ncbi_gene_id	gene_symbol	hpo_id	hpo_name	frequency	disease_id
10	NAT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:243400
10	NAT2	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:243400
16	AARS1	HP:0002460	Distal muscle weakness	15/15	OMIM:613287
16	AARS1	HP:0002451	Limb dystonia	3/3	OMIM:616339
16	AARS1	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:33364
16	AARS1	HP:0001197	Abnormality of prenatal development or birth	HP:0040283	ORPHA:33364
16	AARS1	HP:0410219	Hypoplasia of mandible relative to maxilla	HP:0040283	ORPHA:33364
16	AARS1	HP:0007266	Cerebral dysmyelination	HP:0040283	ORPHA:33364
16	AARS1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:33364
16	AARS1	HP:0010871	Sensory ataxia	1/2	OMIM:619661
16	AARS1	HP:0009886	Trichorrhexis nodosa	1/2	OMIM:619691
16	AARS1	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
16	AARS1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
16	AARS1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
16	AARS1	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:33364
16	AARS1	HP:0001276	Hypertonia	HP:0040283	ORPHA:33364
16	AARS1	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
16	AARS1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
16	AARS1	HP:0001268	Mental deterioration	2/2	OMIM:619661
16	AARS1	HP:0002599	Head titubation	1/2	OMIM:619691
16	AARS1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
16	AARS1	HP:0001288	Gait disturbance	2/2	OMIM:619661
16	AARS1	HP:0001284	Areflexia	3/3	OMIM:616339
16	AARS1	HP:0001284	Areflexia	1/2	OMIM:619691
16	AARS1	HP:0001284	Areflexia	-	OMIM:613287
16	AARS1	HP:0001250	Seizure	HP:0040282	ORPHA:442835
16	AARS1	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
16	AARS1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
16	AARS1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
16	AARS1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:33364
16	AARS1	HP:0001265	Hyporeflexia	3/7	OMIM:613287
16	AARS1	HP:0001264	Spastic diplegia	1/2	OMIM:619691
16	AARS1	HP:0001260	Dysarthria	HP:0040283	ORPHA:33364
16	AARS1	HP:0001263	Global developmental delay	2/2	OMIM:619691
16	AARS1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
16	AARS1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:33364
16	AARS1	HP:0001263	Global developmental delay	3/3	OMIM:616339
16	AARS1	HP:0001257	Spasticity	3/3	OMIM:616339
16	AARS1	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
16	AARS1	HP:0001257	Spasticity	HP:0040283	ORPHA:33364
16	AARS1	HP:0001257	Spasticity	1/2	OMIM:619691
16	AARS1	HP:0002562	Low-set nipples	HP:0040283	ORPHA:33364
16	AARS1	HP:0100876	Infra-orbital crease	1/2	OMIM:619691
16	AARS1	HP:0007381	Congenital exfoliative erythroderma	HP:0040283	ORPHA:33364
16	AARS1	HP:0007340	Lower limb muscle weakness	4/7	OMIM:613287
16	AARS1	HP:0001217	Clubbing	HP:0040283	ORPHA:33364
16	AARS1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
16	AARS1	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
16	AARS1	HP:0001373	Joint dislocation	HP:0040283	ORPHA:33364
16	AARS1	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:33364
16	AARS1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:33364
16	AARS1	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:33364
16	AARS1	HP:0007485	Absence of subcutaneous fat	HP:0040283	ORPHA:33364
16	AARS1	HP:0001332	Dystonia	1/2	OMIM:619661
16	AARS1	HP:0001338	Partial agenesis of the corpus callosum	HP:0040283	ORPHA:33364
16	AARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619691
16	AARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616339
16	AARS1	HP:0001337	Tremor	HP:0040283	ORPHA:442835
16	AARS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619661
16	AARS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613287
16	AARS1	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
16	AARS1	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
16	AARS1	HP:0012196	Cheyne-Stokes respiration	1/2	OMIM:619661
16	AARS1	HP:0012179	Craniofacial dystonia	1/2	OMIM:619691
16	AARS1	HP:0007633	Bilateral microphthalmos	HP:0040283	ORPHA:33364
16	AARS1	HP:0008936	Axial hypotonia	2/3	OMIM:616339
16	AARS1	HP:0008944	Distal lower limb amyotrophy	4/7	OMIM:613287
16	AARS1	HP:0002705	High, narrow palate	HP:0040283	ORPHA:33364
16	AARS1	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:33364
16	AARS1	HP:0007587	Numerous pigmented freckles	HP:0040283	ORPHA:33364
16	AARS1	HP:0000133	Gonadal dysgenesis	HP:0040283	ORPHA:33364
16	AARS1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:33364
16	AARS1	HP:0002719	Recurrent infections	HP:0040283	ORPHA:33364
16	AARS1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
16	AARS1	HP:0030903	Grasp reflex	1/2	OMIM:619661
16	AARS1	HP:0002080	Intention tremor	HP:0040283	ORPHA:33364
16	AARS1	HP:0002066	Gait ataxia	HP:0040283	ORPHA:33364
16	AARS1	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
16	AARS1	HP:0002063	Rigidity	2/2	OMIM:619661
16	AARS1	HP:0002072	Chorea	3/3	OMIM:616339
16	AARS1	HP:0002059	Cerebral atrophy	3/3	OMIM:616339
16	AARS1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
16	AARS1	HP:0003477	Peripheral axonal neuropathy	-	OMIM:613287
16	AARS1	HP:0003487	Babinski sign	1/2	OMIM:619691
16	AARS1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:33364
16	AARS1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:33364
16	AARS1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
16	AARS1	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:613287
16	AARS1	HP:0003429	CNS hypomyelination	2/3	OMIM:616339
16	AARS1	HP:0003438	Absent Achilles reflex	4/7	OMIM:613287
16	AARS1	HP:0002188	Delayed CNS myelination	1/2	OMIM:619691
16	AARS1	HP:0002197	Generalized-onset seizure	HP:0040283	ORPHA:33364
16	AARS1	HP:0010551	Paraplegia/paraparesis	HP:0040283	ORPHA:33364
16	AARS1	HP:0003596	Middle age onset	2/17	OMIM:613287
16	AARS1	HP:0003593	Infantile onset	2/3	OMIM:616339
16	AARS1	HP:0003593	Infantile onset	2/2	OMIM:619691
16	AARS1	HP:0003577	Congenital onset	11/13	OMIM:616339
16	AARS1	HP:0003581	Adult onset	2/2	OMIM:619661
16	AARS1	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
16	AARS1	HP:0002224	Woolly hair	2/2	OMIM:619691
16	AARS1	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:33364
16	AARS1	HP:0200134	Epileptic encephalopathy	-	OMIM:616339
16	AARS1	HP:0002299	Brittle hair	HP:0040283	ORPHA:33364
16	AARS1	HP:0002293	Alopecia of scalp	HP:0040283	ORPHA:33364
16	AARS1	HP:0007034	Generalized hyperreflexia	HP:0040283	ORPHA:33364
16	AARS1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
16	AARS1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
16	AARS1	HP:0020045	Esodeviation	1/2	OMIM:619691
16	AARS1	HP:0008391	Dystrophic fingernails	HP:0040283	ORPHA:33364
16	AARS1	HP:0008386	Aplasia/Hypoplasia of the nails	HP:0040283	ORPHA:33364
16	AARS1	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
16	AARS1	HP:0002352	Leukoencephalopathy	1/2	OMIM:619661
16	AARS1	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
16	AARS1	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
16	AARS1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
16	AARS1	HP:0009830	Peripheral neuropathy	-	OMIM:616339
16	AARS1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:33364
16	AARS1	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:33364
16	AARS1	HP:0002310	Orofacial dyskinesia	3/3	OMIM:616339
16	AARS1	HP:0003621	Juvenile onset	3/17	OMIM:613287
16	AARS1	HP:4000007	Bronchoconstriction	HP:0040283	ORPHA:33364
16	AARS1	HP:0000639	Nystagmus	1/3	OMIM:616339
16	AARS1	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
16	AARS1	HP:0000639	Nystagmus	HP:0040283	ORPHA:33364
16	AARS1	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
16	AARS1	HP:0000643	Blepharospasm	3/3	OMIM:616339
16	AARS1	HP:0000613	Photophobia	HP:0040283	ORPHA:33364
16	AARS1	HP:0000608	Macular degeneration	HP:0040283	ORPHA:33364
16	AARS1	HP:0000601	Hypotelorism	1/2	OMIM:619691
16	AARS1	HP:0000601	Hypotelorism	HP:0040283	ORPHA:33364
16	AARS1	HP:0001903	Anemia	HP:0040283	ORPHA:33364
16	AARS1	HP:0009027	Foot dorsiflexor weakness	-	OMIM:613287
16	AARS1	HP:0000656	Ectropion	HP:0040283	ORPHA:33364
16	AARS1	HP:0000670	Carious teeth	HP:0040283	ORPHA:33364
16	AARS1	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
16	AARS1	HP:0004322	Short stature	HP:0040283	ORPHA:442835
16	AARS1	HP:0004322	Short stature	2/3	OMIM:616339
16	AARS1	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:33364
16	AARS1	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
16	AARS1	HP:0003079	Defective DNA repair after ultraviolet radiation damage	HP:0040283	ORPHA:33364
16	AARS1	HP:0000751	Personality changes	1/2	OMIM:619661
16	AARS1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
16	AARS1	HP:0000717	Autism	HP:0040283	ORPHA:442835
16	AARS1	HP:0000726	Dementia	2/2	OMIM:619661
16	AARS1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
16	AARS1	HP:0011462	Young adult onset	12/17	OMIM:613287
16	AARS1	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
16	AARS1	HP:0011448	Ankle clonus	1/2	OMIM:619691
16	AARS1	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:33364
16	AARS1	HP:0003139	Panhypogammaglobulinemia	HP:0040283	ORPHA:33364
16	AARS1	HP:0003202	Skeletal muscle atrophy	-	OMIM:613287
16	AARS1	HP:0045055	Tiger tail banding	HP:0040283	ORPHA:33364
16	AARS1	HP:0045075	Sparse eyebrow	1/2	OMIM:619691
16	AARS1	HP:0008003	Jerky ocular pursuit movements	1/2	OMIM:619691
16	AARS1	HP:0100275	Diffuse cerebellar atrophy	HP:0040283	ORPHA:33364
16	AARS1	HP:0000973	Cutis laxa	1/2	OMIM:619691
16	AARS1	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:33364
16	AARS1	HP:0000958	Dry skin	HP:0040283	ORPHA:33364
16	AARS1	HP:0000964	Eczematoid dermatitis	1/2	OMIM:619691
16	AARS1	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:33364
16	AARS1	HP:0000938	Osteopenia	HP:0040283	ORPHA:33364
16	AARS1	HP:0008070	Sparse hair	1/2	OMIM:619691
16	AARS1	HP:0008064	Ichthyosis	HP:0040283	ORPHA:33364
16	AARS1	HP:0000286	Epicanthus	HP:0040283	ORPHA:33364
16	AARS1	HP:0000280	Coarse facial features	HP:0040283	ORPHA:33364
16	AARS1	HP:0000278	Retrognathia	HP:0040283	ORPHA:33364
16	AARS1	HP:0000278	Retrognathia	1/2	OMIM:619691
16	AARS1	HP:0025548	Increased mean corpuscular hemoglobin concentration	HP:0040283	ORPHA:33364
16	AARS1	HP:0001598	Concave nail	HP:0040283	ORPHA:33364
16	AARS1	HP:0002827	Hip dislocation	2/3	OMIM:616339
16	AARS1	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:33364
16	AARS1	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
16	AARS1	HP:0000252	Microcephaly	HP:0040283	ORPHA:33364
16	AARS1	HP:0000252	Microcephaly	3/3	OMIM:616339
16	AARS1	HP:0000219	Thin upper lip vermilion	1/2	OMIM:619691
16	AARS1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
16	AARS1	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:33364
16	AARS1	HP:0031358	Vegetative state	2/2	OMIM:619661
16	AARS1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:33364
16	AARS1	HP:0001508	Failure to thrive	3/3	OMIM:616339
16	AARS1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
16	AARS1	HP:0001511	Intrauterine growth retardation	2/3	OMIM:616339
16	AARS1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:33364
16	AARS1	HP:0012377	Hemianopia	1/2	OMIM:619661
16	AARS1	HP:0006538	Recurrent bronchopulmonary infections	HP:0040283	ORPHA:33364
16	AARS1	HP:0002936	Distal sensory impairment	17/22	OMIM:613287
16	AARS1	HP:0001618	Dysphonia	HP:0040283	ORPHA:33364
16	AARS1	HP:0002942	Thoracic kyphosis	HP:0040283	ORPHA:33364
16	AARS1	HP:0000343	Long philtrum	1/2	OMIM:619691
16	AARS1	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:33364
16	AARS1	HP:0000348	High forehead	HP:0040283	ORPHA:442835
16	AARS1	HP:0000320	Bird-like facies	HP:0040283	ORPHA:33364
16	AARS1	HP:0032794	Myoclonic seizure	3/3	OMIM:616339
16	AARS1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33364
16	AARS1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:33364
16	AARS1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:33364
16	AARS1	HP:0000407	Sensorineural hearing impairment	-	OMIM:613287
16	AARS1	HP:0000483	Astigmatism	HP:0040283	ORPHA:33364
16	AARS1	HP:0000486	Strabismus	HP:0040283	ORPHA:33364
16	AARS1	HP:0000482	Microcornea	HP:0040283	ORPHA:33364
16	AARS1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
16	AARS1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
16	AARS1	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
16	AARS1	HP:0001765	Hammertoe	-	OMIM:613287
16	AARS1	HP:0000448	Prominent nose	1/2	OMIM:619691
16	AARS1	HP:0000411	Protruding ear	HP:0040283	ORPHA:33364
16	AARS1	HP:0000411	Protruding ear	1/2	OMIM:619691
16	AARS1	HP:0001761	Pes cavus	-	OMIM:613287
16	AARS1	HP:0000519	Developmental cataract	HP:0040283	ORPHA:33364
16	AARS1	HP:0001838	Rocker bottom foot	3/3	OMIM:616339
16	AARS1	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:33364
16	AARS1	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
16	AARS1	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
16	AARS1	HP:0001809	Split nail	HP:0040283	ORPHA:33364
16	AARS1	HP:0001808	Fragile nails	HP:0040283	ORPHA:33364
16	AARS1	HP:0001807	Ridged nail	HP:0040283	ORPHA:33364
16	AARS1	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
16	AARS1	HP:0000565	Esotropia	HP:0040283	ORPHA:33364
16	AARS1	HP:0000546	Retinal degeneration	HP:0040283	ORPHA:33364
16	AARS1	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
16	AARS1	HP:0000545	Myopia	HP:0040283	ORPHA:33364
16	AARS1	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33364
18	ABAT	HP:0007272	Progressive psychomotor deterioration	HP:0040282	ORPHA:2066
18	ABAT	HP:0007266	Cerebral dysmyelination	HP:0040281	ORPHA:2066
18	ABAT	HP:0010851	EEG with burst suppression	1/2	OMIM:613163
18	ABAT	HP:0002415	Leukodystrophy	1/2	OMIM:613163
18	ABAT	HP:0007291	Posterior fossa cyst	1/2	OMIM:613163
18	ABAT	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:2066
18	ABAT	HP:0001274	Agenesis of corpus callosum	1/2	OMIM:613163
18	ABAT	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:2066
18	ABAT	HP:0001254	Lethargy	2/2	OMIM:613163
18	ABAT	HP:0001254	Lethargy	HP:0040283	ORPHA:2066
18	ABAT	HP:0001250	Seizure	HP:0040282	ORPHA:2066
18	ABAT	HP:0001250	Seizure	2/2	OMIM:613163
18	ABAT	HP:0001252	Hypotonia	HP:0040281	ORPHA:2066
18	ABAT	HP:0001252	Hypotonia	2/2	OMIM:613163
18	ABAT	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:2066
18	ABAT	HP:0001263	Global developmental delay	2/2	OMIM:613163
18	ABAT	HP:0500253	Increased level of gamma-aminobutyric acid in urine	HP:0040281	ORPHA:2066
18	ABAT	HP:0003819	Death in childhood	2/2	OMIM:613163
18	ABAT	HP:0000098	Tall stature	1/2	OMIM:613163
18	ABAT	HP:0000098	Tall stature	HP:0040282	ORPHA:2066
18	ABAT	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2066
18	ABAT	HP:0001347	Hyperreflexia	2/2	OMIM:613163
18	ABAT	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:2066
18	ABAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:613163
18	ABAT	HP:0001321	Cerebellar hypoplasia	1/2	OMIM:613163
18	ABAT	HP:0025430	High-pitched cry	HP:0040282	ORPHA:2066
18	ABAT	HP:0025430	High-pitched cry	2/2	OMIM:613163
18	ABAT	HP:0410053	Elevated circulating gamma-aminobutyric acid concentration	HP:0040281	ORPHA:2066
18	ABAT	HP:0032531	Elevated CSF gamma-aminobutyric acid concentration	HP:0040281	ORPHA:2066
18	ABAT	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:2066
18	ABAT	HP:0100786	Hypersomnia	HP:0040282	ORPHA:2066
18	ABAT	HP:0200134	Epileptic encephalopathy	HP:0040280	ORPHA:2066
18	ABAT	HP:0011968	Feeding difficulties	2/2	OMIM:613163
18	ABAT	HP:0002353	EEG abnormality	HP:0040281	ORPHA:2066
18	ABAT	HP:0003623	Neonatal onset	2/2	OMIM:613163
18	ABAT	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:2066
18	ABAT	HP:0000845	Elevated circulating growth hormone concentration	HP:0040282	ORPHA:2066
18	ABAT	HP:0000278	Retrognathia	1/2	OMIM:613163
18	ABAT	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2066
18	ABAT	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:613163
19	ABCA1	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:31150
19	ABCA1	HP:0001114	Xanthelasma	HP:0040282	ORPHA:425
19	ABCA1	HP:0007328	Impaired pain sensation	-	OMIM:205400
19	ABCA1	HP:0001265	Hyporeflexia	-	OMIM:205400
19	ABCA1	HP:0001349	Facial diplegia	-	OMIM:205400
19	ABCA1	HP:0001349	Facial diplegia	HP:0040283	ORPHA:31150
19	ABCA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:205400
19	ABCA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:604091
19	ABCA1	HP:0002621	Atherosclerosis	-	OMIM:205400
19	ABCA1	HP:0002621	Atherosclerosis	HP:0040281	ORPHA:425
19	ABCA1	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:31150
19	ABCA1	HP:0002730	Chronic noninfectious lymphadenopathy	HP:0040282	ORPHA:31150
19	ABCA1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:31150
19	ABCA1	HP:0100546	Carotid artery stenosis	HP:0040283	ORPHA:31150
19	ABCA1	HP:0003396	Syringomyelia	HP:0040283	ORPHA:31150
19	ABCA1	HP:0003477	Peripheral axonal neuropathy	-	OMIM:205400
19	ABCA1	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:31150
19	ABCA1	HP:0002155	Hypertriglyceridemia	-	OMIM:205400
19	ABCA1	HP:0002155	Hypertriglyceridemia	0/7	OMIM:604091
19	ABCA1	HP:0002155	Hypertriglyceridemia	HP:0040281	ORPHA:31150
19	ABCA1	HP:0002164	Nail dysplasia	-	OMIM:205400
19	ABCA1	HP:0002240	Hepatomegaly	-	OMIM:205400
19	ABCA1	HP:0008404	Nail dystrophy	-	OMIM:205400
19	ABCA1	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:31150
19	ABCA1	HP:0003693	Distal amyotrophy	-	OMIM:205400
19	ABCA1	HP:0010829	Impaired temperature sensation	-	OMIM:205400
19	ABCA1	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:31150
19	ABCA1	HP:0007133	Progressive peripheral neuropathy	HP:0040282	ORPHA:31150
19	ABCA1	HP:0004943	Accelerated atherosclerosis	HP:0040282	ORPHA:31150
19	ABCA1	HP:0031800	Elevated circulating apolipoprotein A-II concentration	-	OMIM:205400
19	ABCA1	HP:0000622	Blurred vision	HP:0040282	ORPHA:425
19	ABCA1	HP:0001903	Anemia	HP:0040283	ORPHA:31150
19	ABCA1	HP:0031799	Decreased circulating apolipoprotein A-I concentration	-	OMIM:205400
19	ABCA1	HP:0000656	Ectropion	-	OMIM:205400
19	ABCA1	HP:0000656	Ectropion	HP:0040282	ORPHA:31150
19	ABCA1	HP:0003119	Abnormal circulating lipid concentration	HP:0040281	ORPHA:425
19	ABCA1	HP:0003146	Hypocholesterolemia	HP:0040281	ORPHA:31150
19	ABCA1	HP:0003233	Decreased HDL cholesterol concentration	6/7	OMIM:604091
19	ABCA1	HP:0003233	Decreased HDL cholesterol concentration	-	OMIM:205400
19	ABCA1	HP:0003233	Decreased HDL cholesterol concentration	HP:0040281	ORPHA:425
19	ABCA1	HP:0030814	Orange discolored tonsils	HP:0040282	ORPHA:31150
19	ABCA1	HP:0000991	Xanthomatosis	HP:0040282	ORPHA:425
19	ABCA1	HP:0000958	Dry skin	-	OMIM:205400
19	ABCA1	HP:0000958	Dry skin	HP:0040282	ORPHA:31150
19	ABCA1	HP:0005145	Coronary artery stenosis	HP:0040282	ORPHA:31150
19	ABCA1	HP:0007759	Opacification of the corneal stroma	-	OMIM:205400
19	ABCA1	HP:0007759	Opacification of the corneal stroma	HP:0040281	ORPHA:425
19	ABCA1	HP:0011096	Peripheral demyelination	-	OMIM:205400
19	ABCA1	HP:0005181	Premature coronary artery atherosclerosis	2/4	OMIM:604091
19	ABCA1	HP:0005181	Premature coronary artery atherosclerosis	HP:0040282	ORPHA:425
19	ABCA1	HP:0001681	Angina pectoris	HP:0040282	ORPHA:425
19	ABCA1	HP:0001677	Coronary artery atherosclerosis	-	OMIM:205400
19	ABCA1	HP:0025608	Cicatricial ectropion	-	OMIM:205400
19	ABCA1	HP:0001658	Myocardial infarction	-	OMIM:604091
19	ABCA1	HP:0001658	Myocardial infarction	-	OMIM:205400
19	ABCA1	HP:0007957	Corneal opacity	HP:0040283	ORPHA:31150
19	ABCA1	HP:0001712	Left ventricular hypertrophy	-	OMIM:205400
19	ABCA1	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:31150
19	ABCA1	HP:0001744	Splenomegaly	-	OMIM:205400
19	ABCA1	HP:0000505	Visual impairment	-	OMIM:205400
19	ABCA1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:31150
20	ABCA2	HP:0001256	Intellectual disability, mild	1/2	OMIM:618808
20	ABCA2	HP:0001250	Seizure	1/3	OMIM:618808
20	ABCA2	HP:0001249	Intellectual disability	-	OMIM:618808
20	ABCA2	HP:0001260	Dysarthria	2/2	OMIM:618808
20	ABCA2	HP:0001324	Muscle weakness	1/3	OMIM:618808
20	ABCA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618808
20	ABCA2	HP:0002066	Gait ataxia	2/2	OMIM:618808
20	ABCA2	HP:0002286	Fair hair	2/3	OMIM:618808
20	ABCA2	HP:0002311	Incoordination	2/2	OMIM:618808
20	ABCA2	HP:0011342	Mild global developmental delay	3/3	OMIM:618808
20	ABCA2	HP:0031936	Delayed ability to walk	2/2	OMIM:618808
20	ABCA2	HP:0000718	Aggressive behavior	1/2	OMIM:618808
20	ABCA2	HP:0003141	Increased LDL cholesterol concentration	2/2	OMIM:618808
20	ABCA2	HP:0000252	Microcephaly	1/3	OMIM:618808
20	ABCA2	HP:0000519	Developmental cataract	1/3	OMIM:618808
21	ABCA3	HP:0025175	Honeycomb lung	HP:0040282	ORPHA:2032
21	ABCA3	HP:0025175	Honeycomb lung	4/11	OMIM:610921
21	ABCA3	HP:0025179	Ground-glass opacification	HP:0040282	ORPHA:2032
21	ABCA3	HP:0025179	Ground-glass opacification	11/11	OMIM:610921
21	ABCA3	HP:0033584	Nonspecific interstitial pneumonia	7/23	OMIM:610921
21	ABCA3	HP:0033542	Bronchial wall thickening	7/11	OMIM:610921
21	ABCA3	HP:0100806	Sepsis	HP:0040284	ORPHA:685082
21	ABCA3	HP:0001217	Clubbing	-	OMIM:610921
21	ABCA3	HP:0033649	Paraseptal emphysema	2/11	OMIM:610921
21	ABCA3	HP:0032341	Reduced forced vital capacity	HP:0040282	ORPHA:2032
21	ABCA3	HP:0003811	Neonatal death	11/21	OMIM:610921
21	ABCA3	HP:0025394	Cystic pattern on pulmonary HRCT	8/11	OMIM:610921
21	ABCA3	HP:0025392	Nodular pattern on pulmonary HRCT	1/11	OMIM:610921
21	ABCA3	HP:0025391	Crazy paving pattern	2/11	OMIM:610921
21	ABCA3	HP:0025390	Reticular pattern on pulmonary HRCT	HP:0040282	ORPHA:2032
21	ABCA3	HP:0025390	Reticular pattern on pulmonary HRCT	11/11	OMIM:610921
21	ABCA3	HP:0000007	Autosomal recessive inheritance	-	OMIM:610921
21	ABCA3	HP:0002643	Neonatal respiratory distress	30/37	OMIM:610921
21	ABCA3	HP:0002643	Neonatal respiratory distress	HP:0040281	ORPHA:217563
21	ABCA3	HP:0002615	Hypotension	HP:0040283	ORPHA:685082
21	ABCA3	HP:0002789	Tachypnea	HP:0040282	ORPHA:685082
21	ABCA3	HP:0002789	Tachypnea	HP:0040281	ORPHA:217563
21	ABCA3	HP:0002789	Tachypnea	-	OMIM:610921
21	ABCA3	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2032
21	ABCA3	HP:0002098	Respiratory distress	-	OMIM:610921
21	ABCA3	HP:0002094	Dyspnea	-	OMIM:610921
21	ABCA3	HP:0002092	Pulmonary arterial hypertension	HP:0040282	ORPHA:217563
21	ABCA3	HP:0002090	Pneumonia	HP:0040283	ORPHA:685082
21	ABCA3	HP:0010444	Pulmonic regurgitation	HP:0040283	ORPHA:2032
21	ABCA3	HP:0100598	Pulmonary edema	HP:0040282	ORPHA:685082
21	ABCA3	HP:0005942	Desquamative interstitial pneumonitis	4/9	OMIM:610921
21	ABCA3	HP:0002113	Pulmonary infiltrates	HP:0040282	ORPHA:217563
21	ABCA3	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:2032
21	ABCA3	HP:0002104	Apnea	-	OMIM:610921
21	ABCA3	HP:0003577	Congenital onset	-	OMIM:610921
21	ABCA3	HP:0004876	Spontaneous neonatal pneumothorax	HP:0040283	ORPHA:217563
21	ABCA3	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:2032
21	ABCA3	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:2032
21	ABCA3	HP:0002206	Pulmonary fibrosis	2/23	OMIM:610921
21	ABCA3	HP:0100750	Atelectasis	HP:0040282	ORPHA:685082
21	ABCA3	HP:0100759	Clubbing of fingers	HP:0040282	ORPHA:2032
21	ABCA3	HP:0033367	Orthodeoxia	HP:0040283	ORPHA:2032
21	ABCA3	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:685082
21	ABCA3	HP:0001063	Acrocyanosis	HP:0040282	ORPHA:2032
21	ABCA3	HP:0031950	Usual interstitial pneumonia	HP:0040282	ORPHA:2032
21	ABCA3	HP:0031950	Usual interstitial pneumonia	1/23	OMIM:610921
21	ABCA3	HP:0012735	Cough	HP:0040282	ORPHA:2032
21	ABCA3	HP:0012735	Cough	-	OMIM:610921
21	ABCA3	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:685082
21	ABCA3	HP:0030863	Nasal flaring	HP:0040282	ORPHA:685082
21	ABCA3	HP:0045051	Decreased DLCO	HP:0040282	ORPHA:2032
21	ABCA3	HP:0030830	Crackles	HP:0040282	ORPHA:2032
21	ABCA3	HP:0000961	Cyanosis	-	OMIM:610921
21	ABCA3	HP:0000961	Cyanosis	HP:0040282	ORPHA:685082
21	ABCA3	HP:0002878	Respiratory failure	-	OMIM:610921
21	ABCA3	HP:0002878	Respiratory failure	HP:0040282	ORPHA:685082
21	ABCA3	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:2032
21	ABCA3	HP:0002875	Exertional dyspnea	-	OMIM:610921
21	ABCA3	HP:0001522	Death in infancy	2/21	OMIM:610921
21	ABCA3	HP:0001508	Failure to thrive	-	OMIM:610921
21	ABCA3	HP:0012378	Fatigue	HP:0040282	ORPHA:2032
21	ABCA3	HP:0006528	Chronic lung disease	HP:0040283	ORPHA:217563
21	ABCA3	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040281	ORPHA:217563
21	ABCA3	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040281	ORPHA:2032
21	ABCA3	HP:0006515	Interstitial pneumonitis	HP:0040283	ORPHA:217563
21	ABCA3	HP:0006517	Intraalveolar phospholipid accumulation	HP:0040281	ORPHA:217563
21	ABCA3	HP:0006517	Intraalveolar phospholipid accumulation	18/19	OMIM:610921
21	ABCA3	HP:0001695	Cardiac arrest	HP:0040283	ORPHA:685082
21	ABCA3	HP:0001667	Right ventricular hypertrophy	HP:0040283	ORPHA:217563
21	ABCA3	HP:0031457	Pulmonary opacity	HP:0040282	ORPHA:217563
21	ABCA3	HP:0001649	Tachycardia	HP:0040283	ORPHA:685082
21	ABCA3	HP:0001662	Bradycardia	HP:0040283	ORPHA:685082
21	ABCA3	HP:0001622	Premature birth	HP:0040282	ORPHA:685082
21	ABCA3	HP:0031631	Subpleural honeycombing	HP:0040282	ORPHA:2032
21	ABCA3	HP:0032980	Absent bronchoalveolar surfactant-protein C	-	OMIM:610921
21	ABCA3	HP:0012418	Hypoxemia	HP:0040281	ORPHA:685082
21	ABCA3	HP:0012418	Hypoxemia	-	OMIM:610921
22	ABCB7	HP:0002463	Language impairment	3/3	OMIM:301310
22	ABCB7	HP:0002470	Nonprogressive cerebellar ataxia	11/11	OMIM:301310
22	ABCB7	HP:0002403	Positive Romberg sign	1/1	OMIM:301310
22	ABCB7	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:2802
22	ABCB7	HP:0001272	Cerebellar atrophy	2/2	OMIM:301310
22	ABCB7	HP:0001288	Gait disturbance	7/7	OMIM:301310
22	ABCB7	HP:0001250	Seizure	HP:0040284	ORPHA:2802
22	ABCB7	HP:0001250	Seizure	1/1	OMIM:301310
22	ABCB7	HP:0001252	Hypotonia	HP:0040283	ORPHA:2802
22	ABCB7	HP:0001252	Hypotonia	3/3	OMIM:301310
22	ABCB7	HP:0001251	Ataxia	HP:0040281	ORPHA:2802
22	ABCB7	HP:0001251	Ataxia	3/3	OMIM:301310
22	ABCB7	HP:0001260	Dysarthria	HP:0040282	ORPHA:2802
22	ABCB7	HP:0001260	Dysarthria	15/15	OMIM:301310
22	ABCB7	HP:0001263	Global developmental delay	15/15	OMIM:301310
22	ABCB7	HP:0031020	Bone marrow hypercellularity	2/2	OMIM:301310
22	ABCB7	HP:0025373	Interictal EEG abnormality	1/1	OMIM:301310
22	ABCB7	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:2802
22	ABCB7	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2802
22	ABCB7	HP:0001347	Hyperreflexia	3/3	OMIM:301310
22	ABCB7	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:2802
22	ABCB7	HP:0000028	Cryptorchidism	1/1	OMIM:301310
22	ABCB7	HP:0001336	Myoclonus	1/1	OMIM:301310
22	ABCB7	HP:0001310	Dysmetria	3/3	OMIM:301310
22	ABCB7	HP:0001310	Dysmetria	HP:0040283	ORPHA:2802
22	ABCB7	HP:0001321	Cerebellar hypoplasia	7/7	OMIM:301310
22	ABCB7	HP:0001315	Reduced tendon reflexes	3/3	OMIM:301310
22	ABCB7	HP:0012187	Increased erythrocyte protoporphyrin concentration	8/8	OMIM:301310
22	ABCB7	HP:0012187	Increased erythrocyte protoporphyrin concentration	HP:0040281	ORPHA:2802
22	ABCB7	HP:0012132	Erythroid hyperplasia	1/1	OMIM:301310
22	ABCB7	HP:0032550	Howell-Jolly bodies	1/1	OMIM:301310
22	ABCB7	HP:0001419	X-linked recessive inheritance	-	OMIM:301310
22	ABCB7	HP:0034499	Increased bone marrow iron	HP:0040283	ORPHA:2802
22	ABCB7	HP:0002080	Intention tremor	1/1	OMIM:301310
22	ABCB7	HP:0100543	Cognitive impairment	1/1	OMIM:301310
22	ABCB7	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:2802
22	ABCB7	HP:0002066	Gait ataxia	HP:0040281	ORPHA:2802
22	ABCB7	HP:0002075	Dysdiadochokinesis	HP:0040283	ORPHA:2802
22	ABCB7	HP:0002075	Dysdiadochokinesis	4/4	OMIM:301310
22	ABCB7	HP:0003487	Babinski sign	3/3	OMIM:301310
22	ABCB7	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:2802
22	ABCB7	HP:0002169	Clonus	2/2	OMIM:301310
22	ABCB7	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:2802
22	ABCB7	HP:0002172	Postural instability	9/9	OMIM:301310
22	ABCB7	HP:0002172	Postural instability	HP:0040282	ORPHA:2802
22	ABCB7	HP:0003593	Infantile onset	2/4	OMIM:301310
22	ABCB7	HP:0003577	Congenital onset	3/6	OMIM:301310
22	ABCB7	HP:0100753	Schizophrenia	HP:0040284	ORPHA:2802
22	ABCB7	HP:0100753	Schizophrenia	1/1	OMIM:301310
22	ABCB7	HP:0004840	Hypochromic microcytic anemia	4/4	OMIM:301310
22	ABCB7	HP:0004840	Hypochromic microcytic anemia	HP:0040282	ORPHA:2802
22	ABCB7	HP:0020081	Pappenheimer bodies	3/3	OMIM:301310
22	ABCB7	HP:0020081	Pappenheimer bodies	HP:0040283	ORPHA:2802
22	ABCB7	HP:0002363	Abnormal brainstem morphology	2/2	OMIM:301310
22	ABCB7	HP:0006897	Abducens palsy	1/1	OMIM:301310
22	ABCB7	HP:0000639	Nystagmus	HP:0040282	ORPHA:2802
22	ABCB7	HP:0000639	Nystagmus	9/9	OMIM:301310
22	ABCB7	HP:0001924	Sideroblastic anemia	3/3	OMIM:301310
22	ABCB7	HP:0001924	Sideroblastic anemia	HP:0040282	ORPHA:2802
22	ABCB7	HP:0000602	Ophthalmoplegia	5/5	OMIM:301310
22	ABCB7	HP:0001903	Anemia	HP:0040281	ORPHA:2802
22	ABCB7	HP:0001903	Anemia	5/5	OMIM:301310
22	ABCB7	HP:0001992	Organic aciduria	1/1	OMIM:301310
22	ABCB7	HP:0001992	Organic aciduria	HP:0040284	ORPHA:2802
22	ABCB7	HP:0004322	Short stature	3/3	OMIM:301310
22	ABCB7	HP:0006999	Basal ganglia gliosis	1/1	OMIM:301310
22	ABCB7	HP:0031936	Delayed ability to walk	HP:0040281	ORPHA:2802
22	ABCB7	HP:0012751	Abnormal basal ganglia MRI signal intensity	1/1	OMIM:301310
22	ABCB7	HP:0100022	Abnormality of movement	1/1	OMIM:301310
22	ABCB7	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:2802
22	ABCB7	HP:0000716	Depression	1/1	OMIM:301310
22	ABCB7	HP:0000716	Depression	HP:0040284	ORPHA:2802
22	ABCB7	HP:0000717	Autism	1/1	OMIM:301310
22	ABCB7	HP:0000717	Autism	HP:0040283	ORPHA:2802
22	ABCB7	HP:0000726	Dementia	1/1	OMIM:301310
22	ABCB7	HP:0011463	Childhood onset	3/6	OMIM:301310
22	ABCB7	HP:0004447	Poikilocytosis	3/3	OMIM:301310
22	ABCB7	HP:0004447	Poikilocytosis	HP:0040283	ORPHA:2802
22	ABCB7	HP:0034280	Target cells	1/1	OMIM:301310
22	ABCB7	HP:0000980	Pallor	1/1	OMIM:301310
22	ABCB7	HP:0001511	Intrauterine growth retardation	3/3	OMIM:301310
22	ABCB7	HP:0001510	Growth delay	HP:0040283	ORPHA:2802
22	ABCB7	HP:0001618	Dysphonia	2/2	OMIM:301310
22	ABCB7	HP:0000486	Strabismus	HP:0040282	ORPHA:2802
22	ABCB7	HP:0000486	Strabismus	3/3	OMIM:301310
22	ABCB7	HP:0011273	Anisocytosis	3/3	OMIM:301310
22	ABCB7	HP:0011273	Anisocytosis	HP:0040282	ORPHA:2802
22	ABCB7	HP:0001824	Weight loss	2/2	OMIM:301310
24	ABCA4	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
24	ABCA4	HP:0001133	Constriction of peripheral visual field	-	OMIM:601718
24	ABCA4	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
24	ABCA4	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
24	ABCA4	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
24	ABCA4	HP:0000007	Autosomal recessive inheritance	-	OMIM:248200
24	ABCA4	HP:0000007	Autosomal recessive inheritance	-	OMIM:604116
24	ABCA4	HP:0000007	Autosomal recessive inheritance	-	OMIM:601718
24	ABCA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
24	ABCA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:153800
24	ABCA4	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
24	ABCA4	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
24	ABCA4	HP:0007663	Reduced visual acuity	HP:0040280	ORPHA:827
24	ABCA4	HP:0007663	Reduced visual acuity	-	OMIM:601718
24	ABCA4	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
24	ABCA4	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
24	ABCA4	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
24	ABCA4	HP:0003621	Juvenile onset	8/19	OMIM:180100
24	ABCA4	HP:0003621	Juvenile onset	10/12	OMIM:604116
24	ABCA4	HP:0030500	Yellow/white lesions of the macula	HP:0040282	ORPHA:827
24	ABCA4	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
24	ABCA4	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
24	ABCA4	HP:0000649	Abnormality of visual evoked potentials	HP:0040281	ORPHA:827
24	ABCA4	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
24	ABCA4	HP:0000618	Blindness	HP:0040281	ORPHA:791
24	ABCA4	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
24	ABCA4	HP:0000613	Photophobia	HP:0040281	ORPHA:791
24	ABCA4	HP:0000610	Abnormal choroid morphology	HP:0040281	ORPHA:827
24	ABCA4	HP:0000608	Macular degeneration	-	OMIM:248200
24	ABCA4	HP:0000608	Macular degeneration	HP:0040281	ORPHA:827
24	ABCA4	HP:0000608	Macular degeneration	-	OMIM:153800
24	ABCA4	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
24	ABCA4	HP:0000603	Central scotoma	HP:0040281	ORPHA:827
24	ABCA4	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
24	ABCA4	HP:0000603	Central scotoma	17/28	OMIM:604116
24	ABCA4	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
24	ABCA4	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
24	ABCA4	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
24	ABCA4	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
24	ABCA4	HP:0000662	Nyctalopia	HP:0040281	ORPHA:827
24	ABCA4	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
24	ABCA4	HP:0000662	Nyctalopia	-	OMIM:601718
24	ABCA4	HP:0000662	Nyctalopia	26/28	OMIM:180100
24	ABCA4	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
24	ABCA4	HP:0011463	Childhood onset	3/19	OMIM:180100
24	ABCA4	HP:0011463	Childhood onset	1/12	OMIM:604116
24	ABCA4	HP:0011462	Young adult onset	8/19	OMIM:180100
24	ABCA4	HP:0011462	Young adult onset	1/12	OMIM:604116
24	ABCA4	HP:0030786	Photopsia	HP:0040282	ORPHA:827
24	ABCA4	HP:0030786	Photopsia	HP:0040283	ORPHA:791
24	ABCA4	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
24	ABCA4	HP:0011504	Bull's eye maculopathy	4/12	OMIM:604116
24	ABCA4	HP:0011504	Bull's eye maculopathy	15/15	OMIM:248200
24	ABCA4	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
24	ABCA4	HP:0008002	Abnormality of macular pigmentation	HP:0040281	ORPHA:827
24	ABCA4	HP:0008059	Aplasia/Hypoplasia of the macula	HP:0040282	ORPHA:827
24	ABCA4	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
24	ABCA4	HP:0008035	Retinitis pigmentosa inversa	-	OMIM:248200
24	ABCA4	HP:0007722	Retinal pigment epithelial atrophy	HP:0040281	ORPHA:827
24	ABCA4	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:601718
24	ABCA4	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
24	ABCA4	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
24	ABCA4	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:827
24	ABCA4	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
24	ABCA4	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
24	ABCA4	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
24	ABCA4	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
24	ABCA4	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:601718
24	ABCA4	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
24	ABCA4	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
24	ABCA4	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:601718
24	ABCA4	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
24	ABCA4	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:604116
24	ABCA4	HP:0007814	Retinal pigment epithelial mottling	HP:0040281	ORPHA:827
24	ABCA4	HP:0030329	Retinal thinning	HP:0040281	ORPHA:827
24	ABCA4	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
24	ABCA4	HP:0007994	Peripheral visual field loss	10/16	OMIM:604116
24	ABCA4	HP:0007984	Electronegative electroretinogram	-	OMIM:604116
24	ABCA4	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
24	ABCA4	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
24	ABCA4	HP:0000493	Abnormal foveal morphology	HP:0040281	ORPHA:827
24	ABCA4	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
24	ABCA4	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
24	ABCA4	HP:0000510	Rod-cone dystrophy	-	OMIM:601718
24	ABCA4	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
24	ABCA4	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
24	ABCA4	HP:0000512	Abnormal electroretinogram	-	OMIM:601718
24	ABCA4	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
24	ABCA4	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
24	ABCA4	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
24	ABCA4	HP:0000505	Visual impairment	-	OMIM:601718
24	ABCA4	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
24	ABCA4	HP:0000580	Pigmentary retinopathy	-	OMIM:604116
24	ABCA4	HP:0000575	Scotoma	5/18	OMIM:180100
24	ABCA4	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
24	ABCA4	HP:0000572	Visual loss	-	OMIM:604116
24	ABCA4	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
24	ABCA4	HP:0000551	Color vision defect	HP:0040281	ORPHA:827
24	ABCA4	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
24	ABCA4	HP:0000551	Color vision defect	10/10	OMIM:604116
24	ABCA4	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
24	ABCA4	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:604116
24	ABCA4	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
24	ABCA4	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
24	ABCA4	HP:0000543	Optic disc pallor	-	OMIM:601718
24	ABCA4	HP:0000543	Optic disc pallor	1/1	OMIM:180100
24	ABCA4	HP:0000543	Optic disc pallor	-	OMIM:604116
24	ABCA4	HP:0000545	Myopia	-	OMIM:180100
25	ABL1	HP:0009901	Crumpled ear	90/119	OMIM:121050
25	ABL1	HP:0001181	Adducted thumb	42/90	OMIM:121050
25	ABL1	HP:0001166	Arachnodactyly	104/124	OMIM:121050
25	ABL1	HP:0001166	Arachnodactyly	124/197	OMIM:154700
25	ABL1	HP:0001166	Arachnodactyly	1/6	OMIM:617602
25	ABL1	HP:0001166	Arachnodactyly	34/37	OMIM:182212
25	ABL1	HP:0001166	Arachnodactyly	6/15	OMIM:208050
25	ABL1	HP:0003745	Sporadic	-	OMIM:182212
25	ABL1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
25	ABL1	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
25	ABL1	HP:0001290	Generalized hypotonia	-	OMIM:208050
25	ABL1	HP:0001290	Generalized hypotonia	-	OMIM:182212
25	ABL1	HP:0001270	Motor delay	-	OMIM:121050
25	ABL1	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
25	ABL1	HP:0001252	Hypotonia	26/37	OMIM:182212
25	ABL1	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
25	ABL1	HP:0001249	Intellectual disability	-	OMIM:182212
25	ABL1	HP:0001263	Global developmental delay	2/6	OMIM:617602
25	ABL1	HP:0001263	Global developmental delay	-	OMIM:182212
25	ABL1	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
25	ABL1	HP:0002566	Intestinal malrotation	1/6	OMIM:617602
25	ABL1	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
25	ABL1	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
25	ABL1	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
25	ABL1	HP:0000098	Tall stature	-	OMIM:154700
25	ABL1	HP:0001377	Limited elbow extension	94/109	OMIM:121050
25	ABL1	HP:0001377	Limited elbow extension	29/199	OMIM:154700
25	ABL1	HP:0001371	Flexion contracture	-	OMIM:208050
25	ABL1	HP:0001371	Flexion contracture	-	OMIM:154700
25	ABL1	HP:0001382	Joint hypermobility	1/1	OMIM:130050
25	ABL1	HP:0001382	Joint hypermobility	12/14	OMIM:208050
25	ABL1	HP:0001382	Joint hypermobility	11/53	OMIM:154700
25	ABL1	HP:0001382	Joint hypermobility	3/6	OMIM:617602
25	ABL1	HP:0001382	Joint hypermobility	31/47	OMIM:182212
25	ABL1	HP:0000047	Hypospadias	2/4	OMIM:617602
25	ABL1	HP:0000023	Inguinal hernia	11/11	OMIM:130050
25	ABL1	HP:0000023	Inguinal hernia	8/15	OMIM:208050
25	ABL1	HP:0000023	Inguinal hernia	19/34	OMIM:182212
25	ABL1	HP:0001363	Craniosynostosis	18/37	OMIM:182212
25	ABL1	HP:0000028	Cryptorchidism	1/1	OMIM:130050
25	ABL1	HP:0000028	Cryptorchidism	1/4	OMIM:617602
25	ABL1	HP:0000028	Cryptorchidism	1/13	OMIM:182212
25	ABL1	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
25	ABL1	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
25	ABL1	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
25	ABL1	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
25	ABL1	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
25	ABL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
25	ABL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
25	ABL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617602
25	ABL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
25	ABL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
25	ABL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
25	ABL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
25	ABL1	HP:0002650	Scoliosis	16/53	OMIM:154700
25	ABL1	HP:0002650	Scoliosis	3/6	OMIM:617602
25	ABL1	HP:0002650	Scoliosis	11/15	OMIM:121050
25	ABL1	HP:0002650	Scoliosis	3/15	OMIM:208050
25	ABL1	HP:0002650	Scoliosis	23/37	OMIM:182212
25	ABL1	HP:0002647	Aortic dissection	1/58	OMIM:154700
25	ABL1	HP:0002619	Varicose veins	-	OMIM:130050
25	ABL1	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
25	ABL1	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
25	ABL1	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
25	ABL1	HP:0002616	Aortic root aneurysm	2/6	OMIM:617602
25	ABL1	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
25	ABL1	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
25	ABL1	HP:0000189	Narrow palate	-	OMIM:182212
25	ABL1	HP:0000189	Narrow palate	-	OMIM:154700
25	ABL1	HP:0000193	Bifid uvula	0/14	OMIM:208050
25	ABL1	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
25	ABL1	HP:0012151	Hemothorax	3/4	OMIM:130050
25	ABL1	HP:0000139	Uterine prolapse	-	OMIM:130050
25	ABL1	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
25	ABL1	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
25	ABL1	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
25	ABL1	HP:0001442	Typified by somatic mosaicism	-	OMIM:608232
25	ABL1	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
25	ABL1	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
25	ABL1	HP:0002714	Downturned corners of mouth	1/6	OMIM:617602
25	ABL1	HP:0002023	Anal atresia	1/6	OMIM:617602
25	ABL1	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
25	ABL1	HP:0002036	Hiatus hernia	-	OMIM:208050
25	ABL1	HP:0002010	Narrow maxilla	-	OMIM:617602
25	ABL1	HP:0002007	Frontal bossing	-	OMIM:121050
25	ABL1	HP:0002007	Frontal bossing	2/6	OMIM:617602
25	ABL1	HP:0002007	Frontal bossing	-	OMIM:182212
25	ABL1	HP:0003302	Spondylolisthesis	-	OMIM:154700
25	ABL1	HP:0002097	Emphysema	8/9	OMIM:130050
25	ABL1	HP:0002097	Emphysema	HP:0040283	OMIM:154700
25	ABL1	HP:0030961	Microspherophakia	2/53	OMIM:154700
25	ABL1	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
25	ABL1	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
25	ABL1	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
25	ABL1	HP:0010499	Patellar subluxation	12/22	OMIM:121050
25	ABL1	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
25	ABL1	HP:0002140	Ischemic stroke	-	OMIM:208050
25	ABL1	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
25	ABL1	HP:0002107	Pneumothorax	2/2	OMIM:130050
25	ABL1	HP:0002107	Pneumothorax	6/53	OMIM:154700
25	ABL1	HP:0002105	Hemoptysis	6/10	OMIM:130050
25	ABL1	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
25	ABL1	HP:0003593	Infantile onset	5/16	OMIM:208050
25	ABL1	HP:0003577	Congenital onset	6/6	OMIM:617602
25	ABL1	HP:0003577	Congenital onset	5/5	OMIM:121050
25	ABL1	HP:0003577	Congenital onset	12/26	OMIM:208050
25	ABL1	HP:0100718	Uterine rupture	-	OMIM:130050
25	ABL1	HP:0004872	Incisional hernia	-	OMIM:154700
25	ABL1	HP:0100775	Dural ectasia	112/140	OMIM:154700
25	ABL1	HP:0100749	Chest pain	1/2	OMIM:130050
25	ABL1	HP:0002293	Alopecia of scalp	-	OMIM:130050
25	ABL1	HP:0034671	Knee contracture	7/14	OMIM:121050
25	ABL1	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
25	ABL1	HP:0010648	Dermal translucency	3/3	OMIM:130050
25	ABL1	HP:0004852	Reduced leukocyte alkaline phosphatase	-	OMIM:608232
25	ABL1	HP:0004848	Ph-positive acute lymphoblastic leukemia	-	OMIM:608232
25	ABL1	HP:0007099	Chiari type I malformation	-	OMIM:182212
25	ABL1	HP:0025019	Arterial rupture	-	OMIM:130050
25	ABL1	HP:0001065	Striae distensae	11/53	OMIM:154700
25	ABL1	HP:0001030	Fragile skin	-	OMIM:130050
25	ABL1	HP:0001027	Soft, doughy skin	-	OMIM:208050
25	ABL1	HP:0100645	Cystocele	-	OMIM:130050
25	ABL1	HP:0001073	Cigarette-paper scars	-	OMIM:130050
25	ABL1	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
25	ABL1	HP:0001083	Ectopia lentis	119/251	OMIM:154700
25	ABL1	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
25	ABL1	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
25	ABL1	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
25	ABL1	HP:0010747	Medial flaring of the eyebrow	1/6	OMIM:617602
25	ABL1	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
25	ABL1	HP:0003623	Neonatal onset	3/16	OMIM:208050
25	ABL1	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
25	ABL1	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
25	ABL1	HP:0003621	Juvenile onset	2/16	OMIM:208050
25	ABL1	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
25	ABL1	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
25	ABL1	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
25	ABL1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
25	ABL1	HP:0004209	Clinodactyly of the 5th finger	2/6	OMIM:617602
25	ABL1	HP:0005506	Chronic myelogenous leukemia	-	OMIM:608232
25	ABL1	HP:0005547	Myeloproliferative disorder	HP:0040280	ORPHA:521
25	ABL1	HP:0001977	Abnormal thrombosis	-	OMIM:208050
25	ABL1	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:521
25	ABL1	HP:0001945	Fever	HP:0040282	ORPHA:521
25	ABL1	HP:0001903	Anemia	1/1	OMIM:130050
25	ABL1	HP:0001911	Abnormal granulocyte morphology	HP:0040282	ORPHA:521
25	ABL1	HP:0001912	Abnormal basophil morphology	HP:0040282	ORPHA:521
25	ABL1	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
25	ABL1	HP:0000678	Dental crowding	8/53	OMIM:154700
25	ABL1	HP:0000678	Dental crowding	2/6	OMIM:617602
25	ABL1	HP:0000689	Dental malocclusion	-	OMIM:182212
25	ABL1	HP:0000670	Carious teeth	1/6	OMIM:617602
25	ABL1	HP:0004322	Short stature	-	OMIM:130050
25	ABL1	HP:0004322	Short stature	4/6	OMIM:617602
25	ABL1	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
25	ABL1	HP:0003088	Premature osteoarthritis	-	OMIM:154700
25	ABL1	HP:0003083	Dislocated radial head	5/37	OMIM:182212
25	ABL1	HP:0003066	Limited knee extension	38/45	OMIM:121050
25	ABL1	HP:0004396	Poor appetite	HP:0040282	ORPHA:521
25	ABL1	HP:0003042	Elbow dislocation	1/12	OMIM:121050
25	ABL1	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
25	ABL1	HP:0005684	Distal arthrogryposis	-	OMIM:121050
25	ABL1	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
25	ABL1	HP:0000767	Pectus excavatum	2/14	OMIM:121050
25	ABL1	HP:0000767	Pectus excavatum	1/4	OMIM:130050
25	ABL1	HP:0000767	Pectus excavatum	3/15	OMIM:208050
25	ABL1	HP:0000767	Pectus excavatum	44/146	OMIM:154700
25	ABL1	HP:0000767	Pectus excavatum	4/6	OMIM:617602
25	ABL1	HP:0000767	Pectus excavatum	-	OMIM:182212
25	ABL1	HP:0000768	Pectus carinatum	4/14	OMIM:121050
25	ABL1	HP:0000768	Pectus carinatum	2/15	OMIM:208050
25	ABL1	HP:0000768	Pectus carinatum	58/146	OMIM:154700
25	ABL1	HP:0000768	Pectus carinatum	-	OMIM:182212
25	ABL1	HP:0000704	Periodontitis	-	OMIM:130050
25	ABL1	HP:0011463	Childhood onset	1/16	OMIM:208050
25	ABL1	HP:0011462	Young adult onset	3/16	OMIM:208050
25	ABL1	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
25	ABL1	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
25	ABL1	HP:0000776	Congenital diaphragmatic hernia	2/6	OMIM:617602
25	ABL1	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
25	ABL1	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
25	ABL1	HP:0030799	Scaphocephaly	-	OMIM:121050
25	ABL1	HP:0003199	Decreased muscle mass	-	OMIM:154700
25	ABL1	HP:0003196	Short nose	-	OMIM:617602
25	ABL1	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
25	ABL1	HP:0003189	Long nose	-	OMIM:617602
25	ABL1	HP:0004467	Preauricular pit	-	OMIM:187500
25	ABL1	HP:0000883	Thin ribs	-	OMIM:182212
25	ABL1	HP:0000822	Hypertension	-	OMIM:208050
25	ABL1	HP:0000895	Lateral clavicle hook	-	OMIM:182212
25	ABL1	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
25	ABL1	HP:0034391	Elbow contracture	10/14	OMIM:121050
25	ABL1	HP:0003273	Hip contracture	32/121	OMIM:121050
25	ABL1	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
25	ABL1	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
25	ABL1	HP:0000978	Bruising susceptibility	-	OMIM:208050
25	ABL1	HP:0000977	Soft skin	7/15	OMIM:208050
25	ABL1	HP:0000977	Soft skin	2/6	OMIM:617602
25	ABL1	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
25	ABL1	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
25	ABL1	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
25	ABL1	HP:0000973	Cutis laxa	5/14	OMIM:208050
25	ABL1	HP:0000965	Cutis marmorata	2/6	OMIM:617602
25	ABL1	HP:0000963	Thin skin	1/6	OMIM:617602
25	ABL1	HP:0000963	Thin skin	4/13	OMIM:208050
25	ABL1	HP:0000938	Osteopenia	-	OMIM:121050
25	ABL1	HP:0000938	Osteopenia	-	OMIM:182212
25	ABL1	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
25	ABL1	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
25	ABL1	HP:0025586	Hypertropia	8/573	OMIM:154700
25	ABL1	HP:0000278	Retrognathia	-	OMIM:154700
25	ABL1	HP:0000260	Wide anterior fontanel	-	OMIM:182212
25	ABL1	HP:0000275	Narrow face	-	OMIM:154700
25	ABL1	HP:0000276	Long face	14/14	OMIM:208050
25	ABL1	HP:0000276	Long face	-	OMIM:154700
25	ABL1	HP:0000272	Malar flattening	9/14	OMIM:208050
25	ABL1	HP:0000272	Malar flattening	31/53	OMIM:154700
25	ABL1	HP:0000268	Dolichocephaly	-	OMIM:121050
25	ABL1	HP:0000268	Dolichocephaly	36/53	OMIM:154700
25	ABL1	HP:0000268	Dolichocephaly	28/37	OMIM:182212
25	ABL1	HP:0005136	Mitral annular calcification	-	OMIM:154700
25	ABL1	HP:0002816	Genu recurvatum	-	OMIM:182212
25	ABL1	HP:0002816	Genu recurvatum	-	OMIM:154700
25	ABL1	HP:0002808	Kyphosis	1/6	OMIM:617602
25	ABL1	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
25	ABL1	HP:0000244	Brachyturricephaly	-	OMIM:182212
25	ABL1	HP:0000238	Hydrocephalus	13/37	OMIM:182212
25	ABL1	HP:0000252	Microcephaly	6/37	OMIM:182212
25	ABL1	HP:0000248	Brachycephaly	-	OMIM:121050
25	ABL1	HP:0000218	High palate	34/53	OMIM:154700
25	ABL1	HP:0000218	High palate	3/6	OMIM:617602
25	ABL1	HP:0000218	High palate	30/102	OMIM:121050
25	ABL1	HP:0000218	High palate	5/13	OMIM:208050
25	ABL1	HP:0000218	High palate	30/37	OMIM:182212
25	ABL1	HP:0000233	Thin vermilion border	-	OMIM:130050
25	ABL1	HP:0000233	Thin vermilion border	3/6	OMIM:617602
25	ABL1	HP:0030009	Cervical insufficiency	-	OMIM:130050
25	ABL1	HP:0002857	Genu valgum	4/37	OMIM:182212
25	ABL1	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
25	ABL1	HP:0001537	Umbilical hernia	-	OMIM:208050
25	ABL1	HP:0001537	Umbilical hernia	13/37	OMIM:182212
25	ABL1	HP:0031364	Ecchymosis	-	OMIM:130050
25	ABL1	HP:0001508	Failure to thrive	5/6	OMIM:617602
25	ABL1	HP:0001519	Disproportionate tall stature	-	OMIM:121050
25	ABL1	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
25	ABL1	HP:0001511	Intrauterine growth retardation	2/6	OMIM:617602
25	ABL1	HP:0007800	Increased axial length of the globe	-	OMIM:154700
25	ABL1	HP:0012378	Fatigue	HP:0040282	ORPHA:521
25	ABL1	HP:0012385	Camptodactyly	86/110	OMIM:121050
25	ABL1	HP:0012385	Camptodactyly	19/53	OMIM:154700
25	ABL1	HP:0012385	Camptodactyly	-	OMIM:617602
25	ABL1	HP:0012385	Camptodactyly	24/37	OMIM:182212
25	ABL1	HP:0000387	Absent earlobe	-	OMIM:130050
25	ABL1	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
25	ABL1	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
25	ABL1	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
25	ABL1	HP:0006522	Repeated pneumothoraces	2/6	OMIM:617602
25	ABL1	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
25	ABL1	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
25	ABL1	HP:0006480	Premature loss of teeth	-	OMIM:130050
25	ABL1	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
25	ABL1	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
25	ABL1	HP:0000369	Low-set ears	32/37	OMIM:182212
25	ABL1	HP:0000341	Narrow forehead	1/6	OMIM:617602
25	ABL1	HP:0000343	Long philtrum	-	OMIM:208050
25	ABL1	HP:0000337	Broad forehead	-	OMIM:187500
25	ABL1	HP:0000337	Broad forehead	-	OMIM:617602
25	ABL1	HP:0002999	Patellar dislocation	2/20	OMIM:121050
25	ABL1	HP:0001680	Coarctation of aorta	1/6	OMIM:617602
25	ABL1	HP:0000347	Micrognathia	-	OMIM:154700
25	ABL1	HP:0000347	Micrognathia	26/94	OMIM:121050
25	ABL1	HP:0000347	Micrognathia	5/14	OMIM:208050
25	ABL1	HP:0000347	Micrognathia	33/37	OMIM:182212
25	ABL1	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
25	ABL1	HP:0000319	Smooth philtrum	1/6	OMIM:617602
25	ABL1	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
25	ABL1	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
25	ABL1	HP:0000316	Hypertelorism	6/16	OMIM:208050
25	ABL1	HP:0000316	Hypertelorism	28/37	OMIM:182212
25	ABL1	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
25	ABL1	HP:0000331	Short chin	2/6	OMIM:617602
25	ABL1	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
25	ABL1	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
25	ABL1	HP:0001659	Aortic regurgitation	-	OMIM:208050
25	ABL1	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
25	ABL1	HP:0001653	Mitral regurgitation	-	OMIM:121050
25	ABL1	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
25	ABL1	HP:0001629	Ventricular septal defect	-	OMIM:121050
25	ABL1	HP:0001629	Ventricular septal defect	3/6	OMIM:617602
25	ABL1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
25	ABL1	HP:0001635	Congestive heart failure	-	OMIM:154700
25	ABL1	HP:0000307	Pointed chin	-	OMIM:617602
25	ABL1	HP:0001631	Atrial septal defect	-	OMIM:121050
25	ABL1	HP:0001631	Atrial septal defect	3/6	OMIM:617602
25	ABL1	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
25	ABL1	HP:0001634	Mitral valve prolapse	-	OMIM:130050
25	ABL1	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
25	ABL1	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
25	ABL1	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
25	ABL1	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
25	ABL1	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
25	ABL1	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
25	ABL1	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
25	ABL1	HP:0000400	Macrotia	7/15	OMIM:208050
25	ABL1	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
25	ABL1	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
25	ABL1	HP:0000483	Astigmatism	3/53	OMIM:154700
25	ABL1	HP:0000483	Astigmatism	5/15	OMIM:208050
25	ABL1	HP:0000486	Strabismus	110/573	OMIM:154700
25	ABL1	HP:0000486	Strabismus	17/37	OMIM:182212
25	ABL1	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
25	ABL1	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
25	ABL1	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
25	ABL1	HP:0000490	Deeply set eye	25/63	OMIM:154700
25	ABL1	HP:0000490	Deeply set eye	1/6	OMIM:617602
25	ABL1	HP:0000463	Anteverted nares	9/37	OMIM:182212
25	ABL1	HP:0000460	Narrow nose	-	OMIM:617602
25	ABL1	HP:0012450	Chronic constipation	3/6	OMIM:617602
25	ABL1	HP:0001786	Narrow foot	33/53	OMIM:154700
25	ABL1	HP:0000470	Short neck	-	OMIM:121050
25	ABL1	HP:0001763	Pes planus	27/53	OMIM:154700
25	ABL1	HP:0001763	Pes planus	1/6	OMIM:617602
25	ABL1	HP:0001763	Pes planus	-	OMIM:182212
25	ABL1	HP:0001765	Hammertoe	-	OMIM:154700
25	ABL1	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
25	ABL1	HP:0000418	Narrow nasal ridge	-	OMIM:130050
25	ABL1	HP:0001744	Splenomegaly	HP:0040282	ORPHA:521
25	ABL1	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
25	ABL1	HP:0001762	Talipes equinovarus	-	OMIM:130050
25	ABL1	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
25	ABL1	HP:0001761	Pes cavus	49/146	OMIM:154700
25	ABL1	HP:0000518	Cataract	118/199	OMIM:154700
25	ABL1	HP:0001840	Metatarsus adductus	-	OMIM:121050
25	ABL1	HP:0001840	Metatarsus adductus	-	OMIM:182212
25	ABL1	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
25	ABL1	HP:0001842	Foot acroosteolysis	-	OMIM:130050
25	ABL1	HP:0001852	Sandal gap	1/6	OMIM:617602
25	ABL1	HP:0000520	Proptosis	-	OMIM:187500
25	ABL1	HP:0000520	Proptosis	29/37	OMIM:182212
25	ABL1	HP:0000506	Telecanthus	-	OMIM:182212
25	ABL1	HP:0000508	Ptosis	16/37	OMIM:182212
25	ABL1	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
25	ABL1	HP:0000501	Glaucoma	29/625	OMIM:154700
25	ABL1	HP:0000582	Upslanted palpebral fissure	1/6	OMIM:617602
25	ABL1	HP:0000581	Blepharophimosis	-	OMIM:208050
25	ABL1	HP:0000577	Exotropia	72/626	OMIM:154700
25	ABL1	HP:0000586	Shallow orbits	13/37	OMIM:182212
25	ABL1	HP:0000563	Keratoconus	-	OMIM:130050
25	ABL1	HP:0000563	Keratoconus	3/14	OMIM:208050
25	ABL1	HP:0001894	Thrombocytosis	HP:0040282	ORPHA:521
25	ABL1	HP:0011220	Prominent forehead	17/37	OMIM:182212
25	ABL1	HP:0000565	Esotropia	12/573	OMIM:154700
25	ABL1	HP:0000541	Retinal detachment	-	OMIM:154700
25	ABL1	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040282	ORPHA:521
25	ABL1	HP:0001883	Talipes	13/53	OMIM:154700
25	ABL1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:521
25	ABL1	HP:0000545	Myopia	-	OMIM:121050
25	ABL1	HP:0000545	Myopia	6/15	OMIM:208050
25	ABL1	HP:0000545	Myopia	93/251	OMIM:154700
25	ABL1	HP:0000545	Myopia	9/37	OMIM:182212
31	ACACA	HP:0001252	Hypotonia	1/1	OMIM:613933
31	ACACA	HP:0001263	Global developmental delay	1/1	OMIM:613933
31	ACACA	HP:0000007	Autosomal recessive inheritance	-	OMIM:613933
31	ACACA	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:613933
31	ACACA	HP:6000430	Reduced tissue acetyl-CoA carboxylase activity	1/1	OMIM:613933
31	ACACA	HP:0003198	Myopathy	-	OMIM:613933
31	ACACA	HP:0001510	Growth delay	-	OMIM:613933
34	ACADM	HP:0003738	Exercise-induced myalgia	HP:0040282	ORPHA:42
34	ACADM	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:42
34	ACADM	HP:6000605	Elevated urinary 7-hydroxyoctanoic acid level	2/2	OMIM:201450
34	ACADM	HP:0001290	Generalized hypotonia	-	OMIM:201450
34	ACADM	HP:0001254	Lethargy	HP:0040283	ORPHA:42
34	ACADM	HP:0001254	Lethargy	-	OMIM:201450
34	ACADM	HP:0001250	Seizure	-	OMIM:201450
34	ACADM	HP:0001252	Hypotonia	HP:0040282	ORPHA:42
34	ACADM	HP:0001252	Hypotonia	-	OMIM:201450
34	ACADM	HP:0001251	Ataxia	HP:0040283	ORPHA:42
34	ACADM	HP:0001263	Global developmental delay	-	OMIM:201450
34	ACADM	HP:0001259	Coma	-	OMIM:201450
34	ACADM	HP:0001259	Coma	HP:0040283	ORPHA:42
34	ACADM	HP:0001397	Hepatic steatosis	-	OMIM:201450
34	ACADM	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:42
34	ACADM	HP:0000007	Autosomal recessive inheritance	-	OMIM:201450
34	ACADM	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:42
34	ACADM	HP:0001410	Decreased liver function	HP:0040282	ORPHA:42
34	ACADM	HP:0002014	Diarrhea	HP:0040283	ORPHA:42
34	ACADM	HP:0002013	Vomiting	-	OMIM:201450
34	ACADM	HP:0002013	Vomiting	HP:0040282	ORPHA:42
34	ACADM	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:42
34	ACADM	HP:0003394	Muscle spasm	HP:0040283	ORPHA:42
34	ACADM	HP:0003473	Fatigable weakness	HP:0040282	ORPHA:42
34	ACADM	HP:0011936	Decreased plasma total carnitine	HP:0040282	ORPHA:42
34	ACADM	HP:0002181	Cerebral edema	-	OMIM:201450
34	ACADM	HP:0002240	Hepatomegaly	-	OMIM:201450
34	ACADM	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:42
34	ACADM	HP:6000356	Reduced tissue medium-chain acyl-CoA dehydrogenase activity	3/3	OMIM:201450
34	ACADM	HP:0008309	Medium chain dicarboxylic aciduria	-	OMIM:201450
34	ACADM	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:42
34	ACADM	HP:0007185	Loss of consciousness	HP:0040283	ORPHA:42
34	ACADM	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:42
34	ACADM	HP:0001943	Hypoglycemia	-	OMIM:201450
34	ACADM	HP:0001946	Ketosis	HP:0040283	ORPHA:42
34	ACADM	HP:0001942	Metabolic acidosis	20/20	OMIM:201450
34	ACADM	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:42
34	ACADM	HP:0004326	Cachexia	HP:0040283	ORPHA:42
34	ACADM	HP:0005684	Distal arthrogryposis	HP:0040283	ORPHA:42
34	ACADM	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:42
34	ACADM	HP:0003108	Hyperglycinuria	-	OMIM:201450
34	ACADM	HP:0003198	Myopathy	HP:0040283	ORPHA:42
34	ACADM	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:42
34	ACADM	HP:0003234	Decreased circulating carnitine concentration	-	OMIM:201450
34	ACADM	HP:0003215	Dicarboxylic aciduria	HP:0040282	ORPHA:42
34	ACADM	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:42
34	ACADM	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:42
34	ACADM	HP:0040155	Elevated urinary 3-hydroxybutyric acid	HP:0040283	ORPHA:42
34	ACADM	HP:0011675	Arrhythmia	HP:0040283	ORPHA:42
34	ACADM	HP:0000256	Macrocephaly	HP:0040283	ORPHA:42
34	ACADM	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:42
34	ACADM	HP:0012378	Fatigue	HP:0040283	ORPHA:42
34	ACADM	HP:0030199	Fatigable weakness of neck muscles	HP:0040282	ORPHA:42
34	ACADM	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:42
34	ACADM	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:201450
34	ACADM	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:42
35	ACADS	HP:0410153	Increased level of methylsuccinic acid in urine	HP:0040282	ORPHA:26792
35	ACADS	HP:0007256	Abnormal pyramidal sign	3/7	OMIM:201470
35	ACADS	HP:0001276	Hypertonia	HP:0040284	ORPHA:26792
35	ACADS	HP:0001254	Lethargy	5/10	OMIM:201470
35	ACADS	HP:0001254	Lethargy	HP:0040283	ORPHA:26792
35	ACADS	HP:0001250	Seizure	-	OMIM:201470
35	ACADS	HP:0001250	Seizure	HP:0040283	ORPHA:26792
35	ACADS	HP:0001252	Hypotonia	8/10	OMIM:201470
35	ACADS	HP:0001251	Ataxia	1/8	OMIM:201470
35	ACADS	HP:0001263	Global developmental delay	8/10	OMIM:201470
35	ACADS	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:201470
35	ACADS	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:26792
35	ACADS	HP:0001371	Flexion contracture	-	OMIM:201470
35	ACADS	HP:0001332	Dystonia	HP:0040283	ORPHA:26792
35	ACADS	HP:0000007	Autosomal recessive inheritance	-	OMIM:201470
35	ACADS	HP:0002650	Scoliosis	-	OMIM:201470
35	ACADS	HP:0008947	Floppy infant	HP:0040282	ORPHA:26792
35	ACADS	HP:0002098	Respiratory distress	HP:0040283	ORPHA:26792
35	ACADS	HP:0003593	Infantile onset	4/10	OMIM:201470
35	ACADS	HP:0011968	Feeding difficulties	4/10	OMIM:201470
35	ACADS	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:26792
35	ACADS	HP:0010695	Sutural cataract	1/10	OMIM:201470
35	ACADS	HP:0003623	Neonatal onset	4/10	OMIM:201470
35	ACADS	HP:0004911	Episodic metabolic acidosis	-	OMIM:201470
35	ACADS	HP:0000648	Optic atrophy	HP:0040284	ORPHA:26792
35	ACADS	HP:0001942	Metabolic acidosis	HP:0040282	ORPHA:26792
35	ACADS	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:26792
35	ACADS	HP:0006929	Hypoglycemic encephalopathy	HP:0040283	ORPHA:26792
35	ACADS	HP:0012734	Ketotic hypoglycemia	HP:0040283	ORPHA:26792
35	ACADS	HP:0000750	Delayed speech and language development	5/9	OMIM:201470
35	ACADS	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:26792
35	ACADS	HP:0000709	Psychosis	2/7	OMIM:201470
35	ACADS	HP:0000708	Atypical behavior	HP:0040283	ORPHA:26792
35	ACADS	HP:0011463	Childhood onset	2/10	OMIM:201470
35	ACADS	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:26792
35	ACADS	HP:0003198	Myopathy	4/10	OMIM:201470
35	ACADS	HP:0003198	Myopathy	HP:0040283	ORPHA:26792
35	ACADS	HP:0003219	Ethylmalonic aciduria	-	OMIM:201470
35	ACADS	HP:0003219	Ethylmalonic aciduria	HP:0040282	ORPHA:26792
35	ACADS	HP:0045045	Elevated circulating acylcarnitine concentration	HP:0040282	ORPHA:26792
35	ACADS	HP:0000252	Microcephaly	HP:0040284	ORPHA:26792
35	ACADS	HP:0001508	Failure to thrive	-	OMIM:201470
35	ACADS	HP:0001508	Failure to thrive	HP:0040282	ORPHA:26792
35	ACADS	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:26792
35	ACADS	HP:0001638	Cardiomyopathy	1/10	OMIM:201470
35	ACADS	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:26792
35	ACADS	HP:0030319	Weakness of facial musculature	3/10	OMIM:201470
35	ACADS	HP:0000544	External ophthalmoplegia	1/10	OMIM:201470
36	ACADSB	HP:0003700	Generalized amyotrophy	1/1	OMIM:610006
36	ACADSB	HP:0001270	Motor delay	1/1	OMIM:610006
36	ACADSB	HP:0001254	Lethargy	-	OMIM:610006
36	ACADSB	HP:0001250	Seizure	-	OMIM:610006
36	ACADSB	HP:0001252	Hypotonia	1/1	OMIM:610006
36	ACADSB	HP:0001263	Global developmental delay	-	OMIM:610006
36	ACADSB	HP:0000007	Autosomal recessive inheritance	-	OMIM:610006
36	ACADSB	HP:0005949	Apneic episodes in infancy	-	OMIM:610006
36	ACADSB	HP:0002045	Hypothermia	-	OMIM:610006
36	ACADSB	HP:0033220	2-ethylhydracylic aciduria	1/1	OMIM:610006
36	ACADSB	HP:0003593	Infantile onset	-	OMIM:610006
36	ACADSB	HP:0001943	Hypoglycemia	-	OMIM:610006
36	ACADSB	HP:0011463	Childhood onset	1/1	OMIM:610006
36	ACADSB	HP:0000252	Microcephaly	-	OMIM:610006
36	ACADSB	HP:0000577	Exotropia	-	OMIM:610006
37	ACADVL	HP:0003738	Exercise-induced myalgia	-	OMIM:201475
37	ACADVL	HP:0001254	Lethargy	3/3	OMIM:201475
37	ACADVL	HP:0001254	Lethargy	HP:0040284	ORPHA:26793
37	ACADVL	HP:0001252	Hypotonia	3/3	OMIM:201475
37	ACADVL	HP:0002572	Episodic vomiting	3/3	OMIM:201475
37	ACADVL	HP:0001397	Hepatic steatosis	2/2	OMIM:201475
37	ACADVL	HP:0001324	Muscle weakness	-	OMIM:201475
37	ACADVL	HP:0000007	Autosomal recessive inheritance	-	OMIM:201475
37	ACADVL	HP:6000860	Diminished tissue very long-chain acyl-CoA dehydrogenase activity	-	OMIM:201475
37	ACADVL	HP:0008947	Floppy infant	HP:0040284	ORPHA:26793
37	ACADVL	HP:0002789	Tachypnea	-	OMIM:201475
37	ACADVL	HP:0002789	Tachypnea	HP:0040284	ORPHA:26793
37	ACADVL	HP:0001405	Periportal fibrosis	1/3	OMIM:201475
37	ACADVL	HP:0001404	Hepatocellular necrosis	-	OMIM:201475
37	ACADVL	HP:0002020	Gastroesophageal reflux	1/3	OMIM:201475
37	ACADVL	HP:0002013	Vomiting	HP:0040284	ORPHA:26793
37	ACADVL	HP:0005943	Respiratory arrest	2/3	OMIM:201475
37	ACADVL	HP:0002098	Respiratory distress	HP:0040283	ORPHA:26793
37	ACADVL	HP:0002090	Pneumonia	HP:0040284	ORPHA:26793
37	ACADVL	HP:0002069	Bilateral tonic-clonic seizure	1/3	OMIM:201475
37	ACADVL	HP:0003394	Muscle spasm	HP:0040284	ORPHA:26793
37	ACADVL	HP:0002045	Hypothermia	HP:0040283	ORPHA:26793
37	ACADVL	HP:0033165	Necrotizing enterocolitis	1/3	OMIM:201475
37	ACADVL	HP:0004756	Ventricular tachycardia	HP:0040284	ORPHA:26793
37	ACADVL	HP:0003593	Infantile onset	1/3	OMIM:201475
37	ACADVL	HP:0002240	Hepatomegaly	3/3	OMIM:201475
37	ACADVL	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:26793
37	ACADVL	HP:0003552	Muscle stiffness	-	OMIM:201475
37	ACADVL	HP:0002280	Enlarged cisterna magna	HP:0040284	ORPHA:26793
37	ACADVL	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:26793
37	ACADVL	HP:0008305	Exercise-induced myoglobinuria	-	OMIM:201475
37	ACADVL	HP:0003623	Neonatal onset	2/3	OMIM:201475
37	ACADVL	HP:0001942	Metabolic acidosis	HP:0040284	ORPHA:26793
37	ACADVL	HP:0001958	Nonketotic hypoglycemia	-	OMIM:201475
37	ACADVL	HP:0009045	Exercise-induced rhabdomyolysis	HP:0040283	ORPHA:26793
37	ACADVL	HP:0009045	Exercise-induced rhabdomyolysis	-	OMIM:201475
37	ACADVL	HP:0012664	Reduced left ventricular ejection fraction	1/3	OMIM:201475
37	ACADVL	HP:0001987	Hyperammonemia	3/3	OMIM:201475
37	ACADVL	HP:0001987	Hyperammonemia	HP:0040284	ORPHA:26793
37	ACADVL	HP:0001985	Hypoketotic hypoglycemia	HP:0040283	ORPHA:26793
37	ACADVL	HP:0003075	Hypoproteinemia	HP:0040284	ORPHA:26793
37	ACADVL	HP:0030781	Increased circulating free fatty acid level	HP:0040282	ORPHA:26793
37	ACADVL	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:201475
37	ACADVL	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:26793
37	ACADVL	HP:0003234	Decreased circulating carnitine concentration	3/3	OMIM:201475
37	ACADVL	HP:0003215	Dicarboxylic aciduria	-	OMIM:201475
37	ACADVL	HP:0000952	Jaundice	HP:0040283	ORPHA:26793
37	ACADVL	HP:0011675	Arrhythmia	HP:0040284	ORPHA:26793
37	ACADVL	HP:0000256	Macrocephaly	HP:0040284	ORPHA:26793
37	ACADVL	HP:0000252	Microcephaly	2/3	OMIM:201475
37	ACADVL	HP:0002876	Episodic tachypnea	HP:0040283	ORPHA:26793
37	ACADVL	HP:0001545	Anteriorly placed anus	HP:0040284	ORPHA:26793
37	ACADVL	HP:0025502	Overweight	HP:0040283	ORPHA:26793
37	ACADVL	HP:0001522	Death in infancy	1/3	OMIM:201475
37	ACADVL	HP:0001518	Small for gestational age	HP:0040283	ORPHA:26793
37	ACADVL	HP:0001513	Obesity	HP:0040284	ORPHA:26793
37	ACADVL	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:26793
37	ACADVL	HP:0002901	Hypocalcemia	HP:0040284	ORPHA:26793
37	ACADVL	HP:0001698	Pericardial effusion	HP:0040284	ORPHA:26793
37	ACADVL	HP:0001678	Atrioventricular block	HP:0040284	ORPHA:26793
37	ACADVL	HP:0001649	Tachycardia	HP:0040284	ORPHA:26793
37	ACADVL	HP:0001645	Sudden cardiac death	-	OMIM:201475
37	ACADVL	HP:0001644	Dilated cardiomyopathy	HP:0040284	ORPHA:26793
37	ACADVL	HP:0001663	Ventricular fibrillation	HP:0040284	ORPHA:26793
37	ACADVL	HP:0001657	Prolonged QT interval	HP:0040284	ORPHA:26793
37	ACADVL	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:26793
37	ACADVL	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:26793
37	ACADVL	HP:0001640	Cardiomegaly	2/3	OMIM:201475
37	ACADVL	HP:0001639	Hypertrophic cardiomyopathy	3/3	OMIM:201475
37	ACADVL	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:26793
37	ACADVL	HP:0011123	Inflammatory abnormality of the skin	HP:0040284	ORPHA:26793
37	ACADVL	HP:0012531	Pain	HP:0040284	ORPHA:26793
38	ACAT1	HP:0007308	Extrapyramidal dyskinesia	HP:0040283	ORPHA:134
38	ACAT1	HP:0010864	Intellectual disability, severe	HP:0040284	ORPHA:134
38	ACAT1	HP:6000603	Elevated urinary 2-methyl-3-hydroxybutyric acid level	1/1	OMIM:203750
38	ACAT1	HP:0001270	Motor delay	HP:0040283	ORPHA:134
38	ACAT1	HP:0001256	Intellectual disability, mild	HP:0040284	ORPHA:134
38	ACAT1	HP:0001250	Seizure	HP:0040283	ORPHA:134
38	ACAT1	HP:0001252	Hypotonia	HP:0040283	ORPHA:134
38	ACAT1	HP:0001251	Ataxia	HP:0040283	ORPHA:134
38	ACAT1	HP:0001249	Intellectual disability	-	OMIM:203750
38	ACAT1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:134
38	ACAT1	HP:0001262	Excessive daytime somnolence	HP:0040282	ORPHA:134
38	ACAT1	HP:0001257	Spasticity	HP:0040283	ORPHA:134
38	ACAT1	HP:0001259	Coma	HP:0040282	ORPHA:134
38	ACAT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:203750
38	ACAT1	HP:0002615	Hypotension	HP:0040283	ORPHA:134
38	ACAT1	HP:0002789	Tachypnea	HP:0040281	ORPHA:134
38	ACAT1	HP:0500001	Body odor	HP:0040283	ORPHA:134
38	ACAT1	HP:0002014	Diarrhea	HP:0040282	ORPHA:134
38	ACAT1	HP:0002013	Vomiting	HP:0040281	ORPHA:134
38	ACAT1	HP:0002013	Vomiting	-	OMIM:203750
38	ACAT1	HP:0005974	Episodic ketoacidosis	-	OMIM:203750
38	ACAT1	HP:0002039	Anorexia	HP:0040283	ORPHA:134
38	ACAT1	HP:0002151	Increased circulating lactate concentration	HP:0040283	ORPHA:134
38	ACAT1	HP:0002149	Hyperuricemia	HP:0040281	ORPHA:134
38	ACAT1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:134
38	ACAT1	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:134
38	ACAT1	HP:0001944	Dehydration	-	OMIM:203750
38	ACAT1	HP:0001944	Dehydration	HP:0040282	ORPHA:134
38	ACAT1	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:134
38	ACAT1	HP:0001945	Fever	HP:0040281	ORPHA:134
38	ACAT1	HP:0001942	Metabolic acidosis	HP:0040281	ORPHA:134
38	ACAT1	HP:0001941	Acidosis	HP:0040281	ORPHA:134
38	ACAT1	HP:0001993	Ketoacidosis	HP:0040282	ORPHA:134
38	ACAT1	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:134
38	ACAT1	HP:0003074	Hyperglycemia	HP:0040283	ORPHA:134
38	ACAT1	HP:0004372	Reduced consciousness	HP:0040282	ORPHA:134
38	ACAT1	HP:0012735	Cough	HP:0040282	ORPHA:134
38	ACAT1	HP:0000741	Apathy	HP:0040282	ORPHA:134
38	ACAT1	HP:0012705	Abnormal metabolic brain imaging by MRS	HP:0040283	ORPHA:134
38	ACAT1	HP:0000713	Agitation	HP:0040283	ORPHA:134
38	ACAT1	HP:0011446	Abnormality of mental function	HP:0040281	ORPHA:134
38	ACAT1	HP:4000204	Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts	-	OMIM:203750
38	ACAT1	HP:0000822	Hypertension	HP:0040283	ORPHA:134
38	ACAT1	HP:0000980	Pallor	HP:0040283	ORPHA:134
38	ACAT1	HP:0000969	Edema	HP:0040283	ORPHA:134
38	ACAT1	HP:0002919	Ketonuria	HP:0040281	ORPHA:134
38	ACAT1	HP:0001824	Weight loss	HP:0040283	ORPHA:134
38	ACAT1	HP:0001894	Thrombocytosis	HP:0040282	ORPHA:134
38	ACAT1	HP:0012523	Oral aversion	HP:0040283	ORPHA:134
39	ACAT2	HP:0003745	Sporadic	-	OMIM:614055
39	ACAT2	HP:0001290	Generalized hypotonia	-	OMIM:614055
39	ACAT2	HP:0001252	Hypotonia	-	OMIM:614055
39	ACAT2	HP:0001263	Global developmental delay	-	OMIM:614055
39	ACAT2	HP:0002072	Chorea	-	OMIM:614055
39	ACAT2	HP:0002151	Increased circulating lactate concentration	-	OMIM:614055
39	ACAT2	HP:0003542	Increased circulating pyruvate concentration	-	OMIM:614055
49	ACR	HP:6000501	Ruffled acrosome	2/2	OMIM:620500
49	ACR	HP:0000007	Autosomal recessive inheritance	-	OMIM:620500
49	ACR	HP:0011462	Young adult onset	2/2	OMIM:620500
49	ACR	HP:0003251	Male infertility	2/2	OMIM:620500
50	ACO2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
50	ACO2	HP:0010864	Intellectual disability, severe	8/8	OMIM:614559
50	ACO2	HP:0001272	Cerebellar atrophy	3/8	OMIM:614559
50	ACO2	HP:0001284	Areflexia	5/8	OMIM:614559
50	ACO2	HP:0001252	Hypotonia	7/8	OMIM:614559
50	ACO2	HP:0001251	Ataxia	8/8	OMIM:614559
50	ACO2	HP:0001265	Hyporeflexia	1/8	OMIM:614559
50	ACO2	HP:0007359	Focal-onset seizure	4/8	OMIM:614559
50	ACO2	HP:0002500	Abnormal cerebral white matter morphology	4/8	OMIM:614559
50	ACO2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
50	ACO2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614559
50	ACO2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616289
50	ACO2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
50	ACO2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
50	ACO2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
50	ACO2	HP:0007663	Reduced visual acuity	2/2	OMIM:616289
50	ACO2	HP:0002069	Bilateral tonic-clonic seizure	6/8	OMIM:614559
50	ACO2	HP:0002079	Hypoplasia of the corpus callosum	3/8	OMIM:614559
50	ACO2	HP:0002120	Cerebral cortical atrophy	6/8	OMIM:614559
50	ACO2	HP:0003593	Infantile onset	8/8	OMIM:614559
50	ACO2	HP:0007108	Demyelinating peripheral neuropathy	-	OMIM:614559
50	ACO2	HP:0002305	Athetosis	8/8	OMIM:614559
50	ACO2	HP:0003621	Juvenile onset	8/19	OMIM:180100
50	ACO2	HP:0003621	Juvenile onset	1/2	OMIM:616289
50	ACO2	HP:0030528	Paracentral scotoma	2/2	OMIM:616289
50	ACO2	HP:0000639	Nystagmus	5/8	OMIM:614559
50	ACO2	HP:0000648	Optic atrophy	2/2	OMIM:616289
50	ACO2	HP:0000648	Optic atrophy	7/8	OMIM:614559
50	ACO2	HP:0000642	Red-green dyschromatopsia	2/2	OMIM:616289
50	ACO2	HP:0011344	Severe global developmental delay	8/8	OMIM:614559
50	ACO2	HP:0000662	Nyctalopia	26/28	OMIM:180100
50	ACO2	HP:0004325	Decreased body weight	7/8	OMIM:614559
50	ACO2	HP:0011463	Childhood onset	3/19	OMIM:180100
50	ACO2	HP:0011463	Childhood onset	1/2	OMIM:616289
50	ACO2	HP:0011462	Young adult onset	8/19	OMIM:180100
50	ACO2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
50	ACO2	HP:0000253	Progressive microcephaly	-	OMIM:614559
50	ACO2	HP:0000252	Microcephaly	4/8	OMIM:614559
50	ACO2	HP:0001508	Failure to thrive	-	OMIM:614559
50	ACO2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
50	ACO2	HP:0000407	Sensorineural hearing impairment	2/8	OMIM:614559
50	ACO2	HP:0000486	Strabismus	5/8	OMIM:614559
50	ACO2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
50	ACO2	HP:0000505	Visual impairment	2/2	OMIM:616289
50	ACO2	HP:0000575	Scotoma	5/18	OMIM:180100
50	ACO2	HP:0000556	Retinal dystrophy	6/6	OMIM:614559
50	ACO2	HP:0000543	Optic disc pallor	2/2	OMIM:616289
50	ACO2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
50	ACO2	HP:0000545	Myopia	-	OMIM:180100
51	ACOX1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2971
51	ACOX1	HP:0007305	CNS demyelination	-	OMIM:264470
51	ACOX1	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:264470
51	ACOX1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2971
51	ACOX1	HP:0010864	Intellectual disability, severe	2/2	OMIM:264470
51	ACOX1	HP:0002415	Leukodystrophy	-	OMIM:264470
51	ACOX1	HP:0001298	Encephalopathy	-	OMIM:618960
51	ACOX1	HP:0001276	Hypertonia	HP:0040283	ORPHA:2971
51	ACOX1	HP:0001276	Hypertonia	-	OMIM:264470
51	ACOX1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:2971
51	ACOX1	HP:0001288	Gait disturbance	-	OMIM:618960
51	ACOX1	HP:0001250	Seizure	3/5	OMIM:264470
51	ACOX1	HP:0001250	Seizure	HP:0040281	ORPHA:2971
51	ACOX1	HP:0001250	Seizure	-	OMIM:618960
51	ACOX1	HP:0001252	Hypotonia	2/2	OMIM:264470
51	ACOX1	HP:0001252	Hypotonia	HP:0040281	ORPHA:2971
51	ACOX1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2971
51	ACOX1	HP:0008763	No social interaction	-	OMIM:264470
51	ACOX1	HP:0002522	Areflexia of lower limbs	-	OMIM:618960
51	ACOX1	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:618960
51	ACOX1	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:2971
51	ACOX1	HP:0001332	Dystonia	-	OMIM:264470
51	ACOX1	HP:0001344	Absent speech	-	OMIM:618960
51	ACOX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:264470
51	ACOX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618960
51	ACOX1	HP:0001319	Neonatal hypotonia	2/2	OMIM:264470
51	ACOX1	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:618960
51	ACOX1	HP:0002015	Dysphagia	1/3	OMIM:264470
51	ACOX1	HP:0002015	Dysphagia	-	OMIM:618960
51	ACOX1	HP:0002007	Frontal bossing	-	OMIM:264470
51	ACOX1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:2971
51	ACOX1	HP:0003390	Sensory axonal neuropathy	-	OMIM:618960
51	ACOX1	HP:0008167	Very long chain fatty acid accumulation	2/2	OMIM:264470
51	ACOX1	HP:0003487	Babinski sign	1/3	OMIM:264470
51	ACOX1	HP:6000217	Reduced circulating acyl-CoA oxidase activity	3/3	OMIM:264470
51	ACOX1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:2971
51	ACOX1	HP:0003593	Infantile onset	-	OMIM:264470
51	ACOX1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:2971
51	ACOX1	HP:0002240	Hepatomegaly	-	OMIM:264470
51	ACOX1	HP:0003690	Limb muscle weakness	-	OMIM:618960
51	ACOX1	HP:0002376	Developmental regression	HP:0040281	ORPHA:2971
51	ACOX1	HP:0002376	Developmental regression	3/3	OMIM:264470
51	ACOX1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:2971
51	ACOX1	HP:0003623	Neonatal onset	2/2	OMIM:264470
51	ACOX1	HP:0002312	Clumsiness	-	OMIM:618960
51	ACOX1	HP:0006887	Intellectual disability, progressive	-	OMIM:264470
51	ACOX1	HP:0000639	Nystagmus	HP:0040282	ORPHA:2971
51	ACOX1	HP:0000639	Nystagmus	-	OMIM:264470
51	ACOX1	HP:0000649	Abnormality of visual evoked potentials	HP:0040281	ORPHA:2971
51	ACOX1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:2971
51	ACOX1	HP:0000648	Optic atrophy	-	OMIM:264470
51	ACOX1	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:2971
51	ACOX1	HP:0011344	Severe global developmental delay	-	OMIM:264470
51	ACOX1	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	-	OMIM:264470
51	ACOX1	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:2971
51	ACOX1	HP:0000668	Hypodontia	HP:0040281	ORPHA:2971
51	ACOX1	HP:0000737	Irritability	-	OMIM:264470
51	ACOX1	HP:0003186	Inverted nipples	-	OMIM:264470
51	ACOX1	HP:0000286	Epicanthus	HP:0040282	ORPHA:2971
51	ACOX1	HP:0000286	Epicanthus	2/3	OMIM:264470
51	ACOX1	HP:0000248	Brachycephaly	-	OMIM:264470
51	ACOX1	HP:0001522	Death in infancy	HP:0040282	ORPHA:2971
51	ACOX1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2971
51	ACOX1	HP:0012391	Hyporeflexia of upper limbs	-	OMIM:618960
51	ACOX1	HP:0006555	Diffuse hepatic steatosis	-	OMIM:264470
51	ACOX1	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:264470
51	ACOX1	HP:0000369	Low-set ears	HP:0040282	ORPHA:2971
51	ACOX1	HP:0000369	Low-set ears	2/3	OMIM:264470
51	ACOX1	HP:0012332	Abnormal autonomic nervous system physiology	-	OMIM:618960
51	ACOX1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2971
51	ACOX1	HP:0000316	Hypertelorism	2/3	OMIM:264470
51	ACOX1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2971
51	ACOX1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:2971
51	ACOX1	HP:0005280	Depressed nasal bridge	2/3	OMIM:264470
51	ACOX1	HP:0000486	Strabismus	HP:0040282	ORPHA:2971
51	ACOX1	HP:0000486	Strabismus	-	OMIM:264470
51	ACOX1	HP:0000431	Wide nasal bridge	-	OMIM:264470
51	ACOX1	HP:0000510	Rod-cone dystrophy	-	OMIM:264470
51	ACOX1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:2971
51	ACOX1	HP:0000580	Pigmentary retinopathy	-	OMIM:264470
51	ACOX1	HP:0000545	Myopia	HP:0040282	ORPHA:2971
54	ACP5	HP:0002478	Progressive spastic quadriplegia	-	OMIM:607944
54	ACP5	HP:0032252	Granuloma	HP:0040283	ORPHA:1855
54	ACP5	HP:0009882	Short distal phalanx of finger	HP:0040283	ORPHA:1855
54	ACP5	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
54	ACP5	HP:0001293	Cranial nerve compression	-	OMIM:131300
54	ACP5	HP:0001270	Motor delay	HP:0040283	ORPHA:1855
54	ACP5	HP:0001256	Intellectual disability, mild	2/4	OMIM:607944
54	ACP5	HP:0001250	Seizure	HP:0040284	ORPHA:1855
54	ACP5	HP:0001252	Hypotonia	2/7	OMIM:615777
54	ACP5	HP:0001249	Intellectual disability	HP:0040283	ORPHA:1855
54	ACP5	HP:0001249	Intellectual disability	5/7	OMIM:615777
54	ACP5	HP:0001264	Spastic diplegia	-	OMIM:607944
54	ACP5	HP:0001263	Global developmental delay	HP:0040283	ORPHA:1855
54	ACP5	HP:0001263	Global developmental delay	7/25	OMIM:607944
54	ACP5	HP:0001263	Global developmental delay	-	OMIM:615777
54	ACP5	HP:0001257	Spasticity	11/25	OMIM:607944
54	ACP5	HP:0001257	Spasticity	HP:0040282	ORPHA:1855
54	ACP5	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:1855
54	ACP5	HP:0100866	Short iliac bones	3/4	OMIM:607944
54	ACP5	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:1855
54	ACP5	HP:0002515	Waddling gait	54/102	OMIM:131300
54	ACP5	HP:0002514	Cerebral calcification	9/14	OMIM:607944
54	ACP5	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:1855
54	ACP5	HP:0000093	Proteinuria	HP:0040283	ORPHA:1855
54	ACP5	HP:0001370	Rheumatoid arthritis	-	OMIM:607944
54	ACP5	HP:0001369	Arthritis	HP:0040283	ORPHA:1855
54	ACP5	HP:0001386	Joint swelling	3/4	OMIM:607944
54	ACP5	HP:0001382	Joint hypermobility	-	OMIM:615777
54	ACP5	HP:0002694	Sclerosis of skull base	1/4	OMIM:607944
54	ACP5	HP:0002694	Sclerosis of skull base	-	OMIM:131300
54	ACP5	HP:0008897	Postnatal growth retardation	-	OMIM:615777
54	ACP5	HP:0007526	Hypopigmented skin patches on arms	-	OMIM:607944
54	ACP5	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
54	ACP5	HP:0001324	Muscle weakness	40/96	OMIM:131300
54	ACP5	HP:0002657	Spondylometaphyseal dysplasia	-	OMIM:607944
54	ACP5	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
54	ACP5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
54	ACP5	HP:0000007	Autosomal recessive inheritance	-	OMIM:607944
54	ACP5	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
54	ACP5	HP:0002633	Vasculitis	HP:0040283	ORPHA:1855
54	ACP5	HP:0002650	Scoliosis	1/4	OMIM:607944
54	ACP5	HP:0002650	Scoliosis	12/14	OMIM:131300
54	ACP5	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
54	ACP5	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
54	ACP5	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
54	ACP5	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
54	ACP5	HP:0000175	Cleft palate	2/7	OMIM:615777
54	ACP5	HP:0012115	Hepatitis	HP:0040283	ORPHA:1855
54	ACP5	HP:0002751	Kyphoscoliosis	-	OMIM:607944
54	ACP5	HP:0002719	Recurrent infections	HP:0040283	ORPHA:1855
54	ACP5	HP:0002716	Lymphadenopathy	-	OMIM:607944
54	ACP5	HP:0002725	Systemic lupus erythematosus	7/26	OMIM:607944
54	ACP5	HP:0002725	Systemic lupus erythematosus	HP:0040283	ORPHA:1855
54	ACP5	HP:0003326	Myalgia	HP:0040283	ORPHA:1855
54	ACP5	HP:0002007	Frontal bossing	1/4	OMIM:607944
54	ACP5	HP:0003301	Irregular vertebral endplates	-	OMIM:607944
54	ACP5	HP:0011800	Midface retrusion	2/4	OMIM:607944
54	ACP5	HP:0011800	Midface retrusion	HP:0040284	ORPHA:1855
54	ACP5	HP:0002090	Pneumonia	-	OMIM:607944
54	ACP5	HP:0002090	Pneumonia	HP:0040284	ORPHA:1855
54	ACP5	HP:0002091	Restrictive ventilatory defect	-	OMIM:607944
54	ACP5	HP:0002072	Chorea	HP:0040283	ORPHA:1855
54	ACP5	HP:0003388	Easy fatigability	36/76	OMIM:131300
54	ACP5	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
54	ACP5	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:1855
54	ACP5	HP:0003493	Antinuclear antibody positivity	21/22	OMIM:607944
54	ACP5	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:1855
54	ACP5	HP:0003577	Congenital onset	2/4	OMIM:607944
54	ACP5	HP:0002205	Recurrent respiratory infections	3/25	OMIM:607944
54	ACP5	HP:0003510	Severe short stature	7/7	OMIM:615777
54	ACP5	HP:0003521	Disproportionate short-trunk short stature	HP:0040283	ORPHA:1855
54	ACP5	HP:0001034	Hypermelanotic macule	-	OMIM:607944
54	ACP5	HP:0001045	Vitiligo	-	OMIM:607944
54	ACP5	HP:0001045	Vitiligo	HP:0040284	ORPHA:1855
54	ACP5	HP:0004979	Metaphyseal sclerosis	-	OMIM:607944
54	ACP5	HP:0002315	Headache	-	OMIM:131300
54	ACP5	HP:0002315	Headache	HP:0040283	ORPHA:1855
54	ACP5	HP:0004976	Knee dislocation	6/7	OMIM:615777
54	ACP5	HP:0009826	Limb undergrowth	HP:0040283	ORPHA:1855
54	ACP5	HP:0009803	Short phalanx of finger	-	OMIM:615777
54	ACP5	HP:0009763	Limb pain	63/92	OMIM:131300
54	ACP5	HP:0003621	Juvenile onset	-	OMIM:607944
54	ACP5	HP:0003621	Juvenile onset	-	OMIM:131300
54	ACP5	HP:0020151	Anti-dsDNA antibody positivity	HP:0040282	ORPHA:1855
54	ACP5	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
54	ACP5	HP:0005576	Tubulointerstitial fibrosis	-	OMIM:607944
54	ACP5	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
54	ACP5	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:1855
54	ACP5	HP:6001056	Out-toeing	-	OMIM:131300
54	ACP5	HP:0000651	Diplopia	-	OMIM:131300
54	ACP5	HP:0001973	Autoimmune thrombocytopenia	12/26	OMIM:607944
54	ACP5	HP:0001973	Autoimmune thrombocytopenia	HP:0040283	ORPHA:1855
54	ACP5	HP:0001956	Truncal obesity	2/7	OMIM:615777
54	ACP5	HP:0001903	Anemia	HP:0040283	OMIM:131300
54	ACP5	HP:0010049	Short metacarpal	-	OMIM:615777
54	ACP5	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:1855
54	ACP5	HP:0000678	Dental crowding	-	OMIM:615777
54	ACP5	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:1855
54	ACP5	HP:0000670	Carious teeth	-	OMIM:131300
54	ACP5	HP:0011304	Broad thumb	2/7	OMIM:615777
54	ACP5	HP:0000668	Hypodontia	-	OMIM:615777
54	ACP5	HP:0000664	Synophrys	-	OMIM:615777
54	ACP5	HP:0004322	Short stature	HP:0040282	ORPHA:1855
54	ACP5	HP:0004322	Short stature	4/4	OMIM:607944
54	ACP5	HP:0004396	Poor appetite	-	OMIM:131300
54	ACP5	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
54	ACP5	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
54	ACP5	HP:0003016	Metaphyseal widening	4/4	OMIM:607944
54	ACP5	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
54	ACP5	HP:0003026	Short long bone	7/7	OMIM:615777
54	ACP5	HP:0003025	Metaphyseal irregularity	-	OMIM:607944
54	ACP5	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
54	ACP5	HP:0005681	Juvenile rheumatoid arthritis	-	OMIM:607944
54	ACP5	HP:0005681	Juvenile rheumatoid arthritis	HP:0040283	ORPHA:1855
54	ACP5	HP:0000767	Pectus excavatum	2/7	OMIM:615777
54	ACP5	HP:0000768	Pectus carinatum	HP:0040284	ORPHA:1855
54	ACP5	HP:0000768	Pectus carinatum	1/7	OMIM:615777
54	ACP5	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
54	ACP5	HP:0000750	Delayed speech and language development	-	OMIM:615777
54	ACP5	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:1855
54	ACP5	HP:0011463	Childhood onset	2/4	OMIM:607944
54	ACP5	HP:0011461	Fetal onset	7/7	OMIM:615777
54	ACP5	HP:0000774	Narrow chest	2/7	OMIM:615777
54	ACP5	HP:0000790	Hematuria	HP:0040283	ORPHA:1855
54	ACP5	HP:0000926	Platyspondyly	28/29	OMIM:607944
54	ACP5	HP:0000926	Platyspondyly	HP:0040281	ORPHA:1855
54	ACP5	HP:0000926	Platyspondyly	1/7	OMIM:615777
54	ACP5	HP:0003180	Flat acetabular roof	-	OMIM:615777
54	ACP5	HP:0004482	Relative macrocephaly	-	OMIM:615777
54	ACP5	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
54	ACP5	HP:0000822	Hypertension	HP:0040283	ORPHA:1855
54	ACP5	HP:0000821	Hypothyroidism	-	OMIM:607944
54	ACP5	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:1855
54	ACP5	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040284	ORPHA:1855
54	ACP5	HP:0000823	Delayed puberty	-	OMIM:131300
54	ACP5	HP:0000894	Short clavicles	-	OMIM:615777
54	ACP5	HP:0030880	Raynaud phenomenon	6/51	OMIM:607944
54	ACP5	HP:0030880	Raynaud phenomenon	HP:0040283	ORPHA:1855
54	ACP5	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
54	ACP5	HP:0100255	Metaphyseal dysplasia	24/25	OMIM:607944
54	ACP5	HP:0100255	Metaphyseal dysplasia	HP:0040281	ORPHA:1855
54	ACP5	HP:0000979	Purpura	-	OMIM:607944
54	ACP5	HP:0000988	Skin rash	HP:0040284	ORPHA:1855
54	ACP5	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
54	ACP5	HP:0000946	Hypoplastic ilia	HP:0040283	ORPHA:1855
54	ACP5	HP:0000286	Epicanthus	1/7	OMIM:615777
54	ACP5	HP:0000280	Coarse facial features	2/7	OMIM:615777
54	ACP5	HP:0000262	Turricephaly	1/4	OMIM:607944
54	ACP5	HP:0002827	Hip dislocation	3/7	OMIM:615777
54	ACP5	HP:0002808	Kyphosis	HP:0040284	ORPHA:1855
54	ACP5	HP:0000252	Microcephaly	-	OMIM:615777
54	ACP5	HP:0001552	Barrel-shaped chest	2/4	OMIM:607944
54	ACP5	HP:0002857	Genu valgum	-	OMIM:131300
54	ACP5	HP:0001533	Slender build	-	OMIM:131300
54	ACP5	HP:0030038	Enchondroma	HP:0040283	ORPHA:1855
54	ACP5	HP:0030047	Abnormal lateral ventricle morphology	HP:0040283	ORPHA:1855
54	ACP5	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
54	ACP5	HP:0007807	Optic nerve compression	-	OMIM:131300
54	ACP5	HP:0012368	Flat face	7/7	OMIM:615777
54	ACP5	HP:0002938	Lumbar hyperlordosis	3/4	OMIM:607944
54	ACP5	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
54	ACP5	HP:0000365	Hearing impairment	10/67	OMIM:131300
54	ACP5	HP:0000369	Low-set ears	-	OMIM:607944
54	ACP5	HP:0000343	Long philtrum	1/7	OMIM:615777
54	ACP5	HP:0011001	Increased bone mineral density	-	OMIM:131300
54	ACP5	HP:0002979	Bowing of the legs	HP:0040283	ORPHA:1855
54	ACP5	HP:0000311	Round face	2/7	OMIM:615777
54	ACP5	HP:0002960	Autoimmunity	-	OMIM:607944
54	ACP5	HP:0002960	Autoimmunity	HP:0040282	ORPHA:1855
54	ACP5	HP:0002958	Immune dysregulation	-	OMIM:607944
54	ACP5	HP:0002970	Genu varum	-	OMIM:615777
54	ACP5	HP:0000303	Mandibular prognathia	-	OMIM:131300
54	ACP5	HP:0030320	Increased intervertebral space	2/4	OMIM:607944
54	ACP5	HP:0005374	Cellular immunodeficiency	-	OMIM:607944
54	ACP5	HP:0005387	Combined immunodeficiency	-	OMIM:607944
54	ACP5	HP:0000403	Recurrent otitis media	-	OMIM:607944
54	ACP5	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
54	ACP5	HP:0000460	Narrow nose	-	OMIM:607944
54	ACP5	HP:0000470	Short neck	1/7	OMIM:615777
54	ACP5	HP:0011108	Recurrent sinusitis	-	OMIM:607944
54	ACP5	HP:0001769	Broad foot	HP:0040283	OMIM:615777
54	ACP5	HP:0001763	Pes planus	1/7	OMIM:615777
54	ACP5	HP:0005403	Decreased total T cell count	-	OMIM:607944
54	ACP5	HP:0001840	Metatarsus adductus	-	OMIM:615777
54	ACP5	HP:0000520	Proptosis	2/4	OMIM:131300
54	ACP5	HP:0000520	Proptosis	7/7	OMIM:615777
54	ACP5	HP:0000592	Blue sclerae	2/7	OMIM:615777
54	ACP5	HP:0001890	Autoimmune hemolytic anemia	HP:0040283	ORPHA:1855
54	ACP5	HP:0001888	Decreased total lymphocyte count	6/13	OMIM:607944
54	ACP5	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
54	ACP5	HP:0012514	Lower limb pain	4/4	OMIM:131300
54	ACP5	HP:0012514	Lower limb pain	HP:0040283	ORPHA:1855
54	ACP5	HP:0001876	Pancytopenia	HP:0040284	ORPHA:1855
54	ACP5	HP:0001875	Decreased total neutrophil count	3/8	OMIM:607944
58	ACTA1	HP:0001181	Adducted thumb	HP:0040283	ORPHA:171430
58	ACTA1	HP:0002483	Bulbar signs	HP:0040283	ORPHA:171439
58	ACTA1	HP:0002460	Distal muscle weakness	HP:0040281	ORPHA:97240
58	ACTA1	HP:0003798	Nemaline bodies	HP:0040281	ORPHA:97240
58	ACTA1	HP:0003798	Nemaline bodies	HP:0040281	ORPHA:171439
58	ACTA1	HP:0003798	Nemaline bodies	3/3	OMIM:620265
58	ACTA1	HP:0003798	Nemaline bodies	-	OMIM:161800
58	ACTA1	HP:0003798	Nemaline bodies	HP:0040283	ORPHA:171436
58	ACTA1	HP:0003798	Nemaline bodies	HP:0040281	ORPHA:171433
58	ACTA1	HP:0003798	Nemaline bodies	HP:0040282	ORPHA:171430
58	ACTA1	HP:0003798	Nemaline bodies	0/5	OMIM:616852
58	ACTA1	HP:0003798	Nemaline bodies	2/2	OMIM:620278
58	ACTA1	HP:0002421	Poor head control	HP:0040282	ORPHA:97244
58	ACTA1	HP:0002421	Poor head control	7/7	OMIM:620265
58	ACTA1	HP:0002421	Poor head control	HP:0040282	ORPHA:2020
58	ACTA1	HP:0003749	Pelvic girdle muscle weakness	HP:0040283	ORPHA:2020
58	ACTA1	HP:0003722	Neck flexor weakness	-	OMIM:161800
58	ACTA1	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:171436
58	ACTA1	HP:0003722	Neck flexor weakness	12/12	OMIM:616852
58	ACTA1	HP:0003736	Autophagic vacuoles	HP:0040281	ORPHA:97240
58	ACTA1	HP:0003701	Proximal muscle weakness	-	OMIM:161800
58	ACTA1	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:97240
58	ACTA1	HP:0003715	Myofibrillar myopathy	HP:0040281	ORPHA:97240
58	ACTA1	HP:0003713	Muscle fiber necrosis	HP:0040282	ORPHA:97240
58	ACTA1	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:97244
58	ACTA1	HP:0001290	Generalized hypotonia	7/7	OMIM:620265
58	ACTA1	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:171439
58	ACTA1	HP:0001276	Hypertonia	HP:0040283	OMIM:161800
58	ACTA1	HP:0001270	Motor delay	-	OMIM:161800
58	ACTA1	HP:0001270	Motor delay	HP:0040282	ORPHA:171433
58	ACTA1	HP:0001270	Motor delay	HP:0040282	ORPHA:171430
58	ACTA1	HP:0001270	Motor delay	2/3	OMIM:620278
58	ACTA1	HP:0001270	Motor delay	HP:0040282	ORPHA:2020
58	ACTA1	HP:0001270	Motor delay	HP:0040282	ORPHA:171439
58	ACTA1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:171436
58	ACTA1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:171433
58	ACTA1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:171439
58	ACTA1	HP:0001283	Bulbar palsy	-	OMIM:161800
58	ACTA1	HP:0001284	Areflexia	HP:0040283	ORPHA:171433
58	ACTA1	HP:0001284	Areflexia	3/3	OMIM:620278
58	ACTA1	HP:0001284	Areflexia	HP:0040282	ORPHA:2020
58	ACTA1	HP:0001284	Areflexia	-	OMIM:161800
58	ACTA1	HP:0001284	Areflexia	HP:0040283	ORPHA:171439
58	ACTA1	HP:0001284	Areflexia	-	OMIM:616852
58	ACTA1	HP:0001252	Hypotonia	HP:0040281	ORPHA:2020
58	ACTA1	HP:0001252	Hypotonia	3/3	OMIM:620265
58	ACTA1	HP:0001252	Hypotonia	1/1	OMIM:620278
58	ACTA1	HP:0001265	Hyporeflexia	-	OMIM:161800
58	ACTA1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:97244
58	ACTA1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:171436
58	ACTA1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:171433
58	ACTA1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:171439
58	ACTA1	HP:0001265	Hyporeflexia	-	OMIM:616852
58	ACTA1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:97240
58	ACTA1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:97244
58	ACTA1	HP:0002515	Waddling gait	HP:0040281	ORPHA:97240
58	ACTA1	HP:0002515	Waddling gait	HP:0040283	ORPHA:97244
58	ACTA1	HP:0002515	Waddling gait	HP:0040283	ORPHA:171436
58	ACTA1	HP:0002515	Waddling gait	-	OMIM:161800
58	ACTA1	HP:0002515	Waddling gait	HP:0040283	ORPHA:171439
58	ACTA1	HP:0003805	Rimmed vacuoles	HP:0040281	ORPHA:97240
58	ACTA1	HP:0003803	Type 1 muscle fiber predominance	-	OMIM:161800
58	ACTA1	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171436
58	ACTA1	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171433
58	ACTA1	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171430
58	ACTA1	HP:0003803	Type 1 muscle fiber predominance	2/2	OMIM:620278
58	ACTA1	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171439
58	ACTA1	HP:0003819	Death in childhood	1/7	OMIM:620265
58	ACTA1	HP:0003819	Death in childhood	1/3	OMIM:620278
58	ACTA1	HP:0003811	Neonatal death	2/2	OMIM:620265
58	ACTA1	HP:0003810	Late-onset distal muscle weakness	-	OMIM:161800
58	ACTA1	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:2020
58	ACTA1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:171436
58	ACTA1	HP:0001371	Flexion contracture	HP:0040282	ORPHA:171433
58	ACTA1	HP:0001371	Flexion contracture	HP:0040282	ORPHA:171430
58	ACTA1	HP:0001371	Flexion contracture	HP:0040282	ORPHA:2020
58	ACTA1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:171439
58	ACTA1	HP:0025336	Delayed ability to sit	7/7	OMIM:620265
58	ACTA1	HP:0000054	Micropenis	HP:0040283	ORPHA:171430
58	ACTA1	HP:0000047	Hypospadias	HP:0040283	ORPHA:171430
58	ACTA1	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171439
58	ACTA1	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171436
58	ACTA1	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171433
58	ACTA1	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171430
58	ACTA1	HP:0001347	Hyperreflexia	HP:0040283	OMIM:161800
58	ACTA1	HP:0008872	Feeding difficulties in infancy	-	OMIM:161800
58	ACTA1	HP:0007514	Edema of the dorsum of hands	HP:0040283	ORPHA:171430
58	ACTA1	HP:0012084	Abnormality of skeletal muscle fiber size	1/1	OMIM:620278
58	ACTA1	HP:0031189	Wrist drop	10/11	OMIM:616852
58	ACTA1	HP:0001342	Cerebral hemorrhage	1/1	OMIM:620278
58	ACTA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:161800
58	ACTA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620265
58	ACTA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:161800
58	ACTA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620278
58	ACTA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616852
58	ACTA1	HP:0002650	Scoliosis	-	OMIM:161800
58	ACTA1	HP:0002650	Scoliosis	HP:0040281	ORPHA:97244
58	ACTA1	HP:0002650	Scoliosis	HP:0040283	ORPHA:171436
58	ACTA1	HP:0002650	Scoliosis	HP:0040283	ORPHA:2020
58	ACTA1	HP:0002650	Scoliosis	HP:0040283	ORPHA:171439
58	ACTA1	HP:0002650	Scoliosis	0/5	OMIM:616852
58	ACTA1	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:171436
58	ACTA1	HP:0001319	Neonatal hypotonia	-	OMIM:161800
58	ACTA1	HP:0001319	Neonatal hypotonia	HP:0040281	ORPHA:97240
58	ACTA1	HP:0001315	Reduced tendon reflexes	-	OMIM:616852
58	ACTA1	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:2020
58	ACTA1	HP:0002705	High, narrow palate	HP:0040283	ORPHA:171433
58	ACTA1	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:171439
58	ACTA1	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:2020
58	ACTA1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:2020
58	ACTA1	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:161800
58	ACTA1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:171439
58	ACTA1	HP:0003327	Axial muscle weakness	HP:0040281	ORPHA:97240
58	ACTA1	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:171436
58	ACTA1	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:171430
58	ACTA1	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:171436
58	ACTA1	HP:0002015	Dysphagia	-	OMIM:161800
58	ACTA1	HP:0002015	Dysphagia	6/7	OMIM:620265
58	ACTA1	HP:0002015	Dysphagia	HP:0040282	ORPHA:171433
58	ACTA1	HP:0002015	Dysphagia	HP:0040282	ORPHA:171430
58	ACTA1	HP:0002015	Dysphagia	1/3	OMIM:620278
58	ACTA1	HP:0002015	Dysphagia	HP:0040282	ORPHA:2020
58	ACTA1	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:97244
58	ACTA1	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:171436
58	ACTA1	HP:0003307	Hyperlordosis	-	OMIM:616852
58	ACTA1	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:2020
58	ACTA1	HP:0003307	Hyperlordosis	-	OMIM:161800
58	ACTA1	HP:0003306	Spinal rigidity	HP:0040281	ORPHA:97244
58	ACTA1	HP:0003306	Spinal rigidity	-	OMIM:161800
58	ACTA1	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:171436
58	ACTA1	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:171439
58	ACTA1	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:2020
58	ACTA1	HP:0003323	Progressive muscle weakness	-	OMIM:616852
58	ACTA1	HP:0003324	Generalized muscle weakness	3/3	OMIM:620265
58	ACTA1	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:171433
58	ACTA1	HP:0003324	Generalized muscle weakness	3/3	OMIM:620278
58	ACTA1	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:2020
58	ACTA1	HP:0003324	Generalized muscle weakness	-	OMIM:161800
58	ACTA1	HP:0011807	Type 1 muscle fiber atrophy	HP:0040281	ORPHA:2020
58	ACTA1	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:171430
58	ACTA1	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:2020
58	ACTA1	HP:0002098	Respiratory distress	1/3	OMIM:620278
58	ACTA1	HP:0002093	Respiratory insufficiency	2/2	OMIM:620265
58	ACTA1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:171436
58	ACTA1	HP:0002093	Respiratory insufficiency	-	OMIM:161800
58	ACTA1	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:97244
58	ACTA1	HP:0002090	Pneumonia	HP:0040282	ORPHA:97244
58	ACTA1	HP:0002067	Bradykinesia	HP:0040282	ORPHA:171439
58	ACTA1	HP:0002068	Neuromuscular dysphagia	HP:0040282	ORPHA:171439
58	ACTA1	HP:0002063	Rigidity	HP:0040283	OMIM:161800
58	ACTA1	HP:0003391	Gowers sign	HP:0040281	ORPHA:97240
58	ACTA1	HP:0003391	Gowers sign	HP:0040283	ORPHA:97244
58	ACTA1	HP:0002058	Myopathic facies	-	OMIM:161800
58	ACTA1	HP:0002058	Myopathic facies	HP:0040282	ORPHA:171433
58	ACTA1	HP:0002058	Myopathic facies	HP:0040282	ORPHA:2020
58	ACTA1	HP:0003388	Easy fatigability	HP:0040282	ORPHA:2020
58	ACTA1	HP:0008180	Mildly elevated creatine kinase	2/7	OMIM:620265
58	ACTA1	HP:0008180	Mildly elevated creatine kinase	-	OMIM:161800
58	ACTA1	HP:0008180	Mildly elevated creatine kinase	HP:0040283	ORPHA:171439
58	ACTA1	HP:0040288	Nasogastric tube feeding	1/3	OMIM:620278
58	ACTA1	HP:0009473	Joint contracture of the hand	1/1	OMIM:620278
58	ACTA1	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:97240
58	ACTA1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:171433
58	ACTA1	HP:0003458	EMG: myopathic abnormalities	-	OMIM:161800
58	ACTA1	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:171439
58	ACTA1	HP:0003445	EMG: neuropathic changes	-	OMIM:161800
58	ACTA1	HP:0011842	Abnormal skeletal morphology	HP:0040281	ORPHA:97244
58	ACTA1	HP:0011842	Abnormal skeletal morphology	HP:0040282	ORPHA:2020
58	ACTA1	HP:0003593	Infantile onset	-	OMIM:616852
58	ACTA1	HP:0003577	Congenital onset	10/10	OMIM:620265
58	ACTA1	HP:0003577	Congenital onset	5/7	OMIM:620278
58	ACTA1	HP:0003555	Muscle fiber splitting	HP:0040281	ORPHA:97240
58	ACTA1	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:171439
58	ACTA1	HP:0003551	Difficulty climbing stairs	HP:0040281	ORPHA:97240
58	ACTA1	HP:0003547	Shoulder girdle muscle weakness	HP:0040283	ORPHA:2020
58	ACTA1	HP:0004878	Intercostal muscle weakness	HP:0040283	ORPHA:2020
58	ACTA1	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:171439
58	ACTA1	HP:0004887	Respiratory failure requiring assisted ventilation	1/1	OMIM:620265
58	ACTA1	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:620265
58	ACTA1	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:171436
58	ACTA1	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:616852
58	ACTA1	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:171439
58	ACTA1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:2020
58	ACTA1	HP:0034671	Knee contracture	1/3	OMIM:620278
58	ACTA1	HP:0007010	Poor fine motor coordination	-	ORPHA:171439
58	ACTA1	HP:0011968	Feeding difficulties	9/9	OMIM:620265
58	ACTA1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:171436
58	ACTA1	HP:0011968	Feeding difficulties	3/3	OMIM:620278
58	ACTA1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2020
58	ACTA1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:171439
58	ACTA1	HP:0010628	Facial palsy	HP:0040281	ORPHA:97240
58	ACTA1	HP:0010628	Facial palsy	HP:0040282	ORPHA:171436
58	ACTA1	HP:0010628	Facial palsy	HP:0040282	ORPHA:171433
58	ACTA1	HP:0010628	Facial palsy	HP:0040282	ORPHA:171430
58	ACTA1	HP:0010628	Facial palsy	-	OMIM:616852
58	ACTA1	HP:0010628	Facial palsy	-	OMIM:161800
58	ACTA1	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:2020
58	ACTA1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:2020
58	ACTA1	HP:0003691	Scapular winging	9/11	OMIM:616852
58	ACTA1	HP:0003691	Scapular winging	HP:0040283	ORPHA:171439
58	ACTA1	HP:0003690	Limb muscle weakness	-	OMIM:161800
58	ACTA1	HP:0003690	Limb muscle weakness	HP:0040282	ORPHA:171439
58	ACTA1	HP:0002359	Frequent falls	-	OMIM:161800
58	ACTA1	HP:0002375	Hypokinesia	HP:0040283	ORPHA:171436
58	ACTA1	HP:0002375	Hypokinesia	HP:0040282	ORPHA:171433
58	ACTA1	HP:0002375	Hypokinesia	HP:0040282	ORPHA:171430
58	ACTA1	HP:0003687	Centrally nucleated skeletal muscle fibers	-	OMIM:616852
58	ACTA1	HP:0003677	Slowly progressive	-	OMIM:616852
58	ACTA1	HP:0002315	Headache	HP:0040283	ORPHA:2020
58	ACTA1	HP:0033454	Tube feeding	1/1	OMIM:620278
58	ACTA1	HP:0003623	Neonatal onset	1/3	OMIM:620278
58	ACTA1	HP:0002312	Clumsiness	HP:0040282	ORPHA:171439
58	ACTA1	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:171433
58	ACTA1	HP:0006829	Severe muscular hypotonia	HP:0040282	ORPHA:171430
58	ACTA1	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:171433
58	ACTA1	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:171430
58	ACTA1	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2020
58	ACTA1	HP:0009055	Generalized limb muscle atrophy	HP:0040282	ORPHA:171439
58	ACTA1	HP:0009058	Increased muscle lipid content	HP:0040282	ORPHA:171439
58	ACTA1	HP:0009025	Increased connective tissue	HP:0040282	ORPHA:171430
58	ACTA1	HP:0009025	Increased connective tissue	1/1	OMIM:616852
58	ACTA1	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:171436
58	ACTA1	HP:0009027	Foot dorsiflexor weakness	-	OMIM:616852
58	ACTA1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:2020
58	ACTA1	HP:0000678	Dental crowding	HP:0040282	ORPHA:2020
58	ACTA1	HP:0009004	Hypoplasia of the musculature	HP:0040283	ORPHA:2020
58	ACTA1	HP:0001989	Fetal akinesia sequence	HP:0040283	ORPHA:171439
58	ACTA1	HP:0003089	Hamstring contractures	HP:0040282	ORPHA:97244
58	ACTA1	HP:0004396	Poor appetite	HP:0040282	ORPHA:2020
58	ACTA1	HP:0034198	Second trimester onset	1/1	OMIM:620278
58	ACTA1	HP:0004347	Weakness of muscles of respiration	HP:0040282	ORPHA:2020
58	ACTA1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:171436
58	ACTA1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:2020
58	ACTA1	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:171433
58	ACTA1	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:171430
58	ACTA1	HP:0011471	Gastrostomy tube feeding in infancy	1/3	OMIM:620278
58	ACTA1	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:2020
58	ACTA1	HP:0012785	Flexion contracture of finger	HP:0040283	ORPHA:2020
58	ACTA1	HP:0011462	Young adult onset	-	OMIM:616852
58	ACTA1	HP:0009130	Hand muscle atrophy	-	OMIM:616852
58	ACTA1	HP:0000774	Narrow chest	HP:0040283	ORPHA:171436
58	ACTA1	HP:0000774	Narrow chest	HP:0040283	ORPHA:171439
58	ACTA1	HP:0000775	Abnormality of the diaphragm	HP:0040283	ORPHA:171430
58	ACTA1	HP:0003198	Myopathy	HP:0040283	ORPHA:171436
58	ACTA1	HP:0003198	Myopathy	HP:0040281	ORPHA:171439
58	ACTA1	HP:0003198	Myopathy	HP:0040281	ORPHA:97244
58	ACTA1	HP:0100309	Subdural hemorrhage	1/1	OMIM:620278
58	ACTA1	HP:0000883	Thin ribs	HP:0040283	ORPHA:171430
58	ACTA1	HP:0012899	Handgrip myotonia	HP:0040281	ORPHA:97240
58	ACTA1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:97240
58	ACTA1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:171436
58	ACTA1	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:97244
58	ACTA1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:97244
58	ACTA1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:171433
58	ACTA1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:171430
58	ACTA1	HP:0003202	Skeletal muscle atrophy	3/3	OMIM:620278
58	ACTA1	HP:0003202	Skeletal muscle atrophy	-	OMIM:616852
58	ACTA1	HP:0005855	Multiple prenatal fractures	HP:0040282	ORPHA:171433
58	ACTA1	HP:0005855	Multiple prenatal fractures	HP:0040282	ORPHA:171430
58	ACTA1	HP:0034392	Joint contracture	1/1	OMIM:620278
58	ACTA1	HP:0003273	Hip contracture	HP:0040282	ORPHA:97244
58	ACTA1	HP:0003273	Hip contracture	HP:0040283	ORPHA:2020
58	ACTA1	HP:0010310	Chylothorax	1/1	OMIM:620278
58	ACTA1	HP:0100297	Increased endomysial connective tissue	1/1	OMIM:620265
58	ACTA1	HP:0100297	Increased endomysial connective tissue	1/1	OMIM:620278
58	ACTA1	HP:0000278	Retrognathia	-	OMIM:161800
58	ACTA1	HP:0000298	Mask-like facies	-	OMIM:161800
58	ACTA1	HP:0000298	Mask-like facies	1/1	OMIM:620278
58	ACTA1	HP:0000275	Narrow face	HP:0040283	ORPHA:171436
58	ACTA1	HP:0000275	Narrow face	1/3	OMIM:620278
58	ACTA1	HP:0000275	Narrow face	HP:0040283	ORPHA:171439
58	ACTA1	HP:0000276	Long face	1/3	OMIM:620278
58	ACTA1	HP:0000276	Long face	HP:0040283	ORPHA:2020
58	ACTA1	HP:0000276	Long face	HP:0040283	ORPHA:171439
58	ACTA1	HP:0006466	Ankle flexion contracture	HP:0040283	ORPHA:2020
58	ACTA1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:171436
58	ACTA1	HP:0002808	Kyphosis	HP:0040284	ORPHA:171436
58	ACTA1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:171436
58	ACTA1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	ORPHA:171433
58	ACTA1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:171430
58	ACTA1	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:161800
58	ACTA1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	ORPHA:171439
58	ACTA1	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:2020
58	ACTA1	HP:0000239	Large fontanelles	HP:0040283	ORPHA:171430
58	ACTA1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:171433
58	ACTA1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:171430
58	ACTA1	HP:0002878	Respiratory failure	1/1	OMIM:620278
58	ACTA1	HP:0002878	Respiratory failure	HP:0040283	ORPHA:2020
58	ACTA1	HP:0000218	High palate	-	OMIM:161800
58	ACTA1	HP:0000218	High palate	HP:0040282	ORPHA:171436
58	ACTA1	HP:0000218	High palate	2/3	OMIM:620278
58	ACTA1	HP:0000218	High palate	HP:0040282	ORPHA:2020
58	ACTA1	HP:0000218	High palate	HP:0040283	ORPHA:171439
58	ACTA1	HP:0002877	Nocturnal hypoventilation	HP:0040283	ORPHA:171436
58	ACTA1	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:171436
58	ACTA1	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:171433
58	ACTA1	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:171430
58	ACTA1	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:2020
58	ACTA1	HP:0001561	Polyhydramnios	-	OMIM:161800
58	ACTA1	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:171439
58	ACTA1	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:171433
58	ACTA1	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:171430
58	ACTA1	HP:0001558	Decreased fetal movement	5/7	OMIM:620278
58	ACTA1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:2020
58	ACTA1	HP:0001558	Decreased fetal movement	-	OMIM:161800
58	ACTA1	HP:0001558	Decreased fetal movement	HP:0040281	ORPHA:97240
58	ACTA1	HP:0002857	Genu valgum	HP:0040283	ORPHA:171436
58	ACTA1	HP:0001522	Death in infancy	4/7	OMIM:620265
58	ACTA1	HP:0001522	Death in infancy	3/4	OMIM:620278
58	ACTA1	HP:0001533	Slender build	HP:0040283	ORPHA:171439
58	ACTA1	HP:0001533	Slender build	-	OMIM:161800
58	ACTA1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2020
58	ACTA1	HP:0012378	Fatigue	HP:0040282	ORPHA:2020
58	ACTA1	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040283	ORPHA:171436
58	ACTA1	HP:0005216	Impaired mastication	HP:0040283	ORPHA:2020
58	ACTA1	HP:0001609	Hoarse voice	HP:0040283	ORPHA:2020
58	ACTA1	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040283	ORPHA:171436
58	ACTA1	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040283	ORPHA:171439
58	ACTA1	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:2020
58	ACTA1	HP:0002943	Thoracic scoliosis	1/3	OMIM:620278
58	ACTA1	HP:0030198	Fatigable weakness of distal limb muscles	HP:0040282	ORPHA:171436
58	ACTA1	HP:0000369	Low-set ears	HP:0040283	ORPHA:171433
58	ACTA1	HP:0000369	Low-set ears	HP:0040283	ORPHA:171430
58	ACTA1	HP:0000343	Long philtrum	HP:0040283	ORPHA:171433
58	ACTA1	HP:0000347	Micrognathia	HP:0040283	ORPHA:171436
58	ACTA1	HP:0000347	Micrognathia	HP:0040283	ORPHA:2020
58	ACTA1	HP:0000347	Micrognathia	HP:0040283	ORPHA:171439
58	ACTA1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:171433
58	ACTA1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:171439
58	ACTA1	HP:0001648	Cor pulmonale	HP:0040283	ORPHA:2020
58	ACTA1	HP:0001644	Dilated cardiomyopathy	HP:0040283	OMIM:161800
58	ACTA1	HP:0001662	Bradycardia	2/7	OMIM:620265
58	ACTA1	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:97244
58	ACTA1	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:2020
58	ACTA1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2020
58	ACTA1	HP:0001623	Breech presentation	HP:0040282	ORPHA:171430
58	ACTA1	HP:0001623	Breech presentation	1/1	OMIM:620278
58	ACTA1	HP:0001623	Breech presentation	HP:0040283	ORPHA:171439
58	ACTA1	HP:0001622	Premature birth	HP:0040283	ORPHA:171433
58	ACTA1	HP:0001622	Premature birth	HP:0040283	ORPHA:171430
58	ACTA1	HP:0002970	Genu varum	HP:0040283	ORPHA:171436
58	ACTA1	HP:0001638	Cardiomyopathy	-	ORPHA:171433
58	ACTA1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:171439
58	ACTA1	HP:0000303	Mandibular prognathia	1/3	OMIM:620278
58	ACTA1	HP:0030319	Weakness of facial musculature	14/14	OMIM:620265
58	ACTA1	HP:0030319	Weakness of facial musculature	6/6	OMIM:620278
58	ACTA1	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:2020
58	ACTA1	HP:0032989	Delayed ability to roll over	1/3	OMIM:620278
58	ACTA1	HP:0031546	Cardiac conduction abnormality	HP:0040282	ORPHA:97244
58	ACTA1	HP:0000473	Torticollis	HP:0040281	ORPHA:97240
58	ACTA1	HP:0000470	Short neck	HP:0040283	ORPHA:171436
58	ACTA1	HP:0000467	Neck muscle weakness	HP:0040281	ORPHA:97240
58	ACTA1	HP:0000467	Neck muscle weakness	HP:0040281	ORPHA:97244
58	ACTA1	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:171439
58	ACTA1	HP:0001771	Achilles tendon contracture	-	OMIM:616852
58	ACTA1	HP:0012416	Hypercapnia	HP:0040283	ORPHA:2020
58	ACTA1	HP:0012418	Hypoxemia	HP:0040283	ORPHA:2020
58	ACTA1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:2020
58	ACTA1	HP:0001761	Pes cavus	-	OMIM:161800
58	ACTA1	HP:0001761	Pes cavus	HP:0040283	ORPHA:2020
58	ACTA1	HP:0001761	Pes cavus	HP:0040283	ORPHA:171439
58	ACTA1	HP:0006785	Limb-girdle muscular dystrophy	HP:0040281	ORPHA:97240
58	ACTA1	HP:0001824	Weight loss	HP:0040282	ORPHA:2020
58	ACTA1	HP:0000508	Ptosis	HP:0040283	ORPHA:171436
58	ACTA1	HP:0000508	Ptosis	HP:0040284	ORPHA:171439
59	ACTA2	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
59	ACTA2	HP:0033505	Livedo reticularis	-	OMIM:611788
59	ACTA2	HP:0001297	Stroke	HP:0040283	ORPHA:91387
59	ACTA2	HP:0001250	Seizure	HP:0040282	ORPHA:2573
59	ACTA2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2573
59	ACTA2	HP:0002566	Intestinal malrotation	2/5	OMIM:613834
59	ACTA2	HP:0032398	Dysgyria	12/13	OMIM:613834
59	ACTA2	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
59	ACTA2	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
59	ACTA2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
59	ACTA2	HP:0000028	Cryptorchidism	1/2	OMIM:613834
59	ACTA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:611788
59	ACTA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613834
59	ACTA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614042
59	ACTA2	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
59	ACTA2	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
59	ACTA2	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
59	ACTA2	HP:0002617	Vascular dilatation	-	OMIM:613834
59	ACTA2	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
59	ACTA2	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
59	ACTA2	HP:0002789	Tachypnea	4/5	OMIM:613834
59	ACTA2	HP:0500007	Iris flocculi	-	OMIM:611788
59	ACTA2	HP:0031252	Dilated left subclavian artery	1/5	OMIM:613834
59	ACTA2	HP:0002092	Pulmonary arterial hypertension	-	OMIM:613834
59	ACTA2	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
59	ACTA2	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
59	ACTA2	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2573
59	ACTA2	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
59	ACTA2	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
59	ACTA2	HP:0011834	Moyamoya phenomenon	-	OMIM:611788
59	ACTA2	HP:0011834	Moyamoya phenomenon	-	OMIM:614042
59	ACTA2	HP:0003577	Congenital onset	5/5	OMIM:613834
59	ACTA2	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
59	ACTA2	HP:0100771	Hypoperistalsis	2/5	OMIM:613834
59	ACTA2	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
59	ACTA2	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
59	ACTA2	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
59	ACTA2	HP:0001009	Telangiectasia	HP:0040281	ORPHA:2573
59	ACTA2	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
59	ACTA2	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:2573
59	ACTA2	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
59	ACTA2	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:614042
59	ACTA2	HP:0004970	Ascending tubular aorta aneurysm	18/92	OMIM:611788
59	ACTA2	HP:0004933	Ascending aortic dissection	46/102	OMIM:611788
59	ACTA2	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
59	ACTA2	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
59	ACTA2	HP:0004944	Dilatation of the cerebral artery	-	OMIM:613834
59	ACTA2	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
59	ACTA2	HP:0004942	Aortic aneurysm	-	OMIM:611788
59	ACTA2	HP:0004927	Pulmonary artery dilatation	3/5	OMIM:613834
59	ACTA2	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
59	ACTA2	HP:0012727	Thoracic aortic aneurysm	5/5	OMIM:613834
59	ACTA2	HP:0012727	Thoracic aortic aneurysm	-	OMIM:611788
59	ACTA2	HP:0011499	Mydriasis	5/5	OMIM:613834
59	ACTA2	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
59	ACTA2	HP:0000822	Hypertension	-	OMIM:613834
59	ACTA2	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
59	ACTA2	HP:0030891	Periventricular white matter hyperintensities	-	OMIM:613834
59	ACTA2	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
59	ACTA2	HP:0034324	Brachiocephalic artery aneurysm	2/5	OMIM:613834
59	ACTA2	HP:0034325	Common carotid artery aneurysm	2/5	OMIM:613834
59	ACTA2	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
59	ACTA2	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
59	ACTA2	HP:0005113	Aortic arch aneurysm	2/5	OMIM:613834
59	ACTA2	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
59	ACTA2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
59	ACTA2	HP:0007866	Retinal infarction	-	OMIM:613834
59	ACTA2	HP:0005181	Premature coronary artery atherosclerosis	26/127	OMIM:611788
59	ACTA2	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
59	ACTA2	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
59	ACTA2	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
59	ACTA2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
59	ACTA2	HP:0001643	Patent ductus arteriosus	5/5	OMIM:613834
59	ACTA2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
59	ACTA2	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
59	ACTA2	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
59	ACTA2	HP:0001631	Atrial septal defect	1/5	OMIM:613834
59	ACTA2	HP:0012499	Descending aortic dissection	13/92	OMIM:611788
59	ACTA2	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
59	ACTA2	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
59	ACTA2	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
59	ACTA2	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
60	ACTB	HP:0007325	Generalized dystonia	HP:0040281	ORPHA:79107
60	ACTB	HP:0007325	Generalized dystonia	2/2	OMIM:607371
60	ACTB	HP:0010935	Abnormality of the upper urinary tract	HP:0040282	ORPHA:2995
60	ACTB	HP:0009942	Duplication of thumb phalanx	HP:0040283	ORPHA:2995
60	ACTB	HP:0008551	Microtia	1/6	OMIM:620475
60	ACTB	HP:0001100	Heterochromia iridis	HP:0040282	ORPHA:2995
60	ACTB	HP:0003764	Nevus	-	OMIM:604919
60	ACTB	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
60	ACTB	HP:0003724	Shoulder girdle muscle atrophy	HP:0040281	ORPHA:64755
60	ACTB	HP:0001293	Cranial nerve compression	-	OMIM:131300
60	ACTB	HP:0001290	Generalized hypotonia	-	OMIM:243310
60	ACTB	HP:0001274	Agenesis of corpus callosum	-	OMIM:243310
60	ACTB	HP:0001270	Motor delay	2/2	OMIM:607371
60	ACTB	HP:0001268	Mental deterioration	HP:0040281	ORPHA:79107
60	ACTB	HP:0001256	Intellectual disability, mild	2/2	OMIM:607371
60	ACTB	HP:0001250	Seizure	0/7	OMIM:620475
60	ACTB	HP:0001250	Seizure	-	OMIM:243310
60	ACTB	HP:0001250	Seizure	HP:0040281	ORPHA:2995
60	ACTB	HP:0001252	Hypotonia	-	OMIM:243310
60	ACTB	HP:0001252	Hypotonia	2/7	OMIM:615777
60	ACTB	HP:0001249	Intellectual disability	HP:0040281	ORPHA:79107
60	ACTB	HP:0001249	Intellectual disability	-	OMIM:243310
60	ACTB	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2995
60	ACTB	HP:0001249	Intellectual disability	5/7	OMIM:615777
60	ACTB	HP:0001260	Dysarthria	2/2	OMIM:607371
60	ACTB	HP:0001263	Global developmental delay	HP:0040281	ORPHA:79107
60	ACTB	HP:0001263	Global developmental delay	-	OMIM:243310
60	ACTB	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2995
60	ACTB	HP:0001263	Global developmental delay	-	OMIM:615777
60	ACTB	HP:0002558	Supernumerary nipple	HP:0040281	ORPHA:64755
60	ACTB	HP:0002571	Achalasia	HP:0040281	ORPHA:79107
60	ACTB	HP:0002571	Achalasia	2/2	OMIM:607371
60	ACTB	HP:0002553	Highly arched eyebrow	HP:0040283	OMIM:243310
60	ACTB	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:2995
60	ACTB	HP:0002515	Waddling gait	54/102	OMIM:131300
60	ACTB	HP:0002505	Loss of ambulation	2/2	OMIM:607371
60	ACTB	HP:0000064	Hypoplastic labia minora	HP:0040283	ORPHA:64755
60	ACTB	HP:0000072	Hydroureter	HP:0040282	ORPHA:2995
60	ACTB	HP:0000045	Abnormal scrotum morphology	HP:0040283	ORPHA:64755
60	ACTB	HP:0000054	Micropenis	-	OMIM:243310
60	ACTB	HP:0001387	Joint stiffness	HP:0040282	ORPHA:2995
60	ACTB	HP:0001382	Joint hypermobility	-	OMIM:615777
60	ACTB	HP:0002694	Sclerosis of skull base	-	OMIM:131300
60	ACTB	HP:0000028	Cryptorchidism	-	OMIM:243310
60	ACTB	HP:0008897	Postnatal growth retardation	-	OMIM:615777
60	ACTB	HP:0008897	Postnatal growth retardation	-	OMIM:243310
60	ACTB	HP:0008796	Femoral retroversion	HP:0040281	ORPHA:79107
60	ACTB	HP:0008796	Femoral retroversion	2/2	OMIM:607371
60	ACTB	HP:0001328	Specific learning disability	HP:0040281	ORPHA:2995
60	ACTB	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
60	ACTB	HP:0001324	Muscle weakness	40/96	OMIM:131300
60	ACTB	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
60	ACTB	HP:0001339	Lissencephaly	-	OMIM:243310
60	ACTB	HP:0001339	Lissencephaly	HP:0040281	ORPHA:2995
60	ACTB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
60	ACTB	HP:0000006	Autosomal dominant inheritance	-	OMIM:620475
60	ACTB	HP:0000006	Autosomal dominant inheritance	-	OMIM:243310
60	ACTB	HP:0000006	Autosomal dominant inheritance	-	OMIM:607371
60	ACTB	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
60	ACTB	HP:0001302	Pachygyria	-	OMIM:243310
60	ACTB	HP:0001302	Pachygyria	HP:0040281	ORPHA:2995
60	ACTB	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:2995
60	ACTB	HP:0002650	Scoliosis	-	OMIM:604919
60	ACTB	HP:0002650	Scoliosis	HP:0040283	ORPHA:64755
60	ACTB	HP:0002650	Scoliosis	HP:0040281	ORPHA:79107
60	ACTB	HP:0002650	Scoliosis	HP:0040283	ORPHA:2995
60	ACTB	HP:0002650	Scoliosis	12/14	OMIM:131300
60	ACTB	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
60	ACTB	HP:0032438	Platelet anisocytosis	4/4	OMIM:620475
60	ACTB	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
60	ACTB	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
60	ACTB	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
60	ACTB	HP:0012157	Subcortical cerebral atrophy	HP:0040282	ORPHA:2995
60	ACTB	HP:0000158	Macroglossia	HP:0040281	ORPHA:79107
60	ACTB	HP:0000175	Cleft palate	2/2	OMIM:607371
60	ACTB	HP:0000175	Cleft palate	2/7	OMIM:615777
60	ACTB	HP:0000154	Wide mouth	-	OMIM:243310
60	ACTB	HP:0000154	Wide mouth	1/6	OMIM:620475
60	ACTB	HP:0000154	Wide mouth	HP:0040281	ORPHA:2995
60	ACTB	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:2995
60	ACTB	HP:0001442	Typified by somatic mosaicism	1/1	OMIM:620470
60	ACTB	HP:0002751	Kyphoscoliosis	2/2	OMIM:607371
60	ACTB	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:79107
60	ACTB	HP:0002000	Short columella	HP:0040281	ORPHA:2995
60	ACTB	HP:0002015	Dysphagia	2/2	OMIM:607371
60	ACTB	HP:0002015	Dysphagia	HP:0040281	ORPHA:79107
60	ACTB	HP:0011800	Midface retrusion	1/8	OMIM:620475
60	ACTB	HP:0011800	Midface retrusion	-	OMIM:243310
60	ACTB	HP:0100540	Palpebral edema	HP:0040283	ORPHA:2995
60	ACTB	HP:0100560	Upper limb asymmetry	HP:0040283	ORPHA:64755
60	ACTB	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:64755
60	ACTB	HP:0002061	Lower limb spasticity	0/7	OMIM:620475
60	ACTB	HP:0003388	Easy fatigability	36/76	OMIM:131300
60	ACTB	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
60	ACTB	HP:0100578	Lipoatrophy	HP:0040281	ORPHA:64755
60	ACTB	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:2995
60	ACTB	HP:0002119	Ventriculomegaly	HP:0040283	OMIM:243310
60	ACTB	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:2995
60	ACTB	HP:0002162	Low posterior hairline	-	OMIM:243310
60	ACTB	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:2995
60	ACTB	HP:0010566	Hamartoma	HP:0040281	ORPHA:64755
60	ACTB	HP:0010566	Hamartoma	1/1	OMIM:620470
60	ACTB	HP:0010553	Oculogyric crisis	2/2	OMIM:607371
60	ACTB	HP:0011877	Increased mean platelet volume	5/5	OMIM:620475
60	ACTB	HP:0010529	Echolalia	HP:0040281	ORPHA:2995
60	ACTB	HP:0003593	Infantile onset	5/7	OMIM:620475
60	ACTB	HP:0003593	Infantile onset	1/1	OMIM:620470
60	ACTB	HP:0003577	Congenital onset	2/6	OMIM:620475
60	ACTB	HP:0003577	Congenital onset	2/2	OMIM:607371
60	ACTB	HP:0002282	Gray matter heterotopia	1/1	OMIM:620475
60	ACTB	HP:0007024	Pseudobulbar paralysis	2/2	OMIM:607371
60	ACTB	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:2995
60	ACTB	HP:0003510	Severe short stature	7/7	OMIM:615777
60	ACTB	HP:0002381	Aphasia	HP:0040281	ORPHA:2995
60	ACTB	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:64755
60	ACTB	HP:0002315	Headache	-	OMIM:131300
60	ACTB	HP:0004976	Knee dislocation	6/7	OMIM:615777
60	ACTB	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:2995
60	ACTB	HP:0100613	Death in early adulthood	HP:0040281	ORPHA:79107
60	ACTB	HP:0009803	Short phalanx of finger	-	OMIM:615777
60	ACTB	HP:0009763	Limb pain	63/92	OMIM:131300
60	ACTB	HP:0002300	Mutism	HP:0040281	ORPHA:2995
60	ACTB	HP:0003621	Juvenile onset	-	OMIM:131300
60	ACTB	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
60	ACTB	HP:0030502	Retinoschisis	HP:0040282	ORPHA:2995
60	ACTB	HP:0010066	Duplication of phalanx of hallux	HP:0040283	OMIM:243310
60	ACTB	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
60	ACTB	HP:0000637	Long palpebral fissure	-	OMIM:243310
60	ACTB	HP:0000637	Long palpebral fissure	HP:0040281	ORPHA:2995
60	ACTB	HP:6001056	Out-toeing	-	OMIM:131300
60	ACTB	HP:0000651	Diplopia	-	OMIM:131300
60	ACTB	HP:0000618	Blindness	HP:0040282	ORPHA:79107
60	ACTB	HP:0000612	Iris coloboma	-	OMIM:243310
60	ACTB	HP:0000612	Iris coloboma	HP:0040281	ORPHA:2995
60	ACTB	HP:0001956	Truncal obesity	2/7	OMIM:615777
60	ACTB	HP:0001903	Anemia	HP:0040283	OMIM:131300
60	ACTB	HP:0010049	Short metacarpal	-	OMIM:615777
60	ACTB	HP:0011342	Mild global developmental delay	6/7	OMIM:620475
60	ACTB	HP:0011342	Mild global developmental delay	2/2	OMIM:607371
60	ACTB	HP:0000678	Dental crowding	-	OMIM:615777
60	ACTB	HP:0000670	Carious teeth	-	OMIM:131300
60	ACTB	HP:0011304	Broad thumb	2/7	OMIM:615777
60	ACTB	HP:0000668	Hypodontia	-	OMIM:615777
60	ACTB	HP:0000664	Synophrys	-	OMIM:615777
60	ACTB	HP:0000664	Synophrys	3/6	OMIM:620475
60	ACTB	HP:0004322	Short stature	HP:0040281	ORPHA:79107
60	ACTB	HP:0004322	Short stature	-	OMIM:243310
60	ACTB	HP:0031959	Leg dystonia	2/2	OMIM:607371
60	ACTB	HP:0004308	Ventricular arrhythmia	1/1	OMIM:620475
60	ACTB	HP:0004396	Poor appetite	-	OMIM:131300
60	ACTB	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
60	ACTB	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
60	ACTB	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
60	ACTB	HP:0003026	Short long bone	7/7	OMIM:615777
60	ACTB	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
60	ACTB	HP:0000767	Pectus excavatum	-	OMIM:604919
60	ACTB	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:64755
60	ACTB	HP:0000767	Pectus excavatum	2/7	OMIM:615777
60	ACTB	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:64755
60	ACTB	HP:0000768	Pectus carinatum	1/7	OMIM:615777
60	ACTB	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
60	ACTB	HP:0000750	Delayed speech and language development	-	OMIM:615777
60	ACTB	HP:0011461	Fetal onset	7/7	OMIM:615777
60	ACTB	HP:0000774	Narrow chest	2/7	OMIM:615777
60	ACTB	HP:0012905	Euryblepharon	HP:0040281	ORPHA:2995
60	ACTB	HP:0003196	Short nose	-	OMIM:243310
60	ACTB	HP:0000926	Platyspondyly	1/7	OMIM:615777
60	ACTB	HP:0100308	Cerebral cortical hemiatrophy	HP:0040282	ORPHA:2995
60	ACTB	HP:0003189	Long nose	HP:0040282	ORPHA:2995
60	ACTB	HP:0003180	Flat acetabular roof	-	OMIM:615777
60	ACTB	HP:0000902	Rib fusion	HP:0040283	ORPHA:64755
60	ACTB	HP:0004482	Relative macrocephaly	-	OMIM:615777
60	ACTB	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
60	ACTB	HP:0000882	Hypoplastic scapulae	HP:0040281	ORPHA:79107
60	ACTB	HP:0000882	Hypoplastic scapulae	2/2	OMIM:607371
60	ACTB	HP:0000891	Cervical ribs	-	OMIM:604919
60	ACTB	HP:0012813	Unilateral breast hypoplasia	-	OMIM:604919
60	ACTB	HP:0000823	Delayed puberty	-	OMIM:131300
60	ACTB	HP:0000894	Short clavicles	-	OMIM:615777
60	ACTB	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
60	ACTB	HP:4000170	Anti-platelet antigen antibody positivity	0/2	OMIM:620475
60	ACTB	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:64755
60	ACTB	HP:0000998	Hypertrichosis	1/1	OMIM:620470
60	ACTB	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:64755
60	ACTB	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
60	ACTB	HP:0005815	Supernumerary ribs	HP:0040283	ORPHA:64755
60	ACTB	HP:0040188	Osteochondrosis	HP:0040281	ORPHA:2995
60	ACTB	HP:0000286	Epicanthus	4/6	OMIM:620475
60	ACTB	HP:0000286	Epicanthus	-	OMIM:243310
60	ACTB	HP:0000286	Epicanthus	HP:0040281	ORPHA:2995
60	ACTB	HP:0000286	Epicanthus	1/7	OMIM:615777
60	ACTB	HP:0000280	Coarse facial features	2/7	OMIM:615777
60	ACTB	HP:0000280	Coarse facial features	HP:0040281	ORPHA:2995
60	ACTB	HP:0000278	Retrognathia	HP:0040283	OMIM:243310
60	ACTB	HP:0000278	Retrognathia	HP:0040281	ORPHA:2995
60	ACTB	HP:0000293	Full cheeks	HP:0040281	ORPHA:2995
60	ACTB	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:2995
60	ACTB	HP:0002827	Hip dislocation	3/7	OMIM:615777
60	ACTB	HP:0002808	Kyphosis	HP:0040283	ORPHA:64755
60	ACTB	HP:0002808	Kyphosis	HP:0040281	ORPHA:79107
60	ACTB	HP:0000243	Trigonocephaly	-	OMIM:243310
60	ACTB	HP:0000243	Trigonocephaly	HP:0040282	ORPHA:2995
60	ACTB	HP:0000239	Large fontanelles	HP:0040282	ORPHA:2995
60	ACTB	HP:0000252	Microcephaly	-	OMIM:243310
60	ACTB	HP:0000252	Microcephaly	HP:0040282	ORPHA:2995
60	ACTB	HP:0000252	Microcephaly	-	OMIM:615777
60	ACTB	HP:0000219	Thin upper lip vermilion	4/6	OMIM:620475
60	ACTB	HP:0000219	Thin upper lip vermilion	20/20	OMIM:243310
60	ACTB	HP:0000218	High palate	1/6	OMIM:620475
60	ACTB	HP:0001561	Polyhydramnios	1/1	OMIM:620475
60	ACTB	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:2995
60	ACTB	HP:0001528	Hemihypertrophy	1/1	OMIM:620470
60	ACTB	HP:0002857	Genu valgum	-	OMIM:131300
60	ACTB	HP:0001537	Umbilical hernia	1/8	OMIM:620475
60	ACTB	HP:0000202	Orofacial cleft	HP:0040283	OMIM:243310
60	ACTB	HP:0000202	Orofacial cleft	HP:0040281	ORPHA:79107
60	ACTB	HP:0001533	Slender build	-	OMIM:131300
60	ACTB	HP:0000204	Cleft upper lip	2/2	OMIM:607371
60	ACTB	HP:0000204	Cleft upper lip	HP:0040283	OMIM:243310
60	ACTB	HP:0001508	Failure to thrive	-	OMIM:243310
60	ACTB	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2995
60	ACTB	HP:0001518	Small for gestational age	2/2	OMIM:607371
60	ACTB	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
60	ACTB	HP:0001510	Growth delay	HP:0040281	ORPHA:2995
60	ACTB	HP:0007807	Optic nerve compression	-	OMIM:131300
60	ACTB	HP:0012368	Flat face	7/7	OMIM:615777
60	ACTB	HP:0000396	Overfolded helix	-	OMIM:243310
60	ACTB	HP:0000396	Overfolded helix	1/6	OMIM:620475
60	ACTB	HP:0002937	Hemivertebrae	-	OMIM:604919
60	ACTB	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
60	ACTB	HP:0000365	Hearing impairment	1/7	OMIM:620475
60	ACTB	HP:0000365	Hearing impairment	10/67	OMIM:131300
60	ACTB	HP:0000358	Posteriorly rotated ears	1/8	OMIM:620475
60	ACTB	HP:0000369	Low-set ears	-	OMIM:243310
60	ACTB	HP:0000343	Long philtrum	1/7	OMIM:615777
60	ACTB	HP:0000343	Long philtrum	-	OMIM:243310
60	ACTB	HP:0000343	Long philtrum	HP:0040281	ORPHA:2995
60	ACTB	HP:0011001	Increased bone mineral density	-	OMIM:131300
60	ACTB	HP:0000348	High forehead	2/2	OMIM:607371
60	ACTB	HP:0000348	High forehead	HP:0040281	ORPHA:79107
60	ACTB	HP:0000347	Micrognathia	HP:0040281	ORPHA:2995
60	ACTB	HP:0001650	Aortic valve stenosis	-	OMIM:243310
60	ACTB	HP:0002983	Micromelia	HP:0040281	ORPHA:79107
60	ACTB	HP:0002983	Micromelia	HP:0040281	ORPHA:64755
60	ACTB	HP:0001647	Bicuspid aortic valve	-	OMIM:243310
60	ACTB	HP:0000316	Hypertelorism	HP:0040281	ORPHA:79107
60	ACTB	HP:0000316	Hypertelorism	-	OMIM:243310
60	ACTB	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2995
60	ACTB	HP:0001643	Patent ductus arteriosus	1/7	OMIM:620475
60	ACTB	HP:0001643	Patent ductus arteriosus	-	OMIM:243310
60	ACTB	HP:0000311	Round face	2/7	OMIM:615777
60	ACTB	HP:0002992	Abnormal tibia morphology	HP:0040283	ORPHA:64755
60	ACTB	HP:0002970	Genu varum	-	OMIM:615777
60	ACTB	HP:0000307	Pointed chin	-	OMIM:243310
60	ACTB	HP:0000307	Pointed chin	1/6	OMIM:620475
60	ACTB	HP:0000307	Pointed chin	HP:0040281	ORPHA:2995
60	ACTB	HP:0000303	Mandibular prognathia	-	OMIM:131300
60	ACTB	HP:0000303	Mandibular prognathia	1/6	OMIM:620475
60	ACTB	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:79107
60	ACTB	HP:0000407	Sensorineural hearing impairment	-	OMIM:243310
60	ACTB	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:607371
60	ACTB	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
60	ACTB	HP:0000482	Microcornea	HP:0040283	ORPHA:2995
60	ACTB	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:2995
60	ACTB	HP:0000490	Deeply set eye	3/7	OMIM:620475
60	ACTB	HP:0000463	Anteverted nares	-	OMIM:243310
60	ACTB	HP:0000455	Broad nasal tip	5/6	OMIM:620475
60	ACTB	HP:0000470	Short neck	1/7	OMIM:615777
60	ACTB	HP:0000470	Short neck	-	OMIM:243310
60	ACTB	HP:0000470	Short neck	HP:0040282	ORPHA:2995
60	ACTB	HP:0000465	Webbed neck	HP:0040283	ORPHA:2995
60	ACTB	HP:0000437	Depressed nasal tip	HP:0040281	ORPHA:2995
60	ACTB	HP:0001769	Broad foot	HP:0040283	OMIM:615777
60	ACTB	HP:0001763	Pes planus	1/7	OMIM:615777
60	ACTB	HP:0000448	Prominent nose	HP:0040282	ORPHA:2995
60	ACTB	HP:0000445	Wide nose	HP:0040281	ORPHA:2995
60	ACTB	HP:0000414	Bulbous nose	1/6	OMIM:620475
60	ACTB	HP:0000431	Wide nasal bridge	3/7	OMIM:620475
60	ACTB	HP:0000431	Wide nasal bridge	-	OMIM:243310
60	ACTB	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:2995
60	ACTB	HP:0005487	Prominent metopic ridge	1/1	OMIM:620475
60	ACTB	HP:0005487	Prominent metopic ridge	HP:0040281	ORPHA:2995
60	ACTB	HP:0000518	Cataract	1/2	OMIM:607371
60	ACTB	HP:0000518	Cataract	HP:0040282	ORPHA:79107
60	ACTB	HP:0001845	Overlapping toe	1/8	OMIM:620475
60	ACTB	HP:0001840	Metatarsus adductus	-	OMIM:615777
60	ACTB	HP:0000527	Long eyelashes	1/6	OMIM:620475
60	ACTB	HP:0000520	Proptosis	2/4	OMIM:131300
60	ACTB	HP:0000520	Proptosis	7/7	OMIM:615777
60	ACTB	HP:0000506	Telecanthus	4/7	OMIM:620475
60	ACTB	HP:0000506	Telecanthus	HP:0040281	ORPHA:2995
60	ACTB	HP:0000508	Ptosis	-	OMIM:243310
60	ACTB	HP:0000508	Ptosis	HP:0040281	ORPHA:2995
60	ACTB	HP:0000582	Upslanted palpebral fissure	2/6	OMIM:620475
60	ACTB	HP:0000592	Blue sclerae	2/7	OMIM:615777
60	ACTB	HP:0011229	Broad eyebrow	4/6	OMIM:620475
60	ACTB	HP:0011228	Horizontal eyebrow	5/6	OMIM:620475
60	ACTB	HP:0000588	Optic disc coloboma	HP:0040283	ORPHA:2995
60	ACTB	HP:0000568	Microphthalmia	HP:0040283	OMIM:243310
60	ACTB	HP:0000567	Chorioretinal coloboma	-	OMIM:243310
60	ACTB	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
60	ACTB	HP:0012514	Lower limb pain	4/4	OMIM:131300
60	ACTB	HP:0001873	Thrombocytopenia	7/7	OMIM:620475
70	ACTC1	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
70	ACTC1	HP:0001297	Stroke	HP:0040284	ORPHA:99103
70	ACTC1	HP:0001279	Syncope	2/9	OMIM:612098
70	ACTC1	HP:0001279	Syncope	HP:0040284	ORPHA:99103
70	ACTC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613424
70	ACTC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:612098
70	ACTC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:612794
70	ACTC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
70	ACTC1	HP:0033755	Increased left ventricular end-diastolic volume	6/8	OMIM:613424
70	ACTC1	HP:0002718	Recurrent bacterial infections	HP:0040284	ORPHA:99103
70	ACTC1	HP:0005957	Breathing dysregulation	HP:0040283	ORPHA:99103
70	ACTC1	HP:0002094	Dyspnea	6/23	OMIM:612098
70	ACTC1	HP:0002094	Dyspnea	HP:0040283	ORPHA:99103
70	ACTC1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:99103
70	ACTC1	HP:0002090	Pneumonia	HP:0040284	ORPHA:99103
70	ACTC1	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
70	ACTC1	HP:0011711	Left anterior fascicular block	1/9	OMIM:612098
70	ACTC1	HP:0011712	Complete right bundle branch block	2/9	OMIM:612098
70	ACTC1	HP:0011713	Left bundle branch block	2/14	OMIM:612098
70	ACTC1	HP:0011710	Bundle branch block	HP:0040283	ORPHA:99103
70	ACTC1	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:99103
70	ACTC1	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
70	ACTC1	HP:0004756	Ventricular tachycardia	1/9	OMIM:612098
70	ACTC1	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:99103
70	ACTC1	HP:0004749	Atrial flutter	HP:0040283	ORPHA:99103
70	ACTC1	HP:0004749	Atrial flutter	1/14	OMIM:612098
70	ACTC1	HP:0003596	Middle age onset	4/9	OMIM:612098
70	ACTC1	HP:0003596	Middle age onset	1/5	OMIM:613424
70	ACTC1	HP:0003584	Late onset	1/9	OMIM:612098
70	ACTC1	HP:0003581	Adult onset	3/3	OMIM:612098
70	ACTC1	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:99103
70	ACTC1	HP:0100749	Chest pain	2/9	OMIM:612098
70	ACTC1	HP:0002326	Transient ischemic attack	HP:0040284	ORPHA:99103
70	ACTC1	HP:0010741	Pedal edema	HP:0040283	ORPHA:99103
70	ACTC1	HP:0003621	Juvenile onset	2/5	OMIM:613424
70	ACTC1	HP:0003621	Juvenile onset	1/9	OMIM:612098
70	ACTC1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
70	ACTC1	HP:0001962	Palpitations	3/9	OMIM:612098
70	ACTC1	HP:0001962	Palpitations	HP:0040282	ORPHA:99103
70	ACTC1	HP:0031971	Subaortic ventricular septal bulge	5/14	OMIM:612098
70	ACTC1	HP:0004308	Ventricular arrhythmia	HP:0040283	OMIM:613424
70	ACTC1	HP:0030682	Left ventricular noncompaction	HP:0040283	OMIM:613424
70	ACTC1	HP:0011463	Childhood onset	1/5	OMIM:613424
70	ACTC1	HP:0011462	Young adult onset	3/9	OMIM:612098
70	ACTC1	HP:0011462	Young adult onset	1/5	OMIM:613424
70	ACTC1	HP:0012764	Orthopnea	HP:0040283	ORPHA:99103
70	ACTC1	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
70	ACTC1	HP:0003198	Myopathy	HP:0040283	ORPHA:154
70	ACTC1	HP:0004467	Preauricular pit	-	OMIM:187500
70	ACTC1	HP:0030718	Right atrial enlargement	HP:0040282	ORPHA:99103
70	ACTC1	HP:0000969	Edema	HP:0040282	ORPHA:154
70	ACTC1	HP:0000961	Cyanosis	HP:0040284	ORPHA:99103
70	ACTC1	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
70	ACTC1	HP:0011675	Arrhythmia	HP:0040283	ORPHA:99103
70	ACTC1	HP:0012250	ST segment depression	HP:0040283	ORPHA:99103
70	ACTC1	HP:0005133	Right ventricular dilatation	HP:0040283	ORPHA:99103
70	ACTC1	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:99103
70	ACTC1	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:99103
70	ACTC1	HP:0031318	Myofiber disarray	0/2	OMIM:613424
70	ACTC1	HP:0031319	Cardiomyocyte hypertrophy	2/2	OMIM:613424
70	ACTC1	HP:0031329	Interstitial cardiac fibrosis	2/2	OMIM:613424
70	ACTC1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:99103
70	ACTC1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
70	ACTC1	HP:0012378	Fatigue	HP:0040282	ORPHA:154
70	ACTC1	HP:0012378	Fatigue	HP:0040282	ORPHA:99103
70	ACTC1	HP:0012382	Left-to-right shunt	HP:0040281	ORPHA:99103
70	ACTC1	HP:0006536	Airway obstruction	HP:0040284	ORPHA:99103
70	ACTC1	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:99103
70	ACTC1	HP:0005162	Abnormal left ventricular function	HP:0040283	ORPHA:99103
70	ACTC1	HP:0001695	Cardiac arrest	2/9	OMIM:612098
70	ACTC1	HP:0000337	Broad forehead	-	OMIM:187500
70	ACTC1	HP:0001684	Secundum atrial septal defect	20/20	OMIM:612794
70	ACTC1	HP:0001681	Angina pectoris	2/14	OMIM:612098
70	ACTC1	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
70	ACTC1	HP:0001644	Dilated cardiomyopathy	5/8	OMIM:613424
70	ACTC1	HP:0001663	Ventricular fibrillation	2/9	OMIM:612098
70	ACTC1	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:99103
70	ACTC1	HP:0001639	Hypertrophic cardiomyopathy	11/23	OMIM:612098
70	ACTC1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
70	ACTC1	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
70	ACTC1	HP:0001635	Congestive heart failure	1/14	OMIM:612098
70	ACTC1	HP:0001635	Congestive heart failure	-	OMIM:613424
70	ACTC1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:99103
70	ACTC1	HP:0001631	Atrial septal defect	1/9	OMIM:612098
70	ACTC1	HP:0001633	Abnormal mitral valve morphology	HP:0040283	ORPHA:99103
70	ACTC1	HP:0005317	Increased pulmonary vascular resistance	HP:0040284	ORPHA:99103
70	ACTC1	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
70	ACTC1	HP:0001723	Restrictive cardiomyopathy	HP:0040283	OMIM:613424
70	ACTC1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
70	ACTC1	HP:0001708	Right ventricular failure	HP:0040284	ORPHA:99103
70	ACTC1	HP:0001712	Left ventricular hypertrophy	3/14	OMIM:612098
70	ACTC1	HP:0001712	Left ventricular hypertrophy	HP:0040283	OMIM:613424
70	ACTC1	HP:0000520	Proptosis	-	OMIM:187500
70	ACTC1	HP:0031664	Systolic heart murmur	HP:0040282	ORPHA:99103
71	ACTG1	HP:0010935	Abnormality of the upper urinary tract	HP:0040282	ORPHA:2995
71	ACTG1	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:604717
71	ACTG1	HP:0009942	Duplication of thumb phalanx	HP:0040283	ORPHA:2995
71	ACTG1	HP:0001100	Heterochromia iridis	HP:0040282	ORPHA:2995
71	ACTG1	HP:0001274	Agenesis of corpus callosum	HP:0040283	OMIM:614583
71	ACTG1	HP:0001250	Seizure	7/8	OMIM:614583
71	ACTG1	HP:0001250	Seizure	HP:0040281	ORPHA:2995
71	ACTG1	HP:0001249	Intellectual disability	5/5	OMIM:614583
71	ACTG1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2995
71	ACTG1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2995
71	ACTG1	HP:0002553	Highly arched eyebrow	7/7	OMIM:614583
71	ACTG1	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000072	Hydroureter	HP:0040282	ORPHA:2995
71	ACTG1	HP:0001387	Joint stiffness	HP:0040282	ORPHA:2995
71	ACTG1	HP:0001328	Specific learning disability	HP:0040281	ORPHA:2995
71	ACTG1	HP:0001339	Lissencephaly	7/7	OMIM:614583
71	ACTG1	HP:0001339	Lissencephaly	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000006	Autosomal dominant inheritance	5/7	OMIM:614583
71	ACTG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:604717
71	ACTG1	HP:0001302	Pachygyria	-	OMIM:614583
71	ACTG1	HP:0001302	Pachygyria	HP:0040281	ORPHA:2995
71	ACTG1	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:2995
71	ACTG1	HP:0002650	Scoliosis	HP:0040283	ORPHA:2995
71	ACTG1	HP:0012157	Subcortical cerebral atrophy	HP:0040282	ORPHA:2995
71	ACTG1	HP:0000154	Wide mouth	-	OMIM:614583
71	ACTG1	HP:0000154	Wide mouth	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:2995
71	ACTG1	HP:0002000	Short columella	HP:0040281	ORPHA:2995
71	ACTG1	HP:0100540	Palpebral edema	HP:0040283	ORPHA:2995
71	ACTG1	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:2995
71	ACTG1	HP:0002119	Ventriculomegaly	HP:0040283	OMIM:614583
71	ACTG1	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:2995
71	ACTG1	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:2995
71	ACTG1	HP:0010529	Echolalia	HP:0040281	ORPHA:2995
71	ACTG1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:2995
71	ACTG1	HP:0002381	Aphasia	HP:0040281	ORPHA:2995
71	ACTG1	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:2995
71	ACTG1	HP:0002300	Mutism	HP:0040281	ORPHA:2995
71	ACTG1	HP:0030502	Retinoschisis	HP:0040282	ORPHA:2995
71	ACTG1	HP:0000637	Long palpebral fissure	-	OMIM:614583
71	ACTG1	HP:0000637	Long palpebral fissure	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000612	Iris coloboma	HP:0040281	ORPHA:2995
71	ACTG1	HP:0004322	Short stature	3/7	OMIM:614583
71	ACTG1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040284	OMIM:614583
71	ACTG1	HP:0011462	Young adult onset	-	OMIM:604717
71	ACTG1	HP:0012905	Euryblepharon	HP:0040281	ORPHA:2995
71	ACTG1	HP:0100308	Cerebral cortical hemiatrophy	HP:0040282	ORPHA:2995
71	ACTG1	HP:0003189	Long nose	HP:0040282	ORPHA:2995
71	ACTG1	HP:0040188	Osteochondrosis	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000286	Epicanthus	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000280	Coarse facial features	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000278	Retrognathia	HP:0040283	OMIM:614583
71	ACTG1	HP:0000278	Retrognathia	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000293	Full cheeks	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:2995
71	ACTG1	HP:0000243	Trigonocephaly	7/7	OMIM:614583
71	ACTG1	HP:0000243	Trigonocephaly	HP:0040282	ORPHA:2995
71	ACTG1	HP:0000239	Large fontanelles	HP:0040282	ORPHA:2995
71	ACTG1	HP:0000252	Microcephaly	HP:0040282	ORPHA:2995
71	ACTG1	HP:0000219	Thin upper lip vermilion	-	OMIM:614583
71	ACTG1	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000202	Orofacial cleft	HP:0040283	OMIM:614583
71	ACTG1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2995
71	ACTG1	HP:0001510	Growth delay	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000377	Abnormal pinna morphology	-	OMIM:614583
71	ACTG1	HP:0000365	Hearing impairment	5/6	OMIM:614583
71	ACTG1	HP:0000343	Long philtrum	-	OMIM:614583
71	ACTG1	HP:0000343	Long philtrum	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000347	Micrognathia	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000316	Hypertelorism	7/8	OMIM:614583
71	ACTG1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000307	Pointed chin	-	OMIM:614583
71	ACTG1	HP:0000307	Pointed chin	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:604717
71	ACTG1	HP:0000482	Microcornea	HP:0040283	ORPHA:2995
71	ACTG1	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000470	Short neck	HP:0040283	OMIM:614583
71	ACTG1	HP:0000470	Short neck	HP:0040282	ORPHA:2995
71	ACTG1	HP:0000465	Webbed neck	HP:0040283	OMIM:614583
71	ACTG1	HP:0000465	Webbed neck	HP:0040283	ORPHA:2995
71	ACTG1	HP:0000437	Depressed nasal tip	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000448	Prominent nose	HP:0040282	ORPHA:2995
71	ACTG1	HP:0000445	Wide nose	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:2995
71	ACTG1	HP:0005487	Prominent metopic ridge	HP:0040281	ORPHA:2995
71	ACTG1	HP:0005484	Secondary microcephaly	4/7	OMIM:614583
71	ACTG1	HP:0000506	Telecanthus	-	OMIM:614583
71	ACTG1	HP:0000506	Telecanthus	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000508	Ptosis	8/8	OMIM:614583
71	ACTG1	HP:0000508	Ptosis	HP:0040281	ORPHA:2995
71	ACTG1	HP:0000589	Coloboma	5/7	OMIM:614583
71	ACTG1	HP:0000588	Optic disc coloboma	HP:0040283	ORPHA:2995
71	ACTG1	HP:0000568	Microphthalmia	HP:0040283	OMIM:614583
72	ACTG2	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:2604
72	ACTG2	HP:0100806	Sepsis	HP:0040283	ORPHA:2241
72	ACTG2	HP:0002578	Gastroparesis	1/6	OMIM:155310
72	ACTG2	HP:0002566	Intestinal malrotation	2/2	OMIM:619431
72	ACTG2	HP:0002566	Intestinal malrotation	HP:0040282	ORPHA:2241
72	ACTG2	HP:0001399	Hepatic failure	1/2	OMIM:619431
72	ACTG2	HP:0000076	Vesicoureteral reflux	HP:0040281	ORPHA:2604
72	ACTG2	HP:0000076	Vesicoureteral reflux	-	OMIM:155310
72	ACTG2	HP:0000072	Hydroureter	1/2	OMIM:619431
72	ACTG2	HP:0000072	Hydroureter	HP:0040281	ORPHA:2604
72	ACTG2	HP:0000072	Hydroureter	HP:0040282	ORPHA:2241
72	ACTG2	HP:0001387	Joint stiffness	HP:0040283	ORPHA:2604
72	ACTG2	HP:0000021	Megacystis	-	OMIM:155310
72	ACTG2	HP:0000021	Megacystis	2/2	OMIM:619431
72	ACTG2	HP:0000021	Megacystis	HP:0040281	ORPHA:2604
72	ACTG2	HP:0000021	Megacystis	HP:0040281	ORPHA:2241
72	ACTG2	HP:0000016	Urinary retention	1/6	OMIM:155310
72	ACTG2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2241
72	ACTG2	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:2241
72	ACTG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619431
72	ACTG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:155310
72	ACTG2	HP:0000175	Cleft palate	HP:0040283	ORPHA:2604
72	ACTG2	HP:0000126	Hydronephrosis	1/2	OMIM:619431
72	ACTG2	HP:0000126	Hydronephrosis	-	OMIM:155310
72	ACTG2	HP:0001409	Portal hypertension	1/2	OMIM:619431
72	ACTG2	HP:0002019	Constipation	-	OMIM:155310
72	ACTG2	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:2241
72	ACTG2	HP:0003363	Abdominal situs inversus	HP:0040283	ORPHA:2604
72	ACTG2	HP:0002027	Abdominal pain	-	OMIM:155310
72	ACTG2	HP:0030996	Megaduodenum	6/6	OMIM:155310
72	ACTG2	HP:0002014	Diarrhea	-	OMIM:155310
72	ACTG2	HP:0002015	Dysphagia	-	OMIM:155310
72	ACTG2	HP:0002013	Vomiting	-	OMIM:155310
72	ACTG2	HP:0100544	Neoplasm of the heart	HP:0040283	ORPHA:2241
72	ACTG2	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2604
72	ACTG2	HP:0003577	Congenital onset	1/2	OMIM:619431
72	ACTG2	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:2604
72	ACTG2	HP:0002251	Aganglionic megacolon	-	OMIM:155310
72	ACTG2	HP:0100771	Hypoperistalsis	HP:0040281	ORPHA:2241
72	ACTG2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2604
72	ACTG2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2241
72	ACTG2	HP:0004389	Intestinal pseudo-obstruction	-	OMIM:155310
72	ACTG2	HP:0004388	Microcolon	HP:0040281	ORPHA:2241
72	ACTG2	HP:0004388	Microcolon	-	OMIM:155310
72	ACTG2	HP:0004388	Microcolon	2/2	OMIM:619431
72	ACTG2	HP:0004395	Malnutrition	-	OMIM:155310
72	ACTG2	HP:0011461	Fetal onset	1/2	OMIM:619431
72	ACTG2	HP:0000774	Narrow chest	HP:0040283	ORPHA:2604
72	ACTG2	HP:0000843	Hyperparathyroidism	HP:0040283	ORPHA:2604
72	ACTG2	HP:0003270	Abdominal distention	HP:0040282	ORPHA:2604
72	ACTG2	HP:0003270	Abdominal distention	HP:0040281	ORPHA:2241
72	ACTG2	HP:0003270	Abdominal distention	1/6	OMIM:155310
72	ACTG2	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040282	ORPHA:2604
72	ACTG2	HP:6000072	Thinning of outer muscular layer of small bowel	-	OMIM:155310
72	ACTG2	HP:0000252	Microcephaly	HP:0040283	ORPHA:2604
72	ACTG2	HP:0001562	Oligohydramnios	1/2	OMIM:619431
72	ACTG2	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:2241
72	ACTG2	HP:0001561	Polyhydramnios	-	OMIM:155310
72	ACTG2	HP:0001522	Death in infancy	HP:0040283	ORPHA:2241
72	ACTG2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2604
72	ACTG2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2241
72	ACTG2	HP:0001539	Omphalocele	HP:0040283	ORPHA:2241
72	ACTG2	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040282	ORPHA:2241
72	ACTG2	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:2604
72	ACTG2	HP:0000337	Broad forehead	HP:0040283	ORPHA:2604
72	ACTG2	HP:0000347	Micrognathia	HP:0040283	ORPHA:2604
72	ACTG2	HP:0000311	Round face	HP:0040283	ORPHA:2604
72	ACTG2	HP:0001733	Pancreatitis	HP:0040283	OMIM:155310
72	ACTG2	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2604
72	ACTG2	HP:0001798	Anonychia	HP:0040283	ORPHA:2604
72	ACTG2	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:2604
81	ACTN4	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
81	ACTN4	HP:0003774	Stage 5 chronic kidney disease	1/1	OMIM:603278
81	ACTN4	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
81	ACTN4	HP:0003829	Typified by incomplete penetrance	-	OMIM:603278
81	ACTN4	HP:0000097	Focal segmental glomerulosclerosis	1/1	OMIM:603278
81	ACTN4	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
81	ACTN4	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
81	ACTN4	HP:0000093	Proteinuria	1/1	OMIM:603278
81	ACTN4	HP:0000006	Autosomal dominant inheritance	-	OMIM:603278
81	ACTN4	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
81	ACTN4	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
81	ACTN4	HP:0004719	Hyperechogenic kidneys	1/1	OMIM:603278
81	ACTN4	HP:0002202	Pleural effusion	1/1	OMIM:603278
81	ACTN4	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
81	ACTN4	HP:0003677	Slowly progressive	-	OMIM:603278
81	ACTN4	HP:0002315	Headache	HP:0040283	ORPHA:656
81	ACTN4	HP:0005565	Reduced renal corticomedullary differentiation	1/1	OMIM:603278
81	ACTN4	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
81	ACTN4	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
81	ACTN4	HP:0001945	Fever	HP:0040283	ORPHA:656
81	ACTN4	HP:0001903	Anemia	1/1	OMIM:603278
81	ACTN4	HP:0003077	Hyperlipidemia	-	OMIM:603278
81	ACTN4	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
81	ACTN4	HP:0003073	Hypoalbuminemia	-	OMIM:603278
81	ACTN4	HP:0000737	Irritability	HP:0040283	ORPHA:656
81	ACTN4	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
81	ACTN4	HP:0000822	Hypertension	1/1	OMIM:603278
81	ACTN4	HP:0000969	Edema	HP:0040281	ORPHA:656
81	ACTN4	HP:0000969	Edema	-	OMIM:603278
81	ACTN4	HP:0001541	Ascites	1/1	OMIM:603278
81	ACTN4	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
81	ACTN4	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
87	ACTN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615193
87	ACTN1	HP:0032438	Platelet anisocytosis	13/13	OMIM:615193
87	ACTN1	HP:0031126	Impaired clot retraction	0/1	OMIM:615193
87	ACTN1	HP:0011877	Increased mean platelet volume	13/13	OMIM:615193
87	ACTN1	HP:0004866	Impaired ADP-induced platelet aggregation	0/6	OMIM:615193
87	ACTN1	HP:0000421	Epistaxis	2/13	OMIM:615193
87	ACTN1	HP:0001873	Thrombocytopenia	13/13	OMIM:615193
88	ACTN2	HP:0002460	Distal muscle weakness	-	OMIM:618654
88	ACTN2	HP:0002460	Distal muscle weakness	-	OMIM:618655
88	ACTN2	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
88	ACTN2	HP:0020202	Abnormal Z disk morphology	-	OMIM:618654
88	ACTN2	HP:0020203	Z-band streaming	-	OMIM:618655
88	ACTN2	HP:0003736	Autophagic vacuoles	-	OMIM:618655
88	ACTN2	HP:0003701	Proximal muscle weakness	-	OMIM:618654
88	ACTN2	HP:0003701	Proximal muscle weakness	-	OMIM:618655
88	ACTN2	HP:0001290	Generalized hypotonia	-	OMIM:618654
88	ACTN2	HP:0001288	Gait disturbance	-	OMIM:618655
88	ACTN2	HP:0003805	Rimmed vacuoles	-	OMIM:618655
88	ACTN2	HP:0003803	Type 1 muscle fiber predominance	2/2	OMIM:618654
88	ACTN2	HP:0003803	Type 1 muscle fiber predominance	-	OMIM:618655
88	ACTN2	HP:0008872	Feeding difficulties in infancy	-	OMIM:618654
88	ACTN2	HP:0001324	Muscle weakness	-	OMIM:618654
88	ACTN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:612158
88	ACTN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618654
88	ACTN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618655
88	ACTN2	HP:0002650	Scoliosis	-	OMIM:618654
88	ACTN2	HP:0002792	Reduced vital capacity	-	OMIM:618654
88	ACTN2	HP:0031237	Internally nucleated skeletal muscle fibers	-	OMIM:618655
88	ACTN2	HP:0031237	Internally nucleated skeletal muscle fibers	2/2	OMIM:618654
88	ACTN2	HP:0002093	Respiratory insufficiency	-	OMIM:618654
88	ACTN2	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
88	ACTN2	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
88	ACTN2	HP:0004755	Supraventricular tachycardia	HP:0040283	OMIM:612158
88	ACTN2	HP:0003557	Increased variability in muscle fiber diameter	2/2	OMIM:618654
88	ACTN2	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:618655
88	ACTN2	HP:0003693	Distal amyotrophy	-	OMIM:618655
88	ACTN2	HP:0003621	Juvenile onset	1/1	OMIM:612158
88	ACTN2	HP:0009027	Foot dorsiflexor weakness	-	OMIM:618655
88	ACTN2	HP:0030682	Left ventricular noncompaction	HP:0040283	OMIM:612158
88	ACTN2	HP:0031936	Delayed ability to walk	-	OMIM:618654
88	ACTN2	HP:0011462	Young adult onset	3/3	OMIM:612158
88	ACTN2	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
88	ACTN2	HP:0011421	Death in adolescence	1/1	OMIM:612158
88	ACTN2	HP:0003198	Myopathy	HP:0040283	ORPHA:154
88	ACTN2	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:618655
88	ACTN2	HP:0000969	Edema	HP:0040282	ORPHA:154
88	ACTN2	HP:0100295	Muscle fiber atrophy	-	OMIM:618654
88	ACTN2	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
88	ACTN2	HP:0007715	Weak extraocular muscles	-	OMIM:618654
88	ACTN2	HP:0005110	Atrial fibrillation	HP:0040283	OMIM:612158
88	ACTN2	HP:0031318	Myofiber disarray	1/2	OMIM:612158
88	ACTN2	HP:0031319	Cardiomyocyte hypertrophy	2/2	OMIM:612158
88	ACTN2	HP:0000218	High palate	-	OMIM:618654
88	ACTN2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
88	ACTN2	HP:0012378	Fatigue	HP:0040282	ORPHA:154
88	ACTN2	HP:0001695	Cardiac arrest	HP:0040283	OMIM:612158
88	ACTN2	HP:0001678	Atrioventricular block	HP:0040283	OMIM:612158
88	ACTN2	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
88	ACTN2	HP:0001644	Dilated cardiomyopathy	1/1	OMIM:612158
88	ACTN2	HP:0001640	Cardiomegaly	1/2	OMIM:618654
88	ACTN2	HP:0001639	Hypertrophic cardiomyopathy	3/3	OMIM:612158
88	ACTN2	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
88	ACTN2	HP:0001635	Congestive heart failure	1/2	OMIM:618654
88	ACTN2	HP:0030319	Weakness of facial musculature	-	OMIM:618654
88	ACTN2	HP:0006685	Endocardial fibrosis	2/2	OMIM:612158
88	ACTN2	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
88	ACTN2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
88	ACTN2	HP:0001706	Endocardial fibroelastosis	1/1	OMIM:612158
88	ACTN2	HP:0001712	Left ventricular hypertrophy	HP:0040283	OMIM:612158
88	ACTN2	HP:0000597	Ophthalmoparesis	-	OMIM:618654
90	ACVR1	HP:0001172	Abnormal thumb morphology	HP:0040282	ORPHA:337
90	ACVR1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
90	ACVR1	HP:0001293	Cranial nerve compression	-	OMIM:131300
90	ACVR1	HP:0001256	Intellectual disability, mild	HP:0040284	OMIM:135100
90	ACVR1	HP:0001250	Seizure	HP:0040284	ORPHA:337
90	ACVR1	HP:0001252	Hypotonia	2/7	OMIM:615777
90	ACVR1	HP:0001249	Intellectual disability	HP:0040284	ORPHA:337
90	ACVR1	HP:0001249	Intellectual disability	5/7	OMIM:615777
90	ACVR1	HP:0001263	Global developmental delay	-	OMIM:615777
90	ACVR1	HP:0002515	Waddling gait	54/102	OMIM:131300
90	ACVR1	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:337
90	ACVR1	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:337
90	ACVR1	HP:0001382	Joint hypermobility	-	OMIM:615777
90	ACVR1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
90	ACVR1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
90	ACVR1	HP:0002659	Increased susceptibility to fractures	HP:0040282	ORPHA:337
90	ACVR1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
90	ACVR1	HP:0001324	Muscle weakness	40/96	OMIM:131300
90	ACVR1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
90	ACVR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
90	ACVR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
90	ACVR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:135100
90	ACVR1	HP:0002650	Scoliosis	-	OMIM:135100
90	ACVR1	HP:0002650	Scoliosis	HP:0040282	ORPHA:337
90	ACVR1	HP:0002650	Scoliosis	12/14	OMIM:131300
90	ACVR1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
90	ACVR1	HP:0002625	Deep venous thrombosis	HP:0040283	ORPHA:337
90	ACVR1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
90	ACVR1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
90	ACVR1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
90	ACVR1	HP:0000175	Cleft palate	2/7	OMIM:615777
90	ACVR1	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:337
90	ACVR1	HP:6000952	Delayed toe phalanx ossification	-	OMIM:135100
90	ACVR1	HP:0002750	Delayed skeletal maturation	HP:0040284	ORPHA:337
90	ACVR1	HP:0003367	Abnormal femoral neck morphology	HP:0040282	ORPHA:337
90	ACVR1	HP:0003306	Spinal rigidity	HP:0040281	ORPHA:337
90	ACVR1	HP:0005986	Limitation of neck motion	1/1	OMIM:135100
90	ACVR1	HP:0004629	Small cervical vertebral bodies	-	OMIM:135100
90	ACVR1	HP:0002093	Respiratory insufficiency	-	OMIM:135100
90	ACVR1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:337
90	ACVR1	HP:0003388	Easy fatigability	36/76	OMIM:131300
90	ACVR1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
90	ACVR1	HP:0003468	Abnormal vertebral morphology	HP:0040281	ORPHA:337
90	ACVR1	HP:0002135	Basal ganglia calcification	HP:0040284	OMIM:135100
90	ACVR1	HP:0010566	Hamartoma	-	OMIM:135100
90	ACVR1	HP:0003577	Congenital onset	1/1	OMIM:135100
90	ACVR1	HP:0011986	Ectopic ossification	HP:0040280	ORPHA:337
90	ACVR1	HP:0011987	Ectopic ossification in muscle tissue	1/1	OMIM:135100
90	ACVR1	HP:0011987	Ectopic ossification in muscle tissue	HP:0040281	ORPHA:337
90	ACVR1	HP:0011988	Ectopic ossification in tendon tissue	-	OMIM:135100
90	ACVR1	HP:0011989	Ectopic ossification in ligament tissue	-	OMIM:135100
90	ACVR1	HP:0011989	Ectopic ossification in ligament tissue	HP:0040281	ORPHA:337
90	ACVR1	HP:0003510	Severe short stature	7/7	OMIM:615777
90	ACVR1	HP:0001004	Lymphedema	HP:0040283	ORPHA:337
90	ACVR1	HP:0002315	Headache	-	OMIM:131300
90	ACVR1	HP:0004976	Knee dislocation	6/7	OMIM:615777
90	ACVR1	HP:0009803	Short phalanx of finger	-	OMIM:615777
90	ACVR1	HP:0008449	Progressive cervical vertebral spine fusion	-	OMIM:135100
90	ACVR1	HP:0009763	Limb pain	63/92	OMIM:131300
90	ACVR1	HP:0003621	Juvenile onset	-	OMIM:131300
90	ACVR1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
90	ACVR1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:135100
90	ACVR1	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	HP:0040282	ORPHA:337
90	ACVR1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
90	ACVR1	HP:6001056	Out-toeing	-	OMIM:131300
90	ACVR1	HP:0000651	Diplopia	-	OMIM:131300
90	ACVR1	HP:0001956	Truncal obesity	2/7	OMIM:615777
90	ACVR1	HP:0001903	Anemia	HP:0040284	ORPHA:337
90	ACVR1	HP:0001903	Anemia	HP:0040283	OMIM:131300
90	ACVR1	HP:0010049	Short metacarpal	-	OMIM:615777
90	ACVR1	HP:0010054	Abnormality of the first metatarsal bone	-	OMIM:135100
90	ACVR1	HP:0010054	Abnormality of the first metatarsal bone	HP:0040281	ORPHA:337
90	ACVR1	HP:0010034	Short 1st metacarpal	-	OMIM:135100
90	ACVR1	HP:0000678	Dental crowding	-	OMIM:615777
90	ACVR1	HP:0000687	Widely spaced teeth	-	OMIM:135100
90	ACVR1	HP:0000670	Carious teeth	-	OMIM:131300
90	ACVR1	HP:0011304	Broad thumb	2/7	OMIM:615777
90	ACVR1	HP:0000668	Hypodontia	-	OMIM:615777
90	ACVR1	HP:0000664	Synophrys	-	OMIM:615777
90	ACVR1	HP:0004396	Poor appetite	-	OMIM:131300
90	ACVR1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
90	ACVR1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
90	ACVR1	HP:0003016	Metaphyseal widening	-	OMIM:135100
90	ACVR1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
90	ACVR1	HP:0003026	Short long bone	7/7	OMIM:615777
90	ACVR1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
90	ACVR1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
90	ACVR1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
90	ACVR1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
90	ACVR1	HP:0000750	Delayed speech and language development	-	OMIM:615777
90	ACVR1	HP:0011461	Fetal onset	7/7	OMIM:615777
90	ACVR1	HP:0010109	Short hallux	-	OMIM:135100
90	ACVR1	HP:0010109	Short hallux	HP:0040281	ORPHA:337
90	ACVR1	HP:0000774	Narrow chest	2/7	OMIM:615777
90	ACVR1	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:337
90	ACVR1	HP:0000926	Platyspondyly	1/7	OMIM:615777
90	ACVR1	HP:0003180	Flat acetabular roof	-	OMIM:615777
90	ACVR1	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:135100
90	ACVR1	HP:0004482	Relative macrocephaly	-	OMIM:615777
90	ACVR1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
90	ACVR1	HP:0000823	Delayed puberty	-	OMIM:131300
90	ACVR1	HP:0000894	Short clavicles	-	OMIM:615777
90	ACVR1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
90	ACVR1	HP:0030838	Hip pain	HP:0040282	ORPHA:337
90	ACVR1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
90	ACVR1	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:337
90	ACVR1	HP:0000286	Epicanthus	1/7	OMIM:615777
90	ACVR1	HP:0000280	Coarse facial features	2/7	OMIM:615777
90	ACVR1	HP:0001596	Alopecia	-	OMIM:135100
90	ACVR1	HP:0001596	Alopecia	HP:0040282	ORPHA:337
90	ACVR1	HP:0006429	Broad femoral neck	-	OMIM:135100
90	ACVR1	HP:0002827	Hip dislocation	3/7	OMIM:615777
90	ACVR1	HP:0030084	Clinodactyly	HP:0040282	ORPHA:337
90	ACVR1	HP:0000252	Microcephaly	-	OMIM:615777
90	ACVR1	HP:0002878	Respiratory failure	-	OMIM:135100
90	ACVR1	HP:0002857	Genu valgum	-	OMIM:131300
90	ACVR1	HP:0001533	Slender build	-	OMIM:131300
90	ACVR1	HP:0030038	Enchondroma	HP:0040283	ORPHA:337
90	ACVR1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:337
90	ACVR1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
90	ACVR1	HP:0007807	Optic nerve compression	-	OMIM:131300
90	ACVR1	HP:0012368	Flat face	7/7	OMIM:615777
90	ACVR1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
90	ACVR1	HP:0002949	Fused cervical vertebrae	HP:0040281	ORPHA:337
90	ACVR1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:337
90	ACVR1	HP:0000365	Hearing impairment	10/67	OMIM:131300
90	ACVR1	HP:0000343	Long philtrum	1/7	OMIM:615777
90	ACVR1	HP:0011001	Increased bone mineral density	-	OMIM:131300
90	ACVR1	HP:0000311	Round face	2/7	OMIM:615777
90	ACVR1	HP:0002970	Genu varum	-	OMIM:615777
90	ACVR1	HP:0000303	Mandibular prognathia	-	OMIM:131300
90	ACVR1	HP:0000407	Sensorineural hearing impairment	-	OMIM:135100
90	ACVR1	HP:0000405	Conductive hearing impairment	-	OMIM:135100
90	ACVR1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
90	ACVR1	HP:0000470	Short neck	1/7	OMIM:615777
90	ACVR1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
90	ACVR1	HP:0001763	Pes planus	1/7	OMIM:615777
90	ACVR1	HP:0030431	Osteochondroma	HP:0040281	ORPHA:337
90	ACVR1	HP:0001844	Abnormal hallux morphology	HP:0040281	ORPHA:337
90	ACVR1	HP:0001840	Metatarsus adductus	-	OMIM:615777
90	ACVR1	HP:0000520	Proptosis	2/4	OMIM:131300
90	ACVR1	HP:0000520	Proptosis	7/7	OMIM:615777
90	ACVR1	HP:0001822	Hallux valgus	HP:0040283	ORPHA:337
90	ACVR1	HP:0001822	Hallux valgus	1/1	OMIM:135100
90	ACVR1	HP:0000501	Glaucoma	HP:0040284	ORPHA:337
90	ACVR1	HP:0000592	Blue sclerae	2/7	OMIM:615777
90	ACVR1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
90	ACVR1	HP:0012514	Lower limb pain	4/4	OMIM:131300
91	ACVR1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:260350
91	ACVR1B	HP:0410067	Increased level of L-fucose in urine	-	OMIM:260350
91	ACVR1B	HP:0001442	Typified by somatic mosaicism	-	OMIM:260350
91	ACVR1B	HP:0003581	Adult onset	-	OMIM:260350
91	ACVR1B	HP:0002894	Neoplasm of the pancreas	-	OMIM:260350
93	ACVR2B	HP:0012020	Right aortic arch	1/3	OMIM:613751
93	ACVR2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
93	ACVR2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:613751
93	ACVR2B	HP:0010452	Ectopia of the spleen	1/3	OMIM:613751
93	ACVR2B	HP:0003577	Congenital onset	5/5	OMIM:613751
93	ACVR2B	HP:0033379	Bilateral superior vena cava	1/2	OMIM:613751
93	ACVR2B	HP:0004935	Pulmonary artery atresia	1/2	OMIM:613751
93	ACVR2B	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
93	ACVR2B	HP:0034188	Midline liver	2/3	OMIM:613751
93	ACVR2B	HP:0004467	Preauricular pit	-	OMIM:187500
93	ACVR2B	HP:0011565	Common atrium	1/2	OMIM:613751
93	ACVR2B	HP:0011671	Interrupted inferior vena cava with azygous continuation	3/5	OMIM:613751
93	ACVR2B	HP:0031348	Dextrotransposition of the great arteries	1/3	OMIM:613751
93	ACVR2B	HP:0005160	Total anomalous pulmonary venous return	1/3	OMIM:613751
93	ACVR2B	HP:0001674	Complete atrioventricular canal defect	1/3	OMIM:613751
93	ACVR2B	HP:0001669	Transposition of the great arteries	1/2	OMIM:613751
93	ACVR2B	HP:0000337	Broad forehead	-	OMIM:187500
93	ACVR2B	HP:0001651	Dextrocardia	1/3	OMIM:613751
93	ACVR2B	HP:0001629	Ventricular septal defect	1/3	OMIM:613751
93	ACVR2B	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
93	ACVR2B	HP:0006695	Atrioventricular canal defect	2/2	OMIM:613751
93	ACVR2B	HP:0001748	Polysplenia	1/3	OMIM:613751
93	ACVR2B	HP:0000520	Proptosis	-	OMIM:187500
94	ACVRL1	HP:0002408	Cerebral arteriovenous malformation	-	OMIM:600376
94	ACVRL1	HP:0002408	Cerebral arteriovenous malformation	HP:0040283	ORPHA:774
94	ACVRL1	HP:0001250	Seizure	HP:0040283	ORPHA:774
94	ACVRL1	HP:0001250	Seizure	-	OMIM:600376
94	ACVRL1	HP:0001232	Nail bed telangiectasia	-	OMIM:600376
94	ACVRL1	HP:0002573	Hematochezia	-	OMIM:600376
94	ACVRL1	HP:0006107	Fingerpad telangiectases	-	OMIM:600376
94	ACVRL1	HP:0100869	Palmar telangiectasia	8/10	OMIM:600376
94	ACVRL1	HP:0007380	Facial telangiectasia	8/10	OMIM:600376
94	ACVRL1	HP:0001217	Clubbing	-	OMIM:600376
94	ACVRL1	HP:0001399	Hepatic failure	HP:0040283	ORPHA:774
94	ACVRL1	HP:0001394	Cirrhosis	-	OMIM:600376
94	ACVRL1	HP:0001394	Cirrhosis	HP:0040283	ORPHA:774
94	ACVRL1	HP:0001342	Cerebral hemorrhage	-	OMIM:600376
94	ACVRL1	HP:0001342	Cerebral hemorrhage	HP:0040283	ORPHA:774
94	ACVRL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:600376
94	ACVRL1	HP:0002629	Gastrointestinal arteriovenous malformation	-	OMIM:600376
94	ACVRL1	HP:0002629	Gastrointestinal arteriovenous malformation	HP:0040283	ORPHA:774
94	ACVRL1	HP:0002604	Gastrointestinal telangiectasia	12/20	OMIM:600376
94	ACVRL1	HP:0002707	Palate telangiectasia	-	OMIM:600376
94	ACVRL1	HP:0001409	Portal hypertension	HP:0040282	ORPHA:774
94	ACVRL1	HP:0002094	Dyspnea	-	OMIM:600376
94	ACVRL1	HP:0002092	Pulmonary arterial hypertension	-	OMIM:600376
94	ACVRL1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:774
94	ACVRL1	HP:0002076	Migraine	-	OMIM:600376
94	ACVRL1	HP:0002076	Migraine	HP:0040282	ORPHA:774
94	ACVRL1	HP:0002040	Esophageal varix	HP:0040283	ORPHA:774
94	ACVRL1	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:774
94	ACVRL1	HP:0100579	Mucosal telangiectasiae	HP:0040281	ORPHA:774
94	ACVRL1	HP:0002140	Ischemic stroke	-	OMIM:600376
94	ACVRL1	HP:0002138	Subarachnoid hemorrhage	-	OMIM:600376
94	ACVRL1	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:774
94	ACVRL1	HP:0002105	Hemoptysis	HP:0040283	ORPHA:774
94	ACVRL1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:774
94	ACVRL1	HP:0002249	Melena	3/10	OMIM:600376
94	ACVRL1	HP:0002248	Hematemesis	-	OMIM:600376
94	ACVRL1	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:774
94	ACVRL1	HP:0100784	Peripheral arteriovenous fistula	HP:0040283	ORPHA:774
94	ACVRL1	HP:0100761	Visceral angiomatosis	HP:0040282	ORPHA:774
94	ACVRL1	HP:0002390	Spinal arteriovenous malformation	-	OMIM:600376
94	ACVRL1	HP:0001009	Telangiectasia	HP:0040281	ORPHA:774
94	ACVRL1	HP:0002326	Transient ischemic attack	-	OMIM:600376
94	ACVRL1	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:774
94	ACVRL1	HP:0100659	Abnormal cerebral vascular morphology	HP:0040283	ORPHA:774
94	ACVRL1	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:774
94	ACVRL1	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:774
94	ACVRL1	HP:0001903	Anemia	-	OMIM:600376
94	ACVRL1	HP:0001903	Anemia	HP:0040282	ORPHA:774
94	ACVRL1	HP:0001901	Polycythemia	-	OMIM:600376
94	ACVRL1	HP:0030491	Choriocapillaris atrophy	-	OMIM:600376
94	ACVRL1	HP:0100026	Arteriovenous malformation	HP:0040282	ORPHA:774
94	ACVRL1	HP:0004406	Spontaneous, recurrent epistaxis	10/10	OMIM:600376
94	ACVRL1	HP:0004406	Spontaneous, recurrent epistaxis	HP:0040281	ORPHA:774
94	ACVRL1	HP:0000822	Hypertension	-	OMIM:600376
94	ACVRL1	HP:0000961	Cyanosis	-	OMIM:600376
94	ACVRL1	HP:0007763	Retinal telangiectasia	HP:0040283	ORPHA:774
94	ACVRL1	HP:0000214	Lip telangiectasia	-	OMIM:600376
94	ACVRL1	HP:0000214	Lip telangiectasia	HP:0040281	ORPHA:774
94	ACVRL1	HP:0000228	Oral cavity telangiectasia	6/10	OMIM:600376
94	ACVRL1	HP:0000227	Tongue telangiectasia	-	OMIM:600376
94	ACVRL1	HP:0000227	Tongue telangiectasia	HP:0040281	ORPHA:774
94	ACVRL1	HP:0030049	Brain abscess	-	OMIM:600376
94	ACVRL1	HP:0011025	Abnormal cardiovascular system physiology	HP:0040282	ORPHA:774
94	ACVRL1	HP:0006574	Hepatic arteriovenous malformation	-	OMIM:600376
94	ACVRL1	HP:0006574	Hepatic arteriovenous malformation	HP:0040282	ORPHA:774
94	ACVRL1	HP:0006548	Pulmonary arteriovenous malformation	-	OMIM:600376
94	ACVRL1	HP:0006548	Pulmonary arteriovenous malformation	HP:0040282	ORPHA:774
94	ACVRL1	HP:0001694	Right-to-left shunt	-	OMIM:600376
94	ACVRL1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:774
94	ACVRL1	HP:0000471	Gastrointestinal angiodysplasia	-	OMIM:600376
94	ACVRL1	HP:0000434	Nasal mucosa telangiectasia	-	OMIM:600376
94	ACVRL1	HP:0000434	Nasal mucosa telangiectasia	HP:0040281	ORPHA:774
94	ACVRL1	HP:0000421	Epistaxis	HP:0040281	ORPHA:774
94	ACVRL1	HP:0000524	Conjunctival telangiectasia	-	OMIM:600376
94	ACVRL1	HP:0000524	Conjunctival telangiectasia	HP:0040283	ORPHA:774
95	ACY1	HP:0001298	Encephalopathy	HP:0040282	ORPHA:137754
95	ACY1	HP:0001290	Generalized hypotonia	1/1	OMIM:609924
95	ACY1	HP:0001272	Cerebellar atrophy	-	OMIM:609924
95	ACY1	HP:0001250	Seizure	HP:0040283	ORPHA:137754
95	ACY1	HP:0001250	Seizure	-	OMIM:609924
95	ACY1	HP:0001252	Hypotonia	HP:0040282	ORPHA:137754
95	ACY1	HP:0001252	Hypotonia	-	OMIM:609924
95	ACY1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:137754
95	ACY1	HP:0001263	Global developmental delay	-	OMIM:609924
95	ACY1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:137754
95	ACY1	HP:0001324	Muscle weakness	-	OMIM:609924
95	ACY1	HP:0000007	Autosomal recessive inheritance	-	OMIM:609924
95	ACY1	HP:0002013	Vomiting	HP:0040283	ORPHA:137754
95	ACY1	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:137754
95	ACY1	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:609924
95	ACY1	HP:0003396	Syringomyelia	HP:0040283	ORPHA:137754
95	ACY1	HP:0002059	Cerebral atrophy	-	OMIM:609924
95	ACY1	HP:0002120	Cerebral cortical atrophy	1/1	OMIM:609924
95	ACY1	HP:0002104	Apnea	HP:0040283	ORPHA:137754
95	ACY1	HP:0002188	Delayed CNS myelination	-	OMIM:609924
95	ACY1	HP:0011968	Feeding difficulties	1/1	OMIM:609924
95	ACY1	HP:0003623	Neonatal onset	1/1	OMIM:609924
95	ACY1	HP:0006846	Acute encephalopathy	1/1	OMIM:609924
95	ACY1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040283	ORPHA:137754
95	ACY1	HP:0000752	Hyperactivity	-	OMIM:609924
95	ACY1	HP:0000316	Hypertelorism	HP:0040284	ORPHA:137754
95	ACY1	HP:0000316	Hypertelorism	-	OMIM:609924
95	ACY1	HP:0001662	Bradycardia	1/1	OMIM:609924
95	ACY1	HP:0001623	Breech presentation	1/1	OMIM:609924
95	ACY1	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:137754
95	ACY1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:609924
95	ACY1	HP:0000445	Wide nose	HP:0040284	ORPHA:137754
95	ACY1	HP:0000431	Wide nasal bridge	-	OMIM:609924
100	ADA	HP:0034829	Adrenal cortical sclerosis	6/8	OMIM:102700
100	ADA	HP:0100806	Sepsis	HP:0040283	ORPHA:39041
100	ADA	HP:0001270	Motor delay	1/1	OMIM:102700
100	ADA	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:39041
100	ADA	HP:0010976	Decreased total B cell count	HP:0040282	ORPHA:277
100	ADA	HP:0010976	Decreased total B cell count	-	OMIM:102700
100	ADA	HP:0025379	Anti-thyroid peroxidase antibody positivity	HP:0040282	ORPHA:277
100	ADA	HP:0007549	Desquamation of skin soon after birth	HP:0040282	ORPHA:39041
100	ADA	HP:0031164	Growth arrest lines	-	OMIM:102700
100	ADA	HP:0000007	Autosomal recessive inheritance	-	OMIM:102700
100	ADA	HP:0002665	Lymphoma	HP:0040283	ORPHA:39041
100	ADA	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:102700
100	ADA	HP:0012191	B-cell lymphoma	-	OMIM:102700
100	ADA	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:277
100	ADA	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:39041
100	ADA	HP:0001442	Typified by somatic mosaicism	-	OMIM:102700
100	ADA	HP:0031233	Horizontal inferior border of scapula	1/1	OMIM:102700
100	ADA	HP:0002718	Recurrent bacterial infections	-	OMIM:102700
100	ADA	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:39041
100	ADA	HP:0002728	Chronic mucocutaneous candidiasis	1/1	OMIM:102700
100	ADA	HP:0002720	Decreased circulating IgA concentration	-	OMIM:102700
100	ADA	HP:0002028	Chronic diarrhea	HP:0040281	ORPHA:39041
100	ADA	HP:0002028	Chronic diarrhea	2/2	OMIM:102700
100	ADA	HP:0002014	Diarrhea	HP:0040282	ORPHA:277
100	ADA	HP:0002014	Diarrhea	1/1	OMIM:102700
100	ADA	HP:0002099	Asthma	-	OMIM:102700
100	ADA	HP:0002090	Pneumonia	HP:0040282	ORPHA:39041
100	ADA	HP:0002090	Pneumonia	-	OMIM:102700
100	ADA	HP:0010444	Pulmonic regurgitation	HP:0040282	ORPHA:277
100	ADA	HP:0003593	Infantile onset	1/1	OMIM:102700
100	ADA	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:39041
100	ADA	HP:0002240	Hepatomegaly	-	OMIM:102700
100	ADA	HP:0008348	Decreased circulating IgG2 concentration	-	OMIM:102700
100	ADA	HP:0001019	Erythroderma	HP:0040281	ORPHA:39041
100	ADA	HP:0100646	Thyroiditis	HP:0040283	ORPHA:39041
100	ADA	HP:0001072	Thickened skin	HP:0040282	ORPHA:39041
100	ADA	HP:0003623	Neonatal onset	1/1	OMIM:102700
100	ADA	HP:0001967	Diffuse mesangial sclerosis	-	OMIM:102700
100	ADA	HP:0001973	Autoimmune thrombocytopenia	-	OMIM:102700
100	ADA	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:39041
100	ADA	HP:0001945	Fever	HP:0040282	ORPHA:39041
100	ADA	HP:0001954	Recurrent fever	1/1	OMIM:102700
100	ADA	HP:0001903	Anemia	HP:0040283	ORPHA:39041
100	ADA	HP:0004332	Abnormal lymphocyte morphology	HP:0040281	ORPHA:39041
100	ADA	HP:0004430	Severe combined immunodeficiency	2/2	OMIM:102700
100	ADA	HP:0004430	Severe combined immunodeficiency	HP:0040281	ORPHA:39041
100	ADA	HP:0004429	Recurrent viral infections	-	OMIM:102700
100	ADA	HP:0000926	Platyspondyly	-	OMIM:102700
100	ADA	HP:0000907	Anterior rib cupping	-	OMIM:102700
100	ADA	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:39041
100	ADA	HP:0003212	Increased circulating IgE concentration	HP:0040282	ORPHA:277
100	ADA	HP:0003212	Increased circulating IgE concentration	-	OMIM:102700
100	ADA	HP:0030813	Absent tonsils	HP:0040282	ORPHA:277
100	ADA	HP:0000989	Pruritus	HP:0040282	ORPHA:39041
100	ADA	HP:0000988	Skin rash	1/1	OMIM:102700
100	ADA	HP:0000958	Dry skin	HP:0040282	ORPHA:39041
100	ADA	HP:0000969	Edema	HP:0040282	ORPHA:39041
100	ADA	HP:0000944	Abnormal metaphysis morphology	HP:0040283	ORPHA:39041
100	ADA	HP:0001596	Alopecia	HP:0040281	ORPHA:39041
100	ADA	HP:0000246	Sinusitis	HP:0040282	ORPHA:277
100	ADA	HP:0000246	Sinusitis	-	OMIM:102700
100	ADA	HP:0001508	Failure to thrive	HP:0040282	ORPHA:277
100	ADA	HP:0001508	Failure to thrive	HP:0040281	ORPHA:39041
100	ADA	HP:0001508	Failure to thrive	2/2	OMIM:102700
100	ADA	HP:0002850	Decreased circulating total IgM	-	OMIM:102700
100	ADA	HP:0002849	Absence of lymph node germinal center	HP:0040282	ORPHA:277
100	ADA	HP:0002841	Recurrent fungal infections	-	OMIM:102700
100	ADA	HP:0012393	Allergy	HP:0040282	ORPHA:277
100	ADA	HP:0006532	Recurrent pneumonia	HP:0040282	ORPHA:277
100	ADA	HP:0006532	Recurrent pneumonia	2/2	OMIM:102700
100	ADA	HP:0002960	Autoimmunity	HP:0040282	ORPHA:277
100	ADA	HP:0002960	Autoimmunity	HP:0040283	ORPHA:39041
100	ADA	HP:0005359	Aplasia of the thymus	1/1	OMIM:102700
100	ADA	HP:0005354	Absent cellular immunity	HP:0040282	ORPHA:277
100	ADA	HP:0005368	Abnormality of humoral immunity	HP:0040282	ORPHA:277
100	ADA	HP:0005365	Severe B lymphocytopenia	-	OMIM:102700
100	ADA	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:277
100	ADA	HP:0011123	Inflammatory abnormality of the skin	HP:0040282	ORPHA:277
100	ADA	HP:0011123	Inflammatory abnormality of the skin	1/1	OMIM:102700
100	ADA	HP:0030273	Reduced red cell adenosine deaminase level	1/1	OMIM:102700
100	ADA	HP:0001744	Splenomegaly	HP:0040282	ORPHA:39041
100	ADA	HP:0001744	Splenomegaly	-	OMIM:102700
100	ADA	HP:0005424	Absent specific antibody response	-	OMIM:102700
100	ADA	HP:0005403	Decreased total T cell count	HP:0040282	ORPHA:277
100	ADA	HP:0001831	Short toe	HP:0040283	ORPHA:39041
100	ADA	HP:0005390	Recurrent opportunistic infections	HP:0040282	ORPHA:277
100	ADA	HP:0001890	Autoimmune hemolytic anemia	-	OMIM:102700
100	ADA	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:277
100	ADA	HP:0001888	Decreased total lymphocyte count	2/2	OMIM:102700
100	ADA	HP:0001880	Increased total eosinophil count	HP:0040282	ORPHA:39041
100	ADA	HP:0001880	Increased total eosinophil count	1/1	OMIM:102700
102	ADAM10	HP:0000006	Autosomal dominant inheritance	-	OMIM:615537
102	ADAM10	HP:0003621	Juvenile onset	7/9	OMIM:615537
102	ADAM10	HP:0012733	Macule	9/9	OMIM:615537
102	ADAM10	HP:0011463	Childhood onset	2/9	OMIM:615537
102	ADAM10	HP:0000962	Hyperkeratosis	1/1	OMIM:615537
103	ADAR	HP:0002446	Astrocytosis	HP:0040283	ORPHA:225154
103	ADAR	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:51
103	ADAR	HP:0002415	Leukodystrophy	11/14	OMIM:615010
103	ADAR	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:51
103	ADAR	HP:0001276	Hypertonia	HP:0040281	ORPHA:51
103	ADAR	HP:0001276	Hypertonia	HP:0040283	ORPHA:225154
103	ADAR	HP:0001288	Gait disturbance	HP:0040282	ORPHA:225154
103	ADAR	HP:0001288	Gait disturbance	HP:0040282	ORPHA:51
103	ADAR	HP:0001285	Spastic tetraparesis	HP:0040282	ORPHA:225154
103	ADAR	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:225154
103	ADAR	HP:0001250	Seizure	HP:0040282	ORPHA:51
103	ADAR	HP:0001251	Ataxia	HP:0040282	ORPHA:225154
103	ADAR	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:225154
103	ADAR	HP:0001260	Dysarthria	HP:0040282	ORPHA:225154
103	ADAR	HP:0001263	Global developmental delay	HP:0040281	ORPHA:51
103	ADAR	HP:0001257	Spasticity	HP:0040282	ORPHA:225154
103	ADAR	HP:0001257	Spasticity	HP:0040281	ORPHA:51
103	ADAR	HP:0007441	Hyperpigmented/hypopigmented macules	-	OMIM:127400
103	ADAR	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	HP:0040282	ORPHA:225154
103	ADAR	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:225154
103	ADAR	HP:0002514	Cerebral calcification	14/14	OMIM:615010
103	ADAR	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:51
103	ADAR	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:51
103	ADAR	HP:0002505	Loss of ambulation	-	OMIM:615010
103	ADAR	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:225154
103	ADAR	HP:0001369	Arthritis	HP:0040283	ORPHA:51
103	ADAR	HP:0000054	Micropenis	HP:0040283	ORPHA:51
103	ADAR	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:225154
103	ADAR	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:51
103	ADAR	HP:0001332	Dystonia	2/14	OMIM:615010
103	ADAR	HP:0001332	Dystonia	HP:0040282	ORPHA:225154
103	ADAR	HP:0001332	Dystonia	HP:0040282	ORPHA:51
103	ADAR	HP:0000007	Autosomal recessive inheritance	-	OMIM:615010
103	ADAR	HP:0001337	Tremor	-	OMIM:615010
103	ADAR	HP:0001337	Tremor	HP:0040283	ORPHA:51
103	ADAR	HP:0000006	Autosomal dominant inheritance	-	OMIM:127400
103	ADAR	HP:0001336	Myoclonus	HP:0040283	ORPHA:225154
103	ADAR	HP:0001304	Torsion dystonia	HP:0040282	ORPHA:41
103	ADAR	HP:0002650	Scoliosis	HP:0040283	ORPHA:51
103	ADAR	HP:0007688	Undetectable light- and dark-adapted electroretinogram	HP:0040283	ORPHA:225154
103	ADAR	HP:0008947	Floppy infant	HP:0040282	ORPHA:225154
103	ADAR	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:51
103	ADAR	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:51
103	ADAR	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:225154
103	ADAR	HP:0002015	Dysphagia	HP:0040282	ORPHA:225154
103	ADAR	HP:0002066	Gait ataxia	HP:0040282	ORPHA:225154
103	ADAR	HP:0002063	Rigidity	-	OMIM:615010
103	ADAR	HP:0002063	Rigidity	HP:0040283	ORPHA:225154
103	ADAR	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:51
103	ADAR	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:51
103	ADAR	HP:0100578	Lipoatrophy	HP:0040284	ORPHA:51
103	ADAR	HP:0002139	Arrhinencephaly	HP:0040281	ORPHA:51
103	ADAR	HP:0003487	Babinski sign	HP:0040282	ORPHA:225154
103	ADAR	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:225154
103	ADAR	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:51
103	ADAR	HP:0002132	Porencephalic cyst	HP:0040281	ORPHA:51
103	ADAR	HP:0002187	Intellectual disability, profound	HP:0040281	ORPHA:51
103	ADAR	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:225154
103	ADAR	HP:0011834	Moyamoya phenomenon	HP:0040284	ORPHA:51
103	ADAR	HP:0034513	Increased circulating Interferon-alpha concentration	6/7	OMIM:615010
103	ADAR	HP:0003593	Infantile onset	11/14	OMIM:615010
103	ADAR	HP:0003593	Infantile onset	-	OMIM:127400
103	ADAR	HP:0002273	Tetraparesis	HP:0040282	ORPHA:225154
103	ADAR	HP:0002240	Hepatomegaly	1/14	OMIM:615010
103	ADAR	HP:0003552	Muscle stiffness	HP:0040283	ORPHA:51
103	ADAR	HP:0009709	Increased CSF interferon alpha	HP:0040282	ORPHA:51
103	ADAR	HP:0009709	Increased CSF interferon alpha	10/10	OMIM:615010
103	ADAR	HP:0009710	Chilblains	HP:0040282	ORPHA:51
103	ADAR	HP:0009710	Chilblains	1/14	OMIM:615010
103	ADAR	HP:0009704	Chronic CSF lymphocytosis	HP:0040282	ORPHA:51
103	ADAR	HP:0011968	Feeding difficulties	6/14	OMIM:615010
103	ADAR	HP:0004809	Neonatal alloimmune thrombocytopenia	HP:0040283	ORPHA:51
103	ADAR	HP:0007076	Extrapyramidal muscular rigidity	HP:0040282	ORPHA:51
103	ADAR	HP:0007052	Multifocal cerebral white matter abnormalities	HP:0040281	ORPHA:51
103	ADAR	HP:0001063	Acrocyanosis	HP:0040283	ORPHA:51
103	ADAR	HP:0002396	Cogwheel rigidity	HP:0040283	ORPHA:225154
103	ADAR	HP:0002359	Frequent falls	HP:0040283	ORPHA:225154
103	ADAR	HP:0002376	Developmental regression	3/14	OMIM:615010
103	ADAR	HP:0002376	Developmental regression	HP:0040282	ORPHA:51
103	ADAR	HP:0002376	Developmental regression	HP:0040282	ORPHA:225154
103	ADAR	HP:0002371	Loss of speech	-	OMIM:615010
103	ADAR	HP:0002371	Loss of speech	HP:0040282	ORPHA:51
103	ADAR	HP:0002315	Headache	HP:0040283	ORPHA:51
103	ADAR	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:51
103	ADAR	HP:0100614	Myositis	HP:0040284	ORPHA:51
103	ADAR	HP:0001087	Developmental glaucoma	HP:0040283	ORPHA:51
103	ADAR	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:51
103	ADAR	HP:0004963	Calcification of the aorta	HP:0040284	ORPHA:51
103	ADAR	HP:0003623	Neonatal onset	2/14	OMIM:615010
103	ADAR	HP:0004942	Aortic aneurysm	HP:0040284	ORPHA:51
103	ADAR	HP:0005550	Chronic lymphatic leukemia	HP:0040284	ORPHA:51
103	ADAR	HP:0000639	Nystagmus	1/14	OMIM:615010
103	ADAR	HP:0000639	Nystagmus	HP:0040283	ORPHA:51
103	ADAR	HP:0000648	Optic atrophy	HP:0040282	ORPHA:225154
103	ADAR	HP:0001955	Unexplained fevers	HP:0040282	ORPHA:51
103	ADAR	HP:0000625	Eyelid coloboma	HP:0040282	ORPHA:51
103	ADAR	HP:0012697	Small basal ganglia	HP:0040283	ORPHA:225154
103	ADAR	HP:0011344	Severe global developmental delay	14/14	OMIM:615010
103	ADAR	HP:0004322	Short stature	HP:0040282	ORPHA:51
103	ADAR	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:51
103	ADAR	HP:0006999	Basal ganglia gliosis	HP:0040282	ORPHA:225154
103	ADAR	HP:0012733	Macule	HP:0040281	ORPHA:41
103	ADAR	HP:0000737	Irritability	7/14	OMIM:615010
103	ADAR	HP:0000737	Irritability	HP:0040282	ORPHA:51
103	ADAR	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:225154
103	ADAR	HP:0011463	Childhood onset	1/14	OMIM:615010
103	ADAR	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:225154
103	ADAR	HP:0011509	Macular hyperpigmentation	HP:0040281	ORPHA:41
103	ADAR	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:51
103	ADAR	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:51
103	ADAR	HP:0030880	Raynaud phenomenon	HP:0040283	ORPHA:51
103	ADAR	HP:0000958	Dry skin	HP:0040282	ORPHA:51
103	ADAR	HP:0000965	Cutis marmorata	HP:0040283	ORPHA:51
103	ADAR	HP:0040140	Degeneration of the striatum	HP:0040284	ORPHA:51
103	ADAR	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:51
103	ADAR	HP:0012229	CSF pleocytosis	1/11	OMIM:615010
103	ADAR	HP:0000252	Microcephaly	HP:0040282	ORPHA:51
103	ADAR	HP:0000252	Microcephaly	5/14	OMIM:615010
103	ADAR	HP:0030038	Enchondroma	HP:0040284	ORPHA:51
103	ADAR	HP:0001508	Failure to thrive	HP:0040282	ORPHA:225154
103	ADAR	HP:0001511	Intrauterine growth retardation	1/14	OMIM:615010
103	ADAR	HP:0007811	Horizontal pendular nystagmus	HP:0040282	ORPHA:225154
103	ADAR	HP:0006579	Prolonged neonatal jaundice	HP:0040283	ORPHA:51
103	ADAR	HP:0001609	Hoarse voice	HP:0040283	ORPHA:51
103	ADAR	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:51
103	ADAR	HP:0000369	Low-set ears	HP:0040283	ORPHA:51
103	ADAR	HP:0002960	Autoimmunity	HP:0040282	ORPHA:51
103	ADAR	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:51
103	ADAR	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:51
103	ADAR	HP:0012490	Panniculitis	HP:0040283	ORPHA:51
103	ADAR	HP:0007988	Macular hypopigmentation	HP:0040281	ORPHA:41
103	ADAR	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:51
103	ADAR	HP:0012444	Brain atrophy	HP:0040282	ORPHA:51
103	ADAR	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:51
103	ADAR	HP:0001744	Splenomegaly	1/14	OMIM:615010
103	ADAR	HP:0006799	Basal ganglia cysts	HP:0040283	ORPHA:225154
103	ADAR	HP:0000508	Ptosis	HP:0040283	ORPHA:51
103	ADAR	HP:0000501	Glaucoma	HP:0040283	ORPHA:51
103	ADAR	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040282	ORPHA:51
103	ADAR	HP:0001878	Hemolytic anemia	3/14	OMIM:615010
103	ADAR	HP:0001873	Thrombocytopenia	2/14	OMIM:615010
104	ADARB1	HP:0009890	High anterior hairline	1/4	OMIM:618862
104	ADARB1	HP:0010880	Increased nuchal translucency	1/4	OMIM:618862
104	ADARB1	HP:0001290	Generalized hypotonia	1/4	OMIM:618862
104	ADARB1	HP:0001270	Motor delay	4/4	OMIM:618862
104	ADARB1	HP:0001250	Seizure	4/4	OMIM:618862
104	ADARB1	HP:0001249	Intellectual disability	4/4	OMIM:618862
104	ADARB1	HP:0001263	Global developmental delay	4/4	OMIM:618862
104	ADARB1	HP:0001257	Spasticity	1/4	OMIM:618862
104	ADARB1	HP:0001357	Plagiocephaly	2/4	OMIM:618862
104	ADARB1	HP:0001344	Absent speech	3/4	OMIM:618862
104	ADARB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618862
104	ADARB1	HP:0008936	Axial hypotonia	1/4	OMIM:618862
104	ADARB1	HP:0002079	Hypoplasia of the corpus callosum	2/4	OMIM:618862
104	ADARB1	HP:0002188	Delayed CNS myelination	2/4	OMIM:618862
104	ADARB1	HP:0100704	Cerebral visual impairment	3/4	OMIM:618862
104	ADARB1	HP:0011968	Feeding difficulties	4/4	OMIM:618862
104	ADARB1	HP:0007112	Temporal cortical atrophy	1/4	OMIM:618862
104	ADARB1	HP:0004322	Short stature	2/4	OMIM:618862
104	ADARB1	HP:0031936	Delayed ability to walk	2/2	OMIM:618862
104	ADARB1	HP:0012741	Unilateral cryptorchidism	1/4	OMIM:618862
104	ADARB1	HP:0003202	Skeletal muscle atrophy	1/4	OMIM:618862
104	ADARB1	HP:0000252	Microcephaly	4/4	OMIM:618862
104	ADARB1	HP:0000248	Brachycephaly	1/4	OMIM:618862
104	ADARB1	HP:0000219	Thin upper lip vermilion	1/4	OMIM:618862
104	ADARB1	HP:0000218	High palate	1/4	OMIM:618862
104	ADARB1	HP:0001561	Polyhydramnios	1/4	OMIM:618862
104	ADARB1	HP:0001601	Laryngomalacia	1/4	OMIM:618862
104	ADARB1	HP:0000311	Round face	1/4	OMIM:618862
104	ADARB1	HP:0000300	Oval face	1/4	OMIM:618862
104	ADARB1	HP:0011182	Interictal epileptiform activity	3/4	OMIM:618862
104	ADARB1	HP:0005487	Prominent metopic ridge	1/4	OMIM:618862
104	ADARB1	HP:0000582	Upslanted palpebral fissure	1/4	OMIM:618862
104	ADARB1	HP:0000577	Exotropia	1/4	OMIM:618862
107	ADCY1	HP:0000007	Autosomal recessive inheritance	-	OMIM:610154
107	ADCY1	HP:0000399	Prelingual sensorineural hearing impairment	-	OMIM:610154
109	ADCY3	HP:0001249	Intellectual disability	2/4	OMIM:617885
109	ADCY3	HP:0002591	Polyphagia	4/4	OMIM:617885
109	ADCY3	HP:0000007	Autosomal recessive inheritance	-	OMIM:617885
109	ADCY3	HP:0002155	Hypertriglyceridemia	1/3	OMIM:617885
109	ADCY3	HP:0003593	Infantile onset	-	OMIM:617885
109	ADCY3	HP:0031793	Increased serum leptin	3/3	OMIM:617885
109	ADCY3	HP:0003077	Hyperlipidemia	-	OMIM:617885
109	ADCY3	HP:0011463	Childhood onset	-	OMIM:617885
109	ADCY3	HP:0004409	Hyposmia	2/4	OMIM:617885
109	ADCY3	HP:0000855	Insulin resistance	1/4	OMIM:617885
109	ADCY3	HP:0000842	Hyperinsulinemia	1/3	OMIM:617885
109	ADCY3	HP:0001513	Obesity	4/4	OMIM:617885
109	ADCY3	HP:0000458	Anosmia	3/4	OMIM:617885
111	ADCY5	HP:0010864	Intellectual disability, severe	4/5	OMIM:619651
111	ADCY5	HP:0002421	Poor head control	2/2	OMIM:619651
111	ADCY5	HP:0001270	Motor delay	1/2	OMIM:606703
111	ADCY5	HP:0001270	Motor delay	4/6	OMIM:619647
111	ADCY5	HP:0001288	Gait disturbance	HP:0040282	ORPHA:324588
111	ADCY5	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1429
111	ADCY5	HP:0001252	Hypotonia	1/2	OMIM:606703
111	ADCY5	HP:0001249	Intellectual disability	-	ORPHA:324588
111	ADCY5	HP:0001266	Choreoathetosis	1/2	OMIM:606703
111	ADCY5	HP:0001260	Dysarthria	2/2	OMIM:606703
111	ADCY5	HP:0001260	Dysarthria	6/6	OMIM:619647
111	ADCY5	HP:0001260	Dysarthria	HP:0040282	ORPHA:324588
111	ADCY5	HP:0001263	Global developmental delay	5/5	OMIM:619651
111	ADCY5	HP:0002509	Limb hypertonia	2/2	OMIM:606703
111	ADCY5	HP:0002509	Limb hypertonia	HP:0040282	ORPHA:324588
111	ADCY5	HP:0003819	Death in childhood	1/3	OMIM:619651
111	ADCY5	HP:0025336	Delayed ability to sit	1/2	OMIM:606703
111	ADCY5	HP:0025336	Delayed ability to sit	3/3	OMIM:619651
111	ADCY5	HP:0001347	Hyperreflexia	1/2	OMIM:606703
111	ADCY5	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:324588
111	ADCY5	HP:0001332	Dystonia	2/2	OMIM:606703
111	ADCY5	HP:0001332	Dystonia	8/8	OMIM:619647
111	ADCY5	HP:0001332	Dystonia	HP:0040282	ORPHA:324588
111	ADCY5	HP:0001332	Dystonia	5/5	OMIM:619651
111	ADCY5	HP:0033725	Thin corpus callosum	3/3	OMIM:619651
111	ADCY5	HP:0000007	Autosomal recessive inheritance	-	OMIM:619647
111	ADCY5	HP:0000007	Autosomal recessive inheritance	-	OMIM:619651
111	ADCY5	HP:0001337	Tremor	2/6	OMIM:619647
111	ADCY5	HP:0001337	Tremor	3/3	OMIM:619651
111	ADCY5	HP:0000006	Autosomal dominant inheritance	-	OMIM:606703
111	ADCY5	HP:0001336	Myoclonus	1/2	OMIM:606703
111	ADCY5	HP:0001336	Myoclonus	5/8	OMIM:619647
111	ADCY5	HP:0001336	Myoclonus	HP:0040282	ORPHA:324588
111	ADCY5	HP:0001336	Myoclonus	3/3	OMIM:619651
111	ADCY5	HP:0008936	Axial hypotonia	1/2	OMIM:606703
111	ADCY5	HP:0008936	Axial hypotonia	6/6	OMIM:619647
111	ADCY5	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:324588
111	ADCY5	HP:0008936	Axial hypotonia	5/5	OMIM:619651
111	ADCY5	HP:0003324	Generalized muscle weakness	1/2	OMIM:606703
111	ADCY5	HP:0002072	Chorea	2/2	OMIM:606703
111	ADCY5	HP:0002072	Chorea	HP:0040282	ORPHA:324588
111	ADCY5	HP:0100595	Camptocormia	1/2	OMIM:606703
111	ADCY5	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:324588
111	ADCY5	HP:0003593	Infantile onset	1/2	OMIM:606703
111	ADCY5	HP:0003593	Infantile onset	5/5	OMIM:619651
111	ADCY5	HP:0002365	Hypoplasia of the brainstem	1/2	OMIM:619651
111	ADCY5	HP:0002359	Frequent falls	1/2	OMIM:619647
111	ADCY5	HP:0002342	Intellectual disability, moderate	1/3	OMIM:619651
111	ADCY5	HP:0002322	Resting tremor	1/2	OMIM:606703
111	ADCY5	HP:0002322	Resting tremor	HP:0040282	ORPHA:324588
111	ADCY5	HP:0100660	Dyskinesia	1/2	OMIM:606703
111	ADCY5	HP:0007166	Paroxysmal dyskinesia	1/2	OMIM:606703
111	ADCY5	HP:0002310	Orofacial dyskinesia	HP:0040281	ORPHA:324588
111	ADCY5	HP:0003621	Juvenile onset	1/2	OMIM:606703
111	ADCY5	HP:0004305	Involuntary movements	1/2	OMIM:606703
111	ADCY5	HP:0031936	Delayed ability to walk	1/2	OMIM:606703
111	ADCY5	HP:0031936	Delayed ability to walk	3/3	OMIM:619651
111	ADCY5	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:1429
111	ADCY5	HP:0000739	Anxiety	-	OMIM:606703
111	ADCY5	HP:0000739	Anxiety	3/3	OMIM:619651
111	ADCY5	HP:0000750	Delayed speech and language development	5/8	OMIM:619647
111	ADCY5	HP:0000750	Delayed speech and language development	5/5	OMIM:619651
111	ADCY5	HP:0000713	Agitation	1/2	OMIM:619651
111	ADCY5	HP:0000722	Compulsive behaviors	3/3	OMIM:619651
111	ADCY5	HP:0000817	Reduced eye contact	1/2	OMIM:619651
111	ADCY5	HP:0000821	Hypothyroidism	2/6	OMIM:619647
111	ADCY5	HP:0001508	Failure to thrive	1/2	OMIM:619651
111	ADCY5	HP:0000317	Facial myokymia	1/2	OMIM:606703
111	ADCY5	HP:0000317	Facial myokymia	HP:0040281	ORPHA:324588
111	ADCY5	HP:0001644	Dilated cardiomyopathy	HP:0040283	OMIM:606703
111	ADCY5	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:324588
111	ADCY5	HP:0001635	Congestive heart failure	HP:0040283	OMIM:606703
111	ADCY5	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:324588
111	ADCY5	HP:0001638	Cardiomyopathy	1/6	OMIM:619647
111	ADCY5	HP:0001638	Cardiomyopathy	1/3	OMIM:619651
111	ADCY5	HP:0032989	Delayed ability to roll over	2/2	OMIM:619651
111	ADCY5	HP:0000467	Neck muscle weakness	1/2	OMIM:606703
112	ADCY6	HP:0001284	Areflexia	3/3	OMIM:616287
112	ADCY6	HP:0001252	Hypotonia	2/2	OMIM:616287
112	ADCY6	HP:0001252	Hypotonia	HP:0040281	ORPHA:2680
112	ADCY6	HP:0003811	Neonatal death	1/2	OMIM:616287
112	ADCY6	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:2680
112	ADCY6	HP:0001371	Flexion contracture	-	OMIM:616287
112	ADCY6	HP:0001349	Facial diplegia	2/2	OMIM:616287
112	ADCY6	HP:0000007	Autosomal recessive inheritance	-	OMIM:616287
112	ADCY6	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:2680
112	ADCY6	HP:0002098	Respiratory distress	HP:0040281	ORPHA:2680
112	ADCY6	HP:0003457	EMG abnormality	HP:0040281	ORPHA:2680
112	ADCY6	HP:0003577	Congenital onset	1/1	OMIM:616287
112	ADCY6	HP:0200136	Oral-pharyngeal dysphagia	-	OMIM:616287
112	ADCY6	HP:0011968	Feeding difficulties	1/1	OMIM:616287
112	ADCY6	HP:0003693	Distal amyotrophy	1/1	OMIM:616287
112	ADCY6	HP:0007182	Peripheral hypomyelination	1/1	OMIM:616287
112	ADCY6	HP:0034197	Third trimester onset	2/2	OMIM:616287
112	ADCY6	HP:0005684	Distal arthrogryposis	2/2	OMIM:616287
112	ADCY6	HP:0001561	Polyhydramnios	0/2	OMIM:616287
112	ADCY6	HP:0001558	Decreased fetal movement	2/2	OMIM:616287
112	ADCY6	HP:0001522	Death in infancy	1/2	OMIM:616287
112	ADCY6	HP:0002936	Distal sensory impairment	1/1	OMIM:616287
112	ADCY6	HP:0001605	Vocal cord paralysis	1/1	OMIM:616287
112	ADCY6	HP:0001765	Hammertoe	1/1	OMIM:616287
112	ADCY6	HP:0001761	Pes cavus	1/1	OMIM:616287
118	ADD1	HP:0001426	Non-Mendelian inheritance	-	OMIM:145500
118	ADD1	HP:0004972	Elevated mean arterial pressure	-	OMIM:145500
118	ADD1	HP:0004421	Elevated systolic blood pressure	-	OMIM:145500
118	ADD1	HP:0005117	Elevated diastolic blood pressure	-	OMIM:145500
120	ADD3	HP:0007256	Abnormal pyramidal sign	2/4	OMIM:617008
120	ADD3	HP:0001250	Seizure	1/4	OMIM:617008
120	ADD3	HP:0001264	Spastic diplegia	-	OMIM:617008
120	ADD3	HP:0001260	Dysarthria	1/4	OMIM:617008
120	ADD3	HP:0001263	Global developmental delay	4/4	OMIM:617008
120	ADD3	HP:0001257	Spasticity	4/4	OMIM:617008
120	ADD3	HP:0003828	Variable expressivity	-	OMIM:617008
120	ADD3	HP:0002510	Spastic tetraplegia	-	OMIM:617008
120	ADD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:617008
120	ADD3	HP:0002015	Dysphagia	2/4	OMIM:617008
120	ADD3	HP:0100543	Cognitive impairment	-	OMIM:617008
120	ADD3	HP:0003593	Infantile onset	3/3	OMIM:617008
120	ADD3	HP:0002282	Gray matter heterotopia	1/4	OMIM:617008
120	ADD3	HP:0000639	Nystagmus	-	OMIM:617008
120	ADD3	HP:0000605	Supranuclear gaze palsy	-	OMIM:617008
120	ADD3	HP:0000750	Delayed speech and language development	2/4	OMIM:617008
120	ADD3	HP:0000252	Microcephaly	4/4	OMIM:617008
120	ADD3	HP:0000486	Strabismus	-	OMIM:617008
120	ADD3	HP:0025711	Convergence-retraction nystagmus	1/4	OMIM:617008
120	ADD3	HP:0000577	Exotropia	1/4	OMIM:617008
125	ADH1B	HP:0001426	Non-Mendelian inheritance	-	OMIM:103780
125	ADH1B	HP:0030955	Addictive alcohol use	-	OMIM:103780
126	ADH1C	HP:0007311	Short stepped shuffling gait	-	OMIM:168600
126	ADH1C	HP:0003745	Sporadic	-	OMIM:168600
126	ADH1C	HP:0001260	Dysarthria	-	OMIM:168600
126	ADH1C	HP:0002529	Neuronal loss in central nervous system	-	OMIM:168600
126	ADH1C	HP:0001332	Dystonia	-	OMIM:168600
126	ADH1C	HP:0000012	Urinary urgency	-	OMIM:168600
126	ADH1C	HP:0001337	Tremor	-	OMIM:168600
126	ADH1C	HP:0000006	Autosomal dominant inheritance	-	OMIM:168600
126	ADH1C	HP:0001300	Parkinsonism	-	OMIM:168600
126	ADH1C	HP:0001426	Non-Mendelian inheritance	-	OMIM:103780
126	ADH1C	HP:0002019	Constipation	-	OMIM:168600
126	ADH1C	HP:0002015	Dysphagia	-	OMIM:168600
126	ADH1C	HP:0002067	Bradykinesia	-	OMIM:168600
126	ADH1C	HP:0002063	Rigidity	-	OMIM:168600
126	ADH1C	HP:0030955	Addictive alcohol use	-	OMIM:103780
126	ADH1C	HP:0002172	Postural instability	-	OMIM:168600
126	ADH1C	HP:0003587	Insidious onset	-	OMIM:168600
126	ADH1C	HP:0003584	Late onset	-	OMIM:168600
126	ADH1C	HP:0003581	Adult onset	-	OMIM:168600
126	ADH1C	HP:0011960	Substantia nigra gliosis	-	OMIM:168600
126	ADH1C	HP:0002360	Sleep abnormality	-	OMIM:168600
126	ADH1C	HP:0003676	Progressive	-	OMIM:168600
126	ADH1C	HP:0002322	Resting tremor	-	OMIM:168600
126	ADH1C	HP:0031908	Micrographia	-	OMIM:168600
126	ADH1C	HP:0000751	Personality changes	-	OMIM:168600
126	ADH1C	HP:0000738	Hallucinations	HP:0040283	OMIM:168600
126	ADH1C	HP:0000716	Depression	-	OMIM:168600
126	ADH1C	HP:0000726	Dementia	-	OMIM:168600
126	ADH1C	HP:0100315	Lewy bodies	-	OMIM:168600
126	ADH1C	HP:0000298	Mask-like facies	-	OMIM:168600
126	ADH1C	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	OMIM:168600
126	ADH1C	HP:0001621	Weak voice	-	OMIM:168600
128	ADH5	HP:0001249	Intellectual disability	6/6	OMIM:619151
128	ADH5	HP:0010984	Digenic inheritance	-	OMIM:619151
128	ADH5	HP:0000013	Hypoplasia of the uterus	1/6	OMIM:619151
128	ADH5	HP:0032524	Long thumb	1/7	OMIM:619151
128	ADH5	HP:0007018	Attention deficit hyperactivity disorder	1/7	OMIM:619151
128	ADH5	HP:0004808	Acute myeloid leukemia	1/7	OMIM:619151
128	ADH5	HP:0005528	Bone marrow hypocellularity	-	OMIM:619151
128	ADH5	HP:0001903	Anemia	6/6	OMIM:619151
128	ADH5	HP:0004322	Short stature	7/7	OMIM:619151
128	ADH5	HP:0000729	Autistic behavior	1/7	OMIM:619151
128	ADH5	HP:0000835	Adrenal hypoplasia	1/7	OMIM:619151
128	ADH5	HP:0000953	Hyperpigmentation of the skin	4/7	OMIM:619151
128	ADH5	HP:0033044	Motor regression	4/7	OMIM:619151
128	ADH5	HP:0000268	Dolichocephaly	1/7	OMIM:619151
128	ADH5	HP:0000252	Microcephaly	6/7	OMIM:619151
128	ADH5	HP:0002863	Myelodysplasia	6/7	OMIM:619151
128	ADH5	HP:0001508	Failure to thrive	3/7	OMIM:619151
128	ADH5	HP:0005301	Persistent left superior vena cava	1/7	OMIM:619151
128	ADH5	HP:0000506	Telecanthus	3/7	OMIM:619151
128	ADH5	HP:0001882	Decreased total leukocyte count	4/7	OMIM:619151
128	ADH5	HP:0001873	Thrombocytopenia	6/6	OMIM:619151
132	ADK	HP:0002465	Poor speech	2/2	OMIM:614300
132	ADK	HP:0001250	Seizure	6/6	OMIM:614300
132	ADK	HP:0001252	Hypotonia	2/2	OMIM:614300
132	ADK	HP:0500210	Increased CSF methionine concentration	2/2	OMIM:614300
132	ADK	HP:0001397	Hepatic steatosis	1/5	OMIM:614300
132	ADK	HP:0001396	Cholestasis	3/5	OMIM:614300
132	ADK	HP:0001324	Muscle weakness	2/2	OMIM:614300
132	ADK	HP:0000007	Autosomal recessive inheritance	-	OMIM:614300
132	ADK	HP:0002007	Frontal bossing	6/6	OMIM:614300
132	ADK	HP:0002059	Cerebral atrophy	1/2	OMIM:614300
132	ADK	HP:0008151	Prolonged prothrombin time	4/5	OMIM:614300
132	ADK	HP:0003593	Infantile onset	-	OMIM:614300
132	ADK	HP:0003676	Progressive	-	OMIM:614300
132	ADK	HP:0010841	Multifocal epileptiform discharges	2/2	OMIM:614300
132	ADK	HP:0003623	Neonatal onset	2/2	OMIM:614300
132	ADK	HP:0034731	Elevated circulating S-adenosyl-L-methionine concentration	6/6	OMIM:614300
132	ADK	HP:0034730	Elevated circulating S-adenosyl-L-homocysteine concentration	5/6	OMIM:614300
132	ADK	HP:0011344	Severe global developmental delay	4/6	OMIM:614300
132	ADK	HP:0031964	Elevated circulating alanine aminotransferase concentration	6/6	OMIM:614300
132	ADK	HP:0012736	Profound global developmental delay	2/6	OMIM:614300
132	ADK	HP:0000750	Delayed speech and language development	2/2	OMIM:614300
132	ADK	HP:0003235	Hypermethioninemia	6/6	OMIM:614300
132	ADK	HP:0003236	Elevated circulating creatine kinase concentration	3/6	OMIM:614300
132	ADK	HP:0003202	Skeletal muscle atrophy	2/2	OMIM:614300
132	ADK	HP:0000256	Macrocephaly	5/6	OMIM:614300
132	ADK	HP:0001508	Failure to thrive	2/2	OMIM:614300
132	ADK	HP:0006580	Portal fibrosis	1/1	OMIM:614300
132	ADK	HP:0002904	Hyperbilirubinemia	5/5	OMIM:614300
132	ADK	HP:0001684	Secundum atrial septal defect	2/6	OMIM:614300
132	ADK	HP:0001680	Coarctation of aorta	1/6	OMIM:614300
132	ADK	HP:0000316	Hypertelorism	2/2	OMIM:614300
132	ADK	HP:0001642	Pulmonic stenosis	1/6	OMIM:614300
132	ADK	HP:0000407	Sensorineural hearing impairment	2/6	OMIM:614300
132	ADK	HP:0001786	Narrow foot	-	OMIM:614300
135	ADORA2A	HP:0032308	Increased circulating procalcitonin concentration	HP:0040282	ORPHA:363549
135	ADORA2A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040281	ORPHA:363549
135	ADORA2A	HP:0033349	Seizure cluster	HP:0040282	ORPHA:363549
135	ADORA2A	HP:0007103	Hypointensity of cerebral white matter on MRI	HP:0040282	ORPHA:363549
135	ADORA2A	HP:0007185	Loss of consciousness	HP:0040282	ORPHA:363549
135	ADORA2A	HP:0012705	Abnormal metabolic brain imaging by MRS	HP:0040282	ORPHA:363549
135	ADORA2A	HP:0011665	Takotsubo cardiomyopathy	HP:0040284	ORPHA:363549
135	ADORA2A	HP:0007738	Uncontrolled eye movements	HP:0040283	ORPHA:363549
135	ADORA2A	HP:0031475	Status epilepticus without prominent motor symptoms	HP:0040283	ORPHA:363549
135	ADORA2A	HP:0011172	Complex febrile seizure	HP:0040282	ORPHA:363549
135	ADORA2A	HP:0032894	Seizure precipitated by febrile infection	HP:0040282	ORPHA:363549
135	ADORA2A	HP:0031691	Severe viral infection	HP:0040282	ORPHA:363549
150	ADRA2A	HP:0025383	Dorsocervical fat pad	3/3	OMIM:620679
150	ADRA2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:620679
150	ADRA2A	HP:0002155	Hypertriglyceridemia	3/3	OMIM:620679
150	ADRA2A	HP:0002149	Hyperuricemia	1/3	OMIM:620679
150	ADRA2A	HP:0002240	Hepatomegaly	1/3	OMIM:620679
150	ADRA2A	HP:0003621	Juvenile onset	3/3	OMIM:620679
150	ADRA2A	HP:0001997	Gout	1/3	OMIM:620679
150	ADRA2A	HP:0003074	Hyperglycemia	3/3	OMIM:620679
150	ADRA2A	HP:0009125	Lipodystrophy	3/3	OMIM:620679
150	ADRA2A	HP:0000819	Diabetes mellitus	3/3	OMIM:620679
150	ADRA2A	HP:0000822	Hypertension	3/3	OMIM:620679
150	ADRA2A	HP:0003236	Elevated circulating creatine kinase concentration	3/3	OMIM:620679
150	ADRA2A	HP:0000956	Acanthosis nigricans	1/2	OMIM:620679
150	ADRA2A	HP:0002870	Obstructive sleep apnea	1/3	OMIM:620679
151	ADRA2B	HP:0001249	Intellectual disability	HP:0040283	ORPHA:86814
151	ADRA2B	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:86814
151	ADRA2B	HP:0001336	Myoclonus	HP:0040281	ORPHA:86814
151	ADRA2B	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:86814
151	ADRA2B	HP:0002197	Generalized-onset seizure	HP:0040282	ORPHA:86814
151	ADRA2B	HP:0002378	Hand tremor	HP:0040281	ORPHA:86814
151	ADRA2B	HP:0002353	EEG abnormality	HP:0040281	ORPHA:86814
151	ADRA2B	HP:0002315	Headache	HP:0040283	ORPHA:86814
153	ADRB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618591
153	ADRB1	HP:0033063	Shortened sleep phase	6/7	OMIM:618591
155	ADRB3	HP:0010982	Polygenic inheritance	-	OMIM:601665
155	ADRB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:601665
155	ADRB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:601665
155	ADRB3	HP:0031819	Increased waist to hip ratio	-	OMIM:601665
155	ADRB3	HP:0001513	Obesity	-	OMIM:601665
155	ADRB3	HP:0012340	Decreased resting energy expenditure	-	OMIM:601665
158	ADSL	HP:0001290	Generalized hypotonia	-	OMIM:103050
158	ADSL	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:46
158	ADSL	HP:0001272	Cerebellar atrophy	-	OMIM:103050
158	ADSL	HP:0001250	Seizure	HP:0040281	ORPHA:46
158	ADSL	HP:0001250	Seizure	-	OMIM:103050
158	ADSL	HP:0001252	Hypotonia	5/7	OMIM:103050
158	ADSL	HP:0001249	Intellectual disability	HP:0040281	ORPHA:46
158	ADSL	HP:0001249	Intellectual disability	-	OMIM:103050
158	ADSL	HP:0001263	Global developmental delay	7/7	OMIM:103050
158	ADSL	HP:0001257	Spasticity	-	OMIM:103050
158	ADSL	HP:0002540	Inability to walk	-	OMIM:103050
158	ADSL	HP:0001348	Brisk reflexes	-	OMIM:103050
158	ADSL	HP:0001344	Absent speech	HP:0040281	ORPHA:46
158	ADSL	HP:0000007	Autosomal recessive inheritance	-	OMIM:103050
158	ADSL	HP:0001336	Myoclonus	-	OMIM:103050
158	ADSL	HP:0000154	Wide mouth	-	OMIM:103050
158	ADSL	HP:0002066	Gait ataxia	-	OMIM:103050
158	ADSL	HP:0002059	Cerebral atrophy	6/7	OMIM:103050
158	ADSL	HP:0003429	CNS hypomyelination	5/7	OMIM:103050
158	ADSL	HP:0002179	Opisthotonus	-	OMIM:103050
158	ADSL	HP:0003593	Infantile onset	13/17	OMIM:103050
158	ADSL	HP:0003577	Congenital onset	2/7	OMIM:103050
158	ADSL	HP:6000390	Elevated urinary succinylaminoimidazole carboxamide riboside level	-	OMIM:103050
158	ADSL	HP:0007103	Hypointensity of cerebral white matter on MRI	HP:0040281	ORPHA:46
158	ADSL	HP:0002301	Hemiplegia	1/7	OMIM:103050
158	ADSL	HP:0003623	Neonatal onset	2/7	OMIM:103050
158	ADSL	HP:0006808	Cerebral hypomyelination	-	OMIM:103050
158	ADSL	HP:0000639	Nystagmus	-	OMIM:103050
158	ADSL	HP:0011344	Severe global developmental delay	-	OMIM:103050
158	ADSL	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:46
158	ADSL	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:46
158	ADSL	HP:0000752	Hyperactivity	-	OMIM:103050
158	ADSL	HP:0000750	Delayed speech and language development	-	OMIM:103050
158	ADSL	HP:0000748	Inappropriate laughter	-	OMIM:103050
158	ADSL	HP:0000742	Self-mutilation	-	OMIM:103050
158	ADSL	HP:0000718	Aggressive behavior	-	OMIM:103050
158	ADSL	HP:0000717	Autism	-	OMIM:103050
158	ADSL	HP:0003196	Short nose	-	OMIM:103050
158	ADSL	HP:0003196	Short nose	HP:0040281	ORPHA:46
158	ADSL	HP:0000817	Reduced eye contact	5/7	OMIM:103050
158	ADSL	HP:0040082	Happy demeanor	HP:0040283	OMIM:103050
158	ADSL	HP:0003202	Skeletal muscle atrophy	-	OMIM:103050
158	ADSL	HP:0000252	Microcephaly	HP:0040281	ORPHA:46
158	ADSL	HP:0000252	Microcephaly	5/7	OMIM:103050
158	ADSL	HP:0000248	Brachycephaly	-	OMIM:103050
158	ADSL	HP:0000248	Brachycephaly	HP:0040281	ORPHA:46
158	ADSL	HP:0000219	Thin upper lip vermilion	20/20	OMIM:103050
158	ADSL	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:46
158	ADSL	HP:0001510	Growth delay	-	OMIM:103050
158	ADSL	HP:0000369	Low-set ears	HP:0040281	ORPHA:46
158	ADSL	HP:0000369	Low-set ears	-	OMIM:103050
158	ADSL	HP:0000343	Long philtrum	-	OMIM:103050
158	ADSL	HP:0000343	Long philtrum	HP:0040281	ORPHA:46
158	ADSL	HP:0000319	Smooth philtrum	-	OMIM:103050
158	ADSL	HP:0000319	Smooth philtrum	HP:0040281	ORPHA:46
158	ADSL	HP:0000486	Strabismus	4/7	OMIM:103050
158	ADSL	HP:0000463	Anteverted nares	-	OMIM:103050
158	ADSL	HP:0000463	Anteverted nares	HP:0040281	ORPHA:46
158	ADSL	HP:0005487	Prominent metopic ridge	-	OMIM:103050
158	ADSL	HP:0005487	Prominent metopic ridge	HP:0040281	ORPHA:46
158	ADSL	HP:0005469	Flat occiput	HP:0040281	ORPHA:46
162	AP1B1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:171851
162	AP1B1	HP:0001249	Intellectual disability	2/2	OMIM:242150
162	AP1B1	HP:0001263	Global developmental delay	3/3	OMIM:242150
162	AP1B1	HP:0001394	Cirrhosis	-	OMIM:242150
162	AP1B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:242150
162	AP1B1	HP:0001406	Intrahepatic cholestasis	HP:0040282	ORPHA:171851
162	AP1B1	HP:0030948	Elevated gamma-glutamyltransferase level	0/3	OMIM:242150
162	AP1B1	HP:0002059	Cerebral atrophy	1/2	OMIM:242150
162	AP1B1	HP:0003577	Congenital onset	3/3	OMIM:242150
162	AP1B1	HP:0002242	Abnormal intestine morphology	HP:0040281	ORPHA:171851
162	AP1B1	HP:0011967	Decreased circulating copper concentration	HP:0040282	ORPHA:171851
162	AP1B1	HP:0011967	Decreased circulating copper concentration	3/3	OMIM:242150
162	AP1B1	HP:0001019	Erythroderma	3/3	OMIM:242150
162	AP1B1	HP:0010837	Decreased circulating ceruloplasmin concentration	HP:0040282	ORPHA:171851
162	AP1B1	HP:0010837	Decreased circulating ceruloplasmin concentration	3/3	OMIM:242150
162	AP1B1	HP:0009830	Peripheral neuropathy	0/3	OMIM:242150
162	AP1B1	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:171851
162	AP1B1	HP:0000633	Decreased lacrimation	-	OMIM:242150
162	AP1B1	HP:0000613	Photophobia	-	OMIM:242150
162	AP1B1	HP:0004322	Short stature	-	OMIM:242150
162	AP1B1	HP:0003073	Hypoalbuminemia	1/2	OMIM:242150
162	AP1B1	HP:0000982	Palmoplantar keratoderma	1/3	OMIM:242150
162	AP1B1	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:171851
162	AP1B1	HP:0008070	Sparse hair	3/3	OMIM:242150
162	AP1B1	HP:0008064	Ichthyosis	3/3	OMIM:242150
162	AP1B1	HP:0008064	Ichthyosis	HP:0040281	ORPHA:171851
162	AP1B1	HP:0001596	Alopecia	-	OMIM:242150
162	AP1B1	HP:0012202	Increased serum bile acid concentration	1/1	OMIM:242150
162	AP1B1	HP:0001508	Failure to thrive	-	OMIM:242150
162	AP1B1	HP:0002910	Elevated circulating hepatic transaminase concentration	1/3	OMIM:242150
162	AP1B1	HP:0000407	Sensorineural hearing impairment	3/3	OMIM:242150
162	AP1B1	HP:0000509	Conjunctivitis	-	OMIM:242150
162	AP1B1	HP:0001808	Fragile nails	-	OMIM:242150
162	AP1B1	HP:0000563	Keratoconus	-	OMIM:242150
162	AP1B1	HP:0000545	Myopia	-	OMIM:242150
164	AP1G1	HP:0001274	Agenesis of corpus callosum	1/3	OMIM:619548
164	AP1G1	HP:0001250	Seizure	2/3	OMIM:619548
164	AP1G1	HP:0001250	Seizure	3/7	OMIM:619467
164	AP1G1	HP:0001252	Hypotonia	3/3	OMIM:619548
164	AP1G1	HP:0001252	Hypotonia	6/7	OMIM:619467
164	AP1G1	HP:0001249	Intellectual disability	3/3	OMIM:619548
164	AP1G1	HP:0001249	Intellectual disability	8/8	OMIM:619467
164	AP1G1	HP:0001263	Global developmental delay	3/3	OMIM:619548
164	AP1G1	HP:0001263	Global developmental delay	8/8	OMIM:619467
164	AP1G1	HP:0001257	Spasticity	3/3	OMIM:619548
164	AP1G1	HP:0001257	Spasticity	1/7	OMIM:619467
164	AP1G1	HP:0001382	Joint hypermobility	2/3	OMIM:619548
164	AP1G1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619548
164	AP1G1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619467
164	AP1G1	HP:0004691	2-3 toe syndactyly	1/7	OMIM:619467
164	AP1G1	HP:0002007	Frontal bossing	1/7	OMIM:619467
164	AP1G1	HP:0004626	Lumbar scoliosis	1/3	OMIM:619548
164	AP1G1	HP:0030953	Conjunctival hyperemia	1/3	OMIM:619548
164	AP1G1	HP:0100716	Self-injurious behavior	1/8	OMIM:619467
164	AP1G1	HP:0004209	Clinodactyly of the 5th finger	1/7	OMIM:619467
164	AP1G1	HP:0000646	Amblyopia	1/6	OMIM:619467
164	AP1G1	HP:0000752	Hyperactivity	3/8	OMIM:619467
164	AP1G1	HP:0000767	Pectus excavatum	1/3	OMIM:619548
164	AP1G1	HP:0000768	Pectus carinatum	1/7	OMIM:619467
164	AP1G1	HP:0000739	Anxiety	1/8	OMIM:619467
164	AP1G1	HP:0000750	Delayed speech and language development	8/8	OMIM:619467
164	AP1G1	HP:0000750	Delayed speech and language development	3/3	OMIM:619548
164	AP1G1	HP:0000716	Depression	1/8	OMIM:619467
164	AP1G1	HP:0000718	Aggressive behavior	2/3	OMIM:619548
164	AP1G1	HP:0000718	Aggressive behavior	4/8	OMIM:619467
164	AP1G1	HP:0000729	Autistic behavior	3/8	OMIM:619467
164	AP1G1	HP:0000722	Compulsive behaviors	1/8	OMIM:619467
164	AP1G1	HP:0012803	Anisometropia	1/6	OMIM:619467
164	AP1G1	HP:0030820	Hooded eyelid	1/7	OMIM:619467
164	AP1G1	HP:0009381	Short finger	1/7	OMIM:619467
164	AP1G1	HP:0000286	Epicanthus	1/3	OMIM:619548
164	AP1G1	HP:0000262	Turricephaly	1/7	OMIM:619467
164	AP1G1	HP:0000218	High palate	1/3	OMIM:619548
164	AP1G1	HP:0002938	Lumbar hyperlordosis	1/6	OMIM:619467
164	AP1G1	HP:0002942	Thoracic kyphosis	1/6	OMIM:619467
164	AP1G1	HP:0000358	Posteriorly rotated ears	1/3	OMIM:619548
164	AP1G1	HP:0000369	Low-set ears	1/3	OMIM:619548
164	AP1G1	HP:0000343	Long philtrum	1/7	OMIM:619467
164	AP1G1	HP:0000336	Prominent supraorbital ridges	1/3	OMIM:619548
164	AP1G1	HP:0000316	Hypertelorism	1/3	OMIM:619548
164	AP1G1	HP:0000486	Strabismus	1/6	OMIM:619467
164	AP1G1	HP:0001763	Pes planus	1/7	OMIM:619467
164	AP1G1	HP:0011220	Prominent forehead	1/7	OMIM:619467
164	AP1G1	HP:0000565	Esotropia	1/6	OMIM:619467
165	AEBP1	HP:0009901	Crumpled ear	90/119	OMIM:121050
165	AEBP1	HP:0001181	Adducted thumb	42/90	OMIM:121050
165	AEBP1	HP:0001166	Arachnodactyly	104/124	OMIM:121050
165	AEBP1	HP:0001166	Arachnodactyly	124/197	OMIM:154700
165	AEBP1	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:536532
165	AEBP1	HP:0001166	Arachnodactyly	34/37	OMIM:182212
165	AEBP1	HP:0001166	Arachnodactyly	6/15	OMIM:208050
165	AEBP1	HP:0009938	Sunken cheeks	HP:0040283	ORPHA:536532
165	AEBP1	HP:0003745	Sporadic	-	OMIM:182212
165	AEBP1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
165	AEBP1	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
165	AEBP1	HP:0001290	Generalized hypotonia	-	OMIM:208050
165	AEBP1	HP:0001290	Generalized hypotonia	-	OMIM:182212
165	AEBP1	HP:0001270	Motor delay	HP:0040283	ORPHA:536532
165	AEBP1	HP:0001270	Motor delay	-	OMIM:121050
165	AEBP1	HP:0001270	Motor delay	2/5	OMIM:618000
165	AEBP1	HP:0025232	Bursitis	HP:0040283	ORPHA:536532
165	AEBP1	HP:0025232	Bursitis	1/4	OMIM:618000
165	AEBP1	HP:0001252	Hypotonia	HP:0040283	ORPHA:536532
165	AEBP1	HP:0001252	Hypotonia	2/4	OMIM:618000
165	AEBP1	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
165	AEBP1	HP:0001252	Hypotonia	26/37	OMIM:182212
165	AEBP1	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
165	AEBP1	HP:0001249	Intellectual disability	-	OMIM:182212
165	AEBP1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:536532
165	AEBP1	HP:0001263	Global developmental delay	-	OMIM:182212
165	AEBP1	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
165	AEBP1	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
165	AEBP1	HP:0034943	Decreased dermal collagen	2/2	OMIM:618000
165	AEBP1	HP:0003834	Shoulder dislocation	HP:0040283	ORPHA:536532
165	AEBP1	HP:0003834	Shoulder dislocation	2/3	OMIM:618000
165	AEBP1	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
165	AEBP1	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
165	AEBP1	HP:0000098	Tall stature	-	OMIM:154700
165	AEBP1	HP:0001377	Limited elbow extension	94/109	OMIM:121050
165	AEBP1	HP:0001377	Limited elbow extension	29/199	OMIM:154700
165	AEBP1	HP:0001371	Flexion contracture	-	OMIM:208050
165	AEBP1	HP:0001371	Flexion contracture	-	OMIM:154700
165	AEBP1	HP:0001373	Joint dislocation	HP:0040281	ORPHA:536532
165	AEBP1	HP:0001382	Joint hypermobility	1/1	OMIM:130050
165	AEBP1	HP:0001382	Joint hypermobility	2/2	OMIM:618000
165	AEBP1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:536532
165	AEBP1	HP:0001382	Joint hypermobility	12/14	OMIM:208050
165	AEBP1	HP:0001382	Joint hypermobility	11/53	OMIM:154700
165	AEBP1	HP:0001382	Joint hypermobility	31/47	OMIM:182212
165	AEBP1	HP:0000023	Inguinal hernia	11/11	OMIM:130050
165	AEBP1	HP:0000023	Inguinal hernia	1/3	OMIM:618000
165	AEBP1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000023	Inguinal hernia	8/15	OMIM:208050
165	AEBP1	HP:0000023	Inguinal hernia	19/34	OMIM:182212
165	AEBP1	HP:0001363	Craniosynostosis	18/37	OMIM:182212
165	AEBP1	HP:0000028	Cryptorchidism	1/1	OMIM:130050
165	AEBP1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000028	Cryptorchidism	1/3	OMIM:618000
165	AEBP1	HP:0000028	Cryptorchidism	1/13	OMIM:182212
165	AEBP1	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
165	AEBP1	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
165	AEBP1	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
165	AEBP1	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
165	AEBP1	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
165	AEBP1	HP:0031158	Widened atrophic scar	HP:0040281	ORPHA:536532
165	AEBP1	HP:0031158	Widened atrophic scar	1/1	OMIM:618000
165	AEBP1	HP:0007495	Prematurely aged appearance	2/2	OMIM:618000
165	AEBP1	HP:0007457	Prominent veins on trunk	HP:0040282	ORPHA:536532
165	AEBP1	HP:0003994	Dislocated wrist	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000007	Autosomal recessive inheritance	20/20	OMIM:618000
165	AEBP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
165	AEBP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
165	AEBP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
165	AEBP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
165	AEBP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
165	AEBP1	HP:0002650	Scoliosis	16/53	OMIM:154700
165	AEBP1	HP:0002650	Scoliosis	11/15	OMIM:121050
165	AEBP1	HP:0002650	Scoliosis	3/15	OMIM:208050
165	AEBP1	HP:0002650	Scoliosis	23/37	OMIM:182212
165	AEBP1	HP:0002647	Aortic dissection	1/58	OMIM:154700
165	AEBP1	HP:0002643	Neonatal respiratory distress	1/5	OMIM:618000
165	AEBP1	HP:0002619	Varicose veins	-	OMIM:130050
165	AEBP1	HP:0002619	Varicose veins	1/1	OMIM:618000
165	AEBP1	HP:0002619	Varicose veins	HP:0040283	ORPHA:536532
165	AEBP1	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
165	AEBP1	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
165	AEBP1	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
165	AEBP1	HP:0002616	Aortic root aneurysm	1/4	OMIM:618000
165	AEBP1	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:536532
165	AEBP1	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
165	AEBP1	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
165	AEBP1	HP:0000189	Narrow palate	-	OMIM:182212
165	AEBP1	HP:0000189	Narrow palate	-	OMIM:154700
165	AEBP1	HP:0000189	Narrow palate	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000193	Bifid uvula	0/14	OMIM:208050
165	AEBP1	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
165	AEBP1	HP:0012151	Hemothorax	3/4	OMIM:130050
165	AEBP1	HP:0001488	Bilateral ptosis	1/3	OMIM:618000
165	AEBP1	HP:0001488	Bilateral ptosis	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000139	Uterine prolapse	-	OMIM:130050
165	AEBP1	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
165	AEBP1	HP:0005001	Recurrent patellar dislocation	1/1	OMIM:618000
165	AEBP1	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
165	AEBP1	HP:0006243	Phalangeal dislocation	HP:0040283	ORPHA:536532
165	AEBP1	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
165	AEBP1	HP:0002761	Generalized joint hypermobility	4/4	OMIM:618000
165	AEBP1	HP:0002758	Osteoarthritis	2/2	OMIM:618000
165	AEBP1	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
165	AEBP1	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:536532
165	AEBP1	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
165	AEBP1	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
165	AEBP1	HP:0002036	Hiatus hernia	-	OMIM:208050
165	AEBP1	HP:0002007	Frontal bossing	-	OMIM:121050
165	AEBP1	HP:0002007	Frontal bossing	-	OMIM:182212
165	AEBP1	HP:0003302	Spondylolisthesis	-	OMIM:154700
165	AEBP1	HP:0100546	Carotid artery stenosis	HP:0040283	ORPHA:536532
165	AEBP1	HP:0100546	Carotid artery stenosis	1/2	OMIM:618000
165	AEBP1	HP:0002097	Emphysema	8/9	OMIM:130050
165	AEBP1	HP:0002097	Emphysema	HP:0040283	OMIM:154700
165	AEBP1	HP:0030961	Microspherophakia	2/53	OMIM:154700
165	AEBP1	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
165	AEBP1	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
165	AEBP1	HP:0008138	Equinus calcaneus	HP:0040283	ORPHA:536532
165	AEBP1	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
165	AEBP1	HP:0004602	Cervical C2/C3 vertebral fusion	1/1	OMIM:618000
165	AEBP1	HP:0010499	Patellar subluxation	12/22	OMIM:121050
165	AEBP1	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
165	AEBP1	HP:0002140	Ischemic stroke	-	OMIM:208050
165	AEBP1	HP:0002155	Hypertriglyceridemia	HP:0040283	ORPHA:536532
165	AEBP1	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
165	AEBP1	HP:0002107	Pneumothorax	2/2	OMIM:130050
165	AEBP1	HP:0002107	Pneumothorax	6/53	OMIM:154700
165	AEBP1	HP:0002105	Hemoptysis	6/10	OMIM:130050
165	AEBP1	HP:0003419	Low back pain	1/1	OMIM:618000
165	AEBP1	HP:0002162	Low posterior hairline	1/3	OMIM:618000
165	AEBP1	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
165	AEBP1	HP:0010562	Keloids	1/3	OMIM:618000
165	AEBP1	HP:0003593	Infantile onset	2/4	OMIM:618000
165	AEBP1	HP:0003593	Infantile onset	5/16	OMIM:208050
165	AEBP1	HP:0003577	Congenital onset	5/5	OMIM:121050
165	AEBP1	HP:0003577	Congenital onset	1/2	OMIM:618000
165	AEBP1	HP:0003577	Congenital onset	12/26	OMIM:208050
165	AEBP1	HP:0100718	Uterine rupture	-	OMIM:130050
165	AEBP1	HP:0004872	Incisional hernia	-	OMIM:154700
165	AEBP1	HP:0100775	Dural ectasia	112/140	OMIM:154700
165	AEBP1	HP:0100749	Chest pain	1/2	OMIM:130050
165	AEBP1	HP:0002293	Alopecia of scalp	-	OMIM:130050
165	AEBP1	HP:0034671	Knee contracture	7/14	OMIM:121050
165	AEBP1	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
165	AEBP1	HP:0010648	Dermal translucency	3/3	OMIM:130050
165	AEBP1	HP:0007099	Chiari type I malformation	-	OMIM:182212
165	AEBP1	HP:0001058	Poor wound healing	7/7	OMIM:618000
165	AEBP1	HP:0025019	Arterial rupture	-	OMIM:130050
165	AEBP1	HP:0001065	Striae distensae	11/53	OMIM:154700
165	AEBP1	HP:0001030	Fragile skin	-	OMIM:130050
165	AEBP1	HP:0001027	Soft, doughy skin	-	OMIM:208050
165	AEBP1	HP:0001027	Soft, doughy skin	1/1	OMIM:618000
165	AEBP1	HP:0001015	Prominent superficial veins	2/2	OMIM:618000
165	AEBP1	HP:0004976	Knee dislocation	1/1	OMIM:618000
165	AEBP1	HP:0004976	Knee dislocation	HP:0040282	ORPHA:536532
165	AEBP1	HP:0100645	Cystocele	-	OMIM:130050
165	AEBP1	HP:6000483	Empty sella turcica	1/4	OMIM:618000
165	AEBP1	HP:0100658	Cellulitis	1/4	OMIM:618000
165	AEBP1	HP:0100658	Cellulitis	HP:0040283	ORPHA:536532
165	AEBP1	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:536532
165	AEBP1	HP:0010810	Long uvula	HP:0040283	ORPHA:536532
165	AEBP1	HP:0010810	Long uvula	1/1	OMIM:618000
165	AEBP1	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:536532
165	AEBP1	HP:0001073	Cigarette-paper scars	-	OMIM:130050
165	AEBP1	HP:0001075	Atrophic scars	3/3	OMIM:618000
165	AEBP1	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
165	AEBP1	HP:0001083	Ectopia lentis	119/251	OMIM:154700
165	AEBP1	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
165	AEBP1	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
165	AEBP1	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
165	AEBP1	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
165	AEBP1	HP:0003623	Neonatal onset	1/1	OMIM:618000
165	AEBP1	HP:0003623	Neonatal onset	3/16	OMIM:208050
165	AEBP1	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
165	AEBP1	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
165	AEBP1	HP:0003621	Juvenile onset	2/16	OMIM:208050
165	AEBP1	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
165	AEBP1	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
165	AEBP1	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
165	AEBP1	HP:0001977	Abnormal thrombosis	-	OMIM:208050
165	AEBP1	HP:0001903	Anemia	1/1	OMIM:130050
165	AEBP1	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
165	AEBP1	HP:0000678	Dental crowding	8/53	OMIM:154700
165	AEBP1	HP:0000692	Tooth malposition	1/1	OMIM:618000
165	AEBP1	HP:0000692	Tooth malposition	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000689	Dental malocclusion	-	OMIM:182212
165	AEBP1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:536532
165	AEBP1	HP:0004322	Short stature	-	OMIM:130050
165	AEBP1	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
165	AEBP1	HP:0003088	Premature osteoarthritis	-	OMIM:154700
165	AEBP1	HP:0003083	Dislocated radial head	5/37	OMIM:182212
165	AEBP1	HP:0003066	Limited knee extension	38/45	OMIM:121050
165	AEBP1	HP:0003042	Elbow dislocation	1/12	OMIM:121050
165	AEBP1	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:536532
165	AEBP1	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
165	AEBP1	HP:0005684	Distal arthrogryposis	-	OMIM:121050
165	AEBP1	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
165	AEBP1	HP:0000767	Pectus excavatum	2/14	OMIM:121050
165	AEBP1	HP:0000767	Pectus excavatum	1/4	OMIM:130050
165	AEBP1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000767	Pectus excavatum	3/15	OMIM:208050
165	AEBP1	HP:0000767	Pectus excavatum	44/146	OMIM:154700
165	AEBP1	HP:0000767	Pectus excavatum	-	OMIM:182212
165	AEBP1	HP:0000768	Pectus carinatum	4/14	OMIM:121050
165	AEBP1	HP:0000768	Pectus carinatum	2/15	OMIM:208050
165	AEBP1	HP:0000768	Pectus carinatum	58/146	OMIM:154700
165	AEBP1	HP:0000768	Pectus carinatum	-	OMIM:182212
165	AEBP1	HP:0012727	Thoracic aortic aneurysm	1/4	OMIM:618000
165	AEBP1	HP:0000704	Periodontitis	-	OMIM:130050
165	AEBP1	HP:0000704	Periodontitis	1/1	OMIM:618000
165	AEBP1	HP:0000704	Periodontitis	HP:0040283	ORPHA:536532
165	AEBP1	HP:0011463	Childhood onset	1/2	OMIM:618000
165	AEBP1	HP:0011463	Childhood onset	1/16	OMIM:208050
165	AEBP1	HP:0011462	Young adult onset	3/16	OMIM:208050
165	AEBP1	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
165	AEBP1	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
165	AEBP1	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
165	AEBP1	HP:0004419	Recurrent thrombophlebitis	1/1	OMIM:618000
165	AEBP1	HP:0004417	Intermittent claudication	1/1	OMIM:618000
165	AEBP1	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
165	AEBP1	HP:0030799	Scaphocephaly	-	OMIM:121050
165	AEBP1	HP:0003199	Decreased muscle mass	-	OMIM:154700
165	AEBP1	HP:0034273	Premature sagging cheeks	1/1	OMIM:618000
165	AEBP1	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
165	AEBP1	HP:0003177	Squared iliac bones	1/4	OMIM:618000
165	AEBP1	HP:0000883	Thin ribs	-	OMIM:182212
165	AEBP1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000822	Hypertension	-	OMIM:208050
165	AEBP1	HP:0000895	Lateral clavicle hook	-	OMIM:182212
165	AEBP1	HP:0030871	Facet joint arthrosis	1/2	OMIM:618000
165	AEBP1	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
165	AEBP1	HP:0034391	Elbow contracture	10/14	OMIM:121050
165	AEBP1	HP:0003273	Hip contracture	32/121	OMIM:121050
165	AEBP1	HP:0045074	Thin eyebrow	-	OMIM:618000
165	AEBP1	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
165	AEBP1	HP:0000993	Molluscoid pseudotumors	1/1	OMIM:618000
165	AEBP1	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
165	AEBP1	HP:0000978	Bruising susceptibility	6/6	OMIM:618000
165	AEBP1	HP:0000978	Bruising susceptibility	HP:0040281	ORPHA:536532
165	AEBP1	HP:0000978	Bruising susceptibility	-	OMIM:208050
165	AEBP1	HP:0000977	Soft skin	7/15	OMIM:208050
165	AEBP1	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
165	AEBP1	HP:0000974	Hyperextensible skin	7/7	OMIM:618000
165	AEBP1	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:536532
165	AEBP1	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
165	AEBP1	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
165	AEBP1	HP:0000973	Cutis laxa	5/14	OMIM:208050
165	AEBP1	HP:0000987	Atypical scarring of skin	2/2	OMIM:618000
165	AEBP1	HP:0000953	Hyperpigmentation of the skin	1/3	OMIM:618000
165	AEBP1	HP:0000960	Sacral dimple	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000963	Thin skin	4/13	OMIM:208050
165	AEBP1	HP:0000938	Osteopenia	-	OMIM:121050
165	AEBP1	HP:0000938	Osteopenia	HP:0040281	ORPHA:536532
165	AEBP1	HP:0000938	Osteopenia	5/5	OMIM:618000
165	AEBP1	HP:0000938	Osteopenia	-	OMIM:182212
165	AEBP1	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
165	AEBP1	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
165	AEBP1	HP:0025586	Hypertropia	8/573	OMIM:154700
165	AEBP1	HP:0000278	Retrognathia	-	OMIM:154700
165	AEBP1	HP:0001596	Alopecia	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000260	Wide anterior fontanel	-	OMIM:182212
165	AEBP1	HP:0000275	Narrow face	-	OMIM:154700
165	AEBP1	HP:0000276	Long face	14/14	OMIM:208050
165	AEBP1	HP:0000276	Long face	-	OMIM:154700
165	AEBP1	HP:0000272	Malar flattening	9/14	OMIM:208050
165	AEBP1	HP:0000272	Malar flattening	31/53	OMIM:154700
165	AEBP1	HP:0000268	Dolichocephaly	-	OMIM:121050
165	AEBP1	HP:0000268	Dolichocephaly	36/53	OMIM:154700
165	AEBP1	HP:0000268	Dolichocephaly	28/37	OMIM:182212
165	AEBP1	HP:0005136	Mitral annular calcification	-	OMIM:154700
165	AEBP1	HP:0006439	Radioulnar dislocation	HP:0040283	ORPHA:536532
165	AEBP1	HP:0002816	Genu recurvatum	-	OMIM:182212
165	AEBP1	HP:0002816	Genu recurvatum	-	OMIM:154700
165	AEBP1	HP:0002827	Hip dislocation	HP:0040282	ORPHA:536532
165	AEBP1	HP:0002827	Hip dislocation	3/3	OMIM:618000
165	AEBP1	HP:0002808	Kyphosis	HP:0040283	ORPHA:536532
165	AEBP1	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
165	AEBP1	HP:0000244	Brachyturricephaly	-	OMIM:182212
165	AEBP1	HP:0000238	Hydrocephalus	13/37	OMIM:182212
165	AEBP1	HP:0000252	Microcephaly	6/37	OMIM:182212
165	AEBP1	HP:0001582	Redundant skin	7/7	OMIM:618000
165	AEBP1	HP:0001582	Redundant skin	HP:0040281	ORPHA:536532
165	AEBP1	HP:0000248	Brachycephaly	-	OMIM:121050
165	AEBP1	HP:0000218	High palate	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000218	High palate	34/53	OMIM:154700
165	AEBP1	HP:0000218	High palate	30/102	OMIM:121050
165	AEBP1	HP:0000218	High palate	2/4	OMIM:618000
165	AEBP1	HP:0000218	High palate	5/13	OMIM:208050
165	AEBP1	HP:0000218	High palate	30/37	OMIM:182212
165	AEBP1	HP:0000233	Thin vermilion border	-	OMIM:130050
165	AEBP1	HP:0030009	Cervical insufficiency	-	OMIM:130050
165	AEBP1	HP:0025509	Piezogenic pedal papules	HP:0040282	ORPHA:536532
165	AEBP1	HP:0002857	Genu valgum	4/37	OMIM:182212
165	AEBP1	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
165	AEBP1	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:536532
165	AEBP1	HP:0001537	Umbilical hernia	-	OMIM:208050
165	AEBP1	HP:0001537	Umbilical hernia	2/4	OMIM:618000
165	AEBP1	HP:0001537	Umbilical hernia	13/37	OMIM:182212
165	AEBP1	HP:0031364	Ecchymosis	-	OMIM:130050
165	AEBP1	HP:0001519	Disproportionate tall stature	-	OMIM:121050
165	AEBP1	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
165	AEBP1	HP:0007800	Increased axial length of the globe	-	OMIM:154700
165	AEBP1	HP:0012385	Camptodactyly	86/110	OMIM:121050
165	AEBP1	HP:0012385	Camptodactyly	19/53	OMIM:154700
165	AEBP1	HP:0012385	Camptodactyly	24/37	OMIM:182212
165	AEBP1	HP:0000387	Absent earlobe	-	OMIM:130050
165	AEBP1	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
165	AEBP1	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
165	AEBP1	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
165	AEBP1	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
165	AEBP1	HP:0002933	Ventral hernia	HP:0040282	ORPHA:536532
165	AEBP1	HP:0002933	Ventral hernia	2/3	OMIM:618000
165	AEBP1	HP:0002943	Thoracic scoliosis	2/5	OMIM:618000
165	AEBP1	HP:0002943	Thoracic scoliosis	HP:0040283	ORPHA:536532
165	AEBP1	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
165	AEBP1	HP:0006480	Premature loss of teeth	-	OMIM:130050
165	AEBP1	HP:0006480	Premature loss of teeth	HP:0040283	ORPHA:536532
165	AEBP1	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
165	AEBP1	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
165	AEBP1	HP:0001698	Pericardial effusion	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000369	Low-set ears	32/37	OMIM:182212
165	AEBP1	HP:0000343	Long philtrum	-	OMIM:208050
165	AEBP1	HP:0002999	Patellar dislocation	2/20	OMIM:121050
165	AEBP1	HP:0000347	Micrognathia	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000347	Micrognathia	-	OMIM:154700
165	AEBP1	HP:0000347	Micrognathia	26/94	OMIM:121050
165	AEBP1	HP:0000347	Micrognathia	1/3	OMIM:618000
165	AEBP1	HP:0000347	Micrognathia	5/14	OMIM:208050
165	AEBP1	HP:0000347	Micrognathia	33/37	OMIM:182212
165	AEBP1	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
165	AEBP1	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
165	AEBP1	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
165	AEBP1	HP:0000316	Hypertelorism	6/16	OMIM:208050
165	AEBP1	HP:0000316	Hypertelorism	28/37	OMIM:182212
165	AEBP1	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
165	AEBP1	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
165	AEBP1	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
165	AEBP1	HP:0001659	Aortic regurgitation	-	OMIM:208050
165	AEBP1	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
165	AEBP1	HP:0001653	Mitral regurgitation	-	OMIM:121050
165	AEBP1	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
165	AEBP1	HP:0001629	Ventricular septal defect	-	OMIM:121050
165	AEBP1	HP:0001635	Congestive heart failure	-	OMIM:154700
165	AEBP1	HP:0001631	Atrial septal defect	-	OMIM:121050
165	AEBP1	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
165	AEBP1	HP:0001634	Mitral valve prolapse	-	OMIM:130050
165	AEBP1	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
165	AEBP1	HP:0001634	Mitral valve prolapse	4/6	OMIM:618000
165	AEBP1	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:536532
165	AEBP1	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
165	AEBP1	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
165	AEBP1	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
165	AEBP1	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
165	AEBP1	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
165	AEBP1	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
165	AEBP1	HP:0000400	Macrotia	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000400	Macrotia	7/15	OMIM:208050
165	AEBP1	HP:0000400	Macrotia	2/3	OMIM:618000
165	AEBP1	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
165	AEBP1	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
165	AEBP1	HP:0000483	Astigmatism	3/53	OMIM:154700
165	AEBP1	HP:0000483	Astigmatism	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000483	Astigmatism	5/15	OMIM:208050
165	AEBP1	HP:0000486	Strabismus	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000486	Strabismus	110/573	OMIM:154700
165	AEBP1	HP:0000486	Strabismus	17/37	OMIM:182212
165	AEBP1	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
165	AEBP1	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
165	AEBP1	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
165	AEBP1	HP:0000490	Deeply set eye	25/63	OMIM:154700
165	AEBP1	HP:0000463	Anteverted nares	9/37	OMIM:182212
165	AEBP1	HP:0001786	Narrow foot	33/53	OMIM:154700
165	AEBP1	HP:0000470	Short neck	-	OMIM:121050
165	AEBP1	HP:0000470	Short neck	-	OMIM:618000
165	AEBP1	HP:0000465	Webbed neck	1/3	OMIM:618000
165	AEBP1	HP:0000465	Webbed neck	HP:0040283	ORPHA:536532
165	AEBP1	HP:0012432	Chronic fatigue	1/1	OMIM:618000
165	AEBP1	HP:0001763	Pes planus	HP:0040281	ORPHA:536532
165	AEBP1	HP:0001763	Pes planus	27/53	OMIM:154700
165	AEBP1	HP:0001763	Pes planus	5/5	OMIM:618000
165	AEBP1	HP:0001763	Pes planus	-	OMIM:182212
165	AEBP1	HP:0001765	Hammertoe	-	OMIM:154700
165	AEBP1	HP:0001765	Hammertoe	4/4	OMIM:618000
165	AEBP1	HP:0001765	Hammertoe	HP:0040281	ORPHA:536532
165	AEBP1	HP:0001780	Abnormal toe morphology	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
165	AEBP1	HP:0000418	Narrow nasal ridge	-	OMIM:130050
165	AEBP1	HP:0001760	Abnormal foot morphology	HP:0040281	ORPHA:536532
165	AEBP1	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
165	AEBP1	HP:0001762	Talipes equinovarus	-	OMIM:130050
165	AEBP1	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
165	AEBP1	HP:0001761	Pes cavus	49/146	OMIM:154700
165	AEBP1	HP:0000518	Cataract	118/199	OMIM:154700
165	AEBP1	HP:0001840	Metatarsus adductus	-	OMIM:121050
165	AEBP1	HP:0001840	Metatarsus adductus	-	OMIM:182212
165	AEBP1	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
165	AEBP1	HP:0001842	Foot acroosteolysis	-	OMIM:130050
165	AEBP1	HP:0001852	Sandal gap	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000520	Proptosis	29/37	OMIM:182212
165	AEBP1	HP:0001822	Hallux valgus	5/5	OMIM:618000
165	AEBP1	HP:0001822	Hallux valgus	HP:0040281	ORPHA:536532
165	AEBP1	HP:0000506	Telecanthus	-	OMIM:182212
165	AEBP1	HP:0000508	Ptosis	16/37	OMIM:182212
165	AEBP1	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
165	AEBP1	HP:0000501	Glaucoma	29/625	OMIM:154700
165	AEBP1	HP:0000581	Blepharophimosis	-	OMIM:208050
165	AEBP1	HP:0000577	Exotropia	72/626	OMIM:154700
165	AEBP1	HP:0000586	Shallow orbits	13/37	OMIM:182212
165	AEBP1	HP:0000563	Keratoconus	-	OMIM:130050
165	AEBP1	HP:0000563	Keratoconus	3/14	OMIM:208050
165	AEBP1	HP:0011220	Prominent forehead	17/37	OMIM:182212
165	AEBP1	HP:0000565	Esotropia	12/573	OMIM:154700
165	AEBP1	HP:0000541	Retinal detachment	-	OMIM:154700
165	AEBP1	HP:0001883	Talipes	13/53	OMIM:154700
165	AEBP1	HP:0000545	Myopia	-	OMIM:121050
165	AEBP1	HP:0000545	Myopia	HP:0040283	ORPHA:536532
165	AEBP1	HP:0000545	Myopia	6/15	OMIM:208050
165	AEBP1	HP:0000545	Myopia	93/251	OMIM:154700
165	AEBP1	HP:0000545	Myopia	9/37	OMIM:182212
174	AFP	HP:0000007	Autosomal recessive inheritance	-	OMIM:615969
174	AFP	HP:0000006	Autosomal dominant inheritance	-	OMIM:615970
174	AFP	HP:0006254	Elevated circulating alpha-fetoprotein concentration	-	OMIM:615970
174	AFP	HP:0045057	Decreased circulating alpha-fetoprotein concentration	-	OMIM:615969
175	AGA	HP:6000573	Reduced tissue aspartylglucosaminidase activity	3/3	OMIM:208400
175	AGA	HP:0008551	Microtia	HP:0040281	ORPHA:93
175	AGA	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
175	AGA	HP:0001293	Cranial nerve compression	-	OMIM:131300
175	AGA	HP:0001290	Generalized hypotonia	-	OMIM:208400
175	AGA	HP:0001250	Seizure	HP:0040283	ORPHA:93
175	AGA	HP:0001250	Seizure	-	OMIM:208400
175	AGA	HP:0001252	Hypotonia	2/7	OMIM:615777
175	AGA	HP:0001252	Hypotonia	-	OMIM:208400
175	AGA	HP:0001249	Intellectual disability	HP:0040281	ORPHA:93
175	AGA	HP:0001249	Intellectual disability	5/7	OMIM:615777
175	AGA	HP:0001249	Intellectual disability	-	OMIM:208400
175	AGA	HP:0001263	Global developmental delay	-	OMIM:615777
175	AGA	HP:0001257	Spasticity	-	OMIM:208400
175	AGA	HP:0002515	Waddling gait	54/102	OMIM:131300
175	AGA	HP:0012068	Aspartylglucosaminuria	-	OMIM:208400
175	AGA	HP:0012068	Aspartylglucosaminuria	HP:0040281	ORPHA:93
175	AGA	HP:0001369	Arthritis	HP:0040283	ORPHA:93
175	AGA	HP:0001387	Joint stiffness	HP:0040283	ORPHA:93
175	AGA	HP:0001382	Joint hypermobility	-	OMIM:615777
175	AGA	HP:0001382	Joint hypermobility	-	OMIM:208400
175	AGA	HP:0000053	Macroorchidism	-	OMIM:208400
175	AGA	HP:0000053	Macroorchidism	HP:0040282	ORPHA:93
175	AGA	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:93
175	AGA	HP:0002684	Thickened calvaria	-	OMIM:208400
175	AGA	HP:0002684	Thickened calvaria	HP:0040282	ORPHA:93
175	AGA	HP:0002694	Sclerosis of skull base	-	OMIM:131300
175	AGA	HP:0008897	Postnatal growth retardation	-	OMIM:615777
175	AGA	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
175	AGA	HP:0001324	Muscle weakness	40/96	OMIM:131300
175	AGA	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
175	AGA	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
175	AGA	HP:0000007	Autosomal recessive inheritance	-	OMIM:208400
175	AGA	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
175	AGA	HP:0002650	Scoliosis	HP:0040281	ORPHA:93
175	AGA	HP:0002650	Scoliosis	12/14	OMIM:131300
175	AGA	HP:0002650	Scoliosis	-	OMIM:208400
175	AGA	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
175	AGA	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
175	AGA	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
175	AGA	HP:0000179	Thick lower lip vermilion	-	OMIM:208400
175	AGA	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
175	AGA	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:93
175	AGA	HP:0000158	Macroglossia	-	OMIM:208400
175	AGA	HP:0000158	Macroglossia	HP:0040282	ORPHA:93
175	AGA	HP:0000175	Cleft palate	2/7	OMIM:615777
175	AGA	HP:0000154	Wide mouth	-	OMIM:208400
175	AGA	HP:0002756	Pathologic fracture	-	OMIM:208400
175	AGA	HP:0002738	Hypoplastic frontal sinuses	-	OMIM:208400
175	AGA	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:93
175	AGA	HP:0002750	Delayed skeletal maturation	-	OMIM:208400
175	AGA	HP:0002024	Malabsorption	HP:0040283	ORPHA:93
175	AGA	HP:0002014	Diarrhea	-	OMIM:208400
175	AGA	HP:0003304	Spondylolysis	-	OMIM:208400
175	AGA	HP:0003302	Spondylolisthesis	-	OMIM:208400
175	AGA	HP:0002059	Cerebral atrophy	-	OMIM:208400
175	AGA	HP:0003388	Easy fatigability	36/76	OMIM:131300
175	AGA	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
175	AGA	HP:0003468	Abnormal vertebral morphology	HP:0040283	ORPHA:93
175	AGA	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:93
175	AGA	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:93
175	AGA	HP:0002240	Hepatomegaly	-	OMIM:208400
175	AGA	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:93
175	AGA	HP:0002205	Recurrent respiratory infections	-	OMIM:208400
175	AGA	HP:0100790	Hernia	-	OMIM:208400
175	AGA	HP:0100729	Large face	HP:0040281	ORPHA:93
175	AGA	HP:0003510	Severe short stature	7/7	OMIM:615777
175	AGA	HP:0001061	Acne	-	OMIM:208400
175	AGA	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:93
175	AGA	HP:0002376	Developmental regression	-	OMIM:208400
175	AGA	HP:0002315	Headache	-	OMIM:131300
175	AGA	HP:0004976	Knee dislocation	6/7	OMIM:615777
175	AGA	HP:0100660	Dyskinesia	HP:0040281	ORPHA:93
175	AGA	HP:0001071	Angiokeratoma corporis diffusum	-	OMIM:208400
175	AGA	HP:0009803	Short phalanx of finger	-	OMIM:615777
175	AGA	HP:0008430	Anterior beaking of lumbar vertebrae	HP:0040282	ORPHA:93
175	AGA	HP:0009763	Limb pain	63/92	OMIM:131300
175	AGA	HP:0032198	Decreased prothrombin time	-	OMIM:208400
175	AGA	HP:0003621	Juvenile onset	-	OMIM:131300
175	AGA	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
175	AGA	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
175	AGA	HP:6001056	Out-toeing	-	OMIM:131300
175	AGA	HP:0000651	Diplopia	-	OMIM:131300
175	AGA	HP:0001956	Truncal obesity	2/7	OMIM:615777
175	AGA	HP:0001922	Vacuolated lymphocytes	-	OMIM:208400
175	AGA	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:208400
175	AGA	HP:0001903	Anemia	HP:0040283	OMIM:131300
175	AGA	HP:0010049	Short metacarpal	-	OMIM:615777
175	AGA	HP:0000678	Dental crowding	-	OMIM:615777
175	AGA	HP:0000670	Carious teeth	-	OMIM:131300
175	AGA	HP:0000670	Carious teeth	HP:0040282	ORPHA:93
175	AGA	HP:0011304	Broad thumb	2/7	OMIM:615777
175	AGA	HP:0000668	Hypodontia	-	OMIM:615777
175	AGA	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:93
175	AGA	HP:0000664	Synophrys	-	OMIM:615777
175	AGA	HP:0004322	Short stature	-	OMIM:208400
175	AGA	HP:0004396	Poor appetite	-	OMIM:131300
175	AGA	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
175	AGA	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
175	AGA	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
175	AGA	HP:0004337	Abnormality of amino acid metabolism	HP:0040281	ORPHA:93
175	AGA	HP:0003026	Short long bone	7/7	OMIM:615777
175	AGA	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
175	AGA	HP:0000767	Pectus excavatum	2/7	OMIM:615777
175	AGA	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:93
175	AGA	HP:0000768	Pectus carinatum	1/7	OMIM:615777
175	AGA	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
175	AGA	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:93
175	AGA	HP:0000750	Delayed speech and language development	-	OMIM:615777
175	AGA	HP:0000750	Delayed speech and language development	-	OMIM:208400
175	AGA	HP:0000708	Atypical behavior	HP:0040283	ORPHA:93
175	AGA	HP:0011463	Childhood onset	-	OMIM:208400
175	AGA	HP:0011461	Fetal onset	7/7	OMIM:615777
175	AGA	HP:0000774	Narrow chest	2/7	OMIM:615777
175	AGA	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:93
175	AGA	HP:0003196	Short nose	HP:0040281	ORPHA:93
175	AGA	HP:0000926	Platyspondyly	1/7	OMIM:615777
175	AGA	HP:0000926	Platyspondyly	-	OMIM:208400
175	AGA	HP:0003180	Flat acetabular roof	-	OMIM:615777
175	AGA	HP:0004482	Relative macrocephaly	-	OMIM:615777
175	AGA	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
175	AGA	HP:0000823	Delayed puberty	-	OMIM:131300
175	AGA	HP:0040071	Abnormal morphology of ulna	HP:0040282	ORPHA:93
175	AGA	HP:0000894	Short clavicles	-	OMIM:615777
175	AGA	HP:0004568	Beaking of vertebral bodies	-	OMIM:208400
175	AGA	HP:0004568	Beaking of vertebral bodies	HP:0040283	ORPHA:93
175	AGA	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
175	AGA	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
175	AGA	HP:0000943	Dysostosis multiplex	-	OMIM:208400
175	AGA	HP:0000286	Epicanthus	1/7	OMIM:615777
175	AGA	HP:0000283	Broad face	-	OMIM:208400
175	AGA	HP:0000280	Coarse facial features	HP:0040282	ORPHA:93
175	AGA	HP:0000280	Coarse facial features	2/7	OMIM:615777
175	AGA	HP:0000280	Coarse facial features	-	OMIM:208400
175	AGA	HP:0002827	Hip dislocation	3/7	OMIM:615777
175	AGA	HP:0002808	Kyphosis	-	OMIM:208400
175	AGA	HP:0000252	Microcephaly	-	OMIM:615777
175	AGA	HP:0000252	Microcephaly	-	OMIM:208400
175	AGA	HP:0000248	Brachycephaly	-	OMIM:208400
175	AGA	HP:0000212	Gingival overgrowth	HP:0040281	ORPHA:93
175	AGA	HP:0002857	Genu valgum	-	OMIM:131300
175	AGA	HP:0001537	Umbilical hernia	HP:0040281	ORPHA:93
175	AGA	HP:0001533	Slender build	-	OMIM:131300
175	AGA	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
175	AGA	HP:0007807	Optic nerve compression	-	OMIM:131300
175	AGA	HP:0012368	Flat face	7/7	OMIM:615777
175	AGA	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:93
175	AGA	HP:0001609	Hoarse voice	-	OMIM:208400
175	AGA	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
175	AGA	HP:0000365	Hearing impairment	10/67	OMIM:131300
175	AGA	HP:0000343	Long philtrum	1/7	OMIM:615777
175	AGA	HP:0011001	Increased bone mineral density	-	OMIM:131300
175	AGA	HP:0000316	Hypertelorism	HP:0040281	ORPHA:93
175	AGA	HP:0000311	Round face	2/7	OMIM:615777
175	AGA	HP:0001653	Mitral regurgitation	-	OMIM:208400
175	AGA	HP:0002970	Genu varum	-	OMIM:615777
175	AGA	HP:0000303	Mandibular prognathia	-	OMIM:131300
175	AGA	HP:0000303	Mandibular prognathia	HP:0040281	ORPHA:93
175	AGA	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
175	AGA	HP:0005280	Depressed nasal bridge	-	OMIM:208400
175	AGA	HP:0012471	Thick vermilion border	HP:0040281	ORPHA:93
175	AGA	HP:0000463	Anteverted nares	-	OMIM:208400
175	AGA	HP:0000470	Short neck	1/7	OMIM:615777
175	AGA	HP:0001769	Broad foot	HP:0040283	OMIM:615777
175	AGA	HP:0001763	Pes planus	HP:0040283	ORPHA:93
175	AGA	HP:0001763	Pes planus	1/7	OMIM:615777
175	AGA	HP:0001744	Splenomegaly	HP:0040283	ORPHA:93
175	AGA	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:93
175	AGA	HP:0011276	Vascular skin abnormality	HP:0040283	ORPHA:93
175	AGA	HP:0000518	Cataract	-	OMIM:208400
175	AGA	HP:0001840	Metatarsus adductus	-	OMIM:615777
175	AGA	HP:0000520	Proptosis	2/4	OMIM:131300
175	AGA	HP:0000520	Proptosis	7/7	OMIM:615777
175	AGA	HP:0000592	Blue sclerae	2/7	OMIM:615777
175	AGA	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
175	AGA	HP:0012514	Lower limb pain	4/4	OMIM:131300
175	AGA	HP:0001875	Decreased total neutrophil count	-	OMIM:208400
176	ACAN	HP:0001156	Brachydactyly	-	OMIM:612813
176	ACAN	HP:0001156	Brachydactyly	HP:0040281	ORPHA:171866
176	ACAN	HP:0001156	Brachydactyly	HP:0040282	ORPHA:435804
176	ACAN	HP:0001156	Brachydactyly	6/9	OMIM:165800
176	ACAN	HP:0007281	Developmental stagnation	HP:0040282	ORPHA:435804
176	ACAN	HP:0010886	Osteochondritis dissecans	1/8	OMIM:165800
176	ACAN	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
176	ACAN	HP:0001293	Cranial nerve compression	-	OMIM:131300
176	ACAN	HP:0001252	Hypotonia	2/7	OMIM:615777
176	ACAN	HP:0001249	Intellectual disability	5/7	OMIM:615777
176	ACAN	HP:0001263	Global developmental delay	-	OMIM:615777
176	ACAN	HP:0002515	Waddling gait	54/102	OMIM:131300
176	ACAN	HP:0002515	Waddling gait	-	OMIM:165800
176	ACAN	HP:0001382	Joint hypermobility	3/3	OMIM:612813
176	ACAN	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:171866
176	ACAN	HP:0001382	Joint hypermobility	-	OMIM:615777
176	ACAN	HP:0002694	Sclerosis of skull base	-	OMIM:131300
176	ACAN	HP:0008897	Postnatal growth retardation	-	OMIM:615777
176	ACAN	HP:0008843	Hip osteoarthritis	-	OMIM:165800
176	ACAN	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
176	ACAN	HP:0001324	Muscle weakness	40/96	OMIM:131300
176	ACAN	HP:0002655	Spondyloepiphyseal dysplasia	HP:0040281	ORPHA:93283
176	ACAN	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:608361
176	ACAN	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
176	ACAN	HP:0000007	Autosomal recessive inheritance	-	OMIM:612813
176	ACAN	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
176	ACAN	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
176	ACAN	HP:0000006	Autosomal dominant inheritance	-	OMIM:608361
176	ACAN	HP:0000006	Autosomal dominant inheritance	-	OMIM:165800
176	ACAN	HP:0002650	Scoliosis	12/14	OMIM:131300
176	ACAN	HP:0002651	Spondyloepimetaphyseal dysplasia	-	OMIM:612813
176	ACAN	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
176	ACAN	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
176	ACAN	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
176	ACAN	HP:0008905	Rhizomelia	3/3	OMIM:612813
176	ACAN	HP:0008905	Rhizomelia	HP:0040281	ORPHA:171866
176	ACAN	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
176	ACAN	HP:0000175	Cleft palate	2/7	OMIM:615777
176	ACAN	HP:0002795	Abnormal respiratory system physiology	HP:0040282	ORPHA:171866
176	ACAN	HP:0002758	Osteoarthritis	HP:0040281	ORPHA:93283
176	ACAN	HP:0002758	Osteoarthritis	HP:0040283	ORPHA:435804
176	ACAN	HP:0002750	Delayed skeletal maturation	-	OMIM:608361
176	ACAN	HP:0002007	Frontal bossing	-	OMIM:165800
176	ACAN	HP:0011800	Midface retrusion	-	OMIM:612813
176	ACAN	HP:0011800	Midface retrusion	HP:0040281	ORPHA:171866
176	ACAN	HP:0011800	Midface retrusion	HP:0040282	ORPHA:435804
176	ACAN	HP:0011800	Midface retrusion	6/9	OMIM:165800
176	ACAN	HP:0003370	Flat capital femoral epiphysis	-	OMIM:608361
176	ACAN	HP:0003388	Easy fatigability	36/76	OMIM:131300
176	ACAN	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
176	ACAN	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:93283
176	ACAN	HP:0010582	Irregular epiphyses	-	OMIM:612813
176	ACAN	HP:0100777	Exostoses	-	OMIM:165800
176	ACAN	HP:0003510	Severe short stature	7/7	OMIM:615777
176	ACAN	HP:0003508	Proportionate short stature	HP:0040281	ORPHA:93283
176	ACAN	HP:0003508	Proportionate short stature	-	OMIM:608361
176	ACAN	HP:0002315	Headache	-	OMIM:131300
176	ACAN	HP:0004976	Knee dislocation	6/7	OMIM:615777
176	ACAN	HP:0009803	Short phalanx of finger	-	OMIM:615777
176	ACAN	HP:0009778	Short thumb	HP:0040282	ORPHA:435804
176	ACAN	HP:0009778	Short thumb	3/9	OMIM:165800
176	ACAN	HP:0009763	Limb pain	63/92	OMIM:131300
176	ACAN	HP:0003621	Juvenile onset	-	OMIM:131300
176	ACAN	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
176	ACAN	HP:4000007	Bronchoconstriction	-	OMIM:612813
176	ACAN	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
176	ACAN	HP:6001056	Out-toeing	-	OMIM:131300
176	ACAN	HP:0000651	Diplopia	-	OMIM:131300
176	ACAN	HP:0001956	Truncal obesity	2/7	OMIM:615777
176	ACAN	HP:0001903	Anemia	HP:0040283	OMIM:131300
176	ACAN	HP:0010049	Short metacarpal	-	OMIM:615777
176	ACAN	HP:0010055	Broad hallux	HP:0040284	OMIM:165800
176	ACAN	HP:0000678	Dental crowding	-	OMIM:615777
176	ACAN	HP:0000670	Carious teeth	-	OMIM:131300
176	ACAN	HP:0011304	Broad thumb	3/3	OMIM:612813
176	ACAN	HP:0011304	Broad thumb	2/7	OMIM:615777
176	ACAN	HP:0011304	Broad thumb	HP:0040281	ORPHA:171866
176	ACAN	HP:0000668	Hypodontia	-	OMIM:615777
176	ACAN	HP:0000664	Synophrys	-	OMIM:615777
176	ACAN	HP:0004322	Short stature	8/9	OMIM:165800
176	ACAN	HP:0005616	Accelerated skeletal maturation	3/3	OMIM:165800
176	ACAN	HP:0003088	Premature osteoarthritis	1/8	OMIM:165800
176	ACAN	HP:0004396	Poor appetite	-	OMIM:131300
176	ACAN	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
176	ACAN	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
176	ACAN	HP:0003016	Metaphyseal widening	-	OMIM:612813
176	ACAN	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
176	ACAN	HP:0003026	Short long bone	7/7	OMIM:615777
176	ACAN	HP:0003027	Mesomelia	HP:0040281	ORPHA:171866
176	ACAN	HP:0003027	Mesomelia	3/3	OMIM:612813
176	ACAN	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
176	ACAN	HP:0000767	Pectus excavatum	2/7	OMIM:615777
176	ACAN	HP:0000768	Pectus carinatum	1/7	OMIM:615777
176	ACAN	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
176	ACAN	HP:0000750	Delayed speech and language development	-	OMIM:615777
176	ACAN	HP:0011461	Fetal onset	7/7	OMIM:615777
176	ACAN	HP:0000774	Narrow chest	2/7	OMIM:615777
176	ACAN	HP:0000926	Platyspondyly	HP:0040281	ORPHA:93283
176	ACAN	HP:0000926	Platyspondyly	-	OMIM:608361
176	ACAN	HP:0000926	Platyspondyly	-	OMIM:612813
176	ACAN	HP:0000926	Platyspondyly	1/7	OMIM:615777
176	ACAN	HP:0003180	Flat acetabular roof	-	OMIM:615777
176	ACAN	HP:0004482	Relative macrocephaly	HP:0040281	ORPHA:171866
176	ACAN	HP:0004482	Relative macrocephaly	3/3	OMIM:612813
176	ACAN	HP:0004482	Relative macrocephaly	-	OMIM:615777
176	ACAN	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
176	ACAN	HP:0000823	Delayed puberty	-	OMIM:131300
176	ACAN	HP:0000894	Short clavicles	-	OMIM:615777
176	ACAN	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
176	ACAN	HP:0010306	Short thorax	HP:0040281	ORPHA:93283
176	ACAN	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
176	ACAN	HP:0009381	Short finger	3/3	OMIM:612813
176	ACAN	HP:0000286	Epicanthus	1/7	OMIM:615777
176	ACAN	HP:0000280	Coarse facial features	2/7	OMIM:615777
176	ACAN	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:171866
176	ACAN	HP:0000272	Malar flattening	3/3	OMIM:612813
176	ACAN	HP:0002827	Hip dislocation	3/7	OMIM:615777
176	ACAN	HP:0000252	Microcephaly	-	OMIM:615777
176	ACAN	HP:0001552	Barrel-shaped chest	HP:0040281	ORPHA:171866
176	ACAN	HP:0001552	Barrel-shaped chest	3/3	OMIM:612813
176	ACAN	HP:0002857	Genu valgum	-	OMIM:608361
176	ACAN	HP:0002857	Genu valgum	-	OMIM:131300
176	ACAN	HP:0001533	Slender build	-	OMIM:131300
176	ACAN	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
176	ACAN	HP:0007807	Optic nerve compression	-	OMIM:131300
176	ACAN	HP:0012368	Flat face	7/7	OMIM:615777
176	ACAN	HP:0001609	Hoarse voice	2/3	OMIM:612813
176	ACAN	HP:0001609	Hoarse voice	HP:0040282	ORPHA:171866
176	ACAN	HP:0002938	Lumbar hyperlordosis	3/3	OMIM:612813
176	ACAN	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
176	ACAN	HP:0002938	Lumbar hyperlordosis	HP:0040284	OMIM:165800
176	ACAN	HP:0002938	Lumbar hyperlordosis	HP:0040281	ORPHA:171866
176	ACAN	HP:0000365	Hearing impairment	10/67	OMIM:131300
176	ACAN	HP:0000358	Posteriorly rotated ears	3/3	OMIM:612813
176	ACAN	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:171866
176	ACAN	HP:0000369	Low-set ears	3/3	OMIM:612813
176	ACAN	HP:0000343	Long philtrum	1/7	OMIM:615777
176	ACAN	HP:0011001	Increased bone mineral density	-	OMIM:131300
176	ACAN	HP:0002983	Micromelia	HP:0040281	ORPHA:93283
176	ACAN	HP:0000311	Round face	2/7	OMIM:615777
176	ACAN	HP:0002970	Genu varum	-	OMIM:608361
176	ACAN	HP:0002970	Genu varum	-	OMIM:615777
176	ACAN	HP:0000303	Mandibular prognathia	-	OMIM:131300
176	ACAN	HP:0000303	Mandibular prognathia	3/3	OMIM:612813
176	ACAN	HP:0000303	Mandibular prognathia	3/9	OMIM:165800
176	ACAN	HP:0000303	Mandibular prognathia	HP:0040281	ORPHA:171866
176	ACAN	HP:0005285	Absent nasal bridge	HP:0040281	ORPHA:171866
176	ACAN	HP:0005285	Absent nasal bridge	3/3	OMIM:612813
176	ACAN	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
176	ACAN	HP:0005280	Depressed nasal bridge	3/9	OMIM:165800
176	ACAN	HP:0000470	Short neck	3/3	OMIM:612813
176	ACAN	HP:0000470	Short neck	HP:0040281	ORPHA:171866
176	ACAN	HP:0000470	Short neck	1/7	OMIM:615777
176	ACAN	HP:0001769	Broad foot	HP:0040283	OMIM:615777
176	ACAN	HP:0001763	Pes planus	1/7	OMIM:615777
176	ACAN	HP:0001840	Metatarsus adductus	-	OMIM:615777
176	ACAN	HP:0000520	Proptosis	2/4	OMIM:131300
176	ACAN	HP:0000520	Proptosis	7/7	OMIM:615777
176	ACAN	HP:0000592	Blue sclerae	2/7	OMIM:615777
176	ACAN	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
176	ACAN	HP:0012514	Lower limb pain	4/4	OMIM:131300
178	AGL	HP:6000616	Reduced muscle glycogen debrancher enzyme activity	4/4	OMIM:232400
178	AGL	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:366
178	AGL	HP:0001395	Hepatic fibrosis	-	OMIM:232400
178	AGL	HP:0001324	Muscle weakness	-	OMIM:232400
178	AGL	HP:0000007	Autosomal recessive inheritance	-	OMIM:232400
178	AGL	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:366
178	AGL	HP:0011800	Midface retrusion	-	OMIM:232400
178	AGL	HP:0002155	Hypertriglyceridemia	HP:0040281	ORPHA:366
178	AGL	HP:0002240	Hepatomegaly	-	OMIM:232400
178	AGL	HP:0003693	Distal amyotrophy	-	OMIM:232400
178	AGL	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:366
178	AGL	HP:0001943	Hypoglycemia	-	OMIM:232400
178	AGL	HP:0004322	Short stature	HP:0040281	ORPHA:366
178	AGL	HP:0004322	Short stature	-	OMIM:232400
178	AGL	HP:0003077	Hyperlipidemia	-	OMIM:232400
178	AGL	HP:0003198	Myopathy	HP:0040282	ORPHA:366
178	AGL	HP:0003198	Myopathy	-	OMIM:232400
178	AGL	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:232400
178	AGL	HP:0000293	Full cheeks	HP:0040281	ORPHA:366
178	AGL	HP:0000272	Malar flattening	-	OMIM:232400
178	AGL	HP:0000219	Thin upper lip vermilion	-	OMIM:232400
178	AGL	HP:0000233	Thin vermilion border	-	OMIM:232400
178	AGL	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:232400
178	AGL	HP:0001638	Cardiomyopathy	-	OMIM:232400
178	AGL	HP:0001714	Ventricular hypertrophy	-	OMIM:232400
178	AGL	HP:0005280	Depressed nasal bridge	-	OMIM:232400
178	AGL	HP:0000490	Deeply set eye	-	OMIM:232400
178	AGL	HP:0000455	Broad nasal tip	-	OMIM:232400
181	AGRP	HP:0010982	Polygenic inheritance	-	OMIM:601665
181	AGRP	HP:0000007	Autosomal recessive inheritance	-	OMIM:601665
181	AGRP	HP:0000006	Autosomal dominant inheritance	-	OMIM:601665
181	AGRP	HP:0031819	Increased waist to hip ratio	-	OMIM:601665
181	AGRP	HP:0001513	Obesity	-	OMIM:601665
181	AGRP	HP:0012340	Decreased resting energy expenditure	-	OMIM:601665
182	JAG1	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3303
182	JAG1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
182	JAG1	HP:0002460	Distal muscle weakness	4/8	OMIM:619574
182	JAG1	HP:0003774	Stage 5 chronic kidney disease	4/187	OMIM:118450
182	JAG1	HP:0008659	Multiple small medullary renal cysts	-	OMIM:118450
182	JAG1	HP:0007328	Impaired pain sensation	3/8	OMIM:619574
182	JAG1	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:3303
182	JAG1	HP:0009882	Short distal phalanx of finger	-	OMIM:118450
182	JAG1	HP:0001297	Stroke	-	OMIM:118450
182	JAG1	HP:0001284	Areflexia	-	OMIM:118450
182	JAG1	HP:0001256	Intellectual disability, mild	1/4	OMIM:118450
182	JAG1	HP:0001252	Hypotonia	1/1	OMIM:118450
182	JAG1	HP:0001252	Hypotonia	1/8	OMIM:619574
182	JAG1	HP:0002522	Areflexia of lower limbs	5/8	OMIM:619574
182	JAG1	HP:0003829	Typified by incomplete penetrance	-	OMIM:118450
182	JAG1	HP:0000089	Renal hypoplasia	-	OMIM:118450
182	JAG1	HP:0000081	Duplicated collecting system	2/187	OMIM:118450
182	JAG1	HP:0000097	Focal segmental glomerulosclerosis	2/187	OMIM:118450
182	JAG1	HP:0001396	Cholestasis	4/4	OMIM:118450
182	JAG1	HP:0001399	Hepatic failure	38/174	OMIM:118450
182	JAG1	HP:0001394	Cirrhosis	-	OMIM:118450
182	JAG1	HP:0000076	Vesicoureteral reflux	6/187	OMIM:118450
182	JAG1	HP:0012046	Areflexia of upper limbs	4/8	OMIM:619574
182	JAG1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3303
182	JAG1	HP:0001328	Specific learning disability	-	OMIM:118450
182	JAG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
182	JAG1	HP:0001337	Tremor	2/8	OMIM:619574
182	JAG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619574
182	JAG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
182	JAG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
182	JAG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:118450
182	JAG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617992
182	JAG1	HP:0002650	Scoliosis	2/8	OMIM:619574
182	JAG1	HP:0031108	Triceps weakness	1/8	OMIM:619574
182	JAG1	HP:0001492	Axenfeld anomaly	-	OMIM:118450
182	JAG1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
182	JAG1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
182	JAG1	HP:0008954	Intrinsic hand muscle atrophy	1/8	OMIM:619574
182	JAG1	HP:0000110	Renal dysplasia	43/187	OMIM:118450
182	JAG1	HP:0001402	Hepatocellular carcinoma	-	OMIM:118450
182	JAG1	HP:0002751	Kyphoscoliosis	2/8	OMIM:619574
182	JAG1	HP:0002015	Dysphagia	1/8	OMIM:619574
182	JAG1	HP:0002007	Frontal bossing	1/1	OMIM:118450
182	JAG1	HP:0004617	Butterfly vertebral arch	1/4	OMIM:118450
182	JAG1	HP:0003392	First dorsal interossei muscle weakness	2/8	OMIM:619574
182	JAG1	HP:0002076	Migraine	1/8	OMIM:619574
182	JAG1	HP:0002155	Hypertriglyceridemia	-	OMIM:118450
182	JAG1	HP:0003593	Infantile onset	3/5	OMIM:118450
182	JAG1	HP:0003577	Congenital onset	3/8	OMIM:619574
182	JAG1	HP:0003577	Congenital onset	7/7	OMIM:617992
182	JAG1	HP:0100759	Clubbing of fingers	1/8	OMIM:619574
182	JAG1	HP:0002380	Fasciculations	1/8	OMIM:619574
182	JAG1	HP:0003687	Centrally nucleated skeletal muscle fibers	1/1	OMIM:619574
182	JAG1	HP:0010829	Impaired temperature sensation	4/8	OMIM:619574
182	JAG1	HP:0004969	Peripheral pulmonary artery stenosis	5/7	OMIM:617992
182	JAG1	HP:0004969	Peripheral pulmonary artery stenosis	5/5	OMIM:118450
182	JAG1	HP:0003621	Juvenile onset	8/19	OMIM:180100
182	JAG1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
182	JAG1	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:3303
182	JAG1	HP:0006886	Impaired distal vibration sensation	4/8	OMIM:619574
182	JAG1	HP:0001947	Renal tubular acidosis	7/187	OMIM:118450
182	JAG1	HP:0000627	Posterior embryotoxon	7/7	OMIM:617992
182	JAG1	HP:0000627	Posterior embryotoxon	1/4	OMIM:118450
182	JAG1	HP:0001920	Renal artery stenosis	2/187	OMIM:118450
182	JAG1	HP:0011344	Severe global developmental delay	1/1	OMIM:118450
182	JAG1	HP:0009027	Foot dorsiflexor weakness	1/8	OMIM:619574
182	JAG1	HP:0000662	Nyctalopia	26/28	OMIM:180100
182	JAG1	HP:0031986	Polyminimyoclonus	2/8	OMIM:619574
182	JAG1	HP:0031936	Delayed ability to walk	1/8	OMIM:619574
182	JAG1	HP:0003022	Hypoplasia of the ulna	-	OMIM:118450
182	JAG1	HP:0000772	Abnormal rib morphology	-	OMIM:118450
182	JAG1	HP:0000750	Delayed speech and language development	1/1	OMIM:118450
182	JAG1	HP:0011463	Childhood onset	3/19	OMIM:180100
182	JAG1	HP:0011463	Childhood onset	2/4	OMIM:118450
182	JAG1	HP:0011463	Childhood onset	5/8	OMIM:619574
182	JAG1	HP:0011462	Young adult onset	8/19	OMIM:180100
182	JAG1	HP:0003124	Hypercholesterolemia	-	OMIM:118450
182	JAG1	HP:0003189	Long nose	1/1	OMIM:118450
182	JAG1	HP:0004467	Preauricular pit	HP:0040282	ORPHA:3303
182	JAG1	HP:0004467	Preauricular pit	-	OMIM:187500
182	JAG1	HP:0010307	Stridor	8/8	OMIM:619574
182	JAG1	HP:0000969	Edema	2/8	OMIM:619574
182	JAG1	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:3303
182	JAG1	HP:0005105	Abnormal nasal morphology	HP:0040281	ORPHA:3303
182	JAG1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
182	JAG1	HP:0002895	Papillary thyroid carcinoma	-	OMIM:118450
182	JAG1	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:3303
182	JAG1	HP:0001508	Failure to thrive	-	OMIM:118450
182	JAG1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3303
182	JAG1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
182	JAG1	HP:0006571	Reduced number of intrahepatic bile ducts	4/4	OMIM:118450
182	JAG1	HP:0006579	Prolonged neonatal jaundice	-	OMIM:118450
182	JAG1	HP:0002937	Hemivertebrae	-	OMIM:118450
182	JAG1	HP:0001604	Vocal cord paresis	8/8	OMIM:619574
182	JAG1	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:118450
182	JAG1	HP:0000369	Low-set ears	1/1	OMIM:118450
182	JAG1	HP:0000337	Broad forehead	1/1	OMIM:118450
182	JAG1	HP:0000337	Broad forehead	-	OMIM:187500
182	JAG1	HP:0000337	Broad forehead	HP:0040281	ORPHA:3303
182	JAG1	HP:0001680	Coarctation of aorta	-	OMIM:118450
182	JAG1	HP:0000316	Hypertelorism	1/1	OMIM:118450
182	JAG1	HP:0000325	Triangular face	1/1	OMIM:118450
182	JAG1	HP:0001629	Ventricular septal defect	-	OMIM:118450
182	JAG1	HP:0001629	Ventricular septal defect	2/7	OMIM:617992
182	JAG1	HP:0030166	Night sweats	3/8	OMIM:619574
182	JAG1	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:3303
182	JAG1	HP:0001636	Tetralogy of Fallot	-	OMIM:118450
182	JAG1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
182	JAG1	HP:0001636	Tetralogy of Fallot	2/7	OMIM:617992
182	JAG1	HP:0001631	Atrial septal defect	-	OMIM:118450
182	JAG1	HP:0031629	Impaired tandem gait	1/8	OMIM:619574
182	JAG1	HP:0001738	Exocrine pancreatic insufficiency	-	OMIM:118450
182	JAG1	HP:0000407	Sensorineural hearing impairment	6/7	OMIM:617992
182	JAG1	HP:0000400	Macrotia	-	OMIM:118450
182	JAG1	HP:0005280	Depressed nasal bridge	-	OMIM:118450
182	JAG1	HP:0000486	Strabismus	-	OMIM:118450
182	JAG1	HP:0000482	Microcornea	-	OMIM:118450
182	JAG1	HP:0000490	Deeply set eye	1/1	OMIM:118450
182	JAG1	HP:0011120	Concave nasal ridge	1/1	OMIM:118450
182	JAG1	HP:0001751	Abnormal vestibular function	2/7	OMIM:617992
182	JAG1	HP:0000414	Bulbous nose	1/1	OMIM:118450
182	JAG1	HP:0001761	Pes cavus	6/8	OMIM:619574
182	JAG1	HP:0000518	Cataract	-	OMIM:118450
182	JAG1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
182	JAG1	HP:0000520	Proptosis	-	OMIM:187500
182	JAG1	HP:0000520	Proptosis	HP:0040282	ORPHA:3303
182	JAG1	HP:0000582	Upslanted palpebral fissure	-	OMIM:118450
182	JAG1	HP:0000585	Band keratopathy	-	OMIM:118450
182	JAG1	HP:0000580	Pigmentary retinopathy	-	OMIM:118450
182	JAG1	HP:0000575	Scotoma	5/18	OMIM:180100
182	JAG1	HP:0000593	Abnormal anterior chamber morphology	-	OMIM:118450
182	JAG1	HP:0000533	Chorioretinal atrophy	-	OMIM:118450
182	JAG1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
182	JAG1	HP:0000545	Myopia	-	OMIM:180100
182	JAG1	HP:0000545	Myopia	-	OMIM:118450
183	AGT	HP:0008660	Renotubular dysgenesis	-	OMIM:267430
183	AGT	HP:0000079	Abnormality of the urinary system	-	OMIM:267430
183	AGT	HP:0000007	Autosomal recessive inheritance	-	OMIM:267430
183	AGT	HP:0002615	Hypotension	-	OMIM:267430
183	AGT	HP:0002009	Potter facies	-	OMIM:267430
183	AGT	HP:0002089	Pulmonary hypoplasia	-	OMIM:267430
183	AGT	HP:0002093	Respiratory insufficiency	-	OMIM:267430
183	AGT	HP:0100519	Anuria	-	OMIM:267430
183	AGT	HP:0004492	Widely patent fontanelles and sutures	-	OMIM:267430
183	AGT	HP:0000252	Microcephaly	-	OMIM:267430
183	AGT	HP:0001562	Oligohydramnios	-	OMIM:267430
185	AGTR1	HP:0008660	Renotubular dysgenesis	-	OMIM:267430
185	AGTR1	HP:0000079	Abnormality of the urinary system	-	OMIM:267430
185	AGTR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:267430
185	AGTR1	HP:0002615	Hypotension	-	OMIM:267430
185	AGTR1	HP:0001426	Non-Mendelian inheritance	-	OMIM:145500
185	AGTR1	HP:0002009	Potter facies	-	OMIM:267430
185	AGTR1	HP:0002089	Pulmonary hypoplasia	-	OMIM:267430
185	AGTR1	HP:0002093	Respiratory insufficiency	-	OMIM:267430
185	AGTR1	HP:0100519	Anuria	-	OMIM:267430
185	AGTR1	HP:0004972	Elevated mean arterial pressure	-	OMIM:145500
185	AGTR1	HP:0004421	Elevated systolic blood pressure	-	OMIM:145500
185	AGTR1	HP:0004492	Widely patent fontanelles and sutures	-	OMIM:267430
185	AGTR1	HP:0005117	Elevated diastolic blood pressure	-	OMIM:145500
185	AGTR1	HP:0000252	Microcephaly	-	OMIM:267430
185	AGTR1	HP:0001562	Oligohydramnios	-	OMIM:267430
189	AGXT	HP:0001138	Optic neuropathy	-	OMIM:259900
189	AGXT	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:93598
189	AGXT	HP:0003761	Calcinosis	HP:0040281	ORPHA:93598
189	AGXT	HP:0001297	Stroke	HP:0040284	ORPHA:93598
189	AGXT	HP:0008672	Calcium oxalate nephrolithiasis	-	OMIM:259900
189	AGXT	HP:6000702	Elevated urinary glyoxylic acid level	2/2	OMIM:259900
189	AGXT	HP:0000083	Renal insufficiency	1/1	OMIM:259900
189	AGXT	HP:0025324	Arterial occlusion	-	OMIM:259900
189	AGXT	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:93598
189	AGXT	HP:0000007	Autosomal recessive inheritance	-	OMIM:259900
189	AGXT	HP:0002653	Bone pain	-	OMIM:259900
189	AGXT	HP:0002621	Atherosclerosis	HP:0040284	ORPHA:93598
189	AGXT	HP:0000164	Abnormality of the dentition	HP:0040284	ORPHA:93598
189	AGXT	HP:0000121	Nephrocalcinosis	1/1	OMIM:259900
189	AGXT	HP:0000121	Nephrocalcinosis	HP:0040281	ORPHA:93598
189	AGXT	HP:0002756	Pathologic fracture	-	OMIM:259900
189	AGXT	HP:0100518	Dysuria	HP:0040282	ORPHA:93598
189	AGXT	HP:0003593	Infantile onset	1/1	OMIM:259900
189	AGXT	HP:0100758	Gangrene	-	OMIM:259900
189	AGXT	HP:0001063	Acrocyanosis	-	OMIM:259900
189	AGXT	HP:6000431	Elevated urinary glycolic acid level	1/1	OMIM:259900
189	AGXT	HP:0009830	Peripheral neuropathy	-	OMIM:259900
189	AGXT	HP:0004950	Peripheral arterial stenosis	-	OMIM:259900
189	AGXT	HP:0030507	Retinal crystals	-	OMIM:259900
189	AGXT	HP:0000648	Optic atrophy	-	OMIM:259900
189	AGXT	HP:0001944	Dehydration	1/1	OMIM:259900
189	AGXT	HP:0001942	Metabolic acidosis	-	OMIM:259900
189	AGXT	HP:0001942	Metabolic acidosis	HP:0040281	ORPHA:93598
189	AGXT	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040284	ORPHA:93598
189	AGXT	HP:0001903	Anemia	HP:0040281	ORPHA:93598
189	AGXT	HP:0000805	Enuresis	HP:0040283	ORPHA:93598
189	AGXT	HP:0000790	Hematuria	-	OMIM:259900
189	AGXT	HP:0000790	Hematuria	HP:0040282	ORPHA:93598
189	AGXT	HP:0000787	Nephrolithiasis	HP:0040281	ORPHA:93598
189	AGXT	HP:0004417	Intermittent claudication	-	OMIM:259900
189	AGXT	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93598
189	AGXT	HP:0003159	Hyperoxaluria	1/1	OMIM:259900
189	AGXT	HP:0003159	Hyperoxaluria	HP:0040281	ORPHA:93598
189	AGXT	HP:0011506	Choroidal neovascularization	-	OMIM:259900
189	AGXT	HP:0030880	Raynaud phenomenon	-	OMIM:259900
189	AGXT	HP:0000965	Cutis marmorata	-	OMIM:259900
189	AGXT	HP:0012213	Decreased glomerular filtration rate	HP:0040282	ORPHA:93598
189	AGXT	HP:0025520	Calcinosis cutis	-	OMIM:259900
189	AGXT	HP:0001508	Failure to thrive	HP:0040282	ORPHA:93598
189	AGXT	HP:0035005	Reduced hepatic alanine-glyoxylate aminotransferase activity	-	OMIM:259900
189	AGXT	HP:0011021	Abnormal circulating enzyme concentration	HP:0040281	ORPHA:93598
189	AGXT	HP:0011001	Increased bone mineral density	-	OMIM:259900
189	AGXT	HP:0001678	Atrioventricular block	-	OMIM:259900
189	AGXT	HP:0000488	Retinopathy	-	OMIM:259900
190	NR0B1	HP:0001250	Seizure	HP:0040283	ORPHA:95702
190	NR0B1	HP:0008726	Hypoplasia of the vagina	HP:0040281	ORPHA:251510
190	NR0B1	HP:0008730	Female external genitalia in individual with 46,XY karyotype	HP:0040281	ORPHA:251510
190	NR0B1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:393
190	NR0B1	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:95702
190	NR0B1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:251510
190	NR0B1	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:251510
190	NR0B1	HP:0008715	Testicular dysgenesis	HP:0040281	ORPHA:242
190	NR0B1	HP:0008665	Clitoral hypertrophy	HP:0040281	ORPHA:251510
190	NR0B1	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:393
190	NR0B1	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:251510
190	NR0B1	HP:0000058	Abnormal labia morphology	HP:0040281	ORPHA:251510
190	NR0B1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:95702
190	NR0B1	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:300200
190	NR0B1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:242
190	NR0B1	HP:0000045	Abnormal scrotum morphology	HP:0040281	ORPHA:251510
190	NR0B1	HP:0000037	Male pseudohermaphroditism	HP:0040281	ORPHA:242
190	NR0B1	HP:0000054	Micropenis	HP:0040281	ORPHA:251510
190	NR0B1	HP:0000047	Hypospadias	HP:0040281	ORPHA:251510
190	NR0B1	HP:0000030	Testicular gonadoblastoma	HP:0040283	ORPHA:251510
190	NR0B1	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:393
190	NR0B1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:251510
190	NR0B1	HP:0000028	Cryptorchidism	-	OMIM:300200
190	NR0B1	HP:0000027	Azoospermia	-	OMIM:300200
190	NR0B1	HP:0000027	Azoospermia	HP:0040281	ORPHA:251510
190	NR0B1	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:251510
190	NR0B1	HP:0000142	Abnormal vagina morphology	HP:0040281	ORPHA:251510
190	NR0B1	HP:0000150	Gonadoblastoma	HP:0040282	ORPHA:251510
190	NR0B1	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:393
190	NR0B1	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:242
190	NR0B1	HP:0000149	Ovarian gonadoblastoma	HP:0040283	ORPHA:251510
190	NR0B1	HP:0000133	Gonadal dysgenesis	HP:0040281	ORPHA:251510
190	NR0B1	HP:0000127	Renal salt wasting	-	OMIM:300200
190	NR0B1	HP:0000100	Nephrotic syndrome	HP:0040284	ORPHA:251510
190	NR0B1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:251510
190	NR0B1	HP:0001419	X-linked recessive inheritance	-	OMIM:300200
190	NR0B1	HP:0001417	X-linked inheritance	-	OMIM:300018
190	NR0B1	HP:0002018	Nausea	HP:0040282	ORPHA:95702
190	NR0B1	HP:0002014	Diarrhea	HP:0040282	ORPHA:95702
190	NR0B1	HP:0002013	Vomiting	HP:0040282	ORPHA:95702
190	NR0B1	HP:0008193	Primary gonadal insufficiency	HP:0040283	ORPHA:251510
190	NR0B1	HP:0008197	Absence of pubertal development	-	OMIM:300200
190	NR0B1	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:251510
190	NR0B1	HP:0008186	Adrenocortical cytomegaly	HP:0040282	ORPHA:95702
190	NR0B1	HP:0008163	Decreased circulating cortisol level	-	OMIM:300200
190	NR0B1	HP:0008163	Decreased circulating cortisol level	HP:0040281	ORPHA:95702
190	NR0B1	HP:0010464	Streak ovary	HP:0040281	ORPHA:251510
190	NR0B1	HP:0002153	Hyperkalemia	HP:0040282	ORPHA:95702
190	NR0B1	HP:0008232	Elevated circulating follicle stimulating hormone level	HP:0040281	ORPHA:251510
190	NR0B1	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:251510
190	NR0B1	HP:0008207	Primary adrenal insufficiency	-	OMIM:300200
190	NR0B1	HP:0008207	Primary adrenal insufficiency	HP:0040282	ORPHA:95702
190	NR0B1	HP:0046504	Decreased libido	HP:0040282	ORPHA:95702
190	NR0B1	HP:0003593	Infantile onset	2/10	OMIM:300200
190	NR0B1	HP:0002215	Sparse axillary hair	HP:0040281	ORPHA:251510
190	NR0B1	HP:0003560	Muscular dystrophy	-	OMIM:300200
190	NR0B1	HP:0002225	Sparse pubic hair	HP:0040283	ORPHA:95702
190	NR0B1	HP:0002225	Sparse pubic hair	HP:0040281	ORPHA:251510
190	NR0B1	HP:0100779	Urogenital sinus anomaly	HP:0040281	ORPHA:251510
190	NR0B1	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040281	ORPHA:251510
190	NR0B1	HP:0002321	Vertigo	HP:0040282	ORPHA:95702
190	NR0B1	HP:0100639	Erectile dysfunction	HP:0040282	ORPHA:95702
190	NR0B1	HP:0003623	Neonatal onset	5/10	OMIM:300200
190	NR0B1	HP:0003621	Juvenile onset	1/10	OMIM:300200
190	NR0B1	HP:0001944	Dehydration	-	OMIM:300200
190	NR0B1	HP:0004319	Decreased circulating aldosterone concentration	-	OMIM:300200
190	NR0B1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040284	ORPHA:251510
190	NR0B1	HP:0000771	Gynecomastia	HP:0040281	ORPHA:251510
190	NR0B1	HP:0011463	Childhood onset	2/10	OMIM:300200
190	NR0B1	HP:0011462	Young adult onset	3/3	OMIM:300200
190	NR0B1	HP:0000798	Oligozoospermia	3/3	OMIM:300200
190	NR0B1	HP:0000798	Oligozoospermia	HP:0040282	ORPHA:95702
190	NR0B1	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:251510
190	NR0B1	HP:0003154	Increased circulating ACTH level	HP:0040280	ORPHA:95702
190	NR0B1	HP:0012870	Vanishing testis	HP:0040281	ORPHA:251510
190	NR0B1	HP:0000868	Decreased fertility in females	HP:0040281	ORPHA:251510
190	NR0B1	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:251510
190	NR0B1	HP:0000835	Adrenal hypoplasia	-	OMIM:300200
190	NR0B1	HP:0000846	Adrenal insufficiency	-	OMIM:300200
190	NR0B1	HP:0000846	Adrenal insufficiency	HP:0040283	ORPHA:251510
190	NR0B1	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:251510
190	NR0B1	HP:0000812	Abnormal internal genitalia	HP:0040281	ORPHA:251510
190	NR0B1	HP:0000826	Precocious puberty	-	OMIM:300200
190	NR0B1	HP:0000823	Delayed puberty	HP:0040282	ORPHA:95702
190	NR0B1	HP:0000823	Delayed puberty	HP:0040282	ORPHA:251510
190	NR0B1	HP:0000823	Delayed puberty	-	OMIM:300200
190	NR0B1	HP:0003251	Male infertility	HP:0040281	ORPHA:251510
190	NR0B1	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:95702
190	NR0B1	HP:0000953	Hyperpigmentation of the skin	2/10	OMIM:300200
190	NR0B1	HP:0000939	Osteoporosis	HP:0040281	ORPHA:251510
190	NR0B1	HP:0040171	Decreased serum testosterone concentration	HP:0040282	ORPHA:95702
190	NR0B1	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:251510
190	NR0B1	HP:0012244	Abnormal sex determination	HP:0040281	ORPHA:251510
190	NR0B1	HP:0012245	Sex reversal	-	OMIM:300018
190	NR0B1	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:95702
190	NR0B1	HP:0001508	Failure to thrive	-	OMIM:300200
190	NR0B1	HP:0012378	Fatigue	HP:0040282	ORPHA:95702
190	NR0B1	HP:0002902	Hyponatremia	-	OMIM:300200
190	NR0B1	HP:0002902	Hyponatremia	HP:0040282	ORPHA:95702
190	NR0B1	HP:0001824	Weight loss	HP:0040283	ORPHA:95702
190	NR0B1	HP:0030344	Decreased circulating luteinizing hormone level	HP:0040282	ORPHA:95702
191	AHCY	HP:0010919	Abnormal circulating homocysteine concentration	HP:0040281	ORPHA:88618
191	AHCY	HP:0010901	Abnormal circulating methionine concentration	HP:0040281	ORPHA:88618
191	AHCY	HP:0032234	Increased circulating creatine kinase MM isoform	1/1	OMIM:613752
191	AHCY	HP:0002421	Poor head control	1/1	OMIM:613752
191	AHCY	HP:0002421	Poor head control	HP:0040282	ORPHA:88618
191	AHCY	HP:0001270	Motor delay	-	OMIM:613752
191	AHCY	HP:0001252	Hypotonia	1/1	OMIM:613752
191	AHCY	HP:0001249	Intellectual disability	-	OMIM:613752
191	AHCY	HP:0001263	Global developmental delay	1/1	OMIM:613752
191	AHCY	HP:0001263	Global developmental delay	HP:0040282	ORPHA:88618
191	AHCY	HP:6000750	Decreased tissue S-adenosylhomocysteine hydrolase activity	1/1	OMIM:613752
191	AHCY	HP:0001392	Abnormality of the liver	HP:0040282	ORPHA:88618
191	AHCY	HP:0001324	Muscle weakness	HP:0040283	ORPHA:88618
191	AHCY	HP:0000007	Autosomal recessive inheritance	-	OMIM:613752
191	AHCY	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:88618
191	AHCY	HP:0031143	Decreased hepatic echogenicity	1/1	OMIM:613752
191	AHCY	HP:0000164	Abnormality of the dentition	-	OMIM:613752
191	AHCY	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:88618
191	AHCY	HP:0008947	Floppy infant	HP:0040282	ORPHA:88618
191	AHCY	HP:0012110	Hypoplasia of the pons	HP:0040282	ORPHA:88618
191	AHCY	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:88618
191	AHCY	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:88618
191	AHCY	HP:0008169	Reduced factor VII activity	HP:0040282	ORPHA:88618
191	AHCY	HP:0008151	Prolonged prothrombin time	HP:0040282	ORPHA:88618
191	AHCY	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:88618
191	AHCY	HP:0003429	CNS hypomyelination	HP:0040282	ORPHA:88618
191	AHCY	HP:0011900	Hypofibrinogenemia	HP:0040282	ORPHA:88618
191	AHCY	HP:0002160	Hyperhomocystinemia	HP:0040281	ORPHA:88618
191	AHCY	HP:0003593	Infantile onset	1/1	OMIM:613752
191	AHCY	HP:0003560	Muscular dystrophy	HP:0040282	ORPHA:88618
191	AHCY	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:613752
191	AHCY	HP:0010719	Abnormality of hair texture	HP:0040283	ORPHA:88618
191	AHCY	HP:0011996	Elevated coagulation factor V activity	HP:0040282	ORPHA:88618
191	AHCY	HP:0020045	Esodeviation	1/1	OMIM:613752
191	AHCY	HP:0002376	Developmental regression	HP:0040282	ORPHA:88618
191	AHCY	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:88618
191	AHCY	HP:0001976	Reduced antithrombin III activity	HP:0040282	ORPHA:88618
191	AHCY	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:88618
191	AHCY	HP:0001999	Abnormal facial shape	-	OMIM:613752
191	AHCY	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:88618
191	AHCY	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:613752
191	AHCY	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:613752
191	AHCY	HP:0003073	Hypoalbuminemia	1/1	OMIM:613752
191	AHCY	HP:0003073	Hypoalbuminemia	HP:0040281	ORPHA:88618
191	AHCY	HP:0000736	Short attention span	HP:0040282	ORPHA:88618
191	AHCY	HP:0012704	Widened subarachnoid space	HP:0040283	ORPHA:88618
191	AHCY	HP:0000708	Atypical behavior	HP:0040282	ORPHA:88618
191	AHCY	HP:0003235	Hypermethioninemia	1/1	OMIM:613752
191	AHCY	HP:0003235	Hypermethioninemia	HP:0040283	ORPHA:88618
191	AHCY	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:88618
191	AHCY	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040282	ORPHA:88618
191	AHCY	HP:0000252	Microcephaly	HP:0040283	ORPHA:88618
191	AHCY	HP:0002878	Respiratory failure	HP:0040283	ORPHA:88618
191	AHCY	HP:0001508	Failure to thrive	HP:0040282	ORPHA:88618
191	AHCY	HP:0001508	Failure to thrive	-	OMIM:613752
191	AHCY	HP:0001510	Growth delay	HP:0040282	ORPHA:88618
191	AHCY	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:88618
191	AHCY	HP:0001638	Cardiomyopathy	-	OMIM:613752
191	AHCY	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:88618
191	AHCY	HP:0000486	Strabismus	HP:0040282	ORPHA:88618
191	AHCY	HP:0012448	Delayed myelination	HP:0040282	ORPHA:88618
191	AHCY	HP:0001789	Hydrops fetalis	HP:0040282	ORPHA:88618
191	AHCY	HP:0001763	Pes planus	HP:0040283	ORPHA:88618
191	AHCY	HP:0000565	Esotropia	HP:0040282	ORPHA:88618
196	AHR	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
196	AHR	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
196	AHR	HP:0000007	Autosomal recessive inheritance	-	OMIM:618345
196	AHR	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
196	AHR	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
196	AHR	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
196	AHR	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
196	AHR	HP:0007675	Progressive night blindness	2/2	OMIM:618345
196	AHR	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
196	AHR	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
196	AHR	HP:0007663	Reduced visual acuity	2/2	OMIM:618345
196	AHR	HP:0003621	Juvenile onset	8/19	OMIM:180100
196	AHR	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
196	AHR	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
196	AHR	HP:0000618	Blindness	HP:0040281	ORPHA:791
196	AHR	HP:0000613	Photophobia	HP:0040281	ORPHA:791
196	AHR	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
196	AHR	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
196	AHR	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
196	AHR	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
196	AHR	HP:0000662	Nyctalopia	26/28	OMIM:180100
196	AHR	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
196	AHR	HP:0011463	Childhood onset	3/19	OMIM:180100
196	AHR	HP:0011462	Young adult onset	8/19	OMIM:180100
196	AHR	HP:0030786	Photopsia	HP:0040283	ORPHA:791
196	AHR	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
196	AHR	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
196	AHR	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
196	AHR	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
196	AHR	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
196	AHR	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
196	AHR	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
196	AHR	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
196	AHR	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
196	AHR	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
196	AHR	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
196	AHR	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
196	AHR	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
196	AHR	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
196	AHR	HP:0000510	Rod-cone dystrophy	-	OMIM:618345
196	AHR	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
196	AHR	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
196	AHR	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
196	AHR	HP:0000575	Scotoma	5/18	OMIM:180100
196	AHR	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
196	AHR	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
196	AHR	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
196	AHR	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
196	AHR	HP:0000543	Optic disc pallor	1/1	OMIM:180100
196	AHR	HP:0000545	Myopia	-	OMIM:180100
197	AHSG	HP:0001171	Split hand	HP:0040282	ORPHA:2850
197	AHSG	HP:0001156	Brachydactyly	HP:0040282	ORPHA:2850
197	AHSG	HP:0010864	Intellectual disability, severe	7/7	OMIM:203650
197	AHSG	HP:0001250	Seizure	HP:0040282	ORPHA:2850
197	AHSG	HP:0001252	Hypotonia	HP:0040281	ORPHA:2850
197	AHSG	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2850
197	AHSG	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:2850
197	AHSG	HP:0001371	Flexion contracture	HP:0040283	ORPHA:2850
197	AHSG	HP:0000007	Autosomal recessive inheritance	-	OMIM:203650
197	AHSG	HP:0002650	Scoliosis	HP:0040283	ORPHA:2850
197	AHSG	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2850
197	AHSG	HP:0011842	Abnormal skeletal morphology	HP:0040282	ORPHA:2850
197	AHSG	HP:0002231	Sparse body hair	HP:0040281	ORPHA:2850
197	AHSG	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:2850
197	AHSG	HP:0002289	Alopecia universalis	3/7	OMIM:203650
197	AHSG	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2850
197	AHSG	HP:0200012	Short corpus callosum	HP:0040282	ORPHA:2850
197	AHSG	HP:0000613	Photophobia	HP:0040282	ORPHA:2850
197	AHSG	HP:0004322	Short stature	HP:0040282	ORPHA:2850
197	AHSG	HP:0000815	Hypergonadotropic hypogonadism	HP:0040282	ORPHA:2850
197	AHSG	HP:0008064	Ichthyosis	HP:0040282	ORPHA:2850
197	AHSG	HP:0001596	Alopecia	HP:0040281	ORPHA:2850
197	AHSG	HP:0001596	Alopecia	7/7	OMIM:203650
197	AHSG	HP:0005105	Abnormal nasal morphology	HP:0040283	ORPHA:2850
197	AHSG	HP:0000252	Microcephaly	HP:0040281	ORPHA:2850
197	AHSG	HP:0001510	Growth delay	HP:0040282	ORPHA:2850
197	AHSG	HP:0000365	Hearing impairment	HP:0040281	ORPHA:2850
197	AHSG	HP:0000400	Macrotia	HP:0040283	ORPHA:2850
203	AK1	HP:6000558	Reduced erythrocyte adenylate kinase activity	6/6	OMIM:612631
203	AK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612631
203	AK1	HP:0001878	Hemolytic anemia	-	OMIM:612631
204	AK2	HP:0100806	Sepsis	-	OMIM:267500
204	AK2	HP:0100806	Sepsis	HP:0040281	ORPHA:33355
204	AK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:267500
204	AK2	HP:0002024	Malabsorption	HP:0040282	ORPHA:33355
204	AK2	HP:0002014	Diarrhea	HP:0040281	ORPHA:33355
204	AK2	HP:0010515	Aplasia/Hypoplasia of the thymus	HP:0040281	ORPHA:33355
204	AK2	HP:0011840	Abnormality of T cell physiology	-	OMIM:267500
204	AK2	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:33355
204	AK2	HP:0200042	Skin ulcer	HP:0040283	ORPHA:33355
204	AK2	HP:0005541	Congenital agranulocytosis	-	OMIM:267500
204	AK2	HP:0001944	Dehydration	HP:0040283	ORPHA:33355
204	AK2	HP:0001945	Fever	HP:0040282	ORPHA:33355
204	AK2	HP:0001903	Anemia	HP:0040281	ORPHA:33355
204	AK2	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:33355
204	AK2	HP:0000778	Hypoplasia of the thymus	-	OMIM:267500
204	AK2	HP:0004430	Severe combined immunodeficiency	HP:0040281	ORPHA:33355
204	AK2	HP:0003287	Abnormality of mitochondrial metabolism	HP:0040281	ORPHA:33355
204	AK2	HP:0000988	Skin rash	HP:0040283	ORPHA:33355
204	AK2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:33355
204	AK2	HP:0000389	Chronic otitis media	HP:0040281	ORPHA:33355
204	AK2	HP:0000365	Hearing impairment	HP:0040281	ORPHA:33355
204	AK2	HP:0005374	Cellular immunodeficiency	HP:0040281	ORPHA:33355
204	AK2	HP:0005387	Combined immunodeficiency	-	OMIM:267500
204	AK2	HP:0005354	Absent cellular immunity	-	OMIM:267500
204	AK2	HP:0001824	Weight loss	HP:0040282	ORPHA:33355
204	AK2	HP:0001888	Decreased total lymphocyte count	-	OMIM:267500
204	AK2	HP:0001882	Decreased total leukocyte count	-	OMIM:267500
204	AK2	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:33355
204	AK2	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:33355
207	AKT1	HP:0001156	Brachydactyly	HP:0040283	ORPHA:201
207	AKT1	HP:0001167	Abnormal finger morphology	HP:0040281	ORPHA:744
207	AKT1	HP:0025104	Capillary malformation	HP:0040282	ORPHA:744
207	AKT1	HP:0001140	Limbal dermoid	-	OMIM:176920
207	AKT1	HP:0009928	Thick nasal alae	HP:0040283	ORPHA:744
207	AKT1	HP:0003745	Sporadic	-	OMIM:176920
207	AKT1	HP:0003764	Nevus	-	OMIM:176920
207	AKT1	HP:0001102	Angioid streaks of the fundus	-	OMIM:615109
207	AKT1	HP:0003715	Myofibrillar myopathy	HP:0040283	ORPHA:744
207	AKT1	HP:0001269	Hemiparesis	HP:0040283	ORPHA:2495
207	AKT1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:2495
207	AKT1	HP:0001279	Syncope	HP:0040284	ORPHA:2495
207	AKT1	HP:0001256	Intellectual disability, mild	12%	OMIM:615109
207	AKT1	HP:0001250	Seizure	HP:0040283	ORPHA:744
207	AKT1	HP:0001250	Seizure	HP:0040283	ORPHA:201
207	AKT1	HP:0001250	Seizure	HP:0040282	ORPHA:2495
207	AKT1	HP:0001250	Seizure	-	OMIM:615109
207	AKT1	HP:0001251	Ataxia	HP:0040282	ORPHA:201
207	AKT1	HP:0001251	Ataxia	HP:0040283	ORPHA:2495
207	AKT1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:744
207	AKT1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:201
207	AKT1	HP:0001249	Intellectual disability	12%	OMIM:615109
207	AKT1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:201
207	AKT1	HP:0001262	Excessive daytime somnolence	HP:0040284	ORPHA:2495
207	AKT1	HP:0007440	Generalized hyperpigmentation	HP:0040283	ORPHA:744
207	AKT1	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:744
207	AKT1	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:744
207	AKT1	HP:0007403	Hypertrophy of skin of soles	-	OMIM:176920
207	AKT1	HP:0010997	Chromosomal breakage induced by ionizing radiation	HP:0040281	ORPHA:2495
207	AKT1	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:2495
207	AKT1	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:2495
207	AKT1	HP:0008675	Enlarged polycystic ovaries	HP:0040283	ORPHA:201
207	AKT1	HP:0008675	Enlarged polycystic ovaries	HP:0040283	ORPHA:744
207	AKT1	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:2495
207	AKT1	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:201
207	AKT1	HP:0002512	Brain stem compression	HP:0040284	ORPHA:2495
207	AKT1	HP:0012062	Bone cyst	HP:0040283	ORPHA:201
207	AKT1	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:201
207	AKT1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:2495
207	AKT1	HP:0000040	Long penis	HP:0040283	ORPHA:744
207	AKT1	HP:0012032	Lipoma	HP:0040282	ORPHA:201
207	AKT1	HP:0012032	Lipoma	-	OMIM:176920
207	AKT1	HP:0012032	Lipoma	HP:0040281	ORPHA:744
207	AKT1	HP:0000036	Abnormal penis morphology	HP:0040282	ORPHA:201
207	AKT1	HP:0001387	Joint stiffness	HP:0040283	ORPHA:744
207	AKT1	HP:0000053	Macroorchidism	HP:0040283	ORPHA:744
207	AKT1	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:2495
207	AKT1	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:744
207	AKT1	HP:0000034	Hydrocele testis	-	OMIM:615109
207	AKT1	HP:0007565	Multiple cafe-au-lait spots	HP:0040282	ORPHA:744
207	AKT1	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:201
207	AKT1	HP:0007552	Abnormal subcutaneous fat tissue distribution	HP:0040281	ORPHA:744
207	AKT1	HP:0007483	Depigmentation/hyperpigmentation of skin	-	OMIM:176920
207	AKT1	HP:0002664	Neoplasm	HP:0040282	ORPHA:201
207	AKT1	HP:0002664	Neoplasm	HP:0040283	ORPHA:744
207	AKT1	HP:0001342	Cerebral hemorrhage	HP:0040284	ORPHA:2495
207	AKT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
207	AKT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615109
207	AKT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
207	AKT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:167000
207	AKT1	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:744
207	AKT1	HP:0002650	Scoliosis	HP:0040281	ORPHA:744
207	AKT1	HP:0002650	Scoliosis	HP:0040283	ORPHA:201
207	AKT1	HP:0002650	Scoliosis	-	OMIM:615109
207	AKT1	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:2495
207	AKT1	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:201
207	AKT1	HP:0032445	Pulmonary cyst	HP:0040282	ORPHA:744
207	AKT1	HP:0032446	Pulmonary bulla	HP:0040282	ORPHA:744
207	AKT1	HP:0002625	Deep venous thrombosis	-	OMIM:176920
207	AKT1	HP:0000194	Open mouth	HP:0040283	ORPHA:744
207	AKT1	HP:0000194	Open mouth	-	OMIM:176920
207	AKT1	HP:0000160	Narrow mouth	-	OMIM:615109
207	AKT1	HP:0000158	Macroglossia	HP:0040282	ORPHA:201
207	AKT1	HP:0000141	Amenorrhea	HP:0040282	ORPHA:2495
207	AKT1	HP:0000138	Ovarian cyst	-	OMIM:615109
207	AKT1	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:744
207	AKT1	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:201
207	AKT1	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:201
207	AKT1	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:201
207	AKT1	HP:0002753	Thin bony cortex	-	OMIM:176920
207	AKT1	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
207	AKT1	HP:0001442	Typified by somatic mosaicism	-	OMIM:167000
207	AKT1	HP:0001442	Typified by somatic mosaicism	-	OMIM:176920
207	AKT1	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
207	AKT1	HP:0000107	Renal cyst	HP:0040283	ORPHA:744
207	AKT1	HP:0000105	Enlarged kidney	HP:0040283	ORPHA:744
207	AKT1	HP:0002751	Kyphoscoliosis	-	OMIM:176920
207	AKT1	HP:0002719	Recurrent infections	HP:0040283	ORPHA:744
207	AKT1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:2495
207	AKT1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:744
207	AKT1	HP:0100521	Neoplasm of the thymus	HP:0040283	ORPHA:744
207	AKT1	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:744
207	AKT1	HP:0002080	Intention tremor	-	OMIM:615109
207	AKT1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2495
207	AKT1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:201
207	AKT1	HP:0100560	Upper limb asymmetry	HP:0040281	ORPHA:744
207	AKT1	HP:0100555	Asymmetric growth	HP:0040281	ORPHA:744
207	AKT1	HP:0100559	Lower limb asymmetry	HP:0040281	ORPHA:744
207	AKT1	HP:0011752	Neoplasm of the posterior pituitary	HP:0040284	ORPHA:2495
207	AKT1	HP:0011750	Neoplasm of the anterior pituitary	HP:0040283	ORPHA:2495
207	AKT1	HP:0011730	Abnormal central sensory function	HP:0040283	ORPHA:2495
207	AKT1	HP:0100579	Mucosal telangiectasiae	HP:0040282	ORPHA:201
207	AKT1	HP:0010497	Sirenomelia	HP:0040283	ORPHA:744
207	AKT1	HP:0005916	Abnormal metacarpal morphology	HP:0040283	ORPHA:744
207	AKT1	HP:0008163	Decreased circulating cortisol level	HP:0040282	ORPHA:2495
207	AKT1	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:2495
207	AKT1	HP:0002101	Abnormal lung lobation	HP:0040282	ORPHA:744
207	AKT1	HP:0003418	Back pain	HP:0040284	ORPHA:2495
207	AKT1	HP:0003416	Spinal canal stenosis	-	OMIM:176920
207	AKT1	HP:0010609	Skin tags	-	OMIM:615109
207	AKT1	HP:0002167	Abnormal speech pattern	HP:0040284	ORPHA:2495
207	AKT1	HP:0002176	Spinal cord compression	-	OMIM:176920
207	AKT1	HP:0010566	Hamartoma	HP:0040282	ORPHA:744
207	AKT1	HP:0008240	Secondary growth hormone deficiency	HP:0040282	ORPHA:2495
207	AKT1	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:2495
207	AKT1	HP:0008237	Hypothalamic hypothyroidism	HP:0040283	ORPHA:2495
207	AKT1	HP:0010534	Transient global amnesia	HP:0040284	ORPHA:2495
207	AKT1	HP:0008214	Decreased serum estradiol	HP:0040282	ORPHA:2495
207	AKT1	HP:0010516	Thymus hyperplasia	HP:0040283	ORPHA:744
207	AKT1	HP:0008202	Reduced circulating prolactin concentration	HP:0040283	ORPHA:2495
207	AKT1	HP:0010508	Metatarsus valgus	HP:0040283	ORPHA:744
207	AKT1	HP:0009594	Retinal hamartoma	HP:0040283	ORPHA:744
207	AKT1	HP:0003593	Infantile onset	-	OMIM:176920
207	AKT1	HP:0002253	Colonic diverticula	-	OMIM:615109
207	AKT1	HP:0003581	Adult onset	-	OMIM:615109
207	AKT1	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:744
207	AKT1	HP:0002204	Pulmonary embolism	HP:0040282	ORPHA:744
207	AKT1	HP:0100764	Lymphangioma	-	OMIM:176920
207	AKT1	HP:0100764	Lymphangioma	HP:0040281	ORPHA:744
207	AKT1	HP:0100780	Conjunctival hamartoma	HP:0040281	ORPHA:201
207	AKT1	HP:0100777	Exostoses	HP:0040283	ORPHA:744
207	AKT1	HP:0100774	Hyperostosis	HP:0040282	ORPHA:744
207	AKT1	HP:0009720	Adenoma sebaceum	HP:0040282	ORPHA:201
207	AKT1	HP:0100730	Bronchogenic cyst	HP:0040282	ORPHA:744
207	AKT1	HP:0002282	Gray matter heterotopia	HP:0040283	ORPHA:744
207	AKT1	HP:0100761	Visceral angiomatosis	HP:0040282	ORPHA:744
207	AKT1	HP:0010628	Facial palsy	HP:0040283	ORPHA:2495
207	AKT1	HP:0010619	Fibroadenoma of the breast	-	OMIM:615109
207	AKT1	HP:0010614	Fibroma	HP:0040282	ORPHA:201
207	AKT1	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:201
207	AKT1	HP:0001048	Cavernous hemangioma	HP:0040282	ORPHA:201
207	AKT1	HP:0001067	Neurofibroma	HP:0040283	ORPHA:2495
207	AKT1	HP:0001031	Subcutaneous lipoma	-	OMIM:615109
207	AKT1	HP:0001028	Hemangioma	-	OMIM:176920
207	AKT1	HP:0001012	Multiple lipomas	-	OMIM:176920
207	AKT1	HP:0003676	Progressive	-	OMIM:176920
207	AKT1	HP:0002342	Intellectual disability, moderate	-	OMIM:176920
207	AKT1	HP:0001004	Lymphedema	HP:0040282	ORPHA:744
207	AKT1	HP:0002354	Memory impairment	HP:0040283	ORPHA:2495
207	AKT1	HP:0002315	Headache	HP:0040282	ORPHA:2495
207	AKT1	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:744
207	AKT1	HP:0100648	Neoplasm of the tongue	HP:0040284	ORPHA:2495
207	AKT1	HP:0100646	Thyroiditis	-	OMIM:615109
207	AKT1	HP:0025092	Epidermal acanthosis	-	OMIM:176920
207	AKT1	HP:0100661	Trigeminal neuralgia	HP:0040283	ORPHA:2495
207	AKT1	HP:0200034	Papule	HP:0040281	ORPHA:201
207	AKT1	HP:0010828	Hemifacial spasm	HP:0040284	ORPHA:2495
207	AKT1	HP:0010816	Epidermal nevus	-	OMIM:176920
207	AKT1	HP:0010816	Epidermal nevus	HP:0040281	ORPHA:744
207	AKT1	HP:0200063	Colorectal polyposis	HP:0040281	ORPHA:201
207	AKT1	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:744
207	AKT1	HP:0100615	Ovarian neoplasm	HP:0040283	ORPHA:744
207	AKT1	HP:0001072	Thickened skin	HP:0040281	ORPHA:744
207	AKT1	HP:0100621	Dysgerminoma	-	OMIM:167000
207	AKT1	HP:0001085	Papilledema	HP:0040283	ORPHA:2495
207	AKT1	HP:0010788	Testicular neoplasm	HP:0040283	ORPHA:744
207	AKT1	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:744
207	AKT1	HP:0030521	Bitemporal hemianopia	HP:0040282	ORPHA:2495
207	AKT1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:2495
207	AKT1	HP:0030532	Visual acuity test abnormality	HP:0040283	ORPHA:2495
207	AKT1	HP:0005595	Generalized hyperkeratosis	HP:0040281	ORPHA:201
207	AKT1	HP:0005595	Generalized hyperkeratosis	HP:0040282	ORPHA:744
207	AKT1	HP:0005584	Renal cell carcinoma	-	OMIM:114500
207	AKT1	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:201
207	AKT1	HP:0000618	Blindness	HP:0040284	ORPHA:2495
207	AKT1	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2495
207	AKT1	HP:0011386	Narrow internal auditory canal	HP:0040283	ORPHA:744
207	AKT1	HP:0012691	Focal T2 hypointense thalamic lesion	HP:0040282	ORPHA:2495
207	AKT1	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:744
207	AKT1	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:2495
207	AKT1	HP:0000670	Carious teeth	HP:0040283	ORPHA:744
207	AKT1	HP:0004322	Short stature	HP:0040283	ORPHA:201
207	AKT1	HP:0003002	Breast carcinoma	-	OMIM:167000
207	AKT1	HP:0003002	Breast carcinoma	-	OMIM:114480
207	AKT1	HP:0003002	Breast carcinoma	HP:0040281	ORPHA:201
207	AKT1	HP:0003002	Breast carcinoma	-	OMIM:615109
207	AKT1	HP:0004326	Cachexia	HP:0040281	ORPHA:744
207	AKT1	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:2495
207	AKT1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:744
207	AKT1	HP:0000802	Impotence	HP:0040282	ORPHA:2495
207	AKT1	HP:0004390	Hamartomatous polyposis	HP:0040282	ORPHA:201
207	AKT1	HP:0004390	Hamartomatous polyposis	-	OMIM:615109
207	AKT1	HP:0003019	Abnormality of the wrist	HP:0040283	ORPHA:744
207	AKT1	HP:0100010	Spinal meningioma	HP:0040283	ORPHA:2495
207	AKT1	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:201
207	AKT1	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:744
207	AKT1	HP:0100009	Intracranial meningioma	HP:0040281	ORPHA:2495
207	AKT1	HP:0000771	Gynecomastia	HP:0040283	ORPHA:201
207	AKT1	HP:0000771	Gynecomastia	-	OMIM:615109
207	AKT1	HP:0012733	Macule	HP:0040281	ORPHA:201
207	AKT1	HP:0012740	Papilloma	HP:0040281	ORPHA:201
207	AKT1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:201
207	AKT1	HP:0000767	Pectus excavatum	-	OMIM:615109
207	AKT1	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:201
207	AKT1	HP:0012721	Venous malformation	-	OMIM:176920
207	AKT1	HP:0012721	Venous malformation	HP:0040282	ORPHA:744
207	AKT1	HP:0100026	Arteriovenous malformation	HP:0040281	ORPHA:744
207	AKT1	HP:0000717	Autism	HP:0040283	ORPHA:201
207	AKT1	HP:0000712	Emotional lability	HP:0040284	ORPHA:2495
207	AKT1	HP:0030591	Abnormal kinetic perimetry test	HP:0040283	ORPHA:2495
207	AKT1	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:2495
207	AKT1	HP:0009125	Lipodystrophy	HP:0040282	ORPHA:744
207	AKT1	HP:0004437	Cranial hyperostosis	HP:0040281	ORPHA:744
207	AKT1	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:744
207	AKT1	HP:0004418	Thrombophlebitis	HP:0040282	ORPHA:744
207	AKT1	HP:0030766	Ear pain	HP:0040284	ORPHA:2495
207	AKT1	HP:0004408	Abnormality of the sense of smell	HP:0040283	ORPHA:2495
207	AKT1	HP:0003199	Decreased muscle mass	HP:0040281	ORPHA:744
207	AKT1	HP:0034275	Verrucous epidermal nevus	HP:0040282	ORPHA:744
207	AKT1	HP:0004481	Progressive macrocephaly	-	OMIM:615109
207	AKT1	HP:0004490	Calvarial hyperostosis	-	OMIM:176920
207	AKT1	HP:0004490	Calvarial hyperostosis	HP:0040282	ORPHA:744
207	AKT1	HP:0004459	Exostosis of the external auditory canal	HP:0040282	ORPHA:744
207	AKT1	HP:0004472	Mandibular hyperostosis	-	OMIM:176920
207	AKT1	HP:0012871	Varicocele	-	OMIM:615109
207	AKT1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:744
207	AKT1	HP:0000854	Thyroid adenoma	-	OMIM:615109
207	AKT1	HP:0000853	Goiter	HP:0040281	ORPHA:201
207	AKT1	HP:0000853	Goiter	-	OMIM:615109
207	AKT1	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:2495
207	AKT1	HP:0000836	Hyperthyroidism	-	OMIM:615109
207	AKT1	HP:0000821	Hypothyroidism	-	OMIM:615109
207	AKT1	HP:0000820	Abnormality of the thyroid gland	HP:0040282	ORPHA:201
207	AKT1	HP:0000896	Rib exostoses	HP:0040282	ORPHA:744
207	AKT1	HP:0030878	Abnormality on pulmonary function testing	HP:0040284	ORPHA:2495
207	AKT1	HP:0045026	Abnormal mediastinum morphology	HP:0040284	ORPHA:2495
207	AKT1	HP:6000007	Salivary basal cell adenoma	HP:0040283	ORPHA:744
207	AKT1	HP:6000009	Cerebriform connective tissue nevus	2/2	OMIM:176920
207	AKT1	HP:6000009	Cerebriform connective tissue nevus	HP:0040282	ORPHA:744
207	AKT1	HP:0000995	Melanocytic nevus	HP:0040281	ORPHA:744
207	AKT1	HP:0000995	Melanocytic nevus	HP:0040282	ORPHA:201
207	AKT1	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:615109
207	AKT1	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:201
207	AKT1	HP:0000962	Hyperkeratosis	-	OMIM:176920
207	AKT1	HP:0040171	Decreased serum testosterone concentration	HP:0040282	ORPHA:2495
207	AKT1	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:2495
207	AKT1	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:201
207	AKT1	HP:0007715	Weak extraocular muscles	HP:0040283	ORPHA:2495
207	AKT1	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:744
207	AKT1	HP:0012285	Abnormal hypothalamus physiology	HP:0040283	ORPHA:2495
207	AKT1	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:744
207	AKT1	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:2495
207	AKT1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:201
207	AKT1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:744
207	AKT1	HP:0000256	Macrocephaly	-	OMIM:176920
207	AKT1	HP:0000276	Long face	HP:0040283	ORPHA:744
207	AKT1	HP:0000276	Long face	-	OMIM:176920
207	AKT1	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:744
207	AKT1	HP:0000268	Dolichocephaly	-	OMIM:176920
207	AKT1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:744
207	AKT1	HP:0002808	Kyphosis	HP:0040283	ORPHA:201
207	AKT1	HP:0002808	Kyphosis	HP:0040281	ORPHA:744
207	AKT1	HP:0002808	Kyphosis	-	OMIM:615109
207	AKT1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2495
207	AKT1	HP:0000221	Furrowed tongue	HP:0040282	ORPHA:201
207	AKT1	HP:0000221	Furrowed tongue	-	OMIM:615109
207	AKT1	HP:0001548	Overgrowth	HP:0040281	ORPHA:744
207	AKT1	HP:0000218	High palate	HP:0040283	ORPHA:201
207	AKT1	HP:0000218	High palate	-	OMIM:615109
207	AKT1	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
207	AKT1	HP:0001555	Asymmetry of the thorax	HP:0040281	ORPHA:744
207	AKT1	HP:0002861	Melanoma	HP:0040283	ORPHA:201
207	AKT1	HP:0002858	Meningioma	HP:0040283	ORPHA:744
207	AKT1	HP:0002858	Meningioma	HP:0040282	ORPHA:201
207	AKT1	HP:0002858	Meningioma	-	OMIM:615109
207	AKT1	HP:0001528	Hemihypertrophy	-	OMIM:176920
207	AKT1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:201
207	AKT1	HP:0001519	Disproportionate tall stature	HP:0040281	ORPHA:744
207	AKT1	HP:0001513	Obesity	HP:0040283	ORPHA:2495
207	AKT1	HP:0007818	Central heterochromia	HP:0040283	ORPHA:744
207	AKT1	HP:0007899	Retinal nonattachment	HP:0040283	ORPHA:744
207	AKT1	HP:0006520	Progressive pulmonary function impairment	HP:0040284	ORPHA:2495
207	AKT1	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:2495
207	AKT1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:201
207	AKT1	HP:0000365	Hearing impairment	-	OMIM:615109
207	AKT1	HP:0000360	Tinnitus	HP:0040284	ORPHA:2495
207	AKT1	HP:0000369	Low-set ears	HP:0040283	ORPHA:744
207	AKT1	HP:0000347	Micrognathia	-	OMIM:615109
207	AKT1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:744
207	AKT1	HP:0000311	Round face	HP:0040282	ORPHA:744
207	AKT1	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:744
207	AKT1	HP:0000327	Hypoplasia of the maxilla	-	OMIM:615109
207	AKT1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:744
207	AKT1	HP:0001626	Abnormality of the cardiovascular system	-	OMIM:615109
207	AKT1	HP:0007924	Slow decrease in visual acuity	HP:0040283	ORPHA:2495
207	AKT1	HP:0005374	Cellular immunodeficiency	HP:0040283	ORPHA:201
207	AKT1	HP:0005306	Capillary hemangioma	HP:0040281	ORPHA:744
207	AKT1	HP:0000400	Macrotia	HP:0040282	ORPHA:744
207	AKT1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:744
207	AKT1	HP:0005280	Depressed nasal bridge	-	OMIM:176920
207	AKT1	HP:0000486	Strabismus	HP:0040283	ORPHA:744
207	AKT1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:744
207	AKT1	HP:0000494	Downslanted palpebral fissures	-	OMIM:176920
207	AKT1	HP:0011133	Increased sensitivity to ionizing radiation	HP:0040281	ORPHA:2495
207	AKT1	HP:0000464	Abnormality of the neck	HP:0040283	ORPHA:744
207	AKT1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:744
207	AKT1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:744
207	AKT1	HP:0001744	Splenomegaly	-	OMIM:176920
207	AKT1	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
207	AKT1	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
207	AKT1	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:615109
207	AKT1	HP:0006731	Follicular thyroid carcinoma	HP:0040283	ORPHA:201
207	AKT1	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
207	AKT1	HP:0011276	Vascular skin abnormality	HP:0040281	ORPHA:744
207	AKT1	HP:0005465	Facial hyperostosis	-	OMIM:176920
207	AKT1	HP:0006774	Ovarian papillary adenocarcinoma	-	OMIM:167000
207	AKT1	HP:0012505	Enlarged pituitary gland	HP:0040283	ORPHA:2495
207	AKT1	HP:0000518	Cataract	HP:0040283	ORPHA:201
207	AKT1	HP:0000518	Cataract	HP:0040283	ORPHA:744
207	AKT1	HP:0000518	Cataract	-	OMIM:615109
207	AKT1	HP:0000520	Proptosis	HP:0040284	ORPHA:2495
207	AKT1	HP:0000520	Proptosis	HP:0040283	ORPHA:744
207	AKT1	HP:0001822	Hallux valgus	HP:0040283	ORPHA:744
207	AKT1	HP:0000508	Ptosis	HP:0040283	ORPHA:744
207	AKT1	HP:0000508	Ptosis	-	OMIM:176920
207	AKT1	HP:0000501	Glaucoma	HP:0040283	ORPHA:744
207	AKT1	HP:0004099	Macrodactyly	HP:0040281	ORPHA:744
207	AKT1	HP:0030344	Decreased circulating luteinizing hormone level	HP:0040282	ORPHA:2495
207	AKT1	HP:0030341	Decreased circulating follicle stimulating hormone concentration	HP:0040282	ORPHA:2495
207	AKT1	HP:0000557	Buphthalmos	HP:0040283	ORPHA:744
207	AKT1	HP:0000567	Chorioretinal coloboma	HP:0040283	ORPHA:744
207	AKT1	HP:0000545	Myopia	HP:0040283	ORPHA:201
207	AKT1	HP:0000545	Myopia	HP:0040283	ORPHA:744
207	AKT1	HP:0000545	Myopia	-	OMIM:615109
208	AKT2	HP:0001397	Hepatic steatosis	HP:0040281	ORPHA:79085
208	AKT2	HP:0001325	Hypoglycemic coma	HP:0040281	ORPHA:293964
208	AKT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:240900
208	AKT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
208	AKT2	HP:0000147	Polycystic ovaries	HP:0040282	ORPHA:79085
208	AKT2	HP:0008993	Increased intraabdominal fat	HP:0040281	ORPHA:79085
208	AKT2	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
208	AKT2	HP:0002069	Bilateral tonic-clonic seizure	2/3	OMIM:240900
208	AKT2	HP:0002155	Hypertriglyceridemia	HP:0040281	ORPHA:79085
208	AKT2	HP:0002173	Hypoglycemic seizures	HP:0040281	ORPHA:293964
208	AKT2	HP:0003593	Infantile onset	2/3	OMIM:240900
208	AKT2	HP:0003577	Congenital onset	1/3	OMIM:240900
208	AKT2	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:79085
208	AKT2	HP:0003584	Late onset	-	OMIM:125853
208	AKT2	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
208	AKT2	HP:0001943	Hypoglycemia	2/3	OMIM:240900
208	AKT2	HP:0001958	Nonketotic hypoglycemia	HP:0040281	ORPHA:293964
208	AKT2	HP:0001956	Truncal obesity	HP:0040281	ORPHA:293964
208	AKT2	HP:0001956	Truncal obesity	-	OMIM:240900
208	AKT2	HP:0001985	Hypoketotic hypoglycemia	HP:0040281	ORPHA:293964
208	AKT2	HP:0001998	Neonatal hypoglycemia	HP:0040281	ORPHA:293964
208	AKT2	HP:0001998	Neonatal hypoglycemia	1/3	OMIM:240900
208	AKT2	HP:0030685	Decreased adiponectin level	HP:0040281	ORPHA:79085
208	AKT2	HP:0000771	Gynecomastia	1/2	OMIM:240900
208	AKT2	HP:0000771	Gynecomastia	HP:0040281	ORPHA:293964
208	AKT2	HP:0009125	Lipodystrophy	HP:0040280	ORPHA:79085
208	AKT2	HP:0030781	Increased circulating free fatty acid level	-	ORPHA:293964
208	AKT2	HP:0003162	Fasting hypoglycemia	2/3	OMIM:240900
208	AKT2	HP:0000876	Oligomenorrhea	HP:0040282	ORPHA:79085
208	AKT2	HP:0000855	Insulin resistance	-	OMIM:125853
208	AKT2	HP:0000855	Insulin resistance	HP:0040280	ORPHA:79085
208	AKT2	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040282	ORPHA:79085
208	AKT2	HP:0040214	Abnormal circulating insulin concentration	HP:0040281	ORPHA:293964
208	AKT2	HP:0040216	Hypoinsulinemia	3/3	OMIM:240900
208	AKT2	HP:0003292	Decreased serum leptin	HP:0040281	ORPHA:79085
208	AKT2	HP:0030812	Enlarged tonsils	HP:0040281	ORPHA:293964
208	AKT2	HP:0000956	Acanthosis nigricans	HP:0040281	ORPHA:79085
208	AKT2	HP:0001561	Polyhydramnios	1/3	OMIM:240900
208	AKT2	HP:0001528	Hemihypertrophy	1/3	OMIM:240900
208	AKT2	HP:0001528	Hemihypertrophy	HP:0040280	ORPHA:293964
208	AKT2	HP:0001520	Large for gestational age	HP:0040281	ORPHA:293964
208	AKT2	HP:0001520	Large for gestational age	1/3	OMIM:240900
208	AKT2	HP:0001513	Obesity	1/3	OMIM:240900
208	AKT2	HP:0006568	Increased hepatic glycogen content	HP:0040281	ORPHA:293964
208	AKT2	HP:0000324	Facial asymmetry	1/3	OMIM:240900
208	AKT2	HP:0002960	Autoimmunity	-	ORPHA:293964
210	ALAD	HP:0001271	Polyneuropathy	HP:0040283	ORPHA:100924
210	ALAD	HP:0001289	Confusion	HP:0040283	ORPHA:100924
210	ALAD	HP:0001288	Gait disturbance	HP:0040283	ORPHA:100924
210	ALAD	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:100924
210	ALAD	HP:0001252	Hypotonia	1/1	OMIM:612740
210	ALAD	HP:0001260	Dysarthria	HP:0040283	ORPHA:100924
210	ALAD	HP:0002572	Episodic vomiting	HP:0040283	ORPHA:100924
210	ALAD	HP:0100852	Abnormal fear-induced behavior	HP:0040283	ORPHA:100924
210	ALAD	HP:0001324	Muscle weakness	HP:0040282	ORPHA:100924
210	ALAD	HP:0000007	Autosomal recessive inheritance	-	OMIM:612740
210	ALAD	HP:0012187	Increased erythrocyte protoporphyrin concentration	HP:0040282	ORPHA:100924
210	ALAD	HP:0031258	Delirium	HP:0040283	ORPHA:100924
210	ALAD	HP:0002018	Nausea	HP:0040283	ORPHA:100924
210	ALAD	HP:0002019	Constipation	HP:0040283	ORPHA:100924
210	ALAD	HP:0002027	Abdominal pain	HP:0040282	ORPHA:100924
210	ALAD	HP:0002014	Diarrhea	HP:0040283	ORPHA:100924
210	ALAD	HP:0002013	Vomiting	-	OMIM:612740
210	ALAD	HP:0040322	Purple urine	HP:0040282	ORPHA:100924
210	ALAD	HP:0005946	Ventilator dependence with inability to wean	HP:0040283	ORPHA:100924
210	ALAD	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:100924
210	ALAD	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:100924
210	ALAD	HP:0010472	Abnormal circulating porphyrin concentration	HP:0040282	ORPHA:100924
210	ALAD	HP:0003470	Paralysis	-	OMIM:612740
210	ALAD	HP:0011848	Abdominal colic	-	OMIM:612740
210	ALAD	HP:0003401	Paresthesia	-	OMIM:612740
210	ALAD	HP:0003577	Congenital onset	1/1	OMIM:612740
210	ALAD	HP:0002203	Respiratory paralysis	1/1	OMIM:612740
210	ALAD	HP:0003690	Limb muscle weakness	HP:0040283	ORPHA:100924
210	ALAD	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:100924
210	ALAD	HP:0007159	Fluctuations in consciousness	HP:0040283	ORPHA:100924
210	ALAD	HP:0007178	Motor polyneuropathy	HP:0040283	ORPHA:100924
210	ALAD	HP:0005547	Myeloproliferative disorder	HP:0040283	ORPHA:100924
210	ALAD	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:100924
210	ALAD	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:100924
210	ALAD	HP:0000738	Hallucinations	HP:0040283	ORPHA:100924
210	ALAD	HP:0000739	Anxiety	HP:0040283	ORPHA:100924
210	ALAD	HP:0000741	Apathy	HP:0040283	ORPHA:100924
210	ALAD	HP:0000716	Depression	HP:0040283	ORPHA:100924
210	ALAD	HP:0000717	Autism	HP:0040283	ORPHA:100924
210	ALAD	HP:0000711	Restlessness	HP:0040283	ORPHA:100924
210	ALAD	HP:0000713	Agitation	HP:0040283	ORPHA:100924
210	ALAD	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:100924
210	ALAD	HP:0003163	Elevated urinary delta-aminolevulinic acid	1/1	OMIM:612740
210	ALAD	HP:0003270	Abdominal distention	HP:0040283	ORPHA:100924
210	ALAD	HP:0033010	Increased fecal coproporphyrin 3	HP:0040282	ORPHA:100924
210	ALAD	HP:0006466	Ankle flexion contracture	HP:0040283	ORPHA:100924
210	ALAD	HP:0012217	Increased urinary porphobilinogen	HP:0040282	ORPHA:100924
210	ALAD	HP:0001508	Failure to thrive	1/1	OMIM:612740
210	ALAD	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:100924
210	ALAD	HP:0002902	Hyponatremia	HP:0040283	ORPHA:100924
210	ALAD	HP:0000365	Hearing impairment	HP:0040283	ORPHA:100924
210	ALAD	HP:0011121	Abnormal skin morphology	-	ORPHA:100924
210	ALAD	HP:0030272	Abnormal erythrocyte enzyme concentration or activity	HP:0040282	ORPHA:100924
210	ALAD	HP:0001878	Hemolytic anemia	-	OMIM:612740
212	ALAS2	HP:0010972	Anemia of inadequate production	1/1	OMIM:300751
212	ALAS2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:75563
212	ALAS2	HP:0012187	Increased erythrocyte protoporphyrin concentration	-	OMIM:300752
212	ALAS2	HP:0025406	Asthenia	1/1	OMIM:300751
212	ALAS2	HP:0001423	X-linked dominant inheritance	-	OMIM:300752
212	ALAS2	HP:0001419	X-linked recessive inheritance	-	OMIM:300751
212	ALAS2	HP:0002094	Dyspnea	HP:0040283	ORPHA:75563
212	ALAS2	HP:0004840	Hypochromic microcytic anemia	1/1	OMIM:300751
212	ALAS2	HP:0001017	Anemic pallor	1/1	OMIM:300751
212	ALAS2	HP:0001081	Cholelithiasis	HP:0040283	OMIM:300752
212	ALAS2	HP:0001972	Macrocytic anemia	-	OMIM:300751
212	ALAS2	HP:0001952	Glucose intolerance	HP:0040283	ORPHA:75563
212	ALAS2	HP:0001924	Sideroblastic anemia	1/1	OMIM:300751
212	ALAS2	HP:0001903	Anemia	HP:0040281	ORPHA:75563
212	ALAS2	HP:0011463	Childhood onset	1/1	OMIM:300751
212	ALAS2	HP:0011463	Childhood onset	-	OMIM:300752
212	ALAS2	HP:0000980	Pallor	HP:0040281	ORPHA:75563
212	ALAS2	HP:0000992	Cutaneous photosensitivity	-	OMIM:300752
212	ALAS2	HP:0000953	Hyperpigmentation of the skin	HP:0040283	ORPHA:75563
212	ALAS2	HP:0012378	Fatigue	HP:0040281	ORPHA:75563
212	ALAS2	HP:0011031	Abnormality of iron homeostasis	HP:0040281	ORPHA:75563
212	ALAS2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	OMIM:300752
212	ALAS2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:75563
212	ALAS2	HP:0001744	Splenomegaly	HP:0040283	ORPHA:75563
212	ALAS2	HP:0001891	Iron deficiency anemia	HP:0040283	OMIM:300752
213	ALB	HP:0001263	Global developmental delay	2/11	OMIM:616000
213	ALB	HP:0032386	Elevated circulating transferrin concentration	2/2	OMIM:616000
213	ALB	HP:0031097	Abnormal thyroid-stimulating hormone level	0/1	OMIM:615999
213	ALB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615999
213	ALB	HP:0000007	Autosomal recessive inheritance	-	OMIM:616000
213	ALB	HP:0000006	Autosomal dominant inheritance	-	OMIM:615999
213	ALB	HP:0002615	Hypotension	-	OMIM:616000
213	ALB	HP:0002783	Recurrent lower respiratory tract infections	6/11	OMIM:616000
213	ALB	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:86816
213	ALB	HP:0008247	Euthyroid hyperthyroxinemia	3/3	OMIM:615999
213	ALB	HP:0010702	Increased circulating immunoglobulin concentration	HP:0040282	ORPHA:86816
213	ALB	HP:0010741	Pedal edema	HP:0040282	ORPHA:86816
213	ALB	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:86816
213	ALB	HP:0003077	Hyperlipidemia	HP:0040282	ORPHA:86816
213	ALB	HP:0003075	Hypoproteinemia	HP:0040282	ORPHA:86816
213	ALB	HP:0003073	Hypoalbuminemia	16/16	OMIM:616000
213	ALB	HP:0003073	Hypoalbuminemia	HP:0040281	ORPHA:86816
213	ALB	HP:0009125	Lipodystrophy	1/2	OMIM:616000
213	ALB	HP:0009125	Lipodystrophy	HP:0040282	ORPHA:86816
213	ALB	HP:0003124	Hypercholesterolemia	2/2	OMIM:616000
213	ALB	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:86816
213	ALB	HP:0003141	Increased LDL cholesterol concentration	2/2	OMIM:616000
213	ALB	HP:0030851	Low pulse pressure	HP:0040283	ORPHA:86816
213	ALB	HP:0033076	Abnormal circulating free T4 concentration	0/2	OMIM:615999
213	ALB	HP:0033077	Increased circulating free T4 concentration	1/1	OMIM:615999
213	ALB	HP:0000969	Edema	2/2	OMIM:616000
213	ALB	HP:0000969	Edema	HP:0040281	ORPHA:86816
213	ALB	HP:0000939	Osteoporosis	2/2	OMIM:616000
213	ALB	HP:0000282	Facial edema	HP:0040283	ORPHA:86816
213	ALB	HP:0001562	Oligohydramnios	3/11	OMIM:616000
213	ALB	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:86816
213	ALB	HP:0001518	Small for gestational age	HP:0040282	ORPHA:86816
213	ALB	HP:0001513	Obesity	HP:0040283	ORPHA:86816
213	ALB	HP:0012378	Fatigue	2/2	OMIM:616000
213	ALB	HP:0012378	Fatigue	HP:0040282	ORPHA:86816
213	ALB	HP:0005268	Miscarriage	HP:0040283	ORPHA:86816
213	ALB	HP:0001643	Patent ductus arteriosus	2/11	OMIM:616000
213	ALB	HP:0001622	Premature birth	HP:0040282	ORPHA:86816
213	ALB	HP:0005413	Increased alpha-globulin	HP:0040282	ORPHA:86816
215	ABCD1	HP:0007305	CNS demyelination	HP:0040281	ORPHA:139396
215	ABCD1	HP:0007266	Cerebral dysmyelination	HP:0040282	ORPHA:139399
215	ABCD1	HP:0100806	Sepsis	HP:0040283	ORPHA:388
215	ABCD1	HP:0100816	Lip hyperpigmentation	HP:0040282	ORPHA:139399
215	ABCD1	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:369942
215	ABCD1	HP:0001271	Polyneuropathy	-	OMIM:300100
215	ABCD1	HP:0001269	Hemiparesis	HP:0040283	ORPHA:139396
215	ABCD1	HP:0001268	Mental deterioration	HP:0040281	ORPHA:139396
215	ABCD1	HP:0001268	Mental deterioration	-	OMIM:300100
215	ABCD1	HP:0001289	Confusion	HP:0040283	ORPHA:139396
215	ABCD1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:139396
215	ABCD1	HP:0001283	Bulbar palsy	-	OMIM:300100
215	ABCD1	HP:0001285	Spastic tetraparesis	HP:0040283	ORPHA:139396
215	ABCD1	HP:0001250	Seizure	HP:0040282	ORPHA:369942
215	ABCD1	HP:0001250	Seizure	-	OMIM:300100
215	ABCD1	HP:0001250	Seizure	HP:0040283	ORPHA:139396
215	ABCD1	HP:0001251	Ataxia	HP:0040283	ORPHA:139396
215	ABCD1	HP:0001260	Dysarthria	HP:0040283	ORPHA:139399
215	ABCD1	HP:0001260	Dysarthria	HP:0040283	ORPHA:139396
215	ABCD1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:369942
215	ABCD1	HP:0001258	Spastic paraplegia	-	OMIM:300100
215	ABCD1	HP:0001257	Spasticity	HP:0040282	ORPHA:139399
215	ABCD1	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:139399
215	ABCD1	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040282	ORPHA:139399
215	ABCD1	HP:0031064	Impaired continence	HP:0040281	ORPHA:139399
215	ABCD1	HP:0007340	Lower limb muscle weakness	-	OMIM:300100
215	ABCD1	HP:0002540	Inability to walk	HP:0040284	ORPHA:139396
215	ABCD1	HP:0002518	Abnormal periventricular white matter morphology	HP:0040282	ORPHA:139396
215	ABCD1	HP:0033643	Increased circulating very long-chain fatty acid concentration	HP:0040282	ORPHA:369942
215	ABCD1	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:300100
215	ABCD1	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:369942
215	ABCD1	HP:0001396	Cholestasis	HP:0040281	ORPHA:369942
215	ABCD1	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:139399
215	ABCD1	HP:0000020	Urinary incontinence	-	OMIM:300100
215	ABCD1	HP:0001350	Slurred speech	-	OMIM:300100
215	ABCD1	HP:0000016	Urinary retention	HP:0040283	ORPHA:139399
215	ABCD1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:139399
215	ABCD1	HP:0000026	Male hypogonadism	HP:0040283	ORPHA:139396
215	ABCD1	HP:0001332	Dystonia	HP:0040283	ORPHA:369942
215	ABCD1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:139396
215	ABCD1	HP:0000012	Urinary urgency	HP:0040283	ORPHA:139399
215	ABCD1	HP:0001310	Dysmetria	HP:0040283	ORPHA:139396
215	ABCD1	HP:0002607	Bowel incontinence	HP:0040282	ORPHA:139399
215	ABCD1	HP:0002607	Bowel incontinence	-	OMIM:300100
215	ABCD1	HP:0000135	Hypogonadism	-	OMIM:300100
215	ABCD1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:139396
215	ABCD1	HP:0008969	Leg muscle stiffness	HP:0040282	ORPHA:139399
215	ABCD1	HP:0001419	X-linked recessive inheritance	-	OMIM:300100
215	ABCD1	HP:0002019	Constipation	HP:0040281	ORPHA:388
215	ABCD1	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:388
215	ABCD1	HP:0040307	Male sexual dysfunction	HP:0040282	ORPHA:139399
215	ABCD1	HP:0002027	Abdominal pain	HP:0040281	ORPHA:388
215	ABCD1	HP:0002014	Diarrhea	HP:0040283	ORPHA:388
215	ABCD1	HP:0002015	Dysphagia	HP:0040283	ORPHA:139396
215	ABCD1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:139399
215	ABCD1	HP:0002064	Spastic gait	HP:0040282	ORPHA:139399
215	ABCD1	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:139396
215	ABCD1	HP:0002078	Truncal ataxia	-	OMIM:300100
215	ABCD1	HP:0002070	Limb ataxia	-	OMIM:300100
215	ABCD1	HP:0100502	Decreased circulating vitamin B12 concentration	HP:0040283	ORPHA:139399
215	ABCD1	HP:0011749	Adrenocorticotropic hormone excess	HP:0040282	ORPHA:139399
215	ABCD1	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:139396
215	ABCD1	HP:0008163	Decreased circulating cortisol level	HP:0040281	ORPHA:139396
215	ABCD1	HP:0008167	Very long chain fatty acid accumulation	HP:0040282	ORPHA:139399
215	ABCD1	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:139396
215	ABCD1	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:139396
215	ABCD1	HP:0002143	Abnormal spinal cord morphology	HP:0040281	ORPHA:139399
215	ABCD1	HP:0002143	Abnormal spinal cord morphology	HP:0040282	ORPHA:139396
215	ABCD1	HP:0003487	Babinski sign	HP:0040282	ORPHA:139399
215	ABCD1	HP:0003455	Elevated circulating long chain fatty acid concentration	-	OMIM:300100
215	ABCD1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:369942
215	ABCD1	HP:0003418	Back pain	HP:0040283	ORPHA:139399
215	ABCD1	HP:6000224	Delayed passage of meconium	HP:0040282	ORPHA:388
215	ABCD1	HP:0002186	Apraxia	HP:0040283	ORPHA:139396
215	ABCD1	HP:0002180	Neurodegeneration	-	OMIM:300100
215	ABCD1	HP:0002196	Myelopathy	HP:0040281	ORPHA:139396
215	ABCD1	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:139396
215	ABCD1	HP:0010527	Astereognosis	HP:0040283	ORPHA:139396
215	ABCD1	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:139399
215	ABCD1	HP:0008207	Primary adrenal insufficiency	HP:0040281	ORPHA:139396
215	ABCD1	HP:0008207	Primary adrenal insufficiency	-	OMIM:300100
215	ABCD1	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:388
215	ABCD1	HP:0002213	Fine hair	HP:0040282	ORPHA:139399
215	ABCD1	HP:0002283	Global brain atrophy	HP:0040282	ORPHA:139396
215	ABCD1	HP:0002292	Frontal balding	HP:0040283	ORPHA:139399
215	ABCD1	HP:0007034	Generalized hyperreflexia	HP:0040283	ORPHA:139396
215	ABCD1	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:300100
215	ABCD1	HP:0007006	Dorsal column degeneration	HP:0040282	ORPHA:139399
215	ABCD1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:388
215	ABCD1	HP:0002385	Paraparesis	-	OMIM:300100
215	ABCD1	HP:0002371	Loss of speech	-	OMIM:300100
215	ABCD1	HP:0003676	Progressive	-	OMIM:300100
215	ABCD1	HP:0002354	Memory impairment	HP:0040283	ORPHA:139399
215	ABCD1	HP:0002354	Memory impairment	HP:0040283	ORPHA:139396
215	ABCD1	HP:0001000	Abnormality of skin pigmentation	HP:0040282	ORPHA:139399
215	ABCD1	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:139399
215	ABCD1	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:139396
215	ABCD1	HP:0100639	Erectile dysfunction	HP:0040282	ORPHA:139399
215	ABCD1	HP:0007162	Diffuse demyelination of the cerebral white matter	HP:0040281	ORPHA:139396
215	ABCD1	HP:0010794	Impaired visuospatial constructive cognition	HP:0040283	ORPHA:139396
215	ABCD1	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:139396
215	ABCD1	HP:0002311	Incoordination	-	OMIM:300100
215	ABCD1	HP:0007199	Progressive spastic paraparesis	HP:0040281	ORPHA:139399
215	ABCD1	HP:0034754	Bilious emesis	HP:0040282	ORPHA:388
215	ABCD1	HP:0031845	Abnormal libido	HP:0040282	ORPHA:139399
215	ABCD1	HP:0006827	Atrophy of the spinal cord	HP:0040282	ORPHA:139399
215	ABCD1	HP:0000618	Blindness	HP:0040284	ORPHA:139396
215	ABCD1	HP:0000618	Blindness	-	OMIM:300100
215	ABCD1	HP:0009053	Distal lower limb muscle weakness	HP:0040281	ORPHA:139399
215	ABCD1	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:139396
215	ABCD1	HP:0004322	Short stature	HP:0040283	ORPHA:388
215	ABCD1	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:139399
215	ABCD1	HP:0004302	Functional motor deficit	HP:0040282	ORPHA:139396
215	ABCD1	HP:0006938	Impaired vibration sensation at ankles	-	OMIM:300100
215	ABCD1	HP:0031993	Hoffmann sign	HP:0040283	ORPHA:139396
215	ABCD1	HP:0003089	Hamstring contractures	HP:0040283	ORPHA:139396
215	ABCD1	HP:0000802	Impotence	-	OMIM:300100
215	ABCD1	HP:0004387	Enterocolitis	HP:0040283	ORPHA:388
215	ABCD1	HP:0004359	Abnormal circulating fatty-acid concentration	HP:0040281	ORPHA:139399
215	ABCD1	HP:0004359	Abnormal circulating fatty-acid concentration	HP:0040282	ORPHA:139396
215	ABCD1	HP:0000752	Hyperactivity	HP:0040283	ORPHA:139396
215	ABCD1	HP:0000764	Peripheral axonal degeneration	HP:0040281	ORPHA:139399
215	ABCD1	HP:0000736	Short attention span	HP:0040283	ORPHA:139396
215	ABCD1	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040281	ORPHA:388
215	ABCD1	HP:0000726	Dementia	-	OMIM:300100
215	ABCD1	HP:0000709	Psychosis	-	OMIM:300100
215	ABCD1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:139399
215	ABCD1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:139396
215	ABCD1	HP:0000708	Atypical behavior	-	OMIM:300100
215	ABCD1	HP:0011448	Ankle clonus	HP:0040283	ORPHA:139396
215	ABCD1	HP:0003196	Short nose	HP:0040283	ORPHA:369942
215	ABCD1	HP:0000835	Adrenal hypoplasia	HP:0040283	ORPHA:369942
215	ABCD1	HP:0000849	Adrenocortical abnormality	HP:0040282	ORPHA:139399
215	ABCD1	HP:0000846	Adrenal insufficiency	HP:0040283	ORPHA:139399
215	ABCD1	HP:0010284	Intra-oral hyperpigmentation	HP:0040282	ORPHA:139399
215	ABCD1	HP:0040078	Axonal degeneration	HP:0040281	ORPHA:139399
215	ABCD1	HP:0003270	Abdominal distention	HP:0040282	ORPHA:388
215	ABCD1	HP:0045084	Limb myoclonus	HP:0040283	ORPHA:139396
215	ABCD1	HP:0000953	Hyperpigmentation of the skin	-	OMIM:300100
215	ABCD1	HP:0100291	Delayed somatosensory central conduction time	HP:0040282	ORPHA:139399
215	ABCD1	HP:0001596	Alopecia	-	OMIM:300100
215	ABCD1	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:388
215	ABCD1	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:388
215	ABCD1	HP:0030014	Female sexual dysfunction	HP:0040282	ORPHA:139399
215	ABCD1	HP:0031358	Vegetative state	HP:0040284	ORPHA:139396
215	ABCD1	HP:0031369	Colon perforation	HP:0040283	ORPHA:388
215	ABCD1	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040282	ORPHA:139399
215	ABCD1	HP:0002839	Urinary bladder sphincter dysfunction	-	OMIM:300100
215	ABCD1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:369942
215	ABCD1	HP:0001510	Growth delay	HP:0040283	ORPHA:388
215	ABCD1	HP:0012378	Fatigue	HP:0040282	ORPHA:139399
215	ABCD1	HP:0005214	Intestinal obstruction	HP:0040281	ORPHA:388
215	ABCD1	HP:0030177	Abnormality of peripheral nervous system electrophysiology	HP:0040281	ORPHA:139399
215	ABCD1	HP:0002936	Distal sensory impairment	HP:0040281	ORPHA:139399
215	ABCD1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:369942
215	ABCD1	HP:0000365	Hearing impairment	-	OMIM:300100
215	ABCD1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:139396
215	ABCD1	HP:0000347	Micrognathia	HP:0040283	ORPHA:369942
215	ABCD1	HP:0000317	Facial myokymia	HP:0040283	ORPHA:139396
215	ABCD1	HP:0030151	Cholangitis	HP:0040282	ORPHA:369942
215	ABCD1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:369942
215	ABCD1	HP:0000486	Strabismus	HP:0040283	ORPHA:369942
215	ABCD1	HP:0030222	Visual agnosia	HP:0040283	ORPHA:139396
215	ABCD1	HP:0012501	Abnormal brainstem white matter morphology	HP:0040282	ORPHA:139396
215	ABCD1	HP:0000518	Cataract	HP:0040283	ORPHA:369942
215	ABCD1	HP:0001824	Weight loss	HP:0040282	ORPHA:388
215	ABCD1	HP:0000572	Visual loss	-	OMIM:300100
215	ABCD1	HP:0012534	Dysesthesia	HP:0040283	ORPHA:139399
217	ALDH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:610251
217	ALDH2	HP:0003533	Reduced acetaldehyde dehydrogenase level	-	OMIM:610251
217	ALDH2	HP:0001033	Facial flushing after alcohol intake	-	OMIM:610251
220	ALDH1A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615113
220	ALDH1A3	HP:0003577	Congenital onset	6/6	OMIM:615113
220	ALDH1A3	HP:0008499	High hypermetropia	HP:0040281	ORPHA:35612
220	ALDH1A3	HP:0000610	Abnormal choroid morphology	HP:0040281	ORPHA:35612
220	ALDH1A3	HP:0000621	Entropion	2/3	OMIM:615113
220	ALDH1A3	HP:0000609	Optic nerve hypoplasia	3/6	OMIM:615113
220	ALDH1A3	HP:0012745	Short palpebral fissure	2/3	OMIM:615113
220	ALDH1A3	HP:0011478	True anophthalmia	1/3	OMIM:615113
220	ALDH1A3	HP:0034311	Hypoplastic optic chiasm	3/6	OMIM:615113
220	ALDH1A3	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:35612
220	ALDH1A3	HP:0000486	Strabismus	HP:0040281	ORPHA:35612
220	ALDH1A3	HP:0000480	Retinal coloboma	1/3	OMIM:615113
220	ALDH1A3	HP:0000528	Anophthalmia	4/6	OMIM:615113
220	ALDH1A3	HP:0000501	Glaucoma	HP:0040281	ORPHA:35612
220	ALDH1A3	HP:0000568	Microphthalmia	3/6	OMIM:615113
220	ALDH1A3	HP:0000568	Microphthalmia	HP:0040281	ORPHA:35612
220	ALDH1A3	HP:0000541	Retinal detachment	1/3	OMIM:615113
224	ALDH3A2	HP:0007305	CNS demyelination	-	OMIM:270200
224	ALDH3A2	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:816
224	ALDH3A2	HP:0001250	Seizure	HP:0040282	ORPHA:816
224	ALDH3A2	HP:0001250	Seizure	-	OMIM:270200
224	ALDH3A2	HP:0001252	Hypotonia	HP:0040283	ORPHA:816
224	ALDH3A2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:816
224	ALDH3A2	HP:0001249	Intellectual disability	3/3	OMIM:270200
224	ALDH3A2	HP:0001264	Spastic diplegia	HP:0040281	ORPHA:816
224	ALDH3A2	HP:0001260	Dysarthria	HP:0040282	ORPHA:816
224	ALDH3A2	HP:0001257	Spasticity	12/12	OMIM:270200
224	ALDH3A2	HP:0001257	Spasticity	HP:0040281	ORPHA:816
224	ALDH3A2	HP:0007440	Generalized hyperpigmentation	HP:0040282	ORPHA:816
224	ALDH3A2	HP:6000720	Reduced tissue fatty aldehyde dehydrogenase activity	7/7	OMIM:270200
224	ALDH3A2	HP:0001371	Flexion contracture	6/6	OMIM:270200
224	ALDH3A2	HP:0001387	Joint stiffness	HP:0040283	ORPHA:816
224	ALDH3A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:270200
224	ALDH3A2	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:816
224	ALDH3A2	HP:0002650	Scoliosis	HP:0040283	ORPHA:816
224	ALDH3A2	HP:0007663	Reduced visual acuity	19/19	OMIM:270200
224	ALDH3A2	HP:0006297	Enamel hypoplasia	-	OMIM:270200
224	ALDH3A2	HP:0100533	Inflammatory abnormality of the eye	HP:0040282	ORPHA:816
224	ALDH3A2	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:816
224	ALDH3A2	HP:0003577	Congenital onset	51/51	OMIM:270200
224	ALDH3A2	HP:0032028	Macular dots	20/21	OMIM:270200
224	ALDH3A2	HP:0001025	Urticaria	HP:0040283	ORPHA:816
224	ALDH3A2	HP:0002313	Spastic paraparesis	6/6	OMIM:270200
224	ALDH3A2	HP:0200020	Corneal erosion	HP:0040282	ORPHA:816
224	ALDH3A2	HP:0010783	Erythema	HP:0040281	ORPHA:816
224	ALDH3A2	HP:0030501	Macular crystals	9/9	OMIM:270200
224	ALDH3A2	HP:0000613	Photophobia	HP:0040282	ORPHA:816
224	ALDH3A2	HP:0000613	Photophobia	22/24	OMIM:270200
224	ALDH3A2	HP:0000608	Macular degeneration	HP:0040282	ORPHA:816
224	ALDH3A2	HP:0000608	Macular degeneration	-	OMIM:270200
224	ALDH3A2	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:816
224	ALDH3A2	HP:0004322	Short stature	HP:0040283	ORPHA:816
224	ALDH3A2	HP:0004322	Short stature	-	OMIM:270200
224	ALDH3A2	HP:0000958	Dry skin	HP:0040281	ORPHA:816
224	ALDH3A2	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:816
224	ALDH3A2	HP:0008064	Ichthyosis	HP:0040281	ORPHA:816
224	ALDH3A2	HP:0008064	Ichthyosis	36/36	OMIM:270200
224	ALDH3A2	HP:0007722	Retinal pigment epithelial atrophy	5/9	OMIM:270200
224	ALDH3A2	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:816
224	ALDH3A2	HP:0001595	Abnormal hair morphology	0/36	OMIM:270200
224	ALDH3A2	HP:0001597	Abnormal nail morphology	0/36	OMIM:270200
224	ALDH3A2	HP:0007727	Opacification of the corneal epithelium	-	OMIM:270200
224	ALDH3A2	HP:0002808	Kyphosis	HP:0040281	ORPHA:816
224	ALDH3A2	HP:0000252	Microcephaly	HP:0040283	ORPHA:816
224	ALDH3A2	HP:0002942	Thoracic kyphosis	-	OMIM:270200
224	ALDH3A2	HP:0030329	Retinal thinning	-	OMIM:270200
224	ALDH3A2	HP:0000483	Astigmatism	10/15	OMIM:270200
224	ALDH3A2	HP:0000488	Retinopathy	HP:0040282	ORPHA:816
224	ALDH3A2	HP:0031717	Alternating exotropia	2/15	OMIM:270200
224	ALDH3A2	HP:0000551	Color vision defect	3/6	OMIM:270200
224	ALDH3A2	HP:0000545	Myopia	HP:0040282	ORPHA:816
226	ALDOA	HP:6000555	Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity	1/1	OMIM:611881
226	ALDOA	HP:0003756	Skeletal myopathy	HP:0040282	ORPHA:57
226	ALDOA	HP:0001270	Motor delay	HP:0040283	ORPHA:57
226	ALDOA	HP:0001252	Hypotonia	1/1	OMIM:611881
226	ALDOA	HP:0001249	Intellectual disability	HP:0040283	ORPHA:57
226	ALDOA	HP:0001249	Intellectual disability	HP:0040283	OMIM:611881
226	ALDOA	HP:0001328	Specific learning disability	HP:0040283	ORPHA:57
226	ALDOA	HP:0001324	Muscle weakness	1/1	OMIM:611881
226	ALDOA	HP:0001324	Muscle weakness	HP:0040282	ORPHA:57
226	ALDOA	HP:0000007	Autosomal recessive inheritance	-	OMIM:611881
226	ALDOA	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:611881
226	ALDOA	HP:0003326	Myalgia	HP:0040282	ORPHA:57
226	ALDOA	HP:0002153	Hyperkalemia	HP:0040283	ORPHA:57
226	ALDOA	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:57
226	ALDOA	HP:0002162	Low posterior hairline	-	OMIM:611881
226	ALDOA	HP:0003593	Infantile onset	1/1	OMIM:611881
226	ALDOA	HP:0002240	Hepatomegaly	1/1	OMIM:611881
226	ALDOA	HP:0003555	Muscle fiber splitting	1/1	OMIM:611881
226	ALDOA	HP:0003558	Viral infection-induced rhabdomyolysis	HP:0040282	ORPHA:57
226	ALDOA	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:611881
226	ALDOA	HP:0008331	Elevated creatine kinase after exercise	HP:0040282	ORPHA:57
226	ALDOA	HP:0001081	Cholelithiasis	-	OMIM:611881
226	ALDOA	HP:0001082	Cholecystitis	-	OMIM:611881
226	ALDOA	HP:0003641	Hemoglobinuria	1/1	OMIM:611881
226	ALDOA	HP:0020181	Reduced haptoglobin level	1/1	OMIM:611881
226	ALDOA	HP:0001945	Fever	HP:0040281	ORPHA:57
226	ALDOA	HP:0001930	Nonspherocytic hemolytic anemia	1/1	OMIM:611881
226	ALDOA	HP:0001903	Anemia	1/1	OMIM:611881
226	ALDOA	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:57
226	ALDOA	HP:0009045	Exercise-induced rhabdomyolysis	HP:0040282	ORPHA:57
226	ALDOA	HP:0004322	Short stature	-	OMIM:611881
226	ALDOA	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:611881
226	ALDOA	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:57
226	ALDOA	HP:0003198	Myopathy	HP:0040283	OMIM:611881
226	ALDOA	HP:0003199	Decreased muscle mass	HP:0040283	ORPHA:57
226	ALDOA	HP:0000823	Delayed puberty	-	OMIM:611881
226	ALDOA	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:611881
226	ALDOA	HP:0000952	Jaundice	1/1	OMIM:611881
226	ALDOA	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:57
226	ALDOA	HP:0011675	Arrhythmia	HP:0040283	ORPHA:57
226	ALDOA	HP:0000286	Epicanthus	-	OMIM:611881
226	ALDOA	HP:0001510	Growth delay	HP:0040283	ORPHA:57
226	ALDOA	HP:0002913	Myoglobinuria	HP:0040283	ORPHA:57
226	ALDOA	HP:0002904	Hyperbilirubinemia	1/1	OMIM:611881
226	ALDOA	HP:0000470	Short neck	-	OMIM:611881
226	ALDOA	HP:0001744	Splenomegaly	1/1	OMIM:611881
226	ALDOA	HP:0000508	Ptosis	-	OMIM:611881
226	ALDOA	HP:0012545	Reduced circulating aldolase concentration	HP:0040281	ORPHA:57
226	ALDOA	HP:0001895	Normochromic anemia	-	OMIM:611881
226	ALDOA	HP:0001897	Normocytic anemia	-	OMIM:611881
226	ALDOA	HP:0001878	Hemolytic anemia	HP:0040282	ORPHA:57
229	ALDOB	HP:0034830	Reduced hepatic fructose-1,6-phosphate aldolase activity	-	OMIM:229600
229	ALDOB	HP:0001254	Lethargy	-	OMIM:229600
229	ALDOB	HP:0001254	Lethargy	HP:0040284	ORPHA:469
229	ALDOB	HP:0001250	Seizure	-	OMIM:229600
229	ALDOB	HP:0001250	Seizure	HP:0040284	ORPHA:469
229	ALDOB	HP:0001249	Intellectual disability	-	OMIM:229600
229	ALDOB	HP:0001259	Coma	-	OMIM:229600
229	ALDOB	HP:0001259	Coma	HP:0040284	ORPHA:469
229	ALDOB	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:469
229	ALDOB	HP:0001397	Hepatic steatosis	-	OMIM:229600
229	ALDOB	HP:0001394	Cirrhosis	-	OMIM:229600
229	ALDOB	HP:0012051	Reactive hypoglycemia	HP:0040283	ORPHA:469
229	ALDOB	HP:0000007	Autosomal recessive inheritance	-	OMIM:229600
229	ALDOB	HP:0000114	Proximal tubulopathy	-	OMIM:229600
229	ALDOB	HP:0002018	Nausea	-	OMIM:229600
229	ALDOB	HP:0002018	Nausea	HP:0040282	ORPHA:469
229	ALDOB	HP:0002019	Constipation	HP:0040283	ORPHA:469
229	ALDOB	HP:0002027	Abdominal pain	-	OMIM:229600
229	ALDOB	HP:0002027	Abdominal pain	HP:0040281	ORPHA:469
229	ALDOB	HP:0002014	Diarrhea	HP:0040282	ORPHA:469
229	ALDOB	HP:0002013	Vomiting	-	OMIM:229600
229	ALDOB	HP:0002013	Vomiting	HP:0040283	ORPHA:469
229	ALDOB	HP:0005973	Fructose intolerance	-	OMIM:229600
229	ALDOB	HP:0002049	Proximal renal tubular acidosis	-	OMIM:229600
229	ALDOB	HP:0002148	Hypophosphatemia	-	OMIM:229600
229	ALDOB	HP:0002148	Hypophosphatemia	HP:0040283	ORPHA:469
229	ALDOB	HP:0002149	Hyperuricemia	-	OMIM:229600
229	ALDOB	HP:0002149	Hyperuricemia	HP:0040283	ORPHA:469
229	ALDOB	HP:0008273	Transient aminoaciduria	-	OMIM:229600
229	ALDOB	HP:0002240	Hepatomegaly	-	OMIM:229600
229	ALDOB	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:469
229	ALDOB	HP:0002239	Gastrointestinal hemorrhage	-	OMIM:229600
229	ALDOB	HP:0001069	Episodic hyperhidrosis	HP:0040283	ORPHA:469
229	ALDOB	HP:0003646	Bicarbonaturia	-	OMIM:229600
229	ALDOB	HP:0100626	Chronic hepatic failure	HP:0040283	ORPHA:469
229	ALDOB	HP:0012622	Chronic kidney disease	HP:0040283	ORPHA:469
229	ALDOB	HP:0001943	Hypoglycemia	-	OMIM:229600
229	ALDOB	HP:0001942	Metabolic acidosis	-	OMIM:229600
229	ALDOB	HP:0001942	Metabolic acidosis	HP:0040283	ORPHA:469
229	ALDOB	HP:0003076	Glycosuria	-	OMIM:229600
229	ALDOB	HP:0004395	Malnutrition	-	OMIM:229600
229	ALDOB	HP:0003109	Hyperphosphaturia	-	OMIM:229600
229	ALDOB	HP:0003149	Hyperuricosuria	-	OMIM:229600
229	ALDOB	HP:0003128	Lactic acidosis	-	OMIM:229600
229	ALDOB	HP:0003270	Abdominal distention	HP:0040283	ORPHA:469
229	ALDOB	HP:0003256	Abnormality of the coagulation cascade	HP:0040283	ORPHA:469
229	ALDOB	HP:0000952	Jaundice	-	OMIM:229600
229	ALDOB	HP:0000952	Jaundice	HP:0040283	ORPHA:469
229	ALDOB	HP:0001508	Failure to thrive	-	OMIM:229600
229	ALDOB	HP:0001510	Growth delay	HP:0040282	ORPHA:469
229	ALDOB	HP:0002918	Hypermagnesemia	HP:0040283	ORPHA:469
229	ALDOB	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:229600
229	ALDOB	HP:0002904	Hyperbilirubinemia	-	OMIM:229600
229	ALDOB	HP:0000518	Cataract	HP:0040284	ORPHA:469
229	ALDOB	HP:0012545	Reduced circulating aldolase concentration	HP:0040281	ORPHA:469
238	ALK	HP:0003764	Nevus	HP:0040281	ORPHA:626
238	ALK	HP:0001250	Seizure	HP:0040283	ORPHA:626
238	ALK	HP:0001251	Ataxia	HP:0040284	ORPHA:635
238	ALK	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:626
238	ALK	HP:0012056	Cutaneous melanoma	HP:0040283	ORPHA:626
238	ALK	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:626
238	ALK	HP:0001336	Myoclonus	HP:0040284	ORPHA:635
238	ALK	HP:0002653	Bone pain	HP:0040283	ORPHA:635
238	ALK	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:635
238	ALK	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:626
238	ALK	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:635
238	ALK	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:635
238	ALK	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:635
238	ALK	HP:0002028	Chronic diarrhea	HP:0040282	ORPHA:635
238	ALK	HP:0003334	Elevated circulating catecholamine level	HP:0040282	ORPHA:635
238	ALK	HP:0002098	Respiratory distress	HP:0040283	ORPHA:635
238	ALK	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:626
238	ALK	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:635
238	ALK	HP:0010543	Opsoclonus	HP:0040284	ORPHA:635
238	ALK	HP:0002277	Horner syndrome	HP:0040283	ORPHA:635
238	ALK	HP:0011976	Elevated urinary catecholamine level	HP:0040281	ORPHA:635
238	ALK	HP:0011977	Elevated urinary homovanillic acid	HP:0040283	ORPHA:635
238	ALK	HP:0011978	Elevated urinary vanillylmandelic acid	HP:0040283	ORPHA:635
238	ALK	HP:0001058	Poor wound healing	HP:0040282	ORPHA:626
238	ALK	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:626
238	ALK	HP:0001017	Anemic pallor	HP:0040283	ORPHA:635
238	ALK	HP:0002315	Headache	HP:0040283	ORPHA:626
238	ALK	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:626
238	ALK	HP:0004912	Hypophosphatemic rickets	HP:0040284	ORPHA:626
238	ALK	HP:0001945	Fever	HP:0040282	ORPHA:635
238	ALK	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:635
238	ALK	HP:0001903	Anemia	HP:0040282	ORPHA:635
238	ALK	HP:0031955	Antalgic gait	HP:0040283	ORPHA:635
238	ALK	HP:0005600	Congenital giant melanocytic nevus	HP:0040281	ORPHA:626
238	ALK	HP:0004375	Neoplasm of the nervous system	HP:0040281	ORPHA:635
238	ALK	HP:0003006	Neuroblastoma	HP:0040281	ORPHA:635
238	ALK	HP:0000737	Irritability	HP:0040283	ORPHA:635
238	ALK	HP:0000708	Atypical behavior	HP:0040283	ORPHA:626
238	ALK	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:626
238	ALK	HP:0000822	Hypertension	HP:0040284	ORPHA:635
238	ALK	HP:0003270	Abdominal distention	HP:0040282	ORPHA:635
238	ALK	HP:0003281	Increased circulating ferritin concentration	HP:0040283	ORPHA:635
238	ALK	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:626
238	ALK	HP:0010314	Premature thelarche	HP:0040284	ORPHA:626
238	ALK	HP:0000989	Pruritus	HP:0040283	ORPHA:626
238	ALK	HP:0000958	Dry skin	HP:0040282	ORPHA:626
238	ALK	HP:0000970	Anhidrosis	HP:0040282	ORPHA:626
238	ALK	HP:0025553	Periorbital ecchymosis with tarsal plate sparing	HP:0040284	ORPHA:635
238	ALK	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:626
238	ALK	HP:0031500	Abdominal mass	HP:0040282	ORPHA:635
238	ALK	HP:0012378	Fatigue	HP:0040282	ORPHA:635
238	ALK	HP:0000520	Proptosis	HP:0040283	ORPHA:635
238	ALK	HP:0001824	Weight loss	HP:0040282	ORPHA:635
238	ALK	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:635
238	ALK	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:635
240	ALOX5	HP:0000006	Autosomal dominant inheritance	-	OMIM:600807
240	ALOX5	HP:0001426	Non-Mendelian inheritance	-	OMIM:600807
240	ALOX5	HP:0002099	Asthma	-	OMIM:600807
240	ALOX5	HP:4000007	Bronchoconstriction	-	OMIM:600807
240	ALOX5	HP:0032933	Airway hyperresponsiveness	-	OMIM:600807
241	ALOX5AP	HP:0001297	Stroke	-	OMIM:601367
241	ALOX5AP	HP:0001426	Non-Mendelian inheritance	-	OMIM:601367
241	ALOX5AP	HP:0003581	Adult onset	-	OMIM:601367
242	ALOX12B	HP:0025114	Hypergranulosis	-	OMIM:242100
242	ALOX12B	HP:0100806	Sepsis	HP:0040283	ORPHA:313
242	ALOX12B	HP:0007431	Congenital ichthyosiform erythroderma	-	OMIM:242100
242	ALOX12B	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:313
242	ALOX12B	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:313
242	ALOX12B	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:281122
242	ALOX12B	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	2/2	OMIM:242100
242	ALOX12B	HP:0000007	Autosomal recessive inheritance	-	OMIM:242100
242	ALOX12B	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:313
242	ALOX12B	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:313
242	ALOX12B	HP:0003470	Paralysis	-	OMIM:242100
242	ALOX12B	HP:0033252	Palmar hyperlinearity	2/2	OMIM:242100
242	ALOX12B	HP:0003577	Congenital onset	10/10	OMIM:242100
242	ALOX12B	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:313
242	ALOX12B	HP:0100758	Gangrene	HP:0040283	ORPHA:313
242	ALOX12B	HP:0001019	Erythroderma	HP:0040281	ORPHA:79394
242	ALOX12B	HP:0001019	Erythroderma	HP:0040281	ORPHA:313
242	ALOX12B	HP:0200020	Corneal erosion	HP:0040282	ORPHA:79394
242	ALOX12B	HP:0025092	Epidermal acanthosis	-	OMIM:242100
242	ALOX12B	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:313
242	ALOX12B	HP:0010783	Erythema	HP:0040283	OMIM:242100
242	ALOX12B	HP:0006889	Intellectual disability, borderline	1/8	OMIM:242100
242	ALOX12B	HP:0001944	Dehydration	HP:0040283	ORPHA:313
242	ALOX12B	HP:0000656	Ectropion	7/8	OMIM:242100
242	ALOX12B	HP:0000656	Ectropion	HP:0040281	ORPHA:79394
242	ALOX12B	HP:0000656	Ectropion	HP:0040281	ORPHA:313
242	ALOX12B	HP:0004322	Short stature	HP:0040283	ORPHA:313
242	ALOX12B	HP:0004322	Short stature	HP:0040283	ORPHA:79394
242	ALOX12B	HP:0003241	External genital hypoplasia	-	OMIM:242100
242	ALOX12B	HP:0000989	Pruritus	HP:0040281	ORPHA:313
242	ALOX12B	HP:0000989	Pruritus	HP:0040281	ORPHA:79394
242	ALOX12B	HP:0000982	Palmoplantar keratoderma	6/8	OMIM:242100
242	ALOX12B	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:79394
242	ALOX12B	HP:0000958	Dry skin	HP:0040281	ORPHA:313
242	ALOX12B	HP:0000970	Anhidrosis	8/8	OMIM:242100
242	ALOX12B	HP:0000966	Hypohidrosis	HP:0040281	OMIM:242100
242	ALOX12B	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:79394
242	ALOX12B	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:313
242	ALOX12B	HP:0000962	Hyperkeratosis	-	OMIM:242100
242	ALOX12B	HP:0008070	Sparse hair	HP:0040281	ORPHA:313
242	ALOX12B	HP:0008064	Ichthyosis	HP:0040281	ORPHA:281122
242	ALOX12B	HP:0008064	Ichthyosis	HP:0040281	ORPHA:313
242	ALOX12B	HP:0008064	Ichthyosis	HP:0040281	ORPHA:79394
242	ALOX12B	HP:0009381	Short finger	HP:0040283	OMIM:242100
242	ALOX12B	HP:0001595	Abnormal hair morphology	-	OMIM:242100
242	ALOX12B	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:79394
242	ALOX12B	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:313
242	ALOX12B	HP:0001596	Alopecia	HP:0040283	OMIM:242100
242	ALOX12B	HP:0001596	Alopecia	HP:0040282	ORPHA:79394
242	ALOX12B	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:313
242	ALOX12B	HP:0000232	Everted lower lip vermilion	1/2	OMIM:242100
242	ALOX12B	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79394
242	ALOX12B	HP:0001510	Growth delay	-	OMIM:242100
242	ALOX12B	HP:0011039	Abnormal helix morphology	HP:0040282	ORPHA:313
242	ALOX12B	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:313
242	ALOX12B	HP:0000365	Hearing impairment	HP:0040282	ORPHA:79394
242	ALOX12B	HP:0000491	Keratitis	HP:0040282	ORPHA:79394
242	ALOX12B	HP:0001792	Small nail	HP:0040283	OMIM:242100
242	ALOX12B	HP:0001831	Short toe	HP:0040283	OMIM:242100
242	ALOX12B	HP:0001816	Thin nail	HP:0040283	OMIM:242100
249	ALPL	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
249	ALPL	HP:0001293	Cranial nerve compression	-	OMIM:131300
249	ALPL	HP:0001256	Intellectual disability, mild	-	OMIM:259770
249	ALPL	HP:0001250	Seizure	-	OMIM:241500
249	ALPL	HP:0001250	Seizure	-	OMIM:241510
249	ALPL	HP:0001252	Hypotonia	-	OMIM:259770
249	ALPL	HP:0001252	Hypotonia	-	OMIM:241500
249	ALPL	HP:0001252	Hypotonia	2/7	OMIM:615777
249	ALPL	HP:0001249	Intellectual disability	5/7	OMIM:615777
249	ALPL	HP:0001263	Global developmental delay	1/1	OMIM:612394
249	ALPL	HP:0001263	Global developmental delay	-	OMIM:615777
249	ALPL	HP:0002515	Waddling gait	54/102	OMIM:131300
249	ALPL	HP:0002515	Waddling gait	-	OMIM:241510
249	ALPL	HP:0003826	Stillbirth	-	OMIM:241500
249	ALPL	HP:0001382	Joint hypermobility	-	OMIM:259770
249	ALPL	HP:0001382	Joint hypermobility	-	OMIM:615777
249	ALPL	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
249	ALPL	HP:0001363	Craniosynostosis	-	OMIM:241500
249	ALPL	HP:0001363	Craniosynostosis	-	OMIM:241510
249	ALPL	HP:0002694	Sclerosis of skull base	-	OMIM:131300
249	ALPL	HP:0008897	Postnatal growth retardation	-	OMIM:615777
249	ALPL	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
249	ALPL	HP:0008873	Disproportionate short-limb short stature	-	OMIM:241500
249	ALPL	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
249	ALPL	HP:0002659	Increased susceptibility to fractures	-	OMIM:146300
249	ALPL	HP:0002659	Increased susceptibility to fractures	-	OMIM:241500
249	ALPL	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
249	ALPL	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
249	ALPL	HP:0001324	Muscle weakness	40/96	OMIM:131300
249	ALPL	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
249	ALPL	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
249	ALPL	HP:0000007	Autosomal recessive inheritance	-	OMIM:241500
249	ALPL	HP:0000007	Autosomal recessive inheritance	-	OMIM:241510
249	ALPL	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
249	ALPL	HP:0000007	Autosomal recessive inheritance	-	OMIM:146300
249	ALPL	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
249	ALPL	HP:0000006	Autosomal dominant inheritance	-	OMIM:146300
249	ALPL	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
249	ALPL	HP:0002650	Scoliosis	1/5	OMIM:259770
249	ALPL	HP:0002650	Scoliosis	1/1	OMIM:612394
249	ALPL	HP:0002650	Scoliosis	12/14	OMIM:131300
249	ALPL	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
249	ALPL	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
249	ALPL	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
249	ALPL	HP:6000873	Bowdler spurs	-	OMIM:241500
249	ALPL	HP:6000873	Bowdler spurs	1/1	OMIM:241510
249	ALPL	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
249	ALPL	HP:0000164	Abnormality of the dentition	-	OMIM:241500
249	ALPL	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
249	ALPL	HP:0000175	Cleft palate	2/7	OMIM:615777
249	ALPL	HP:0025430	High-pitched cry	-	OMIM:241500
249	ALPL	HP:0006357	Premature loss of permanent teeth	-	OMIM:146300
249	ALPL	HP:0006323	Premature loss of primary teeth	-	OMIM:241510
249	ALPL	HP:0006323	Premature loss of primary teeth	-	OMIM:146300
249	ALPL	HP:0000121	Nephrocalcinosis	-	OMIM:241500
249	ALPL	HP:0002757	Recurrent fractures	4/5	OMIM:259770
249	ALPL	HP:0002757	Recurrent fractures	-	OMIM:146300
249	ALPL	HP:0002756	Pathologic fracture	-	OMIM:146300
249	ALPL	HP:0002756	Pathologic fracture	-	OMIM:259770
249	ALPL	HP:0002756	Pathologic fracture	1/1	OMIM:612394
249	ALPL	HP:0002751	Kyphoscoliosis	-	OMIM:259770
249	ALPL	HP:0002748	Rickets	-	OMIM:146300
249	ALPL	HP:0002749	Osteomalacia	-	OMIM:146300
249	ALPL	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
249	ALPL	HP:0002019	Constipation	-	OMIM:241500
249	ALPL	HP:0002013	Vomiting	-	OMIM:241500
249	ALPL	HP:0002007	Frontal bossing	-	OMIM:241510
249	ALPL	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
249	ALPL	HP:0002039	Anorexia	-	OMIM:241500
249	ALPL	HP:0003388	Easy fatigability	36/76	OMIM:131300
249	ALPL	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
249	ALPL	HP:0004606	Unossified vertebral bodies	-	OMIM:241500
249	ALPL	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
249	ALPL	HP:0002150	Hypercalciuria	-	OMIM:241500
249	ALPL	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
249	ALPL	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
249	ALPL	HP:0002104	Apnea	-	OMIM:241500
249	ALPL	HP:0002164	Nail dysplasia	1/1	OMIM:612394
249	ALPL	HP:0003491	Elevated urine pyrophosphate	-	OMIM:241500
249	ALPL	HP:0003491	Elevated urine pyrophosphate	-	OMIM:241510
249	ALPL	HP:0002170	Intracranial hemorrhage	-	OMIM:241500
249	ALPL	HP:0010557	Overlapping fingers	1/2	OMIM:612394
249	ALPL	HP:0011864	Elevated plasma pyrophosphate	-	OMIM:241500
249	ALPL	HP:0011864	Elevated plasma pyrophosphate	-	OMIM:241510
249	ALPL	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
249	ALPL	HP:0003593	Infantile onset	1/5	OMIM:259770
249	ALPL	HP:0003577	Congenital onset	4/5	OMIM:259770
249	ALPL	HP:0002208	Coarse hair	1/1	OMIM:612394
249	ALPL	HP:0002205	Recurrent respiratory infections	-	OMIM:241500
249	ALPL	HP:0003510	Severe short stature	7/7	OMIM:615777
249	ALPL	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
249	ALPL	HP:0025019	Arterial rupture	1/1	OMIM:612394
249	ALPL	HP:0001024	Skin dimple over apex of long bone angulation	-	OMIM:241500
249	ALPL	HP:0001024	Skin dimple over apex of long bone angulation	-	OMIM:241510
249	ALPL	HP:0002315	Headache	-	OMIM:131300
249	ALPL	HP:0004976	Knee dislocation	6/7	OMIM:615777
249	ALPL	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
249	ALPL	HP:0009803	Short phalanx of finger	-	OMIM:615777
249	ALPL	HP:0001089	Iris atrophy	-	OMIM:259770
249	ALPL	HP:0009763	Limb pain	63/92	OMIM:131300
249	ALPL	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
249	ALPL	HP:0008428	Vertebral clefting	-	OMIM:241500
249	ALPL	HP:0003621	Juvenile onset	-	OMIM:131300
249	ALPL	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
249	ALPL	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
249	ALPL	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
249	ALPL	HP:6001056	Out-toeing	-	OMIM:131300
249	ALPL	HP:0000651	Diplopia	-	OMIM:131300
249	ALPL	HP:0000618	Blindness	5/5	OMIM:259770
249	ALPL	HP:0001945	Fever	-	OMIM:241500
249	ALPL	HP:0001956	Truncal obesity	2/7	OMIM:615777
249	ALPL	HP:0001903	Anemia	-	OMIM:241500
249	ALPL	HP:0001903	Anemia	HP:0040283	OMIM:131300
249	ALPL	HP:0010049	Short metacarpal	-	OMIM:615777
249	ALPL	HP:0000678	Dental crowding	-	OMIM:615777
249	ALPL	HP:0000670	Carious teeth	-	OMIM:131300
249	ALPL	HP:0000670	Carious teeth	-	OMIM:146300
249	ALPL	HP:0000670	Carious teeth	-	OMIM:241510
249	ALPL	HP:0011304	Broad thumb	2/7	OMIM:615777
249	ALPL	HP:0000668	Hypodontia	-	OMIM:615777
249	ALPL	HP:0000667	Phthisis bulbi	-	OMIM:259770
249	ALPL	HP:0000664	Synophrys	-	OMIM:615777
249	ALPL	HP:0004322	Short stature	-	OMIM:259770
249	ALPL	HP:0004322	Short stature	-	OMIM:241510
249	ALPL	HP:0003072	Hypercalcemia	-	OMIM:241500
249	ALPL	HP:0004396	Poor appetite	-	OMIM:131300
249	ALPL	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
249	ALPL	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
249	ALPL	HP:0003040	Arthropathy	-	OMIM:146300
249	ALPL	HP:0003016	Metaphyseal widening	-	OMIM:259770
249	ALPL	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
249	ALPL	HP:0003026	Short long bone	7/7	OMIM:615777
249	ALPL	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
249	ALPL	HP:0003021	Metaphyseal cupping	-	OMIM:241500
249	ALPL	HP:0000767	Pectus excavatum	2/7	OMIM:615777
249	ALPL	HP:0000768	Pectus carinatum	1/7	OMIM:615777
249	ALPL	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
249	ALPL	HP:0000737	Irritability	-	OMIM:241500
249	ALPL	HP:0000750	Delayed speech and language development	-	OMIM:615777
249	ALPL	HP:0011461	Fetal onset	7/7	OMIM:615777
249	ALPL	HP:0011461	Fetal onset	2/2	OMIM:612394
249	ALPL	HP:0000774	Narrow chest	2/7	OMIM:615777
249	ALPL	HP:0000773	Short ribs	-	OMIM:241500
249	ALPL	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
249	ALPL	HP:0003198	Myopathy	-	OMIM:241510
249	ALPL	HP:0003196	Short nose	1/1	OMIM:612394
249	ALPL	HP:0000926	Platyspondyly	-	OMIM:241500
249	ALPL	HP:0000926	Platyspondyly	-	OMIM:259770
249	ALPL	HP:0000926	Platyspondyly	1/7	OMIM:615777
249	ALPL	HP:0000926	Platyspondyly	1/1	OMIM:612394
249	ALPL	HP:0003180	Flat acetabular roof	-	OMIM:615777
249	ALPL	HP:0004482	Relative macrocephaly	-	OMIM:615777
249	ALPL	HP:0004492	Widely patent fontanelles and sutures	-	OMIM:241500
249	ALPL	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
249	ALPL	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
249	ALPL	HP:0000823	Delayed puberty	-	OMIM:131300
249	ALPL	HP:0000894	Short clavicles	-	OMIM:615777
249	ALPL	HP:0000897	Rachitic rosary	-	OMIM:241500
249	ALPL	HP:0000897	Rachitic rosary	-	OMIM:241510
249	ALPL	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
249	ALPL	HP:0003239	Phosphoethanolaminuria	59/59	OMIM:146300
249	ALPL	HP:0003239	Phosphoethanolaminuria	11/11	OMIM:241500
249	ALPL	HP:0003239	Phosphoethanolaminuria	-	OMIM:241510
249	ALPL	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
249	ALPL	HP:0003282	Decreased circulating alkaline phosphatase activity	-	OMIM:146300
249	ALPL	HP:0003282	Decreased circulating alkaline phosphatase activity	1/1	OMIM:241500
249	ALPL	HP:0003282	Decreased circulating alkaline phosphatase activity	-	OMIM:241510
249	ALPL	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
249	ALPL	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
249	ALPL	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
249	ALPL	HP:0000939	Osteoporosis	4/5	OMIM:259770
249	ALPL	HP:0000938	Osteopenia	1/5	OMIM:259770
249	ALPL	HP:0000938	Osteopenia	1/1	OMIM:612394
249	ALPL	HP:0000934	Chondrocalcinosis	-	OMIM:146300
249	ALPL	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
249	ALPL	HP:0000286	Epicanthus	1/7	OMIM:615777
249	ALPL	HP:0000280	Coarse facial features	2/7	OMIM:615777
249	ALPL	HP:0000272	Malar flattening	1/1	OMIM:612394
249	ALPL	HP:0000268	Dolichocephaly	-	OMIM:241510
249	ALPL	HP:0007773	Vitreoretinopathy	-	OMIM:259770
249	ALPL	HP:0002827	Hip dislocation	3/7	OMIM:615777
249	ALPL	HP:0002808	Kyphosis	1/5	OMIM:259770
249	ALPL	HP:0006385	Short lower limbs	-	OMIM:241500
249	ALPL	HP:0000252	Microcephaly	-	OMIM:259770
249	ALPL	HP:0000252	Microcephaly	-	OMIM:615777
249	ALPL	HP:0001552	Barrel-shaped chest	-	OMIM:259770
249	ALPL	HP:0001561	Polyhydramnios	-	OMIM:241500
249	ALPL	HP:0002857	Genu valgum	-	OMIM:131300
249	ALPL	HP:0001522	Death in infancy	-	OMIM:241500
249	ALPL	HP:0001533	Slender build	-	OMIM:131300
249	ALPL	HP:0001508	Failure to thrive	-	OMIM:241500
249	ALPL	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
249	ALPL	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
249	ALPL	HP:0007807	Optic nerve compression	-	OMIM:131300
249	ALPL	HP:0012368	Flat face	7/7	OMIM:615777
249	ALPL	HP:0012368	Flat face	1/1	OMIM:612394
249	ALPL	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
249	ALPL	HP:0007875	Congenital blindness	4/5	OMIM:259770
249	ALPL	HP:0007862	Retinal calcification	1/5	OMIM:259770
249	ALPL	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
249	ALPL	HP:0000365	Hearing impairment	10/67	OMIM:131300
249	ALPL	HP:0000369	Low-set ears	2/2	OMIM:612394
249	ALPL	HP:0000343	Long philtrum	1/7	OMIM:615777
249	ALPL	HP:0011001	Increased bone mineral density	-	OMIM:131300
249	ALPL	HP:0002982	Tibial bowing	1/5	OMIM:259770
249	ALPL	HP:0002983	Micromelia	-	OMIM:241500
249	ALPL	HP:0002979	Bowing of the legs	-	OMIM:241500
249	ALPL	HP:0002979	Bowing of the legs	-	OMIM:241510
249	ALPL	HP:0000311	Round face	2/7	OMIM:615777
249	ALPL	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
249	ALPL	HP:0001629	Ventricular septal defect	-	OMIM:259770
249	ALPL	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
249	ALPL	HP:0002970	Genu varum	-	OMIM:615777
249	ALPL	HP:0000307	Pointed chin	1/2	OMIM:612394
249	ALPL	HP:0000303	Mandibular prognathia	-	OMIM:131300
249	ALPL	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
249	ALPL	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
249	ALPL	HP:0000463	Anteverted nares	1/1	OMIM:612394
249	ALPL	HP:0000470	Short neck	1/7	OMIM:615777
249	ALPL	HP:0001769	Broad foot	HP:0040283	OMIM:615777
249	ALPL	HP:0001763	Pes planus	1/7	OMIM:615777
249	ALPL	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
249	ALPL	HP:0001760	Abnormal foot morphology	-	OMIM:146300
249	ALPL	HP:0005474	Decreased calvarial ossification	-	OMIM:241500
249	ALPL	HP:0000518	Cataract	1/5	OMIM:259770
249	ALPL	HP:0000518	Cataract	1/1	OMIM:612394
249	ALPL	HP:0001840	Metatarsus adductus	-	OMIM:615777
249	ALPL	HP:0000520	Proptosis	2/4	OMIM:131300
249	ALPL	HP:0000520	Proptosis	-	OMIM:241510
249	ALPL	HP:0000520	Proptosis	7/7	OMIM:615777
249	ALPL	HP:0000592	Blue sclerae	-	OMIM:241500
249	ALPL	HP:0000592	Blue sclerae	2/7	OMIM:615777
249	ALPL	HP:0000586	Shallow orbits	1/1	OMIM:612394
249	ALPL	HP:0000568	Microphthalmia	1/5	OMIM:259770
249	ALPL	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
249	ALPL	HP:0012514	Lower limb pain	4/4	OMIM:131300
249	ALPL	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
249	ALPL	HP:0000545	Myopia	1/1	OMIM:612394
257	ALX3	HP:0001156	Brachydactyly	-	OMIM:136760
257	ALX3	HP:0001156	Brachydactyly	HP:0040282	ORPHA:391474
257	ALX3	HP:0001162	Postaxial hand polydactyly	-	OMIM:136760
257	ALX3	HP:0008591	Congenital conductive hearing impairment	HP:0040282	ORPHA:391474
257	ALX3	HP:0003745	Sporadic	-	OMIM:136760
257	ALX3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
257	ALX3	HP:0001293	Cranial nerve compression	-	OMIM:131300
257	ALX3	HP:0025247	Dermoid cyst	HP:0040282	ORPHA:391474
257	ALX3	HP:0001274	Agenesis of corpus callosum	-	OMIM:136760
257	ALX3	HP:0001252	Hypotonia	2/7	OMIM:615777
257	ALX3	HP:0001249	Intellectual disability	-	OMIM:136760
257	ALX3	HP:0001249	Intellectual disability	5/7	OMIM:615777
257	ALX3	HP:0001263	Global developmental delay	-	OMIM:615777
257	ALX3	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040282	ORPHA:391474
257	ALX3	HP:0002515	Waddling gait	54/102	OMIM:131300
257	ALX3	HP:0001382	Joint hypermobility	-	OMIM:615777
257	ALX3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
257	ALX3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
257	ALX3	HP:0007541	Frontal cutaneous lipoma	-	OMIM:136760
257	ALX3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
257	ALX3	HP:0001324	Muscle weakness	40/96	OMIM:131300
257	ALX3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
257	ALX3	HP:0000007	Autosomal recessive inheritance	-	OMIM:136760
257	ALX3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
257	ALX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
257	ALX3	HP:0002650	Scoliosis	HP:0040282	ORPHA:391474
257	ALX3	HP:0002650	Scoliosis	12/14	OMIM:131300
257	ALX3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
257	ALX3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
257	ALX3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
257	ALX3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
257	ALX3	HP:0000161	Median cleft upper lip	-	OMIM:136760
257	ALX3	HP:0000175	Cleft palate	HP:0040282	ORPHA:391474
257	ALX3	HP:0000175	Cleft palate	2/7	OMIM:615777
257	ALX3	HP:0002738	Hypoplastic frontal sinuses	-	OMIM:136760
257	ALX3	HP:0002738	Hypoplastic frontal sinuses	HP:0040282	ORPHA:391474
257	ALX3	HP:0002000	Short columella	-	OMIM:136760
257	ALX3	HP:0011817	Basal encephalocele	HP:0040282	ORPHA:391474
257	ALX3	HP:0011803	Bifid nose	-	OMIM:136760
257	ALX3	HP:0002084	Encephalocele	HP:0040282	ORPHA:391474
257	ALX3	HP:0003388	Easy fatigability	36/76	OMIM:131300
257	ALX3	HP:0009466	Radial deviation of finger	-	OMIM:136760
257	ALX3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
257	ALX3	HP:0009473	Joint contracture of the hand	-	OMIM:136760
257	ALX3	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:391474
257	ALX3	HP:0003510	Severe short stature	7/7	OMIM:615777
257	ALX3	HP:0002315	Headache	-	OMIM:131300
257	ALX3	HP:0004976	Knee dislocation	6/7	OMIM:615777
257	ALX3	HP:0009803	Short phalanx of finger	-	OMIM:615777
257	ALX3	HP:0009763	Limb pain	63/92	OMIM:131300
257	ALX3	HP:0003621	Juvenile onset	-	OMIM:131300
257	ALX3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
257	ALX3	HP:0009099	Median cleft palate	-	OMIM:136760
257	ALX3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
257	ALX3	HP:6001056	Out-toeing	-	OMIM:131300
257	ALX3	HP:0000651	Diplopia	-	OMIM:131300
257	ALX3	HP:0000612	Iris coloboma	HP:0040282	ORPHA:391474
257	ALX3	HP:0001956	Truncal obesity	2/7	OMIM:615777
257	ALX3	HP:0001903	Anemia	HP:0040283	OMIM:131300
257	ALX3	HP:0010049	Short metacarpal	-	OMIM:615777
257	ALX3	HP:0000678	Dental crowding	-	OMIM:615777
257	ALX3	HP:0000670	Carious teeth	-	OMIM:131300
257	ALX3	HP:0011304	Broad thumb	2/7	OMIM:615777
257	ALX3	HP:0000668	Hypodontia	-	OMIM:615777
257	ALX3	HP:0000664	Synophrys	-	OMIM:615777
257	ALX3	HP:0006992	Anterior basal encephalocele	-	OMIM:136760
257	ALX3	HP:0006931	Pericallosal lipoma	-	OMIM:136760
257	ALX3	HP:0006931	Pericallosal lipoma	HP:0040282	ORPHA:391474
257	ALX3	HP:0004396	Poor appetite	-	OMIM:131300
257	ALX3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
257	ALX3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
257	ALX3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
257	ALX3	HP:0003026	Short long bone	7/7	OMIM:615777
257	ALX3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
257	ALX3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
257	ALX3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
257	ALX3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
257	ALX3	HP:0000750	Delayed speech and language development	-	OMIM:615777
257	ALX3	HP:0011461	Fetal onset	7/7	OMIM:615777
257	ALX3	HP:0000774	Narrow chest	2/7	OMIM:615777
257	ALX3	HP:0004423	Cranium bifidum occultum	-	OMIM:136760
257	ALX3	HP:0004423	Cranium bifidum occultum	HP:0040282	ORPHA:391474
257	ALX3	HP:0000926	Platyspondyly	1/7	OMIM:615777
257	ALX3	HP:0003180	Flat acetabular roof	-	OMIM:615777
257	ALX3	HP:0004482	Relative macrocephaly	-	OMIM:615777
257	ALX3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
257	ALX3	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:391474
257	ALX3	HP:0000823	Delayed puberty	-	OMIM:131300
257	ALX3	HP:0010297	Bifid tongue	HP:0040282	ORPHA:391474
257	ALX3	HP:0040019	Finger clinodactyly	HP:0040282	ORPHA:391474
257	ALX3	HP:0040075	Hypopituitarism	HP:0040283	ORPHA:391474
257	ALX3	HP:0000894	Short clavicles	-	OMIM:615777
257	ALX3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
257	ALX3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
257	ALX3	HP:0000286	Epicanthus	HP:0040282	ORPHA:391474
257	ALX3	HP:0000286	Epicanthus	-	OMIM:136760
257	ALX3	HP:0000286	Epicanthus	1/7	OMIM:615777
257	ALX3	HP:0000280	Coarse facial features	2/7	OMIM:615777
257	ALX3	HP:0002827	Hip dislocation	3/7	OMIM:615777
257	ALX3	HP:0030084	Clinodactyly	-	OMIM:136760
257	ALX3	HP:0001566	Widely-spaced maxillary central incisors	-	OMIM:136760
257	ALX3	HP:0000252	Microcephaly	-	OMIM:615777
257	ALX3	HP:0002857	Genu valgum	-	OMIM:131300
257	ALX3	HP:0001533	Slender build	-	OMIM:131300
257	ALX3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
257	ALX3	HP:0007807	Optic nerve compression	-	OMIM:131300
257	ALX3	HP:0012385	Camptodactyly	-	OMIM:136760
257	ALX3	HP:0000384	Preauricular skin tag	-	OMIM:136760
257	ALX3	HP:0000384	Preauricular skin tag	HP:0040282	ORPHA:391474
257	ALX3	HP:0012368	Flat face	7/7	OMIM:615777
257	ALX3	HP:0005258	Pectoral muscle hypoplasia/aplasia	-	OMIM:136760
257	ALX3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
257	ALX3	HP:0002938	Lumbar hyperlordosis	HP:0040282	ORPHA:391474
257	ALX3	HP:0000365	Hearing impairment	10/67	OMIM:131300
257	ALX3	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:391474
257	ALX3	HP:0000369	Low-set ears	-	OMIM:136760
257	ALX3	HP:0000343	Long philtrum	1/7	OMIM:615777
257	ALX3	HP:0011001	Increased bone mineral density	-	OMIM:131300
257	ALX3	HP:0000349	Widow's peak	-	OMIM:136760
257	ALX3	HP:0000349	Widow's peak	HP:0040282	ORPHA:391474
257	ALX3	HP:0000316	Hypertelorism	HP:0040282	ORPHA:391474
257	ALX3	HP:0000316	Hypertelorism	-	OMIM:136760
257	ALX3	HP:0000311	Round face	2/7	OMIM:615777
257	ALX3	HP:0000327	Hypoplasia of the maxilla	-	OMIM:136760
257	ALX3	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:391474
257	ALX3	HP:0002970	Genu varum	-	OMIM:615777
257	ALX3	HP:0001636	Tetralogy of Fallot	-	OMIM:136760
257	ALX3	HP:0000303	Mandibular prognathia	-	OMIM:131300
257	ALX3	HP:0000405	Conductive hearing impairment	-	OMIM:136760
257	ALX3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
257	ALX3	HP:0000486	Strabismus	HP:0040282	ORPHA:391474
257	ALX3	HP:0000455	Broad nasal tip	-	OMIM:136760
257	ALX3	HP:0000456	Bifid nasal tip	-	OMIM:136760
257	ALX3	HP:0000470	Short neck	1/7	OMIM:615777
257	ALX3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
257	ALX3	HP:0001763	Pes planus	1/7	OMIM:615777
257	ALX3	HP:0000431	Wide nasal bridge	20/20	OMIM:136760
257	ALX3	HP:0004112	Midline nasal groove	HP:0040282	ORPHA:391474
257	ALX3	HP:0000518	Cataract	-	OMIM:136760
257	ALX3	HP:0000518	Cataract	HP:0040282	ORPHA:391474
257	ALX3	HP:0001840	Metatarsus adductus	-	OMIM:615777
257	ALX3	HP:0000520	Proptosis	2/4	OMIM:131300
257	ALX3	HP:0000520	Proptosis	7/7	OMIM:615777
257	ALX3	HP:0000508	Ptosis	HP:0040282	ORPHA:391474
257	ALX3	HP:0000508	Ptosis	-	OMIM:136760
257	ALX3	HP:0000592	Blue sclerae	2/7	OMIM:615777
257	ALX3	HP:0000589	Coloboma	-	OMIM:136760
257	ALX3	HP:0000568	Microphthalmia	-	OMIM:136760
257	ALX3	HP:0000568	Microphthalmia	HP:0040282	ORPHA:391474
257	ALX3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
257	ALX3	HP:0012514	Lower limb pain	4/4	OMIM:131300
258	AMBN	HP:0001256	Intellectual disability, mild	-	OMIM:259770
258	AMBN	HP:0001252	Hypotonia	-	OMIM:259770
258	AMBN	HP:0001263	Global developmental delay	1/1	OMIM:612394
258	AMBN	HP:0001382	Joint hypermobility	-	OMIM:259770
258	AMBN	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
258	AMBN	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
258	AMBN	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
258	AMBN	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
258	AMBN	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
258	AMBN	HP:0000007	Autosomal recessive inheritance	-	OMIM:616270
258	AMBN	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
258	AMBN	HP:0002650	Scoliosis	1/5	OMIM:259770
258	AMBN	HP:0002650	Scoliosis	1/1	OMIM:612394
258	AMBN	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
258	AMBN	HP:0006297	Enamel hypoplasia	4/4	OMIM:616270
258	AMBN	HP:0002757	Recurrent fractures	4/5	OMIM:259770
258	AMBN	HP:0002756	Pathologic fracture	-	OMIM:259770
258	AMBN	HP:0002756	Pathologic fracture	1/1	OMIM:612394
258	AMBN	HP:0002751	Kyphoscoliosis	-	OMIM:259770
258	AMBN	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
258	AMBN	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
258	AMBN	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
258	AMBN	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
258	AMBN	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
258	AMBN	HP:0002164	Nail dysplasia	1/1	OMIM:612394
258	AMBN	HP:0010557	Overlapping fingers	1/2	OMIM:612394
258	AMBN	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
258	AMBN	HP:0003593	Infantile onset	1/5	OMIM:259770
258	AMBN	HP:0003593	Infantile onset	-	OMIM:616270
258	AMBN	HP:0003577	Congenital onset	4/5	OMIM:259770
258	AMBN	HP:0002208	Coarse hair	1/1	OMIM:612394
258	AMBN	HP:0009722	Dental enamel pits	-	OMIM:616270
258	AMBN	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
258	AMBN	HP:0025019	Arterial rupture	1/1	OMIM:612394
258	AMBN	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
258	AMBN	HP:0001089	Iris atrophy	-	OMIM:259770
258	AMBN	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
258	AMBN	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
258	AMBN	HP:0000618	Blindness	5/5	OMIM:259770
258	AMBN	HP:0000667	Phthisis bulbi	-	OMIM:259770
258	AMBN	HP:0004322	Short stature	-	OMIM:259770
258	AMBN	HP:0003016	Metaphyseal widening	-	OMIM:259770
258	AMBN	HP:0000705	Amelogenesis imperfecta	4/4	OMIM:616270
258	AMBN	HP:0011461	Fetal onset	2/2	OMIM:612394
258	AMBN	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
258	AMBN	HP:0003196	Short nose	1/1	OMIM:612394
258	AMBN	HP:0000926	Platyspondyly	-	OMIM:259770
258	AMBN	HP:0000926	Platyspondyly	1/1	OMIM:612394
258	AMBN	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
258	AMBN	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
258	AMBN	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
258	AMBN	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
258	AMBN	HP:0000939	Osteoporosis	4/5	OMIM:259770
258	AMBN	HP:0000938	Osteopenia	1/5	OMIM:259770
258	AMBN	HP:0000938	Osteopenia	1/1	OMIM:612394
258	AMBN	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
258	AMBN	HP:0000272	Malar flattening	1/1	OMIM:612394
258	AMBN	HP:0007773	Vitreoretinopathy	-	OMIM:259770
258	AMBN	HP:0002808	Kyphosis	1/5	OMIM:259770
258	AMBN	HP:0000252	Microcephaly	-	OMIM:259770
258	AMBN	HP:0001552	Barrel-shaped chest	-	OMIM:259770
258	AMBN	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
258	AMBN	HP:0011073	Abnormality of dental color	1/1	OMIM:616270
258	AMBN	HP:0012368	Flat face	1/1	OMIM:612394
258	AMBN	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
258	AMBN	HP:0007875	Congenital blindness	4/5	OMIM:259770
258	AMBN	HP:0007862	Retinal calcification	1/5	OMIM:259770
258	AMBN	HP:0000369	Low-set ears	2/2	OMIM:612394
258	AMBN	HP:0002982	Tibial bowing	1/5	OMIM:259770
258	AMBN	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
258	AMBN	HP:0001629	Ventricular septal defect	-	OMIM:259770
258	AMBN	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
258	AMBN	HP:0000307	Pointed chin	1/2	OMIM:612394
258	AMBN	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
258	AMBN	HP:0000463	Anteverted nares	1/1	OMIM:612394
258	AMBN	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
258	AMBN	HP:0000518	Cataract	1/5	OMIM:259770
258	AMBN	HP:0000518	Cataract	1/1	OMIM:612394
258	AMBN	HP:0000586	Shallow orbits	1/1	OMIM:612394
258	AMBN	HP:0000568	Microphthalmia	1/5	OMIM:259770
258	AMBN	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
258	AMBN	HP:0000545	Myopia	1/1	OMIM:612394
265	AMELX	HP:0006297	Enamel hypoplasia	-	OMIM:301200
265	AMELX	HP:0001423	X-linked dominant inheritance	-	OMIM:301200
265	AMELX	HP:0009102	Anterior open-bite malocclusion	1/1	OMIM:301200
265	AMELX	HP:0000705	Amelogenesis imperfecta	-	OMIM:301200
265	AMELX	HP:0010299	Abnormal dentin morphology	0/3	OMIM:301200
267	AMFR	HP:0001270	Motor delay	20/20	OMIM:620379
267	AMFR	HP:0001256	Intellectual disability, mild	4/20	OMIM:620379
267	AMFR	HP:0001250	Seizure	4/20	OMIM:620379
267	AMFR	HP:0001251	Ataxia	0/19	OMIM:620379
267	AMFR	HP:0001258	Spastic paraplegia	20/20	OMIM:620379
267	AMFR	HP:0033725	Thin corpus callosum	5/9	OMIM:620379
267	AMFR	HP:0000007	Autosomal recessive inheritance	-	OMIM:620379
267	AMFR	HP:0000009	Functional abnormality of the bladder	0/19	OMIM:620379
267	AMFR	HP:0008936	Axial hypotonia	2/20	OMIM:620379
267	AMFR	HP:0003593	Infantile onset	5/20	OMIM:620379
267	AMFR	HP:0002395	Lower limb hyperreflexia	20/20	OMIM:620379
267	AMFR	HP:0002376	Developmental regression	0/20	OMIM:620379
267	AMFR	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2/20	OMIM:620379
267	AMFR	HP:0000750	Delayed speech and language development	0/20	OMIM:620379
267	AMFR	HP:0011463	Childhood onset	15/20	OMIM:620379
267	AMFR	HP:0000252	Microcephaly	1/16	OMIM:620379
267	AMFR	HP:0001511	Intrauterine growth retardation	1/19	OMIM:620379
268	AMH	HP:0008689	Bilateral cryptorchidism	2/2	OMIM:261550
268	AMH	HP:0000037	Male pseudohermaphroditism	HP:0040282	ORPHA:2856
268	AMH	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:2856
268	AMH	HP:0000023	Inguinal hernia	-	OMIM:261550
268	AMH	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2856
268	AMH	HP:0000007	Autosomal recessive inheritance	-	OMIM:261550
268	AMH	HP:0031103	Decreased circulating antimullerian hormone circulation	2/2	OMIM:261550
268	AMH	HP:0003577	Congenital onset	2/2	OMIM:261550
268	AMH	HP:0003251	Male infertility	-	OMIM:261550
269	AMHR2	HP:0008689	Bilateral cryptorchidism	2/2	OMIM:261550
269	AMHR2	HP:0000037	Male pseudohermaphroditism	HP:0040282	ORPHA:2856
269	AMHR2	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:2856
269	AMHR2	HP:0000023	Inguinal hernia	-	OMIM:261550
269	AMHR2	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2856
269	AMHR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:261550
269	AMHR2	HP:0031103	Decreased circulating antimullerian hormone circulation	2/2	OMIM:261550
269	AMHR2	HP:0003577	Congenital onset	2/2	OMIM:261550
269	AMHR2	HP:0003251	Male infertility	-	OMIM:261550
270	AMPD1	HP:0003750	Increased muscle fatiguability	-	OMIM:615511
270	AMPD1	HP:0003738	Exercise-induced myalgia	HP:0040281	ORPHA:45
270	AMPD1	HP:0003738	Exercise-induced myalgia	8/10	OMIM:615511
270	AMPD1	HP:0001284	Areflexia	1/1	OMIM:615511
270	AMPD1	HP:0001252	Hypotonia	1/10	OMIM:615511
270	AMPD1	HP:0001324	Muscle weakness	11/11	OMIM:615511
270	AMPD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615511
270	AMPD1	HP:0003326	Myalgia	HP:0040281	ORPHA:45
270	AMPD1	HP:0003394	Muscle spasm	HP:0040281	ORPHA:45
270	AMPD1	HP:0002151	Increased circulating lactate concentration	-	ORPHA:45
270	AMPD1	HP:0034529	Reduced muscle myoadenylate deaminase activity	-	OMIM:615511
270	AMPD1	HP:0008331	Elevated creatine kinase after exercise	-	ORPHA:45
270	AMPD1	HP:0003690	Limb muscle weakness	HP:0040281	ORPHA:45
270	AMPD1	HP:0009020	Exercise-induced muscle fatigue	HP:0040281	ORPHA:45
270	AMPD1	HP:0003198	Myopathy	1/1	OMIM:615511
270	AMPD1	HP:0003202	Skeletal muscle atrophy	1/1	OMIM:615511
270	AMPD1	HP:0003201	Rhabdomyolysis	1/10	OMIM:615511
271	AMPD2	HP:0001276	Hypertonia	7/8	OMIM:615809
271	AMPD2	HP:0001276	Hypertonia	HP:0040282	ORPHA:401805
271	AMPD2	HP:0001276	Hypertonia	2/2	OMIM:615686
271	AMPD2	HP:0001288	Gait disturbance	2/2	OMIM:615686
271	AMPD2	HP:0001250	Seizure	6/8	OMIM:615809
271	AMPD2	HP:0001249	Intellectual disability	0/2	OMIM:615686
271	AMPD2	HP:0001249	Intellectual disability	8/8	OMIM:615809
271	AMPD2	HP:0001263	Global developmental delay	8/8	OMIM:615809
271	AMPD2	HP:0001258	Spastic paraplegia	-	OMIM:615686
271	AMPD2	HP:0001257	Spasticity	8/8	OMIM:615809
271	AMPD2	HP:0001257	Spasticity	HP:0040282	ORPHA:401805
271	AMPD2	HP:0002518	Abnormal periventricular white matter morphology	1/1	OMIM:615686
271	AMPD2	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:401805
271	AMPD2	HP:0001347	Hyperreflexia	8/8	OMIM:615809
271	AMPD2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:401805
271	AMPD2	HP:0001347	Hyperreflexia	2/2	OMIM:615686
271	AMPD2	HP:0001332	Dystonia	3/8	OMIM:615809
271	AMPD2	HP:0001344	Absent speech	6/8	OMIM:615809
271	AMPD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615809
271	AMPD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615686
271	AMPD2	HP:0001321	Cerebellar hypoplasia	8/8	OMIM:615809
271	AMPD2	HP:0000188	Short upper lip	-	OMIM:615809
271	AMPD2	HP:0000158	Macroglossia	-	OMIM:615809
271	AMPD2	HP:0008936	Axial hypotonia	2/8	OMIM:615809
271	AMPD2	HP:0012110	Hypoplasia of the pons	8/8	OMIM:615809
271	AMPD2	HP:0025405	Visual fixation instability	7/8	OMIM:615809
271	AMPD2	HP:0002015	Dysphagia	7/8	OMIM:615809
271	AMPD2	HP:0011800	Midface retrusion	-	OMIM:615809
271	AMPD2	HP:0002079	Hypoplasia of the corpus callosum	8/8	OMIM:615809
271	AMPD2	HP:0002079	Hypoplasia of the corpus callosum	1/2	OMIM:615686
271	AMPD2	HP:0003477	Peripheral axonal neuropathy	-	OMIM:615809
271	AMPD2	HP:0003487	Babinski sign	2/2	OMIM:615686
271	AMPD2	HP:0002151	Increased circulating lactate concentration	0/8	OMIM:615809
271	AMPD2	HP:0002120	Cerebral cortical atrophy	-	OMIM:615809
271	AMPD2	HP:0002119	Ventriculomegaly	6/8	OMIM:615809
271	AMPD2	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:401805
271	AMPD2	HP:0002169	Clonus	1/2	OMIM:615686
271	AMPD2	HP:0002169	Clonus	6/8	OMIM:615809
271	AMPD2	HP:0003593	Infantile onset	5/8	OMIM:615809
271	AMPD2	HP:0003577	Congenital onset	3/8	OMIM:615809
271	AMPD2	HP:0100704	Cerebral visual impairment	5/8	OMIM:615809
271	AMPD2	HP:0000648	Optic atrophy	4/8	OMIM:615809
271	AMPD2	HP:0004325	Decreased body weight	HP:0040282	ORPHA:401805
271	AMPD2	HP:0004322	Short stature	1/2	OMIM:615686
271	AMPD2	HP:0004322	Short stature	HP:0040282	ORPHA:401805
271	AMPD2	HP:0006970	Periventricular leukomalacia	1/8	OMIM:615809
271	AMPD2	HP:0006938	Impaired vibration sensation at ankles	1/2	OMIM:615686
271	AMPD2	HP:0031936	Delayed ability to walk	2/2	OMIM:615686
271	AMPD2	HP:0000737	Irritability	8/8	OMIM:615809
271	AMPD2	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:401805
271	AMPD2	HP:0003202	Skeletal muscle atrophy	1/2	OMIM:615686
271	AMPD2	HP:0000297	Facial hypotonia	-	OMIM:615809
271	AMPD2	HP:0000377	Abnormal pinna morphology	-	OMIM:615809
271	AMPD2	HP:0000341	Narrow forehead	-	OMIM:615809
271	AMPD2	HP:0000486	Strabismus	1/8	OMIM:615809
271	AMPD2	HP:0000494	Downslanted palpebral fissures	-	OMIM:615809
271	AMPD2	HP:0012434	Delayed early-childhood social milestone development	8/8	OMIM:615809
271	AMPD2	HP:0012407	Scissor gait	HP:0040282	ORPHA:401805
271	AMPD2	HP:0012407	Scissor gait	2/2	OMIM:615686
271	AMPD2	HP:0005484	Secondary microcephaly	8/8	OMIM:615809
272	AMPD3	HP:0003738	Exercise-induced myalgia	HP:0040281	ORPHA:45
272	AMPD3	HP:0003326	Myalgia	HP:0040281	ORPHA:45
272	AMPD3	HP:0003394	Muscle spasm	HP:0040281	ORPHA:45
272	AMPD3	HP:0002151	Increased circulating lactate concentration	-	ORPHA:45
272	AMPD3	HP:0008331	Elevated creatine kinase after exercise	-	ORPHA:45
272	AMPD3	HP:0003690	Limb muscle weakness	HP:0040281	ORPHA:45
272	AMPD3	HP:0009020	Exercise-induced muscle fatigue	HP:0040281	ORPHA:45
274	BIN1	HP:0002460	Distal muscle weakness	-	OMIM:255200
274	BIN1	HP:0003738	Exercise-induced myalgia	HP:0040283	ORPHA:169189
274	BIN1	HP:0003701	Proximal muscle weakness	5/5	OMIM:255200
274	BIN1	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:169186
274	BIN1	HP:0003700	Generalized amyotrophy	-	OMIM:255200
274	BIN1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:169186
274	BIN1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:169189
274	BIN1	HP:0100807	Long fingers	HP:0040283	ORPHA:169186
274	BIN1	HP:0001270	Motor delay	-	OMIM:255200
274	BIN1	HP:0001270	Motor delay	HP:0040282	ORPHA:169186
274	BIN1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:169189
274	BIN1	HP:0001284	Areflexia	-	OMIM:255200
274	BIN1	HP:0001284	Areflexia	HP:0040283	ORPHA:169186
274	BIN1	HP:0001256	Intellectual disability, mild	HP:0040283	OMIM:255200
274	BIN1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:169186
274	BIN1	HP:0001260	Dysarthria	-	OMIM:255200
274	BIN1	HP:0001260	Dysarthria	HP:0040283	ORPHA:169186
274	BIN1	HP:0002515	Waddling gait	HP:0040282	ORPHA:169186
274	BIN1	HP:0002515	Waddling gait	-	OMIM:255200
274	BIN1	HP:0002522	Areflexia of lower limbs	HP:0040283	ORPHA:169189
274	BIN1	HP:0003803	Type 1 muscle fiber predominance	HP:0040283	ORPHA:169186
274	BIN1	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:169189
274	BIN1	HP:0001371	Flexion contracture	3/5	OMIM:255200
274	BIN1	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:169189
274	BIN1	HP:0001349	Facial diplegia	HP:0040283	ORPHA:169186
274	BIN1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:169189
274	BIN1	HP:0008872	Feeding difficulties in infancy	-	OMIM:255200
274	BIN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:255200
274	BIN1	HP:0002650	Scoliosis	-	OMIM:255200
274	BIN1	HP:0001319	Neonatal hypotonia	-	OMIM:255200
274	BIN1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:169186
274	BIN1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:169186
274	BIN1	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:169189
274	BIN1	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040282	ORPHA:169189
274	BIN1	HP:0008981	Calf muscle hypertrophy	HP:0040283	ORPHA:169189
274	BIN1	HP:0001436	Abnormality of the foot musculature	HP:0040282	ORPHA:169189
274	BIN1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:169189
274	BIN1	HP:0002747	Respiratory insufficiency due to muscle weakness	1/5	OMIM:255200
274	BIN1	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:169189
274	BIN1	HP:0003327	Axial muscle weakness	-	OMIM:255200
274	BIN1	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:169186
274	BIN1	HP:0003307	Hyperlordosis	-	OMIM:255200
274	BIN1	HP:0003323	Progressive muscle weakness	HP:0040282	ORPHA:169186
274	BIN1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:169186
274	BIN1	HP:0003391	Gowers sign	HP:0040282	ORPHA:169186
274	BIN1	HP:0003391	Gowers sign	-	OMIM:255200
274	BIN1	HP:0002047	Malignant hyperthermia	HP:0040284	ORPHA:169189
274	BIN1	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:169189
274	BIN1	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:169189
274	BIN1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:169189
274	BIN1	HP:0003458	EMG: myopathic abnormalities	-	OMIM:255200
274	BIN1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040283	ORPHA:169186
274	BIN1	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:169189
274	BIN1	HP:0010546	Muscle fibrillation	HP:0040282	ORPHA:169189
274	BIN1	HP:0003577	Congenital onset	4/5	OMIM:255200
274	BIN1	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:169186
274	BIN1	HP:0010628	Facial palsy	HP:0040282	ORPHA:169186
274	BIN1	HP:0010628	Facial palsy	1/3	OMIM:255200
274	BIN1	HP:0001048	Cavernous hemangioma	HP:0040283	ORPHA:169189
274	BIN1	HP:0003691	Scapular winging	HP:0040283	ORPHA:169186
274	BIN1	HP:0003691	Scapular winging	HP:0040283	OMIM:255200
274	BIN1	HP:0003687	Centrally nucleated skeletal muscle fibers	HP:0040283	ORPHA:169186
274	BIN1	HP:0003687	Centrally nucleated skeletal muscle fibers	HP:0040281	ORPHA:169189
274	BIN1	HP:0003687	Centrally nucleated skeletal muscle fibers	4/4	OMIM:255200
274	BIN1	HP:0003621	Juvenile onset	1/5	OMIM:255200
274	BIN1	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:169186
274	BIN1	HP:0000602	Ophthalmoplegia	1/4	OMIM:255200
274	BIN1	HP:0009046	Difficulty running	HP:0040282	ORPHA:169186
274	BIN1	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:169186
274	BIN1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:169186
274	BIN1	HP:0012768	Neonatal asphyxia	HP:0040283	ORPHA:169189
274	BIN1	HP:0004488	Macrocephaly at birth	HP:0040282	ORPHA:169189
274	BIN1	HP:0000883	Thin ribs	HP:0040282	ORPHA:169189
274	BIN1	HP:0003273	Hip contracture	HP:0040283	ORPHA:169186
274	BIN1	HP:0000278	Retrognathia	HP:0040282	ORPHA:169186
274	BIN1	HP:0000276	Long face	HP:0040283	OMIM:255200
274	BIN1	HP:0000276	Long face	HP:0040283	ORPHA:169186
274	BIN1	HP:0002808	Kyphosis	-	OMIM:255200
274	BIN1	HP:0000218	High palate	HP:0040283	OMIM:255200
274	BIN1	HP:0000218	High palate	HP:0040282	ORPHA:169186
274	BIN1	HP:0001562	Oligohydramnios	3/5	OMIM:255200
274	BIN1	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:169189
274	BIN1	HP:0001558	Decreased fetal movement	3/5	OMIM:255200
274	BIN1	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:169189
274	BIN1	HP:0001520	Large for gestational age	HP:0040282	ORPHA:169189
274	BIN1	HP:0001511	Intrauterine growth retardation	3/5	OMIM:255200
274	BIN1	HP:0005268	Miscarriage	HP:0040282	ORPHA:169189
274	BIN1	HP:0001618	Dysphonia	HP:0040283	ORPHA:169186
274	BIN1	HP:0001618	Dysphonia	-	OMIM:255200
274	BIN1	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:169186
274	BIN1	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:169186
274	BIN1	HP:0000411	Protruding ear	HP:0040283	ORPHA:169186
274	BIN1	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:255200
274	BIN1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:169186
274	BIN1	HP:0001761	Pes cavus	HP:0040283	OMIM:255200
274	BIN1	HP:0001761	Pes cavus	HP:0040283	ORPHA:169186
274	BIN1	HP:0000508	Ptosis	-	OMIM:255200
274	BIN1	HP:0000508	Ptosis	HP:0040282	ORPHA:169189
274	BIN1	HP:0000597	Ophthalmoparesis	HP:0040283	ORPHA:169186
274	BIN1	HP:0000544	External ophthalmoplegia	HP:0040283	ORPHA:169189
275	AMT	HP:0010864	Intellectual disability, severe	1/1	OMIM:620398
275	AMT	HP:0010851	EEG with burst suppression	1/1	OMIM:620398
275	AMT	HP:0001250	Seizure	14/14	OMIM:620398
275	AMT	HP:0500230	Increased CSF glycine concentration	1/1	OMIM:620398
275	AMT	HP:0000007	Autosomal recessive inheritance	-	OMIM:620398
275	AMT	HP:0008288	Nonketotic hyperglycinemia	16/16	OMIM:620398
275	AMT	HP:0003623	Neonatal onset	14/14	OMIM:620398
275	AMT	HP:0011342	Mild global developmental delay	1/1	OMIM:620398
275	AMT	HP:0011463	Childhood onset	1/1	OMIM:620398
275	AMT	HP:0002878	Respiratory failure	14/14	OMIM:620398
283	ANG	HP:0002463	Language impairment	HP:0040283	ORPHA:803
283	ANG	HP:0002460	Distal muscle weakness	-	OMIM:611895
283	ANG	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
283	ANG	HP:0001257	Spasticity	-	OMIM:611895
283	ANG	HP:0001257	Spasticity	HP:0040282	ORPHA:803
283	ANG	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
283	ANG	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:611895
283	ANG	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
283	ANG	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
283	ANG	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
283	ANG	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
283	ANG	HP:0000006	Autosomal dominant inheritance	-	OMIM:611895
283	ANG	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
283	ANG	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
283	ANG	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
283	ANG	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
283	ANG	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
283	ANG	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
283	ANG	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
283	ANG	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
283	ANG	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
283	ANG	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
283	ANG	HP:0003470	Paralysis	HP:0040282	ORPHA:803
283	ANG	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
283	ANG	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
283	ANG	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
283	ANG	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
283	ANG	HP:0003693	Distal amyotrophy	-	OMIM:611895
283	ANG	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
283	ANG	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
283	ANG	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
283	ANG	HP:0002307	Drooling	HP:0040282	ORPHA:803
283	ANG	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
283	ANG	HP:0004326	Cachexia	HP:0040283	ORPHA:803
283	ANG	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
283	ANG	HP:0000739	Anxiety	HP:0040282	ORPHA:803
283	ANG	HP:0000716	Depression	HP:0040282	ORPHA:803
283	ANG	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
283	ANG	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
283	ANG	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
283	ANG	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
283	ANG	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
283	ANG	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
283	ANG	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
283	ANG	HP:0012378	Fatigue	HP:0040282	ORPHA:803
283	ANG	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
283	ANG	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
283	ANG	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
283	ANG	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
283	ANG	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
283	ANG	HP:0001824	Weight loss	HP:0040282	ORPHA:803
283	ANG	HP:0012531	Pain	HP:0040282	ORPHA:803
284	ANGPT1	HP:0007514	Edema of the dorsum of hands	-	OMIM:619361
284	ANGPT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619361
284	ANGPT1	HP:0031244	Swollen lip	-	OMIM:619361
284	ANGPT1	HP:0033250	Nailfold capillary tortuosity	-	OMIM:619361
284	ANGPT1	HP:0100665	Angioedema	4/4	OMIM:619361
284	ANGPT1	HP:0000282	Facial edema	-	OMIM:619361
284	ANGPT1	HP:0030254	Nail bed hemorrhage	-	OMIM:619361
285	ANGPT2	HP:0000034	Hydrocele testis	4/5	OMIM:619369
285	ANGPT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
285	ANGPT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619369
285	ANGPT2	HP:0002619	Varicose veins	-	OMIM:153400
285	ANGPT2	HP:0000175	Cleft palate	5/39	OMIM:153400
285	ANGPT2	HP:0003593	Infantile onset	6/7	OMIM:619369
285	ANGPT2	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
285	ANGPT2	HP:0009743	Distichiasis	42/42	OMIM:153400
285	ANGPT2	HP:0001004	Lymphedema	7/7	OMIM:619369
285	ANGPT2	HP:0001004	Lymphedema	-	OMIM:153400
285	ANGPT2	HP:0100658	Cellulitis	2/6	OMIM:153400
285	ANGPT2	HP:0000613	Photophobia	10/49	OMIM:153400
285	ANGPT2	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
285	ANGPT2	HP:0000656	Ectropion	2/43	OMIM:153400
285	ANGPT2	HP:0003011	Abnormality of the musculature	-	OMIM:153400
285	ANGPT2	HP:0012804	Corneal ulceration	-	OMIM:153400
285	ANGPT2	HP:0010310	Chylothorax	1/6	OMIM:153400
285	ANGPT2	HP:0011675	Arrhythmia	-	OMIM:153400
285	ANGPT2	HP:0002808	Kyphosis	2/5	OMIM:153400
285	ANGPT2	HP:0000204	Cleft upper lip	-	OMIM:153400
285	ANGPT2	HP:0000347	Micrognathia	2/5	OMIM:153400
285	ANGPT2	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
285	ANGPT2	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
285	ANGPT2	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
285	ANGPT2	HP:0000476	Cystic hygroma	2/43	OMIM:153400
285	ANGPT2	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
285	ANGPT2	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
285	ANGPT2	HP:0000465	Webbed neck	6/43	OMIM:153400
285	ANGPT2	HP:0000509	Conjunctivitis	-	OMIM:153400
285	ANGPT2	HP:0000508	Ptosis	2/39	OMIM:153400
285	ANGPT2	HP:0000568	Microphthalmia	1/6	OMIM:153400
286	ANK1	HP:0025143	Chills	HP:0040283	ORPHA:822
286	ANK1	HP:0001250	Seizure	HP:0040283	ORPHA:251066
286	ANK1	HP:0001251	Ataxia	HP:0040283	ORPHA:822
286	ANK1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:251066
286	ANK1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:251066
286	ANK1	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:251066
286	ANK1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:251066
286	ANK1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:251066
286	ANK1	HP:0000027	Azoospermia	HP:0040282	ORPHA:251066
286	ANK1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:822
286	ANK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:182900
286	ANK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:182900
286	ANK1	HP:0000135	Hypogonadism	HP:0040281	ORPHA:251066
286	ANK1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:822
286	ANK1	HP:0003326	Myalgia	HP:0040283	ORPHA:822
286	ANK1	HP:0011900	Hypofibrinogenemia	HP:0040282	ORPHA:822
286	ANK1	HP:0003593	Infantile onset	1/13	OMIM:182900
286	ANK1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:822
286	ANK1	HP:0100724	Hypercoagulability	HP:0040282	ORPHA:822
286	ANK1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:251066
286	ANK1	HP:0200042	Skin ulcer	HP:0040284	ORPHA:822
286	ANK1	HP:0001081	Cholelithiasis	-	OMIM:182900
286	ANK1	HP:0001081	Cholelithiasis	HP:0040282	ORPHA:822
286	ANK1	HP:0003623	Neonatal onset	9/13	OMIM:182900
286	ANK1	HP:0003621	Juvenile onset	2/13	OMIM:182900
286	ANK1	HP:0005525	Spontaneous hemolytic crises	HP:0040282	ORPHA:822
286	ANK1	HP:0005502	Increased red cell osmotic fragility	7/12	OMIM:182900
286	ANK1	HP:0005502	Increased red cell osmotic fragility	HP:0040281	ORPHA:822
286	ANK1	HP:0000639	Nystagmus	HP:0040282	ORPHA:251066
286	ANK1	HP:0001978	Extramedullary hematopoiesis	HP:0040283	ORPHA:822
286	ANK1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:251066
286	ANK1	HP:0001945	Fever	HP:0040283	ORPHA:822
286	ANK1	HP:0001923	Reticulocytosis	14/14	OMIM:182900
286	ANK1	HP:0001923	Reticulocytosis	HP:0040282	ORPHA:822
286	ANK1	HP:0001903	Anemia	HP:0040282	ORPHA:822
286	ANK1	HP:0001997	Gout	HP:0040284	ORPHA:822
286	ANK1	HP:0004322	Short stature	HP:0040281	ORPHA:251066
286	ANK1	HP:0011463	Childhood onset	1/13	OMIM:182900
286	ANK1	HP:0004444	Spherocytosis	HP:0040281	ORPHA:251066
286	ANK1	HP:0004444	Spherocytosis	13/14	OMIM:182900
286	ANK1	HP:0004444	Spherocytosis	HP:0040282	ORPHA:822
286	ANK1	HP:0004467	Preauricular pit	HP:0040282	ORPHA:251066
286	ANK1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040281	ORPHA:251066
286	ANK1	HP:0003270	Abdominal distention	HP:0040284	ORPHA:822
286	ANK1	HP:0000980	Pallor	HP:0040282	ORPHA:822
286	ANK1	HP:0000952	Jaundice	HP:0040282	ORPHA:822
286	ANK1	HP:0000952	Jaundice	12/14	OMIM:182900
286	ANK1	HP:0000960	Sacral dimple	HP:0040283	ORPHA:251066
286	ANK1	HP:0005815	Supernumerary ribs	HP:0040283	ORPHA:251066
286	ANK1	HP:0040186	Maculopapular exanthema	HP:0040283	ORPHA:822
286	ANK1	HP:0000286	Epicanthus	HP:0040283	ORPHA:251066
286	ANK1	HP:0025548	Increased mean corpuscular hemoglobin concentration	HP:0040282	ORPHA:822
286	ANK1	HP:0000252	Microcephaly	HP:0040282	ORPHA:251066
286	ANK1	HP:0000218	High palate	HP:0040282	ORPHA:251066
286	ANK1	HP:0001510	Growth delay	HP:0040283	ORPHA:251066
286	ANK1	HP:0001510	Growth delay	HP:0040284	ORPHA:822
286	ANK1	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:251066
286	ANK1	HP:0002904	Hyperbilirubinemia	14/14	OMIM:182900
286	ANK1	HP:0002904	Hyperbilirubinemia	HP:0040282	ORPHA:822
286	ANK1	HP:0000347	Micrognathia	HP:0040281	ORPHA:251066
286	ANK1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:251066
286	ANK1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:251066
286	ANK1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:251066
286	ANK1	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:251066
286	ANK1	HP:0001723	Restrictive cardiomyopathy	HP:0040283	ORPHA:822
286	ANK1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:251066
286	ANK1	HP:0000482	Microcornea	HP:0040283	ORPHA:251066
286	ANK1	HP:0000458	Anosmia	HP:0040283	ORPHA:251066
286	ANK1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:251066
286	ANK1	HP:0001744	Splenomegaly	6/13	OMIM:182900
286	ANK1	HP:0001744	Splenomegaly	HP:0040282	ORPHA:822
286	ANK1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:251066
286	ANK1	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:251066
286	ANK1	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:251066
286	ANK1	HP:0000556	Retinal dystrophy	HP:0040283	ORPHA:251066
286	ANK1	HP:0001878	Hemolytic anemia	HP:0040281	ORPHA:251066
286	ANK1	HP:0001878	Hemolytic anemia	14/14	OMIM:182900
287	ANK2	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
287	ANK2	HP:0001279	Syncope	4/25	OMIM:600919
287	ANK2	HP:0001279	Syncope	HP:0040282	ORPHA:101016
287	ANK2	HP:0001250	Seizure	HP:0040283	ORPHA:101016
287	ANK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:600919
287	ANK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
287	ANK2	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
287	ANK2	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
287	ANK2	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
287	ANK2	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
287	ANK2	HP:0005110	Atrial fibrillation	-	OMIM:600919
287	ANK2	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
287	ANK2	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
287	ANK2	HP:0000365	Hearing impairment	-	ORPHA:101016
287	ANK2	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
287	ANK2	HP:0001688	Sinus bradycardia	1/25	OMIM:600919
287	ANK2	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
287	ANK2	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
287	ANK2	HP:0001664	Torsade de pointes	1/46	OMIM:115000
287	ANK2	HP:0001645	Sudden cardiac death	3/25	OMIM:600919
287	ANK2	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
287	ANK2	HP:0001645	Sudden cardiac death	-	OMIM:115000
287	ANK2	HP:0001663	Ventricular fibrillation	-	OMIM:115000
287	ANK2	HP:0001657	Prolonged QT interval	4/25	OMIM:600919
287	ANK2	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
287	ANK2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
288	ANK3	HP:0003763	Bruxism	HP:0040282	ORPHA:356996
288	ANK3	HP:0003763	Bruxism	-	OMIM:615493
288	ANK3	HP:0001290	Generalized hypotonia	-	OMIM:615493
288	ANK3	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:356996
288	ANK3	HP:0001250	Seizure	3/5	OMIM:615493
288	ANK3	HP:0001250	Seizure	HP:0040283	ORPHA:356996
288	ANK3	HP:0001252	Hypotonia	3/3	OMIM:615493
288	ANK3	HP:0001252	Hypotonia	HP:0040282	ORPHA:356996
288	ANK3	HP:0001249	Intellectual disability	2/2	OMIM:615493
288	ANK3	HP:0001263	Global developmental delay	3/3	OMIM:615493
288	ANK3	HP:0001257	Spasticity	3/3	OMIM:615493
288	ANK3	HP:0001257	Spasticity	HP:0040282	ORPHA:356996
288	ANK3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615493
288	ANK3	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
288	ANK3	HP:0002360	Sleep abnormality	3/3	OMIM:615493
288	ANK3	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:356996
288	ANK3	HP:0002342	Intellectual disability, moderate	13/13	OMIM:615493
288	ANK3	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:356996
288	ANK3	HP:0000752	Hyperactivity	-	OMIM:615493
288	ANK3	HP:0000752	Hyperactivity	HP:0040282	ORPHA:356996
288	ANK3	HP:0000750	Delayed speech and language development	3/3	OMIM:615493
288	ANK3	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:356996
288	ANK3	HP:0000718	Aggressive behavior	-	OMIM:615493
288	ANK3	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:356996
288	ANK3	HP:0000729	Autistic behavior	HP:0040282	ORPHA:356996
288	ANK3	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
288	ANK3	HP:0000256	Macrocephaly	HP:0040283	ORPHA:356996
288	ANK3	HP:0000252	Microcephaly	0/2	OMIM:615493
288	ANK3	HP:0001520	Large for gestational age	HP:0040283	ORPHA:356996
288	ANK3	HP:0001664	Torsade de pointes	1/46	OMIM:115000
288	ANK3	HP:0001645	Sudden cardiac death	-	OMIM:115000
288	ANK3	HP:0001663	Ventricular fibrillation	-	OMIM:115000
288	ANK3	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
288	ANK3	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
291	SLC25A4	HP:0002490	Increased CSF lactate	1/1	OMIM:615418
291	SLC25A4	HP:0002490	Increased CSF lactate	6/6	OMIM:617184
291	SLC25A4	HP:0001131	Corneal dystrophy	HP:0040283	ORPHA:1369
291	SLC25A4	HP:0007302	Bipolar affective disorder	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0003731	Quadriceps muscle weakness	HP:0040282	ORPHA:254892
291	SLC25A4	HP:0003737	Mitochondrial myopathy	HP:0040282	ORPHA:254892
291	SLC25A4	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0001290	Generalized hypotonia	-	OMIM:617184
291	SLC25A4	HP:0001276	Hypertonia	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0001288	Gait disturbance	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0001254	Lethargy	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0001256	Intellectual disability, mild	1/1	OMIM:615418
291	SLC25A4	HP:0001250	Seizure	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0001250	Seizure	2/7	OMIM:617184
291	SLC25A4	HP:0001251	Ataxia	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0002578	Gastroparesis	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0001265	Hyporeflexia	3/7	OMIM:617184
291	SLC25A4	HP:0001260	Dysarthria	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0002540	Inability to walk	-	OMIM:617184
291	SLC25A4	HP:0003811	Neonatal death	2/7	OMIM:617184
291	SLC25A4	HP:0001392	Abnormality of the liver	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0001349	Facial diplegia	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0000017	Nocturia	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0001324	Muscle weakness	1/2	OMIM:615418
291	SLC25A4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615418
291	SLC25A4	HP:0001337	Tremor	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0000006	Autosomal dominant inheritance	-	OMIM:609283
291	SLC25A4	HP:0000006	Autosomal dominant inheritance	-	OMIM:617184
291	SLC25A4	HP:0012103	Abnormality of the mitochondrion	HP:0040282	ORPHA:254892
291	SLC25A4	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:617184
291	SLC25A4	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0002019	Constipation	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0003348	Hyperalaninemia	1/1	OMIM:615418
291	SLC25A4	HP:0002017	Nausea and vomiting	1/1	OMIM:615418
291	SLC25A4	HP:0003326	Myalgia	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0003326	Myalgia	1/1	OMIM:615418
291	SLC25A4	HP:0002015	Dysphagia	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0003324	Generalized muscle weakness	-	OMIM:609283
291	SLC25A4	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0002094	Dyspnea	1/1	OMIM:615418
291	SLC25A4	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0002067	Bradykinesia	HP:0040282	ORPHA:254892
291	SLC25A4	HP:0002066	Gait ataxia	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0003394	Muscle spasm	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0002063	Rigidity	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0002076	Migraine	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0003388	Easy fatigability	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0003388	Easy fatigability	2/2	OMIM:615418
291	SLC25A4	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0002151	Increased circulating lactate concentration	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:615418
291	SLC25A4	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:254892
291	SLC25A4	HP:0003458	EMG: myopathic abnormalities	-	OMIM:609283
291	SLC25A4	HP:0003458	EMG: myopathic abnormalities	1/1	OMIM:615418
291	SLC25A4	HP:0003438	Absent Achilles reflex	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0011924	Decreased activity of mitochondrial complex III	2/2	OMIM:617184
291	SLC25A4	HP:0011923	Decreased activity of mitochondrial complex I	3/4	OMIM:617184
291	SLC25A4	HP:0003577	Congenital onset	7/7	OMIM:617184
291	SLC25A4	HP:0100704	Cerebral visual impairment	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0003581	Adult onset	-	OMIM:609283
291	SLC25A4	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:254892
291	SLC25A4	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	-	OMIM:609283
291	SLC25A4	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:254892
291	SLC25A4	HP:0003546	Exercise intolerance	-	OMIM:609283
291	SLC25A4	HP:0003546	Exercise intolerance	2/2	OMIM:615418
291	SLC25A4	HP:0007042	Focal white matter lesions	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0008347	Decreased activity of mitochondrial complex IV	5/5	OMIM:617184
291	SLC25A4	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:615418
291	SLC25A4	HP:0010628	Facial palsy	HP:0040282	ORPHA:254892
291	SLC25A4	HP:0010628	Facial palsy	-	OMIM:609283
291	SLC25A4	HP:0002396	Cogwheel rigidity	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0003690	Limb muscle weakness	HP:0040282	ORPHA:254892
291	SLC25A4	HP:0002359	Frequent falls	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0003688	Cytochrome C oxidase-negative muscle fibers	HP:0040282	ORPHA:254892
291	SLC25A4	HP:0003688	Cytochrome C oxidase-negative muscle fibers	-	OMIM:609283
291	SLC25A4	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1/1	OMIM:615418
291	SLC25A4	HP:0003689	Multiple mitochondrial DNA deletions	-	OMIM:609283
291	SLC25A4	HP:0003689	Multiple mitochondrial DNA deletions	1/1	OMIM:615418
291	SLC25A4	HP:0002375	Hypokinesia	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0003676	Progressive	-	OMIM:609283
291	SLC25A4	HP:0003677	Slowly progressive	-	OMIM:615418
291	SLC25A4	HP:0002322	Resting tremor	HP:0040282	ORPHA:254892
291	SLC25A4	HP:0002315	Headache	1/1	OMIM:615418
291	SLC25A4	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0004900	Severe lactic acidosis	1/1	OMIM:615418
291	SLC25A4	HP:0000639	Nystagmus	HP:0040281	ORPHA:1369
291	SLC25A4	HP:0001962	Palpitations	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0001946	Ketosis	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0001952	Glucose intolerance	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:254892
291	SLC25A4	HP:0012664	Reduced left ventricular ejection fraction	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0001992	Organic aciduria	3/7	OMIM:617184
291	SLC25A4	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0000739	Anxiety	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0000716	Depression	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	5/5	OMIM:617184
291	SLC25A4	HP:0011462	Young adult onset	7/7	OMIM:609283
291	SLC25A4	HP:0003198	Myopathy	HP:0040282	ORPHA:254892
291	SLC25A4	HP:0003198	Myopathy	HP:0040281	ORPHA:1369
291	SLC25A4	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:1369
291	SLC25A4	HP:0003128	Lactic acidosis	6/6	OMIM:617184
291	SLC25A4	HP:0000853	Goiter	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0000836	Hyperthyroidism	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0000819	Diabetes mellitus	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:615418
291	SLC25A4	HP:0003202	Skeletal muscle atrophy	1/1	OMIM:615418
291	SLC25A4	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:254892
291	SLC25A4	HP:0003200	Ragged-red muscle fibers	-	OMIM:609283
291	SLC25A4	HP:0003200	Ragged-red muscle fibers	1/1	OMIM:615418
291	SLC25A4	HP:0000969	Edema	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0000939	Osteoporosis	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0011675	Arrhythmia	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0001522	Death in infancy	3/7	OMIM:617184
291	SLC25A4	HP:0001508	Failure to thrive	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0001513	Obesity	1/1	OMIM:615418
291	SLC25A4	HP:0012378	Fatigue	HP:0040282	ORPHA:254892
291	SLC25A4	HP:0012378	Fatigue	1/1	OMIM:615418
291	SLC25A4	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040284	ORPHA:254892
291	SLC25A4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0000338	Hypomimic face	HP:0040282	ORPHA:254892
291	SLC25A4	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0030148	Heart murmur	1/1	OMIM:615418
291	SLC25A4	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:1369
291	SLC25A4	HP:0001639	Hypertrophic cardiomyopathy	2/2	OMIM:615418
291	SLC25A4	HP:0001639	Hypertrophic cardiomyopathy	4/7	OMIM:617184
291	SLC25A4	HP:0000407	Sensorineural hearing impairment	4/20	OMIM:609283
291	SLC25A4	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0001712	Left ventricular hypertrophy	2/2	OMIM:615418
291	SLC25A4	HP:0000486	Strabismus	HP:0040281	ORPHA:1369
291	SLC25A4	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:254892
291	SLC25A4	HP:0001771	Achilles tendon contracture	1/1	OMIM:615418
291	SLC25A4	HP:0000518	Cataract	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0000518	Cataract	HP:0040281	ORPHA:1369
291	SLC25A4	HP:0000518	Cataract	1/1	OMIM:615418
291	SLC25A4	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:1369
291	SLC25A4	HP:0000508	Ptosis	HP:0040281	ORPHA:254892
291	SLC25A4	HP:0000508	Ptosis	7/7	OMIM:609283
291	SLC25A4	HP:0000505	Visual impairment	HP:0040283	ORPHA:254892
291	SLC25A4	HP:0000501	Glaucoma	HP:0040283	ORPHA:1369
291	SLC25A4	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:254892
291	SLC25A4	HP:0000590	Progressive external ophthalmoplegia	-	OMIM:609283
291	SLC25A4	HP:0000545	Myopia	HP:0040282	ORPHA:1369
291	SLC25A4	HP:0000544	External ophthalmoplegia	HP:0040281	ORPHA:254892
308	ANXA5	HP:0000006	Autosomal dominant inheritance	-	OMIM:614391
308	ANXA5	HP:0200067	Recurrent spontaneous abortion	-	OMIM:614391
308	ANXA5	HP:0011462	Young adult onset	-	OMIM:614391
311	ANXA11	HP:0002463	Language impairment	HP:0040283	ORPHA:803
311	ANXA11	HP:0001284	Areflexia	6/11	OMIM:619733
311	ANXA11	HP:0001265	Hyporeflexia	2/10	OMIM:619733
311	ANXA11	HP:0001260	Dysarthria	5/11	OMIM:619733
311	ANXA11	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
311	ANXA11	HP:0001257	Spasticity	HP:0040282	ORPHA:803
311	ANXA11	HP:0033685	Fiber type grouping	-	OMIM:619733
311	ANXA11	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
311	ANXA11	HP:0007354	Amyotrophic lateral sclerosis	12/12	OMIM:617839
311	ANXA11	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
311	ANXA11	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
311	ANXA11	HP:0003805	Rimmed vacuoles	-	OMIM:619733
311	ANXA11	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
311	ANXA11	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
311	ANXA11	HP:0000006	Autosomal dominant inheritance	-	OMIM:617839
311	ANXA11	HP:0000006	Autosomal dominant inheritance	-	OMIM:619733
311	ANXA11	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
311	ANXA11	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
311	ANXA11	HP:0008994	Proximal muscle weakness in lower limbs	11/11	OMIM:619733
311	ANXA11	HP:0008997	Proximal muscle weakness in upper limbs	11/11	OMIM:619733
311	ANXA11	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
311	ANXA11	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
311	ANXA11	HP:0002015	Dysphagia	6/12	OMIM:617839
311	ANXA11	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
311	ANXA11	HP:0100543	Cognitive impairment	3/11	OMIM:619733
311	ANXA11	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
311	ANXA11	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
311	ANXA11	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
311	ANXA11	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
311	ANXA11	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
311	ANXA11	HP:0003470	Paralysis	HP:0040282	ORPHA:803
311	ANXA11	HP:0003487	Babinski sign	1/11	OMIM:619733
311	ANXA11	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
311	ANXA11	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
311	ANXA11	HP:0003419	Low back pain	9/11	OMIM:619733
311	ANXA11	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
311	ANXA11	HP:0003596	Middle age onset	10/11	OMIM:619733
311	ANXA11	HP:0003596	Middle age onset	3/12	OMIM:617839
311	ANXA11	HP:0003584	Late onset	9/12	OMIM:617839
311	ANXA11	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:619733
311	ANXA11	HP:0002380	Fasciculations	3/11	OMIM:619733
311	ANXA11	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
311	ANXA11	HP:0002398	Degeneration of anterior horn cells	-	OMIM:617839
311	ANXA11	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
311	ANXA11	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
311	ANXA11	HP:0003691	Scapular winging	10/10	OMIM:619733
311	ANXA11	HP:0003687	Centrally nucleated skeletal muscle fibers	-	OMIM:619733
311	ANXA11	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
311	ANXA11	HP:0002307	Drooling	2/11	OMIM:619733
311	ANXA11	HP:0002307	Drooling	HP:0040282	ORPHA:803
311	ANXA11	HP:0034045	Angulated muscle fibers	-	OMIM:619733
311	ANXA11	HP:0009023	Abdominal wall muscle weakness	11/11	OMIM:619733
311	ANXA11	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
311	ANXA11	HP:0004326	Cachexia	HP:0040283	ORPHA:803
311	ANXA11	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
311	ANXA11	HP:0000739	Anxiety	HP:0040282	ORPHA:803
311	ANXA11	HP:0000716	Depression	HP:0040282	ORPHA:803
311	ANXA11	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
311	ANXA11	HP:0000726	Dementia	0/12	OMIM:617839
311	ANXA11	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
311	ANXA11	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
311	ANXA11	HP:0003236	Elevated circulating creatine kinase concentration	9/11	OMIM:619733
311	ANXA11	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
311	ANXA11	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
311	ANXA11	HP:0100297	Increased endomysial connective tissue	-	OMIM:619733
311	ANXA11	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
311	ANXA11	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
311	ANXA11	HP:0030007	EMG: positive sharp waves	4/11	OMIM:619733
311	ANXA11	HP:0012378	Fatigue	HP:0040282	ORPHA:803
311	ANXA11	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
311	ANXA11	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
311	ANXA11	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
311	ANXA11	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
311	ANXA11	HP:0030319	Weakness of facial musculature	3/11	OMIM:619733
311	ANXA11	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
311	ANXA11	HP:0025710	Late young adult onset	1/11	OMIM:619733
311	ANXA11	HP:0001824	Weight loss	HP:0040282	ORPHA:803
311	ANXA11	HP:0000508	Ptosis	4/11	OMIM:619733
311	ANXA11	HP:0012548	Fatty replacement of skeletal muscle	-	OMIM:619733
311	ANXA11	HP:0012531	Pain	HP:0040282	ORPHA:803
318	NUDT2	HP:0002454	Eye of the tiger anomaly of globus pallidus	2/2	OMIM:619844
318	NUDT2	HP:0001270	Motor delay	5/5	OMIM:619844
318	NUDT2	HP:0001252	Hypotonia	5/5	OMIM:619844
318	NUDT2	HP:0001263	Global developmental delay	7/7	OMIM:619844
318	NUDT2	HP:0033725	Thin corpus callosum	1/1	OMIM:619844
318	NUDT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619844
318	NUDT2	HP:0002033	Poor suck	7/7	OMIM:619844
318	NUDT2	HP:0003577	Congenital onset	5/5	OMIM:619844
318	NUDT2	HP:0002359	Frequent falls	2/2	OMIM:619844
318	NUDT2	HP:0002317	Unsteady gait	2/2	OMIM:619844
318	NUDT2	HP:0003623	Neonatal onset	2/2	OMIM:619844
318	NUDT2	HP:0006889	Intellectual disability, borderline	5/5	OMIM:619844
318	NUDT2	HP:0000664	Synophrys	1/1	OMIM:619844
318	NUDT2	HP:0031936	Delayed ability to walk	2/2	OMIM:619844
318	NUDT2	HP:0000750	Delayed speech and language development	7/7	OMIM:619844
318	NUDT2	HP:0000278	Retrognathia	1/1	OMIM:619844
318	NUDT2	HP:0000294	Low anterior hairline	1/1	OMIM:619844
318	NUDT2	HP:0001518	Small for gestational age	5/5	OMIM:619844
318	NUDT2	HP:0000431	Wide nasal bridge	1/1	OMIM:619844
324	APC	HP:0001115	Posterior polar cataract	HP:0040283	ORPHA:261584
324	APC	HP:0010935	Abnormality of the upper urinary tract	HP:0040283	ORPHA:873
324	APC	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:261584
324	APC	HP:0100806	Sepsis	HP:0040283	ORPHA:873
324	APC	HP:0002584	Intestinal bleeding	HP:0040282	ORPHA:261584
324	APC	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:261584
324	APC	HP:0002576	Intussusception	HP:0040283	OMIM:174900
324	APC	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
324	APC	HP:0100896	Rectal polyposis	HP:0040282	ORPHA:220460
324	APC	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:3258
324	APC	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:3258
324	APC	HP:0001217	Clubbing	HP:0040283	OMIM:174900
324	APC	HP:0000077	Abnormality of the kidney	HP:0040284	ORPHA:261584
324	APC	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:873
324	APC	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:3258
324	APC	HP:0002672	Gastrointestinal carcinoma	HP:0040284	ORPHA:220460
324	APC	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
324	APC	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
324	APC	HP:0000006	Autosomal dominant inheritance	-	OMIM:135290
324	APC	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
324	APC	HP:0000006	Autosomal dominant inheritance	-	OMIM:619182
324	APC	HP:0000006	Autosomal dominant inheritance	-	OMIM:175100
324	APC	HP:0002650	Scoliosis	HP:0040283	ORPHA:3258
324	APC	HP:0033769	Fundic gland polyposis	32/32	OMIM:619182
324	APC	HP:0033770	Gastric adenocarcinoma	17/32	OMIM:619182
324	APC	HP:0012165	Oligodactyly	HP:0040281	ORPHA:3258
324	APC	HP:0000160	Narrow mouth	HP:0040282	ORPHA:261584
324	APC	HP:0012126	Stomach cancer	-	OMIM:613659
324	APC	HP:0002797	Osteolysis	HP:0040283	ORPHA:873
324	APC	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:873
324	APC	HP:0410067	Increased level of L-fucose in urine	-	OMIM:613659
324	APC	HP:0007649	Congenital hypertrophy of retinal pigment epithelium	-	ORPHA:220460
324	APC	HP:0007649	Congenital hypertrophy of retinal pigment epithelium	37/41	OMIM:175100
324	APC	HP:0007649	Congenital hypertrophy of retinal pigment epithelium	HP:0040282	ORPHA:261584
324	APC	HP:0002705	High, narrow palate	HP:0040283	ORPHA:3258
324	APC	HP:0000131	Uterine leiomyoma	HP:0040283	ORPHA:220460
324	APC	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:873
324	APC	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
324	APC	HP:0001442	Typified by somatic mosaicism	-	OMIM:114550
324	APC	HP:0001442	Typified by somatic mosaicism	-	OMIM:613659
324	APC	HP:0001402	Hepatocellular carcinoma	-	OMIM:114550
324	APC	HP:0001413	Micronodular cirrhosis	-	OMIM:114550
324	APC	HP:0002024	Malabsorption	HP:0040282	ORPHA:873
324	APC	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
324	APC	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
324	APC	HP:0002027	Abdominal pain	2/5	OMIM:619182
324	APC	HP:0002027	Abdominal pain	HP:0040282	ORPHA:873
324	APC	HP:0003326	Myalgia	HP:0040282	ORPHA:873
324	APC	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
324	APC	HP:0002007	Frontal bossing	HP:0040281	ORPHA:3258
324	APC	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:3258
324	APC	HP:0002064	Spastic gait	HP:0040283	ORPHA:261584
324	APC	HP:0040276	Adenocarcinoma of the colon	HP:0040283	ORPHA:220460
324	APC	HP:0005916	Abnormal metacarpal morphology	HP:0040281	ORPHA:3258
324	APC	HP:0004783	Duodenal polyposis	HP:0040282	ORPHA:220460
324	APC	HP:0004783	Duodenal polyposis	90%	OMIM:175100
324	APC	HP:0004783	Duodenal polyposis	HP:0040282	ORPHA:261584
324	APC	HP:0004736	Crossed fused renal ectopia	HP:0040283	ORPHA:3258
324	APC	HP:0002162	Low posterior hairline	HP:0040283	ORPHA:261584
324	APC	HP:0008256	Adrenocortical adenoma	HP:0040284	ORPHA:220460
324	APC	HP:0008256	Adrenocortical adenoma	13%	OMIM:175100
324	APC	HP:0010562	Keloids	-	OMIM:175100
324	APC	HP:0010522	Dyslexia	HP:0040282	ORPHA:261584
324	APC	HP:0009592	Astrocytoma	HP:0040283	ORPHA:220460
324	APC	HP:0009592	Astrocytoma	-	OMIM:175100
324	APC	HP:0003596	Middle age onset	2/8	OMIM:135290
324	APC	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:873
324	APC	HP:0002249	Melena	1/5	OMIM:619182
324	APC	HP:0002234	Early balding	HP:0040282	ORPHA:261584
324	APC	HP:0100749	Chest pain	HP:0040283	ORPHA:873
324	APC	HP:0010619	Fibroadenoma of the breast	HP:0040283	OMIM:175100
324	APC	HP:0010614	Fibroma	HP:0040281	ORPHA:873
324	APC	HP:0010614	Fibroma	HP:0040283	ORPHA:220460
324	APC	HP:0010614	Fibroma	HP:0040283	OMIM:175100
324	APC	HP:0001012	Multiple lipomas	-	OMIM:175100
324	APC	HP:0200008	Intestinal polyposis	HP:0040282	ORPHA:873
324	APC	HP:0200063	Colorectal polyposis	HP:0040281	ORPHA:220460
324	APC	HP:0200063	Colorectal polyposis	3/8	OMIM:135290
324	APC	HP:0200040	Epidermoid cyst	HP:0040282	ORPHA:261584
324	APC	HP:0200040	Epidermoid cyst	2/31	OMIM:175100
324	APC	HP:0009778	Short thumb	HP:0040282	ORPHA:3258
324	APC	HP:0004298	Abnormality of the abdominal wall	HP:0040281	ORPHA:873
324	APC	HP:0005584	Renal cell carcinoma	-	OMIM:114500
324	APC	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:220460
324	APC	HP:0000639	Nystagmus	HP:0040283	ORPHA:3258
324	APC	HP:0001903	Anemia	HP:0040282	OMIM:174900
324	APC	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:3258
324	APC	HP:0000656	Ectropion	HP:0040283	ORPHA:3258
324	APC	HP:0000670	Carious teeth	HP:0040283	OMIM:175100
324	APC	HP:0000668	Hypodontia	HP:0040283	ORPHA:3258
324	APC	HP:0003002	Breast carcinoma	HP:0040284	ORPHA:220460
324	APC	HP:0003002	Breast carcinoma	1/8	OMIM:135290
324	APC	HP:0003003	Colon cancer	HP:0040283	ORPHA:261584
324	APC	HP:0003003	Colon cancer	20%	OMIM:174900
324	APC	HP:0003003	Colon cancer	HP:0040282	ORPHA:220460
324	APC	HP:0003003	Colon cancer	7/31	OMIM:175100
324	APC	HP:0003003	Colon cancer	5/12	OMIM:608456
324	APC	HP:0003003	Colon cancer	1/8	OMIM:135290
324	APC	HP:0003073	Hypoalbuminemia	-	OMIM:174900
324	APC	HP:0004394	Multiple gastric polyps	HP:0040282	ORPHA:220460
324	APC	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:175100
324	APC	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
324	APC	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:3258
324	APC	HP:0003011	Abnormality of the musculature	HP:0040281	ORPHA:873
324	APC	HP:0003022	Hypoplasia of the ulna	HP:0040282	ORPHA:3258
324	APC	HP:0000772	Abnormal rib morphology	HP:0040283	ORPHA:3258
324	APC	HP:0012740	Papilloma	HP:0040283	ORPHA:220460
324	APC	HP:0000706	Eruption failure	HP:0040283	OMIM:175100
324	APC	HP:0011462	Young adult onset	6/8	OMIM:135290
324	APC	HP:0030731	Carcinoma	-	OMIM:175100
324	APC	HP:0003196	Short nose	HP:0040283	ORPHA:3258
324	APC	HP:0004482	Relative macrocephaly	HP:0040282	ORPHA:261584
324	APC	HP:0000854	Thyroid adenoma	HP:0040283	ORPHA:220460
324	APC	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:3258
324	APC	HP:0100246	Osteoma	3/31	OMIM:175100
324	APC	HP:0100246	Osteoma	HP:0040284	ORPHA:261584
324	APC	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:261584
324	APC	HP:0000953	Hyperpigmentation of the skin	-	OMIM:175100
324	APC	HP:0100240	Synostosis of joints	HP:0040281	ORPHA:3258
324	APC	HP:0100245	Gastrointestinal desmoid tumor	HP:0040281	ORPHA:873
324	APC	HP:0100245	Gastrointestinal desmoid tumor	10%	OMIM:175100
324	APC	HP:0100245	Gastrointestinal desmoid tumor	HP:0040283	ORPHA:261584
324	APC	HP:0100245	Gastrointestinal desmoid tumor	7/8	OMIM:135290
324	APC	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:873
324	APC	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:873
324	APC	HP:0000276	Long face	HP:0040282	ORPHA:261584
324	APC	HP:0000272	Malar flattening	HP:0040283	ORPHA:3258
324	APC	HP:0007766	Optic disc hypoplasia	HP:0040283	ORPHA:261584
324	APC	HP:0002829	Arthralgia	HP:0040283	ORPHA:873
324	APC	HP:0002827	Hip dislocation	HP:0040283	ORPHA:3258
324	APC	HP:0005048	Synostosis of carpal bones	HP:0040281	ORPHA:3258
324	APC	HP:0002884	Hepatoblastoma	HP:0040284	ORPHA:261584
324	APC	HP:0002884	Hepatoblastoma	2/470	OMIM:175100
324	APC	HP:0000218	High palate	HP:0040282	ORPHA:261584
324	APC	HP:0000215	Thick upper lip vermilion	HP:0040282	ORPHA:261584
324	APC	HP:0002894	Neoplasm of the pancreas	HP:0040284	ORPHA:220460
324	APC	HP:0002895	Papillary thyroid carcinoma	HP:0040284	ORPHA:220460
324	APC	HP:0002895	Papillary thyroid carcinoma	6%	OMIM:175100
324	APC	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
324	APC	HP:0002885	Medulloblastoma	1%	OMIM:175100
324	APC	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
324	APC	HP:0011069	Supernumerary tooth	HP:0040283	OMIM:175100
324	APC	HP:0011078	Abnormality of canine	HP:0040282	ORPHA:261584
324	APC	HP:0011068	Odontoma	-	OMIM:175100
324	APC	HP:0006572	Subacute progressive viral hepatitis	-	OMIM:114550
324	APC	HP:0005214	Intestinal obstruction	HP:0040283	ORPHA:873
324	APC	HP:0005227	Adenomatous colonic polyposis	HP:0040281	ORPHA:261584
324	APC	HP:0005227	Adenomatous colonic polyposis	HP:0040282	ORPHA:220460
324	APC	HP:0005227	Adenomatous colonic polyposis	31/31	OMIM:175100
324	APC	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
324	APC	HP:0006536	Airway obstruction	HP:0040283	ORPHA:261584
324	APC	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:3258
324	APC	HP:0002900	Hypokalemia	-	OMIM:174900
324	APC	HP:0000365	Hearing impairment	HP:0040283	ORPHA:3258
324	APC	HP:0000343	Long philtrum	HP:0040282	ORPHA:261584
324	APC	HP:0000348	High forehead	HP:0040282	ORPHA:261584
324	APC	HP:0000347	Micrognathia	HP:0040283	ORPHA:261584
324	APC	HP:0002983	Micromelia	HP:0040283	ORPHA:3258
324	APC	HP:0000316	Hypertelorism	HP:0040282	ORPHA:261584
324	APC	HP:0000316	Hypertelorism	HP:0040282	ORPHA:3258
324	APC	HP:0002974	Radioulnar synostosis	HP:0040282	ORPHA:3258
324	APC	HP:0000322	Short philtrum	HP:0040283	ORPHA:3258
324	APC	HP:0002984	Hypoplasia of the radius	HP:0040282	ORPHA:3258
324	APC	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:261584
324	APC	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:261584
324	APC	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:3258
324	APC	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:261584
324	APC	HP:0000470	Short neck	HP:0040283	ORPHA:261584
324	APC	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:3258
324	APC	HP:0030255	Large intestinal polyposis	HP:0040282	ORPHA:220460
324	APC	HP:0000444	Convex nasal ridge	HP:0040283	ORPHA:3258
324	APC	HP:0000411	Protruding ear	HP:0040283	ORPHA:3258
324	APC	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
324	APC	HP:0006753	Neoplasm of the stomach	HP:0040282	ORPHA:220460
324	APC	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
324	APC	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
324	APC	HP:0006744	Adrenocortical carcinoma	HP:0040284	ORPHA:220460
324	APC	HP:0006744	Adrenocortical carcinoma	-	OMIM:175100
324	APC	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
324	APC	HP:0006722	Small intestine carcinoid	-	OMIM:175100
324	APC	HP:0030434	Pilomatrixoma	HP:0040284	ORPHA:220460
324	APC	HP:0006771	Duodenal adenocarcinoma	5%	OMIM:175100
324	APC	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
324	APC	HP:0001849	Foot oligodactyly	HP:0040283	ORPHA:3258
324	APC	HP:0000518	Cataract	HP:0040283	ORPHA:3258
324	APC	HP:0000520	Proptosis	HP:0040283	ORPHA:3258
324	APC	HP:0000508	Ptosis	HP:0040283	ORPHA:3258
324	APC	HP:0001802	Absent toenail	HP:0040282	ORPHA:3258
324	APC	HP:0001817	Absent fingernail	HP:0040281	ORPHA:3258
324	APC	HP:0001891	Iron deficiency anemia	HP:0040282	ORPHA:261584
326	AIRE	HP:0001133	Constriction of peripheral visual field	3/3	OMIM:240300
326	AIRE	HP:0100806	Sepsis	2/9	OMIM:240300
326	AIRE	HP:0002582	Atrophic gastritis	HP:0040283	ORPHA:3453
326	AIRE	HP:0002582	Atrophic gastritis	8/29	OMIM:240300
326	AIRE	HP:0001250	Seizure	2/15	OMIM:240300
326	AIRE	HP:0008720	Primary testicular failure	HP:0040283	ORPHA:3453
326	AIRE	HP:0033637	Anti-endomysial antibody positivity	1/13	OMIM:240300
326	AIRE	HP:0025379	Anti-thyroid peroxidase antibody positivity	7/25	OMIM:240300
326	AIRE	HP:0000026	Male hypogonadism	-	OMIM:240300
326	AIRE	HP:0000007	Autosomal recessive inheritance	-	OMIM:240300
326	AIRE	HP:0000006	Autosomal dominant inheritance	-	OMIM:240300
326	AIRE	HP:0002608	Celiac disease	1/13	OMIM:240300
326	AIRE	HP:0000135	Hypogonadism	HP:0040283	ORPHA:3453
326	AIRE	HP:0000135	Hypogonadism	2/4	OMIM:240300
326	AIRE	HP:0012115	Hepatitis	HP:0040283	ORPHA:3453
326	AIRE	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:3453
326	AIRE	HP:0007663	Reduced visual acuity	4/5	OMIM:240300
326	AIRE	HP:0006297	Enamel hypoplasia	HP:0040282	ORPHA:3453
326	AIRE	HP:0006297	Enamel hypoplasia	67/93	OMIM:240300
326	AIRE	HP:0006270	Hypoplastic spleen	1/9	OMIM:240300
326	AIRE	HP:0000121	Nephrocalcinosis	1/15	OMIM:240300
326	AIRE	HP:0000123	Nephritis	HP:0040283	ORPHA:3453
326	AIRE	HP:0000134	Female hypogonadism	-	OMIM:240300
326	AIRE	HP:0002728	Chronic mucocutaneous candidiasis	7/9	OMIM:240300
326	AIRE	HP:0002728	Chronic mucocutaneous candidiasis	HP:0040281	ORPHA:3453
326	AIRE	HP:0002024	Malabsorption	HP:0040283	ORPHA:3453
326	AIRE	HP:0002024	Malabsorption	22/106	OMIM:240300
326	AIRE	HP:0002014	Diarrhea	14/24	OMIM:240300
326	AIRE	HP:0100530	Abnormal circulating calcium-phosphate regulating hormone concentration	HP:0040281	ORPHA:3453
326	AIRE	HP:0100502	Decreased circulating vitamin B12 concentration	HP:0040282	ORPHA:3453
326	AIRE	HP:0100582	Nasal polyposis	1/9	OMIM:240300
326	AIRE	HP:0003472	Hypocalcemic tetany	1/1	OMIM:240300
326	AIRE	HP:0008221	Adrenal hyperplasia	HP:0040281	ORPHA:3453
326	AIRE	HP:0008209	Premature ovarian insufficiency	HP:0040282	ORPHA:3453
326	AIRE	HP:0008209	Premature ovarian insufficiency	17/24	OMIM:240300
326	AIRE	HP:0008207	Primary adrenal insufficiency	15/15	OMIM:240300
326	AIRE	HP:0008207	Primary adrenal insufficiency	HP:0040281	ORPHA:3453
326	AIRE	HP:0003593	Infantile onset	1/13	OMIM:240300
326	AIRE	HP:0002232	Patchy alopecia	1/4	OMIM:240300
326	AIRE	HP:5000011	Anti-GAD65 antibody	3/21	OMIM:240300
326	AIRE	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:3453
326	AIRE	HP:0008404	Nail dystrophy	35/72	OMIM:240300
326	AIRE	HP:0200120	Chronic active hepatitis	14/47	OMIM:240300
326	AIRE	HP:6000343	Antiparietal cell antibody positivity	8/29	OMIM:240300
326	AIRE	HP:0002289	Alopecia universalis	1/4	OMIM:240300
326	AIRE	HP:0032069	Anti-thyroglobulin antibody positivity	3/17	OMIM:240300
326	AIRE	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:3453
326	AIRE	HP:0001045	Vitiligo	17/107	OMIM:240300
326	AIRE	HP:0001045	Vitiligo	HP:0040283	ORPHA:3453
326	AIRE	HP:0100651	Type I diabetes mellitus	HP:0040282	ORPHA:3453
326	AIRE	HP:0100651	Type I diabetes mellitus	2/15	OMIM:240300
326	AIRE	HP:0100647	Graves disease	3/19	OMIM:240300
326	AIRE	HP:0100659	Abnormal cerebral vascular morphology	HP:0040281	ORPHA:3453
326	AIRE	HP:0001096	Keratoconjunctivitis	HP:0040282	ORPHA:3453
326	AIRE	HP:0001096	Keratoconjunctivitis	8/29	OMIM:240300
326	AIRE	HP:0001094	Iridocyclitis	1/13	OMIM:240300
326	AIRE	HP:0001081	Cholelithiasis	11/34	OMIM:240300
326	AIRE	HP:0020123	Tympanosclerosis	22/68	OMIM:240300
326	AIRE	HP:0003623	Neonatal onset	9/27	OMIM:240300
326	AIRE	HP:0003621	Juvenile onset	18/43	OMIM:240300
326	AIRE	HP:0009098	Chronic oral candidiasis	68/68	OMIM:240300
326	AIRE	HP:4000030	Anti-reticulin antibody positivity	1/13	OMIM:240300
326	AIRE	HP:0034055	Anti-side-chain cleavage enzyme antibody positivity	HP:0040282	ORPHA:3453
326	AIRE	HP:0034055	Anti-side-chain cleavage enzyme antibody positivity	1/1	OMIM:240300
326	AIRE	HP:0034071	Anti-21-hydroxylase antibody positivity	HP:0040282	ORPHA:3453
326	AIRE	HP:0034071	Anti-21-hydroxylase antibody positivity	5/12	OMIM:240300
326	AIRE	HP:0031817	Decreased circulating parathyroid hormone level	23/23	OMIM:240300
326	AIRE	HP:0000648	Optic atrophy	HP:0040283	ORPHA:3453
326	AIRE	HP:0000613	Photophobia	HP:0040282	ORPHA:3453
326	AIRE	HP:0004319	Decreased circulating aldosterone concentration	-	OMIM:240300
326	AIRE	HP:0004319	Decreased circulating aldosterone concentration	HP:0040281	ORPHA:3453
326	AIRE	HP:0030629	Perifoveal ring of hyperautofluorescence	-	OMIM:240300
326	AIRE	HP:0034189	Anti-thyroid-stimulating hormone receptor antibody positivity	1/4	OMIM:240300
326	AIRE	HP:0011463	Childhood onset	39/67	OMIM:240300
326	AIRE	HP:0003118	Increased circulating cortisol level	HP:0040281	ORPHA:3453
326	AIRE	HP:0000872	Hashimoto thyroiditis	HP:0040283	ORPHA:3453
326	AIRE	HP:0000846	Adrenal insufficiency	49/68	OMIM:240300
326	AIRE	HP:0012804	Corneal ulceration	HP:0040283	ORPHA:3453
326	AIRE	HP:0000829	Hypoparathyroidism	121/136	OMIM:240300
326	AIRE	HP:0000829	Hypoparathyroidism	HP:0040281	ORPHA:3453
326	AIRE	HP:0000821	Hypothyroidism	13/101	OMIM:240300
326	AIRE	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:3453
326	AIRE	HP:0000968	Ectodermal dysplasia	HP:0040282	ORPHA:3453
326	AIRE	HP:0001596	Alopecia	HP:0040283	ORPHA:3453
326	AIRE	HP:0001596	Alopecia	38/106	OMIM:240300
326	AIRE	HP:0007759	Opacification of the corneal stroma	HP:0040282	ORPHA:3453
326	AIRE	HP:0012203	Onychomycosis	3/17	OMIM:240300
326	AIRE	HP:0002841	Recurrent fungal infections	14/15	OMIM:240300
326	AIRE	HP:0006515	Interstitial pneumonitis	HP:0040283	ORPHA:3453
326	AIRE	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	3/13	OMIM:240300
326	AIRE	HP:0002960	Autoimmunity	HP:0040281	ORPHA:3453
326	AIRE	HP:0000403	Recurrent otitis media	1/9	OMIM:240300
326	AIRE	HP:0001733	Pancreatitis	1/1	OMIM:240300
326	AIRE	HP:0011109	Chronic sinusitis	1/9	OMIM:240300
326	AIRE	HP:0001746	Asplenia	10/25	OMIM:240300
326	AIRE	HP:0001746	Asplenia	HP:0040283	ORPHA:3453
326	AIRE	HP:0000518	Cataract	8/28	OMIM:240300
326	AIRE	HP:0000518	Cataract	HP:0040282	ORPHA:3453
326	AIRE	HP:0001803	Nail pits	2/9	OMIM:240300
326	AIRE	HP:0000580	Pigmentary retinopathy	5/5	OMIM:240300
326	AIRE	HP:0000554	Uveitis	HP:0040283	ORPHA:3453
330	BIRC3	HP:0012191	B-cell lymphoma	HP:0040281	ORPHA:52417
330	BIRC3	HP:0012123	Posterior uveitis	HP:0040283	ORPHA:52417
330	BIRC3	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:52417
330	BIRC3	HP:0002019	Constipation	HP:0040282	ORPHA:52417
330	BIRC3	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:52417
330	BIRC3	HP:0002027	Abdominal pain	HP:0040283	ORPHA:52417
330	BIRC3	HP:0002113	Pulmonary infiltrates	HP:0040281	ORPHA:52417
330	BIRC3	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:52417
330	BIRC3	HP:0100721	Mediastinal lymphadenopathy	HP:0040283	ORPHA:52417
330	BIRC3	HP:0000614	Abnormal nasolacrimal system morphology	HP:0040283	ORPHA:52417
330	BIRC3	HP:0001945	Fever	HP:0040281	ORPHA:52417
330	BIRC3	HP:0001903	Anemia	HP:0040281	ORPHA:52417
330	BIRC3	HP:0000820	Abnormality of the thyroid gland	HP:0040283	ORPHA:52417
330	BIRC3	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:52417
330	BIRC3	HP:0012378	Fatigue	HP:0040281	ORPHA:52417
330	BIRC3	HP:0001824	Weight loss	HP:0040281	ORPHA:52417
330	BIRC3	HP:0000505	Visual impairment	HP:0040283	ORPHA:52417
331	XIAP	HP:0002480	Hepatic encephalopathy	-	OMIM:308240
331	XIAP	HP:0100827	Increased total lymphocyte count	-	OMIM:308240
331	XIAP	HP:0001287	Meningitis	1/6	OMIM:308240
331	XIAP	HP:0002583	Colitis	-	OMIM:300635
331	XIAP	HP:0002583	Colitis	HP:0040283	ORPHA:538934
331	XIAP	HP:0010975	Abnormal B cell count	0/7	OMIM:308240
331	XIAP	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:538934
331	XIAP	HP:0001399	Hepatic failure	1/6	OMIM:308240
331	XIAP	HP:0001399	Hepatic failure	HP:0040284	ORPHA:538934
331	XIAP	HP:0001369	Arthritis	HP:0040283	ORPHA:538934
331	XIAP	HP:0002665	Lymphoma	25/104	OMIM:308240
331	XIAP	HP:0002633	Vasculitis	2/91	OMIM:308240
331	XIAP	HP:0012177	Abnormal natural killer cell physiology	1/1	OMIM:308240
331	XIAP	HP:0012156	Hemophagocytosis	4/9	OMIM:300635
331	XIAP	HP:0012156	Hemophagocytosis	39/118	OMIM:308240
331	XIAP	HP:0012115	Hepatitis	8/9	OMIM:300635
331	XIAP	HP:0012115	Hepatitis	HP:0040282	ORPHA:538934
331	XIAP	HP:0031292	Cutaneous abscess	HP:0040283	ORPHA:538934
331	XIAP	HP:0000123	Nephritis	HP:0040283	ORPHA:538934
331	XIAP	HP:0001419	X-linked recessive inheritance	-	OMIM:300635
331	XIAP	HP:0001419	X-linked recessive inheritance	-	OMIM:308240
331	XIAP	HP:0001417	X-linked inheritance	-	OMIM:300635
331	XIAP	HP:0002719	Recurrent infections	HP:0040283	ORPHA:538934
331	XIAP	HP:0002719	Recurrent infections	-	OMIM:300635
331	XIAP	HP:0002716	Lymphadenopathy	-	OMIM:308240
331	XIAP	HP:0002721	Immunodeficiency	-	OMIM:300635
331	XIAP	HP:0002721	Immunodeficiency	-	OMIM:308240
331	XIAP	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:538934
331	XIAP	HP:0002037	Inflammation of the large intestine	-	OMIM:300635
331	XIAP	HP:0002037	Inflammation of the large intestine	HP:0040283	ORPHA:538934
331	XIAP	HP:0002155	Hypertriglyceridemia	7/8	OMIM:300635
331	XIAP	HP:0004787	Fulminant hepatitis	1/6	OMIM:308240
331	XIAP	HP:0011900	Hypofibrinogenemia	7/8	OMIM:300635
331	XIAP	HP:0003496	Increased circulating IgM level	-	OMIM:308240
331	XIAP	HP:0011839	Abnormal T cell count	0/13	OMIM:308240
331	XIAP	HP:0002240	Hepatomegaly	-	OMIM:300635
331	XIAP	HP:0002240	Hepatomegaly	3/7	OMIM:308240
331	XIAP	HP:0002205	Recurrent respiratory infections	-	OMIM:300635
331	XIAP	HP:0002205	Recurrent respiratory infections	2/6	OMIM:308240
331	XIAP	HP:0100776	Recurrent pharyngitis	-	OMIM:308240
331	XIAP	HP:0002383	Infectious encephalitis	-	OMIM:308240
331	XIAP	HP:0001061	Acne	-	OMIM:300635
331	XIAP	HP:0025084	Folliculitis	-	OMIM:300635
331	XIAP	HP:0034799	Splenic hemophagocytosis	HP:0040282	ORPHA:538934
331	XIAP	HP:0001945	Fever	9/10	OMIM:300635
331	XIAP	HP:0001954	Recurrent fever	-	OMIM:300635
331	XIAP	HP:0001954	Recurrent fever	1/1	OMIM:308240
331	XIAP	HP:0001954	Recurrent fever	HP:0040282	ORPHA:538934
331	XIAP	HP:0001915	Aplastic anemia	HP:0040284	OMIM:300635
331	XIAP	HP:0001915	Aplastic anemia	3/91	OMIM:308240
331	XIAP	HP:0004315	Decreased circulating IgG concentration	8/13	OMIM:308240
331	XIAP	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:300635
331	XIAP	HP:0004313	Decreased circulating immunoglobulin concentration	10/13	OMIM:308240
331	XIAP	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040283	ORPHA:538934
331	XIAP	HP:0003073	Hypoalbuminemia	1/1	OMIM:308240
331	XIAP	HP:0011463	Childhood onset	1/1	OMIM:308240
331	XIAP	HP:0040218	Reduced total natural killer cell count	HP:0040283	ORPHA:538934
331	XIAP	HP:0003281	Increased circulating ferritin concentration	7/8	OMIM:300635
331	XIAP	HP:0100280	Crohn's disease	HP:0040282	ORPHA:538934
331	XIAP	HP:0030080	Burkitt lymphoma	2/13	OMIM:308240
331	XIAP	HP:0001581	Recurrent skin infections	-	OMIM:300635
331	XIAP	HP:0012219	Erythema nodosum	-	OMIM:300635
331	XIAP	HP:0012219	Erythema nodosum	HP:0040283	ORPHA:538934
331	XIAP	HP:0005229	Jejunoileal ulceration	HP:0040282	ORPHA:538934
331	XIAP	HP:0030151	Cholangitis	HP:0040283	ORPHA:538934
331	XIAP	HP:0002961	Dysgammaglobulinemia	46/91	OMIM:308240
331	XIAP	HP:0001744	Splenomegaly	9/10	OMIM:300635
331	XIAP	HP:0001744	Splenomegaly	2/6	OMIM:308240
331	XIAP	HP:0001744	Splenomegaly	HP:0040282	ORPHA:538934
331	XIAP	HP:0031693	Severe Epstein Barr virus infection	HP:0040283	ORPHA:538934
331	XIAP	HP:0031693	Severe Epstein Barr virus infection	16/110	OMIM:308240
331	XIAP	HP:0011227	Elevated circulating C-reactive protein concentration	1/1	OMIM:308240
331	XIAP	HP:0000554	Uveitis	HP:0040283	ORPHA:538934
331	XIAP	HP:0001873	Thrombocytopenia	-	OMIM:308240
331	XIAP	HP:0001876	Pancytopenia	HP:0040284	OMIM:300635
331	XIAP	HP:0001876	Pancytopenia	1/1	OMIM:308240
331	XIAP	HP:0001876	Pancytopenia	HP:0040282	ORPHA:538934
331	XIAP	HP:0001875	Decreased total neutrophil count	12/57	OMIM:308240
335	APOA1	HP:0003774	Stage 5 chronic kidney disease	2/2	OMIM:620657
335	APOA1	HP:0001114	Xanthelasma	HP:0040282	ORPHA:425
335	APOA1	HP:0010874	Tendon xanthomatosis	1/5	OMIM:618463
335	APOA1	HP:0000093	Proteinuria	1/1	OMIM:620657
335	APOA1	HP:0001399	Hepatic failure	1/1	OMIM:620657
335	APOA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618463
335	APOA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620657
335	APOA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619836
335	APOA1	HP:0002621	Atherosclerosis	HP:0040281	ORPHA:425
335	APOA1	HP:0002014	Diarrhea	1/1	OMIM:620657
335	APOA1	HP:0002094	Dyspnea	1/1	OMIM:620657
335	APOA1	HP:0003596	Middle age onset	5/5	OMIM:620657
335	APOA1	HP:0002240	Hepatomegaly	1/1	OMIM:620657
335	APOA1	HP:0010637	Conjunctival amyloidosis	1/1	OMIM:620657
335	APOA1	HP:0001084	Corneal arcus	1/5	OMIM:618463
335	APOA1	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:620657
335	APOA1	HP:0000622	Blurred vision	HP:0040282	ORPHA:425
335	APOA1	HP:0001917	Renal amyloidosis	3/3	OMIM:620657
335	APOA1	HP:0031799	Decreased circulating apolipoprotein A-I concentration	-	OMIM:619836
335	APOA1	HP:0031799	Decreased circulating apolipoprotein A-I concentration	1/1	OMIM:620657
335	APOA1	HP:0011462	Young adult onset	5/5	OMIM:620657
335	APOA1	HP:0011462	Young adult onset	5/5	OMIM:618463
335	APOA1	HP:0000789	Infertility	1/1	OMIM:620657
335	APOA1	HP:0003119	Abnormal circulating lipid concentration	HP:0040281	ORPHA:425
335	APOA1	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:620657
335	APOA1	HP:0000822	Hypertension	1/1	OMIM:620657
335	APOA1	HP:0003233	Decreased HDL cholesterol concentration	5/5	OMIM:618463
335	APOA1	HP:0003233	Decreased HDL cholesterol concentration	-	OMIM:619836
335	APOA1	HP:0003233	Decreased HDL cholesterol concentration	HP:0040281	ORPHA:425
335	APOA1	HP:0003233	Decreased HDL cholesterol concentration	1/1	OMIM:620657
335	APOA1	HP:0003216	Generalized amyloid deposition	1/1	OMIM:620657
335	APOA1	HP:0030843	Cardiac amyloidosis	4/4	OMIM:620657
335	APOA1	HP:0000978	Bruising susceptibility	1/1	OMIM:620657
335	APOA1	HP:0000991	Xanthomatosis	HP:0040282	ORPHA:425
335	APOA1	HP:0000956	Acanthosis nigricans	1/1	OMIM:620657
335	APOA1	HP:0012280	Hepatic amyloidosis	3/3	OMIM:620657
335	APOA1	HP:0007759	Opacification of the corneal stroma	HP:0040281	ORPHA:425
335	APOA1	HP:0011034	Amyloidosis	1/1	OMIM:620657
335	APOA1	HP:0001609	Hoarse voice	1/1	OMIM:620657
335	APOA1	HP:0005181	Premature coronary artery atherosclerosis	2/5	OMIM:618463
335	APOA1	HP:0005181	Premature coronary artery atherosclerosis	HP:0040282	ORPHA:425
335	APOA1	HP:0002907	Microscopic hematuria	1/1	OMIM:620657
335	APOA1	HP:0001681	Angina pectoris	HP:0040282	ORPHA:425
335	APOA1	HP:0012309	Cutaneous amyloidosis	3/3	OMIM:620657
335	APOA1	HP:0001640	Cardiomegaly	2/2	OMIM:620657
335	APOA1	HP:0001635	Congestive heart failure	5/5	OMIM:620657
335	APOA1	HP:0001638	Cardiomyopathy	2/3	OMIM:620657
335	APOA1	HP:0000518	Cataract	1/5	OMIM:618463
335	APOA1	HP:0001873	Thrombocytopenia	1/1	OMIM:620657
336	APOA2	HP:0001114	Xanthelasma	-	OMIM:143890
336	APOA2	HP:0010874	Tendon xanthomatosis	-	OMIM:143890
336	APOA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:143890
336	APOA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:143890
336	APOA2	HP:0001084	Corneal arcus	-	OMIM:143890
336	APOA2	HP:0003141	Increased LDL cholesterol concentration	-	OMIM:143890
336	APOA2	HP:0001677	Coronary artery atherosclerosis	-	OMIM:143890
338	APOB	HP:0001138	Optic neuropathy	HP:0040284	ORPHA:391665
338	APOB	HP:0001114	Xanthelasma	-	OMIM:144010
338	APOB	HP:0010874	Tendon xanthomatosis	HP:0040283	ORPHA:391665
338	APOB	HP:0001251	Ataxia	-	OMIM:615558
338	APOB	HP:0002570	Steatorrhea	3/3	OMIM:615558
338	APOB	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:391665
338	APOB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615558
338	APOB	HP:0000006	Autosomal dominant inheritance	-	OMIM:144010
338	APOB	HP:0001315	Reduced tendon reflexes	-	OMIM:615558
338	APOB	HP:0002094	Dyspnea	HP:0040282	ORPHA:391665
338	APOB	HP:0100513	Decreased circulating vitamin E concentration	3/3	OMIM:615558
338	APOB	HP:0002155	Hypertriglyceridemia	0/1	OMIM:615558
338	APOB	HP:0003593	Infantile onset	1/1	OMIM:615558
338	APOB	HP:0003563	Decreased LDL cholesterol concentration	4/4	OMIM:615558
338	APOB	HP:0007201	Cerebral artery atherosclerosis	HP:0040282	ORPHA:391665
338	APOB	HP:0001084	Corneal arcus	-	OMIM:144010
338	APOB	HP:0004963	Calcification of the aorta	HP:0040283	ORPHA:391665
338	APOB	HP:0004950	Peripheral arterial stenosis	HP:0040282	ORPHA:391665
338	APOB	HP:0004905	Reduced circulating vitamin A concentration	3/3	OMIM:615558
338	APOB	HP:0001927	Acanthocytosis	3/3	OMIM:615558
338	APOB	HP:0001920	Renal artery stenosis	HP:0040282	ORPHA:391665
338	APOB	HP:0012638	Abnormal nervous system physiology	HP:0040284	ORPHA:391665
338	APOB	HP:0031956	Elevated circulating aspartate aminotransferase concentration	3/3	OMIM:615558
338	APOB	HP:0031964	Elevated circulating alanine aminotransferase concentration	3/3	OMIM:615558
338	APOB	HP:0003077	Hyperlipidemia	HP:0040280	ORPHA:391665
338	APOB	HP:0004381	Supravalvular aortic stenosis	HP:0040283	ORPHA:391665
338	APOB	HP:0000799	Renal steatosis	HP:0040283	ORPHA:391665
338	APOB	HP:0003124	Hypercholesterolemia	HP:0040280	ORPHA:391665
338	APOB	HP:0003124	Hypercholesterolemia	5/8	OMIM:144010
338	APOB	HP:0004416	Precocious atherosclerosis	HP:0040281	ORPHA:391665
338	APOB	HP:0003146	Hypocholesterolemia	3/3	OMIM:615558
338	APOB	HP:0003141	Increased LDL cholesterol concentration	HP:0040280	ORPHA:391665
338	APOB	HP:0003141	Increased LDL cholesterol concentration	7/8	OMIM:144010
338	APOB	HP:0000822	Hypertension	HP:0040282	ORPHA:391665
338	APOB	HP:0003233	Decreased HDL cholesterol concentration	3/3	OMIM:615558
338	APOB	HP:0030882	Coronary artery aneurysm	HP:0040284	ORPHA:391665
338	APOB	HP:0100261	Abnormal tendon morphology	HP:0040282	ORPHA:391665
338	APOB	HP:0000991	Xanthomatosis	HP:0040283	ORPHA:391665
338	APOB	HP:0002829	Arthralgia	HP:0040283	ORPHA:391665
338	APOB	HP:0012397	Aortic atherosclerotic lesion	HP:0040282	ORPHA:391665
338	APOB	HP:0012373	Abnormal eye physiology	HP:0040284	ORPHA:391665
338	APOB	HP:0005177	Premature arteriosclerosis	HP:0040281	ORPHA:391665
338	APOB	HP:0005181	Premature coronary artery atherosclerosis	HP:0040282	ORPHA:391665
338	APOB	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:391665
338	APOB	HP:0001681	Angina pectoris	HP:0040282	ORPHA:391665
338	APOB	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:391665
338	APOB	HP:0001677	Coronary artery atherosclerosis	-	OMIM:144010
338	APOB	HP:0001645	Sudden cardiac death	HP:0040282	ORPHA:391665
338	APOB	HP:0030148	Heart murmur	HP:0040282	ORPHA:391665
338	APOB	HP:0001658	Myocardial infarction	HP:0040282	ORPHA:391665
338	APOB	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:391665
338	APOB	HP:0006693	Myocardial steatosis	HP:0040282	ORPHA:391665
338	APOB	HP:3000062	Abnormal internal carotid artery morphology	HP:0040282	ORPHA:391665
338	APOB	HP:0000510	Rod-cone dystrophy	0/1	OMIM:615558
338	APOB	HP:0000546	Retinal degeneration	-	OMIM:615558
344	APOC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:207750
344	APOC2	HP:0002155	Hypertriglyceridemia	12/12	OMIM:207750
344	APOC2	HP:0002240	Hepatomegaly	4/6	OMIM:207750
344	APOC2	HP:0001013	Eruptive xanthomas	1/10	OMIM:207750
344	APOC2	HP:0000660	Lipemia retinalis	1/2	OMIM:207750
344	APOC2	HP:0003124	Hypercholesterolemia	2/2	OMIM:207750
344	APOC2	HP:0012238	Increased circulating chylomicron concentration	10/10	OMIM:207750
344	APOC2	HP:0033983	Decreased circulating apolipoprotein C-II concentration	11/11	OMIM:207750
344	APOC2	HP:0001733	Pancreatitis	5/8	OMIM:207750
344	APOC2	HP:0001744	Splenomegaly	2/2	OMIM:207750
345	APOC3	HP:0012184	Increased HDL cholesterol concentration	-	OMIM:614028
345	APOC3	HP:0012153	Hypotriglyceridemia	-	OMIM:614028
345	APOC3	HP:0003563	Decreased LDL cholesterol concentration	-	OMIM:614028
348	APOE	HP:0001114	Xanthelasma	HP:0040282	ORPHA:412
348	APOE	HP:0010874	Tendon xanthomatosis	HP:0040282	ORPHA:412
348	APOE	HP:0002423	Long-tract sign	-	OMIM:104310
348	APOE	HP:0100820	Glomerulopathy	-	OMIM:611771
348	APOE	HP:0001289	Confusion	1/2	OMIM:606889
348	APOE	HP:0001288	Gait disturbance	-	OMIM:607822
348	APOE	HP:0001285	Spastic tetraparesis	-	OMIM:607822
348	APOE	HP:0001250	Seizure	-	OMIM:607822
348	APOE	HP:0001260	Dysarthria	-	OMIM:607822
348	APOE	HP:0031058	Impairment of activities of daily living	2/3	OMIM:606889
348	APOE	HP:0002511	Alzheimer disease	2/3	OMIM:606889
348	APOE	HP:0002511	Alzheimer disease	-	OMIM:607822
348	APOE	HP:0002511	Alzheimer disease	-	OMIM:104310
348	APOE	HP:0000083	Renal insufficiency	-	OMIM:611771
348	APOE	HP:0000093	Proteinuria	-	OMIM:611771
348	APOE	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:412
348	APOE	HP:0001394	Cirrhosis	-	OMIM:269600
348	APOE	HP:0001332	Dystonia	-	OMIM:607822
348	APOE	HP:0000007	Autosomal recessive inheritance	-	OMIM:269600
348	APOE	HP:0000006	Autosomal dominant inheritance	-	OMIM:603075
348	APOE	HP:0000006	Autosomal dominant inheritance	-	OMIM:606889
348	APOE	HP:0000006	Autosomal dominant inheritance	-	OMIM:104310
348	APOE	HP:0000006	Autosomal dominant inheritance	-	OMIM:607822
348	APOE	HP:0001336	Myoclonus	-	OMIM:607822
348	APOE	HP:0001336	Myoclonus	1/2	OMIM:606889
348	APOE	HP:0002635	Type IV atherosclerotic lesion	HP:0040282	ORPHA:412
348	APOE	HP:0001300	Parkinsonism	-	OMIM:104310
348	APOE	HP:0031290	Tuberous xanthoma	HP:0040282	ORPHA:412
348	APOE	HP:0002015	Dysphagia	-	OMIM:607822
348	APOE	HP:0100543	Cognitive impairment	-	OMIM:606889
348	APOE	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:607822
348	APOE	HP:0002155	Hypertriglyceridemia	HP:0040281	ORPHA:412
348	APOE	HP:0003487	Babinski sign	-	OMIM:607822
348	APOE	HP:0002120	Cerebral cortical atrophy	-	OMIM:607822
348	APOE	HP:0002186	Apraxia	-	OMIM:607822
348	APOE	HP:0002186	Apraxia	2/5	OMIM:606889
348	APOE	HP:0002185	Neurofibrillary tangles	-	OMIM:606889
348	APOE	HP:0002185	Neurofibrillary tangles	-	OMIM:607822
348	APOE	HP:0002185	Neurofibrillary tangles	20/20	OMIM:104310
348	APOE	HP:0002197	Generalized-onset seizure	1/3	OMIM:606889
348	APOE	HP:0010524	Disturbed sensory perception	HP:0040283	OMIM:607822
348	APOE	HP:0003596	Middle age onset	11/11	OMIM:606889
348	APOE	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:412
348	APOE	HP:0003584	Late onset	7/7	OMIM:603075
348	APOE	HP:0003584	Late onset	-	OMIM:104310
348	APOE	HP:0003581	Adult onset	-	OMIM:607822
348	APOE	HP:0003581	Adult onset	2/2	OMIM:269600
348	APOE	HP:0002221	Absent axillary hair	-	OMIM:269600
348	APOE	HP:0011970	Cerebral amyloid angiopathy	4/4	OMIM:606889
348	APOE	HP:0002395	Lower limb hyperreflexia	-	OMIM:607822
348	APOE	HP:0001013	Eruptive xanthomas	HP:0040282	ORPHA:412
348	APOE	HP:0002354	Memory impairment	-	OMIM:607822
348	APOE	HP:0002354	Memory impairment	2/2	OMIM:606889
348	APOE	HP:0003678	Rapidly progressive	-	OMIM:607822
348	APOE	HP:0003651	Foam cells	2/2	OMIM:269600
348	APOE	HP:0001084	Corneal arcus	HP:0040282	ORPHA:412
348	APOE	HP:0007112	Temporal cortical atrophy	1/1	OMIM:606889
348	APOE	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:412
348	APOE	HP:0004943	Accelerated atherosclerosis	HP:0040283	ORPHA:412
348	APOE	HP:0031868	Optic ataxia	-	OMIM:607822
348	APOE	HP:0001982	Sea-blue histiocytosis	2/2	OMIM:269600
348	APOE	HP:0000608	Macular degeneration	18/20	OMIM:603075
348	APOE	HP:0030499	Macular drusen	10/10	OMIM:603075
348	APOE	HP:0012662	Parietal hypometabolism in FDG PET	-	OMIM:606889
348	APOE	HP:0000660	Lipemia retinalis	HP:0040282	ORPHA:412
348	APOE	HP:0012643	Foveal hypopigmentation	-	OMIM:603075
348	APOE	HP:0001997	Gout	HP:0040283	ORPHA:412
348	APOE	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:269600
348	APOE	HP:0006979	Sleep-wake cycle disturbance	-	OMIM:606889
348	APOE	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:269600
348	APOE	HP:0000751	Personality changes	-	OMIM:607822
348	APOE	HP:0000741	Apathy	1/1	OMIM:606889
348	APOE	HP:0000718	Aggressive behavior	1/2	OMIM:606889
348	APOE	HP:0000726	Dementia	-	OMIM:607822
348	APOE	HP:0000726	Dementia	1/2	OMIM:606889
348	APOE	HP:0000726	Dementia	-	OMIM:104310
348	APOE	HP:0000799	Renal steatosis	HP:0040283	ORPHA:412
348	APOE	HP:0003124	Hypercholesterolemia	HP:0040281	ORPHA:412
348	APOE	HP:0030784	Anomic aphasia	1/2	OMIM:606889
348	APOE	HP:0003141	Increased LDL cholesterol concentration	HP:0040281	ORPHA:412
348	APOE	HP:0011506	Choroidal neovascularization	HP:0040284	OMIM:603075
348	APOE	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:412
348	APOE	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:412
348	APOE	HP:0003233	Decreased HDL cholesterol concentration	HP:0040281	ORPHA:412
348	APOE	HP:0100256	Senile plaques	-	OMIM:606889
348	APOE	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:412
348	APOE	HP:0025574	Macular hemorrhage	HP:0040283	OMIM:603075
348	APOE	HP:0025530	Xanthomas of the palmar creases	HP:0040282	ORPHA:412
348	APOE	HP:0001513	Obesity	HP:0040282	ORPHA:412
348	APOE	HP:0012397	Aortic atherosclerotic lesion	HP:0040283	ORPHA:412
348	APOE	HP:0005181	Premature coronary artery atherosclerosis	HP:0040283	ORPHA:412
348	APOE	HP:0001681	Angina pectoris	HP:0040283	ORPHA:412
348	APOE	HP:0031609	Geographic atrophy	5/10	OMIM:603075
348	APOE	HP:0001735	Acute pancreatitis	HP:0040283	ORPHA:412
348	APOE	HP:0001744	Splenomegaly	2/2	OMIM:269600
348	APOE	HP:0000529	Progressive visual loss	-	OMIM:603075
348	APOE	HP:0012574	Mesangial hypercellularity	-	OMIM:611771
348	APOE	HP:0001873	Thrombocytopenia	2/2	OMIM:269600
351	APP	HP:0002463	Language impairment	HP:0040281	ORPHA:1020
351	APP	HP:0003791	Deposits immunoreactive to beta-amyloid protein	HP:0040281	ORPHA:1020
351	APP	HP:0002423	Long-tract sign	-	OMIM:104300
351	APP	HP:0001297	Stroke	HP:0040281	ORPHA:324713
351	APP	HP:0001297	Stroke	HP:0040281	ORPHA:324703
351	APP	HP:0001297	Stroke	HP:0040281	ORPHA:324708
351	APP	HP:0001297	Stroke	HP:0040281	ORPHA:100006
351	APP	HP:0001297	Stroke	4/4	OMIM:605714
351	APP	HP:0001276	Hypertonia	HP:0040281	ORPHA:1020
351	APP	HP:0001268	Mental deterioration	HP:0040282	ORPHA:324713
351	APP	HP:0001268	Mental deterioration	HP:0040281	ORPHA:100006
351	APP	HP:0001289	Confusion	HP:0040281	ORPHA:1020
351	APP	HP:0001288	Gait disturbance	HP:0040281	ORPHA:324708
351	APP	HP:0001250	Seizure	HP:0040281	ORPHA:1020
351	APP	HP:0001250	Seizure	HP:0040282	ORPHA:324713
351	APP	HP:0001250	Seizure	HP:0040282	ORPHA:100006
351	APP	HP:0001251	Ataxia	HP:0040283	ORPHA:1020
351	APP	HP:0001249	Intellectual disability	HP:0040283	ORPHA:1020
351	APP	HP:0001249	Intellectual disability	HP:0040281	ORPHA:324703
351	APP	HP:0001263	Global developmental delay	HP:0040281	ORPHA:324703
351	APP	HP:0001259	Coma	HP:0040282	ORPHA:324713
351	APP	HP:0001259	Coma	HP:0040281	ORPHA:324703
351	APP	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:100006
351	APP	HP:0002511	Alzheimer disease	-	OMIM:104300
351	APP	HP:0001342	Cerebral hemorrhage	HP:0040281	ORPHA:324713
351	APP	HP:0001342	Cerebral hemorrhage	HP:0040281	ORPHA:324703
351	APP	HP:0001342	Cerebral hemorrhage	HP:0040281	ORPHA:324708
351	APP	HP:0001342	Cerebral hemorrhage	HP:0040281	ORPHA:100006
351	APP	HP:0000006	Autosomal dominant inheritance	-	OMIM:605714
351	APP	HP:0000006	Autosomal dominant inheritance	-	OMIM:104300
351	APP	HP:0001336	Myoclonus	HP:0040281	ORPHA:1020
351	APP	HP:0001336	Myoclonus	HP:0040281	ORPHA:324708
351	APP	HP:0002637	Cerebral ischemia	-	OMIM:605714
351	APP	HP:0001300	Parkinsonism	-	OMIM:104300
351	APP	HP:0001300	Parkinsonism	HP:0040281	ORPHA:1020
351	APP	HP:0410054	Decreased circulating GABA concentration	-	OMIM:104300
351	APP	HP:0002015	Dysphagia	HP:0040281	ORPHA:324708
351	APP	HP:0002076	Migraine	HP:0040281	ORPHA:324713
351	APP	HP:0002076	Migraine	HP:0040282	ORPHA:324703
351	APP	HP:0003474	Somatic sensory dysfunction	HP:0040281	ORPHA:324703
351	APP	HP:0002138	Subarachnoid hemorrhage	1/4	OMIM:605714
351	APP	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1020
351	APP	HP:0002186	Apraxia	HP:0040283	ORPHA:1020
351	APP	HP:0002185	Neurofibrillary tangles	HP:0040281	ORPHA:1020
351	APP	HP:0002185	Neurofibrillary tangles	-	OMIM:104300
351	APP	HP:0010526	Dysgraphia	HP:0040283	ORPHA:1020
351	APP	HP:0010525	Finger agnosia	HP:0040283	ORPHA:1020
351	APP	HP:0003401	Paresthesia	HP:0040281	ORPHA:324703
351	APP	HP:0003401	Paresthesia	1/4	OMIM:605714
351	APP	HP:0003596	Middle age onset	1/4	OMIM:605714
351	APP	HP:0003584	Late onset	3/4	OMIM:605714
351	APP	HP:0003581	Adult onset	-	OMIM:104300
351	APP	HP:0011970	Cerebral amyloid angiopathy	1/1	OMIM:605714
351	APP	HP:0011970	Cerebral amyloid angiopathy	HP:0040282	ORPHA:100006
351	APP	HP:0002381	Aphasia	HP:0040283	ORPHA:1020
351	APP	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040281	ORPHA:324723
351	APP	HP:0002354	Memory impairment	HP:0040281	ORPHA:324708
351	APP	HP:0002354	Memory impairment	HP:0040281	ORPHA:1020
351	APP	HP:0002315	Headache	HP:0040281	ORPHA:100006
351	APP	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:324703
351	APP	HP:0100659	Abnormal cerebral vascular morphology	HP:0040281	ORPHA:324708
351	APP	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:100006
351	APP	HP:0004968	Recurrent cerebral hemorrhage	3/4	OMIM:605714
351	APP	HP:0004938	Tortuous cerebral arteries	-	OMIM:605714
351	APP	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:1020
351	APP	HP:0000738	Hallucinations	HP:0040281	ORPHA:1020
351	APP	HP:0000734	Disinhibition	HP:0040282	ORPHA:1020
351	APP	HP:0000713	Agitation	HP:0040281	ORPHA:1020
351	APP	HP:0000726	Dementia	HP:0040281	ORPHA:1020
351	APP	HP:0000726	Dementia	1/4	OMIM:605714
351	APP	HP:0000726	Dementia	-	OMIM:104300
351	APP	HP:0000726	Dementia	HP:0040282	ORPHA:324713
351	APP	HP:0000726	Dementia	HP:0040281	ORPHA:324703
351	APP	HP:0000726	Dementia	HP:0040281	ORPHA:324708
351	APP	HP:0000726	Dementia	HP:0040281	ORPHA:100006
351	APP	HP:0000708	Atypical behavior	HP:0040281	ORPHA:324723
351	APP	HP:0000708	Atypical behavior	HP:0040282	ORPHA:324703
351	APP	HP:0000708	Atypical behavior	HP:0040281	ORPHA:324708
351	APP	HP:0000708	Atypical behavior	HP:0040281	ORPHA:100006
351	APP	HP:0011446	Abnormality of mental function	HP:0040283	ORPHA:1020
351	APP	HP:0012759	Neurodevelopmental abnormality	HP:0040281	ORPHA:1020
351	APP	HP:0011695	Cerebellar hemorrhage	4/4	OMIM:605714
351	APP	HP:0030219	Semantic dementia	HP:0040283	ORPHA:1020
351	APP	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:1020
351	APP	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1020
353	APRT	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:976
353	APRT	HP:0000083	Renal insufficiency	1/1	OMIM:614723
353	APRT	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:976
353	APRT	HP:0000093	Proteinuria	HP:0040282	ORPHA:976
353	APRT	HP:0000019	Urinary hesitancy	HP:0040283	ORPHA:976
353	APRT	HP:0000016	Urinary retention	HP:0040283	ORPHA:976
353	APRT	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:976
353	APRT	HP:6000803	Elevated urinary 2,8-dihydroxyadenine level	-	OMIM:614723
353	APRT	HP:0000007	Autosomal recessive inheritance	-	OMIM:614723
353	APRT	HP:0002027	Abdominal pain	1/1	OMIM:614723
353	APRT	HP:0100520	Oliguria	1/1	OMIM:614723
353	APRT	HP:0100520	Oliguria	HP:0040283	ORPHA:976
353	APRT	HP:0100518	Dysuria	HP:0040282	ORPHA:976
353	APRT	HP:0011848	Abdominal colic	HP:0040283	ORPHA:976
353	APRT	HP:0003621	Juvenile onset	1/1	OMIM:614723
353	APRT	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:976
353	APRT	HP:0001942	Metabolic acidosis	1/1	OMIM:614723
353	APRT	HP:0001919	Acute kidney injury	HP:0040282	ORPHA:976
353	APRT	HP:0011463	Childhood onset	1/1	OMIM:614723
353	APRT	HP:0000791	Uric acid nephrolithiasis	HP:0040283	ORPHA:976
353	APRT	HP:0000790	Hematuria	2/2	OMIM:614723
353	APRT	HP:0000787	Nephrolithiasis	2/2	OMIM:614723
353	APRT	HP:0000787	Nephrolithiasis	HP:0040282	ORPHA:976
353	APRT	HP:0034279	2,8-dihydroxyadenine crystalluria	1/1	OMIM:614723
353	APRT	HP:0000822	Hypertension	HP:0040282	ORPHA:976
353	APRT	HP:0003259	Elevated circulating creatinine concentration	1/1	OMIM:614723
353	APRT	HP:0034368	Urolithiasis	1/1	OMIM:614723
353	APRT	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:976
353	APRT	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:976
353	APRT	HP:0030157	Flank pain	HP:0040283	ORPHA:976
353	APRT	HP:0012587	Macroscopic hematuria	HP:0040283	ORPHA:976
355	FAS	HP:0009926	Epiphora	HP:0040283	ORPHA:3437
355	FAS	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:117
355	FAS	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:117
355	FAS	HP:0032218	Decreased proportion of CD4-positive T cells	HP:0040283	ORPHA:3261
355	FAS	HP:0100809	Scalp tenderness	HP:0040283	ORPHA:3437
355	FAS	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:117
355	FAS	HP:0100827	Increased total lymphocyte count	HP:0040283	ORPHA:3261
355	FAS	HP:0001269	Hemiparesis	HP:0040282	ORPHA:117
355	FAS	HP:0001287	Meningitis	HP:0040281	ORPHA:117
355	FAS	HP:0001289	Confusion	HP:0040282	ORPHA:117
355	FAS	HP:0001288	Gait disturbance	HP:0040282	ORPHA:117
355	FAS	HP:0001250	Seizure	HP:0040284	ORPHA:3261
355	FAS	HP:0001250	Seizure	HP:0040283	ORPHA:117
355	FAS	HP:0002583	Colitis	HP:0040284	ORPHA:3261
355	FAS	HP:0001251	Ataxia	HP:0040283	ORPHA:117
355	FAS	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:117
355	FAS	HP:6000710	Dalen Fuchs nodules	HP:0040283	ORPHA:3437
355	FAS	HP:0031020	Bone marrow hypercellularity	HP:0040284	ORPHA:3261
355	FAS	HP:0000083	Renal insufficiency	HP:0040284	ORPHA:3261
355	FAS	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:117
355	FAS	HP:0000099	Glomerulonephritis	HP:0040283	ORPHA:3261
355	FAS	HP:0000099	Glomerulonephritis	HP:0040284	ORPHA:117
355	FAS	HP:0025341	Corneal keratic precipitates	HP:0040283	ORPHA:3437
355	FAS	HP:0001369	Arthritis	HP:0040284	ORPHA:3261
355	FAS	HP:0001369	Arthritis	HP:0040281	ORPHA:117
355	FAS	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:117
355	FAS	HP:0000031	Epididymitis	HP:0040283	ORPHA:117
355	FAS	HP:0031179	Nuchal rigidity	HP:0040282	ORPHA:3437
355	FAS	HP:0002671	Basal cell carcinoma	HP:0040284	ORPHA:3261
355	FAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:601859
355	FAS	HP:0002638	Superficial thrombophlebitis	HP:0040282	ORPHA:117
355	FAS	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:117
355	FAS	HP:0002633	Vasculitis	HP:0040283	ORPHA:3261
355	FAS	HP:0002633	Vasculitis	-	OMIM:601859
355	FAS	HP:0002633	Vasculitis	HP:0040281	ORPHA:117
355	FAS	HP:0012190	T-cell lymphoma	HP:0040283	ORPHA:3261
355	FAS	HP:0012191	B-cell lymphoma	HP:0040283	ORPHA:3261
355	FAS	HP:0012189	Hodgkin lymphoma	HP:0040283	ORPHA:3261
355	FAS	HP:0000155	Oral ulcer	HP:0040281	ORPHA:117
355	FAS	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:117
355	FAS	HP:0012115	Hepatitis	HP:0040283	ORPHA:3261
355	FAS	HP:0012121	Panuveitis	HP:0040282	ORPHA:117
355	FAS	HP:0002731	Decreased T cell apoptosis	-	OMIM:601859
355	FAS	HP:0001402	Hepatocellular carcinoma	HP:0040284	ORPHA:3261
355	FAS	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:3261
355	FAS	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:117
355	FAS	HP:0002730	Chronic noninfectious lymphadenopathy	HP:0040281	ORPHA:3261
355	FAS	HP:0002730	Chronic noninfectious lymphadenopathy	-	OMIM:601859
355	FAS	HP:0002729	Follicular hyperplasia	-	OMIM:601859
355	FAS	HP:0002725	Systemic lupus erythematosus	HP:0040284	ORPHA:3261
355	FAS	HP:0002024	Malabsorption	HP:0040283	ORPHA:117
355	FAS	HP:0002018	Nausea	HP:0040283	ORPHA:3437
355	FAS	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:117
355	FAS	HP:0002027	Abdominal pain	HP:0040282	ORPHA:117
355	FAS	HP:0003326	Myalgia	HP:0040281	ORPHA:117
355	FAS	HP:0002014	Diarrhea	HP:0040284	ORPHA:117
355	FAS	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:3437
355	FAS	HP:0033199	Increased circulating interleukin 10 concentration	HP:0040282	ORPHA:3261
355	FAS	HP:0002076	Migraine	HP:0040281	ORPHA:117
355	FAS	HP:0030953	Conjunctival hyperemia	HP:0040282	ORPHA:3437
355	FAS	HP:0002039	Anorexia	HP:0040283	ORPHA:117
355	FAS	HP:0034447	Increased circulating interleukin 18 concentration	HP:0040283	ORPHA:3261
355	FAS	HP:0100584	Endocarditis	HP:0040283	ORPHA:117
355	FAS	HP:0003453	Antineutrophil antibody positivity	HP:0040283	ORPHA:3261
355	FAS	HP:0003453	Antineutrophil antibody positivity	-	OMIM:601859
355	FAS	HP:0003454	Platelet antibody positive	-	OMIM:601859
355	FAS	HP:0002102	Pleuritis	HP:0040283	ORPHA:117
355	FAS	HP:0002113	Pulmonary infiltrates	HP:0040284	ORPHA:3261
355	FAS	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:117
355	FAS	HP:0002105	Hemoptysis	HP:0040283	ORPHA:117
355	FAS	HP:0003496	Increased circulating IgM level	-	OMIM:601859
355	FAS	HP:0003493	Antinuclear antibody positivity	HP:0040283	ORPHA:3261
355	FAS	HP:0003493	Antinuclear antibody positivity	-	OMIM:601859
355	FAS	HP:0008209	Premature ovarian insufficiency	HP:0040284	ORPHA:3261
355	FAS	HP:0003401	Paresthesia	HP:0040283	ORPHA:117
355	FAS	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:3261
355	FAS	HP:0002240	Hepatomegaly	-	OMIM:601859
355	FAS	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:117
355	FAS	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:3437
355	FAS	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:117
355	FAS	HP:0002202	Pleural effusion	HP:0040283	ORPHA:117
355	FAS	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:3437
355	FAS	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:3261
355	FAS	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:117
355	FAS	HP:0010702	Increased circulating immunoglobulin concentration	HP:0040282	ORPHA:3261
355	FAS	HP:0100796	Orchitis	HP:0040281	ORPHA:117
355	FAS	HP:0002290	Poliosis	HP:0040281	ORPHA:3437
355	FAS	HP:0100758	Gangrene	HP:0040283	ORPHA:117
355	FAS	HP:0010619	Fibroadenoma of the breast	HP:0040284	ORPHA:3261
355	FAS	HP:0004844	Coombs-positive hemolytic anemia	HP:0040283	ORPHA:3261
355	FAS	HP:0004844	Coombs-positive hemolytic anemia	-	OMIM:601859
355	FAS	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:117
355	FAS	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:3437
355	FAS	HP:0002381	Aphasia	HP:0040283	ORPHA:3437
355	FAS	HP:0001061	Acne	HP:0040282	ORPHA:117
355	FAS	HP:0001045	Vitiligo	HP:0040281	ORPHA:3437
355	FAS	HP:0002376	Developmental regression	HP:0040283	ORPHA:117
355	FAS	HP:0001025	Urticaria	HP:0040283	ORPHA:3261
355	FAS	HP:0001025	Urticaria	-	OMIM:601859
355	FAS	HP:0002354	Memory impairment	HP:0040283	ORPHA:117
355	FAS	HP:0002321	Vertigo	HP:0040283	ORPHA:3437
355	FAS	HP:0002321	Vertigo	HP:0040283	ORPHA:117
355	FAS	HP:0002315	Headache	HP:0040284	ORPHA:3261
355	FAS	HP:0002315	Headache	HP:0040281	ORPHA:3437
355	FAS	HP:0002315	Headache	HP:0040282	ORPHA:117
355	FAS	HP:0100648	Neoplasm of the tongue	HP:0040284	ORPHA:3261
355	FAS	HP:0100646	Thyroiditis	HP:0040283	ORPHA:3261
355	FAS	HP:0100653	Optic neuritis	HP:0040283	ORPHA:117
355	FAS	HP:0100654	Retrobulbar optic neuritis	HP:0040283	ORPHA:117
355	FAS	HP:0200034	Papule	HP:0040281	ORPHA:117
355	FAS	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:117
355	FAS	HP:0001094	Iridocyclitis	HP:0040282	ORPHA:3437
355	FAS	HP:0100614	Myositis	HP:0040283	ORPHA:117
355	FAS	HP:0200039	Pustule	HP:0040282	ORPHA:117
355	FAS	HP:0020120	Retinal nerve fiber edema	HP:0040282	ORPHA:3437
355	FAS	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:117
355	FAS	HP:0003613	Antiphospholipid antibody positivity	HP:0040283	ORPHA:3261
355	FAS	HP:0003613	Antiphospholipid antibody positivity	-	OMIM:601859
355	FAS	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:117
355	FAS	HP:0005528	Bone marrow hypocellularity	HP:0040284	ORPHA:3261
355	FAS	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:117
355	FAS	HP:4000041	AA amyloidosis	HP:0040283	ORPHA:117
355	FAS	HP:0001971	Hypersplenism	HP:0040282	ORPHA:3261
355	FAS	HP:0001973	Autoimmune thrombocytopenia	HP:0040282	ORPHA:3261
355	FAS	HP:0001973	Autoimmune thrombocytopenia	-	OMIM:601859
355	FAS	HP:0000618	Blindness	HP:0040283	ORPHA:117
355	FAS	HP:0000613	Photophobia	HP:0040283	ORPHA:3437
355	FAS	HP:0000613	Photophobia	HP:0040281	ORPHA:117
355	FAS	HP:0001945	Fever	HP:0040281	ORPHA:117
355	FAS	HP:0001945	Fever	HP:0040283	ORPHA:3437
355	FAS	HP:0001954	Recurrent fever	HP:0040283	ORPHA:117
355	FAS	HP:0000622	Blurred vision	HP:0040282	ORPHA:3437
355	FAS	HP:0001923	Reticulocytosis	HP:0040283	ORPHA:3261
355	FAS	HP:0001904	Autoimmune neutropenia	HP:0040282	ORPHA:3261
355	FAS	HP:0001904	Autoimmune neutropenia	-	OMIM:601859
355	FAS	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:117
355	FAS	HP:0004322	Short stature	HP:0040282	ORPHA:3437
355	FAS	HP:0004315	Decreased circulating IgG concentration	HP:0040283	ORPHA:3261
355	FAS	HP:0000737	Irritability	HP:0040283	ORPHA:117
355	FAS	HP:0000708	Atypical behavior	HP:0040283	ORPHA:117
355	FAS	HP:0011484	Posterior synechiae of the anterior chamber	HP:0040283	ORPHA:3437
355	FAS	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:117
355	FAS	HP:0040126	Abnormal circulating vitamin B12 concentration	HP:0040283	ORPHA:3261
355	FAS	HP:0000854	Thyroid adenoma	HP:0040284	ORPHA:3261
355	FAS	HP:0100326	Immunologic hypersensitivity	HP:0040282	ORPHA:117
355	FAS	HP:0012819	Myocarditis	HP:0040283	ORPHA:117
355	FAS	HP:0040030	Chorioretinal hypopigmentation	HP:0040282	ORPHA:3437
355	FAS	HP:0003237	Increased circulating IgG concentration	HP:0040282	ORPHA:3261
355	FAS	HP:0003237	Increased circulating IgG concentration	-	OMIM:601859
355	FAS	HP:0003212	Increased circulating IgE concentration	HP:0040283	ORPHA:3261
355	FAS	HP:0030886	Abnormal T cell apoptosis	HP:0040282	ORPHA:3261
355	FAS	HP:6000016	Elevated circulating vitamin B12 concentration	HP:0040283	ORPHA:3261
355	FAS	HP:6000017	Elevated circulating soluble FASL concentration	HP:0040283	ORPHA:3261
355	FAS	HP:0003249	Genital ulcers	HP:0040282	ORPHA:117
355	FAS	HP:0003262	Anti-smooth muscle antibody positivity	-	OMIM:601859
355	FAS	HP:0003261	Increased circulating IgA concentration	HP:0040283	ORPHA:3261
355	FAS	HP:0003261	Increased circulating IgA concentration	-	OMIM:601859
355	FAS	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:3261
355	FAS	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:117
355	FAS	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:3261
355	FAS	HP:0001596	Alopecia	HP:0040283	ORPHA:3437
355	FAS	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:3437
355	FAS	HP:0031392	Abnormal CD4+ T cell subset proportion	HP:0040283	ORPHA:3261
355	FAS	HP:0031393	Abnormal CD8+ T cell proportion	HP:0040283	ORPHA:3261
355	FAS	HP:0002829	Arthralgia	HP:0040282	ORPHA:117
355	FAS	HP:0030080	Burkitt lymphoma	HP:0040283	ORPHA:3261
355	FAS	HP:0012229	CSF pleocytosis	HP:0040281	ORPHA:3437
355	FAS	HP:0025532	Positive pathergy test	HP:0040282	ORPHA:117
355	FAS	HP:0012219	Erythema nodosum	HP:0040282	ORPHA:117
355	FAS	HP:0002890	Thyroid carcinoma	HP:0040284	ORPHA:3261
355	FAS	HP:0002853	Increased HLA DR+ CD4+ T cell proportion	-	OMIM:601859
355	FAS	HP:0002850	Decreased circulating total IgM	HP:0040283	ORPHA:3261
355	FAS	HP:0002851	Elevated double-negative T cell proportion	HP:0040282	ORPHA:3261
355	FAS	HP:0002851	Elevated double-negative T cell proportion	-	OMIM:601859
355	FAS	HP:0002848	Decreased specific anti-polysaccharide antibody level	HP:0040283	ORPHA:3261
355	FAS	HP:0007813	Nongranulomatous uveitis	HP:0040282	ORPHA:117
355	FAS	HP:0012378	Fatigue	HP:0040281	ORPHA:117
355	FAS	HP:0005263	Gastritis	HP:0040284	ORPHA:3261
355	FAS	HP:0002923	Rheumatoid factor positive	HP:0040283	ORPHA:3261
355	FAS	HP:0002923	Rheumatoid factor positive	-	OMIM:601859
355	FAS	HP:0000360	Tinnitus	HP:0040282	ORPHA:3437
355	FAS	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:117
355	FAS	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:117
355	FAS	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:117
355	FAS	HP:0002960	Autoimmunity	HP:0040281	ORPHA:3261
355	FAS	HP:0002972	Reduced delayed hypersensitivity	-	OMIM:601859
355	FAS	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:117
355	FAS	HP:0007906	Ocular hypertension	HP:0040282	ORPHA:3437
355	FAS	HP:0012490	Panniculitis	HP:0040284	ORPHA:3261
355	FAS	HP:0000499	Abnormal eyelash morphology	HP:0040281	ORPHA:3437
355	FAS	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:3437
355	FAS	HP:0001733	Pancreatitis	HP:0040283	ORPHA:117
355	FAS	HP:0001701	Pericarditis	HP:0040283	ORPHA:117
355	FAS	HP:0000488	Retinopathy	HP:0040283	ORPHA:117
355	FAS	HP:0011117	Abnormal circulating interleukin concentration	HP:0040282	ORPHA:3261
355	FAS	HP:0001789	Hydrops fetalis	HP:0040284	ORPHA:3261
355	FAS	HP:0011107	Recurrent aphthous stomatitis	HP:0040284	ORPHA:3261
355	FAS	HP:0011107	Recurrent aphthous stomatitis	HP:0040281	ORPHA:117
355	FAS	HP:0001744	Splenomegaly	HP:0040283	ORPHA:117
355	FAS	HP:0001744	Splenomegaly	HP:0040281	ORPHA:3261
355	FAS	HP:0001744	Splenomegaly	-	OMIM:601859
355	FAS	HP:0005404	Increased total B cell count	HP:0040282	ORPHA:3261
355	FAS	HP:0000518	Cataract	HP:0040283	ORPHA:117
355	FAS	HP:0000518	Cataract	HP:0040282	ORPHA:3437
355	FAS	HP:0001824	Weight loss	HP:0040283	ORPHA:117
355	FAS	HP:0000505	Visual impairment	HP:0040282	ORPHA:3437
355	FAS	HP:0000501	Glaucoma	HP:0040283	ORPHA:3437
355	FAS	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:117
355	FAS	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:3261
355	FAS	HP:0001891	Iron deficiency anemia	-	OMIM:601859
355	FAS	HP:0001890	Autoimmune hemolytic anemia	HP:0040282	ORPHA:3261
355	FAS	HP:0001890	Autoimmune hemolytic anemia	-	OMIM:601859
355	FAS	HP:0001888	Decreased total lymphocyte count	HP:0040283	ORPHA:3261
355	FAS	HP:0000554	Uveitis	HP:0040284	ORPHA:3261
355	FAS	HP:0000554	Uveitis	HP:0040282	ORPHA:3437
355	FAS	HP:0012539	Non-Hodgkin lymphoma	HP:0040283	ORPHA:3261
355	FAS	HP:0000541	Retinal detachment	HP:0040282	ORPHA:3437
355	FAS	HP:0000534	Abnormal eyebrow morphology	HP:0040281	ORPHA:3437
355	FAS	HP:0001880	Increased total eosinophil count	HP:0040283	ORPHA:3261
355	FAS	HP:0001880	Increased total eosinophil count	-	OMIM:601859
356	FASLG	HP:0032218	Decreased proportion of CD4-positive T cells	HP:0040283	ORPHA:3261
356	FASLG	HP:0100827	Increased total lymphocyte count	HP:0040283	ORPHA:3261
356	FASLG	HP:0001250	Seizure	HP:0040284	ORPHA:3261
356	FASLG	HP:0002583	Colitis	HP:0040284	ORPHA:3261
356	FASLG	HP:0031020	Bone marrow hypercellularity	HP:0040284	ORPHA:3261
356	FASLG	HP:0000083	Renal insufficiency	HP:0040284	ORPHA:3261
356	FASLG	HP:0000099	Glomerulonephritis	HP:0040283	ORPHA:3261
356	FASLG	HP:0001369	Arthritis	HP:0040284	ORPHA:3261
356	FASLG	HP:0002671	Basal cell carcinoma	HP:0040284	ORPHA:3261
356	FASLG	HP:0000006	Autosomal dominant inheritance	-	OMIM:211980
356	FASLG	HP:0000006	Autosomal dominant inheritance	-	OMIM:601859
356	FASLG	HP:0002633	Vasculitis	HP:0040283	ORPHA:3261
356	FASLG	HP:0002633	Vasculitis	-	OMIM:601859
356	FASLG	HP:0012190	T-cell lymphoma	HP:0040283	ORPHA:3261
356	FASLG	HP:0012191	B-cell lymphoma	HP:0040283	ORPHA:3261
356	FASLG	HP:0012189	Hodgkin lymphoma	HP:0040283	ORPHA:3261
356	FASLG	HP:0012115	Hepatitis	HP:0040283	ORPHA:3261
356	FASLG	HP:0001442	Typified by somatic mosaicism	-	OMIM:211980
356	FASLG	HP:0002731	Decreased T cell apoptosis	-	OMIM:601859
356	FASLG	HP:0001402	Hepatocellular carcinoma	HP:0040284	ORPHA:3261
356	FASLG	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:3261
356	FASLG	HP:0002730	Chronic noninfectious lymphadenopathy	HP:0040281	ORPHA:3261
356	FASLG	HP:0002730	Chronic noninfectious lymphadenopathy	-	OMIM:601859
356	FASLG	HP:0002729	Follicular hyperplasia	-	OMIM:601859
356	FASLG	HP:0002725	Systemic lupus erythematosus	HP:0040284	ORPHA:3261
356	FASLG	HP:0033199	Increased circulating interleukin 10 concentration	HP:0040282	ORPHA:3261
356	FASLG	HP:0034447	Increased circulating interleukin 18 concentration	HP:0040283	ORPHA:3261
356	FASLG	HP:0003453	Antineutrophil antibody positivity	HP:0040283	ORPHA:3261
356	FASLG	HP:0003453	Antineutrophil antibody positivity	-	OMIM:601859
356	FASLG	HP:0003454	Platelet antibody positive	-	OMIM:601859
356	FASLG	HP:0002113	Pulmonary infiltrates	HP:0040284	ORPHA:3261
356	FASLG	HP:0003496	Increased circulating IgM level	-	OMIM:601859
356	FASLG	HP:0003493	Antinuclear antibody positivity	HP:0040283	ORPHA:3261
356	FASLG	HP:0003493	Antinuclear antibody positivity	-	OMIM:601859
356	FASLG	HP:0008209	Premature ovarian insufficiency	HP:0040284	ORPHA:3261
356	FASLG	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:3261
356	FASLG	HP:0002240	Hepatomegaly	-	OMIM:601859
356	FASLG	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:3261
356	FASLG	HP:0010702	Increased circulating immunoglobulin concentration	HP:0040282	ORPHA:3261
356	FASLG	HP:0010619	Fibroadenoma of the breast	HP:0040284	ORPHA:3261
356	FASLG	HP:0004844	Coombs-positive hemolytic anemia	HP:0040283	ORPHA:3261
356	FASLG	HP:0004844	Coombs-positive hemolytic anemia	-	OMIM:601859
356	FASLG	HP:0001025	Urticaria	HP:0040283	ORPHA:3261
356	FASLG	HP:0001025	Urticaria	-	OMIM:601859
356	FASLG	HP:0002315	Headache	HP:0040284	ORPHA:3261
356	FASLG	HP:0100648	Neoplasm of the tongue	HP:0040284	ORPHA:3261
356	FASLG	HP:0100646	Thyroiditis	HP:0040283	ORPHA:3261
356	FASLG	HP:0003613	Antiphospholipid antibody positivity	HP:0040283	ORPHA:3261
356	FASLG	HP:0003613	Antiphospholipid antibody positivity	-	OMIM:601859
356	FASLG	HP:0005528	Bone marrow hypocellularity	HP:0040284	ORPHA:3261
356	FASLG	HP:0001971	Hypersplenism	HP:0040282	ORPHA:3261
356	FASLG	HP:0001973	Autoimmune thrombocytopenia	HP:0040282	ORPHA:3261
356	FASLG	HP:0001973	Autoimmune thrombocytopenia	-	OMIM:601859
356	FASLG	HP:0001923	Reticulocytosis	HP:0040283	ORPHA:3261
356	FASLG	HP:0001904	Autoimmune neutropenia	HP:0040282	ORPHA:3261
356	FASLG	HP:0001904	Autoimmune neutropenia	-	OMIM:601859
356	FASLG	HP:0004315	Decreased circulating IgG concentration	HP:0040283	ORPHA:3261
356	FASLG	HP:0040126	Abnormal circulating vitamin B12 concentration	HP:0040283	ORPHA:3261
356	FASLG	HP:0000854	Thyroid adenoma	HP:0040284	ORPHA:3261
356	FASLG	HP:0003237	Increased circulating IgG concentration	HP:0040282	ORPHA:3261
356	FASLG	HP:0003237	Increased circulating IgG concentration	-	OMIM:601859
356	FASLG	HP:0003212	Increased circulating IgE concentration	HP:0040283	ORPHA:3261
356	FASLG	HP:0030886	Abnormal T cell apoptosis	HP:0040282	ORPHA:3261
356	FASLG	HP:6000016	Elevated circulating vitamin B12 concentration	HP:0040283	ORPHA:3261
356	FASLG	HP:6000017	Elevated circulating soluble FASL concentration	HP:0040283	ORPHA:3261
356	FASLG	HP:0003262	Anti-smooth muscle antibody positivity	-	OMIM:601859
356	FASLG	HP:0003261	Increased circulating IgA concentration	HP:0040283	ORPHA:3261
356	FASLG	HP:0003261	Increased circulating IgA concentration	-	OMIM:601859
356	FASLG	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:3261
356	FASLG	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:3261
356	FASLG	HP:0031392	Abnormal CD4+ T cell subset proportion	HP:0040283	ORPHA:3261
356	FASLG	HP:0031393	Abnormal CD8+ T cell proportion	HP:0040283	ORPHA:3261
356	FASLG	HP:0030078	Lung adenocarcinoma	-	OMIM:211980
356	FASLG	HP:0030080	Burkitt lymphoma	HP:0040283	ORPHA:3261
356	FASLG	HP:0002890	Thyroid carcinoma	HP:0040284	ORPHA:3261
356	FASLG	HP:0002853	Increased HLA DR+ CD4+ T cell proportion	-	OMIM:601859
356	FASLG	HP:0002850	Decreased circulating total IgM	HP:0040283	ORPHA:3261
356	FASLG	HP:0002851	Elevated double-negative T cell proportion	HP:0040282	ORPHA:3261
356	FASLG	HP:0002851	Elevated double-negative T cell proportion	-	OMIM:601859
356	FASLG	HP:0002848	Decreased specific anti-polysaccharide antibody level	HP:0040283	ORPHA:3261
356	FASLG	HP:0005263	Gastritis	HP:0040284	ORPHA:3261
356	FASLG	HP:0006519	Alveolar cell carcinoma	-	OMIM:211980
356	FASLG	HP:0002923	Rheumatoid factor positive	HP:0040283	ORPHA:3261
356	FASLG	HP:0002923	Rheumatoid factor positive	-	OMIM:601859
356	FASLG	HP:0002960	Autoimmunity	HP:0040281	ORPHA:3261
356	FASLG	HP:0002972	Reduced delayed hypersensitivity	-	OMIM:601859
356	FASLG	HP:0012490	Panniculitis	HP:0040284	ORPHA:3261
356	FASLG	HP:0011117	Abnormal circulating interleukin concentration	HP:0040282	ORPHA:3261
356	FASLG	HP:0001789	Hydrops fetalis	HP:0040284	ORPHA:3261
356	FASLG	HP:0011107	Recurrent aphthous stomatitis	HP:0040284	ORPHA:3261
356	FASLG	HP:0001744	Splenomegaly	HP:0040281	ORPHA:3261
356	FASLG	HP:0001744	Splenomegaly	-	OMIM:601859
356	FASLG	HP:0005404	Increased total B cell count	HP:0040282	ORPHA:3261
356	FASLG	HP:0030358	Non-small cell lung carcinoma	-	OMIM:211980
356	FASLG	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:3261
356	FASLG	HP:0001891	Iron deficiency anemia	-	OMIM:601859
356	FASLG	HP:0001890	Autoimmune hemolytic anemia	HP:0040282	ORPHA:3261
356	FASLG	HP:0001890	Autoimmune hemolytic anemia	-	OMIM:601859
356	FASLG	HP:0001888	Decreased total lymphocyte count	HP:0040283	ORPHA:3261
356	FASLG	HP:0000554	Uveitis	HP:0040284	ORPHA:3261
356	FASLG	HP:0012539	Non-Hodgkin lymphoma	HP:0040283	ORPHA:3261
356	FASLG	HP:0001880	Increased total eosinophil count	HP:0040283	ORPHA:3261
356	FASLG	HP:0001880	Increased total eosinophil count	-	OMIM:601859
359	AQP2	HP:0001250	Seizure	HP:0040283	ORPHA:223
359	AQP2	HP:0001250	Seizure	-	OMIM:125800
359	AQP2	HP:0001249	Intellectual disability	-	OMIM:125800
359	AQP2	HP:0001263	Global developmental delay	HP:0040284	ORPHA:223
359	AQP2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:223
359	AQP2	HP:0000072	Hydroureter	HP:0040283	ORPHA:223
359	AQP2	HP:0000021	Megacystis	-	OMIM:125800
359	AQP2	HP:0008872	Feeding difficulties in infancy	-	OMIM:125800
359	AQP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:125800
359	AQP2	HP:0000009	Functional abnormality of the bladder	HP:0040283	ORPHA:223
359	AQP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:125800
359	AQP2	HP:0000103	Polyuria	3/3	OMIM:125800
359	AQP2	HP:0002019	Constipation	HP:0040282	ORPHA:223
359	AQP2	HP:0002019	Constipation	-	OMIM:125800
359	AQP2	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:223
359	AQP2	HP:0002013	Vomiting	-	OMIM:125800
359	AQP2	HP:0002039	Anorexia	HP:0040282	ORPHA:223
359	AQP2	HP:0010677	Enuresis nocturna	HP:0040284	ORPHA:223
359	AQP2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:223
359	AQP2	HP:0009806	Nephrogenic diabetes insipidus	-	OMIM:125800
359	AQP2	HP:0009806	Nephrogenic diabetes insipidus	HP:0040280	ORPHA:223
359	AQP2	HP:0003623	Neonatal onset	-	OMIM:125800
359	AQP2	HP:0004906	Hypernatremic dehydration	HP:0040281	ORPHA:223
359	AQP2	HP:0001945	Fever	HP:0040282	ORPHA:223
359	AQP2	HP:0001959	Polydipsia	3/3	OMIM:125800
359	AQP2	HP:0001959	Polydipsia	HP:0040282	ORPHA:223
359	AQP2	HP:0001955	Unexplained fevers	-	OMIM:125800
359	AQP2	HP:0001986	Hypertonic dehydration	-	OMIM:125800
359	AQP2	HP:0004322	Short stature	HP:0040283	ORPHA:223
359	AQP2	HP:0004322	Short stature	-	OMIM:125800
359	AQP2	HP:0000737	Irritability	-	OMIM:125800
359	AQP2	HP:0003158	Hyposthenuria	HP:0040281	ORPHA:223
359	AQP2	HP:0003228	Hypernatremia	HP:0040281	ORPHA:223
359	AQP2	HP:0003228	Hypernatremia	3/3	OMIM:125800
359	AQP2	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:223
359	AQP2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:223
359	AQP2	HP:0001508	Failure to thrive	-	OMIM:125800
359	AQP2	HP:0001510	Growth delay	HP:0040283	ORPHA:223
359	AQP2	HP:0011106	Hypovolemia	HP:0040283	ORPHA:223
361	AQP4	HP:0001250	Seizure	2/2	OMIM:620448
361	AQP4	HP:0001249	Intellectual disability	2/2	OMIM:620448
361	AQP4	HP:0001260	Dysarthria	1/2	OMIM:620448
361	AQP4	HP:0001263	Global developmental delay	2/2	OMIM:620448
361	AQP4	HP:0001257	Spasticity	0/2	OMIM:620448
361	AQP4	HP:0001332	Dystonia	1/2	OMIM:620448
361	AQP4	HP:0000006	Autosomal dominant inheritance	-	OMIM:620448
361	AQP4	HP:0002015	Dysphagia	0/2	OMIM:620448
361	AQP4	HP:0002066	Gait ataxia	0/2	OMIM:620448
361	AQP4	HP:0002063	Rigidity	1/2	OMIM:620448
361	AQP4	HP:0002133	Status epilepticus	1/2	OMIM:620448
361	AQP4	HP:0003593	Infantile onset	2/2	OMIM:620448
361	AQP4	HP:0100710	Impulsivity	2/2	OMIM:620448
361	AQP4	HP:6000461	Cerebral subcortical cyst	2/2	OMIM:620448
361	AQP4	HP:0002312	Clumsiness	2/2	OMIM:620448
361	AQP4	HP:0000752	Hyperactivity	2/2	OMIM:620448
361	AQP4	HP:0000256	Macrocephaly	2/2	OMIM:620448
362	AQP5	HP:0032259	Chronic tinea infection	HP:0040282	ORPHA:2337
362	AQP5	HP:0007447	Diffuse palmoplantar hyperkeratosis	-	OMIM:600231
362	AQP5	HP:0007447	Diffuse palmoplantar hyperkeratosis	HP:0040281	ORPHA:2337
362	AQP5	HP:0000006	Autosomal dominant inheritance	-	OMIM:600231
362	AQP5	HP:0032541	Knuckle pad	HP:0040282	ORPHA:2337
362	AQP5	HP:0200034	Papule	HP:0040282	ORPHA:2337
362	AQP5	HP:0200042	Skin ulcer	HP:0040282	ORPHA:2337
362	AQP5	HP:0010783	Erythema	HP:0040282	ORPHA:2337
362	AQP5	HP:0011463	Childhood onset	-	OMIM:600231
362	AQP5	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:2337
362	AQP5	HP:0000989	Pruritus	HP:0040282	ORPHA:2337
362	AQP5	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:2337
362	AQP5	HP:0001807	Ridged nail	HP:0040283	ORPHA:2337
367	AR	HP:0025132	Abnormal circulating estrogen level	HP:0040282	ORPHA:90797
367	AR	HP:0025134	Increased serum estradiol	HP:0040283	ORPHA:90797
367	AR	HP:0025134	Increased serum estradiol	HP:0040281	ORPHA:99429
367	AR	HP:0008655	Aplasia/Hypoplasia of the fallopian tube	HP:0040281	ORPHA:99429
367	AR	HP:0009888	Abnormality of secondary sexual hair	HP:0040283	ORPHA:90797
367	AR	HP:0001288	Gait disturbance	HP:0040281	ORPHA:481
367	AR	HP:0001283	Bulbar palsy	-	OMIM:313200
367	AR	HP:0001252	Hypotonia	HP:0040281	ORPHA:481
367	AR	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:481
367	AR	HP:0001265	Hyporeflexia	-	OMIM:313200
367	AR	HP:0001260	Dysarthria	HP:0040281	ORPHA:481
367	AR	HP:0001260	Dysarthria	-	OMIM:313200
367	AR	HP:0002555	Absent pubic hair	HP:0040282	ORPHA:99429
367	AR	HP:0008730	Female external genitalia in individual with 46,XY karyotype	-	OMIM:300068
367	AR	HP:0008730	Female external genitalia in individual with 46,XY karyotype	HP:0040281	ORPHA:99429
367	AR	HP:0008722	Urethral diverticulum	HP:0040284	ORPHA:95706
367	AR	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:90797
367	AR	HP:0008689	Bilateral cryptorchidism	HP:0040281	ORPHA:99429
367	AR	HP:0008665	Clitoral hypertrophy	HP:0040283	ORPHA:90797
367	AR	HP:0002550	Absent facial hair	-	OMIM:300068
367	AR	HP:0000098	Tall stature	HP:0040281	ORPHA:99429
367	AR	HP:0000066	Labial hypoplasia	-	OMIM:300068
367	AR	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:90797
367	AR	HP:0000037	Male pseudohermaphroditism	-	OMIM:312300
367	AR	HP:0000054	Micropenis	HP:0040283	ORPHA:90797
367	AR	HP:0000054	Micropenis	-	OMIM:312300
367	AR	HP:0000054	Micropenis	HP:0040283	ORPHA:95706
367	AR	HP:0000051	Perineal hypospadias	2/2	OMIM:300633
367	AR	HP:0000051	Perineal hypospadias	HP:0040283	ORPHA:90797
367	AR	HP:0000051	Perineal hypospadias	5/5	OMIM:312300
367	AR	HP:0000048	Bifid scrotum	-	OMIM:312300
367	AR	HP:0000048	Bifid scrotum	HP:0040283	ORPHA:90797
367	AR	HP:0000048	Bifid scrotum	HP:0040283	ORPHA:95706
367	AR	HP:0000047	Hypospadias	HP:0040282	ORPHA:90797
367	AR	HP:0000023	Inguinal hernia	-	OMIM:300068
367	AR	HP:0000029	Testicular atrophy	HP:0040283	ORPHA:481
367	AR	HP:0000029	Testicular atrophy	-	OMIM:313200
367	AR	HP:0000028	Cryptorchidism	5/5	OMIM:312300
367	AR	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:95706
367	AR	HP:0000027	Azoospermia	-	OMIM:312300
367	AR	HP:0000027	Azoospermia	HP:0040283	ORPHA:90797
367	AR	HP:0002664	Neoplasm	-	OMIM:300068
367	AR	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040281	ORPHA:99429
367	AR	HP:0001337	Tremor	-	OMIM:313200
367	AR	HP:0031102	Increased circulating antimullerian hormone concentration	HP:0040281	ORPHA:90797
367	AR	HP:0031102	Increased circulating antimullerian hormone concentration	HP:0040282	ORPHA:99429
367	AR	HP:0025486	Fused labia majora	HP:0040283	ORPHA:90797
367	AR	HP:0000175	Cleft palate	HP:0040283	ORPHA:95706
367	AR	HP:0000144	Decreased fertility	HP:0040281	ORPHA:481
367	AR	HP:0000144	Decreased fertility	-	OMIM:313200
367	AR	HP:0012125	Prostate cancer	-	OMIM:301120
367	AR	HP:0000135	Hypogonadism	-	OMIM:312300
367	AR	HP:0000153	Abnormality of the mouth	-	OMIM:313200
367	AR	HP:0000151	Aplasia of the uterus	HP:0040281	ORPHA:90797
367	AR	HP:0000151	Aplasia of the uterus	HP:0040281	ORPHA:99429
367	AR	HP:0008981	Calf muscle hypertrophy	-	OMIM:313200
367	AR	HP:0001419	X-linked recessive inheritance	-	OMIM:312300
367	AR	HP:0001419	X-linked recessive inheritance	-	OMIM:300633
367	AR	HP:0001419	X-linked recessive inheritance	-	OMIM:300068
367	AR	HP:0001419	X-linked recessive inheritance	-	OMIM:313200
367	AR	HP:0001417	X-linked inheritance	-	OMIM:301120
367	AR	HP:0002023	Anal atresia	HP:0040283	ORPHA:95706
367	AR	HP:0002032	Esophageal atresia	HP:0040283	ORPHA:95706
367	AR	HP:0040307	Male sexual dysfunction	HP:0040281	ORPHA:90797
367	AR	HP:0040314	Blind vagina	HP:0040283	ORPHA:90797
367	AR	HP:0040314	Blind vagina	-	OMIM:300068
367	AR	HP:0040314	Blind vagina	HP:0040281	ORPHA:99429
367	AR	HP:0002015	Dysphagia	-	OMIM:313200
367	AR	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:481
367	AR	HP:0003394	Muscle spasm	-	OMIM:313200
367	AR	HP:0008189	Insulin insensitivity	HP:0040283	ORPHA:90797
367	AR	HP:0010463	Aplasia of the ovary	HP:0040281	ORPHA:90797
367	AR	HP:0008232	Elevated circulating follicle stimulating hormone level	-	OMIM:300068
367	AR	HP:0008226	Androgen insufficiency	HP:0040283	ORPHA:95706
367	AR	HP:0003577	Congenital onset	2/2	OMIM:300633
367	AR	HP:0003581	Adult onset	-	OMIM:313200
367	AR	HP:0002221	Absent axillary hair	HP:0040282	ORPHA:99429
367	AR	HP:0002215	Sparse axillary hair	-	OMIM:300068
367	AR	HP:0002215	Sparse axillary hair	HP:0040282	ORPHA:99429
367	AR	HP:0002225	Sparse pubic hair	-	OMIM:300068
367	AR	HP:0002225	Sparse pubic hair	HP:0040282	ORPHA:99429
367	AR	HP:0100779	Urogenital sinus anomaly	HP:0040283	ORPHA:90797
367	AR	HP:0100728	Germ cell neoplasia	HP:0040283	ORPHA:90797
367	AR	HP:0100728	Germ cell neoplasia	HP:0040284	ORPHA:99429
367	AR	HP:0011969	Elevated circulating luteinizing hormone level	-	OMIM:300068
367	AR	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040281	ORPHA:90797
367	AR	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040281	ORPHA:99429
367	AR	HP:0002380	Fasciculations	-	OMIM:313200
367	AR	HP:0001061	Acne	HP:0040284	ORPHA:99429
367	AR	HP:0003690	Limb muscle weakness	-	OMIM:313200
367	AR	HP:0003677	Slowly progressive	-	OMIM:313200
367	AR	HP:0009830	Peripheral neuropathy	-	OMIM:313200
367	AR	HP:0100627	Displacement of the urethral meatus	HP:0040281	ORPHA:95706
367	AR	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:481
367	AR	HP:0010788	Testicular neoplasm	HP:0040283	ORPHA:99429
367	AR	HP:0000771	Gynecomastia	HP:0040282	ORPHA:90797
367	AR	HP:0000771	Gynecomastia	-	OMIM:300068
367	AR	HP:0000771	Gynecomastia	-	OMIM:312300
367	AR	HP:0000771	Gynecomastia	HP:0040281	ORPHA:481
367	AR	HP:0000771	Gynecomastia	-	OMIM:313200
367	AR	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:481
367	AR	HP:0000763	Sensory neuropathy	-	OMIM:313200
367	AR	HP:0000739	Anxiety	HP:0040283	ORPHA:95706
367	AR	HP:0000716	Depression	HP:0040283	ORPHA:95706
367	AR	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:95706
367	AR	HP:0000789	Infertility	-	OMIM:312300
367	AR	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:90797
367	AR	HP:0000786	Primary amenorrhea	-	OMIM:300068
367	AR	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:99429
367	AR	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:481
367	AR	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:95706
367	AR	HP:0000823	Delayed puberty	HP:0040282	ORPHA:99429
367	AR	HP:0012888	Abnormal uterine cervix morphology	HP:0040281	ORPHA:99429
367	AR	HP:0012873	Absent vas deferens	-	OMIM:312300
367	AR	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:313200
367	AR	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:481
367	AR	HP:0003251	Male infertility	HP:0040281	ORPHA:90797
367	AR	HP:0003251	Male infertility	HP:0040281	ORPHA:99429
367	AR	HP:0030088	Increased serum testosterone level	HP:0040281	ORPHA:90797
367	AR	HP:0030088	Increased serum testosterone level	HP:0040281	ORPHA:99429
367	AR	HP:0001547	Abnormal rib cage morphology	-	OMIM:312300
367	AR	HP:0001539	Omphalocele	HP:0040283	ORPHA:95706
367	AR	HP:0001507	Growth abnormality	-	OMIM:300068
367	AR	HP:0001518	Small for gestational age	HP:0040284	ORPHA:95706
367	AR	HP:0001618	Dysphonia	HP:0040281	ORPHA:481
367	AR	HP:0001620	Abnormally high-pitched voice	HP:0040283	ORPHA:90797
367	AR	HP:0012435	Ventral shortening of foreskin	HP:0040282	ORPHA:95706
367	AR	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	HP:0040284	ORPHA:99429
368	ABCC6	HP:0025116	Fetal distress	HP:0040282	ORPHA:51608
368	ABCC6	HP:0025116	Fetal distress	1/1	OMIM:208000
368	ABCC6	HP:0025115	Civatte bodies	HP:0040284	OMIM:264800
368	ABCC6	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
368	ABCC6	HP:0025169	Left ventricular systolic dysfunction	HP:0040282	ORPHA:51608
368	ABCC6	HP:0001102	Angioid streaks of the fundus	HP:0040281	ORPHA:758
368	ABCC6	HP:0001102	Angioid streaks of the fundus	-	OMIM:177850
368	ABCC6	HP:0001102	Angioid streaks of the fundus	38/40	OMIM:264800
368	ABCC6	HP:0001102	Angioid streaks of the fundus	HP:0040284	ORPHA:51608
368	ABCC6	HP:0001297	Stroke	HP:0040284	ORPHA:51608
368	ABCC6	HP:0001297	Stroke	3/67	OMIM:264800
368	ABCC6	HP:0001297	Stroke	HP:0040283	ORPHA:758
368	ABCC6	HP:0100817	Renovascular hypertension	HP:0040283	ORPHA:758
368	ABCC6	HP:0100817	Renovascular hypertension	HP:0040283	OMIM:264800
368	ABCC6	HP:0001250	Seizure	HP:0040284	ORPHA:51608
368	ABCC6	HP:0007392	Excessive wrinkled skin	HP:0040281	ORPHA:758
368	ABCC6	HP:0002514	Cerebral calcification	HP:0040284	ORPHA:51608
368	ABCC6	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:758
368	ABCC6	HP:0003836	Stippled calcification of the shoulder	HP:0040283	ORPHA:51608
368	ABCC6	HP:0031013	Ankylosis	-	OMIM:208000
368	ABCC6	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:758
368	ABCC6	HP:0001384	Abnormal hip joint morphology	HP:0040283	ORPHA:51608
368	ABCC6	HP:0001342	Cerebral hemorrhage	-	OMIM:177850
368	ABCC6	HP:0000007	Autosomal recessive inheritance	-	OMIM:264800
368	ABCC6	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
368	ABCC6	HP:0000007	Autosomal recessive inheritance	-	OMIM:208000
368	ABCC6	HP:0000007	Autosomal recessive inheritance	-	OMIM:614473
368	ABCC6	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
368	ABCC6	HP:0000006	Autosomal dominant inheritance	-	OMIM:177850
368	ABCC6	HP:0002634	Arteriosclerosis	-	OMIM:177850
368	ABCC6	HP:0002650	Scoliosis	-	OMIM:177850
368	ABCC6	HP:0002647	Aortic dissection	HP:0040284	ORPHA:51608
368	ABCC6	HP:0002643	Neonatal respiratory distress	1/2	OMIM:208000
368	ABCC6	HP:0003941	Stippled calcification of the elbow	HP:0040283	ORPHA:51608
368	ABCC6	HP:0025473	Hyperpigmented papule	HP:0040282	ORPHA:758
368	ABCC6	HP:0025477	Periarticular calcification	HP:0040282	ORPHA:51608
368	ABCC6	HP:0025477	Periarticular calcification	1/1	OMIM:208000
368	ABCC6	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:758
368	ABCC6	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
368	ABCC6	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
368	ABCC6	HP:0007663	Reduced visual acuity	-	OMIM:177850
368	ABCC6	HP:0007663	Reduced visual acuity	50/195	OMIM:264800
368	ABCC6	HP:0002705	High, narrow palate	-	OMIM:177850
368	ABCC6	HP:0000121	Nephrocalcinosis	HP:0040282	ORPHA:51608
368	ABCC6	HP:0000121	Nephrocalcinosis	HP:0040283	OMIM:614473
368	ABCC6	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:758
368	ABCC6	HP:0032553	Weak pulse	1/16	OMIM:264800
368	ABCC6	HP:0032553	Weak pulse	HP:0040283	ORPHA:51608
368	ABCC6	HP:0002749	Osteomalacia	HP:0040282	ORPHA:51608
368	ABCC6	HP:0002013	Vomiting	HP:0040283	ORPHA:51608
368	ABCC6	HP:0100545	Arterial stenosis	-	OMIM:208000
368	ABCC6	HP:0100545	Arterial stenosis	HP:0040281	ORPHA:758
368	ABCC6	HP:0002098	Respiratory distress	HP:0040282	ORPHA:51608
368	ABCC6	HP:0002092	Pulmonary arterial hypertension	HP:0040284	ORPHA:51608
368	ABCC6	HP:0100585	Telangiectasia of the skin	HP:0040283	ORPHA:758
368	ABCC6	HP:0011703	Sinus tachycardia	1/2	OMIM:614473
368	ABCC6	HP:0002172	Postural instability	HP:0040283	ORPHA:758
368	ABCC6	HP:0010512	Adrenal calcification	HP:0040282	ORPHA:51608
368	ABCC6	HP:0003593	Infantile onset	2/2	OMIM:614473
368	ABCC6	HP:0003577	Congenital onset	2/2	OMIM:208000
368	ABCC6	HP:0002239	Gastrointestinal hemorrhage	-	OMIM:177850
368	ABCC6	HP:0002239	Gastrointestinal hemorrhage	5/16	OMIM:264800
368	ABCC6	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:758
368	ABCC6	HP:0100758	Gangrene	HP:0040284	ORPHA:51608
368	ABCC6	HP:0010639	Elevated alkaline phosphatase of bone origin	HP:0040283	ORPHA:51608
368	ABCC6	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:51608
368	ABCC6	HP:0001065	Striae distensae	HP:0040282	ORPHA:758
368	ABCC6	HP:0001012	Multiple lipomas	HP:0040283	ORPHA:758
368	ABCC6	HP:0002326	Transient ischemic attack	HP:0040284	ORPHA:51608
368	ABCC6	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:758
368	ABCC6	HP:0100659	Abnormal cerebral vascular morphology	HP:0040281	ORPHA:758
368	ABCC6	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:758
368	ABCC6	HP:0200067	Recurrent spontaneous abortion	HP:0040283	ORPHA:51608
368	ABCC6	HP:0010766	Ectopic calcification	HP:0040282	ORPHA:51608
368	ABCC6	HP:0004963	Calcification of the aorta	HP:0040281	ORPHA:51608
368	ABCC6	HP:0003623	Neonatal onset	1/1	OMIM:208000
368	ABCC6	HP:0004966	Medial calcification of large arteries	-	OMIM:177850
368	ABCC6	HP:0004966	Medial calcification of large arteries	HP:0040282	ORPHA:51608
368	ABCC6	HP:0004940	Generalized arterial calcification	2/2	OMIM:208000
368	ABCC6	HP:0003621	Juvenile onset	8/19	OMIM:180100
368	ABCC6	HP:0004943	Accelerated atherosclerosis	-	OMIM:264800
368	ABCC6	HP:0004912	Hypophosphatemic rickets	HP:0040283	OMIM:614473
368	ABCC6	HP:0004912	Hypophosphatemic rickets	HP:0040282	ORPHA:51608
368	ABCC6	HP:0004912	Hypophosphatemic rickets	HP:0040283	OMIM:208000
368	ABCC6	HP:0000630	Abnormal retinal artery morphology	HP:0040283	ORPHA:51608
368	ABCC6	HP:0001945	Fever	HP:0040283	ORPHA:51608
368	ABCC6	HP:0001920	Renal artery stenosis	1/1	OMIM:208000
368	ABCC6	HP:0000608	Macular degeneration	-	OMIM:177850
368	ABCC6	HP:0000608	Macular degeneration	5/40	OMIM:264800
368	ABCC6	HP:0011344	Severe global developmental delay	HP:0040284	ORPHA:51608
368	ABCC6	HP:0012664	Reduced left ventricular ejection fraction	2/2	OMIM:614473
368	ABCC6	HP:0000662	Nyctalopia	26/28	OMIM:180100
368	ABCC6	HP:0004322	Short stature	HP:0040283	OMIM:208000
368	ABCC6	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:758
368	ABCC6	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:758
368	ABCC6	HP:0000766	Abnormal sternum morphology	-	OMIM:177850
368	ABCC6	HP:0000765	Abnormal thorax morphology	HP:0040283	ORPHA:758
368	ABCC6	HP:0000737	Irritability	HP:0040283	ORPHA:51608
368	ABCC6	HP:0009164	Abnormal calcification of the carpal bones	HP:0040283	ORPHA:51608
368	ABCC6	HP:0011463	Childhood onset	3/19	OMIM:180100
368	ABCC6	HP:0011462	Young adult onset	8/19	OMIM:180100
368	ABCC6	HP:0003109	Hyperphosphaturia	HP:0040284	ORPHA:51608
368	ABCC6	HP:0004417	Intermittent claudication	HP:0040282	ORPHA:758
368	ABCC6	HP:0004417	Intermittent claudication	2/26	OMIM:264800
368	ABCC6	HP:0030718	Right atrial enlargement	1/2	OMIM:614473
368	ABCC6	HP:0011506	Choroidal neovascularization	17/50	OMIM:264800
368	ABCC6	HP:0011506	Choroidal neovascularization	HP:0040284	ORPHA:51608
368	ABCC6	HP:0011506	Choroidal neovascularization	HP:0040283	ORPHA:758
368	ABCC6	HP:0000822	Hypertension	19/67	OMIM:264800
368	ABCC6	HP:0000822	Hypertension	HP:0040283	ORPHA:758
368	ABCC6	HP:0000822	Hypertension	1/2	OMIM:208000
368	ABCC6	HP:0000822	Hypertension	HP:0040282	ORPHA:51608
368	ABCC6	HP:0000822	Hypertension	HP:0040283	OMIM:614473
368	ABCC6	HP:0003207	Arterial calcification	2/2	OMIM:614473
368	ABCC6	HP:0003207	Arterial calcification	HP:0040281	ORPHA:51608
368	ABCC6	HP:0045051	Decreased DLCO	11/35	OMIM:264800
368	ABCC6	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:758
368	ABCC6	HP:0000974	Hyperextensible skin	HP:0040283	ORPHA:758
368	ABCC6	HP:0000973	Cutis laxa	7/16	OMIM:264800
368	ABCC6	HP:0000951	Abnormality of the skin	HP:0040283	ORPHA:51608
368	ABCC6	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:758
368	ABCC6	HP:0000969	Edema	HP:0040283	ORPHA:51608
368	ABCC6	HP:0000961	Cyanosis	HP:0040282	ORPHA:51608
368	ABCC6	HP:0033026	White oral mucosal macule	-	OMIM:264800
368	ABCC6	HP:0033027	Retinal peau d'orange	HP:0040282	ORPHA:758
368	ABCC6	HP:0033027	Retinal peau d'orange	9/9	OMIM:264800
368	ABCC6	HP:0040197	Encephalomalacia	HP:0040284	ORPHA:51608
368	ABCC6	HP:0005103	Calcification of the auricular cartilage	HP:0040284	ORPHA:51608
368	ABCC6	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
368	ABCC6	HP:0002815	Abnormality of the knee	HP:0040283	ORPHA:51608
368	ABCC6	HP:0002829	Arthralgia	HP:0040283	ORPHA:51608
368	ABCC6	HP:0002808	Kyphosis	-	OMIM:177850
368	ABCC6	HP:0025533	Peau d'orange	-	OMIM:177850
368	ABCC6	HP:0001582	Redundant skin	HP:0040282	ORPHA:758
368	ABCC6	HP:0031313	Abdominal aortic calcification	2/2	OMIM:208000
368	ABCC6	HP:0031314	Carotid artery calcification	2/2	OMIM:208000
368	ABCC6	HP:0000218	High palate	-	OMIM:177850
368	ABCC6	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:51608
368	ABCC6	HP:0025507	Yellow papule	-	OMIM:177850
368	ABCC6	HP:0025507	Yellow papule	12/16	OMIM:264800
368	ABCC6	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:51608
368	ABCC6	HP:0001541	Ascites	HP:0040283	ORPHA:51608
368	ABCC6	HP:0001507	Growth abnormality	-	OMIM:208000
368	ABCC6	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
368	ABCC6	HP:0000381	Stapes ankylosis	HP:0040283	ORPHA:51608
368	ABCC6	HP:0006559	Hepatic calcification	HP:0040281	ORPHA:51608
368	ABCC6	HP:0005213	Pancreatic calcification	HP:0040283	ORPHA:51608
368	ABCC6	HP:0002949	Fused cervical vertebrae	HP:0040283	ORPHA:51608
368	ABCC6	HP:0005180	Tricuspid regurgitation	1/2	OMIM:614473
368	ABCC6	HP:0000365	Hearing impairment	HP:0040282	ORPHA:51608
368	ABCC6	HP:0001698	Pericardial effusion	HP:0040283	ORPHA:51608
368	ABCC6	HP:0001681	Angina pectoris	-	OMIM:177850
368	ABCC6	HP:0001681	Angina pectoris	-	OMIM:264800
368	ABCC6	HP:0001681	Angina pectoris	HP:0040283	ORPHA:758
368	ABCC6	HP:0001677	Coronary artery atherosclerosis	3/67	OMIM:264800
368	ABCC6	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:758
368	ABCC6	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:758
368	ABCC6	HP:0001644	Dilated cardiomyopathy	1/1	OMIM:208000
368	ABCC6	HP:0030149	Cardiogenic shock	2/2	OMIM:614473
368	ABCC6	HP:0001658	Myocardial infarction	2/2	OMIM:614473
368	ABCC6	HP:0001658	Myocardial infarction	-	OMIM:208000
368	ABCC6	HP:0001653	Mitral regurgitation	1/2	OMIM:614473
368	ABCC6	HP:0001640	Cardiomegaly	2/2	OMIM:208000
368	ABCC6	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:51608
368	ABCC6	HP:0001640	Cardiomegaly	2/2	OMIM:614473
368	ABCC6	HP:0001635	Congestive heart failure	1/2	OMIM:208000
368	ABCC6	HP:0001635	Congestive heart failure	HP:0040284	OMIM:264800
368	ABCC6	HP:0001635	Congestive heart failure	2/2	OMIM:614473
368	ABCC6	HP:0001634	Mitral valve prolapse	-	OMIM:177850
368	ABCC6	HP:0001634	Mitral valve prolapse	4/99	OMIM:264800
368	ABCC6	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:758
368	ABCC6	HP:0006690	Myocardial calcification	HP:0040284	ORPHA:51608
368	ABCC6	HP:0001723	Restrictive cardiomyopathy	HP:0040284	OMIM:264800
368	ABCC6	HP:0001723	Restrictive cardiomyopathy	HP:0040283	ORPHA:758
368	ABCC6	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:51608
368	ABCC6	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:51608
368	ABCC6	HP:0001717	Coronary artery calcification	2/2	OMIM:614473
368	ABCC6	HP:0001717	Coronary artery calcification	HP:0040282	ORPHA:51608
368	ABCC6	HP:0001717	Coronary artery calcification	-	OMIM:208000
368	ABCC6	HP:0001718	Mitral stenosis	HP:0040284	OMIM:264800
368	ABCC6	HP:0001714	Ventricular hypertrophy	HP:0040283	ORPHA:51608
368	ABCC6	HP:0005297	Premature occlusive vascular stenosis	-	OMIM:177850
368	ABCC6	HP:0012457	Medial calcification of medium-sized arteries	-	OMIM:177850
368	ABCC6	HP:0012457	Medial calcification of medium-sized arteries	HP:0040282	ORPHA:51608
368	ABCC6	HP:0000488	Retinopathy	HP:0040281	ORPHA:758
368	ABCC6	HP:0001789	Hydrops fetalis	HP:0040283	ORPHA:51608
368	ABCC6	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:758
368	ABCC6	HP:0012426	Optic disc drusen	-	OMIM:264800
368	ABCC6	HP:0012408	Medullary nephrocalcinosis	HP:0040282	ORPHA:51608
368	ABCC6	HP:0012409	Cortical nephrocalcinosis	HP:0040283	ORPHA:51608
368	ABCC6	HP:0000410	Mixed hearing impairment	HP:0040283	ORPHA:51608
368	ABCC6	HP:0005462	Calcification of falx cerebri	-	OMIM:177850
368	ABCC6	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:758
368	ABCC6	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
368	ABCC6	HP:0000505	Visual impairment	7/15	OMIM:264800
368	ABCC6	HP:0000505	Visual impairment	HP:0040283	ORPHA:758
368	ABCC6	HP:0000505	Visual impairment	-	OMIM:177850
368	ABCC6	HP:0000575	Scotoma	5/18	OMIM:180100
368	ABCC6	HP:0000592	Blue sclerae	-	OMIM:177850
368	ABCC6	HP:0000592	Blue sclerae	HP:0040283	ORPHA:758
368	ABCC6	HP:0000573	Retinal hemorrhage	HP:0040284	ORPHA:51608
368	ABCC6	HP:0000573	Retinal hemorrhage	-	OMIM:177850
368	ABCC6	HP:0000573	Retinal hemorrhage	-	OMIM:264800
368	ABCC6	HP:0000573	Retinal hemorrhage	HP:0040281	ORPHA:758
368	ABCC6	HP:0001872	Abnormality of thrombocytes	HP:0040283	ORPHA:758
368	ABCC6	HP:0000543	Optic disc pallor	1/1	OMIM:180100
368	ABCC6	HP:0000545	Myopia	-	OMIM:180100
368	ABCC6	HP:0000545	Myopia	-	OMIM:177850
372	ARCN1	HP:0001176	Large hands	1/4	OMIM:617164
372	ARCN1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
372	ARCN1	HP:0003712	Skeletal muscle hypertrophy	1/4	OMIM:617164
372	ARCN1	HP:0001293	Cranial nerve compression	-	OMIM:131300
372	ARCN1	HP:0001272	Cerebellar atrophy	1/4	OMIM:617164
372	ARCN1	HP:0001270	Motor delay	-	OMIM:617164
372	ARCN1	HP:0001250	Seizure	1/4	OMIM:617164
372	ARCN1	HP:0001252	Hypotonia	2/7	OMIM:615777
372	ARCN1	HP:0001251	Ataxia	1/4	OMIM:617164
372	ARCN1	HP:0001249	Intellectual disability	-	OMIM:617164
372	ARCN1	HP:0001249	Intellectual disability	5/7	OMIM:615777
372	ARCN1	HP:0001263	Global developmental delay	2/4	OMIM:617164
372	ARCN1	HP:0001263	Global developmental delay	-	OMIM:615777
372	ARCN1	HP:0002515	Waddling gait	54/102	OMIM:131300
372	ARCN1	HP:0000046	Small scrotum	1/2	OMIM:617164
372	ARCN1	HP:0000054	Micropenis	1/2	OMIM:617164
372	ARCN1	HP:0001382	Joint hypermobility	3/4	OMIM:617164
372	ARCN1	HP:0001382	Joint hypermobility	-	OMIM:615777
372	ARCN1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
372	ARCN1	HP:0000028	Cryptorchidism	1/2	OMIM:617164
372	ARCN1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
372	ARCN1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
372	ARCN1	HP:0001324	Muscle weakness	40/96	OMIM:131300
372	ARCN1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
372	ARCN1	HP:0002673	Coxa valga	1/4	OMIM:617164
372	ARCN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
372	ARCN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
372	ARCN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617164
372	ARCN1	HP:0002650	Scoliosis	12/14	OMIM:131300
372	ARCN1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
372	ARCN1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
372	ARCN1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
372	ARCN1	HP:0008905	Rhizomelia	3/4	OMIM:617164
372	ARCN1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
372	ARCN1	HP:0000175	Cleft palate	1/4	OMIM:617164
372	ARCN1	HP:0000175	Cleft palate	2/7	OMIM:615777
372	ARCN1	HP:0002020	Gastroesophageal reflux	1/4	OMIM:617164
372	ARCN1	HP:0004691	2-3 toe syndactyly	-	OMIM:617164
372	ARCN1	HP:0002066	Gait ataxia	-	OMIM:617164
372	ARCN1	HP:0003388	Easy fatigability	36/76	OMIM:131300
372	ARCN1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
372	ARCN1	HP:0003577	Congenital onset	4/4	OMIM:617164
372	ARCN1	HP:0011968	Feeding difficulties	1/4	OMIM:617164
372	ARCN1	HP:0003510	Severe short stature	7/7	OMIM:615777
372	ARCN1	HP:0002315	Headache	-	OMIM:131300
372	ARCN1	HP:0004976	Knee dislocation	6/7	OMIM:615777
372	ARCN1	HP:0009803	Short phalanx of finger	-	OMIM:615777
372	ARCN1	HP:0009763	Limb pain	63/92	OMIM:131300
372	ARCN1	HP:0003621	Juvenile onset	-	OMIM:131300
372	ARCN1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
372	ARCN1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
372	ARCN1	HP:6001056	Out-toeing	-	OMIM:131300
372	ARCN1	HP:0000651	Diplopia	-	OMIM:131300
372	ARCN1	HP:0001956	Truncal obesity	2/7	OMIM:615777
372	ARCN1	HP:0000601	Hypotelorism	3/4	OMIM:617164
372	ARCN1	HP:0001903	Anemia	HP:0040283	OMIM:131300
372	ARCN1	HP:0010049	Short metacarpal	-	OMIM:615777
372	ARCN1	HP:0000678	Dental crowding	-	OMIM:615777
372	ARCN1	HP:0000670	Carious teeth	-	OMIM:131300
372	ARCN1	HP:0011304	Broad thumb	2/7	OMIM:615777
372	ARCN1	HP:0000668	Hypodontia	-	OMIM:615777
372	ARCN1	HP:0000664	Synophrys	-	OMIM:615777
372	ARCN1	HP:0004325	Decreased body weight	-	OMIM:617164
372	ARCN1	HP:0004322	Short stature	4/4	OMIM:617164
372	ARCN1	HP:0005616	Accelerated skeletal maturation	1/4	OMIM:617164
372	ARCN1	HP:0000808	Penoscrotal hypospadias	1/4	OMIM:617164
372	ARCN1	HP:0004396	Poor appetite	-	OMIM:131300
372	ARCN1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
372	ARCN1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
372	ARCN1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
372	ARCN1	HP:0003016	Metaphyseal widening	1/4	OMIM:617164
372	ARCN1	HP:0003026	Short long bone	7/7	OMIM:615777
372	ARCN1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
372	ARCN1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
372	ARCN1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
372	ARCN1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
372	ARCN1	HP:0000750	Delayed speech and language development	-	OMIM:615777
372	ARCN1	HP:0000717	Autism	1/4	OMIM:617164
372	ARCN1	HP:0011461	Fetal onset	7/7	OMIM:615777
372	ARCN1	HP:0000774	Narrow chest	2/7	OMIM:615777
372	ARCN1	HP:0030799	Scaphocephaly	1/4	OMIM:617164
372	ARCN1	HP:0000926	Platyspondyly	1/7	OMIM:615777
372	ARCN1	HP:0003180	Flat acetabular roof	-	OMIM:615777
372	ARCN1	HP:0004482	Relative macrocephaly	-	OMIM:615777
372	ARCN1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
372	ARCN1	HP:0000823	Delayed puberty	-	OMIM:131300
372	ARCN1	HP:0000894	Short clavicles	-	OMIM:615777
372	ARCN1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
372	ARCN1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
372	ARCN1	HP:0000286	Epicanthus	1/7	OMIM:615777
372	ARCN1	HP:0000280	Coarse facial features	2/7	OMIM:615777
372	ARCN1	HP:0000278	Retrognathia	-	OMIM:617164
372	ARCN1	HP:0006429	Broad femoral neck	1/4	OMIM:617164
372	ARCN1	HP:0002827	Hip dislocation	3/7	OMIM:615777
372	ARCN1	HP:0000252	Microcephaly	3/4	OMIM:617164
372	ARCN1	HP:0000252	Microcephaly	-	OMIM:615777
372	ARCN1	HP:0000218	High palate	1/4	OMIM:617164
372	ARCN1	HP:0002857	Genu valgum	-	OMIM:131300
372	ARCN1	HP:0002870	Obstructive sleep apnea	1/4	OMIM:617164
372	ARCN1	HP:0001533	Slender build	-	OMIM:131300
372	ARCN1	HP:0001508	Failure to thrive	1/4	OMIM:617164
372	ARCN1	HP:0001511	Intrauterine growth retardation	4/4	OMIM:617164
372	ARCN1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
372	ARCN1	HP:0007807	Optic nerve compression	-	OMIM:131300
372	ARCN1	HP:0012368	Flat face	7/7	OMIM:615777
372	ARCN1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
372	ARCN1	HP:0000365	Hearing impairment	10/67	OMIM:131300
372	ARCN1	HP:0000343	Long philtrum	1/7	OMIM:615777
372	ARCN1	HP:0011001	Increased bone mineral density	-	OMIM:131300
372	ARCN1	HP:0000347	Micrognathia	4/4	OMIM:617164
372	ARCN1	HP:0002979	Bowing of the legs	1/4	OMIM:617164
372	ARCN1	HP:0000311	Round face	2/7	OMIM:615777
372	ARCN1	HP:0001629	Ventricular septal defect	1/4	OMIM:617164
372	ARCN1	HP:0002970	Genu varum	-	OMIM:615777
372	ARCN1	HP:0000303	Mandibular prognathia	-	OMIM:131300
372	ARCN1	HP:0006610	Wide intermamillary distance	-	OMIM:617164
372	ARCN1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
372	ARCN1	HP:0000483	Astigmatism	1/4	OMIM:617164
372	ARCN1	HP:0000486	Strabismus	1/4	OMIM:617164
372	ARCN1	HP:0000494	Downslanted palpebral fissures	1/4	OMIM:617164
372	ARCN1	HP:0000470	Short neck	1/7	OMIM:615777
372	ARCN1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
372	ARCN1	HP:0001763	Pes planus	1/7	OMIM:615777
372	ARCN1	HP:0000518	Cataract	1/4	OMIM:617164
372	ARCN1	HP:0001840	Metatarsus adductus	-	OMIM:615777
372	ARCN1	HP:0000520	Proptosis	2/4	OMIM:131300
372	ARCN1	HP:0000520	Proptosis	7/7	OMIM:615777
372	ARCN1	HP:0000592	Blue sclerae	2/7	OMIM:615777
372	ARCN1	HP:0011220	Prominent forehead	1/4	OMIM:617164
372	ARCN1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
372	ARCN1	HP:0012514	Lower limb pain	4/4	OMIM:131300
372	ARCN1	HP:0000545	Myopia	1/4	OMIM:617164
375	ARF1	HP:0001250	Seizure	2/3	OMIM:618185
375	ARF1	HP:0001263	Global developmental delay	2/2	OMIM:618185
375	ARF1	HP:0001257	Spasticity	1/2	OMIM:618185
375	ARF1	HP:0032388	Periventricular nodular heterotopia	2/3	OMIM:618185
375	ARF1	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:98892
375	ARF1	HP:0003834	Shoulder dislocation	HP:0040283	ORPHA:98892
375	ARF1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:98892
375	ARF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618185
375	ARF1	HP:0002650	Scoliosis	HP:0040281	ORPHA:98892
375	ARF1	HP:0002021	Pyloric stenosis	HP:0040281	ORPHA:98892
375	ARF1	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:98892
375	ARF1	HP:0002188	Delayed CNS myelination	1/2	OMIM:618185
375	ARF1	HP:0100790	Hernia	HP:0040281	ORPHA:98892
375	ARF1	HP:0007165	Periventricular heterotopia	HP:0040282	ORPHA:98892
375	ARF1	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:98892
375	ARF1	HP:0006855	Cerebellar vermis atrophy	1/2	OMIM:618185
375	ARF1	HP:0012639	Abnormal nervous system morphology	HP:0040282	ORPHA:98892
375	ARF1	HP:0000750	Delayed speech and language development	1/2	OMIM:618185
375	ARF1	HP:0034295	Reduced cerebral white matter volume	1/2	OMIM:618185
375	ARF1	HP:0000963	Thin skin	HP:0040282	ORPHA:98892
375	ARF1	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:98892
375	ARF1	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:98892
375	ARF1	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:98892
375	ARF1	HP:0001654	Abnormal heart valve morphology	HP:0040282	ORPHA:98892
375	ARF1	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:98892
383	ARG1	HP:0002478	Progressive spastic quadriplegia	-	OMIM:207800
383	ARG1	HP:0002478	Progressive spastic quadriplegia	HP:0040282	ORPHA:90
383	ARG1	HP:0500153	Hyperargininemia	12/12	OMIM:207800
383	ARG1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:90
383	ARG1	HP:0001272	Cerebellar atrophy	1/1	OMIM:207800
383	ARG1	HP:0001250	Seizure	HP:0040282	ORPHA:90
383	ARG1	HP:0001250	Seizure	-	OMIM:207800
383	ARG1	HP:0001249	Intellectual disability	-	OMIM:207800
383	ARG1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:90
383	ARG1	HP:0001263	Global developmental delay	-	OMIM:207800
383	ARG1	HP:0002572	Episodic vomiting	1/1	OMIM:207800
383	ARG1	HP:0001396	Cholestasis	1/1	OMIM:207800
383	ARG1	HP:0008897	Postnatal growth retardation	-	OMIM:207800
383	ARG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:207800
383	ARG1	HP:0001413	Micronodular cirrhosis	1/1	OMIM:207800
383	ARG1	HP:0002013	Vomiting	-	OMIM:207800
383	ARG1	HP:0002064	Spastic gait	1/1	OMIM:207800
383	ARG1	HP:0002039	Anorexia	-	OMIM:207800
383	ARG1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:90
383	ARG1	HP:0002240	Hepatomegaly	1/1	OMIM:207800
383	ARG1	HP:0008339	Diaminoaciduria	-	OMIM:207800
383	ARG1	HP:0008339	Diaminoaciduria	HP:0040281	ORPHA:90
383	ARG1	HP:0002359	Frequent falls	1/1	OMIM:207800
383	ARG1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:90
383	ARG1	HP:0002313	Spastic paraparesis	-	OMIM:207800
383	ARG1	HP:0003623	Neonatal onset	1/1	OMIM:207800
383	ARG1	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:90
383	ARG1	HP:0001987	Hyperammonemia	12/12	OMIM:207800
383	ARG1	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:90
383	ARG1	HP:0000752	Hyperactivity	-	OMIM:207800
383	ARG1	HP:0000737	Irritability	-	OMIM:207800
383	ARG1	HP:0000708	Atypical behavior	HP:0040281	ORPHA:90
383	ARG1	HP:0011463	Childhood onset	1/1	OMIM:207800
383	ARG1	HP:4000203	Reduced erythrocyte arginase activity	-	OMIM:207800
383	ARG1	HP:0003218	Oroticaciduria	-	OMIM:207800
383	ARG1	HP:0006580	Portal fibrosis	1/1	OMIM:207800
387	RHOA	HP:0001156	Brachydactyly	2/7	OMIM:618727
387	RHOA	HP:0009928	Thick nasal alae	3/7	OMIM:618727
387	RHOA	HP:0009918	Ectopia pupillae	1/7	OMIM:618727
387	RHOA	HP:0001249	Intellectual disability	0/7	OMIM:618727
387	RHOA	HP:0001263	Global developmental delay	0/7	OMIM:618727
387	RHOA	HP:0007663	Reduced visual acuity	-	OMIM:618727
387	RHOA	HP:0006335	Persistence of primary teeth	1/7	OMIM:618727
387	RHOA	HP:0006297	Enamel hypoplasia	1/7	OMIM:618727
387	RHOA	HP:0001442	Typified by somatic mosaicism	-	OMIM:618727
387	RHOA	HP:0003577	Congenital onset	-	OMIM:618727
387	RHOA	HP:0009779	3-4 toe syndactyly	1/7	OMIM:618727
387	RHOA	HP:0000639	Nystagmus	1/7	OMIM:618727
387	RHOA	HP:0000648	Optic atrophy	1/7	OMIM:618727
387	RHOA	HP:0010055	Broad hallux	2/7	OMIM:618727
387	RHOA	HP:0000698	Conical tooth	3/7	OMIM:618727
387	RHOA	HP:0000677	Oligodontia	2/7	OMIM:618727
387	RHOA	HP:0000691	Microdontia	3/7	OMIM:618727
387	RHOA	HP:0011332	Hemifacial hypoplasia	4/7	OMIM:618727
387	RHOA	HP:0000689	Dental malocclusion	1/7	OMIM:618727
387	RHOA	HP:0004552	Scarring alopecia of scalp	3/7	OMIM:618727
387	RHOA	HP:0000272	Malar flattening	4/7	OMIM:618727
387	RHOA	HP:0030084	Clinodactyly	2/7	OMIM:618727
387	RHOA	HP:0000324	Facial asymmetry	7/7	OMIM:618727
387	RHOA	HP:0007946	Unilateral narrow palpebral fissure	1/7	OMIM:618727
387	RHOA	HP:0000483	Astigmatism	1/7	OMIM:618727
387	RHOA	HP:0000486	Strabismus	2/7	OMIM:618727
387	RHOA	HP:0000431	Wide nasal bridge	3/7	OMIM:618727
387	RHOA	HP:0000518	Cataract	2/7	OMIM:618727
387	RHOA	HP:0001852	Sandal gap	1/7	OMIM:618727
387	RHOA	HP:0000501	Glaucoma	1/7	OMIM:618727
387	RHOA	HP:0000568	Microphthalmia	1/7	OMIM:618727
387	RHOA	HP:0000545	Myopia	4/7	OMIM:618727
396	ARHGDIA	HP:0003774	Stage 5 chronic kidney disease	1/2	OMIM:615244
396	ARHGDIA	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
396	ARHGDIA	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
396	ARHGDIA	HP:0001250	Seizure	-	OMIM:615244
396	ARHGDIA	HP:0001249	Intellectual disability	-	OMIM:615244
396	ARHGDIA	HP:0007430	Generalized edema	1/2	OMIM:615244
396	ARHGDIA	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
396	ARHGDIA	HP:0000093	Proteinuria	2/2	OMIM:615244
396	ARHGDIA	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
396	ARHGDIA	HP:0000007	Autosomal recessive inheritance	-	OMIM:615244
396	ARHGDIA	HP:0000100	Nephrotic syndrome	2/2	OMIM:615244
396	ARHGDIA	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
396	ARHGDIA	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
396	ARHGDIA	HP:0100704	Cerebral visual impairment	-	OMIM:615244
396	ARHGDIA	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
396	ARHGDIA	HP:0003678	Rapidly progressive	-	OMIM:615244
396	ARHGDIA	HP:0002315	Headache	HP:0040283	ORPHA:656
396	ARHGDIA	HP:0003623	Neonatal onset	2/2	OMIM:615244
396	ARHGDIA	HP:0012622	Chronic kidney disease	-	OMIM:615244
396	ARHGDIA	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
396	ARHGDIA	HP:0001967	Diffuse mesangial sclerosis	1/1	OMIM:615244
396	ARHGDIA	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
396	ARHGDIA	HP:0001945	Fever	HP:0040283	ORPHA:656
396	ARHGDIA	HP:0003073	Hypoalbuminemia	2/2	OMIM:615244
396	ARHGDIA	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
396	ARHGDIA	HP:0000737	Irritability	HP:0040283	ORPHA:656
396	ARHGDIA	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
396	ARHGDIA	HP:0000969	Edema	-	OMIM:615244
396	ARHGDIA	HP:0000969	Edema	HP:0040281	ORPHA:656
396	ARHGDIA	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
396	ARHGDIA	HP:0000407	Sensorineural hearing impairment	-	OMIM:615244
396	ARHGDIA	HP:0012577	Thin glomerular basement membrane	-	OMIM:615244
396	ARHGDIA	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
399	RHOH	HP:0032215	Disseminated cutaneous warts	2/2	OMIM:618307
399	RHOH	HP:0000007	Autosomal recessive inheritance	-	OMIM:618307
399	RHOH	HP:0002097	Emphysema	1/2	OMIM:618307
399	RHOH	HP:0001041	Facial erythema	1/2	OMIM:618307
399	RHOH	HP:0011463	Childhood onset	2/2	OMIM:618307
399	RHOH	HP:0010280	Stomatitis	1/2	OMIM:618307
399	RHOH	HP:0030080	Burkitt lymphoma	1/2	OMIM:618307
399	RHOH	HP:0031514	Increased proportion of exhausted T cells	2/2	OMIM:618307
401	PHOX2A	HP:0025186	Marcus Gunn jaw winking synkinesis	HP:0040283	ORPHA:45358
401	PHOX2A	HP:0009916	Anisocoria	HP:0040283	ORPHA:45358
401	PHOX2A	HP:0001252	Hypotonia	HP:0040283	ORPHA:45358
401	PHOX2A	HP:0001249	Intellectual disability	HP:0040283	ORPHA:45358
401	PHOX2A	HP:6000709	Absent Bell phenomenon	HP:0040281	ORPHA:45358
401	PHOX2A	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:45358
401	PHOX2A	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:45358
401	PHOX2A	HP:0025309	Abnormal pupil shape	HP:0040282	ORPHA:45358
401	PHOX2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:602078
401	PHOX2A	HP:0032466	Aplasia of the olfactory bulb	HP:0040283	ORPHA:45358
401	PHOX2A	HP:0001491	Congenital fibrosis of extraocular muscles	-	OMIM:602078
401	PHOX2A	HP:0001491	Congenital fibrosis of extraocular muscles	HP:0040281	ORPHA:45358
401	PHOX2A	HP:0001488	Bilateral ptosis	-	OMIM:602078
401	PHOX2A	HP:0001477	Compensatory chin elevation	HP:0040282	ORPHA:45358
401	PHOX2A	HP:0002013	Vomiting	HP:0040283	ORPHA:45358
401	PHOX2A	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:45358
401	PHOX2A	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:45358
401	PHOX2A	HP:0003577	Congenital onset	-	OMIM:602078
401	PHOX2A	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:45358
401	PHOX2A	HP:0030534	Abnormal best corrected visual acuity test	HP:0040281	ORPHA:45358
401	PHOX2A	HP:0000646	Amblyopia	HP:0040282	ORPHA:45358
401	PHOX2A	HP:0000646	Amblyopia	-	OMIM:602078
401	PHOX2A	HP:0000616	Miosis	HP:0040282	ORPHA:45358
401	PHOX2A	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:45358
401	PHOX2A	HP:0011347	Abnormality of ocular abduction	HP:0040281	ORPHA:45358
401	PHOX2A	HP:0030588	Abnormal visual field test	HP:0040282	ORPHA:45358
401	PHOX2A	HP:0009380	Finger aplasia	HP:0040283	ORPHA:45358
401	PHOX2A	HP:0025584	Hypotropia	-	OMIM:602078
401	PHOX2A	HP:0025586	Hypertropia	-	OMIM:602078
401	PHOX2A	HP:0012241	Levator palpebrae superioris atrophy	HP:0040281	ORPHA:45358
401	PHOX2A	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	HP:0040282	ORPHA:45358
401	PHOX2A	HP:0007936	Restrictive external ophthalmoplegia	-	OMIM:602078
401	PHOX2A	HP:0000486	Strabismus	HP:0040281	ORPHA:45358
401	PHOX2A	HP:0030211	Slow pupillary light response	HP:0040281	ORPHA:45358
401	PHOX2A	HP:0000473	Torticollis	HP:0040283	ORPHA:45358
401	PHOX2A	HP:0025721	Limited vertical extraocular movement	HP:0040281	ORPHA:45358
401	PHOX2A	HP:0000518	Cataract	HP:0040283	ORPHA:45358
401	PHOX2A	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:45358
401	PHOX2A	HP:0000508	Ptosis	HP:0040281	ORPHA:45358
401	PHOX2A	HP:0000505	Visual impairment	-	OMIM:602078
401	PHOX2A	HP:0000577	Exotropia	HP:0040281	ORPHA:45358
401	PHOX2A	HP:0000577	Exotropia	-	OMIM:602078
401	PHOX2A	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:45358
401	PHOX2A	HP:0000565	Esotropia	HP:0040283	ORPHA:45358
401	PHOX2A	HP:0000539	Abnormality of refraction	HP:0040282	ORPHA:45358
401	PHOX2A	HP:0000542	Impaired ocular adduction	HP:0040281	ORPHA:45358
402	ARL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619082
402	ARL2	HP:0007663	Reduced visual acuity	4/4	OMIM:619082
402	ARL2	HP:0003577	Congenital onset	4/4	OMIM:619082
402	ARL2	HP:0030856	Posterior staphyloma	1/4	OMIM:619082
402	ARL2	HP:0000482	Microcornea	4/4	OMIM:619082
402	ARL2	HP:0000518	Cataract	4/4	OMIM:619082
402	ARL2	HP:0000510	Rod-cone dystrophy	4/4	OMIM:619082
403	ARL3	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
403	ARL3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
403	ARL3	HP:0001133	Constriction of peripheral visual field	4/5	OMIM:618173
403	ARL3	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
403	ARL3	HP:0002419	Molar tooth sign on MRI	4/4	OMIM:618161
403	ARL3	HP:0001290	Generalized hypotonia	-	OMIM:618161
403	ARL3	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
403	ARL3	HP:0100832	Vitreous floaters	2/3	OMIM:618173
403	ARL3	HP:0001250	Seizure	HP:0040283	ORPHA:475
403	ARL3	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
403	ARL3	HP:0001251	Ataxia	4/4	OMIM:618161
403	ARL3	HP:0001251	Ataxia	HP:0040281	ORPHA:475
403	ARL3	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
403	ARL3	HP:0001263	Global developmental delay	4/4	OMIM:618161
403	ARL3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
403	ARL3	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
403	ARL3	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
403	ARL3	HP:0002553	Highly arched eyebrow	-	OMIM:618161
403	ARL3	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
403	ARL3	HP:0000010	Recurrent urinary tract infections	2/4	OMIM:618161
403	ARL3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
403	ARL3	HP:0000007	Autosomal recessive inheritance	-	OMIM:618161
403	ARL3	HP:0000003	Multicystic kidney dysplasia	1/4	OMIM:618161
403	ARL3	HP:0001337	Tremor	HP:0040283	ORPHA:475
403	ARL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
403	ARL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:618173
403	ARL3	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
403	ARL3	HP:0001320	Cerebellar vermis hypoplasia	4/4	OMIM:618161
403	ARL3	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
403	ARL3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
403	ARL3	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
403	ARL3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
403	ARL3	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
403	ARL3	HP:0007663	Reduced visual acuity	5/5	OMIM:618173
403	ARL3	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
403	ARL3	HP:0000126	Hydronephrosis	1/4	OMIM:618161
403	ARL3	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
403	ARL3	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
403	ARL3	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
403	ARL3	HP:0002104	Apnea	HP:0040281	ORPHA:475
403	ARL3	HP:0011933	Elongated superior cerebellar peduncle	4/4	OMIM:618161
403	ARL3	HP:0010535	Sleep apnea	1/4	OMIM:618161
403	ARL3	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
403	ARL3	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
403	ARL3	HP:0003621	Juvenile onset	8/19	OMIM:180100
403	ARL3	HP:0003621	Juvenile onset	2/2	OMIM:618173
403	ARL3	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
403	ARL3	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
403	ARL3	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
403	ARL3	HP:0000618	Blindness	HP:0040281	ORPHA:791
403	ARL3	HP:0000613	Photophobia	HP:0040281	ORPHA:791
403	ARL3	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
403	ARL3	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
403	ARL3	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
403	ARL3	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
403	ARL3	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
403	ARL3	HP:0000662	Nyctalopia	26/28	OMIM:180100
403	ARL3	HP:0000662	Nyctalopia	4/4	OMIM:618161
403	ARL3	HP:0000662	Nyctalopia	12/12	OMIM:618173
403	ARL3	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
403	ARL3	HP:0000657	Oculomotor apraxia	1/4	OMIM:618161
403	ARL3	HP:0000664	Synophrys	-	OMIM:618161
403	ARL3	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
403	ARL3	HP:0030672	Asteroid hyalosis	-	OMIM:618173
403	ARL3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
403	ARL3	HP:0004370	Abnormality of temperature regulation	2/4	OMIM:618161
403	ARL3	HP:0000768	Pectus carinatum	1/4	OMIM:618161
403	ARL3	HP:0011463	Childhood onset	3/19	OMIM:180100
403	ARL3	HP:0011462	Young adult onset	8/19	OMIM:180100
403	ARL3	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
403	ARL3	HP:0030760	Renal fibrosis	1/4	OMIM:618161
403	ARL3	HP:0030786	Photopsia	HP:0040283	ORPHA:791
403	ARL3	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
403	ARL3	HP:0011505	Cystoid macular edema	1/3	OMIM:618173
403	ARL3	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
403	ARL3	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
403	ARL3	HP:0000954	Single transverse palmar crease	1/4	OMIM:618161
403	ARL3	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
403	ARL3	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
403	ARL3	HP:0000276	Long face	HP:0040282	ORPHA:475
403	ARL3	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
403	ARL3	HP:0007787	Posterior subcapsular cataract	3/3	OMIM:618173
403	ARL3	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
403	ARL3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
403	ARL3	HP:0007737	Bone spicule pigmentation of the retina	12/12	OMIM:618173
403	ARL3	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
403	ARL3	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
403	ARL3	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
403	ARL3	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
403	ARL3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
403	ARL3	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:618173
403	ARL3	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
403	ARL3	HP:0000369	Low-set ears	-	OMIM:618161
403	ARL3	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
403	ARL3	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
403	ARL3	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
403	ARL3	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
403	ARL3	HP:0005280	Depressed nasal bridge	-	OMIM:618161
403	ARL3	HP:0000486	Strabismus	HP:0040283	ORPHA:475
403	ARL3	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
403	ARL3	HP:0000463	Anteverted nares	-	OMIM:618161
403	ARL3	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
403	ARL3	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
403	ARL3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
403	ARL3	HP:0000510	Rod-cone dystrophy	4/4	OMIM:618161
403	ARL3	HP:0000510	Rod-cone dystrophy	3/3	OMIM:618173
403	ARL3	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
403	ARL3	HP:0000529	Progressive visual loss	-	OMIM:618161
403	ARL3	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
403	ARL3	HP:0000506	Telecanthus	-	OMIM:618161
403	ARL3	HP:0000508	Ptosis	1/4	OMIM:618161
403	ARL3	HP:0000508	Ptosis	HP:0040283	ORPHA:475
403	ARL3	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
403	ARL3	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
403	ARL3	HP:0000575	Scotoma	5/18	OMIM:180100
403	ARL3	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
403	ARL3	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
403	ARL3	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
403	ARL3	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
403	ARL3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
403	ARL3	HP:0000545	Myopia	-	OMIM:180100
407	ARR3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
407	ARR3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
407	ARR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
407	ARR3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
407	ARR3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
407	ARR3	HP:0001417	X-linked inheritance	-	OMIM:301010
407	ARR3	HP:0003621	Juvenile onset	8/19	OMIM:180100
407	ARR3	HP:0000662	Nyctalopia	26/28	OMIM:180100
407	ARR3	HP:0011463	Childhood onset	3/19	OMIM:180100
407	ARR3	HP:0011462	Young adult onset	8/19	OMIM:180100
407	ARR3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
407	ARR3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
407	ARR3	HP:0011003	High myopia	15/15	OMIM:301010
407	ARR3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
407	ARR3	HP:0000575	Scotoma	5/18	OMIM:180100
407	ARR3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
407	ARR3	HP:0000545	Myopia	-	OMIM:180100
410	ARSA	HP:0002483	Bulbar signs	HP:0040283	ORPHA:309271
410	ARSA	HP:0002478	Progressive spastic quadriplegia	HP:0040283	ORPHA:309271
410	ARSA	HP:0002445	Tetraplegia	-	OMIM:250100
410	ARSA	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:309256
410	ARSA	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:309271
410	ARSA	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:309263
410	ARSA	HP:0007272	Progressive psychomotor deterioration	HP:0040283	ORPHA:309271
410	ARSA	HP:0007272	Progressive psychomotor deterioration	HP:0040283	ORPHA:309263
410	ARSA	HP:0007240	Progressive gait ataxia	HP:0040283	ORPHA:309271
410	ARSA	HP:0007240	Progressive gait ataxia	HP:0040282	ORPHA:309256
410	ARSA	HP:0007240	Progressive gait ataxia	HP:0040283	ORPHA:309263
410	ARSA	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:309256
410	ARSA	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:309271
410	ARSA	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:309263
410	ARSA	HP:0034863	Reduced leukocyte arylsulfatase A activity	-	OMIM:250100
410	ARSA	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:309271
410	ARSA	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:309263
410	ARSA	HP:0001290	Generalized hypotonia	-	OMIM:250100
410	ARSA	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:309256
410	ARSA	HP:0001268	Mental deterioration	-	OMIM:250100
410	ARSA	HP:0001288	Gait disturbance	HP:0040282	ORPHA:309271
410	ARSA	HP:0001288	Gait disturbance	-	OMIM:250100
410	ARSA	HP:0001283	Bulbar palsy	-	OMIM:250100
410	ARSA	HP:0001250	Seizure	HP:0040284	ORPHA:309271
410	ARSA	HP:0001250	Seizure	HP:0040283	ORPHA:309263
410	ARSA	HP:0001250	Seizure	-	OMIM:250100
410	ARSA	HP:0001250	Seizure	HP:0040282	ORPHA:309256
410	ARSA	HP:0001252	Hypotonia	-	OMIM:250100
410	ARSA	HP:0001251	Ataxia	-	OMIM:250100
410	ARSA	HP:0001249	Intellectual disability	-	OMIM:250100
410	ARSA	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:309271
410	ARSA	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:309263
410	ARSA	HP:0001265	Hyporeflexia	-	OMIM:250100
410	ARSA	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:309256
410	ARSA	HP:0001260	Dysarthria	HP:0040282	ORPHA:309271
410	ARSA	HP:0001260	Dysarthria	HP:0040282	ORPHA:309263
410	ARSA	HP:0001260	Dysarthria	-	OMIM:250100
410	ARSA	HP:0001260	Dysarthria	HP:0040282	ORPHA:309256
410	ARSA	HP:0001257	Spasticity	HP:0040283	ORPHA:309271
410	ARSA	HP:0001257	Spasticity	HP:0040283	ORPHA:309263
410	ARSA	HP:0001257	Spasticity	HP:0040283	ORPHA:309256
410	ARSA	HP:0002510	Spastic tetraplegia	-	OMIM:250100
410	ARSA	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:250100
410	ARSA	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:309271
410	ARSA	HP:0000020	Urinary incontinence	HP:0040282	ORPHA:309263
410	ARSA	HP:0000020	Urinary incontinence	HP:0040282	ORPHA:309256
410	ARSA	HP:0000020	Urinary incontinence	-	OMIM:250100
410	ARSA	HP:0001347	Hyperreflexia	-	OMIM:250100
410	ARSA	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:309256
410	ARSA	HP:0001332	Dystonia	HP:0040282	ORPHA:309271
410	ARSA	HP:0001332	Dystonia	HP:0040282	ORPHA:309263
410	ARSA	HP:0001332	Dystonia	-	OMIM:250100
410	ARSA	HP:0001332	Dystonia	HP:0040282	ORPHA:309256
410	ARSA	HP:0001324	Muscle weakness	HP:0040282	ORPHA:309271
410	ARSA	HP:0001324	Muscle weakness	HP:0040282	ORPHA:309263
410	ARSA	HP:0001324	Muscle weakness	HP:0040282	ORPHA:309256
410	ARSA	HP:0000007	Autosomal recessive inheritance	-	OMIM:250100
410	ARSA	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:309271
410	ARSA	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:309271
410	ARSA	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:309263
410	ARSA	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:309256
410	ARSA	HP:0002080	Intention tremor	HP:0040283	ORPHA:309271
410	ARSA	HP:0002080	Intention tremor	HP:0040283	ORPHA:309263
410	ARSA	HP:0002066	Gait ataxia	HP:0040282	ORPHA:309256
410	ARSA	HP:0002072	Chorea	HP:0040283	ORPHA:309271
410	ARSA	HP:0002072	Chorea	-	OMIM:250100
410	ARSA	HP:0100575	Neoplasm of the gallbladder	HP:0040284	ORPHA:309271
410	ARSA	HP:0003487	Babinski sign	HP:0040283	ORPHA:309271
410	ARSA	HP:0003487	Babinski sign	HP:0040283	ORPHA:309263
410	ARSA	HP:0003487	Babinski sign	-	OMIM:250100
410	ARSA	HP:0003487	Babinski sign	HP:0040283	ORPHA:309256
410	ARSA	HP:0003444	EMG: chronic denervation signs	HP:0040283	ORPHA:309271
410	ARSA	HP:0003444	EMG: chronic denervation signs	HP:0040282	ORPHA:309256
410	ARSA	HP:0003444	EMG: chronic denervation signs	HP:0040283	ORPHA:309263
410	ARSA	HP:0003445	EMG: neuropathic changes	-	OMIM:250100
410	ARSA	HP:0100753	Schizophrenia	HP:0040283	ORPHA:309271
410	ARSA	HP:0034687	Impaired cerebroside sulfate hydrolysis	-	OMIM:250100
410	ARSA	HP:0025013	Decerebrate rigidity	HP:0040284	ORPHA:309271
410	ARSA	HP:0025013	Decerebrate rigidity	HP:0040284	ORPHA:309263
410	ARSA	HP:0025013	Decerebrate rigidity	HP:0040284	ORPHA:309256
410	ARSA	HP:0002359	Frequent falls	HP:0040282	ORPHA:309271
410	ARSA	HP:0002359	Frequent falls	HP:0040282	ORPHA:309263
410	ARSA	HP:0002359	Frequent falls	HP:0040282	ORPHA:309256
410	ARSA	HP:0002376	Developmental regression	HP:0040282	ORPHA:309271
410	ARSA	HP:0002376	Developmental regression	HP:0040282	ORPHA:309263
410	ARSA	HP:0002376	Developmental regression	HP:0040282	ORPHA:309256
410	ARSA	HP:0002371	Loss of speech	HP:0040283	ORPHA:309271
410	ARSA	HP:0002371	Loss of speech	HP:0040283	ORPHA:309256
410	ARSA	HP:0002371	Loss of speech	HP:0040283	ORPHA:309263
410	ARSA	HP:0002371	Loss of speech	-	OMIM:250100
410	ARSA	HP:0002354	Memory impairment	HP:0040282	ORPHA:309271
410	ARSA	HP:0001082	Cholecystitis	HP:0040283	ORPHA:309271
410	ARSA	HP:0001082	Cholecystitis	HP:0040283	ORPHA:309256
410	ARSA	HP:0001082	Cholecystitis	HP:0040283	ORPHA:309263
410	ARSA	HP:0001082	Cholecystitis	-	OMIM:250100
410	ARSA	HP:0007133	Progressive peripheral neuropathy	HP:0040283	ORPHA:309271
410	ARSA	HP:0007133	Progressive peripheral neuropathy	HP:0040283	ORPHA:309263
410	ARSA	HP:0007133	Progressive peripheral neuropathy	HP:0040282	ORPHA:309256
410	ARSA	HP:0007133	Progressive peripheral neuropathy	-	OMIM:250100
410	ARSA	HP:0002312	Clumsiness	HP:0040282	ORPHA:309271
410	ARSA	HP:0002312	Clumsiness	HP:0040282	ORPHA:309263
410	ARSA	HP:0002312	Clumsiness	HP:0040282	ORPHA:309256
410	ARSA	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	HP:0040284	ORPHA:309271
410	ARSA	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:309271
410	ARSA	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:309256
410	ARSA	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:309263
410	ARSA	HP:0000648	Optic atrophy	HP:0040282	ORPHA:309271
410	ARSA	HP:0000648	Optic atrophy	HP:0040282	ORPHA:309263
410	ARSA	HP:0000648	Optic atrophy	-	OMIM:250100
410	ARSA	HP:0000648	Optic atrophy	HP:0040282	ORPHA:309256
410	ARSA	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040283	ORPHA:309271
410	ARSA	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040283	ORPHA:309263
410	ARSA	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040283	ORPHA:309256
410	ARSA	HP:0005609	Gallbladder dysfunction	-	OMIM:250100
410	ARSA	HP:0004343	Abnormal glycosphingolipid metabolism	HP:0040282	ORPHA:309271
410	ARSA	HP:0004343	Abnormal glycosphingolipid metabolism	HP:0040282	ORPHA:309263
410	ARSA	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:309256
410	ARSA	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:309271
410	ARSA	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:309263
410	ARSA	HP:0000762	Decreased nerve conduction velocity	-	OMIM:250100
410	ARSA	HP:0000738	Hallucinations	HP:0040283	ORPHA:309256
410	ARSA	HP:0000738	Hallucinations	HP:0040282	ORPHA:309271
410	ARSA	HP:0000738	Hallucinations	HP:0040283	ORPHA:309263
410	ARSA	HP:0000738	Hallucinations	-	OMIM:250100
410	ARSA	HP:0000736	Short attention span	HP:0040282	ORPHA:309271
410	ARSA	HP:0000736	Short attention span	HP:0040282	ORPHA:309263
410	ARSA	HP:0000746	Delusion	HP:0040282	ORPHA:309271
410	ARSA	HP:0000746	Delusion	HP:0040283	ORPHA:309256
410	ARSA	HP:0000746	Delusion	HP:0040283	ORPHA:309263
410	ARSA	HP:0000746	Delusion	-	OMIM:250100
410	ARSA	HP:0000716	Depression	HP:0040283	ORPHA:309271
410	ARSA	HP:0000712	Emotional lability	HP:0040282	ORPHA:309271
410	ARSA	HP:0000712	Emotional lability	HP:0040283	ORPHA:309263
410	ARSA	HP:0000712	Emotional lability	HP:0040283	ORPHA:309256
410	ARSA	HP:0000712	Emotional lability	-	OMIM:250100
410	ARSA	HP:0000726	Dementia	HP:0040282	ORPHA:309271
410	ARSA	HP:0003270	Abdominal distention	HP:0040283	ORPHA:309271
410	ARSA	HP:0003270	Abdominal distention	HP:0040283	ORPHA:309263
410	ARSA	HP:0003270	Abdominal distention	HP:0040283	ORPHA:309256
410	ARSA	HP:0030081	Punctate periventricular T2 hyperintense foci	HP:0040282	ORPHA:309271
410	ARSA	HP:0030081	Punctate periventricular T2 hyperintense foci	HP:0040282	ORPHA:309263
410	ARSA	HP:0030081	Punctate periventricular T2 hyperintense foci	HP:0040282	ORPHA:309256
410	ARSA	HP:0031358	Vegetative state	HP:0040284	ORPHA:309271
410	ARSA	HP:0031358	Vegetative state	HP:0040284	ORPHA:309263
410	ARSA	HP:0031358	Vegetative state	HP:0040284	ORPHA:309256
410	ARSA	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:309256
410	ARSA	HP:0011096	Peripheral demyelination	-	OMIM:250100
410	ARSA	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:309256
410	ARSA	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:309271
410	ARSA	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:309263
410	ARSA	HP:0002922	Increased CSF protein concentration	-	OMIM:250100
410	ARSA	HP:0012433	Abnormal social behavior	HP:0040282	ORPHA:309271
410	ARSA	HP:0012433	Abnormal social behavior	HP:0040282	ORPHA:309263
410	ARSA	HP:0012433	Abnormal social behavior	HP:0040283	ORPHA:309256
411	ARSB	HP:0001171	Split hand	38/38	OMIM:253200
411	ARSB	HP:0010885	Avascular necrosis	-	OMIM:253200
411	ARSB	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
411	ARSB	HP:0034861	Reduced leukocyte arylsulfatase B activity	-	OMIM:253200
411	ARSB	HP:0001293	Cranial nerve compression	-	OMIM:131300
411	ARSB	HP:0001250	Seizure	5/28	OMIM:253200
411	ARSB	HP:0001252	Hypotonia	2/7	OMIM:615777
411	ARSB	HP:0001249	Intellectual disability	0/28	OMIM:253200
411	ARSB	HP:0001249	Intellectual disability	5/7	OMIM:615777
411	ARSB	HP:0001263	Global developmental delay	-	OMIM:615777
411	ARSB	HP:0002515	Waddling gait	54/102	OMIM:131300
411	ARSB	HP:0001371	Flexion contracture	28/28	OMIM:253200
411	ARSB	HP:0001385	Hip dysplasia	15/28	OMIM:253200
411	ARSB	HP:0001387	Joint stiffness	-	OMIM:253200
411	ARSB	HP:0001382	Joint hypermobility	-	OMIM:615777
411	ARSB	HP:0000023	Inguinal hernia	8/28	OMIM:253200
411	ARSB	HP:0002694	Sclerosis of skull base	-	OMIM:131300
411	ARSB	HP:0008897	Postnatal growth retardation	-	OMIM:615777
411	ARSB	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
411	ARSB	HP:0002656	Epiphyseal dysplasia	-	OMIM:253200
411	ARSB	HP:0001324	Muscle weakness	40/96	OMIM:131300
411	ARSB	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
411	ARSB	HP:0000007	Autosomal recessive inheritance	-	OMIM:253200
411	ARSB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
411	ARSB	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
411	ARSB	HP:0002650	Scoliosis	12/14	OMIM:131300
411	ARSB	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
411	ARSB	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
411	ARSB	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
411	ARSB	HP:0012185	Constrictive median neuropathy	15/38	OMIM:253200
411	ARSB	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
411	ARSB	HP:0000158	Macroglossia	18/28	OMIM:253200
411	ARSB	HP:0000175	Cleft palate	2/7	OMIM:615777
411	ARSB	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:253200
411	ARSB	HP:0002751	Kyphoscoliosis	22/28	OMIM:253200
411	ARSB	HP:0003311	Hypoplasia of the odontoid process	-	OMIM:253200
411	ARSB	HP:0003300	Ovoid vertebral bodies	-	OMIM:253200
411	ARSB	HP:0002092	Pulmonary arterial hypertension	4/28	OMIM:253200
411	ARSB	HP:0002090	Pneumonia	16/28	OMIM:253200
411	ARSB	HP:0002091	Restrictive ventilatory defect	9/28	OMIM:253200
411	ARSB	HP:0003388	Easy fatigability	36/76	OMIM:131300
411	ARSB	HP:0010444	Pulmonic regurgitation	4/28	OMIM:253200
411	ARSB	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
411	ARSB	HP:0011703	Sinus tachycardia	12/28	OMIM:253200
411	ARSB	HP:0010535	Sleep apnea	23/28	OMIM:253200
411	ARSB	HP:0003593	Infantile onset	16/25	OMIM:253200
411	ARSB	HP:0002240	Hepatomegaly	10/28	OMIM:253200
411	ARSB	HP:0011941	Anterior wedging of L2	-	OMIM:253200
411	ARSB	HP:0008301	Dermatan sulfate excretion in urine	-	OMIM:253200
411	ARSB	HP:0003510	Severe short stature	7/7	OMIM:615777
411	ARSB	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:253200
411	ARSB	HP:0001007	Hirsutism	26/28	OMIM:253200
411	ARSB	HP:0002318	Cervical myelopathy	-	OMIM:253200
411	ARSB	HP:0002315	Headache	-	OMIM:131300
411	ARSB	HP:0004976	Knee dislocation	6/7	OMIM:615777
411	ARSB	HP:0001072	Thickened skin	26/28	OMIM:253200
411	ARSB	HP:0009803	Short phalanx of finger	-	OMIM:615777
411	ARSB	HP:0008432	Anterior wedging of L1	-	OMIM:253200
411	ARSB	HP:0009763	Limb pain	63/92	OMIM:131300
411	ARSB	HP:0003621	Juvenile onset	-	OMIM:131300
411	ARSB	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
411	ARSB	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
411	ARSB	HP:6001056	Out-toeing	-	OMIM:131300
411	ARSB	HP:0000651	Diplopia	-	OMIM:131300
411	ARSB	HP:0001956	Truncal obesity	2/7	OMIM:615777
411	ARSB	HP:0001903	Anemia	HP:0040283	OMIM:131300
411	ARSB	HP:0010049	Short metacarpal	-	OMIM:615777
411	ARSB	HP:0000684	Delayed eruption of teeth	16/28	OMIM:253200
411	ARSB	HP:0000678	Dental crowding	-	OMIM:615777
411	ARSB	HP:0000670	Carious teeth	13/28	OMIM:253200
411	ARSB	HP:0000670	Carious teeth	-	OMIM:131300
411	ARSB	HP:0011304	Broad thumb	2/7	OMIM:615777
411	ARSB	HP:0000668	Hypodontia	-	OMIM:615777
411	ARSB	HP:0000664	Synophrys	-	OMIM:615777
411	ARSB	HP:0004322	Short stature	28/28	OMIM:253200
411	ARSB	HP:0004396	Poor appetite	-	OMIM:131300
411	ARSB	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
411	ARSB	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
411	ARSB	HP:0003016	Metaphyseal widening	-	OMIM:253200
411	ARSB	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
411	ARSB	HP:0003026	Short long bone	7/7	OMIM:615777
411	ARSB	HP:0003025	Metaphyseal irregularity	-	OMIM:253200
411	ARSB	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
411	ARSB	HP:0011410	Caesarean section	16/28	OMIM:253200
411	ARSB	HP:0000767	Pectus excavatum	2/7	OMIM:615777
411	ARSB	HP:0000768	Pectus carinatum	22/28	OMIM:253200
411	ARSB	HP:0000768	Pectus carinatum	1/7	OMIM:615777
411	ARSB	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
411	ARSB	HP:0000750	Delayed speech and language development	-	OMIM:615777
411	ARSB	HP:0011463	Childhood onset	9/25	OMIM:253200
411	ARSB	HP:0011461	Fetal onset	7/7	OMIM:615777
411	ARSB	HP:0000774	Narrow chest	2/7	OMIM:615777
411	ARSB	HP:0000926	Platyspondyly	1/7	OMIM:615777
411	ARSB	HP:0003180	Flat acetabular roof	-	OMIM:615777
411	ARSB	HP:0004482	Relative macrocephaly	-	OMIM:615777
411	ARSB	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
411	ARSB	HP:0000884	Prominent sternum	-	OMIM:253200
411	ARSB	HP:0000885	Broad ribs	-	OMIM:253200
411	ARSB	HP:0000823	Delayed puberty	-	OMIM:131300
411	ARSB	HP:0000894	Short clavicles	-	OMIM:615777
411	ARSB	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
411	ARSB	HP:0003274	Hypoplastic acetabulae	-	OMIM:253200
411	ARSB	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
411	ARSB	HP:0000943	Dysostosis multiplex	-	OMIM:253200
411	ARSB	HP:0000286	Epicanthus	1/7	OMIM:615777
411	ARSB	HP:0000280	Coarse facial features	28/28	OMIM:253200
411	ARSB	HP:0000280	Coarse facial features	2/7	OMIM:615777
411	ARSB	HP:0000256	Macrocephaly	19/28	OMIM:253200
411	ARSB	HP:0000268	Dolichocephaly	-	OMIM:253200
411	ARSB	HP:0002829	Arthralgia	22/28	OMIM:253200
411	ARSB	HP:0002827	Hip dislocation	3/7	OMIM:615777
411	ARSB	HP:0000238	Hydrocephalus	-	OMIM:253200
411	ARSB	HP:0000252	Microcephaly	-	OMIM:615777
411	ARSB	HP:0002857	Genu valgum	-	OMIM:131300
411	ARSB	HP:0002857	Genu valgum	24/28	OMIM:253200
411	ARSB	HP:0002869	Flared iliac wing	-	OMIM:253200
411	ARSB	HP:0001537	Umbilical hernia	26/28	OMIM:253200
411	ARSB	HP:0001533	Slender build	-	OMIM:131300
411	ARSB	HP:0002866	Hypoplastic iliac wing	-	OMIM:253200
411	ARSB	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
411	ARSB	HP:0007807	Optic nerve compression	-	OMIM:131300
411	ARSB	HP:0012368	Flat face	7/7	OMIM:615777
411	ARSB	HP:0002938	Lumbar hyperlordosis	16/28	OMIM:253200
411	ARSB	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
411	ARSB	HP:0005180	Tricuspid regurgitation	20/28	OMIM:253200
411	ARSB	HP:0000365	Hearing impairment	10/67	OMIM:131300
411	ARSB	HP:0000365	Hearing impairment	15/28	OMIM:253200
411	ARSB	HP:0000343	Long philtrum	1/7	OMIM:615777
411	ARSB	HP:0011001	Increased bone mineral density	-	OMIM:131300
411	ARSB	HP:0000311	Round face	2/7	OMIM:615777
411	ARSB	HP:0001653	Mitral regurgitation	27/28	OMIM:253200
411	ARSB	HP:0002970	Genu varum	-	OMIM:615777
411	ARSB	HP:0001638	Cardiomyopathy	-	OMIM:253200
411	ARSB	HP:0000303	Mandibular prognathia	-	OMIM:131300
411	ARSB	HP:0007957	Corneal opacity	28/28	OMIM:253200
411	ARSB	HP:0001718	Mitral stenosis	2/28	OMIM:253200
411	ARSB	HP:0005280	Depressed nasal bridge	-	OMIM:253200
411	ARSB	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
411	ARSB	HP:0012450	Chronic constipation	2/28	OMIM:253200
411	ARSB	HP:0000470	Short neck	1/7	OMIM:615777
411	ARSB	HP:0001769	Broad foot	HP:0040283	OMIM:615777
411	ARSB	HP:0001763	Pes planus	1/7	OMIM:615777
411	ARSB	HP:0001744	Splenomegaly	24/28	OMIM:253200
411	ARSB	HP:0001840	Metatarsus adductus	-	OMIM:615777
411	ARSB	HP:0000520	Proptosis	2/4	OMIM:131300
411	ARSB	HP:0000520	Proptosis	7/7	OMIM:615777
411	ARSB	HP:0000501	Glaucoma	2/28	OMIM:253200
411	ARSB	HP:0000592	Blue sclerae	2/7	OMIM:615777
411	ARSB	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
411	ARSB	HP:0012514	Lower limb pain	4/4	OMIM:131300
412	STS	HP:0002488	Acute leukemia	HP:0040283	ORPHA:281090
412	STS	HP:0010866	Abdominal wall defect	HP:0040283	ORPHA:281090
412	STS	HP:0001270	Motor delay	HP:0040283	ORPHA:461
412	STS	HP:0001250	Seizure	HP:0040283	ORPHA:281090
412	STS	HP:0002577	Abnormal stomach morphology	HP:0040283	ORPHA:281090
412	STS	HP:0001249	Intellectual disability	HP:0040282	ORPHA:281090
412	STS	HP:0001249	Intellectual disability	HP:0040284	ORPHA:461
412	STS	HP:0001249	Intellectual disability	2/35	OMIM:308100
412	STS	HP:0001263	Global developmental delay	HP:0040282	ORPHA:281090
412	STS	HP:0007431	Congenital ichthyosiform erythroderma	-	OMIM:308100
412	STS	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:281090
412	STS	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:281090
412	STS	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:461
412	STS	HP:0000028	Cryptorchidism	4/35	OMIM:308100
412	STS	HP:0007549	Desquamation of skin soon after birth	HP:0040283	ORPHA:461
412	STS	HP:0001339	Lissencephaly	HP:0040283	ORPHA:281090
412	STS	HP:0000135	Hypogonadism	HP:0040283	ORPHA:281090
412	STS	HP:0000122	Unilateral renal agenesis	HP:0040283	ORPHA:281090
412	STS	HP:0001419	X-linked recessive inheritance	-	OMIM:308100
412	STS	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:461
412	STS	HP:0033252	Palmar hyperlinearity	5/35	OMIM:308100
412	STS	HP:0003593	Infantile onset	8/35	OMIM:308100
412	STS	HP:0003577	Congenital onset	15/35	OMIM:308100
412	STS	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:281090
412	STS	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:461
412	STS	HP:0002381	Aphasia	HP:0040282	ORPHA:281090
412	STS	HP:0100617	Testicular seminoma	HP:0040283	ORPHA:281090
412	STS	HP:0010788	Testicular neoplasm	2/76	OMIM:308100
412	STS	HP:0003623	Neonatal onset	9/35	OMIM:308100
412	STS	HP:0004298	Abnormality of the abdominal wall	HP:0040283	ORPHA:281090
412	STS	HP:0004322	Short stature	HP:0040283	ORPHA:281090
412	STS	HP:0000717	Autism	HP:0040283	ORPHA:281090
412	STS	HP:0000717	Autism	HP:0040283	ORPHA:461
412	STS	HP:0011463	Childhood onset	3/35	OMIM:308100
412	STS	HP:0000982	Palmoplantar keratoderma	3/35	OMIM:308100
412	STS	HP:0000958	Dry skin	HP:0040281	ORPHA:461
412	STS	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:281090
412	STS	HP:0000966	Hypohidrosis	12/35	OMIM:308100
412	STS	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:461
412	STS	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:281090
412	STS	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:461
412	STS	HP:0008064	Ichthyosis	HP:0040281	ORPHA:281090
412	STS	HP:0008064	Ichthyosis	35/35	OMIM:308100
412	STS	HP:0008064	Ichthyosis	HP:0040281	ORPHA:461
412	STS	HP:0007759	Opacification of the corneal stroma	HP:0040282	ORPHA:461
412	STS	HP:0007759	Opacification of the corneal stroma	0/35	OMIM:308100
412	STS	HP:0007957	Corneal opacity	HP:0040282	ORPHA:281090
415	ARSL	HP:0009928	Thick nasal alae	HP:0040283	ORPHA:79345
415	ARSL	HP:0010880	Increased nuchal translucency	-	ORPHA:79345
415	ARSL	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:79345
415	ARSL	HP:0009882	Short distal phalanx of finger	-	OMIM:302950
415	ARSL	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
415	ARSL	HP:0001293	Cranial nerve compression	-	OMIM:131300
415	ARSL	HP:0001252	Hypotonia	2/7	OMIM:615777
415	ARSL	HP:0001249	Intellectual disability	5/7	OMIM:615777
415	ARSL	HP:0001263	Global developmental delay	-	OMIM:302950
415	ARSL	HP:0001263	Global developmental delay	HP:0040283	ORPHA:79345
415	ARSL	HP:0001263	Global developmental delay	-	OMIM:615777
415	ARSL	HP:0008754	Laryngeal calcification	HP:0040283	ORPHA:79345
415	ARSL	HP:0002515	Waddling gait	54/102	OMIM:131300
415	ARSL	HP:0001382	Joint hypermobility	-	OMIM:615777
415	ARSL	HP:0002694	Sclerosis of skull base	-	OMIM:131300
415	ARSL	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:79345
415	ARSL	HP:0008897	Postnatal growth retardation	-	OMIM:615777
415	ARSL	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
415	ARSL	HP:0001324	Muscle weakness	40/96	OMIM:131300
415	ARSL	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
415	ARSL	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
415	ARSL	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
415	ARSL	HP:0002650	Scoliosis	12/14	OMIM:131300
415	ARSL	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
415	ARSL	HP:0002643	Neonatal respiratory distress	HP:0040283	ORPHA:79345
415	ARSL	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
415	ARSL	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
415	ARSL	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
415	ARSL	HP:0000175	Cleft palate	2/7	OMIM:615777
415	ARSL	HP:0000135	Hypogonadism	-	OMIM:302950
415	ARSL	HP:0025426	Abnormal bronchus morphology	HP:0040283	ORPHA:79345
415	ARSL	HP:0002777	Tracheal stenosis	HP:0040283	ORPHA:79345
415	ARSL	HP:0002789	Tachypnea	HP:0040283	ORPHA:79345
415	ARSL	HP:0002787	Tracheal calcification	HP:0040283	ORPHA:79345
415	ARSL	HP:0001419	X-linked recessive inheritance	-	OMIM:302950
415	ARSL	HP:0002020	Gastroesophageal reflux	HP:0040284	ORPHA:79345
415	ARSL	HP:0004695	Calcaneal epiphyseal stippling	HP:0040283	ORPHA:79345
415	ARSL	HP:0002000	Short columella	HP:0040282	ORPHA:79345
415	ARSL	HP:0003320	C1-C2 subluxation	HP:0040283	ORPHA:79345
415	ARSL	HP:0003316	Butterfly vertebrae	HP:0040283	ORPHA:79345
415	ARSL	HP:0002099	Asthma	HP:0040283	ORPHA:79345
415	ARSL	HP:0003388	Easy fatigability	36/76	OMIM:131300
415	ARSL	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
415	ARSL	HP:0003467	Atlantoaxial instability	HP:0040283	ORPHA:79345
415	ARSL	HP:0003417	Coronal cleft vertebrae	HP:0040283	ORPHA:79345
415	ARSL	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:79345
415	ARSL	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040283	ORPHA:79345
415	ARSL	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:79345
415	ARSL	HP:0008417	Vertebral hypoplasia	HP:0040283	ORPHA:79345
415	ARSL	HP:0010666	Hypoplasia of the anterior nasal spine	HP:0040282	ORPHA:79345
415	ARSL	HP:0010655	Epiphyseal stippling	-	OMIM:302950
415	ARSL	HP:0010655	Epiphyseal stippling	HP:0040282	ORPHA:79345
415	ARSL	HP:0010646	Cervical spine instability	HP:0040283	ORPHA:79345
415	ARSL	HP:0011968	Feeding difficulties	HP:0040284	ORPHA:79345
415	ARSL	HP:0003510	Severe short stature	7/7	OMIM:615777
415	ARSL	HP:0003508	Proportionate short stature	HP:0040282	ORPHA:79345
415	ARSL	HP:0002341	Cervical cord compression	HP:0040283	ORPHA:79345
415	ARSL	HP:0002315	Headache	-	OMIM:131300
415	ARSL	HP:0004976	Knee dislocation	6/7	OMIM:615777
415	ARSL	HP:0009803	Short phalanx of finger	-	OMIM:615777
415	ARSL	HP:0008469	Cervical vertebral dysplasia	HP:0040283	ORPHA:79345
415	ARSL	HP:0008445	Cervical spinal canal stenosis	HP:0040283	ORPHA:79345
415	ARSL	HP:0009763	Limb pain	63/92	OMIM:131300
415	ARSL	HP:0008434	Hypoplastic cervical vertebrae	HP:0040283	ORPHA:79345
415	ARSL	HP:0008420	Punctate vertebral calcifications	HP:0040282	ORPHA:79345
415	ARSL	HP:0003621	Juvenile onset	-	OMIM:131300
415	ARSL	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
415	ARSL	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
415	ARSL	HP:6001056	Out-toeing	-	OMIM:131300
415	ARSL	HP:0000651	Diplopia	-	OMIM:131300
415	ARSL	HP:0001956	Truncal obesity	2/7	OMIM:615777
415	ARSL	HP:0000609	Optic nerve hypoplasia	HP:0040284	ORPHA:79345
415	ARSL	HP:0001903	Anemia	HP:0040283	OMIM:131300
415	ARSL	HP:0010049	Short metacarpal	-	OMIM:615777
415	ARSL	HP:0000678	Dental crowding	-	OMIM:615777
415	ARSL	HP:0000670	Carious teeth	-	OMIM:131300
415	ARSL	HP:0011304	Broad thumb	2/7	OMIM:615777
415	ARSL	HP:0000668	Hypodontia	-	OMIM:615777
415	ARSL	HP:0000664	Synophrys	-	OMIM:615777
415	ARSL	HP:0004322	Short stature	-	OMIM:302950
415	ARSL	HP:0004396	Poor appetite	-	OMIM:131300
415	ARSL	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
415	ARSL	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
415	ARSL	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
415	ARSL	HP:0003026	Short long bone	7/7	OMIM:615777
415	ARSL	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
415	ARSL	HP:0009107	Abnormal ossification involving the femoral head and neck	HP:0040283	ORPHA:79345
415	ARSL	HP:0000767	Pectus excavatum	2/7	OMIM:615777
415	ARSL	HP:0000768	Pectus carinatum	1/7	OMIM:615777
415	ARSL	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
415	ARSL	HP:0000750	Delayed speech and language development	-	OMIM:615777
415	ARSL	HP:0010171	Epiphyseal stippling of toe phalanges	HP:0040283	ORPHA:79345
415	ARSL	HP:0011461	Fetal onset	7/7	OMIM:615777
415	ARSL	HP:0000774	Narrow chest	2/7	OMIM:615777
415	ARSL	HP:0004415	Pulmonary artery stenosis	HP:0040284	ORPHA:79345
415	ARSL	HP:0003196	Short nose	HP:0040281	ORPHA:79345
415	ARSL	HP:0003196	Short nose	-	OMIM:302950
415	ARSL	HP:0000919	Abnormality of the costochondral junction	HP:0040283	ORPHA:79345
415	ARSL	HP:0000925	Abnormality of the vertebral column	-	OMIM:302950
415	ARSL	HP:0000925	Abnormality of the vertebral column	HP:0040282	ORPHA:79345
415	ARSL	HP:0000926	Platyspondyly	1/7	OMIM:615777
415	ARSL	HP:0003180	Flat acetabular roof	-	OMIM:615777
415	ARSL	HP:0004482	Relative macrocephaly	-	OMIM:615777
415	ARSL	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
415	ARSL	HP:0000823	Delayed puberty	-	OMIM:131300
415	ARSL	HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand	HP:0040283	ORPHA:79345
415	ARSL	HP:0000894	Short clavicles	-	OMIM:615777
415	ARSL	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
415	ARSL	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
415	ARSL	HP:0008064	Ichthyosis	-	OMIM:302950
415	ARSL	HP:0000286	Epicanthus	1/7	OMIM:615777
415	ARSL	HP:0000280	Coarse facial features	2/7	OMIM:615777
415	ARSL	HP:0007766	Optic disc hypoplasia	HP:0040284	ORPHA:79345
415	ARSL	HP:0002827	Hip dislocation	3/7	OMIM:615777
415	ARSL	HP:0000252	Microcephaly	-	OMIM:302950
415	ARSL	HP:0000252	Microcephaly	-	OMIM:615777
415	ARSL	HP:0002857	Genu valgum	-	OMIM:131300
415	ARSL	HP:0002871	Central apnea	HP:0040283	ORPHA:79345
415	ARSL	HP:0001533	Slender build	-	OMIM:131300
415	ARSL	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
415	ARSL	HP:0007807	Optic nerve compression	-	OMIM:131300
415	ARSL	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:79345
415	ARSL	HP:0012368	Flat face	7/7	OMIM:615777
415	ARSL	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
415	ARSL	HP:0002947	Cervical kyphosis	HP:0040283	ORPHA:79345
415	ARSL	HP:0000365	Hearing impairment	-	OMIM:302950
415	ARSL	HP:0000365	Hearing impairment	10/67	OMIM:131300
415	ARSL	HP:0000343	Long philtrum	1/7	OMIM:615777
415	ARSL	HP:0011001	Increased bone mineral density	-	OMIM:131300
415	ARSL	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:79345
415	ARSL	HP:0000311	Round face	2/7	OMIM:615777
415	ARSL	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:79345
415	ARSL	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:79345
415	ARSL	HP:0002970	Genu varum	-	OMIM:615777
415	ARSL	HP:0001631	Atrial septal defect	HP:0040284	ORPHA:79345
415	ARSL	HP:0000303	Mandibular prognathia	-	OMIM:131300
415	ARSL	HP:0005280	Depressed nasal bridge	-	OMIM:302950
415	ARSL	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
415	ARSL	HP:0000458	Anosmia	-	OMIM:302950
415	ARSL	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:79345
415	ARSL	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:79345
415	ARSL	HP:0000470	Short neck	1/7	OMIM:615777
415	ARSL	HP:0001769	Broad foot	HP:0040283	OMIM:615777
415	ARSL	HP:0001763	Pes planus	1/7	OMIM:615777
415	ARSL	HP:0000420	Short nasal septum	-	OMIM:302950
415	ARSL	HP:0001742	Nasal congestion	HP:0040283	ORPHA:79345
415	ARSL	HP:0000410	Mixed hearing impairment	HP:0040282	ORPHA:79345
415	ARSL	HP:3000052	Abnormal hyoid bone morphology	HP:0040283	ORPHA:79345
415	ARSL	HP:0000518	Cataract	HP:0040284	ORPHA:79345
415	ARSL	HP:0000518	Cataract	-	OMIM:302950
415	ARSL	HP:0001840	Metatarsus adductus	-	OMIM:615777
415	ARSL	HP:0001857	Short distal phalanx of toe	HP:0040282	ORPHA:79345
415	ARSL	HP:0000520	Proptosis	2/4	OMIM:131300
415	ARSL	HP:0000520	Proptosis	7/7	OMIM:615777
415	ARSL	HP:0000592	Blue sclerae	2/7	OMIM:615777
415	ARSL	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
415	ARSL	HP:0012514	Lower limb pain	4/4	OMIM:131300
421	ARVCF	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:567
421	ARVCF	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:567
421	ARVCF	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:567
421	ARVCF	HP:0002435	Meningocele	HP:0040282	ORPHA:567
421	ARVCF	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:567
421	ARVCF	HP:0002414	Spina bifida	HP:0040283	ORPHA:567
421	ARVCF	HP:0001281	Tetany	HP:0040282	ORPHA:567
421	ARVCF	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:567
421	ARVCF	HP:0001250	Seizure	HP:0040283	ORPHA:567
421	ARVCF	HP:0001252	Hypotonia	HP:0040281	ORPHA:567
421	ARVCF	HP:0001249	Intellectual disability	HP:0040283	ORPHA:567
421	ARVCF	HP:0001263	Global developmental delay	HP:0040282	ORPHA:567
421	ARVCF	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:567
421	ARVCF	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:567
421	ARVCF	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:567
421	ARVCF	HP:0001369	Arthritis	HP:0040283	ORPHA:567
421	ARVCF	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:567
421	ARVCF	HP:0000047	Hypospadias	HP:0040283	ORPHA:567
421	ARVCF	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:567
421	ARVCF	HP:0002691	Platybasia	HP:0040281	ORPHA:567
421	ARVCF	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:567
421	ARVCF	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:567
421	ARVCF	HP:0001328	Specific learning disability	HP:0040282	ORPHA:567
421	ARVCF	HP:0002650	Scoliosis	HP:0040282	ORPHA:567
421	ARVCF	HP:0002619	Varicose veins	HP:0040283	ORPHA:567
421	ARVCF	HP:0001300	Parkinsonism	HP:0040283	ORPHA:567
421	ARVCF	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:567
421	ARVCF	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:567
421	ARVCF	HP:0000160	Narrow mouth	HP:0040283	ORPHA:567
421	ARVCF	HP:0000175	Cleft palate	HP:0040281	ORPHA:567
421	ARVCF	HP:0000113	Polycystic kidney dysplasia	HP:0040283	ORPHA:567
421	ARVCF	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:567
421	ARVCF	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:567
421	ARVCF	HP:0002023	Anal atresia	HP:0040283	ORPHA:567
421	ARVCF	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:567
421	ARVCF	HP:0002019	Constipation	HP:0040282	ORPHA:567
421	ARVCF	HP:0003326	Myalgia	HP:0040282	ORPHA:567
421	ARVCF	HP:0002099	Asthma	HP:0040283	ORPHA:567
421	ARVCF	HP:0002139	Arrhinencephaly	HP:0040283	ORPHA:567
421	ARVCF	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:567
421	ARVCF	HP:0011840	Abnormality of T cell physiology	HP:0040282	ORPHA:567
421	ARVCF	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:567
421	ARVCF	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:567
421	ARVCF	HP:0100765	Abnormality of the tonsils	HP:0040282	ORPHA:567
421	ARVCF	HP:0100735	Hypertensive crisis	HP:0040283	ORPHA:567
421	ARVCF	HP:0100750	Atelectasis	HP:0040283	ORPHA:567
421	ARVCF	HP:0100753	Schizophrenia	HP:0040283	ORPHA:567
421	ARVCF	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:567
421	ARVCF	HP:0001051	Seborrheic dermatitis	HP:0040282	ORPHA:567
421	ARVCF	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:567
421	ARVCF	HP:0002381	Aphasia	HP:0040281	ORPHA:567
421	ARVCF	HP:0001061	Acne	HP:0040282	ORPHA:567
421	ARVCF	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:567
421	ARVCF	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:567
421	ARVCF	HP:0000648	Optic atrophy	HP:0040283	ORPHA:567
421	ARVCF	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:567
421	ARVCF	HP:0000600	Abnormality of the pharynx	HP:0040281	ORPHA:567
421	ARVCF	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:567
421	ARVCF	HP:0011324	Multiple suture craniosynostosis	HP:0040283	ORPHA:567
421	ARVCF	HP:0000670	Carious teeth	HP:0040282	ORPHA:567
421	ARVCF	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:567
421	ARVCF	HP:0004322	Short stature	HP:0040282	ORPHA:567
421	ARVCF	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:567
421	ARVCF	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:567
421	ARVCF	HP:0000765	Abnormal thorax morphology	HP:0040283	ORPHA:567
421	ARVCF	HP:0000739	Anxiety	HP:0040282	ORPHA:567
421	ARVCF	HP:0000716	Depression	HP:0040283	ORPHA:567
421	ARVCF	HP:0000717	Autism	HP:0040283	ORPHA:567
421	ARVCF	HP:0000708	Atypical behavior	HP:0040283	ORPHA:567
421	ARVCF	HP:0011496	Corneal neovascularization	HP:0040282	ORPHA:567
421	ARVCF	HP:0000778	Hypoplasia of the thymus	HP:0040281	ORPHA:567
421	ARVCF	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:567
421	ARVCF	HP:0000836	Hyperthyroidism	HP:0040283	ORPHA:567
421	ARVCF	HP:0000829	Hypoparathyroidism	HP:0040282	ORPHA:567
421	ARVCF	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:567
421	ARVCF	HP:0011662	Tricuspid atresia	HP:0040283	ORPHA:567
421	ARVCF	HP:0000979	Purpura	HP:0040283	ORPHA:567
421	ARVCF	HP:0000286	Epicanthus	HP:0040281	ORPHA:567
421	ARVCF	HP:0000262	Turricephaly	HP:0040283	ORPHA:567
421	ARVCF	HP:0000276	Long face	HP:0040282	ORPHA:567
421	ARVCF	HP:0000272	Malar flattening	HP:0040282	ORPHA:567
421	ARVCF	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:567
421	ARVCF	HP:0000252	Microcephaly	HP:0040283	ORPHA:567
421	ARVCF	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:567
421	ARVCF	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:567
421	ARVCF	HP:0001508	Failure to thrive	HP:0040283	ORPHA:567
421	ARVCF	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:567
421	ARVCF	HP:0001513	Obesity	HP:0040283	ORPHA:567
421	ARVCF	HP:0006510	Chronic pulmonary obstruction	HP:0040283	ORPHA:567
421	ARVCF	HP:0000385	Small earlobe	HP:0040282	ORPHA:567
421	ARVCF	HP:0000396	Overfolded helix	HP:0040282	ORPHA:567
421	ARVCF	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:567
421	ARVCF	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:567
421	ARVCF	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:567
421	ARVCF	HP:0002901	Hypocalcemia	HP:0040282	ORPHA:567
421	ARVCF	HP:0000365	Hearing impairment	HP:0040282	ORPHA:567
421	ARVCF	HP:0000369	Low-set ears	HP:0040281	ORPHA:567
421	ARVCF	HP:0000343	Long philtrum	HP:0040282	ORPHA:567
421	ARVCF	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:567
421	ARVCF	HP:0000347	Micrognathia	HP:0040283	ORPHA:567
421	ARVCF	HP:0012303	Abnormal aortic arch morphology	HP:0040281	ORPHA:567
421	ARVCF	HP:0000316	Hypertelorism	HP:0040283	ORPHA:567
421	ARVCF	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:567
421	ARVCF	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:567
421	ARVCF	HP:0001660	Truncus arteriosus	HP:0040281	ORPHA:567
421	ARVCF	HP:0000322	Short philtrum	HP:0040283	ORPHA:567
421	ARVCF	HP:0002960	Autoimmunity	HP:0040283	ORPHA:567
421	ARVCF	HP:0001629	Ventricular septal defect	HP:0040281	ORPHA:567
421	ARVCF	HP:0001641	Abnormal pulmonary valve morphology	HP:0040281	ORPHA:567
421	ARVCF	HP:0001636	Tetralogy of Fallot	HP:0040281	ORPHA:567
421	ARVCF	HP:0001631	Atrial septal defect	HP:0040281	ORPHA:567
421	ARVCF	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:567
421	ARVCF	HP:0000486	Strabismus	HP:0040283	ORPHA:567
421	ARVCF	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:567
421	ARVCF	HP:0000492	Abnormal eyelid morphology	HP:0040282	ORPHA:567
421	ARVCF	HP:0000470	Short neck	HP:0040282	ORPHA:567
421	ARVCF	HP:0000453	Choanal atresia	HP:0040283	ORPHA:567
421	ARVCF	HP:0000414	Bulbous nose	HP:0040281	ORPHA:567
421	ARVCF	HP:0001744	Splenomegaly	HP:0040283	ORPHA:567
421	ARVCF	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:567
421	ARVCF	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:567
421	ARVCF	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:567
421	ARVCF	HP:0000518	Cataract	HP:0040283	ORPHA:567
421	ARVCF	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:567
421	ARVCF	HP:0000506	Telecanthus	HP:0040281	ORPHA:567
421	ARVCF	HP:0000508	Ptosis	HP:0040282	ORPHA:567
421	ARVCF	HP:0000501	Glaucoma	HP:0040283	ORPHA:567
421	ARVCF	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:567
421	ARVCF	HP:0000568	Microphthalmia	HP:0040283	ORPHA:567
421	ARVCF	HP:0001872	Abnormality of thrombocytes	HP:0040283	ORPHA:567
421	ARVCF	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:567
427	ASAH1	HP:0001187	Hyperextensibility of the finger joints	1/1	OMIM:228000
427	ASAH1	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:333
427	ASAH1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040283	ORPHA:2590
427	ASAH1	HP:0007269	Spinal muscular atrophy	-	OMIM:159950
427	ASAH1	HP:0003701	Proximal muscle weakness	6/6	OMIM:159950
427	ASAH1	HP:0001270	Motor delay	-	OMIM:228000
427	ASAH1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:2590
427	ASAH1	HP:0001288	Gait disturbance	6/6	OMIM:159950
427	ASAH1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:2590
427	ASAH1	HP:0001284	Areflexia	-	OMIM:159950
427	ASAH1	HP:0001250	Seizure	HP:0040283	ORPHA:333
427	ASAH1	HP:0001250	Seizure	HP:0040280	ORPHA:2590
427	ASAH1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:333
427	ASAH1	HP:0001249	Intellectual disability	HP:0040284	ORPHA:2590
427	ASAH1	HP:0001249	Intellectual disability	-	OMIM:228000
427	ASAH1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:333
427	ASAH1	HP:0001257	Spasticity	HP:0040283	ORPHA:333
427	ASAH1	HP:0007340	Lower limb muscle weakness	HP:0040281	ORPHA:2590
427	ASAH1	HP:0002540	Inability to walk	HP:0040283	ORPHA:2590
427	ASAH1	HP:0002515	Waddling gait	HP:0040283	ORPHA:2590
427	ASAH1	HP:0001399	Hepatic failure	HP:0040284	ORPHA:333
427	ASAH1	HP:0001395	Hepatic fibrosis	HP:0040284	ORPHA:333
427	ASAH1	HP:0001371	Flexion contracture	-	ORPHA:2590
427	ASAH1	HP:0001371	Flexion contracture	HP:0040281	ORPHA:333
427	ASAH1	HP:0001369	Arthritis	HP:0040281	ORPHA:333
427	ASAH1	HP:0001369	Arthritis	-	OMIM:228000
427	ASAH1	HP:0001386	Joint swelling	HP:0040281	ORPHA:333
427	ASAH1	HP:0001386	Joint swelling	1/1	OMIM:228000
427	ASAH1	HP:0025392	Nodular pattern on pulmonary HRCT	HP:0040283	ORPHA:333
427	ASAH1	HP:0007470	Periarticular subcutaneous nodules	-	OMIM:228000
427	ASAH1	HP:0007470	Periarticular subcutaneous nodules	HP:0040281	ORPHA:333
427	ASAH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:159950
427	ASAH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:228000
427	ASAH1	HP:0001337	Tremor	3/6	OMIM:159950
427	ASAH1	HP:0001337	Tremor	HP:0040282	ORPHA:2590
427	ASAH1	HP:0001336	Myoclonus	HP:0040281	ORPHA:2590
427	ASAH1	HP:0001336	Myoclonus	-	OMIM:159950
427	ASAH1	HP:0001336	Myoclonus	HP:0040283	ORPHA:333
427	ASAH1	HP:0001308	Tongue fasciculations	3/6	OMIM:159950
427	ASAH1	HP:0002650	Scoliosis	2/6	OMIM:159950
427	ASAH1	HP:0002650	Scoliosis	HP:0040283	ORPHA:2590
427	ASAH1	HP:0001482	Subcutaneous nodule	1/1	OMIM:228000
427	ASAH1	HP:0008947	Floppy infant	HP:0040282	ORPHA:333
427	ASAH1	HP:0008955	Progressive distal muscular atrophy	-	OMIM:159950
427	ASAH1	HP:0025423	Abnormal larynx morphology	HP:0040283	ORPHA:333
427	ASAH1	HP:0025405	Visual fixation instability	HP:0040283	ORPHA:333
427	ASAH1	HP:0002788	Recurrent upper respiratory tract infections	HP:0040283	ORPHA:333
427	ASAH1	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:333
427	ASAH1	HP:0001433	Hepatosplenomegaly	-	ORPHA:2590
427	ASAH1	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:159950
427	ASAH1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:2590
427	ASAH1	HP:0002716	Lymphadenopathy	HP:0040284	ORPHA:333
427	ASAH1	HP:0002028	Chronic diarrhea	HP:0040284	ORPHA:333
427	ASAH1	HP:0002015	Dysphagia	1/6	OMIM:159950
427	ASAH1	HP:0002015	Dysphagia	HP:0040284	ORPHA:2590
427	ASAH1	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:333
427	ASAH1	HP:0002098	Respiratory distress	HP:0040283	ORPHA:333
427	ASAH1	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:333
427	ASAH1	HP:0002093	Respiratory insufficiency	-	OMIM:228000
427	ASAH1	HP:0003391	Gowers sign	-	OMIM:159950
427	ASAH1	HP:0002123	Generalized myoclonic seizure	3/6	OMIM:159950
427	ASAH1	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:2590
427	ASAH1	HP:0002100	Recurrent aspiration pneumonia	HP:0040282	ORPHA:2590
427	ASAH1	HP:0003444	EMG: chronic denervation signs	HP:0040282	ORPHA:333
427	ASAH1	HP:0002197	Generalized-onset seizure	-	OMIM:159950
427	ASAH1	HP:0011842	Abnormal skeletal morphology	HP:0040282	ORPHA:333
427	ASAH1	HP:0010501	Limitation of knee mobility	1/1	OMIM:228000
427	ASAH1	HP:0002240	Hepatomegaly	-	OMIM:228000
427	ASAH1	HP:0002207	Diffuse reticular or finely nodular infiltrations	HP:0040283	ORPHA:333
427	ASAH1	HP:0002205	Recurrent respiratory infections	3/6	OMIM:159950
427	ASAH1	HP:0010729	Cherry red spot of the macula	HP:0040282	ORPHA:333
427	ASAH1	HP:0010729	Cherry red spot of the macula	-	OMIM:228000
427	ASAH1	HP:0100750	Atelectasis	HP:0040283	ORPHA:333
427	ASAH1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:333
427	ASAH1	HP:0010628	Facial palsy	3/6	OMIM:159950
427	ASAH1	HP:0002385	Paraparesis	HP:0040284	ORPHA:333
427	ASAH1	HP:0002398	Degeneration of anterior horn cells	-	OMIM:159950
427	ASAH1	HP:0002366	Abnormal lower motor neuron morphology	HP:0040281	ORPHA:2590
427	ASAH1	HP:0002359	Frequent falls	3/6	OMIM:159950
427	ASAH1	HP:0002359	Frequent falls	HP:0040282	ORPHA:2590
427	ASAH1	HP:0002376	Developmental regression	HP:0040283	ORPHA:333
427	ASAH1	HP:0003676	Progressive	-	OMIM:159950
427	ASAH1	HP:0003676	Progressive	-	OMIM:228000
427	ASAH1	HP:0025097	Eyelid myoclonus	HP:0040283	ORPHA:2590
427	ASAH1	HP:0200036	Skin nodule	-	ORPHA:2590
427	ASAH1	HP:0010819	Atonic seizure	HP:0040282	ORPHA:2590
427	ASAH1	HP:0009811	Abnormality of the elbow	HP:0040283	ORPHA:333
427	ASAH1	HP:0009771	Osteolytic defects of the phalanges of the hand	1/1	OMIM:228000
427	ASAH1	HP:0002300	Mutism	HP:0040283	ORPHA:333
427	ASAH1	HP:0002312	Clumsiness	HP:0040282	ORPHA:2590
427	ASAH1	HP:0003640	CNS foam cells	HP:0040282	ORPHA:333
427	ASAH1	HP:0003621	Juvenile onset	5/6	OMIM:159950
427	ASAH1	HP:0034053	Decreased acid ceramidase activity	-	OMIM:228000
427	ASAH1	HP:0000639	Nystagmus	HP:0040284	ORPHA:333
427	ASAH1	HP:0001954	Recurrent fever	HP:0040283	ORPHA:333
427	ASAH1	HP:0001954	Recurrent fever	1/1	OMIM:228000
427	ASAH1	HP:0000608	Macular degeneration	HP:0040283	ORPHA:333
427	ASAH1	HP:0001903	Anemia	HP:0040284	ORPHA:333
427	ASAH1	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:333
427	ASAH1	HP:0004322	Short stature	HP:0040283	ORPHA:333
427	ASAH1	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:2590
427	ASAH1	HP:0003049	Ulnar deviation of the wrist	1/1	OMIM:228000
427	ASAH1	HP:0003019	Abnormality of the wrist	HP:0040283	ORPHA:333
427	ASAH1	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:333
427	ASAH1	HP:0000737	Irritability	-	OMIM:228000
427	ASAH1	HP:0000726	Dementia	-	OMIM:159950
427	ASAH1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2590
427	ASAH1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:333
427	ASAH1	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:333
427	ASAH1	HP:0011463	Childhood onset	1/6	OMIM:159950
427	ASAH1	HP:0011463	Childhood onset	1/1	OMIM:228000
427	ASAH1	HP:0009134	Osteolysis involving bones of the feet	1/1	OMIM:228000
427	ASAH1	HP:0003236	Elevated circulating creatine kinase concentration	0/6	OMIM:159950
427	ASAH1	HP:0003202	Skeletal muscle atrophy	6/6	OMIM:159950
427	ASAH1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:333
427	ASAH1	HP:0045084	Limb myoclonus	HP:0040283	ORPHA:2590
427	ASAH1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:333
427	ASAH1	HP:0040139	Lipogranulomatosis	-	OMIM:228000
427	ASAH1	HP:0009381	Short finger	HP:0040284	ORPHA:333
427	ASAH1	HP:0007759	Opacification of the corneal stroma	HP:0040284	ORPHA:333
427	ASAH1	HP:0002815	Abnormality of the knee	HP:0040283	ORPHA:333
427	ASAH1	HP:0002829	Arthralgia	HP:0040282	ORPHA:333
427	ASAH1	HP:0002829	Arthralgia	1/1	OMIM:228000
427	ASAH1	HP:0002878	Respiratory failure	HP:0040283	ORPHA:2590
427	ASAH1	HP:0032667	Myoclonic status epilepticus	HP:0040283	ORPHA:2590
427	ASAH1	HP:0001541	Ascites	HP:0040284	ORPHA:333
427	ASAH1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:333
427	ASAH1	HP:0001508	Failure to thrive	-	OMIM:228000
427	ASAH1	HP:0006511	Laryngeal stridor	HP:0040283	ORPHA:333
427	ASAH1	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:333
427	ASAH1	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:2590
427	ASAH1	HP:0006575	Intrahepatic cholestasis with episodic jaundice	HP:0040284	ORPHA:333
427	ASAH1	HP:0001609	Hoarse voice	HP:0040281	ORPHA:333
427	ASAH1	HP:0001609	Hoarse voice	1/1	OMIM:228000
427	ASAH1	HP:0001609	Hoarse voice	-	ORPHA:2590
427	ASAH1	HP:0001618	Dysphonia	HP:0040283	ORPHA:333
427	ASAH1	HP:0001615	Hoarse cry	HP:0040282	ORPHA:333
427	ASAH1	HP:0001615	Hoarse cry	-	OMIM:228000
427	ASAH1	HP:0001612	Weak cry	HP:0040283	ORPHA:333
427	ASAH1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040284	ORPHA:333
427	ASAH1	HP:0001686	Loss of voice	HP:0040284	ORPHA:333
427	ASAH1	HP:0007957	Corneal opacity	HP:0040283	ORPHA:333
427	ASAH1	HP:0011147	Typical absence seizure	HP:0040282	ORPHA:2590
427	ASAH1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2590
427	ASAH1	HP:0012469	Infantile spasms	HP:0040284	ORPHA:333
427	ASAH1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:333
427	ASAH1	HP:0001789	Hydrops fetalis	HP:0040284	ORPHA:333
427	ASAH1	HP:0001744	Splenomegaly	-	OMIM:228000
427	ASAH1	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:333
427	ASAH1	HP:0001757	High-frequency sensorineural hearing impairment	HP:0040283	ORPHA:2590
427	ASAH1	HP:0005483	Abnormal epiglottis morphology	HP:0040283	ORPHA:333
427	ASAH1	HP:0000502	Abnormal conjunctiva morphology	HP:0040283	ORPHA:333
427	ASAH1	HP:0001831	Short toe	HP:0040284	ORPHA:333
427	ASAH1	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:333
429	ASCL1	HP:0001250	Seizure	HP:0040282	ORPHA:99803
429	ASCL1	HP:0001252	Hypotonia	HP:0040282	ORPHA:99803
429	ASCL1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:99803
429	ASCL1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:99803
429	ASCL1	HP:0005957	Breathing dysregulation	HP:0040281	ORPHA:99803
429	ASCL1	HP:0010536	Central sleep apnea	HP:0040281	ORPHA:99803
429	ASCL1	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:99803
429	ASCL1	HP:0007110	Central hypoventilation	HP:0040281	ORPHA:99803
429	ASCL1	HP:0003005	Ganglioneuroma	HP:0040283	ORPHA:99803
429	ASCL1	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:99803
429	ASCL1	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:99803
429	ASCL1	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:99803
429	ASCL1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:99803
429	ASCL1	HP:0001522	Death in infancy	HP:0040282	ORPHA:99803
429	ASCL1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:99803
429	ASCL1	HP:0001518	Small for gestational age	HP:0040281	ORPHA:99803
429	ASCL1	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040281	ORPHA:99803
429	ASCL1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:99803
429	ASCL1	HP:0000486	Strabismus	HP:0040281	ORPHA:99803
435	ASL	HP:0003777	Pili torti	HP:0040283	ORPHA:23
435	ASL	HP:0009886	Trichorrhexis nodosa	HP:0040283	ORPHA:23
435	ASL	HP:0009886	Trichorrhexis nodosa	-	OMIM:207900
435	ASL	HP:0001270	Motor delay	HP:0040283	ORPHA:23
435	ASL	HP:0001254	Lethargy	HP:0040282	ORPHA:23
435	ASL	HP:0001254	Lethargy	-	OMIM:207900
435	ASL	HP:0001250	Seizure	HP:0040282	ORPHA:23
435	ASL	HP:0001250	Seizure	-	OMIM:207900
435	ASL	HP:0001251	Ataxia	HP:0040282	ORPHA:23
435	ASL	HP:0001251	Ataxia	-	OMIM:207900
435	ASL	HP:0001249	Intellectual disability	HP:0040282	ORPHA:23
435	ASL	HP:0001249	Intellectual disability	-	OMIM:207900
435	ASL	HP:0001263	Global developmental delay	-	OMIM:207900
435	ASL	HP:0001259	Coma	-	OMIM:207900
435	ASL	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:23
435	ASL	HP:0001399	Hepatic failure	HP:0040283	ORPHA:23
435	ASL	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:23
435	ASL	HP:0001395	Hepatic fibrosis	-	OMIM:207900
435	ASL	HP:0001394	Cirrhosis	HP:0040283	ORPHA:23
435	ASL	HP:0008872	Feeding difficulties in infancy	-	OMIM:207900
435	ASL	HP:0032491	Increased circulating argininosuccinic acid	HP:0040282	ORPHA:23
435	ASL	HP:0032491	Increased circulating argininosuccinic acid	-	OMIM:207900
435	ASL	HP:0001332	Dystonia	HP:0040283	ORPHA:23
435	ASL	HP:0001328	Specific learning disability	HP:0040282	ORPHA:23
435	ASL	HP:0001324	Muscle weakness	HP:0040283	ORPHA:23
435	ASL	HP:0000007	Autosomal recessive inheritance	-	OMIM:207900
435	ASL	HP:0001337	Tremor	HP:0040283	ORPHA:23
435	ASL	HP:0032470	Monilethrix	HP:0040282	ORPHA:23
435	ASL	HP:0006280	Chronic pancreatitis	HP:0040283	ORPHA:23
435	ASL	HP:0002789	Tachypnea	HP:0040282	ORPHA:23
435	ASL	HP:0001402	Hepatocellular carcinoma	HP:0040284	ORPHA:23
435	ASL	HP:0003355	Aminoaciduria	HP:0040281	ORPHA:23
435	ASL	HP:0003355	Aminoaciduria	-	OMIM:207900
435	ASL	HP:0002014	Diarrhea	HP:0040283	ORPHA:23
435	ASL	HP:0002013	Vomiting	HP:0040282	ORPHA:23
435	ASL	HP:0002013	Vomiting	-	OMIM:207900
435	ASL	HP:0005961	Hypoargininemia	HP:0040281	ORPHA:23
435	ASL	HP:0005961	Hypoargininemia	-	OMIM:207900
435	ASL	HP:0002038	Protein avoidance	-	OMIM:207900
435	ASL	HP:0002155	Hypertriglyceridemia	HP:0040283	ORPHA:23
435	ASL	HP:0002181	Cerebral edema	-	OMIM:207900
435	ASL	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:23
435	ASL	HP:0002240	Hepatomegaly	-	OMIM:207900
435	ASL	HP:0002232	Patchy alopecia	HP:0040283	ORPHA:23
435	ASL	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:23
435	ASL	HP:0002299	Brittle hair	-	OMIM:207900
435	ASL	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:23
435	ASL	HP:0011966	Elevated plasma citrulline	HP:0040282	ORPHA:23
435	ASL	HP:0002353	EEG abnormality	HP:0040282	ORPHA:23
435	ASL	HP:0002329	Drowsiness	HP:0040282	ORPHA:23
435	ASL	HP:0003623	Neonatal onset	-	OMIM:207900
435	ASL	HP:0034734	Elevated CSF argininosuccinic acid concentration	3/3	OMIM:207900
435	ASL	HP:0007183	Focal T2 hyperintense basal ganglia lesion	HP:0040283	ORPHA:23
435	ASL	HP:0001951	Episodic ammonia intoxication	-	OMIM:207900
435	ASL	HP:0001950	Respiratory alkalosis	HP:0040282	ORPHA:23
435	ASL	HP:0001950	Respiratory alkalosis	-	OMIM:207900
435	ASL	HP:0011359	Dry hair	-	OMIM:207900
435	ASL	HP:0011362	Abnormal hair quantity	HP:0040283	ORPHA:23
435	ASL	HP:0001987	Hyperammonemia	HP:0040281	ORPHA:23
435	ASL	HP:0001987	Hyperammonemia	-	OMIM:207900
435	ASL	HP:0000670	Carious teeth	HP:0040283	ORPHA:23
435	ASL	HP:0031956	Elevated circulating aspartate aminotransferase concentration	-	OMIM:207900
435	ASL	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:23
435	ASL	HP:0000737	Irritability	-	OMIM:207900
435	ASL	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:23
435	ASL	HP:0000742	Self-mutilation	HP:0040283	ORPHA:23
435	ASL	HP:0000709	Psychosis	HP:0040283	ORPHA:23
435	ASL	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:23
435	ASL	HP:0000822	Hypertension	HP:0040282	ORPHA:23
435	ASL	HP:0003217	Hyperglutaminemia	HP:0040281	ORPHA:23
435	ASL	HP:0003217	Hyperglutaminemia	-	OMIM:207900
435	ASL	HP:0003218	Oroticaciduria	HP:0040283	ORPHA:23
435	ASL	HP:0003218	Oroticaciduria	-	OMIM:207900
435	ASL	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:23
435	ASL	HP:0011675	Arrhythmia	HP:0040283	ORPHA:23
435	ASL	HP:0001508	Failure to thrive	-	OMIM:207900
435	ASL	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:23
435	ASL	HP:0002900	Hypokalemia	HP:0040283	ORPHA:23
435	ASL	HP:0025630	Argininosuccinic aciduria	HP:0040282	ORPHA:23
435	ASL	HP:0001894	Thrombocytosis	HP:0040283	ORPHA:23
439	GET3	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
439	GET3	HP:0003811	Neonatal death	2/2	OMIM:620203
439	GET3	HP:0000007	Autosomal recessive inheritance	-	OMIM:620203
439	GET3	HP:0002789	Tachypnea	2/2	OMIM:620203
439	GET3	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
439	GET3	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
439	GET3	HP:0011968	Feeding difficulties	1/1	OMIM:620203
439	GET3	HP:0003623	Neonatal onset	2/2	OMIM:620203
439	GET3	HP:0012664	Reduced left ventricular ejection fraction	2/2	OMIM:620203
439	GET3	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
439	GET3	HP:0003198	Myopathy	HP:0040283	ORPHA:154
439	GET3	HP:0011623	Muscular ventricular septal defect	2/2	OMIM:620203
439	GET3	HP:0000969	Edema	HP:0040282	ORPHA:154
439	GET3	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
439	GET3	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
439	GET3	HP:0012378	Fatigue	HP:0040282	ORPHA:154
439	GET3	HP:0006543	Cardiorespiratory arrest	1/2	OMIM:620203
439	GET3	HP:0001684	Secundum atrial septal defect	1/2	OMIM:620203
439	GET3	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
439	GET3	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
439	GET3	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
439	GET3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
440	ASNS	HP:0001176	Large hands	-	OMIM:615574
440	ASNS	HP:0500157	Hypoasparaginemia	1/1	OMIM:615574
440	ASNS	HP:0020221	Clonic seizure	1/1	OMIM:615574
440	ASNS	HP:0020206	Simple ear	1/2	OMIM:615574
440	ASNS	HP:0010851	EEG with burst suppression	2/8	OMIM:615574
440	ASNS	HP:0009879	Simplified gyral pattern	9/12	OMIM:615574
440	ASNS	HP:0001298	Encephalopathy	-	OMIM:615574
440	ASNS	HP:0001276	Hypertonia	3/3	OMIM:615574
440	ASNS	HP:0001250	Seizure	1/1	OMIM:615574
440	ASNS	HP:0001252	Hypotonia	1/2	OMIM:615574
440	ASNS	HP:0001263	Global developmental delay	1/1	OMIM:615574
440	ASNS	HP:0002539	Cortical dysplasia	-	OMIM:615574
440	ASNS	HP:0002521	Hypsarrhythmia	3/8	OMIM:615574
440	ASNS	HP:0002510	Spastic tetraplegia	1/1	OMIM:615574
440	ASNS	HP:0002509	Limb hypertonia	9/9	OMIM:615574
440	ASNS	HP:0001347	Hyperreflexia	11/12	OMIM:615574
440	ASNS	HP:0033725	Thin corpus callosum	2/3	OMIM:615574
440	ASNS	HP:0000007	Autosomal recessive inheritance	-	OMIM:615574
440	ASNS	HP:0001337	Tremor	1/1	OMIM:615574
440	ASNS	HP:0001320	Cerebellar vermis hypoplasia	1/1	OMIM:615574
440	ASNS	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:615574
440	ASNS	HP:0008936	Axial hypotonia	6/11	OMIM:615574
440	ASNS	HP:0012110	Hypoplasia of the pons	8/12	OMIM:615574
440	ASNS	HP:0002020	Gastroesophageal reflux	1/1	OMIM:615574
440	ASNS	HP:0002093	Respiratory insufficiency	-	OMIM:615574
440	ASNS	HP:0002079	Hypoplasia of the corpus callosum	1/2	OMIM:615574
440	ASNS	HP:0002119	Ventriculomegaly	2/2	OMIM:615574
440	ASNS	HP:0002198	Dilated fourth ventricle	1/1	OMIM:615574
440	ASNS	HP:0002169	Clonus	1/2	OMIM:615574
440	ASNS	HP:0010535	Sleep apnea	1/1	OMIM:615574
440	ASNS	HP:0002267	Exaggerated startle response	14/21	OMIM:615574
440	ASNS	HP:0003593	Infantile onset	2/6	OMIM:615574
440	ASNS	HP:0003577	Congenital onset	1/1	OMIM:615574
440	ASNS	HP:0100704	Cerebral visual impairment	1/1	OMIM:615574
440	ASNS	HP:0002283	Global brain atrophy	1/1	OMIM:615574
440	ASNS	HP:0011968	Feeding difficulties	2/2	OMIM:615574
440	ASNS	HP:0007082	Dilated third ventricle	1/1	OMIM:615574
440	ASNS	HP:0020045	Esodeviation	1/1	OMIM:615574
440	ASNS	HP:0002365	Hypoplasia of the brainstem	1/1	OMIM:615574
440	ASNS	HP:0003676	Progressive	-	OMIM:615574
440	ASNS	HP:0002340	Caudate atrophy	1/2	OMIM:615574
440	ASNS	HP:0003623	Neonatal onset	4/6	OMIM:615574
440	ASNS	HP:0000618	Blindness	1/1	OMIM:615574
440	ASNS	HP:0000609	Optic nerve hypoplasia	1/1	OMIM:615574
440	ASNS	HP:0011344	Severe global developmental delay	9/9	OMIM:615574
440	ASNS	HP:0034197	Third trimester onset	3/3	OMIM:615574
440	ASNS	HP:0012736	Profound global developmental delay	-	OMIM:615574
440	ASNS	HP:0000737	Irritability	1/1	OMIM:615574
440	ASNS	HP:0011451	Primary microcephaly	3/3	OMIM:615574
440	ASNS	HP:0009110	Diaphragmatic eventration	2/2	OMIM:615574
440	ASNS	HP:0034295	Reduced cerebral white matter volume	1/1	OMIM:615574
440	ASNS	HP:0000253	Progressive microcephaly	-	OMIM:615574
440	ASNS	HP:0000252	Microcephaly	8/8	OMIM:615574
440	ASNS	HP:0001558	Decreased fetal movement	2/3	OMIM:615574
440	ASNS	HP:0001508	Failure to thrive	1/1	OMIM:615574
440	ASNS	HP:0001511	Intrauterine growth retardation	2/2	OMIM:615574
440	ASNS	HP:0025664	Moderate to late preterm birth	1/1	OMIM:615574
440	ASNS	HP:0000340	Sloping forehead	2/3	OMIM:615574
440	ASNS	HP:0000347	Micrognathia	-	OMIM:615574
440	ASNS	HP:0000316	Hypertelorism	1/2	OMIM:615574
440	ASNS	HP:0000400	Macrotia	-	OMIM:615574
440	ASNS	HP:0005274	Prominent nasal tip	2/2	OMIM:615574
440	ASNS	HP:0012448	Delayed myelination	-	OMIM:615574
440	ASNS	HP:0001833	Long foot	-	OMIM:615574
443	ASPA	HP:0002493	Upper motor neuron dysfunction	HP:0040283	ORPHA:314918
443	ASPA	HP:0002465	Poor speech	HP:0040282	ORPHA:314918
443	ASPA	HP:0007305	CNS demyelination	-	OMIM:271900
443	ASPA	HP:0032273	Increased circulating N-acetylaspartic acid concentration	-	OMIM:271900
443	ASPA	HP:0032274	Increased CSF N-acetylaspartic acid concentration	-	OMIM:271900
443	ASPA	HP:0007256	Abnormal pyramidal sign	12/12	OMIM:271900
443	ASPA	HP:0002421	Poor head control	HP:0040283	ORPHA:314918
443	ASPA	HP:0002421	Poor head control	HP:0040281	ORPHA:314911
443	ASPA	HP:0001270	Motor delay	HP:0040282	ORPHA:314918
443	ASPA	HP:0001270	Motor delay	HP:0040281	ORPHA:314911
443	ASPA	HP:0001254	Lethargy	HP:0040282	ORPHA:314911
443	ASPA	HP:0001250	Seizure	HP:0040283	ORPHA:314918
443	ASPA	HP:0001250	Seizure	HP:0040282	ORPHA:314911
443	ASPA	HP:0001252	Hypotonia	HP:0040283	ORPHA:314918
443	ASPA	HP:0001252	Hypotonia	HP:0040281	ORPHA:314911
443	ASPA	HP:0001252	Hypotonia	-	OMIM:271900
443	ASPA	HP:0001263	Global developmental delay	HP:0040281	ORPHA:314911
443	ASPA	HP:0001263	Global developmental delay	12/12	OMIM:271900
443	ASPA	HP:0001257	Spasticity	HP:0040283	ORPHA:314911
443	ASPA	HP:0002540	Inability to walk	HP:0040281	ORPHA:314911
443	ASPA	HP:0002521	Hypsarrhythmia	1/5	OMIM:271900
443	ASPA	HP:0001387	Joint stiffness	HP:0040282	ORPHA:314911
443	ASPA	HP:0001355	Megalencephaly	HP:0040283	ORPHA:314911
443	ASPA	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:314918
443	ASPA	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:314911
443	ASPA	HP:0001328	Specific learning disability	HP:0040282	ORPHA:314918
443	ASPA	HP:0001344	Absent speech	HP:0040281	ORPHA:314911
443	ASPA	HP:0000007	Autosomal recessive inheritance	-	OMIM:271900
443	ASPA	HP:0001476	Delayed closure of the anterior fontanelle	-	OMIM:271900
443	ASPA	HP:0025405	Visual fixation instability	HP:0040281	ORPHA:314911
443	ASPA	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:314911
443	ASPA	HP:0002033	Poor suck	HP:0040282	ORPHA:314911
443	ASPA	HP:0002013	Vomiting	HP:0040282	ORPHA:314911
443	ASPA	HP:0002069	Bilateral tonic-clonic seizure	5/12	OMIM:271900
443	ASPA	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:314911
443	ASPA	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:314911
443	ASPA	HP:0003487	Babinski sign	HP:0040283	ORPHA:314918
443	ASPA	HP:0003487	Babinski sign	HP:0040282	ORPHA:314911
443	ASPA	HP:0002179	Opisthotonus	-	OMIM:271900
443	ASPA	HP:0003593	Infantile onset	12/12	OMIM:271900
443	ASPA	HP:0002200	Pseudobulbar signs	HP:0040284	ORPHA:314911
443	ASPA	HP:6000354	Reduced aspartoacylase activity in cultured fibroblasts	22/22	OMIM:271900
443	ASPA	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:314911
443	ASPA	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:314911
443	ASPA	HP:0034649	Elevated urine N-acetylaspartic acid level	6/8	OMIM:271900
443	ASPA	HP:0034649	Elevated urine N-acetylaspartic acid level	HP:0040281	ORPHA:314911
443	ASPA	HP:0025013	Decerebrate rigidity	HP:0040284	ORPHA:314911
443	ASPA	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:314911
443	ASPA	HP:0002376	Developmental regression	-	OMIM:271900
443	ASPA	HP:0010841	Multifocal epileptiform discharges	2/5	OMIM:271900
443	ASPA	HP:0025053	Elevated brain N-acetyl aspartate level by MRS	10/10	OMIM:271900
443	ASPA	HP:0025053	Elevated brain N-acetyl aspartate level by MRS	HP:0040281	ORPHA:314911
443	ASPA	HP:0000639	Nystagmus	6/12	OMIM:271900
443	ASPA	HP:0000648	Optic atrophy	HP:0040282	ORPHA:314911
443	ASPA	HP:0000648	Optic atrophy	4/12	OMIM:271900
443	ASPA	HP:0000618	Blindness	HP:0040283	ORPHA:314911
443	ASPA	HP:0000618	Blindness	-	OMIM:271900
443	ASPA	HP:0011342	Mild global developmental delay	HP:0040282	ORPHA:314918
443	ASPA	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:314911
443	ASPA	HP:0012751	Abnormal basal ganglia MRI signal intensity	HP:0040283	ORPHA:314918
443	ASPA	HP:0000737	Irritability	HP:0040282	ORPHA:314911
443	ASPA	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:314918
443	ASPA	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040284	ORPHA:314911
443	ASPA	HP:0012762	Cerebral white matter atrophy	HP:0040282	ORPHA:314911
443	ASPA	HP:0040196	Mild microcephaly	HP:0040283	ORPHA:314918
443	ASPA	HP:0000256	Macrocephaly	HP:0040283	ORPHA:314918
443	ASPA	HP:0000256	Macrocephaly	HP:0040281	ORPHA:314911
443	ASPA	HP:0000256	Macrocephaly	7/12	OMIM:271900
443	ASPA	HP:0000252	Microcephaly	2/12	OMIM:271900
443	ASPA	HP:0011097	Epileptic spasm	1/12	OMIM:271900
443	ASPA	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040282	ORPHA:314918
443	ASPA	HP:0001612	Weak cry	HP:0040282	ORPHA:314911
443	ASPA	HP:0000365	Hearing impairment	-	OMIM:271900
443	ASPA	HP:0012444	Brain atrophy	-	OMIM:271900
443	ASPA	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:314918
443	ASPA	HP:0000505	Visual impairment	12/12	OMIM:271900
444	ASPH	HP:0009901	Crumpled ear	90/119	OMIM:121050
444	ASPH	HP:0001181	Adducted thumb	42/90	OMIM:121050
444	ASPH	HP:0001166	Arachnodactyly	104/124	OMIM:121050
444	ASPH	HP:0001166	Arachnodactyly	124/197	OMIM:154700
444	ASPH	HP:0001166	Arachnodactyly	4/5	OMIM:601552
444	ASPH	HP:0001166	Arachnodactyly	34/37	OMIM:182212
444	ASPH	HP:0001166	Arachnodactyly	6/15	OMIM:208050
444	ASPH	HP:0001132	Lens subluxation	2/2	OMIM:601552
444	ASPH	HP:0003745	Sporadic	-	OMIM:182212
444	ASPH	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
444	ASPH	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
444	ASPH	HP:0001290	Generalized hypotonia	-	OMIM:208050
444	ASPH	HP:0001290	Generalized hypotonia	-	OMIM:182212
444	ASPH	HP:0001270	Motor delay	-	OMIM:121050
444	ASPH	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
444	ASPH	HP:0001252	Hypotonia	26/37	OMIM:182212
444	ASPH	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
444	ASPH	HP:0001249	Intellectual disability	-	OMIM:182212
444	ASPH	HP:0001263	Global developmental delay	-	OMIM:182212
444	ASPH	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
444	ASPH	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
444	ASPH	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
444	ASPH	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
444	ASPH	HP:0000098	Tall stature	-	OMIM:154700
444	ASPH	HP:0001377	Limited elbow extension	94/109	OMIM:121050
444	ASPH	HP:0001377	Limited elbow extension	29/199	OMIM:154700
444	ASPH	HP:0001371	Flexion contracture	-	OMIM:208050
444	ASPH	HP:0001371	Flexion contracture	-	OMIM:154700
444	ASPH	HP:0001382	Joint hypermobility	1/1	OMIM:130050
444	ASPH	HP:0001382	Joint hypermobility	1/2	OMIM:601552
444	ASPH	HP:0001382	Joint hypermobility	12/14	OMIM:208050
444	ASPH	HP:0001382	Joint hypermobility	11/53	OMIM:154700
444	ASPH	HP:0001382	Joint hypermobility	31/47	OMIM:182212
444	ASPH	HP:0000023	Inguinal hernia	11/11	OMIM:130050
444	ASPH	HP:0000023	Inguinal hernia	8/15	OMIM:208050
444	ASPH	HP:0000023	Inguinal hernia	19/34	OMIM:182212
444	ASPH	HP:0001363	Craniosynostosis	18/37	OMIM:182212
444	ASPH	HP:0000028	Cryptorchidism	1/1	OMIM:130050
444	ASPH	HP:0000028	Cryptorchidism	1/13	OMIM:182212
444	ASPH	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
444	ASPH	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
444	ASPH	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
444	ASPH	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
444	ASPH	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
444	ASPH	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
444	ASPH	HP:0000007	Autosomal recessive inheritance	-	OMIM:601552
444	ASPH	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
444	ASPH	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
444	ASPH	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
444	ASPH	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
444	ASPH	HP:0002650	Scoliosis	16/53	OMIM:154700
444	ASPH	HP:0002650	Scoliosis	11/15	OMIM:121050
444	ASPH	HP:0002650	Scoliosis	3/15	OMIM:208050
444	ASPH	HP:0002650	Scoliosis	23/37	OMIM:182212
444	ASPH	HP:0002647	Aortic dissection	1/58	OMIM:154700
444	ASPH	HP:0002619	Varicose veins	-	OMIM:130050
444	ASPH	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
444	ASPH	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
444	ASPH	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
444	ASPH	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
444	ASPH	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
444	ASPH	HP:0000189	Narrow palate	-	OMIM:182212
444	ASPH	HP:0000189	Narrow palate	-	OMIM:154700
444	ASPH	HP:0000193	Bifid uvula	1/7	OMIM:601552
444	ASPH	HP:0000193	Bifid uvula	0/14	OMIM:208050
444	ASPH	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
444	ASPH	HP:0012151	Hemothorax	3/4	OMIM:130050
444	ASPH	HP:0000139	Uterine prolapse	-	OMIM:130050
444	ASPH	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
444	ASPH	HP:0007663	Reduced visual acuity	1/2	OMIM:601552
444	ASPH	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
444	ASPH	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
444	ASPH	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
444	ASPH	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
444	ASPH	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
444	ASPH	HP:0002036	Hiatus hernia	-	OMIM:208050
444	ASPH	HP:0002007	Frontal bossing	-	OMIM:121050
444	ASPH	HP:0002007	Frontal bossing	-	OMIM:182212
444	ASPH	HP:0003302	Spondylolisthesis	-	OMIM:154700
444	ASPH	HP:0002097	Emphysema	8/9	OMIM:130050
444	ASPH	HP:0002097	Emphysema	HP:0040283	OMIM:154700
444	ASPH	HP:0030961	Microspherophakia	2/53	OMIM:154700
444	ASPH	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
444	ASPH	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
444	ASPH	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
444	ASPH	HP:0010499	Patellar subluxation	12/22	OMIM:121050
444	ASPH	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
444	ASPH	HP:0002140	Ischemic stroke	-	OMIM:208050
444	ASPH	HP:0002156	Homocystinuria	0/2	OMIM:601552
444	ASPH	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
444	ASPH	HP:0002107	Pneumothorax	2/2	OMIM:130050
444	ASPH	HP:0002107	Pneumothorax	6/53	OMIM:154700
444	ASPH	HP:0002105	Hemoptysis	6/10	OMIM:130050
444	ASPH	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
444	ASPH	HP:0003593	Infantile onset	5/16	OMIM:208050
444	ASPH	HP:0003577	Congenital onset	5/5	OMIM:121050
444	ASPH	HP:0003577	Congenital onset	12/26	OMIM:208050
444	ASPH	HP:0100718	Uterine rupture	-	OMIM:130050
444	ASPH	HP:0004872	Incisional hernia	-	OMIM:154700
444	ASPH	HP:0100775	Dural ectasia	112/140	OMIM:154700
444	ASPH	HP:0100749	Chest pain	1/2	OMIM:130050
444	ASPH	HP:0002293	Alopecia of scalp	-	OMIM:130050
444	ASPH	HP:0034671	Knee contracture	7/14	OMIM:121050
444	ASPH	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
444	ASPH	HP:0010648	Dermal translucency	3/3	OMIM:130050
444	ASPH	HP:0007099	Chiari type I malformation	-	OMIM:182212
444	ASPH	HP:0025019	Arterial rupture	-	OMIM:130050
444	ASPH	HP:0001065	Striae distensae	11/53	OMIM:154700
444	ASPH	HP:0001030	Fragile skin	-	OMIM:130050
444	ASPH	HP:0001027	Soft, doughy skin	-	OMIM:208050
444	ASPH	HP:0100645	Cystocele	-	OMIM:130050
444	ASPH	HP:0001073	Cigarette-paper scars	-	OMIM:130050
444	ASPH	HP:0001089	Iris atrophy	9/12	OMIM:601552
444	ASPH	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
444	ASPH	HP:0001083	Ectopia lentis	119/251	OMIM:154700
444	ASPH	HP:0001083	Ectopia lentis	15/15	OMIM:601552
444	ASPH	HP:0020125	Spontaneous conjunctival filtering bleb	7/13	OMIM:601552
444	ASPH	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
444	ASPH	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
444	ASPH	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
444	ASPH	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
444	ASPH	HP:0003623	Neonatal onset	3/16	OMIM:208050
444	ASPH	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
444	ASPH	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
444	ASPH	HP:0003621	Juvenile onset	2/16	OMIM:208050
444	ASPH	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
444	ASPH	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
444	ASPH	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
444	ASPH	HP:0012629	Phakodonesis	2/4	OMIM:601552
444	ASPH	HP:0001977	Abnormal thrombosis	-	OMIM:208050
444	ASPH	HP:0001903	Anemia	1/1	OMIM:130050
444	ASPH	HP:0010055	Broad hallux	2/4	OMIM:601552
444	ASPH	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
444	ASPH	HP:0000678	Dental crowding	8/53	OMIM:154700
444	ASPH	HP:0000689	Dental malocclusion	12/12	OMIM:601552
444	ASPH	HP:0000689	Dental malocclusion	-	OMIM:182212
444	ASPH	HP:0004322	Short stature	-	OMIM:130050
444	ASPH	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
444	ASPH	HP:0003088	Premature osteoarthritis	-	OMIM:154700
444	ASPH	HP:0003083	Dislocated radial head	5/37	OMIM:182212
444	ASPH	HP:0003066	Limited knee extension	38/45	OMIM:121050
444	ASPH	HP:0003042	Elbow dislocation	1/12	OMIM:121050
444	ASPH	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
444	ASPH	HP:0005684	Distal arthrogryposis	-	OMIM:121050
444	ASPH	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
444	ASPH	HP:0000767	Pectus excavatum	2/14	OMIM:121050
444	ASPH	HP:0000767	Pectus excavatum	1/4	OMIM:130050
444	ASPH	HP:0000767	Pectus excavatum	1/11	OMIM:601552
444	ASPH	HP:0000767	Pectus excavatum	3/15	OMIM:208050
444	ASPH	HP:0000767	Pectus excavatum	44/146	OMIM:154700
444	ASPH	HP:0000767	Pectus excavatum	-	OMIM:182212
444	ASPH	HP:0000768	Pectus carinatum	4/14	OMIM:121050
444	ASPH	HP:0000768	Pectus carinatum	2/15	OMIM:208050
444	ASPH	HP:0000768	Pectus carinatum	58/146	OMIM:154700
444	ASPH	HP:0000768	Pectus carinatum	-	OMIM:182212
444	ASPH	HP:0000704	Periodontitis	-	OMIM:130050
444	ASPH	HP:0011483	Anterior synechiae of the anterior chamber	11/12	OMIM:601552
444	ASPH	HP:0011463	Childhood onset	3/4	OMIM:601552
444	ASPH	HP:0011463	Childhood onset	1/16	OMIM:208050
444	ASPH	HP:0011462	Young adult onset	3/16	OMIM:208050
444	ASPH	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
444	ASPH	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
444	ASPH	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
444	ASPH	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
444	ASPH	HP:0030799	Scaphocephaly	-	OMIM:121050
444	ASPH	HP:0003199	Decreased muscle mass	-	OMIM:154700
444	ASPH	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
444	ASPH	HP:0000883	Thin ribs	-	OMIM:182212
444	ASPH	HP:0000822	Hypertension	-	OMIM:208050
444	ASPH	HP:0000895	Lateral clavicle hook	-	OMIM:182212
444	ASPH	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
444	ASPH	HP:0034391	Elbow contracture	10/14	OMIM:121050
444	ASPH	HP:0003273	Hip contracture	32/121	OMIM:121050
444	ASPH	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
444	ASPH	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
444	ASPH	HP:0000978	Bruising susceptibility	-	OMIM:208050
444	ASPH	HP:0000977	Soft skin	7/15	OMIM:208050
444	ASPH	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
444	ASPH	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
444	ASPH	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
444	ASPH	HP:0000973	Cutis laxa	5/14	OMIM:208050
444	ASPH	HP:0000963	Thin skin	4/13	OMIM:208050
444	ASPH	HP:0000938	Osteopenia	-	OMIM:121050
444	ASPH	HP:0000938	Osteopenia	-	OMIM:182212
444	ASPH	HP:0034375	Spherophakia	4/4	OMIM:601552
444	ASPH	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
444	ASPH	HP:0009381	Short finger	1/2	OMIM:601552
444	ASPH	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
444	ASPH	HP:0025586	Hypertropia	8/573	OMIM:154700
444	ASPH	HP:0000278	Retrognathia	-	OMIM:154700
444	ASPH	HP:0000278	Retrognathia	12/12	OMIM:601552
444	ASPH	HP:0000260	Wide anterior fontanel	-	OMIM:182212
444	ASPH	HP:0000275	Narrow face	-	OMIM:154700
444	ASPH	HP:0000276	Long face	14/14	OMIM:208050
444	ASPH	HP:0000276	Long face	-	OMIM:154700
444	ASPH	HP:0000276	Long face	6/7	OMIM:601552
444	ASPH	HP:0000272	Malar flattening	9/14	OMIM:208050
444	ASPH	HP:0000272	Malar flattening	31/53	OMIM:154700
444	ASPH	HP:0000272	Malar flattening	7/7	OMIM:601552
444	ASPH	HP:0000268	Dolichocephaly	-	OMIM:121050
444	ASPH	HP:0000268	Dolichocephaly	36/53	OMIM:154700
444	ASPH	HP:0000268	Dolichocephaly	28/37	OMIM:182212
444	ASPH	HP:0005136	Mitral annular calcification	-	OMIM:154700
444	ASPH	HP:0002816	Genu recurvatum	-	OMIM:182212
444	ASPH	HP:0002816	Genu recurvatum	-	OMIM:154700
444	ASPH	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
444	ASPH	HP:0000244	Brachyturricephaly	-	OMIM:182212
444	ASPH	HP:0000238	Hydrocephalus	13/37	OMIM:182212
444	ASPH	HP:0000252	Microcephaly	6/37	OMIM:182212
444	ASPH	HP:0000248	Brachycephaly	-	OMIM:121050
444	ASPH	HP:0000218	High palate	34/53	OMIM:154700
444	ASPH	HP:0000218	High palate	30/102	OMIM:121050
444	ASPH	HP:0000218	High palate	1/8	OMIM:601552
444	ASPH	HP:0000218	High palate	5/13	OMIM:208050
444	ASPH	HP:0000218	High palate	30/37	OMIM:182212
444	ASPH	HP:0000233	Thin vermilion border	-	OMIM:130050
444	ASPH	HP:0030009	Cervical insufficiency	-	OMIM:130050
444	ASPH	HP:0002857	Genu valgum	4/37	OMIM:182212
444	ASPH	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
444	ASPH	HP:0001537	Umbilical hernia	-	OMIM:208050
444	ASPH	HP:0001537	Umbilical hernia	13/37	OMIM:182212
444	ASPH	HP:0031364	Ecchymosis	-	OMIM:130050
444	ASPH	HP:0001519	Disproportionate tall stature	-	OMIM:121050
444	ASPH	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
444	ASPH	HP:0007800	Increased axial length of the globe	-	OMIM:154700
444	ASPH	HP:0012385	Camptodactyly	86/110	OMIM:121050
444	ASPH	HP:0012385	Camptodactyly	19/53	OMIM:154700
444	ASPH	HP:0012385	Camptodactyly	24/37	OMIM:182212
444	ASPH	HP:0000387	Absent earlobe	-	OMIM:130050
444	ASPH	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
444	ASPH	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
444	ASPH	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
444	ASPH	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
444	ASPH	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
444	ASPH	HP:0006480	Premature loss of teeth	-	OMIM:130050
444	ASPH	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
444	ASPH	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
444	ASPH	HP:0011003	High myopia	2/4	OMIM:601552
444	ASPH	HP:0000369	Low-set ears	32/37	OMIM:182212
444	ASPH	HP:0000343	Long philtrum	-	OMIM:208050
444	ASPH	HP:0002999	Patellar dislocation	2/20	OMIM:121050
444	ASPH	HP:0000347	Micrognathia	-	OMIM:154700
444	ASPH	HP:0000347	Micrognathia	26/94	OMIM:121050
444	ASPH	HP:0000347	Micrognathia	5/14	OMIM:208050
444	ASPH	HP:0000347	Micrognathia	33/37	OMIM:182212
444	ASPH	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
444	ASPH	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
444	ASPH	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
444	ASPH	HP:0000316	Hypertelorism	6/16	OMIM:208050
444	ASPH	HP:0000316	Hypertelorism	28/37	OMIM:182212
444	ASPH	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
444	ASPH	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
444	ASPH	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
444	ASPH	HP:0001659	Aortic regurgitation	-	OMIM:208050
444	ASPH	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
444	ASPH	HP:0001653	Mitral regurgitation	-	OMIM:121050
444	ASPH	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
444	ASPH	HP:0000324	Facial asymmetry	2/4	OMIM:601552
444	ASPH	HP:0001629	Ventricular septal defect	-	OMIM:121050
444	ASPH	HP:0001635	Congestive heart failure	-	OMIM:154700
444	ASPH	HP:0002967	Cubitus valgus	1/11	OMIM:601552
444	ASPH	HP:0001631	Atrial septal defect	-	OMIM:121050
444	ASPH	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
444	ASPH	HP:0001634	Mitral valve prolapse	-	OMIM:130050
444	ASPH	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
444	ASPH	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
444	ASPH	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
444	ASPH	HP:0031624	Moderate myopia	1/2	OMIM:601552
444	ASPH	HP:0007906	Ocular hypertension	6/12	OMIM:601552
444	ASPH	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
444	ASPH	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
444	ASPH	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
444	ASPH	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
444	ASPH	HP:0000400	Macrotia	7/15	OMIM:208050
444	ASPH	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
444	ASPH	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
444	ASPH	HP:0000483	Astigmatism	3/53	OMIM:154700
444	ASPH	HP:0000483	Astigmatism	5/15	OMIM:208050
444	ASPH	HP:0000486	Strabismus	110/573	OMIM:154700
444	ASPH	HP:0000486	Strabismus	17/37	OMIM:182212
444	ASPH	HP:0000494	Downslanted palpebral fissures	13/13	OMIM:601552
444	ASPH	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
444	ASPH	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
444	ASPH	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
444	ASPH	HP:0000490	Deeply set eye	25/63	OMIM:154700
444	ASPH	HP:0000463	Anteverted nares	9/37	OMIM:182212
444	ASPH	HP:0001786	Narrow foot	33/53	OMIM:154700
444	ASPH	HP:0000470	Short neck	-	OMIM:121050
444	ASPH	HP:0001763	Pes planus	27/53	OMIM:154700
444	ASPH	HP:0001763	Pes planus	1/2	OMIM:601552
444	ASPH	HP:0001763	Pes planus	-	OMIM:182212
444	ASPH	HP:0001765	Hammertoe	-	OMIM:154700
444	ASPH	HP:0000448	Prominent nose	23/23	OMIM:601552
444	ASPH	HP:0000444	Convex nasal ridge	23/23	OMIM:601552
444	ASPH	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
444	ASPH	HP:0000445	Wide nose	HP:0040283	OMIM:601552
444	ASPH	HP:0000418	Narrow nasal ridge	-	OMIM:130050
444	ASPH	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
444	ASPH	HP:0001762	Talipes equinovarus	-	OMIM:130050
444	ASPH	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
444	ASPH	HP:0001761	Pes cavus	49/146	OMIM:154700
444	ASPH	HP:0000426	Prominent nasal bridge	13/13	OMIM:601552
444	ASPH	HP:0000518	Cataract	10/12	OMIM:601552
444	ASPH	HP:0000518	Cataract	118/199	OMIM:154700
444	ASPH	HP:0001840	Metatarsus adductus	-	OMIM:121050
444	ASPH	HP:0001840	Metatarsus adductus	-	OMIM:182212
444	ASPH	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
444	ASPH	HP:0001842	Foot acroosteolysis	-	OMIM:130050
444	ASPH	HP:0000520	Proptosis	29/37	OMIM:182212
444	ASPH	HP:0000506	Telecanthus	-	OMIM:182212
444	ASPH	HP:0000508	Ptosis	16/37	OMIM:182212
444	ASPH	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
444	ASPH	HP:0000505	Visual impairment	1/1	OMIM:601552
444	ASPH	HP:0000501	Glaucoma	29/625	OMIM:154700
444	ASPH	HP:0000581	Blepharophimosis	-	OMIM:208050
444	ASPH	HP:0000577	Exotropia	72/626	OMIM:154700
444	ASPH	HP:0000594	Shallow anterior chamber	7/8	OMIM:601552
444	ASPH	HP:0000586	Shallow orbits	13/37	OMIM:182212
444	ASPH	HP:0000563	Keratoconus	-	OMIM:130050
444	ASPH	HP:0000563	Keratoconus	3/14	OMIM:208050
444	ASPH	HP:0011220	Prominent forehead	17/37	OMIM:182212
444	ASPH	HP:0000568	Microphthalmia	HP:0040283	OMIM:601552
444	ASPH	HP:0000565	Esotropia	12/573	OMIM:154700
444	ASPH	HP:0000541	Retinal detachment	-	OMIM:154700
444	ASPH	HP:0001883	Talipes	13/53	OMIM:154700
444	ASPH	HP:0000545	Myopia	-	OMIM:121050
444	ASPH	HP:0000545	Myopia	6/15	OMIM:208050
444	ASPH	HP:0000545	Myopia	93/251	OMIM:154700
444	ASPH	HP:0000545	Myopia	9/37	OMIM:182212
445	ASS1	HP:0001297	Stroke	HP:0040283	OMIM:215700
445	ASS1	HP:0001254	Lethargy	-	OMIM:215700
445	ASS1	HP:0001250	Seizure	-	OMIM:215700
445	ASS1	HP:0001251	Ataxia	-	OMIM:215700
445	ASS1	HP:0001249	Intellectual disability	-	OMIM:215700
445	ASS1	HP:0001263	Global developmental delay	-	OMIM:215700
445	ASS1	HP:0001259	Coma	-	OMIM:215700
445	ASS1	HP:0001394	Cirrhosis	-	OMIM:215700
445	ASS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:215700
445	ASS1	HP:0002013	Vomiting	-	OMIM:215700
445	ASS1	HP:0005961	Hypoargininemia	-	OMIM:215700
445	ASS1	HP:0002038	Protein avoidance	-	OMIM:215700
445	ASS1	HP:0002181	Cerebral edema	-	OMIM:215700
445	ASS1	HP:0003593	Infantile onset	3/17	OMIM:215700
445	ASS1	HP:0002240	Hepatomegaly	-	OMIM:215700
445	ASS1	HP:6000353	Reduced tissue argininosuccinate synthetase activity	29/29	OMIM:215700
445	ASS1	HP:0011966	Elevated plasma citrulline	15/15	OMIM:215700
445	ASS1	HP:0003623	Neonatal onset	13/17	OMIM:215700
445	ASS1	HP:0003621	Juvenile onset	1/17	OMIM:215700
445	ASS1	HP:0001951	Episodic ammonia intoxication	-	OMIM:215700
445	ASS1	HP:0001950	Respiratory alkalosis	-	OMIM:215700
445	ASS1	HP:0001987	Hyperammonemia	-	OMIM:215700
445	ASS1	HP:0000737	Irritability	-	OMIM:215700
445	ASS1	HP:0003217	Hyperglutaminemia	14/14	OMIM:215700
445	ASS1	HP:0003218	Oroticaciduria	14/14	OMIM:215700
445	ASS1	HP:0001508	Failure to thrive	-	OMIM:215700
462	SERPINC1	HP:0025324	Arterial occlusion	-	OMIM:613118
462	SERPINC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613118
462	SERPINC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613118
462	SERPINC1	HP:0002638	Superficial thrombophlebitis	HP:0040282	ORPHA:82
462	SERPINC1	HP:0002625	Deep venous thrombosis	-	OMIM:613118
462	SERPINC1	HP:0002625	Deep venous thrombosis	HP:0040282	ORPHA:82
462	SERPINC1	HP:0002204	Pulmonary embolism	-	OMIM:613118
462	SERPINC1	HP:0002204	Pulmonary embolism	HP:0040282	ORPHA:82
462	SERPINC1	HP:0004831	Recurrent thromboembolism	HP:0040282	ORPHA:82
462	SERPINC1	HP:0200067	Recurrent spontaneous abortion	HP:0040283	ORPHA:82
462	SERPINC1	HP:0001976	Reduced antithrombin III activity	-	OMIM:613118
462	SERPINC1	HP:0001976	Reduced antithrombin III activity	HP:0040281	ORPHA:82
462	SERPINC1	HP:0012636	Retinal vein occlusion	HP:0040283	ORPHA:82
462	SERPINC1	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:82
462	SERPINC1	HP:0004419	Recurrent thrombophlebitis	1/1	OMIM:613118
462	SERPINC1	HP:0040226	Decreased level of heparin co-factor II	1/1	OMIM:613118
462	SERPINC1	HP:0040246	Reduced antithrombin antigen	HP:0040281	ORPHA:82
462	SERPINC1	HP:0005268	Miscarriage	HP:0040283	ORPHA:82
462	SERPINC1	HP:0031437	Pregnancy exposure	HP:0040282	ORPHA:82
462	SERPINC1	HP:0005305	Cerebral venous thrombosis	-	OMIM:613118
462	SERPINC1	HP:0005305	Cerebral venous thrombosis	HP:0040284	ORPHA:82
462	SERPINC1	HP:0030248	Mesenteric venous thrombosis	HP:0040283	ORPHA:82
462	SERPINC1	HP:0030243	Hepatic vein thrombosis	HP:0040283	ORPHA:82
462	SERPINC1	HP:0030242	Portal vein thrombosis	HP:0040283	ORPHA:82
463	ZFHX3	HP:0002406	Limb dysmetria	-	OMIM:600223
463	ZFHX3	HP:0001272	Cerebellar atrophy	-	OMIM:600223
463	ZFHX3	HP:0001284	Areflexia	-	OMIM:600223
463	ZFHX3	HP:0001265	Hyporeflexia	-	OMIM:600223
463	ZFHX3	HP:0001260	Dysarthria	-	OMIM:600223
463	ZFHX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:176807
463	ZFHX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:613055
463	ZFHX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:600223
463	ZFHX3	HP:0012125	Prostate cancer	-	OMIM:176807
463	ZFHX3	HP:0001442	Typified by somatic mosaicism	-	OMIM:176807
463	ZFHX3	HP:0002073	Progressive cerebellar ataxia	-	OMIM:600223
463	ZFHX3	HP:0003487	Babinski sign	-	OMIM:600223
463	ZFHX3	HP:0003581	Adult onset	-	OMIM:613055
463	ZFHX3	HP:0000763	Sensory neuropathy	-	OMIM:600223
463	ZFHX3	HP:0005110	Atrial fibrillation	-	OMIM:613055
463	ZFHX3	HP:0007772	Impaired smooth pursuit	-	OMIM:600223
463	ZFHX3	HP:0002936	Distal sensory impairment	-	OMIM:600223
471	ATIC	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:250977
471	ATIC	HP:0001250	Seizure	HP:0040281	ORPHA:250977
471	ATIC	HP:0001250	Seizure	1/1	OMIM:608688
471	ATIC	HP:0001252	Hypotonia	1/1	OMIM:608688
471	ATIC	HP:0008665	Clitoral hypertrophy	HP:0040281	ORPHA:250977
471	ATIC	HP:0008665	Clitoral hypertrophy	1/1	OMIM:608688
471	ATIC	HP:6000752	Elevated erythrocyte AICA-ribotide concentration	1/1	OMIM:608688
471	ATIC	HP:0000063	Fused labia minora	HP:0040281	ORPHA:250977
471	ATIC	HP:0000063	Fused labia minora	1/1	OMIM:608688
471	ATIC	HP:0000007	Autosomal recessive inheritance	-	OMIM:608688
471	ATIC	HP:0000154	Wide mouth	1/1	OMIM:608688
471	ATIC	HP:0000154	Wide mouth	HP:0040281	ORPHA:250977
471	ATIC	HP:0002007	Frontal bossing	-	OMIM:608688
471	ATIC	HP:0002187	Intellectual disability, profound	1/1	OMIM:608688
471	ATIC	HP:0034565	Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level	1/1	OMIM:608688
471	ATIC	HP:0003577	Congenital onset	1/1	OMIM:608688
471	ATIC	HP:0010781	Skin dimple	1/1	OMIM:608688
471	ATIC	HP:0000648	Optic atrophy	1/1	OMIM:608688
471	ATIC	HP:0001943	Hypoglycemia	1/1	OMIM:608688
471	ATIC	HP:0000248	Brachycephaly	1/1	OMIM:608688
471	ATIC	HP:0000248	Brachycephaly	HP:0040281	ORPHA:250977
471	ATIC	HP:0000219	Thin upper lip vermilion	1/1	OMIM:608688
471	ATIC	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:250977
471	ATIC	HP:0007875	Congenital blindness	HP:0040281	ORPHA:250977
471	ATIC	HP:0007875	Congenital blindness	1/1	OMIM:608688
471	ATIC	HP:0002902	Hyponatremia	1/1	OMIM:608688
471	ATIC	HP:0000369	Low-set ears	1/1	OMIM:608688
471	ATIC	HP:0000369	Low-set ears	HP:0040281	ORPHA:250977
471	ATIC	HP:0001684	Secundum atrial septal defect	1/1	OMIM:608688
471	ATIC	HP:0000463	Anteverted nares	1/1	OMIM:608688
471	ATIC	HP:0000426	Prominent nasal bridge	1/1	OMIM:608688
471	ATIC	HP:0005487	Prominent metopic ridge	1/1	OMIM:608688
471	ATIC	HP:0011220	Prominent forehead	1/1	OMIM:608688
471	ATIC	HP:0011220	Prominent forehead	HP:0040281	ORPHA:250977
471	ATIC	HP:0000565	Esotropia	1/1	OMIM:608688
472	ATM	HP:0001123	Visual field defect	HP:0040283	ORPHA:440437
472	ATM	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:440437
472	ATM	HP:0032218	Decreased proportion of CD4-positive T cells	-	OMIM:208900
472	ATM	HP:0001276	Hypertonia	HP:0040282	ORPHA:440437
472	ATM	HP:0001288	Gait disturbance	HP:0040283	ORPHA:440437
472	ATM	HP:0001288	Gait disturbance	HP:0040281	ORPHA:100
472	ATM	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:440437
472	ATM	HP:0001250	Seizure	HP:0040282	ORPHA:100
472	ATM	HP:0001250	Seizure	HP:0040282	ORPHA:440437
472	ATM	HP:0001250	Seizure	1/2	OMIM:208900
472	ATM	HP:0001252	Hypotonia	HP:0040282	ORPHA:440437
472	ATM	HP:0001251	Ataxia	HP:0040281	ORPHA:100
472	ATM	HP:0001251	Ataxia	104/104	OMIM:208900
472	ATM	HP:0001266	Choreoathetosis	81/93	OMIM:208900
472	ATM	HP:0001260	Dysarthria	HP:0040283	ORPHA:440437
472	ATM	HP:0001260	Dysarthria	104/104	OMIM:208900
472	ATM	HP:0001260	Dysarthria	HP:0040282	ORPHA:100
472	ATM	HP:0001257	Spasticity	HP:0040282	ORPHA:100
472	ATM	HP:0010975	Abnormal B cell count	0/2	OMIM:208900
472	ATM	HP:0008669	Abnormal spermatogenesis	-	OMIM:208900
472	ATM	HP:0002540	Inability to walk	1/2	OMIM:208900
472	ATM	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:440437
472	ATM	HP:0001371	Flexion contracture	HP:0040283	ORPHA:440437
472	ATM	HP:0001350	Slurred speech	1/2	OMIM:208900
472	ATM	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:100
472	ATM	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:100
472	ATM	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:100
472	ATM	HP:0002664	Neoplasm	HP:0040282	ORPHA:100
472	ATM	HP:0001332	Dystonia	-	OMIM:208900
472	ATM	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:440437
472	ATM	HP:0000007	Autosomal recessive inheritance	-	OMIM:208900
472	ATM	HP:0002665	Lymphoma	-	OMIM:208900
472	ATM	HP:0001337	Tremor	-	OMIM:208900
472	ATM	HP:0001337	Tremor	HP:0040281	ORPHA:100
472	ATM	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
472	ATM	HP:0001336	Myoclonus	-	OMIM:208900
472	ATM	HP:0001315	Reduced tendon reflexes	-	OMIM:208900
472	ATM	HP:0012191	B-cell lymphoma	HP:0040281	ORPHA:52416
472	ATM	HP:0012189	Hodgkin lymphoma	-	OMIM:208900
472	ATM	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:440437
472	ATM	HP:0012126	Stomach cancer	HP:0040284	ORPHA:440437
472	ATM	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:100
472	ATM	HP:0006254	Elevated circulating alpha-fetoprotein concentration	2/2	OMIM:208900
472	ATM	HP:0002783	Recurrent lower respiratory tract infections	2/2	OMIM:208900
472	ATM	HP:0012113	Abnormal circulating creatine concentration	HP:0040283	ORPHA:440437
472	ATM	HP:0000134	Female hypogonadism	-	OMIM:208900
472	ATM	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
472	ATM	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:440437
472	ATM	HP:0002715	Abnormality of the immune system	HP:0040281	ORPHA:100
472	ATM	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:52416
472	ATM	HP:0002720	Decreased circulating IgA concentration	1/2	OMIM:208900
472	ATM	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:100
472	ATM	HP:0002024	Malabsorption	HP:0040281	ORPHA:440437
472	ATM	HP:0002019	Constipation	HP:0040281	ORPHA:440437
472	ATM	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:440437
472	ATM	HP:0002027	Abdominal pain	HP:0040281	ORPHA:440437
472	ATM	HP:0002028	Chronic diarrhea	1/2	OMIM:208900
472	ATM	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:100
472	ATM	HP:0002080	Intention tremor	1/2	OMIM:208900
472	ATM	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:100
472	ATM	HP:0002076	Migraine	HP:0040282	ORPHA:440437
472	ATM	HP:0002075	Dysdiadochokinesis	1/2	OMIM:208900
472	ATM	HP:0002073	Progressive cerebellar ataxia	2/2	OMIM:208900
472	ATM	HP:0002039	Anorexia	HP:0040282	ORPHA:52416
472	ATM	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:440437
472	ATM	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:100
472	ATM	HP:0100579	Mucosal telangiectasiae	HP:0040281	ORPHA:100
472	ATM	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:440437
472	ATM	HP:0002110	Bronchiectasis	-	OMIM:208900
472	ATM	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:440437
472	ATM	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:100
472	ATM	HP:0010526	Dysgraphia	HP:0040283	ORPHA:440437
472	ATM	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:440437
472	ATM	HP:0010515	Aplasia/Hypoplasia of the thymus	HP:0040281	ORPHA:100
472	ATM	HP:0003401	Paresthesia	HP:0040283	ORPHA:440437
472	ATM	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:440437
472	ATM	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:100
472	ATM	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:100
472	ATM	HP:0009726	Renal neoplasm	-	ORPHA:440437
472	ATM	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:440437
472	ATM	HP:0008348	Decreased circulating IgG2 concentration	-	OMIM:208900
472	ATM	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:440437
472	ATM	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:440437
472	ATM	HP:0002376	Developmental regression	HP:0040283	ORPHA:440437
472	ATM	HP:0002354	Memory impairment	HP:0040283	ORPHA:440437
472	ATM	HP:0100660	Dyskinesia	HP:0040283	ORPHA:440437
472	ATM	HP:0100615	Ovarian neoplasm	-	ORPHA:440437
472	ATM	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:440437
472	ATM	HP:0010784	Uterine neoplasm	HP:0040284	ORPHA:440437
472	ATM	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:100
472	ATM	HP:0005561	Abnormal bone marrow cell morphology	HP:0040282	ORPHA:52416
472	ATM	HP:0000639	Nystagmus	HP:0040281	ORPHA:100
472	ATM	HP:0000639	Nystagmus	1/2	OMIM:208900
472	ATM	HP:0001945	Fever	HP:0040282	ORPHA:52416
472	ATM	HP:0001952	Glucose intolerance	-	OMIM:208900
472	ATM	HP:0001909	Leukemia	-	OMIM:208900
472	ATM	HP:0004322	Short stature	HP:0040282	ORPHA:100
472	ATM	HP:0004322	Short stature	-	OMIM:208900
472	ATM	HP:0004315	Decreased circulating IgG concentration	-	OMIM:208900
472	ATM	HP:0003002	Breast carcinoma	-	OMIM:114480
472	ATM	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:100
472	ATM	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:440437
472	ATM	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:440437
472	ATM	HP:0100013	Neoplasm of the breast	-	ORPHA:440437
472	ATM	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:100
472	ATM	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:440437
472	ATM	HP:0000738	Hallucinations	HP:0040283	ORPHA:440437
472	ATM	HP:0000737	Irritability	HP:0040282	ORPHA:440437
472	ATM	HP:0000739	Anxiety	HP:0040282	ORPHA:440437
472	ATM	HP:0000750	Delayed speech and language development	1/2	OMIM:208900
472	ATM	HP:0000716	Depression	HP:0040282	ORPHA:440437
472	ATM	HP:0000708	Atypical behavior	HP:0040282	ORPHA:440437
472	ATM	HP:0011463	Childhood onset	2/2	OMIM:208900
472	ATM	HP:0000778	Hypoplasia of the thymus	-	OMIM:208900
472	ATM	HP:0000819	Diabetes mellitus	-	OMIM:208900
472	ATM	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:100
472	ATM	HP:0000823	Delayed puberty	-	OMIM:208900
472	ATM	HP:0000823	Delayed puberty	HP:0040281	ORPHA:100
472	ATM	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:100
472	ATM	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:100
472	ATM	HP:0100273	Neoplasm of the colon	HP:0040283	ORPHA:440437
472	ATM	HP:0000957	Cafe-au-lait spot	-	OMIM:208900
472	ATM	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040283	ORPHA:100
472	ATM	HP:0001595	Abnormal hair morphology	-	OMIM:208900
472	ATM	HP:0000252	Microcephaly	1/2	OMIM:208900
472	ATM	HP:0000246	Sinusitis	-	OMIM:208900
472	ATM	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:440437
472	ATM	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:440437
472	ATM	HP:0001508	Failure to thrive	HP:0040283	ORPHA:100
472	ATM	HP:0001508	Failure to thrive	39/104	OMIM:208900
472	ATM	HP:0002837	Recurrent bronchitis	-	OMIM:208900
472	ATM	HP:0012378	Fatigue	HP:0040281	ORPHA:440437
472	ATM	HP:0012378	Fatigue	HP:0040282	ORPHA:52416
472	ATM	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:100
472	ATM	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:52416
472	ATM	HP:0005374	Cellular immunodeficiency	HP:0040281	ORPHA:100
472	ATM	HP:0005357	Defective B cell differentiation	-	OMIM:208900
472	ATM	HP:0000486	Strabismus	HP:0040281	ORPHA:100
472	ATM	HP:0000486	Strabismus	-	OMIM:208900
472	ATM	HP:0000496	Abnormality of eye movement	HP:0040281	ORPHA:100
472	ATM	HP:0001744	Splenomegaly	HP:0040282	ORPHA:52416
472	ATM	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:440437
472	ATM	HP:0005403	Decreased total T cell count	-	OMIM:208900
472	ATM	HP:0006721	Acute lymphoblastic leukemia	1/2	OMIM:208900
472	ATM	HP:0000524	Conjunctival telangiectasia	2/2	OMIM:208900
472	ATM	HP:0001824	Weight loss	HP:0040281	ORPHA:440437
472	ATM	HP:0001824	Weight loss	HP:0040282	ORPHA:52416
472	ATM	HP:0000505	Visual impairment	HP:0040283	ORPHA:440437
472	ATM	HP:0001888	Decreased total lymphocyte count	-	OMIM:208900
472	ATM	HP:0001888	Decreased total lymphocyte count	HP:0040281	ORPHA:100
472	ATM	HP:0012539	Non-Hodgkin lymphoma	-	OMIM:208900
473	RERE	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1606
473	RERE	HP:0001159	Syndactyly	1/10	OMIM:616975
473	RERE	HP:0002465	Poor speech	HP:0040281	ORPHA:1606
473	RERE	HP:0001107	Ocular albinism	HP:0040283	ORPHA:1606
473	RERE	HP:0007305	CNS demyelination	HP:0040283	ORPHA:494344
473	RERE	HP:0009908	Anterior creases of earlobe	1/10	OMIM:616975
473	RERE	HP:0020206	Simple ear	1/10	OMIM:616975
473	RERE	HP:0008551	Microtia	HP:0040283	ORPHA:1606
473	RERE	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:1606
473	RERE	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1606
473	RERE	HP:0001285	Spastic tetraparesis	1/10	OMIM:616975
473	RERE	HP:0001250	Seizure	HP:0040283	ORPHA:494344
473	RERE	HP:0001250	Seizure	2/10	OMIM:616975
473	RERE	HP:0001250	Seizure	HP:0040282	ORPHA:1606
473	RERE	HP:0001252	Hypotonia	HP:0040282	ORPHA:494344
473	RERE	HP:0001252	Hypotonia	4/10	OMIM:616975
473	RERE	HP:0001252	Hypotonia	HP:0040281	ORPHA:1606
473	RERE	HP:0001249	Intellectual disability	HP:0040282	ORPHA:494344
473	RERE	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1606
473	RERE	HP:0001260	Dysarthria	1/10	OMIM:616975
473	RERE	HP:0002591	Polyphagia	HP:0040283	ORPHA:1606
473	RERE	HP:0001263	Global developmental delay	HP:0040282	ORPHA:494344
473	RERE	HP:0001263	Global developmental delay	10/10	OMIM:616975
473	RERE	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1606
473	RERE	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:1606
473	RERE	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:494344
473	RERE	HP:0006097	3-4 finger osseus syndactyly	1/10	OMIM:616975
473	RERE	HP:0000089	Renal hypoplasia	1/1	OMIM:616975
473	RERE	HP:0000098	Tall stature	2/9	OMIM:616975
473	RERE	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:1606
473	RERE	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:1606
473	RERE	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:1606
473	RERE	HP:0000076	Vesicoureteral reflux	3/10	OMIM:616975
473	RERE	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:494344
473	RERE	HP:0000041	Chordee	1/1	OMIM:616975
473	RERE	HP:0000055	Abnormal female external genitalia morphology	HP:0040283	ORPHA:1606
473	RERE	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:1606
473	RERE	HP:0001385	Hip dysplasia	1/10	OMIM:616975
473	RERE	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:494344
473	RERE	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1606
473	RERE	HP:0000047	Hypospadias	HP:0040283	ORPHA:1606
473	RERE	HP:0000047	Hypospadias	HP:0040283	ORPHA:494344
473	RERE	HP:0000047	Hypospadias	1/7	OMIM:616975
473	RERE	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1606
473	RERE	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:494344
473	RERE	HP:0000028	Cryptorchidism	1/7	OMIM:616975
473	RERE	HP:0007565	Multiple cafe-au-lait spots	1/10	OMIM:616975
473	RERE	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:494344
473	RERE	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:1606
473	RERE	HP:0033725	Thin corpus callosum	6/8	OMIM:616975
473	RERE	HP:0001344	Absent speech	HP:0040281	ORPHA:1606
473	RERE	HP:0000006	Autosomal dominant inheritance	-	OMIM:616975
473	RERE	HP:0001320	Cerebellar vermis hypoplasia	4/8	OMIM:616975
473	RERE	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:494344
473	RERE	HP:0002650	Scoliosis	HP:0040283	ORPHA:1606
473	RERE	HP:0002650	Scoliosis	HP:0040283	ORPHA:494344
473	RERE	HP:0002650	Scoliosis	1/10	OMIM:616975
473	RERE	HP:0000187	Broad alveolar ridges	1/10	OMIM:616975
473	RERE	HP:0012168	Head-banging	1/10	OMIM:616975
473	RERE	HP:0000160	Narrow mouth	HP:0040282	ORPHA:1606
473	RERE	HP:0000135	Hypogonadism	HP:0040283	ORPHA:1606
473	RERE	HP:0410030	Cleft lip	1/10	OMIM:616975
473	RERE	HP:0012110	Hypoplasia of the pons	1/8	OMIM:616975
473	RERE	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:494344
473	RERE	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1606
473	RERE	HP:0000107	Renal cyst	1/10	OMIM:616975
473	RERE	HP:0000107	Renal cyst	HP:0040283	ORPHA:1606
473	RERE	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:1606
473	RERE	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:1606
473	RERE	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:1606
473	RERE	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:494344
473	RERE	HP:0002020	Gastroesophageal reflux	3/10	OMIM:616975
473	RERE	HP:0002019	Constipation	HP:0040282	ORPHA:1606
473	RERE	HP:0002033	Poor suck	2/2	OMIM:616975
473	RERE	HP:0002033	Poor suck	HP:0040283	ORPHA:494344
473	RERE	HP:0002015	Dysphagia	HP:0040282	ORPHA:1606
473	RERE	HP:0002015	Dysphagia	HP:0040283	ORPHA:494344
473	RERE	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1606
473	RERE	HP:0002007	Frontal bossing	HP:0040283	ORPHA:494344
473	RERE	HP:0002007	Frontal bossing	2/10	OMIM:616975
473	RERE	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1606
473	RERE	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:1606
473	RERE	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:494344
473	RERE	HP:0002079	Hypoplasia of the corpus callosum	6/8	OMIM:616975
473	RERE	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1606
473	RERE	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1606
473	RERE	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:494344
473	RERE	HP:0002119	Ventriculomegaly	3/8	OMIM:616975
473	RERE	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:1606
473	RERE	HP:0002188	Delayed CNS myelination	2/8	OMIM:616975
473	RERE	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1606
473	RERE	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1606
473	RERE	HP:0010535	Sleep apnea	1/10	OMIM:616975
473	RERE	HP:0003593	Infantile onset	-	OMIM:616975
473	RERE	HP:0003577	Congenital onset	6/8	OMIM:616975
473	RERE	HP:0002242	Abnormal intestine morphology	HP:0040283	ORPHA:1606
473	RERE	HP:0100704	Cerebral visual impairment	1/1	OMIM:616975
473	RERE	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:494344
473	RERE	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:494344
473	RERE	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:1606
473	RERE	HP:0002247	Duodenal atresia	1/10	OMIM:616975
473	RERE	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:1606
473	RERE	HP:0007018	Attention deficit hyperactivity disorder	2/10	OMIM:616975
473	RERE	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:494344
473	RERE	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:494344
473	RERE	HP:0011968	Feeding difficulties	5/10	OMIM:616975
473	RERE	HP:0002384	Focal impaired awareness seizure	1/1	OMIM:616975
473	RERE	HP:0001009	Telangiectasia	HP:0040283	ORPHA:1606
473	RERE	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1606
473	RERE	HP:0008499	High hypermetropia	HP:0040282	ORPHA:1606
473	RERE	HP:0010772	Anomalous pulmonary venous return	1/10	OMIM:616975
473	RERE	HP:0003623	Neonatal onset	2/8	OMIM:616975
473	RERE	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1606
473	RERE	HP:0004209	Clinodactyly of the 5th finger	2/10	OMIM:616975
473	RERE	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:1606
473	RERE	HP:0000639	Nystagmus	HP:0040283	ORPHA:1606
473	RERE	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1606
473	RERE	HP:0000648	Optic atrophy	HP:0040283	ORPHA:494344
473	RERE	HP:0000648	Optic atrophy	2/10	OMIM:616975
473	RERE	HP:0000612	Iris coloboma	HP:0040283	ORPHA:494344
473	RERE	HP:0000609	Optic nerve hypoplasia	1/1	OMIM:616975
473	RERE	HP:0000601	Hypotelorism	1/10	OMIM:616975
473	RERE	HP:0000659	Peters anomaly	HP:0040283	ORPHA:494344
473	RERE	HP:0000659	Peters anomaly	1/10	OMIM:616975
473	RERE	HP:0011304	Broad thumb	2/2	OMIM:616975
473	RERE	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:494344
473	RERE	HP:0004322	Short stature	3/9	OMIM:616975
473	RERE	HP:0004322	Short stature	HP:0040283	ORPHA:1606
473	RERE	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1606
473	RERE	HP:0004378	Abnormality of the anus	HP:0040283	ORPHA:1606
473	RERE	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:1606
473	RERE	HP:0031910	Abnormal cranial nerve physiology	HP:0040283	ORPHA:494344
473	RERE	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:1606
473	RERE	HP:0012733	Macule	HP:0040283	ORPHA:1606
473	RERE	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:1606
473	RERE	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:1606
473	RERE	HP:0000717	Autism	HP:0040282	ORPHA:1606
473	RERE	HP:0000729	Autistic behavior	HP:0040283	ORPHA:494344
473	RERE	HP:0000729	Autistic behavior	10/10	OMIM:616975
473	RERE	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1606
473	RERE	HP:0000708	Atypical behavior	HP:0040283	ORPHA:494344
473	RERE	HP:0003198	Myopathy	HP:0040283	ORPHA:1606
473	RERE	HP:0003186	Inverted nipples	1/10	OMIM:616975
473	RERE	HP:0034295	Reduced cerebral white matter volume	6/8	OMIM:616975
473	RERE	HP:0000902	Rib fusion	HP:0040283	ORPHA:1606
473	RERE	HP:0004467	Preauricular pit	1/10	OMIM:616975
473	RERE	HP:0000878	11 pairs of ribs	HP:0040283	ORPHA:1606
473	RERE	HP:0000892	Bifid ribs	HP:0040283	ORPHA:1606
473	RERE	HP:0012803	Anisometropia	HP:0040283	ORPHA:494344
473	RERE	HP:0012803	Anisometropia	1/1	OMIM:616975
473	RERE	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1606
473	RERE	HP:0000954	Single transverse palmar crease	2/2	OMIM:616975
473	RERE	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:1606
473	RERE	HP:0000286	Epicanthus	HP:0040282	ORPHA:1606
473	RERE	HP:0000286	Epicanthus	HP:0040283	ORPHA:494344
473	RERE	HP:0000286	Epicanthus	2/10	OMIM:616975
473	RERE	HP:0000256	Macrocephaly	2/9	OMIM:616975
473	RERE	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:1606
473	RERE	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:1606
473	RERE	HP:0002808	Kyphosis	HP:0040283	ORPHA:1606
473	RERE	HP:0000252	Microcephaly	2/9	OMIM:616975
473	RERE	HP:0000252	Microcephaly	HP:0040282	ORPHA:1606
473	RERE	HP:0000248	Brachycephaly	HP:0040282	ORPHA:1606
473	RERE	HP:0000221	Furrowed tongue	1/10	OMIM:616975
473	RERE	HP:0000218	High palate	1/10	OMIM:616975
473	RERE	HP:0001561	Polyhydramnios	1/1	OMIM:616975
473	RERE	HP:0001508	Failure to thrive	HP:0040281	ORPHA:1606
473	RERE	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:494344
473	RERE	HP:0001511	Intrauterine growth retardation	2/10	OMIM:616975
473	RERE	HP:0001513	Obesity	HP:0040283	ORPHA:1606
473	RERE	HP:0002938	Lumbar hyperlordosis	1/10	OMIM:616975
473	RERE	HP:0000365	Hearing impairment	HP:0040283	ORPHA:494344
473	RERE	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1606
473	RERE	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:494344
473	RERE	HP:0000358	Posteriorly rotated ears	1/10	OMIM:616975
473	RERE	HP:0000369	Low-set ears	1/10	OMIM:616975
473	RERE	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:1606
473	RERE	HP:0000343	Long philtrum	HP:0040281	ORPHA:1606
473	RERE	HP:0000349	Widow's peak	1/10	OMIM:616975
473	RERE	HP:0000347	Micrognathia	HP:0040283	ORPHA:494344
473	RERE	HP:0000347	Micrognathia	2/10	OMIM:616975
473	RERE	HP:0000319	Smooth philtrum	1/10	OMIM:616975
473	RERE	HP:0000316	Hypertelorism	1/10	OMIM:616975
473	RERE	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1606
473	RERE	HP:0001643	Patent ductus arteriosus	1/10	OMIM:616975
473	RERE	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:1606
473	RERE	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:1606
473	RERE	HP:0000325	Triangular face	1/10	OMIM:616975
473	RERE	HP:0001655	Patent foramen ovale	1/10	OMIM:616975
473	RERE	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:494344
473	RERE	HP:0001629	Ventricular septal defect	4/10	OMIM:616975
473	RERE	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:494344
473	RERE	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1606
473	RERE	HP:0000307	Pointed chin	HP:0040281	ORPHA:1606
473	RERE	HP:0030303	Hypoplastic anterior commissure	1/8	OMIM:616975
473	RERE	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:1606
473	RERE	HP:0000407	Sensorineural hearing impairment	1/10	OMIM:616975
473	RERE	HP:0001734	Annular pancreas	1/10	OMIM:616975
473	RERE	HP:0001734	Annular pancreas	HP:0040283	ORPHA:1606
473	RERE	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:1606
473	RERE	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1606
473	RERE	HP:0000483	Astigmatism	1/1	OMIM:616975
473	RERE	HP:0000483	Astigmatism	HP:0040283	ORPHA:494344
473	RERE	HP:0000486	Strabismus	HP:0040282	ORPHA:1606
473	RERE	HP:0000486	Strabismus	HP:0040283	ORPHA:494344
473	RERE	HP:0000486	Strabismus	1/10	OMIM:616975
473	RERE	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:494344
473	RERE	HP:0000494	Downslanted palpebral fissures	2/10	OMIM:616975
473	RERE	HP:0000490	Deeply set eye	HP:0040281	ORPHA:1606
473	RERE	HP:0000490	Deeply set eye	3/20	OMIM:616975
473	RERE	HP:0001792	Small nail	1/10	OMIM:616975
473	RERE	HP:0000464	Abnormality of the neck	HP:0040283	ORPHA:1606
473	RERE	HP:0000463	Anteverted nares	HP:0040283	ORPHA:494344
473	RERE	HP:0000463	Anteverted nares	1/10	OMIM:616975
473	RERE	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:1606
473	RERE	HP:0001773	Short foot	HP:0040281	ORPHA:1606
473	RERE	HP:0000453	Choanal atresia	1/10	OMIM:616975
473	RERE	HP:0000453	Choanal atresia	HP:0040283	ORPHA:494344
473	RERE	HP:0000414	Bulbous nose	1/10	OMIM:616975
473	RERE	HP:0001743	Abnormality of the spleen	HP:0040283	ORPHA:1606
473	RERE	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1606
473	RERE	HP:0000518	Cataract	HP:0040283	ORPHA:1606
473	RERE	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:1606
473	RERE	HP:0000508	Ptosis	HP:0040283	ORPHA:494344
473	RERE	HP:0000505	Visual impairment	HP:0040283	ORPHA:1606
473	RERE	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1606
473	RERE	HP:0000582	Upslanted palpebral fissure	1/10	OMIM:616975
473	RERE	HP:0000581	Blepharophimosis	1/10	OMIM:616975
473	RERE	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:494344
473	RERE	HP:0011240	Prominent stem of antihelix	1/10	OMIM:616975
473	RERE	HP:0000577	Exotropia	HP:0040283	ORPHA:494344
473	RERE	HP:0011229	Broad eyebrow	HP:0040283	ORPHA:494344
473	RERE	HP:0011229	Broad eyebrow	2/10	OMIM:616975
473	RERE	HP:0011228	Horizontal eyebrow	HP:0040281	ORPHA:1606
473	RERE	HP:0000589	Coloboma	2/10	OMIM:616975
473	RERE	HP:0000568	Microphthalmia	2/10	OMIM:616975
473	RERE	HP:0000568	Microphthalmia	HP:0040283	ORPHA:494344
473	RERE	HP:0000565	Esotropia	HP:0040283	ORPHA:494344
473	RERE	HP:0000567	Chorioretinal coloboma	HP:0040283	ORPHA:494344
473	RERE	HP:0000534	Abnormal eyebrow morphology	HP:0040282	ORPHA:1606
473	RERE	HP:0000545	Myopia	HP:0040283	ORPHA:494344
474	ATOH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620284
474	ATOH1	HP:0003577	Congenital onset	-	OMIM:620284
474	ATOH1	HP:0011463	Childhood onset	-	OMIM:620284
474	ATOH1	HP:0000365	Hearing impairment	-	OMIM:620284
476	ATP1A1	HP:0002465	Poor speech	HP:0040282	ORPHA:564178
476	ATP1A1	HP:0002460	Distal muscle weakness	-	OMIM:618036
476	ATP1A1	HP:0001284	Areflexia	-	OMIM:618036
476	ATP1A1	HP:0001250	Seizure	3/3	OMIM:618314
476	ATP1A1	HP:0001265	Hyporeflexia	-	OMIM:618036
476	ATP1A1	HP:0001263	Global developmental delay	3/3	OMIM:618314
476	ATP1A1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:564178
476	ATP1A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618314
476	ATP1A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618036
476	ATP1A1	HP:0012169	Self-biting	1/3	OMIM:618314
476	ATP1A1	HP:0000121	Nephrocalcinosis	0/3	OMIM:618314
476	ATP1A1	HP:0000121	Nephrocalcinosis	HP:0040282	ORPHA:564178
476	ATP1A1	HP:0000128	Renal potassium wasting	-	OMIM:618314
476	ATP1A1	HP:0000128	Renal potassium wasting	HP:0040282	ORPHA:564178
476	ATP1A1	HP:0000103	Polyuria	2/3	OMIM:618314
476	ATP1A1	HP:0003394	Muscle spasm	-	OMIM:618036
476	ATP1A1	HP:0003376	Steppage gait	-	OMIM:618036
476	ATP1A1	HP:0002119	Ventriculomegaly	1/3	OMIM:618314
476	ATP1A1	HP:0002133	Status epilepticus	2/3	OMIM:618314
476	ATP1A1	HP:0002133	Status epilepticus	HP:0040282	ORPHA:564178
476	ATP1A1	HP:0002197	Generalized-onset seizure	3/3	OMIM:618314
476	ATP1A1	HP:0002197	Generalized-onset seizure	HP:0040282	ORPHA:564178
476	ATP1A1	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:564178
476	ATP1A1	HP:0003593	Infantile onset	2/3	OMIM:618314
476	ATP1A1	HP:0003581	Adult onset	-	OMIM:618036
476	ATP1A1	HP:0003693	Distal amyotrophy	-	OMIM:618036
476	ATP1A1	HP:0003677	Slowly progressive	-	OMIM:618036
476	ATP1A1	HP:0007141	Sensorimotor neuropathy	-	OMIM:618036
476	ATP1A1	HP:0003623	Neonatal onset	1/3	OMIM:618314
476	ATP1A1	HP:0003621	Juvenile onset	-	OMIM:618036
476	ATP1A1	HP:0006872	Cerebral hypoplasia	HP:0040282	ORPHA:564178
476	ATP1A1	HP:0005567	Renal magnesium wasting	2/2	OMIM:618314
476	ATP1A1	HP:0005567	Renal magnesium wasting	HP:0040282	ORPHA:564178
476	ATP1A1	HP:0006886	Impaired distal vibration sensation	-	OMIM:618036
476	ATP1A1	HP:0009027	Foot dorsiflexor weakness	-	OMIM:618036
476	ATP1A1	HP:0000752	Hyperactivity	1/3	OMIM:618314
476	ATP1A1	HP:0012726	Episodic hypokalemia	HP:0040282	ORPHA:564178
476	ATP1A1	HP:0000729	Autistic behavior	HP:0040282	ORPHA:564178
476	ATP1A1	HP:0002917	Hypomagnesemia	HP:0040282	ORPHA:564178
476	ATP1A1	HP:0002917	Hypomagnesemia	3/3	OMIM:618314
476	ATP1A1	HP:0002900	Hypokalemia	3/3	OMIM:618314
476	ATP1A1	HP:0001761	Pes cavus	-	OMIM:618036
477	ATP1A2	HP:0002483	Bulbar signs	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0002463	Language impairment	HP:0040283	ORPHA:569
477	ATP1A2	HP:0001125	Transient unilateral blurring of vision	-	OMIM:602481
477	ATP1A2	HP:0020221	Clonic seizure	1/6	OMIM:619605
477	ATP1A2	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0007240	Progressive gait ataxia	HP:0040282	ORPHA:569
477	ATP1A2	HP:0007209	Facial paralysis	HP:0040283	ORPHA:569
477	ATP1A2	HP:0010851	EEG with burst suppression	1/6	OMIM:619605
477	ATP1A2	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
477	ATP1A2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
477	ATP1A2	HP:0001272	Cerebellar atrophy	1/6	OMIM:619605
477	ATP1A2	HP:0001272	Cerebellar atrophy	1/5	OMIM:602481
477	ATP1A2	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:569
477	ATP1A2	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0001269	Hemiparesis	HP:0040282	ORPHA:569
477	ATP1A2	HP:0001269	Hemiparesis	8/8	OMIM:602481
477	ATP1A2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0001289	Confusion	HP:0040282	ORPHA:569
477	ATP1A2	HP:0001289	Confusion	7/8	OMIM:602481
477	ATP1A2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0001284	Areflexia	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0001250	Seizure	HP:0040282	ORPHA:442835
477	ATP1A2	HP:0001250	Seizure	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0001252	Hypotonia	4/6	OMIM:619605
477	ATP1A2	HP:0001252	Hypotonia	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0001251	Ataxia	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0002579	Gastrointestinal dysmotility	HP:0040281	ORPHA:2131
477	ATP1A2	HP:0001249	Intellectual disability	4/5	OMIM:104290
477	ATP1A2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
477	ATP1A2	HP:0001249	Intellectual disability	HP:0040284	ORPHA:569
477	ATP1A2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0001249	Intellectual disability	0/8	OMIM:602481
477	ATP1A2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
477	ATP1A2	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0001266	Choreoathetosis	-	OMIM:104290
477	ATP1A2	HP:0001260	Dysarthria	-	OMIM:602481
477	ATP1A2	HP:0001260	Dysarthria	HP:0040282	ORPHA:569
477	ATP1A2	HP:0001260	Dysarthria	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0001263	Global developmental delay	5/6	OMIM:619605
477	ATP1A2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
477	ATP1A2	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0001259	Coma	HP:0040283	ORPHA:569
477	ATP1A2	HP:0001259	Coma	6/8	OMIM:602481
477	ATP1A2	HP:0410263	Brain imaging abnormality	-	ORPHA:2131
477	ATP1A2	HP:0007363	Aplasia/Hypoplasia of the pyramidal tract	3/3	OMIM:619602
477	ATP1A2	HP:0007359	Focal-onset seizure	4/6	OMIM:619605
477	ATP1A2	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/6	OMIM:619605
477	ATP1A2	HP:0002536	Abnormal cortical gyration	4/4	OMIM:619602
477	ATP1A2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0003829	Typified by incomplete penetrance	-	OMIM:602481
477	ATP1A2	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
477	ATP1A2	HP:0003819	Death in childhood	1/6	OMIM:619605
477	ATP1A2	HP:0003811	Neonatal death	2/2	OMIM:619602
477	ATP1A2	HP:0012044	Seesaw nystagmus	HP:0040283	ORPHA:569
477	ATP1A2	HP:0000023	Inguinal hernia	1/3	OMIM:619602
477	ATP1A2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0032506	Alien limb phenomenon	HP:0040283	ORPHA:569
477	ATP1A2	HP:0031179	Nuchal rigidity	HP:0040283	ORPHA:569
477	ATP1A2	HP:0001332	Dystonia	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0001332	Dystonia	-	OMIM:104290
477	ATP1A2	HP:0033725	Thin corpus callosum	1/6	OMIM:619605
477	ATP1A2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:569
477	ATP1A2	HP:0001344	Absent speech	1/6	OMIM:619605
477	ATP1A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619602
477	ATP1A2	HP:0001337	Tremor	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0001337	Tremor	1/8	OMIM:602481
477	ATP1A2	HP:0001337	Tremor	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619605
477	ATP1A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:104290
477	ATP1A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:602481
477	ATP1A2	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0001310	Dysmetria	1/8	OMIM:602481
477	ATP1A2	HP:0001308	Tongue fasciculations	HP:0040282	ORPHA:569
477	ATP1A2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0012194	Episodic hemiplegia	5/5	OMIM:104290
477	ATP1A2	HP:0012194	Episodic hemiplegia	HP:0040281	ORPHA:2131
477	ATP1A2	HP:0008959	Distal upper limb muscle weakness	HP:0040283	ORPHA:569
477	ATP1A2	HP:0031284	Flushing	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0002018	Nausea	8/8	OMIM:602481
477	ATP1A2	HP:0002019	Constipation	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0002014	Diarrhea	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0002015	Dysphagia	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0002013	Vomiting	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0002098	Respiratory distress	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0002069	Bilateral tonic-clonic seizure	1/6	OMIM:619605
477	ATP1A2	HP:0002069	Bilateral tonic-clonic seizure	4/8	OMIM:602481
477	ATP1A2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0002069	Bilateral tonic-clonic seizure	4/5	OMIM:104290
477	ATP1A2	HP:0002066	Gait ataxia	1/8	OMIM:602481
477	ATP1A2	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0002063	Rigidity	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0003392	First dorsal interossei muscle weakness	HP:0040284	ORPHA:569
477	ATP1A2	HP:0002076	Migraine	8/8	OMIM:602481
477	ATP1A2	HP:0002077	Migraine with aura	HP:0040281	ORPHA:569
477	ATP1A2	HP:0002077	Migraine with aura	3/8	OMIM:602481
477	ATP1A2	HP:0002072	Chorea	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0002039	Anorexia	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0002059	Cerebral atrophy	1/6	OMIM:619605
477	ATP1A2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0100576	Amaurosis fugax	HP:0040284	ORPHA:569
477	ATP1A2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:569
477	ATP1A2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
477	ATP1A2	HP:0002133	Status epilepticus	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0002131	Episodic ataxia	-	OMIM:602481
477	ATP1A2	HP:0002126	Polymicrogyria	4/4	OMIM:619602
477	ATP1A2	HP:0002104	Apnea	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0002186	Apraxia	-	OMIM:602481
477	ATP1A2	HP:0002181	Cerebral edema	HP:0040282	ORPHA:569
477	ATP1A2	HP:0002181	Cerebral edema	2/6	OMIM:602481
477	ATP1A2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:569
477	ATP1A2	HP:0002172	Postural instability	HP:0040282	ORPHA:569
477	ATP1A2	HP:0010544	Vertical nystagmus	HP:0040283	ORPHA:569
477	ATP1A2	HP:0010535	Sleep apnea	1/6	OMIM:619605
477	ATP1A2	HP:0003401	Paresthesia	HP:0040282	ORPHA:569
477	ATP1A2	HP:0002263	Exaggerated cupid's bow	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0003593	Infantile onset	1/6	OMIM:619605
477	ATP1A2	HP:0002273	Tetraparesis	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0100710	Impulsivity	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0200149	CSF lymphocytic pleiocytosis	HP:0040282	ORPHA:569
477	ATP1A2	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0007018	Attention deficit hyperactivity disorder	1/6	OMIM:619605
477	ATP1A2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0032044	Decreased vigilance	HP:0040283	ORPHA:569
477	ATP1A2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0007074	Thick corpus callosum	1/6	OMIM:619605
477	ATP1A2	HP:0002381	Aphasia	HP:0040283	ORPHA:569
477	ATP1A2	HP:0002381	Aphasia	18/18	OMIM:602481
477	ATP1A2	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
477	ATP1A2	HP:0002376	Developmental regression	1/5	OMIM:104290
477	ATP1A2	HP:0002344	Progressive neurologic deterioration	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0002353	EEG abnormality	-	ORPHA:2131
477	ATP1A2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:569
477	ATP1A2	HP:0002321	Vertigo	HP:0040282	ORPHA:569
477	ATP1A2	HP:0002321	Vertigo	-	OMIM:602481
477	ATP1A2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0002315	Headache	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0002315	Headache	0/5	OMIM:104290
477	ATP1A2	HP:0002329	Drowsiness	-	OMIM:602481
477	ATP1A2	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
477	ATP1A2	HP:0010835	Dissociated sensory loss	HP:0040282	ORPHA:569
477	ATP1A2	HP:0010833	Spontaneous pain sensation	HP:0040283	ORPHA:569
477	ATP1A2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:569
477	ATP1A2	HP:0200072	Episodic quadriplegia	5/5	OMIM:104290
477	ATP1A2	HP:0007166	Paroxysmal dyskinesia	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0002301	Hemiplegia	HP:0040283	ORPHA:569
477	ATP1A2	HP:0002301	Hemiplegia	-	OMIM:602481
477	ATP1A2	HP:0003623	Neonatal onset	1/6	OMIM:619605
477	ATP1A2	HP:0003621	Juvenile onset	3/6	OMIM:619605
477	ATP1A2	HP:0003621	Juvenile onset	3/7	OMIM:602481
477	ATP1A2	HP:0000639	Nystagmus	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0000639	Nystagmus	-	OMIM:104290
477	ATP1A2	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0000639	Nystagmus	1/8	OMIM:602481
477	ATP1A2	HP:0000651	Diplopia	HP:0040282	ORPHA:569
477	ATP1A2	HP:0000651	Diplopia	-	OMIM:602481
477	ATP1A2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
477	ATP1A2	HP:0001944	Dehydration	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0001945	Fever	5/8	OMIM:602481
477	ATP1A2	HP:0000622	Blurred vision	-	OMIM:602481
477	ATP1A2	HP:0012650	Perisylvian polymicrogyria	1/6	OMIM:619605
477	ATP1A2	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0001989	Fetal akinesia sequence	3/3	OMIM:619602
477	ATP1A2	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0004322	Short stature	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0004305	Involuntary movements	HP:0040282	ORPHA:569
477	ATP1A2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0031931	Ocular flutter	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
477	ATP1A2	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0000717	Autism	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0000712	Emotional lability	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0011499	Mydriasis	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0011468	Facial tics	HP:0040282	ORPHA:569
477	ATP1A2	HP:0011463	Childhood onset	2/6	OMIM:619605
477	ATP1A2	HP:0011463	Childhood onset	4/4	OMIM:104290
477	ATP1A2	HP:0011462	Young adult onset	4/7	OMIM:602481
477	ATP1A2	HP:0011461	Fetal onset	3/3	OMIM:619602
477	ATP1A2	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
477	ATP1A2	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0030786	Photopsia	HP:0040282	ORPHA:569
477	ATP1A2	HP:0000817	Reduced eye contact	1/6	OMIM:619605
477	ATP1A2	HP:0003270	Abdominal distention	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0045074	Thin eyebrow	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0000980	Pallor	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0011675	Arrhythmia	HP:0040284	ORPHA:2131
477	ATP1A2	HP:0000297	Facial hypotonia	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0005135	Abnormal T-wave	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0012229	CSF pleocytosis	HP:0040282	ORPHA:569
477	ATP1A2	HP:0032649	Skewfoot	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0000252	Microcephaly	4/4	OMIM:619602
477	ATP1A2	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0001561	Polyhydramnios	3/3	OMIM:619602
477	ATP1A2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0001522	Death in infancy	1/6	OMIM:619605
477	ATP1A2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
477	ATP1A2	HP:0002835	Aspiration	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0032867	Refractory status epilepticus	2/6	OMIM:619605
477	ATP1A2	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:569
477	ATP1A2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:569
477	ATP1A2	HP:0000360	Tinnitus	HP:0040283	ORPHA:569
477	ATP1A2	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040281	ORPHA:2131
477	ATP1A2	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0000348	High forehead	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0000348	High forehead	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:2131
477	ATP1A2	HP:0011196	EEG with focal sharp waves	HP:0040284	ORPHA:569
477	ATP1A2	HP:0011199	EEG with generalized sharp slow waves	HP:0040283	ORPHA:569
477	ATP1A2	HP:0011172	Complex febrile seizure	HP:0040282	ORPHA:569
477	ATP1A2	HP:0011157	Focal sensory seizure	HP:0040281	ORPHA:569
477	ATP1A2	HP:0011153	Focal motor seizure	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:569
477	ATP1A2	HP:0011153	Focal motor seizure	1/8	OMIM:602481
477	ATP1A2	HP:0007979	Gaze-evoked horizontal nystagmus	HP:0040283	ORPHA:569
477	ATP1A2	HP:0032901	Focal pedal automatism seizure	HP:0040282	ORPHA:569
477	ATP1A2	HP:0032900	Focal manual automatism seizure	HP:0040282	ORPHA:569
477	ATP1A2	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:2131
477	ATP1A2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0005484	Secondary microcephaly	2/6	OMIM:619605
477	ATP1A2	HP:0012508	Metamorphopsia	HP:0040282	ORPHA:569
477	ATP1A2	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
477	ATP1A2	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
477	ATP1A2	HP:0000575	Scotoma	HP:0040282	ORPHA:569
477	ATP1A2	HP:0000577	Exotropia	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
477	ATP1A2	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0000565	Esotropia	HP:0040282	ORPHA:2131
477	ATP1A2	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
478	ATP1A3	HP:0002483	Bulbar signs	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0002483	Bulbar signs	8/11	OMIM:128235
478	ATP1A3	HP:0002451	Limb dystonia	HP:0040282	ORPHA:71517
478	ATP1A3	HP:0002445	Tetraplegia	-	OMIM:614820
478	ATP1A3	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0001298	Encephalopathy	HP:0040281	ORPHA:1171
478	ATP1A3	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
478	ATP1A3	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
478	ATP1A3	HP:0001290	Generalized hypotonia	HP:0040284	ORPHA:71517
478	ATP1A3	HP:0001272	Cerebellar atrophy	1/16	OMIM:619606
478	ATP1A3	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:71517
478	ATP1A3	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0001270	Motor delay	HP:0040282	ORPHA:71517
478	ATP1A3	HP:0001269	Hemiparesis	1/1	OMIM:601338
478	ATP1A3	HP:0001268	Mental deterioration	-	OMIM:614820
478	ATP1A3	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0001284	Areflexia	HP:0040281	ORPHA:1171
478	ATP1A3	HP:0001284	Areflexia	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0001284	Areflexia	11/11	OMIM:601338
478	ATP1A3	HP:0001250	Seizure	HP:0040282	ORPHA:442835
478	ATP1A3	HP:0001250	Seizure	1/10	OMIM:601338
478	ATP1A3	HP:0001250	Seizure	HP:0040283	ORPHA:1171
478	ATP1A3	HP:0001250	Seizure	HP:0040283	ORPHA:71517
478	ATP1A3	HP:0001250	Seizure	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0001250	Seizure	-	OMIM:614820
478	ATP1A3	HP:0001252	Hypotonia	1/1	OMIM:601338
478	ATP1A3	HP:0001252	Hypotonia	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0001251	Ataxia	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0001251	Ataxia	1/1	OMIM:601338
478	ATP1A3	HP:0001251	Ataxia	-	OMIM:614820
478	ATP1A3	HP:0001251	Ataxia	HP:0040281	ORPHA:1171
478	ATP1A3	HP:0002579	Gastrointestinal dysmotility	HP:0040281	ORPHA:2131
478	ATP1A3	HP:0001249	Intellectual disability	-	OMIM:619606
478	ATP1A3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
478	ATP1A3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0001249	Intellectual disability	-	OMIM:614820
478	ATP1A3	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
478	ATP1A3	HP:0001266	Choreoathetosis	-	OMIM:614820
478	ATP1A3	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0001260	Dysarthria	4/11	OMIM:601338
478	ATP1A3	HP:0001260	Dysarthria	-	OMIM:614820
478	ATP1A3	HP:0001260	Dysarthria	-	OMIM:128235
478	ATP1A3	HP:0001260	Dysarthria	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0001260	Dysarthria	HP:0040282	ORPHA:71517
478	ATP1A3	HP:0001263	Global developmental delay	13/16	OMIM:619606
478	ATP1A3	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
478	ATP1A3	HP:0001263	Global developmental delay	-	OMIM:614820
478	ATP1A3	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0410263	Brain imaging abnormality	-	ORPHA:2131
478	ATP1A3	HP:0007366	Atrophy/Degeneration affecting the brainstem	1/16	OMIM:619606
478	ATP1A3	HP:0007359	Focal-onset seizure	7/16	OMIM:619606
478	ATP1A3	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0003829	Typified by incomplete penetrance	-	OMIM:128235
478	ATP1A3	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
478	ATP1A3	HP:0001385	Hip dysplasia	2/16	OMIM:619606
478	ATP1A3	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0031165	Multifocal seizures	3/16	OMIM:619606
478	ATP1A3	HP:0001332	Dystonia	1/10	OMIM:601338
478	ATP1A3	HP:0001332	Dystonia	-	OMIM:614820
478	ATP1A3	HP:0001332	Dystonia	-	OMIM:128235
478	ATP1A3	HP:0001332	Dystonia	HP:0040283	ORPHA:1171
478	ATP1A3	HP:0001332	Dystonia	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0033725	Thin corpus callosum	1/16	OMIM:619606
478	ATP1A3	HP:0001324	Muscle weakness	10/10	OMIM:601338
478	ATP1A3	HP:0001324	Muscle weakness	HP:0040281	ORPHA:1171
478	ATP1A3	HP:0000012	Urinary urgency	1/10	OMIM:601338
478	ATP1A3	HP:0001337	Tremor	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0001337	Tremor	5/11	OMIM:128235
478	ATP1A3	HP:0001337	Tremor	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:619606
478	ATP1A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:128235
478	ATP1A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:601338
478	ATP1A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:614820
478	ATP1A3	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0001310	Dysmetria	2/10	OMIM:601338
478	ATP1A3	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0001300	Parkinsonism	-	OMIM:128235
478	ATP1A3	HP:0001300	Parkinsonism	HP:0040282	ORPHA:71517
478	ATP1A3	HP:0012194	Episodic hemiplegia	HP:0040281	ORPHA:2131
478	ATP1A3	HP:0012179	Craniofacial dystonia	HP:0040282	ORPHA:71517
478	ATP1A3	HP:0025430	High-pitched cry	1/16	OMIM:619606
478	ATP1A3	HP:0031284	Flushing	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0002019	Constipation	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0002014	Diarrhea	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0002015	Dysphagia	3/11	OMIM:601338
478	ATP1A3	HP:0002015	Dysphagia	-	OMIM:128235
478	ATP1A3	HP:0002015	Dysphagia	HP:0040283	ORPHA:1171
478	ATP1A3	HP:0002015	Dysphagia	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0002015	Dysphagia	HP:0040282	ORPHA:71517
478	ATP1A3	HP:0002013	Vomiting	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:1171
478	ATP1A3	HP:0002098	Respiratory distress	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0002069	Bilateral tonic-clonic seizure	2/16	OMIM:619606
478	ATP1A3	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0002067	Bradykinesia	-	OMIM:128235
478	ATP1A3	HP:0002067	Bradykinesia	1/1	OMIM:601338
478	ATP1A3	HP:0002067	Bradykinesia	HP:0040282	ORPHA:71517
478	ATP1A3	HP:0002066	Gait ataxia	6/11	OMIM:601338
478	ATP1A3	HP:0002066	Gait ataxia	HP:0040282	ORPHA:71517
478	ATP1A3	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0002063	Rigidity	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0002078	Truncal ataxia	-	OMIM:601338
478	ATP1A3	HP:0002072	Chorea	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0002039	Anorexia	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0003477	Peripheral axonal neuropathy	1/10	OMIM:601338
478	ATP1A3	HP:0002121	Generalized non-motor (absence) seizure	1/16	OMIM:619606
478	ATP1A3	HP:0002119	Ventriculomegaly	1/16	OMIM:619606
478	ATP1A3	HP:0002133	Status epilepticus	-	OMIM:614820
478	ATP1A3	HP:0002133	Status epilepticus	8/16	OMIM:619606
478	ATP1A3	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
478	ATP1A3	HP:0002133	Status epilepticus	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0002131	Episodic ataxia	10/10	OMIM:601338
478	ATP1A3	HP:0002104	Apnea	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0002188	Delayed CNS myelination	1/16	OMIM:619606
478	ATP1A3	HP:0002172	Postural instability	-	OMIM:128235
478	ATP1A3	HP:0002172	Postural instability	1/1	OMIM:601338
478	ATP1A3	HP:0002172	Postural instability	HP:0040282	ORPHA:71517
478	ATP1A3	HP:0002263	Exaggerated cupid's bow	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0003593	Infantile onset	6/16	OMIM:619606
478	ATP1A3	HP:0003593	Infantile onset	3/10	OMIM:601338
478	ATP1A3	HP:0002273	Tetraparesis	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0003577	Congenital onset	5/16	OMIM:619606
478	ATP1A3	HP:0100710	Impulsivity	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0020049	Exodeviation	1/16	OMIM:619606
478	ATP1A3	HP:0007074	Thick corpus callosum	2/16	OMIM:619606
478	ATP1A3	HP:0002384	Focal impaired awareness seizure	2/16	OMIM:619606
478	ATP1A3	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
478	ATP1A3	HP:0002344	Progressive neurologic deterioration	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0002353	EEG abnormality	-	ORPHA:2131
478	ATP1A3	HP:0002322	Resting tremor	HP:0040283	ORPHA:71517
478	ATP1A3	HP:0002317	Unsteady gait	-	OMIM:128235
478	ATP1A3	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0002315	Headache	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0010841	Multifocal epileptiform discharges	9/16	OMIM:619606
478	ATP1A3	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
478	ATP1A3	HP:0025097	Eyelid myoclonus	1/16	OMIM:619606
478	ATP1A3	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0200072	Episodic quadriplegia	-	OMIM:614820
478	ATP1A3	HP:0007166	Paroxysmal dyskinesia	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0002300	Mutism	-	OMIM:128235
478	ATP1A3	HP:0002300	Mutism	HP:0040282	ORPHA:71517
478	ATP1A3	HP:0002301	Hemiplegia	-	OMIM:614820
478	ATP1A3	HP:0003623	Neonatal onset	1/16	OMIM:619606
478	ATP1A3	HP:0002311	Incoordination	2/11	OMIM:601338
478	ATP1A3	HP:0002307	Drooling	-	OMIM:128235
478	ATP1A3	HP:0002307	Drooling	1/16	OMIM:619606
478	ATP1A3	HP:0002307	Drooling	HP:0040282	ORPHA:71517
478	ATP1A3	HP:0003621	Juvenile onset	4/18	OMIM:128235
478	ATP1A3	HP:0003621	Juvenile onset	2/10	OMIM:601338
478	ATP1A3	HP:0006852	Episodic generalized hypotonia	3/10	OMIM:601338
478	ATP1A3	HP:0006813	Focal hemiclonic seizure	1/16	OMIM:619606
478	ATP1A3	HP:0006892	Frontotemporal cerebral atrophy	2/16	OMIM:619606
478	ATP1A3	HP:0000639	Nystagmus	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0000639	Nystagmus	7/10	OMIM:601338
478	ATP1A3	HP:0000639	Nystagmus	-	OMIM:614820
478	ATP1A3	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
478	ATP1A3	HP:0000648	Optic atrophy	11/11	OMIM:601338
478	ATP1A3	HP:0000648	Optic atrophy	HP:0040281	ORPHA:1171
478	ATP1A3	HP:0000618	Blindness	2/10	OMIM:601338
478	ATP1A3	HP:0001944	Dehydration	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0012650	Perisylvian polymicrogyria	9/16	OMIM:619606
478	ATP1A3	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0004322	Short stature	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0031960	Arm dystonia	1/1	OMIM:601338
478	ATP1A3	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0004372	Reduced consciousness	1/1	OMIM:601338
478	ATP1A3	HP:0031931	Ocular flutter	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0000739	Anxiety	-	OMIM:128235
478	ATP1A3	HP:0000739	Anxiety	HP:0040283	ORPHA:71517
478	ATP1A3	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
478	ATP1A3	HP:0000716	Depression	-	OMIM:128235
478	ATP1A3	HP:0000716	Depression	HP:0040283	ORPHA:71517
478	ATP1A3	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0000717	Autism	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0000712	Emotional lability	-	OMIM:128235
478	ATP1A3	HP:0000712	Emotional lability	HP:0040283	ORPHA:71517
478	ATP1A3	HP:0000712	Emotional lability	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0000729	Autistic behavior	2/10	OMIM:601338
478	ATP1A3	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1171
478	ATP1A3	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0011499	Mydriasis	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0011463	Childhood onset	4/16	OMIM:619606
478	ATP1A3	HP:0011463	Childhood onset	1/11	OMIM:128235
478	ATP1A3	HP:0011463	Childhood onset	6/11	OMIM:601338
478	ATP1A3	HP:0011462	Young adult onset	13/18	OMIM:128235
478	ATP1A3	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
478	ATP1A3	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0003270	Abdominal distention	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0045074	Thin eyebrow	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0000980	Pallor	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0011675	Arrhythmia	HP:0040284	ORPHA:2131
478	ATP1A3	HP:0000297	Facial hypotonia	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0005135	Abnormal T-wave	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0032649	Skewfoot	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0000252	Microcephaly	8/16	OMIM:619606
478	ATP1A3	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0025517	Hypoplastic hippocampus	1/16	OMIM:619606
478	ATP1A3	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0002871	Central apnea	1/16	OMIM:619606
478	ATP1A3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
478	ATP1A3	HP:0002835	Aspiration	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0011097	Epileptic spasm	1/16	OMIM:619606
478	ATP1A3	HP:0000365	Hearing impairment	1/1	OMIM:601338
478	ATP1A3	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040281	ORPHA:2131
478	ATP1A3	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0000338	Hypomimic face	-	OMIM:128235
478	ATP1A3	HP:0000338	Hypomimic face	HP:0040282	ORPHA:71517
478	ATP1A3	HP:0032792	Tonic seizure	3/16	OMIM:619606
478	ATP1A3	HP:0000348	High forehead	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0000348	High forehead	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:2131
478	ATP1A3	HP:0007965	Undetectable visual evoked potentials	1/1	OMIM:601338
478	ATP1A3	HP:0011153	Focal motor seizure	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:601338
478	ATP1A3	HP:0000407	Sensorineural hearing impairment	10/10	OMIM:601338
478	ATP1A3	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:1171
478	ATP1A3	HP:0001716	Wolff-Parkinson-White syndrome	1/10	OMIM:601338
478	ATP1A3	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:2131
478	ATP1A3	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0000496	Abnormality of eye movement	-	OMIM:614820
478	ATP1A3	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:1171
478	ATP1A3	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0000473	Torticollis	-	OMIM:128235
478	ATP1A3	HP:0000473	Torticollis	HP:0040282	ORPHA:71517
478	ATP1A3	HP:0001761	Pes cavus	3/10	OMIM:601338
478	ATP1A3	HP:0001761	Pes cavus	HP:0040283	ORPHA:1171
478	ATP1A3	HP:0000529	Progressive visual loss	-	OMIM:601338
478	ATP1A3	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
478	ATP1A3	HP:0000505	Visual impairment	1/1	OMIM:601338
478	ATP1A3	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
478	ATP1A3	HP:0000577	Exotropia	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
478	ATP1A3	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0000572	Visual loss	-	OMIM:601338
478	ATP1A3	HP:0000565	Esotropia	HP:0040282	ORPHA:2131
478	ATP1A3	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
481	ATP1B1	HP:0001426	Non-Mendelian inheritance	-	OMIM:145500
481	ATP1B1	HP:0004972	Elevated mean arterial pressure	-	OMIM:145500
481	ATP1B1	HP:0004421	Elevated systolic blood pressure	-	OMIM:145500
481	ATP1B1	HP:0005117	Elevated diastolic blood pressure	-	OMIM:145500
486	FXYD2	HP:0001250	Seizure	-	OMIM:154020
486	FXYD2	HP:0000083	Renal insufficiency	HP:0040283	OMIM:154020
486	FXYD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:154020
486	FXYD2	HP:0003324	Generalized muscle weakness	-	OMIM:154020
486	FXYD2	HP:0005567	Renal magnesium wasting	4/4	OMIM:154020
486	FXYD2	HP:0003127	Hypocalciuria	2/4	OMIM:154020
486	FXYD2	HP:0000934	Chondrocalcinosis	-	OMIM:154020
486	FXYD2	HP:0002917	Hypomagnesemia	6/6	OMIM:154020
486	FXYD2	HP:0002900	Hypokalemia	2/6	OMIM:154020
487	ATP2A1	HP:0002486	Myotonia	0/5	OMIM:601003
487	ATP2A1	HP:0002411	Myokymia	0/5	OMIM:601003
487	ATP2A1	HP:0003712	Skeletal muscle hypertrophy	0/5	OMIM:601003
487	ATP2A1	HP:0003710	Exercise-induced muscle cramps	1/1	OMIM:601003
487	ATP2A1	HP:0001270	Motor delay	1/1	OMIM:601003
487	ATP2A1	HP:0001371	Flexion contracture	0/5	OMIM:601003
487	ATP2A1	HP:0001324	Muscle weakness	0/5	OMIM:601003
487	ATP2A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:601003
487	ATP2A1	HP:0008967	Exercise-induced muscle stiffness	10/10	OMIM:601003
487	ATP2A1	HP:0003326	Myalgia	0/5	OMIM:601003
487	ATP2A1	HP:0002047	Malignant hyperthermia	1/1	OMIM:601003
487	ATP2A1	HP:0003474	Somatic sensory dysfunction	0/5	OMIM:601003
487	ATP2A1	HP:0010548	Percussion myotonia	0/10	OMIM:601003
487	ATP2A1	HP:0002380	Fasciculations	0/5	OMIM:601003
487	ATP2A1	HP:0003623	Neonatal onset	1/1	OMIM:601003
487	ATP2A1	HP:0031826	Abnormal reflex	0/5	OMIM:601003
487	ATP2A1	HP:0009046	Difficulty running	1/5	OMIM:601003
487	ATP2A1	HP:0011463	Childhood onset	5/5	OMIM:601003
487	ATP2A1	HP:0100284	EMG: myotonic discharges	0/5	OMIM:601003
488	ATP2A2	HP:0025114	Hypergranulosis	HP:0040281	ORPHA:79151
488	ATP2A2	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:218
488	ATP2A2	HP:0007302	Bipolar affective disorder	-	OMIM:124200
488	ATP2A2	HP:0001256	Intellectual disability, mild	-	OMIM:124200
488	ATP2A2	HP:0001250	Seizure	-	OMIM:124200
488	ATP2A2	HP:0001250	Seizure	HP:0040283	ORPHA:218
488	ATP2A2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:218
488	ATP2A2	HP:0007530	Punctate palmoplantar hyperkeratosis	-	OMIM:101900
488	ATP2A2	HP:0007530	Punctate palmoplantar hyperkeratosis	HP:0040282	ORPHA:79151
488	ATP2A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:101900
488	ATP2A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:124200
488	ATP2A2	HP:0031288	Cobblestone-like hyperkeratosis	HP:0040282	ORPHA:218
488	ATP2A2	HP:0011801	Enlargement of parotid gland	-	OMIM:124200
488	ATP2A2	HP:0011859	Punctate keratitis	HP:0040283	ORPHA:218
488	ATP2A2	HP:0003577	Congenital onset	2/2	OMIM:101900
488	ATP2A2	HP:0008410	Subungual hyperkeratotic fragments	HP:0040281	ORPHA:218
488	ATP2A2	HP:0008410	Subungual hyperkeratotic fragments	-	OMIM:124200
488	ATP2A2	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:79151
488	ATP2A2	HP:0100792	Acantholysis	0/2	OMIM:101900
488	ATP2A2	HP:0100792	Acantholysis	-	ORPHA:79151
488	ATP2A2	HP:0100792	Acantholysis	-	OMIM:124200
488	ATP2A2	HP:0100753	Schizophrenia	-	OMIM:124200
488	ATP2A2	HP:0010610	Palmar pits	HP:0040282	ORPHA:218
488	ATP2A2	HP:0010610	Palmar pits	-	OMIM:124200
488	ATP2A2	HP:0010612	Plantar pits	HP:0040282	ORPHA:218
488	ATP2A2	HP:0010612	Plantar pits	-	OMIM:124200
488	ATP2A2	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:218
488	ATP2A2	HP:0001034	Hypermelanotic macule	HP:0040283	OMIM:124200
488	ATP2A2	HP:0001036	Parakeratosis	-	ORPHA:79151
488	ATP2A2	HP:0001000	Abnormality of skin pigmentation	HP:0040282	ORPHA:218
488	ATP2A2	HP:0200016	Acrokeratosis	-	OMIM:101900
488	ATP2A2	HP:0200016	Acrokeratosis	HP:0040281	ORPHA:218
488	ATP2A2	HP:0200016	Acrokeratosis	-	OMIM:124200
488	ATP2A2	HP:0025092	Epidermal acanthosis	1/1	OMIM:101900
488	ATP2A2	HP:0025092	Epidermal acanthosis	HP:0040281	ORPHA:79151
488	ATP2A2	HP:0200037	Skin vesicle	HP:0040283	ORPHA:218
488	ATP2A2	HP:0200035	Skin plaque	HP:0040282	ORPHA:79151
488	ATP2A2	HP:0001097	Keratoconjunctivitis sicca	HP:0040282	ORPHA:218
488	ATP2A2	HP:0001072	Thickened skin	HP:0040282	ORPHA:218
488	ATP2A2	HP:0200043	Verrucae	HP:0040282	ORPHA:79151
488	ATP2A2	HP:6001074	Longitudinal erythronychia	HP:0040282	ORPHA:218
488	ATP2A2	HP:6001074	Longitudinal erythronychia	-	OMIM:124200
488	ATP2A2	HP:0012733	Macule	HP:0040283	ORPHA:218
488	ATP2A2	HP:0000716	Depression	HP:0040283	ORPHA:218
488	ATP2A2	HP:0045059	Hyperkeratotic papule	HP:0040281	ORPHA:218
488	ATP2A2	HP:0000989	Pruritus	-	OMIM:124200
488	ATP2A2	HP:0000989	Pruritus	HP:0040281	ORPHA:218
488	ATP2A2	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:218
488	ATP2A2	HP:0000962	Hyperkeratosis	1/1	OMIM:101900
488	ATP2A2	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:79151
488	ATP2A2	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:218
488	ATP2A2	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:218
488	ATP2A2	HP:0025512	Skin-colored papule	HP:0040281	ORPHA:79151
488	ATP2A2	HP:0005212	Anal mucosal leukoplakia	HP:0040282	ORPHA:218
488	ATP2A2	HP:0000498	Blepharitis	HP:0040282	ORPHA:218
488	ATP2A2	HP:0001798	Anonychia	HP:0040283	ORPHA:79151
488	ATP2A2	HP:0012500	Verrucous papule	-	OMIM:101900
488	ATP2A2	HP:0001820	Leukonychia	HP:0040282	ORPHA:79151
488	ATP2A2	HP:0001808	Fragile nails	HP:0040282	ORPHA:218
488	ATP2A2	HP:0001807	Ridged nail	-	OMIM:101900
488	ATP2A2	HP:0001807	Ridged nail	-	OMIM:124200
490	ATP2B1	HP:0001166	Arachnodactyly	2/12	OMIM:619910
490	ATP2B1	HP:0033522	Cerebral cavernous malformation	1/12	OMIM:619910
490	ATP2B1	HP:0001250	Seizure	4/12	OMIM:619910
490	ATP2B1	HP:0001252	Hypotonia	2/12	OMIM:619910
490	ATP2B1	HP:0001249	Intellectual disability	12/12	OMIM:619910
490	ATP2B1	HP:0001263	Global developmental delay	12/12	OMIM:619910
490	ATP2B1	HP:0001357	Plagiocephaly	1/12	OMIM:619910
490	ATP2B1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619910
490	ATP2B1	HP:0002650	Scoliosis	2/12	OMIM:619910
490	ATP2B1	HP:0002616	Aortic root aneurysm	1/12	OMIM:619910
490	ATP2B1	HP:0003593	Infantile onset	10/12	OMIM:619910
490	ATP2B1	HP:0003577	Congenital onset	1/12	OMIM:619910
490	ATP2B1	HP:0004209	Clinodactyly of the 5th finger	1/12	OMIM:619910
490	ATP2B1	HP:0000767	Pectus excavatum	1/12	OMIM:619910
490	ATP2B1	HP:0000768	Pectus carinatum	1/12	OMIM:619910
490	ATP2B1	HP:0000729	Autistic behavior	5/10	OMIM:619910
490	ATP2B1	HP:0011463	Childhood onset	1/12	OMIM:619910
490	ATP2B1	HP:0008070	Sparse hair	1/12	OMIM:619910
490	ATP2B1	HP:0000248	Brachycephaly	1/12	OMIM:619910
490	ATP2B1	HP:0000369	Low-set ears	1/12	OMIM:619910
490	ATP2B1	HP:0001669	Transposition of the great arteries	1/12	OMIM:619910
490	ATP2B1	HP:0001684	Secundum atrial septal defect	1/12	OMIM:619910
490	ATP2B1	HP:0012469	Infantile spasms	1/12	OMIM:619910
490	ATP2B1	HP:0001863	Toe clinodactyly	1/12	OMIM:619910
491	ATP2B2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619804
491	ATP2B2	HP:0003596	Middle age onset	1/11	OMIM:619804
491	ATP2B2	HP:0003577	Congenital onset	1/11	OMIM:619804
491	ATP2B2	HP:0003621	Juvenile onset	1/11	OMIM:619804
491	ATP2B2	HP:0011463	Childhood onset	8/11	OMIM:619804
491	ATP2B2	HP:0000360	Tinnitus	2/11	OMIM:619804
491	ATP2B2	HP:0000407	Sensorineural hearing impairment	11/11	OMIM:619804
492	ATP2B3	HP:0001152	Saccadic smooth pursuit	HP:0040282	ORPHA:314978
492	ATP2B3	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:314978
492	ATP2B3	HP:0002470	Nonprogressive cerebellar ataxia	HP:0040281	ORPHA:314978
492	ATP2B3	HP:0001272	Cerebellar atrophy	2/2	OMIM:302500
492	ATP2B3	HP:0001270	Motor delay	2/2	OMIM:302500
492	ATP2B3	HP:0001270	Motor delay	HP:0040282	ORPHA:314978
492	ATP2B3	HP:0001252	Hypotonia	1/2	OMIM:302500
492	ATP2B3	HP:0001251	Ataxia	2/2	OMIM:302500
492	ATP2B3	HP:0001249	Intellectual disability	-	ORPHA:314978
492	ATP2B3	HP:0001260	Dysarthria	1/2	OMIM:302500
492	ATP2B3	HP:0001320	Cerebellar vermis hypoplasia	HP:0040282	ORPHA:314978
492	ATP2B3	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:314978
492	ATP2B3	HP:0001319	Neonatal hypotonia	-	OMIM:302500
492	ATP2B3	HP:0008935	Generalized neonatal hypotonia	HP:0040282	ORPHA:314978
492	ATP2B3	HP:0001419	X-linked recessive inheritance	-	OMIM:302500
492	ATP2B3	HP:0002015	Dysphagia	1/2	OMIM:302500
492	ATP2B3	HP:0002080	Intention tremor	HP:0040282	ORPHA:314978
492	ATP2B3	HP:0002080	Intention tremor	2/2	OMIM:302500
492	ATP2B3	HP:0002078	Truncal ataxia	HP:0040282	ORPHA:314978
492	ATP2B3	HP:0002071	Abnormality of extrapyramidal motor function	0/2	OMIM:302500
492	ATP2B3	HP:0003487	Babinski sign	-	ORPHA:314978
492	ATP2B3	HP:0003593	Infantile onset	1/2	OMIM:302500
492	ATP2B3	HP:0003577	Congenital onset	1/2	OMIM:302500
492	ATP2B3	HP:0003698	Difficulty standing	-	OMIM:302500
492	ATP2B3	HP:0002359	Frequent falls	HP:0040282	ORPHA:314978
492	ATP2B3	HP:0002345	Action tremor	2/2	OMIM:302500
492	ATP2B3	HP:0002345	Action tremor	HP:0040282	ORPHA:314978
492	ATP2B3	HP:0003680	Nonprogressive	-	OMIM:302500
492	ATP2B3	HP:0002317	Unsteady gait	HP:0040282	ORPHA:314978
492	ATP2B3	HP:0002317	Unsteady gait	2/2	OMIM:302500
492	ATP2B3	HP:0002312	Clumsiness	HP:0040282	ORPHA:314978
492	ATP2B3	HP:0003621	Juvenile onset	-	OMIM:302500
492	ATP2B3	HP:0000639	Nystagmus	-	OMIM:302500
492	ATP2B3	HP:0000486	Strabismus	-	OMIM:302500
492	ATP2B3	HP:0000486	Strabismus	HP:0040282	ORPHA:314978
492	ATP2B3	HP:0000514	Slow saccadic eye movements	1/2	OMIM:302500
498	ATP5F1A	HP:0002497	Spastic ataxia	1/3	OMIM:620358
498	ATP5F1A	HP:0002445	Tetraplegia	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0007325	Generalized dystonia	1/3	OMIM:620358
498	ATP5F1A	HP:0500149	Hyperglutamatemia	2/3	OMIM:620358
498	ATP5F1A	HP:0001298	Encephalopathy	1/2	OMIM:616045
498	ATP5F1A	HP:0001298	Encephalopathy	HP:0040282	ORPHA:254913
498	ATP5F1A	HP:0001298	Encephalopathy	2/2	OMIM:615228
498	ATP5F1A	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0001270	Motor delay	HP:0040282	ORPHA:254913
498	ATP5F1A	HP:0001285	Spastic tetraparesis	1/3	OMIM:620358
498	ATP5F1A	HP:0001254	Lethargy	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0001250	Seizure	2/2	OMIM:615228
498	ATP5F1A	HP:0001250	Seizure	1/2	OMIM:616045
498	ATP5F1A	HP:0001250	Seizure	HP:0040282	ORPHA:254913
498	ATP5F1A	HP:0001252	Hypotonia	2/2	OMIM:616045
498	ATP5F1A	HP:0001252	Hypotonia	HP:0040282	ORPHA:254913
498	ATP5F1A	HP:0001251	Ataxia	HP:0040282	ORPHA:254913
498	ATP5F1A	HP:0001249	Intellectual disability	1/3	OMIM:620358
498	ATP5F1A	HP:0001260	Dysarthria	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0001263	Global developmental delay	3/6	OMIM:620358
498	ATP5F1A	HP:0001258	Spastic paraplegia	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0003811	Neonatal death	2/2	OMIM:615228
498	ATP5F1A	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0001332	Dystonia	1/3	OMIM:620358
498	ATP5F1A	HP:0001332	Dystonia	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0001324	Muscle weakness	HP:0040282	ORPHA:254913
498	ATP5F1A	HP:0001344	Absent speech	1/3	OMIM:620358
498	ATP5F1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615228
498	ATP5F1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:616045
498	ATP5F1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:620358
498	ATP5F1A	HP:0001321	Cerebellar hypoplasia	2/2	OMIM:615228
498	ATP5F1A	HP:0000135	Hypogonadism	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0025430	High-pitched cry	2/2	OMIM:615228
498	ATP5F1A	HP:0003348	Hyperalaninemia	1/1	OMIM:616045
498	ATP5F1A	HP:0003348	Hyperalaninemia	3/3	OMIM:620358
498	ATP5F1A	HP:0003348	Hyperalaninemia	HP:0040282	ORPHA:254913
498	ATP5F1A	HP:0002028	Chronic diarrhea	2/3	OMIM:620358
498	ATP5F1A	HP:0002015	Dysphagia	1/3	OMIM:620358
498	ATP5F1A	HP:0005961	Hypoargininemia	2/3	OMIM:620358
498	ATP5F1A	HP:0002089	Pulmonary hypoplasia	2/2	OMIM:615228
498	ATP5F1A	HP:0002098	Respiratory distress	HP:0040282	ORPHA:254913
498	ATP5F1A	HP:0002092	Pulmonary arterial hypertension	1/2	OMIM:616045
498	ATP5F1A	HP:0002154	Hyperglycinemia	1/3	OMIM:620358
498	ATP5F1A	HP:0002151	Increased circulating lactate concentration	1/3	OMIM:620358
498	ATP5F1A	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0002104	Apnea	2/2	OMIM:615228
498	ATP5F1A	HP:0011924	Decreased activity of mitochondrial complex III	2/2	OMIM:616045
498	ATP5F1A	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	2/2	OMIM:615228
498	ATP5F1A	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:616045
498	ATP5F1A	HP:0003593	Infantile onset	1/1	OMIM:620358
498	ATP5F1A	HP:0003577	Congenital onset	2/2	OMIM:615228
498	ATP5F1A	HP:0003577	Congenital onset	2/2	OMIM:616045
498	ATP5F1A	HP:0003572	Low plasma citrulline	2/3	OMIM:620358
498	ATP5F1A	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0003535	3-Methylglutaconic aciduria	HP:0040282	ORPHA:254913
498	ATP5F1A	HP:0003535	3-Methylglutaconic aciduria	0/2	OMIM:615228
498	ATP5F1A	HP:0008358	Hyperprolinemia	3/3	OMIM:620358
498	ATP5F1A	HP:0008347	Decreased activity of mitochondrial complex IV	2/2	OMIM:616045
498	ATP5F1A	HP:0011968	Feeding difficulties	3/3	OMIM:620358
498	ATP5F1A	HP:0002385	Paraparesis	1/3	OMIM:620358
498	ATP5F1A	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:254913
498	ATP5F1A	HP:0003623	Neonatal onset	3/3	OMIM:620358
498	ATP5F1A	HP:0006846	Acute encephalopathy	1/3	OMIM:620358
498	ATP5F1A	HP:0000639	Nystagmus	2/2	OMIM:615228
498	ATP5F1A	HP:0000639	Nystagmus	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0000648	Optic atrophy	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0000618	Blindness	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0000602	Ophthalmoplegia	HP:0040284	ORPHA:254913
498	ATP5F1A	HP:0001903	Anemia	2/3	OMIM:620358
498	ATP5F1A	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:254913
498	ATP5F1A	HP:0001987	Hyperammonemia	3/3	OMIM:620358
498	ATP5F1A	HP:0004322	Short stature	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0100021	Cerebral palsy	1/3	OMIM:620358
498	ATP5F1A	HP:0000737	Irritability	2/2	OMIM:615228
498	ATP5F1A	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	2/2	OMIM:616045
498	ATP5F1A	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:254913
498	ATP5F1A	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:254913
498	ATP5F1A	HP:0003128	Lactic acidosis	4/6	OMIM:620358
498	ATP5F1A	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0003218	Oroticaciduria	2/2	OMIM:620358
498	ATP5F1A	HP:0011675	Arrhythmia	HP:0040282	ORPHA:254913
498	ATP5F1A	HP:0000252	Microcephaly	2/2	OMIM:616045
498	ATP5F1A	HP:0000252	Microcephaly	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0001508	Failure to thrive	1/2	OMIM:616045
498	ATP5F1A	HP:0001508	Failure to thrive	4/6	OMIM:620358
498	ATP5F1A	HP:0001511	Intrauterine growth retardation	1/2	OMIM:616045
498	ATP5F1A	HP:0032794	Myoclonic seizure	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:254913
498	ATP5F1A	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:254913
498	ATP5F1A	HP:0001635	Congestive heart failure	1/2	OMIM:616045
498	ATP5F1A	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0000486	Strabismus	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0000518	Cataract	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:254913
498	ATP5F1A	HP:0000508	Ptosis	HP:0040283	ORPHA:254913
501	ALDH7A1	HP:0025116	Fetal distress	HP:0040282	ORPHA:3006
501	ALDH7A1	HP:0025116	Fetal distress	-	OMIM:266100
501	ALDH7A1	HP:0020221	Clonic seizure	6/6	OMIM:266100
501	ALDH7A1	HP:0020217	Focal aware motor seizure	HP:0040282	ORPHA:3006
501	ALDH7A1	HP:0010851	EEG with burst suppression	4/5	OMIM:266100
501	ALDH7A1	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:3006
501	ALDH7A1	HP:0001250	Seizure	HP:0040280	ORPHA:3006
501	ALDH7A1	HP:0001252	Hypotonia	3/5	OMIM:266100
501	ALDH7A1	HP:0001249	Intellectual disability	-	OMIM:266100
501	ALDH7A1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3006
501	ALDH7A1	HP:0001263	Global developmental delay	-	OMIM:266100
501	ALDH7A1	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:3006
501	ALDH7A1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:3006
501	ALDH7A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:266100
501	ALDH7A1	HP:0002643	Neonatal respiratory distress	4/5	OMIM:266100
501	ALDH7A1	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:3006
501	ALDH7A1	HP:0030917	Low APGAR score	HP:0040282	ORPHA:3006
501	ALDH7A1	HP:0002069	Bilateral tonic-clonic seizure	6/6	OMIM:266100
501	ALDH7A1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:3006
501	ALDH7A1	HP:0002123	Generalized myoclonic seizure	-	OMIM:266100
501	ALDH7A1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:3006
501	ALDH7A1	HP:0002133	Status epilepticus	2/8	OMIM:266100
501	ALDH7A1	HP:0002133	Status epilepticus	HP:0040282	ORPHA:3006
501	ALDH7A1	HP:0002188	Delayed CNS myelination	HP:0040283	ORPHA:3006
501	ALDH7A1	HP:6000268	Elevated circulating pipecolic acid concentration	2/2	OMIM:266100
501	ALDH7A1	HP:0002280	Enlarged cisterna magna	HP:0040283	ORPHA:3006
501	ALDH7A1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:3006
501	ALDH7A1	HP:0010841	Multifocal epileptiform discharges	HP:0040283	ORPHA:3006
501	ALDH7A1	HP:0010845	EEG with generalized slow activity	HP:0040282	ORPHA:3006
501	ALDH7A1	HP:0010819	Atonic seizure	HP:0040283	ORPHA:3006
501	ALDH7A1	HP:0003623	Neonatal onset	7/7	OMIM:266100
501	ALDH7A1	HP:0001943	Hypoglycemia	HP:0040284	ORPHA:3006
501	ALDH7A1	HP:0000737	Irritability	HP:0040282	ORPHA:3006
501	ALDH7A1	HP:0000750	Delayed speech and language development	5/6	OMIM:266100
501	ALDH7A1	HP:0012704	Widened subarachnoid space	HP:0040283	ORPHA:3006
501	ALDH7A1	HP:0000711	Restlessness	HP:0040283	ORPHA:3006
501	ALDH7A1	HP:0012768	Neonatal asphyxia	HP:0040283	ORPHA:3006
501	ALDH7A1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:3006
501	ALDH7A1	HP:0003128	Lactic acidosis	HP:0040284	ORPHA:3006
501	ALDH7A1	HP:0034365	Elevated circulating alpha-aminoadipic semialdehyde concentration	-	OMIM:266100
501	ALDH7A1	HP:0000273	Facial grimacing	HP:0040283	ORPHA:3006
501	ALDH7A1	HP:0000238	Hydrocephalus	2/5	OMIM:266100
501	ALDH7A1	HP:0001557	Prenatal movement abnormality	3/4	OMIM:266100
501	ALDH7A1	HP:0001557	Prenatal movement abnormality	HP:0040282	ORPHA:3006
501	ALDH7A1	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:3006
501	ALDH7A1	HP:0011199	EEG with generalized sharp slow waves	HP:0040283	ORPHA:3006
501	ALDH7A1	HP:0011198	EEG with generalized epileptiform discharges	HP:0040283	ORPHA:3006
501	ALDH7A1	HP:0011166	Focal myoclonic seizure	HP:0040283	ORPHA:3006
501	ALDH7A1	HP:0011152	Early onset absence seizures	HP:0040282	ORPHA:3006
501	ALDH7A1	HP:0000486	Strabismus	1/2	OMIM:266100
501	ALDH7A1	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:3006
501	ALDH7A1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:3006
501	ALDH7A1	HP:0012420	Meconium stained amniotic fluid	HP:0040283	ORPHA:3006
506	ATP5F1B	HP:0010913	Hyperisoleucinemia	2/2	OMIM:620085
506	ATP5F1B	HP:0010911	Hyperleucinemia	2/2	OMIM:620085
506	ATP5F1B	HP:0010910	Hypervalinemia	2/2	OMIM:620085
506	ATP5F1B	HP:0002591	Polyphagia	2/2	OMIM:620085
506	ATP5F1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:620085
506	ATP5F1B	HP:0002789	Tachypnea	2/2	OMIM:620085
506	ATP5F1B	HP:0003593	Infantile onset	2/2	OMIM:620085
506	ATP5F1B	HP:0001954	Recurrent fever	2/2	OMIM:620085
506	ATP5F1B	HP:0011342	Mild global developmental delay	2/2	OMIM:620085
506	ATP5F1B	HP:0001987	Hyperammonemia	2/2	OMIM:620085
506	ATP5F1B	HP:0004325	Decreased body weight	2/2	OMIM:620085
506	ATP5F1B	HP:0003138	Increased blood urea nitrogen	2/2	OMIM:620085
506	ATP5F1B	HP:0001508	Failure to thrive	2/2	OMIM:620085
513	ATP5F1D	HP:0002445	Tetraplegia	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0001298	Encephalopathy	HP:0040282	ORPHA:254913
513	ATP5F1D	HP:0001298	Encephalopathy	-	OMIM:618120
513	ATP5F1D	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0001270	Motor delay	HP:0040282	ORPHA:254913
513	ATP5F1D	HP:0001254	Lethargy	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0001254	Lethargy	2/2	OMIM:618120
513	ATP5F1D	HP:0001250	Seizure	HP:0040282	ORPHA:254913
513	ATP5F1D	HP:0001252	Hypotonia	HP:0040282	ORPHA:254913
513	ATP5F1D	HP:0001251	Ataxia	HP:0040282	ORPHA:254913
513	ATP5F1D	HP:0001260	Dysarthria	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0001263	Global developmental delay	-	OMIM:618120
513	ATP5F1D	HP:0001258	Spastic paraplegia	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0001332	Dystonia	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0001324	Muscle weakness	1/2	OMIM:618120
513	ATP5F1D	HP:0001324	Muscle weakness	HP:0040282	ORPHA:254913
513	ATP5F1D	HP:0000007	Autosomal recessive inheritance	-	OMIM:618120
513	ATP5F1D	HP:0000135	Hypogonadism	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0003348	Hyperalaninemia	HP:0040282	ORPHA:254913
513	ATP5F1D	HP:0002098	Respiratory distress	HP:0040282	ORPHA:254913
513	ATP5F1D	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:618120
513	ATP5F1D	HP:0002141	Gait imbalance	1/2	OMIM:618120
513	ATP5F1D	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	2/2	OMIM:618120
513	ATP5F1D	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0003546	Exercise intolerance	2/2	OMIM:618120
513	ATP5F1D	HP:0003535	3-Methylglutaconic aciduria	HP:0040282	ORPHA:254913
513	ATP5F1D	HP:0003535	3-Methylglutaconic aciduria	2/2	OMIM:618120
513	ATP5F1D	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:254913
513	ATP5F1D	HP:0003623	Neonatal onset	1/2	OMIM:618120
513	ATP5F1D	HP:0000639	Nystagmus	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0000648	Optic atrophy	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0000618	Blindness	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0001943	Hypoglycemia	2/2	OMIM:618120
513	ATP5F1D	HP:0000602	Ophthalmoplegia	HP:0040284	ORPHA:254913
513	ATP5F1D	HP:0001993	Ketoacidosis	1/2	OMIM:618120
513	ATP5F1D	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:254913
513	ATP5F1D	HP:0001987	Hyperammonemia	2/2	OMIM:618120
513	ATP5F1D	HP:0004322	Short stature	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0004322	Short stature	1/2	OMIM:618120
513	ATP5F1D	HP:0031962	Elevated serum anion gap	1/2	OMIM:618120
513	ATP5F1D	HP:0000750	Delayed speech and language development	1/2	OMIM:618120
513	ATP5F1D	HP:0011463	Childhood onset	1/2	OMIM:618120
513	ATP5F1D	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:254913
513	ATP5F1D	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:254913
513	ATP5F1D	HP:0003128	Lactic acidosis	1/2	OMIM:618120
513	ATP5F1D	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0003236	Elevated circulating creatine kinase concentration	1/2	OMIM:618120
513	ATP5F1D	HP:0003201	Rhabdomyolysis	1/2	OMIM:618120
513	ATP5F1D	HP:0011675	Arrhythmia	HP:0040282	ORPHA:254913
513	ATP5F1D	HP:0006466	Ankle flexion contracture	1/2	OMIM:618120
513	ATP5F1D	HP:0000252	Microcephaly	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0032794	Myoclonic seizure	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:254913
513	ATP5F1D	HP:0001644	Dilated cardiomyopathy	1/2	OMIM:618120
513	ATP5F1D	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:254913
513	ATP5F1D	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0000486	Strabismus	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0000518	Cataract	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:254913
513	ATP5F1D	HP:0000508	Ptosis	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0002445	Tetraplegia	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0001298	Encephalopathy	HP:0040282	ORPHA:254913
514	ATP5F1E	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0001270	Motor delay	HP:0040282	ORPHA:254913
514	ATP5F1E	HP:0001254	Lethargy	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0001250	Seizure	HP:0040282	ORPHA:254913
514	ATP5F1E	HP:0001252	Hypotonia	HP:0040282	ORPHA:254913
514	ATP5F1E	HP:0001251	Ataxia	HP:0040282	ORPHA:254913
514	ATP5F1E	HP:0001249	Intellectual disability	-	OMIM:614053
514	ATP5F1E	HP:0001260	Dysarthria	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0001258	Spastic paraplegia	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0001332	Dystonia	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0001324	Muscle weakness	HP:0040282	ORPHA:254913
514	ATP5F1E	HP:0000007	Autosomal recessive inheritance	-	OMIM:614053
514	ATP5F1E	HP:0000135	Hypogonadism	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0003348	Hyperalaninemia	HP:0040282	ORPHA:254913
514	ATP5F1E	HP:0002098	Respiratory distress	HP:0040282	ORPHA:254913
514	ATP5F1E	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	-	OMIM:614053
514	ATP5F1E	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0003535	3-Methylglutaconic aciduria	HP:0040282	ORPHA:254913
514	ATP5F1E	HP:0003535	3-Methylglutaconic aciduria	-	OMIM:614053
514	ATP5F1E	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:254913
514	ATP5F1E	HP:0009830	Peripheral neuropathy	-	OMIM:614053
514	ATP5F1E	HP:0000639	Nystagmus	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0000648	Optic atrophy	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0000618	Blindness	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0000602	Ophthalmoplegia	HP:0040284	ORPHA:254913
514	ATP5F1E	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:254913
514	ATP5F1E	HP:0004322	Short stature	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:254913
514	ATP5F1E	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:254913
514	ATP5F1E	HP:0003128	Lactic acidosis	-	OMIM:614053
514	ATP5F1E	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0011675	Arrhythmia	HP:0040282	ORPHA:254913
514	ATP5F1E	HP:0000252	Microcephaly	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0032794	Myoclonic seizure	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:254913
514	ATP5F1E	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:254913
514	ATP5F1E	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:614053
514	ATP5F1E	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0000486	Strabismus	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0000518	Cataract	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:254913
514	ATP5F1E	HP:0000508	Ptosis	HP:0040283	ORPHA:254913
518	ATP5MC3	HP:0001288	Gait disturbance	-	OMIM:619681
518	ATP5MC3	HP:0001258	Spastic paraplegia	-	OMIM:619681
518	ATP5MC3	HP:0007340	Lower limb muscle weakness	-	OMIM:619681
518	ATP5MC3	HP:0012049	Laryngeal dystonia	-	OMIM:619681
518	ATP5MC3	HP:0001347	Hyperreflexia	-	OMIM:619681
518	ATP5MC3	HP:0001332	Dystonia	-	OMIM:619681
518	ATP5MC3	HP:0000006	Autosomal dominant inheritance	-	OMIM:619681
518	ATP5MC3	HP:0003581	Adult onset	22/40	OMIM:619681
518	ATP5MC3	HP:0011463	Childhood onset	18/40	OMIM:619681
523	ATP6V1A	HP:0002465	Poor speech	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0009933	Narrow naris	2/3	OMIM:617403
523	ATP6V1A	HP:0025167	Fragmented elastic fibers in the dermis	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0020221	Clonic seizure	1/4	OMIM:618012
523	ATP6V1A	HP:0020206	Simple ear	1/3	OMIM:617403
523	ATP6V1A	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0003758	Reduced subcutaneous adipose tissue	3/3	OMIM:617403
523	ATP6V1A	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
523	ATP6V1A	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
523	ATP6V1A	HP:0001272	Cerebellar atrophy	1/4	OMIM:618012
523	ATP6V1A	HP:0025244	Subretinal pigment epithelium hemorrhage	HP:0040282	ORPHA:357074
523	ATP6V1A	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0001270	Motor delay	1/1	OMIM:617403
523	ATP6V1A	HP:0001270	Motor delay	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0001288	Gait disturbance	-	OMIM:618012
523	ATP6V1A	HP:0001285	Spastic tetraparesis	2/4	OMIM:618012
523	ATP6V1A	HP:0001250	Seizure	2/3	OMIM:617403
523	ATP6V1A	HP:0001250	Seizure	HP:0040282	ORPHA:442835
523	ATP6V1A	HP:0001250	Seizure	HP:0040282	ORPHA:357074
523	ATP6V1A	HP:0001252	Hypotonia	3/3	OMIM:617403
523	ATP6V1A	HP:0001252	Hypotonia	2/4	OMIM:618012
523	ATP6V1A	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
523	ATP6V1A	HP:0001249	Intellectual disability	4/4	OMIM:618012
523	ATP6V1A	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
523	ATP6V1A	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
523	ATP6V1A	HP:0001263	Global developmental delay	4/4	OMIM:618012
523	ATP6V1A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0001257	Spasticity	HP:0040282	ORPHA:357074
523	ATP6V1A	HP:0025201	Abnormal circulating apolipoprotein concentration	HP:0040282	ORPHA:357074
523	ATP6V1A	HP:0100874	Thick hair	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0007392	Excessive wrinkled skin	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0008689	Bilateral cryptorchidism	2/4	OMIM:617403
523	ATP6V1A	HP:0007359	Focal-onset seizure	2/4	OMIM:618012
523	ATP6V1A	HP:0010989	Abnormality of the intrinsic pathway	HP:0040283	ORPHA:357074
523	ATP6V1A	HP:0002540	Inability to walk	2/4	OMIM:618012
523	ATP6V1A	HP:0002521	Hypsarrhythmia	-	OMIM:618012
523	ATP6V1A	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0002521	Hypsarrhythmia	1/1	OMIM:617403
523	ATP6V1A	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
523	ATP6V1A	HP:0001374	Congenital hip dislocation	HP:0040282	ORPHA:357074
523	ATP6V1A	HP:0000054	Micropenis	1/3	OMIM:617403
523	ATP6V1A	HP:0001385	Hip dysplasia	1/3	OMIM:617403
523	ATP6V1A	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:357074
523	ATP6V1A	HP:0000023	Inguinal hernia	1/3	OMIM:617403
523	ATP6V1A	HP:0001347	Hyperreflexia	-	OMIM:618012
523	ATP6V1A	HP:0000028	Cryptorchidism	1/3	OMIM:617403
523	ATP6V1A	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0007552	Abnormal subcutaneous fat tissue distribution	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0007457	Prominent veins on trunk	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0033725	Thin corpus callosum	1/3	OMIM:617403
523	ATP6V1A	HP:0001344	Absent speech	2/4	OMIM:618012
523	ATP6V1A	HP:0001339	Lissencephaly	HP:0040282	ORPHA:357074
523	ATP6V1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:617403
523	ATP6V1A	HP:0001337	Tremor	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:618012
523	ATP6V1A	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:357074
523	ATP6V1A	HP:0001302	Pachygyria	HP:0040282	ORPHA:357074
523	ATP6V1A	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:357074
523	ATP6V1A	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0001476	Delayed closure of the anterior fontanelle	HP:0040280	ORPHA:357074
523	ATP6V1A	HP:0008947	Floppy infant	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0002761	Generalized joint hypermobility	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0002751	Kyphoscoliosis	0/3	OMIM:617403
523	ATP6V1A	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0005989	Redundant neck skin	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0002097	Emphysema	-	ORPHA:357074
523	ATP6V1A	HP:0002069	Bilateral tonic-clonic seizure	4/4	OMIM:618012
523	ATP6V1A	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:618012
523	ATP6V1A	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0002059	Cerebral atrophy	1/4	OMIM:618012
523	ATP6V1A	HP:0002119	Ventriculomegaly	1/1	OMIM:617403
523	ATP6V1A	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
523	ATP6V1A	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:357074
523	ATP6V1A	HP:0003429	CNS hypomyelination	1/4	OMIM:618012
523	ATP6V1A	HP:0002187	Intellectual disability, profound	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0002171	Gliosis	1/1	OMIM:617403
523	ATP6V1A	HP:0003593	Infantile onset	3/4	OMIM:618012
523	ATP6V1A	HP:0003577	Congenital onset	3/3	OMIM:617403
523	ATP6V1A	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0002208	Coarse hair	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0200134	Epileptic encephalopathy	2/4	OMIM:618012
523	ATP6V1A	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0002361	Psychomotor deterioration	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
523	ATP6V1A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	4/4	OMIM:618012
523	ATP6V1A	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
523	ATP6V1A	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0004970	Ascending tubular aorta aneurysm	1/3	OMIM:617403
523	ATP6V1A	HP:0006891	Thick cerebral cortex	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
523	ATP6V1A	HP:0000648	Optic atrophy	1/4	OMIM:618012
523	ATP6V1A	HP:0000612	Iris coloboma	1/4	OMIM:618012
523	ATP6V1A	HP:0000621	Entropion	2/3	OMIM:617403
523	ATP6V1A	HP:0000670	Carious teeth	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0004322	Short stature	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0004322	Short stature	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0031936	Delayed ability to walk	-	OMIM:618012
523	ATP6V1A	HP:0000750	Delayed speech and language development	1/1	OMIM:617403
523	ATP6V1A	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
523	ATP6V1A	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0000717	Autism	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0000726	Dementia	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0011463	Childhood onset	1/4	OMIM:618012
523	ATP6V1A	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
523	ATP6V1A	HP:0009125	Lipodystrophy	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0003199	Decreased muscle mass	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0003196	Short nose	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0003160	Abnormal isoelectric focusing of serum transferrin	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0034392	Joint contracture	1/3	OMIM:617403
523	ATP6V1A	HP:0000973	Cutis laxa	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0000973	Cutis laxa	3/3	OMIM:617403
523	ATP6V1A	HP:0000954	Single transverse palmar crease	1/3	OMIM:617403
523	ATP6V1A	HP:0008070	Sparse hair	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0000278	Retrognathia	-	OMIM:617403
523	ATP6V1A	HP:0000298	Mask-like facies	2/3	OMIM:617403
523	ATP6V1A	HP:0000272	Malar flattening	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0002827	Hip dislocation	2/3	OMIM:617403
523	ATP6V1A	HP:0000253	Progressive microcephaly	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0000252	Microcephaly	2/3	OMIM:618012
523	ATP6V1A	HP:0001582	Redundant skin	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0001582	Redundant skin	3/3	OMIM:617403
523	ATP6V1A	HP:0000218	High palate	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0001508	Failure to thrive	1/1	OMIM:617403
523	ATP6V1A	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
523	ATP6V1A	HP:0001508	Failure to thrive	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0001519	Disproportionate tall stature	1/3	OMIM:617403
523	ATP6V1A	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0012385	Camptodactyly	1/1	OMIM:617403
523	ATP6V1A	HP:0011003	High myopia	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0000369	Low-set ears	2/3	OMIM:617403
523	ATP6V1A	HP:0000369	Low-set ears	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0000343	Long philtrum	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0032792	Tonic seizure	2/4	OMIM:618012
523	ATP6V1A	HP:0000348	High forehead	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0032794	Myoclonic seizure	1/4	OMIM:618012
523	ATP6V1A	HP:0000319	Smooth philtrum	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0000316	Hypertelorism	2/3	OMIM:617403
523	ATP6V1A	HP:0000316	Hypertelorism	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0000325	Triangular face	2/3	OMIM:617403
523	ATP6V1A	HP:0001629	Ventricular septal defect	2/3	OMIM:617403
523	ATP6V1A	HP:0001639	Hypertrophic cardiomyopathy	1/3	OMIM:617403
523	ATP6V1A	HP:0001635	Congestive heart failure	1/3	OMIM:617403
523	ATP6V1A	HP:0001631	Atrial septal defect	1/3	OMIM:617403
523	ATP6V1A	HP:0006687	Aortic tortuosity	1/3	OMIM:617403
523	ATP6V1A	HP:0000400	Macrotia	1/1	OMIM:617403
523	ATP6V1A	HP:0005272	Prominent nasolabial fold	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0000486	Strabismus	HP:0040282	ORPHA:357074
523	ATP6V1A	HP:0012469	Infantile spasms	2/4	OMIM:618012
523	ATP6V1A	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0000494	Downslanted palpebral fissures	1/3	OMIM:617403
523	ATP6V1A	HP:0000463	Anteverted nares	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0000455	Broad nasal tip	HP:0040281	ORPHA:357074
523	ATP6V1A	HP:0000414	Bulbous nose	1/1	OMIM:617403
523	ATP6V1A	HP:0000411	Protruding ear	-	OMIM:617403
523	ATP6V1A	HP:0001762	Talipes equinovarus	1/3	OMIM:617403
523	ATP6V1A	HP:0000431	Wide nasal bridge	2/3	OMIM:617403
523	ATP6V1A	HP:0000518	Cataract	1/3	OMIM:617403
523	ATP6V1A	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
523	ATP6V1A	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
523	ATP6V1A	HP:0000581	Blepharophimosis	1/3	OMIM:617403
523	ATP6V1A	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
523	ATP6V1A	HP:0000540	Hypermetropia	-	OMIM:618012
523	ATP6V1A	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
525	ATP6V1B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:267300
525	ATP6V1B1	HP:0001947	Renal tubular acidosis	-	OMIM:267300
525	ATP6V1B1	HP:0000787	Nephrolithiasis	-	OMIM:267300
525	ATP6V1B1	HP:0000407	Sensorineural hearing impairment	-	OMIM:267300
526	ATP6V1B2	HP:0001156	Brachydactyly	-	OMIM:124480
526	ATP6V1B2	HP:0001167	Abnormal finger morphology	HP:0040281	ORPHA:79500
526	ATP6V1B2	HP:0002465	Poor speech	HP:0040283	ORPHA:79499
526	ATP6V1B2	HP:0008619	Bilateral sensorineural hearing impairment	1/1	OMIM:124480
526	ATP6V1B2	HP:0008625	Severe sensorineural hearing impairment	HP:0040281	ORPHA:79499
526	ATP6V1B2	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0001199	Triphalangeal thumb	HP:0040283	OMIM:124480
526	ATP6V1B2	HP:0001199	Triphalangeal thumb	HP:0040282	ORPHA:79499
526	ATP6V1B2	HP:0009894	Thickened ears	HP:0040282	ORPHA:3473
526	ATP6V1B2	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0001290	Generalized hypotonia	1/2	OMIM:616455
526	ATP6V1B2	HP:0001250	Seizure	HP:0040283	ORPHA:79499
526	ATP6V1B2	HP:0001250	Seizure	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0001252	Hypotonia	2/2	OMIM:616455
526	ATP6V1B2	HP:0001249	Intellectual disability	2/2	OMIM:616455
526	ATP6V1B2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:79499
526	ATP6V1B2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:3473
526	ATP6V1B2	HP:0001249	Intellectual disability	0/3	OMIM:124480
526	ATP6V1B2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0001263	Global developmental delay	2/2	OMIM:616455
526	ATP6V1B2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:79500
526	ATP6V1B2	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:79500
526	ATP6V1B2	HP:0007440	Generalized hyperpigmentation	HP:0040284	ORPHA:3473
526	ATP6V1B2	HP:0000062	Ambiguous genitalia	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:3473
526	ATP6V1B2	HP:0007529	Hidrotic ectodermal dysplasia	-	OMIM:124480
526	ATP6V1B2	HP:0006191	Deep palmar crease	HP:0040284	ORPHA:3473
526	ATP6V1B2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616455
526	ATP6V1B2	HP:0000006	Autosomal dominant inheritance	-	OMIM:124480
526	ATP6V1B2	HP:0001336	Myoclonus	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0001305	Dandy-Walker malformation	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0000187	Broad alveolar ridges	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0000189	Narrow palate	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0000179	Thick lower lip vermilion	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0000194	Open mouth	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0000193	Bifid uvula	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:79499
526	ATP6V1B2	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0000158	Macroglossia	1/2	OMIM:616455
526	ATP6V1B2	HP:0000158	Macroglossia	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0001488	Bilateral ptosis	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0000175	Cleft palate	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0000175	Cleft palate	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0000169	Gingival fibromatosis	HP:0040280	ORPHA:3473
526	ATP6V1B2	HP:0000154	Wide mouth	HP:0040282	ORPHA:3473
526	ATP6V1B2	HP:0008947	Floppy infant	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0008947	Floppy infant	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0031282	Malalignment of the great toenail	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0000126	Hydronephrosis	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0002033	Poor suck	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0002002	Deep philtrum	1/2	OMIM:616455
526	ATP6V1B2	HP:0002007	Frontal bossing	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0004626	Lumbar scoliosis	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0002098	Respiratory distress	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0008110	Equinovarus deformity	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0010497	Sirenomelia	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0002139	Arrhinencephaly	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0002126	Polymicrogyria	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0008221	Adrenal hyperplasia	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0002265	Large fleshy ears	HP:0040282	ORPHA:3473
526	ATP6V1B2	HP:0003593	Infantile onset	2/2	OMIM:616455
526	ATP6V1B2	HP:0003577	Congenital onset	3/3	OMIM:124480
526	ATP6V1B2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0002219	Facial hypertrichosis	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0200104	Absent fifth fingernail	3/3	OMIM:124480
526	ATP6V1B2	HP:0200104	Absent fifth fingernail	HP:0040283	ORPHA:79499
526	ATP6V1B2	HP:0200141	Small, conical teeth	HP:0040283	ORPHA:79499
526	ATP6V1B2	HP:0008404	Nail dystrophy	3/3	OMIM:124480
526	ATP6V1B2	HP:0100797	Toenail dysplasia	HP:0040281	ORPHA:79500
526	ATP6V1B2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0008386	Aplasia/Hypoplasia of the nails	HP:0040282	ORPHA:79499
526	ATP6V1B2	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:79500
526	ATP6V1B2	HP:0001057	Aplasia cutis congenita	HP:0040283	ORPHA:79499
526	ATP6V1B2	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0001007	Hirsutism	1/2	OMIM:616455
526	ATP6V1B2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:79500
526	ATP6V1B2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0009778	Short thumb	HP:0040283	ORPHA:79499
526	ATP6V1B2	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0000696	Delayed eruption of permanent teeth	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0000698	Conical tooth	HP:0040283	OMIM:124480
526	ATP6V1B2	HP:0000675	Macrodontia of permanent maxillary central incisor	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0000677	Oligodontia	HP:0040282	ORPHA:79499
526	ATP6V1B2	HP:0011326	Anterior plagiocephaly	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0000687	Widely spaced teeth	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0000668	Hypodontia	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:79499
526	ATP6V1B2	HP:0000664	Synophrys	1/2	OMIM:616455
526	ATP6V1B2	HP:0004322	Short stature	1/2	OMIM:616455
526	ATP6V1B2	HP:0006934	Congenital nystagmus	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0009102	Anterior open-bite malocclusion	HP:0040282	ORPHA:3473
526	ATP6V1B2	HP:0011409	Abnormal placental membrane morphology	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0012725	Cutaneous syndactyly	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0000729	Autistic behavior	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0009162	Absent middle phalanx of 5th finger	3/3	OMIM:124480
526	ATP6V1B2	HP:0004442	Sagittal craniosynostosis	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0005707	Bilateral triphalangeal thumbs	1/1	OMIM:124480
526	ATP6V1B2	HP:0000878	11 pairs of ribs	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0000851	Congenital hypothyroidism	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0012810	Wide nasal base	HP:0040281	ORPHA:79500
526	ATP6V1B2	HP:0000811	Abnormal external genitalia morphology	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0009237	Short 5th finger	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0004554	Generalized hypertrichosis	HP:0040282	ORPHA:3473
526	ATP6V1B2	HP:0003298	Spina bifida occulta	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0000998	Hypertrichosis	1/2	OMIM:616455
526	ATP6V1B2	HP:0000977	Soft skin	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0010347	Aplasia/Hypoplasia of the phalanges of the 2nd toe	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0000286	Epicanthus	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0000280	Coarse facial features	1/2	OMIM:616455
526	ATP6V1B2	HP:0000280	Coarse facial features	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0001592	Selective tooth agenesis	HP:0040283	OMIM:124480
526	ATP6V1B2	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:79499
526	ATP6V1B2	HP:0000269	Prominent occiput	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0002808	Kyphosis	1/2	OMIM:616455
526	ATP6V1B2	HP:0006391	Overtubulated long bones	HP:0040284	ORPHA:3473
526	ATP6V1B2	HP:0000252	Microcephaly	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0000248	Brachycephaly	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0000218	High palate	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0000218	High palate	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0000212	Gingival overgrowth	2/2	OMIM:616455
526	ATP6V1B2	HP:0000212	Gingival overgrowth	HP:0040281	ORPHA:79500
526	ATP6V1B2	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0000200	Short lingual frenulum	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0001510	Growth delay	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0002937	Hemivertebrae	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0031423	Small cerebellar cortex	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0000369	Low-set ears	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0000343	Long philtrum	HP:0040281	ORPHA:79500
526	ATP6V1B2	HP:0000349	Widow's peak	1/2	OMIM:616455
526	ATP6V1B2	HP:0000348	High forehead	HP:0040283	ORPHA:79499
526	ATP6V1B2	HP:0000348	High forehead	1/1	OMIM:124480
526	ATP6V1B2	HP:0000347	Micrognathia	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0005306	Capillary hemangioma	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0005322	Prominent nasal septum	1/2	OMIM:616455
526	ATP6V1B2	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:3473
526	ATP6V1B2	HP:0000407	Sensorineural hearing impairment	3/3	OMIM:124480
526	ATP6V1B2	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:616455
526	ATP6V1B2	HP:0001719	Double outlet right ventricle	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0000486	Strabismus	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0012471	Thick vermilion border	1/2	OMIM:616455
526	ATP6V1B2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0001792	Small nail	1/1	OMIM:124480
526	ATP6V1B2	HP:0000463	Anteverted nares	HP:0040281	ORPHA:79500
526	ATP6V1B2	HP:0000455	Broad nasal tip	HP:0040283	ORPHA:79500
526	ATP6V1B2	HP:0000456	Bifid nasal tip	2/2	OMIM:616455
526	ATP6V1B2	HP:0000474	Thickened nuchal skin fold	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0000470	Short neck	1/2	OMIM:616455
526	ATP6V1B2	HP:0000470	Short neck	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0001798	Anonychia	2/2	OMIM:616455
526	ATP6V1B2	HP:0001770	Toe syndactyly	-	OMIM:124480
526	ATP6V1B2	HP:0001763	Pes planus	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0001763	Pes planus	HP:0040283	ORPHA:79499
526	ATP6V1B2	HP:0001780	Abnormal toe morphology	HP:0040281	ORPHA:79500
526	ATP6V1B2	HP:0000445	Wide nose	HP:0040282	ORPHA:3473
526	ATP6V1B2	HP:0012402	Increased urine alpha-ketoglutarate concentration	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0000414	Bulbous nose	HP:0040282	ORPHA:3473
526	ATP6V1B2	HP:0000414	Bulbous nose	HP:0040282	ORPHA:79500
526	ATP6V1B2	HP:0000413	Atresia of the external auditory canal	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0001744	Splenomegaly	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:79500
526	ATP6V1B2	HP:0000430	Underdeveloped nasal alae	1/2	OMIM:616455
526	ATP6V1B2	HP:0001761	Pes cavus	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0000518	Cataract	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0000518	Cataract	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0000527	Long eyelashes	1/2	OMIM:616455
526	ATP6V1B2	HP:0000527	Long eyelashes	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0001822	Hallux valgus	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0000506	Telecanthus	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0001804	Hypoplastic fingernail	HP:0040282	ORPHA:3473
526	ATP6V1B2	HP:0001800	Hypoplastic toenails	HP:0040283	ORPHA:79499
526	ATP6V1B2	HP:0001802	Absent toenail	1/1	OMIM:124480
526	ATP6V1B2	HP:0001802	Absent toenail	HP:0040282	ORPHA:79499
526	ATP6V1B2	HP:0001817	Absent fingernail	HP:0040282	ORPHA:3473
526	ATP6V1B2	HP:0001817	Absent fingernail	HP:0040281	ORPHA:79499
526	ATP6V1B2	HP:0001817	Absent fingernail	HP:0040281	ORPHA:79500
526	ATP6V1B2	HP:0012554	Absent thumbnail	1/1	OMIM:124480
526	ATP6V1B2	HP:0012554	Absent thumbnail	HP:0040283	ORPHA:79499
526	ATP6V1B2	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:79500
526	ATP6V1B2	HP:0000574	Thick eyebrow	1/2	OMIM:616455
526	ATP6V1B2	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:3473
526	ATP6V1B2	HP:0001869	Deep plantar creases	HP:0040284	ORPHA:3473
526	ATP6V1B2	HP:0000545	Myopia	HP:0040283	ORPHA:79500
527	ATP6V0C	HP:0010864	Intellectual disability, severe	4/4	OMIM:620465
527	ATP6V0C	HP:0001256	Intellectual disability, mild	4/4	OMIM:620465
527	ATP6V0C	HP:0001249	Intellectual disability	2/2	OMIM:620465
527	ATP6V0C	HP:0001263	Global developmental delay	21/23	OMIM:620465
527	ATP6V0C	HP:0007359	Focal-onset seizure	4/4	OMIM:620465
527	ATP6V0C	HP:0007334	Bilateral tonic-clonic seizure with focal onset	2/2	OMIM:620465
527	ATP6V0C	HP:0031165	Multifocal seizures	1/1	OMIM:620465
527	ATP6V0C	HP:0001344	Absent speech	4/4	OMIM:620465
527	ATP6V0C	HP:0000006	Autosomal dominant inheritance	-	OMIM:620465
527	ATP6V0C	HP:0002069	Bilateral tonic-clonic seizure	13/13	OMIM:620465
527	ATP6V0C	HP:0002121	Generalized non-motor (absence) seizure	6/6	OMIM:620465
527	ATP6V0C	HP:0002187	Intellectual disability, profound	4/4	OMIM:620465
527	ATP6V0C	HP:0003593	Infantile onset	8/18	OMIM:620465
527	ATP6V0C	HP:0002384	Focal impaired awareness seizure	2/2	OMIM:620465
527	ATP6V0C	HP:0002376	Developmental regression	1/1	OMIM:620465
527	ATP6V0C	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	4/4	OMIM:620465
527	ATP6V0C	HP:0002342	Intellectual disability, moderate	1/1	OMIM:620465
527	ATP6V0C	HP:0010819	Atonic seizure	6/6	OMIM:620465
527	ATP6V0C	HP:0003621	Juvenile onset	2/18	OMIM:620465
527	ATP6V0C	HP:0000750	Delayed speech and language development	2/2	OMIM:620465
527	ATP6V0C	HP:0011463	Childhood onset	8/18	OMIM:620465
527	ATP6V0C	HP:0032792	Tonic seizure	4/4	OMIM:620465
527	ATP6V0C	HP:0032794	Myoclonic seizure	5/5	OMIM:620465
527	ATP6V0C	HP:0012469	Infantile spasms	3/3	OMIM:620465
529	ATP6V1E1	HP:0001188	Hand clenching	-	OMIM:617402
529	ATP6V1E1	HP:0002465	Poor speech	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0009933	Narrow naris	-	OMIM:617402
529	ATP6V1E1	HP:0025167	Fragmented elastic fibers in the dermis	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:617402
529	ATP6V1E1	HP:0025244	Subretinal pigment epithelium hemorrhage	HP:0040282	ORPHA:357074
529	ATP6V1E1	HP:0001270	Motor delay	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0001250	Seizure	HP:0040282	ORPHA:357074
529	ATP6V1E1	HP:0001252	Hypotonia	3/3	OMIM:617402
529	ATP6V1E1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0001257	Spasticity	HP:0040282	ORPHA:357074
529	ATP6V1E1	HP:0025201	Abnormal circulating apolipoprotein concentration	HP:0040282	ORPHA:357074
529	ATP6V1E1	HP:0100874	Thick hair	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0007392	Excessive wrinkled skin	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0008689	Bilateral cryptorchidism	-	OMIM:617402
529	ATP6V1E1	HP:0010989	Abnormality of the intrinsic pathway	HP:0040283	ORPHA:357074
529	ATP6V1E1	HP:0001374	Congenital hip dislocation	HP:0040282	ORPHA:357074
529	ATP6V1E1	HP:0000054	Micropenis	1/2	OMIM:617402
529	ATP6V1E1	HP:0001385	Hip dysplasia	2/3	OMIM:617402
529	ATP6V1E1	HP:0001382	Joint hypermobility	-	OMIM:617402
529	ATP6V1E1	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:357074
529	ATP6V1E1	HP:0000028	Cryptorchidism	1/1	OMIM:617402
529	ATP6V1E1	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0007552	Abnormal subcutaneous fat tissue distribution	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0007457	Prominent veins on trunk	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0001324	Muscle weakness	1/2	OMIM:617402
529	ATP6V1E1	HP:0001339	Lissencephaly	HP:0040282	ORPHA:357074
529	ATP6V1E1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617402
529	ATP6V1E1	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:357074
529	ATP6V1E1	HP:0001302	Pachygyria	HP:0040282	ORPHA:357074
529	ATP6V1E1	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:357074
529	ATP6V1E1	HP:0000160	Narrow mouth	1/2	OMIM:617402
529	ATP6V1E1	HP:0001476	Delayed closure of the anterior fontanelle	HP:0040280	ORPHA:357074
529	ATP6V1E1	HP:0008947	Floppy infant	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0000121	Nephrocalcinosis	1/2	OMIM:617402
529	ATP6V1E1	HP:0002761	Generalized joint hypermobility	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0002751	Kyphoscoliosis	2/4	OMIM:617402
529	ATP6V1E1	HP:0002021	Pyloric stenosis	1/2	OMIM:617402
529	ATP6V1E1	HP:0005989	Redundant neck skin	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0002097	Emphysema	-	ORPHA:357074
529	ATP6V1E1	HP:0003391	Gowers sign	1/2	OMIM:617402
529	ATP6V1E1	HP:0011712	Complete right bundle branch block	-	OMIM:617402
529	ATP6V1E1	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:357074
529	ATP6V1E1	HP:0002108	Spontaneous pneumothorax	2/3	OMIM:617402
529	ATP6V1E1	HP:0002187	Intellectual disability, profound	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0003577	Congenital onset	6/6	OMIM:617402
529	ATP6V1E1	HP:0002208	Coarse hair	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0200128	Biventricular hypertrophy	-	OMIM:617402
529	ATP6V1E1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0002361	Psychomotor deterioration	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0001015	Prominent superficial veins	2/2	OMIM:617402
529	ATP6V1E1	HP:0010761	Broad columella	-	OMIM:617402
529	ATP6V1E1	HP:0009099	Median cleft palate	2/2	OMIM:617402
529	ATP6V1E1	HP:0006891	Thick cerebral cortex	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0000639	Nystagmus	-	OMIM:617402
529	ATP6V1E1	HP:0000629	Periorbital fullness	2/2	OMIM:617402
529	ATP6V1E1	HP:0000621	Entropion	6/6	OMIM:617402
529	ATP6V1E1	HP:0000678	Dental crowding	2/2	OMIM:617402
529	ATP6V1E1	HP:0000670	Carious teeth	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0004325	Decreased body weight	-	OMIM:617402
529	ATP6V1E1	HP:0004322	Short stature	-	OMIM:617402
529	ATP6V1E1	HP:0004322	Short stature	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0012727	Thoracic aortic aneurysm	1/4	OMIM:617402
529	ATP6V1E1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0000726	Dementia	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0009125	Lipodystrophy	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0003199	Decreased muscle mass	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0003196	Short nose	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0034273	Premature sagging cheeks	2/2	OMIM:617402
529	ATP6V1E1	HP:0003160	Abnormal isoelectric focusing of serum transferrin	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0012810	Wide nasal base	4/4	OMIM:617402
529	ATP6V1E1	HP:0034392	Joint contracture	1/4	OMIM:617402
529	ATP6V1E1	HP:0011648	Patent ductus arteriosus after birth at term	1/2	OMIM:617402
529	ATP6V1E1	HP:0000973	Cutis laxa	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0000973	Cutis laxa	5/6	OMIM:617402
529	ATP6V1E1	HP:0008070	Sparse hair	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0000272	Malar flattening	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0000272	Malar flattening	1/2	OMIM:617402
529	ATP6V1E1	HP:0006380	Knee flexion contracture	-	OMIM:617402
529	ATP6V1E1	HP:0000253	Progressive microcephaly	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0001582	Redundant skin	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0000218	High palate	-	OMIM:617402
529	ATP6V1E1	HP:0000218	High palate	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0001562	Oligohydramnios	1/2	OMIM:617402
529	ATP6V1E1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0001519	Disproportionate tall stature	2/4	OMIM:617402
529	ATP6V1E1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0012385	Camptodactyly	1/2	OMIM:617402
529	ATP6V1E1	HP:0001601	Laryngomalacia	-	OMIM:617402
529	ATP6V1E1	HP:0005180	Tricuspid regurgitation	1/2	OMIM:617402
529	ATP6V1E1	HP:0011003	High myopia	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0000369	Low-set ears	4/4	OMIM:617402
529	ATP6V1E1	HP:0000369	Low-set ears	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0000343	Long philtrum	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0000343	Long philtrum	2/2	OMIM:617402
529	ATP6V1E1	HP:0000350	Small forehead	6/6	OMIM:617402
529	ATP6V1E1	HP:0012301	Type II transferrin isoform profile	2/2	OMIM:617402
529	ATP6V1E1	HP:0000319	Smooth philtrum	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0000316	Hypertelorism	5/6	OMIM:617402
529	ATP6V1E1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0000327	Hypoplasia of the maxilla	1/2	OMIM:617402
529	ATP6V1E1	HP:0001659	Aortic regurgitation	-	OMIM:617402
529	ATP6V1E1	HP:0000325	Triangular face	4/4	OMIM:617402
529	ATP6V1E1	HP:0001655	Patent foramen ovale	1/2	OMIM:617402
529	ATP6V1E1	HP:0000307	Pointed chin	4/4	OMIM:617402
529	ATP6V1E1	HP:0001631	Atrial septal defect	-	OMIM:617402
529	ATP6V1E1	HP:0000303	Mandibular prognathia	1/2	OMIM:617402
529	ATP6V1E1	HP:0001634	Mitral valve prolapse	-	OMIM:617402
529	ATP6V1E1	HP:0005272	Prominent nasolabial fold	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0000486	Strabismus	2/2	OMIM:617402
529	ATP6V1E1	HP:0000486	Strabismus	HP:0040282	ORPHA:357074
529	ATP6V1E1	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0000463	Anteverted nares	2/2	OMIM:617402
529	ATP6V1E1	HP:0011120	Concave nasal ridge	1/2	OMIM:617402
529	ATP6V1E1	HP:0000455	Broad nasal tip	HP:0040281	ORPHA:357074
529	ATP6V1E1	HP:0000455	Broad nasal tip	-	OMIM:617402
529	ATP6V1E1	HP:0001763	Pes planus	-	OMIM:617402
529	ATP6V1E1	HP:0000444	Convex nasal ridge	6/6	OMIM:617402
529	ATP6V1E1	HP:0001762	Talipes equinovarus	-	OMIM:617402
529	ATP6V1E1	HP:0001845	Overlapping toe	2/2	OMIM:617402
529	ATP6V1E1	HP:0000581	Blepharophimosis	2/2	OMIM:617402
535	ATP6V0A1	HP:0020221	Clonic seizure	1/2	OMIM:619970
535	ATP6V0A1	HP:0010851	EEG with burst suppression	1/2	OMIM:619971
535	ATP6V0A1	HP:0001272	Cerebellar atrophy	1/2	OMIM:619971
535	ATP6V0A1	HP:0001250	Seizure	7/7	OMIM:619971
535	ATP6V0A1	HP:0001250	Seizure	2/2	OMIM:619970
535	ATP6V0A1	HP:0001251	Ataxia	5/5	OMIM:619971
535	ATP6V0A1	HP:0001249	Intellectual disability	5/5	OMIM:619971
535	ATP6V0A1	HP:0001249	Intellectual disability	2/2	OMIM:619970
535	ATP6V0A1	HP:0001263	Global developmental delay	2/2	OMIM:619971
535	ATP6V0A1	HP:0001263	Global developmental delay	2/2	OMIM:619970
535	ATP6V0A1	HP:0007366	Atrophy/Degeneration affecting the brainstem	1/2	OMIM:619971
535	ATP6V0A1	HP:0002539	Cortical dysplasia	1/2	OMIM:619971
535	ATP6V0A1	HP:0002521	Hypsarrhythmia	1/2	OMIM:619970
535	ATP6V0A1	HP:0002510	Spastic tetraplegia	1/2	OMIM:619971
535	ATP6V0A1	HP:0025357	Erratic myoclonus	1/2	OMIM:619971
535	ATP6V0A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619971
535	ATP6V0A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619970
535	ATP6V0A1	HP:0001336	Myoclonus	5/5	OMIM:619971
535	ATP6V0A1	HP:0001321	Cerebellar hypoplasia	1/2	OMIM:619971
535	ATP6V0A1	HP:0002020	Gastroesophageal reflux	1/2	OMIM:619971
535	ATP6V0A1	HP:0002033	Poor suck	1/2	OMIM:619970
535	ATP6V0A1	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:619970
535	ATP6V0A1	HP:0002100	Recurrent aspiration pneumonia	1/2	OMIM:619971
535	ATP6V0A1	HP:0003593	Infantile onset	1/2	OMIM:619971
535	ATP6V0A1	HP:0003593	Infantile onset	2/2	OMIM:619970
535	ATP6V0A1	HP:0002254	Intermittent diarrhea	1/2	OMIM:619971
535	ATP6V0A1	HP:0100716	Self-injurious behavior	1/2	OMIM:619970
535	ATP6V0A1	HP:0007018	Attention deficit hyperactivity disorder	1/2	OMIM:619971
535	ATP6V0A1	HP:0011968	Feeding difficulties	1/2	OMIM:619971
535	ATP6V0A1	HP:0002384	Focal impaired awareness seizure	2/2	OMIM:619970
535	ATP6V0A1	HP:0003623	Neonatal onset	1/2	OMIM:619971
535	ATP6V0A1	HP:0003621	Juvenile onset	4/5	OMIM:619971
535	ATP6V0A1	HP:0004395	Malnutrition	1/2	OMIM:619971
535	ATP6V0A1	HP:0031936	Delayed ability to walk	2/2	OMIM:619970
535	ATP6V0A1	HP:0000752	Hyperactivity	1/2	OMIM:619970
535	ATP6V0A1	HP:0000750	Delayed speech and language development	2/2	OMIM:619970
535	ATP6V0A1	HP:0000713	Agitation	1/2	OMIM:619970
535	ATP6V0A1	HP:0000729	Autistic behavior	1/2	OMIM:619970
535	ATP6V0A1	HP:0011462	Young adult onset	1/5	OMIM:619971
535	ATP6V0A1	HP:0000939	Osteoporosis	1/2	OMIM:619971
535	ATP6V0A1	HP:0001561	Polyhydramnios	1/2	OMIM:619971
535	ATP6V0A1	HP:0011097	Epileptic spasm	1/2	OMIM:619971
535	ATP6V0A1	HP:0011097	Epileptic spasm	1/2	OMIM:619970
535	ATP6V0A1	HP:0032792	Tonic seizure	1/2	OMIM:619970
535	ATP6V0A1	HP:0000303	Mandibular prognathia	4/4	OMIM:619971
535	ATP6V0A1	HP:0032989	Delayed ability to roll over	1/2	OMIM:619970
535	ATP6V0A1	HP:0000505	Visual impairment	1/2	OMIM:619970
537	ATP6AP1	HP:0001256	Intellectual disability, mild	6/11	OMIM:300972
537	ATP6AP1	HP:0001250	Seizure	6/11	OMIM:300972
537	ATP6AP1	HP:0001252	Hypotonia	1/1	OMIM:300972
537	ATP6AP1	HP:0001263	Global developmental delay	1/1	OMIM:300972
537	ATP6AP1	HP:0001397	Hepatic steatosis	5/10	OMIM:300972
537	ATP6AP1	HP:0001396	Cholestasis	2/2	OMIM:300972
537	ATP6AP1	HP:0001395	Hepatic fibrosis	1/2	OMIM:300972
537	ATP6AP1	HP:0001394	Cirrhosis	6/8	OMIM:300972
537	ATP6AP1	HP:0001382	Joint hypermobility	1/1	OMIM:300972
537	ATP6AP1	HP:0001419	X-linked recessive inheritance	-	OMIM:300972
537	ATP6AP1	HP:0002719	Recurrent infections	1/3	OMIM:300972
537	ATP6AP1	HP:0002718	Recurrent bacterial infections	11/11	OMIM:300972
537	ATP6AP1	HP:0002028	Chronic diarrhea	1/1	OMIM:300972
537	ATP6AP1	HP:0003460	Decreased circulating total IgA	5/9	OMIM:300972
537	ATP6AP1	HP:0003593	Infantile onset	6/10	OMIM:300972
537	ATP6AP1	HP:0002240	Hepatomegaly	11/14	OMIM:300972
537	ATP6AP1	HP:0100702	Arachnoid cyst	1/1	OMIM:300972
537	ATP6AP1	HP:0011967	Decreased circulating copper concentration	12/12	OMIM:300972
537	ATP6AP1	HP:0032132	Decreased circulating total IgG concentration	1/1	OMIM:300972
537	ATP6AP1	HP:0032134	Chronic decreased circulating total IgG	9/10	OMIM:300972
537	ATP6AP1	HP:0003623	Neonatal onset	3/10	OMIM:300972
537	ATP6AP1	HP:0000601	Hypotelorism	1/1	OMIM:300972
537	ATP6AP1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:300972
537	ATP6AP1	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:300972
537	ATP6AP1	HP:0004313	Decreased circulating immunoglobulin concentration	11/13	OMIM:300972
537	ATP6AP1	HP:0011463	Childhood onset	1/10	OMIM:300972
537	ATP6AP1	HP:0003124	Hypercholesterolemia	1/1	OMIM:300972
537	ATP6AP1	HP:0012852	Hepatic bridging fibrosis	1/8	OMIM:300972
537	ATP6AP1	HP:0000973	Cutis laxa	3/3	OMIM:300972
537	ATP6AP1	HP:0001522	Death in infancy	2/2	OMIM:300972
537	ATP6AP1	HP:0001508	Failure to thrive	1/1	OMIM:300972
537	ATP6AP1	HP:0002850	Decreased circulating total IgM	5/8	OMIM:300972
537	ATP6AP1	HP:0012358	Abnormal protein O-linked glycosylation	11/13	OMIM:300972
537	ATP6AP1	HP:0006579	Prolonged neonatal jaundice	2/2	OMIM:300972
537	ATP6AP1	HP:0002910	Elevated circulating hepatic transaminase concentration	13/13	OMIM:300972
537	ATP6AP1	HP:0005180	Tricuspid regurgitation	1/1	OMIM:300972
537	ATP6AP1	HP:0012347	Abnormal protein N-linked glycosylation	13/13	OMIM:300972
537	ATP6AP1	HP:0000348	High forehead	1/1	OMIM:300972
537	ATP6AP1	HP:0012301	Type II transferrin isoform profile	1/1	OMIM:300972
537	ATP6AP1	HP:0001738	Exocrine pancreatic insufficiency	1/1	OMIM:300972
537	ATP6AP1	HP:0000407	Sensorineural hearing impairment	3/11	OMIM:300972
537	ATP6AP1	HP:0001747	Accessory spleen	1/1	OMIM:300972
537	ATP6AP1	HP:0001744	Splenomegaly	8/14	OMIM:300972
537	ATP6AP1	HP:0001897	Normocytic anemia	1/1	OMIM:300972
537	ATP6AP1	HP:0000540	Hypermetropia	3/11	OMIM:300972
537	ATP6AP1	HP:0001882	Decreased total leukocyte count	6/11	OMIM:300972
537	ATP6AP1	HP:0001873	Thrombocytopenia	1/1	OMIM:300972
538	ATP7A	HP:0001156	Brachydactyly	HP:0040282	ORPHA:198
538	ATP7A	HP:0002460	Distal muscle weakness	-	OMIM:300489
538	ATP7A	HP:0003777	Pili torti	4/4	OMIM:304150
538	ATP7A	HP:0007269	Spinal muscular atrophy	-	OMIM:300489
538	ATP7A	HP:0002421	Poor head control	1/1	OMIM:309400
538	ATP7A	HP:0100806	Sepsis	HP:0040283	ORPHA:388
538	ATP7A	HP:0100806	Sepsis	HP:0040283	ORPHA:565
538	ATP7A	HP:0001276	Hypertonia	HP:0040281	ORPHA:565
538	ATP7A	HP:0001276	Hypertonia	-	OMIM:309400
538	ATP7A	HP:0001278	Orthostatic hypotension	-	OMIM:304150
538	ATP7A	HP:0001250	Seizure	HP:0040281	ORPHA:565
538	ATP7A	HP:0001250	Seizure	3/4	OMIM:304150
538	ATP7A	HP:0001250	Seizure	1/1	OMIM:309400
538	ATP7A	HP:0001252	Hypotonia	HP:0040281	ORPHA:565
538	ATP7A	HP:0001252	Hypotonia	HP:0040282	ORPHA:198
538	ATP7A	HP:0001252	Hypotonia	1/1	OMIM:309400
538	ATP7A	HP:0001249	Intellectual disability	HP:0040282	ORPHA:565
538	ATP7A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:198
538	ATP7A	HP:0001249	Intellectual disability	-	OMIM:309400
538	ATP7A	HP:0002578	Gastroparesis	HP:0040282	ORPHA:198
538	ATP7A	HP:0001265	Hyporeflexia	-	OMIM:300489
538	ATP7A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:198
538	ATP7A	HP:0001263	Global developmental delay	4/4	OMIM:304150
538	ATP7A	HP:0001257	Spasticity	HP:0040281	ORPHA:565
538	ATP7A	HP:0001241	Capitate-hamate fusion	-	OMIM:304150
538	ATP7A	HP:0007420	Spontaneous hematomas	HP:0040283	ORPHA:565
538	ATP7A	HP:0025270	Abnormal esophagus physiology	HP:0040282	ORPHA:198
538	ATP7A	HP:0100874	Thick hair	HP:0040283	ORPHA:198
538	ATP7A	HP:0006000	Ureteral obstruction	-	OMIM:304150
538	ATP7A	HP:0003874	Humerus varus	HP:0040283	ORPHA:198
538	ATP7A	HP:0002521	Hypsarrhythmia	1/1	OMIM:309400
538	ATP7A	HP:0002514	Cerebral calcification	HP:0040281	ORPHA:198
538	ATP7A	HP:0003819	Death in childhood	-	OMIM:309400
538	ATP7A	HP:0001396	Cholestasis	HP:0040282	ORPHA:198
538	ATP7A	HP:0001377	Limited elbow extension	-	OMIM:304150
538	ATP7A	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:198
538	ATP7A	HP:0001382	Joint hypermobility	-	OMIM:304150
538	ATP7A	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:565
538	ATP7A	HP:0001382	Joint hypermobility	-	OMIM:309400
538	ATP7A	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:198
538	ATP7A	HP:0000023	Inguinal hernia	HP:0040281	ORPHA:565
538	ATP7A	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:198
538	ATP7A	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:565
538	ATP7A	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:198
538	ATP7A	HP:0000015	Bladder diverticulum	4/4	OMIM:304150
538	ATP7A	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:565
538	ATP7A	HP:0008818	Large iliac wing	HP:0040283	ORPHA:198
538	ATP7A	HP:0001328	Specific learning disability	HP:0040281	ORPHA:198
538	ATP7A	HP:0001324	Muscle weakness	HP:0040282	ORPHA:565
538	ATP7A	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:198
538	ATP7A	HP:0002673	Coxa valga	-	OMIM:304150
538	ATP7A	HP:0002673	Coxa valga	HP:0040283	ORPHA:198
538	ATP7A	HP:0002650	Scoliosis	HP:0040283	ORPHA:198
538	ATP7A	HP:0002645	Wormian bones	-	OMIM:309400
538	ATP7A	HP:0002645	Wormian bones	HP:0040282	ORPHA:565
538	ATP7A	HP:0002617	Vascular dilatation	HP:0040282	ORPHA:198
538	ATP7A	HP:0002617	Vascular dilatation	HP:0040281	ORPHA:565
538	ATP7A	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:565
538	ATP7A	HP:0002797	Osteolysis	HP:0040283	ORPHA:198
538	ATP7A	HP:0012115	Hepatitis	HP:0040282	ORPHA:198
538	ATP7A	HP:0002705	High, narrow palate	HP:0040282	ORPHA:198
538	ATP7A	HP:0000126	Hydronephrosis	-	OMIM:304150
538	ATP7A	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:565
538	ATP7A	HP:0002754	Osteomyelitis	HP:0040283	ORPHA:565
538	ATP7A	HP:0001419	X-linked recessive inheritance	-	OMIM:304150
538	ATP7A	HP:0001419	X-linked recessive inheritance	-	OMIM:300489
538	ATP7A	HP:0001419	X-linked recessive inheritance	-	OMIM:309400
538	ATP7A	HP:0002748	Rickets	HP:0040282	ORPHA:198
538	ATP7A	HP:0002749	Osteomalacia	HP:0040282	ORPHA:198
538	ATP7A	HP:0002024	Malabsorption	HP:0040282	ORPHA:565
538	ATP7A	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:198
538	ATP7A	HP:0002019	Constipation	HP:0040281	ORPHA:388
538	ATP7A	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:388
538	ATP7A	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:565
538	ATP7A	HP:0002036	Hiatus hernia	HP:0040282	ORPHA:198
538	ATP7A	HP:0002036	Hiatus hernia	-	OMIM:304150
538	ATP7A	HP:0002033	Poor suck	HP:0040282	ORPHA:198
538	ATP7A	HP:0002027	Abdominal pain	HP:0040281	ORPHA:388
538	ATP7A	HP:0002028	Chronic diarrhea	3/4	OMIM:304150
538	ATP7A	HP:0002014	Diarrhea	HP:0040283	ORPHA:388
538	ATP7A	HP:0002015	Dysphagia	HP:0040282	ORPHA:198
538	ATP7A	HP:0100541	Femoral hernia	HP:0040283	ORPHA:198
538	ATP7A	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:565
538	ATP7A	HP:0002072	Chorea	HP:0040283	ORPHA:565
538	ATP7A	HP:0002045	Hypothermia	HP:0040282	ORPHA:198
538	ATP7A	HP:0002045	Hypothermia	-	OMIM:309400
538	ATP7A	HP:0002045	Hypothermia	HP:0040283	ORPHA:565
538	ATP7A	HP:0003487	Babinski sign	1/1	OMIM:309400
538	ATP7A	HP:0003445	EMG: neuropathic changes	-	OMIM:300489
538	ATP7A	HP:6000224	Delayed passage of meconium	HP:0040282	ORPHA:388
538	ATP7A	HP:0002170	Intracranial hemorrhage	-	OMIM:309400
538	ATP7A	HP:0002170	Intracranial hemorrhage	HP:0040281	ORPHA:565
538	ATP7A	HP:0010562	Keloids	HP:0040282	ORPHA:198
538	ATP7A	HP:0009556	Absent tibia	HP:0040283	ORPHA:198
538	ATP7A	HP:0003593	Infantile onset	1/1	OMIM:309400
538	ATP7A	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:565
538	ATP7A	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:388
538	ATP7A	HP:0002224	Woolly hair	HP:0040281	ORPHA:565
538	ATP7A	HP:0002208	Coarse hair	HP:0040283	ORPHA:198
538	ATP7A	HP:0002208	Coarse hair	-	OMIM:304150
538	ATP7A	HP:0100777	Exostoses	HP:0040281	ORPHA:198
538	ATP7A	HP:0100777	Exostoses	3/4	OMIM:304150
538	ATP7A	HP:0100777	Exostoses	HP:0040282	ORPHA:565
538	ATP7A	HP:0100790	Hernia	HP:0040281	ORPHA:565
538	ATP7A	HP:0002299	Brittle hair	1/1	OMIM:309400
538	ATP7A	HP:0008368	Tarsal synostosis	HP:0040283	ORPHA:565
538	ATP7A	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:388
538	ATP7A	HP:0011967	Decreased circulating copper concentration	5/5	OMIM:304150
538	ATP7A	HP:0003693	Distal amyotrophy	-	OMIM:300489
538	ATP7A	HP:0002376	Developmental regression	HP:0040281	ORPHA:565
538	ATP7A	HP:0002376	Developmental regression	1/1	OMIM:309400
538	ATP7A	HP:0001010	Hypopigmentation of the skin	1/1	OMIM:309400
538	ATP7A	HP:0003677	Slowly progressive	-	OMIM:300489
538	ATP7A	HP:0002317	Unsteady gait	-	OMIM:300489
538	ATP7A	HP:0200021	Down-sloping shoulders	HP:0040283	ORPHA:198
538	ATP7A	HP:0010837	Decreased circulating ceruloplasmin concentration	1/1	OMIM:309400
538	ATP7A	HP:0010837	Decreased circulating ceruloplasmin concentration	4/5	OMIM:304150
538	ATP7A	HP:0001072	Thickened skin	HP:0040282	ORPHA:565
538	ATP7A	HP:0100633	Esophagitis	HP:0040282	ORPHA:198
538	ATP7A	HP:0100699	Scarring	HP:0040282	ORPHA:198
538	ATP7A	HP:0003621	Juvenile onset	-	OMIM:300489
538	ATP7A	HP:0034754	Bilious emesis	HP:0040282	ORPHA:388
538	ATP7A	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:565
538	ATP7A	HP:0004279	Short palm	HP:0040282	ORPHA:198
538	ATP7A	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:565
538	ATP7A	HP:0004322	Short stature	HP:0040283	ORPHA:388
538	ATP7A	HP:0004322	Short stature	-	OMIM:309400
538	ATP7A	HP:0004387	Enterocolitis	HP:0040283	ORPHA:388
538	ATP7A	HP:0003066	Limited knee extension	-	OMIM:304150
538	ATP7A	HP:0003016	Metaphyseal widening	-	OMIM:309400
538	ATP7A	HP:0003019	Abnormality of the wrist	HP:0040282	ORPHA:198
538	ATP7A	HP:0000759	Abnormal peripheral nervous system morphology	-	OMIM:300489
538	ATP7A	HP:0000767	Pectus excavatum	-	OMIM:304150
538	ATP7A	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:565
538	ATP7A	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:198
538	ATP7A	HP:0000768	Pectus carinatum	-	OMIM:304150
538	ATP7A	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:198
538	ATP7A	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040281	ORPHA:388
538	ATP7A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:565
538	ATP7A	HP:0000774	Narrow chest	-	OMIM:304150
538	ATP7A	HP:0000774	Narrow chest	HP:0040282	ORPHA:565
538	ATP7A	HP:0000774	Narrow chest	HP:0040283	ORPHA:198
538	ATP7A	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040283	ORPHA:198
538	ATP7A	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:198
538	ATP7A	HP:0000916	Broad clavicles	-	OMIM:304150
538	ATP7A	HP:0000929	Abnormal skull morphology	HP:0040281	ORPHA:198
538	ATP7A	HP:0000926	Platyspondyly	-	OMIM:304150
538	ATP7A	HP:0000926	Platyspondyly	HP:0040282	ORPHA:198
538	ATP7A	HP:0003172	Abnormal pubic bone morphology	HP:0040283	ORPHA:198
538	ATP7A	HP:0005792	Short humerus	-	OMIM:304150
538	ATP7A	HP:0004474	Persistent open anterior fontanelle	-	OMIM:304150
538	ATP7A	HP:0000885	Broad ribs	-	OMIM:304150
538	ATP7A	HP:0000894	Short clavicles	-	OMIM:304150
538	ATP7A	HP:0003276	Pelvic bone exostoses	-	OMIM:304150
538	ATP7A	HP:0003270	Abdominal distention	HP:0040282	ORPHA:388
538	ATP7A	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:565
538	ATP7A	HP:0000978	Bruising susceptibility	-	OMIM:304150
538	ATP7A	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:198
538	ATP7A	HP:0000977	Soft skin	-	OMIM:304150
538	ATP7A	HP:0000974	Hyperextensible skin	4/4	OMIM:304150
538	ATP7A	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:565
538	ATP7A	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:198
538	ATP7A	HP:0000973	Cutis laxa	-	OMIM:309400
538	ATP7A	HP:0000987	Atypical scarring of skin	HP:0040282	ORPHA:198
538	ATP7A	HP:0000987	Atypical scarring of skin	HP:0040282	ORPHA:565
538	ATP7A	HP:0000958	Dry skin	HP:0040281	ORPHA:565
538	ATP7A	HP:0000952	Jaundice	HP:0040282	ORPHA:198
538	ATP7A	HP:0000939	Osteoporosis	-	OMIM:304150
538	ATP7A	HP:0000939	Osteoporosis	HP:0040283	ORPHA:565
538	ATP7A	HP:0000939	Osteoporosis	HP:0040282	ORPHA:198
538	ATP7A	HP:0000939	Osteoporosis	-	OMIM:309400
538	ATP7A	HP:0000938	Osteopenia	HP:0040282	ORPHA:198
538	ATP7A	HP:0000934	Chondrocalcinosis	HP:0040283	ORPHA:565
538	ATP7A	HP:0100240	Synostosis of joints	HP:0040282	ORPHA:198
538	ATP7A	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:565
538	ATP7A	HP:0008070	Sparse hair	HP:0040281	ORPHA:565
538	ATP7A	HP:0008070	Sparse hair	-	OMIM:309400
538	ATP7A	HP:0000298	Mask-like facies	HP:0040282	ORPHA:565
538	ATP7A	HP:0000293	Full cheeks	HP:0040282	ORPHA:565
538	ATP7A	HP:0001596	Alopecia	1/1	OMIM:309400
538	ATP7A	HP:0000275	Narrow face	-	OMIM:304150
538	ATP7A	HP:0000276	Long face	-	OMIM:304150
538	ATP7A	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:198
538	ATP7A	HP:0000270	Delayed cranial suture closure	HP:0040281	ORPHA:198
538	ATP7A	HP:0000269	Prominent occiput	HP:0040282	ORPHA:565
538	ATP7A	HP:0002812	Coxa vara	HP:0040283	ORPHA:198
538	ATP7A	HP:0002827	Hip dislocation	HP:0040283	ORPHA:198
538	ATP7A	HP:0002808	Kyphosis	-	OMIM:304150
538	ATP7A	HP:0002808	Kyphosis	HP:0040283	ORPHA:198
538	ATP7A	HP:0005054	Metaphyseal spurs	-	OMIM:309400
538	ATP7A	HP:0000239	Large fontanelles	HP:0040281	ORPHA:198
538	ATP7A	HP:0000252	Microcephaly	HP:0040281	ORPHA:565
538	ATP7A	HP:0000252	Microcephaly	-	OMIM:309400
538	ATP7A	HP:0001582	Redundant skin	-	OMIM:304150
538	ATP7A	HP:0000248	Brachycephaly	-	OMIM:309400
538	ATP7A	HP:0000218	High palate	-	OMIM:304150
538	ATP7A	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:388
538	ATP7A	HP:0002862	Bladder carcinoma	-	OMIM:304150
538	ATP7A	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:388
538	ATP7A	HP:0002857	Genu valgum	-	OMIM:304150
538	ATP7A	HP:0002857	Genu valgum	HP:0040283	ORPHA:198
538	ATP7A	HP:0001537	Umbilical hernia	HP:0040281	ORPHA:565
538	ATP7A	HP:0031369	Colon perforation	HP:0040283	ORPHA:388
538	ATP7A	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:565
538	ATP7A	HP:0001511	Intrauterine growth retardation	-	OMIM:309400
538	ATP7A	HP:0001510	Growth delay	4/4	OMIM:304150
538	ATP7A	HP:0001510	Growth delay	HP:0040283	ORPHA:388
538	ATP7A	HP:0006507	Aplasia/hypoplasia of the humerus	HP:0040283	ORPHA:198
538	ATP7A	HP:0011097	Epileptic spasm	1/1	OMIM:309400
538	ATP7A	HP:0012378	Fatigue	HP:0040281	ORPHA:565
538	ATP7A	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:565
538	ATP7A	HP:0005214	Intestinal obstruction	HP:0040281	ORPHA:388
538	ATP7A	HP:0002936	Distal sensory impairment	HP:0040283	OMIM:300489
538	ATP7A	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:565
538	ATP7A	HP:0000343	Long philtrum	-	OMIM:304150
538	ATP7A	HP:0000343	Long philtrum	HP:0040282	ORPHA:198
538	ATP7A	HP:0000348	High forehead	-	OMIM:304150
538	ATP7A	HP:0000348	High forehead	HP:0040283	ORPHA:198
538	ATP7A	HP:0000347	Micrognathia	HP:0040282	ORPHA:565
538	ATP7A	HP:0002991	Abnormal fibula morphology	HP:0040283	ORPHA:198
538	ATP7A	HP:0005302	Carotid artery tortuosity	-	OMIM:304150
538	ATP7A	HP:0005344	Abnormal carotid artery morphology	HP:0040282	ORPHA:565
538	ATP7A	HP:0006660	Aplastic clavicle	HP:0040283	ORPHA:198
538	ATP7A	HP:0005293	Venous insufficiency	HP:0040282	ORPHA:565
538	ATP7A	HP:0005293	Venous insufficiency	HP:0040282	ORPHA:198
538	ATP7A	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:198
538	ATP7A	HP:0000472	Long neck	-	OMIM:304150
538	ATP7A	HP:0001763	Pes planus	-	OMIM:304150
538	ATP7A	HP:0001763	Pes planus	HP:0040283	ORPHA:198
538	ATP7A	HP:0000444	Convex nasal ridge	-	OMIM:304150
538	ATP7A	HP:0001761	Pes cavus	-	OMIM:300489
538	ATP7A	HP:0001824	Weight loss	HP:0040282	ORPHA:388
539	ATP5PO	HP:0002490	Increased CSF lactate	1/1	OMIM:620359
539	ATP5PO	HP:0001250	Seizure	1/1	OMIM:620359
539	ATP5PO	HP:0001252	Hypotonia	1/1	OMIM:620359
539	ATP5PO	HP:0001263	Global developmental delay	1/1	OMIM:620359
539	ATP5PO	HP:0007359	Focal-onset seizure	1/1	OMIM:620359
539	ATP5PO	HP:0001332	Dystonia	1/1	OMIM:620359
539	ATP5PO	HP:0000007	Autosomal recessive inheritance	-	OMIM:620359
539	ATP5PO	HP:0003623	Neonatal onset	1/1	OMIM:620359
539	ATP5PO	HP:0032867	Refractory status epilepticus	1/1	OMIM:620359
539	ATP5PO	HP:0012444	Brain atrophy	1/1	OMIM:620359
539	ATP5PO	HP:0005484	Secondary microcephaly	1/1	OMIM:620359
540	ATP7B	HP:0001155	Abnormality of the hand	HP:0040281	ORPHA:905
540	ATP7B	HP:0003781	Excessive salivation	HP:0040283	ORPHA:905
540	ATP7B	HP:0002451	Limb dystonia	1/1	OMIM:277900
540	ATP7B	HP:0007327	Mixed demyelinating and axonal polyneuropathy	-	OMIM:277900
540	ATP7B	HP:0032254	Increased circulating copper concentration	1/1	OMIM:277900
540	ATP7B	HP:6000642	Sunflower cataract	HP:0040284	ORPHA:905
540	ATP7B	HP:6000642	Sunflower cataract	-	OMIM:277900
540	ATP7B	HP:0001271	Polyneuropathy	HP:0040283	OMIM:277900
540	ATP7B	HP:0001288	Gait disturbance	HP:0040282	ORPHA:905
540	ATP7B	HP:0001250	Seizure	1/14	OMIM:277900
540	ATP7B	HP:0001250	Seizure	HP:0040283	ORPHA:905
540	ATP7B	HP:0001249	Intellectual disability	HP:0040281	ORPHA:905
540	ATP7B	HP:0001260	Dysarthria	1/14	OMIM:277900
540	ATP7B	HP:0001260	Dysarthria	HP:0040281	ORPHA:905
540	ATP7B	HP:0001259	Coma	-	OMIM:277900
540	ATP7B	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1/1	OMIM:277900
540	ATP7B	HP:0000093	Proteinuria	-	OMIM:277900
540	ATP7B	HP:0001397	Hepatic steatosis	HP:0040281	ORPHA:905
540	ATP7B	HP:0001397	Hepatic steatosis	1/1	OMIM:277900
540	ATP7B	HP:0001399	Hepatic failure	4/4	OMIM:277900
540	ATP7B	HP:0001394	Cirrhosis	HP:0040281	ORPHA:905
540	ATP7B	HP:0001394	Cirrhosis	2/2	OMIM:277900
540	ATP7B	HP:0001369	Arthritis	HP:0040281	ORPHA:905
540	ATP7B	HP:0001386	Joint swelling	HP:0040281	ORPHA:905
540	ATP7B	HP:0001382	Joint hypermobility	-	OMIM:277900
540	ATP7B	HP:0033834	Malaise	1/1	OMIM:277900
540	ATP7B	HP:0001332	Dystonia	-	OMIM:277900
540	ATP7B	HP:0001332	Dystonia	HP:0040282	ORPHA:905
540	ATP7B	HP:0000007	Autosomal recessive inheritance	-	OMIM:277900
540	ATP7B	HP:0001337	Tremor	3/3	OMIM:277900
540	ATP7B	HP:0001337	Tremor	HP:0040282	ORPHA:905
540	ATP7B	HP:0033748	Hypoesthesia	1/3	OMIM:277900
540	ATP7B	HP:0002653	Bone pain	HP:0040281	ORPHA:905
540	ATP7B	HP:0000140	Abnormality of the menstrual cycle	HP:0040281	ORPHA:905
540	ATP7B	HP:0012115	Hepatitis	HP:0040281	ORPHA:905
540	ATP7B	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040281	ORPHA:905
540	ATP7B	HP:0000124	Renal tubular dysfunction	-	OMIM:277900
540	ATP7B	HP:0002758	Osteoarthritis	-	OMIM:277900
540	ATP7B	HP:0002756	Pathologic fracture	HP:0040281	ORPHA:905
540	ATP7B	HP:0001402	Hepatocellular carcinoma	HP:0040283	OMIM:277900
540	ATP7B	HP:0002749	Osteomalacia	-	OMIM:277900
540	ATP7B	HP:0003355	Aminoaciduria	HP:0040283	ORPHA:905
540	ATP7B	HP:0003355	Aminoaciduria	-	OMIM:277900
540	ATP7B	HP:0002027	Abdominal pain	HP:0040283	ORPHA:905
540	ATP7B	HP:0002015	Dysphagia	-	OMIM:277900
540	ATP7B	HP:0002013	Vomiting	1/3	OMIM:277900
540	ATP7B	HP:0002013	Vomiting	HP:0040283	ORPHA:905
540	ATP7B	HP:0002063	Rigidity	1/1	OMIM:277900
540	ATP7B	HP:0002072	Chorea	HP:0040282	ORPHA:905
540	ATP7B	HP:0002071	Abnormality of extrapyramidal motor function	1/1	OMIM:277900
540	ATP7B	HP:0002040	Esophageal varix	-	OMIM:277900
540	ATP7B	HP:0002150	Hypercalciuria	-	OMIM:277900
540	ATP7B	HP:0003418	Back pain	HP:0040281	ORPHA:905
540	ATP7B	HP:0002275	Poor motor coordination	-	OMIM:277900
540	ATP7B	HP:0002240	Hepatomegaly	2/2	OMIM:277900
540	ATP7B	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:905
540	ATP7B	HP:0003537	Hypouricemia	1/1	OMIM:277900
540	ATP7B	HP:0200119	Acute hepatitis	HP:0040281	ORPHA:905
540	ATP7B	HP:0100785	Insomnia	HP:0040283	ORPHA:905
540	ATP7B	HP:0100785	Insomnia	1/3	OMIM:277900
540	ATP7B	HP:0200122	Atypical or prolonged hepatitis	-	OMIM:277900
540	ATP7B	HP:0003690	Limb muscle weakness	1/1	OMIM:277900
540	ATP7B	HP:0002378	Hand tremor	1/1	OMIM:277900
540	ATP7B	HP:0002375	Hypokinesia	1/1	OMIM:277900
540	ATP7B	HP:0010838	High nonceruloplasmin-bound serum copper	4/4	OMIM:277900
540	ATP7B	HP:0010837	Decreased circulating ceruloplasmin concentration	HP:0040282	ORPHA:905
540	ATP7B	HP:0010837	Decreased circulating ceruloplasmin concentration	12/12	OMIM:277900
540	ATP7B	HP:0010839	Increased urinary copper concentration	5/5	OMIM:277900
540	ATP7B	HP:0200032	Kayser-Fleischer ring	HP:0040281	ORPHA:905
540	ATP7B	HP:0200032	Kayser-Fleischer ring	9/17	OMIM:277900
540	ATP7B	HP:0010741	Pedal edema	2/2	OMIM:277900
540	ATP7B	HP:0002312	Clumsiness	HP:0040281	ORPHA:905
540	ATP7B	HP:0002307	Drooling	1/14	OMIM:277900
540	ATP7B	HP:0003621	Juvenile onset	20/30	OMIM:277900
540	ATP7B	HP:5200321	Amplification of sexual behavior	HP:0040281	ORPHA:905
540	ATP7B	HP:0001903	Anemia	1/1	OMIM:277900
540	ATP7B	HP:0001903	Anemia	HP:0040281	ORPHA:905
540	ATP7B	HP:0004324	Increased body weight	HP:0040281	ORPHA:905
540	ATP7B	HP:0031956	Elevated circulating aspartate aminotransferase concentration	17/18	OMIM:277900
540	ATP7B	HP:0031964	Elevated circulating alanine aminotransferase concentration	16/18	OMIM:277900
540	ATP7B	HP:0003076	Glycosuria	-	OMIM:277900
540	ATP7B	HP:0003073	Hypoalbuminemia	2/2	OMIM:277900
540	ATP7B	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040283	ORPHA:905
540	ATP7B	HP:0000751	Personality changes	HP:0040282	ORPHA:905
540	ATP7B	HP:0000751	Personality changes	-	OMIM:277900
540	ATP7B	HP:0000762	Decreased nerve conduction velocity	1/1	OMIM:277900
540	ATP7B	HP:0000738	Hallucinations	HP:0040283	ORPHA:905
540	ATP7B	HP:0000739	Anxiety	HP:0040283	ORPHA:905
540	ATP7B	HP:0000716	Depression	HP:0040281	ORPHA:905
540	ATP7B	HP:0000718	Aggressive behavior	HP:0040281	ORPHA:905
540	ATP7B	HP:0000726	Dementia	-	OMIM:277900
540	ATP7B	HP:0000709	Psychosis	HP:0040283	ORPHA:905
540	ATP7B	HP:0011463	Childhood onset	5/29	OMIM:277900
540	ATP7B	HP:0011462	Young adult onset	5/15	OMIM:277900
540	ATP7B	HP:0000789	Infertility	HP:0040283	ORPHA:905
540	ATP7B	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:905
540	ATP7B	HP:0000787	Nephrolithiasis	-	OMIM:277900
540	ATP7B	HP:0003109	Hyperphosphaturia	-	OMIM:277900
540	ATP7B	HP:0004409	Hyposmia	1/1	OMIM:277900
540	ATP7B	HP:0000829	Hypoparathyroidism	HP:0040283	ORPHA:905
540	ATP7B	HP:0000829	Hypoparathyroidism	-	OMIM:277900
540	ATP7B	HP:0034254	Face of the giant panda sign	1/1	OMIM:277900
540	ATP7B	HP:0003270	Abdominal distention	1/1	OMIM:277900
540	ATP7B	HP:0000978	Bruising susceptibility	HP:0040281	ORPHA:905
540	ATP7B	HP:0000989	Pruritus	HP:0040281	ORPHA:905
540	ATP7B	HP:0000952	Jaundice	HP:0040281	ORPHA:905
540	ATP7B	HP:0000952	Jaundice	4/5	OMIM:277900
540	ATP7B	HP:0000969	Edema	3/3	OMIM:277900
540	ATP7B	HP:0000939	Osteoporosis	HP:0040282	ORPHA:905
540	ATP7B	HP:0000939	Osteoporosis	-	OMIM:277900
540	ATP7B	HP:0000934	Chondrocalcinosis	-	OMIM:277900
540	ATP7B	HP:0002829	Arthralgia	HP:0040281	ORPHA:905
540	ATP7B	HP:0001541	Ascites	HP:0040283	ORPHA:905
540	ATP7B	HP:0001541	Ascites	1/1	OMIM:277900
540	ATP7B	HP:0001508	Failure to thrive	HP:0040281	ORPHA:905
540	ATP7B	HP:0006580	Portal fibrosis	1/1	OMIM:277900
540	ATP7B	HP:0006554	Acute hepatic failure	HP:0040281	ORPHA:905
540	ATP7B	HP:0006554	Acute hepatic failure	1/3	OMIM:277900
540	ATP7B	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:905
540	ATP7B	HP:0002904	Hyperbilirubinemia	2/2	OMIM:277900
540	ATP7B	HP:0001733	Pancreatitis	HP:0040283	ORPHA:905
540	ATP7B	HP:0025710	Late young adult onset	1/1	OMIM:277900
540	ATP7B	HP:0001744	Splenomegaly	1/1	OMIM:277900
540	ATP7B	HP:0001744	Splenomegaly	HP:0040281	ORPHA:905
540	ATP7B	HP:0025709	Intermediate young adult onset	2/2	OMIM:277900
540	ATP7B	HP:0001824	Weight loss	HP:0040281	ORPHA:905
540	ATP7B	HP:0001878	Hemolytic anemia	HP:0040282	ORPHA:905
540	ATP7B	HP:0001878	Hemolytic anemia	-	OMIM:277900
540	ATP7B	HP:0001873	Thrombocytopenia	1/2	OMIM:277900
540	ATP7B	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:905
545	ATR	HP:0025127	Actinic keratosis	1/12	OMIM:614564
545	ATR	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
545	ATR	HP:0001293	Cranial nerve compression	-	OMIM:131300
545	ATR	HP:0001250	Seizure	-	OMIM:210600
545	ATR	HP:0001252	Hypotonia	2/7	OMIM:615777
545	ATR	HP:0001249	Intellectual disability	HP:0040281	ORPHA:808
545	ATR	HP:0001249	Intellectual disability	-	OMIM:210600
545	ATR	HP:0001249	Intellectual disability	5/7	OMIM:615777
545	ATR	HP:0001263	Global developmental delay	-	OMIM:615777
545	ATR	HP:0007380	Facial telangiectasia	12/12	OMIM:614564
545	ATR	HP:0008665	Clitoral hypertrophy	-	OMIM:210600
545	ATR	HP:0002515	Waddling gait	54/102	OMIM:131300
545	ATR	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:808
545	ATR	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:808
545	ATR	HP:0001382	Joint hypermobility	-	OMIM:615777
545	ATR	HP:0000047	Hypospadias	-	OMIM:210600
545	ATR	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:808
545	ATR	HP:0002694	Sclerosis of skull base	-	OMIM:131300
545	ATR	HP:0033832	Livedo	1/12	OMIM:614564
545	ATR	HP:0000028	Cryptorchidism	-	OMIM:210600
545	ATR	HP:0008897	Postnatal growth retardation	-	OMIM:615777
545	ATR	HP:0008897	Postnatal growth retardation	-	OMIM:210600
545	ATR	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:808
545	ATR	HP:0006143	Abnormal finger flexion crease	-	OMIM:210600
545	ATR	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
545	ATR	HP:0001324	Muscle weakness	40/96	OMIM:131300
545	ATR	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
545	ATR	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
545	ATR	HP:0000007	Autosomal recessive inheritance	-	OMIM:210600
545	ATR	HP:0000006	Autosomal dominant inheritance	-	OMIM:614564
545	ATR	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
545	ATR	HP:0001302	Pachygyria	-	OMIM:210600
545	ATR	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:210600
545	ATR	HP:0002650	Scoliosis	HP:0040283	ORPHA:808
545	ATR	HP:0002650	Scoliosis	-	OMIM:210600
545	ATR	HP:0002650	Scoliosis	12/14	OMIM:131300
545	ATR	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
545	ATR	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
545	ATR	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
545	ATR	HP:0012182	Oropharyngeal squamous cell carcinoma	10/23	OMIM:614564
545	ATR	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
545	ATR	HP:0000175	Cleft palate	2/7	OMIM:615777
545	ATR	HP:0000175	Cleft palate	-	OMIM:210600
545	ATR	HP:0006297	Enamel hypoplasia	2/12	OMIM:614564
545	ATR	HP:0006297	Enamel hypoplasia	-	OMIM:210600
545	ATR	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:808
545	ATR	HP:0002750	Delayed skeletal maturation	-	OMIM:210600
545	ATR	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:808
545	ATR	HP:0003388	Easy fatigability	36/76	OMIM:131300
545	ATR	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
545	ATR	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:808
545	ATR	HP:0010583	Ivory epiphyses	-	OMIM:210600
545	ATR	HP:0003593	Infantile onset	6/8	OMIM:614564
545	ATR	HP:0003577	Congenital onset	1/8	OMIM:614564
545	ATR	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:808
545	ATR	HP:0008404	Nail dystrophy	1/12	OMIM:614564
545	ATR	HP:0007048	Large basal ganglia	-	OMIM:210600
545	ATR	HP:0003510	Severe short stature	7/7	OMIM:615777
545	ATR	HP:0003508	Proportionate short stature	-	OMIM:210600
545	ATR	HP:0001009	Telangiectasia	12/12	OMIM:614564
545	ATR	HP:0002315	Headache	-	OMIM:131300
545	ATR	HP:0004976	Knee dislocation	6/7	OMIM:615777
545	ATR	HP:0001090	Abnormally large globe	-	OMIM:210600
545	ATR	HP:0009804	Tooth agenesis	HP:0040282	ORPHA:808
545	ATR	HP:0009803	Short phalanx of finger	-	OMIM:615777
545	ATR	HP:0009763	Limb pain	63/92	OMIM:131300
545	ATR	HP:0003621	Juvenile onset	-	OMIM:131300
545	ATR	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
545	ATR	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:808
545	ATR	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:210600
545	ATR	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
545	ATR	HP:6001056	Out-toeing	-	OMIM:131300
545	ATR	HP:0000651	Diplopia	-	OMIM:131300
545	ATR	HP:0001956	Truncal obesity	2/7	OMIM:615777
545	ATR	HP:0001903	Anemia	HP:0040283	OMIM:131300
545	ATR	HP:0010049	Short metacarpal	-	OMIM:615777
545	ATR	HP:0011367	Yellow nails	1/12	OMIM:614564
545	ATR	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:808
545	ATR	HP:0011342	Mild global developmental delay	HP:0040281	ORPHA:808
545	ATR	HP:0000678	Dental crowding	-	OMIM:615777
545	ATR	HP:0000678	Dental crowding	-	OMIM:210600
545	ATR	HP:0000689	Dental malocclusion	-	OMIM:210600
545	ATR	HP:0000670	Carious teeth	-	OMIM:131300
545	ATR	HP:0000670	Carious teeth	7/12	OMIM:614564
545	ATR	HP:0011304	Broad thumb	2/7	OMIM:615777
545	ATR	HP:0000668	Hypodontia	-	OMIM:615777
545	ATR	HP:0000664	Synophrys	-	OMIM:615777
545	ATR	HP:0004322	Short stature	HP:0040281	ORPHA:808
545	ATR	HP:0003002	Breast carcinoma	1/23	OMIM:614564
545	ATR	HP:0004326	Cachexia	HP:0040281	ORPHA:808
545	ATR	HP:0003083	Dislocated radial head	-	OMIM:210600
545	ATR	HP:0004396	Poor appetite	-	OMIM:131300
545	ATR	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
545	ATR	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
545	ATR	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
545	ATR	HP:0003026	Short long bone	7/7	OMIM:615777
545	ATR	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
545	ATR	HP:0000752	Hyperactivity	-	OMIM:210600
545	ATR	HP:0000767	Pectus excavatum	2/7	OMIM:615777
545	ATR	HP:0000768	Pectus carinatum	1/7	OMIM:615777
545	ATR	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
545	ATR	HP:0000750	Delayed speech and language development	-	OMIM:615777
545	ATR	HP:0011463	Childhood onset	1/8	OMIM:614564
545	ATR	HP:0011461	Fetal onset	7/7	OMIM:615777
545	ATR	HP:0000774	Narrow chest	2/7	OMIM:615777
545	ATR	HP:0000926	Platyspondyly	1/7	OMIM:615777
545	ATR	HP:0003180	Flat acetabular roof	-	OMIM:615777
545	ATR	HP:0004482	Relative macrocephaly	-	OMIM:615777
545	ATR	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
545	ATR	HP:0000878	11 pairs of ribs	-	OMIM:210600
545	ATR	HP:0000823	Delayed puberty	-	OMIM:131300
545	ATR	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	-	OMIM:210600
545	ATR	HP:0000894	Short clavicles	-	OMIM:615777
545	ATR	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
545	ATR	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
545	ATR	HP:0000954	Single transverse palmar crease	-	OMIM:210600
545	ATR	HP:0000286	Epicanthus	1/7	OMIM:615777
545	ATR	HP:0000280	Coarse facial features	2/7	OMIM:615777
545	ATR	HP:0001596	Alopecia	-	OMIM:614564
545	ATR	HP:0001592	Selective tooth agenesis	-	OMIM:210600
545	ATR	HP:0000275	Narrow face	HP:0040281	ORPHA:808
545	ATR	HP:0006442	Hypoplasia of proximal fibula	-	OMIM:210600
545	ATR	HP:0006434	Hypoplasia of proximal radius	-	OMIM:210600
545	ATR	HP:0002827	Hip dislocation	3/7	OMIM:615777
545	ATR	HP:0002827	Hip dislocation	-	OMIM:210600
545	ATR	HP:0000237	Small anterior fontanelle	-	OMIM:210600
545	ATR	HP:0000252	Microcephaly	HP:0040281	ORPHA:808
545	ATR	HP:0000252	Microcephaly	-	OMIM:210600
545	ATR	HP:0000252	Microcephaly	-	OMIM:615777
545	ATR	HP:0012203	Onychomycosis	1/12	OMIM:614564
545	ATR	HP:0000218	High palate	-	OMIM:210600
545	ATR	HP:0002857	Genu valgum	-	OMIM:131300
545	ATR	HP:0001533	Slender build	-	OMIM:131300
545	ATR	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:808
545	ATR	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
545	ATR	HP:0001511	Intrauterine growth retardation	-	OMIM:210600
545	ATR	HP:0007807	Optic nerve compression	-	OMIM:131300
545	ATR	HP:0011065	Conical incisor	2/12	OMIM:614564
545	ATR	HP:0000387	Absent earlobe	HP:0040282	ORPHA:808
545	ATR	HP:0012368	Flat face	7/7	OMIM:615777
545	ATR	HP:0000377	Abnormal pinna morphology	-	OMIM:210600
545	ATR	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
545	ATR	HP:0000363	Abnormal earlobe morphology	HP:0040282	ORPHA:808
545	ATR	HP:0000365	Hearing impairment	10/67	OMIM:131300
545	ATR	HP:0000369	Low-set ears	-	OMIM:210600
545	ATR	HP:0000340	Sloping forehead	-	OMIM:210600
545	ATR	HP:0000343	Long philtrum	1/7	OMIM:615777
545	ATR	HP:0011001	Increased bone mineral density	-	OMIM:131300
545	ATR	HP:0000347	Micrognathia	HP:0040281	ORPHA:808
545	ATR	HP:0000347	Micrognathia	-	OMIM:210600
545	ATR	HP:0000311	Round face	2/7	OMIM:615777
545	ATR	HP:0002987	Elbow flexion contracture	-	OMIM:210600
545	ATR	HP:0000324	Facial asymmetry	-	OMIM:210600
545	ATR	HP:0002970	Genu varum	-	OMIM:615777
545	ATR	HP:0000303	Mandibular prognathia	-	OMIM:131300
545	ATR	HP:0005338	Sparse lateral eyebrow	11/12	OMIM:614564
545	ATR	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
545	ATR	HP:0000486	Strabismus	-	OMIM:210600
545	ATR	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:808
545	ATR	HP:0000494	Downslanted palpebral fissures	-	OMIM:210600
545	ATR	HP:0000470	Short neck	1/7	OMIM:615777
545	ATR	HP:0001769	Broad foot	HP:0040283	OMIM:615777
545	ATR	HP:0001763	Pes planus	1/7	OMIM:615777
545	ATR	HP:0001763	Pes planus	-	OMIM:210600
545	ATR	HP:0000448	Prominent nose	-	OMIM:210600
545	ATR	HP:0000444	Convex nasal ridge	4/24	OMIM:614564
545	ATR	HP:0000444	Convex nasal ridge	-	OMIM:210600
545	ATR	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:808
545	ATR	HP:0001840	Metatarsus adductus	-	OMIM:615777
545	ATR	HP:0001852	Sandal gap	-	OMIM:210600
545	ATR	HP:0001852	Sandal gap	HP:0040281	ORPHA:808
545	ATR	HP:0000520	Proptosis	2/4	OMIM:131300
545	ATR	HP:0000520	Proptosis	7/7	OMIM:615777
545	ATR	HP:0000501	Glaucoma	HP:0040282	ORPHA:808
545	ATR	HP:0001807	Ridged nail	4/12	OMIM:614564
545	ATR	HP:0001806	Onycholysis	1/12	OMIM:614564
545	ATR	HP:0000581	Blepharophimosis	-	OMIM:210600
545	ATR	HP:0000592	Blue sclerae	2/7	OMIM:615777
545	ATR	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
545	ATR	HP:0001883	Talipes	-	OMIM:210600
545	ATR	HP:0012514	Lower limb pain	4/4	OMIM:131300
545	ATR	HP:0001876	Pancytopenia	-	OMIM:210600
546	ATRX	HP:0001182	Tapered finger	-	OMIM:309580
546	ATRX	HP:0001182	Tapered finger	-	OMIM:301040
546	ATRX	HP:0002488	Acute leukemia	HP:0040283	ORPHA:231401
546	ATRX	HP:0001156	Brachydactyly	HP:0040283	ORPHA:847
546	ATRX	HP:0001156	Brachydactyly	-	OMIM:309580
546	ATRX	HP:0001123	Visual field defect	HP:0040284	ORPHA:96253
546	ATRX	HP:0010885	Avascular necrosis	HP:0040284	ORPHA:96253
546	ATRX	HP:0010864	Intellectual disability, severe	-	OMIM:309580
546	ATRX	HP:0008551	Microtia	-	OMIM:309580
546	ATRX	HP:0008551	Microtia	-	OMIM:301040
546	ATRX	HP:0033505	Livedo reticularis	HP:0040283	ORPHA:96253
546	ATRX	HP:0001297	Stroke	HP:0040283	ORPHA:96253
546	ATRX	HP:0025269	Panic attack	HP:0040284	ORPHA:96253
546	ATRX	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:847
546	ATRX	HP:0001250	Seizure	HP:0040282	ORPHA:847
546	ATRX	HP:0001250	Seizure	35%	OMIM:309580
546	ATRX	HP:0001250	Seizure	1/1	OMIM:301040
546	ATRX	HP:0002580	Volvulus	HP:0040283	ORPHA:847
546	ATRX	HP:0001252	Hypotonia	HP:0040282	ORPHA:847
546	ATRX	HP:0001252	Hypotonia	1/1	OMIM:301040
546	ATRX	HP:0001249	Intellectual disability	HP:0040281	ORPHA:847
546	ATRX	HP:0001249	Intellectual disability	1/1	OMIM:301040
546	ATRX	HP:0001263	Global developmental delay	-	OMIM:301040
546	ATRX	HP:0001258	Spastic paraplegia	HP:0040283	ORPHA:847
546	ATRX	HP:0001257	Spasticity	-	OMIM:301040
546	ATRX	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:100075
546	ATRX	HP:0001238	Slender finger	-	OMIM:309580
546	ATRX	HP:0008734	Decreased testicular size	-	OMIM:309580
546	ATRX	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:847
546	ATRX	HP:0007380	Facial telangiectasia	HP:0040284	ORPHA:100075
546	ATRX	HP:0025383	Dorsocervical fat pad	HP:0040282	ORPHA:96253
546	ATRX	HP:0000089	Renal hypoplasia	-	OMIM:309580
546	ATRX	HP:0001399	Hepatic failure	HP:0040284	ORPHA:100075
546	ATRX	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:847
546	ATRX	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:847
546	ATRX	HP:0000076	Vesicoureteral reflux	-	OMIM:309580
546	ATRX	HP:0000046	Small scrotum	-	OMIM:309580
546	ATRX	HP:0001371	Flexion contracture	HP:0040283	ORPHA:847
546	ATRX	HP:0012030	Increased urinary cortisol level	HP:0040281	ORPHA:96253
546	ATRX	HP:0000037	Male pseudohermaphroditism	HP:0040281	ORPHA:847
546	ATRX	HP:0000054	Micropenis	-	OMIM:309580
546	ATRX	HP:0000054	Micropenis	-	OMIM:301040
546	ATRX	HP:0001387	Joint stiffness	HP:0040283	ORPHA:847
546	ATRX	HP:0000047	Hypospadias	-	OMIM:309580
546	ATRX	HP:0000047	Hypospadias	-	OMIM:301040
546	ATRX	HP:0000049	Shawl scrotum	-	OMIM:301040
546	ATRX	HP:0001347	Hyperreflexia	-	OMIM:309580
546	ATRX	HP:0002690	Large sella turcica	HP:0040283	ORPHA:96253
546	ATRX	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:847
546	ATRX	HP:0000028	Cryptorchidism	-	OMIM:309580
546	ATRX	HP:0000028	Cryptorchidism	-	OMIM:301040
546	ATRX	HP:0002688	Absent frontal sinuses	-	OMIM:301040
546	ATRX	HP:0008897	Postnatal growth retardation	-	OMIM:301040
546	ATRX	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:847
546	ATRX	HP:0001324	Muscle weakness	HP:0040282	ORPHA:96253
546	ATRX	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:847
546	ATRX	HP:0002673	Coxa valga	-	OMIM:301040
546	ATRX	HP:0002668	Paraganglioma	HP:0040284	ORPHA:100075
546	ATRX	HP:0002650	Scoliosis	1/1	OMIM:301040
546	ATRX	HP:0002615	Hypotension	HP:0040284	ORPHA:100075
546	ATRX	HP:0000188	Short upper lip	-	OMIM:309580
546	ATRX	HP:0000179	Thick lower lip vermilion	-	OMIM:301040
546	ATRX	HP:0000179	Thick lower lip vermilion	HP:0040282	ORPHA:847
546	ATRX	HP:0000179	Thick lower lip vermilion	-	OMIM:309580
546	ATRX	HP:0000194	Open mouth	-	OMIM:309580
546	ATRX	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:847
546	ATRX	HP:0000158	Macroglossia	-	OMIM:301040
546	ATRX	HP:0000158	Macroglossia	HP:0040282	ORPHA:847
546	ATRX	HP:0000158	Macroglossia	-	OMIM:309580
546	ATRX	HP:0000141	Amenorrhea	HP:0040282	ORPHA:96253
546	ATRX	HP:0000135	Hypogonadism	-	OMIM:309580
546	ATRX	HP:0000154	Wide mouth	-	OMIM:309580
546	ATRX	HP:0008947	Floppy infant	-	OMIM:301040
546	ATRX	HP:0008947	Floppy infant	-	OMIM:309580
546	ATRX	HP:0031284	Flushing	HP:0040283	ORPHA:96253
546	ATRX	HP:0500011	Moon facies	HP:0040282	ORPHA:96253
546	ATRX	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:847
546	ATRX	HP:0000126	Hydronephrosis	-	OMIM:301040
546	ATRX	HP:0001423	X-linked dominant inheritance	-	OMIM:301040
546	ATRX	HP:0000104	Renal agenesis	-	OMIM:301040
546	ATRX	HP:0002751	Kyphoscoliosis	-	OMIM:309580
546	ATRX	HP:0002751	Kyphoscoliosis	-	OMIM:301040
546	ATRX	HP:0002750	Delayed skeletal maturation	-	OMIM:309580
546	ATRX	HP:0001419	X-linked recessive inheritance	-	OMIM:309580
546	ATRX	HP:0002730	Chronic noninfectious lymphadenopathy	HP:0040283	ORPHA:100075
546	ATRX	HP:0002721	Immunodeficiency	HP:0040282	ORPHA:96253
546	ATRX	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:231401
546	ATRX	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:847
546	ATRX	HP:0002020	Gastroesophageal reflux	-	OMIM:309580
546	ATRX	HP:0002020	Gastroesophageal reflux	-	OMIM:301040
546	ATRX	HP:0002019	Constipation	HP:0040283	ORPHA:847
546	ATRX	HP:0002019	Constipation	-	OMIM:309580
546	ATRX	HP:0002019	Constipation	-	OMIM:301040
546	ATRX	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:847
546	ATRX	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:100075
546	ATRX	HP:0002033	Poor suck	1/1	OMIM:301040
546	ATRX	HP:0002013	Vomiting	-	OMIM:309580
546	ATRX	HP:0011800	Midface retrusion	HP:0040282	ORPHA:847
546	ATRX	HP:0011800	Midface retrusion	-	OMIM:309580
546	ATRX	HP:0011800	Midface retrusion	1/1	OMIM:301040
546	ATRX	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:96253
546	ATRX	HP:0002094	Dyspnea	HP:0040282	ORPHA:231401
546	ATRX	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:301040
546	ATRX	HP:0002044	Zollinger-Ellison syndrome	HP:0040283	ORPHA:100075
546	ATRX	HP:0002039	Anorexia	HP:0040282	ORPHA:100075
546	ATRX	HP:0002059	Cerebral atrophy	-	OMIM:301040
546	ATRX	HP:0009466	Radial deviation of finger	-	OMIM:309580
546	ATRX	HP:0009466	Radial deviation of finger	-	OMIM:301040
546	ATRX	HP:0100570	Carcinoid tumor	HP:0040280	ORPHA:100075
546	ATRX	HP:0040270	Impaired glucose tolerance	HP:0040282	ORPHA:96253
546	ATRX	HP:0010461	Abnormality of the male genitalia	HP:0040281	ORPHA:847
546	ATRX	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:847
546	ATRX	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0040281	ORPHA:96253
546	ATRX	HP:0011907	Reduced alpha/beta synthesis ratio	-	OMIM:301040
546	ATRX	HP:0011907	Reduced alpha/beta synthesis ratio	-	OMIM:300448
546	ATRX	HP:0011902	Abnormal hemoglobin	HP:0040282	ORPHA:847
546	ATRX	HP:0011903	HbH hemoglobin	1/1	OMIM:301040
546	ATRX	HP:0011903	HbH hemoglobin	HP:0040281	ORPHA:231401
546	ATRX	HP:0011903	HbH hemoglobin	-	OMIM:300448
546	ATRX	HP:0008221	Adrenal hyperplasia	HP:0040282	ORPHA:96253
546	ATRX	HP:0008291	Pituitary corticotropic cell adenoma	HP:0040281	ORPHA:96253
546	ATRX	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:100075
546	ATRX	HP:0002254	Intermittent diarrhea	HP:0040282	ORPHA:100075
546	ATRX	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:847
546	ATRX	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:847
546	ATRX	HP:0002249	Melena	HP:0040283	ORPHA:100075
546	ATRX	HP:0002248	Hematemesis	HP:0040283	ORPHA:100075
546	ATRX	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:96253
546	ATRX	HP:0011999	Paranoia	HP:0040284	ORPHA:96253
546	ATRX	HP:0004840	Hypochromic microcytic anemia	-	OMIM:301040
546	ATRX	HP:0004840	Hypochromic microcytic anemia	-	OMIM:300448
546	ATRX	HP:0001058	Poor wound healing	HP:0040282	ORPHA:96253
546	ATRX	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:847
546	ATRX	HP:0002381	Aphasia	HP:0040281	ORPHA:847
546	ATRX	HP:0001050	Plethora	HP:0040282	ORPHA:96253
546	ATRX	HP:0025017	Capillary fragility	HP:0040282	ORPHA:96253
546	ATRX	HP:0001065	Striae distensae	HP:0040282	ORPHA:96253
546	ATRX	HP:0001061	Acne	HP:0040282	ORPHA:96253
546	ATRX	HP:0001005	Dermatological manifestations of systemic disorders	HP:0040283	ORPHA:100075
546	ATRX	HP:0001007	Hirsutism	HP:0040282	ORPHA:96253
546	ATRX	HP:0002354	Memory impairment	HP:0040283	ORPHA:96253
546	ATRX	HP:0002315	Headache	HP:0040283	ORPHA:96253
546	ATRX	HP:0025085	Bloody diarrhea	HP:0040283	ORPHA:100075
546	ATRX	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:847
546	ATRX	HP:0010804	Tented upper lip vermilion	-	OMIM:309580
546	ATRX	HP:0010808	Protruding tongue	-	OMIM:301040
546	ATRX	HP:0010808	Protruding tongue	-	OMIM:309580
546	ATRX	HP:0010806	U-Shaped upper lip vermilion	-	OMIM:309580
546	ATRX	HP:0010806	U-Shaped upper lip vermilion	-	OMIM:301040
546	ATRX	HP:0010806	U-Shaped upper lip vermilion	HP:0040282	ORPHA:847
546	ATRX	HP:0200042	Skin ulcer	HP:0040283	ORPHA:96253
546	ATRX	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:96253
546	ATRX	HP:0010741	Pedal edema	HP:0040284	ORPHA:96253
546	ATRX	HP:0002307	Drooling	-	OMIM:309580
546	ATRX	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:847
546	ATRX	HP:0031845	Abnormal libido	HP:0040283	ORPHA:96253
546	ATRX	HP:4000007	Bronchoconstriction	HP:0040284	ORPHA:100075
546	ATRX	HP:0031891	Decreased total eosinophil count	HP:0040282	ORPHA:96253
546	ATRX	HP:0006895	Lower limb hypertonia	-	OMIM:309580
546	ATRX	HP:0006887	Intellectual disability, progressive	-	OMIM:309580
546	ATRX	HP:0001962	Palpitations	HP:0040284	ORPHA:100075
546	ATRX	HP:0000648	Optic atrophy	HP:0040283	ORPHA:847
546	ATRX	HP:0000648	Optic atrophy	-	OMIM:309580
546	ATRX	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:96253
546	ATRX	HP:0000618	Blindness	HP:0040283	ORPHA:847
546	ATRX	HP:0001956	Truncal obesity	HP:0040282	ORPHA:96253
546	ATRX	HP:0001935	Microcytic anemia	HP:0040281	ORPHA:231401
546	ATRX	HP:0001903	Anemia	HP:0040283	ORPHA:847
546	ATRX	HP:0011370	Recurrent cutaneous fungal infections	HP:0040283	ORPHA:96253
546	ATRX	HP:0000699	Diastema	1/1	OMIM:301040
546	ATRX	HP:0011328	Abnormal fontanelle morphology	HP:0040281	ORPHA:847
546	ATRX	HP:0004324	Increased body weight	HP:0040282	ORPHA:96253
546	ATRX	HP:0004322	Short stature	HP:0040282	ORPHA:847
546	ATRX	HP:0004322	Short stature	-	OMIM:309580
546	ATRX	HP:0004385	Protracted diarrhea	HP:0040284	ORPHA:100075
546	ATRX	HP:0004396	Poor appetite	HP:0040282	ORPHA:100075
546	ATRX	HP:0012743	Abdominal obesity	HP:0040282	ORPHA:96253
546	ATRX	HP:0000752	Hyperactivity	-	OMIM:309580
546	ATRX	HP:0012736	Profound global developmental delay	HP:0040281	ORPHA:847
546	ATRX	HP:0100022	Abnormality of movement	HP:0040283	ORPHA:847
546	ATRX	HP:0000733	Motor stereotypy	1/1	OMIM:301040
546	ATRX	HP:0000749	Paroxysmal bursts of laughter	-	OMIM:309580
546	ATRX	HP:0012701	Bowel urgency	HP:0040284	ORPHA:100075
546	ATRX	HP:0000716	Depression	HP:0040283	ORPHA:847
546	ATRX	HP:0000716	Depression	HP:0040283	ORPHA:96253
546	ATRX	HP:0000717	Autism	HP:0040282	ORPHA:847
546	ATRX	HP:0000712	Emotional lability	HP:0040282	ORPHA:96253
546	ATRX	HP:0000726	Dementia	HP:0040284	ORPHA:96253
546	ATRX	HP:0000725	Psychotic episodes	HP:0040283	ORPHA:96253
546	ATRX	HP:0000709	Psychosis	HP:0040284	ORPHA:96253
546	ATRX	HP:0000708	Atypical behavior	HP:0040281	ORPHA:847
546	ATRX	HP:0000708	Atypical behavior	HP:0040282	ORPHA:96253
546	ATRX	HP:0011463	Childhood onset	1/1	OMIM:301040
546	ATRX	HP:0003118	Increased circulating cortisol level	HP:0040281	ORPHA:96253
546	ATRX	HP:0003196	Short nose	-	OMIM:301040
546	ATRX	HP:0003154	Increased circulating ACTH level	HP:0040282	ORPHA:96253
546	ATRX	HP:0003154	Increased circulating ACTH level	HP:0040284	ORPHA:100075
546	ATRX	HP:0003144	Increased serum serotonin	HP:0040284	ORPHA:100075
546	ATRX	HP:0000876	Oligomenorrhea	HP:0040283	ORPHA:96253
546	ATRX	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:96253
546	ATRX	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:96253
546	ATRX	HP:0000822	Hypertension	HP:0040282	ORPHA:96253
546	ATRX	HP:0010284	Intra-oral hyperpigmentation	HP:0040282	ORPHA:96253
546	ATRX	HP:0000979	Purpura	HP:0040283	ORPHA:96253
546	ATRX	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:96253
546	ATRX	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:231401
546	ATRX	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:96253
546	ATRX	HP:0000963	Thin skin	HP:0040282	ORPHA:96253
546	ATRX	HP:0000939	Osteoporosis	HP:0040282	ORPHA:96253
546	ATRX	HP:0011682	Perimembranous ventricular septal defect	-	OMIM:301040
546	ATRX	HP:0000286	Epicanthus	HP:0040282	ORPHA:847
546	ATRX	HP:0000286	Epicanthus	-	OMIM:309580
546	ATRX	HP:0000286	Epicanthus	1/1	OMIM:301040
546	ATRX	HP:0000280	Coarse facial features	-	OMIM:309580
546	ATRX	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:847
546	ATRX	HP:0000272	Malar flattening	-	OMIM:309580
546	ATRX	HP:0000272	Malar flattening	-	OMIM:301040
546	ATRX	HP:0000268	Dolichocephaly	-	OMIM:309580
546	ATRX	HP:0030084	Clinodactyly	-	OMIM:309580
546	ATRX	HP:0030084	Clinodactyly	-	OMIM:301040
546	ATRX	HP:0002808	Kyphosis	1/1	OMIM:301040
546	ATRX	HP:0001566	Widely-spaced maxillary central incisors	-	OMIM:309580
546	ATRX	HP:0001566	Widely-spaced maxillary central incisors	-	OMIM:301040
546	ATRX	HP:0000252	Microcephaly	HP:0040281	ORPHA:847
546	ATRX	HP:0000252	Microcephaly	-	OMIM:309580
546	ATRX	HP:0000252	Microcephaly	-	OMIM:301040
546	ATRX	HP:0000219	Thin upper lip vermilion	-	OMIM:309580
546	ATRX	HP:0000218	High palate	-	OMIM:309580
546	ATRX	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:847
546	ATRX	HP:0002857	Genu valgum	-	OMIM:309580
546	ATRX	HP:0001522	Death in infancy	HP:0040283	ORPHA:847
546	ATRX	HP:0001537	Umbilical hernia	-	OMIM:301040
546	ATRX	HP:0002863	Myelodysplasia	-	OMIM:300448
546	ATRX	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:231401
546	ATRX	HP:0031364	Ecchymosis	HP:0040283	ORPHA:96253
546	ATRX	HP:0001510	Growth delay	-	OMIM:301040
546	ATRX	HP:0001513	Obesity	HP:0040283	OMIM:309580
546	ATRX	HP:0007807	Optic nerve compression	HP:0040284	ORPHA:96253
546	ATRX	HP:0012378	Fatigue	HP:0040281	ORPHA:231401
546	ATRX	HP:0012368	Flat face	HP:0040281	ORPHA:847
546	ATRX	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040282	ORPHA:96253
546	ATRX	HP:0002937	Hemivertebrae	-	OMIM:301040
546	ATRX	HP:0001612	Weak cry	1/1	OMIM:301040
546	ATRX	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:100075
546	ATRX	HP:0005180	Tricuspid regurgitation	HP:0040284	ORPHA:100075
546	ATRX	HP:0000358	Posteriorly rotated ears	-	OMIM:309580
546	ATRX	HP:0000358	Posteriorly rotated ears	-	OMIM:301040
546	ATRX	HP:0000369	Low-set ears	-	OMIM:309580
546	ATRX	HP:0000369	Low-set ears	1/1	OMIM:301040
546	ATRX	HP:0000341	Narrow forehead	-	OMIM:309580
546	ATRX	HP:0000347	Micrognathia	-	OMIM:309580
546	ATRX	HP:0000316	Hypertelorism	HP:0040281	ORPHA:847
546	ATRX	HP:0000316	Hypertelorism	-	OMIM:309580
546	ATRX	HP:0000316	Hypertelorism	1/1	OMIM:301040
546	ATRX	HP:0030149	Cardiogenic shock	HP:0040284	ORPHA:100075
546	ATRX	HP:0030145	Lack of bowel sounds	HP:0040283	ORPHA:100075
546	ATRX	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:96253
546	ATRX	HP:0001629	Ventricular septal defect	-	OMIM:301040
546	ATRX	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:96253
546	ATRX	HP:0002953	Vertebral compression fracture	HP:0040283	ORPHA:96253
546	ATRX	HP:0000303	Mandibular prognathia	1/1	OMIM:301040
546	ATRX	HP:0005326	Hypoplastic philtrum	-	OMIM:309580
546	ATRX	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:847
546	ATRX	HP:0000407	Sensorineural hearing impairment	-	OMIM:309580
546	ATRX	HP:0000407	Sensorineural hearing impairment	-	OMIM:301040
546	ATRX	HP:0001708	Right ventricular failure	HP:0040284	ORPHA:100075
546	ATRX	HP:0005280	Depressed nasal bridge	-	OMIM:309580
546	ATRX	HP:0005280	Depressed nasal bridge	1/1	OMIM:301040
546	ATRX	HP:0012471	Thick vermilion border	1/1	OMIM:301040
546	ATRX	HP:0000463	Anteverted nares	HP:0040282	ORPHA:847
546	ATRX	HP:0000463	Anteverted nares	-	OMIM:309580
546	ATRX	HP:0000463	Anteverted nares	1/1	OMIM:301040
546	ATRX	HP:0031566	Abnormal pulmonary valve cusp morphology	HP:0040284	ORPHA:100075
546	ATRX	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:847
546	ATRX	HP:0000470	Short neck	-	OMIM:309580
546	ATRX	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:96253
546	ATRX	HP:0001763	Pes planus	-	OMIM:309580
546	ATRX	HP:0000451	Triangular nasal tip	-	OMIM:309580
546	ATRX	HP:0001744	Splenomegaly	HP:0040283	ORPHA:231401
546	ATRX	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:847
546	ATRX	HP:0001762	Talipes equinovarus	-	OMIM:309580
546	ATRX	HP:0001762	Talipes equinovarus	-	OMIM:301040
546	ATRX	HP:0000431	Wide nasal bridge	-	OMIM:309580
546	ATRX	HP:0030446	Atypical pulmonary carcinoid tumor	HP:0040283	ORPHA:100075
546	ATRX	HP:0001824	Weight loss	HP:0040282	ORPHA:100075
546	ATRX	HP:0000506	Telecanthus	HP:0040282	ORPHA:847
546	ATRX	HP:0000508	Ptosis	-	OMIM:309580
546	ATRX	HP:0000582	Upslanted palpebral fissure	-	OMIM:309580
546	ATRX	HP:0000577	Exotropia	-	OMIM:309580
546	ATRX	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:231401
546	ATRX	HP:0001891	Iron deficiency anemia	HP:0040282	ORPHA:100075
546	ATRX	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:96253
546	ATRX	HP:0001884	Talipes calcaneovalgus	-	OMIM:309580
546	ATRX	HP:0001871	Abnormality of blood and blood-forming tissues	-	OMIM:309580
546	ATRX	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:231401
546	ATRX	HP:0000545	Myopia	HP:0040283	ORPHA:847
546	ATRX	HP:0001875	Decreased total neutrophil count	HP:0040281	ORPHA:231401
547	KIF1A	HP:0001182	Tapered finger	HP:0040281	ORPHA:970
547	KIF1A	HP:0007210	Lower limb amyotrophy	HP:0040282	OMIM:610357
547	KIF1A	HP:0001290	Generalized hypotonia	-	OMIM:201300
547	KIF1A	HP:0001290	Generalized hypotonia	HP:0040283	OMIM:614255
547	KIF1A	HP:0001272	Cerebellar atrophy	-	OMIM:610357
547	KIF1A	HP:0001272	Cerebellar atrophy	9/14	OMIM:614255
547	KIF1A	HP:0001284	Areflexia	-	OMIM:201300
547	KIF1A	HP:0001250	Seizure	3/13	OMIM:614255
547	KIF1A	HP:0001252	Hypotonia	-	OMIM:201300
547	KIF1A	HP:0001251	Ataxia	HP:0040282	ORPHA:101010
547	KIF1A	HP:0001251	Ataxia	HP:0040282	OMIM:610357
547	KIF1A	HP:0001251	Ataxia	3/12	OMIM:614255
547	KIF1A	HP:0001249	Intellectual disability	1/8	OMIM:614213
547	KIF1A	HP:0001249	Intellectual disability	15/15	OMIM:614255
547	KIF1A	HP:0001265	Hyporeflexia	-	OMIM:201300
547	KIF1A	HP:0001265	Hyporeflexia	-	OMIM:614213
547	KIF1A	HP:0001263	Global developmental delay	1/3	OMIM:614213
547	KIF1A	HP:0001263	Global developmental delay	14/14	OMIM:614255
547	KIF1A	HP:0001258	Spastic paraplegia	-	OMIM:610357
547	KIF1A	HP:0001257	Spasticity	13/14	OMIM:614255
547	KIF1A	HP:0007340	Lower limb muscle weakness	HP:0040282	OMIM:610357
547	KIF1A	HP:0002540	Inability to walk	HP:0040283	OMIM:614255
547	KIF1A	HP:0002522	Areflexia of lower limbs	2/3	OMIM:614213
547	KIF1A	HP:0001371	Flexion contracture	HP:0040283	OMIM:614255
547	KIF1A	HP:0001347	Hyperreflexia	-	OMIM:610357
547	KIF1A	HP:0001347	Hyperreflexia	-	OMIM:614255
547	KIF1A	HP:0008872	Feeding difficulties in infancy	-	OMIM:201300
547	KIF1A	HP:0007460	Autoamputation of digits	-	OMIM:201300
547	KIF1A	HP:0007460	Autoamputation of digits	7/8	OMIM:614213
547	KIF1A	HP:0006121	Acral ulceration	8/8	OMIM:614213
547	KIF1A	HP:0006121	Acral ulceration	-	OMIM:201300
547	KIF1A	HP:0002661	Painless fractures due to injury	-	OMIM:201300
547	KIF1A	HP:0001344	Absent speech	4/14	OMIM:614255
547	KIF1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:610357
547	KIF1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:201300
547	KIF1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:614213
547	KIF1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:610357
547	KIF1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:614255
547	KIF1A	HP:0033748	Hypoesthesia	1/3	OMIM:614213
547	KIF1A	HP:0001310	Dysmetria	HP:0040282	OMIM:610357
547	KIF1A	HP:0002645	Wormian bones	HP:0040281	ORPHA:970
547	KIF1A	HP:0002797	Osteolysis	HP:0040281	ORPHA:970
547	KIF1A	HP:0008969	Leg muscle stiffness	HP:0040281	ORPHA:101010
547	KIF1A	HP:0008954	Intrinsic hand muscle atrophy	1/3	OMIM:614213
547	KIF1A	HP:0008936	Axial hypotonia	1/1	OMIM:614255
547	KIF1A	HP:0002020	Gastroesophageal reflux	-	OMIM:201300
547	KIF1A	HP:0003307	Hyperlordosis	HP:0040281	ORPHA:970
547	KIF1A	HP:0002064	Spastic gait	-	OMIM:610357
547	KIF1A	HP:0002064	Spastic gait	HP:0040281	ORPHA:101010
547	KIF1A	HP:0002061	Lower limb spasticity	-	OMIM:610357
547	KIF1A	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:101010
547	KIF1A	HP:0002059	Cerebral atrophy	6/14	OMIM:614255
547	KIF1A	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:201300
547	KIF1A	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:970
547	KIF1A	HP:0003477	Peripheral axonal neuropathy	HP:0040282	OMIM:610357
547	KIF1A	HP:0003477	Peripheral axonal neuropathy	7/14	OMIM:614255
547	KIF1A	HP:0003474	Somatic sensory dysfunction	HP:0040282	ORPHA:101010
547	KIF1A	HP:0003487	Babinski sign	HP:0040281	ORPHA:101010
547	KIF1A	HP:0003487	Babinski sign	-	OMIM:610357
547	KIF1A	HP:0003487	Babinski sign	-	OMIM:614255
547	KIF1A	HP:0003448	Decreased sensory nerve conduction velocity	-	OMIM:201300
547	KIF1A	HP:0003593	Infantile onset	-	OMIM:201300
547	KIF1A	HP:0003577	Congenital onset	1/8	OMIM:614213
547	KIF1A	HP:0100704	Cerebral visual impairment	HP:0040283	OMIM:614255
547	KIF1A	HP:0007020	Progressive spastic paraplegia	HP:0040281	ORPHA:101010
547	KIF1A	HP:0008391	Dystrophic fingernails	HP:0040281	ORPHA:970
547	KIF1A	HP:0001069	Episodic hyperhidrosis	-	OMIM:201300
547	KIF1A	HP:0002395	Lower limb hyperreflexia	HP:0040281	ORPHA:101010
547	KIF1A	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:101010
547	KIF1A	HP:0003676	Progressive	-	OMIM:614213
547	KIF1A	HP:0003676	Progressive	-	OMIM:614255
547	KIF1A	HP:0003677	Slowly progressive	-	OMIM:610357
547	KIF1A	HP:0003677	Slowly progressive	-	OMIM:201300
547	KIF1A	HP:0002317	Unsteady gait	HP:0040281	ORPHA:101010
547	KIF1A	HP:0009830	Peripheral neuropathy	-	OMIM:201300
547	KIF1A	HP:0009830	Peripheral neuropathy	-	OMIM:614213
547	KIF1A	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:101010
547	KIF1A	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:201300
547	KIF1A	HP:0003621	Juvenile onset	7/8	OMIM:614213
547	KIF1A	HP:0006858	Impaired distal proprioception	6/8	OMIM:614213
547	KIF1A	HP:0006855	Cerebellar vermis atrophy	1/1	OMIM:614255
547	KIF1A	HP:0006886	Impaired distal vibration sensation	6/8	OMIM:614213
547	KIF1A	HP:0000639	Nystagmus	HP:0040283	OMIM:614255
547	KIF1A	HP:0000648	Optic atrophy	9/14	OMIM:614255
547	KIF1A	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:201300
547	KIF1A	HP:0009053	Distal lower limb muscle weakness	8/8	OMIM:614213
547	KIF1A	HP:0009027	Foot dorsiflexor weakness	4/4	OMIM:614213
547	KIF1A	HP:0004322	Short stature	1/3	OMIM:614213
547	KIF1A	HP:0003028	Abnormality of the ankle	HP:0040281	ORPHA:970
547	KIF1A	HP:0004349	Reduced bone mineral density	HP:0040281	ORPHA:970
547	KIF1A	HP:0000762	Decreased nerve conduction velocity	-	OMIM:201300
547	KIF1A	HP:0000750	Delayed speech and language development	11/14	OMIM:614255
547	KIF1A	HP:0011448	Ankle clonus	-	OMIM:610357
547	KIF1A	HP:0003103	Abnormal cortical bone morphology	HP:0040281	ORPHA:970
547	KIF1A	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:970
547	KIF1A	HP:0003272	Abnormal hip bone morphology	HP:0040281	ORPHA:970
547	KIF1A	HP:0008000	Decreased corneal reflex	-	OMIM:201300
547	KIF1A	HP:0100275	Diffuse cerebellar atrophy	HP:0040283	ORPHA:101010
547	KIF1A	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:970
547	KIF1A	HP:0000970	Anhidrosis	-	OMIM:201300
547	KIF1A	HP:0034353	Appendicular spasticity	1/1	OMIM:614255
547	KIF1A	HP:0002815	Abnormality of the knee	HP:0040281	ORPHA:970
547	KIF1A	HP:0000252	Microcephaly	4/14	OMIM:614255
547	KIF1A	HP:0000224	Hypogeusia	-	OMIM:201300
547	KIF1A	HP:0002839	Urinary bladder sphincter dysfunction	-	OMIM:610357
547	KIF1A	HP:0002936	Distal sensory impairment	HP:0040282	ORPHA:101010
547	KIF1A	HP:0012407	Scissor gait	HP:0040282	ORPHA:101010
547	KIF1A	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:614255
547	KIF1A	HP:0001842	Foot acroosteolysis	HP:0040281	ORPHA:970
547	KIF1A	HP:0001842	Foot acroosteolysis	-	OMIM:201300
547	KIF1A	HP:0001818	Paronychia	-	OMIM:201300
547	KIF1A	HP:0001810	Dystrophic toenail	HP:0040281	ORPHA:970
547	KIF1A	HP:0000570	Abnormal saccadic eye movements	HP:0040282	ORPHA:101010
549	AUH	HP:6000577	Reduced tissue 3-methylglutaconyl-CoA hydratase activity	2/2	OMIM:250950
549	AUH	HP:0001270	Motor delay	-	OMIM:250950
549	AUH	HP:0001285	Spastic tetraparesis	HP:0040283	ORPHA:67046
549	AUH	HP:0001250	Seizure	HP:0040283	ORPHA:67046
549	AUH	HP:0001251	Ataxia	3/10	OMIM:250950
549	AUH	HP:0001260	Dysarthria	-	OMIM:250950
549	AUH	HP:0001263	Global developmental delay	HP:0040282	ORPHA:67046
549	AUH	HP:0001263	Global developmental delay	4/20	OMIM:250950
549	AUH	HP:0001257	Spasticity	2/10	OMIM:250950
549	AUH	HP:0001259	Coma	HP:0040283	ORPHA:67046
549	AUH	HP:0002510	Spastic tetraplegia	-	OMIM:250950
549	AUH	HP:0002500	Abnormal cerebral white matter morphology	4/6	OMIM:250950
549	AUH	HP:0000020	Urinary incontinence	-	OMIM:250950
549	AUH	HP:0001347	Hyperreflexia	-	OMIM:250950
549	AUH	HP:0001332	Dystonia	-	OMIM:250950
549	AUH	HP:0001332	Dystonia	HP:0040283	ORPHA:67046
549	AUH	HP:0000007	Autosomal recessive inheritance	-	OMIM:250950
549	AUH	HP:0100543	Cognitive impairment	-	OMIM:250950
549	AUH	HP:0002073	Progressive cerebellar ataxia	HP:0040283	ORPHA:67046
549	AUH	HP:0002059	Cerebral atrophy	-	OMIM:250950
549	AUH	HP:0002134	Abnormal basal ganglia morphology	HP:0040283	ORPHA:67046
549	AUH	HP:0003593	Infantile onset	7/10	OMIM:250950
549	AUH	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:67046
549	AUH	HP:0003581	Adult onset	3/10	OMIM:250950
549	AUH	HP:0003535	3-Methylglutaconic aciduria	10/10	OMIM:250950
549	AUH	HP:0003535	3-Methylglutaconic aciduria	HP:0040281	ORPHA:67046
549	AUH	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	-	OMIM:250950
549	AUH	HP:0002352	Leukoencephalopathy	-	OMIM:250950
549	AUH	HP:0002305	Athetosis	1/10	OMIM:250950
549	AUH	HP:0000648	Optic atrophy	1/10	OMIM:250950
549	AUH	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:67046
549	AUH	HP:0001942	Metabolic acidosis	-	OMIM:250950
549	AUH	HP:0000736	Short attention span	-	OMIM:250950
549	AUH	HP:0000750	Delayed speech and language development	4/10	OMIM:250950
549	AUH	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:67046
549	AUH	HP:0000742	Self-mutilation	1/10	OMIM:250950
549	AUH	HP:0000726	Dementia	2/10	OMIM:250950
549	AUH	HP:0000252	Microcephaly	HP:0040283	ORPHA:67046
549	AUH	HP:0001508	Failure to thrive	-	OMIM:250950
549	AUH	HP:0001508	Failure to thrive	HP:0040281	ORPHA:67046
551	AVP	HP:0001254	Lethargy	HP:0040282	ORPHA:30925
551	AVP	HP:0000006	Autosomal dominant inheritance	-	OMIM:125700
551	AVP	HP:0002014	Diarrhea	HP:0040282	ORPHA:30925
551	AVP	HP:0002013	Vomiting	HP:0040282	ORPHA:30925
551	AVP	HP:0002171	Gliosis	-	OMIM:125700
551	AVP	HP:0001945	Fever	HP:0040282	ORPHA:30925
551	AVP	HP:0001959	Polydipsia	HP:0040281	ORPHA:30925
551	AVP	HP:0000737	Irritability	HP:0040282	ORPHA:30925
551	AVP	HP:0003196	Short nose	-	OMIM:125700
551	AVP	HP:0000873	Diabetes insipidus	HP:0040281	ORPHA:30925
551	AVP	HP:0000863	Central diabetes insipidus	-	OMIM:125700
551	AVP	HP:0000938	Osteopenia	-	OMIM:125700
551	AVP	HP:0001510	Growth delay	HP:0040282	ORPHA:30925
551	AVP	HP:0031429	Decreased circulating osteocalcin level	-	OMIM:125700
551	AVP	HP:0000343	Long philtrum	-	OMIM:125700
551	AVP	HP:0000316	Hypertelorism	-	OMIM:125700
551	AVP	HP:0000445	Wide nose	-	OMIM:125700
551	AVP	HP:0001824	Weight loss	HP:0040282	ORPHA:30925
554	AVPR2	HP:0001250	Seizure	HP:0040283	ORPHA:223
554	AVPR2	HP:0001250	Seizure	-	OMIM:304800
554	AVPR2	HP:0001249	Intellectual disability	-	OMIM:304800
554	AVPR2	HP:0001263	Global developmental delay	HP:0040284	ORPHA:223
554	AVPR2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:223
554	AVPR2	HP:0000072	Hydroureter	HP:0040283	ORPHA:223
554	AVPR2	HP:0000021	Megacystis	-	OMIM:304800
554	AVPR2	HP:0008872	Feeding difficulties in infancy	-	OMIM:304800
554	AVPR2	HP:0000009	Functional abnormality of the bladder	HP:0040283	ORPHA:223
554	AVPR2	HP:0012101	Decreased serum creatinine	1/2	OMIM:300539
554	AVPR2	HP:0000103	Polyuria	3/3	OMIM:304800
554	AVPR2	HP:0001419	X-linked recessive inheritance	-	OMIM:304800
554	AVPR2	HP:0001419	X-linked recessive inheritance	-	OMIM:300539
554	AVPR2	HP:0003351	Decreased circulating renin concentration	2/2	OMIM:300539
554	AVPR2	HP:0002019	Constipation	HP:0040282	ORPHA:223
554	AVPR2	HP:0002019	Constipation	-	OMIM:304800
554	AVPR2	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:223
554	AVPR2	HP:0002013	Vomiting	-	OMIM:304800
554	AVPR2	HP:0002039	Anorexia	HP:0040282	ORPHA:223
554	AVPR2	HP:0002197	Generalized-onset seizure	1/2	OMIM:300539
554	AVPR2	HP:0003593	Infantile onset	2/2	OMIM:300539
554	AVPR2	HP:0003577	Congenital onset	3/3	OMIM:304800
554	AVPR2	HP:0010677	Enuresis nocturna	HP:0040284	ORPHA:223
554	AVPR2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:223
554	AVPR2	HP:0009806	Nephrogenic diabetes insipidus	HP:0040280	ORPHA:223
554	AVPR2	HP:0003623	Neonatal onset	-	OMIM:304800
554	AVPR2	HP:0004906	Hypernatremic dehydration	HP:0040281	ORPHA:223
554	AVPR2	HP:0012605	Hypernatriuria	2/2	OMIM:300539
554	AVPR2	HP:0001945	Fever	HP:0040282	ORPHA:223
554	AVPR2	HP:0001959	Polydipsia	HP:0040282	ORPHA:223
554	AVPR2	HP:0001959	Polydipsia	3/3	OMIM:304800
554	AVPR2	HP:0001955	Unexplained fevers	-	OMIM:304800
554	AVPR2	HP:0001986	Hypertonic dehydration	-	OMIM:304800
554	AVPR2	HP:0004322	Short stature	HP:0040283	ORPHA:223
554	AVPR2	HP:0004322	Short stature	-	OMIM:304800
554	AVPR2	HP:0031969	Reduced blood urea nitrogen	2/2	OMIM:300539
554	AVPR2	HP:0000737	Irritability	-	OMIM:304800
554	AVPR2	HP:0000737	Irritability	1/2	OMIM:300539
554	AVPR2	HP:0004421	Elevated systolic blood pressure	2/2	OMIM:300539
554	AVPR2	HP:0003158	Hyposthenuria	HP:0040281	ORPHA:223
554	AVPR2	HP:0003158	Hyposthenuria	1/2	OMIM:300539
554	AVPR2	HP:0000873	Diabetes insipidus	3/3	OMIM:304800
554	AVPR2	HP:0040085	Abnormal circulating aldosterone concentration	0/2	OMIM:300539
554	AVPR2	HP:0003228	Hypernatremia	HP:0040281	ORPHA:223
554	AVPR2	HP:0003228	Hypernatremia	-	OMIM:304800
554	AVPR2	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:223
554	AVPR2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:223
554	AVPR2	HP:0001508	Failure to thrive	-	OMIM:304800
554	AVPR2	HP:0001510	Growth delay	HP:0040283	ORPHA:223
554	AVPR2	HP:0002902	Hyponatremia	2/2	OMIM:300539
554	AVPR2	HP:0011106	Hypovolemia	HP:0040283	ORPHA:223
558	AXL	HP:0008734	Decreased testicular size	1/1	OMIM:146110
558	AXL	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
558	AXL	HP:0000054	Micropenis	1/1	OMIM:146110
558	AXL	HP:0000028	Cryptorchidism	-	OMIM:146110
558	AXL	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
558	AXL	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
558	AXL	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
558	AXL	HP:0003621	Juvenile onset	2/2	OMIM:146110
558	AXL	HP:0000771	Gynecomastia	0/1	OMIM:146110
558	AXL	HP:0000789	Infertility	HP:0040283	OMIM:146110
558	AXL	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
558	AXL	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
567	B2M	HP:0410243	Abnormal circulating IgM concentration	0/2	OMIM:241600
567	B2M	HP:0410240	Abnormal circulating IgA concentration	0/2	OMIM:241600
567	B2M	HP:0001278	Orthostatic hypotension	1/1	OMIM:620659
567	B2M	HP:0001271	Polyneuropathy	1/1	OMIM:620659
567	B2M	HP:0410299	Decreased specific antibody response to polysaccharide vaccine	2/2	OMIM:241600
567	B2M	HP:0010976	Decreased total B cell count	1/2	OMIM:241600
567	B2M	HP:0033670	Organizing pneumonia	1/2	OMIM:241600
567	B2M	HP:0012065	Multiple bony cystic lesions	HP:0040283	ORPHA:314652
567	B2M	HP:0025347	Decreased circulating beta-2-microglobulin level	4/4	OMIM:241600
567	B2M	HP:0000007	Autosomal recessive inheritance	-	OMIM:241600
567	B2M	HP:0000006	Autosomal dominant inheritance	-	OMIM:620659
567	B2M	HP:0012185	Constrictive median neuropathy	HP:0040282	ORPHA:314652
567	B2M	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:314652
567	B2M	HP:0001482	Subcutaneous nodule	1/2	OMIM:241600
567	B2M	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:314652
567	B2M	HP:0003365	Arthralgia of the hip	HP:0040283	ORPHA:314652
567	B2M	HP:0002028	Chronic diarrhea	3/3	OMIM:620659
567	B2M	HP:0011805	Abnormal skeletal muscle morphology	HP:0040283	ORPHA:314652
567	B2M	HP:0002094	Dyspnea	0/1	OMIM:620659
567	B2M	HP:0002110	Bronchiectasis	2/2	OMIM:241600
567	B2M	HP:0011915	Cardiovascular calcification	HP:0040283	ORPHA:314652
567	B2M	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:314652
567	B2M	HP:0002205	Recurrent respiratory infections	-	OMIM:241600
567	B2M	HP:0025015	Abnormal vascular morphology	HP:0040283	ORPHA:314652
567	B2M	HP:0025044	Lung abscess	1/2	OMIM:241600
567	B2M	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:314652
567	B2M	HP:0003621	Juvenile onset	1/2	OMIM:241600
567	B2M	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:314652
567	B2M	HP:0001917	Renal amyloidosis	HP:0040282	ORPHA:314652
567	B2M	HP:0012664	Reduced left ventricular ejection fraction	HP:0040283	ORPHA:314652
567	B2M	HP:0004315	Decreased circulating IgG concentration	4/4	OMIM:241600
567	B2M	HP:0003075	Hypoproteinemia	2/2	OMIM:241600
567	B2M	HP:0003073	Hypoalbuminemia	4/4	OMIM:241600
567	B2M	HP:0003022	Hypoplasia of the ulna	-	OMIM:241600
567	B2M	HP:0010286	Abnormal salivary gland morphology	HP:0040283	ORPHA:314652
567	B2M	HP:0040218	Reduced total natural killer cell count	1/2	OMIM:241600
567	B2M	HP:0030839	Knee pain	HP:0040283	ORPHA:314652
567	B2M	HP:0030836	Wrist pain	HP:0040283	ORPHA:314652
567	B2M	HP:0030834	Shoulder pain	HP:0040283	ORPHA:314652
567	B2M	HP:0030843	Cardiac amyloidosis	1/1	OMIM:620659
567	B2M	HP:0030843	Cardiac amyloidosis	HP:0040283	ORPHA:314652
567	B2M	HP:0000969	Edema	0/1	OMIM:620659
567	B2M	HP:0100292	Amyloidosis of peripheral nerves	4/4	OMIM:620659
567	B2M	HP:0100292	Amyloidosis of peripheral nerves	HP:0040283	ORPHA:314652
567	B2M	HP:0012280	Hepatic amyloidosis	1/1	OMIM:620659
567	B2M	HP:0012280	Hepatic amyloidosis	HP:0040283	ORPHA:314652
567	B2M	HP:0031368	Intestinal perforation	HP:0040283	ORPHA:314652
567	B2M	HP:0005244	Gastrointestinal infarctions	HP:0040283	ORPHA:314652
567	B2M	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:314652
567	B2M	HP:0012309	Cutaneous amyloidosis	HP:0040283	ORPHA:314652
567	B2M	HP:0002986	Radial bowing	-	OMIM:241600
567	B2M	HP:0012450	Chronic constipation	1/1	OMIM:620659
567	B2M	HP:0025708	Early young adult onset	1/2	OMIM:241600
567	B2M	HP:0001824	Weight loss	2/3	OMIM:620659
570	BAAT	HP:0001399	Hepatic failure	1/7	OMIM:619232
570	BAAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:619232
570	BAAT	HP:0002748	Rickets	2/7	OMIM:619232
570	BAAT	HP:0003593	Infantile onset	3/7	OMIM:619232
570	BAAT	HP:0002240	Hepatomegaly	1/7	OMIM:619232
570	BAAT	HP:0003621	Juvenile onset	3/7	OMIM:619232
570	BAAT	HP:0031956	Elevated circulating aspartate aminotransferase concentration	3/7	OMIM:619232
570	BAAT	HP:0031964	Elevated circulating alanine aminotransferase concentration	3/7	OMIM:619232
570	BAAT	HP:0011463	Childhood onset	1/7	OMIM:619232
570	BAAT	HP:0000952	Jaundice	7/7	OMIM:619232
570	BAAT	HP:0002908	Conjugated hyperbilirubinemia	1/7	OMIM:619232
579	NKX3-2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
579	NKX3-2	HP:0001293	Cranial nerve compression	-	OMIM:131300
579	NKX3-2	HP:0001270	Motor delay	1/3	OMIM:613330
579	NKX3-2	HP:0001288	Gait disturbance	1/3	OMIM:613330
579	NKX3-2	HP:0001252	Hypotonia	2/7	OMIM:615777
579	NKX3-2	HP:0001249	Intellectual disability	5/7	OMIM:615777
579	NKX3-2	HP:0001263	Global developmental delay	-	OMIM:615777
579	NKX3-2	HP:0031096	Delayed vertebral ossification	3/3	OMIM:613330
579	NKX3-2	HP:0002515	Waddling gait	54/102	OMIM:131300
579	NKX3-2	HP:0001371	Flexion contracture	-	OMIM:613330
579	NKX3-2	HP:0001382	Joint hypermobility	-	OMIM:615777
579	NKX3-2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
579	NKX3-2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
579	NKX3-2	HP:0008788	Delayed pubic bone ossification	3/3	OMIM:613330
579	NKX3-2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
579	NKX3-2	HP:0001324	Muscle weakness	40/96	OMIM:131300
579	NKX3-2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
579	NKX3-2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613330
579	NKX3-2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
579	NKX3-2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
579	NKX3-2	HP:0002650	Scoliosis	12/14	OMIM:131300
579	NKX3-2	HP:0002650	Scoliosis	1/3	OMIM:613330
579	NKX3-2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
579	NKX3-2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
579	NKX3-2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
579	NKX3-2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
579	NKX3-2	HP:0000175	Cleft palate	2/7	OMIM:615777
579	NKX3-2	HP:0002751	Kyphoscoliosis	1/3	OMIM:613330
579	NKX3-2	HP:0003316	Butterfly vertebrae	3/3	OMIM:613330
579	NKX3-2	HP:0003388	Easy fatigability	36/76	OMIM:131300
579	NKX3-2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
579	NKX3-2	HP:0003418	Back pain	1/3	OMIM:613330
579	NKX3-2	HP:0009623	Proximal placement of thumb	1/3	OMIM:613330
579	NKX3-2	HP:0010580	Enlarged epiphyses	-	OMIM:613330
579	NKX3-2	HP:0003577	Congenital onset	3/3	OMIM:613330
579	NKX3-2	HP:0003510	Severe short stature	7/7	OMIM:615777
579	NKX3-2	HP:0003521	Disproportionate short-trunk short stature	3/3	OMIM:613330
579	NKX3-2	HP:0002315	Headache	-	OMIM:131300
579	NKX3-2	HP:0004976	Knee dislocation	6/7	OMIM:615777
579	NKX3-2	HP:0009803	Short phalanx of finger	-	OMIM:615777
579	NKX3-2	HP:0009763	Limb pain	63/92	OMIM:131300
579	NKX3-2	HP:0003621	Juvenile onset	-	OMIM:131300
579	NKX3-2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
579	NKX3-2	HP:0004288	Pseudoepiphyses of hand bones	3/3	OMIM:613330
579	NKX3-2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
579	NKX3-2	HP:6001056	Out-toeing	-	OMIM:131300
579	NKX3-2	HP:0000651	Diplopia	-	OMIM:131300
579	NKX3-2	HP:0001956	Truncal obesity	2/7	OMIM:615777
579	NKX3-2	HP:0001903	Anemia	HP:0040283	OMIM:131300
579	NKX3-2	HP:0010049	Short metacarpal	-	OMIM:615777
579	NKX3-2	HP:0000678	Dental crowding	-	OMIM:615777
579	NKX3-2	HP:0000670	Carious teeth	-	OMIM:131300
579	NKX3-2	HP:0011304	Broad thumb	2/7	OMIM:615777
579	NKX3-2	HP:0000668	Hypodontia	-	OMIM:615777
579	NKX3-2	HP:0000664	Synophrys	-	OMIM:615777
579	NKX3-2	HP:0005659	Thoracic kyphoscoliosis	1/3	OMIM:613330
579	NKX3-2	HP:0004396	Poor appetite	-	OMIM:131300
579	NKX3-2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
579	NKX3-2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
579	NKX3-2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
579	NKX3-2	HP:0003026	Short long bone	7/7	OMIM:615777
579	NKX3-2	HP:0003025	Metaphyseal irregularity	3/3	OMIM:613330
579	NKX3-2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
579	NKX3-2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
579	NKX3-2	HP:0000768	Pectus carinatum	1/3	OMIM:613330
579	NKX3-2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
579	NKX3-2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
579	NKX3-2	HP:0000750	Delayed speech and language development	-	OMIM:615777
579	NKX3-2	HP:0011461	Fetal onset	7/7	OMIM:615777
579	NKX3-2	HP:0000774	Narrow chest	2/7	OMIM:615777
579	NKX3-2	HP:0000773	Short ribs	-	OMIM:613330
579	NKX3-2	HP:0000926	Platyspondyly	1/7	OMIM:615777
579	NKX3-2	HP:0003180	Flat acetabular roof	-	OMIM:615777
579	NKX3-2	HP:0004482	Relative macrocephaly	-	OMIM:615777
579	NKX3-2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
579	NKX3-2	HP:0000823	Delayed puberty	-	OMIM:131300
579	NKX3-2	HP:0000894	Short clavicles	-	OMIM:615777
579	NKX3-2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
579	NKX3-2	HP:0100255	Metaphyseal dysplasia	-	OMIM:613330
579	NKX3-2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
579	NKX3-2	HP:0000946	Hypoplastic ilia	-	OMIM:613330
579	NKX3-2	HP:0000286	Epicanthus	1/7	OMIM:615777
579	NKX3-2	HP:0000280	Coarse facial features	2/7	OMIM:615777
579	NKX3-2	HP:0000256	Macrocephaly	-	OMIM:613330
579	NKX3-2	HP:0002812	Coxa vara	3/3	OMIM:613330
579	NKX3-2	HP:0002827	Hip dislocation	1/3	OMIM:613330
579	NKX3-2	HP:0002827	Hip dislocation	3/7	OMIM:615777
579	NKX3-2	HP:0000238	Hydrocephalus	1/3	OMIM:613330
579	NKX3-2	HP:0000252	Microcephaly	1/3	OMIM:613330
579	NKX3-2	HP:0000252	Microcephaly	-	OMIM:615777
579	NKX3-2	HP:0002857	Genu valgum	-	OMIM:131300
579	NKX3-2	HP:0002857	Genu valgum	-	OMIM:613330
579	NKX3-2	HP:0001538	Protuberant abdomen	-	OMIM:613330
579	NKX3-2	HP:0001533	Slender build	-	OMIM:131300
579	NKX3-2	HP:0002866	Hypoplastic iliac wing	3/3	OMIM:613330
579	NKX3-2	HP:0001518	Small for gestational age	1/3	OMIM:613330
579	NKX3-2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
579	NKX3-2	HP:0007807	Optic nerve compression	-	OMIM:131300
579	NKX3-2	HP:0012368	Flat face	7/7	OMIM:615777
579	NKX3-2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
579	NKX3-2	HP:0000365	Hearing impairment	10/67	OMIM:131300
579	NKX3-2	HP:0000343	Long philtrum	1/7	OMIM:615777
579	NKX3-2	HP:0011001	Increased bone mineral density	-	OMIM:131300
579	NKX3-2	HP:0000316	Hypertelorism	-	OMIM:613330
579	NKX3-2	HP:0000311	Round face	2/7	OMIM:615777
579	NKX3-2	HP:0002970	Genu varum	-	OMIM:613330
579	NKX3-2	HP:0002970	Genu varum	-	OMIM:615777
579	NKX3-2	HP:0000303	Mandibular prognathia	-	OMIM:131300
579	NKX3-2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
579	NKX3-2	HP:0000470	Short neck	3/3	OMIM:613330
579	NKX3-2	HP:0000470	Short neck	1/7	OMIM:615777
579	NKX3-2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
579	NKX3-2	HP:0001763	Pes planus	1/7	OMIM:615777
579	NKX3-2	HP:0001762	Talipes equinovarus	1/3	OMIM:613330
579	NKX3-2	HP:0001847	Long hallux	1/3	OMIM:613330
579	NKX3-2	HP:0001840	Metatarsus adductus	-	OMIM:615777
579	NKX3-2	HP:0000520	Proptosis	2/4	OMIM:131300
579	NKX3-2	HP:0000520	Proptosis	7/7	OMIM:615777
579	NKX3-2	HP:0000592	Blue sclerae	2/7	OMIM:615777
579	NKX3-2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
579	NKX3-2	HP:0012514	Lower limb pain	4/4	OMIM:131300
580	BARD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
580	BARD1	HP:0012125	Prostate cancer	HP:0040283	ORPHA:145
580	BARD1	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
580	BARD1	HP:0100615	Ovarian neoplasm	HP:0040281	ORPHA:145
580	BARD1	HP:0003002	Breast carcinoma	-	OMIM:114480
580	BARD1	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:145
580	BARD1	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:145
580	BARD1	HP:0002861	Melanoma	HP:0040283	ORPHA:145
580	BARD1	HP:0011027	Abnormal fallopian tube morphology	HP:0040281	ORPHA:145
580	BARD1	HP:0030406	Primary peritoneal carcinoma	HP:0040281	ORPHA:145
581	BAX	HP:0010982	Polygenic inheritance	-	OMIM:613065
581	BAX	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
581	BAX	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
581	BAX	HP:0001442	Typified by somatic mosaicism	-	OMIM:613065
581	BAX	HP:0005584	Renal cell carcinoma	-	OMIM:114500
581	BAX	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
581	BAX	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
581	BAX	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
581	BAX	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
581	BAX	HP:0006721	Acute lymphoblastic leukemia	-	OMIM:613065
582	BBS1	HP:0001156	Brachydactyly	-	OMIM:209900
582	BBS1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
582	BBS1	HP:0001162	Postaxial hand polydactyly	1/1	OMIM:209900
582	BBS1	HP:0001159	Syndactyly	-	OMIM:209900
582	BBS1	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
582	BBS1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
582	BBS1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
582	BBS1	HP:0001250	Seizure	HP:0040283	ORPHA:110
582	BBS1	HP:0001251	Ataxia	-	OMIM:209900
582	BBS1	HP:0001251	Ataxia	HP:0040283	ORPHA:110
582	BBS1	HP:0001249	Intellectual disability	26/33	OMIM:209900
582	BBS1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
582	BBS1	HP:0001263	Global developmental delay	2/4	OMIM:209900
582	BBS1	HP:0001257	Spasticity	HP:0040283	ORPHA:110
582	BBS1	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
582	BBS1	HP:0008734	Decreased testicular size	-	OMIM:209900
582	BBS1	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
582	BBS1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
582	BBS1	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
582	BBS1	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
582	BBS1	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
582	BBS1	HP:0001395	Hepatic fibrosis	-	OMIM:209900
582	BBS1	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
582	BBS1	HP:0000077	Abnormality of the kidney	-	OMIM:209900
582	BBS1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
582	BBS1	HP:0000054	Micropenis	-	OMIM:209900
582	BBS1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
582	BBS1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
582	BBS1	HP:0001328	Specific learning disability	-	OMIM:209900
582	BBS1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
582	BBS1	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
582	BBS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
582	BBS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:209900
582	BBS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
582	BBS1	HP:0002650	Scoliosis	1/10	OMIM:209900
582	BBS1	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
582	BBS1	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
582	BBS1	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
582	BBS1	HP:0000135	Hypogonadism	-	OMIM:209900
582	BBS1	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
582	BBS1	HP:0000137	Abnormality of the ovary	-	OMIM:209900
582	BBS1	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
582	BBS1	HP:0000148	Vaginal atresia	-	OMIM:209900
582	BBS1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
582	BBS1	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
582	BBS1	HP:0007663	Reduced visual acuity	15/15	OMIM:209900
582	BBS1	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
582	BBS1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
582	BBS1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
582	BBS1	HP:0002705	High, narrow palate	-	OMIM:209900
582	BBS1	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
582	BBS1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
582	BBS1	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
582	BBS1	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
582	BBS1	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
582	BBS1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
582	BBS1	HP:0002099	Asthma	-	OMIM:209900
582	BBS1	HP:0002099	Asthma	HP:0040283	ORPHA:110
582	BBS1	HP:0009466	Radial deviation of finger	-	OMIM:209900
582	BBS1	HP:0002141	Gait imbalance	-	OMIM:209900
582	BBS1	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
582	BBS1	HP:0002167	Abnormal speech pattern	-	OMIM:209900
582	BBS1	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
582	BBS1	HP:0003577	Congenital onset	4/4	OMIM:209900
582	BBS1	HP:0002251	Aganglionic megacolon	HP:0040283	OMIM:209900
582	BBS1	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
582	BBS1	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
582	BBS1	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
582	BBS1	HP:0002370	Poor coordination	-	OMIM:209900
582	BBS1	HP:0001007	Hirsutism	-	OMIM:209900
582	BBS1	HP:0009806	Nephrogenic diabetes insipidus	-	OMIM:209900
582	BBS1	HP:0001080	Biliary tract abnormality	-	OMIM:209900
582	BBS1	HP:0010750	Dermatochalasis	1/3	OMIM:209900
582	BBS1	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
582	BBS1	HP:0003621	Juvenile onset	5/9	OMIM:209900
582	BBS1	HP:0003621	Juvenile onset	8/19	OMIM:180100
582	BBS1	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
582	BBS1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
582	BBS1	HP:0000639	Nystagmus	11/11	OMIM:209900
582	BBS1	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
582	BBS1	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
582	BBS1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
582	BBS1	HP:0000618	Blindness	HP:0040281	ORPHA:791
582	BBS1	HP:0000618	Blindness	HP:0040282	ORPHA:110
582	BBS1	HP:0000613	Photophobia	HP:0040282	ORPHA:110
582	BBS1	HP:0000613	Photophobia	HP:0040281	ORPHA:791
582	BBS1	HP:0001956	Truncal obesity	18/22	OMIM:209900
582	BBS1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
582	BBS1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
582	BBS1	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
582	BBS1	HP:0000678	Dental crowding	-	OMIM:209900
582	BBS1	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
582	BBS1	HP:0000691	Microdontia	HP:0040283	ORPHA:110
582	BBS1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
582	BBS1	HP:0000662	Nyctalopia	14/14	OMIM:209900
582	BBS1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
582	BBS1	HP:0000662	Nyctalopia	26/28	OMIM:180100
582	BBS1	HP:0000668	Hypodontia	-	OMIM:209900
582	BBS1	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
582	BBS1	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
582	BBS1	HP:0004322	Short stature	HP:0040282	ORPHA:110
582	BBS1	HP:0030631	Hyperautofluorescent macular lesion	1/1	OMIM:209900
582	BBS1	HP:0012743	Abdominal obesity	1/1	OMIM:209900
582	BBS1	HP:0000739	Anxiety	HP:0040283	ORPHA:110
582	BBS1	HP:0000736	Short attention span	HP:0040282	ORPHA:110
582	BBS1	HP:0000750	Delayed speech and language development	-	OMIM:209900
582	BBS1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
582	BBS1	HP:0000716	Depression	HP:0040282	ORPHA:110
582	BBS1	HP:0000717	Autism	HP:0040282	ORPHA:110
582	BBS1	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
582	BBS1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
582	BBS1	HP:0011463	Childhood onset	4/9	OMIM:209900
582	BBS1	HP:0011463	Childhood onset	3/19	OMIM:180100
582	BBS1	HP:0011462	Young adult onset	8/19	OMIM:180100
582	BBS1	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
582	BBS1	HP:0000789	Infertility	HP:0040283	ORPHA:110
582	BBS1	HP:0000786	Primary amenorrhea	2/2	OMIM:209900
582	BBS1	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
582	BBS1	HP:0030786	Photopsia	HP:0040283	ORPHA:791
582	BBS1	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
582	BBS1	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
582	BBS1	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
582	BBS1	HP:0000855	Insulin resistance	1/1	OMIM:209900
582	BBS1	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
582	BBS1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
582	BBS1	HP:0000819	Diabetes mellitus	7/22	OMIM:209900
582	BBS1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
582	BBS1	HP:0000822	Hypertension	-	OMIM:209900
582	BBS1	HP:0000822	Hypertension	HP:0040282	ORPHA:110
582	BBS1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
582	BBS1	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
582	BBS1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
582	BBS1	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
582	BBS1	HP:0100259	Postaxial polydactyly	21/33	OMIM:209900
582	BBS1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
582	BBS1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
582	BBS1	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
582	BBS1	HP:0000256	Macrocephaly	-	OMIM:209900
582	BBS1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
582	BBS1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
582	BBS1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
582	BBS1	HP:0007737	Bone spicule pigmentation of the retina	3/3	OMIM:209900
582	BBS1	HP:0000218	High palate	1/1	OMIM:209900
582	BBS1	HP:0000218	High palate	HP:0040282	ORPHA:110
582	BBS1	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
582	BBS1	HP:0001513	Obesity	11/12	OMIM:209900
582	BBS1	HP:0001513	Obesity	HP:0040281	ORPHA:110
582	BBS1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
582	BBS1	HP:0007843	Attenuation of retinal blood vessels	4/4	OMIM:209900
582	BBS1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
582	BBS1	HP:0012393	Allergy	-	OMIM:209900
582	BBS1	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
582	BBS1	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
582	BBS1	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
582	BBS1	HP:0000388	Otitis media	HP:0040283	ORPHA:110
582	BBS1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
582	BBS1	HP:0000365	Hearing impairment	-	OMIM:209900
582	BBS1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
582	BBS1	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
582	BBS1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
582	BBS1	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
582	BBS1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
582	BBS1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
582	BBS1	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
582	BBS1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
582	BBS1	HP:0007994	Peripheral visual field loss	1/1	OMIM:209900
582	BBS1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
582	BBS1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
582	BBS1	HP:0000400	Macrotia	HP:0040283	ORPHA:110
582	BBS1	HP:0001712	Left ventricular hypertrophy	-	OMIM:209900
582	BBS1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
582	BBS1	HP:0000483	Astigmatism	3/3	OMIM:209900
582	BBS1	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
582	BBS1	HP:0000486	Strabismus	-	OMIM:209900
582	BBS1	HP:0000486	Strabismus	HP:0040283	ORPHA:110
582	BBS1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
582	BBS1	HP:0000470	Short neck	HP:0040283	ORPHA:110
582	BBS1	HP:0001773	Short foot	-	OMIM:209900
582	BBS1	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
582	BBS1	HP:0001769	Broad foot	-	OMIM:209900
582	BBS1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
582	BBS1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
582	BBS1	HP:0000518	Cataract	2/13	OMIM:209900
582	BBS1	HP:0000518	Cataract	HP:0040283	ORPHA:110
582	BBS1	HP:0000510	Rod-cone dystrophy	24/24	OMIM:209900
582	BBS1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
582	BBS1	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
582	BBS1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
582	BBS1	HP:0001829	Foot polydactyly	-	OMIM:209900
582	BBS1	HP:0000508	Ptosis	2/3	OMIM:209900
582	BBS1	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
582	BBS1	HP:0001830	Postaxial foot polydactyly	1/1	OMIM:209900
582	BBS1	HP:0000501	Glaucoma	-	OMIM:209900
582	BBS1	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
582	BBS1	HP:0000575	Scotoma	5/18	OMIM:180100
582	BBS1	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
582	BBS1	HP:0000556	Retinal dystrophy	-	OMIM:209900
582	BBS1	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
582	BBS1	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
582	BBS1	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
582	BBS1	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
582	BBS1	HP:0000546	Retinal degeneration	1/1	OMIM:209900
582	BBS1	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
582	BBS1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
582	BBS1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
582	BBS1	HP:0000545	Myopia	6/13	OMIM:209900
582	BBS1	HP:0000545	Myopia	-	OMIM:180100
583	BBS2	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
583	BBS2	HP:0001162	Postaxial hand polydactyly	14/14	OMIM:615981
583	BBS2	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
583	BBS2	HP:0001133	Constriction of peripheral visual field	-	OMIM:616562
583	BBS2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
583	BBS2	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
583	BBS2	HP:0001115	Posterior polar cataract	-	OMIM:616562
583	BBS2	HP:0010946	Dilatation of the renal pelvis	1/1	OMIM:615981
583	BBS2	HP:0032285	Ultra-low vision with retained light projection	2/2	OMIM:615981
583	BBS2	HP:0001250	Seizure	HP:0040283	ORPHA:110
583	BBS2	HP:0001251	Ataxia	HP:0040283	ORPHA:110
583	BBS2	HP:0001249	Intellectual disability	14/14	OMIM:615981
583	BBS2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
583	BBS2	HP:0001263	Global developmental delay	3/3	OMIM:615981
583	BBS2	HP:0001257	Spasticity	HP:0040283	ORPHA:110
583	BBS2	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
583	BBS2	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
583	BBS2	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
583	BBS2	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
583	BBS2	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
583	BBS2	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
583	BBS2	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
583	BBS2	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
583	BBS2	HP:0000041	Chordee	1/2	OMIM:615981
583	BBS2	HP:0000054	Micropenis	1/1	OMIM:615981
583	BBS2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
583	BBS2	HP:0000047	Hypospadias	1/2	OMIM:615981
583	BBS2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
583	BBS2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
583	BBS2	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
583	BBS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616562
583	BBS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615981
583	BBS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
583	BBS2	HP:0000003	Multicystic kidney dysplasia	1/4	OMIM:615981
583	BBS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
583	BBS2	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
583	BBS2	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
583	BBS2	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
583	BBS2	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
583	BBS2	HP:0000135	Hypogonadism	2/2	OMIM:615981
583	BBS2	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
583	BBS2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
583	BBS2	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
583	BBS2	HP:0007663	Reduced visual acuity	8/8	OMIM:616562
583	BBS2	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
583	BBS2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
583	BBS2	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
583	BBS2	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
583	BBS2	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
583	BBS2	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
583	BBS2	HP:0000103	Polyuria	1/1	OMIM:615981
583	BBS2	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
583	BBS2	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
583	BBS2	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
583	BBS2	HP:0002099	Asthma	HP:0040283	ORPHA:110
583	BBS2	HP:0010442	Polydactyly	1/9	OMIM:616562
583	BBS2	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
583	BBS2	HP:0011939	3-4 finger cutaneous syndactyly	1/3	OMIM:615981
583	BBS2	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
583	BBS2	HP:0003596	Middle age onset	1/9	OMIM:616562
583	BBS2	HP:0003577	Congenital onset	4/4	OMIM:615981
583	BBS2	HP:0003584	Late onset	1/9	OMIM:616562
583	BBS2	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
583	BBS2	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
583	BBS2	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
583	BBS2	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
583	BBS2	HP:0003621	Juvenile onset	8/19	OMIM:180100
583	BBS2	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
583	BBS2	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
583	BBS2	HP:0012622	Chronic kidney disease	2/2	OMIM:615981
583	BBS2	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
583	BBS2	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
583	BBS2	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
583	BBS2	HP:0000618	Blindness	HP:0040281	ORPHA:791
583	BBS2	HP:0000618	Blindness	HP:0040282	ORPHA:110
583	BBS2	HP:0000613	Photophobia	HP:0040282	ORPHA:110
583	BBS2	HP:0000613	Photophobia	HP:0040281	ORPHA:791
583	BBS2	HP:0001959	Polydipsia	1/1	OMIM:615981
583	BBS2	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
583	BBS2	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
583	BBS2	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
583	BBS2	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
583	BBS2	HP:0000678	Dental crowding	1/1	OMIM:615981
583	BBS2	HP:0000691	Microdontia	HP:0040283	ORPHA:110
583	BBS2	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
583	BBS2	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
583	BBS2	HP:0000662	Nyctalopia	26/28	OMIM:180100
583	BBS2	HP:0000662	Nyctalopia	1/1	OMIM:615981
583	BBS2	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
583	BBS2	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
583	BBS2	HP:0004322	Short stature	HP:0040282	ORPHA:110
583	BBS2	HP:0012745	Short palpebral fissure	1/4	OMIM:615981
583	BBS2	HP:0000752	Hyperactivity	2/2	OMIM:615981
583	BBS2	HP:0000739	Anxiety	HP:0040283	ORPHA:110
583	BBS2	HP:0000736	Short attention span	HP:0040282	ORPHA:110
583	BBS2	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
583	BBS2	HP:0000716	Depression	HP:0040282	ORPHA:110
583	BBS2	HP:0000717	Autism	HP:0040282	ORPHA:110
583	BBS2	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
583	BBS2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
583	BBS2	HP:0011463	Childhood onset	1/9	OMIM:616562
583	BBS2	HP:0011463	Childhood onset	3/19	OMIM:180100
583	BBS2	HP:0011462	Young adult onset	6/9	OMIM:616562
583	BBS2	HP:0011462	Young adult onset	8/19	OMIM:180100
583	BBS2	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
583	BBS2	HP:0000789	Infertility	HP:0040283	ORPHA:110
583	BBS2	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
583	BBS2	HP:0030786	Photopsia	HP:0040283	ORPHA:791
583	BBS2	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
583	BBS2	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
583	BBS2	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
583	BBS2	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
583	BBS2	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
583	BBS2	HP:0000819	Diabetes mellitus	13/14	OMIM:615981
583	BBS2	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
583	BBS2	HP:0000822	Hypertension	HP:0040282	ORPHA:110
583	BBS2	HP:0000822	Hypertension	1/1	OMIM:615981
583	BBS2	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
583	BBS2	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
583	BBS2	HP:0003241	External genital hypoplasia	-	OMIM:615981
583	BBS2	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
583	BBS2	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
583	BBS2	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
583	BBS2	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
583	BBS2	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
583	BBS2	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
583	BBS2	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
583	BBS2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
583	BBS2	HP:0012210	Abnormal renal morphology	0/9	OMIM:616562
583	BBS2	HP:0000218	High palate	HP:0040282	ORPHA:110
583	BBS2	HP:0000233	Thin vermilion border	1/4	OMIM:615981
583	BBS2	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
583	BBS2	HP:0001511	Intrauterine growth retardation	1/4	OMIM:615981
583	BBS2	HP:0001513	Obesity	1/9	OMIM:616562
583	BBS2	HP:0001513	Obesity	HP:0040281	ORPHA:110
583	BBS2	HP:0001513	Obesity	14/14	OMIM:615981
583	BBS2	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
583	BBS2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
583	BBS2	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
583	BBS2	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
583	BBS2	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
583	BBS2	HP:0000388	Otitis media	HP:0040283	ORPHA:110
583	BBS2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
583	BBS2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
583	BBS2	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
583	BBS2	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
583	BBS2	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
583	BBS2	HP:0000319	Smooth philtrum	1/4	OMIM:615981
583	BBS2	HP:0001647	Bicuspid aortic valve	HP:0040283	OMIM:615981
583	BBS2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
583	BBS2	HP:0000311	Round face	1/4	OMIM:615981
583	BBS2	HP:0001644	Dilated cardiomyopathy	HP:0040283	OMIM:615981
583	BBS2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
583	BBS2	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
583	BBS2	HP:0001631	Atrial septal defect	HP:0040283	OMIM:615981
583	BBS2	HP:0031624	Moderate myopia	1/1	OMIM:615981
583	BBS2	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
583	BBS2	HP:0007994	Peripheral visual field loss	1/1	OMIM:615981
583	BBS2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
583	BBS2	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
583	BBS2	HP:0000400	Macrotia	HP:0040283	ORPHA:110
583	BBS2	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
583	BBS2	HP:0005280	Depressed nasal bridge	2/3	OMIM:615981
583	BBS2	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
583	BBS2	HP:0000486	Strabismus	HP:0040283	ORPHA:110
583	BBS2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
583	BBS2	HP:0000494	Downslanted palpebral fissures	1/4	OMIM:615981
583	BBS2	HP:0000490	Deeply set eye	1/4	OMIM:615981
583	BBS2	HP:0000470	Short neck	HP:0040283	ORPHA:110
583	BBS2	HP:0000470	Short neck	2/3	OMIM:615981
583	BBS2	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
583	BBS2	HP:0000414	Bulbous nose	1/4	OMIM:615981
583	BBS2	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
583	BBS2	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
583	BBS2	HP:0000518	Cataract	HP:0040283	ORPHA:110
583	BBS2	HP:0000510	Rod-cone dystrophy	9/9	OMIM:616562
583	BBS2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
583	BBS2	HP:0000510	Rod-cone dystrophy	14/14	OMIM:615981
583	BBS2	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
583	BBS2	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
583	BBS2	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
583	BBS2	HP:0001830	Postaxial foot polydactyly	13/14	OMIM:615981
583	BBS2	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
583	BBS2	HP:0000580	Pigmentary retinopathy	-	OMIM:616562
583	BBS2	HP:0000575	Scotoma	5/18	OMIM:180100
583	BBS2	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
583	BBS2	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
583	BBS2	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
583	BBS2	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
583	BBS2	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
583	BBS2	HP:0000546	Retinal degeneration	-	OMIM:615981
583	BBS2	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
583	BBS2	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
583	BBS2	HP:0000543	Optic disc pallor	-	OMIM:616562
583	BBS2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
583	BBS2	HP:0000545	Myopia	-	OMIM:180100
585	BBS4	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
585	BBS4	HP:0001156	Brachydactyly	-	OMIM:615982
585	BBS4	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
585	BBS4	HP:0001159	Syndactyly	2/3	OMIM:615982
585	BBS4	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
585	BBS4	HP:0001250	Seizure	HP:0040283	ORPHA:110
585	BBS4	HP:0001251	Ataxia	HP:0040283	ORPHA:110
585	BBS4	HP:0001249	Intellectual disability	1/3	OMIM:615982
585	BBS4	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
585	BBS4	HP:0001257	Spasticity	HP:0040283	ORPHA:110
585	BBS4	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
585	BBS4	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
585	BBS4	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
585	BBS4	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
585	BBS4	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
585	BBS4	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
585	BBS4	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
585	BBS4	HP:0000077	Abnormality of the kidney	-	OMIM:615982
585	BBS4	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
585	BBS4	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
585	BBS4	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
585	BBS4	HP:0000028	Cryptorchidism	2/2	OMIM:615982
585	BBS4	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
585	BBS4	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
585	BBS4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615982
585	BBS4	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
585	BBS4	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
585	BBS4	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
585	BBS4	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
585	BBS4	HP:0000164	Abnormality of the dentition	HP:0040283	OMIM:615982
585	BBS4	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
585	BBS4	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
585	BBS4	HP:0000135	Hypogonadism	-	OMIM:615982
585	BBS4	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
585	BBS4	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
585	BBS4	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
585	BBS4	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
585	BBS4	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
585	BBS4	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
585	BBS4	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
585	BBS4	HP:0000107	Renal cyst	-	OMIM:615982
585	BBS4	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
585	BBS4	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
585	BBS4	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
585	BBS4	HP:0002099	Asthma	HP:0040283	ORPHA:110
585	BBS4	HP:0010442	Polydactyly	-	OMIM:615982
585	BBS4	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
585	BBS4	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
585	BBS4	HP:0003577	Congenital onset	3/3	OMIM:615982
585	BBS4	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
585	BBS4	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
585	BBS4	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
585	BBS4	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
585	BBS4	HP:0003621	Juvenile onset	8/19	OMIM:180100
585	BBS4	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
585	BBS4	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
585	BBS4	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
585	BBS4	HP:0000618	Blindness	HP:0040282	ORPHA:110
585	BBS4	HP:0000613	Photophobia	HP:0040282	ORPHA:110
585	BBS4	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
585	BBS4	HP:0000691	Microdontia	HP:0040283	ORPHA:110
585	BBS4	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
585	BBS4	HP:0000662	Nyctalopia	26/28	OMIM:180100
585	BBS4	HP:0000662	Nyctalopia	3/3	OMIM:615982
585	BBS4	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
585	BBS4	HP:0004322	Short stature	HP:0040282	ORPHA:110
585	BBS4	HP:0000739	Anxiety	HP:0040283	ORPHA:110
585	BBS4	HP:0000736	Short attention span	HP:0040282	ORPHA:110
585	BBS4	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
585	BBS4	HP:0000716	Depression	HP:0040282	ORPHA:110
585	BBS4	HP:0000717	Autism	HP:0040282	ORPHA:110
585	BBS4	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
585	BBS4	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
585	BBS4	HP:0011463	Childhood onset	3/19	OMIM:180100
585	BBS4	HP:0011462	Young adult onset	8/19	OMIM:180100
585	BBS4	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
585	BBS4	HP:0000789	Infertility	HP:0040283	ORPHA:110
585	BBS4	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
585	BBS4	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
585	BBS4	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
585	BBS4	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
585	BBS4	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
585	BBS4	HP:0000822	Hypertension	HP:0040282	ORPHA:110
585	BBS4	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
585	BBS4	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
585	BBS4	HP:0003241	External genital hypoplasia	-	OMIM:615982
585	BBS4	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
585	BBS4	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
585	BBS4	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
585	BBS4	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
585	BBS4	HP:0000218	High palate	HP:0040282	ORPHA:110
585	BBS4	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
585	BBS4	HP:0001513	Obesity	HP:0040281	ORPHA:110
585	BBS4	HP:0001513	Obesity	-	OMIM:615982
585	BBS4	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
585	BBS4	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
585	BBS4	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
585	BBS4	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
585	BBS4	HP:0000388	Otitis media	HP:0040283	ORPHA:110
585	BBS4	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
585	BBS4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
585	BBS4	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
585	BBS4	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
585	BBS4	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
585	BBS4	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
585	BBS4	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
585	BBS4	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
585	BBS4	HP:0000400	Macrotia	HP:0040283	ORPHA:110
585	BBS4	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
585	BBS4	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
585	BBS4	HP:0000486	Strabismus	HP:0040283	ORPHA:110
585	BBS4	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
585	BBS4	HP:0000470	Short neck	HP:0040283	ORPHA:110
585	BBS4	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
585	BBS4	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
585	BBS4	HP:0000518	Cataract	HP:0040283	ORPHA:110
585	BBS4	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
585	BBS4	HP:0000510	Rod-cone dystrophy	-	OMIM:615982
585	BBS4	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
585	BBS4	HP:0000575	Scotoma	5/18	OMIM:180100
585	BBS4	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
585	BBS4	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
585	BBS4	HP:0000546	Retinal degeneration	-	OMIM:615982
585	BBS4	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
585	BBS4	HP:0000543	Optic disc pallor	1/1	OMIM:180100
585	BBS4	HP:0000545	Myopia	-	OMIM:180100
587	BCAT2	HP:0010913	Hyperisoleucinemia	1/1	OMIM:618850
587	BCAT2	HP:0010911	Hyperleucinemia	1/1	OMIM:618850
587	BCAT2	HP:0010910	Hypervalinemia	1/1	OMIM:618850
587	BCAT2	HP:0001348	Brisk reflexes	1/1	OMIM:618850
587	BCAT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618850
587	BCAT2	HP:0002315	Headache	1/1	OMIM:618850
587	BCAT2	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:618850
587	BCAT2	HP:0031993	Hoffmann sign	1/1	OMIM:618850
587	BCAT2	HP:0002922	Increased CSF protein concentration	1/1	OMIM:618850
590	BCHE	HP:0031035	Chronic infection	HP:0040284	ORPHA:132
590	BCHE	HP:0001392	Abnormality of the liver	HP:0040284	ORPHA:132
590	BCHE	HP:0002664	Neoplasm	HP:0040284	ORPHA:132
590	BCHE	HP:0000007	Autosomal recessive inheritance	-	OMIM:617936
590	BCHE	HP:0003470	Paralysis	HP:0040284	ORPHA:132
590	BCHE	HP:0002104	Apnea	-	OMIM:617936
590	BCHE	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040284	ORPHA:132
590	BCHE	HP:0002878	Respiratory failure	HP:0040282	ORPHA:132
590	BCHE	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:132
590	BCHE	HP:0001658	Myocardial infarction	HP:0040284	ORPHA:132
590	BCHE	HP:0001635	Congestive heart failure	HP:0040284	ORPHA:132
593	BCKDHA	HP:0001290	Generalized hypotonia	-	OMIM:248600
593	BCKDHA	HP:0001276	Hypertonia	-	OMIM:248600
593	BCKDHA	HP:0001254	Lethargy	-	OMIM:248600
593	BCKDHA	HP:0001250	Seizure	-	OMIM:248600
593	BCKDHA	HP:0001252	Hypotonia	-	OMIM:248600
593	BCKDHA	HP:0001251	Ataxia	-	OMIM:248600
593	BCKDHA	HP:0001249	Intellectual disability	-	OMIM:248600
593	BCKDHA	HP:0001259	Coma	-	OMIM:248600
593	BCKDHA	HP:0008872	Feeding difficulties in infancy	-	OMIM:248600
593	BCKDHA	HP:0000007	Autosomal recessive inheritance	-	OMIM:248600
593	BCKDHA	HP:0410066	Increased level of hippuric acid in urine	20/20	OMIM:248600
593	BCKDHA	HP:0002013	Vomiting	-	OMIM:248600
593	BCKDHA	HP:6000124	Positive 2,4-dinitrophenylhydrazine urine test	-	OMIM:248600
593	BCKDHA	HP:0033155	Elevated circulating L-alloisoleucine concentration	-	OMIM:248600
593	BCKDHA	HP:0002181	Cerebral edema	-	OMIM:248600
593	BCKDHA	HP:0008344	Elevated circulating branched chain amino acid concentration	-	OMIM:248600
593	BCKDHA	HP:0001943	Hypoglycemia	-	OMIM:248600
593	BCKDHA	HP:0001946	Ketosis	-	OMIM:248600
593	BCKDHA	HP:0031796	Recurrent	-	OMIM:248600
593	BCKDHA	HP:0000738	Hallucinations	-	OMIM:248600
593	BCKDHA	HP:4000207	Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts	-	OMIM:248600
593	BCKDHA	HP:0003128	Lactic acidosis	-	OMIM:248600
593	BCKDHA	HP:0001507	Growth abnormality	-	OMIM:248600
593	BCKDHA	HP:0001733	Pancreatitis	-	OMIM:248600
594	BCKDHB	HP:0010913	Hyperisoleucinemia	2/2	OMIM:620698
594	BCKDHB	HP:0010911	Hyperleucinemia	3/3	OMIM:620698
594	BCKDHB	HP:0010910	Hypervalinemia	2/2	OMIM:620698
594	BCKDHB	HP:0001254	Lethargy	2/2	OMIM:620698
594	BCKDHB	HP:0001250	Seizure	2/2	OMIM:620698
594	BCKDHB	HP:0000007	Autosomal recessive inheritance	-	OMIM:620698
594	BCKDHB	HP:0002179	Opisthotonus	1/1	OMIM:620698
594	BCKDHB	HP:0003593	Infantile onset	2/2	OMIM:620698
594	BCKDHB	HP:0011968	Feeding difficulties	3/3	OMIM:620698
594	BCKDHB	HP:0003623	Neonatal onset	1/1	OMIM:620698
595	CCND1	HP:0001297	Stroke	HP:0040283	ORPHA:892
595	CCND1	HP:0031047	Paraproteinemia	-	OMIM:254500
595	CCND1	HP:0002516	Increased intracranial pressure	HP:0040284	ORPHA:892
595	CCND1	HP:0000098	Tall stature	HP:0040283	ORPHA:29073
595	CCND1	HP:0000014	Abnormality of the bladder	HP:0040283	ORPHA:29073
595	CCND1	HP:0002668	Paraganglioma	HP:0040284	ORPHA:892
595	CCND1	HP:0002668	Paraganglioma	-	OMIM:193300
595	CCND1	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
595	CCND1	HP:0000006	Autosomal dominant inheritance	-	OMIM:193300
595	CCND1	HP:0002666	Pheochromocytoma	-	OMIM:193300
595	CCND1	HP:0002653	Bone pain	HP:0040282	ORPHA:29073
595	CCND1	HP:0012191	B-cell lymphoma	HP:0040281	ORPHA:52416
595	CCND1	HP:0012185	Constrictive median neuropathy	HP:0040283	ORPHA:29073
595	CCND1	HP:0002797	Osteolysis	HP:0040282	ORPHA:29073
595	CCND1	HP:0031207	Hepatic hemangioma	-	OMIM:193300
595	CCND1	HP:0000100	Nephrotic syndrome	HP:0040282	ORPHA:29073
595	CCND1	HP:0002756	Pathologic fracture	HP:0040281	ORPHA:29073
595	CCND1	HP:0000112	Nephropathy	HP:0040282	ORPHA:29073
595	CCND1	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
595	CCND1	HP:0001442	Typified by somatic mosaicism	-	OMIM:254500
595	CCND1	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:52416
595	CCND1	HP:0002716	Lymphadenopathy	HP:0040284	ORPHA:29073
595	CCND1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:892
595	CCND1	HP:0003334	Elevated circulating catecholamine level	HP:0040283	ORPHA:892
595	CCND1	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:29073
595	CCND1	HP:0005954	Pulmonary capillary hemangiomatosis	-	OMIM:193300
595	CCND1	HP:0002039	Anorexia	HP:0040282	ORPHA:52416
595	CCND1	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:892
595	CCND1	HP:0002152	Hyperproteinemia	HP:0040282	ORPHA:29073
595	CCND1	HP:0003418	Back pain	HP:0040283	ORPHA:892
595	CCND1	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:29073
595	CCND1	HP:0003401	Paresthesia	HP:0040283	ORPHA:29073
595	CCND1	HP:0008261	Pancreatic islet cell adenoma	HP:0040283	ORPHA:892
595	CCND1	HP:0003581	Adult onset	-	OMIM:254500
595	CCND1	HP:0002202	Pleural effusion	HP:0040284	ORPHA:29073
595	CCND1	HP:0009711	Retinal capillary hemangioma	HP:0040282	ORPHA:892
595	CCND1	HP:0009711	Retinal capillary hemangioma	-	OMIM:193300
595	CCND1	HP:0009713	Spinal hemangioblastoma	-	OMIM:193300
595	CCND1	HP:0009715	Papillary cystadenoma of the epididymis	HP:0040283	ORPHA:892
595	CCND1	HP:0009715	Papillary cystadenoma of the epididymis	-	OMIM:193300
595	CCND1	HP:0011976	Elevated urinary catecholamine level	HP:0040282	ORPHA:892
595	CCND1	HP:0002321	Vertigo	24/35	OMIM:193300
595	CCND1	HP:0002321	Vertigo	HP:0040283	ORPHA:892
595	CCND1	HP:0002315	Headache	HP:0040283	ORPHA:892
595	CCND1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:29073
595	CCND1	HP:0001095	Hypertensive retinopathy	HP:0040283	ORPHA:892
595	CCND1	HP:0001085	Papilledema	HP:0040283	ORPHA:892
595	CCND1	HP:0009763	Limb pain	HP:0040283	ORPHA:892
595	CCND1	HP:0005584	Renal cell carcinoma	HP:0040282	ORPHA:892
595	CCND1	HP:0005584	Renal cell carcinoma	-	OMIM:114500
595	CCND1	HP:0005584	Renal cell carcinoma	-	OMIM:193300
595	CCND1	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:892
595	CCND1	HP:0005562	Multiple renal cysts	-	OMIM:193300
595	CCND1	HP:0005561	Abnormal bone marrow cell morphology	HP:0040282	ORPHA:52416
595	CCND1	HP:0006880	Cerebellar hemangioblastoma	HP:0040282	ORPHA:892
595	CCND1	HP:0006880	Cerebellar hemangioblastoma	-	OMIM:193300
595	CCND1	HP:0001962	Palpitations	HP:0040283	ORPHA:892
595	CCND1	HP:0001945	Fever	HP:0040282	ORPHA:52416
595	CCND1	HP:0001903	Anemia	HP:0040282	ORPHA:29073
595	CCND1	HP:0001901	Polycythemia	HP:0040284	ORPHA:892
595	CCND1	HP:0001901	Polycythemia	-	OMIM:193300
595	CCND1	HP:0001919	Acute kidney injury	HP:0040282	ORPHA:29073
595	CCND1	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:892
595	CCND1	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040282	ORPHA:29073
595	CCND1	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:29073
595	CCND1	HP:0004341	Abnormality of vitamin B12 metabolism	HP:0040283	ORPHA:29073
595	CCND1	HP:0000739	Anxiety	HP:0040283	ORPHA:892
595	CCND1	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040283	ORPHA:29073
595	CCND1	HP:0011462	Young adult onset	-	OMIM:193300
595	CCND1	HP:0012819	Myocarditis	HP:0040284	ORPHA:892
595	CCND1	HP:0000822	Hypertension	-	OMIM:193300
595	CCND1	HP:0000822	Hypertension	HP:0040282	ORPHA:892
595	CCND1	HP:0040049	Macular edema	HP:0040283	ORPHA:892
595	CCND1	HP:0003237	Increased circulating IgG concentration	HP:0040282	ORPHA:29073
595	CCND1	HP:0003261	Increased circulating IgA concentration	HP:0040283	ORPHA:29073
595	CCND1	HP:0003259	Elevated circulating creatinine concentration	HP:0040282	ORPHA:29073
595	CCND1	HP:0000980	Pallor	HP:0040282	ORPHA:29073
595	CCND1	HP:0000980	Pallor	HP:0040283	ORPHA:892
595	CCND1	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:892
595	CCND1	HP:0000938	Osteopenia	HP:0040281	ORPHA:29073
595	CCND1	HP:0011675	Arrhythmia	HP:0040283	ORPHA:892
595	CCND1	HP:0002808	Kyphosis	HP:0040283	ORPHA:29073
595	CCND1	HP:0002894	Neoplasm of the pancreas	HP:0040284	ORPHA:892
595	CCND1	HP:0002894	Neoplasm of the pancreas	-	OMIM:193300
595	CCND1	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
595	CCND1	HP:0012378	Fatigue	HP:0040282	ORPHA:52416
595	CCND1	HP:0012378	Fatigue	HP:0040282	ORPHA:29073
595	CCND1	HP:0011034	Amyloidosis	-	OMIM:254500
595	CCND1	HP:0005162	Abnormal left ventricular function	HP:0040283	ORPHA:892
595	CCND1	HP:0000360	Tinnitus	27/35	OMIM:193300
595	CCND1	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:52416
595	CCND1	HP:0001658	Myocardial infarction	HP:0040284	ORPHA:892
595	CCND1	HP:0002953	Vertebral compression fracture	HP:0040283	ORPHA:29073
595	CCND1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:892
595	CCND1	HP:0000407	Sensorineural hearing impairment	34/35	OMIM:193300
595	CCND1	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:892
595	CCND1	HP:0001737	Pancreatic cysts	-	OMIM:193300
595	CCND1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:892
595	CCND1	HP:0001744	Splenomegaly	HP:0040284	ORPHA:29073
595	CCND1	HP:0001744	Splenomegaly	HP:0040282	ORPHA:52416
595	CCND1	HP:0006748	Adrenal pheochromocytoma	HP:0040282	ORPHA:892
595	CCND1	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
595	CCND1	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
595	CCND1	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
595	CCND1	HP:0030405	Pancreatic endocrine tumor	HP:0040283	ORPHA:892
595	CCND1	HP:0030424	Epididymal cyst	HP:0040284	ORPHA:892
595	CCND1	HP:0030424	Epididymal cyst	-	OMIM:193300
595	CCND1	HP:0006775	Multiple myeloma	-	OMIM:254500
595	CCND1	HP:0001824	Weight loss	HP:0040282	ORPHA:52416
595	CCND1	HP:0001824	Weight loss	HP:0040283	ORPHA:29073
595	CCND1	HP:0000572	Visual loss	HP:0040283	ORPHA:892
595	CCND1	HP:0030393	Endolymphatic sac tumor	HP:0040283	ORPHA:892
595	CCND1	HP:0000541	Retinal detachment	HP:0040284	ORPHA:892
596	BCL2	HP:0001287	Meningitis	HP:0040283	ORPHA:545
596	BCL2	HP:0002585	Abnormal peritoneum morphology	HP:0040283	ORPHA:545
596	BCL2	HP:0033823	Mediastinal mass	HP:0040284	ORPHA:545
596	BCL2	HP:0002665	Lymphoma	HP:0040281	ORPHA:545
596	BCL2	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:545
596	BCL2	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:545
596	BCL2	HP:0002202	Pleural effusion	HP:0040283	ORPHA:545
596	BCL2	HP:0100721	Mediastinal lymphadenopathy	HP:0040281	ORPHA:545
596	BCL2	HP:0001004	Lymphedema	HP:0040283	ORPHA:545
596	BCL2	HP:0200036	Skin nodule	HP:0040283	ORPHA:545
596	BCL2	HP:0001945	Fever	HP:0040281	ORPHA:545
596	BCL2	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:545
596	BCL2	HP:0001541	Ascites	HP:0040283	ORPHA:545
596	BCL2	HP:0012378	Fatigue	HP:0040282	ORPHA:545
596	BCL2	HP:0030166	Night sweats	HP:0040282	ORPHA:545
596	BCL2	HP:0001744	Splenomegaly	HP:0040282	ORPHA:545
596	BCL2	HP:0001824	Weight loss	HP:0040281	ORPHA:545
604	BCL6	HP:0001287	Meningitis	HP:0040283	ORPHA:545
604	BCL6	HP:0002585	Abnormal peritoneum morphology	HP:0040283	ORPHA:545
604	BCL6	HP:0033823	Mediastinal mass	HP:0040284	ORPHA:545
604	BCL6	HP:0002665	Lymphoma	HP:0040281	ORPHA:545
604	BCL6	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:545
604	BCL6	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:545
604	BCL6	HP:0002202	Pleural effusion	HP:0040283	ORPHA:545
604	BCL6	HP:0100721	Mediastinal lymphadenopathy	HP:0040281	ORPHA:545
604	BCL6	HP:0001004	Lymphedema	HP:0040283	ORPHA:545
604	BCL6	HP:0200036	Skin nodule	HP:0040283	ORPHA:545
604	BCL6	HP:0001945	Fever	HP:0040281	ORPHA:545
604	BCL6	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:545
604	BCL6	HP:0001541	Ascites	HP:0040283	ORPHA:545
604	BCL6	HP:0012378	Fatigue	HP:0040282	ORPHA:545
604	BCL6	HP:0030166	Night sweats	HP:0040282	ORPHA:545
604	BCL6	HP:0001744	Splenomegaly	HP:0040282	ORPHA:545
604	BCL6	HP:0001824	Weight loss	HP:0040281	ORPHA:545
610	HCN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:602477
610	HCN2	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:602477
610	HCN2	HP:0003593	Infantile onset	-	OMIM:602477
610	HCN2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	-	OMIM:602477
610	HCN2	HP:0010819	Atonic seizure	-	OMIM:602477
610	HCN2	HP:0010818	Generalized tonic seizure	-	OMIM:602477
611	OPN1SW	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
611	OPN1SW	HP:0012043	Pendular nystagmus	HP:0040283	ORPHA:88629
611	OPN1SW	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
611	OPN1SW	HP:0000006	Autosomal dominant inheritance	-	OMIM:190900
611	OPN1SW	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
611	OPN1SW	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
611	OPN1SW	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
611	OPN1SW	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:88629
611	OPN1SW	HP:0007641	Dyschromatopsia	-	OMIM:190900
611	OPN1SW	HP:0008275	Abnormal light-adapted electroretinogram	-	OMIM:190900
611	OPN1SW	HP:0003621	Juvenile onset	8/19	OMIM:180100
611	OPN1SW	HP:0000613	Photophobia	HP:0040283	ORPHA:88629
611	OPN1SW	HP:0000662	Nyctalopia	26/28	OMIM:180100
611	OPN1SW	HP:0030584	Color vision test abnormality	HP:0040282	ORPHA:88629
611	OPN1SW	HP:0011463	Childhood onset	3/19	OMIM:180100
611	OPN1SW	HP:0011462	Young adult onset	8/19	OMIM:180100
611	OPN1SW	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
611	OPN1SW	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
611	OPN1SW	HP:0000479	Abnormal retinal morphology	HP:0040282	ORPHA:88629
611	OPN1SW	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
611	OPN1SW	HP:0000575	Scotoma	5/18	OMIM:180100
611	OPN1SW	HP:0000552	Tritanomaly	-	OMIM:190900
611	OPN1SW	HP:0000552	Tritanomaly	HP:0040282	ORPHA:88629
611	OPN1SW	HP:0000551	Color vision defect	-	OMIM:190900
611	OPN1SW	HP:0000543	Optic disc pallor	1/1	OMIM:180100
611	OPN1SW	HP:0000545	Myopia	-	OMIM:180100
613	BCR	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:261330
613	BCR	HP:0002463	Language impairment	HP:0040281	ORPHA:261330
613	BCR	HP:0009882	Short distal phalanx of finger	HP:0040283	ORPHA:261330
613	BCR	HP:0001250	Seizure	HP:0040283	ORPHA:261330
613	BCR	HP:0001249	Intellectual disability	HP:0040281	ORPHA:261330
613	BCR	HP:0001263	Global developmental delay	HP:0040281	ORPHA:261330
613	BCR	HP:0010982	Polygenic inheritance	-	OMIM:613065
613	BCR	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:261330
613	BCR	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:261330
613	BCR	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:261330
613	BCR	HP:0002664	Neoplasm	HP:0040282	ORPHA:261330
613	BCR	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:261330
613	BCR	HP:0002673	Coxa valga	HP:0040283	ORPHA:261330
613	BCR	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:261330
613	BCR	HP:0000160	Narrow mouth	HP:0040283	ORPHA:261330
613	BCR	HP:0000175	Cleft palate	HP:0040283	ORPHA:261330
613	BCR	HP:0002705	High, narrow palate	HP:0040283	ORPHA:261330
613	BCR	HP:0001442	Typified by somatic mosaicism	-	OMIM:613065
613	BCR	HP:0001442	Typified by somatic mosaicism	-	OMIM:608232
613	BCR	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:261330
613	BCR	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:261330
613	BCR	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:261330
613	BCR	HP:0009465	Ulnar deviation of finger	HP:0040283	ORPHA:261330
613	BCR	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:261330
613	BCR	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:261330
613	BCR	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:261330
613	BCR	HP:0004852	Reduced leukocyte alkaline phosphatase	-	OMIM:608232
613	BCR	HP:0004848	Ph-positive acute lymphoblastic leukemia	-	OMIM:608232
613	BCR	HP:0009795	Branchial fistula	HP:0040283	ORPHA:261330
613	BCR	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:261330
613	BCR	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:261330
613	BCR	HP:0005506	Chronic myelogenous leukemia	-	OMIM:608232
613	BCR	HP:0004279	Short palm	HP:0040283	ORPHA:261330
613	BCR	HP:0005547	Myeloproliferative disorder	HP:0040280	ORPHA:521
613	BCR	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:521
613	BCR	HP:0001945	Fever	HP:0040282	ORPHA:521
613	BCR	HP:0001911	Abnormal granulocyte morphology	HP:0040282	ORPHA:521
613	BCR	HP:0001912	Abnormal basophil morphology	HP:0040282	ORPHA:521
613	BCR	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:261330
613	BCR	HP:0004322	Short stature	HP:0040281	ORPHA:261330
613	BCR	HP:0004396	Poor appetite	HP:0040282	ORPHA:521
613	BCR	HP:0100033	Tics	HP:0040283	ORPHA:261330
613	BCR	HP:0000716	Depression	HP:0040283	ORPHA:261330
613	BCR	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:261330
613	BCR	HP:0010296	Ankyloglossia	HP:0040283	ORPHA:261330
613	BCR	HP:0000276	Long face	HP:0040283	ORPHA:261330
613	BCR	HP:0000272	Malar flattening	HP:0040283	ORPHA:261330
613	BCR	HP:0000252	Microcephaly	HP:0040282	ORPHA:261330
613	BCR	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:261330
613	BCR	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:261330
613	BCR	HP:0001510	Growth delay	HP:0040283	ORPHA:261330
613	BCR	HP:0012378	Fatigue	HP:0040282	ORPHA:521
613	BCR	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:261330
613	BCR	HP:0000363	Abnormal earlobe morphology	HP:0040282	ORPHA:261330
613	BCR	HP:0000319	Smooth philtrum	HP:0040281	ORPHA:261330
613	BCR	HP:0001660	Truncus arteriosus	HP:0040282	ORPHA:261330
613	BCR	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:261330
613	BCR	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:261330
613	BCR	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:261330
613	BCR	HP:0001622	Premature birth	HP:0040281	ORPHA:261330
613	BCR	HP:0000307	Pointed chin	HP:0040282	ORPHA:261330
613	BCR	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:261330
613	BCR	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:261330
613	BCR	HP:0000490	Deeply set eye	HP:0040282	ORPHA:261330
613	BCR	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:261330
613	BCR	HP:0001763	Pes planus	HP:0040282	ORPHA:261330
613	BCR	HP:0000453	Choanal atresia	HP:0040283	ORPHA:261330
613	BCR	HP:0001744	Splenomegaly	HP:0040282	ORPHA:521
613	BCR	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:261330
613	BCR	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:261330
613	BCR	HP:0006721	Acute lymphoblastic leukemia	-	OMIM:613065
613	BCR	HP:0001852	Sandal gap	HP:0040283	ORPHA:261330
613	BCR	HP:0001802	Absent toenail	HP:0040282	ORPHA:261330
613	BCR	HP:0001817	Absent fingernail	HP:0040282	ORPHA:261330
613	BCR	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:261330
613	BCR	HP:0001894	Thrombocytosis	HP:0040282	ORPHA:521
613	BCR	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040282	ORPHA:521
613	BCR	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:521
617	BCS1L	HP:0003777	Pili torti	HP:0040281	ORPHA:123
617	BCS1L	HP:0003777	Pili torti	5/5	OMIM:262000
617	BCS1L	HP:0001290	Generalized hypotonia	-	OMIM:124000
617	BCS1L	HP:0001272	Cerebellar atrophy	1/2	OMIM:124000
617	BCS1L	HP:0001250	Seizure	-	OMIM:124000
617	BCS1L	HP:0001252	Hypotonia	-	OMIM:124000
617	BCS1L	HP:0001251	Ataxia	-	OMIM:124000
617	BCS1L	HP:0001249	Intellectual disability	HP:0040283	ORPHA:123
617	BCS1L	HP:0001249	Intellectual disability	HP:0040283	OMIM:262000
617	BCS1L	HP:0001249	Intellectual disability	-	OMIM:124000
617	BCS1L	HP:0001263	Global developmental delay	1/1	OMIM:124000
617	BCS1L	HP:0001257	Spasticity	-	OMIM:124000
617	BCS1L	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:123
617	BCS1L	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:123
617	BCS1L	HP:0003811	Neonatal death	1/2	OMIM:124000
617	BCS1L	HP:0001397	Hepatic steatosis	1/2	OMIM:124000
617	BCS1L	HP:0001397	Hepatic steatosis	HP:0040281	ORPHA:53693
617	BCS1L	HP:0001396	Cholestasis	19/20	OMIM:603358
617	BCS1L	HP:0001396	Cholestasis	1/2	OMIM:124000
617	BCS1L	HP:0001396	Cholestasis	HP:0040281	ORPHA:53693
617	BCS1L	HP:0001394	Cirrhosis	HP:0040281	ORPHA:53693
617	BCS1L	HP:0001347	Hyperreflexia	-	OMIM:124000
617	BCS1L	HP:0000035	Abnormal testis morphology	HP:0040282	ORPHA:123
617	BCS1L	HP:0008872	Feeding difficulties in infancy	-	OMIM:124000
617	BCS1L	HP:0001324	Muscle weakness	-	OMIM:124000
617	BCS1L	HP:0000007	Autosomal recessive inheritance	-	OMIM:124000
617	BCS1L	HP:0000007	Autosomal recessive inheritance	-	OMIM:262000
617	BCS1L	HP:0000007	Autosomal recessive inheritance	-	OMIM:603358
617	BCS1L	HP:0001319	Neonatal hypotonia	3/20	OMIM:603358
617	BCS1L	HP:0000135	Hypogonadism	0/3	OMIM:262000
617	BCS1L	HP:0000135	Hypogonadism	HP:0040283	ORPHA:123
617	BCS1L	HP:0008936	Axial hypotonia	1/2	OMIM:124000
617	BCS1L	HP:0001427	Mitochondrial inheritance	-	OMIM:124000
617	BCS1L	HP:0001410	Decreased liver function	2/2	OMIM:124000
617	BCS1L	HP:0001405	Periportal fibrosis	2/2	OMIM:124000
617	BCS1L	HP:0001414	Microvesicular hepatic steatosis	2/2	OMIM:124000
617	BCS1L	HP:0003355	Aminoaciduria	20/20	OMIM:603358
617	BCS1L	HP:0003355	Aminoaciduria	1/2	OMIM:124000
617	BCS1L	HP:0003329	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes	-	OMIM:262000
617	BCS1L	HP:0030948	Elevated gamma-glutamyltransferase level	1/2	OMIM:124000
617	BCS1L	HP:0002059	Cerebral atrophy	-	OMIM:124000
617	BCS1L	HP:0002151	Increased circulating lactate concentration	-	OMIM:124000
617	BCS1L	HP:0003452	Increased circulating iron concentration	-	OMIM:603358
617	BCS1L	HP:0011924	Decreased activity of mitochondrial complex III	2/2	OMIM:124000
617	BCS1L	HP:0002188	Delayed CNS myelination	1/2	OMIM:124000
617	BCS1L	HP:0002171	Gliosis	1/2	OMIM:124000
617	BCS1L	HP:0003593	Infantile onset	5/5	OMIM:262000
617	BCS1L	HP:0003577	Congenital onset	2/2	OMIM:124000
617	BCS1L	HP:0003546	Exercise intolerance	-	OMIM:124000
617	BCS1L	HP:0002231	Sparse body hair	HP:0040281	ORPHA:123
617	BCS1L	HP:0002213	Fine hair	HP:0040282	ORPHA:123
617	BCS1L	HP:0003542	Increased circulating pyruvate concentration	-	OMIM:603358
617	BCS1L	HP:0002208	Coarse hair	-	OMIM:262000
617	BCS1L	HP:0002299	Brittle hair	-	OMIM:124000
617	BCS1L	HP:0002299	Brittle hair	HP:0040281	ORPHA:123
617	BCS1L	HP:0002299	Brittle hair	-	OMIM:262000
617	BCS1L	HP:0002353	EEG abnormality	-	OMIM:124000
617	BCS1L	HP:0003648	Lacticaciduria	1/2	OMIM:124000
617	BCS1L	HP:0100613	Death in early adulthood	HP:0040282	ORPHA:53693
617	BCS1L	HP:0004925	Chronic lactic acidosis	-	OMIM:603358
617	BCS1L	HP:0004900	Severe lactic acidosis	1/2	OMIM:124000
617	BCS1L	HP:0001970	Tubulointerstitial nephritis	-	OMIM:124000
617	BCS1L	HP:0001943	Hypoglycemia	2/2	OMIM:124000
617	BCS1L	HP:0001942	Metabolic acidosis	2/2	OMIM:124000
617	BCS1L	HP:0011359	Dry hair	-	OMIM:262000
617	BCS1L	HP:0001988	Recurrent hypoglycemia	2/2	OMIM:124000
617	BCS1L	HP:0001994	Renal Fanconi syndrome	HP:0040281	ORPHA:53693
617	BCS1L	HP:0003074	Hyperglycemia	1/2	OMIM:124000
617	BCS1L	HP:0000738	Hallucinations	-	OMIM:124000
617	BCS1L	HP:0000716	Depression	-	OMIM:124000
617	BCS1L	HP:0000712	Emotional lability	-	OMIM:124000
617	BCS1L	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/2	OMIM:124000
617	BCS1L	HP:0003128	Lactic acidosis	2/2	OMIM:124000
617	BCS1L	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:53693
617	BCS1L	HP:0003231	Hypertyrosinemia	1/2	OMIM:124000
617	BCS1L	HP:0003200	Ragged-red muscle fibers	-	OMIM:124000
617	BCS1L	HP:0003201	Rhabdomyolysis	-	OMIM:124000
617	BCS1L	HP:0003281	Increased circulating ferritin concentration	-	OMIM:603358
617	BCS1L	HP:0003281	Increased circulating ferritin concentration	HP:0040281	ORPHA:53693
617	BCS1L	HP:0000970	Anhidrosis	5/5	OMIM:262000
617	BCS1L	HP:0001596	Alopecia	HP:0040281	ORPHA:123
617	BCS1L	HP:0001596	Alopecia	5/5	OMIM:262000
617	BCS1L	HP:0032653	Elevated lactate:pyruvate ratio	2/2	OMIM:124000
617	BCS1L	HP:0001508	Failure to thrive	1/1	OMIM:124000
617	BCS1L	HP:0001511	Intrauterine growth retardation	-	OMIM:603358
617	BCS1L	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:53693
617	BCS1L	HP:0006558	Decreased mitochondrial complex III activity in liver tissue	-	OMIM:124000
617	BCS1L	HP:0002910	Elevated circulating hepatic transaminase concentration	2/2	OMIM:124000
617	BCS1L	HP:0000365	Hearing impairment	HP:0040281	ORPHA:53693
617	BCS1L	HP:0000365	Hearing impairment	HP:0040283	OMIM:124000
617	BCS1L	HP:0030151	Cholangitis	-	OMIM:124000
617	BCS1L	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:124000
617	BCS1L	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:123
617	BCS1L	HP:0000407	Sensorineural hearing impairment	5/5	OMIM:262000
617	BCS1L	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:123
617	BCS1L	HP:0012464	Decreased transferrin saturation	HP:0040281	ORPHA:53693
617	BCS1L	HP:0012465	Elevated hepatic iron concentration	HP:0040281	ORPHA:53693
617	BCS1L	HP:0006789	Mitochondrial encephalopathy	-	OMIM:124000
617	BCS1L	HP:0000518	Cataract	-	OMIM:124000
617	BCS1L	HP:0000510	Rod-cone dystrophy	-	OMIM:124000
617	BCS1L	HP:0000508	Ptosis	1/2	OMIM:124000
627	BDNF	HP:0007299	Dysfunction of lateral corticospinal tracts	HP:0040283	ORPHA:893
627	BDNF	HP:0001250	Seizure	HP:0040283	ORPHA:661
627	BDNF	HP:0001252	Hypotonia	HP:0040283	ORPHA:661
627	BDNF	HP:0001249	Intellectual disability	HP:0040282	ORPHA:893
627	BDNF	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:893
627	BDNF	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:893
627	BDNF	HP:0002650	Scoliosis	HP:0040283	ORPHA:893
627	BDNF	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:661
627	BDNF	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:661
627	BDNF	HP:0002270	Abnormality of the autonomic nervous system	HP:0040281	ORPHA:661
627	BDNF	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:661
627	BDNF	HP:0100627	Displacement of the urethral meatus	HP:0040282	ORPHA:893
627	BDNF	HP:0000639	Nystagmus	HP:0040282	ORPHA:893
627	BDNF	HP:0004322	Short stature	HP:0040282	ORPHA:893
627	BDNF	HP:0003005	Ganglioneuroma	HP:0040283	ORPHA:661
627	BDNF	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:661
627	BDNF	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:661
627	BDNF	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040281	ORPHA:893
627	BDNF	HP:0000252	Microcephaly	HP:0040282	ORPHA:893
627	BDNF	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:893
627	BDNF	HP:0001513	Obesity	HP:0040283	ORPHA:893
627	BDNF	HP:0000364	Hearing abnormality	HP:0040282	ORPHA:893
627	BDNF	HP:0000347	Micrognathia	HP:0040282	ORPHA:893
627	BDNF	HP:0006747	Ganglioneuroblastoma	HP:0040283	ORPHA:661
627	BDNF	HP:0000518	Cataract	HP:0040282	ORPHA:893
627	BDNF	HP:0000508	Ptosis	HP:0040282	ORPHA:893
627	BDNF	HP:0000505	Visual impairment	HP:0040282	ORPHA:893
627	BDNF	HP:0000501	Glaucoma	HP:0040283	ORPHA:893
629	CFB	HP:0001287	Meningitis	-	OMIM:615561
629	CFB	HP:0002586	Peritonitis	-	OMIM:615561
629	CFB	HP:0000093	Proteinuria	-	OMIM:612924
629	CFB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615561
629	CFB	HP:0000006	Autosomal dominant inheritance	-	OMIM:612924
629	CFB	HP:0002718	Recurrent bacterial infections	-	OMIM:615561
629	CFB	HP:0002090	Pneumonia	-	OMIM:615561
629	CFB	HP:0100519	Anuria	-	OMIM:612924
629	CFB	HP:0005575	Hemolytic-uremic syndrome	9/12	OMIM:612924
629	CFB	HP:0001937	Microangiopathic hemolytic anemia	-	OMIM:612924
629	CFB	HP:0001903	Anemia	-	OMIM:612924
629	CFB	HP:0001919	Acute kidney injury	-	OMIM:612924
629	CFB	HP:0011463	Childhood onset	-	OMIM:615561
629	CFB	HP:0000790	Hematuria	-	OMIM:612924
629	CFB	HP:0003138	Increased blood urea nitrogen	-	OMIM:612924
629	CFB	HP:0000822	Hypertension	HP:0040282	OMIM:612924
629	CFB	HP:0003259	Elevated circulating creatinine concentration	-	OMIM:612924
629	CFB	HP:0005381	Recurrent meningococcal disease	-	OMIM:615561
629	CFB	HP:0005416	Decreased circulating complement factor B concentration	-	OMIM:615561
629	CFB	HP:0001873	Thrombocytopenia	-	OMIM:612924
631	BFSP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:611391
631	BFSP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:611391
631	BFSP1	HP:0003621	Juvenile onset	10/11	OMIM:611391
631	BFSP1	HP:0100018	Nuclear cataract	-	OMIM:611391
631	BFSP1	HP:0100019	Cortical cataract	3/3	OMIM:611391
631	BFSP1	HP:0011463	Childhood onset	1/11	OMIM:611391
631	BFSP1	HP:0007971	Lamellar cataract	-	OMIM:611391
633	BGN	HP:0009901	Crumpled ear	90/119	OMIM:121050
633	BGN	HP:0001181	Adducted thumb	42/90	OMIM:121050
633	BGN	HP:0001156	Brachydactyly	3/7	OMIM:300989
633	BGN	HP:0001156	Brachydactyly	9/9	OMIM:300106
633	BGN	HP:0001166	Arachnodactyly	104/124	OMIM:121050
633	BGN	HP:0001166	Arachnodactyly	124/197	OMIM:154700
633	BGN	HP:0001166	Arachnodactyly	4/10	OMIM:300989
633	BGN	HP:0001166	Arachnodactyly	34/37	OMIM:182212
633	BGN	HP:0001166	Arachnodactyly	6/15	OMIM:208050
633	BGN	HP:0003745	Sporadic	-	OMIM:182212
633	BGN	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
633	BGN	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
633	BGN	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
633	BGN	HP:0001293	Cranial nerve compression	-	OMIM:131300
633	BGN	HP:0001290	Generalized hypotonia	-	OMIM:208050
633	BGN	HP:0001290	Generalized hypotonia	-	OMIM:182212
633	BGN	HP:0001270	Motor delay	-	OMIM:121050
633	BGN	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
633	BGN	HP:0001252	Hypotonia	2/7	OMIM:615777
633	BGN	HP:0001252	Hypotonia	26/37	OMIM:182212
633	BGN	HP:0001249	Intellectual disability	0/8	OMIM:300106
633	BGN	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
633	BGN	HP:0001249	Intellectual disability	5/7	OMIM:615777
633	BGN	HP:0001249	Intellectual disability	-	OMIM:182212
633	BGN	HP:0001263	Global developmental delay	-	OMIM:615777
633	BGN	HP:0001263	Global developmental delay	-	OMIM:182212
633	BGN	HP:0001230	Broad metacarpals	-	OMIM:300106
633	BGN	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
633	BGN	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
633	BGN	HP:0006059	Cone-shaped metacarpal epiphyses	-	OMIM:300106
633	BGN	HP:0006009	Broad phalanx	-	OMIM:300106
633	BGN	HP:0001216	Delayed ossification of carpal bones	-	OMIM:300106
633	BGN	HP:0002515	Waddling gait	54/102	OMIM:131300
633	BGN	HP:0002515	Waddling gait	9/9	OMIM:300106
633	BGN	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
633	BGN	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
633	BGN	HP:0000098	Tall stature	-	OMIM:154700
633	BGN	HP:0001377	Limited elbow extension	94/109	OMIM:121050
633	BGN	HP:0001377	Limited elbow extension	29/199	OMIM:154700
633	BGN	HP:0001377	Limited elbow extension	-	OMIM:300106
633	BGN	HP:0001371	Flexion contracture	-	OMIM:208050
633	BGN	HP:0001371	Flexion contracture	-	OMIM:154700
633	BGN	HP:0001373	Joint dislocation	3/7	OMIM:300989
633	BGN	HP:0001382	Joint hypermobility	1/1	OMIM:130050
633	BGN	HP:0001382	Joint hypermobility	8/10	OMIM:300989
633	BGN	HP:0001382	Joint hypermobility	5/9	OMIM:300106
633	BGN	HP:0001382	Joint hypermobility	12/14	OMIM:208050
633	BGN	HP:0001382	Joint hypermobility	11/53	OMIM:154700
633	BGN	HP:0001382	Joint hypermobility	-	OMIM:615777
633	BGN	HP:0001382	Joint hypermobility	31/47	OMIM:182212
633	BGN	HP:0000023	Inguinal hernia	11/11	OMIM:130050
633	BGN	HP:0000023	Inguinal hernia	8/15	OMIM:208050
633	BGN	HP:0000023	Inguinal hernia	19/34	OMIM:182212
633	BGN	HP:0001363	Craniosynostosis	18/37	OMIM:182212
633	BGN	HP:0002694	Sclerosis of skull base	-	OMIM:131300
633	BGN	HP:0000028	Cryptorchidism	1/1	OMIM:130050
633	BGN	HP:0000028	Cryptorchidism	1/13	OMIM:182212
633	BGN	HP:0008897	Postnatal growth retardation	-	OMIM:615777
633	BGN	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
633	BGN	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
633	BGN	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
633	BGN	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
633	BGN	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
633	BGN	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
633	BGN	HP:0001324	Muscle weakness	40/96	OMIM:131300
633	BGN	HP:0003988	Long ulna	-	OMIM:300106
633	BGN	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
633	BGN	HP:0002673	Coxa valga	-	OMIM:300106
633	BGN	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
633	BGN	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
633	BGN	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
633	BGN	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
633	BGN	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
633	BGN	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
633	BGN	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
633	BGN	HP:0002650	Scoliosis	16/53	OMIM:154700
633	BGN	HP:0002650	Scoliosis	11/15	OMIM:121050
633	BGN	HP:0002650	Scoliosis	12/14	OMIM:131300
633	BGN	HP:0002650	Scoliosis	3/15	OMIM:208050
633	BGN	HP:0002650	Scoliosis	23/37	OMIM:182212
633	BGN	HP:0002651	Spondyloepimetaphyseal dysplasia	-	OMIM:300106
633	BGN	HP:0002647	Aortic dissection	1/58	OMIM:154700
633	BGN	HP:0002647	Aortic dissection	3/14	OMIM:300989
633	BGN	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
633	BGN	HP:0002619	Varicose veins	-	OMIM:130050
633	BGN	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
633	BGN	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
633	BGN	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
633	BGN	HP:0002616	Aortic root aneurysm	13/15	OMIM:300989
633	BGN	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
633	BGN	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
633	BGN	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
633	BGN	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
633	BGN	HP:0000189	Narrow palate	-	OMIM:182212
633	BGN	HP:0000189	Narrow palate	-	OMIM:154700
633	BGN	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
633	BGN	HP:0000193	Bifid uvula	1/7	OMIM:300989
633	BGN	HP:0000193	Bifid uvula	0/14	OMIM:208050
633	BGN	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
633	BGN	HP:0012151	Hemothorax	3/4	OMIM:130050
633	BGN	HP:0000175	Cleft palate	2/7	OMIM:615777
633	BGN	HP:0000139	Uterine prolapse	-	OMIM:130050
633	BGN	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
633	BGN	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
633	BGN	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
633	BGN	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
633	BGN	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
633	BGN	HP:0001419	X-linked recessive inheritance	-	OMIM:300106
633	BGN	HP:0001417	X-linked inheritance	-	OMIM:300989
633	BGN	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
633	BGN	HP:0002036	Hiatus hernia	-	OMIM:208050
633	BGN	HP:0002007	Frontal bossing	-	OMIM:121050
633	BGN	HP:0002007	Frontal bossing	5/7	OMIM:300989
633	BGN	HP:0002007	Frontal bossing	-	OMIM:182212
633	BGN	HP:0003311	Hypoplasia of the odontoid process	-	OMIM:300106
633	BGN	HP:0003302	Spondylolisthesis	-	OMIM:154700
633	BGN	HP:0002097	Emphysema	8/9	OMIM:130050
633	BGN	HP:0002097	Emphysema	HP:0040283	OMIM:154700
633	BGN	HP:0030961	Microspherophakia	2/53	OMIM:154700
633	BGN	HP:0003388	Easy fatigability	36/76	OMIM:131300
633	BGN	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
633	BGN	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
633	BGN	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
633	BGN	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
633	BGN	HP:0010499	Patellar subluxation	12/22	OMIM:121050
633	BGN	HP:0009486	Radial deviation of the hand	-	OMIM:300106
633	BGN	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
633	BGN	HP:0002140	Ischemic stroke	-	OMIM:208050
633	BGN	HP:0002119	Ventriculomegaly	3/3	OMIM:300989
633	BGN	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
633	BGN	HP:0002107	Pneumothorax	2/2	OMIM:130050
633	BGN	HP:0002107	Pneumothorax	6/53	OMIM:154700
633	BGN	HP:0002105	Hemoptysis	6/10	OMIM:130050
633	BGN	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
633	BGN	HP:0003593	Infantile onset	5/16	OMIM:208050
633	BGN	HP:0003577	Congenital onset	5/5	OMIM:121050
633	BGN	HP:0003577	Congenital onset	12/26	OMIM:208050
633	BGN	HP:0100718	Uterine rupture	-	OMIM:130050
633	BGN	HP:0004872	Incisional hernia	-	OMIM:154700
633	BGN	HP:0100775	Dural ectasia	112/140	OMIM:154700
633	BGN	HP:0100749	Chest pain	1/2	OMIM:130050
633	BGN	HP:0002293	Alopecia of scalp	-	OMIM:130050
633	BGN	HP:0034671	Knee contracture	7/14	OMIM:121050
633	BGN	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
633	BGN	HP:0010648	Dermal translucency	3/3	OMIM:130050
633	BGN	HP:0010646	Cervical spine instability	-	OMIM:300989
633	BGN	HP:0011940	Anterior wedging of T12	-	OMIM:300106
633	BGN	HP:0003510	Severe short stature	7/7	OMIM:615777
633	BGN	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:300106
633	BGN	HP:0007099	Chiari type I malformation	-	OMIM:182212
633	BGN	HP:0001058	Poor wound healing	1/5	OMIM:300989
633	BGN	HP:0025019	Arterial rupture	-	OMIM:130050
633	BGN	HP:0001065	Striae distensae	11/53	OMIM:154700
633	BGN	HP:0001065	Striae distensae	4/9	OMIM:300989
633	BGN	HP:0001030	Fragile skin	-	OMIM:130050
633	BGN	HP:0001027	Soft, doughy skin	-	OMIM:208050
633	BGN	HP:0004981	Prominent styloid process of ulna	-	OMIM:300106
633	BGN	HP:0002315	Headache	-	OMIM:131300
633	BGN	HP:0004976	Knee dislocation	6/7	OMIM:615777
633	BGN	HP:0100645	Cystocele	-	OMIM:130050
633	BGN	HP:0009836	Broad distal phalanx of finger	3/6	OMIM:300989
633	BGN	HP:0001073	Cigarette-paper scars	-	OMIM:130050
633	BGN	HP:0009803	Short phalanx of finger	-	OMIM:615777
633	BGN	HP:0009803	Short phalanx of finger	-	OMIM:300106
633	BGN	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
633	BGN	HP:0001083	Ectopia lentis	119/251	OMIM:154700
633	BGN	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
633	BGN	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
633	BGN	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
633	BGN	HP:0009763	Limb pain	63/92	OMIM:131300
633	BGN	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
633	BGN	HP:0003623	Neonatal onset	3/16	OMIM:208050
633	BGN	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
633	BGN	HP:0004970	Ascending tubular aorta aneurysm	2/5	OMIM:300989
633	BGN	HP:0004937	Pulmonary artery aneurysm	1/15	OMIM:300989
633	BGN	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
633	BGN	HP:0003621	Juvenile onset	-	OMIM:131300
633	BGN	HP:0003621	Juvenile onset	2/16	OMIM:208050
633	BGN	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
633	BGN	HP:0004944	Dilatation of the cerebral artery	1/15	OMIM:300989
633	BGN	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
633	BGN	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
633	BGN	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
633	BGN	HP:0004279	Short palm	-	OMIM:300106
633	BGN	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
633	BGN	HP:6001056	Out-toeing	-	OMIM:131300
633	BGN	HP:0000651	Diplopia	-	OMIM:131300
633	BGN	HP:0001977	Abnormal thrombosis	-	OMIM:208050
633	BGN	HP:0001956	Truncal obesity	2/7	OMIM:615777
633	BGN	HP:0001903	Anemia	1/1	OMIM:130050
633	BGN	HP:0001903	Anemia	HP:0040283	OMIM:131300
633	BGN	HP:0010049	Short metacarpal	-	OMIM:615777
633	BGN	HP:0010049	Short metacarpal	-	OMIM:300106
633	BGN	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
633	BGN	HP:0000678	Dental crowding	8/53	OMIM:154700
633	BGN	HP:0000678	Dental crowding	-	OMIM:615777
633	BGN	HP:0000689	Dental malocclusion	-	OMIM:182212
633	BGN	HP:0000670	Carious teeth	-	OMIM:131300
633	BGN	HP:0011304	Broad thumb	2/7	OMIM:615777
633	BGN	HP:0000668	Hypodontia	-	OMIM:615777
633	BGN	HP:0001999	Abnormal facial shape	0/9	OMIM:300106
633	BGN	HP:0000664	Synophrys	-	OMIM:615777
633	BGN	HP:0004322	Short stature	-	OMIM:130050
633	BGN	HP:0004322	Short stature	5/11	OMIM:300989
633	BGN	HP:0005622	Broad long bones	-	OMIM:300106
633	BGN	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
633	BGN	HP:0003088	Premature osteoarthritis	-	OMIM:154700
633	BGN	HP:0003085	Long fibula	-	OMIM:300106
633	BGN	HP:0003083	Dislocated radial head	5/37	OMIM:182212
633	BGN	HP:0003066	Limited knee extension	38/45	OMIM:121050
633	BGN	HP:0004396	Poor appetite	-	OMIM:131300
633	BGN	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
633	BGN	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
633	BGN	HP:0004379	Abnormality of alkaline phosphatase level	0/17	OMIM:300106
633	BGN	HP:0003042	Elbow dislocation	1/12	OMIM:121050
633	BGN	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
633	BGN	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
633	BGN	HP:0003026	Short long bone	7/7	OMIM:615777
633	BGN	HP:0003026	Short long bone	-	OMIM:300106
633	BGN	HP:0003025	Metaphyseal irregularity	-	OMIM:300106
633	BGN	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
633	BGN	HP:0005684	Distal arthrogryposis	-	OMIM:121050
633	BGN	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
633	BGN	HP:0000767	Pectus excavatum	2/14	OMIM:121050
633	BGN	HP:0000767	Pectus excavatum	1/4	OMIM:130050
633	BGN	HP:0000767	Pectus excavatum	3/15	OMIM:208050
633	BGN	HP:0000767	Pectus excavatum	44/146	OMIM:154700
633	BGN	HP:0000767	Pectus excavatum	2/7	OMIM:615777
633	BGN	HP:0000767	Pectus excavatum	-	OMIM:182212
633	BGN	HP:0000766	Abnormal sternum morphology	4/10	OMIM:300989
633	BGN	HP:0000768	Pectus carinatum	4/14	OMIM:121050
633	BGN	HP:0000768	Pectus carinatum	-	OMIM:300106
633	BGN	HP:0000768	Pectus carinatum	2/15	OMIM:208050
633	BGN	HP:0000768	Pectus carinatum	58/146	OMIM:154700
633	BGN	HP:0000768	Pectus carinatum	1/7	OMIM:615777
633	BGN	HP:0000768	Pectus carinatum	-	OMIM:182212
633	BGN	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
633	BGN	HP:0000750	Delayed speech and language development	-	OMIM:615777
633	BGN	HP:0000704	Periodontitis	-	OMIM:130050
633	BGN	HP:0011463	Childhood onset	9/9	OMIM:300106
633	BGN	HP:0011463	Childhood onset	1/16	OMIM:208050
633	BGN	HP:0011462	Young adult onset	3/16	OMIM:208050
633	BGN	HP:0011461	Fetal onset	7/7	OMIM:615777
633	BGN	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
633	BGN	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
633	BGN	HP:0000774	Narrow chest	2/7	OMIM:615777
633	BGN	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
633	BGN	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
633	BGN	HP:0030799	Scaphocephaly	-	OMIM:121050
633	BGN	HP:0003199	Decreased muscle mass	-	OMIM:154700
633	BGN	HP:0000926	Platyspondyly	3/3	OMIM:300106
633	BGN	HP:0000926	Platyspondyly	1/7	OMIM:615777
633	BGN	HP:0000922	Posterior rib cupping	-	OMIM:300106
633	BGN	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
633	BGN	HP:0003180	Flat acetabular roof	-	OMIM:615777
633	BGN	HP:0003180	Flat acetabular roof	-	OMIM:300106
633	BGN	HP:0004482	Relative macrocephaly	-	OMIM:615777
633	BGN	HP:0004482	Relative macrocephaly	3/3	OMIM:300989
633	BGN	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
633	BGN	HP:0000883	Thin ribs	-	OMIM:182212
633	BGN	HP:0000822	Hypertension	-	OMIM:208050
633	BGN	HP:0000823	Delayed puberty	-	OMIM:131300
633	BGN	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	-	OMIM:300106
633	BGN	HP:0000895	Lateral clavicle hook	-	OMIM:182212
633	BGN	HP:0000894	Short clavicles	-	OMIM:615777
633	BGN	HP:0000894	Short clavicles	-	OMIM:300106
633	BGN	HP:0004573	Anterior wedging of T11	-	OMIM:300106
633	BGN	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
633	BGN	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
633	BGN	HP:0034392	Joint contracture	4/7	OMIM:300989
633	BGN	HP:0034391	Elbow contracture	10/14	OMIM:121050
633	BGN	HP:0003275	Narrow pelvis bone	-	OMIM:300106
633	BGN	HP:0003273	Hip contracture	32/121	OMIM:121050
633	BGN	HP:0000998	Hypertrichosis	2/3	OMIM:300989
633	BGN	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
633	BGN	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
633	BGN	HP:0000978	Bruising susceptibility	1/5	OMIM:300989
633	BGN	HP:0000978	Bruising susceptibility	-	OMIM:208050
633	BGN	HP:0000977	Soft skin	7/15	OMIM:208050
633	BGN	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
633	BGN	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
633	BGN	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
633	BGN	HP:0000973	Cutis laxa	5/14	OMIM:208050
633	BGN	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
633	BGN	HP:0000963	Thin skin	4/13	OMIM:208050
633	BGN	HP:0000938	Osteopenia	-	OMIM:121050
633	BGN	HP:0000938	Osteopenia	-	OMIM:182212
633	BGN	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
633	BGN	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
633	BGN	HP:0000286	Epicanthus	1/7	OMIM:615777
633	BGN	HP:0025586	Hypertropia	8/573	OMIM:154700
633	BGN	HP:0000280	Coarse facial features	2/7	OMIM:615777
633	BGN	HP:0000278	Retrognathia	-	OMIM:154700
633	BGN	HP:0000260	Wide anterior fontanel	-	OMIM:182212
633	BGN	HP:0000275	Narrow face	-	OMIM:154700
633	BGN	HP:0000276	Long face	14/14	OMIM:208050
633	BGN	HP:0000276	Long face	-	OMIM:154700
633	BGN	HP:0000272	Malar flattening	9/14	OMIM:208050
633	BGN	HP:0000272	Malar flattening	31/53	OMIM:154700
633	BGN	HP:0000272	Malar flattening	7/8	OMIM:300989
633	BGN	HP:0000268	Dolichocephaly	-	OMIM:121050
633	BGN	HP:0000268	Dolichocephaly	36/53	OMIM:154700
633	BGN	HP:0000268	Dolichocephaly	4/7	OMIM:300989
633	BGN	HP:0000268	Dolichocephaly	28/37	OMIM:182212
633	BGN	HP:0005136	Mitral annular calcification	-	OMIM:154700
633	BGN	HP:0002816	Genu recurvatum	-	OMIM:182212
633	BGN	HP:0002816	Genu recurvatum	-	OMIM:154700
633	BGN	HP:0002827	Hip dislocation	3/7	OMIM:615777
633	BGN	HP:0002808	Kyphosis	-	OMIM:300106
633	BGN	HP:0005066	Cone-shaped epiphyses fused within their metaphyses	-	OMIM:300106
633	BGN	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
633	BGN	HP:0006371	Broad long bone diaphyses	-	OMIM:300106
633	BGN	HP:0000244	Brachyturricephaly	-	OMIM:182212
633	BGN	HP:0000238	Hydrocephalus	13/37	OMIM:182212
633	BGN	HP:0000252	Microcephaly	-	OMIM:615777
633	BGN	HP:0000252	Microcephaly	6/37	OMIM:182212
633	BGN	HP:0000248	Brachycephaly	-	OMIM:121050
633	BGN	HP:0000218	High palate	2/5	OMIM:300989
633	BGN	HP:0000218	High palate	34/53	OMIM:154700
633	BGN	HP:0000218	High palate	30/102	OMIM:121050
633	BGN	HP:0000218	High palate	5/13	OMIM:208050
633	BGN	HP:0000218	High palate	30/37	OMIM:182212
633	BGN	HP:0000212	Gingival overgrowth	2/3	OMIM:300989
633	BGN	HP:0000233	Thin vermilion border	-	OMIM:130050
633	BGN	HP:0030009	Cervical insufficiency	-	OMIM:130050
633	BGN	HP:0002857	Genu valgum	-	OMIM:131300
633	BGN	HP:0002857	Genu valgum	4/37	OMIM:182212
633	BGN	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
633	BGN	HP:0002869	Flared iliac wing	-	OMIM:300106
633	BGN	HP:0001537	Umbilical hernia	-	OMIM:208050
633	BGN	HP:0001537	Umbilical hernia	1/6	OMIM:300989
633	BGN	HP:0001537	Umbilical hernia	13/37	OMIM:182212
633	BGN	HP:0001533	Slender build	-	OMIM:131300
633	BGN	HP:0031364	Ecchymosis	-	OMIM:130050
633	BGN	HP:0001519	Disproportionate tall stature	-	OMIM:121050
633	BGN	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
633	BGN	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
633	BGN	HP:0007807	Optic nerve compression	-	OMIM:131300
633	BGN	HP:0007800	Increased axial length of the globe	-	OMIM:154700
633	BGN	HP:0012385	Camptodactyly	86/110	OMIM:121050
633	BGN	HP:0012385	Camptodactyly	19/53	OMIM:154700
633	BGN	HP:0012385	Camptodactyly	-	OMIM:300989
633	BGN	HP:0012385	Camptodactyly	24/37	OMIM:182212
633	BGN	HP:0000387	Absent earlobe	-	OMIM:130050
633	BGN	HP:0012368	Flat face	7/7	OMIM:615777
633	BGN	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
633	BGN	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
633	BGN	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
633	BGN	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
633	BGN	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
633	BGN	HP:0002938	Lumbar hyperlordosis	7/8	OMIM:300106
633	BGN	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
633	BGN	HP:0006480	Premature loss of teeth	-	OMIM:130050
633	BGN	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
633	BGN	HP:0000365	Hearing impairment	10/67	OMIM:131300
633	BGN	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
633	BGN	HP:0000369	Low-set ears	32/37	OMIM:182212
633	BGN	HP:0000343	Long philtrum	-	OMIM:208050
633	BGN	HP:0000343	Long philtrum	1/7	OMIM:615777
633	BGN	HP:0011001	Increased bone mineral density	-	OMIM:131300
633	BGN	HP:0002999	Patellar dislocation	2/20	OMIM:121050
633	BGN	HP:0000347	Micrognathia	-	OMIM:154700
633	BGN	HP:0000347	Micrognathia	26/94	OMIM:121050
633	BGN	HP:0000347	Micrognathia	5/14	OMIM:208050
633	BGN	HP:0000347	Micrognathia	33/37	OMIM:182212
633	BGN	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
633	BGN	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
633	BGN	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
633	BGN	HP:0000316	Hypertelorism	8/11	OMIM:300989
633	BGN	HP:0000316	Hypertelorism	6/16	OMIM:208050
633	BGN	HP:0000316	Hypertelorism	28/37	OMIM:182212
633	BGN	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
633	BGN	HP:0000311	Round face	2/7	OMIM:615777
633	BGN	HP:0000327	Hypoplasia of the maxilla	-	OMIM:300106
633	BGN	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
633	BGN	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
633	BGN	HP:0001659	Aortic regurgitation	-	OMIM:208050
633	BGN	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
633	BGN	HP:0001653	Mitral regurgitation	-	OMIM:121050
633	BGN	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
633	BGN	HP:0001629	Ventricular septal defect	-	OMIM:121050
633	BGN	HP:0002970	Genu varum	-	OMIM:615777
633	BGN	HP:0002970	Genu varum	9/9	OMIM:300106
633	BGN	HP:0001635	Congestive heart failure	-	OMIM:154700
633	BGN	HP:0001631	Atrial septal defect	-	OMIM:121050
633	BGN	HP:0000303	Mandibular prognathia	-	OMIM:131300
633	BGN	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
633	BGN	HP:0001634	Mitral valve prolapse	-	OMIM:130050
633	BGN	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
633	BGN	HP:0001634	Mitral valve prolapse	1/15	OMIM:300989
633	BGN	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
633	BGN	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
633	BGN	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
633	BGN	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
633	BGN	HP:0004000	Cone-shaped distal radial epiphysis	-	OMIM:300106
633	BGN	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
633	BGN	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
633	BGN	HP:0000400	Macrotia	7/15	OMIM:208050
633	BGN	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
633	BGN	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
633	BGN	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
633	BGN	HP:0000483	Astigmatism	3/53	OMIM:154700
633	BGN	HP:0000483	Astigmatism	5/15	OMIM:208050
633	BGN	HP:0000486	Strabismus	110/573	OMIM:154700
633	BGN	HP:0000486	Strabismus	17/37	OMIM:182212
633	BGN	HP:0000494	Downslanted palpebral fissures	6/7	OMIM:300989
633	BGN	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
633	BGN	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
633	BGN	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
633	BGN	HP:0000490	Deeply set eye	25/63	OMIM:154700
633	BGN	HP:0000463	Anteverted nares	9/37	OMIM:182212
633	BGN	HP:0001786	Narrow foot	33/53	OMIM:154700
633	BGN	HP:0000470	Short neck	-	OMIM:121050
633	BGN	HP:0000470	Short neck	1/7	OMIM:615777
633	BGN	HP:0001773	Short foot	-	OMIM:300106
633	BGN	HP:0001769	Broad foot	HP:0040283	OMIM:615777
633	BGN	HP:0001763	Pes planus	27/53	OMIM:154700
633	BGN	HP:0001763	Pes planus	1/7	OMIM:615777
633	BGN	HP:0001763	Pes planus	5/9	OMIM:300989
633	BGN	HP:0001763	Pes planus	-	OMIM:182212
633	BGN	HP:0001765	Hammertoe	-	OMIM:154700
633	BGN	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
633	BGN	HP:0000418	Narrow nasal ridge	-	OMIM:130050
633	BGN	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
633	BGN	HP:0001762	Talipes equinovarus	-	OMIM:130050
633	BGN	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
633	BGN	HP:0001761	Pes cavus	49/146	OMIM:154700
633	BGN	HP:0000518	Cataract	118/199	OMIM:154700
633	BGN	HP:0001840	Metatarsus adductus	-	OMIM:121050
633	BGN	HP:0001840	Metatarsus adductus	-	OMIM:182212
633	BGN	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
633	BGN	HP:0001840	Metatarsus adductus	-	OMIM:615777
633	BGN	HP:0001842	Foot acroosteolysis	-	OMIM:130050
633	BGN	HP:0000520	Proptosis	2/4	OMIM:131300
633	BGN	HP:0000520	Proptosis	7/7	OMIM:615777
633	BGN	HP:0000520	Proptosis	5/8	OMIM:300989
633	BGN	HP:0000520	Proptosis	29/37	OMIM:182212
633	BGN	HP:0000506	Telecanthus	-	OMIM:182212
633	BGN	HP:0000508	Ptosis	16/37	OMIM:182212
633	BGN	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
633	BGN	HP:0000501	Glaucoma	29/625	OMIM:154700
633	BGN	HP:0000581	Blepharophimosis	-	OMIM:208050
633	BGN	HP:0000577	Exotropia	72/626	OMIM:154700
633	BGN	HP:0000592	Blue sclerae	2/7	OMIM:615777
633	BGN	HP:0000586	Shallow orbits	13/37	OMIM:182212
633	BGN	HP:0000563	Keratoconus	-	OMIM:130050
633	BGN	HP:0000563	Keratoconus	3/14	OMIM:208050
633	BGN	HP:0011220	Prominent forehead	17/37	OMIM:182212
633	BGN	HP:0000565	Esotropia	12/573	OMIM:154700
633	BGN	HP:0000541	Retinal detachment	-	OMIM:154700
633	BGN	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
633	BGN	HP:0001883	Talipes	13/53	OMIM:154700
633	BGN	HP:0012514	Lower limb pain	4/4	OMIM:131300
633	BGN	HP:0000545	Myopia	-	OMIM:121050
633	BGN	HP:0000545	Myopia	6/15	OMIM:208050
633	BGN	HP:0000545	Myopia	93/251	OMIM:154700
633	BGN	HP:0000545	Myopia	9/37	OMIM:182212
640	BLK	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
640	BLK	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
640	BLK	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
640	BLK	HP:0001250	Seizure	HP:0040283	ORPHA:536
640	BLK	HP:0002594	Pancreatic hypoplasia	HP:0040284	ORPHA:552
640	BLK	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
640	BLK	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
640	BLK	HP:0000077	Abnormality of the kidney	HP:0040284	ORPHA:552
640	BLK	HP:0012028	Hepatocellular adenoma	HP:0040284	ORPHA:552
640	BLK	HP:0001369	Arthritis	HP:0040282	ORPHA:536
640	BLK	HP:0033834	Malaise	HP:0040281	ORPHA:536
640	BLK	HP:0012085	Pyuria	HP:0040282	ORPHA:536
640	BLK	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
640	BLK	HP:0025300	Malar rash	HP:0040282	ORPHA:536
640	BLK	HP:0000006	Autosomal dominant inheritance	-	OMIM:613375
640	BLK	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
640	BLK	HP:0000119	Abnormality of the genitourinary system	HP:0040284	ORPHA:552
640	BLK	HP:0000112	Nephropathy	HP:0040283	ORPHA:552
640	BLK	HP:0000107	Renal cyst	HP:0040284	ORPHA:552
640	BLK	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
640	BLK	HP:0002072	Chorea	HP:0040284	ORPHA:536
640	BLK	HP:0002039	Anorexia	HP:0040281	ORPHA:536
640	BLK	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
640	BLK	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
640	BLK	HP:0008255	Transient neonatal diabetes mellitus	HP:0040283	ORPHA:552
640	BLK	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
640	BLK	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
640	BLK	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
640	BLK	HP:0004924	Abnormal oral glucose tolerance	HP:0040282	ORPHA:552
640	BLK	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
640	BLK	HP:0004904	Maturity-onset diabetes of the young	-	OMIM:613375
640	BLK	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
640	BLK	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
640	BLK	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
640	BLK	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
640	BLK	HP:0001945	Fever	HP:0040281	ORPHA:536
640	BLK	HP:0001953	Diabetic ketoacidosis	-	ORPHA:552
640	BLK	HP:0001952	Glucose intolerance	HP:0040282	ORPHA:552
640	BLK	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:552
640	BLK	HP:0003076	Glycosuria	HP:0040282	ORPHA:552
640	BLK	HP:0003074	Hyperglycemia	HP:0040282	ORPHA:552
640	BLK	HP:0000716	Depression	HP:0040283	ORPHA:536
640	BLK	HP:0011462	Young adult onset	-	OMIM:613375
640	BLK	HP:0000790	Hematuria	HP:0040282	ORPHA:536
640	BLK	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
640	BLK	HP:0030794	Abnormal circulating C-peptide concentration	HP:0040282	ORPHA:552
640	BLK	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040283	ORPHA:552
640	BLK	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040283	ORPHA:552
640	BLK	HP:0000822	Hypertension	HP:0040282	ORPHA:536
640	BLK	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
640	BLK	HP:0040214	Abnormal circulating insulin concentration	HP:0040282	ORPHA:552
640	BLK	HP:0040217	Elevated hemoglobin A1c	HP:0040282	ORPHA:552
640	BLK	HP:0040216	Hypoinsulinemia	HP:0040282	ORPHA:552
640	BLK	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
640	BLK	HP:0045073	Serositis	HP:0040283	ORPHA:536
640	BLK	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
640	BLK	HP:0000956	Acanthosis nigricans	-	ORPHA:552
640	BLK	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
640	BLK	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
640	BLK	HP:0001596	Alopecia	HP:0040282	ORPHA:536
640	BLK	HP:0030057	Autoimmune antibody positivity	-	ORPHA:552
640	BLK	HP:0025502	Overweight	HP:0040283	ORPHA:552
640	BLK	HP:0025502	Overweight	-	OMIM:613375
640	BLK	HP:0001520	Large for gestational age	HP:0040283	ORPHA:552
640	BLK	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:552
640	BLK	HP:0001513	Obesity	HP:0040284	ORPHA:552
640	BLK	HP:0001513	Obesity	-	OMIM:613375
640	BLK	HP:0012378	Fatigue	HP:0040281	ORPHA:536
640	BLK	HP:0001738	Exocrine pancreatic insufficiency	HP:0040284	ORPHA:552
640	BLK	HP:0000488	Retinopathy	HP:0040283	ORPHA:552
640	BLK	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
640	BLK	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
640	BLK	HP:0001824	Weight loss	HP:0040281	ORPHA:536
640	BLK	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
640	BLK	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
640	BLK	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
641	BLM	HP:0001161	Hand polydactyly	-	OMIM:210900
641	BLM	HP:0001159	Syndactyly	-	OMIM:210900
641	BLM	HP:0032218	Decreased proportion of CD4-positive T cells	HP:0040282	ORPHA:125
641	BLM	HP:0100825	Cheilitis	HP:0040283	ORPHA:125
641	BLM	HP:0001256	Intellectual disability, mild	HP:0040283	OMIM:210900
641	BLM	HP:0001397	Hepatic steatosis	1/1	OMIM:210900
641	BLM	HP:0000028	Cryptorchidism	-	OMIM:210900
641	BLM	HP:0000027	Azoospermia	-	OMIM:210900
641	BLM	HP:0000027	Azoospermia	HP:0040283	ORPHA:125
641	BLM	HP:0008897	Postnatal growth retardation	-	OMIM:210900
641	BLM	HP:0008887	Adipose tissue loss	HP:0040281	ORPHA:125
641	BLM	HP:0008850	Severe postnatal growth retardation	HP:0040281	ORPHA:125
641	BLM	HP:0002664	Neoplasm	HP:0040282	ORPHA:125
641	BLM	HP:0025300	Malar rash	5/5	OMIM:210900
641	BLM	HP:0001328	Specific learning disability	-	OMIM:210900
641	BLM	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:125
641	BLM	HP:0000007	Autosomal recessive inheritance	-	OMIM:210900
641	BLM	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:125
641	BLM	HP:0002665	Lymphoma	-	OMIM:210900
641	BLM	HP:0002665	Lymphoma	HP:0040283	ORPHA:125
641	BLM	HP:0031123	Recurrent gastroenteritis	HP:0040283	ORPHA:125
641	BLM	HP:0012126	Stomach cancer	HP:0040284	ORPHA:125
641	BLM	HP:0002788	Recurrent upper respiratory tract infections	7/7	OMIM:210900
641	BLM	HP:0002719	Recurrent infections	HP:0040282	ORPHA:125
641	BLM	HP:0002715	Abnormality of the immune system	HP:0040281	ORPHA:125
641	BLM	HP:0002720	Decreased circulating IgA concentration	-	OMIM:210900
641	BLM	HP:0002720	Decreased circulating IgA concentration	HP:0040282	ORPHA:125
641	BLM	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:125
641	BLM	HP:0005978	Type II diabetes mellitus	1/1	OMIM:210900
641	BLM	HP:0002090	Pneumonia	HP:0040283	ORPHA:125
641	BLM	HP:0002110	Bronchiectasis	-	OMIM:210900
641	BLM	HP:0008209	Premature ovarian insufficiency	HP:0040282	ORPHA:125
641	BLM	HP:0003593	Infantile onset	1/1	OMIM:210900
641	BLM	HP:0003577	Congenital onset	6/6	OMIM:210900
641	BLM	HP:0002232	Patchy alopecia	HP:0040283	ORPHA:125
641	BLM	HP:0100751	Esophageal neoplasm	HP:0040284	ORPHA:125
641	BLM	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:125
641	BLM	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:125
641	BLM	HP:0001029	Poikiloderma	HP:0040283	ORPHA:125
641	BLM	HP:0001041	Facial erythema	1/1	OMIM:210900
641	BLM	HP:0001010	Hypopigmentation of the skin	1/1	OMIM:210900
641	BLM	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:125
641	BLM	HP:0001009	Telangiectasia	HP:0040283	ORPHA:125
641	BLM	HP:0020105	Severe toxoplasmosis	HP:0040283	ORPHA:125
641	BLM	HP:0032170	Severe varicella zoster infection	HP:0040283	ORPHA:125
641	BLM	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:210900
641	BLM	HP:0005598	Facial telangiectasia in butterfly midface distribution	-	OMIM:210900
641	BLM	HP:0005590	Spotty hypopigmentation	1/1	OMIM:210900
641	BLM	HP:0001909	Leukemia	-	OMIM:210900
641	BLM	HP:0000690	Agenesis of maxillary lateral incisor	-	OMIM:210900
641	BLM	HP:0000653	Sparse eyelashes	HP:0040283	ORPHA:125
641	BLM	HP:0004315	Decreased circulating IgG concentration	-	OMIM:210900
641	BLM	HP:0004315	Decreased circulating IgG concentration	HP:0040282	ORPHA:125
641	BLM	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:125
641	BLM	HP:0004396	Poor appetite	HP:0040282	ORPHA:125
641	BLM	HP:0100013	Neoplasm of the breast	HP:0040283	ORPHA:125
641	BLM	HP:0012743	Abdominal obesity	HP:0040283	ORPHA:125
641	BLM	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:125
641	BLM	HP:0000798	Oligozoospermia	HP:0040283	ORPHA:125
641	BLM	HP:0000855	Insulin resistance	HP:0040282	ORPHA:125
641	BLM	HP:0000868	Decreased fertility in females	-	OMIM:210900
641	BLM	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:125
641	BLM	HP:0040012	Chromosome breakage	-	OMIM:210900
641	BLM	HP:0003220	Abnormality of chromosome stability	-	OMIM:210900
641	BLM	HP:0040217	Elevated hemoglobin A1c	1/1	OMIM:210900
641	BLM	HP:0003251	Male infertility	HP:0040282	ORPHA:125
641	BLM	HP:0000998	Hypertrichosis	-	OMIM:210900
641	BLM	HP:0100273	Neoplasm of the colon	HP:0040283	ORPHA:125
641	BLM	HP:0000992	Cutaneous photosensitivity	-	OMIM:210900
641	BLM	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:125
641	BLM	HP:0000988	Skin rash	HP:0040282	ORPHA:125
641	BLM	HP:0000957	Cafe-au-lait spot	-	OMIM:210900
641	BLM	HP:0000957	Cafe-au-lait spot	HP:0040282	ORPHA:125
641	BLM	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:125
641	BLM	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:125
641	BLM	HP:0040195	Decreased head circumference	HP:0040282	ORPHA:125
641	BLM	HP:0000278	Retrognathia	HP:0040282	ORPHA:125
641	BLM	HP:0000275	Narrow face	-	OMIM:210900
641	BLM	HP:0000275	Narrow face	HP:0040282	ORPHA:125
641	BLM	HP:0000272	Malar flattening	-	OMIM:210900
641	BLM	HP:0000272	Malar flattening	HP:0040282	ORPHA:125
641	BLM	HP:0000268	Dolichocephaly	-	OMIM:210900
641	BLM	HP:0031393	Abnormal CD8+ T cell proportion	HP:0040282	ORPHA:125
641	BLM	HP:0000252	Microcephaly	-	OMIM:210900
641	BLM	HP:0002878	Respiratory failure	HP:0040284	ORPHA:125
641	BLM	HP:0002860	Squamous cell carcinoma	1/6	OMIM:210900
641	BLM	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:125
641	BLM	HP:0002850	Decreased circulating total IgM	-	OMIM:210900
641	BLM	HP:0002850	Decreased circulating total IgM	HP:0040282	ORPHA:125
641	BLM	HP:0001518	Small for gestational age	6/6	OMIM:210900
641	BLM	HP:0001518	Small for gestational age	HP:0040281	ORPHA:125
641	BLM	HP:0001511	Intrauterine growth retardation	-	OMIM:210900
641	BLM	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:125
641	BLM	HP:0001510	Growth delay	1/1	OMIM:210900
641	BLM	HP:0001510	Growth delay	HP:0040281	ORPHA:125
641	BLM	HP:0006510	Chronic pulmonary obstruction	HP:0040283	ORPHA:125
641	BLM	HP:0012387	Bronchitis	HP:0040283	ORPHA:125
641	BLM	HP:0012384	Rhinitis	HP:0040283	ORPHA:125
641	BLM	HP:0000388	Otitis media	HP:0040282	ORPHA:125
641	BLM	HP:0006528	Chronic lung disease	-	OMIM:210900
641	BLM	HP:0000347	Micrognathia	HP:0040282	ORPHA:125
641	BLM	HP:0025615	Abscess	HP:0040283	ORPHA:125
641	BLM	HP:0001620	Abnormally high-pitched voice	-	OMIM:210900
641	BLM	HP:0005353	Recurrent herpes	HP:0040283	ORPHA:125
641	BLM	HP:0000488	Retinopathy	HP:0040284	ORPHA:125
641	BLM	HP:0011110	Recurrent tonsillitis	HP:0040283	ORPHA:125
641	BLM	HP:0000448	Prominent nose	-	OMIM:210900
641	BLM	HP:0000411	Protruding ear	-	OMIM:210900
641	BLM	HP:0006721	Acute lymphoblastic leukemia	HP:0040283	ORPHA:125
641	BLM	HP:0006758	Malignant genitourinary tract tumor	HP:0040283	ORPHA:125
641	BLM	HP:0001818	Paronychia	HP:0040283	ORPHA:125
641	BLM	HP:0000554	Uveitis	HP:0040283	ORPHA:125
644	BLVRA	HP:0001396	Cholestasis	-	OMIM:614156
644	BLVRA	HP:0000007	Autosomal recessive inheritance	-	OMIM:614156
644	BLVRA	HP:0000006	Autosomal dominant inheritance	-	OMIM:614156
644	BLVRA	HP:0001410	Decreased liver function	-	OMIM:614156
644	BLVRA	HP:0003584	Late onset	1/1	OMIM:614156
644	BLVRA	HP:0032003	Green urine	1/1	OMIM:614156
644	BLVRA	HP:0001081	Cholelithiasis	-	OMIM:614156
644	BLVRA	HP:0034383	Elevated circulating biliverdin concentration	1/1	OMIM:614156
646	BNC1	HP:0001166	Arachnodactyly	HP:0040284	ORPHA:243
646	BNC1	HP:0009888	Abnormality of secondary sexual hair	HP:0040281	ORPHA:243
646	BNC1	HP:0001251	Ataxia	HP:0040284	ORPHA:243
646	BNC1	HP:0008684	Aplasia/hypoplasia of the uterus	HP:0040282	ORPHA:243
646	BNC1	HP:0000062	Ambiguous genitalia	-	ORPHA:243
646	BNC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618723
646	BNC1	HP:0000144	Decreased fertility	HP:0040281	ORPHA:243
646	BNC1	HP:0000133	Gonadal dysgenesis	HP:0040280	ORPHA:243
646	BNC1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:243
646	BNC1	HP:0010464	Streak ovary	HP:0040282	ORPHA:243
646	BNC1	HP:0008232	Elevated circulating follicle stimulating hormone level	-	OMIM:618723
646	BNC1	HP:0008209	Premature ovarian insufficiency	-	OMIM:618723
646	BNC1	HP:0008209	Premature ovarian insufficiency	HP:0040280	ORPHA:243
646	BNC1	HP:0008214	Decreased serum estradiol	-	OMIM:618723
646	BNC1	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:243
646	BNC1	HP:0002225	Sparse pubic hair	HP:0040282	ORPHA:243
646	BNC1	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:243
646	BNC1	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040283	ORPHA:243
646	BNC1	HP:0004322	Short stature	HP:0040283	ORPHA:243
646	BNC1	HP:0005625	Osteoporosis of vertebrae	HP:0040282	ORPHA:243
646	BNC1	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:243
646	BNC1	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:243
646	BNC1	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:243
646	BNC1	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:243
646	BNC1	HP:0000823	Delayed puberty	HP:0040281	ORPHA:243
646	BNC1	HP:0033085	Reduced antral follicle count	1/1	OMIM:618723
646	BNC1	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:243
646	BNC1	HP:0000938	Osteopenia	HP:0040282	ORPHA:243
646	BNC1	HP:0000252	Microcephaly	HP:0040284	ORPHA:243
646	BNC1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:243
649	BMP1	HP:0001166	Arachnodactyly	2/2	OMIM:614856
649	BMP1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
649	BMP1	HP:0001293	Cranial nerve compression	-	OMIM:131300
649	BMP1	HP:0001290	Generalized hypotonia	1/2	OMIM:614856
649	BMP1	HP:0001256	Intellectual disability, mild	-	OMIM:259770
649	BMP1	HP:0001252	Hypotonia	-	OMIM:259770
649	BMP1	HP:0001252	Hypotonia	HP:0040283	OMIM:614856
649	BMP1	HP:0001252	Hypotonia	2/7	OMIM:615777
649	BMP1	HP:0001249	Intellectual disability	0/2	OMIM:614856
649	BMP1	HP:0001249	Intellectual disability	5/7	OMIM:615777
649	BMP1	HP:0001263	Global developmental delay	1/1	OMIM:612394
649	BMP1	HP:0001263	Global developmental delay	-	OMIM:615777
649	BMP1	HP:0002515	Waddling gait	54/102	OMIM:131300
649	BMP1	HP:0003863	Angulated humerus	1/2	OMIM:614856
649	BMP1	HP:0001382	Joint hypermobility	-	OMIM:259770
649	BMP1	HP:0001382	Joint hypermobility	2/2	OMIM:614856
649	BMP1	HP:0001382	Joint hypermobility	-	OMIM:615777
649	BMP1	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
649	BMP1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
649	BMP1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
649	BMP1	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
649	BMP1	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
649	BMP1	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
649	BMP1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
649	BMP1	HP:0001324	Muscle weakness	40/96	OMIM:131300
649	BMP1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
649	BMP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
649	BMP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
649	BMP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
649	BMP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614856
649	BMP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
649	BMP1	HP:0002650	Scoliosis	1/5	OMIM:259770
649	BMP1	HP:0002650	Scoliosis	1/1	OMIM:612394
649	BMP1	HP:0002650	Scoliosis	12/14	OMIM:131300
649	BMP1	HP:0002650	Scoliosis	1/2	OMIM:614856
649	BMP1	HP:0002645	Wormian bones	2/2	OMIM:614856
649	BMP1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
649	BMP1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
649	BMP1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
649	BMP1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
649	BMP1	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
649	BMP1	HP:0000175	Cleft palate	2/7	OMIM:615777
649	BMP1	HP:0002757	Recurrent fractures	4/5	OMIM:259770
649	BMP1	HP:0002757	Recurrent fractures	3/4	OMIM:614856
649	BMP1	HP:0002756	Pathologic fracture	-	OMIM:259770
649	BMP1	HP:0002756	Pathologic fracture	1/1	OMIM:612394
649	BMP1	HP:0002751	Kyphoscoliosis	1/2	OMIM:614856
649	BMP1	HP:0002751	Kyphoscoliosis	-	OMIM:259770
649	BMP1	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
649	BMP1	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
649	BMP1	HP:0003388	Easy fatigability	36/76	OMIM:131300
649	BMP1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
649	BMP1	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
649	BMP1	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
649	BMP1	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
649	BMP1	HP:0002194	Delayed gross motor development	-	OMIM:614856
649	BMP1	HP:0002164	Nail dysplasia	1/1	OMIM:612394
649	BMP1	HP:0010557	Overlapping fingers	1/2	OMIM:612394
649	BMP1	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
649	BMP1	HP:0010501	Limitation of knee mobility	1/2	OMIM:614856
649	BMP1	HP:0003593	Infantile onset	1/5	OMIM:259770
649	BMP1	HP:0003577	Congenital onset	4/5	OMIM:259770
649	BMP1	HP:0003577	Congenital onset	2/2	OMIM:614856
649	BMP1	HP:0002230	Generalized hirsutism	1/2	OMIM:614856
649	BMP1	HP:0002208	Coarse hair	1/1	OMIM:612394
649	BMP1	HP:0010677	Enuresis nocturna	1/2	OMIM:614856
649	BMP1	HP:0003510	Severe short stature	7/7	OMIM:615777
649	BMP1	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
649	BMP1	HP:0025019	Arterial rupture	1/1	OMIM:612394
649	BMP1	HP:0002315	Headache	-	OMIM:131300
649	BMP1	HP:0004976	Knee dislocation	6/7	OMIM:615777
649	BMP1	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
649	BMP1	HP:0100625	Enlarged thorax	1/2	OMIM:614856
649	BMP1	HP:0009803	Short phalanx of finger	-	OMIM:615777
649	BMP1	HP:0001089	Iris atrophy	-	OMIM:259770
649	BMP1	HP:0009763	Limb pain	63/92	OMIM:131300
649	BMP1	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
649	BMP1	HP:0003621	Juvenile onset	-	OMIM:131300
649	BMP1	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
649	BMP1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
649	BMP1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
649	BMP1	HP:0000637	Long palpebral fissure	1/2	OMIM:614856
649	BMP1	HP:6001056	Out-toeing	-	OMIM:131300
649	BMP1	HP:0000651	Diplopia	-	OMIM:131300
649	BMP1	HP:0000618	Blindness	5/5	OMIM:259770
649	BMP1	HP:0001956	Truncal obesity	2/7	OMIM:615777
649	BMP1	HP:0001903	Anemia	HP:0040283	OMIM:131300
649	BMP1	HP:0010049	Short metacarpal	-	OMIM:615777
649	BMP1	HP:0000678	Dental crowding	-	OMIM:615777
649	BMP1	HP:0000670	Carious teeth	-	OMIM:131300
649	BMP1	HP:0011304	Broad thumb	2/7	OMIM:615777
649	BMP1	HP:0000668	Hypodontia	-	OMIM:615777
649	BMP1	HP:0000667	Phthisis bulbi	-	OMIM:259770
649	BMP1	HP:0000664	Synophrys	-	OMIM:615777
649	BMP1	HP:0004325	Decreased body weight	2/2	OMIM:614856
649	BMP1	HP:0004322	Short stature	-	OMIM:259770
649	BMP1	HP:0004322	Short stature	2/2	OMIM:614856
649	BMP1	HP:0003083	Dislocated radial head	HP:0040283	OMIM:614856
649	BMP1	HP:0004396	Poor appetite	-	OMIM:131300
649	BMP1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
649	BMP1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
649	BMP1	HP:0003016	Metaphyseal widening	-	OMIM:259770
649	BMP1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
649	BMP1	HP:0003026	Short long bone	7/7	OMIM:615777
649	BMP1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
649	BMP1	HP:0004349	Reduced bone mineral density	2/2	OMIM:614856
649	BMP1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
649	BMP1	HP:0000768	Pectus carinatum	1/2	OMIM:614856
649	BMP1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
649	BMP1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
649	BMP1	HP:0000750	Delayed speech and language development	-	OMIM:615777
649	BMP1	HP:0000703	Dentinogenesis imperfecta	0/2	OMIM:614856
649	BMP1	HP:0011461	Fetal onset	7/7	OMIM:615777
649	BMP1	HP:0011461	Fetal onset	2/2	OMIM:612394
649	BMP1	HP:0000774	Narrow chest	2/7	OMIM:615777
649	BMP1	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
649	BMP1	HP:0003196	Short nose	1/1	OMIM:612394
649	BMP1	HP:0000926	Platyspondyly	2/2	OMIM:614856
649	BMP1	HP:0000926	Platyspondyly	-	OMIM:259770
649	BMP1	HP:0000926	Platyspondyly	1/7	OMIM:615777
649	BMP1	HP:0000926	Platyspondyly	1/1	OMIM:612394
649	BMP1	HP:0003183	Wide pubic symphysis	1/2	OMIM:614856
649	BMP1	HP:0003180	Flat acetabular roof	-	OMIM:615777
649	BMP1	HP:0004482	Relative macrocephaly	-	OMIM:615777
649	BMP1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
649	BMP1	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
649	BMP1	HP:0000823	Delayed puberty	-	OMIM:131300
649	BMP1	HP:0000894	Short clavicles	-	OMIM:615777
649	BMP1	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
649	BMP1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
649	BMP1	HP:0003202	Skeletal muscle atrophy	1/2	OMIM:614856
649	BMP1	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
649	BMP1	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
649	BMP1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
649	BMP1	HP:0000939	Osteoporosis	2/2	OMIM:614856
649	BMP1	HP:0000939	Osteoporosis	4/5	OMIM:259770
649	BMP1	HP:0000938	Osteopenia	1/5	OMIM:259770
649	BMP1	HP:0000938	Osteopenia	1/1	OMIM:612394
649	BMP1	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
649	BMP1	HP:0000286	Epicanthus	1/7	OMIM:615777
649	BMP1	HP:0000280	Coarse facial features	2/7	OMIM:615777
649	BMP1	HP:0000272	Malar flattening	1/1	OMIM:612394
649	BMP1	HP:0007773	Vitreoretinopathy	-	OMIM:259770
649	BMP1	HP:0002827	Hip dislocation	3/7	OMIM:615777
649	BMP1	HP:0002808	Kyphosis	1/5	OMIM:259770
649	BMP1	HP:0006387	Wide distal femoral metaphysis	1/2	OMIM:614856
649	BMP1	HP:0000252	Microcephaly	-	OMIM:259770
649	BMP1	HP:0000252	Microcephaly	-	OMIM:615777
649	BMP1	HP:0001552	Barrel-shaped chest	-	OMIM:259770
649	BMP1	HP:0000233	Thin vermilion border	1/2	OMIM:614856
649	BMP1	HP:0002857	Genu valgum	-	OMIM:131300
649	BMP1	HP:0001537	Umbilical hernia	4/4	OMIM:614856
649	BMP1	HP:0001533	Slender build	-	OMIM:131300
649	BMP1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
649	BMP1	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
649	BMP1	HP:0007807	Optic nerve compression	-	OMIM:131300
649	BMP1	HP:0012368	Flat face	7/7	OMIM:615777
649	BMP1	HP:0012368	Flat face	1/1	OMIM:612394
649	BMP1	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
649	BMP1	HP:0007875	Congenital blindness	4/5	OMIM:259770
649	BMP1	HP:0007862	Retinal calcification	1/5	OMIM:259770
649	BMP1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
649	BMP1	HP:0000365	Hearing impairment	10/67	OMIM:131300
649	BMP1	HP:0000365	Hearing impairment	0/2	OMIM:614856
649	BMP1	HP:0000369	Low-set ears	2/2	OMIM:612394
649	BMP1	HP:0000343	Long philtrum	1/2	OMIM:614856
649	BMP1	HP:0000343	Long philtrum	1/7	OMIM:615777
649	BMP1	HP:0011001	Increased bone mineral density	-	OMIM:131300
649	BMP1	HP:0011001	Increased bone mineral density	HP:0040283	OMIM:614856
649	BMP1	HP:0000337	Broad forehead	1/2	OMIM:614856
649	BMP1	HP:0002982	Tibial bowing	1/5	OMIM:259770
649	BMP1	HP:0002980	Femoral bowing	2/2	OMIM:614856
649	BMP1	HP:0000311	Round face	2/7	OMIM:615777
649	BMP1	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
649	BMP1	HP:0000325	Triangular face	1/2	OMIM:614856
649	BMP1	HP:0001629	Ventricular septal defect	-	OMIM:259770
649	BMP1	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
649	BMP1	HP:0002970	Genu varum	-	OMIM:615777
649	BMP1	HP:0000307	Pointed chin	1/2	OMIM:612394
649	BMP1	HP:0000303	Mandibular prognathia	-	OMIM:131300
649	BMP1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
649	BMP1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
649	BMP1	HP:0000463	Anteverted nares	1/1	OMIM:612394
649	BMP1	HP:0000470	Short neck	1/7	OMIM:615777
649	BMP1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
649	BMP1	HP:0001763	Pes planus	1/7	OMIM:615777
649	BMP1	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
649	BMP1	HP:0000411	Protruding ear	1/2	OMIM:614856
649	BMP1	HP:0000518	Cataract	1/5	OMIM:259770
649	BMP1	HP:0000518	Cataract	1/1	OMIM:612394
649	BMP1	HP:0001840	Metatarsus adductus	-	OMIM:615777
649	BMP1	HP:0000527	Long eyelashes	1/2	OMIM:614856
649	BMP1	HP:0000520	Proptosis	2/4	OMIM:131300
649	BMP1	HP:0000520	Proptosis	7/7	OMIM:615777
649	BMP1	HP:0000592	Blue sclerae	2/7	OMIM:615777
649	BMP1	HP:0000592	Blue sclerae	1/2	OMIM:614856
649	BMP1	HP:0000586	Shallow orbits	1/1	OMIM:612394
649	BMP1	HP:0000568	Microphthalmia	1/5	OMIM:259770
649	BMP1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
649	BMP1	HP:0012514	Lower limb pain	4/4	OMIM:131300
649	BMP1	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
649	BMP1	HP:0000545	Myopia	1/1	OMIM:612394
650	BMP2	HP:0008551	Microtia	HP:0040283	ORPHA:261295
650	BMP2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
650	BMP2	HP:0001293	Cranial nerve compression	-	OMIM:131300
650	BMP2	HP:0001250	Seizure	HP:0040283	ORPHA:261295
650	BMP2	HP:0001252	Hypotonia	3/11	OMIM:617877
650	BMP2	HP:0001252	Hypotonia	HP:0040283	ORPHA:261295
650	BMP2	HP:0001252	Hypotonia	2/7	OMIM:615777
650	BMP2	HP:0001249	Intellectual disability	0/11	OMIM:617877
650	BMP2	HP:0001249	Intellectual disability	5/7	OMIM:615777
650	BMP2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:261295
650	BMP2	HP:0001263	Global developmental delay	-	OMIM:615777
650	BMP2	HP:0002515	Waddling gait	54/102	OMIM:131300
650	BMP2	HP:0001394	Cirrhosis	-	OMIM:235200
650	BMP2	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:235200
650	BMP2	HP:0001382	Joint hypermobility	-	OMIM:615777
650	BMP2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
650	BMP2	HP:0000029	Testicular atrophy	-	OMIM:235200
650	BMP2	HP:0000027	Azoospermia	-	OMIM:235200
650	BMP2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
650	BMP2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
650	BMP2	HP:0001324	Muscle weakness	40/96	OMIM:131300
650	BMP2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
650	BMP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
650	BMP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:235200
650	BMP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:112600
650	BMP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617877
650	BMP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
650	BMP2	HP:0002650	Scoliosis	12/14	OMIM:131300
650	BMP2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
650	BMP2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
650	BMP2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
650	BMP2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
650	BMP2	HP:0000160	Narrow mouth	HP:0040282	ORPHA:261295
650	BMP2	HP:0000175	Cleft palate	2/7	OMIM:615777
650	BMP2	HP:0000141	Amenorrhea	-	OMIM:235200
650	BMP2	HP:0008947	Floppy infant	HP:0040284	OMIM:617877
650	BMP2	HP:0001402	Hepatocellular carcinoma	-	OMIM:235200
650	BMP2	HP:0002750	Delayed skeletal maturation	-	OMIM:617877
650	BMP2	HP:0004691	2-3 toe syndactyly	-	OMIM:112600
650	BMP2	HP:0002027	Abdominal pain	-	OMIM:235200
650	BMP2	HP:0003302	Spondylolisthesis	3/9	OMIM:617877
650	BMP2	HP:0011800	Midface retrusion	11/12	OMIM:617877
650	BMP2	HP:0003388	Easy fatigability	36/76	OMIM:131300
650	BMP2	HP:0009464	Ulnar deviation of the 2nd finger	-	OMIM:112600
650	BMP2	HP:0009467	Radial deviation of the 2nd finger	-	OMIM:112600
650	BMP2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
650	BMP2	HP:0003452	Increased circulating iron concentration	-	OMIM:235200
650	BMP2	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:261295
650	BMP2	HP:0004763	Paroxysmal supraventricular tachycardia	-	OMIM:617877
650	BMP2	HP:0009575	Triangular shaped middle phalanx of the 2nd finger	-	OMIM:112600
650	BMP2	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	-	OMIM:112600
650	BMP2	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	HP:0040283	ORPHA:93396
650	BMP2	HP:0009536	Short 2nd finger	-	OMIM:112600
650	BMP2	HP:0002240	Hepatomegaly	-	OMIM:235200
650	BMP2	HP:0002202	Pleural effusion	-	OMIM:235200
650	BMP2	HP:0100797	Toenail dysplasia	3/11	OMIM:617877
650	BMP2	HP:0003510	Severe short stature	7/7	OMIM:615777
650	BMP2	HP:0001009	Telangiectasia	-	OMIM:235200
650	BMP2	HP:0002315	Headache	-	OMIM:131300
650	BMP2	HP:0004976	Knee dislocation	6/7	OMIM:615777
650	BMP2	HP:0009803	Short phalanx of finger	-	OMIM:615777
650	BMP2	HP:0009763	Limb pain	63/92	OMIM:131300
650	BMP2	HP:0003621	Juvenile onset	-	OMIM:131300
650	BMP2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
650	BMP2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:112600
650	BMP2	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:93396
650	BMP2	HP:0004209	Clinodactyly of the 5th finger	4/11	OMIM:617877
650	BMP2	HP:0010059	Broad hallux phalanx	HP:0040283	ORPHA:261295
650	BMP2	HP:0004220	Short middle phalanx of the 5th finger	-	OMIM:112600
650	BMP2	HP:0004220	Short middle phalanx of the 5th finger	HP:0040283	ORPHA:93396
650	BMP2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
650	BMP2	HP:6001056	Out-toeing	-	OMIM:131300
650	BMP2	HP:0000651	Diplopia	-	OMIM:131300
650	BMP2	HP:0001956	Truncal obesity	2/7	OMIM:615777
650	BMP2	HP:0001952	Glucose intolerance	-	OMIM:235200
650	BMP2	HP:0001903	Anemia	HP:0040283	OMIM:131300
650	BMP2	HP:0010049	Short metacarpal	-	OMIM:615777
650	BMP2	HP:0010047	Short 5th metacarpal	-	OMIM:617877
650	BMP2	HP:0010055	Broad hallux	-	OMIM:112600
650	BMP2	HP:0010038	Short 2nd metacarpal	HP:0040283	ORPHA:93396
650	BMP2	HP:0000678	Dental crowding	-	OMIM:615777
650	BMP2	HP:0000678	Dental crowding	6/10	OMIM:617877
650	BMP2	HP:0000670	Carious teeth	-	OMIM:131300
650	BMP2	HP:0011304	Broad thumb	HP:0040283	ORPHA:261295
650	BMP2	HP:0011304	Broad thumb	2/7	OMIM:615777
650	BMP2	HP:0000668	Hypodontia	-	OMIM:615777
650	BMP2	HP:0000664	Synophrys	-	OMIM:615777
650	BMP2	HP:0000664	Synophrys	5/9	OMIM:617877
650	BMP2	HP:0004322	Short stature	8/11	OMIM:617877
650	BMP2	HP:0004322	Short stature	HP:0040282	ORPHA:261295
650	BMP2	HP:0000802	Impotence	-	OMIM:235200
650	BMP2	HP:0004396	Poor appetite	-	OMIM:131300
650	BMP2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
650	BMP2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
650	BMP2	HP:0003040	Arthropathy	-	OMIM:235200
650	BMP2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
650	BMP2	HP:0003026	Short long bone	7/7	OMIM:615777
650	BMP2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
650	BMP2	HP:0009102	Anterior open-bite malocclusion	5/10	OMIM:617877
650	BMP2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
650	BMP2	HP:0000767	Pectus excavatum	-	OMIM:617877
650	BMP2	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:261295
650	BMP2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
650	BMP2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
650	BMP2	HP:0000750	Delayed speech and language development	-	OMIM:615777
650	BMP2	HP:0009182	Triangular shaped middle phalanx of the 5th finger	-	OMIM:112600
650	BMP2	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	-	OMIM:112600
650	BMP2	HP:0011461	Fetal onset	7/7	OMIM:615777
650	BMP2	HP:0010109	Short hallux	-	OMIM:112600
650	BMP2	HP:0000774	Narrow chest	2/7	OMIM:615777
650	BMP2	HP:0003196	Short nose	12/12	OMIM:617877
650	BMP2	HP:0000926	Platyspondyly	1/7	OMIM:615777
650	BMP2	HP:0003180	Flat acetabular roof	-	OMIM:615777
650	BMP2	HP:0004482	Relative macrocephaly	-	OMIM:615777
650	BMP2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
650	BMP2	HP:0000878	11 pairs of ribs	6/9	OMIM:617877
650	BMP2	HP:0000884	Prominent sternum	-	OMIM:617877
650	BMP2	HP:0000819	Diabetes mellitus	-	OMIM:235200
650	BMP2	HP:0000823	Delayed puberty	-	OMIM:131300
650	BMP2	HP:0000894	Short clavicles	-	OMIM:615777
650	BMP2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
650	BMP2	HP:0003298	Spina bifida occulta	-	OMIM:617877
650	BMP2	HP:0003281	Increased circulating ferritin concentration	-	OMIM:235200
650	BMP2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
650	BMP2	HP:0000953	Hyperpigmentation of the skin	-	OMIM:235200
650	BMP2	HP:0000939	Osteoporosis	-	OMIM:235200
650	BMP2	HP:0000938	Osteopenia	1/6	OMIM:617877
650	BMP2	HP:0008096	Medially deviated second toe	-	OMIM:112600
650	BMP2	HP:0005819	Short middle phalanx of finger	HP:0040283	ORPHA:93396
650	BMP2	HP:0009372	Type A2 brachydactyly	HP:0040281	ORPHA:93396
650	BMP2	HP:0011675	Arrhythmia	-	OMIM:235200
650	BMP2	HP:0011675	Arrhythmia	3/9	OMIM:617877
650	BMP2	HP:0011682	Perimembranous ventricular septal defect	-	OMIM:617877
650	BMP2	HP:0000286	Epicanthus	HP:0040282	ORPHA:261295
650	BMP2	HP:0000286	Epicanthus	1/7	OMIM:615777
650	BMP2	HP:0000280	Coarse facial features	2/7	OMIM:615777
650	BMP2	HP:0000293	Full cheeks	HP:0040283	ORPHA:261295
650	BMP2	HP:0001596	Alopecia	-	OMIM:235200
650	BMP2	HP:0000256	Macrocephaly	HP:0040282	ORPHA:261295
650	BMP2	HP:0000272	Malar flattening	HP:0040282	ORPHA:261295
650	BMP2	HP:0002827	Hip dislocation	3/7	OMIM:615777
650	BMP2	HP:0000252	Microcephaly	-	OMIM:615777
650	BMP2	HP:0000219	Thin upper lip vermilion	10/12	OMIM:617877
650	BMP2	HP:0000218	High palate	-	OMIM:617877
650	BMP2	HP:0000232	Everted lower lip vermilion	2/7	OMIM:617877
650	BMP2	HP:0002857	Genu valgum	-	OMIM:131300
650	BMP2	HP:0002870	Obstructive sleep apnea	4/11	OMIM:617877
650	BMP2	HP:0001541	Ascites	-	OMIM:235200
650	BMP2	HP:0001533	Slender build	-	OMIM:131300
650	BMP2	HP:0000201	Pierre-Robin sequence	3/11	OMIM:617877
650	BMP2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
650	BMP2	HP:0007807	Optic nerve compression	-	OMIM:131300
650	BMP2	HP:0012368	Flat face	7/7	OMIM:615777
650	BMP2	HP:0000391	Thickened helices	HP:0040283	ORPHA:261295
650	BMP2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
650	BMP2	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:235200
650	BMP2	HP:0000365	Hearing impairment	10/67	OMIM:131300
650	BMP2	HP:0000358	Posteriorly rotated ears	7/12	OMIM:617877
650	BMP2	HP:0000369	Low-set ears	7/12	OMIM:617877
650	BMP2	HP:0000341	Narrow forehead	-	OMIM:617877
650	BMP2	HP:0000343	Long philtrum	HP:0040283	ORPHA:261295
650	BMP2	HP:0000343	Long philtrum	1/7	OMIM:615777
650	BMP2	HP:0000343	Long philtrum	12/12	OMIM:617877
650	BMP2	HP:0011001	Increased bone mineral density	-	OMIM:131300
650	BMP2	HP:0001669	Transposition of the great arteries	-	OMIM:617877
650	BMP2	HP:0000337	Broad forehead	8/12	OMIM:617877
650	BMP2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:261295
650	BMP2	HP:0000311	Round face	2/7	OMIM:615777
650	BMP2	HP:0001642	Pulmonic stenosis	-	OMIM:617877
650	BMP2	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:261295
650	BMP2	HP:0001640	Cardiomegaly	-	OMIM:235200
650	BMP2	HP:0002970	Genu varum	-	OMIM:615777
650	BMP2	HP:0001635	Congestive heart failure	-	OMIM:235200
650	BMP2	HP:0001638	Cardiomyopathy	-	OMIM:235200
650	BMP2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:261295
650	BMP2	HP:0000303	Mandibular prognathia	-	OMIM:131300
650	BMP2	HP:0000405	Conductive hearing impairment	4/11	OMIM:617877
650	BMP2	HP:0001716	Wolff-Parkinson-White syndrome	HP:0040282	ORPHA:261295
650	BMP2	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:261295
650	BMP2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
650	BMP2	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:261295
650	BMP2	HP:0000494	Downslanted palpebral fissures	3/12	OMIM:617877
650	BMP2	HP:0000463	Anteverted nares	12/12	OMIM:617877
650	BMP2	HP:0000470	Short neck	1/7	OMIM:615777
650	BMP2	HP:0001773	Short foot	HP:0040282	ORPHA:93396
650	BMP2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
650	BMP2	HP:0001763	Pes planus	1/7	OMIM:615777
650	BMP2	HP:0001744	Splenomegaly	-	OMIM:235200
650	BMP2	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:261295
650	BMP2	HP:0001840	Metatarsus adductus	-	OMIM:615777
650	BMP2	HP:0001852	Sandal gap	8/11	OMIM:617877
650	BMP2	HP:0000520	Proptosis	2/4	OMIM:131300
650	BMP2	HP:0000520	Proptosis	7/7	OMIM:615777
650	BMP2	HP:0001822	Hallux valgus	-	OMIM:112600
650	BMP2	HP:0001831	Short toe	-	OMIM:617877
650	BMP2	HP:0000592	Blue sclerae	2/7	OMIM:615777
650	BMP2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
650	BMP2	HP:0012514	Lower limb pain	4/4	OMIM:131300
652	BMP4	HP:0001155	Abnormality of the hand	-	OMIM:607932
652	BMP4	HP:0001156	Brachydactyly	-	OMIM:607932
652	BMP4	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:828
652	BMP4	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
652	BMP4	HP:0001144	Orbital cyst	-	OMIM:607932
652	BMP4	HP:0001123	Visual field defect	-	OMIM:143200
652	BMP4	HP:0009909	Uplifted earlobe	-	OMIM:607932
652	BMP4	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:139471
652	BMP4	HP:0001270	Motor delay	-	OMIM:156550
652	BMP4	HP:0001288	Gait disturbance	-	OMIM:156550
652	BMP4	HP:0001250	Seizure	HP:0040283	ORPHA:139471
652	BMP4	HP:0001252	Hypotonia	HP:0040282	ORPHA:828
652	BMP4	HP:0001252	Hypotonia	-	OMIM:607932
652	BMP4	HP:0001263	Global developmental delay	20/20	OMIM:607932
652	BMP4	HP:0001263	Global developmental delay	HP:0040282	ORPHA:139471
652	BMP4	HP:0006101	Finger syndactyly	-	OMIM:607932
652	BMP4	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:139471
652	BMP4	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	-	OMIM:607932
652	BMP4	HP:0010999	Aplasia of the optic tract	-	OMIM:607932
652	BMP4	HP:0010982	Polygenic inheritance	-	OMIM:600625
652	BMP4	HP:0006095	Wide tufts of distal phalanges	-	OMIM:154780
652	BMP4	HP:0000089	Renal hypoplasia	-	OMIM:607932
652	BMP4	HP:0000046	Small scrotum	-	OMIM:607932
652	BMP4	HP:0001376	Limitation of joint mobility	-	OMIM:156550
652	BMP4	HP:0001373	Joint dislocation	HP:0040282	ORPHA:828
652	BMP4	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:828
652	BMP4	HP:0012019	Lens luxation	-	OMIM:154780
652	BMP4	HP:0000023	Inguinal hernia	-	OMIM:156550
652	BMP4	HP:0002684	Thickened calvaria	-	OMIM:154780
652	BMP4	HP:0001357	Plagiocephaly	-	OMIM:607932
652	BMP4	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:139471
652	BMP4	HP:0000028	Cryptorchidism	-	OMIM:607932
652	BMP4	HP:0002688	Absent frontal sinuses	-	OMIM:154780
652	BMP4	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:828
652	BMP4	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199306
652	BMP4	HP:0008839	Hypoplastic pelvis	-	OMIM:156550
652	BMP4	HP:0031153	Membranous vitreous appearance	HP:0040282	ORPHA:828
652	BMP4	HP:0031154	Beaded vitreous appearance	HP:0040283	ORPHA:828
652	BMP4	HP:0006172	Flattened, squared-off epiphyses of tubular bones	-	OMIM:156550
652	BMP4	HP:0002663	Delayed epiphyseal ossification	-	OMIM:156550
652	BMP4	HP:0002656	Epiphyseal dysplasia	-	OMIM:184840
652	BMP4	HP:0001344	Absent speech	-	OMIM:607932
652	BMP4	HP:0002673	Coxa valga	-	OMIM:154780
652	BMP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
652	BMP4	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
652	BMP4	HP:0000006	Autosomal dominant inheritance	-	OMIM:154780
652	BMP4	HP:0000006	Autosomal dominant inheritance	-	OMIM:607932
652	BMP4	HP:0000006	Autosomal dominant inheritance	-	OMIM:156550
652	BMP4	HP:0000006	Autosomal dominant inheritance	-	OMIM:143200
652	BMP4	HP:0000006	Autosomal dominant inheritance	-	OMIM:184840
652	BMP4	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:828
652	BMP4	HP:0002653	Bone pain	HP:0040282	ORPHA:828
652	BMP4	HP:0002650	Scoliosis	HP:0040282	ORPHA:828
652	BMP4	HP:0001321	Cerebellar hypoplasia	-	OMIM:607932
652	BMP4	HP:0008905	Rhizomelia	1/1	OMIM:156550
652	BMP4	HP:0000179	Thick lower lip vermilion	-	OMIM:154780
652	BMP4	HP:0000193	Bifid uvula	HP:0040282	ORPHA:828
652	BMP4	HP:0000193	Bifid uvula	4/9	OMIM:154780
652	BMP4	HP:0000193	Bifid uvula	-	OMIM:607932
652	BMP4	HP:0000162	Glossoptosis	HP:0040282	ORPHA:828
652	BMP4	HP:0000158	Macroglossia	HP:0040282	ORPHA:828
652	BMP4	HP:0000175	Cleft palate	HP:0040282	ORPHA:199306
652	BMP4	HP:0000175	Cleft palate	-	OMIM:184840
652	BMP4	HP:0000175	Cleft palate	-	OMIM:607932
652	BMP4	HP:0000175	Cleft palate	1/1	OMIM:156550
652	BMP4	HP:0000175	Cleft palate	HP:0040282	ORPHA:828
652	BMP4	HP:0000175	Cleft palate	4/9	OMIM:154780
652	BMP4	HP:0000175	Cleft palate	-	OMIM:600625
652	BMP4	HP:0000171	Microglossia	-	OMIM:607932
652	BMP4	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
652	BMP4	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:199306
652	BMP4	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
652	BMP4	HP:0410030	Cleft lip	-	OMIM:600625
652	BMP4	HP:0007643	Peripheral tractional retinal detachment	-	OMIM:143200
652	BMP4	HP:0006292	Abnormality of dental eruption	HP:0040281	ORPHA:199306
652	BMP4	HP:0006288	Advanced eruption of teeth	HP:0040283	ORPHA:828
652	BMP4	HP:0002779	Tracheomalacia	-	OMIM:156550
652	BMP4	HP:0000134	Female hypogonadism	-	OMIM:607932
652	BMP4	HP:0002758	Osteoarthritis	HP:0040282	ORPHA:828
652	BMP4	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:828
652	BMP4	HP:0002033	Poor suck	HP:0040282	ORPHA:199306
652	BMP4	HP:0002011	Morphological central nervous system abnormality	-	OMIM:607932
652	BMP4	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:828
652	BMP4	HP:0004619	Lumbar kyphoscoliosis	-	OMIM:156550
652	BMP4	HP:0003302	Spondylolisthesis	HP:0040282	ORPHA:828
652	BMP4	HP:0011800	Midface retrusion	-	OMIM:184840
652	BMP4	HP:0011800	Midface retrusion	-	OMIM:607932
652	BMP4	HP:0011800	Midface retrusion	-	OMIM:156550
652	BMP4	HP:0011800	Midface retrusion	HP:0040281	ORPHA:828
652	BMP4	HP:0011800	Midface retrusion	9/9	OMIM:154780
652	BMP4	HP:0002098	Respiratory distress	-	OMIM:156550
652	BMP4	HP:0010442	Polydactyly	-	OMIM:607932
652	BMP4	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:828
652	BMP4	HP:0002120	Cerebral cortical atrophy	-	OMIM:607932
652	BMP4	HP:0002119	Ventriculomegaly	-	OMIM:607932
652	BMP4	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:156550
652	BMP4	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:828
652	BMP4	HP:0009623	Proximal placement of thumb	HP:0040283	ORPHA:139471
652	BMP4	HP:0009600	Thumb contracture	-	OMIM:607932
652	BMP4	HP:0002188	Delayed CNS myelination	-	OMIM:607932
652	BMP4	HP:0002164	Nail dysplasia	HP:0040283	ORPHA:139471
652	BMP4	HP:0010538	Small sella turcica	-	OMIM:607932
652	BMP4	HP:0008271	Abnormal cartilage collagen	-	OMIM:156550
652	BMP4	HP:0010580	Enlarged epiphyses	-	OMIM:184840
652	BMP4	HP:0003577	Congenital onset	1/1	OMIM:156550
652	BMP4	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:828
652	BMP4	HP:0200153	Agenesis of lateral incisor	HP:0040283	ORPHA:199306
652	BMP4	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:199306
652	BMP4	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:156550
652	BMP4	HP:0007068	Inferior cerebellar vermis hypoplasia	-	OMIM:607932
652	BMP4	HP:0007068	Inferior cerebellar vermis hypoplasia	HP:0040283	ORPHA:139471
652	BMP4	HP:0200003	Splayed epiphyses	-	OMIM:156550
652	BMP4	HP:0010807	Open bite	HP:0040283	ORPHA:828
652	BMP4	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:828
652	BMP4	HP:0001083	Ectopia lentis	HP:0040283	ORPHA:828
652	BMP4	HP:0003621	Juvenile onset	8/19	OMIM:180100
652	BMP4	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:607932
652	BMP4	HP:0004209	Clinodactyly of the 5th finger	2/9	OMIM:154780
652	BMP4	HP:0006829	Severe muscular hypotonia	-	OMIM:607932
652	BMP4	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:199306
652	BMP4	HP:0000639	Nystagmus	HP:0040283	ORPHA:139471
652	BMP4	HP:0000639	Nystagmus	-	OMIM:607932
652	BMP4	HP:0000648	Optic atrophy	-	OMIM:143200
652	BMP4	HP:0000647	Sclerocornea	HP:0040283	ORPHA:139471
652	BMP4	HP:0000647	Sclerocornea	-	OMIM:607932
652	BMP4	HP:0000618	Blindness	HP:0040283	ORPHA:828
652	BMP4	HP:0000618	Blindness	-	OMIM:607932
652	BMP4	HP:0000612	Iris coloboma	HP:0040282	ORPHA:139471
652	BMP4	HP:0030490	Exudative vitreoretinopathy	HP:0040283	OMIM:143200
652	BMP4	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:828
652	BMP4	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:154780
652	BMP4	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:199306
652	BMP4	HP:0000662	Nyctalopia	26/28	OMIM:180100
652	BMP4	HP:0004322	Short stature	HP:0040283	ORPHA:828
652	BMP4	HP:0004322	Short stature	-	OMIM:154780
652	BMP4	HP:0004327	Abnormal vitreous humor morphology	HP:0040281	ORPHA:828
652	BMP4	HP:0004326	Cachexia	HP:0040283	ORPHA:828
652	BMP4	HP:0030663	Optically empty vitreous	-	OMIM:143200
652	BMP4	HP:0003088	Premature osteoarthritis	-	OMIM:184840
652	BMP4	HP:0004395	Malnutrition	HP:0040283	ORPHA:199306
652	BMP4	HP:0003037	Enlarged joints	-	OMIM:156550
652	BMP4	HP:0003031	Ulnar bowing	-	OMIM:154780
652	BMP4	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:828
652	BMP4	HP:0003015	Flared metaphysis	-	OMIM:156550
652	BMP4	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:828
652	BMP4	HP:0000767	Pectus excavatum	1/1	OMIM:156550
652	BMP4	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:828
652	BMP4	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:199306
652	BMP4	HP:0011463	Childhood onset	3/19	OMIM:180100
652	BMP4	HP:0011462	Young adult onset	8/19	OMIM:180100
652	BMP4	HP:0004443	Lambdoidal craniosynostosis	-	OMIM:607932
652	BMP4	HP:0003196	Short nose	HP:0040281	ORPHA:828
652	BMP4	HP:0003196	Short nose	9/9	OMIM:154780
652	BMP4	HP:0000926	Platyspondyly	HP:0040282	ORPHA:828
652	BMP4	HP:0000926	Platyspondyly	1/9	OMIM:154780
652	BMP4	HP:0000926	Platyspondyly	-	OMIM:184840
652	BMP4	HP:0000926	Platyspondyly	1/1	OMIM:156550
652	BMP4	HP:0003179	Protrusio acetabuli	HP:0040283	ORPHA:828
652	BMP4	HP:0011530	Retinal hole	HP:0040282	ORPHA:828
652	BMP4	HP:0000864	Abnormality of the hypothalamus-pituitary axis	-	OMIM:607932
652	BMP4	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:139471
652	BMP4	HP:0000835	Adrenal hypoplasia	-	OMIM:607932
652	BMP4	HP:0000830	Anterior hypopituitarism	-	OMIM:607932
652	BMP4	HP:0100337	Bilateral cleft palate	HP:0040283	ORPHA:199306
652	BMP4	HP:0100334	Unilateral cleft palate	HP:0040282	ORPHA:199306
652	BMP4	HP:0000821	Hypothyroidism	-	OMIM:607932
652	BMP4	HP:0010294	Palate fistula	HP:0040283	ORPHA:199306
652	BMP4	HP:0010290	Short hard palate	HP:0040283	ORPHA:828
652	BMP4	HP:0040025	Clinodactyly of the 4th finger	2/9	OMIM:154780
652	BMP4	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:828
652	BMP4	HP:0003273	Hip contracture	-	OMIM:156550
652	BMP4	HP:0100250	Meningeal calcification	-	OMIM:154780
652	BMP4	HP:0000954	Single transverse palmar crease	-	OMIM:607932
652	BMP4	HP:0000947	Dumbbell-shaped long bone	-	OMIM:156550
652	BMP4	HP:0000946	Hypoplastic ilia	-	OMIM:154780
652	BMP4	HP:0000940	Abnormal diaphysis morphology	HP:0040283	ORPHA:828
652	BMP4	HP:0005819	Short middle phalanx of finger	1/11	OMIM:607932
652	BMP4	HP:0011675	Arrhythmia	HP:0040282	ORPHA:828
652	BMP4	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:143200
652	BMP4	HP:0012283	Small distal femoral epiphysis	-	OMIM:154780
652	BMP4	HP:0012284	Small proximal tibial epiphyses	-	OMIM:154780
652	BMP4	HP:0000286	Epicanthus	HP:0040281	ORPHA:828
652	BMP4	HP:0000286	Epicanthus	-	OMIM:154780
652	BMP4	HP:0000278	Retrognathia	-	OMIM:607932
652	BMP4	HP:0000272	Malar flattening	HP:0040281	ORPHA:828
652	BMP4	HP:0000272	Malar flattening	-	OMIM:154780
652	BMP4	HP:0000272	Malar flattening	27/28	OMIM:184840
652	BMP4	HP:0000272	Malar flattening	1/1	OMIM:156550
652	BMP4	HP:0006461	Proximal femoral epiphysiolysis	HP:0040282	ORPHA:828
652	BMP4	HP:0006456	Irregular proximal tibial epiphyses	-	OMIM:154780
652	BMP4	HP:0007773	Vitreoretinopathy	-	OMIM:154780
652	BMP4	HP:0007773	Vitreoretinopathy	-	OMIM:143200
652	BMP4	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
652	BMP4	HP:0006407	Irregular distal femoral epiphysis	-	OMIM:154780
652	BMP4	HP:0002812	Coxa vara	-	OMIM:156550
652	BMP4	HP:0002829	Arthralgia	HP:0040281	ORPHA:828
652	BMP4	HP:0002829	Arthralgia	20/20	OMIM:184840
652	BMP4	HP:0002827	Hip dislocation	HP:0040283	ORPHA:828
652	BMP4	HP:0002827	Hip dislocation	-	OMIM:156550
652	BMP4	HP:0005086	Knee osteoarthritis	-	OMIM:154780
652	BMP4	HP:0002808	Kyphosis	HP:0040282	ORPHA:828
652	BMP4	HP:0006375	Dumbbell-shaped femur	1/1	OMIM:156550
652	BMP4	HP:0006361	Irregular femoral epiphysis	-	OMIM:154780
652	BMP4	HP:0000252	Microcephaly	-	OMIM:607932
652	BMP4	HP:0000252	Microcephaly	HP:0040283	ORPHA:139471
652	BMP4	HP:0000248	Brachycephaly	-	OMIM:607932
652	BMP4	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:199306
652	BMP4	HP:0000218	High palate	HP:0040283	ORPHA:139471
652	BMP4	HP:0000218	High palate	-	OMIM:607932
652	BMP4	HP:0000215	Thick upper lip vermilion	-	OMIM:154780
652	BMP4	HP:0002857	Genu valgum	HP:0040282	ORPHA:828
652	BMP4	HP:0001537	Umbilical hernia	-	OMIM:156550
652	BMP4	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:199306
652	BMP4	HP:0001533	Slender build	HP:0040283	ORPHA:828
652	BMP4	HP:0000201	Pierre-Robin sequence	4/9	OMIM:154780
652	BMP4	HP:0000201	Pierre-Robin sequence	-	OMIM:184840
652	BMP4	HP:0000204	Cleft upper lip	HP:0040282	ORPHA:828
652	BMP4	HP:0001508	Failure to thrive	-	OMIM:607932
652	BMP4	HP:0001519	Disproportionate tall stature	HP:0040282	ORPHA:828
652	BMP4	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
652	BMP4	HP:0011044	Abnormal number of permanent teeth	HP:0040283	ORPHA:199306
652	BMP4	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:828
652	BMP4	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:199306
652	BMP4	HP:0000365	Hearing impairment	HP:0040282	ORPHA:828
652	BMP4	HP:0000365	Hearing impairment	-	OMIM:607932
652	BMP4	HP:0000358	Posteriorly rotated ears	-	OMIM:607932
652	BMP4	HP:0011003	High myopia	HP:0040282	ORPHA:828
652	BMP4	HP:0000369	Low-set ears	-	OMIM:154780
652	BMP4	HP:0000369	Low-set ears	-	OMIM:607932
652	BMP4	HP:0000343	Long philtrum	HP:0040281	ORPHA:828
652	BMP4	HP:0000343	Long philtrum	-	OMIM:154780
652	BMP4	HP:0000348	High forehead	-	OMIM:607932
652	BMP4	HP:0000347	Micrognathia	HP:0040282	ORPHA:828
652	BMP4	HP:0000347	Micrognathia	-	OMIM:154780
652	BMP4	HP:0000347	Micrognathia	-	OMIM:607932
652	BMP4	HP:0002982	Tibial bowing	1/1	OMIM:156550
652	BMP4	HP:0000316	Hypertelorism	HP:0040283	ORPHA:828
652	BMP4	HP:0000316	Hypertelorism	-	OMIM:154780
652	BMP4	HP:0000311	Round face	-	OMIM:156550
652	BMP4	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:828
652	BMP4	HP:0000327	Hypoplasia of the maxilla	HP:0040284	ORPHA:199306
652	BMP4	HP:0002986	Radial bowing	-	OMIM:154780
652	BMP4	HP:0000324	Facial asymmetry	-	OMIM:607932
652	BMP4	HP:0002970	Genu varum	1/1	OMIM:156550
652	BMP4	HP:0000308	Microretrognathia	HP:0040281	ORPHA:828
652	BMP4	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:828
652	BMP4	HP:0007992	Lattice retinal degeneration	HP:0040282	ORPHA:828
652	BMP4	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:828
652	BMP4	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:154780
652	BMP4	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:139471
652	BMP4	HP:0000407	Sensorineural hearing impairment	16/28	OMIM:184840
652	BMP4	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:199306
652	BMP4	HP:0000403	Recurrent otitis media	4/9	OMIM:154780
652	BMP4	HP:0000403	Recurrent otitis media	-	OMIM:156550
652	BMP4	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:199306
652	BMP4	HP:0000405	Conductive hearing impairment	-	OMIM:156550
652	BMP4	HP:0000400	Macrotia	-	OMIM:607932
652	BMP4	HP:0005280	Depressed nasal bridge	27/28	OMIM:184840
652	BMP4	HP:0005280	Depressed nasal bridge	-	OMIM:156550
652	BMP4	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:828
652	BMP4	HP:0005280	Depressed nasal bridge	9/9	OMIM:154780
652	BMP4	HP:0000483	Astigmatism	HP:0040282	ORPHA:828
652	BMP4	HP:0000486	Strabismus	HP:0040283	ORPHA:828
652	BMP4	HP:0000482	Microcornea	-	OMIM:607932
652	BMP4	HP:0000482	Microcornea	HP:0040282	ORPHA:139471
652	BMP4	HP:0000478	Abnormality of the eye	0/3	OMIM:184840
652	BMP4	HP:0000463	Anteverted nares	27/28	OMIM:184840
652	BMP4	HP:0000463	Anteverted nares	HP:0040282	ORPHA:828
652	BMP4	HP:0000463	Anteverted nares	-	OMIM:154780
652	BMP4	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:828
652	BMP4	HP:0000470	Short neck	-	OMIM:156550
652	BMP4	HP:0001770	Toe syndactyly	-	OMIM:607932
652	BMP4	HP:0000411	Protruding ear	-	OMIM:607932
652	BMP4	HP:0025707	Hypoplastic fetal nasal bone	-	OMIM:154780
652	BMP4	HP:0005462	Calcification of falx cerebri	-	OMIM:154780
652	BMP4	HP:0000518	Cataract	-	OMIM:156550
652	BMP4	HP:0000518	Cataract	-	OMIM:143200
652	BMP4	HP:0000518	Cataract	HP:0040281	ORPHA:828
652	BMP4	HP:0000518	Cataract	9/9	OMIM:154780
652	BMP4	HP:0000518	Cataract	HP:0040282	ORPHA:139471
652	BMP4	HP:0000519	Developmental cataract	HP:0040283	ORPHA:828
652	BMP4	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
652	BMP4	HP:0000528	Anophthalmia	HP:0040281	ORPHA:139471
652	BMP4	HP:0000528	Anophthalmia	-	OMIM:607932
652	BMP4	HP:0000520	Proptosis	HP:0040282	ORPHA:828
652	BMP4	HP:0000520	Proptosis	-	OMIM:156550
652	BMP4	HP:0000506	Telecanthus	HP:0040281	ORPHA:828
652	BMP4	HP:0000505	Visual impairment	HP:0040281	ORPHA:828
652	BMP4	HP:0001830	Postaxial foot polydactyly	HP:0040283	ORPHA:139471
652	BMP4	HP:0000501	Glaucoma	HP:0040283	ORPHA:828
652	BMP4	HP:0000501	Glaucoma	-	OMIM:154780
652	BMP4	HP:0000501	Glaucoma	-	OMIM:143200
652	BMP4	HP:0000575	Scotoma	5/18	OMIM:180100
652	BMP4	HP:0000589	Coloboma	-	OMIM:607932
652	BMP4	HP:0000554	Uveitis	HP:0040283	ORPHA:828
652	BMP4	HP:0000556	Retinal dystrophy	-	OMIM:607932
652	BMP4	HP:0000556	Retinal dystrophy	HP:0040283	ORPHA:139471
652	BMP4	HP:0000572	Visual loss	-	OMIM:143200
652	BMP4	HP:0000568	Microphthalmia	-	OMIM:607932
652	BMP4	HP:0000568	Microphthalmia	HP:0040281	ORPHA:139471
652	BMP4	HP:0000565	Esotropia	-	OMIM:154780
652	BMP4	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:139471
652	BMP4	HP:0000541	Retinal detachment	HP:0040281	ORPHA:828
652	BMP4	HP:0000541	Retinal detachment	-	OMIM:154780
652	BMP4	HP:0000541	Retinal detachment	-	OMIM:156550
652	BMP4	HP:0000533	Chorioretinal atrophy	-	OMIM:143200
652	BMP4	HP:0000543	Optic disc pallor	1/1	OMIM:180100
652	BMP4	HP:0000545	Myopia	-	OMIM:607932
652	BMP4	HP:0000545	Myopia	-	OMIM:180100
652	BMP4	HP:0000545	Myopia	1/1	OMIM:156550
652	BMP4	HP:0000545	Myopia	-	OMIM:143200
652	BMP4	HP:0000545	Myopia	HP:0040281	ORPHA:828
652	BMP4	HP:0000545	Myopia	9/9	OMIM:154780
652	BMP4	HP:0000545	Myopia	HP:0040283	ORPHA:139471
654	BMP6	HP:0001254	Lethargy	HP:0040283	ORPHA:465508
654	BMP6	HP:0001394	Cirrhosis	HP:0040283	ORPHA:465508
654	BMP6	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:465508
654	BMP6	HP:0001369	Arthritis	HP:0040283	ORPHA:465508
654	BMP6	HP:0001386	Joint swelling	HP:0040283	ORPHA:465508
654	BMP6	HP:0001387	Joint stiffness	HP:0040283	ORPHA:465508
654	BMP6	HP:0000029	Testicular atrophy	HP:0040283	ORPHA:465508
654	BMP6	HP:0001324	Muscle weakness	HP:0040283	ORPHA:465508
654	BMP6	HP:0000006	Autosomal dominant inheritance	-	OMIM:620121
654	BMP6	HP:0000141	Amenorrhea	HP:0040283	ORPHA:465508
654	BMP6	HP:0007574	Generalized bronze hyperpigmentation	HP:0040282	ORPHA:465508
654	BMP6	HP:0001409	Portal hypertension	HP:0040283	ORPHA:465508
654	BMP6	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:465508
654	BMP6	HP:0002027	Abdominal pain	HP:0040282	ORPHA:465508
654	BMP6	HP:0005978	Type II diabetes mellitus	1/8	OMIM:620121
654	BMP6	HP:0011911	Abnormal metacarpophalangeal joint morphology	HP:0040283	ORPHA:465508
654	BMP6	HP:0046504	Decreased libido	HP:0040283	ORPHA:465508
654	BMP6	HP:0003596	Middle age onset	6/8	OMIM:620121
654	BMP6	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:465508
654	BMP6	HP:0003584	Late onset	2/8	OMIM:620121
654	BMP6	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:465508
654	BMP6	HP:0100626	Chronic hepatic failure	HP:0040283	ORPHA:465508
654	BMP6	HP:0100639	Erectile dysfunction	HP:0040283	ORPHA:465508
654	BMP6	HP:0031877	Elevated circulating hepcidin concentration	4/6	OMIM:620121
654	BMP6	HP:0003074	Hyperglycemia	HP:0040282	ORPHA:465508
654	BMP6	HP:0003040	Arthropathy	HP:0040282	ORPHA:465508
654	BMP6	HP:0000771	Gynecomastia	HP:0040283	ORPHA:465508
654	BMP6	HP:0000741	Apathy	HP:0040284	ORPHA:465508
654	BMP6	HP:0000789	Infertility	HP:0040283	ORPHA:465508
654	BMP6	HP:0003199	Decreased muscle mass	HP:0040282	ORPHA:465508
654	BMP6	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:465508
654	BMP6	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:465508
654	BMP6	HP:0003281	Increased circulating ferritin concentration	HP:0040281	ORPHA:465508
654	BMP6	HP:0003281	Increased circulating ferritin concentration	8/8	OMIM:620121
654	BMP6	HP:0030848	Elevated jugular venous pressure	HP:0040283	ORPHA:465508
654	BMP6	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:465508
654	BMP6	HP:0000939	Osteoporosis	HP:0040283	ORPHA:465508
654	BMP6	HP:0040171	Decreased serum testosterone concentration	HP:0040283	ORPHA:465508
654	BMP6	HP:0011675	Arrhythmia	HP:0040284	ORPHA:465508
654	BMP6	HP:0002829	Arthralgia	HP:0040283	ORPHA:465508
654	BMP6	HP:0002829	Arthralgia	2/8	OMIM:620121
654	BMP6	HP:0012378	Fatigue	HP:0040282	ORPHA:465508
654	BMP6	HP:0011031	Abnormality of iron homeostasis	HP:0040281	ORPHA:465508
654	BMP6	HP:0005198	Stiff interphalangeal joints	HP:0040283	ORPHA:465508
654	BMP6	HP:0030153	Cholangiocarcinoma	HP:0040284	ORPHA:465508
654	BMP6	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:465508
654	BMP6	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:465508
654	BMP6	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:465508
654	BMP6	HP:0012463	Elevated transferrin saturation	HP:0040281	ORPHA:465508
654	BMP6	HP:0012463	Elevated transferrin saturation	4/8	OMIM:620121
654	BMP6	HP:0012465	Elevated hepatic iron concentration	-	OMIM:620121
654	BMP6	HP:0001744	Splenomegaly	HP:0040283	ORPHA:465508
654	BMP6	HP:0001824	Weight loss	HP:0040283	ORPHA:465508
657	BMPR1A	HP:0001123	Visual field defect	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0001276	Hypertonia	HP:0040282	ORPHA:440437
657	BMPR1A	HP:0001270	Motor delay	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0001288	Gait disturbance	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0002584	Intestinal bleeding	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0001250	Seizure	HP:0040282	ORPHA:440437
657	BMPR1A	HP:0001252	Hypotonia	HP:0040282	ORPHA:440437
657	BMPR1A	HP:0001249	Intellectual disability	HP:0040282	ORPHA:79076
657	BMPR1A	HP:0001260	Dysarthria	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0002576	Intussusception	HP:0040283	OMIM:174900
657	BMPR1A	HP:0002576	Intussusception	HP:0040283	ORPHA:157794
657	BMPR1A	HP:0002576	Intussusception	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
657	BMPR1A	HP:0002573	Hematochezia	HP:0040281	ORPHA:157794
657	BMPR1A	HP:0002573	Hematochezia	HP:0040282	ORPHA:329971
657	BMPR1A	HP:0002573	Hematochezia	HP:0040282	ORPHA:79076
657	BMPR1A	HP:0100896	Rectal polyposis	HP:0040282	ORPHA:329971
657	BMPR1A	HP:0100896	Rectal polyposis	HP:0040282	ORPHA:157794
657	BMPR1A	HP:0007378	Neoplasm of the gastrointestinal tract	HP:0040282	ORPHA:157794
657	BMPR1A	HP:0001217	Clubbing	HP:0040283	OMIM:174900
657	BMPR1A	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:440437
657	BMPR1A	HP:0001371	Flexion contracture	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
657	BMPR1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
657	BMPR1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:610069
657	BMPR1A	HP:0012198	Juvenile colonic polyposis	-	OMIM:610069
657	BMPR1A	HP:0012198	Juvenile colonic polyposis	HP:0040282	ORPHA:157794
657	BMPR1A	HP:0012183	Hyperplastic colonic polyposis	-	OMIM:610069
657	BMPR1A	HP:0012183	Hyperplastic colonic polyposis	HP:0040281	ORPHA:157794
657	BMPR1A	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:440437
657	BMPR1A	HP:0000160	Narrow mouth	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0012125	Prostate cancer	HP:0040284	ORPHA:157794
657	BMPR1A	HP:0012126	Stomach cancer	HP:0040284	ORPHA:440437
657	BMPR1A	HP:0012114	Endometrial carcinoma	HP:0040284	ORPHA:157794
657	BMPR1A	HP:0002705	High, narrow palate	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0012113	Abnormal circulating creatine concentration	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0002024	Malabsorption	HP:0040281	ORPHA:440437
657	BMPR1A	HP:0002019	Constipation	HP:0040281	ORPHA:440437
657	BMPR1A	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:440437
657	BMPR1A	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
657	BMPR1A	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0002027	Abdominal pain	HP:0040281	ORPHA:440437
657	BMPR1A	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
657	BMPR1A	HP:0002027	Abdominal pain	HP:0040282	ORPHA:79076
657	BMPR1A	HP:0002003	Large forehead	HP:0040282	ORPHA:79076
657	BMPR1A	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
657	BMPR1A	HP:0002014	Diarrhea	HP:0040281	ORPHA:79076
657	BMPR1A	HP:0002007	Frontal bossing	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0002076	Migraine	HP:0040282	ORPHA:440437
657	BMPR1A	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0040276	Adenocarcinoma of the colon	HP:0040283	ORPHA:157794
657	BMPR1A	HP:0004783	Duodenal polyposis	HP:0040284	ORPHA:329971
657	BMPR1A	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0010526	Dysgraphia	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0003401	Paresthesia	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0002243	Protein-losing enteropathy	HP:0040282	ORPHA:79076
657	BMPR1A	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:440437
657	BMPR1A	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:79076
657	BMPR1A	HP:0002249	Melena	HP:0040282	ORPHA:79076
657	BMPR1A	HP:0009726	Renal neoplasm	-	ORPHA:440437
657	BMPR1A	HP:0100743	Neoplasm of the rectum	HP:0040283	ORPHA:157794
657	BMPR1A	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:440437
657	BMPR1A	HP:0100759	Clubbing of fingers	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:440437
657	BMPR1A	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0001031	Subcutaneous lipoma	HP:0040284	ORPHA:79076
657	BMPR1A	HP:0001028	Hemangioma	HP:0040282	ORPHA:79076
657	BMPR1A	HP:0002376	Developmental regression	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0002354	Memory impairment	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0001017	Anemic pallor	HP:0040282	ORPHA:329971
657	BMPR1A	HP:0100660	Dyskinesia	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0200063	Colorectal polyposis	HP:0040282	ORPHA:157794
657	BMPR1A	HP:0100615	Ovarian neoplasm	-	ORPHA:440437
657	BMPR1A	HP:0010797	Hemangioblastoma	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0010784	Uterine neoplasm	HP:0040284	ORPHA:440437
657	BMPR1A	HP:0005505	Refractory anemia	HP:0040282	ORPHA:79076
657	BMPR1A	HP:0005505	Refractory anemia	HP:0040282	ORPHA:157794
657	BMPR1A	HP:0001903	Anemia	HP:0040282	OMIM:174900
657	BMPR1A	HP:0001903	Anemia	HP:0040281	ORPHA:79076
657	BMPR1A	HP:0001903	Anemia	HP:0040282	ORPHA:329971
657	BMPR1A	HP:0011304	Broad thumb	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:79076
657	BMPR1A	HP:0004322	Short stature	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0003003	Colon cancer	20%	OMIM:174900
657	BMPR1A	HP:0003003	Colon cancer	HP:0040282	ORPHA:157794
657	BMPR1A	HP:0003003	Colon cancer	-	OMIM:610069
657	BMPR1A	HP:0003003	Colon cancer	5/12	OMIM:608456
657	BMPR1A	HP:0004326	Cachexia	HP:0040282	ORPHA:79076
657	BMPR1A	HP:0003073	Hypoalbuminemia	-	OMIM:174900
657	BMPR1A	HP:0003073	Hypoalbuminemia	HP:0040282	ORPHA:79076
657	BMPR1A	HP:0004394	Multiple gastric polyps	HP:0040283	ORPHA:329971
657	BMPR1A	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
657	BMPR1A	HP:0004390	Hamartomatous polyposis	HP:0040282	ORPHA:79076
657	BMPR1A	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0100013	Neoplasm of the breast	-	ORPHA:440437
657	BMPR1A	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0000738	Hallucinations	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0000737	Irritability	HP:0040282	ORPHA:440437
657	BMPR1A	HP:0000739	Anxiety	HP:0040282	ORPHA:440437
657	BMPR1A	HP:0000716	Depression	HP:0040282	ORPHA:440437
657	BMPR1A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:440437
657	BMPR1A	HP:0010174	Broad phalanx of the toes	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0100273	Neoplasm of the colon	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0000969	Edema	HP:0040283	ORPHA:329971
657	BMPR1A	HP:0100245	Gastrointestinal desmoid tumor	HP:0040284	ORPHA:157794
657	BMPR1A	HP:0000256	Macrocephaly	HP:0040282	ORPHA:79076
657	BMPR1A	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0002890	Thyroid carcinoma	HP:0040284	ORPHA:157794
657	BMPR1A	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
657	BMPR1A	HP:0001510	Growth delay	HP:0040283	ORPHA:329971
657	BMPR1A	HP:0012378	Fatigue	HP:0040281	ORPHA:440437
657	BMPR1A	HP:0005227	Adenomatous colonic polyposis	HP:0040282	ORPHA:157794
657	BMPR1A	HP:0005227	Adenomatous colonic polyposis	HP:0040282	ORPHA:329971
657	BMPR1A	HP:0005227	Adenomatous colonic polyposis	-	OMIM:610069
657	BMPR1A	HP:0005227	Adenomatous colonic polyposis	HP:0040280	ORPHA:79076
657	BMPR1A	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
657	BMPR1A	HP:0002900	Hypokalemia	-	OMIM:174900
657	BMPR1A	HP:0000369	Low-set ears	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0000316	Hypertelorism	HP:0040282	ORPHA:79076
657	BMPR1A	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0000331	Short chin	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0006608	Midclavicular hypoplasia	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0030257	Freckled genitalia	HP:0040283	ORPHA:79076
657	BMPR1A	HP:0030256	Small intestinal polyposis	HP:0040284	ORPHA:329971
657	BMPR1A	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
657	BMPR1A	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
657	BMPR1A	HP:0006771	Duodenal adenocarcinoma	HP:0040284	ORPHA:157794
657	BMPR1A	HP:0001824	Weight loss	HP:0040281	ORPHA:440437
657	BMPR1A	HP:0000505	Visual impairment	HP:0040283	ORPHA:440437
657	BMPR1A	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:329971
657	BMPR1A	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:79076
657	BMPR1A	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:157794
658	BMPR1B	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:2639
658	BMPR1B	HP:0001156	Brachydactyly	HP:0040281	ORPHA:2098
658	BMPR1B	HP:0001156	Brachydactyly	1/1	OMIM:609441
658	BMPR1B	HP:0001156	Brachydactyly	HP:0040281	ORPHA:2639
658	BMPR1B	HP:0001162	Postaxial hand polydactyly	HP:0040282	ORPHA:2098
658	BMPR1B	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
658	BMPR1B	HP:0001293	Cranial nerve compression	-	OMIM:131300
658	BMPR1B	HP:0001252	Hypotonia	2/7	OMIM:615777
658	BMPR1B	HP:0001249	Intellectual disability	5/7	OMIM:615777
658	BMPR1B	HP:0001263	Global developmental delay	-	OMIM:615777
658	BMPR1B	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:93384
658	BMPR1B	HP:0001230	Broad metacarpals	HP:0040283	ORPHA:93388
658	BMPR1B	HP:0100864	Short femoral neck	1/1	OMIM:609441
658	BMPR1B	HP:0001204	Distal symphalangism of hands	HP:0040283	ORPHA:93388
658	BMPR1B	HP:0002515	Waddling gait	54/102	OMIM:131300
658	BMPR1B	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:2639
658	BMPR1B	HP:0001387	Joint stiffness	HP:0040281	ORPHA:2098
658	BMPR1B	HP:0001382	Joint hypermobility	-	OMIM:615777
658	BMPR1B	HP:0002694	Sclerosis of skull base	-	OMIM:131300
658	BMPR1B	HP:0008897	Postnatal growth retardation	-	OMIM:615777
658	BMPR1B	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:2098
658	BMPR1B	HP:0008873	Disproportionate short-limb short stature	1/1	OMIM:609441
658	BMPR1B	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
658	BMPR1B	HP:0001324	Muscle weakness	40/96	OMIM:131300
658	BMPR1B	HP:0000013	Hypoplasia of the uterus	1/1	OMIM:609441
658	BMPR1B	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
658	BMPR1B	HP:0000007	Autosomal recessive inheritance	-	OMIM:609441
658	BMPR1B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
658	BMPR1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:112600
658	BMPR1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
658	BMPR1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:616849
658	BMPR1B	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:2098
658	BMPR1B	HP:0002650	Scoliosis	HP:0040283	ORPHA:93388
658	BMPR1B	HP:0002650	Scoliosis	12/14	OMIM:131300
658	BMPR1B	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
658	BMPR1B	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
658	BMPR1B	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
658	BMPR1B	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
658	BMPR1B	HP:0000175	Cleft palate	2/7	OMIM:615777
658	BMPR1B	HP:0005028	Widened proximal tibial metaphyses	1/1	OMIM:609441
658	BMPR1B	HP:0007598	Bilateral single transverse palmar creases	HP:0040281	ORPHA:2639
658	BMPR1B	HP:0002750	Delayed skeletal maturation	1/1	OMIM:609441
658	BMPR1B	HP:0004691	2-3 toe syndactyly	-	OMIM:112600
658	BMPR1B	HP:0003388	Easy fatigability	36/76	OMIM:131300
658	BMPR1B	HP:0009465	Ulnar deviation of finger	HP:0040281	ORPHA:93384
658	BMPR1B	HP:0009464	Ulnar deviation of the 2nd finger	-	OMIM:112600
658	BMPR1B	HP:0009467	Radial deviation of the 2nd finger	-	OMIM:112600
658	BMPR1B	HP:0009466	Radial deviation of finger	1/1	OMIM:609441
658	BMPR1B	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
658	BMPR1B	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2639
658	BMPR1B	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	HP:0040281	ORPHA:2098
658	BMPR1B	HP:0009495	Pseudoepiphysis of the 2nd finger	HP:0040281	ORPHA:93384
658	BMPR1B	HP:0009606	Complete duplication of distal phalanx of the thumb	HP:0040282	ORPHA:93384
658	BMPR1B	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040282	ORPHA:2098
658	BMPR1B	HP:0009575	Triangular shaped middle phalanx of the 2nd finger	-	OMIM:112600
658	BMPR1B	HP:0008232	Elevated circulating follicle stimulating hormone level	1/1	OMIM:609441
658	BMPR1B	HP:0009566	Short distal phalanx of the 2nd finger	2/2	OMIM:616849
658	BMPR1B	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	-	OMIM:112600
658	BMPR1B	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	2/2	OMIM:616849
658	BMPR1B	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	HP:0040283	ORPHA:93396
658	BMPR1B	HP:0009536	Short 2nd finger	-	OMIM:112600
658	BMPR1B	HP:0010508	Metatarsus valgus	HP:0040283	ORPHA:93384
658	BMPR1B	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:93384
658	BMPR1B	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:93388
658	BMPR1B	HP:0009596	Aplasia of the proximal phalanx of the 2nd finger	1/1	OMIM:609441
658	BMPR1B	HP:0002275	Poor motor coordination	-	OMIM:616849
658	BMPR1B	HP:0003577	Congenital onset	2/2	OMIM:616849
658	BMPR1B	HP:0009702	Carpal synostosis	1/1	OMIM:609441
658	BMPR1B	HP:0008368	Tarsal synostosis	HP:0040281	ORPHA:2639
658	BMPR1B	HP:0008368	Tarsal synostosis	HP:0040281	ORPHA:2098
658	BMPR1B	HP:0008368	Tarsal synostosis	1/1	OMIM:609441
658	BMPR1B	HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb	HP:0040282	ORPHA:93384
658	BMPR1B	HP:0011969	Elevated circulating luteinizing hormone level	1/1	OMIM:609441
658	BMPR1B	HP:0009650	Short distal phalanx of the thumb	2/2	OMIM:616849
658	BMPR1B	HP:0009638	Short proximal phalanx of thumb	2/2	OMIM:616849
658	BMPR1B	HP:0003510	Severe short stature	7/7	OMIM:615777
658	BMPR1B	HP:0002315	Headache	-	OMIM:131300
658	BMPR1B	HP:0004976	Knee dislocation	6/7	OMIM:615777
658	BMPR1B	HP:0009826	Limb undergrowth	1/1	OMIM:609441
658	BMPR1B	HP:0009803	Short phalanx of finger	-	OMIM:615777
658	BMPR1B	HP:0009803	Short phalanx of finger	1/1	OMIM:609441
658	BMPR1B	HP:0009773	Symphalangism affecting the phalanges of the hand	HP:0040283	ORPHA:93384
658	BMPR1B	HP:0009778	Short thumb	HP:0040281	ORPHA:93388
658	BMPR1B	HP:0010743	Short metatarsal	HP:0040282	ORPHA:93384
658	BMPR1B	HP:0009763	Limb pain	63/92	OMIM:131300
658	BMPR1B	HP:0003621	Juvenile onset	-	OMIM:131300
658	BMPR1B	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
658	BMPR1B	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:112600
658	BMPR1B	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:93396
658	BMPR1B	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:93384
658	BMPR1B	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:93388
658	BMPR1B	HP:0004209	Clinodactyly of the 5th finger	2/2	OMIM:616849
658	BMPR1B	HP:0004220	Short middle phalanx of the 5th finger	-	OMIM:112600
658	BMPR1B	HP:0004220	Short middle phalanx of the 5th finger	2/2	OMIM:616849
658	BMPR1B	HP:0004220	Short middle phalanx of the 5th finger	HP:0040283	ORPHA:93396
658	BMPR1B	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
658	BMPR1B	HP:6001056	Out-toeing	-	OMIM:131300
658	BMPR1B	HP:0000651	Diplopia	-	OMIM:131300
658	BMPR1B	HP:0001956	Truncal obesity	2/7	OMIM:615777
658	BMPR1B	HP:0001903	Anemia	HP:0040283	OMIM:131300
658	BMPR1B	HP:0010049	Short metacarpal	-	OMIM:615777
658	BMPR1B	HP:0010055	Broad hallux	-	OMIM:112600
658	BMPR1B	HP:0010038	Short 2nd metacarpal	HP:0040283	ORPHA:93396
658	BMPR1B	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	HP:0040281	ORPHA:93384
658	BMPR1B	HP:0010034	Short 1st metacarpal	1/1	OMIM:609441
658	BMPR1B	HP:0000678	Dental crowding	-	OMIM:615777
658	BMPR1B	HP:0000670	Carious teeth	-	OMIM:131300
658	BMPR1B	HP:0011304	Broad thumb	2/7	OMIM:615777
658	BMPR1B	HP:0000668	Hypodontia	-	OMIM:615777
658	BMPR1B	HP:0000664	Synophrys	-	OMIM:615777
658	BMPR1B	HP:0004322	Short stature	HP:0040283	ORPHA:93384
658	BMPR1B	HP:0004322	Short stature	HP:0040281	ORPHA:93388
658	BMPR1B	HP:0004322	Short stature	HP:0040281	ORPHA:2639
658	BMPR1B	HP:0004396	Poor appetite	-	OMIM:131300
658	BMPR1B	HP:0003038	Fibular hypoplasia	HP:0040282	ORPHA:2098
658	BMPR1B	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
658	BMPR1B	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
658	BMPR1B	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
658	BMPR1B	HP:0003026	Short long bone	7/7	OMIM:615777
658	BMPR1B	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
658	BMPR1B	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:93388
658	BMPR1B	HP:0003022	Hypoplasia of the ulna	1/1	OMIM:609441
658	BMPR1B	HP:0000767	Pectus excavatum	2/7	OMIM:615777
658	BMPR1B	HP:0000768	Pectus carinatum	1/7	OMIM:615777
658	BMPR1B	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
658	BMPR1B	HP:0000750	Delayed speech and language development	1/2	OMIM:616849
658	BMPR1B	HP:0000750	Delayed speech and language development	-	OMIM:615777
658	BMPR1B	HP:0009182	Triangular shaped middle phalanx of the 5th finger	-	OMIM:112600
658	BMPR1B	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	-	OMIM:112600
658	BMPR1B	HP:0011461	Fetal onset	7/7	OMIM:615777
658	BMPR1B	HP:0010109	Short hallux	-	OMIM:112600
658	BMPR1B	HP:0010109	Short hallux	HP:0040281	ORPHA:93388
658	BMPR1B	HP:0000774	Narrow chest	2/7	OMIM:615777
658	BMPR1B	HP:0000786	Primary amenorrhea	1/1	OMIM:609441
658	BMPR1B	HP:0005736	Short tibia	HP:0040282	ORPHA:2098
658	BMPR1B	HP:0000926	Platyspondyly	1/7	OMIM:615777
658	BMPR1B	HP:0003180	Flat acetabular roof	-	OMIM:615777
658	BMPR1B	HP:0004482	Relative macrocephaly	-	OMIM:615777
658	BMPR1B	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
658	BMPR1B	HP:0100387	Aplasia of the middle phalanges of the toes	HP:0040281	ORPHA:2098
658	BMPR1B	HP:0000815	Hypergonadotropic hypogonadism	1/1	OMIM:609441
658	BMPR1B	HP:0000823	Delayed puberty	-	OMIM:131300
658	BMPR1B	HP:0040071	Abnormal morphology of ulna	HP:0040281	ORPHA:2639
658	BMPR1B	HP:0010241	Short proximal phalanx of finger	2/2	OMIM:616849
658	BMPR1B	HP:0000894	Short clavicles	-	OMIM:615777
658	BMPR1B	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
658	BMPR1B	HP:0003272	Abnormal hip bone morphology	HP:0040281	ORPHA:2639
658	BMPR1B	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
658	BMPR1B	HP:0100242	Sarcoma	HP:0040281	ORPHA:2098
658	BMPR1B	HP:0008096	Medially deviated second toe	-	OMIM:112600
658	BMPR1B	HP:0005819	Short middle phalanx of finger	HP:0040283	ORPHA:93396
658	BMPR1B	HP:0005819	Short middle phalanx of finger	HP:0040281	ORPHA:93384
658	BMPR1B	HP:0005819	Short middle phalanx of finger	HP:0040281	ORPHA:93388
658	BMPR1B	HP:0009381	Short finger	-	OMIM:609441
658	BMPR1B	HP:0009373	Type C brachydactyly	HP:0040281	ORPHA:93384
658	BMPR1B	HP:0009372	Type A2 brachydactyly	HP:0040281	ORPHA:93396
658	BMPR1B	HP:0000286	Epicanthus	1/7	OMIM:615777
658	BMPR1B	HP:0000280	Coarse facial features	2/7	OMIM:615777
658	BMPR1B	HP:0002818	Abnormal morphology of the radius	HP:0040281	ORPHA:2639
658	BMPR1B	HP:0002827	Hip dislocation	3/7	OMIM:615777
658	BMPR1B	HP:0005048	Synostosis of carpal bones	HP:0040281	ORPHA:2639
658	BMPR1B	HP:0005048	Synostosis of carpal bones	HP:0040281	ORPHA:2098
658	BMPR1B	HP:0000252	Microcephaly	-	OMIM:615777
658	BMPR1B	HP:0002857	Genu valgum	-	OMIM:131300
658	BMPR1B	HP:0001522	Death in infancy	HP:0040283	ORPHA:2098
658	BMPR1B	HP:0001533	Slender build	-	OMIM:131300
658	BMPR1B	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
658	BMPR1B	HP:0007807	Optic nerve compression	-	OMIM:131300
658	BMPR1B	HP:0012368	Flat face	7/7	OMIM:615777
658	BMPR1B	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
658	BMPR1B	HP:0006492	Aplasia/Hypoplasia of the fibula	HP:0040281	ORPHA:2639
658	BMPR1B	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:2098
658	BMPR1B	HP:0000365	Hearing impairment	10/67	OMIM:131300
658	BMPR1B	HP:0000343	Long philtrum	1/7	OMIM:615777
658	BMPR1B	HP:0011001	Increased bone mineral density	-	OMIM:131300
658	BMPR1B	HP:0002983	Micromelia	HP:0040281	ORPHA:2098
658	BMPR1B	HP:0002983	Micromelia	HP:0040281	ORPHA:2639
658	BMPR1B	HP:0000311	Round face	2/7	OMIM:615777
658	BMPR1B	HP:0002992	Abnormal tibia morphology	HP:0040281	ORPHA:2639
658	BMPR1B	HP:0002990	Fibular aplasia	1/1	OMIM:609441
658	BMPR1B	HP:0002970	Genu varum	-	OMIM:615777
658	BMPR1B	HP:0000303	Mandibular prognathia	-	OMIM:131300
658	BMPR1B	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
658	BMPR1B	HP:0000470	Short neck	1/7	OMIM:615777
658	BMPR1B	HP:0001773	Short foot	HP:0040282	ORPHA:93396
658	BMPR1B	HP:0001773	Short foot	HP:0040281	ORPHA:93388
658	BMPR1B	HP:0001773	Short foot	HP:0040281	ORPHA:2098
658	BMPR1B	HP:0001769	Broad foot	HP:0040283	OMIM:615777
658	BMPR1B	HP:0001769	Broad foot	1/1	OMIM:609441
658	BMPR1B	HP:0001763	Pes planus	1/7	OMIM:615777
658	BMPR1B	HP:0000446	Narrow nasal bridge	HP:0040281	ORPHA:2639
658	BMPR1B	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:609441
658	BMPR1B	HP:0001760	Abnormal foot morphology	0/2	OMIM:616849
658	BMPR1B	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:93388
658	BMPR1B	HP:0001762	Talipes equinovarus	-	OMIM:609441
658	BMPR1B	HP:0001840	Metatarsus adductus	-	OMIM:615777
658	BMPR1B	HP:0000520	Proptosis	2/4	OMIM:131300
658	BMPR1B	HP:0000520	Proptosis	7/7	OMIM:615777
658	BMPR1B	HP:0001822	Hallux valgus	-	OMIM:112600
658	BMPR1B	HP:0001831	Short toe	HP:0040281	ORPHA:2098
658	BMPR1B	HP:0001831	Short toe	1/1	OMIM:609441
658	BMPR1B	HP:0000592	Blue sclerae	2/7	OMIM:615777
658	BMPR1B	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
658	BMPR1B	HP:0012514	Lower limb pain	4/4	OMIM:131300
659	BMPR2	HP:0025180	Centrilobular ground-glass opacification on pulmonary HRCT	1/1	OMIM:265450
659	BMPR2	HP:0003829	Typified by incomplete penetrance	-	OMIM:178600
659	BMPR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:178600
659	BMPR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:265450
659	BMPR2	HP:0002094	Dyspnea	HP:0040282	OMIM:178600
659	BMPR2	HP:0002092	Pulmonary arterial hypertension	14/14	OMIM:178600
659	BMPR2	HP:0002092	Pulmonary arterial hypertension	-	OMIM:265450
659	BMPR2	HP:0003596	Middle age onset	1/1	OMIM:178600
659	BMPR2	HP:0001009	Telangiectasia	-	OMIM:178600
659	BMPR2	HP:0004964	Pulmonary arterial medial hypertrophy	HP:0040282	OMIM:178600
659	BMPR2	HP:0001977	Abnormal thrombosis	HP:0040282	OMIM:178600
659	BMPR2	HP:0011353	Arterial intimal fibrosis	-	OMIM:178600
659	BMPR2	HP:0012735	Cough	1/1	OMIM:178600
659	BMPR2	HP:0011462	Young adult onset	9/9	OMIM:178600
659	BMPR2	HP:0000822	Hypertension	-	OMIM:178600
659	BMPR2	HP:0030879	Interlobular septal thickening	1/1	OMIM:265450
659	BMPR2	HP:0030848	Elevated jugular venous pressure	-	OMIM:265450
659	BMPR2	HP:0006518	Pulmonary venous occlusion	-	OMIM:265450
659	BMPR2	HP:0005168	Elevated right atrial pressure	HP:0040281	OMIM:178600
659	BMPR2	HP:0001667	Right ventricular hypertrophy	HP:0040281	OMIM:178600
659	BMPR2	HP:0005312	Pulmonary aterial intimal fibrosis	HP:0040282	OMIM:178600
659	BMPR2	HP:0005308	Pulmonary artery vasoconstriction	HP:0040282	OMIM:178600
659	BMPR2	HP:0005317	Increased pulmonary vascular resistance	HP:0040281	OMIM:178600
659	BMPR2	HP:0001708	Right ventricular failure	HP:0040281	OMIM:178600
659	BMPR2	HP:0031687	Abnormally loud pulmonic component of the second heart sound	1/1	OMIM:265450
667	DST	HP:0001188	Hand clenching	1/3	OMIM:614653
667	DST	HP:0001290	Generalized hypotonia	2/3	OMIM:614653
667	DST	HP:0001284	Areflexia	1/3	OMIM:614653
667	DST	HP:0001252	Hypotonia	3/3	OMIM:614653
667	DST	HP:0001371	Flexion contracture	3/3	OMIM:614653
667	DST	HP:0000007	Autosomal recessive inheritance	-	OMIM:614653
667	DST	HP:0000007	Autosomal recessive inheritance	-	OMIM:615425
667	DST	HP:0001319	Neonatal hypotonia	3/3	OMIM:614653
667	DST	HP:0002643	Neonatal respiratory distress	2/3	OMIM:614653
667	DST	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	2/2	OMIM:615425
667	DST	HP:0000194	Open mouth	2/3	OMIM:614653
667	DST	HP:0007610	Blotching pigmentation of the skin	2/3	OMIM:614653
667	DST	HP:0002020	Gastroesophageal reflux	1/3	OMIM:614653
667	DST	HP:0002033	Poor suck	-	OMIM:614653
667	DST	HP:0002104	Apnea	2/3	OMIM:614653
667	DST	HP:0003593	Infantile onset	1/1	OMIM:615425
667	DST	HP:0008404	Nail dystrophy	0/4	OMIM:615425
667	DST	HP:0011968	Feeding difficulties	-	OMIM:614653
667	DST	HP:0001075	Atrophic scars	0/1	OMIM:615425
667	DST	HP:0010783	Erythema	2/3	OMIM:614653
667	DST	HP:0001945	Fever	-	OMIM:614653
667	DST	HP:0012736	Profound global developmental delay	2/4	OMIM:614653
667	DST	HP:0000763	Sensory neuropathy	-	OMIM:614653
667	DST	HP:0012822	Bilateral vocal cord paresis	1/3	OMIM:614653
667	DST	HP:0003093	Limited hip extension	1/3	OMIM:614653
667	DST	HP:0034252	Absent corneal reflex	1/3	OMIM:614653
667	DST	HP:0000822	Hypertension	1/3	OMIM:614653
667	DST	HP:0010307	Stridor	1/3	OMIM:614653
667	DST	HP:0000975	Hyperhidrosis	1/3	OMIM:614653
667	DST	HP:0000972	Palmoplantar hyperkeratosis	0/1	OMIM:615425
667	DST	HP:0033031	Hyperpyrexia	1/3	OMIM:614653
667	DST	HP:0008066	Abnormal blistering of the skin	4/4	OMIM:615425
667	DST	HP:0000218	High palate	1/3	OMIM:614653
667	DST	HP:0002835	Aspiration	1/3	OMIM:614653
667	DST	HP:0001511	Intrauterine growth retardation	1/3	OMIM:614653
667	DST	HP:0001510	Growth delay	-	OMIM:614653
667	DST	HP:0000369	Low-set ears	1/3	OMIM:614653
667	DST	HP:0001649	Tachycardia	1/3	OMIM:614653
667	DST	HP:0000331	Short chin	1/3	OMIM:614653
667	DST	HP:0001662	Bradycardia	2/3	OMIM:614653
667	DST	HP:0001629	Ventricular septal defect	1/3	OMIM:614653
667	DST	HP:0001623	Breech presentation	2/3	OMIM:614653
667	DST	HP:0001762	Talipes equinovarus	1/3	OMIM:614653
667	DST	HP:0000522	Alacrima	1/3	OMIM:614653
667	DST	HP:0001810	Dystrophic toenail	1/1	OMIM:615425
667	DST	HP:0000559	Corneal scarring	2/3	OMIM:614653
667	DST	HP:0000573	Retinal hemorrhage	1/3	OMIM:614653
668	FOXL2	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:572333
668	FOXL2	HP:0002553	Highly arched eyebrow	-	OMIM:110100
668	FOXL2	HP:0000013	Hypoplasia of the uterus	-	OMIM:110100
668	FOXL2	HP:0000013	Hypoplasia of the uterus	HP:0040283	ORPHA:572333
668	FOXL2	HP:0000013	Hypoplasia of the uterus	-	OMIM:608996
668	FOXL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:608996
668	FOXL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:110100
668	FOXL2	HP:0000144	Decreased fertility	HP:0040283	ORPHA:572333
668	FOXL2	HP:0000141	Amenorrhea	2/3	OMIM:110100
668	FOXL2	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:572333
668	FOXL2	HP:0007656	Lacrimal gland aplasia	HP:0040282	ORPHA:572333
668	FOXL2	HP:0032514	Supernumerary lacrimal punctum	HP:0040283	ORPHA:572333
668	FOXL2	HP:0010464	Streak ovary	HP:0040283	ORPHA:572333
668	FOXL2	HP:0008233	Decreased circulating progesterone	HP:0040283	ORPHA:572333
668	FOXL2	HP:0008232	Elevated circulating follicle stimulating hormone level	HP:0040283	ORPHA:572333
668	FOXL2	HP:0008222	Female infertility	-	OMIM:110100
668	FOXL2	HP:0008222	Female infertility	HP:0040283	ORPHA:572333
668	FOXL2	HP:0008209	Premature ovarian insufficiency	-	OMIM:110100
668	FOXL2	HP:0008209	Premature ovarian insufficiency	HP:0040283	ORPHA:572333
668	FOXL2	HP:0008209	Premature ovarian insufficiency	-	OMIM:608996
668	FOXL2	HP:0008214	Decreased serum estradiol	HP:0040283	ORPHA:572333
668	FOXL2	HP:0002225	Sparse pubic hair	-	OMIM:110100
668	FOXL2	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040283	ORPHA:572333
668	FOXL2	HP:0010748	Ectopic lacrimal punctum	HP:0040283	ORPHA:572333
668	FOXL2	HP:0000639	Nystagmus	-	OMIM:110100
668	FOXL2	HP:0000639	Nystagmus	HP:0040284	ORPHA:572333
668	FOXL2	HP:0000633	Decreased lacrimation	HP:0040282	ORPHA:572333
668	FOXL2	HP:0000646	Amblyopia	HP:0040282	ORPHA:572333
668	FOXL2	HP:0000656	Ectropion	HP:0040283	ORPHA:572333
668	FOXL2	HP:0000769	Abnormality of the breast	0/3	OMIM:110100
668	FOXL2	HP:0011481	Abnormal lacrimal duct morphology	HP:0040282	ORPHA:572333
668	FOXL2	HP:0000876	Oligomenorrhea	HP:0040283	ORPHA:572333
668	FOXL2	HP:0000858	Irregular menstruation	-	OMIM:110100
668	FOXL2	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:572333
668	FOXL2	HP:0000869	Secondary amenorrhea	-	OMIM:608996
668	FOXL2	HP:0000837	Increased circulating gonadotropin level	-	OMIM:110100
668	FOXL2	HP:0000815	Hypergonadotropic hypogonadism	HP:0040283	ORPHA:572333
668	FOXL2	HP:0045025	Narrow palpebral fissure	4/4	OMIM:110100
668	FOXL2	HP:0025572	Punctal stenosis	HP:0040283	ORPHA:572333
668	FOXL2	HP:0007732	Lacrimal gland hypoplasia	HP:0040283	ORPHA:572333
668	FOXL2	HP:0000252	Microcephaly	0/4	OMIM:110100
668	FOXL2	HP:0000218	High palate	-	OMIM:110100
668	FOXL2	HP:0007835	S-shaped palpebral fissures	HP:0040283	ORPHA:572333
668	FOXL2	HP:0000378	Cupped ear	-	OMIM:110100
668	FOXL2	HP:0000369	Low-set ears	HP:0040282	ORPHA:572333
668	FOXL2	HP:0000322	Short philtrum	HP:0040282	ORPHA:572333
668	FOXL2	HP:0005280	Depressed nasal bridge	-	OMIM:110100
668	FOXL2	HP:0000486	Strabismus	-	OMIM:110100
668	FOXL2	HP:0000486	Strabismus	HP:0040283	ORPHA:572333
668	FOXL2	HP:0000482	Microcornea	-	OMIM:110100
668	FOXL2	HP:0000431	Wide nasal bridge	-	OMIM:110100
668	FOXL2	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:572333
668	FOXL2	HP:0000506	Telecanthus	HP:0040281	ORPHA:572333
668	FOXL2	HP:0000506	Telecanthus	4/4	OMIM:110100
668	FOXL2	HP:0000508	Ptosis	9/9	OMIM:110100
668	FOXL2	HP:0000508	Ptosis	HP:0040281	ORPHA:572333
668	FOXL2	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:572333
668	FOXL2	HP:0000581	Blepharophimosis	9/9	OMIM:110100
668	FOXL2	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:572333
668	FOXL2	HP:0000568	Microphthalmia	-	OMIM:110100
668	FOXL2	HP:0000540	Hypermetropia	-	OMIM:110100
668	FOXL2	HP:0000539	Abnormality of refraction	HP:0040282	ORPHA:572333
668	FOXL2	HP:0000537	Epicanthus inversus	9/9	OMIM:110100
668	FOXL2	HP:0000537	Epicanthus inversus	HP:0040281	ORPHA:572333
669	BPGM	HP:6000557	Reduced erythrocyte bisphosphoglycerate mutase activity	1/1	OMIM:222800
669	BPGM	HP:0000007	Autosomal recessive inheritance	-	OMIM:222800
669	BPGM	HP:0003581	Adult onset	1/1	OMIM:222800
669	BPGM	HP:0001900	Increased circulating hemoglobin concentration	1/1	OMIM:222800
669	BPGM	HP:0001901	Polycythemia	2/2	OMIM:222800
669	BPGM	HP:0001744	Splenomegaly	0/1	OMIM:222800
669	BPGM	HP:0001899	Increased hematocrit	1/1	OMIM:222800
672	BRCA1	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
672	BRCA1	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
672	BRCA1	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
672	BRCA1	HP:0002586	Peritonitis	HP:0040281	ORPHA:168829
672	BRCA1	HP:0001251	Ataxia	0/1	OMIM:617883
672	BRCA1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
672	BRCA1	HP:0001249	Intellectual disability	-	OMIM:617883
672	BRCA1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
672	BRCA1	HP:0001263	Global developmental delay	1/1	OMIM:617883
672	BRCA1	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
672	BRCA1	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
672	BRCA1	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
672	BRCA1	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
672	BRCA1	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
672	BRCA1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
672	BRCA1	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
672	BRCA1	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
672	BRCA1	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
672	BRCA1	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
672	BRCA1	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
672	BRCA1	HP:0025318	Ovarian carcinoma	HP:0040283	ORPHA:1333
672	BRCA1	HP:0025318	Ovarian carcinoma	1/1	OMIM:617883
672	BRCA1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
672	BRCA1	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
672	BRCA1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
672	BRCA1	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
672	BRCA1	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
672	BRCA1	HP:0002664	Neoplasm	HP:0040281	ORPHA:168829
672	BRCA1	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
672	BRCA1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
672	BRCA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617883
672	BRCA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
672	BRCA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:604370
672	BRCA1	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
672	BRCA1	HP:0000189	Narrow palate	-	OMIM:617883
672	BRCA1	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
672	BRCA1	HP:0012125	Prostate cancer	HP:0040283	ORPHA:145
672	BRCA1	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
672	BRCA1	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
672	BRCA1	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
672	BRCA1	HP:0001426	Non-Mendelian inheritance	-	OMIM:604370
672	BRCA1	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
672	BRCA1	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:1333
672	BRCA1	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:1333
672	BRCA1	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
672	BRCA1	HP:0002019	Constipation	HP:0040281	ORPHA:168829
672	BRCA1	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:168829
672	BRCA1	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:1333
672	BRCA1	HP:0002027	Abdominal pain	HP:0040281	ORPHA:168829
672	BRCA1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:70567
672	BRCA1	HP:0002027	Abdominal pain	HP:0040281	ORPHA:1333
672	BRCA1	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
672	BRCA1	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
672	BRCA1	HP:0002039	Anorexia	HP:0040283	ORPHA:70567
672	BRCA1	HP:0002039	Anorexia	HP:0040281	ORPHA:1333
672	BRCA1	HP:0100574	Biliary tract neoplasm	HP:0040281	ORPHA:70567
672	BRCA1	HP:0100592	Peritoneal abscess	HP:0040283	ORPHA:1333
672	BRCA1	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
672	BRCA1	HP:0010469	Absent testis	HP:0040283	ORPHA:84
672	BRCA1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
672	BRCA1	HP:0003418	Back pain	HP:0040281	ORPHA:1333
672	BRCA1	HP:0009623	Proximal placement of thumb	HP:0040284	OMIM:617883
672	BRCA1	HP:0003596	Middle age onset	-	OMIM:604370
672	BRCA1	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
672	BRCA1	HP:0002254	Intermittent diarrhea	HP:0040283	ORPHA:1333
672	BRCA1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
672	BRCA1	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
672	BRCA1	HP:0011985	Acholic stools	HP:0040281	ORPHA:70567
672	BRCA1	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
672	BRCA1	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
672	BRCA1	HP:0100615	Ovarian neoplasm	-	OMIM:604370
672	BRCA1	HP:0100615	Ovarian neoplasm	HP:0040281	ORPHA:145
672	BRCA1	HP:0100615	Ovarian neoplasm	-	OMIM:617883
672	BRCA1	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
672	BRCA1	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
672	BRCA1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
672	BRCA1	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
672	BRCA1	HP:0001945	Fever	HP:0040283	ORPHA:70567
672	BRCA1	HP:0001903	Anemia	HP:0040281	ORPHA:84
672	BRCA1	HP:0001903	Anemia	-	OMIM:617883
672	BRCA1	HP:0000689	Dental malocclusion	-	OMIM:617883
672	BRCA1	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
672	BRCA1	HP:0004322	Short stature	HP:0040281	ORPHA:84
672	BRCA1	HP:0004322	Short stature	1/1	OMIM:617883
672	BRCA1	HP:0003002	Breast carcinoma	-	OMIM:114480
672	BRCA1	HP:0003002	Breast carcinoma	-	OMIM:604370
672	BRCA1	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:145
672	BRCA1	HP:0003002	Breast carcinoma	-	OMIM:617883
672	BRCA1	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:1333
672	BRCA1	HP:0003003	Colon cancer	HP:0040283	ORPHA:1333
672	BRCA1	HP:0004389	Intestinal pseudo-obstruction	HP:0040282	ORPHA:1333
672	BRCA1	HP:0004396	Poor appetite	HP:0040281	ORPHA:1333
672	BRCA1	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
672	BRCA1	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
672	BRCA1	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
672	BRCA1	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
672	BRCA1	HP:0000750	Delayed speech and language development	-	OMIM:617883
672	BRCA1	HP:0011463	Childhood onset	1/1	OMIM:617883
672	BRCA1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
672	BRCA1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1333
672	BRCA1	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
672	BRCA1	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
672	BRCA1	HP:0040012	Chromosome breakage	-	OMIM:617883
672	BRCA1	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
672	BRCA1	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
672	BRCA1	HP:0003270	Abdominal distention	HP:0040281	ORPHA:168829
672	BRCA1	HP:0000989	Pruritus	HP:0040282	ORPHA:70567
672	BRCA1	HP:0000952	Jaundice	HP:0040281	ORPHA:70567
672	BRCA1	HP:0000952	Jaundice	HP:0040282	ORPHA:1333
672	BRCA1	HP:0008070	Sparse hair	-	OMIM:617883
672	BRCA1	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
672	BRCA1	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
672	BRCA1	HP:0000286	Epicanthus	-	OMIM:617883
672	BRCA1	HP:0000280	Coarse facial features	1/1	OMIM:617883
672	BRCA1	HP:0000294	Low anterior hairline	1/1	OMIM:617883
672	BRCA1	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
672	BRCA1	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
672	BRCA1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
672	BRCA1	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
672	BRCA1	HP:0030084	Clinodactyly	-	OMIM:617883
672	BRCA1	HP:0001572	Macrodontia	-	OMIM:617883
672	BRCA1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
672	BRCA1	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:1333
672	BRCA1	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
672	BRCA1	HP:0000252	Microcephaly	1/1	OMIM:617883
672	BRCA1	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
672	BRCA1	HP:0000218	High palate	HP:0040283	ORPHA:84
672	BRCA1	HP:0000215	Thick upper lip vermilion	-	OMIM:617883
672	BRCA1	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:145
672	BRCA1	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
672	BRCA1	HP:0002861	Melanoma	HP:0040283	ORPHA:145
672	BRCA1	HP:0002861	Melanoma	HP:0040283	ORPHA:1333
672	BRCA1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
672	BRCA1	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
672	BRCA1	HP:0001508	Failure to thrive	-	OMIM:617883
672	BRCA1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
672	BRCA1	HP:0001510	Growth delay	HP:0040283	ORPHA:84
672	BRCA1	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
672	BRCA1	HP:0012378	Fatigue	HP:0040282	ORPHA:70567
672	BRCA1	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
672	BRCA1	HP:0011027	Abnormal fallopian tube morphology	HP:0040281	ORPHA:145
672	BRCA1	HP:0005249	Functional intestinal obstruction	HP:0040282	ORPHA:1333
672	BRCA1	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
672	BRCA1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:1333
672	BRCA1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
672	BRCA1	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
672	BRCA1	HP:0012334	Extrahepatic cholestasis	HP:0040282	ORPHA:1333
672	BRCA1	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
672	BRCA1	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
672	BRCA1	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
672	BRCA1	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
672	BRCA1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
672	BRCA1	HP:0000316	Hypertelorism	-	OMIM:617883
672	BRCA1	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
672	BRCA1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
672	BRCA1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
672	BRCA1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
672	BRCA1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
672	BRCA1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
672	BRCA1	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
672	BRCA1	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:1333
672	BRCA1	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
672	BRCA1	HP:0000486	Strabismus	HP:0040283	ORPHA:84
672	BRCA1	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
672	BRCA1	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
672	BRCA1	HP:0000463	Anteverted nares	-	OMIM:617883
672	BRCA1	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
672	BRCA1	HP:0012432	Chronic fatigue	HP:0040281	ORPHA:1333
672	BRCA1	HP:0001763	Pes planus	HP:0040283	ORPHA:84
672	BRCA1	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
672	BRCA1	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
672	BRCA1	HP:0000430	Underdeveloped nasal alae	1/1	OMIM:617883
672	BRCA1	HP:0000426	Prominent nasal bridge	1/1	OMIM:617883
672	BRCA1	HP:0006725	Pancreatic adenocarcinoma	HP:0040280	ORPHA:1333
672	BRCA1	HP:0030406	Primary peritoneal carcinoma	HP:0040281	ORPHA:145
672	BRCA1	HP:0000518	Cataract	HP:0040283	ORPHA:84
672	BRCA1	HP:0000527	Long eyelashes	-	OMIM:617883
672	BRCA1	HP:0000520	Proptosis	HP:0040283	ORPHA:84
672	BRCA1	HP:0001824	Weight loss	HP:0040283	ORPHA:84
672	BRCA1	HP:0001824	Weight loss	HP:0040281	ORPHA:1333
672	BRCA1	HP:0000508	Ptosis	HP:0040283	ORPHA:84
672	BRCA1	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
672	BRCA1	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
672	BRCA1	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
672	BRCA1	HP:0000582	Upslanted palpebral fissure	-	OMIM:617883
672	BRCA1	HP:0000581	Blepharophimosis	-	OMIM:617883
672	BRCA1	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
672	BRCA1	HP:0000568	Microphthalmia	-	OMIM:617883
672	BRCA1	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
672	BRCA1	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
672	BRCA1	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
673	BRAF	HP:0001187	Hyperextensibility of the finger joints	-	OMIM:115150
673	BRAF	HP:0001156	Brachydactyly	HP:0040283	ORPHA:648
673	BRAF	HP:0001156	Brachydactyly	-	OMIM:163950
673	BRAF	HP:0001123	Visual field defect	HP:0040284	ORPHA:96253
673	BRAF	HP:0001117	Sudden loss of visual acuity	HP:0040284	ORPHA:54595
673	BRAF	HP:0010946	Dilatation of the renal pelvis	HP:0040283	ORPHA:648
673	BRAF	HP:0010939	Abnormal nasal bone morphology	HP:0040284	ORPHA:54595
673	BRAF	HP:0008625	Severe sensorineural hearing impairment	HP:0040281	ORPHA:500
673	BRAF	HP:0009908	Anterior creases of earlobe	-	OMIM:115150
673	BRAF	HP:0010885	Avascular necrosis	HP:0040284	ORPHA:96253
673	BRAF	HP:0009891	Underdeveloped supraorbital ridges	-	OMIM:115150
673	BRAF	HP:0009891	Underdeveloped supraorbital ridges	HP:0040281	ORPHA:1340
673	BRAF	HP:0003764	Nevus	HP:0040281	ORPHA:626
673	BRAF	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
673	BRAF	HP:0033505	Livedo reticularis	HP:0040283	ORPHA:96253
673	BRAF	HP:0001297	Stroke	HP:0040283	ORPHA:96253
673	BRAF	HP:0025269	Panic attack	HP:0040284	ORPHA:96253
673	BRAF	HP:0001293	Cranial nerve compression	-	OMIM:131300
673	BRAF	HP:0001290	Generalized hypotonia	4/5	OMIM:613706
673	BRAF	HP:0001290	Generalized hypotonia	13/17	OMIM:115150
673	BRAF	HP:0001276	Hypertonia	-	OMIM:115150
673	BRAF	HP:0001268	Mental deterioration	HP:0040283	ORPHA:389
673	BRAF	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:500
673	BRAF	HP:0001250	Seizure	HP:0040284	ORPHA:54595
673	BRAF	HP:0001250	Seizure	HP:0040283	ORPHA:626
673	BRAF	HP:0001250	Seizure	1/1	OMIM:613707
673	BRAF	HP:0001250	Seizure	2/5	OMIM:613706
673	BRAF	HP:0001250	Seizure	9/17	OMIM:115150
673	BRAF	HP:0001252	Hypotonia	HP:0040282	ORPHA:648
673	BRAF	HP:0001252	Hypotonia	-	OMIM:613706
673	BRAF	HP:0001252	Hypotonia	13/17	OMIM:115150
673	BRAF	HP:0001252	Hypotonia	HP:0040281	ORPHA:1340
673	BRAF	HP:0001252	Hypotonia	2/7	OMIM:615777
673	BRAF	HP:0001251	Ataxia	HP:0040283	ORPHA:389
673	BRAF	HP:0001249	Intellectual disability	HP:0040284	ORPHA:54595
673	BRAF	HP:0001249	Intellectual disability	HP:0040283	ORPHA:648
673	BRAF	HP:0001249	Intellectual disability	1/1	OMIM:613707
673	BRAF	HP:0001249	Intellectual disability	5/5	OMIM:613706
673	BRAF	HP:0001249	Intellectual disability	15/16	OMIM:115150
673	BRAF	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1340
673	BRAF	HP:0001249	Intellectual disability	5/7	OMIM:615777
673	BRAF	HP:0001249	Intellectual disability	4/17	OMIM:163950
673	BRAF	HP:0001260	Dysarthria	HP:0040283	ORPHA:389
673	BRAF	HP:0001260	Dysarthria	HP:0040281	ORPHA:648
673	BRAF	HP:0001260	Dysarthria	HP:0040283	ORPHA:1340
673	BRAF	HP:0002591	Polyphagia	HP:0040283	ORPHA:54595
673	BRAF	HP:0001263	Global developmental delay	HP:0040284	ORPHA:54595
673	BRAF	HP:0001263	Global developmental delay	HP:0040283	ORPHA:500
673	BRAF	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1340
673	BRAF	HP:0001263	Global developmental delay	-	OMIM:615777
673	BRAF	HP:0001262	Excessive daytime somnolence	HP:0040282	ORPHA:54595
673	BRAF	HP:0001259	Coma	HP:0040284	ORPHA:54595
673	BRAF	HP:0007440	Generalized hyperpigmentation	HP:0040282	ORPHA:1340
673	BRAF	HP:0007429	Few cafe-au-lait spots	1/1	OMIM:613707
673	BRAF	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:1340
673	BRAF	HP:0007392	Excessive wrinkled skin	HP:0040281	ORPHA:1340
673	BRAF	HP:0007392	Excessive wrinkled skin	HP:0040283	ORPHA:500
673	BRAF	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	-	OMIM:115150
673	BRAF	HP:0007333	Hypoplasia of the frontal lobes	-	OMIM:115150
673	BRAF	HP:0002515	Waddling gait	54/102	OMIM:131300
673	BRAF	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:626
673	BRAF	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:54595
673	BRAF	HP:0002514	Cerebral calcification	HP:0040281	ORPHA:54595
673	BRAF	HP:0025383	Dorsocervical fat pad	HP:0040282	ORPHA:96253
673	BRAF	HP:0012059	Lentigo maligna melanoma	3/5	OMIM:613706
673	BRAF	HP:0001399	Hepatic failure	HP:0040284	ORPHA:389
673	BRAF	HP:0012056	Cutaneous melanoma	-	OMIM:155600
673	BRAF	HP:0012056	Cutaneous melanoma	HP:0040283	ORPHA:626
673	BRAF	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:648
673	BRAF	HP:0000078	Abnormality of the genital system	HP:0040281	ORPHA:500
673	BRAF	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:54595
673	BRAF	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:648
673	BRAF	HP:0012030	Increased urinary cortisol level	HP:0040281	ORPHA:96253
673	BRAF	HP:0001382	Joint hypermobility	3/5	OMIM:613706
673	BRAF	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:648
673	BRAF	HP:0001382	Joint hypermobility	-	OMIM:615777
673	BRAF	HP:0000047	Hypospadias	HP:0040283	ORPHA:500
673	BRAF	HP:0000047	Hypospadias	1/8	OMIM:163950
673	BRAF	HP:0002694	Sclerosis of skull base	-	OMIM:131300
673	BRAF	HP:0002690	Large sella turcica	HP:0040283	ORPHA:96253
673	BRAF	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:500
673	BRAF	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:626
673	BRAF	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:648
673	BRAF	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1340
673	BRAF	HP:0000028	Cryptorchidism	27/32	OMIM:163950
673	BRAF	HP:0007565	Multiple cafe-au-lait spots	HP:0040282	ORPHA:1340
673	BRAF	HP:0008897	Postnatal growth retardation	HP:0040284	ORPHA:54595
673	BRAF	HP:0008897	Postnatal growth retardation	-	OMIM:615777
673	BRAF	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:648
673	BRAF	HP:0008897	Postnatal growth retardation	-	OMIM:163950
673	BRAF	HP:0008872	Feeding difficulties in infancy	-	OMIM:115150
673	BRAF	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:1340
673	BRAF	HP:0008872	Feeding difficulties in infancy	-	OMIM:613706
673	BRAF	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:648
673	BRAF	HP:0008872	Feeding difficulties in infancy	35/56	OMIM:163950
673	BRAF	HP:0006191	Deep palmar crease	6/16	OMIM:115150
673	BRAF	HP:0006191	Deep palmar crease	HP:0040282	ORPHA:1340
673	BRAF	HP:0006191	Deep palmar crease	1/5	OMIM:613706
673	BRAF	HP:0031162	Impaired oropharyngeal swallow response	4/5	OMIM:613706
673	BRAF	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:648
673	BRAF	HP:0001328	Specific learning disability	HP:0040283	ORPHA:648
673	BRAF	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:54595
673	BRAF	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
673	BRAF	HP:0001324	Muscle weakness	HP:0040282	ORPHA:96253
673	BRAF	HP:0001324	Muscle weakness	HP:0040281	ORPHA:648
673	BRAF	HP:0001324	Muscle weakness	40/96	OMIM:131300
673	BRAF	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
673	BRAF	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
673	BRAF	HP:0000006	Autosomal dominant inheritance	-	OMIM:115150
673	BRAF	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
673	BRAF	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
673	BRAF	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
673	BRAF	HP:0000006	Autosomal dominant inheritance	-	OMIM:211980
673	BRAF	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
673	BRAF	HP:0000006	Autosomal dominant inheritance	-	OMIM:613707
673	BRAF	HP:0000006	Autosomal dominant inheritance	-	OMIM:613706
673	BRAF	HP:0000006	Autosomal dominant inheritance	-	OMIM:155600
673	BRAF	HP:0000006	Autosomal dominant inheritance	-	OMIM:163950
673	BRAF	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:54595
673	BRAF	HP:0002653	Bone pain	HP:0040281	ORPHA:389
673	BRAF	HP:0002650	Scoliosis	HP:0040283	ORPHA:500
673	BRAF	HP:0002650	Scoliosis	5/5	OMIM:613706
673	BRAF	HP:0002650	Scoliosis	4/17	OMIM:115150
673	BRAF	HP:0002650	Scoliosis	HP:0040282	ORPHA:648
673	BRAF	HP:0002650	Scoliosis	12/14	OMIM:131300
673	BRAF	HP:0002650	Scoliosis	HP:0040282	ORPHA:1340
673	BRAF	HP:0001319	Neonatal hypotonia	1/1	OMIM:613707
673	BRAF	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
673	BRAF	HP:0002619	Varicose veins	-	OMIM:153400
673	BRAF	HP:0002617	Vascular dilatation	HP:0040283	ORPHA:500
673	BRAF	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
673	BRAF	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
673	BRAF	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:648
673	BRAF	HP:0000194	Open mouth	-	OMIM:115150
673	BRAF	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
673	BRAF	HP:0000164	Abnormality of the dentition	-	OMIM:115150
673	BRAF	HP:0000176	Submucous cleft hard palate	-	OMIM:115150
673	BRAF	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:1340
673	BRAF	HP:0000175	Cleft palate	5/39	OMIM:153400
673	BRAF	HP:0000175	Cleft palate	2/7	OMIM:615777
673	BRAF	HP:0000175	Cleft palate	1/18	OMIM:163950
673	BRAF	HP:0000144	Decreased fertility	HP:0040282	ORPHA:500
673	BRAF	HP:0000141	Amenorrhea	HP:0040282	ORPHA:96253
673	BRAF	HP:0000135	Hypogonadism	HP:0040282	ORPHA:54595
673	BRAF	HP:0000135	Hypogonadism	HP:0040283	OMIM:163950
673	BRAF	HP:0002797	Osteolysis	HP:0040281	ORPHA:389
673	BRAF	HP:0000155	Oral ulcer	HP:0040283	ORPHA:389
673	BRAF	HP:0001480	Freckling	HP:0040281	ORPHA:500
673	BRAF	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:626
673	BRAF	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:500
673	BRAF	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:840
673	BRAF	HP:0031284	Flushing	HP:0040283	ORPHA:96253
673	BRAF	HP:0002705	High, narrow palate	-	OMIM:163950
673	BRAF	HP:0500011	Moon facies	HP:0040282	ORPHA:96253
673	BRAF	HP:0000126	Hydronephrosis	-	OMIM:115150
673	BRAF	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1340
673	BRAF	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
673	BRAF	HP:0001442	Typified by somatic mosaicism	-	OMIM:211980
673	BRAF	HP:0002751	Kyphoscoliosis	-	OMIM:163950
673	BRAF	HP:0002750	Delayed skeletal maturation	1/1	OMIM:613707
673	BRAF	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:648
673	BRAF	HP:0002750	Delayed skeletal maturation	-	OMIM:115150
673	BRAF	HP:0002719	Recurrent infections	HP:0040284	ORPHA:54595
673	BRAF	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:389
673	BRAF	HP:0002721	Immunodeficiency	HP:0040282	ORPHA:96253
673	BRAF	HP:0002020	Gastroesophageal reflux	-	OMIM:115150
673	BRAF	HP:0002019	Constipation	-	OMIM:115150
673	BRAF	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:54595
673	BRAF	HP:0002033	Poor suck	4/5	OMIM:613706
673	BRAF	HP:0002031	Abnormal esophagus morphology	2/5	OMIM:613706
673	BRAF	HP:0002002	Deep philtrum	-	OMIM:115150
673	BRAF	HP:0030991	Sclerosing cholangitis	HP:0040284	ORPHA:389
673	BRAF	HP:0002015	Dysphagia	-	OMIM:613706
673	BRAF	HP:0002013	Vomiting	-	OMIM:115150
673	BRAF	HP:0002007	Frontal bossing	HP:0040282	ORPHA:1340
673	BRAF	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:54595
673	BRAF	HP:0011800	Midface retrusion	HP:0040281	ORPHA:648
673	BRAF	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:500
673	BRAF	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:96253
673	BRAF	HP:0100543	Cognitive impairment	-	OMIM:613706
673	BRAF	HP:0002093	Respiratory insufficiency	HP:0040284	ORPHA:389
673	BRAF	HP:0030939	Palpebral thickening	13/17	OMIM:115150
673	BRAF	HP:0030939	Palpebral thickening	1/1	OMIM:613707
673	BRAF	HP:0030939	Palpebral thickening	2/5	OMIM:613706
673	BRAF	HP:0003388	Easy fatigability	36/76	OMIM:131300
673	BRAF	HP:0009466	Radial deviation of finger	-	OMIM:163950
673	BRAF	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
673	BRAF	HP:0008113	Multiple plantar creases	-	OMIM:115150
673	BRAF	HP:0011750	Neoplasm of the anterior pituitary	HP:0040281	ORPHA:54595
673	BRAF	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:54595
673	BRAF	HP:0011710	Bundle branch block	HP:0040281	ORPHA:500
673	BRAF	HP:0040270	Impaired glucose tolerance	HP:0040282	ORPHA:96253
673	BRAF	HP:0003477	Peripheral axonal neuropathy	HP:0040283	OMIM:115150
673	BRAF	HP:0002120	Cerebral cortical atrophy	-	OMIM:115150
673	BRAF	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:1340
673	BRAF	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0040281	ORPHA:96253
673	BRAF	HP:0002108	Spontaneous pneumothorax	HP:0040283	ORPHA:389
673	BRAF	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1340
673	BRAF	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:648
673	BRAF	HP:0002162	Low posterior hairline	7/16	OMIM:115150
673	BRAF	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:1340
673	BRAF	HP:0002162	Low posterior hairline	1/1	OMIM:613707
673	BRAF	HP:0002162	Low posterior hairline	2/5	OMIM:613706
673	BRAF	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:648
673	BRAF	HP:0002162	Low posterior hairline	86/138	OMIM:163950
673	BRAF	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:626
673	BRAF	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:54595
673	BRAF	HP:0011869	Abnormal platelet function	HP:0040282	ORPHA:648
673	BRAF	HP:0010535	Sleep apnea	HP:0040283	ORPHA:54595
673	BRAF	HP:0008221	Adrenal hyperplasia	HP:0040282	ORPHA:96253
673	BRAF	HP:0008291	Pituitary corticotropic cell adenoma	HP:0040281	ORPHA:96253
673	BRAF	HP:0010576	Intracranial cystic lesion	HP:0040281	ORPHA:54595
673	BRAF	HP:0003577	Congenital onset	27/27	OMIM:115150
673	BRAF	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:389
673	BRAF	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:648
673	BRAF	HP:0100703	Tongue thrusting	-	OMIM:115150
673	BRAF	HP:0100704	Cerebral visual impairment	2/17	OMIM:115150
673	BRAF	HP:0002223	Absent eyebrow	14/17	OMIM:115150
673	BRAF	HP:0002224	Woolly hair	9/107	OMIM:163950
673	BRAF	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
673	BRAF	HP:0200102	Sparse or absent eyelashes	HP:0040282	ORPHA:1340
673	BRAF	HP:0002217	Slow-growing hair	-	OMIM:115150
673	BRAF	HP:0002217	Slow-growing hair	HP:0040282	ORPHA:1340
673	BRAF	HP:0004859	Amegakaryocytic thrombocytopenia	-	OMIM:163950
673	BRAF	HP:0002212	Curly hair	11/17	OMIM:115150
673	BRAF	HP:0002212	Curly hair	2/2	OMIM:613707
673	BRAF	HP:0002212	Curly hair	1/5	OMIM:613706
673	BRAF	HP:0002213	Fine hair	HP:0040281	ORPHA:1340
673	BRAF	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:96253
673	BRAF	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:840
673	BRAF	HP:0002208	Coarse hair	HP:0040282	ORPHA:648
673	BRAF	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:648
673	BRAF	HP:0100769	Synovitis	-	OMIM:163950
673	BRAF	HP:0009743	Distichiasis	42/42	OMIM:153400
673	BRAF	HP:0009748	Large earlobe	12/17	OMIM:115150
673	BRAF	HP:0009748	Large earlobe	2/5	OMIM:613706
673	BRAF	HP:0002299	Brittle hair	HP:0040281	ORPHA:1340
673	BRAF	HP:0011999	Paranoia	HP:0040284	ORPHA:96253
673	BRAF	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:1340
673	BRAF	HP:0008357	Reduced factor XIII activity	-	OMIM:163950
673	BRAF	HP:0003510	Severe short stature	7/7	OMIM:615777
673	BRAF	HP:0004841	Reduced factor XII activity	-	OMIM:163950
673	BRAF	HP:0430000	Abnormal frontal bone morphology	HP:0040284	ORPHA:54595
673	BRAF	HP:0003508	Proportionate short stature	HP:0040283	ORPHA:54595
673	BRAF	HP:0008391	Dystrophic fingernails	HP:0040282	ORPHA:1340
673	BRAF	HP:0001058	Poor wound healing	HP:0040282	ORPHA:96253
673	BRAF	HP:0001058	Poor wound healing	HP:0040282	ORPHA:626
673	BRAF	HP:0001054	Numerous nevi	-	OMIM:155600
673	BRAF	HP:0001054	Numerous nevi	4/17	OMIM:115150
673	BRAF	HP:0001054	Numerous nevi	2/2	OMIM:613707
673	BRAF	HP:0001054	Numerous nevi	2/5	OMIM:613706
673	BRAF	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:626
673	BRAF	HP:0001050	Plethora	HP:0040282	ORPHA:96253
673	BRAF	HP:0025017	Capillary fragility	HP:0040282	ORPHA:96253
673	BRAF	HP:0001048	Cavernous hemangioma	-	OMIM:115150
673	BRAF	HP:0001048	Cavernous hemangioma	HP:0040282	ORPHA:1340
673	BRAF	HP:0001062	Atypical nevus	-	OMIM:155600
673	BRAF	HP:0001065	Striae distensae	HP:0040282	ORPHA:96253
673	BRAF	HP:0001061	Acne	HP:0040282	ORPHA:96253
673	BRAF	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:54595
673	BRAF	HP:0003691	Scapular winging	HP:0040282	ORPHA:500
673	BRAF	HP:0001047	Atopic dermatitis	-	OMIM:115150
673	BRAF	HP:0001004	Lymphedema	HP:0040283	ORPHA:1340
673	BRAF	HP:0001004	Lymphedema	HP:0040283	ORPHA:648
673	BRAF	HP:0001004	Lymphedema	-	OMIM:153400
673	BRAF	HP:0001004	Lymphedema	-	OMIM:163950
673	BRAF	HP:0001007	Hirsutism	HP:0040282	ORPHA:96253
673	BRAF	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1340
673	BRAF	HP:0002354	Memory impairment	HP:0040283	ORPHA:96253
673	BRAF	HP:0002321	Vertigo	HP:0040284	ORPHA:54595
673	BRAF	HP:0002315	Headache	-	OMIM:131300
673	BRAF	HP:0002315	Headache	HP:0040282	ORPHA:54595
673	BRAF	HP:0002315	Headache	HP:0040283	ORPHA:96253
673	BRAF	HP:0002315	Headache	HP:0040283	ORPHA:626
673	BRAF	HP:0004976	Knee dislocation	6/7	OMIM:615777
673	BRAF	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:626
673	BRAF	HP:0001003	Multiple lentigines	5/17	OMIM:115150
673	BRAF	HP:0001003	Multiple lentigines	HP:0040282	ORPHA:1340
673	BRAF	HP:0001003	Multiple lentigines	2/2	OMIM:613707
673	BRAF	HP:0001003	Multiple lentigines	HP:0040281	ORPHA:500
673	BRAF	HP:0100658	Cellulitis	2/6	OMIM:153400
673	BRAF	HP:0200034	Papule	HP:0040281	ORPHA:840
673	BRAF	HP:0010815	Nevus sebaceous	HP:0040283	ORPHA:840
673	BRAF	HP:0010807	Open bite	-	OMIM:115150
673	BRAF	HP:0001093	Optic nerve dysplasia	-	OMIM:115150
673	BRAF	HP:0001074	Atypical nevi in non-sun exposed areas	-	OMIM:155600
673	BRAF	HP:0100625	Enlarged thorax	HP:0040281	ORPHA:648
673	BRAF	HP:0009803	Short phalanx of finger	-	OMIM:615777
673	BRAF	HP:0200042	Skin ulcer	HP:0040283	ORPHA:96253
673	BRAF	HP:0001085	Papilledema	HP:0040282	ORPHA:54595
673	BRAF	HP:0032152	Keratosis pilaris	7/13	OMIM:115150
673	BRAF	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:96253
673	BRAF	HP:0100697	Neurofibrosarcoma	-	OMIM:163950
673	BRAF	HP:0010741	Pedal edema	HP:0040284	ORPHA:96253
673	BRAF	HP:0009763	Limb pain	63/92	OMIM:131300
673	BRAF	HP:0003623	Neonatal onset	-	OMIM:613707
673	BRAF	HP:0003621	Juvenile onset	-	OMIM:131300
673	BRAF	HP:0004912	Hypophosphatemic rickets	HP:0040284	ORPHA:626
673	BRAF	HP:0034769	Pulmonary Langerhans cell histiocytosis	HP:0040283	ORPHA:389
673	BRAF	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
673	BRAF	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:648
673	BRAF	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:115150
673	BRAF	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
673	BRAF	HP:0031845	Abnormal libido	HP:0040283	ORPHA:96253
673	BRAF	HP:0030521	Bitemporal hemianopia	HP:0040282	ORPHA:54595
673	BRAF	HP:0031891	Decreased total eosinophil count	HP:0040282	ORPHA:96253
673	BRAF	HP:0005584	Renal cell carcinoma	-	OMIM:114500
673	BRAF	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
673	BRAF	HP:0000639	Nystagmus	5/17	OMIM:115150
673	BRAF	HP:0000639	Nystagmus	HP:0040283	ORPHA:648
673	BRAF	HP:0000639	Nystagmus	HP:0040282	ORPHA:1340
673	BRAF	HP:0000635	Blue irides	HP:0040282	ORPHA:648
673	BRAF	HP:0000637	Long palpebral fissure	HP:0040281	ORPHA:1340
673	BRAF	HP:6001056	Out-toeing	-	OMIM:131300
673	BRAF	HP:0000651	Diplopia	-	OMIM:131300
673	BRAF	HP:0000648	Optic atrophy	HP:0040283	ORPHA:54595
673	BRAF	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1340
673	BRAF	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:96253
673	BRAF	HP:0000613	Photophobia	10/49	OMIM:153400
673	BRAF	HP:0001945	Fever	HP:0040282	ORPHA:389
673	BRAF	HP:0001956	Truncal obesity	HP:0040282	ORPHA:96253
673	BRAF	HP:0001956	Truncal obesity	2/7	OMIM:615777
673	BRAF	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:648
673	BRAF	HP:0001903	Anemia	HP:0040283	OMIM:131300
673	BRAF	HP:0010049	Short metacarpal	-	OMIM:615777
673	BRAF	HP:0011381	Aplasia of the semicircular canal	HP:0040283	ORPHA:648
673	BRAF	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
673	BRAF	HP:0011370	Recurrent cutaneous fungal infections	HP:0040283	ORPHA:96253
673	BRAF	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:648
673	BRAF	HP:0000678	Dental crowding	-	OMIM:615777
673	BRAF	HP:0000689	Dental malocclusion	-	OMIM:115150
673	BRAF	HP:0000689	Dental malocclusion	-	OMIM:163950
673	BRAF	HP:0000657	Oculomotor apraxia	-	OMIM:115150
673	BRAF	HP:0000656	Ectropion	2/43	OMIM:153400
673	BRAF	HP:0000670	Carious teeth	-	OMIM:131300
673	BRAF	HP:0011304	Broad thumb	2/7	OMIM:615777
673	BRAF	HP:0000668	Hypodontia	-	OMIM:615777
673	BRAF	HP:0000664	Synophrys	-	OMIM:615777
673	BRAF	HP:0004324	Increased body weight	HP:0040282	ORPHA:96253
673	BRAF	HP:0004322	Short stature	HP:0040281	ORPHA:648
673	BRAF	HP:0004322	Short stature	HP:0040282	ORPHA:500
673	BRAF	HP:0004322	Short stature	1/1	OMIM:613707
673	BRAF	HP:0004322	Short stature	5/5	OMIM:613706
673	BRAF	HP:0004322	Short stature	9/17	OMIM:115150
673	BRAF	HP:0004322	Short stature	HP:0040281	ORPHA:1340
673	BRAF	HP:0004322	Short stature	43/107	OMIM:163950
673	BRAF	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:500
673	BRAF	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:1340
673	BRAF	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:500
673	BRAF	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:648
673	BRAF	HP:0005600	Congenital giant melanocytic nevus	HP:0040281	ORPHA:626
673	BRAF	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:389
673	BRAF	HP:0004396	Poor appetite	-	OMIM:131300
673	BRAF	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
673	BRAF	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
673	BRAF	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
673	BRAF	HP:0003011	Abnormality of the musculature	-	OMIM:153400
673	BRAF	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:500
673	BRAF	HP:0003026	Short long bone	7/7	OMIM:615777
673	BRAF	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
673	BRAF	HP:0012743	Abdominal obesity	HP:0040282	ORPHA:96253
673	BRAF	HP:0012735	Cough	HP:0040282	ORPHA:389
673	BRAF	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:500
673	BRAF	HP:0000767	Pectus excavatum	2/5	OMIM:613706
673	BRAF	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:648
673	BRAF	HP:0000767	Pectus excavatum	-	OMIM:115150
673	BRAF	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:1340
673	BRAF	HP:0000767	Pectus excavatum	2/7	OMIM:615777
673	BRAF	HP:0000766	Abnormal sternum morphology	3/18	OMIM:163950
673	BRAF	HP:0000768	Pectus carinatum	-	OMIM:115150
673	BRAF	HP:0000768	Pectus carinatum	1/7	OMIM:615777
673	BRAF	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:500
673	BRAF	HP:0000768	Pectus carinatum	-	OMIM:613706
673	BRAF	HP:0000768	Pectus carinatum	HP:0040281	ORPHA:648
673	BRAF	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
673	BRAF	HP:0000750	Delayed speech and language development	-	OMIM:615777
673	BRAF	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040283	ORPHA:1340
673	BRAF	HP:0000716	Depression	HP:0040283	ORPHA:96253
673	BRAF	HP:0000712	Emotional lability	HP:0040282	ORPHA:96253
673	BRAF	HP:0000726	Dementia	HP:0040284	ORPHA:96253
673	BRAF	HP:0000725	Psychotic episodes	HP:0040283	ORPHA:96253
673	BRAF	HP:0000709	Psychosis	HP:0040284	ORPHA:96253
673	BRAF	HP:0000708	Atypical behavior	HP:0040284	ORPHA:54595
673	BRAF	HP:0000708	Atypical behavior	HP:0040282	ORPHA:96253
673	BRAF	HP:0000708	Atypical behavior	HP:0040283	ORPHA:626
673	BRAF	HP:0030588	Abnormal visual field test	HP:0040282	ORPHA:54595
673	BRAF	HP:0011471	Gastrostomy tube feeding in infancy	10/17	OMIM:115150
673	BRAF	HP:0011470	Nasogastric tube feeding in infancy	2/5	OMIM:613706
673	BRAF	HP:0011461	Fetal onset	7/7	OMIM:615777
673	BRAF	HP:0000774	Narrow chest	2/7	OMIM:615777
673	BRAF	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:626
673	BRAF	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:648
673	BRAF	HP:0003115	Abnormal EKG	HP:0040281	ORPHA:648
673	BRAF	HP:0003118	Increased circulating cortisol level	HP:0040281	ORPHA:96253
673	BRAF	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:1340
673	BRAF	HP:0004415	Pulmonary artery stenosis	HP:0040281	ORPHA:648
673	BRAF	HP:0004414	Abnormality of the pulmonary artery	HP:0040281	ORPHA:500
673	BRAF	HP:0003196	Short nose	-	OMIM:115150
673	BRAF	HP:0003196	Short nose	HP:0040282	ORPHA:1340
673	BRAF	HP:0000917	Superior pectus carinatum	-	OMIM:163950
673	BRAF	HP:0000914	Shield chest	14/17	OMIM:115150
673	BRAF	HP:0000914	Shield chest	1/1	OMIM:613707
673	BRAF	HP:0000914	Shield chest	3/5	OMIM:613706
673	BRAF	HP:0000914	Shield chest	-	OMIM:163950
673	BRAF	HP:0000915	Pectus excavatum of inferior sternum	-	OMIM:163950
673	BRAF	HP:0000912	Sprengel anomaly	HP:0040282	ORPHA:500
673	BRAF	HP:0000926	Platyspondyly	1/7	OMIM:615777
673	BRAF	HP:0003180	Flat acetabular roof	-	OMIM:615777
673	BRAF	HP:0003154	Increased circulating ACTH level	HP:0040282	ORPHA:96253
673	BRAF	HP:0004482	Relative macrocephaly	-	OMIM:115150
673	BRAF	HP:0004482	Relative macrocephaly	-	OMIM:615777
673	BRAF	HP:0004467	Preauricular pit	-	OMIM:187500
673	BRAF	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
673	BRAF	HP:0000876	Oligomenorrhea	HP:0040283	ORPHA:96253
673	BRAF	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:389
673	BRAF	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:54595
673	BRAF	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:96253
673	BRAF	HP:0000863	Central diabetes insipidus	HP:0040282	ORPHA:54595
673	BRAF	HP:0012804	Corneal ulceration	-	OMIM:153400
673	BRAF	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:96253
673	BRAF	HP:0000822	Hypertension	HP:0040282	ORPHA:96253
673	BRAF	HP:0000823	Delayed puberty	-	OMIM:131300
673	BRAF	HP:0000823	Delayed puberty	HP:0040283	ORPHA:54595
673	BRAF	HP:0010284	Intra-oral hyperpigmentation	HP:0040282	ORPHA:96253
673	BRAF	HP:0040075	Hypopituitarism	HP:0040281	ORPHA:54595
673	BRAF	HP:0040071	Abnormal morphology of ulna	HP:0040282	ORPHA:1340
673	BRAF	HP:0000894	Short clavicles	-	OMIM:615777
673	BRAF	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
673	BRAF	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:500
673	BRAF	HP:0003251	Male infertility	-	OMIM:163950
673	BRAF	HP:0003249	Genital ulcers	HP:0040283	ORPHA:389
673	BRAF	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:626
673	BRAF	HP:0000995	Melanocytic nevus	HP:0040281	ORPHA:500
673	BRAF	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:648
673	BRAF	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:648
673	BRAF	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040283	ORPHA:500
673	BRAF	HP:0010310	Chylothorax	1/6	OMIM:153400
673	BRAF	HP:0010310	Chylothorax	1/18	OMIM:163950
673	BRAF	HP:0010314	Premature thelarche	HP:0040284	ORPHA:626
673	BRAF	HP:0000979	Purpura	HP:0040283	ORPHA:96253
673	BRAF	HP:0000975	Hyperhidrosis	9/11	OMIM:115150
673	BRAF	HP:0000975	Hyperhidrosis	1/5	OMIM:613706
673	BRAF	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:96253
673	BRAF	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:648
673	BRAF	HP:0000978	Bruising susceptibility	32/56	OMIM:163950
673	BRAF	HP:0000974	Hyperextensible skin	HP:0040282	ORPHA:1340
673	BRAF	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:500
673	BRAF	HP:0034323	Reduced circulating growth hormone concentration	HP:0040283	ORPHA:389
673	BRAF	HP:0000989	Pruritus	HP:0040283	ORPHA:626
673	BRAF	HP:0000988	Skin rash	HP:0040282	ORPHA:389
673	BRAF	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:1340
673	BRAF	HP:0000958	Dry skin	HP:0040281	ORPHA:1340
673	BRAF	HP:0000958	Dry skin	HP:0040282	ORPHA:626
673	BRAF	HP:0000958	Dry skin	1/1	OMIM:613707
673	BRAF	HP:0000958	Dry skin	5/107	OMIM:163950
673	BRAF	HP:0000957	Cafe-au-lait spot	10/107	OMIM:163950
673	BRAF	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
673	BRAF	HP:0000953	Hyperpigmentation of the skin	6/17	OMIM:115150
673	BRAF	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:96253
673	BRAF	HP:0000970	Anhidrosis	HP:0040282	ORPHA:626
673	BRAF	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:389
673	BRAF	HP:0000963	Thin skin	HP:0040282	ORPHA:96253
673	BRAF	HP:0000962	Hyperkeratosis	7/17	OMIM:115150
673	BRAF	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:1340
673	BRAF	HP:0000962	Hyperkeratosis	2/2	OMIM:613707
673	BRAF	HP:0000939	Osteoporosis	HP:0040282	ORPHA:96253
673	BRAF	HP:0000938	Osteopenia	-	OMIM:115150
673	BRAF	HP:0000938	Osteopenia	HP:0040283	ORPHA:648
673	BRAF	HP:0008070	Sparse hair	10/17	OMIM:115150
673	BRAF	HP:0008070	Sparse hair	HP:0040282	ORPHA:1340
673	BRAF	HP:0008064	Ichthyosis	-	OMIM:115150
673	BRAF	HP:0008064	Ichthyosis	HP:0040282	ORPHA:1340
673	BRAF	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:840
673	BRAF	HP:0011675	Arrhythmia	-	OMIM:153400
673	BRAF	HP:0011675	Arrhythmia	HP:0040281	ORPHA:500
673	BRAF	HP:0011675	Arrhythmia	HP:0040282	ORPHA:648
673	BRAF	HP:0007716	Uveal melanoma	-	OMIM:155600
673	BRAF	HP:0012286	Abnormal hypothalamus morphology	HP:0040280	ORPHA:54595
673	BRAF	HP:0000286	Epicanthus	0/5	OMIM:613706
673	BRAF	HP:0000286	Epicanthus	11/17	OMIM:115150
673	BRAF	HP:0000286	Epicanthus	HP:0040282	ORPHA:1340
673	BRAF	HP:0000286	Epicanthus	1/7	OMIM:615777
673	BRAF	HP:0000286	Epicanthus	15/28	OMIM:163950
673	BRAF	HP:0000280	Coarse facial features	-	OMIM:115150
673	BRAF	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1340
673	BRAF	HP:0000280	Coarse facial features	2/7	OMIM:615777
673	BRAF	HP:0000293	Full cheeks	HP:0040281	ORPHA:1340
673	BRAF	HP:0000256	Macrocephaly	1/1	OMIM:613707
673	BRAF	HP:0000256	Macrocephaly	5/5	OMIM:613706
673	BRAF	HP:0000256	Macrocephaly	5/17	OMIM:115150
673	BRAF	HP:0000256	Macrocephaly	HP:0040282	ORPHA:1340
673	BRAF	HP:0000276	Long face	HP:0040281	ORPHA:1340
673	BRAF	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:500
673	BRAF	HP:0000268	Dolichocephaly	5/17	OMIM:115150
673	BRAF	HP:0000268	Dolichocephaly	1/1	OMIM:613707
673	BRAF	HP:0000268	Dolichocephaly	-	OMIM:613706
673	BRAF	HP:0002827	Hip dislocation	3/7	OMIM:615777
673	BRAF	HP:0030078	Lung adenocarcinoma	-	OMIM:211980
673	BRAF	HP:0030084	Clinodactyly	-	OMIM:163950
673	BRAF	HP:0002808	Kyphosis	2/5	OMIM:153400
673	BRAF	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:54595
673	BRAF	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:626
673	BRAF	HP:0000238	Hydrocephalus	-	OMIM:115150
673	BRAF	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:1340
673	BRAF	HP:0000252	Microcephaly	-	OMIM:615777
673	BRAF	HP:0001582	Redundant skin	HP:0040283	ORPHA:1340
673	BRAF	HP:0000248	Brachycephaly	HP:0040283	ORPHA:500
673	BRAF	HP:0012209	Juvenile myelomonocytic leukemia	HP:0040283	ORPHA:648
673	BRAF	HP:0012209	Juvenile myelomonocytic leukemia	2/18	OMIM:163950
673	BRAF	HP:0000218	High palate	-	OMIM:115150
673	BRAF	HP:0000218	High palate	HP:0040281	ORPHA:648
673	BRAF	HP:0000218	High palate	HP:0040282	ORPHA:1340
673	BRAF	HP:0000218	High palate	-	OMIM:163950
673	BRAF	HP:0001561	Polyhydramnios	-	OMIM:115150
673	BRAF	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
673	BRAF	HP:0002861	Melanoma	HP:0040283	ORPHA:500
673	BRAF	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:1340
673	BRAF	HP:0001531	Failure to thrive in infancy	-	OMIM:163950
673	BRAF	HP:0002857	Genu valgum	-	OMIM:131300
673	BRAF	HP:0002857	Genu valgum	HP:0040283	ORPHA:1340
673	BRAF	HP:0001533	Slender build	-	OMIM:131300
673	BRAF	HP:0000204	Cleft upper lip	-	OMIM:153400
673	BRAF	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:500
673	BRAF	HP:0031364	Ecchymosis	HP:0040283	ORPHA:96253
673	BRAF	HP:0001508	Failure to thrive	14/17	OMIM:115150
673	BRAF	HP:0001520	Large for gestational age	2/4	OMIM:613706
673	BRAF	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:500
673	BRAF	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
673	BRAF	HP:0001510	Growth delay	HP:0040283	ORPHA:389
673	BRAF	HP:0001510	Growth delay	HP:0040283	ORPHA:54595
673	BRAF	HP:0001510	Growth delay	HP:0040281	ORPHA:500
673	BRAF	HP:0001510	Growth delay	1/1	OMIM:613707
673	BRAF	HP:0001510	Growth delay	5/5	OMIM:613706
673	BRAF	HP:0001513	Obesity	HP:0040282	ORPHA:54595
673	BRAF	HP:0007807	Optic nerve compression	HP:0040284	ORPHA:96253
673	BRAF	HP:0007807	Optic nerve compression	-	OMIM:131300
673	BRAF	HP:0012368	Flat face	7/7	OMIM:615777
673	BRAF	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040282	ORPHA:96253
673	BRAF	HP:0000391	Thickened helices	HP:0040281	ORPHA:1340
673	BRAF	HP:0000391	Thickened helices	HP:0040281	ORPHA:648
673	BRAF	HP:0000391	Thickened helices	4/5	OMIM:613706
673	BRAF	HP:0006519	Alveolar cell carcinoma	-	OMIM:211980
673	BRAF	HP:0001608	Abnormality of the voice	HP:0040283	ORPHA:500
673	BRAF	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
673	BRAF	HP:0000365	Hearing impairment	HP:0040283	ORPHA:389
673	BRAF	HP:0000365	Hearing impairment	HP:0040283	ORPHA:54595
673	BRAF	HP:0000365	Hearing impairment	3/15	OMIM:115150
673	BRAF	HP:0000365	Hearing impairment	10/67	OMIM:131300
673	BRAF	HP:0000365	Hearing impairment	2/17	OMIM:163950
673	BRAF	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:1340
673	BRAF	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:500
673	BRAF	HP:0000358	Posteriorly rotated ears	1/1	OMIM:613707
673	BRAF	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:648
673	BRAF	HP:0000358	Posteriorly rotated ears	-	OMIM:115150
673	BRAF	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1340
673	BRAF	HP:0000369	Low-set ears	2/2	OMIM:613707
673	BRAF	HP:0000369	Low-set ears	4/5	OMIM:613706
673	BRAF	HP:0000369	Low-set ears	16/17	OMIM:115150
673	BRAF	HP:0000369	Low-set ears	96/137	OMIM:163950
673	BRAF	HP:0000341	Narrow forehead	23/27	OMIM:115150
673	BRAF	HP:0000341	Narrow forehead	1/1	OMIM:613707
673	BRAF	HP:0000341	Narrow forehead	3/5	OMIM:613706
673	BRAF	HP:0000343	Long philtrum	HP:0040282	ORPHA:1340
673	BRAF	HP:0000343	Long philtrum	1/7	OMIM:615777
673	BRAF	HP:0011001	Increased bone mineral density	-	OMIM:131300
673	BRAF	HP:0000337	Broad forehead	-	OMIM:187500
673	BRAF	HP:0000337	Broad forehead	34/107	OMIM:163950
673	BRAF	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:648
673	BRAF	HP:0001680	Coarctation of aorta	-	OMIM:163950
673	BRAF	HP:0000348	High forehead	HP:0040282	ORPHA:1340
673	BRAF	HP:0000348	High forehead	HP:0040281	ORPHA:648
673	BRAF	HP:0000347	Micrognathia	-	OMIM:115150
673	BRAF	HP:0000347	Micrognathia	2/5	OMIM:153400
673	BRAF	HP:0000347	Micrognathia	HP:0040281	ORPHA:648
673	BRAF	HP:0000347	Micrognathia	-	OMIM:163950
673	BRAF	HP:0000316	Hypertelorism	HP:0040281	ORPHA:500
673	BRAF	HP:0000316	Hypertelorism	2/2	OMIM:613707
673	BRAF	HP:0000316	Hypertelorism	5/5	OMIM:613706
673	BRAF	HP:0000316	Hypertelorism	12/17	OMIM:115150
673	BRAF	HP:0000316	Hypertelorism	HP:0040281	ORPHA:648
673	BRAF	HP:0000316	Hypertelorism	HP:0040282	ORPHA:1340
673	BRAF	HP:0000316	Hypertelorism	68/135	OMIM:163950
673	BRAF	HP:0001646	Abnormal aortic valve morphology	-	OMIM:613707
673	BRAF	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:648
673	BRAF	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
673	BRAF	HP:0001643	Patent ductus arteriosus	-	OMIM:163950
673	BRAF	HP:0000311	Round face	2/7	OMIM:615777
673	BRAF	HP:0001642	Pulmonic stenosis	8/17	OMIM:115150
673	BRAF	HP:0001642	Pulmonic stenosis	HP:0040281	ORPHA:1340
673	BRAF	HP:0001642	Pulmonic stenosis	HP:0040281	ORPHA:500
673	BRAF	HP:0001642	Pulmonic stenosis	3/10	OMIM:613706
673	BRAF	HP:0001642	Pulmonic stenosis	92/181	OMIM:163950
673	BRAF	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:648
673	BRAF	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:500
673	BRAF	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:96253
673	BRAF	HP:0001658	Myocardial infarction	HP:0040284	ORPHA:54595
673	BRAF	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:1340
673	BRAF	HP:0000325	Triangular face	HP:0040283	ORPHA:500
673	BRAF	HP:0000325	Triangular face	HP:0040281	ORPHA:648
673	BRAF	HP:0000325	Triangular face	-	OMIM:163950
673	BRAF	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
673	BRAF	HP:0001629	Ventricular septal defect	5/107	OMIM:163950
673	BRAF	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:96253
673	BRAF	HP:0002953	Vertebral compression fracture	HP:0040283	ORPHA:96253
673	BRAF	HP:0001622	Premature birth	-	OMIM:115150
673	BRAF	HP:0001622	Premature birth	HP:0040282	ORPHA:1340
673	BRAF	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:648
673	BRAF	HP:0001641	Abnormal pulmonary valve morphology	HP:0040281	ORPHA:500
673	BRAF	HP:0002970	Genu varum	-	OMIM:615777
673	BRAF	HP:0001639	Hypertrophic cardiomyopathy	9/17	OMIM:115150
673	BRAF	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:1340
673	BRAF	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:500
673	BRAF	HP:0001639	Hypertrophic cardiomyopathy	0/5	OMIM:613706
673	BRAF	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:648
673	BRAF	HP:0001639	Hypertrophic cardiomyopathy	13/181	OMIM:163950
673	BRAF	HP:0001636	Tetralogy of Fallot	1/2	OMIM:613707
673	BRAF	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
673	BRAF	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
673	BRAF	HP:0000306	Abnormality of the chin	2/5	OMIM:613706
673	BRAF	HP:0002967	Cubitus valgus	8/17	OMIM:115150
673	BRAF	HP:0002967	Cubitus valgus	1/1	OMIM:613707
673	BRAF	HP:0002967	Cubitus valgus	3/5	OMIM:613706
673	BRAF	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:1340
673	BRAF	HP:0002967	Cubitus valgus	13/107	OMIM:163950
673	BRAF	HP:0001631	Atrial septal defect	1/5	OMIM:613706
673	BRAF	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:648
673	BRAF	HP:0001631	Atrial septal defect	3/17	OMIM:115150
673	BRAF	HP:0001631	Atrial septal defect	HP:0040281	ORPHA:1340
673	BRAF	HP:0001631	Atrial septal defect	70/181	OMIM:163950
673	BRAF	HP:0000303	Mandibular prognathia	-	OMIM:131300
673	BRAF	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:500
673	BRAF	HP:0001633	Abnormal mitral valve morphology	HP:0040282	ORPHA:500
673	BRAF	HP:0001633	Abnormal mitral valve morphology	-	OMIM:613707
673	BRAF	HP:0006610	Wide intermamillary distance	1/1	OMIM:613707
673	BRAF	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:648
673	BRAF	HP:0006610	Wide intermamillary distance	37/107	OMIM:163950
673	BRAF	HP:0007924	Slow decrease in visual acuity	HP:0040282	ORPHA:54595
673	BRAF	HP:0000499	Abnormal eyelash morphology	HP:0040281	ORPHA:1340
673	BRAF	HP:0006695	Atrioventricular canal defect	HP:0040282	ORPHA:500
673	BRAF	HP:0007987	Progressive visual field defects	HP:0040282	ORPHA:54595
673	BRAF	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:500
673	BRAF	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:613707
673	BRAF	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:648
673	BRAF	HP:0000407	Sensorineural hearing impairment	-	OMIM:163950
673	BRAF	HP:0000400	Macrotia	HP:0040282	ORPHA:1340
673	BRAF	HP:0005280	Depressed nasal bridge	2/2	OMIM:613707
673	BRAF	HP:0005280	Depressed nasal bridge	3/5	OMIM:613706
673	BRAF	HP:0005280	Depressed nasal bridge	16/17	OMIM:115150
673	BRAF	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1340
673	BRAF	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
673	BRAF	HP:0000486	Strabismus	3/5	OMIM:613706
673	BRAF	HP:0000486	Strabismus	7/17	OMIM:115150
673	BRAF	HP:0000486	Strabismus	HP:0040282	ORPHA:648
673	BRAF	HP:0000486	Strabismus	HP:0040282	ORPHA:1340
673	BRAF	HP:0012471	Thick vermilion border	8/17	OMIM:115150
673	BRAF	HP:0012471	Thick vermilion border	2/5	OMIM:613706
673	BRAF	HP:0000476	Cystic hygroma	HP:0040281	ORPHA:648
673	BRAF	HP:0000476	Cystic hygroma	2/43	OMIM:153400
673	BRAF	HP:0000476	Cystic hygroma	-	OMIM:163950
673	BRAF	HP:0000478	Abnormality of the eye	-	OMIM:155600
673	BRAF	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:1340
673	BRAF	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
673	BRAF	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:613707
673	BRAF	HP:0000494	Downslanted palpebral fissures	3/5	OMIM:613706
673	BRAF	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:648
673	BRAF	HP:0000494	Downslanted palpebral fissures	8/17	OMIM:115150
673	BRAF	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:1340
673	BRAF	HP:0000494	Downslanted palpebral fissures	19/28	OMIM:163950
673	BRAF	HP:0000463	Anteverted nares	-	OMIM:115150
673	BRAF	HP:0000463	Anteverted nares	HP:0040281	ORPHA:1340
673	BRAF	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
673	BRAF	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:648
673	BRAF	HP:0000470	Short neck	1/1	OMIM:613707
673	BRAF	HP:0000470	Short neck	2/5	OMIM:613706
673	BRAF	HP:0000470	Short neck	11/17	OMIM:115150
673	BRAF	HP:0000470	Short neck	HP:0040282	ORPHA:1340
673	BRAF	HP:0000470	Short neck	1/7	OMIM:615777
673	BRAF	HP:0000470	Short neck	15/29	OMIM:163950
673	BRAF	HP:0000465	Webbed neck	11/17	OMIM:115150
673	BRAF	HP:0000465	Webbed neck	HP:0040282	ORPHA:1340
673	BRAF	HP:0000465	Webbed neck	HP:0040282	ORPHA:500
673	BRAF	HP:0000465	Webbed neck	1/1	OMIM:613707
673	BRAF	HP:0000465	Webbed neck	2/5	OMIM:613706
673	BRAF	HP:0000465	Webbed neck	HP:0040281	ORPHA:648
673	BRAF	HP:0000465	Webbed neck	6/43	OMIM:153400
673	BRAF	HP:0000465	Webbed neck	65/107	OMIM:163950
673	BRAF	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:96253
673	BRAF	HP:0001769	Broad foot	HP:0040283	OMIM:615777
673	BRAF	HP:0001763	Pes planus	1/7	OMIM:615777
673	BRAF	HP:0000414	Bulbous nose	-	OMIM:115150
673	BRAF	HP:0001744	Splenomegaly	HP:0040282	ORPHA:389
673	BRAF	HP:0001744	Splenomegaly	-	OMIM:115150
673	BRAF	HP:0001743	Abnormality of the spleen	HP:0040282	ORPHA:648
673	BRAF	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:500
673	BRAF	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
673	BRAF	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
673	BRAF	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
673	BRAF	HP:0012505	Enlarged pituitary gland	HP:0040281	ORPHA:54595
673	BRAF	HP:0001840	Metatarsus adductus	-	OMIM:615777
673	BRAF	HP:0000529	Progressive visual loss	-	OMIM:115150
673	BRAF	HP:0000520	Proptosis	-	OMIM:115150
673	BRAF	HP:0000520	Proptosis	2/4	OMIM:131300
673	BRAF	HP:0000520	Proptosis	-	OMIM:187500
673	BRAF	HP:0000520	Proptosis	7/7	OMIM:615777
673	BRAF	HP:0000520	Proptosis	HP:0040281	ORPHA:648
673	BRAF	HP:0001824	Weight loss	HP:0040283	ORPHA:389
673	BRAF	HP:0000509	Conjunctivitis	-	OMIM:153400
673	BRAF	HP:0000508	Ptosis	HP:0040282	ORPHA:500
673	BRAF	HP:0000508	Ptosis	11/17	OMIM:115150
673	BRAF	HP:0000508	Ptosis	2/39	OMIM:153400
673	BRAF	HP:0000508	Ptosis	HP:0040281	ORPHA:648
673	BRAF	HP:0000508	Ptosis	HP:0040282	ORPHA:1340
673	BRAF	HP:0000508	Ptosis	77/136	OMIM:163950
673	BRAF	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:1340
673	BRAF	HP:0030358	Non-small cell lung carcinoma	-	OMIM:211980
673	BRAF	HP:0012569	Delayed menarche	HP:0040283	ORPHA:648
673	BRAF	HP:0000592	Blue sclerae	2/7	OMIM:615777
673	BRAF	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:648
673	BRAF	HP:0001892	Abnormal bleeding	3/18	OMIM:163950
673	BRAF	HP:0000561	Absent eyelashes	-	OMIM:115150
673	BRAF	HP:0011220	Prominent forehead	10/17	OMIM:115150
673	BRAF	HP:0011220	Prominent forehead	1/1	OMIM:613707
673	BRAF	HP:0011220	Prominent forehead	4/5	OMIM:613706
673	BRAF	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:96253
673	BRAF	HP:0000568	Microphthalmia	1/6	OMIM:153400
673	BRAF	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
673	BRAF	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:389
673	BRAF	HP:0012514	Lower limb pain	4/4	OMIM:131300
673	BRAF	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:389
673	BRAF	HP:0000545	Myopia	-	OMIM:115150
673	BRAF	HP:0000545	Myopia	HP:0040282	ORPHA:1340
673	BRAF	HP:0000545	Myopia	-	OMIM:163950
675	BRCA2	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
675	BRCA2	HP:0001123	Visual field defect	HP:0040283	ORPHA:440437
675	BRCA2	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
675	BRCA2	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:440437
675	BRCA2	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
675	BRCA2	HP:0001276	Hypertonia	HP:0040282	ORPHA:440437
675	BRCA2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:440437
675	BRCA2	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:440437
675	BRCA2	HP:0001250	Seizure	HP:0040282	ORPHA:440437
675	BRCA2	HP:0001252	Hypotonia	HP:0040282	ORPHA:440437
675	BRCA2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
675	BRCA2	HP:0001260	Dysarthria	HP:0040283	ORPHA:440437
675	BRCA2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
675	BRCA2	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
675	BRCA2	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
675	BRCA2	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
675	BRCA2	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
675	BRCA2	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
675	BRCA2	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:440437
675	BRCA2	HP:0003829	Typified by incomplete penetrance	-	OMIM:155255
675	BRCA2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
675	BRCA2	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:654
675	BRCA2	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:654
675	BRCA2	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
675	BRCA2	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
675	BRCA2	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
675	BRCA2	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
675	BRCA2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:440437
675	BRCA2	HP:0000047	Hypospadias	HP:0040283	ORPHA:654
675	BRCA2	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
675	BRCA2	HP:0025318	Ovarian carcinoma	HP:0040283	ORPHA:1333
675	BRCA2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
675	BRCA2	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
675	BRCA2	HP:0033834	Malaise	HP:0040283	ORPHA:654
675	BRCA2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
675	BRCA2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:654
675	BRCA2	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
675	BRCA2	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
675	BRCA2	HP:0002664	Neoplasm	HP:0040281	ORPHA:654
675	BRCA2	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
675	BRCA2	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
675	BRCA2	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:440437
675	BRCA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:605724
675	BRCA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613029
675	BRCA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:155255
675	BRCA2	HP:0002667	Nephroblastoma	9/30	OMIM:613029
675	BRCA2	HP:0002667	Nephroblastoma	HP:0040281	ORPHA:654
675	BRCA2	HP:0002667	Nephroblastoma	-	OMIM:194070
675	BRCA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
675	BRCA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:176807
675	BRCA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:612555
675	BRCA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:155255
675	BRCA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:194070
675	BRCA2	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
675	BRCA2	HP:0031105	Abnormal uterus morphology	HP:0040283	ORPHA:654
675	BRCA2	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:440437
675	BRCA2	HP:0012174	Glioblastoma multiforme	1/2	OMIM:613029
675	BRCA2	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
675	BRCA2	HP:0012125	Prostate cancer	HP:0040283	ORPHA:145
675	BRCA2	HP:0012125	Prostate cancer	-	OMIM:176807
675	BRCA2	HP:0012126	Stomach cancer	HP:0040284	ORPHA:440437
675	BRCA2	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
675	BRCA2	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
675	BRCA2	HP:0012113	Abnormal circulating creatine concentration	HP:0040283	ORPHA:440437
675	BRCA2	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
675	BRCA2	HP:0001442	Typified by somatic mosaicism	-	OMIM:176807
675	BRCA2	HP:0001442	Typified by somatic mosaicism	-	OMIM:194070
675	BRCA2	HP:0001442	Typified by somatic mosaicism	-	OMIM:155255
675	BRCA2	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
675	BRCA2	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:1333
675	BRCA2	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:440437
675	BRCA2	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:654
675	BRCA2	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:1333
675	BRCA2	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
675	BRCA2	HP:0002023	Anal atresia	2/7	OMIM:605724
675	BRCA2	HP:0002024	Malabsorption	HP:0040281	ORPHA:440437
675	BRCA2	HP:0002019	Constipation	HP:0040281	ORPHA:440437
675	BRCA2	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:440437
675	BRCA2	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:1333
675	BRCA2	HP:0002027	Abdominal pain	HP:0040281	ORPHA:440437
675	BRCA2	HP:0002027	Abdominal pain	HP:0040283	ORPHA:70567
675	BRCA2	HP:0002027	Abdominal pain	HP:0040282	ORPHA:654
675	BRCA2	HP:0002027	Abdominal pain	HP:0040281	ORPHA:1333
675	BRCA2	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
675	BRCA2	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:654
675	BRCA2	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
675	BRCA2	HP:0002094	Dyspnea	HP:0040284	ORPHA:654
675	BRCA2	HP:0002076	Migraine	HP:0040282	ORPHA:440437
675	BRCA2	HP:0002039	Anorexia	HP:0040283	ORPHA:70567
675	BRCA2	HP:0002039	Anorexia	HP:0040281	ORPHA:1333
675	BRCA2	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:440437
675	BRCA2	HP:0100574	Biliary tract neoplasm	HP:0040281	ORPHA:70567
675	BRCA2	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:440437
675	BRCA2	HP:0100592	Peritoneal abscess	HP:0040283	ORPHA:1333
675	BRCA2	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
675	BRCA2	HP:0010469	Absent testis	HP:0040283	ORPHA:84
675	BRCA2	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
675	BRCA2	HP:0003418	Back pain	HP:0040281	ORPHA:1333
675	BRCA2	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:440437
675	BRCA2	HP:0010526	Dysgraphia	HP:0040283	ORPHA:440437
675	BRCA2	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:440437
675	BRCA2	HP:0003401	Paresthesia	HP:0040283	ORPHA:440437
675	BRCA2	HP:0009592	Astrocytoma	2/28	OMIM:613029
675	BRCA2	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
675	BRCA2	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:440437
675	BRCA2	HP:0002254	Intermittent diarrhea	HP:0040283	ORPHA:1333
675	BRCA2	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
675	BRCA2	HP:0009726	Renal neoplasm	-	ORPHA:440437
675	BRCA2	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:440437
675	BRCA2	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
675	BRCA2	HP:0011985	Acholic stools	HP:0040281	ORPHA:70567
675	BRCA2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:440437
675	BRCA2	HP:0008330	Reduced von Willebrand factor activity	HP:0040283	ORPHA:654
675	BRCA2	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:440437
675	BRCA2	HP:0004812	B Acute Lymphoblastic Leukemia	2/30	OMIM:613029
675	BRCA2	HP:0004808	Acute myeloid leukemia	5/7	OMIM:605724
675	BRCA2	HP:0004808	Acute myeloid leukemia	10/28	OMIM:613029
675	BRCA2	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
675	BRCA2	HP:0002376	Developmental regression	HP:0040283	ORPHA:440437
675	BRCA2	HP:0002354	Memory impairment	HP:0040283	ORPHA:440437
675	BRCA2	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
675	BRCA2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:440437
675	BRCA2	HP:0100615	Ovarian neoplasm	HP:0040281	ORPHA:145
675	BRCA2	HP:0100615	Ovarian neoplasm	-	ORPHA:440437
675	BRCA2	HP:0100615	Ovarian neoplasm	-	OMIM:612555
675	BRCA2	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:440437
675	BRCA2	HP:0010784	Uterine neoplasm	HP:0040284	ORPHA:440437
675	BRCA2	HP:0009778	Short thumb	1/7	OMIM:605724
675	BRCA2	HP:0005528	Bone marrow hypocellularity	-	OMIM:605724
675	BRCA2	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
675	BRCA2	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
675	BRCA2	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
675	BRCA2	HP:0005580	Duplication of renal pelvis	HP:0040282	ORPHA:654
675	BRCA2	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
675	BRCA2	HP:0001945	Fever	HP:0040283	ORPHA:654
675	BRCA2	HP:0001945	Fever	HP:0040283	ORPHA:70567
675	BRCA2	HP:0001903	Anemia	HP:0040283	ORPHA:654
675	BRCA2	HP:0001903	Anemia	HP:0040281	ORPHA:84
675	BRCA2	HP:0001901	Polycythemia	HP:0040283	ORPHA:654
675	BRCA2	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
675	BRCA2	HP:0004322	Short stature	HP:0040281	ORPHA:84
675	BRCA2	HP:0004322	Short stature	-	OMIM:605724
675	BRCA2	HP:0003002	Breast carcinoma	-	OMIM:114480
675	BRCA2	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:145
675	BRCA2	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:1333
675	BRCA2	HP:0003002	Breast carcinoma	-	OMIM:612555
675	BRCA2	HP:0003003	Colon cancer	HP:0040283	ORPHA:1333
675	BRCA2	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:654
675	BRCA2	HP:0004389	Intestinal pseudo-obstruction	HP:0040282	ORPHA:1333
675	BRCA2	HP:0004396	Poor appetite	HP:0040281	ORPHA:1333
675	BRCA2	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:440437
675	BRCA2	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:440437
675	BRCA2	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
675	BRCA2	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
675	BRCA2	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
675	BRCA2	HP:0100013	Neoplasm of the breast	-	ORPHA:440437
675	BRCA2	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:440437
675	BRCA2	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
675	BRCA2	HP:0000738	Hallucinations	HP:0040283	ORPHA:440437
675	BRCA2	HP:0000737	Irritability	HP:0040282	ORPHA:440437
675	BRCA2	HP:0000739	Anxiety	HP:0040282	ORPHA:440437
675	BRCA2	HP:0000716	Depression	HP:0040282	ORPHA:440437
675	BRCA2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:440437
675	BRCA2	HP:0011462	Young adult onset	-	OMIM:612555
675	BRCA2	HP:0012871	Varicocele	HP:0040283	ORPHA:654
675	BRCA2	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
675	BRCA2	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1333
675	BRCA2	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
675	BRCA2	HP:0000822	Hypertension	HP:0040283	ORPHA:654
675	BRCA2	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
675	BRCA2	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
675	BRCA2	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
675	BRCA2	HP:0003221	Chromosomal breakage induced by crosslinking agents	-	OMIM:605724
675	BRCA2	HP:0100273	Neoplasm of the colon	HP:0040283	ORPHA:440437
675	BRCA2	HP:0000989	Pruritus	HP:0040282	ORPHA:70567
675	BRCA2	HP:0000957	Cafe-au-lait spot	4/7	OMIM:605724
675	BRCA2	HP:0000952	Jaundice	HP:0040281	ORPHA:70567
675	BRCA2	HP:0000952	Jaundice	HP:0040282	ORPHA:1333
675	BRCA2	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
675	BRCA2	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
675	BRCA2	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
675	BRCA2	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
675	BRCA2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
675	BRCA2	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
675	BRCA2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
675	BRCA2	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:1333
675	BRCA2	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:654
675	BRCA2	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
675	BRCA2	HP:0000252	Microcephaly	3/7	OMIM:605724
675	BRCA2	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
675	BRCA2	HP:0000218	High palate	HP:0040283	ORPHA:84
675	BRCA2	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:145
675	BRCA2	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:440437
675	BRCA2	HP:0002894	Neoplasm of the pancreas	-	OMIM:613347
675	BRCA2	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
675	BRCA2	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:440437
675	BRCA2	HP:0002885	Medulloblastoma	-	OMIM:155255
675	BRCA2	HP:0002885	Medulloblastoma	8/30	OMIM:613029
675	BRCA2	HP:0002861	Melanoma	HP:0040283	ORPHA:145
675	BRCA2	HP:0002861	Melanoma	HP:0040283	ORPHA:1333
675	BRCA2	HP:0001528	Hemihypertrophy	HP:0040283	ORPHA:654
675	BRCA2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
675	BRCA2	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
675	BRCA2	HP:0001508	Failure to thrive	5/7	OMIM:605724
675	BRCA2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:605724
675	BRCA2	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
675	BRCA2	HP:0001510	Growth delay	HP:0040283	ORPHA:84
675	BRCA2	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
675	BRCA2	HP:0031500	Abdominal mass	HP:0040281	ORPHA:654
675	BRCA2	HP:0012378	Fatigue	HP:0040281	ORPHA:440437
675	BRCA2	HP:0012378	Fatigue	HP:0040282	ORPHA:70567
675	BRCA2	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
675	BRCA2	HP:0011027	Abnormal fallopian tube morphology	HP:0040281	ORPHA:145
675	BRCA2	HP:0005249	Functional intestinal obstruction	HP:0040282	ORPHA:1333
675	BRCA2	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
675	BRCA2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:1333
675	BRCA2	HP:0002907	Microscopic hematuria	HP:0040283	ORPHA:654
675	BRCA2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
675	BRCA2	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
675	BRCA2	HP:0012334	Extrahepatic cholestasis	HP:0040282	ORPHA:1333
675	BRCA2	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
675	BRCA2	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
675	BRCA2	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
675	BRCA2	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
675	BRCA2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
675	BRCA2	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
675	BRCA2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
675	BRCA2	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
675	BRCA2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
675	BRCA2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
675	BRCA2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
675	BRCA2	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
675	BRCA2	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:1333
675	BRCA2	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
675	BRCA2	HP:0000486	Strabismus	HP:0040283	ORPHA:84
675	BRCA2	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
675	BRCA2	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
675	BRCA2	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
675	BRCA2	HP:0012432	Chronic fatigue	HP:0040281	ORPHA:1333
675	BRCA2	HP:0001763	Pes planus	HP:0040283	ORPHA:84
675	BRCA2	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
675	BRCA2	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
675	BRCA2	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:440437
675	BRCA2	HP:0006725	Pancreatic adenocarcinoma	HP:0040280	ORPHA:1333
675	BRCA2	HP:0006727	T-cell acute lymphoblastic leukemias	1/7	OMIM:605724
675	BRCA2	HP:0006727	T-cell acute lymphoblastic leukemias	3/28	OMIM:613029
675	BRCA2	HP:0030406	Primary peritoneal carcinoma	HP:0040281	ORPHA:145
675	BRCA2	HP:0000518	Cataract	HP:0040283	ORPHA:84
675	BRCA2	HP:0000526	Aniridia	HP:0040283	ORPHA:654
675	BRCA2	HP:0000520	Proptosis	HP:0040283	ORPHA:84
675	BRCA2	HP:0001824	Weight loss	HP:0040281	ORPHA:440437
675	BRCA2	HP:0001824	Weight loss	HP:0040283	ORPHA:84
675	BRCA2	HP:0001824	Weight loss	HP:0040283	ORPHA:654
675	BRCA2	HP:0001824	Weight loss	HP:0040281	ORPHA:1333
675	BRCA2	HP:0000508	Ptosis	HP:0040283	ORPHA:84
675	BRCA2	HP:0000505	Visual impairment	HP:0040283	ORPHA:440437
675	BRCA2	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
675	BRCA2	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
675	BRCA2	HP:0012587	Macroscopic hematuria	HP:0040282	ORPHA:654
675	BRCA2	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
675	BRCA2	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
675	BRCA2	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
675	BRCA2	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
675	BRCA2	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
676	BRDT	HP:0000007	Autosomal recessive inheritance	-	OMIM:617644
676	BRDT	HP:0011462	Young adult onset	1/1	OMIM:617644
676	BRDT	HP:0012869	Acephalic spermatozoa	1/1	OMIM:617644
676	BRDT	HP:0003251	Male infertility	1/1	OMIM:617644
676	BRDT	HP:0012207	Reduced sperm motility	1/1	OMIM:617644
678	ZFP36L2	HP:0033712	Repeated implantation failure	2/2	OMIM:620154
678	ZFP36L2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620154
678	ZFP36L2	HP:0008222	Female infertility	2/2	OMIM:620154
678	ZFP36L2	HP:0011462	Young adult onset	2/2	OMIM:620154
686	BTD	HP:0001138	Optic neuropathy	HP:0040283	ORPHA:79241
686	BTD	HP:0410145	Decreased circulating biotinidase concentration	-	OMIM:253260
686	BTD	HP:0410145	Decreased circulating biotinidase concentration	HP:0040281	ORPHA:79241
686	BTD	HP:0001254	Lethargy	-	OMIM:253260
686	BTD	HP:0001254	Lethargy	HP:0040283	ORPHA:79241
686	BTD	HP:0001250	Seizure	22/31	OMIM:253260
686	BTD	HP:0001250	Seizure	HP:0040282	ORPHA:79241
686	BTD	HP:0001252	Hypotonia	27/31	OMIM:253260
686	BTD	HP:0001252	Hypotonia	HP:0040282	ORPHA:79241
686	BTD	HP:0001251	Ataxia	18/31	OMIM:253260
686	BTD	HP:0001251	Ataxia	HP:0040283	ORPHA:79241
686	BTD	HP:0001249	Intellectual disability	HP:0040283	ORPHA:79241
686	BTD	HP:0001263	Global developmental delay	29/41	OMIM:253260
686	BTD	HP:0001263	Global developmental delay	HP:0040283	ORPHA:79241
686	BTD	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:79241
686	BTD	HP:0002506	Diffuse cerebral atrophy	-	OMIM:253260
686	BTD	HP:0008872	Feeding difficulties in infancy	-	OMIM:253260
686	BTD	HP:0000007	Autosomal recessive inheritance	-	OMIM:253260
686	BTD	HP:0002789	Tachypnea	6/31	OMIM:253260
686	BTD	HP:0002715	Abnormality of the immune system	HP:0040282	ORPHA:79241
686	BTD	HP:0002014	Diarrhea	-	OMIM:253260
686	BTD	HP:0002013	Vomiting	-	OMIM:253260
686	BTD	HP:0005979	Metabolic ketoacidosis	25/31	OMIM:253260
686	BTD	HP:0005979	Metabolic ketoacidosis	HP:0040281	ORPHA:79241
686	BTD	HP:0002098	Respiratory distress	HP:0040283	ORPHA:79241
686	BTD	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:79241
686	BTD	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:79241
686	BTD	HP:0002104	Apnea	-	OMIM:253260
686	BTD	HP:0002104	Apnea	HP:0040283	ORPHA:79241
686	BTD	HP:0002196	Myelopathy	HP:0040283	ORPHA:79241
686	BTD	HP:0003593	Infantile onset	-	OMIM:253260
686	BTD	HP:0002240	Hepatomegaly	-	OMIM:253260
686	BTD	HP:0001051	Seborrheic dermatitis	-	OMIM:253260
686	BTD	HP:0003690	Limb muscle weakness	HP:0040283	ORPHA:79241
686	BTD	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:79241
686	BTD	HP:0200068	Nonprogressive visual loss	HP:0040283	ORPHA:79241
686	BTD	HP:0000648	Optic atrophy	17/31	OMIM:253260
686	BTD	HP:0000648	Optic atrophy	HP:0040283	ORPHA:79241
686	BTD	HP:0001992	Organic aciduria	25/29	OMIM:253260
686	BTD	HP:0001992	Organic aciduria	HP:0040281	ORPHA:79241
686	BTD	HP:0001987	Hyperammonemia	10/31	OMIM:253260
686	BTD	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:79241
686	BTD	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:79241
686	BTD	HP:0011463	Childhood onset	-	OMIM:253260
686	BTD	HP:0004429	Recurrent viral infections	HP:0040283	ORPHA:79241
686	BTD	HP:0100275	Diffuse cerebellar atrophy	-	OMIM:253260
686	BTD	HP:0000988	Skin rash	21/31	OMIM:253260
686	BTD	HP:0000988	Skin rash	HP:0040282	ORPHA:79241
686	BTD	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:79241
686	BTD	HP:0001596	Alopecia	24/31	OMIM:253260
686	BTD	HP:0001596	Alopecia	HP:0040283	ORPHA:79241
686	BTD	HP:0001581	Recurrent skin infections	-	OMIM:253260
686	BTD	HP:0002883	Hyperventilation	HP:0040283	ORPHA:79241
686	BTD	HP:0002841	Recurrent fungal infections	HP:0040283	ORPHA:79241
686	BTD	HP:0006511	Laryngeal stridor	HP:0040283	ORPHA:79241
686	BTD	HP:0000365	Hearing impairment	HP:0040283	ORPHA:79241
686	BTD	HP:0011153	Focal motor seizure	HP:0040283	ORPHA:79241
686	BTD	HP:0000407	Sensorineural hearing impairment	-	OMIM:253260
686	BTD	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:79241
686	BTD	HP:0012469	Infantile spasms	HP:0040283	ORPHA:79241
686	BTD	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:79241
686	BTD	HP:0001744	Splenomegaly	-	OMIM:253260
686	BTD	HP:0005401	Recurrent candida infections	HP:0040283	ORPHA:79241
686	BTD	HP:0000509	Conjunctivitis	14/31	OMIM:253260
686	BTD	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:79241
686	BTD	HP:0000575	Scotoma	HP:0040283	ORPHA:79241
686	BTD	HP:0000572	Visual loss	-	OMIM:253260
695	BTK	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
695	BTK	HP:0003729	Enteroviral dermatomyositis syndrome	-	OMIM:300755
695	BTK	HP:0003729	Enteroviral dermatomyositis syndrome	-	OMIM:307200
695	BTK	HP:0001293	Cranial nerve compression	-	OMIM:131300
695	BTK	HP:0100806	Sepsis	16/19	OMIM:300755
695	BTK	HP:0100806	Sepsis	HP:0040282	ORPHA:47
695	BTK	HP:0001287	Meningitis	-	OMIM:300755
695	BTK	HP:0001287	Meningitis	HP:0040282	ORPHA:47
695	BTK	HP:0001287	Meningitis	-	OMIM:307200
695	BTK	HP:0100838	Recurrent cutaneous abscess formation	HP:0040281	ORPHA:47
695	BTK	HP:0001252	Hypotonia	2/7	OMIM:615777
695	BTK	HP:0001249	Intellectual disability	5/7	OMIM:615777
695	BTK	HP:0001263	Global developmental delay	-	OMIM:615777
695	BTK	HP:0410303	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	1/1	OMIM:300755
695	BTK	HP:0010976	Decreased total B cell count	44/44	OMIM:300755
695	BTK	HP:0002515	Waddling gait	54/102	OMIM:131300
695	BTK	HP:0001369	Arthritis	HP:0040282	ORPHA:47
695	BTK	HP:0001382	Joint hypermobility	-	OMIM:615777
695	BTK	HP:0000024	Prostatitis	-	OMIM:300755
695	BTK	HP:0000024	Prostatitis	-	OMIM:307200
695	BTK	HP:0002694	Sclerosis of skull base	-	OMIM:131300
695	BTK	HP:0000031	Epididymitis	-	OMIM:300755
695	BTK	HP:0000031	Epididymitis	-	OMIM:307200
695	BTK	HP:0008897	Postnatal growth retardation	-	OMIM:615777
695	BTK	HP:0002664	Neoplasm	HP:0040283	ORPHA:47
695	BTK	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
695	BTK	HP:0001324	Muscle weakness	40/96	OMIM:131300
695	BTK	HP:0000010	Recurrent urinary tract infections	-	OMIM:300755
695	BTK	HP:0000010	Recurrent urinary tract infections	-	OMIM:307200
695	BTK	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
695	BTK	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
695	BTK	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
695	BTK	HP:0002650	Scoliosis	12/14	OMIM:131300
695	BTK	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
695	BTK	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
695	BTK	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
695	BTK	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
695	BTK	HP:0000162	Glossoptosis	HP:0040281	ORPHA:47
695	BTK	HP:0000175	Cleft palate	2/7	OMIM:615777
695	BTK	HP:0012115	Hepatitis	HP:0040283	ORPHA:47
695	BTK	HP:0002783	Recurrent lower respiratory tract infections	19/22	OMIM:300755
695	BTK	HP:0002754	Osteomyelitis	HP:0040283	ORPHA:47
695	BTK	HP:0002732	Lymph node hypoplasia	-	OMIM:300755
695	BTK	HP:0001402	Hepatocellular carcinoma	1/19	OMIM:300755
695	BTK	HP:0002750	Delayed skeletal maturation	4/4	OMIM:307200
695	BTK	HP:0001419	X-linked recessive inheritance	-	OMIM:300755
695	BTK	HP:0001419	X-linked recessive inheritance	-	OMIM:307200
695	BTK	HP:0001412	Enteroviral hepatitis	-	OMIM:300755
695	BTK	HP:0001412	Enteroviral hepatitis	-	OMIM:307200
695	BTK	HP:0002743	Recurrent enteroviral infections	-	OMIM:307200
695	BTK	HP:0002719	Recurrent infections	-	OMIM:300755
695	BTK	HP:0002718	Recurrent bacterial infections	-	OMIM:307200
695	BTK	HP:0002720	Decreased circulating IgA concentration	2/3	OMIM:300755
695	BTK	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:47
695	BTK	HP:0002024	Malabsorption	HP:0040283	ORPHA:47
695	BTK	HP:0002028	Chronic diarrhea	8/22	OMIM:300755
695	BTK	HP:0002028	Chronic diarrhea	HP:0040281	ORPHA:47
695	BTK	HP:0002014	Diarrhea	-	OMIM:307200
695	BTK	HP:0002088	Abnormal lung morphology	HP:0040282	ORPHA:47
695	BTK	HP:0002090	Pneumonia	-	OMIM:307200
695	BTK	HP:0003388	Easy fatigability	36/76	OMIM:131300
695	BTK	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
695	BTK	HP:0002110	Bronchiectasis	11/19	OMIM:300755
695	BTK	HP:0011839	Abnormal T cell count	0/4	OMIM:307200
695	BTK	HP:0003593	Infantile onset	27/44	OMIM:300755
695	BTK	HP:0100765	Abnormality of the tonsils	HP:0040281	ORPHA:47
695	BTK	HP:0100763	Abnormality of the lymphatic system	HP:0040281	ORPHA:47
695	BTK	HP:0011946	Bronchiolitis obliterans	2/2	OMIM:300755
695	BTK	HP:0003510	Severe short stature	7/7	OMIM:615777
695	BTK	HP:0002383	Infectious encephalitis	-	OMIM:300755
695	BTK	HP:0002383	Infectious encephalitis	-	OMIM:307200
695	BTK	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:47
695	BTK	HP:0002315	Headache	-	OMIM:131300
695	BTK	HP:0004976	Knee dislocation	6/7	OMIM:615777
695	BTK	HP:0100658	Cellulitis	HP:0040282	ORPHA:47
695	BTK	HP:0009803	Short phalanx of finger	-	OMIM:615777
695	BTK	HP:0200042	Skin ulcer	HP:0040281	ORPHA:47
695	BTK	HP:0009763	Limb pain	63/92	OMIM:131300
695	BTK	HP:0003623	Neonatal onset	1/19	OMIM:300755
695	BTK	HP:0003621	Juvenile onset	3/41	OMIM:300755
695	BTK	HP:0003621	Juvenile onset	-	OMIM:131300
695	BTK	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
695	BTK	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
695	BTK	HP:6001056	Out-toeing	-	OMIM:131300
695	BTK	HP:0000651	Diplopia	-	OMIM:131300
695	BTK	HP:0001945	Fever	HP:0040281	ORPHA:47
695	BTK	HP:0001956	Truncal obesity	2/7	OMIM:615777
695	BTK	HP:0001903	Anemia	6/22	OMIM:300755
695	BTK	HP:0001903	Anemia	HP:0040283	OMIM:131300
695	BTK	HP:0001903	Anemia	HP:0040283	ORPHA:47
695	BTK	HP:0010049	Short metacarpal	-	OMIM:615777
695	BTK	HP:0000678	Dental crowding	-	OMIM:615777
695	BTK	HP:0000670	Carious teeth	-	OMIM:131300
695	BTK	HP:0011304	Broad thumb	2/7	OMIM:615777
695	BTK	HP:0000668	Hypodontia	-	OMIM:615777
695	BTK	HP:0000664	Synophrys	-	OMIM:615777
695	BTK	HP:0004322	Short stature	HP:0040281	ORPHA:47
695	BTK	HP:0004322	Short stature	4/4	OMIM:307200
695	BTK	HP:0004315	Decreased circulating IgG concentration	2/3	OMIM:300755
695	BTK	HP:0004396	Poor appetite	-	OMIM:131300
695	BTK	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
695	BTK	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
695	BTK	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
695	BTK	HP:0003026	Short long bone	7/7	OMIM:615777
695	BTK	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
695	BTK	HP:0000767	Pectus excavatum	2/7	OMIM:615777
695	BTK	HP:0000768	Pectus carinatum	1/7	OMIM:615777
695	BTK	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
695	BTK	HP:0000750	Delayed speech and language development	-	OMIM:300755
695	BTK	HP:0000750	Delayed speech and language development	-	OMIM:615777
695	BTK	HP:0011463	Childhood onset	13/43	OMIM:300755
695	BTK	HP:0011461	Fetal onset	7/7	OMIM:615777
695	BTK	HP:0000774	Narrow chest	2/7	OMIM:615777
695	BTK	HP:0004432	Agammaglobulinemia	HP:0040281	ORPHA:47
695	BTK	HP:0004432	Agammaglobulinemia	22/22	OMIM:300755
695	BTK	HP:0000926	Platyspondyly	1/7	OMIM:615777
695	BTK	HP:0003180	Flat acetabular roof	-	OMIM:615777
695	BTK	HP:0004482	Relative macrocephaly	-	OMIM:615777
695	BTK	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
695	BTK	HP:0003139	Panhypogammaglobulinemia	3/4	OMIM:307200
695	BTK	HP:0003095	Septic arthritis	-	OMIM:300755
695	BTK	HP:0003095	Septic arthritis	-	OMIM:307200
695	BTK	HP:0000824	Decreased response to growth hormone stimulation test	2/4	OMIM:307200
695	BTK	HP:0000823	Delayed puberty	-	OMIM:131300
695	BTK	HP:0000823	Delayed puberty	2/2	OMIM:307200
695	BTK	HP:0000894	Short clavicles	-	OMIM:615777
695	BTK	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
695	BTK	HP:0030828	Wheezing	2/2	OMIM:300755
695	BTK	HP:0000999	Pyoderma	-	OMIM:300755
695	BTK	HP:0000999	Pyoderma	-	OMIM:307200
695	BTK	HP:0000988	Skin rash	HP:0040281	ORPHA:47
695	BTK	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
695	BTK	HP:0000286	Epicanthus	1/7	OMIM:615777
695	BTK	HP:0000280	Coarse facial features	2/7	OMIM:615777
695	BTK	HP:0001596	Alopecia	HP:0040283	ORPHA:47
695	BTK	HP:0002827	Hip dislocation	3/7	OMIM:615777
695	BTK	HP:0000252	Microcephaly	-	OMIM:615777
695	BTK	HP:0000246	Sinusitis	HP:0040281	ORPHA:47
695	BTK	HP:0000246	Sinusitis	-	OMIM:307200
695	BTK	HP:0002857	Genu valgum	-	OMIM:131300
695	BTK	HP:0001533	Slender build	-	OMIM:131300
695	BTK	HP:0001508	Failure to thrive	HP:0040281	ORPHA:47
695	BTK	HP:0002850	Decreased circulating total IgM	3/3	OMIM:300755
695	BTK	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
695	BTK	HP:0007807	Optic nerve compression	-	OMIM:131300
695	BTK	HP:0012378	Fatigue	HP:0040281	ORPHA:47
695	BTK	HP:0012368	Flat face	7/7	OMIM:615777
695	BTK	HP:0000389	Chronic otitis media	HP:0040281	ORPHA:47
695	BTK	HP:0006532	Recurrent pneumonia	15/21	OMIM:300755
695	BTK	HP:0006532	Recurrent pneumonia	HP:0040281	ORPHA:47
695	BTK	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
695	BTK	HP:0002901	Hypocalcemia	HP:0040282	ORPHA:47
695	BTK	HP:0000365	Hearing impairment	-	OMIM:300755
695	BTK	HP:0000365	Hearing impairment	-	OMIM:307200
695	BTK	HP:0000365	Hearing impairment	10/67	OMIM:131300
695	BTK	HP:0000343	Long philtrum	1/7	OMIM:615777
695	BTK	HP:0011001	Increased bone mineral density	-	OMIM:131300
695	BTK	HP:0001648	Cor pulmonale	-	OMIM:300755
695	BTK	HP:0000311	Round face	2/7	OMIM:615777
695	BTK	HP:0002960	Autoimmunity	HP:0040283	ORPHA:47
695	BTK	HP:0002970	Genu varum	-	OMIM:615777
695	BTK	HP:0000303	Mandibular prognathia	-	OMIM:131300
695	BTK	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:47
695	BTK	HP:0000403	Recurrent otitis media	23/41	OMIM:300755
695	BTK	HP:0000403	Recurrent otitis media	2/4	OMIM:307200
695	BTK	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
695	BTK	HP:0000470	Short neck	1/7	OMIM:615777
695	BTK	HP:0011108	Recurrent sinusitis	13/19	OMIM:300755
695	BTK	HP:0030252	Absent circulating B cells	3/4	OMIM:307200
695	BTK	HP:0001769	Broad foot	HP:0040283	OMIM:615777
695	BTK	HP:0001763	Pes planus	1/7	OMIM:615777
695	BTK	HP:0005403	Decreased total T cell count	0/1	OMIM:300755
695	BTK	HP:0005479	Decreased circulating IgE concentration	2/2	OMIM:300755
695	BTK	HP:0001840	Metatarsus adductus	-	OMIM:615777
695	BTK	HP:0000520	Proptosis	2/4	OMIM:131300
695	BTK	HP:0000520	Proptosis	7/7	OMIM:615777
695	BTK	HP:0001824	Weight loss	HP:0040283	ORPHA:47
695	BTK	HP:0000509	Conjunctivitis	-	OMIM:300755
695	BTK	HP:0000509	Conjunctivitis	HP:0040281	ORPHA:47
695	BTK	HP:0000509	Conjunctivitis	2/4	OMIM:307200
695	BTK	HP:0000592	Blue sclerae	2/7	OMIM:615777
695	BTK	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
695	BTK	HP:0012514	Lower limb pain	4/4	OMIM:131300
695	BTK	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:47
695	BTK	HP:0001875	Decreased total neutrophil count	HP:0040282	ORPHA:47
695	BTK	HP:0001875	Decreased total neutrophil count	9/22	OMIM:300755
699	BUB1	HP:0025116	Fetal distress	1/2	OMIM:620183
699	BUB1	HP:0009909	Uplifted earlobe	1/2	OMIM:620183
699	BUB1	HP:0010880	Increased nuchal translucency	1/2	OMIM:620183
699	BUB1	HP:0010880	Increased nuchal translucency	HP:0040281	ORPHA:1052
699	BUB1	HP:0001250	Seizure	HP:0040283	ORPHA:1052
699	BUB1	HP:0001252	Hypotonia	HP:0040283	ORPHA:1052
699	BUB1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1052
699	BUB1	HP:0001249	Intellectual disability	1/1	OMIM:620183
699	BUB1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1052
699	BUB1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1052
699	BUB1	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:1052
699	BUB1	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:1052
699	BUB1	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:1052
699	BUB1	HP:0000023	Inguinal hernia	1/2	OMIM:620183
699	BUB1	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:1052
699	BUB1	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:1052
699	BUB1	HP:0002664	Neoplasm	HP:0040283	ORPHA:1052
699	BUB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620183
699	BUB1	HP:0002667	Nephroblastoma	HP:0040283	ORPHA:1052
699	BUB1	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:1052
699	BUB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
699	BUB1	HP:0001305	Dandy-Walker malformation	HP:0040281	ORPHA:1052
699	BUB1	HP:0000185	Cleft soft palate	1/2	OMIM:620183
699	BUB1	HP:0000175	Cleft palate	HP:0040283	ORPHA:1052
699	BUB1	HP:0012126	Stomach cancer	HP:0040283	ORPHA:1052
699	BUB1	HP:0002797	Osteolysis	HP:0040283	ORPHA:1052
699	BUB1	HP:0002777	Tracheal stenosis	2/2	OMIM:620183
699	BUB1	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
699	BUB1	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1052
699	BUB1	HP:0002120	Cerebral cortical atrophy	1/1	OMIM:620183
699	BUB1	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1052
699	BUB1	HP:0002119	Ventriculomegaly	1/1	OMIM:620183
699	BUB1	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:1052
699	BUB1	HP:0002104	Apnea	HP:0040283	ORPHA:1052
699	BUB1	HP:0003577	Congenital onset	2/2	OMIM:620183
699	BUB1	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:1052
699	BUB1	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:1052
699	BUB1	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:1052
699	BUB1	HP:0100650	Vaginal neoplasm	HP:0040283	ORPHA:1052
699	BUB1	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:1052
699	BUB1	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:1052
699	BUB1	HP:0004209	Clinodactyly of the 5th finger	1/2	OMIM:620183
699	BUB1	HP:0005584	Renal cell carcinoma	-	OMIM:114500
699	BUB1	HP:0000637	Long palpebral fissure	1/2	OMIM:620183
699	BUB1	HP:0004322	Short stature	HP:0040281	ORPHA:1052
699	BUB1	HP:0003003	Colon cancer	HP:0040283	ORPHA:1052
699	BUB1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:1052
699	BUB1	HP:0011451	Primary microcephaly	2/2	OMIM:620183
699	BUB1	HP:0000929	Abnormal skull morphology	HP:0040283	ORPHA:1052
699	BUB1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:1052
699	BUB1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1052
699	BUB1	HP:0000957	Cafe-au-lait spot	1/2	OMIM:620183
699	BUB1	HP:0000956	Acanthosis nigricans	1/2	OMIM:620183
699	BUB1	HP:0000286	Epicanthus	HP:0040281	ORPHA:1052
699	BUB1	HP:0000286	Epicanthus	1/2	OMIM:620183
699	BUB1	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:1052
699	BUB1	HP:0000252	Microcephaly	HP:0040282	ORPHA:1052
699	BUB1	HP:0000219	Thin upper lip vermilion	1/2	OMIM:620183
699	BUB1	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:1052
699	BUB1	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
699	BUB1	HP:0002859	Rhabdomyosarcoma	HP:0040283	ORPHA:1052
699	BUB1	HP:0001541	Ascites	HP:0040281	ORPHA:1052
699	BUB1	HP:0000201	Pierre-Robin sequence	1/2	OMIM:620183
699	BUB1	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:1052
699	BUB1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:1052
699	BUB1	HP:0001511	Intrauterine growth retardation	1/2	OMIM:620183
699	BUB1	HP:0001510	Growth delay	HP:0040283	ORPHA:1052
699	BUB1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1052
699	BUB1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:1052
699	BUB1	HP:0000340	Sloping forehead	HP:0040283	ORPHA:1052
699	BUB1	HP:0001682	Subvalvular aortic stenosis	HP:0040283	ORPHA:1052
699	BUB1	HP:0001684	Secundum atrial septal defect	2/2	OMIM:620183
699	BUB1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:1052
699	BUB1	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:1052
699	BUB1	HP:0000348	High forehead	HP:0040283	ORPHA:1052
699	BUB1	HP:0000347	Micrognathia	HP:0040281	ORPHA:1052
699	BUB1	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:1052
699	BUB1	HP:0000325	Triangular face	HP:0040282	ORPHA:1052
699	BUB1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1052
699	BUB1	HP:0007957	Corneal opacity	HP:0040281	ORPHA:1052
699	BUB1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:1052
699	BUB1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:1052
699	BUB1	HP:0000457	Depressed nasal ridge	HP:0040283	ORPHA:1052
699	BUB1	HP:0000452	Choanal stenosis	1/2	OMIM:620183
699	BUB1	HP:0000445	Wide nose	HP:0040283	ORPHA:1052
699	BUB1	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
699	BUB1	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
699	BUB1	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
699	BUB1	HP:0006721	Acute lymphoblastic leukemia	HP:0040283	ORPHA:1052
699	BUB1	HP:0000518	Cataract	HP:0040281	ORPHA:1052
699	BUB1	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1052
699	BUB1	HP:0000501	Glaucoma	HP:0040281	ORPHA:1052
699	BUB1	HP:0000568	Microphthalmia	HP:0040281	ORPHA:1052
701	BUB1B	HP:0002445	Tetraplegia	2/10	OMIM:257300
701	BUB1B	HP:0010880	Increased nuchal translucency	HP:0040281	ORPHA:1052
701	BUB1B	HP:0001290	Generalized hypotonia	-	OMIM:257300
701	BUB1B	HP:0001274	Agenesis of corpus callosum	-	OMIM:257300
701	BUB1B	HP:0001250	Seizure	HP:0040283	ORPHA:1052
701	BUB1B	HP:0001250	Seizure	2/10	OMIM:257300
701	BUB1B	HP:0001252	Hypotonia	HP:0040283	ORPHA:1052
701	BUB1B	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1052
701	BUB1B	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1052
701	BUB1B	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1052
701	BUB1B	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:1052
701	BUB1B	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000062	Ambiguous genitalia	-	OMIM:257300
701	BUB1B	HP:0000054	Micropenis	-	OMIM:257300
701	BUB1B	HP:0000048	Bifid scrotum	-	OMIM:257300
701	BUB1B	HP:0000047	Hypospadias	-	OMIM:257300
701	BUB1B	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000028	Cryptorchidism	-	OMIM:257300
701	BUB1B	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:1052
701	BUB1B	HP:0008897	Postnatal growth retardation	-	OMIM:257300
701	BUB1B	HP:0008872	Feeding difficulties in infancy	-	OMIM:257300
701	BUB1B	HP:0002664	Neoplasm	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000007	Autosomal recessive inheritance	-	OMIM:257300
701	BUB1B	HP:0002667	Nephroblastoma	-	OMIM:257300
701	BUB1B	HP:0002667	Nephroblastoma	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000003	Multicystic kidney dysplasia	1/10	OMIM:257300
701	BUB1B	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
701	BUB1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:176430
701	BUB1B	HP:0001305	Dandy-Walker malformation	HP:0040281	ORPHA:1052
701	BUB1B	HP:0001305	Dandy-Walker malformation	-	OMIM:257300
701	BUB1B	HP:0001321	Cerebellar hypoplasia	-	OMIM:257300
701	BUB1B	HP:0000175	Cleft palate	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000175	Cleft palate	-	OMIM:257300
701	BUB1B	HP:0012126	Stomach cancer	HP:0040283	ORPHA:1052
701	BUB1B	HP:0002797	Osteolysis	HP:0040283	ORPHA:1052
701	BUB1B	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
701	BUB1B	HP:0000107	Renal cyst	-	OMIM:257300
701	BUB1B	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1052
701	BUB1B	HP:0011800	Midface retrusion	-	OMIM:257300
701	BUB1B	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:257300
701	BUB1B	HP:0002123	Generalized myoclonic seizure	-	OMIM:257300
701	BUB1B	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1052
701	BUB1B	HP:0002119	Ventriculomegaly	-	OMIM:257300
701	BUB1B	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:1052
701	BUB1B	HP:0002104	Apnea	HP:0040283	ORPHA:1052
701	BUB1B	HP:0002187	Intellectual disability, profound	-	OMIM:257300
701	BUB1B	HP:0002247	Duodenal atresia	1/10	OMIM:257300
701	BUB1B	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:1052
701	BUB1B	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:1052
701	BUB1B	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:1052
701	BUB1B	HP:0100650	Vaginal neoplasm	HP:0040283	ORPHA:1052
701	BUB1B	HP:0200024	Premature chromatid separation	-	OMIM:176430
701	BUB1B	HP:0200024	Premature chromatid separation	-	OMIM:257300
701	BUB1B	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:1052
701	BUB1B	HP:0006872	Cerebral hypoplasia	1/10	OMIM:257300
701	BUB1B	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:1052
701	BUB1B	HP:0006849	Hypodysplasia of the corpus callosum	-	OMIM:257300
701	BUB1B	HP:0005584	Renal cell carcinoma	-	OMIM:114500
701	BUB1B	HP:0000639	Nystagmus	-	OMIM:257300
701	BUB1B	HP:0001909	Leukemia	-	OMIM:257300
701	BUB1B	HP:0011344	Severe global developmental delay	-	OMIM:257300
701	BUB1B	HP:0004322	Short stature	HP:0040281	ORPHA:1052
701	BUB1B	HP:0004322	Short stature	-	OMIM:257300
701	BUB1B	HP:0003003	Colon cancer	HP:0040283	ORPHA:1052
701	BUB1B	HP:0030674	Antenatal onset	9/9	OMIM:257300
701	BUB1B	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:1052
701	BUB1B	HP:0003196	Short nose	-	OMIM:257300
701	BUB1B	HP:0000929	Abnormal skull morphology	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000879	Short sternum	-	OMIM:257300
701	BUB1B	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000286	Epicanthus	HP:0040281	ORPHA:1052
701	BUB1B	HP:0000286	Epicanthus	-	OMIM:257300
701	BUB1B	HP:0000272	Malar flattening	-	OMIM:257300
701	BUB1B	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000238	Hydrocephalus	-	OMIM:257300
701	BUB1B	HP:0000252	Microcephaly	HP:0040282	ORPHA:1052
701	BUB1B	HP:0000252	Microcephaly	9/9	OMIM:257300
701	BUB1B	HP:0000248	Brachycephaly	-	OMIM:257300
701	BUB1B	HP:0001562	Oligohydramnios	-	OMIM:257300
701	BUB1B	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:1052
701	BUB1B	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
701	BUB1B	HP:0002859	Rhabdomyosarcoma	HP:0040283	ORPHA:1052
701	BUB1B	HP:0001541	Ascites	HP:0040281	ORPHA:1052
701	BUB1B	HP:0000207	Triangular mouth	-	OMIM:257300
701	BUB1B	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:1052
701	BUB1B	HP:0001518	Small for gestational age	9/9	OMIM:257300
701	BUB1B	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:1052
701	BUB1B	HP:0001511	Intrauterine growth retardation	9/9	OMIM:257300
701	BUB1B	HP:0001510	Growth delay	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000358	Posteriorly rotated ears	-	OMIM:257300
701	BUB1B	HP:0000369	Low-set ears	-	OMIM:257300
701	BUB1B	HP:0000340	Sloping forehead	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000343	Long philtrum	-	OMIM:257300
701	BUB1B	HP:0001682	Subvalvular aortic stenosis	HP:0040283	ORPHA:1052
701	BUB1B	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:1052
701	BUB1B	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000348	High forehead	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000348	High forehead	-	OMIM:257300
701	BUB1B	HP:0000347	Micrognathia	HP:0040281	ORPHA:1052
701	BUB1B	HP:0000347	Micrognathia	-	OMIM:257300
701	BUB1B	HP:0000316	Hypertelorism	-	OMIM:257300
701	BUB1B	HP:0001642	Pulmonic stenosis	1/10	OMIM:257300
701	BUB1B	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000325	Triangular face	HP:0040282	ORPHA:1052
701	BUB1B	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1052
701	BUB1B	HP:0001631	Atrial septal defect	2/10	OMIM:257300
701	BUB1B	HP:0007957	Corneal opacity	HP:0040281	ORPHA:1052
701	BUB1B	HP:0005387	Combined immunodeficiency	-	OMIM:257300
701	BUB1B	HP:0005280	Depressed nasal bridge	-	OMIM:257300
701	BUB1B	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:1052
701	BUB1B	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000463	Anteverted nares	-	OMIM:257300
701	BUB1B	HP:0000457	Depressed nasal ridge	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000470	Short neck	-	OMIM:257300
701	BUB1B	HP:0000445	Wide nose	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000445	Wide nose	-	OMIM:257300
701	BUB1B	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
701	BUB1B	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
701	BUB1B	HP:0006743	Embryonal rhabdomyosarcoma	2/10	OMIM:257300
701	BUB1B	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
701	BUB1B	HP:0006721	Acute lymphoblastic leukemia	HP:0040283	ORPHA:1052
701	BUB1B	HP:0000518	Cataract	HP:0040281	ORPHA:1052
701	BUB1B	HP:0000518	Cataract	-	OMIM:257300
701	BUB1B	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1052
701	BUB1B	HP:0000501	Glaucoma	HP:0040281	ORPHA:1052
701	BUB1B	HP:0000582	Upslanted palpebral fissure	-	OMIM:257300
701	BUB1B	HP:0000568	Microphthalmia	HP:0040281	ORPHA:1052
708	C1QBP	HP:0010851	EEG with burst suppression	1/2	OMIM:617713
708	C1QBP	HP:0000007	Autosomal recessive inheritance	-	OMIM:617713
708	C1QBP	HP:0000100	Nephrotic syndrome	1/4	OMIM:617713
708	C1QBP	HP:0002151	Increased circulating lactate concentration	3/4	OMIM:617713
708	C1QBP	HP:0011924	Decreased activity of mitochondrial complex III	4/4	OMIM:617713
708	C1QBP	HP:0011923	Decreased activity of mitochondrial complex I	4/4	OMIM:617713
708	C1QBP	HP:0002181	Cerebral edema	1/4	OMIM:617713
708	C1QBP	HP:0003577	Congenital onset	1/4	OMIM:617713
708	C1QBP	HP:0002240	Hepatomegaly	1/4	OMIM:617713
708	C1QBP	HP:0003584	Late onset	1/4	OMIM:617713
708	C1QBP	HP:0003546	Exercise intolerance	2/4	OMIM:617713
708	C1QBP	HP:0008347	Decreased activity of mitochondrial complex IV	4/4	OMIM:617713
708	C1QBP	HP:0003623	Neonatal onset	1/4	OMIM:617713
708	C1QBP	HP:0003621	Juvenile onset	1/4	OMIM:617713
708	C1QBP	HP:0000646	Amblyopia	1/4	OMIM:617713
708	C1QBP	HP:0003198	Myopathy	-	OMIM:617713
708	C1QBP	HP:0003128	Lactic acidosis	2/4	OMIM:617713
708	C1QBP	HP:0000821	Hypothyroidism	1/4	OMIM:617713
708	C1QBP	HP:0003236	Elevated circulating creatine kinase concentration	1/4	OMIM:617713
708	C1QBP	HP:0001562	Oligohydramnios	2/4	OMIM:617713
708	C1QBP	HP:0001511	Intrauterine growth retardation	1/4	OMIM:617713
708	C1QBP	HP:0012378	Fatigue	1/4	OMIM:617713
708	C1QBP	HP:0002910	Elevated circulating hepatic transaminase concentration	1/4	OMIM:617713
708	C1QBP	HP:0001695	Cardiac arrest	1/4	OMIM:617713
708	C1QBP	HP:0001640	Cardiomegaly	2/4	OMIM:617713
708	C1QBP	HP:0001638	Cardiomyopathy	4/4	OMIM:617713
708	C1QBP	HP:0000407	Sensorineural hearing impairment	1/4	OMIM:617713
708	C1QBP	HP:0001712	Left ventricular hypertrophy	2/4	OMIM:617713
708	C1QBP	HP:0000483	Astigmatism	1/4	OMIM:617713
708	C1QBP	HP:0000508	Ptosis	2/4	OMIM:617713
708	C1QBP	HP:0000590	Progressive external ophthalmoplegia	2/4	OMIM:617713
710	SERPING1	HP:0025349	Limbal edema	HP:0040281	ORPHA:100050
710	SERPING1	HP:0012027	Laryngeal edema	HP:0040281	ORPHA:100050
710	SERPING1	HP:0012027	Laryngeal edema	1/2	OMIM:106100
710	SERPING1	HP:0007514	Edema of the dorsum of hands	HP:0040281	ORPHA:100050
710	SERPING1	HP:0001324	Muscle weakness	1/1	OMIM:106100
710	SERPING1	HP:0000007	Autosomal recessive inheritance	-	OMIM:106100
710	SERPING1	HP:0000006	Autosomal dominant inheritance	-	OMIM:106100
710	SERPING1	HP:0000006	Autosomal dominant inheritance	-	OMIM:120790
710	SERPING1	HP:0033748	Hypoesthesia	1/1	OMIM:106100
710	SERPING1	HP:0002615	Hypotension	HP:0040283	ORPHA:100050
710	SERPING1	HP:0000172	Abnormal uvula morphology	HP:0040283	ORPHA:100050
710	SERPING1	HP:0025434	Reduced circulating CH50 activity	1/1	OMIM:106100
710	SERPING1	HP:0002725	Systemic lupus erythematosus	-	OMIM:120790
710	SERPING1	HP:0002018	Nausea	HP:0040282	ORPHA:100050
710	SERPING1	HP:0002027	Abdominal pain	-	OMIM:106100
710	SERPING1	HP:0002027	Abdominal pain	HP:0040281	ORPHA:100050
710	SERPING1	HP:0040315	Tongue edema	HP:0040281	ORPHA:100050
710	SERPING1	HP:0002014	Diarrhea	-	OMIM:106100
710	SERPING1	HP:0002014	Diarrhea	HP:0040282	ORPHA:100050
710	SERPING1	HP:0002015	Dysphagia	HP:0040282	ORPHA:100050
710	SERPING1	HP:0002013	Vomiting	HP:0040282	ORPHA:100050
710	SERPING1	HP:0002013	Vomiting	-	OMIM:106100
710	SERPING1	HP:0100539	Periorbital edema	2/2	OMIM:106100
710	SERPING1	HP:0002098	Respiratory distress	HP:0040283	ORPHA:100050
710	SERPING1	HP:0002094	Dyspnea	HP:0040282	ORPHA:100050
710	SERPING1	HP:0003477	Peripheral axonal neuropathy	1/1	OMIM:106100
710	SERPING1	HP:0011855	Pharyngeal edema	HP:0040283	ORPHA:100050
710	SERPING1	HP:0011855	Pharyngeal edema	-	OMIM:106100
710	SERPING1	HP:0003401	Paresthesia	HP:0040281	ORPHA:100050
710	SERPING1	HP:0100736	Abnormal soft palate morphology	HP:0040283	ORPHA:100050
710	SERPING1	HP:0100755	Abnormality of salivation	HP:0040282	ORPHA:100050
710	SERPING1	HP:0011971	Dermatographic urticaria	HP:0040281	ORPHA:100050
710	SERPING1	HP:0001025	Urticaria	HP:0040281	ORPHA:100050
710	SERPING1	HP:0100665	Angioedema	-	OMIM:106100
710	SERPING1	HP:0010783	Erythema	-	OMIM:106100
710	SERPING1	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:100050
710	SERPING1	HP:0011463	Childhood onset	2/2	OMIM:106100
710	SERPING1	HP:0011462	Young adult onset	1/1	OMIM:106100
710	SERPING1	HP:0034204	Decreased circulating C1-esterase inhibitor concentration	-	OMIM:106100
710	SERPING1	HP:0040078	Axonal degeneration	1/1	OMIM:106100
710	SERPING1	HP:0045042	Decreased circulating complement C4 concentration	3/3	OMIM:106100
710	SERPING1	HP:0000282	Facial edema	HP:0040281	ORPHA:100050
710	SERPING1	HP:0012252	Abnormal respiratory system morphology	HP:0040281	ORPHA:100050
710	SERPING1	HP:0005225	Intestinal edema	HP:0040281	ORPHA:100050
710	SERPING1	HP:0005225	Intestinal edema	-	OMIM:106100
710	SERPING1	HP:0001609	Hoarse voice	HP:0040283	ORPHA:100050
710	SERPING1	HP:0002960	Autoimmunity	-	OMIM:106100
710	SERPING1	HP:0005348	Inspiratory stridor	HP:0040283	ORPHA:100050
710	SERPING1	HP:0005483	Abnormal epiglottis morphology	HP:0040283	ORPHA:100050
712	C1QA	HP:0000007	Autosomal recessive inheritance	-	OMIM:613652
712	C1QA	HP:0002719	Recurrent infections	-	OMIM:613652
712	C1QA	HP:0002725	Systemic lupus erythematosus	HP:0040283	OMIM:613652
712	C1QA	HP:0000793	Membranoproliferative glomerulonephritis	HP:0040283	OMIM:613652
712	C1QA	HP:0002960	Autoimmunity	-	OMIM:613652
712	C1QA	HP:0005356	Decreased circulating complement factor I concentration	-	OMIM:613652
713	C1QB	HP:0100806	Sepsis	1/3	OMIM:620321
713	C1QB	HP:0007417	Discoid lupus rash	4/4	OMIM:620321
713	C1QB	HP:0001369	Arthritis	1/3	OMIM:620321
713	C1QB	HP:0025300	Malar rash	3/3	OMIM:620321
713	C1QB	HP:0000007	Autosomal recessive inheritance	-	OMIM:620321
713	C1QB	HP:0000155	Oral ulcer	1/1	OMIM:620321
713	C1QB	HP:0025434	Reduced circulating CH50 activity	1/1	OMIM:620321
713	C1QB	HP:0002783	Recurrent lower respiratory tract infections	1/3	OMIM:620321
713	C1QB	HP:0002110	Bronchiectasis	1/3	OMIM:620321
713	C1QB	HP:0003493	Antinuclear antibody positivity	1/3	OMIM:620321
713	C1QB	HP:0003565	Elevated erythrocyte sedimentation rate	1/1	OMIM:620321
713	C1QB	HP:0009710	Chilblains	1/1	OMIM:620321
713	C1QB	HP:0100750	Atelectasis	1/3	OMIM:620321
713	C1QB	HP:0033399	Persistent fever	1/1	OMIM:620321
713	C1QB	HP:0034601	Decreased circulating C1q concentration	1/1	OMIM:620321
713	C1QB	HP:0001041	Facial erythema	1/1	OMIM:620321
713	C1QB	HP:0200029	Vasculitis in the skin	1/3	OMIM:620321
713	C1QB	HP:0020102	Pneumocystis jirovecii pneumonia	1/3	OMIM:620321
713	C1QB	HP:0033476	Extractable nuclear antigen positivity	1/3	OMIM:620321
713	C1QB	HP:0001903	Anemia	1/3	OMIM:620321
713	C1QB	HP:0011463	Childhood onset	4/4	OMIM:620321
713	C1QB	HP:0033040	Anti-Sm antibody positivity	1/3	OMIM:620321
713	C1QB	HP:0002829	Arthralgia	1/1	OMIM:620321
713	C1QB	HP:0002923	Rheumatoid factor positive	2/4	OMIM:620321
713	C1QB	HP:0000403	Recurrent otitis media	1/3	OMIM:620321
713	C1QB	HP:0011227	Elevated circulating C-reactive protein concentration	1/1	OMIM:620321
714	C1QC	HP:0007274	Recurrent bacterial meningitis	1/1	OMIM:620322
714	C1QC	HP:0007417	Discoid lupus rash	2/2	OMIM:620322
714	C1QC	HP:0000007	Autosomal recessive inheritance	-	OMIM:620322
714	C1QC	HP:0032435	Neonatal omphalitis	1/2	OMIM:620322
714	C1QC	HP:0003493	Antinuclear antibody positivity	2/2	OMIM:620322
714	C1QC	HP:0034601	Decreased circulating C1q concentration	3/3	OMIM:620322
714	C1QC	HP:0003623	Neonatal onset	1/2	OMIM:620322
714	C1QC	HP:0003621	Juvenile onset	1/1	OMIM:620322
714	C1QC	HP:0011463	Childhood onset	1/2	OMIM:620322
715	C1R	HP:0001166	Arachnodactyly	HP:0040283	OMIM:130080
715	C1R	HP:0000098	Tall stature	HP:0040283	OMIM:130080
715	C1R	HP:0001373	Joint dislocation	2/25	OMIM:130080
715	C1R	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:75392
715	C1R	HP:0001382	Joint hypermobility	11/24	OMIM:130080
715	C1R	HP:0000023	Inguinal hernia	-	OMIM:130080
715	C1R	HP:0007517	Palmoplantar cutis laxa	-	OMIM:130080
715	C1R	HP:0000006	Autosomal dominant inheritance	-	OMIM:130080
715	C1R	HP:0002650	Scoliosis	9/27	OMIM:130080
715	C1R	HP:0006349	Agenesis of permanent teeth	HP:0040282	ORPHA:75392
715	C1R	HP:0006323	Premature loss of primary teeth	HP:0040283	ORPHA:75392
715	C1R	HP:0006308	Atrophy of alveolar ridges	HP:0040282	ORPHA:75392
715	C1R	HP:0410027	Alveolar bone loss around teeth	-	OMIM:130080
715	C1R	HP:0002761	Generalized joint hypermobility	HP:0040283	OMIM:130080
715	C1R	HP:0002719	Recurrent infections	HP:0040283	OMIM:130080
715	C1R	HP:0002036	Hiatus hernia	1/20	OMIM:130080
715	C1R	HP:0034518	Gingival fragility	20/21	OMIM:130080
715	C1R	HP:0034517	Pretibial hyperpigmentation	24/25	OMIM:130080
715	C1R	HP:0001058	Poor wound healing	-	OMIM:130080
715	C1R	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:75392
715	C1R	HP:0001030	Fragile skin	24/32	OMIM:130080
715	C1R	HP:0001015	Prominent superficial veins	9/20	OMIM:130080
715	C1R	HP:0001075	Atrophic scars	21/36	OMIM:130080
715	C1R	HP:0001075	Atrophic scars	HP:0040281	ORPHA:75392
715	C1R	HP:0000691	Microdontia	HP:0040282	ORPHA:75392
715	C1R	HP:0004322	Short stature	HP:0040281	ORPHA:75392
715	C1R	HP:0000704	Periodontitis	HP:0040281	ORPHA:75392
715	C1R	HP:0000704	Periodontitis	30/34	OMIM:130080
715	C1R	HP:0030816	Gingival recession	29/33	OMIM:130080
715	C1R	HP:0000978	Bruising susceptibility	29/31	OMIM:130080
715	C1R	HP:0000977	Soft skin	-	OMIM:130080
715	C1R	HP:0000974	Hyperextensible skin	HP:0040282	ORPHA:75392
715	C1R	HP:0000974	Hyperextensible skin	20/27	OMIM:130080
715	C1R	HP:0000963	Thin skin	-	OMIM:130080
715	C1R	HP:0002829	Arthralgia	10/24	OMIM:130080
715	C1R	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:75392
715	C1R	HP:0000225	Gingival bleeding	24/28	OMIM:130080
715	C1R	HP:0001537	Umbilical hernia	2/20	OMIM:130080
715	C1R	HP:0031368	Intestinal perforation	-	OMIM:130080
715	C1R	HP:0001609	Hoarse voice	-	OMIM:130080
715	C1R	HP:0006480	Premature loss of teeth	-	OMIM:130080
715	C1R	HP:0000347	Micrognathia	HP:0040283	ORPHA:75392
715	C1R	HP:0002960	Autoimmunity	-	OMIM:130080
715	C1R	HP:0000592	Blue sclerae	-	OMIM:130080
716	C1S	HP:0001373	Joint dislocation	43/53	OMIM:617174
716	C1S	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:75392
716	C1S	HP:0001382	Joint hypermobility	38/56	OMIM:617174
716	C1S	HP:0000023	Inguinal hernia	-	OMIM:617174
716	C1S	HP:0002667	Nephroblastoma	1/36	OMIM:617174
716	C1S	HP:0000006	Autosomal dominant inheritance	-	OMIM:617174
716	C1S	HP:0002650	Scoliosis	14/51	OMIM:617174
716	C1S	HP:0012115	Hepatitis	-	OMIM:613783
716	C1S	HP:0006349	Agenesis of permanent teeth	HP:0040282	ORPHA:75392
716	C1S	HP:0006323	Premature loss of primary teeth	HP:0040283	ORPHA:75392
716	C1S	HP:0006308	Atrophy of alveolar ridges	HP:0040282	ORPHA:75392
716	C1S	HP:0002725	Systemic lupus erythematosus	-	OMIM:613783
716	C1S	HP:0034518	Gingival fragility	26/28	OMIM:617174
716	C1S	HP:0034517	Pretibial hyperpigmentation	50/76	OMIM:617174
716	C1S	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:75392
716	C1S	HP:0001030	Fragile skin	44/52	OMIM:617174
716	C1S	HP:0001015	Prominent superficial veins	14/42	OMIM:617174
716	C1S	HP:0001075	Atrophic scars	HP:0040281	ORPHA:75392
716	C1S	HP:0000691	Microdontia	HP:0040282	ORPHA:75392
716	C1S	HP:0004322	Short stature	HP:0040281	ORPHA:75392
716	C1S	HP:0003003	Colon cancer	2/36	OMIM:617174
716	C1S	HP:0000704	Periodontitis	HP:0040281	ORPHA:75392
716	C1S	HP:0000704	Periodontitis	75/83	OMIM:617174
716	C1S	HP:0000872	Hashimoto thyroiditis	-	OMIM:613783
716	C1S	HP:0030816	Gingival recession	61/65	OMIM:617174
716	C1S	HP:0000978	Bruising susceptibility	58/63	OMIM:617174
716	C1S	HP:0000974	Hyperextensible skin	HP:0040282	ORPHA:75392
716	C1S	HP:0000974	Hyperextensible skin	38/54	OMIM:617174
716	C1S	HP:0000987	Atypical scarring of skin	29/55	OMIM:617174
716	C1S	HP:0002829	Arthralgia	13/39	OMIM:617174
716	C1S	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:75392
716	C1S	HP:0000225	Gingival bleeding	51/58	OMIM:617174
716	C1S	HP:0001537	Umbilical hernia	3/45	OMIM:617174
716	C1S	HP:0000347	Micrognathia	HP:0040283	ORPHA:75392
716	C1S	HP:0005339	Abnormality of complement system	-	OMIM:613783
717	C2	HP:0000007	Autosomal recessive inheritance	-	OMIM:217000
717	C2	HP:0002725	Systemic lupus erythematosus	-	OMIM:217000
717	C2	HP:0000979	Purpura	-	OMIM:217000
718	C3	HP:0003774	Stage 5 chronic kidney disease	8/14	OMIM:612925
718	C3	HP:0000083	Renal insufficiency	-	OMIM:613779
718	C3	HP:0000093	Proteinuria	-	OMIM:612925
718	C3	HP:0000007	Autosomal recessive inheritance	-	OMIM:613779
718	C3	HP:0000006	Autosomal dominant inheritance	-	OMIM:612925
718	C3	HP:0000100	Nephrotic syndrome	-	OMIM:613779
718	C3	HP:0002718	Recurrent bacterial infections	1/1	OMIM:613779
718	C3	HP:0002725	Systemic lupus erythematosus	1/1	OMIM:613779
718	C3	HP:0100519	Anuria	-	OMIM:612925
718	C3	HP:0003593	Infantile onset	2/14	OMIM:612925
718	C3	HP:0003593	Infantile onset	1/1	OMIM:613779
718	C3	HP:0003581	Adult onset	7/14	OMIM:612925
718	C3	HP:0003621	Juvenile onset	2/14	OMIM:612925
718	C3	HP:0005575	Hemolytic-uremic syndrome	-	OMIM:612925
718	C3	HP:0001954	Recurrent fever	1/1	OMIM:613779
718	C3	HP:0001937	Microangiopathic hemolytic anemia	-	OMIM:612925
718	C3	HP:0001903	Anemia	-	OMIM:612925
718	C3	HP:0001919	Acute kidney injury	-	OMIM:612925
718	C3	HP:0011463	Childhood onset	3/14	OMIM:612925
718	C3	HP:0011463	Childhood onset	1/1	OMIM:613779
718	C3	HP:0000793	Membranoproliferative glomerulonephritis	0/1	OMIM:613779
718	C3	HP:0000790	Hematuria	-	OMIM:612925
718	C3	HP:0003138	Increased blood urea nitrogen	-	OMIM:612925
718	C3	HP:0000822	Hypertension	HP:0040282	OMIM:612925
718	C3	HP:0003259	Elevated circulating creatinine concentration	-	OMIM:612925
718	C3	HP:0006532	Recurrent pneumonia	2/2	OMIM:613779
718	C3	HP:0011110	Recurrent tonsillitis	1/1	OMIM:613779
718	C3	HP:0005421	Decreased circulating complement C3 concentration	2/2	OMIM:613779
718	C3	HP:0005421	Decreased circulating complement C3 concentration	14/14	OMIM:612925
718	C3	HP:0001873	Thrombocytopenia	-	OMIM:612925
720	C4A	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
720	C4A	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:117
720	C4A	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:117
720	C4A	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
720	C4A	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:117
720	C4A	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
720	C4A	HP:0001269	Hemiparesis	HP:0040282	ORPHA:117
720	C4A	HP:0001287	Meningitis	HP:0040281	ORPHA:117
720	C4A	HP:0001289	Confusion	HP:0040282	ORPHA:117
720	C4A	HP:0001288	Gait disturbance	HP:0040282	ORPHA:117
720	C4A	HP:0001250	Seizure	HP:0040283	ORPHA:117
720	C4A	HP:0001250	Seizure	HP:0040283	ORPHA:536
720	C4A	HP:0001251	Ataxia	HP:0040283	ORPHA:117
720	C4A	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
720	C4A	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:117
720	C4A	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:117
720	C4A	HP:0000099	Glomerulonephritis	-	OMIM:614380
720	C4A	HP:0000099	Glomerulonephritis	HP:0040284	ORPHA:117
720	C4A	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
720	C4A	HP:0001369	Arthritis	HP:0040282	ORPHA:536
720	C4A	HP:0001369	Arthritis	HP:0040281	ORPHA:117
720	C4A	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:117
720	C4A	HP:0000031	Epididymitis	HP:0040283	ORPHA:117
720	C4A	HP:0033834	Malaise	HP:0040281	ORPHA:536
720	C4A	HP:0012085	Pyuria	HP:0040282	ORPHA:536
720	C4A	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
720	C4A	HP:0025300	Malar rash	HP:0040282	ORPHA:536
720	C4A	HP:0000007	Autosomal recessive inheritance	-	OMIM:614380
720	C4A	HP:0002638	Superficial thrombophlebitis	HP:0040282	ORPHA:117
720	C4A	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:117
720	C4A	HP:0002633	Vasculitis	-	OMIM:614380
720	C4A	HP:0002633	Vasculitis	HP:0040281	ORPHA:117
720	C4A	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
720	C4A	HP:0000155	Oral ulcer	HP:0040281	ORPHA:117
720	C4A	HP:0025434	Reduced circulating CH50 activity	-	OMIM:614380
720	C4A	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:117
720	C4A	HP:0012121	Panuveitis	HP:0040282	ORPHA:117
720	C4A	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:117
720	C4A	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
720	C4A	HP:0002725	Systemic lupus erythematosus	-	OMIM:614380
720	C4A	HP:0002024	Malabsorption	HP:0040283	ORPHA:117
720	C4A	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:117
720	C4A	HP:0002027	Abdominal pain	HP:0040282	ORPHA:117
720	C4A	HP:0003326	Myalgia	HP:0040281	ORPHA:117
720	C4A	HP:0002014	Diarrhea	HP:0040284	ORPHA:117
720	C4A	HP:0002076	Migraine	HP:0040281	ORPHA:117
720	C4A	HP:0002072	Chorea	HP:0040284	ORPHA:536
720	C4A	HP:0002039	Anorexia	HP:0040281	ORPHA:536
720	C4A	HP:0002039	Anorexia	HP:0040283	ORPHA:117
720	C4A	HP:0100584	Endocarditis	HP:0040283	ORPHA:117
720	C4A	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
720	C4A	HP:0002102	Pleuritis	HP:0040283	ORPHA:117
720	C4A	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:117
720	C4A	HP:0002105	Hemoptysis	HP:0040283	ORPHA:117
720	C4A	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
720	C4A	HP:0003401	Paresthesia	HP:0040283	ORPHA:117
720	C4A	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:117
720	C4A	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:117
720	C4A	HP:0002202	Pleural effusion	HP:0040283	ORPHA:117
720	C4A	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:117
720	C4A	HP:0100796	Orchitis	HP:0040281	ORPHA:117
720	C4A	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
720	C4A	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
720	C4A	HP:0100758	Gangrene	HP:0040283	ORPHA:117
720	C4A	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:117
720	C4A	HP:0001061	Acne	HP:0040282	ORPHA:117
720	C4A	HP:0002376	Developmental regression	HP:0040283	ORPHA:117
720	C4A	HP:0002354	Memory impairment	HP:0040283	ORPHA:117
720	C4A	HP:0002321	Vertigo	HP:0040283	ORPHA:117
720	C4A	HP:0002315	Headache	HP:0040282	ORPHA:117
720	C4A	HP:0100653	Optic neuritis	HP:0040283	ORPHA:117
720	C4A	HP:0100654	Retrobulbar optic neuritis	HP:0040283	ORPHA:117
720	C4A	HP:0200034	Papule	HP:0040281	ORPHA:117
720	C4A	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
720	C4A	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:117
720	C4A	HP:0100614	Myositis	HP:0040283	ORPHA:117
720	C4A	HP:0200039	Pustule	HP:0040282	ORPHA:117
720	C4A	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:117
720	C4A	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
720	C4A	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:117
720	C4A	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:117
720	C4A	HP:4000041	AA amyloidosis	HP:0040283	ORPHA:117
720	C4A	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
720	C4A	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
720	C4A	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
720	C4A	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
720	C4A	HP:0000618	Blindness	HP:0040283	ORPHA:117
720	C4A	HP:0000613	Photophobia	HP:0040281	ORPHA:117
720	C4A	HP:0001945	Fever	HP:0040281	ORPHA:117
720	C4A	HP:0001945	Fever	HP:0040281	ORPHA:536
720	C4A	HP:0001954	Recurrent fever	HP:0040283	ORPHA:117
720	C4A	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:117
720	C4A	HP:0000737	Irritability	HP:0040283	ORPHA:117
720	C4A	HP:0000716	Depression	HP:0040283	ORPHA:536
720	C4A	HP:0000708	Atypical behavior	HP:0040283	ORPHA:117
720	C4A	HP:0000790	Hematuria	HP:0040282	ORPHA:536
720	C4A	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:117
720	C4A	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
720	C4A	HP:0100326	Immunologic hypersensitivity	HP:0040282	ORPHA:117
720	C4A	HP:0012819	Myocarditis	HP:0040283	ORPHA:117
720	C4A	HP:0000822	Hypertension	HP:0040282	ORPHA:536
720	C4A	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
720	C4A	HP:0045042	Decreased circulating complement C4 concentration	-	OMIM:614380
720	C4A	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
720	C4A	HP:0045073	Serositis	HP:0040283	ORPHA:536
720	C4A	HP:0003249	Genital ulcers	HP:0040282	ORPHA:117
720	C4A	HP:0000979	Purpura	-	OMIM:614380
720	C4A	HP:0000992	Cutaneous photosensitivity	-	OMIM:614380
720	C4A	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
720	C4A	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
720	C4A	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
720	C4A	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:117
720	C4A	HP:0001596	Alopecia	HP:0040282	ORPHA:536
720	C4A	HP:0002829	Arthralgia	HP:0040282	ORPHA:117
720	C4A	HP:0025532	Positive pathergy test	HP:0040282	ORPHA:117
720	C4A	HP:0012219	Erythema nodosum	HP:0040282	ORPHA:117
720	C4A	HP:0007813	Nongranulomatous uveitis	HP:0040282	ORPHA:117
720	C4A	HP:0012378	Fatigue	HP:0040281	ORPHA:117
720	C4A	HP:0012378	Fatigue	HP:0040281	ORPHA:536
720	C4A	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:117
720	C4A	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:117
720	C4A	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:117
720	C4A	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:117
720	C4A	HP:0001733	Pancreatitis	HP:0040283	ORPHA:117
720	C4A	HP:0001701	Pericarditis	HP:0040283	ORPHA:117
720	C4A	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
720	C4A	HP:0000488	Retinopathy	HP:0040283	ORPHA:117
720	C4A	HP:0011107	Recurrent aphthous stomatitis	HP:0040281	ORPHA:117
720	C4A	HP:0001744	Splenomegaly	HP:0040283	ORPHA:117
720	C4A	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
720	C4A	HP:0000518	Cataract	HP:0040283	ORPHA:117
720	C4A	HP:0001824	Weight loss	HP:0040283	ORPHA:117
720	C4A	HP:0001824	Weight loss	HP:0040281	ORPHA:536
720	C4A	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:117
720	C4A	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
720	C4A	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
720	C4A	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
721	C4B	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
721	C4B	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
721	C4B	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
721	C4B	HP:0001287	Meningitis	-	OMIM:614379
721	C4B	HP:0001250	Seizure	HP:0040283	ORPHA:536
721	C4B	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
721	C4B	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
721	C4B	HP:0001369	Arthritis	HP:0040282	ORPHA:536
721	C4B	HP:0033834	Malaise	HP:0040281	ORPHA:536
721	C4B	HP:0012085	Pyuria	HP:0040282	ORPHA:536
721	C4B	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
721	C4B	HP:0025300	Malar rash	HP:0040282	ORPHA:536
721	C4B	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
721	C4B	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
721	C4B	HP:0002028	Chronic diarrhea	1/1	OMIM:614379
721	C4B	HP:0002099	Asthma	1/1	OMIM:614379
721	C4B	HP:0002072	Chorea	HP:0040284	ORPHA:536
721	C4B	HP:0002039	Anorexia	HP:0040281	ORPHA:536
721	C4B	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
721	C4B	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
721	C4B	HP:0003593	Infantile onset	1/1	OMIM:614379
721	C4B	HP:0200120	Chronic active hepatitis	-	OMIM:614379
721	C4B	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
721	C4B	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
721	C4B	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
721	C4B	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
721	C4B	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
721	C4B	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
721	C4B	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
721	C4B	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
721	C4B	HP:0001945	Fever	HP:0040281	ORPHA:536
721	C4B	HP:0000716	Depression	HP:0040283	ORPHA:536
721	C4B	HP:0000790	Hematuria	HP:0040282	ORPHA:536
721	C4B	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
721	C4B	HP:0000822	Hypertension	HP:0040282	ORPHA:536
721	C4B	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
721	C4B	HP:0045044	Decreased circulating complement C4b concentration	1/1	OMIM:614379
721	C4B	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
721	C4B	HP:0045073	Serositis	HP:0040283	ORPHA:536
721	C4B	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
721	C4B	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
721	C4B	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
721	C4B	HP:0001596	Alopecia	HP:0040282	ORPHA:536
721	C4B	HP:0012378	Fatigue	HP:0040281	ORPHA:536
721	C4B	HP:0006532	Recurrent pneumonia	1/1	OMIM:614379
721	C4B	HP:0000403	Recurrent otitis media	1/1	OMIM:614379
721	C4B	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
721	C4B	HP:0011108	Recurrent sinusitis	1/1	OMIM:614379
721	C4B	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
721	C4B	HP:0001824	Weight loss	HP:0040281	ORPHA:536
721	C4B	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
721	C4B	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
721	C4B	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
726	CAPN5	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
726	CAPN5	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
726	CAPN5	HP:0000006	Autosomal dominant inheritance	-	OMIM:193235
726	CAPN5	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
726	CAPN5	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
726	CAPN5	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
726	CAPN5	HP:0007658	Large hyperpigmented retinal spots	-	OMIM:193235
726	CAPN5	HP:0003621	Juvenile onset	8/19	OMIM:180100
726	CAPN5	HP:0000618	Blindness	20/20	OMIM:193235
726	CAPN5	HP:0000662	Nyctalopia	26/28	OMIM:180100
726	CAPN5	HP:0030667	Peripheral retinal neovascularization	-	OMIM:193235
726	CAPN5	HP:0011463	Childhood onset	3/19	OMIM:180100
726	CAPN5	HP:0011462	Young adult onset	8/19	OMIM:180100
726	CAPN5	HP:0007773	Vitreoretinopathy	-	OMIM:193235
726	CAPN5	HP:0007778	Posterior retinal neovascularization	-	OMIM:193235
726	CAPN5	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
726	CAPN5	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
726	CAPN5	HP:0007902	Vitreous hemorrhage	-	OMIM:193235
726	CAPN5	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
726	CAPN5	HP:0000512	Abnormal electroretinogram	-	OMIM:193235
726	CAPN5	HP:0000575	Scotoma	5/18	OMIM:180100
726	CAPN5	HP:0000554	Uveitis	-	OMIM:193235
726	CAPN5	HP:0000541	Retinal detachment	-	OMIM:193235
726	CAPN5	HP:0000543	Optic disc pallor	1/1	OMIM:180100
726	CAPN5	HP:0000545	Myopia	-	OMIM:180100
727	C5	HP:0007569	Generalized seborrheic dermatitis	-	OMIM:609536
727	C5	HP:0000007	Autosomal recessive inheritance	-	OMIM:609536
727	C5	HP:0025434	Reduced circulating CH50 activity	2/2	OMIM:609536
727	C5	HP:0002041	Intractable diarrhea	-	OMIM:609536
727	C5	HP:0033060	Decreased circulating complement C5 concentration	2/2	OMIM:609536
727	C5	HP:0005381	Recurrent meningococcal disease	2/2	OMIM:609536
727	C5	HP:0005430	Recurrent Neisserial infections	-	OMIM:609536
729	C6	HP:0000007	Autosomal recessive inheritance	-	OMIM:612446
729	C6	HP:0025434	Reduced circulating CH50 activity	3/3	OMIM:612446
729	C6	HP:0033059	Decreased circulating complement C6 concentration	3/3	OMIM:612446
729	C6	HP:0005381	Recurrent meningococcal disease	1/3	OMIM:612446
730	C7	HP:0000007	Autosomal recessive inheritance	-	OMIM:610102
730	C7	HP:0033058	Decreased circulating complement C7 concentration	9/9	OMIM:610102
730	C7	HP:0005381	Recurrent meningococcal disease	-	OMIM:610102
730	C7	HP:0005430	Recurrent Neisserial infections	9/9	OMIM:610102
731	C8A	HP:0001287	Meningitis	-	OMIM:613790
731	C8A	HP:0000007	Autosomal recessive inheritance	-	OMIM:613790
731	C8A	HP:0002725	Systemic lupus erythematosus	-	OMIM:613790
731	C8A	HP:0004434	Decreased circulating complement C8 concentration	-	OMIM:613790
732	C8B	HP:0001287	Meningitis	-	OMIM:613789
732	C8B	HP:0000007	Autosomal recessive inheritance	-	OMIM:613789
732	C8B	HP:0004434	Decreased circulating complement C8 concentration	-	OMIM:613789
732	C8B	HP:0005430	Recurrent Neisserial infections	-	OMIM:613789
735	C9	HP:0000006	Autosomal dominant inheritance	-	OMIM:615591
735	C9	HP:0003581	Adult onset	-	OMIM:615591
735	C9	HP:0000608	Macular degeneration	-	OMIM:615591
735	C9	HP:0012308	Decreased circulating complement C9 concentration	-	OMIM:613825
738	VPS51	HP:0001290	Generalized hypotonia	1/1	OMIM:618606
738	VPS51	HP:0002580	Volvulus	1/1	OMIM:618606
738	VPS51	HP:0002540	Inability to walk	2/2	OMIM:618606
738	VPS51	HP:0001217	Clubbing	1/1	OMIM:618606
738	VPS51	HP:0025336	Delayed ability to sit	1/1	OMIM:618606
738	VPS51	HP:0000007	Autosomal recessive inheritance	-	OMIM:618606
738	VPS51	HP:0001305	Dandy-Walker malformation	1/2	OMIM:618606
738	VPS51	HP:0001320	Cerebellar vermis hypoplasia	1/1	OMIM:618606
738	VPS51	HP:0012110	Hypoplasia of the pons	1/1	OMIM:618606
738	VPS51	HP:0001410	Decreased liver function	1/1	OMIM:618606
738	VPS51	HP:0002019	Constipation	1/1	OMIM:618606
738	VPS51	HP:0002099	Asthma	1/1	OMIM:618606
738	VPS51	HP:0002066	Gait ataxia	-	OMIM:618606
738	VPS51	HP:0002079	Hypoplasia of the corpus callosum	3/3	OMIM:618606
738	VPS51	HP:0002133	Status epilepticus	1/1	OMIM:618606
738	VPS51	HP:0002162	Low posterior hairline	1/1	OMIM:618606
738	VPS51	HP:0010535	Sleep apnea	1/1	OMIM:618606
738	VPS51	HP:0100704	Cerebral visual impairment	1/1	OMIM:618606
738	VPS51	HP:0002202	Pleural effusion	1/1	OMIM:618606
738	VPS51	HP:0002205	Recurrent respiratory infections	1/1	OMIM:618606
738	VPS51	HP:0002280	Enlarged cisterna magna	1/2	OMIM:618606
738	VPS51	HP:0011968	Feeding difficulties	1/1	OMIM:618606
738	VPS51	HP:0011344	Severe global developmental delay	3/3	OMIM:618606
738	VPS51	HP:0006956	Lateral ventricle dilatation	-	OMIM:618606
738	VPS51	HP:0000954	Single transverse palmar crease	1/1	OMIM:618606
738	VPS51	HP:0000969	Edema	1/1	OMIM:618606
738	VPS51	HP:0000286	Epicanthus	1/1	OMIM:618606
738	VPS51	HP:0001572	Macrodontia	-	OMIM:618606
738	VPS51	HP:0000252	Microcephaly	11/11	OMIM:618606
738	VPS51	HP:0000219	Thin upper lip vermilion	1/1	OMIM:618606
738	VPS51	HP:0000218	High palate	11/11	OMIM:618606
738	VPS51	HP:0025517	Hypoplastic hippocampus	1/1	OMIM:618606
738	VPS51	HP:0000215	Thick upper lip vermilion	-	OMIM:618606
738	VPS51	HP:0001508	Failure to thrive	1/1	OMIM:618606
738	VPS51	HP:0000396	Overfolded helix	1/1	OMIM:618606
738	VPS51	HP:0000316	Hypertelorism	-	OMIM:618606
738	VPS51	HP:0000322	Short philtrum	1/2	OMIM:618606
738	VPS51	HP:0000486	Strabismus	3/3	OMIM:618606
738	VPS51	HP:0000463	Anteverted nares	3/3	OMIM:618606
738	VPS51	HP:0000527	Long eyelashes	1/1	OMIM:618606
745	MYRF	HP:0001270	Motor delay	HP:0040284	OMIM:618280
745	MYRF	HP:0001250	Seizure	9/9	OMIM:618113
745	MYRF	HP:0001249	Intellectual disability	HP:0040284	OMIM:618280
745	MYRF	HP:0002566	Intestinal malrotation	1/2	OMIM:618280
745	MYRF	HP:0410259	Hepatopulmonary fusion	1/2	OMIM:618280
745	MYRF	HP:0000062	Ambiguous genitalia	-	OMIM:618280
745	MYRF	HP:0000054	Micropenis	1/2	OMIM:618280
745	MYRF	HP:0000048	Bifid scrotum	-	OMIM:618280
745	MYRF	HP:0000028	Cryptorchidism	2/2	OMIM:618280
745	MYRF	HP:0000006	Autosomal dominant inheritance	-	OMIM:600165
745	MYRF	HP:0000006	Autosomal dominant inheritance	-	OMIM:618280
745	MYRF	HP:0000006	Autosomal dominant inheritance	-	OMIM:618113
745	MYRF	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
745	MYRF	HP:0031134	Cor triatriatum sinister	1/2	OMIM:618280
745	MYRF	HP:0000151	Aplasia of the uterus	-	OMIM:618280
745	MYRF	HP:0007633	Bilateral microphthalmos	-	OMIM:600165
745	MYRF	HP:0031298	Coronary sinus enlargement	1/2	OMIM:618280
745	MYRF	HP:0002780	Bronchomalacia	1/2	OMIM:618280
745	MYRF	HP:0002779	Tracheomalacia	1/2	OMIM:618280
745	MYRF	HP:0000105	Enlarged kidney	1/2	OMIM:618280
745	MYRF	HP:0004691	2-3 toe syndactyly	1/2	OMIM:618280
745	MYRF	HP:0002089	Pulmonary hypoplasia	2/2	OMIM:618280
745	MYRF	HP:0010479	Patent urachus	1/2	OMIM:618280
745	MYRF	HP:0200128	Biventricular hypertrophy	1/2	OMIM:618280
745	MYRF	HP:0010773	Partial anomalous pulmonary venous return	1/2	OMIM:618280
745	MYRF	HP:0003621	Juvenile onset	6/9	OMIM:618113
745	MYRF	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
745	MYRF	HP:0006846	Acute encephalopathy	9/9	OMIM:618113
745	MYRF	HP:0000808	Penoscrotal hypospadias	1/2	OMIM:618280
745	MYRF	HP:0004383	Hypoplastic left heart	-	OMIM:618280
745	MYRF	HP:0034198	Second trimester onset	2/2	OMIM:618280
745	MYRF	HP:0003010	Prolonged bleeding time	1/2	OMIM:618280
745	MYRF	HP:0012741	Unilateral cryptorchidism	1/2	OMIM:618280
745	MYRF	HP:0011463	Childhood onset	3/9	OMIM:618113
745	MYRF	HP:0000776	Congenital diaphragmatic hernia	1/2	OMIM:618280
745	MYRF	HP:0030732	Dysplastic tricuspid valve	-	OMIM:618280
745	MYRF	HP:0004467	Preauricular pit	-	OMIM:187500
745	MYRF	HP:0011599	Mesocardia	1/2	OMIM:618280
745	MYRF	HP:0011626	Scimitar anomaly	2/2	OMIM:618280
745	MYRF	HP:0011611	Interrupted aortic arch	1/2	OMIM:618280
745	MYRF	HP:0001698	Pericardial effusion	1/2	OMIM:618280
745	MYRF	HP:0000337	Broad forehead	-	OMIM:187500
745	MYRF	HP:0001651	Dextrocardia	-	OMIM:618280
745	MYRF	HP:0001649	Tachycardia	1/2	OMIM:618280
745	MYRF	HP:0001643	Patent ductus arteriosus	1/2	OMIM:618280
745	MYRF	HP:0001629	Ventricular septal defect	1/2	OMIM:618280
745	MYRF	HP:0001636	Tetralogy of Fallot	-	OMIM:618280
745	MYRF	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
745	MYRF	HP:0001631	Atrial septal defect	-	OMIM:618280
745	MYRF	HP:0001747	Accessory spleen	-	OMIM:618280
745	MYRF	HP:0000431	Wide nasal bridge	1/2	OMIM:618280
745	MYRF	HP:0000520	Proptosis	-	OMIM:187500
755	CFAP410	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
755	CFAP410	HP:0002463	Language impairment	HP:0040283	ORPHA:803
755	CFAP410	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
755	CFAP410	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
755	CFAP410	HP:0001293	Cranial nerve compression	-	OMIM:131300
755	CFAP410	HP:0001252	Hypotonia	2/7	OMIM:615777
755	CFAP410	HP:0001249	Intellectual disability	5/7	OMIM:615777
755	CFAP410	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
755	CFAP410	HP:0001263	Global developmental delay	-	OMIM:615777
755	CFAP410	HP:0001257	Spasticity	HP:0040282	ORPHA:803
755	CFAP410	HP:0100864	Short femoral neck	-	OMIM:602271
755	CFAP410	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
755	CFAP410	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
755	CFAP410	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
755	CFAP410	HP:0002515	Waddling gait	54/102	OMIM:131300
755	CFAP410	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
755	CFAP410	HP:0001382	Joint hypermobility	-	OMIM:615777
755	CFAP410	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
755	CFAP410	HP:0002694	Sclerosis of skull base	-	OMIM:131300
755	CFAP410	HP:0008897	Postnatal growth retardation	-	OMIM:615777
755	CFAP410	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
755	CFAP410	HP:0001324	Muscle weakness	40/96	OMIM:131300
755	CFAP410	HP:0002657	Spondylometaphyseal dysplasia	-	OMIM:602271
755	CFAP410	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
755	CFAP410	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
755	CFAP410	HP:0000007	Autosomal recessive inheritance	-	OMIM:617547
755	CFAP410	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
755	CFAP410	HP:0000007	Autosomal recessive inheritance	-	OMIM:602271
755	CFAP410	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
755	CFAP410	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
755	CFAP410	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
755	CFAP410	HP:0002650	Scoliosis	8/18	OMIM:602271
755	CFAP410	HP:0002650	Scoliosis	12/14	OMIM:131300
755	CFAP410	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
755	CFAP410	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
755	CFAP410	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
755	CFAP410	HP:0008905	Rhizomelia	7/7	OMIM:602271
755	CFAP410	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
755	CFAP410	HP:0000175	Cleft palate	2/7	OMIM:615777
755	CFAP410	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
755	CFAP410	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
755	CFAP410	HP:0007663	Reduced visual acuity	2/3	OMIM:617547
755	CFAP410	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
755	CFAP410	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
755	CFAP410	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
755	CFAP410	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
755	CFAP410	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
755	CFAP410	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
755	CFAP410	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
755	CFAP410	HP:0002091	Restrictive ventilatory defect	2/11	OMIM:602271
755	CFAP410	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
755	CFAP410	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
755	CFAP410	HP:0003375	Narrow greater sciatic notch	-	OMIM:602271
755	CFAP410	HP:0003388	Easy fatigability	36/76	OMIM:131300
755	CFAP410	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
755	CFAP410	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
755	CFAP410	HP:0003470	Paralysis	HP:0040282	ORPHA:803
755	CFAP410	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
755	CFAP410	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
755	CFAP410	HP:0003411	Proximal femoral metaphyseal irregularity	-	OMIM:602271
755	CFAP410	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
755	CFAP410	HP:0003593	Infantile onset	2/7	OMIM:602271
755	CFAP410	HP:0003577	Congenital onset	1/7	OMIM:602271
755	CFAP410	HP:0003510	Severe short stature	7/7	OMIM:615777
755	CFAP410	HP:0003521	Disproportionate short-trunk short stature	4/7	OMIM:602271
755	CFAP410	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
755	CFAP410	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
755	CFAP410	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
755	CFAP410	HP:0002315	Headache	-	OMIM:131300
755	CFAP410	HP:0004976	Knee dislocation	6/7	OMIM:615777
755	CFAP410	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
755	CFAP410	HP:0009803	Short phalanx of finger	-	OMIM:615777
755	CFAP410	HP:0009763	Limb pain	63/92	OMIM:131300
755	CFAP410	HP:0003623	Neonatal onset	1/7	OMIM:602271
755	CFAP410	HP:0002307	Drooling	HP:0040282	ORPHA:803
755	CFAP410	HP:0003621	Juvenile onset	8/19	OMIM:180100
755	CFAP410	HP:0003621	Juvenile onset	2/7	OMIM:602271
755	CFAP410	HP:0003621	Juvenile onset	1/3	OMIM:617547
755	CFAP410	HP:0003621	Juvenile onset	-	OMIM:131300
755	CFAP410	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
755	CFAP410	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
755	CFAP410	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
755	CFAP410	HP:0000639	Nystagmus	2/7	OMIM:602271
755	CFAP410	HP:6001056	Out-toeing	-	OMIM:131300
755	CFAP410	HP:0000651	Diplopia	-	OMIM:131300
755	CFAP410	HP:0000648	Optic atrophy	7/7	OMIM:602271
755	CFAP410	HP:0000613	Photophobia	-	OMIM:617547
755	CFAP410	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
755	CFAP410	HP:0001956	Truncal obesity	1/3	OMIM:617547
755	CFAP410	HP:0001956	Truncal obesity	2/7	OMIM:615777
755	CFAP410	HP:0000603	Central scotoma	-	OMIM:617547
755	CFAP410	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
755	CFAP410	HP:0001903	Anemia	HP:0040283	OMIM:131300
755	CFAP410	HP:0010049	Short metacarpal	-	OMIM:615777
755	CFAP410	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
755	CFAP410	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
755	CFAP410	HP:0000678	Dental crowding	-	OMIM:615777
755	CFAP410	HP:0000662	Nyctalopia	3/3	OMIM:617547
755	CFAP410	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
755	CFAP410	HP:0000662	Nyctalopia	26/28	OMIM:180100
755	CFAP410	HP:0000670	Carious teeth	-	OMIM:131300
755	CFAP410	HP:0011304	Broad thumb	2/7	OMIM:615777
755	CFAP410	HP:0000668	Hypodontia	-	OMIM:615777
755	CFAP410	HP:0000664	Synophrys	-	OMIM:615777
755	CFAP410	HP:0004322	Short stature	9/18	OMIM:602271
755	CFAP410	HP:0004322	Short stature	1/3	OMIM:617547
755	CFAP410	HP:0004326	Cachexia	HP:0040283	ORPHA:803
755	CFAP410	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
755	CFAP410	HP:0004396	Poor appetite	-	OMIM:131300
755	CFAP410	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
755	CFAP410	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
755	CFAP410	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
755	CFAP410	HP:0003026	Short long bone	7/7	OMIM:615777
755	CFAP410	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
755	CFAP410	HP:0100018	Nuclear cataract	-	OMIM:617547
755	CFAP410	HP:0000767	Pectus excavatum	2/7	OMIM:615777
755	CFAP410	HP:0000768	Pectus carinatum	1/7	OMIM:615777
755	CFAP410	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
755	CFAP410	HP:0000739	Anxiety	HP:0040282	ORPHA:803
755	CFAP410	HP:0000750	Delayed speech and language development	-	OMIM:615777
755	CFAP410	HP:0000716	Depression	HP:0040282	ORPHA:803
755	CFAP410	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
755	CFAP410	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
755	CFAP410	HP:0011463	Childhood onset	3/19	OMIM:180100
755	CFAP410	HP:0011463	Childhood onset	1/7	OMIM:602271
755	CFAP410	HP:0011463	Childhood onset	2/3	OMIM:617547
755	CFAP410	HP:0011462	Young adult onset	8/19	OMIM:180100
755	CFAP410	HP:0011461	Fetal onset	7/7	OMIM:615777
755	CFAP410	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
755	CFAP410	HP:0000774	Narrow chest	3/11	OMIM:602271
755	CFAP410	HP:0000774	Narrow chest	2/7	OMIM:615777
755	CFAP410	HP:0000926	Platyspondyly	-	OMIM:602271
755	CFAP410	HP:0000926	Platyspondyly	1/7	OMIM:615777
755	CFAP410	HP:0003180	Flat acetabular roof	-	OMIM:615777
755	CFAP410	HP:0000907	Anterior rib cupping	-	OMIM:602271
755	CFAP410	HP:0004482	Relative macrocephaly	-	OMIM:615777
755	CFAP410	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
755	CFAP410	HP:0000823	Delayed puberty	-	OMIM:131300
755	CFAP410	HP:0000894	Short clavicles	-	OMIM:615777
755	CFAP410	HP:0030856	Posterior staphyloma	3/3	OMIM:617547
755	CFAP410	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
755	CFAP410	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
755	CFAP410	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
755	CFAP410	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
755	CFAP410	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
755	CFAP410	HP:0000286	Epicanthus	1/7	OMIM:615777
755	CFAP410	HP:0000280	Coarse facial features	2/7	OMIM:615777
755	CFAP410	HP:0007787	Posterior subcapsular cataract	1/3	OMIM:617547
755	CFAP410	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
755	CFAP410	HP:0007737	Bone spicule pigmentation of the retina	2/3	OMIM:617547
755	CFAP410	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
755	CFAP410	HP:0002812	Coxa vara	-	OMIM:602271
755	CFAP410	HP:0002827	Hip dislocation	3/7	OMIM:615777
755	CFAP410	HP:0000252	Microcephaly	-	OMIM:615777
755	CFAP410	HP:0012207	Reduced sperm motility	2/2	OMIM:602271
755	CFAP410	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
755	CFAP410	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
755	CFAP410	HP:0002857	Genu valgum	-	OMIM:131300
755	CFAP410	HP:0001533	Slender build	-	OMIM:131300
755	CFAP410	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
755	CFAP410	HP:0007843	Attenuation of retinal blood vessels	3/3	OMIM:617547
755	CFAP410	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
755	CFAP410	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
755	CFAP410	HP:0007814	Retinal pigment epithelial mottling	3/3	OMIM:617547
755	CFAP410	HP:0007807	Optic nerve compression	-	OMIM:131300
755	CFAP410	HP:0012378	Fatigue	HP:0040282	ORPHA:803
755	CFAP410	HP:0012368	Flat face	7/7	OMIM:615777
755	CFAP410	HP:0005257	Thoracic hypoplasia	-	OMIM:602271
755	CFAP410	HP:0006532	Recurrent pneumonia	1/11	OMIM:602271
755	CFAP410	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
755	CFAP410	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
755	CFAP410	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
755	CFAP410	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
755	CFAP410	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
755	CFAP410	HP:0000365	Hearing impairment	10/67	OMIM:131300
755	CFAP410	HP:0000343	Long philtrum	1/7	OMIM:615777
755	CFAP410	HP:0011001	Increased bone mineral density	-	OMIM:131300
755	CFAP410	HP:0000311	Round face	2/7	OMIM:615777
755	CFAP410	HP:0002970	Genu varum	-	OMIM:615777
755	CFAP410	HP:0000303	Mandibular prognathia	-	OMIM:131300
755	CFAP410	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
755	CFAP410	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
755	CFAP410	HP:0000470	Short neck	1/7	OMIM:615777
755	CFAP410	HP:0001769	Broad foot	HP:0040283	OMIM:615777
755	CFAP410	HP:0001763	Pes planus	1/7	OMIM:615777
755	CFAP410	HP:0001744	Splenomegaly	2/11	OMIM:602271
755	CFAP410	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
755	CFAP410	HP:0000510	Rod-cone dystrophy	20/21	OMIM:602271
755	CFAP410	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
755	CFAP410	HP:0001840	Metatarsus adductus	-	OMIM:615777
755	CFAP410	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
755	CFAP410	HP:0000520	Proptosis	2/4	OMIM:131300
755	CFAP410	HP:0000520	Proptosis	7/7	OMIM:615777
755	CFAP410	HP:0001824	Weight loss	HP:0040282	ORPHA:803
755	CFAP410	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
755	CFAP410	HP:0000575	Scotoma	5/18	OMIM:180100
755	CFAP410	HP:0000592	Blue sclerae	2/7	OMIM:615777
755	CFAP410	HP:0000556	Retinal dystrophy	3/3	OMIM:617547
755	CFAP410	HP:0012531	Pain	HP:0040282	ORPHA:803
755	CFAP410	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
755	CFAP410	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
755	CFAP410	HP:0012514	Lower limb pain	4/4	OMIM:131300
755	CFAP410	HP:0000546	Retinal degeneration	-	OMIM:602271
755	CFAP410	HP:0000548	Cone/cone-rod dystrophy	10/11	OMIM:602271
755	CFAP410	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
755	CFAP410	HP:0000543	Optic disc pallor	1/1	OMIM:180100
755	CFAP410	HP:0000545	Myopia	-	OMIM:180100
760	CA2	HP:0001105	Retinal atrophy	HP:0040283	ORPHA:2785
760	CA2	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:2785
760	CA2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
760	CA2	HP:0001293	Cranial nerve compression	-	OMIM:131300
760	CA2	HP:0001293	Cranial nerve compression	HP:0040282	ORPHA:2785
760	CA2	HP:0001252	Hypotonia	2/7	OMIM:615777
760	CA2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2785
760	CA2	HP:0001249	Intellectual disability	2/2	OMIM:259730
760	CA2	HP:0001249	Intellectual disability	5/7	OMIM:615777
760	CA2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2785
760	CA2	HP:0001263	Global developmental delay	-	OMIM:615777
760	CA2	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:2785
760	CA2	HP:0002515	Waddling gait	54/102	OMIM:131300
760	CA2	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:2785
760	CA2	HP:0002514	Cerebral calcification	2/2	OMIM:259730
760	CA2	HP:0001382	Joint hypermobility	-	OMIM:615777
760	CA2	HP:0002684	Thickened calvaria	HP:0040283	ORPHA:2785
760	CA2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
760	CA2	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:2785
760	CA2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
760	CA2	HP:0001328	Specific learning disability	HP:0040283	ORPHA:2785
760	CA2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
760	CA2	HP:0001324	Muscle weakness	40/96	OMIM:131300
760	CA2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
760	CA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:259730
760	CA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
760	CA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
760	CA2	HP:0002650	Scoliosis	12/14	OMIM:131300
760	CA2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
760	CA2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
760	CA2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
760	CA2	HP:0012181	Entrapment neuropathy	HP:0040284	ORPHA:2785
760	CA2	HP:0000179	Thick lower lip vermilion	HP:0040283	ORPHA:2785
760	CA2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
760	CA2	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:2785
760	CA2	HP:0000160	Narrow mouth	HP:0040283	ORPHA:2785
760	CA2	HP:0000175	Cleft palate	2/7	OMIM:615777
760	CA2	HP:0006335	Persistence of primary teeth	HP:0040283	ORPHA:2785
760	CA2	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2785
760	CA2	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:2785
760	CA2	HP:0001433	Hepatosplenomegaly	-	OMIM:259730
760	CA2	HP:0002092	Pulmonary arterial hypertension	HP:0040284	ORPHA:2785
760	CA2	HP:0003388	Easy fatigability	36/76	OMIM:131300
760	CA2	HP:0002049	Proximal renal tubular acidosis	HP:0040282	ORPHA:2785
760	CA2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
760	CA2	HP:0008153	Periodic hypokalemic paresis	-	OMIM:259730
760	CA2	HP:0002135	Basal ganglia calcification	-	OMIM:259730
760	CA2	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:2785
760	CA2	HP:0002273	Tetraparesis	HP:0040284	ORPHA:2785
760	CA2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:2785
760	CA2	HP:0008341	Distal renal tubular acidosis	2/2	OMIM:259730
760	CA2	HP:0008341	Distal renal tubular acidosis	HP:0040282	ORPHA:2785
760	CA2	HP:0003510	Severe short stature	7/7	OMIM:615777
760	CA2	HP:0002315	Headache	-	OMIM:131300
760	CA2	HP:0004976	Knee dislocation	6/7	OMIM:615777
760	CA2	HP:0009803	Short phalanx of finger	-	OMIM:615777
760	CA2	HP:0009763	Limb pain	63/92	OMIM:131300
760	CA2	HP:0003621	Juvenile onset	-	OMIM:131300
760	CA2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
760	CA2	HP:0005528	Bone marrow hypocellularity	HP:0040283	ORPHA:2785
760	CA2	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:2785
760	CA2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
760	CA2	HP:6001056	Out-toeing	-	OMIM:131300
760	CA2	HP:0000651	Diplopia	-	OMIM:131300
760	CA2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:2785
760	CA2	HP:0001978	Extramedullary hematopoiesis	-	OMIM:259730
760	CA2	HP:0001947	Renal tubular acidosis	HP:0040281	ORPHA:2785
760	CA2	HP:0001942	Metabolic acidosis	HP:0040284	ORPHA:2785
760	CA2	HP:0001956	Truncal obesity	2/7	OMIM:615777
760	CA2	HP:0001903	Anemia	HP:0040283	OMIM:131300
760	CA2	HP:0001903	Anemia	-	OMIM:259730
760	CA2	HP:0001903	Anemia	HP:0040283	ORPHA:2785
760	CA2	HP:0010049	Short metacarpal	-	OMIM:615777
760	CA2	HP:0000678	Dental crowding	-	OMIM:615777
760	CA2	HP:0000692	Tooth malposition	HP:0040283	ORPHA:2785
760	CA2	HP:0000689	Dental malocclusion	-	OMIM:259730
760	CA2	HP:0000670	Carious teeth	-	OMIM:131300
760	CA2	HP:0011304	Broad thumb	2/7	OMIM:615777
760	CA2	HP:0000668	Hypodontia	-	OMIM:615777
760	CA2	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:2785
760	CA2	HP:0000664	Synophrys	-	OMIM:615777
760	CA2	HP:0004322	Short stature	HP:0040282	ORPHA:2785
760	CA2	HP:0004322	Short stature	-	OMIM:259730
760	CA2	HP:0004396	Poor appetite	-	OMIM:131300
760	CA2	HP:0003034	Diaphyseal sclerosis	-	OMIM:259730
760	CA2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
760	CA2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
760	CA2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
760	CA2	HP:0003026	Short long bone	7/7	OMIM:615777
760	CA2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
760	CA2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
760	CA2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:2785
760	CA2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
760	CA2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
760	CA2	HP:0000750	Delayed speech and language development	-	OMIM:615777
760	CA2	HP:0011461	Fetal onset	7/7	OMIM:615777
760	CA2	HP:0000774	Narrow chest	2/7	OMIM:615777
760	CA2	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:2785
760	CA2	HP:0004445	Elliptocytosis	HP:0040283	ORPHA:2785
760	CA2	HP:0004437	Cranial hyperostosis	-	OMIM:259730
760	CA2	HP:0000926	Platyspondyly	1/7	OMIM:615777
760	CA2	HP:0003180	Flat acetabular roof	-	OMIM:615777
760	CA2	HP:0004482	Relative macrocephaly	-	OMIM:615777
760	CA2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
760	CA2	HP:0003148	Elevated serum acid phosphatase	-	OMIM:259730
760	CA2	HP:0003148	Elevated serum acid phosphatase	HP:0040282	ORPHA:2785
760	CA2	HP:0000867	Secondary hyperparathyroidism	HP:0040283	ORPHA:2785
760	CA2	HP:0000823	Delayed puberty	-	OMIM:131300
760	CA2	HP:0000894	Short clavicles	-	OMIM:615777
760	CA2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:2785
760	CA2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
760	CA2	HP:0030812	Enlarged tonsils	HP:0040283	ORPHA:2785
760	CA2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
760	CA2	HP:0000286	Epicanthus	1/7	OMIM:615777
760	CA2	HP:0000280	Coarse facial features	2/7	OMIM:615777
760	CA2	HP:0000278	Retrognathia	HP:0040283	ORPHA:2785
760	CA2	HP:0002827	Hip dislocation	3/7	OMIM:615777
760	CA2	HP:0000252	Microcephaly	-	OMIM:615777
760	CA2	HP:0000248	Brachycephaly	HP:0040283	ORPHA:2785
760	CA2	HP:0000218	High palate	HP:0040283	ORPHA:2785
760	CA2	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:2785
760	CA2	HP:0002857	Genu valgum	-	OMIM:131300
760	CA2	HP:0002870	Obstructive sleep apnea	HP:0040284	ORPHA:2785
760	CA2	HP:0001533	Slender build	-	OMIM:131300
760	CA2	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2785
760	CA2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
760	CA2	HP:0007807	Optic nerve compression	-	OMIM:259730
760	CA2	HP:0007807	Optic nerve compression	-	OMIM:131300
760	CA2	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:2785
760	CA2	HP:0012368	Flat face	7/7	OMIM:615777
760	CA2	HP:0012370	Prominence of the zygomatic bone	HP:0040283	ORPHA:2785
760	CA2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
760	CA2	HP:0002901	Hypocalcemia	HP:0040282	ORPHA:2785
760	CA2	HP:0000365	Hearing impairment	10/67	OMIM:131300
760	CA2	HP:0000343	Long philtrum	1/7	OMIM:615777
760	CA2	HP:0011002	Osteopetrosis	2/2	OMIM:259730
760	CA2	HP:0011002	Osteopetrosis	HP:0040281	ORPHA:2785
760	CA2	HP:0011001	Increased bone mineral density	-	OMIM:131300
760	CA2	HP:0000347	Micrognathia	HP:0040283	ORPHA:2785
760	CA2	HP:0000311	Round face	2/7	OMIM:615777
760	CA2	HP:0002970	Genu varum	-	OMIM:615777
760	CA2	HP:0000303	Mandibular prognathia	-	OMIM:131300
760	CA2	HP:0006641	Prominent floating ribs	HP:0040283	ORPHA:2785
760	CA2	HP:0000405	Conductive hearing impairment	HP:0040284	ORPHA:2785
760	CA2	HP:0000400	Macrotia	HP:0040283	ORPHA:2785
760	CA2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
760	CA2	HP:0000479	Abnormal retinal morphology	HP:0040283	ORPHA:2785
760	CA2	HP:0000470	Short neck	1/7	OMIM:615777
760	CA2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
760	CA2	HP:0001763	Pes planus	1/7	OMIM:615777
760	CA2	HP:0005461	Craniofacial disproportion	HP:0040283	ORPHA:2785
760	CA2	HP:0001840	Metatarsus adductus	-	OMIM:615777
760	CA2	HP:0000520	Proptosis	2/4	OMIM:131300
760	CA2	HP:0000520	Proptosis	7/7	OMIM:615777
760	CA2	HP:0000505	Visual impairment	-	OMIM:259730
760	CA2	HP:0000592	Blue sclerae	2/7	OMIM:615777
760	CA2	HP:0000592	Blue sclerae	HP:0040283	ORPHA:2785
760	CA2	HP:0011220	Prominent forehead	HP:0040283	ORPHA:2785
760	CA2	HP:0000572	Visual loss	-	OMIM:259730
760	CA2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
760	CA2	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:2785
760	CA2	HP:0012514	Lower limb pain	4/4	OMIM:131300
760	CA2	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:2785
760	CA2	HP:0001876	Pancytopenia	HP:0040283	ORPHA:2785
762	CA4	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
762	CA4	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
762	CA4	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
762	CA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
762	CA4	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
762	CA4	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
762	CA4	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
762	CA4	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
762	CA4	HP:0003621	Juvenile onset	8/19	OMIM:180100
762	CA4	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
762	CA4	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
762	CA4	HP:0000618	Blindness	HP:0040281	ORPHA:791
762	CA4	HP:0000613	Photophobia	HP:0040281	ORPHA:791
762	CA4	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
762	CA4	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
762	CA4	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
762	CA4	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
762	CA4	HP:0000662	Nyctalopia	26/28	OMIM:180100
762	CA4	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
762	CA4	HP:0011463	Childhood onset	3/19	OMIM:180100
762	CA4	HP:0011462	Young adult onset	8/19	OMIM:180100
762	CA4	HP:0030786	Photopsia	HP:0040283	ORPHA:791
762	CA4	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
762	CA4	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
762	CA4	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
762	CA4	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
762	CA4	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
762	CA4	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
762	CA4	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
762	CA4	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
762	CA4	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
762	CA4	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
762	CA4	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
762	CA4	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
762	CA4	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
762	CA4	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
762	CA4	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
762	CA4	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
762	CA4	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
762	CA4	HP:0000575	Scotoma	5/18	OMIM:180100
762	CA4	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
762	CA4	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
762	CA4	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
762	CA4	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
762	CA4	HP:0000543	Optic disc pallor	1/1	OMIM:180100
762	CA4	HP:0000545	Myopia	-	OMIM:180100
763	CA5A	HP:0500163	Hypoornithinemia	1/4	OMIM:615751
763	CA5A	HP:0001298	Encephalopathy	1/4	OMIM:615751
763	CA5A	HP:0001254	Lethargy	3/4	OMIM:615751
763	CA5A	HP:0001263	Global developmental delay	HP:0040283	OMIM:615751
763	CA5A	HP:0002572	Episodic vomiting	1/4	OMIM:615751
763	CA5A	HP:0500251	Abnormal urine sebacic acid concentration	1/2	OMIM:615751
763	CA5A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615751
763	CA5A	HP:0002789	Tachypnea	3/4	OMIM:615751
763	CA5A	HP:0003348	Hyperalaninemia	4/4	OMIM:615751
763	CA5A	HP:0005961	Hypoargininemia	1/3	OMIM:615751
763	CA5A	HP:0033111	3-hydroxyisovaleric aciduria	4/4	OMIM:615751
763	CA5A	HP:0002151	Increased circulating lactate concentration	4/4	OMIM:615751
763	CA5A	HP:0033213	Elevated urine suberic acid level	3/4	OMIM:615751
763	CA5A	HP:0003572	Low plasma citrulline	1/3	OMIM:615751
763	CA5A	HP:0008358	Hyperprolinemia	4/4	OMIM:615751
763	CA5A	HP:0003648	Lacticaciduria	4/4	OMIM:615751
763	CA5A	HP:0003623	Neonatal onset	3/4	OMIM:615751
763	CA5A	HP:0033407	Elevated urine acetoacetic acid level	4/4	OMIM:615751
763	CA5A	HP:0001943	Hypoglycemia	4/4	OMIM:615751
763	CA5A	HP:0001942	Metabolic acidosis	4/4	OMIM:615751
763	CA5A	HP:0001950	Respiratory alkalosis	2/4	OMIM:615751
763	CA5A	HP:0001993	Ketoacidosis	-	OMIM:615751
763	CA5A	HP:0001987	Hyperammonemia	4/4	OMIM:615751
763	CA5A	HP:0011463	Childhood onset	1/4	OMIM:615751
763	CA5A	HP:0003128	Lactic acidosis	-	OMIM:615751
763	CA5A	HP:0003228	Hypernatremia	1/4	OMIM:615751
763	CA5A	HP:0003217	Hyperglutaminemia	3/4	OMIM:615751
763	CA5A	HP:0000952	Jaundice	1/4	OMIM:615751
763	CA5A	HP:0040155	Elevated urinary 3-hydroxybutyric acid	4/4	OMIM:615751
763	CA5A	HP:0002919	Ketonuria	-	OMIM:615751
767	CA8	HP:0009878	Cerebellar ataxia associated with quadrupedal gait	4/4	OMIM:613227
767	CA8	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1766
767	CA8	HP:0001256	Intellectual disability, mild	4/4	OMIM:613227
767	CA8	HP:0001250	Seizure	HP:0040282	ORPHA:1766
767	CA8	HP:0001252	Hypotonia	HP:0040281	ORPHA:1766
767	CA8	HP:0001251	Ataxia	4/4	OMIM:613227
767	CA8	HP:0001251	Ataxia	HP:0040281	ORPHA:1766
767	CA8	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1766
767	CA8	HP:0001260	Dysarthria	-	OMIM:613227
767	CA8	HP:0001350	Slurred speech	-	OMIM:613227
767	CA8	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:1766
767	CA8	HP:0000007	Autosomal recessive inheritance	-	OMIM:613227
767	CA8	HP:0001337	Tremor	-	OMIM:613227
767	CA8	HP:0003577	Congenital onset	4/4	OMIM:613227
767	CA8	HP:0004322	Short stature	HP:0040282	ORPHA:1766
767	CA8	HP:0100021	Cerebral palsy	HP:0040282	ORPHA:1766
767	CA8	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:1766
767	CA8	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:1766
767	CA8	HP:0000486	Strabismus	-	OMIM:613227
767	CA8	HP:0000486	Strabismus	HP:0040282	ORPHA:1766
767	CA8	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:1766
767	CA8	HP:0000518	Cataract	HP:0040283	ORPHA:1766
767	CA8	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1766
771	CA12	HP:0000007	Autosomal recessive inheritance	-	OMIM:143860
771	CA12	HP:0002153	Hyperkalemia	-	OMIM:143860
771	CA12	HP:0003593	Infantile onset	7/7	OMIM:143860
771	CA12	HP:0011968	Feeding difficulties	7/7	OMIM:143860
771	CA12	HP:0004906	Hypernatremic dehydration	5/7	OMIM:143860
771	CA12	HP:0012236	Elevated sweat chloride	7/7	OMIM:143860
771	CA12	HP:0001508	Failure to thrive	7/7	OMIM:143860
771	CA12	HP:0002902	Hyponatremia	-	OMIM:143860
773	CACNA1A	HP:0002486	Myotonia	-	OMIM:108500
773	CACNA1A	HP:0002483	Bulbar signs	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0001152	Saccadic smooth pursuit	-	OMIM:108500
773	CACNA1A	HP:0002463	Language impairment	HP:0040283	ORPHA:569
773	CACNA1A	HP:0001125	Transient unilateral blurring of vision	-	OMIM:141500
773	CACNA1A	HP:0002457	Abnormal head movements	HP:0040282	ORPHA:71518
773	CACNA1A	HP:0002442	Dyscalculia	-	OMIM:141500
773	CACNA1A	HP:0007270	Atypical absence seizure	HP:0040282	ORPHA:2382
773	CACNA1A	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0007240	Progressive gait ataxia	HP:0040282	ORPHA:569
773	CACNA1A	HP:0007209	Facial paralysis	HP:0040283	ORPHA:569
773	CACNA1A	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0003743	Genetic anticipation	-	OMIM:183086
773	CACNA1A	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2382
773	CACNA1A	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
773	CACNA1A	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
773	CACNA1A	HP:0001290	Generalized hypotonia	-	OMIM:617106
773	CACNA1A	HP:0001276	Hypertonia	-	OMIM:617106
773	CACNA1A	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:569
773	CACNA1A	HP:0001272	Cerebellar atrophy	1/1	OMIM:183086
773	CACNA1A	HP:0001272	Cerebellar atrophy	-	OMIM:141500
773	CACNA1A	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0001269	Hemiparesis	HP:0040282	ORPHA:569
773	CACNA1A	HP:0001269	Hemiparesis	-	OMIM:141500
773	CACNA1A	HP:0001268	Mental deterioration	HP:0040282	ORPHA:2382
773	CACNA1A	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0001289	Confusion	HP:0040282	ORPHA:569
773	CACNA1A	HP:0001289	Confusion	-	OMIM:141500
773	CACNA1A	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0001284	Areflexia	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0001250	Seizure	HP:0040282	ORPHA:442835
773	CACNA1A	HP:0001250	Seizure	HP:0040283	OMIM:141500
773	CACNA1A	HP:0001250	Seizure	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0001252	Hypotonia	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0001251	Ataxia	4/5	OMIM:183086
773	CACNA1A	HP:0001251	Ataxia	HP:0040281	ORPHA:97
773	CACNA1A	HP:0001251	Ataxia	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0001251	Ataxia	3/5	OMIM:617106
773	CACNA1A	HP:0001251	Ataxia	HP:0040282	ORPHA:71518
773	CACNA1A	HP:0001251	Ataxia	-	OMIM:141500
773	CACNA1A	HP:0002579	Gastrointestinal dysmotility	HP:0040281	ORPHA:2131
773	CACNA1A	HP:0001249	Intellectual disability	HP:0040283	ORPHA:97
773	CACNA1A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2382
773	CACNA1A	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
773	CACNA1A	HP:0001249	Intellectual disability	HP:0040284	ORPHA:569
773	CACNA1A	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0001249	Intellectual disability	5/5	OMIM:617106
773	CACNA1A	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
773	CACNA1A	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0001260	Dysarthria	HP:0040282	ORPHA:569
773	CACNA1A	HP:0001260	Dysarthria	-	OMIM:183086
773	CACNA1A	HP:0001260	Dysarthria	-	OMIM:108500
773	CACNA1A	HP:0001260	Dysarthria	HP:0040282	ORPHA:97
773	CACNA1A	HP:0001260	Dysarthria	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0001260	Dysarthria	HP:0040283	ORPHA:98758
773	CACNA1A	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
773	CACNA1A	HP:0001263	Global developmental delay	5/5	OMIM:617106
773	CACNA1A	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0001259	Coma	HP:0040283	ORPHA:569
773	CACNA1A	HP:0001259	Coma	-	OMIM:141500
773	CACNA1A	HP:0008765	Auditory hallucination	-	OMIM:141500
773	CACNA1A	HP:0410263	Brain imaging abnormality	-	ORPHA:2131
773	CACNA1A	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:2382
773	CACNA1A	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0002527	Falls	HP:0040282	ORPHA:2382
773	CACNA1A	HP:0003829	Typified by incomplete penetrance	-	OMIM:108500
773	CACNA1A	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
773	CACNA1A	HP:0002505	Loss of ambulation	1/5	OMIM:183086
773	CACNA1A	HP:0012075	Personality disorder	HP:0040282	ORPHA:2382
773	CACNA1A	HP:0012044	Seesaw nystagmus	HP:0040283	ORPHA:569
773	CACNA1A	HP:0001371	Flexion contracture	-	OMIM:617106
773	CACNA1A	HP:0001350	Slurred speech	4/5	OMIM:183086
773	CACNA1A	HP:0001347	Hyperreflexia	-	OMIM:617106
773	CACNA1A	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:98758
773	CACNA1A	HP:0032506	Alien limb phenomenon	HP:0040283	ORPHA:569
773	CACNA1A	HP:0031179	Nuchal rigidity	HP:0040283	ORPHA:569
773	CACNA1A	HP:0001332	Dystonia	-	OMIM:108500
773	CACNA1A	HP:0001332	Dystonia	HP:0040282	ORPHA:97
773	CACNA1A	HP:0001332	Dystonia	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0001332	Dystonia	HP:0040283	ORPHA:98758
773	CACNA1A	HP:0001324	Muscle weakness	HP:0040281	ORPHA:569
773	CACNA1A	HP:0001324	Muscle weakness	-	OMIM:108500
773	CACNA1A	HP:0001337	Tremor	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0001337	Tremor	2/5	OMIM:617106
773	CACNA1A	HP:0001337	Tremor	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0001337	Tremor	HP:0040283	OMIM:141500
773	CACNA1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:183086
773	CACNA1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:108500
773	CACNA1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:141500
773	CACNA1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:617106
773	CACNA1A	HP:0001336	Myoclonus	HP:0040282	ORPHA:2382
773	CACNA1A	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0001310	Dysmetria	1/5	OMIM:183086
773	CACNA1A	HP:0001308	Tongue fasciculations	HP:0040282	ORPHA:569
773	CACNA1A	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0012194	Episodic hemiplegia	HP:0040281	ORPHA:2131
773	CACNA1A	HP:0007670	Abnormal vestibulo-ocular reflex	-	OMIM:183086
773	CACNA1A	HP:0008959	Distal upper limb muscle weakness	HP:0040283	ORPHA:569
773	CACNA1A	HP:0031284	Flushing	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0002019	Constipation	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0002017	Nausea and vomiting	2/5	OMIM:183086
773	CACNA1A	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:97
773	CACNA1A	HP:0002014	Diarrhea	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0002015	Dysphagia	-	OMIM:183086
773	CACNA1A	HP:0002015	Dysphagia	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0002015	Dysphagia	HP:0040282	ORPHA:98758
773	CACNA1A	HP:0002013	Vomiting	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0002013	Vomiting	HP:0040282	ORPHA:71518
773	CACNA1A	HP:0002083	Migraine without aura	2/5	OMIM:183086
773	CACNA1A	HP:0002080	Intention tremor	1/5	OMIM:183086
773	CACNA1A	HP:0002080	Intention tremor	HP:0040281	ORPHA:98758
773	CACNA1A	HP:0002098	Respiratory distress	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:2382
773	CACNA1A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0002069	Bilateral tonic-clonic seizure	3/5	OMIM:617106
773	CACNA1A	HP:0002066	Gait ataxia	HP:0040281	ORPHA:98758
773	CACNA1A	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0002063	Rigidity	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0003392	First dorsal interossei muscle weakness	HP:0040284	ORPHA:569
773	CACNA1A	HP:0002078	Truncal ataxia	1/5	OMIM:183086
773	CACNA1A	HP:0002076	Migraine	-	OMIM:108500
773	CACNA1A	HP:0002076	Migraine	HP:0040282	ORPHA:97
773	CACNA1A	HP:0002076	Migraine	HP:0040282	ORPHA:71518
773	CACNA1A	HP:0002076	Migraine	12/12	OMIM:141500
773	CACNA1A	HP:0002077	Migraine with aura	-	OMIM:141500
773	CACNA1A	HP:0002077	Migraine with aura	HP:0040281	ORPHA:569
773	CACNA1A	HP:0002072	Chorea	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0002073	Progressive cerebellar ataxia	5/5	OMIM:183086
773	CACNA1A	HP:0002073	Progressive cerebellar ataxia	-	OMIM:108500
773	CACNA1A	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:98758
773	CACNA1A	HP:0002039	Anorexia	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0100576	Amaurosis fugax	HP:0040284	ORPHA:569
773	CACNA1A	HP:0003487	Babinski sign	HP:0040282	ORPHA:98758
773	CACNA1A	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:2382
773	CACNA1A	HP:0002120	Cerebral cortical atrophy	1/5	OMIM:183086
773	CACNA1A	HP:0002133	Status epilepticus	HP:0040284	ORPHA:569
773	CACNA1A	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
773	CACNA1A	HP:0002133	Status epilepticus	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0002131	Episodic ataxia	-	OMIM:108500
773	CACNA1A	HP:0002104	Apnea	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0002181	Cerebral edema	HP:0040282	ORPHA:569
773	CACNA1A	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:569
773	CACNA1A	HP:0002172	Postural instability	HP:0040282	ORPHA:569
773	CACNA1A	HP:0002172	Postural instability	HP:0040281	ORPHA:98758
773	CACNA1A	HP:0010544	Vertical nystagmus	HP:0040282	ORPHA:98758
773	CACNA1A	HP:0010544	Vertical nystagmus	HP:0040283	ORPHA:569
773	CACNA1A	HP:0010545	Downbeat nystagmus	-	OMIM:108500
773	CACNA1A	HP:0003401	Paresthesia	-	OMIM:108500
773	CACNA1A	HP:0003401	Paresthesia	HP:0040282	ORPHA:569
773	CACNA1A	HP:0002263	Exaggerated cupid's bow	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0003593	Infantile onset	1/5	OMIM:617106
773	CACNA1A	HP:0002273	Tetraparesis	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0003577	Congenital onset	2/5	OMIM:617106
773	CACNA1A	HP:0003587	Insidious onset	1/5	OMIM:183086
773	CACNA1A	HP:0100710	Impulsivity	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0200149	CSF lymphocytic pleiocytosis	HP:0040282	ORPHA:569
773	CACNA1A	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0200134	Epileptic encephalopathy	5/5	OMIM:617106
773	CACNA1A	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0032044	Decreased vigilance	HP:0040283	ORPHA:569
773	CACNA1A	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:617106
773	CACNA1A	HP:0002381	Aphasia	HP:0040283	ORPHA:569
773	CACNA1A	HP:0002381	Aphasia	-	OMIM:141500
773	CACNA1A	HP:0002367	Visual hallucination	-	OMIM:141500
773	CACNA1A	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:2382
773	CACNA1A	HP:0002359	Frequent falls	1/5	OMIM:183086
773	CACNA1A	HP:0002376	Developmental regression	HP:0040283	ORPHA:2382
773	CACNA1A	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
773	CACNA1A	HP:0002344	Progressive neurologic deterioration	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0003676	Progressive	-	OMIM:183086
773	CACNA1A	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2382
773	CACNA1A	HP:0002353	EEG abnormality	-	ORPHA:2131
773	CACNA1A	HP:0002353	EEG abnormality	-	OMIM:617106
773	CACNA1A	HP:0002353	EEG abnormality	HP:0040281	ORPHA:569
773	CACNA1A	HP:0002321	Vertigo	2/5	OMIM:183086
773	CACNA1A	HP:0002321	Vertigo	-	OMIM:108500
773	CACNA1A	HP:0002321	Vertigo	HP:0040282	ORPHA:569
773	CACNA1A	HP:0002321	Vertigo	HP:0040281	ORPHA:97
773	CACNA1A	HP:0002321	Vertigo	HP:0040283	ORPHA:2382
773	CACNA1A	HP:0002321	Vertigo	HP:0040282	ORPHA:71518
773	CACNA1A	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0002317	Unsteady gait	HP:0040281	ORPHA:98758
773	CACNA1A	HP:0002315	Headache	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0002329	Drowsiness	HP:0040282	ORPHA:71518
773	CACNA1A	HP:0002329	Drowsiness	-	OMIM:141500
773	CACNA1A	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
773	CACNA1A	HP:0010835	Dissociated sensory loss	HP:0040282	ORPHA:569
773	CACNA1A	HP:0010833	Spontaneous pain sensation	HP:0040283	ORPHA:569
773	CACNA1A	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:569
773	CACNA1A	HP:0010819	Atonic seizure	HP:0040282	ORPHA:2382
773	CACNA1A	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:2382
773	CACNA1A	HP:0007166	Paroxysmal dyskinesia	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0002301	Hemiplegia	HP:0040283	ORPHA:569
773	CACNA1A	HP:0002301	Hemiplegia	HP:0040282	ORPHA:97
773	CACNA1A	HP:0002301	Hemiplegia	-	OMIM:141500
773	CACNA1A	HP:0003623	Neonatal onset	2/5	OMIM:617106
773	CACNA1A	HP:0002311	Incoordination	2/5	OMIM:183086
773	CACNA1A	HP:0002311	Incoordination	HP:0040281	ORPHA:98758
773	CACNA1A	HP:0002305	Athetosis	1/5	OMIM:617106
773	CACNA1A	HP:0003621	Juvenile onset	4/5	OMIM:183086
773	CACNA1A	HP:0003621	Juvenile onset	8/12	OMIM:141500
773	CACNA1A	HP:0030511	Bradyopsia	HP:0040281	ORPHA:98758
773	CACNA1A	HP:0006855	Cerebellar vermis atrophy	-	OMIM:108500
773	CACNA1A	HP:0006855	Cerebellar vermis atrophy	HP:0040283	ORPHA:97
773	CACNA1A	HP:0000640	Gaze-evoked nystagmus	-	OMIM:108500
773	CACNA1A	HP:0000639	Nystagmus	1/5	OMIM:183086
773	CACNA1A	HP:0000639	Nystagmus	HP:0040281	ORPHA:97
773	CACNA1A	HP:0000639	Nystagmus	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0000639	Nystagmus	HP:0040281	ORPHA:98758
773	CACNA1A	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0000639	Nystagmus	2/5	OMIM:617106
773	CACNA1A	HP:0000639	Nystagmus	-	OMIM:141500
773	CACNA1A	HP:0000651	Diplopia	-	OMIM:108500
773	CACNA1A	HP:0000651	Diplopia	HP:0040282	ORPHA:569
773	CACNA1A	HP:0000651	Diplopia	HP:0040282	ORPHA:97
773	CACNA1A	HP:0000651	Diplopia	HP:0040282	ORPHA:98758
773	CACNA1A	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
773	CACNA1A	HP:0000643	Blepharospasm	HP:0040283	ORPHA:98758
773	CACNA1A	HP:0001944	Dehydration	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0001945	Fever	-	OMIM:141500
773	CACNA1A	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0004322	Short stature	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0004305	Involuntary movements	HP:0040282	ORPHA:569
773	CACNA1A	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0031931	Ocular flutter	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0000752	Hyperactivity	HP:0040282	ORPHA:2382
773	CACNA1A	HP:0000763	Sensory neuropathy	-	OMIM:183086
773	CACNA1A	HP:0000737	Irritability	HP:0040282	ORPHA:2382
773	CACNA1A	HP:0000737	Irritability	HP:0040282	ORPHA:71518
773	CACNA1A	HP:0000739	Anxiety	-	OMIM:141500
773	CACNA1A	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
773	CACNA1A	HP:0000741	Apathy	HP:0040283	ORPHA:2382
773	CACNA1A	HP:0000741	Apathy	HP:0040282	ORPHA:71518
773	CACNA1A	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:2382
773	CACNA1A	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0000717	Autism	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0000712	Emotional lability	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0000713	Agitation	-	OMIM:141500
773	CACNA1A	HP:0000729	Autistic behavior	HP:0040282	ORPHA:2382
773	CACNA1A	HP:0000709	Psychosis	HP:0040283	ORPHA:2382
773	CACNA1A	HP:0000709	Psychosis	-	OMIM:141500
773	CACNA1A	HP:0000708	Atypical behavior	HP:0040283	ORPHA:97
773	CACNA1A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2382
773	CACNA1A	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0011499	Mydriasis	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0011468	Facial tics	HP:0040282	ORPHA:569
773	CACNA1A	HP:0011462	Young adult onset	1/5	OMIM:183086
773	CACNA1A	HP:0011462	Young adult onset	4/12	OMIM:141500
773	CACNA1A	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
773	CACNA1A	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:2382
773	CACNA1A	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0030786	Photopsia	HP:0040282	ORPHA:569
773	CACNA1A	HP:0003270	Abdominal distention	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0045074	Thin eyebrow	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0030842	Choking episodes	HP:0040282	ORPHA:98758
773	CACNA1A	HP:0000980	Pallor	HP:0040282	ORPHA:71518
773	CACNA1A	HP:0000980	Pallor	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0011675	Arrhythmia	HP:0040284	ORPHA:2131
773	CACNA1A	HP:0000297	Facial hypotonia	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0005135	Abnormal T-wave	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0007772	Impaired smooth pursuit	-	OMIM:183086
773	CACNA1A	HP:0012229	CSF pleocytosis	HP:0040282	ORPHA:569
773	CACNA1A	HP:0032649	Skewfoot	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0032660	Convulsive status epilepticus	4/5	OMIM:617106
773	CACNA1A	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
773	CACNA1A	HP:0002835	Aspiration	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:569
773	CACNA1A	HP:0000365	Hearing impairment	HP:0040282	ORPHA:569
773	CACNA1A	HP:0000360	Tinnitus	-	OMIM:108500
773	CACNA1A	HP:0000360	Tinnitus	HP:0040283	ORPHA:569
773	CACNA1A	HP:0000360	Tinnitus	HP:0040282	ORPHA:97
773	CACNA1A	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040281	ORPHA:2131
773	CACNA1A	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0032792	Tonic seizure	1/5	OMIM:617106
773	CACNA1A	HP:0000348	High forehead	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0000348	High forehead	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0032794	Myoclonic seizure	2/5	OMIM:617106
773	CACNA1A	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:2131
773	CACNA1A	HP:0011196	EEG with focal sharp waves	HP:0040284	ORPHA:569
773	CACNA1A	HP:0011195	EEG with focal sharp slow waves	HP:0040281	ORPHA:2382
773	CACNA1A	HP:0011199	EEG with generalized sharp slow waves	HP:0040283	ORPHA:569
773	CACNA1A	HP:0011172	Complex febrile seizure	HP:0040282	ORPHA:569
773	CACNA1A	HP:0011157	Focal sensory seizure	HP:0040281	ORPHA:569
773	CACNA1A	HP:0011167	Focal tonic seizure	1/5	OMIM:617106
773	CACNA1A	HP:0011153	Focal motor seizure	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:569
773	CACNA1A	HP:0007979	Gaze-evoked horizontal nystagmus	3/5	OMIM:183086
773	CACNA1A	HP:0007979	Gaze-evoked horizontal nystagmus	HP:0040281	ORPHA:98758
773	CACNA1A	HP:0007979	Gaze-evoked horizontal nystagmus	HP:0040283	ORPHA:569
773	CACNA1A	HP:0032901	Focal pedal automatism seizure	HP:0040282	ORPHA:569
773	CACNA1A	HP:0032900	Focal manual automatism seizure	HP:0040282	ORPHA:569
773	CACNA1A	HP:0000486	Strabismus	1/5	OMIM:617106
773	CACNA1A	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:2131
773	CACNA1A	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0000473	Torticollis	HP:0040283	ORPHA:97
773	CACNA1A	HP:0000473	Torticollis	HP:0040281	ORPHA:71518
773	CACNA1A	HP:0001751	Abnormal vestibular function	-	OMIM:108500
773	CACNA1A	HP:0012508	Metamorphopsia	HP:0040282	ORPHA:569
773	CACNA1A	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
773	CACNA1A	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:98758
773	CACNA1A	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
773	CACNA1A	HP:0000575	Scotoma	HP:0040282	ORPHA:569
773	CACNA1A	HP:0000577	Exotropia	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
773	CACNA1A	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0000565	Esotropia	HP:0040282	ORPHA:2131
773	CACNA1A	HP:0000565	Esotropia	-	OMIM:617106
773	CACNA1A	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
774	CACNA1B	HP:0002487	Hyperkinetic movements	-	OMIM:618497
774	CACNA1B	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0003763	Bruxism	1/3	OMIM:618497
774	CACNA1B	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
774	CACNA1B	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
774	CACNA1B	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0001250	Seizure	HP:0040282	ORPHA:442835
774	CACNA1B	HP:0001250	Seizure	-	OMIM:618497
774	CACNA1B	HP:0001252	Hypotonia	6/6	OMIM:618497
774	CACNA1B	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
774	CACNA1B	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
774	CACNA1B	HP:0001266	Choreoathetosis	3/6	OMIM:618497
774	CACNA1B	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
774	CACNA1B	HP:0001263	Global developmental delay	6/6	OMIM:618497
774	CACNA1B	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0002540	Inability to walk	-	OMIM:618497
774	CACNA1B	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
774	CACNA1B	HP:0001332	Dystonia	5/6	OMIM:618497
774	CACNA1B	HP:0001344	Absent speech	-	OMIM:618497
774	CACNA1B	HP:0000007	Autosomal recessive inheritance	-	OMIM:618497
774	CACNA1B	HP:0001337	Tremor	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0001336	Myoclonus	6/6	OMIM:618497
774	CACNA1B	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0012171	Stereotypical hand wringing	1/6	OMIM:618497
774	CACNA1B	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0002020	Gastroesophageal reflux	3/6	OMIM:618497
774	CACNA1B	HP:0002069	Bilateral tonic-clonic seizure	4/6	OMIM:618497
774	CACNA1B	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0002059	Cerebral atrophy	1/5	OMIM:618497
774	CACNA1B	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
774	CACNA1B	HP:0003593	Infantile onset	4/5	OMIM:618497
774	CACNA1B	HP:0100704	Cerebral visual impairment	3/6	OMIM:618497
774	CACNA1B	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0002205	Recurrent respiratory infections	5/5	OMIM:618497
774	CACNA1B	HP:0200134	Epileptic encephalopathy	6/6	OMIM:618497
774	CACNA1B	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0011968	Feeding difficulties	6/6	OMIM:618497
774	CACNA1B	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
774	CACNA1B	HP:0002376	Developmental regression	5/6	OMIM:618497
774	CACNA1B	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
774	CACNA1B	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0000639	Nystagmus	2/6	OMIM:618497
774	CACNA1B	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
774	CACNA1B	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0004322	Short stature	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
774	CACNA1B	HP:0000717	Autism	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0011463	Childhood onset	1/5	OMIM:618497
774	CACNA1B	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
774	CACNA1B	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
774	CACNA1B	HP:0011097	Epileptic spasm	4/6	OMIM:618497
774	CACNA1B	HP:0032792	Tonic seizure	3/6	OMIM:618497
774	CACNA1B	HP:0000348	High forehead	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0032794	Myoclonic seizure	5/6	OMIM:618497
774	CACNA1B	HP:0000405	Conductive hearing impairment	1/3	OMIM:618497
774	CACNA1B	HP:0000486	Strabismus	3/6	OMIM:618497
774	CACNA1B	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0000463	Anteverted nares	1/6	OMIM:618497
774	CACNA1B	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0005484	Secondary microcephaly	6/6	OMIM:618497
774	CACNA1B	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
774	CACNA1B	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
774	CACNA1B	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
774	CACNA1B	HP:0001883	Talipes	1/6	OMIM:618497
774	CACNA1B	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
775	CACNA1C	HP:0001159	Syndactyly	0/15	OMIM:618447
775	CACNA1C	HP:0001195	Single umbilical artery	2/17	OMIM:601005
775	CACNA1C	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
775	CACNA1C	HP:0001270	Motor delay	17/24	OMIM:620029
775	CACNA1C	HP:0001279	Syncope	HP:0040282	ORPHA:101016
775	CACNA1C	HP:0001279	Syncope	-	OMIM:611875
775	CACNA1C	HP:0001279	Syncope	HP:0040282	ORPHA:130
775	CACNA1C	HP:0001279	Syncope	4/15	OMIM:618447
775	CACNA1C	HP:0001250	Seizure	3/17	OMIM:601005
775	CACNA1C	HP:0001250	Seizure	HP:0040283	ORPHA:101016
775	CACNA1C	HP:0001250	Seizure	12/25	OMIM:620029
775	CACNA1C	HP:0001252	Hypotonia	7/17	OMIM:601005
775	CACNA1C	HP:0001252	Hypotonia	15/22	OMIM:620029
775	CACNA1C	HP:0001249	Intellectual disability	4/17	OMIM:601005
775	CACNA1C	HP:0001249	Intellectual disability	-	OMIM:620029
775	CACNA1C	HP:0001249	Intellectual disability	0/8	OMIM:618447
775	CACNA1C	HP:0001263	Global developmental delay	4/17	OMIM:601005
775	CACNA1C	HP:0001263	Global developmental delay	11/11	OMIM:620029
775	CACNA1C	HP:0007359	Focal-onset seizure	1/1	OMIM:620029
775	CACNA1C	HP:0001371	Flexion contracture	1/1	OMIM:620029
775	CACNA1C	HP:0008897	Postnatal growth retardation	1/1	OMIM:620029
775	CACNA1C	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
775	CACNA1C	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
775	CACNA1C	HP:0000006	Autosomal dominant inheritance	-	OMIM:601005
775	CACNA1C	HP:0000006	Autosomal dominant inheritance	-	OMIM:620029
775	CACNA1C	HP:0000006	Autosomal dominant inheritance	-	OMIM:618447
775	CACNA1C	HP:0000006	Autosomal dominant inheritance	-	OMIM:611875
775	CACNA1C	HP:0000160	Narrow mouth	1/1	OMIM:620029
775	CACNA1C	HP:0008936	Axial hypotonia	1/1	OMIM:620029
775	CACNA1C	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
775	CACNA1C	HP:0002719	Recurrent infections	8/17	OMIM:601005
775	CACNA1C	HP:0002714	Downturned corners of mouth	1/1	OMIM:620029
775	CACNA1C	HP:0002721	Immunodeficiency	0/7	OMIM:618447
775	CACNA1C	HP:0002025	Anal stenosis	1/1	OMIM:620029
775	CACNA1C	HP:0002020	Gastroesophageal reflux	1/1	OMIM:620029
775	CACNA1C	HP:0002019	Constipation	1/1	OMIM:620029
775	CACNA1C	HP:0002015	Dysphagia	1/1	OMIM:620029
775	CACNA1C	HP:0002007	Frontal bossing	1/1	OMIM:620029
775	CACNA1C	HP:0002080	Intention tremor	2/25	OMIM:620029
775	CACNA1C	HP:0002092	Pulmonary arterial hypertension	1/1	OMIM:620029
775	CACNA1C	HP:0002092	Pulmonary arterial hypertension	3/17	OMIM:601005
775	CACNA1C	HP:0002090	Pneumonia	HP:0040283	OMIM:601005
775	CACNA1C	HP:0002061	Lower limb spasticity	1/22	OMIM:620029
775	CACNA1C	HP:0002045	Hypothermia	5/17	OMIM:601005
775	CACNA1C	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
775	CACNA1C	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
775	CACNA1C	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
775	CACNA1C	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
775	CACNA1C	HP:0004756	Ventricular tachycardia	12/17	OMIM:601005
775	CACNA1C	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
775	CACNA1C	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
775	CACNA1C	HP:0011939	3-4 finger cutaneous syndactyly	1/1	OMIM:620029
775	CACNA1C	HP:0002194	Delayed gross motor development	1/1	OMIM:620029
775	CACNA1C	HP:0002172	Postural instability	8/19	OMIM:620029
775	CACNA1C	HP:0010536	Central sleep apnea	1/1	OMIM:620029
775	CACNA1C	HP:0003593	Infantile onset	1/1	OMIM:620029
775	CACNA1C	HP:0003581	Adult onset	2/7	OMIM:618447
775	CACNA1C	HP:0002209	Sparse scalp hair	2/2	OMIM:620029
775	CACNA1C	HP:0007018	Attention deficit hyperactivity disorder	3/25	OMIM:620029
775	CACNA1C	HP:0003623	Neonatal onset	1/1	OMIM:620029
775	CACNA1C	HP:0003621	Juvenile onset	5/7	OMIM:618447
775	CACNA1C	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
775	CACNA1C	HP:0001943	Hypoglycemia	7/17	OMIM:601005
775	CACNA1C	HP:0000609	Optic nerve hypoplasia	1/1	OMIM:620029
775	CACNA1C	HP:0000691	Microdontia	17/17	OMIM:601005
775	CACNA1C	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
775	CACNA1C	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
775	CACNA1C	HP:0004308	Ventricular arrhythmia	-	OMIM:611875
775	CACNA1C	HP:0012725	Cutaneous syndactyly	17/17	OMIM:601005
775	CACNA1C	HP:0012725	Cutaneous syndactyly	1/1	OMIM:620029
775	CACNA1C	HP:0000750	Delayed speech and language development	1/1	OMIM:620029
775	CACNA1C	HP:0000717	Autism	10/17	OMIM:601005
775	CACNA1C	HP:0005709	2-3 toe cutaneous syndactyly	1/1	OMIM:620029
775	CACNA1C	HP:0003186	Inverted nipples	1/1	OMIM:620029
775	CACNA1C	HP:0004467	Preauricular pit	-	OMIM:187500
775	CACNA1C	HP:0000821	Hypothyroidism	2/17	OMIM:601005
775	CACNA1C	HP:0010307	Stridor	1/1	OMIM:620029
775	CACNA1C	HP:0008081	Pes valgus	2/14	OMIM:620029
775	CACNA1C	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
775	CACNA1C	HP:0012272	J wave	-	OMIM:611875
775	CACNA1C	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
775	CACNA1C	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
775	CACNA1C	HP:0005110	Atrial fibrillation	-	OMIM:611875
775	CACNA1C	HP:0012232	Shortened QT interval	-	OMIM:611875
775	CACNA1C	HP:0000219	Thin upper lip vermilion	-	OMIM:601005
775	CACNA1C	HP:0000219	Thin upper lip vermilion	1/1	OMIM:620029
775	CACNA1C	HP:0000233	Thin vermilion border	1/1	OMIM:620029
775	CACNA1C	HP:0002870	Obstructive sleep apnea	1/1	OMIM:620029
775	CACNA1C	HP:0012389	Appendicular hypotonia	1/1	OMIM:620029
775	CACNA1C	HP:0012385	Camptodactyly	1/1	OMIM:620029
775	CACNA1C	HP:0012387	Bronchitis	HP:0040283	OMIM:601005
775	CACNA1C	HP:0001601	Laryngomalacia	1/1	OMIM:620029
775	CACNA1C	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
775	CACNA1C	HP:0005184	Prolonged QTc interval	15/15	OMIM:618447
775	CACNA1C	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
775	CACNA1C	HP:0002901	Hypocalcemia	6/17	OMIM:601005
775	CACNA1C	HP:0000365	Hearing impairment	-	ORPHA:101016
775	CACNA1C	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
775	CACNA1C	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
775	CACNA1C	HP:0001688	Sinus bradycardia	1/8	OMIM:618447
775	CACNA1C	HP:0000369	Low-set ears	1/1	OMIM:620029
775	CACNA1C	HP:0001699	Sudden death	-	OMIM:601005
775	CACNA1C	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
775	CACNA1C	HP:0000337	Broad forehead	-	OMIM:187500
775	CACNA1C	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
775	CACNA1C	HP:0001664	Torsade de pointes	1/46	OMIM:115000
775	CACNA1C	HP:0032792	Tonic seizure	1/1	OMIM:620029
775	CACNA1C	HP:0001678	Atrioventricular block	16/17	OMIM:601005
775	CACNA1C	HP:0000347	Micrognathia	1/1	OMIM:620029
775	CACNA1C	HP:0032794	Myoclonic seizure	1/1	OMIM:620029
775	CACNA1C	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
775	CACNA1C	HP:0001643	Patent ductus arteriosus	10/17	OMIM:601005
775	CACNA1C	HP:0000311	Round face	1/1	OMIM:620029
775	CACNA1C	HP:0000311	Round face	-	OMIM:601005
775	CACNA1C	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
775	CACNA1C	HP:0001645	Sudden cardiac death	-	OMIM:115000
775	CACNA1C	HP:0001645	Sudden cardiac death	-	OMIM:611875
775	CACNA1C	HP:0001645	Sudden cardiac death	1/8	OMIM:618447
775	CACNA1C	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
775	CACNA1C	HP:0001663	Ventricular fibrillation	1/7	OMIM:618447
775	CACNA1C	HP:0001663	Ventricular fibrillation	-	OMIM:115000
775	CACNA1C	HP:0001662	Bradycardia	16/17	OMIM:601005
775	CACNA1C	HP:0001657	Prolonged QT interval	2/19	OMIM:620029
775	CACNA1C	HP:0001657	Prolonged QT interval	17/17	OMIM:601005
775	CACNA1C	HP:0001655	Patent foramen ovale	5/17	OMIM:601005
775	CACNA1C	HP:0001629	Ventricular septal defect	3/17	OMIM:601005
775	CACNA1C	HP:0001640	Cardiomegaly	6/17	OMIM:601005
775	CACNA1C	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
775	CACNA1C	HP:0001636	Tetralogy of Fallot	1/17	OMIM:601005
775	CACNA1C	HP:0031628	Aborted sudden cardiac death	1/8	OMIM:618447
775	CACNA1C	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
775	CACNA1C	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
775	CACNA1C	HP:0005280	Depressed nasal bridge	-	OMIM:601005
775	CACNA1C	HP:0005280	Depressed nasal bridge	2/2	OMIM:620029
775	CACNA1C	HP:0001763	Pes planus	2/14	OMIM:620029
775	CACNA1C	HP:0001762	Talipes equinovarus	1/1	OMIM:620029
775	CACNA1C	HP:0000520	Proptosis	1/1	OMIM:620029
775	CACNA1C	HP:0000520	Proptosis	-	OMIM:187500
775	CACNA1C	HP:0000586	Shallow orbits	1/1	OMIM:620029
776	CACNA1D	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:369929
776	CACNA1D	HP:0001279	Syncope	2/6	OMIM:614896
776	CACNA1D	HP:0001250	Seizure	HP:0040281	ORPHA:369929
776	CACNA1D	HP:0001249	Intellectual disability	1/2	OMIM:615474
776	CACNA1D	HP:0001263	Global developmental delay	2/2	OMIM:615474
776	CACNA1D	HP:0001263	Global developmental delay	HP:0040281	ORPHA:369929
776	CACNA1D	HP:0001258	Spastic paraplegia	HP:0040282	ORPHA:369929
776	CACNA1D	HP:0001257	Spasticity	1/2	OMIM:615474
776	CACNA1D	HP:0002510	Spastic tetraplegia	1/2	OMIM:615474
776	CACNA1D	HP:0000007	Autosomal recessive inheritance	-	OMIM:614896
776	CACNA1D	HP:0000006	Autosomal dominant inheritance	-	OMIM:615474
776	CACNA1D	HP:0003351	Decreased circulating renin concentration	2/2	OMIM:615474
776	CACNA1D	HP:0002018	Nausea	HP:0040283	ORPHA:369929
776	CACNA1D	HP:0002092	Pulmonary arterial hypertension	1/2	OMIM:615474
776	CACNA1D	HP:0002092	Pulmonary arterial hypertension	HP:0040282	ORPHA:369929
776	CACNA1D	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:615474
776	CACNA1D	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:369929
776	CACNA1D	HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	-	ORPHA:369929
776	CACNA1D	HP:0011736	Primary hyperaldosteronism	1/2	OMIM:615474
776	CACNA1D	HP:0011706	Second degree atrioventricular block	HP:0040282	ORPHA:369929
776	CACNA1D	HP:0011706	Second degree atrioventricular block	1/2	OMIM:615474
776	CACNA1D	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:369929
776	CACNA1D	HP:0008221	Adrenal hyperplasia	HP:0040284	ORPHA:369929
776	CACNA1D	HP:0003577	Congenital onset	2/2	OMIM:615474
776	CACNA1D	HP:0003577	Congenital onset	6/6	OMIM:614896
776	CACNA1D	HP:0100704	Cerebral visual impairment	1/2	OMIM:615474
776	CACNA1D	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:369929
776	CACNA1D	HP:0200114	Metabolic alkalosis	HP:0040282	ORPHA:369929
776	CACNA1D	HP:0200114	Metabolic alkalosis	1/2	OMIM:615474
776	CACNA1D	HP:0200128	Biventricular hypertrophy	1/2	OMIM:615474
776	CACNA1D	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:369929
776	CACNA1D	HP:0002315	Headache	HP:0040283	ORPHA:369929
776	CACNA1D	HP:0025074	Abnormal QRS complex	0/6	OMIM:614896
776	CACNA1D	HP:0002305	Athetosis	1/2	OMIM:615474
776	CACNA1D	HP:0002305	Athetosis	HP:0040282	ORPHA:369929
776	CACNA1D	HP:0031862	Increased heart rate variability	6/6	OMIM:614896
776	CACNA1D	HP:0001959	Polydipsia	HP:0040282	ORPHA:369929
776	CACNA1D	HP:0011410	Caesarean section	HP:0040282	ORPHA:369929
776	CACNA1D	HP:0100021	Cerebral palsy	2/2	OMIM:615474
776	CACNA1D	HP:0100021	Cerebral palsy	HP:0040281	ORPHA:369929
776	CACNA1D	HP:0000787	Nephrolithiasis	1/2	OMIM:615474
776	CACNA1D	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:369929
776	CACNA1D	HP:0000859	Increased circulating aldosterone concentration	HP:0040280	ORPHA:369929
776	CACNA1D	HP:0000822	Hypertension	2/2	OMIM:615474
776	CACNA1D	HP:0000822	Hypertension	HP:0040280	ORPHA:369929
776	CACNA1D	HP:0040084	Abnormal circulating renin concentration	HP:0040280	ORPHA:369929
776	CACNA1D	HP:0100285	EMG: impaired neuromuscular transmission	HP:0040282	ORPHA:369929
776	CACNA1D	HP:0002900	Hypokalemia	2/2	OMIM:615474
776	CACNA1D	HP:0002900	Hypokalemia	HP:0040281	ORPHA:369929
776	CACNA1D	HP:0000365	Hearing impairment	6/6	OMIM:614896
776	CACNA1D	HP:0000360	Tinnitus	HP:0040283	ORPHA:369929
776	CACNA1D	HP:0032794	Myoclonic seizure	1/2	OMIM:615474
776	CACNA1D	HP:0001662	Bradycardia	6/6	OMIM:614896
776	CACNA1D	HP:0001655	Patent foramen ovale	1/2	OMIM:615474
776	CACNA1D	HP:0001629	Ventricular septal defect	1/2	OMIM:615474
776	CACNA1D	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:369929
776	CACNA1D	HP:0011166	Focal myoclonic seizure	HP:0040282	ORPHA:369929
776	CACNA1D	HP:0001712	Left ventricular hypertrophy	1/2	OMIM:615474
776	CACNA1D	HP:0001714	Ventricular hypertrophy	HP:0040281	ORPHA:369929
776	CACNA1D	HP:0000421	Epistaxis	HP:0040283	ORPHA:369929
777	CACNA1E	HP:0002487	Hyperkinetic movements	-	OMIM:618285
777	CACNA1E	HP:0007371	Corpus callosum atrophy	-	OMIM:618285
777	CACNA1E	HP:0002540	Inability to walk	21/24	OMIM:618285
777	CACNA1E	HP:0002521	Hypsarrhythmia	-	OMIM:618285
777	CACNA1E	HP:0002510	Spastic tetraplegia	16/30	OMIM:618285
777	CACNA1E	HP:0001347	Hyperreflexia	-	OMIM:618285
777	CACNA1E	HP:0001332	Dystonia	12/30	OMIM:618285
777	CACNA1E	HP:0001344	Absent speech	21/24	OMIM:618285
777	CACNA1E	HP:0000006	Autosomal dominant inheritance	-	OMIM:618285
777	CACNA1E	HP:0001336	Myoclonus	-	OMIM:618285
777	CACNA1E	HP:0008936	Axial hypotonia	30/30	OMIM:618285
777	CACNA1E	HP:0002120	Cerebral cortical atrophy	-	OMIM:618285
777	CACNA1E	HP:0002133	Status epilepticus	2/30	OMIM:618285
777	CACNA1E	HP:0100704	Cerebral visual impairment	-	OMIM:618285
777	CACNA1E	HP:0200134	Epileptic encephalopathy	-	OMIM:618285
777	CACNA1E	HP:0002376	Developmental regression	9/30	OMIM:618285
777	CACNA1E	HP:0002353	EEG abnormality	-	OMIM:618285
777	CACNA1E	HP:0000639	Nystagmus	-	OMIM:618285
777	CACNA1E	HP:0000256	Macrocephaly	HP:0040284	OMIM:618285
777	CACNA1E	HP:0002803	Congenital contracture	13/30	OMIM:618285
777	CACNA1E	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:618285
778	CACNA1F	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
778	CACNA1F	HP:0001141	Severely reduced visual acuity	6/6	OMIM:300600
778	CACNA1F	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
778	CACNA1F	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
778	CACNA1F	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
778	CACNA1F	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
778	CACNA1F	HP:0007663	Reduced visual acuity	-	OMIM:300476
778	CACNA1F	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
778	CACNA1F	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:215
778	CACNA1F	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:178333
778	CACNA1F	HP:0007663	Reduced visual acuity	7/7	OMIM:300071
778	CACNA1F	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
778	CACNA1F	HP:0007642	Congenital stationary night blindness	-	OMIM:300071
778	CACNA1F	HP:0001419	X-linked recessive inheritance	-	OMIM:300476
778	CACNA1F	HP:0001417	X-linked inheritance	-	OMIM:300071
778	CACNA1F	HP:0001417	X-linked inheritance	-	OMIM:300600
778	CACNA1F	HP:0008323	Abnormal light- and dark-adapted electroretinogram	-	OMIM:300476
778	CACNA1F	HP:0003621	Juvenile onset	8/19	OMIM:180100
778	CACNA1F	HP:0030513	Difficulty adjusting from light to dark	HP:0040281	ORPHA:178333
778	CACNA1F	HP:0005592	Giant melanosomes in melanocytes	0/1	OMIM:300600
778	CACNA1F	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
778	CACNA1F	HP:0000639	Nystagmus	HP:0040282	ORPHA:215
778	CACNA1F	HP:0000639	Nystagmus	HP:0040281	ORPHA:178333
778	CACNA1F	HP:0000639	Nystagmus	-	OMIM:300600
778	CACNA1F	HP:0000639	Nystagmus	HP:0040283	OMIM:300476
778	CACNA1F	HP:0000639	Nystagmus	4/7	OMIM:300071
778	CACNA1F	HP:0000613	Photophobia	HP:0040283	OMIM:300476
778	CACNA1F	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
778	CACNA1F	HP:0000603	Central scotoma	-	OMIM:300476
778	CACNA1F	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
778	CACNA1F	HP:0030469	Abnormal dark-adapted electroretinogram	HP:0040281	ORPHA:215
778	CACNA1F	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
778	CACNA1F	HP:0030479	Abnormal amplitude of light-adapted flicker electroretinogram	-	OMIM:300071
778	CACNA1F	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	HP:0040283	ORPHA:215
778	CACNA1F	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
778	CACNA1F	HP:0000662	Nyctalopia	26/28	OMIM:180100
778	CACNA1F	HP:0000662	Nyctalopia	HP:0040281	ORPHA:215
778	CACNA1F	HP:0030639	Congenital stationary night blindness with abnormal fundus	HP:0040282	ORPHA:215
778	CACNA1F	HP:0030638	Congenital stationary night blindness with normal fundus	HP:0040282	ORPHA:215
778	CACNA1F	HP:0011463	Childhood onset	3/19	OMIM:180100
778	CACNA1F	HP:0011462	Young adult onset	8/19	OMIM:180100
778	CACNA1F	HP:0011522	Protanopia	6/6	OMIM:300600
778	CACNA1F	HP:0030825	Absent foveal reflex	HP:0040283	OMIM:300476
778	CACNA1F	HP:0008002	Abnormality of macular pigmentation	-	OMIM:300476
778	CACNA1F	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
778	CACNA1F	HP:0007703	Abnormality of retinal pigmentation	HP:0040284	ORPHA:215
778	CACNA1F	HP:0007750	Hypoplasia of the fovea	HP:0040281	ORPHA:178333
778	CACNA1F	HP:0007750	Hypoplasia of the fovea	6/6	OMIM:300600
778	CACNA1F	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
778	CACNA1F	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
778	CACNA1F	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
778	CACNA1F	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
778	CACNA1F	HP:0007894	Hypopigmentation of the fundus	6/6	OMIM:300600
778	CACNA1F	HP:0007894	Hypopigmentation of the fundus	HP:0040281	ORPHA:178333
778	CACNA1F	HP:0030329	Retinal thinning	HP:0040284	ORPHA:215
778	CACNA1F	HP:0007984	Electronegative electroretinogram	HP:0040283	ORPHA:215
778	CACNA1F	HP:0007984	Electronegative electroretinogram	7/7	OMIM:300071
778	CACNA1F	HP:0000483	Astigmatism	HP:0040283	OMIM:300476
778	CACNA1F	HP:0000483	Astigmatism	HP:0040281	ORPHA:178333
778	CACNA1F	HP:0000483	Astigmatism	6/6	OMIM:300600
778	CACNA1F	HP:0000486	Strabismus	HP:0040282	ORPHA:215
778	CACNA1F	HP:0031705	Compensatory head posture	HP:0040283	ORPHA:215
778	CACNA1F	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
778	CACNA1F	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
778	CACNA1F	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:178333
778	CACNA1F	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
778	CACNA1F	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
778	CACNA1F	HP:0000505	Visual impairment	-	OMIM:300476
778	CACNA1F	HP:0000505	Visual impairment	-	OMIM:300071
778	CACNA1F	HP:0000575	Scotoma	5/18	OMIM:180100
778	CACNA1F	HP:0000577	Exotropia	2/7	OMIM:300071
778	CACNA1F	HP:0000541	Retinal detachment	HP:0040283	OMIM:300476
778	CACNA1F	HP:0000540	Hypermetropia	HP:0040283	ORPHA:215
778	CACNA1F	HP:0000551	Color vision defect	-	OMIM:300476
778	CACNA1F	HP:0000551	Color vision defect	HP:0040281	ORPHA:178333
778	CACNA1F	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
778	CACNA1F	HP:0000551	Color vision defect	HP:0040284	ORPHA:215
778	CACNA1F	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:300476
778	CACNA1F	HP:0000543	Optic disc pallor	HP:0040283	OMIM:300476
778	CACNA1F	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
778	CACNA1F	HP:0000543	Optic disc pallor	1/1	OMIM:180100
778	CACNA1F	HP:0000545	Myopia	-	OMIM:180100
778	CACNA1F	HP:0000545	Myopia	HP:0040281	ORPHA:215
778	CACNA1F	HP:0000545	Myopia	HP:0040281	ORPHA:178333
778	CACNA1F	HP:0000545	Myopia	6/6	OMIM:300600
778	CACNA1F	HP:0000545	Myopia	-	OMIM:300476
779	CACNA1S	HP:0002486	Myotonia	0/1	OMIM:170400
779	CACNA1S	HP:0002486	Myotonia	-	ORPHA:79102
779	CACNA1S	HP:0002486	Myotonia	-	ORPHA:681
779	CACNA1S	HP:0003768	Periodic paralysis	1/1	OMIM:170400
779	CACNA1S	HP:0003768	Periodic paralysis	-	OMIM:188580
779	CACNA1S	HP:0002445	Tetraplegia	HP:0040281	ORPHA:79102
779	CACNA1S	HP:0003752	Episodic flaccid weakness	HP:0040281	ORPHA:681
779	CACNA1S	HP:0003752	Episodic flaccid weakness	HP:0040281	ORPHA:79102
779	CACNA1S	HP:0003752	Episodic flaccid weakness	1/1	OMIM:170400
779	CACNA1S	HP:0003745	Sporadic	-	OMIM:188580
779	CACNA1S	HP:0001270	Motor delay	11/11	OMIM:620246
779	CACNA1S	HP:0001252	Hypotonia	11/11	OMIM:620246
779	CACNA1S	HP:0001252	Hypotonia	1/1	OMIM:170400
779	CACNA1S	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:79102
779	CACNA1S	HP:0007340	Lower limb muscle weakness	HP:0040281	ORPHA:79102
779	CACNA1S	HP:0003829	Typified by incomplete penetrance	-	OMIM:170400
779	CACNA1S	HP:0000016	Urinary retention	HP:0040282	ORPHA:79102
779	CACNA1S	HP:0001324	Muscle weakness	-	OMIM:170400
779	CACNA1S	HP:0001324	Muscle weakness	-	OMIM:188580
779	CACNA1S	HP:0000007	Autosomal recessive inheritance	-	OMIM:620246
779	CACNA1S	HP:0001337	Tremor	HP:0040282	ORPHA:79102
779	CACNA1S	HP:0000006	Autosomal dominant inheritance	-	OMIM:170400
779	CACNA1S	HP:0000006	Autosomal dominant inheritance	-	OMIM:188580
779	CACNA1S	HP:0000006	Autosomal dominant inheritance	-	OMIM:601887
779	CACNA1S	HP:0000006	Autosomal dominant inheritance	-	OMIM:620246
779	CACNA1S	HP:0002650	Scoliosis	5/11	OMIM:620246
779	CACNA1S	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:681
779	CACNA1S	HP:0008978	Necrotizing myopathy	HP:0040283	ORPHA:423
779	CACNA1S	HP:0008942	Acute rhabdomyolysis	HP:0040283	ORPHA:423
779	CACNA1S	HP:0002789	Tachypnea	HP:0040282	ORPHA:423
779	CACNA1S	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:681
779	CACNA1S	HP:0002019	Constipation	HP:0040282	ORPHA:79102
779	CACNA1S	HP:0003327	Axial muscle weakness	11/11	OMIM:620246
779	CACNA1S	HP:0003394	Muscle spasm	HP:0040283	ORPHA:681
779	CACNA1S	HP:0003394	Muscle spasm	HP:0040282	ORPHA:79102
779	CACNA1S	HP:0002047	Malignant hyperthermia	-	OMIM:601887
779	CACNA1S	HP:0002047	Malignant hyperthermia	HP:0040282	ORPHA:423
779	CACNA1S	HP:0011706	Second degree atrioventricular block	HP:0040283	ORPHA:79102
779	CACNA1S	HP:0008180	Mildly elevated creatine kinase	HP:0040281	ORPHA:79102
779	CACNA1S	HP:0008180	Mildly elevated creatine kinase	HP:0040281	ORPHA:681
779	CACNA1S	HP:0008153	Periodic hypokalemic paresis	HP:0040280	ORPHA:681
779	CACNA1S	HP:0008153	Periodic hypokalemic paresis	HP:0040280	ORPHA:79102
779	CACNA1S	HP:0011784	Thyrotoxicosis with diffuse goiter	HP:0040281	ORPHA:79102
779	CACNA1S	HP:0011785	Thyrotoxicosis with toxic multinodular goiter	HP:0040281	ORPHA:79102
779	CACNA1S	HP:0011786	Thyrotoxicosis with toxic single thyroid nodule	HP:0040281	ORPHA:79102
779	CACNA1S	HP:0003470	Paralysis	HP:0040281	ORPHA:79102
779	CACNA1S	HP:0003470	Paralysis	HP:0040281	ORPHA:681
779	CACNA1S	HP:0002153	Hyperkalemia	HP:0040284	ORPHA:79102
779	CACNA1S	HP:0002153	Hyperkalemia	HP:0040283	ORPHA:423
779	CACNA1S	HP:0003457	EMG abnormality	HP:0040281	ORPHA:79102
779	CACNA1S	HP:0003457	EMG abnormality	HP:0040281	ORPHA:681
779	CACNA1S	HP:0004756	Ventricular tachycardia	HP:0040282	ORPHA:423
779	CACNA1S	HP:0004755	Supraventricular tachycardia	HP:0040282	ORPHA:423
779	CACNA1S	HP:0008256	Adrenocortical adenoma	HP:0040284	ORPHA:681
779	CACNA1S	HP:0008285	Transient hypophosphatemia	HP:0040281	ORPHA:79102
779	CACNA1S	HP:0003593	Infantile onset	1/11	OMIM:620246
779	CACNA1S	HP:0003593	Infantile onset	1/1	OMIM:170400
779	CACNA1S	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:79102
779	CACNA1S	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:423
779	CACNA1S	HP:0003557	Increased variability in muscle fiber diameter	8/9	OMIM:620246
779	CACNA1S	HP:0002203	Respiratory paralysis	HP:0040284	ORPHA:681
779	CACNA1S	HP:0002203	Respiratory paralysis	HP:0040284	ORPHA:79102
779	CACNA1S	HP:0011998	Postprandial hyperglycemia	HP:0040282	ORPHA:681
779	CACNA1S	HP:0011998	Postprandial hyperglycemia	HP:0040282	ORPHA:79102
779	CACNA1S	HP:0008331	Elevated creatine kinase after exercise	HP:0040283	ORPHA:423
779	CACNA1S	HP:0011968	Feeding difficulties	8/11	OMIM:620246
779	CACNA1S	HP:0011964	Intermittent painful muscle spasms	HP:0040282	ORPHA:423
779	CACNA1S	HP:0003694	Late-onset proximal muscle weakness	HP:0040283	ORPHA:681
779	CACNA1S	HP:0003694	Late-onset proximal muscle weakness	HP:0040283	ORPHA:79102
779	CACNA1S	HP:0003687	Centrally nucleated skeletal muscle fibers	2/9	OMIM:620246
779	CACNA1S	HP:0100647	Graves disease	HP:0040281	ORPHA:79102
779	CACNA1S	HP:0003623	Neonatal onset	4/11	OMIM:620246
779	CACNA1S	HP:0001962	Palpitations	HP:0040281	ORPHA:79102
779	CACNA1S	HP:0001962	Palpitations	-	OMIM:188580
779	CACNA1S	HP:0001945	Fever	HP:0040282	ORPHA:423
779	CACNA1S	HP:0001945	Fever	-	OMIM:601887
779	CACNA1S	HP:0001942	Metabolic acidosis	HP:0040282	ORPHA:423
779	CACNA1S	HP:0000602	Ophthalmoplegia	4/11	OMIM:620246
779	CACNA1S	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:423
779	CACNA1S	HP:0009045	Exercise-induced rhabdomyolysis	HP:0040283	ORPHA:423
779	CACNA1S	HP:0009020	Exercise-induced muscle fatigue	HP:0040282	ORPHA:681
779	CACNA1S	HP:0009020	Exercise-induced muscle fatigue	HP:0040282	ORPHA:79102
779	CACNA1S	HP:0004303	Abnormal muscle fiber morphology	HP:0040281	ORPHA:681
779	CACNA1S	HP:0004303	Abnormal muscle fiber morphology	HP:0040281	ORPHA:79102
779	CACNA1S	HP:0030674	Antenatal onset	3/11	OMIM:620246
779	CACNA1S	HP:0012726	Episodic hypokalemia	HP:0040280	ORPHA:681
779	CACNA1S	HP:0012726	Episodic hypokalemia	HP:0040280	ORPHA:79102
779	CACNA1S	HP:0011463	Childhood onset	3/11	OMIM:620246
779	CACNA1S	HP:0003198	Myopathy	HP:0040283	OMIM:170400
779	CACNA1S	HP:0003134	Abnormality of peripheral nerve conduction	-	ORPHA:79102
779	CACNA1S	HP:0000853	Goiter	-	OMIM:188580
779	CACNA1S	HP:0000836	Hyperthyroidism	HP:0040280	ORPHA:79102
779	CACNA1S	HP:0000836	Hyperthyroidism	-	OMIM:188580
779	CACNA1S	HP:0003236	Elevated circulating creatine kinase concentration	2/11	OMIM:620246
779	CACNA1S	HP:0003201	Rhabdomyolysis	HP:0040282	ORPHA:79102
779	CACNA1S	HP:0003201	Rhabdomyolysis	-	OMIM:188580
779	CACNA1S	HP:0003256	Abnormality of the coagulation cascade	HP:0040283	ORPHA:423
779	CACNA1S	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:79102
779	CACNA1S	HP:0100297	Increased endomysial connective tissue	4/9	OMIM:620246
779	CACNA1S	HP:0011675	Arrhythmia	HP:0040283	ORPHA:681
779	CACNA1S	HP:0012240	Increased intramyocellular lipid droplets	HP:0040281	ORPHA:681
779	CACNA1S	HP:0012240	Increased intramyocellular lipid droplets	HP:0040281	ORPHA:79102
779	CACNA1S	HP:0031320	Cardiomyocyte mitochondrial proliferation	HP:0040282	ORPHA:423
779	CACNA1S	HP:0000218	High palate	11/11	OMIM:620246
779	CACNA1S	HP:0001513	Obesity	HP:0040281	ORPHA:79102
779	CACNA1S	HP:0012364	Decreased urinary potassium	HP:0040281	ORPHA:79102
779	CACNA1S	HP:0006554	Acute hepatic failure	HP:0040283	ORPHA:423
779	CACNA1S	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040284	ORPHA:681
779	CACNA1S	HP:0002917	Hypomagnesemia	HP:0040281	ORPHA:79102
779	CACNA1S	HP:0002913	Myoglobinuria	HP:0040283	ORPHA:423
779	CACNA1S	HP:0002905	Hyperphosphatemia	HP:0040282	ORPHA:423
779	CACNA1S	HP:0002900	Hypokalemia	1/1	OMIM:170400
779	CACNA1S	HP:0002900	Hypokalemia	-	OMIM:188580
779	CACNA1S	HP:0005165	Shortened PR interval	HP:0040283	ORPHA:79102
779	CACNA1S	HP:0001649	Tachycardia	-	OMIM:188580
779	CACNA1S	HP:0001649	Tachycardia	-	OMIM:601887
779	CACNA1S	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:79102
779	CACNA1S	HP:0001657	Prolonged QT interval	HP:0040283	ORPHA:79102
779	CACNA1S	HP:0006682	Premature ventricular contraction	HP:0040283	ORPHA:423
779	CACNA1S	HP:0006670	Impaired myocardial contractility	-	ORPHA:681
779	CACNA1S	HP:0006670	Impaired myocardial contractility	-	ORPHA:79102
779	CACNA1S	HP:0001722	High-output congestive heart failure	HP:0040283	ORPHA:423
779	CACNA1S	HP:3000005	Abnormality of masseter muscle	HP:0040283	ORPHA:423
779	CACNA1S	HP:0012416	Hypercapnia	-	OMIM:601887
779	CACNA1S	HP:0012416	Hypercapnia	HP:0040282	ORPHA:423
779	CACNA1S	HP:0001824	Weight loss	HP:0040282	ORPHA:79102
779	CACNA1S	HP:0001824	Weight loss	-	OMIM:188580
779	CACNA1S	HP:0000597	Ophthalmoparesis	HP:0040284	ORPHA:79102
779	CACNA1S	HP:0012548	Fatty replacement of skeletal muscle	3/11	OMIM:620246
779	CACNA1S	HP:0012548	Fatty replacement of skeletal muscle	HP:0040283	ORPHA:681
779	CACNA1S	HP:0012531	Pain	HP:0040283	ORPHA:681
781	CACNA2D1	HP:0002421	Poor head control	2/2	OMIM:620149
781	CACNA2D1	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0003763	Bruxism	1/2	OMIM:620149
781	CACNA2D1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
781	CACNA2D1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
781	CACNA2D1	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0001279	Syncope	HP:0040283	ORPHA:51083
781	CACNA2D1	HP:0001279	Syncope	HP:0040282	ORPHA:130
781	CACNA2D1	HP:0001250	Seizure	HP:0040282	ORPHA:442835
781	CACNA2D1	HP:0001252	Hypotonia	2/2	OMIM:620149
781	CACNA2D1	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
781	CACNA2D1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
781	CACNA2D1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
781	CACNA2D1	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0001257	Spasticity	2/2	OMIM:620149
781	CACNA2D1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
781	CACNA2D1	HP:0001344	Absent speech	2/2	OMIM:620149
781	CACNA2D1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620149
781	CACNA2D1	HP:0001337	Tremor	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0008936	Axial hypotonia	2/2	OMIM:620149
781	CACNA2D1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:620149
781	CACNA2D1	HP:0002072	Chorea	2/2	OMIM:620149
781	CACNA2D1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
781	CACNA2D1	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
781	CACNA2D1	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
781	CACNA2D1	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
781	CACNA2D1	HP:0002121	Generalized non-motor (absence) seizure	2/2	OMIM:620149
781	CACNA2D1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
781	CACNA2D1	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
781	CACNA2D1	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
781	CACNA2D1	HP:0002187	Intellectual disability, profound	2/2	OMIM:620149
781	CACNA2D1	HP:0003593	Infantile onset	2/2	OMIM:620149
781	CACNA2D1	HP:0100704	Cerebral visual impairment	2/2	OMIM:620149
781	CACNA2D1	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0007021	Pain insensitivity	2/2	OMIM:620149
781	CACNA2D1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0011968	Feeding difficulties	2/2	OMIM:620149
781	CACNA2D1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
781	CACNA2D1	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
781	CACNA2D1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0010804	Tented upper lip vermilion	1/2	OMIM:620149
781	CACNA2D1	HP:0200055	Small hand	1/2	OMIM:620149
781	CACNA2D1	HP:0002310	Orofacial dyskinesia	2/2	OMIM:620149
781	CACNA2D1	HP:0000639	Nystagmus	1/2	OMIM:620149
781	CACNA2D1	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0001962	Palpitations	HP:0040282	ORPHA:51083
781	CACNA2D1	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
781	CACNA2D1	HP:0011327	Posterior plagiocephaly	1/2	OMIM:620149
781	CACNA2D1	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0004322	Short stature	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
781	CACNA2D1	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:51083
781	CACNA2D1	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0012736	Profound global developmental delay	2/2	OMIM:620149
781	CACNA2D1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
781	CACNA2D1	HP:0000717	Autism	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
781	CACNA2D1	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
781	CACNA2D1	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:51083
781	CACNA2D1	HP:0012232	Shortened QT interval	HP:0040280	ORPHA:51083
781	CACNA2D1	HP:0000252	Microcephaly	1/2	OMIM:620149
781	CACNA2D1	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0000218	High palate	1/2	OMIM:620149
781	CACNA2D1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0002870	Obstructive sleep apnea	1/2	OMIM:620149
781	CACNA2D1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
781	CACNA2D1	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
781	CACNA2D1	HP:0000369	Low-set ears	1/2	OMIM:620149
781	CACNA2D1	HP:0000341	Narrow forehead	2/2	OMIM:620149
781	CACNA2D1	HP:0000348	High forehead	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0001678	Atrioventricular block	HP:0040283	ORPHA:51083
781	CACNA2D1	HP:0032799	Focal impaired awareness hemiclonic seizure	1/2	OMIM:620149
781	CACNA2D1	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
781	CACNA2D1	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:51083
781	CACNA2D1	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
781	CACNA2D1	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:51083
781	CACNA2D1	HP:0001662	Bradycardia	HP:0040281	ORPHA:51083
781	CACNA2D1	HP:0031491	Continuous spike and waves during slow sleep	1/2	OMIM:620149
781	CACNA2D1	HP:0000400	Macrotia	2/2	OMIM:620149
781	CACNA2D1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0000508	Ptosis	1/2	OMIM:620149
781	CACNA2D1	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
781	CACNA2D1	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
781	CACNA2D1	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
781	CACNA2D1	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
783	CACNB2	HP:0001279	Syncope	-	OMIM:611876
783	CACNB2	HP:0001279	Syncope	HP:0040282	ORPHA:130
783	CACNB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:611876
783	CACNB2	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
783	CACNB2	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
783	CACNB2	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
783	CACNB2	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
783	CACNB2	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
783	CACNB2	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
783	CACNB2	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
783	CACNB2	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
783	CACNB2	HP:0005110	Atrial fibrillation	-	OMIM:611876
783	CACNB2	HP:0012232	Shortened QT interval	-	OMIM:611876
783	CACNB2	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
783	CACNB2	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
783	CACNB2	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
785	CACNB4	HP:0007270	Atypical absence seizure	1/9	OMIM:613855
785	CACNB4	HP:0007270	Atypical absence seizure	1/11	OMIM:607682
785	CACNB4	HP:0010850	EEG with spike-wave complexes	1/9	OMIM:613855
785	CACNB4	HP:0010850	EEG with spike-wave complexes	1/11	OMIM:607682
785	CACNB4	HP:0001251	Ataxia	1/9	OMIM:613855
785	CACNB4	HP:0001251	Ataxia	HP:0040282	ORPHA:211067
785	CACNB4	HP:0001249	Intellectual disability	-	ORPHA:307
785	CACNB4	HP:0001249	Intellectual disability	0/11	OMIM:607682
785	CACNB4	HP:0001260	Dysarthria	3/9	OMIM:613855
785	CACNB4	HP:0001260	Dysarthria	HP:0040282	ORPHA:211067
785	CACNB4	HP:0001260	Dysarthria	3/11	OMIM:607682
785	CACNB4	HP:0003829	Typified by incomplete penetrance	-	OMIM:613855
785	CACNB4	HP:0012000	EEG with generalized spikes	1/9	OMIM:613855
785	CACNB4	HP:0000006	Autosomal dominant inheritance	-	OMIM:607682
785	CACNB4	HP:0000006	Autosomal dominant inheritance	-	OMIM:613855
785	CACNB4	HP:0001336	Myoclonus	1/9	OMIM:613855
785	CACNB4	HP:0001336	Myoclonus	1/11	OMIM:607682
785	CACNB4	HP:0000153	Abnormality of the mouth	HP:0040282	ORPHA:307
785	CACNB4	HP:0002069	Bilateral tonic-clonic seizure	3/9	OMIM:613855
785	CACNB4	HP:0002069	Bilateral tonic-clonic seizure	2/11	OMIM:607682
785	CACNB4	HP:0002078	Truncal ataxia	1/9	OMIM:613855
785	CACNB4	HP:0002078	Truncal ataxia	1/11	OMIM:607682
785	CACNB4	HP:0002078	Truncal ataxia	HP:0040282	ORPHA:211067
785	CACNB4	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:307
785	CACNB4	HP:0002121	Generalized non-motor (absence) seizure	1/11	OMIM:607682
785	CACNB4	HP:0002133	Status epilepticus	HP:0040284	ORPHA:307
785	CACNB4	HP:0002131	Episodic ataxia	-	OMIM:613855
785	CACNB4	HP:0002131	Episodic ataxia	2/11	OMIM:607682
785	CACNB4	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:307
785	CACNB4	HP:0002172	Postural instability	3/9	OMIM:613855
785	CACNB4	HP:0002172	Postural instability	3/11	OMIM:607682
785	CACNB4	HP:0002172	Postural instability	HP:0040282	ORPHA:211067
785	CACNB4	HP:0010532	Paroxysmal vertigo	2/11	OMIM:607682
785	CACNB4	HP:0007000	Morning myoclonic jerks	HP:0040281	ORPHA:307
785	CACNB4	HP:0007000	Morning myoclonic jerks	1/11	OMIM:607682
785	CACNB4	HP:0002392	EEG with polyspike wave complexes	HP:0040281	ORPHA:307
785	CACNB4	HP:0002392	EEG with polyspike wave complexes	-	OMIM:607682
785	CACNB4	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2/9	OMIM:613855
785	CACNB4	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:307
785	CACNB4	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2/11	OMIM:607682
785	CACNB4	HP:0002321	Vertigo	2/9	OMIM:613855
785	CACNB4	HP:0002321	Vertigo	HP:0040282	ORPHA:211067
785	CACNB4	HP:0007207	Photosensitive tonic-clonic seizure	HP:0040283	ORPHA:307
785	CACNB4	HP:0010818	Generalized tonic seizure	1/11	OMIM:607682
785	CACNB4	HP:0003621	Juvenile onset	4/7	OMIM:613855
785	CACNB4	HP:0003621	Juvenile onset	2/6	OMIM:607682
785	CACNB4	HP:0007193	Bilateral tonic-clonic seizure on awakening	-	OMIM:607682
785	CACNB4	HP:0000640	Gaze-evoked nystagmus	1/9	OMIM:613855
785	CACNB4	HP:0000640	Gaze-evoked nystagmus	HP:0040282	ORPHA:211067
785	CACNB4	HP:0000639	Nystagmus	1/11	OMIM:607682
785	CACNB4	HP:0000718	Aggressive behavior	HP:0040284	ORPHA:307
785	CACNB4	HP:0011463	Childhood onset	2/6	OMIM:607682
785	CACNB4	HP:0011462	Young adult onset	3/7	OMIM:613855
785	CACNB4	HP:0011147	Typical absence seizure	2/9	OMIM:613855
785	CACNB4	HP:0011147	Typical absence seizure	1/11	OMIM:607682
785	CACNB4	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:307
785	CACNB4	HP:0025710	Late young adult onset	1/6	OMIM:607682
785	CACNB4	HP:0025709	Intermediate young adult onset	1/6	OMIM:607682
788	SLC25A20	HP:6000575	Reduced circulating 6-pyruvoyltetrahydropterin synthase activity	6/6	OMIM:212138
788	SLC25A20	HP:6000574	Reduced tissue carnitine-acylcarnitine translocase activity	6/6	OMIM:212138
788	SLC25A20	HP:0001298	Encephalopathy	HP:0040281	ORPHA:159
788	SLC25A20	HP:0001290	Generalized hypotonia	-	OMIM:212138
788	SLC25A20	HP:0001254	Lethargy	HP:0040281	ORPHA:159
788	SLC25A20	HP:0001254	Lethargy	1/1	OMIM:212138
788	SLC25A20	HP:0001250	Seizure	HP:0040283	ORPHA:159
788	SLC25A20	HP:0001250	Seizure	-	OMIM:212138
788	SLC25A20	HP:0001252	Hypotonia	-	OMIM:212138
788	SLC25A20	HP:0001263	Global developmental delay	HP:0040281	ORPHA:159
788	SLC25A20	HP:0001259	Coma	HP:0040283	ORPHA:159
788	SLC25A20	HP:0001259	Coma	-	OMIM:212138
788	SLC25A20	HP:0001397	Hepatic steatosis	1/1	OMIM:212138
788	SLC25A20	HP:0001399	Hepatic failure	HP:0040283	ORPHA:159
788	SLC25A20	HP:0001324	Muscle weakness	HP:0040281	ORPHA:159
788	SLC25A20	HP:0001324	Muscle weakness	-	OMIM:212138
788	SLC25A20	HP:0000007	Autosomal recessive inheritance	-	OMIM:212138
788	SLC25A20	HP:0002615	Hypotension	HP:0040281	ORPHA:159
788	SLC25A20	HP:0002615	Hypotension	-	OMIM:212138
788	SLC25A20	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:159
788	SLC25A20	HP:0002045	Hypothermia	HP:0040283	ORPHA:159
788	SLC25A20	HP:0100520	Oliguria	HP:0040283	ORPHA:159
788	SLC25A20	HP:0004756	Ventricular tachycardia	-	OMIM:212138
788	SLC25A20	HP:0004756	Ventricular tachycardia	HP:0040281	ORPHA:159
788	SLC25A20	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:159
788	SLC25A20	HP:0002240	Hepatomegaly	1/1	OMIM:212138
788	SLC25A20	HP:0008331	Elevated creatine kinase after exercise	HP:0040281	ORPHA:159
788	SLC25A20	HP:0100602	Preeclampsia	HP:0040283	ORPHA:159
788	SLC25A20	HP:0000639	Nystagmus	HP:0040283	ORPHA:159
788	SLC25A20	HP:0001943	Hypoglycemia	-	OMIM:212138
788	SLC25A20	HP:0001987	Hyperammonemia	HP:0040281	ORPHA:159
788	SLC25A20	HP:0001987	Hyperammonemia	-	OMIM:212138
788	SLC25A20	HP:0001985	Hypoketotic hypoglycemia	HP:0040281	ORPHA:159
788	SLC25A20	HP:0001998	Neonatal hypoglycemia	1/1	OMIM:212138
788	SLC25A20	HP:0000737	Irritability	HP:0040281	ORPHA:159
788	SLC25A20	HP:0000737	Irritability	-	OMIM:212138
788	SLC25A20	HP:0003162	Fasting hypoglycemia	HP:0040281	ORPHA:159
788	SLC25A20	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:212138
788	SLC25A20	HP:0003234	Decreased circulating carnitine concentration	HP:0040281	ORPHA:159
788	SLC25A20	HP:0003215	Dicarboxylic aciduria	-	OMIM:212138
788	SLC25A20	HP:0003215	Dicarboxylic aciduria	HP:0040281	ORPHA:159
788	SLC25A20	HP:0003201	Rhabdomyolysis	-	OMIM:212138
788	SLC25A20	HP:0003201	Rhabdomyolysis	HP:0040281	ORPHA:159
788	SLC25A20	HP:0045045	Elevated circulating acylcarnitine concentration	HP:0040281	ORPHA:159
788	SLC25A20	HP:0000961	Cyanosis	HP:0040283	ORPHA:159
788	SLC25A20	HP:0011675	Arrhythmia	HP:0040281	ORPHA:159
788	SLC25A20	HP:0000252	Microcephaly	HP:0040283	ORPHA:159
788	SLC25A20	HP:0002882	Sudden episodic apnea	HP:0040283	ORPHA:159
788	SLC25A20	HP:0006543	Cardiorespiratory arrest	-	OMIM:212138
788	SLC25A20	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:159
788	SLC25A20	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:212138
788	SLC25A20	HP:0001695	Cardiac arrest	1/1	OMIM:212138
788	SLC25A20	HP:0001678	Atrioventricular block	-	OMIM:212138
788	SLC25A20	HP:0001662	Bradycardia	-	OMIM:212138
788	SLC25A20	HP:0001638	Cardiomyopathy	HP:0040281	ORPHA:159
788	SLC25A20	HP:0001638	Cardiomyopathy	-	OMIM:212138
788	SLC25A20	HP:0006682	Premature ventricular contraction	-	OMIM:212138
788	SLC25A20	HP:0001714	Ventricular hypertrophy	-	OMIM:212138
790	CAD	HP:0002465	Poor speech	-	OMIM:616457
790	CAD	HP:0001250	Seizure	5/5	OMIM:616457
790	CAD	HP:0001252	Hypotonia	1/1	OMIM:616457
790	CAD	HP:0001263	Global developmental delay	6/6	OMIM:616457
790	CAD	HP:0003819	Death in childhood	2/5	OMIM:616457
790	CAD	HP:0000007	Autosomal recessive inheritance	-	OMIM:616457
790	CAD	HP:0002014	Diarrhea	1/1	OMIM:616457
790	CAD	HP:0002015	Dysphagia	3/4	OMIM:616457
790	CAD	HP:0002136	Broad-based gait	1/1	OMIM:616457
790	CAD	HP:0002133	Status epilepticus	2/5	OMIM:616457
790	CAD	HP:0003593	Infantile onset	2/6	OMIM:616457
790	CAD	HP:0200134	Epileptic encephalopathy	5/5	OMIM:616457
790	CAD	HP:0002283	Global brain atrophy	1/5	OMIM:616457
790	CAD	HP:0004823	Anisopoikilocytosis	6/6	OMIM:616457
790	CAD	HP:0002376	Developmental regression	4/4	OMIM:616457
790	CAD	HP:0003676	Progressive	-	OMIM:616457
790	CAD	HP:0001981	Schistocytosis	1/1	OMIM:616457
790	CAD	HP:0001947	Renal tubular acidosis	1/1	OMIM:616457
790	CAD	HP:0001927	Acanthocytosis	1/1	OMIM:616457
790	CAD	HP:0001903	Anemia	5/5	OMIM:616457
790	CAD	HP:0001987	Hyperammonemia	1/1	OMIM:616457
790	CAD	HP:0011463	Childhood onset	4/5	OMIM:616457
790	CAD	HP:0003218	Oroticaciduria	0/5	OMIM:616457
790	CAD	HP:0001508	Failure to thrive	1/1	OMIM:616457
790	CAD	HP:0012345	Abnormal glycosylation	1/1	OMIM:616457
799	CALCR	HP:0000006	Autosomal dominant inheritance	-	OMIM:166710
799	CALCR	HP:0000939	Osteoporosis	-	OMIM:166710
801	CALM1	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
801	CALM1	HP:0001279	Syncope	HP:0040282	ORPHA:101016
801	CALM1	HP:0001279	Syncope	13/13	OMIM:614916
801	CALM1	HP:0001279	Syncope	HP:0040283	ORPHA:3286
801	CALM1	HP:0001250	Seizure	HP:0040283	ORPHA:101016
801	CALM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616247
801	CALM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
801	CALM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614916
801	CALM1	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
801	CALM1	HP:0004756	Ventricular tachycardia	2/13	OMIM:614916
801	CALM1	HP:0004756	Ventricular tachycardia	HP:0040281	ORPHA:3286
801	CALM1	HP:0004755	Supraventricular tachycardia	HP:0040282	ORPHA:3286
801	CALM1	HP:0003593	Infantile onset	2/3	OMIM:616247
801	CALM1	HP:0002321	Vertigo	-	OMIM:614916
801	CALM1	HP:0002321	Vertigo	HP:0040282	ORPHA:3286
801	CALM1	HP:0003623	Neonatal onset	1/3	OMIM:616247
801	CALM1	HP:0003621	Juvenile onset	4/7	OMIM:614916
801	CALM1	HP:0001962	Palpitations	HP:0040282	ORPHA:3286
801	CALM1	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
801	CALM1	HP:0011463	Childhood onset	1/1	OMIM:616247
801	CALM1	HP:0011463	Childhood onset	3/7	OMIM:614916
801	CALM1	HP:0012819	Myocarditis	0/1	OMIM:616247
801	CALM1	HP:0034305	2:1 atrioventricular block	2/3	OMIM:616247
801	CALM1	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
801	CALM1	HP:0012266	T-wave alternans	3/3	OMIM:616247
801	CALM1	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
801	CALM1	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:3286
801	CALM1	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
801	CALM1	HP:0005184	Prolonged QTc interval	4/4	OMIM:616247
801	CALM1	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
801	CALM1	HP:0000365	Hearing impairment	-	ORPHA:101016
801	CALM1	HP:0001695	Cardiac arrest	4/4	OMIM:616247
801	CALM1	HP:0001695	Cardiac arrest	1/13	OMIM:614916
801	CALM1	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:3286
801	CALM1	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
801	CALM1	HP:0001699	Sudden death	-	OMIM:616247
801	CALM1	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
801	CALM1	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
801	CALM1	HP:0001664	Torsade de pointes	1/46	OMIM:115000
801	CALM1	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
801	CALM1	HP:0001645	Sudden cardiac death	-	OMIM:115000
801	CALM1	HP:0001645	Sudden cardiac death	2/13	OMIM:614916
801	CALM1	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:3286
801	CALM1	HP:0001663	Ventricular fibrillation	4/4	OMIM:616247
801	CALM1	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:3286
801	CALM1	HP:0001663	Ventricular fibrillation	-	OMIM:115000
801	CALM1	HP:0001663	Ventricular fibrillation	1/13	OMIM:614916
801	CALM1	HP:0001657	Prolonged QT interval	-	OMIM:616247
801	CALM1	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
801	CALM1	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
801	CALM1	HP:0006682	Premature ventricular contraction	1/1	OMIM:614916
801	CALM1	HP:0031677	Polymorphic ventricular tachycardia	3/3	OMIM:616247
801	CALM1	HP:0031677	Polymorphic ventricular tachycardia	HP:0040282	ORPHA:3286
805	CALM2	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
805	CALM2	HP:0001279	Syncope	HP:0040282	ORPHA:101016
805	CALM2	HP:0001279	Syncope	4/5	OMIM:616249
805	CALM2	HP:0001279	Syncope	HP:0040283	ORPHA:3286
805	CALM2	HP:0001250	Seizure	HP:0040283	ORPHA:101016
805	CALM2	HP:0001250	Seizure	1/5	OMIM:616249
805	CALM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616249
805	CALM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
805	CALM2	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
805	CALM2	HP:0004756	Ventricular tachycardia	HP:0040281	ORPHA:3286
805	CALM2	HP:0004755	Supraventricular tachycardia	HP:0040282	ORPHA:3286
805	CALM2	HP:0002321	Vertigo	HP:0040282	ORPHA:3286
805	CALM2	HP:0003623	Neonatal onset	1/5	OMIM:616249
805	CALM2	HP:0003621	Juvenile onset	1/5	OMIM:616249
805	CALM2	HP:0001962	Palpitations	HP:0040282	ORPHA:3286
805	CALM2	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
805	CALM2	HP:0030682	Left ventricular noncompaction	1/5	OMIM:616249
805	CALM2	HP:0011463	Childhood onset	3/5	OMIM:616249
805	CALM2	HP:0011461	Fetal onset	1/1	OMIM:616249
805	CALM2	HP:0034306	Ventricular bigeminy	1/5	OMIM:616249
805	CALM2	HP:0034305	2:1 atrioventricular block	1/1	OMIM:616249
805	CALM2	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
805	CALM2	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
805	CALM2	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:3286
805	CALM2	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
805	CALM2	HP:0005184	Prolonged QTc interval	6/6	OMIM:616249
805	CALM2	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
805	CALM2	HP:0000365	Hearing impairment	-	ORPHA:101016
805	CALM2	HP:0001695	Cardiac arrest	3/6	OMIM:616249
805	CALM2	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:3286
805	CALM2	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
805	CALM2	HP:0001688	Sinus bradycardia	1/1	OMIM:616249
805	CALM2	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
805	CALM2	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
805	CALM2	HP:0001664	Torsade de pointes	1/46	OMIM:115000
805	CALM2	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
805	CALM2	HP:0001645	Sudden cardiac death	-	OMIM:115000
805	CALM2	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:3286
805	CALM2	HP:0001663	Ventricular fibrillation	2/6	OMIM:616249
805	CALM2	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:3286
805	CALM2	HP:0001663	Ventricular fibrillation	-	OMIM:115000
805	CALM2	HP:0001662	Bradycardia	4/6	OMIM:616249
805	CALM2	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
805	CALM2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
805	CALM2	HP:0006682	Premature ventricular contraction	2/5	OMIM:616249
805	CALM2	HP:0031677	Polymorphic ventricular tachycardia	1/5	OMIM:616249
805	CALM2	HP:0031677	Polymorphic ventricular tachycardia	HP:0040282	ORPHA:3286
808	CALM3	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
808	CALM3	HP:0001279	Syncope	HP:0040282	ORPHA:101016
808	CALM3	HP:0001279	Syncope	HP:0040283	ORPHA:3286
808	CALM3	HP:0001250	Seizure	HP:0040283	ORPHA:101016
808	CALM3	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
808	CALM3	HP:0000006	Autosomal dominant inheritance	-	OMIM:618782
808	CALM3	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
808	CALM3	HP:0011706	Second degree atrioventricular block	1/1	OMIM:618782
808	CALM3	HP:0004756	Ventricular tachycardia	HP:0040281	ORPHA:3286
808	CALM3	HP:0004755	Supraventricular tachycardia	HP:0040282	ORPHA:3286
808	CALM3	HP:0003577	Congenital onset	1/1	OMIM:618782
808	CALM3	HP:0002321	Vertigo	HP:0040282	ORPHA:3286
808	CALM3	HP:0001962	Palpitations	HP:0040282	ORPHA:3286
808	CALM3	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
808	CALM3	HP:0011648	Patent ductus arteriosus after birth at term	1/1	OMIM:618782
808	CALM3	HP:0011682	Perimembranous ventricular septal defect	1/1	OMIM:618782
808	CALM3	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
808	CALM3	HP:0012266	T-wave alternans	1/1	OMIM:618782
808	CALM3	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
808	CALM3	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:3286
808	CALM3	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
808	CALM3	HP:0005184	Prolonged QTc interval	1/1	OMIM:618782
808	CALM3	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
808	CALM3	HP:0000365	Hearing impairment	-	ORPHA:101016
808	CALM3	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:3286
808	CALM3	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
808	CALM3	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
808	CALM3	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
808	CALM3	HP:0001664	Torsade de pointes	1/46	OMIM:115000
808	CALM3	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
808	CALM3	HP:0001645	Sudden cardiac death	-	OMIM:115000
808	CALM3	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:3286
808	CALM3	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:3286
808	CALM3	HP:0001663	Ventricular fibrillation	-	OMIM:115000
808	CALM3	HP:0001662	Bradycardia	1/1	OMIM:618782
808	CALM3	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
808	CALM3	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
808	CALM3	HP:0031677	Polymorphic ventricular tachycardia	HP:0040282	ORPHA:3286
811	CALR	HP:0025142	Constitutional symptom	HP:0040282	ORPHA:824
811	CALR	HP:0002488	Acute leukemia	HP:0040283	ORPHA:3318
811	CALR	HP:0002480	Hepatic encephalopathy	HP:0040283	ORPHA:131
811	CALR	HP:0002586	Peritonitis	HP:0040283	ORPHA:131
811	CALR	HP:0031020	Bone marrow hypercellularity	HP:0040283	ORPHA:824
811	CALR	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:131
811	CALR	HP:0001394	Cirrhosis	HP:0040282	ORPHA:131
811	CALR	HP:0000006	Autosomal dominant inheritance	-	OMIM:187950
811	CALR	HP:0012156	Hemophagocytosis	0/2	OMIM:254450
811	CALR	HP:0012143	Abnormal megakaryocyte morphology	HP:0040282	ORPHA:824
811	CALR	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040284	ORPHA:824
811	CALR	HP:0001442	Typified by somatic mosaicism	-	OMIM:254450
811	CALR	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:824
811	CALR	HP:0001409	Portal hypertension	HP:0040283	ORPHA:824
811	CALR	HP:0001409	Portal hypertension	HP:0040281	ORPHA:131
811	CALR	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:824
811	CALR	HP:0002024	Malabsorption	HP:0040283	ORPHA:131
811	CALR	HP:0002027	Abdominal pain	HP:0040282	ORPHA:131
811	CALR	HP:0002076	Migraine	HP:0040282	ORPHA:3318
811	CALR	HP:0002040	Esophageal varix	HP:0040282	ORPHA:131
811	CALR	HP:0002039	Anorexia	HP:0040283	ORPHA:824
811	CALR	HP:0003388	Easy fatigability	HP:0040283	ORPHA:824
811	CALR	HP:0100576	Amaurosis fugax	HP:0040281	ORPHA:3318
811	CALR	HP:0008148	Impaired epinephrine-induced platelet aggregation	3/3	OMIM:187950
811	CALR	HP:0011875	Abnormal platelet morphology	HP:0040281	ORPHA:3318
811	CALR	HP:0003401	Paresthesia	HP:0040281	ORPHA:3318
811	CALR	HP:0003593	Infantile onset	2/2	OMIM:254450
811	CALR	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:131
811	CALR	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:824
811	CALR	HP:0002240	Hepatomegaly	2/2	OMIM:254450
811	CALR	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:131
811	CALR	HP:0004866	Impaired ADP-induced platelet aggregation	3/3	OMIM:187950
811	CALR	HP:0100785	Insomnia	HP:0040282	ORPHA:3318
811	CALR	HP:0100749	Chest pain	HP:0040281	ORPHA:3318
811	CALR	HP:0011974	Myelofibrosis	2/2	OMIM:254450
811	CALR	HP:0011974	Myelofibrosis	HP:0040283	ORPHA:3318
811	CALR	HP:0008320	Impaired collagen-induced platelet aggregation	3/3	OMIM:187950
811	CALR	HP:0001028	Hemangioma	HP:0040284	ORPHA:824
811	CALR	HP:0002321	Vertigo	HP:0040282	ORPHA:3318
811	CALR	HP:0002315	Headache	HP:0040282	ORPHA:3318
811	CALR	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:3318
811	CALR	HP:0100659	Abnormal cerebral vascular morphology	HP:0040281	ORPHA:3318
811	CALR	HP:0001082	Cholecystitis	HP:0040283	ORPHA:131
811	CALR	HP:0032147	Erythromelalgia	HP:0040283	ORPHA:3318
811	CALR	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:824
811	CALR	HP:0004936	Venous thrombosis	HP:0040281	ORPHA:3318
811	CALR	HP:0005513	Increased megakaryocyte count	HP:0040281	ORPHA:3318
811	CALR	HP:0005547	Myeloproliferative disorder	-	OMIM:254450
811	CALR	HP:0005561	Abnormal bone marrow cell morphology	HP:0040281	ORPHA:824
811	CALR	HP:0005561	Abnormal bone marrow cell morphology	HP:0040281	ORPHA:3318
811	CALR	HP:0001977	Abnormal thrombosis	HP:0040283	ORPHA:824
811	CALR	HP:0001978	Extramedullary hematopoiesis	2/2	OMIM:254450
811	CALR	HP:0001978	Extramedullary hematopoiesis	HP:0040283	ORPHA:824
811	CALR	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:824
811	CALR	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:3318
811	CALR	HP:0001945	Fever	HP:0040282	ORPHA:131
811	CALR	HP:0001945	Fever	HP:0040283	ORPHA:824
811	CALR	HP:0001945	Fever	-	OMIM:254450
811	CALR	HP:0001903	Anemia	HP:0040282	ORPHA:824
811	CALR	HP:0004326	Cachexia	HP:0040284	ORPHA:824
811	CALR	HP:0004377	Hematological neoplasm	HP:0040284	ORPHA:824
811	CALR	HP:0003010	Prolonged bleeding time	HP:0040281	ORPHA:3318
811	CALR	HP:0004447	Poikilocytosis	HP:0040283	ORPHA:824
811	CALR	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:824
811	CALR	HP:0004420	Arterial thrombosis	HP:0040281	ORPHA:3318
811	CALR	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:131
811	CALR	HP:0000980	Pallor	HP:0040282	ORPHA:824
811	CALR	HP:0000980	Pallor	2/2	OMIM:254450
811	CALR	HP:0000979	Purpura	-	OMIM:254450
811	CALR	HP:0000979	Purpura	HP:0040283	ORPHA:824
811	CALR	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:3318
811	CALR	HP:0000952	Jaundice	HP:0040283	ORPHA:131
811	CALR	HP:0000967	Petechiae	HP:0040283	ORPHA:824
811	CALR	HP:0033045	Bipedal edema	HP:0040282	ORPHA:131
811	CALR	HP:0030057	Autoimmune antibody positivity	-	ORPHA:824
811	CALR	HP:0031388	Megakaryocyte nucleus hyperlobulation	HP:0040281	ORPHA:3318
811	CALR	HP:0001541	Ascites	HP:0040281	ORPHA:131
811	CALR	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:3318
811	CALR	HP:0031364	Ecchymosis	HP:0040283	ORPHA:824
811	CALR	HP:0012378	Fatigue	HP:0040282	ORPHA:824
811	CALR	HP:0012378	Fatigue	HP:0040281	ORPHA:3318
811	CALR	HP:0005244	Gastrointestinal infarctions	HP:0040283	ORPHA:131
811	CALR	HP:0005214	Intestinal obstruction	HP:0040283	ORPHA:131
811	CALR	HP:0006554	Acute hepatic failure	HP:0040283	ORPHA:131
811	CALR	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:131
811	CALR	HP:0001658	Myocardial infarction	HP:0040281	ORPHA:3318
811	CALR	HP:0030157	Flank pain	HP:0040283	ORPHA:824
811	CALR	HP:0011134	Low-grade fever	HP:0040283	ORPHA:824
811	CALR	HP:0030243	Hepatic vein thrombosis	HP:0040283	ORPHA:3318
811	CALR	HP:0030243	Hepatic vein thrombosis	HP:0040282	ORPHA:131
811	CALR	HP:0001744	Splenomegaly	HP:0040281	ORPHA:131
811	CALR	HP:0001744	Splenomegaly	HP:0040282	ORPHA:824
811	CALR	HP:0001744	Splenomegaly	HP:0040282	ORPHA:3318
811	CALR	HP:0001744	Splenomegaly	1/5	OMIM:187950
811	CALR	HP:0001744	Splenomegaly	2/2	OMIM:254450
811	CALR	HP:0001824	Weight loss	HP:0040283	ORPHA:131
811	CALR	HP:0000505	Visual impairment	HP:0040283	ORPHA:3318
811	CALR	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:824
811	CALR	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:3318
811	CALR	HP:0001894	Thrombocytosis	HP:0040283	ORPHA:824
811	CALR	HP:0001894	Thrombocytosis	9/9	OMIM:187950
811	CALR	HP:0001894	Thrombocytosis	HP:0040281	ORPHA:3318
811	CALR	HP:0001872	Abnormality of thrombocytes	HP:0040281	ORPHA:3318
811	CALR	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040282	ORPHA:824
811	CALR	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:824
811	CALR	HP:0001876	Pancytopenia	HP:0040283	ORPHA:824
815	CAMK2A	HP:0010864	Intellectual disability, severe	2/2	OMIM:618095
815	CAMK2A	HP:0008551	Microtia	0/14	OMIM:617798
815	CAMK2A	HP:0100814	Blue nevus	1/14	OMIM:617798
815	CAMK2A	HP:0001252	Hypotonia	7/14	OMIM:617798
815	CAMK2A	HP:0001252	Hypotonia	2/2	OMIM:618095
815	CAMK2A	HP:0002579	Gastrointestinal dysmotility	1/14	OMIM:617798
815	CAMK2A	HP:0001249	Intellectual disability	14/14	OMIM:617798
815	CAMK2A	HP:0001263	Global developmental delay	12/14	OMIM:617798
815	CAMK2A	HP:0001263	Global developmental delay	2/2	OMIM:618095
815	CAMK2A	HP:0001257	Spasticity	2/2	OMIM:618095
815	CAMK2A	HP:0002566	Intestinal malrotation	1/14	OMIM:617798
815	CAMK2A	HP:0002540	Inability to walk	2/2	OMIM:618095
815	CAMK2A	HP:0000054	Micropenis	1/14	OMIM:617798
815	CAMK2A	HP:0001382	Joint hypermobility	2/14	OMIM:617798
815	CAMK2A	HP:0000028	Cryptorchidism	1/14	OMIM:617798
815	CAMK2A	HP:0001344	Absent speech	-	OMIM:617798
815	CAMK2A	HP:0001344	Absent speech	2/2	OMIM:618095
815	CAMK2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:618095
815	CAMK2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:617798
815	CAMK2A	HP:0000154	Wide mouth	1/14	OMIM:617798
815	CAMK2A	HP:0008936	Axial hypotonia	1/14	OMIM:617798
815	CAMK2A	HP:0000126	Hydronephrosis	1/14	OMIM:617798
815	CAMK2A	HP:0002069	Bilateral tonic-clonic seizure	0/14	OMIM:617798
815	CAMK2A	HP:0002121	Generalized non-motor (absence) seizure	1/14	OMIM:617798
815	CAMK2A	HP:0002194	Delayed gross motor development	12/14	OMIM:617798
815	CAMK2A	HP:0003593	Infantile onset	2/2	OMIM:618095
815	CAMK2A	HP:0003593	Infantile onset	-	OMIM:617798
815	CAMK2A	HP:0002236	Frontal upsweep of hair	1/14	OMIM:617798
815	CAMK2A	HP:0002247	Duodenal atresia	1/14	OMIM:617798
815	CAMK2A	HP:0007074	Thick corpus callosum	1/14	OMIM:617798
815	CAMK2A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/14	OMIM:617798
815	CAMK2A	HP:0002353	EEG abnormality	2/14	OMIM:617798
815	CAMK2A	HP:0002317	Unsteady gait	0/14	OMIM:617798
815	CAMK2A	HP:0000601	Hypotelorism	1/14	OMIM:617798
815	CAMK2A	HP:0011327	Posterior plagiocephaly	1/14	OMIM:617798
815	CAMK2A	HP:0006979	Sleep-wake cycle disturbance	1/14	OMIM:617798
815	CAMK2A	HP:0004305	Involuntary movements	2/14	OMIM:617798
815	CAMK2A	HP:0031936	Delayed ability to walk	-	OMIM:617798
815	CAMK2A	HP:0000737	Irritability	0/14	OMIM:617798
815	CAMK2A	HP:0000750	Delayed speech and language development	13/14	OMIM:617798
815	CAMK2A	HP:0003097	Short femur	1/14	OMIM:617798
815	CAMK2A	HP:0030890	Hyperintensity of cerebral white matter on MRI	1/14	OMIM:617798
815	CAMK2A	HP:0000286	Epicanthus	1/14	OMIM:617798
815	CAMK2A	HP:0000256	Macrocephaly	2/14	OMIM:617798
815	CAMK2A	HP:0000252	Microcephaly	1/14	OMIM:617798
815	CAMK2A	HP:0000248	Brachycephaly	1/14	OMIM:617798
815	CAMK2A	HP:0001548	Overgrowth	1/14	OMIM:617798
815	CAMK2A	HP:0002857	Genu valgum	1/14	OMIM:617798
815	CAMK2A	HP:0001510	Growth delay	1/14	OMIM:617798
815	CAMK2A	HP:0032794	Myoclonic seizure	2/2	OMIM:618095
815	CAMK2A	HP:0001629	Ventricular septal defect	1/14	OMIM:617798
815	CAMK2A	HP:0011182	Interictal epileptiform activity	1/1	OMIM:618095
815	CAMK2A	HP:0000486	Strabismus	1/14	OMIM:617798
815	CAMK2A	HP:0000494	Downslanted palpebral fissures	2/14	OMIM:617798
815	CAMK2A	HP:0000505	Visual impairment	0/14	OMIM:617798
816	CAMK2B	HP:0002487	Hyperkinetic movements	1/10	OMIM:617799
816	CAMK2B	HP:0025116	Fetal distress	1/10	OMIM:617799
816	CAMK2B	HP:0002421	Poor head control	1/10	OMIM:617799
816	CAMK2B	HP:0003763	Bruxism	1/10	OMIM:617799
816	CAMK2B	HP:0001272	Cerebellar atrophy	1/10	OMIM:617799
816	CAMK2B	HP:0001250	Seizure	4/20	OMIM:617799
816	CAMK2B	HP:0001252	Hypotonia	6/10	OMIM:617799
816	CAMK2B	HP:0001251	Ataxia	1/10	OMIM:617799
816	CAMK2B	HP:0002579	Gastrointestinal dysmotility	1/10	OMIM:617799
816	CAMK2B	HP:0001249	Intellectual disability	-	OMIM:617799
816	CAMK2B	HP:0001263	Global developmental delay	8/10	OMIM:617799
816	CAMK2B	HP:0002540	Inability to walk	-	OMIM:617799
816	CAMK2B	HP:0000016	Urinary retention	1/10	OMIM:617799
816	CAMK2B	HP:0001344	Absent speech	3/10	OMIM:617799
816	CAMK2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:617799
816	CAMK2B	HP:0500093	Food allergy	1/10	OMIM:617799
816	CAMK2B	HP:0008936	Axial hypotonia	1/10	OMIM:617799
816	CAMK2B	HP:0002020	Gastroesophageal reflux	2/10	OMIM:617799
816	CAMK2B	HP:0011800	Midface retrusion	1/10	OMIM:617799
816	CAMK2B	HP:0002069	Bilateral tonic-clonic seizure	1/10	OMIM:617799
816	CAMK2B	HP:0002061	Lower limb spasticity	1/10	OMIM:617799
816	CAMK2B	HP:0002104	Apnea	3/10	OMIM:617799
816	CAMK2B	HP:0003593	Infantile onset	4/10	OMIM:617799
816	CAMK2B	HP:0003577	Congenital onset	6/10	OMIM:617799
816	CAMK2B	HP:0011968	Feeding difficulties	1/10	OMIM:617799
816	CAMK2B	HP:0002384	Focal impaired awareness seizure	1/10	OMIM:617799
816	CAMK2B	HP:0002360	Sleep abnormality	1/10	OMIM:617799
816	CAMK2B	HP:0002376	Developmental regression	1/10	OMIM:617799
816	CAMK2B	HP:0100660	Dyskinesia	1/10	OMIM:617799
816	CAMK2B	HP:0010819	Atonic seizure	1/10	OMIM:617799
816	CAMK2B	HP:0000639	Nystagmus	1/10	OMIM:617799
816	CAMK2B	HP:0000680	Delayed eruption of primary teeth	1/10	OMIM:617799
816	CAMK2B	HP:0000678	Dental crowding	1/10	OMIM:617799
816	CAMK2B	HP:0000687	Widely spaced teeth	1/10	OMIM:617799
816	CAMK2B	HP:0004322	Short stature	1/10	OMIM:617799
816	CAMK2B	HP:0004396	Poor appetite	1/10	OMIM:617799
816	CAMK2B	HP:0000737	Irritability	4/10	OMIM:617799
816	CAMK2B	HP:0000750	Delayed speech and language development	1/10	OMIM:617799
816	CAMK2B	HP:0000718	Aggressive behavior	2/10	OMIM:617799
816	CAMK2B	HP:0000729	Autistic behavior	2/10	OMIM:617799
816	CAMK2B	HP:0011445	Athetoid cerebral palsy	1/10	OMIM:617799
816	CAMK2B	HP:0000817	Reduced eye contact	3/10	OMIM:617799
816	CAMK2B	HP:0000958	Dry skin	1/10	OMIM:617799
816	CAMK2B	HP:0000970	Anhidrosis	1/10	OMIM:617799
816	CAMK2B	HP:0000964	Eczematoid dermatitis	2/10	OMIM:617799
816	CAMK2B	HP:0008070	Sparse hair	1/10	OMIM:617799
816	CAMK2B	HP:0000252	Microcephaly	5/10	OMIM:617799
816	CAMK2B	HP:0002883	Hyperventilation	1/10	OMIM:617799
816	CAMK2B	HP:0001518	Small for gestational age	1/10	OMIM:617799
816	CAMK2B	HP:0001510	Growth delay	2/10	OMIM:617799
816	CAMK2B	HP:0001605	Vocal cord paralysis	1/10	OMIM:617799
816	CAMK2B	HP:0000341	Narrow forehead	1/10	OMIM:617799
816	CAMK2B	HP:0000340	Sloping forehead	1/10	OMIM:617799
816	CAMK2B	HP:0000331	Short chin	1/10	OMIM:617799
816	CAMK2B	HP:0032988	Persistent head lag	2/10	OMIM:617799
816	CAMK2B	HP:0000483	Astigmatism	1/10	OMIM:617799
816	CAMK2B	HP:0000486	Strabismus	2/10	OMIM:617799
816	CAMK2B	HP:0000490	Deeply set eye	1/10	OMIM:617799
816	CAMK2B	HP:0012450	Chronic constipation	4/10	OMIM:617799
816	CAMK2B	HP:0000505	Visual impairment	-	OMIM:617799
816	CAMK2B	HP:0001816	Thin nail	1/10	OMIM:617799
816	CAMK2B	HP:0011220	Prominent forehead	1/10	OMIM:617799
816	CAMK2B	HP:0000565	Esotropia	2/10	OMIM:617799
816	CAMK2B	HP:0001875	Decreased total neutrophil count	1/10	OMIM:617799
818	CAMK2G	HP:0001156	Brachydactyly	-	OMIM:618522
818	CAMK2G	HP:0002465	Poor speech	1/1	OMIM:618522
818	CAMK2G	HP:0010864	Intellectual disability, severe	1/1	OMIM:618522
818	CAMK2G	HP:0001290	Generalized hypotonia	-	OMIM:618522
818	CAMK2G	HP:0001250	Seizure	0/1	OMIM:618522
818	CAMK2G	HP:0001263	Global developmental delay	1/1	OMIM:618522
818	CAMK2G	HP:0002553	Highly arched eyebrow	1/1	OMIM:618522
818	CAMK2G	HP:0000006	Autosomal dominant inheritance	-	OMIM:618522
818	CAMK2G	HP:0003593	Infantile onset	1/1	OMIM:618522
818	CAMK2G	HP:0003502	Mild short stature	-	OMIM:618522
818	CAMK2G	HP:0004279	Short palm	1/1	OMIM:618522
818	CAMK2G	HP:0000637	Long palpebral fissure	1/1	OMIM:618522
818	CAMK2G	HP:0004322	Short stature	1/1	OMIM:618522
818	CAMK2G	HP:0000750	Delayed speech and language development	1/1	OMIM:618522
818	CAMK2G	HP:0000742	Self-mutilation	1/1	OMIM:618522
818	CAMK2G	HP:0004425	Flat forehead	-	OMIM:618522
818	CAMK2G	HP:0000960	Sacral dimple	1/1	OMIM:618522
818	CAMK2G	HP:0000297	Facial hypotonia	-	OMIM:618522
818	CAMK2G	HP:0000256	Macrocephaly	-	OMIM:618522
818	CAMK2G	HP:0012368	Flat face	1/1	OMIM:618522
818	CAMK2G	HP:0000369	Low-set ears	-	OMIM:618522
818	CAMK2G	HP:0000341	Narrow forehead	1/1	OMIM:618522
818	CAMK2G	HP:0000343	Long philtrum	-	OMIM:618522
818	CAMK2G	HP:0000348	High forehead	-	OMIM:618522
818	CAMK2G	HP:0000486	Strabismus	1/1	OMIM:618522
818	CAMK2G	HP:0001773	Short foot	1/1	OMIM:618522
818	CAMK2G	HP:0000411	Protruding ear	-	OMIM:618522
818	CAMK2G	HP:0001808	Fragile nails	HP:0040284	OMIM:618522
818	CAMK2G	HP:0000545	Myopia	1/1	OMIM:618522
819	CAMLG	HP:0002421	Poor head control	1/1	OMIM:620201
819	CAMLG	HP:0001250	Seizure	1/1	OMIM:620201
819	CAMLG	HP:0001263	Global developmental delay	1/1	OMIM:620201
819	CAMLG	HP:0033725	Thin corpus callosum	1/1	OMIM:620201
819	CAMLG	HP:0000007	Autosomal recessive inheritance	-	OMIM:620201
819	CAMLG	HP:0008936	Axial hypotonia	1/1	OMIM:620201
819	CAMLG	HP:0002169	Clonus	1/1	OMIM:620201
819	CAMLG	HP:0003593	Infantile onset	1/1	OMIM:620201
819	CAMLG	HP:0002376	Developmental regression	1/1	OMIM:620201
819	CAMLG	HP:0011471	Gastrostomy tube feeding in infancy	1/1	OMIM:620201
819	CAMLG	HP:0003121	Limb joint contracture	1/1	OMIM:620201
819	CAMLG	HP:0100275	Diffuse cerebellar atrophy	1/1	OMIM:620201
819	CAMLG	HP:0034353	Appendicular spasticity	1/1	OMIM:620201
819	CAMLG	HP:0012301	Type II transferrin isoform profile	1/1	OMIM:620201
823	CAPN1	HP:0002497	Spastic ataxia	2/2	OMIM:616907
823	CAPN1	HP:0001272	Cerebellar atrophy	1/1	OMIM:616907
823	CAPN1	HP:0001288	Gait disturbance	2/8	OMIM:616907
823	CAPN1	HP:0001251	Ataxia	4/9	OMIM:616907
823	CAPN1	HP:0001251	Ataxia	HP:0040282	ORPHA:488594
823	CAPN1	HP:0001260	Dysarthria	11/13	OMIM:616907
823	CAPN1	HP:0001260	Dysarthria	HP:0040282	ORPHA:488594
823	CAPN1	HP:0001258	Spastic paraplegia	7/8	OMIM:616907
823	CAPN1	HP:0007350	Upper limb hyperreflexia	7/8	OMIM:616907
823	CAPN1	HP:0007350	Upper limb hyperreflexia	HP:0040282	ORPHA:488594
823	CAPN1	HP:0007340	Lower limb muscle weakness	6/8	OMIM:616907
823	CAPN1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:488594
823	CAPN1	HP:0002505	Loss of ambulation	3/4	OMIM:616907
823	CAPN1	HP:0000020	Urinary incontinence	2/8	OMIM:616907
823	CAPN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616907
823	CAPN1	HP:0000009	Functional abnormality of the bladder	HP:0040283	ORPHA:488594
823	CAPN1	HP:0001310	Dysmetria	6/12	OMIM:616907
823	CAPN1	HP:0002650	Scoliosis	1/8	OMIM:616907
823	CAPN1	HP:0002650	Scoliosis	HP:0040283	ORPHA:488594
823	CAPN1	HP:0002066	Gait ataxia	6/11	OMIM:616907
823	CAPN1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:488594
823	CAPN1	HP:0002061	Lower limb spasticity	11/12	OMIM:616907
823	CAPN1	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:488594
823	CAPN1	HP:0003390	Sensory axonal neuropathy	2/8	OMIM:616907
823	CAPN1	HP:0002070	Limb ataxia	3/3	OMIM:616907
823	CAPN1	HP:0002070	Limb ataxia	HP:0040283	ORPHA:488594
823	CAPN1	HP:0002141	Gait imbalance	6/6	OMIM:616907
823	CAPN1	HP:0003487	Babinski sign	8/10	OMIM:616907
823	CAPN1	HP:0003487	Babinski sign	HP:0040281	ORPHA:488594
823	CAPN1	HP:0002395	Lower limb hyperreflexia	9/9	OMIM:616907
823	CAPN1	HP:0002395	Lower limb hyperreflexia	HP:0040281	ORPHA:488594
823	CAPN1	HP:0009830	Peripheral neuropathy	2/8	OMIM:616907
823	CAPN1	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:488594
823	CAPN1	HP:0003621	Juvenile onset	3/4	OMIM:616907
823	CAPN1	HP:0006855	Cerebellar vermis atrophy	1/1	OMIM:616907
823	CAPN1	HP:0000639	Nystagmus	1/8	OMIM:616907
823	CAPN1	HP:0006986	Upper limb spasticity	3/4	OMIM:616907
823	CAPN1	HP:0011462	Young adult onset	11/13	OMIM:616907
823	CAPN1	HP:0011448	Ankle clonus	4/10	OMIM:616907
823	CAPN1	HP:0011448	Ankle clonus	HP:0040283	ORPHA:488594
823	CAPN1	HP:0003202	Skeletal muscle atrophy	2/8	OMIM:616907
823	CAPN1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:488594
823	CAPN1	HP:0034353	Appendicular spasticity	1/1	OMIM:616907
823	CAPN1	HP:0008081	Pes valgus	1/8	OMIM:616907
823	CAPN1	HP:0008081	Pes valgus	HP:0040283	ORPHA:488594
823	CAPN1	HP:0002936	Distal sensory impairment	1/8	OMIM:616907
823	CAPN1	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:488594
823	CAPN1	HP:0001761	Pes cavus	5/8	OMIM:616907
823	CAPN1	HP:0001761	Pes cavus	HP:0040282	ORPHA:488594
825	CAPN3	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:267
825	CAPN3	HP:0003701	Proximal muscle weakness	-	OMIM:618129
825	CAPN3	HP:0001288	Gait disturbance	-	OMIM:253600
825	CAPN3	HP:0001288	Gait disturbance	HP:0040282	ORPHA:267
825	CAPN3	HP:0001288	Gait disturbance	-	OMIM:618129
825	CAPN3	HP:0001239	Wrist flexion contracture	HP:0040283	ORPHA:267
825	CAPN3	HP:0007340	Lower limb muscle weakness	2/6	OMIM:253600
825	CAPN3	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:267
825	CAPN3	HP:0012037	Pectoralis amyotrophy	HP:0040282	ORPHA:267
825	CAPN3	HP:0001371	Flexion contracture	-	OMIM:253600
825	CAPN3	HP:0001371	Flexion contracture	HP:0040282	ORPHA:267
825	CAPN3	HP:0000007	Autosomal recessive inheritance	-	OMIM:253600
825	CAPN3	HP:0000006	Autosomal dominant inheritance	-	OMIM:618129
825	CAPN3	HP:0008981	Calf muscle hypertrophy	HP:0040282	ORPHA:267
825	CAPN3	HP:0008946	Pelvic girdle amyotrophy	HP:0040282	ORPHA:267
825	CAPN3	HP:0003326	Myalgia	-	OMIM:618129
825	CAPN3	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:267
825	CAPN3	HP:0003307	Hyperlordosis	-	OMIM:618129
825	CAPN3	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:267
825	CAPN3	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:267
825	CAPN3	HP:0003418	Back pain	-	OMIM:618129
825	CAPN3	HP:0003596	Middle age onset	8/29	OMIM:618129
825	CAPN3	HP:0003584	Late onset	1/29	OMIM:618129
825	CAPN3	HP:0003555	Muscle fiber splitting	-	OMIM:618129
825	CAPN3	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:267
825	CAPN3	HP:0003560	Muscular dystrophy	-	OMIM:253600
825	CAPN3	HP:0003560	Muscular dystrophy	HP:0040282	ORPHA:267
825	CAPN3	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:618129
825	CAPN3	HP:0032019	Muscle eosinophilia	6/6	OMIM:253600
825	CAPN3	HP:0010628	Facial palsy	HP:0040283	OMIM:253600
825	CAPN3	HP:0003691	Scapular winging	-	OMIM:253600
825	CAPN3	HP:0003691	Scapular winging	HP:0040282	ORPHA:267
825	CAPN3	HP:0003691	Scapular winging	-	OMIM:618129
825	CAPN3	HP:0003687	Centrally nucleated skeletal muscle fibers	-	OMIM:618129
825	CAPN3	HP:0100614	Myositis	-	OMIM:253600
825	CAPN3	HP:0007126	Proximal amyotrophy	-	OMIM:618129
825	CAPN3	HP:0007126	Proximal amyotrophy	-	OMIM:253600
825	CAPN3	HP:0002312	Clumsiness	2/6	OMIM:253600
825	CAPN3	HP:0003621	Juvenile onset	4/6	OMIM:253600
825	CAPN3	HP:0003621	Juvenile onset	1/29	OMIM:618129
825	CAPN3	HP:0009060	Scapular muscle atrophy	HP:0040282	ORPHA:267
825	CAPN3	HP:0009023	Abdominal wall muscle weakness	-	OMIM:618129
825	CAPN3	HP:0003089	Hamstring contractures	HP:0040282	ORPHA:267
825	CAPN3	HP:0011463	Childhood onset	2/6	OMIM:253600
825	CAPN3	HP:0011463	Childhood onset	1/29	OMIM:618129
825	CAPN3	HP:0011462	Young adult onset	19/29	OMIM:618129
825	CAPN3	HP:0003198	Myopathy	-	OMIM:618129
825	CAPN3	HP:0003236	Elevated circulating creatine kinase concentration	6/6	OMIM:253600
825	CAPN3	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:267
825	CAPN3	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:618129
825	CAPN3	HP:0005879	Congenital finger flexion contractures	HP:0040282	ORPHA:267
825	CAPN3	HP:0006466	Ankle flexion contracture	HP:0040282	ORPHA:267
825	CAPN3	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:267
825	CAPN3	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:267
825	CAPN3	HP:0012548	Fatty replacement of skeletal muscle	-	OMIM:618129
825	CAPN3	HP:0001880	Increased total eosinophil count	3/6	OMIM:253600
826	CAPNS1	HP:0025179	Ground-glass opacification	2/3	OMIM:620777
826	CAPNS1	HP:0031185	Increased circulating NT-proBNP concentration	2/3	OMIM:620777
826	CAPNS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620777
826	CAPNS1	HP:0005954	Pulmonary capillary hemangiomatosis	2/2	OMIM:620777
826	CAPNS1	HP:0002094	Dyspnea	5/5	OMIM:620777
826	CAPNS1	HP:0002092	Pulmonary arterial hypertension	3/3	OMIM:620777
826	CAPNS1	HP:0002093	Respiratory insufficiency	3/4	OMIM:620777
826	CAPNS1	HP:0002104	Apnea	4/4	OMIM:620777
826	CAPNS1	HP:0004749	Atrial flutter	1/4	OMIM:620777
826	CAPNS1	HP:0003593	Infantile onset	2/4	OMIM:620777
826	CAPNS1	HP:0033376	Alveolar septal thickening	1/1	OMIM:620777
826	CAPNS1	HP:0011463	Childhood onset	1/4	OMIM:620777
826	CAPNS1	HP:0011462	Young adult onset	1/4	OMIM:620777
826	CAPNS1	HP:0000961	Cyanosis	4/4	OMIM:620777
826	CAPNS1	HP:0001508	Failure to thrive	3/4	OMIM:620777
826	CAPNS1	HP:0001667	Right ventricular hypertrophy	2/3	OMIM:620777
826	CAPNS1	HP:0001678	Atrioventricular block	1/4	OMIM:620777
826	CAPNS1	HP:0001622	Premature birth	3/4	OMIM:620777
826	CAPNS1	HP:0001639	Hypertrophic cardiomyopathy	1/4	OMIM:620777
826	CAPNS1	HP:0032979	Hemosiderin-laden macrophages in bronchoalveolar fluid	1/1	OMIM:620777
826	CAPNS1	HP:0001708	Right ventricular failure	1/4	OMIM:620777
831	CAST	HP:0100825	Cheilitis	2/4	OMIM:616295
831	CAST	HP:0007421	Telangiectases of the cheeks	1/4	OMIM:616295
831	CAST	HP:0007530	Punctate palmoplantar hyperkeratosis	2/4	OMIM:616295
831	CAST	HP:0007502	Follicular hyperkeratosis	1/1	OMIM:616295
831	CAST	HP:0000007	Autosomal recessive inheritance	-	OMIM:616295
831	CAST	HP:0032541	Knuckle pad	1/4	OMIM:616295
831	CAST	HP:0002745	Oral leukoplakia	2/4	OMIM:616295
831	CAST	HP:0003593	Infantile onset	4/4	OMIM:616295
831	CAST	HP:0100792	Acantholysis	1/1	OMIM:616295
831	CAST	HP:0001030	Fragile skin	2/4	OMIM:616295
831	CAST	HP:0025092	Epidermal acanthosis	1/1	OMIM:616295
831	CAST	HP:0000989	Pruritus	1/4	OMIM:616295
831	CAST	HP:0000958	Dry skin	1/4	OMIM:616295
831	CAST	HP:0000962	Hyperkeratosis	1/1	OMIM:616295
831	CAST	HP:0008066	Abnormal blistering of the skin	4/4	OMIM:616295
831	CAST	HP:0040189	Scaling skin	4/4	OMIM:616295
831	CAST	HP:0030318	Angular cheilitis	3/4	OMIM:616295
831	CAST	HP:0001820	Leukonychia	4/4	OMIM:616295
831	CAST	HP:0001806	Onycholysis	1/4	OMIM:616295
833	CARS1	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:33364
833	CARS1	HP:0001197	Abnormality of prenatal development or birth	HP:0040283	ORPHA:33364
833	CARS1	HP:0410219	Hypoplasia of mandible relative to maxilla	HP:0040283	ORPHA:33364
833	CARS1	HP:0007266	Cerebral dysmyelination	HP:0040283	ORPHA:33364
833	CARS1	HP:0007256	Abnormal pyramidal sign	1/4	OMIM:618891
833	CARS1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:33364
833	CARS1	HP:0010862	Delayed fine motor development	4/4	OMIM:618891
833	CARS1	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:33364
833	CARS1	HP:0001276	Hypertonia	HP:0040283	ORPHA:33364
833	CARS1	HP:0001272	Cerebellar atrophy	1/4	OMIM:618891
833	CARS1	HP:0001256	Intellectual disability, mild	4/4	OMIM:618891
833	CARS1	HP:0001250	Seizure	1/4	OMIM:618891
833	CARS1	HP:0001252	Hypotonia	1/4	OMIM:618891
833	CARS1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:33364
833	CARS1	HP:0001260	Dysarthria	1/4	OMIM:618891
833	CARS1	HP:0001260	Dysarthria	HP:0040283	ORPHA:33364
833	CARS1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:33364
833	CARS1	HP:0001257	Spasticity	HP:0040283	ORPHA:33364
833	CARS1	HP:0002562	Low-set nipples	HP:0040283	ORPHA:33364
833	CARS1	HP:0007381	Congenital exfoliative erythroderma	HP:0040283	ORPHA:33364
833	CARS1	HP:0001217	Clubbing	HP:0040283	ORPHA:33364
833	CARS1	HP:0012043	Pendular nystagmus	1/4	OMIM:618891
833	CARS1	HP:0001371	Flexion contracture	1/4	OMIM:618891
833	CARS1	HP:0001373	Joint dislocation	HP:0040283	ORPHA:33364
833	CARS1	HP:0000041	Chordee	-	OMIM:618891
833	CARS1	HP:0000047	Hypospadias	-	OMIM:618891
833	CARS1	HP:0001348	Brisk reflexes	1/4	OMIM:618891
833	CARS1	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:33364
833	CARS1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:33364
833	CARS1	HP:0008872	Feeding difficulties in infancy	1/4	OMIM:618891
833	CARS1	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:33364
833	CARS1	HP:0007485	Absence of subcutaneous fat	HP:0040283	ORPHA:33364
833	CARS1	HP:0001332	Dystonia	1/4	OMIM:618891
833	CARS1	HP:0001338	Partial agenesis of the corpus callosum	HP:0040283	ORPHA:33364
833	CARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618891
833	CARS1	HP:0002616	Aortic root aneurysm	1/4	OMIM:618891
833	CARS1	HP:0000176	Submucous cleft hard palate	1/4	OMIM:618891
833	CARS1	HP:0007633	Bilateral microphthalmos	HP:0040283	ORPHA:33364
833	CARS1	HP:0002705	High, narrow palate	HP:0040283	ORPHA:33364
833	CARS1	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:33364
833	CARS1	HP:0007587	Numerous pigmented freckles	HP:0040283	ORPHA:33364
833	CARS1	HP:0000133	Gonadal dysgenesis	HP:0040283	ORPHA:33364
833	CARS1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:33364
833	CARS1	HP:0002719	Recurrent infections	HP:0040283	ORPHA:33364
833	CARS1	HP:0004684	Talipes valgus	1/4	OMIM:618891
833	CARS1	HP:0005978	Type II diabetes mellitus	2/4	OMIM:618891
833	CARS1	HP:0002080	Intention tremor	HP:0040283	ORPHA:33364
833	CARS1	HP:0002066	Gait ataxia	HP:0040283	ORPHA:33364
833	CARS1	HP:0002079	Hypoplasia of the corpus callosum	1/4	OMIM:618891
833	CARS1	HP:0002075	Dysdiadochokinesis	1/4	OMIM:618891
833	CARS1	HP:0002059	Cerebral atrophy	1/4	OMIM:618891
833	CARS1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:33364
833	CARS1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:33364
833	CARS1	HP:0002136	Broad-based gait	2/4	OMIM:618891
833	CARS1	HP:0002133	Status epilepticus	1/4	OMIM:618891
833	CARS1	HP:0002188	Delayed CNS myelination	1/4	OMIM:618891
833	CARS1	HP:0002197	Generalized-onset seizure	HP:0040283	ORPHA:33364
833	CARS1	HP:0002194	Delayed gross motor development	4/4	OMIM:618891
833	CARS1	HP:0010551	Paraplegia/paraparesis	HP:0040283	ORPHA:33364
833	CARS1	HP:0002213	Fine hair	3/4	OMIM:618891
833	CARS1	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:33364
833	CARS1	HP:0002299	Brittle hair	HP:0040283	ORPHA:33364
833	CARS1	HP:0002299	Brittle hair	-	OMIM:618891
833	CARS1	HP:0002293	Alopecia of scalp	HP:0040283	ORPHA:33364
833	CARS1	HP:0007034	Generalized hyperreflexia	HP:0040283	ORPHA:33364
833	CARS1	HP:0007018	Attention deficit hyperactivity disorder	1/4	OMIM:618891
833	CARS1	HP:0008391	Dystrophic fingernails	HP:0040283	ORPHA:33364
833	CARS1	HP:0008386	Aplasia/Hypoplasia of the nails	HP:0040283	ORPHA:33364
833	CARS1	HP:0002360	Sleep abnormality	1/4	OMIM:618891
833	CARS1	HP:0002370	Poor coordination	1/4	OMIM:618891
833	CARS1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:33364
833	CARS1	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:33364
833	CARS1	HP:4000007	Bronchoconstriction	HP:0040283	ORPHA:33364
833	CARS1	HP:0000639	Nystagmus	HP:0040283	ORPHA:33364
833	CARS1	HP:0000613	Photophobia	HP:0040283	ORPHA:33364
833	CARS1	HP:0000608	Macular degeneration	HP:0040283	ORPHA:33364
833	CARS1	HP:0000601	Hypotelorism	HP:0040283	ORPHA:33364
833	CARS1	HP:0001903	Anemia	HP:0040283	ORPHA:33364
833	CARS1	HP:0009055	Generalized limb muscle atrophy	1/4	OMIM:618891
833	CARS1	HP:0000656	Ectropion	HP:0040283	ORPHA:33364
833	CARS1	HP:0000670	Carious teeth	HP:0040283	ORPHA:33364
833	CARS1	HP:0004322	Short stature	2/4	OMIM:618891
833	CARS1	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:33364
833	CARS1	HP:0003079	Defective DNA repair after ultraviolet radiation damage	HP:0040283	ORPHA:33364
833	CARS1	HP:0000737	Irritability	1/4	OMIM:618891
833	CARS1	HP:0000750	Delayed speech and language development	4/4	OMIM:618891
833	CARS1	HP:0000716	Depression	1/4	OMIM:618891
833	CARS1	HP:0000722	Compulsive behaviors	1/4	OMIM:618891
833	CARS1	HP:0011448	Ankle clonus	1/4	OMIM:618891
833	CARS1	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:33364
833	CARS1	HP:0003139	Panhypogammaglobulinemia	HP:0040283	ORPHA:33364
833	CARS1	HP:0000823	Delayed puberty	1/4	OMIM:618891
833	CARS1	HP:0045055	Tiger tail banding	HP:0040283	ORPHA:33364
833	CARS1	HP:0100275	Diffuse cerebellar atrophy	HP:0040283	ORPHA:33364
833	CARS1	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:33364
833	CARS1	HP:0000958	Dry skin	HP:0040283	ORPHA:33364
833	CARS1	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:33364
833	CARS1	HP:0000938	Osteopenia	HP:0040283	ORPHA:33364
833	CARS1	HP:0008070	Sparse hair	-	OMIM:618891
833	CARS1	HP:0008064	Ichthyosis	HP:0040283	ORPHA:33364
833	CARS1	HP:0000286	Epicanthus	HP:0040283	ORPHA:33364
833	CARS1	HP:0000280	Coarse facial features	HP:0040283	ORPHA:33364
833	CARS1	HP:0000278	Retrognathia	HP:0040283	ORPHA:33364
833	CARS1	HP:0025548	Increased mean corpuscular hemoglobin concentration	HP:0040283	ORPHA:33364
833	CARS1	HP:0001598	Concave nail	HP:0040283	ORPHA:33364
833	CARS1	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:33364
833	CARS1	HP:0000252	Microcephaly	HP:0040283	ORPHA:33364
833	CARS1	HP:0000252	Microcephaly	2/4	OMIM:618891
833	CARS1	HP:0001531	Failure to thrive in infancy	2/4	OMIM:618891
833	CARS1	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:33364
833	CARS1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:33364
833	CARS1	HP:0001518	Small for gestational age	1/4	OMIM:618891
833	CARS1	HP:0001511	Intrauterine growth retardation	2/4	OMIM:618891
833	CARS1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:33364
833	CARS1	HP:0006538	Recurrent bronchopulmonary infections	HP:0040283	ORPHA:33364
833	CARS1	HP:0001618	Dysphonia	HP:0040283	ORPHA:33364
833	CARS1	HP:0002942	Thoracic kyphosis	HP:0040283	ORPHA:33364
833	CARS1	HP:0000341	Narrow forehead	1/4	OMIM:618891
833	CARS1	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:33364
833	CARS1	HP:0000348	High forehead	1/4	OMIM:618891
833	CARS1	HP:0000320	Bird-like facies	HP:0040283	ORPHA:33364
833	CARS1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33364
833	CARS1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:33364
833	CARS1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:33364
833	CARS1	HP:0001631	Atrial septal defect	1/4	OMIM:618891
833	CARS1	HP:0000483	Astigmatism	HP:0040283	ORPHA:33364
833	CARS1	HP:0000486	Strabismus	HP:0040283	ORPHA:33364
833	CARS1	HP:0000482	Microcornea	HP:0040283	ORPHA:33364
833	CARS1	HP:0000490	Deeply set eye	1/4	OMIM:618891
833	CARS1	HP:0000460	Narrow nose	2/4	OMIM:618891
833	CARS1	HP:0000411	Protruding ear	HP:0040283	ORPHA:33364
833	CARS1	HP:0001761	Pes cavus	1/4	OMIM:618891
833	CARS1	HP:0000519	Developmental cataract	HP:0040283	ORPHA:33364
833	CARS1	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:33364
833	CARS1	HP:0001809	Split nail	HP:0040283	ORPHA:33364
833	CARS1	HP:0001808	Fragile nails	HP:0040283	ORPHA:33364
833	CARS1	HP:0001807	Ridged nail	HP:0040283	ORPHA:33364
833	CARS1	HP:0000565	Esotropia	HP:0040283	ORPHA:33364
833	CARS1	HP:0000546	Retinal degeneration	HP:0040283	ORPHA:33364
833	CARS1	HP:0000545	Myopia	HP:0040283	ORPHA:33364
833	CARS1	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33364
835	CASP2	HP:0009905	Thin ear helix	1/3	OMIM:620653
835	CASP2	HP:0001250	Seizure	1/3	OMIM:620653
835	CASP2	HP:0001252	Hypotonia	2/3	OMIM:620653
835	CASP2	HP:0001249	Intellectual disability	6/6	OMIM:620653
835	CASP2	HP:0001263	Global developmental delay	3/3	OMIM:620653
835	CASP2	HP:0001257	Spasticity	1/3	OMIM:620653
835	CASP2	HP:0001347	Hyperreflexia	1/1	OMIM:620653
835	CASP2	HP:0001324	Muscle weakness	1/3	OMIM:620653
835	CASP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620653
835	CASP2	HP:0001302	Pachygyria	3/3	OMIM:620653
835	CASP2	HP:0007018	Attention deficit hyperactivity disorder	1/3	OMIM:620653
835	CASP2	HP:0002376	Developmental regression	1/1	OMIM:620653
835	CASP2	HP:0010751	Dimple chin	1/3	OMIM:620653
835	CASP2	HP:0000648	Optic atrophy	1/3	OMIM:620653
835	CASP2	HP:0000664	Synophrys	1/3	OMIM:620653
835	CASP2	HP:0000750	Delayed speech and language development	2/2	OMIM:620653
835	CASP2	HP:0000718	Aggressive behavior	1/3	OMIM:620653
835	CASP2	HP:0000729	Autistic behavior	1/3	OMIM:620653
835	CASP2	HP:0011463	Childhood onset	3/3	OMIM:620653
835	CASP2	HP:0000238	Hydrocephalus	1/3	OMIM:620653
835	CASP2	HP:0000219	Thin upper lip vermilion	1/3	OMIM:620653
835	CASP2	HP:0000358	Posteriorly rotated ears	1/3	OMIM:620653
835	CASP2	HP:0007933	Broad lateral eyebrow	1/3	OMIM:620653
835	CASP2	HP:0005274	Prominent nasal tip	1/3	OMIM:620653
835	CASP2	HP:0000582	Upslanted palpebral fissure	1/3	OMIM:620653
841	CASP8	HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	2/2	OMIM:607271
841	CASP8	HP:0000007	Autosomal recessive inheritance	-	OMIM:607271
841	CASP8	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
841	CASP8	HP:0000006	Autosomal dominant inheritance	-	OMIM:211980
841	CASP8	HP:0001442	Typified by somatic mosaicism	-	OMIM:114550
841	CASP8	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
841	CASP8	HP:0001442	Typified by somatic mosaicism	-	OMIM:211980
841	CASP8	HP:0001402	Hepatocellular carcinoma	-	OMIM:114550
841	CASP8	HP:0001413	Micronodular cirrhosis	-	OMIM:114550
841	CASP8	HP:0002716	Lymphadenopathy	2/2	OMIM:607271
841	CASP8	HP:0002720	Decreased circulating IgA concentration	1/2	OMIM:607271
841	CASP8	HP:0002028	Chronic diarrhea	1/2	OMIM:607271
841	CASP8	HP:0002099	Asthma	2/2	OMIM:607271
841	CASP8	HP:0002090	Pneumonia	2/2	OMIM:607271
841	CASP8	HP:0033222	Inverted CD4:CD8 ratio	2/2	OMIM:607271
841	CASP8	HP:0033278	Reduced CD95-induced lymphocyte apoptosis	2/2	OMIM:607271
841	CASP8	HP:0004322	Short stature	2/2	OMIM:607271
841	CASP8	HP:0004315	Decreased circulating IgG concentration	1/2	OMIM:607271
841	CASP8	HP:0003002	Breast carcinoma	-	OMIM:114480
841	CASP8	HP:0000964	Eczematoid dermatitis	2/2	OMIM:607271
841	CASP8	HP:0030078	Lung adenocarcinoma	-	OMIM:211980
841	CASP8	HP:0001508	Failure to thrive	2/2	OMIM:607271
841	CASP8	HP:0002850	Decreased circulating total IgM	1/2	OMIM:607271
841	CASP8	HP:0006572	Subacute progressive viral hepatitis	-	OMIM:114550
841	CASP8	HP:0006519	Alveolar cell carcinoma	-	OMIM:211980
841	CASP8	HP:0005384	Defective B cell activation	2/2	OMIM:607271
841	CASP8	HP:0005353	Recurrent herpes	2/2	OMIM:607271
841	CASP8	HP:0001744	Splenomegaly	2/2	OMIM:607271
841	CASP8	HP:0005425	Recurrent sinopulmonary infections	2/2	OMIM:607271
841	CASP8	HP:0005419	Decreased T cell activation	2/2	OMIM:607271
841	CASP8	HP:0030358	Non-small cell lung carcinoma	-	OMIM:211980
843	CASP10	HP:0032218	Decreased proportion of CD4-positive T cells	HP:0040283	ORPHA:3261
843	CASP10	HP:0100827	Increased total lymphocyte count	HP:0040283	ORPHA:3261
843	CASP10	HP:0001250	Seizure	HP:0040284	ORPHA:3261
843	CASP10	HP:0002583	Colitis	HP:0040284	ORPHA:3261
843	CASP10	HP:0031020	Bone marrow hypercellularity	HP:0040284	ORPHA:3261
843	CASP10	HP:0000083	Renal insufficiency	HP:0040284	ORPHA:3261
843	CASP10	HP:0000099	Glomerulonephritis	HP:0040283	ORPHA:3261
843	CASP10	HP:0001369	Arthritis	HP:0040284	ORPHA:3261
843	CASP10	HP:0025300	Malar rash	-	OMIM:603909
843	CASP10	HP:0002671	Basal cell carcinoma	HP:0040284	ORPHA:3261
843	CASP10	HP:0002665	Lymphoma	-	OMIM:605027
843	CASP10	HP:0000006	Autosomal dominant inheritance	-	OMIM:603909
843	CASP10	HP:0002633	Vasculitis	HP:0040283	ORPHA:3261
843	CASP10	HP:0002633	Vasculitis	-	OMIM:603909
843	CASP10	HP:0012190	T-cell lymphoma	HP:0040283	ORPHA:3261
843	CASP10	HP:0012191	B-cell lymphoma	HP:0040283	ORPHA:3261
843	CASP10	HP:0012189	Hodgkin lymphoma	HP:0040283	ORPHA:3261
843	CASP10	HP:0012126	Stomach cancer	-	OMIM:613659
843	CASP10	HP:0012115	Hepatitis	HP:0040283	ORPHA:3261
843	CASP10	HP:0410067	Increased level of L-fucose in urine	-	OMIM:613659
843	CASP10	HP:0000123	Nephritis	-	OMIM:603909
843	CASP10	HP:0000100	Nephrotic syndrome	-	OMIM:603909
843	CASP10	HP:0001442	Typified by somatic mosaicism	-	OMIM:613659
843	CASP10	HP:0002731	Decreased T cell apoptosis	-	OMIM:603909
843	CASP10	HP:0001402	Hepatocellular carcinoma	HP:0040284	ORPHA:3261
843	CASP10	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:3261
843	CASP10	HP:0002716	Lymphadenopathy	1/1	OMIM:603909
843	CASP10	HP:0002730	Chronic noninfectious lymphadenopathy	HP:0040281	ORPHA:3261
843	CASP10	HP:0002730	Chronic noninfectious lymphadenopathy	-	OMIM:603909
843	CASP10	HP:0002729	Follicular hyperplasia	-	OMIM:603909
843	CASP10	HP:0002725	Systemic lupus erythematosus	HP:0040284	ORPHA:3261
843	CASP10	HP:0033199	Increased circulating interleukin 10 concentration	HP:0040282	ORPHA:3261
843	CASP10	HP:0034447	Increased circulating interleukin 18 concentration	HP:0040283	ORPHA:3261
843	CASP10	HP:0003453	Antineutrophil antibody positivity	HP:0040283	ORPHA:3261
843	CASP10	HP:0003453	Antineutrophil antibody positivity	-	OMIM:603909
843	CASP10	HP:0003454	Platelet antibody positive	-	OMIM:603909
843	CASP10	HP:0002113	Pulmonary infiltrates	HP:0040284	ORPHA:3261
843	CASP10	HP:0003496	Increased circulating IgM level	-	OMIM:603909
843	CASP10	HP:0003493	Antinuclear antibody positivity	HP:0040283	ORPHA:3261
843	CASP10	HP:0003493	Antinuclear antibody positivity	-	OMIM:603909
843	CASP10	HP:0008209	Premature ovarian insufficiency	HP:0040284	ORPHA:3261
843	CASP10	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:3261
843	CASP10	HP:0002240	Hepatomegaly	1/1	OMIM:603909
843	CASP10	HP:0002239	Gastrointestinal hemorrhage	-	OMIM:603909
843	CASP10	HP:0003565	Elevated erythrocyte sedimentation rate	1/1	OMIM:603909
843	CASP10	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:3261
843	CASP10	HP:0010702	Increased circulating immunoglobulin concentration	HP:0040282	ORPHA:3261
843	CASP10	HP:0010619	Fibroadenoma of the breast	HP:0040284	ORPHA:3261
843	CASP10	HP:0004844	Coombs-positive hemolytic anemia	HP:0040283	ORPHA:3261
843	CASP10	HP:0004844	Coombs-positive hemolytic anemia	20/20	OMIM:603909
843	CASP10	HP:0001025	Urticaria	HP:0040283	ORPHA:3261
843	CASP10	HP:0001025	Urticaria	-	OMIM:603909
843	CASP10	HP:0002315	Headache	HP:0040284	ORPHA:3261
843	CASP10	HP:0100648	Neoplasm of the tongue	HP:0040284	ORPHA:3261
843	CASP10	HP:0100646	Thyroiditis	HP:0040283	ORPHA:3261
843	CASP10	HP:0003621	Juvenile onset	-	OMIM:603909
843	CASP10	HP:0003613	Antiphospholipid antibody positivity	HP:0040283	ORPHA:3261
843	CASP10	HP:0003613	Antiphospholipid antibody positivity	-	OMIM:603909
843	CASP10	HP:0005528	Bone marrow hypocellularity	HP:0040284	ORPHA:3261
843	CASP10	HP:0001971	Hypersplenism	HP:0040282	ORPHA:3261
843	CASP10	HP:0001973	Autoimmune thrombocytopenia	HP:0040282	ORPHA:3261
843	CASP10	HP:0001973	Autoimmune thrombocytopenia	-	OMIM:603909
843	CASP10	HP:0001923	Reticulocytosis	HP:0040283	ORPHA:3261
843	CASP10	HP:0001904	Autoimmune neutropenia	HP:0040282	ORPHA:3261
843	CASP10	HP:0001904	Autoimmune neutropenia	-	OMIM:603909
843	CASP10	HP:0004315	Decreased circulating IgG concentration	HP:0040283	ORPHA:3261
843	CASP10	HP:0040126	Abnormal circulating vitamin B12 concentration	HP:0040283	ORPHA:3261
843	CASP10	HP:0000854	Thyroid adenoma	HP:0040284	ORPHA:3261
843	CASP10	HP:0003237	Increased circulating IgG concentration	HP:0040282	ORPHA:3261
843	CASP10	HP:0003237	Increased circulating IgG concentration	-	OMIM:603909
843	CASP10	HP:0003212	Increased circulating IgE concentration	HP:0040283	ORPHA:3261
843	CASP10	HP:0030886	Abnormal T cell apoptosis	HP:0040282	ORPHA:3261
843	CASP10	HP:6000016	Elevated circulating vitamin B12 concentration	HP:0040283	ORPHA:3261
843	CASP10	HP:6000017	Elevated circulating soluble FASL concentration	HP:0040283	ORPHA:3261
843	CASP10	HP:0003262	Anti-smooth muscle antibody positivity	-	OMIM:603909
843	CASP10	HP:0003261	Increased circulating IgA concentration	HP:0040283	ORPHA:3261
843	CASP10	HP:0003261	Increased circulating IgA concentration	-	OMIM:603909
843	CASP10	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:3261
843	CASP10	HP:0000967	Petechiae	-	OMIM:603909
843	CASP10	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:3261
843	CASP10	HP:0031392	Abnormal CD4+ T cell subset proportion	HP:0040283	ORPHA:3261
843	CASP10	HP:0031393	Abnormal CD8+ T cell proportion	HP:0040283	ORPHA:3261
843	CASP10	HP:0030080	Burkitt lymphoma	HP:0040283	ORPHA:3261
843	CASP10	HP:0002890	Thyroid carcinoma	HP:0040284	ORPHA:3261
843	CASP10	HP:0002853	Increased HLA DR+ CD4+ T cell proportion	-	OMIM:603909
843	CASP10	HP:0002850	Decreased circulating total IgM	HP:0040283	ORPHA:3261
843	CASP10	HP:0002851	Elevated double-negative T cell proportion	1/1	OMIM:603909
843	CASP10	HP:0002851	Elevated double-negative T cell proportion	HP:0040282	ORPHA:3261
843	CASP10	HP:0002848	Decreased specific anti-polysaccharide antibody level	HP:0040283	ORPHA:3261
843	CASP10	HP:0005263	Gastritis	HP:0040284	ORPHA:3261
843	CASP10	HP:0002923	Rheumatoid factor positive	HP:0040283	ORPHA:3261
843	CASP10	HP:0002923	Rheumatoid factor positive	1/1	OMIM:603909
843	CASP10	HP:0002960	Autoimmunity	HP:0040281	ORPHA:3261
843	CASP10	HP:0002972	Reduced delayed hypersensitivity	-	OMIM:603909
843	CASP10	HP:0012490	Panniculitis	HP:0040284	ORPHA:3261
843	CASP10	HP:0011117	Abnormal circulating interleukin concentration	HP:0040282	ORPHA:3261
843	CASP10	HP:0001789	Hydrops fetalis	HP:0040284	ORPHA:3261
843	CASP10	HP:0011107	Recurrent aphthous stomatitis	HP:0040284	ORPHA:3261
843	CASP10	HP:0001744	Splenomegaly	HP:0040281	ORPHA:3261
843	CASP10	HP:0001744	Splenomegaly	1/1	OMIM:603909
843	CASP10	HP:0005404	Increased total B cell count	-	OMIM:603909
843	CASP10	HP:0005404	Increased total B cell count	HP:0040282	ORPHA:3261
843	CASP10	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:3261
843	CASP10	HP:0001891	Iron deficiency anemia	-	OMIM:603909
843	CASP10	HP:0001890	Autoimmune hemolytic anemia	HP:0040282	ORPHA:3261
843	CASP10	HP:0001890	Autoimmune hemolytic anemia	1/1	OMIM:603909
843	CASP10	HP:0001888	Decreased total lymphocyte count	HP:0040283	ORPHA:3261
843	CASP10	HP:0000554	Uveitis	HP:0040284	ORPHA:3261
843	CASP10	HP:0012539	Non-Hodgkin lymphoma	HP:0040283	ORPHA:3261
843	CASP10	HP:0001880	Increased total eosinophil count	HP:0040283	ORPHA:3261
843	CASP10	HP:0001880	Increased total eosinophil count	-	OMIM:603909
843	CASP10	HP:0001873	Thrombocytopenia	-	OMIM:603909
844	CASQ1	HP:0003701	Proximal muscle weakness	-	OMIM:616231
844	CASQ1	HP:0034940	Muscle fiber calsequestrin 1-containing inclusion bodies	2/2	OMIM:616231
844	CASQ1	HP:0001324	Muscle weakness	1/10	OMIM:616231
844	CASQ1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616231
844	CASQ1	HP:0003326	Myalgia	3/10	OMIM:616231
844	CASQ1	HP:0003326	Myalgia	HP:0040281	ORPHA:2593
844	CASQ1	HP:0003394	Muscle spasm	4/10	OMIM:616231
844	CASQ1	HP:0003394	Muscle spasm	HP:0040281	ORPHA:2593
844	CASQ1	HP:0003388	Easy fatigability	-	OMIM:616231
844	CASQ1	HP:0003473	Fatigable weakness	HP:0040281	ORPHA:2593
844	CASQ1	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:2593
844	CASQ1	HP:0003554	Type 2 muscle fiber atrophy	HP:0040283	ORPHA:2593
844	CASQ1	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:2593
844	CASQ1	HP:0003687	Centrally nucleated skeletal muscle fibers	HP:0040282	ORPHA:2593
844	CASQ1	HP:0003198	Myopathy	HP:0040281	ORPHA:88635
844	CASQ1	HP:0100301	Muscle fiber tubular inclusions	HP:0040281	ORPHA:2593
844	CASQ1	HP:0003236	Elevated circulating creatine kinase concentration	8/10	OMIM:616231
844	CASQ1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:88635
844	CASQ1	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040281	ORPHA:2593
845	CASQ2	HP:0001279	Syncope	8/9	OMIM:604772
845	CASQ2	HP:0001279	Syncope	HP:0040283	ORPHA:3286
845	CASQ2	HP:0001279	Syncope	2/2	OMIM:611938
845	CASQ2	HP:0001250	Seizure	-	OMIM:604772
845	CASQ2	HP:0001250	Seizure	-	OMIM:611938
845	CASQ2	HP:0000007	Autosomal recessive inheritance	-	OMIM:611938
845	CASQ2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
845	CASQ2	HP:0000006	Autosomal dominant inheritance	-	OMIM:604772
845	CASQ2	HP:0025478	Atrial standstill	3/6	OMIM:604772
845	CASQ2	HP:0011704	Sick sinus syndrome	1/6	OMIM:604772
845	CASQ2	HP:0004758	Effort-induced polymorphic ventricular tachycardia	5/6	OMIM:604772
845	CASQ2	HP:0004757	Paroxysmal atrial fibrillation	2/6	OMIM:604772
845	CASQ2	HP:0004756	Ventricular tachycardia	-	OMIM:604772
845	CASQ2	HP:0004756	Ventricular tachycardia	HP:0040281	ORPHA:3286
845	CASQ2	HP:0004756	Ventricular tachycardia	-	OMIM:611938
845	CASQ2	HP:0004755	Supraventricular tachycardia	HP:0040282	ORPHA:3286
845	CASQ2	HP:0002321	Vertigo	HP:0040282	ORPHA:3286
845	CASQ2	HP:0003621	Juvenile onset	1/4	OMIM:604772
845	CASQ2	HP:0034039	Ventricular couplet	1/4	OMIM:604772
845	CASQ2	HP:0034040	Bidirectional ventricular tachycardia	4/4	OMIM:604772
845	CASQ2	HP:0001962	Palpitations	HP:0040282	ORPHA:3286
845	CASQ2	HP:0011463	Childhood onset	2/4	OMIM:604772
845	CASQ2	HP:0011463	Childhood onset	2/2	OMIM:611938
845	CASQ2	HP:0011462	Young adult onset	1/4	OMIM:604772
845	CASQ2	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
845	CASQ2	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:3286
845	CASQ2	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:3286
845	CASQ2	HP:0001699	Sudden death	-	OMIM:611938
845	CASQ2	HP:0001664	Torsade de pointes	1/46	OMIM:115000
845	CASQ2	HP:0001678	Atrioventricular block	1/6	OMIM:604772
845	CASQ2	HP:0001645	Sudden cardiac death	-	OMIM:115000
845	CASQ2	HP:0001645	Sudden cardiac death	12/16	OMIM:604772
845	CASQ2	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:3286
845	CASQ2	HP:0001644	Dilated cardiomyopathy	2/6	OMIM:604772
845	CASQ2	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:3286
845	CASQ2	HP:0001663	Ventricular fibrillation	-	OMIM:115000
845	CASQ2	HP:0001662	Bradycardia	-	OMIM:611938
845	CASQ2	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
845	CASQ2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
845	CASQ2	HP:0006673	Reduced systolic function	3/6	OMIM:604772
845	CASQ2	HP:0031677	Polymorphic ventricular tachycardia	HP:0040282	ORPHA:3286
845	CASQ2	HP:0031677	Polymorphic ventricular tachycardia	2/2	OMIM:611938
846	CASR	HP:0003761	Calcinosis	-	OMIM:239200
846	CASR	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
846	CASR	HP:0001293	Cranial nerve compression	-	OMIM:131300
846	CASR	HP:0001290	Generalized hypotonia	-	OMIM:239200
846	CASR	HP:0001281	Tetany	1/14	OMIM:601198
846	CASR	HP:0001250	Seizure	9/9	OMIM:612899
846	CASR	HP:0001250	Seizure	9/27	OMIM:601198
846	CASR	HP:0001252	Hypotonia	-	OMIM:239200
846	CASR	HP:0001252	Hypotonia	HP:0040281	ORPHA:417
846	CASR	HP:0001252	Hypotonia	2/7	OMIM:615777
846	CASR	HP:0001249	Intellectual disability	5/7	OMIM:615777
846	CASR	HP:0001263	Global developmental delay	-	OMIM:615777
846	CASR	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:428
846	CASR	HP:0007400	Irregular hyperpigmentation	HP:0040283	ORPHA:428
846	CASR	HP:0002515	Waddling gait	54/102	OMIM:131300
846	CASR	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:428
846	CASR	HP:0001382	Joint hypermobility	-	OMIM:615777
846	CASR	HP:0002694	Sclerosis of skull base	-	OMIM:131300
846	CASR	HP:0008897	Postnatal growth retardation	-	OMIM:615777
846	CASR	HP:0008872	Feeding difficulties in infancy	-	OMIM:239200
846	CASR	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
846	CASR	HP:0001324	Muscle weakness	40/96	OMIM:131300
846	CASR	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
846	CASR	HP:0000007	Autosomal recessive inheritance	-	OMIM:239200
846	CASR	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
846	CASR	HP:0000006	Autosomal dominant inheritance	-	OMIM:612899
846	CASR	HP:0000006	Autosomal dominant inheritance	-	OMIM:239200
846	CASR	HP:0000006	Autosomal dominant inheritance	-	OMIM:601198
846	CASR	HP:0000006	Autosomal dominant inheritance	-	OMIM:145980
846	CASR	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
846	CASR	HP:0001336	Myoclonus	4/9	OMIM:612899
846	CASR	HP:0002650	Scoliosis	12/14	OMIM:131300
846	CASR	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
846	CASR	HP:0002615	Hypotension	HP:0040282	ORPHA:428
846	CASR	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
846	CASR	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
846	CASR	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
846	CASR	HP:0000175	Cleft palate	2/7	OMIM:615777
846	CASR	HP:0025425	Laryngospasm	1/7	OMIM:601198
846	CASR	HP:0000121	Nephrocalcinosis	HP:0040282	ORPHA:428
846	CASR	HP:0000121	Nephrocalcinosis	12/27	OMIM:601198
846	CASR	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:428
846	CASR	HP:0002789	Tachypnea	-	OMIM:239200
846	CASR	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:417
846	CASR	HP:0002757	Recurrent fractures	-	OMIM:239200
846	CASR	HP:0000103	Polyuria	-	OMIM:239200
846	CASR	HP:0003355	Aminoaciduria	HP:0040281	ORPHA:417
846	CASR	HP:0003355	Aminoaciduria	-	OMIM:239200
846	CASR	HP:0002019	Constipation	-	OMIM:239200
846	CASR	HP:0002027	Abdominal pain	HP:0040282	ORPHA:428
846	CASR	HP:0002027	Abdominal pain	HP:0040281	ORPHA:676
846	CASR	HP:0100530	Abnormal circulating calcium-phosphate regulating hormone concentration	HP:0040281	ORPHA:417
846	CASR	HP:0002094	Dyspnea	-	OMIM:239200
846	CASR	HP:0002069	Bilateral tonic-clonic seizure	4/9	OMIM:612899
846	CASR	HP:0003394	Muscle spasm	7/7	OMIM:601198
846	CASR	HP:0003388	Easy fatigability	36/76	OMIM:131300
846	CASR	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
846	CASR	HP:0003473	Fatigable weakness	HP:0040281	ORPHA:428
846	CASR	HP:0002150	Hypercalciuria	HP:0040281	ORPHA:428
846	CASR	HP:0002150	Hypercalciuria	9/20	OMIM:601198
846	CASR	HP:0002150	Hypercalciuria	HP:0040284	OMIM:145980
846	CASR	HP:0002150	Hypercalciuria	-	OMIM:239200
846	CASR	HP:0002148	Hypophosphatemia	-	OMIM:239200
846	CASR	HP:0002121	Generalized non-motor (absence) seizure	2/9	OMIM:612899
846	CASR	HP:0002135	Basal ganglia calcification	3/27	OMIM:601198
846	CASR	HP:0003457	EMG abnormality	HP:0040281	ORPHA:428
846	CASR	HP:0008200	Primary hyperparathyroidism	-	OMIM:239200
846	CASR	HP:0003401	Paresthesia	HP:0040281	ORPHA:428
846	CASR	HP:0003401	Paresthesia	3/7	OMIM:601198
846	CASR	HP:0002240	Hepatomegaly	-	OMIM:239200
846	CASR	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:417
846	CASR	HP:0003510	Severe short stature	7/7	OMIM:615777
846	CASR	HP:0002384	Focal impaired awareness seizure	2/9	OMIM:612899
846	CASR	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/9	OMIM:612899
846	CASR	HP:0002356	Writer's cramp	HP:0040281	ORPHA:428
846	CASR	HP:0002315	Headache	-	OMIM:131300
846	CASR	HP:0004976	Knee dislocation	6/7	OMIM:615777
846	CASR	HP:0009803	Short phalanx of finger	-	OMIM:615777
846	CASR	HP:0009763	Limb pain	63/92	OMIM:131300
846	CASR	HP:0003621	Juvenile onset	1/1	OMIM:612899
846	CASR	HP:0003621	Juvenile onset	-	OMIM:131300
846	CASR	HP:0003621	Juvenile onset	1/7	OMIM:601198
846	CASR	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
846	CASR	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
846	CASR	HP:0031817	Decreased circulating parathyroid hormone level	2/7	OMIM:601198
846	CASR	HP:6001056	Out-toeing	-	OMIM:131300
846	CASR	HP:0000651	Diplopia	-	OMIM:131300
846	CASR	HP:0000648	Optic atrophy	HP:0040283	ORPHA:428
846	CASR	HP:0001974	Increased total leukocyte count	HP:0040281	ORPHA:676
846	CASR	HP:0012608	Hypermagnesiuria	HP:0040282	ORPHA:428
846	CASR	HP:0001959	Polydipsia	-	OMIM:239200
846	CASR	HP:0001956	Truncal obesity	2/7	OMIM:615777
846	CASR	HP:0001903	Anemia	-	OMIM:239200
846	CASR	HP:0001903	Anemia	HP:0040283	OMIM:131300
846	CASR	HP:0010049	Short metacarpal	-	OMIM:615777
846	CASR	HP:0000678	Dental crowding	-	OMIM:615777
846	CASR	HP:0000670	Carious teeth	-	OMIM:131300
846	CASR	HP:0011304	Broad thumb	2/7	OMIM:615777
846	CASR	HP:0000668	Hypodontia	-	OMIM:615777
846	CASR	HP:0000664	Synophrys	-	OMIM:615777
846	CASR	HP:0004322	Short stature	HP:0040281	ORPHA:417
846	CASR	HP:0004322	Short stature	HP:0040283	OMIM:601198
846	CASR	HP:0003072	Hypercalcemia	1/1	OMIM:145980
846	CASR	HP:0003072	Hypercalcemia	-	OMIM:239200
846	CASR	HP:0004396	Poor appetite	-	OMIM:131300
846	CASR	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
846	CASR	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
846	CASR	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:428
846	CASR	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
846	CASR	HP:0003026	Short long bone	7/7	OMIM:615777
846	CASR	HP:0003025	Metaphyseal irregularity	-	OMIM:239200
846	CASR	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
846	CASR	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:428
846	CASR	HP:0000767	Pectus excavatum	2/7	OMIM:615777
846	CASR	HP:0000768	Pectus carinatum	1/7	OMIM:615777
846	CASR	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
846	CASR	HP:0100027	Recurrent pancreatitis	HP:0040281	ORPHA:676
846	CASR	HP:0000739	Anxiety	HP:0040281	ORPHA:428
846	CASR	HP:0000750	Delayed speech and language development	-	OMIM:615777
846	CASR	HP:0000716	Depression	HP:0040281	ORPHA:428
846	CASR	HP:0000712	Emotional lability	HP:0040281	ORPHA:428
846	CASR	HP:0000708	Atypical behavior	HP:0040281	ORPHA:428
846	CASR	HP:0011463	Childhood onset	5/7	OMIM:601198
846	CASR	HP:0011462	Young adult onset	1/7	OMIM:601198
846	CASR	HP:0011461	Fetal onset	7/7	OMIM:615777
846	CASR	HP:0000774	Narrow chest	-	OMIM:239200
846	CASR	HP:0000774	Narrow chest	HP:0040281	ORPHA:417
846	CASR	HP:0000774	Narrow chest	2/7	OMIM:615777
846	CASR	HP:0000787	Nephrolithiasis	4/20	OMIM:601198
846	CASR	HP:0000787	Nephrolithiasis	-	OMIM:145980
846	CASR	HP:0003109	Hyperphosphaturia	-	OMIM:239200
846	CASR	HP:0000926	Platyspondyly	1/7	OMIM:615777
846	CASR	HP:0003180	Flat acetabular roof	-	OMIM:615777
846	CASR	HP:0004482	Relative macrocephaly	-	OMIM:615777
846	CASR	HP:0003165	Elevated circulating parathyroid hormone level	-	OMIM:239200
846	CASR	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
846	CASR	HP:0003127	Hypocalciuria	1/1	OMIM:145980
846	CASR	HP:0000848	Increased circulating renin concentration	HP:0040283	OMIM:601198
846	CASR	HP:0000843	Hyperparathyroidism	-	OMIM:145980
846	CASR	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:676
846	CASR	HP:0000823	Delayed puberty	-	OMIM:131300
846	CASR	HP:0000820	Abnormality of the thyroid gland	HP:0040281	ORPHA:417
846	CASR	HP:0000894	Short clavicles	-	OMIM:615777
846	CASR	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
846	CASR	HP:0000958	Dry skin	HP:0040282	ORPHA:428
846	CASR	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
846	CASR	HP:0000952	Jaundice	HP:0040283	ORPHA:676
846	CASR	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:428
846	CASR	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:417
846	CASR	HP:0040148	Cortical myoclonus	HP:0040281	ORPHA:428
846	CASR	HP:0011675	Arrhythmia	HP:0040282	ORPHA:428
846	CASR	HP:0000286	Epicanthus	1/7	OMIM:615777
846	CASR	HP:0000280	Coarse facial features	2/7	OMIM:615777
846	CASR	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:428
846	CASR	HP:0001596	Alopecia	HP:0040282	ORPHA:428
846	CASR	HP:0002827	Hip dislocation	3/7	OMIM:615777
846	CASR	HP:0002897	Parathyroid adenoma	-	OMIM:145980
846	CASR	HP:0000252	Microcephaly	-	OMIM:615777
846	CASR	HP:0012213	Decreased glomerular filtration rate	2/20	OMIM:601198
846	CASR	HP:0002857	Genu valgum	-	OMIM:131300
846	CASR	HP:0001533	Slender build	-	OMIM:131300
846	CASR	HP:0001508	Failure to thrive	-	OMIM:239200
846	CASR	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
846	CASR	HP:0007807	Optic nerve compression	-	OMIM:131300
846	CASR	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040282	ORPHA:676
846	CASR	HP:0012368	Flat face	7/7	OMIM:615777
846	CASR	HP:0005213	Pancreatic calcification	HP:0040283	ORPHA:676
846	CASR	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
846	CASR	HP:0002917	Hypomagnesemia	HP:0040282	ORPHA:428
846	CASR	HP:0002917	Hypomagnesemia	16/20	OMIM:601198
846	CASR	HP:0002918	Hypermagnesemia	1/1	OMIM:145980
846	CASR	HP:0002905	Hyperphosphatemia	HP:0040282	ORPHA:428
846	CASR	HP:0002905	Hyperphosphatemia	5/7	OMIM:601198
846	CASR	HP:0002900	Hypokalemia	HP:0040283	OMIM:601198
846	CASR	HP:0002901	Hypocalcemia	HP:0040281	ORPHA:428
846	CASR	HP:0002901	Hypocalcemia	41/41	OMIM:601198
846	CASR	HP:0000365	Hearing impairment	10/67	OMIM:131300
846	CASR	HP:0000343	Long philtrum	1/7	OMIM:615777
846	CASR	HP:0011001	Increased bone mineral density	-	OMIM:131300
846	CASR	HP:0000311	Round face	2/7	OMIM:615777
846	CASR	HP:0002970	Genu varum	-	OMIM:615777
846	CASR	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:428
846	CASR	HP:0000303	Mandibular prognathia	-	OMIM:131300
846	CASR	HP:0001733	Pancreatitis	-	OMIM:145980
846	CASR	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
846	CASR	HP:0030247	Splanchnic vein thrombosis	HP:0040283	ORPHA:676
846	CASR	HP:0000470	Short neck	1/7	OMIM:615777
846	CASR	HP:0001769	Broad foot	HP:0040283	OMIM:615777
846	CASR	HP:0001763	Pes planus	1/7	OMIM:615777
846	CASR	HP:0001744	Splenomegaly	-	OMIM:239200
846	CASR	HP:0001744	Splenomegaly	HP:0040281	ORPHA:417
846	CASR	HP:0001840	Metatarsus adductus	-	OMIM:615777
846	CASR	HP:0000520	Proptosis	2/4	OMIM:131300
846	CASR	HP:0000520	Proptosis	7/7	OMIM:615777
846	CASR	HP:0000592	Blue sclerae	2/7	OMIM:615777
846	CASR	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040281	ORPHA:676
846	CASR	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
846	CASR	HP:0012514	Lower limb pain	4/4	OMIM:131300
847	CAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:614097
847	CAT	HP:0002634	Arteriosclerosis	HP:0040284	ORPHA:926
847	CAT	HP:0001300	Parkinsonism	HP:0040284	ORPHA:926
847	CAT	HP:0000166	Severe periodontitis	HP:0040283	ORPHA:926
847	CAT	HP:0000155	Oral ulcer	HP:0040282	ORPHA:926
847	CAT	HP:0000155	Oral ulcer	-	OMIM:614097
847	CAT	HP:0006357	Premature loss of permanent teeth	HP:0040284	ORPHA:926
847	CAT	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:926
847	CAT	HP:0100753	Schizophrenia	HP:0040284	ORPHA:926
847	CAT	HP:0100758	Gangrene	HP:0040283	ORPHA:926
847	CAT	HP:0001045	Vitiligo	HP:0040284	ORPHA:926
847	CAT	HP:0100651	Type I diabetes mellitus	HP:0040284	ORPHA:926
847	CAT	HP:0100605	Neoplasm of the larynx	HP:0040284	ORPHA:926
847	CAT	HP:0001935	Microcytic anemia	HP:0040283	ORPHA:926
847	CAT	HP:0040113	Old-aged sensorineural hearing impairment	HP:0040283	ORPHA:926
847	CAT	HP:0000230	Gingivitis	HP:0040283	ORPHA:926
847	CAT	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:926
847	CAT	HP:0012531	Pain	HP:0040284	ORPHA:926
847	CAT	HP:0012517	Reduced circulating catalase activity	HP:0040281	ORPHA:926
847	CAT	HP:0012517	Reduced circulating catalase activity	-	OMIM:614097
857	CAV1	HP:0100958	Narrow foramen obturatorium	HP:0040281	ORPHA:220393
857	CAV1	HP:0100958	Narrow foramen obturatorium	HP:0040281	ORPHA:220402
857	CAV1	HP:0009938	Sunken cheeks	1/2	OMIM:606721
857	CAV1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:612526
857	CAV1	HP:0003758	Reduced subcutaneous adipose tissue	1/2	OMIM:606721
857	CAV1	HP:0001278	Orthostatic hypotension	1/3	OMIM:606721
857	CAV1	HP:0007340	Lower limb muscle weakness	2/3	OMIM:606721
857	CAV1	HP:0003829	Typified by incomplete penetrance	-	OMIM:615343
857	CAV1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:220393
857	CAV1	HP:0001397	Hepatic steatosis	-	OMIM:612526
857	CAV1	HP:0001371	Flexion contracture	HP:0040282	ORPHA:220393
857	CAV1	HP:0001369	Arthritis	HP:0040282	ORPHA:220393
857	CAV1	HP:0001347	Hyperreflexia	-	OMIM:606721
857	CAV1	HP:0007485	Absence of subcutaneous fat	-	OMIM:606721
857	CAV1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:220393
857	CAV1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612526
857	CAV1	HP:0000006	Autosomal dominant inheritance	-	OMIM:606721
857	CAV1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615343
857	CAV1	HP:0001310	Dysmetria	-	OMIM:606721
857	CAV1	HP:0000160	Narrow mouth	1/2	OMIM:606721
857	CAV1	HP:0002797	Osteolysis	HP:0040282	ORPHA:220393
857	CAV1	HP:0000103	Polyuria	1/2	OMIM:606721
857	CAV1	HP:0001433	Hepatosplenomegaly	-	OMIM:612526
857	CAV1	HP:0002024	Malabsorption	HP:0040282	ORPHA:220393
857	CAV1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220402
857	CAV1	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:220393
857	CAV1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:220402
857	CAV1	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:220393
857	CAV1	HP:0005995	Decreased adipose tissue around neck	-	OMIM:606721
857	CAV1	HP:0002014	Diarrhea	1/2	OMIM:606721
857	CAV1	HP:0002015	Dysphagia	1/2	OMIM:606721
857	CAV1	HP:0002015	Dysphagia	HP:0040282	ORPHA:220402
857	CAV1	HP:0002015	Dysphagia	HP:0040282	ORPHA:220393
857	CAV1	HP:0002013	Vomiting	1/2	OMIM:606721
857	CAV1	HP:0002094	Dyspnea	-	OMIM:615343
857	CAV1	HP:0002094	Dyspnea	HP:0040281	ORPHA:220393
857	CAV1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:220402
857	CAV1	HP:0002092	Pulmonary arterial hypertension	1/2	OMIM:606721
857	CAV1	HP:0002092	Pulmonary arterial hypertension	-	OMIM:615343
857	CAV1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:220393
857	CAV1	HP:0002066	Gait ataxia	-	OMIM:606721
857	CAV1	HP:0002075	Dysdiadochokinesis	2/3	OMIM:606721
857	CAV1	HP:0100520	Oliguria	HP:0040281	ORPHA:220393
857	CAV1	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:220402
857	CAV1	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:220393
857	CAV1	HP:0100579	Mucosal telangiectasiae	HP:0040282	ORPHA:220402
857	CAV1	HP:0040270	Impaired glucose tolerance	-	OMIM:606721
857	CAV1	HP:0009473	Joint contracture of the hand	HP:0040283	ORPHA:220402
857	CAV1	HP:0002155	Hypertriglyceridemia	-	OMIM:612526
857	CAV1	HP:0002155	Hypertriglyceridemia	3/3	OMIM:606721
857	CAV1	HP:0003487	Babinski sign	1/3	OMIM:606721
857	CAV1	HP:0002113	Pulmonary infiltrates	HP:0040281	ORPHA:220393
857	CAV1	HP:0002108	Spontaneous pneumothorax	1/2	OMIM:606721
857	CAV1	HP:0002169	Clonus	-	OMIM:606721
857	CAV1	HP:0003596	Middle age onset	1/7	OMIM:615343
857	CAV1	HP:0003593	Infantile onset	-	OMIM:612526
857	CAV1	HP:0003577	Congenital onset	2/3	OMIM:606721
857	CAV1	HP:0002240	Hepatomegaly	-	OMIM:612526
857	CAV1	HP:0003584	Late onset	1/7	OMIM:615343
857	CAV1	HP:0004890	Elevated pulmonary artery pressure	-	OMIM:615343
857	CAV1	HP:0002202	Pleural effusion	1/2	OMIM:606721
857	CAV1	HP:0002209	Sparse scalp hair	1/2	OMIM:606721
857	CAV1	HP:0002206	Pulmonary fibrosis	HP:0040283	ORPHA:220402
857	CAV1	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:220393
857	CAV1	HP:0100735	Hypertensive crisis	HP:0040283	ORPHA:220393
857	CAV1	HP:0008366	Foot joint contracture	HP:0040283	ORPHA:220402
857	CAV1	HP:0011968	Feeding difficulties	1/2	OMIM:606721
857	CAV1	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:220402
857	CAV1	HP:0001007	Hirsutism	-	OMIM:612526
857	CAV1	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:220402
857	CAV1	HP:0100651	Type I diabetes mellitus	2/3	OMIM:606721
857	CAV1	HP:0200042	Skin ulcer	HP:0040282	ORPHA:220402
857	CAV1	HP:0200042	Skin ulcer	HP:0040282	ORPHA:220393
857	CAV1	HP:0009762	Facial wrinkling	1/2	OMIM:606721
857	CAV1	HP:0003623	Neonatal onset	2/2	OMIM:606721
857	CAV1	HP:0003635	Loss of subcutaneous adipose tissue in limbs	-	OMIM:606721
857	CAV1	HP:0003621	Juvenile onset	1/7	OMIM:615343
857	CAV1	HP:0000639	Nystagmus	1/3	OMIM:606721
857	CAV1	HP:0001952	Glucose intolerance	-	OMIM:606721
857	CAV1	HP:0009064	Generalized lipodystrophy	-	OMIM:612526
857	CAV1	HP:0000670	Carious teeth	HP:0040282	ORPHA:220393
857	CAV1	HP:0004322	Short stature	-	OMIM:612526
857	CAV1	HP:0100027	Recurrent pancreatitis	2/3	OMIM:606721
857	CAV1	HP:0011463	Childhood onset	3/7	OMIM:615343
857	CAV1	HP:0011462	Young adult onset	1/3	OMIM:606721
857	CAV1	HP:0011462	Young adult onset	1/7	OMIM:615343
857	CAV1	HP:0009125	Lipodystrophy	-	OMIM:612526
857	CAV1	HP:0009125	Lipodystrophy	4/5	OMIM:606721
857	CAV1	HP:0000786	Primary amenorrhea	-	OMIM:612526
857	CAV1	HP:0003124	Hypercholesterolemia	-	OMIM:612526
857	CAV1	HP:0003124	Hypercholesterolemia	1/3	OMIM:606721
857	CAV1	HP:0003196	Short nose	1/2	OMIM:606721
857	CAV1	HP:0000855	Insulin resistance	-	OMIM:612526
857	CAV1	HP:0000855	Insulin resistance	1/3	OMIM:606721
857	CAV1	HP:0000819	Diabetes mellitus	-	OMIM:612526
857	CAV1	HP:0000822	Hypertension	1/3	OMIM:606721
857	CAV1	HP:0000958	Dry skin	1/2	OMIM:606721
857	CAV1	HP:0000956	Acanthosis nigricans	-	OMIM:612526
857	CAV1	HP:0000956	Acanthosis nigricans	2/3	OMIM:606721
857	CAV1	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:220402
857	CAV1	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:220393
857	CAV1	HP:0000965	Cutis marmorata	2/2	OMIM:606721
857	CAV1	HP:0000963	Thin skin	1/2	OMIM:606721
857	CAV1	HP:0008070	Sparse hair	1/2	OMIM:606721
857	CAV1	HP:0002829	Arthralgia	HP:0040282	ORPHA:220393
857	CAV1	HP:0000239	Large fontanelles	1/2	OMIM:606721
857	CAV1	HP:0000217	Xerostomia	HP:0040282	ORPHA:220393
857	CAV1	HP:0030016	Dyspareunia	HP:0040282	ORPHA:220393
857	CAV1	HP:0001508	Failure to thrive	1/2	OMIM:606721
857	CAV1	HP:0001518	Small for gestational age	1/2	OMIM:606721
857	CAV1	HP:0006548	Pulmonary arteriovenous malformation	1/2	OMIM:606721
857	CAV1	HP:0002936	Distal sensory impairment	2/3	OMIM:606721
857	CAV1	HP:0002901	Hypocalcemia	-	OMIM:612526
857	CAV1	HP:0000360	Tinnitus	1/3	OMIM:606721
857	CAV1	HP:0000369	Low-set ears	1/2	OMIM:606721
857	CAV1	HP:0030142	Abnormal bowel sounds	HP:0040283	ORPHA:220393
857	CAV1	HP:0000325	Triangular face	2/2	OMIM:606721
857	CAV1	HP:0002960	Autoimmunity	HP:0040281	ORPHA:220402
857	CAV1	HP:0002960	Autoimmunity	HP:0040281	ORPHA:220393
857	CAV1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:220393
857	CAV1	HP:0005328	Progeroid facial appearance	1/2	OMIM:606721
857	CAV1	HP:0005320	Lack of facial subcutaneous fat	-	OMIM:606721
857	CAV1	HP:0005317	Increased pulmonary vascular resistance	-	OMIM:615343
857	CAV1	HP:0000418	Narrow nasal ridge	1/2	OMIM:606721
857	CAV1	HP:0001744	Splenomegaly	-	OMIM:612526
857	CAV1	HP:0000518	Cataract	1/2	OMIM:606721
857	CAV1	HP:0000519	Developmental cataract	2/3	OMIM:606721
857	CAV1	HP:0000580	Pigmentary retinopathy	2/3	OMIM:606721
859	CAV3	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
859	CAV3	HP:0003750	Increased muscle fatiguability	-	OMIM:123320
859	CAV3	HP:0003760	Percussion-induced rapid rolling muscle contractions	-	OMIM:606072
859	CAV3	HP:0003760	Percussion-induced rapid rolling muscle contractions	HP:0040283	ORPHA:488650
859	CAV3	HP:0003722	Neck flexor weakness	1/1	OMIM:614321
859	CAV3	HP:0003738	Exercise-induced myalgia	-	OMIM:606072
859	CAV3	HP:0003737	Mitochondrial myopathy	-	OMIM:123320
859	CAV3	HP:0003707	Calf muscle pseudohypertrophy	HP:0040282	ORPHA:488650
859	CAV3	HP:0003701	Proximal muscle weakness	8/8	OMIM:606072
859	CAV3	HP:0003719	Muscle mounding	-	OMIM:606072
859	CAV3	HP:0003712	Skeletal muscle hypertrophy	-	OMIM:606072
859	CAV3	HP:0003710	Exercise-induced muscle cramps	-	OMIM:123320
859	CAV3	HP:0003710	Exercise-induced muscle cramps	2/8	OMIM:606072
859	CAV3	HP:0001284	Areflexia	-	ORPHA:488650
859	CAV3	HP:0001279	Syncope	HP:0040282	ORPHA:101016
859	CAV3	HP:0001279	Syncope	3/6	OMIM:611818
859	CAV3	HP:0001250	Seizure	HP:0040283	ORPHA:101016
859	CAV3	HP:0003803	Type 1 muscle fiber predominance	1/1	OMIM:614321
859	CAV3	HP:0000006	Autosomal dominant inheritance	-	OMIM:123320
859	CAV3	HP:0000006	Autosomal dominant inheritance	-	OMIM:192600
859	CAV3	HP:0000006	Autosomal dominant inheritance	-	OMIM:606072
859	CAV3	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
859	CAV3	HP:0000006	Autosomal dominant inheritance	-	OMIM:614321
859	CAV3	HP:0000006	Autosomal dominant inheritance	-	OMIM:611818
859	CAV3	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:614321
859	CAV3	HP:0008981	Calf muscle hypertrophy	8/8	OMIM:606072
859	CAV3	HP:0008981	Calf muscle hypertrophy	-	OMIM:614321
859	CAV3	HP:0008962	Calf muscle hypoplasia	HP:0040283	ORPHA:488650
859	CAV3	HP:0008967	Exercise-induced muscle stiffness	-	OMIM:606072
859	CAV3	HP:0008954	Intrinsic hand muscle atrophy	1/1	OMIM:614321
859	CAV3	HP:0008954	Intrinsic hand muscle atrophy	HP:0040282	ORPHA:488650
859	CAV3	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
859	CAV3	HP:0003326	Myalgia	-	OMIM:123320
859	CAV3	HP:0003326	Myalgia	HP:0040284	ORPHA:488650
859	CAV3	HP:0003394	Muscle spasm	-	OMIM:123320
859	CAV3	HP:0003391	Gowers sign	4/4	OMIM:606072
859	CAV3	HP:0003457	EMG abnormality	-	OMIM:606072
859	CAV3	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:488650
859	CAV3	HP:0003458	EMG: myopathic abnormalities	-	OMIM:123320
859	CAV3	HP:0003560	Muscular dystrophy	-	OMIM:123320
859	CAV3	HP:0003559	Muscle hyperirritability	-	OMIM:606072
859	CAV3	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:614321
859	CAV3	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:488650
859	CAV3	HP:0100749	Chest pain	1/6	OMIM:611818
859	CAV3	HP:0008331	Elevated creatine kinase after exercise	-	ORPHA:206599
859	CAV3	HP:0003687	Centrally nucleated skeletal muscle fibers	1/1	OMIM:614321
859	CAV3	HP:0025070	Abnormal U wave	1/6	OMIM:611818
859	CAV3	HP:0002312	Clumsiness	HP:0040283	ORPHA:488650
859	CAV3	HP:0003621	Juvenile onset	1/1	OMIM:614321
859	CAV3	HP:0003621	Juvenile onset	4/6	OMIM:611818
859	CAV3	HP:0003621	Juvenile onset	8/8	OMIM:606072
859	CAV3	HP:0009071	Inflammatory myopathy	-	OMIM:123320
859	CAV3	HP:0001962	Palpitations	1/1	OMIM:614321
859	CAV3	HP:0001962	Palpitations	HP:0040284	ORPHA:488650
859	CAV3	HP:0009063	Progressive distal muscle weakness	HP:0040282	ORPHA:488650
859	CAV3	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040282	ORPHA:488650
859	CAV3	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:614321
859	CAV3	HP:0004303	Abnormal muscle fiber morphology	-	OMIM:123320
859	CAV3	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
859	CAV3	HP:0004308	Ventricular arrhythmia	-	OMIM:611818
859	CAV3	HP:0003124	Hypercholesterolemia	HP:0040283	ORPHA:488650
859	CAV3	HP:0003198	Myopathy	-	OMIM:123320
859	CAV3	HP:0003198	Myopathy	1/1	OMIM:614321
859	CAV3	HP:0003198	Myopathy	-	ORPHA:206599
859	CAV3	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040282	ORPHA:488650
859	CAV3	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:123320
859	CAV3	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040280	ORPHA:206599
859	CAV3	HP:0003236	Elevated circulating creatine kinase concentration	8/8	OMIM:606072
859	CAV3	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:614321
859	CAV3	HP:0011675	Arrhythmia	-	OMIM:192600
859	CAV3	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
859	CAV3	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
859	CAV3	HP:0030089	Abnormal muscle fiber protein expression	HP:0040282	ORPHA:488650
859	CAV3	HP:0012378	Fatigue	-	OMIM:123320
859	CAV3	HP:0002936	Distal sensory impairment	-	ORPHA:488650
859	CAV3	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
859	CAV3	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
859	CAV3	HP:0000365	Hearing impairment	-	ORPHA:101016
859	CAV3	HP:0001695	Cardiac arrest	1/6	OMIM:611818
859	CAV3	HP:0001688	Sinus bradycardia	2/5	OMIM:611818
859	CAV3	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
859	CAV3	HP:0001699	Sudden death	-	OMIM:192600
859	CAV3	HP:0001670	Asymmetric septal hypertrophy	-	OMIM:192600
859	CAV3	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
859	CAV3	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
859	CAV3	HP:0001664	Torsade de pointes	1/46	OMIM:115000
859	CAV3	HP:0001682	Subvalvular aortic stenosis	-	OMIM:192600
859	CAV3	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
859	CAV3	HP:0001645	Sudden cardiac death	-	OMIM:115000
859	CAV3	HP:0001663	Ventricular fibrillation	-	OMIM:115000
859	CAV3	HP:0001657	Prolonged QT interval	6/6	OMIM:611818
859	CAV3	HP:0001635	Congestive heart failure	-	OMIM:192600
859	CAV3	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
859	CAV3	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
859	CAV3	HP:0030237	Hand muscle weakness	1/1	OMIM:614321
859	CAV3	HP:0000467	Neck muscle weakness	HP:0040284	ORPHA:488650
859	CAV3	HP:0025710	Late young adult onset	2/6	OMIM:611818
859	CAV3	HP:0001761	Pes cavus	-	OMIM:614321
859	CAV3	HP:0001761	Pes cavus	HP:0040282	ORPHA:488650
860	RUNX2	HP:0001172	Abnormal thumb morphology	HP:0040283	ORPHA:1452
860	RUNX2	HP:0001182	Tapered finger	HP:0040283	ORPHA:1452
860	RUNX2	HP:0001156	Brachydactyly	-	OMIM:119600
860	RUNX2	HP:0001156	Brachydactyly	HP:0040282	ORPHA:1452
860	RUNX2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
860	RUNX2	HP:0001293	Cranial nerve compression	-	OMIM:131300
860	RUNX2	HP:0001252	Hypotonia	2/7	OMIM:615777
860	RUNX2	HP:0001249	Intellectual disability	5/7	OMIM:615777
860	RUNX2	HP:0001263	Global developmental delay	-	OMIM:615777
860	RUNX2	HP:0100864	Short femoral neck	-	OMIM:119600
860	RUNX2	HP:0006040	Long second metacarpal	-	OMIM:119600
860	RUNX2	HP:0002515	Waddling gait	54/102	OMIM:131300
860	RUNX2	HP:0001382	Joint hypermobility	-	OMIM:615777
860	RUNX2	HP:0002684	Thickened calvaria	-	OMIM:119600
860	RUNX2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
860	RUNX2	HP:0002689	Absent paranasal sinuses	-	OMIM:119600
860	RUNX2	HP:0002688	Absent frontal sinuses	-	OMIM:119600
860	RUNX2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
860	RUNX2	HP:0008848	Moderately short stature	-	OMIM:119600
860	RUNX2	HP:0008821	Hypoplastic inferior ilia	HP:0040281	ORPHA:1452
860	RUNX2	HP:0008788	Delayed pubic bone ossification	-	OMIM:119600
860	RUNX2	HP:0002659	Increased susceptibility to fractures	-	OMIM:119600
860	RUNX2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
860	RUNX2	HP:0001324	Muscle weakness	40/96	OMIM:131300
860	RUNX2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
860	RUNX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
860	RUNX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:156510
860	RUNX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
860	RUNX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:119600
860	RUNX2	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:1452
860	RUNX2	HP:0002650	Scoliosis	HP:0040283	ORPHA:1452
860	RUNX2	HP:0002650	Scoliosis	12/14	OMIM:131300
860	RUNX2	HP:0002650	Scoliosis	-	OMIM:119600
860	RUNX2	HP:0002645	Wormian bones	-	OMIM:119600
860	RUNX2	HP:0002645	Wormian bones	HP:0040281	ORPHA:1452
860	RUNX2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
860	RUNX2	HP:0002643	Neonatal respiratory distress	-	OMIM:119600
860	RUNX2	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040283	ORPHA:1452
860	RUNX2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
860	RUNX2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
860	RUNX2	HP:6000872	Aplasia/Hypoplasia of the calvaria	-	OMIM:119600
860	RUNX2	HP:6000875	Wide sacroiliac joint	-	OMIM:119600
860	RUNX2	HP:0000189	Narrow palate	-	OMIM:119600
860	RUNX2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
860	RUNX2	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:1452
860	RUNX2	HP:0000162	Glossoptosis	HP:0040283	ORPHA:1452
860	RUNX2	HP:0000175	Cleft palate	-	OMIM:119600
860	RUNX2	HP:0000175	Cleft palate	2/7	OMIM:615777
860	RUNX2	HP:0000175	Cleft palate	HP:0040283	ORPHA:1452
860	RUNX2	HP:0002705	High, narrow palate	-	OMIM:119600
860	RUNX2	HP:0002705	High, narrow palate	HP:0040281	ORPHA:1452
860	RUNX2	HP:0002700	Large foramen magnum	-	OMIM:119600
860	RUNX2	HP:0006297	Enamel hypoplasia	-	OMIM:119600
860	RUNX2	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:1452
860	RUNX2	HP:0002738	Hypoplastic frontal sinuses	-	OMIM:119600
860	RUNX2	HP:0002007	Frontal bossing	1/1	OMIM:119600
860	RUNX2	HP:0002007	Frontal bossing	HP:0040281	ORPHA:1452
860	RUNX2	HP:0003304	Spondylolysis	-	OMIM:119600
860	RUNX2	HP:0003302	Spondylolisthesis	-	OMIM:119600
860	RUNX2	HP:0011800	Midface retrusion	-	OMIM:119600
860	RUNX2	HP:0011800	Midface retrusion	HP:0040282	ORPHA:1452
860	RUNX2	HP:0002098	Respiratory distress	-	OMIM:119600
860	RUNX2	HP:0003396	Syringomyelia	-	OMIM:119600
860	RUNX2	HP:0003388	Easy fatigability	36/76	OMIM:131300
860	RUNX2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
860	RUNX2	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:1452
860	RUNX2	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:1452
860	RUNX2	HP:0009577	Short middle phalanx of the 2nd finger	-	OMIM:119600
860	RUNX2	HP:0009577	Short middle phalanx of the 2nd finger	-	OMIM:156510
860	RUNX2	HP:0010535	Sleep apnea	HP:0040283	ORPHA:1452
860	RUNX2	HP:0003577	Congenital onset	3/3	OMIM:119600
860	RUNX2	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:1452
860	RUNX2	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040281	ORPHA:1452
860	RUNX2	HP:0003510	Severe short stature	7/7	OMIM:615777
860	RUNX2	HP:0008391	Dystrophic fingernails	HP:0040283	ORPHA:1452
860	RUNX2	HP:0002315	Headache	-	OMIM:131300
860	RUNX2	HP:0004976	Knee dislocation	6/7	OMIM:615777
860	RUNX2	HP:0200021	Down-sloping shoulders	HP:0040281	ORPHA:1452
860	RUNX2	HP:0010807	Open bite	HP:0040282	ORPHA:1452
860	RUNX2	HP:0009803	Short phalanx of finger	-	OMIM:615777
860	RUNX2	HP:0010751	Dimple chin	HP:0040282	ORPHA:1452
860	RUNX2	HP:0009763	Limb pain	63/92	OMIM:131300
860	RUNX2	HP:0003621	Juvenile onset	-	OMIM:131300
860	RUNX2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
860	RUNX2	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:1452
860	RUNX2	HP:0004220	Short middle phalanx of the 5th finger	-	OMIM:119600
860	RUNX2	HP:0004220	Short middle phalanx of the 5th finger	-	OMIM:156510
860	RUNX2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
860	RUNX2	HP:6001056	Out-toeing	-	OMIM:131300
860	RUNX2	HP:0000651	Diplopia	-	OMIM:131300
860	RUNX2	HP:0001956	Truncal obesity	2/7	OMIM:615777
860	RUNX2	HP:0001903	Anemia	HP:0040283	OMIM:131300
860	RUNX2	HP:0010049	Short metacarpal	-	OMIM:615777
860	RUNX2	HP:0010047	Short 5th metacarpal	-	OMIM:156510
860	RUNX2	HP:0000696	Delayed eruption of permanent teeth	-	OMIM:119600
860	RUNX2	HP:0000682	Abnormal dental enamel morphology	HP:0040281	ORPHA:1452
860	RUNX2	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:1452
860	RUNX2	HP:0000680	Delayed eruption of primary teeth	-	OMIM:119600
860	RUNX2	HP:0000678	Dental crowding	-	OMIM:615777
860	RUNX2	HP:0000670	Carious teeth	-	OMIM:131300
860	RUNX2	HP:0000670	Carious teeth	HP:0040281	ORPHA:1452
860	RUNX2	HP:0011304	Broad thumb	2/7	OMIM:615777
860	RUNX2	HP:0000668	Hypodontia	-	OMIM:615777
860	RUNX2	HP:0000664	Synophrys	-	OMIM:615777
860	RUNX2	HP:0004322	Short stature	HP:0040281	ORPHA:1452
860	RUNX2	HP:0004322	Short stature	-	OMIM:156510
860	RUNX2	HP:0004322	Short stature	2/3	OMIM:119600
860	RUNX2	HP:0004331	Decreased skull ossification	HP:0040282	ORPHA:1452
860	RUNX2	HP:0005625	Osteoporosis of vertebrae	-	OMIM:156510
860	RUNX2	HP:0004396	Poor appetite	-	OMIM:131300
860	RUNX2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
860	RUNX2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
860	RUNX2	HP:0003015	Flared metaphysis	-	OMIM:156510
860	RUNX2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
860	RUNX2	HP:0003026	Short long bone	7/7	OMIM:615777
860	RUNX2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
860	RUNX2	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:1452
860	RUNX2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
860	RUNX2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
860	RUNX2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
860	RUNX2	HP:0000750	Delayed speech and language development	-	OMIM:615777
860	RUNX2	HP:0011461	Fetal onset	7/7	OMIM:615777
860	RUNX2	HP:0000774	Narrow chest	-	OMIM:119600
860	RUNX2	HP:0000774	Narrow chest	2/7	OMIM:615777
860	RUNX2	HP:0000774	Narrow chest	HP:0040281	ORPHA:1452
860	RUNX2	HP:0000773	Short ribs	-	OMIM:119600
860	RUNX2	HP:0000926	Platyspondyly	1/7	OMIM:615777
860	RUNX2	HP:0000926	Platyspondyly	-	OMIM:156510
860	RUNX2	HP:0003183	Wide pubic symphysis	-	OMIM:119600
860	RUNX2	HP:0003180	Flat acetabular roof	-	OMIM:615777
860	RUNX2	HP:0004482	Relative macrocephaly	-	OMIM:615777
860	RUNX2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
860	RUNX2	HP:0004474	Persistent open anterior fontanelle	-	OMIM:119600
860	RUNX2	HP:0000882	Hypoplastic scapulae	-	OMIM:119600
860	RUNX2	HP:0000882	Hypoplastic scapulae	HP:0040283	ORPHA:1452
860	RUNX2	HP:0000891	Cervical ribs	-	OMIM:119600
860	RUNX2	HP:0000823	Delayed puberty	-	OMIM:131300
860	RUNX2	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	-	OMIM:119600
860	RUNX2	HP:0000894	Short clavicles	-	OMIM:615777
860	RUNX2	HP:0000894	Short clavicles	1/3	OMIM:119600
860	RUNX2	HP:0000894	Short clavicles	HP:0040281	ORPHA:1452
860	RUNX2	HP:0005877	Multiple small vertebral fractures	-	OMIM:156510
860	RUNX2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
860	RUNX2	HP:0003298	Spina bifida occulta	HP:0040282	ORPHA:1452
860	RUNX2	HP:0100255	Metaphyseal dysplasia	-	OMIM:156510
860	RUNX2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
860	RUNX2	HP:0000939	Osteoporosis	HP:0040282	ORPHA:1452
860	RUNX2	HP:0000286	Epicanthus	1/7	OMIM:615777
860	RUNX2	HP:0000280	Coarse facial features	2/7	OMIM:615777
860	RUNX2	HP:0000256	Macrocephaly	HP:0040283	ORPHA:1452
860	RUNX2	HP:0000272	Malar flattening	1/3	OMIM:119600
860	RUNX2	HP:0005107	Abnormal sacrum morphology	HP:0040282	ORPHA:1452
860	RUNX2	HP:0002812	Coxa vara	1/3	OMIM:119600
860	RUNX2	HP:0002812	Coxa vara	HP:0040283	ORPHA:1452
860	RUNX2	HP:0002827	Hip dislocation	1/3	OMIM:119600
860	RUNX2	HP:0002827	Hip dislocation	3/7	OMIM:615777
860	RUNX2	HP:0002808	Kyphosis	-	OMIM:119600
860	RUNX2	HP:0000242	Parietal bossing	1/1	OMIM:119600
860	RUNX2	HP:0000239	Large fontanelles	2/3	OMIM:119600
860	RUNX2	HP:0000239	Large fontanelles	HP:0040281	ORPHA:1452
860	RUNX2	HP:0000252	Microcephaly	-	OMIM:615777
860	RUNX2	HP:0000246	Sinusitis	HP:0040282	ORPHA:1452
860	RUNX2	HP:0000248	Brachycephaly	HP:0040283	ORPHA:1452
860	RUNX2	HP:0000218	High palate	-	OMIM:119600
860	RUNX2	HP:0000233	Thin vermilion border	-	OMIM:156510
860	RUNX2	HP:0002857	Genu valgum	-	OMIM:131300
860	RUNX2	HP:0002857	Genu valgum	HP:0040283	ORPHA:1452
860	RUNX2	HP:0001533	Slender build	-	OMIM:131300
860	RUNX2	HP:0002866	Hypoplastic iliac wing	-	OMIM:119600
860	RUNX2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
860	RUNX2	HP:0007807	Optic nerve compression	-	OMIM:131300
860	RUNX2	HP:0011069	Supernumerary tooth	1/1	OMIM:119600
860	RUNX2	HP:0011069	Supernumerary tooth	HP:0040281	ORPHA:1452
860	RUNX2	HP:0012368	Flat face	7/7	OMIM:615777
860	RUNX2	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:1452
860	RUNX2	HP:0005259	Abnormal facility in opposing the shoulders	1/1	OMIM:119600
860	RUNX2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
860	RUNX2	HP:0006480	Premature loss of teeth	-	OMIM:156510
860	RUNX2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:1452
860	RUNX2	HP:0000365	Hearing impairment	10/67	OMIM:131300
860	RUNX2	HP:0000365	Hearing impairment	-	OMIM:119600
860	RUNX2	HP:0000364	Hearing abnormality	HP:0040282	ORPHA:1452
860	RUNX2	HP:0000340	Sloping forehead	HP:0040281	ORPHA:1452
860	RUNX2	HP:0000343	Long philtrum	1/7	OMIM:615777
860	RUNX2	HP:0011001	Increased bone mineral density	-	OMIM:131300
860	RUNX2	HP:0011001	Increased bone mineral density	-	OMIM:119600
860	RUNX2	HP:0000337	Broad forehead	HP:0040283	ORPHA:1452
860	RUNX2	HP:0000347	Micrognathia	HP:0040281	ORPHA:1452
860	RUNX2	HP:0000347	Micrognathia	-	OMIM:119600
860	RUNX2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1452
860	RUNX2	HP:0000316	Hypertelorism	-	OMIM:119600
860	RUNX2	HP:0000311	Round face	2/7	OMIM:615777
860	RUNX2	HP:0000327	Hypoplasia of the maxilla	-	OMIM:156510
860	RUNX2	HP:0000322	Short philtrum	-	OMIM:156510
860	RUNX2	HP:0002970	Genu varum	-	OMIM:615777
860	RUNX2	HP:0000303	Mandibular prognathia	-	OMIM:131300
860	RUNX2	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:1452
860	RUNX2	HP:0006660	Aplastic clavicle	2/3	OMIM:119600
860	RUNX2	HP:0005280	Depressed nasal bridge	1/1	OMIM:119600
860	RUNX2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
860	RUNX2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1452
860	RUNX2	HP:0000470	Short neck	1/7	OMIM:615777
860	RUNX2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
860	RUNX2	HP:0001763	Pes planus	1/7	OMIM:615777
860	RUNX2	HP:0000444	Convex nasal ridge	-	OMIM:156510
860	RUNX2	HP:0000431	Wide nasal bridge	1/3	OMIM:119600
860	RUNX2	HP:0001840	Metatarsus adductus	-	OMIM:615777
860	RUNX2	HP:0000520	Proptosis	2/4	OMIM:131300
860	RUNX2	HP:0000520	Proptosis	7/7	OMIM:615777
860	RUNX2	HP:0001810	Dystrophic toenail	HP:0040283	ORPHA:1452
860	RUNX2	HP:0000592	Blue sclerae	2/7	OMIM:615777
860	RUNX2	HP:0011219	Short face	HP:0040282	ORPHA:1452
860	RUNX2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
860	RUNX2	HP:0012514	Lower limb pain	4/4	OMIM:131300
861	RUNX1	HP:0025142	Constitutional symptom	HP:0040282	ORPHA:98850
861	RUNX1	HP:0100845	Anaphylactic shock	HP:0040282	ORPHA:98850
861	RUNX1	HP:0002665	Lymphoma	-	OMIM:601399
861	RUNX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:601399
861	RUNX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:601626
861	RUNX1	HP:0002653	Bone pain	HP:0040282	ORPHA:98850
861	RUNX1	HP:0002615	Hypotension	HP:0040282	ORPHA:98850
861	RUNX1	HP:0002797	Osteolysis	HP:0040283	ORPHA:98850
861	RUNX1	HP:0031284	Flushing	HP:0040282	ORPHA:98850
861	RUNX1	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:98850
861	RUNX1	HP:0001442	Typified by somatic mosaicism	-	OMIM:601626
861	RUNX1	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:98850
861	RUNX1	HP:0001410	Decreased liver function	HP:0040283	ORPHA:98850
861	RUNX1	HP:0001409	Portal hypertension	HP:0040283	ORPHA:98850
861	RUNX1	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:98850
861	RUNX1	HP:0002024	Malabsorption	HP:0040282	ORPHA:98850
861	RUNX1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:98850
861	RUNX1	HP:0002014	Diarrhea	HP:0040282	ORPHA:98850
861	RUNX1	HP:0002039	Anorexia	HP:0040282	ORPHA:98850
861	RUNX1	HP:0100494	Abnormal mast cell morphology	HP:0040281	ORPHA:98850
861	RUNX1	HP:0011870	Impaired arachidonic acid-induced platelet aggregation	1/1	OMIM:601399
861	RUNX1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:98850
861	RUNX1	HP:0003540	Impaired platelet aggregation	14/14	OMIM:601399
861	RUNX1	HP:0004866	Impaired ADP-induced platelet aggregation	1/1	OMIM:601399
861	RUNX1	HP:0008320	Impaired collagen-induced platelet aggregation	1/1	OMIM:601399
861	RUNX1	HP:0004845	Acute monocytic leukemia	1/1	OMIM:601399
861	RUNX1	HP:0004808	Acute myeloid leukemia	-	OMIM:601626
861	RUNX1	HP:0004808	Acute myeloid leukemia	3/14	OMIM:601399
861	RUNX1	HP:0001025	Urticaria	HP:0040283	ORPHA:98850
861	RUNX1	HP:0032155	Abdominal cramps	HP:0040282	ORPHA:98850
861	RUNX1	HP:0005547	Myeloproliferative disorder	HP:0040280	ORPHA:521
861	RUNX1	HP:0001971	Hypersplenism	HP:0040283	ORPHA:98850
861	RUNX1	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:98850
861	RUNX1	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:521
861	RUNX1	HP:0001945	Fever	HP:0040282	ORPHA:521
861	RUNX1	HP:0001909	Leukemia	HP:0040283	ORPHA:98850
861	RUNX1	HP:0001903	Anemia	HP:0040283	ORPHA:98850
861	RUNX1	HP:0001911	Abnormal granulocyte morphology	HP:0040282	ORPHA:521
861	RUNX1	HP:0001912	Abnormal basophil morphology	HP:0040282	ORPHA:521
861	RUNX1	HP:0004396	Poor appetite	HP:0040282	ORPHA:521
861	RUNX1	HP:0031901	Elevated total serum tryptase	HP:0040282	ORPHA:98850
861	RUNX1	HP:0004377	Hematological neoplasm	HP:0040283	ORPHA:98850
861	RUNX1	HP:0003010	Prolonged bleeding time	14/14	OMIM:601399
861	RUNX1	HP:0003006	Neuroblastoma	-	OMIM:601399
861	RUNX1	HP:0011463	Childhood onset	1/1	OMIM:601399
861	RUNX1	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:98850
861	RUNX1	HP:0000979	Purpura	1/1	OMIM:601399
861	RUNX1	HP:0000978	Bruising susceptibility	-	OMIM:601399
861	RUNX1	HP:0000989	Pruritus	HP:0040282	ORPHA:98850
861	RUNX1	HP:0000967	Petechiae	1/1	OMIM:601399
861	RUNX1	HP:0000939	Osteoporosis	HP:0040282	ORPHA:98850
861	RUNX1	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:98850
861	RUNX1	HP:0040186	Maculopapular exanthema	HP:0040283	ORPHA:98850
861	RUNX1	HP:0031408	Increased proportion of CD25+ mast cells	HP:0040282	ORPHA:98850
861	RUNX1	HP:0002829	Arthralgia	HP:0040282	ORPHA:98850
861	RUNX1	HP:0001541	Ascites	HP:0040283	ORPHA:98850
861	RUNX1	HP:0002863	Myelodysplasia	-	OMIM:601399
861	RUNX1	HP:0031364	Ecchymosis	1/1	OMIM:601399
861	RUNX1	HP:0012378	Fatigue	HP:0040282	ORPHA:98850
861	RUNX1	HP:0012378	Fatigue	HP:0040282	ORPHA:521
861	RUNX1	HP:0011121	Abnormal skin morphology	HP:0040283	ORPHA:98850
861	RUNX1	HP:0001744	Splenomegaly	HP:0040282	ORPHA:521
861	RUNX1	HP:0000421	Epistaxis	-	OMIM:601399
861	RUNX1	HP:0001824	Weight loss	HP:0040282	ORPHA:98850
861	RUNX1	HP:0001894	Thrombocytosis	HP:0040282	ORPHA:521
861	RUNX1	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040282	ORPHA:521
861	RUNX1	HP:0012529	Abnormal dense granule content	14/14	OMIM:601399
861	RUNX1	HP:0012527	Abnormal alpha granule content	-	OMIM:601399
861	RUNX1	HP:0012524	Abnormal platelet shape	0/1	OMIM:601399
861	RUNX1	HP:0001873	Thrombocytopenia	1/1	OMIM:601399
861	RUNX1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:521
861	RUNX1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:98850
861	RUNX1	HP:0001876	Pancytopenia	HP:0040283	ORPHA:98850
861	RUNX1	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:98850
865	CBFB	HP:0009882	Short distal phalanx of finger	3/3	OMIM:620099
865	CBFB	HP:0001263	Global developmental delay	3/6	OMIM:620099
865	CBFB	HP:0001216	Delayed ossification of carpal bones	3/3	OMIM:620099
865	CBFB	HP:0001357	Plagiocephaly	1/5	OMIM:620099
865	CBFB	HP:0008788	Delayed pubic bone ossification	2/6	OMIM:620099
865	CBFB	HP:0002673	Coxa valga	1/8	OMIM:620099
865	CBFB	HP:0000006	Autosomal dominant inheritance	-	OMIM:620099
865	CBFB	HP:0003577	Congenital onset	1/7	OMIM:620099
865	CBFB	HP:0200021	Down-sloping shoulders	2/7	OMIM:620099
865	CBFB	HP:0003621	Juvenile onset	2/7	OMIM:620099
865	CBFB	HP:0000680	Delayed eruption of primary teeth	2/7	OMIM:620099
865	CBFB	HP:0011304	Broad thumb	2/8	OMIM:620099
865	CBFB	HP:0011463	Childhood onset	3/7	OMIM:620099
865	CBFB	HP:0011462	Young adult onset	1/7	OMIM:620099
865	CBFB	HP:0000894	Short clavicles	1/7	OMIM:620099
865	CBFB	HP:0000938	Osteopenia	1/8	OMIM:620099
865	CBFB	HP:0000260	Wide anterior fontanel	2/5	OMIM:620099
865	CBFB	HP:0002857	Genu valgum	1/8	OMIM:620099
865	CBFB	HP:0001508	Failure to thrive	1/8	OMIM:620099
865	CBFB	HP:0011069	Supernumerary tooth	2/7	OMIM:620099
865	CBFB	HP:0006585	Congenital pseudoarthrosis of the clavicle	5/7	OMIM:620099
865	CBFB	HP:0000365	Hearing impairment	2/7	OMIM:620099
865	CBFB	HP:0000327	Hypoplasia of the maxilla	2/5	OMIM:620099
865	CBFB	HP:0000307	Pointed chin	1/5	OMIM:620099
865	CBFB	HP:0006660	Aplastic clavicle	1/7	OMIM:620099
865	CBFB	HP:0001763	Pes planus	2/8	OMIM:620099
865	CBFB	HP:0011220	Prominent forehead	1/5	OMIM:620099
866	SERPINA6	HP:0003750	Increased muscle fatiguability	-	OMIM:611489
866	SERPINA6	HP:0000007	Autosomal recessive inheritance	-	OMIM:611489
866	SERPINA6	HP:0000006	Autosomal dominant inheritance	-	OMIM:611489
866	SERPINA6	HP:0002615	Hypotension	1/1	OMIM:611489
866	SERPINA6	HP:0025406	Asthenia	1/1	OMIM:611489
866	SERPINA6	HP:0008163	Decreased circulating cortisol level	1/1	OMIM:611489
866	SERPINA6	HP:6000243	Reduced circulating cortisol-binding globulin concentration	1/1	OMIM:611489
866	SERPINA6	HP:0003581	Adult onset	1/1	OMIM:611489
866	SERPINA6	HP:0001903	Anemia	1/1	OMIM:611489
866	SERPINA6	HP:0000822	Hypertension	-	OMIM:611489
866	SERPINA6	HP:0012378	Fatigue	-	OMIM:611489
866	SERPINA6	HP:0012364	Decreased urinary potassium	1/1	OMIM:611489
866	SERPINA6	HP:0002900	Hypokalemia	1/1	OMIM:611489
867	CBL	HP:0025142	Constitutional symptom	HP:0040282	ORPHA:98850
867	CBL	HP:0001156	Brachydactyly	HP:0040283	ORPHA:648
867	CBL	HP:0010946	Dilatation of the renal pelvis	HP:0040283	ORPHA:648
867	CBL	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
867	CBL	HP:0001293	Cranial nerve compression	-	OMIM:131300
867	CBL	HP:0001252	Hypotonia	HP:0040282	ORPHA:648
867	CBL	HP:0001252	Hypotonia	-	OMIM:613563
867	CBL	HP:0001252	Hypotonia	2/7	OMIM:615777
867	CBL	HP:0001249	Intellectual disability	HP:0040283	ORPHA:648
867	CBL	HP:0001249	Intellectual disability	5/7	OMIM:615777
867	CBL	HP:0001260	Dysarthria	HP:0040281	ORPHA:648
867	CBL	HP:0001263	Global developmental delay	1/3	OMIM:613563
867	CBL	HP:0001263	Global developmental delay	-	OMIM:615777
867	CBL	HP:0100845	Anaphylactic shock	HP:0040282	ORPHA:98850
867	CBL	HP:0002553	Highly arched eyebrow	1/3	OMIM:613563
867	CBL	HP:0002515	Waddling gait	54/102	OMIM:131300
867	CBL	HP:0006094	Finger joint hypermobility	1/3	OMIM:613563
867	CBL	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:648
867	CBL	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:648
867	CBL	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:648
867	CBL	HP:0001382	Joint hypermobility	20/20	OMIM:613563
867	CBL	HP:0001382	Joint hypermobility	-	OMIM:615777
867	CBL	HP:0002694	Sclerosis of skull base	-	OMIM:131300
867	CBL	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:648
867	CBL	HP:0000028	Cryptorchidism	-	OMIM:613563
867	CBL	HP:0008897	Postnatal growth retardation	1/3	OMIM:613563
867	CBL	HP:0008897	Postnatal growth retardation	-	OMIM:615777
867	CBL	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:648
867	CBL	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:648
867	CBL	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:648
867	CBL	HP:0001328	Specific learning disability	HP:0040283	ORPHA:648
867	CBL	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
867	CBL	HP:0001324	Muscle weakness	HP:0040281	ORPHA:648
867	CBL	HP:0001324	Muscle weakness	40/96	OMIM:131300
867	CBL	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
867	CBL	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
867	CBL	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
867	CBL	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
867	CBL	HP:0000006	Autosomal dominant inheritance	-	OMIM:613563
867	CBL	HP:0000006	Autosomal dominant inheritance	-	OMIM:607785
867	CBL	HP:0002653	Bone pain	HP:0040282	ORPHA:98850
867	CBL	HP:0002650	Scoliosis	HP:0040282	ORPHA:648
867	CBL	HP:0002650	Scoliosis	12/14	OMIM:131300
867	CBL	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
867	CBL	HP:0002619	Varicose veins	-	OMIM:153400
867	CBL	HP:0002615	Hypotension	HP:0040282	ORPHA:98850
867	CBL	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
867	CBL	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
867	CBL	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:648
867	CBL	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
867	CBL	HP:0000175	Cleft palate	5/39	OMIM:153400
867	CBL	HP:0000175	Cleft palate	2/7	OMIM:615777
867	CBL	HP:0002797	Osteolysis	HP:0040283	ORPHA:98850
867	CBL	HP:0031284	Flushing	HP:0040282	ORPHA:98850
867	CBL	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:98850
867	CBL	HP:0001442	Typified by somatic mosaicism	-	OMIM:607785
867	CBL	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:98850
867	CBL	HP:0001433	Hepatosplenomegaly	2/3	OMIM:613563
867	CBL	HP:0001410	Decreased liver function	HP:0040283	ORPHA:98850
867	CBL	HP:0001409	Portal hypertension	HP:0040283	ORPHA:98850
867	CBL	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:648
867	CBL	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:98850
867	CBL	HP:0002024	Malabsorption	HP:0040282	ORPHA:98850
867	CBL	HP:0002033	Poor suck	1/3	OMIM:613563
867	CBL	HP:0002027	Abdominal pain	HP:0040282	ORPHA:98850
867	CBL	HP:0002002	Deep philtrum	2/3	OMIM:613563
867	CBL	HP:0002014	Diarrhea	HP:0040282	ORPHA:98850
867	CBL	HP:0002007	Frontal bossing	-	OMIM:613563
867	CBL	HP:0011800	Midface retrusion	HP:0040281	ORPHA:648
867	CBL	HP:0002039	Anorexia	HP:0040282	ORPHA:98850
867	CBL	HP:0003388	Easy fatigability	36/76	OMIM:131300
867	CBL	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
867	CBL	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:648
867	CBL	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:648
867	CBL	HP:0002162	Low posterior hairline	1/3	OMIM:613563
867	CBL	HP:0100494	Abnormal mast cell morphology	HP:0040281	ORPHA:98850
867	CBL	HP:0011869	Abnormal platelet function	HP:0040282	ORPHA:648
867	CBL	HP:0003593	Infantile onset	3/3	OMIM:613563
867	CBL	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:648
867	CBL	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:98850
867	CBL	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
867	CBL	HP:0002213	Fine hair	1/3	OMIM:613563
867	CBL	HP:0002208	Coarse hair	HP:0040282	ORPHA:648
867	CBL	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:648
867	CBL	HP:0009743	Distichiasis	42/42	OMIM:153400
867	CBL	HP:0003510	Severe short stature	7/7	OMIM:615777
867	CBL	HP:0001004	Lymphedema	HP:0040283	ORPHA:648
867	CBL	HP:0001004	Lymphedema	-	OMIM:153400
867	CBL	HP:0001004	Lymphedema	HP:0040283	OMIM:613563
867	CBL	HP:0001025	Urticaria	HP:0040283	ORPHA:98850
867	CBL	HP:0002315	Headache	-	OMIM:131300
867	CBL	HP:0004976	Knee dislocation	6/7	OMIM:615777
867	CBL	HP:0100658	Cellulitis	2/6	OMIM:153400
867	CBL	HP:0100625	Enlarged thorax	HP:0040281	ORPHA:648
867	CBL	HP:0009803	Short phalanx of finger	-	OMIM:615777
867	CBL	HP:0032155	Abdominal cramps	HP:0040282	ORPHA:98850
867	CBL	HP:0009763	Limb pain	63/92	OMIM:131300
867	CBL	HP:0003621	Juvenile onset	-	OMIM:131300
867	CBL	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
867	CBL	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:648
867	CBL	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
867	CBL	HP:0001971	Hypersplenism	HP:0040283	ORPHA:98850
867	CBL	HP:0000639	Nystagmus	HP:0040283	ORPHA:648
867	CBL	HP:0000635	Blue irides	HP:0040282	ORPHA:648
867	CBL	HP:6001056	Out-toeing	-	OMIM:131300
867	CBL	HP:0000651	Diplopia	-	OMIM:131300
867	CBL	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:98850
867	CBL	HP:0000613	Photophobia	10/49	OMIM:153400
867	CBL	HP:0001956	Truncal obesity	2/7	OMIM:615777
867	CBL	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:648
867	CBL	HP:0001909	Leukemia	HP:0040283	ORPHA:98850
867	CBL	HP:0001903	Anemia	HP:0040283	ORPHA:98850
867	CBL	HP:0001903	Anemia	HP:0040283	OMIM:131300
867	CBL	HP:0010049	Short metacarpal	-	OMIM:615777
867	CBL	HP:0011381	Aplasia of the semicircular canal	HP:0040283	ORPHA:648
867	CBL	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
867	CBL	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:648
867	CBL	HP:0000678	Dental crowding	-	OMIM:615777
867	CBL	HP:0000656	Ectropion	2/43	OMIM:153400
867	CBL	HP:0000670	Carious teeth	-	OMIM:131300
867	CBL	HP:0011304	Broad thumb	2/7	OMIM:615777
867	CBL	HP:0000668	Hypodontia	-	OMIM:615777
867	CBL	HP:0000664	Synophrys	-	OMIM:615777
867	CBL	HP:0004322	Short stature	HP:0040281	ORPHA:648
867	CBL	HP:0004322	Short stature	HP:0040283	OMIM:613563
867	CBL	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:648
867	CBL	HP:0004396	Poor appetite	-	OMIM:131300
867	CBL	HP:0031901	Elevated total serum tryptase	HP:0040282	ORPHA:98850
867	CBL	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
867	CBL	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
867	CBL	HP:0004377	Hematological neoplasm	HP:0040283	ORPHA:98850
867	CBL	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
867	CBL	HP:0003011	Abnormality of the musculature	-	OMIM:153400
867	CBL	HP:0003026	Short long bone	7/7	OMIM:615777
867	CBL	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
867	CBL	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:648
867	CBL	HP:0000767	Pectus excavatum	1/3	OMIM:613563
867	CBL	HP:0000767	Pectus excavatum	2/7	OMIM:615777
867	CBL	HP:0000768	Pectus carinatum	1/7	OMIM:615777
867	CBL	HP:0000768	Pectus carinatum	HP:0040281	ORPHA:648
867	CBL	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
867	CBL	HP:0000736	Short attention span	1/3	OMIM:613563
867	CBL	HP:0000750	Delayed speech and language development	1/3	OMIM:613563
867	CBL	HP:0000750	Delayed speech and language development	-	OMIM:615777
867	CBL	HP:0011461	Fetal onset	7/7	OMIM:615777
867	CBL	HP:0000774	Narrow chest	2/7	OMIM:615777
867	CBL	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:648
867	CBL	HP:0003115	Abnormal EKG	HP:0040281	ORPHA:648
867	CBL	HP:0004415	Pulmonary artery stenosis	HP:0040281	ORPHA:648
867	CBL	HP:0000926	Platyspondyly	1/7	OMIM:615777
867	CBL	HP:0003180	Flat acetabular roof	-	OMIM:615777
867	CBL	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:98850
867	CBL	HP:0004482	Relative macrocephaly	-	OMIM:615777
867	CBL	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
867	CBL	HP:0012804	Corneal ulceration	-	OMIM:153400
867	CBL	HP:0000823	Delayed puberty	-	OMIM:131300
867	CBL	HP:0000894	Short clavicles	-	OMIM:615777
867	CBL	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
867	CBL	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:648
867	CBL	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:648
867	CBL	HP:0010310	Chylothorax	1/6	OMIM:153400
867	CBL	HP:0010310	Chylothorax	HP:0040283	OMIM:613563
867	CBL	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:648
867	CBL	HP:0000989	Pruritus	HP:0040282	ORPHA:98850
867	CBL	HP:0000957	Cafe-au-lait spot	1/3	OMIM:613563
867	CBL	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
867	CBL	HP:0000939	Osteoporosis	HP:0040282	ORPHA:98850
867	CBL	HP:0000938	Osteopenia	HP:0040283	ORPHA:648
867	CBL	HP:0008070	Sparse hair	1/3	OMIM:613563
867	CBL	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:98850
867	CBL	HP:0040186	Maculopapular exanthema	HP:0040283	ORPHA:98850
867	CBL	HP:0011675	Arrhythmia	-	OMIM:153400
867	CBL	HP:0011675	Arrhythmia	HP:0040282	ORPHA:648
867	CBL	HP:0000286	Epicanthus	2/3	OMIM:613563
867	CBL	HP:0000286	Epicanthus	1/7	OMIM:615777
867	CBL	HP:0000280	Coarse facial features	2/7	OMIM:615777
867	CBL	HP:0000278	Retrognathia	1/3	OMIM:613563
867	CBL	HP:0031408	Increased proportion of CD25+ mast cells	HP:0040282	ORPHA:98850
867	CBL	HP:0002829	Arthralgia	HP:0040282	ORPHA:98850
867	CBL	HP:0002827	Hip dislocation	3/7	OMIM:615777
867	CBL	HP:0002808	Kyphosis	2/5	OMIM:153400
867	CBL	HP:0000252	Microcephaly	1/3	OMIM:613563
867	CBL	HP:0000252	Microcephaly	-	OMIM:615777
867	CBL	HP:0012209	Juvenile myelomonocytic leukemia	3/3	OMIM:613563
867	CBL	HP:0012209	Juvenile myelomonocytic leukemia	HP:0040283	ORPHA:648
867	CBL	HP:0012209	Juvenile myelomonocytic leukemia	-	OMIM:607785
867	CBL	HP:0000218	High palate	HP:0040281	ORPHA:648
867	CBL	HP:0001561	Polyhydramnios	HP:0040283	OMIM:613563
867	CBL	HP:0002857	Genu valgum	-	OMIM:131300
867	CBL	HP:0001541	Ascites	HP:0040283	ORPHA:98850
867	CBL	HP:0001533	Slender build	-	OMIM:131300
867	CBL	HP:0000204	Cleft upper lip	-	OMIM:153400
867	CBL	HP:0001508	Failure to thrive	2/3	OMIM:613563
867	CBL	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
867	CBL	HP:0007807	Optic nerve compression	-	OMIM:131300
867	CBL	HP:0012378	Fatigue	HP:0040282	ORPHA:98850
867	CBL	HP:0012368	Flat face	7/7	OMIM:615777
867	CBL	HP:0000396	Overfolded helix	1/3	OMIM:613563
867	CBL	HP:0000391	Thickened helices	HP:0040281	ORPHA:648
867	CBL	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
867	CBL	HP:0000365	Hearing impairment	10/67	OMIM:131300
867	CBL	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:648
867	CBL	HP:0000358	Posteriorly rotated ears	3/3	OMIM:613563
867	CBL	HP:0000369	Low-set ears	-	OMIM:613563
867	CBL	HP:0000343	Long philtrum	-	OMIM:613563
867	CBL	HP:0000343	Long philtrum	1/7	OMIM:615777
867	CBL	HP:0011001	Increased bone mineral density	-	OMIM:131300
867	CBL	HP:0000337	Broad forehead	2/3	OMIM:613563
867	CBL	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:648
867	CBL	HP:0000348	High forehead	HP:0040281	ORPHA:648
867	CBL	HP:0000347	Micrognathia	2/5	OMIM:153400
867	CBL	HP:0000347	Micrognathia	HP:0040281	ORPHA:648
867	CBL	HP:0001650	Aortic valve stenosis	-	OMIM:613563
867	CBL	HP:0001647	Bicuspid aortic valve	-	OMIM:613563
867	CBL	HP:0000316	Hypertelorism	HP:0040281	ORPHA:648
867	CBL	HP:0000316	Hypertelorism	2/3	OMIM:613563
867	CBL	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:648
867	CBL	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
867	CBL	HP:0000311	Round face	2/7	OMIM:615777
867	CBL	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:648
867	CBL	HP:0001653	Mitral regurgitation	-	OMIM:613563
867	CBL	HP:0000325	Triangular face	1/3	OMIM:613563
867	CBL	HP:0000325	Triangular face	HP:0040281	ORPHA:648
867	CBL	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
867	CBL	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:648
867	CBL	HP:0002970	Genu varum	-	OMIM:615777
867	CBL	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:648
867	CBL	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
867	CBL	HP:0002967	Cubitus valgus	-	OMIM:613563
867	CBL	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:648
867	CBL	HP:0000303	Mandibular prognathia	-	OMIM:131300
867	CBL	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:648
867	CBL	HP:0006610	Wide intermamillary distance	-	OMIM:613563
867	CBL	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:648
867	CBL	HP:0000400	Macrotia	-	OMIM:613563
867	CBL	HP:0005280	Depressed nasal bridge	-	OMIM:613563
867	CBL	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
867	CBL	HP:0000486	Strabismus	HP:0040282	ORPHA:648
867	CBL	HP:0012471	Thick vermilion border	2/3	OMIM:613563
867	CBL	HP:0000476	Cystic hygroma	HP:0040281	ORPHA:648
867	CBL	HP:0000476	Cystic hygroma	2/43	OMIM:153400
867	CBL	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
867	CBL	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:648
867	CBL	HP:0000494	Downslanted palpebral fissures	-	OMIM:613563
867	CBL	HP:0000463	Anteverted nares	1/3	OMIM:613563
867	CBL	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
867	CBL	HP:0011121	Abnormal skin morphology	HP:0040283	ORPHA:98850
867	CBL	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:648
867	CBL	HP:0000470	Short neck	1/3	OMIM:613563
867	CBL	HP:0000470	Short neck	1/7	OMIM:615777
867	CBL	HP:0000465	Webbed neck	HP:0040281	ORPHA:648
867	CBL	HP:0000465	Webbed neck	6/43	OMIM:153400
867	CBL	HP:0000465	Webbed neck	-	OMIM:613563
867	CBL	HP:0001769	Broad foot	HP:0040283	OMIM:615777
867	CBL	HP:0001763	Pes planus	1/7	OMIM:615777
867	CBL	HP:0001744	Splenomegaly	1/3	OMIM:613563
867	CBL	HP:0001743	Abnormality of the spleen	HP:0040282	ORPHA:648
867	CBL	HP:0001840	Metatarsus adductus	-	OMIM:615777
867	CBL	HP:0000520	Proptosis	2/4	OMIM:131300
867	CBL	HP:0000520	Proptosis	7/7	OMIM:615777
867	CBL	HP:0000520	Proptosis	HP:0040281	ORPHA:648
867	CBL	HP:0001824	Weight loss	HP:0040282	ORPHA:98850
867	CBL	HP:0000509	Conjunctivitis	-	OMIM:153400
867	CBL	HP:0000508	Ptosis	2/39	OMIM:153400
867	CBL	HP:0000508	Ptosis	HP:0040281	ORPHA:648
867	CBL	HP:0000508	Ptosis	1/3	OMIM:613563
867	CBL	HP:0012569	Delayed menarche	HP:0040283	ORPHA:648
867	CBL	HP:0000592	Blue sclerae	2/7	OMIM:615777
867	CBL	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:648
867	CBL	HP:0000568	Microphthalmia	1/6	OMIM:153400
867	CBL	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
867	CBL	HP:0012514	Lower limb pain	4/4	OMIM:131300
867	CBL	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:98850
867	CBL	HP:0001876	Pancytopenia	HP:0040283	ORPHA:98850
867	CBL	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:98850
868	CBLB	HP:0410297	Partial absence of specific antibody response to tetanus vaccine	1/3	OMIM:620430
868	CBLB	HP:0010975	Abnormal B cell count	0/3	OMIM:620430
868	CBLB	HP:0000007	Autosomal recessive inheritance	-	OMIM:620430
868	CBLB	HP:0002783	Recurrent lower respiratory tract infections	1/3	OMIM:620430
868	CBLB	HP:0002720	Decreased circulating IgA concentration	1/3	OMIM:620430
868	CBLB	HP:0033199	Increased circulating interleukin 10 concentration	3/3	OMIM:620430
868	CBLB	HP:0011839	Abnormal T cell count	0/3	OMIM:620430
868	CBLB	HP:0003593	Infantile onset	1/3	OMIM:620430
868	CBLB	HP:0001045	Vitiligo	1/3	OMIM:620430
868	CBLB	HP:0001025	Urticaria	1/3	OMIM:620430
868	CBLB	HP:0100651	Type I diabetes mellitus	2/3	OMIM:620430
868	CBLB	HP:0034797	Hepatic hemophagocytosis	1/3	OMIM:620430
868	CBLB	HP:0001954	Recurrent fever	1/3	OMIM:620430
868	CBLB	HP:0004315	Decreased circulating IgG concentration	1/3	OMIM:620430
868	CBLB	HP:0011463	Childhood onset	2/3	OMIM:620430
868	CBLB	HP:0030783	Increased circulating interleukin 6 concentration	3/3	OMIM:620430
868	CBLB	HP:0000821	Hypothyroidism	2/3	OMIM:620430
868	CBLB	HP:0040089	Abnormal total natural killer cell count	0/3	OMIM:620430
868	CBLB	HP:0002850	Decreased circulating total IgM	2/3	OMIM:620430
868	CBLB	HP:0000403	Recurrent otitis media	1/3	OMIM:620430
868	CBLB	HP:0012476	Decreased specific pneumococcal antibody level	2/2	OMIM:620430
868	CBLB	HP:0001890	Autoimmune hemolytic anemia	1/3	OMIM:620430
871	SERPINH1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
871	SERPINH1	HP:0001293	Cranial nerve compression	-	OMIM:131300
871	SERPINH1	HP:0001290	Generalized hypotonia	1/1	OMIM:613848
871	SERPINH1	HP:0001256	Intellectual disability, mild	-	OMIM:259770
871	SERPINH1	HP:0001252	Hypotonia	-	OMIM:259770
871	SERPINH1	HP:0001252	Hypotonia	2/7	OMIM:615777
871	SERPINH1	HP:0001249	Intellectual disability	5/7	OMIM:615777
871	SERPINH1	HP:0001263	Global developmental delay	1/1	OMIM:612394
871	SERPINH1	HP:0001263	Global developmental delay	-	OMIM:615777
871	SERPINH1	HP:0010982	Polygenic inheritance	-	OMIM:610504
871	SERPINH1	HP:0002515	Waddling gait	54/102	OMIM:131300
871	SERPINH1	HP:0003819	Death in childhood	1/1	OMIM:613848
871	SERPINH1	HP:0001382	Joint hypermobility	-	OMIM:259770
871	SERPINH1	HP:0001382	Joint hypermobility	-	OMIM:613848
871	SERPINH1	HP:0001382	Joint hypermobility	-	OMIM:615777
871	SERPINH1	HP:0000023	Inguinal hernia	1/1	OMIM:613848
871	SERPINH1	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
871	SERPINH1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
871	SERPINH1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
871	SERPINH1	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
871	SERPINH1	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
871	SERPINH1	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
871	SERPINH1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
871	SERPINH1	HP:0001324	Muscle weakness	40/96	OMIM:131300
871	SERPINH1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
871	SERPINH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
871	SERPINH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
871	SERPINH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613848
871	SERPINH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
871	SERPINH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
871	SERPINH1	HP:0002650	Scoliosis	1/5	OMIM:259770
871	SERPINH1	HP:0002650	Scoliosis	1/1	OMIM:612394
871	SERPINH1	HP:0002650	Scoliosis	-	OMIM:613848
871	SERPINH1	HP:0002650	Scoliosis	12/14	OMIM:131300
871	SERPINH1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
871	SERPINH1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
871	SERPINH1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
871	SERPINH1	HP:0008905	Rhizomelia	1/1	OMIM:613848
871	SERPINH1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
871	SERPINH1	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
871	SERPINH1	HP:0000175	Cleft palate	2/7	OMIM:615777
871	SERPINH1	HP:0002761	Generalized joint hypermobility	1/1	OMIM:613848
871	SERPINH1	HP:0002757	Recurrent fractures	4/5	OMIM:259770
871	SERPINH1	HP:0002756	Pathologic fracture	-	OMIM:259770
871	SERPINH1	HP:0002756	Pathologic fracture	1/1	OMIM:612394
871	SERPINH1	HP:0002753	Thin bony cortex	1/1	OMIM:613848
871	SERPINH1	HP:0002751	Kyphoscoliosis	-	OMIM:259770
871	SERPINH1	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
871	SERPINH1	HP:0002021	Pyloric stenosis	1/1	OMIM:613848
871	SERPINH1	HP:0011800	Midface retrusion	-	OMIM:613848
871	SERPINH1	HP:0002098	Respiratory distress	1/1	OMIM:613848
871	SERPINH1	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
871	SERPINH1	HP:0003388	Easy fatigability	36/76	OMIM:131300
871	SERPINH1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
871	SERPINH1	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
871	SERPINH1	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
871	SERPINH1	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
871	SERPINH1	HP:0002164	Nail dysplasia	1/1	OMIM:612394
871	SERPINH1	HP:0010557	Overlapping fingers	1/2	OMIM:612394
871	SERPINH1	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
871	SERPINH1	HP:0010502	Fibular bowing	1/1	OMIM:613848
871	SERPINH1	HP:0003593	Infantile onset	1/5	OMIM:259770
871	SERPINH1	HP:0003577	Congenital onset	4/5	OMIM:259770
871	SERPINH1	HP:0002208	Coarse hair	1/1	OMIM:612394
871	SERPINH1	HP:0003510	Severe short stature	7/7	OMIM:615777
871	SERPINH1	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
871	SERPINH1	HP:0025019	Arterial rupture	1/1	OMIM:612394
871	SERPINH1	HP:0002315	Headache	-	OMIM:131300
871	SERPINH1	HP:0004976	Knee dislocation	6/7	OMIM:615777
871	SERPINH1	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
871	SERPINH1	HP:0009803	Short phalanx of finger	-	OMIM:615777
871	SERPINH1	HP:0001089	Iris atrophy	-	OMIM:259770
871	SERPINH1	HP:0009763	Limb pain	63/92	OMIM:131300
871	SERPINH1	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
871	SERPINH1	HP:0003621	Juvenile onset	-	OMIM:131300
871	SERPINH1	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
871	SERPINH1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
871	SERPINH1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
871	SERPINH1	HP:6001056	Out-toeing	-	OMIM:131300
871	SERPINH1	HP:0000651	Diplopia	-	OMIM:131300
871	SERPINH1	HP:0000618	Blindness	5/5	OMIM:259770
871	SERPINH1	HP:0001956	Truncal obesity	2/7	OMIM:615777
871	SERPINH1	HP:0001903	Anemia	HP:0040283	OMIM:131300
871	SERPINH1	HP:0010049	Short metacarpal	-	OMIM:615777
871	SERPINH1	HP:0000678	Dental crowding	-	OMIM:615777
871	SERPINH1	HP:0000670	Carious teeth	-	OMIM:131300
871	SERPINH1	HP:0011304	Broad thumb	2/7	OMIM:615777
871	SERPINH1	HP:0000668	Hypodontia	-	OMIM:615777
871	SERPINH1	HP:0000667	Phthisis bulbi	-	OMIM:259770
871	SERPINH1	HP:0000664	Synophrys	-	OMIM:615777
871	SERPINH1	HP:0004322	Short stature	-	OMIM:613848
871	SERPINH1	HP:0004322	Short stature	-	OMIM:259770
871	SERPINH1	HP:0004396	Poor appetite	-	OMIM:131300
871	SERPINH1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
871	SERPINH1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
871	SERPINH1	HP:0034197	Third trimester onset	1/1	OMIM:613848
871	SERPINH1	HP:0003016	Metaphyseal widening	-	OMIM:259770
871	SERPINH1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
871	SERPINH1	HP:0003026	Short long bone	7/7	OMIM:615777
871	SERPINH1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
871	SERPINH1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
871	SERPINH1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
871	SERPINH1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
871	SERPINH1	HP:0000750	Delayed speech and language development	-	OMIM:615777
871	SERPINH1	HP:0000703	Dentinogenesis imperfecta	1/1	OMIM:613848
871	SERPINH1	HP:0011462	Young adult onset	-	OMIM:610504
871	SERPINH1	HP:0011461	Fetal onset	7/7	OMIM:615777
871	SERPINH1	HP:0011461	Fetal onset	2/2	OMIM:612394
871	SERPINH1	HP:0000774	Narrow chest	2/7	OMIM:615777
871	SERPINH1	HP:0000774	Narrow chest	-	OMIM:613848
871	SERPINH1	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
871	SERPINH1	HP:0000787	Nephrolithiasis	1/1	OMIM:613848
871	SERPINH1	HP:0003196	Short nose	1/1	OMIM:612394
871	SERPINH1	HP:0000926	Platyspondyly	-	OMIM:259770
871	SERPINH1	HP:0000926	Platyspondyly	1/7	OMIM:615777
871	SERPINH1	HP:0000926	Platyspondyly	1/1	OMIM:612394
871	SERPINH1	HP:0000926	Platyspondyly	1/1	OMIM:613848
871	SERPINH1	HP:0003180	Flat acetabular roof	-	OMIM:615777
871	SERPINH1	HP:0004482	Relative macrocephaly	-	OMIM:615777
871	SERPINH1	HP:0004482	Relative macrocephaly	1/1	OMIM:613848
871	SERPINH1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
871	SERPINH1	HP:0000883	Thin ribs	1/1	OMIM:613848
871	SERPINH1	HP:0000885	Broad ribs	1/1	OMIM:613848
871	SERPINH1	HP:0003097	Short femur	1/1	OMIM:613848
871	SERPINH1	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
871	SERPINH1	HP:0000823	Delayed puberty	-	OMIM:131300
871	SERPINH1	HP:0000894	Short clavicles	-	OMIM:615777
871	SERPINH1	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
871	SERPINH1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
871	SERPINH1	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
871	SERPINH1	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
871	SERPINH1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
871	SERPINH1	HP:0000939	Osteoporosis	4/5	OMIM:259770
871	SERPINH1	HP:0000938	Osteopenia	1/5	OMIM:259770
871	SERPINH1	HP:0000938	Osteopenia	1/1	OMIM:612394
871	SERPINH1	HP:0000938	Osteopenia	1/1	OMIM:613848
871	SERPINH1	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
871	SERPINH1	HP:0000286	Epicanthus	1/7	OMIM:615777
871	SERPINH1	HP:0000280	Coarse facial features	2/7	OMIM:615777
871	SERPINH1	HP:0000272	Malar flattening	1/1	OMIM:612394
871	SERPINH1	HP:0000272	Malar flattening	-	OMIM:613848
871	SERPINH1	HP:0007773	Vitreoretinopathy	-	OMIM:259770
871	SERPINH1	HP:0002827	Hip dislocation	3/7	OMIM:615777
871	SERPINH1	HP:0002808	Kyphosis	1/5	OMIM:259770
871	SERPINH1	HP:0000252	Microcephaly	-	OMIM:259770
871	SERPINH1	HP:0000252	Microcephaly	-	OMIM:615777
871	SERPINH1	HP:0001552	Barrel-shaped chest	-	OMIM:259770
871	SERPINH1	HP:0002857	Genu valgum	-	OMIM:131300
871	SERPINH1	HP:0002857	Genu valgum	-	OMIM:613848
871	SERPINH1	HP:0001533	Slender build	-	OMIM:131300
871	SERPINH1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
871	SERPINH1	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
871	SERPINH1	HP:0007807	Optic nerve compression	-	OMIM:131300
871	SERPINH1	HP:0012368	Flat face	7/7	OMIM:615777
871	SERPINH1	HP:0012368	Flat face	1/1	OMIM:612394
871	SERPINH1	HP:0005257	Thoracic hypoplasia	1/1	OMIM:613848
871	SERPINH1	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
871	SERPINH1	HP:0007875	Congenital blindness	4/5	OMIM:259770
871	SERPINH1	HP:0006528	Chronic lung disease	-	OMIM:613848
871	SERPINH1	HP:0007862	Retinal calcification	1/5	OMIM:259770
871	SERPINH1	HP:0006532	Recurrent pneumonia	1/1	OMIM:613848
871	SERPINH1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
871	SERPINH1	HP:0002943	Thoracic scoliosis	1/1	OMIM:613848
871	SERPINH1	HP:0006487	Bowing of the long bones	1/1	OMIM:613848
871	SERPINH1	HP:0000365	Hearing impairment	10/67	OMIM:131300
871	SERPINH1	HP:0000369	Low-set ears	2/2	OMIM:612394
871	SERPINH1	HP:0000341	Narrow forehead	1/1	OMIM:613848
871	SERPINH1	HP:0000343	Long philtrum	1/7	OMIM:615777
871	SERPINH1	HP:0011001	Increased bone mineral density	-	OMIM:131300
871	SERPINH1	HP:0000348	High forehead	-	OMIM:613848
871	SERPINH1	HP:0000347	Micrognathia	1/1	OMIM:613848
871	SERPINH1	HP:0002982	Tibial bowing	1/5	OMIM:259770
871	SERPINH1	HP:0002982	Tibial bowing	1/1	OMIM:613848
871	SERPINH1	HP:0002983	Micromelia	-	OMIM:613848
871	SERPINH1	HP:0000311	Round face	2/7	OMIM:615777
871	SERPINH1	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
871	SERPINH1	HP:0000325	Triangular face	1/1	OMIM:613848
871	SERPINH1	HP:0001629	Ventricular septal defect	-	OMIM:259770
871	SERPINH1	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
871	SERPINH1	HP:0002953	Vertebral compression fracture	-	OMIM:613848
871	SERPINH1	HP:0001620	Abnormally high-pitched voice	1/1	OMIM:613848
871	SERPINH1	HP:0002970	Genu varum	-	OMIM:615777
871	SERPINH1	HP:0000307	Pointed chin	1/2	OMIM:612394
871	SERPINH1	HP:0000303	Mandibular prognathia	-	OMIM:131300
871	SERPINH1	HP:0032988	Persistent head lag	1/1	OMIM:613848
871	SERPINH1	HP:0006640	Multiple rib fractures	1/1	OMIM:613848
871	SERPINH1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
871	SERPINH1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
871	SERPINH1	HP:0000463	Anteverted nares	1/1	OMIM:612394
871	SERPINH1	HP:0001788	Premature rupture of membranes	-	OMIM:610504
871	SERPINH1	HP:0000470	Short neck	1/7	OMIM:615777
871	SERPINH1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
871	SERPINH1	HP:0001763	Pes planus	1/7	OMIM:615777
871	SERPINH1	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
871	SERPINH1	HP:0005474	Decreased calvarial ossification	1/1	OMIM:613848
871	SERPINH1	HP:0000518	Cataract	1/5	OMIM:259770
871	SERPINH1	HP:0000518	Cataract	1/1	OMIM:612394
871	SERPINH1	HP:0001840	Metatarsus adductus	-	OMIM:615777
871	SERPINH1	HP:0000520	Proptosis	2/4	OMIM:131300
871	SERPINH1	HP:0000520	Proptosis	7/7	OMIM:615777
871	SERPINH1	HP:0000592	Blue sclerae	2/7	OMIM:615777
871	SERPINH1	HP:0000592	Blue sclerae	1/1	OMIM:613848
871	SERPINH1	HP:0000586	Shallow orbits	1/1	OMIM:612394
871	SERPINH1	HP:0000586	Shallow orbits	1/1	OMIM:613848
871	SERPINH1	HP:0011220	Prominent forehead	1/1	OMIM:613848
871	SERPINH1	HP:0000568	Microphthalmia	1/5	OMIM:259770
871	SERPINH1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
871	SERPINH1	HP:0012514	Lower limb pain	4/4	OMIM:131300
871	SERPINH1	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
871	SERPINH1	HP:0000545	Myopia	1/1	OMIM:612394
875	CBS	HP:0009901	Crumpled ear	90/119	OMIM:121050
875	CBS	HP:0001181	Adducted thumb	42/90	OMIM:121050
875	CBS	HP:0001166	Arachnodactyly	HP:0040281	ORPHA:394
875	CBS	HP:0001166	Arachnodactyly	104/124	OMIM:121050
875	CBS	HP:0001166	Arachnodactyly	124/197	OMIM:154700
875	CBS	HP:0001166	Arachnodactyly	34/37	OMIM:182212
875	CBS	HP:0001166	Arachnodactyly	6/15	OMIM:208050
875	CBS	HP:0001166	Arachnodactyly	3/4	OMIM:236200
875	CBS	HP:0001132	Lens subluxation	HP:0040283	ORPHA:394
875	CBS	HP:0001132	Lens subluxation	13/19	OMIM:236200
875	CBS	HP:0003745	Sporadic	-	OMIM:182212
875	CBS	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
875	CBS	HP:0033505	Livedo reticularis	HP:0040283	ORPHA:394
875	CBS	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
875	CBS	HP:0001297	Stroke	-	OMIM:236200
875	CBS	HP:0001290	Generalized hypotonia	-	OMIM:208050
875	CBS	HP:0001290	Generalized hypotonia	-	OMIM:182212
875	CBS	HP:0001270	Motor delay	-	OMIM:121050
875	CBS	HP:0001250	Seizure	HP:0040283	ORPHA:394
875	CBS	HP:0001250	Seizure	-	OMIM:236200
875	CBS	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
875	CBS	HP:0001252	Hypotonia	26/37	OMIM:182212
875	CBS	HP:0001251	Ataxia	3/3	OMIM:236200
875	CBS	HP:0001249	Intellectual disability	HP:0040281	ORPHA:394
875	CBS	HP:0001249	Intellectual disability	14/14	OMIM:236200
875	CBS	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
875	CBS	HP:0001249	Intellectual disability	-	OMIM:182212
875	CBS	HP:0001260	Dysarthria	3/3	OMIM:236200
875	CBS	HP:0001263	Global developmental delay	-	OMIM:236200
875	CBS	HP:0001263	Global developmental delay	-	OMIM:182212
875	CBS	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
875	CBS	HP:0008770	Obsessive-compulsive trait	HP:0040283	ORPHA:394
875	CBS	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
875	CBS	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:394
875	CBS	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
875	CBS	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
875	CBS	HP:0032352	Methioninuria	-	OMIM:236200
875	CBS	HP:0012075	Personality disorder	-	OMIM:236200
875	CBS	HP:0000098	Tall stature	-	OMIM:154700
875	CBS	HP:0000098	Tall stature	-	OMIM:236200
875	CBS	HP:0001397	Hepatic steatosis	-	OMIM:236200
875	CBS	HP:0001377	Limited elbow extension	94/109	OMIM:121050
875	CBS	HP:0001377	Limited elbow extension	29/199	OMIM:154700
875	CBS	HP:0001376	Limitation of joint mobility	-	OMIM:236200
875	CBS	HP:0001371	Flexion contracture	-	OMIM:208050
875	CBS	HP:0001371	Flexion contracture	-	OMIM:154700
875	CBS	HP:0001387	Joint stiffness	HP:0040282	ORPHA:394
875	CBS	HP:0001382	Joint hypermobility	1/1	OMIM:130050
875	CBS	HP:0001382	Joint hypermobility	12/14	OMIM:208050
875	CBS	HP:0001382	Joint hypermobility	11/53	OMIM:154700
875	CBS	HP:0001382	Joint hypermobility	31/47	OMIM:182212
875	CBS	HP:0000023	Inguinal hernia	11/11	OMIM:130050
875	CBS	HP:0000023	Inguinal hernia	-	OMIM:236200
875	CBS	HP:0000023	Inguinal hernia	8/15	OMIM:208050
875	CBS	HP:0000023	Inguinal hernia	19/34	OMIM:182212
875	CBS	HP:0001363	Craniosynostosis	18/37	OMIM:182212
875	CBS	HP:0000028	Cryptorchidism	1/1	OMIM:130050
875	CBS	HP:0000028	Cryptorchidism	1/13	OMIM:182212
875	CBS	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
875	CBS	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
875	CBS	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
875	CBS	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
875	CBS	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
875	CBS	HP:0001332	Dystonia	HP:0040283	ORPHA:394
875	CBS	HP:0025300	Malar rash	HP:0040283	ORPHA:394
875	CBS	HP:0033724	Cerebral venous sinus thrombosis	HP:0040283	ORPHA:394
875	CBS	HP:0001328	Specific learning disability	HP:0040283	ORPHA:394
875	CBS	HP:0000007	Autosomal recessive inheritance	-	OMIM:236200
875	CBS	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
875	CBS	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
875	CBS	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
875	CBS	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
875	CBS	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
875	CBS	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:394
875	CBS	HP:0002650	Scoliosis	HP:0040282	ORPHA:394
875	CBS	HP:0002650	Scoliosis	-	OMIM:236200
875	CBS	HP:0002650	Scoliosis	16/53	OMIM:154700
875	CBS	HP:0002650	Scoliosis	11/15	OMIM:121050
875	CBS	HP:0002650	Scoliosis	3/15	OMIM:208050
875	CBS	HP:0002650	Scoliosis	23/37	OMIM:182212
875	CBS	HP:0002647	Aortic dissection	1/58	OMIM:154700
875	CBS	HP:0002619	Varicose veins	-	OMIM:130050
875	CBS	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
875	CBS	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
875	CBS	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
875	CBS	HP:0001300	Parkinsonism	HP:0040283	ORPHA:394
875	CBS	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
875	CBS	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
875	CBS	HP:0000189	Narrow palate	-	OMIM:182212
875	CBS	HP:0000189	Narrow palate	-	OMIM:154700
875	CBS	HP:0000193	Bifid uvula	0/14	OMIM:208050
875	CBS	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
875	CBS	HP:0012151	Hemothorax	3/4	OMIM:130050
875	CBS	HP:0000139	Uterine prolapse	-	OMIM:130050
875	CBS	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
875	CBS	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
875	CBS	HP:0031284	Flushing	3/3	OMIM:236200
875	CBS	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
875	CBS	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:394
875	CBS	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
875	CBS	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
875	CBS	HP:0002751	Kyphoscoliosis	2/3	OMIM:236200
875	CBS	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
875	CBS	HP:0002036	Hiatus hernia	-	OMIM:208050
875	CBS	HP:0002007	Frontal bossing	-	OMIM:121050
875	CBS	HP:0002007	Frontal bossing	-	OMIM:182212
875	CBS	HP:0003302	Spondylolisthesis	-	OMIM:154700
875	CBS	HP:0002097	Emphysema	8/9	OMIM:130050
875	CBS	HP:0002097	Emphysema	HP:0040283	OMIM:154700
875	CBS	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:394
875	CBS	HP:0002040	Esophageal varix	HP:0040283	ORPHA:394
875	CBS	HP:0002039	Anorexia	HP:0040283	ORPHA:394
875	CBS	HP:0030961	Microspherophakia	2/53	OMIM:154700
875	CBS	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
875	CBS	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
875	CBS	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
875	CBS	HP:0010499	Patellar subluxation	12/22	OMIM:121050
875	CBS	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
875	CBS	HP:0002140	Ischemic stroke	-	OMIM:208050
875	CBS	HP:0002156	Homocystinuria	-	OMIM:236200
875	CBS	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
875	CBS	HP:0002107	Pneumothorax	2/2	OMIM:130050
875	CBS	HP:0002107	Pneumothorax	6/53	OMIM:154700
875	CBS	HP:0002105	Hemoptysis	6/10	OMIM:130050
875	CBS	HP:0002160	Hyperhomocystinemia	HP:0040281	ORPHA:394
875	CBS	HP:0002160	Hyperhomocystinemia	14/14	OMIM:236200
875	CBS	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:394
875	CBS	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
875	CBS	HP:0003593	Infantile onset	5/16	OMIM:208050
875	CBS	HP:0003577	Congenital onset	5/5	OMIM:121050
875	CBS	HP:0003577	Congenital onset	12/26	OMIM:208050
875	CBS	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:394
875	CBS	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:394
875	CBS	HP:0100718	Uterine rupture	-	OMIM:130050
875	CBS	HP:0004872	Incisional hernia	-	OMIM:154700
875	CBS	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:394
875	CBS	HP:0002204	Pulmonary embolism	HP:0040282	ORPHA:394
875	CBS	HP:6000357	Reduced cystathionine beta-synthase activity in cultured fibroblasts	-	OMIM:236200
875	CBS	HP:0100775	Dural ectasia	112/140	OMIM:154700
875	CBS	HP:0100790	Hernia	HP:0040283	ORPHA:394
875	CBS	HP:0100749	Chest pain	1/2	OMIM:130050
875	CBS	HP:0002299	Brittle hair	-	OMIM:236200
875	CBS	HP:0002293	Alopecia of scalp	-	OMIM:130050
875	CBS	HP:0034671	Knee contracture	7/14	OMIM:121050
875	CBS	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
875	CBS	HP:0010648	Dermal translucency	3/3	OMIM:130050
875	CBS	HP:0007099	Chiari type I malformation	-	OMIM:182212
875	CBS	HP:0025019	Arterial rupture	-	OMIM:130050
875	CBS	HP:0001065	Striae distensae	11/53	OMIM:154700
875	CBS	HP:0001030	Fragile skin	-	OMIM:130050
875	CBS	HP:0001027	Soft, doughy skin	-	OMIM:208050
875	CBS	HP:0001010	Hypopigmentation of the skin	HP:0040283	ORPHA:394
875	CBS	HP:0001010	Hypopigmentation of the skin	-	OMIM:236200
875	CBS	HP:0001025	Urticaria	HP:0040283	ORPHA:394
875	CBS	HP:0002353	EEG abnormality	HP:0040283	ORPHA:394
875	CBS	HP:0002317	Unsteady gait	3/3	OMIM:236200
875	CBS	HP:0100645	Cystocele	-	OMIM:130050
875	CBS	HP:0001073	Cigarette-paper scars	-	OMIM:130050
875	CBS	HP:0001083	Ectopia lentis	HP:0040281	ORPHA:394
875	CBS	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
875	CBS	HP:0001083	Ectopia lentis	119/251	OMIM:154700
875	CBS	HP:0001083	Ectopia lentis	18/37	OMIM:236200
875	CBS	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
875	CBS	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
875	CBS	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
875	CBS	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
875	CBS	HP:0003623	Neonatal onset	19/23	OMIM:236200
875	CBS	HP:0003623	Neonatal onset	3/16	OMIM:208050
875	CBS	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
875	CBS	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:394
875	CBS	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
875	CBS	HP:0003621	Juvenile onset	4/4	OMIM:236200
875	CBS	HP:0003621	Juvenile onset	2/16	OMIM:208050
875	CBS	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
875	CBS	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
875	CBS	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
875	CBS	HP:0001977	Abnormal thrombosis	-	OMIM:208050
875	CBS	HP:0000646	Amblyopia	HP:0040282	ORPHA:394
875	CBS	HP:0000648	Optic atrophy	HP:0040283	ORPHA:394
875	CBS	HP:0001933	Subcutaneous hemorrhage	HP:0040283	ORPHA:394
875	CBS	HP:0001907	Thromboembolism	-	OMIM:236200
875	CBS	HP:0001903	Anemia	1/1	OMIM:130050
875	CBS	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
875	CBS	HP:0000678	Dental crowding	HP:0040281	ORPHA:394
875	CBS	HP:0000678	Dental crowding	8/53	OMIM:154700
875	CBS	HP:0000678	Dental crowding	-	OMIM:236200
875	CBS	HP:0000689	Dental malocclusion	-	OMIM:182212
875	CBS	HP:0004322	Short stature	-	OMIM:130050
875	CBS	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
875	CBS	HP:0003088	Premature osteoarthritis	-	OMIM:154700
875	CBS	HP:0003083	Dislocated radial head	5/37	OMIM:182212
875	CBS	HP:0003066	Limited knee extension	38/45	OMIM:121050
875	CBS	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:394
875	CBS	HP:0003042	Elbow dislocation	1/12	OMIM:121050
875	CBS	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
875	CBS	HP:0004337	Abnormality of amino acid metabolism	HP:0040281	ORPHA:394
875	CBS	HP:0005684	Distal arthrogryposis	-	OMIM:121050
875	CBS	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
875	CBS	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:394
875	CBS	HP:0000767	Pectus excavatum	2/14	OMIM:121050
875	CBS	HP:0000767	Pectus excavatum	1/4	OMIM:130050
875	CBS	HP:0000767	Pectus excavatum	-	OMIM:236200
875	CBS	HP:0000767	Pectus excavatum	3/15	OMIM:208050
875	CBS	HP:0000767	Pectus excavatum	44/146	OMIM:154700
875	CBS	HP:0000767	Pectus excavatum	-	OMIM:182212
875	CBS	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:394
875	CBS	HP:0000768	Pectus carinatum	4/14	OMIM:121050
875	CBS	HP:0000768	Pectus carinatum	2/15	OMIM:208050
875	CBS	HP:0000768	Pectus carinatum	58/146	OMIM:154700
875	CBS	HP:0000768	Pectus carinatum	-	OMIM:182212
875	CBS	HP:0000768	Pectus carinatum	1/3	OMIM:236200
875	CBS	HP:0100026	Arteriovenous malformation	HP:0040282	ORPHA:394
875	CBS	HP:0000739	Anxiety	HP:0040283	ORPHA:394
875	CBS	HP:0000716	Depression	HP:0040283	ORPHA:394
875	CBS	HP:0000716	Depression	-	OMIM:236200
875	CBS	HP:0000729	Autistic behavior	HP:0040283	ORPHA:394
875	CBS	HP:0000709	Psychosis	HP:0040283	ORPHA:394
875	CBS	HP:0000708	Atypical behavior	HP:0040283	ORPHA:394
875	CBS	HP:0000708	Atypical behavior	-	OMIM:236200
875	CBS	HP:0000704	Periodontitis	-	OMIM:130050
875	CBS	HP:0011463	Childhood onset	4/23	OMIM:236200
875	CBS	HP:0011463	Childhood onset	1/16	OMIM:208050
875	CBS	HP:0011462	Young adult onset	3/16	OMIM:208050
875	CBS	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
875	CBS	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
875	CBS	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
875	CBS	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:394
875	CBS	HP:0004420	Arterial thrombosis	HP:0040282	ORPHA:394
875	CBS	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
875	CBS	HP:0030799	Scaphocephaly	-	OMIM:121050
875	CBS	HP:0003199	Decreased muscle mass	-	OMIM:154700
875	CBS	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
875	CBS	HP:0000883	Thin ribs	-	OMIM:182212
875	CBS	HP:0000822	Hypertension	HP:0040282	ORPHA:394
875	CBS	HP:0000822	Hypertension	-	OMIM:208050
875	CBS	HP:0000895	Lateral clavicle hook	-	OMIM:182212
875	CBS	HP:0003235	Hypermethioninemia	13/13	OMIM:236200
875	CBS	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
875	CBS	HP:0034391	Elbow contracture	10/14	OMIM:121050
875	CBS	HP:0003273	Hip contracture	32/121	OMIM:121050
875	CBS	HP:0004586	Biconcave vertebral bodies	-	OMIM:236200
875	CBS	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
875	CBS	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
875	CBS	HP:0000978	Bruising susceptibility	-	OMIM:208050
875	CBS	HP:0000977	Soft skin	7/15	OMIM:208050
875	CBS	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
875	CBS	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
875	CBS	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
875	CBS	HP:0000973	Cutis laxa	5/14	OMIM:208050
875	CBS	HP:0000965	Cutis marmorata	-	OMIM:236200
875	CBS	HP:0000963	Thin skin	4/13	OMIM:208050
875	CBS	HP:0000939	Osteoporosis	HP:0040281	ORPHA:394
875	CBS	HP:0000939	Osteoporosis	0/1	OMIM:236200
875	CBS	HP:0000938	Osteopenia	-	OMIM:121050
875	CBS	HP:0000938	Osteopenia	-	OMIM:182212
875	CBS	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
875	CBS	HP:0040160	Generalized osteoporosis	-	OMIM:236200
875	CBS	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:394
875	CBS	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
875	CBS	HP:0025586	Hypertropia	8/573	OMIM:154700
875	CBS	HP:0000278	Retrognathia	-	OMIM:154700
875	CBS	HP:0000260	Wide anterior fontanel	-	OMIM:182212
875	CBS	HP:0000275	Narrow face	-	OMIM:154700
875	CBS	HP:0000276	Long face	14/14	OMIM:208050
875	CBS	HP:0000276	Long face	-	OMIM:154700
875	CBS	HP:0000272	Malar flattening	9/14	OMIM:208050
875	CBS	HP:0000272	Malar flattening	31/53	OMIM:154700
875	CBS	HP:0000268	Dolichocephaly	-	OMIM:121050
875	CBS	HP:0000268	Dolichocephaly	36/53	OMIM:154700
875	CBS	HP:0000268	Dolichocephaly	28/37	OMIM:182212
875	CBS	HP:0005136	Mitral annular calcification	-	OMIM:154700
875	CBS	HP:0002816	Genu recurvatum	-	OMIM:182212
875	CBS	HP:0002816	Genu recurvatum	-	OMIM:154700
875	CBS	HP:0002808	Kyphosis	HP:0040282	ORPHA:394
875	CBS	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
875	CBS	HP:0000244	Brachyturricephaly	-	OMIM:182212
875	CBS	HP:0000238	Hydrocephalus	13/37	OMIM:182212
875	CBS	HP:0000252	Microcephaly	6/37	OMIM:182212
875	CBS	HP:0000248	Brachycephaly	-	OMIM:121050
875	CBS	HP:0000218	High palate	HP:0040283	ORPHA:394
875	CBS	HP:0000218	High palate	-	OMIM:236200
875	CBS	HP:0000218	High palate	34/53	OMIM:154700
875	CBS	HP:0000218	High palate	30/102	OMIM:121050
875	CBS	HP:0000218	High palate	5/13	OMIM:208050
875	CBS	HP:0000218	High palate	30/37	OMIM:182212
875	CBS	HP:0000233	Thin vermilion border	-	OMIM:130050
875	CBS	HP:0030009	Cervical insufficiency	-	OMIM:130050
875	CBS	HP:0002857	Genu valgum	HP:0040282	ORPHA:394
875	CBS	HP:0002857	Genu valgum	4/37	OMIM:182212
875	CBS	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
875	CBS	HP:0001537	Umbilical hernia	-	OMIM:208050
875	CBS	HP:0001537	Umbilical hernia	13/37	OMIM:182212
875	CBS	HP:0031364	Ecchymosis	-	OMIM:130050
875	CBS	HP:0001508	Failure to thrive	HP:0040283	OMIM:236200
875	CBS	HP:0001519	Disproportionate tall stature	HP:0040281	ORPHA:394
875	CBS	HP:0001519	Disproportionate tall stature	-	OMIM:121050
875	CBS	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
875	CBS	HP:0001519	Disproportionate tall stature	11/11	OMIM:236200
875	CBS	HP:0007800	Increased axial length of the globe	-	OMIM:154700
875	CBS	HP:0012385	Camptodactyly	86/110	OMIM:121050
875	CBS	HP:0012385	Camptodactyly	19/53	OMIM:154700
875	CBS	HP:0012385	Camptodactyly	24/37	OMIM:182212
875	CBS	HP:0000387	Absent earlobe	-	OMIM:130050
875	CBS	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
875	CBS	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
875	CBS	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
875	CBS	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
875	CBS	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:394
875	CBS	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
875	CBS	HP:0006480	Premature loss of teeth	-	OMIM:130050
875	CBS	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
875	CBS	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
875	CBS	HP:0000369	Low-set ears	32/37	OMIM:182212
875	CBS	HP:0000343	Long philtrum	-	OMIM:208050
875	CBS	HP:0002999	Patellar dislocation	2/20	OMIM:121050
875	CBS	HP:0000347	Micrognathia	-	OMIM:154700
875	CBS	HP:0000347	Micrognathia	26/94	OMIM:121050
875	CBS	HP:0000347	Micrognathia	5/14	OMIM:208050
875	CBS	HP:0000347	Micrognathia	33/37	OMIM:182212
875	CBS	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
875	CBS	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
875	CBS	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
875	CBS	HP:0000316	Hypertelorism	6/16	OMIM:208050
875	CBS	HP:0000316	Hypertelorism	28/37	OMIM:182212
875	CBS	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
875	CBS	HP:0001658	Myocardial infarction	-	OMIM:236200
875	CBS	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
875	CBS	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
875	CBS	HP:0001659	Aortic regurgitation	-	OMIM:208050
875	CBS	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
875	CBS	HP:0001653	Mitral regurgitation	-	OMIM:121050
875	CBS	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
875	CBS	HP:0001629	Ventricular septal defect	-	OMIM:121050
875	CBS	HP:0001635	Congestive heart failure	-	OMIM:154700
875	CBS	HP:0001631	Atrial septal defect	-	OMIM:121050
875	CBS	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
875	CBS	HP:0001634	Mitral valve prolapse	-	OMIM:130050
875	CBS	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
875	CBS	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
875	CBS	HP:0001634	Mitral valve prolapse	-	OMIM:236200
875	CBS	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
875	CBS	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
875	CBS	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
875	CBS	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
875	CBS	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
875	CBS	HP:0000400	Macrotia	7/15	OMIM:208050
875	CBS	HP:0001733	Pancreatitis	HP:0040283	ORPHA:394
875	CBS	HP:0001733	Pancreatitis	-	OMIM:236200
875	CBS	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
875	CBS	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
875	CBS	HP:0000483	Astigmatism	3/53	OMIM:154700
875	CBS	HP:0000483	Astigmatism	5/15	OMIM:208050
875	CBS	HP:0000486	Strabismus	HP:0040283	ORPHA:394
875	CBS	HP:0000486	Strabismus	110/573	OMIM:154700
875	CBS	HP:0000486	Strabismus	17/37	OMIM:182212
875	CBS	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
875	CBS	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
875	CBS	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
875	CBS	HP:0000490	Deeply set eye	25/63	OMIM:154700
875	CBS	HP:0000463	Anteverted nares	9/37	OMIM:182212
875	CBS	HP:0012444	Brain atrophy	3/3	OMIM:236200
875	CBS	HP:0001786	Narrow foot	33/53	OMIM:154700
875	CBS	HP:0000470	Short neck	-	OMIM:121050
875	CBS	HP:0001763	Pes planus	27/53	OMIM:154700
875	CBS	HP:0001763	Pes planus	-	OMIM:182212
875	CBS	HP:0001765	Hammertoe	-	OMIM:154700
875	CBS	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
875	CBS	HP:0000418	Narrow nasal ridge	-	OMIM:130050
875	CBS	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
875	CBS	HP:0001762	Talipes equinovarus	-	OMIM:130050
875	CBS	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
875	CBS	HP:0001761	Pes cavus	HP:0040282	ORPHA:394
875	CBS	HP:0001761	Pes cavus	49/146	OMIM:154700
875	CBS	HP:0000518	Cataract	HP:0040283	ORPHA:394
875	CBS	HP:0000518	Cataract	118/199	OMIM:154700
875	CBS	HP:0001840	Metatarsus adductus	-	OMIM:121050
875	CBS	HP:0001840	Metatarsus adductus	-	OMIM:182212
875	CBS	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
875	CBS	HP:0001842	Foot acroosteolysis	-	OMIM:130050
875	CBS	HP:0000520	Proptosis	29/37	OMIM:182212
875	CBS	HP:0000506	Telecanthus	-	OMIM:182212
875	CBS	HP:0000508	Ptosis	16/37	OMIM:182212
875	CBS	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
875	CBS	HP:0000505	Visual impairment	4/19	OMIM:236200
875	CBS	HP:0000501	Glaucoma	HP:0040283	ORPHA:394
875	CBS	HP:0000501	Glaucoma	29/625	OMIM:154700
875	CBS	HP:0000501	Glaucoma	-	OMIM:236200
875	CBS	HP:0000581	Blepharophimosis	-	OMIM:208050
875	CBS	HP:0000577	Exotropia	72/626	OMIM:154700
875	CBS	HP:0000577	Exotropia	3/3	OMIM:236200
875	CBS	HP:0000586	Shallow orbits	13/37	OMIM:182212
875	CBS	HP:0000563	Keratoconus	-	OMIM:130050
875	CBS	HP:0000563	Keratoconus	3/14	OMIM:208050
875	CBS	HP:0011220	Prominent forehead	17/37	OMIM:182212
875	CBS	HP:0000565	Esotropia	12/573	OMIM:154700
875	CBS	HP:0000541	Retinal detachment	HP:0040283	ORPHA:394
875	CBS	HP:0000541	Retinal detachment	-	OMIM:154700
875	CBS	HP:0000541	Retinal detachment	1/3	OMIM:236200
875	CBS	HP:0001883	Talipes	13/53	OMIM:154700
875	CBS	HP:0000545	Myopia	HP:0040282	ORPHA:394
875	CBS	HP:0000545	Myopia	-	OMIM:121050
875	CBS	HP:0000545	Myopia	11/22	OMIM:236200
875	CBS	HP:0000545	Myopia	6/15	OMIM:208050
875	CBS	HP:0000545	Myopia	93/251	OMIM:154700
875	CBS	HP:0000545	Myopia	9/37	OMIM:182212
881	CCIN	HP:0000007	Autosomal recessive inheritance	-	OMIM:620838
881	CCIN	HP:0033393	Irregularly shaped sperm tail	3/3	OMIM:620838
881	CCIN	HP:0034011	Reduced progressive sperm motility	2/4	OMIM:620838
881	CCIN	HP:0011462	Young adult onset	5/5	OMIM:620838
881	CCIN	HP:0000798	Oligozoospermia	1/4	OMIM:620838
881	CCIN	HP:0003251	Male infertility	5/5	OMIM:620838
881	CCIN	HP:0012207	Reduced sperm motility	1/4	OMIM:620838
881	CCIN	HP:0012205	Globozoospermia	4/4	OMIM:620838
889	KRIT1	HP:0033522	Cerebral cavernous malformation	HP:0040280	ORPHA:221061
889	KRIT1	HP:0033522	Cerebral cavernous malformation	-	OMIM:116860
889	KRIT1	HP:0001250	Seizure	HP:0040281	ORPHA:221061
889	KRIT1	HP:0001250	Seizure	-	OMIM:116860
889	KRIT1	HP:0002572	Episodic vomiting	HP:0040283	ORPHA:221061
889	KRIT1	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:221061
889	KRIT1	HP:0002514	Cerebral calcification	-	OMIM:116860
889	KRIT1	HP:0003829	Typified by incomplete penetrance	-	OMIM:116860
889	KRIT1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:221061
889	KRIT1	HP:0001342	Cerebral hemorrhage	HP:0040281	ORPHA:221061
889	KRIT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:116860
889	KRIT1	HP:0033748	Hypoesthesia	HP:0040282	ORPHA:221061
889	KRIT1	HP:0002650	Scoliosis	HP:0040282	ORPHA:221061
889	KRIT1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:221061
889	KRIT1	HP:0100561	Spinal cord lesion	HP:0040283	ORPHA:221061
889	KRIT1	HP:0002170	Intracranial hemorrhage	-	OMIM:116860
889	KRIT1	HP:0009588	Vestibular schwannoma	HP:0040284	ORPHA:221061
889	KRIT1	HP:0010512	Adrenal calcification	HP:0040284	ORPHA:221061
889	KRIT1	HP:0003401	Paresthesia	HP:0040282	ORPHA:221061
889	KRIT1	HP:0009592	Astrocytoma	HP:0040284	ORPHA:221061
889	KRIT1	HP:0001048	Cavernous hemangioma	HP:0040282	ORPHA:221061
889	KRIT1	HP:0001028	Hemangioma	HP:0040282	ORPHA:221061
889	KRIT1	HP:0002315	Headache	HP:0040281	ORPHA:221061
889	KRIT1	HP:0002315	Headache	-	OMIM:116860
889	KRIT1	HP:0003011	Abnormality of the musculature	-	OMIM:116860
889	KRIT1	HP:0012749	Focal T2 hypointense brainstem lesion	HP:0040282	ORPHA:221061
889	KRIT1	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040282	ORPHA:221061
889	KRIT1	HP:0012721	Venous malformation	HP:0040283	ORPHA:221061
889	KRIT1	HP:0011513	Retinal cavernous hemangioma	HP:0040283	ORPHA:221061
889	KRIT1	HP:0000951	Abnormality of the skin	-	OMIM:116860
889	KRIT1	HP:0007797	Retinal vascular malformation	-	OMIM:116860
889	KRIT1	HP:0002858	Meningioma	HP:0040284	ORPHA:221061
889	KRIT1	HP:0006576	Hepatic vascular malformations	-	OMIM:116860
889	KRIT1	HP:0007872	Choroidal hemangioma	HP:0040283	ORPHA:221061
889	KRIT1	HP:0030430	Neuroma	HP:0040282	ORPHA:221061
889	KRIT1	HP:0011276	Vascular skin abnormality	HP:0040283	ORPHA:221061
894	CCND2	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:83473
894	CCND2	HP:0001162	Postaxial hand polydactyly	11/12	OMIM:615938
894	CCND2	HP:0001159	Syndactyly	0/12	OMIM:615938
894	CCND2	HP:0010864	Intellectual disability, severe	10/11	OMIM:615938
894	CCND2	HP:0001250	Seizure	HP:0040282	ORPHA:83473
894	CCND2	HP:0001263	Global developmental delay	11/11	OMIM:615938
894	CCND2	HP:0001355	Megalencephaly	HP:0040281	ORPHA:83473
894	CCND2	HP:0001355	Megalencephaly	12/12	OMIM:615938
894	CCND2	HP:0001344	Absent speech	-	OMIM:615938
894	CCND2	HP:0000006	Autosomal dominant inheritance	-	OMIM:615938
894	CCND2	HP:0000160	Narrow mouth	HP:0040282	ORPHA:83473
894	CCND2	HP:0100542	Abnormal localization of kidney	HP:0040282	ORPHA:83473
894	CCND2	HP:0002119	Ventriculomegaly	10/12	OMIM:615938
894	CCND2	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:83473
894	CCND2	HP:0002126	Polymicrogyria	12/12	OMIM:615938
894	CCND2	HP:0003577	Congenital onset	-	OMIM:615938
894	CCND2	HP:0007074	Thick corpus callosum	1/12	OMIM:615938
894	CCND2	HP:0000256	Macrocephaly	HP:0040281	ORPHA:83473
894	CCND2	HP:0000256	Macrocephaly	-	OMIM:615938
894	CCND2	HP:0005105	Abnormal nasal morphology	HP:0040282	ORPHA:83473
894	CCND2	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:83473
894	CCND2	HP:0000238	Hydrocephalus	-	OMIM:615938
894	CCND2	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:83473
894	CCND2	HP:0000348	High forehead	HP:0040282	ORPHA:83473
894	CCND2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:83473
894	CCND2	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:83473
894	CCND2	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:83473
894	CCND2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:83473
894	CCND2	HP:0000506	Telecanthus	HP:0040282	ORPHA:83473
894	CCND2	HP:0011220	Prominent forehead	-	OMIM:615938
899	CCNF	HP:0002463	Language impairment	HP:0040283	ORPHA:803
899	CCNF	HP:0001260	Dysarthria	-	OMIM:619141
899	CCNF	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
899	CCNF	HP:0001257	Spasticity	HP:0040282	ORPHA:803
899	CCNF	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
899	CCNF	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
899	CCNF	HP:0007354	Amyotrophic lateral sclerosis	9/13	OMIM:619141
899	CCNF	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
899	CCNF	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
899	CCNF	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
899	CCNF	HP:0001324	Muscle weakness	-	OMIM:619141
899	CCNF	HP:0000006	Autosomal dominant inheritance	-	OMIM:619141
899	CCNF	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
899	CCNF	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
899	CCNF	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
899	CCNF	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
899	CCNF	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
899	CCNF	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
899	CCNF	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
899	CCNF	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
899	CCNF	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
899	CCNF	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
899	CCNF	HP:0002145	Frontotemporal dementia	2/13	OMIM:619141
899	CCNF	HP:0003470	Paralysis	HP:0040282	ORPHA:803
899	CCNF	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
899	CCNF	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
899	CCNF	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
899	CCNF	HP:0010546	Muscle fibrillation	-	OMIM:619141
899	CCNF	HP:0003596	Middle age onset	16/19	OMIM:619141
899	CCNF	HP:0003584	Late onset	3/9	OMIM:619141
899	CCNF	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
899	CCNF	HP:0002380	Fasciculations	-	OMIM:619141
899	CCNF	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
899	CCNF	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
899	CCNF	HP:0003690	Limb muscle weakness	-	OMIM:619141
899	CCNF	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
899	CCNF	HP:0002307	Drooling	HP:0040282	ORPHA:803
899	CCNF	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
899	CCNF	HP:0004326	Cachexia	HP:0040283	ORPHA:803
899	CCNF	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
899	CCNF	HP:0000739	Anxiety	HP:0040282	ORPHA:803
899	CCNF	HP:0000716	Depression	HP:0040282	ORPHA:803
899	CCNF	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
899	CCNF	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
899	CCNF	HP:0000708	Atypical behavior	-	OMIM:619141
899	CCNF	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
899	CCNF	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
899	CCNF	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
899	CCNF	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
899	CCNF	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
899	CCNF	HP:0012378	Fatigue	HP:0040282	ORPHA:803
899	CCNF	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
899	CCNF	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
899	CCNF	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
899	CCNF	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
899	CCNF	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
899	CCNF	HP:0001824	Weight loss	HP:0040282	ORPHA:803
899	CCNF	HP:0012531	Pain	HP:0040282	ORPHA:803
915	CD3D	HP:0008866	Failure to thrive secondary to recurrent infections	HP:0040282	ORPHA:169160
915	CD3D	HP:0000007	Autosomal recessive inheritance	-	OMIM:615617
915	CD3D	HP:0012176	Abnormal natural killer cell morphology	0/3	OMIM:615617
915	CD3D	HP:0012115	Hepatitis	HP:0040283	ORPHA:169160
915	CD3D	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:169160
915	CD3D	HP:0002719	Recurrent infections	HP:0040281	ORPHA:169160
915	CD3D	HP:0002722	Recurrent abscess formation	HP:0040283	ORPHA:169160
915	CD3D	HP:0002028	Chronic diarrhea	1/3	OMIM:615617
915	CD3D	HP:0002014	Diarrhea	HP:0040283	ORPHA:169160
915	CD3D	HP:0002090	Pneumonia	HP:0040283	ORPHA:169160
915	CD3D	HP:0002039	Anorexia	HP:0040283	ORPHA:169160
915	CD3D	HP:0003460	Decreased circulating total IgA	HP:0040282	ORPHA:169160
915	CD3D	HP:0003593	Infantile onset	2/2	OMIM:615617
915	CD3D	HP:0002205	Recurrent respiratory infections	-	OMIM:615617
915	CD3D	HP:0010702	Increased circulating immunoglobulin concentration	HP:0040283	ORPHA:169160
915	CD3D	HP:0001019	Erythroderma	HP:0040283	ORPHA:169160
915	CD3D	HP:0009098	Chronic oral candidiasis	HP:0040283	ORPHA:169160
915	CD3D	HP:0001945	Fever	HP:0040282	ORPHA:169160
915	CD3D	HP:0004315	Decreased circulating IgG concentration	HP:0040282	ORPHA:169160
915	CD3D	HP:0004385	Protracted diarrhea	HP:0040283	ORPHA:169160
915	CD3D	HP:0004430	Severe combined immunodeficiency	3/3	OMIM:615617
915	CD3D	HP:0045080	Decreased CD3+ T cell proportion	HP:0040282	ORPHA:169160
915	CD3D	HP:0001508	Failure to thrive	-	OMIM:615617
915	CD3D	HP:0031381	Decreased mitogen-induced T-cell proliferation	HP:0040282	ORPHA:169160
915	CD3D	HP:0002846	Abnormal B cell morphology	0/3	OMIM:615617
915	CD3D	HP:0000388	Otitis media	HP:0040283	ORPHA:169160
915	CD3D	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:169160
915	CD3D	HP:0005353	Recurrent herpes	HP:0040283	ORPHA:169160
915	CD3D	HP:0000403	Recurrent otitis media	-	OMIM:615617
915	CD3D	HP:0005403	Decreased total T cell count	3/3	OMIM:615617
915	CD3D	HP:0005401	Recurrent candida infections	HP:0040283	ORPHA:169160
915	CD3D	HP:0031691	Severe viral infection	2/2	OMIM:615617
915	CD3D	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:169160
915	CD3D	HP:0001880	Increased total eosinophil count	HP:0040283	ORPHA:169160
916	CD3E	HP:0410242	Abnormal circulating IgG concentration	0/2	OMIM:615615
916	CD3E	HP:0032218	Decreased proportion of CD4-positive T cells	1/1	OMIM:615615
916	CD3E	HP:0010975	Abnormal B cell count	0/2	OMIM:615615
916	CD3E	HP:0008866	Failure to thrive secondary to recurrent infections	HP:0040282	ORPHA:169160
916	CD3E	HP:0000007	Autosomal recessive inheritance	-	OMIM:615615
916	CD3E	HP:0031123	Recurrent gastroenteritis	-	OMIM:615615
916	CD3E	HP:0012115	Hepatitis	HP:0040283	ORPHA:169160
916	CD3E	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:169160
916	CD3E	HP:0002719	Recurrent infections	HP:0040281	ORPHA:169160
916	CD3E	HP:0002722	Recurrent abscess formation	HP:0040283	ORPHA:169160
916	CD3E	HP:0002721	Immunodeficiency	3/3	OMIM:615615
916	CD3E	HP:0002014	Diarrhea	HP:0040283	ORPHA:169160
916	CD3E	HP:0002090	Pneumonia	HP:0040283	ORPHA:169160
916	CD3E	HP:0002039	Anorexia	HP:0040283	ORPHA:169160
916	CD3E	HP:0003460	Decreased circulating total IgA	2/2	OMIM:615615
916	CD3E	HP:0003460	Decreased circulating total IgA	HP:0040282	ORPHA:169160
916	CD3E	HP:0003593	Infantile onset	2/2	OMIM:615615
916	CD3E	HP:0002205	Recurrent respiratory infections	-	OMIM:615615
916	CD3E	HP:0010702	Increased circulating immunoglobulin concentration	HP:0040283	ORPHA:169160
916	CD3E	HP:0001019	Erythroderma	HP:0040283	ORPHA:169160
916	CD3E	HP:0009098	Chronic oral candidiasis	HP:0040283	ORPHA:169160
916	CD3E	HP:0001945	Fever	HP:0040282	ORPHA:169160
916	CD3E	HP:0004315	Decreased circulating IgG concentration	HP:0040282	ORPHA:169160
916	CD3E	HP:0004385	Protracted diarrhea	HP:0040283	ORPHA:169160
916	CD3E	HP:0011463	Childhood onset	1/1	OMIM:615615
916	CD3E	HP:0040088	Abnormal lymphocyte count	1/1	OMIM:615615
916	CD3E	HP:0040218	Reduced total natural killer cell count	0/2	OMIM:615615
916	CD3E	HP:0045080	Decreased CD3+ T cell proportion	1/1	OMIM:615615
916	CD3E	HP:0045080	Decreased CD3+ T cell proportion	HP:0040282	ORPHA:169160
916	CD3E	HP:0002850	Decreased circulating total IgM	1/2	OMIM:615615
916	CD3E	HP:0031379	Abnormal T cell proliferation	3/3	OMIM:615615
916	CD3E	HP:0031381	Decreased mitogen-induced T-cell proliferation	HP:0040282	ORPHA:169160
916	CD3E	HP:0000388	Otitis media	HP:0040283	ORPHA:169160
916	CD3E	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:169160
916	CD3E	HP:0006532	Recurrent pneumonia	1/1	OMIM:615615
916	CD3E	HP:0005353	Recurrent herpes	HP:0040283	ORPHA:169160
916	CD3E	HP:0000403	Recurrent otitis media	1/1	OMIM:615615
916	CD3E	HP:0005401	Recurrent candida infections	HP:0040283	ORPHA:169160
916	CD3E	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:169160
916	CD3E	HP:0001888	Decreased total lymphocyte count	2/2	OMIM:615615
916	CD3E	HP:0001880	Increased total eosinophil count	HP:0040283	ORPHA:169160
917	CD3G	HP:0003819	Death in childhood	1/2	OMIM:615607
917	CD3G	HP:0000007	Autosomal recessive inheritance	-	OMIM:615607
917	CD3G	HP:0031123	Recurrent gastroenteritis	-	OMIM:615607
917	CD3G	HP:0002721	Immunodeficiency	-	OMIM:615607
917	CD3G	HP:0002028	Chronic diarrhea	2/2	OMIM:615607
917	CD3G	HP:0003593	Infantile onset	3/3	OMIM:615607
917	CD3G	HP:0002242	Abnormal intestine morphology	HP:0040283	OMIM:615607
917	CD3G	HP:0002205	Recurrent respiratory infections	2/2	OMIM:615607
917	CD3G	HP:0009098	Chronic oral candidiasis	2/2	OMIM:615607
917	CD3G	HP:0000964	Eczematoid dermatitis	-	OMIM:615607
917	CD3G	HP:0001522	Death in infancy	1/2	OMIM:615607
917	CD3G	HP:0001508	Failure to thrive	1/2	OMIM:615607
917	CD3G	HP:0002846	Abnormal B cell morphology	0/2	OMIM:615607
917	CD3G	HP:0005218	Anoperineal fistula	2/2	OMIM:615607
917	CD3G	HP:0000403	Recurrent otitis media	2/2	OMIM:615607
917	CD3G	HP:0005415	Decreased CD8+ T cell proportion	-	OMIM:615607
917	CD3G	HP:0005403	Decreased total T cell count	2/2	OMIM:615607
917	CD3G	HP:0001890	Autoimmune hemolytic anemia	1/2	OMIM:615607
917	CD3G	HP:0041063	Chronic decreased circulating IgG2	2/2	OMIM:615607
919	CD247	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:85408
919	CD247	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	1/1	OMIM:610163
919	CD247	HP:0001371	Flexion contracture	HP:0040283	ORPHA:85408
919	CD247	HP:0001370	Rheumatoid arthritis	HP:0040283	ORPHA:85410
919	CD247	HP:0001369	Arthritis	HP:0040281	ORPHA:85410
919	CD247	HP:0001369	Arthritis	HP:0040282	ORPHA:85408
919	CD247	HP:0001386	Joint swelling	HP:0040282	ORPHA:85408
919	CD247	HP:0001387	Joint stiffness	HP:0040282	ORPHA:85408
919	CD247	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:85410
919	CD247	HP:0001384	Abnormal hip joint morphology	HP:0040283	ORPHA:85408
919	CD247	HP:0008866	Failure to thrive secondary to recurrent infections	HP:0040282	ORPHA:169160
919	CD247	HP:0008850	Severe postnatal growth retardation	HP:0040283	ORPHA:85410
919	CD247	HP:0008843	Hip osteoarthritis	HP:0040283	ORPHA:85408
919	CD247	HP:0000007	Autosomal recessive inheritance	-	OMIM:610163
919	CD247	HP:0012115	Hepatitis	HP:0040283	ORPHA:169160
919	CD247	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:85410
919	CD247	HP:0001433	Hepatosplenomegaly	HP:0040284	ORPHA:85408
919	CD247	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:169160
919	CD247	HP:0002719	Recurrent infections	HP:0040281	ORPHA:169160
919	CD247	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:85408
919	CD247	HP:0002722	Recurrent abscess formation	HP:0040283	ORPHA:169160
919	CD247	HP:0002721	Immunodeficiency	-	OMIM:610163
919	CD247	HP:0040313	Oligoarthritis	HP:0040283	ORPHA:85408
919	CD247	HP:0040313	Oligoarthritis	HP:0040281	ORPHA:85410
919	CD247	HP:0003326	Myalgia	HP:0040283	ORPHA:85408
919	CD247	HP:0002014	Diarrhea	HP:0040283	ORPHA:169160
919	CD247	HP:0003319	Abnormality of the cervical spine	HP:0040283	ORPHA:85408
919	CD247	HP:0002090	Pneumonia	HP:0040283	ORPHA:169160
919	CD247	HP:0002039	Anorexia	HP:0040283	ORPHA:169160
919	CD247	HP:0003460	Decreased circulating total IgA	HP:0040282	ORPHA:169160
919	CD247	HP:0011911	Abnormal metacarpophalangeal joint morphology	HP:0040283	ORPHA:85408
919	CD247	HP:0003496	Increased circulating IgM level	1/1	OMIM:610163
919	CD247	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:85410
919	CD247	HP:0003493	Antinuclear antibody positivity	HP:0040283	ORPHA:85408
919	CD247	HP:0003593	Infantile onset	-	OMIM:610163
919	CD247	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:85410
919	CD247	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:85408
919	CD247	HP:0100769	Synovitis	HP:0040282	ORPHA:85408
919	CD247	HP:0010702	Increased circulating immunoglobulin concentration	HP:0040283	ORPHA:169160
919	CD247	HP:0008348	Decreased circulating IgG2 concentration	2/2	OMIM:610163
919	CD247	HP:0001019	Erythroderma	HP:0040283	ORPHA:169160
919	CD247	HP:0001019	Erythroderma	1/1	OMIM:610163
919	CD247	HP:0001094	Iridocyclitis	HP:0040284	ORPHA:85408
919	CD247	HP:0100686	Enthesitis	HP:0040282	ORPHA:85408
919	CD247	HP:0010754	Abnormality of the temporomandibular joint	HP:0040283	ORPHA:85408
919	CD247	HP:0009098	Chronic oral candidiasis	HP:0040283	ORPHA:169160
919	CD247	HP:0001945	Fever	HP:0040282	ORPHA:169160
919	CD247	HP:0001903	Anemia	HP:0040283	ORPHA:85408
919	CD247	HP:0004315	Decreased circulating IgG concentration	HP:0040282	ORPHA:169160
919	CD247	HP:0004385	Protracted diarrhea	HP:0040283	ORPHA:169160
919	CD247	HP:0004385	Protracted diarrhea	1/1	OMIM:610163
919	CD247	HP:0003028	Abnormality of the ankle	HP:0040282	ORPHA:85410
919	CD247	HP:0003043	Abnormal shoulder morphology	HP:0040283	ORPHA:85408
919	CD247	HP:0003019	Abnormality of the wrist	HP:0040282	ORPHA:85408
919	CD247	HP:0003237	Increased circulating IgG concentration	1/1	OMIM:610163
919	CD247	HP:0003212	Increased circulating IgE concentration	1/1	OMIM:610163
919	CD247	HP:0045080	Decreased CD3+ T cell proportion	HP:0040282	ORPHA:169160
919	CD247	HP:0003262	Anti-smooth muscle antibody positivity	1/2	OMIM:610163
919	CD247	HP:0003261	Increased circulating IgA concentration	1/1	OMIM:610163
919	CD247	HP:0002829	Arthralgia	HP:0040282	ORPHA:85408
919	CD247	HP:0005086	Knee osteoarthritis	HP:0040282	ORPHA:85408
919	CD247	HP:0005086	Knee osteoarthritis	HP:0040282	ORPHA:85410
919	CD247	HP:0001530	Mild postnatal growth retardation	HP:0040283	ORPHA:85408
919	CD247	HP:0001508	Failure to thrive	HP:0040282	ORPHA:85410
919	CD247	HP:0031381	Decreased mitogen-induced T-cell proliferation	HP:0040282	ORPHA:169160
919	CD247	HP:0007833	Anterior chamber synechiae	HP:0040283	ORPHA:85410
919	CD247	HP:0000388	Otitis media	HP:0040283	ORPHA:169160
919	CD247	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:169160
919	CD247	HP:0006532	Recurrent pneumonia	1/1	OMIM:610163
919	CD247	HP:0005186	Synovial lining hyperplasia	HP:0040282	ORPHA:85408
919	CD247	HP:0002960	Autoimmunity	HP:0040282	ORPHA:85410
919	CD247	HP:0030167	Antimitochondrial antibody positivity	1/2	OMIM:610163
919	CD247	HP:0005353	Recurrent herpes	HP:0040283	ORPHA:169160
919	CD247	HP:0005353	Recurrent herpes	1/1	OMIM:610163
919	CD247	HP:0011134	Low-grade fever	HP:0040283	ORPHA:85408
919	CD247	HP:0011117	Abnormal circulating interleukin concentration	HP:0040282	ORPHA:85410
919	CD247	HP:0001785	Ankle swelling	HP:0040282	ORPHA:85408
919	CD247	HP:0005403	Decreased total T cell count	1/1	OMIM:610163
919	CD247	HP:0005401	Recurrent candida infections	HP:0040283	ORPHA:169160
919	CD247	HP:0005401	Recurrent candida infections	1/1	OMIM:610163
919	CD247	HP:0000518	Cataract	HP:0040284	ORPHA:85410
919	CD247	HP:0001824	Weight loss	HP:0040283	ORPHA:85408
919	CD247	HP:0001832	Abnormal metatarsal morphology	HP:0040283	ORPHA:85408
919	CD247	HP:0000501	Glaucoma	HP:0040284	ORPHA:85410
919	CD247	HP:0000585	Band keratopathy	HP:0040283	ORPHA:85410
919	CD247	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040282	ORPHA:85410
919	CD247	HP:0001890	Autoimmune hemolytic anemia	1/2	OMIM:610163
919	CD247	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:169160
919	CD247	HP:0000554	Uveitis	HP:0040282	ORPHA:85410
919	CD247	HP:0000554	Uveitis	HP:0040283	ORPHA:85408
919	CD247	HP:0000572	Visual loss	HP:0040283	ORPHA:85410
919	CD247	HP:0001880	Increased total eosinophil count	HP:0040283	ORPHA:169160
919	CD247	HP:0001880	Increased total eosinophil count	1/1	OMIM:610163
920	CD4	HP:0032215	Disseminated cutaneous warts	1/1	OMIM:619238
920	CD4	HP:0032218	Decreased proportion of CD4-positive T cells	1/1	OMIM:619238
920	CD4	HP:0000007	Autosomal recessive inheritance	-	OMIM:619238
920	CD4	HP:0002788	Recurrent upper respiratory tract infections	1/1	OMIM:619238
920	CD4	HP:0003621	Juvenile onset	1/1	OMIM:619238
920	CD4	HP:0033004	Palmar warts	1/1	OMIM:619238
920	CD4	HP:0033005	Plantar warts	1/1	OMIM:619238
920	CD4	HP:0002843	Abnormal T cell morphology	-	OMIM:613949
920	CD4	HP:0000403	Recurrent otitis media	1/1	OMIM:619238
925	CD8A	HP:0000007	Autosomal recessive inheritance	-	OMIM:608957
925	CD8A	HP:0002718	Recurrent bacterial infections	-	OMIM:608957
925	CD8A	HP:0002110	Bronchiectasis	-	OMIM:608957
925	CD8A	HP:0003577	Congenital onset	-	OMIM:608957
925	CD8A	HP:0002205	Recurrent respiratory infections	-	OMIM:608957
925	CD8A	HP:0004429	Recurrent viral infections	-	OMIM:608957
925	CD8A	HP:0005422	Absence of CD8-positive T cells	-	OMIM:608957
930	CD19	HP:0001287	Meningitis	-	OMIM:240500
930	CD19	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	4/4	OMIM:240500
930	CD19	HP:0010975	Abnormal B cell count	0/4	OMIM:613493
930	CD19	HP:0002664	Neoplasm	-	OMIM:240500
930	CD19	HP:0000007	Autosomal recessive inheritance	-	OMIM:613493
930	CD19	HP:0000007	Autosomal recessive inheritance	-	OMIM:240500
930	CD19	HP:0002665	Lymphoma	-	OMIM:240500
930	CD19	HP:0000006	Autosomal dominant inheritance	-	OMIM:240500
930	CD19	HP:0002718	Recurrent bacterial infections	-	OMIM:240500
930	CD19	HP:0002718	Recurrent bacterial infections	-	OMIM:613493
930	CD19	HP:0002716	Lymphadenopathy	-	OMIM:240500
930	CD19	HP:0002729	Follicular hyperplasia	-	OMIM:240500
930	CD19	HP:0002720	Decreased circulating IgA concentration	5/5	OMIM:240500
930	CD19	HP:0002720	Decreased circulating IgA concentration	3/4	OMIM:613493
930	CD19	HP:0002014	Diarrhea	-	OMIM:240500
930	CD19	HP:0002110	Bronchiectasis	-	OMIM:240500
930	CD19	HP:0011840	Abnormality of T cell physiology	-	OMIM:240500
930	CD19	HP:0011839	Abnormal T cell count	0/5	OMIM:240500
930	CD19	HP:0011839	Abnormal T cell count	0/4	OMIM:613493
930	CD19	HP:0003593	Infantile onset	1/4	OMIM:613493
930	CD19	HP:0002240	Hepatomegaly	-	OMIM:240500
930	CD19	HP:0002205	Recurrent respiratory infections	-	OMIM:613493
930	CD19	HP:0032134	Chronic decreased circulating total IgG	4/4	OMIM:613493
930	CD19	HP:0032139	Reduced isohemagglutinin level	4/4	OMIM:613493
930	CD19	HP:0003621	Juvenile onset	2/4	OMIM:613493
930	CD19	HP:0004315	Decreased circulating IgG concentration	4/5	OMIM:240500
930	CD19	HP:0011463	Childhood onset	1/4	OMIM:613493
930	CD19	HP:0002837	Recurrent bronchitis	5/5	OMIM:240500
930	CD19	HP:0002850	Decreased circulating total IgM	3/4	OMIM:613493
930	CD19	HP:0002850	Decreased circulating total IgM	0/5	OMIM:240500
930	CD19	HP:0006532	Recurrent pneumonia	-	OMIM:240500
930	CD19	HP:0002960	Autoimmunity	-	OMIM:240500
930	CD19	HP:0005387	Combined immunodeficiency	5/5	OMIM:240500
930	CD19	HP:0005387	Combined immunodeficiency	4/4	OMIM:613493
930	CD19	HP:0000403	Recurrent otitis media	5/5	OMIM:240500
930	CD19	HP:0000403	Recurrent otitis media	4/4	OMIM:613493
930	CD19	HP:0011108	Recurrent sinusitis	-	OMIM:613493
930	CD19	HP:0011108	Recurrent sinusitis	5/5	OMIM:240500
930	CD19	HP:0001744	Splenomegaly	-	OMIM:240500
930	CD19	HP:0000509	Conjunctivitis	-	OMIM:240500
930	CD19	HP:0000509	Conjunctivitis	1/4	OMIM:613493
930	CD19	HP:0030388	Decreased class-switched memory B cell proportion	4/4	OMIM:613493
931	MS4A1	HP:0010975	Abnormal B cell count	0/1	OMIM:613495
931	MS4A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613495
931	MS4A1	HP:0002718	Recurrent bacterial infections	-	OMIM:613495
931	MS4A1	HP:0003493	Antinuclear antibody positivity	1/1	OMIM:613495
931	MS4A1	HP:0011839	Abnormal T cell count	0/1	OMIM:613495
931	MS4A1	HP:0002205	Recurrent respiratory infections	1/1	OMIM:613495
931	MS4A1	HP:0032134	Chronic decreased circulating total IgG	1/1	OMIM:613495
931	MS4A1	HP:0011463	Childhood onset	1/1	OMIM:613495
931	MS4A1	HP:0005387	Combined immunodeficiency	1/1	OMIM:613495
939	CD27	HP:0033509	EBV encephalitis	1/7	OMIM:615122
939	CD27	HP:0033508	EBV meningitis	1/17	OMIM:615122
939	CD27	HP:0100806	Sepsis	1/17	OMIM:615122
939	CD27	HP:0000007	Autosomal recessive inheritance	-	OMIM:615122
939	CD27	HP:0002665	Lymphoma	2/8	OMIM:615122
939	CD27	HP:0012189	Hodgkin lymphoma	3/17	OMIM:615122
939	CD27	HP:0012156	Hemophagocytosis	5/25	OMIM:615122
939	CD27	HP:0000155	Oral ulcer	4/17	OMIM:615122
939	CD27	HP:0001433	Hepatosplenomegaly	5/17	OMIM:615122
939	CD27	HP:0002719	Recurrent infections	-	OMIM:615122
939	CD27	HP:0002716	Lymphadenopathy	10/19	OMIM:615122
939	CD27	HP:0002240	Hepatomegaly	2/2	OMIM:615122
939	CD27	HP:0020072	Persistent EBV viremia	15/29	OMIM:615122
939	CD27	HP:0032170	Severe varicella zoster infection	1/17	OMIM:615122
939	CD27	HP:0005523	Lymphoproliferative disorder	9/25	OMIM:615122
939	CD27	HP:0001945	Fever	6/19	OMIM:615122
939	CD27	HP:0001915	Aplastic anemia	2/19	OMIM:615122
939	CD27	HP:0004313	Decreased circulating immunoglobulin concentration	6/19	OMIM:615122
939	CD27	HP:0001541	Ascites	HP:0040283	OMIM:615122
939	CD27	HP:0031381	Decreased mitogen-induced T-cell proliferation	-	OMIM:615122
939	CD27	HP:0006532	Recurrent pneumonia	3/17	OMIM:615122
939	CD27	HP:0001744	Splenomegaly	2/2	OMIM:615122
939	CD27	HP:0000554	Uveitis	4/17	OMIM:615122
939	CD27	HP:0001876	Pancytopenia	1/17	OMIM:615122
940	CD28	HP:0025144	Shivering	HP:0040283	ORPHA:3162
940	CD28	HP:0025143	Chills	HP:0040283	ORPHA:3162
940	CD28	HP:0032247	Persistent CMV viremia	2/2	OMIM:620901
940	CD28	HP:0033510	Cutaneous horn	1/3	OMIM:620901
940	CD28	HP:0032215	Disseminated cutaneous warts	1/3	OMIM:620901
940	CD28	HP:0007400	Irregular hyperpigmentation	HP:0040283	ORPHA:3162
940	CD28	HP:0007400	Irregular hyperpigmentation	HP:0040282	ORPHA:2584
940	CD28	HP:0032301	Genital warts	0/3	OMIM:620901
940	CD28	HP:0007488	Diffuse skin atrophy	HP:0040283	ORPHA:2584
940	CD28	HP:0000007	Autosomal recessive inheritance	-	OMIM:620901
940	CD28	HP:0002665	Lymphoma	HP:0040281	ORPHA:3162
940	CD28	HP:0002665	Lymphoma	HP:0040281	ORPHA:2584
940	CD28	HP:0001337	Tremor	HP:0040283	ORPHA:3162
940	CD28	HP:0012192	Cutaneous T-cell lymphoma	HP:0040281	ORPHA:3162
940	CD28	HP:0012192	Cutaneous T-cell lymphoma	HP:0040282	ORPHA:2584
940	CD28	HP:0025475	Erythematous macule	HP:0040282	ORPHA:2584
940	CD28	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:2584
940	CD28	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:3162
940	CD28	HP:0002721	Immunodeficiency	HP:0040282	ORPHA:3162
940	CD28	HP:0550004	Verruca plana	0/3	OMIM:620901
940	CD28	HP:0002045	Hypothermia	HP:0040283	ORPHA:3162
940	CD28	HP:0002103	Abnormal pleura morphology	HP:0040283	ORPHA:3162
940	CD28	HP:0033221	Increased CD4:CD8 ratio	HP:0040282	ORPHA:3162
940	CD28	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:3162
940	CD28	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:2584
940	CD28	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:3162
940	CD28	HP:0010701	Abnormal circulating immunoglobulin concentration	HP:0040283	ORPHA:3162
940	CD28	HP:0100725	Lichenification	HP:0040281	ORPHA:3162
940	CD28	HP:0100758	Gangrene	HP:0040283	ORPHA:3162
940	CD28	HP:0020072	Persistent EBV viremia	3/3	OMIM:620901
940	CD28	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:2584
940	CD28	HP:0001029	Poikiloderma	HP:0040282	ORPHA:2584
940	CD28	HP:0001019	Erythroderma	HP:0040281	ORPHA:3162
940	CD28	HP:0001019	Erythroderma	HP:0040283	ORPHA:2584
940	CD28	HP:0200035	Skin plaque	HP:0040281	ORPHA:2584
940	CD28	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:3162
940	CD28	HP:0200043	Verrucae	2/2	OMIM:620901
940	CD28	HP:0200042	Skin ulcer	HP:0040283	ORPHA:2584
940	CD28	HP:0010783	Erythema	HP:0040281	ORPHA:2584
940	CD28	HP:0032163	Molluscum contagiosum	0/3	OMIM:620901
940	CD28	HP:0003621	Juvenile onset	3/3	OMIM:620901
940	CD28	HP:0005561	Abnormal bone marrow cell morphology	HP:0040283	ORPHA:2584
940	CD28	HP:0001945	Fever	HP:0040284	ORPHA:2584
940	CD28	HP:0000656	Ectropion	HP:0040283	ORPHA:3162
940	CD28	HP:0004332	Abnormal lymphocyte morphology	HP:0040281	ORPHA:3162
940	CD28	HP:0004332	Abnormal lymphocyte morphology	HP:0040281	ORPHA:2584
940	CD28	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:3162
940	CD28	HP:0000989	Pruritus	HP:0040281	ORPHA:3162
940	CD28	HP:0000989	Pruritus	HP:0040281	ORPHA:2584
940	CD28	HP:0000988	Skin rash	HP:0040281	ORPHA:2584
940	CD28	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:3162
940	CD28	HP:0000958	Dry skin	HP:0040281	ORPHA:2584
940	CD28	HP:0000958	Dry skin	HP:0040281	ORPHA:3162
940	CD28	HP:0000969	Edema	HP:0040283	ORPHA:3162
940	CD28	HP:0000969	Edema	HP:0040283	ORPHA:2584
940	CD28	HP:0000964	Eczematoid dermatitis	HP:0040281	ORPHA:2584
940	CD28	HP:0000962	Hyperkeratosis	HP:0040283	ORPHA:2584
940	CD28	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:3162
940	CD28	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:2584
940	CD28	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:2584
940	CD28	HP:0001596	Alopecia	HP:0040282	ORPHA:2584
940	CD28	HP:0001596	Alopecia	HP:0040282	ORPHA:3162
940	CD28	HP:0002843	Abnormal T cell morphology	HP:0040281	ORPHA:3162
940	CD28	HP:0030166	Night sweats	HP:0040284	ORPHA:2584
940	CD28	HP:0000403	Recurrent otitis media	1/3	OMIM:620901
940	CD28	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:2584
940	CD28	HP:0001744	Splenomegaly	HP:0040282	ORPHA:3162
940	CD28	HP:0001744	Splenomegaly	HP:0040283	ORPHA:2584
940	CD28	HP:0001824	Weight loss	HP:0040284	ORPHA:2584
948	CD36	HP:0000007	Autosomal recessive inheritance	-	OMIM:608404
948	CD36	HP:0001902	Giant platelets	-	OMIM:608404
948	CD36	HP:0003010	Prolonged bleeding time	-	OMIM:608404
948	CD36	HP:0001892	Abnormal bleeding	-	OMIM:608404
948	CD36	HP:0001873	Thrombocytopenia	-	OMIM:608404
950	SCARB2	HP:0010885	Avascular necrosis	HP:0040281	ORPHA:77259
950	SCARB2	HP:0001272	Cerebellar atrophy	-	OMIM:254900
950	SCARB2	HP:0100820	Glomerulopathy	-	OMIM:254900
950	SCARB2	HP:0001268	Mental deterioration	0/2	OMIM:254900
950	SCARB2	HP:0001251	Ataxia	HP:0040282	ORPHA:308
950	SCARB2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:308
950	SCARB2	HP:0001260	Dysarthria	-	OMIM:254900
950	SCARB2	HP:0001260	Dysarthria	HP:0040282	ORPHA:308
950	SCARB2	HP:0000083	Renal insufficiency	2/2	OMIM:254900
950	SCARB2	HP:0000097	Focal segmental glomerulosclerosis	-	OMIM:254900
950	SCARB2	HP:0000093	Proteinuria	2/2	OMIM:254900
950	SCARB2	HP:0001399	Hepatic failure	HP:0040284	ORPHA:77259
950	SCARB2	HP:0001394	Cirrhosis	HP:0040284	ORPHA:77259
950	SCARB2	HP:0012050	Anasarca	1/2	OMIM:254900
950	SCARB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:254900
950	SCARB2	HP:0001336	Myoclonus	2/2	OMIM:254900
950	SCARB2	HP:0001336	Myoclonus	HP:0040281	ORPHA:308
950	SCARB2	HP:0002653	Bone pain	HP:0040281	ORPHA:77259
950	SCARB2	HP:0001300	Parkinsonism	HP:0040284	ORPHA:77259
950	SCARB2	HP:0002797	Osteolysis	HP:0040281	ORPHA:77259
950	SCARB2	HP:0000100	Nephrotic syndrome	2/2	OMIM:254900
950	SCARB2	HP:0002758	Osteoarthritis	HP:0040283	ORPHA:77259
950	SCARB2	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:77259
950	SCARB2	HP:0000112	Nephropathy	-	OMIM:254900
950	SCARB2	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:77259
950	SCARB2	HP:0001409	Portal hypertension	HP:0040283	ORPHA:77259
950	SCARB2	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:77259
950	SCARB2	HP:0002027	Abdominal pain	HP:0040282	ORPHA:77259
950	SCARB2	HP:0002015	Dysphagia	1/2	OMIM:254900
950	SCARB2	HP:0002080	Intention tremor	HP:0040282	ORPHA:308
950	SCARB2	HP:0002080	Intention tremor	-	OMIM:254900
950	SCARB2	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:77259
950	SCARB2	HP:0002066	Gait ataxia	-	OMIM:254900
950	SCARB2	HP:0002070	Limb ataxia	HP:0040281	ORPHA:308
950	SCARB2	HP:0002039	Anorexia	HP:0040281	ORPHA:77259
950	SCARB2	HP:0002197	Generalized-onset seizure	-	OMIM:254900
950	SCARB2	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:77259
950	SCARB2	HP:0002174	Postural tremor	-	OMIM:254900
950	SCARB2	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:77259
950	SCARB2	HP:0002202	Pleural effusion	1/2	OMIM:254900
950	SCARB2	HP:0010702	Increased circulating immunoglobulin concentration	HP:0040283	ORPHA:77259
950	SCARB2	HP:0007000	Morning myoclonic jerks	HP:0040281	ORPHA:308
950	SCARB2	HP:0002392	EEG with polyspike wave complexes	HP:0040281	ORPHA:308
950	SCARB2	HP:0002345	Action tremor	-	OMIM:254900
950	SCARB2	HP:0003678	Rapidly progressive	-	OMIM:254900
950	SCARB2	HP:0002317	Unsteady gait	1/2	OMIM:254900
950	SCARB2	HP:0004975	Erlenmeyer flask deformity of the femurs	HP:0040283	ORPHA:77259
950	SCARB2	HP:0003656	Decreased beta-glucocerebrosidase level	HP:0040281	ORPHA:77259
950	SCARB2	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:77259
950	SCARB2	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:77259
950	SCARB2	HP:0003621	Juvenile onset	1/2	OMIM:254900
950	SCARB2	HP:0031830	Pinguecula	HP:0040282	ORPHA:77259
950	SCARB2	HP:0001971	Hypersplenism	HP:0040281	ORPHA:77259
950	SCARB2	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:77259
950	SCARB2	HP:0001903	Anemia	HP:0040282	ORPHA:77259
950	SCARB2	HP:0004322	Short stature	HP:0040283	ORPHA:77259
950	SCARB2	HP:0003073	Hypoalbuminemia	2/2	OMIM:254900
950	SCARB2	HP:0000716	Depression	HP:0040283	ORPHA:77259
950	SCARB2	HP:0000726	Dementia	HP:0040283	ORPHA:308
950	SCARB2	HP:0000790	Hematuria	HP:0040283	ORPHA:77259
950	SCARB2	HP:0000823	Delayed puberty	HP:0040281	ORPHA:77259
950	SCARB2	HP:0003233	Decreased HDL cholesterol concentration	HP:0040283	ORPHA:77259
950	SCARB2	HP:0003281	Increased circulating ferritin concentration	HP:0040282	ORPHA:77259
950	SCARB2	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:77259
950	SCARB2	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:308
950	SCARB2	HP:0034336	Splenic infarction	HP:0040283	ORPHA:77259
950	SCARB2	HP:0000969	Edema	2/2	OMIM:254900
950	SCARB2	HP:0000939	Osteoporosis	HP:0040281	ORPHA:77259
950	SCARB2	HP:0000938	Osteopenia	HP:0040281	ORPHA:77259
950	SCARB2	HP:0032640	Elevated circulating CCL18 level	HP:0040283	ORPHA:77259
950	SCARB2	HP:0012223	Splenic rupture	HP:0040284	ORPHA:77259
950	SCARB2	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:77259
950	SCARB2	HP:0001541	Ascites	HP:0040283	ORPHA:77259
950	SCARB2	HP:0001510	Growth delay	HP:0040281	ORPHA:77259
950	SCARB2	HP:0005230	Biliary tract obstruction	HP:0040283	ORPHA:77259
950	SCARB2	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040283	ORPHA:77259
950	SCARB2	HP:0002953	Vertebral compression fracture	HP:0040283	ORPHA:77259
950	SCARB2	HP:0001744	Splenomegaly	HP:0040281	ORPHA:77259
950	SCARB2	HP:0025708	Early young adult onset	1/2	OMIM:254900
950	SCARB2	HP:0006775	Multiple myeloma	HP:0040283	ORPHA:77259
950	SCARB2	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:77259
950	SCARB2	HP:0001895	Normochromic anemia	2/2	OMIM:254900
950	SCARB2	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:77259
950	SCARB2	HP:0001873	Thrombocytopenia	1/2	OMIM:254900
950	SCARB2	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:77259
950	SCARB2	HP:0001876	Pancytopenia	HP:0040282	ORPHA:77259
953	ENTPD1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:401810
953	ENTPD1	HP:0001288	Gait disturbance	-	OMIM:615683
953	ENTPD1	HP:0001284	Areflexia	HP:0040283	ORPHA:401810
953	ENTPD1	HP:0001249	Intellectual disability	-	OMIM:615683
953	ENTPD1	HP:0001260	Dysarthria	HP:0040282	ORPHA:401810
953	ENTPD1	HP:0001260	Dysarthria	-	OMIM:615683
953	ENTPD1	HP:0001258	Spastic paraplegia	4/4	OMIM:615683
953	ENTPD1	HP:0001257	Spasticity	HP:0040282	ORPHA:401810
953	ENTPD1	HP:0001257	Spasticity	4/4	OMIM:615683
953	ENTPD1	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:401810
953	ENTPD1	HP:0002500	Abnormal cerebral white matter morphology	2/2	OMIM:615683
953	ENTPD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615683
953	ENTPD1	HP:0002342	Intellectual disability, moderate	-	OMIM:615683
953	ENTPD1	HP:0006889	Intellectual disability, borderline	HP:0040282	ORPHA:401810
953	ENTPD1	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:401810
953	ENTPD1	HP:0000718	Aggressive behavior	-	OMIM:615683
953	ENTPD1	HP:0000823	Delayed puberty	HP:0040282	ORPHA:401810
953	ENTPD1	HP:0000823	Delayed puberty	-	OMIM:615683
953	ENTPD1	HP:0003202	Skeletal muscle atrophy	-	OMIM:615683
953	ENTPD1	HP:0000252	Microcephaly	2/4	OMIM:615683
953	ENTPD1	HP:0000252	Microcephaly	HP:0040282	ORPHA:401810
953	ENTPD1	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:615683
953	ENTPD1	HP:0000519	Developmental cataract	HP:0040283	OMIM:615683
958	CD40	HP:0000007	Autosomal recessive inheritance	-	OMIM:606843
958	CD40	HP:0002718	Recurrent bacterial infections	-	OMIM:606843
958	CD40	HP:0002720	Decreased circulating IgA concentration	-	OMIM:606843
958	CD40	HP:0002721	Immunodeficiency	-	OMIM:606843
958	CD40	HP:0003496	Increased circulating IgM level	-	OMIM:606843
958	CD40	HP:0004315	Decreased circulating IgG concentration	-	OMIM:606843
958	CD40	HP:0002849	Absence of lymph node germinal center	-	OMIM:606843
958	CD40	HP:0002847	Impaired memory B cell generation	-	OMIM:606843
958	CD40	HP:0002959	Impaired Ig class switch recombination	-	OMIM:606843
958	CD40	HP:0005479	Decreased circulating IgE concentration	-	OMIM:606843
958	CD40	HP:0001875	Decreased total neutrophil count	-	OMIM:606843
959	CD40LG	HP:0410243	Abnormal circulating IgM concentration	0/5	OMIM:308230
959	CD40LG	HP:0100806	Sepsis	8/56	OMIM:308230
959	CD40LG	HP:0001287	Meningitis	5/56	OMIM:308230
959	CD40LG	HP:0001263	Global developmental delay	3/4	OMIM:308230
959	CD40LG	HP:0001394	Cirrhosis	6/56	OMIM:308230
959	CD40LG	HP:0001347	Hyperreflexia	1/5	OMIM:308230
959	CD40LG	HP:0000155	Oral ulcer	25/56	OMIM:308230
959	CD40LG	HP:0012115	Hepatitis	9/56	OMIM:308230
959	CD40LG	HP:0002783	Recurrent lower respiratory tract infections	20/56	OMIM:308230
959	CD40LG	HP:0001419	X-linked recessive inheritance	-	OMIM:308230
959	CD40LG	HP:0002718	Recurrent bacterial infections	-	OMIM:308230
959	CD40LG	HP:0002720	Decreased circulating IgA concentration	-	OMIM:308230
959	CD40LG	HP:0002721	Immunodeficiency	-	OMIM:308230
959	CD40LG	HP:0030991	Sclerosing cholangitis	11/56	OMIM:308230
959	CD40LG	HP:0002014	Diarrhea	31/56	OMIM:308230
959	CD40LG	HP:0003496	Increased circulating IgM level	-	OMIM:308230
959	CD40LG	HP:0003593	Infantile onset	5/5	OMIM:308230
959	CD40LG	HP:0002240	Hepatomegaly	-	OMIM:308230
959	CD40LG	HP:0200123	Chronic hepatitis	-	OMIM:308230
959	CD40LG	HP:0002376	Developmental regression	1/5	OMIM:308230
959	CD40LG	HP:0020102	Pneumocystis jirovecii pneumonia	4/5	OMIM:308230
959	CD40LG	HP:0009098	Chronic oral candidiasis	1/5	OMIM:308230
959	CD40LG	HP:0004315	Decreased circulating IgG concentration	5/5	OMIM:308230
959	CD40LG	HP:0011448	Ankle clonus	1/5	OMIM:308230
959	CD40LG	HP:0034285	Enteroviral encephalitis	6/10	OMIM:308230
959	CD40LG	HP:0010280	Stomatitis	-	OMIM:308230
959	CD40LG	HP:0030812	Enlarged tonsils	-	OMIM:308230
959	CD40LG	HP:0003261	Increased circulating IgA concentration	1/5	OMIM:308230
959	CD40LG	HP:0000230	Gingivitis	-	OMIM:308230
959	CD40LG	HP:0001508	Failure to thrive	18/56	OMIM:308230
959	CD40LG	HP:0002849	Absence of lymph node germinal center	-	OMIM:308230
959	CD40LG	HP:0002847	Impaired memory B cell generation	-	OMIM:308230
959	CD40LG	HP:0002961	Dysgammaglobulinemia	-	OMIM:308230
959	CD40LG	HP:0002959	Impaired Ig class switch recombination	-	OMIM:308230
959	CD40LG	HP:0012418	Hypoxemia	1/5	OMIM:308230
959	CD40LG	HP:0001744	Splenomegaly	-	OMIM:308230
959	CD40LG	HP:0005419	Decreased T cell activation	-	OMIM:308230
959	CD40LG	HP:0005479	Decreased circulating IgE concentration	-	OMIM:308230
959	CD40LG	HP:0001878	Hemolytic anemia	-	OMIM:308230
959	CD40LG	HP:0001873	Thrombocytopenia	-	OMIM:308230
959	CD40LG	HP:0001875	Decreased total neutrophil count	39/61	OMIM:308230
966	CD59	HP:0001290	Generalized hypotonia	-	OMIM:612300
966	CD59	HP:0001271	Polyneuropathy	-	OMIM:612300
966	CD59	HP:0001284	Areflexia	-	OMIM:612300
966	CD59	HP:0001252	Hypotonia	-	OMIM:612300
966	CD59	HP:0000007	Autosomal recessive inheritance	-	OMIM:612300
966	CD59	HP:0003470	Paralysis	-	OMIM:612300
966	CD59	HP:0003593	Infantile onset	-	OMIM:612300
966	CD59	HP:0004818	Paroxysmal nocturnal hemoglobinuria	-	OMIM:612300
966	CD59	HP:0003690	Limb muscle weakness	-	OMIM:612300
966	CD59	HP:0003202	Skeletal muscle atrophy	-	OMIM:612300
966	CD59	HP:0002922	Increased CSF protein concentration	-	OMIM:612300
966	CD59	HP:0001878	Hemolytic anemia	-	OMIM:612300
970	CD70	HP:0410297	Partial absence of specific antibody response to tetanus vaccine	2/3	OMIM:618261
970	CD70	HP:0000007	Autosomal recessive inheritance	-	OMIM:618261
970	CD70	HP:0012189	Hodgkin lymphoma	4/5	OMIM:618261
970	CD70	HP:0001433	Hepatosplenomegaly	1/1	OMIM:618261
970	CD70	HP:0002719	Recurrent infections	2/4	OMIM:618261
970	CD70	HP:0002716	Lymphadenopathy	11/11	OMIM:618261
970	CD70	HP:0032170	Severe varicella zoster infection	1/4	OMIM:618261
970	CD70	HP:0005523	Lymphoproliferative disorder	-	OMIM:618261
970	CD70	HP:0001954	Recurrent fever	1/1	OMIM:618261
970	CD70	HP:0004313	Decreased circulating immunoglobulin concentration	3/4	OMIM:618261
970	CD70	HP:0040218	Reduced total natural killer cell count	1/1	OMIM:618261
973	CD79A	HP:0100806	Sepsis	HP:0040283	ORPHA:33110
973	CD79A	HP:0001287	Meningitis	HP:0040283	ORPHA:33110
973	CD79A	HP:0410293	Absent isohemagglutinin level	1/1	OMIM:613501
973	CD79A	HP:0001369	Arthritis	HP:0040282	ORPHA:33110
973	CD79A	HP:0000007	Autosomal recessive inheritance	-	OMIM:613501
973	CD79A	HP:0012115	Hepatitis	HP:0040283	ORPHA:33110
973	CD79A	HP:0002783	Recurrent lower respiratory tract infections	1/1	OMIM:613501
973	CD79A	HP:0002754	Osteomyelitis	HP:0040282	ORPHA:33110
973	CD79A	HP:0002719	Recurrent infections	HP:0040281	ORPHA:33110
973	CD79A	HP:0002718	Recurrent bacterial infections	1/1	OMIM:613501
973	CD79A	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:33110
973	CD79A	HP:0002024	Malabsorption	HP:0040283	ORPHA:33110
973	CD79A	HP:0002014	Diarrhea	1/1	OMIM:613501
973	CD79A	HP:0002014	Diarrhea	HP:0040281	ORPHA:33110
973	CD79A	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:33110
973	CD79A	HP:0003593	Infantile onset	1/1	OMIM:613501
973	CD79A	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:33110
973	CD79A	HP:0100658	Cellulitis	HP:0040283	ORPHA:33110
973	CD79A	HP:0200043	Verrucae	HP:0040283	ORPHA:33110
973	CD79A	HP:0003623	Neonatal onset	1/1	OMIM:613501
973	CD79A	HP:0001944	Dehydration	HP:0040283	ORPHA:33110
973	CD79A	HP:0001945	Fever	HP:0040281	ORPHA:33110
973	CD79A	HP:0012735	Cough	HP:0040281	ORPHA:33110
973	CD79A	HP:0004432	Agammaglobulinemia	1/1	OMIM:613501
973	CD79A	HP:0004432	Agammaglobulinemia	HP:0040281	ORPHA:33110
973	CD79A	HP:0000988	Skin rash	HP:0040281	ORPHA:33110
973	CD79A	HP:0000286	Epicanthus	HP:0040283	ORPHA:33110
973	CD79A	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:33110
973	CD79A	HP:0000246	Sinusitis	HP:0040281	ORPHA:33110
973	CD79A	HP:0000218	High palate	HP:0040283	ORPHA:33110
973	CD79A	HP:0001508	Failure to thrive	HP:0040282	ORPHA:33110
973	CD79A	HP:0001508	Failure to thrive	1/1	OMIM:613501
973	CD79A	HP:0002837	Recurrent bronchitis	1/1	OMIM:613501
973	CD79A	HP:0002843	Abnormal T cell morphology	0/1	OMIM:613501
973	CD79A	HP:0012378	Fatigue	HP:0040281	ORPHA:33110
973	CD79A	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:33110
973	CD79A	HP:0000389	Chronic otitis media	HP:0040281	ORPHA:33110
973	CD79A	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33110
973	CD79A	HP:0000403	Recurrent otitis media	1/1	OMIM:613501
973	CD79A	HP:0030252	Absent circulating B cells	1/1	OMIM:613501
973	CD79A	HP:0000509	Conjunctivitis	HP:0040281	ORPHA:33110
973	CD79A	HP:0001875	Decreased total neutrophil count	1/1	OMIM:613501
973	CD79A	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33110
974	CD79B	HP:0100806	Sepsis	HP:0040283	ORPHA:33110
974	CD79B	HP:0001287	Meningitis	HP:0040283	ORPHA:33110
974	CD79B	HP:0010976	Decreased total B cell count	2/2	OMIM:612692
974	CD79B	HP:0001369	Arthritis	HP:0040282	ORPHA:33110
974	CD79B	HP:0000007	Autosomal recessive inheritance	-	OMIM:612692
974	CD79B	HP:0012115	Hepatitis	HP:0040283	ORPHA:33110
974	CD79B	HP:0002754	Osteomyelitis	HP:0040282	ORPHA:33110
974	CD79B	HP:0002719	Recurrent infections	HP:0040281	ORPHA:33110
974	CD79B	HP:0002718	Recurrent bacterial infections	1/1	OMIM:612692
974	CD79B	HP:0002720	Decreased circulating IgA concentration	2/2	OMIM:612692
974	CD79B	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:33110
974	CD79B	HP:0002024	Malabsorption	HP:0040283	ORPHA:33110
974	CD79B	HP:0002014	Diarrhea	1/1	OMIM:612692
974	CD79B	HP:0002014	Diarrhea	HP:0040281	ORPHA:33110
974	CD79B	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:33110
974	CD79B	HP:0003593	Infantile onset	2/2	OMIM:612692
974	CD79B	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:33110
974	CD79B	HP:0100658	Cellulitis	HP:0040283	ORPHA:33110
974	CD79B	HP:0200043	Verrucae	HP:0040283	ORPHA:33110
974	CD79B	HP:0001944	Dehydration	HP:0040283	ORPHA:33110
974	CD79B	HP:0001945	Fever	HP:0040281	ORPHA:33110
974	CD79B	HP:0004315	Decreased circulating IgG concentration	2/2	OMIM:612692
974	CD79B	HP:0012735	Cough	HP:0040281	ORPHA:33110
974	CD79B	HP:0004432	Agammaglobulinemia	-	OMIM:612692
974	CD79B	HP:0004432	Agammaglobulinemia	HP:0040281	ORPHA:33110
974	CD79B	HP:0000988	Skin rash	HP:0040281	ORPHA:33110
974	CD79B	HP:0000286	Epicanthus	HP:0040283	ORPHA:33110
974	CD79B	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:33110
974	CD79B	HP:0000246	Sinusitis	HP:0040281	ORPHA:33110
974	CD79B	HP:0000218	High palate	HP:0040283	ORPHA:33110
974	CD79B	HP:0001508	Failure to thrive	HP:0040282	ORPHA:33110
974	CD79B	HP:0002837	Recurrent bronchitis	2/2	OMIM:612692
974	CD79B	HP:0002850	Decreased circulating total IgM	2/2	OMIM:612692
974	CD79B	HP:0002843	Abnormal T cell morphology	0/1	OMIM:612692
974	CD79B	HP:0012378	Fatigue	HP:0040281	ORPHA:33110
974	CD79B	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:33110
974	CD79B	HP:0000389	Chronic otitis media	HP:0040281	ORPHA:33110
974	CD79B	HP:0006532	Recurrent pneumonia	1/1	OMIM:612692
974	CD79B	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33110
974	CD79B	HP:0000403	Recurrent otitis media	1/1	OMIM:612692
974	CD79B	HP:0011109	Chronic sinusitis	1/1	OMIM:612692
974	CD79B	HP:0000509	Conjunctivitis	1/1	OMIM:612692
974	CD79B	HP:0000509	Conjunctivitis	HP:0040281	ORPHA:33110
974	CD79B	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33110
975	CD81	HP:0003774	Stage 5 chronic kidney disease	1/1	OMIM:613496
975	CD81	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	1/1	OMIM:613496
975	CD81	HP:0010975	Abnormal B cell count	0/1	OMIM:613496
975	CD81	HP:0000099	Glomerulonephritis	1/1	OMIM:613496
975	CD81	HP:0000007	Autosomal recessive inheritance	-	OMIM:613496
975	CD81	HP:0000126	Hydronephrosis	1/1	OMIM:613496
975	CD81	HP:0000105	Enlarged kidney	1/1	OMIM:613496
975	CD81	HP:0002718	Recurrent bacterial infections	1/1	OMIM:613496
975	CD81	HP:0033295	Mesangial Immune complex deposition	1/1	OMIM:613496
975	CD81	HP:0011839	Abnormal T cell count	0/1	OMIM:613496
975	CD81	HP:0002240	Hepatomegaly	1/1	OMIM:613496
975	CD81	HP:0002205	Recurrent respiratory infections	1/1	OMIM:613496
975	CD81	HP:0032134	Chronic decreased circulating total IgG	1/1	OMIM:613496
975	CD81	HP:0001973	Autoimmune thrombocytopenia	1/1	OMIM:613496
975	CD81	HP:0000979	Purpura	1/1	OMIM:613496
975	CD81	HP:0002829	Arthralgia	1/1	OMIM:613496
975	CD81	HP:0012476	Decreased specific pneumococcal antibody level	1/1	OMIM:613496
975	CD81	HP:0012587	Macroscopic hematuria	1/1	OMIM:613496
975	CD81	HP:0012593	Nephrotic range proteinuria	1/1	OMIM:613496
977	CD151	HP:0003774	Stage 5 chronic kidney disease	3/3	OMIM:609057
977	CD151	HP:0000007	Autosomal recessive inheritance	-	OMIM:609057
977	CD151	HP:0007678	Lacrimal duct stenosis	-	OMIM:609057
977	CD151	HP:0000123	Nephritis	-	OMIM:609057
977	CD151	HP:0004722	Thickened glomerular basement membrane	1/1	OMIM:609057
977	CD151	HP:0008404	Nail dystrophy	-	OMIM:609057
977	CD151	HP:0033485	Glomerular basement membrane disruption	1/1	OMIM:609057
977	CD151	HP:0012221	Pretibial blistering	3/3	OMIM:609057
977	CD151	HP:0000407	Sensorineural hearing impairment	3/3	OMIM:609057
987	LRBA	HP:0410252	Persistently decreased total neutrophil count	1/1	OMIM:614700
987	LRBA	HP:0100806	Sepsis	1/1	OMIM:614700
987	LRBA	HP:0002582	Atrophic gastritis	1/5	OMIM:614700
987	LRBA	HP:0002583	Colitis	1/5	OMIM:614700
987	LRBA	HP:0010976	Decreased total B cell count	5/9	OMIM:614700
987	LRBA	HP:0001369	Arthritis	2/14	OMIM:614700
987	LRBA	HP:0000007	Autosomal recessive inheritance	-	OMIM:614700
987	LRBA	HP:0002665	Lymphoma	1/9	OMIM:614700
987	LRBA	HP:0008940	Generalized lymphadenopathy	1/1	OMIM:614700
987	LRBA	HP:0002719	Recurrent infections	1/1	OMIM:614700
987	LRBA	HP:0002716	Lymphadenopathy	1/5	OMIM:614700
987	LRBA	HP:0002720	Decreased circulating IgA concentration	7/9	OMIM:614700
987	LRBA	HP:0002721	Immunodeficiency	-	OMIM:614700
987	LRBA	HP:0002037	Inflammation of the large intestine	-	OMIM:614700
987	LRBA	HP:0002028	Chronic diarrhea	7/11	OMIM:614700
987	LRBA	HP:0002099	Asthma	1/5	OMIM:614700
987	LRBA	HP:0002090	Pneumonia	5/5	OMIM:614700
987	LRBA	HP:0002110	Bronchiectasis	3/5	OMIM:614700
987	LRBA	HP:0002205	Recurrent respiratory infections	5/5	OMIM:614700
987	LRBA	HP:0100759	Clubbing of fingers	1/5	OMIM:614700
987	LRBA	HP:0001045	Vitiligo	1/9	OMIM:614700
987	LRBA	HP:0100651	Type I diabetes mellitus	3/9	OMIM:614700
987	LRBA	HP:0100646	Thyroiditis	1/9	OMIM:614700
987	LRBA	HP:0032140	Decreased specific antibody response to vaccination	6/8	OMIM:614700
987	LRBA	HP:0005523	Lymphoproliferative disorder	1/5	OMIM:614700
987	LRBA	HP:0001973	Autoimmune thrombocytopenia	10/19	OMIM:614700
987	LRBA	HP:0004315	Decreased circulating IgG concentration	10/14	OMIM:614700
987	LRBA	HP:0011473	Villous atrophy	4/6	OMIM:614700
987	LRBA	HP:0000821	Hypothyroidism	1/5	OMIM:614700
987	LRBA	HP:0012219	Erythema nodosum	1/1	OMIM:614700
987	LRBA	HP:0025526	Psoriasiform lesion	2/9	OMIM:614700
987	LRBA	HP:0001508	Failure to thrive	1/5	OMIM:614700
987	LRBA	HP:0002850	Decreased circulating total IgM	4/5	OMIM:614700
987	LRBA	HP:0001510	Growth delay	2/6	OMIM:614700
987	LRBA	HP:0006528	Chronic lung disease	3/5	OMIM:614700
987	LRBA	HP:0006532	Recurrent pneumonia	1/5	OMIM:614700
987	LRBA	HP:0000403	Recurrent otitis media	3/10	OMIM:614700
987	LRBA	HP:0011108	Recurrent sinusitis	1/5	OMIM:614700
987	LRBA	HP:0001744	Splenomegaly	9/10	OMIM:614700
987	LRBA	HP:0000509	Conjunctivitis	1/5	OMIM:614700
987	LRBA	HP:0001890	Autoimmune hemolytic anemia	8/15	OMIM:614700
987	LRBA	HP:0000554	Uveitis	2/9	OMIM:614700
987	LRBA	HP:0030388	Decreased class-switched memory B cell proportion	4/4	OMIM:614700
987	LRBA	HP:0001873	Thrombocytopenia	1/1	OMIM:614700
987	LRBA	HP:0001876	Pancytopenia	1/5	OMIM:614700
990	CDC6	HP:0009939	Mandibular aplasia	HP:0040281	ORPHA:2554
990	CDC6	HP:0009892	Anotia	HP:0040281	ORPHA:2554
990	CDC6	HP:0008551	Microtia	1/1	OMIM:613805
990	CDC6	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
990	CDC6	HP:0001293	Cranial nerve compression	-	OMIM:131300
990	CDC6	HP:0001252	Hypotonia	2/7	OMIM:615777
990	CDC6	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2554
990	CDC6	HP:0001249	Intellectual disability	5/7	OMIM:615777
990	CDC6	HP:0001263	Global developmental delay	1/1	OMIM:613805
990	CDC6	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2554
990	CDC6	HP:0001263	Global developmental delay	-	OMIM:615777
990	CDC6	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:2554
990	CDC6	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:2554
990	CDC6	HP:0002515	Waddling gait	54/102	OMIM:131300
990	CDC6	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:2554
990	CDC6	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:2554
990	CDC6	HP:0000059	Hypoplastic labia majora	HP:0040282	ORPHA:2554
990	CDC6	HP:0000039	Epispadias	HP:0040283	ORPHA:2554
990	CDC6	HP:0000054	Micropenis	1/1	OMIM:613805
990	CDC6	HP:0001382	Joint hypermobility	-	OMIM:615777
990	CDC6	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:2554
990	CDC6	HP:0000047	Hypospadias	HP:0040283	ORPHA:2554
990	CDC6	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:2554
990	CDC6	HP:0002694	Sclerosis of skull base	-	OMIM:131300
990	CDC6	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2554
990	CDC6	HP:0000028	Cryptorchidism	1/1	OMIM:613805
990	CDC6	HP:0008897	Postnatal growth retardation	-	OMIM:615777
990	CDC6	HP:0001328	Specific learning disability	HP:0040283	ORPHA:2554
990	CDC6	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
990	CDC6	HP:0001324	Muscle weakness	40/96	OMIM:131300
990	CDC6	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
990	CDC6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
990	CDC6	HP:0000007	Autosomal recessive inheritance	-	OMIM:613805
990	CDC6	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
990	CDC6	HP:0002650	Scoliosis	12/14	OMIM:131300
990	CDC6	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
990	CDC6	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
990	CDC6	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
990	CDC6	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
990	CDC6	HP:0000193	Bifid uvula	HP:0040283	ORPHA:2554
990	CDC6	HP:0000160	Narrow mouth	HP:0040281	ORPHA:2554
990	CDC6	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:2554
990	CDC6	HP:0000176	Submucous cleft hard palate	1/1	OMIM:613805
990	CDC6	HP:0000175	Cleft palate	2/7	OMIM:615777
990	CDC6	HP:0000175	Cleft palate	HP:0040283	ORPHA:2554
990	CDC6	HP:0002705	High, narrow palate	HP:0040282	ORPHA:2554
990	CDC6	HP:0002750	Delayed skeletal maturation	1/1	OMIM:613805
990	CDC6	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2554
990	CDC6	HP:0002020	Gastroesophageal reflux	1/1	OMIM:613805
990	CDC6	HP:0002098	Respiratory distress	HP:0040282	ORPHA:2554
990	CDC6	HP:0002094	Dyspnea	HP:0040282	ORPHA:2554
990	CDC6	HP:0003388	Easy fatigability	36/76	OMIM:131300
990	CDC6	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
990	CDC6	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2554
990	CDC6	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:2554
990	CDC6	HP:0003577	Congenital onset	1/1	OMIM:613805
990	CDC6	HP:0003561	Birth length less than 3rd percentile	1/1	OMIM:613805
990	CDC6	HP:0100783	Breast aplasia	HP:0040283	ORPHA:2554
990	CDC6	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:2554
990	CDC6	HP:0011968	Feeding difficulties	1/1	OMIM:613805
990	CDC6	HP:0003510	Severe short stature	7/7	OMIM:615777
990	CDC6	HP:0003510	Severe short stature	HP:0040281	ORPHA:2554
990	CDC6	HP:0002315	Headache	-	OMIM:131300
990	CDC6	HP:0004976	Knee dislocation	6/7	OMIM:615777
990	CDC6	HP:0009803	Short phalanx of finger	-	OMIM:615777
990	CDC6	HP:0009763	Limb pain	63/92	OMIM:131300
990	CDC6	HP:0003621	Juvenile onset	-	OMIM:131300
990	CDC6	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
990	CDC6	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:2554
990	CDC6	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
990	CDC6	HP:6001056	Out-toeing	-	OMIM:131300
990	CDC6	HP:0000651	Diplopia	-	OMIM:131300
990	CDC6	HP:0001956	Truncal obesity	2/7	OMIM:615777
990	CDC6	HP:0001903	Anemia	HP:0040283	OMIM:131300
990	CDC6	HP:0010049	Short metacarpal	-	OMIM:615777
990	CDC6	HP:0011342	Mild global developmental delay	1/1	OMIM:613805
990	CDC6	HP:0000678	Dental crowding	-	OMIM:615777
990	CDC6	HP:0000670	Carious teeth	-	OMIM:131300
990	CDC6	HP:0011304	Broad thumb	2/7	OMIM:615777
990	CDC6	HP:0000668	Hypodontia	-	OMIM:615777
990	CDC6	HP:0000664	Synophrys	-	OMIM:615777
990	CDC6	HP:0004322	Short stature	1/1	OMIM:613805
990	CDC6	HP:0004396	Poor appetite	-	OMIM:131300
990	CDC6	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
990	CDC6	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
990	CDC6	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:2554
990	CDC6	HP:0003042	Elbow dislocation	1/1	OMIM:613805
990	CDC6	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
990	CDC6	HP:0003026	Short long bone	7/7	OMIM:615777
990	CDC6	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
990	CDC6	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:2554
990	CDC6	HP:0000767	Pectus excavatum	2/7	OMIM:615777
990	CDC6	HP:0000768	Pectus carinatum	1/7	OMIM:615777
990	CDC6	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
990	CDC6	HP:0000750	Delayed speech and language development	-	OMIM:615777
990	CDC6	HP:0011461	Fetal onset	7/7	OMIM:615777
990	CDC6	HP:0000774	Narrow chest	2/7	OMIM:615777
990	CDC6	HP:0003100	Slender long bone	HP:0040281	ORPHA:2554
990	CDC6	HP:0003100	Slender long bone	1/1	OMIM:613805
990	CDC6	HP:0000926	Platyspondyly	1/7	OMIM:615777
990	CDC6	HP:0003180	Flat acetabular roof	-	OMIM:615777
990	CDC6	HP:0004482	Relative macrocephaly	-	OMIM:615777
990	CDC6	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
990	CDC6	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:613805
990	CDC6	HP:0000823	Delayed puberty	-	OMIM:131300
990	CDC6	HP:0000894	Short clavicles	-	OMIM:615777
990	CDC6	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
990	CDC6	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
990	CDC6	HP:0000286	Epicanthus	1/7	OMIM:615777
990	CDC6	HP:0000280	Coarse facial features	2/7	OMIM:615777
990	CDC6	HP:0000278	Retrognathia	HP:0040281	ORPHA:2554
990	CDC6	HP:0006443	Patellar aplasia	HP:0040282	ORPHA:2554
990	CDC6	HP:0006443	Patellar aplasia	1/1	OMIM:613805
990	CDC6	HP:0002827	Hip dislocation	3/7	OMIM:615777
990	CDC6	HP:0030084	Clinodactyly	-	OMIM:613805
990	CDC6	HP:0006361	Irregular femoral epiphysis	1/1	OMIM:613805
990	CDC6	HP:0000252	Microcephaly	1/1	OMIM:613805
990	CDC6	HP:0000252	Microcephaly	HP:0040281	ORPHA:2554
990	CDC6	HP:0000252	Microcephaly	-	OMIM:615777
990	CDC6	HP:0002878	Respiratory failure	HP:0040282	ORPHA:2554
990	CDC6	HP:0002857	Genu valgum	-	OMIM:131300
990	CDC6	HP:0001533	Slender build	-	OMIM:131300
990	CDC6	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2554
990	CDC6	HP:0001508	Failure to thrive	1/1	OMIM:613805
990	CDC6	HP:0001511	Intrauterine growth retardation	1/1	OMIM:613805
990	CDC6	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
990	CDC6	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2554
990	CDC6	HP:0001510	Growth delay	HP:0040281	ORPHA:2554
990	CDC6	HP:0007807	Optic nerve compression	-	OMIM:131300
990	CDC6	HP:0000385	Small earlobe	1/1	OMIM:613805
990	CDC6	HP:0012368	Flat face	7/7	OMIM:615777
990	CDC6	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
990	CDC6	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2554
990	CDC6	HP:0000365	Hearing impairment	10/67	OMIM:131300
990	CDC6	HP:0000356	Abnormality of the outer ear	HP:0040281	ORPHA:2554
990	CDC6	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2554
990	CDC6	HP:0000369	Low-set ears	HP:0040282	ORPHA:2554
990	CDC6	HP:0000369	Low-set ears	1/1	OMIM:613805
990	CDC6	HP:0000343	Long philtrum	1/1	OMIM:613805
990	CDC6	HP:0000343	Long philtrum	1/7	OMIM:615777
990	CDC6	HP:0011001	Increased bone mineral density	-	OMIM:131300
990	CDC6	HP:0000347	Micrognathia	HP:0040281	ORPHA:2554
990	CDC6	HP:0000347	Micrognathia	2/2	OMIM:613805
990	CDC6	HP:0000311	Round face	2/7	OMIM:615777
990	CDC6	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:2554
990	CDC6	HP:0000327	Hypoplasia of the maxilla	1/1	OMIM:613805
990	CDC6	HP:0000325	Triangular face	1/1	OMIM:613805
990	CDC6	HP:0002970	Genu varum	-	OMIM:615777
990	CDC6	HP:0000303	Mandibular prognathia	-	OMIM:131300
990	CDC6	HP:0006660	Aplastic clavicle	HP:0040282	ORPHA:2554
990	CDC6	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
990	CDC6	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:2554
990	CDC6	HP:0012471	Thick vermilion border	1/1	OMIM:613805
990	CDC6	HP:0000470	Short neck	1/7	OMIM:615777
990	CDC6	HP:0001769	Broad foot	HP:0040283	OMIM:615777
990	CDC6	HP:0001763	Pes planus	1/7	OMIM:615777
990	CDC6	HP:0000413	Atresia of the external auditory canal	HP:0040281	ORPHA:2554
990	CDC6	HP:0011267	Microtia, third degree	HP:0040281	ORPHA:2554
990	CDC6	HP:0005487	Prominent metopic ridge	1/1	OMIM:613805
990	CDC6	HP:0001840	Metatarsus adductus	-	OMIM:615777
990	CDC6	HP:0000520	Proptosis	2/4	OMIM:131300
990	CDC6	HP:0000520	Proptosis	7/7	OMIM:615777
990	CDC6	HP:0000592	Blue sclerae	2/7	OMIM:615777
990	CDC6	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
990	CDC6	HP:0012514	Lower limb pain	4/4	OMIM:131300
991	CDC20	HP:0034914	Oocyte maturation arrest	5/5	OMIM:620276
991	CDC20	HP:0000007	Autosomal recessive inheritance	-	OMIM:620276
991	CDC20	HP:0008222	Female infertility	5/5	OMIM:620276
991	CDC20	HP:0011462	Young adult onset	5/5	OMIM:620276
998	CDC42	HP:0001182	Tapered finger	-	OMIM:616737
998	CDC42	HP:0001182	Tapered finger	HP:0040283	ORPHA:487796
998	CDC42	HP:0002465	Poor speech	HP:0040283	ORPHA:487796
998	CDC42	HP:0003764	Nevus	HP:0040283	ORPHA:487796
998	CDC42	HP:0003764	Nevus	-	OMIM:616737
998	CDC42	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
998	CDC42	HP:0001293	Cranial nerve compression	-	OMIM:131300
998	CDC42	HP:0001290	Generalized hypotonia	-	OMIM:616737
998	CDC42	HP:0001272	Cerebellar atrophy	1/2	OMIM:616737
998	CDC42	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:487796
998	CDC42	HP:0001250	Seizure	HP:0040284	OMIM:616737
998	CDC42	HP:0001250	Seizure	HP:0040283	ORPHA:487796
998	CDC42	HP:0001252	Hypotonia	2/7	OMIM:615777
998	CDC42	HP:0001251	Ataxia	1/2	OMIM:616737
998	CDC42	HP:0001249	Intellectual disability	-	OMIM:616737
998	CDC42	HP:0001249	Intellectual disability	HP:0040282	ORPHA:487796
998	CDC42	HP:0001249	Intellectual disability	5/7	OMIM:615777
998	CDC42	HP:0001263	Global developmental delay	2/2	OMIM:616737
998	CDC42	HP:0001263	Global developmental delay	HP:0040283	ORPHA:487796
998	CDC42	HP:0001263	Global developmental delay	-	OMIM:615777
998	CDC42	HP:0410263	Brain imaging abnormality	HP:0040281	ORPHA:487796
998	CDC42	HP:0002553	Highly arched eyebrow	2/2	OMIM:616737
998	CDC42	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:487796
998	CDC42	HP:0002518	Abnormal periventricular white matter morphology	HP:0040282	ORPHA:487796
998	CDC42	HP:0002518	Abnormal periventricular white matter morphology	-	OMIM:616737
998	CDC42	HP:0002515	Waddling gait	54/102	OMIM:131300
998	CDC42	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:616737
998	CDC42	HP:0001371	Flexion contracture	HP:0040283	ORPHA:487796
998	CDC42	HP:0001382	Joint hypermobility	-	OMIM:615777
998	CDC42	HP:0000047	Hypospadias	-	OMIM:616737
998	CDC42	HP:0000047	Hypospadias	HP:0040283	ORPHA:487796
998	CDC42	HP:0000023	Inguinal hernia	HP:0040283	OMIM:616737
998	CDC42	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:487796
998	CDC42	HP:0002694	Sclerosis of skull base	-	OMIM:131300
998	CDC42	HP:0000028	Cryptorchidism	-	OMIM:616737
998	CDC42	HP:0008897	Postnatal growth retardation	-	OMIM:615777
998	CDC42	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:487796
998	CDC42	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
998	CDC42	HP:0001324	Muscle weakness	40/96	OMIM:131300
998	CDC42	HP:0001344	Absent speech	-	OMIM:616737
998	CDC42	HP:0001344	Absent speech	HP:0040283	ORPHA:487796
998	CDC42	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
998	CDC42	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
998	CDC42	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
998	CDC42	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
998	CDC42	HP:0000006	Autosomal dominant inheritance	-	OMIM:616737
998	CDC42	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:487796
998	CDC42	HP:0002650	Scoliosis	-	OMIM:616737
998	CDC42	HP:0002650	Scoliosis	HP:0040282	ORPHA:487796
998	CDC42	HP:0002650	Scoliosis	12/14	OMIM:131300
998	CDC42	HP:0001321	Cerebellar hypoplasia	-	OMIM:616737
998	CDC42	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
998	CDC42	HP:0002619	Varicose veins	-	OMIM:153400
998	CDC42	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
998	CDC42	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
998	CDC42	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
998	CDC42	HP:0000175	Cleft palate	5/39	OMIM:153400
998	CDC42	HP:0000175	Cleft palate	2/7	OMIM:615777
998	CDC42	HP:0000154	Wide mouth	-	OMIM:616737
998	CDC42	HP:0000154	Wide mouth	HP:0040283	ORPHA:487796
998	CDC42	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:487796
998	CDC42	HP:0007655	Eversion of lateral third of lower eyelids	HP:0040283	ORPHA:487796
998	CDC42	HP:0007655	Eversion of lateral third of lower eyelids	2/2	OMIM:616737
998	CDC42	HP:0008947	Floppy infant	HP:0040283	ORPHA:487796
998	CDC42	HP:0000122	Unilateral renal agenesis	-	OMIM:616737
998	CDC42	HP:0000122	Unilateral renal agenesis	HP:0040283	ORPHA:487796
998	CDC42	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:487796
998	CDC42	HP:0000126	Hydronephrosis	-	OMIM:616737
998	CDC42	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:487796
998	CDC42	HP:0002719	Recurrent infections	-	OMIM:616737
998	CDC42	HP:0002719	Recurrent infections	HP:0040282	ORPHA:487796
998	CDC42	HP:0002714	Downturned corners of mouth	-	OMIM:616737
998	CDC42	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:487796
998	CDC42	HP:0002721	Immunodeficiency	-	OMIM:616737
998	CDC42	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:487796
998	CDC42	HP:0011800	Midface retrusion	2/2	OMIM:616737
998	CDC42	HP:0011800	Midface retrusion	HP:0040283	ORPHA:487796
998	CDC42	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:616737
998	CDC42	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:487796
998	CDC42	HP:0003388	Easy fatigability	36/76	OMIM:131300
998	CDC42	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
998	CDC42	HP:0002120	Cerebral cortical atrophy	-	OMIM:616737
998	CDC42	HP:0002119	Ventriculomegaly	2/2	OMIM:616737
998	CDC42	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:487796
998	CDC42	HP:0009623	Proximal placement of thumb	HP:0040283	ORPHA:487796
998	CDC42	HP:0009623	Proximal placement of thumb	-	OMIM:616737
998	CDC42	HP:0011877	Increased mean platelet volume	HP:0040282	ORPHA:487796
998	CDC42	HP:0011877	Increased mean platelet volume	2/2	OMIM:616737
998	CDC42	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
998	CDC42	HP:0100763	Abnormality of the lymphatic system	HP:0040283	ORPHA:487796
998	CDC42	HP:0009743	Distichiasis	42/42	OMIM:153400
998	CDC42	HP:0007033	Cerebellar dysplasia	HP:0040283	ORPHA:487796
998	CDC42	HP:0003510	Severe short stature	7/7	OMIM:615777
998	CDC42	HP:0001004	Lymphedema	2/2	OMIM:616737
998	CDC42	HP:0001004	Lymphedema	HP:0040283	ORPHA:487796
998	CDC42	HP:0001004	Lymphedema	-	OMIM:153400
998	CDC42	HP:0002315	Headache	-	OMIM:131300
998	CDC42	HP:0004976	Knee dislocation	6/7	OMIM:615777
998	CDC42	HP:0100658	Cellulitis	2/6	OMIM:153400
998	CDC42	HP:0010804	Tented upper lip vermilion	HP:0040283	ORPHA:487796
998	CDC42	HP:0009803	Short phalanx of finger	-	OMIM:615777
998	CDC42	HP:0009763	Limb pain	63/92	OMIM:131300
998	CDC42	HP:0003621	Juvenile onset	-	OMIM:131300
998	CDC42	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
998	CDC42	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
998	CDC42	HP:6001056	Out-toeing	-	OMIM:131300
998	CDC42	HP:0000651	Diplopia	-	OMIM:131300
998	CDC42	HP:0000648	Optic atrophy	-	OMIM:616737
998	CDC42	HP:0000648	Optic atrophy	HP:0040283	ORPHA:487796
998	CDC42	HP:0000613	Photophobia	10/49	OMIM:153400
998	CDC42	HP:0001956	Truncal obesity	2/7	OMIM:615777
998	CDC42	HP:0001903	Anemia	HP:0040283	OMIM:131300
998	CDC42	HP:0010049	Short metacarpal	-	OMIM:615777
998	CDC42	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
998	CDC42	HP:0000678	Dental crowding	-	OMIM:615777
998	CDC42	HP:0000689	Dental malocclusion	2/2	OMIM:616737
998	CDC42	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:487796
998	CDC42	HP:0000687	Widely spaced teeth	-	OMIM:616737
998	CDC42	HP:0000687	Widely spaced teeth	HP:0040283	ORPHA:487796
998	CDC42	HP:0000656	Ectropion	2/43	OMIM:153400
998	CDC42	HP:0000670	Carious teeth	-	OMIM:131300
998	CDC42	HP:0011304	Broad thumb	2/7	OMIM:615777
998	CDC42	HP:0000668	Hypodontia	-	OMIM:615777
998	CDC42	HP:0001999	Abnormal facial shape	-	OMIM:616737
998	CDC42	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:487796
998	CDC42	HP:0000664	Synophrys	-	OMIM:616737
998	CDC42	HP:0000664	Synophrys	-	OMIM:615777
998	CDC42	HP:0000664	Synophrys	HP:0040283	ORPHA:487796
998	CDC42	HP:0004396	Poor appetite	-	OMIM:131300
998	CDC42	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
998	CDC42	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
998	CDC42	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
998	CDC42	HP:0003011	Abnormality of the musculature	-	OMIM:153400
998	CDC42	HP:0003026	Short long bone	7/7	OMIM:615777
998	CDC42	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
998	CDC42	HP:0000767	Pectus excavatum	2/7	OMIM:615777
998	CDC42	HP:0000766	Abnormal sternum morphology	HP:0040282	ORPHA:487796
998	CDC42	HP:0000766	Abnormal sternum morphology	-	OMIM:616737
998	CDC42	HP:0000768	Pectus carinatum	1/7	OMIM:615777
998	CDC42	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
998	CDC42	HP:0000750	Delayed speech and language development	-	OMIM:615777
998	CDC42	HP:0000708	Atypical behavior	-	OMIM:616737
998	CDC42	HP:0011461	Fetal onset	7/7	OMIM:615777
998	CDC42	HP:0000774	Narrow chest	2/7	OMIM:615777
998	CDC42	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:487796
998	CDC42	HP:0000926	Platyspondyly	1/7	OMIM:615777
998	CDC42	HP:0003180	Flat acetabular roof	-	OMIM:615777
998	CDC42	HP:0004482	Relative macrocephaly	-	OMIM:615777
998	CDC42	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
998	CDC42	HP:0012804	Corneal ulceration	-	OMIM:153400
998	CDC42	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:487796
998	CDC42	HP:0000823	Delayed puberty	-	OMIM:131300
998	CDC42	HP:0000894	Short clavicles	-	OMIM:615777
998	CDC42	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
998	CDC42	HP:0045075	Sparse eyebrow	-	OMIM:616737
998	CDC42	HP:0045075	Sparse eyebrow	HP:0040283	ORPHA:487796
998	CDC42	HP:0010310	Chylothorax	1/6	OMIM:153400
998	CDC42	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
998	CDC42	HP:0011675	Arrhythmia	-	OMIM:153400
998	CDC42	HP:0000286	Epicanthus	1/7	OMIM:615777
998	CDC42	HP:0000280	Coarse facial features	2/7	OMIM:615777
998	CDC42	HP:0002827	Hip dislocation	3/7	OMIM:615777
998	CDC42	HP:0030084	Clinodactyly	-	OMIM:616737
998	CDC42	HP:0030084	Clinodactyly	HP:0040283	ORPHA:487796
998	CDC42	HP:0002808	Kyphosis	2/5	OMIM:153400
998	CDC42	HP:0000253	Progressive microcephaly	2/2	OMIM:616737
998	CDC42	HP:0000252	Microcephaly	HP:0040283	ORPHA:487796
998	CDC42	HP:0000252	Microcephaly	-	OMIM:615777
998	CDC42	HP:0000219	Thin upper lip vermilion	2/2	OMIM:616737
998	CDC42	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:487796
998	CDC42	HP:0002857	Genu valgum	-	OMIM:131300
998	CDC42	HP:0001533	Slender build	-	OMIM:131300
998	CDC42	HP:0000204	Cleft upper lip	-	OMIM:153400
998	CDC42	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
998	CDC42	HP:0007807	Optic nerve compression	-	OMIM:131300
998	CDC42	HP:0012385	Camptodactyly	2/2	OMIM:616737
998	CDC42	HP:0012385	Camptodactyly	HP:0040283	ORPHA:487796
998	CDC42	HP:0012368	Flat face	7/7	OMIM:615777
998	CDC42	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
998	CDC42	HP:0005160	Total anomalous pulmonary venous return	HP:0040283	ORPHA:487796
998	CDC42	HP:0000365	Hearing impairment	HP:0040283	ORPHA:487796
998	CDC42	HP:0000365	Hearing impairment	10/67	OMIM:131300
998	CDC42	HP:0000358	Posteriorly rotated ears	-	OMIM:616737
998	CDC42	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:487796
998	CDC42	HP:0000369	Low-set ears	-	OMIM:616737
998	CDC42	HP:0000341	Narrow forehead	-	OMIM:616737
998	CDC42	HP:0000341	Narrow forehead	HP:0040283	ORPHA:487796
998	CDC42	HP:0001671	Abnormal cardiac septum morphology	-	OMIM:616737
998	CDC42	HP:0000343	Long philtrum	-	OMIM:616737
998	CDC42	HP:0000343	Long philtrum	1/7	OMIM:615777
998	CDC42	HP:0000343	Long philtrum	HP:0040283	ORPHA:487796
998	CDC42	HP:0011001	Increased bone mineral density	-	OMIM:131300
998	CDC42	HP:0000347	Micrognathia	2/5	OMIM:153400
998	CDC42	HP:0000319	Smooth philtrum	-	OMIM:616737
998	CDC42	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:487796
998	CDC42	HP:0000316	Hypertelorism	-	OMIM:616737
998	CDC42	HP:0000316	Hypertelorism	HP:0040283	ORPHA:487796
998	CDC42	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
998	CDC42	HP:0001643	Patent ductus arteriosus	1/2	OMIM:616737
998	CDC42	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:487796
998	CDC42	HP:0000311	Round face	2/7	OMIM:615777
998	CDC42	HP:0001642	Pulmonic stenosis	-	OMIM:616737
998	CDC42	HP:0000322	Short philtrum	2/2	OMIM:616737
998	CDC42	HP:0000322	Short philtrum	HP:0040283	ORPHA:487796
998	CDC42	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
998	CDC42	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:487796
998	CDC42	HP:0002970	Genu varum	-	OMIM:615777
998	CDC42	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
998	CDC42	HP:0000303	Mandibular prognathia	-	OMIM:131300
998	CDC42	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:616737
998	CDC42	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
998	CDC42	HP:0000486	Strabismus	HP:0040283	ORPHA:487796
998	CDC42	HP:0000476	Cystic hygroma	2/43	OMIM:153400
998	CDC42	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
998	CDC42	HP:0000494	Downslanted palpebral fissures	-	OMIM:616737
998	CDC42	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:487796
998	CDC42	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
998	CDC42	HP:0000454	Flared nostrils	HP:0040283	ORPHA:487796
998	CDC42	HP:0000454	Flared nostrils	-	OMIM:616737
998	CDC42	HP:0000470	Short neck	1/7	OMIM:615777
998	CDC42	HP:0000465	Webbed neck	-	OMIM:616737
998	CDC42	HP:0000465	Webbed neck	HP:0040283	ORPHA:487796
998	CDC42	HP:0000465	Webbed neck	6/43	OMIM:153400
998	CDC42	HP:0001769	Broad foot	HP:0040283	OMIM:615777
998	CDC42	HP:0001763	Pes planus	1/7	OMIM:615777
998	CDC42	HP:0000414	Bulbous nose	-	OMIM:616737
998	CDC42	HP:0000414	Bulbous nose	HP:0040283	ORPHA:487796
998	CDC42	HP:0000431	Wide nasal bridge	-	OMIM:616737
998	CDC42	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:487796
998	CDC42	HP:0001845	Overlapping toe	HP:0040283	ORPHA:487796
998	CDC42	HP:0001845	Overlapping toe	-	OMIM:616737
998	CDC42	HP:0001840	Metatarsus adductus	-	OMIM:615777
998	CDC42	HP:0000520	Proptosis	2/4	OMIM:131300
998	CDC42	HP:0000520	Proptosis	7/7	OMIM:615777
998	CDC42	HP:0000509	Conjunctivitis	-	OMIM:153400
998	CDC42	HP:0000508	Ptosis	2/39	OMIM:153400
998	CDC42	HP:0000508	Ptosis	2/2	OMIM:616737
998	CDC42	HP:0000508	Ptosis	HP:0040283	ORPHA:487796
998	CDC42	HP:0000582	Upslanted palpebral fissure	-	OMIM:616737
998	CDC42	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:487796
998	CDC42	HP:0000577	Exotropia	2/2	OMIM:616737
998	CDC42	HP:0000577	Exotropia	HP:0040283	ORPHA:487796
998	CDC42	HP:0000592	Blue sclerae	2/7	OMIM:615777
998	CDC42	HP:0011220	Prominent forehead	-	OMIM:616737
998	CDC42	HP:0011220	Prominent forehead	HP:0040283	ORPHA:487796
998	CDC42	HP:0000568	Microphthalmia	1/6	OMIM:153400
998	CDC42	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
998	CDC42	HP:0012514	Lower limb pain	4/4	OMIM:131300
998	CDC42	HP:0001873	Thrombocytopenia	HP:0040284	OMIM:616737
998	CDC42	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:487796
999	CDH1	HP:0009890	High anterior hairline	HP:0040284	OMIM:119580
999	CDH1	HP:0002582	Atrophic gastritis	-	OMIM:137215
999	CDH1	HP:0002576	Intussusception	HP:0040283	OMIM:174900
999	CDH1	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
999	CDH1	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:1997
999	CDH1	HP:0001217	Clubbing	HP:0040283	OMIM:174900
999	CDH1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199306
999	CDH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
999	CDH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
999	CDH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:608089
999	CDH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
999	CDH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:167000
999	CDH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:137215
999	CDH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:119580
999	CDH1	HP:0000175	Cleft palate	HP:0040282	ORPHA:199306
999	CDH1	HP:0000175	Cleft palate	HP:0040283	OMIM:137215
999	CDH1	HP:0012126	Stomach cancer	5/5	OMIM:137215
999	CDH1	HP:0012114	Endometrial carcinoma	-	OMIM:608089
999	CDH1	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:199306
999	CDH1	HP:0007651	Ectropion of lower eyelids	8/8	OMIM:119580
999	CDH1	HP:0007651	Ectropion of lower eyelids	HP:0040281	ORPHA:1997
999	CDH1	HP:0006292	Abnormality of dental eruption	HP:0040281	ORPHA:199306
999	CDH1	HP:0001442	Typified by somatic mosaicism	-	OMIM:608089
999	CDH1	HP:0001442	Typified by somatic mosaicism	-	OMIM:167000
999	CDH1	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
999	CDH1	HP:0002023	Anal atresia	2/8	OMIM:119580
999	CDH1	HP:0002023	Anal atresia	HP:0040283	ORPHA:1997
999	CDH1	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
999	CDH1	HP:0002033	Poor suck	HP:0040282	ORPHA:199306
999	CDH1	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
999	CDH1	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
999	CDH1	HP:0002164	Nail dysplasia	5/8	OMIM:119580
999	CDH1	HP:0003581	Adult onset	5/5	OMIM:137215
999	CDH1	HP:0009743	Distichiasis	8/8	OMIM:119580
999	CDH1	HP:0009743	Distichiasis	HP:0040281	ORPHA:1997
999	CDH1	HP:0200153	Agenesis of lateral incisor	HP:0040283	ORPHA:199306
999	CDH1	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:199306
999	CDH1	HP:0200040	Epidermoid cyst	HP:0040283	ORPHA:1997
999	CDH1	HP:0100621	Dysgerminoma	-	OMIM:167000
999	CDH1	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:199306
999	CDH1	HP:0001903	Anemia	HP:0040282	OMIM:174900
999	CDH1	HP:0011362	Abnormal hair quantity	HP:0040283	ORPHA:1997
999	CDH1	HP:0000698	Conical tooth	6/8	OMIM:119580
999	CDH1	HP:0000698	Conical tooth	HP:0040282	ORPHA:1997
999	CDH1	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:199306
999	CDH1	HP:0000670	Carious teeth	HP:0040282	ORPHA:1997
999	CDH1	HP:0000668	Hypodontia	-	OMIM:119580
999	CDH1	HP:0003002	Breast carcinoma	-	OMIM:167000
999	CDH1	HP:0003002	Breast carcinoma	-	OMIM:114480
999	CDH1	HP:0003003	Colon cancer	20%	OMIM:174900
999	CDH1	HP:0003003	Colon cancer	5/12	OMIM:608456
999	CDH1	HP:0003073	Hypoalbuminemia	-	OMIM:174900
999	CDH1	HP:0004395	Malnutrition	HP:0040283	ORPHA:199306
999	CDH1	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
999	CDH1	HP:0012725	Cutaneous syndactyly	2/8	OMIM:119580
999	CDH1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:199306
999	CDH1	HP:0012905	Euryblepharon	8/8	OMIM:119580
999	CDH1	HP:0012905	Euryblepharon	HP:0040282	ORPHA:1997
999	CDH1	HP:0004471	Aplasia cutis congenita over the scalp vertex	2/8	OMIM:119580
999	CDH1	HP:0100337	Bilateral cleft palate	HP:0040283	ORPHA:199306
999	CDH1	HP:0100337	Bilateral cleft palate	HP:0040281	ORPHA:1997
999	CDH1	HP:0100334	Unilateral cleft palate	HP:0040282	ORPHA:199306
999	CDH1	HP:0010294	Palate fistula	HP:0040283	ORPHA:199306
999	CDH1	HP:0045005	Neural tube defect	2/8	OMIM:119580
999	CDH1	HP:0008070	Sparse hair	7/8	OMIM:119580
999	CDH1	HP:0030084	Clinodactyly	-	OMIM:119580
999	CDH1	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:199306
999	CDH1	HP:0030001	Lagophthalmos	8/8	OMIM:119580
999	CDH1	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:199306
999	CDH1	HP:0000204	Cleft upper lip	7/8	OMIM:119580
999	CDH1	HP:0000204	Cleft upper lip	HP:0040283	OMIM:137215
999	CDH1	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
999	CDH1	HP:0012368	Flat face	8/8	OMIM:119580
999	CDH1	HP:0011044	Abnormal number of permanent teeth	HP:0040283	ORPHA:199306
999	CDH1	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
999	CDH1	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:199306
999	CDH1	HP:0002900	Hypokalemia	-	OMIM:174900
999	CDH1	HP:0000348	High forehead	8/8	OMIM:119580
999	CDH1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:1997
999	CDH1	HP:0000316	Hypertelorism	8/8	OMIM:119580
999	CDH1	HP:0000327	Hypoplasia of the maxilla	HP:0040284	ORPHA:199306
999	CDH1	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:199306
999	CDH1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:199306
999	CDH1	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:1997
999	CDH1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:1997
999	CDH1	HP:0000492	Abnormal eyelid morphology	HP:0040281	ORPHA:1997
999	CDH1	HP:0001792	Small nail	-	OMIM:119580
999	CDH1	HP:0000453	Choanal atresia	1/8	OMIM:119580
999	CDH1	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
999	CDH1	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
999	CDH1	HP:0006774	Ovarian papillary adenocarcinoma	-	OMIM:167000
999	CDH1	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1997
1000	CDH2	HP:0010862	Delayed fine motor development	2/8	OMIM:618929
1000	CDH2	HP:0001274	Agenesis of corpus callosum	7/9	OMIM:618929
1000	CDH2	HP:0001249	Intellectual disability	4/8	OMIM:618929
1000	CDH2	HP:0001263	Global developmental delay	6/8	OMIM:618929
1000	CDH2	HP:0002558	Supernumerary nipple	1/9	OMIM:618929
1000	CDH2	HP:0008765	Auditory hallucination	1/8	OMIM:618929
1000	CDH2	HP:0032327	Interhemispheric cyst	2/9	OMIM:618929
1000	CDH2	HP:0000054	Micropenis	1/5	OMIM:618929
1000	CDH2	HP:0000028	Cryptorchidism	3/5	OMIM:618929
1000	CDH2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619957
1000	CDH2	HP:0001335	Bimanual synkinesia	1/9	OMIM:618929
1000	CDH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618920
1000	CDH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618929
1000	CDH2	HP:0008936	Axial hypotonia	3/9	OMIM:618929
1000	CDH2	HP:0002007	Frontal bossing	3/9	OMIM:618929
1000	CDH2	HP:0033105	Interhypothalamic adhesion	5/9	OMIM:618929
1000	CDH2	HP:0011713	Left bundle branch block	4/7	OMIM:618920
1000	CDH2	HP:0004756	Ventricular tachycardia	2/7	OMIM:618920
1000	CDH2	HP:0002194	Delayed gross motor development	1/8	OMIM:618929
1000	CDH2	HP:0002162	Low posterior hairline	1/9	OMIM:618929
1000	CDH2	HP:0003596	Middle age onset	2/7	OMIM:618920
1000	CDH2	HP:0100710	Impulsivity	1/8	OMIM:618929
1000	CDH2	HP:0100716	Self-injurious behavior	1/8	OMIM:618929
1000	CDH2	HP:0002280	Enlarged cisterna magna	2/9	OMIM:618929
1000	CDH2	HP:0100749	Chest pain	4/7	OMIM:618920
1000	CDH2	HP:0007018	Attention deficit hyperactivity disorder	3/3	OMIM:619957
1000	CDH2	HP:0007018	Attention deficit hyperactivity disorder	2/8	OMIM:618929
1000	CDH2	HP:0002384	Focal impaired awareness seizure	1/8	OMIM:618929
1000	CDH2	HP:0007165	Periventricular heterotopia	4/9	OMIM:618929
1000	CDH2	HP:0003621	Juvenile onset	3/7	OMIM:618920
1000	CDH2	HP:0001962	Palpitations	7/7	OMIM:618920
1000	CDH2	HP:0011342	Mild global developmental delay	1/3	OMIM:619957
1000	CDH2	HP:0000659	Peters anomaly	2/9	OMIM:618929
1000	CDH2	HP:0000664	Synophrys	1/9	OMIM:618929
1000	CDH2	HP:0031972	Presyncope	2/7	OMIM:618920
1000	CDH2	HP:0000739	Anxiety	2/8	OMIM:618929
1000	CDH2	HP:0000729	Autistic behavior	2/8	OMIM:618929
1000	CDH2	HP:0011463	Childhood onset	3/3	OMIM:619957
1000	CDH2	HP:0011462	Young adult onset	2/7	OMIM:618920
1000	CDH2	HP:0000912	Sprengel anomaly	2/9	OMIM:618929
1000	CDH2	HP:0000256	Macrocephaly	4/8	OMIM:618929
1000	CDH2	HP:0005133	Right ventricular dilatation	-	OMIM:618920
1000	CDH2	HP:0000219	Thin upper lip vermilion	5/9	OMIM:618929
1000	CDH2	HP:0000218	High palate	1/9	OMIM:618929
1000	CDH2	HP:0000391	Thickened helices	3/9	OMIM:618929
1000	CDH2	HP:0005180	Tricuspid regurgitation	1/9	OMIM:618929
1000	CDH2	HP:0000358	Posteriorly rotated ears	4/9	OMIM:618929
1000	CDH2	HP:0000369	Low-set ears	4/9	OMIM:618929
1000	CDH2	HP:0000343	Long philtrum	1/9	OMIM:618929
1000	CDH2	HP:0000337	Broad forehead	2/9	OMIM:618929
1000	CDH2	HP:0001680	Coarctation of aorta	2/9	OMIM:618929
1000	CDH2	HP:0001651	Dextrocardia	1/9	OMIM:618929
1000	CDH2	HP:0000319	Smooth philtrum	1/9	OMIM:618929
1000	CDH2	HP:0000316	Hypertelorism	2/9	OMIM:618929
1000	CDH2	HP:0000322	Short philtrum	1/9	OMIM:618929
1000	CDH2	HP:0000307	Pointed chin	2/9	OMIM:618929
1000	CDH2	HP:0006695	Atrioventricular canal defect	2/9	OMIM:618929
1000	CDH2	HP:0006682	Premature ventricular contraction	2/7	OMIM:618920
1000	CDH2	HP:0005280	Depressed nasal bridge	1/9	OMIM:618929
1000	CDH2	HP:0000486	Strabismus	3/9	OMIM:618929
1000	CDH2	HP:0012469	Infantile spasms	1/8	OMIM:618929
1000	CDH2	HP:0000494	Downslanted palpebral fissures	4/9	OMIM:618929
1000	CDH2	HP:0000490	Deeply set eye	2/9	OMIM:618929
1000	CDH2	HP:0000506	Telecanthus	1/9	OMIM:618929
1000	CDH2	HP:0011220	Prominent forehead	4/9	OMIM:618929
1001	CDH3	HP:0001171	Split hand	1/5	OMIM:225280
1001	CDH3	HP:0001155	Abnormality of the hand	0/1	OMIM:601553
1001	CDH3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
1001	CDH3	HP:0003777	Pili torti	12/12	OMIM:601553
1001	CDH3	HP:0003777	Pili torti	HP:0040282	ORPHA:1573
1001	CDH3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1001	CDH3	HP:0001293	Cranial nerve compression	-	OMIM:131300
1001	CDH3	HP:0001252	Hypotonia	2/7	OMIM:615777
1001	CDH3	HP:0001249	Intellectual disability	5/7	OMIM:615777
1001	CDH3	HP:0001263	Global developmental delay	-	OMIM:615777
1001	CDH3	HP:0001233	2-3 finger cutaneous syndactyly	1/5	OMIM:225280
1001	CDH3	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:1897
1001	CDH3	HP:0007401	Macular atrophy	1/1	OMIM:601553
1001	CDH3	HP:0002515	Waddling gait	54/102	OMIM:131300
1001	CDH3	HP:0001382	Joint hypermobility	-	OMIM:615777
1001	CDH3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1001	CDH3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1001	CDH3	HP:0007502	Follicular hyperkeratosis	1/1	OMIM:601553
1001	CDH3	HP:0032497	Reduced terminal:vellus ratio	-	OMIM:601553
1001	CDH3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1001	CDH3	HP:0001324	Muscle weakness	40/96	OMIM:131300
1001	CDH3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1001	CDH3	HP:0000007	Autosomal recessive inheritance	-	OMIM:225280
1001	CDH3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
1001	CDH3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1001	CDH3	HP:0000007	Autosomal recessive inheritance	20/20	OMIM:601553
1001	CDH3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
1001	CDH3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1001	CDH3	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:1573
1001	CDH3	HP:0002650	Scoliosis	12/14	OMIM:131300
1001	CDH3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1001	CDH3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1001	CDH3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1001	CDH3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1001	CDH3	HP:0000164	Abnormality of the dentition	0/1	OMIM:601553
1001	CDH3	HP:0000175	Cleft palate	2/7	OMIM:615777
1001	CDH3	HP:0001480	Freckling	HP:0040283	ORPHA:1573
1001	CDH3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
1001	CDH3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
1001	CDH3	HP:0007663	Reduced visual acuity	3/3	OMIM:601553
1001	CDH3	HP:0003388	Easy fatigability	36/76	OMIM:131300
1001	CDH3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1001	CDH3	HP:0009473	Joint contracture of the hand	-	OMIM:225280
1001	CDH3	HP:0011939	3-4 finger cutaneous syndactyly	1/5	OMIM:225280
1001	CDH3	HP:0003593	Infantile onset	12/12	OMIM:601553
1001	CDH3	HP:0003577	Congenital onset	5/5	OMIM:225280
1001	CDH3	HP:0003577	Congenital onset	1/1	OMIM:601553
1001	CDH3	HP:0002223	Absent eyebrow	HP:0040282	ORPHA:1897
1001	CDH3	HP:0002231	Sparse body hair	HP:0040281	ORPHA:1897
1001	CDH3	HP:0002213	Fine hair	HP:0040282	ORPHA:1573
1001	CDH3	HP:0002209	Sparse scalp hair	1/1	OMIM:601553
1001	CDH3	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:1573
1001	CDH3	HP:0002209	Sparse scalp hair	-	OMIM:225280
1001	CDH3	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:1897
1001	CDH3	HP:0010709	2-4 finger cutaneous syndactyly	1/5	OMIM:225280
1001	CDH3	HP:0010707	1-4 finger cutaneous syndactyly	1/5	OMIM:225280
1001	CDH3	HP:0002299	Brittle hair	HP:0040282	ORPHA:1573
1001	CDH3	HP:0003510	Severe short stature	7/7	OMIM:615777
1001	CDH3	HP:0002315	Headache	-	OMIM:131300
1001	CDH3	HP:0004976	Knee dislocation	6/7	OMIM:615777
1001	CDH3	HP:0200040	Epidermoid cyst	1/1	OMIM:601553
1001	CDH3	HP:0009803	Short phalanx of finger	-	OMIM:615777
1001	CDH3	HP:0009779	3-4 toe syndactyly	1/5	OMIM:225280
1001	CDH3	HP:0009763	Limb pain	63/92	OMIM:131300
1001	CDH3	HP:0003621	Juvenile onset	8/19	OMIM:180100
1001	CDH3	HP:0003621	Juvenile onset	-	OMIM:131300
1001	CDH3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1001	CDH3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1001	CDH3	HP:0000639	Nystagmus	HP:0040283	ORPHA:1573
1001	CDH3	HP:6001056	Out-toeing	-	OMIM:131300
1001	CDH3	HP:0000651	Diplopia	-	OMIM:131300
1001	CDH3	HP:0000618	Blindness	-	OMIM:601553
1001	CDH3	HP:0000618	Blindness	HP:0040281	ORPHA:1573
1001	CDH3	HP:0001956	Truncal obesity	2/7	OMIM:615777
1001	CDH3	HP:0000608	Macular degeneration	11/11	OMIM:601553
1001	CDH3	HP:0000608	Macular degeneration	HP:0040281	ORPHA:1573
1001	CDH3	HP:0001903	Anemia	HP:0040283	OMIM:131300
1001	CDH3	HP:0010049	Short metacarpal	-	OMIM:615777
1001	CDH3	HP:0030491	Choriocapillaris atrophy	1/1	OMIM:601553
1001	CDH3	HP:0000678	Dental crowding	-	OMIM:615777
1001	CDH3	HP:0000691	Microdontia	-	OMIM:225280
1001	CDH3	HP:0000691	Microdontia	HP:0040282	ORPHA:1897
1001	CDH3	HP:0000687	Widely spaced teeth	-	OMIM:225280
1001	CDH3	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:1897
1001	CDH3	HP:0000662	Nyctalopia	26/28	OMIM:180100
1001	CDH3	HP:0000653	Sparse eyelashes	-	OMIM:225280
1001	CDH3	HP:0000670	Carious teeth	-	OMIM:131300
1001	CDH3	HP:0000670	Carious teeth	HP:0040282	ORPHA:1897
1001	CDH3	HP:0011304	Broad thumb	2/7	OMIM:615777
1001	CDH3	HP:0000668	Hypodontia	-	OMIM:615777
1001	CDH3	HP:0000664	Synophrys	-	OMIM:615777
1001	CDH3	HP:0004322	Short stature	HP:0040281	ORPHA:1573
1001	CDH3	HP:0004396	Poor appetite	-	OMIM:131300
1001	CDH3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1001	CDH3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1001	CDH3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1001	CDH3	HP:0003026	Short long bone	7/7	OMIM:615777
1001	CDH3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1001	CDH3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1001	CDH3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1001	CDH3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1001	CDH3	HP:0000750	Delayed speech and language development	-	OMIM:615777
1001	CDH3	HP:0011463	Childhood onset	3/19	OMIM:180100
1001	CDH3	HP:0011463	Childhood onset	1/1	OMIM:601553
1001	CDH3	HP:0011462	Young adult onset	8/19	OMIM:180100
1001	CDH3	HP:0011461	Fetal onset	7/7	OMIM:615777
1001	CDH3	HP:0000774	Narrow chest	2/7	OMIM:615777
1001	CDH3	HP:0000926	Platyspondyly	1/7	OMIM:615777
1001	CDH3	HP:0003180	Flat acetabular roof	-	OMIM:615777
1001	CDH3	HP:0004482	Relative macrocephaly	-	OMIM:615777
1001	CDH3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1001	CDH3	HP:0011509	Macular hyperpigmentation	1/1	OMIM:601553
1001	CDH3	HP:0100326	Immunologic hypersensitivity	HP:0040283	ORPHA:1573
1001	CDH3	HP:0000823	Delayed puberty	-	OMIM:131300
1001	CDH3	HP:0000894	Short clavicles	-	OMIM:615777
1001	CDH3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1001	CDH3	HP:0045075	Sparse eyebrow	-	OMIM:225280
1001	CDH3	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:1573
1001	CDH3	HP:0100257	Ectrodactyly	HP:0040281	ORPHA:1897
1001	CDH3	HP:0008002	Abnormality of macular pigmentation	HP:0040281	ORPHA:1573
1001	CDH3	HP:0000980	Pallor	1/1	OMIM:601553
1001	CDH3	HP:0000975	Hyperhidrosis	0/5	OMIM:225280
1001	CDH3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1001	CDH3	HP:0000968	Ectodermal dysplasia	-	OMIM:225280
1001	CDH3	HP:0000962	Hyperkeratosis	HP:0040283	ORPHA:1573
1001	CDH3	HP:0008070	Sparse hair	1/1	OMIM:601553
1001	CDH3	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1897
1001	CDH3	HP:0000286	Epicanthus	1/7	OMIM:615777
1001	CDH3	HP:0000280	Coarse facial features	2/7	OMIM:615777
1001	CDH3	HP:0001597	Abnormal nail morphology	0/1	OMIM:601553
1001	CDH3	HP:0001592	Selective tooth agenesis	-	OMIM:225280
1001	CDH3	HP:0001592	Selective tooth agenesis	HP:0040282	ORPHA:1897
1001	CDH3	HP:0007754	Macular dystrophy	-	OMIM:225280
1001	CDH3	HP:0007754	Macular dystrophy	1/1	OMIM:601553
1001	CDH3	HP:0007754	Macular dystrophy	HP:0040281	ORPHA:1897
1001	CDH3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
1001	CDH3	HP:0002813	Abnormal limb bone morphology	HP:0040283	ORPHA:1573
1001	CDH3	HP:0002827	Hip dislocation	3/7	OMIM:615777
1001	CDH3	HP:0000252	Microcephaly	-	OMIM:615777
1001	CDH3	HP:0002857	Genu valgum	-	OMIM:131300
1001	CDH3	HP:0001533	Slender build	-	OMIM:131300
1001	CDH3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1001	CDH3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
1001	CDH3	HP:0007807	Optic nerve compression	-	OMIM:131300
1001	CDH3	HP:0012385	Camptodactyly	-	OMIM:225280
1001	CDH3	HP:0031528	Subretinal deposits	1/1	OMIM:601553
1001	CDH3	HP:0012368	Flat face	7/7	OMIM:615777
1001	CDH3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1001	CDH3	HP:0006482	Abnormal dental morphology	0/1	OMIM:601553
1001	CDH3	HP:0006482	Abnormal dental morphology	HP:0040281	ORPHA:1897
1001	CDH3	HP:0000365	Hearing impairment	10/67	OMIM:131300
1001	CDH3	HP:0000343	Long philtrum	1/7	OMIM:615777
1001	CDH3	HP:0011001	Increased bone mineral density	-	OMIM:131300
1001	CDH3	HP:0000311	Round face	2/7	OMIM:615777
1001	CDH3	HP:0002970	Genu varum	-	OMIM:615777
1001	CDH3	HP:0000303	Mandibular prognathia	-	OMIM:131300
1001	CDH3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1001	CDH3	HP:0000486	Strabismus	HP:0040283	ORPHA:1897
1001	CDH3	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:1897
1001	CDH3	HP:0000488	Retinopathy	HP:0040281	ORPHA:1897
1001	CDH3	HP:0410400	Absent sebaceous glands	1/1	OMIM:601553
1001	CDH3	HP:0000470	Short neck	1/7	OMIM:615777
1001	CDH3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1001	CDH3	HP:0001763	Pes planus	1/7	OMIM:615777
1001	CDH3	HP:0001760	Abnormal foot morphology	0/1	OMIM:601553
1001	CDH3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
1001	CDH3	HP:0001840	Metatarsus adductus	-	OMIM:615777
1001	CDH3	HP:0000520	Proptosis	2/4	OMIM:131300
1001	CDH3	HP:0000520	Proptosis	7/7	OMIM:615777
1001	CDH3	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1897
1001	CDH3	HP:0000575	Scotoma	5/18	OMIM:180100
1001	CDH3	HP:0000592	Blue sclerae	2/7	OMIM:615777
1001	CDH3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1001	CDH3	HP:0012514	Lower limb pain	4/4	OMIM:131300
1001	CDH3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
1001	CDH3	HP:0000545	Myopia	-	OMIM:180100
1009	CDH11	HP:0001156	Brachydactyly	HP:0040284	OMIM:211380
1009	CDH11	HP:0001159	Syndactyly	0/18	OMIM:619736
1009	CDH11	HP:0009907	Attached earlobe	HP:0040281	ORPHA:1299
1009	CDH11	HP:0010862	Delayed fine motor development	1/1	OMIM:211380
1009	CDH11	HP:0003764	Nevus	1/2	OMIM:211380
1009	CDH11	HP:0001256	Intellectual disability, mild	2/2	OMIM:211380
1009	CDH11	HP:0001250	Seizure	HP:0040283	ORPHA:1299
1009	CDH11	HP:0001249	Intellectual disability	1/1	OMIM:211380
1009	CDH11	HP:0001249	Intellectual disability	7/19	OMIM:619736
1009	CDH11	HP:0001263	Global developmental delay	2/2	OMIM:211380
1009	CDH11	HP:0001263	Global developmental delay	7/19	OMIM:619736
1009	CDH11	HP:0002561	Absent nipple	HP:0040284	ORPHA:1299
1009	CDH11	HP:0008689	Bilateral cryptorchidism	1/1	OMIM:211380
1009	CDH11	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:1299
1009	CDH11	HP:6000744	Premature glabellar skin wrinkling	2/2	OMIM:211380
1009	CDH11	HP:0000071	Ureteral stenosis	HP:0040283	ORPHA:1299
1009	CDH11	HP:0000042	Absent external genitalia	HP:0040284	ORPHA:1299
1009	CDH11	HP:0000054	Micropenis	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000048	Bifid scrotum	1/1	OMIM:211380
1009	CDH11	HP:0000047	Hypospadias	4/8	OMIM:619736
1009	CDH11	HP:0000047	Hypospadias	1/1	OMIM:211380
1009	CDH11	HP:0002684	Thickened calvaria	HP:0040281	ORPHA:1299
1009	CDH11	HP:0002679	Abnormal sella turcica morphology	HP:0040281	ORPHA:1299
1009	CDH11	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:1299
1009	CDH11	HP:0000007	Autosomal recessive inheritance	-	OMIM:211380
1009	CDH11	HP:0000006	Autosomal dominant inheritance	-	OMIM:619736
1009	CDH11	HP:0000179	Thick lower lip vermilion	-	OMIM:211380
1009	CDH11	HP:0000193	Bifid uvula	-	OMIM:211380
1009	CDH11	HP:0000193	Bifid uvula	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000176	Submucous cleft hard palate	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000175	Cleft palate	1/19	OMIM:619736
1009	CDH11	HP:0002714	Downturned corners of mouth	HP:0040281	ORPHA:1299
1009	CDH11	HP:0002025	Anal stenosis	HP:0040284	OMIM:211380
1009	CDH11	HP:0003319	Abnormality of the cervical spine	HP:0040282	ORPHA:1299
1009	CDH11	HP:0011800	Midface retrusion	-	OMIM:211380
1009	CDH11	HP:0004602	Cervical C2/C3 vertebral fusion	1/2	OMIM:211380
1009	CDH11	HP:0003423	Thoracolumbar kyphoscoliosis	HP:0040282	ORPHA:1299
1009	CDH11	HP:0011910	Shortening of all phalanges of fingers	1/1	OMIM:211380
1009	CDH11	HP:0010554	Cutaneous finger syndactyly	2/2	OMIM:211380
1009	CDH11	HP:0011823	Chin with horizontal crease	16/19	OMIM:619736
1009	CDH11	HP:0003577	Congenital onset	1/1	OMIM:211380
1009	CDH11	HP:0003577	Congenital onset	19/19	OMIM:619736
1009	CDH11	HP:0010724	Advanced pneumatization of the mastoid process	HP:0040281	ORPHA:1299
1009	CDH11	HP:0009748	Large earlobe	HP:0040281	ORPHA:1299
1009	CDH11	HP:0007018	Attention deficit hyperactivity disorder	2/19	OMIM:619736
1009	CDH11	HP:0020049	Exodeviation	1/2	OMIM:211380
1009	CDH11	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:1299
1009	CDH11	HP:0008516	Abnormality of the vertebral spinous processes	HP:0040281	ORPHA:1299
1009	CDH11	HP:0009818	Amelia involving the lower limbs	HP:0040284	ORPHA:1299
1009	CDH11	HP:0009814	Upper limb peromelia	HP:0040284	ORPHA:1299
1009	CDH11	HP:0010749	Blepharochalasis	HP:0040281	ORPHA:1299
1009	CDH11	HP:0009765	Low hanging columella	-	OMIM:211380
1009	CDH11	HP:0004209	Clinodactyly of the 5th finger	3/18	OMIM:619736
1009	CDH11	HP:0000636	Upper eyelid coloboma	2/19	OMIM:619736
1009	CDH11	HP:0000625	Eyelid coloboma	HP:0040283	ORPHA:1299
1009	CDH11	HP:0000607	Periorbital wrinkles	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000684	Delayed eruption of teeth	3/19	OMIM:619736
1009	CDH11	HP:0000684	Delayed eruption of teeth	1/1	OMIM:211380
1009	CDH11	HP:0000691	Microdontia	3/19	OMIM:619736
1009	CDH11	HP:0000689	Dental malocclusion	2/2	OMIM:211380
1009	CDH11	HP:0000670	Carious teeth	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000667	Phthisis bulbi	1/2	OMIM:211380
1009	CDH11	HP:0000664	Synophrys	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000664	Synophrys	2/3	OMIM:211380
1009	CDH11	HP:0000808	Penoscrotal hypospadias	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000808	Penoscrotal hypospadias	-	OMIM:211380
1009	CDH11	HP:0004378	Abnormality of the anus	1/1	OMIM:211380
1009	CDH11	HP:0000767	Pectus excavatum	-	OMIM:211380
1009	CDH11	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000729	Autistic behavior	2/19	OMIM:619736
1009	CDH11	HP:0012796	Increased cup-to-disc ratio	1/2	OMIM:211380
1009	CDH11	HP:0010299	Abnormal dentin morphology	HP:0040281	ORPHA:1299
1009	CDH11	HP:0003196	Short nose	15/19	OMIM:619736
1009	CDH11	HP:0100334	Unilateral cleft palate	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000289	Broad philtrum	2/2	OMIM:211380
1009	CDH11	HP:0000260	Wide anterior fontanel	10/19	OMIM:619736
1009	CDH11	HP:0000272	Malar flattening	2/3	OMIM:211380
1009	CDH11	HP:0001571	Multiple impacted teeth	2/2	OMIM:211380
1009	CDH11	HP:0000252	Microcephaly	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000248	Brachycephaly	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000248	Brachycephaly	-	OMIM:211380
1009	CDH11	HP:0000219	Thin upper lip vermilion	16/19	OMIM:619736
1009	CDH11	HP:0000219	Thin upper lip vermilion	1/1	OMIM:211380
1009	CDH11	HP:0000218	High palate	2/2	OMIM:211380
1009	CDH11	HP:0000218	High palate	12/19	OMIM:619736
1009	CDH11	HP:0001545	Anteriorly placed anus	HP:0040284	OMIM:211380
1009	CDH11	HP:0001545	Anteriorly placed anus	HP:0040284	ORPHA:1299
1009	CDH11	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:1299
1009	CDH11	HP:0000232	Everted lower lip vermilion	7/19	OMIM:619736
1009	CDH11	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1299
1009	CDH11	HP:0002836	Bladder exstrophy	HP:0040284	ORPHA:1299
1009	CDH11	HP:0011069	Supernumerary tooth	1/2	OMIM:211380
1009	CDH11	HP:0011072	Rootless teeth	HP:0040281	ORPHA:1299
1009	CDH11	HP:0011079	Impacted tooth	1/2	OMIM:211380
1009	CDH11	HP:0012368	Flat face	HP:0040281	ORPHA:1299
1009	CDH11	HP:0006480	Premature loss of teeth	HP:0040282	ORPHA:1299
1009	CDH11	HP:0006485	Agenesis of incisor	1/1	OMIM:211380
1009	CDH11	HP:0000365	Hearing impairment	3/19	OMIM:619736
1009	CDH11	HP:0000358	Posteriorly rotated ears	-	OMIM:211380
1009	CDH11	HP:0000369	Low-set ears	-	OMIM:211380
1009	CDH11	HP:0000341	Narrow forehead	-	OMIM:211380
1009	CDH11	HP:0000343	Long philtrum	-	OMIM:211380
1009	CDH11	HP:0000337	Broad forehead	1/2	OMIM:211380
1009	CDH11	HP:0000348	High forehead	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000316	Hypertelorism	3/3	OMIM:211380
1009	CDH11	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000316	Hypertelorism	19/19	OMIM:619736
1009	CDH11	HP:0000327	Hypoplasia of the maxilla	1/2	OMIM:211380
1009	CDH11	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000322	Short philtrum	HP:0040282	ORPHA:1299
1009	CDH11	HP:0000324	Facial asymmetry	HP:0040284	OMIM:211380
1009	CDH11	HP:0000309	Abnormal midface morphology	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000307	Pointed chin	1/1	OMIM:211380
1009	CDH11	HP:0000307	Pointed chin	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000303	Mandibular prognathia	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000303	Mandibular prognathia	12/12	OMIM:211380
1009	CDH11	HP:0006610	Wide intermamillary distance	1/1	OMIM:211380
1009	CDH11	HP:0005280	Depressed nasal bridge	13/19	OMIM:619736
1009	CDH11	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000486	Strabismus	1/2	OMIM:211380
1009	CDH11	HP:0000486	Strabismus	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000485	Megalocornea	1/2	OMIM:211380
1009	CDH11	HP:0000494	Downslanted palpebral fissures	-	OMIM:211380
1009	CDH11	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:1299
1009	CDH11	HP:0000463	Anteverted nares	1/1	OMIM:211380
1009	CDH11	HP:0000455	Broad nasal tip	18/19	OMIM:619736
1009	CDH11	HP:0000455	Broad nasal tip	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000456	Bifid nasal tip	1/2	OMIM:211380
1009	CDH11	HP:0000470	Short neck	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000445	Wide nose	2/2	OMIM:211380
1009	CDH11	HP:0000414	Bulbous nose	2/2	OMIM:211380
1009	CDH11	HP:0000410	Mixed hearing impairment	HP:0040282	ORPHA:1299
1009	CDH11	HP:0000431	Wide nasal bridge	1/1	OMIM:211380
1009	CDH11	HP:0000518	Cataract	1/2	OMIM:211380
1009	CDH11	HP:0000520	Proptosis	5/19	OMIM:619736
1009	CDH11	HP:0000520	Proptosis	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000520	Proptosis	1/1	OMIM:211380
1009	CDH11	HP:0000506	Telecanthus	HP:0040281	ORPHA:1299
1009	CDH11	HP:0000508	Ptosis	5/19	OMIM:619736
1009	CDH11	HP:0000501	Glaucoma	1/2	OMIM:211380
1009	CDH11	HP:0000574	Thick eyebrow	17/19	OMIM:619736
1009	CDH11	HP:0000574	Thick eyebrow	2/2	OMIM:211380
1013	CDH15	HP:0001250	Seizure	1/5	OMIM:612580
1013	CDH15	HP:0001249	Intellectual disability	5/5	OMIM:612580
1013	CDH15	HP:0000006	Autosomal dominant inheritance	-	OMIM:612580
1013	CDH15	HP:0000729	Autistic behavior	1/5	OMIM:612580
1019	CDK4	HP:0003764	Nevus	HP:0040281	ORPHA:618
1019	CDK4	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:99971
1019	CDK4	HP:0012056	Cutaneous melanoma	-	OMIM:609048
1019	CDK4	HP:0000006	Autosomal dominant inheritance	-	OMIM:609048
1019	CDK4	HP:0001480	Freckling	HP:0040282	ORPHA:618
1019	CDK4	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:99971
1019	CDK4	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:618
1019	CDK4	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:618
1019	CDK4	HP:0001054	Numerous nevi	-	OMIM:609048
1019	CDK4	HP:0001062	Atypical nevus	-	OMIM:609048
1019	CDK4	HP:0001074	Atypical nevi in non-sun exposed areas	-	OMIM:609048
1019	CDK4	HP:0100013	Neoplasm of the breast	HP:0040283	ORPHA:618
1019	CDK4	HP:0000958	Dry skin	HP:0040282	ORPHA:618
1019	CDK4	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:618
1019	CDK4	HP:0012211	Abnormal renal physiology	HP:0040283	ORPHA:99971
1019	CDK4	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:618
1019	CDK4	HP:0002861	Melanoma	HP:0040281	ORPHA:618
1019	CDK4	HP:0000488	Retinopathy	HP:0040283	ORPHA:618
1019	CDK4	HP:0006753	Neoplasm of the stomach	HP:0040283	ORPHA:618
1020	CDK5	HP:0001188	Hand clenching	10/10	OMIM:616342
1020	CDK5	HP:0010851	EEG with burst suppression	3/3	OMIM:616342
1020	CDK5	HP:0001274	Agenesis of corpus callosum	10/10	OMIM:616342
1020	CDK5	HP:0001284	Areflexia	10/10	OMIM:616342
1020	CDK5	HP:0001250	Seizure	10/10	OMIM:616342
1020	CDK5	HP:0001263	Global developmental delay	-	OMIM:616342
1020	CDK5	HP:0003811	Neonatal death	-	OMIM:616342
1020	CDK5	HP:0001339	Lissencephaly	10/10	OMIM:616342
1020	CDK5	HP:0000007	Autosomal recessive inheritance	-	OMIM:616342
1020	CDK5	HP:0001321	Cerebellar hypoplasia	10/10	OMIM:616342
1020	CDK5	HP:0002714	Downturned corners of mouth	10/10	OMIM:616342
1020	CDK5	HP:0002151	Increased circulating lactate concentration	0/10	OMIM:616342
1020	CDK5	HP:0011922	Abnormal activity of mitochondrial respiratory chain	0/10	OMIM:616342
1020	CDK5	HP:0003577	Congenital onset	10/10	OMIM:616342
1020	CDK5	HP:0001004	Lymphedema	10/10	OMIM:616342
1020	CDK5	HP:0001007	Hirsutism	10/10	OMIM:616342
1020	CDK5	HP:0031882	Agyria	10/10	OMIM:616342
1020	CDK5	HP:0000293	Full cheeks	10/10	OMIM:616342
1020	CDK5	HP:0000294	Low anterior hairline	10/10	OMIM:616342
1020	CDK5	HP:0002804	Arthrogryposis multiplex congenita	10/10	OMIM:616342
1020	CDK5	HP:0000252	Microcephaly	-	OMIM:616342
1020	CDK5	HP:0001522	Death in infancy	-	OMIM:616342
1020	CDK5	HP:0000350	Small forehead	10/10	OMIM:616342
1020	CDK5	HP:0000347	Micrognathia	10/10	OMIM:616342
1020	CDK5	HP:0032988	Persistent head lag	10/10	OMIM:616342
1020	CDK5	HP:0000470	Short neck	-	OMIM:616342
1021	CDK6	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
1021	CDK6	HP:0009879	Simplified gyral pattern	2/2	OMIM:616080
1021	CDK6	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
1021	CDK6	HP:0001256	Intellectual disability, mild	10/10	OMIM:616080
1021	CDK6	HP:0001250	Seizure	0/10	OMIM:616080
1021	CDK6	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
1021	CDK6	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
1021	CDK6	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
1021	CDK6	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
1021	CDK6	HP:0000007	Autosomal recessive inheritance	-	OMIM:616080
1021	CDK6	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
1021	CDK6	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
1021	CDK6	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
1021	CDK6	HP:0003577	Congenital onset	10/10	OMIM:616080
1021	CDK6	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
1021	CDK6	HP:0004322	Short stature	HP:0040281	ORPHA:2512
1021	CDK6	HP:0011451	Primary microcephaly	10/10	OMIM:616080
1021	CDK6	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
1021	CDK6	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
1021	CDK6	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
1021	CDK6	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
1021	CDK6	HP:0000340	Sloping forehead	10/10	OMIM:616080
1021	CDK6	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
1021	CDK6	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
1024	CDK8	HP:0001290	Generalized hypotonia	-	OMIM:618748
1024	CDK8	HP:0001274	Agenesis of corpus callosum	3/8	OMIM:618748
1024	CDK8	HP:0001270	Motor delay	-	OMIM:618748
1024	CDK8	HP:0001288	Gait disturbance	-	OMIM:618748
1024	CDK8	HP:0001250	Seizure	2/12	OMIM:618748
1024	CDK8	HP:0001249	Intellectual disability	11/11	OMIM:618748
1024	CDK8	HP:0002572	Episodic vomiting	2/12	OMIM:618748
1024	CDK8	HP:0000028	Cryptorchidism	1/7	OMIM:618748
1024	CDK8	HP:0008872	Feeding difficulties in infancy	-	OMIM:618748
1024	CDK8	HP:0000006	Autosomal dominant inheritance	-	OMIM:618748
1024	CDK8	HP:0004792	Rectoperineal fistula	1/12	OMIM:618748
1024	CDK8	HP:0007018	Attention deficit hyperactivity disorder	4/12	OMIM:618748
1024	CDK8	HP:0011330	Metopic synostosis	1/12	OMIM:618748
1024	CDK8	HP:0001999	Abnormal facial shape	11/12	OMIM:618748
1024	CDK8	HP:0004383	Hypoplastic left heart	1/12	OMIM:618748
1024	CDK8	HP:0000729	Autistic behavior	5/12	OMIM:618748
1024	CDK8	HP:0001545	Anteriorly placed anus	1/12	OMIM:618748
1024	CDK8	HP:0001680	Coarctation of aorta	1/12	OMIM:618748
1024	CDK8	HP:0001655	Patent foramen ovale	1/12	OMIM:618748
1024	CDK8	HP:0001629	Ventricular septal defect	3/12	OMIM:618748
1024	CDK8	HP:0001636	Tetralogy of Fallot	1/12	OMIM:618748
1024	CDK8	HP:0000407	Sensorineural hearing impairment	3/12	OMIM:618748
1024	CDK8	HP:0000486	Strabismus	4/12	OMIM:618748
1024	CDK8	HP:0000508	Ptosis	2/12	OMIM:618748
1024	CDK8	HP:0000505	Visual impairment	2/12	OMIM:618748
1024	CDK8	HP:0000545	Myopia	6/12	OMIM:618748
1026	CDKN1A	HP:0500167	Hypergastrinemia	HP:0040282	ORPHA:652
1026	CDKN1A	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0100829	Galactorrhea	HP:0040282	ORPHA:652
1026	CDKN1A	HP:0001289	Confusion	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0001254	Lethargy	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0002588	Duodenal ulcer	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0001259	Coma	HP:0040284	ORPHA:652
1026	CDKN1A	HP:0007449	Confetti-like hypopigmented macules	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0031058	Impairment of activities of daily living	HP:0040281	ORPHA:652
1026	CDKN1A	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0002666	Pheochromocytoma	HP:0040284	ORPHA:652
1026	CDKN1A	HP:0012197	Insulinoma	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0000169	Gingival fibromatosis	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0000141	Amenorrhea	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0002797	Osteolysis	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:652
1026	CDKN1A	HP:0002018	Nausea	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0002019	Constipation	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0002027	Abdominal pain	HP:0040282	ORPHA:652
1026	CDKN1A	HP:0040306	Decreased male libido	HP:0040282	ORPHA:652
1026	CDKN1A	HP:0002014	Diarrhea	HP:0040282	ORPHA:652
1026	CDKN1A	HP:0002013	Vomiting	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0100522	Thymoma	HP:0040284	ORPHA:652
1026	CDKN1A	HP:0002044	Zollinger-Ellison syndrome	HP:0040282	ORPHA:652
1026	CDKN1A	HP:0002039	Anorexia	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0011762	Pituitary thyrotropic cell adenoma	HP:0040284	ORPHA:652
1026	CDKN1A	HP:0011759	Pituitary gonadotropic cell adenoma	HP:0040284	ORPHA:652
1026	CDKN1A	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0011761	Pituitary null cell adenoma	HP:0040284	ORPHA:652
1026	CDKN1A	HP:0100570	Carcinoid tumor	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:652
1026	CDKN1A	HP:0008200	Primary hyperparathyroidism	HP:0040281	ORPHA:652
1026	CDKN1A	HP:0008208	Parathyroid hyperplasia	HP:0040281	ORPHA:652
1026	CDKN1A	HP:0008291	Pituitary corticotropic cell adenoma	HP:0040284	ORPHA:652
1026	CDKN1A	HP:0002249	Melena	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0002248	Hematemesis	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0003528	Elevated circulating calcitonin concentration	HP:0040284	ORPHA:652
1026	CDKN1A	HP:0032044	Decreased vigilance	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0010615	Angiofibromas	HP:0040281	ORPHA:652
1026	CDKN1A	HP:0001012	Multiple lipomas	HP:0040282	ORPHA:652
1026	CDKN1A	HP:0002315	Headache	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0001944	Dehydration	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0005605	Large cafe-au-lait macules with irregular margins	HP:0040282	ORPHA:652
1026	CDKN1A	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:652
1026	CDKN1A	HP:0000802	Impotence	HP:0040282	ORPHA:652
1026	CDKN1A	HP:0004398	Peptic ulcer	HP:0040282	ORPHA:652
1026	CDKN1A	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:652
1026	CDKN1A	HP:0011407	Proportionate tall stature	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0000736	Short attention span	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0000716	Depression	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0003118	Increased circulating cortisol level	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0003144	Increased serum serotonin	HP:0040284	ORPHA:652
1026	CDKN1A	HP:0000853	Goiter	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0000849	Adrenocortical abnormality	HP:0040282	ORPHA:652
1026	CDKN1A	HP:0000845	Elevated circulating growth hormone concentration	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0000822	Hypertension	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0040085	Abnormal circulating aldosterone concentration	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0012232	Shortened QT interval	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0001579	Primary hypercortisolism	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0002894	Neoplasm of the pancreas	HP:0040282	ORPHA:652
1026	CDKN1A	HP:0002893	Pituitary adenoma	HP:0040282	ORPHA:652
1026	CDKN1A	HP:0002890	Thyroid carcinoma	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0002888	Ependymoma	HP:0040284	ORPHA:652
1026	CDKN1A	HP:0002858	Meningioma	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0011151	Atypical absence status epilepticus	HP:0040284	ORPHA:652
1026	CDKN1A	HP:0006744	Adrenocortical carcinoma	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0030405	Pancreatic endocrine tumor	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0030404	Glucagonoma	HP:0040284	ORPHA:652
1026	CDKN1A	HP:0006723	Intestinal carcinoid	HP:0040283	ORPHA:652
1026	CDKN1A	HP:0030445	Pulmonary carcinoid tumor	HP:0040284	ORPHA:652
1026	CDKN1A	HP:0006780	Parathyroid carcinoma	HP:0040284	ORPHA:652
1026	CDKN1A	HP:0006767	Pituitary prolactin cell adenoma	HP:0040282	ORPHA:652
1026	CDKN1A	HP:0001824	Weight loss	HP:0040282	ORPHA:652
1027	CDKN1B	HP:0500167	Hypergastrinemia	HP:0040282	ORPHA:652
1027	CDKN1B	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0100829	Galactorrhea	HP:0040282	ORPHA:652
1027	CDKN1B	HP:0001289	Confusion	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0001254	Lethargy	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0002588	Duodenal ulcer	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0001259	Coma	HP:0040284	ORPHA:652
1027	CDKN1B	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0007449	Confetti-like hypopigmented macules	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0007449	Confetti-like hypopigmented macules	HP:0040283	ORPHA:276152
1027	CDKN1B	HP:0031058	Impairment of activities of daily living	HP:0040281	ORPHA:652
1027	CDKN1B	HP:0012030	Increased urinary cortisol level	HP:0040283	ORPHA:276152
1027	CDKN1B	HP:0012091	Abnormality of pancreas physiology	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:610755
1027	CDKN1B	HP:0002666	Pheochromocytoma	HP:0040284	ORPHA:652
1027	CDKN1B	HP:0012197	Insulinoma	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0012197	Insulinoma	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0000169	Gingival fibromatosis	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0000141	Amenorrhea	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0002797	Osteolysis	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:652
1027	CDKN1B	HP:0002018	Nausea	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0002019	Constipation	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0002027	Abdominal pain	HP:0040282	ORPHA:652
1027	CDKN1B	HP:0040306	Decreased male libido	HP:0040282	ORPHA:652
1027	CDKN1B	HP:0002014	Diarrhea	HP:0040282	ORPHA:652
1027	CDKN1B	HP:0002014	Diarrhea	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0002013	Vomiting	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0100522	Thymoma	HP:0040284	ORPHA:652
1027	CDKN1B	HP:0100522	Thymoma	HP:0040284	ORPHA:276152
1027	CDKN1B	HP:0002044	Zollinger-Ellison syndrome	HP:0040282	ORPHA:652
1027	CDKN1B	HP:0002044	Zollinger-Ellison syndrome	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0002039	Anorexia	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0011762	Pituitary thyrotropic cell adenoma	HP:0040284	ORPHA:652
1027	CDKN1B	HP:0011759	Pituitary gonadotropic cell adenoma	HP:0040284	ORPHA:652
1027	CDKN1B	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0011761	Pituitary null cell adenoma	HP:0040284	ORPHA:652
1027	CDKN1B	HP:0011761	Pituitary null cell adenoma	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0100570	Carcinoid tumor	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0100570	Carcinoid tumor	-	OMIM:610755
1027	CDKN1B	HP:0100570	Carcinoid tumor	HP:0040283	ORPHA:276152
1027	CDKN1B	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:652
1027	CDKN1B	HP:0008256	Adrenocortical adenoma	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0008200	Primary hyperparathyroidism	HP:0040281	ORPHA:652
1027	CDKN1B	HP:0008200	Primary hyperparathyroidism	1/1	OMIM:610755
1027	CDKN1B	HP:0008208	Parathyroid hyperplasia	HP:0040281	ORPHA:652
1027	CDKN1B	HP:0008208	Parathyroid hyperplasia	HP:0040281	ORPHA:276152
1027	CDKN1B	HP:0008291	Pituitary corticotropic cell adenoma	HP:0040284	ORPHA:652
1027	CDKN1B	HP:0008291	Pituitary corticotropic cell adenoma	HP:0040283	ORPHA:276152
1027	CDKN1B	HP:0008283	Fasting hyperinsulinemia	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0002249	Melena	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0002248	Hematemesis	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0003528	Elevated circulating calcitonin concentration	HP:0040284	ORPHA:652
1027	CDKN1B	HP:0032044	Decreased vigilance	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0010615	Angiofibromas	HP:0040281	ORPHA:652
1027	CDKN1B	HP:0010615	Angiofibromas	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0001031	Subcutaneous lipoma	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0001012	Multiple lipomas	HP:0040282	ORPHA:652
1027	CDKN1B	HP:0002315	Headache	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0100633	Esophagitis	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0100634	Neuroendocrine neoplasm	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0010783	Erythema	HP:0040283	ORPHA:276152
1027	CDKN1B	HP:0010788	Testicular neoplasm	HP:0040283	ORPHA:276152
1027	CDKN1B	HP:0001944	Dehydration	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0005605	Large cafe-au-lait macules with irregular margins	HP:0040282	ORPHA:652
1027	CDKN1B	HP:0030688	Increased glucagon level	HP:0040283	ORPHA:276152
1027	CDKN1B	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:652
1027	CDKN1B	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:276152
1027	CDKN1B	HP:0000802	Impotence	HP:0040282	ORPHA:652
1027	CDKN1B	HP:0004398	Peptic ulcer	HP:0040282	ORPHA:652
1027	CDKN1B	HP:0004398	Peptic ulcer	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:652
1027	CDKN1B	HP:0011407	Proportionate tall stature	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0000736	Short attention span	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0000716	Depression	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0030731	Carcinoma	-	OMIM:610755
1027	CDKN1B	HP:0003118	Increased circulating cortisol level	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0003118	Increased circulating cortisol level	HP:0040283	ORPHA:276152
1027	CDKN1B	HP:0003165	Elevated circulating parathyroid hormone level	HP:0040281	ORPHA:276152
1027	CDKN1B	HP:0003144	Increased serum serotonin	HP:0040284	ORPHA:652
1027	CDKN1B	HP:0000872	Hashimoto thyroiditis	1/1	OMIM:610755
1027	CDKN1B	HP:0000854	Thyroid adenoma	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0000853	Goiter	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0000849	Adrenocortical abnormality	HP:0040282	ORPHA:652
1027	CDKN1B	HP:0000843	Hyperparathyroidism	1/1	OMIM:610755
1027	CDKN1B	HP:0000843	Hyperparathyroidism	HP:0040281	ORPHA:276152
1027	CDKN1B	HP:0000845	Elevated circulating growth hormone concentration	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0000845	Elevated circulating growth hormone concentration	-	OMIM:610755
1027	CDKN1B	HP:0000845	Elevated circulating growth hormone concentration	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0000818	Abnormality of the endocrine system	HP:0040281	ORPHA:276152
1027	CDKN1B	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0000822	Hypertension	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0000821	Hypothyroidism	1/1	OMIM:610755
1027	CDKN1B	HP:0040085	Abnormal circulating aldosterone concentration	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0030079	Cervix cancer	HP:0040283	ORPHA:276152
1027	CDKN1B	HP:0012232	Shortened QT interval	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0002897	Parathyroid adenoma	1/1	OMIM:610755
1027	CDKN1B	HP:0002897	Parathyroid adenoma	HP:0040281	ORPHA:276152
1027	CDKN1B	HP:0001579	Primary hypercortisolism	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0002894	Neoplasm of the pancreas	HP:0040282	ORPHA:652
1027	CDKN1B	HP:0002893	Pituitary adenoma	HP:0040282	ORPHA:652
1027	CDKN1B	HP:0002893	Pituitary adenoma	-	OMIM:610755
1027	CDKN1B	HP:0002893	Pituitary adenoma	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0002890	Thyroid carcinoma	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0002888	Ependymoma	HP:0040284	ORPHA:652
1027	CDKN1B	HP:0002858	Meningioma	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0012334	Extrahepatic cholestasis	HP:0040283	ORPHA:276152
1027	CDKN1B	HP:0011151	Atypical absence status epilepticus	HP:0040284	ORPHA:652
1027	CDKN1B	HP:0006744	Adrenocortical carcinoma	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0030405	Pancreatic endocrine tumor	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0030405	Pancreatic endocrine tumor	1/1	OMIM:610755
1027	CDKN1B	HP:0030404	Glucagonoma	HP:0040284	ORPHA:652
1027	CDKN1B	HP:0006723	Intestinal carcinoid	HP:0040283	ORPHA:652
1027	CDKN1B	HP:0030445	Pulmonary carcinoid tumor	HP:0040284	ORPHA:652
1027	CDKN1B	HP:0030445	Pulmonary carcinoid tumor	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0006780	Parathyroid carcinoma	HP:0040284	ORPHA:652
1027	CDKN1B	HP:0006780	Parathyroid carcinoma	HP:0040283	ORPHA:276152
1027	CDKN1B	HP:0006772	Renal angiomyolipoma	-	OMIM:610755
1027	CDKN1B	HP:0006772	Renal angiomyolipoma	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0006767	Pituitary prolactin cell adenoma	HP:0040282	ORPHA:652
1027	CDKN1B	HP:0006767	Pituitary prolactin cell adenoma	HP:0040282	ORPHA:276152
1027	CDKN1B	HP:0001824	Weight loss	HP:0040282	ORPHA:652
1028	CDKN1C	HP:0001159	Syndactyly	HP:0040282	ORPHA:397590
1028	CDKN1C	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1028	CDKN1C	HP:0001293	Cranial nerve compression	-	OMIM:131300
1028	CDKN1C	HP:0001270	Motor delay	HP:0040282	ORPHA:397590
1028	CDKN1C	HP:0001252	Hypotonia	HP:0040281	ORPHA:85173
1028	CDKN1C	HP:0001252	Hypotonia	2/7	OMIM:615777
1028	CDKN1C	HP:0001249	Intellectual disability	5/7	OMIM:615777
1028	CDKN1C	HP:0001263	Global developmental delay	HP:0040283	OMIM:614732
1028	CDKN1C	HP:0001263	Global developmental delay	HP:0040283	ORPHA:397590
1028	CDKN1C	HP:0001263	Global developmental delay	-	OMIM:615777
1028	CDKN1C	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:436144
1028	CDKN1C	HP:0002515	Waddling gait	54/102	OMIM:131300
1028	CDKN1C	HP:0000076	Vesicoureteral reflux	-	OMIM:130650
1028	CDKN1C	HP:0000078	Abnormality of the genital system	HP:0040281	ORPHA:85173
1028	CDKN1C	HP:0000045	Abnormal scrotum morphology	HP:0040282	ORPHA:397590
1028	CDKN1C	HP:0000054	Micropenis	-	OMIM:614732
1028	CDKN1C	HP:0001382	Joint hypermobility	-	OMIM:615777
1028	CDKN1C	HP:0000048	Bifid scrotum	HP:0040283	ORPHA:397590
1028	CDKN1C	HP:0000047	Hypospadias	HP:0040281	ORPHA:85173
1028	CDKN1C	HP:0000047	Hypospadias	-	OMIM:614732
1028	CDKN1C	HP:0000047	Hypospadias	HP:0040282	ORPHA:397590
1028	CDKN1C	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:397590
1028	CDKN1C	HP:0001363	Craniosynostosis	3/11	OMIM:614732
1028	CDKN1C	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1028	CDKN1C	HP:0000028	Cryptorchidism	-	OMIM:614732
1028	CDKN1C	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:85173
1028	CDKN1C	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:397590
1028	CDKN1C	HP:0000028	Cryptorchidism	-	OMIM:130650
1028	CDKN1C	HP:0008897	Postnatal growth retardation	-	OMIM:614732
1028	CDKN1C	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:397590
1028	CDKN1C	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1028	CDKN1C	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:397590
1028	CDKN1C	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1028	CDKN1C	HP:0002656	Epiphyseal dysplasia	-	OMIM:614732
1028	CDKN1C	HP:0001324	Muscle weakness	40/96	OMIM:131300
1028	CDKN1C	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1028	CDKN1C	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1028	CDKN1C	HP:0002667	Nephroblastoma	-	OMIM:130650
1028	CDKN1C	HP:0000006	Autosomal dominant inheritance	-	OMIM:614732
1028	CDKN1C	HP:0000006	Autosomal dominant inheritance	-	OMIM:130650
1028	CDKN1C	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1028	CDKN1C	HP:0001305	Dandy-Walker malformation	HP:0040283	OMIM:130650
1028	CDKN1C	HP:0002650	Scoliosis	12/14	OMIM:131300
1028	CDKN1C	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1028	CDKN1C	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1028	CDKN1C	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1028	CDKN1C	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1028	CDKN1C	HP:0000158	Macroglossia	-	OMIM:130650
1028	CDKN1C	HP:0000175	Cleft palate	HP:0040282	ORPHA:397590
1028	CDKN1C	HP:0000175	Cleft palate	2/7	OMIM:615777
1028	CDKN1C	HP:0000135	Hypogonadism	HP:0040281	ORPHA:85173
1028	CDKN1C	HP:0000150	Gonadoblastoma	-	OMIM:130650
1028	CDKN1C	HP:0006277	Pancreatic hyperplasia	-	OMIM:130650
1028	CDKN1C	HP:0006266	Small placenta	HP:0040283	ORPHA:397590
1028	CDKN1C	HP:0000121	Nephrocalcinosis	-	OMIM:130650
1028	CDKN1C	HP:0000126	Hydronephrosis	HP:0040281	ORPHA:85173
1028	CDKN1C	HP:0000105	Enlarged kidney	-	OMIM:130650
1028	CDKN1C	HP:0002750	Delayed skeletal maturation	10/11	OMIM:614732
1028	CDKN1C	HP:0002007	Frontal bossing	HP:0040281	ORPHA:85173
1028	CDKN1C	HP:0002007	Frontal bossing	HP:0040283	ORPHA:397590
1028	CDKN1C	HP:0011800	Midface retrusion	-	OMIM:130650
1028	CDKN1C	HP:0002099	Asthma	HP:0040283	ORPHA:397590
1028	CDKN1C	HP:0100555	Asymmetric growth	HP:0040283	ORPHA:397590
1028	CDKN1C	HP:0003388	Easy fatigability	36/76	OMIM:131300
1028	CDKN1C	HP:0010442	Polydactyly	HP:0040283	ORPHA:397590
1028	CDKN1C	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1028	CDKN1C	HP:0008186	Adrenocortical cytomegaly	-	OMIM:130650
1028	CDKN1C	HP:0002150	Hypercalciuria	4/5	OMIM:614732
1028	CDKN1C	HP:0002240	Hepatomegaly	-	OMIM:130650
1028	CDKN1C	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:397590
1028	CDKN1C	HP:0003510	Severe short stature	7/7	OMIM:615777
1028	CDKN1C	HP:0001052	Nevus flammeus	-	OMIM:130650
1028	CDKN1C	HP:0002315	Headache	-	OMIM:131300
1028	CDKN1C	HP:0004976	Knee dislocation	6/7	OMIM:615777
1028	CDKN1C	HP:0008523	Posterior helix pit	-	OMIM:130650
1028	CDKN1C	HP:0100607	Dysmenorrhea	HP:0040283	ORPHA:397590
1028	CDKN1C	HP:0009803	Short phalanx of finger	-	OMIM:615777
1028	CDKN1C	HP:0032165	Placental mesenchymal dysplasia	-	OMIM:130650
1028	CDKN1C	HP:0009763	Limb pain	63/92	OMIM:131300
1028	CDKN1C	HP:0003621	Juvenile onset	-	OMIM:131300
1028	CDKN1C	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1028	CDKN1C	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:397590
1028	CDKN1C	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1028	CDKN1C	HP:6001056	Out-toeing	-	OMIM:131300
1028	CDKN1C	HP:0000651	Diplopia	-	OMIM:131300
1028	CDKN1C	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:397590
1028	CDKN1C	HP:0001956	Truncal obesity	2/7	OMIM:615777
1028	CDKN1C	HP:0001903	Anemia	HP:0040283	OMIM:131300
1028	CDKN1C	HP:0010049	Short metacarpal	-	OMIM:615777
1028	CDKN1C	HP:0000678	Dental crowding	-	OMIM:615777
1028	CDKN1C	HP:0000670	Carious teeth	-	OMIM:131300
1028	CDKN1C	HP:0011304	Broad thumb	2/7	OMIM:615777
1028	CDKN1C	HP:0000668	Hypodontia	-	OMIM:615777
1028	CDKN1C	HP:0001998	Neonatal hypoglycemia	-	OMIM:130650
1028	CDKN1C	HP:0000664	Synophrys	-	OMIM:615777
1028	CDKN1C	HP:0004322	Short stature	HP:0040281	ORPHA:436144
1028	CDKN1C	HP:0005616	Accelerated skeletal maturation	-	OMIM:130650
1028	CDKN1C	HP:0003072	Hypercalcemia	-	OMIM:614732
1028	CDKN1C	HP:0000803	Renal cortical cysts	-	OMIM:130650
1028	CDKN1C	HP:0004396	Poor appetite	-	OMIM:131300
1028	CDKN1C	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1028	CDKN1C	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1028	CDKN1C	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1028	CDKN1C	HP:0003026	Short long bone	7/7	OMIM:615777
1028	CDKN1C	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1028	CDKN1C	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1028	CDKN1C	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1028	CDKN1C	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1028	CDKN1C	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:397590
1028	CDKN1C	HP:0000750	Delayed speech and language development	-	OMIM:615777
1028	CDKN1C	HP:0011461	Fetal onset	7/7	OMIM:615777
1028	CDKN1C	HP:0000774	Narrow chest	2/7	OMIM:615777
1028	CDKN1C	HP:0000787	Nephrolithiasis	-	OMIM:130650
1028	CDKN1C	HP:0003196	Short nose	11/11	OMIM:614732
1028	CDKN1C	HP:0000926	Platyspondyly	1/7	OMIM:615777
1028	CDKN1C	HP:0003180	Flat acetabular roof	-	OMIM:615777
1028	CDKN1C	HP:0004482	Relative macrocephaly	HP:0040281	ORPHA:397590
1028	CDKN1C	HP:0004482	Relative macrocephaly	-	OMIM:615777
1028	CDKN1C	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1028	CDKN1C	HP:0000835	Adrenal hypoplasia	11/11	OMIM:614732
1028	CDKN1C	HP:0000835	Adrenal hypoplasia	HP:0040281	ORPHA:85173
1028	CDKN1C	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:397590
1028	CDKN1C	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:614732
1028	CDKN1C	HP:0000823	Delayed puberty	-	OMIM:131300
1028	CDKN1C	HP:0000894	Short clavicles	-	OMIM:615777
1028	CDKN1C	HP:0009237	Short 5th finger	HP:0040282	ORPHA:397590
1028	CDKN1C	HP:0003247	Overgrowth of external genitalia	-	OMIM:130650
1028	CDKN1C	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1028	CDKN1C	HP:0100255	Metaphyseal dysplasia	8/10	OMIM:614732
1028	CDKN1C	HP:0100255	Metaphyseal dysplasia	HP:0040281	ORPHA:85173
1028	CDKN1C	HP:0100257	Ectrodactyly	HP:0040283	ORPHA:397590
1028	CDKN1C	HP:0000957	Cafe-au-lait spot	HP:0040283	ORPHA:397590
1028	CDKN1C	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1028	CDKN1C	HP:0000938	Osteopenia	3/3	OMIM:614732
1028	CDKN1C	HP:0000286	Epicanthus	1/7	OMIM:615777
1028	CDKN1C	HP:0000280	Coarse facial features	-	OMIM:130650
1028	CDKN1C	HP:0000280	Coarse facial features	2/7	OMIM:615777
1028	CDKN1C	HP:0000256	Macrocephaly	HP:0040283	OMIM:614732
1028	CDKN1C	HP:0000269	Prominent occiput	-	OMIM:130650
1028	CDKN1C	HP:0002827	Hip dislocation	3/7	OMIM:615777
1028	CDKN1C	HP:0000239	Large fontanelles	-	OMIM:130650
1028	CDKN1C	HP:0000252	Microcephaly	-	OMIM:615777
1028	CDKN1C	HP:0002884	Hepatoblastoma	-	OMIM:130650
1028	CDKN1C	HP:0001548	Overgrowth	-	OMIM:130650
1028	CDKN1C	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:397590
1028	CDKN1C	HP:0001528	Hemihypertrophy	-	OMIM:130650
1028	CDKN1C	HP:0002857	Genu valgum	-	OMIM:131300
1028	CDKN1C	HP:0001540	Diastasis recti	-	OMIM:130650
1028	CDKN1C	HP:0001539	Omphalocele	-	OMIM:130650
1028	CDKN1C	HP:0001533	Slender build	-	OMIM:131300
1028	CDKN1C	HP:0001518	Small for gestational age	HP:0040281	ORPHA:397590
1028	CDKN1C	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:436144
1028	CDKN1C	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:85173
1028	CDKN1C	HP:0001511	Intrauterine growth retardation	11/11	OMIM:614732
1028	CDKN1C	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:397590
1028	CDKN1C	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1028	CDKN1C	HP:0007807	Optic nerve compression	-	OMIM:131300
1028	CDKN1C	HP:0012368	Flat face	7/7	OMIM:615777
1028	CDKN1C	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1028	CDKN1C	HP:0000365	Hearing impairment	10/67	OMIM:131300
1028	CDKN1C	HP:0000369	Low-set ears	-	OMIM:614732
1028	CDKN1C	HP:0000369	Low-set ears	HP:0040281	ORPHA:85173
1028	CDKN1C	HP:0000369	Low-set ears	HP:0040282	ORPHA:397590
1028	CDKN1C	HP:0000343	Long philtrum	1/7	OMIM:615777
1028	CDKN1C	HP:0011001	Increased bone mineral density	-	OMIM:131300
1028	CDKN1C	HP:0000347	Micrognathia	HP:0040281	ORPHA:397590
1028	CDKN1C	HP:0002983	Micromelia	HP:0040281	ORPHA:85173
1028	CDKN1C	HP:0000311	Round face	2/7	OMIM:615777
1028	CDKN1C	HP:0000325	Triangular face	HP:0040281	ORPHA:397590
1028	CDKN1C	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:397590
1028	CDKN1C	HP:0001640	Cardiomegaly	-	OMIM:130650
1028	CDKN1C	HP:0002970	Genu varum	-	OMIM:615777
1028	CDKN1C	HP:0001638	Cardiomyopathy	-	OMIM:130650
1028	CDKN1C	HP:0000303	Mandibular prognathia	-	OMIM:131300
1028	CDKN1C	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:85173
1028	CDKN1C	HP:0005280	Depressed nasal bridge	-	OMIM:614732
1028	CDKN1C	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1028	CDKN1C	HP:0000470	Short neck	1/7	OMIM:615777
1028	CDKN1C	HP:0030260	Microphallus	HP:0040283	ORPHA:397590
1028	CDKN1C	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1028	CDKN1C	HP:0001763	Pes planus	1/7	OMIM:615777
1028	CDKN1C	HP:0006744	Adrenocortical carcinoma	-	OMIM:130650
1028	CDKN1C	HP:0005487	Prominent metopic ridge	-	OMIM:130650
1028	CDKN1C	HP:0001840	Metatarsus adductus	-	OMIM:615777
1028	CDKN1C	HP:0000520	Proptosis	2/4	OMIM:131300
1028	CDKN1C	HP:0000520	Proptosis	-	OMIM:130650
1028	CDKN1C	HP:0000520	Proptosis	7/7	OMIM:615777
1028	CDKN1C	HP:0001804	Hypoplastic fingernail	HP:0040283	ORPHA:397590
1028	CDKN1C	HP:0000592	Blue sclerae	2/7	OMIM:615777
1028	CDKN1C	HP:0011220	Prominent forehead	11/11	OMIM:614732
1028	CDKN1C	HP:0011220	Prominent forehead	HP:0040281	ORPHA:397590
1028	CDKN1C	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1028	CDKN1C	HP:0012514	Lower limb pain	4/4	OMIM:131300
1029	CDKN2A	HP:0025134	Increased serum estradiol	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0003764	Nevus	HP:0040281	ORPHA:618
1029	CDKN2A	HP:0025269	Panic attack	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0007378	Neoplasm of the gastrointestinal tract	HP:0040283	ORPHA:524
1029	CDKN2A	HP:0000080	Abnormality of reproductive system physiology	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0025380	Increased circulating androstenedione concentration	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0012056	Cutaneous melanoma	-	OMIM:155755
1029	CDKN2A	HP:0012056	Cutaneous melanoma	-	OMIM:155601
1029	CDKN2A	HP:0012030	Increased urinary cortisol level	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0025318	Ovarian carcinoma	HP:0040283	ORPHA:1333
1029	CDKN2A	HP:0002664	Neoplasm	HP:0040281	ORPHA:524
1029	CDKN2A	HP:0001324	Muscle weakness	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0002669	Osteosarcoma	HP:0040283	ORPHA:524
1029	CDKN2A	HP:0002665	Lymphoma	HP:0040283	ORPHA:524
1029	CDKN2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:155755
1029	CDKN2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:606719
1029	CDKN2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:155601
1029	CDKN2A	HP:0012189	Hodgkin lymphoma	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0012182	Oropharyngeal squamous cell carcinoma	-	OMIM:606719
1029	CDKN2A	HP:0012174	Glioblastoma multiforme	HP:0040283	ORPHA:524
1029	CDKN2A	HP:0012142	Pancreatic squamous cell carcinoma	-	OMIM:606719
1029	CDKN2A	HP:0012125	Prostate cancer	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0012126	Stomach cancer	HP:0040283	ORPHA:524
1029	CDKN2A	HP:0025436	Elevated serum 11-deoxycortisol	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0001480	Freckling	HP:0040282	ORPHA:618
1029	CDKN2A	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:1333
1029	CDKN2A	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:1333
1029	CDKN2A	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:1333
1029	CDKN2A	HP:0002027	Abdominal pain	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0002027	Abdominal pain	HP:0040281	ORPHA:1333
1029	CDKN2A	HP:0100526	Neoplasm of the lung	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:618
1029	CDKN2A	HP:0002039	Anorexia	HP:0040281	ORPHA:1333
1029	CDKN2A	HP:0011748	Adrenocorticotropic hormone deficiency	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0100592	Peritoneal abscess	HP:0040283	ORPHA:1333
1029	CDKN2A	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0003418	Back pain	HP:0040281	ORPHA:1333
1029	CDKN2A	HP:0009592	Astrocytoma	-	OMIM:155755
1029	CDKN2A	HP:0009592	Astrocytoma	HP:0040283	ORPHA:524
1029	CDKN2A	HP:0002254	Intermittent diarrhea	HP:0040283	ORPHA:1333
1029	CDKN2A	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:618
1029	CDKN2A	HP:0100768	Choriocarcinoma	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0009726	Renal neoplasm	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0100743	Neoplasm of the rectum	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0001065	Striae distensae	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0100605	Neoplasm of the larynx	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0200063	Colorectal polyposis	HP:0040283	ORPHA:524
1029	CDKN2A	HP:0100615	Ovarian neoplasm	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0010788	Testicular neoplasm	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0001962	Palpitations	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0001909	Leukemia	HP:0040283	ORPHA:524
1029	CDKN2A	HP:0004324	Increased body weight	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:524
1029	CDKN2A	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:1333
1029	CDKN2A	HP:0003003	Colon cancer	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0003003	Colon cancer	HP:0040283	ORPHA:1333
1029	CDKN2A	HP:0004389	Intestinal pseudo-obstruction	HP:0040282	ORPHA:1333
1029	CDKN2A	HP:0004396	Poor appetite	HP:0040281	ORPHA:1333
1029	CDKN2A	HP:0100013	Neoplasm of the breast	HP:0040283	ORPHA:618
1029	CDKN2A	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:524
1029	CDKN2A	HP:0000737	Irritability	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0000739	Anxiety	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0003110	Abnormality of urine homeostasis	HP:0040283	ORPHA:1501
1029	CDKN2A	HP:0003118	Increased circulating cortisol level	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0000859	Increased circulating aldosterone concentration	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1333
1029	CDKN2A	HP:0000822	Hypertension	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0000998	Hypertrichosis	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0000958	Dry skin	HP:0040282	ORPHA:618
1029	CDKN2A	HP:0000952	Jaundice	HP:0040282	ORPHA:1333
1029	CDKN2A	HP:0100242	Sarcoma	-	OMIM:606719
1029	CDKN2A	HP:0012288	Neoplasm of head and neck	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:618
1029	CDKN2A	HP:0030070	Central primitive neuroectodermal tumor	HP:0040283	ORPHA:524
1029	CDKN2A	HP:0030078	Lung adenocarcinoma	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:1333
1029	CDKN2A	HP:0002894	Neoplasm of the pancreas	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:618
1029	CDKN2A	HP:0002890	Thyroid carcinoma	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0002888	Ependymoma	HP:0040283	ORPHA:524
1029	CDKN2A	HP:0002885	Medulloblastoma	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0002861	Melanoma	-	OMIM:606719
1029	CDKN2A	HP:0002861	Melanoma	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0002861	Melanoma	HP:0040283	ORPHA:1333
1029	CDKN2A	HP:0002861	Melanoma	HP:0040281	ORPHA:618
1029	CDKN2A	HP:0002860	Squamous cell carcinoma	-	OMIM:606719
1029	CDKN2A	HP:0002859	Rhabdomyosarcoma	HP:0040283	ORPHA:524
1029	CDKN2A	HP:0002863	Myelodysplasia	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0005249	Functional intestinal obstruction	HP:0040282	ORPHA:1333
1029	CDKN2A	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:1333
1029	CDKN2A	HP:0002900	Hypokalemia	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0012334	Extrahepatic cholestasis	HP:0040282	ORPHA:1333
1029	CDKN2A	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:1333
1029	CDKN2A	HP:0000488	Retinopathy	HP:0040283	ORPHA:618
1029	CDKN2A	HP:0012432	Chronic fatigue	HP:0040281	ORPHA:1333
1029	CDKN2A	HP:0006753	Neoplasm of the stomach	HP:0040283	ORPHA:618
1029	CDKN2A	HP:0006744	Adrenocortical carcinoma	HP:0040280	ORPHA:1501
1029	CDKN2A	HP:0006744	Adrenocortical carcinoma	HP:0040283	ORPHA:524
1029	CDKN2A	HP:0006725	Pancreatic adenocarcinoma	-	OMIM:606719
1029	CDKN2A	HP:0006725	Pancreatic adenocarcinoma	HP:0040280	ORPHA:1333
1029	CDKN2A	HP:0006721	Acute lymphoblastic leukemia	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0001824	Weight loss	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0001824	Weight loss	HP:0040281	ORPHA:1333
1029	CDKN2A	HP:0030348	Increased circulating androgen concentration	HP:0040282	ORPHA:1501
1029	CDKN2A	HP:0012539	Non-Hodgkin lymphoma	HP:0040284	ORPHA:524
1029	CDKN2A	HP:0030392	Choroid plexus carcinoma	HP:0040283	ORPHA:524
1030	CDKN2B	HP:0500167	Hypergastrinemia	HP:0040282	ORPHA:652
1030	CDKN2B	HP:0003764	Nevus	HP:0040281	ORPHA:618
1030	CDKN2B	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0100829	Galactorrhea	HP:0040282	ORPHA:652
1030	CDKN2B	HP:0001289	Confusion	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0001254	Lethargy	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0002588	Duodenal ulcer	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0001259	Coma	HP:0040284	ORPHA:652
1030	CDKN2B	HP:0007449	Confetti-like hypopigmented macules	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0031058	Impairment of activities of daily living	HP:0040281	ORPHA:652
1030	CDKN2B	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0002666	Pheochromocytoma	HP:0040284	ORPHA:652
1030	CDKN2B	HP:0012197	Insulinoma	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0000169	Gingival fibromatosis	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0000141	Amenorrhea	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0002797	Osteolysis	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0001480	Freckling	HP:0040282	ORPHA:618
1030	CDKN2B	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:652
1030	CDKN2B	HP:0002018	Nausea	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0002019	Constipation	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0002027	Abdominal pain	HP:0040282	ORPHA:652
1030	CDKN2B	HP:0040306	Decreased male libido	HP:0040282	ORPHA:652
1030	CDKN2B	HP:0002014	Diarrhea	HP:0040282	ORPHA:652
1030	CDKN2B	HP:0002013	Vomiting	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0100522	Thymoma	HP:0040284	ORPHA:652
1030	CDKN2B	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:618
1030	CDKN2B	HP:0002044	Zollinger-Ellison syndrome	HP:0040282	ORPHA:652
1030	CDKN2B	HP:0002039	Anorexia	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0011762	Pituitary thyrotropic cell adenoma	HP:0040284	ORPHA:652
1030	CDKN2B	HP:0011759	Pituitary gonadotropic cell adenoma	HP:0040284	ORPHA:652
1030	CDKN2B	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0011761	Pituitary null cell adenoma	HP:0040284	ORPHA:652
1030	CDKN2B	HP:0100570	Carcinoid tumor	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:652
1030	CDKN2B	HP:0008200	Primary hyperparathyroidism	HP:0040281	ORPHA:652
1030	CDKN2B	HP:0008208	Parathyroid hyperplasia	HP:0040281	ORPHA:652
1030	CDKN2B	HP:0008291	Pituitary corticotropic cell adenoma	HP:0040284	ORPHA:652
1030	CDKN2B	HP:0002249	Melena	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0002248	Hematemesis	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0003528	Elevated circulating calcitonin concentration	HP:0040284	ORPHA:652
1030	CDKN2B	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:618
1030	CDKN2B	HP:0032044	Decreased vigilance	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0010615	Angiofibromas	HP:0040281	ORPHA:652
1030	CDKN2B	HP:0001012	Multiple lipomas	HP:0040282	ORPHA:652
1030	CDKN2B	HP:0002315	Headache	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0001944	Dehydration	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0005605	Large cafe-au-lait macules with irregular margins	HP:0040282	ORPHA:652
1030	CDKN2B	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:652
1030	CDKN2B	HP:0000802	Impotence	HP:0040282	ORPHA:652
1030	CDKN2B	HP:0004398	Peptic ulcer	HP:0040282	ORPHA:652
1030	CDKN2B	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:652
1030	CDKN2B	HP:0100013	Neoplasm of the breast	HP:0040283	ORPHA:618
1030	CDKN2B	HP:0011407	Proportionate tall stature	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0000736	Short attention span	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0000716	Depression	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0003118	Increased circulating cortisol level	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0003144	Increased serum serotonin	HP:0040284	ORPHA:652
1030	CDKN2B	HP:0000853	Goiter	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0000849	Adrenocortical abnormality	HP:0040282	ORPHA:652
1030	CDKN2B	HP:0000845	Elevated circulating growth hormone concentration	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0000822	Hypertension	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0040085	Abnormal circulating aldosterone concentration	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0000958	Dry skin	HP:0040282	ORPHA:618
1030	CDKN2B	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:618
1030	CDKN2B	HP:0012232	Shortened QT interval	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0001579	Primary hypercortisolism	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0002894	Neoplasm of the pancreas	HP:0040282	ORPHA:652
1030	CDKN2B	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:618
1030	CDKN2B	HP:0002893	Pituitary adenoma	HP:0040282	ORPHA:652
1030	CDKN2B	HP:0002890	Thyroid carcinoma	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0002888	Ependymoma	HP:0040284	ORPHA:652
1030	CDKN2B	HP:0002861	Melanoma	HP:0040281	ORPHA:618
1030	CDKN2B	HP:0002858	Meningioma	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0011151	Atypical absence status epilepticus	HP:0040284	ORPHA:652
1030	CDKN2B	HP:0000488	Retinopathy	HP:0040283	ORPHA:618
1030	CDKN2B	HP:0006753	Neoplasm of the stomach	HP:0040283	ORPHA:618
1030	CDKN2B	HP:0006744	Adrenocortical carcinoma	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0030405	Pancreatic endocrine tumor	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0030404	Glucagonoma	HP:0040284	ORPHA:652
1030	CDKN2B	HP:0006723	Intestinal carcinoid	HP:0040283	ORPHA:652
1030	CDKN2B	HP:0030445	Pulmonary carcinoid tumor	HP:0040284	ORPHA:652
1030	CDKN2B	HP:0006780	Parathyroid carcinoma	HP:0040284	ORPHA:652
1030	CDKN2B	HP:0006767	Pituitary prolactin cell adenoma	HP:0040282	ORPHA:652
1030	CDKN2B	HP:0001824	Weight loss	HP:0040282	ORPHA:652
1031	CDKN2C	HP:0500167	Hypergastrinemia	HP:0040282	ORPHA:652
1031	CDKN2C	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0100829	Galactorrhea	HP:0040282	ORPHA:652
1031	CDKN2C	HP:0001289	Confusion	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0001254	Lethargy	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0002588	Duodenal ulcer	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0001259	Coma	HP:0040284	ORPHA:652
1031	CDKN2C	HP:0007449	Confetti-like hypopigmented macules	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0031058	Impairment of activities of daily living	HP:0040281	ORPHA:652
1031	CDKN2C	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0002666	Pheochromocytoma	HP:0040284	ORPHA:652
1031	CDKN2C	HP:0012197	Insulinoma	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0000169	Gingival fibromatosis	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0000141	Amenorrhea	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0002797	Osteolysis	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:652
1031	CDKN2C	HP:0002018	Nausea	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0002019	Constipation	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0002027	Abdominal pain	HP:0040282	ORPHA:652
1031	CDKN2C	HP:0040306	Decreased male libido	HP:0040282	ORPHA:652
1031	CDKN2C	HP:0002014	Diarrhea	HP:0040282	ORPHA:652
1031	CDKN2C	HP:0002013	Vomiting	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0100522	Thymoma	HP:0040284	ORPHA:652
1031	CDKN2C	HP:0002044	Zollinger-Ellison syndrome	HP:0040282	ORPHA:652
1031	CDKN2C	HP:0002039	Anorexia	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0011762	Pituitary thyrotropic cell adenoma	HP:0040284	ORPHA:652
1031	CDKN2C	HP:0011759	Pituitary gonadotropic cell adenoma	HP:0040284	ORPHA:652
1031	CDKN2C	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0011761	Pituitary null cell adenoma	HP:0040284	ORPHA:652
1031	CDKN2C	HP:0100570	Carcinoid tumor	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:652
1031	CDKN2C	HP:0008200	Primary hyperparathyroidism	HP:0040281	ORPHA:652
1031	CDKN2C	HP:0008208	Parathyroid hyperplasia	HP:0040281	ORPHA:652
1031	CDKN2C	HP:0008291	Pituitary corticotropic cell adenoma	HP:0040284	ORPHA:652
1031	CDKN2C	HP:0002249	Melena	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0002248	Hematemesis	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0003528	Elevated circulating calcitonin concentration	HP:0040284	ORPHA:652
1031	CDKN2C	HP:0032044	Decreased vigilance	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0010615	Angiofibromas	HP:0040281	ORPHA:652
1031	CDKN2C	HP:0001012	Multiple lipomas	HP:0040282	ORPHA:652
1031	CDKN2C	HP:0002315	Headache	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0001944	Dehydration	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0005605	Large cafe-au-lait macules with irregular margins	HP:0040282	ORPHA:652
1031	CDKN2C	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:652
1031	CDKN2C	HP:0000802	Impotence	HP:0040282	ORPHA:652
1031	CDKN2C	HP:0004398	Peptic ulcer	HP:0040282	ORPHA:652
1031	CDKN2C	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:652
1031	CDKN2C	HP:0011407	Proportionate tall stature	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0000736	Short attention span	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0000716	Depression	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0003118	Increased circulating cortisol level	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0003144	Increased serum serotonin	HP:0040284	ORPHA:652
1031	CDKN2C	HP:0000853	Goiter	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0000849	Adrenocortical abnormality	HP:0040282	ORPHA:652
1031	CDKN2C	HP:0000845	Elevated circulating growth hormone concentration	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0000822	Hypertension	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0040085	Abnormal circulating aldosterone concentration	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0012232	Shortened QT interval	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0001579	Primary hypercortisolism	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0002894	Neoplasm of the pancreas	HP:0040282	ORPHA:652
1031	CDKN2C	HP:0002893	Pituitary adenoma	HP:0040282	ORPHA:652
1031	CDKN2C	HP:0002890	Thyroid carcinoma	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0002888	Ependymoma	HP:0040284	ORPHA:652
1031	CDKN2C	HP:0002858	Meningioma	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0011151	Atypical absence status epilepticus	HP:0040284	ORPHA:652
1031	CDKN2C	HP:0006744	Adrenocortical carcinoma	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0030405	Pancreatic endocrine tumor	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0030404	Glucagonoma	HP:0040284	ORPHA:652
1031	CDKN2C	HP:0006723	Intestinal carcinoid	HP:0040283	ORPHA:652
1031	CDKN2C	HP:0030445	Pulmonary carcinoid tumor	HP:0040284	ORPHA:652
1031	CDKN2C	HP:0006780	Parathyroid carcinoma	HP:0040284	ORPHA:652
1031	CDKN2C	HP:0006767	Pituitary prolactin cell adenoma	HP:0040282	ORPHA:652
1031	CDKN2C	HP:0001824	Weight loss	HP:0040282	ORPHA:652
1041	CDSN	HP:0034838	Cleavage at junction of stratum corneum and stratum granulosum	-	OMIM:270300
1041	CDSN	HP:0007410	Palmoplantar hyperhidrosis	2/4	OMIM:270300
1041	CDSN	HP:0002550	Absent facial hair	-	ORPHA:90368
1041	CDSN	HP:0007550	Hypohidrosis or hyperhidrosis	-	ORPHA:90368
1041	CDSN	HP:0000007	Autosomal recessive inheritance	-	OMIM:270300
1041	CDSN	HP:0000006	Autosomal dominant inheritance	-	OMIM:146520
1041	CDSN	HP:0000164	Abnormality of the dentition	-	ORPHA:90368
1041	CDSN	HP:0000164	Abnormality of the dentition	0/34	OMIM:146520
1041	CDSN	HP:0002099	Asthma	1/4	OMIM:270300
1041	CDSN	HP:0002213	Fine hair	HP:0040281	ORPHA:90368
1041	CDSN	HP:0002209	Sparse scalp hair	34/34	OMIM:146520
1041	CDSN	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:90368
1041	CDSN	HP:0008404	Nail dystrophy	1/4	OMIM:270300
1041	CDSN	HP:0002299	Brittle hair	2/4	OMIM:270300
1041	CDSN	HP:0002293	Alopecia of scalp	HP:0040282	ORPHA:90368
1041	CDSN	HP:0001036	Parakeratosis	HP:0040282	ORPHA:90368
1041	CDSN	HP:0001047	Atopic dermatitis	HP:0040283	ORPHA:90368
1041	CDSN	HP:0001019	Erythroderma	4/4	OMIM:270300
1041	CDSN	HP:0025092	Epidermal acanthosis	HP:0040282	ORPHA:90368
1041	CDSN	HP:0003623	Neonatal onset	4/4	OMIM:270300
1041	CDSN	HP:0003621	Juvenile onset	34/34	OMIM:146520
1041	CDSN	HP:0100134	Abnormality of the axillary hair	-	ORPHA:90368
1041	CDSN	HP:0100133	Abnormality of the pubic hair	-	ORPHA:90368
1041	CDSN	HP:0004322	Short stature	0/4	OMIM:270300
1041	CDSN	HP:0100038	Slow-growing scalp hair	HP:0040281	ORPHA:90368
1041	CDSN	HP:0003193	Allergic rhinitis	HP:0040283	ORPHA:90368
1041	CDSN	HP:0003212	Increased circulating IgE concentration	HP:0040283	ORPHA:90368
1041	CDSN	HP:0003212	Increased circulating IgE concentration	2/2	OMIM:270300
1041	CDSN	HP:0004528	Generalized hypotrichosis	-	ORPHA:90368
1041	CDSN	HP:0000989	Pruritus	HP:0040283	ORPHA:90368
1041	CDSN	HP:0000989	Pruritus	4/4	OMIM:270300
1041	CDSN	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:90368
1041	CDSN	HP:0040189	Scaling skin	HP:0040283	ORPHA:90368
1041	CDSN	HP:0040189	Scaling skin	4/4	OMIM:270300
1041	CDSN	HP:0001597	Abnormal nail morphology	-	ORPHA:90368
1041	CDSN	HP:0001597	Abnormal nail morphology	0/34	OMIM:146520
1041	CDSN	HP:0000499	Abnormal eyelash morphology	-	ORPHA:90368
1041	CDSN	HP:0001806	Onycholysis	1/4	OMIM:270300
1041	CDSN	HP:0000534	Abnormal eyebrow morphology	-	ORPHA:90368
1041	CDSN	HP:0001880	Increased total eosinophil count	2/2	OMIM:270300
1050	CEBPA	HP:0000006	Autosomal dominant inheritance	-	OMIM:601626
1050	CEBPA	HP:0001442	Typified by somatic mosaicism	-	OMIM:601626
1050	CEBPA	HP:0004808	Acute myeloid leukemia	-	OMIM:601626
1053	CEBPE	HP:0000007	Autosomal recessive inheritance	-	OMIM:260570
1053	CEBPE	HP:0000007	Autosomal recessive inheritance	-	OMIM:245480
1053	CEBPE	HP:0002718	Recurrent bacterial infections	11/11	OMIM:245480
1053	CEBPE	HP:0002722	Recurrent abscess formation	3/3	OMIM:260570
1053	CEBPE	HP:0002027	Abdominal pain	3/3	OMIM:260570
1053	CEBPE	HP:0003593	Infantile onset	1/1	OMIM:245480
1053	CEBPE	HP:0011993	Impaired neutrophil bactericidal activity	11/11	OMIM:245480
1053	CEBPE	HP:0011991	Abnormal total neutrophil count	0/1	OMIM:245480
1053	CEBPE	HP:0003621	Juvenile onset	1/3	OMIM:260570
1053	CEBPE	HP:0001954	Recurrent fever	3/3	OMIM:260570
1053	CEBPE	HP:0011447	Hyposegmentation of neutrophil nuclei	1/1	OMIM:245480
1053	CEBPE	HP:0011447	Hyposegmentation of neutrophil nuclei	3/3	OMIM:260570
1053	CEBPE	HP:0040238	Impaired neutrophil chemotaxis	1/1	OMIM:245480
1053	CEBPE	HP:0040238	Impaired neutrophil chemotaxis	3/3	OMIM:260570
1053	CEBPE	HP:0006532	Recurrent pneumonia	1/1	OMIM:245480
1053	CEBPE	HP:0000403	Recurrent otitis media	1/1	OMIM:245480
1053	CEBPE	HP:0011107	Recurrent aphthous stomatitis	3/3	OMIM:260570
1053	CEBPE	HP:0025708	Early young adult onset	2/3	OMIM:260570
1053	CEBPE	HP:0000421	Epistaxis	3/3	OMIM:260570
1053	CEBPE	HP:0001818	Paronychia	3/3	OMIM:260570
1053	CEBPE	HP:0012551	Absent neutrophil specific granules	2/2	OMIM:245480
1053	CEBPE	HP:0041042	Absent neutrophil lactoferrin	-	OMIM:245480
1053	CEBPE	HP:0041043	Neutrophil nuclear clefts	-	OMIM:245480
1053	CEBPE	HP:0041046	Increased neutrophil ribosomes	-	OMIM:245480
1053	CEBPE	HP:0041044	Low neutrophil alkaline phosphatase	1/1	OMIM:245480
1053	CEBPE	HP:0041045	Increased neutrophil mitochondria	-	OMIM:245480
1056	CEL	HP:0002594	Pancreatic hypoplasia	HP:0040284	ORPHA:552
1056	CEL	HP:0000077	Abnormality of the kidney	HP:0040284	ORPHA:552
1056	CEL	HP:0012028	Hepatocellular adenoma	HP:0040284	ORPHA:552
1056	CEL	HP:0000006	Autosomal dominant inheritance	-	OMIM:609812
1056	CEL	HP:0000119	Abnormality of the genitourinary system	HP:0040284	ORPHA:552
1056	CEL	HP:0000112	Nephropathy	HP:0040283	ORPHA:552
1056	CEL	HP:0000107	Renal cyst	HP:0040284	ORPHA:552
1056	CEL	HP:0002027	Abdominal pain	-	OMIM:609812
1056	CEL	HP:0008255	Transient neonatal diabetes mellitus	HP:0040283	ORPHA:552
1056	CEL	HP:0004924	Abnormal oral glucose tolerance	HP:0040282	ORPHA:552
1056	CEL	HP:0004904	Maturity-onset diabetes of the young	-	OMIM:609812
1056	CEL	HP:0001953	Diabetic ketoacidosis	-	ORPHA:552
1056	CEL	HP:0001952	Glucose intolerance	HP:0040282	ORPHA:552
1056	CEL	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:552
1056	CEL	HP:0003076	Glycosuria	HP:0040282	ORPHA:552
1056	CEL	HP:0003074	Hyperglycemia	HP:0040282	ORPHA:552
1056	CEL	HP:0003074	Hyperglycemia	-	OMIM:609812
1056	CEL	HP:0011462	Young adult onset	-	OMIM:609812
1056	CEL	HP:0030794	Abnormal circulating C-peptide concentration	HP:0040282	ORPHA:552
1056	CEL	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040283	ORPHA:552
1056	CEL	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040283	ORPHA:552
1056	CEL	HP:0040214	Abnormal circulating insulin concentration	HP:0040282	ORPHA:552
1056	CEL	HP:0040217	Elevated hemoglobin A1c	HP:0040282	ORPHA:552
1056	CEL	HP:0040217	Elevated hemoglobin A1c	-	OMIM:609812
1056	CEL	HP:0040216	Hypoinsulinemia	HP:0040282	ORPHA:552
1056	CEL	HP:0000956	Acanthosis nigricans	-	ORPHA:552
1056	CEL	HP:0030057	Autoimmune antibody positivity	-	ORPHA:552
1056	CEL	HP:0025502	Overweight	HP:0040283	ORPHA:552
1056	CEL	HP:0001520	Large for gestational age	HP:0040283	ORPHA:552
1056	CEL	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:552
1056	CEL	HP:0001513	Obesity	HP:0040284	ORPHA:552
1056	CEL	HP:0001738	Exocrine pancreatic insufficiency	HP:0040284	ORPHA:552
1056	CEL	HP:0001738	Exocrine pancreatic insufficiency	-	OMIM:609812
1056	CEL	HP:0000488	Retinopathy	HP:0040283	ORPHA:552
1062	CENPE	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
1062	CENPE	HP:0009879	Simplified gyral pattern	1/2	OMIM:616051
1062	CENPE	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1062	CENPE	HP:0001293	Cranial nerve compression	-	OMIM:131300
1062	CENPE	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
1062	CENPE	HP:0001252	Hypotonia	2/7	OMIM:615777
1062	CENPE	HP:0001249	Intellectual disability	HP:0040281	ORPHA:808
1062	CENPE	HP:0001249	Intellectual disability	5/7	OMIM:615777
1062	CENPE	HP:0001263	Global developmental delay	2/2	OMIM:616051
1062	CENPE	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
1062	CENPE	HP:0001263	Global developmental delay	-	OMIM:615777
1062	CENPE	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
1062	CENPE	HP:0002515	Waddling gait	54/102	OMIM:131300
1062	CENPE	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
1062	CENPE	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:808
1062	CENPE	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:808
1062	CENPE	HP:0001382	Joint hypermobility	-	OMIM:615777
1062	CENPE	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
1062	CENPE	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:808
1062	CENPE	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1062	CENPE	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1062	CENPE	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:808
1062	CENPE	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1062	CENPE	HP:0001324	Muscle weakness	40/96	OMIM:131300
1062	CENPE	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1062	CENPE	HP:0001338	Partial agenesis of the corpus callosum	1/2	OMIM:616051
1062	CENPE	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1062	CENPE	HP:0000007	Autosomal recessive inheritance	-	OMIM:616051
1062	CENPE	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1062	CENPE	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
1062	CENPE	HP:0002650	Scoliosis	HP:0040283	ORPHA:808
1062	CENPE	HP:0002650	Scoliosis	12/14	OMIM:131300
1062	CENPE	HP:0001321	Cerebellar hypoplasia	1/2	OMIM:616051
1062	CENPE	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1062	CENPE	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1062	CENPE	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1062	CENPE	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1062	CENPE	HP:0000175	Cleft palate	2/7	OMIM:615777
1062	CENPE	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
1062	CENPE	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:808
1062	CENPE	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:808
1062	CENPE	HP:0003388	Easy fatigability	36/76	OMIM:131300
1062	CENPE	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1062	CENPE	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
1062	CENPE	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:808
1062	CENPE	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:808
1062	CENPE	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
1062	CENPE	HP:0003510	Severe short stature	7/7	OMIM:615777
1062	CENPE	HP:0004979	Metaphyseal sclerosis	1/2	OMIM:616051
1062	CENPE	HP:0002315	Headache	-	OMIM:131300
1062	CENPE	HP:0004976	Knee dislocation	6/7	OMIM:615777
1062	CENPE	HP:0009804	Tooth agenesis	HP:0040282	ORPHA:808
1062	CENPE	HP:0009803	Short phalanx of finger	-	OMIM:615777
1062	CENPE	HP:0200055	Small hand	2/2	OMIM:616051
1062	CENPE	HP:0009763	Limb pain	63/92	OMIM:131300
1062	CENPE	HP:0003621	Juvenile onset	-	OMIM:131300
1062	CENPE	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1062	CENPE	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:808
1062	CENPE	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1062	CENPE	HP:0000639	Nystagmus	1/2	OMIM:616051
1062	CENPE	HP:6001056	Out-toeing	-	OMIM:131300
1062	CENPE	HP:0000651	Diplopia	-	OMIM:131300
1062	CENPE	HP:0001956	Truncal obesity	2/7	OMIM:615777
1062	CENPE	HP:0001903	Anemia	HP:0040283	OMIM:131300
1062	CENPE	HP:0010049	Short metacarpal	-	OMIM:615777
1062	CENPE	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:808
1062	CENPE	HP:0011342	Mild global developmental delay	HP:0040281	ORPHA:808
1062	CENPE	HP:0000678	Dental crowding	-	OMIM:615777
1062	CENPE	HP:0000670	Carious teeth	-	OMIM:131300
1062	CENPE	HP:0011304	Broad thumb	2/7	OMIM:615777
1062	CENPE	HP:0000668	Hypodontia	-	OMIM:615777
1062	CENPE	HP:0000664	Synophrys	-	OMIM:615777
1062	CENPE	HP:0004322	Short stature	HP:0040281	ORPHA:808
1062	CENPE	HP:0004322	Short stature	2/2	OMIM:616051
1062	CENPE	HP:0004322	Short stature	HP:0040281	ORPHA:2512
1062	CENPE	HP:0004326	Cachexia	HP:0040281	ORPHA:808
1062	CENPE	HP:0004396	Poor appetite	-	OMIM:131300
1062	CENPE	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1062	CENPE	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1062	CENPE	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1062	CENPE	HP:0003026	Short long bone	7/7	OMIM:615777
1062	CENPE	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1062	CENPE	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1062	CENPE	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1062	CENPE	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1062	CENPE	HP:0000750	Delayed speech and language development	-	OMIM:615777
1062	CENPE	HP:0011461	Fetal onset	2/2	OMIM:616051
1062	CENPE	HP:0011461	Fetal onset	7/7	OMIM:615777
1062	CENPE	HP:0011451	Primary microcephaly	1/1	OMIM:616051
1062	CENPE	HP:0000774	Narrow chest	2/7	OMIM:615777
1062	CENPE	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
1062	CENPE	HP:0000926	Platyspondyly	1/7	OMIM:615777
1062	CENPE	HP:0003180	Flat acetabular roof	-	OMIM:615777
1062	CENPE	HP:0004482	Relative macrocephaly	-	OMIM:615777
1062	CENPE	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1062	CENPE	HP:0000823	Delayed puberty	-	OMIM:131300
1062	CENPE	HP:0000894	Short clavicles	-	OMIM:615777
1062	CENPE	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1062	CENPE	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1062	CENPE	HP:0000286	Epicanthus	1/7	OMIM:615777
1062	CENPE	HP:0000280	Coarse facial features	2/7	OMIM:615777
1062	CENPE	HP:0000275	Narrow face	HP:0040281	ORPHA:808
1062	CENPE	HP:0002827	Hip dislocation	3/7	OMIM:615777
1062	CENPE	HP:0000252	Microcephaly	HP:0040281	ORPHA:808
1062	CENPE	HP:0000252	Microcephaly	2/2	OMIM:616051
1062	CENPE	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
1062	CENPE	HP:0000252	Microcephaly	-	OMIM:615777
1062	CENPE	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
1062	CENPE	HP:0002857	Genu valgum	-	OMIM:131300
1062	CENPE	HP:0001533	Slender build	-	OMIM:131300
1062	CENPE	HP:0001518	Small for gestational age	2/2	OMIM:616051
1062	CENPE	HP:0001511	Intrauterine growth retardation	2/2	OMIM:616051
1062	CENPE	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:808
1062	CENPE	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1062	CENPE	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
1062	CENPE	HP:0007807	Optic nerve compression	-	OMIM:131300
1062	CENPE	HP:0000387	Absent earlobe	HP:0040282	ORPHA:808
1062	CENPE	HP:0012368	Flat face	7/7	OMIM:615777
1062	CENPE	HP:0001607	Subglottic stenosis	1/2	OMIM:616051
1062	CENPE	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1062	CENPE	HP:0000363	Abnormal earlobe morphology	HP:0040282	ORPHA:808
1062	CENPE	HP:0000365	Hearing impairment	10/67	OMIM:131300
1062	CENPE	HP:0000340	Sloping forehead	2/2	OMIM:616051
1062	CENPE	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
1062	CENPE	HP:0000343	Long philtrum	1/7	OMIM:615777
1062	CENPE	HP:0011001	Increased bone mineral density	-	OMIM:131300
1062	CENPE	HP:0032792	Tonic seizure	1/2	OMIM:616051
1062	CENPE	HP:0000347	Micrognathia	HP:0040281	ORPHA:808
1062	CENPE	HP:0000347	Micrognathia	1/2	OMIM:616051
1062	CENPE	HP:0000311	Round face	1/2	OMIM:616051
1062	CENPE	HP:0000311	Round face	2/7	OMIM:615777
1062	CENPE	HP:0002970	Genu varum	-	OMIM:615777
1062	CENPE	HP:0000303	Mandibular prognathia	-	OMIM:131300
1062	CENPE	HP:0001723	Restrictive cardiomyopathy	1/2	OMIM:616051
1062	CENPE	HP:0000400	Macrotia	1/2	OMIM:616051
1062	CENPE	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1062	CENPE	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:808
1062	CENPE	HP:0000470	Short neck	1/7	OMIM:615777
1062	CENPE	HP:0001773	Short foot	2/2	OMIM:616051
1062	CENPE	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1062	CENPE	HP:0001763	Pes planus	1/7	OMIM:615777
1062	CENPE	HP:0000448	Prominent nose	1/2	OMIM:616051
1062	CENPE	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:808
1062	CENPE	HP:0001840	Metatarsus adductus	-	OMIM:615777
1062	CENPE	HP:0001852	Sandal gap	HP:0040281	ORPHA:808
1062	CENPE	HP:0000520	Proptosis	2/4	OMIM:131300
1062	CENPE	HP:0000520	Proptosis	7/7	OMIM:615777
1062	CENPE	HP:0000501	Glaucoma	HP:0040282	ORPHA:808
1062	CENPE	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
1062	CENPE	HP:0000592	Blue sclerae	2/7	OMIM:615777
1062	CENPE	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1062	CENPE	HP:0012514	Lower limb pain	4/4	OMIM:131300
1063	CENPF	HP:0001274	Agenesis of corpus callosum	-	OMIM:243605
1063	CENPF	HP:0002566	Intestinal malrotation	-	OMIM:243605
1063	CENPF	HP:0003826	Stillbirth	-	OMIM:243605
1063	CENPF	HP:0000007	Autosomal recessive inheritance	-	OMIM:243605
1063	CENPF	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:243605
1063	CENPF	HP:0001321	Cerebellar hypoplasia	-	OMIM:243605
1063	CENPF	HP:0000175	Cleft palate	-	OMIM:243605
1063	CENPF	HP:0000154	Wide mouth	-	OMIM:243605
1063	CENPF	HP:0000126	Hydronephrosis	-	OMIM:243605
1063	CENPF	HP:0002000	Short columella	-	OMIM:243605
1063	CENPF	HP:0003577	Congenital onset	-	OMIM:243605
1063	CENPF	HP:0002247	Duodenal atresia	-	OMIM:243605
1063	CENPF	HP:0000647	Sclerocornea	-	OMIM:243605
1063	CENPF	HP:0000612	Iris coloboma	-	OMIM:243605
1063	CENPF	HP:0000609	Optic nerve hypoplasia	-	OMIM:243605
1063	CENPF	HP:0000659	Peters anomaly	-	OMIM:243605
1063	CENPF	HP:0003198	Myopathy	-	OMIM:243605
1063	CENPF	HP:0012841	Retinal vascular tortuosity	-	OMIM:243605
1063	CENPF	HP:0100258	Preaxial polydactyly	HP:0040284	OMIM:243605
1063	CENPF	HP:0000238	Hydrocephalus	-	OMIM:243605
1063	CENPF	HP:0000252	Microcephaly	-	OMIM:243605
1063	CENPF	HP:0005235	Jejunal atresia	-	OMIM:243605
1063	CENPF	HP:0000369	Low-set ears	-	OMIM:243605
1063	CENPF	HP:0000347	Micrognathia	-	OMIM:243605
1063	CENPF	HP:0000316	Hypertelorism	-	OMIM:243605
1063	CENPF	HP:0000482	Microcornea	-	OMIM:243605
1063	CENPF	HP:0000490	Deeply set eye	-	OMIM:243605
1063	CENPF	HP:0001747	Accessory spleen	HP:0040284	OMIM:243605
1063	CENPF	HP:0000431	Wide nasal bridge	-	OMIM:243605
1063	CENPF	HP:0000426	Prominent nasal bridge	-	OMIM:243605
1063	CENPF	HP:0000518	Cataract	-	OMIM:243605
1063	CENPF	HP:0012584	Bilateral renal hypoplasia	-	OMIM:243605
1063	CENPF	HP:0000568	Microphthalmia	-	OMIM:243605
1066	CES1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618057
1066	CES1	HP:0020169	Abnormal drug response	-	OMIM:618057
1071	CETP	HP:0000006	Autosomal dominant inheritance	-	OMIM:143470
1071	CETP	HP:0012184	Increased HDL cholesterol concentration	-	OMIM:143470
1073	CFL2	HP:0003789	Minicore myopathy	2/2	OMIM:610687
1073	CFL2	HP:0003798	Nemaline bodies	3/4	OMIM:610687
1073	CFL2	HP:0003798	Nemaline bodies	HP:0040283	ORPHA:171436
1073	CFL2	HP:0020203	Z-band streaming	1/1	OMIM:610687
1073	CFL2	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:171436
1073	CFL2	HP:0001270	Motor delay	1/1	OMIM:610687
1073	CFL2	HP:0001288	Gait disturbance	-	OMIM:610687
1073	CFL2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:171436
1073	CFL2	HP:0001284	Areflexia	1/2	OMIM:610687
1073	CFL2	HP:0001252	Hypotonia	1/2	OMIM:610687
1073	CFL2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:171436
1073	CFL2	HP:0007340	Lower limb muscle weakness	2/2	OMIM:610687
1073	CFL2	HP:0002515	Waddling gait	HP:0040283	ORPHA:171436
1073	CFL2	HP:0002515	Waddling gait	1/2	OMIM:610687
1073	CFL2	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171436
1073	CFL2	HP:0003803	Type 1 muscle fiber predominance	2/2	OMIM:610687
1073	CFL2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:171436
1073	CFL2	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171436
1073	CFL2	HP:0001324	Muscle weakness	2/2	OMIM:610687
1073	CFL2	HP:0000007	Autosomal recessive inheritance	-	OMIM:610687
1073	CFL2	HP:0002650	Scoliosis	HP:0040283	ORPHA:171436
1073	CFL2	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:171436
1073	CFL2	HP:0002751	Kyphoscoliosis	1/2	OMIM:610687
1073	CFL2	HP:0002747	Respiratory insufficiency due to muscle weakness	1/2	OMIM:610687
1073	CFL2	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:171436
1073	CFL2	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:171436
1073	CFL2	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:171436
1073	CFL2	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:171436
1073	CFL2	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:171436
1073	CFL2	HP:0003391	Gowers sign	2/2	OMIM:610687
1073	CFL2	HP:0003484	Upper limb muscle weakness	2/2	OMIM:610687
1073	CFL2	HP:0002194	Delayed gross motor development	4/4	OMIM:610687
1073	CFL2	HP:0010546	Muscle fibrillation	1/2	OMIM:610687
1073	CFL2	HP:0003577	Congenital onset	2/2	OMIM:610687
1073	CFL2	HP:0003547	Shoulder girdle muscle weakness	2/2	OMIM:610687
1073	CFL2	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:171436
1073	CFL2	HP:0003557	Increased variability in muscle fiber diameter	2/2	OMIM:610687
1073	CFL2	HP:0034671	Knee contracture	1/2	OMIM:610687
1073	CFL2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:171436
1073	CFL2	HP:0010628	Facial palsy	HP:0040282	ORPHA:171436
1073	CFL2	HP:0003690	Limb muscle weakness	2/2	OMIM:610687
1073	CFL2	HP:0002359	Frequent falls	2/2	OMIM:610687
1073	CFL2	HP:0002375	Hypokinesia	HP:0040283	ORPHA:171436
1073	CFL2	HP:0003687	Centrally nucleated skeletal muscle fibers	2/2	OMIM:610687
1073	CFL2	HP:0003677	Slowly progressive	-	OMIM:610687
1073	CFL2	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:171436
1073	CFL2	HP:0031936	Delayed ability to walk	2/2	OMIM:610687
1073	CFL2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:171436
1073	CFL2	HP:0011463	Childhood onset	2/2	OMIM:610687
1073	CFL2	HP:0000774	Narrow chest	HP:0040283	ORPHA:171436
1073	CFL2	HP:0003198	Myopathy	HP:0040283	ORPHA:171436
1073	CFL2	HP:0003236	Elevated circulating creatine kinase concentration	0/2	OMIM:610687
1073	CFL2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:171436
1073	CFL2	HP:0010300	Abnormally low-pitched voice	1/2	OMIM:610687
1073	CFL2	HP:0100297	Increased endomysial connective tissue	1/2	OMIM:610687
1073	CFL2	HP:0000275	Narrow face	HP:0040283	ORPHA:171436
1073	CFL2	HP:0002816	Genu recurvatum	1/2	OMIM:610687
1073	CFL2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:171436
1073	CFL2	HP:0002808	Kyphosis	HP:0040284	ORPHA:171436
1073	CFL2	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:171436
1073	CFL2	HP:0000218	High palate	1/2	OMIM:610687
1073	CFL2	HP:0000218	High palate	HP:0040282	ORPHA:171436
1073	CFL2	HP:0002877	Nocturnal hypoventilation	HP:0040283	ORPHA:171436
1073	CFL2	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:171436
1073	CFL2	HP:0002857	Genu valgum	HP:0040283	ORPHA:171436
1073	CFL2	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040283	ORPHA:171436
1073	CFL2	HP:0002938	Lumbar hyperlordosis	1/2	OMIM:610687
1073	CFL2	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040283	ORPHA:171436
1073	CFL2	HP:0030198	Fatigable weakness of distal limb muscles	HP:0040282	ORPHA:171436
1073	CFL2	HP:0000347	Micrognathia	HP:0040283	ORPHA:171436
1073	CFL2	HP:0001623	Breech presentation	1/2	OMIM:610687
1073	CFL2	HP:0002970	Genu varum	HP:0040283	ORPHA:171436
1073	CFL2	HP:0030319	Weakness of facial musculature	1/2	OMIM:610687
1073	CFL2	HP:0000470	Short neck	HP:0040283	ORPHA:171436
1073	CFL2	HP:0000467	Neck muscle weakness	2/2	OMIM:610687
1073	CFL2	HP:0001763	Pes planus	1/2	OMIM:610687
1073	CFL2	HP:0000508	Ptosis	HP:0040283	ORPHA:171436
1073	CFL2	HP:0012548	Fatty replacement of skeletal muscle	1/2	OMIM:610687
1075	CTSC	HP:0001166	Arachnodactyly	-	OMIM:245010
1075	CTSC	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:678
1075	CTSC	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:2342
1075	CTSC	HP:0001288	Gait disturbance	HP:0040283	ORPHA:2342
1075	CTSC	HP:0100838	Recurrent cutaneous abscess formation	HP:0040282	ORPHA:678
1075	CTSC	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:678
1075	CTSC	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:678
1075	CTSC	HP:0006224	Tapering pointed ends of distal finger phalanges	-	OMIM:245010
1075	CTSC	HP:0007545	Congenital palmoplantar hyperkeratosis	-	OMIM:245010
1075	CTSC	HP:0000007	Autosomal recessive inheritance	-	OMIM:170650
1075	CTSC	HP:0000007	Autosomal recessive inheritance	-	OMIM:245010
1075	CTSC	HP:0000007	Autosomal recessive inheritance	-	OMIM:245000
1075	CTSC	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:678
1075	CTSC	HP:0000166	Severe periodontitis	4/4	OMIM:170650
1075	CTSC	HP:0000166	Severe periodontitis	-	OMIM:245010
1075	CTSC	HP:0000166	Severe periodontitis	-	OMIM:245000
1075	CTSC	HP:0000166	Severe periodontitis	HP:0040281	ORPHA:678
1075	CTSC	HP:0002797	Osteolysis	HP:0040283	ORPHA:678
1075	CTSC	HP:0006323	Premature loss of primary teeth	HP:0040283	ORPHA:2342
1075	CTSC	HP:0006323	Premature loss of primary teeth	HP:0040281	ORPHA:678
1075	CTSC	HP:0006308	Atrophy of alveolar ridges	-	OMIM:245000
1075	CTSC	HP:0006308	Atrophy of alveolar ridges	HP:0040281	ORPHA:678
1075	CTSC	HP:0410027	Alveolar bone loss around teeth	HP:0040283	ORPHA:2342
1075	CTSC	HP:0100523	Liver abscess	HP:0040283	ORPHA:678
1075	CTSC	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:678
1075	CTSC	HP:0002231	Sparse body hair	HP:0040283	ORPHA:678
1075	CTSC	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:678
1075	CTSC	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:678
1075	CTSC	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:678
1075	CTSC	HP:0009804	Tooth agenesis	HP:0040281	ORPHA:678
1075	CTSC	HP:0001073	Cigarette-paper scars	HP:0040283	ORPHA:678
1075	CTSC	HP:0200039	Pustule	HP:0040281	ORPHA:678
1075	CTSC	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:245010
1075	CTSC	HP:0009771	Osteolytic defects of the phalanges of the hand	HP:0040282	ORPHA:2342
1075	CTSC	HP:0000670	Carious teeth	HP:0040282	ORPHA:2342
1075	CTSC	HP:0006960	Choroid plexus calcification	-	OMIM:245000
1075	CTSC	HP:0000704	Periodontitis	HP:0040281	ORPHA:2342
1075	CTSC	HP:0000704	Periodontitis	HP:0040281	ORPHA:678
1075	CTSC	HP:0012785	Flexion contracture of finger	HP:0040283	ORPHA:2342
1075	CTSC	HP:0005830	Flexion contracture of toe	HP:0040283	ORPHA:2342
1075	CTSC	HP:0030816	Gingival recession	-	OMIM:170650
1075	CTSC	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:678
1075	CTSC	HP:0000972	Palmoplantar hyperkeratosis	0/4	OMIM:170650
1075	CTSC	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:245000
1075	CTSC	HP:0000972	Palmoplantar hyperkeratosis	HP:0040282	ORPHA:2342
1075	CTSC	HP:0000972	Palmoplantar hyperkeratosis	HP:0040281	ORPHA:678
1075	CTSC	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:678
1075	CTSC	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:2342
1075	CTSC	HP:0000958	Dry skin	HP:0040283	ORPHA:2342
1075	CTSC	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:678
1075	CTSC	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:678
1075	CTSC	HP:0001581	Recurrent skin infections	HP:0040283	ORPHA:2342
1075	CTSC	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:678
1075	CTSC	HP:0000230	Gingivitis	HP:0040281	ORPHA:678
1075	CTSC	HP:0002861	Melanoma	HP:0040283	ORPHA:678
1075	CTSC	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:678
1075	CTSC	HP:0006480	Premature loss of teeth	-	OMIM:170650
1075	CTSC	HP:0006480	Premature loss of teeth	-	OMIM:245000
1075	CTSC	HP:0011132	Chronic furunculosis	HP:0040282	ORPHA:678
1075	CTSC	HP:0001763	Pes planus	HP:0040282	ORPHA:2342
1075	CTSC	HP:0001763	Pes planus	-	OMIM:245010
1075	CTSC	HP:0005406	Recurrent bacterial skin infections	-	OMIM:245010
1075	CTSC	HP:0001805	Onychogryphosis	-	OMIM:245010
1075	CTSC	HP:0001805	Onychogryphosis	HP:0040282	ORPHA:2342
1075	CTSC	HP:0001803	Nail pits	HP:0040283	ORPHA:2342
1075	CTSC	HP:0001870	Acroosteolysis of distal phalanges (feet)	HP:0040282	ORPHA:2342
1080	CFTR	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
1080	CFTR	HP:0100812	Halitosis	HP:0040283	ORPHA:60033
1080	CFTR	HP:0002595	Ileus	3/71	OMIM:219700
1080	CFTR	HP:0002570	Steatorrhea	-	OMIM:167800
1080	CFTR	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
1080	CFTR	HP:0002570	Steatorrhea	3/21	OMIM:219700
1080	CFTR	HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers	HP:0040282	ORPHA:498359
1080	CFTR	HP:0007410	Palmoplantar hyperhidrosis	HP:0040282	ORPHA:498359
1080	CFTR	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
1080	CFTR	HP:0032359	Decreased forced expiratory flow 25-75%	15/21	OMIM:219700
1080	CFTR	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
1080	CFTR	HP:0001217	Clubbing	HP:0040284	ORPHA:60033
1080	CFTR	HP:6000725	Salty tasting skin	21/49	OMIM:219700
1080	CFTR	HP:0032341	Reduced forced vital capacity	5/21	OMIM:219700
1080	CFTR	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
1080	CFTR	HP:0032342	Reduced forced expiratory volume in one second	26/39	OMIM:219700
1080	CFTR	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
1080	CFTR	HP:0001394	Cirrhosis	2/71	OMIM:219700
1080	CFTR	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
1080	CFTR	HP:0000027	Azoospermia	-	OMIM:277180
1080	CFTR	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
1080	CFTR	HP:0012092	Abnormality of exocrine pancreas physiology	0/2	OMIM:211400
1080	CFTR	HP:0000007	Autosomal recessive inheritance	-	OMIM:219700
1080	CFTR	HP:0000007	Autosomal recessive inheritance	-	OMIM:277180
1080	CFTR	HP:0000006	Autosomal dominant inheritance	-	OMIM:167800
1080	CFTR	HP:0000006	Autosomal dominant inheritance	-	OMIM:211400
1080	CFTR	HP:0002613	Biliary cirrhosis	-	OMIM:219700
1080	CFTR	HP:0031289	White papule	HP:0040282	ORPHA:498359
1080	CFTR	HP:0006261	Abnormal phalangeal joint morphology of the hand	HP:0040283	ORPHA:498359
1080	CFTR	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:48
1080	CFTR	HP:0002783	Recurrent lower respiratory tract infections	HP:0040282	ORPHA:60033
1080	CFTR	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
1080	CFTR	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
1080	CFTR	HP:0002795	Abnormal respiratory system physiology	HP:0040281	ORPHA:60033
1080	CFTR	HP:0001433	Hepatosplenomegaly	2/71	OMIM:219700
1080	CFTR	HP:0031245	Productive cough	HP:0040281	ORPHA:60033
1080	CFTR	HP:0031248	Palmar pruritus	HP:0040282	ORPHA:498359
1080	CFTR	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
1080	CFTR	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
1080	CFTR	HP:0002725	Systemic lupus erythematosus	HP:0040283	ORPHA:498359
1080	CFTR	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
1080	CFTR	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
1080	CFTR	HP:0002035	Rectal prolapse	-	OMIM:219700
1080	CFTR	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
1080	CFTR	HP:0002027	Abdominal pain	-	OMIM:167800
1080	CFTR	HP:0002014	Diarrhea	15/71	OMIM:219700
1080	CFTR	HP:0002099	Asthma	-	OMIM:219700
1080	CFTR	HP:0002099	Asthma	HP:0040283	ORPHA:586
1080	CFTR	HP:6000100	Hyperpolarized transepithelial nasal potential difference	-	OMIM:219700
1080	CFTR	HP:0002097	Emphysema	HP:0040283	ORPHA:60033
1080	CFTR	HP:0002094	Dyspnea	HP:0040282	ORPHA:60033
1080	CFTR	HP:0100582	Nasal polyposis	1/21	OMIM:219700
1080	CFTR	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
1080	CFTR	HP:0002150	Hypercalciuria	-	OMIM:219700
1080	CFTR	HP:0002110	Bronchiectasis	-	OMIM:211400
1080	CFTR	HP:0002110	Bronchiectasis	106/111	OMIM:219700
1080	CFTR	HP:0002110	Bronchiectasis	HP:0040280	ORPHA:60033
1080	CFTR	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
1080	CFTR	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
1080	CFTR	HP:0002105	Hemoptysis	HP:0040282	ORPHA:60033
1080	CFTR	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
1080	CFTR	HP:0002105	Hemoptysis	3/21	OMIM:219700
1080	CFTR	HP:0003593	Infantile onset	6/7	OMIM:219700
1080	CFTR	HP:0002240	Hepatomegaly	1/71	OMIM:219700
1080	CFTR	HP:0002202	Pleural effusion	-	OMIM:167800
1080	CFTR	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
1080	CFTR	HP:0100749	Chest pain	HP:0040282	ORPHA:60033
1080	CFTR	HP:0100759	Clubbing of fingers	9/21	OMIM:219700
1080	CFTR	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
1080	CFTR	HP:0011962	Obstructive azoospermia	HP:0040281	ORPHA:48
1080	CFTR	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
1080	CFTR	HP:0011947	Respiratory tract infection	HP:0040281	ORPHA:60033
1080	CFTR	HP:0011949	Acute infectious pneumonia	HP:0040283	ORPHA:60033
1080	CFTR	HP:0001047	Atopic dermatitis	HP:0040283	ORPHA:498359
1080	CFTR	HP:0200035	Skin plaque	HP:0040283	ORPHA:498359
1080	CFTR	HP:0025080	Orthokeratotic hyperkeratosis	HP:0040282	ORPHA:498359
1080	CFTR	HP:0430121	Seminal vesicle agenesis	HP:0040282	ORPHA:48
1080	CFTR	HP:0001977	Abnormal thrombosis	-	OMIM:167800
1080	CFTR	HP:0001944	Dehydration	HP:0040283	OMIM:219700
1080	CFTR	HP:0001945	Fever	HP:0040283	ORPHA:60033
1080	CFTR	HP:0001945	Fever	-	OMIM:167800
1080	CFTR	HP:0004326	Cachexia	HP:0040283	ORPHA:60033
1080	CFTR	HP:0000739	Anxiety	HP:0040283	ORPHA:586
1080	CFTR	HP:0000716	Depression	HP:0040283	ORPHA:586
1080	CFTR	HP:0011463	Childhood onset	1/7	OMIM:219700
1080	CFTR	HP:0000798	Oligozoospermia	HP:0040283	ORPHA:48
1080	CFTR	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
1080	CFTR	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
1080	CFTR	HP:0004401	Meconium ileus	-	OMIM:219700
1080	CFTR	HP:0004469	Chronic bronchitis	-	OMIM:211400
1080	CFTR	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
1080	CFTR	HP:0000819	Diabetes mellitus	-	OMIM:167800
1080	CFTR	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:48
1080	CFTR	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
1080	CFTR	HP:0012873	Absent vas deferens	-	OMIM:277180
1080	CFTR	HP:0030877	Reduced FEV1/FVC ratio	HP:0040282	ORPHA:60033
1080	CFTR	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
1080	CFTR	HP:0030828	Wheezing	HP:0040282	ORPHA:60033
1080	CFTR	HP:0030830	Crackles	HP:0040282	ORPHA:60033
1080	CFTR	HP:0003251	Male infertility	-	OMIM:219700
1080	CFTR	HP:0003251	Male infertility	HP:0040282	ORPHA:586
1080	CFTR	HP:0003251	Male infertility	-	OMIM:277180
1080	CFTR	HP:0003251	Male infertility	HP:0040281	ORPHA:48
1080	CFTR	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:498359
1080	CFTR	HP:0000969	Edema	HP:0040283	ORPHA:498359
1080	CFTR	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
1080	CFTR	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
1080	CFTR	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
1080	CFTR	HP:0012236	Elevated sweat chloride	HP:0040283	OMIM:211400
1080	CFTR	HP:0012236	Elevated sweat chloride	77/77	OMIM:219700
1080	CFTR	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
1080	CFTR	HP:0012210	Abnormal renal morphology	HP:0040283	ORPHA:48
1080	CFTR	HP:0001508	Failure to thrive	8/21	OMIM:219700
1080	CFTR	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
1080	CFTR	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
1080	CFTR	HP:0005213	Pancreatic calcification	-	OMIM:167800
1080	CFTR	HP:0005206	Pancreatic pseudocyst	-	OMIM:167800
1080	CFTR	HP:0006538	Recurrent bronchopulmonary infections	-	OMIM:219700
1080	CFTR	HP:0006528	Chronic lung disease	-	OMIM:219700
1080	CFTR	HP:0006532	Recurrent pneumonia	8/21	OMIM:219700
1080	CFTR	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
1080	CFTR	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
1080	CFTR	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
1080	CFTR	HP:0001648	Cor pulmonale	1/7	OMIM:219700
1080	CFTR	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:60033
1080	CFTR	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
1080	CFTR	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040282	ORPHA:60033
1080	CFTR	HP:0001738	Exocrine pancreatic insufficiency	11/27	OMIM:219700
1080	CFTR	HP:0001738	Exocrine pancreatic insufficiency	-	OMIM:167800
1080	CFTR	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
1080	CFTR	HP:0001733	Pancreatitis	-	OMIM:167800
1080	CFTR	HP:0001733	Pancreatitis	2/21	OMIM:219700
1080	CFTR	HP:0011109	Chronic sinusitis	59/112	OMIM:219700
1080	CFTR	HP:0005425	Recurrent sinopulmonary infections	HP:0040283	ORPHA:498359
1084	CEACAM3	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
1084	CEACAM3	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
1084	CEACAM3	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
1084	CEACAM3	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
1084	CEACAM3	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
1084	CEACAM3	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
1084	CEACAM3	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
1084	CEACAM3	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
1084	CEACAM3	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
1084	CEACAM3	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
1084	CEACAM3	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
1084	CEACAM3	HP:0002099	Asthma	HP:0040283	ORPHA:586
1084	CEACAM3	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
1084	CEACAM3	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
1084	CEACAM3	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
1084	CEACAM3	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
1084	CEACAM3	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
1084	CEACAM3	HP:0000739	Anxiety	HP:0040283	ORPHA:586
1084	CEACAM3	HP:0000716	Depression	HP:0040283	ORPHA:586
1084	CEACAM3	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
1084	CEACAM3	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
1084	CEACAM3	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
1084	CEACAM3	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
1084	CEACAM3	HP:0003251	Male infertility	HP:0040282	ORPHA:586
1084	CEACAM3	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
1084	CEACAM3	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
1084	CEACAM3	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
1084	CEACAM3	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
1084	CEACAM3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
1084	CEACAM3	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
1084	CEACAM3	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
1084	CEACAM3	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
1084	CEACAM3	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
1084	CEACAM3	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
1084	CEACAM3	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
1103	CHAT	HP:0002421	Poor head control	HP:0040283	ORPHA:98914
1103	CHAT	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:98914
1103	CHAT	HP:0001270	Motor delay	HP:0040283	ORPHA:98914
1103	CHAT	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98914
1103	CHAT	HP:0001283	Bulbar palsy	5/5	OMIM:254210
1103	CHAT	HP:0001283	Bulbar palsy	HP:0040282	ORPHA:98914
1103	CHAT	HP:0001284	Areflexia	HP:0040283	ORPHA:98914
1103	CHAT	HP:0001250	Seizure	HP:0040283	ORPHA:98914
1103	CHAT	HP:0001252	Hypotonia	HP:0040283	ORPHA:98914
1103	CHAT	HP:0001251	Ataxia	HP:0040282	ORPHA:98914
1103	CHAT	HP:0001249	Intellectual disability	HP:0040282	ORPHA:98914
1103	CHAT	HP:0001265	Hyporeflexia	HP:0040284	ORPHA:98914
1103	CHAT	HP:0002515	Waddling gait	HP:0040283	ORPHA:98914
1103	CHAT	HP:0001374	Congenital hip dislocation	HP:0040284	ORPHA:98914
1103	CHAT	HP:0001382	Joint hypermobility	HP:0040284	ORPHA:98914
1103	CHAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:254210
1103	CHAT	HP:0025401	Staring gaze	HP:0040284	ORPHA:98914
1103	CHAT	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:98914
1103	CHAT	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:254210
1103	CHAT	HP:0002020	Gastroesophageal reflux	HP:0040284	ORPHA:98914
1103	CHAT	HP:0002033	Poor suck	-	OMIM:254210
1103	CHAT	HP:0002033	Poor suck	HP:0040281	ORPHA:98914
1103	CHAT	HP:0004661	Frontalis muscle weakness	HP:0040281	ORPHA:98914
1103	CHAT	HP:0003325	Limb-girdle muscle weakness	HP:0040283	ORPHA:98914
1103	CHAT	HP:0002015	Dysphagia	-	OMIM:254210
1103	CHAT	HP:0002015	Dysphagia	HP:0040281	ORPHA:98914
1103	CHAT	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:98914
1103	CHAT	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:98914
1103	CHAT	HP:0005943	Respiratory arrest	HP:0040284	ORPHA:98914
1103	CHAT	HP:0002098	Respiratory distress	-	OMIM:254210
1103	CHAT	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	-	OMIM:254210
1103	CHAT	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98914
1103	CHAT	HP:0003473	Fatigable weakness	5/5	OMIM:254210
1103	CHAT	HP:0003473	Fatigable weakness	HP:0040281	ORPHA:98914
1103	CHAT	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:98914
1103	CHAT	HP:0003402	Decreased miniature endplate potentials	2/2	OMIM:254210
1103	CHAT	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	-	OMIM:254210
1103	CHAT	HP:0010536	Central sleep apnea	HP:0040282	ORPHA:98914
1103	CHAT	HP:0003577	Congenital onset	20/20	OMIM:254210
1103	CHAT	HP:0003554	Type 2 muscle fiber atrophy	-	OMIM:254210
1103	CHAT	HP:0004885	Episodic respiratory distress	HP:0040282	ORPHA:98914
1103	CHAT	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0040281	ORPHA:98914
1103	CHAT	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:98914
1103	CHAT	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:98914
1103	CHAT	HP:0002392	EEG with polyspike wave complexes	HP:0040284	ORPHA:98914
1103	CHAT	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:98914
1103	CHAT	HP:0008443	Neuropathic spinal arthropathy	HP:0040282	ORPHA:98914
1103	CHAT	HP:0003623	Neonatal onset	-	OMIM:254210
1103	CHAT	HP:0007178	Motor polyneuropathy	HP:0040284	ORPHA:98914
1103	CHAT	HP:0000639	Nystagmus	HP:0040284	ORPHA:98914
1103	CHAT	HP:0000651	Diplopia	HP:0040284	ORPHA:98914
1103	CHAT	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:98914
1103	CHAT	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:98914
1103	CHAT	HP:0000768	Pectus carinatum	HP:0040284	ORPHA:98914
1103	CHAT	HP:0011469	Nasal regurgitation	HP:0040282	ORPHA:98914
1103	CHAT	HP:0012801	Narrow jaw	HP:0040283	ORPHA:98914
1103	CHAT	HP:0030842	Choking episodes	HP:0040282	ORPHA:98914
1103	CHAT	HP:0010307	Stridor	HP:0040283	ORPHA:98914
1103	CHAT	HP:0100285	EMG: impaired neuromuscular transmission	HP:0040282	ORPHA:98914
1103	CHAT	HP:0000961	Cyanosis	HP:0040282	ORPHA:98914
1103	CHAT	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:98914
1103	CHAT	HP:0000276	Long face	HP:0040283	ORPHA:98914
1103	CHAT	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:254210
1103	CHAT	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:98914
1103	CHAT	HP:0002882	Sudden episodic apnea	-	OMIM:254210
1103	CHAT	HP:0002882	Sudden episodic apnea	HP:0040281	ORPHA:98914
1103	CHAT	HP:0000218	High palate	HP:0040283	ORPHA:98914
1103	CHAT	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:98914
1103	CHAT	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:98914
1103	CHAT	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	-	OMIM:254210
1103	CHAT	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	HP:0040282	ORPHA:98914
1103	CHAT	HP:0002870	Obstructive sleep apnea	HP:0040284	ORPHA:98914
1103	CHAT	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:98914
1103	CHAT	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	0/5	OMIM:254210
1103	CHAT	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	-	ORPHA:98914
1103	CHAT	HP:0001618	Dysphonia	HP:0040283	ORPHA:98914
1103	CHAT	HP:0001612	Weak cry	-	OMIM:254210
1103	CHAT	HP:0001612	Weak cry	HP:0040283	ORPHA:98914
1103	CHAT	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:98914
1103	CHAT	HP:0000369	Low-set ears	HP:0040284	ORPHA:98914
1103	CHAT	HP:0000308	Microretrognathia	HP:0040284	ORPHA:98914
1103	CHAT	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:98914
1103	CHAT	HP:0000486	Strabismus	-	OMIM:254210
1103	CHAT	HP:0000467	Neck muscle weakness	HP:0040281	ORPHA:98914
1103	CHAT	HP:0001761	Pes cavus	HP:0040283	ORPHA:98914
1103	CHAT	HP:0000508	Ptosis	-	OMIM:254210
1103	CHAT	HP:0000508	Ptosis	HP:0040281	ORPHA:98914
1103	CHAT	HP:0000597	Ophthalmoparesis	-	OMIM:254210
1103	CHAT	HP:0000565	Esotropia	HP:0040284	ORPHA:98914
1105	CHD1	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:529965
1105	CHD1	HP:0001250	Seizure	HP:0040283	ORPHA:529965
1105	CHD1	HP:0001250	Seizure	2/5	OMIM:617682
1105	CHD1	HP:0001252	Hypotonia	5/5	OMIM:617682
1105	CHD1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:529965
1105	CHD1	HP:0001249	Intellectual disability	2/3	OMIM:617682
1105	CHD1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:529965
1105	CHD1	HP:0001263	Global developmental delay	5/5	OMIM:617682
1105	CHD1	HP:0001212	Prominent fingertip pads	2/5	OMIM:617682
1105	CHD1	HP:0001211	Abnormal fingertip morphology	HP:0040283	ORPHA:529965
1105	CHD1	HP:0008897	Postnatal growth retardation	2/5	OMIM:617682
1105	CHD1	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:529965
1105	CHD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617682
1105	CHD1	HP:0002721	Immunodeficiency	2/5	OMIM:617682
1105	CHD1	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:529965
1105	CHD1	HP:0002007	Frontal bossing	-	OMIM:617682
1105	CHD1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:529965
1105	CHD1	HP:0011800	Midface retrusion	3/5	OMIM:617682
1105	CHD1	HP:0011800	Midface retrusion	HP:0040282	ORPHA:529965
1105	CHD1	HP:0003593	Infantile onset	5/5	OMIM:617682
1105	CHD1	HP:0010648	Dermal translucency	3/5	OMIM:617682
1105	CHD1	HP:0010648	Dermal translucency	HP:0040282	ORPHA:529965
1105	CHD1	HP:0000629	Periorbital fullness	3/5	OMIM:617682
1105	CHD1	HP:0000733	Motor stereotypy	3/5	OMIM:617682
1105	CHD1	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:529965
1105	CHD1	HP:0000717	Autism	3/5	OMIM:617682
1105	CHD1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:529965
1105	CHD1	HP:0000256	Macrocephaly	2/5	OMIM:617682
1105	CHD1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:529965
1105	CHD1	HP:0011098	Speech apraxia	4/5	OMIM:617682
1105	CHD1	HP:0011098	Speech apraxia	HP:0040282	ORPHA:529965
1105	CHD1	HP:0012393	Allergy	HP:0040282	ORPHA:529965
1105	CHD1	HP:0007874	Almond-shaped palpebral fissure	2/5	OMIM:617682
1105	CHD1	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:529965
1105	CHD1	HP:0000307	Pointed chin	-	OMIM:617682
1105	CHD1	HP:0000307	Pointed chin	HP:0040282	ORPHA:529965
1105	CHD1	HP:0000494	Downslanted palpebral fissures	3/5	OMIM:617682
1105	CHD1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:529965
1105	CHD1	HP:0000527	Long eyelashes	1/5	OMIM:617682
1105	CHD1	HP:0011229	Broad eyebrow	2/5	OMIM:617682
1105	CHD1	HP:0000574	Thick eyebrow	HP:0040282	ORPHA:529965
1106	CHD2	HP:0001159	Syndactyly	HP:0040284	ORPHA:1942
1106	CHD2	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040282	ORPHA:1942
1106	CHD2	HP:0009928	Thick nasal alae	HP:0040284	ORPHA:1942
1106	CHD2	HP:0007270	Atypical absence seizure	HP:0040282	ORPHA:2382
1106	CHD2	HP:0007256	Abnormal pyramidal sign	HP:0040284	ORPHA:1942
1106	CHD2	HP:0020216	Visually-induced seizure	3/6	OMIM:615369
1106	CHD2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2382
1106	CHD2	HP:0001268	Mental deterioration	HP:0040282	ORPHA:2382
1106	CHD2	HP:0001252	Hypotonia	HP:0040284	ORPHA:1942
1106	CHD2	HP:0001251	Ataxia	HP:0040283	ORPHA:1942
1106	CHD2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2382
1106	CHD2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1942
1106	CHD2	HP:0001249	Intellectual disability	6/6	OMIM:615369
1106	CHD2	HP:0001263	Global developmental delay	HP:0040284	ORPHA:1942
1106	CHD2	HP:0001263	Global developmental delay	6/6	OMIM:615369
1106	CHD2	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:1942
1106	CHD2	HP:0100851	Abnormal emotional state	HP:0040283	ORPHA:1942
1106	CHD2	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:2382
1106	CHD2	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:1942
1106	CHD2	HP:0002527	Falls	HP:0040282	ORPHA:2382
1106	CHD2	HP:0012075	Personality disorder	HP:0040282	ORPHA:2382
1106	CHD2	HP:0012000	EEG with generalized spikes	4/6	OMIM:615369
1106	CHD2	HP:0012001	EEG with generalized polyspikes	4/6	OMIM:615369
1106	CHD2	HP:0001326	EEG with irregular generalized spike and wave complexes	HP:0040283	ORPHA:1942
1106	CHD2	HP:0001337	Tremor	HP:0040283	ORPHA:1942
1106	CHD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:615369
1106	CHD2	HP:0001336	Myoclonus	HP:0040282	ORPHA:2382
1106	CHD2	HP:0000179	Thick lower lip vermilion	HP:0040284	ORPHA:1942
1106	CHD2	HP:0000154	Wide mouth	HP:0040284	ORPHA:1942
1106	CHD2	HP:0002069	Bilateral tonic-clonic seizure	5/6	OMIM:615369
1106	CHD2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:2382
1106	CHD2	HP:0002123	Generalized myoclonic seizure	6/6	OMIM:615369
1106	CHD2	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:2382
1106	CHD2	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:1942
1106	CHD2	HP:0002121	Generalized non-motor (absence) seizure	1/6	OMIM:615369
1106	CHD2	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:1942
1106	CHD2	HP:0002133	Status epilepticus	2/6	OMIM:615369
1106	CHD2	HP:0003593	Infantile onset	3/6	OMIM:615369
1106	CHD2	HP:0200134	Epileptic encephalopathy	-	OMIM:615369
1106	CHD2	HP:0200134	Epileptic encephalopathy	HP:0040284	ORPHA:1942
1106	CHD2	HP:0002292	Frontal balding	HP:0040284	ORPHA:1942
1106	CHD2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:1942
1106	CHD2	HP:0002392	EEG with polyspike wave complexes	HP:0040282	ORPHA:1942
1106	CHD2	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:2382
1106	CHD2	HP:0002376	Developmental regression	6/6	OMIM:615369
1106	CHD2	HP:0002376	Developmental regression	HP:0040283	ORPHA:2382
1106	CHD2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/6	OMIM:615369
1106	CHD2	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2382
1106	CHD2	HP:0002321	Vertigo	HP:0040283	ORPHA:2382
1106	CHD2	HP:0002317	Unsteady gait	HP:0040284	ORPHA:1942
1106	CHD2	HP:0002332	Lack of peer relationships	HP:0040282	ORPHA:1942
1106	CHD2	HP:0010841	Multifocal epileptiform discharges	4/6	OMIM:615369
1106	CHD2	HP:0010845	EEG with generalized slow activity	HP:0040283	ORPHA:1942
1106	CHD2	HP:0010819	Atonic seizure	3/6	OMIM:615369
1106	CHD2	HP:0010819	Atonic seizure	HP:0040282	ORPHA:1942
1106	CHD2	HP:0010819	Atonic seizure	HP:0040282	ORPHA:2382
1106	CHD2	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:2382
1106	CHD2	HP:0100678	Premature skin wrinkling	HP:0040284	ORPHA:1942
1106	CHD2	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:1942
1106	CHD2	HP:0000752	Hyperactivity	HP:0040282	ORPHA:2382
1106	CHD2	HP:0000752	Hyperactivity	HP:0040282	ORPHA:1942
1106	CHD2	HP:0000737	Irritability	HP:0040282	ORPHA:2382
1106	CHD2	HP:0000750	Delayed speech and language development	HP:0040284	ORPHA:1942
1106	CHD2	HP:0000741	Apathy	HP:0040283	ORPHA:2382
1106	CHD2	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:2382
1106	CHD2	HP:0000729	Autistic behavior	1/2	OMIM:615369
1106	CHD2	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1942
1106	CHD2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:2382
1106	CHD2	HP:0000709	Psychosis	HP:0040283	ORPHA:2382
1106	CHD2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2382
1106	CHD2	HP:0011463	Childhood onset	3/6	OMIM:615369
1106	CHD2	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:2382
1106	CHD2	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:1942
1106	CHD2	HP:0000289	Broad philtrum	HP:0040284	ORPHA:1942
1106	CHD2	HP:0000252	Microcephaly	HP:0040284	ORPHA:1942
1106	CHD2	HP:0000219	Thin upper lip vermilion	HP:0040284	ORPHA:1942
1106	CHD2	HP:0011097	Epileptic spasm	-	ORPHA:1942
1106	CHD2	HP:0000343	Long philtrum	HP:0040284	ORPHA:1942
1106	CHD2	HP:0032792	Tonic seizure	3/6	OMIM:615369
1106	CHD2	HP:0031475	Status epilepticus without prominent motor symptoms	2/6	OMIM:615369
1106	CHD2	HP:0011195	EEG with focal sharp slow waves	HP:0040281	ORPHA:2382
1106	CHD2	HP:0011197	EEG with focal spike waves	HP:0040281	ORPHA:1942
1106	CHD2	HP:0011182	Interictal epileptiform activity	HP:0040283	ORPHA:1942
1106	CHD2	HP:0011171	Simple febrile seizure	HP:0040283	ORPHA:1942
1106	CHD2	HP:0011170	Generalized myoclonic-atonic seizure	HP:0040281	ORPHA:1942
1106	CHD2	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1942
1106	CHD2	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:1942
1106	CHD2	HP:0011220	Prominent forehead	HP:0040284	ORPHA:1942
1106	CHD2	HP:0000568	Microphthalmia	HP:0040284	ORPHA:1942
1107	CHD3	HP:0025268	Stuttering	2/35	OMIM:618205
1107	CHD3	HP:0001252	Hypotonia	21/28	OMIM:618205
1107	CHD3	HP:0001249	Intellectual disability	35/35	OMIM:618205
1107	CHD3	HP:0001260	Dysarthria	1/35	OMIM:618205
1107	CHD3	HP:0001263	Global developmental delay	35/35	OMIM:618205
1107	CHD3	HP:0001382	Joint hypermobility	12/30	OMIM:618205
1107	CHD3	HP:0000023	Inguinal hernia	3/35	OMIM:618205
1107	CHD3	HP:0033725	Thin corpus callosum	2/35	OMIM:618205
1107	CHD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:618205
1107	CHD3	HP:0002650	Scoliosis	2/35	OMIM:618205
1107	CHD3	HP:0006297	Enamel hypoplasia	1/35	OMIM:618205
1107	CHD3	HP:0002007	Frontal bossing	28/33	OMIM:618205
1107	CHD3	HP:0011800	Midface retrusion	-	OMIM:618205
1107	CHD3	HP:0002119	Ventriculomegaly	-	OMIM:618205
1107	CHD3	HP:0002136	Broad-based gait	4/35	OMIM:618205
1107	CHD3	HP:0003593	Infantile onset	-	OMIM:618205
1107	CHD3	HP:0100704	Cerebral visual impairment	3/33	OMIM:618205
1107	CHD3	HP:0007018	Attention deficit hyperactivity disorder	3/24	OMIM:618205
1107	CHD3	HP:0011968	Feeding difficulties	10/32	OMIM:618205
1107	CHD3	HP:0002317	Unsteady gait	5/35	OMIM:618205
1107	CHD3	HP:0000679	Taurodontia	1/35	OMIM:618205
1107	CHD3	HP:0000687	Widely spaced teeth	1/35	OMIM:618205
1107	CHD3	HP:0031936	Delayed ability to walk	-	OMIM:618205
1107	CHD3	HP:0000733	Motor stereotypy	2/35	OMIM:618205
1107	CHD3	HP:0000750	Delayed speech and language development	34/34	OMIM:618205
1107	CHD3	HP:0000729	Autistic behavior	9/31	OMIM:618205
1107	CHD3	HP:0012766	Widened cerebral subarachnoid space	10/30	OMIM:618205
1107	CHD3	HP:0011682	Perimembranous ventricular septal defect	1/35	OMIM:618205
1107	CHD3	HP:0000286	Epicanthus	-	OMIM:618205
1107	CHD3	HP:0000256	Macrocephaly	19/31	OMIM:618205
1107	CHD3	HP:0000218	High palate	9/35	OMIM:618205
1107	CHD3	HP:0001537	Umbilical hernia	1/35	OMIM:618205
1107	CHD3	HP:0011098	Speech apraxia	1/1	OMIM:618205
1107	CHD3	HP:0000369	Low-set ears	-	OMIM:618205
1107	CHD3	HP:0032794	Myoclonic seizure	1/35	OMIM:618205
1107	CHD3	HP:0000316	Hypertelorism	24/31	OMIM:618205
1107	CHD3	HP:0001642	Pulmonic stenosis	1/35	OMIM:618205
1107	CHD3	HP:0001631	Atrial septal defect	1/35	OMIM:618205
1107	CHD3	HP:0000483	Astigmatism	2/35	OMIM:618205
1107	CHD3	HP:0000486	Strabismus	10/33	OMIM:618205
1107	CHD3	HP:0012469	Infantile spasms	1/35	OMIM:618205
1107	CHD3	HP:0000448	Prominent nose	-	OMIM:618205
1107	CHD3	HP:0001760	Abnormal foot morphology	-	OMIM:618205
1107	CHD3	HP:0000431	Wide nasal bridge	-	OMIM:618205
1107	CHD3	HP:0011220	Prominent forehead	-	OMIM:618205
1107	CHD3	HP:0000540	Hypermetropia	11/29	OMIM:618205
1108	CHD4	HP:0001182	Tapered finger	-	OMIM:617159
1108	CHD4	HP:0001252	Hypotonia	4/5	OMIM:617159
1108	CHD4	HP:0001249	Intellectual disability	5/5	OMIM:617159
1108	CHD4	HP:0001263	Global developmental delay	5/5	OMIM:617159
1108	CHD4	HP:0100864	Short femoral neck	-	OMIM:617159
1108	CHD4	HP:0000083	Renal insufficiency	1/5	OMIM:617159
1108	CHD4	HP:0000062	Ambiguous genitalia	-	OMIM:617159
1108	CHD4	HP:0000076	Vesicoureteral reflux	-	OMIM:617159
1108	CHD4	HP:0000044	Hypogonadotropic hypogonadism	3/4	OMIM:617159
1108	CHD4	HP:0000054	Micropenis	3/3	OMIM:617159
1108	CHD4	HP:0002677	Small foramen magnum	1/5	OMIM:617159
1108	CHD4	HP:0000028	Cryptorchidism	2/3	OMIM:617159
1108	CHD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
1108	CHD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:617159
1108	CHD4	HP:0002645	Wormian bones	1/5	OMIM:617159
1108	CHD4	HP:0000193	Bifid uvula	1/5	OMIM:617159
1108	CHD4	HP:0002141	Gait imbalance	1/5	OMIM:617159
1108	CHD4	HP:0002119	Ventriculomegaly	5/5	OMIM:617159
1108	CHD4	HP:0002308	Chiari malformation	1/5	OMIM:617159
1108	CHD4	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
1108	CHD4	HP:0004322	Short stature	1/5	OMIM:617159
1108	CHD4	HP:0012745	Short palpebral fissure	-	OMIM:617159
1108	CHD4	HP:0003180	Flat acetabular roof	-	OMIM:617159
1108	CHD4	HP:0004467	Preauricular pit	-	OMIM:187500
1108	CHD4	HP:0000894	Short clavicles	1/6	OMIM:617159
1108	CHD4	HP:0000286	Epicanthus	-	OMIM:617159
1108	CHD4	HP:0000280	Coarse facial features	-	OMIM:617159
1108	CHD4	HP:0000256	Macrocephaly	4/5	OMIM:617159
1108	CHD4	HP:0000243	Trigonocephaly	-	OMIM:617159
1108	CHD4	HP:0001545	Anteriorly placed anus	-	OMIM:617159
1108	CHD4	HP:0000378	Cupped ear	-	OMIM:617159
1108	CHD4	HP:0002949	Fused cervical vertebrae	2/5	OMIM:617159
1108	CHD4	HP:0000365	Hearing impairment	4/5	OMIM:617159
1108	CHD4	HP:0000369	Low-set ears	-	OMIM:617159
1108	CHD4	HP:0000337	Broad forehead	-	OMIM:187500
1108	CHD4	HP:0001680	Coarctation of aorta	1/6	OMIM:617159
1108	CHD4	HP:0000316	Hypertelorism	-	OMIM:617159
1108	CHD4	HP:0001643	Patent ductus arteriosus	2/5	OMIM:617159
1108	CHD4	HP:0001629	Ventricular septal defect	2/5	OMIM:617159
1108	CHD4	HP:0001636	Tetralogy of Fallot	3/5	OMIM:617159
1108	CHD4	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
1108	CHD4	HP:0001631	Atrial septal defect	2/5	OMIM:617159
1108	CHD4	HP:0000483	Astigmatism	-	OMIM:617159
1108	CHD4	HP:0000520	Proptosis	-	OMIM:187500
1108	CHD4	HP:0000508	Ptosis	-	OMIM:617159
1108	CHD4	HP:0000582	Upslanted palpebral fissure	-	OMIM:617159
1109	AKR1C4	HP:0000062	Ambiguous genitalia	-	OMIM:614279
1109	AKR1C4	HP:0000037	Male pseudohermaphroditism	-	OMIM:614279
1109	AKR1C4	HP:0000028	Cryptorchidism	-	OMIM:614279
1109	AKR1C4	HP:0000007	Autosomal recessive inheritance	-	OMIM:614279
1109	AKR1C4	HP:0012245	Sex reversal	-	OMIM:614279
1111	CHEK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620610
1111	CHEK1	HP:0008222	Female infertility	11/11	OMIM:620610
1111	CHEK1	HP:0033336	Zygotic cleavage failure	2/2	OMIM:620610
1111	CHEK1	HP:0011462	Young adult onset	7/7	OMIM:620610
1116	CHI3L1	HP:0410291	Negativism	-	OMIM:181500
1116	CHI3L1	HP:0000006	Autosomal dominant inheritance	-	OMIM:181500
1116	CHI3L1	HP:0100753	Schizophrenia	-	OMIM:181500
1116	CHI3L1	HP:0007086	Social and occupational deterioration	-	OMIM:181500
1116	CHI3L1	HP:0002353	EEG abnormality	-	OMIM:181500
1116	CHI3L1	HP:0000738	Hallucinations	-	OMIM:181500
1116	CHI3L1	HP:0000746	Delusion	-	OMIM:181500
1119	CHKA	HP:0001276	Hypertonia	6/6	OMIM:620023
1119	CHKA	HP:0001266	Choreoathetosis	1/6	OMIM:620023
1119	CHKA	HP:0002540	Inability to walk	5/6	OMIM:620023
1119	CHKA	HP:0001347	Hyperreflexia	5/5	OMIM:620023
1119	CHKA	HP:0033725	Thin corpus callosum	1/5	OMIM:620023
1119	CHKA	HP:0001344	Absent speech	6/6	OMIM:620023
1119	CHKA	HP:0000007	Autosomal recessive inheritance	-	OMIM:620023
1119	CHKA	HP:0002650	Scoliosis	3/6	OMIM:620023
1119	CHKA	HP:0002063	Rigidity	1/6	OMIM:620023
1119	CHKA	HP:0003429	CNS hypomyelination	2/5	OMIM:620023
1119	CHKA	HP:0002194	Delayed gross motor development	6/6	OMIM:620023
1119	CHKA	HP:0003593	Infantile onset	4/6	OMIM:620023
1119	CHKA	HP:0100704	Cerebral visual impairment	1/6	OMIM:620023
1119	CHKA	HP:0100716	Self-injurious behavior	1/6	OMIM:620023
1119	CHKA	HP:0200134	Epileptic encephalopathy	6/6	OMIM:620023
1119	CHKA	HP:0011968	Feeding difficulties	1/6	OMIM:620023
1119	CHKA	HP:0002360	Sleep abnormality	1/6	OMIM:620023
1119	CHKA	HP:0100660	Dyskinesia	2/6	OMIM:620023
1119	CHKA	HP:0000639	Nystagmus	3/6	OMIM:620023
1119	CHKA	HP:0011344	Severe global developmental delay	6/6	OMIM:620023
1119	CHKA	HP:0004322	Short stature	4/6	OMIM:620023
1119	CHKA	HP:0000752	Hyperactivity	1/6	OMIM:620023
1119	CHKA	HP:0000718	Aggressive behavior	3/6	OMIM:620023
1119	CHKA	HP:0000729	Autistic behavior	1/6	OMIM:620023
1119	CHKA	HP:0011463	Childhood onset	2/6	OMIM:620023
1119	CHKA	HP:0000787	Nephrolithiasis	1/6	OMIM:620023
1119	CHKA	HP:0000252	Microcephaly	6/6	OMIM:620023
1119	CHKA	HP:0000218	High palate	1/6	OMIM:620023
1120	CHKB	HP:0002465	Poor speech	-	OMIM:602541
1120	CHKB	HP:0001290	Generalized hypotonia	15/15	OMIM:602541
1120	CHKB	HP:0001270	Motor delay	-	OMIM:602541
1120	CHKB	HP:0001250	Seizure	3/15	OMIM:602541
1120	CHKB	HP:0001249	Intellectual disability	15/15	OMIM:602541
1120	CHKB	HP:0033686	Mitochondrial hypertrophy	15/15	OMIM:602541
1120	CHKB	HP:0002515	Waddling gait	-	OMIM:602541
1120	CHKB	HP:0001324	Muscle weakness	15/15	OMIM:602541
1120	CHKB	HP:0000007	Autosomal recessive inheritance	-	OMIM:602541
1120	CHKB	HP:0003391	Gowers sign	-	OMIM:602541
1120	CHKB	HP:0003593	Infantile onset	15/15	OMIM:602541
1120	CHKB	HP:0003560	Muscular dystrophy	15/15	OMIM:602541
1120	CHKB	HP:0010628	Facial palsy	-	OMIM:602541
1120	CHKB	HP:0003677	Slowly progressive	-	OMIM:602541
1120	CHKB	HP:0000750	Delayed speech and language development	15/15	OMIM:602541
1120	CHKB	HP:0003198	Myopathy	-	OMIM:602541
1120	CHKB	HP:0003236	Elevated circulating creatine kinase concentration	15/15	OMIM:602541
1120	CHKB	HP:0008064	Ichthyosis	-	OMIM:602541
1120	CHKB	HP:0100297	Increased endomysial connective tissue	15/15	OMIM:602541
1120	CHKB	HP:0000252	Microcephaly	6/13	OMIM:602541
1120	CHKB	HP:0001644	Dilated cardiomyopathy	6/13	OMIM:602541
1121	CHM	HP:0001133	Constriction of peripheral visual field	3/3	OMIM:303100
1121	CHM	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
1121	CHM	HP:0001133	Constriction of peripheral visual field	HP:0040282	ORPHA:180
1121	CHM	HP:0001139	Choroideremia	-	OMIM:303100
1121	CHM	HP:0001139	Choroideremia	HP:0040282	ORPHA:180
1121	CHM	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
1121	CHM	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
1121	CHM	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
1121	CHM	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
1121	CHM	HP:0001417	X-linked inheritance	-	OMIM:303100
1121	CHM	HP:0200065	Chorioretinal degeneration	-	OMIM:303100
1121	CHM	HP:0003621	Juvenile onset	8/19	OMIM:180100
1121	CHM	HP:0003621	Juvenile onset	4/10	OMIM:303100
1121	CHM	HP:0030505	Nummular pigmentation of the fundus	1/4	OMIM:303100
1121	CHM	HP:0000662	Nyctalopia	10/10	OMIM:303100
1121	CHM	HP:0000662	Nyctalopia	26/28	OMIM:180100
1121	CHM	HP:0000662	Nyctalopia	HP:0040281	ORPHA:180
1121	CHM	HP:0030602	Abnormal fundus autofluorescence imaging	HP:0040283	ORPHA:180
1121	CHM	HP:0011463	Childhood onset	3/19	OMIM:180100
1121	CHM	HP:0011463	Childhood onset	6/10	OMIM:303100
1121	CHM	HP:0011462	Young adult onset	8/19	OMIM:180100
1121	CHM	HP:0011506	Choroidal neovascularization	HP:0040283	ORPHA:180
1121	CHM	HP:0040049	Macular edema	HP:0040283	ORPHA:180
1121	CHM	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:180
1121	CHM	HP:0007793	Granular macular appearance	1/4	OMIM:303100
1121	CHM	HP:0007787	Posterior subcapsular cataract	HP:0040283	ORPHA:180
1121	CHM	HP:0007737	Bone spicule pigmentation of the retina	3/6	OMIM:303100
1121	CHM	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
1121	CHM	HP:0007843	Attenuation of retinal blood vessels	4/6	OMIM:303100
1121	CHM	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
1121	CHM	HP:0007814	Retinal pigment epithelial mottling	1/6	OMIM:303100
1121	CHM	HP:0007894	Hypopigmentation of the fundus	4/4	OMIM:303100
1121	CHM	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:180
1121	CHM	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
1121	CHM	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:180
1121	CHM	HP:0000529	Progressive visual loss	3/3	OMIM:303100
1121	CHM	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:180
1121	CHM	HP:0000505	Visual impairment	10/10	OMIM:303100
1121	CHM	HP:0000505	Visual impairment	HP:0040281	ORPHA:180
1121	CHM	HP:0000580	Pigmentary retinopathy	4/4	OMIM:303100
1121	CHM	HP:0000575	Scotoma	5/18	OMIM:180100
1121	CHM	HP:0000533	Chorioretinal atrophy	-	OMIM:303100
1121	CHM	HP:0000533	Chorioretinal atrophy	HP:0040283	ORPHA:180
1121	CHM	HP:0000551	Color vision defect	HP:0040283	ORPHA:180
1121	CHM	HP:0000543	Optic disc pallor	1/1	OMIM:180100
1121	CHM	HP:0000545	Myopia	-	OMIM:180100
1121	CHM	HP:0000545	Myopia	HP:0040281	ORPHA:180
1123	CHN1	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:233
1123	CHN1	HP:0001156	Brachydactyly	HP:0040283	ORPHA:233
1123	CHN1	HP:0025186	Marcus Gunn jaw winking synkinesis	HP:0040283	ORPHA:233
1123	CHN1	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:233
1123	CHN1	HP:0009921	Duane anomaly	HP:0040281	ORPHA:233
1123	CHN1	HP:0009921	Duane anomaly	-	OMIM:604356
1123	CHN1	HP:0001250	Seizure	HP:0040283	ORPHA:233
1123	CHN1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:233
1123	CHN1	HP:0007400	Irregular hyperpigmentation	HP:0040283	ORPHA:233
1123	CHN1	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:233
1123	CHN1	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:233
1123	CHN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:604356
1123	CHN1	HP:0003974	Absent radius	HP:0040283	ORPHA:233
1123	CHN1	HP:0000175	Cleft palate	HP:0040283	ORPHA:233
1123	CHN1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:233
1123	CHN1	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040283	ORPHA:233
1123	CHN1	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:233
1123	CHN1	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:233
1123	CHN1	HP:0000639	Nystagmus	HP:0040283	ORPHA:233
1123	CHN1	HP:0000634	Impaired ocular abduction	HP:0040282	ORPHA:233
1123	CHN1	HP:0000646	Amblyopia	HP:0040283	ORPHA:233
1123	CHN1	HP:0000646	Amblyopia	-	OMIM:604356
1123	CHN1	HP:0000643	Blepharospasm	HP:0040283	ORPHA:233
1123	CHN1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:233
1123	CHN1	HP:0000615	Abnormal pupil morphology	HP:0040283	ORPHA:233
1123	CHN1	HP:0011386	Narrow internal auditory canal	HP:0040283	ORPHA:233
1123	CHN1	HP:0011365	Patchy hypopigmentation of hair	HP:0040283	ORPHA:233
1123	CHN1	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:233
1123	CHN1	HP:0005640	Abnormal vertebral segmentation and fusion	HP:0040282	ORPHA:233
1123	CHN1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:233
1123	CHN1	HP:0012745	Short palpebral fissure	HP:0040281	ORPHA:233
1123	CHN1	HP:0012732	Anorectal anomaly	HP:0040283	ORPHA:233
1123	CHN1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:233
1123	CHN1	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:233
1123	CHN1	HP:0100274	Gustatory lacrimation	HP:0040283	ORPHA:233
1123	CHN1	HP:0012246	Oculomotor nerve palsy	HP:0040281	ORPHA:233
1123	CHN1	HP:0007766	Optic disc hypoplasia	HP:0040283	ORPHA:233
1123	CHN1	HP:0000252	Microcephaly	HP:0040283	ORPHA:233
1123	CHN1	HP:0000232	Everted lower lip vermilion	HP:0040283	ORPHA:233
1123	CHN1	HP:0007818	Central heterochromia	HP:0040283	ORPHA:233
1123	CHN1	HP:0012385	Camptodactyly	HP:0040283	ORPHA:233
1123	CHN1	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:233
1123	CHN1	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:233
1123	CHN1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:233
1123	CHN1	HP:0000347	Micrognathia	HP:0040283	ORPHA:233
1123	CHN1	HP:0002984	Hypoplasia of the radius	HP:0040283	ORPHA:233
1123	CHN1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:233
1123	CHN1	HP:0007990	Hypoplastic iris stroma	HP:0040283	ORPHA:233
1123	CHN1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:233
1123	CHN1	HP:0000402	Stenosis of the external auditory canal	HP:0040283	ORPHA:233
1123	CHN1	HP:0000486	Strabismus	-	OMIM:604356
1123	CHN1	HP:0000486	Strabismus	HP:0040281	ORPHA:233
1123	CHN1	HP:0000482	Microcornea	HP:0040283	ORPHA:233
1123	CHN1	HP:0000496	Abnormality of eye movement	HP:0040281	ORPHA:233
1123	CHN1	HP:0000490	Deeply set eye	HP:0040282	ORPHA:233
1123	CHN1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:233
1123	CHN1	HP:0000470	Short neck	HP:0040283	ORPHA:233
1123	CHN1	HP:0000465	Webbed neck	HP:0040283	ORPHA:233
1123	CHN1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:233
1123	CHN1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:233
1123	CHN1	HP:0031705	Compensatory head posture	HP:0040283	ORPHA:233
1123	CHN1	HP:0000526	Aniridia	HP:0040283	ORPHA:233
1123	CHN1	HP:0000508	Ptosis	HP:0040283	ORPHA:233
1123	CHN1	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:233
1123	CHN1	HP:0000567	Chorioretinal coloboma	HP:0040283	ORPHA:233
1123	CHN1	HP:0000542	Impaired ocular adduction	HP:0040282	ORPHA:233
1130	LYST	HP:0001107	Ocular albinism	HP:0040281	ORPHA:352723
1130	LYST	HP:0001107	Ocular albinism	8/9	OMIM:214500
1130	LYST	HP:0001104	Macular hypoplasia	-	OMIM:214500
1130	LYST	HP:0001276	Hypertonia	HP:0040283	ORPHA:352723
1130	LYST	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:167
1130	LYST	HP:0001288	Gait disturbance	HP:0040283	ORPHA:167
1130	LYST	HP:0001288	Gait disturbance	-	OMIM:214500
1130	LYST	HP:0001250	Seizure	-	OMIM:214500
1130	LYST	HP:0001250	Seizure	HP:0040283	ORPHA:167
1130	LYST	HP:0001251	Ataxia	HP:0040283	ORPHA:167
1130	LYST	HP:0001251	Ataxia	-	OMIM:214500
1130	LYST	HP:0001249	Intellectual disability	HP:0040281	ORPHA:352723
1130	LYST	HP:0001249	Intellectual disability	-	OMIM:214500
1130	LYST	HP:0001249	Intellectual disability	HP:0040283	ORPHA:167
1130	LYST	HP:0001265	Hyporeflexia	-	OMIM:214500
1130	LYST	HP:0001258	Spastic paraplegia	HP:0040283	ORPHA:167
1130	LYST	HP:0002540	Inability to walk	HP:0040283	ORPHA:167
1130	LYST	HP:0007513	Generalized hypopigmentation	HP:0040281	ORPHA:352723
1130	LYST	HP:0032499	Giant neutrophil granules	11/11	OMIM:214500
1130	LYST	HP:0007499	Recurrent staphylococcal infections	HP:0040282	ORPHA:167
1130	LYST	HP:0001328	Specific learning disability	HP:0040283	ORPHA:167
1130	LYST	HP:0001324	Muscle weakness	HP:0040283	ORPHA:167
1130	LYST	HP:0001324	Muscle weakness	-	OMIM:214500
1130	LYST	HP:0000007	Autosomal recessive inheritance	-	OMIM:214500
1130	LYST	HP:0001337	Tremor	HP:0040283	ORPHA:167
1130	LYST	HP:0001337	Tremor	-	OMIM:214500
1130	LYST	HP:0001300	Parkinsonism	HP:0040283	ORPHA:167
1130	LYST	HP:0012176	Abnormal natural killer cell morphology	HP:0040282	ORPHA:167
1130	LYST	HP:0012156	Hemophagocytosis	HP:0040281	ORPHA:167
1130	LYST	HP:0012156	Hemophagocytosis	-	OMIM:214500
1130	LYST	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	HP:0040281	ORPHA:167
1130	LYST	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:167
1130	LYST	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:167
1130	LYST	HP:0007663	Reduced visual acuity	2/9	OMIM:214500
1130	LYST	HP:0006308	Atrophy of alveolar ridges	HP:0040283	ORPHA:167
1130	LYST	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:167
1130	LYST	HP:0001410	Decreased liver function	HP:0040282	ORPHA:167
1130	LYST	HP:0002719	Recurrent infections	HP:0040281	ORPHA:167
1130	LYST	HP:0002719	Recurrent infections	6/7	OMIM:214500
1130	LYST	HP:0002718	Recurrent bacterial infections	HP:0040281	ORPHA:167
1130	LYST	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:167
1130	LYST	HP:0002716	Lymphadenopathy	-	OMIM:214500
1130	LYST	HP:0002721	Immunodeficiency	HP:0040282	ORPHA:167
1130	LYST	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:352723
1130	LYST	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:167
1130	LYST	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:352723
1130	LYST	HP:0003474	Somatic sensory dysfunction	HP:0040283	ORPHA:167
1130	LYST	HP:0002155	Hypertriglyceridemia	HP:0040283	ORPHA:167
1130	LYST	HP:0011900	Hypofibrinogenemia	HP:0040283	ORPHA:167
1130	LYST	HP:0002180	Neurodegeneration	-	OMIM:214500
1130	LYST	HP:0011869	Abnormal platelet function	HP:0040282	ORPHA:167
1130	LYST	HP:0003593	Infantile onset	14/19	OMIM:214500
1130	LYST	HP:0002240	Hepatomegaly	2/4	OMIM:214500
1130	LYST	HP:0002218	Silver-gray hair	4/4	OMIM:214500
1130	LYST	HP:0002202	Pleural effusion	HP:0040283	ORPHA:167
1130	LYST	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:167
1130	LYST	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:352723
1130	LYST	HP:0011993	Impaired neutrophil bactericidal activity	-	OMIM:214500
1130	LYST	HP:0011990	Abnormal neutrophil physiology	HP:0040282	ORPHA:167
1130	LYST	HP:0020096	Recurrent streptococcal infections	HP:0040282	ORPHA:167
1130	LYST	HP:0001010	Hypopigmentation of the skin	1/1	OMIM:214500
1130	LYST	HP:0001010	Hypopigmentation of the skin	HP:0040281	ORPHA:167
1130	LYST	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:167
1130	LYST	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:352723
1130	LYST	HP:0200042	Skin ulcer	HP:0040281	ORPHA:352723
1130	LYST	HP:0007133	Progressive peripheral neuropathy	-	OMIM:214500
1130	LYST	HP:0003623	Neonatal onset	1/9	OMIM:214500
1130	LYST	HP:0002311	Incoordination	HP:0040283	ORPHA:352723
1130	LYST	HP:0007178	Motor polyneuropathy	HP:0040283	ORPHA:167
1130	LYST	HP:0006824	Cranial nerve paralysis	-	OMIM:214500
1130	LYST	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:167
1130	LYST	HP:0006827	Atrophy of the spinal cord	HP:0040283	ORPHA:167
1130	LYST	HP:0005599	Hypopigmentation of hair	8/8	OMIM:214500
1130	LYST	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:167
1130	LYST	HP:0005592	Giant melanosomes in melanocytes	-	OMIM:214500
1130	LYST	HP:0005585	Spotty hyperpigmentation	HP:0040284	ORPHA:167
1130	LYST	HP:0000639	Nystagmus	-	OMIM:214500
1130	LYST	HP:0000613	Photophobia	HP:0040282	ORPHA:167
1130	LYST	HP:0000613	Photophobia	-	OMIM:214500
1130	LYST	HP:0001945	Fever	HP:0040282	ORPHA:167
1130	LYST	HP:0001928	Abnormality of coagulation	HP:0040281	ORPHA:352723
1130	LYST	HP:0001922	Vacuolated lymphocytes	HP:0040281	ORPHA:167
1130	LYST	HP:0001903	Anemia	HP:0040283	ORPHA:167
1130	LYST	HP:0001903	Anemia	11/11	OMIM:214500
1130	LYST	HP:0009027	Foot dorsiflexor weakness	-	OMIM:214500
1130	LYST	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:167
1130	LYST	HP:0003075	Hypoproteinemia	HP:0040283	ORPHA:167
1130	LYST	HP:0100022	Abnormality of movement	HP:0040283	ORPHA:352723
1130	LYST	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:167
1130	LYST	HP:0000762	Decreased nerve conduction velocity	-	OMIM:214500
1130	LYST	HP:0000762	Decreased nerve conduction velocity	HP:0040283	ORPHA:167
1130	LYST	HP:0000726	Dementia	HP:0040283	ORPHA:167
1130	LYST	HP:0000704	Periodontitis	HP:0040282	ORPHA:167
1130	LYST	HP:0000704	Periodontitis	-	OMIM:214500
1130	LYST	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:167
1130	LYST	HP:0011462	Young adult onset	4/9	OMIM:214500
1130	LYST	HP:0004406	Spontaneous, recurrent epistaxis	-	OMIM:214500
1130	LYST	HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	HP:0040282	ORPHA:167
1130	LYST	HP:0003281	Increased circulating ferritin concentration	HP:0040282	ORPHA:167
1130	LYST	HP:0000978	Bruising susceptibility	-	OMIM:214500
1130	LYST	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:167
1130	LYST	HP:0000978	Bruising susceptibility	HP:0040281	ORPHA:352723
1130	LYST	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:167
1130	LYST	HP:0000988	Skin rash	HP:0040283	ORPHA:167
1130	LYST	HP:0000952	Jaundice	HP:0040283	ORPHA:167
1130	LYST	HP:0000952	Jaundice	-	OMIM:214500
1130	LYST	HP:0000969	Edema	HP:0040283	ORPHA:167
1130	LYST	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:167
1130	LYST	HP:0031408	Increased proportion of CD25+ mast cells	HP:0040281	ORPHA:167
1130	LYST	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:167
1130	LYST	HP:0007730	Iris hypopigmentation	-	OMIM:214500
1130	LYST	HP:0001583	Rotary nystagmus	HP:0040282	ORPHA:167
1130	LYST	HP:0000230	Gingivitis	-	OMIM:214500
1130	LYST	HP:0000225	Gingival bleeding	HP:0040281	ORPHA:352723
1130	LYST	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:167
1130	LYST	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:167
1130	LYST	HP:0002902	Hyponatremia	HP:0040283	ORPHA:167
1130	LYST	HP:0001698	Pericardial effusion	HP:0040283	ORPHA:167
1130	LYST	HP:0012484	Abnormal dense granules	-	OMIM:214500
1130	LYST	HP:0000486	Strabismus	HP:0040283	ORPHA:167
1130	LYST	HP:0000486	Strabismus	-	OMIM:214500
1130	LYST	HP:0012444	Brain atrophy	HP:0040283	ORPHA:167
1130	LYST	HP:0001744	Splenomegaly	HP:0040282	ORPHA:167
1130	LYST	HP:0001744	Splenomegaly	2/4	OMIM:214500
1130	LYST	HP:0000421	Epistaxis	HP:0040283	ORPHA:167
1130	LYST	HP:0000421	Epistaxis	HP:0040281	ORPHA:352723
1130	LYST	HP:0005406	Recurrent bacterial skin infections	HP:0040282	ORPHA:167
1130	LYST	HP:0005406	Recurrent bacterial skin infections	3/4	OMIM:214500
1130	LYST	HP:0005429	Recurrent systemic pyogenic infections	-	OMIM:214500
1130	LYST	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:167
1130	LYST	HP:0001881	Abnormal leukocyte morphology	HP:0040281	ORPHA:167
1130	LYST	HP:0001882	Decreased total leukocyte count	-	OMIM:214500
1130	LYST	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:167
1130	LYST	HP:0001873	Thrombocytopenia	-	OMIM:214500
1130	LYST	HP:0001876	Pancytopenia	HP:0040283	ORPHA:167
1130	LYST	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:167
1130	LYST	HP:0001875	Decreased total neutrophil count	-	OMIM:214500
1131	CHRM3	HP:0010957	Congenital posterior urethral valve	HP:0040281	ORPHA:2970
1131	CHRM3	HP:0010957	Congenital posterior urethral valve	5/5	OMIM:100100
1131	CHRM3	HP:0002580	Volvulus	HP:0040283	ORPHA:2970
1131	CHRM3	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:2970
1131	CHRM3	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:2970
1131	CHRM3	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:2970
1131	CHRM3	HP:0000076	Vesicoureteral reflux	HP:0040281	ORPHA:2970
1131	CHRM3	HP:0000072	Hydroureter	HP:0040281	ORPHA:2970
1131	CHRM3	HP:0000072	Hydroureter	-	OMIM:100100
1131	CHRM3	HP:0000069	Abnormality of the ureter	HP:0040281	ORPHA:2970
1131	CHRM3	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:2970
1131	CHRM3	HP:0001374	Congenital hip dislocation	-	OMIM:100100
1131	CHRM3	HP:0000014	Abnormality of the bladder	HP:0040281	ORPHA:2970
1131	CHRM3	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2970
1131	CHRM3	HP:0000028	Cryptorchidism	-	OMIM:100100
1131	CHRM3	HP:0000010	Recurrent urinary tract infections	HP:0040282	ORPHA:2970
1131	CHRM3	HP:0000007	Autosomal recessive inheritance	-	OMIM:100100
1131	CHRM3	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:2970
1131	CHRM3	HP:0002650	Scoliosis	HP:0040283	ORPHA:2970
1131	CHRM3	HP:0000144	Decreased fertility	HP:0040281	ORPHA:2970
1131	CHRM3	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:2970
1131	CHRM3	HP:0000126	Hydronephrosis	-	OMIM:100100
1131	CHRM3	HP:0002023	Anal atresia	HP:0040283	ORPHA:2970
1131	CHRM3	HP:0002023	Anal atresia	-	OMIM:100100
1131	CHRM3	HP:0002019	Constipation	HP:0040282	ORPHA:2970
1131	CHRM3	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2970
1131	CHRM3	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:2970
1131	CHRM3	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:2970
1131	CHRM3	HP:0100779	Urogenital sinus anomaly	HP:0040283	ORPHA:2970
1131	CHRM3	HP:0004392	Prune belly	2/5	OMIM:100100
1131	CHRM3	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:2970
1131	CHRM3	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:2970
1131	CHRM3	HP:0000767	Pectus excavatum	-	OMIM:100100
1131	CHRM3	HP:0000768	Pectus carinatum	-	OMIM:100100
1131	CHRM3	HP:0000217	Xerostomia	6/6	OMIM:100100
1131	CHRM3	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:2970
1131	CHRM3	HP:0001562	Oligohydramnios	-	OMIM:100100
1131	CHRM3	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2970
1131	CHRM3	HP:0005199	Aplasia of the abdominal wall musculature	HP:0040281	ORPHA:2970
1131	CHRM3	HP:0005199	Aplasia of the abdominal wall musculature	-	OMIM:100100
1131	CHRM3	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:2970
1131	CHRM3	HP:0001643	Patent ductus arteriosus	-	OMIM:100100
1131	CHRM3	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:2970
1131	CHRM3	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:2970
1131	CHRM3	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:2970
1131	CHRM3	HP:0030211	Slow pupillary light response	6/6	OMIM:100100
1131	CHRM3	HP:0011100	Intestinal atresia	HP:0040283	ORPHA:2970
1131	CHRM3	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:2970
1131	CHRM3	HP:0001762	Talipes equinovarus	-	OMIM:100100
1131	CHRM3	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040281	ORPHA:2970
1134	CHRNA1	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0001270	Motor delay	-	OMIM:608930
1134	CHRNA1	HP:0001283	Bulbar palsy	-	OMIM:608930
1134	CHRNA1	HP:0001252	Hypotonia	-	OMIM:608930
1134	CHRNA1	HP:0001260	Dysarthria	-	OMIM:608930
1134	CHRNA1	HP:0001260	Dysarthria	-	OMIM:601462
1134	CHRNA1	HP:0007340	Lower limb muscle weakness	1/4	OMIM:601462
1134	CHRNA1	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0001371	Flexion contracture	-	OMIM:253290
1134	CHRNA1	HP:0001373	Joint dislocation	-	OMIM:253290
1134	CHRNA1	HP:0410011	Abnormality of masticatory muscle	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0002659	Increased susceptibility to fractures	-	OMIM:253290
1134	CHRNA1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608930
1134	CHRNA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:253290
1134	CHRNA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:608930
1134	CHRNA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:601462
1134	CHRNA1	HP:0002650	Scoliosis	-	OMIM:608930
1134	CHRNA1	HP:0002650	Scoliosis	HP:0040283	ORPHA:98913
1134	CHRNA1	HP:0001319	Neonatal hypotonia	-	OMIM:608930
1134	CHRNA1	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0031108	Triceps weakness	HP:0040283	ORPHA:98913
1134	CHRNA1	HP:0000175	Cleft palate	-	OMIM:253290
1134	CHRNA1	HP:0008954	Intrinsic hand muscle atrophy	1/4	OMIM:601462
1134	CHRNA1	HP:0001446	Abnormality of the musculature of the upper limbs	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:98913
1134	CHRNA1	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:608930
1134	CHRNA1	HP:0002033	Poor suck	-	OMIM:608930
1134	CHRNA1	HP:0002015	Dysphagia	-	OMIM:608930
1134	CHRNA1	HP:0002015	Dysphagia	-	OMIM:601462
1134	CHRNA1	HP:0003324	Generalized muscle weakness	2/4	OMIM:601462
1134	CHRNA1	HP:0003324	Generalized muscle weakness	-	OMIM:608930
1134	CHRNA1	HP:0002089	Pulmonary hypoplasia	-	OMIM:253290
1134	CHRNA1	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:98913
1134	CHRNA1	HP:0003391	Gowers sign	-	OMIM:608930
1134	CHRNA1	HP:0002047	Malignant hyperthermia	-	OMIM:253290
1134	CHRNA1	HP:0003388	Easy fatigability	2/2	OMIM:608930
1134	CHRNA1	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0005905	Abnormal cervical curvature	-	OMIM:253290
1134	CHRNA1	HP:0003473	Fatigable weakness	4/4	OMIM:601462
1134	CHRNA1	HP:0003484	Upper limb muscle weakness	4/4	OMIM:601462
1134	CHRNA1	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0003443	Decreased size of nerve terminals	-	OMIM:601462
1134	CHRNA1	HP:0003443	Decreased size of nerve terminals	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0003436	Prolonged miniature endplate currents	-	OMIM:601462
1134	CHRNA1	HP:0003402	Decreased miniature endplate potentials	-	OMIM:608930
1134	CHRNA1	HP:0003402	Decreased miniature endplate potentials	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2/2	OMIM:608930
1134	CHRNA1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:98913
1134	CHRNA1	HP:0003596	Middle age onset	1/4	OMIM:601462
1134	CHRNA1	HP:0003593	Infantile onset	-	OMIM:608930
1134	CHRNA1	HP:0003593	Infantile onset	1/4	OMIM:601462
1134	CHRNA1	HP:0003577	Congenital onset	2/2	OMIM:608930
1134	CHRNA1	HP:0003554	Type 2 muscle fiber atrophy	-	OMIM:601462
1134	CHRNA1	HP:0003554	Type 2 muscle fiber atrophy	-	OMIM:608930
1134	CHRNA1	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	-	OMIM:601462
1134	CHRNA1	HP:0011968	Feeding difficulties	-	OMIM:601462
1134	CHRNA1	HP:0010628	Facial palsy	-	OMIM:608930
1134	CHRNA1	HP:0010628	Facial palsy	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0003690	Limb muscle weakness	2/2	OMIM:608930
1134	CHRNA1	HP:0001040	Multiple pterygia	-	OMIM:253290
1134	CHRNA1	HP:0002329	Drowsiness	HP:0040283	ORPHA:98913
1134	CHRNA1	HP:0002304	Akinesia	-	OMIM:253290
1134	CHRNA1	HP:0003634	Amyoplasia	-	OMIM:253290
1134	CHRNA1	HP:0003621	Juvenile onset	1/4	OMIM:601462
1134	CHRNA1	HP:0009077	Weakness of long finger extensor muscles	HP:0040283	ORPHA:98913
1134	CHRNA1	HP:0001961	Hypoplastic heart	-	OMIM:253290
1134	CHRNA1	HP:0000651	Diplopia	HP:0040283	ORPHA:98913
1134	CHRNA1	HP:0000602	Ophthalmoplegia	-	OMIM:601462
1134	CHRNA1	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0001989	Fetal akinesia sequence	-	OMIM:253290
1134	CHRNA1	HP:0001999	Abnormal facial shape	-	OMIM:253290
1134	CHRNA1	HP:0005659	Thoracic kyphoscoliosis	HP:0040283	ORPHA:98913
1134	CHRNA1	HP:0009130	Hand muscle atrophy	3/4	OMIM:601462
1134	CHRNA1	HP:0012764	Orthopnea	HP:0040283	ORPHA:98913
1134	CHRNA1	HP:0009113	Diaphragmatic weakness	2/4	OMIM:601462
1134	CHRNA1	HP:0000883	Thin ribs	-	OMIM:253290
1134	CHRNA1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0000969	Edema	-	OMIM:253290
1134	CHRNA1	HP:0000961	Cyanosis	HP:0040283	ORPHA:98913
1134	CHRNA1	HP:0009381	Short finger	-	OMIM:253290
1134	CHRNA1	HP:0000286	Epicanthus	-	OMIM:253290
1134	CHRNA1	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:608930
1134	CHRNA1	HP:0002878	Respiratory failure	HP:0040283	ORPHA:98913
1134	CHRNA1	HP:0000218	High palate	-	OMIM:608930
1134	CHRNA1	HP:0000218	High palate	HP:0040283	OMIM:601462
1134	CHRNA1	HP:0000218	High palate	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:98913
1134	CHRNA1	HP:0001561	Polyhydramnios	-	OMIM:253290
1134	CHRNA1	HP:0031374	Ankle weakness	HP:0040283	ORPHA:98913
1134	CHRNA1	HP:0001511	Intrauterine growth retardation	-	OMIM:253290
1134	CHRNA1	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	0/4	OMIM:601462
1134	CHRNA1	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	0/2	OMIM:608930
1134	CHRNA1	HP:0005216	Impaired mastication	1/4	OMIM:601462
1134	CHRNA1	HP:0002948	Vertebral fusion	-	OMIM:253290
1134	CHRNA1	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040283	ORPHA:98913
1134	CHRNA1	HP:0001612	Weak cry	-	OMIM:608930
1134	CHRNA1	HP:0030199	Fatigable weakness of neck muscles	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0000369	Low-set ears	-	OMIM:253290
1134	CHRNA1	HP:0000347	Micrognathia	-	OMIM:608930
1134	CHRNA1	HP:0000347	Micrognathia	-	OMIM:253290
1134	CHRNA1	HP:0000316	Hypertelorism	-	OMIM:253290
1134	CHRNA1	HP:0030319	Weakness of facial musculature	2/2	OMIM:608930
1134	CHRNA1	HP:0000400	Macrotia	-	OMIM:608930
1134	CHRNA1	HP:0000476	Cystic hygroma	-	OMIM:253290
1134	CHRNA1	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0000457	Depressed nasal ridge	-	OMIM:253290
1134	CHRNA1	HP:0000467	Neck muscle weakness	2/2	OMIM:608930
1134	CHRNA1	HP:0025709	Intermediate young adult onset	1/4	OMIM:601462
1134	CHRNA1	HP:0000508	Ptosis	-	OMIM:608930
1134	CHRNA1	HP:0000508	Ptosis	-	OMIM:601462
1134	CHRNA1	HP:0000508	Ptosis	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0000597	Ophthalmoparesis	-	OMIM:601462
1134	CHRNA1	HP:0000597	Ophthalmoparesis	-	OMIM:608930
1134	CHRNA1	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:98913
1134	CHRNA1	HP:0012515	Hip flexor weakness	HP:0040283	ORPHA:98913
1135	CHRNA2	HP:0025144	Shivering	-	OMIM:610353
1135	CHRNA2	HP:0025237	Confusional arousal	HP:0040283	ORPHA:98784
1135	CHRNA2	HP:0001289	Confusion	-	OMIM:610353
1135	CHRNA2	HP:0025236	Somnambulism	HP:0040283	ORPHA:98784
1135	CHRNA2	HP:0025235	NREM parasomnia	HP:0040284	ORPHA:98784
1135	CHRNA2	HP:0001256	Intellectual disability, mild	HP:0040284	ORPHA:98784
1135	CHRNA2	HP:0003829	Typified by incomplete penetrance	-	OMIM:610353
1135	CHRNA2	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:98784
1135	CHRNA2	HP:0001345	Psychotic mentation	HP:0040284	ORPHA:98784
1135	CHRNA2	HP:0001332	Dystonia	-	OMIM:610353
1135	CHRNA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:610353
1135	CHRNA2	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:98784
1135	CHRNA2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040284	ORPHA:98784
1135	CHRNA2	HP:0002268	Paroxysmal dystonia	HP:0040282	ORPHA:98784
1135	CHRNA2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040284	ORPHA:98784
1135	CHRNA2	HP:0003621	Juvenile onset	8/10	OMIM:610353
1135	CHRNA2	HP:0031951	Nocturnal seizures	HP:0040281	ORPHA:98784
1135	CHRNA2	HP:0031951	Nocturnal seizures	10/10	OMIM:610353
1135	CHRNA2	HP:0004305	Involuntary movements	HP:0040282	ORPHA:98784
1135	CHRNA2	HP:0000739	Anxiety	HP:0040283	ORPHA:98784
1135	CHRNA2	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:98784
1135	CHRNA2	HP:0000716	Depression	HP:0040283	ORPHA:98784
1135	CHRNA2	HP:0000708	Atypical behavior	-	OMIM:610353
1135	CHRNA2	HP:0000708	Atypical behavior	HP:0040284	ORPHA:98784
1135	CHRNA2	HP:0011463	Childhood onset	1/10	OMIM:610353
1135	CHRNA2	HP:0012759	Neurodevelopmental abnormality	0/10	OMIM:610353
1135	CHRNA2	HP:0002883	Hyperventilation	HP:0040283	ORPHA:98784
1135	CHRNA2	HP:0031535	Increased theta frequency activity in EEG	HP:0040283	ORPHA:98784
1135	CHRNA2	HP:0011193	EEG with focal spikes	HP:0040283	ORPHA:98784
1135	CHRNA2	HP:0011182	Interictal epileptiform activity	HP:0040283	ORPHA:98784
1135	CHRNA2	HP:0011174	Focal hyperkinetic seizure	HP:0040283	ORPHA:98784
1135	CHRNA2	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:98784
1135	CHRNA2	HP:0025710	Late young adult onset	1/10	OMIM:610353
1136	CHRNA3	HP:0001278	Orthostatic hypotension	1/5	OMIM:191800
1136	CHRNA3	HP:0000076	Vesicoureteral reflux	2/5	OMIM:191800
1136	CHRNA3	HP:0000047	Hypospadias	1/3	OMIM:191800
1136	CHRNA3	HP:0000011	Neurogenic bladder	2/5	OMIM:191800
1136	CHRNA3	HP:0000010	Recurrent urinary tract infections	2/5	OMIM:191800
1136	CHRNA3	HP:0000007	Autosomal recessive inheritance	-	OMIM:191800
1136	CHRNA3	HP:0000126	Hydronephrosis	2/5	OMIM:191800
1136	CHRNA3	HP:0002020	Gastroesophageal reflux	1/5	OMIM:191800
1136	CHRNA3	HP:0012624	Stage 2 chronic kidney disease	2/5	OMIM:191800
1136	CHRNA3	HP:0001508	Failure to thrive	1/5	OMIM:191800
1136	CHRNA3	HP:0030211	Slow pupillary light response	4/5	OMIM:191800
1137	CHRNA4	HP:0025237	Confusional arousal	HP:0040283	ORPHA:98784
1137	CHRNA4	HP:0025236	Somnambulism	HP:0040283	ORPHA:98784
1137	CHRNA4	HP:0025235	NREM parasomnia	HP:0040284	ORPHA:98784
1137	CHRNA4	HP:0001256	Intellectual disability, mild	HP:0040284	ORPHA:98784
1137	CHRNA4	HP:0001250	Seizure	-	OMIM:600513
1137	CHRNA4	HP:0001249	Intellectual disability	HP:0040283	OMIM:600513
1137	CHRNA4	HP:0007359	Focal-onset seizure	-	OMIM:600513
1137	CHRNA4	HP:0003829	Typified by incomplete penetrance	-	OMIM:600513
1137	CHRNA4	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:98784
1137	CHRNA4	HP:0001345	Psychotic mentation	HP:0040284	ORPHA:98784
1137	CHRNA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:600513
1137	CHRNA4	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:98784
1137	CHRNA4	HP:0002069	Bilateral tonic-clonic seizure	HP:0040284	ORPHA:98784
1137	CHRNA4	HP:0002268	Paroxysmal dystonia	HP:0040282	ORPHA:98784
1137	CHRNA4	HP:0007018	Attention deficit hyperactivity disorder	HP:0040284	ORPHA:98784
1137	CHRNA4	HP:0031951	Nocturnal seizures	HP:0040281	ORPHA:98784
1137	CHRNA4	HP:0004305	Involuntary movements	HP:0040282	ORPHA:98784
1137	CHRNA4	HP:0000739	Anxiety	HP:0040283	ORPHA:98784
1137	CHRNA4	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:98784
1137	CHRNA4	HP:0000716	Depression	HP:0040283	ORPHA:98784
1137	CHRNA4	HP:0000708	Atypical behavior	HP:0040284	ORPHA:98784
1137	CHRNA4	HP:0011463	Childhood onset	-	OMIM:600513
1137	CHRNA4	HP:0002883	Hyperventilation	HP:0040283	ORPHA:98784
1137	CHRNA4	HP:0031535	Increased theta frequency activity in EEG	HP:0040283	ORPHA:98784
1137	CHRNA4	HP:0011193	EEG with focal spikes	HP:0040283	ORPHA:98784
1137	CHRNA4	HP:0011182	Interictal epileptiform activity	HP:0040283	ORPHA:98784
1137	CHRNA4	HP:0011174	Focal hyperkinetic seizure	HP:0040283	ORPHA:98784
1137	CHRNA4	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:98784
1139	CHRNA7	HP:0001156	Brachydactyly	3/19	OMIM:612001
1139	CHRNA7	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:199318
1139	CHRNA7	HP:0010864	Intellectual disability, severe	3/18	OMIM:612001
1139	CHRNA7	HP:0001256	Intellectual disability, mild	5/17	OMIM:612001
1139	CHRNA7	HP:0001250	Seizure	HP:0040283	ORPHA:199318
1139	CHRNA7	HP:0001250	Seizure	2/18	OMIM:612001
1139	CHRNA7	HP:0001252	Hypotonia	HP:0040283	ORPHA:199318
1139	CHRNA7	HP:0001252	Hypotonia	9/18	OMIM:612001
1139	CHRNA7	HP:0001249	Intellectual disability	HP:0040282	ORPHA:199318
1139	CHRNA7	HP:0001263	Global developmental delay	HP:0040282	ORPHA:199318
1139	CHRNA7	HP:0003829	Typified by incomplete penetrance	50%	OMIM:612001
1139	CHRNA7	HP:0001328	Specific learning disability	7/25	OMIM:612001
1139	CHRNA7	HP:0000006	Autosomal dominant inheritance	-	OMIM:612001
1139	CHRNA7	HP:0002007	Frontal bossing	HP:0040283	ORPHA:199318
1139	CHRNA7	HP:0100753	Schizophrenia	HP:0040283	ORPHA:199318
1139	CHRNA7	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:199318
1139	CHRNA7	HP:0002342	Intellectual disability, moderate	6/17	OMIM:612001
1139	CHRNA7	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:199318
1139	CHRNA7	HP:0004209	Clinodactyly of the 5th finger	4/19	OMIM:612001
1139	CHRNA7	HP:0001999	Abnormal facial shape	HP:0040282	OMIM:612001
1139	CHRNA7	HP:0000664	Synophrys	3/19	OMIM:612001
1139	CHRNA7	HP:0004322	Short stature	HP:0040283	ORPHA:199318
1139	CHRNA7	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:199318
1139	CHRNA7	HP:0030680	Abnormal cardiovascular system morphology	3/19	OMIM:612001
1139	CHRNA7	HP:0000717	Autism	HP:0040283	ORPHA:199318
1139	CHRNA7	HP:0000708	Atypical behavior	10/19	OMIM:612001
1139	CHRNA7	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:199318
1139	CHRNA7	HP:0008050	Abnormality of the palpebral fissures	7/19	OMIM:612001
1139	CHRNA7	HP:0000286	Epicanthus	HP:0040283	ORPHA:199318
1139	CHRNA7	HP:0000256	Macrocephaly	HP:0040283	ORPHA:199318
1139	CHRNA7	HP:0000252	Microcephaly	HP:0040283	ORPHA:199318
1139	CHRNA7	HP:0000377	Abnormal pinna morphology	6/19	OMIM:612001
1139	CHRNA7	HP:0000316	Hypertelorism	3/19	OMIM:612001
1139	CHRNA7	HP:0000400	Macrotia	HP:0040283	ORPHA:199318
1139	CHRNA7	HP:0005274	Prominent nasal tip	HP:0040283	ORPHA:199318
1139	CHRNA7	HP:0000486	Strabismus	HP:0040283	ORPHA:199318
1139	CHRNA7	HP:0000486	Strabismus	3/19	OMIM:612001
1139	CHRNA7	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:199318
1139	CHRNA7	HP:0000411	Protruding ear	HP:0040283	ORPHA:199318
1140	CHRNB1	HP:0002421	Poor head control	1/1	OMIM:616313
1140	CHRNB1	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0001252	Hypotonia	-	OMIM:616314
1140	CHRNB1	HP:0001252	Hypotonia	-	OMIM:616313
1140	CHRNB1	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0003803	Type 1 muscle fiber predominance	1/1	OMIM:616313
1140	CHRNB1	HP:0001371	Flexion contracture	1/1	OMIM:616313
1140	CHRNB1	HP:0025336	Delayed ability to sit	1/1	OMIM:616313
1140	CHRNB1	HP:0410011	Abnormality of masticatory muscle	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0001324	Muscle weakness	-	OMIM:616314
1140	CHRNB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616314
1140	CHRNB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616313
1140	CHRNB1	HP:0002650	Scoliosis	HP:0040283	ORPHA:98913
1140	CHRNB1	HP:0001319	Neonatal hypotonia	-	OMIM:616314
1140	CHRNB1	HP:0001319	Neonatal hypotonia	-	OMIM:616313
1140	CHRNB1	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0031108	Triceps weakness	HP:0040283	ORPHA:98913
1140	CHRNB1	HP:0001446	Abnormality of the musculature of the upper limbs	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:98913
1140	CHRNB1	HP:0002033	Poor suck	1/1	OMIM:616313
1140	CHRNB1	HP:0002093	Respiratory insufficiency	3/3	OMIM:616314
1140	CHRNB1	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:98913
1140	CHRNB1	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0003388	Easy fatigability	1/1	OMIM:616313
1140	CHRNB1	HP:0003473	Fatigable weakness	1/1	OMIM:616313
1140	CHRNB1	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0003443	Decreased size of nerve terminals	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0003402	Decreased miniature endplate potentials	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1/1	OMIM:616314
1140	CHRNB1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1/1	OMIM:616313
1140	CHRNB1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:98913
1140	CHRNB1	HP:0003577	Congenital onset	3/3	OMIM:616314
1140	CHRNB1	HP:0003577	Congenital onset	1/1	OMIM:616313
1140	CHRNB1	HP:0003555	Muscle fiber splitting	1/1	OMIM:616313
1140	CHRNB1	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:616313
1140	CHRNB1	HP:0011968	Feeding difficulties	3/3	OMIM:616314
1140	CHRNB1	HP:0010628	Facial palsy	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0010628	Facial palsy	-	OMIM:616313
1140	CHRNB1	HP:0003690	Limb muscle weakness	1/1	OMIM:616313
1140	CHRNB1	HP:0002329	Drowsiness	HP:0040283	ORPHA:98913
1140	CHRNB1	HP:0009077	Weakness of long finger extensor muscles	HP:0040283	ORPHA:98913
1140	CHRNB1	HP:0000651	Diplopia	HP:0040283	ORPHA:98913
1140	CHRNB1	HP:0000602	Ophthalmoplegia	1/1	OMIM:616313
1140	CHRNB1	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0005659	Thoracic kyphoscoliosis	HP:0040283	ORPHA:98913
1140	CHRNB1	HP:0031936	Delayed ability to walk	1/1	OMIM:616313
1140	CHRNB1	HP:0012764	Orthopnea	HP:0040283	ORPHA:98913
1140	CHRNB1	HP:0003198	Myopathy	-	OMIM:616314
1140	CHRNB1	HP:0003198	Myopathy	-	OMIM:616313
1140	CHRNB1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0003202	Skeletal muscle atrophy	1/1	OMIM:616313
1140	CHRNB1	HP:0000961	Cyanosis	HP:0040283	ORPHA:98913
1140	CHRNB1	HP:0000275	Narrow face	-	OMIM:616313
1140	CHRNB1	HP:0000276	Long face	1/1	OMIM:616313
1140	CHRNB1	HP:0006380	Knee flexion contracture	1/1	OMIM:616313
1140	CHRNB1	HP:0002878	Respiratory failure	HP:0040283	ORPHA:98913
1140	CHRNB1	HP:0000218	High palate	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0000218	High palate	1/1	OMIM:616313
1140	CHRNB1	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:98913
1140	CHRNB1	HP:0031374	Ankle weakness	HP:0040283	ORPHA:98913
1140	CHRNB1	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	0/1	OMIM:616314
1140	CHRNB1	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	0/2	OMIM:616313
1140	CHRNB1	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040283	ORPHA:98913
1140	CHRNB1	HP:0030199	Fatigable weakness of neck muscles	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0001620	Abnormally high-pitched voice	1/1	OMIM:616313
1140	CHRNB1	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0000508	Ptosis	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0000508	Ptosis	1/1	OMIM:616313
1140	CHRNB1	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:98913
1140	CHRNB1	HP:0012515	Hip flexor weakness	HP:0040283	ORPHA:98913
1141	CHRNB2	HP:0025237	Confusional arousal	HP:0040283	ORPHA:98784
1141	CHRNB2	HP:0025236	Somnambulism	HP:0040283	ORPHA:98784
1141	CHRNB2	HP:0025235	NREM parasomnia	HP:0040284	ORPHA:98784
1141	CHRNB2	HP:0001256	Intellectual disability, mild	HP:0040284	ORPHA:98784
1141	CHRNB2	HP:0001250	Seizure	-	OMIM:605375
1141	CHRNB2	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:98784
1141	CHRNB2	HP:0001345	Psychotic mentation	HP:0040284	ORPHA:98784
1141	CHRNB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:605375
1141	CHRNB2	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:98784
1141	CHRNB2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040284	ORPHA:98784
1141	CHRNB2	HP:0002268	Paroxysmal dystonia	HP:0040282	ORPHA:98784
1141	CHRNB2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040284	ORPHA:98784
1141	CHRNB2	HP:0031951	Nocturnal seizures	HP:0040281	ORPHA:98784
1141	CHRNB2	HP:0004305	Involuntary movements	HP:0040282	ORPHA:98784
1141	CHRNB2	HP:0000739	Anxiety	HP:0040283	ORPHA:98784
1141	CHRNB2	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:98784
1141	CHRNB2	HP:0000716	Depression	HP:0040283	ORPHA:98784
1141	CHRNB2	HP:0000708	Atypical behavior	HP:0040284	ORPHA:98784
1141	CHRNB2	HP:0002883	Hyperventilation	HP:0040283	ORPHA:98784
1141	CHRNB2	HP:0031535	Increased theta frequency activity in EEG	HP:0040283	ORPHA:98784
1141	CHRNB2	HP:0011193	EEG with focal spikes	HP:0040283	ORPHA:98784
1141	CHRNB2	HP:0011182	Interictal epileptiform activity	HP:0040283	ORPHA:98784
1141	CHRNB2	HP:0011174	Focal hyperkinetic seizure	HP:0040283	ORPHA:98784
1141	CHRNB2	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:98784
1144	CHRND	HP:0002421	Poor head control	1/1	OMIM:616321
1144	CHRND	HP:0003750	Increased muscle fatiguability	1/1	OMIM:616323
1144	CHRND	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:98913
1144	CHRND	HP:0001270	Motor delay	1/1	OMIM:616323
1144	CHRND	HP:0001252	Hypotonia	1/1	OMIM:616322
1144	CHRND	HP:0001252	Hypotonia	1/1	OMIM:616321
1144	CHRND	HP:0001252	Hypotonia	1/1	OMIM:616323
1144	CHRND	HP:0002505	Loss of ambulation	1/1	OMIM:616321
1144	CHRND	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:98913
1144	CHRND	HP:0001371	Flexion contracture	-	OMIM:253290
1144	CHRND	HP:0001373	Joint dislocation	-	OMIM:253290
1144	CHRND	HP:0025336	Delayed ability to sit	1/1	OMIM:616321
1144	CHRND	HP:0410011	Abnormality of masticatory muscle	HP:0040282	ORPHA:98913
1144	CHRND	HP:0002659	Increased susceptibility to fractures	-	OMIM:253290
1144	CHRND	HP:0001324	Muscle weakness	-	OMIM:616322
1144	CHRND	HP:0001324	Muscle weakness	HP:0040282	ORPHA:98913
1144	CHRND	HP:0000007	Autosomal recessive inheritance	-	OMIM:253290
1144	CHRND	HP:0000007	Autosomal recessive inheritance	-	OMIM:616322
1144	CHRND	HP:0000007	Autosomal recessive inheritance	-	OMIM:616323
1144	CHRND	HP:0000006	Autosomal dominant inheritance	-	OMIM:616321
1144	CHRND	HP:0002650	Scoliosis	HP:0040283	ORPHA:98913
1144	CHRND	HP:0001319	Neonatal hypotonia	-	OMIM:616322
1144	CHRND	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:98913
1144	CHRND	HP:0031108	Triceps weakness	HP:0040283	ORPHA:98913
1144	CHRND	HP:0000175	Cleft palate	-	OMIM:253290
1144	CHRND	HP:0001446	Abnormality of the musculature of the upper limbs	HP:0040282	ORPHA:98913
1144	CHRND	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:98913
1144	CHRND	HP:0002033	Poor suck	1/1	OMIM:616323
1144	CHRND	HP:0002015	Dysphagia	1/1	OMIM:616321
1144	CHRND	HP:0002015	Dysphagia	1/1	OMIM:616323
1144	CHRND	HP:0003324	Generalized muscle weakness	1/1	OMIM:616321
1144	CHRND	HP:0002089	Pulmonary hypoplasia	-	OMIM:253290
1144	CHRND	HP:0002093	Respiratory insufficiency	1/1	OMIM:616322
1144	CHRND	HP:0002093	Respiratory insufficiency	1/1	OMIM:616321
1144	CHRND	HP:0002093	Respiratory insufficiency	1/1	OMIM:616323
1144	CHRND	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:98913
1144	CHRND	HP:0002047	Malignant hyperthermia	-	OMIM:253290
1144	CHRND	HP:0003388	Easy fatigability	1/1	OMIM:616322
1144	CHRND	HP:0003388	Easy fatigability	1/1	OMIM:616321
1144	CHRND	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98913
1144	CHRND	HP:0005905	Abnormal cervical curvature	-	OMIM:253290
1144	CHRND	HP:0003473	Fatigable weakness	1/1	OMIM:616322
1144	CHRND	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:98913
1144	CHRND	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98913
1144	CHRND	HP:0003443	Decreased size of nerve terminals	HP:0040282	ORPHA:98913
1144	CHRND	HP:0003436	Prolonged miniature endplate currents	1/1	OMIM:616321
1144	CHRND	HP:0003402	Decreased miniature endplate potentials	HP:0040282	ORPHA:98913
1144	CHRND	HP:0003402	Decreased miniature endplate potentials	1/1	OMIM:616321
1144	CHRND	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1/1	OMIM:616321
1144	CHRND	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040282	ORPHA:98913
1144	CHRND	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:98913
1144	CHRND	HP:0003593	Infantile onset	-	OMIM:616322
1144	CHRND	HP:0003593	Infantile onset	1/1	OMIM:616321
1144	CHRND	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:98913
1144	CHRND	HP:0011968	Feeding difficulties	1/1	OMIM:616322
1144	CHRND	HP:0011968	Feeding difficulties	1/1	OMIM:616323
1144	CHRND	HP:0010628	Facial palsy	-	OMIM:616322
1144	CHRND	HP:0010628	Facial palsy	1/1	OMIM:616323
1144	CHRND	HP:0010628	Facial palsy	HP:0040282	ORPHA:98913
1144	CHRND	HP:0001040	Multiple pterygia	-	OMIM:253290
1144	CHRND	HP:0003676	Progressive	1/1	OMIM:616321
1144	CHRND	HP:0002329	Drowsiness	HP:0040283	ORPHA:98913
1144	CHRND	HP:0003623	Neonatal onset	1/1	OMIM:616323
1144	CHRND	HP:0002304	Akinesia	-	OMIM:253290
1144	CHRND	HP:0003634	Amyoplasia	-	OMIM:253290
1144	CHRND	HP:0009077	Weakness of long finger extensor muscles	HP:0040283	ORPHA:98913
1144	CHRND	HP:0001961	Hypoplastic heart	-	OMIM:253290
1144	CHRND	HP:0000651	Diplopia	HP:0040283	ORPHA:98913
1144	CHRND	HP:0000602	Ophthalmoplegia	1/1	OMIM:616322
1144	CHRND	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040282	ORPHA:98913
1144	CHRND	HP:0001989	Fetal akinesia sequence	-	OMIM:253290
1144	CHRND	HP:0001999	Abnormal facial shape	-	OMIM:253290
1144	CHRND	HP:0005659	Thoracic kyphoscoliosis	HP:0040283	ORPHA:98913
1144	CHRND	HP:0012764	Orthopnea	HP:0040283	ORPHA:98913
1144	CHRND	HP:0000883	Thin ribs	-	OMIM:253290
1144	CHRND	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:98913
1144	CHRND	HP:0000969	Edema	-	OMIM:253290
1144	CHRND	HP:0000961	Cyanosis	HP:0040283	ORPHA:98913
1144	CHRND	HP:0009381	Short finger	-	OMIM:253290
1144	CHRND	HP:0000286	Epicanthus	-	OMIM:253290
1144	CHRND	HP:0002878	Respiratory failure	HP:0040283	ORPHA:98913
1144	CHRND	HP:0000218	High palate	-	OMIM:616322
1144	CHRND	HP:0000218	High palate	1/1	OMIM:616323
1144	CHRND	HP:0000218	High palate	HP:0040282	ORPHA:98913
1144	CHRND	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:98913
1144	CHRND	HP:0001561	Polyhydramnios	-	OMIM:253290
1144	CHRND	HP:0001558	Decreased fetal movement	HP:0040283	OMIM:616322
1144	CHRND	HP:0031374	Ankle weakness	HP:0040283	ORPHA:98913
1144	CHRND	HP:0001511	Intrauterine growth retardation	-	OMIM:253290
1144	CHRND	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	0/1	OMIM:616323
1144	CHRND	HP:0002948	Vertebral fusion	-	OMIM:253290
1144	CHRND	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040283	ORPHA:98913
1144	CHRND	HP:0001612	Weak cry	1/1	OMIM:616322
1144	CHRND	HP:0030199	Fatigable weakness of neck muscles	HP:0040282	ORPHA:98913
1144	CHRND	HP:0000369	Low-set ears	-	OMIM:253290
1144	CHRND	HP:0000347	Micrognathia	-	OMIM:253290
1144	CHRND	HP:0000316	Hypertelorism	-	OMIM:253290
1144	CHRND	HP:0030319	Weakness of facial musculature	1/1	OMIM:616323
1144	CHRND	HP:0000476	Cystic hygroma	-	OMIM:253290
1144	CHRND	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:98913
1144	CHRND	HP:0000457	Depressed nasal ridge	-	OMIM:253290
1144	CHRND	HP:0000467	Neck muscle weakness	-	OMIM:616322
1144	CHRND	HP:0000508	Ptosis	1/1	OMIM:616322
1144	CHRND	HP:0000508	Ptosis	1/1	OMIM:616321
1144	CHRND	HP:0000508	Ptosis	1/1	OMIM:616323
1144	CHRND	HP:0000508	Ptosis	HP:0040282	ORPHA:98913
1144	CHRND	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:98913
1144	CHRND	HP:0012515	Hip flexor weakness	HP:0040283	ORPHA:98913
1145	CHRNE	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0001290	Generalized hypotonia	-	OMIM:608931
1145	CHRNE	HP:0001290	Generalized hypotonia	-	OMIM:605809
1145	CHRNE	HP:0001270	Motor delay	-	OMIM:608931
1145	CHRNE	HP:0001283	Bulbar palsy	-	OMIM:605809
1145	CHRNE	HP:0001252	Hypotonia	-	OMIM:608931
1145	CHRNE	HP:0001252	Hypotonia	-	OMIM:616324
1145	CHRNE	HP:0001260	Dysarthria	-	OMIM:608931
1145	CHRNE	HP:0003828	Variable expressivity	-	OMIM:608931
1145	CHRNE	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0008872	Feeding difficulties in infancy	-	OMIM:605809
1145	CHRNE	HP:0410011	Abnormality of masticatory muscle	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0001324	Muscle weakness	-	OMIM:616324
1145	CHRNE	HP:0001324	Muscle weakness	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0000007	Autosomal recessive inheritance	-	OMIM:608931
1145	CHRNE	HP:0000007	Autosomal recessive inheritance	-	OMIM:605809
1145	CHRNE	HP:0000007	Autosomal recessive inheritance	-	OMIM:616324
1145	CHRNE	HP:0000006	Autosomal dominant inheritance	-	OMIM:605809
1145	CHRNE	HP:0002650	Scoliosis	HP:0040283	ORPHA:98913
1145	CHRNE	HP:0001319	Neonatal hypotonia	-	OMIM:616324
1145	CHRNE	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0031108	Triceps weakness	HP:0040283	ORPHA:98913
1145	CHRNE	HP:0001446	Abnormality of the musculature of the upper limbs	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:98913
1145	CHRNE	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:608931
1145	CHRNE	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:605809
1145	CHRNE	HP:0002033	Poor suck	-	OMIM:605809
1145	CHRNE	HP:0002015	Dysphagia	-	OMIM:608931
1145	CHRNE	HP:0002015	Dysphagia	-	OMIM:605809
1145	CHRNE	HP:0002098	Respiratory distress	-	OMIM:605809
1145	CHRNE	HP:0002093	Respiratory insufficiency	-	OMIM:616324
1145	CHRNE	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:98913
1145	CHRNE	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	-	OMIM:605809
1145	CHRNE	HP:0003394	Muscle spasm	-	OMIM:608931
1145	CHRNE	HP:0003391	Gowers sign	-	OMIM:608931
1145	CHRNE	HP:0003388	Easy fatigability	-	OMIM:608931
1145	CHRNE	HP:0003388	Easy fatigability	-	OMIM:616324
1145	CHRNE	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0003388	Easy fatigability	-	OMIM:605809
1145	CHRNE	HP:0003473	Fatigable weakness	20/20	OMIM:608931
1145	CHRNE	HP:0003473	Fatigable weakness	-	OMIM:605809
1145	CHRNE	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0003443	Decreased size of nerve terminals	-	OMIM:608931
1145	CHRNE	HP:0003443	Decreased size of nerve terminals	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0003402	Decreased miniature endplate potentials	-	OMIM:605809
1145	CHRNE	HP:0003402	Decreased miniature endplate potentials	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1/1	OMIM:608931
1145	CHRNE	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1/1	OMIM:605809
1145	CHRNE	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	4/4	OMIM:616324
1145	CHRNE	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:98913
1145	CHRNE	HP:0003593	Infantile onset	-	OMIM:608931
1145	CHRNE	HP:0003593	Infantile onset	4/4	OMIM:616324
1145	CHRNE	HP:0003577	Congenital onset	2/2	OMIM:616324
1145	CHRNE	HP:0003577	Congenital onset	-	OMIM:605809
1145	CHRNE	HP:0003554	Type 2 muscle fiber atrophy	-	OMIM:608931
1145	CHRNE	HP:0003554	Type 2 muscle fiber atrophy	-	OMIM:605809
1145	CHRNE	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0011968	Feeding difficulties	-	OMIM:608931
1145	CHRNE	HP:0011968	Feeding difficulties	-	OMIM:616324
1145	CHRNE	HP:0010628	Facial palsy	-	OMIM:608931
1145	CHRNE	HP:0010628	Facial palsy	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0003690	Limb muscle weakness	-	OMIM:605809
1145	CHRNE	HP:0003680	Nonprogressive	-	OMIM:608931
1145	CHRNE	HP:0002329	Drowsiness	HP:0040283	ORPHA:98913
1145	CHRNE	HP:0003623	Neonatal onset	1/1	OMIM:605809
1145	CHRNE	HP:0009077	Weakness of long finger extensor muscles	HP:0040283	ORPHA:98913
1145	CHRNE	HP:0000651	Diplopia	HP:0040283	ORPHA:98913
1145	CHRNE	HP:0000602	Ophthalmoplegia	4/4	OMIM:616324
1145	CHRNE	HP:0000689	Dental malocclusion	-	OMIM:608931
1145	CHRNE	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0005659	Thoracic kyphoscoliosis	HP:0040283	ORPHA:98913
1145	CHRNE	HP:0011463	Childhood onset	1/1	OMIM:608931
1145	CHRNE	HP:0012764	Orthopnea	HP:0040283	ORPHA:98913
1145	CHRNE	HP:0003198	Myopathy	-	OMIM:605809
1145	CHRNE	HP:0003199	Decreased muscle mass	-	OMIM:608931
1145	CHRNE	HP:0003202	Skeletal muscle atrophy	-	OMIM:608931
1145	CHRNE	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0000961	Cyanosis	HP:0040283	ORPHA:98913
1145	CHRNE	HP:0000276	Long face	-	OMIM:608931
1145	CHRNE	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:608931
1145	CHRNE	HP:0002882	Sudden episodic apnea	-	OMIM:605809
1145	CHRNE	HP:0002878	Respiratory failure	HP:0040283	ORPHA:98913
1145	CHRNE	HP:0000218	High palate	-	OMIM:608931
1145	CHRNE	HP:0000218	High palate	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:98913
1145	CHRNE	HP:0001558	Decreased fetal movement	-	OMIM:608931
1145	CHRNE	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	-	OMIM:605809
1145	CHRNE	HP:0031374	Ankle weakness	HP:0040283	ORPHA:98913
1145	CHRNE	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	0/4	OMIM:616324
1145	CHRNE	HP:0030197	Fatigable weakness of skeletal muscles	2/2	OMIM:616324
1145	CHRNE	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040283	ORPHA:98913
1145	CHRNE	HP:0001612	Weak cry	-	OMIM:608931
1145	CHRNE	HP:0001612	Weak cry	-	OMIM:605809
1145	CHRNE	HP:0030199	Fatigable weakness of neck muscles	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0000303	Mandibular prognathia	-	OMIM:608931
1145	CHRNE	HP:0030319	Weakness of facial musculature	4/4	OMIM:616324
1145	CHRNE	HP:0000486	Strabismus	-	OMIM:608931
1145	CHRNE	HP:0000486	Strabismus	-	OMIM:605809
1145	CHRNE	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0000467	Neck muscle weakness	-	OMIM:616324
1145	CHRNE	HP:0000508	Ptosis	1/1	OMIM:608931
1145	CHRNE	HP:0000508	Ptosis	-	OMIM:616324
1145	CHRNE	HP:0000508	Ptosis	-	OMIM:605809
1145	CHRNE	HP:0000508	Ptosis	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0000597	Ophthalmoparesis	1/1	OMIM:608931
1145	CHRNE	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:98913
1145	CHRNE	HP:0000597	Ophthalmoparesis	-	OMIM:605809
1145	CHRNE	HP:0012515	Hip flexor weakness	HP:0040283	ORPHA:98913
1146	CHRNG	HP:0001166	Arachnodactyly	10/11	OMIM:265000
1146	CHRNG	HP:0001159	Syndactyly	-	OMIM:265000
1146	CHRNG	HP:0003764	Nevus	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0001288	Gait disturbance	1/3	OMIM:265000
1146	CHRNG	HP:0001288	Gait disturbance	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0001249	Intellectual disability	0/3	OMIM:265000
1146	CHRNG	HP:0002557	Hypoplastic nipples	-	OMIM:265000
1146	CHRNG	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:2990
1146	CHRNG	HP:0008729	Absence of labia majora	-	OMIM:265000
1146	CHRNG	HP:0008729	Absence of labia majora	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0008807	Acetabular dysplasia	1/3	OMIM:265000
1146	CHRNG	HP:0000046	Small scrotum	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:2990
1146	CHRNG	HP:0001371	Flexion contracture	1/3	OMIM:265000
1146	CHRNG	HP:0001371	Flexion contracture	-	OMIM:253290
1146	CHRNG	HP:0001373	Joint dislocation	-	OMIM:253290
1146	CHRNG	HP:0000047	Hypospadias	-	OMIM:265000
1146	CHRNG	HP:0000023	Inguinal hernia	-	OMIM:265000
1146	CHRNG	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0000028	Cryptorchidism	5/5	OMIM:265000
1146	CHRNG	HP:0002659	Increased susceptibility to fractures	-	OMIM:253290
1146	CHRNG	HP:0000007	Autosomal recessive inheritance	-	OMIM:253290
1146	CHRNG	HP:0000007	Autosomal recessive inheritance	-	OMIM:265000
1146	CHRNG	HP:0002650	Scoliosis	HP:0040281	ORPHA:2990
1146	CHRNG	HP:0002650	Scoliosis	8/13	OMIM:265000
1146	CHRNG	HP:0002643	Neonatal respiratory distress	4/11	OMIM:265000
1146	CHRNG	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0000160	Narrow mouth	2/3	OMIM:265000
1146	CHRNG	HP:0001488	Bilateral ptosis	1/3	OMIM:265000
1146	CHRNG	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0000175	Cleft palate	1/10	OMIM:265000
1146	CHRNG	HP:0000175	Cleft palate	-	OMIM:253290
1146	CHRNG	HP:0000175	Cleft palate	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0000135	Hypogonadism	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0002714	Downturned corners of mouth	2/2	OMIM:265000
1146	CHRNG	HP:0002089	Pulmonary hypoplasia	-	OMIM:265000
1146	CHRNG	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0002089	Pulmonary hypoplasia	-	OMIM:253290
1146	CHRNG	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0002047	Malignant hyperthermia	-	OMIM:253290
1146	CHRNG	HP:0009465	Ulnar deviation of finger	1/3	OMIM:265000
1146	CHRNG	HP:0005905	Abnormal cervical curvature	-	OMIM:253290
1146	CHRNG	HP:0003422	Vertebral segmentation defect	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0002162	Low posterior hairline	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0011842	Abnormal skeletal morphology	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0001060	Axillary pterygium	-	OMIM:265000
1146	CHRNG	HP:0001060	Axillary pterygium	HP:0040281	ORPHA:2990
1146	CHRNG	HP:0001059	Pterygium	11/11	OMIM:265000
1146	CHRNG	HP:0001059	Pterygium	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0001040	Multiple pterygia	-	OMIM:253290
1146	CHRNG	HP:0001040	Multiple pterygia	HP:0040281	ORPHA:2990
1146	CHRNG	HP:0200021	Down-sloping shoulders	2/3	OMIM:265000
1146	CHRNG	HP:0009773	Symphalangism affecting the phalanges of the hand	HP:0040281	ORPHA:2990
1146	CHRNG	HP:0009760	Antecubital pterygium	-	OMIM:265000
1146	CHRNG	HP:0009760	Antecubital pterygium	HP:0040281	ORPHA:2990
1146	CHRNG	HP:0009761	Anterior clefting of vertebral bodies	-	OMIM:265000
1146	CHRNG	HP:0009757	Intercrural pterygium	-	OMIM:265000
1146	CHRNG	HP:0009756	Popliteal pterygium	-	OMIM:265000
1146	CHRNG	HP:0009756	Popliteal pterygium	HP:0040281	ORPHA:2990
1146	CHRNG	HP:0009759	Neck pterygia	-	OMIM:265000
1146	CHRNG	HP:0002304	Akinesia	-	OMIM:253290
1146	CHRNG	HP:0003634	Amyoplasia	-	OMIM:253290
1146	CHRNG	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0001961	Hypoplastic heart	-	OMIM:253290
1146	CHRNG	HP:0000689	Dental malocclusion	2/3	OMIM:265000
1146	CHRNG	HP:0001989	Fetal akinesia sequence	-	OMIM:253290
1146	CHRNG	HP:0001999	Abnormal facial shape	-	OMIM:253290
1146	CHRNG	HP:0004322	Short stature	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0004322	Short stature	10/12	OMIM:265000
1146	CHRNG	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0003083	Dislocated radial head	-	OMIM:265000
1146	CHRNG	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:2990
1146	CHRNG	HP:0000766	Abnormal sternum morphology	HP:0040281	ORPHA:2990
1146	CHRNG	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0011461	Fetal onset	14/14	OMIM:265000
1146	CHRNG	HP:0000776	Congenital diaphragmatic hernia	-	OMIM:265000
1146	CHRNG	HP:0009110	Diaphragmatic eventration	-	OMIM:265000
1146	CHRNG	HP:0000902	Rib fusion	-	OMIM:265000
1146	CHRNG	HP:0000902	Rib fusion	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0004459	Exostosis of the external auditory canal	-	OMIM:265000
1146	CHRNG	HP:0000890	Long clavicles	-	OMIM:265000
1146	CHRNG	HP:0000883	Thin ribs	-	OMIM:253290
1146	CHRNG	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0000969	Edema	-	OMIM:253290
1146	CHRNG	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0009381	Short finger	-	OMIM:253290
1146	CHRNG	HP:0000286	Epicanthus	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0000286	Epicanthus	-	OMIM:265000
1146	CHRNG	HP:0000286	Epicanthus	-	OMIM:253290
1146	CHRNG	HP:0000276	Long face	-	OMIM:265000
1146	CHRNG	HP:0000276	Long face	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0006443	Patellar aplasia	-	OMIM:265000
1146	CHRNG	HP:0006446	Dysplastic patella	-	OMIM:265000
1146	CHRNG	HP:0002827	Hip dislocation	-	OMIM:265000
1146	CHRNG	HP:0002828	Multiple joint contractures	2/3	OMIM:265000
1146	CHRNG	HP:0002808	Kyphosis	7/10	OMIM:265000
1146	CHRNG	HP:0002804	Arthrogryposis multiplex congenita	12/12	OMIM:265000
1146	CHRNG	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0006380	Knee flexion contracture	3/3	OMIM:265000
1146	CHRNG	HP:0000252	Microcephaly	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0000218	High palate	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0000218	High palate	11/12	OMIM:265000
1146	CHRNG	HP:0001561	Polyhydramnios	-	OMIM:253290
1146	CHRNG	HP:0001558	Decreased fetal movement	3/3	OMIM:265000
1146	CHRNG	HP:0001537	Umbilical hernia	-	OMIM:265000
1146	CHRNG	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0000207	Triangular mouth	1/3	OMIM:265000
1146	CHRNG	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0001511	Intrauterine growth retardation	-	OMIM:253290
1146	CHRNG	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0012385	Camptodactyly	3/3	OMIM:265000
1146	CHRNG	HP:0002948	Vertebral fusion	-	OMIM:253290
1146	CHRNG	HP:0002949	Fused cervical vertebrae	-	OMIM:265000
1146	CHRNG	HP:0002944	Thoracolumbar scoliosis	1/3	OMIM:265000
1146	CHRNG	HP:0000365	Hearing impairment	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0000369	Low-set ears	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0000369	Low-set ears	1/3	OMIM:265000
1146	CHRNG	HP:0000369	Low-set ears	-	OMIM:253290
1146	CHRNG	HP:0000343	Long philtrum	-	OMIM:265000
1146	CHRNG	HP:0000343	Long philtrum	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0000347	Micrognathia	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0000347	Micrognathia	2/3	OMIM:265000
1146	CHRNG	HP:0000347	Micrognathia	-	OMIM:253290
1146	CHRNG	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0000316	Hypertelorism	-	OMIM:265000
1146	CHRNG	HP:0000316	Hypertelorism	-	OMIM:253290
1146	CHRNG	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0000307	Pointed chin	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0030319	Weakness of facial musculature	5/9	OMIM:265000
1146	CHRNG	HP:0000405	Conductive hearing impairment	-	OMIM:265000
1146	CHRNG	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0000486	Strabismus	HP:0040283	ORPHA:2990
1146	CHRNG	HP:0000476	Cystic hygroma	-	OMIM:253290
1146	CHRNG	HP:0000494	Downslanted palpebral fissures	2/2	OMIM:265000
1146	CHRNG	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0000492	Abnormal eyelid morphology	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0001789	Hydrops fetalis	0/3	OMIM:265000
1146	CHRNG	HP:0000457	Depressed nasal ridge	-	OMIM:253290
1146	CHRNG	HP:0000470	Short neck	2/3	OMIM:265000
1146	CHRNG	HP:0000465	Webbed neck	HP:0040281	ORPHA:2990
1146	CHRNG	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0001762	Talipes equinovarus	-	OMIM:265000
1146	CHRNG	HP:0001838	Rocker bottom foot	12/13	OMIM:265000
1146	CHRNG	HP:0000506	Telecanthus	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0000508	Ptosis	HP:0040282	ORPHA:2990
1146	CHRNG	HP:0000508	Ptosis	2/2	OMIM:265000
1146	CHRNG	HP:0001836	Camptodactyly of toe	-	OMIM:265000
1146	CHRNG	HP:0001884	Talipes calcaneovalgus	-	OMIM:265000
1147	CHUK	HP:0000085	Horseshoe kidney	1/2	OMIM:613630
1147	CHUK	HP:0000007	Autosomal recessive inheritance	-	OMIM:619339
1147	CHUK	HP:0000007	Autosomal recessive inheritance	-	OMIM:613630
1147	CHUK	HP:0000191	Accessory oral frenulum	1/1	OMIM:619339
1147	CHUK	HP:0011861	Bilateral trilobed lung	2/2	OMIM:613630
1147	CHUK	HP:0003577	Congenital onset	1/1	OMIM:619339
1147	CHUK	HP:0001060	Axillary pterygium	1/1	OMIM:619339
1147	CHUK	HP:0009816	Lower limb undergrowth	2/2	OMIM:613630
1147	CHUK	HP:0009824	Upper limb undergrowth	2/2	OMIM:613630
1147	CHUK	HP:0200055	Small hand	1/1	OMIM:619339
1147	CHUK	HP:0009760	Antecubital pterygium	1/1	OMIM:619339
1147	CHUK	HP:0009755	Ankyloblepharon	1/1	OMIM:619339
1147	CHUK	HP:0009756	Popliteal pterygium	1/1	OMIM:619339
1147	CHUK	HP:0005650	2-5 finger cutaneous syndactyly	1/1	OMIM:619339
1147	CHUK	HP:0011461	Fetal onset	2/2	OMIM:613630
1147	CHUK	HP:0000776	Congenital diaphragmatic hernia	1/2	OMIM:613630
1147	CHUK	HP:0100336	Bilateral cleft lip	1/1	OMIM:619339
1147	CHUK	HP:0100337	Bilateral cleft palate	1/1	OMIM:619339
1147	CHUK	HP:0000963	Thin skin	2/2	OMIM:613630
1147	CHUK	HP:0005807	Absent distal phalanges	1/1	OMIM:619339
1147	CHUK	HP:0000260	Wide anterior fontanel	1/1	OMIM:619339
1147	CHUK	HP:0000269	Prominent occiput	1/1	OMIM:619339
1147	CHUK	HP:0033984	Increased urinary 8-oxo-7,8-dihydroguanosine level	2/2	OMIM:613630
1147	CHUK	HP:0001558	Decreased fetal movement	2/2	OMIM:613630
1147	CHUK	HP:0001539	Omphalocele	2/2	OMIM:613630
1147	CHUK	HP:0000396	Overfolded helix	1/1	OMIM:619339
1147	CHUK	HP:0000369	Low-set ears	1/1	OMIM:619339
1147	CHUK	HP:0000347	Micrognathia	1/1	OMIM:619339
1147	CHUK	HP:0001636	Tetralogy of Fallot	1/2	OMIM:613630
1147	CHUK	HP:0007957	Corneal opacity	1/1	OMIM:619339
1147	CHUK	HP:0000568	Microphthalmia	1/1	OMIM:619339
1161	ERCC8	HP:0002461	Cerebellar dentate nucleus calcification	HP:0040281	ORPHA:90324
1161	ERCC8	HP:0001105	Retinal atrophy	HP:0040284	ORPHA:90324
1161	ERCC8	HP:0001105	Retinal atrophy	1/2	OMIM:216400
1161	ERCC8	HP:0002446	Astrocytosis	HP:0040281	ORPHA:90324
1161	ERCC8	HP:0008615	Adult onset sensorineural hearing impairment	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0032263	Increased blood pressure	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:216400
1161	ERCC8	HP:0001297	Stroke	HP:0040284	ORPHA:90324
1161	ERCC8	HP:0001272	Cerebellar atrophy	7/10	OMIM:216400
1161	ERCC8	HP:0001271	Polyneuropathy	-	OMIM:216400
1161	ERCC8	HP:0001288	Gait disturbance	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0001288	Gait disturbance	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0001288	Gait disturbance	HP:0040282	ORPHA:90322
1161	ERCC8	HP:0001288	Gait disturbance	-	OMIM:216400
1161	ERCC8	HP:0001284	Areflexia	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0001250	Seizure	1/2	OMIM:216400
1161	ERCC8	HP:0001250	Seizure	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0001250	Seizure	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0001252	Hypotonia	1/1	OMIM:216400
1161	ERCC8	HP:0001252	Hypotonia	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0001251	Ataxia	-	OMIM:216400
1161	ERCC8	HP:0001251	Ataxia	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0001251	Ataxia	HP:0040282	ORPHA:90322
1161	ERCC8	HP:0001249	Intellectual disability	1/2	OMIM:216400
1161	ERCC8	HP:0001249	Intellectual disability	HP:0040281	ORPHA:90321
1161	ERCC8	HP:0001249	Intellectual disability	HP:0040281	ORPHA:90322
1161	ERCC8	HP:0001260	Dysarthria	-	OMIM:216400
1161	ERCC8	HP:0001263	Global developmental delay	7/7	OMIM:216400
1161	ERCC8	HP:0007346	Subcortical white matter calcifications	HP:0040281	ORPHA:90324
1161	ERCC8	HP:0007346	Subcortical white matter calcifications	HP:0040281	ORPHA:90322
1161	ERCC8	HP:0002545	Patchy demyelination of subcortical white matter	-	OMIM:216400
1161	ERCC8	HP:0002545	Patchy demyelination of subcortical white matter	HP:0040281	ORPHA:90322
1161	ERCC8	HP:0002509	Limb hypertonia	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0000089	Renal hypoplasia	HP:0040284	ORPHA:90324
1161	ERCC8	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0000083	Renal insufficiency	-	OMIM:216400
1161	ERCC8	HP:0000093	Proteinuria	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0000093	Proteinuria	-	OMIM:216400
1161	ERCC8	HP:0000072	Hydroureter	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0001376	Limitation of joint mobility	-	OMIM:216400
1161	ERCC8	HP:0001371	Flexion contracture	HP:0040284	ORPHA:90324
1161	ERCC8	HP:0001371	Flexion contracture	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0000054	Micropenis	-	OMIM:216400
1161	ERCC8	HP:0002684	Thickened calvaria	-	OMIM:216400
1161	ERCC8	HP:0000016	Urinary retention	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0000026	Male hypogonadism	HP:0040284	ORPHA:90321
1161	ERCC8	HP:0000026	Male hypogonadism	HP:0040284	ORPHA:90322
1161	ERCC8	HP:0000028	Cryptorchidism	1/1	OMIM:216400
1161	ERCC8	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:90321
1161	ERCC8	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:90322
1161	ERCC8	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:90321
1161	ERCC8	HP:0008897	Postnatal growth retardation	1/1	OMIM:216400
1161	ERCC8	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0008850	Severe postnatal growth retardation	-	OMIM:216400
1161	ERCC8	HP:0008839	Hypoplastic pelvis	-	OMIM:216400
1161	ERCC8	HP:0007495	Prematurely aged appearance	-	OMIM:216400
1161	ERCC8	HP:0001324	Muscle weakness	-	OMIM:216400
1161	ERCC8	HP:0000011	Neurogenic bladder	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0000007	Autosomal recessive inheritance	-	OMIM:216400
1161	ERCC8	HP:0000007	Autosomal recessive inheritance	-	OMIM:614621
1161	ERCC8	HP:0001337	Tremor	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0001337	Tremor	-	OMIM:216400
1161	ERCC8	HP:0002650	Scoliosis	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0002650	Scoliosis	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0002650	Scoliosis	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0002616	Aortic root aneurysm	HP:0040284	ORPHA:90324
1161	ERCC8	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0000135	Hypogonadism	-	OMIM:216400
1161	ERCC8	HP:0001480	Freckling	1/1	OMIM:614621
1161	ERCC8	HP:0006334	Hypoplasia of the primary teeth	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0006334	Hypoplasia of the primary teeth	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0006313	Widely spaced primary teeth	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0006313	Widely spaced primary teeth	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0006297	Enamel hypoplasia	2/2	OMIM:216400
1161	ERCC8	HP:0000122	Unilateral renal agenesis	HP:0040284	ORPHA:90324
1161	ERCC8	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0003357	Thymic hormone decreased	-	OMIM:216400
1161	ERCC8	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0002014	Diarrhea	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0002080	Intention tremor	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0002059	Cerebral atrophy	6/8	OMIM:216400
1161	ERCC8	HP:0010472	Abnormal circulating porphyrin concentration	0/1	OMIM:614621
1161	ERCC8	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0003469	Peripheral dysmyelination	-	OMIM:216400
1161	ERCC8	HP:0002119	Ventriculomegaly	8/10	OMIM:216400
1161	ERCC8	HP:0002135	Basal ganglia calcification	HP:0040281	ORPHA:90324
1161	ERCC8	HP:0002135	Basal ganglia calcification	HP:0040281	ORPHA:90321
1161	ERCC8	HP:0002135	Basal ganglia calcification	3/8	OMIM:216400
1161	ERCC8	HP:0002172	Postural instability	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0002172	Postural instability	HP:0040282	ORPHA:90322
1161	ERCC8	HP:0003593	Infantile onset	3/4	OMIM:216400
1161	ERCC8	HP:0003593	Infantile onset	1/1	OMIM:614621
1161	ERCC8	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0002240	Hepatomegaly	-	OMIM:216400
1161	ERCC8	HP:0002216	Premature graying of hair	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0008366	Foot joint contracture	HP:0040281	ORPHA:90321
1161	ERCC8	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0003510	Severe short stature	9/9	OMIM:216400
1161	ERCC8	HP:0001034	Hypermelanotic macule	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0001034	Hypermelanotic macule	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0002344	Progressive neurologic deterioration	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0002343	Normal pressure hydrocephalus	-	OMIM:216400
1161	ERCC8	HP:0002317	Unsteady gait	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0001000	Abnormality of skin pigmentation	-	OMIM:216400
1161	ERCC8	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0001097	Keratoconjunctivitis sicca	HP:0040284	ORPHA:90324
1161	ERCC8	HP:0100699	Scarring	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0100699	Scarring	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0007108	Demyelinating peripheral neuropathy	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0004934	Vascular calcification	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0000639	Nystagmus	-	OMIM:216400
1161	ERCC8	HP:0000639	Nystagmus	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0000639	Nystagmus	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0000639	Nystagmus	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0000633	Decreased lacrimation	-	OMIM:216400
1161	ERCC8	HP:0000633	Decreased lacrimation	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0000649	Abnormality of visual evoked potentials	-	OMIM:216400
1161	ERCC8	HP:0000648	Optic atrophy	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0000648	Optic atrophy	-	OMIM:216400
1161	ERCC8	HP:0000613	Photophobia	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0000613	Photophobia	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0000613	Photophobia	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0001903	Anemia	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0011359	Dry hair	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0011359	Dry hair	-	OMIM:216400
1161	ERCC8	HP:0000680	Delayed eruption of primary teeth	-	OMIM:216400
1161	ERCC8	HP:0000680	Delayed eruption of primary teeth	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0000680	Delayed eruption of primary teeth	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0000674	Anodontia	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0000674	Anodontia	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0000689	Dental malocclusion	-	OMIM:216400
1161	ERCC8	HP:0000685	Hypoplasia of teeth	-	OMIM:216400
1161	ERCC8	HP:0000670	Carious teeth	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0000670	Carious teeth	7/9	OMIM:216400
1161	ERCC8	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:90321
1161	ERCC8	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:90322
1161	ERCC8	HP:0004322	Short stature	10/10	OMIM:216400
1161	ERCC8	HP:0004302	Functional motor deficit	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0006958	Abnormal auditory evoked potentials	-	OMIM:216400
1161	ERCC8	HP:0004370	Abnormality of temperature regulation	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0000762	Decreased nerve conduction velocity	-	OMIM:216400
1161	ERCC8	HP:0000726	Dementia	-	OMIM:216400
1161	ERCC8	HP:0011461	Fetal onset	1/2	OMIM:216400
1161	ERCC8	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:90322
1161	ERCC8	HP:0012762	Cerebral white matter atrophy	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0100309	Subdural hemorrhage	HP:0040284	ORPHA:90324
1161	ERCC8	HP:0003134	Abnormality of peripheral nerve conduction	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0003134	Abnormality of peripheral nerve conduction	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0004463	Absent brainstem auditory responses	HP:0040281	ORPHA:90321
1161	ERCC8	HP:0003130	Abnormal peripheral myelination	-	OMIM:216400
1161	ERCC8	HP:0003138	Increased blood urea nitrogen	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0011527	Lentiglobus	HP:0040284	ORPHA:90324
1161	ERCC8	HP:0000858	Irregular menstruation	-	OMIM:216400
1161	ERCC8	HP:0012804	Corneal ulceration	HP:0040284	ORPHA:90324
1161	ERCC8	HP:0000822	Hypertension	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0000822	Hypertension	-	OMIM:216400
1161	ERCC8	HP:0010234	Ivory epiphyses of the phalanges of the hand	-	OMIM:216400
1161	ERCC8	HP:0003224	Increased cellular sensitivity to UV light	-	OMIM:614621
1161	ERCC8	HP:0003224	Increased cellular sensitivity to UV light	-	OMIM:216400
1161	ERCC8	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0034392	Joint contracture	8/8	OMIM:216400
1161	ERCC8	HP:0003278	Square pelvis bone	-	OMIM:216400
1161	ERCC8	HP:0003273	Hip contracture	1/2	OMIM:216400
1161	ERCC8	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:90321
1161	ERCC8	HP:0000992	Cutaneous photosensitivity	8/9	OMIM:216400
1161	ERCC8	HP:0000992	Cutaneous photosensitivity	1/1	OMIM:614621
1161	ERCC8	HP:0000987	Atypical scarring of skin	-	OMIM:216400
1161	ERCC8	HP:0000958	Dry skin	-	OMIM:216400
1161	ERCC8	HP:0000970	Anhidrosis	-	OMIM:216400
1161	ERCC8	HP:0000966	Hypohidrosis	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0008070	Sparse hair	-	OMIM:216400
1161	ERCC8	HP:0011675	Arrhythmia	-	OMIM:216400
1161	ERCC8	HP:0000292	Loss of facial adipose tissue	-	OMIM:216400
1161	ERCC8	HP:0000276	Long face	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0000276	Long face	HP:0040282	ORPHA:90322
1161	ERCC8	HP:0007759	Opacification of the corneal stroma	-	OMIM:216400
1161	ERCC8	HP:0002808	Kyphosis	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0002808	Kyphosis	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0002808	Kyphosis	-	OMIM:216400
1161	ERCC8	HP:0000253	Progressive microcephaly	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0000252	Microcephaly	11/12	OMIM:216400
1161	ERCC8	HP:0001530	Mild postnatal growth retardation	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0002866	Hypoplastic iliac wing	-	OMIM:216400
1161	ERCC8	HP:0001508	Failure to thrive	8/8	OMIM:216400
1161	ERCC8	HP:0001508	Failure to thrive	HP:0040281	ORPHA:90321
1161	ERCC8	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:90322
1161	ERCC8	HP:0001511	Intrauterine growth retardation	1/2	OMIM:216400
1161	ERCC8	HP:0007814	Retinal pigment epithelial mottling	17/18	OMIM:216400
1161	ERCC8	HP:0000377	Abnormal pinna morphology	-	OMIM:216400
1161	ERCC8	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:90321
1161	ERCC8	HP:0005181	Premature coronary artery atherosclerosis	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0000365	Hearing impairment	HP:0040281	ORPHA:90321
1161	ERCC8	HP:0000365	Hearing impairment	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0000331	Short chin	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0000331	Short chin	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0000331	Short chin	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:90324
1161	ERCC8	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:90322
1161	ERCC8	HP:0000303	Mandibular prognathia	-	OMIM:216400
1161	ERCC8	HP:0005301	Persistent left superior vena cava	1/2	OMIM:216400
1161	ERCC8	HP:0005328	Progeroid facial appearance	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0005328	Progeroid facial appearance	HP:0040282	ORPHA:90322
1161	ERCC8	HP:0005328	Progeroid facial appearance	-	OMIM:216400
1161	ERCC8	HP:0000407	Sensorineural hearing impairment	8/8	OMIM:216400
1161	ERCC8	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0000400	Macrotia	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0000400	Macrotia	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0000400	Macrotia	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0000486	Strabismus	-	OMIM:216400
1161	ERCC8	HP:0000486	Strabismus	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0000486	Strabismus	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0000486	Strabismus	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0000482	Microcornea	HP:0040284	ORPHA:90324
1161	ERCC8	HP:0000490	Deeply set eye	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0000490	Deeply set eye	HP:0040281	ORPHA:90321
1161	ERCC8	HP:0000490	Deeply set eye	11/12	OMIM:216400
1161	ERCC8	HP:0000460	Narrow nose	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0012444	Brain atrophy	HP:0040282	ORPHA:90324
1161	ERCC8	HP:0012447	Abnormal myelination	HP:0040281	ORPHA:90324
1161	ERCC8	HP:0000448	Prominent nose	10/10	OMIM:216400
1161	ERCC8	HP:0000417	Slender nose	-	OMIM:216400
1161	ERCC8	HP:0001744	Splenomegaly	HP:0040284	ORPHA:90324
1161	ERCC8	HP:0001744	Splenomegaly	-	OMIM:216400
1161	ERCC8	HP:0000518	Cataract	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0000518	Cataract	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0000518	Cataract	1/1	OMIM:216400
1161	ERCC8	HP:0000519	Developmental cataract	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0000528	Anophthalmia	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0000528	Anophthalmia	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0000505	Visual impairment	HP:0040282	ORPHA:90321
1161	ERCC8	HP:0000505	Visual impairment	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0000580	Pigmentary retinopathy	HP:0040281	ORPHA:90321
1161	ERCC8	HP:0000580	Pigmentary retinopathy	-	OMIM:216400
1161	ERCC8	HP:0000554	Uveitis	HP:0040283	ORPHA:90321
1161	ERCC8	HP:0000554	Uveitis	HP:0040283	ORPHA:90322
1161	ERCC8	HP:0000556	Retinal dystrophy	HP:0040284	ORPHA:90324
1161	ERCC8	HP:0000573	Retinal hemorrhage	HP:0040284	ORPHA:90324
1161	ERCC8	HP:0000568	Microphthalmia	HP:0040284	ORPHA:90324
1161	ERCC8	HP:0000540	Hypermetropia	HP:0040283	ORPHA:90324
1161	ERCC8	HP:0000540	Hypermetropia	-	OMIM:216400
1161	ERCC8	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:90324
1161	ERCC8	HP:0000543	Optic disc pallor	HP:0040284	ORPHA:90324
1173	AP2M1	HP:0001159	Syndactyly	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040282	ORPHA:1942
1173	AP2M1	HP:0009928	Thick nasal alae	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0007270	Atypical absence seizure	2/4	OMIM:618587
1173	AP2M1	HP:0007256	Abnormal pyramidal sign	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0010850	EEG with spike-wave complexes	2/4	OMIM:618587
1173	AP2M1	HP:0001290	Generalized hypotonia	4/4	OMIM:618587
1173	AP2M1	HP:0001252	Hypotonia	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0001251	Ataxia	HP:0040283	ORPHA:1942
1173	AP2M1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1942
1173	AP2M1	HP:0001249	Intellectual disability	4/4	OMIM:618587
1173	AP2M1	HP:0001263	Global developmental delay	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:1942
1173	AP2M1	HP:0100851	Abnormal emotional state	HP:0040283	ORPHA:1942
1173	AP2M1	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0002500	Abnormal cerebral white matter morphology	1/4	OMIM:618587
1173	AP2M1	HP:0001326	EEG with irregular generalized spike and wave complexes	HP:0040283	ORPHA:1942
1173	AP2M1	HP:0001337	Tremor	HP:0040283	ORPHA:1942
1173	AP2M1	HP:0001337	Tremor	1/4	OMIM:618587
1173	AP2M1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618587
1173	AP2M1	HP:0001336	Myoclonus	1/4	OMIM:618587
1173	AP2M1	HP:0000179	Thick lower lip vermilion	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0000154	Wide mouth	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0002069	Bilateral tonic-clonic seizure	1/4	OMIM:618587
1173	AP2M1	HP:0002066	Gait ataxia	3/4	OMIM:618587
1173	AP2M1	HP:0002078	Truncal ataxia	3/4	OMIM:618587
1173	AP2M1	HP:0002072	Chorea	1/4	OMIM:618587
1173	AP2M1	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:1942
1173	AP2M1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:1942
1173	AP2M1	HP:0200134	Epileptic encephalopathy	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0002292	Frontal balding	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:1942
1173	AP2M1	HP:0430028	Hyperplasia of the maxilla	1/4	OMIM:618587
1173	AP2M1	HP:0002384	Focal impaired awareness seizure	1/4	OMIM:618587
1173	AP2M1	HP:0002392	EEG with polyspike wave complexes	1/4	OMIM:618587
1173	AP2M1	HP:0002392	EEG with polyspike wave complexes	HP:0040282	ORPHA:1942
1173	AP2M1	HP:0002317	Unsteady gait	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0002332	Lack of peer relationships	HP:0040282	ORPHA:1942
1173	AP2M1	HP:0010845	EEG with generalized slow activity	HP:0040283	ORPHA:1942
1173	AP2M1	HP:0010819	Atonic seizure	2/4	OMIM:618587
1173	AP2M1	HP:0010819	Atonic seizure	HP:0040282	ORPHA:1942
1173	AP2M1	HP:0100678	Premature skin wrinkling	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0000752	Hyperactivity	HP:0040282	ORPHA:1942
1173	AP2M1	HP:0000750	Delayed speech and language development	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1942
1173	AP2M1	HP:0000729	Autistic behavior	2/4	OMIM:618587
1173	AP2M1	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:1942
1173	AP2M1	HP:0000289	Broad philtrum	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0000252	Microcephaly	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0000219	Thin upper lip vermilion	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0000219	Thin upper lip vermilion	1/4	OMIM:618587
1173	AP2M1	HP:0011097	Epileptic spasm	-	ORPHA:1942
1173	AP2M1	HP:0000343	Long philtrum	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0011197	EEG with focal spike waves	HP:0040281	ORPHA:1942
1173	AP2M1	HP:0011182	Interictal epileptiform activity	HP:0040283	ORPHA:1942
1173	AP2M1	HP:0011171	Simple febrile seizure	HP:0040283	ORPHA:1942
1173	AP2M1	HP:0011170	Generalized myoclonic-atonic seizure	1/4	OMIM:618587
1173	AP2M1	HP:0011170	Generalized myoclonic-atonic seizure	HP:0040281	ORPHA:1942
1173	AP2M1	HP:0011149	Absence seizure with eyelid myoclonia	2/4	OMIM:618587
1173	AP2M1	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0011220	Prominent forehead	HP:0040284	ORPHA:1942
1173	AP2M1	HP:0000568	Microphthalmia	HP:0040284	ORPHA:1942
1174	AP1S1	HP:0002580	Volvulus	1/6	OMIM:609313
1174	AP1S1	HP:0001252	Hypotonia	5/6	OMIM:609313
1174	AP1S1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:171851
1174	AP1S1	HP:0001249	Intellectual disability	-	OMIM:609313
1174	AP1S1	HP:0001263	Global developmental delay	5/6	OMIM:609313
1174	AP1S1	HP:0033643	Increased circulating very long-chain fatty acid concentration	4/4	OMIM:609313
1174	AP1S1	HP:0003819	Death in childhood	2/6	OMIM:609313
1174	AP1S1	HP:0003811	Neonatal death	1/6	OMIM:609313
1174	AP1S1	HP:0001396	Cholestasis	3/6	OMIM:609313
1174	AP1S1	HP:0001395	Hepatic fibrosis	1/6	OMIM:609313
1174	AP1S1	HP:0001394	Cirrhosis	2/6	OMIM:609313
1174	AP1S1	HP:0000007	Autosomal recessive inheritance	-	OMIM:609313
1174	AP1S1	HP:0001406	Intrahepatic cholestasis	HP:0040282	ORPHA:171851
1174	AP1S1	HP:0002014	Diarrhea	6/6	OMIM:609313
1174	AP1S1	HP:0003577	Congenital onset	6/6	OMIM:609313
1174	AP1S1	HP:0002242	Abnormal intestine morphology	HP:0040281	ORPHA:171851
1174	AP1S1	HP:0011967	Decreased circulating copper concentration	HP:0040282	ORPHA:171851
1174	AP1S1	HP:0010837	Decreased circulating ceruloplasmin concentration	HP:0040282	ORPHA:171851
1174	AP1S1	HP:0009830	Peripheral neuropathy	2/6	OMIM:609313
1174	AP1S1	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:171851
1174	AP1S1	HP:0010783	Erythema	3/6	OMIM:609313
1174	AP1S1	HP:0004388	Microcolon	1/6	OMIM:609313
1174	AP1S1	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:171851
1174	AP1S1	HP:0008064	Ichthyosis	6/6	OMIM:609313
1174	AP1S1	HP:0008064	Ichthyosis	HP:0040281	ORPHA:171851
1174	AP1S1	HP:0001522	Death in infancy	1/6	OMIM:609313
1174	AP1S1	HP:0001510	Growth delay	-	OMIM:609313
1174	AP1S1	HP:0005235	Jejunal atresia	1/6	OMIM:609313
1174	AP1S1	HP:0000348	High forehead	4/4	OMIM:609313
1174	AP1S1	HP:0000407	Sensorineural hearing impairment	5/6	OMIM:609313
1174	AP1S1	HP:0000518	Cataract	2/6	OMIM:609313
1174	AP1S1	HP:0000582	Upslanted palpebral fissure	3/4	OMIM:609313
1175	AP2S1	HP:0008659	Multiple small medullary renal cysts	HP:0040283	OMIM:600740
1175	AP2S1	HP:0000083	Renal insufficiency	HP:0040283	OMIM:600740
1175	AP2S1	HP:0001324	Muscle weakness	HP:0040283	OMIM:600740
1175	AP2S1	HP:0000006	Autosomal dominant inheritance	-	OMIM:600740
1175	AP2S1	HP:0002653	Bone pain	-	OMIM:600740
1175	AP2S1	HP:0002749	Osteomalacia	-	OMIM:600740
1175	AP2S1	HP:0002148	Hypophosphatemia	-	OMIM:600740
1175	AP2S1	HP:0008200	Primary hyperparathyroidism	-	OMIM:600740
1175	AP2S1	HP:0003529	Parathormone-independent increased renal tubular calcium reabsorption	-	OMIM:600740
1175	AP2S1	HP:0001012	Multiple lipomas	-	OMIM:600740
1175	AP2S1	HP:0002315	Headache	HP:0040283	OMIM:600740
1175	AP2S1	HP:0003072	Hypercalcemia	-	OMIM:600740
1175	AP2S1	HP:0004398	Peptic ulcer	HP:0040283	OMIM:600740
1175	AP2S1	HP:0000716	Depression	HP:0040283	OMIM:600740
1175	AP2S1	HP:0000787	Nephrolithiasis	HP:0040283	OMIM:600740
1175	AP2S1	HP:0003127	Hypocalciuria	-	OMIM:600740
1175	AP2S1	HP:0000934	Chondrocalcinosis	-	OMIM:600740
1175	AP2S1	HP:0012378	Fatigue	HP:0040283	OMIM:600740
1175	AP2S1	HP:0002918	Hypermagnesemia	-	OMIM:600740
1175	AP2S1	HP:0001733	Pancreatitis	-	OMIM:600740
1180	CLCN1	HP:0002486	Myotonia	2/2	OMIM:255700
1180	CLCN1	HP:0002486	Myotonia	HP:0040281	ORPHA:614
1180	CLCN1	HP:0002486	Myotonia	7/9	OMIM:160800
1180	CLCN1	HP:0003730	EMG: myotonic runs	-	OMIM:160800
1180	CLCN1	HP:0003730	EMG: myotonic runs	2/2	OMIM:255700
1180	CLCN1	HP:0003740	Myotonia with warm-up phenomenon	HP:0040281	ORPHA:614
1180	CLCN1	HP:0003740	Myotonia with warm-up phenomenon	9/9	OMIM:160800
1180	CLCN1	HP:0003740	Myotonia with warm-up phenomenon	29/29	OMIM:255700
1180	CLCN1	HP:0003712	Skeletal muscle hypertrophy	17/29	OMIM:255700
1180	CLCN1	HP:0003712	Skeletal muscle hypertrophy	HP:0040282	ORPHA:614
1180	CLCN1	HP:0003712	Skeletal muscle hypertrophy	7/9	OMIM:160800
1180	CLCN1	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:614
1180	CLCN1	HP:0001324	Muscle weakness	2/2	OMIM:255700
1180	CLCN1	HP:0001324	Muscle weakness	0/9	OMIM:160800
1180	CLCN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:255300
1180	CLCN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:255700
1180	CLCN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:160800
1180	CLCN1	HP:0008968	Muscle hypertrophy of the lower extremities	-	OMIM:255700
1180	CLCN1	HP:0003326	Myalgia	13/29	OMIM:255700
1180	CLCN1	HP:0003326	Myalgia	1/9	OMIM:160800
1180	CLCN1	HP:0003326	Myalgia	HP:0040282	ORPHA:614
1180	CLCN1	HP:0002015	Dysphagia	-	OMIM:255700
1180	CLCN1	HP:0002015	Dysphagia	HP:0040284	ORPHA:614
1180	CLCN1	HP:0003394	Muscle spasm	HP:0040283	ORPHA:614
1180	CLCN1	HP:0003457	EMG abnormality	HP:0040281	ORPHA:614
1180	CLCN1	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:614
1180	CLCN1	HP:0010548	Percussion myotonia	4/9	OMIM:160800
1180	CLCN1	HP:0010548	Percussion myotonia	26/27	OMIM:255700
1180	CLCN1	HP:0003552	Muscle stiffness	25/27	OMIM:255700
1180	CLCN1	HP:0003552	Muscle stiffness	HP:0040281	ORPHA:614
1180	CLCN1	HP:0003552	Muscle stiffness	7/9	OMIM:160800
1180	CLCN1	HP:0002312	Clumsiness	HP:0040283	ORPHA:614
1180	CLCN1	HP:0003621	Juvenile onset	-	OMIM:255700
1180	CLCN1	HP:0003621	Juvenile onset	-	OMIM:160800
1180	CLCN1	HP:0009063	Progressive distal muscle weakness	HP:0040283	ORPHA:614
1180	CLCN1	HP:0000707	Abnormality of the nervous system	-	OMIM:255300
1180	CLCN1	HP:0011463	Childhood onset	12/12	OMIM:255700
1180	CLCN1	HP:0011463	Childhood onset	-	OMIM:160800
1180	CLCN1	HP:0011462	Young adult onset	-	OMIM:255700
1180	CLCN1	HP:0003198	Myopathy	-	OMIM:255300
1180	CLCN1	HP:0012899	Handgrip myotonia	5/9	OMIM:160800
1180	CLCN1	HP:0100284	EMG: myotonic discharges	HP:0040281	ORPHA:614
1180	CLCN1	HP:0011675	Arrhythmia	HP:0040284	ORPHA:614
1180	CLCN1	HP:0025605	Lid lag on downgaze	1/9	OMIM:160800
1180	CLCN1	HP:0025605	Lid lag on downgaze	7/27	OMIM:255700
1180	CLCN1	HP:0031546	Cardiac conduction abnormality	HP:0040284	ORPHA:614
1180	CLCN1	HP:0025708	Early young adult onset	-	OMIM:160800
1181	CLCN2	HP:0001138	Optic neuropathy	2/6	OMIM:615651
1181	CLCN2	HP:0001123	Visual field defect	4/6	OMIM:615651
1181	CLCN2	HP:0001249	Intellectual disability	-	ORPHA:307
1181	CLCN2	HP:0003829	Typified by incomplete penetrance	-	OMIM:605635
1181	CLCN2	HP:0001324	Muscle weakness	HP:0040283	ORPHA:404
1181	CLCN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615651
1181	CLCN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:607628
1181	CLCN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:605635
1181	CLCN2	HP:0000153	Abnormality of the mouth	HP:0040282	ORPHA:307
1181	CLCN2	HP:0002018	Nausea	HP:0040283	ORPHA:404
1181	CLCN2	HP:0002066	Gait ataxia	2/6	OMIM:615651
1181	CLCN2	HP:0002070	Limb ataxia	6/6	OMIM:615651
1181	CLCN2	HP:0011746	Secretory adrenocortical adenoma	HP:0040282	ORPHA:404
1181	CLCN2	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	HP:0040281	ORPHA:404
1181	CLCN2	HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	-	ORPHA:404
1181	CLCN2	HP:0002123	Generalized myoclonic seizure	HP:0040283	OMIM:607628
1181	CLCN2	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:307
1181	CLCN2	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	OMIM:607628
1181	CLCN2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:307
1181	CLCN2	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:307
1181	CLCN2	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:404
1181	CLCN2	HP:0008221	Adrenal hyperplasia	HP:0040283	ORPHA:404
1181	CLCN2	HP:0003596	Middle age onset	2/6	OMIM:615651
1181	CLCN2	HP:0200114	Metabolic alkalosis	HP:0040283	ORPHA:404
1181	CLCN2	HP:0007000	Morning myoclonic jerks	HP:0040281	ORPHA:307
1181	CLCN2	HP:0002392	EEG with polyspike wave complexes	HP:0040281	ORPHA:307
1181	CLCN2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:307
1181	CLCN2	HP:0002345	Action tremor	2/6	OMIM:615651
1181	CLCN2	HP:0002352	Leukoencephalopathy	-	OMIM:615651
1181	CLCN2	HP:0002315	Headache	3/6	OMIM:615651
1181	CLCN2	HP:0002315	Headache	HP:0040283	ORPHA:404
1181	CLCN2	HP:0007207	Photosensitive tonic-clonic seizure	HP:0040283	ORPHA:307
1181	CLCN2	HP:0003621	Juvenile onset	1/1	OMIM:605635
1181	CLCN2	HP:0003621	Juvenile onset	2/6	OMIM:615651
1181	CLCN2	HP:0007193	Bilateral tonic-clonic seizure on awakening	-	OMIM:607628
1181	CLCN2	HP:0030502	Retinoschisis	1/6	OMIM:615651
1181	CLCN2	HP:0000718	Aggressive behavior	HP:0040284	ORPHA:307
1181	CLCN2	HP:0011463	Childhood onset	1/6	OMIM:615651
1181	CLCN2	HP:0000859	Increased circulating aldosterone concentration	-	OMIM:605635
1181	CLCN2	HP:0011506	Choroidal neovascularization	1/6	OMIM:615651
1181	CLCN2	HP:0000822	Hypertension	1/1	OMIM:605635
1181	CLCN2	HP:0000822	Hypertension	HP:0040280	ORPHA:404
1181	CLCN2	HP:0040084	Abnormal circulating renin concentration	HP:0040281	ORPHA:404
1181	CLCN2	HP:0002900	Hypokalemia	HP:0040283	ORPHA:404
1181	CLCN2	HP:0002900	Hypokalemia	1/1	OMIM:605635
1181	CLCN2	HP:0000360	Tinnitus	HP:0040283	ORPHA:404
1181	CLCN2	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:307
1181	CLCN2	HP:0025710	Late young adult onset	1/6	OMIM:615651
1181	CLCN2	HP:0000421	Epistaxis	HP:0040283	ORPHA:404
1181	CLCN2	HP:0000533	Chorioretinal atrophy	1/6	OMIM:615651
1182	CLCN3	HP:0010945	Fetal pyelectasis	1/9	OMIM:619512
1182	CLCN3	HP:0025161	Frequent temper tantrums	1/9	OMIM:619512
1182	CLCN3	HP:0009890	High anterior hairline	1/9	OMIM:619512
1182	CLCN3	HP:0010862	Delayed fine motor development	8/8	OMIM:619512
1182	CLCN3	HP:0010862	Delayed fine motor development	2/2	OMIM:619517
1182	CLCN3	HP:0002410	Aqueductal stenosis	1/9	OMIM:619512
1182	CLCN3	HP:0100807	Long fingers	1/9	OMIM:619512
1182	CLCN3	HP:0001274	Agenesis of corpus callosum	1/9	OMIM:619512
1182	CLCN3	HP:0001252	Hypotonia	7/9	OMIM:619512
1182	CLCN3	HP:0001249	Intellectual disability	7/7	OMIM:619512
1182	CLCN3	HP:0001263	Global developmental delay	8/8	OMIM:619512
1182	CLCN3	HP:0001263	Global developmental delay	2/2	OMIM:619517
1182	CLCN3	HP:0001257	Spasticity	1/2	OMIM:619517
1182	CLCN3	HP:0007359	Focal-onset seizure	1/2	OMIM:619517
1182	CLCN3	HP:0003819	Death in childhood	1/2	OMIM:619517
1182	CLCN3	HP:0001374	Congenital hip dislocation	1/9	OMIM:619512
1182	CLCN3	HP:0001357	Plagiocephaly	1/9	OMIM:619512
1182	CLCN3	HP:0000028	Cryptorchidism	1/3	OMIM:619512
1182	CLCN3	HP:0033725	Thin corpus callosum	2/9	OMIM:619512
1182	CLCN3	HP:0033725	Thin corpus callosum	2/2	OMIM:619517
1182	CLCN3	HP:0001344	Absent speech	3/8	OMIM:619512
1182	CLCN3	HP:0001344	Absent speech	2/2	OMIM:619517
1182	CLCN3	HP:0001338	Partial agenesis of the corpus callosum	2/9	OMIM:619512
1182	CLCN3	HP:0001338	Partial agenesis of the corpus callosum	2/2	OMIM:619517
1182	CLCN3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619517
1182	CLCN3	HP:0000006	Autosomal dominant inheritance	-	OMIM:619512
1182	CLCN3	HP:0001321	Cerebellar hypoplasia	1/9	OMIM:619512
1182	CLCN3	HP:0000160	Narrow mouth	1/9	OMIM:619512
1182	CLCN3	HP:0001488	Bilateral ptosis	1/9	OMIM:619512
1182	CLCN3	HP:0025444	Reduced amygdala volume	2/2	OMIM:619517
1182	CLCN3	HP:0012110	Hypoplasia of the pons	3/9	OMIM:619512
1182	CLCN3	HP:0025405	Visual fixation instability	2/2	OMIM:619517
1182	CLCN3	HP:0002007	Frontal bossing	1/9	OMIM:619512
1182	CLCN3	HP:0011800	Midface retrusion	2/9	OMIM:619512
1182	CLCN3	HP:0002069	Bilateral tonic-clonic seizure	2/9	OMIM:619512
1182	CLCN3	HP:0011933	Elongated superior cerebellar peduncle	1/10	OMIM:619512
1182	CLCN3	HP:0002188	Delayed CNS myelination	1/9	OMIM:619512
1182	CLCN3	HP:0002188	Delayed CNS myelination	2/2	OMIM:619517
1182	CLCN3	HP:0002194	Delayed gross motor development	8/8	OMIM:619512
1182	CLCN3	HP:0002194	Delayed gross motor development	2/2	OMIM:619517
1182	CLCN3	HP:0002263	Exaggerated cupid's bow	1/9	OMIM:619512
1182	CLCN3	HP:0003593	Infantile onset	1/2	OMIM:619517
1182	CLCN3	HP:0100716	Self-injurious behavior	3/9	OMIM:619512
1182	CLCN3	HP:0011968	Feeding difficulties	8/9	OMIM:619512
1182	CLCN3	HP:0011968	Feeding difficulties	1/2	OMIM:619517
1182	CLCN3	HP:0010804	Tented upper lip vermilion	2/2	OMIM:619517
1182	CLCN3	HP:0008447	Hypoplastic coccygeal vertebrae	1/9	OMIM:619512
1182	CLCN3	HP:0009765	Low hanging columella	2/9	OMIM:619512
1182	CLCN3	HP:0003623	Neonatal onset	1/2	OMIM:619517
1182	CLCN3	HP:0004209	Clinodactyly of the 5th finger	1/9	OMIM:619512
1182	CLCN3	HP:0000639	Nystagmus	1/9	OMIM:619512
1182	CLCN3	HP:0000639	Nystagmus	2/2	OMIM:619517
1182	CLCN3	HP:0000648	Optic atrophy	1/9	OMIM:619512
1182	CLCN3	HP:0000601	Hypotelorism	1/9	OMIM:619512
1182	CLCN3	HP:0000664	Synophrys	1/9	OMIM:619512
1182	CLCN3	HP:0006956	Lateral ventricle dilatation	2/2	OMIM:619517
1182	CLCN3	HP:0003083	Dislocated radial head	1/11	OMIM:619512
1182	CLCN3	HP:0031936	Delayed ability to walk	2/2	OMIM:619517
1182	CLCN3	HP:0000752	Hyperactivity	1/9	OMIM:619512
1182	CLCN3	HP:0000739	Anxiety	3/9	OMIM:619512
1182	CLCN3	HP:0000733	Motor stereotypy	1/9	OMIM:619512
1182	CLCN3	HP:0000750	Delayed speech and language development	8/8	OMIM:619512
1182	CLCN3	HP:0000711	Restlessness	1/2	OMIM:619517
1182	CLCN3	HP:0000729	Autistic behavior	3/7	OMIM:619512
1182	CLCN3	HP:0000729	Autistic behavior	1/2	OMIM:619517
1182	CLCN3	HP:0000722	Compulsive behaviors	1/9	OMIM:619512
1182	CLCN3	HP:0100321	Abnormal dentate nucleus morphology	2/2	OMIM:619517
1182	CLCN3	HP:0100321	Abnormal dentate nucleus morphology	3/9	OMIM:619512
1182	CLCN3	HP:0012803	Anisometropia	1/9	OMIM:619512
1182	CLCN3	HP:0000286	Epicanthus	1/9	OMIM:619512
1182	CLCN3	HP:0000293	Full cheeks	2/9	OMIM:619512
1182	CLCN3	HP:0000294	Low anterior hairline	1/9	OMIM:619512
1182	CLCN3	HP:0000256	Macrocephaly	1/9	OMIM:619512
1182	CLCN3	HP:0000276	Long face	1/9	OMIM:619512
1182	CLCN3	HP:0002804	Arthrogryposis multiplex congenita	1/9	OMIM:619512
1182	CLCN3	HP:0000239	Large fontanelles	1/9	OMIM:619512
1182	CLCN3	HP:0000238	Hydrocephalus	1/9	OMIM:619512
1182	CLCN3	HP:0000252	Microcephaly	2/9	OMIM:619512
1182	CLCN3	HP:0000252	Microcephaly	4/4	OMIM:619517
1182	CLCN3	HP:0000248	Brachycephaly	1/9	OMIM:619512
1182	CLCN3	HP:0000219	Thin upper lip vermilion	2/2	OMIM:619517
1182	CLCN3	HP:0000218	High palate	2/9	OMIM:619512
1182	CLCN3	HP:0025517	Hypoplastic hippocampus	2/2	OMIM:619517
1182	CLCN3	HP:0001508	Failure to thrive	4/9	OMIM:619512
1182	CLCN3	HP:0007814	Retinal pigment epithelial mottling	2/2	OMIM:619517
1182	CLCN3	HP:0007874	Almond-shaped palpebral fissure	1/9	OMIM:619512
1182	CLCN3	HP:0000358	Posteriorly rotated ears	1/9	OMIM:619512
1182	CLCN3	HP:0000369	Low-set ears	1/9	OMIM:619512
1182	CLCN3	HP:0000343	Long philtrum	1/9	OMIM:619512
1182	CLCN3	HP:0032792	Tonic seizure	2/9	OMIM:619512
1182	CLCN3	HP:0032792	Tonic seizure	2/2	OMIM:619517
1182	CLCN3	HP:0000347	Micrognathia	2/9	OMIM:619512
1182	CLCN3	HP:0032794	Myoclonic seizure	1/9	OMIM:619512
1182	CLCN3	HP:0032794	Myoclonic seizure	2/2	OMIM:619517
1182	CLCN3	HP:0000316	Hypertelorism	2/9	OMIM:619512
1182	CLCN3	HP:0000322	Short philtrum	2/9	OMIM:619512
1182	CLCN3	HP:0001631	Atrial septal defect	1/9	OMIM:619512
1182	CLCN3	HP:0000303	Mandibular prognathia	1/9	OMIM:619512
1182	CLCN3	HP:0000407	Sensorineural hearing impairment	1/8	OMIM:619512
1182	CLCN3	HP:0000400	Macrotia	1/9	OMIM:619512
1182	CLCN3	HP:0000486	Strabismus	5/9	OMIM:619512
1182	CLCN3	HP:0000494	Downslanted palpebral fissures	3/9	OMIM:619512
1182	CLCN3	HP:0001776	Bilateral talipes equinovarus	1/11	OMIM:619512
1182	CLCN3	HP:0000418	Narrow nasal ridge	1/9	OMIM:619512
1182	CLCN3	HP:0000414	Bulbous nose	2/9	OMIM:619512
1182	CLCN3	HP:0005487	Prominent metopic ridge	1/9	OMIM:619512
1182	CLCN3	HP:0011220	Prominent forehead	2/9	OMIM:619512
1182	CLCN3	HP:0000556	Retinal dystrophy	1/9	OMIM:619512
1182	CLCN3	HP:0000574	Thick eyebrow	2/9	OMIM:619512
1182	CLCN3	HP:0000565	Esotropia	1/9	OMIM:619512
1182	CLCN3	HP:0000540	Hypermetropia	1/9	OMIM:619512
1182	CLCN3	HP:0012520	Dilation of Virchow-Robin spaces	1/9	OMIM:619512
1182	CLCN3	HP:0012520	Dilation of Virchow-Robin spaces	2/2	OMIM:619517
1183	CLCN4	HP:0007302	Bipolar affective disorder	-	OMIM:300114
1183	CLCN4	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:485350
1183	CLCN4	HP:0001290	Generalized hypotonia	-	OMIM:300114
1183	CLCN4	HP:0001256	Intellectual disability, mild	-	OMIM:300114
1183	CLCN4	HP:0001250	Seizure	-	OMIM:300114
1183	CLCN4	HP:0001250	Seizure	HP:0040282	ORPHA:485350
1183	CLCN4	HP:0001252	Hypotonia	1/1	OMIM:300114
1183	CLCN4	HP:0001263	Global developmental delay	1/1	OMIM:300114
1183	CLCN4	HP:0001263	Global developmental delay	HP:0040281	ORPHA:485350
1183	CLCN4	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:485350
1183	CLCN4	HP:0000023	Inguinal hernia	HP:0040284	ORPHA:485350
1183	CLCN4	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:485350
1183	CLCN4	HP:0001332	Dystonia	1/1	OMIM:300114
1183	CLCN4	HP:0001344	Absent speech	-	OMIM:300114
1183	CLCN4	HP:0001336	Myoclonus	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0002650	Scoliosis	HP:0040283	OMIM:300114
1183	CLCN4	HP:0002650	Scoliosis	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0008947	Floppy infant	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0001423	X-linked dominant inheritance	-	OMIM:300114
1183	CLCN4	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0011800	Midface retrusion	HP:0040284	ORPHA:485350
1183	CLCN4	HP:0011800	Midface retrusion	-	OMIM:300114
1183	CLCN4	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0002061	Lower limb spasticity	-	OMIM:300114
1183	CLCN4	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:300114
1183	CLCN4	HP:0002072	Chorea	HP:0040284	ORPHA:485350
1183	CLCN4	HP:0002073	Progressive cerebellar ataxia	-	OMIM:300114
1183	CLCN4	HP:0002073	Progressive cerebellar ataxia	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0002059	Cerebral atrophy	HP:0040284	OMIM:300114
1183	CLCN4	HP:0002120	Cerebral cortical atrophy	HP:0040284	OMIM:300114
1183	CLCN4	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:485350
1183	CLCN4	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0003593	Infantile onset	1/1	OMIM:300114
1183	CLCN4	HP:0100704	Cerebral visual impairment	HP:0040284	OMIM:300114
1183	CLCN4	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0200134	Epileptic encephalopathy	1/1	OMIM:300114
1183	CLCN4	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0002384	Focal impaired awareness seizure	1/1	OMIM:300114
1183	CLCN4	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:485350
1183	CLCN4	HP:0002317	Unsteady gait	HP:0040284	ORPHA:485350
1183	CLCN4	HP:0006986	Upper limb spasticity	HP:0040284	ORPHA:485350
1183	CLCN4	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0000752	Hyperactivity	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0000739	Anxiety	-	OMIM:300114
1183	CLCN4	HP:0000739	Anxiety	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0000716	Depression	-	OMIM:300114
1183	CLCN4	HP:0000716	Depression	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0000718	Aggressive behavior	-	OMIM:300114
1183	CLCN4	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0000729	Autistic behavior	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0000729	Autistic behavior	-	OMIM:300114
1183	CLCN4	HP:0000722	Compulsive behaviors	-	OMIM:300114
1183	CLCN4	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0000708	Atypical behavior	HP:0040283	OMIM:300114
1183	CLCN4	HP:0000708	Atypical behavior	HP:0040282	ORPHA:485350
1183	CLCN4	HP:0000280	Coarse facial features	-	OMIM:300114
1183	CLCN4	HP:0000256	Macrocephaly	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0000276	Long face	-	OMIM:300114
1183	CLCN4	HP:0000276	Long face	HP:0040284	ORPHA:485350
1183	CLCN4	HP:0000252	Microcephaly	1/1	OMIM:300114
1183	CLCN4	HP:0000252	Microcephaly	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0000307	Pointed chin	HP:0040284	ORPHA:485350
1183	CLCN4	HP:0000303	Mandibular prognathia	-	OMIM:300114
1183	CLCN4	HP:0011193	EEG with focal spikes	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0011167	Focal tonic seizure	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0000486	Strabismus	HP:0040283	OMIM:300114
1183	CLCN4	HP:0000486	Strabismus	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0012469	Infantile spasms	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0000494	Downslanted palpebral fissures	HP:0040284	OMIM:300114
1183	CLCN4	HP:0012448	Delayed myelination	HP:0040283	ORPHA:485350
1183	CLCN4	HP:0001763	Pes planus	HP:0040284	ORPHA:485350
1184	CLCN5	HP:0003774	Stage 5 chronic kidney disease	2/28	OMIM:300009
1184	CLCN5	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1184	CLCN5	HP:0001293	Cranial nerve compression	-	OMIM:131300
1184	CLCN5	HP:0001252	Hypotonia	2/7	OMIM:615777
1184	CLCN5	HP:0001249	Intellectual disability	5/7	OMIM:615777
1184	CLCN5	HP:0001263	Global developmental delay	-	OMIM:615777
1184	CLCN5	HP:0002515	Waddling gait	54/102	OMIM:131300
1184	CLCN5	HP:0000083	Renal insufficiency	-	OMIM:308990
1184	CLCN5	HP:0000083	Renal insufficiency	-	OMIM:300009
1184	CLCN5	HP:0000083	Renal insufficiency	-	OMIM:300554
1184	CLCN5	HP:0000083	Renal insufficiency	-	OMIM:310468
1184	CLCN5	HP:0000097	Focal segmental glomerulosclerosis	-	OMIM:308990
1184	CLCN5	HP:0000096	Glomerular sclerosis	-	OMIM:310468
1184	CLCN5	HP:0000092	Renal tubular atrophy	-	OMIM:310468
1184	CLCN5	HP:0000092	Renal tubular atrophy	-	OMIM:308990
1184	CLCN5	HP:0001382	Joint hypermobility	-	OMIM:615777
1184	CLCN5	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1184	CLCN5	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1184	CLCN5	HP:0002663	Delayed epiphyseal ossification	-	OMIM:300554
1184	CLCN5	HP:0002663	Delayed epiphyseal ossification	-	OMIM:300009
1184	CLCN5	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1184	CLCN5	HP:0001324	Muscle weakness	40/96	OMIM:131300
1184	CLCN5	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1184	CLCN5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1184	CLCN5	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1184	CLCN5	HP:0002653	Bone pain	-	OMIM:300009
1184	CLCN5	HP:0002653	Bone pain	-	OMIM:300554
1184	CLCN5	HP:0002650	Scoliosis	12/14	OMIM:131300
1184	CLCN5	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1184	CLCN5	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1184	CLCN5	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1184	CLCN5	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1184	CLCN5	HP:0025466	Beta 2-microglobulinuria	10/10	OMIM:308990
1184	CLCN5	HP:0000175	Cleft palate	2/7	OMIM:615777
1184	CLCN5	HP:0000121	Nephrocalcinosis	6/6	OMIM:308990
1184	CLCN5	HP:0000121	Nephrocalcinosis	9/28	OMIM:300009
1184	CLCN5	HP:0000121	Nephrocalcinosis	-	OMIM:300554
1184	CLCN5	HP:0000121	Nephrocalcinosis	-	OMIM:310468
1184	CLCN5	HP:0000117	Renal phosphate wasting	-	OMIM:300554
1184	CLCN5	HP:0000117	Renal phosphate wasting	-	OMIM:300009
1184	CLCN5	HP:0000114	Proximal tubulopathy	-	OMIM:300554
1184	CLCN5	HP:0000114	Proximal tubulopathy	-	OMIM:300009
1184	CLCN5	HP:0000114	Proximal tubulopathy	-	OMIM:310468
1184	CLCN5	HP:0000114	Proximal tubulopathy	-	OMIM:308990
1184	CLCN5	HP:0002757	Recurrent fractures	-	OMIM:300009
1184	CLCN5	HP:0002757	Recurrent fractures	-	OMIM:300554
1184	CLCN5	HP:0002753	Thin bony cortex	-	OMIM:300554
1184	CLCN5	HP:0002753	Thin bony cortex	-	OMIM:300009
1184	CLCN5	HP:0002752	Sparse bone trabeculae	-	OMIM:300554
1184	CLCN5	HP:0002752	Sparse bone trabeculae	-	OMIM:300009
1184	CLCN5	HP:0001419	X-linked recessive inheritance	-	OMIM:308990
1184	CLCN5	HP:0001419	X-linked recessive inheritance	-	OMIM:300009
1184	CLCN5	HP:0001419	X-linked recessive inheritance	-	OMIM:300554
1184	CLCN5	HP:0001419	X-linked recessive inheritance	-	OMIM:310468
1184	CLCN5	HP:0002748	Rickets	-	OMIM:300554
1184	CLCN5	HP:0002748	Rickets	-	OMIM:300009
1184	CLCN5	HP:0002749	Osteomalacia	-	OMIM:300554
1184	CLCN5	HP:0002749	Osteomalacia	-	OMIM:300009
1184	CLCN5	HP:0003355	Aminoaciduria	-	OMIM:308990
1184	CLCN5	HP:0003355	Aminoaciduria	-	OMIM:300009
1184	CLCN5	HP:0003388	Easy fatigability	36/76	OMIM:131300
1184	CLCN5	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1184	CLCN5	HP:0002150	Hypercalciuria	-	OMIM:300554
1184	CLCN5	HP:0002150	Hypercalciuria	6/10	OMIM:308990
1184	CLCN5	HP:0002150	Hypercalciuria	20/28	OMIM:300009
1184	CLCN5	HP:0002150	Hypercalciuria	-	OMIM:310468
1184	CLCN5	HP:0002148	Hypophosphatemia	-	OMIM:300554
1184	CLCN5	HP:0002148	Hypophosphatemia	-	OMIM:308990
1184	CLCN5	HP:0002148	Hypophosphatemia	-	OMIM:300009
1184	CLCN5	HP:0010502	Fibular bowing	-	OMIM:300554
1184	CLCN5	HP:0010502	Fibular bowing	-	OMIM:300009
1184	CLCN5	HP:0003510	Severe short stature	7/7	OMIM:615777
1184	CLCN5	HP:0003677	Slowly progressive	-	OMIM:308990
1184	CLCN5	HP:0002315	Headache	-	OMIM:131300
1184	CLCN5	HP:0004976	Knee dislocation	6/7	OMIM:615777
1184	CLCN5	HP:0009803	Short phalanx of finger	-	OMIM:615777
1184	CLCN5	HP:0009763	Limb pain	63/92	OMIM:131300
1184	CLCN5	HP:0003621	Juvenile onset	-	OMIM:131300
1184	CLCN5	HP:0004912	Hypophosphatemic rickets	-	OMIM:300554
1184	CLCN5	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1184	CLCN5	HP:0005576	Tubulointerstitial fibrosis	-	OMIM:310468
1184	CLCN5	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1184	CLCN5	HP:0012622	Chronic kidney disease	-	OMIM:300554
1184	CLCN5	HP:0012622	Chronic kidney disease	-	OMIM:300009
1184	CLCN5	HP:0012622	Chronic kidney disease	-	OMIM:310468
1184	CLCN5	HP:6001056	Out-toeing	-	OMIM:131300
1184	CLCN5	HP:0000651	Diplopia	-	OMIM:131300
1184	CLCN5	HP:0001956	Truncal obesity	2/7	OMIM:615777
1184	CLCN5	HP:0001903	Anemia	HP:0040283	OMIM:131300
1184	CLCN5	HP:0010049	Short metacarpal	-	OMIM:615777
1184	CLCN5	HP:0000678	Dental crowding	-	OMIM:615777
1184	CLCN5	HP:0000670	Carious teeth	-	OMIM:131300
1184	CLCN5	HP:0011304	Broad thumb	2/7	OMIM:615777
1184	CLCN5	HP:0000668	Hypodontia	-	OMIM:615777
1184	CLCN5	HP:0000664	Synophrys	-	OMIM:615777
1184	CLCN5	HP:0004322	Short stature	-	OMIM:300009
1184	CLCN5	HP:0004322	Short stature	-	OMIM:300554
1184	CLCN5	HP:0004322	Short stature	-	OMIM:308990
1184	CLCN5	HP:0003076	Glycosuria	-	OMIM:308990
1184	CLCN5	HP:0003076	Glycosuria	-	OMIM:300009
1184	CLCN5	HP:0004396	Poor appetite	-	OMIM:131300
1184	CLCN5	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1184	CLCN5	HP:0003029	Enlargement of the ankles	-	OMIM:300554
1184	CLCN5	HP:0003029	Enlargement of the ankles	-	OMIM:300009
1184	CLCN5	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1184	CLCN5	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1184	CLCN5	HP:0003013	Bulging epiphyses	-	OMIM:300554
1184	CLCN5	HP:0003013	Bulging epiphyses	-	OMIM:300009
1184	CLCN5	HP:0003026	Short long bone	7/7	OMIM:615777
1184	CLCN5	HP:0003025	Metaphyseal irregularity	-	OMIM:300554
1184	CLCN5	HP:0003025	Metaphyseal irregularity	-	OMIM:300009
1184	CLCN5	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1184	CLCN5	HP:0003020	Enlargement of the wrists	-	OMIM:300554
1184	CLCN5	HP:0003020	Enlargement of the wrists	-	OMIM:300009
1184	CLCN5	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1184	CLCN5	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1184	CLCN5	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1184	CLCN5	HP:0000750	Delayed speech and language development	-	OMIM:615777
1184	CLCN5	HP:0011461	Fetal onset	7/7	OMIM:615777
1184	CLCN5	HP:0000774	Narrow chest	2/7	OMIM:615777
1184	CLCN5	HP:0000787	Nephrolithiasis	9/28	OMIM:300009
1184	CLCN5	HP:0000787	Nephrolithiasis	-	OMIM:300554
1184	CLCN5	HP:0000787	Nephrolithiasis	-	OMIM:310468
1184	CLCN5	HP:0003109	Hyperphosphaturia	-	OMIM:300009
1184	CLCN5	HP:0003126	Low-molecular-weight proteinuria	-	OMIM:300554
1184	CLCN5	HP:0003126	Low-molecular-weight proteinuria	10/28	OMIM:300009
1184	CLCN5	HP:0003126	Low-molecular-weight proteinuria	-	OMIM:310468
1184	CLCN5	HP:0003126	Low-molecular-weight proteinuria	6/6	OMIM:308990
1184	CLCN5	HP:0000926	Platyspondyly	1/7	OMIM:615777
1184	CLCN5	HP:0003180	Flat acetabular roof	-	OMIM:615777
1184	CLCN5	HP:0003158	Hyposthenuria	6/6	OMIM:308990
1184	CLCN5	HP:0004482	Relative macrocephaly	-	OMIM:615777
1184	CLCN5	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1184	CLCN5	HP:0000823	Delayed puberty	-	OMIM:131300
1184	CLCN5	HP:0000894	Short clavicles	-	OMIM:615777
1184	CLCN5	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1184	CLCN5	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1184	CLCN5	HP:0000286	Epicanthus	1/7	OMIM:615777
1184	CLCN5	HP:0000280	Coarse facial features	2/7	OMIM:615777
1184	CLCN5	HP:0031415	High serum calcitriol	-	OMIM:300554
1184	CLCN5	HP:0031415	High serum calcitriol	-	OMIM:300009
1184	CLCN5	HP:0002827	Hip dislocation	3/7	OMIM:615777
1184	CLCN5	HP:0000252	Microcephaly	-	OMIM:615777
1184	CLCN5	HP:0002857	Genu valgum	-	OMIM:131300
1184	CLCN5	HP:0001533	Slender build	-	OMIM:131300
1184	CLCN5	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1184	CLCN5	HP:0007807	Optic nerve compression	-	OMIM:131300
1184	CLCN5	HP:0012368	Flat face	7/7	OMIM:615777
1184	CLCN5	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1184	CLCN5	HP:0002907	Microscopic hematuria	-	OMIM:310468
1184	CLCN5	HP:0002907	Microscopic hematuria	-	OMIM:308990
1184	CLCN5	HP:0002907	Microscopic hematuria	-	OMIM:300009
1184	CLCN5	HP:0000365	Hearing impairment	10/67	OMIM:131300
1184	CLCN5	HP:0000343	Long philtrum	1/7	OMIM:615777
1184	CLCN5	HP:0011001	Increased bone mineral density	-	OMIM:131300
1184	CLCN5	HP:0002982	Tibial bowing	-	OMIM:300554
1184	CLCN5	HP:0002982	Tibial bowing	-	OMIM:300009
1184	CLCN5	HP:0002980	Femoral bowing	-	OMIM:300554
1184	CLCN5	HP:0002980	Femoral bowing	-	OMIM:300009
1184	CLCN5	HP:0002979	Bowing of the legs	-	OMIM:300554
1184	CLCN5	HP:0002979	Bowing of the legs	-	OMIM:300009
1184	CLCN5	HP:0000311	Round face	2/7	OMIM:615777
1184	CLCN5	HP:0002970	Genu varum	-	OMIM:615777
1184	CLCN5	HP:0000303	Mandibular prognathia	-	OMIM:131300
1184	CLCN5	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1184	CLCN5	HP:0000470	Short neck	1/7	OMIM:615777
1184	CLCN5	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1184	CLCN5	HP:0001763	Pes planus	1/7	OMIM:615777
1184	CLCN5	HP:0001840	Metatarsus adductus	-	OMIM:615777
1184	CLCN5	HP:0000520	Proptosis	2/4	OMIM:131300
1184	CLCN5	HP:0000520	Proptosis	7/7	OMIM:615777
1184	CLCN5	HP:0000592	Blue sclerae	2/7	OMIM:615777
1184	CLCN5	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1184	CLCN5	HP:0012514	Lower limb pain	4/4	OMIM:131300
1185	CLCN6	HP:0001137	Alternating esotropia	1/3	OMIM:619173
1185	CLCN6	HP:0009886	Trichorrhexis nodosa	1/3	OMIM:619173
1185	CLCN6	HP:0001290	Generalized hypotonia	2/3	OMIM:619173
1185	CLCN6	HP:0001270	Motor delay	3/3	OMIM:619173
1185	CLCN6	HP:0001250	Seizure	0/3	OMIM:619173
1185	CLCN6	HP:0001263	Global developmental delay	3/3	OMIM:619173
1185	CLCN6	HP:0002553	Highly arched eyebrow	1/3	OMIM:619173
1185	CLCN6	HP:0000011	Neurogenic bladder	2/3	OMIM:619173
1185	CLCN6	HP:0000006	Autosomal dominant inheritance	-	OMIM:619173
1185	CLCN6	HP:0008936	Axial hypotonia	1/3	OMIM:619173
1185	CLCN6	HP:0002093	Respiratory insufficiency	3/3	OMIM:619173
1185	CLCN6	HP:0010602	Type 2 muscle fiber predominance	1/3	OMIM:619173
1185	CLCN6	HP:0100704	Cerebral visual impairment	1/3	OMIM:619173
1185	CLCN6	HP:0003557	Increased variability in muscle fiber diameter	1/3	OMIM:619173
1185	CLCN6	HP:0002353	EEG abnormality	2/3	OMIM:619173
1185	CLCN6	HP:0000639	Nystagmus	1/3	OMIM:619173
1185	CLCN6	HP:0000646	Amblyopia	1/3	OMIM:619173
1185	CLCN6	HP:0030680	Abnormal cardiovascular system morphology	0/3	OMIM:619173
1185	CLCN6	HP:0004370	Abnormality of temperature regulation	2/3	OMIM:619173
1185	CLCN6	HP:0100022	Abnormality of movement	1/3	OMIM:619173
1185	CLCN6	HP:0000763	Sensory neuropathy	2/3	OMIM:619173
1185	CLCN6	HP:0011471	Gastrostomy tube feeding in infancy	3/3	OMIM:619173
1185	CLCN6	HP:0000975	Hyperhidrosis	2/3	OMIM:619173
1185	CLCN6	HP:0000219	Thin upper lip vermilion	1/3	OMIM:619173
1185	CLCN6	HP:0000364	Hearing abnormality	0/3	OMIM:619173
1185	CLCN6	HP:0000343	Long philtrum	1/3	OMIM:619173
1185	CLCN6	HP:0000316	Hypertelorism	1/3	OMIM:619173
1186	CLCN7	HP:0010885	Avascular necrosis	HP:0040281	ORPHA:53
1186	CLCN7	HP:0010862	Delayed fine motor development	2/2	OMIM:618541
1186	CLCN7	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:53
1186	CLCN7	HP:0007209	Facial paralysis	-	OMIM:166600
1186	CLCN7	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1186	CLCN7	HP:0001293	Cranial nerve compression	HP:0040284	ORPHA:53
1186	CLCN7	HP:0001293	Cranial nerve compression	HP:0040284	ORPHA:210110
1186	CLCN7	HP:0001293	Cranial nerve compression	-	OMIM:131300
1186	CLCN7	HP:0001290	Generalized hypotonia	1/2	OMIM:618541
1186	CLCN7	HP:0001272	Cerebellar atrophy	2/2	OMIM:618541
1186	CLCN7	HP:0001252	Hypotonia	2/7	OMIM:615777
1186	CLCN7	HP:0001249	Intellectual disability	5/7	OMIM:615777
1186	CLCN7	HP:0001263	Global developmental delay	-	OMIM:615777
1186	CLCN7	HP:0031035	Chronic infection	HP:0040284	ORPHA:210110
1186	CLCN7	HP:0002515	Waddling gait	54/102	OMIM:131300
1186	CLCN7	HP:0001373	Joint dislocation	HP:0040281	ORPHA:53
1186	CLCN7	HP:0001369	Arthritis	HP:0040281	ORPHA:53
1186	CLCN7	HP:0001382	Joint hypermobility	-	OMIM:615777
1186	CLCN7	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:667
1186	CLCN7	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1186	CLCN7	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1186	CLCN7	HP:0008843	Hip osteoarthritis	-	OMIM:166600
1186	CLCN7	HP:0002659	Increased susceptibility to fractures	HP:0040282	ORPHA:210110
1186	CLCN7	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1186	CLCN7	HP:0001324	Muscle weakness	40/96	OMIM:131300
1186	CLCN7	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1186	CLCN7	HP:0000007	Autosomal recessive inheritance	-	OMIM:611490
1186	CLCN7	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1186	CLCN7	HP:0001337	Tremor	HP:0040281	ORPHA:667
1186	CLCN7	HP:0000006	Autosomal dominant inheritance	-	OMIM:166600
1186	CLCN7	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1186	CLCN7	HP:0000006	Autosomal dominant inheritance	-	OMIM:618541
1186	CLCN7	HP:0002653	Bone pain	HP:0040281	ORPHA:667
1186	CLCN7	HP:0002653	Bone pain	HP:0040281	ORPHA:53
1186	CLCN7	HP:0002650	Scoliosis	HP:0040282	ORPHA:53
1186	CLCN7	HP:0002650	Scoliosis	12/14	OMIM:131300
1186	CLCN7	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1186	CLCN7	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:166600
1186	CLCN7	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1186	CLCN7	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1186	CLCN7	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1186	CLCN7	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:53
1186	CLCN7	HP:0000164	Abnormality of the dentition	HP:0040284	ORPHA:210110
1186	CLCN7	HP:0000175	Cleft palate	2/7	OMIM:615777
1186	CLCN7	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	HP:0040283	ORPHA:53
1186	CLCN7	HP:0007663	Reduced visual acuity	1/2	OMIM:618541
1186	CLCN7	HP:0006323	Premature loss of primary teeth	HP:0040281	ORPHA:667
1186	CLCN7	HP:0007626	Mandibular osteomyelitis	HP:0040281	ORPHA:53
1186	CLCN7	HP:0007626	Mandibular osteomyelitis	-	OMIM:166600
1186	CLCN7	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:667
1186	CLCN7	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:210110
1186	CLCN7	HP:0002757	Recurrent fractures	-	OMIM:166600
1186	CLCN7	HP:0002757	Recurrent fractures	-	OMIM:611490
1186	CLCN7	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:53
1186	CLCN7	HP:0002758	Osteoarthritis	HP:0040281	ORPHA:53
1186	CLCN7	HP:0002754	Osteomyelitis	HP:0040284	ORPHA:210110
1186	CLCN7	HP:0002754	Osteomyelitis	HP:0040281	ORPHA:53
1186	CLCN7	HP:0001433	Hepatosplenomegaly	HP:0040284	ORPHA:210110
1186	CLCN7	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:667
1186	CLCN7	HP:0002007	Frontal bossing	HP:0040281	ORPHA:53
1186	CLCN7	HP:0004618	Sandwich appearance of vertebral bodies	HP:0040282	ORPHA:210110
1186	CLCN7	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:667
1186	CLCN7	HP:0003388	Easy fatigability	36/76	OMIM:131300
1186	CLCN7	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1186	CLCN7	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:667
1186	CLCN7	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:53
1186	CLCN7	HP:0005916	Abnormal metacarpal morphology	HP:0040281	ORPHA:53
1186	CLCN7	HP:0002148	Hypophosphatemia	HP:0040283	ORPHA:667
1186	CLCN7	HP:0002104	Apnea	HP:0040283	ORPHA:667
1186	CLCN7	HP:0003418	Back pain	HP:0040282	ORPHA:210110
1186	CLCN7	HP:0002188	Delayed CNS myelination	2/2	OMIM:618541
1186	CLCN7	HP:0002194	Delayed gross motor development	2/2	OMIM:618541
1186	CLCN7	HP:0010543	Opsoclonus	HP:0040281	ORPHA:667
1186	CLCN7	HP:0003593	Infantile onset	1/2	OMIM:611490
1186	CLCN7	HP:0003577	Congenital onset	2/2	OMIM:618541
1186	CLCN7	HP:0002240	Hepatomegaly	2/2	OMIM:618541
1186	CLCN7	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:667
1186	CLCN7	HP:0002240	Hepatomegaly	1/2	OMIM:611490
1186	CLCN7	HP:0002257	Chronic rhinitis	HP:0040281	ORPHA:667
1186	CLCN7	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:667
1186	CLCN7	HP:0010719	Abnormality of hair texture	HP:0040281	ORPHA:667
1186	CLCN7	HP:0010628	Facial palsy	-	OMIM:166600
1186	CLCN7	HP:0010628	Facial palsy	-	OMIM:611490
1186	CLCN7	HP:0010628	Facial palsy	HP:0040281	ORPHA:53
1186	CLCN7	HP:0003510	Severe short stature	7/7	OMIM:615777
1186	CLCN7	HP:0001010	Hypopigmentation of the skin	2/2	OMIM:618541
1186	CLCN7	HP:0002315	Headache	-	OMIM:131300
1186	CLCN7	HP:0004976	Knee dislocation	6/7	OMIM:615777
1186	CLCN7	HP:0004975	Erlenmeyer flask deformity of the femurs	HP:0040282	ORPHA:210110
1186	CLCN7	HP:0009803	Short phalanx of finger	-	OMIM:615777
1186	CLCN7	HP:0009763	Limb pain	63/92	OMIM:131300
1186	CLCN7	HP:0003623	Neonatal onset	1/1	OMIM:611490
1186	CLCN7	HP:0003621	Juvenile onset	-	OMIM:131300
1186	CLCN7	HP:0003621	Juvenile onset	-	OMIM:166600
1186	CLCN7	HP:0005528	Bone marrow hypocellularity	HP:0040283	OMIM:166600
1186	CLCN7	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1186	CLCN7	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:667
1186	CLCN7	HP:0006824	Cranial nerve paralysis	HP:0040281	ORPHA:53
1186	CLCN7	HP:0005599	Hypopigmentation of hair	2/2	OMIM:618541
1186	CLCN7	HP:0005565	Reduced renal corticomedullary differentiation	1/2	OMIM:618541
1186	CLCN7	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1186	CLCN7	HP:0000639	Nystagmus	HP:0040281	ORPHA:667
1186	CLCN7	HP:6001056	Out-toeing	-	OMIM:131300
1186	CLCN7	HP:0000651	Diplopia	-	OMIM:131300
1186	CLCN7	HP:0000649	Abnormality of visual evoked potentials	HP:0040281	ORPHA:667
1186	CLCN7	HP:0000648	Optic atrophy	1/2	OMIM:611490
1186	CLCN7	HP:0000648	Optic atrophy	HP:0040282	ORPHA:53
1186	CLCN7	HP:0000618	Blindness	HP:0040283	ORPHA:53
1186	CLCN7	HP:0001956	Truncal obesity	2/7	OMIM:615777
1186	CLCN7	HP:0001923	Reticulocytosis	-	OMIM:611490
1186	CLCN7	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:667
1186	CLCN7	HP:0001903	Anemia	HP:0040281	ORPHA:667
1186	CLCN7	HP:0001903	Anemia	HP:0040283	OMIM:131300
1186	CLCN7	HP:0001903	Anemia	1/1	OMIM:611490
1186	CLCN7	HP:0001903	Anemia	HP:0040282	ORPHA:53
1186	CLCN7	HP:0001903	Anemia	HP:0040283	ORPHA:210110
1186	CLCN7	HP:0010049	Short metacarpal	-	OMIM:615777
1186	CLCN7	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:667
1186	CLCN7	HP:0000678	Dental crowding	-	OMIM:615777
1186	CLCN7	HP:0000689	Dental malocclusion	HP:0040284	ORPHA:210110
1186	CLCN7	HP:0000670	Carious teeth	-	OMIM:131300
1186	CLCN7	HP:0000670	Carious teeth	HP:0040283	ORPHA:53
1186	CLCN7	HP:0011304	Broad thumb	2/7	OMIM:615777
1186	CLCN7	HP:0000668	Hypodontia	-	OMIM:615777
1186	CLCN7	HP:0000664	Synophrys	-	OMIM:615777
1186	CLCN7	HP:0004322	Short stature	HP:0040282	ORPHA:53
1186	CLCN7	HP:0004322	Short stature	2/2	OMIM:618541
1186	CLCN7	HP:0005652	Cortical sclerosis	HP:0040282	ORPHA:210110
1186	CLCN7	HP:0003084	Recurrent long bone fractures	-	OMIM:166600
1186	CLCN7	HP:0004396	Poor appetite	-	OMIM:131300
1186	CLCN7	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1186	CLCN7	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1186	CLCN7	HP:0004370	Abnormality of temperature regulation	HP:0040281	ORPHA:667
1186	CLCN7	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1186	CLCN7	HP:0003026	Short long bone	7/7	OMIM:615777
1186	CLCN7	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1186	CLCN7	HP:0004349	Reduced bone mineral density	HP:0040281	ORPHA:667
1186	CLCN7	HP:0004348	Abnormality of bone mineral density	HP:0040281	ORPHA:210110
1186	CLCN7	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:667
1186	CLCN7	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:667
1186	CLCN7	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1186	CLCN7	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1186	CLCN7	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1186	CLCN7	HP:0000750	Delayed speech and language development	-	OMIM:615777
1186	CLCN7	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:210110
1186	CLCN7	HP:0011463	Childhood onset	1/2	OMIM:611490
1186	CLCN7	HP:0011461	Fetal onset	7/7	OMIM:615777
1186	CLCN7	HP:0000774	Narrow chest	HP:0040281	ORPHA:667
1186	CLCN7	HP:0000774	Narrow chest	2/7	OMIM:615777
1186	CLCN7	HP:0030757	Tooth abscess	HP:0040283	ORPHA:53
1186	CLCN7	HP:0004415	Pulmonary artery stenosis	HP:0040283	ORPHA:667
1186	CLCN7	HP:0005746	Osteosclerosis of the base of the skull	HP:0040283	ORPHA:53
1186	CLCN7	HP:0005746	Osteosclerosis of the base of the skull	HP:0040282	ORPHA:210110
1186	CLCN7	HP:0000926	Platyspondyly	1/7	OMIM:615777
1186	CLCN7	HP:0003180	Flat acetabular roof	-	OMIM:615777
1186	CLCN7	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040283	ORPHA:210110
1186	CLCN7	HP:0004482	Relative macrocephaly	-	OMIM:615777
1186	CLCN7	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1186	CLCN7	HP:0005789	Generalized osteosclerosis	HP:0040281	ORPHA:53
1186	CLCN7	HP:0005789	Generalized osteosclerosis	HP:0040282	ORPHA:210110
1186	CLCN7	HP:0005789	Generalized osteosclerosis	-	OMIM:166600
1186	CLCN7	HP:0003148	Elevated serum acid phosphatase	-	OMIM:166600
1186	CLCN7	HP:0000823	Delayed puberty	-	OMIM:131300
1186	CLCN7	HP:0000894	Short clavicles	-	OMIM:615777
1186	CLCN7	HP:0004576	Sclerotic vertebral endplates	-	OMIM:611490
1186	CLCN7	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1186	CLCN7	HP:0000980	Pallor	HP:0040281	ORPHA:667
1186	CLCN7	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:667
1186	CLCN7	HP:0000957	Cafe-au-lait spot	1/2	OMIM:618541
1186	CLCN7	HP:0000954	Single transverse palmar crease	1/2	OMIM:618541
1186	CLCN7	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1186	CLCN7	HP:0000967	Petechiae	1/1	OMIM:611490
1186	CLCN7	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:667
1186	CLCN7	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:53
1186	CLCN7	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:667
1186	CLCN7	HP:0000286	Epicanthus	1/2	OMIM:618541
1186	CLCN7	HP:0000286	Epicanthus	1/7	OMIM:615777
1186	CLCN7	HP:0000280	Coarse facial features	2/7	OMIM:615777
1186	CLCN7	HP:0000256	Macrocephaly	HP:0040281	ORPHA:667
1186	CLCN7	HP:0000256	Macrocephaly	HP:0040281	ORPHA:53
1186	CLCN7	HP:0005106	Abnormality of the vertebral endplates	-	OMIM:166600
1186	CLCN7	HP:0002827	Hip dislocation	3/7	OMIM:615777
1186	CLCN7	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:667
1186	CLCN7	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:53
1186	CLCN7	HP:0000252	Microcephaly	-	OMIM:615777
1186	CLCN7	HP:0001561	Polyhydramnios	1/2	OMIM:618541
1186	CLCN7	HP:0002857	Genu valgum	-	OMIM:131300
1186	CLCN7	HP:0002857	Genu valgum	HP:0040282	ORPHA:53
1186	CLCN7	HP:0001533	Slender build	-	OMIM:131300
1186	CLCN7	HP:0001511	Intrauterine growth retardation	1/2	OMIM:618541
1186	CLCN7	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1186	CLCN7	HP:0001510	Growth delay	2/2	OMIM:618541
1186	CLCN7	HP:0001510	Growth delay	HP:0040281	ORPHA:667
1186	CLCN7	HP:0001510	Growth delay	-	OMIM:611490
1186	CLCN7	HP:0007807	Optic nerve compression	HP:0040281	ORPHA:667
1186	CLCN7	HP:0007807	Optic nerve compression	-	OMIM:131300
1186	CLCN7	HP:0012378	Fatigue	HP:0040282	ORPHA:53
1186	CLCN7	HP:0012368	Flat face	7/7	OMIM:615777
1186	CLCN7	HP:0000388	Otitis media	HP:0040281	ORPHA:667
1186	CLCN7	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1186	CLCN7	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:667
1186	CLCN7	HP:0002901	Hypocalcemia	-	ORPHA:210110
1186	CLCN7	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:53
1186	CLCN7	HP:0006482	Abnormal dental morphology	HP:0040284	ORPHA:210110
1186	CLCN7	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:667
1186	CLCN7	HP:0000365	Hearing impairment	HP:0040283	ORPHA:53
1186	CLCN7	HP:0000365	Hearing impairment	HP:0040281	ORPHA:667
1186	CLCN7	HP:0000365	Hearing impairment	10/67	OMIM:131300
1186	CLCN7	HP:0000343	Long philtrum	1/7	OMIM:615777
1186	CLCN7	HP:0011002	Osteopetrosis	0/2	OMIM:618541
1186	CLCN7	HP:0011002	Osteopetrosis	2/2	OMIM:611490
1186	CLCN7	HP:0011002	Osteopetrosis	-	OMIM:166600
1186	CLCN7	HP:0011002	Osteopetrosis	HP:0040281	ORPHA:667
1186	CLCN7	HP:0011001	Increased bone mineral density	2/2	OMIM:611490
1186	CLCN7	HP:0011001	Increased bone mineral density	-	OMIM:131300
1186	CLCN7	HP:0000316	Hypertelorism	1/2	OMIM:618541
1186	CLCN7	HP:0000311	Round face	2/7	OMIM:615777
1186	CLCN7	HP:0001622	Premature birth	2/2	OMIM:618541
1186	CLCN7	HP:0001641	Abnormal pulmonary valve morphology	HP:0040283	ORPHA:667
1186	CLCN7	HP:0002970	Genu varum	-	OMIM:615777
1186	CLCN7	HP:0000303	Mandibular prognathia	-	OMIM:131300
1186	CLCN7	HP:0007958	Optic atrophy from cranial nerve compression	HP:0040284	ORPHA:210110
1186	CLCN7	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1186	CLCN7	HP:0000470	Short neck	1/7	OMIM:615777
1186	CLCN7	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1186	CLCN7	HP:0001763	Pes planus	1/7	OMIM:615777
1186	CLCN7	HP:0001744	Splenomegaly	1/2	OMIM:618541
1186	CLCN7	HP:0001744	Splenomegaly	HP:0040281	ORPHA:667
1186	CLCN7	HP:0001744	Splenomegaly	1/2	OMIM:611490
1186	CLCN7	HP:0001840	Metatarsus adductus	-	OMIM:615777
1186	CLCN7	HP:0000520	Proptosis	2/4	OMIM:131300
1186	CLCN7	HP:0000520	Proptosis	7/7	OMIM:615777
1186	CLCN7	HP:0000505	Visual impairment	HP:0040281	ORPHA:667
1186	CLCN7	HP:0000505	Visual impairment	-	OMIM:611490
1186	CLCN7	HP:0000505	Visual impairment	HP:0040284	ORPHA:53
1186	CLCN7	HP:0000505	Visual impairment	HP:0040284	ORPHA:210110
1186	CLCN7	HP:0000592	Blue sclerae	2/7	OMIM:615777
1186	CLCN7	HP:0000572	Visual loss	-	OMIM:166600
1186	CLCN7	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1186	CLCN7	HP:0001881	Abnormal leukocyte morphology	HP:0040283	ORPHA:53
1186	CLCN7	HP:0012514	Lower limb pain	4/4	OMIM:131300
1186	CLCN7	HP:0000543	Optic disc pallor	11/12	OMIM:611490
1186	CLCN7	HP:0001873	Thrombocytopenia	1/1	OMIM:611490
1186	CLCN7	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:53
1186	CLCN7	HP:0001873	Thrombocytopenia	-	ORPHA:210110
1187	CLCNKA	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:89938
1187	CLCNKA	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040281	ORPHA:89938
1187	CLCNKA	HP:0001290	Generalized hypotonia	-	OMIM:613090
1187	CLCNKA	HP:0001270	Motor delay	-	OMIM:613090
1187	CLCNKA	HP:0001270	Motor delay	HP:0040282	ORPHA:89938
1187	CLCNKA	HP:0001252	Hypotonia	-	OMIM:613090
1187	CLCNKA	HP:0001252	Hypotonia	HP:0040282	ORPHA:89938
1187	CLCNKA	HP:0001249	Intellectual disability	-	OMIM:613090
1187	CLCNKA	HP:0001265	Hyporeflexia	-	OMIM:613090
1187	CLCNKA	HP:0010984	Digenic inheritance	-	OMIM:613090
1187	CLCNKA	HP:0000083	Renal insufficiency	-	OMIM:613090
1187	CLCNKA	HP:0025335	Delayed ability to stand	HP:0040282	ORPHA:89938
1187	CLCNKA	HP:0001324	Muscle weakness	HP:0040282	ORPHA:89938
1187	CLCNKA	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:89938
1187	CLCNKA	HP:0000127	Renal salt wasting	HP:0040281	ORPHA:89938
1187	CLCNKA	HP:0000127	Renal salt wasting	-	OMIM:613090
1187	CLCNKA	HP:0000103	Polyuria	-	OMIM:613090
1187	CLCNKA	HP:0002013	Vomiting	HP:0040283	ORPHA:89938
1187	CLCNKA	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:89938
1187	CLCNKA	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:89938
1187	CLCNKA	HP:0004727	Impaired renal concentrating ability	HP:0040281	ORPHA:89938
1187	CLCNKA	HP:0003577	Congenital onset	-	OMIM:613090
1187	CLCNKA	HP:0003527	Hyperprostaglandinuria	HP:0040282	ORPHA:89938
1187	CLCNKA	HP:0002312	Clumsiness	HP:0040283	ORPHA:89938
1187	CLCNKA	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	-	OMIM:613090
1187	CLCNKA	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:89938
1187	CLCNKA	HP:0012605	Hypernatriuria	-	OMIM:613090
1187	CLCNKA	HP:0001944	Dehydration	HP:0040283	ORPHA:89938
1187	CLCNKA	HP:0001960	Hypokalemic metabolic alkalosis	HP:0040281	ORPHA:89938
1187	CLCNKA	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:89938
1187	CLCNKA	HP:0003081	Increased urinary potassium	HP:0040282	ORPHA:89938
1187	CLCNKA	HP:0003081	Increased urinary potassium	-	OMIM:613090
1187	CLCNKA	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:89938
1187	CLCNKA	HP:0000712	Emotional lability	HP:0040283	ORPHA:89938
1187	CLCNKA	HP:0003113	Hypochloremia	HP:0040282	ORPHA:89938
1187	CLCNKA	HP:0003113	Hypochloremia	-	OMIM:613090
1187	CLCNKA	HP:0000859	Increased circulating aldosterone concentration	HP:0040281	ORPHA:89938
1187	CLCNKA	HP:0000859	Increased circulating aldosterone concentration	-	OMIM:613090
1187	CLCNKA	HP:0000848	Increased circulating renin concentration	HP:0040281	ORPHA:89938
1187	CLCNKA	HP:0000841	Hyperactive renin-angiotensin system	HP:0040281	ORPHA:89938
1187	CLCNKA	HP:0000822	Hypertension	-	ORPHA:89938
1187	CLCNKA	HP:0000969	Edema	-	OMIM:613090
1187	CLCNKA	HP:0012213	Decreased glomerular filtration rate	-	OMIM:613090
1187	CLCNKA	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:89938
1187	CLCNKA	HP:0001561	Polyhydramnios	-	OMIM:613090
1187	CLCNKA	HP:0001563	Fetal polyuria	-	OMIM:613090
1187	CLCNKA	HP:0001525	Severe failure to thrive	HP:0040283	ORPHA:89938
1187	CLCNKA	HP:0001508	Failure to thrive	-	OMIM:613090
1187	CLCNKA	HP:0001508	Failure to thrive	HP:0040282	ORPHA:89938
1187	CLCNKA	HP:0001518	Small for gestational age	HP:0040282	ORPHA:89938
1187	CLCNKA	HP:0002917	Hypomagnesemia	HP:0040282	ORPHA:89938
1187	CLCNKA	HP:0002914	Hyperchloriduria	-	OMIM:613090
1187	CLCNKA	HP:0002902	Hyponatremia	HP:0040282	ORPHA:89938
1187	CLCNKA	HP:0002902	Hyponatremia	-	OMIM:613090
1187	CLCNKA	HP:0002900	Hypokalemia	HP:0040281	ORPHA:89938
1187	CLCNKA	HP:0002900	Hypokalemia	-	OMIM:613090
1187	CLCNKA	HP:0000325	Triangular face	HP:0040284	ORPHA:89938
1187	CLCNKA	HP:0001622	Premature birth	HP:0040282	ORPHA:89938
1187	CLCNKA	HP:0001622	Premature birth	-	OMIM:613090
1187	CLCNKA	HP:0000407	Sensorineural hearing impairment	-	OMIM:613090
1187	CLCNKA	HP:0000411	Protruding ear	HP:0040284	ORPHA:89938
1188	CLCNKB	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:89938
1188	CLCNKB	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040281	ORPHA:89938
1188	CLCNKB	HP:0001290	Generalized hypotonia	-	OMIM:613090
1188	CLCNKB	HP:0001270	Motor delay	-	OMIM:613090
1188	CLCNKB	HP:0001270	Motor delay	HP:0040282	ORPHA:89938
1188	CLCNKB	HP:0001279	Syncope	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0001252	Hypotonia	-	OMIM:613090
1188	CLCNKB	HP:0001252	Hypotonia	HP:0040282	ORPHA:89938
1188	CLCNKB	HP:0001249	Intellectual disability	-	OMIM:613090
1188	CLCNKB	HP:0001265	Hyporeflexia	-	OMIM:613090
1188	CLCNKB	HP:0001262	Excessive daytime somnolence	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0010984	Digenic inheritance	-	OMIM:613090
1188	CLCNKB	HP:0002514	Cerebral calcification	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0000083	Renal insufficiency	-	OMIM:613090
1188	CLCNKB	HP:0000097	Focal segmental glomerulosclerosis	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0000093	Proteinuria	HP:0040283	ORPHA:358
1188	CLCNKB	HP:0025335	Delayed ability to stand	HP:0040282	ORPHA:89938
1188	CLCNKB	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0000017	Nocturia	HP:0040283	ORPHA:358
1188	CLCNKB	HP:0001324	Muscle weakness	HP:0040282	ORPHA:358
1188	CLCNKB	HP:0001324	Muscle weakness	HP:0040282	ORPHA:89938
1188	CLCNKB	HP:0000007	Autosomal recessive inheritance	-	OMIM:607364
1188	CLCNKB	HP:0002632	Low-to-normal blood pressure	HP:0040282	ORPHA:358
1188	CLCNKB	HP:0002619	Varicose veins	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0002615	Hypotension	-	OMIM:607364
1188	CLCNKB	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:89938
1188	CLCNKB	HP:0000121	Nephrocalcinosis	0/17	OMIM:607364
1188	CLCNKB	HP:0000128	Renal potassium wasting	HP:0040283	ORPHA:358
1188	CLCNKB	HP:0000128	Renal potassium wasting	-	OMIM:607364
1188	CLCNKB	HP:0000127	Renal salt wasting	HP:0040281	ORPHA:89938
1188	CLCNKB	HP:0000127	Renal salt wasting	-	OMIM:613090
1188	CLCNKB	HP:0000127	Renal salt wasting	-	OMIM:607364
1188	CLCNKB	HP:0000103	Polyuria	-	OMIM:613090
1188	CLCNKB	HP:0000103	Polyuria	-	OMIM:607364
1188	CLCNKB	HP:0002019	Constipation	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:358
1188	CLCNKB	HP:0002027	Abdominal pain	HP:0040282	ORPHA:358
1188	CLCNKB	HP:0003326	Myalgia	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0002014	Diarrhea	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0002013	Vomiting	HP:0040283	ORPHA:89938
1188	CLCNKB	HP:0003324	Generalized muscle weakness	-	OMIM:607364
1188	CLCNKB	HP:0005978	Type II diabetes mellitus	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0002098	Respiratory distress	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0003394	Muscle spasm	HP:0040283	ORPHA:358
1188	CLCNKB	HP:0011736	Primary hyperaldosteronism	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:89938
1188	CLCNKB	HP:0003470	Paralysis	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:89938
1188	CLCNKB	HP:0003401	Paresthesia	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0004727	Impaired renal concentrating ability	HP:0040281	ORPHA:89938
1188	CLCNKB	HP:0003593	Infantile onset	6/17	OMIM:607364
1188	CLCNKB	HP:0003577	Congenital onset	-	OMIM:613090
1188	CLCNKB	HP:0003577	Congenital onset	5/17	OMIM:607364
1188	CLCNKB	HP:0200114	Metabolic alkalosis	HP:0040283	ORPHA:358
1188	CLCNKB	HP:0003527	Hyperprostaglandinuria	HP:0040282	ORPHA:89938
1188	CLCNKB	HP:0100785	Insomnia	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0002321	Vertigo	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0002315	Headache	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0100651	Type I diabetes mellitus	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0100647	Graves disease	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0025072	Prominent U wave	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0009800	Maternal diabetes	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0002312	Clumsiness	HP:0040283	ORPHA:89938
1188	CLCNKB	HP:0003621	Juvenile onset	3/17	OMIM:607364
1188	CLCNKB	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	-	OMIM:613090
1188	CLCNKB	HP:0005579	Impaired renal tubular reabsorption of chloride	-	OMIM:607364
1188	CLCNKB	HP:0001970	Tubulointerstitial nephritis	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:89938
1188	CLCNKB	HP:0001962	Palpitations	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0012605	Hypernatriuria	-	OMIM:613090
1188	CLCNKB	HP:0001947	Renal tubular acidosis	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0001944	Dehydration	HP:0040283	ORPHA:89938
1188	CLCNKB	HP:0001944	Dehydration	-	OMIM:607364
1188	CLCNKB	HP:0000610	Abnormal choroid morphology	-	OMIM:607364
1188	CLCNKB	HP:0001960	Hypokalemic metabolic alkalosis	HP:0040281	ORPHA:89938
1188	CLCNKB	HP:0001960	Hypokalemic metabolic alkalosis	-	OMIM:607364
1188	CLCNKB	HP:0001959	Polydipsia	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0000622	Blurred vision	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0001953	Diabetic ketoacidosis	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0001952	Glucose intolerance	HP:0040283	ORPHA:358
1188	CLCNKB	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:89938
1188	CLCNKB	HP:0001994	Renal Fanconi syndrome	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0001997	Gout	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0003081	Increased urinary potassium	HP:0040282	ORPHA:89938
1188	CLCNKB	HP:0003081	Increased urinary potassium	-	OMIM:613090
1188	CLCNKB	HP:0003081	Increased urinary potassium	-	OMIM:607364
1188	CLCNKB	HP:0000805	Enuresis	HP:0040283	ORPHA:358
1188	CLCNKB	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:89938
1188	CLCNKB	HP:0000712	Emotional lability	HP:0040283	ORPHA:89938
1188	CLCNKB	HP:0011463	Childhood onset	3/17	OMIM:607364
1188	CLCNKB	HP:0003113	Hypochloremia	HP:0040282	ORPHA:89938
1188	CLCNKB	HP:0003113	Hypochloremia	-	OMIM:613090
1188	CLCNKB	HP:0003127	Hypocalciuria	11/17	OMIM:607364
1188	CLCNKB	HP:0000872	Hashimoto thyroiditis	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0000859	Increased circulating aldosterone concentration	HP:0040281	ORPHA:89938
1188	CLCNKB	HP:0000859	Increased circulating aldosterone concentration	-	OMIM:613090
1188	CLCNKB	HP:0000859	Increased circulating aldosterone concentration	-	OMIM:607364
1188	CLCNKB	HP:0000855	Insulin resistance	HP:0040283	ORPHA:358
1188	CLCNKB	HP:0100324	Scleroderma	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0000848	Increased circulating renin concentration	HP:0040281	ORPHA:89938
1188	CLCNKB	HP:0000848	Increased circulating renin concentration	-	OMIM:607364
1188	CLCNKB	HP:0000841	Hyperactive renin-angiotensin system	HP:0040281	ORPHA:89938
1188	CLCNKB	HP:0000841	Hyperactive renin-angiotensin system	-	OMIM:607364
1188	CLCNKB	HP:0000822	Hypertension	-	ORPHA:89938
1188	CLCNKB	HP:0000823	Delayed puberty	HP:0040283	ORPHA:358
1188	CLCNKB	HP:0030880	Raynaud phenomenon	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0003201	Rhabdomyolysis	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0000975	Hyperhidrosis	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0000969	Edema	-	OMIM:613090
1188	CLCNKB	HP:0000934	Chondrocalcinosis	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0008046	Abnormal retinal vascular morphology	-	OMIM:607364
1188	CLCNKB	HP:0012248	Prolonged PR interval	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0012250	ST segment depression	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0005135	Abnormal T-wave	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0002829	Arthralgia	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0030083	Salt craving	HP:0040283	ORPHA:358
1188	CLCNKB	HP:0002897	Parathyroid adenoma	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0012213	Decreased glomerular filtration rate	-	OMIM:613090
1188	CLCNKB	HP:0002894	Neoplasm of the pancreas	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:89938
1188	CLCNKB	HP:0001561	Polyhydramnios	-	OMIM:613090
1188	CLCNKB	HP:0001563	Fetal polyuria	-	OMIM:613090
1188	CLCNKB	HP:0001525	Severe failure to thrive	HP:0040283	ORPHA:89938
1188	CLCNKB	HP:0001508	Failure to thrive	-	OMIM:613090
1188	CLCNKB	HP:0001508	Failure to thrive	HP:0040282	ORPHA:358
1188	CLCNKB	HP:0001508	Failure to thrive	HP:0040282	ORPHA:89938
1188	CLCNKB	HP:0001518	Small for gestational age	HP:0040282	ORPHA:89938
1188	CLCNKB	HP:0012364	Decreased urinary potassium	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0002917	Hypomagnesemia	HP:0040282	ORPHA:89938
1188	CLCNKB	HP:0002917	Hypomagnesemia	HP:0040282	ORPHA:358
1188	CLCNKB	HP:0002918	Hypermagnesemia	HP:0040283	ORPHA:358
1188	CLCNKB	HP:0002914	Hyperchloriduria	-	OMIM:613090
1188	CLCNKB	HP:0002914	Hyperchloriduria	-	OMIM:607364
1188	CLCNKB	HP:0002902	Hyponatremia	HP:0040282	ORPHA:89938
1188	CLCNKB	HP:0002902	Hyponatremia	-	OMIM:613090
1188	CLCNKB	HP:0002900	Hypokalemia	HP:0040281	ORPHA:89938
1188	CLCNKB	HP:0002900	Hypokalemia	-	OMIM:613090
1188	CLCNKB	HP:0002900	Hypokalemia	17/17	OMIM:607364
1188	CLCNKB	HP:0002900	Hypokalemia	HP:0040281	ORPHA:358
1188	CLCNKB	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:358
1188	CLCNKB	HP:0000360	Tinnitus	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0001698	Pericardial effusion	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0001663	Ventricular fibrillation	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0001657	Prolonged QT interval	HP:0040282	ORPHA:358
1188	CLCNKB	HP:0000325	Triangular face	HP:0040284	ORPHA:89938
1188	CLCNKB	HP:0001622	Premature birth	HP:0040282	ORPHA:89938
1188	CLCNKB	HP:0001622	Premature birth	-	OMIM:613090
1188	CLCNKB	HP:0000407	Sensorineural hearing impairment	-	OMIM:613090
1188	CLCNKB	HP:0000411	Protruding ear	HP:0040284	ORPHA:89938
1188	CLCNKB	HP:0006789	Mitochondrial encephalopathy	HP:0040284	ORPHA:358
1188	CLCNKB	HP:0000591	Abnormal sclera morphology	-	OMIM:607364
1188	CLCNKB	HP:0001891	Iron deficiency anemia	HP:0040284	ORPHA:358
1193	CLIC2	HP:0001172	Abnormal thumb morphology	HP:0040282	ORPHA:324410
1193	CLIC2	HP:0002465	Poor speech	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0001250	Seizure	HP:0040282	ORPHA:324410
1193	CLIC2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:324410
1193	CLIC2	HP:0002540	Inability to walk	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0000053	Macroorchidism	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0001344	Absent speech	HP:0040282	ORPHA:324410
1193	CLIC2	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0003376	Steppage gait	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0004749	Atrial flutter	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0002187	Intellectual disability, profound	HP:0040282	ORPHA:324410
1193	CLIC2	HP:0010808	Protruding tongue	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0005781	Contractures of the large joints	HP:0040282	ORPHA:324410
1193	CLIC2	HP:0000280	Coarse facial features	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0000232	Everted lower lip vermilion	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0000396	Overfolded helix	HP:0040282	ORPHA:324410
1193	CLIC2	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:324410
1193	CLIC2	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:324410
1193	CLIC2	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0000400	Macrotia	HP:0040282	ORPHA:324410
1193	CLIC2	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0000414	Bulbous nose	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:324410
1193	CLIC2	HP:0006705	Abnormal atrioventricular valve morphology	HP:0040282	ORPHA:324410
1200	TPP1	HP:0001152	Saccadic smooth pursuit	HP:0040282	ORPHA:284324
1200	TPP1	HP:0001152	Saccadic smooth pursuit	1/6	OMIM:609270
1200	TPP1	HP:0002495	Impaired vibratory sensation	HP:0040282	ORPHA:284324
1200	TPP1	HP:0002495	Impaired vibratory sensation	3/6	OMIM:609270
1200	TPP1	HP:6000571	Reduced tissue tripeptidyl peptidase 1 activity	2/2	OMIM:204500
1200	TPP1	HP:0007240	Progressive gait ataxia	HP:0040282	ORPHA:284324
1200	TPP1	HP:0001272	Cerebellar atrophy	7/7	OMIM:609270
1200	TPP1	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:284324
1200	TPP1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:284324
1200	TPP1	HP:0001250	Seizure	-	ORPHA:284324
1200	TPP1	HP:0001250	Seizure	-	OMIM:204500
1200	TPP1	HP:0001251	Ataxia	6/6	OMIM:609270
1200	TPP1	HP:0001251	Ataxia	-	OMIM:204500
1200	TPP1	HP:0001260	Dysarthria	1/6	OMIM:609270
1200	TPP1	HP:0001260	Dysarthria	HP:0040282	ORPHA:284324
1200	TPP1	HP:0007338	Hypermetric saccades	1/6	OMIM:609270
1200	TPP1	HP:0001347	Hyperreflexia	1/6	OMIM:609270
1200	TPP1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:284324
1200	TPP1	HP:0000012	Urinary urgency	1/6	OMIM:609270
1200	TPP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:609270
1200	TPP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:204500
1200	TPP1	HP:0001336	Myoclonus	-	OMIM:204500
1200	TPP1	HP:0001311	Abnormal nervous system electrophysiology	-	OMIM:204500
1200	TPP1	HP:0001310	Dysmetria	1/1	OMIM:609270
1200	TPP1	HP:0001310	Dysmetria	HP:0040282	ORPHA:284324
1200	TPP1	HP:0002015	Dysphagia	1/6	OMIM:609270
1200	TPP1	HP:0002066	Gait ataxia	1/6	OMIM:609270
1200	TPP1	HP:0002074	Increased neuronal autofluorescent lipopigment	-	OMIM:204500
1200	TPP1	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:284324
1200	TPP1	HP:0002070	Limb ataxia	1/6	OMIM:609270
1200	TPP1	HP:0002070	Limb ataxia	HP:0040282	ORPHA:284324
1200	TPP1	HP:0002059	Cerebral atrophy	-	OMIM:204500
1200	TPP1	HP:0003487	Babinski sign	1/6	OMIM:609270
1200	TPP1	HP:0003487	Babinski sign	HP:0040282	ORPHA:284324
1200	TPP1	HP:0002136	Broad-based gait	HP:0040282	ORPHA:284324
1200	TPP1	HP:0003463	Increased extraneuronal autofluorescent lipopigment	-	OMIM:204500
1200	TPP1	HP:0003445	EMG: neuropathic changes	HP:0040283	ORPHA:284324
1200	TPP1	HP:0002168	Scanning speech	HP:0040282	ORPHA:284324
1200	TPP1	HP:0002168	Scanning speech	1/1	OMIM:609270
1200	TPP1	HP:0002174	Postural tremor	HP:0040283	ORPHA:284324
1200	TPP1	HP:0002174	Postural tremor	5/6	OMIM:609270
1200	TPP1	HP:0002376	Developmental regression	-	OMIM:204500
1200	TPP1	HP:0003677	Slowly progressive	-	OMIM:609270
1200	TPP1	HP:0002317	Unsteady gait	1/1	OMIM:609270
1200	TPP1	HP:0002312	Clumsiness	1/6	OMIM:609270
1200	TPP1	HP:0002312	Clumsiness	HP:0040282	ORPHA:284324
1200	TPP1	HP:0000639	Nystagmus	1/1	OMIM:609270
1200	TPP1	HP:0000651	Diplopia	1/6	OMIM:609270
1200	TPP1	HP:0000651	Diplopia	HP:0040282	ORPHA:284324
1200	TPP1	HP:0000641	Dysmetric saccades	HP:0040282	ORPHA:284324
1200	TPP1	HP:0000657	Oculomotor apraxia	1/1	OMIM:609270
1200	TPP1	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:284324
1200	TPP1	HP:0000666	Horizontal nystagmus	HP:0040282	ORPHA:284324
1200	TPP1	HP:0000750	Delayed speech and language development	-	OMIM:204500
1200	TPP1	HP:0011463	Childhood onset	6/7	OMIM:609270
1200	TPP1	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	-	OMIM:204500
1200	TPP1	HP:0030147	Truncal titubation	1/1	OMIM:609270
1200	TPP1	HP:0025708	Early young adult onset	1/6	OMIM:609270
1200	TPP1	HP:0000529	Progressive visual loss	-	OMIM:204500
1200	TPP1	HP:0000550	Undetectable electroretinogram	-	OMIM:204500
1200	TPP1	HP:0000546	Retinal degeneration	-	OMIM:204500
1201	CLN3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
1201	CLN3	HP:0001250	Seizure	-	OMIM:204200
1201	CLN3	HP:0001249	Intellectual disability	-	OMIM:204200
1201	CLN3	HP:0001260	Dysarthria	-	OMIM:204200
1201	CLN3	HP:0002505	Loss of ambulation	1/1	OMIM:204200
1201	CLN3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
1201	CLN3	HP:0000007	Autosomal recessive inheritance	-	OMIM:204200
1201	CLN3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
1201	CLN3	HP:0001336	Myoclonus	-	OMIM:204200
1201	CLN3	HP:0001317	Abnormal cerebellum morphology	-	OMIM:204200
1201	CLN3	HP:0001300	Parkinsonism	1/1	OMIM:204200
1201	CLN3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
1201	CLN3	HP:0007663	Reduced visual acuity	1/1	OMIM:204200
1201	CLN3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
1201	CLN3	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:204200
1201	CLN3	HP:0002074	Increased neuronal autofluorescent lipopigment	-	OMIM:204200
1201	CLN3	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:204200
1201	CLN3	HP:0002059	Cerebral atrophy	-	OMIM:204200
1201	CLN3	HP:0003463	Increased extraneuronal autofluorescent lipopigment	-	OMIM:204200
1201	CLN3	HP:0002361	Psychomotor deterioration	1/1	OMIM:204200
1201	CLN3	HP:0003621	Juvenile onset	1/1	OMIM:204200
1201	CLN3	HP:0003621	Juvenile onset	8/19	OMIM:180100
1201	CLN3	HP:0000648	Optic atrophy	-	OMIM:204200
1201	CLN3	HP:0000618	Blindness	-	OMIM:204200
1201	CLN3	HP:0001922	Vacuolated lymphocytes	1/1	OMIM:204200
1201	CLN3	HP:0000608	Macular degeneration	-	OMIM:204200
1201	CLN3	HP:0000662	Nyctalopia	26/28	OMIM:180100
1201	CLN3	HP:0000739	Anxiety	-	OMIM:204200
1201	CLN3	HP:0000726	Dementia	-	OMIM:204200
1201	CLN3	HP:0000709	Psychosis	-	OMIM:204200
1201	CLN3	HP:0011463	Childhood onset	3/19	OMIM:180100
1201	CLN3	HP:0011462	Young adult onset	8/19	OMIM:180100
1201	CLN3	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	1/1	OMIM:204200
1201	CLN3	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	-	OMIM:204200
1201	CLN3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
1201	CLN3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
1201	CLN3	HP:0005157	Concentric hypertrophic cardiomyopathy	-	OMIM:204200
1201	CLN3	HP:0000518	Cataract	-	OMIM:204200
1201	CLN3	HP:0000510	Rod-cone dystrophy	-	OMIM:204200
1201	CLN3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
1201	CLN3	HP:0000529	Progressive visual loss	1/1	OMIM:204200
1201	CLN3	HP:0000501	Glaucoma	-	OMIM:204200
1201	CLN3	HP:0000575	Scotoma	5/18	OMIM:180100
1201	CLN3	HP:0000550	Undetectable electroretinogram	-	OMIM:204200
1201	CLN3	HP:0000546	Retinal degeneration	1/1	OMIM:204200
1201	CLN3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
1201	CLN3	HP:0000545	Myopia	-	OMIM:180100
1203	CLN5	HP:0001272	Cerebellar atrophy	2/2	OMIM:256731
1203	CLN5	HP:0001250	Seizure	2/2	OMIM:256731
1203	CLN5	HP:0001251	Ataxia	-	OMIM:256731
1203	CLN5	HP:0001249	Intellectual disability	-	OMIM:256731
1203	CLN5	HP:0001260	Dysarthria	HP:0040283	OMIM:256731
1203	CLN5	HP:0002505	Loss of ambulation	2/2	OMIM:256731
1203	CLN5	HP:0000007	Autosomal recessive inheritance	-	OMIM:256731
1203	CLN5	HP:0001336	Myoclonus	2/2	OMIM:256731
1203	CLN5	HP:0001311	Abnormal nervous system electrophysiology	-	OMIM:256731
1203	CLN5	HP:0001310	Dysmetria	HP:0040283	OMIM:256731
1203	CLN5	HP:0002074	Increased neuronal autofluorescent lipopigment	-	OMIM:256731
1203	CLN5	HP:0002075	Dysdiadochokinesis	HP:0040283	OMIM:256731
1203	CLN5	HP:0002120	Cerebral cortical atrophy	2/2	OMIM:256731
1203	CLN5	HP:0200085	Limb tremor	2/2	OMIM:256731
1203	CLN5	HP:0002376	Developmental regression	-	OMIM:256731
1203	CLN5	HP:0002333	Motor deterioration	-	OMIM:256731
1203	CLN5	HP:0002312	Clumsiness	-	OMIM:256731
1203	CLN5	HP:0003621	Juvenile onset	2/2	OMIM:256731
1203	CLN5	HP:0000639	Nystagmus	HP:0040283	OMIM:256731
1203	CLN5	HP:0001922	Vacuolated lymphocytes	0/2	OMIM:256731
1203	CLN5	HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	-	OMIM:256731
1203	CLN5	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	-	OMIM:256731
1203	CLN5	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	-	OMIM:256731
1203	CLN5	HP:0000529	Progressive visual loss	2/2	OMIM:256731
1203	CLN5	HP:0000546	Retinal degeneration	-	OMIM:256731
1213	CLTC	HP:0007301	Oromotor apraxia	2/12	OMIM:617854
1213	CLTC	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
1213	CLTC	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
1213	CLTC	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
1213	CLTC	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
1213	CLTC	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
1213	CLTC	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
1213	CLTC	HP:0001250	Seizure	5/23	OMIM:617854
1213	CLTC	HP:0001250	Seizure	HP:0040282	ORPHA:442835
1213	CLTC	HP:0001252	Hypotonia	7/12	OMIM:617854
1213	CLTC	HP:0001251	Ataxia	3/12	OMIM:617854
1213	CLTC	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
1213	CLTC	HP:0001249	Intellectual disability	11/11	OMIM:617854
1213	CLTC	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
1213	CLTC	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
1213	CLTC	HP:0001263	Global developmental delay	9/12	OMIM:617854
1213	CLTC	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
1213	CLTC	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
1213	CLTC	HP:0001257	Spasticity	1/12	OMIM:617854
1213	CLTC	HP:0002540	Inability to walk	1/12	OMIM:617854
1213	CLTC	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
1213	CLTC	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
1213	CLTC	HP:0001332	Dystonia	1/12	OMIM:617854
1213	CLTC	HP:0033725	Thin corpus callosum	2/12	OMIM:617854
1213	CLTC	HP:0001344	Absent speech	1/12	OMIM:617854
1213	CLTC	HP:0001337	Tremor	HP:0040283	ORPHA:442835
1213	CLTC	HP:0000006	Autosomal dominant inheritance	-	OMIM:617854
1213	CLTC	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
1213	CLTC	HP:0001336	Myoclonus	2/12	OMIM:617854
1213	CLTC	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
1213	CLTC	HP:0000194	Open mouth	-	OMIM:617854
1213	CLTC	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
1213	CLTC	HP:0002020	Gastroesophageal reflux	1/12	OMIM:617854
1213	CLTC	HP:0002067	Bradykinesia	1/12	OMIM:617854
1213	CLTC	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
1213	CLTC	HP:0002061	Lower limb spasticity	1/12	OMIM:617854
1213	CLTC	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
1213	CLTC	HP:0002136	Broad-based gait	1/12	OMIM:617854
1213	CLTC	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
1213	CLTC	HP:0002188	Delayed CNS myelination	2/12	OMIM:617854
1213	CLTC	HP:0003593	Infantile onset	-	OMIM:617854
1213	CLTC	HP:0100710	Impulsivity	1/12	OMIM:617854
1213	CLTC	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
1213	CLTC	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
1213	CLTC	HP:0007018	Attention deficit hyperactivity disorder	2/12	OMIM:617854
1213	CLTC	HP:0011968	Feeding difficulties	2/12	OMIM:617854
1213	CLTC	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
1213	CLTC	HP:0002385	Paraparesis	1/12	OMIM:617854
1213	CLTC	HP:0002375	Hypokinesia	1/12	OMIM:617854
1213	CLTC	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
1213	CLTC	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
1213	CLTC	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
1213	CLTC	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
1213	CLTC	HP:0002312	Clumsiness	1/12	OMIM:617854
1213	CLTC	HP:0031843	Abnormally slow thought process	1/12	OMIM:617854
1213	CLTC	HP:0006879	Pontocerebellar atrophy	1/12	OMIM:617854
1213	CLTC	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
1213	CLTC	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
1213	CLTC	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
1213	CLTC	HP:0004322	Short stature	HP:0040283	ORPHA:442835
1213	CLTC	HP:0006956	Lateral ventricle dilatation	1/12	OMIM:617854
1213	CLTC	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
1213	CLTC	HP:0000736	Short attention span	1/12	OMIM:617854
1213	CLTC	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
1213	CLTC	HP:0000717	Autism	HP:0040283	ORPHA:442835
1213	CLTC	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
1213	CLTC	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
1213	CLTC	HP:0012760	Reduced social responsiveness	2/12	OMIM:617854
1213	CLTC	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
1213	CLTC	HP:0000219	Thin upper lip vermilion	-	OMIM:617854
1213	CLTC	HP:0000218	High palate	-	OMIM:617854
1213	CLTC	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
1213	CLTC	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
1213	CLTC	HP:0000343	Long philtrum	-	OMIM:617854
1213	CLTC	HP:0000338	Hypomimic face	1/12	OMIM:617854
1213	CLTC	HP:0000348	High forehead	HP:0040283	ORPHA:442835
1213	CLTC	HP:0000407	Sensorineural hearing impairment	1/12	OMIM:617854
1213	CLTC	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
1213	CLTC	HP:0012448	Delayed myelination	1/12	OMIM:617854
1213	CLTC	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
1213	CLTC	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
1213	CLTC	HP:0000411	Protruding ear	-	OMIM:617854
1213	CLTC	HP:0005484	Secondary microcephaly	2/12	OMIM:617854
1213	CLTC	HP:0000508	Ptosis	1/12	OMIM:617854
1213	CLTC	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
1213	CLTC	HP:0000505	Visual impairment	1/12	OMIM:617854
1213	CLTC	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
1213	CLTC	HP:0000582	Upslanted palpebral fissure	-	OMIM:617854
1213	CLTC	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
1213	CLTC	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
1230	CCR1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:117
1230	CCR1	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:117
1230	CCR1	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:117
1230	CCR1	HP:0001269	Hemiparesis	HP:0040282	ORPHA:117
1230	CCR1	HP:0001287	Meningitis	HP:0040281	ORPHA:117
1230	CCR1	HP:0001289	Confusion	HP:0040282	ORPHA:117
1230	CCR1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:117
1230	CCR1	HP:0001250	Seizure	HP:0040283	ORPHA:117
1230	CCR1	HP:0001251	Ataxia	HP:0040283	ORPHA:117
1230	CCR1	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:117
1230	CCR1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:117
1230	CCR1	HP:0000099	Glomerulonephritis	HP:0040284	ORPHA:117
1230	CCR1	HP:0001369	Arthritis	HP:0040281	ORPHA:117
1230	CCR1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:117
1230	CCR1	HP:0000031	Epididymitis	HP:0040283	ORPHA:117
1230	CCR1	HP:0002638	Superficial thrombophlebitis	HP:0040282	ORPHA:117
1230	CCR1	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:117
1230	CCR1	HP:0002633	Vasculitis	HP:0040281	ORPHA:117
1230	CCR1	HP:0000155	Oral ulcer	HP:0040281	ORPHA:117
1230	CCR1	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:117
1230	CCR1	HP:0012121	Panuveitis	HP:0040282	ORPHA:117
1230	CCR1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:117
1230	CCR1	HP:0002024	Malabsorption	HP:0040283	ORPHA:117
1230	CCR1	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:117
1230	CCR1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:117
1230	CCR1	HP:0003326	Myalgia	HP:0040281	ORPHA:117
1230	CCR1	HP:0002014	Diarrhea	HP:0040284	ORPHA:117
1230	CCR1	HP:0002076	Migraine	HP:0040281	ORPHA:117
1230	CCR1	HP:0002039	Anorexia	HP:0040283	ORPHA:117
1230	CCR1	HP:0100584	Endocarditis	HP:0040283	ORPHA:117
1230	CCR1	HP:0002102	Pleuritis	HP:0040283	ORPHA:117
1230	CCR1	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:117
1230	CCR1	HP:0002105	Hemoptysis	HP:0040283	ORPHA:117
1230	CCR1	HP:0003401	Paresthesia	HP:0040283	ORPHA:117
1230	CCR1	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:117
1230	CCR1	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:117
1230	CCR1	HP:0002202	Pleural effusion	HP:0040283	ORPHA:117
1230	CCR1	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:117
1230	CCR1	HP:0100796	Orchitis	HP:0040281	ORPHA:117
1230	CCR1	HP:0100758	Gangrene	HP:0040283	ORPHA:117
1230	CCR1	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:117
1230	CCR1	HP:0001061	Acne	HP:0040282	ORPHA:117
1230	CCR1	HP:0002376	Developmental regression	HP:0040283	ORPHA:117
1230	CCR1	HP:0002354	Memory impairment	HP:0040283	ORPHA:117
1230	CCR1	HP:0002321	Vertigo	HP:0040283	ORPHA:117
1230	CCR1	HP:0002315	Headache	HP:0040282	ORPHA:117
1230	CCR1	HP:0100653	Optic neuritis	HP:0040283	ORPHA:117
1230	CCR1	HP:0100654	Retrobulbar optic neuritis	HP:0040283	ORPHA:117
1230	CCR1	HP:0200034	Papule	HP:0040281	ORPHA:117
1230	CCR1	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:117
1230	CCR1	HP:0100614	Myositis	HP:0040283	ORPHA:117
1230	CCR1	HP:0200039	Pustule	HP:0040282	ORPHA:117
1230	CCR1	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:117
1230	CCR1	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:117
1230	CCR1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:117
1230	CCR1	HP:4000041	AA amyloidosis	HP:0040283	ORPHA:117
1230	CCR1	HP:0000618	Blindness	HP:0040283	ORPHA:117
1230	CCR1	HP:0000613	Photophobia	HP:0040281	ORPHA:117
1230	CCR1	HP:0001945	Fever	HP:0040281	ORPHA:117
1230	CCR1	HP:0001954	Recurrent fever	HP:0040283	ORPHA:117
1230	CCR1	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:117
1230	CCR1	HP:0000737	Irritability	HP:0040283	ORPHA:117
1230	CCR1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:117
1230	CCR1	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:117
1230	CCR1	HP:0100326	Immunologic hypersensitivity	HP:0040282	ORPHA:117
1230	CCR1	HP:0012819	Myocarditis	HP:0040283	ORPHA:117
1230	CCR1	HP:0003249	Genital ulcers	HP:0040282	ORPHA:117
1230	CCR1	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:117
1230	CCR1	HP:0002829	Arthralgia	HP:0040282	ORPHA:117
1230	CCR1	HP:0025532	Positive pathergy test	HP:0040282	ORPHA:117
1230	CCR1	HP:0012219	Erythema nodosum	HP:0040282	ORPHA:117
1230	CCR1	HP:0007813	Nongranulomatous uveitis	HP:0040282	ORPHA:117
1230	CCR1	HP:0012378	Fatigue	HP:0040281	ORPHA:117
1230	CCR1	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:117
1230	CCR1	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:117
1230	CCR1	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:117
1230	CCR1	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:117
1230	CCR1	HP:0001733	Pancreatitis	HP:0040283	ORPHA:117
1230	CCR1	HP:0001701	Pericarditis	HP:0040283	ORPHA:117
1230	CCR1	HP:0000488	Retinopathy	HP:0040283	ORPHA:117
1230	CCR1	HP:0011107	Recurrent aphthous stomatitis	HP:0040281	ORPHA:117
1230	CCR1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:117
1230	CCR1	HP:0000518	Cataract	HP:0040283	ORPHA:117
1230	CCR1	HP:0001824	Weight loss	HP:0040283	ORPHA:117
1230	CCR1	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:117
1235	CCR6	HP:0100958	Narrow foramen obturatorium	HP:0040281	ORPHA:220393
1235	CCR6	HP:0100958	Narrow foramen obturatorium	HP:0040281	ORPHA:220402
1235	CCR6	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:220393
1235	CCR6	HP:0001371	Flexion contracture	HP:0040282	ORPHA:220393
1235	CCR6	HP:0001369	Arthritis	HP:0040282	ORPHA:220393
1235	CCR6	HP:0001324	Muscle weakness	HP:0040282	ORPHA:220393
1235	CCR6	HP:0002797	Osteolysis	HP:0040282	ORPHA:220393
1235	CCR6	HP:0002024	Malabsorption	HP:0040282	ORPHA:220393
1235	CCR6	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220402
1235	CCR6	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:220393
1235	CCR6	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:220402
1235	CCR6	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:220393
1235	CCR6	HP:0002015	Dysphagia	HP:0040282	ORPHA:220402
1235	CCR6	HP:0002015	Dysphagia	HP:0040282	ORPHA:220393
1235	CCR6	HP:0002094	Dyspnea	HP:0040281	ORPHA:220393
1235	CCR6	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:220402
1235	CCR6	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:220393
1235	CCR6	HP:0100520	Oliguria	HP:0040281	ORPHA:220393
1235	CCR6	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:220402
1235	CCR6	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:220393
1235	CCR6	HP:0100579	Mucosal telangiectasiae	HP:0040282	ORPHA:220402
1235	CCR6	HP:0009473	Joint contracture of the hand	HP:0040283	ORPHA:220402
1235	CCR6	HP:0002113	Pulmonary infiltrates	HP:0040281	ORPHA:220393
1235	CCR6	HP:0002206	Pulmonary fibrosis	HP:0040283	ORPHA:220402
1235	CCR6	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:220393
1235	CCR6	HP:0100735	Hypertensive crisis	HP:0040283	ORPHA:220393
1235	CCR6	HP:0008366	Foot joint contracture	HP:0040283	ORPHA:220402
1235	CCR6	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:220402
1235	CCR6	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:220402
1235	CCR6	HP:0200042	Skin ulcer	HP:0040282	ORPHA:220402
1235	CCR6	HP:0200042	Skin ulcer	HP:0040282	ORPHA:220393
1235	CCR6	HP:0000670	Carious teeth	HP:0040282	ORPHA:220393
1235	CCR6	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:220402
1235	CCR6	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:220393
1235	CCR6	HP:0002829	Arthralgia	HP:0040282	ORPHA:220393
1235	CCR6	HP:0000217	Xerostomia	HP:0040282	ORPHA:220393
1235	CCR6	HP:0030016	Dyspareunia	HP:0040282	ORPHA:220393
1235	CCR6	HP:0030142	Abnormal bowel sounds	HP:0040283	ORPHA:220393
1235	CCR6	HP:0002960	Autoimmunity	HP:0040281	ORPHA:220402
1235	CCR6	HP:0002960	Autoimmunity	HP:0040281	ORPHA:220393
1235	CCR6	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:220393
1244	ABCC2	HP:0001392	Abnormality of the liver	HP:0040281	ORPHA:234
1244	ABCC2	HP:0012086	Abnormal urinary color	HP:0040281	ORPHA:234
1244	ABCC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:237500
1244	ABCC2	HP:0002027	Abdominal pain	HP:0040283	ORPHA:234
1244	ABCC2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:234
1244	ABCC2	HP:0001080	Biliary tract abnormality	HP:0040281	ORPHA:234
1244	ABCC2	HP:0001080	Biliary tract abnormality	-	OMIM:237500
1244	ABCC2	HP:0004295	Abnormal gastric mucosa morphology	HP:0040282	ORPHA:234
1244	ABCC2	HP:0001945	Fever	HP:0040283	ORPHA:234
1244	ABCC2	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:234
1244	ABCC2	HP:0000952	Jaundice	HP:0040281	ORPHA:234
1244	ABCC2	HP:0000952	Jaundice	-	OMIM:237500
1244	ABCC2	HP:0012378	Fatigue	HP:0040283	ORPHA:234
1244	ABCC2	HP:0002908	Conjugated hyperbilirubinemia	HP:0040281	ORPHA:234
1244	ABCC2	HP:0002908	Conjugated hyperbilirubinemia	-	OMIM:237500
1258	CNGB1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
1258	CNGB1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
1258	CNGB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
1258	CNGB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613767
1258	CNGB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
1258	CNGB1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
1258	CNGB1	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
1258	CNGB1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
1258	CNGB1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
1258	CNGB1	HP:0003621	Juvenile onset	8/19	OMIM:180100
1258	CNGB1	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
1258	CNGB1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
1258	CNGB1	HP:0000618	Blindness	HP:0040281	ORPHA:791
1258	CNGB1	HP:0000613	Photophobia	HP:0040281	ORPHA:791
1258	CNGB1	HP:0000608	Macular degeneration	HP:0040283	OMIM:613767
1258	CNGB1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
1258	CNGB1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
1258	CNGB1	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
1258	CNGB1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
1258	CNGB1	HP:0000662	Nyctalopia	1/1	OMIM:613767
1258	CNGB1	HP:0000662	Nyctalopia	26/28	OMIM:180100
1258	CNGB1	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
1258	CNGB1	HP:0011463	Childhood onset	3/19	OMIM:180100
1258	CNGB1	HP:0011462	Young adult onset	8/19	OMIM:180100
1258	CNGB1	HP:0030786	Photopsia	HP:0040283	ORPHA:791
1258	CNGB1	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
1258	CNGB1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
1258	CNGB1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
1258	CNGB1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
1258	CNGB1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
1258	CNGB1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
1258	CNGB1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
1258	CNGB1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:613767
1258	CNGB1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
1258	CNGB1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
1258	CNGB1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
1258	CNGB1	HP:0007994	Peripheral visual field loss	1/1	OMIM:613767
1258	CNGB1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
1258	CNGB1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
1258	CNGB1	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
1258	CNGB1	HP:0000510	Rod-cone dystrophy	1/1	OMIM:613767
1258	CNGB1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
1258	CNGB1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
1258	CNGB1	HP:0000512	Abnormal electroretinogram	1/1	OMIM:613767
1258	CNGB1	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
1258	CNGB1	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
1258	CNGB1	HP:0000575	Scotoma	5/18	OMIM:180100
1258	CNGB1	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
1258	CNGB1	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
1258	CNGB1	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
1258	CNGB1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
1258	CNGB1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
1258	CNGB1	HP:0000545	Myopia	-	OMIM:180100
1259	CNGA1	HP:0001133	Constriction of peripheral visual field	-	OMIM:268000
1259	CNGA1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
1259	CNGA1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
1259	CNGA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
1259	CNGA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:268000
1259	CNGA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613756
1259	CNGA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
1259	CNGA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:268000
1259	CNGA1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
1259	CNGA1	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
1259	CNGA1	HP:0007663	Reduced visual acuity	7/7	OMIM:613756
1259	CNGA1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
1259	CNGA1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
1259	CNGA1	HP:0001419	X-linked recessive inheritance	-	OMIM:268000
1259	CNGA1	HP:0003621	Juvenile onset	8/19	OMIM:180100
1259	CNGA1	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
1259	CNGA1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
1259	CNGA1	HP:0000618	Blindness	HP:0040281	ORPHA:791
1259	CNGA1	HP:0000613	Photophobia	HP:0040281	ORPHA:791
1259	CNGA1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
1259	CNGA1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
1259	CNGA1	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
1259	CNGA1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
1259	CNGA1	HP:0000662	Nyctalopia	-	OMIM:268000
1259	CNGA1	HP:0000662	Nyctalopia	7/7	OMIM:613756
1259	CNGA1	HP:0000662	Nyctalopia	26/28	OMIM:180100
1259	CNGA1	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
1259	CNGA1	HP:0011463	Childhood onset	3/19	OMIM:180100
1259	CNGA1	HP:0011462	Young adult onset	8/19	OMIM:180100
1259	CNGA1	HP:0030786	Photopsia	HP:0040283	ORPHA:791
1259	CNGA1	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
1259	CNGA1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
1259	CNGA1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
1259	CNGA1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
1259	CNGA1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
1259	CNGA1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
1259	CNGA1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
1259	CNGA1	HP:0007737	Bone spicule pigmentation of the retina	7/7	OMIM:613756
1259	CNGA1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
1259	CNGA1	HP:0007843	Attenuation of retinal blood vessels	7/7	OMIM:613756
1259	CNGA1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
1259	CNGA1	HP:0031605	Abnormality of fundus pigmentation	-	OMIM:268000
1259	CNGA1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
1259	CNGA1	HP:0007994	Peripheral visual field loss	7/7	OMIM:613756
1259	CNGA1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
1259	CNGA1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
1259	CNGA1	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
1259	CNGA1	HP:0000510	Rod-cone dystrophy	-	OMIM:613756
1259	CNGA1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
1259	CNGA1	HP:0000510	Rod-cone dystrophy	20/20	OMIM:268000
1259	CNGA1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
1259	CNGA1	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
1259	CNGA1	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
1259	CNGA1	HP:0000575	Scotoma	5/18	OMIM:180100
1259	CNGA1	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
1259	CNGA1	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
1259	CNGA1	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
1259	CNGA1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
1259	CNGA1	HP:0000543	Optic disc pallor	7/7	OMIM:613756
1259	CNGA1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
1259	CNGA1	HP:0000545	Myopia	-	OMIM:180100
1261	CNGA3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
1261	CNGA3	HP:0001103	Abnormal macular morphology	HP:0040283	ORPHA:49382
1261	CNGA3	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
1261	CNGA3	HP:0012047	Hemeralopia	2/2	OMIM:216900
1261	CNGA3	HP:0012043	Pendular nystagmus	HP:0040281	ORPHA:49382
1261	CNGA3	HP:0012043	Pendular nystagmus	4/16	OMIM:216900
1261	CNGA3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
1261	CNGA3	HP:0000007	Autosomal recessive inheritance	-	OMIM:216900
1261	CNGA3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
1261	CNGA3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
1261	CNGA3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
1261	CNGA3	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:49382
1261	CNGA3	HP:0007663	Reduced visual acuity	17/17	OMIM:216900
1261	CNGA3	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
1261	CNGA3	HP:0500041	Myopic astigmatism	2/2	OMIM:216900
1261	CNGA3	HP:0500087	Peripapillary atrophy	1/2	OMIM:216900
1261	CNGA3	HP:0003621	Juvenile onset	8/19	OMIM:180100
1261	CNGA3	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
1261	CNGA3	HP:0000639	Nystagmus	2/2	OMIM:216900
1261	CNGA3	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
1261	CNGA3	HP:0000613	Photophobia	HP:0040281	ORPHA:49382
1261	CNGA3	HP:0000613	Photophobia	2/2	OMIM:216900
1261	CNGA3	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
1261	CNGA3	HP:0000603	Central scotoma	HP:0040282	ORPHA:49382
1261	CNGA3	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
1261	CNGA3	HP:0030465	Undetectable light-adapted electroretinogram	HP:0040281	ORPHA:49382
1261	CNGA3	HP:0030465	Undetectable light-adapted electroretinogram	2/2	OMIM:216900
1261	CNGA3	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
1261	CNGA3	HP:0000662	Nyctalopia	26/28	OMIM:180100
1261	CNGA3	HP:0000662	Nyctalopia	0/2	OMIM:216900
1261	CNGA3	HP:0030620	Inner retinal layer loss on macular OCT	HP:0040281	ORPHA:49382
1261	CNGA3	HP:0030584	Color vision test abnormality	HP:0040281	ORPHA:49382
1261	CNGA3	HP:0011463	Childhood onset	3/19	OMIM:180100
1261	CNGA3	HP:0011463	Childhood onset	2/2	OMIM:216900
1261	CNGA3	HP:0011462	Young adult onset	8/19	OMIM:180100
1261	CNGA3	HP:0011516	Achromatopsia	15/16	OMIM:216900
1261	CNGA3	HP:0030825	Absent foveal reflex	HP:0040282	ORPHA:49382
1261	CNGA3	HP:0030825	Absent foveal reflex	1/16	OMIM:216900
1261	CNGA3	HP:0034362	Dull foveal reflex	6/16	OMIM:216900
1261	CNGA3	HP:0007722	Retinal pigment epithelial atrophy	HP:0040284	ORPHA:49382
1261	CNGA3	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
1261	CNGA3	HP:0025549	Eccentric visual fixation	HP:0040283	ORPHA:49382
1261	CNGA3	HP:0007750	Hypoplasia of the fovea	HP:0040282	ORPHA:49382
1261	CNGA3	HP:0007750	Hypoplasia of the fovea	5/16	OMIM:216900
1261	CNGA3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
1261	CNGA3	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
1261	CNGA3	HP:0007695	Abnormal pupillary light reflex	HP:0040283	ORPHA:49382
1261	CNGA3	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
1261	CNGA3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
1261	CNGA3	HP:0007843	Attenuation of retinal blood vessels	HP:0040283	ORPHA:49382
1261	CNGA3	HP:0007814	Retinal pigment epithelial mottling	HP:0040283	ORPHA:49382
1261	CNGA3	HP:0007803	Monochromacy	HP:0040281	ORPHA:49382
1261	CNGA3	HP:0030329	Retinal thinning	1/2	OMIM:216900
1261	CNGA3	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
1261	CNGA3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
1261	CNGA3	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
1261	CNGA3	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
1261	CNGA3	HP:0000575	Scotoma	5/18	OMIM:180100
1261	CNGA3	HP:0000540	Hypermetropia	HP:0040282	ORPHA:49382
1261	CNGA3	HP:0000539	Abnormality of refraction	HP:0040281	ORPHA:49382
1261	CNGA3	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
1261	CNGA3	HP:0000551	Color vision defect	HP:0040281	ORPHA:49382
1261	CNGA3	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
1261	CNGA3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
1261	CNGA3	HP:0000545	Myopia	-	OMIM:180100
1261	CNGA3	HP:0000545	Myopia	HP:0040282	ORPHA:49382
1267	CNP	HP:0001276	Hypertonia	1/1	OMIM:619071
1267	CNP	HP:0001272	Cerebellar atrophy	1/1	OMIM:619071
1267	CNP	HP:0002510	Spastic tetraplegia	1/1	OMIM:619071
1267	CNP	HP:0001348	Brisk reflexes	1/1	OMIM:619071
1267	CNP	HP:0001332	Dystonia	1/1	OMIM:619071
1267	CNP	HP:0000007	Autosomal recessive inheritance	-	OMIM:619071
1267	CNP	HP:0002650	Scoliosis	1/1	OMIM:619071
1267	CNP	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:619071
1267	CNP	HP:0003487	Babinski sign	1/1	OMIM:619071
1267	CNP	HP:0011968	Feeding difficulties	1/1	OMIM:619071
1267	CNP	HP:0002376	Developmental regression	1/1	OMIM:619071
1267	CNP	HP:0001007	Hirsutism	1/1	OMIM:619071
1267	CNP	HP:0000737	Irritability	1/1	OMIM:619071
1267	CNP	HP:0012706	Elevated brain choline level by MRS	1/1	OMIM:619071
1267	CNP	HP:0012708	Reduced brain N-acetyl aspartate level by MRS	1/1	OMIM:619071
1267	CNP	HP:0011463	Childhood onset	1/1	OMIM:619071
1267	CNP	HP:0000280	Coarse facial features	1/1	OMIM:619071
1267	CNP	HP:0030081	Punctate periventricular T2 hyperintense foci	1/1	OMIM:619071
1267	CNP	HP:0000253	Progressive microcephaly	1/1	OMIM:619071
1267	CNP	HP:0012450	Chronic constipation	1/1	OMIM:619071
1267	CNP	HP:0000473	Torticollis	1/1	OMIM:619071
1267	CNP	HP:0000508	Ptosis	1/1	OMIM:619071
1272	CNTN1	HP:0001166	Arachnodactyly	-	OMIM:612540
1272	CNTN1	HP:0001284	Areflexia	2/16	OMIM:612540
1272	CNTN1	HP:0001252	Hypotonia	16/16	OMIM:612540
1272	CNTN1	HP:0001263	Global developmental delay	2/16	OMIM:612540
1272	CNTN1	HP:0001324	Muscle weakness	16/16	OMIM:612540
1272	CNTN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612540
1272	CNTN1	HP:0001319	Neonatal hypotonia	-	OMIM:612540
1272	CNTN1	HP:0002705	High, narrow palate	-	OMIM:612540
1272	CNTN1	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:612540
1272	CNTN1	HP:0002033	Poor suck	-	OMIM:612540
1272	CNTN1	HP:0009473	Joint contracture of the hand	-	OMIM:612540
1272	CNTN1	HP:0010557	Overlapping fingers	-	OMIM:612540
1272	CNTN1	HP:0003593	Infantile onset	9/16	OMIM:612540
1272	CNTN1	HP:0033333	Jaw contracture	4/16	OMIM:612540
1272	CNTN1	HP:0011968	Feeding difficulties	2/16	OMIM:612540
1272	CNTN1	HP:0003623	Neonatal onset	7/16	OMIM:612540
1272	CNTN1	HP:0002304	Akinesia	-	OMIM:612540
1272	CNTN1	HP:0001989	Fetal akinesia sequence	-	OMIM:612540
1272	CNTN1	HP:0004415	Pulmonary artery stenosis	1/16	OMIM:612540
1272	CNTN1	HP:0030799	Scaphocephaly	-	OMIM:612540
1272	CNTN1	HP:0040081	Abnormal circulating creatine kinase concentration	0/7	OMIM:612540
1272	CNTN1	HP:0000268	Dolichocephaly	-	OMIM:612540
1272	CNTN1	HP:0000218	High palate	-	OMIM:612540
1272	CNTN1	HP:0001561	Polyhydramnios	-	OMIM:612540
1272	CNTN1	HP:0001558	Decreased fetal movement	4/4	OMIM:612540
1272	CNTN1	HP:0001522	Death in infancy	-	OMIM:612540
1272	CNTN1	HP:0001518	Small for gestational age	-	OMIM:612540
1272	CNTN1	HP:0012385	Camptodactyly	-	OMIM:612540
1272	CNTN1	HP:0000316	Hypertelorism	-	OMIM:612540
1272	CNTN1	HP:0001622	Premature birth	4/4	OMIM:612540
1272	CNTN1	HP:0000300	Oval face	-	OMIM:612540
1277	COL1A1	HP:0003771	Pulp calcification	HP:0040282	ORPHA:287
1277	COL1A1	HP:0100963	Hyperesthesia	HP:0040282	ORPHA:1310
1277	COL1A1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1277	COL1A1	HP:0001293	Cranial nerve compression	-	OMIM:131300
1277	COL1A1	HP:0001290	Generalized hypotonia	-	OMIM:130060
1277	COL1A1	HP:0001290	Generalized hypotonia	2/2	OMIM:619115
1277	COL1A1	HP:0001278	Orthostatic hypotension	HP:0040284	ORPHA:287
1277	COL1A1	HP:0001270	Motor delay	HP:0040283	ORPHA:287
1277	COL1A1	HP:0001256	Intellectual disability, mild	-	OMIM:259770
1277	COL1A1	HP:0001252	Hypotonia	-	OMIM:130060
1277	COL1A1	HP:0001252	Hypotonia	HP:0040281	ORPHA:1899
1277	COL1A1	HP:0001252	Hypotonia	HP:0040282	ORPHA:287
1277	COL1A1	HP:0001252	Hypotonia	-	OMIM:259770
1277	COL1A1	HP:0001252	Hypotonia	2/7	OMIM:615777
1277	COL1A1	HP:0001249	Intellectual disability	5/7	OMIM:615777
1277	COL1A1	HP:0001263	Global developmental delay	1/1	OMIM:612394
1277	COL1A1	HP:0001263	Global developmental delay	-	OMIM:615777
1277	COL1A1	HP:0002515	Waddling gait	54/102	OMIM:131300
1277	COL1A1	HP:0003834	Shoulder dislocation	HP:0040283	ORPHA:287
1277	COL1A1	HP:0006094	Finger joint hypermobility	1/1	OMIM:166200
1277	COL1A1	HP:0001373	Joint dislocation	HP:0040281	ORPHA:1899
1277	COL1A1	HP:0001386	Joint swelling	HP:0040283	ORPHA:287
1277	COL1A1	HP:0001385	Hip dysplasia	1/1	OMIM:166200
1277	COL1A1	HP:0001385	Hip dysplasia	HP:0040281	ORPHA:1899
1277	COL1A1	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1899
1277	COL1A1	HP:0001382	Joint hypermobility	-	OMIM:259770
1277	COL1A1	HP:0001382	Joint hypermobility	1/1	OMIM:130060
1277	COL1A1	HP:0001382	Joint hypermobility	17/17	OMIM:619115
1277	COL1A1	HP:0001382	Joint hypermobility	-	OMIM:166200
1277	COL1A1	HP:0001382	Joint hypermobility	-	OMIM:615777
1277	COL1A1	HP:0001382	Joint hypermobility	-	OMIM:114000
1277	COL1A1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:1899
1277	COL1A1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:287
1277	COL1A1	HP:0000023	Inguinal hernia	1/2	OMIM:619115
1277	COL1A1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:1899
1277	COL1A1	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
1277	COL1A1	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:287
1277	COL1A1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1277	COL1A1	HP:0002691	Platybasia	-	OMIM:259420
1277	COL1A1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1277	COL1A1	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
1277	COL1A1	HP:0008873	Disproportionate short-limb short stature	-	OMIM:259420
1277	COL1A1	HP:0008873	Disproportionate short-limb short stature	-	OMIM:166210
1277	COL1A1	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:1310
1277	COL1A1	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
1277	COL1A1	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:287
1277	COL1A1	HP:0008780	Congenital bilateral hip dislocation	1/1	OMIM:130060
1277	COL1A1	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
1277	COL1A1	HP:0002659	Increased susceptibility to fractures	1/1	OMIM:166200
1277	COL1A1	HP:0002659	Increased susceptibility to fractures	-	OMIM:130060
1277	COL1A1	HP:0002659	Increased susceptibility to fractures	-	OMIM:166220
1277	COL1A1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1277	COL1A1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:287
1277	COL1A1	HP:0001324	Muscle weakness	40/96	OMIM:131300
1277	COL1A1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1277	COL1A1	HP:0002673	Coxa valga	HP:0040281	ORPHA:1899
1277	COL1A1	HP:6000809	Thickened tibial cortex	-	OMIM:114000
1277	COL1A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
1277	COL1A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1277	COL1A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
1277	COL1A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:259420
1277	COL1A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:166710
1277	COL1A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:130060
1277	COL1A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:114000
1277	COL1A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619115
1277	COL1A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1277	COL1A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:166210
1277	COL1A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:166220
1277	COL1A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:166200
1277	COL1A1	HP:0002650	Scoliosis	1/5	OMIM:259770
1277	COL1A1	HP:0002650	Scoliosis	-	OMIM:130060
1277	COL1A1	HP:0002650	Scoliosis	-	OMIM:166220
1277	COL1A1	HP:0002650	Scoliosis	1/1	OMIM:612394
1277	COL1A1	HP:0002650	Scoliosis	HP:0040282	ORPHA:1899
1277	COL1A1	HP:0002650	Scoliosis	HP:0040283	ORPHA:287
1277	COL1A1	HP:0002650	Scoliosis	-	OMIM:259420
1277	COL1A1	HP:0002650	Scoliosis	8/9	OMIM:619115
1277	COL1A1	HP:0002650	Scoliosis	12/14	OMIM:131300
1277	COL1A1	HP:0002650	Scoliosis	HP:0040283	ORPHA:1310
1277	COL1A1	HP:0002645	Wormian bones	-	OMIM:259420
1277	COL1A1	HP:0002645	Wormian bones	-	OMIM:166200
1277	COL1A1	HP:0002645	Wormian bones	-	OMIM:166210
1277	COL1A1	HP:0002645	Wormian bones	-	OMIM:166220
1277	COL1A1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1277	COL1A1	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:166210
1277	COL1A1	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:287
1277	COL1A1	HP:6000811	Thickened cortex of the radius	-	OMIM:114000
1277	COL1A1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1277	COL1A1	HP:6000812	Thickened cortex of the ulna	-	OMIM:114000
1277	COL1A1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1277	COL1A1	HP:6000871	Popcorn calcification	2/20	OMIM:166220
1277	COL1A1	HP:6000871	Popcorn calcification	13/25	OMIM:259420
1277	COL1A1	HP:0008921	Neonatal short-limb short stature	-	OMIM:259420
1277	COL1A1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1277	COL1A1	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
1277	COL1A1	HP:0000175	Cleft palate	2/7	OMIM:615777
1277	COL1A1	HP:0001476	Delayed closure of the anterior fontanelle	1/1	OMIM:130060
1277	COL1A1	HP:0000139	Uterine prolapse	HP:0040283	ORPHA:287
1277	COL1A1	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:31112
1277	COL1A1	HP:0005005	Femoral bowing present at birth, straightening with time	-	OMIM:166220
1277	COL1A1	HP:0006243	Phalangeal dislocation	HP:0040283	ORPHA:287
1277	COL1A1	HP:0002761	Generalized joint hypermobility	HP:0040281	ORPHA:287
1277	COL1A1	HP:0002757	Recurrent fractures	-	OMIM:259420
1277	COL1A1	HP:0002757	Recurrent fractures	4/5	OMIM:259770
1277	COL1A1	HP:0002757	Recurrent fractures	-	OMIM:166210
1277	COL1A1	HP:0002757	Recurrent fractures	-	OMIM:166220
1277	COL1A1	HP:0002757	Recurrent fractures	12/12	OMIM:619115
1277	COL1A1	HP:0002757	Recurrent fractures	1/1	OMIM:166200
1277	COL1A1	HP:0002758	Osteoarthritis	HP:0040283	ORPHA:287
1277	COL1A1	HP:0002756	Pathologic fracture	-	OMIM:259770
1277	COL1A1	HP:0002756	Pathologic fracture	1/1	OMIM:612394
1277	COL1A1	HP:0002751	Kyphoscoliosis	-	OMIM:259770
1277	COL1A1	HP:6000936	Thickened cortex of the clavicle	-	OMIM:114000
1277	COL1A1	HP:6000937	Thickened cortex of the mandible	-	OMIM:114000
1277	COL1A1	HP:0002716	Lymphadenopathy	HP:0040284	ORPHA:31112
1277	COL1A1	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
1277	COL1A1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:287
1277	COL1A1	HP:0002018	Nausea	HP:0040282	ORPHA:287
1277	COL1A1	HP:0002036	Hiatus hernia	HP:0040283	ORPHA:287
1277	COL1A1	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:287
1277	COL1A1	HP:0002013	Vomiting	HP:0040282	ORPHA:287
1277	COL1A1	HP:0002007	Frontal bossing	-	OMIM:259420
1277	COL1A1	HP:0003321	Biconcave flattened vertebrae	-	OMIM:166220
1277	COL1A1	HP:0003321	Biconcave flattened vertebrae	-	OMIM:166200
1277	COL1A1	HP:0011800	Midface retrusion	-	OMIM:130060
1277	COL1A1	HP:0100541	Femoral hernia	HP:0040283	ORPHA:1899
1277	COL1A1	HP:0002092	Pulmonary arterial hypertension	-	OMIM:259420
1277	COL1A1	HP:0002093	Respiratory insufficiency	-	OMIM:166210
1277	COL1A1	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:1310
1277	COL1A1	HP:0003394	Muscle spasm	HP:0040282	ORPHA:287
1277	COL1A1	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
1277	COL1A1	HP:0003388	Easy fatigability	36/76	OMIM:131300
1277	COL1A1	HP:0010444	Pulmonic regurgitation	-	OMIM:166210
1277	COL1A1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1277	COL1A1	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:130060
1277	COL1A1	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
1277	COL1A1	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
1277	COL1A1	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
1277	COL1A1	HP:0002194	Delayed gross motor development	-	OMIM:130060
1277	COL1A1	HP:0002164	Nail dysplasia	1/1	OMIM:612394
1277	COL1A1	HP:0010557	Overlapping fingers	1/2	OMIM:612394
1277	COL1A1	HP:0010547	Muscle flaccidity	HP:0040281	ORPHA:1899
1277	COL1A1	HP:0010529	Echolalia	HP:0040281	ORPHA:1899
1277	COL1A1	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:130060
1277	COL1A1	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
1277	COL1A1	HP:0003593	Infantile onset	1/5	OMIM:259770
1277	COL1A1	HP:0003593	Infantile onset	1/1	OMIM:166200
1277	COL1A1	HP:0003577	Congenital onset	4/5	OMIM:259770
1277	COL1A1	HP:0003577	Congenital onset	1/1	OMIM:130060
1277	COL1A1	HP:0004872	Incisional hernia	HP:0040283	ORPHA:287
1277	COL1A1	HP:0002208	Coarse hair	1/1	OMIM:612394
1277	COL1A1	HP:0010702	Increased circulating immunoglobulin concentration	HP:0040283	ORPHA:1310
1277	COL1A1	HP:0010648	Dermal translucency	2/2	OMIM:619115
1277	COL1A1	HP:0003510	Severe short stature	7/7	OMIM:615777
1277	COL1A1	HP:0003510	Severe short stature	HP:0040281	ORPHA:1899
1277	COL1A1	HP:0003502	Mild short stature	-	OMIM:130060
1277	COL1A1	HP:0001058	Poor wound healing	2/2	OMIM:619115
1277	COL1A1	HP:0001058	Poor wound healing	HP:0040282	ORPHA:287
1277	COL1A1	HP:0001058	Poor wound healing	-	OMIM:130060
1277	COL1A1	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
1277	COL1A1	HP:0002381	Aphasia	HP:0040281	ORPHA:1899
1277	COL1A1	HP:0025019	Arterial rupture	HP:0040283	ORPHA:287
1277	COL1A1	HP:0025019	Arterial rupture	1/2	OMIM:619115
1277	COL1A1	HP:0025019	Arterial rupture	1/1	OMIM:612394
1277	COL1A1	HP:0001063	Acrocyanosis	HP:0040283	ORPHA:287
1277	COL1A1	HP:0025014	Subcutaneous spheroids	HP:0040283	ORPHA:287
1277	COL1A1	HP:0001065	Striae distensae	HP:0040281	ORPHA:287
1277	COL1A1	HP:0001030	Fragile skin	HP:0040281	ORPHA:287
1277	COL1A1	HP:0001027	Soft, doughy skin	HP:0040281	ORPHA:287
1277	COL1A1	HP:0001027	Soft, doughy skin	1/1	OMIM:130060
1277	COL1A1	HP:0002315	Headache	-	OMIM:131300
1277	COL1A1	HP:0002315	Headache	HP:0040284	ORPHA:287
1277	COL1A1	HP:0004976	Knee dislocation	6/7	OMIM:615777
1277	COL1A1	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
1277	COL1A1	HP:0001001	Abnormality of subcutaneous fat tissue	HP:0040281	ORPHA:1899
1277	COL1A1	HP:0100658	Cellulitis	HP:0040281	ORPHA:1310
1277	COL1A1	HP:0009826	Limb undergrowth	2/2	OMIM:166210
1277	COL1A1	HP:0001073	Cigarette-paper scars	HP:0040281	ORPHA:287
1277	COL1A1	HP:0001075	Atrophic scars	HP:0040281	ORPHA:287
1277	COL1A1	HP:0001075	Atrophic scars	0/1	OMIM:130060
1277	COL1A1	HP:0001072	Thickened skin	HP:0040281	ORPHA:31112
1277	COL1A1	HP:0009803	Short phalanx of finger	-	OMIM:615777
1277	COL1A1	HP:0200042	Skin ulcer	HP:0040282	ORPHA:31112
1277	COL1A1	HP:0001089	Iris atrophy	-	OMIM:259770
1277	COL1A1	HP:0010783	Erythema	HP:0040281	ORPHA:31112
1277	COL1A1	HP:0032153	Joint subluxation	-	OMIM:130060
1277	COL1A1	HP:0010750	Dermatochalasis	HP:0040283	ORPHA:287
1277	COL1A1	HP:0010754	Abnormality of the temporomandibular joint	HP:0040283	ORPHA:287
1277	COL1A1	HP:0100699	Scarring	HP:0040281	ORPHA:1899
1277	COL1A1	HP:0010749	Blepharochalasis	HP:0040283	ORPHA:287
1277	COL1A1	HP:0009763	Limb pain	HP:0040283	ORPHA:287
1277	COL1A1	HP:0009763	Limb pain	63/92	OMIM:131300
1277	COL1A1	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
1277	COL1A1	HP:0002300	Mutism	HP:0040281	ORPHA:1899
1277	COL1A1	HP:0003621	Juvenile onset	-	OMIM:131300
1277	COL1A1	HP:0004947	Arteriovenous fistula	HP:0040283	ORPHA:287
1277	COL1A1	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:287
1277	COL1A1	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
1277	COL1A1	HP:0004942	Aortic aneurysm	-	OMIM:166200
1277	COL1A1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1277	COL1A1	HP:0031869	Recurrent joint dislocation	2/2	OMIM:619115
1277	COL1A1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1277	COL1A1	HP:6001056	Out-toeing	-	OMIM:131300
1277	COL1A1	HP:0000651	Diplopia	-	OMIM:131300
1277	COL1A1	HP:6001053	Vertebra plana	-	OMIM:166200
1277	COL1A1	HP:0000618	Blindness	5/5	OMIM:259770
1277	COL1A1	HP:0001945	Fever	HP:0040282	ORPHA:1310
1277	COL1A1	HP:0001945	Fever	-	OMIM:114000
1277	COL1A1	HP:0001956	Truncal obesity	2/7	OMIM:615777
1277	COL1A1	HP:0001903	Anemia	HP:0040283	OMIM:131300
1277	COL1A1	HP:0010049	Short metacarpal	-	OMIM:615777
1277	COL1A1	HP:0000678	Dental crowding	-	OMIM:615777
1277	COL1A1	HP:0000670	Carious teeth	-	OMIM:131300
1277	COL1A1	HP:0011304	Broad thumb	2/7	OMIM:615777
1277	COL1A1	HP:0000668	Hypodontia	-	OMIM:615777
1277	COL1A1	HP:0000667	Phthisis bulbi	-	OMIM:259770
1277	COL1A1	HP:0000664	Synophrys	-	OMIM:615777
1277	COL1A1	HP:0004322	Short stature	11/12	OMIM:619115
1277	COL1A1	HP:0004322	Short stature	-	OMIM:259770
1277	COL1A1	HP:0004322	Short stature	-	OMIM:166220
1277	COL1A1	HP:0005623	Absent ossification of calvaria	1/1	OMIM:166210
1277	COL1A1	HP:0005622	Broad long bones	-	OMIM:166210
1277	COL1A1	HP:0003088	Premature osteoarthritis	-	OMIM:130060
1277	COL1A1	HP:0003083	Dislocated radial head	HP:0040283	ORPHA:287
1277	COL1A1	HP:0004396	Poor appetite	-	OMIM:131300
1277	COL1A1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1277	COL1A1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1277	COL1A1	HP:0003016	Metaphyseal widening	-	OMIM:259770
1277	COL1A1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1277	COL1A1	HP:0003010	Prolonged bleeding time	HP:0040283	ORPHA:287
1277	COL1A1	HP:0003026	Short long bone	7/7	OMIM:615777
1277	COL1A1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1277	COL1A1	HP:0003023	Bowing of limbs due to multiple fractures	-	OMIM:166220
1277	COL1A1	HP:0003023	Bowing of limbs due to multiple fractures	-	OMIM:259420
1277	COL1A1	HP:0004349	Reduced bone mineral density	-	OMIM:166220
1277	COL1A1	HP:0004349	Reduced bone mineral density	7/7	OMIM:619115
1277	COL1A1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1277	COL1A1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1277	COL1A1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1277	COL1A1	HP:0000750	Delayed speech and language development	-	OMIM:615777
1277	COL1A1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1310
1277	COL1A1	HP:0000703	Dentinogenesis imperfecta	-	OMIM:259420
1277	COL1A1	HP:0000703	Dentinogenesis imperfecta	-	OMIM:166220
1277	COL1A1	HP:0000703	Dentinogenesis imperfecta	HP:0040283	OMIM:166200
1277	COL1A1	HP:0011463	Childhood onset	2/2	OMIM:619115
1277	COL1A1	HP:0011461	Fetal onset	7/7	OMIM:615777
1277	COL1A1	HP:0011461	Fetal onset	2/2	OMIM:612394
1277	COL1A1	HP:0000774	Narrow chest	2/7	OMIM:615777
1277	COL1A1	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
1277	COL1A1	HP:0003100	Slender long bone	-	OMIM:259420
1277	COL1A1	HP:0005758	Basilar impression	-	OMIM:259420
1277	COL1A1	HP:0005731	Cortical irregularity	HP:0040281	ORPHA:1310
1277	COL1A1	HP:0005731	Cortical irregularity	-	OMIM:114000
1277	COL1A1	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040281	ORPHA:1899
1277	COL1A1	HP:0003196	Short nose	1/1	OMIM:612394
1277	COL1A1	HP:0000926	Platyspondyly	-	OMIM:259770
1277	COL1A1	HP:0000926	Platyspondyly	1/7	OMIM:615777
1277	COL1A1	HP:0000926	Platyspondyly	-	OMIM:166210
1277	COL1A1	HP:0000926	Platyspondyly	1/1	OMIM:612394
1277	COL1A1	HP:0003179	Protrusio acetabuli	-	OMIM:259420
1277	COL1A1	HP:0003180	Flat acetabular roof	-	OMIM:615777
1277	COL1A1	HP:0004482	Relative macrocephaly	-	OMIM:615777
1277	COL1A1	HP:0004490	Calvarial hyperostosis	HP:0040283	ORPHA:1310
1277	COL1A1	HP:0004490	Calvarial hyperostosis	-	OMIM:114000
1277	COL1A1	HP:0005791	Cortical thickening of long bone diaphyses	HP:0040283	ORPHA:1310
1277	COL1A1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1277	COL1A1	HP:0000883	Thin ribs	-	OMIM:259420
1277	COL1A1	HP:0000883	Thin ribs	1/1	OMIM:166210
1277	COL1A1	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
1277	COL1A1	HP:0000823	Delayed puberty	-	OMIM:131300
1277	COL1A1	HP:0000894	Short clavicles	-	OMIM:615777
1277	COL1A1	HP:0005897	Severe generalized osteoporosis	-	OMIM:259420
1277	COL1A1	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
1277	COL1A1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1277	COL1A1	HP:0005855	Multiple prenatal fractures	2/2	OMIM:166210
1277	COL1A1	HP:0005855	Multiple prenatal fractures	-	OMIM:259420
1277	COL1A1	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
1277	COL1A1	HP:0004586	Biconcave vertebral bodies	-	OMIM:259420
1277	COL1A1	HP:0000993	Molluscoid pseudotumors	HP:0040283	ORPHA:287
1277	COL1A1	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:287
1277	COL1A1	HP:0000978	Bruising susceptibility	1/1	OMIM:130060
1277	COL1A1	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
1277	COL1A1	HP:0000978	Bruising susceptibility	2/2	OMIM:619115
1277	COL1A1	HP:0000978	Bruising susceptibility	-	OMIM:166200
1277	COL1A1	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:287
1277	COL1A1	HP:0000974	Hyperextensible skin	1/1	OMIM:130060
1277	COL1A1	HP:0000974	Hyperextensible skin	2/2	OMIM:619115
1277	COL1A1	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:1899
1277	COL1A1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1277	COL1A1	HP:0000963	Thin skin	-	OMIM:166210
1277	COL1A1	HP:0000963	Thin skin	-	OMIM:166200
1277	COL1A1	HP:0000963	Thin skin	HP:0040281	ORPHA:1899
1277	COL1A1	HP:0000939	Osteoporosis	-	OMIM:166710
1277	COL1A1	HP:0000939	Osteoporosis	4/5	OMIM:259770
1277	COL1A1	HP:0000938	Osteopenia	HP:0040282	ORPHA:287
1277	COL1A1	HP:0000938	Osteopenia	1/5	OMIM:259770
1277	COL1A1	HP:0000938	Osteopenia	-	OMIM:130060
1277	COL1A1	HP:0000938	Osteopenia	1/1	OMIM:612394
1277	COL1A1	HP:0000938	Osteopenia	-	OMIM:166200
1277	COL1A1	HP:0100244	Fibrosarcoma	HP:0040281	ORPHA:31112
1277	COL1A1	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:31112
1277	COL1A1	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
1277	COL1A1	HP:0000286	Epicanthus	HP:0040282	ORPHA:1899
1277	COL1A1	HP:0000286	Epicanthus	HP:0040283	ORPHA:287
1277	COL1A1	HP:0000286	Epicanthus	1/7	OMIM:615777
1277	COL1A1	HP:0000280	Coarse facial features	2/7	OMIM:615777
1277	COL1A1	HP:0000278	Retrognathia	HP:0040282	ORPHA:1899
1277	COL1A1	HP:0001591	Bell-shaped thorax	1/1	OMIM:166210
1277	COL1A1	HP:0000260	Wide anterior fontanel	-	OMIM:259420
1277	COL1A1	HP:0000272	Malar flattening	-	OMIM:130060
1277	COL1A1	HP:0000272	Malar flattening	1/1	OMIM:612394
1277	COL1A1	HP:0006465	Periosteal thickening of long tubular bones	HP:0040282	ORPHA:1310
1277	COL1A1	HP:0006465	Periosteal thickening of long tubular bones	3/3	OMIM:114000
1277	COL1A1	HP:0007773	Vitreoretinopathy	-	OMIM:259770
1277	COL1A1	HP:0002812	Coxa vara	HP:0040281	ORPHA:1899
1277	COL1A1	HP:0002829	Arthralgia	HP:0040283	ORPHA:287
1277	COL1A1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:287
1277	COL1A1	HP:0002827	Hip dislocation	3/7	OMIM:615777
1277	COL1A1	HP:0002827	Hip dislocation	HP:0040281	ORPHA:1899
1277	COL1A1	HP:0002808	Kyphosis	-	OMIM:259420
1277	COL1A1	HP:0002808	Kyphosis	1/5	OMIM:259770
1277	COL1A1	HP:0002808	Kyphosis	-	OMIM:130060
1277	COL1A1	HP:0002808	Kyphosis	-	OMIM:166220
1277	COL1A1	HP:0006367	Crumpled long bones	1/1	OMIM:166210
1277	COL1A1	HP:0000239	Large fontanelles	-	OMIM:166210
1277	COL1A1	HP:0000252	Microcephaly	-	OMIM:259770
1277	COL1A1	HP:0000252	Microcephaly	-	OMIM:615777
1277	COL1A1	HP:0001552	Barrel-shaped chest	-	OMIM:259770
1277	COL1A1	HP:0030009	Cervical insufficiency	HP:0040283	ORPHA:287
1277	COL1A1	HP:0025509	Piezogenic pedal papules	HP:0040283	ORPHA:287
1277	COL1A1	HP:0002857	Genu valgum	-	OMIM:131300
1277	COL1A1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:287
1277	COL1A1	HP:0001533	Slender build	-	OMIM:131300
1277	COL1A1	HP:0031364	Ecchymosis	HP:0040283	ORPHA:287
1277	COL1A1	HP:0001507	Growth abnormality	-	OMIM:166200
1277	COL1A1	HP:0001518	Small for gestational age	-	OMIM:166210
1277	COL1A1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1277	COL1A1	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
1277	COL1A1	HP:0007807	Optic nerve compression	-	OMIM:131300
1277	COL1A1	HP:0012378	Fatigue	HP:0040282	ORPHA:287
1277	COL1A1	HP:0012368	Flat face	7/7	OMIM:615777
1277	COL1A1	HP:0012368	Flat face	1/1	OMIM:612394
1277	COL1A1	HP:0005257	Thoracic hypoplasia	1/1	OMIM:166210
1277	COL1A1	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
1277	COL1A1	HP:0007875	Congenital blindness	4/5	OMIM:259770
1277	COL1A1	HP:0007862	Retinal calcification	1/5	OMIM:259770
1277	COL1A1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1277	COL1A1	HP:0005191	Congenital knee dislocation	1/1	OMIM:130060
1277	COL1A1	HP:0000362	Otosclerosis	-	OMIM:166220
1277	COL1A1	HP:0000362	Otosclerosis	-	OMIM:166200
1277	COL1A1	HP:0000365	Hearing impairment	-	OMIM:166220
1277	COL1A1	HP:0000365	Hearing impairment	-	OMIM:166200
1277	COL1A1	HP:0000365	Hearing impairment	-	OMIM:259420
1277	COL1A1	HP:0000365	Hearing impairment	10/67	OMIM:131300
1277	COL1A1	HP:0000369	Low-set ears	2/2	OMIM:612394
1277	COL1A1	HP:0000343	Long philtrum	1/7	OMIM:615777
1277	COL1A1	HP:0011001	Increased bone mineral density	-	OMIM:131300
1277	COL1A1	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:287
1277	COL1A1	HP:0000347	Micrognathia	HP:0040282	ORPHA:1899
1277	COL1A1	HP:0000347	Micrognathia	-	OMIM:259420
1277	COL1A1	HP:0002982	Tibial bowing	-	OMIM:259420
1277	COL1A1	HP:0002982	Tibial bowing	1/5	OMIM:259770
1277	COL1A1	HP:0002982	Tibial bowing	-	OMIM:114000
1277	COL1A1	HP:0002982	Tibial bowing	-	OMIM:166210
1277	COL1A1	HP:0002980	Femoral bowing	-	OMIM:166200
1277	COL1A1	HP:0002979	Bowing of the legs	-	OMIM:114000
1277	COL1A1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:1899
1277	COL1A1	HP:0000311	Round face	2/7	OMIM:615777
1277	COL1A1	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
1277	COL1A1	HP:0001653	Mitral regurgitation	HP:0040284	ORPHA:287
1277	COL1A1	HP:0000325	Triangular face	-	OMIM:259420
1277	COL1A1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:1310
1277	COL1A1	HP:0031485	Subperiosteal bone formation	3/3	OMIM:114000
1277	COL1A1	HP:0001629	Ventricular septal defect	-	OMIM:259770
1277	COL1A1	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
1277	COL1A1	HP:0001623	Breech presentation	-	OMIM:130060
1277	COL1A1	HP:0001622	Premature birth	HP:0040283	ORPHA:287
1277	COL1A1	HP:0001622	Premature birth	-	OMIM:166210
1277	COL1A1	HP:0002970	Genu varum	-	OMIM:615777
1277	COL1A1	HP:0001635	Congestive heart failure	-	OMIM:166210
1277	COL1A1	HP:0000307	Pointed chin	1/2	OMIM:612394
1277	COL1A1	HP:0001631	Atrial septal defect	1/2	OMIM:619115
1277	COL1A1	HP:0000303	Mandibular prognathia	-	OMIM:131300
1277	COL1A1	HP:0001634	Mitral valve prolapse	HP:0040284	ORPHA:287
1277	COL1A1	HP:0001634	Mitral valve prolapse	-	OMIM:166200
1277	COL1A1	HP:0031653	Abnormal heart valve physiology	HP:0040283	ORPHA:287
1277	COL1A1	HP:0006640	Multiple rib fractures	1/1	OMIM:166210
1277	COL1A1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
1277	COL1A1	HP:0001704	Tricuspid valve prolapse	HP:0040284	ORPHA:287
1277	COL1A1	HP:0005294	Arterial dissection	HP:0040283	ORPHA:287
1277	COL1A1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1277	COL1A1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1899
1277	COL1A1	HP:0000481	Abnormal cornea morphology	HP:0040283	ORPHA:287
1277	COL1A1	HP:0000463	Anteverted nares	1/1	OMIM:612394
1277	COL1A1	HP:0001790	Nonimmune hydrops fetalis	-	OMIM:166210
1277	COL1A1	HP:0012450	Chronic constipation	HP:0040282	ORPHA:287
1277	COL1A1	HP:0001788	Premature rupture of membranes	HP:0040283	ORPHA:287
1277	COL1A1	HP:0000470	Short neck	1/7	OMIM:615777
1277	COL1A1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1277	COL1A1	HP:0001763	Pes planus	HP:0040283	ORPHA:287
1277	COL1A1	HP:0001763	Pes planus	1/7	OMIM:615777
1277	COL1A1	HP:0001763	Pes planus	1/1	OMIM:130060
1277	COL1A1	HP:0000444	Convex nasal ridge	-	OMIM:166210
1277	COL1A1	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
1277	COL1A1	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:287
1277	COL1A1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:287
1277	COL1A1	HP:0005474	Decreased calvarial ossification	-	OMIM:259420
1277	COL1A1	HP:0000518	Cataract	1/5	OMIM:259770
1277	COL1A1	HP:0000518	Cataract	1/1	OMIM:612394
1277	COL1A1	HP:0001840	Metatarsus adductus	-	OMIM:615777
1277	COL1A1	HP:0000520	Proptosis	2/4	OMIM:131300
1277	COL1A1	HP:0000520	Proptosis	7/7	OMIM:615777
1277	COL1A1	HP:0000520	Proptosis	HP:0040283	ORPHA:1310
1277	COL1A1	HP:0001822	Hallux valgus	1/1	OMIM:130060
1277	COL1A1	HP:0000592	Blue sclerae	-	OMIM:259420
1277	COL1A1	HP:0000592	Blue sclerae	2/7	OMIM:615777
1277	COL1A1	HP:0000592	Blue sclerae	-	OMIM:166210
1277	COL1A1	HP:0000592	Blue sclerae	-	OMIM:166220
1277	COL1A1	HP:0000592	Blue sclerae	12/12	OMIM:619115
1277	COL1A1	HP:0000592	Blue sclerae	1/1	OMIM:166200
1277	COL1A1	HP:0000586	Shallow orbits	1/1	OMIM:612394
1277	COL1A1	HP:0000568	Microphthalmia	1/5	OMIM:259770
1277	COL1A1	HP:0012531	Pain	HP:0040283	ORPHA:31112
1277	COL1A1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1277	COL1A1	HP:0012514	Lower limb pain	4/4	OMIM:131300
1277	COL1A1	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
1277	COL1A1	HP:0000545	Myopia	1/1	OMIM:612394
1278	COL1A2	HP:0001187	Hyperextensibility of the finger joints	-	OMIM:617821
1278	COL1A2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1278	COL1A2	HP:0001293	Cranial nerve compression	-	OMIM:131300
1278	COL1A2	HP:0001290	Generalized hypotonia	3/5	OMIM:619120
1278	COL1A2	HP:0001290	Generalized hypotonia	-	OMIM:617821
1278	COL1A2	HP:0100807	Long fingers	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0001256	Intellectual disability, mild	-	OMIM:259770
1278	COL1A2	HP:0001250	Seizure	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0001252	Hypotonia	HP:0040281	ORPHA:1899
1278	COL1A2	HP:0001252	Hypotonia	-	OMIM:259770
1278	COL1A2	HP:0001252	Hypotonia	2/7	OMIM:615777
1278	COL1A2	HP:0001249	Intellectual disability	5/7	OMIM:615777
1278	COL1A2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0001263	Global developmental delay	1/1	OMIM:612394
1278	COL1A2	HP:0001263	Global developmental delay	-	OMIM:615777
1278	COL1A2	HP:0006109	Absent phalangeal crease	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0002515	Waddling gait	54/102	OMIM:131300
1278	COL1A2	HP:0001373	Joint dislocation	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0001373	Joint dislocation	2/5	OMIM:619120
1278	COL1A2	HP:0001373	Joint dislocation	HP:0040281	ORPHA:1899
1278	COL1A2	HP:0001385	Hip dysplasia	HP:0040281	ORPHA:1899
1278	COL1A2	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1899
1278	COL1A2	HP:0001382	Joint hypermobility	-	OMIM:259770
1278	COL1A2	HP:0001382	Joint hypermobility	-	OMIM:225320
1278	COL1A2	HP:0001382	Joint hypermobility	5/5	OMIM:619120
1278	COL1A2	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:230851
1278	COL1A2	HP:0001382	Joint hypermobility	1/1	OMIM:617821
1278	COL1A2	HP:0001382	Joint hypermobility	-	OMIM:615777
1278	COL1A2	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:1899
1278	COL1A2	HP:0000023	Inguinal hernia	-	OMIM:225320
1278	COL1A2	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:1899
1278	COL1A2	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
1278	COL1A2	HP:0000015	Bladder diverticulum	HP:0040284	OMIM:617821
1278	COL1A2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1278	COL1A2	HP:0002691	Platybasia	-	OMIM:259420
1278	COL1A2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1278	COL1A2	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
1278	COL1A2	HP:0008873	Disproportionate short-limb short stature	-	OMIM:259420
1278	COL1A2	HP:0008873	Disproportionate short-limb short stature	-	OMIM:166210
1278	COL1A2	HP:0006201	Hypermobility of distal interphalangeal joints	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
1278	COL1A2	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
1278	COL1A2	HP:0002659	Increased susceptibility to fractures	-	OMIM:166220
1278	COL1A2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1278	COL1A2	HP:0001324	Muscle weakness	40/96	OMIM:131300
1278	COL1A2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1278	COL1A2	HP:0002673	Coxa valga	HP:0040281	ORPHA:1899
1278	COL1A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:225320
1278	COL1A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
1278	COL1A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1278	COL1A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
1278	COL1A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617821
1278	COL1A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:259420
1278	COL1A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:166710
1278	COL1A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619120
1278	COL1A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1278	COL1A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:166210
1278	COL1A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:166220
1278	COL1A2	HP:0002650	Scoliosis	1/5	OMIM:259770
1278	COL1A2	HP:0002650	Scoliosis	-	OMIM:166220
1278	COL1A2	HP:0002650	Scoliosis	-	OMIM:617821
1278	COL1A2	HP:0002650	Scoliosis	1/1	OMIM:612394
1278	COL1A2	HP:0002650	Scoliosis	HP:0040282	ORPHA:1899
1278	COL1A2	HP:0002650	Scoliosis	-	OMIM:259420
1278	COL1A2	HP:0002650	Scoliosis	12/14	OMIM:131300
1278	COL1A2	HP:0002645	Wormian bones	-	OMIM:259420
1278	COL1A2	HP:0002645	Wormian bones	-	OMIM:617821
1278	COL1A2	HP:0002645	Wormian bones	-	OMIM:166210
1278	COL1A2	HP:0002645	Wormian bones	-	OMIM:166220
1278	COL1A2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1278	COL1A2	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:166210
1278	COL1A2	HP:0002616	Aortic root aneurysm	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1278	COL1A2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1278	COL1A2	HP:6000871	Popcorn calcification	2/20	OMIM:166220
1278	COL1A2	HP:6000871	Popcorn calcification	13/25	OMIM:259420
1278	COL1A2	HP:0008921	Neonatal short-limb short stature	-	OMIM:259420
1278	COL1A2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1278	COL1A2	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
1278	COL1A2	HP:0000175	Cleft palate	2/7	OMIM:615777
1278	COL1A2	HP:0005005	Femoral bowing present at birth, straightening with time	-	OMIM:166220
1278	COL1A2	HP:0500041	Myopic astigmatism	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0032523	Tendon thickening	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0002757	Recurrent fractures	-	OMIM:259420
1278	COL1A2	HP:0002757	Recurrent fractures	4/5	OMIM:259770
1278	COL1A2	HP:0002757	Recurrent fractures	-	OMIM:166210
1278	COL1A2	HP:0002757	Recurrent fractures	-	OMIM:166220
1278	COL1A2	HP:0002757	Recurrent fractures	4/5	OMIM:619120
1278	COL1A2	HP:0002756	Pathologic fracture	-	OMIM:259770
1278	COL1A2	HP:0002756	Pathologic fracture	1/1	OMIM:612394
1278	COL1A2	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0002751	Kyphoscoliosis	-	OMIM:259770
1278	COL1A2	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
1278	COL1A2	HP:0002007	Frontal bossing	-	OMIM:259420
1278	COL1A2	HP:0003307	Hyperlordosis	-	OMIM:617821
1278	COL1A2	HP:0003321	Biconcave flattened vertebrae	-	OMIM:166220
1278	COL1A2	HP:0100541	Femoral hernia	HP:0040283	ORPHA:1899
1278	COL1A2	HP:0100550	Tendon rupture	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0002094	Dyspnea	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0002092	Pulmonary arterial hypertension	-	OMIM:259420
1278	COL1A2	HP:0002093	Respiratory insufficiency	-	OMIM:166210
1278	COL1A2	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
1278	COL1A2	HP:0003388	Easy fatigability	36/76	OMIM:131300
1278	COL1A2	HP:0010444	Pulmonic regurgitation	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0010444	Pulmonic regurgitation	-	OMIM:166210
1278	COL1A2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1278	COL1A2	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
1278	COL1A2	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
1278	COL1A2	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
1278	COL1A2	HP:0002194	Delayed gross motor development	-	OMIM:617821
1278	COL1A2	HP:0002164	Nail dysplasia	1/1	OMIM:612394
1278	COL1A2	HP:0010557	Overlapping fingers	1/2	OMIM:612394
1278	COL1A2	HP:0010547	Muscle flaccidity	HP:0040281	ORPHA:1899
1278	COL1A2	HP:0010529	Echolalia	HP:0040281	ORPHA:1899
1278	COL1A2	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
1278	COL1A2	HP:0003593	Infantile onset	1/5	OMIM:259770
1278	COL1A2	HP:0003577	Congenital onset	4/5	OMIM:259770
1278	COL1A2	HP:0003577	Congenital onset	1/1	OMIM:617821
1278	COL1A2	HP:0003577	Congenital onset	3/5	OMIM:619120
1278	COL1A2	HP:0002208	Coarse hair	1/1	OMIM:612394
1278	COL1A2	HP:0010648	Dermal translucency	5/5	OMIM:619120
1278	COL1A2	HP:0003510	Severe short stature	7/7	OMIM:615777
1278	COL1A2	HP:0003510	Severe short stature	HP:0040281	ORPHA:1899
1278	COL1A2	HP:0001058	Poor wound healing	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0001058	Poor wound healing	2/5	OMIM:619120
1278	COL1A2	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
1278	COL1A2	HP:0002381	Aphasia	HP:0040281	ORPHA:1899
1278	COL1A2	HP:0025019	Arterial rupture	1/5	OMIM:619120
1278	COL1A2	HP:0025019	Arterial rupture	1/1	OMIM:612394
1278	COL1A2	HP:0001030	Fragile skin	-	OMIM:617821
1278	COL1A2	HP:0001027	Soft, doughy skin	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0002315	Headache	-	OMIM:131300
1278	COL1A2	HP:0004976	Knee dislocation	6/7	OMIM:615777
1278	COL1A2	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
1278	COL1A2	HP:0001001	Abnormality of subcutaneous fat tissue	HP:0040281	ORPHA:1899
1278	COL1A2	HP:0009826	Limb undergrowth	2/2	OMIM:166210
1278	COL1A2	HP:0001075	Atrophic scars	-	OMIM:225320
1278	COL1A2	HP:0001075	Atrophic scars	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0001075	Atrophic scars	HP:0040284	OMIM:617821
1278	COL1A2	HP:0009803	Short phalanx of finger	-	OMIM:615777
1278	COL1A2	HP:0001089	Iris atrophy	-	OMIM:259770
1278	COL1A2	HP:0032153	Joint subluxation	-	OMIM:617821
1278	COL1A2	HP:0100699	Scarring	HP:0040281	ORPHA:1899
1278	COL1A2	HP:0009763	Limb pain	63/92	OMIM:131300
1278	COL1A2	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
1278	COL1A2	HP:0002300	Mutism	HP:0040281	ORPHA:1899
1278	COL1A2	HP:0003621	Juvenile onset	-	OMIM:131300
1278	COL1A2	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
1278	COL1A2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1278	COL1A2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1278	COL1A2	HP:6001056	Out-toeing	-	OMIM:131300
1278	COL1A2	HP:0000651	Diplopia	-	OMIM:131300
1278	COL1A2	HP:0000618	Blindness	5/5	OMIM:259770
1278	COL1A2	HP:0001956	Truncal obesity	2/7	OMIM:615777
1278	COL1A2	HP:0001903	Anemia	HP:0040283	OMIM:131300
1278	COL1A2	HP:0010049	Short metacarpal	-	OMIM:615777
1278	COL1A2	HP:0000678	Dental crowding	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0000678	Dental crowding	-	OMIM:615777
1278	COL1A2	HP:0000670	Carious teeth	-	OMIM:131300
1278	COL1A2	HP:0011304	Broad thumb	2/7	OMIM:615777
1278	COL1A2	HP:0000668	Hypodontia	-	OMIM:615777
1278	COL1A2	HP:0000667	Phthisis bulbi	-	OMIM:259770
1278	COL1A2	HP:0000664	Synophrys	-	OMIM:615777
1278	COL1A2	HP:0004322	Short stature	2/4	OMIM:619120
1278	COL1A2	HP:0004322	Short stature	-	OMIM:259770
1278	COL1A2	HP:0004322	Short stature	-	OMIM:166220
1278	COL1A2	HP:0004322	Short stature	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0005623	Absent ossification of calvaria	1/1	OMIM:166210
1278	COL1A2	HP:0005622	Broad long bones	-	OMIM:166210
1278	COL1A2	HP:0004396	Poor appetite	-	OMIM:131300
1278	COL1A2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1278	COL1A2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1278	COL1A2	HP:0003016	Metaphyseal widening	-	OMIM:259770
1278	COL1A2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1278	COL1A2	HP:0003026	Short long bone	7/7	OMIM:615777
1278	COL1A2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1278	COL1A2	HP:0003023	Bowing of limbs due to multiple fractures	-	OMIM:166220
1278	COL1A2	HP:0003023	Bowing of limbs due to multiple fractures	-	OMIM:259420
1278	COL1A2	HP:0004349	Reduced bone mineral density	-	OMIM:166220
1278	COL1A2	HP:0000767	Pectus excavatum	-	OMIM:225320
1278	COL1A2	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1278	COL1A2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1278	COL1A2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1278	COL1A2	HP:0000750	Delayed speech and language development	-	OMIM:615777
1278	COL1A2	HP:0012717	Severe conductive hearing impairment	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0000703	Dentinogenesis imperfecta	-	OMIM:259420
1278	COL1A2	HP:0000703	Dentinogenesis imperfecta	-	OMIM:166220
1278	COL1A2	HP:0011463	Childhood onset	2/5	OMIM:619120
1278	COL1A2	HP:0011461	Fetal onset	7/7	OMIM:615777
1278	COL1A2	HP:0011461	Fetal onset	2/2	OMIM:612394
1278	COL1A2	HP:0000774	Narrow chest	2/7	OMIM:615777
1278	COL1A2	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
1278	COL1A2	HP:0003100	Slender long bone	-	OMIM:259420
1278	COL1A2	HP:0005758	Basilar impression	-	OMIM:259420
1278	COL1A2	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040281	ORPHA:1899
1278	COL1A2	HP:0003196	Short nose	1/1	OMIM:612394
1278	COL1A2	HP:0000926	Platyspondyly	-	OMIM:259770
1278	COL1A2	HP:0000926	Platyspondyly	1/7	OMIM:615777
1278	COL1A2	HP:0000926	Platyspondyly	-	OMIM:166210
1278	COL1A2	HP:0000926	Platyspondyly	1/1	OMIM:612394
1278	COL1A2	HP:0003179	Protrusio acetabuli	-	OMIM:259420
1278	COL1A2	HP:0003180	Flat acetabular roof	-	OMIM:615777
1278	COL1A2	HP:0004482	Relative macrocephaly	-	OMIM:615777
1278	COL1A2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1278	COL1A2	HP:0000883	Thin ribs	-	OMIM:259420
1278	COL1A2	HP:0000883	Thin ribs	1/1	OMIM:166210
1278	COL1A2	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
1278	COL1A2	HP:0000823	Delayed puberty	-	OMIM:131300
1278	COL1A2	HP:0000894	Short clavicles	-	OMIM:615777
1278	COL1A2	HP:0005897	Severe generalized osteoporosis	-	OMIM:259420
1278	COL1A2	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
1278	COL1A2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1278	COL1A2	HP:0005855	Multiple prenatal fractures	2/2	OMIM:166210
1278	COL1A2	HP:0005855	Multiple prenatal fractures	-	OMIM:259420
1278	COL1A2	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
1278	COL1A2	HP:0004586	Biconcave vertebral bodies	-	OMIM:259420
1278	COL1A2	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0000978	Bruising susceptibility	-	OMIM:617821
1278	COL1A2	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
1278	COL1A2	HP:0000978	Bruising susceptibility	-	OMIM:225320
1278	COL1A2	HP:0000978	Bruising susceptibility	5/5	OMIM:619120
1278	COL1A2	HP:0000977	Soft skin	-	OMIM:225320
1278	COL1A2	HP:0000977	Soft skin	-	OMIM:617821
1278	COL1A2	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:230851
1278	COL1A2	HP:0000974	Hyperextensible skin	-	OMIM:617821
1278	COL1A2	HP:0000974	Hyperextensible skin	-	OMIM:225320
1278	COL1A2	HP:0000974	Hyperextensible skin	5/5	OMIM:619120
1278	COL1A2	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:1899
1278	COL1A2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1278	COL1A2	HP:0000963	Thin skin	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0000963	Thin skin	-	OMIM:166210
1278	COL1A2	HP:0000963	Thin skin	-	OMIM:225320
1278	COL1A2	HP:0000963	Thin skin	HP:0040281	ORPHA:1899
1278	COL1A2	HP:0000939	Osteoporosis	-	OMIM:166710
1278	COL1A2	HP:0000939	Osteoporosis	4/5	OMIM:259770
1278	COL1A2	HP:0000938	Osteopenia	1/5	OMIM:259770
1278	COL1A2	HP:0000938	Osteopenia	1/1	OMIM:612394
1278	COL1A2	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
1278	COL1A2	HP:0000286	Epicanthus	HP:0040282	ORPHA:1899
1278	COL1A2	HP:0000286	Epicanthus	1/7	OMIM:615777
1278	COL1A2	HP:0000280	Coarse facial features	2/7	OMIM:615777
1278	COL1A2	HP:0000278	Retrognathia	HP:0040282	ORPHA:1899
1278	COL1A2	HP:0001591	Bell-shaped thorax	1/1	OMIM:166210
1278	COL1A2	HP:0000260	Wide anterior fontanel	-	OMIM:259420
1278	COL1A2	HP:0000272	Malar flattening	1/1	OMIM:612394
1278	COL1A2	HP:0007773	Vitreoretinopathy	-	OMIM:259770
1278	COL1A2	HP:0002816	Genu recurvatum	-	OMIM:225320
1278	COL1A2	HP:0002816	Genu recurvatum	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0002812	Coxa vara	HP:0040281	ORPHA:1899
1278	COL1A2	HP:0002827	Hip dislocation	1/1	OMIM:617821
1278	COL1A2	HP:0002827	Hip dislocation	3/7	OMIM:615777
1278	COL1A2	HP:0002827	Hip dislocation	HP:0040281	ORPHA:1899
1278	COL1A2	HP:0002808	Kyphosis	-	OMIM:259420
1278	COL1A2	HP:0002808	Kyphosis	1/5	OMIM:259770
1278	COL1A2	HP:0002808	Kyphosis	-	OMIM:166220
1278	COL1A2	HP:0002808	Kyphosis	-	OMIM:617821
1278	COL1A2	HP:0006367	Crumpled long bones	1/1	OMIM:166210
1278	COL1A2	HP:0000239	Large fontanelles	-	OMIM:166210
1278	COL1A2	HP:0000252	Microcephaly	-	OMIM:259770
1278	COL1A2	HP:0000252	Microcephaly	-	OMIM:615777
1278	COL1A2	HP:0001552	Barrel-shaped chest	-	OMIM:259770
1278	COL1A2	HP:0000218	High palate	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0002857	Genu valgum	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0002857	Genu valgum	-	OMIM:131300
1278	COL1A2	HP:0001533	Slender build	-	OMIM:131300
1278	COL1A2	HP:0001519	Disproportionate tall stature	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0001518	Small for gestational age	-	OMIM:166210
1278	COL1A2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1278	COL1A2	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
1278	COL1A2	HP:0007807	Optic nerve compression	-	OMIM:131300
1278	COL1A2	HP:0012378	Fatigue	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0012368	Flat face	7/7	OMIM:615777
1278	COL1A2	HP:0012368	Flat face	1/1	OMIM:612394
1278	COL1A2	HP:0005257	Thoracic hypoplasia	1/1	OMIM:166210
1278	COL1A2	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
1278	COL1A2	HP:0007875	Congenital blindness	4/5	OMIM:259770
1278	COL1A2	HP:0007862	Retinal calcification	1/5	OMIM:259770
1278	COL1A2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1278	COL1A2	HP:0002944	Thoracolumbar scoliosis	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0005180	Tricuspid regurgitation	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0000362	Otosclerosis	-	OMIM:166220
1278	COL1A2	HP:0000365	Hearing impairment	-	OMIM:166220
1278	COL1A2	HP:0000365	Hearing impairment	-	OMIM:259420
1278	COL1A2	HP:0000365	Hearing impairment	10/67	OMIM:131300
1278	COL1A2	HP:0000369	Low-set ears	2/2	OMIM:612394
1278	COL1A2	HP:0000343	Long philtrum	1/7	OMIM:615777
1278	COL1A2	HP:0011001	Increased bone mineral density	-	OMIM:131300
1278	COL1A2	HP:0000347	Micrognathia	HP:0040282	ORPHA:1899
1278	COL1A2	HP:0000347	Micrognathia	-	OMIM:259420
1278	COL1A2	HP:0002982	Tibial bowing	-	OMIM:259420
1278	COL1A2	HP:0002982	Tibial bowing	1/5	OMIM:259770
1278	COL1A2	HP:0002982	Tibial bowing	-	OMIM:166210
1278	COL1A2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:1899
1278	COL1A2	HP:0000311	Round face	2/7	OMIM:615777
1278	COL1A2	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0001659	Aortic regurgitation	-	OMIM:225320
1278	COL1A2	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:230851
1278	COL1A2	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
1278	COL1A2	HP:0001653	Mitral regurgitation	HP:0040281	ORPHA:230851
1278	COL1A2	HP:0001653	Mitral regurgitation	-	OMIM:225320
1278	COL1A2	HP:0000325	Triangular face	-	OMIM:259420
1278	COL1A2	HP:0001629	Ventricular septal defect	-	OMIM:259770
1278	COL1A2	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
1278	COL1A2	HP:0001623	Breech presentation	-	OMIM:617821
1278	COL1A2	HP:0001622	Premature birth	-	OMIM:166210
1278	COL1A2	HP:0002970	Genu varum	-	OMIM:615777
1278	COL1A2	HP:0001635	Congestive heart failure	-	OMIM:166210
1278	COL1A2	HP:0000307	Pointed chin	1/2	OMIM:612394
1278	COL1A2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0000303	Mandibular prognathia	-	OMIM:131300
1278	COL1A2	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0001634	Mitral valve prolapse	-	OMIM:225320
1278	COL1A2	HP:0031610	Recurrent shoulder dislocation	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0006640	Multiple rib fractures	1/1	OMIM:166210
1278	COL1A2	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
1278	COL1A2	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1278	COL1A2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1899
1278	COL1A2	HP:0000486	Strabismus	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0000463	Anteverted nares	1/1	OMIM:612394
1278	COL1A2	HP:0001790	Nonimmune hydrops fetalis	-	OMIM:166210
1278	COL1A2	HP:0000470	Short neck	1/7	OMIM:615777
1278	COL1A2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1278	COL1A2	HP:0001763	Pes planus	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0001763	Pes planus	-	OMIM:617821
1278	COL1A2	HP:0001763	Pes planus	1/7	OMIM:615777
1278	COL1A2	HP:0001763	Pes planus	-	OMIM:225320
1278	COL1A2	HP:0000444	Convex nasal ridge	-	OMIM:166210
1278	COL1A2	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
1278	COL1A2	HP:0000414	Bulbous nose	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0001762	Talipes equinovarus	HP:0040284	OMIM:617821
1278	COL1A2	HP:0005474	Decreased calvarial ossification	-	OMIM:259420
1278	COL1A2	HP:0000518	Cataract	1/5	OMIM:259770
1278	COL1A2	HP:0000518	Cataract	1/1	OMIM:612394
1278	COL1A2	HP:0001848	Calcaneovalgus deformity	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0001848	Calcaneovalgus deformity	-	OMIM:225320
1278	COL1A2	HP:0001840	Metatarsus adductus	-	OMIM:615777
1278	COL1A2	HP:0001852	Sandal gap	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0000520	Proptosis	2/4	OMIM:131300
1278	COL1A2	HP:0000520	Proptosis	7/7	OMIM:615777
1278	COL1A2	HP:0001822	Hallux valgus	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0001822	Hallux valgus	-	OMIM:617821
1278	COL1A2	HP:0000508	Ptosis	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0000592	Blue sclerae	-	OMIM:259420
1278	COL1A2	HP:0000592	Blue sclerae	2/7	OMIM:615777
1278	COL1A2	HP:0000592	Blue sclerae	-	OMIM:166210
1278	COL1A2	HP:0000592	Blue sclerae	-	OMIM:166220
1278	COL1A2	HP:0000592	Blue sclerae	5/5	OMIM:619120
1278	COL1A2	HP:0000586	Shallow orbits	1/1	OMIM:612394
1278	COL1A2	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:230851
1278	COL1A2	HP:0000568	Microphthalmia	1/5	OMIM:259770
1278	COL1A2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1278	COL1A2	HP:0012514	Lower limb pain	4/4	OMIM:131300
1278	COL1A2	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
1278	COL1A2	HP:0000545	Myopia	HP:0040282	ORPHA:230851
1278	COL1A2	HP:0000545	Myopia	1/1	OMIM:612394
1280	COL2A1	HP:0001169	Broad palm	-	OMIM:271700
1280	COL2A1	HP:0001156	Brachydactyly	-	OMIM:132450
1280	COL2A1	HP:0001156	Brachydactyly	-	OMIM:619248
1280	COL2A1	HP:0001156	Brachydactyly	1/1	OMIM:271700
1280	COL2A1	HP:0001156	Brachydactyly	1/2	OMIM:151210
1280	COL2A1	HP:0001156	Brachydactyly	1/2	OMIM:184250
1280	COL2A1	HP:0001166	Arachnodactyly	-	OMIM:108300
1280	COL2A1	HP:0003796	Irregular iliac crest	HP:0040283	ORPHA:93316
1280	COL2A1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
1280	COL2A1	HP:0001132	Lens subluxation	HP:0040283	ORPHA:93296
1280	COL2A1	HP:0001123	Visual field defect	-	OMIM:143200
1280	COL2A1	HP:0007311	Short stepped shuffling gait	HP:0040282	ORPHA:86820
1280	COL2A1	HP:0001191	Abnormal carpal morphology	HP:0040281	ORPHA:85166
1280	COL2A1	HP:0010885	Avascular necrosis	HP:0040281	ORPHA:2380
1280	COL2A1	HP:0010891	Morbus Scheuermann	9/22	OMIM:108300
1280	COL2A1	HP:0008577	Underfolded helix	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0009896	Abnormal antitragus morphology	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0009882	Short distal phalanx of finger	-	OMIM:271700
1280	COL2A1	HP:0009882	Short distal phalanx of finger	HP:0040284	ORPHA:93315
1280	COL2A1	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:85166
1280	COL2A1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1280	COL2A1	HP:0032208	Increased urinary type 1 collagen N-terminal telopeptide level	HP:0040284	ORPHA:93315
1280	COL2A1	HP:0001293	Cranial nerve compression	-	OMIM:131300
1280	COL2A1	HP:0001290	Generalized hypotonia	-	OMIM:183900
1280	COL2A1	HP:0025258	Stiff neck	2/3	OMIM:616583
1280	COL2A1	HP:0001270	Motor delay	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0001270	Motor delay	-	OMIM:156550
1280	COL2A1	HP:0001288	Gait disturbance	-	OMIM:156550
1280	COL2A1	HP:0001252	Hypotonia	-	OMIM:183900
1280	COL2A1	HP:0001252	Hypotonia	2/7	OMIM:615777
1280	COL2A1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:90653
1280	COL2A1	HP:0001249	Intellectual disability	0/2	OMIM:184250
1280	COL2A1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:85198
1280	COL2A1	HP:0001249	Intellectual disability	5/7	OMIM:615777
1280	COL2A1	HP:0001248	Short tubular bones of the hand	-	OMIM:200610
1280	COL2A1	HP:0001248	Short tubular bones of the hand	-	OMIM:184253
1280	COL2A1	HP:0001263	Global developmental delay	-	OMIM:615777
1280	COL2A1	HP:6000653	Crescent-shaped iliac bone	-	OMIM:200610
1280	COL2A1	HP:0006110	Shortening of all middle phalanges of the fingers	1/1	OMIM:271700
1280	COL2A1	HP:0008755	Laryngotracheomalacia	HP:0040284	ORPHA:485
1280	COL2A1	HP:0008755	Laryngotracheomalacia	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0008755	Laryngotracheomalacia	HP:0040283	ORPHA:93346
1280	COL2A1	HP:0100864	Short femoral neck	-	OMIM:184255
1280	COL2A1	HP:0100864	Short femoral neck	HP:0040283	ORPHA:93316
1280	COL2A1	HP:0100864	Short femoral neck	-	OMIM:609162
1280	COL2A1	HP:0100864	Short femoral neck	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0100866	Short iliac bones	HP:0040282	ORPHA:93316
1280	COL2A1	HP:0031058	Impairment of activities of daily living	HP:0040282	ORPHA:86820
1280	COL2A1	HP:0031096	Delayed vertebral ossification	HP:0040282	ORPHA:93296
1280	COL2A1	HP:0003865	Bowed humerus	-	OMIM:184253
1280	COL2A1	HP:0001216	Delayed ossification of carpal bones	HP:0040283	ORPHA:93346
1280	COL2A1	HP:0002515	Waddling gait	3/3	OMIM:616583
1280	COL2A1	HP:0002515	Waddling gait	54/102	OMIM:131300
1280	COL2A1	HP:0002515	Waddling gait	-	OMIM:609162
1280	COL2A1	HP:0002515	Waddling gait	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0002515	Waddling gait	-	OMIM:183900
1280	COL2A1	HP:0002515	Waddling gait	-	OMIM:184255
1280	COL2A1	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:85198
1280	COL2A1	HP:0003826	Stillbirth	1/2	OMIM:151210
1280	COL2A1	HP:0003826	Stillbirth	-	OMIM:200610
1280	COL2A1	HP:0006095	Wide tufts of distal phalanges	-	OMIM:154780
1280	COL2A1	HP:0008812	Flattened femoral head	HP:0040283	ORPHA:1856
1280	COL2A1	HP:0008812	Flattened femoral head	HP:0040282	ORPHA:86820
1280	COL2A1	HP:0012069	Keratan sulfate excretion in urine	HP:0040281	ORPHA:485
1280	COL2A1	HP:0008800	Limited hip movement	HP:0040282	ORPHA:86820
1280	COL2A1	HP:0008800	Limited hip movement	-	OMIM:183900
1280	COL2A1	HP:0008800	Limited hip movement	HP:0040283	ORPHA:93346
1280	COL2A1	HP:0001377	Limited elbow extension	1/1	OMIM:271700
1280	COL2A1	HP:0001377	Limited elbow extension	HP:0040283	ORPHA:1856
1280	COL2A1	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:93315
1280	COL2A1	HP:0001376	Limitation of joint mobility	5/5	OMIM:609162
1280	COL2A1	HP:0001376	Limitation of joint mobility	-	OMIM:156550
1280	COL2A1	HP:0001371	Flexion contracture	-	OMIM:609162
1280	COL2A1	HP:0001373	Joint dislocation	HP:0040281	ORPHA:2380
1280	COL2A1	HP:0001373	Joint dislocation	HP:0040281	ORPHA:85198
1280	COL2A1	HP:0001367	Abnormal joint morphology	HP:0040281	ORPHA:485
1280	COL2A1	HP:0001369	Arthritis	15/25	OMIM:108300
1280	COL2A1	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:1856
1280	COL2A1	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:93316
1280	COL2A1	HP:0001387	Joint stiffness	-	OMIM:616583
1280	COL2A1	HP:0001387	Joint stiffness	3/3	OMIM:108300
1280	COL2A1	HP:0001387	Joint stiffness	HP:0040281	ORPHA:485
1280	COL2A1	HP:0001387	Joint stiffness	10/10	OMIM:604864
1280	COL2A1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:90653
1280	COL2A1	HP:0001382	Joint hypermobility	13/25	OMIM:108300
1280	COL2A1	HP:0001382	Joint hypermobility	-	OMIM:615777
1280	COL2A1	HP:0001384	Abnormal hip joint morphology	HP:0040282	ORPHA:1856
1280	COL2A1	HP:0012019	Lens luxation	HP:0040283	ORPHA:485
1280	COL2A1	HP:0012019	Lens luxation	-	OMIM:154780
1280	COL2A1	HP:0000023	Inguinal hernia	-	OMIM:156550
1280	COL2A1	HP:0000023	Inguinal hernia	-	OMIM:184250
1280	COL2A1	HP:0002684	Thickened calvaria	-	OMIM:154780
1280	COL2A1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1280	COL2A1	HP:0002688	Absent frontal sinuses	-	OMIM:154780
1280	COL2A1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1280	COL2A1	HP:0008873	Disproportionate short-limb short stature	2/2	OMIM:184250
1280	COL2A1	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:85166
1280	COL2A1	HP:0008873	Disproportionate short-limb short stature	-	OMIM:200610
1280	COL2A1	HP:0008857	Neonatal short-trunk short stature	-	OMIM:183900
1280	COL2A1	HP:0008839	Hypoplastic pelvis	-	OMIM:184253
1280	COL2A1	HP:0008839	Hypoplastic pelvis	-	OMIM:156550
1280	COL2A1	HP:0008839	Hypoplastic pelvis	HP:0040281	ORPHA:85166
1280	COL2A1	HP:0008843	Hip osteoarthritis	10/10	OMIM:604864
1280	COL2A1	HP:0008843	Hip osteoarthritis	-	OMIM:619248
1280	COL2A1	HP:0008843	Hip osteoarthritis	HP:0040282	ORPHA:86820
1280	COL2A1	HP:0008828	Delayed proximal femoral epiphyseal ossification	HP:0040282	ORPHA:93296
1280	COL2A1	HP:0008833	Irregular acetabular roof	HP:0040283	ORPHA:93316
1280	COL2A1	HP:0008819	Narrow femoral neck	-	OMIM:609162
1280	COL2A1	HP:0003908	Corner fracture of metaphysis	-	OMIM:184255
1280	COL2A1	HP:0003908	Corner fracture of metaphysis	HP:0040281	ORPHA:93315
1280	COL2A1	HP:0031153	Membranous vitreous appearance	-	OMIM:108300
1280	COL2A1	HP:0006172	Flattened, squared-off epiphyses of tubular bones	-	OMIM:156550
1280	COL2A1	HP:0006144	Shortening of all proximal phalanges of the fingers	-	OMIM:271700
1280	COL2A1	HP:0008788	Delayed pubic bone ossification	-	OMIM:183900
1280	COL2A1	HP:0008788	Delayed pubic bone ossification	HP:0040282	ORPHA:93296
1280	COL2A1	HP:0008788	Delayed pubic bone ossification	-	OMIM:184250
1280	COL2A1	HP:0008788	Delayed pubic bone ossification	HP:0040282	ORPHA:1856
1280	COL2A1	HP:0002663	Delayed epiphyseal ossification	HP:0040281	ORPHA:485
1280	COL2A1	HP:0002663	Delayed epiphyseal ossification	-	OMIM:156550
1280	COL2A1	HP:0002659	Increased susceptibility to fractures	HP:0040284	ORPHA:93315
1280	COL2A1	HP:0002656	Epiphyseal dysplasia	-	OMIM:132450
1280	COL2A1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1280	COL2A1	HP:0002656	Epiphyseal dysplasia	-	OMIM:184840
1280	COL2A1	HP:0001324	Muscle weakness	40/96	OMIM:131300
1280	COL2A1	HP:0002657	Spondylometaphyseal dysplasia	-	OMIM:184255
1280	COL2A1	HP:0002657	Spondylometaphyseal dysplasia	-	OMIM:184253
1280	COL2A1	HP:0002657	Spondylometaphyseal dysplasia	HP:0040281	ORPHA:85198
1280	COL2A1	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:271700
1280	COL2A1	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:616583
1280	COL2A1	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:108300
1280	COL2A1	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:183900
1280	COL2A1	HP:0002673	Coxa valga	-	OMIM:132450
1280	COL2A1	HP:0002673	Coxa valga	-	OMIM:154780
1280	COL2A1	HP:0002673	Coxa valga	2/3	OMIM:616583
1280	COL2A1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1280	COL2A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
1280	COL2A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616583
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:608805
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:184255
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:184253
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:184250
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:132450
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:609162
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:154780
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:183900
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619248
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:604864
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:156550
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:143200
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:151210
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:200610
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:184840
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:150600
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:271700
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:108300
1280	COL2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:609508
1280	COL2A1	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:90653
1280	COL2A1	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:85166
1280	COL2A1	HP:0002652	Skeletal dysplasia	HP:0040282	ORPHA:93296
1280	COL2A1	HP:0002650	Scoliosis	-	OMIM:609162
1280	COL2A1	HP:0002650	Scoliosis	HP:0040281	ORPHA:85198
1280	COL2A1	HP:0002650	Scoliosis	HP:0040281	ORPHA:94068
1280	COL2A1	HP:0002650	Scoliosis	52/93	OMIM:183900
1280	COL2A1	HP:0002650	Scoliosis	12/14	OMIM:131300
1280	COL2A1	HP:0002650	Scoliosis	7/9	OMIM:184255
1280	COL2A1	HP:0002650	Scoliosis	-	OMIM:184250
1280	COL2A1	HP:0002650	Scoliosis	8/22	OMIM:108300
1280	COL2A1	HP:0002650	Scoliosis	HP:0040282	ORPHA:93315
1280	COL2A1	HP:0002650	Scoliosis	HP:0040282	ORPHA:93316
1280	COL2A1	HP:0002651	Spondyloepimetaphyseal dysplasia	-	OMIM:184250
1280	COL2A1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1280	COL2A1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1280	COL2A1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1280	COL2A1	HP:0008921	Neonatal short-limb short stature	-	OMIM:151210
1280	COL2A1	HP:0008905	Rhizomelia	1/1	OMIM:156550
1280	COL2A1	HP:0008905	Rhizomelia	1/2	OMIM:151210
1280	COL2A1	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:93316
1280	COL2A1	HP:0000179	Thick lower lip vermilion	-	OMIM:154780
1280	COL2A1	HP:0025474	Erythematous plaque	HP:0040283	ORPHA:485
1280	COL2A1	HP:0000193	Bifid uvula	4/9	OMIM:154780
1280	COL2A1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1280	COL2A1	HP:0000193	Bifid uvula	2/93	OMIM:183900
1280	COL2A1	HP:0000193	Bifid uvula	11/47	OMIM:108300
1280	COL2A1	HP:6000866	Delayed distal femoral epiphyseal ossification	-	OMIM:200610
1280	COL2A1	HP:6000867	Delayed tibial epiphyseal ossification	1/1	OMIM:200610
1280	COL2A1	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:2380
1280	COL2A1	HP:0000164	Abnormality of the dentition	HP:0040284	ORPHA:93315
1280	COL2A1	HP:0001498	Carpal bone hypoplasia	-	OMIM:184253
1280	COL2A1	HP:0000160	Narrow mouth	-	OMIM:132450
1280	COL2A1	HP:0000162	Glossoptosis	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0000162	Glossoptosis	HP:0040282	ORPHA:166100
1280	COL2A1	HP:0000162	Glossoptosis	HP:0040282	ORPHA:93346
1280	COL2A1	HP:0001488	Bilateral ptosis	HP:0040283	ORPHA:485
1280	COL2A1	HP:0000176	Submucous cleft hard palate	6/22	OMIM:108300
1280	COL2A1	HP:0000175	Cleft palate	-	OMIM:184840
1280	COL2A1	HP:0000175	Cleft palate	HP:0040282	ORPHA:90653
1280	COL2A1	HP:0000175	Cleft palate	HP:0040282	ORPHA:1856
1280	COL2A1	HP:0000175	Cleft palate	HP:0040282	ORPHA:485
1280	COL2A1	HP:0000175	Cleft palate	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0000175	Cleft palate	1/1	OMIM:156550
1280	COL2A1	HP:0000175	Cleft palate	HP:0040281	ORPHA:166100
1280	COL2A1	HP:0000175	Cleft palate	20/93	OMIM:183900
1280	COL2A1	HP:0000175	Cleft palate	HP:0040283	ORPHA:85166
1280	COL2A1	HP:0000175	Cleft palate	4/9	OMIM:154780
1280	COL2A1	HP:0000175	Cleft palate	-	OMIM:184250
1280	COL2A1	HP:0000175	Cleft palate	8/28	OMIM:108300
1280	COL2A1	HP:0000175	Cleft palate	2/7	OMIM:615777
1280	COL2A1	HP:0000175	Cleft palate	-	OMIM:200610
1280	COL2A1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
1280	COL2A1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
1280	COL2A1	HP:0007643	Peripheral tractional retinal detachment	-	OMIM:143200
1280	COL2A1	HP:0012106	Rhizomelic leg shortening	1/1	OMIM:271700
1280	COL2A1	HP:0002779	Tracheomalacia	-	OMIM:156550
1280	COL2A1	HP:0002795	Abnormal respiratory system physiology	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0002795	Abnormal respiratory system physiology	HP:0040283	ORPHA:93346
1280	COL2A1	HP:0002761	Generalized joint hypermobility	HP:0040281	ORPHA:85198
1280	COL2A1	HP:0001426	Non-Mendelian inheritance	-	OMIM:150600
1280	COL2A1	HP:0002758	Osteoarthritis	18/22	OMIM:108300
1280	COL2A1	HP:0002758	Osteoarthritis	HP:0040282	ORPHA:90653
1280	COL2A1	HP:0002758	Osteoarthritis	HP:0040282	ORPHA:85198
1280	COL2A1	HP:0002758	Osteoarthritis	HP:0040282	ORPHA:166100
1280	COL2A1	HP:0002751	Kyphoscoliosis	2/3	OMIM:616583
1280	COL2A1	HP:0002751	Kyphoscoliosis	HP:0040281	ORPHA:85198
1280	COL2A1	HP:0002751	Kyphoscoliosis	-	OMIM:184253
1280	COL2A1	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:93316
1280	COL2A1	HP:0002750	Delayed skeletal maturation	-	OMIM:150600
1280	COL2A1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:85198
1280	COL2A1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2380
1280	COL2A1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:93316
1280	COL2A1	HP:0003365	Arthralgia of the hip	HP:0040283	ORPHA:1856
1280	COL2A1	HP:0003366	Abnormal femoral neck/head morphology	HP:0040281	ORPHA:86820
1280	COL2A1	HP:0002033	Poor suck	HP:0040283	ORPHA:93316
1280	COL2A1	HP:0003330	Abnormal bone structure	HP:0040281	ORPHA:485
1280	COL2A1	HP:0002007	Frontal bossing	1/1	OMIM:200610
1280	COL2A1	HP:0003311	Hypoplasia of the odontoid process	-	OMIM:184255
1280	COL2A1	HP:0003311	Hypoplasia of the odontoid process	1/2	OMIM:184250
1280	COL2A1	HP:0003311	Hypoplasia of the odontoid process	HP:0040282	ORPHA:485
1280	COL2A1	HP:0003311	Hypoplasia of the odontoid process	28/42	OMIM:183900
1280	COL2A1	HP:0003307	Hyperlordosis	-	OMIM:184250
1280	COL2A1	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0003320	C1-C2 subluxation	-	OMIM:184250
1280	COL2A1	HP:0004619	Lumbar kyphoscoliosis	-	OMIM:156550
1280	COL2A1	HP:0003301	Irregular vertebral endplates	1/1	OMIM:271700
1280	COL2A1	HP:0003301	Irregular vertebral endplates	5/5	OMIM:609162
1280	COL2A1	HP:0003301	Irregular vertebral endplates	10/10	OMIM:604864
1280	COL2A1	HP:0003302	Spondylolisthesis	4/22	OMIM:108300
1280	COL2A1	HP:0003300	Ovoid vertebral bodies	5/8	OMIM:184255
1280	COL2A1	HP:0003300	Ovoid vertebral bodies	1/1	OMIM:271700
1280	COL2A1	HP:0003300	Ovoid vertebral bodies	1/2	OMIM:151210
1280	COL2A1	HP:0003300	Ovoid vertebral bodies	HP:0040281	ORPHA:93315
1280	COL2A1	HP:0003300	Ovoid vertebral bodies	-	OMIM:183900
1280	COL2A1	HP:0003300	Ovoid vertebral bodies	HP:0040283	ORPHA:1856
1280	COL2A1	HP:0004625	Biconvex vertebral bodies	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0011800	Midface retrusion	-	OMIM:184840
1280	COL2A1	HP:0011800	Midface retrusion	-	OMIM:156550
1280	COL2A1	HP:0011800	Midface retrusion	-	OMIM:271700
1280	COL2A1	HP:0011800	Midface retrusion	9/9	OMIM:154780
1280	COL2A1	HP:0011800	Midface retrusion	1/2	OMIM:151210
1280	COL2A1	HP:0011800	Midface retrusion	18/25	OMIM:108300
1280	COL2A1	HP:0011800	Midface retrusion	HP:0040282	ORPHA:93296
1280	COL2A1	HP:0011800	Midface retrusion	3/28	OMIM:609508
1280	COL2A1	HP:0002089	Pulmonary hypoplasia	1/2	OMIM:151210
1280	COL2A1	HP:0002089	Pulmonary hypoplasia	HP:0040282	ORPHA:85166
1280	COL2A1	HP:0002089	Pulmonary hypoplasia	HP:0040282	ORPHA:93296
1280	COL2A1	HP:0002086	Abnormality of the respiratory system	HP:0040284	ORPHA:485
1280	COL2A1	HP:0002098	Respiratory distress	1/2	OMIM:151210
1280	COL2A1	HP:0002098	Respiratory distress	-	OMIM:156550
1280	COL2A1	HP:0002098	Respiratory distress	-	OMIM:183900
1280	COL2A1	HP:0002091	Restrictive ventilatory defect	-	OMIM:183900
1280	COL2A1	HP:0100559	Lower limb asymmetry	HP:0040282	ORPHA:86820
1280	COL2A1	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0100559	Lower limb asymmetry	HP:0040281	ORPHA:85198
1280	COL2A1	HP:0003375	Narrow greater sciatic notch	-	OMIM:184250
1280	COL2A1	HP:0003375	Narrow greater sciatic notch	HP:0040282	ORPHA:93316
1280	COL2A1	HP:0003370	Flat capital femoral epiphysis	1/1	OMIM:271700
1280	COL2A1	HP:0003370	Flat capital femoral epiphysis	-	OMIM:609162
1280	COL2A1	HP:0003388	Easy fatigability	36/76	OMIM:131300
1280	COL2A1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1280	COL2A1	HP:0100569	Abnormally ossified vertebrae	HP:0040282	ORPHA:94068
1280	COL2A1	HP:0100569	Abnormally ossified vertebrae	HP:0040282	ORPHA:93346
1280	COL2A1	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:90653
1280	COL2A1	HP:0004605	Absent vertebral body mineralization	-	OMIM:200610
1280	COL2A1	HP:0004605	Absent vertebral body mineralization	HP:0040282	ORPHA:93296
1280	COL2A1	HP:0004603	Hyperconvex vertebral body endplates	-	OMIM:184255
1280	COL2A1	HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	-	OMIM:619248
1280	COL2A1	HP:0005916	Abnormal metacarpal morphology	HP:0040283	ORPHA:166100
1280	COL2A1	HP:0010454	Acetabular spurs	1/1	OMIM:271700
1280	COL2A1	HP:0008142	Delayed calcaneal ossification	-	OMIM:183900
1280	COL2A1	HP:0003468	Abnormal vertebral morphology	HP:0040281	ORPHA:93315
1280	COL2A1	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:93346
1280	COL2A1	HP:0003467	Atlantoaxial instability	5/32	OMIM:183900
1280	COL2A1	HP:0003422	Vertebral segmentation defect	HP:0040281	ORPHA:85198
1280	COL2A1	HP:0003417	Coronal cleft vertebrae	HP:0040283	ORPHA:485
1280	COL2A1	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:156550
1280	COL2A1	HP:0003418	Back pain	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0002194	Delayed gross motor development	1/2	OMIM:151210
1280	COL2A1	HP:0003498	Disproportionate short stature	HP:0040281	ORPHA:485
1280	COL2A1	HP:0003498	Disproportionate short stature	HP:0040282	ORPHA:1856
1280	COL2A1	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0002176	Spinal cord compression	HP:0040284	ORPHA:485
1280	COL2A1	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:93346
1280	COL2A1	HP:0009566	Short distal phalanx of the 2nd finger	1/1	OMIM:271700
1280	COL2A1	HP:0011860	Metaphyseal dappling	-	OMIM:184250
1280	COL2A1	HP:0011849	Abnormal bone ossification	HP:0040282	ORPHA:93315
1280	COL2A1	HP:0011849	Abnormal bone ossification	HP:0040281	ORPHA:93296
1280	COL2A1	HP:0010501	Limitation of knee mobility	-	OMIM:183900
1280	COL2A1	HP:0010585	Small epiphyses	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0010585	Small epiphyses	HP:0040282	ORPHA:93346
1280	COL2A1	HP:0008271	Abnormal cartilage collagen	HP:0040280	ORPHA:485
1280	COL2A1	HP:0008271	Abnormal cartilage collagen	-	OMIM:156550
1280	COL2A1	HP:0010575	Dysplasia of the femoral head	HP:0040281	ORPHA:94068
1280	COL2A1	HP:0010574	Abnormality of the epiphysis of the femoral head	HP:0040282	ORPHA:485
1280	COL2A1	HP:0010574	Abnormality of the epiphysis of the femoral head	HP:0040282	ORPHA:93316
1280	COL2A1	HP:0010580	Enlarged epiphyses	HP:0040282	ORPHA:485
1280	COL2A1	HP:0010580	Enlarged epiphyses	-	OMIM:184840
1280	COL2A1	HP:0010582	Irregular epiphyses	HP:0040282	ORPHA:1856
1280	COL2A1	HP:0003577	Congenital onset	2/2	OMIM:151210
1280	COL2A1	HP:0003577	Congenital onset	1/1	OMIM:156550
1280	COL2A1	HP:0003577	Congenital onset	1/1	OMIM:271700
1280	COL2A1	HP:0100773	Cartilage destruction	HP:0040281	ORPHA:2380
1280	COL2A1	HP:0008417	Vertebral hypoplasia	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0100777	Exostoses	HP:0040281	ORPHA:85198
1280	COL2A1	HP:0100777	Exostoses	HP:0040283	ORPHA:166100
1280	COL2A1	HP:0100734	Abnormal vertebral epiphysis morphology	HP:0040282	ORPHA:90653
1280	COL2A1	HP:0200083	Severe limb shortening	2/2	OMIM:151210
1280	COL2A1	HP:0010646	Cervical spine instability	HP:0040282	ORPHA:485
1280	COL2A1	HP:0003510	Severe short stature	HP:0040282	ORPHA:93316
1280	COL2A1	HP:0003510	Severe short stature	7/7	OMIM:615777
1280	COL2A1	HP:0003510	Severe short stature	-	OMIM:184253
1280	COL2A1	HP:0003510	Severe short stature	-	OMIM:184250
1280	COL2A1	HP:0003521	Disproportionate short-trunk short stature	HP:0040282	ORPHA:93315
1280	COL2A1	HP:0003521	Disproportionate short-trunk short stature	HP:0040282	ORPHA:93316
1280	COL2A1	HP:0003521	Disproportionate short-trunk short stature	HP:0040281	ORPHA:94068
1280	COL2A1	HP:0003521	Disproportionate short-trunk short stature	HP:0040282	ORPHA:485
1280	COL2A1	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:200610
1280	COL2A1	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:156550
1280	COL2A1	HP:0002318	Cervical myelopathy	-	OMIM:183900
1280	COL2A1	HP:0002315	Headache	-	OMIM:131300
1280	COL2A1	HP:0004976	Knee dislocation	6/7	OMIM:615777
1280	COL2A1	HP:0004991	Rhizomelic arm shortening	1/1	OMIM:271700
1280	COL2A1	HP:0200003	Splayed epiphyses	-	OMIM:156550
1280	COL2A1	HP:0009826	Limb undergrowth	2/2	OMIM:151210
1280	COL2A1	HP:0009815	Aplasia/hypoplasia of the extremities	HP:0040282	ORPHA:485
1280	COL2A1	HP:0001090	Abnormally large globe	1/1	OMIM:200610
1280	COL2A1	HP:0009824	Upper limb undergrowth	HP:0040282	ORPHA:93315
1280	COL2A1	HP:0009824	Upper limb undergrowth	HP:0040282	ORPHA:94068
1280	COL2A1	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:93346
1280	COL2A1	HP:0009803	Short phalanx of finger	-	OMIM:132450
1280	COL2A1	HP:0009803	Short phalanx of finger	-	OMIM:615777
1280	COL2A1	HP:0200041	Skin erosion	HP:0040281	ORPHA:85198
1280	COL2A1	HP:0008462	Cervical instability	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0008462	Cervical instability	HP:0040282	ORPHA:93346
1280	COL2A1	HP:0008452	Wafer-thin platyspondyly	1/2	OMIM:151210
1280	COL2A1	HP:0008440	C1-C2 vertebral abnormality	HP:0040284	ORPHA:93315
1280	COL2A1	HP:0009778	Short thumb	-	OMIM:271700
1280	COL2A1	HP:0010743	Short metatarsal	-	OMIM:271700
1280	COL2A1	HP:0010743	Short metatarsal	5/5	OMIM:609162
1280	COL2A1	HP:0010743	Short metatarsal	HP:0040283	ORPHA:1856
1280	COL2A1	HP:0009763	Limb pain	63/92	OMIM:131300
1280	COL2A1	HP:0009763	Limb pain	HP:0040282	ORPHA:93315
1280	COL2A1	HP:0008422	Vertebral wedging	HP:0040283	ORPHA:485
1280	COL2A1	HP:0008422	Vertebral wedging	2/3	OMIM:616583
1280	COL2A1	HP:0008422	Vertebral wedging	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0003621	Juvenile onset	1/3	OMIM:616583
1280	COL2A1	HP:0003621	Juvenile onset	8/19	OMIM:180100
1280	COL2A1	HP:0003621	Juvenile onset	-	OMIM:604864
1280	COL2A1	HP:0003621	Juvenile onset	-	OMIM:131300
1280	COL2A1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1280	COL2A1	HP:0004209	Clinodactyly of the 5th finger	2/9	OMIM:154780
1280	COL2A1	HP:0004279	Short palm	HP:0040281	ORPHA:85166
1280	COL2A1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1280	COL2A1	HP:0004227	Short distal phalanx of the 5th finger	1/1	OMIM:271700
1280	COL2A1	HP:6001056	Out-toeing	-	OMIM:131300
1280	COL2A1	HP:0000651	Diplopia	-	OMIM:131300
1280	COL2A1	HP:0000648	Optic atrophy	-	OMIM:143200
1280	COL2A1	HP:0000618	Blindness	-	OMIM:108300
1280	COL2A1	HP:0001956	Truncal obesity	2/7	OMIM:615777
1280	COL2A1	HP:0004180	Short distal phalanx of the 3rd finger	1/1	OMIM:271700
1280	COL2A1	HP:0001903	Anemia	HP:0040283	OMIM:131300
1280	COL2A1	HP:0010049	Short metacarpal	1/1	OMIM:271700
1280	COL2A1	HP:0010049	Short metacarpal	2/5	OMIM:609162
1280	COL2A1	HP:0010049	Short metacarpal	-	OMIM:615777
1280	COL2A1	HP:0010055	Broad hallux	HP:0040283	ORPHA:1856
1280	COL2A1	HP:0030490	Exudative vitreoretinopathy	HP:0040283	OMIM:143200
1280	COL2A1	HP:0000678	Dental crowding	-	OMIM:615777
1280	COL2A1	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:154780
1280	COL2A1	HP:0000662	Nyctalopia	26/28	OMIM:180100
1280	COL2A1	HP:0000670	Carious teeth	-	OMIM:131300
1280	COL2A1	HP:0000670	Carious teeth	HP:0040283	ORPHA:93346
1280	COL2A1	HP:0011304	Broad thumb	-	OMIM:271700
1280	COL2A1	HP:0011304	Broad thumb	2/7	OMIM:615777
1280	COL2A1	HP:0000668	Hypodontia	-	OMIM:615777
1280	COL2A1	HP:0000664	Synophrys	-	OMIM:615777
1280	COL2A1	HP:0004322	Short stature	2/3	OMIM:616583
1280	COL2A1	HP:0004322	Short stature	0/2	OMIM:619248
1280	COL2A1	HP:0004322	Short stature	HP:0040281	ORPHA:2380
1280	COL2A1	HP:0004322	Short stature	HP:0040282	ORPHA:93296
1280	COL2A1	HP:0004322	Short stature	-	OMIM:604864
1280	COL2A1	HP:0004322	Short stature	8/9	OMIM:184255
1280	COL2A1	HP:0004322	Short stature	HP:0040281	ORPHA:93315
1280	COL2A1	HP:0004322	Short stature	-	OMIM:132450
1280	COL2A1	HP:0004322	Short stature	-	OMIM:154780
1280	COL2A1	HP:0004322	Short stature	-	OMIM:150600
1280	COL2A1	HP:0004322	Short stature	HP:0040281	ORPHA:85198
1280	COL2A1	HP:0004322	Short stature	1/1	OMIM:271700
1280	COL2A1	HP:0004327	Abnormal vitreous humor morphology	HP:0040281	ORPHA:90653
1280	COL2A1	HP:0004327	Abnormal vitreous humor morphology	HP:0040283	ORPHA:93296
1280	COL2A1	HP:0005622	Broad long bones	-	OMIM:200610
1280	COL2A1	HP:0030663	Optically empty vitreous	-	OMIM:609508
1280	COL2A1	HP:0030663	Optically empty vitreous	-	OMIM:143200
1280	COL2A1	HP:0005619	Thoracolumbar kyphosis	1/2	OMIM:151210
1280	COL2A1	HP:0030672	Asteroid hyalosis	-	OMIM:132450
1280	COL2A1	HP:0003071	Flattened epiphysis	-	OMIM:183900
1280	COL2A1	HP:0003071	Flattened epiphysis	HP:0040282	ORPHA:1856
1280	COL2A1	HP:0003088	Premature osteoarthritis	-	OMIM:184840
1280	COL2A1	HP:0003051	Enlarged metaphyses	HP:0040282	ORPHA:485
1280	COL2A1	HP:0004396	Poor appetite	-	OMIM:131300
1280	COL2A1	HP:0003037	Enlarged joints	HP:0040281	ORPHA:485
1280	COL2A1	HP:0003037	Enlarged joints	-	OMIM:156550
1280	COL2A1	HP:0003037	Enlarged joints	HP:0040281	ORPHA:85198
1280	COL2A1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1280	COL2A1	HP:0003031	Ulnar bowing	-	OMIM:154780
1280	COL2A1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1280	COL2A1	HP:0003040	Arthropathy	HP:0040282	ORPHA:485
1280	COL2A1	HP:0003040	Arthropathy	3/3	OMIM:108300
1280	COL2A1	HP:0034198	Second trimester onset	1/1	OMIM:200610
1280	COL2A1	HP:0003015	Flared metaphysis	HP:0040281	ORPHA:93346
1280	COL2A1	HP:0003015	Flared metaphysis	-	OMIM:156550
1280	COL2A1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1280	COL2A1	HP:0003016	Metaphyseal widening	HP:0040282	ORPHA:485
1280	COL2A1	HP:0003026	Short long bone	HP:0040282	ORPHA:93315
1280	COL2A1	HP:0003026	Short long bone	HP:0040283	ORPHA:93316
1280	COL2A1	HP:0003026	Short long bone	7/7	OMIM:615777
1280	COL2A1	HP:0003026	Short long bone	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0003026	Short long bone	-	OMIM:184253
1280	COL2A1	HP:0003026	Short long bone	2/2	OMIM:151210
1280	COL2A1	HP:0003026	Short long bone	HP:0040282	ORPHA:93346
1280	COL2A1	HP:0003026	Short long bone	HP:0040281	ORPHA:93296
1280	COL2A1	HP:0003026	Short long bone	HP:0040282	ORPHA:485
1280	COL2A1	HP:0003026	Short long bone	1/1	OMIM:200610
1280	COL2A1	HP:0003025	Metaphyseal irregularity	8/8	OMIM:184255
1280	COL2A1	HP:0003025	Metaphyseal irregularity	2/2	OMIM:151210
1280	COL2A1	HP:0003025	Metaphyseal irregularity	-	OMIM:184250
1280	COL2A1	HP:0003025	Metaphyseal irregularity	HP:0040281	ORPHA:93315
1280	COL2A1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1280	COL2A1	HP:0003022	Hypoplasia of the ulna	-	OMIM:271700
1280	COL2A1	HP:0003022	Hypoplasia of the ulna	HP:0040282	ORPHA:1856
1280	COL2A1	HP:0003021	Metaphyseal cupping	-	OMIM:151210
1280	COL2A1	HP:0003021	Metaphyseal cupping	HP:0040281	ORPHA:85166
1280	COL2A1	HP:0003019	Abnormality of the wrist	HP:0040283	ORPHA:93316
1280	COL2A1	HP:0004349	Reduced bone mineral density	HP:0040284	ORPHA:93315
1280	COL2A1	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0000767	Pectus excavatum	1/1	OMIM:156550
1280	COL2A1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:166100
1280	COL2A1	HP:0000767	Pectus excavatum	-	OMIM:108300
1280	COL2A1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1280	COL2A1	HP:0000768	Pectus carinatum	-	OMIM:271700
1280	COL2A1	HP:0000768	Pectus carinatum	4/8	OMIM:184255
1280	COL2A1	HP:0000768	Pectus carinatum	2/2	OMIM:184250
1280	COL2A1	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:93315
1280	COL2A1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1280	COL2A1	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:166100
1280	COL2A1	HP:0000768	Pectus carinatum	-	OMIM:183900
1280	COL2A1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1280	COL2A1	HP:0000750	Delayed speech and language development	-	OMIM:615777
1280	COL2A1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93316
1280	COL2A1	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:93316
1280	COL2A1	HP:0012785	Flexion contracture of finger	HP:0040281	ORPHA:485
1280	COL2A1	HP:0011463	Childhood onset	2/3	OMIM:616583
1280	COL2A1	HP:0011463	Childhood onset	3/19	OMIM:180100
1280	COL2A1	HP:0011462	Young adult onset	8/19	OMIM:180100
1280	COL2A1	HP:0011462	Young adult onset	-	OMIM:604864
1280	COL2A1	HP:0011461	Fetal onset	7/7	OMIM:615777
1280	COL2A1	HP:0000774	Narrow chest	-	OMIM:151210
1280	COL2A1	HP:0000774	Narrow chest	HP:0040282	ORPHA:93296
1280	COL2A1	HP:0000774	Narrow chest	2/7	OMIM:615777
1280	COL2A1	HP:0000774	Narrow chest	HP:0040281	ORPHA:85166
1280	COL2A1	HP:0000773	Short ribs	-	OMIM:151210
1280	COL2A1	HP:0000773	Short ribs	HP:0040282	ORPHA:93296
1280	COL2A1	HP:0000773	Short ribs	-	OMIM:200610
1280	COL2A1	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040284	ORPHA:93315
1280	COL2A1	HP:0005743	Avascular necrosis of the capital femoral epiphysis	11/11	OMIM:608805
1280	COL2A1	HP:0005743	Avascular necrosis of the capital femoral epiphysis	-	OMIM:150600
1280	COL2A1	HP:0005701	Multiple enchondromatosis	HP:0040281	ORPHA:85198
1280	COL2A1	HP:0005716	Lethal skeletal dysplasia	-	OMIM:151210
1280	COL2A1	HP:0003196	Short nose	HP:0040281	ORPHA:90653
1280	COL2A1	HP:0003196	Short nose	9/9	OMIM:154780
1280	COL2A1	HP:0000925	Abnormality of the vertebral column	HP:0040281	ORPHA:93316
1280	COL2A1	HP:0000926	Platyspondyly	-	OMIM:271700
1280	COL2A1	HP:0000926	Platyspondyly	1/9	OMIM:154780
1280	COL2A1	HP:0000926	Platyspondyly	3/3	OMIM:616583
1280	COL2A1	HP:0000926	Platyspondyly	-	OMIM:184840
1280	COL2A1	HP:0000926	Platyspondyly	HP:0040282	ORPHA:90653
1280	COL2A1	HP:0000926	Platyspondyly	HP:0040282	ORPHA:85198
1280	COL2A1	HP:0000926	Platyspondyly	HP:0040283	ORPHA:1856
1280	COL2A1	HP:0000926	Platyspondyly	-	OMIM:184253
1280	COL2A1	HP:0000926	Platyspondyly	-	OMIM:184250
1280	COL2A1	HP:0000926	Platyspondyly	-	OMIM:108300
1280	COL2A1	HP:0000926	Platyspondyly	HP:0040282	ORPHA:485
1280	COL2A1	HP:0000926	Platyspondyly	10/10	OMIM:604864
1280	COL2A1	HP:0000926	Platyspondyly	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0000926	Platyspondyly	HP:0040282	ORPHA:93316
1280	COL2A1	HP:0000926	Platyspondyly	5/5	OMIM:609162
1280	COL2A1	HP:0000926	Platyspondyly	1/7	OMIM:615777
1280	COL2A1	HP:0000926	Platyspondyly	HP:0040282	ORPHA:94068
1280	COL2A1	HP:0000926	Platyspondyly	1/1	OMIM:156550
1280	COL2A1	HP:0000926	Platyspondyly	-	OMIM:183900
1280	COL2A1	HP:0000926	Platyspondyly	HP:0040283	ORPHA:93346
1280	COL2A1	HP:0000926	Platyspondyly	HP:0040281	ORPHA:85166
1280	COL2A1	HP:0003175	Hypoplastic ischia	-	OMIM:151210
1280	COL2A1	HP:0003173	Hypoplastic pubic bone	-	OMIM:151210
1280	COL2A1	HP:0003173	Hypoplastic pubic bone	-	OMIM:184250
1280	COL2A1	HP:0003173	Hypoplastic pubic bone	HP:0040282	ORPHA:93346
1280	COL2A1	HP:0003185	Short greater sciatic notch	-	OMIM:184253
1280	COL2A1	HP:0003180	Flat acetabular roof	1/1	OMIM:271700
1280	COL2A1	HP:0003180	Flat acetabular roof	-	OMIM:151210
1280	COL2A1	HP:0003180	Flat acetabular roof	-	OMIM:615777
1280	COL2A1	HP:0003180	Flat acetabular roof	HP:0040282	ORPHA:94068
1280	COL2A1	HP:0000907	Anterior rib cupping	-	OMIM:184253
1280	COL2A1	HP:0000907	Anterior rib cupping	-	OMIM:184250
1280	COL2A1	HP:0004482	Relative macrocephaly	-	OMIM:615777
1280	COL2A1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1280	COL2A1	HP:0000882	Hypoplastic scapulae	HP:0040282	ORPHA:85166
1280	COL2A1	HP:0011530	Retinal hole	17/25	OMIM:108300
1280	COL2A1	HP:0000888	Horizontal ribs	-	OMIM:200610
1280	COL2A1	HP:0000883	Thin ribs	-	OMIM:151210
1280	COL2A1	HP:0003097	Short femur	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0003090	Hypoplasia of the capital femoral epiphysis	HP:0040281	ORPHA:85166
1280	COL2A1	HP:0000823	Delayed puberty	-	OMIM:131300
1280	COL2A1	HP:0009290	Short distal phalanx of the 4th finger	1/1	OMIM:271700
1280	COL2A1	HP:0040025	Clinodactyly of the 4th finger	2/9	OMIM:154780
1280	COL2A1	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	-	OMIM:271700
1280	COL2A1	HP:0000894	Short clavicles	-	OMIM:615777
1280	COL2A1	HP:0004565	Severe platyspondyly	-	OMIM:151210
1280	COL2A1	HP:0004557	Anterior vertebral fusion	HP:0040283	ORPHA:485
1280	COL2A1	HP:0004568	Beaking of vertebral bodies	-	OMIM:616583
1280	COL2A1	HP:0004568	Beaking of vertebral bodies	-	OMIM:108300
1280	COL2A1	HP:0004568	Beaking of vertebral bodies	10/10	OMIM:604864
1280	COL2A1	HP:0005868	Metaphyseal enchondromatosis	HP:0040282	ORPHA:85198
1280	COL2A1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1280	COL2A1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:2380
1280	COL2A1	HP:0005863	Type E brachydactyly	HP:0040282	ORPHA:1856
1280	COL2A1	HP:0045060	Aplasia/hypoplasia involving bones of the extremities	HP:0040281	ORPHA:94068
1280	COL2A1	HP:0045060	Aplasia/hypoplasia involving bones of the extremities	HP:0040281	ORPHA:93346
1280	COL2A1	HP:0045060	Aplasia/hypoplasia involving bones of the extremities	HP:0040282	ORPHA:1856
1280	COL2A1	HP:0003273	Hip contracture	-	OMIM:156550
1280	COL2A1	HP:0003270	Abdominal distention	HP:0040281	ORPHA:85166
1280	COL2A1	HP:0004586	Biconcave vertebral bodies	HP:0040283	ORPHA:93315
1280	COL2A1	HP:6000015	Tympanic membrane hypermobility	HP:0040282	ORPHA:90653
1280	COL2A1	HP:0030839	Knee pain	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0030838	Hip pain	1/1	OMIM:608805
1280	COL2A1	HP:0030838	Hip pain	HP:0040282	ORPHA:86820
1280	COL2A1	HP:0030838	Hip pain	HP:0040282	ORPHA:94068
1280	COL2A1	HP:0004591	Disc-like vertebral bodies	-	OMIM:151210
1280	COL2A1	HP:0100250	Meningeal calcification	-	OMIM:154780
1280	COL2A1	HP:0100255	Metaphyseal dysplasia	-	OMIM:184253
1280	COL2A1	HP:0100255	Metaphyseal dysplasia	HP:0040281	ORPHA:93316
1280	COL2A1	HP:0010306	Short thorax	HP:0040281	ORPHA:85166
1280	COL2A1	HP:0010306	Short thorax	HP:0040282	ORPHA:485
1280	COL2A1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1280	COL2A1	HP:0000969	Edema	HP:0040282	ORPHA:93296
1280	COL2A1	HP:0000969	Edema	-	OMIM:200610
1280	COL2A1	HP:0000939	Osteoporosis	HP:0040282	ORPHA:94068
1280	COL2A1	HP:0034372	Internal tibial torsion	1/3	OMIM:616583
1280	COL2A1	HP:0000947	Dumbbell-shaped long bone	HP:0040282	ORPHA:485
1280	COL2A1	HP:0000947	Dumbbell-shaped long bone	-	OMIM:156550
1280	COL2A1	HP:0000947	Dumbbell-shaped long bone	1/2	OMIM:151210
1280	COL2A1	HP:0000946	Hypoplastic ilia	-	OMIM:154780
1280	COL2A1	HP:0000946	Hypoplastic ilia	2/2	OMIM:151210
1280	COL2A1	HP:0000946	Hypoplastic ilia	1/3	OMIM:616583
1280	COL2A1	HP:0000946	Hypoplastic ilia	HP:0040282	ORPHA:93296
1280	COL2A1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:93316
1280	COL2A1	HP:0040160	Generalized osteoporosis	1/1	OMIM:608805
1280	COL2A1	HP:0008063	Aplasia/Hypoplasia of the lens	HP:0040282	ORPHA:485
1280	COL2A1	HP:0040194	Increased head circumference	HP:0040282	ORPHA:94068
1280	COL2A1	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:143200
1280	COL2A1	HP:0012283	Small distal femoral epiphysis	-	OMIM:154780
1280	COL2A1	HP:0012284	Small proximal tibial epiphyses	-	OMIM:154780
1280	COL2A1	HP:0000286	Epicanthus	-	OMIM:154780
1280	COL2A1	HP:0000286	Epicanthus	1/7	OMIM:615777
1280	COL2A1	HP:0000280	Coarse facial features	-	OMIM:151210
1280	COL2A1	HP:0000280	Coarse facial features	2/7	OMIM:615777
1280	COL2A1	HP:0000280	Coarse facial features	HP:0040282	ORPHA:94068
1280	COL2A1	HP:0000280	Coarse facial features	HP:0040282	ORPHA:93346
1280	COL2A1	HP:0001591	Bell-shaped thorax	HP:0040281	ORPHA:485
1280	COL2A1	HP:0000256	Macrocephaly	HP:0040284	ORPHA:485
1280	COL2A1	HP:0000256	Macrocephaly	-	OMIM:151210
1280	COL2A1	HP:0000272	Malar flattening	-	OMIM:271700
1280	COL2A1	HP:0000272	Malar flattening	-	OMIM:154780
1280	COL2A1	HP:0000272	Malar flattening	27/28	OMIM:184840
1280	COL2A1	HP:0000272	Malar flattening	-	OMIM:108300
1280	COL2A1	HP:0000272	Malar flattening	1/1	OMIM:156550
1280	COL2A1	HP:0000272	Malar flattening	HP:0040281	ORPHA:166100
1280	COL2A1	HP:0000272	Malar flattening	-	OMIM:183900
1280	COL2A1	HP:0000272	Malar flattening	HP:0040282	ORPHA:85166
1280	COL2A1	HP:0006454	Delayed patellar ossification	HP:0040283	ORPHA:485
1280	COL2A1	HP:0006456	Irregular proximal tibial epiphyses	-	OMIM:154780
1280	COL2A1	HP:0007773	Vitreoretinopathy	HP:0040281	ORPHA:485
1280	COL2A1	HP:0007773	Vitreoretinopathy	-	OMIM:154780
1280	COL2A1	HP:0007773	Vitreoretinopathy	-	OMIM:183900
1280	COL2A1	HP:0007773	Vitreoretinopathy	-	OMIM:143200
1280	COL2A1	HP:0007773	Vitreoretinopathy	25/25	OMIM:108300
1280	COL2A1	HP:0006434	Hypoplasia of proximal radius	-	OMIM:184253
1280	COL2A1	HP:0005106	Abnormality of the vertebral endplates	HP:0040282	ORPHA:1856
1280	COL2A1	HP:0006406	Club-shaped proximal femur	-	OMIM:184250
1280	COL2A1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
1280	COL2A1	HP:0006407	Irregular distal femoral epiphysis	-	OMIM:154780
1280	COL2A1	HP:0002815	Abnormality of the knee	HP:0040282	ORPHA:93316
1280	COL2A1	HP:0002812	Coxa vara	3/9	OMIM:184255
1280	COL2A1	HP:0002812	Coxa vara	-	OMIM:184253
1280	COL2A1	HP:0002812	Coxa vara	1/2	OMIM:184250
1280	COL2A1	HP:0002812	Coxa vara	HP:0040281	ORPHA:93315
1280	COL2A1	HP:0002812	Coxa vara	HP:0040282	ORPHA:93316
1280	COL2A1	HP:0002812	Coxa vara	-	OMIM:609162
1280	COL2A1	HP:0002812	Coxa vara	-	OMIM:156550
1280	COL2A1	HP:0002812	Coxa vara	-	OMIM:183900
1280	COL2A1	HP:0002829	Arthralgia	3/3	OMIM:616583
1280	COL2A1	HP:0002829	Arthralgia	20/20	OMIM:184840
1280	COL2A1	HP:0002829	Arthralgia	HP:0040281	ORPHA:2380
1280	COL2A1	HP:0002829	Arthralgia	HP:0040282	ORPHA:90653
1280	COL2A1	HP:0002829	Arthralgia	3/3	OMIM:108300
1280	COL2A1	HP:0002829	Arthralgia	10/10	OMIM:604864
1280	COL2A1	HP:0002829	Arthralgia	5/5	OMIM:609162
1280	COL2A1	HP:0002829	Arthralgia	HP:0040281	ORPHA:166100
1280	COL2A1	HP:0002829	Arthralgia	82/93	OMIM:183900
1280	COL2A1	HP:0002827	Hip dislocation	3/7	OMIM:615777
1280	COL2A1	HP:0002827	Hip dislocation	-	OMIM:156550
1280	COL2A1	HP:0002827	Hip dislocation	-	OMIM:183900
1280	COL2A1	HP:0030084	Clinodactyly	1/2	OMIM:184250
1280	COL2A1	HP:0030084	Clinodactyly	HP:0040284	ORPHA:93315
1280	COL2A1	HP:0005086	Knee osteoarthritis	-	OMIM:154780
1280	COL2A1	HP:0005086	Knee osteoarthritis	10/10	OMIM:604864
1280	COL2A1	HP:0002808	Kyphosis	HP:0040282	ORPHA:94068
1280	COL2A1	HP:0002808	Kyphosis	-	OMIM:183900
1280	COL2A1	HP:0002808	Kyphosis	-	OMIM:271700
1280	COL2A1	HP:0002808	Kyphosis	-	OMIM:108300
1280	COL2A1	HP:0005068	Absent styloid process of ulna	-	OMIM:271700
1280	COL2A1	HP:0006385	Short lower limbs	HP:0040282	ORPHA:93315
1280	COL2A1	HP:0006375	Dumbbell-shaped femur	HP:0040283	ORPHA:485
1280	COL2A1	HP:0006375	Dumbbell-shaped femur	1/1	OMIM:156550
1280	COL2A1	HP:0006361	Irregular femoral epiphysis	-	OMIM:154780
1280	COL2A1	HP:0006361	Irregular femoral epiphysis	-	OMIM:108300
1280	COL2A1	HP:0012230	Rhegmatogenous retinal detachment	HP:0040282	ORPHA:485
1280	COL2A1	HP:0012230	Rhegmatogenous retinal detachment	26/38	OMIM:609508
1280	COL2A1	HP:0012230	Rhegmatogenous retinal detachment	-	OMIM:619248
1280	COL2A1	HP:0000252	Microcephaly	-	OMIM:615777
1280	COL2A1	HP:0012221	Pretibial blistering	HP:0040281	ORPHA:85198
1280	COL2A1	HP:0000248	Brachycephaly	1/1	OMIM:200610
1280	COL2A1	HP:0001552	Barrel-shaped chest	-	OMIM:271700
1280	COL2A1	HP:0001552	Barrel-shaped chest	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0001552	Barrel-shaped chest	-	OMIM:200610
1280	COL2A1	HP:0001552	Barrel-shaped chest	-	OMIM:183900
1280	COL2A1	HP:0002879	Anisospondyly	HP:0040282	ORPHA:85198
1280	COL2A1	HP:0000218	High palate	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0000215	Thick upper lip vermilion	-	OMIM:154780
1280	COL2A1	HP:0001561	Polyhydramnios	1/2	OMIM:151210
1280	COL2A1	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:93316
1280	COL2A1	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:85166
1280	COL2A1	HP:0001561	Polyhydramnios	-	OMIM:200610
1280	COL2A1	HP:0002857	Genu valgum	-	OMIM:131300
1280	COL2A1	HP:0002857	Genu valgum	HP:0040282	ORPHA:85198
1280	COL2A1	HP:0002857	Genu valgum	-	OMIM:184253
1280	COL2A1	HP:0002857	Genu valgum	-	OMIM:184250
1280	COL2A1	HP:0002857	Genu valgum	-	OMIM:132450
1280	COL2A1	HP:0002857	Genu valgum	HP:0040282	ORPHA:93315
1280	COL2A1	HP:0002857	Genu valgum	HP:0040282	ORPHA:93316
1280	COL2A1	HP:0002857	Genu valgum	HP:0040282	ORPHA:94068
1280	COL2A1	HP:0000211	Trismus	HP:0040283	OMIM:616583
1280	COL2A1	HP:0001537	Umbilical hernia	-	OMIM:156550
1280	COL2A1	HP:0002867	Abnormal ilium morphology	HP:0040282	ORPHA:93316
1280	COL2A1	HP:0002868	Narrow iliac wing	-	OMIM:609162
1280	COL2A1	HP:0001538	Protuberant abdomen	1/2	OMIM:151210
1280	COL2A1	HP:0001538	Protuberant abdomen	-	OMIM:184250
1280	COL2A1	HP:0001538	Protuberant abdomen	1/1	OMIM:200610
1280	COL2A1	HP:0001533	Slender build	-	OMIM:131300
1280	COL2A1	HP:0002866	Hypoplastic iliac wing	HP:0040284	ORPHA:93315
1280	COL2A1	HP:0002866	Hypoplastic iliac wing	-	OMIM:200610
1280	COL2A1	HP:0000201	Pierre-Robin sequence	2/25	OMIM:108300
1280	COL2A1	HP:0000201	Pierre-Robin sequence	4/9	OMIM:154780
1280	COL2A1	HP:0000201	Pierre-Robin sequence	HP:0040282	ORPHA:93296
1280	COL2A1	HP:0000201	Pierre-Robin sequence	HP:0040283	ORPHA:485
1280	COL2A1	HP:0000201	Pierre-Robin sequence	-	OMIM:184840
1280	COL2A1	HP:0000201	Pierre-Robin sequence	13/93	OMIM:183900
1280	COL2A1	HP:0001507	Growth abnormality	-	OMIM:609162
1280	COL2A1	HP:0030041	Schmorl's node	-	OMIM:604864
1280	COL2A1	HP:0002834	Flared femoral metaphysis	-	OMIM:184253
1280	COL2A1	HP:0001519	Disproportionate tall stature	-	OMIM:108300
1280	COL2A1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1280	COL2A1	HP:0001510	Growth delay	HP:0040281	ORPHA:94068
1280	COL2A1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
1280	COL2A1	HP:0007807	Optic nerve compression	-	OMIM:131300
1280	COL2A1	HP:0000385	Small earlobe	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0031520	Groin pain	1/1	OMIM:608805
1280	COL2A1	HP:0031520	Groin pain	HP:0040281	ORPHA:86820
1280	COL2A1	HP:0012368	Flat face	-	OMIM:132450
1280	COL2A1	HP:0012368	Flat face	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0012368	Flat face	7/7	OMIM:615777
1280	COL2A1	HP:0012368	Flat face	HP:0040282	ORPHA:94068
1280	COL2A1	HP:0012368	Flat face	-	OMIM:183900
1280	COL2A1	HP:0012368	Flat face	1/2	OMIM:151210
1280	COL2A1	HP:0012368	Flat face	HP:0040282	ORPHA:93346
1280	COL2A1	HP:0005257	Thoracic hypoplasia	2/2	OMIM:151210
1280	COL2A1	HP:0006543	Cardiorespiratory arrest	HP:0040283	ORPHA:93296
1280	COL2A1	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1280	COL2A1	HP:0002938	Lumbar hyperlordosis	HP:0040281	ORPHA:94068
1280	COL2A1	HP:0002938	Lumbar hyperlordosis	-	OMIM:183900
1280	COL2A1	HP:0002938	Lumbar hyperlordosis	-	OMIM:184253
1280	COL2A1	HP:0002948	Vertebral fusion	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0002949	Fused cervical vertebrae	HP:0040283	ORPHA:485
1280	COL2A1	HP:0002945	Intervertebral space narrowing	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0002945	Intervertebral space narrowing	-	OMIM:609162
1280	COL2A1	HP:0002942	Thoracic kyphosis	-	OMIM:609162
1280	COL2A1	HP:0005193	Restricted large joint movement	HP:0040283	ORPHA:93346
1280	COL2A1	HP:0006499	Abnormal femoral epiphysis morphology	-	OMIM:108300
1280	COL2A1	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:85166
1280	COL2A1	HP:0031427	Abnormal circulating osteocalcin level	HP:0040284	ORPHA:93315
1280	COL2A1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:1856
1280	COL2A1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:93296
1280	COL2A1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:485
1280	COL2A1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0000365	Hearing impairment	32/87	OMIM:183900
1280	COL2A1	HP:0000365	Hearing impairment	10/67	OMIM:131300
1280	COL2A1	HP:0000365	Hearing impairment	4/28	OMIM:609508
1280	COL2A1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:93346
1280	COL2A1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0011003	High myopia	1/1	OMIM:271700
1280	COL2A1	HP:0011003	High myopia	HP:0040281	ORPHA:485
1280	COL2A1	HP:0000369	Low-set ears	-	OMIM:154780
1280	COL2A1	HP:0000369	Low-set ears	1/2	OMIM:151210
1280	COL2A1	HP:0000369	Low-set ears	HP:0040282	ORPHA:85166
1280	COL2A1	HP:0000343	Long philtrum	HP:0040281	ORPHA:90653
1280	COL2A1	HP:0000343	Long philtrum	HP:0040281	ORPHA:166100
1280	COL2A1	HP:0000343	Long philtrum	-	OMIM:154780
1280	COL2A1	HP:0000343	Long philtrum	1/7	OMIM:615777
1280	COL2A1	HP:0000343	Long philtrum	1/1	OMIM:200610
1280	COL2A1	HP:0011001	Increased bone mineral density	-	OMIM:131300
1280	COL2A1	HP:0000339	Pugilistic facies	-	OMIM:271700
1280	COL2A1	HP:0002996	Limited elbow movement	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0002996	Limited elbow movement	-	OMIM:183900
1280	COL2A1	HP:0012313	Heberden node	10/10	OMIM:604864
1280	COL2A1	HP:0000347	Micrognathia	-	OMIM:154780
1280	COL2A1	HP:0000347	Micrognathia	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0000347	Micrognathia	HP:0040282	ORPHA:166100
1280	COL2A1	HP:0000347	Micrognathia	15/25	OMIM:108300
1280	COL2A1	HP:0000347	Micrognathia	HP:0040283	ORPHA:93316
1280	COL2A1	HP:0000347	Micrognathia	HP:0040282	ORPHA:93346
1280	COL2A1	HP:0002982	Tibial bowing	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0002982	Tibial bowing	1/1	OMIM:156550
1280	COL2A1	HP:0002983	Micromelia	1/2	OMIM:151210
1280	COL2A1	HP:0002983	Micromelia	HP:0040281	ORPHA:85166
1280	COL2A1	HP:0002983	Micromelia	HP:0040282	ORPHA:93296
1280	COL2A1	HP:0000316	Hypertelorism	-	OMIM:154780
1280	COL2A1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:93346
1280	COL2A1	HP:0000311	Round face	-	OMIM:132450
1280	COL2A1	HP:0000311	Round face	2/7	OMIM:615777
1280	COL2A1	HP:0000311	Round face	-	OMIM:156550
1280	COL2A1	HP:0000311	Round face	HP:0040281	ORPHA:485
1280	COL2A1	HP:0002991	Abnormal fibula morphology	HP:0040282	ORPHA:85198
1280	COL2A1	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:90653
1280	COL2A1	HP:0002986	Radial bowing	-	OMIM:154780
1280	COL2A1	HP:0002986	Radial bowing	1/2	OMIM:151210
1280	COL2A1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0002970	Genu varum	4/8	OMIM:184255
1280	COL2A1	HP:0002970	Genu varum	HP:0040282	ORPHA:93315
1280	COL2A1	HP:0002970	Genu varum	HP:0040282	ORPHA:85166
1280	COL2A1	HP:0002970	Genu varum	-	OMIM:615777
1280	COL2A1	HP:0002970	Genu varum	1/1	OMIM:156550
1280	COL2A1	HP:0000308	Microretrognathia	1/1	OMIM:200610
1280	COL2A1	HP:0000307	Pointed chin	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0000303	Mandibular prognathia	-	OMIM:131300
1280	COL2A1	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:90653
1280	COL2A1	HP:0001634	Mitral valve prolapse	1/25	OMIM:108300
1280	COL2A1	HP:0007964	Degenerative vitreoretinopathy	HP:0040281	ORPHA:485
1280	COL2A1	HP:0007906	Ocular hypertension	HP:0040284	ORPHA:93315
1280	COL2A1	HP:0030329	Retinal thinning	-	OMIM:132450
1280	COL2A1	HP:0004039	Abnormal ulnar metaphysis morphology	HP:0040282	ORPHA:85198
1280	COL2A1	HP:0007992	Lattice retinal degeneration	HP:0040282	ORPHA:485
1280	COL2A1	HP:0007992	Lattice retinal degeneration	-	OMIM:619248
1280	COL2A1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:90653
1280	COL2A1	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:154780
1280	COL2A1	HP:0000407	Sensorineural hearing impairment	16/28	OMIM:184840
1280	COL2A1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:166100
1280	COL2A1	HP:0000407	Sensorineural hearing impairment	-	OMIM:271700
1280	COL2A1	HP:0000407	Sensorineural hearing impairment	19/25	OMIM:108300
1280	COL2A1	HP:0000403	Recurrent otitis media	4/9	OMIM:154780
1280	COL2A1	HP:0000403	Recurrent otitis media	-	OMIM:156550
1280	COL2A1	HP:0000405	Conductive hearing impairment	HP:0040283	OMIM:108300
1280	COL2A1	HP:0000405	Conductive hearing impairment	-	OMIM:132450
1280	COL2A1	HP:0000405	Conductive hearing impairment	-	OMIM:156550
1280	COL2A1	HP:0000402	Stenosis of the external auditory canal	HP:0040283	ORPHA:93316
1280	COL2A1	HP:0005280	Depressed nasal bridge	27/28	OMIM:184840
1280	COL2A1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:485
1280	COL2A1	HP:0005280	Depressed nasal bridge	-	OMIM:156550
1280	COL2A1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:85166
1280	COL2A1	HP:0005280	Depressed nasal bridge	1/1	OMIM:271700
1280	COL2A1	HP:0005280	Depressed nasal bridge	9/9	OMIM:154780
1280	COL2A1	HP:0005280	Depressed nasal bridge	1/2	OMIM:151210
1280	COL2A1	HP:0005280	Depressed nasal bridge	-	OMIM:108300
1280	COL2A1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1280	COL2A1	HP:0000486	Strabismus	HP:0040284	ORPHA:93315
1280	COL2A1	HP:0000476	Cystic hygroma	-	OMIM:200610
1280	COL2A1	HP:0000478	Abnormality of the eye	0/3	OMIM:184840
1280	COL2A1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:93296
1280	COL2A1	HP:0000463	Anteverted nares	27/28	OMIM:184840
1280	COL2A1	HP:0000463	Anteverted nares	-	OMIM:154780
1280	COL2A1	HP:0000463	Anteverted nares	-	OMIM:108300
1280	COL2A1	HP:0001789	Hydrops fetalis	HP:0040282	ORPHA:85166
1280	COL2A1	HP:0001789	Hydrops fetalis	-	OMIM:200610
1280	COL2A1	HP:0000470	Short neck	HP:0040283	ORPHA:485
1280	COL2A1	HP:0000470	Short neck	HP:0040282	ORPHA:94068
1280	COL2A1	HP:0000470	Short neck	-	OMIM:156550
1280	COL2A1	HP:0000470	Short neck	-	OMIM:183900
1280	COL2A1	HP:0000470	Short neck	1/1	OMIM:271700
1280	COL2A1	HP:0000470	Short neck	-	OMIM:151210
1280	COL2A1	HP:0000470	Short neck	HP:0040284	ORPHA:93315
1280	COL2A1	HP:0000470	Short neck	1/7	OMIM:615777
1280	COL2A1	HP:0001773	Short foot	-	OMIM:271700
1280	COL2A1	HP:0001773	Short foot	HP:0040281	ORPHA:85166
1280	COL2A1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1280	COL2A1	HP:0001763	Pes planus	-	OMIM:184250
1280	COL2A1	HP:0001763	Pes planus	1/7	OMIM:615777
1280	COL2A1	HP:0000411	Protruding ear	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0001760	Abnormal foot morphology	-	OMIM:200610
1280	COL2A1	HP:0001762	Talipes equinovarus	8/93	OMIM:183900
1280	COL2A1	HP:0025708	Early young adult onset	2/2	OMIM:608805
1280	COL2A1	HP:0025707	Hypoplastic fetal nasal bone	-	OMIM:154780
1280	COL2A1	HP:0030292	Tibial metaphyseal irregularity	-	OMIM:184253
1280	COL2A1	HP:0030290	Unossified sacrum	HP:0040282	ORPHA:93296
1280	COL2A1	HP:0030431	Osteochondroma	3/5	OMIM:609162
1280	COL2A1	HP:0005451	Decreased cranial base ossification	-	OMIM:151210
1280	COL2A1	HP:0005462	Calcification of falx cerebri	-	OMIM:154780
1280	COL2A1	HP:0000518	Cataract	HP:0040281	ORPHA:90653
1280	COL2A1	HP:0000518	Cataract	HP:0040283	ORPHA:1856
1280	COL2A1	HP:0000518	Cataract	HP:0040283	ORPHA:485
1280	COL2A1	HP:0000518	Cataract	-	OMIM:132450
1280	COL2A1	HP:0000518	Cataract	-	OMIM:156550
1280	COL2A1	HP:0000518	Cataract	-	OMIM:143200
1280	COL2A1	HP:0000518	Cataract	9/9	OMIM:154780
1280	COL2A1	HP:0000518	Cataract	10/25	OMIM:108300
1280	COL2A1	HP:0000518	Cataract	HP:0040283	ORPHA:93296
1280	COL2A1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
1280	COL2A1	HP:0001840	Metatarsus adductus	-	OMIM:615777
1280	COL2A1	HP:0000520	Proptosis	2/4	OMIM:131300
1280	COL2A1	HP:0000520	Proptosis	HP:0040282	ORPHA:90653
1280	COL2A1	HP:0000520	Proptosis	HP:0040281	ORPHA:485
1280	COL2A1	HP:0000520	Proptosis	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0000520	Proptosis	7/7	OMIM:615777
1280	COL2A1	HP:0000520	Proptosis	-	OMIM:156550
1280	COL2A1	HP:0000505	Visual impairment	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0000501	Glaucoma	-	OMIM:154780
1280	COL2A1	HP:0000501	Glaucoma	2/25	OMIM:108300
1280	COL2A1	HP:0000501	Glaucoma	-	OMIM:143200
1280	COL2A1	HP:0001831	Short toe	1/1	OMIM:271700
1280	COL2A1	HP:0001831	Short toe	5/5	OMIM:609162
1280	COL2A1	HP:0000575	Scotoma	5/18	OMIM:180100
1280	COL2A1	HP:0000592	Blue sclerae	2/7	OMIM:615777
1280	COL2A1	HP:0001891	Iron deficiency anemia	HP:0040284	ORPHA:93315
1280	COL2A1	HP:0011220	Prominent forehead	HP:0040282	ORPHA:85166
1280	COL2A1	HP:0000572	Visual loss	HP:0040283	ORPHA:90653
1280	COL2A1	HP:0000572	Visual loss	-	OMIM:143200
1280	COL2A1	HP:0000565	Esotropia	-	OMIM:154780
1280	COL2A1	HP:0000541	Retinal detachment	-	OMIM:154780
1280	COL2A1	HP:0000541	Retinal detachment	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0000541	Retinal detachment	-	OMIM:156550
1280	COL2A1	HP:0000541	Retinal detachment	HP:0040281	ORPHA:90653
1280	COL2A1	HP:0000541	Retinal detachment	11/93	OMIM:183900
1280	COL2A1	HP:0000541	Retinal detachment	HP:0040283	ORPHA:1856
1280	COL2A1	HP:0000541	Retinal detachment	1/3	OMIM:108300
1280	COL2A1	HP:0000541	Retinal detachment	HP:0040283	ORPHA:93296
1280	COL2A1	HP:0000541	Retinal detachment	HP:0040282	ORPHA:485
1280	COL2A1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1280	COL2A1	HP:0000533	Chorioretinal atrophy	-	OMIM:143200
1280	COL2A1	HP:0001883	Talipes	HP:0040283	ORPHA:1856
1280	COL2A1	HP:0012514	Lower limb pain	4/4	OMIM:131300
1280	COL2A1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
1280	COL2A1	HP:0000545	Myopia	HP:0040281	ORPHA:90653
1280	COL2A1	HP:0000545	Myopia	HP:0040282	ORPHA:1856
1280	COL2A1	HP:0000545	Myopia	-	OMIM:180100
1280	COL2A1	HP:0000545	Myopia	-	OMIM:132450
1280	COL2A1	HP:0000545	Myopia	HP:0040283	ORPHA:94068
1280	COL2A1	HP:0000545	Myopia	1/1	OMIM:156550
1280	COL2A1	HP:0000545	Myopia	42/93	OMIM:183900
1280	COL2A1	HP:0000545	Myopia	-	OMIM:143200
1280	COL2A1	HP:0000545	Myopia	9/9	OMIM:154780
1280	COL2A1	HP:0000545	Myopia	-	OMIM:184253
1280	COL2A1	HP:0000545	Myopia	-	OMIM:184250
1280	COL2A1	HP:0000545	Myopia	28/28	OMIM:108300
1280	COL2A1	HP:0000545	Myopia	HP:0040283	ORPHA:93296
1280	COL2A1	HP:0000545	Myopia	-	OMIM:609508
1280	COL2A1	HP:0000545	Myopia	HP:0040283	ORPHA:93315
1280	COL2A1	HP:0000545	Myopia	HP:0040283	ORPHA:93316
1280	COL2A1	HP:0000545	Myopia	HP:0040282	ORPHA:93346
1281	COL3A1	HP:0009901	Crumpled ear	90/119	OMIM:121050
1281	COL3A1	HP:0001181	Adducted thumb	42/90	OMIM:121050
1281	COL3A1	HP:0001166	Arachnodactyly	104/124	OMIM:121050
1281	COL3A1	HP:0001166	Arachnodactyly	124/197	OMIM:154700
1281	COL3A1	HP:0001166	Arachnodactyly	34/37	OMIM:182212
1281	COL3A1	HP:0001166	Arachnodactyly	6/15	OMIM:208050
1281	COL3A1	HP:0001123	Visual field defect	HP:0040282	ORPHA:231160
1281	COL3A1	HP:0009906	Aplasia/Hypoplasia of the earlobes	HP:0040281	ORPHA:286
1281	COL3A1	HP:0003745	Sporadic	-	OMIM:182212
1281	COL3A1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
1281	COL3A1	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
1281	COL3A1	HP:0001290	Generalized hypotonia	-	OMIM:208050
1281	COL3A1	HP:0001290	Generalized hypotonia	-	OMIM:182212
1281	COL3A1	HP:0100807	Long fingers	-	OMIM:618343
1281	COL3A1	HP:0100817	Renovascular hypertension	HP:0040283	ORPHA:286
1281	COL3A1	HP:0001270	Motor delay	HP:0040284	OMIM:618343
1281	COL3A1	HP:0001270	Motor delay	-	OMIM:121050
1281	COL3A1	HP:0001269	Hemiparesis	HP:0040282	ORPHA:231160
1281	COL3A1	HP:0001250	Seizure	HP:0040284	OMIM:618343
1281	COL3A1	HP:0001250	Seizure	HP:0040282	ORPHA:231160
1281	COL3A1	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
1281	COL3A1	HP:0001252	Hypotonia	26/37	OMIM:182212
1281	COL3A1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2500
1281	COL3A1	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
1281	COL3A1	HP:0001249	Intellectual disability	-	OMIM:182212
1281	COL3A1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:286
1281	COL3A1	HP:0001263	Global developmental delay	-	OMIM:182212
1281	COL3A1	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
1281	COL3A1	HP:0001238	Slender finger	-	OMIM:618343
1281	COL3A1	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
1281	COL3A1	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:286
1281	COL3A1	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:2500
1281	COL3A1	HP:0007392	Excessive wrinkled skin	HP:0040283	ORPHA:286
1281	COL3A1	HP:0007392	Excessive wrinkled skin	HP:0040282	ORPHA:2500
1281	COL3A1	HP:0002539	Cortical dysplasia	1/1	OMIM:618343
1281	COL3A1	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
1281	COL3A1	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
1281	COL3A1	HP:0000098	Tall stature	-	OMIM:154700
1281	COL3A1	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:286
1281	COL3A1	HP:0001377	Limited elbow extension	94/109	OMIM:121050
1281	COL3A1	HP:0001377	Limited elbow extension	29/199	OMIM:154700
1281	COL3A1	HP:0001371	Flexion contracture	-	OMIM:208050
1281	COL3A1	HP:0001371	Flexion contracture	-	OMIM:154700
1281	COL3A1	HP:0001373	Joint dislocation	HP:0040283	ORPHA:286
1281	COL3A1	HP:0025336	Delayed ability to sit	1/1	OMIM:618343
1281	COL3A1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:286
1281	COL3A1	HP:0001382	Joint hypermobility	1/1	OMIM:618343
1281	COL3A1	HP:0001382	Joint hypermobility	1/1	OMIM:130050
1281	COL3A1	HP:0001382	Joint hypermobility	12/14	OMIM:208050
1281	COL3A1	HP:0001382	Joint hypermobility	11/53	OMIM:154700
1281	COL3A1	HP:0001382	Joint hypermobility	31/47	OMIM:182212
1281	COL3A1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:2500
1281	COL3A1	HP:0000047	Hypospadias	HP:0040283	ORPHA:286
1281	COL3A1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:286
1281	COL3A1	HP:0000023	Inguinal hernia	11/11	OMIM:130050
1281	COL3A1	HP:0000023	Inguinal hernia	8/15	OMIM:208050
1281	COL3A1	HP:0000023	Inguinal hernia	19/34	OMIM:182212
1281	COL3A1	HP:0000015	Bladder diverticulum	HP:0040281	ORPHA:286
1281	COL3A1	HP:0001363	Craniosynostosis	18/37	OMIM:182212
1281	COL3A1	HP:0000028	Cryptorchidism	1/1	OMIM:130050
1281	COL3A1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:286
1281	COL3A1	HP:0000028	Cryptorchidism	1/13	OMIM:182212
1281	COL3A1	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
1281	COL3A1	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
1281	COL3A1	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
1281	COL3A1	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
1281	COL3A1	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
1281	COL3A1	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:286
1281	COL3A1	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:2500
1281	COL3A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618343
1281	COL3A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
1281	COL3A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
1281	COL3A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
1281	COL3A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
1281	COL3A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
1281	COL3A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
1281	COL3A1	HP:0002642	Arteriovenous fistulas of celiac and mesenteric vessels	HP:0040282	ORPHA:286
1281	COL3A1	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:2500
1281	COL3A1	HP:0002650	Scoliosis	16/53	OMIM:154700
1281	COL3A1	HP:0002650	Scoliosis	HP:0040282	ORPHA:2500
1281	COL3A1	HP:0002650	Scoliosis	11/15	OMIM:121050
1281	COL3A1	HP:0002650	Scoliosis	3/15	OMIM:208050
1281	COL3A1	HP:0002650	Scoliosis	23/37	OMIM:182212
1281	COL3A1	HP:0001321	Cerebellar hypoplasia	-	OMIM:618343
1281	COL3A1	HP:0002647	Aortic dissection	-	OMIM:618343
1281	COL3A1	HP:0002647	Aortic dissection	1/58	OMIM:154700
1281	COL3A1	HP:0002647	Aortic dissection	HP:0040281	ORPHA:286
1281	COL3A1	HP:0002647	Aortic dissection	HP:0040283	ORPHA:231160
1281	COL3A1	HP:0002619	Varicose veins	-	OMIM:130050
1281	COL3A1	HP:0002619	Varicose veins	1/1	OMIM:618343
1281	COL3A1	HP:0002619	Varicose veins	HP:0040282	ORPHA:286
1281	COL3A1	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
1281	COL3A1	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
1281	COL3A1	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
1281	COL3A1	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:231160
1281	COL3A1	HP:0002617	Vascular dilatation	-	OMIM:618343
1281	COL3A1	HP:0002617	Vascular dilatation	HP:0040281	ORPHA:286
1281	COL3A1	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
1281	COL3A1	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
1281	COL3A1	HP:0002621	Atherosclerosis	HP:0040282	ORPHA:231160
1281	COL3A1	HP:0000189	Narrow palate	-	OMIM:182212
1281	COL3A1	HP:0000189	Narrow palate	-	OMIM:154700
1281	COL3A1	HP:0000193	Bifid uvula	0/14	OMIM:208050
1281	COL3A1	HP:0000190	Abnormal oral frenulum morphology	HP:0040281	ORPHA:286
1281	COL3A1	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
1281	COL3A1	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:286
1281	COL3A1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:286
1281	COL3A1	HP:0012151	Hemothorax	3/4	OMIM:130050
1281	COL3A1	HP:0000168	Abnormality of the gingiva	HP:0040283	ORPHA:286
1281	COL3A1	HP:0000139	Uterine prolapse	-	OMIM:130050
1281	COL3A1	HP:0000139	Uterine prolapse	HP:0040283	ORPHA:286
1281	COL3A1	HP:0002797	Osteolysis	HP:0040283	ORPHA:286
1281	COL3A1	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:286
1281	COL3A1	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
1281	COL3A1	HP:0006323	Premature loss of primary teeth	HP:0040283	ORPHA:286
1281	COL3A1	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
1281	COL3A1	HP:0002705	High, narrow palate	HP:0040283	ORPHA:286
1281	COL3A1	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
1281	COL3A1	HP:0002758	Osteoarthritis	HP:0040283	ORPHA:286
1281	COL3A1	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
1281	COL3A1	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
1281	COL3A1	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
1281	COL3A1	HP:0002036	Hiatus hernia	-	OMIM:208050
1281	COL3A1	HP:0002007	Frontal bossing	-	OMIM:121050
1281	COL3A1	HP:0002007	Frontal bossing	-	OMIM:182212
1281	COL3A1	HP:0003302	Spondylolisthesis	-	OMIM:154700
1281	COL3A1	HP:0100545	Arterial stenosis	HP:0040283	ORPHA:286
1281	COL3A1	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:286
1281	COL3A1	HP:0002097	Emphysema	8/9	OMIM:130050
1281	COL3A1	HP:0002097	Emphysema	HP:0040283	OMIM:154700
1281	COL3A1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:286
1281	COL3A1	HP:0002076	Migraine	HP:0040283	ORPHA:286
1281	COL3A1	HP:0030961	Microspherophakia	2/53	OMIM:154700
1281	COL3A1	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
1281	COL3A1	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
1281	COL3A1	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
1281	COL3A1	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:286
1281	COL3A1	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:2500
1281	COL3A1	HP:0100578	Lipoatrophy	HP:0040281	ORPHA:2500
1281	COL3A1	HP:0010499	Patellar subluxation	12/22	OMIM:121050
1281	COL3A1	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
1281	COL3A1	HP:0002140	Ischemic stroke	-	OMIM:208050
1281	COL3A1	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:231160
1281	COL3A1	HP:0002119	Ventriculomegaly	1/1	OMIM:618343
1281	COL3A1	HP:0002126	Polymicrogyria	-	OMIM:618343
1281	COL3A1	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
1281	COL3A1	HP:0002107	Pneumothorax	2/2	OMIM:130050
1281	COL3A1	HP:0002107	Pneumothorax	6/53	OMIM:154700
1281	COL3A1	HP:0002107	Pneumothorax	HP:0040281	ORPHA:286
1281	COL3A1	HP:0002105	Hemoptysis	6/10	OMIM:130050
1281	COL3A1	HP:0002105	Hemoptysis	HP:0040283	ORPHA:286
1281	COL3A1	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:231160
1281	COL3A1	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
1281	COL3A1	HP:0010535	Sleep apnea	HP:0040283	ORPHA:286
1281	COL3A1	HP:0003593	Infantile onset	5/16	OMIM:208050
1281	COL3A1	HP:0003577	Congenital onset	1/1	OMIM:618343
1281	COL3A1	HP:0003577	Congenital onset	5/5	OMIM:121050
1281	COL3A1	HP:0003577	Congenital onset	12/26	OMIM:208050
1281	COL3A1	HP:0002242	Abnormal intestine morphology	HP:0040283	ORPHA:286
1281	COL3A1	HP:0100718	Uterine rupture	-	OMIM:130050
1281	COL3A1	HP:0100718	Uterine rupture	HP:0040283	ORPHA:286
1281	COL3A1	HP:0002213	Fine hair	HP:0040281	ORPHA:2500
1281	COL3A1	HP:0004872	Incisional hernia	-	OMIM:154700
1281	COL3A1	HP:0010719	Abnormality of hair texture	HP:0040283	ORPHA:286
1281	COL3A1	HP:0100784	Peripheral arteriovenous fistula	HP:0040281	ORPHA:286
1281	COL3A1	HP:0100775	Dural ectasia	112/140	OMIM:154700
1281	COL3A1	HP:0100749	Chest pain	1/2	OMIM:130050
1281	COL3A1	HP:0002293	Alopecia of scalp	-	OMIM:130050
1281	COL3A1	HP:0034671	Knee contracture	7/14	OMIM:121050
1281	COL3A1	HP:0007029	Cerebral berry aneurysm	HP:0040280	ORPHA:231160
1281	COL3A1	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
1281	COL3A1	HP:0010648	Dermal translucency	3/3	OMIM:130050
1281	COL3A1	HP:0010648	Dermal translucency	1/1	OMIM:618343
1281	COL3A1	HP:0010648	Dermal translucency	HP:0040281	ORPHA:286
1281	COL3A1	HP:0007099	Chiari type I malformation	-	OMIM:182212
1281	COL3A1	HP:0025019	Arterial rupture	-	OMIM:130050
1281	COL3A1	HP:0001065	Striae distensae	11/53	OMIM:154700
1281	COL3A1	HP:0002365	Hypoplasia of the brainstem	-	OMIM:618343
1281	COL3A1	HP:0001030	Fragile skin	-	OMIM:130050
1281	COL3A1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:231160
1281	COL3A1	HP:0001027	Soft, doughy skin	-	OMIM:208050
1281	COL3A1	HP:0002350	Cerebellar cyst	-	OMIM:618343
1281	COL3A1	HP:0002321	Vertigo	HP:0040283	ORPHA:286
1281	COL3A1	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:286
1281	COL3A1	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:286
1281	COL3A1	HP:0002326	Transient ischemic attack	HP:0040282	ORPHA:231160
1281	COL3A1	HP:0100645	Cystocele	-	OMIM:130050
1281	COL3A1	HP:0100645	Cystocele	HP:0040283	ORPHA:286
1281	COL3A1	HP:0001073	Cigarette-paper scars	-	OMIM:130050
1281	COL3A1	HP:0001073	Cigarette-paper scars	HP:0040283	ORPHA:286
1281	COL3A1	HP:0001075	Atrophic scars	-	OMIM:618343
1281	COL3A1	HP:0200042	Skin ulcer	HP:0040283	ORPHA:2500
1281	COL3A1	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
1281	COL3A1	HP:0001083	Ectopia lentis	119/251	OMIM:154700
1281	COL3A1	HP:0200055	Small hand	HP:0040282	ORPHA:2500
1281	COL3A1	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
1281	COL3A1	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
1281	COL3A1	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
1281	COL3A1	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
1281	COL3A1	HP:0003623	Neonatal onset	3/16	OMIM:208050
1281	COL3A1	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
1281	COL3A1	HP:0004970	Ascending tubular aorta aneurysm	HP:0040283	ORPHA:286
1281	COL3A1	HP:0004937	Pulmonary artery aneurysm	HP:0040283	ORPHA:286
1281	COL3A1	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
1281	COL3A1	HP:0003621	Juvenile onset	2/16	OMIM:208050
1281	COL3A1	HP:0004947	Arteriovenous fistula	HP:0040282	ORPHA:286
1281	COL3A1	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
1281	COL3A1	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
1281	COL3A1	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:286
1281	COL3A1	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
1281	COL3A1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
1281	COL3A1	HP:0001977	Abnormal thrombosis	-	OMIM:208050
1281	COL3A1	HP:0000615	Abnormal pupil morphology	HP:0040283	ORPHA:286
1281	COL3A1	HP:0001903	Anemia	1/1	OMIM:130050
1281	COL3A1	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
1281	COL3A1	HP:0000678	Dental crowding	-	OMIM:618343
1281	COL3A1	HP:0000678	Dental crowding	8/53	OMIM:154700
1281	COL3A1	HP:0000691	Microdontia	HP:0040283	ORPHA:286
1281	COL3A1	HP:0000689	Dental malocclusion	-	OMIM:182212
1281	COL3A1	HP:0000670	Carious teeth	HP:0040281	ORPHA:286
1281	COL3A1	HP:0004322	Short stature	-	OMIM:130050
1281	COL3A1	HP:0004322	Short stature	HP:0040281	ORPHA:286
1281	COL3A1	HP:0004322	Short stature	HP:0040281	ORPHA:2500
1281	COL3A1	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
1281	COL3A1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:286
1281	COL3A1	HP:0003088	Premature osteoarthritis	-	OMIM:154700
1281	COL3A1	HP:0003083	Dislocated radial head	5/37	OMIM:182212
1281	COL3A1	HP:0003066	Limited knee extension	38/45	OMIM:121050
1281	COL3A1	HP:0003042	Elbow dislocation	1/12	OMIM:121050
1281	COL3A1	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:286
1281	COL3A1	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
1281	COL3A1	HP:0031936	Delayed ability to walk	1/1	OMIM:618343
1281	COL3A1	HP:0005684	Distal arthrogryposis	-	OMIM:121050
1281	COL3A1	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
1281	COL3A1	HP:0012733	Macule	HP:0040281	ORPHA:286
1281	COL3A1	HP:0000767	Pectus excavatum	2/14	OMIM:121050
1281	COL3A1	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:286
1281	COL3A1	HP:0000767	Pectus excavatum	1/4	OMIM:130050
1281	COL3A1	HP:0000767	Pectus excavatum	3/15	OMIM:208050
1281	COL3A1	HP:0000767	Pectus excavatum	44/146	OMIM:154700
1281	COL3A1	HP:0000767	Pectus excavatum	-	OMIM:182212
1281	COL3A1	HP:0000768	Pectus carinatum	4/14	OMIM:121050
1281	COL3A1	HP:0000768	Pectus carinatum	2/15	OMIM:208050
1281	COL3A1	HP:0000768	Pectus carinatum	58/146	OMIM:154700
1281	COL3A1	HP:0000768	Pectus carinatum	-	OMIM:182212
1281	COL3A1	HP:0000750	Delayed speech and language development	HP:0040284	OMIM:618343
1281	COL3A1	HP:0000704	Periodontitis	-	OMIM:130050
1281	COL3A1	HP:0000704	Periodontitis	HP:0040283	ORPHA:286
1281	COL3A1	HP:0011463	Childhood onset	1/16	OMIM:208050
1281	COL3A1	HP:0011462	Young adult onset	3/16	OMIM:208050
1281	COL3A1	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
1281	COL3A1	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
1281	COL3A1	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
1281	COL3A1	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
1281	COL3A1	HP:0030799	Scaphocephaly	-	OMIM:121050
1281	COL3A1	HP:0003199	Decreased muscle mass	-	OMIM:154700
1281	COL3A1	HP:0000912	Sprengel anomaly	HP:0040281	ORPHA:286
1281	COL3A1	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
1281	COL3A1	HP:0004467	Preauricular pit	-	OMIM:187500
1281	COL3A1	HP:0000883	Thin ribs	-	OMIM:182212
1281	COL3A1	HP:0000822	Hypertension	HP:0040281	ORPHA:286
1281	COL3A1	HP:0000822	Hypertension	-	OMIM:208050
1281	COL3A1	HP:0000822	Hypertension	HP:0040282	ORPHA:231160
1281	COL3A1	HP:0000895	Lateral clavicle hook	-	OMIM:182212
1281	COL3A1	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
1281	COL3A1	HP:0034391	Elbow contracture	10/14	OMIM:121050
1281	COL3A1	HP:0003273	Hip contracture	32/121	OMIM:121050
1281	COL3A1	HP:0030816	Gingival recession	1/1	OMIM:618343
1281	COL3A1	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
1281	COL3A1	HP:0000995	Melanocytic nevus	HP:0040281	ORPHA:286
1281	COL3A1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040283	ORPHA:286
1281	COL3A1	HP:0000978	Bruising susceptibility	1/1	OMIM:618343
1281	COL3A1	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
1281	COL3A1	HP:0000978	Bruising susceptibility	HP:0040281	ORPHA:286
1281	COL3A1	HP:0000978	Bruising susceptibility	-	OMIM:208050
1281	COL3A1	HP:0000977	Soft skin	7/15	OMIM:208050
1281	COL3A1	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
1281	COL3A1	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
1281	COL3A1	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
1281	COL3A1	HP:0000973	Cutis laxa	5/14	OMIM:208050
1281	COL3A1	HP:0000987	Atypical scarring of skin	1/1	OMIM:618343
1281	COL3A1	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:286
1281	COL3A1	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:2500
1281	COL3A1	HP:0000963	Thin skin	HP:0040281	ORPHA:286
1281	COL3A1	HP:0000963	Thin skin	4/13	OMIM:208050
1281	COL3A1	HP:0000963	Thin skin	HP:0040281	ORPHA:2500
1281	COL3A1	HP:0000938	Osteopenia	-	OMIM:121050
1281	COL3A1	HP:0000938	Osteopenia	-	OMIM:182212
1281	COL3A1	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
1281	COL3A1	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:2500
1281	COL3A1	HP:0040197	Encephalomalacia	HP:0040283	ORPHA:231160
1281	COL3A1	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
1281	COL3A1	HP:0000286	Epicanthus	HP:0040281	ORPHA:286
1281	COL3A1	HP:0025586	Hypertropia	8/573	OMIM:154700
1281	COL3A1	HP:0000278	Retrognathia	-	OMIM:618343
1281	COL3A1	HP:0000278	Retrognathia	-	OMIM:154700
1281	COL3A1	HP:0001596	Alopecia	HP:0040283	ORPHA:286
1281	COL3A1	HP:0000260	Wide anterior fontanel	-	OMIM:182212
1281	COL3A1	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:231160
1281	COL3A1	HP:0000275	Narrow face	-	OMIM:154700
1281	COL3A1	HP:0000276	Long face	14/14	OMIM:208050
1281	COL3A1	HP:0000276	Long face	-	OMIM:618343
1281	COL3A1	HP:0000276	Long face	-	OMIM:154700
1281	COL3A1	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:286
1281	COL3A1	HP:0000272	Malar flattening	9/14	OMIM:208050
1281	COL3A1	HP:0000272	Malar flattening	31/53	OMIM:154700
1281	COL3A1	HP:0000268	Dolichocephaly	-	OMIM:121050
1281	COL3A1	HP:0000268	Dolichocephaly	36/53	OMIM:154700
1281	COL3A1	HP:0000268	Dolichocephaly	28/37	OMIM:182212
1281	COL3A1	HP:0005136	Mitral annular calcification	-	OMIM:154700
1281	COL3A1	HP:0002816	Genu recurvatum	-	OMIM:182212
1281	COL3A1	HP:0002816	Genu recurvatum	-	OMIM:154700
1281	COL3A1	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
1281	COL3A1	HP:0000244	Brachyturricephaly	-	OMIM:182212
1281	COL3A1	HP:0000238	Hydrocephalus	13/37	OMIM:182212
1281	COL3A1	HP:0000252	Microcephaly	6/37	OMIM:182212
1281	COL3A1	HP:0001582	Redundant skin	HP:0040283	ORPHA:286
1281	COL3A1	HP:0000248	Brachycephaly	-	OMIM:121050
1281	COL3A1	HP:0000218	High palate	34/53	OMIM:154700
1281	COL3A1	HP:0000218	High palate	30/102	OMIM:121050
1281	COL3A1	HP:0000218	High palate	5/13	OMIM:208050
1281	COL3A1	HP:0000218	High palate	30/37	OMIM:182212
1281	COL3A1	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:286
1281	COL3A1	HP:0000230	Gingivitis	HP:0040283	ORPHA:286
1281	COL3A1	HP:0000233	Thin vermilion border	-	OMIM:618343
1281	COL3A1	HP:0000233	Thin vermilion border	-	OMIM:130050
1281	COL3A1	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:286
1281	COL3A1	HP:0030009	Cervical insufficiency	-	OMIM:130050
1281	COL3A1	HP:0002857	Genu valgum	4/37	OMIM:182212
1281	COL3A1	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
1281	COL3A1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:286
1281	COL3A1	HP:0001537	Umbilical hernia	-	OMIM:208050
1281	COL3A1	HP:0001537	Umbilical hernia	13/37	OMIM:182212
1281	COL3A1	HP:0031364	Ecchymosis	-	OMIM:130050
1281	COL3A1	HP:0001519	Disproportionate tall stature	-	OMIM:121050
1281	COL3A1	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
1281	COL3A1	HP:0007800	Increased axial length of the globe	-	OMIM:154700
1281	COL3A1	HP:0012385	Camptodactyly	86/110	OMIM:121050
1281	COL3A1	HP:0012385	Camptodactyly	-	OMIM:618343
1281	COL3A1	HP:0012385	Camptodactyly	19/53	OMIM:154700
1281	COL3A1	HP:0012385	Camptodactyly	24/37	OMIM:182212
1281	COL3A1	HP:0000387	Absent earlobe	-	OMIM:130050
1281	COL3A1	HP:0012368	Flat face	HP:0040282	ORPHA:286
1281	COL3A1	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
1281	COL3A1	HP:0011029	Internal hemorrhage	HP:0040281	ORPHA:286
1281	COL3A1	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
1281	COL3A1	HP:0005244	Gastrointestinal infarctions	HP:0040281	ORPHA:286
1281	COL3A1	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
1281	COL3A1	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
1281	COL3A1	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
1281	COL3A1	HP:0002900	Hypokalemia	HP:0040281	ORPHA:286
1281	COL3A1	HP:0006480	Premature loss of teeth	-	OMIM:130050
1281	COL3A1	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
1281	COL3A1	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
1281	COL3A1	HP:0000369	Low-set ears	32/37	OMIM:182212
1281	COL3A1	HP:0000343	Long philtrum	-	OMIM:208050
1281	COL3A1	HP:0000337	Broad forehead	-	OMIM:187500
1281	COL3A1	HP:0002999	Patellar dislocation	2/20	OMIM:121050
1281	COL3A1	HP:0000347	Micrognathia	-	OMIM:618343
1281	COL3A1	HP:0000347	Micrognathia	-	OMIM:154700
1281	COL3A1	HP:0000347	Micrognathia	HP:0040282	ORPHA:2500
1281	COL3A1	HP:0000347	Micrognathia	26/94	OMIM:121050
1281	COL3A1	HP:0000347	Micrognathia	5/14	OMIM:208050
1281	COL3A1	HP:0000347	Micrognathia	33/37	OMIM:182212
1281	COL3A1	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
1281	COL3A1	HP:0000319	Smooth philtrum	1/1	OMIM:618343
1281	COL3A1	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
1281	COL3A1	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
1281	COL3A1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:286
1281	COL3A1	HP:0000316	Hypertelorism	6/16	OMIM:208050
1281	COL3A1	HP:0000316	Hypertelorism	28/37	OMIM:182212
1281	COL3A1	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
1281	COL3A1	HP:0001642	Pulmonic stenosis	1/1	OMIM:618343
1281	COL3A1	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
1281	COL3A1	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
1281	COL3A1	HP:0001659	Aortic regurgitation	-	OMIM:208050
1281	COL3A1	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:286
1281	COL3A1	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
1281	COL3A1	HP:0000322	Short philtrum	-	OMIM:618343
1281	COL3A1	HP:0001653	Mitral regurgitation	-	OMIM:121050
1281	COL3A1	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
1281	COL3A1	HP:0001629	Ventricular septal defect	-	OMIM:121050
1281	COL3A1	HP:0001622	Premature birth	HP:0040282	ORPHA:286
1281	COL3A1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
1281	COL3A1	HP:0001635	Congestive heart failure	-	OMIM:154700
1281	COL3A1	HP:0001631	Atrial septal defect	-	OMIM:121050
1281	COL3A1	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
1281	COL3A1	HP:0001634	Mitral valve prolapse	-	OMIM:130050
1281	COL3A1	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
1281	COL3A1	HP:0001634	Mitral valve prolapse	HP:0040281	ORPHA:286
1281	COL3A1	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
1281	COL3A1	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
1281	COL3A1	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
1281	COL3A1	HP:0000499	Abnormal eyelash morphology	HP:0040281	ORPHA:286
1281	COL3A1	HP:0007900	Hypoplastic lacrimal duct	HP:0040283	ORPHA:286
1281	COL3A1	HP:0011147	Typical absence seizure	1/1	OMIM:618343
1281	COL3A1	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
1281	COL3A1	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
1281	COL3A1	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
1281	COL3A1	HP:0000400	Macrotia	7/15	OMIM:208050
1281	COL3A1	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
1281	COL3A1	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
1281	COL3A1	HP:0005294	Arterial dissection	HP:0040282	ORPHA:286
1281	COL3A1	HP:0000483	Astigmatism	3/53	OMIM:154700
1281	COL3A1	HP:0000483	Astigmatism	5/15	OMIM:208050
1281	COL3A1	HP:0000486	Strabismus	110/573	OMIM:154700
1281	COL3A1	HP:0000486	Strabismus	17/37	OMIM:182212
1281	COL3A1	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
1281	COL3A1	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
1281	COL3A1	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
1281	COL3A1	HP:0000496	Abnormality of eye movement	-	OMIM:618343
1281	COL3A1	HP:0000490	Deeply set eye	HP:0040283	ORPHA:286
1281	COL3A1	HP:0000490	Deeply set eye	-	OMIM:618343
1281	COL3A1	HP:0000490	Deeply set eye	25/63	OMIM:154700
1281	COL3A1	HP:0000463	Anteverted nares	9/37	OMIM:182212
1281	COL3A1	HP:0001786	Narrow foot	33/53	OMIM:154700
1281	COL3A1	HP:0001788	Premature rupture of membranes	1/1	OMIM:618343
1281	COL3A1	HP:0000470	Short neck	-	OMIM:121050
1281	COL3A1	HP:0001773	Short foot	HP:0040282	ORPHA:2500
1281	COL3A1	HP:0001763	Pes planus	27/53	OMIM:154700
1281	COL3A1	HP:0001763	Pes planus	-	OMIM:182212
1281	COL3A1	HP:0001765	Hammertoe	-	OMIM:154700
1281	COL3A1	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
1281	COL3A1	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:2500
1281	COL3A1	HP:0000446	Narrow nasal bridge	HP:0040283	ORPHA:286
1281	COL3A1	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:618343
1281	COL3A1	HP:0000418	Narrow nasal ridge	-	OMIM:130050
1281	COL3A1	HP:0000418	Narrow nasal ridge	-	OMIM:618343
1281	COL3A1	HP:0000411	Protruding ear	HP:0040281	ORPHA:286
1281	COL3A1	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
1281	COL3A1	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:286
1281	COL3A1	HP:0001762	Talipes equinovarus	-	OMIM:618343
1281	COL3A1	HP:0001762	Talipes equinovarus	-	OMIM:130050
1281	COL3A1	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
1281	COL3A1	HP:0000430	Underdeveloped nasal alae	1/1	OMIM:618343
1281	COL3A1	HP:0001761	Pes cavus	49/146	OMIM:154700
1281	COL3A1	HP:0000518	Cataract	118/199	OMIM:154700
1281	COL3A1	HP:0001840	Metatarsus adductus	-	OMIM:121050
1281	COL3A1	HP:0001840	Metatarsus adductus	-	OMIM:182212
1281	COL3A1	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
1281	COL3A1	HP:0001842	Foot acroosteolysis	-	OMIM:130050
1281	COL3A1	HP:0000520	Proptosis	HP:0040282	ORPHA:286
1281	COL3A1	HP:0000520	Proptosis	-	OMIM:187500
1281	COL3A1	HP:0000520	Proptosis	29/37	OMIM:182212
1281	COL3A1	HP:0000506	Telecanthus	HP:0040281	ORPHA:286
1281	COL3A1	HP:0000506	Telecanthus	-	OMIM:182212
1281	COL3A1	HP:0000508	Ptosis	HP:0040283	ORPHA:286
1281	COL3A1	HP:0000508	Ptosis	16/37	OMIM:182212
1281	COL3A1	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
1281	COL3A1	HP:0000501	Glaucoma	HP:0040282	ORPHA:286
1281	COL3A1	HP:0000501	Glaucoma	29/625	OMIM:154700
1281	COL3A1	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:618343
1281	COL3A1	HP:0000581	Blepharophimosis	-	OMIM:208050
1281	COL3A1	HP:0000577	Exotropia	72/626	OMIM:154700
1281	COL3A1	HP:0000592	Blue sclerae	HP:0040283	ORPHA:286
1281	COL3A1	HP:0000586	Shallow orbits	13/37	OMIM:182212
1281	COL3A1	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:286
1281	COL3A1	HP:0000563	Keratoconus	-	OMIM:130050
1281	COL3A1	HP:0000563	Keratoconus	3/14	OMIM:208050
1281	COL3A1	HP:0000563	Keratoconus	HP:0040283	ORPHA:286
1281	COL3A1	HP:0011220	Prominent forehead	17/37	OMIM:182212
1281	COL3A1	HP:0000565	Esotropia	12/573	OMIM:154700
1281	COL3A1	HP:0000541	Retinal detachment	-	OMIM:154700
1281	COL3A1	HP:0000540	Hypermetropia	-	OMIM:618343
1281	COL3A1	HP:0001883	Talipes	13/53	OMIM:154700
1281	COL3A1	HP:0012518	Abnormal circle of Willis morphology	HP:0040282	ORPHA:231160
1281	COL3A1	HP:0000545	Myopia	-	OMIM:121050
1281	COL3A1	HP:0000545	Myopia	6/15	OMIM:208050
1281	COL3A1	HP:0000545	Myopia	93/251	OMIM:154700
1281	COL3A1	HP:0000545	Myopia	9/37	OMIM:182212
1282	COL4A1	HP:0001136	Retinal arteriolar tortuosity	3/3	OMIM:180000
1282	COL4A1	HP:0001136	Retinal arteriolar tortuosity	14/14	OMIM:611773
1282	COL4A1	HP:0001136	Retinal arteriolar tortuosity	6/6	OMIM:175780
1282	COL4A1	HP:0001123	Visual field defect	-	OMIM:175780
1282	COL4A1	HP:0002451	Limb dystonia	-	OMIM:175780
1282	COL4A1	HP:0009918	Ectopia pupillae	HP:0040284	OMIM:175780
1282	COL4A1	HP:0007209	Facial paralysis	-	OMIM:175780
1282	COL4A1	HP:0001272	Cerebellar atrophy	-	OMIM:175780
1282	COL4A1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:899
1282	COL4A1	HP:0001269	Hemiparesis	6/10	OMIM:175780
1282	COL4A1	HP:0001284	Areflexia	HP:0040281	ORPHA:899
1282	COL4A1	HP:0001250	Seizure	1/10	OMIM:175780
1282	COL4A1	HP:0001250	Seizure	HP:0040283	ORPHA:899
1282	COL4A1	HP:0001252	Hypotonia	HP:0040281	ORPHA:899
1282	COL4A1	HP:0001249	Intellectual disability	0/14	OMIM:611773
1282	COL4A1	HP:0001249	Intellectual disability	1/10	OMIM:175780
1282	COL4A1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:899
1282	COL4A1	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:899
1282	COL4A1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:899
1282	COL4A1	HP:0001257	Spasticity	-	OMIM:175780
1282	COL4A1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:899
1282	COL4A1	HP:0007359	Focal-onset seizure	1/10	OMIM:175780
1282	COL4A1	HP:0002539	Cortical dysplasia	-	OMIM:175780
1282	COL4A1	HP:0002536	Abnormal cortical gyration	HP:0040281	ORPHA:899
1282	COL4A1	HP:0002518	Abnormal periventricular white matter morphology	5/9	OMIM:611773
1282	COL4A1	HP:0003829	Typified by incomplete penetrance	-	OMIM:175780
1282	COL4A1	HP:0032325	Lacunar stroke	4/9	OMIM:611773
1282	COL4A1	HP:0000083	Renal insufficiency	HP:0040281	ORPHA:73229
1282	COL4A1	HP:0000083	Renal insufficiency	5/14	OMIM:611773
1282	COL4A1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:899
1282	COL4A1	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:899
1282	COL4A1	HP:0001332	Dystonia	1/10	OMIM:175780
1282	COL4A1	HP:0001328	Specific learning disability	HP:0040281	ORPHA:899
1282	COL4A1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:899
1282	COL4A1	HP:0001342	Cerebral hemorrhage	12/16	OMIM:175780
1282	COL4A1	HP:0001339	Lissencephaly	HP:0040281	ORPHA:899
1282	COL4A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:611773
1282	COL4A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180000
1282	COL4A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:175780
1282	COL4A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618564
1282	COL4A1	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:899
1282	COL4A1	HP:0001302	Pachygyria	HP:0040281	ORPHA:899
1282	COL4A1	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:899
1282	COL4A1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:899
1282	COL4A1	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:899
1282	COL4A1	HP:0000175	Cleft palate	HP:0040283	ORPHA:899
1282	COL4A1	HP:0007676	Hypoplasia of the iris	HP:0040284	OMIM:175780
1282	COL4A1	HP:0007663	Reduced visual acuity	HP:0040284	OMIM:175780
1282	COL4A1	HP:0500087	Peripapillary atrophy	HP:0040284	OMIM:175780
1282	COL4A1	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	HP:0040281	ORPHA:899
1282	COL4A1	HP:0000107	Renal cyst	4/14	OMIM:611773
1282	COL4A1	HP:0100543	Cognitive impairment	9/18	OMIM:618564
1282	COL4A1	HP:0003394	Muscle spasm	HP:0040281	ORPHA:73229
1282	COL4A1	HP:0003394	Muscle spasm	14/14	OMIM:611773
1282	COL4A1	HP:0002076	Migraine	-	OMIM:175780
1282	COL4A1	HP:0002077	Migraine with aura	3/6	OMIM:175780
1282	COL4A1	HP:0002140	Ischemic stroke	-	OMIM:175780
1282	COL4A1	HP:0003487	Babinski sign	1/10	OMIM:175780
1282	COL4A1	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:899
1282	COL4A1	HP:0002132	Porencephalic cyst	8/10	OMIM:175780
1282	COL4A1	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:899
1282	COL4A1	HP:0002172	Postural instability	6/15	OMIM:618564
1282	COL4A1	HP:0010508	Metatarsus valgus	HP:0040281	ORPHA:899
1282	COL4A1	HP:0003596	Middle age onset	3/5	OMIM:618564
1282	COL4A1	HP:0003593	Infantile onset	1/9	OMIM:175780
1282	COL4A1	HP:0002273	Tetraparesis	-	OMIM:175780
1282	COL4A1	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:899
1282	COL4A1	HP:0003577	Congenital onset	4/9	OMIM:175780
1282	COL4A1	HP:0003581	Adult onset	3/3	OMIM:180000
1282	COL4A1	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:899
1282	COL4A1	HP:0032046	Focal cortical dysplasia	-	OMIM:175780
1282	COL4A1	HP:0010636	Schizencephaly	-	OMIM:175780
1282	COL4A1	HP:0002352	Leukoencephalopathy	6/6	OMIM:175780
1282	COL4A1	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040281	ORPHA:899
1282	COL4A1	HP:0002301	Hemiplegia	1/10	OMIM:175780
1282	COL4A1	HP:0004944	Dilatation of the cerebral artery	5/9	OMIM:611773
1282	COL4A1	HP:0005562	Multiple renal cysts	HP:0040281	ORPHA:73229
1282	COL4A1	HP:0000646	Amblyopia	-	OMIM:175780
1282	COL4A1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:899
1282	COL4A1	HP:0000613	Photophobia	1/3	OMIM:180000
1282	COL4A1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:899
1282	COL4A1	HP:0000622	Blurred vision	-	OMIM:175780
1282	COL4A1	HP:0000726	Dementia	1/18	OMIM:618564
1282	COL4A1	HP:0011496	Corneal neovascularization	HP:0040284	OMIM:175780
1282	COL4A1	HP:0011463	Childhood onset	4/9	OMIM:175780
1282	COL4A1	HP:0011462	Young adult onset	2/5	OMIM:618564
1282	COL4A1	HP:0000790	Hematuria	HP:0040283	ORPHA:73229
1282	COL4A1	HP:0000790	Hematuria	7/14	OMIM:611773
1282	COL4A1	HP:0012841	Retinal vascular tortuosity	HP:0040281	ORPHA:73229
1282	COL4A1	HP:0011500	Polycoria	HP:0040284	OMIM:175780
1282	COL4A1	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040281	ORPHA:899
1282	COL4A1	HP:0003236	Elevated circulating creatine kinase concentration	14/14	OMIM:611773
1282	COL4A1	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:175780
1282	COL4A1	HP:0030880	Raynaud phenomenon	6/14	OMIM:611773
1282	COL4A1	HP:0030890	Hyperintensity of cerebral white matter on MRI	18/18	OMIM:618564
1282	COL4A1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:899
1282	COL4A1	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040281	ORPHA:899
1282	COL4A1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:899
1282	COL4A1	HP:0005115	Supraventricular arrhythmia	5/14	OMIM:611773
1282	COL4A1	HP:0007731	Chorioretinal dysplasia	HP:0040281	ORPHA:899
1282	COL4A1	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:899
1282	COL4A1	HP:0000238	Hydrocephalus	-	OMIM:175780
1282	COL4A1	HP:0000252	Microcephaly	HP:0040283	ORPHA:899
1282	COL4A1	HP:0007894	Hypopigmentation of the fundus	-	OMIM:175780
1282	COL4A1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:899
1282	COL4A1	HP:0000369	Low-set ears	HP:0040283	ORPHA:899
1282	COL4A1	HP:0007957	Corneal opacity	HP:0040282	ORPHA:899
1282	COL4A1	HP:0007957	Corneal opacity	HP:0040284	OMIM:175780
1282	COL4A1	HP:0007973	Retinal dysplasia	HP:0040281	ORPHA:899
1282	COL4A1	HP:0000483	Astigmatism	HP:0040284	OMIM:175780
1282	COL4A1	HP:0000482	Microcornea	HP:0040283	ORPHA:899
1282	COL4A1	HP:0000482	Microcornea	HP:0040284	OMIM:175780
1282	COL4A1	HP:0012400	Abnormal circulating aldolase concentration	HP:0040281	ORPHA:899
1282	COL4A1	HP:0000411	Protruding ear	HP:0040283	ORPHA:899
1282	COL4A1	HP:0000518	Cataract	HP:0040283	ORPHA:899
1282	COL4A1	HP:0000519	Developmental cataract	HP:0040284	OMIM:175780
1282	COL4A1	HP:0000528	Anophthalmia	HP:0040282	ORPHA:899
1282	COL4A1	HP:0000501	Glaucoma	HP:0040284	OMIM:175780
1282	COL4A1	HP:0000501	Glaucoma	HP:0040282	ORPHA:899
1282	COL4A1	HP:0000577	Exotropia	-	OMIM:175780
1282	COL4A1	HP:0000587	Abnormal optic nerve morphology	HP:0040281	ORPHA:899
1282	COL4A1	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:899
1282	COL4A1	HP:0000572	Visual loss	0/3	OMIM:180000
1282	COL4A1	HP:0000573	Retinal hemorrhage	-	OMIM:611773
1282	COL4A1	HP:0000573	Retinal hemorrhage	1/6	OMIM:175780
1282	COL4A1	HP:0000573	Retinal hemorrhage	2/3	OMIM:180000
1282	COL4A1	HP:0000568	Microphthalmia	HP:0040284	OMIM:175780
1282	COL4A1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:899
1282	COL4A1	HP:0000541	Retinal detachment	HP:0040281	ORPHA:899
1282	COL4A1	HP:0000540	Hypermetropia	HP:0040284	OMIM:175780
1282	COL4A1	HP:0012520	Dilation of Virchow-Robin spaces	6/6	OMIM:175780
1282	COL4A1	HP:0001878	Hemolytic anemia	-	OMIM:175780
1282	COL4A1	HP:0000545	Myopia	-	OMIM:175780
1284	COL4A2	HP:0001263	Global developmental delay	2/2	OMIM:614483
1284	COL4A2	HP:0032391	Subcortical heterotopia	2/2	OMIM:614483
1284	COL4A2	HP:0007359	Focal-onset seizure	1/2	OMIM:614483
1284	COL4A2	HP:0003829	Typified by incomplete penetrance	-	OMIM:614483
1284	COL4A2	HP:0002510	Spastic tetraplegia	2/2	OMIM:614483
1284	COL4A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614483
1284	COL4A2	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:614483
1284	COL4A2	HP:0002119	Ventriculomegaly	-	OMIM:614483
1284	COL4A2	HP:0002132	Porencephalic cyst	-	OMIM:614483
1284	COL4A2	HP:0002126	Polymicrogyria	2/2	OMIM:614483
1284	COL4A2	HP:0002170	Intracranial hemorrhage	-	OMIM:614483
1284	COL4A2	HP:0010636	Schizencephaly	2/2	OMIM:614483
1284	COL4A2	HP:0002301	Hemiplegia	1/4	OMIM:614483
1284	COL4A2	HP:0001510	Growth delay	2/2	OMIM:614483
1284	COL4A2	HP:0000565	Esotropia	1/2	OMIM:614483
1285	COL4A3	HP:0001134	Anterior polar cataract	-	OMIM:104200
1285	COL4A3	HP:0001142	Lenticonus	-	OMIM:104200
1285	COL4A3	HP:0001142	Lenticonus	-	OMIM:301050
1285	COL4A3	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:301050
1285	COL4A3	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
1285	COL4A3	HP:0003774	Stage 5 chronic kidney disease	2/7	OMIM:104200
1285	COL4A3	HP:0003774	Stage 5 chronic kidney disease	3/6	OMIM:620536
1285	COL4A3	HP:0008619	Bilateral sensorineural hearing impairment	1/6	OMIM:620536
1285	COL4A3	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
1285	COL4A3	HP:0000083	Renal insufficiency	6/6	OMIM:620536
1285	COL4A3	HP:0000083	Renal insufficiency	-	OMIM:301050
1285	COL4A3	HP:0000083	Renal insufficiency	-	OMIM:104200
1285	COL4A3	HP:0000099	Glomerulonephritis	-	OMIM:104200
1285	COL4A3	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
1285	COL4A3	HP:0000093	Proteinuria	3/3	OMIM:620536
1285	COL4A3	HP:0000093	Proteinuria	-	OMIM:301050
1285	COL4A3	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
1285	COL4A3	HP:0000093	Proteinuria	0/9	OMIM:620320
1285	COL4A3	HP:0000093	Proteinuria	7/7	OMIM:104200
1285	COL4A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:620536
1285	COL4A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:104200
1285	COL4A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:620320
1285	COL4A3	HP:0000121	Nephrocalcinosis	-	OMIM:104200
1285	COL4A3	HP:0000123	Nephritis	-	OMIM:104200
1285	COL4A3	HP:0000123	Nephritis	-	OMIM:301050
1285	COL4A3	HP:0000100	Nephrotic syndrome	-	OMIM:301050
1285	COL4A3	HP:0000100	Nephrotic syndrome	-	OMIM:104200
1285	COL4A3	HP:0000100	Nephrotic syndrome	1/6	OMIM:620536
1285	COL4A3	HP:0001423	X-linked dominant inheritance	-	OMIM:301050
1285	COL4A3	HP:0001417	X-linked inheritance	-	OMIM:301050
1285	COL4A3	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
1285	COL4A3	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
1285	COL4A3	HP:0002157	Azotemia	-	OMIM:104200
1285	COL4A3	HP:0002148	Hypophosphatemia	-	OMIM:104200
1285	COL4A3	HP:0033282	Abnormal glomerular basement membrane morphology	0/4	OMIM:620320
1285	COL4A3	HP:0004722	Thickened glomerular basement membrane	-	OMIM:104200
1285	COL4A3	HP:0004722	Thickened glomerular basement membrane	-	OMIM:301050
1285	COL4A3	HP:0003581	Adult onset	3/9	OMIM:620320
1285	COL4A3	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
1285	COL4A3	HP:0003676	Progressive	-	OMIM:301050
1285	COL4A3	HP:0003676	Progressive	-	OMIM:104200
1285	COL4A3	HP:0002315	Headache	HP:0040283	ORPHA:656
1285	COL4A3	HP:0200020	Corneal erosion	-	OMIM:301050
1285	COL4A3	HP:0003621	Juvenile onset	4/6	OMIM:620536
1285	COL4A3	HP:0003621	Juvenile onset	6/9	OMIM:620320
1285	COL4A3	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
1285	COL4A3	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
1285	COL4A3	HP:6001026	Reduced epidermal collagen IV alpha 5 chain staining	183/207	OMIM:301050
1285	COL4A3	HP:0001945	Fever	HP:0040283	ORPHA:656
1285	COL4A3	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
1285	COL4A3	HP:0000737	Irritability	HP:0040283	ORPHA:656
1285	COL4A3	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
1285	COL4A3	HP:0011463	Childhood onset	2/6	OMIM:620536
1285	COL4A3	HP:0000790	Hematuria	-	OMIM:104200
1285	COL4A3	HP:0011501	Anterior lenticonus	-	OMIM:301050
1285	COL4A3	HP:0000829	Hypoparathyroidism	-	OMIM:301050
1285	COL4A3	HP:0000822	Hypertension	-	OMIM:301050
1285	COL4A3	HP:0000822	Hypertension	-	OMIM:104200
1285	COL4A3	HP:0000969	Edema	HP:0040281	ORPHA:656
1285	COL4A3	HP:0008064	Ichthyosis	-	OMIM:301050
1285	COL4A3	HP:0030034	Glomerular basement membrane lamellation	-	OMIM:104200
1285	COL4A3	HP:0030034	Glomerular basement membrane lamellation	-	OMIM:301050
1285	COL4A3	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
1285	COL4A3	HP:0002907	Microscopic hematuria	7/7	OMIM:104200
1285	COL4A3	HP:0002907	Microscopic hematuria	9/9	OMIM:620320
1285	COL4A3	HP:0002907	Microscopic hematuria	6/6	OMIM:620536
1285	COL4A3	HP:0002907	Microscopic hematuria	-	OMIM:301050
1285	COL4A3	HP:0000365	Hearing impairment	1/7	OMIM:104200
1285	COL4A3	HP:0000365	Hearing impairment	1/6	OMIM:620536
1285	COL4A3	HP:0000407	Sensorineural hearing impairment	-	OMIM:301050
1285	COL4A3	HP:0000407	Sensorineural hearing impairment	-	OMIM:104200
1285	COL4A3	HP:0000407	Sensorineural hearing impairment	1/6	OMIM:620536
1285	COL4A3	HP:0000407	Sensorineural hearing impairment	0/9	OMIM:620320
1285	COL4A3	HP:0006756	Diffuse leiomyomatosis	-	OMIM:301050
1285	COL4A3	HP:0000519	Developmental cataract	-	OMIM:301050
1285	COL4A3	HP:0012592	Albuminuria	1/6	OMIM:620536
1285	COL4A3	HP:0012577	Thin glomerular basement membrane	1/6	OMIM:620536
1285	COL4A3	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
1285	COL4A3	HP:0001873	Thrombocytopenia	-	OMIM:301050
1285	COL4A3	HP:0000545	Myopia	-	OMIM:301050
1285	COL4A3	HP:0000545	Myopia	-	OMIM:104200
1286	COL4A4	HP:0001142	Lenticonus	-	OMIM:301050
1286	COL4A4	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:301050
1286	COL4A4	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:203780
1286	COL4A4	HP:0000083	Renal insufficiency	-	OMIM:301050
1286	COL4A4	HP:0000083	Renal insufficiency	-	OMIM:203780
1286	COL4A4	HP:0000093	Proteinuria	-	OMIM:301050
1286	COL4A4	HP:0000093	Proteinuria	-	OMIM:203780
1286	COL4A4	HP:0000007	Autosomal recessive inheritance	-	OMIM:203780
1286	COL4A4	HP:0000006	Autosomal dominant inheritance	-	OMIM:141200
1286	COL4A4	HP:0000123	Nephritis	-	OMIM:203780
1286	COL4A4	HP:0000123	Nephritis	-	OMIM:301050
1286	COL4A4	HP:0000100	Nephrotic syndrome	-	OMIM:301050
1286	COL4A4	HP:0000100	Nephrotic syndrome	-	OMIM:203780
1286	COL4A4	HP:0001423	X-linked dominant inheritance	-	OMIM:301050
1286	COL4A4	HP:0001417	X-linked inheritance	-	OMIM:301050
1286	COL4A4	HP:0004722	Thickened glomerular basement membrane	-	OMIM:203780
1286	COL4A4	HP:0004722	Thickened glomerular basement membrane	-	OMIM:301050
1286	COL4A4	HP:0003676	Progressive	-	OMIM:301050
1286	COL4A4	HP:0003676	Progressive	-	OMIM:203780
1286	COL4A4	HP:0003680	Nonprogressive	-	OMIM:141200
1286	COL4A4	HP:0200020	Corneal erosion	-	OMIM:203780
1286	COL4A4	HP:0200020	Corneal erosion	-	OMIM:301050
1286	COL4A4	HP:6001026	Reduced epidermal collagen IV alpha 5 chain staining	183/207	OMIM:301050
1286	COL4A4	HP:0000790	Hematuria	-	OMIM:141200
1286	COL4A4	HP:0000790	Hematuria	-	OMIM:203780
1286	COL4A4	HP:0011501	Anterior lenticonus	-	OMIM:203780
1286	COL4A4	HP:0011501	Anterior lenticonus	-	OMIM:301050
1286	COL4A4	HP:0000829	Hypoparathyroidism	-	OMIM:301050
1286	COL4A4	HP:0000822	Hypertension	-	OMIM:203780
1286	COL4A4	HP:0000822	Hypertension	-	OMIM:301050
1286	COL4A4	HP:0008064	Ichthyosis	-	OMIM:301050
1286	COL4A4	HP:0030034	Glomerular basement membrane lamellation	-	OMIM:203780
1286	COL4A4	HP:0030034	Glomerular basement membrane lamellation	-	OMIM:301050
1286	COL4A4	HP:0002907	Microscopic hematuria	-	OMIM:301050
1286	COL4A4	HP:0000365	Hearing impairment	-	OMIM:203780
1286	COL4A4	HP:0000407	Sensorineural hearing impairment	-	OMIM:301050
1286	COL4A4	HP:0006756	Diffuse leiomyomatosis	-	OMIM:301050
1286	COL4A4	HP:0000518	Cataract	-	OMIM:203780
1286	COL4A4	HP:0000519	Developmental cataract	-	OMIM:301050
1286	COL4A4	HP:0012577	Thin glomerular basement membrane	-	OMIM:141200
1286	COL4A4	HP:0001873	Thrombocytopenia	-	OMIM:301050
1286	COL4A4	HP:0000545	Myopia	-	OMIM:203780
1286	COL4A4	HP:0000545	Myopia	-	OMIM:301050
1287	COL4A5	HP:0001142	Lenticonus	-	OMIM:301050
1287	COL4A5	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:301050
1287	COL4A5	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:1018
1287	COL4A5	HP:0002571	Achalasia	HP:0040282	ORPHA:1018
1287	COL4A5	HP:0410281	Dyspepsia	HP:0040282	ORPHA:1018
1287	COL4A5	HP:0000083	Renal insufficiency	-	OMIM:301050
1287	COL4A5	HP:0000093	Proteinuria	HP:0040282	ORPHA:1018
1287	COL4A5	HP:0000093	Proteinuria	-	OMIM:301050
1287	COL4A5	HP:0000123	Nephritis	-	OMIM:301050
1287	COL4A5	HP:0000100	Nephrotic syndrome	-	OMIM:301050
1287	COL4A5	HP:0001423	X-linked dominant inheritance	-	OMIM:301050
1287	COL4A5	HP:0000112	Nephropathy	HP:0040282	ORPHA:1018
1287	COL4A5	HP:0001417	X-linked inheritance	-	OMIM:301050
1287	COL4A5	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:1018
1287	COL4A5	HP:0002031	Abnormal esophagus morphology	HP:0040281	ORPHA:1018
1287	COL4A5	HP:0002015	Dysphagia	HP:0040281	ORPHA:1018
1287	COL4A5	HP:0002013	Vomiting	HP:0040282	ORPHA:1018
1287	COL4A5	HP:0002094	Dyspnea	HP:0040283	ORPHA:1018
1287	COL4A5	HP:0010450	Esophageal stenosis	HP:0040283	ORPHA:1018
1287	COL4A5	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:1018
1287	COL4A5	HP:0010460	Abnormality of the female genitalia	HP:0040282	ORPHA:1018
1287	COL4A5	HP:0004722	Thickened glomerular basement membrane	-	OMIM:301050
1287	COL4A5	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:1018
1287	COL4A5	HP:0100771	Hypoperistalsis	HP:0040282	ORPHA:1018
1287	COL4A5	HP:0100751	Esophageal neoplasm	HP:0040281	ORPHA:1018
1287	COL4A5	HP:0100749	Chest pain	HP:0040282	ORPHA:1018
1287	COL4A5	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:1018
1287	COL4A5	HP:0010614	Fibroma	HP:0040283	ORPHA:1018
1287	COL4A5	HP:0003676	Progressive	-	OMIM:301050
1287	COL4A5	HP:0100650	Vaginal neoplasm	HP:0040283	ORPHA:1018
1287	COL4A5	HP:0200020	Corneal erosion	-	OMIM:301050
1287	COL4A5	HP:0010784	Uterine neoplasm	HP:0040283	ORPHA:1018
1287	COL4A5	HP:0032141	Precordial pain	HP:0040283	ORPHA:1018
1287	COL4A5	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:1018
1287	COL4A5	HP:6001026	Reduced epidermal collagen IV alpha 5 chain staining	183/207	OMIM:301050
1287	COL4A5	HP:0012735	Cough	HP:0040283	ORPHA:1018
1287	COL4A5	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040281	ORPHA:1018
1287	COL4A5	HP:0000790	Hematuria	HP:0040282	ORPHA:1018
1287	COL4A5	HP:0011501	Anterior lenticonus	-	OMIM:301050
1287	COL4A5	HP:0011501	Anterior lenticonus	HP:0040283	ORPHA:1018
1287	COL4A5	HP:0000829	Hypoparathyroidism	-	OMIM:301050
1287	COL4A5	HP:0000822	Hypertension	-	OMIM:301050
1287	COL4A5	HP:0003262	Anti-smooth muscle antibody positivity	HP:0040282	ORPHA:1018
1287	COL4A5	HP:0008064	Ichthyosis	-	OMIM:301050
1287	COL4A5	HP:0012252	Abnormal respiratory system morphology	HP:0040283	ORPHA:1018
1287	COL4A5	HP:0030034	Glomerular basement membrane lamellation	-	OMIM:301050
1287	COL4A5	HP:0001508	Failure to thrive	HP:0040282	ORPHA:1018
1287	COL4A5	HP:0006524	Tracheobronchial leiomyomatosis	HP:0040283	ORPHA:1018
1287	COL4A5	HP:0002907	Microscopic hematuria	-	OMIM:301050
1287	COL4A5	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:1018
1287	COL4A5	HP:0000407	Sensorineural hearing impairment	-	OMIM:301050
1287	COL4A5	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:1018
1287	COL4A5	HP:0000491	Keratitis	HP:0040283	ORPHA:1018
1287	COL4A5	HP:0006756	Diffuse leiomyomatosis	-	OMIM:301050
1287	COL4A5	HP:0006756	Diffuse leiomyomatosis	HP:0040282	ORPHA:1018
1287	COL4A5	HP:0030416	Vulvar neoplasm	HP:0040283	ORPHA:1018
1287	COL4A5	HP:0000518	Cataract	HP:0040282	ORPHA:1018
1287	COL4A5	HP:0000519	Developmental cataract	-	OMIM:301050
1287	COL4A5	HP:0001824	Weight loss	HP:0040283	ORPHA:1018
1287	COL4A5	HP:0001873	Thrombocytopenia	-	OMIM:301050
1287	COL4A5	HP:0000545	Myopia	HP:0040283	ORPHA:1018
1287	COL4A5	HP:0000545	Myopia	-	OMIM:301050
1288	COL4A6	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:1018
1288	COL4A6	HP:0008619	Bilateral sensorineural hearing impairment	4/4	OMIM:300914
1288	COL4A6	HP:0002571	Achalasia	HP:0040282	ORPHA:1018
1288	COL4A6	HP:0410281	Dyspepsia	HP:0040282	ORPHA:1018
1288	COL4A6	HP:0000093	Proteinuria	HP:0040282	ORPHA:1018
1288	COL4A6	HP:0000112	Nephropathy	HP:0040282	ORPHA:1018
1288	COL4A6	HP:0001419	X-linked recessive inheritance	-	OMIM:300914
1288	COL4A6	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:1018
1288	COL4A6	HP:0002031	Abnormal esophagus morphology	HP:0040281	ORPHA:1018
1288	COL4A6	HP:0002015	Dysphagia	HP:0040281	ORPHA:1018
1288	COL4A6	HP:0002013	Vomiting	HP:0040282	ORPHA:1018
1288	COL4A6	HP:0002094	Dyspnea	HP:0040283	ORPHA:1018
1288	COL4A6	HP:0010450	Esophageal stenosis	HP:0040283	ORPHA:1018
1288	COL4A6	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:1018
1288	COL4A6	HP:0010460	Abnormality of the female genitalia	HP:0040282	ORPHA:1018
1288	COL4A6	HP:0003577	Congenital onset	4/4	OMIM:300914
1288	COL4A6	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:1018
1288	COL4A6	HP:0100771	Hypoperistalsis	HP:0040282	ORPHA:1018
1288	COL4A6	HP:0100751	Esophageal neoplasm	HP:0040281	ORPHA:1018
1288	COL4A6	HP:0100749	Chest pain	HP:0040282	ORPHA:1018
1288	COL4A6	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:1018
1288	COL4A6	HP:0010614	Fibroma	HP:0040283	ORPHA:1018
1288	COL4A6	HP:0100650	Vaginal neoplasm	HP:0040283	ORPHA:1018
1288	COL4A6	HP:0010784	Uterine neoplasm	HP:0040283	ORPHA:1018
1288	COL4A6	HP:0032141	Precordial pain	HP:0040283	ORPHA:1018
1288	COL4A6	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:1018
1288	COL4A6	HP:0011373	Incomplete partition of the cochlea	4/4	OMIM:300914
1288	COL4A6	HP:0012735	Cough	HP:0040283	ORPHA:1018
1288	COL4A6	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040281	ORPHA:1018
1288	COL4A6	HP:0000790	Hematuria	HP:0040282	ORPHA:1018
1288	COL4A6	HP:0011501	Anterior lenticonus	HP:0040283	ORPHA:1018
1288	COL4A6	HP:0003262	Anti-smooth muscle antibody positivity	HP:0040282	ORPHA:1018
1288	COL4A6	HP:0012252	Abnormal respiratory system morphology	HP:0040283	ORPHA:1018
1288	COL4A6	HP:0001508	Failure to thrive	HP:0040282	ORPHA:1018
1288	COL4A6	HP:0006524	Tracheobronchial leiomyomatosis	HP:0040283	ORPHA:1018
1288	COL4A6	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:1018
1288	COL4A6	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:1018
1288	COL4A6	HP:0000491	Keratitis	HP:0040283	ORPHA:1018
1288	COL4A6	HP:0006756	Diffuse leiomyomatosis	HP:0040282	ORPHA:1018
1288	COL4A6	HP:0030416	Vulvar neoplasm	HP:0040283	ORPHA:1018
1288	COL4A6	HP:0000518	Cataract	HP:0040282	ORPHA:1018
1288	COL4A6	HP:0001824	Weight loss	HP:0040283	ORPHA:1018
1288	COL4A6	HP:0000545	Myopia	HP:0040283	ORPHA:1018
1289	COL5A1	HP:0001187	Hyperextensibility of the finger joints	-	OMIM:130000
1289	COL5A1	HP:0003771	Pulp calcification	HP:0040282	ORPHA:287
1289	COL5A1	HP:0001278	Orthostatic hypotension	HP:0040284	ORPHA:287
1289	COL5A1	HP:0001270	Motor delay	HP:0040283	ORPHA:287
1289	COL5A1	HP:0001252	Hypotonia	HP:0040282	ORPHA:287
1289	COL5A1	HP:0100858	Dilatation of celiac artery	1/4	OMIM:619329
1289	COL5A1	HP:0003835	Shoulder subluxation	1/6	OMIM:619329
1289	COL5A1	HP:0003834	Shoulder dislocation	HP:0040283	ORPHA:287
1289	COL5A1	HP:0001373	Joint dislocation	-	OMIM:130000
1289	COL5A1	HP:0001386	Joint swelling	HP:0040283	ORPHA:287
1289	COL5A1	HP:0001382	Joint hypermobility	3/6	OMIM:619329
1289	COL5A1	HP:0001382	Joint hypermobility	-	OMIM:130000
1289	COL5A1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:287
1289	COL5A1	HP:0000023	Inguinal hernia	-	OMIM:130000
1289	COL5A1	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:287
1289	COL5A1	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:287
1289	COL5A1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:287
1289	COL5A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619329
1289	COL5A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:130000
1289	COL5A1	HP:0002650	Scoliosis	HP:0040283	ORPHA:287
1289	COL5A1	HP:0002650	Scoliosis	1/6	OMIM:619329
1289	COL5A1	HP:0002616	Aortic root aneurysm	14/42	OMIM:130000
1289	COL5A1	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:287
1289	COL5A1	HP:0000139	Uterine prolapse	HP:0040283	ORPHA:287
1289	COL5A1	HP:0006316	Irregularly spaced teeth	-	OMIM:130000
1289	COL5A1	HP:0008947	Floppy infant	-	OMIM:130000
1289	COL5A1	HP:0006243	Phalangeal dislocation	HP:0040283	ORPHA:287
1289	COL5A1	HP:0002783	Recurrent lower respiratory tract infections	5/10	OMIM:130000
1289	COL5A1	HP:0002761	Generalized joint hypermobility	HP:0040281	ORPHA:287
1289	COL5A1	HP:0002758	Osteoarthritis	-	OMIM:130000
1289	COL5A1	HP:0002758	Osteoarthritis	HP:0040283	ORPHA:287
1289	COL5A1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:287
1289	COL5A1	HP:0002018	Nausea	HP:0040282	ORPHA:287
1289	COL5A1	HP:0002036	Hiatus hernia	HP:0040283	ORPHA:287
1289	COL5A1	HP:0002036	Hiatus hernia	1/6	OMIM:619329
1289	COL5A1	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:287
1289	COL5A1	HP:0002013	Vomiting	HP:0040282	ORPHA:287
1289	COL5A1	HP:0002010	Narrow maxilla	-	OMIM:130000
1289	COL5A1	HP:0003394	Muscle spasm	HP:0040282	ORPHA:287
1289	COL5A1	HP:0002076	Migraine	5/6	OMIM:619329
1289	COL5A1	HP:0010485	Hyperextensibility at elbow	-	OMIM:130000
1289	COL5A1	HP:0002105	Hemoptysis	1/10	OMIM:130000
1289	COL5A1	HP:0010500	Hyperextensibility of the knee	-	OMIM:130000
1289	COL5A1	HP:0004872	Incisional hernia	HP:0040283	ORPHA:287
1289	COL5A1	HP:0010648	Dermal translucency	1/6	OMIM:619329
1289	COL5A1	HP:0001058	Poor wound healing	HP:0040282	ORPHA:287
1289	COL5A1	HP:0001058	Poor wound healing	-	OMIM:130000
1289	COL5A1	HP:0025019	Arterial rupture	HP:0040283	ORPHA:287
1289	COL5A1	HP:0001063	Acrocyanosis	HP:0040283	ORPHA:287
1289	COL5A1	HP:0025014	Subcutaneous spheroids	HP:0040283	ORPHA:287
1289	COL5A1	HP:0025014	Subcutaneous spheroids	-	OMIM:130000
1289	COL5A1	HP:0001065	Striae distensae	HP:0040281	ORPHA:287
1289	COL5A1	HP:0001065	Striae distensae	1/6	OMIM:619329
1289	COL5A1	HP:0001030	Fragile skin	-	OMIM:130000
1289	COL5A1	HP:0001030	Fragile skin	HP:0040281	ORPHA:287
1289	COL5A1	HP:0001027	Soft, doughy skin	HP:0040281	ORPHA:287
1289	COL5A1	HP:0001027	Soft, doughy skin	2/6	OMIM:619329
1289	COL5A1	HP:0002315	Headache	HP:0040284	ORPHA:287
1289	COL5A1	HP:0001073	Cigarette-paper scars	HP:0040281	ORPHA:287
1289	COL5A1	HP:0001073	Cigarette-paper scars	20/20	OMIM:130000
1289	COL5A1	HP:0001075	Atrophic scars	2/6	OMIM:619329
1289	COL5A1	HP:0001075	Atrophic scars	HP:0040281	ORPHA:287
1289	COL5A1	HP:0001083	Ectopia lentis	-	OMIM:130000
1289	COL5A1	HP:0032153	Joint subluxation	3/6	OMIM:619329
1289	COL5A1	HP:0010750	Dermatochalasis	HP:0040283	ORPHA:287
1289	COL5A1	HP:0010754	Abnormality of the temporomandibular joint	HP:0040283	ORPHA:287
1289	COL5A1	HP:0010749	Blepharochalasis	HP:0040283	ORPHA:287
1289	COL5A1	HP:0009763	Limb pain	HP:0040283	ORPHA:287
1289	COL5A1	HP:0004938	Tortuous cerebral arteries	3/4	OMIM:619329
1289	COL5A1	HP:0004937	Pulmonary artery aneurysm	1/4	OMIM:619329
1289	COL5A1	HP:0004947	Arteriovenous fistula	HP:0040283	ORPHA:287
1289	COL5A1	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:287
1289	COL5A1	HP:0004944	Dilatation of the cerebral artery	1/4	OMIM:619329
1289	COL5A1	HP:0000678	Dental crowding	1/6	OMIM:619329
1289	COL5A1	HP:0004322	Short stature	-	OMIM:130000
1289	COL5A1	HP:0003083	Dislocated radial head	HP:0040283	ORPHA:287
1289	COL5A1	HP:0003010	Prolonged bleeding time	HP:0040283	ORPHA:287
1289	COL5A1	HP:0000767	Pectus excavatum	2/6	OMIM:619329
1289	COL5A1	HP:0000767	Pectus excavatum	2/10	OMIM:130000
1289	COL5A1	HP:0000993	Molluscoid pseudotumors	HP:0040283	ORPHA:287
1289	COL5A1	HP:0000993	Molluscoid pseudotumors	-	OMIM:130000
1289	COL5A1	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:287
1289	COL5A1	HP:0000978	Bruising susceptibility	-	OMIM:130000
1289	COL5A1	HP:0000977	Soft skin	-	OMIM:130000
1289	COL5A1	HP:0000977	Soft skin	2/6	OMIM:619329
1289	COL5A1	HP:0000974	Hyperextensible skin	3/6	OMIM:619329
1289	COL5A1	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:287
1289	COL5A1	HP:0000974	Hyperextensible skin	-	OMIM:130000
1289	COL5A1	HP:0000938	Osteopenia	HP:0040282	ORPHA:287
1289	COL5A1	HP:0000286	Epicanthus	-	OMIM:130000
1289	COL5A1	HP:0000286	Epicanthus	HP:0040283	ORPHA:287
1289	COL5A1	HP:0000272	Malar flattening	1/6	OMIM:619329
1289	COL5A1	HP:0000268	Dolichocephaly	2/6	OMIM:619329
1289	COL5A1	HP:0005100	Premature birth following premature rupture of fetal membranes	-	OMIM:130000
1289	COL5A1	HP:0002829	Arthralgia	HP:0040283	ORPHA:287
1289	COL5A1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:287
1289	COL5A1	HP:0033981	Vertebral artery tortuosity	4/4	OMIM:619329
1289	COL5A1	HP:0033982	Celiac artery dissection	2/4	OMIM:619329
1289	COL5A1	HP:0000218	High palate	1/6	OMIM:619329
1289	COL5A1	HP:0030009	Cervical insufficiency	HP:0040283	ORPHA:287
1289	COL5A1	HP:0025509	Piezogenic pedal papules	HP:0040283	ORPHA:287
1289	COL5A1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:287
1289	COL5A1	HP:0001537	Umbilical hernia	-	OMIM:130000
1289	COL5A1	HP:0031364	Ecchymosis	HP:0040283	ORPHA:287
1289	COL5A1	HP:0012378	Fatigue	HP:0040282	ORPHA:287
1289	COL5A1	HP:0000394	Lop ear	-	OMIM:130000
1289	COL5A1	HP:0005222	Bowel diverticulosis	-	OMIM:130000
1289	COL5A1	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:287
1289	COL5A1	HP:0000347	Micrognathia	1/6	OMIM:619329
1289	COL5A1	HP:0001653	Mitral regurgitation	HP:0040284	ORPHA:287
1289	COL5A1	HP:0001622	Premature birth	HP:0040283	ORPHA:287
1289	COL5A1	HP:0001634	Mitral valve prolapse	HP:0040284	ORPHA:287
1289	COL5A1	HP:0001634	Mitral valve prolapse	-	OMIM:130000
1289	COL5A1	HP:0005302	Carotid artery tortuosity	2/4	OMIM:619329
1289	COL5A1	HP:0031653	Abnormal heart valve physiology	HP:0040283	ORPHA:287
1289	COL5A1	HP:0005313	Arterial fibromuscular dysplasia	4/4	OMIM:619329
1289	COL5A1	HP:0001704	Tricuspid valve prolapse	HP:0040284	ORPHA:287
1289	COL5A1	HP:0005294	Arterial dissection	HP:0040283	ORPHA:287
1289	COL5A1	HP:0000481	Abnormal cornea morphology	HP:0040283	ORPHA:287
1289	COL5A1	HP:0000494	Downslanted palpebral fissures	2/6	OMIM:619329
1289	COL5A1	HP:0000490	Deeply set eye	2/6	OMIM:619329
1289	COL5A1	HP:0000460	Narrow nose	3/6	OMIM:619329
1289	COL5A1	HP:0012450	Chronic constipation	HP:0040282	ORPHA:287
1289	COL5A1	HP:0001788	Premature rupture of membranes	HP:0040283	ORPHA:287
1289	COL5A1	HP:0011108	Recurrent sinusitis	3/10	OMIM:130000
1289	COL5A1	HP:0001763	Pes planus	HP:0040283	ORPHA:287
1289	COL5A1	HP:0001763	Pes planus	2/6	OMIM:619329
1289	COL5A1	HP:0001763	Pes planus	-	OMIM:130000
1289	COL5A1	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:287
1289	COL5A1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:287
1289	COL5A1	HP:0000592	Blue sclerae	1/6	OMIM:619329
1289	COL5A1	HP:0000592	Blue sclerae	-	OMIM:130000
1289	COL5A1	HP:0000545	Myopia	-	OMIM:130000
1290	COL5A2	HP:0003771	Pulp calcification	HP:0040282	ORPHA:287
1290	COL5A2	HP:0001278	Orthostatic hypotension	HP:0040284	ORPHA:287
1290	COL5A2	HP:0001270	Motor delay	HP:0040283	ORPHA:287
1290	COL5A2	HP:0001252	Hypotonia	HP:0040282	ORPHA:287
1290	COL5A2	HP:0003834	Shoulder dislocation	HP:0040283	ORPHA:287
1290	COL5A2	HP:0001374	Congenital hip dislocation	HP:0040284	OMIM:130010
1290	COL5A2	HP:0001386	Joint swelling	HP:0040283	ORPHA:287
1290	COL5A2	HP:0001382	Joint hypermobility	14/14	OMIM:130010
1290	COL5A2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:287
1290	COL5A2	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:287
1290	COL5A2	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:287
1290	COL5A2	HP:0001324	Muscle weakness	HP:0040282	ORPHA:287
1290	COL5A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:130010
1290	COL5A2	HP:0002650	Scoliosis	HP:0040283	ORPHA:287
1290	COL5A2	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:287
1290	COL5A2	HP:0000139	Uterine prolapse	HP:0040283	ORPHA:287
1290	COL5A2	HP:0006243	Phalangeal dislocation	HP:0040283	ORPHA:287
1290	COL5A2	HP:0002761	Generalized joint hypermobility	-	OMIM:130010
1290	COL5A2	HP:0002761	Generalized joint hypermobility	HP:0040281	ORPHA:287
1290	COL5A2	HP:0002758	Osteoarthritis	HP:0040283	ORPHA:287
1290	COL5A2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:287
1290	COL5A2	HP:0002018	Nausea	HP:0040282	ORPHA:287
1290	COL5A2	HP:0002036	Hiatus hernia	HP:0040283	ORPHA:287
1290	COL5A2	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:287
1290	COL5A2	HP:0002013	Vomiting	HP:0040282	ORPHA:287
1290	COL5A2	HP:0003394	Muscle spasm	HP:0040282	ORPHA:287
1290	COL5A2	HP:0002105	Hemoptysis	2/6	OMIM:130010
1290	COL5A2	HP:0004872	Incisional hernia	HP:0040283	ORPHA:287
1290	COL5A2	HP:0100790	Hernia	-	OMIM:130010
1290	COL5A2	HP:0001058	Poor wound healing	HP:0040282	ORPHA:287
1290	COL5A2	HP:0025019	Arterial rupture	HP:0040283	ORPHA:287
1290	COL5A2	HP:0001063	Acrocyanosis	HP:0040283	ORPHA:287
1290	COL5A2	HP:0025014	Subcutaneous spheroids	HP:0040283	ORPHA:287
1290	COL5A2	HP:0025014	Subcutaneous spheroids	12/14	OMIM:130010
1290	COL5A2	HP:0001065	Striae distensae	HP:0040281	ORPHA:287
1290	COL5A2	HP:0001030	Fragile skin	-	OMIM:130010
1290	COL5A2	HP:0001030	Fragile skin	HP:0040281	ORPHA:287
1290	COL5A2	HP:0001027	Soft, doughy skin	HP:0040281	ORPHA:287
1290	COL5A2	HP:0001027	Soft, doughy skin	-	OMIM:130010
1290	COL5A2	HP:0002315	Headache	HP:0040284	ORPHA:287
1290	COL5A2	HP:0001073	Cigarette-paper scars	HP:0040281	ORPHA:287
1290	COL5A2	HP:0001073	Cigarette-paper scars	-	OMIM:130010
1290	COL5A2	HP:0001075	Atrophic scars	4/4	OMIM:130010
1290	COL5A2	HP:0001075	Atrophic scars	HP:0040281	ORPHA:287
1290	COL5A2	HP:0010750	Dermatochalasis	HP:0040283	ORPHA:287
1290	COL5A2	HP:0010754	Abnormality of the temporomandibular joint	HP:0040283	ORPHA:287
1290	COL5A2	HP:0010749	Blepharochalasis	HP:0040283	ORPHA:287
1290	COL5A2	HP:0009763	Limb pain	HP:0040283	ORPHA:287
1290	COL5A2	HP:0004947	Arteriovenous fistula	HP:0040283	ORPHA:287
1290	COL5A2	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:287
1290	COL5A2	HP:0031869	Recurrent joint dislocation	3/4	OMIM:130010
1290	COL5A2	HP:0003083	Dislocated radial head	HP:0040283	ORPHA:287
1290	COL5A2	HP:0003010	Prolonged bleeding time	HP:0040283	ORPHA:287
1290	COL5A2	HP:0000993	Molluscoid pseudotumors	HP:0040283	ORPHA:287
1290	COL5A2	HP:0000993	Molluscoid pseudotumors	12/14	OMIM:130010
1290	COL5A2	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:287
1290	COL5A2	HP:0000978	Bruising susceptibility	-	OMIM:130010
1290	COL5A2	HP:0000977	Soft skin	4/4	OMIM:130010
1290	COL5A2	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:287
1290	COL5A2	HP:0000974	Hyperextensible skin	-	OMIM:130010
1290	COL5A2	HP:0000938	Osteopenia	HP:0040282	ORPHA:287
1290	COL5A2	HP:0000286	Epicanthus	-	OMIM:130010
1290	COL5A2	HP:0000286	Epicanthus	HP:0040283	ORPHA:287
1290	COL5A2	HP:0002829	Arthralgia	HP:0040283	ORPHA:287
1290	COL5A2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:287
1290	COL5A2	HP:0030009	Cervical insufficiency	HP:0040283	ORPHA:287
1290	COL5A2	HP:0025509	Piezogenic pedal papules	HP:0040283	ORPHA:287
1290	COL5A2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:287
1290	COL5A2	HP:0031364	Ecchymosis	HP:0040283	ORPHA:287
1290	COL5A2	HP:0012378	Fatigue	HP:0040282	ORPHA:287
1290	COL5A2	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:287
1290	COL5A2	HP:0001653	Mitral regurgitation	HP:0040284	ORPHA:287
1290	COL5A2	HP:0001622	Premature birth	HP:0040283	ORPHA:287
1290	COL5A2	HP:0001634	Mitral valve prolapse	HP:0040284	ORPHA:287
1290	COL5A2	HP:0031653	Abnormal heart valve physiology	HP:0040283	ORPHA:287
1290	COL5A2	HP:0001704	Tricuspid valve prolapse	HP:0040284	ORPHA:287
1290	COL5A2	HP:0005294	Arterial dissection	HP:0040283	ORPHA:287
1290	COL5A2	HP:0000481	Abnormal cornea morphology	HP:0040283	ORPHA:287
1290	COL5A2	HP:0012450	Chronic constipation	HP:0040282	ORPHA:287
1290	COL5A2	HP:0001788	Premature rupture of membranes	HP:0040283	ORPHA:287
1290	COL5A2	HP:0011108	Recurrent sinusitis	2/6	OMIM:130010
1290	COL5A2	HP:0001763	Pes planus	HP:0040283	ORPHA:287
1290	COL5A2	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:287
1290	COL5A2	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:287
1290	COL5A2	HP:0001762	Talipes equinovarus	HP:0040284	OMIM:130010
1291	COL6A1	HP:0001181	Adducted thumb	HP:0040282	ORPHA:75840
1291	COL6A1	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:610
1291	COL6A1	HP:0002460	Distal muscle weakness	3/4	OMIM:158810
1291	COL6A1	HP:0003731	Quadriceps muscle weakness	HP:0040282	ORPHA:610
1291	COL6A1	HP:0003724	Shoulder girdle muscle atrophy	1/1	OMIM:158810
1291	COL6A1	HP:0003701	Proximal muscle weakness	-	OMIM:254090
1291	COL6A1	HP:0003701	Proximal muscle weakness	4/4	OMIM:158810
1291	COL6A1	HP:0003700	Generalized amyotrophy	-	OMIM:254090
1291	COL6A1	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:75840
1291	COL6A1	HP:0003700	Generalized amyotrophy	HP:0040283	ORPHA:610
1291	COL6A1	HP:0003713	Muscle fiber necrosis	-	OMIM:254090
1291	COL6A1	HP:0003713	Muscle fiber necrosis	1/1	OMIM:158810
1291	COL6A1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:75840
1291	COL6A1	HP:0001270	Motor delay	-	OMIM:254090
1291	COL6A1	HP:0001270	Motor delay	1/1	OMIM:158810
1291	COL6A1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:610
1291	COL6A1	HP:0001284	Areflexia	1/1	OMIM:158810
1291	COL6A1	HP:0001249	Intellectual disability	0/1	OMIM:158810
1291	COL6A1	HP:0001249	Intellectual disability	0/12	OMIM:254090
1291	COL6A1	HP:0001239	Wrist flexion contracture	HP:0040282	ORPHA:610
1291	COL6A1	HP:0001238	Slender finger	HP:0040282	ORPHA:75840
1291	COL6A1	HP:0033685	Fiber type grouping	1/1	OMIM:158810
1291	COL6A1	HP:0001220	Interphalangeal joint contracture of finger	HP:0040282	ORPHA:610
1291	COL6A1	HP:0002515	Waddling gait	HP:0040283	ORPHA:610
1291	COL6A1	HP:0003828	Variable expressivity	-	OMIM:254090
1291	COL6A1	HP:0003805	Rimmed vacuoles	HP:0040283	ORPHA:610
1291	COL6A1	HP:0003803	Type 1 muscle fiber predominance	-	OMIM:254090
1291	COL6A1	HP:0000093	Proteinuria	1/1	OMIM:158810
1291	COL6A1	HP:0001374	Congenital hip dislocation	0/1	OMIM:158810
1291	COL6A1	HP:0001371	Flexion contracture	HP:0040281	ORPHA:75840
1291	COL6A1	HP:0001371	Flexion contracture	-	OMIM:254090
1291	COL6A1	HP:0001371	Flexion contracture	HP:0040281	ORPHA:610
1291	COL6A1	HP:0001382	Joint hypermobility	12/12	OMIM:254090
1291	COL6A1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:610
1291	COL6A1	HP:0008872	Feeding difficulties in infancy	-	OMIM:254090
1291	COL6A1	HP:0007502	Follicular hyperkeratosis	-	OMIM:254090
1291	COL6A1	HP:0007502	Follicular hyperkeratosis	1/1	OMIM:158810
1291	COL6A1	HP:0006149	Increased laxity of fingers	-	OMIM:254090
1291	COL6A1	HP:0006149	Increased laxity of fingers	HP:0040281	ORPHA:75840
1291	COL6A1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:610
1291	COL6A1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:75840
1291	COL6A1	HP:0000010	Recurrent urinary tract infections	0/1	OMIM:158810
1291	COL6A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:158810
1291	COL6A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:254090
1291	COL6A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:158810
1291	COL6A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:254090
1291	COL6A1	HP:0002650	Scoliosis	12/15	OMIM:254090
1291	COL6A1	HP:0002650	Scoliosis	1/3	OMIM:158810
1291	COL6A1	HP:0002650	Scoliosis	HP:0040282	ORPHA:75840
1291	COL6A1	HP:0002650	Scoliosis	HP:0040283	ORPHA:610
1291	COL6A1	HP:0001319	Neonatal hypotonia	-	OMIM:254090
1291	COL6A1	HP:0001319	Neonatal hypotonia	-	OMIM:158810
1291	COL6A1	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:75840
1291	COL6A1	HP:0008944	Distal lower limb amyotrophy	1/1	OMIM:158810
1291	COL6A1	HP:0002783	Recurrent lower respiratory tract infections	-	OMIM:254090
1291	COL6A1	HP:0002791	Hypoventilation	HP:0040283	ORPHA:610
1291	COL6A1	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:254090
1291	COL6A1	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:158810
1291	COL6A1	HP:0003327	Axial muscle weakness	1/1	OMIM:158810
1291	COL6A1	HP:0003327	Axial muscle weakness	HP:0040283	ORPHA:610
1291	COL6A1	HP:0005988	Congenital muscular torticollis	-	OMIM:158810
1291	COL6A1	HP:0003325	Limb-girdle muscle weakness	-	OMIM:158810
1291	COL6A1	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:610
1291	COL6A1	HP:0003306	Spinal rigidity	15/15	OMIM:254090
1291	COL6A1	HP:0003306	Spinal rigidity	HP:0040281	ORPHA:75840
1291	COL6A1	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:610
1291	COL6A1	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:75840
1291	COL6A1	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:610
1291	COL6A1	HP:0002093	Respiratory insufficiency	-	OMIM:254090
1291	COL6A1	HP:0003391	Gowers sign	HP:0040283	ORPHA:610
1291	COL6A1	HP:0008180	Mildly elevated creatine kinase	-	OMIM:254090
1291	COL6A1	HP:0008180	Mildly elevated creatine kinase	2/4	OMIM:158810
1291	COL6A1	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:75840
1291	COL6A1	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:610
1291	COL6A1	HP:0003458	EMG: myopathic abnormalities	1/1	OMIM:158810
1291	COL6A1	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:610
1291	COL6A1	HP:0100490	Camptodactyly of finger	-	OMIM:158810
1291	COL6A1	HP:0010511	Long toe	HP:0040282	ORPHA:75840
1291	COL6A1	HP:0003593	Infantile onset	-	OMIM:254090
1291	COL6A1	HP:0003551	Difficulty climbing stairs	1/1	OMIM:158810
1291	COL6A1	HP:0003560	Muscular dystrophy	-	OMIM:254090
1291	COL6A1	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:610
1291	COL6A1	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:254090
1291	COL6A1	HP:0003557	Increased variability in muscle fiber diameter	HP:0040281	ORPHA:75840
1291	COL6A1	HP:0034671	Knee contracture	0/3	OMIM:158810
1291	COL6A1	HP:0034677	Ankle contracture	3/4	OMIM:158810
1291	COL6A1	HP:0034681	Finger joint contracture	2/3	OMIM:158810
1291	COL6A1	HP:0010628	Facial palsy	-	OMIM:254090
1291	COL6A1	HP:0003691	Scapular winging	HP:0040283	ORPHA:610
1291	COL6A1	HP:0002359	Frequent falls	HP:0040282	ORPHA:75840
1291	COL6A1	HP:0003676	Progressive	-	OMIM:254090
1291	COL6A1	HP:0003687	Centrally nucleated skeletal muscle fibers	1/1	OMIM:158810
1291	COL6A1	HP:0003677	Slowly progressive	-	OMIM:158810
1291	COL6A1	HP:0001073	Cigarette-paper scars	HP:0040283	ORPHA:610
1291	COL6A1	HP:0032152	Keratosis pilaris	1/1	OMIM:158810
1291	COL6A1	HP:0032152	Keratosis pilaris	HP:0040283	ORPHA:610
1291	COL6A1	HP:0020152	Distal joint hypermobility	-	OMIM:254090
1291	COL6A1	HP:0009073	Progressive proximal muscle weakness	HP:0040281	ORPHA:610
1291	COL6A1	HP:0009058	Increased muscle lipid content	HP:0040282	ORPHA:610
1291	COL6A1	HP:0009046	Difficulty running	1/2	OMIM:158810
1291	COL6A1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:610
1291	COL6A1	HP:0004303	Abnormal muscle fiber morphology	HP:0040281	ORPHA:75840
1291	COL6A1	HP:0031910	Abnormal cranial nerve physiology	0/1	OMIM:158810
1291	COL6A1	HP:0010176	Curved toe phalanx	HP:0040283	ORPHA:610
1291	COL6A1	HP:0011463	Childhood onset	1/1	OMIM:158810
1291	COL6A1	HP:0009113	Diaphragmatic weakness	HP:0040282	ORPHA:75840
1291	COL6A1	HP:0003115	Abnormal EKG	0/1	OMIM:158810
1291	COL6A1	HP:0040129	Abnormal nerve conduction velocity	0/1	OMIM:158810
1291	COL6A1	HP:0003198	Myopathy	-	OMIM:158810
1291	COL6A1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:610
1291	COL6A1	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:158810
1291	COL6A1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:75840
1291	COL6A1	HP:0003202	Skeletal muscle atrophy	-	OMIM:158810
1291	COL6A1	HP:0034391	Elbow contracture	3/3	OMIM:158810
1291	COL6A1	HP:0000975	Hyperhidrosis	-	OMIM:254090
1291	COL6A1	HP:0000988	Skin rash	0/1	OMIM:158810
1291	COL6A1	HP:0000962	Hyperkeratosis	HP:0040283	ORPHA:610
1291	COL6A1	HP:0008081	Pes valgus	HP:0040282	ORPHA:75840
1291	COL6A1	HP:0100297	Increased endomysial connective tissue	HP:0040281	ORPHA:75840
1291	COL6A1	HP:0006460	Increased laxity of ankles	-	OMIM:254090
1291	COL6A1	HP:0006466	Ankle flexion contracture	HP:0040282	ORPHA:610
1291	COL6A1	HP:0002829	Arthralgia	0/1	OMIM:158810
1291	COL6A1	HP:0002827	Hip dislocation	HP:0040282	ORPHA:75840
1291	COL6A1	HP:0002827	Hip dislocation	-	OMIM:254090
1291	COL6A1	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:610
1291	COL6A1	HP:0005072	Wrist hypermobility	-	OMIM:254090
1291	COL6A1	HP:0005072	Wrist hypermobility	HP:0040281	ORPHA:75840
1291	COL6A1	HP:0002808	Kyphosis	-	OMIM:254090
1291	COL6A1	HP:0002808	Kyphosis	1/3	OMIM:158810
1291	COL6A1	HP:0002808	Kyphosis	HP:0040281	ORPHA:75840
1291	COL6A1	HP:0002804	Arthrogryposis multiplex congenita	0/1	OMIM:158810
1291	COL6A1	HP:0030095	Reduced muscle collagen VI	6/11	OMIM:254090
1291	COL6A1	HP:0030095	Reduced muscle collagen VI	HP:0040281	ORPHA:610
1291	COL6A1	HP:0006380	Knee flexion contracture	HP:0040282	ORPHA:75840
1291	COL6A1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:75840
1291	COL6A1	HP:0000218	High palate	-	OMIM:254090
1291	COL6A1	HP:0002877	Nocturnal hypoventilation	-	OMIM:254090
1291	COL6A1	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:75840
1291	COL6A1	HP:0001558	Decreased fetal movement	1/1	OMIM:158810
1291	COL6A1	HP:0001533	Slender build	-	OMIM:254090
1291	COL6A1	HP:0001508	Failure to thrive	-	OMIM:254090
1291	COL6A1	HP:0030051	Tip-toe gait	1/1	OMIM:158810
1291	COL6A1	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:610
1291	COL6A1	HP:0000347	Micrognathia	HP:0040282	ORPHA:75840
1291	COL6A1	HP:0000311	Round face	-	OMIM:254090
1291	COL6A1	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:75840
1291	COL6A1	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:610
1291	COL6A1	HP:0001626	Abnormality of the cardiovascular system	-	OMIM:158810
1291	COL6A1	HP:0012497	Reduced maximal expiratory pressure	HP:0040283	ORPHA:610
1291	COL6A1	HP:0000473	Torticollis	-	OMIM:254090
1291	COL6A1	HP:0000473	Torticollis	HP:0040282	ORPHA:75840
1291	COL6A1	HP:0000473	Torticollis	-	OMIM:158810
1291	COL6A1	HP:0000470	Short neck	HP:0040282	ORPHA:75840
1291	COL6A1	HP:0000467	Neck muscle weakness	HP:0040282	ORPHA:610
1291	COL6A1	HP:0000467	Neck muscle weakness	1/1	OMIM:158810
1291	COL6A1	HP:0001771	Achilles tendon contracture	HP:0040283	ORPHA:610
1291	COL6A1	HP:0000411	Protruding ear	-	OMIM:254090
1291	COL6A1	HP:0001762	Talipes equinovarus	-	OMIM:254090
1291	COL6A1	HP:0001761	Pes cavus	1/1	OMIM:158810
1291	COL6A1	HP:0012587	Macroscopic hematuria	1/1	OMIM:158810
1291	COL6A1	HP:0012548	Fatty replacement of skeletal muscle	1/1	OMIM:158810
1291	COL6A1	HP:0000565	Esotropia	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0001181	Adducted thumb	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0001181	Adducted thumb	1/7	OMIM:620727
1292	COL6A2	HP:0002460	Distal muscle weakness	6/9	OMIM:620725
1292	COL6A2	HP:0002460	Distal muscle weakness	-	OMIM:255600
1292	COL6A2	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:610
1292	COL6A2	HP:0003731	Quadriceps muscle weakness	HP:0040282	ORPHA:610
1292	COL6A2	HP:0003722	Neck flexor weakness	1/1	OMIM:620727
1292	COL6A2	HP:0003701	Proximal muscle weakness	2/2	OMIM:620727
1292	COL6A2	HP:0003701	Proximal muscle weakness	11/11	OMIM:620725
1292	COL6A2	HP:0003701	Proximal muscle weakness	-	OMIM:255600
1292	COL6A2	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0003700	Generalized amyotrophy	HP:0040283	ORPHA:610
1292	COL6A2	HP:0003713	Muscle fiber necrosis	1/1	OMIM:620727
1292	COL6A2	HP:0003713	Muscle fiber necrosis	2/2	OMIM:620725
1292	COL6A2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0100807	Long fingers	1/7	OMIM:620727
1292	COL6A2	HP:0001270	Motor delay	3/3	OMIM:620727
1292	COL6A2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:610
1292	COL6A2	HP:0001252	Hypotonia	5/5	OMIM:620727
1292	COL6A2	HP:0001249	Intellectual disability	0/2	OMIM:620727
1292	COL6A2	HP:0001239	Wrist flexion contracture	HP:0040282	ORPHA:610
1292	COL6A2	HP:0001238	Slender finger	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0001220	Interphalangeal joint contracture of finger	5/9	OMIM:620725
1292	COL6A2	HP:0001220	Interphalangeal joint contracture of finger	HP:0040282	ORPHA:610
1292	COL6A2	HP:0002515	Waddling gait	HP:0040283	ORPHA:610
1292	COL6A2	HP:0006094	Finger joint hypermobility	7/7	OMIM:620727
1292	COL6A2	HP:0032341	Reduced forced vital capacity	-	OMIM:255600
1292	COL6A2	HP:0003805	Rimmed vacuoles	HP:0040283	ORPHA:610
1292	COL6A2	HP:0001371	Flexion contracture	HP:0040281	ORPHA:75840
1292	COL6A2	HP:0001371	Flexion contracture	HP:0040281	ORPHA:610
1292	COL6A2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:610
1292	COL6A2	HP:0012084	Abnormality of skeletal muscle fiber size	2/2	OMIM:620725
1292	COL6A2	HP:0006149	Increased laxity of fingers	HP:0040281	ORPHA:75840
1292	COL6A2	HP:0001324	Muscle weakness	1/1	OMIM:620727
1292	COL6A2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:610
1292	COL6A2	HP:0001324	Muscle weakness	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620727
1292	COL6A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:255600
1292	COL6A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:620725
1292	COL6A2	HP:0002650	Scoliosis	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0002650	Scoliosis	3/7	OMIM:620727
1292	COL6A2	HP:0002650	Scoliosis	HP:0040283	ORPHA:610
1292	COL6A2	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:75840
1292	COL6A2	HP:0002783	Recurrent lower respiratory tract infections	1/7	OMIM:620727
1292	COL6A2	HP:0002791	Hypoventilation	HP:0040283	ORPHA:610
1292	COL6A2	HP:0005997	Neck joint contracture	-	OMIM:255600
1292	COL6A2	HP:0003327	Axial muscle weakness	HP:0040283	ORPHA:610
1292	COL6A2	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:610
1292	COL6A2	HP:0003306	Spinal rigidity	HP:0040281	ORPHA:75840
1292	COL6A2	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:610
1292	COL6A2	HP:0003306	Spinal rigidity	3/7	OMIM:620727
1292	COL6A2	HP:0003306	Spinal rigidity	1/2	OMIM:620725
1292	COL6A2	HP:0003306	Spinal rigidity	-	OMIM:255600
1292	COL6A2	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:75840
1292	COL6A2	HP:0003324	Generalized muscle weakness	3/6	OMIM:620727
1292	COL6A2	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:610
1292	COL6A2	HP:0003391	Gowers sign	HP:0040283	ORPHA:610
1292	COL6A2	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:75840
1292	COL6A2	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:610
1292	COL6A2	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:610
1292	COL6A2	HP:0010511	Long toe	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0003593	Infantile onset	2/3	OMIM:620727
1292	COL6A2	HP:0003593	Infantile onset	1/9	OMIM:620725
1292	COL6A2	HP:0003577	Congenital onset	2/3	OMIM:620727
1292	COL6A2	HP:0003581	Adult onset	3/9	OMIM:620725
1292	COL6A2	HP:0003555	Muscle fiber splitting	2/2	OMIM:620725
1292	COL6A2	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:610
1292	COL6A2	HP:0003557	Increased variability in muscle fiber diameter	HP:0040281	ORPHA:75840
1292	COL6A2	HP:0003557	Increased variability in muscle fiber diameter	4/4	OMIM:620727
1292	COL6A2	HP:0034665	Shoulder contracture	1/1	OMIM:620727
1292	COL6A2	HP:0034671	Knee contracture	6/7	OMIM:620727
1292	COL6A2	HP:0034671	Knee contracture	5/11	OMIM:620725
1292	COL6A2	HP:0034677	Ankle contracture	1/1	OMIM:620727
1292	COL6A2	HP:0034677	Ankle contracture	4/11	OMIM:620725
1292	COL6A2	HP:0010628	Facial palsy	1/2	OMIM:255600
1292	COL6A2	HP:0020045	Esodeviation	1/2	OMIM:620727
1292	COL6A2	HP:0003691	Scapular winging	HP:0040283	ORPHA:610
1292	COL6A2	HP:0002359	Frequent falls	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0003676	Progressive	-	OMIM:255600
1292	COL6A2	HP:0003687	Centrally nucleated skeletal muscle fibers	1/1	OMIM:620727
1292	COL6A2	HP:0003687	Centrally nucleated skeletal muscle fibers	2/2	OMIM:620725
1292	COL6A2	HP:0001073	Cigarette-paper scars	HP:0040283	ORPHA:610
1292	COL6A2	HP:0032152	Keratosis pilaris	HP:0040283	ORPHA:610
1292	COL6A2	HP:0003623	Neonatal onset	2/3	OMIM:620727
1292	COL6A2	HP:0009073	Progressive proximal muscle weakness	HP:0040281	ORPHA:610
1292	COL6A2	HP:0009058	Increased muscle lipid content	HP:0040282	ORPHA:610
1292	COL6A2	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:610
1292	COL6A2	HP:0004322	Short stature	1/2	OMIM:255600
1292	COL6A2	HP:0004303	Abnormal muscle fiber morphology	HP:0040281	ORPHA:75840
1292	COL6A2	HP:0030674	Antenatal onset	1/2	OMIM:620727
1292	COL6A2	HP:0031936	Delayed ability to walk	2/2	OMIM:620727
1292	COL6A2	HP:0010176	Curved toe phalanx	HP:0040283	ORPHA:610
1292	COL6A2	HP:0011463	Childhood onset	5/9	OMIM:620725
1292	COL6A2	HP:0011463	Childhood onset	2/2	OMIM:255600
1292	COL6A2	HP:0009113	Diaphragmatic weakness	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0003236	Elevated circulating creatine kinase concentration	3/4	OMIM:620727
1292	COL6A2	HP:0003236	Elevated circulating creatine kinase concentration	9/9	OMIM:620725
1292	COL6A2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:610
1292	COL6A2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:75840
1292	COL6A2	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:255600
1292	COL6A2	HP:0003202	Skeletal muscle atrophy	2/2	OMIM:620727
1292	COL6A2	HP:0003202	Skeletal muscle atrophy	-	OMIM:255600
1292	COL6A2	HP:0034391	Elbow contracture	6/7	OMIM:620727
1292	COL6A2	HP:0034391	Elbow contracture	2/2	OMIM:620725
1292	COL6A2	HP:0003273	Hip contracture	1/1	OMIM:620727
1292	COL6A2	HP:0000962	Hyperkeratosis	HP:0040283	ORPHA:610
1292	COL6A2	HP:0008081	Pes valgus	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0008081	Pes valgus	1/7	OMIM:620727
1292	COL6A2	HP:0100297	Increased endomysial connective tissue	3/3	OMIM:620727
1292	COL6A2	HP:0100297	Increased endomysial connective tissue	2/2	OMIM:620725
1292	COL6A2	HP:0100297	Increased endomysial connective tissue	HP:0040281	ORPHA:75840
1292	COL6A2	HP:0006466	Ankle flexion contracture	HP:0040282	ORPHA:610
1292	COL6A2	HP:0002827	Hip dislocation	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0002827	Hip dislocation	4/7	OMIM:620727
1292	COL6A2	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:610
1292	COL6A2	HP:0005072	Wrist hypermobility	HP:0040281	ORPHA:75840
1292	COL6A2	HP:0002808	Kyphosis	2/6	OMIM:620727
1292	COL6A2	HP:0002808	Kyphosis	HP:0040281	ORPHA:75840
1292	COL6A2	HP:0030095	Reduced muscle collagen VI	1/1	OMIM:620727
1292	COL6A2	HP:0030095	Reduced muscle collagen VI	HP:0040281	ORPHA:610
1292	COL6A2	HP:0006380	Knee flexion contracture	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0002878	Respiratory failure	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0002878	Respiratory failure	1/1	OMIM:620727
1292	COL6A2	HP:0000218	High palate	3/7	OMIM:620727
1292	COL6A2	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0001558	Decreased fetal movement	1/7	OMIM:620727
1292	COL6A2	HP:0002938	Lumbar hyperlordosis	-	OMIM:255600
1292	COL6A2	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:610
1292	COL6A2	HP:0002944	Thoracolumbar scoliosis	-	OMIM:255600
1292	COL6A2	HP:0000347	Micrognathia	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0000347	Micrognathia	1/1	OMIM:620727
1292	COL6A2	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:610
1292	COL6A2	HP:0012497	Reduced maximal expiratory pressure	HP:0040283	ORPHA:610
1292	COL6A2	HP:0000473	Torticollis	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0000473	Torticollis	2/7	OMIM:620727
1292	COL6A2	HP:0000470	Short neck	1/7	OMIM:620727
1292	COL6A2	HP:0000470	Short neck	HP:0040282	ORPHA:75840
1292	COL6A2	HP:0000467	Neck muscle weakness	HP:0040282	ORPHA:610
1292	COL6A2	HP:0001771	Achilles tendon contracture	HP:0040283	ORPHA:610
1292	COL6A2	HP:0001771	Achilles tendon contracture	2/2	OMIM:255600
1292	COL6A2	HP:0000565	Esotropia	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0001181	Adducted thumb	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:610
1293	COL6A3	HP:0002451	Limb dystonia	2/5	OMIM:616411
1293	COL6A3	HP:0002451	Limb dystonia	HP:0040282	ORPHA:464440
1293	COL6A3	HP:0003749	Pelvic girdle muscle weakness	5/5	OMIM:620728
1293	COL6A3	HP:0003731	Quadriceps muscle weakness	HP:0040282	ORPHA:610
1293	COL6A3	HP:0003722	Neck flexor weakness	5/5	OMIM:620728
1293	COL6A3	HP:0003701	Proximal muscle weakness	1/2	OMIM:620726
1293	COL6A3	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0003700	Generalized amyotrophy	HP:0040283	ORPHA:610
1293	COL6A3	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0001270	Motor delay	1/2	OMIM:620726
1293	COL6A3	HP:0001288	Gait disturbance	HP:0040282	ORPHA:610
1293	COL6A3	HP:0001252	Hypotonia	5/5	OMIM:620728
1293	COL6A3	HP:0001239	Wrist flexion contracture	HP:0040282	ORPHA:610
1293	COL6A3	HP:0001238	Slender finger	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0007351	Upper limb postural tremor	HP:0040282	ORPHA:464440
1293	COL6A3	HP:0001220	Interphalangeal joint contracture of finger	HP:0040282	ORPHA:610
1293	COL6A3	HP:0002515	Waddling gait	HP:0040283	ORPHA:610
1293	COL6A3	HP:0002530	Axial dystonia	HP:0040282	ORPHA:464440
1293	COL6A3	HP:0003805	Rimmed vacuoles	HP:0040283	ORPHA:610
1293	COL6A3	HP:0012048	Oromandibular dystonia	3/5	OMIM:616411
1293	COL6A3	HP:0012048	Oromandibular dystonia	HP:0040281	ORPHA:464440
1293	COL6A3	HP:0012049	Laryngeal dystonia	2/5	OMIM:616411
1293	COL6A3	HP:0012049	Laryngeal dystonia	HP:0040281	ORPHA:464440
1293	COL6A3	HP:0001374	Congenital hip dislocation	1/5	OMIM:620728
1293	COL6A3	HP:0001371	Flexion contracture	HP:0040281	ORPHA:75840
1293	COL6A3	HP:0001371	Flexion contracture	HP:0040281	ORPHA:610
1293	COL6A3	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:610
1293	COL6A3	HP:0006149	Increased laxity of fingers	HP:0040281	ORPHA:75840
1293	COL6A3	HP:0001324	Muscle weakness	2/2	OMIM:620726
1293	COL6A3	HP:0001324	Muscle weakness	HP:0040281	ORPHA:610
1293	COL6A3	HP:0001324	Muscle weakness	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:616411
1293	COL6A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:620728
1293	COL6A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:620726
1293	COL6A3	HP:0002650	Scoliosis	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0002650	Scoliosis	HP:0040283	ORPHA:610
1293	COL6A3	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:75840
1293	COL6A3	HP:0002791	Hypoventilation	HP:0040283	ORPHA:610
1293	COL6A3	HP:0002751	Kyphoscoliosis	2/5	OMIM:620728
1293	COL6A3	HP:0003327	Axial muscle weakness	HP:0040283	ORPHA:610
1293	COL6A3	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:610
1293	COL6A3	HP:0003306	Spinal rigidity	HP:0040281	ORPHA:75840
1293	COL6A3	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:610
1293	COL6A3	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:75840
1293	COL6A3	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:610
1293	COL6A3	HP:0003391	Gowers sign	HP:0040283	ORPHA:610
1293	COL6A3	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:75840
1293	COL6A3	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:610
1293	COL6A3	HP:0002174	Postural tremor	2/5	OMIM:616411
1293	COL6A3	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:610
1293	COL6A3	HP:0010511	Long toe	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0003577	Congenital onset	2/5	OMIM:620728
1293	COL6A3	HP:0003547	Shoulder girdle muscle weakness	5/5	OMIM:620728
1293	COL6A3	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:610
1293	COL6A3	HP:0003557	Increased variability in muscle fiber diameter	HP:0040281	ORPHA:75840
1293	COL6A3	HP:0034671	Knee contracture	4/5	OMIM:620728
1293	COL6A3	HP:0034677	Ankle contracture	4/5	OMIM:620728
1293	COL6A3	HP:0003691	Scapular winging	HP:0040283	ORPHA:610
1293	COL6A3	HP:0002359	Frequent falls	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0002345	Action tremor	1/5	OMIM:616411
1293	COL6A3	HP:0002345	Action tremor	HP:0040282	ORPHA:464440
1293	COL6A3	HP:0002356	Writer's cramp	4/5	OMIM:616411
1293	COL6A3	HP:0002356	Writer's cramp	HP:0040282	ORPHA:464440
1293	COL6A3	HP:0001073	Cigarette-paper scars	HP:0040283	ORPHA:610
1293	COL6A3	HP:0032152	Keratosis pilaris	HP:0040283	ORPHA:610
1293	COL6A3	HP:0003623	Neonatal onset	3/5	OMIM:620728
1293	COL6A3	HP:0003621	Juvenile onset	1/5	OMIM:616411
1293	COL6A3	HP:0020152	Distal joint hypermobility	5/5	OMIM:620728
1293	COL6A3	HP:0009073	Progressive proximal muscle weakness	HP:0040281	ORPHA:610
1293	COL6A3	HP:0009058	Increased muscle lipid content	HP:0040282	ORPHA:610
1293	COL6A3	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:610
1293	COL6A3	HP:0004303	Abnormal muscle fiber morphology	HP:0040281	ORPHA:75840
1293	COL6A3	HP:0004373	Focal dystonia	HP:0040282	ORPHA:464440
1293	COL6A3	HP:0031936	Delayed ability to walk	4/5	OMIM:620728
1293	COL6A3	HP:0010176	Curved toe phalanx	HP:0040283	ORPHA:610
1293	COL6A3	HP:0011462	Young adult onset	4/5	OMIM:616411
1293	COL6A3	HP:0009113	Diaphragmatic weakness	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0003236	Elevated circulating creatine kinase concentration	2/5	OMIM:620728
1293	COL6A3	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:610
1293	COL6A3	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:75840
1293	COL6A3	HP:0034392	Joint contracture	1/2	OMIM:620726
1293	COL6A3	HP:0003273	Hip contracture	5/5	OMIM:620728
1293	COL6A3	HP:0000962	Hyperkeratosis	HP:0040283	ORPHA:610
1293	COL6A3	HP:0008081	Pes valgus	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0100297	Increased endomysial connective tissue	HP:0040281	ORPHA:75840
1293	COL6A3	HP:0006466	Ankle flexion contracture	HP:0040282	ORPHA:610
1293	COL6A3	HP:0002827	Hip dislocation	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:610
1293	COL6A3	HP:0005072	Wrist hypermobility	HP:0040281	ORPHA:75840
1293	COL6A3	HP:0002808	Kyphosis	1/2	OMIM:620726
1293	COL6A3	HP:0002808	Kyphosis	HP:0040281	ORPHA:75840
1293	COL6A3	HP:0030095	Reduced muscle collagen VI	HP:0040281	ORPHA:610
1293	COL6A3	HP:0006380	Knee flexion contracture	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0002878	Respiratory failure	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0030043	Hip subluxation	0/5	OMIM:620728
1293	COL6A3	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:610
1293	COL6A3	HP:0000347	Micrognathia	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:610
1293	COL6A3	HP:0012497	Reduced maximal expiratory pressure	HP:0040283	ORPHA:610
1293	COL6A3	HP:0000473	Torticollis	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0000473	Torticollis	2/5	OMIM:620728
1293	COL6A3	HP:0000473	Torticollis	5/5	OMIM:616411
1293	COL6A3	HP:0000470	Short neck	HP:0040282	ORPHA:75840
1293	COL6A3	HP:0000467	Neck muscle weakness	HP:0040282	ORPHA:610
1293	COL6A3	HP:0001771	Achilles tendon contracture	HP:0040283	ORPHA:610
1293	COL6A3	HP:0000565	Esotropia	HP:0040282	ORPHA:75840
1294	COL7A1	HP:0003764	Nevus	HP:0040283	ORPHA:89842
1294	COL7A1	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:79410
1294	COL7A1	HP:0007446	Palmoplantar blistering	HP:0040283	ORPHA:79409
1294	COL7A1	HP:0007446	Palmoplantar blistering	HP:0040282	ORPHA:79410
1294	COL7A1	HP:0007400	Irregular hyperpigmentation	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0031045	Acral blistering	HP:0040282	ORPHA:231568
1294	COL7A1	HP:0031045	Acral blistering	HP:0040282	ORPHA:158673
1294	COL7A1	HP:0007383	Congenital localized absence of skin	-	OMIM:132000
1294	COL7A1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0000099	Glomerulonephritis	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0012056	Cutaneous melanoma	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0012056	Cutaneous melanoma	-	ORPHA:79409
1294	COL7A1	HP:0012056	Cutaneous melanoma	-	ORPHA:79410
1294	COL7A1	HP:0012056	Cutaneous melanoma	-	ORPHA:79411
1294	COL7A1	HP:0000079	Abnormality of the urinary system	HP:0040284	ORPHA:79408
1294	COL7A1	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:79409
1294	COL7A1	HP:0000079	Abnormality of the urinary system	-	ORPHA:79410
1294	COL7A1	HP:0000079	Abnormality of the urinary system	-	ORPHA:79411
1294	COL7A1	HP:0033803	Sub-lamina densa cleavage	-	OMIM:132000
1294	COL7A1	HP:0033803	Sub-lamina densa cleavage	2/2	OMIM:226600
1294	COL7A1	HP:0033803	Sub-lamina densa cleavage	2/2	OMIM:131750
1294	COL7A1	HP:0001371	Flexion contracture	HP:0040281	ORPHA:79408
1294	COL7A1	HP:0001371	Flexion contracture	-	OMIM:226600
1294	COL7A1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:89842
1294	COL7A1	HP:0007473	Crusting erythematous dermatitis	HP:0040282	ORPHA:158673
1294	COL7A1	HP:0002671	Basal cell carcinoma	-	ORPHA:79408
1294	COL7A1	HP:0002671	Basal cell carcinoma	-	ORPHA:79409
1294	COL7A1	HP:0002671	Basal cell carcinoma	-	ORPHA:79410
1294	COL7A1	HP:0002671	Basal cell carcinoma	-	ORPHA:79411
1294	COL7A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:226600
1294	COL7A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:131850
1294	COL7A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:131705
1294	COL7A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:604129
1294	COL7A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131850
1294	COL7A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131750
1294	COL7A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131705
1294	COL7A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:607523
1294	COL7A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:604129
1294	COL7A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:132000
1294	COL7A1	HP:0025474	Erythematous plaque	HP:0040282	ORPHA:158673
1294	COL7A1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0000160	Narrow mouth	-	OMIM:226600
1294	COL7A1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:89842
1294	COL7A1	HP:0000152	Abnormality of head or neck	HP:0040283	ORPHA:89843
1294	COL7A1	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:89843
1294	COL7A1	HP:0006297	Enamel hypoplasia	-	ORPHA:79408
1294	COL7A1	HP:0006297	Enamel hypoplasia	-	ORPHA:79409
1294	COL7A1	HP:0006297	Enamel hypoplasia	-	OMIM:226600
1294	COL7A1	HP:0006297	Enamel hypoplasia	-	ORPHA:79410
1294	COL7A1	HP:0006297	Enamel hypoplasia	-	ORPHA:79411
1294	COL7A1	HP:0025416	Vaginal stricture	HP:0040283	ORPHA:79409
1294	COL7A1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0002019	Constipation	-	OMIM:226600
1294	COL7A1	HP:0002019	Constipation	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0002031	Abnormal esophagus morphology	-	OMIM:226600
1294	COL7A1	HP:0002031	Abnormal esophagus morphology	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0040303	Decreased circulating iron concentration	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0002015	Dysphagia	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0002015	Dysphagia	-	OMIM:226600
1294	COL7A1	HP:0002015	Dysphagia	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0003341	Lamina lucida cleavage	HP:0040283	ORPHA:89843
1294	COL7A1	HP:0002043	Esophageal stricture	HP:0040283	ORPHA:79409
1294	COL7A1	HP:0002043	Esophageal stricture	-	OMIM:226600
1294	COL7A1	HP:0002043	Esophageal stricture	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0002043	Esophageal stricture	HP:0040282	ORPHA:158673
1294	COL7A1	HP:0100508	Abnormality of vitamin metabolism	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0100512	Decreased circulating vitamin D concentration	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0100512	Decreased circulating vitamin D concentration	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0010450	Esophageal stenosis	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0004791	Esophageal ulceration	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0011936	Decreased plasma total carnitine	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0002164	Nail dysplasia	-	OMIM:226600
1294	COL7A1	HP:0002164	Nail dysplasia	HP:0040283	ORPHA:89842
1294	COL7A1	HP:0002164	Nail dysplasia	-	OMIM:604129
1294	COL7A1	HP:0002164	Nail dysplasia	-	OMIM:131750
1294	COL7A1	HP:0010562	Keloids	HP:0040282	ORPHA:79410
1294	COL7A1	HP:0003593	Infantile onset	2/2	OMIM:226600
1294	COL7A1	HP:0003577	Congenital onset	-	OMIM:226600
1294	COL7A1	HP:0003577	Congenital onset	-	OMIM:132000
1294	COL7A1	HP:0003577	Congenital onset	12/14	OMIM:131750
1294	COL7A1	HP:0008401	Onychogryphosis of toenails	HP:0040282	ORPHA:158676
1294	COL7A1	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:79408
1294	COL7A1	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:79409
1294	COL7A1	HP:0008404	Nail dystrophy	-	OMIM:226600
1294	COL7A1	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:158676
1294	COL7A1	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:89843
1294	COL7A1	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:79410
1294	COL7A1	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:79411
1294	COL7A1	HP:0008404	Nail dystrophy	-	OMIM:132000
1294	COL7A1	HP:0008404	Nail dystrophy	-	OMIM:131705
1294	COL7A1	HP:0008404	Nail dystrophy	-	OMIM:604129
1294	COL7A1	HP:0008404	Nail dystrophy	8/8	OMIM:131850
1294	COL7A1	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:231568
1294	COL7A1	HP:0008404	Nail dystrophy	-	OMIM:131750
1294	COL7A1	HP:0009723	Abnormal subungual morphology	HP:0040282	ORPHA:79411
1294	COL7A1	HP:0100725	Lichenification	HP:0040282	ORPHA:89843
1294	COL7A1	HP:0008366	Foot joint contracture	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0200097	Oral mucosal blisters	-	OMIM:132000
1294	COL7A1	HP:0200097	Oral mucosal blisters	HP:0040281	ORPHA:79408
1294	COL7A1	HP:0200097	Oral mucosal blisters	HP:0040282	ORPHA:79409
1294	COL7A1	HP:0200097	Oral mucosal blisters	2/2	OMIM:226600
1294	COL7A1	HP:0200097	Oral mucosal blisters	HP:0040283	ORPHA:231568
1294	COL7A1	HP:0200097	Oral mucosal blisters	HP:0040283	ORPHA:79410
1294	COL7A1	HP:0200097	Oral mucosal blisters	HP:0040282	ORPHA:79411
1294	COL7A1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0008390	Recurrent loss of toenails and fingernails	HP:0040283	ORPHA:231568
1294	COL7A1	HP:0008390	Recurrent loss of toenails and fingernails	HP:0040283	ORPHA:158673
1294	COL7A1	HP:0008391	Dystrophic fingernails	HP:0040283	ORPHA:231568
1294	COL7A1	HP:0008391	Dystrophic fingernails	HP:0040282	ORPHA:158676
1294	COL7A1	HP:0008391	Dystrophic fingernails	HP:0040282	ORPHA:158673
1294	COL7A1	HP:0008388	Abnormal toenail morphology	HP:0040283	ORPHA:89843
1294	COL7A1	HP:0008388	Abnormal toenail morphology	HP:0040282	ORPHA:79410
1294	COL7A1	HP:0001056	Milia	-	OMIM:604129
1294	COL7A1	HP:0001056	Milia	HP:0040281	ORPHA:79408
1294	COL7A1	HP:0001056	Milia	HP:0040282	ORPHA:79409
1294	COL7A1	HP:0001056	Milia	-	OMIM:226600
1294	COL7A1	HP:0001056	Milia	HP:0040282	ORPHA:231568
1294	COL7A1	HP:0001056	Milia	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0001056	Milia	HP:0040282	ORPHA:158673
1294	COL7A1	HP:0001056	Milia	HP:0040283	ORPHA:89843
1294	COL7A1	HP:0001056	Milia	-	OMIM:131750
1294	COL7A1	HP:0001056	Milia	-	OMIM:131705
1294	COL7A1	HP:0001056	Milia	HP:0040282	ORPHA:79410
1294	COL7A1	HP:0001056	Milia	HP:0040282	ORPHA:79411
1294	COL7A1	HP:0001057	Aplasia cutis congenita	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0001057	Aplasia cutis congenita	HP:0040283	ORPHA:89842
1294	COL7A1	HP:0001057	Aplasia cutis congenita	HP:0040283	ORPHA:79411
1294	COL7A1	HP:0001030	Fragile skin	-	OMIM:604129
1294	COL7A1	HP:0001030	Fragile skin	HP:0040281	ORPHA:79408
1294	COL7A1	HP:0001030	Fragile skin	HP:0040281	ORPHA:79409
1294	COL7A1	HP:0001030	Fragile skin	-	OMIM:226600
1294	COL7A1	HP:0001030	Fragile skin	-	ORPHA:158676
1294	COL7A1	HP:0001030	Fragile skin	HP:0040281	ORPHA:89842
1294	COL7A1	HP:0001030	Fragile skin	HP:0040282	ORPHA:158673
1294	COL7A1	HP:0001030	Fragile skin	HP:0040282	ORPHA:79410
1294	COL7A1	HP:0001030	Fragile skin	HP:0040282	ORPHA:79411
1294	COL7A1	HP:0001030	Fragile skin	-	OMIM:132000
1294	COL7A1	HP:0001030	Fragile skin	HP:0040282	ORPHA:231568
1294	COL7A1	HP:0001030	Fragile skin	-	OMIM:131705
1294	COL7A1	HP:0001029	Poikiloderma	HP:0040282	ORPHA:158673
1294	COL7A1	HP:0001009	Telangiectasia	HP:0040282	ORPHA:158673
1294	COL7A1	HP:0001000	Abnormality of skin pigmentation	HP:0040284	ORPHA:79411
1294	COL7A1	HP:0200020	Corneal erosion	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0200020	Corneal erosion	HP:0040283	ORPHA:89842
1294	COL7A1	HP:0200037	Skin vesicle	HP:0040283	ORPHA:79410
1294	COL7A1	HP:0200035	Skin plaque	HP:0040282	ORPHA:89843
1294	COL7A1	HP:0200034	Papule	HP:0040283	ORPHA:89843
1294	COL7A1	HP:0009811	Abnormality of the elbow	HP:0040283	ORPHA:158673
1294	COL7A1	HP:0009811	Abnormality of the elbow	HP:0040282	ORPHA:89843
1294	COL7A1	HP:0001075	Atrophic scars	HP:0040281	ORPHA:79408
1294	COL7A1	HP:0001075	Atrophic scars	HP:0040282	ORPHA:79409
1294	COL7A1	HP:0001075	Atrophic scars	2/2	OMIM:226600
1294	COL7A1	HP:0001075	Atrophic scars	7/8	OMIM:131850
1294	COL7A1	HP:0001075	Atrophic scars	HP:0040283	ORPHA:89843
1294	COL7A1	HP:0001075	Atrophic scars	HP:0040282	ORPHA:79410
1294	COL7A1	HP:0001075	Atrophic scars	HP:0040282	ORPHA:79411
1294	COL7A1	HP:0001075	Atrophic scars	HP:0040283	ORPHA:231568
1294	COL7A1	HP:0001075	Atrophic scars	-	OMIM:131750
1294	COL7A1	HP:0001075	Atrophic scars	-	OMIM:131705
1294	COL7A1	HP:0200041	Skin erosion	HP:0040283	ORPHA:231568
1294	COL7A1	HP:0200041	Skin erosion	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0200041	Skin erosion	HP:0040283	ORPHA:79410
1294	COL7A1	HP:0200041	Skin erosion	HP:0040283	ORPHA:79411
1294	COL7A1	HP:0010783	Erythema	HP:0040282	ORPHA:158673
1294	COL7A1	HP:0100699	Scarring	HP:0040283	ORPHA:89843
1294	COL7A1	HP:0003623	Neonatal onset	2/14	OMIM:131750
1294	COL7A1	HP:0003623	Neonatal onset	6/6	OMIM:131705
1294	COL7A1	HP:0003621	Juvenile onset	1/1	OMIM:131850
1294	COL7A1	HP:0031831	Decreased serum zinc	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0031831	Decreased serum zinc	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0012622	Chronic kidney disease	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0001965	Abnormal scalp morphology	HP:0040282	ORPHA:79408
1294	COL7A1	HP:0001965	Abnormal scalp morphology	-	ORPHA:79409
1294	COL7A1	HP:0001965	Abnormal scalp morphology	-	ORPHA:79410
1294	COL7A1	HP:0001965	Abnormal scalp morphology	-	ORPHA:79411
1294	COL7A1	HP:0001903	Anemia	HP:0040281	ORPHA:79408
1294	COL7A1	HP:0001903	Anemia	HP:0040283	ORPHA:79409
1294	COL7A1	HP:0001903	Anemia	-	ORPHA:79410
1294	COL7A1	HP:0001903	Anemia	-	ORPHA:79411
1294	COL7A1	HP:0001903	Anemia	-	OMIM:226600
1294	COL7A1	HP:0001903	Anemia	HP:0040281	ORPHA:89842
1294	COL7A1	HP:0001917	Renal amyloidosis	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0011355	Localized skin lesion	HP:0040282	ORPHA:79409
1294	COL7A1	HP:0011355	Localized skin lesion	HP:0040281	ORPHA:79410
1294	COL7A1	HP:0011354	Generalized abnormality of skin	HP:0040282	ORPHA:79408
1294	COL7A1	HP:0011354	Generalized abnormality of skin	HP:0040281	ORPHA:79411
1294	COL7A1	HP:0000670	Carious teeth	HP:0040281	ORPHA:79408
1294	COL7A1	HP:0000670	Carious teeth	HP:0040282	ORPHA:79409
1294	COL7A1	HP:0000670	Carious teeth	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0000670	Carious teeth	HP:0040283	ORPHA:79410
1294	COL7A1	HP:0000670	Carious teeth	HP:0040283	ORPHA:79411
1294	COL7A1	HP:0004325	Decreased body weight	HP:0040281	ORPHA:89842
1294	COL7A1	HP:0004334	Dermal atrophy	HP:0040282	ORPHA:158673
1294	COL7A1	HP:0004334	Dermal atrophy	HP:0040283	ORPHA:89843
1294	COL7A1	HP:0003073	Hypoalbuminemia	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0004386	Gastrointestinal inflammation	HP:0040281	ORPHA:79408
1294	COL7A1	HP:0004386	Gastrointestinal inflammation	HP:0040282	ORPHA:79409
1294	COL7A1	HP:0004386	Gastrointestinal inflammation	-	ORPHA:79410
1294	COL7A1	HP:0004386	Gastrointestinal inflammation	-	ORPHA:79411
1294	COL7A1	HP:0004395	Malnutrition	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0004395	Malnutrition	-	OMIM:226600
1294	COL7A1	HP:0004395	Malnutrition	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0031903	Abnormal circulating selenium concentration	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0031903	Abnormal circulating selenium concentration	HP:0040281	ORPHA:89842
1294	COL7A1	HP:0003019	Abnormality of the wrist	HP:0040282	ORPHA:89843
1294	COL7A1	HP:0000739	Anxiety	HP:0040282	ORPHA:79408
1294	COL7A1	HP:0000739	Anxiety	HP:0040283	ORPHA:89842
1294	COL7A1	HP:0000716	Depression	HP:0040282	ORPHA:79408
1294	COL7A1	HP:0000716	Depression	HP:0040283	ORPHA:89842
1294	COL7A1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:89842
1294	COL7A1	HP:0000794	IgA deposition in the glomerulus	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:89842
1294	COL7A1	HP:0010296	Ankyloglossia	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0010296	Ankyloglossia	HP:0040283	ORPHA:89842
1294	COL7A1	HP:0040036	Onychogryphosis of fingernail	HP:0040282	ORPHA:158676
1294	COL7A1	HP:0003234	Decreased circulating carnitine concentration	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0003212	Increased circulating IgE concentration	HP:0040284	ORPHA:89843
1294	COL7A1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0045059	Hyperkeratotic papule	HP:0040283	ORPHA:79410
1294	COL7A1	HP:0000972	Palmoplantar hyperkeratosis	HP:0040282	ORPHA:158673
1294	COL7A1	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:158673
1294	COL7A1	HP:0000987	Atypical scarring of skin	HP:0040281	ORPHA:231568
1294	COL7A1	HP:0000987	Atypical scarring of skin	HP:0040281	ORPHA:89842
1294	COL7A1	HP:0000987	Atypical scarring of skin	HP:0040282	ORPHA:79410
1294	COL7A1	HP:0000989	Pruritus	HP:0040281	ORPHA:89843
1294	COL7A1	HP:0000989	Pruritus	HP:0040282	ORPHA:79410
1294	COL7A1	HP:0000989	Pruritus	1/1	OMIM:131850
1294	COL7A1	HP:0000982	Palmoplantar keratoderma	-	ORPHA:79408
1294	COL7A1	HP:0000982	Palmoplantar keratoderma	-	ORPHA:79409
1294	COL7A1	HP:0000982	Palmoplantar keratoderma	-	ORPHA:79410
1294	COL7A1	HP:0000982	Palmoplantar keratoderma	-	ORPHA:79411
1294	COL7A1	HP:0000963	Thin skin	HP:0040282	ORPHA:158673
1294	COL7A1	HP:0000962	Hyperkeratosis	HP:0040283	ORPHA:89843
1294	COL7A1	HP:0000962	Hyperkeratosis	-	OMIM:131850
1294	COL7A1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0000938	Osteopenia	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79408
1294	COL7A1	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:79409
1294	COL7A1	HP:0008066	Abnormal blistering of the skin	2/2	OMIM:226600
1294	COL7A1	HP:0008066	Abnormal blistering of the skin	-	ORPHA:158676
1294	COL7A1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:89842
1294	COL7A1	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:158673
1294	COL7A1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:89843
1294	COL7A1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79410
1294	COL7A1	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:79411
1294	COL7A1	HP:0008066	Abnormal blistering of the skin	-	OMIM:132000
1294	COL7A1	HP:0008066	Abnormal blistering of the skin	6/6	OMIM:131705
1294	COL7A1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:231568
1294	COL7A1	HP:0008066	Abnormal blistering of the skin	14/14	OMIM:131750
1294	COL7A1	HP:0001596	Alopecia	-	OMIM:226600
1294	COL7A1	HP:0012252	Abnormal respiratory system morphology	-	ORPHA:79408
1294	COL7A1	HP:0012252	Abnormal respiratory system morphology	-	ORPHA:79409
1294	COL7A1	HP:0012252	Abnormal respiratory system morphology	-	ORPHA:79410
1294	COL7A1	HP:0012252	Abnormal respiratory system morphology	-	ORPHA:79411
1294	COL7A1	HP:0002814	Abnormality of the lower limb	HP:0040282	ORPHA:158673
1294	COL7A1	HP:0002815	Abnormality of the knee	HP:0040283	ORPHA:158673
1294	COL7A1	HP:0012227	Urethral stricture	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0012227	Urethral stricture	HP:0040283	ORPHA:79409
1294	COL7A1	HP:0001581	Recurrent skin infections	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0012221	Pretibial blistering	HP:0040281	ORPHA:79410
1294	COL7A1	HP:0012221	Pretibial blistering	6/8	OMIM:131850
1294	COL7A1	HP:0012221	Pretibial blistering	HP:0040282	ORPHA:89843
1294	COL7A1	HP:0002860	Squamous cell carcinoma	HP:0040282	ORPHA:79408
1294	COL7A1	HP:0002860	Squamous cell carcinoma	-	ORPHA:79409
1294	COL7A1	HP:0002860	Squamous cell carcinoma	-	OMIM:226600
1294	COL7A1	HP:0002860	Squamous cell carcinoma	HP:0040284	ORPHA:89842
1294	COL7A1	HP:0002860	Squamous cell carcinoma	-	ORPHA:79410
1294	COL7A1	HP:0002860	Squamous cell carcinoma	-	ORPHA:79411
1294	COL7A1	HP:0032676	Chronic cutaneous wound	HP:0040282	ORPHA:79408
1294	COL7A1	HP:0032676	Chronic cutaneous wound	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:89842
1294	COL7A1	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0001510	Growth delay	HP:0040281	ORPHA:79408
1294	COL7A1	HP:0001510	Growth delay	HP:0040283	ORPHA:79409
1294	COL7A1	HP:0001510	Growth delay	-	ORPHA:79410
1294	COL7A1	HP:0001510	Growth delay	-	ORPHA:79411
1294	COL7A1	HP:0001510	Growth delay	-	OMIM:226600
1294	COL7A1	HP:0001510	Growth delay	HP:0040281	ORPHA:89842
1294	COL7A1	HP:0012390	Anal fissure	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0012390	Anal fissure	HP:0040283	ORPHA:89842
1294	COL7A1	HP:0005203	Spontaneous esophageal perforation	-	OMIM:226600
1294	COL7A1	HP:0031446	Erosion of oral mucosa	HP:0040282	ORPHA:79408
1294	COL7A1	HP:0031446	Erosion of oral mucosa	HP:0040283	ORPHA:231568
1294	COL7A1	HP:0031464	Genital blistering	HP:0040284	ORPHA:79408
1294	COL7A1	HP:0031464	Genital blistering	HP:0040282	ORPHA:79409
1294	COL7A1	HP:0031464	Genital blistering	-	ORPHA:79410
1294	COL7A1	HP:0031464	Genital blistering	-	ORPHA:79411
1294	COL7A1	HP:0002973	Abnormal forearm morphology	HP:0040283	ORPHA:89843
1294	COL7A1	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:89842
1294	COL7A1	HP:0004057	Mitten deformity	HP:0040281	ORPHA:79408
1294	COL7A1	HP:0004057	Mitten deformity	HP:0040283	ORPHA:79409
1294	COL7A1	HP:0004057	Mitten deformity	-	OMIM:226600
1294	COL7A1	HP:0004057	Mitten deformity	HP:0040283	ORPHA:79410
1294	COL7A1	HP:0004057	Mitten deformity	-	ORPHA:79411
1294	COL7A1	HP:0004057	Mitten deformity	HP:0040283	ORPHA:89842
1294	COL7A1	HP:0000402	Stenosis of the external auditory canal	HP:0040283	ORPHA:79409
1294	COL7A1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:79408
1294	COL7A1	HP:0000478	Abnormality of the eye	-	ORPHA:79409
1294	COL7A1	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:79410
1294	COL7A1	HP:0000478	Abnormality of the eye	-	ORPHA:79411
1294	COL7A1	HP:0001792	Small nail	HP:0040283	ORPHA:79410
1294	COL7A1	HP:0011121	Abnormal skin morphology	-	ORPHA:158676
1294	COL7A1	HP:0001798	Anonychia	HP:0040282	ORPHA:79408
1294	COL7A1	HP:0001798	Anonychia	HP:0040282	ORPHA:79409
1294	COL7A1	HP:0001798	Anonychia	HP:0040283	ORPHA:89842
1294	COL7A1	HP:0001798	Anonychia	HP:0040282	ORPHA:79410
1294	COL7A1	HP:0001798	Anonychia	HP:0040282	ORPHA:79411
1294	COL7A1	HP:0000518	Cataract	-	OMIM:226600
1294	COL7A1	HP:0000509	Conjunctivitis	-	OMIM:226600
1294	COL7A1	HP:0001808	Fragile nails	HP:0040281	ORPHA:158676
1294	COL7A1	HP:0001805	Onychogryphosis	HP:0040281	ORPHA:158676
1294	COL7A1	HP:0001802	Absent toenail	HP:0040283	ORPHA:231568
1294	COL7A1	HP:0001802	Absent toenail	HP:0040283	ORPHA:158676
1294	COL7A1	HP:0001802	Absent toenail	HP:0040283	ORPHA:89842
1294	COL7A1	HP:0001817	Absent fingernail	HP:0040283	ORPHA:231568
1294	COL7A1	HP:0001810	Dystrophic toenail	-	OMIM:607523
1294	COL7A1	HP:0001810	Dystrophic toenail	HP:0040282	ORPHA:231568
1294	COL7A1	HP:0001810	Dystrophic toenail	HP:0040282	ORPHA:158676
1294	COL7A1	HP:0001810	Dystrophic toenail	HP:0040282	ORPHA:158673
1294	COL7A1	HP:0030350	Erythematous papule	HP:0040283	ORPHA:79410
1294	COL7A1	HP:0001891	Iron deficiency anemia	HP:0040282	ORPHA:79408
1294	COL7A1	HP:0000559	Corneal scarring	-	OMIM:226600
1294	COL7A1	HP:0000572	Visual loss	HP:0040283	ORPHA:79408
1294	COL7A1	HP:0000572	Visual loss	HP:0040283	ORPHA:89842
1294	COL7A1	HP:0012532	Chronic pain	HP:0040281	ORPHA:79408
1296	COL8A2	HP:0001131	Corneal dystrophy	-	OMIM:609140
1296	COL8A2	HP:0001131	Corneal dystrophy	-	OMIM:136800
1296	COL8A2	HP:0009918	Ectopia pupillae	HP:0040284	ORPHA:98973
1296	COL8A2	HP:0025358	Uveal ectropion	HP:0040283	ORPHA:98973
1296	COL8A2	HP:0012038	Corneal guttata	-	OMIM:136800
1296	COL8A2	HP:0012039	Descemet Membrane Folds	-	OMIM:136800
1296	COL8A2	HP:0012040	Corneal stromal edema	-	OMIM:136800
1296	COL8A2	HP:0012040	Corneal stromal edema	HP:0040283	ORPHA:98973
1296	COL8A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:609140
1296	COL8A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:136800
1296	COL8A2	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:98973
1296	COL8A2	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:98974
1296	COL8A2	HP:0200026	Ocular pain	HP:0040284	ORPHA:98973
1296	COL8A2	HP:0200065	Chorioretinal degeneration	HP:0040284	ORPHA:98973
1296	COL8A2	HP:0032122	Very low visual acuity	HP:0040283	ORPHA:98973
1296	COL8A2	HP:0100692	Increased corneal curvature	HP:0040283	ORPHA:98973
1296	COL8A2	HP:0000632	Lacrimation abnormality	HP:0040284	ORPHA:98973
1296	COL8A2	HP:0000646	Amblyopia	HP:0040283	ORPHA:98973
1296	COL8A2	HP:0000613	Photophobia	HP:0040284	ORPHA:98973
1296	COL8A2	HP:0000622	Blurred vision	HP:0040284	ORPHA:98973
1296	COL8A2	HP:0000662	Nyctalopia	HP:0040282	ORPHA:98974
1296	COL8A2	HP:0011488	Abnormal corneal endothelium morphology	HP:0040281	ORPHA:98974
1296	COL8A2	HP:0011491	Reduced number of corneal endothelial cells	HP:0040281	ORPHA:98973
1296	COL8A2	HP:0011491	Reduced number of corneal endothelial cells	HP:0040281	ORPHA:98974
1296	COL8A2	HP:0011490	Abnormal Descemet membrane morphology	HP:0040281	ORPHA:98973
1296	COL8A2	HP:0011490	Abnormal Descemet membrane morphology	HP:0040281	ORPHA:98974
1296	COL8A2	HP:0011483	Anterior synechiae of the anterior chamber	HP:0040283	ORPHA:98973
1296	COL8A2	HP:0030857	Eye movement-induced pain	HP:0040282	ORPHA:98974
1296	COL8A2	HP:0000969	Edema	HP:0040281	ORPHA:98974
1296	COL8A2	HP:0007705	Corneal degeneration	-	OMIM:136800
1296	COL8A2	HP:0007957	Corneal opacity	-	OMIM:609140
1296	COL8A2	HP:0007957	Corneal opacity	HP:0040284	ORPHA:98973
1296	COL8A2	HP:0007957	Corneal opacity	HP:0040281	ORPHA:98974
1296	COL8A2	HP:0007906	Ocular hypertension	HP:0040284	ORPHA:98973
1296	COL8A2	HP:0000483	Astigmatism	HP:0040283	ORPHA:98973
1296	COL8A2	HP:0000501	Glaucoma	HP:0040284	ORPHA:98973
1296	COL8A2	HP:0000572	Visual loss	HP:0040282	ORPHA:98974
1296	COL8A2	HP:0000565	Esotropia	HP:0040284	ORPHA:98973
1297	COL9A1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
1297	COL9A1	HP:0001123	Visual field defect	-	OMIM:143200
1297	COL9A1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1297	COL9A1	HP:0001293	Cranial nerve compression	-	OMIM:131300
1297	COL9A1	HP:0001270	Motor delay	-	OMIM:156550
1297	COL9A1	HP:0001288	Gait disturbance	-	OMIM:156550
1297	COL9A1	HP:0001252	Hypotonia	2/7	OMIM:615777
1297	COL9A1	HP:0001249	Intellectual disability	5/7	OMIM:615777
1297	COL9A1	HP:0001263	Global developmental delay	-	OMIM:615777
1297	COL9A1	HP:0100864	Short femoral neck	2/3	OMIM:614134
1297	COL9A1	HP:0006055	Ulnar deviated club hands	HP:0040283	ORPHA:166002
1297	COL9A1	HP:0002515	Waddling gait	HP:0040283	ORPHA:166002
1297	COL9A1	HP:0002515	Waddling gait	54/102	OMIM:131300
1297	COL9A1	HP:0006095	Wide tufts of distal phalanges	-	OMIM:154780
1297	COL9A1	HP:0001376	Limitation of joint mobility	-	OMIM:156550
1297	COL9A1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:250984
1297	COL9A1	HP:0001382	Joint hypermobility	-	OMIM:615777
1297	COL9A1	HP:0001382	Joint hypermobility	0/3	OMIM:614134
1297	COL9A1	HP:0012019	Lens luxation	-	OMIM:154780
1297	COL9A1	HP:0000023	Inguinal hernia	-	OMIM:156550
1297	COL9A1	HP:0002684	Thickened calvaria	-	OMIM:154780
1297	COL9A1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1297	COL9A1	HP:0002688	Absent frontal sinuses	-	OMIM:154780
1297	COL9A1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1297	COL9A1	HP:0008839	Hypoplastic pelvis	-	OMIM:156550
1297	COL9A1	HP:0006190	Radially deviated wrists	HP:0040283	ORPHA:166002
1297	COL9A1	HP:0006172	Flattened, squared-off epiphyses of tubular bones	-	OMIM:156550
1297	COL9A1	HP:0002663	Delayed epiphyseal ossification	-	OMIM:156550
1297	COL9A1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1297	COL9A1	HP:0002656	Epiphyseal dysplasia	-	OMIM:184840
1297	COL9A1	HP:0002656	Epiphyseal dysplasia	13/13	OMIM:614134
1297	COL9A1	HP:0002656	Epiphyseal dysplasia	HP:0040281	ORPHA:250984
1297	COL9A1	HP:0001324	Muscle weakness	HP:0040284	ORPHA:166002
1297	COL9A1	HP:0001324	Muscle weakness	40/96	OMIM:131300
1297	COL9A1	HP:0002654	Multiple epiphyseal dysplasia	2/2	OMIM:614135
1297	COL9A1	HP:0002655	Spondyloepiphyseal dysplasia	HP:0040283	ORPHA:250984
1297	COL9A1	HP:0002673	Coxa valga	-	OMIM:154780
1297	COL9A1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1297	COL9A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
1297	COL9A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1297	COL9A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614134
1297	COL9A1	HP:0003999	Abnormality of radial epiphyses	HP:0040283	ORPHA:166002
1297	COL9A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
1297	COL9A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:154780
1297	COL9A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:156550
1297	COL9A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:143200
1297	COL9A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1297	COL9A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614135
1297	COL9A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:184840
1297	COL9A1	HP:0002650	Scoliosis	1/3	OMIM:614134
1297	COL9A1	HP:0002650	Scoliosis	12/14	OMIM:131300
1297	COL9A1	HP:0002650	Scoliosis	HP:0040283	ORPHA:250984
1297	COL9A1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1297	COL9A1	HP:0003946	Abnormality of the epiphyses of the elbow	HP:0040283	ORPHA:166002
1297	COL9A1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1297	COL9A1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1297	COL9A1	HP:0008905	Rhizomelia	1/1	OMIM:156550
1297	COL9A1	HP:0000179	Thick lower lip vermilion	-	OMIM:154780
1297	COL9A1	HP:0000193	Bifid uvula	4/9	OMIM:154780
1297	COL9A1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1297	COL9A1	HP:0000175	Cleft palate	-	OMIM:184840
1297	COL9A1	HP:0000175	Cleft palate	1/1	OMIM:156550
1297	COL9A1	HP:0000175	Cleft palate	4/9	OMIM:154780
1297	COL9A1	HP:0000175	Cleft palate	HP:0040284	ORPHA:250984
1297	COL9A1	HP:0000175	Cleft palate	2/7	OMIM:615777
1297	COL9A1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
1297	COL9A1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
1297	COL9A1	HP:0007643	Peripheral tractional retinal detachment	-	OMIM:143200
1297	COL9A1	HP:0002779	Tracheomalacia	-	OMIM:156550
1297	COL9A1	HP:0002758	Osteoarthritis	HP:0040283	ORPHA:166002
1297	COL9A1	HP:0002758	Osteoarthritis	2/2	OMIM:614135
1297	COL9A1	HP:0030973	Postexertional symptom exacerbation	HP:0040282	ORPHA:166002
1297	COL9A1	HP:0003365	Arthralgia of the hip	-	OMIM:614135
1297	COL9A1	HP:0003365	Arthralgia of the hip	HP:0040282	ORPHA:166002
1297	COL9A1	HP:0004619	Lumbar kyphoscoliosis	-	OMIM:156550
1297	COL9A1	HP:0003301	Irregular vertebral endplates	-	OMIM:614135
1297	COL9A1	HP:0003301	Irregular vertebral endplates	HP:0040282	ORPHA:250984
1297	COL9A1	HP:0011800	Midface retrusion	-	OMIM:184840
1297	COL9A1	HP:0011800	Midface retrusion	-	OMIM:156550
1297	COL9A1	HP:0011800	Midface retrusion	9/9	OMIM:154780
1297	COL9A1	HP:0011800	Midface retrusion	HP:0040282	ORPHA:250984
1297	COL9A1	HP:0002098	Respiratory distress	-	OMIM:156550
1297	COL9A1	HP:0003370	Flat capital femoral epiphysis	2/4	OMIM:614134
1297	COL9A1	HP:0003370	Flat capital femoral epiphysis	-	OMIM:614135
1297	COL9A1	HP:0003388	Easy fatigability	36/76	OMIM:131300
1297	COL9A1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1297	COL9A1	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:166002
1297	COL9A1	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:250984
1297	COL9A1	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:156550
1297	COL9A1	HP:0010585	Small epiphyses	-	OMIM:614135
1297	COL9A1	HP:0008271	Abnormal cartilage collagen	-	OMIM:156550
1297	COL9A1	HP:0010580	Enlarged epiphyses	-	OMIM:184840
1297	COL9A1	HP:0010582	Irregular epiphyses	-	OMIM:614135
1297	COL9A1	HP:0003577	Congenital onset	1/1	OMIM:156550
1297	COL9A1	HP:0010665	Bilateral coxa valga	HP:0040283	ORPHA:166002
1297	COL9A1	HP:0010631	Abnormality of the epiphyses of the feet	HP:0040283	ORPHA:166002
1297	COL9A1	HP:0003510	Severe short stature	7/7	OMIM:615777
1297	COL9A1	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:156550
1297	COL9A1	HP:0002315	Headache	-	OMIM:131300
1297	COL9A1	HP:0004976	Knee dislocation	6/7	OMIM:615777
1297	COL9A1	HP:0200003	Splayed epiphyses	-	OMIM:156550
1297	COL9A1	HP:0009826	Limb undergrowth	HP:0040282	ORPHA:166002
1297	COL9A1	HP:0200065	Chorioretinal degeneration	3/3	OMIM:614134
1297	COL9A1	HP:0009803	Short phalanx of finger	-	OMIM:615777
1297	COL9A1	HP:0009763	Limb pain	63/92	OMIM:131300
1297	COL9A1	HP:0003621	Juvenile onset	8/19	OMIM:180100
1297	COL9A1	HP:0003621	Juvenile onset	-	OMIM:614135
1297	COL9A1	HP:0003621	Juvenile onset	-	OMIM:131300
1297	COL9A1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1297	COL9A1	HP:0004209	Clinodactyly of the 5th finger	2/9	OMIM:154780
1297	COL9A1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1297	COL9A1	HP:6001056	Out-toeing	-	OMIM:131300
1297	COL9A1	HP:0000651	Diplopia	-	OMIM:131300
1297	COL9A1	HP:0000648	Optic atrophy	-	OMIM:143200
1297	COL9A1	HP:0001956	Truncal obesity	2/7	OMIM:615777
1297	COL9A1	HP:0001903	Anemia	HP:0040283	OMIM:131300
1297	COL9A1	HP:0010049	Short metacarpal	-	OMIM:615777
1297	COL9A1	HP:0010049	Short metacarpal	1/3	OMIM:614134
1297	COL9A1	HP:0030490	Exudative vitreoretinopathy	HP:0040283	OMIM:143200
1297	COL9A1	HP:0000678	Dental crowding	-	OMIM:615777
1297	COL9A1	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:154780
1297	COL9A1	HP:0000662	Nyctalopia	26/28	OMIM:180100
1297	COL9A1	HP:0000670	Carious teeth	-	OMIM:131300
1297	COL9A1	HP:0011304	Broad thumb	2/7	OMIM:615777
1297	COL9A1	HP:0000668	Hypodontia	-	OMIM:615777
1297	COL9A1	HP:0000664	Synophrys	-	OMIM:615777
1297	COL9A1	HP:0004322	Short stature	HP:0040283	ORPHA:166002
1297	COL9A1	HP:0004322	Short stature	-	OMIM:154780
1297	COL9A1	HP:0004322	Short stature	13/13	OMIM:614134
1297	COL9A1	HP:0004327	Abnormal vitreous humor morphology	HP:0040282	ORPHA:250984
1297	COL9A1	HP:0005645	Intervertebral disk calcification	1/1	OMIM:614135
1297	COL9A1	HP:0030663	Optically empty vitreous	-	OMIM:143200
1297	COL9A1	HP:0003088	Premature osteoarthritis	-	OMIM:184840
1297	COL9A1	HP:0004396	Poor appetite	-	OMIM:131300
1297	COL9A1	HP:0003037	Enlarged joints	-	OMIM:156550
1297	COL9A1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1297	COL9A1	HP:0003031	Ulnar bowing	-	OMIM:154780
1297	COL9A1	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:166002
1297	COL9A1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1297	COL9A1	HP:0003045	Abnormal patella morphology	HP:0040283	ORPHA:166002
1297	COL9A1	HP:0003015	Flared metaphysis	-	OMIM:156550
1297	COL9A1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1297	COL9A1	HP:0003026	Short long bone	7/7	OMIM:615777
1297	COL9A1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1297	COL9A1	HP:0000767	Pectus excavatum	1/1	OMIM:156550
1297	COL9A1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1297	COL9A1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1297	COL9A1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1297	COL9A1	HP:0000750	Delayed speech and language development	-	OMIM:615777
1297	COL9A1	HP:0009189	Fragmentation of the metacarpal epiphyses	HP:0040283	ORPHA:166002
1297	COL9A1	HP:0011463	Childhood onset	3/19	OMIM:180100
1297	COL9A1	HP:0011462	Young adult onset	8/19	OMIM:180100
1297	COL9A1	HP:0011461	Fetal onset	7/7	OMIM:615777
1297	COL9A1	HP:0012770	Reduced arm span	HP:0040282	ORPHA:166002
1297	COL9A1	HP:0000774	Narrow chest	2/7	OMIM:615777
1297	COL9A1	HP:0003198	Myopathy	HP:0040284	ORPHA:166002
1297	COL9A1	HP:0003196	Short nose	9/9	OMIM:154780
1297	COL9A1	HP:0000926	Platyspondyly	1/9	OMIM:154780
1297	COL9A1	HP:0000926	Platyspondyly	-	OMIM:184840
1297	COL9A1	HP:0000926	Platyspondyly	HP:0040283	ORPHA:250984
1297	COL9A1	HP:0000926	Platyspondyly	1/7	OMIM:615777
1297	COL9A1	HP:0000926	Platyspondyly	1/1	OMIM:156550
1297	COL9A1	HP:0000926	Platyspondyly	1/4	OMIM:614134
1297	COL9A1	HP:0003180	Flat acetabular roof	-	OMIM:615777
1297	COL9A1	HP:0004482	Relative macrocephaly	-	OMIM:615777
1297	COL9A1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1297	COL9A1	HP:0000823	Delayed puberty	-	OMIM:131300
1297	COL9A1	HP:0040025	Clinodactyly of the 4th finger	2/9	OMIM:154780
1297	COL9A1	HP:0000894	Short clavicles	-	OMIM:615777
1297	COL9A1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1297	COL9A1	HP:0003273	Hip contracture	-	OMIM:156550
1297	COL9A1	HP:0030839	Knee pain	2/2	OMIM:614135
1297	COL9A1	HP:0030839	Knee pain	HP:0040282	ORPHA:166002
1297	COL9A1	HP:0100250	Meningeal calcification	-	OMIM:154780
1297	COL9A1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1297	COL9A1	HP:0000947	Dumbbell-shaped long bone	-	OMIM:156550
1297	COL9A1	HP:0000946	Hypoplastic ilia	-	OMIM:154780
1297	COL9A1	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:143200
1297	COL9A1	HP:0012283	Small distal femoral epiphysis	-	OMIM:154780
1297	COL9A1	HP:0012284	Small proximal tibial epiphyses	-	OMIM:154780
1297	COL9A1	HP:0000286	Epicanthus	-	OMIM:154780
1297	COL9A1	HP:0000286	Epicanthus	1/3	OMIM:614134
1297	COL9A1	HP:0000286	Epicanthus	1/7	OMIM:615777
1297	COL9A1	HP:0000280	Coarse facial features	2/7	OMIM:615777
1297	COL9A1	HP:0000272	Malar flattening	-	OMIM:154780
1297	COL9A1	HP:0000272	Malar flattening	27/28	OMIM:184840
1297	COL9A1	HP:0000272	Malar flattening	HP:0040282	ORPHA:250984
1297	COL9A1	HP:0000272	Malar flattening	1/1	OMIM:156550
1297	COL9A1	HP:0006456	Irregular proximal tibial epiphyses	-	OMIM:154780
1297	COL9A1	HP:0007773	Vitreoretinopathy	-	OMIM:154780
1297	COL9A1	HP:0007773	Vitreoretinopathy	HP:0040282	ORPHA:250984
1297	COL9A1	HP:0007773	Vitreoretinopathy	-	OMIM:143200
1297	COL9A1	HP:0006429	Broad femoral neck	HP:0040283	ORPHA:250984
1297	COL9A1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
1297	COL9A1	HP:0006407	Irregular distal femoral epiphysis	-	OMIM:614135
1297	COL9A1	HP:0006407	Irregular distal femoral epiphysis	-	OMIM:154780
1297	COL9A1	HP:0002815	Abnormality of the knee	-	OMIM:614135
1297	COL9A1	HP:0002815	Abnormality of the knee	HP:0040283	ORPHA:166002
1297	COL9A1	HP:0002812	Coxa vara	HP:0040283	ORPHA:166002
1297	COL9A1	HP:0002812	Coxa vara	-	OMIM:156550
1297	COL9A1	HP:0002812	Coxa vara	2/3	OMIM:614134
1297	COL9A1	HP:0002829	Arthralgia	20/20	OMIM:184840
1297	COL9A1	HP:0002829	Arthralgia	HP:0040282	ORPHA:250984
1297	COL9A1	HP:0002829	Arthralgia	-	OMIM:614135
1297	COL9A1	HP:0002827	Hip dislocation	3/7	OMIM:615777
1297	COL9A1	HP:0002827	Hip dislocation	-	OMIM:156550
1297	COL9A1	HP:0005086	Knee osteoarthritis	-	OMIM:154780
1297	COL9A1	HP:0006398	Flat distal femoral epiphysis	-	OMIM:614135
1297	COL9A1	HP:0006375	Dumbbell-shaped femur	1/1	OMIM:156550
1297	COL9A1	HP:0005041	Irregular capital femoral epiphysis	2/4	OMIM:614134
1297	COL9A1	HP:0006361	Irregular femoral epiphysis	1/3	OMIM:614134
1297	COL9A1	HP:0006361	Irregular femoral epiphysis	-	OMIM:154780
1297	COL9A1	HP:0012230	Rhegmatogenous retinal detachment	3/3	OMIM:614134
1297	COL9A1	HP:0000252	Microcephaly	-	OMIM:615777
1297	COL9A1	HP:0000218	High palate	HP:0040283	ORPHA:250984
1297	COL9A1	HP:0000215	Thick upper lip vermilion	-	OMIM:154780
1297	COL9A1	HP:0002857	Genu valgum	-	OMIM:131300
1297	COL9A1	HP:0002857	Genu valgum	HP:0040283	ORPHA:166002
1297	COL9A1	HP:0002857	Genu valgum	4/4	OMIM:614134
1297	COL9A1	HP:0001537	Umbilical hernia	-	OMIM:156550
1297	COL9A1	HP:0001533	Slender build	-	OMIM:131300
1297	COL9A1	HP:0002866	Hypoplastic iliac wing	1/3	OMIM:614134
1297	COL9A1	HP:0000201	Pierre-Robin sequence	4/9	OMIM:154780
1297	COL9A1	HP:0000201	Pierre-Robin sequence	-	OMIM:184840
1297	COL9A1	HP:0030041	Schmorl's node	1/2	OMIM:614135
1297	COL9A1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1297	COL9A1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
1297	COL9A1	HP:0007807	Optic nerve compression	-	OMIM:131300
1297	COL9A1	HP:0012368	Flat face	7/7	OMIM:615777
1297	COL9A1	HP:0012368	Flat face	4/4	OMIM:614134
1297	COL9A1	HP:0012368	Flat face	HP:0040281	ORPHA:250984
1297	COL9A1	HP:0012371	Hyperplasia of midface	1/3	OMIM:614134
1297	COL9A1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1297	COL9A1	HP:0002945	Intervertebral space narrowing	1/3	OMIM:614134
1297	COL9A1	HP:0001611	Hypernasal speech	2/3	OMIM:614134
1297	COL9A1	HP:0000365	Hearing impairment	10/67	OMIM:131300
1297	COL9A1	HP:0011003	High myopia	-	OMIM:614134
1297	COL9A1	HP:0011003	High myopia	HP:0040281	ORPHA:250984
1297	COL9A1	HP:0000369	Low-set ears	-	OMIM:154780
1297	COL9A1	HP:0000343	Long philtrum	-	OMIM:154780
1297	COL9A1	HP:0000343	Long philtrum	1/7	OMIM:615777
1297	COL9A1	HP:0011001	Increased bone mineral density	-	OMIM:131300
1297	COL9A1	HP:0000347	Micrognathia	-	OMIM:154780
1297	COL9A1	HP:0000347	Micrognathia	HP:0040282	ORPHA:250984
1297	COL9A1	HP:0002982	Tibial bowing	1/1	OMIM:156550
1297	COL9A1	HP:0000316	Hypertelorism	-	OMIM:154780
1297	COL9A1	HP:0000311	Round face	2/7	OMIM:615777
1297	COL9A1	HP:0000311	Round face	-	OMIM:156550
1297	COL9A1	HP:0002986	Radial bowing	-	OMIM:154780
1297	COL9A1	HP:0002970	Genu varum	HP:0040283	ORPHA:166002
1297	COL9A1	HP:0002970	Genu varum	-	OMIM:615777
1297	COL9A1	HP:0002970	Genu varum	1/1	OMIM:156550
1297	COL9A1	HP:0000303	Mandibular prognathia	-	OMIM:131300
1297	COL9A1	HP:0007964	Degenerative vitreoretinopathy	4/4	OMIM:614134
1297	COL9A1	HP:0007992	Lattice retinal degeneration	HP:0040283	ORPHA:250984
1297	COL9A1	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:154780
1297	COL9A1	HP:0000407	Sensorineural hearing impairment	6/6	OMIM:614134
1297	COL9A1	HP:0000407	Sensorineural hearing impairment	16/28	OMIM:184840
1297	COL9A1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:250984
1297	COL9A1	HP:0000403	Recurrent otitis media	4/9	OMIM:154780
1297	COL9A1	HP:0000403	Recurrent otitis media	-	OMIM:156550
1297	COL9A1	HP:0000405	Conductive hearing impairment	-	OMIM:156550
1297	COL9A1	HP:0005280	Depressed nasal bridge	27/28	OMIM:184840
1297	COL9A1	HP:0005280	Depressed nasal bridge	-	OMIM:156550
1297	COL9A1	HP:0005280	Depressed nasal bridge	9/9	OMIM:154780
1297	COL9A1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1297	COL9A1	HP:0000483	Astigmatism	4/4	OMIM:614134
1297	COL9A1	HP:0000478	Abnormality of the eye	0/3	OMIM:184840
1297	COL9A1	HP:0000463	Anteverted nares	27/28	OMIM:184840
1297	COL9A1	HP:0000463	Anteverted nares	-	OMIM:154780
1297	COL9A1	HP:0000470	Short neck	-	OMIM:156550
1297	COL9A1	HP:0000470	Short neck	1/7	OMIM:615777
1297	COL9A1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1297	COL9A1	HP:0001763	Pes planus	1/7	OMIM:615777
1297	COL9A1	HP:0001763	Pes planus	2/3	OMIM:614134
1297	COL9A1	HP:0025707	Hypoplastic fetal nasal bone	-	OMIM:154780
1297	COL9A1	HP:0005462	Calcification of falx cerebri	-	OMIM:154780
1297	COL9A1	HP:0000518	Cataract	-	OMIM:156550
1297	COL9A1	HP:0000518	Cataract	-	OMIM:143200
1297	COL9A1	HP:0000518	Cataract	9/9	OMIM:154780
1297	COL9A1	HP:0000518	Cataract	HP:0040282	ORPHA:250984
1297	COL9A1	HP:0000518	Cataract	3/3	OMIM:614134
1297	COL9A1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
1297	COL9A1	HP:0001840	Metatarsus adductus	-	OMIM:615777
1297	COL9A1	HP:0000520	Proptosis	2/4	OMIM:131300
1297	COL9A1	HP:0000520	Proptosis	7/7	OMIM:615777
1297	COL9A1	HP:0000520	Proptosis	-	OMIM:156550
1297	COL9A1	HP:0000501	Glaucoma	-	OMIM:154780
1297	COL9A1	HP:0000501	Glaucoma	-	OMIM:143200
1297	COL9A1	HP:0000575	Scotoma	5/18	OMIM:180100
1297	COL9A1	HP:0000592	Blue sclerae	2/7	OMIM:615777
1297	COL9A1	HP:0000572	Visual loss	-	OMIM:143200
1297	COL9A1	HP:0000565	Esotropia	-	OMIM:154780
1297	COL9A1	HP:0000541	Retinal detachment	-	OMIM:154780
1297	COL9A1	HP:0000541	Retinal detachment	-	OMIM:156550
1297	COL9A1	HP:0000541	Retinal detachment	HP:0040283	ORPHA:250984
1297	COL9A1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1297	COL9A1	HP:0000533	Chorioretinal atrophy	-	OMIM:143200
1297	COL9A1	HP:0012514	Lower limb pain	4/4	OMIM:131300
1297	COL9A1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
1297	COL9A1	HP:0000545	Myopia	-	OMIM:180100
1297	COL9A1	HP:0000545	Myopia	1/1	OMIM:156550
1297	COL9A1	HP:0000545	Myopia	-	OMIM:143200
1297	COL9A1	HP:0000545	Myopia	9/9	OMIM:154780
1297	COL9A1	HP:0000545	Myopia	HP:0040282	ORPHA:250984
1297	COL9A1	HP:0000545	Myopia	3/3	OMIM:614134
1298	COL9A2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
1298	COL9A2	HP:0001123	Visual field defect	-	OMIM:143200
1298	COL9A2	HP:0010886	Osteochondritis dissecans	1/4	OMIM:600204
1298	COL9A2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1298	COL9A2	HP:0001293	Cranial nerve compression	-	OMIM:131300
1298	COL9A2	HP:0001270	Motor delay	-	OMIM:156550
1298	COL9A2	HP:0025238	Foot pain	1/4	OMIM:600204
1298	COL9A2	HP:0001288	Gait disturbance	-	OMIM:156550
1298	COL9A2	HP:0001252	Hypotonia	2/7	OMIM:615777
1298	COL9A2	HP:0001249	Intellectual disability	5/7	OMIM:615777
1298	COL9A2	HP:0001263	Global developmental delay	-	OMIM:615777
1298	COL9A2	HP:0006055	Ulnar deviated club hands	HP:0040283	ORPHA:166002
1298	COL9A2	HP:0002515	Waddling gait	HP:0040283	ORPHA:166002
1298	COL9A2	HP:0002515	Waddling gait	54/102	OMIM:131300
1298	COL9A2	HP:0002515	Waddling gait	-	OMIM:600204
1298	COL9A2	HP:0006095	Wide tufts of distal phalanges	-	OMIM:154780
1298	COL9A2	HP:0001376	Limitation of joint mobility	-	OMIM:156550
1298	COL9A2	HP:0001385	Hip dysplasia	1/4	OMIM:600204
1298	COL9A2	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:250984
1298	COL9A2	HP:0001382	Joint hypermobility	-	OMIM:615777
1298	COL9A2	HP:0012019	Lens luxation	-	OMIM:154780
1298	COL9A2	HP:0000023	Inguinal hernia	-	OMIM:156550
1298	COL9A2	HP:0002684	Thickened calvaria	-	OMIM:154780
1298	COL9A2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1298	COL9A2	HP:0002688	Absent frontal sinuses	-	OMIM:154780
1298	COL9A2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1298	COL9A2	HP:0008839	Hypoplastic pelvis	-	OMIM:156550
1298	COL9A2	HP:0006190	Radially deviated wrists	HP:0040283	ORPHA:166002
1298	COL9A2	HP:0006172	Flattened, squared-off epiphyses of tubular bones	-	OMIM:156550
1298	COL9A2	HP:0002663	Delayed epiphyseal ossification	-	OMIM:156550
1298	COL9A2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1298	COL9A2	HP:0002656	Epiphyseal dysplasia	-	OMIM:184840
1298	COL9A2	HP:0002656	Epiphyseal dysplasia	4/4	OMIM:600204
1298	COL9A2	HP:0002656	Epiphyseal dysplasia	HP:0040281	ORPHA:250984
1298	COL9A2	HP:0001324	Muscle weakness	HP:0040284	ORPHA:166002
1298	COL9A2	HP:0001324	Muscle weakness	40/96	OMIM:131300
1298	COL9A2	HP:0002655	Spondyloepiphyseal dysplasia	HP:0040283	ORPHA:250984
1298	COL9A2	HP:0002673	Coxa valga	-	OMIM:154780
1298	COL9A2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1298	COL9A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
1298	COL9A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1298	COL9A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614284
1298	COL9A2	HP:0003999	Abnormality of radial epiphyses	HP:0040283	ORPHA:166002
1298	COL9A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
1298	COL9A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:154780
1298	COL9A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:156550
1298	COL9A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:143200
1298	COL9A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1298	COL9A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:184840
1298	COL9A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:600204
1298	COL9A2	HP:0002650	Scoliosis	12/14	OMIM:131300
1298	COL9A2	HP:0002650	Scoliosis	HP:0040283	ORPHA:250984
1298	COL9A2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1298	COL9A2	HP:0003946	Abnormality of the epiphyses of the elbow	HP:0040283	ORPHA:166002
1298	COL9A2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1298	COL9A2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1298	COL9A2	HP:0008905	Rhizomelia	1/1	OMIM:156550
1298	COL9A2	HP:0000179	Thick lower lip vermilion	-	OMIM:154780
1298	COL9A2	HP:0000193	Bifid uvula	4/9	OMIM:154780
1298	COL9A2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1298	COL9A2	HP:0000175	Cleft palate	-	OMIM:184840
1298	COL9A2	HP:0000175	Cleft palate	1/1	OMIM:156550
1298	COL9A2	HP:0000175	Cleft palate	4/9	OMIM:154780
1298	COL9A2	HP:0000175	Cleft palate	HP:0040284	ORPHA:250984
1298	COL9A2	HP:0000175	Cleft palate	2/7	OMIM:615777
1298	COL9A2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
1298	COL9A2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
1298	COL9A2	HP:0007643	Peripheral tractional retinal detachment	-	OMIM:143200
1298	COL9A2	HP:0002779	Tracheomalacia	-	OMIM:156550
1298	COL9A2	HP:0002758	Osteoarthritis	HP:0040283	ORPHA:166002
1298	COL9A2	HP:0030973	Postexertional symptom exacerbation	HP:0040282	ORPHA:166002
1298	COL9A2	HP:0003365	Arthralgia of the hip	HP:0040282	ORPHA:166002
1298	COL9A2	HP:0002007	Frontal bossing	1/4	OMIM:600204
1298	COL9A2	HP:0004619	Lumbar kyphoscoliosis	-	OMIM:156550
1298	COL9A2	HP:0003301	Irregular vertebral endplates	HP:0040282	ORPHA:250984
1298	COL9A2	HP:0011800	Midface retrusion	8/8	OMIM:614284
1298	COL9A2	HP:0011800	Midface retrusion	-	OMIM:184840
1298	COL9A2	HP:0011800	Midface retrusion	-	OMIM:156550
1298	COL9A2	HP:0011800	Midface retrusion	1/4	OMIM:600204
1298	COL9A2	HP:0011800	Midface retrusion	9/9	OMIM:154780
1298	COL9A2	HP:0011800	Midface retrusion	HP:0040282	ORPHA:250984
1298	COL9A2	HP:0002098	Respiratory distress	-	OMIM:156550
1298	COL9A2	HP:0003388	Easy fatigability	36/76	OMIM:131300
1298	COL9A2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1298	COL9A2	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:166002
1298	COL9A2	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:250984
1298	COL9A2	HP:0002136	Broad-based gait	1/4	OMIM:600204
1298	COL9A2	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:156550
1298	COL9A2	HP:0010585	Small epiphyses	-	OMIM:600204
1298	COL9A2	HP:0008271	Abnormal cartilage collagen	-	OMIM:156550
1298	COL9A2	HP:0010580	Enlarged epiphyses	-	OMIM:184840
1298	COL9A2	HP:0010582	Irregular epiphyses	-	OMIM:600204
1298	COL9A2	HP:0003577	Congenital onset	1/1	OMIM:156550
1298	COL9A2	HP:0010665	Bilateral coxa valga	HP:0040283	ORPHA:166002
1298	COL9A2	HP:0010631	Abnormality of the epiphyses of the feet	HP:0040283	ORPHA:166002
1298	COL9A2	HP:0003510	Severe short stature	7/7	OMIM:615777
1298	COL9A2	HP:0003502	Mild short stature	-	OMIM:600204
1298	COL9A2	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:156550
1298	COL9A2	HP:0002315	Headache	-	OMIM:131300
1298	COL9A2	HP:0004976	Knee dislocation	6/7	OMIM:615777
1298	COL9A2	HP:0200003	Splayed epiphyses	-	OMIM:156550
1298	COL9A2	HP:0009826	Limb undergrowth	HP:0040282	ORPHA:166002
1298	COL9A2	HP:0009804	Tooth agenesis	1/4	OMIM:600204
1298	COL9A2	HP:0009803	Short phalanx of finger	-	OMIM:615777
1298	COL9A2	HP:0100694	Tibial torsion	1/4	OMIM:600204
1298	COL9A2	HP:0009763	Limb pain	63/92	OMIM:131300
1298	COL9A2	HP:0003621	Juvenile onset	8/19	OMIM:180100
1298	COL9A2	HP:0003621	Juvenile onset	-	OMIM:131300
1298	COL9A2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1298	COL9A2	HP:0004209	Clinodactyly of the 5th finger	2/9	OMIM:154780
1298	COL9A2	HP:0004279	Short palm	-	OMIM:600204
1298	COL9A2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1298	COL9A2	HP:6001056	Out-toeing	-	OMIM:131300
1298	COL9A2	HP:0000651	Diplopia	-	OMIM:131300
1298	COL9A2	HP:0000648	Optic atrophy	-	OMIM:143200
1298	COL9A2	HP:0001956	Truncal obesity	2/7	OMIM:615777
1298	COL9A2	HP:0001903	Anemia	HP:0040283	OMIM:131300
1298	COL9A2	HP:0010049	Short metacarpal	-	OMIM:615777
1298	COL9A2	HP:0030490	Exudative vitreoretinopathy	HP:0040283	OMIM:143200
1298	COL9A2	HP:0000678	Dental crowding	-	OMIM:615777
1298	COL9A2	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:154780
1298	COL9A2	HP:0000662	Nyctalopia	26/28	OMIM:180100
1298	COL9A2	HP:0000670	Carious teeth	-	OMIM:131300
1298	COL9A2	HP:0011304	Broad thumb	2/7	OMIM:615777
1298	COL9A2	HP:0000668	Hypodontia	-	OMIM:615777
1298	COL9A2	HP:0000664	Synophrys	-	OMIM:615777
1298	COL9A2	HP:0004322	Short stature	HP:0040283	ORPHA:166002
1298	COL9A2	HP:0004322	Short stature	8/8	OMIM:614284
1298	COL9A2	HP:0004322	Short stature	-	OMIM:154780
1298	COL9A2	HP:0004327	Abnormal vitreous humor morphology	HP:0040282	ORPHA:250984
1298	COL9A2	HP:0030663	Optically empty vitreous	-	OMIM:143200
1298	COL9A2	HP:0003071	Flattened epiphysis	-	OMIM:600204
1298	COL9A2	HP:0003088	Premature osteoarthritis	-	OMIM:184840
1298	COL9A2	HP:0004396	Poor appetite	-	OMIM:131300
1298	COL9A2	HP:0003037	Enlarged joints	-	OMIM:156550
1298	COL9A2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1298	COL9A2	HP:0003031	Ulnar bowing	-	OMIM:154780
1298	COL9A2	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:166002
1298	COL9A2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1298	COL9A2	HP:0003045	Abnormal patella morphology	HP:0040283	ORPHA:166002
1298	COL9A2	HP:0003015	Flared metaphysis	-	OMIM:156550
1298	COL9A2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1298	COL9A2	HP:0003026	Short long bone	7/7	OMIM:615777
1298	COL9A2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1298	COL9A2	HP:0000767	Pectus excavatum	1/1	OMIM:156550
1298	COL9A2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1298	COL9A2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1298	COL9A2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1298	COL9A2	HP:0000750	Delayed speech and language development	-	OMIM:615777
1298	COL9A2	HP:0009189	Fragmentation of the metacarpal epiphyses	HP:0040283	ORPHA:166002
1298	COL9A2	HP:0011463	Childhood onset	3/19	OMIM:180100
1298	COL9A2	HP:0011463	Childhood onset	-	OMIM:614284
1298	COL9A2	HP:0011463	Childhood onset	4/4	OMIM:600204
1298	COL9A2	HP:0011462	Young adult onset	8/19	OMIM:180100
1298	COL9A2	HP:0011461	Fetal onset	7/7	OMIM:615777
1298	COL9A2	HP:0012770	Reduced arm span	HP:0040282	ORPHA:166002
1298	COL9A2	HP:0000774	Narrow chest	2/7	OMIM:615777
1298	COL9A2	HP:0005715	Flattened knee epiphyses	-	OMIM:600204
1298	COL9A2	HP:0003198	Myopathy	HP:0040284	ORPHA:166002
1298	COL9A2	HP:0003196	Short nose	9/9	OMIM:154780
1298	COL9A2	HP:0000926	Platyspondyly	1/9	OMIM:154780
1298	COL9A2	HP:0000926	Platyspondyly	-	OMIM:184840
1298	COL9A2	HP:0000926	Platyspondyly	HP:0040283	ORPHA:250984
1298	COL9A2	HP:0000926	Platyspondyly	1/7	OMIM:615777
1298	COL9A2	HP:0000926	Platyspondyly	1/1	OMIM:156550
1298	COL9A2	HP:0003180	Flat acetabular roof	-	OMIM:615777
1298	COL9A2	HP:0004482	Relative macrocephaly	-	OMIM:615777
1298	COL9A2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1298	COL9A2	HP:0000823	Delayed puberty	-	OMIM:131300
1298	COL9A2	HP:0040025	Clinodactyly of the 4th finger	2/9	OMIM:154780
1298	COL9A2	HP:0000894	Short clavicles	-	OMIM:615777
1298	COL9A2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1298	COL9A2	HP:0003273	Hip contracture	-	OMIM:156550
1298	COL9A2	HP:0030839	Knee pain	3/4	OMIM:600204
1298	COL9A2	HP:0030839	Knee pain	HP:0040282	ORPHA:166002
1298	COL9A2	HP:0100250	Meningeal calcification	-	OMIM:154780
1298	COL9A2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1298	COL9A2	HP:0000947	Dumbbell-shaped long bone	-	OMIM:156550
1298	COL9A2	HP:0000946	Hypoplastic ilia	-	OMIM:154780
1298	COL9A2	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:143200
1298	COL9A2	HP:0012283	Small distal femoral epiphysis	-	OMIM:154780
1298	COL9A2	HP:0012284	Small proximal tibial epiphyses	-	OMIM:154780
1298	COL9A2	HP:0000286	Epicanthus	-	OMIM:154780
1298	COL9A2	HP:0000286	Epicanthus	1/7	OMIM:615777
1298	COL9A2	HP:0000280	Coarse facial features	2/7	OMIM:615777
1298	COL9A2	HP:0000272	Malar flattening	-	OMIM:154780
1298	COL9A2	HP:0000272	Malar flattening	27/28	OMIM:184840
1298	COL9A2	HP:0000272	Malar flattening	HP:0040282	ORPHA:250984
1298	COL9A2	HP:0000272	Malar flattening	1/1	OMIM:156550
1298	COL9A2	HP:0006456	Irregular proximal tibial epiphyses	-	OMIM:154780
1298	COL9A2	HP:0007773	Vitreoretinopathy	-	OMIM:154780
1298	COL9A2	HP:0007773	Vitreoretinopathy	8/8	OMIM:614284
1298	COL9A2	HP:0007773	Vitreoretinopathy	HP:0040282	ORPHA:250984
1298	COL9A2	HP:0007773	Vitreoretinopathy	-	OMIM:143200
1298	COL9A2	HP:0006429	Broad femoral neck	HP:0040283	ORPHA:250984
1298	COL9A2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
1298	COL9A2	HP:0006407	Irregular distal femoral epiphysis	-	OMIM:154780
1298	COL9A2	HP:0002815	Abnormality of the knee	HP:0040283	ORPHA:166002
1298	COL9A2	HP:0002812	Coxa vara	HP:0040283	ORPHA:166002
1298	COL9A2	HP:0002812	Coxa vara	-	OMIM:156550
1298	COL9A2	HP:0002829	Arthralgia	20/20	OMIM:184840
1298	COL9A2	HP:0002829	Arthralgia	HP:0040282	ORPHA:250984
1298	COL9A2	HP:0002827	Hip dislocation	3/7	OMIM:615777
1298	COL9A2	HP:0002827	Hip dislocation	-	OMIM:156550
1298	COL9A2	HP:0005086	Knee osteoarthritis	-	OMIM:154780
1298	COL9A2	HP:0005086	Knee osteoarthritis	-	OMIM:600204
1298	COL9A2	HP:0006375	Dumbbell-shaped femur	1/1	OMIM:156550
1298	COL9A2	HP:0006361	Irregular femoral epiphysis	-	OMIM:154780
1298	COL9A2	HP:0000252	Microcephaly	-	OMIM:615777
1298	COL9A2	HP:0000218	High palate	HP:0040283	ORPHA:250984
1298	COL9A2	HP:0000215	Thick upper lip vermilion	-	OMIM:154780
1298	COL9A2	HP:0002857	Genu valgum	-	OMIM:131300
1298	COL9A2	HP:0002857	Genu valgum	HP:0040283	ORPHA:166002
1298	COL9A2	HP:0001537	Umbilical hernia	-	OMIM:156550
1298	COL9A2	HP:0001533	Slender build	-	OMIM:131300
1298	COL9A2	HP:0000201	Pierre-Robin sequence	4/9	OMIM:154780
1298	COL9A2	HP:0000201	Pierre-Robin sequence	0/8	OMIM:614284
1298	COL9A2	HP:0000201	Pierre-Robin sequence	-	OMIM:184840
1298	COL9A2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1298	COL9A2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
1298	COL9A2	HP:0007807	Optic nerve compression	-	OMIM:131300
1298	COL9A2	HP:0012378	Fatigue	2/4	OMIM:600204
1298	COL9A2	HP:0012368	Flat face	7/7	OMIM:615777
1298	COL9A2	HP:0012368	Flat face	HP:0040281	ORPHA:250984
1298	COL9A2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1298	COL9A2	HP:0000365	Hearing impairment	10/67	OMIM:131300
1298	COL9A2	HP:0011003	High myopia	8/8	OMIM:614284
1298	COL9A2	HP:0011003	High myopia	HP:0040281	ORPHA:250984
1298	COL9A2	HP:0000369	Low-set ears	-	OMIM:154780
1298	COL9A2	HP:0000343	Long philtrum	-	OMIM:154780
1298	COL9A2	HP:0000343	Long philtrum	1/7	OMIM:615777
1298	COL9A2	HP:0011001	Increased bone mineral density	-	OMIM:131300
1298	COL9A2	HP:0000347	Micrognathia	-	OMIM:154780
1298	COL9A2	HP:0000347	Micrognathia	HP:0040282	ORPHA:250984
1298	COL9A2	HP:0002982	Tibial bowing	1/1	OMIM:156550
1298	COL9A2	HP:0000316	Hypertelorism	-	OMIM:154780
1298	COL9A2	HP:0000311	Round face	2/7	OMIM:615777
1298	COL9A2	HP:0000311	Round face	-	OMIM:156550
1298	COL9A2	HP:0000331	Short chin	8/8	OMIM:614284
1298	COL9A2	HP:0002986	Radial bowing	-	OMIM:154780
1298	COL9A2	HP:0002970	Genu varum	1/4	OMIM:600204
1298	COL9A2	HP:0002970	Genu varum	HP:0040283	ORPHA:166002
1298	COL9A2	HP:0002970	Genu varum	-	OMIM:615777
1298	COL9A2	HP:0002970	Genu varum	1/1	OMIM:156550
1298	COL9A2	HP:0000303	Mandibular prognathia	-	OMIM:131300
1298	COL9A2	HP:0007992	Lattice retinal degeneration	HP:0040283	ORPHA:250984
1298	COL9A2	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:154780
1298	COL9A2	HP:0000407	Sensorineural hearing impairment	8/8	OMIM:614284
1298	COL9A2	HP:0000407	Sensorineural hearing impairment	16/28	OMIM:184840
1298	COL9A2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:250984
1298	COL9A2	HP:0000403	Recurrent otitis media	4/9	OMIM:154780
1298	COL9A2	HP:0000403	Recurrent otitis media	-	OMIM:156550
1298	COL9A2	HP:0000405	Conductive hearing impairment	-	OMIM:156550
1298	COL9A2	HP:0005280	Depressed nasal bridge	27/28	OMIM:184840
1298	COL9A2	HP:0005280	Depressed nasal bridge	-	OMIM:156550
1298	COL9A2	HP:0005280	Depressed nasal bridge	9/9	OMIM:154780
1298	COL9A2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1298	COL9A2	HP:0000478	Abnormality of the eye	0/3	OMIM:184840
1298	COL9A2	HP:0000463	Anteverted nares	27/28	OMIM:184840
1298	COL9A2	HP:0000463	Anteverted nares	-	OMIM:154780
1298	COL9A2	HP:0000470	Short neck	-	OMIM:156550
1298	COL9A2	HP:0000470	Short neck	1/7	OMIM:615777
1298	COL9A2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1298	COL9A2	HP:0001763	Pes planus	1/7	OMIM:615777
1298	COL9A2	HP:0025707	Hypoplastic fetal nasal bone	-	OMIM:154780
1298	COL9A2	HP:0005462	Calcification of falx cerebri	-	OMIM:154780
1298	COL9A2	HP:0000518	Cataract	0/8	OMIM:614284
1298	COL9A2	HP:0000518	Cataract	-	OMIM:156550
1298	COL9A2	HP:0000518	Cataract	-	OMIM:143200
1298	COL9A2	HP:0000518	Cataract	9/9	OMIM:154780
1298	COL9A2	HP:0000518	Cataract	HP:0040282	ORPHA:250984
1298	COL9A2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
1298	COL9A2	HP:0001840	Metatarsus adductus	-	OMIM:615777
1298	COL9A2	HP:0000520	Proptosis	2/4	OMIM:131300
1298	COL9A2	HP:0000520	Proptosis	7/7	OMIM:615777
1298	COL9A2	HP:0000520	Proptosis	-	OMIM:156550
1298	COL9A2	HP:0000501	Glaucoma	-	OMIM:154780
1298	COL9A2	HP:0000501	Glaucoma	-	OMIM:143200
1298	COL9A2	HP:0000575	Scotoma	5/18	OMIM:180100
1298	COL9A2	HP:0000592	Blue sclerae	2/7	OMIM:615777
1298	COL9A2	HP:0000572	Visual loss	-	OMIM:143200
1298	COL9A2	HP:0000565	Esotropia	-	OMIM:154780
1298	COL9A2	HP:0000541	Retinal detachment	-	OMIM:154780
1298	COL9A2	HP:0000541	Retinal detachment	8/8	OMIM:614284
1298	COL9A2	HP:0000541	Retinal detachment	-	OMIM:156550
1298	COL9A2	HP:0000541	Retinal detachment	HP:0040283	ORPHA:250984
1298	COL9A2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1298	COL9A2	HP:0000533	Chorioretinal atrophy	-	OMIM:143200
1298	COL9A2	HP:0012514	Lower limb pain	4/4	OMIM:131300
1298	COL9A2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
1298	COL9A2	HP:0000545	Myopia	-	OMIM:180100
1298	COL9A2	HP:0000545	Myopia	1/1	OMIM:156550
1298	COL9A2	HP:0000545	Myopia	-	OMIM:143200
1298	COL9A2	HP:0000545	Myopia	9/9	OMIM:154780
1298	COL9A2	HP:0000545	Myopia	HP:0040282	ORPHA:250984
1299	COL9A3	HP:0001123	Visual field defect	-	OMIM:143200
1299	COL9A3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1299	COL9A3	HP:0003701	Proximal muscle weakness	-	OMIM:600969
1299	COL9A3	HP:0001293	Cranial nerve compression	-	OMIM:131300
1299	COL9A3	HP:0001270	Motor delay	-	OMIM:156550
1299	COL9A3	HP:0001288	Gait disturbance	-	OMIM:156550
1299	COL9A3	HP:0001252	Hypotonia	2/7	OMIM:615777
1299	COL9A3	HP:0001249	Intellectual disability	3/3	OMIM:620022
1299	COL9A3	HP:0001249	Intellectual disability	5/7	OMIM:615777
1299	COL9A3	HP:0001263	Global developmental delay	-	OMIM:615777
1299	COL9A3	HP:0006055	Ulnar deviated club hands	HP:0040283	ORPHA:166002
1299	COL9A3	HP:0002515	Waddling gait	HP:0040283	ORPHA:166002
1299	COL9A3	HP:0002515	Waddling gait	54/102	OMIM:131300
1299	COL9A3	HP:0006095	Wide tufts of distal phalanges	-	OMIM:154780
1299	COL9A3	HP:0001377	Limited elbow extension	2/8	OMIM:600969
1299	COL9A3	HP:0001376	Limitation of joint mobility	-	OMIM:156550
1299	COL9A3	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:250984
1299	COL9A3	HP:0001382	Joint hypermobility	-	OMIM:615777
1299	COL9A3	HP:0001384	Abnormal hip joint morphology	-	OMIM:600969
1299	COL9A3	HP:0012019	Lens luxation	-	OMIM:154780
1299	COL9A3	HP:0000023	Inguinal hernia	-	OMIM:156550
1299	COL9A3	HP:0002684	Thickened calvaria	-	OMIM:154780
1299	COL9A3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1299	COL9A3	HP:0002688	Absent frontal sinuses	-	OMIM:154780
1299	COL9A3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1299	COL9A3	HP:0008839	Hypoplastic pelvis	-	OMIM:156550
1299	COL9A3	HP:0006190	Radially deviated wrists	HP:0040283	ORPHA:166002
1299	COL9A3	HP:0006172	Flattened, squared-off epiphyses of tubular bones	-	OMIM:156550
1299	COL9A3	HP:0002663	Delayed epiphyseal ossification	-	OMIM:156550
1299	COL9A3	HP:0002663	Delayed epiphyseal ossification	-	OMIM:600969
1299	COL9A3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1299	COL9A3	HP:0002656	Epiphyseal dysplasia	-	OMIM:184840
1299	COL9A3	HP:0002656	Epiphyseal dysplasia	-	OMIM:600969
1299	COL9A3	HP:0002656	Epiphyseal dysplasia	HP:0040281	ORPHA:250984
1299	COL9A3	HP:0001324	Muscle weakness	HP:0040284	ORPHA:166002
1299	COL9A3	HP:0001324	Muscle weakness	40/96	OMIM:131300
1299	COL9A3	HP:0002655	Spondyloepiphyseal dysplasia	HP:0040283	ORPHA:250984
1299	COL9A3	HP:0002673	Coxa valga	-	OMIM:154780
1299	COL9A3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1299	COL9A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1299	COL9A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:620022
1299	COL9A3	HP:0003999	Abnormality of radial epiphyses	HP:0040283	ORPHA:166002
1299	COL9A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:600969
1299	COL9A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:154780
1299	COL9A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:156550
1299	COL9A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:143200
1299	COL9A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1299	COL9A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:184840
1299	COL9A3	HP:0002650	Scoliosis	12/14	OMIM:131300
1299	COL9A3	HP:0002650	Scoliosis	HP:0040283	ORPHA:250984
1299	COL9A3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1299	COL9A3	HP:0003946	Abnormality of the epiphyses of the elbow	HP:0040283	ORPHA:166002
1299	COL9A3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1299	COL9A3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1299	COL9A3	HP:0008905	Rhizomelia	1/1	OMIM:156550
1299	COL9A3	HP:0000179	Thick lower lip vermilion	-	OMIM:154780
1299	COL9A3	HP:0000193	Bifid uvula	4/9	OMIM:154780
1299	COL9A3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1299	COL9A3	HP:0000175	Cleft palate	-	OMIM:184840
1299	COL9A3	HP:0000175	Cleft palate	1/1	OMIM:156550
1299	COL9A3	HP:0000175	Cleft palate	4/9	OMIM:154780
1299	COL9A3	HP:0000175	Cleft palate	HP:0040284	ORPHA:250984
1299	COL9A3	HP:0000175	Cleft palate	2/7	OMIM:615777
1299	COL9A3	HP:0007643	Peripheral tractional retinal detachment	-	OMIM:143200
1299	COL9A3	HP:0002779	Tracheomalacia	-	OMIM:156550
1299	COL9A3	HP:0002758	Osteoarthritis	-	OMIM:600969
1299	COL9A3	HP:0002758	Osteoarthritis	HP:0040283	ORPHA:166002
1299	COL9A3	HP:0030973	Postexertional symptom exacerbation	HP:0040282	ORPHA:166002
1299	COL9A3	HP:0003365	Arthralgia of the hip	HP:0040282	ORPHA:166002
1299	COL9A3	HP:0004619	Lumbar kyphoscoliosis	-	OMIM:156550
1299	COL9A3	HP:0003301	Irregular vertebral endplates	HP:0040282	ORPHA:250984
1299	COL9A3	HP:0011800	Midface retrusion	-	OMIM:184840
1299	COL9A3	HP:0011800	Midface retrusion	-	OMIM:156550
1299	COL9A3	HP:0011800	Midface retrusion	2/3	OMIM:620022
1299	COL9A3	HP:0011800	Midface retrusion	9/9	OMIM:154780
1299	COL9A3	HP:0011800	Midface retrusion	HP:0040282	ORPHA:250984
1299	COL9A3	HP:0002098	Respiratory distress	-	OMIM:156550
1299	COL9A3	HP:0003388	Easy fatigability	36/76	OMIM:131300
1299	COL9A3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1299	COL9A3	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:166002
1299	COL9A3	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:250984
1299	COL9A3	HP:0008180	Mildly elevated creatine kinase	-	OMIM:600969
1299	COL9A3	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:156550
1299	COL9A3	HP:0010585	Small epiphyses	-	OMIM:600969
1299	COL9A3	HP:0008271	Abnormal cartilage collagen	-	OMIM:156550
1299	COL9A3	HP:0010580	Enlarged epiphyses	-	OMIM:184840
1299	COL9A3	HP:0010582	Irregular epiphyses	-	OMIM:600969
1299	COL9A3	HP:0003577	Congenital onset	1/1	OMIM:156550
1299	COL9A3	HP:0010665	Bilateral coxa valga	HP:0040283	ORPHA:166002
1299	COL9A3	HP:0010631	Abnormality of the epiphyses of the feet	HP:0040283	ORPHA:166002
1299	COL9A3	HP:0003510	Severe short stature	7/7	OMIM:615777
1299	COL9A3	HP:0003502	Mild short stature	-	OMIM:600969
1299	COL9A3	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:156550
1299	COL9A3	HP:0002315	Headache	-	OMIM:131300
1299	COL9A3	HP:0004976	Knee dislocation	6/7	OMIM:615777
1299	COL9A3	HP:0200003	Splayed epiphyses	-	OMIM:156550
1299	COL9A3	HP:0009826	Limb undergrowth	HP:0040282	ORPHA:166002
1299	COL9A3	HP:0009803	Short phalanx of finger	-	OMIM:615777
1299	COL9A3	HP:0009763	Limb pain	63/92	OMIM:131300
1299	COL9A3	HP:0003621	Juvenile onset	-	OMIM:131300
1299	COL9A3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1299	COL9A3	HP:0004209	Clinodactyly of the 5th finger	2/9	OMIM:154780
1299	COL9A3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1299	COL9A3	HP:6001056	Out-toeing	-	OMIM:131300
1299	COL9A3	HP:0000651	Diplopia	-	OMIM:131300
1299	COL9A3	HP:0000648	Optic atrophy	-	OMIM:143200
1299	COL9A3	HP:0001956	Truncal obesity	2/7	OMIM:615777
1299	COL9A3	HP:0001903	Anemia	HP:0040283	OMIM:131300
1299	COL9A3	HP:0010049	Short metacarpal	-	OMIM:615777
1299	COL9A3	HP:0010049	Short metacarpal	-	OMIM:600969
1299	COL9A3	HP:0030490	Exudative vitreoretinopathy	HP:0040283	OMIM:143200
1299	COL9A3	HP:0000678	Dental crowding	-	OMIM:615777
1299	COL9A3	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:154780
1299	COL9A3	HP:0000670	Carious teeth	-	OMIM:131300
1299	COL9A3	HP:0011304	Broad thumb	2/7	OMIM:615777
1299	COL9A3	HP:0000668	Hypodontia	-	OMIM:615777
1299	COL9A3	HP:0000664	Synophrys	-	OMIM:615777
1299	COL9A3	HP:0004322	Short stature	HP:0040283	ORPHA:166002
1299	COL9A3	HP:0004322	Short stature	-	OMIM:154780
1299	COL9A3	HP:0004327	Abnormal vitreous humor morphology	HP:0040282	ORPHA:250984
1299	COL9A3	HP:0030663	Optically empty vitreous	-	OMIM:143200
1299	COL9A3	HP:0003088	Premature osteoarthritis	-	OMIM:184840
1299	COL9A3	HP:0003066	Limited knee extension	4/8	OMIM:600969
1299	COL9A3	HP:0004396	Poor appetite	-	OMIM:131300
1299	COL9A3	HP:0003037	Enlarged joints	-	OMIM:156550
1299	COL9A3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1299	COL9A3	HP:0003031	Ulnar bowing	-	OMIM:154780
1299	COL9A3	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:166002
1299	COL9A3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1299	COL9A3	HP:0003045	Abnormal patella morphology	HP:0040283	ORPHA:166002
1299	COL9A3	HP:0003015	Flared metaphysis	-	OMIM:156550
1299	COL9A3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1299	COL9A3	HP:0003026	Short long bone	7/7	OMIM:615777
1299	COL9A3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1299	COL9A3	HP:0000767	Pectus excavatum	1/1	OMIM:156550
1299	COL9A3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1299	COL9A3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1299	COL9A3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1299	COL9A3	HP:0000750	Delayed speech and language development	-	OMIM:615777
1299	COL9A3	HP:0009189	Fragmentation of the metacarpal epiphyses	HP:0040283	ORPHA:166002
1299	COL9A3	HP:0011461	Fetal onset	7/7	OMIM:615777
1299	COL9A3	HP:0012770	Reduced arm span	HP:0040282	ORPHA:166002
1299	COL9A3	HP:0000774	Narrow chest	2/7	OMIM:615777
1299	COL9A3	HP:0003198	Myopathy	HP:0040284	ORPHA:166002
1299	COL9A3	HP:0003196	Short nose	9/9	OMIM:154780
1299	COL9A3	HP:0000926	Platyspondyly	1/9	OMIM:154780
1299	COL9A3	HP:0000926	Platyspondyly	-	OMIM:184840
1299	COL9A3	HP:0000926	Platyspondyly	HP:0040283	ORPHA:250984
1299	COL9A3	HP:0000926	Platyspondyly	1/7	OMIM:615777
1299	COL9A3	HP:0000926	Platyspondyly	1/1	OMIM:156550
1299	COL9A3	HP:0003180	Flat acetabular roof	-	OMIM:615777
1299	COL9A3	HP:0004482	Relative macrocephaly	-	OMIM:615777
1299	COL9A3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1299	COL9A3	HP:0000823	Delayed puberty	-	OMIM:131300
1299	COL9A3	HP:0040025	Clinodactyly of the 4th finger	2/9	OMIM:154780
1299	COL9A3	HP:0000894	Short clavicles	-	OMIM:615777
1299	COL9A3	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:600969
1299	COL9A3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1299	COL9A3	HP:0003273	Hip contracture	-	OMIM:156550
1299	COL9A3	HP:0030839	Knee pain	6/8	OMIM:600969
1299	COL9A3	HP:0030839	Knee pain	HP:0040282	ORPHA:166002
1299	COL9A3	HP:0100250	Meningeal calcification	-	OMIM:154780
1299	COL9A3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1299	COL9A3	HP:0034372	Internal tibial torsion	3/3	OMIM:620022
1299	COL9A3	HP:0000947	Dumbbell-shaped long bone	-	OMIM:156550
1299	COL9A3	HP:0000946	Hypoplastic ilia	-	OMIM:154780
1299	COL9A3	HP:0008081	Pes valgus	3/3	OMIM:620022
1299	COL9A3	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:143200
1299	COL9A3	HP:0012283	Small distal femoral epiphysis	-	OMIM:154780
1299	COL9A3	HP:0012284	Small proximal tibial epiphyses	-	OMIM:154780
1299	COL9A3	HP:0000286	Epicanthus	-	OMIM:154780
1299	COL9A3	HP:0000286	Epicanthus	1/7	OMIM:615777
1299	COL9A3	HP:0000280	Coarse facial features	2/7	OMIM:615777
1299	COL9A3	HP:0000272	Malar flattening	-	OMIM:154780
1299	COL9A3	HP:0000272	Malar flattening	27/28	OMIM:184840
1299	COL9A3	HP:0000272	Malar flattening	HP:0040282	ORPHA:250984
1299	COL9A3	HP:0000272	Malar flattening	1/1	OMIM:156550
1299	COL9A3	HP:0006456	Irregular proximal tibial epiphyses	-	OMIM:154780
1299	COL9A3	HP:0007773	Vitreoretinopathy	-	OMIM:154780
1299	COL9A3	HP:0007773	Vitreoretinopathy	HP:0040282	ORPHA:250984
1299	COL9A3	HP:0007773	Vitreoretinopathy	-	OMIM:143200
1299	COL9A3	HP:0006429	Broad femoral neck	HP:0040283	ORPHA:250984
1299	COL9A3	HP:0006407	Irregular distal femoral epiphysis	-	OMIM:154780
1299	COL9A3	HP:0002815	Abnormality of the knee	HP:0040283	ORPHA:166002
1299	COL9A3	HP:0002812	Coxa vara	HP:0040283	ORPHA:166002
1299	COL9A3	HP:0002812	Coxa vara	-	OMIM:156550
1299	COL9A3	HP:0002829	Arthralgia	20/20	OMIM:184840
1299	COL9A3	HP:0002829	Arthralgia	HP:0040282	ORPHA:250984
1299	COL9A3	HP:0002827	Hip dislocation	3/7	OMIM:615777
1299	COL9A3	HP:0002827	Hip dislocation	-	OMIM:156550
1299	COL9A3	HP:0005086	Knee osteoarthritis	-	OMIM:154780
1299	COL9A3	HP:0006375	Dumbbell-shaped femur	1/1	OMIM:156550
1299	COL9A3	HP:0006361	Irregular femoral epiphysis	-	OMIM:154780
1299	COL9A3	HP:0000252	Microcephaly	-	OMIM:615777
1299	COL9A3	HP:0000218	High palate	HP:0040283	ORPHA:250984
1299	COL9A3	HP:0000215	Thick upper lip vermilion	-	OMIM:154780
1299	COL9A3	HP:0002857	Genu valgum	-	OMIM:131300
1299	COL9A3	HP:0002857	Genu valgum	HP:0040283	ORPHA:166002
1299	COL9A3	HP:0001537	Umbilical hernia	-	OMIM:156550
1299	COL9A3	HP:0001533	Slender build	-	OMIM:131300
1299	COL9A3	HP:0000201	Pierre-Robin sequence	4/9	OMIM:154780
1299	COL9A3	HP:0000201	Pierre-Robin sequence	-	OMIM:184840
1299	COL9A3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1299	COL9A3	HP:0007807	Optic nerve compression	-	OMIM:131300
1299	COL9A3	HP:0012368	Flat face	7/7	OMIM:615777
1299	COL9A3	HP:0012368	Flat face	HP:0040281	ORPHA:250984
1299	COL9A3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1299	COL9A3	HP:0000365	Hearing impairment	10/67	OMIM:131300
1299	COL9A3	HP:0011003	High myopia	2/3	OMIM:620022
1299	COL9A3	HP:0011003	High myopia	HP:0040281	ORPHA:250984
1299	COL9A3	HP:0000369	Low-set ears	-	OMIM:154780
1299	COL9A3	HP:0000343	Long philtrum	-	OMIM:154780
1299	COL9A3	HP:0000343	Long philtrum	1/7	OMIM:615777
1299	COL9A3	HP:0011001	Increased bone mineral density	-	OMIM:131300
1299	COL9A3	HP:0000347	Micrognathia	-	OMIM:154780
1299	COL9A3	HP:0000347	Micrognathia	HP:0040282	ORPHA:250984
1299	COL9A3	HP:0002982	Tibial bowing	1/1	OMIM:156550
1299	COL9A3	HP:0000316	Hypertelorism	-	OMIM:154780
1299	COL9A3	HP:0000311	Round face	2/7	OMIM:615777
1299	COL9A3	HP:0000311	Round face	-	OMIM:156550
1299	COL9A3	HP:0002986	Radial bowing	-	OMIM:154780
1299	COL9A3	HP:0002970	Genu varum	HP:0040283	ORPHA:166002
1299	COL9A3	HP:0002970	Genu varum	-	OMIM:615777
1299	COL9A3	HP:0002970	Genu varum	1/1	OMIM:156550
1299	COL9A3	HP:0000303	Mandibular prognathia	-	OMIM:131300
1299	COL9A3	HP:0031624	Moderate myopia	1/3	OMIM:620022
1299	COL9A3	HP:0007992	Lattice retinal degeneration	HP:0040283	ORPHA:250984
1299	COL9A3	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:154780
1299	COL9A3	HP:0000407	Sensorineural hearing impairment	16/28	OMIM:184840
1299	COL9A3	HP:0000407	Sensorineural hearing impairment	3/3	OMIM:620022
1299	COL9A3	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:250984
1299	COL9A3	HP:0000403	Recurrent otitis media	4/9	OMIM:154780
1299	COL9A3	HP:0000403	Recurrent otitis media	-	OMIM:156550
1299	COL9A3	HP:0000405	Conductive hearing impairment	-	OMIM:156550
1299	COL9A3	HP:0005280	Depressed nasal bridge	27/28	OMIM:184840
1299	COL9A3	HP:0005280	Depressed nasal bridge	-	OMIM:156550
1299	COL9A3	HP:0005280	Depressed nasal bridge	2/3	OMIM:620022
1299	COL9A3	HP:0005280	Depressed nasal bridge	9/9	OMIM:154780
1299	COL9A3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1299	COL9A3	HP:0000483	Astigmatism	3/3	OMIM:620022
1299	COL9A3	HP:0000478	Abnormality of the eye	0/3	OMIM:184840
1299	COL9A3	HP:0000494	Downslanted palpebral fissures	2/3	OMIM:620022
1299	COL9A3	HP:0000463	Anteverted nares	27/28	OMIM:184840
1299	COL9A3	HP:0000463	Anteverted nares	-	OMIM:154780
1299	COL9A3	HP:0000470	Short neck	-	OMIM:156550
1299	COL9A3	HP:0000470	Short neck	1/7	OMIM:615777
1299	COL9A3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1299	COL9A3	HP:0001763	Pes planus	3/3	OMIM:620022
1299	COL9A3	HP:0001763	Pes planus	1/7	OMIM:615777
1299	COL9A3	HP:0025707	Hypoplastic fetal nasal bone	-	OMIM:154780
1299	COL9A3	HP:0005462	Calcification of falx cerebri	-	OMIM:154780
1299	COL9A3	HP:0000518	Cataract	-	OMIM:156550
1299	COL9A3	HP:0000518	Cataract	-	OMIM:143200
1299	COL9A3	HP:0000518	Cataract	9/9	OMIM:154780
1299	COL9A3	HP:0000518	Cataract	HP:0040282	ORPHA:250984
1299	COL9A3	HP:0001840	Metatarsus adductus	-	OMIM:615777
1299	COL9A3	HP:0000520	Proptosis	2/4	OMIM:131300
1299	COL9A3	HP:0000520	Proptosis	7/7	OMIM:615777
1299	COL9A3	HP:0000520	Proptosis	-	OMIM:156550
1299	COL9A3	HP:0000508	Ptosis	1/3	OMIM:620022
1299	COL9A3	HP:0000501	Glaucoma	-	OMIM:154780
1299	COL9A3	HP:0000501	Glaucoma	-	OMIM:143200
1299	COL9A3	HP:0000592	Blue sclerae	2/7	OMIM:615777
1299	COL9A3	HP:0000572	Visual loss	-	OMIM:143200
1299	COL9A3	HP:0000565	Esotropia	-	OMIM:154780
1299	COL9A3	HP:0000541	Retinal detachment	-	OMIM:154780
1299	COL9A3	HP:0000541	Retinal detachment	-	OMIM:156550
1299	COL9A3	HP:0000541	Retinal detachment	HP:0040283	ORPHA:250984
1299	COL9A3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1299	COL9A3	HP:0000533	Chorioretinal atrophy	-	OMIM:143200
1299	COL9A3	HP:0012514	Lower limb pain	4/4	OMIM:131300
1299	COL9A3	HP:0000545	Myopia	1/1	OMIM:156550
1299	COL9A3	HP:0000545	Myopia	-	OMIM:143200
1299	COL9A3	HP:0000545	Myopia	9/9	OMIM:154780
1299	COL9A3	HP:0000545	Myopia	HP:0040282	ORPHA:250984
1300	COL10A1	HP:0009882	Short distal phalanx of finger	-	OMIM:156500
1300	COL10A1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1300	COL10A1	HP:0001293	Cranial nerve compression	-	OMIM:131300
1300	COL10A1	HP:0001252	Hypotonia	2/7	OMIM:615777
1300	COL10A1	HP:0001249	Intellectual disability	5/7	OMIM:615777
1300	COL10A1	HP:0001248	Short tubular bones of the hand	HP:0040282	ORPHA:174
1300	COL10A1	HP:0001263	Global developmental delay	-	OMIM:615777
1300	COL10A1	HP:0006028	Metaphyseal cupping of metacarpals	HP:0040282	ORPHA:174
1300	COL10A1	HP:0006028	Metaphyseal cupping of metacarpals	-	OMIM:156500
1300	COL10A1	HP:0002515	Waddling gait	HP:0040281	ORPHA:174
1300	COL10A1	HP:0002515	Waddling gait	54/102	OMIM:131300
1300	COL10A1	HP:0002515	Waddling gait	1/1	OMIM:156500
1300	COL10A1	HP:0025369	Thick growth plates	HP:0040281	ORPHA:174
1300	COL10A1	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:174
1300	COL10A1	HP:0001382	Joint hypermobility	-	OMIM:615777
1300	COL10A1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1300	COL10A1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1300	COL10A1	HP:0006208	Metaphyseal cupping of proximal phalanges	HP:0040282	ORPHA:174
1300	COL10A1	HP:0006208	Metaphyseal cupping of proximal phalanges	-	OMIM:156500
1300	COL10A1	HP:0008873	Disproportionate short-limb short stature	HP:0040282	ORPHA:174
1300	COL10A1	HP:0008833	Irregular acetabular roof	-	OMIM:156500
1300	COL10A1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1300	COL10A1	HP:0001324	Muscle weakness	40/96	OMIM:131300
1300	COL10A1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1300	COL10A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1300	COL10A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:156500
1300	COL10A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1300	COL10A1	HP:0002650	Scoliosis	1/7	OMIM:156500
1300	COL10A1	HP:0002650	Scoliosis	12/14	OMIM:131300
1300	COL10A1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1300	COL10A1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1300	COL10A1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1300	COL10A1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1300	COL10A1	HP:0000175	Cleft palate	2/7	OMIM:615777
1300	COL10A1	HP:0005028	Widened proximal tibial metaphyses	HP:0040282	ORPHA:174
1300	COL10A1	HP:0003301	Irregular vertebral endplates	HP:0040283	ORPHA:174
1300	COL10A1	HP:0003301	Irregular vertebral endplates	-	OMIM:156500
1300	COL10A1	HP:0003371	Enlargement of the proximal femoral epiphysis	7/7	OMIM:156500
1300	COL10A1	HP:0003388	Easy fatigability	36/76	OMIM:131300
1300	COL10A1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1300	COL10A1	HP:0005923	Abnormal hand metaphysis morphology	HP:0040282	ORPHA:174
1300	COL10A1	HP:0003468	Abnormal vertebral morphology	HP:0040283	ORPHA:174
1300	COL10A1	HP:0003411	Proximal femoral metaphyseal irregularity	HP:0040282	ORPHA:174
1300	COL10A1	HP:0003510	Severe short stature	7/7	OMIM:615777
1300	COL10A1	HP:0003508	Proportionate short stature	1/1	OMIM:156500
1300	COL10A1	HP:0003502	Mild short stature	-	OMIM:156500
1300	COL10A1	HP:0004979	Metaphyseal sclerosis	1/1	OMIM:156500
1300	COL10A1	HP:0002315	Headache	-	OMIM:131300
1300	COL10A1	HP:0004976	Knee dislocation	6/7	OMIM:615777
1300	COL10A1	HP:0009852	Broad proximal phalanges of the hand	HP:0040282	ORPHA:174
1300	COL10A1	HP:0009844	Broad middle phalanx of finger	-	OMIM:156500
1300	COL10A1	HP:0009826	Limb undergrowth	HP:0040281	ORPHA:174
1300	COL10A1	HP:0009803	Short phalanx of finger	-	OMIM:615777
1300	COL10A1	HP:0009763	Limb pain	63/92	OMIM:131300
1300	COL10A1	HP:0003621	Juvenile onset	-	OMIM:131300
1300	COL10A1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1300	COL10A1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1300	COL10A1	HP:6001056	Out-toeing	-	OMIM:131300
1300	COL10A1	HP:0000651	Diplopia	-	OMIM:131300
1300	COL10A1	HP:0001956	Truncal obesity	2/7	OMIM:615777
1300	COL10A1	HP:0001903	Anemia	HP:0040283	OMIM:131300
1300	COL10A1	HP:0010049	Short metacarpal	-	OMIM:615777
1300	COL10A1	HP:0000678	Dental crowding	-	OMIM:615777
1300	COL10A1	HP:0000670	Carious teeth	-	OMIM:131300
1300	COL10A1	HP:0011304	Broad thumb	2/7	OMIM:615777
1300	COL10A1	HP:0000668	Hypodontia	-	OMIM:615777
1300	COL10A1	HP:0000664	Synophrys	-	OMIM:615777
1300	COL10A1	HP:0004322	Short stature	9/10	OMIM:156500
1300	COL10A1	HP:0004396	Poor appetite	-	OMIM:131300
1300	COL10A1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1300	COL10A1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1300	COL10A1	HP:0003015	Flared metaphysis	HP:0040282	ORPHA:174
1300	COL10A1	HP:0003016	Metaphyseal widening	1/1	OMIM:156500
1300	COL10A1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1300	COL10A1	HP:0003026	Short long bone	HP:0040282	ORPHA:174
1300	COL10A1	HP:0003026	Short long bone	7/7	OMIM:615777
1300	COL10A1	HP:0003025	Metaphyseal irregularity	1/1	OMIM:156500
1300	COL10A1	HP:0003025	Metaphyseal irregularity	HP:0040281	ORPHA:174
1300	COL10A1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1300	COL10A1	HP:0003021	Metaphyseal cupping	HP:0040281	ORPHA:174
1300	COL10A1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1300	COL10A1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1300	COL10A1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1300	COL10A1	HP:0000750	Delayed speech and language development	-	OMIM:615777
1300	COL10A1	HP:0011463	Childhood onset	8/8	OMIM:156500
1300	COL10A1	HP:0011461	Fetal onset	7/7	OMIM:615777
1300	COL10A1	HP:0000774	Narrow chest	2/7	OMIM:615777
1300	COL10A1	HP:0000926	Platyspondyly	HP:0040283	ORPHA:174
1300	COL10A1	HP:0000926	Platyspondyly	1/7	OMIM:615777
1300	COL10A1	HP:0000926	Platyspondyly	0/7	OMIM:156500
1300	COL10A1	HP:0003180	Flat acetabular roof	-	OMIM:615777
1300	COL10A1	HP:0000907	Anterior rib cupping	HP:0040282	ORPHA:174
1300	COL10A1	HP:0004482	Relative macrocephaly	-	OMIM:615777
1300	COL10A1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1300	COL10A1	HP:0000823	Delayed puberty	-	OMIM:131300
1300	COL10A1	HP:0000894	Short clavicles	-	OMIM:615777
1300	COL10A1	HP:0005871	Metaphyseal chondrodysplasia	-	OMIM:156500
1300	COL10A1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1300	COL10A1	HP:0045079	Distal femoral metaphyseal irregularity	HP:0040282	ORPHA:174
1300	COL10A1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1300	COL10A1	HP:0005819	Short middle phalanx of finger	-	OMIM:156500
1300	COL10A1	HP:0000286	Epicanthus	1/7	OMIM:615777
1300	COL10A1	HP:0000280	Coarse facial features	2/7	OMIM:615777
1300	COL10A1	HP:0006429	Broad femoral neck	7/7	OMIM:156500
1300	COL10A1	HP:0006431	Abnormal proximal femoral metaphysis morphology	HP:0040281	ORPHA:174
1300	COL10A1	HP:0006431	Abnormal proximal femoral metaphysis morphology	-	OMIM:156500
1300	COL10A1	HP:0006414	Distal tibial bowing	-	OMIM:156500
1300	COL10A1	HP:0002812	Coxa vara	7/7	OMIM:156500
1300	COL10A1	HP:0002812	Coxa vara	HP:0040281	ORPHA:174
1300	COL10A1	HP:0002829	Arthralgia	HP:0040283	ORPHA:174
1300	COL10A1	HP:0002827	Hip dislocation	3/7	OMIM:615777
1300	COL10A1	HP:0000252	Microcephaly	-	OMIM:615777
1300	COL10A1	HP:0002857	Genu valgum	-	OMIM:131300
1300	COL10A1	HP:0002857	Genu valgum	2/6	OMIM:156500
1300	COL10A1	HP:0001533	Slender build	-	OMIM:131300
1300	COL10A1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1300	COL10A1	HP:0001513	Obesity	HP:0040283	ORPHA:174
1300	COL10A1	HP:0007807	Optic nerve compression	-	OMIM:131300
1300	COL10A1	HP:0012368	Flat face	7/7	OMIM:615777
1300	COL10A1	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:174
1300	COL10A1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1300	COL10A1	HP:0002938	Lumbar hyperlordosis	3/8	OMIM:156500
1300	COL10A1	HP:0000365	Hearing impairment	10/67	OMIM:131300
1300	COL10A1	HP:0000343	Long philtrum	1/7	OMIM:615777
1300	COL10A1	HP:0011001	Increased bone mineral density	-	OMIM:131300
1300	COL10A1	HP:0002980	Femoral bowing	1/1	OMIM:156500
1300	COL10A1	HP:0002980	Femoral bowing	HP:0040282	ORPHA:174
1300	COL10A1	HP:0002979	Bowing of the legs	HP:0040283	ORPHA:174
1300	COL10A1	HP:0000311	Round face	2/7	OMIM:615777
1300	COL10A1	HP:0002970	Genu varum	5/7	OMIM:156500
1300	COL10A1	HP:0002970	Genu varum	HP:0040282	ORPHA:174
1300	COL10A1	HP:0002970	Genu varum	-	OMIM:615777
1300	COL10A1	HP:0000303	Mandibular prognathia	-	OMIM:131300
1300	COL10A1	HP:0006634	Osteosclerosis of ribs	HP:0040282	ORPHA:174
1300	COL10A1	HP:0004042	Ulnar metaphyseal irregularity	HP:0040283	ORPHA:174
1300	COL10A1	HP:0004019	Radial metaphyseal irregularity	HP:0040283	ORPHA:174
1300	COL10A1	HP:0030299	Abnormal distal femoral metaphysis morphology	HP:0040281	ORPHA:174
1300	COL10A1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1300	COL10A1	HP:0000470	Short neck	1/7	OMIM:615777
1300	COL10A1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1300	COL10A1	HP:0001763	Pes planus	1/7	OMIM:615777
1300	COL10A1	HP:0001840	Metatarsus adductus	-	OMIM:615777
1300	COL10A1	HP:0000520	Proptosis	2/4	OMIM:131300
1300	COL10A1	HP:0000520	Proptosis	7/7	OMIM:615777
1300	COL10A1	HP:0000592	Blue sclerae	2/7	OMIM:615777
1300	COL10A1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1300	COL10A1	HP:0012514	Lower limb pain	4/4	OMIM:131300
1301	COL11A1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:440354
1301	COL11A1	HP:0001156	Brachydactyly	HP:0040281	ORPHA:2021
1301	COL11A1	HP:0001166	Arachnodactyly	-	OMIM:604841
1301	COL11A1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
1301	COL11A1	HP:0001123	Visual field defect	-	OMIM:143200
1301	COL11A1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1301	COL11A1	HP:0001293	Cranial nerve compression	-	OMIM:131300
1301	COL11A1	HP:0100807	Long fingers	-	OMIM:604841
1301	COL11A1	HP:0001270	Motor delay	-	OMIM:156550
1301	COL11A1	HP:0001288	Gait disturbance	-	OMIM:156550
1301	COL11A1	HP:0001252	Hypotonia	1/1	OMIM:604841
1301	COL11A1	HP:0001252	Hypotonia	2/7	OMIM:615777
1301	COL11A1	HP:0001249	Intellectual disability	5/7	OMIM:615777
1301	COL11A1	HP:0001263	Global developmental delay	-	OMIM:615777
1301	COL11A1	HP:0100865	Broad ischia	-	OMIM:228520
1301	COL11A1	HP:0002515	Waddling gait	54/102	OMIM:131300
1301	COL11A1	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:560
1301	COL11A1	HP:0003826	Stillbirth	-	OMIM:228520
1301	COL11A1	HP:0006095	Wide tufts of distal phalanges	-	OMIM:154780
1301	COL11A1	HP:0001376	Limitation of joint mobility	-	OMIM:156550
1301	COL11A1	HP:0001382	Joint hypermobility	9/32	OMIM:604841
1301	COL11A1	HP:0001382	Joint hypermobility	-	OMIM:615777
1301	COL11A1	HP:0012019	Lens luxation	-	OMIM:154780
1301	COL11A1	HP:0000023	Inguinal hernia	-	OMIM:156550
1301	COL11A1	HP:0002684	Thickened calvaria	-	OMIM:154780
1301	COL11A1	HP:0002684	Thickened calvaria	HP:0040282	ORPHA:560
1301	COL11A1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1301	COL11A1	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:2021
1301	COL11A1	HP:0002688	Absent frontal sinuses	-	OMIM:154780
1301	COL11A1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1301	COL11A1	HP:0008839	Hypoplastic pelvis	-	OMIM:156550
1301	COL11A1	HP:0006172	Flattened, squared-off epiphyses of tubular bones	-	OMIM:156550
1301	COL11A1	HP:0002663	Delayed epiphyseal ossification	-	OMIM:156550
1301	COL11A1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1301	COL11A1	HP:0002656	Epiphyseal dysplasia	-	OMIM:184840
1301	COL11A1	HP:0001324	Muscle weakness	40/96	OMIM:131300
1301	COL11A1	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:604841
1301	COL11A1	HP:0002673	Coxa valga	-	OMIM:154780
1301	COL11A1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1301	COL11A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
1301	COL11A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:228520
1301	COL11A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1301	COL11A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
1301	COL11A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:154780
1301	COL11A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:604841
1301	COL11A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:156550
1301	COL11A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:143200
1301	COL11A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1301	COL11A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618533
1301	COL11A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:184840
1301	COL11A1	HP:0002650	Scoliosis	12/14	OMIM:131300
1301	COL11A1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1301	COL11A1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1301	COL11A1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1301	COL11A1	HP:0008905	Rhizomelia	1/1	OMIM:156550
1301	COL11A1	HP:0008905	Rhizomelia	-	OMIM:228520
1301	COL11A1	HP:0008905	Rhizomelia	HP:0040281	ORPHA:440354
1301	COL11A1	HP:0000179	Thick lower lip vermilion	-	OMIM:154780
1301	COL11A1	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:560
1301	COL11A1	HP:0000193	Bifid uvula	1/32	OMIM:604841
1301	COL11A1	HP:0000193	Bifid uvula	4/9	OMIM:154780
1301	COL11A1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1301	COL11A1	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:560
1301	COL11A1	HP:0000160	Narrow mouth	-	OMIM:228520
1301	COL11A1	HP:0000160	Narrow mouth	HP:0040282	ORPHA:2021
1301	COL11A1	HP:0000162	Glossoptosis	HP:0040282	ORPHA:440354
1301	COL11A1	HP:0000175	Cleft palate	-	OMIM:184840
1301	COL11A1	HP:0000175	Cleft palate	-	OMIM:228520
1301	COL11A1	HP:0000175	Cleft palate	HP:0040282	ORPHA:90654
1301	COL11A1	HP:0000175	Cleft palate	HP:0040281	ORPHA:440354
1301	COL11A1	HP:0000175	Cleft palate	8/33	OMIM:604841
1301	COL11A1	HP:0000175	Cleft palate	1/1	OMIM:156550
1301	COL11A1	HP:0000175	Cleft palate	HP:0040282	ORPHA:560
1301	COL11A1	HP:0000175	Cleft palate	4/9	OMIM:154780
1301	COL11A1	HP:0000175	Cleft palate	HP:0040282	ORPHA:2021
1301	COL11A1	HP:0000175	Cleft palate	2/7	OMIM:615777
1301	COL11A1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
1301	COL11A1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
1301	COL11A1	HP:0007643	Peripheral tractional retinal detachment	-	OMIM:143200
1301	COL11A1	HP:0002705	High, narrow palate	3/31	OMIM:604841
1301	COL11A1	HP:0002781	Upper airway obstruction	HP:0040281	ORPHA:440354
1301	COL11A1	HP:0012109	Angle closure glaucoma	1/1	OMIM:604841
1301	COL11A1	HP:0002779	Tracheomalacia	-	OMIM:156550
1301	COL11A1	HP:0002757	Recurrent fractures	1/1	OMIM:604841
1301	COL11A1	HP:0002758	Osteoarthritis	HP:0040282	ORPHA:560
1301	COL11A1	HP:0002738	Hypoplastic frontal sinuses	HP:0040282	ORPHA:560
1301	COL11A1	HP:0002007	Frontal bossing	-	OMIM:228520
1301	COL11A1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:440354
1301	COL11A1	HP:0002007	Frontal bossing	HP:0040283	ORPHA:560
1301	COL11A1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:2021
1301	COL11A1	HP:0004619	Lumbar kyphoscoliosis	-	OMIM:156550
1301	COL11A1	HP:0011800	Midface retrusion	-	OMIM:184840
1301	COL11A1	HP:0011800	Midface retrusion	HP:0040282	ORPHA:440354
1301	COL11A1	HP:0011800	Midface retrusion	19/32	OMIM:604841
1301	COL11A1	HP:0011800	Midface retrusion	-	OMIM:156550
1301	COL11A1	HP:0011800	Midface retrusion	9/9	OMIM:154780
1301	COL11A1	HP:0002098	Respiratory distress	-	OMIM:156550
1301	COL11A1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:2021
1301	COL11A1	HP:0003375	Narrow greater sciatic notch	-	OMIM:228520
1301	COL11A1	HP:0003388	Easy fatigability	36/76	OMIM:131300
1301	COL11A1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1301	COL11A1	HP:0009473	Joint contracture of the hand	-	OMIM:228520
1301	COL11A1	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:156550
1301	COL11A1	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2021
1301	COL11A1	HP:0008271	Abnormal cartilage collagen	-	OMIM:156550
1301	COL11A1	HP:0010580	Enlarged epiphyses	-	OMIM:184840
1301	COL11A1	HP:0003593	Infantile onset	1/1	OMIM:604841
1301	COL11A1	HP:0003577	Congenital onset	3/3	OMIM:228520
1301	COL11A1	HP:0003577	Congenital onset	8/8	OMIM:604841
1301	COL11A1	HP:0003577	Congenital onset	1/1	OMIM:156550
1301	COL11A1	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040281	ORPHA:560
1301	COL11A1	HP:0003510	Severe short stature	7/7	OMIM:615777
1301	COL11A1	HP:0003508	Proportionate short stature	1/1	OMIM:604841
1301	COL11A1	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:156550
1301	COL11A1	HP:0002315	Headache	-	OMIM:131300
1301	COL11A1	HP:0004976	Knee dislocation	6/7	OMIM:615777
1301	COL11A1	HP:0200003	Splayed epiphyses	-	OMIM:156550
1301	COL11A1	HP:0009803	Short phalanx of finger	-	OMIM:615777
1301	COL11A1	HP:0001083	Ectopia lentis	HP:0040282	ORPHA:560
1301	COL11A1	HP:0200055	Small hand	-	OMIM:228520
1301	COL11A1	HP:0008451	Posterior vertebral hypoplasia	-	OMIM:228520
1301	COL11A1	HP:0009763	Limb pain	63/92	OMIM:131300
1301	COL11A1	HP:0003621	Juvenile onset	8/19	OMIM:180100
1301	COL11A1	HP:0003621	Juvenile onset	-	OMIM:131300
1301	COL11A1	HP:0034770	Lumbar hypolordosis	1/1	OMIM:604841
1301	COL11A1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1301	COL11A1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:228520
1301	COL11A1	HP:0004209	Clinodactyly of the 5th finger	2/9	OMIM:154780
1301	COL11A1	HP:0004279	Short palm	-	OMIM:228520
1301	COL11A1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1301	COL11A1	HP:0000639	Nystagmus	HP:0040283	ORPHA:560
1301	COL11A1	HP:6001056	Out-toeing	-	OMIM:131300
1301	COL11A1	HP:0000651	Diplopia	-	OMIM:131300
1301	COL11A1	HP:0000646	Amblyopia	HP:0040282	ORPHA:560
1301	COL11A1	HP:0000648	Optic atrophy	-	OMIM:143200
1301	COL11A1	HP:0001956	Truncal obesity	2/7	OMIM:615777
1301	COL11A1	HP:0001903	Anemia	HP:0040283	OMIM:131300
1301	COL11A1	HP:0010049	Short metacarpal	-	OMIM:615777
1301	COL11A1	HP:0030490	Exudative vitreoretinopathy	HP:0040283	OMIM:143200
1301	COL11A1	HP:0000678	Dental crowding	-	OMIM:615777
1301	COL11A1	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:154780
1301	COL11A1	HP:0000662	Nyctalopia	26/28	OMIM:180100
1301	COL11A1	HP:0000653	Sparse eyelashes	HP:0040283	ORPHA:560
1301	COL11A1	HP:0000670	Carious teeth	-	OMIM:131300
1301	COL11A1	HP:0011304	Broad thumb	2/7	OMIM:615777
1301	COL11A1	HP:0000668	Hypodontia	-	OMIM:615777
1301	COL11A1	HP:0000664	Synophrys	-	OMIM:615777
1301	COL11A1	HP:0004322	Short stature	HP:0040281	ORPHA:2021
1301	COL11A1	HP:0004322	Short stature	HP:0040281	ORPHA:560
1301	COL11A1	HP:0004322	Short stature	-	OMIM:154780
1301	COL11A1	HP:0004327	Abnormal vitreous humor morphology	7/7	OMIM:604841
1301	COL11A1	HP:0004327	Abnormal vitreous humor morphology	HP:0040282	ORPHA:560
1301	COL11A1	HP:0004327	Abnormal vitreous humor morphology	HP:0040281	ORPHA:90654
1301	COL11A1	HP:0005622	Broad long bones	-	OMIM:228520
1301	COL11A1	HP:0030663	Optically empty vitreous	-	OMIM:143200
1301	COL11A1	HP:0003088	Premature osteoarthritis	-	OMIM:184840
1301	COL11A1	HP:0004396	Poor appetite	-	OMIM:131300
1301	COL11A1	HP:0003037	Enlarged joints	-	OMIM:156550
1301	COL11A1	HP:0003038	Fibular hypoplasia	-	OMIM:228520
1301	COL11A1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1301	COL11A1	HP:0003031	Ulnar bowing	-	OMIM:154780
1301	COL11A1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1301	COL11A1	HP:0003040	Arthropathy	-	OMIM:604841
1301	COL11A1	HP:0003015	Flared metaphysis	-	OMIM:156550
1301	COL11A1	HP:0003016	Metaphyseal widening	1/1	OMIM:604841
1301	COL11A1	HP:0003016	Metaphyseal widening	HP:0040282	ORPHA:440354
1301	COL11A1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1301	COL11A1	HP:0003026	Short long bone	7/7	OMIM:615777
1301	COL11A1	HP:0003026	Short long bone	-	OMIM:228520
1301	COL11A1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1301	COL11A1	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:2021
1301	COL11A1	HP:0000767	Pectus excavatum	1/1	OMIM:156550
1301	COL11A1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1301	COL11A1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1301	COL11A1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1301	COL11A1	HP:0000750	Delayed speech and language development	-	OMIM:615777
1301	COL11A1	HP:0011463	Childhood onset	3/19	OMIM:180100
1301	COL11A1	HP:0011462	Young adult onset	8/19	OMIM:180100
1301	COL11A1	HP:0011461	Fetal onset	7/7	OMIM:615777
1301	COL11A1	HP:0000774	Narrow chest	HP:0040281	ORPHA:2021
1301	COL11A1	HP:0000774	Narrow chest	HP:0040281	ORPHA:440354
1301	COL11A1	HP:0000774	Narrow chest	2/7	OMIM:615777
1301	COL11A1	HP:0000773	Short ribs	-	OMIM:228520
1301	COL11A1	HP:0000773	Short ribs	HP:0040281	ORPHA:2021
1301	COL11A1	HP:0003196	Short nose	-	OMIM:228520
1301	COL11A1	HP:0003196	Short nose	HP:0040281	ORPHA:560
1301	COL11A1	HP:0003196	Short nose	9/9	OMIM:154780
1301	COL11A1	HP:0000926	Platyspondyly	1/9	OMIM:154780
1301	COL11A1	HP:0000926	Platyspondyly	-	OMIM:184840
1301	COL11A1	HP:0000926	Platyspondyly	-	OMIM:228520
1301	COL11A1	HP:0000926	Platyspondyly	1/7	OMIM:615777
1301	COL11A1	HP:0000926	Platyspondyly	1/1	OMIM:156550
1301	COL11A1	HP:0000922	Posterior rib cupping	-	OMIM:228520
1301	COL11A1	HP:0003175	Hypoplastic ischia	-	OMIM:228520
1301	COL11A1	HP:0003180	Flat acetabular roof	-	OMIM:615777
1301	COL11A1	HP:0000907	Anterior rib cupping	-	OMIM:228520
1301	COL11A1	HP:0004482	Relative macrocephaly	-	OMIM:615777
1301	COL11A1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1301	COL11A1	HP:0000882	Hypoplastic scapulae	-	OMIM:228520
1301	COL11A1	HP:0000882	Hypoplastic scapulae	HP:0040282	ORPHA:2021
1301	COL11A1	HP:0000882	Hypoplastic scapulae	HP:0040282	ORPHA:440354
1301	COL11A1	HP:0000890	Long clavicles	-	OMIM:228520
1301	COL11A1	HP:0000883	Thin ribs	-	OMIM:228520
1301	COL11A1	HP:0000885	Broad ribs	HP:0040281	ORPHA:2021
1301	COL11A1	HP:0003097	Short femur	HP:0040282	ORPHA:440354
1301	COL11A1	HP:0000823	Delayed puberty	-	OMIM:131300
1301	COL11A1	HP:0040025	Clinodactyly of the 4th finger	2/9	OMIM:154780
1301	COL11A1	HP:0000894	Short clavicles	-	OMIM:615777
1301	COL11A1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1301	COL11A1	HP:0003273	Hip contracture	-	OMIM:156550
1301	COL11A1	HP:0045075	Sparse eyebrow	HP:0040283	ORPHA:560
1301	COL11A1	HP:6000015	Tympanic membrane hypermobility	HP:0040282	ORPHA:90654
1301	COL11A1	HP:6000015	Tympanic membrane hypermobility	16/65	OMIM:604841
1301	COL11A1	HP:0030839	Knee pain	1/1	OMIM:604841
1301	COL11A1	HP:0030840	Ankle pain	1/1	OMIM:604841
1301	COL11A1	HP:0100250	Meningeal calcification	-	OMIM:154780
1301	COL11A1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1301	COL11A1	HP:0000966	Hypohidrosis	HP:0040282	ORPHA:560
1301	COL11A1	HP:0000947	Dumbbell-shaped long bone	-	OMIM:156550
1301	COL11A1	HP:0000947	Dumbbell-shaped long bone	-	OMIM:228520
1301	COL11A1	HP:0000947	Dumbbell-shaped long bone	HP:0040282	ORPHA:440354
1301	COL11A1	HP:0000946	Hypoplastic ilia	-	OMIM:154780
1301	COL11A1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2021
1301	COL11A1	HP:0000940	Abnormal diaphysis morphology	HP:0040281	ORPHA:2021
1301	COL11A1	HP:0008070	Sparse hair	HP:0040282	ORPHA:560
1301	COL11A1	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:143200
1301	COL11A1	HP:0012283	Small distal femoral epiphysis	-	OMIM:154780
1301	COL11A1	HP:0012284	Small proximal tibial epiphyses	-	OMIM:154780
1301	COL11A1	HP:0000286	Epicanthus	-	OMIM:154780
1301	COL11A1	HP:0000286	Epicanthus	1/7	OMIM:615777
1301	COL11A1	HP:0000280	Coarse facial features	2/7	OMIM:615777
1301	COL11A1	HP:0001591	Bell-shaped thorax	HP:0040281	ORPHA:2021
1301	COL11A1	HP:0000260	Wide anterior fontanel	-	OMIM:228520
1301	COL11A1	HP:0000260	Wide anterior fontanel	HP:0040281	ORPHA:2021
1301	COL11A1	HP:0000272	Malar flattening	-	OMIM:154780
1301	COL11A1	HP:0000272	Malar flattening	27/28	OMIM:184840
1301	COL11A1	HP:0000272	Malar flattening	-	OMIM:228520
1301	COL11A1	HP:0000272	Malar flattening	-	OMIM:604841
1301	COL11A1	HP:0000272	Malar flattening	1/1	OMIM:156550
1301	COL11A1	HP:0000272	Malar flattening	HP:0040281	ORPHA:560
1301	COL11A1	HP:0006456	Irregular proximal tibial epiphyses	-	OMIM:154780
1301	COL11A1	HP:0007773	Vitreoretinopathy	-	OMIM:154780
1301	COL11A1	HP:0007773	Vitreoretinopathy	HP:0040282	ORPHA:560
1301	COL11A1	HP:0007773	Vitreoretinopathy	-	OMIM:143200
1301	COL11A1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
1301	COL11A1	HP:0006407	Irregular distal femoral epiphysis	-	OMIM:154780
1301	COL11A1	HP:0002812	Coxa vara	-	OMIM:156550
1301	COL11A1	HP:0002829	Arthralgia	20/20	OMIM:184840
1301	COL11A1	HP:0002829	Arthralgia	HP:0040281	ORPHA:560
1301	COL11A1	HP:0002827	Hip dislocation	3/7	OMIM:615777
1301	COL11A1	HP:0002827	Hip dislocation	-	OMIM:156550
1301	COL11A1	HP:0005086	Knee osteoarthritis	-	OMIM:154780
1301	COL11A1	HP:0006375	Dumbbell-shaped femur	1/1	OMIM:156550
1301	COL11A1	HP:0006361	Irregular femoral epiphysis	-	OMIM:154780
1301	COL11A1	HP:0000252	Microcephaly	-	OMIM:615777
1301	COL11A1	HP:0000248	Brachycephaly	HP:0040281	ORPHA:560
1301	COL11A1	HP:0000218	High palate	HP:0040283	ORPHA:560
1301	COL11A1	HP:0000215	Thick upper lip vermilion	-	OMIM:154780
1301	COL11A1	HP:0000215	Thick upper lip vermilion	HP:0040281	ORPHA:560
1301	COL11A1	HP:0002857	Genu valgum	-	OMIM:131300
1301	COL11A1	HP:0002857	Genu valgum	HP:0040282	ORPHA:560
1301	COL11A1	HP:0001537	Umbilical hernia	-	OMIM:156550
1301	COL11A1	HP:0001539	Omphalocele	-	OMIM:228520
1301	COL11A1	HP:0001539	Omphalocele	HP:0040283	ORPHA:2021
1301	COL11A1	HP:0001538	Protuberant abdomen	-	OMIM:228520
1301	COL11A1	HP:0001533	Slender build	-	OMIM:131300
1301	COL11A1	HP:0000201	Pierre-Robin sequence	0/1	OMIM:604841
1301	COL11A1	HP:0000201	Pierre-Robin sequence	4/9	OMIM:154780
1301	COL11A1	HP:0000201	Pierre-Robin sequence	-	OMIM:184840
1301	COL11A1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1301	COL11A1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
1301	COL11A1	HP:0007807	Optic nerve compression	-	OMIM:131300
1301	COL11A1	HP:0012385	Camptodactyly	-	OMIM:228520
1301	COL11A1	HP:0012368	Flat face	7/7	OMIM:615777
1301	COL11A1	HP:0012368	Flat face	HP:0040281	ORPHA:560
1301	COL11A1	HP:0012368	Flat face	-	OMIM:228520
1301	COL11A1	HP:0000377	Abnormal pinna morphology	-	OMIM:228520
1301	COL11A1	HP:0005257	Thoracic hypoplasia	-	OMIM:228520
1301	COL11A1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1301	COL11A1	HP:0000365	Hearing impairment	10/67	OMIM:131300
1301	COL11A1	HP:0000364	Hearing abnormality	HP:0040282	ORPHA:2021
1301	COL11A1	HP:0011003	High myopia	7/7	OMIM:604841
1301	COL11A1	HP:0011003	High myopia	HP:0040282	ORPHA:440354
1301	COL11A1	HP:0000369	Low-set ears	-	OMIM:154780
1301	COL11A1	HP:0000369	Low-set ears	-	OMIM:228520
1301	COL11A1	HP:0000369	Low-set ears	HP:0040282	ORPHA:2021
1301	COL11A1	HP:0000343	Long philtrum	-	OMIM:228520
1301	COL11A1	HP:0000343	Long philtrum	HP:0040281	ORPHA:560
1301	COL11A1	HP:0000343	Long philtrum	-	OMIM:154780
1301	COL11A1	HP:0000343	Long philtrum	1/7	OMIM:615777
1301	COL11A1	HP:0011001	Increased bone mineral density	-	OMIM:131300
1301	COL11A1	HP:0000347	Micrognathia	HP:0040281	ORPHA:440354
1301	COL11A1	HP:0000347	Micrognathia	HP:0040281	ORPHA:560
1301	COL11A1	HP:0000347	Micrognathia	-	OMIM:154780
1301	COL11A1	HP:0000347	Micrognathia	0/1	OMIM:604841
1301	COL11A1	HP:0002982	Tibial bowing	1/1	OMIM:156550
1301	COL11A1	HP:0002983	Micromelia	HP:0040283	ORPHA:2021
1301	COL11A1	HP:0002983	Micromelia	HP:0040281	ORPHA:440354
1301	COL11A1	HP:0002980	Femoral bowing	HP:0040282	ORPHA:440354
1301	COL11A1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:560
1301	COL11A1	HP:0000316	Hypertelorism	-	OMIM:154780
1301	COL11A1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2021
1301	COL11A1	HP:0000311	Round face	2/7	OMIM:615777
1301	COL11A1	HP:0000311	Round face	-	OMIM:156550
1301	COL11A1	HP:0000311	Round face	HP:0040281	ORPHA:2021
1301	COL11A1	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:560
1301	COL11A1	HP:0002986	Radial bowing	-	OMIM:154780
1301	COL11A1	HP:0001655	Patent foramen ovale	-	OMIM:228520
1301	COL11A1	HP:0001622	Premature birth	HP:0040282	ORPHA:440354
1301	COL11A1	HP:0002970	Genu varum	-	OMIM:615777
1301	COL11A1	HP:0002970	Genu varum	1/1	OMIM:156550
1301	COL11A1	HP:0000303	Mandibular prognathia	-	OMIM:131300
1301	COL11A1	HP:0007957	Corneal opacity	HP:0040281	ORPHA:90654
1301	COL11A1	HP:0007964	Degenerative vitreoretinopathy	1/1	OMIM:604841
1301	COL11A1	HP:0007968	Remnants of the hyaloid vascular system	1/1	OMIM:604841
1301	COL11A1	HP:0007973	Retinal dysplasia	1/1	OMIM:604841
1301	COL11A1	HP:0006645	Thin clavicles	-	OMIM:228520
1301	COL11A1	HP:0000407	Sensorineural hearing impairment	-	OMIM:618533
1301	COL11A1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:90654
1301	COL11A1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:440354
1301	COL11A1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:560
1301	COL11A1	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:154780
1301	COL11A1	HP:0000407	Sensorineural hearing impairment	16/28	OMIM:184840
1301	COL11A1	HP:0000407	Sensorineural hearing impairment	7/8	OMIM:604841
1301	COL11A1	HP:0000403	Recurrent otitis media	4/9	OMIM:154780
1301	COL11A1	HP:0000403	Recurrent otitis media	-	OMIM:156550
1301	COL11A1	HP:0000405	Conductive hearing impairment	-	OMIM:156550
1301	COL11A1	HP:0005280	Depressed nasal bridge	27/28	OMIM:184840
1301	COL11A1	HP:0005280	Depressed nasal bridge	-	OMIM:228520
1301	COL11A1	HP:0005280	Depressed nasal bridge	1/2	OMIM:604841
1301	COL11A1	HP:0005280	Depressed nasal bridge	-	OMIM:156550
1301	COL11A1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:560
1301	COL11A1	HP:0005280	Depressed nasal bridge	9/9	OMIM:154780
1301	COL11A1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:2021
1301	COL11A1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1301	COL11A1	HP:0000486	Strabismus	HP:0040283	ORPHA:560
1301	COL11A1	HP:0000485	Megalocornea	-	OMIM:228520
1301	COL11A1	HP:0000478	Abnormality of the eye	0/3	OMIM:184840
1301	COL11A1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:2021
1301	COL11A1	HP:0000488	Retinopathy	HP:0040282	ORPHA:90654
1301	COL11A1	HP:0000463	Anteverted nares	27/28	OMIM:184840
1301	COL11A1	HP:0000463	Anteverted nares	-	OMIM:228520
1301	COL11A1	HP:0000463	Anteverted nares	1/2	OMIM:604841
1301	COL11A1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:560
1301	COL11A1	HP:0000463	Anteverted nares	-	OMIM:154780
1301	COL11A1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2021
1301	COL11A1	HP:0001789	Hydrops fetalis	-	OMIM:228520
1301	COL11A1	HP:0000470	Short neck	-	OMIM:228520
1301	COL11A1	HP:0000470	Short neck	-	OMIM:156550
1301	COL11A1	HP:0000470	Short neck	HP:0040281	ORPHA:2021
1301	COL11A1	HP:0000470	Short neck	1/7	OMIM:615777
1301	COL11A1	HP:0001773	Short foot	-	OMIM:228520
1301	COL11A1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1301	COL11A1	HP:0001763	Pes planus	1/7	OMIM:615777
1301	COL11A1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:560
1301	COL11A1	HP:0025707	Hypoplastic fetal nasal bone	-	OMIM:154780
1301	COL11A1	HP:0005476	Widely patent sagittal suture	-	OMIM:228520
1301	COL11A1	HP:0005462	Calcification of falx cerebri	-	OMIM:154780
1301	COL11A1	HP:0005442	Widely patent coronal suture	-	OMIM:228520
1301	COL11A1	HP:0000518	Cataract	HP:0040281	ORPHA:90654
1301	COL11A1	HP:0000518	Cataract	-	OMIM:604841
1301	COL11A1	HP:0000518	Cataract	-	OMIM:156550
1301	COL11A1	HP:0000518	Cataract	HP:0040281	ORPHA:560
1301	COL11A1	HP:0000518	Cataract	-	OMIM:143200
1301	COL11A1	HP:0000518	Cataract	9/9	OMIM:154780
1301	COL11A1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
1301	COL11A1	HP:0001840	Metatarsus adductus	-	OMIM:615777
1301	COL11A1	HP:0000520	Proptosis	2/4	OMIM:131300
1301	COL11A1	HP:0000520	Proptosis	-	OMIM:228520
1301	COL11A1	HP:0000520	Proptosis	HP:0040281	ORPHA:2021
1301	COL11A1	HP:0000520	Proptosis	HP:0040282	ORPHA:440354
1301	COL11A1	HP:0000520	Proptosis	7/7	OMIM:615777
1301	COL11A1	HP:0000520	Proptosis	-	OMIM:156550
1301	COL11A1	HP:0000520	Proptosis	HP:0040282	ORPHA:560
1301	COL11A1	HP:0000505	Visual impairment	HP:0040282	ORPHA:560
1301	COL11A1	HP:0000501	Glaucoma	-	OMIM:154780
1301	COL11A1	HP:0000501	Glaucoma	-	OMIM:604841
1301	COL11A1	HP:0000501	Glaucoma	HP:0040282	ORPHA:560
1301	COL11A1	HP:0000501	Glaucoma	-	OMIM:143200
1301	COL11A1	HP:0001804	Hypoplastic fingernail	-	OMIM:228520
1301	COL11A1	HP:0001804	Hypoplastic fingernail	HP:0040282	ORPHA:2021
1301	COL11A1	HP:0001800	Hypoplastic toenails	-	OMIM:228520
1301	COL11A1	HP:0000575	Scotoma	5/18	OMIM:180100
1301	COL11A1	HP:0000592	Blue sclerae	2/7	OMIM:615777
1301	COL11A1	HP:0000586	Shallow orbits	1/2	OMIM:604841
1301	COL11A1	HP:0000572	Visual loss	-	OMIM:143200
1301	COL11A1	HP:0000565	Esotropia	-	OMIM:154780
1301	COL11A1	HP:0000541	Retinal detachment	17/31	OMIM:604841
1301	COL11A1	HP:0000541	Retinal detachment	-	OMIM:154780
1301	COL11A1	HP:0000541	Retinal detachment	-	OMIM:156550
1301	COL11A1	HP:0000541	Retinal detachment	HP:0040282	ORPHA:560
1301	COL11A1	HP:0000541	Retinal detachment	HP:0040281	ORPHA:90654
1301	COL11A1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1301	COL11A1	HP:0000533	Chorioretinal atrophy	-	OMIM:143200
1301	COL11A1	HP:0012514	Lower limb pain	4/4	OMIM:131300
1301	COL11A1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
1301	COL11A1	HP:0000545	Myopia	HP:0040281	ORPHA:90654
1301	COL11A1	HP:0000545	Myopia	-	OMIM:180100
1301	COL11A1	HP:0000545	Myopia	1/1	OMIM:604841
1301	COL11A1	HP:0000545	Myopia	1/1	OMIM:156550
1301	COL11A1	HP:0000545	Myopia	HP:0040281	ORPHA:560
1301	COL11A1	HP:0000545	Myopia	-	OMIM:143200
1301	COL11A1	HP:0000545	Myopia	9/9	OMIM:154780
1302	COL11A2	HP:0001156	Brachydactyly	HP:0040281	ORPHA:2021
1302	COL11A2	HP:0001156	Brachydactyly	HP:0040282	ORPHA:1427
1302	COL11A2	HP:0001123	Visual field defect	-	OMIM:143200
1302	COL11A2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1302	COL11A2	HP:0001293	Cranial nerve compression	-	OMIM:131300
1302	COL11A2	HP:0001270	Motor delay	-	OMIM:156550
1302	COL11A2	HP:0001288	Gait disturbance	-	OMIM:156550
1302	COL11A2	HP:0001252	Hypotonia	2/7	OMIM:615777
1302	COL11A2	HP:0001249	Intellectual disability	5/7	OMIM:615777
1302	COL11A2	HP:0001263	Global developmental delay	-	OMIM:615777
1302	COL11A2	HP:0002515	Waddling gait	54/102	OMIM:131300
1302	COL11A2	HP:0006095	Wide tufts of distal phalanges	-	OMIM:154780
1302	COL11A2	HP:0001376	Limitation of joint mobility	-	OMIM:156550
1302	COL11A2	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:1427
1302	COL11A2	HP:0001371	Flexion contracture	-	OMIM:215150
1302	COL11A2	HP:0001367	Abnormal joint morphology	HP:0040281	ORPHA:1427
1302	COL11A2	HP:0001382	Joint hypermobility	-	OMIM:615777
1302	COL11A2	HP:0012019	Lens luxation	-	OMIM:154780
1302	COL11A2	HP:0000023	Inguinal hernia	-	OMIM:156550
1302	COL11A2	HP:0002684	Thickened calvaria	-	OMIM:154780
1302	COL11A2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1302	COL11A2	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:2021
1302	COL11A2	HP:0002688	Absent frontal sinuses	-	OMIM:154780
1302	COL11A2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1302	COL11A2	HP:0006237	Prominent interphalangeal joints	-	OMIM:215150
1302	COL11A2	HP:0008839	Hypoplastic pelvis	-	OMIM:156550
1302	COL11A2	HP:0006172	Flattened, squared-off epiphyses of tubular bones	-	OMIM:156550
1302	COL11A2	HP:0002663	Delayed epiphyseal ossification	-	OMIM:156550
1302	COL11A2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1302	COL11A2	HP:0002656	Epiphyseal dysplasia	HP:0040282	ORPHA:1427
1302	COL11A2	HP:0002656	Epiphyseal dysplasia	-	OMIM:184840
1302	COL11A2	HP:0002656	Epiphyseal dysplasia	-	OMIM:215150
1302	COL11A2	HP:0001324	Muscle weakness	40/96	OMIM:131300
1302	COL11A2	HP:0002673	Coxa valga	-	OMIM:154780
1302	COL11A2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1302	COL11A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614524
1302	COL11A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:215150
1302	COL11A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1302	COL11A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:609706
1302	COL11A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:154780
1302	COL11A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614524
1302	COL11A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:156550
1302	COL11A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:143200
1302	COL11A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:601868
1302	COL11A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1302	COL11A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:184840
1302	COL11A2	HP:0002650	Scoliosis	12/14	OMIM:131300
1302	COL11A2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1302	COL11A2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1302	COL11A2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1302	COL11A2	HP:0008905	Rhizomelia	1/1	OMIM:156550
1302	COL11A2	HP:0000179	Thick lower lip vermilion	-	OMIM:154780
1302	COL11A2	HP:0000193	Bifid uvula	4/9	OMIM:154780
1302	COL11A2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1302	COL11A2	HP:0000193	Bifid uvula	HP:0040282	ORPHA:1427
1302	COL11A2	HP:0000160	Narrow mouth	HP:0040282	ORPHA:2021
1302	COL11A2	HP:0000162	Glossoptosis	HP:0040283	ORPHA:1427
1302	COL11A2	HP:0000162	Glossoptosis	HP:0040282	ORPHA:166100
1302	COL11A2	HP:0000175	Cleft palate	-	OMIM:184840
1302	COL11A2	HP:0000175	Cleft palate	1/1	OMIM:156550
1302	COL11A2	HP:0000175	Cleft palate	HP:0040281	ORPHA:166100
1302	COL11A2	HP:0000175	Cleft palate	4/9	OMIM:154780
1302	COL11A2	HP:0000175	Cleft palate	HP:0040282	ORPHA:2021
1302	COL11A2	HP:0000175	Cleft palate	0/3	OMIM:215150
1302	COL11A2	HP:0000175	Cleft palate	2/7	OMIM:615777
1302	COL11A2	HP:0000175	Cleft palate	HP:0040282	ORPHA:1427
1302	COL11A2	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	-	OMIM:215150
1302	COL11A2	HP:0007643	Peripheral tractional retinal detachment	-	OMIM:143200
1302	COL11A2	HP:0002779	Tracheomalacia	-	OMIM:156550
1302	COL11A2	HP:0002758	Osteoarthritis	HP:0040283	ORPHA:1427
1302	COL11A2	HP:0002758	Osteoarthritis	HP:0040282	ORPHA:166100
1302	COL11A2	HP:0004679	Large tarsal bones	-	OMIM:215150
1302	COL11A2	HP:0002007	Frontal bossing	2/2	OMIM:614524
1302	COL11A2	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:2021
1302	COL11A2	HP:0004619	Lumbar kyphoscoliosis	-	OMIM:156550
1302	COL11A2	HP:0011800	Midface retrusion	-	OMIM:184840
1302	COL11A2	HP:0011800	Midface retrusion	-	OMIM:156550
1302	COL11A2	HP:0011800	Midface retrusion	9/9	OMIM:154780
1302	COL11A2	HP:0011800	Midface retrusion	2/2	OMIM:614524
1302	COL11A2	HP:0011800	Midface retrusion	3/3	OMIM:215150
1302	COL11A2	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1427
1302	COL11A2	HP:0002098	Respiratory distress	-	OMIM:156550
1302	COL11A2	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:2021
1302	COL11A2	HP:0003388	Easy fatigability	36/76	OMIM:131300
1302	COL11A2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1302	COL11A2	HP:0100569	Abnormally ossified vertebrae	HP:0040283	ORPHA:1427
1302	COL11A2	HP:0005916	Abnormal metacarpal morphology	HP:0040283	ORPHA:166100
1302	COL11A2	HP:0003468	Abnormal vertebral morphology	HP:0040281	ORPHA:1427
1302	COL11A2	HP:0003417	Coronal cleft vertebrae	HP:0040283	ORPHA:1427
1302	COL11A2	HP:0003417	Coronal cleft vertebrae	-	OMIM:215150
1302	COL11A2	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:156550
1302	COL11A2	HP:0003498	Disproportionate short stature	HP:0040281	ORPHA:1427
1302	COL11A2	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2021
1302	COL11A2	HP:0011867	Abnormal iliac wing morphology	HP:0040282	ORPHA:1427
1302	COL11A2	HP:0010502	Fibular bowing	HP:0040283	ORPHA:1427
1302	COL11A2	HP:0008271	Abnormal cartilage collagen	-	OMIM:156550
1302	COL11A2	HP:0010580	Enlarged epiphyses	-	OMIM:184840
1302	COL11A2	HP:0003577	Congenital onset	2/2	OMIM:614524
1302	COL11A2	HP:0003577	Congenital onset	1/1	OMIM:156550
1302	COL11A2	HP:0003577	Congenital onset	3/3	OMIM:215150
1302	COL11A2	HP:0100777	Exostoses	HP:0040283	ORPHA:166100
1302	COL11A2	HP:0003510	Severe short stature	7/7	OMIM:615777
1302	COL11A2	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:156550
1302	COL11A2	HP:0002315	Headache	-	OMIM:131300
1302	COL11A2	HP:0004976	Knee dislocation	6/7	OMIM:615777
1302	COL11A2	HP:0200003	Splayed epiphyses	-	OMIM:156550
1302	COL11A2	HP:0009826	Limb undergrowth	HP:0040282	ORPHA:1427
1302	COL11A2	HP:0009803	Short phalanx of finger	-	OMIM:215150
1302	COL11A2	HP:0009803	Short phalanx of finger	-	OMIM:615777
1302	COL11A2	HP:0009803	Short phalanx of finger	HP:0040283	ORPHA:1427
1302	COL11A2	HP:0009763	Limb pain	63/92	OMIM:131300
1302	COL11A2	HP:0003621	Juvenile onset	-	OMIM:131300
1302	COL11A2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1302	COL11A2	HP:0004209	Clinodactyly of the 5th finger	2/9	OMIM:154780
1302	COL11A2	HP:0004279	Short palm	-	OMIM:215150
1302	COL11A2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1302	COL11A2	HP:6001056	Out-toeing	-	OMIM:131300
1302	COL11A2	HP:0000651	Diplopia	-	OMIM:131300
1302	COL11A2	HP:0000648	Optic atrophy	-	OMIM:143200
1302	COL11A2	HP:0001956	Truncal obesity	2/7	OMIM:615777
1302	COL11A2	HP:0001903	Anemia	HP:0040283	OMIM:131300
1302	COL11A2	HP:0010049	Short metacarpal	-	OMIM:615777
1302	COL11A2	HP:0010049	Short metacarpal	HP:0040283	ORPHA:1427
1302	COL11A2	HP:0010047	Short 5th metacarpal	3/3	OMIM:215150
1302	COL11A2	HP:0030490	Exudative vitreoretinopathy	HP:0040283	OMIM:143200
1302	COL11A2	HP:0000678	Dental crowding	-	OMIM:615777
1302	COL11A2	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:154780
1302	COL11A2	HP:0011314	Abnormal long bone morphology	HP:0040282	ORPHA:1427
1302	COL11A2	HP:0000670	Carious teeth	-	OMIM:131300
1302	COL11A2	HP:0011304	Broad thumb	2/7	OMIM:615777
1302	COL11A2	HP:0000668	Hypodontia	-	OMIM:615777
1302	COL11A2	HP:0000664	Synophrys	-	OMIM:615777
1302	COL11A2	HP:0004322	Short stature	HP:0040281	ORPHA:2021
1302	COL11A2	HP:0004322	Short stature	-	OMIM:154780
1302	COL11A2	HP:0004322	Short stature	3/3	OMIM:215150
1302	COL11A2	HP:0030663	Optically empty vitreous	-	OMIM:143200
1302	COL11A2	HP:0003088	Premature osteoarthritis	-	OMIM:184840
1302	COL11A2	HP:0003088	Premature osteoarthritis	3/3	OMIM:215150
1302	COL11A2	HP:0004396	Poor appetite	-	OMIM:131300
1302	COL11A2	HP:0003037	Enlarged joints	-	OMIM:215150
1302	COL11A2	HP:0003037	Enlarged joints	-	OMIM:156550
1302	COL11A2	HP:0003037	Enlarged joints	HP:0040283	ORPHA:1427
1302	COL11A2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1302	COL11A2	HP:0003031	Ulnar bowing	-	OMIM:154780
1302	COL11A2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1302	COL11A2	HP:0003015	Flared metaphysis	-	OMIM:215150
1302	COL11A2	HP:0003015	Flared metaphysis	-	OMIM:156550
1302	COL11A2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1302	COL11A2	HP:0003016	Metaphyseal widening	2/2	OMIM:614524
1302	COL11A2	HP:0003026	Short long bone	-	OMIM:215150
1302	COL11A2	HP:0003026	Short long bone	7/7	OMIM:615777
1302	COL11A2	HP:0003026	Short long bone	2/2	OMIM:614524
1302	COL11A2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1302	COL11A2	HP:0003021	Metaphyseal cupping	1/2	OMIM:614524
1302	COL11A2	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:2021
1302	COL11A2	HP:0000767	Pectus excavatum	1/1	OMIM:156550
1302	COL11A2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:166100
1302	COL11A2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1302	COL11A2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1302	COL11A2	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:166100
1302	COL11A2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1302	COL11A2	HP:0000750	Delayed speech and language development	-	OMIM:615777
1302	COL11A2	HP:0011461	Fetal onset	7/7	OMIM:615777
1302	COL11A2	HP:0000774	Narrow chest	HP:0040281	ORPHA:2021
1302	COL11A2	HP:0000774	Narrow chest	2/7	OMIM:615777
1302	COL11A2	HP:0000773	Short ribs	2/2	OMIM:614524
1302	COL11A2	HP:0000773	Short ribs	HP:0040281	ORPHA:2021
1302	COL11A2	HP:0003196	Short nose	9/9	OMIM:154780
1302	COL11A2	HP:0003196	Short nose	2/2	OMIM:614524
1302	COL11A2	HP:0000926	Platyspondyly	1/9	OMIM:154780
1302	COL11A2	HP:0000926	Platyspondyly	-	OMIM:184840
1302	COL11A2	HP:0000926	Platyspondyly	2/2	OMIM:614524
1302	COL11A2	HP:0000926	Platyspondyly	-	OMIM:215150
1302	COL11A2	HP:0000926	Platyspondyly	1/7	OMIM:615777
1302	COL11A2	HP:0000926	Platyspondyly	1/1	OMIM:156550
1302	COL11A2	HP:0000926	Platyspondyly	HP:0040283	ORPHA:1427
1302	COL11A2	HP:0003175	Hypoplastic ischia	2/2	OMIM:614524
1302	COL11A2	HP:0003173	Hypoplastic pubic bone	2/2	OMIM:614524
1302	COL11A2	HP:0003180	Flat acetabular roof	-	OMIM:615777
1302	COL11A2	HP:0004482	Relative macrocephaly	-	OMIM:615777
1302	COL11A2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1302	COL11A2	HP:0000882	Hypoplastic scapulae	HP:0040282	ORPHA:2021
1302	COL11A2	HP:0000887	Cupped ribs	2/2	OMIM:614524
1302	COL11A2	HP:0000885	Broad ribs	HP:0040281	ORPHA:2021
1302	COL11A2	HP:0000823	Delayed puberty	-	OMIM:131300
1302	COL11A2	HP:0040025	Clinodactyly of the 4th finger	2/9	OMIM:154780
1302	COL11A2	HP:0000894	Short clavicles	-	OMIM:615777
1302	COL11A2	HP:0004568	Beaking of vertebral bodies	-	OMIM:215150
1302	COL11A2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1302	COL11A2	HP:0003273	Hip contracture	-	OMIM:156550
1302	COL11A2	HP:0100250	Meningeal calcification	-	OMIM:154780
1302	COL11A2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1302	COL11A2	HP:0000947	Dumbbell-shaped long bone	-	OMIM:156550
1302	COL11A2	HP:0000946	Hypoplastic ilia	-	OMIM:154780
1302	COL11A2	HP:0000946	Hypoplastic ilia	2/2	OMIM:614524
1302	COL11A2	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2021
1302	COL11A2	HP:0000940	Abnormal diaphysis morphology	HP:0040281	ORPHA:2021
1302	COL11A2	HP:0040163	Abnormal pelvis bone morphology	HP:0040281	ORPHA:1427
1302	COL11A2	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:143200
1302	COL11A2	HP:0012283	Small distal femoral epiphysis	-	OMIM:154780
1302	COL11A2	HP:0012284	Small proximal tibial epiphyses	-	OMIM:154780
1302	COL11A2	HP:0000286	Epicanthus	-	OMIM:154780
1302	COL11A2	HP:0000286	Epicanthus	1/7	OMIM:615777
1302	COL11A2	HP:0000280	Coarse facial features	2/7	OMIM:615777
1302	COL11A2	HP:0025573	Mild myopia	HP:0040284	ORPHA:1427
1302	COL11A2	HP:0001591	Bell-shaped thorax	2/2	OMIM:614524
1302	COL11A2	HP:0001591	Bell-shaped thorax	HP:0040281	ORPHA:2021
1302	COL11A2	HP:0000260	Wide anterior fontanel	HP:0040281	ORPHA:2021
1302	COL11A2	HP:0000272	Malar flattening	-	OMIM:154780
1302	COL11A2	HP:0000272	Malar flattening	27/28	OMIM:184840
1302	COL11A2	HP:0000272	Malar flattening	2/2	OMIM:614524
1302	COL11A2	HP:0000272	Malar flattening	-	OMIM:215150
1302	COL11A2	HP:0000272	Malar flattening	1/1	OMIM:156550
1302	COL11A2	HP:0000272	Malar flattening	HP:0040281	ORPHA:166100
1302	COL11A2	HP:0006456	Irregular proximal tibial epiphyses	-	OMIM:154780
1302	COL11A2	HP:0007773	Vitreoretinopathy	-	OMIM:154780
1302	COL11A2	HP:0007773	Vitreoretinopathy	-	OMIM:143200
1302	COL11A2	HP:0006407	Irregular distal femoral epiphysis	-	OMIM:154780
1302	COL11A2	HP:0002812	Coxa vara	-	OMIM:156550
1302	COL11A2	HP:0002829	Arthralgia	20/20	OMIM:184840
1302	COL11A2	HP:0002829	Arthralgia	-	OMIM:215150
1302	COL11A2	HP:0002829	Arthralgia	HP:0040281	ORPHA:166100
1302	COL11A2	HP:0002827	Hip dislocation	3/7	OMIM:615777
1302	COL11A2	HP:0002827	Hip dislocation	-	OMIM:156550
1302	COL11A2	HP:0005086	Knee osteoarthritis	-	OMIM:154780
1302	COL11A2	HP:0006375	Dumbbell-shaped femur	1/1	OMIM:156550
1302	COL11A2	HP:0006375	Dumbbell-shaped femur	HP:0040282	ORPHA:1427
1302	COL11A2	HP:0006361	Irregular femoral epiphysis	-	OMIM:154780
1302	COL11A2	HP:0000252	Microcephaly	-	OMIM:615777
1302	COL11A2	HP:0000215	Thick upper lip vermilion	-	OMIM:154780
1302	COL11A2	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:1427
1302	COL11A2	HP:0002857	Genu valgum	-	OMIM:131300
1302	COL11A2	HP:0001537	Umbilical hernia	-	OMIM:156550
1302	COL11A2	HP:0001539	Omphalocele	HP:0040283	ORPHA:2021
1302	COL11A2	HP:0001538	Protuberant abdomen	2/2	OMIM:614524
1302	COL11A2	HP:0001533	Slender build	-	OMIM:131300
1302	COL11A2	HP:0000201	Pierre-Robin sequence	-	OMIM:215150
1302	COL11A2	HP:0000201	Pierre-Robin sequence	4/9	OMIM:154780
1302	COL11A2	HP:0000201	Pierre-Robin sequence	-	OMIM:184840
1302	COL11A2	HP:0002834	Flared femoral metaphysis	HP:0040283	ORPHA:1427
1302	COL11A2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1302	COL11A2	HP:0007807	Optic nerve compression	-	OMIM:131300
1302	COL11A2	HP:0012368	Flat face	7/7	OMIM:615777
1302	COL11A2	HP:0012368	Flat face	HP:0040282	ORPHA:1427
1302	COL11A2	HP:0005257	Thoracic hypoplasia	2/2	OMIM:614524
1302	COL11A2	HP:0006532	Recurrent pneumonia	-	OMIM:215150
1302	COL11A2	HP:0002938	Lumbar hyperlordosis	3/3	OMIM:215150
1302	COL11A2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1302	COL11A2	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:1427
1302	COL11A2	HP:0000365	Hearing impairment	10/67	OMIM:131300
1302	COL11A2	HP:0000364	Hearing abnormality	HP:0040282	ORPHA:2021
1302	COL11A2	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:1427
1302	COL11A2	HP:0011003	High myopia	-	ORPHA:1427
1302	COL11A2	HP:0000369	Low-set ears	-	OMIM:154780
1302	COL11A2	HP:0000369	Low-set ears	HP:0040282	ORPHA:2021
1302	COL11A2	HP:0000343	Long philtrum	HP:0040281	ORPHA:166100
1302	COL11A2	HP:0000343	Long philtrum	-	OMIM:154780
1302	COL11A2	HP:0000343	Long philtrum	1/7	OMIM:615777
1302	COL11A2	HP:0011001	Increased bone mineral density	-	OMIM:131300
1302	COL11A2	HP:0000336	Prominent supraorbital ridges	3/3	OMIM:215150
1302	COL11A2	HP:0000347	Micrognathia	-	OMIM:154780
1302	COL11A2	HP:0000347	Micrognathia	1/2	OMIM:614524
1302	COL11A2	HP:0000347	Micrognathia	HP:0040282	ORPHA:1427
1302	COL11A2	HP:0000347	Micrognathia	HP:0040282	ORPHA:166100
1302	COL11A2	HP:0000347	Micrognathia	-	OMIM:215150
1302	COL11A2	HP:0002982	Tibial bowing	HP:0040283	ORPHA:1427
1302	COL11A2	HP:0002982	Tibial bowing	1/1	OMIM:156550
1302	COL11A2	HP:0002983	Micromelia	HP:0040283	ORPHA:2021
1302	COL11A2	HP:0000316	Hypertelorism	-	OMIM:154780
1302	COL11A2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2021
1302	COL11A2	HP:0000311	Round face	2/7	OMIM:615777
1302	COL11A2	HP:0000311	Round face	-	OMIM:156550
1302	COL11A2	HP:0000311	Round face	HP:0040281	ORPHA:2021
1302	COL11A2	HP:0002986	Radial bowing	-	OMIM:154780
1302	COL11A2	HP:0002970	Genu varum	-	OMIM:615777
1302	COL11A2	HP:0002970	Genu varum	1/1	OMIM:156550
1302	COL11A2	HP:0000303	Mandibular prognathia	-	OMIM:131300
1302	COL11A2	HP:0007964	Degenerative vitreoretinopathy	-	ORPHA:1427
1302	COL11A2	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:154780
1302	COL11A2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:1427
1302	COL11A2	HP:0000407	Sensorineural hearing impairment	16/28	OMIM:184840
1302	COL11A2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:166100
1302	COL11A2	HP:0000407	Sensorineural hearing impairment	-	OMIM:601868
1302	COL11A2	HP:0000407	Sensorineural hearing impairment	3/3	OMIM:215150
1302	COL11A2	HP:0000407	Sensorineural hearing impairment	-	OMIM:609706
1302	COL11A2	HP:0000403	Recurrent otitis media	4/9	OMIM:154780
1302	COL11A2	HP:0000403	Recurrent otitis media	-	OMIM:156550
1302	COL11A2	HP:0000405	Conductive hearing impairment	-	OMIM:156550
1302	COL11A2	HP:0005280	Depressed nasal bridge	27/28	OMIM:184840
1302	COL11A2	HP:0005280	Depressed nasal bridge	-	OMIM:156550
1302	COL11A2	HP:0005280	Depressed nasal bridge	9/9	OMIM:154780
1302	COL11A2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:2021
1302	COL11A2	HP:0005280	Depressed nasal bridge	3/3	OMIM:215150
1302	COL11A2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1302	COL11A2	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:1427
1302	COL11A2	HP:0000486	Strabismus	HP:0040284	ORPHA:1427
1302	COL11A2	HP:0000478	Abnormality of the eye	0/3	OMIM:184840
1302	COL11A2	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:2021
1302	COL11A2	HP:0000463	Anteverted nares	27/28	OMIM:184840
1302	COL11A2	HP:0000463	Anteverted nares	-	OMIM:154780
1302	COL11A2	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2021
1302	COL11A2	HP:0000463	Anteverted nares	2/2	OMIM:614524
1302	COL11A2	HP:0000463	Anteverted nares	3/3	OMIM:215150
1302	COL11A2	HP:0000463	Anteverted nares	HP:0040281	ORPHA:1427
1302	COL11A2	HP:0000470	Short neck	-	OMIM:156550
1302	COL11A2	HP:0000470	Short neck	HP:0040281	ORPHA:2021
1302	COL11A2	HP:0000470	Short neck	1/7	OMIM:615777
1302	COL11A2	HP:0000470	Short neck	HP:0040283	ORPHA:1427
1302	COL11A2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1302	COL11A2	HP:0001763	Pes planus	1/7	OMIM:615777
1302	COL11A2	HP:0000414	Bulbous nose	-	OMIM:215150
1302	COL11A2	HP:0000410	Mixed hearing impairment	-	OMIM:215150
1302	COL11A2	HP:0025707	Hypoplastic fetal nasal bone	-	OMIM:154780
1302	COL11A2	HP:0005462	Calcification of falx cerebri	-	OMIM:154780
1302	COL11A2	HP:0000518	Cataract	-	OMIM:156550
1302	COL11A2	HP:0000518	Cataract	-	OMIM:143200
1302	COL11A2	HP:0000518	Cataract	9/9	OMIM:154780
1302	COL11A2	HP:0000518	Cataract	-	ORPHA:1427
1302	COL11A2	HP:0001840	Metatarsus adductus	-	OMIM:615777
1302	COL11A2	HP:0001852	Sandal gap	HP:0040283	ORPHA:1427
1302	COL11A2	HP:0000520	Proptosis	2/4	OMIM:131300
1302	COL11A2	HP:0000520	Proptosis	HP:0040281	ORPHA:2021
1302	COL11A2	HP:0000520	Proptosis	3/3	OMIM:215150
1302	COL11A2	HP:0000520	Proptosis	7/7	OMIM:615777
1302	COL11A2	HP:0000520	Proptosis	-	OMIM:156550
1302	COL11A2	HP:0000520	Proptosis	HP:0040283	ORPHA:1427
1302	COL11A2	HP:0000501	Glaucoma	-	OMIM:154780
1302	COL11A2	HP:0000501	Glaucoma	-	OMIM:143200
1302	COL11A2	HP:0001804	Hypoplastic fingernail	HP:0040282	ORPHA:2021
1302	COL11A2	HP:0000592	Blue sclerae	2/7	OMIM:615777
1302	COL11A2	HP:0000572	Visual loss	-	OMIM:143200
1302	COL11A2	HP:0000565	Esotropia	-	OMIM:154780
1302	COL11A2	HP:0000541	Retinal detachment	-	OMIM:154780
1302	COL11A2	HP:0000541	Retinal detachment	-	OMIM:156550
1302	COL11A2	HP:0000541	Retinal detachment	-	ORPHA:1427
1302	COL11A2	HP:0000540	Hypermetropia	HP:0040284	ORPHA:1427
1302	COL11A2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1302	COL11A2	HP:0000533	Chorioretinal atrophy	-	OMIM:143200
1302	COL11A2	HP:0012514	Lower limb pain	4/4	OMIM:131300
1302	COL11A2	HP:0000545	Myopia	1/1	OMIM:156550
1302	COL11A2	HP:0000545	Myopia	-	OMIM:143200
1302	COL11A2	HP:0000545	Myopia	9/9	OMIM:154780
1303	COL12A1	HP:0001182	Tapered finger	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0001181	Adducted thumb	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0001181	Adducted thumb	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:610
1303	COL12A1	HP:0010862	Delayed fine motor development	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0003731	Quadriceps muscle weakness	HP:0040282	ORPHA:610
1303	COL12A1	HP:0003701	Proximal muscle weakness	5/5	OMIM:616471
1303	COL12A1	HP:0003701	Proximal muscle weakness	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0003700	Generalized amyotrophy	HP:0040283	ORPHA:610
1303	COL12A1	HP:0001290	Generalized hypotonia	1/5	OMIM:616471
1303	COL12A1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0001270	Motor delay	HP:0040282	ORPHA:536516
1303	COL12A1	HP:0001270	Motor delay	1/1	OMIM:616471
1303	COL12A1	HP:0001270	Motor delay	3/3	OMIM:616470
1303	COL12A1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:610
1303	COL12A1	HP:0001284	Areflexia	2/3	OMIM:616470
1303	COL12A1	HP:0001284	Areflexia	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0001252	Hypotonia	1/1	OMIM:616471
1303	COL12A1	HP:0001252	Hypotonia	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0001239	Wrist flexion contracture	HP:0040282	ORPHA:610
1303	COL12A1	HP:0001238	Slender finger	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0001220	Interphalangeal joint contracture of finger	HP:0040282	ORPHA:610
1303	COL12A1	HP:0002515	Waddling gait	HP:0040283	ORPHA:610
1303	COL12A1	HP:0003805	Rimmed vacuoles	HP:0040283	ORPHA:610
1303	COL12A1	HP:0001371	Flexion contracture	HP:0040281	ORPHA:75840
1303	COL12A1	HP:0001371	Flexion contracture	1/1	OMIM:616471
1303	COL12A1	HP:0001371	Flexion contracture	3/3	OMIM:616470
1303	COL12A1	HP:0001371	Flexion contracture	HP:0040281	ORPHA:536516
1303	COL12A1	HP:0001371	Flexion contracture	HP:0040281	ORPHA:610
1303	COL12A1	HP:0025335	Delayed ability to stand	HP:0040282	ORPHA:536516
1303	COL12A1	HP:0001382	Joint hypermobility	3/3	OMIM:616470
1303	COL12A1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:610
1303	COL12A1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:536516
1303	COL12A1	HP:0006149	Increased laxity of fingers	HP:0040281	ORPHA:75840
1303	COL12A1	HP:0008780	Congenital bilateral hip dislocation	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0001324	Muscle weakness	5/5	OMIM:616471
1303	COL12A1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:610
1303	COL12A1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616470
1303	COL12A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616471
1303	COL12A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616470
1303	COL12A1	HP:0002650	Scoliosis	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0002650	Scoliosis	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0002650	Scoliosis	0/1	OMIM:616471
1303	COL12A1	HP:0002650	Scoliosis	HP:0040283	ORPHA:610
1303	COL12A1	HP:0001319	Neonatal hypotonia	2/3	OMIM:616470
1303	COL12A1	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:75840
1303	COL12A1	HP:0002705	High, narrow palate	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0002791	Hypoventilation	HP:0040283	ORPHA:610
1303	COL12A1	HP:0025403	Stooped posture	1/1	OMIM:616471
1303	COL12A1	HP:0002751	Kyphoscoliosis	1/3	OMIM:616470
1303	COL12A1	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0003327	Axial muscle weakness	HP:0040283	ORPHA:610
1303	COL12A1	HP:0005988	Congenital muscular torticollis	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:610
1303	COL12A1	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0003306	Spinal rigidity	HP:0040281	ORPHA:75840
1303	COL12A1	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:610
1303	COL12A1	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:75840
1303	COL12A1	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:536516
1303	COL12A1	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:610
1303	COL12A1	HP:0003391	Gowers sign	HP:0040283	ORPHA:610
1303	COL12A1	HP:0010499	Patellar subluxation	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0008180	Mildly elevated creatine kinase	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0009473	Joint contracture of the hand	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:75840
1303	COL12A1	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:610
1303	COL12A1	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:610
1303	COL12A1	HP:0010511	Long toe	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0003593	Infantile onset	1/3	OMIM:616470
1303	COL12A1	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0003560	Muscular dystrophy	-	OMIM:616470
1303	COL12A1	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:610
1303	COL12A1	HP:0003557	Increased variability in muscle fiber diameter	HP:0040281	ORPHA:75840
1303	COL12A1	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:616471
1303	COL12A1	HP:0003557	Increased variability in muscle fiber diameter	3/3	OMIM:616470
1303	COL12A1	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:536516
1303	COL12A1	HP:0008366	Foot joint contracture	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0010628	Facial palsy	1/3	OMIM:616470
1303	COL12A1	HP:0001058	Poor wound healing	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0003691	Scapular winging	1/5	OMIM:616471
1303	COL12A1	HP:0003691	Scapular winging	HP:0040283	ORPHA:610
1303	COL12A1	HP:0002359	Frequent falls	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0001073	Cigarette-paper scars	HP:0040283	ORPHA:610
1303	COL12A1	HP:0001075	Atrophic scars	3/5	OMIM:616471
1303	COL12A1	HP:0032152	Keratosis pilaris	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0032152	Keratosis pilaris	HP:0040283	ORPHA:610
1303	COL12A1	HP:0003623	Neonatal onset	2/3	OMIM:616470
1303	COL12A1	HP:0020152	Distal joint hypermobility	1/1	OMIM:616471
1303	COL12A1	HP:0009073	Progressive proximal muscle weakness	HP:0040281	ORPHA:610
1303	COL12A1	HP:0009058	Increased muscle lipid content	HP:0040282	ORPHA:610
1303	COL12A1	HP:0009046	Difficulty running	-	OMIM:616471
1303	COL12A1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:610
1303	COL12A1	HP:0004303	Abnormal muscle fiber morphology	HP:0040281	ORPHA:75840
1303	COL12A1	HP:0003044	Shoulder flexion contracture	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0031936	Delayed ability to walk	-	OMIM:616471
1303	COL12A1	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:536516
1303	COL12A1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0010176	Curved toe phalanx	HP:0040283	ORPHA:610
1303	COL12A1	HP:0009113	Diaphragmatic weakness	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0003198	Myopathy	-	OMIM:616471
1303	COL12A1	HP:0003199	Decreased muscle mass	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0003236	Elevated circulating creatine kinase concentration	4/5	OMIM:616471
1303	COL12A1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:610
1303	COL12A1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:75840
1303	COL12A1	HP:0005879	Congenital finger flexion contractures	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0000980	Pallor	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0000977	Soft skin	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0000974	Hyperextensible skin	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0000962	Hyperkeratosis	HP:0040283	ORPHA:610
1303	COL12A1	HP:0008081	Pes valgus	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0100297	Increased endomysial connective tissue	HP:0040281	ORPHA:75840
1303	COL12A1	HP:0006466	Ankle flexion contracture	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0006466	Ankle flexion contracture	HP:0040282	ORPHA:610
1303	COL12A1	HP:0002827	Hip dislocation	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0002827	Hip dislocation	2/5	OMIM:616471
1303	COL12A1	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:610
1303	COL12A1	HP:0005072	Wrist hypermobility	HP:0040281	ORPHA:75840
1303	COL12A1	HP:0002808	Kyphosis	1/1	OMIM:616471
1303	COL12A1	HP:0002808	Kyphosis	HP:0040281	ORPHA:75840
1303	COL12A1	HP:0002808	Kyphosis	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0002803	Congenital contracture	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0030095	Reduced muscle collagen VI	HP:0040281	ORPHA:610
1303	COL12A1	HP:0006380	Knee flexion contracture	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0000218	High palate	2/3	OMIM:616470
1303	COL12A1	HP:0002877	Nocturnal hypoventilation	1/3	OMIM:616470
1303	COL12A1	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:610
1303	COL12A1	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0000347	Micrognathia	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0000347	Micrognathia	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:610
1303	COL12A1	HP:0030319	Weakness of facial musculature	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0012497	Reduced maximal expiratory pressure	HP:0040283	ORPHA:610
1303	COL12A1	HP:0000473	Torticollis	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0000470	Short neck	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0000467	Neck muscle weakness	HP:0040282	ORPHA:610
1303	COL12A1	HP:0001771	Achilles tendon contracture	HP:0040283	ORPHA:610
1303	COL12A1	HP:0001763	Pes planus	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0000592	Blue sclerae	HP:0040283	ORPHA:536516
1303	COL12A1	HP:0000565	Esotropia	HP:0040282	ORPHA:75840
1303	COL12A1	HP:0000545	Myopia	HP:0040283	ORPHA:536516
1305	COL13A1	HP:0002460	Distal muscle weakness	3/3	OMIM:616720
1305	COL13A1	HP:0002421	Poor head control	1/3	OMIM:616720
1305	COL13A1	HP:0002421	Poor head control	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0003701	Proximal muscle weakness	2/3	OMIM:616720
1305	COL13A1	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:98914
1305	COL13A1	HP:0001290	Generalized hypotonia	1/3	OMIM:616720
1305	COL13A1	HP:0001270	Motor delay	1/3	OMIM:616720
1305	COL13A1	HP:0001270	Motor delay	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0001283	Bulbar palsy	2/3	OMIM:616720
1305	COL13A1	HP:0001283	Bulbar palsy	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0001284	Areflexia	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0001250	Seizure	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0001252	Hypotonia	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0001252	Hypotonia	-	OMIM:616720
1305	COL13A1	HP:0001251	Ataxia	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0001265	Hyporeflexia	HP:0040284	ORPHA:98914
1305	COL13A1	HP:0002515	Waddling gait	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0001374	Congenital hip dislocation	HP:0040284	ORPHA:98914
1305	COL13A1	HP:0001382	Joint hypermobility	HP:0040284	ORPHA:98914
1305	COL13A1	HP:0410011	Abnormality of masticatory muscle	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616720
1305	COL13A1	HP:0002650	Scoliosis	HP:0040283	ORPHA:98913
1305	COL13A1	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0031108	Triceps weakness	HP:0040283	ORPHA:98913
1305	COL13A1	HP:0002783	Recurrent lower respiratory tract infections	3/3	OMIM:616720
1305	COL13A1	HP:0001446	Abnormality of the musculature of the upper limbs	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:98913
1305	COL13A1	HP:0025401	Staring gaze	HP:0040284	ORPHA:98914
1305	COL13A1	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0002020	Gastroesophageal reflux	1/3	OMIM:616720
1305	COL13A1	HP:0002020	Gastroesophageal reflux	HP:0040284	ORPHA:98914
1305	COL13A1	HP:0002033	Poor suck	HP:0040281	ORPHA:98914
1305	COL13A1	HP:0004661	Frontalis muscle weakness	HP:0040281	ORPHA:98914
1305	COL13A1	HP:0003327	Axial muscle weakness	3/3	OMIM:616720
1305	COL13A1	HP:0003325	Limb-girdle muscle weakness	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0002015	Dysphagia	HP:0040281	ORPHA:98914
1305	COL13A1	HP:0003306	Spinal rigidity	2/3	OMIM:616720
1305	COL13A1	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0005943	Respiratory arrest	HP:0040284	ORPHA:98914
1305	COL13A1	HP:0002093	Respiratory insufficiency	2/3	OMIM:616720
1305	COL13A1	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:98913
1305	COL13A1	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0003473	Fatigable weakness	HP:0040281	ORPHA:98914
1305	COL13A1	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0003443	Decreased size of nerve terminals	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0003402	Decreased miniature endplate potentials	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2/2	OMIM:616720
1305	COL13A1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:98913
1305	COL13A1	HP:0010536	Central sleep apnea	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0003577	Congenital onset	3/3	OMIM:616720
1305	COL13A1	HP:0004885	Episodic respiratory distress	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0003546	Exercise intolerance	3/3	OMIM:616720
1305	COL13A1	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0040281	ORPHA:98914
1305	COL13A1	HP:0003557	Increased variability in muscle fiber diameter	1/3	OMIM:616720
1305	COL13A1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0011968	Feeding difficulties	3/3	OMIM:616720
1305	COL13A1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:98914
1305	COL13A1	HP:0010628	Facial palsy	2/3	OMIM:616720
1305	COL13A1	HP:0010628	Facial palsy	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0002392	EEG with polyspike wave complexes	HP:0040284	ORPHA:98914
1305	COL13A1	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0002329	Drowsiness	HP:0040283	ORPHA:98913
1305	COL13A1	HP:0008443	Neuropathic spinal arthropathy	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0020152	Distal joint hypermobility	2/3	OMIM:616720
1305	COL13A1	HP:0007178	Motor polyneuropathy	HP:0040284	ORPHA:98914
1305	COL13A1	HP:0009077	Weakness of long finger extensor muscles	HP:0040283	ORPHA:98913
1305	COL13A1	HP:0000639	Nystagmus	HP:0040284	ORPHA:98914
1305	COL13A1	HP:0000651	Diplopia	HP:0040284	ORPHA:98914
1305	COL13A1	HP:0000651	Diplopia	HP:0040283	ORPHA:98913
1305	COL13A1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0005659	Thoracic kyphoscoliosis	HP:0040283	ORPHA:98913
1305	COL13A1	HP:0000768	Pectus carinatum	3/3	OMIM:616720
1305	COL13A1	HP:0000768	Pectus carinatum	HP:0040284	ORPHA:98914
1305	COL13A1	HP:0011469	Nasal regurgitation	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0012764	Orthopnea	HP:0040283	ORPHA:98913
1305	COL13A1	HP:0012801	Narrow jaw	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0030842	Choking episodes	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0010307	Stridor	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0100285	EMG: impaired neuromuscular transmission	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0000961	Cyanosis	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0000961	Cyanosis	HP:0040283	ORPHA:98913
1305	COL13A1	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0000278	Retrognathia	1/3	OMIM:616720
1305	COL13A1	HP:0000276	Long face	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0001552	Barrel-shaped chest	1/3	OMIM:616720
1305	COL13A1	HP:0002882	Sudden episodic apnea	HP:0040281	ORPHA:98914
1305	COL13A1	HP:0002878	Respiratory failure	HP:0040283	ORPHA:98913
1305	COL13A1	HP:0000218	High palate	3/3	OMIM:616720
1305	COL13A1	HP:0000218	High palate	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0000218	High palate	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:98913
1305	COL13A1	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:98914
1305	COL13A1	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0002870	Obstructive sleep apnea	HP:0040284	ORPHA:98914
1305	COL13A1	HP:0031374	Ankle weakness	HP:0040283	ORPHA:98913
1305	COL13A1	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0030205	Increased jitter at single fiber EMG	2/2	OMIM:616720
1305	COL13A1	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	-	ORPHA:98914
1305	COL13A1	HP:0001618	Dysphonia	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040283	ORPHA:98913
1305	COL13A1	HP:0001612	Weak cry	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:98914
1305	COL13A1	HP:0030199	Fatigable weakness of neck muscles	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0000369	Low-set ears	3/3	OMIM:616720
1305	COL13A1	HP:0000369	Low-set ears	HP:0040284	ORPHA:98914
1305	COL13A1	HP:0000347	Micrognathia	3/3	OMIM:616720
1305	COL13A1	HP:0000308	Microretrognathia	HP:0040284	ORPHA:98914
1305	COL13A1	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:98914
1305	COL13A1	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0000467	Neck muscle weakness	HP:0040281	ORPHA:98914
1305	COL13A1	HP:0001761	Pes cavus	1/3	OMIM:616720
1305	COL13A1	HP:0001761	Pes cavus	HP:0040283	ORPHA:98914
1305	COL13A1	HP:0000508	Ptosis	3/3	OMIM:616720
1305	COL13A1	HP:0000508	Ptosis	HP:0040281	ORPHA:98914
1305	COL13A1	HP:0000508	Ptosis	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:98913
1305	COL13A1	HP:0000565	Esotropia	HP:0040284	ORPHA:98914
1305	COL13A1	HP:0012515	Hip flexor weakness	HP:0040283	ORPHA:98913
1308	COL17A1	HP:0001131	Corneal dystrophy	HP:0040281	ORPHA:293381
1308	COL17A1	HP:0009926	Epiphora	HP:0040283	ORPHA:293381
1308	COL17A1	HP:0009926	Epiphora	-	OMIM:122400
1308	COL17A1	HP:0007412	Macular hyperpigmented dermopathy	1/1	OMIM:619787
1308	COL17A1	HP:0031045	Acral blistering	HP:0040282	ORPHA:251393
1308	COL17A1	HP:0006089	Palmar hyperhidrosis	-	OMIM:226650
1308	COL17A1	HP:0012056	Cutaneous melanoma	-	ORPHA:79406
1308	COL17A1	HP:0000079	Abnormality of the urinary system	-	ORPHA:79406
1308	COL17A1	HP:0007556	Plantar hyperkeratosis	-	OMIM:226650
1308	COL17A1	HP:0007455	Adermatoglyphia	HP:0040282	ORPHA:79406
1308	COL17A1	HP:0002671	Basal cell carcinoma	-	ORPHA:79406
1308	COL17A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:226650
1308	COL17A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619787
1308	COL17A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:122400
1308	COL17A1	HP:0006297	Enamel hypoplasia	HP:0040282	ORPHA:79406
1308	COL17A1	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:79402
1308	COL17A1	HP:0006297	Enamel hypoplasia	3/3	OMIM:226650
1308	COL17A1	HP:0006297	Enamel hypoplasia	HP:0040282	ORPHA:251393
1308	COL17A1	HP:0003341	Lamina lucida cleavage	1/1	OMIM:619787
1308	COL17A1	HP:0100490	Camptodactyly of finger	-	OMIM:226650
1308	COL17A1	HP:0010562	Keloids	-	ORPHA:79406
1308	COL17A1	HP:0003577	Congenital onset	3/3	OMIM:226650
1308	COL17A1	HP:0003577	Congenital onset	2/2	OMIM:619787
1308	COL17A1	HP:0002215	Sparse axillary hair	HP:0040282	ORPHA:251393
1308	COL17A1	HP:0002232	Patchy alopecia	3/3	OMIM:226650
1308	COL17A1	HP:0002231	Sparse body hair	HP:0040281	ORPHA:79402
1308	COL17A1	HP:0002225	Sparse pubic hair	HP:0040282	ORPHA:251393
1308	COL17A1	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:79406
1308	COL17A1	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:79402
1308	COL17A1	HP:0008404	Nail dystrophy	13/13	OMIM:226650
1308	COL17A1	HP:0008404	Nail dystrophy	2/2	OMIM:619787
1308	COL17A1	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:251393
1308	COL17A1	HP:0009722	Dental enamel pits	1/1	OMIM:619787
1308	COL17A1	HP:0009722	Dental enamel pits	HP:0040282	ORPHA:251393
1308	COL17A1	HP:0200097	Oral mucosal blisters	-	OMIM:226650
1308	COL17A1	HP:0200097	Oral mucosal blisters	HP:0040281	ORPHA:79402
1308	COL17A1	HP:0200097	Oral mucosal blisters	HP:0040283	ORPHA:79406
1308	COL17A1	HP:0008391	Dystrophic fingernails	1/1	OMIM:619787
1308	COL17A1	HP:0008391	Dystrophic fingernails	HP:0040283	ORPHA:251393
1308	COL17A1	HP:0001056	Milia	HP:0040281	ORPHA:79402
1308	COL17A1	HP:0001056	Milia	-	ORPHA:79406
1308	COL17A1	HP:0001056	Milia	HP:0040284	ORPHA:251393
1308	COL17A1	HP:0001057	Aplasia cutis congenita	HP:0040281	ORPHA:79402
1308	COL17A1	HP:0001057	Aplasia cutis congenita	HP:0040283	ORPHA:251393
1308	COL17A1	HP:0001030	Fragile skin	HP:0040282	ORPHA:79406
1308	COL17A1	HP:0001030	Fragile skin	HP:0040281	ORPHA:251393
1308	COL17A1	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:79402
1308	COL17A1	HP:0200026	Ocular pain	HP:0040281	ORPHA:293381
1308	COL17A1	HP:0200026	Ocular pain	-	OMIM:122400
1308	COL17A1	HP:0200020	Corneal erosion	-	OMIM:122400
1308	COL17A1	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:293381
1308	COL17A1	HP:0001075	Atrophic scars	-	ORPHA:79406
1308	COL17A1	HP:0001075	Atrophic scars	HP:0040281	ORPHA:79402
1308	COL17A1	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	HP:0040283	ORPHA:79406
1308	COL17A1	HP:0032156	Skin detachment	HP:0040282	ORPHA:251393
1308	COL17A1	HP:0003621	Juvenile onset	-	OMIM:122400
1308	COL17A1	HP:0001965	Abnormal scalp morphology	-	ORPHA:79406
1308	COL17A1	HP:0000613	Photophobia	HP:0040282	ORPHA:293381
1308	COL17A1	HP:0000613	Photophobia	-	OMIM:122400
1308	COL17A1	HP:0000622	Blurred vision	HP:0040282	ORPHA:293381
1308	COL17A1	HP:0001903	Anemia	-	ORPHA:79406
1308	COL17A1	HP:0001903	Anemia	HP:0040282	ORPHA:79402
1308	COL17A1	HP:0031792	Irregular astigmatism	HP:0040282	ORPHA:293381
1308	COL17A1	HP:0011355	Localized skin lesion	HP:0040283	ORPHA:79406
1308	COL17A1	HP:0000670	Carious teeth	HP:0040283	ORPHA:79406
1308	COL17A1	HP:0000670	Carious teeth	3/3	OMIM:226650
1308	COL17A1	HP:0000670	Carious teeth	1/1	OMIM:619787
1308	COL17A1	HP:0000668	Hypodontia	-	OMIM:226650
1308	COL17A1	HP:0004386	Gastrointestinal inflammation	-	ORPHA:79406
1308	COL17A1	HP:0011463	Childhood onset	-	OMIM:122400
1308	COL17A1	HP:0003121	Limb joint contracture	HP:0040284	ORPHA:251393
1308	COL17A1	HP:0004552	Scarring alopecia of scalp	3/3	OMIM:619787
1308	COL17A1	HP:0004552	Scarring alopecia of scalp	HP:0040283	ORPHA:251393
1308	COL17A1	HP:0004552	Scarring alopecia of scalp	HP:0040281	ORPHA:79402
1308	COL17A1	HP:0004529	Atrophic, patchy alopecia	HP:0040282	ORPHA:251393
1308	COL17A1	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:79406
1308	COL17A1	HP:0000987	Atypical scarring of skin	HP:0040284	ORPHA:251393
1308	COL17A1	HP:0000982	Palmoplantar keratoderma	-	ORPHA:79406
1308	COL17A1	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:79402
1308	COL17A1	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:79406
1308	COL17A1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79402
1308	COL17A1	HP:0008066	Abnormal blistering of the skin	3/3	OMIM:226650
1308	COL17A1	HP:0008066	Abnormal blistering of the skin	3/3	OMIM:619787
1308	COL17A1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:251393
1308	COL17A1	HP:0008039	Subepithelial corneal opacities	HP:0040281	ORPHA:293381
1308	COL17A1	HP:0012252	Abnormal respiratory system morphology	-	ORPHA:79406
1308	COL17A1	HP:0002860	Squamous cell carcinoma	-	ORPHA:79406
1308	COL17A1	HP:0001510	Growth delay	-	ORPHA:79406
1308	COL17A1	HP:0001510	Growth delay	HP:0040283	ORPHA:79402
1308	COL17A1	HP:0011073	Abnormality of dental color	HP:0040282	ORPHA:251393
1308	COL17A1	HP:0031464	Genital blistering	-	ORPHA:79406
1308	COL17A1	HP:0004057	Mitten deformity	-	ORPHA:79406
1308	COL17A1	HP:0004057	Mitten deformity	HP:0040284	ORPHA:251393
1308	COL17A1	HP:0000478	Abnormality of the eye	-	ORPHA:79406
1308	COL17A1	HP:0000495	Recurrent corneal erosions	HP:0040281	ORPHA:293381
1308	COL17A1	HP:0001798	Anonychia	HP:0040282	ORPHA:79406
1308	COL17A1	HP:0001798	Anonychia	HP:0040282	ORPHA:79402
1308	COL17A1	HP:0000529	Progressive visual loss	HP:0040281	ORPHA:293381
1308	COL17A1	HP:0000505	Visual impairment	-	OMIM:122400
1308	COL17A1	HP:0001808	Fragile nails	-	OMIM:226650
1308	COL17A1	HP:0001810	Dystrophic toenail	HP:0040283	ORPHA:251393
1308	COL17A1	HP:0000559	Corneal scarring	HP:0040282	ORPHA:293381
1311	COMP	HP:0001156	Brachydactyly	6/6	OMIM:177170
1311	COMP	HP:0001156	Brachydactyly	HP:0040282	ORPHA:750
1311	COMP	HP:0001156	Brachydactyly	-	ORPHA:93308
1311	COMP	HP:0009882	Short distal phalanx of finger	-	OMIM:177170
1311	COMP	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1311	COMP	HP:0003756	Skeletal myopathy	HP:0040283	ORPHA:750
1311	COMP	HP:0001293	Cranial nerve compression	-	OMIM:131300
1311	COMP	HP:0001288	Gait disturbance	HP:0040282	ORPHA:93308
1311	COMP	HP:0001252	Hypotonia	2/7	OMIM:615777
1311	COMP	HP:0001249	Intellectual disability	0/6	OMIM:177170
1311	COMP	HP:0001249	Intellectual disability	5/7	OMIM:615777
1311	COMP	HP:0001263	Global developmental delay	-	OMIM:615777
1311	COMP	HP:0100864	Short femoral neck	HP:0040283	ORPHA:750
1311	COMP	HP:0100864	Short femoral neck	-	OMIM:132400
1311	COMP	HP:0002515	Waddling gait	HP:0040283	ORPHA:93308
1311	COMP	HP:0002515	Waddling gait	54/102	OMIM:131300
1311	COMP	HP:0002515	Waddling gait	-	OMIM:132400
1311	COMP	HP:0002515	Waddling gait	HP:0040282	ORPHA:750
1311	COMP	HP:0002515	Waddling gait	-	OMIM:177170
1311	COMP	HP:0033660	Hand paresthesia	14/14	OMIM:619161
1311	COMP	HP:0006094	Finger joint hypermobility	HP:0040283	ORPHA:93308
1311	COMP	HP:0033673	Positive Phalen test	14/14	OMIM:619161
1311	COMP	HP:0033672	Positive carpal Tinel sign	13/14	OMIM:619161
1311	COMP	HP:0008807	Acetabular dysplasia	HP:0040283	ORPHA:750
1311	COMP	HP:0008800	Limited hip movement	1/1	OMIM:132400
1311	COMP	HP:0001377	Limited elbow extension	HP:0040283	ORPHA:750
1311	COMP	HP:0001377	Limited elbow extension	3/6	OMIM:177170
1311	COMP	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:93308
1311	COMP	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:93308
1311	COMP	HP:0001387	Joint stiffness	-	OMIM:132400
1311	COMP	HP:0001387	Joint stiffness	HP:0040283	ORPHA:93308
1311	COMP	HP:0001387	Joint stiffness	HP:0040283	ORPHA:750
1311	COMP	HP:0001382	Joint hypermobility	-	OMIM:177170
1311	COMP	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:750
1311	COMP	HP:0001382	Joint hypermobility	-	OMIM:615777
1311	COMP	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1311	COMP	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1311	COMP	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:750
1311	COMP	HP:0008873	Disproportionate short-limb short stature	-	OMIM:177170
1311	COMP	HP:0008873	Disproportionate short-limb short stature	-	OMIM:132400
1311	COMP	HP:0008839	Hypoplastic pelvis	HP:0040283	ORPHA:750
1311	COMP	HP:0008843	Hip osteoarthritis	-	OMIM:132400
1311	COMP	HP:0008833	Irregular acetabular roof	HP:0040283	ORPHA:750
1311	COMP	HP:0006149	Increased laxity of fingers	HP:0040282	ORPHA:750
1311	COMP	HP:0002663	Delayed epiphyseal ossification	HP:0040282	ORPHA:750
1311	COMP	HP:0002663	Delayed epiphyseal ossification	-	OMIM:177170
1311	COMP	HP:0002663	Delayed epiphyseal ossification	2/2	OMIM:132400
1311	COMP	HP:0002663	Delayed epiphyseal ossification	HP:0040283	ORPHA:93308
1311	COMP	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1311	COMP	HP:0002656	Epiphyseal dysplasia	1/1	OMIM:132400
1311	COMP	HP:0001324	Muscle weakness	40/96	OMIM:131300
1311	COMP	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1311	COMP	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1311	COMP	HP:0000006	Autosomal dominant inheritance	-	OMIM:177170
1311	COMP	HP:0000006	Autosomal dominant inheritance	-	OMIM:132400
1311	COMP	HP:0000006	Autosomal dominant inheritance	-	OMIM:619161
1311	COMP	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1311	COMP	HP:0002650	Scoliosis	6/6	OMIM:177170
1311	COMP	HP:0002650	Scoliosis	HP:0040283	ORPHA:750
1311	COMP	HP:0002650	Scoliosis	12/14	OMIM:131300
1311	COMP	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1311	COMP	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1311	COMP	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1311	COMP	HP:0012185	Constrictive median neuropathy	14/14	OMIM:619161
1311	COMP	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1311	COMP	HP:0001498	Carpal bone hypoplasia	-	OMIM:177170
1311	COMP	HP:0000175	Cleft palate	2/7	OMIM:615777
1311	COMP	HP:0002761	Generalized joint hypermobility	HP:0040282	ORPHA:750
1311	COMP	HP:0002761	Generalized joint hypermobility	-	OMIM:132400
1311	COMP	HP:0002758	Osteoarthritis	HP:0040282	ORPHA:750
1311	COMP	HP:0002758	Osteoarthritis	11/16	OMIM:177170
1311	COMP	HP:0002758	Osteoarthritis	HP:0040283	ORPHA:93308
1311	COMP	HP:0030973	Postexertional symptom exacerbation	HP:0040282	ORPHA:93308
1311	COMP	HP:0003365	Arthralgia of the hip	HP:0040282	ORPHA:93308
1311	COMP	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:750
1311	COMP	HP:0003311	Hypoplasia of the odontoid process	HP:0040284	ORPHA:750
1311	COMP	HP:0003311	Hypoplasia of the odontoid process	-	OMIM:177170
1311	COMP	HP:0003301	Irregular vertebral endplates	-	OMIM:132400
1311	COMP	HP:0003300	Ovoid vertebral bodies	-	OMIM:132400
1311	COMP	HP:0100531	Wind-swept deformity of the knees	HP:0040282	ORPHA:750
1311	COMP	HP:0003393	Thenar muscle atrophy	13/14	OMIM:619161
1311	COMP	HP:0003388	Easy fatigability	36/76	OMIM:131300
1311	COMP	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1311	COMP	HP:0009487	Ulnar deviation of the hand	-	OMIM:177170
1311	COMP	HP:0003414	Atlantoaxial dislocation	-	OMIM:177170
1311	COMP	HP:0003498	Disproportionate short stature	HP:0040283	ORPHA:93308
1311	COMP	HP:0010585	Small epiphyses	HP:0040283	ORPHA:750
1311	COMP	HP:0010585	Small epiphyses	-	OMIM:177170
1311	COMP	HP:0010585	Small epiphyses	-	OMIM:132400
1311	COMP	HP:0010579	Cone-shaped epiphysis	HP:0040283	ORPHA:750
1311	COMP	HP:0010582	Irregular epiphyses	HP:0040282	ORPHA:750
1311	COMP	HP:0010582	Irregular epiphyses	5/6	OMIM:177170
1311	COMP	HP:0010582	Irregular epiphyses	1/1	OMIM:132400
1311	COMP	HP:0046505	Hand pain	13/14	OMIM:619161
1311	COMP	HP:0010646	Cervical spine instability	HP:0040284	ORPHA:750
1311	COMP	HP:0003510	Severe short stature	7/7	OMIM:615777
1311	COMP	HP:0003510	Severe short stature	-	OMIM:132400
1311	COMP	HP:0003502	Mild short stature	1/1	OMIM:132400
1311	COMP	HP:0002341	Cervical cord compression	-	OMIM:177170
1311	COMP	HP:0002315	Headache	-	OMIM:131300
1311	COMP	HP:0004976	Knee dislocation	6/7	OMIM:615777
1311	COMP	HP:0009826	Limb undergrowth	HP:0040282	ORPHA:750
1311	COMP	HP:0009803	Short phalanx of finger	HP:0040282	ORPHA:750
1311	COMP	HP:0009803	Short phalanx of finger	-	OMIM:177170
1311	COMP	HP:0009803	Short phalanx of finger	-	OMIM:615777
1311	COMP	HP:0009803	Short phalanx of finger	-	OMIM:132400
1311	COMP	HP:0009763	Limb pain	63/92	OMIM:131300
1311	COMP	HP:0003621	Juvenile onset	-	OMIM:131300
1311	COMP	HP:0020152	Distal joint hypermobility	HP:0040282	ORPHA:750
1311	COMP	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1311	COMP	HP:0004236	Irregular carpal bones	HP:0040283	ORPHA:750
1311	COMP	HP:0004236	Irregular carpal bones	-	OMIM:177170
1311	COMP	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1311	COMP	HP:6001056	Out-toeing	-	OMIM:131300
1311	COMP	HP:0000651	Diplopia	-	OMIM:131300
1311	COMP	HP:0100168	Fragmented epiphyses	-	OMIM:177170
1311	COMP	HP:0001956	Truncal obesity	2/7	OMIM:615777
1311	COMP	HP:0001903	Anemia	HP:0040283	OMIM:131300
1311	COMP	HP:0010049	Short metacarpal	-	OMIM:615777
1311	COMP	HP:0010049	Short metacarpal	-	OMIM:132400
1311	COMP	HP:0010049	Short metacarpal	-	OMIM:177170
1311	COMP	HP:0000678	Dental crowding	-	OMIM:615777
1311	COMP	HP:0000670	Carious teeth	-	OMIM:131300
1311	COMP	HP:0011304	Broad thumb	2/7	OMIM:615777
1311	COMP	HP:0000668	Hypodontia	-	OMIM:615777
1311	COMP	HP:0000664	Synophrys	-	OMIM:615777
1311	COMP	HP:0004396	Poor appetite	-	OMIM:131300
1311	COMP	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1311	COMP	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1311	COMP	HP:0003049	Ulnar deviation of the wrist	-	OMIM:177170
1311	COMP	HP:0003015	Flared metaphysis	HP:0040283	ORPHA:750
1311	COMP	HP:0003016	Metaphyseal widening	HP:0040282	ORPHA:750
1311	COMP	HP:0003016	Metaphyseal widening	-	OMIM:177170
1311	COMP	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1311	COMP	HP:0003026	Short long bone	HP:0040282	ORPHA:93308
1311	COMP	HP:0003026	Short long bone	7/7	OMIM:615777
1311	COMP	HP:0003026	Short long bone	HP:0040282	ORPHA:750
1311	COMP	HP:0003026	Short long bone	-	OMIM:177170
1311	COMP	HP:0003025	Metaphyseal irregularity	HP:0040282	ORPHA:750
1311	COMP	HP:0003025	Metaphyseal irregularity	5/6	OMIM:177170
1311	COMP	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1311	COMP	HP:0009107	Abnormal ossification involving the femoral head and neck	HP:0040283	ORPHA:750
1311	COMP	HP:0011405	Childhood onset short-limb short stature	-	OMIM:177170
1311	COMP	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1311	COMP	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1311	COMP	HP:0000763	Sensory neuropathy	-	OMIM:177170
1311	COMP	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1311	COMP	HP:0000750	Delayed speech and language development	-	OMIM:615777
1311	COMP	HP:0011461	Fetal onset	7/7	OMIM:615777
1311	COMP	HP:0000774	Narrow chest	2/7	OMIM:615777
1311	COMP	HP:0005743	Avascular necrosis of the capital femoral epiphysis	-	OMIM:132400
1311	COMP	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040284	ORPHA:93308
1311	COMP	HP:0005720	Shortening of all metacarpals	HP:0040282	ORPHA:750
1311	COMP	HP:0000926	Platyspondyly	5/6	OMIM:177170
1311	COMP	HP:0000926	Platyspondyly	1/7	OMIM:615777
1311	COMP	HP:0000926	Platyspondyly	HP:0040282	ORPHA:750
1311	COMP	HP:0003170	Abnormal acetabulum morphology	HP:0040283	ORPHA:93308
1311	COMP	HP:0003180	Flat acetabular roof	HP:0040283	ORPHA:750
1311	COMP	HP:0003180	Flat acetabular roof	-	OMIM:615777
1311	COMP	HP:0004482	Relative macrocephaly	-	OMIM:615777
1311	COMP	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1311	COMP	HP:0003093	Limited hip extension	HP:0040283	ORPHA:750
1311	COMP	HP:0003093	Limited hip extension	-	OMIM:177170
1311	COMP	HP:0003090	Hypoplasia of the capital femoral epiphysis	HP:0040283	ORPHA:750
1311	COMP	HP:0000823	Delayed puberty	-	OMIM:131300
1311	COMP	HP:0010236	Small epiphyses of the phalanges of the hand	-	OMIM:177170
1311	COMP	HP:0000894	Short clavicles	-	OMIM:615777
1311	COMP	HP:0004568	Beaking of vertebral bodies	HP:0040283	ORPHA:750
1311	COMP	HP:0004568	Beaking of vertebral bodies	5/6	OMIM:177170
1311	COMP	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1311	COMP	HP:0045086	Knee joint hypermobility	HP:0040282	ORPHA:750
1311	COMP	HP:0045086	Knee joint hypermobility	HP:0040283	ORPHA:93308
1311	COMP	HP:0030839	Knee pain	HP:0040282	ORPHA:93308
1311	COMP	HP:0030840	Ankle pain	HP:0040283	ORPHA:93308
1311	COMP	HP:0030840	Ankle pain	1/1	OMIM:132400
1311	COMP	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1311	COMP	HP:0000286	Epicanthus	1/7	OMIM:615777
1311	COMP	HP:0000280	Coarse facial features	2/7	OMIM:615777
1311	COMP	HP:0006460	Increased laxity of ankles	HP:0040283	ORPHA:750
1311	COMP	HP:0006467	Limited shoulder movement	2/6	OMIM:177170
1311	COMP	HP:0006429	Broad femoral neck	-	OMIM:132400
1311	COMP	HP:0002816	Genu recurvatum	-	OMIM:177170
1311	COMP	HP:0002812	Coxa vara	HP:0040284	ORPHA:93308
1311	COMP	HP:0002829	Arthralgia	-	OMIM:177170
1311	COMP	HP:0002829	Arthralgia	HP:0040282	ORPHA:750
1311	COMP	HP:0002827	Hip dislocation	3/7	OMIM:615777
1311	COMP	HP:0002808	Kyphosis	-	OMIM:177170
1311	COMP	HP:0005063	Fragmented, irregular epiphyses	-	OMIM:177170
1311	COMP	HP:0000252	Microcephaly	-	OMIM:615777
1311	COMP	HP:0002857	Genu valgum	-	OMIM:131300
1311	COMP	HP:0002857	Genu valgum	-	OMIM:132400
1311	COMP	HP:0002857	Genu valgum	-	OMIM:177170
1311	COMP	HP:0002857	Genu valgum	HP:0040284	ORPHA:93308
1311	COMP	HP:0002857	Genu valgum	HP:0040283	ORPHA:750
1311	COMP	HP:0001533	Slender build	-	OMIM:131300
1311	COMP	HP:0002834	Flared femoral metaphysis	-	OMIM:177170
1311	COMP	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1311	COMP	HP:0007807	Optic nerve compression	-	OMIM:131300
1311	COMP	HP:0012368	Flat face	7/7	OMIM:615777
1311	COMP	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1311	COMP	HP:0002938	Lumbar hyperlordosis	HP:0040282	ORPHA:750
1311	COMP	HP:0002938	Lumbar hyperlordosis	-	OMIM:177170
1311	COMP	HP:0006499	Abnormal femoral epiphysis morphology	HP:0040283	ORPHA:750
1311	COMP	HP:0000365	Hearing impairment	10/67	OMIM:131300
1311	COMP	HP:0000343	Long philtrum	1/7	OMIM:615777
1311	COMP	HP:0011001	Increased bone mineral density	-	OMIM:131300
1311	COMP	HP:0012307	Spatulate ribs	-	OMIM:177170
1311	COMP	HP:0000311	Round face	2/7	OMIM:615777
1311	COMP	HP:0002970	Genu varum	HP:0040283	ORPHA:750
1311	COMP	HP:0002970	Genu varum	5/6	OMIM:177170
1311	COMP	HP:0002970	Genu varum	HP:0040284	ORPHA:93308
1311	COMP	HP:0002970	Genu varum	-	OMIM:615777
1311	COMP	HP:0000303	Mandibular prognathia	-	OMIM:131300
1311	COMP	HP:0004042	Ulnar metaphyseal irregularity	-	OMIM:177170
1311	COMP	HP:0004019	Radial metaphyseal irregularity	-	OMIM:177170
1311	COMP	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1311	COMP	HP:0000470	Short neck	1/7	OMIM:615777
1311	COMP	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1311	COMP	HP:0001763	Pes planus	1/1	OMIM:132400
1311	COMP	HP:0001763	Pes planus	1/7	OMIM:615777
1311	COMP	HP:0001840	Metatarsus adductus	-	OMIM:615777
1311	COMP	HP:0000520	Proptosis	2/4	OMIM:131300
1311	COMP	HP:0000520	Proptosis	7/7	OMIM:615777
1311	COMP	HP:0000592	Blue sclerae	2/7	OMIM:615777
1311	COMP	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1311	COMP	HP:0012514	Lower limb pain	4/4	OMIM:131300
1312	COMT	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:567
1312	COMT	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:567
1312	COMT	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:567
1312	COMT	HP:0002435	Meningocele	HP:0040282	ORPHA:567
1312	COMT	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:567
1312	COMT	HP:0002414	Spina bifida	HP:0040283	ORPHA:567
1312	COMT	HP:0001281	Tetany	HP:0040282	ORPHA:567
1312	COMT	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:567
1312	COMT	HP:0001250	Seizure	HP:0040283	ORPHA:567
1312	COMT	HP:0001252	Hypotonia	HP:0040281	ORPHA:567
1312	COMT	HP:0001249	Intellectual disability	HP:0040283	ORPHA:567
1312	COMT	HP:0001263	Global developmental delay	HP:0040282	ORPHA:567
1312	COMT	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:567
1312	COMT	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:567
1312	COMT	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:567
1312	COMT	HP:0001369	Arthritis	HP:0040283	ORPHA:567
1312	COMT	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:567
1312	COMT	HP:0000047	Hypospadias	HP:0040283	ORPHA:567
1312	COMT	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:567
1312	COMT	HP:0002691	Platybasia	HP:0040281	ORPHA:567
1312	COMT	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:567
1312	COMT	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:567
1312	COMT	HP:0001328	Specific learning disability	HP:0040282	ORPHA:567
1312	COMT	HP:0002650	Scoliosis	HP:0040282	ORPHA:567
1312	COMT	HP:0002619	Varicose veins	HP:0040283	ORPHA:567
1312	COMT	HP:0001300	Parkinsonism	HP:0040283	ORPHA:567
1312	COMT	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:567
1312	COMT	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:567
1312	COMT	HP:0000160	Narrow mouth	HP:0040283	ORPHA:567
1312	COMT	HP:0000175	Cleft palate	HP:0040281	ORPHA:567
1312	COMT	HP:0000113	Polycystic kidney dysplasia	HP:0040283	ORPHA:567
1312	COMT	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:567
1312	COMT	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:567
1312	COMT	HP:0002023	Anal atresia	HP:0040283	ORPHA:567
1312	COMT	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:567
1312	COMT	HP:0002019	Constipation	HP:0040282	ORPHA:567
1312	COMT	HP:0003326	Myalgia	HP:0040282	ORPHA:567
1312	COMT	HP:0002099	Asthma	HP:0040283	ORPHA:567
1312	COMT	HP:0002139	Arrhinencephaly	HP:0040283	ORPHA:567
1312	COMT	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:567
1312	COMT	HP:0011840	Abnormality of T cell physiology	HP:0040282	ORPHA:567
1312	COMT	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:567
1312	COMT	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:567
1312	COMT	HP:0100765	Abnormality of the tonsils	HP:0040282	ORPHA:567
1312	COMT	HP:0100735	Hypertensive crisis	HP:0040283	ORPHA:567
1312	COMT	HP:0100750	Atelectasis	HP:0040283	ORPHA:567
1312	COMT	HP:0100753	Schizophrenia	HP:0040283	ORPHA:567
1312	COMT	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:567
1312	COMT	HP:0001051	Seborrheic dermatitis	HP:0040282	ORPHA:567
1312	COMT	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:567
1312	COMT	HP:0002381	Aphasia	HP:0040281	ORPHA:567
1312	COMT	HP:0001061	Acne	HP:0040282	ORPHA:567
1312	COMT	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:567
1312	COMT	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:567
1312	COMT	HP:0000648	Optic atrophy	HP:0040283	ORPHA:567
1312	COMT	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:567
1312	COMT	HP:0000600	Abnormality of the pharynx	HP:0040281	ORPHA:567
1312	COMT	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:567
1312	COMT	HP:0011324	Multiple suture craniosynostosis	HP:0040283	ORPHA:567
1312	COMT	HP:0000670	Carious teeth	HP:0040282	ORPHA:567
1312	COMT	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:567
1312	COMT	HP:0004322	Short stature	HP:0040282	ORPHA:567
1312	COMT	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:567
1312	COMT	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:567
1312	COMT	HP:0000765	Abnormal thorax morphology	HP:0040283	ORPHA:567
1312	COMT	HP:0000739	Anxiety	HP:0040282	ORPHA:567
1312	COMT	HP:0000716	Depression	HP:0040283	ORPHA:567
1312	COMT	HP:0000717	Autism	HP:0040283	ORPHA:567
1312	COMT	HP:0000708	Atypical behavior	HP:0040283	ORPHA:567
1312	COMT	HP:0011496	Corneal neovascularization	HP:0040282	ORPHA:567
1312	COMT	HP:0000778	Hypoplasia of the thymus	HP:0040281	ORPHA:567
1312	COMT	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:567
1312	COMT	HP:0000836	Hyperthyroidism	HP:0040283	ORPHA:567
1312	COMT	HP:0000829	Hypoparathyroidism	HP:0040282	ORPHA:567
1312	COMT	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:567
1312	COMT	HP:0011662	Tricuspid atresia	HP:0040283	ORPHA:567
1312	COMT	HP:0000979	Purpura	HP:0040283	ORPHA:567
1312	COMT	HP:0000286	Epicanthus	HP:0040281	ORPHA:567
1312	COMT	HP:0000262	Turricephaly	HP:0040283	ORPHA:567
1312	COMT	HP:0000276	Long face	HP:0040282	ORPHA:567
1312	COMT	HP:0000272	Malar flattening	HP:0040282	ORPHA:567
1312	COMT	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:567
1312	COMT	HP:0000252	Microcephaly	HP:0040283	ORPHA:567
1312	COMT	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:567
1312	COMT	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:567
1312	COMT	HP:0001508	Failure to thrive	HP:0040283	ORPHA:567
1312	COMT	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:567
1312	COMT	HP:0001513	Obesity	HP:0040283	ORPHA:567
1312	COMT	HP:0006510	Chronic pulmonary obstruction	HP:0040283	ORPHA:567
1312	COMT	HP:0000385	Small earlobe	HP:0040282	ORPHA:567
1312	COMT	HP:0000396	Overfolded helix	HP:0040282	ORPHA:567
1312	COMT	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:567
1312	COMT	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:567
1312	COMT	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:567
1312	COMT	HP:0002901	Hypocalcemia	HP:0040282	ORPHA:567
1312	COMT	HP:0000365	Hearing impairment	HP:0040282	ORPHA:567
1312	COMT	HP:0000369	Low-set ears	HP:0040281	ORPHA:567
1312	COMT	HP:0000343	Long philtrum	HP:0040282	ORPHA:567
1312	COMT	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:567
1312	COMT	HP:0000347	Micrognathia	HP:0040283	ORPHA:567
1312	COMT	HP:0012303	Abnormal aortic arch morphology	HP:0040281	ORPHA:567
1312	COMT	HP:0000316	Hypertelorism	HP:0040283	ORPHA:567
1312	COMT	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:567
1312	COMT	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:567
1312	COMT	HP:0001660	Truncus arteriosus	HP:0040281	ORPHA:567
1312	COMT	HP:0000322	Short philtrum	HP:0040283	ORPHA:567
1312	COMT	HP:0002960	Autoimmunity	HP:0040283	ORPHA:567
1312	COMT	HP:0001629	Ventricular septal defect	HP:0040281	ORPHA:567
1312	COMT	HP:0001641	Abnormal pulmonary valve morphology	HP:0040281	ORPHA:567
1312	COMT	HP:0001636	Tetralogy of Fallot	HP:0040281	ORPHA:567
1312	COMT	HP:0001631	Atrial septal defect	HP:0040281	ORPHA:567
1312	COMT	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:567
1312	COMT	HP:0000486	Strabismus	HP:0040283	ORPHA:567
1312	COMT	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:567
1312	COMT	HP:0000492	Abnormal eyelid morphology	HP:0040282	ORPHA:567
1312	COMT	HP:0000470	Short neck	HP:0040282	ORPHA:567
1312	COMT	HP:0000453	Choanal atresia	HP:0040283	ORPHA:567
1312	COMT	HP:0000414	Bulbous nose	HP:0040281	ORPHA:567
1312	COMT	HP:0001744	Splenomegaly	HP:0040283	ORPHA:567
1312	COMT	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:567
1312	COMT	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:567
1312	COMT	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:567
1312	COMT	HP:0000518	Cataract	HP:0040283	ORPHA:567
1312	COMT	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:567
1312	COMT	HP:0000506	Telecanthus	HP:0040281	ORPHA:567
1312	COMT	HP:0000508	Ptosis	HP:0040282	ORPHA:567
1312	COMT	HP:0000501	Glaucoma	HP:0040283	ORPHA:567
1312	COMT	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:567
1312	COMT	HP:0000568	Microphthalmia	HP:0040283	ORPHA:567
1312	COMT	HP:0001872	Abnormality of thrombocytes	HP:0040283	ORPHA:567
1312	COMT	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:567
1314	COPA	HP:0008653	Crescentic glomerulonephritis	2/4	OMIM:616414
1314	COPA	HP:0001369	Arthritis	20/21	OMIM:616414
1314	COPA	HP:0000006	Autosomal dominant inheritance	-	OMIM:616414
1314	COPA	HP:0002789	Tachypnea	2/9	OMIM:616414
1314	COPA	HP:0002094	Dyspnea	1/9	OMIM:616414
1314	COPA	HP:0002091	Restrictive ventilatory defect	8/8	OMIM:616414
1314	COPA	HP:0003493	Antinuclear antibody positivity	7/9	OMIM:616414
1314	COPA	HP:0003565	Elevated erythrocyte sedimentation rate	-	OMIM:616414
1314	COPA	HP:0012735	Cough	2/9	OMIM:616414
1314	COPA	HP:0011463	Childhood onset	16/21	OMIM:616414
1314	COPA	HP:0040223	Pulmonary hemorrhage	7/9	OMIM:616414
1314	COPA	HP:0045051	Decreased DLCO	-	OMIM:616414
1314	COPA	HP:0002829	Arthralgia	5/21	OMIM:616414
1314	COPA	HP:0006530	Abnormal pulmonary interstitial morphology	9/9	OMIM:616414
1314	COPA	HP:0032979	Hemosiderin-laden macrophages in bronchoalveolar fluid	1/1	OMIM:616414
1314	COPA	HP:0012574	Mesangial hypercellularity	1/4	OMIM:616414
1314	COPA	HP:0011227	Elevated circulating C-reactive protein concentration	-	OMIM:616414
1315	COPB1	HP:0001182	Tapered finger	2/2	OMIM:619255
1315	COPB1	HP:0010864	Intellectual disability, severe	6/6	OMIM:619255
1315	COPB1	HP:0001257	Spasticity	4/6	OMIM:619255
1315	COPB1	HP:0007359	Focal-onset seizure	1/6	OMIM:619255
1315	COPB1	HP:0002540	Inability to walk	4/6	OMIM:619255
1315	COPB1	HP:0000020	Urinary incontinence	2/6	OMIM:619255
1315	COPB1	HP:0001332	Dystonia	1/6	OMIM:619255
1315	COPB1	HP:0001344	Absent speech	2/6	OMIM:619255
1315	COPB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619255
1315	COPB1	HP:0001319	Neonatal hypotonia	2/2	OMIM:619255
1315	COPB1	HP:0002705	High, narrow palate	2/2	OMIM:619255
1315	COPB1	HP:0002076	Migraine	1/6	OMIM:619255
1315	COPB1	HP:0003593	Infantile onset	6/6	OMIM:619255
1315	COPB1	HP:0002283	Global brain atrophy	1/6	OMIM:619255
1315	COPB1	HP:0001065	Striae distensae	2/6	OMIM:619255
1315	COPB1	HP:0001007	Hirsutism	2/6	OMIM:619255
1315	COPB1	HP:0031936	Delayed ability to walk	6/6	OMIM:619255
1315	COPB1	HP:0000750	Delayed speech and language development	5/6	OMIM:619255
1315	COPB1	HP:0000957	Cafe-au-lait spot	1/6	OMIM:619255
1315	COPB1	HP:0000956	Acanthosis nigricans	2/6	OMIM:619255
1315	COPB1	HP:0002808	Kyphosis	2/6	OMIM:619255
1315	COPB1	HP:0000252	Microcephaly	5/6	OMIM:619255
1315	COPB1	HP:0001513	Obesity	2/6	OMIM:619255
1315	COPB1	HP:0001763	Pes planus	1/6	OMIM:619255
1315	COPB1	HP:0000518	Cataract	6/6	OMIM:619255
1315	COPB1	HP:0000582	Upslanted palpebral fissure	2/2	OMIM:619255
1316	KLF6	HP:0000006	Autosomal dominant inheritance	-	OMIM:176807
1316	KLF6	HP:0012125	Prostate cancer	-	OMIM:176807
1316	KLF6	HP:0012126	Stomach cancer	-	OMIM:613659
1316	KLF6	HP:0410067	Increased level of L-fucose in urine	-	OMIM:613659
1316	KLF6	HP:0001442	Typified by somatic mosaicism	-	OMIM:176807
1316	KLF6	HP:0001442	Typified by somatic mosaicism	-	OMIM:613659
1317	SLC31A1	HP:0002490	Increased CSF lactate	2/2	OMIM:620306
1317	SLC31A1	HP:0034823	Decreased CSF copper concentration	2/2	OMIM:620306
1317	SLC31A1	HP:0001272	Cerebellar atrophy	2/2	OMIM:620306
1317	SLC31A1	HP:0001254	Lethargy	2/2	OMIM:620306
1317	SLC31A1	HP:0001250	Seizure	1/1	OMIM:620306
1317	SLC31A1	HP:0002509	Limb hypertonia	2/2	OMIM:620306
1317	SLC31A1	HP:0001347	Hyperreflexia	2/2	OMIM:620306
1317	SLC31A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620306
1317	SLC31A1	HP:0008936	Axial hypotonia	2/2	OMIM:620306
1317	SLC31A1	HP:0005968	Temperature instability	2/2	OMIM:620306
1317	SLC31A1	HP:0002089	Pulmonary hypoplasia	1/1	OMIM:620306
1317	SLC31A1	HP:0002098	Respiratory distress	1/1	OMIM:620306
1317	SLC31A1	HP:0002059	Cerebral atrophy	2/2	OMIM:620306
1317	SLC31A1	HP:0033144	Abnormal circulating ceruloplasmin concentration	0/2	OMIM:620306
1317	SLC31A1	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:620306
1317	SLC31A1	HP:0002119	Ventriculomegaly	2/2	OMIM:620306
1317	SLC31A1	HP:0002107	Pneumothorax	1/1	OMIM:620306
1317	SLC31A1	HP:0003593	Infantile onset	2/2	OMIM:620306
1317	SLC31A1	HP:0100704	Cerebral visual impairment	2/2	OMIM:620306
1317	SLC31A1	HP:0002280	Enlarged cisterna magna	1/1	OMIM:620306
1317	SLC31A1	HP:0002384	Focal impaired awareness seizure	2/2	OMIM:620306
1317	SLC31A1	HP:0010836	Abnormal circulating copper concentration	0/2	OMIM:620306
1317	SLC31A1	HP:0030674	Antenatal onset	1/1	OMIM:620306
1317	SLC31A1	HP:0000807	Glanular hypospadias	1/1	OMIM:620306
1317	SLC31A1	HP:0005736	Short tibia	1/1	OMIM:620306
1317	SLC31A1	HP:0003097	Short femur	1/1	OMIM:620306
1317	SLC31A1	HP:0005180	Tricuspid regurgitation	1/1	OMIM:620306
1317	SLC31A1	HP:0001640	Cardiomegaly	1/1	OMIM:620306
1317	SLC31A1	HP:0032989	Delayed ability to roll over	2/2	OMIM:620306
1317	SLC31A1	HP:0032988	Persistent head lag	2/2	OMIM:620306
1317	SLC31A1	HP:0000474	Thickened nuchal skin fold	1/1	OMIM:620306
1317	SLC31A1	HP:0001762	Talipes equinovarus	1/1	OMIM:620306
1326	MAP3K8	HP:0000006	Autosomal dominant inheritance	-	OMIM:211980
1326	MAP3K8	HP:0001442	Typified by somatic mosaicism	-	OMIM:211980
1326	MAP3K8	HP:0030078	Lung adenocarcinoma	-	OMIM:211980
1326	MAP3K8	HP:0006519	Alveolar cell carcinoma	-	OMIM:211980
1326	MAP3K8	HP:0030358	Non-small cell lung carcinoma	-	OMIM:211980
1327	COX4I1	HP:0002490	Increased CSF lactate	1/1	OMIM:619060
1327	COX4I1	HP:0002421	Poor head control	1/2	OMIM:619060
1327	COX4I1	HP:0033503	Elevated CSF fumarate concentration	1/1	OMIM:619060
1327	COX4I1	HP:0001290	Generalized hypotonia	2/2	OMIM:619060
1327	COX4I1	HP:0001272	Cerebellar atrophy	2/2	OMIM:619060
1327	COX4I1	HP:0002521	Hypsarrhythmia	1/2	OMIM:619060
1327	COX4I1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619060
1327	COX4I1	HP:0001336	Myoclonus	1/2	OMIM:619060
1327	COX4I1	HP:0002750	Delayed skeletal maturation	1/1	OMIM:619060
1327	COX4I1	HP:0002007	Frontal bossing	1/1	OMIM:619060
1327	COX4I1	HP:0002059	Cerebral atrophy	2/2	OMIM:619060
1327	COX4I1	HP:0002151	Increased circulating lactate concentration	1/2	OMIM:619060
1327	COX4I1	HP:0011917	Short 5th toe	1/2	OMIM:619060
1327	COX4I1	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:619060
1327	COX4I1	HP:0007083	Hyperactive patellar reflex	1/2	OMIM:619060
1327	COX4I1	HP:0002376	Developmental regression	2/2	OMIM:619060
1327	COX4I1	HP:0004325	Decreased body weight	2/2	OMIM:619060
1327	COX4I1	HP:0004322	Short stature	3/3	OMIM:619060
1327	COX4I1	HP:0005643	Short 3rd toe	1/2	OMIM:619060
1327	COX4I1	HP:0009237	Short 5th finger	1/1	OMIM:619060
1327	COX4I1	HP:0003221	Chromosomal breakage induced by crosslinking agents	1/1	OMIM:619060
1327	COX4I1	HP:0008093	Short 4th toe	1/2	OMIM:619060
1327	COX4I1	HP:0001508	Failure to thrive	1/1	OMIM:619060
1327	COX4I1	HP:0011097	Epileptic spasm	2/2	OMIM:619060
1327	COX4I1	HP:0000426	Prominent nasal bridge	1/1	OMIM:619060
1327	COX4I1	HP:0001885	Short 2nd toe	1/2	OMIM:619060
1337	COX6A1	HP:0001284	Areflexia	-	OMIM:616039
1337	COX6A1	HP:0001265	Hyporeflexia	-	OMIM:616039
1337	COX6A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616039
1337	COX6A1	HP:0003376	Steppage gait	-	OMIM:616039
1337	COX6A1	HP:0003383	Onion bulb formation	-	OMIM:616039
1337	COX6A1	HP:0003677	Slowly progressive	-	OMIM:616039
1337	COX6A1	HP:0009830	Peripheral neuropathy	-	OMIM:616039
1337	COX6A1	HP:0009027	Foot dorsiflexor weakness	-	OMIM:616039
1337	COX6A1	HP:0011463	Childhood onset	3/3	OMIM:616039
1337	COX6A1	HP:0002936	Distal sensory impairment	-	OMIM:616039
1337	COX6A1	HP:0001761	Pes cavus	-	OMIM:616039
1339	COX6A2	HP:0001290	Generalized hypotonia	2/2	OMIM:619062
1339	COX6A2	HP:0001324	Muscle weakness	2/2	OMIM:619062
1339	COX6A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619062
1339	COX6A2	HP:0002643	Neonatal respiratory distress	1/2	OMIM:619062
1339	COX6A2	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:619062
1339	COX6A2	HP:0003593	Infantile onset	1/2	OMIM:619062
1339	COX6A2	HP:0003577	Congenital onset	1/2	OMIM:619062
1339	COX6A2	HP:0003542	Increased circulating pyruvate concentration	1/1	OMIM:619062
1339	COX6A2	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:619062
1339	COX6A2	HP:0003688	Cytochrome C oxidase-negative muscle fibers	2/2	OMIM:619062
1339	COX6A2	HP:0012240	Increased intramyocellular lipid droplets	2/2	OMIM:619062
1339	COX6A2	HP:0000218	High palate	2/2	OMIM:619062
1339	COX6A2	HP:0030319	Weakness of facial musculature	2/2	OMIM:619062
1340	COX6B1	HP:0002490	Increased CSF lactate	-	OMIM:220110
1340	COX6B1	HP:0002490	Increased CSF lactate	-	OMIM:619051
1340	COX6B1	HP:0410175	Hyperketonemia	1/1	OMIM:619051
1340	COX6B1	HP:0002415	Leukodystrophy	2/2	OMIM:619051
1340	COX6B1	HP:0001290	Generalized hypotonia	11/11	OMIM:220110
1340	COX6B1	HP:0001290	Generalized hypotonia	1/1	OMIM:619051
1340	COX6B1	HP:0001270	Motor delay	-	OMIM:220110
1340	COX6B1	HP:0001268	Mental deterioration	2/2	OMIM:619051
1340	COX6B1	HP:0001250	Seizure	-	OMIM:220110
1340	COX6B1	HP:0001252	Hypotonia	2/2	OMIM:220110
1340	COX6B1	HP:0001251	Ataxia	2/2	OMIM:220110
1340	COX6B1	HP:0001249	Intellectual disability	-	OMIM:220110
1340	COX6B1	HP:0001263	Global developmental delay	-	OMIM:220110
1340	COX6B1	HP:0003819	Death in childhood	2/2	OMIM:220110
1340	COX6B1	HP:0000093	Proteinuria	-	OMIM:220110
1340	COX6B1	HP:0001348	Brisk reflexes	11/11	OMIM:220110
1340	COX6B1	HP:0001324	Muscle weakness	2/2	OMIM:619051
1340	COX6B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619051
1340	COX6B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:220110
1340	COX6B1	HP:0000124	Renal tubular dysfunction	-	OMIM:220110
1340	COX6B1	HP:0001427	Mitochondrial inheritance	-	OMIM:220110
1340	COX6B1	HP:0001410	Decreased liver function	-	OMIM:220110
1340	COX6B1	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:220110
1340	COX6B1	HP:0003355	Aminoaciduria	-	OMIM:220110
1340	COX6B1	HP:0003348	Hyperalaninemia	1/1	OMIM:619051
1340	COX6B1	HP:0003326	Myalgia	-	OMIM:619051
1340	COX6B1	HP:0002098	Respiratory distress	-	OMIM:220110
1340	COX6B1	HP:0002092	Pulmonary arterial hypertension	1/1	OMIM:619051
1340	COX6B1	HP:0002078	Truncal ataxia	11/11	OMIM:220110
1340	COX6B1	HP:0002078	Truncal ataxia	-	OMIM:619051
1340	COX6B1	HP:0002070	Limb ataxia	-	OMIM:619051
1340	COX6B1	HP:0002151	Increased circulating lactate concentration	-	OMIM:220110
1340	COX6B1	HP:0002151	Increased circulating lactate concentration	3/3	OMIM:619051
1340	COX6B1	HP:0002119	Ventriculomegaly	1/1	OMIM:619051
1340	COX6B1	HP:0003593	Infantile onset	2/2	OMIM:220110
1340	COX6B1	HP:0002240	Hepatomegaly	-	OMIM:220110
1340	COX6B1	HP:0100704	Cerebral visual impairment	1/1	OMIM:619051
1340	COX6B1	HP:0003546	Exercise intolerance	-	OMIM:220110
1340	COX6B1	HP:0011968	Feeding difficulties	1/1	OMIM:619051
1340	COX6B1	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1/1	OMIM:619051
1340	COX6B1	HP:0003688	Cytochrome C oxidase-negative muscle fibers	15/15	OMIM:220110
1340	COX6B1	HP:0002376	Developmental regression	13/13	OMIM:220110
1340	COX6B1	HP:0002352	Leukoencephalopathy	-	OMIM:220110
1340	COX6B1	HP:0000648	Optic atrophy	2/2	OMIM:220110
1340	COX6B1	HP:0001942	Metabolic acidosis	11/11	OMIM:619051
1340	COX6B1	HP:0001903	Anemia	-	OMIM:220110
1340	COX6B1	HP:0001987	Hyperammonemia	1/1	OMIM:619051
1340	COX6B1	HP:0001994	Renal Fanconi syndrome	-	OMIM:220110
1340	COX6B1	HP:0003076	Glycosuria	-	OMIM:220110
1340	COX6B1	HP:0003109	Hyperphosphaturia	-	OMIM:220110
1340	COX6B1	HP:0003128	Lactic acidosis	13/13	OMIM:220110
1340	COX6B1	HP:0003128	Lactic acidosis	1/1	OMIM:619051
1340	COX6B1	HP:0012240	Increased intramyocellular lipid droplets	-	OMIM:220110
1340	COX6B1	HP:0002878	Respiratory failure	2/2	OMIM:220110
1340	COX6B1	HP:0000218	High palate	-	OMIM:220110
1340	COX6B1	HP:0002875	Exertional dyspnea	-	OMIM:220110
1340	COX6B1	HP:0001508	Failure to thrive	2/2	OMIM:220110
1340	COX6B1	HP:0001511	Intrauterine growth retardation	1/1	OMIM:619051
1340	COX6B1	HP:0006565	Increased hepatocellular lipid droplets	-	OMIM:220110
1340	COX6B1	HP:0005180	Tricuspid regurgitation	1/1	OMIM:619051
1340	COX6B1	HP:0001640	Cardiomegaly	1/1	OMIM:619051
1340	COX6B1	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:220110
1340	COX6B1	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:619051
1340	COX6B1	HP:0007965	Undetectable visual evoked potentials	-	OMIM:619051
1340	COX6B1	HP:0030319	Weakness of facial musculature	-	OMIM:220110
1340	COX6B1	HP:0000407	Sensorineural hearing impairment	-	OMIM:220110
1340	COX6B1	HP:0001714	Ventricular hypertrophy	1/1	OMIM:619051
1340	COX6B1	HP:0000508	Ptosis	-	OMIM:220110
1340	COX6B1	HP:0000597	Ophthalmoparesis	2/2	OMIM:220110
1340	COX6B1	HP:0000580	Pigmentary retinopathy	-	OMIM:220110
1340	COX6B1	HP:0000572	Visual loss	2/2	OMIM:619051
1349	COX7B	HP:0009939	Mandibular aplasia	HP:0040282	ORPHA:2556
1349	COX7B	HP:0001274	Agenesis of corpus callosum	1/9	OMIM:309801
1349	COX7B	HP:0001274	Agenesis of corpus callosum	2/4	OMIM:300887
1349	COX7B	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:2556
1349	COX7B	HP:0001250	Seizure	HP:0040283	ORPHA:2556
1349	COX7B	HP:0001250	Seizure	-	OMIM:309801
1349	COX7B	HP:0001249	Intellectual disability	2/4	OMIM:300887
1349	COX7B	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2556
1349	COX7B	HP:0001249	Intellectual disability	2/9	OMIM:309801
1349	COX7B	HP:0001263	Global developmental delay	15/20	OMIM:300887
1349	COX7B	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2556
1349	COX7B	HP:0001263	Global developmental delay	2/9	OMIM:309801
1349	COX7B	HP:0007398	Asymmetric, linear skin defects	4/4	OMIM:300887
1349	COX7B	HP:0007398	Asymmetric, linear skin defects	11/11	OMIM:309801
1349	COX7B	HP:0008665	Clitoral hypertrophy	-	OMIM:309801
1349	COX7B	HP:0008665	Clitoral hypertrophy	HP:0040283	ORPHA:2556
1349	COX7B	HP:0002553	Highly arched eyebrow	HP:0040283	OMIM:300887
1349	COX7B	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000041	Chordee	-	OMIM:309801
1349	COX7B	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000036	Abnormal penis morphology	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000039	Epispadias	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000054	Micropenis	-	OMIM:309801
1349	COX7B	HP:0000047	Hypospadias	-	OMIM:309801
1349	COX7B	HP:0000047	Hypospadias	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:2556
1349	COX7B	HP:0001331	Absent septum pellucidum	-	OMIM:309801
1349	COX7B	HP:0001331	Absent septum pellucidum	HP:0040283	ORPHA:2556
1349	COX7B	HP:0001328	Specific learning disability	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000013	Hypoplasia of the uterus	-	OMIM:309801
1349	COX7B	HP:0002623	Overriding aorta	-	OMIM:309801
1349	COX7B	HP:0000175	Cleft palate	1/8	OMIM:309801
1349	COX7B	HP:0001423	X-linked dominant inheritance	-	OMIM:309801
1349	COX7B	HP:0001423	X-linked dominant inheritance	-	OMIM:300887
1349	COX7B	HP:0002023	Anal atresia	-	OMIM:309801
1349	COX7B	HP:0002034	Abnormal rectum morphology	HP:0040283	ORPHA:2556
1349	COX7B	HP:0011800	Midface retrusion	HP:0040281	ORPHA:2556
1349	COX7B	HP:0002098	Respiratory distress	HP:0040283	ORPHA:2556
1349	COX7B	HP:0002094	Dyspnea	HP:0040283	ORPHA:2556
1349	COX7B	HP:0002092	Pulmonary arterial hypertension	HP:0040283	OMIM:300887
1349	COX7B	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	OMIM:300887
1349	COX7B	HP:0010448	Colonic atresia	1/8	OMIM:309801
1349	COX7B	HP:0011716	Junctional ectopic tachycardia	1/8	OMIM:309801
1349	COX7B	HP:0002133	Status epilepticus	HP:0040283	ORPHA:2556
1349	COX7B	HP:0010529	Echolalia	HP:0040283	ORPHA:2556
1349	COX7B	HP:0003577	Congenital onset	11/11	OMIM:309801
1349	COX7B	HP:0008404	Nail dystrophy	1/4	OMIM:300887
1349	COX7B	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2556
1349	COX7B	HP:0003510	Severe short stature	HP:0040282	ORPHA:2556
1349	COX7B	HP:0001057	Aplasia cutis congenita	4/4	OMIM:300887
1349	COX7B	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:2556
1349	COX7B	HP:0002381	Aphasia	HP:0040283	ORPHA:2556
1349	COX7B	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:2556
1349	COX7B	HP:0010783	Erythema	HP:0040281	ORPHA:2556
1349	COX7B	HP:0002300	Mutism	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000646	Amblyopia	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000647	Sclerocornea	3/11	OMIM:309801
1349	COX7B	HP:0000647	Sclerocornea	HP:0040281	ORPHA:2556
1349	COX7B	HP:0000618	Blindness	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000612	Iris coloboma	-	OMIM:309801
1349	COX7B	HP:0000614	Abnormal nasolacrimal system morphology	HP:0040282	ORPHA:2556
1349	COX7B	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000659	Peters anomaly	1/11	OMIM:309801
1349	COX7B	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:2556
1349	COX7B	HP:0004322	Short stature	2/4	OMIM:300887
1349	COX7B	HP:0004322	Short stature	3/9	OMIM:309801
1349	COX7B	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:2556
1349	COX7B	HP:0004327	Abnormal vitreous humor morphology	HP:0040282	ORPHA:2556
1349	COX7B	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:2556
1349	COX7B	HP:0004378	Abnormality of the anus	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000776	Congenital diaphragmatic hernia	1/4	OMIM:300887
1349	COX7B	HP:0000776	Congenital diaphragmatic hernia	HP:0040281	ORPHA:2556
1349	COX7B	HP:0000776	Congenital diaphragmatic hernia	-	OMIM:309801
1349	COX7B	HP:0003196	Short nose	HP:0040283	OMIM:300887
1349	COX7B	HP:0011531	Vitritis	HP:0040282	ORPHA:2556
1349	COX7B	HP:0012861	Ovotestis	-	OMIM:309801
1349	COX7B	HP:0000954	Single transverse palmar crease	1/8	OMIM:309801
1349	COX7B	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:2556
1349	COX7B	HP:0000960	Sacral dimple	HP:0040283	ORPHA:2556
1349	COX7B	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:2556
1349	COX7B	HP:0011675	Arrhythmia	-	OMIM:309801
1349	COX7B	HP:0011675	Arrhythmia	HP:0040282	ORPHA:2556
1349	COX7B	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:2556
1349	COX7B	HP:0000278	Retrognathia	HP:0040282	ORPHA:2556
1349	COX7B	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:2556
1349	COX7B	HP:0007731	Chorioretinal dysplasia	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000238	Hydrocephalus	-	OMIM:309801
1349	COX7B	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000252	Microcephaly	3/4	OMIM:300887
1349	COX7B	HP:0000252	Microcephaly	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000252	Microcephaly	1/8	OMIM:309801
1349	COX7B	HP:0002878	Respiratory failure	HP:0040283	ORPHA:2556
1349	COX7B	HP:0001545	Anteriorly placed anus	-	OMIM:309801
1349	COX7B	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2556
1349	COX7B	HP:0030048	Colpocephaly	-	OMIM:309801
1349	COX7B	HP:0001510	Growth delay	HP:0040283	ORPHA:2556
1349	COX7B	HP:0011027	Abnormal fallopian tube morphology	HP:0040283	ORPHA:2556
1349	COX7B	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:2556
1349	COX7B	HP:0005152	Histiocytoid cardiomyopathy	-	OMIM:309801
1349	COX7B	HP:0000363	Abnormal earlobe morphology	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000365	Hearing impairment	1/8	OMIM:309801
1349	COX7B	HP:0000358	Posteriorly rotated ears	HP:0040283	OMIM:300887
1349	COX7B	HP:0011003	High myopia	1/11	OMIM:309801
1349	COX7B	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:2556
1349	COX7B	HP:0000343	Long philtrum	HP:0040283	OMIM:300887
1349	COX7B	HP:0000348	High forehead	HP:0040283	OMIM:300887
1349	COX7B	HP:0000347	Micrognathia	HP:0040282	ORPHA:2556
1349	COX7B	HP:0000316	Hypertelorism	HP:0040282	OMIM:300887
1349	COX7B	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:2556
1349	COX7B	HP:0000331	Short chin	HP:0040282	OMIM:300887
1349	COX7B	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:2556
1349	COX7B	HP:0001629	Ventricular septal defect	-	OMIM:309801
1349	COX7B	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:2556
1349	COX7B	HP:0001636	Tetralogy of Fallot	HP:0040283	OMIM:300887
1349	COX7B	HP:0001631	Atrial septal defect	-	OMIM:309801
1349	COX7B	HP:0001631	Atrial septal defect	HP:0040283	OMIM:300887
1349	COX7B	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:2556
1349	COX7B	HP:0007957	Corneal opacity	HP:0040281	ORPHA:2556
1349	COX7B	HP:0006610	Wide intermamillary distance	HP:0040283	OMIM:300887
1349	COX7B	HP:0000499	Abnormal eyelash morphology	HP:0040282	ORPHA:2556
1349	COX7B	HP:0007973	Retinal dysplasia	HP:0040283	ORPHA:2556
1349	COX7B	HP:0001704	Tricuspid valve prolapse	HP:0040283	ORPHA:2556
1349	COX7B	HP:0001714	Ventricular hypertrophy	HP:0040283	OMIM:300887
1349	COX7B	HP:0000492	Abnormal eyelid morphology	HP:0040282	ORPHA:2556
1349	COX7B	HP:0012448	Delayed myelination	HP:0040283	OMIM:300887
1349	COX7B	HP:0000445	Wide nose	HP:0040282	ORPHA:2556
1349	COX7B	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:2556
1349	COX7B	HP:0000518	Cataract	1/11	OMIM:309801
1349	COX7B	HP:0000528	Anophthalmia	HP:0040281	ORPHA:2556
1349	COX7B	HP:0001852	Sandal gap	HP:0040283	OMIM:300887
1349	COX7B	HP:0000505	Visual impairment	HP:0040283	OMIM:300887
1349	COX7B	HP:0000501	Glaucoma	HP:0040283	ORPHA:2556
1349	COX7B	HP:0011265	Cleft earlobe	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000598	Abnormality of the ear	HP:0040282	ORPHA:2556
1349	COX7B	HP:0000580	Pigmentary retinopathy	-	OMIM:309801
1349	COX7B	HP:0000556	Retinal dystrophy	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000572	Visual loss	HP:0040283	ORPHA:2556
1349	COX7B	HP:0000568	Microphthalmia	10/11	OMIM:309801
1349	COX7B	HP:0000568	Microphthalmia	0/4	OMIM:300887
1349	COX7B	HP:0000568	Microphthalmia	HP:0040281	ORPHA:2556
1349	COX7B	HP:0000543	Optic disc pallor	1/4	OMIM:300887
1349	COX7B	HP:0000545	Myopia	HP:0040283	OMIM:300887
1351	COX8A	HP:0002490	Increased CSF lactate	1/1	OMIM:619059
1351	COX8A	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1/1	OMIM:619059
1351	COX8A	HP:0100806	Sepsis	1/1	OMIM:619059
1351	COX8A	HP:0001265	Hyporeflexia	1/1	OMIM:619059
1351	COX8A	HP:0001263	Global developmental delay	1/1	OMIM:619059
1351	COX8A	HP:0001257	Spasticity	1/1	OMIM:619059
1351	COX8A	HP:0000007	Autosomal recessive inheritance	-	OMIM:619059
1351	COX8A	HP:0002650	Scoliosis	1/1	OMIM:619059
1351	COX8A	HP:0003348	Hyperalaninemia	1/1	OMIM:619059
1351	COX8A	HP:0002092	Pulmonary arterial hypertension	1/1	OMIM:619059
1351	COX8A	HP:0002154	Hyperglycinemia	1/1	OMIM:619059
1351	COX8A	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:619059
1351	COX8A	HP:0002119	Ventriculomegaly	1/1	OMIM:619059
1351	COX8A	HP:0010819	Atonic seizure	1/1	OMIM:619059
1351	COX8A	HP:0004322	Short stature	1/1	OMIM:619059
1351	COX8A	HP:0011470	Nasogastric tube feeding in infancy	1/1	OMIM:619059
1351	COX8A	HP:0011421	Death in adolescence	1/1	OMIM:619059
1351	COX8A	HP:0003128	Lactic acidosis	1/1	OMIM:619059
1351	COX8A	HP:0002827	Hip dislocation	1/1	OMIM:619059
1351	COX8A	HP:0000252	Microcephaly	1/1	OMIM:619059
1351	COX8A	HP:0032794	Myoclonic seizure	1/1	OMIM:619059
1351	COX8A	HP:0000490	Deeply set eye	1/1	OMIM:619059
1351	COX8A	HP:0012444	Brain atrophy	1/1	OMIM:619059
1351	COX8A	HP:0000580	Pigmentary retinopathy	1/1	OMIM:619059
1352	COX10	HP:0002490	Increased CSF lactate	-	OMIM:220110
1352	COX10	HP:0002490	Increased CSF lactate	2/2	OMIM:619046
1352	COX10	HP:0001290	Generalized hypotonia	11/11	OMIM:220110
1352	COX10	HP:0001290	Generalized hypotonia	1/1	OMIM:619046
1352	COX10	HP:0001270	Motor delay	-	OMIM:220110
1352	COX10	HP:0001250	Seizure	-	OMIM:220110
1352	COX10	HP:0001252	Hypotonia	2/2	OMIM:220110
1352	COX10	HP:0001251	Ataxia	2/2	OMIM:220110
1352	COX10	HP:0001251	Ataxia	2/2	OMIM:619046
1352	COX10	HP:0001249	Intellectual disability	-	OMIM:220110
1352	COX10	HP:0001263	Global developmental delay	-	OMIM:220110
1352	COX10	HP:0003819	Death in childhood	2/2	OMIM:220110
1352	COX10	HP:0000093	Proteinuria	-	OMIM:220110
1352	COX10	HP:0001348	Brisk reflexes	11/11	OMIM:220110
1352	COX10	HP:0001348	Brisk reflexes	1/1	OMIM:619046
1352	COX10	HP:0008872	Feeding difficulties in infancy	1/2	OMIM:619046
1352	COX10	HP:0001324	Muscle weakness	1/1	OMIM:619046
1352	COX10	HP:0000007	Autosomal recessive inheritance	-	OMIM:619046
1352	COX10	HP:0000007	Autosomal recessive inheritance	-	OMIM:220110
1352	COX10	HP:0000124	Renal tubular dysfunction	-	OMIM:220110
1352	COX10	HP:0001427	Mitochondrial inheritance	-	OMIM:220110
1352	COX10	HP:0001410	Decreased liver function	-	OMIM:220110
1352	COX10	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:220110
1352	COX10	HP:0003355	Aminoaciduria	-	OMIM:220110
1352	COX10	HP:0003348	Hyperalaninemia	1/2	OMIM:619046
1352	COX10	HP:0002098	Respiratory distress	-	OMIM:220110
1352	COX10	HP:0002078	Truncal ataxia	11/11	OMIM:220110
1352	COX10	HP:0002151	Increased circulating lactate concentration	-	OMIM:220110
1352	COX10	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:619046
1352	COX10	HP:0002133	Status epilepticus	1/1	OMIM:619046
1352	COX10	HP:0003593	Infantile onset	2/2	OMIM:220110
1352	COX10	HP:0003593	Infantile onset	1/2	OMIM:619046
1352	COX10	HP:0002240	Hepatomegaly	-	OMIM:220110
1352	COX10	HP:0003546	Exercise intolerance	-	OMIM:220110
1352	COX10	HP:0003542	Increased circulating pyruvate concentration	1/2	OMIM:619046
1352	COX10	HP:0008358	Hyperprolinemia	1/2	OMIM:619046
1352	COX10	HP:0003688	Cytochrome C oxidase-negative muscle fibers	15/15	OMIM:220110
1352	COX10	HP:0003688	Cytochrome C oxidase-negative muscle fibers	3/3	OMIM:619046
1352	COX10	HP:0002376	Developmental regression	13/13	OMIM:220110
1352	COX10	HP:0002352	Leukoencephalopathy	-	OMIM:220110
1352	COX10	HP:0003623	Neonatal onset	1/2	OMIM:619046
1352	COX10	HP:0000639	Nystagmus	1/1	OMIM:619046
1352	COX10	HP:0000648	Optic atrophy	2/2	OMIM:220110
1352	COX10	HP:0001972	Macrocytic anemia	1/2	OMIM:619046
1352	COX10	HP:0001942	Metabolic acidosis	1/1	OMIM:619046
1352	COX10	HP:0001903	Anemia	-	OMIM:220110
1352	COX10	HP:0012692	Focal T2 hyperintense thalamic lesion	1/1	OMIM:619046
1352	COX10	HP:0001998	Neonatal hypoglycemia	1/2	OMIM:619046
1352	COX10	HP:0001994	Renal Fanconi syndrome	-	OMIM:220110
1352	COX10	HP:0003076	Glycosuria	-	OMIM:220110
1352	COX10	HP:0000713	Agitation	1/1	OMIM:619046
1352	COX10	HP:0003109	Hyperphosphaturia	-	OMIM:220110
1352	COX10	HP:0003128	Lactic acidosis	13/13	OMIM:220110
1352	COX10	HP:0003128	Lactic acidosis	2/2	OMIM:619046
1352	COX10	HP:0000817	Reduced eye contact	1/1	OMIM:619046
1352	COX10	HP:0012240	Increased intramyocellular lipid droplets	-	OMIM:220110
1352	COX10	HP:0002878	Respiratory failure	2/2	OMIM:220110
1352	COX10	HP:0000218	High palate	-	OMIM:220110
1352	COX10	HP:0002875	Exertional dyspnea	-	OMIM:220110
1352	COX10	HP:0001522	Death in infancy	3/3	OMIM:619046
1352	COX10	HP:0001508	Failure to thrive	2/2	OMIM:220110
1352	COX10	HP:0001508	Failure to thrive	1/1	OMIM:619046
1352	COX10	HP:0006565	Increased hepatocellular lipid droplets	-	OMIM:220110
1352	COX10	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:220110
1352	COX10	HP:0001638	Cardiomyopathy	1/2	OMIM:619046
1352	COX10	HP:0030319	Weakness of facial musculature	-	OMIM:220110
1352	COX10	HP:0032988	Persistent head lag	1/1	OMIM:619046
1352	COX10	HP:0000407	Sensorineural hearing impairment	-	OMIM:220110
1352	COX10	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:619046
1352	COX10	HP:0001744	Splenomegaly	1/2	OMIM:619046
1352	COX10	HP:0000508	Ptosis	-	OMIM:220110
1352	COX10	HP:0000508	Ptosis	1/1	OMIM:619046
1352	COX10	HP:0000597	Ophthalmoparesis	2/2	OMIM:220110
1352	COX10	HP:0000580	Pigmentary retinopathy	-	OMIM:220110
1353	COX11	HP:0025116	Fetal distress	1/2	OMIM:620275
1353	COX11	HP:0002490	Increased CSF lactate	1/2	OMIM:620275
1353	COX11	HP:0003798	Nemaline bodies	1/2	OMIM:620275
1353	COX11	HP:0020221	Clonic seizure	1/2	OMIM:620275
1353	COX11	HP:0001252	Hypotonia	1/2	OMIM:620275
1353	COX11	HP:0007359	Focal-onset seizure	1/2	OMIM:620275
1353	COX11	HP:0000023	Inguinal hernia	1/2	OMIM:620275
1353	COX11	HP:0001348	Brisk reflexes	1/2	OMIM:620275
1353	COX11	HP:0000007	Autosomal recessive inheritance	-	OMIM:620275
1353	COX11	HP:0002791	Hypoventilation	1/2	OMIM:620275
1353	COX11	HP:0002020	Gastroesophageal reflux	1/2	OMIM:620275
1353	COX11	HP:0002063	Rigidity	1/2	OMIM:620275
1353	COX11	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:620275
1353	COX11	HP:0010548	Percussion myotonia	1/2	OMIM:620275
1353	COX11	HP:0003593	Infantile onset	1/2	OMIM:620275
1353	COX11	HP:0034671	Knee contracture	1/2	OMIM:620275
1353	COX11	HP:0011968	Feeding difficulties	1/2	OMIM:620275
1353	COX11	HP:0100660	Dyskinesia	1/2	OMIM:620275
1353	COX11	HP:0003623	Neonatal onset	1/2	OMIM:620275
1353	COX11	HP:0001943	Hypoglycemia	1/2	OMIM:620275
1353	COX11	HP:0012707	Elevated brain lactate level by MRS	1/2	OMIM:620275
1353	COX11	HP:0034391	Elbow contracture	1/2	OMIM:620275
1353	COX11	HP:0003270	Abdominal distention	1/2	OMIM:620275
1353	COX11	HP:0000252	Microcephaly	1/2	OMIM:620275
1353	COX11	HP:0001522	Death in infancy	2/2	OMIM:620275
1353	COX11	HP:0001537	Umbilical hernia	1/2	OMIM:620275
1353	COX11	HP:0001511	Intrauterine growth retardation	1/2	OMIM:620275
1353	COX11	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:620275
1353	COX11	HP:0012444	Brain atrophy	2/2	OMIM:620275
1353	COX11	HP:0000505	Visual impairment	1/2	OMIM:620275
1355	COX15	HP:0002490	Increased CSF lactate	-	OMIM:220110
1355	COX15	HP:0001298	Encephalopathy	-	OMIM:615119
1355	COX15	HP:0001290	Generalized hypotonia	11/11	OMIM:220110
1355	COX15	HP:0001270	Motor delay	-	OMIM:220110
1355	COX15	HP:0001250	Seizure	-	OMIM:220110
1355	COX15	HP:0001252	Hypotonia	1/1	OMIM:615119
1355	COX15	HP:0001252	Hypotonia	2/2	OMIM:220110
1355	COX15	HP:0001251	Ataxia	2/2	OMIM:220110
1355	COX15	HP:0001249	Intellectual disability	-	OMIM:220110
1355	COX15	HP:0001263	Global developmental delay	-	OMIM:220110
1355	COX15	HP:0003819	Death in childhood	2/2	OMIM:220110
1355	COX15	HP:0000093	Proteinuria	-	OMIM:220110
1355	COX15	HP:0001397	Hepatic steatosis	-	OMIM:615119
1355	COX15	HP:0001348	Brisk reflexes	11/11	OMIM:220110
1355	COX15	HP:0000007	Autosomal recessive inheritance	-	OMIM:615119
1355	COX15	HP:0000007	Autosomal recessive inheritance	-	OMIM:220110
1355	COX15	HP:0000124	Renal tubular dysfunction	-	OMIM:220110
1355	COX15	HP:0001427	Mitochondrial inheritance	-	OMIM:220110
1355	COX15	HP:0001410	Decreased liver function	-	OMIM:220110
1355	COX15	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:220110
1355	COX15	HP:0003355	Aminoaciduria	-	OMIM:220110
1355	COX15	HP:0011800	Midface retrusion	1/1	OMIM:615119
1355	COX15	HP:0002098	Respiratory distress	-	OMIM:220110
1355	COX15	HP:0002061	Lower limb spasticity	1/1	OMIM:615119
1355	COX15	HP:0002078	Truncal ataxia	11/11	OMIM:220110
1355	COX15	HP:0002151	Increased circulating lactate concentration	-	OMIM:220110
1355	COX15	HP:0002171	Gliosis	-	OMIM:615119
1355	COX15	HP:0003593	Infantile onset	1/1	OMIM:615119
1355	COX15	HP:0003593	Infantile onset	2/2	OMIM:220110
1355	COX15	HP:0002240	Hepatomegaly	-	OMIM:220110
1355	COX15	HP:0003546	Exercise intolerance	-	OMIM:220110
1355	COX15	HP:0011968	Feeding difficulties	1/1	OMIM:615119
1355	COX15	HP:0003688	Cytochrome C oxidase-negative muscle fibers	15/15	OMIM:220110
1355	COX15	HP:0002376	Developmental regression	13/13	OMIM:220110
1355	COX15	HP:0002352	Leukoencephalopathy	-	OMIM:220110
1355	COX15	HP:0025085	Bloody diarrhea	1/1	OMIM:615119
1355	COX15	HP:0007146	Bilateral basal ganglia lesions	1/1	OMIM:615119
1355	COX15	HP:0003623	Neonatal onset	1/1	OMIM:615119
1355	COX15	HP:0000648	Optic atrophy	2/2	OMIM:220110
1355	COX15	HP:0001903	Anemia	-	OMIM:220110
1355	COX15	HP:0001994	Renal Fanconi syndrome	-	OMIM:220110
1355	COX15	HP:0000666	Horizontal nystagmus	1/1	OMIM:615119
1355	COX15	HP:0003076	Glycosuria	-	OMIM:220110
1355	COX15	HP:0003109	Hyperphosphaturia	-	OMIM:220110
1355	COX15	HP:0003128	Lactic acidosis	13/13	OMIM:220110
1355	COX15	HP:0003128	Lactic acidosis	1/1	OMIM:615119
1355	COX15	HP:0033044	Motor regression	1/1	OMIM:615119
1355	COX15	HP:0012240	Increased intramyocellular lipid droplets	-	OMIM:220110
1355	COX15	HP:0000252	Microcephaly	-	OMIM:615119
1355	COX15	HP:0002878	Respiratory failure	2/2	OMIM:220110
1355	COX15	HP:0000218	High palate	-	OMIM:220110
1355	COX15	HP:0002875	Exertional dyspnea	-	OMIM:220110
1355	COX15	HP:0001558	Decreased fetal movement	-	OMIM:615119
1355	COX15	HP:0001508	Failure to thrive	2/2	OMIM:220110
1355	COX15	HP:0006565	Increased hepatocellular lipid droplets	-	OMIM:220110
1355	COX15	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:220110
1355	COX15	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:615119
1355	COX15	HP:0001638	Cardiomyopathy	-	OMIM:615119
1355	COX15	HP:0030319	Weakness of facial musculature	-	OMIM:220110
1355	COX15	HP:0000407	Sensorineural hearing impairment	-	OMIM:220110
1355	COX15	HP:0000488	Retinopathy	1/1	OMIM:615119
1355	COX15	HP:0000508	Ptosis	-	OMIM:220110
1355	COX15	HP:0000597	Ophthalmoparesis	2/2	OMIM:220110
1355	COX15	HP:0000580	Pigmentary retinopathy	-	OMIM:220110
1356	CP	HP:0001251	Ataxia	HP:0040282	ORPHA:48818
1356	CP	HP:0001251	Ataxia	-	OMIM:604290
1356	CP	HP:0001260	Dysarthria	HP:0040282	ORPHA:48818
1356	CP	HP:0001260	Dysarthria	-	OMIM:604290
1356	CP	HP:0010994	Abnormal corpus striatum morphology	HP:0040283	ORPHA:48818
1356	CP	HP:0001395	Hepatic fibrosis	-	ORPHA:48818
1356	CP	HP:0001394	Cirrhosis	-	ORPHA:48818
1356	CP	HP:0012090	Abnormal pancreas morphology	HP:0040283	ORPHA:48818
1356	CP	HP:0001332	Dystonia	HP:0040282	ORPHA:48818
1356	CP	HP:0000007	Autosomal recessive inheritance	-	OMIM:604290
1356	CP	HP:0001337	Tremor	HP:0040283	ORPHA:48818
1356	CP	HP:0001300	Parkinsonism	HP:0040283	ORPHA:48818
1356	CP	HP:0025498	Aceruloplasminemia	-	OMIM:604290
1356	CP	HP:0025498	Aceruloplasminemia	HP:0040281	ORPHA:48818
1356	CP	HP:0012179	Craniofacial dystonia	HP:0040283	ORPHA:48818
1356	CP	HP:0040303	Decreased circulating iron concentration	-	OMIM:604290
1356	CP	HP:0040303	Decreased circulating iron concentration	HP:0040282	ORPHA:48818
1356	CP	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:48818
1356	CP	HP:0002066	Gait ataxia	HP:0040282	ORPHA:48818
1356	CP	HP:0002063	Rigidity	HP:0040283	ORPHA:48818
1356	CP	HP:0002072	Chorea	-	OMIM:604290
1356	CP	HP:0002072	Chorea	HP:0040282	ORPHA:48818
1356	CP	HP:0002070	Limb ataxia	HP:0040282	ORPHA:48818
1356	CP	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:604290
1356	CP	HP:0002168	Scanning speech	-	OMIM:604290
1356	CP	HP:0003581	Adult onset	-	OMIM:604290
1356	CP	HP:0011967	Decreased circulating copper concentration	HP:0040282	ORPHA:48818
1356	CP	HP:0004840	Hypochromic microcytic anemia	HP:0040281	ORPHA:48818
1356	CP	HP:0002396	Cogwheel rigidity	-	OMIM:604290
1356	CP	HP:0002354	Memory impairment	HP:0040283	ORPHA:48818
1356	CP	HP:0010837	Decreased circulating ceruloplasmin concentration	HP:0040282	ORPHA:48818
1356	CP	HP:0002304	Akinesia	HP:0040283	ORPHA:48818
1356	CP	HP:0005505	Refractory anemia	HP:0040281	ORPHA:48818
1356	CP	HP:0000639	Nystagmus	HP:0040283	ORPHA:48818
1356	CP	HP:0000643	Blepharospasm	-	OMIM:604290
1356	CP	HP:0000643	Blepharospasm	HP:0040283	ORPHA:48818
1356	CP	HP:0000608	Macular degeneration	HP:0040282	ORPHA:48818
1356	CP	HP:0001903	Anemia	-	OMIM:604290
1356	CP	HP:0012696	Abnormal thalamic MRI signal intensity	HP:0040283	ORPHA:48818
1356	CP	HP:0012675	Iron accumulation in brain	HP:0040283	ORPHA:48818
1356	CP	HP:0004305	Involuntary movements	HP:0040282	ORPHA:48818
1356	CP	HP:0000741	Apathy	HP:0040283	ORPHA:48818
1356	CP	HP:0000726	Dementia	-	OMIM:604290
1356	CP	HP:0000707	Abnormality of the nervous system	HP:0040281	ORPHA:48818
1356	CP	HP:0100321	Abnormal dentate nucleus morphology	HP:0040283	ORPHA:48818
1356	CP	HP:0000819	Diabetes mellitus	-	OMIM:604290
1356	CP	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:48818
1356	CP	HP:0003281	Increased circulating ferritin concentration	-	OMIM:604290
1356	CP	HP:0003281	Increased circulating ferritin concentration	HP:0040281	ORPHA:48818
1356	CP	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:48818
1356	CP	HP:0000273	Facial grimacing	HP:0040283	ORPHA:48818
1356	CP	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:48818
1356	CP	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:48818
1356	CP	HP:0012465	Elevated hepatic iron concentration	HP:0040282	ORPHA:48818
1356	CP	HP:0000473	Torticollis	-	OMIM:604290
1356	CP	HP:0000473	Torticollis	HP:0040283	ORPHA:48818
1356	CP	HP:0000546	Retinal degeneration	-	OMIM:604290
1356	CP	HP:0000546	Retinal degeneration	HP:0040282	ORPHA:48818
1357	CPA1	HP:0002027	Abdominal pain	HP:0040281	ORPHA:676
1357	CPA1	HP:0001974	Increased total leukocyte count	HP:0040281	ORPHA:676
1357	CPA1	HP:0100027	Recurrent pancreatitis	HP:0040281	ORPHA:676
1357	CPA1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:676
1357	CPA1	HP:0000952	Jaundice	HP:0040283	ORPHA:676
1357	CPA1	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040282	ORPHA:676
1357	CPA1	HP:0005213	Pancreatic calcification	HP:0040283	ORPHA:676
1357	CPA1	HP:0030247	Splanchnic vein thrombosis	HP:0040283	ORPHA:676
1357	CPA1	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040281	ORPHA:676
1363	CPE	HP:0001270	Motor delay	3/3	OMIM:619326
1363	CPE	HP:0001249	Intellectual disability	4/4	OMIM:619326
1363	CPE	HP:0031098	Decreased thyroid-stimulating hormone level	1/3	OMIM:619326
1363	CPE	HP:0000044	Hypogonadotropic hypogonadism	2/4	OMIM:619326
1363	CPE	HP:0000054	Micropenis	1/2	OMIM:619326
1363	CPE	HP:0000028	Cryptorchidism	1/2	OMIM:619326
1363	CPE	HP:0000007	Autosomal recessive inheritance	-	OMIM:619326
1363	CPE	HP:0008947	Floppy infant	2/3	OMIM:619326
1363	CPE	HP:0005978	Type II diabetes mellitus	1/1	OMIM:619326
1363	CPE	HP:0011787	Central hypothyroidism	2/3	OMIM:619326
1363	CPE	HP:0000771	Gynecomastia	1/2	OMIM:619326
1363	CPE	HP:0000786	Primary amenorrhea	2/2	OMIM:619326
1363	CPE	HP:0000842	Hyperinsulinemia	1/2	OMIM:619326
1363	CPE	HP:0000823	Delayed puberty	1/3	OMIM:619326
1363	CPE	HP:0033078	Decreased circulating free T4 concentration	3/3	OMIM:619326
1363	CPE	HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test	1/1	OMIM:619326
1363	CPE	HP:0040171	Decreased serum testosterone concentration	1/1	OMIM:619326
1363	CPE	HP:0000293	Full cheeks	3/3	OMIM:619326
1363	CPE	HP:0001513	Obesity	3/4	OMIM:619326
1363	CPE	HP:0000347	Micrognathia	3/3	OMIM:619326
1363	CPE	HP:0000311	Round face	3/3	OMIM:619326
1363	CPE	HP:0001631	Atrial septal defect	1/3	OMIM:619326
1363	CPE	HP:0000400	Macrotia	2/3	OMIM:619326
1363	CPE	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1/2	OMIM:619326
1369	CPN1	HP:6000560	Decreased circulating carboxypeptidase N activity	1/1	OMIM:212070
1369	CPN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:212070
1369	CPN1	HP:0001025	Urticaria	-	OMIM:212070
1369	CPN1	HP:0100665	Angioedema	-	OMIM:212070
1369	CPN1	HP:0003193	Allergic rhinitis	-	OMIM:212070
1371	CPOX	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:79273
1371	CPOX	HP:6000536	Elevated urinary coproporphyrin level	-	OMIM:121300
1371	CPOX	HP:0009937	Facial hirsutism	HP:0040283	ORPHA:79273
1371	CPOX	HP:0001289	Confusion	-	OMIM:121300
1371	CPOX	HP:0001250	Seizure	HP:0040283	ORPHA:79273
1371	CPOX	HP:0002572	Episodic vomiting	HP:0040282	ORPHA:79273
1371	CPOX	HP:6000698	Elevated circulating heptacarboxylporphyrin concentration	1/1	OMIM:121300
1371	CPOX	HP:0033627	Increased urine harderoporphyrin level	13/13	OMIM:618892
1371	CPOX	HP:0003829	Typified by incomplete penetrance	-	OMIM:121300
1371	CPOX	HP:0000007	Autosomal recessive inheritance	-	OMIM:618892
1371	CPOX	HP:0000006	Autosomal dominant inheritance	-	OMIM:121300
1371	CPOX	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:79273
1371	CPOX	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040282	ORPHA:79273
1371	CPOX	HP:0000112	Nephropathy	HP:0040283	ORPHA:79273
1371	CPOX	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:79273
1371	CPOX	HP:0002018	Nausea	HP:0040282	ORPHA:79273
1371	CPOX	HP:0002019	Constipation	-	OMIM:121300
1371	CPOX	HP:0002027	Abdominal pain	1/4	OMIM:121300
1371	CPOX	HP:0002027	Abdominal pain	HP:0040281	ORPHA:79273
1371	CPOX	HP:0040319	Dark urine	HP:0040282	ORPHA:79273
1371	CPOX	HP:0040318	Red urine	-	OMIM:618892
1371	CPOX	HP:0002014	Diarrhea	-	OMIM:121300
1371	CPOX	HP:0002013	Vomiting	-	OMIM:618892
1371	CPOX	HP:0002013	Vomiting	-	OMIM:121300
1371	CPOX	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:79273
1371	CPOX	HP:0034472	Increased fecal harderoporphyrin	3/3	OMIM:618892
1371	CPOX	HP:0034471	Increased fecal coproporphyrin III:coproporphyrin I ratio	-	OMIM:121300
1371	CPOX	HP:0010473	Porphyrinuria	HP:0040282	ORPHA:79273
1371	CPOX	HP:0010472	Abnormal circulating porphyrin concentration	HP:0040281	ORPHA:79273
1371	CPOX	HP:0003489	Acute episodes of neuropathic symptoms	1/4	OMIM:121300
1371	CPOX	HP:0003418	Back pain	HP:0040283	ORPHA:79273
1371	CPOX	HP:0002240	Hepatomegaly	-	OMIM:618892
1371	CPOX	HP:0002240	Hepatomegaly	-	OMIM:121300
1371	CPOX	HP:0002203	Respiratory paralysis	-	OMIM:121300
1371	CPOX	HP:0100785	Insomnia	-	OMIM:121300
1371	CPOX	HP:0011999	Paranoia	-	OMIM:121300
1371	CPOX	HP:0001030	Fragile skin	HP:0040283	ORPHA:79273
1371	CPOX	HP:0008528	Long hairs growing from helix of pinna	HP:0040283	ORPHA:79273
1371	CPOX	HP:0009830	Peripheral neuropathy	-	OMIM:121300
1371	CPOX	HP:0009763	Limb pain	HP:0040282	ORPHA:79273
1371	CPOX	HP:0007178	Motor polyneuropathy	HP:0040283	ORPHA:79273
1371	CPOX	HP:0001945	Fever	-	ORPHA:79273
1371	CPOX	HP:0001923	Reticulocytosis	-	OMIM:618892
1371	CPOX	HP:0001903	Anemia	-	ORPHA:79273
1371	CPOX	HP:0000738	Hallucinations	-	OMIM:121300
1371	CPOX	HP:0000739	Anxiety	-	OMIM:121300
1371	CPOX	HP:0000716	Depression	-	OMIM:121300
1371	CPOX	HP:0000709	Psychosis	HP:0040283	ORPHA:79273
1371	CPOX	HP:0011462	Young adult onset	-	OMIM:121300
1371	CPOX	HP:0003163	Elevated urinary delta-aminolevulinic acid	HP:0040281	ORPHA:79273
1371	CPOX	HP:0003163	Elevated urinary delta-aminolevulinic acid	4/6	OMIM:121300
1371	CPOX	HP:0012850	Small intestinal dysmotility	HP:0040283	ORPHA:79273
1371	CPOX	HP:0000822	Hypertension	-	OMIM:121300
1371	CPOX	HP:0003281	Increased circulating ferritin concentration	-	OMIM:618892
1371	CPOX	HP:0003265	Neonatal hyperbilirubinemia	-	OMIM:618892
1371	CPOX	HP:0000992	Cutaneous photosensitivity	-	OMIM:618892
1371	CPOX	HP:0000992	Cutaneous photosensitivity	-	OMIM:121300
1371	CPOX	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:79273
1371	CPOX	HP:0000987	Atypical scarring of skin	HP:0040282	ORPHA:79273
1371	CPOX	HP:0033010	Increased fecal coproporphyrin 3	4/4	OMIM:121300
1371	CPOX	HP:0000953	Hyperpigmentation of the skin	-	OMIM:618892
1371	CPOX	HP:0000952	Jaundice	-	OMIM:121300
1371	CPOX	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:79273
1371	CPOX	HP:0012217	Increased urinary porphobilinogen	HP:0040282	ORPHA:79273
1371	CPOX	HP:0012217	Increased urinary porphobilinogen	2/4	OMIM:121300
1371	CPOX	HP:0012217	Increased urinary porphobilinogen	-	OMIM:618892
1371	CPOX	HP:0006579	Prolonged neonatal jaundice	-	OMIM:618892
1371	CPOX	HP:0002902	Hyponatremia	HP:0040283	ORPHA:79273
1371	CPOX	HP:0001649	Tachycardia	-	OMIM:121300
1371	CPOX	HP:0001649	Tachycardia	HP:0040283	ORPHA:79273
1371	CPOX	HP:0032936	Intrusion symptom	HP:0040283	ORPHA:79273
1371	CPOX	HP:0005325	Extension of hair growth on temples to lateral eyebrow	HP:0040283	ORPHA:79273
1371	CPOX	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:79273
1371	CPOX	HP:0001744	Splenomegaly	-	OMIM:618892
1371	CPOX	HP:0001744	Splenomegaly	-	OMIM:121300
1371	CPOX	HP:0001878	Hemolytic anemia	-	OMIM:618892
1373	CPS1	HP:0001297	Stroke	HP:0040283	OMIM:237300
1373	CPS1	HP:0001254	Lethargy	1/1	OMIM:237300
1373	CPS1	HP:0001250	Seizure	-	OMIM:237300
1373	CPS1	HP:0001250	Seizure	HP:0040281	ORPHA:147
1373	CPS1	HP:0001252	Hypotonia	HP:0040281	ORPHA:147
1373	CPS1	HP:0001251	Ataxia	-	OMIM:237300
1373	CPS1	HP:0001249	Intellectual disability	-	OMIM:237300
1373	CPS1	HP:0001263	Global developmental delay	-	OMIM:237300
1373	CPS1	HP:0001259	Coma	-	OMIM:237300
1373	CPS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:237300
1373	CPS1	HP:0003355	Aminoaciduria	HP:0040281	ORPHA:147
1373	CPS1	HP:0002013	Vomiting	-	OMIM:237300
1373	CPS1	HP:0005961	Hypoargininemia	HP:0040281	ORPHA:147
1373	CPS1	HP:0005961	Hypoargininemia	-	OMIM:237300
1373	CPS1	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:147
1373	CPS1	HP:0002038	Protein avoidance	-	OMIM:237300
1373	CPS1	HP:0002181	Cerebral edema	-	OMIM:237300
1373	CPS1	HP:0003572	Low plasma citrulline	-	OMIM:237300
1373	CPS1	HP:0003623	Neonatal onset	1/1	OMIM:237300
1373	CPS1	HP:0001951	Episodic ammonia intoxication	HP:0040281	ORPHA:147
1373	CPS1	HP:0001951	Episodic ammonia intoxication	-	OMIM:237300
1373	CPS1	HP:0001950	Respiratory alkalosis	-	OMIM:237300
1373	CPS1	HP:0001987	Hyperammonemia	HP:0040281	ORPHA:147
1373	CPS1	HP:0001987	Hyperammonemia	1/1	OMIM:237300
1373	CPS1	HP:0000737	Irritability	-	OMIM:237300
1373	CPS1	HP:0001508	Failure to thrive	-	OMIM:237300
1374	CPT1A	HP:0001290	Generalized hypotonia	-	OMIM:255120
1374	CPT1A	HP:0001270	Motor delay	1/1	OMIM:255120
1374	CPT1A	HP:0001254	Lethargy	HP:0040282	ORPHA:156
1374	CPT1A	HP:0001254	Lethargy	1/1	OMIM:255120
1374	CPT1A	HP:0001250	Seizure	-	OMIM:255120
1374	CPT1A	HP:0001250	Seizure	HP:0040281	ORPHA:156
1374	CPT1A	HP:0001252	Hypotonia	1/1	OMIM:255120
1374	CPT1A	HP:0001252	Hypotonia	HP:0040281	ORPHA:156
1374	CPT1A	HP:0001265	Hyporeflexia	1/1	OMIM:255120
1374	CPT1A	HP:0001259	Coma	HP:0040282	ORPHA:156
1374	CPT1A	HP:0001259	Coma	-	OMIM:255120
1374	CPT1A	HP:0007335	Recurrent encephalopathy	1/1	OMIM:255120
1374	CPT1A	HP:0001397	Hepatic steatosis	-	OMIM:255120
1374	CPT1A	HP:0001399	Hepatic failure	HP:0040281	ORPHA:156
1374	CPT1A	HP:0002686	Pregnancy history	-	OMIM:255120
1374	CPT1A	HP:0001324	Muscle weakness	0/1	OMIM:255120
1374	CPT1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:255120
1374	CPT1A	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:156
1374	CPT1A	HP:0002014	Diarrhea	1/1	OMIM:255120
1374	CPT1A	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:156
1374	CPT1A	HP:0008279	Transient hyperlipidemia	HP:0040282	ORPHA:156
1374	CPT1A	HP:0008279	Transient hyperlipidemia	-	OMIM:255120
1374	CPT1A	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:156
1374	CPT1A	HP:0002240	Hepatomegaly	1/1	OMIM:255120
1374	CPT1A	HP:0011968	Feeding difficulties	1/1	OMIM:255120
1374	CPT1A	HP:0007185	Loss of consciousness	HP:0040282	ORPHA:156
1374	CPT1A	HP:0001947	Renal tubular acidosis	HP:0040283	ORPHA:156
1374	CPT1A	HP:0001947	Renal tubular acidosis	-	OMIM:255120
1374	CPT1A	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:156
1374	CPT1A	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:156
1374	CPT1A	HP:0001987	Hyperammonemia	-	OMIM:255120
1374	CPT1A	HP:0001985	Hypoketotic hypoglycemia	1/1	OMIM:255120
1374	CPT1A	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:255120
1374	CPT1A	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:255120
1374	CPT1A	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:156
1374	CPT1A	HP:0000708	Atypical behavior	HP:0040281	ORPHA:156
1374	CPT1A	HP:0011463	Childhood onset	1/1	OMIM:255120
1374	CPT1A	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:255120
1374	CPT1A	HP:0003215	Dicarboxylic aciduria	1/1	OMIM:255120
1374	CPT1A	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:156
1374	CPT1A	HP:0011675	Arrhythmia	HP:0040283	ORPHA:156
1374	CPT1A	HP:0011675	Arrhythmia	-	OMIM:255120
1374	CPT1A	HP:0012378	Fatigue	HP:0040281	ORPHA:156
1374	CPT1A	HP:0002919	Ketonuria	0/1	OMIM:255120
1374	CPT1A	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:156
1374	CPT1A	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:255120
1374	CPT1A	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:156
1374	CPT1A	HP:0001640	Cardiomegaly	-	OMIM:255120
1374	CPT1A	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:156
1376	CPT2	HP:0001182	Tapered finger	-	OMIM:608836
1376	CPT2	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:228302
1376	CPT2	HP:0007229	Intracerebral periventricular calcifications	-	OMIM:608836
1376	CPT2	HP:0007229	Intracerebral periventricular calcifications	HP:0040283	ORPHA:228308
1376	CPT2	HP:0003738	Exercise-induced myalgia	HP:0040281	ORPHA:228302
1376	CPT2	HP:0003738	Exercise-induced myalgia	HP:0040282	ORPHA:228305
1376	CPT2	HP:0003710	Exercise-induced muscle cramps	HP:0040283	ORPHA:228302
1376	CPT2	HP:0003710	Exercise-induced muscle cramps	HP:0040282	ORPHA:228305
1376	CPT2	HP:0001298	Encephalopathy	-	OMIM:614212
1376	CPT2	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:228308
1376	CPT2	HP:0100807	Long fingers	-	OMIM:608836
1376	CPT2	HP:0001274	Agenesis of corpus callosum	1/1	OMIM:608836
1376	CPT2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:228308
1376	CPT2	HP:0001254	Lethargy	-	OMIM:600649
1376	CPT2	HP:0001254	Lethargy	1/2	OMIM:608836
1376	CPT2	HP:0001250	Seizure	HP:0040283	ORPHA:228305
1376	CPT2	HP:0001250	Seizure	HP:0040282	ORPHA:228308
1376	CPT2	HP:0001250	Seizure	-	OMIM:600649
1376	CPT2	HP:0001250	Seizure	-	OMIM:614212
1376	CPT2	HP:0001250	Seizure	11/12	OMIM:608836
1376	CPT2	HP:0001252	Hypotonia	1/1	OMIM:608836
1376	CPT2	HP:0001259	Coma	-	OMIM:614212
1376	CPT2	HP:0001259	Coma	HP:0040283	ORPHA:228308
1376	CPT2	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:228305
1376	CPT2	HP:0008682	Renal tubular epithelial necrosis	HP:0040283	ORPHA:228302
1376	CPT2	HP:0008682	Renal tubular epithelial necrosis	HP:0040283	ORPHA:228308
1376	CPT2	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:228308
1376	CPT2	HP:0000083	Renal insufficiency	5/28	OMIM:255110
1376	CPT2	HP:0000083	Renal insufficiency	1/1	OMIM:608836
1376	CPT2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:228302
1376	CPT2	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:228308
1376	CPT2	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:228305
1376	CPT2	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:228308
1376	CPT2	HP:0001399	Hepatic failure	HP:0040283	ORPHA:228305
1376	CPT2	HP:0001399	Hepatic failure	HP:0040282	ORPHA:228308
1376	CPT2	HP:0000073	Ureteral duplication	-	OMIM:608836
1376	CPT2	HP:0008872	Feeding difficulties in infancy	1/2	OMIM:608836
1376	CPT2	HP:0001324	Muscle weakness	HP:0040282	ORPHA:228302
1376	CPT2	HP:0001324	Muscle weakness	HP:0040282	ORPHA:228305
1376	CPT2	HP:0001324	Muscle weakness	17/28	OMIM:255110
1376	CPT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:255110
1376	CPT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:608836
1376	CPT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:600649
1376	CPT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614212
1376	CPT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:255110
1376	CPT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614212
1376	CPT2	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:228305
1376	CPT2	HP:0001302	Pachygyria	HP:0040283	ORPHA:228308
1376	CPT2	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:228308
1376	CPT2	HP:0001319	Neonatal hypotonia	-	OMIM:608836
1376	CPT2	HP:0002643	Neonatal respiratory distress	1/2	OMIM:608836
1376	CPT2	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:228308
1376	CPT2	HP:0000189	Narrow palate	-	OMIM:608836
1376	CPT2	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:600649
1376	CPT2	HP:0002705	High, narrow palate	HP:0040283	ORPHA:228308
1376	CPT2	HP:0000113	Polycystic kidney dysplasia	-	OMIM:608836
1376	CPT2	HP:0000113	Polycystic kidney dysplasia	HP:0040282	ORPHA:228308
1376	CPT2	HP:0000126	Hydronephrosis	1/2	OMIM:608836
1376	CPT2	HP:0000110	Renal dysplasia	1/2	OMIM:608836
1376	CPT2	HP:0000105	Enlarged kidney	1/1	OMIM:608836
1376	CPT2	HP:0001403	Macrovesicular hepatic steatosis	-	OMIM:608836
1376	CPT2	HP:0001403	Macrovesicular hepatic steatosis	-	OMIM:600649
1376	CPT2	HP:0003326	Myalgia	27/28	OMIM:255110
1376	CPT2	HP:0003326	Myalgia	HP:0040281	ORPHA:228302
1376	CPT2	HP:0003326	Myalgia	HP:0040282	ORPHA:228305
1376	CPT2	HP:0002014	Diarrhea	1/2	OMIM:608836
1376	CPT2	HP:0002013	Vomiting	-	OMIM:600649
1376	CPT2	HP:0002013	Vomiting	1/2	OMIM:608836
1376	CPT2	HP:0040320	Red-brown urine	HP:0040281	ORPHA:228302
1376	CPT2	HP:0040320	Red-brown urine	HP:0040282	ORPHA:228305
1376	CPT2	HP:0040320	Red-brown urine	HP:0040281	ORPHA:228308
1376	CPT2	HP:0005943	Respiratory arrest	1/1	OMIM:600649
1376	CPT2	HP:0002093	Respiratory insufficiency	-	OMIM:608836
1376	CPT2	HP:0003394	Muscle spasm	HP:0040283	ORPHA:228302
1376	CPT2	HP:0003394	Muscle spasm	-	OMIM:255110
1376	CPT2	HP:0003455	Elevated circulating long chain fatty acid concentration	-	OMIM:608836
1376	CPT2	HP:0003455	Elevated circulating long chain fatty acid concentration	HP:0040282	ORPHA:228302
1376	CPT2	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:228308
1376	CPT2	HP:0002119	Ventriculomegaly	1/1	OMIM:608836
1376	CPT2	HP:0003449	Cold-induced muscle cramps	HP:0040283	ORPHA:228302
1376	CPT2	HP:0003449	Cold-induced muscle cramps	HP:0040282	ORPHA:228305
1376	CPT2	HP:0002134	Abnormal basal ganglia morphology	HP:0040283	ORPHA:228308
1376	CPT2	HP:0002126	Polymicrogyria	-	OMIM:608836
1376	CPT2	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:228308
1376	CPT2	HP:0004756	Ventricular tachycardia	1/1	OMIM:600649
1376	CPT2	HP:0002104	Apnea	-	OMIM:608836
1376	CPT2	HP:0011936	Decreased plasma total carnitine	-	OMIM:608836
1376	CPT2	HP:0011936	Decreased plasma total carnitine	HP:0040282	ORPHA:228305
1376	CPT2	HP:0011936	Decreased plasma total carnitine	HP:0040281	ORPHA:228308
1376	CPT2	HP:0002181	Cerebral edema	-	OMIM:614212
1376	CPT2	HP:0010511	Long toe	-	OMIM:608836
1376	CPT2	HP:0008293	Long-chain dicarboxylic aciduria	1/1	OMIM:608836
1376	CPT2	HP:0003593	Infantile onset	-	OMIM:600649
1376	CPT2	HP:0002269	Abnormality of neuronal migration	-	OMIM:608836
1376	CPT2	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:228308
1376	CPT2	HP:0003573	Increased total bilirubin	-	OMIM:608836
1376	CPT2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:228305
1376	CPT2	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:228308
1376	CPT2	HP:0002240	Hepatomegaly	1/1	OMIM:600649
1376	CPT2	HP:0002240	Hepatomegaly	-	OMIM:608836
1376	CPT2	HP:0003552	Muscle stiffness	-	OMIM:255110
1376	CPT2	HP:0003546	Exercise intolerance	HP:0040281	ORPHA:228302
1376	CPT2	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:228305
1376	CPT2	HP:0007023	Antenatal intracerebral hemorrhage	-	OMIM:608836
1376	CPT2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:228308
1376	CPT2	HP:0011964	Intermittent painful muscle spasms	HP:0040283	ORPHA:228302
1376	CPT2	HP:0011964	Intermittent painful muscle spasms	HP:0040282	ORPHA:228305
1376	CPT2	HP:0032066	Decreased serum bicarbonate concentration	1/2	OMIM:608836
1376	CPT2	HP:0008315	Decreased plasma free carnitine	1/1	OMIM:608836
1376	CPT2	HP:0008315	Decreased plasma free carnitine	HP:0040282	ORPHA:228305
1376	CPT2	HP:0008315	Decreased plasma free carnitine	HP:0040281	ORPHA:228308
1376	CPT2	HP:0002315	Headache	HP:0040282	ORPHA:228305
1376	CPT2	HP:0001970	Tubulointerstitial nephritis	HP:0040283	ORPHA:228302
1376	CPT2	HP:0001970	Tubulointerstitial nephritis	HP:0040283	ORPHA:228308
1376	CPT2	HP:0001943	Hypoglycemia	1/2	OMIM:608836
1376	CPT2	HP:0001945	Fever	-	OMIM:614212
1376	CPT2	HP:0001945	Fever	1/2	OMIM:608836
1376	CPT2	HP:0001942	Metabolic acidosis	HP:0040283	ORPHA:228308
1376	CPT2	HP:0001958	Nonketotic hypoglycemia	-	OMIM:608836
1376	CPT2	HP:0009058	Increased muscle lipid content	-	OMIM:608836
1376	CPT2	HP:0009058	Increased muscle lipid content	HP:0040283	ORPHA:228302
1376	CPT2	HP:0001987	Hyperammonemia	-	OMIM:600649
1376	CPT2	HP:0001987	Hyperammonemia	-	OMIM:608836
1376	CPT2	HP:0001987	Hyperammonemia	HP:0040283	ORPHA:228308
1376	CPT2	HP:0001985	Hypoketotic hypoglycemia	1/1	OMIM:600649
1376	CPT2	HP:0001985	Hypoketotic hypoglycemia	HP:0040283	ORPHA:228305
1376	CPT2	HP:0001985	Hypoketotic hypoglycemia	HP:0040282	ORPHA:228308
1376	CPT2	HP:0011309	Tapered toe	-	OMIM:608836
1376	CPT2	HP:0031956	Elevated circulating aspartate aminotransferase concentration	3/3	OMIM:608836
1376	CPT2	HP:0031964	Elevated circulating alanine aminotransferase concentration	3/3	OMIM:608836
1376	CPT2	HP:0006929	Hypoglycemic encephalopathy	HP:0040283	ORPHA:228305
1376	CPT2	HP:0003077	Hyperlipidemia	HP:0040282	ORPHA:228308
1376	CPT2	HP:0000800	Cystic renal dysplasia	HP:0040282	ORPHA:228308
1376	CPT2	HP:0012722	Heart block	HP:0040283	ORPHA:228308
1376	CPT2	HP:0011463	Childhood onset	-	OMIM:255110
1376	CPT2	HP:0011462	Young adult onset	-	OMIM:255110
1376	CPT2	HP:0011461	Fetal onset	1/1	OMIM:608836
1376	CPT2	HP:0003198	Myopathy	HP:0040282	ORPHA:228305
1376	CPT2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:228302
1376	CPT2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:228305
1376	CPT2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:228308
1376	CPT2	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:600649
1376	CPT2	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:608836
1376	CPT2	HP:0003215	Dicarboxylic aciduria	HP:0040282	ORPHA:228308
1376	CPT2	HP:0003201	Rhabdomyolysis	HP:0040283	ORPHA:228302
1376	CPT2	HP:0003201	Rhabdomyolysis	HP:0040283	ORPHA:228305
1376	CPT2	HP:0003201	Rhabdomyolysis	5/28	OMIM:255110
1376	CPT2	HP:0045045	Elevated circulating acylcarnitine concentration	HP:0040282	ORPHA:228302
1376	CPT2	HP:0045045	Elevated circulating acylcarnitine concentration	HP:0040282	ORPHA:228305
1376	CPT2	HP:0045045	Elevated circulating acylcarnitine concentration	HP:0040281	ORPHA:228308
1376	CPT2	HP:0003259	Elevated circulating creatinine concentration	1/1	OMIM:608836
1376	CPT2	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:228302
1376	CPT2	HP:0011675	Arrhythmia	-	OMIM:608836
1376	CPT2	HP:0011675	Arrhythmia	HP:0040283	ORPHA:228305
1376	CPT2	HP:0011675	Arrhythmia	HP:0040282	ORPHA:228308
1376	CPT2	HP:0006380	Knee flexion contracture	-	OMIM:608836
1376	CPT2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:228308
1376	CPT2	HP:0000252	Microcephaly	-	OMIM:608836
1376	CPT2	HP:0002878	Respiratory failure	-	OMIM:608836
1376	CPT2	HP:0000218	High palate	1/1	OMIM:608836
1376	CPT2	HP:0001562	Oligohydramnios	HP:0040283	OMIM:608836
1376	CPT2	HP:0001522	Death in infancy	1/1	OMIM:608836
1376	CPT2	HP:0012380	Reduced tissue carnitine O-palmitoyltransferase 2 activity	HP:0040281	ORPHA:228302
1376	CPT2	HP:0012380	Reduced tissue carnitine O-palmitoyltransferase 2 activity	HP:0040281	ORPHA:228305
1376	CPT2	HP:0012380	Reduced tissue carnitine O-palmitoyltransferase 2 activity	HP:0040281	ORPHA:228308
1376	CPT2	HP:0000396	Overfolded helix	-	OMIM:608836
1376	CPT2	HP:0006559	Hepatic calcification	1/2	OMIM:608836
1376	CPT2	HP:0006559	Hepatic calcification	HP:0040283	ORPHA:228308
1376	CPT2	HP:0006561	Lipid accumulation in hepatocytes	1/1	OMIM:608836
1376	CPT2	HP:0002913	Myoglobinuria	HP:0040281	ORPHA:228302
1376	CPT2	HP:0002913	Myoglobinuria	HP:0040282	ORPHA:228305
1376	CPT2	HP:0002913	Myoglobinuria	HP:0040281	ORPHA:228308
1376	CPT2	HP:0002913	Myoglobinuria	22/28	OMIM:255110
1376	CPT2	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:600649
1376	CPT2	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:608836
1376	CPT2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:228305
1376	CPT2	HP:0000358	Posteriorly rotated ears	-	OMIM:608836
1376	CPT2	HP:0000369	Low-set ears	-	OMIM:608836
1376	CPT2	HP:0000340	Sloping forehead	-	OMIM:608836
1376	CPT2	HP:0000348	High forehead	-	OMIM:608836
1376	CPT2	HP:0001644	Dilated cardiomyopathy	-	OMIM:600649
1376	CPT2	HP:0001644	Dilated cardiomyopathy	-	OMIM:608836
1376	CPT2	HP:0002987	Elbow flexion contracture	-	OMIM:608836
1376	CPT2	HP:0001640	Cardiomegaly	1/1	OMIM:600649
1376	CPT2	HP:0001640	Cardiomegaly	-	OMIM:608836
1376	CPT2	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:228308
1376	CPT2	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:228305
1376	CPT2	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:228308
1376	CPT2	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:228308
1376	CPT2	HP:0006610	Wide intermamillary distance	-	OMIM:608836
1376	CPT2	HP:0001714	Ventricular hypertrophy	HP:0040283	ORPHA:228305
1376	CPT2	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:228308
1376	CPT2	HP:0000414	Bulbous nose	-	OMIM:608836
1376	CPT2	HP:0001742	Nasal congestion	1/2	OMIM:608836
1376	CPT2	HP:0001760	Abnormal foot morphology	-	OMIM:608836
1376	CPT2	HP:0006799	Basal ganglia cysts	-	OMIM:608836
1376	CPT2	HP:0000518	Cataract	-	OMIM:608836
1376	CPT2	HP:0001800	Hypoplastic toenails	-	OMIM:608836
1376	CPT2	HP:0011220	Prominent forehead	-	OMIM:608836
1380	CR2	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
1380	CR2	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
1380	CR2	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
1380	CR2	HP:0001287	Meningitis	-	OMIM:240500
1380	CR2	HP:0001250	Seizure	HP:0040283	ORPHA:536
1380	CR2	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
1380	CR2	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	4/4	OMIM:240500
1380	CR2	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
1380	CR2	HP:0001369	Arthritis	HP:0040282	ORPHA:536
1380	CR2	HP:0033834	Malaise	HP:0040281	ORPHA:536
1380	CR2	HP:0012085	Pyuria	HP:0040282	ORPHA:536
1380	CR2	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
1380	CR2	HP:0002664	Neoplasm	-	OMIM:240500
1380	CR2	HP:0025300	Malar rash	HP:0040282	ORPHA:536
1380	CR2	HP:0000010	Recurrent urinary tract infections	1/1	OMIM:614699
1380	CR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614699
1380	CR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:240500
1380	CR2	HP:0002665	Lymphoma	-	OMIM:240500
1380	CR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:240500
1380	CR2	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
1380	CR2	HP:0002719	Recurrent infections	-	OMIM:614699
1380	CR2	HP:0002718	Recurrent bacterial infections	-	OMIM:240500
1380	CR2	HP:0002716	Lymphadenopathy	-	OMIM:240500
1380	CR2	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
1380	CR2	HP:0002729	Follicular hyperplasia	-	OMIM:240500
1380	CR2	HP:0002720	Decreased circulating IgA concentration	5/5	OMIM:240500
1380	CR2	HP:0002720	Decreased circulating IgA concentration	1/1	OMIM:614699
1380	CR2	HP:0002028	Chronic diarrhea	1/1	OMIM:614699
1380	CR2	HP:0003326	Myalgia	1/1	OMIM:614699
1380	CR2	HP:0002014	Diarrhea	-	OMIM:240500
1380	CR2	HP:0002072	Chorea	HP:0040284	ORPHA:536
1380	CR2	HP:0002039	Anorexia	HP:0040281	ORPHA:536
1380	CR2	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
1380	CR2	HP:0002110	Bronchiectasis	-	OMIM:240500
1380	CR2	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
1380	CR2	HP:0011840	Abnormality of T cell physiology	-	OMIM:240500
1380	CR2	HP:0011839	Abnormal T cell count	0/5	OMIM:240500
1380	CR2	HP:0002240	Hepatomegaly	-	OMIM:240500
1380	CR2	HP:0002205	Recurrent respiratory infections	-	OMIM:614699
1380	CR2	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
1380	CR2	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
1380	CR2	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
1380	CR2	HP:0032132	Decreased circulating total IgG concentration	1/1	OMIM:614699
1380	CR2	HP:0032139	Reduced isohemagglutinin level	1/1	OMIM:614699
1380	CR2	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
1380	CR2	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
1380	CR2	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
1380	CR2	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
1380	CR2	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
1380	CR2	HP:0001945	Fever	HP:0040281	ORPHA:536
1380	CR2	HP:0001945	Fever	1/1	OMIM:614699
1380	CR2	HP:0004315	Decreased circulating IgG concentration	4/5	OMIM:240500
1380	CR2	HP:0000716	Depression	HP:0040283	ORPHA:536
1380	CR2	HP:0000790	Hematuria	HP:0040282	ORPHA:536
1380	CR2	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
1380	CR2	HP:0000822	Hypertension	HP:0040282	ORPHA:536
1380	CR2	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
1380	CR2	HP:0033050	Pharyngalgia	1/1	OMIM:614699
1380	CR2	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
1380	CR2	HP:0045073	Serositis	HP:0040283	ORPHA:536
1380	CR2	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
1380	CR2	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
1380	CR2	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
1380	CR2	HP:0001596	Alopecia	HP:0040282	ORPHA:536
1380	CR2	HP:0002837	Recurrent bronchitis	5/5	OMIM:240500
1380	CR2	HP:0002850	Decreased circulating total IgM	0/5	OMIM:240500
1380	CR2	HP:0012378	Fatigue	HP:0040281	ORPHA:536
1380	CR2	HP:0006532	Recurrent pneumonia	-	OMIM:240500
1380	CR2	HP:0002960	Autoimmunity	-	OMIM:240500
1380	CR2	HP:0005387	Combined immunodeficiency	5/5	OMIM:240500
1380	CR2	HP:0000403	Recurrent otitis media	5/5	OMIM:240500
1380	CR2	HP:0012476	Decreased specific pneumococcal antibody level	1/1	OMIM:614699
1380	CR2	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
1380	CR2	HP:0011108	Recurrent sinusitis	5/5	OMIM:240500
1380	CR2	HP:0001744	Splenomegaly	-	OMIM:240500
1380	CR2	HP:0001744	Splenomegaly	1/1	OMIM:614699
1380	CR2	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
1380	CR2	HP:0041070	Chronic partially decreased circulating IgG1	1/1	OMIM:614699
1380	CR2	HP:0001824	Weight loss	HP:0040281	ORPHA:536
1380	CR2	HP:0000509	Conjunctivitis	-	OMIM:240500
1380	CR2	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
1380	CR2	HP:0041059	Chronic (near) absent circulating IgG4	1/1	OMIM:614699
1380	CR2	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
1380	CR2	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
1384	CRAT	HP:0001272	Cerebellar atrophy	1/1	OMIM:617917
1384	CRAT	HP:0001270	Motor delay	1/1	OMIM:617917
1384	CRAT	HP:0001252	Hypotonia	1/1	OMIM:617917
1384	CRAT	HP:0001251	Ataxia	1/1	OMIM:617917
1384	CRAT	HP:0002505	Loss of ambulation	1/1	OMIM:617917
1384	CRAT	HP:0001347	Hyperreflexia	1/1	OMIM:617917
1384	CRAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:617917
1384	CRAT	HP:0001337	Tremor	1/1	OMIM:617917
1384	CRAT	HP:0001310	Dysmetria	1/1	OMIM:617917
1384	CRAT	HP:0002151	Increased circulating lactate concentration	0/1	OMIM:617917
1384	CRAT	HP:0003676	Progressive	-	OMIM:617917
1384	CRAT	HP:0002317	Unsteady gait	1/1	OMIM:617917
1384	CRAT	HP:0012675	Iron accumulation in brain	1/1	OMIM:617917
1384	CRAT	HP:0000763	Sensory neuropathy	1/1	OMIM:617917
1384	CRAT	HP:0000750	Delayed speech and language development	1/1	OMIM:617917
1384	CRAT	HP:0011463	Childhood onset	1/1	OMIM:617917
1385	CREB1	HP:0001442	Typified by somatic mosaicism	-	OMIM:612160
1385	CREB1	HP:0012315	Histiocytoma	-	OMIM:612160
1387	CREBBP	HP:0001181	Adducted thumb	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0001159	Syndactyly	1/1	OMIM:180849
1387	CREBBP	HP:0001159	Syndactyly	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0001128	Trichiasis	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0010935	Abnormality of the upper urinary tract	HP:0040283	ORPHA:592574
1387	CREBBP	HP:0020206	Simple ear	1/1	OMIM:180849
1387	CREBBP	HP:0002414	Spina bifida	1/1	OMIM:180849
1387	CREBBP	HP:0003745	Sporadic	-	OMIM:180849
1387	CREBBP	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1387	CREBBP	HP:0025269	Panic attack	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0025269	Panic attack	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0001293	Cranial nerve compression	-	OMIM:131300
1387	CREBBP	HP:0001274	Agenesis of corpus callosum	1/1	OMIM:180849
1387	CREBBP	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0001270	Motor delay	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0001250	Seizure	5/24	OMIM:618332
1387	CREBBP	HP:0001250	Seizure	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0001250	Seizure	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0001250	Seizure	0/6	OMIM:180849
1387	CREBBP	HP:0001250	Seizure	HP:0040283	ORPHA:592574
1387	CREBBP	HP:0001252	Hypotonia	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0001252	Hypotonia	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0001252	Hypotonia	4/4	OMIM:180849
1387	CREBBP	HP:0001252	Hypotonia	2/7	OMIM:615777
1387	CREBBP	HP:0001249	Intellectual disability	19/24	OMIM:618332
1387	CREBBP	HP:0001249	Intellectual disability	HP:0040281	ORPHA:353281
1387	CREBBP	HP:0001249	Intellectual disability	HP:0040281	ORPHA:353277
1387	CREBBP	HP:0001249	Intellectual disability	8/8	OMIM:180849
1387	CREBBP	HP:0001249	Intellectual disability	5/7	OMIM:615777
1387	CREBBP	HP:0001249	Intellectual disability	HP:0040281	ORPHA:592574
1387	CREBBP	HP:0001263	Global developmental delay	10/10	OMIM:180849
1387	CREBBP	HP:0001263	Global developmental delay	-	OMIM:615777
1387	CREBBP	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:353281
1387	CREBBP	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0008752	Laryngeal cartilage malformation	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0100852	Abnormal fear-induced behavior	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0100852	Abnormal fear-induced behavior	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0008689	Bilateral cryptorchidism	2/2	OMIM:180849
1387	CREBBP	HP:0001212	Prominent fingertip pads	-	OMIM:180849
1387	CREBBP	HP:0002553	Highly arched eyebrow	7/7	OMIM:180849
1387	CREBBP	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:353277
1387	CREBBP	HP:0002515	Waddling gait	54/102	OMIM:131300
1387	CREBBP	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0001371	Flexion contracture	4/24	OMIM:618332
1387	CREBBP	HP:0001371	Flexion contracture	-	OMIM:180849
1387	CREBBP	HP:0001385	Hip dysplasia	3/24	OMIM:618332
1387	CREBBP	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:592574
1387	CREBBP	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0001382	Joint hypermobility	4/24	OMIM:618332
1387	CREBBP	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0001382	Joint hypermobility	20/20	OMIM:180849
1387	CREBBP	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0001382	Joint hypermobility	-	OMIM:615777
1387	CREBBP	HP:0000047	Hypospadias	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0000047	Hypospadias	1/2	OMIM:180849
1387	CREBBP	HP:0000047	Hypospadias	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0000049	Shawl scrotum	-	OMIM:180849
1387	CREBBP	HP:0000023	Inguinal hernia	3/24	OMIM:618332
1387	CREBBP	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:592574
1387	CREBBP	HP:0001347	Hyperreflexia	-	OMIM:180849
1387	CREBBP	HP:0002697	Parietal foramina	-	OMIM:180849
1387	CREBBP	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1387	CREBBP	HP:0000034	Hydrocele testis	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0000028	Cryptorchidism	6/13	OMIM:618332
1387	CREBBP	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0000028	Cryptorchidism	1/4	OMIM:180849
1387	CREBBP	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1387	CREBBP	HP:0008897	Postnatal growth retardation	-	OMIM:180849
1387	CREBBP	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:353277
1387	CREBBP	HP:0008872	Feeding difficulties in infancy	4/4	OMIM:180849
1387	CREBBP	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:592574
1387	CREBBP	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0006200	Widened distal phalanges	HP:0040281	ORPHA:353277
1387	CREBBP	HP:0002664	Neoplasm	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0002664	Neoplasm	-	OMIM:180849
1387	CREBBP	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1387	CREBBP	HP:0001324	Muscle weakness	40/96	OMIM:131300
1387	CREBBP	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0001344	Absent speech	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0001344	Absent speech	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1387	CREBBP	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1387	CREBBP	HP:0000006	Autosomal dominant inheritance	-	OMIM:618332
1387	CREBBP	HP:0000006	Autosomal dominant inheritance	-	OMIM:180849
1387	CREBBP	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1387	CREBBP	HP:0002650	Scoliosis	6/24	OMIM:618332
1387	CREBBP	HP:0002650	Scoliosis	-	OMIM:180849
1387	CREBBP	HP:0002650	Scoliosis	12/14	OMIM:131300
1387	CREBBP	HP:0002650	Scoliosis	HP:0040283	ORPHA:592574
1387	CREBBP	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1387	CREBBP	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1387	CREBBP	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1387	CREBBP	HP:0000189	Narrow palate	3/3	OMIM:180849
1387	CREBBP	HP:0000189	Narrow palate	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0000189	Narrow palate	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1387	CREBBP	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0000160	Narrow mouth	1/1	OMIM:180849
1387	CREBBP	HP:0000175	Cleft palate	2/24	OMIM:618332
1387	CREBBP	HP:0000175	Cleft palate	1/1	OMIM:180849
1387	CREBBP	HP:0000175	Cleft palate	2/7	OMIM:615777
1387	CREBBP	HP:0000175	Cleft palate	HP:0040283	ORPHA:592574
1387	CREBBP	HP:0006349	Agenesis of permanent teeth	3/24	OMIM:618332
1387	CREBBP	HP:0002705	High, narrow palate	1/1	OMIM:180849
1387	CREBBP	HP:0002700	Large foramen magnum	-	OMIM:180849
1387	CREBBP	HP:0006297	Enamel hypoplasia	-	OMIM:180849
1387	CREBBP	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:180849
1387	CREBBP	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0002788	Recurrent upper respiratory tract infections	10/24	OMIM:618332
1387	CREBBP	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0000126	Hydronephrosis	1/1	OMIM:180849
1387	CREBBP	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0031207	Hepatic hemangioma	1/1	OMIM:180849
1387	CREBBP	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0002750	Delayed skeletal maturation	-	OMIM:180849
1387	CREBBP	HP:0031251	Abnormal subclavian artery morphology	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0002020	Gastroesophageal reflux	3/24	OMIM:618332
1387	CREBBP	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0002020	Gastroesophageal reflux	2/2	OMIM:180849
1387	CREBBP	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0002019	Constipation	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0002019	Constipation	-	OMIM:180849
1387	CREBBP	HP:0002019	Constipation	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0002002	Deep philtrum	6/24	OMIM:618332
1387	CREBBP	HP:0002000	Short columella	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0002000	Short columella	1/1	OMIM:180849
1387	CREBBP	HP:0002000	Short columella	14/24	OMIM:618332
1387	CREBBP	HP:0002007	Frontal bossing	-	OMIM:180849
1387	CREBBP	HP:0003319	Abnormality of the cervical spine	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0003319	Abnormality of the cervical spine	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0002098	Respiratory distress	-	OMIM:180849
1387	CREBBP	HP:0002099	Asthma	HP:0040284	ORPHA:353281
1387	CREBBP	HP:0002099	Asthma	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0002090	Pneumonia	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0002090	Pneumonia	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0003396	Syringomyelia	HP:0040284	ORPHA:353281
1387	CREBBP	HP:0003396	Syringomyelia	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0003388	Easy fatigability	36/76	OMIM:131300
1387	CREBBP	HP:0010442	Polydactyly	-	OMIM:180849
1387	CREBBP	HP:0010442	Polydactyly	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1387	CREBBP	HP:0008107	Plantar crease between first and second toes	-	OMIM:180849
1387	CREBBP	HP:0002144	Tethered cord	1/24	OMIM:618332
1387	CREBBP	HP:0002183	Phonophobia	-	OMIM:180849
1387	CREBBP	HP:0002162	Low posterior hairline	-	OMIM:180849
1387	CREBBP	HP:0010562	Keloids	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0010562	Keloids	2/5	OMIM:180849
1387	CREBBP	HP:0010562	Keloids	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0003593	Infantile onset	1/1	OMIM:180849
1387	CREBBP	HP:0003577	Congenital onset	6/6	OMIM:180849
1387	CREBBP	HP:0002236	Frontal upsweep of hair	-	OMIM:180849
1387	CREBBP	HP:0100710	Impulsivity	-	OMIM:180849
1387	CREBBP	HP:0100710	Impulsivity	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0100710	Impulsivity	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0002219	Facial hypertrichosis	4/4	OMIM:180849
1387	CREBBP	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0009715	Papillary cystadenoma of the epididymis	-	OMIM:180849
1387	CREBBP	HP:0010674	Abnormal curvature of the vertebral column	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0010674	Abnormal curvature of the vertebral column	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0011968	Feeding difficulties	18/24	OMIM:618332
1387	CREBBP	HP:0011968	Feeding difficulties	2/6	OMIM:180849
1387	CREBBP	HP:0010621	Cutaneous syndactyly of toes	7/24	OMIM:618332
1387	CREBBP	HP:0011947	Respiratory tract infection	1/1	OMIM:180849
1387	CREBBP	HP:0003510	Severe short stature	7/7	OMIM:615777
1387	CREBBP	HP:0007099	Chiari type I malformation	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0007086	Social and occupational deterioration	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0007086	Social and occupational deterioration	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0001042	High axial triradius	-	OMIM:180849
1387	CREBBP	HP:0002370	Poor coordination	-	OMIM:180849
1387	CREBBP	HP:0002341	Cervical cord compression	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0002341	Cervical cord compression	HP:0040284	ORPHA:353281
1387	CREBBP	HP:0001007	Hirsutism	5/6	OMIM:180849
1387	CREBBP	HP:0002353	EEG abnormality	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0002353	EEG abnormality	-	OMIM:180849
1387	CREBBP	HP:0002353	EEG abnormality	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0002317	Unsteady gait	-	OMIM:180849
1387	CREBBP	HP:0002315	Headache	-	OMIM:131300
1387	CREBBP	HP:0004976	Knee dislocation	6/7	OMIM:615777
1387	CREBBP	HP:0200006	Slanting of the palpebral fissure	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0009834	Abnormal proximal phalanx morphology of the hand	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0009834	Abnormal proximal phalanx morphology of the hand	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0009836	Broad distal phalanx of finger	1/1	OMIM:180849
1387	CREBBP	HP:0009836	Broad distal phalanx of finger	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0009836	Broad distal phalanx of finger	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0010803	Everted upper lip vermilion	8/24	OMIM:618332
1387	CREBBP	HP:0009803	Short phalanx of finger	-	OMIM:615777
1387	CREBBP	HP:0010775	Vascular ring	-	OMIM:180849
1387	CREBBP	HP:0010775	Vascular ring	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0010775	Vascular ring	HP:0040284	ORPHA:353281
1387	CREBBP	HP:0009778	Short thumb	1/1	OMIM:180849
1387	CREBBP	HP:0009763	Limb pain	63/92	OMIM:131300
1387	CREBBP	HP:0009765	Low hanging columella	6/6	OMIM:180849
1387	CREBBP	HP:0009765	Low hanging columella	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0009765	Low hanging columella	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0002311	Incoordination	1/1	OMIM:180849
1387	CREBBP	HP:0002308	Chiari malformation	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0002308	Chiari malformation	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0003621	Juvenile onset	-	OMIM:131300
1387	CREBBP	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1387	CREBBP	HP:0004209	Clinodactyly of the 5th finger	6/24	OMIM:618332
1387	CREBBP	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:180849
1387	CREBBP	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:592574
1387	CREBBP	HP:0010059	Broad hallux phalanx	1/1	OMIM:180849
1387	CREBBP	HP:0010066	Duplication of phalanx of hallux	-	OMIM:180849
1387	CREBBP	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1387	CREBBP	HP:0000639	Nystagmus	HP:0040283	ORPHA:353277
1387	CREBBP	HP:6001056	Out-toeing	-	OMIM:131300
1387	CREBBP	HP:0000651	Diplopia	-	OMIM:131300
1387	CREBBP	HP:0000618	Blindness	2/24	OMIM:618332
1387	CREBBP	HP:0001956	Truncal obesity	-	OMIM:180849
1387	CREBBP	HP:0001956	Truncal obesity	2/7	OMIM:615777
1387	CREBBP	HP:0001909	Leukemia	-	OMIM:180849
1387	CREBBP	HP:0001903	Anemia	HP:0040283	OMIM:131300
1387	CREBBP	HP:0010049	Short metacarpal	-	OMIM:615777
1387	CREBBP	HP:0010051	Deviation of the hallux	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0010055	Broad hallux	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0010055	Broad hallux	15/16	OMIM:180849
1387	CREBBP	HP:0010055	Broad hallux	HP:0040281	ORPHA:353277
1387	CREBBP	HP:0010055	Broad hallux	3/24	OMIM:618332
1387	CREBBP	HP:0011335	Frontal hirsutism	1/1	OMIM:180849
1387	CREBBP	HP:0000678	Dental crowding	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0000678	Dental crowding	-	OMIM:615777
1387	CREBBP	HP:0000678	Dental crowding	1/1	OMIM:180849
1387	CREBBP	HP:0000678	Dental crowding	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0000695	Natal tooth	HP:0040284	ORPHA:353281
1387	CREBBP	HP:0000695	Natal tooth	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0000689	Dental malocclusion	1/1	OMIM:180849
1387	CREBBP	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0000670	Carious teeth	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0000670	Carious teeth	-	OMIM:131300
1387	CREBBP	HP:0000670	Carious teeth	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0011304	Broad thumb	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0011304	Broad thumb	2/7	OMIM:615777
1387	CREBBP	HP:0011304	Broad thumb	17/18	OMIM:180849
1387	CREBBP	HP:0011304	Broad thumb	HP:0040281	ORPHA:353277
1387	CREBBP	HP:0000668	Hypodontia	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0000668	Hypodontia	-	OMIM:615777
1387	CREBBP	HP:0000668	Hypodontia	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:353281
1387	CREBBP	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:353277
1387	CREBBP	HP:0000664	Synophrys	-	OMIM:615777
1387	CREBBP	HP:0004322	Short stature	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0004322	Short stature	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0004322	Short stature	4/6	OMIM:180849
1387	CREBBP	HP:0004322	Short stature	HP:0040283	ORPHA:592574
1387	CREBBP	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0003083	Dislocated radial head	-	OMIM:180849
1387	CREBBP	HP:0004383	Hypoplastic left heart	1/4	OMIM:180849
1387	CREBBP	HP:0004396	Poor appetite	-	OMIM:131300
1387	CREBBP	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1387	CREBBP	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1387	CREBBP	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1387	CREBBP	HP:0003026	Short long bone	7/7	OMIM:615777
1387	CREBBP	HP:0031936	Delayed ability to walk	-	OMIM:618332
1387	CREBBP	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1387	CREBBP	HP:0400005	Short ear	6/24	OMIM:618332
1387	CREBBP	HP:0012745	Short palpebral fissure	15/24	OMIM:618332
1387	CREBBP	HP:0000756	Agoraphobia	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0000756	Agoraphobia	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0000752	Hyperactivity	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0000752	Hyperactivity	-	OMIM:180849
1387	CREBBP	HP:0000752	Hyperactivity	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0000767	Pectus excavatum	-	OMIM:180849
1387	CREBBP	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1387	CREBBP	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1387	CREBBP	HP:0012725	Cutaneous syndactyly	HP:0040283	ORPHA:592574
1387	CREBBP	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1387	CREBBP	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0000736	Short attention span	-	OMIM:180849
1387	CREBBP	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:353281
1387	CREBBP	HP:0000750	Delayed speech and language development	6/6	OMIM:180849
1387	CREBBP	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:353277
1387	CREBBP	HP:0000750	Delayed speech and language development	-	OMIM:615777
1387	CREBBP	HP:0000742	Self-mutilation	-	OMIM:180849
1387	CREBBP	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0000717	Autism	-	OMIM:180849
1387	CREBBP	HP:0000712	Emotional lability	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0000712	Emotional lability	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0000729	Autistic behavior	13/24	OMIM:618332
1387	CREBBP	HP:0000729	Autistic behavior	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0000708	Atypical behavior	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0000708	Atypical behavior	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0011461	Fetal onset	7/7	OMIM:615777
1387	CREBBP	HP:0000774	Narrow chest	2/7	OMIM:615777
1387	CREBBP	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:353277
1387	CREBBP	HP:0012760	Reduced social responsiveness	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0012760	Reduced social responsiveness	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0012762	Cerebral white matter atrophy	HP:0040284	ORPHA:592574
1387	CREBBP	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0004411	Deviated nasal septum	1/1	OMIM:180849
1387	CREBBP	HP:0003196	Short nose	12/24	OMIM:618332
1387	CREBBP	HP:0003196	Short nose	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0000926	Platyspondyly	1/7	OMIM:615777
1387	CREBBP	HP:0003180	Flat acetabular roof	-	OMIM:615777
1387	CREBBP	HP:0004482	Relative macrocephaly	-	OMIM:615777
1387	CREBBP	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1387	CREBBP	HP:0034227	Aortic isthmus hypoplasia	1/5	OMIM:180849
1387	CREBBP	HP:0000823	Delayed puberty	-	OMIM:131300
1387	CREBBP	HP:0000894	Short clavicles	-	OMIM:615777
1387	CREBBP	HP:0005895	Radial deviation of thumb terminal phalanx	-	OMIM:180849
1387	CREBBP	HP:0030890	Hyperintensity of cerebral white matter on MRI	1/5	OMIM:180849
1387	CREBBP	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1387	CREBBP	HP:0003298	Spina bifida occulta	-	OMIM:180849
1387	CREBBP	HP:0010314	Premature thelarche	-	OMIM:180849
1387	CREBBP	HP:0010302	Spinal cord tumor	HP:0040284	ORPHA:353281
1387	CREBBP	HP:0034323	Reduced circulating growth hormone concentration	HP:0040284	ORPHA:592574
1387	CREBBP	HP:0000957	Cafe-au-lait spot	-	OMIM:180849
1387	CREBBP	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1387	CREBBP	HP:0000954	Single transverse palmar crease	-	OMIM:180849
1387	CREBBP	HP:0000932	Abnormal posterior cranial fossa morphology	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0000932	Abnormal posterior cranial fossa morphology	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0008070	Sparse hair	4/24	OMIM:618332
1387	CREBBP	HP:0011682	Perimembranous ventricular septal defect	1/5	OMIM:180849
1387	CREBBP	HP:0000286	Epicanthus	5/24	OMIM:618332
1387	CREBBP	HP:0000286	Epicanthus	-	OMIM:180849
1387	CREBBP	HP:0000286	Epicanthus	1/7	OMIM:615777
1387	CREBBP	HP:0000286	Epicanthus	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0000288	Abnormality of the philtrum	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0000280	Coarse facial features	2/7	OMIM:615777
1387	CREBBP	HP:0000278	Retrognathia	-	OMIM:180849
1387	CREBBP	HP:0000293	Full cheeks	7/24	OMIM:618332
1387	CREBBP	HP:0000294	Low anterior hairline	15/17	OMIM:180849
1387	CREBBP	HP:0000260	Wide anterior fontanel	-	OMIM:180849
1387	CREBBP	HP:0000270	Delayed cranial suture closure	-	OMIM:180849
1387	CREBBP	HP:0000273	Facial grimacing	-	OMIM:180849
1387	CREBBP	HP:0000273	Facial grimacing	HP:0040281	ORPHA:353277
1387	CREBBP	HP:0002827	Hip dislocation	3/7	OMIM:615777
1387	CREBBP	HP:0000252	Microcephaly	7/9	OMIM:180849
1387	CREBBP	HP:0000252	Microcephaly	-	OMIM:615777
1387	CREBBP	HP:0000252	Microcephaly	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0000219	Thin upper lip vermilion	11/24	OMIM:618332
1387	CREBBP	HP:0000219	Thin upper lip vermilion	1/1	OMIM:180849
1387	CREBBP	HP:0000218	High palate	9/24	OMIM:618332
1387	CREBBP	HP:0000218	High palate	2/6	OMIM:180849
1387	CREBBP	HP:0000218	High palate	HP:0040281	ORPHA:353277
1387	CREBBP	HP:0001561	Polyhydramnios	-	OMIM:180849
1387	CREBBP	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0025502	Overweight	HP:0040283	ORPHA:592574
1387	CREBBP	HP:0002858	Meningioma	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0002858	Meningioma	HP:0040284	ORPHA:353281
1387	CREBBP	HP:0002857	Genu valgum	-	OMIM:131300
1387	CREBBP	HP:0002870	Obstructive sleep apnea	-	OMIM:180849
1387	CREBBP	HP:0002870	Obstructive sleep apnea	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0002870	Obstructive sleep apnea	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0002869	Flared iliac wing	-	OMIM:180849
1387	CREBBP	HP:0001537	Umbilical hernia	2/24	OMIM:618332
1387	CREBBP	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:592574
1387	CREBBP	HP:0001533	Slender build	-	OMIM:131300
1387	CREBBP	HP:0002866	Hypoplastic iliac wing	-	OMIM:180849
1387	CREBBP	HP:0001508	Failure to thrive	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0001508	Failure to thrive	4/4	OMIM:180849
1387	CREBBP	HP:0001508	Failure to thrive	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0002835	Aspiration	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0030047	Abnormal lateral ventricle morphology	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0001518	Small for gestational age	2/4	OMIM:180849
1387	CREBBP	HP:0001518	Small for gestational age	HP:0040283	ORPHA:592574
1387	CREBBP	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1387	CREBBP	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0001510	Growth delay	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0001510	Growth delay	6/6	OMIM:180849
1387	CREBBP	HP:0001513	Obesity	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0001513	Obesity	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0011087	Talon cusp	1/1	OMIM:180849
1387	CREBBP	HP:0011087	Talon cusp	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0011087	Talon cusp	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0007807	Optic nerve compression	-	OMIM:131300
1387	CREBBP	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0000387	Absent earlobe	6/24	OMIM:618332
1387	CREBBP	HP:0012368	Flat face	7/7	OMIM:615777
1387	CREBBP	HP:0012368	Flat face	9/24	OMIM:618332
1387	CREBBP	HP:0000396	Overfolded helix	9/24	OMIM:618332
1387	CREBBP	HP:0000388	Otitis media	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0000388	Otitis media	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1387	CREBBP	HP:0001601	Laryngomalacia	-	OMIM:180849
1387	CREBBP	HP:0002926	Abnormality of thyroid physiology	HP:0040284	ORPHA:592574
1387	CREBBP	HP:0000365	Hearing impairment	13/24	OMIM:618332
1387	CREBBP	HP:0000365	Hearing impairment	2/6	OMIM:180849
1387	CREBBP	HP:0000365	Hearing impairment	10/67	OMIM:131300
1387	CREBBP	HP:0000365	Hearing impairment	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0000369	Low-set ears	12/24	OMIM:618332
1387	CREBBP	HP:0000369	Low-set ears	6/6	OMIM:180849
1387	CREBBP	HP:0000369	Low-set ears	HP:0040281	ORPHA:353277
1387	CREBBP	HP:0000369	Low-set ears	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0000343	Long philtrum	12/24	OMIM:618332
1387	CREBBP	HP:0000343	Long philtrum	1/7	OMIM:615777
1387	CREBBP	HP:0011001	Increased bone mineral density	-	OMIM:131300
1387	CREBBP	HP:0002999	Patellar dislocation	-	OMIM:180849
1387	CREBBP	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:353281
1387	CREBBP	HP:0001680	Coarctation of aorta	1/5	OMIM:180849
1387	CREBBP	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0000347	Micrognathia	14/24	OMIM:618332
1387	CREBBP	HP:0000347	Micrognathia	5/7	OMIM:180849
1387	CREBBP	HP:0000347	Micrognathia	HP:0040281	ORPHA:353277
1387	CREBBP	HP:0001650	Aortic valve stenosis	HP:0040284	ORPHA:353281
1387	CREBBP	HP:0001650	Aortic valve stenosis	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0000321	Square face	10/24	OMIM:618332
1387	CREBBP	HP:0000319	Smooth philtrum	1/1	OMIM:180849
1387	CREBBP	HP:0001647	Bicuspid aortic valve	HP:0040284	ORPHA:353281
1387	CREBBP	HP:0001647	Bicuspid aortic valve	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0000316	Hypertelorism	1/1	OMIM:180849
1387	CREBBP	HP:0000316	Hypertelorism	HP:0040281	ORPHA:353277
1387	CREBBP	HP:0000316	Hypertelorism	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0001643	Patent ductus arteriosus	4/9	OMIM:180849
1387	CREBBP	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0000311	Round face	2/7	OMIM:615777
1387	CREBBP	HP:0001642	Pulmonic stenosis	HP:0040284	ORPHA:353281
1387	CREBBP	HP:0001642	Pulmonic stenosis	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0000327	Hypoplasia of the maxilla	1/1	OMIM:180849
1387	CREBBP	HP:0000322	Short philtrum	4/24	OMIM:618332
1387	CREBBP	HP:0001655	Patent foramen ovale	1/4	OMIM:180849
1387	CREBBP	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0001629	Ventricular septal defect	1/5	OMIM:180849
1387	CREBBP	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:592574
1387	CREBBP	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0002970	Genu varum	-	OMIM:615777
1387	CREBBP	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0001631	Atrial septal defect	-	OMIM:180849
1387	CREBBP	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0000303	Mandibular prognathia	-	OMIM:131300
1387	CREBBP	HP:0001634	Mitral valve prolapse	1/1	OMIM:180849
1387	CREBBP	HP:0005301	Persistent left superior vena cava	1/4	OMIM:180849
1387	CREBBP	HP:0005374	Cellular immunodeficiency	HP:0040284	ORPHA:353281
1387	CREBBP	HP:0005374	Cellular immunodeficiency	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0005363	Humoral immunodeficiency	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0005363	Humoral immunodeficiency	HP:0040284	ORPHA:353281
1387	CREBBP	HP:0005306	Capillary hemangioma	1/1	OMIM:180849
1387	CREBBP	HP:0005322	Prominent nasal septum	HP:0040281	ORPHA:353277
1387	CREBBP	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0005280	Depressed nasal bridge	13/24	OMIM:618332
1387	CREBBP	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1387	CREBBP	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0000486	Strabismus	26/48	OMIM:618332
1387	CREBBP	HP:0000486	Strabismus	2/2	OMIM:180849
1387	CREBBP	HP:0000486	Strabismus	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0000486	Strabismus	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0000494	Downslanted palpebral fissures	3/24	OMIM:618332
1387	CREBBP	HP:0000494	Downslanted palpebral fissures	8/8	OMIM:180849
1387	CREBBP	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:353277
1387	CREBBP	HP:0000490	Deeply set eye	1/24	OMIM:618332
1387	CREBBP	HP:0000490	Deeply set eye	-	OMIM:180849
1387	CREBBP	HP:0000488	Retinopathy	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0000463	Anteverted nares	11/24	OMIM:618332
1387	CREBBP	HP:0000463	Anteverted nares	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0012448	Delayed myelination	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0012450	Chronic constipation	8/24	OMIM:618332
1387	CREBBP	HP:0000457	Depressed nasal ridge	11/24	OMIM:618332
1387	CREBBP	HP:0000470	Short neck	1/7	OMIM:615777
1387	CREBBP	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1387	CREBBP	HP:0001763	Pes planus	1/7	OMIM:615777
1387	CREBBP	HP:0001763	Pes planus	-	OMIM:180849
1387	CREBBP	HP:0000448	Prominent nose	1/5	OMIM:180849
1387	CREBBP	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0000444	Convex nasal ridge	8/8	OMIM:180849
1387	CREBBP	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0000446	Narrow nasal bridge	5/21	OMIM:618332
1387	CREBBP	HP:0001747	Accessory spleen	2/4	OMIM:180849
1387	CREBBP	HP:0000411	Protruding ear	13/24	OMIM:618332
1387	CREBBP	HP:0001762	Talipes equinovarus	1/6	OMIM:180849
1387	CREBBP	HP:0000431	Wide nasal bridge	11/11	OMIM:180849
1387	CREBBP	HP:0000430	Underdeveloped nasal alae	3/24	OMIM:618332
1387	CREBBP	HP:0030434	Pilomatrixoma	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0030434	Pilomatrixoma	HP:0040284	ORPHA:353281
1387	CREBBP	HP:0005484	Secondary microcephaly	HP:0040282	ORPHA:353281
1387	CREBBP	HP:0005484	Secondary microcephaly	HP:0040281	ORPHA:353277
1387	CREBBP	HP:0000518	Cataract	2/24	OMIM:618332
1387	CREBBP	HP:0000518	Cataract	HP:0040284	ORPHA:353281
1387	CREBBP	HP:0000518	Cataract	-	OMIM:180849
1387	CREBBP	HP:0000518	Cataract	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0001845	Overlapping toe	5/24	OMIM:618332
1387	CREBBP	HP:0001840	Metatarsus adductus	-	OMIM:615777
1387	CREBBP	HP:0000527	Long eyelashes	6/6	OMIM:180849
1387	CREBBP	HP:0000527	Long eyelashes	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0000527	Long eyelashes	6/24	OMIM:618332
1387	CREBBP	HP:0001852	Sandal gap	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0001852	Sandal gap	9/24	OMIM:618332
1387	CREBBP	HP:0000520	Proptosis	2/4	OMIM:131300
1387	CREBBP	HP:0000520	Proptosis	7/7	OMIM:615777
1387	CREBBP	HP:0000520	Proptosis	-	OMIM:180849
1387	CREBBP	HP:0000506	Telecanthus	13/24	OMIM:618332
1387	CREBBP	HP:0000506	Telecanthus	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0000508	Ptosis	8/24	OMIM:618332
1387	CREBBP	HP:0000508	Ptosis	-	OMIM:180849
1387	CREBBP	HP:0000508	Ptosis	HP:0040282	ORPHA:353277
1387	CREBBP	HP:0000508	Ptosis	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0000501	Glaucoma	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0000501	Glaucoma	-	OMIM:180849
1387	CREBBP	HP:0000501	Glaucoma	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0000582	Upslanted palpebral fissure	14/24	OMIM:618332
1387	CREBBP	HP:0000581	Blepharophimosis	10/24	OMIM:618332
1387	CREBBP	HP:0011238	Prominent inferior crus of antihelix	9/24	OMIM:618332
1387	CREBBP	HP:0000579	Nasolacrimal duct obstruction	1/1	OMIM:180849
1387	CREBBP	HP:0000579	Nasolacrimal duct obstruction	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0000592	Blue sclerae	2/7	OMIM:615777
1387	CREBBP	HP:0011229	Broad eyebrow	6/6	OMIM:180849
1387	CREBBP	HP:0000589	Coloboma	-	OMIM:180849
1387	CREBBP	HP:0000589	Coloboma	HP:0040284	ORPHA:353281
1387	CREBBP	HP:0000589	Coloboma	HP:0040284	ORPHA:353277
1387	CREBBP	HP:0011220	Prominent forehead	13/24	OMIM:618332
1387	CREBBP	HP:0011220	Prominent forehead	1/1	OMIM:180849
1387	CREBBP	HP:0011220	Prominent forehead	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0000559	Corneal scarring	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0000574	Thick eyebrow	5/24	OMIM:618332
1387	CREBBP	HP:0000574	Thick eyebrow	-	OMIM:180849
1387	CREBBP	HP:0000540	Hypermetropia	8/24	OMIM:618332
1387	CREBBP	HP:0000540	Hypermetropia	HP:0040282	ORPHA:592574
1387	CREBBP	HP:0000540	Hypermetropia	HP:0040283	ORPHA:353277
1387	CREBBP	HP:0000539	Abnormality of refraction	HP:0040283	ORPHA:353281
1387	CREBBP	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1387	CREBBP	HP:0012514	Lower limb pain	4/4	OMIM:131300
1387	CREBBP	HP:0000545	Myopia	HP:0040283	ORPHA:592574
1392	CRH	HP:0025237	Confusional arousal	HP:0040283	ORPHA:98784
1392	CRH	HP:0025236	Somnambulism	HP:0040283	ORPHA:98784
1392	CRH	HP:0025235	NREM parasomnia	HP:0040284	ORPHA:98784
1392	CRH	HP:0001256	Intellectual disability, mild	HP:0040284	ORPHA:98784
1392	CRH	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:98784
1392	CRH	HP:0001345	Psychotic mentation	HP:0040284	ORPHA:98784
1392	CRH	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:98784
1392	CRH	HP:0002069	Bilateral tonic-clonic seizure	HP:0040284	ORPHA:98784
1392	CRH	HP:0002268	Paroxysmal dystonia	HP:0040282	ORPHA:98784
1392	CRH	HP:0007018	Attention deficit hyperactivity disorder	HP:0040284	ORPHA:98784
1392	CRH	HP:0031951	Nocturnal seizures	HP:0040281	ORPHA:98784
1392	CRH	HP:0004305	Involuntary movements	HP:0040282	ORPHA:98784
1392	CRH	HP:0000739	Anxiety	HP:0040283	ORPHA:98784
1392	CRH	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:98784
1392	CRH	HP:0000716	Depression	HP:0040283	ORPHA:98784
1392	CRH	HP:0000708	Atypical behavior	HP:0040284	ORPHA:98784
1392	CRH	HP:0002883	Hyperventilation	HP:0040283	ORPHA:98784
1392	CRH	HP:0031535	Increased theta frequency activity in EEG	HP:0040283	ORPHA:98784
1392	CRH	HP:0011193	EEG with focal spikes	HP:0040283	ORPHA:98784
1392	CRH	HP:0011182	Interictal epileptiform activity	HP:0040283	ORPHA:98784
1392	CRH	HP:0011174	Focal hyperkinetic seizure	HP:0040283	ORPHA:98784
1392	CRH	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:98784
1399	CRKL	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:261330
1399	CRKL	HP:0002463	Language impairment	HP:0040281	ORPHA:261330
1399	CRKL	HP:0009882	Short distal phalanx of finger	HP:0040283	ORPHA:261330
1399	CRKL	HP:0001250	Seizure	HP:0040283	ORPHA:261330
1399	CRKL	HP:0001249	Intellectual disability	HP:0040281	ORPHA:261330
1399	CRKL	HP:0001263	Global developmental delay	HP:0040281	ORPHA:261330
1399	CRKL	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:261330
1399	CRKL	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:261330
1399	CRKL	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:261330
1399	CRKL	HP:0002664	Neoplasm	HP:0040282	ORPHA:261330
1399	CRKL	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:261330
1399	CRKL	HP:0002673	Coxa valga	HP:0040283	ORPHA:261330
1399	CRKL	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:261330
1399	CRKL	HP:0000160	Narrow mouth	HP:0040283	ORPHA:261330
1399	CRKL	HP:0000175	Cleft palate	HP:0040283	ORPHA:261330
1399	CRKL	HP:0002705	High, narrow palate	HP:0040283	ORPHA:261330
1399	CRKL	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:261330
1399	CRKL	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:261330
1399	CRKL	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:261330
1399	CRKL	HP:0009465	Ulnar deviation of finger	HP:0040283	ORPHA:261330
1399	CRKL	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:261330
1399	CRKL	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:261330
1399	CRKL	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:261330
1399	CRKL	HP:0009795	Branchial fistula	HP:0040283	ORPHA:261330
1399	CRKL	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:261330
1399	CRKL	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:261330
1399	CRKL	HP:0004279	Short palm	HP:0040283	ORPHA:261330
1399	CRKL	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:261330
1399	CRKL	HP:0004322	Short stature	HP:0040281	ORPHA:261330
1399	CRKL	HP:0100033	Tics	HP:0040283	ORPHA:261330
1399	CRKL	HP:0000716	Depression	HP:0040283	ORPHA:261330
1399	CRKL	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:261330
1399	CRKL	HP:0010296	Ankyloglossia	HP:0040283	ORPHA:261330
1399	CRKL	HP:0000276	Long face	HP:0040283	ORPHA:261330
1399	CRKL	HP:0000272	Malar flattening	HP:0040283	ORPHA:261330
1399	CRKL	HP:0000252	Microcephaly	HP:0040282	ORPHA:261330
1399	CRKL	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:261330
1399	CRKL	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:261330
1399	CRKL	HP:0001510	Growth delay	HP:0040283	ORPHA:261330
1399	CRKL	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:261330
1399	CRKL	HP:0000363	Abnormal earlobe morphology	HP:0040282	ORPHA:261330
1399	CRKL	HP:0000319	Smooth philtrum	HP:0040281	ORPHA:261330
1399	CRKL	HP:0001660	Truncus arteriosus	HP:0040282	ORPHA:261330
1399	CRKL	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:261330
1399	CRKL	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:261330
1399	CRKL	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:261330
1399	CRKL	HP:0001622	Premature birth	HP:0040281	ORPHA:261330
1399	CRKL	HP:0000307	Pointed chin	HP:0040282	ORPHA:261330
1399	CRKL	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:261330
1399	CRKL	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:261330
1399	CRKL	HP:0000490	Deeply set eye	HP:0040282	ORPHA:261330
1399	CRKL	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:261330
1399	CRKL	HP:0001763	Pes planus	HP:0040282	ORPHA:261330
1399	CRKL	HP:0000453	Choanal atresia	HP:0040283	ORPHA:261330
1399	CRKL	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:261330
1399	CRKL	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:261330
1399	CRKL	HP:0001852	Sandal gap	HP:0040283	ORPHA:261330
1399	CRKL	HP:0001802	Absent toenail	HP:0040282	ORPHA:261330
1399	CRKL	HP:0001817	Absent fingernail	HP:0040282	ORPHA:261330
1399	CRKL	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:261330
1406	CRX	HP:0001133	Constriction of peripheral visual field	-	OMIM:268000
1406	CRX	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
1406	CRX	HP:0001133	Constriction of peripheral visual field	7/7	OMIM:120970
1406	CRX	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
1406	CRX	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
1406	CRX	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
1406	CRX	HP:0001270	Motor delay	HP:0040283	ORPHA:65
1406	CRX	HP:0001250	Seizure	HP:0040282	ORPHA:65
1406	CRX	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
1406	CRX	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
1406	CRX	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
1406	CRX	HP:0012043	Pendular nystagmus	-	OMIM:613829
1406	CRX	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
1406	CRX	HP:0000007	Autosomal recessive inheritance	-	OMIM:268000
1406	CRX	HP:0000007	Autosomal recessive inheritance	-	OMIM:613829
1406	CRX	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
1406	CRX	HP:0000006	Autosomal dominant inheritance	-	OMIM:268000
1406	CRX	HP:0000006	Autosomal dominant inheritance	-	OMIM:120970
1406	CRX	HP:0001483	Eye poking	HP:0040282	ORPHA:65
1406	CRX	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
1406	CRX	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
1406	CRX	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
1406	CRX	HP:0007663	Reduced visual acuity	7/7	OMIM:120970
1406	CRX	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
1406	CRX	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
1406	CRX	HP:0001419	X-linked recessive inheritance	-	OMIM:268000
1406	CRX	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
1406	CRX	HP:0003593	Infantile onset	2/2	OMIM:613829
1406	CRX	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
1406	CRX	HP:0003621	Juvenile onset	8/19	OMIM:180100
1406	CRX	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
1406	CRX	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
1406	CRX	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
1406	CRX	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
1406	CRX	HP:0000639	Nystagmus	2/2	OMIM:613829
1406	CRX	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
1406	CRX	HP:0000618	Blindness	HP:0040281	ORPHA:791
1406	CRX	HP:0000618	Blindness	-	OMIM:120970
1406	CRX	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
1406	CRX	HP:0000613	Photophobia	HP:0040282	ORPHA:65
1406	CRX	HP:0000613	Photophobia	HP:0040281	ORPHA:791
1406	CRX	HP:0000613	Photophobia	-	OMIM:613829
1406	CRX	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
1406	CRX	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
1406	CRX	HP:0000603	Central scotoma	-	OMIM:120970
1406	CRX	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
1406	CRX	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
1406	CRX	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
1406	CRX	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
1406	CRX	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
1406	CRX	HP:0000662	Nyctalopia	-	OMIM:268000
1406	CRX	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
1406	CRX	HP:0000662	Nyctalopia	26/28	OMIM:180100
1406	CRX	HP:0000662	Nyctalopia	-	OMIM:120970
1406	CRX	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
1406	CRX	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
1406	CRX	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
1406	CRX	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
1406	CRX	HP:0011463	Childhood onset	3/19	OMIM:180100
1406	CRX	HP:0011462	Young adult onset	8/19	OMIM:180100
1406	CRX	HP:0030786	Photopsia	HP:0040283	ORPHA:791
1406	CRX	HP:0011509	Macular hyperpigmentation	7/7	OMIM:120970
1406	CRX	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
1406	CRX	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
1406	CRX	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
1406	CRX	HP:0007722	Retinal pigment epithelial atrophy	1/1	OMIM:120970
1406	CRX	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
1406	CRX	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
1406	CRX	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
1406	CRX	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
1406	CRX	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
1406	CRX	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
1406	CRX	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
1406	CRX	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:120970
1406	CRX	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
1406	CRX	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
1406	CRX	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
1406	CRX	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
1406	CRX	HP:0031605	Abnormality of fundus pigmentation	-	OMIM:268000
1406	CRX	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
1406	CRX	HP:0007994	Peripheral visual field loss	-	OMIM:120970
1406	CRX	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
1406	CRX	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
1406	CRX	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
1406	CRX	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
1406	CRX	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
1406	CRX	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
1406	CRX	HP:0012508	Metamorphopsia	1/1	OMIM:120970
1406	CRX	HP:0000518	Cataract	-	OMIM:613829
1406	CRX	HP:0000518	Cataract	HP:0040282	ORPHA:65
1406	CRX	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
1406	CRX	HP:0000510	Rod-cone dystrophy	20/20	OMIM:268000
1406	CRX	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
1406	CRX	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
1406	CRX	HP:0000512	Abnormal electroretinogram	-	OMIM:120970
1406	CRX	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
1406	CRX	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
1406	CRX	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
1406	CRX	HP:0000505	Visual impairment	2/2	OMIM:613829
1406	CRX	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
1406	CRX	HP:0000575	Scotoma	5/18	OMIM:180100
1406	CRX	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
1406	CRX	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
1406	CRX	HP:0000563	Keratoconus	-	OMIM:613829
1406	CRX	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
1406	CRX	HP:0000533	Chorioretinal atrophy	-	OMIM:120970
1406	CRX	HP:0000550	Undetectable electroretinogram	2/2	OMIM:613829
1406	CRX	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
1406	CRX	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
1406	CRX	HP:0000551	Color vision defect	7/7	OMIM:120970
1406	CRX	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
1406	CRX	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:120970
1406	CRX	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
1406	CRX	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
1406	CRX	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
1406	CRX	HP:0000543	Optic disc pallor	1/1	OMIM:180100
1406	CRX	HP:0000545	Myopia	-	OMIM:180100
1407	CRY1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614163
1407	CRY1	HP:0031354	Sleep onset insomnia	-	OMIM:614163
1409	CRYAA	HP:0001131	Corneal dystrophy	HP:0040283	ORPHA:1377
1409	CRYAA	HP:0000007	Autosomal recessive inheritance	-	OMIM:604219
1409	CRYAA	HP:0000006	Autosomal dominant inheritance	-	OMIM:604219
1409	CRYAA	HP:0000639	Nystagmus	-	OMIM:604219
1409	CRYAA	HP:0000639	Nystagmus	HP:0040283	ORPHA:1377
1409	CRYAA	HP:0000646	Amblyopia	-	OMIM:604219
1409	CRYAA	HP:0000612	Iris coloboma	HP:0040283	OMIM:604219
1409	CRYAA	HP:0000612	Iris coloboma	HP:0040283	ORPHA:1377
1409	CRYAA	HP:0007834	Progressive cataract	HP:0040283	OMIM:604219
1409	CRYAA	HP:0007957	Corneal opacity	HP:0040283	ORPHA:1377
1409	CRYAA	HP:0000486	Strabismus	-	OMIM:604219
1409	CRYAA	HP:0000482	Microcornea	HP:0040283	OMIM:604219
1409	CRYAA	HP:0000482	Microcornea	HP:0040281	ORPHA:1377
1409	CRYAA	HP:0000518	Cataract	-	OMIM:604219
1409	CRYAA	HP:0000518	Cataract	HP:0040281	ORPHA:1377
1409	CRYAA	HP:0000519	Developmental cataract	-	OMIM:604219
1409	CRYAA	HP:0000505	Visual impairment	-	OMIM:604219
1409	CRYAA	HP:0000501	Glaucoma	-	OMIM:604219
1409	CRYAA	HP:0000568	Microphthalmia	HP:0040283	OMIM:604219
1409	CRYAA	HP:0000545	Myopia	HP:0040282	ORPHA:1377
1410	CRYAB	HP:0001142	Lenticonus	0/16	OMIM:613763
1410	CRYAB	HP:0001115	Posterior polar cataract	16/16	OMIM:613763
1410	CRYAB	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
1410	CRYAB	HP:0003736	Autophagic vacuoles	HP:0040282	ORPHA:399058
1410	CRYAB	HP:0001276	Hypertonia	7/8	OMIM:613869
1410	CRYAB	HP:0001288	Gait disturbance	HP:0040283	ORPHA:399058
1410	CRYAB	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:399058
1410	CRYAB	HP:0001349	Facial diplegia	HP:0040283	ORPHA:399058
1410	CRYAB	HP:0000007	Autosomal recessive inheritance	-	OMIM:613869
1410	CRYAB	HP:0000007	Autosomal recessive inheritance	-	OMIM:613763
1410	CRYAB	HP:0000006	Autosomal dominant inheritance	-	OMIM:615184
1410	CRYAB	HP:0000006	Autosomal dominant inheritance	-	OMIM:613763
1410	CRYAB	HP:0033755	Increased left ventricular end-diastolic volume	1/1	OMIM:615184
1410	CRYAB	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:399058
1410	CRYAB	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:399058
1410	CRYAB	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:399058
1410	CRYAB	HP:0002015	Dysphagia	HP:0040281	ORPHA:399058
1410	CRYAB	HP:0002093	Respiratory insufficiency	8/8	OMIM:613869
1410	CRYAB	HP:0002063	Rigidity	-	OMIM:613869
1410	CRYAB	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
1410	CRYAB	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
1410	CRYAB	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:399058
1410	CRYAB	HP:0004756	Ventricular tachycardia	1/1	OMIM:615184
1410	CRYAB	HP:0002104	Apnea	1/8	OMIM:613869
1410	CRYAB	HP:0003596	Middle age onset	2/2	OMIM:615184
1410	CRYAB	HP:0003593	Infantile onset	7/8	OMIM:613869
1410	CRYAB	HP:0003577	Congenital onset	16/16	OMIM:613763
1410	CRYAB	HP:0003552	Muscle stiffness	HP:0040283	ORPHA:399058
1410	CRYAB	HP:0003560	Muscular dystrophy	-	OMIM:613869
1410	CRYAB	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:399058
1410	CRYAB	HP:0003678	Rapidly progressive	-	OMIM:613869
1410	CRYAB	HP:0003623	Neonatal onset	1/8	OMIM:613869
1410	CRYAB	HP:0009073	Progressive proximal muscle weakness	HP:0040283	ORPHA:399058
1410	CRYAB	HP:0009063	Progressive distal muscle weakness	HP:0040281	ORPHA:399058
1410	CRYAB	HP:0012665	Moderately reduced left ventricular ejection fraction	1/1	OMIM:615184
1410	CRYAB	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:399058
1410	CRYAB	HP:0100020	Posterior capsular cataract	HP:0040282	ORPHA:399058
1410	CRYAB	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
1410	CRYAB	HP:0003198	Myopathy	HP:0040283	ORPHA:154
1410	CRYAB	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040282	ORPHA:399058
1410	CRYAB	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:615184
1410	CRYAB	HP:0003236	Elevated circulating creatine kinase concentration	4/4	OMIM:613869
1410	CRYAB	HP:0000969	Edema	HP:0040282	ORPHA:154
1410	CRYAB	HP:0100299	Muscle fiber inclusion bodies	HP:0040282	ORPHA:399058
1410	CRYAB	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
1410	CRYAB	HP:0002878	Respiratory failure	-	OMIM:613869
1410	CRYAB	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
1410	CRYAB	HP:0001522	Death in infancy	7/8	OMIM:613869
1410	CRYAB	HP:0012378	Fatigue	HP:0040282	ORPHA:154
1410	CRYAB	HP:0001618	Dysphonia	HP:0040281	ORPHA:399058
1410	CRYAB	HP:0001612	Weak cry	-	OMIM:613869
1410	CRYAB	HP:0011003	High myopia	0/16	OMIM:613763
1410	CRYAB	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
1410	CRYAB	HP:0001644	Dilated cardiomyopathy	2/2	OMIM:615184
1410	CRYAB	HP:0001653	Mitral regurgitation	1/1	OMIM:615184
1410	CRYAB	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
1410	CRYAB	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:399058
1410	CRYAB	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
1410	CRYAB	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
1410	CRYAB	HP:0030225	Accumulation of muscle fiber desmin	HP:0040282	ORPHA:399058
1410	CRYAB	HP:0000467	Neck muscle weakness	HP:0040282	ORPHA:399058
1410	CRYAB	HP:0000518	Cataract	0/1	OMIM:615184
1410	CRYAB	HP:0000519	Developmental cataract	HP:0040283	OMIM:613763
1410	CRYAB	HP:0000556	Retinal dystrophy	HP:0040283	OMIM:613763
1411	CRYBA1	HP:0010920	Zonular cataract	-	OMIM:600881
1411	CRYBA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:600881
1411	CRYBA1	HP:0003577	Congenital onset	11/11	OMIM:600881
1411	CRYBA1	HP:0100018	Nuclear cataract	11/11	OMIM:600881
1411	CRYBA1	HP:0008031	Posterior Y-sutural cataract	-	OMIM:600881
1411	CRYBA1	HP:0000519	Developmental cataract	-	OMIM:600881
1412	CRYBA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115900
1412	CRYBA2	HP:0003577	Congenital onset	9/10	OMIM:115900
1412	CRYBA2	HP:0011462	Young adult onset	1/10	OMIM:115900
1412	CRYBA2	HP:0000518	Cataract	10/10	OMIM:115900
1412	CRYBA2	HP:0000519	Developmental cataract	-	OMIM:115900
1412	CRYBA2	HP:0000501	Glaucoma	HP:0040283	OMIM:115900
1412	CRYBA2	HP:0000545	Myopia	HP:0040283	OMIM:115900
1413	CRYBA4	HP:0001131	Corneal dystrophy	HP:0040283	ORPHA:1377
1413	CRYBA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:610425
1413	CRYBA4	HP:0000639	Nystagmus	HP:0040283	ORPHA:1377
1413	CRYBA4	HP:0000612	Iris coloboma	HP:0040283	ORPHA:1377
1413	CRYBA4	HP:0100018	Nuclear cataract	2/2	OMIM:610425
1413	CRYBA4	HP:0007957	Corneal opacity	HP:0040283	ORPHA:1377
1413	CRYBA4	HP:0007971	Lamellar cataract	-	OMIM:610425
1413	CRYBA4	HP:0000482	Microcornea	2/2	OMIM:610425
1413	CRYBA4	HP:0000482	Microcornea	HP:0040281	ORPHA:1377
1413	CRYBA4	HP:0000518	Cataract	HP:0040281	ORPHA:1377
1413	CRYBA4	HP:0000545	Myopia	HP:0040282	ORPHA:1377
1414	CRYBB1	HP:0001131	Corneal dystrophy	HP:0040283	ORPHA:1377
1414	CRYBB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:611544
1414	CRYBB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:611544
1414	CRYBB1	HP:0007663	Reduced visual acuity	-	OMIM:611544
1414	CRYBB1	HP:0003577	Congenital onset	8/8	OMIM:611544
1414	CRYBB1	HP:0010693	Pulverulent cataract	8/8	OMIM:611544
1414	CRYBB1	HP:0000639	Nystagmus	-	OMIM:611544
1414	CRYBB1	HP:0000639	Nystagmus	HP:0040283	ORPHA:1377
1414	CRYBB1	HP:0000646	Amblyopia	HP:0040283	OMIM:611544
1414	CRYBB1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:1377
1414	CRYBB1	HP:0100018	Nuclear cataract	-	OMIM:611544
1414	CRYBB1	HP:0007957	Corneal opacity	HP:0040283	ORPHA:1377
1414	CRYBB1	HP:0000482	Microcornea	HP:0040281	ORPHA:1377
1414	CRYBB1	HP:0000482	Microcornea	HP:0040283	OMIM:611544
1414	CRYBB1	HP:0000518	Cataract	HP:0040281	ORPHA:1377
1414	CRYBB1	HP:0000519	Developmental cataract	-	OMIM:611544
1414	CRYBB1	HP:0000545	Myopia	HP:0040282	ORPHA:1377
1415	CRYBB2	HP:0001131	Corneal dystrophy	HP:0040283	ORPHA:1377
1415	CRYBB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:601547
1415	CRYBB2	HP:0010698	Nuclear pulverulent cataract	-	OMIM:601547
1415	CRYBB2	HP:0010695	Sutural cataract	-	OMIM:601547
1415	CRYBB2	HP:0000639	Nystagmus	HP:0040283	ORPHA:1377
1415	CRYBB2	HP:0000612	Iris coloboma	HP:0040283	ORPHA:1377
1415	CRYBB2	HP:0007957	Corneal opacity	HP:0040283	ORPHA:1377
1415	CRYBB2	HP:0007976	Cerulean cataract	HP:0040280	OMIM:601547
1415	CRYBB2	HP:0000482	Microcornea	HP:0040281	ORPHA:1377
1415	CRYBB2	HP:0000518	Cataract	HP:0040281	ORPHA:1377
1415	CRYBB2	HP:0000519	Developmental cataract	-	OMIM:601547
1415	CRYBB2	HP:0000545	Myopia	HP:0040282	ORPHA:1377
1417	CRYBB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:609741
1417	CRYBB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:609741
1417	CRYBB3	HP:0003577	Congenital onset	6/6	OMIM:609741
1417	CRYBB3	HP:0100018	Nuclear cataract	6/6	OMIM:609741
1417	CRYBB3	HP:0000519	Developmental cataract	-	OMIM:609741
1417	CRYBB3	HP:0000501	Glaucoma	HP:0040283	OMIM:609741
1419	CRYGB	HP:0001134	Anterior polar cataract	2/7	OMIM:615188
1419	CRYGB	HP:0000006	Autosomal dominant inheritance	-	OMIM:615188
1419	CRYGB	HP:0003577	Congenital onset	7/7	OMIM:615188
1419	CRYGB	HP:0007971	Lamellar cataract	4/7	OMIM:615188
1419	CRYGB	HP:0000519	Developmental cataract	7/7	OMIM:615188
1420	CRYGC	HP:0001131	Corneal dystrophy	HP:0040283	ORPHA:1377
1420	CRYGC	HP:0010926	Aculeiform cataract	-	OMIM:604307
1420	CRYGC	HP:0000006	Autosomal dominant inheritance	-	OMIM:604307
1420	CRYGC	HP:0010698	Nuclear pulverulent cataract	-	OMIM:604307
1420	CRYGC	HP:0000639	Nystagmus	-	OMIM:604307
1420	CRYGC	HP:0000639	Nystagmus	HP:0040283	ORPHA:1377
1420	CRYGC	HP:0000646	Amblyopia	-	OMIM:604307
1420	CRYGC	HP:0000613	Photophobia	HP:0040283	OMIM:604307
1420	CRYGC	HP:0000612	Iris coloboma	HP:0040283	ORPHA:1377
1420	CRYGC	HP:0100018	Nuclear cataract	-	OMIM:604307
1420	CRYGC	HP:0007957	Corneal opacity	HP:0040283	ORPHA:1377
1420	CRYGC	HP:0000482	Microcornea	HP:0040283	OMIM:604307
1420	CRYGC	HP:0000482	Microcornea	HP:0040281	ORPHA:1377
1420	CRYGC	HP:0000518	Cataract	HP:0040281	ORPHA:1377
1420	CRYGC	HP:0000519	Developmental cataract	-	OMIM:604307
1420	CRYGC	HP:0000505	Visual impairment	-	OMIM:604307
1420	CRYGC	HP:0000545	Myopia	HP:0040282	ORPHA:1377
1421	CRYGD	HP:0001131	Corneal dystrophy	HP:0040283	ORPHA:1377
1421	CRYGD	HP:0000006	Autosomal dominant inheritance	-	OMIM:115700
1421	CRYGD	HP:0000639	Nystagmus	HP:0040283	ORPHA:1377
1421	CRYGD	HP:0000612	Iris coloboma	HP:0040283	ORPHA:1377
1421	CRYGD	HP:0007957	Corneal opacity	HP:0040283	ORPHA:1377
1421	CRYGD	HP:0000482	Microcornea	HP:0040281	ORPHA:1377
1421	CRYGD	HP:0000518	Cataract	HP:0040281	ORPHA:1377
1421	CRYGD	HP:0000519	Developmental cataract	-	OMIM:115700
1421	CRYGD	HP:0000545	Myopia	HP:0040282	ORPHA:1377
1427	CRYGS	HP:0000006	Autosomal dominant inheritance	-	OMIM:116100
1427	CRYGS	HP:0010695	Sutural cataract	4/4	OMIM:116100
1427	CRYGS	HP:0003621	Juvenile onset	18/18	OMIM:116100
1427	CRYGS	HP:0100018	Nuclear cataract	7/7	OMIM:116100
1427	CRYGS	HP:0100019	Cortical cataract	14/14	OMIM:116100
1427	CRYGS	HP:0007971	Lamellar cataract	4/4	OMIM:116100
1428	CRYM	HP:0001249	Intellectual disability	0/3	OMIM:616357
1428	CRYM	HP:0000006	Autosomal dominant inheritance	-	OMIM:616357
1428	CRYM	HP:0011463	Childhood onset	3/3	OMIM:616357
1428	CRYM	HP:0000407	Sensorineural hearing impairment	3/3	OMIM:616357
1428	CRYM	HP:0001751	Abnormal vestibular function	0/3	OMIM:616357
1436	CSF1R	HP:0002465	Poor speech	-	OMIM:618476
1436	CSF1R	HP:0007305	CNS demyelination	-	OMIM:221820
1436	CSF1R	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1436	CSF1R	HP:0001293	Cranial nerve compression	-	OMIM:131300
1436	CSF1R	HP:0001274	Agenesis of corpus callosum	1/4	OMIM:618476
1436	CSF1R	HP:0001268	Mental deterioration	-	OMIM:618476
1436	CSF1R	HP:0001268	Mental deterioration	-	OMIM:221820
1436	CSF1R	HP:0001288	Gait disturbance	3/3	OMIM:221820
1436	CSF1R	HP:0001288	Gait disturbance	1/4	OMIM:618476
1436	CSF1R	HP:0001250	Seizure	3/3	OMIM:221820
1436	CSF1R	HP:0001250	Seizure	-	OMIM:618476
1436	CSF1R	HP:0001252	Hypotonia	2/7	OMIM:615777
1436	CSF1R	HP:0001251	Ataxia	-	OMIM:618476
1436	CSF1R	HP:0001249	Intellectual disability	1/4	OMIM:618476
1436	CSF1R	HP:0001249	Intellectual disability	5/7	OMIM:615777
1436	CSF1R	HP:0001260	Dysarthria	3/3	OMIM:221820
1436	CSF1R	HP:0001260	Dysarthria	-	OMIM:618476
1436	CSF1R	HP:0001263	Global developmental delay	1/4	OMIM:618476
1436	CSF1R	HP:0001263	Global developmental delay	-	OMIM:615777
1436	CSF1R	HP:0001257	Spasticity	-	OMIM:221820
1436	CSF1R	HP:0001257	Spasticity	3/4	OMIM:618476
1436	CSF1R	HP:0008765	Auditory hallucination	1/3	OMIM:221820
1436	CSF1R	HP:0100861	Sclerotic vertebral body	2/4	OMIM:618476
1436	CSF1R	HP:0007371	Corpus callosum atrophy	3/3	OMIM:221820
1436	CSF1R	HP:0007359	Focal-onset seizure	2/4	OMIM:618476
1436	CSF1R	HP:0002515	Waddling gait	54/102	OMIM:131300
1436	CSF1R	HP:0002514	Cerebral calcification	4/4	OMIM:618476
1436	CSF1R	HP:0002529	Neuronal loss in central nervous system	-	OMIM:221820
1436	CSF1R	HP:0002510	Spastic tetraplegia	-	OMIM:618476
1436	CSF1R	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:221820
1436	CSF1R	HP:0001382	Joint hypermobility	-	OMIM:615777
1436	CSF1R	HP:0001347	Hyperreflexia	-	OMIM:221820
1436	CSF1R	HP:0001347	Hyperreflexia	1/4	OMIM:618476
1436	CSF1R	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1436	CSF1R	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1436	CSF1R	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1436	CSF1R	HP:0001324	Muscle weakness	40/96	OMIM:131300
1436	CSF1R	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1436	CSF1R	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1436	CSF1R	HP:0000007	Autosomal recessive inheritance	-	OMIM:618476
1436	CSF1R	HP:0000006	Autosomal dominant inheritance	-	OMIM:221820
1436	CSF1R	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1436	CSF1R	HP:0001305	Dandy-Walker malformation	1/4	OMIM:618476
1436	CSF1R	HP:0002650	Scoliosis	12/14	OMIM:131300
1436	CSF1R	HP:0001321	Cerebellar hypoplasia	-	OMIM:618476
1436	CSF1R	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1436	CSF1R	HP:0001300	Parkinsonism	3/3	OMIM:221820
1436	CSF1R	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1436	CSF1R	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1436	CSF1R	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1436	CSF1R	HP:0000175	Cleft palate	2/7	OMIM:615777
1436	CSF1R	HP:0002015	Dysphagia	3/3	OMIM:221820
1436	CSF1R	HP:0100543	Cognitive impairment	1/4	OMIM:618476
1436	CSF1R	HP:0002067	Bradykinesia	-	OMIM:221820
1436	CSF1R	HP:0002063	Rigidity	1/4	OMIM:618476
1436	CSF1R	HP:0002063	Rigidity	-	OMIM:221820
1436	CSF1R	HP:0003388	Easy fatigability	36/76	OMIM:131300
1436	CSF1R	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1436	CSF1R	HP:0003474	Somatic sensory dysfunction	1/3	OMIM:221820
1436	CSF1R	HP:0002119	Ventriculomegaly	4/4	OMIM:618476
1436	CSF1R	HP:0002186	Apraxia	-	OMIM:221820
1436	CSF1R	HP:0002180	Neurodegeneration	-	OMIM:618476
1436	CSF1R	HP:0002171	Gliosis	-	OMIM:221820
1436	CSF1R	HP:0002172	Postural instability	-	OMIM:221820
1436	CSF1R	HP:0003596	Middle age onset	1/3	OMIM:221820
1436	CSF1R	HP:0003577	Congenital onset	-	OMIM:618476
1436	CSF1R	HP:0003581	Adult onset	-	OMIM:221820
1436	CSF1R	HP:0002283	Global brain atrophy	3/3	OMIM:221820
1436	CSF1R	HP:0002280	Enlarged cisterna magna	2/4	OMIM:618476
1436	CSF1R	HP:0003510	Severe short stature	7/7	OMIM:615777
1436	CSF1R	HP:0007099	Chiari type I malformation	1/4	OMIM:618476
1436	CSF1R	HP:0002362	Shuffling gait	-	OMIM:221820
1436	CSF1R	HP:0003676	Progressive	-	OMIM:618476
1436	CSF1R	HP:0002354	Memory impairment	3/3	OMIM:221820
1436	CSF1R	HP:0002352	Leukoencephalopathy	-	OMIM:221820
1436	CSF1R	HP:0003678	Rapidly progressive	-	OMIM:221820
1436	CSF1R	HP:0002315	Headache	-	OMIM:131300
1436	CSF1R	HP:0004976	Knee dislocation	6/7	OMIM:615777
1436	CSF1R	HP:0004975	Erlenmeyer flask deformity of the femurs	1/4	OMIM:618476
1436	CSF1R	HP:0010804	Tented upper lip vermilion	1/4	OMIM:618476
1436	CSF1R	HP:0009803	Short phalanx of finger	-	OMIM:615777
1436	CSF1R	HP:0007165	Periventricular heterotopia	-	OMIM:618476
1436	CSF1R	HP:0009763	Limb pain	63/92	OMIM:131300
1436	CSF1R	HP:0002300	Mutism	-	OMIM:618476
1436	CSF1R	HP:0002300	Mutism	-	OMIM:221820
1436	CSF1R	HP:0003621	Juvenile onset	-	OMIM:618476
1436	CSF1R	HP:0003621	Juvenile onset	-	OMIM:131300
1436	CSF1R	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1436	CSF1R	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1436	CSF1R	HP:0000639	Nystagmus	1/4	OMIM:618476
1436	CSF1R	HP:6001056	Out-toeing	-	OMIM:131300
1436	CSF1R	HP:0000651	Diplopia	-	OMIM:131300
1436	CSF1R	HP:0000648	Optic atrophy	1/4	OMIM:618476
1436	CSF1R	HP:0001956	Truncal obesity	2/7	OMIM:615777
1436	CSF1R	HP:0001903	Anemia	HP:0040283	OMIM:131300
1436	CSF1R	HP:0010049	Short metacarpal	-	OMIM:615777
1436	CSF1R	HP:0000678	Dental crowding	-	OMIM:615777
1436	CSF1R	HP:0000670	Carious teeth	-	OMIM:131300
1436	CSF1R	HP:0011304	Broad thumb	2/7	OMIM:615777
1436	CSF1R	HP:0000668	Hypodontia	-	OMIM:615777
1436	CSF1R	HP:0000664	Synophrys	-	OMIM:615777
1436	CSF1R	HP:0004330	Increased skull ossification	4/4	OMIM:618476
1436	CSF1R	HP:0004396	Poor appetite	-	OMIM:131300
1436	CSF1R	HP:0003034	Diaphyseal sclerosis	4/4	OMIM:618476
1436	CSF1R	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1436	CSF1R	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1436	CSF1R	HP:0003016	Metaphyseal widening	4/4	OMIM:618476
1436	CSF1R	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1436	CSF1R	HP:0003026	Short long bone	7/7	OMIM:615777
1436	CSF1R	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1436	CSF1R	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1436	CSF1R	HP:0000768	Pectus carinatum	1/4	OMIM:618476
1436	CSF1R	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1436	CSF1R	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1436	CSF1R	HP:0000750	Delayed speech and language development	-	OMIM:615777
1436	CSF1R	HP:0000748	Inappropriate laughter	1/4	OMIM:618476
1436	CSF1R	HP:0000746	Delusion	1/3	OMIM:221820
1436	CSF1R	HP:0000716	Depression	-	OMIM:221820
1436	CSF1R	HP:0000727	Frontal lobe dementia	-	OMIM:221820
1436	CSF1R	HP:0000708	Atypical behavior	-	OMIM:221820
1436	CSF1R	HP:0011463	Childhood onset	-	OMIM:618476
1436	CSF1R	HP:0011461	Fetal onset	7/7	OMIM:615777
1436	CSF1R	HP:0000774	Narrow chest	2/7	OMIM:615777
1436	CSF1R	HP:0000926	Platyspondyly	4/4	OMIM:618476
1436	CSF1R	HP:0000926	Platyspondyly	1/7	OMIM:615777
1436	CSF1R	HP:0003180	Flat acetabular roof	-	OMIM:615777
1436	CSF1R	HP:0004482	Relative macrocephaly	-	OMIM:615777
1436	CSF1R	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1436	CSF1R	HP:0000823	Delayed puberty	-	OMIM:131300
1436	CSF1R	HP:0000894	Short clavicles	-	OMIM:615777
1436	CSF1R	HP:0030890	Hyperintensity of cerebral white matter on MRI	2/4	OMIM:618476
1436	CSF1R	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1436	CSF1R	HP:0034381	Central nervous system axonal spheroid	-	OMIM:221820
1436	CSF1R	HP:0033051	Impaired executive functioning	3/3	OMIM:221820
1436	CSF1R	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1436	CSF1R	HP:0000286	Epicanthus	1/4	OMIM:618476
1436	CSF1R	HP:0000286	Epicanthus	1/7	OMIM:615777
1436	CSF1R	HP:0000280	Coarse facial features	2/7	OMIM:615777
1436	CSF1R	HP:0001591	Bell-shaped thorax	1/4	OMIM:618476
1436	CSF1R	HP:0000256	Macrocephaly	-	OMIM:618476
1436	CSF1R	HP:0002827	Hip dislocation	3/7	OMIM:615777
1436	CSF1R	HP:0002808	Kyphosis	1/4	OMIM:618476
1436	CSF1R	HP:0000238	Hydrocephalus	2/4	OMIM:618476
1436	CSF1R	HP:0000252	Microcephaly	-	OMIM:615777
1436	CSF1R	HP:0002857	Genu valgum	-	OMIM:131300
1436	CSF1R	HP:0001533	Slender build	-	OMIM:131300
1436	CSF1R	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1436	CSF1R	HP:0007807	Optic nerve compression	-	OMIM:131300
1436	CSF1R	HP:0012368	Flat face	7/7	OMIM:615777
1436	CSF1R	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1436	CSF1R	HP:0002901	Hypocalcemia	HP:0040284	OMIM:618476
1436	CSF1R	HP:0000365	Hearing impairment	10/67	OMIM:131300
1436	CSF1R	HP:0000343	Long philtrum	1/7	OMIM:615777
1436	CSF1R	HP:0011002	Osteopetrosis	1/4	OMIM:618476
1436	CSF1R	HP:0011001	Increased bone mineral density	-	OMIM:131300
1436	CSF1R	HP:0000311	Round face	2/7	OMIM:615777
1436	CSF1R	HP:0002970	Genu varum	-	OMIM:615777
1436	CSF1R	HP:0000303	Mandibular prognathia	-	OMIM:131300
1436	CSF1R	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1436	CSF1R	HP:0000470	Short neck	1/7	OMIM:615777
1436	CSF1R	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1436	CSF1R	HP:0001763	Pes planus	1/7	OMIM:615777
1436	CSF1R	HP:0000414	Bulbous nose	1/4	OMIM:618476
1436	CSF1R	HP:0025710	Late young adult onset	2/3	OMIM:221820
1436	CSF1R	HP:0005464	Craniofacial osteosclerosis	2/4	OMIM:618476
1436	CSF1R	HP:0001840	Metatarsus adductus	-	OMIM:615777
1436	CSF1R	HP:0000527	Long eyelashes	1/4	OMIM:618476
1436	CSF1R	HP:0000520	Proptosis	2/4	OMIM:131300
1436	CSF1R	HP:0000520	Proptosis	7/7	OMIM:615777
1436	CSF1R	HP:0000505	Visual impairment	1/4	OMIM:618476
1436	CSF1R	HP:0000592	Blue sclerae	2/7	OMIM:615777
1436	CSF1R	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1436	CSF1R	HP:0012514	Lower limb pain	4/4	OMIM:131300
1438	CSF2RA	HP:0025179	Ground-glass opacification	2/2	OMIM:300770
1438	CSF2RA	HP:0010876	Abnormal circulating protein concentration	HP:0040281	ORPHA:264675
1438	CSF2RA	HP:0031029	Elevated circulating carcinoembryonic antigen concentration	HP:0040283	ORPHA:264675
1438	CSF2RA	HP:0032341	Reduced forced vital capacity	1/2	OMIM:300770
1438	CSF2RA	HP:0032342	Reduced forced expiratory volume in one second	1/2	OMIM:300770
1438	CSF2RA	HP:0025391	Crazy paving pattern	HP:0040282	ORPHA:264675
1438	CSF2RA	HP:0002789	Tachypnea	-	OMIM:300770
1438	CSF2RA	HP:0002789	Tachypnea	HP:0040283	ORPHA:264675
1438	CSF2RA	HP:0001417	X-linked inheritance	-	OMIM:300770
1438	CSF2RA	HP:0002098	Respiratory distress	HP:0040282	ORPHA:264675
1438	CSF2RA	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:264675
1438	CSF2RA	HP:0002091	Restrictive ventilatory defect	-	OMIM:300770
1438	CSF2RA	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040282	ORPHA:264675
1438	CSF2RA	HP:0011949	Acute infectious pneumonia	HP:0040283	ORPHA:264675
1438	CSF2RA	HP:0003651	Foam cells	HP:0040283	ORPHA:264675
1438	CSF2RA	HP:0012735	Cough	HP:0040283	ORPHA:264675
1438	CSF2RA	HP:0045051	Decreased DLCO	1/1	OMIM:300770
1438	CSF2RA	HP:0030830	Crackles	HP:0040283	ORPHA:264675
1438	CSF2RA	HP:0030057	Autoimmune antibody positivity	HP:0040283	ORPHA:264675
1438	CSF2RA	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:264675
1438	CSF2RA	HP:0001508	Failure to thrive	2/2	OMIM:300770
1438	CSF2RA	HP:0006517	Intraalveolar phospholipid accumulation	-	OMIM:300770
1438	CSF2RA	HP:0001649	Tachycardia	HP:0040283	ORPHA:264675
1438	CSF2RA	HP:0012418	Hypoxemia	HP:0040282	ORPHA:264675
1439	CSF2RB	HP:0025179	Ground-glass opacification	1/1	OMIM:614370
1439	CSF2RB	HP:0010876	Abnormal circulating protein concentration	HP:0040281	ORPHA:264675
1439	CSF2RB	HP:0031029	Elevated circulating carcinoembryonic antigen concentration	HP:0040283	ORPHA:264675
1439	CSF2RB	HP:0025391	Crazy paving pattern	HP:0040282	ORPHA:264675
1439	CSF2RB	HP:0000007	Autosomal recessive inheritance	-	OMIM:614370
1439	CSF2RB	HP:0002789	Tachypnea	HP:0040283	ORPHA:264675
1439	CSF2RB	HP:0002098	Respiratory distress	HP:0040282	ORPHA:264675
1439	CSF2RB	HP:0002094	Dyspnea	1/1	OMIM:614370
1439	CSF2RB	HP:0002093	Respiratory insufficiency	-	OMIM:614370
1439	CSF2RB	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:264675
1439	CSF2RB	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040282	ORPHA:264675
1439	CSF2RB	HP:0011949	Acute infectious pneumonia	HP:0040283	ORPHA:264675
1439	CSF2RB	HP:0020050	Anti-granulocyte-macrophage colony stimulating factor antibody positivity	0/1	OMIM:614370
1439	CSF2RB	HP:0003651	Foam cells	HP:0040283	ORPHA:264675
1439	CSF2RB	HP:0012735	Cough	HP:0040283	ORPHA:264675
1439	CSF2RB	HP:0030879	Interlobular septal thickening	1/1	OMIM:614370
1439	CSF2RB	HP:0030830	Crackles	HP:0040283	ORPHA:264675
1439	CSF2RB	HP:0030057	Autoimmune antibody positivity	HP:0040283	ORPHA:264675
1439	CSF2RB	HP:0002875	Exertional dyspnea	1/1	OMIM:614370
1439	CSF2RB	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:264675
1439	CSF2RB	HP:0006517	Intraalveolar phospholipid accumulation	1/1	OMIM:614370
1439	CSF2RB	HP:0001649	Tachycardia	HP:0040283	ORPHA:264675
1439	CSF2RB	HP:0012418	Hypoxemia	HP:0040282	ORPHA:264675
1441	CSF3R	HP:0033606	Bone marrow maturation arrest	0/3	OMIM:617014
1441	CSF3R	HP:0000007	Autosomal recessive inheritance	-	OMIM:617014
1441	CSF3R	HP:0000006	Autosomal dominant inheritance	-	OMIM:162830
1441	CSF3R	HP:0012138	Granulocytic hyperplasia	-	OMIM:162830
1441	CSF3R	HP:0002719	Recurrent infections	4/4	OMIM:617014
1441	CSF3R	HP:0011897	Increased total neutrophil count	12/12	OMIM:162830
1441	CSF3R	HP:0003593	Infantile onset	1/4	OMIM:617014
1441	CSF3R	HP:0008318	Elevated leukocyte alkaline phosphatase	-	OMIM:162830
1441	CSF3R	HP:0003623	Neonatal onset	2/4	OMIM:617014
1441	CSF3R	HP:0011463	Childhood onset	1/4	OMIM:617014
1441	CSF3R	HP:0002863	Myelodysplasia	1/12	OMIM:162830
1441	CSF3R	HP:0001744	Splenomegaly	12/12	OMIM:162830
1441	CSF3R	HP:0001875	Decreased total neutrophil count	4/4	OMIM:617014
1453	CSNK1D	HP:0000006	Autosomal dominant inheritance	-	OMIM:615224
1453	CSNK1D	HP:0002083	Migraine without aura	-	OMIM:615224
1453	CSNK1D	HP:0002076	Migraine	20/20	OMIM:615224
1453	CSNK1D	HP:0002077	Migraine with aura	-	OMIM:615224
1453	CSNK1D	HP:0031873	Early chronotype	-	OMIM:615224
1453	CSNK1D	HP:0006979	Sleep-wake cycle disturbance	-	OMIM:615224
1457	CSNK2A1	HP:0001156	Brachydactyly	1/5	OMIM:617062
1457	CSNK2A1	HP:0025161	Frequent temper tantrums	2/5	OMIM:617062
1457	CSNK2A1	HP:0009879	Simplified gyral pattern	1/5	OMIM:617062
1457	CSNK2A1	HP:0001252	Hypotonia	4/5	OMIM:617062
1457	CSNK2A1	HP:0001251	Ataxia	2/5	OMIM:617062
1457	CSNK2A1	HP:0001249	Intellectual disability	4/5	OMIM:617062
1457	CSNK2A1	HP:0001263	Global developmental delay	5/5	OMIM:617062
1457	CSNK2A1	HP:0002553	Highly arched eyebrow	2/5	OMIM:617062
1457	CSNK2A1	HP:0001382	Joint hypermobility	1/5	OMIM:617062
1457	CSNK2A1	HP:0000023	Inguinal hernia	1/5	OMIM:617062
1457	CSNK2A1	HP:0001344	Absent speech	1/5	OMIM:617062
1457	CSNK2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617062
1457	CSNK2A1	HP:0001302	Pachygyria	3/5	OMIM:617062
1457	CSNK2A1	HP:0002650	Scoliosis	1/5	OMIM:617062
1457	CSNK2A1	HP:0002720	Decreased circulating IgA concentration	1/5	OMIM:617062
1457	CSNK2A1	HP:0002019	Constipation	3/5	OMIM:617062
1457	CSNK2A1	HP:0003593	Infantile onset	5/5	OMIM:617062
1457	CSNK2A1	HP:0007018	Attention deficit hyperactivity disorder	2/5	OMIM:617062
1457	CSNK2A1	HP:0011968	Feeding difficulties	2/5	OMIM:617062
1457	CSNK2A1	HP:0002360	Sleep abnormality	2/5	OMIM:617062
1457	CSNK2A1	HP:0010819	Atonic seizure	1/5	OMIM:617062
1457	CSNK2A1	HP:0010808	Protruding tongue	1/5	OMIM:617062
1457	CSNK2A1	HP:0004209	Clinodactyly of the 5th finger	1/5	OMIM:617062
1457	CSNK2A1	HP:0010055	Broad hallux	1/5	OMIM:617062
1457	CSNK2A1	HP:0000664	Synophrys	1/5	OMIM:617062
1457	CSNK2A1	HP:0004315	Decreased circulating IgG concentration	1/5	OMIM:617062
1457	CSNK2A1	HP:0004313	Decreased circulating immunoglobulin concentration	1/5	OMIM:617062
1457	CSNK2A1	HP:0031936	Delayed ability to walk	5/5	OMIM:617062
1457	CSNK2A1	HP:0100023	Recurrent hand flapping	1/5	OMIM:617062
1457	CSNK2A1	HP:0000750	Delayed speech and language development	2/5	OMIM:617062
1457	CSNK2A1	HP:0000954	Single transverse palmar crease	1/5	OMIM:617062
1457	CSNK2A1	HP:0000286	Epicanthus	2/5	OMIM:617062
1457	CSNK2A1	HP:0000252	Microcephaly	3/5	OMIM:617062
1457	CSNK2A1	HP:0000219	Thin upper lip vermilion	1/5	OMIM:617062
1457	CSNK2A1	HP:0000218	High palate	2/5	OMIM:617062
1457	CSNK2A1	HP:0001561	Polyhydramnios	1/5	OMIM:617062
1457	CSNK2A1	HP:0001537	Umbilical hernia	1/5	OMIM:617062
1457	CSNK2A1	HP:0001508	Failure to thrive	2/5	OMIM:617062
1457	CSNK2A1	HP:0000378	Cupped ear	1/5	OMIM:617062
1457	CSNK2A1	HP:0000396	Overfolded helix	2/5	OMIM:617062
1457	CSNK2A1	HP:0000369	Low-set ears	2/5	OMIM:617062
1457	CSNK2A1	HP:0000347	Micrognathia	1/5	OMIM:617062
1457	CSNK2A1	HP:0000316	Hypertelorism	1/5	OMIM:617062
1457	CSNK2A1	HP:0001627	Abnormal heart morphology	0/5	OMIM:617062
1457	CSNK2A1	HP:0000463	Anteverted nares	1/5	OMIM:617062
1457	CSNK2A1	HP:0000431	Wide nasal bridge	1/5	OMIM:617062
1457	CSNK2A1	HP:0000508	Ptosis	1/5	OMIM:617062
1457	CSNK2A1	HP:0000537	Epicanthus inversus	1/5	OMIM:617062
1460	CSNK2B	HP:0001290	Generalized hypotonia	1/2	OMIM:618732
1460	CSNK2B	HP:0001249	Intellectual disability	2/2	OMIM:618732
1460	CSNK2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:618732
1460	CSNK2B	HP:0000194	Open mouth	1/2	OMIM:618732
1460	CSNK2B	HP:0002714	Downturned corners of mouth	1/2	OMIM:618732
1460	CSNK2B	HP:0010808	Protruding tongue	1/2	OMIM:618732
1460	CSNK2B	HP:0031936	Delayed ability to walk	1/2	OMIM:618732
1460	CSNK2B	HP:0032794	Myoclonic seizure	1/2	OMIM:618732
1460	CSNK2B	HP:0000319	Smooth philtrum	1/2	OMIM:618732
1460	CSNK2B	HP:0000303	Mandibular prognathia	1/2	OMIM:618732
1462	VCAN	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
1462	VCAN	HP:0001123	Visual field defect	-	OMIM:143200
1462	VCAN	HP:0001270	Motor delay	-	OMIM:156550
1462	VCAN	HP:0001288	Gait disturbance	-	OMIM:156550
1462	VCAN	HP:0006095	Wide tufts of distal phalanges	-	OMIM:154780
1462	VCAN	HP:0001376	Limitation of joint mobility	-	OMIM:156550
1462	VCAN	HP:0012019	Lens luxation	-	OMIM:154780
1462	VCAN	HP:0000023	Inguinal hernia	-	OMIM:156550
1462	VCAN	HP:0002684	Thickened calvaria	-	OMIM:154780
1462	VCAN	HP:0002688	Absent frontal sinuses	-	OMIM:154780
1462	VCAN	HP:0008839	Hypoplastic pelvis	-	OMIM:156550
1462	VCAN	HP:0006172	Flattened, squared-off epiphyses of tubular bones	-	OMIM:156550
1462	VCAN	HP:0002663	Delayed epiphyseal ossification	-	OMIM:156550
1462	VCAN	HP:0002656	Epiphyseal dysplasia	-	OMIM:184840
1462	VCAN	HP:0002673	Coxa valga	-	OMIM:154780
1462	VCAN	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
1462	VCAN	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
1462	VCAN	HP:0000006	Autosomal dominant inheritance	-	OMIM:154780
1462	VCAN	HP:0000006	Autosomal dominant inheritance	-	OMIM:156550
1462	VCAN	HP:0000006	Autosomal dominant inheritance	-	OMIM:143200
1462	VCAN	HP:0000006	Autosomal dominant inheritance	-	OMIM:184840
1462	VCAN	HP:0008905	Rhizomelia	1/1	OMIM:156550
1462	VCAN	HP:0000179	Thick lower lip vermilion	-	OMIM:154780
1462	VCAN	HP:0000193	Bifid uvula	4/9	OMIM:154780
1462	VCAN	HP:0000175	Cleft palate	-	OMIM:184840
1462	VCAN	HP:0000175	Cleft palate	1/1	OMIM:156550
1462	VCAN	HP:0000175	Cleft palate	4/9	OMIM:154780
1462	VCAN	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
1462	VCAN	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
1462	VCAN	HP:0007643	Peripheral tractional retinal detachment	-	OMIM:143200
1462	VCAN	HP:0002779	Tracheomalacia	-	OMIM:156550
1462	VCAN	HP:0004619	Lumbar kyphoscoliosis	-	OMIM:156550
1462	VCAN	HP:0011800	Midface retrusion	-	OMIM:184840
1462	VCAN	HP:0011800	Midface retrusion	-	OMIM:156550
1462	VCAN	HP:0011800	Midface retrusion	9/9	OMIM:154780
1462	VCAN	HP:0002098	Respiratory distress	-	OMIM:156550
1462	VCAN	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:156550
1462	VCAN	HP:0008271	Abnormal cartilage collagen	-	OMIM:156550
1462	VCAN	HP:0010580	Enlarged epiphyses	-	OMIM:184840
1462	VCAN	HP:0003577	Congenital onset	1/1	OMIM:156550
1462	VCAN	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:156550
1462	VCAN	HP:0200003	Splayed epiphyses	-	OMIM:156550
1462	VCAN	HP:0003621	Juvenile onset	8/19	OMIM:180100
1462	VCAN	HP:0004209	Clinodactyly of the 5th finger	2/9	OMIM:154780
1462	VCAN	HP:0000648	Optic atrophy	-	OMIM:143200
1462	VCAN	HP:0030490	Exudative vitreoretinopathy	HP:0040283	OMIM:143200
1462	VCAN	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:154780
1462	VCAN	HP:0000662	Nyctalopia	26/28	OMIM:180100
1462	VCAN	HP:0004322	Short stature	-	OMIM:154780
1462	VCAN	HP:0030663	Optically empty vitreous	-	OMIM:143200
1462	VCAN	HP:0003088	Premature osteoarthritis	-	OMIM:184840
1462	VCAN	HP:0003037	Enlarged joints	-	OMIM:156550
1462	VCAN	HP:0003031	Ulnar bowing	-	OMIM:154780
1462	VCAN	HP:0003015	Flared metaphysis	-	OMIM:156550
1462	VCAN	HP:0000767	Pectus excavatum	1/1	OMIM:156550
1462	VCAN	HP:0011463	Childhood onset	3/19	OMIM:180100
1462	VCAN	HP:0011462	Young adult onset	8/19	OMIM:180100
1462	VCAN	HP:0003196	Short nose	9/9	OMIM:154780
1462	VCAN	HP:0000926	Platyspondyly	1/9	OMIM:154780
1462	VCAN	HP:0000926	Platyspondyly	-	OMIM:184840
1462	VCAN	HP:0000926	Platyspondyly	1/1	OMIM:156550
1462	VCAN	HP:0040025	Clinodactyly of the 4th finger	2/9	OMIM:154780
1462	VCAN	HP:0003273	Hip contracture	-	OMIM:156550
1462	VCAN	HP:0100250	Meningeal calcification	-	OMIM:154780
1462	VCAN	HP:0000947	Dumbbell-shaped long bone	-	OMIM:156550
1462	VCAN	HP:0000946	Hypoplastic ilia	-	OMIM:154780
1462	VCAN	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:143200
1462	VCAN	HP:0012283	Small distal femoral epiphysis	-	OMIM:154780
1462	VCAN	HP:0012284	Small proximal tibial epiphyses	-	OMIM:154780
1462	VCAN	HP:0000286	Epicanthus	-	OMIM:154780
1462	VCAN	HP:0000272	Malar flattening	-	OMIM:154780
1462	VCAN	HP:0000272	Malar flattening	27/28	OMIM:184840
1462	VCAN	HP:0000272	Malar flattening	1/1	OMIM:156550
1462	VCAN	HP:0006456	Irregular proximal tibial epiphyses	-	OMIM:154780
1462	VCAN	HP:0007773	Vitreoretinopathy	-	OMIM:154780
1462	VCAN	HP:0007773	Vitreoretinopathy	-	OMIM:143200
1462	VCAN	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
1462	VCAN	HP:0006407	Irregular distal femoral epiphysis	-	OMIM:154780
1462	VCAN	HP:0002812	Coxa vara	-	OMIM:156550
1462	VCAN	HP:0002829	Arthralgia	20/20	OMIM:184840
1462	VCAN	HP:0002827	Hip dislocation	-	OMIM:156550
1462	VCAN	HP:0005086	Knee osteoarthritis	-	OMIM:154780
1462	VCAN	HP:0006375	Dumbbell-shaped femur	1/1	OMIM:156550
1462	VCAN	HP:0006361	Irregular femoral epiphysis	-	OMIM:154780
1462	VCAN	HP:0000215	Thick upper lip vermilion	-	OMIM:154780
1462	VCAN	HP:0001537	Umbilical hernia	-	OMIM:156550
1462	VCAN	HP:0000201	Pierre-Robin sequence	4/9	OMIM:154780
1462	VCAN	HP:0000201	Pierre-Robin sequence	-	OMIM:184840
1462	VCAN	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
1462	VCAN	HP:0000369	Low-set ears	-	OMIM:154780
1462	VCAN	HP:0000343	Long philtrum	-	OMIM:154780
1462	VCAN	HP:0000347	Micrognathia	-	OMIM:154780
1462	VCAN	HP:0002982	Tibial bowing	1/1	OMIM:156550
1462	VCAN	HP:0000316	Hypertelorism	-	OMIM:154780
1462	VCAN	HP:0000311	Round face	-	OMIM:156550
1462	VCAN	HP:0002986	Radial bowing	-	OMIM:154780
1462	VCAN	HP:0002970	Genu varum	1/1	OMIM:156550
1462	VCAN	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:154780
1462	VCAN	HP:0000407	Sensorineural hearing impairment	16/28	OMIM:184840
1462	VCAN	HP:0000403	Recurrent otitis media	4/9	OMIM:154780
1462	VCAN	HP:0000403	Recurrent otitis media	-	OMIM:156550
1462	VCAN	HP:0000405	Conductive hearing impairment	-	OMIM:156550
1462	VCAN	HP:0005280	Depressed nasal bridge	27/28	OMIM:184840
1462	VCAN	HP:0005280	Depressed nasal bridge	-	OMIM:156550
1462	VCAN	HP:0005280	Depressed nasal bridge	9/9	OMIM:154780
1462	VCAN	HP:0000478	Abnormality of the eye	0/3	OMIM:184840
1462	VCAN	HP:0000463	Anteverted nares	27/28	OMIM:184840
1462	VCAN	HP:0000463	Anteverted nares	-	OMIM:154780
1462	VCAN	HP:0000470	Short neck	-	OMIM:156550
1462	VCAN	HP:0025707	Hypoplastic fetal nasal bone	-	OMIM:154780
1462	VCAN	HP:0005462	Calcification of falx cerebri	-	OMIM:154780
1462	VCAN	HP:0000518	Cataract	-	OMIM:156550
1462	VCAN	HP:0000518	Cataract	-	OMIM:143200
1462	VCAN	HP:0000518	Cataract	9/9	OMIM:154780
1462	VCAN	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
1462	VCAN	HP:0000520	Proptosis	-	OMIM:156550
1462	VCAN	HP:0000501	Glaucoma	-	OMIM:154780
1462	VCAN	HP:0000501	Glaucoma	-	OMIM:143200
1462	VCAN	HP:0000575	Scotoma	5/18	OMIM:180100
1462	VCAN	HP:0000572	Visual loss	-	OMIM:143200
1462	VCAN	HP:0000565	Esotropia	-	OMIM:154780
1462	VCAN	HP:0000541	Retinal detachment	-	OMIM:154780
1462	VCAN	HP:0000541	Retinal detachment	-	OMIM:156550
1462	VCAN	HP:0000533	Chorioretinal atrophy	-	OMIM:143200
1462	VCAN	HP:0000543	Optic disc pallor	1/1	OMIM:180100
1462	VCAN	HP:0000545	Myopia	-	OMIM:180100
1462	VCAN	HP:0000545	Myopia	1/1	OMIM:156550
1462	VCAN	HP:0000545	Myopia	-	OMIM:143200
1462	VCAN	HP:0000545	Myopia	9/9	OMIM:154780
1468	SLC25A10	HP:0001290	Generalized hypotonia	1/1	OMIM:618972
1468	SLC25A10	HP:0001257	Spasticity	1/1	OMIM:618972
1468	SLC25A10	HP:0007359	Focal-onset seizure	1/1	OMIM:618972
1468	SLC25A10	HP:0000047	Hypospadias	1/1	OMIM:618972
1468	SLC25A10	HP:0000034	Hydrocele testis	1/1	OMIM:618972
1468	SLC25A10	HP:0000007	Autosomal recessive inheritance	-	OMIM:618972
1468	SLC25A10	HP:0001336	Myoclonus	1/1	OMIM:618972
1468	SLC25A10	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:618972
1468	SLC25A10	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:618972
1468	SLC25A10	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:618972
1468	SLC25A10	HP:0002273	Tetraparesis	1/1	OMIM:618972
1468	SLC25A10	HP:0010841	Multifocal epileptiform discharges	1/1	OMIM:618972
1468	SLC25A10	HP:0100660	Dyskinesia	1/1	OMIM:618972
1468	SLC25A10	HP:0001935	Microcytic anemia	1/1	OMIM:618972
1468	SLC25A10	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1/1	OMIM:618972
1468	SLC25A10	HP:0000365	Hearing impairment	1/1	OMIM:618972
1468	SLC25A10	HP:0012469	Infantile spasms	1/1	OMIM:618972
1471	CST3	HP:0001297	Stroke	-	OMIM:105150
1471	CST3	HP:0001297	Stroke	HP:0040281	ORPHA:100008
1471	CST3	HP:0010982	Polygenic inheritance	-	OMIM:611953
1471	CST3	HP:0001342	Cerebral hemorrhage	-	OMIM:105150
1471	CST3	HP:0001342	Cerebral hemorrhage	HP:0040281	ORPHA:100008
1471	CST3	HP:0000006	Autosomal dominant inheritance	-	OMIM:105150
1471	CST3	HP:0002170	Intracranial hemorrhage	-	OMIM:105150
1471	CST3	HP:0011970	Cerebral amyloid angiopathy	HP:0040281	ORPHA:100008
1471	CST3	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:100008
1471	CST3	HP:0000608	Macular degeneration	-	OMIM:611953
1471	CST3	HP:0000726	Dementia	-	OMIM:105150
1471	CST3	HP:0003216	Generalized amyloid deposition	-	OMIM:105150
1471	CST3	HP:0011034	Amyloidosis	HP:0040282	ORPHA:100008
1474	CST6	HP:0000007	Autosomal recessive inheritance	-	OMIM:618535
1474	CST6	HP:0003577	Congenital onset	2/2	OMIM:618535
1474	CST6	HP:0002217	Slow-growing hair	2/2	OMIM:618535
1474	CST6	HP:0002231	Sparse body hair	2/2	OMIM:618535
1474	CST6	HP:0002209	Sparse scalp hair	2/2	OMIM:618535
1474	CST6	HP:0000613	Photophobia	2/2	OMIM:618535
1474	CST6	HP:0000653	Sparse eyelashes	2/2	OMIM:618535
1474	CST6	HP:0000989	Pruritus	1/2	OMIM:618535
1474	CST6	HP:0000982	Palmoplantar keratoderma	0/2	OMIM:618535
1474	CST6	HP:0000958	Dry skin	2/2	OMIM:618535
1474	CST6	HP:0000964	Eczematoid dermatitis	2/2	OMIM:618535
1474	CST6	HP:0000966	Hypohidrosis	2/2	OMIM:618535
1474	CST6	HP:0008070	Sparse hair	3/3	OMIM:618535
1474	CST6	HP:0000498	Blepharitis	2/2	OMIM:618535
1475	CSTA	HP:0000007	Autosomal recessive inheritance	-	OMIM:607936
1475	CSTA	HP:0007605	Excessive wrinkling of palmar skin	HP:0040283	ORPHA:263534
1475	CSTA	HP:0008404	Nail dystrophy	HP:0040283	OMIM:607936
1475	CSTA	HP:0100725	Lichenification	-	OMIM:607936
1475	CSTA	HP:0025092	Epidermal acanthosis	HP:0040283	OMIM:607936
1475	CSTA	HP:0200034	Papule	HP:0040283	ORPHA:263534
1475	CSTA	HP:0200041	Skin erosion	HP:0040283	ORPHA:263534
1475	CSTA	HP:0008499	High hypermetropia	HP:0040282	ORPHA:263534
1475	CSTA	HP:0010783	Erythema	HP:0040282	ORPHA:263534
1475	CSTA	HP:0012733	Macule	HP:0040283	ORPHA:263534
1475	CSTA	HP:0000982	Palmoplantar keratoderma	-	OMIM:607936
1475	CSTA	HP:0000953	Hyperpigmentation of the skin	HP:0040283	ORPHA:263534
1475	CSTA	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:263534
1475	CSTA	HP:0000962	Hyperkeratosis	-	OMIM:607936
1475	CSTA	HP:0040162	Orthokeratosis	-	OMIM:607936
1475	CSTA	HP:0008064	Ichthyosis	-	OMIM:607936
1475	CSTA	HP:0008064	Ichthyosis	HP:0040282	ORPHA:263534
1475	CSTA	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:263534
1475	CSTA	HP:0040189	Scaling skin	-	OMIM:607936
1475	CSTA	HP:0040189	Scaling skin	HP:0040282	ORPHA:263534
1475	CSTA	HP:0012393	Allergy	HP:0040282	ORPHA:263534
1476	CSTB	HP:0010850	EEG with spike-wave complexes	2/3	OMIM:254800
1476	CSTB	HP:0001268	Mental deterioration	4/10	OMIM:254800
1476	CSTB	HP:0001256	Intellectual disability, mild	1/3	OMIM:254800
1476	CSTB	HP:0001251	Ataxia	HP:0040282	ORPHA:308
1476	CSTB	HP:0001251	Ataxia	2/3	OMIM:254800
1476	CSTB	HP:0001249	Intellectual disability	HP:0040283	ORPHA:308
1476	CSTB	HP:0001260	Dysarthria	-	OMIM:254800
1476	CSTB	HP:0001260	Dysarthria	HP:0040282	ORPHA:308
1476	CSTB	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:248
1476	CSTB	HP:0000007	Autosomal recessive inheritance	-	OMIM:254800
1476	CSTB	HP:0001336	Myoclonus	42/42	OMIM:254800
1476	CSTB	HP:0001336	Myoclonus	HP:0040281	ORPHA:308
1476	CSTB	HP:0006323	Premature loss of primary teeth	HP:0040281	ORPHA:248
1476	CSTB	HP:0002080	Intention tremor	HP:0040282	ORPHA:308
1476	CSTB	HP:0002069	Bilateral tonic-clonic seizure	31/32	OMIM:254800
1476	CSTB	HP:0002070	Limb ataxia	HP:0040281	ORPHA:308
1476	CSTB	HP:0002121	Generalized non-motor (absence) seizure	-	OMIM:254800
1476	CSTB	HP:0002213	Fine hair	HP:0040281	ORPHA:248
1476	CSTB	HP:0007000	Morning myoclonic jerks	HP:0040281	ORPHA:308
1476	CSTB	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:248
1476	CSTB	HP:0002392	EEG with polyspike wave complexes	-	OMIM:254800
1476	CSTB	HP:0002392	EEG with polyspike wave complexes	HP:0040281	ORPHA:308
1476	CSTB	HP:0003621	Juvenile onset	29/29	OMIM:254800
1476	CSTB	HP:0000685	Hypoplasia of teeth	HP:0040281	ORPHA:248
1476	CSTB	HP:0000726	Dementia	1/3	OMIM:254800
1476	CSTB	HP:0000726	Dementia	HP:0040283	ORPHA:308
1476	CSTB	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:308
1476	CSTB	HP:0000958	Dry skin	HP:0040281	ORPHA:248
1476	CSTB	HP:0000966	Hypohidrosis	HP:0040282	ORPHA:248
1476	CSTB	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:248
1476	CSTB	HP:0001596	Alopecia	HP:0040282	ORPHA:248
1476	CSTB	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:248
1476	CSTB	HP:0011182	Interictal epileptiform activity	6/10	OMIM:254800
1478	CSTF2	HP:0001270	Motor delay	0/3	OMIM:301116
1478	CSTF2	HP:0001256	Intellectual disability, mild	3/3	OMIM:301116
1478	CSTF2	HP:0001419	X-linked recessive inheritance	-	OMIM:301116
1478	CSTF2	HP:0000750	Delayed speech and language development	1/1	OMIM:301116
1478	CSTF2	HP:0011463	Childhood onset	3/3	OMIM:301116
1482	NKX2-5	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3303
1482	NKX2-5	HP:0010883	Aortic valve atresia	-	OMIM:614435
1482	NKX2-5	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:3303
1482	NKX2-5	HP:0010880	Increased nuchal translucency	HP:0040282	ORPHA:1627
1482	NKX2-5	HP:0010864	Intellectual disability, severe	-	OMIM:225250
1482	NKX2-5	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:95713
1482	NKX2-5	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:95712
1482	NKX2-5	HP:0032210	Decreased circulating free T3	1/4	OMIM:225250
1482	NKX2-5	HP:0001297	Stroke	HP:0040284	ORPHA:99103
1482	NKX2-5	HP:0001270	Motor delay	HP:0040282	ORPHA:1627
1482	NKX2-5	HP:0001279	Syncope	HP:0040282	ORPHA:334
1482	NKX2-5	HP:0001279	Syncope	HP:0040282	ORPHA:871
1482	NKX2-5	HP:0001279	Syncope	HP:0040284	ORPHA:99103
1482	NKX2-5	HP:0001254	Lethargy	HP:0040282	ORPHA:95713
1482	NKX2-5	HP:0001252	Hypotonia	HP:0040282	ORPHA:1627
1482	NKX2-5	HP:0001252	Hypotonia	HP:0040281	ORPHA:95713
1482	NKX2-5	HP:0001252	Hypotonia	HP:0040281	ORPHA:95712
1482	NKX2-5	HP:0001263	Global developmental delay	HP:0040282	ORPHA:95713
1482	NKX2-5	HP:0001263	Global developmental delay	HP:0040282	ORPHA:95712
1482	NKX2-5	HP:0002557	Hypoplastic nipples	HP:0040282	ORPHA:1627
1482	NKX2-5	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3303
1482	NKX2-5	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:1627
1482	NKX2-5	HP:0001324	Muscle weakness	HP:0040281	ORPHA:95713
1482	NKX2-5	HP:0001324	Muscle weakness	HP:0040281	ORPHA:95712
1482	NKX2-5	HP:0000007	Autosomal recessive inheritance	-	OMIM:217095
1482	NKX2-5	HP:0000006	Autosomal dominant inheritance	-	OMIM:225250
1482	NKX2-5	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
1482	NKX2-5	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
1482	NKX2-5	HP:0000006	Autosomal dominant inheritance	-	OMIM:614432
1482	NKX2-5	HP:0000006	Autosomal dominant inheritance	-	OMIM:614435
1482	NKX2-5	HP:0000006	Autosomal dominant inheritance	-	OMIM:108900
1482	NKX2-5	HP:0025483	Abnormal circulating thyroglobulin concentration	HP:0040281	ORPHA:95713
1482	NKX2-5	HP:6000855	Cold intolerance	HP:0040282	ORPHA:95712
1482	NKX2-5	HP:0000158	Macroglossia	HP:0040281	ORPHA:95713
1482	NKX2-5	HP:0000158	Macroglossia	HP:0040281	ORPHA:95712
1482	NKX2-5	HP:0033850	Coldness	HP:0040282	ORPHA:95713
1482	NKX2-5	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:1627
1482	NKX2-5	HP:0002718	Recurrent bacterial infections	HP:0040284	ORPHA:99103
1482	NKX2-5	HP:0002019	Constipation	HP:0040281	ORPHA:95713
1482	NKX2-5	HP:0002019	Constipation	HP:0040281	ORPHA:95712
1482	NKX2-5	HP:0002027	Abdominal pain	HP:0040282	ORPHA:871
1482	NKX2-5	HP:0005990	Thyroid hypoplasia	-	OMIM:225250
1482	NKX2-5	HP:0002015	Dysphagia	HP:0040283	ORPHA:95712
1482	NKX2-5	HP:0005957	Breathing dysregulation	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
1482	NKX2-5	HP:0002094	Dyspnea	HP:0040282	ORPHA:871
1482	NKX2-5	HP:0002094	Dyspnea	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0002090	Pneumonia	HP:0040284	ORPHA:99103
1482	NKX2-5	HP:0011710	Bundle branch block	HP:0040282	ORPHA:871
1482	NKX2-5	HP:0011710	Bundle branch block	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0011710	Bundle branch block	HP:0040281	ORPHA:1479
1482	NKX2-5	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0008191	Thyroid agenesis	1/4	OMIM:225250
1482	NKX2-5	HP:0008191	Thyroid agenesis	HP:0040281	ORPHA:95713
1482	NKX2-5	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0004749	Atrial flutter	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0008282	Unconjugated hyperbilirubinemia	HP:0040282	ORPHA:95713
1482	NKX2-5	HP:0003577	Congenital onset	5/5	OMIM:614432
1482	NKX2-5	HP:0003577	Congenital onset	1/1	OMIM:614435
1482	NKX2-5	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
1482	NKX2-5	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:99103
1482	NKX2-5	HP:0100786	Hypersomnia	HP:0040281	ORPHA:95713
1482	NKX2-5	HP:0100786	Hypersomnia	HP:0040281	ORPHA:95712
1482	NKX2-5	HP:0100749	Chest pain	HP:0040282	ORPHA:334
1482	NKX2-5	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:95713
1482	NKX2-5	HP:0002321	Vertigo	HP:0040282	ORPHA:334
1482	NKX2-5	HP:0002321	Vertigo	HP:0040282	ORPHA:871
1482	NKX2-5	HP:0002326	Transient ischemic attack	HP:0040284	ORPHA:99103
1482	NKX2-5	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:2248
1482	NKX2-5	HP:0010741	Pedal edema	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0004962	Thoracic aorta calcification	HP:0040281	ORPHA:402075
1482	NKX2-5	HP:0004935	Pulmonary artery atresia	HP:0040283	OMIM:108900
1482	NKX2-5	HP:0004933	Ascending aortic dissection	HP:0040284	ORPHA:402075
1482	NKX2-5	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
1482	NKX2-5	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:3303
1482	NKX2-5	HP:0006887	Intellectual disability, progressive	-	OMIM:225250
1482	NKX2-5	HP:0001962	Palpitations	HP:0040282	ORPHA:334
1482	NKX2-5	HP:0001962	Palpitations	HP:0040282	ORPHA:99103
1482	NKX2-5	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:217095
1482	NKX2-5	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
1482	NKX2-5	HP:0010055	Broad hallux	-	OMIM:217095
1482	NKX2-5	HP:0004322	Short stature	HP:0040282	ORPHA:95713
1482	NKX2-5	HP:0004322	Short stature	HP:0040282	ORPHA:95712
1482	NKX2-5	HP:0004383	Hypoplastic left heart	HP:0040281	ORPHA:2248
1482	NKX2-5	HP:0004383	Hypoplastic left heart	1/1	OMIM:614435
1482	NKX2-5	HP:0004383	Hypoplastic left heart	HP:0040284	ORPHA:402075
1482	NKX2-5	HP:0004380	Aortic valve calcification	HP:0040281	ORPHA:402075
1482	NKX2-5	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:1627
1482	NKX2-5	HP:0012722	Heart block	HP:0040282	ORPHA:871
1482	NKX2-5	HP:0100028	Ectopic thyroid	3/4	OMIM:225250
1482	NKX2-5	HP:0100028	Ectopic thyroid	HP:0040280	ORPHA:95712
1482	NKX2-5	HP:0100029	Lingual thyroid	HP:0040281	ORPHA:95712
1482	NKX2-5	HP:0012764	Orthopnea	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0004415	Pulmonary artery stenosis	1/3	OMIM:614432
1482	NKX2-5	HP:0004467	Preauricular pit	HP:0040282	ORPHA:3303
1482	NKX2-5	HP:0004467	Preauricular pit	-	OMIM:187500
1482	NKX2-5	HP:0030718	Right atrial enlargement	HP:0040282	ORPHA:99103
1482	NKX2-5	HP:0000851	Congenital hypothyroidism	-	OMIM:225250
1482	NKX2-5	HP:0000822	Hypertension	HP:0040282	ORPHA:402075
1482	NKX2-5	HP:0000821	Hypothyroidism	4/4	OMIM:225250
1482	NKX2-5	HP:0000821	Hypothyroidism	HP:0040281	ORPHA:95713
1482	NKX2-5	HP:0000821	Hypothyroidism	HP:0040281	ORPHA:95712
1482	NKX2-5	HP:0000820	Abnormality of the thyroid gland	HP:0040281	ORPHA:95712
1482	NKX2-5	HP:0011560	Mitral atresia	HP:0040283	ORPHA:2248
1482	NKX2-5	HP:0011560	Mitral atresia	-	OMIM:614435
1482	NKX2-5	HP:0033078	Decreased circulating free T4 concentration	4/4	OMIM:225250
1482	NKX2-5	HP:0003270	Abdominal distention	HP:0040281	ORPHA:95713
1482	NKX2-5	HP:0003270	Abdominal distention	HP:0040281	ORPHA:95712
1482	NKX2-5	HP:0100259	Postaxial polydactyly	-	OMIM:217095
1482	NKX2-5	HP:0000958	Dry skin	HP:0040282	ORPHA:95712
1482	NKX2-5	HP:0000952	Jaundice	HP:0040281	ORPHA:95712
1482	NKX2-5	HP:0000961	Cyanosis	HP:0040284	ORPHA:99103
1482	NKX2-5	HP:0011675	Arrhythmia	HP:0040281	ORPHA:1479
1482	NKX2-5	HP:0011675	Arrhythmia	HP:0040282	ORPHA:871
1482	NKX2-5	HP:0011675	Arrhythmia	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
1482	NKX2-5	HP:0000286	Epicanthus	HP:0040282	ORPHA:1627
1482	NKX2-5	HP:0000282	Facial edema	HP:0040282	ORPHA:95713
1482	NKX2-5	HP:0000280	Coarse facial features	HP:0040281	ORPHA:95713
1482	NKX2-5	HP:0000280	Coarse facial features	HP:0040281	ORPHA:95712
1482	NKX2-5	HP:0012248	Prolonged PR interval	-	OMIM:108900
1482	NKX2-5	HP:0012250	ST segment depression	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0000256	Macrocephaly	HP:0040282	ORPHA:1627
1482	NKX2-5	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:95713
1482	NKX2-5	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:95712
1482	NKX2-5	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:3303
1482	NKX2-5	HP:0005133	Right ventricular dilatation	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0005113	Aortic arch aneurysm	HP:0040282	ORPHA:402075
1482	NKX2-5	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0005110	Atrial fibrillation	-	OMIM:108900
1482	NKX2-5	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
1482	NKX2-5	HP:0005105	Abnormal nasal morphology	HP:0040281	ORPHA:3303
1482	NKX2-5	HP:0000239	Large fontanelles	HP:0040281	ORPHA:95713
1482	NKX2-5	HP:0000239	Large fontanelles	HP:0040282	ORPHA:1627
1482	NKX2-5	HP:0000239	Large fontanelles	HP:0040281	ORPHA:95712
1482	NKX2-5	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:99103
1482	NKX2-5	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:3303
1482	NKX2-5	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:1627
1482	NKX2-5	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:95713
1482	NKX2-5	HP:0001537	Umbilical hernia	HP:0040281	ORPHA:95712
1482	NKX2-5	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3303
1482	NKX2-5	HP:0001510	Growth delay	-	OMIM:225250
1482	NKX2-5	HP:0001510	Growth delay	HP:0040282	ORPHA:95713
1482	NKX2-5	HP:0001510	Growth delay	HP:0040282	ORPHA:95712
1482	NKX2-5	HP:0012378	Fatigue	HP:0040282	ORPHA:334
1482	NKX2-5	HP:0012378	Fatigue	HP:0040281	ORPHA:95713
1482	NKX2-5	HP:0012378	Fatigue	HP:0040282	ORPHA:95712
1482	NKX2-5	HP:0012378	Fatigue	HP:0040282	ORPHA:99103
1482	NKX2-5	HP:0012382	Left-to-right shunt	HP:0040281	ORPHA:99103
1482	NKX2-5	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:95713
1482	NKX2-5	HP:0006536	Airway obstruction	HP:0040284	ORPHA:99103
1482	NKX2-5	HP:0001609	Hoarse voice	HP:0040282	ORPHA:95712
1482	NKX2-5	HP:0001618	Dysphonia	HP:0040283	ORPHA:95712
1482	NKX2-5	HP:0001615	Hoarse cry	HP:0040282	ORPHA:95713
1482	NKX2-5	HP:0002916	Abnormality of chromosome segregation	HP:0040283	ORPHA:2248
1482	NKX2-5	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	HP:0040281	ORPHA:95712
1482	NKX2-5	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	4/4	OMIM:225250
1482	NKX2-5	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0005162	Abnormal left ventricular function	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0001671	Abnormal cardiac septum morphology	HP:0040281	ORPHA:1479
1482	NKX2-5	HP:0001674	Complete atrioventricular canal defect	-	OMIM:217095
1482	NKX2-5	HP:0001669	Transposition of the great arteries	-	OMIM:217095
1482	NKX2-5	HP:0000337	Broad forehead	-	OMIM:187500
1482	NKX2-5	HP:0000337	Broad forehead	HP:0040281	ORPHA:3303
1482	NKX2-5	HP:0001664	Torsade de pointes	1/46	OMIM:115000
1482	NKX2-5	HP:0001682	Subvalvular aortic stenosis	HP:0040283	OMIM:108900
1482	NKX2-5	HP:0001684	Secundum atrial septal defect	-	OMIM:108900
1482	NKX2-5	HP:0001680	Coarctation of aorta	HP:0040281	ORPHA:402075
1482	NKX2-5	HP:0001680	Coarctation of aorta	-	OMIM:217095
1482	NKX2-5	HP:0001650	Aortic valve stenosis	HP:0040281	ORPHA:402075
1482	NKX2-5	HP:0012304	Hypoplastic aortic arch	HP:0040282	ORPHA:2248
1482	NKX2-5	HP:0001647	Bicuspid aortic valve	HP:0040280	ORPHA:402075
1482	NKX2-5	HP:0000316	Hypertelorism	HP:0040282	ORPHA:1627
1482	NKX2-5	HP:0000316	Hypertelorism	HP:0040283	OMIM:217095
1482	NKX2-5	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:2248
1482	NKX2-5	HP:0001643	Patent ductus arteriosus	1/1	OMIM:614432
1482	NKX2-5	HP:0001645	Sudden cardiac death	-	OMIM:115000
1482	NKX2-5	HP:0001660	Truncus arteriosus	-	OMIM:217095
1482	NKX2-5	HP:0001663	Ventricular fibrillation	-	OMIM:115000
1482	NKX2-5	HP:0030148	Heart murmur	HP:0040281	ORPHA:402075
1482	NKX2-5	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
1482	NKX2-5	HP:0001659	Aortic regurgitation	HP:0040281	ORPHA:402075
1482	NKX2-5	HP:0001653	Mitral regurgitation	1/4	OMIM:225250
1482	NKX2-5	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0001655	Patent foramen ovale	1/4	OMIM:225250
1482	NKX2-5	HP:0001629	Ventricular septal defect	HP:0040283	OMIM:108900
1482	NKX2-5	HP:0001629	Ventricular septal defect	5/5	OMIM:614432
1482	NKX2-5	HP:0001629	Ventricular septal defect	-	OMIM:614435
1482	NKX2-5	HP:0001627	Abnormal heart morphology	HP:0040281	ORPHA:1627
1482	NKX2-5	HP:0001636	Tetralogy of Fallot	HP:0040283	OMIM:108900
1482	NKX2-5	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:3303
1482	NKX2-5	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
1482	NKX2-5	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:871
1482	NKX2-5	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:2248
1482	NKX2-5	HP:0001631	Atrial septal defect	1/3	OMIM:614432
1482	NKX2-5	HP:0001633	Abnormal mitral valve morphology	HP:0040283	ORPHA:99103
1482	NKX2-5	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
1482	NKX2-5	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
1482	NKX2-5	HP:0005317	Increased pulmonary vascular resistance	HP:0040284	ORPHA:99103
1482	NKX2-5	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
1482	NKX2-5	HP:0001708	Right ventricular failure	HP:0040284	ORPHA:99103
1482	NKX2-5	HP:0001719	Double outlet right ventricle	-	OMIM:217095
1482	NKX2-5	HP:0001718	Mitral stenosis	HP:0040283	ORPHA:2248
1482	NKX2-5	HP:0001712	Left ventricular hypertrophy	HP:0040283	OMIM:108900
1482	NKX2-5	HP:0000470	Short neck	HP:0040282	ORPHA:1627
1482	NKX2-5	HP:0011103	Abnormal left ventricular outflow tract morphology	HP:0040284	ORPHA:402075
1482	NKX2-5	HP:0000520	Proptosis	-	OMIM:187500
1482	NKX2-5	HP:0000520	Proptosis	HP:0040282	ORPHA:3303
1482	NKX2-5	HP:0031664	Systolic heart murmur	HP:0040282	ORPHA:99103
1487	CTBP1	HP:0001177	Preaxial hand polydactyly	HP:0040282	ORPHA:280
1487	CTBP1	HP:0001177	Preaxial hand polydactyly	HP:0040283	OMIM:194190
1487	CTBP1	HP:0001171	Split hand	HP:0040282	ORPHA:280
1487	CTBP1	HP:0001171	Split hand	HP:0040283	OMIM:194190
1487	CTBP1	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:280
1487	CTBP1	HP:0009918	Ectopia pupillae	-	OMIM:194190
1487	CTBP1	HP:0009890	High anterior hairline	HP:0040281	ORPHA:280
1487	CTBP1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:280
1487	CTBP1	HP:0010864	Intellectual disability, severe	-	OMIM:194190
1487	CTBP1	HP:0008551	Microtia	HP:0040281	ORPHA:280
1487	CTBP1	HP:0003745	Sporadic	-	OMIM:194190
1487	CTBP1	HP:0001290	Generalized hypotonia	HP:0040281	OMIM:194190
1487	CTBP1	HP:0001272	Cerebellar atrophy	2/4	OMIM:617915
1487	CTBP1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280
1487	CTBP1	HP:0001274	Agenesis of corpus callosum	HP:0040283	OMIM:194190
1487	CTBP1	HP:0001270	Motor delay	4/4	OMIM:617915
1487	CTBP1	HP:0001250	Seizure	HP:0040282	OMIM:194190
1487	CTBP1	HP:0001250	Seizure	HP:0040281	ORPHA:280
1487	CTBP1	HP:0001252	Hypotonia	HP:0040281	ORPHA:280
1487	CTBP1	HP:0001252	Hypotonia	4/4	OMIM:617915
1487	CTBP1	HP:0001251	Ataxia	HP:0040281	ORPHA:280
1487	CTBP1	HP:0001251	Ataxia	4/4	OMIM:617915
1487	CTBP1	HP:0001249	Intellectual disability	3/4	OMIM:617915
1487	CTBP1	HP:0001263	Global developmental delay	HP:0040281	OMIM:194190
1487	CTBP1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:280
1487	CTBP1	HP:0001263	Global developmental delay	4/4	OMIM:617915
1487	CTBP1	HP:0007385	Aplasia cutis congenita of scalp	HP:0040282	ORPHA:280
1487	CTBP1	HP:0007385	Aplasia cutis congenita of scalp	HP:0040283	OMIM:194190
1487	CTBP1	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:280
1487	CTBP1	HP:0002540	Inability to walk	2/4	OMIM:617915
1487	CTBP1	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:280
1487	CTBP1	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:280
1487	CTBP1	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:280
1487	CTBP1	HP:0000078	Abnormality of the genital system	HP:0040283	ORPHA:280
1487	CTBP1	HP:0025336	Delayed ability to sit	3/4	OMIM:617915
1487	CTBP1	HP:0001385	Hip dysplasia	HP:0040283	OMIM:194190
1487	CTBP1	HP:0000047	Hypospadias	HP:0040281	ORPHA:280
1487	CTBP1	HP:0000047	Hypospadias	50%	OMIM:194190
1487	CTBP1	HP:0001362	Calvarial skull defect	HP:0040282	ORPHA:280
1487	CTBP1	HP:0000028	Cryptorchidism	50%	OMIM:194190
1487	CTBP1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:280
1487	CTBP1	HP:0008850	Severe postnatal growth retardation	HP:0040282	OMIM:194190
1487	CTBP1	HP:0008830	Hypoplastic pubic ramus	HP:0040282	ORPHA:280
1487	CTBP1	HP:0001331	Absent septum pellucidum	-	OMIM:194190
1487	CTBP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:194190
1487	CTBP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617915
1487	CTBP1	HP:0002650	Scoliosis	HP:0040282	OMIM:194190
1487	CTBP1	HP:0002650	Scoliosis	HP:0040282	ORPHA:280
1487	CTBP1	HP:0000188	Short upper lip	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000159	Abnormal lip morphology	HP:0040281	ORPHA:280
1487	CTBP1	HP:0000175	Cleft palate	HP:0040283	ORPHA:280
1487	CTBP1	HP:0000175	Cleft palate	-	OMIM:194190
1487	CTBP1	HP:0000153	Abnormality of the mouth	HP:0040281	ORPHA:280
1487	CTBP1	HP:0000151	Aplasia of the uterus	HP:0040283	ORPHA:280
1487	CTBP1	HP:0000151	Aplasia of the uterus	HP:0040283	OMIM:194190
1487	CTBP1	HP:0006297	Enamel hypoplasia	4/4	OMIM:617915
1487	CTBP1	HP:0000119	Abnormality of the genitourinary system	25%	OMIM:194190
1487	CTBP1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:280
1487	CTBP1	HP:0002750	Delayed skeletal maturation	-	OMIM:194190
1487	CTBP1	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:280
1487	CTBP1	HP:0002714	Downturned corners of mouth	HP:0040281	ORPHA:280
1487	CTBP1	HP:0002714	Downturned corners of mouth	HP:0040282	OMIM:194190
1487	CTBP1	HP:0002720	Decreased circulating IgA concentration	HP:0040282	ORPHA:280
1487	CTBP1	HP:0002721	Immunodeficiency	69%	OMIM:194190
1487	CTBP1	HP:0002020	Gastroesophageal reflux	-	OMIM:194190
1487	CTBP1	HP:0003363	Abdominal situs inversus	HP:0040283	ORPHA:280
1487	CTBP1	HP:0002011	Morphological central nervous system abnormality	33%	OMIM:194190
1487	CTBP1	HP:0002007	Frontal bossing	HP:0040281	ORPHA:280
1487	CTBP1	HP:0002007	Frontal bossing	1/4	OMIM:617915
1487	CTBP1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:280
1487	CTBP1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	OMIM:194190
1487	CTBP1	HP:0002066	Gait ataxia	3/3	OMIM:617915
1487	CTBP1	HP:0002057	Prominent glabella	HP:0040282	OMIM:194190
1487	CTBP1	HP:0010464	Streak ovary	HP:0040283	ORPHA:280
1487	CTBP1	HP:0002144	Tethered cord	HP:0040282	ORPHA:280
1487	CTBP1	HP:0002144	Tethered cord	HP:0040283	OMIM:194190
1487	CTBP1	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280
1487	CTBP1	HP:0002119	Ventriculomegaly	-	OMIM:194190
1487	CTBP1	HP:0004794	Malrotation of small bowel	-	OMIM:194190
1487	CTBP1	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:280
1487	CTBP1	HP:0002162	Low posterior hairline	-	OMIM:194190
1487	CTBP1	HP:0011863	Abnormal sternal ossification	-	OMIM:194190
1487	CTBP1	HP:0003593	Infantile onset	4/4	OMIM:617915
1487	CTBP1	HP:0003557	Increased variability in muscle fiber diameter	2/4	OMIM:617915
1487	CTBP1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:280
1487	CTBP1	HP:0100790	Hernia	HP:0040283	ORPHA:280
1487	CTBP1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:280
1487	CTBP1	HP:0011968	Feeding difficulties	3/4	OMIM:617915
1487	CTBP1	HP:0002389	Cavum septum pellucidum	-	OMIM:194190
1487	CTBP1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:280
1487	CTBP1	HP:0001028	Hemangioma	HP:0040282	ORPHA:280
1487	CTBP1	HP:0001028	Hemangioma	HP:0040282	OMIM:194190
1487	CTBP1	HP:0002353	EEG abnormality	90%	OMIM:194190
1487	CTBP1	HP:0001080	Biliary tract abnormality	HP:0040283	OMIM:194190
1487	CTBP1	HP:0007109	Periventricular cysts	-	OMIM:194190
1487	CTBP1	HP:0009778	Short thumb	HP:0040282	ORPHA:280
1487	CTBP1	HP:0009778	Short thumb	HP:0040283	OMIM:194190
1487	CTBP1	HP:0000639	Nystagmus	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000639	Nystagmus	HP:0040283	ORPHA:280
1487	CTBP1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:280
1487	CTBP1	HP:0000647	Sclerocornea	HP:0040283	ORPHA:280
1487	CTBP1	HP:0000612	Iris coloboma	HP:0040282	ORPHA:280
1487	CTBP1	HP:0000612	Iris coloboma	30%	OMIM:194190
1487	CTBP1	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:280
1487	CTBP1	HP:0000679	Taurodontia	HP:0040282	ORPHA:280
1487	CTBP1	HP:0000668	Hypodontia	HP:0040281	ORPHA:280
1487	CTBP1	HP:0000668	Hypodontia	HP:0040282	OMIM:194190
1487	CTBP1	HP:0004322	Short stature	HP:0040282	OMIM:194190
1487	CTBP1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:280
1487	CTBP1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	OMIM:194190
1487	CTBP1	HP:0009193	Metacarpal pseudoepiphysis	-	OMIM:194190
1487	CTBP1	HP:0100022	Abnormality of movement	HP:0040283	ORPHA:280
1487	CTBP1	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:280
1487	CTBP1	HP:0000733	Motor stereotypy	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000750	Delayed speech and language development	3/4	OMIM:617915
1487	CTBP1	HP:0010109	Short hallux	HP:0040282	ORPHA:280
1487	CTBP1	HP:0010109	Short hallux	HP:0040283	OMIM:194190
1487	CTBP1	HP:0000776	Congenital diaphragmatic hernia	HP:0040282	ORPHA:280
1487	CTBP1	HP:0003199	Decreased muscle mass	HP:0040281	OMIM:194190
1487	CTBP1	HP:0000925	Abnormality of the vertebral column	HP:0040282	ORPHA:280
1487	CTBP1	HP:0000902	Rib fusion	HP:0040282	ORPHA:280
1487	CTBP1	HP:0000902	Rib fusion	HP:0040282	OMIM:194190
1487	CTBP1	HP:0004484	Craniofacial asymmetry	HP:0040282	OMIM:194190
1487	CTBP1	HP:0004467	Preauricular pit	HP:0040282	ORPHA:280
1487	CTBP1	HP:0004467	Preauricular pit	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000826	Precocious puberty	-	OMIM:194190
1487	CTBP1	HP:0000958	Dry skin	HP:0040282	ORPHA:280
1487	CTBP1	HP:0000954	Single transverse palmar crease	HP:0040283	OMIM:194190
1487	CTBP1	HP:0000960	Sacral dimple	HP:0040282	ORPHA:280
1487	CTBP1	HP:0000960	Sacral dimple	HP:0040283	OMIM:194190
1487	CTBP1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:280
1487	CTBP1	HP:0000286	Epicanthus	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000286	Epicanthus	HP:0040281	ORPHA:280
1487	CTBP1	HP:0000288	Abnormality of the philtrum	HP:0040281	ORPHA:280
1487	CTBP1	HP:0000278	Retrognathia	1/4	OMIM:617915
1487	CTBP1	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:280
1487	CTBP1	HP:0002827	Hip dislocation	-	OMIM:194190
1487	CTBP1	HP:0002808	Kyphosis	HP:0040282	ORPHA:280
1487	CTBP1	HP:0002808	Kyphosis	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000238	Hydrocephalus	HP:0040283	OMIM:194190
1487	CTBP1	HP:0000252	Microcephaly	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000252	Microcephaly	HP:0040281	ORPHA:280
1487	CTBP1	HP:0000218	High palate	1/4	OMIM:617915
1487	CTBP1	HP:0001558	Decreased fetal movement	HP:0040281	ORPHA:280
1487	CTBP1	HP:0001558	Decreased fetal movement	-	OMIM:194190
1487	CTBP1	HP:0000202	Orofacial cleft	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000204	Cleft upper lip	HP:0040282	ORPHA:280
1487	CTBP1	HP:0000204	Cleft upper lip	-	OMIM:194190
1487	CTBP1	HP:0001508	Failure to thrive	HP:0040282	OMIM:194190
1487	CTBP1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:280
1487	CTBP1	HP:0001519	Disproportionate tall stature	HP:0040283	ORPHA:280
1487	CTBP1	HP:0001518	Small for gestational age	HP:0040281	OMIM:194190
1487	CTBP1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:280
1487	CTBP1	HP:0001511	Intrauterine growth retardation	HP:0040281	OMIM:194190
1487	CTBP1	HP:0001510	Growth delay	HP:0040281	OMIM:194190
1487	CTBP1	HP:0000384	Preauricular skin tag	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000377	Abnormal pinna morphology	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:280
1487	CTBP1	HP:0005264	Abnormality of the gallbladder	HP:0040283	ORPHA:280
1487	CTBP1	HP:0002948	Vertebral fusion	-	OMIM:194190
1487	CTBP1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:280
1487	CTBP1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:280
1487	CTBP1	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:280
1487	CTBP1	HP:0000348	High forehead	HP:0040281	ORPHA:280
1487	CTBP1	HP:0000348	High forehead	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000347	Micrognathia	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000347	Micrognathia	HP:0040281	ORPHA:280
1487	CTBP1	HP:0000316	Hypertelorism	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:280
1487	CTBP1	HP:0002974	Radioulnar synostosis	-	OMIM:194190
1487	CTBP1	HP:0001654	Abnormal heart valve morphology	HP:0040282	ORPHA:280
1487	CTBP1	HP:0000322	Short philtrum	HP:0040281	ORPHA:280
1487	CTBP1	HP:0000322	Short philtrum	HP:0040282	OMIM:194190
1487	CTBP1	HP:0001629	Ventricular septal defect	-	OMIM:194190
1487	CTBP1	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:280
1487	CTBP1	HP:0001631	Atrial septal defect	27%	OMIM:194190
1487	CTBP1	HP:0006655	Rib segmentation abnormalities	HP:0040282	ORPHA:280
1487	CTBP1	HP:0006655	Rib segmentation abnormalities	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000407	Sensorineural hearing impairment	15%	OMIM:194190
1487	CTBP1	HP:0000405	Conductive hearing impairment	40%	OMIM:194190
1487	CTBP1	HP:0000402	Stenosis of the external auditory canal	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000486	Strabismus	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000486	Strabismus	HP:0040283	ORPHA:280
1487	CTBP1	HP:0000485	Megalocornea	HP:0040283	ORPHA:280
1487	CTBP1	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:280
1487	CTBP1	HP:0000490	Deeply set eye	1/4	OMIM:617915
1487	CTBP1	HP:0000488	Retinopathy	HP:0040283	ORPHA:280
1487	CTBP1	HP:0000465	Webbed neck	HP:0040283	OMIM:194190
1487	CTBP1	HP:0000444	Convex nasal ridge	HP:0040282	OMIM:194190
1487	CTBP1	HP:0001747	Accessory spleen	-	OMIM:194190
1487	CTBP1	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:280
1487	CTBP1	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:280
1487	CTBP1	HP:0001762	Talipes equinovarus	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:280
1487	CTBP1	HP:0000431	Wide nasal bridge	HP:0040282	OMIM:194190
1487	CTBP1	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040282	ORPHA:280
1487	CTBP1	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040283	ORPHA:280
1487	CTBP1	HP:0001841	Preaxial foot polydactyly	HP:0040283	OMIM:194190
1487	CTBP1	HP:0001840	Metatarsus adductus	-	OMIM:194190
1487	CTBP1	HP:0000520	Proptosis	HP:0040283	ORPHA:280
1487	CTBP1	HP:0000520	Proptosis	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000508	Ptosis	HP:0040282	OMIM:194190
1487	CTBP1	HP:0000508	Ptosis	HP:0040282	ORPHA:280
1487	CTBP1	HP:0000501	Glaucoma	HP:0040283	ORPHA:280
1487	CTBP1	HP:0001812	Hyperconvex fingernails	-	OMIM:194190
1487	CTBP1	HP:0000558	Rieger anomaly	HP:0040282	OMIM:194190
1490	CCN2	HP:0100958	Narrow foramen obturatorium	HP:0040281	ORPHA:220393
1490	CCN2	HP:0100958	Narrow foramen obturatorium	HP:0040281	ORPHA:220402
1490	CCN2	HP:0003865	Bowed humerus	-	OMIM:211350
1490	CCN2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:220393
1490	CCN2	HP:0001376	Limitation of joint mobility	-	OMIM:211350
1490	CCN2	HP:0001371	Flexion contracture	HP:0040282	ORPHA:220393
1490	CCN2	HP:0001369	Arthritis	HP:0040282	ORPHA:220393
1490	CCN2	HP:0001324	Muscle weakness	HP:0040282	ORPHA:220393
1490	CCN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:211350
1490	CCN2	HP:0000175	Cleft palate	-	OMIM:211350
1490	CCN2	HP:0002797	Osteolysis	HP:0040282	ORPHA:220393
1490	CCN2	HP:0005009	Dumbbell-shaped humerus	-	OMIM:211350
1490	CCN2	HP:0002024	Malabsorption	HP:0040282	ORPHA:220393
1490	CCN2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220402
1490	CCN2	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:220393
1490	CCN2	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:220402
1490	CCN2	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:220393
1490	CCN2	HP:0002015	Dysphagia	HP:0040282	ORPHA:220402
1490	CCN2	HP:0002015	Dysphagia	HP:0040282	ORPHA:220393
1490	CCN2	HP:0002094	Dyspnea	HP:0040281	ORPHA:220393
1490	CCN2	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:220402
1490	CCN2	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:220393
1490	CCN2	HP:0100520	Oliguria	HP:0040281	ORPHA:220393
1490	CCN2	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:220402
1490	CCN2	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:220393
1490	CCN2	HP:0100579	Mucosal telangiectasiae	HP:0040282	ORPHA:220402
1490	CCN2	HP:0009473	Joint contracture of the hand	HP:0040283	ORPHA:220402
1490	CCN2	HP:0002113	Pulmonary infiltrates	HP:0040281	ORPHA:220393
1490	CCN2	HP:0003498	Disproportionate short stature	-	OMIM:211350
1490	CCN2	HP:0010561	Undulate ribs	-	OMIM:211350
1490	CCN2	HP:0002206	Pulmonary fibrosis	HP:0040283	ORPHA:220402
1490	CCN2	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:220393
1490	CCN2	HP:0100735	Hypertensive crisis	HP:0040283	ORPHA:220393
1490	CCN2	HP:0008366	Foot joint contracture	HP:0040283	ORPHA:220402
1490	CCN2	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:220402
1490	CCN2	HP:0001059	Pterygium	-	OMIM:211350
1490	CCN2	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:220402
1490	CCN2	HP:0200042	Skin ulcer	HP:0040282	ORPHA:220402
1490	CCN2	HP:0200042	Skin ulcer	HP:0040282	ORPHA:220393
1490	CCN2	HP:0010049	Short metacarpal	-	OMIM:211350
1490	CCN2	HP:0000670	Carious teeth	HP:0040282	ORPHA:220393
1490	CCN2	HP:0003031	Ulnar bowing	-	OMIM:211350
1490	CCN2	HP:0003015	Flared metaphysis	-	OMIM:211350
1490	CCN2	HP:0000926	Platyspondyly	-	OMIM:211350
1490	CCN2	HP:0003180	Flat acetabular roof	-	OMIM:211350
1490	CCN2	HP:0000907	Anterior rib cupping	-	OMIM:211350
1490	CCN2	HP:0005792	Short humerus	-	OMIM:211350
1490	CCN2	HP:0003097	Short femur	-	OMIM:211350
1490	CCN2	HP:0000895	Lateral clavicle hook	-	OMIM:211350
1490	CCN2	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:220402
1490	CCN2	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:220393
1490	CCN2	HP:0002829	Arthralgia	HP:0040282	ORPHA:220393
1490	CCN2	HP:0000217	Xerostomia	HP:0040282	ORPHA:220393
1490	CCN2	HP:0030016	Dyspareunia	HP:0040282	ORPHA:220393
1490	CCN2	HP:0000204	Cleft upper lip	-	OMIM:211350
1490	CCN2	HP:0012368	Flat face	-	OMIM:211350
1490	CCN2	HP:0005257	Thoracic hypoplasia	-	OMIM:211350
1490	CCN2	HP:0000369	Low-set ears	-	OMIM:211350
1490	CCN2	HP:0000348	High forehead	-	OMIM:211350
1490	CCN2	HP:0000347	Micrognathia	-	OMIM:211350
1490	CCN2	HP:0002982	Tibial bowing	-	OMIM:211350
1490	CCN2	HP:0002983	Micromelia	-	OMIM:211350
1490	CCN2	HP:0002980	Femoral bowing	-	OMIM:211350
1490	CCN2	HP:0030142	Abnormal bowel sounds	HP:0040283	ORPHA:220393
1490	CCN2	HP:0002986	Radial bowing	-	OMIM:211350
1490	CCN2	HP:0002960	Autoimmunity	HP:0040281	ORPHA:220402
1490	CCN2	HP:0002960	Autoimmunity	HP:0040281	ORPHA:220393
1490	CCN2	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:220393
1490	CCN2	HP:0005280	Depressed nasal bridge	-	OMIM:211350
1490	CCN2	HP:0001762	Talipes equinovarus	-	OMIM:211350
1491	CTH	HP:0001250	Seizure	HP:0040282	ORPHA:212
1491	CTH	HP:0001249	Intellectual disability	HP:0040282	ORPHA:212
1491	CTH	HP:0000007	Autosomal recessive inheritance	-	OMIM:219500
1491	CTH	HP:0001337	Tremor	HP:0040283	ORPHA:212
1491	CTH	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:212
1491	CTH	HP:0003153	Cystathioninuria	-	OMIM:219500
1491	CTH	HP:0003153	Cystathioninuria	HP:0040280	ORPHA:212
1491	CTH	HP:0003286	Cystathioninemia	HP:0040282	ORPHA:212
1491	CTH	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:212
1491	CTH	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:212
1493	CTLA4	HP:0025144	Shivering	HP:0040283	ORPHA:3162
1493	CTLA4	HP:0025143	Chills	HP:0040283	ORPHA:3162
1493	CTLA4	HP:0003765	Psoriasiform dermatitis	3/14	OMIM:616100
1493	CTLA4	HP:0003765	Psoriasiform dermatitis	HP:0040283	ORPHA:436159
1493	CTLA4	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
1493	CTLA4	HP:0032216	Lymphocytic infiltration of the colorectal mucosa	-	OMIM:616100
1493	CTLA4	HP:0032216	Lymphocytic infiltration of the colorectal mucosa	HP:0040283	ORPHA:436159
1493	CTLA4	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
1493	CTLA4	HP:0033557	Anti-proteinase 3 antibody positivity	HP:0040282	ORPHA:900
1493	CTLA4	HP:0033559	Anti-myeloperoxidase antibody positivity	HP:0040282	ORPHA:900
1493	CTLA4	HP:0032230	Cytoplasmic antineutrophil antibody positivity	HP:0040282	ORPHA:900
1493	CTLA4	HP:0100806	Sepsis	HP:0040283	ORPHA:436159
1493	CTLA4	HP:0100806	Sepsis	10/128	OMIM:616100
1493	CTLA4	HP:0100820	Glomerulopathy	HP:0040281	ORPHA:900
1493	CTLA4	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
1493	CTLA4	HP:0001287	Meningitis	HP:0040283	ORPHA:900
1493	CTLA4	HP:0002582	Atrophic gastritis	8/133	OMIM:616100
1493	CTLA4	HP:0002582	Atrophic gastritis	HP:0040283	ORPHA:436159
1493	CTLA4	HP:0001250	Seizure	-	OMIM:152700
1493	CTLA4	HP:0001250	Seizure	HP:0040283	ORPHA:536
1493	CTLA4	HP:0001250	Seizure	HP:0040283	ORPHA:900
1493	CTLA4	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
1493	CTLA4	HP:0007400	Irregular hyperpigmentation	HP:0040283	ORPHA:3162
1493	CTLA4	HP:0007400	Irregular hyperpigmentation	HP:0040282	ORPHA:2584
1493	CTLA4	HP:0033608	Pulmonary nodule	HP:0040283	ORPHA:900
1493	CTLA4	HP:0003829	Typified by incomplete penetrance	-	OMIM:616100
1493	CTLA4	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:900
1493	CTLA4	HP:0000099	Glomerulonephritis	HP:0040282	ORPHA:900
1493	CTLA4	HP:0000093	Proteinuria	HP:0040282	ORPHA:900
1493	CTLA4	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
1493	CTLA4	HP:0000071	Ureteral stenosis	HP:0040283	ORPHA:900
1493	CTLA4	HP:0001369	Arthritis	HP:0040282	ORPHA:536
1493	CTLA4	HP:0001369	Arthritis	2/14	OMIM:616100
1493	CTLA4	HP:0001369	Arthritis	HP:0040282	ORPHA:900
1493	CTLA4	HP:0001369	Arthritis	-	OMIM:152700
1493	CTLA4	HP:0000024	Prostatitis	HP:0040283	ORPHA:900
1493	CTLA4	HP:0033834	Malaise	HP:0040281	ORPHA:536
1493	CTLA4	HP:0012085	Pyuria	HP:0040282	ORPHA:536
1493	CTLA4	HP:0007488	Diffuse skin atrophy	HP:0040283	ORPHA:2584
1493	CTLA4	HP:0033726	Lupus nephritis	700/1827	OMIM:152700
1493	CTLA4	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
1493	CTLA4	HP:0025300	Malar rash	-	OMIM:152700
1493	CTLA4	HP:0025300	Malar rash	HP:0040282	ORPHA:536
1493	CTLA4	HP:0002665	Lymphoma	HP:0040283	ORPHA:436159
1493	CTLA4	HP:0002665	Lymphoma	HP:0040281	ORPHA:3162
1493	CTLA4	HP:0002665	Lymphoma	HP:0040281	ORPHA:2584
1493	CTLA4	HP:0001337	Tremor	HP:0040283	ORPHA:3162
1493	CTLA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:152700
1493	CTLA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:616100
1493	CTLA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:140300
1493	CTLA4	HP:0002637	Cerebral ischemia	HP:0040281	ORPHA:900
1493	CTLA4	HP:0002633	Vasculitis	HP:0040281	ORPHA:900
1493	CTLA4	HP:0012192	Cutaneous T-cell lymphoma	HP:0040281	ORPHA:3162
1493	CTLA4	HP:0012192	Cutaneous T-cell lymphoma	HP:0040282	ORPHA:2584
1493	CTLA4	HP:0025475	Erythematous macule	HP:0040282	ORPHA:2584
1493	CTLA4	HP:0000163	Abnormal oral cavity morphology	HP:0040281	ORPHA:900
1493	CTLA4	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
1493	CTLA4	HP:0000123	Nephritis	-	OMIM:152700
1493	CTLA4	HP:0002783	Recurrent lower respiratory tract infections	HP:0040282	ORPHA:436159
1493	CTLA4	HP:0002783	Recurrent lower respiratory tract infections	48/131	OMIM:616100
1493	CTLA4	HP:0025420	Diffuse alveolar hemorrhage	HP:0040283	ORPHA:900
1493	CTLA4	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:436159
1493	CTLA4	HP:0002788	Recurrent upper respiratory tract infections	41/132	OMIM:616100
1493	CTLA4	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:900
1493	CTLA4	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:436159
1493	CTLA4	HP:0002716	Lymphadenopathy	43/130	OMIM:616100
1493	CTLA4	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:2584
1493	CTLA4	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
1493	CTLA4	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:3162
1493	CTLA4	HP:0002725	Systemic lupus erythematosus	-	OMIM:152700
1493	CTLA4	HP:0002720	Decreased circulating IgA concentration	HP:0040282	ORPHA:436159
1493	CTLA4	HP:0002720	Decreased circulating IgA concentration	53/119	OMIM:616100
1493	CTLA4	HP:0002721	Immunodeficiency	-	OMIM:616100
1493	CTLA4	HP:0002721	Immunodeficiency	HP:0040282	ORPHA:3162
1493	CTLA4	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:900
1493	CTLA4	HP:0002037	Inflammation of the large intestine	HP:0040283	ORPHA:436159
1493	CTLA4	HP:0002027	Abdominal pain	HP:0040282	ORPHA:900
1493	CTLA4	HP:0003326	Myalgia	HP:0040283	ORPHA:900
1493	CTLA4	HP:0002014	Diarrhea	HP:0040282	ORPHA:436159
1493	CTLA4	HP:0002014	Diarrhea	51/133	OMIM:616100
1493	CTLA4	HP:0100532	Scleritis	HP:0040282	ORPHA:900
1493	CTLA4	HP:0100533	Inflammatory abnormality of the eye	HP:0040282	ORPHA:900
1493	CTLA4	HP:0100539	Periorbital edema	HP:0040282	ORPHA:900
1493	CTLA4	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:900
1493	CTLA4	HP:0002090	Pneumonia	HP:0040282	ORPHA:436159
1493	CTLA4	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:900
1493	CTLA4	HP:0002069	Bilateral tonic-clonic seizure	HP:0040284	ORPHA:436159
1493	CTLA4	HP:0002072	Chorea	HP:0040284	ORPHA:536
1493	CTLA4	HP:0002045	Hypothermia	HP:0040283	ORPHA:3162
1493	CTLA4	HP:0002039	Anorexia	HP:0040281	ORPHA:536
1493	CTLA4	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
1493	CTLA4	HP:0002102	Pleuritis	-	OMIM:152700
1493	CTLA4	HP:0002102	Pleuritis	HP:0040283	ORPHA:900
1493	CTLA4	HP:0002103	Abnormal pleura morphology	HP:0040283	ORPHA:3162
1493	CTLA4	HP:0002113	Pulmonary infiltrates	HP:0040281	ORPHA:900
1493	CTLA4	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:436159
1493	CTLA4	HP:0002110	Bronchiectasis	20/124	OMIM:616100
1493	CTLA4	HP:0002105	Hemoptysis	HP:0040282	ORPHA:900
1493	CTLA4	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
1493	CTLA4	HP:0003493	Antinuclear antibody positivity	-	OMIM:152700
1493	CTLA4	HP:0033221	Increased CD4:CD8 ratio	HP:0040282	ORPHA:3162
1493	CTLA4	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:436159
1493	CTLA4	HP:0002240	Hepatomegaly	17/130	OMIM:616100
1493	CTLA4	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:3162
1493	CTLA4	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:2584
1493	CTLA4	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:900
1493	CTLA4	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:900
1493	CTLA4	HP:0002202	Pleural effusion	HP:0040283	ORPHA:900
1493	CTLA4	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:900
1493	CTLA4	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:900
1493	CTLA4	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:3162
1493	CTLA4	HP:0010701	Abnormal circulating immunoglobulin concentration	HP:0040283	ORPHA:3162
1493	CTLA4	HP:0100725	Lichenification	HP:0040281	ORPHA:3162
1493	CTLA4	HP:0100749	Chest pain	HP:0040282	ORPHA:900
1493	CTLA4	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
1493	CTLA4	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
1493	CTLA4	HP:0100758	Gangrene	HP:0040283	ORPHA:3162
1493	CTLA4	HP:0100758	Gangrene	HP:0040283	ORPHA:900
1493	CTLA4	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:2584
1493	CTLA4	HP:0001029	Poikiloderma	HP:0040282	ORPHA:2584
1493	CTLA4	HP:0001047	Atopic dermatitis	HP:0040282	ORPHA:436159
1493	CTLA4	HP:0001019	Erythroderma	HP:0040281	ORPHA:3162
1493	CTLA4	HP:0001019	Erythroderma	HP:0040283	ORPHA:2584
1493	CTLA4	HP:0002315	Headache	HP:0040283	ORPHA:900
1493	CTLA4	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:436159
1493	CTLA4	HP:0100646	Thyroiditis	HP:0040283	ORPHA:436159
1493	CTLA4	HP:0100653	Optic neuritis	HP:0040284	ORPHA:436159
1493	CTLA4	HP:0200035	Skin plaque	HP:0040281	ORPHA:2584
1493	CTLA4	HP:0200034	Papule	HP:0040282	ORPHA:900
1493	CTLA4	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
1493	CTLA4	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:900
1493	CTLA4	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:3162
1493	CTLA4	HP:0200042	Skin ulcer	HP:0040283	ORPHA:900
1493	CTLA4	HP:0200042	Skin ulcer	HP:0040283	ORPHA:2584
1493	CTLA4	HP:0010783	Erythema	HP:0040281	ORPHA:2584
1493	CTLA4	HP:0002301	Hemiplegia	HP:0040283	ORPHA:900
1493	CTLA4	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:900
1493	CTLA4	HP:0003613	Antiphospholipid antibody positivity	-	OMIM:152700
1493	CTLA4	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
1493	CTLA4	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:900
1493	CTLA4	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
1493	CTLA4	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
1493	CTLA4	HP:0005561	Abnormal bone marrow cell morphology	HP:0040283	ORPHA:2584
1493	CTLA4	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
1493	CTLA4	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
1493	CTLA4	HP:0001973	Autoimmune thrombocytopenia	HP:0040282	ORPHA:436159
1493	CTLA4	HP:0001973	Autoimmune thrombocytopenia	5/14	OMIM:616100
1493	CTLA4	HP:0001945	Fever	HP:0040281	ORPHA:536
1493	CTLA4	HP:0001945	Fever	HP:0040281	ORPHA:900
1493	CTLA4	HP:0001945	Fever	HP:0040284	ORPHA:2584
1493	CTLA4	HP:0001904	Autoimmune neutropenia	HP:0040283	ORPHA:436159
1493	CTLA4	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:900
1493	CTLA4	HP:0000656	Ectropion	HP:0040283	ORPHA:3162
1493	CTLA4	HP:0004315	Decreased circulating IgG concentration	HP:0040282	ORPHA:436159
1493	CTLA4	HP:0004315	Decreased circulating IgG concentration	42/116	OMIM:616100
1493	CTLA4	HP:0004332	Abnormal lymphocyte morphology	HP:0040281	ORPHA:3162
1493	CTLA4	HP:0004332	Abnormal lymphocyte morphology	HP:0040281	ORPHA:2584
1493	CTLA4	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:436159
1493	CTLA4	HP:0004313	Decreased circulating immunoglobulin concentration	65/120	OMIM:616100
1493	CTLA4	HP:0012735	Cough	HP:0040282	ORPHA:900
1493	CTLA4	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:900
1493	CTLA4	HP:0000716	Depression	HP:0040283	ORPHA:536
1493	CTLA4	HP:0034104	Anti-neutrophil elastase antibody positivity	HP:0040282	ORPHA:900
1493	CTLA4	HP:0000709	Psychosis	-	OMIM:152700
1493	CTLA4	HP:0000790	Hematuria	HP:0040282	ORPHA:536
1493	CTLA4	HP:0000790	Hematuria	HP:0040281	ORPHA:900
1493	CTLA4	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:900
1493	CTLA4	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
1493	CTLA4	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:900
1493	CTLA4	HP:0000872	Hashimoto thyroiditis	-	OMIM:140300
1493	CTLA4	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040282	ORPHA:900
1493	CTLA4	HP:0000822	Hypertension	HP:0040282	ORPHA:536
1493	CTLA4	HP:0000822	Hypertension	HP:0040283	ORPHA:900
1493	CTLA4	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
1493	CTLA4	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:3162
1493	CTLA4	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
1493	CTLA4	HP:0045073	Serositis	HP:0040283	ORPHA:536
1493	CTLA4	HP:0000979	Purpura	HP:0040283	ORPHA:900
1493	CTLA4	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
1493	CTLA4	HP:0000992	Cutaneous photosensitivity	-	OMIM:152700
1493	CTLA4	HP:0100280	Crohn's disease	7/132	OMIM:616100
1493	CTLA4	HP:0100280	Crohn's disease	HP:0040283	ORPHA:436159
1493	CTLA4	HP:0000989	Pruritus	HP:0040281	ORPHA:3162
1493	CTLA4	HP:0000989	Pruritus	HP:0040281	ORPHA:2584
1493	CTLA4	HP:0000988	Skin rash	HP:0040282	ORPHA:900
1493	CTLA4	HP:0000988	Skin rash	HP:0040281	ORPHA:2584
1493	CTLA4	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:3162
1493	CTLA4	HP:0000958	Dry skin	HP:0040281	ORPHA:2584
1493	CTLA4	HP:0000958	Dry skin	HP:0040281	ORPHA:3162
1493	CTLA4	HP:0000969	Edema	HP:0040283	ORPHA:3162
1493	CTLA4	HP:0000969	Edema	HP:0040283	ORPHA:2584
1493	CTLA4	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:436159
1493	CTLA4	HP:0000964	Eczematoid dermatitis	1/6	OMIM:616100
1493	CTLA4	HP:0000964	Eczematoid dermatitis	HP:0040281	ORPHA:2584
1493	CTLA4	HP:0000962	Hyperkeratosis	HP:0040283	ORPHA:2584
1493	CTLA4	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
1493	CTLA4	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
1493	CTLA4	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:3162
1493	CTLA4	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:2584
1493	CTLA4	HP:0011675	Arrhythmia	HP:0040283	ORPHA:900
1493	CTLA4	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:2584
1493	CTLA4	HP:0001596	Alopecia	HP:0040282	ORPHA:2584
1493	CTLA4	HP:0001596	Alopecia	HP:0040282	ORPHA:536
1493	CTLA4	HP:0001596	Alopecia	HP:0040282	ORPHA:3162
1493	CTLA4	HP:0030057	Autoimmune antibody positivity	-	OMIM:140300
1493	CTLA4	HP:0002829	Arthralgia	HP:0040281	ORPHA:900
1493	CTLA4	HP:0000246	Sinusitis	HP:0040281	ORPHA:900
1493	CTLA4	HP:0002850	Decreased circulating total IgM	HP:0040282	ORPHA:436159
1493	CTLA4	HP:0002850	Decreased circulating total IgM	30/118	OMIM:616100
1493	CTLA4	HP:0002843	Abnormal T cell morphology	HP:0040281	ORPHA:3162
1493	CTLA4	HP:0001510	Growth delay	HP:0040283	ORPHA:436159
1493	CTLA4	HP:0006510	Chronic pulmonary obstruction	HP:0040282	ORPHA:900
1493	CTLA4	HP:0012393	Allergy	2/6	OMIM:616100
1493	CTLA4	HP:0012378	Fatigue	HP:0040281	ORPHA:900
1493	CTLA4	HP:0012378	Fatigue	HP:0040281	ORPHA:536
1493	CTLA4	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:900
1493	CTLA4	HP:0000388	Otitis media	HP:0040281	ORPHA:900
1493	CTLA4	HP:0005214	Intestinal obstruction	HP:0040283	ORPHA:900
1493	CTLA4	HP:0006535	Recurrent intrapulmonary hemorrhage	HP:0040282	ORPHA:900
1493	CTLA4	HP:0001607	Subglottic stenosis	HP:0040283	ORPHA:900
1493	CTLA4	HP:0000366	Abnormality of the nose	HP:0040281	ORPHA:900
1493	CTLA4	HP:0001681	Angina pectoris	HP:0040283	ORPHA:900
1493	CTLA4	HP:0002960	Autoimmunity	HP:0040281	ORPHA:900
1493	CTLA4	HP:0002955	Granulomatosis	HP:0040281	ORPHA:900
1493	CTLA4	HP:0030166	Night sweats	HP:0040284	ORPHA:2584
1493	CTLA4	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:900
1493	CTLA4	HP:0001733	Pancreatitis	HP:0040283	ORPHA:900
1493	CTLA4	HP:0001701	Pericarditis	HP:0040283	ORPHA:900
1493	CTLA4	HP:0001701	Pericarditis	-	OMIM:152700
1493	CTLA4	HP:0000491	Keratitis	HP:0040283	ORPHA:900
1493	CTLA4	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:2584
1493	CTLA4	HP:0000488	Retinopathy	HP:0040283	ORPHA:900
1493	CTLA4	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
1493	CTLA4	HP:0012410	Pure red cell aplasia	HP:0040284	ORPHA:436159
1493	CTLA4	HP:0001744	Splenomegaly	HP:0040282	ORPHA:436159
1493	CTLA4	HP:0001744	Splenomegaly	6/12	OMIM:616100
1493	CTLA4	HP:0001744	Splenomegaly	HP:0040282	ORPHA:3162
1493	CTLA4	HP:0001744	Splenomegaly	HP:0040283	ORPHA:2584
1493	CTLA4	HP:0000421	Epistaxis	HP:0040281	ORPHA:900
1493	CTLA4	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
1493	CTLA4	HP:0005401	Recurrent candida infections	HP:0040283	ORPHA:436159
1493	CTLA4	HP:0000520	Proptosis	HP:0040283	ORPHA:900
1493	CTLA4	HP:0001824	Weight loss	HP:0040281	ORPHA:900
1493	CTLA4	HP:0001824	Weight loss	HP:0040284	ORPHA:2584
1493	CTLA4	HP:0001824	Weight loss	HP:0040281	ORPHA:536
1493	CTLA4	HP:0000505	Visual impairment	HP:0040283	ORPHA:900
1493	CTLA4	HP:0000579	Nasolacrimal duct obstruction	HP:0040282	ORPHA:900
1493	CTLA4	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:900
1493	CTLA4	HP:0001890	Autoimmune hemolytic anemia	HP:0040282	ORPHA:436159
1493	CTLA4	HP:0001890	Autoimmune hemolytic anemia	4/14	OMIM:616100
1493	CTLA4	HP:0001888	Decreased total lymphocyte count	18/19	OMIM:616100
1493	CTLA4	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
1493	CTLA4	HP:0001882	Decreased total leukocyte count	-	OMIM:152700
1493	CTLA4	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
1493	CTLA4	HP:0001878	Hemolytic anemia	-	OMIM:152700
1493	CTLA4	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
1493	CTLA4	HP:0001873	Thrombocytopenia	-	OMIM:152700
1495	CTNNA1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
1495	CTNNA1	HP:0002576	Intussusception	HP:0040283	OMIM:174900
1495	CTNNA1	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
1495	CTNNA1	HP:0001217	Clubbing	HP:0040283	OMIM:174900
1495	CTNNA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
1495	CTNNA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
1495	CTNNA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
1495	CTNNA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:608970
1495	CTNNA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
1495	CTNNA1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
1495	CTNNA1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
1495	CTNNA1	HP:0007663	Reduced visual acuity	6/9	OMIM:608970
1495	CTNNA1	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
1495	CTNNA1	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
1495	CTNNA1	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
1495	CTNNA1	HP:0003596	Middle age onset	7/9	OMIM:608970
1495	CTNNA1	HP:0003621	Juvenile onset	8/19	OMIM:180100
1495	CTNNA1	HP:0003621	Juvenile onset	1/9	OMIM:608970
1495	CTNNA1	HP:0001903	Anemia	HP:0040282	OMIM:174900
1495	CTNNA1	HP:0000662	Nyctalopia	26/28	OMIM:180100
1495	CTNNA1	HP:0003003	Colon cancer	20%	OMIM:174900
1495	CTNNA1	HP:0003003	Colon cancer	5/12	OMIM:608456
1495	CTNNA1	HP:0003073	Hypoalbuminemia	-	OMIM:174900
1495	CTNNA1	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
1495	CTNNA1	HP:0011463	Childhood onset	3/19	OMIM:180100
1495	CTNNA1	HP:0011462	Young adult onset	8/19	OMIM:180100
1495	CTNNA1	HP:0011462	Young adult onset	1/9	OMIM:608970
1495	CTNNA1	HP:0011510	Drusen	-	OMIM:608970
1495	CTNNA1	HP:0008001	Foveal hyperpigmentation	3/14	OMIM:608970
1495	CTNNA1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
1495	CTNNA1	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
1495	CTNNA1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
1495	CTNNA1	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
1495	CTNNA1	HP:0002900	Hypokalemia	-	OMIM:174900
1495	CTNNA1	HP:0007963	Pattern dystrophy of the retina	11/14	OMIM:608970
1495	CTNNA1	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
1495	CTNNA1	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
1495	CTNNA1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
1495	CTNNA1	HP:0000575	Scotoma	5/18	OMIM:180100
1495	CTNNA1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
1495	CTNNA1	HP:0000545	Myopia	-	OMIM:180100
1496	CTNNA2	HP:0010862	Delayed fine motor development	7/7	OMIM:618174
1496	CTNNA2	HP:0010864	Intellectual disability, severe	6/6	OMIM:618174
1496	CTNNA2	HP:0001276	Hypertonia	1/7	OMIM:618174
1496	CTNNA2	HP:0001250	Seizure	7/7	OMIM:618174
1496	CTNNA2	HP:0001252	Hypotonia	6/7	OMIM:618174
1496	CTNNA2	HP:0001251	Ataxia	2/3	OMIM:618174
1496	CTNNA2	HP:0002540	Inability to walk	7/7	OMIM:618174
1496	CTNNA2	HP:0002521	Hypsarrhythmia	1/7	OMIM:618174
1496	CTNNA2	HP:0002510	Spastic tetraplegia	4/7	OMIM:618174
1496	CTNNA2	HP:0001347	Hyperreflexia	6/7	OMIM:618174
1496	CTNNA2	HP:0001344	Absent speech	4/7	OMIM:618174
1496	CTNNA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618174
1496	CTNNA2	HP:0001302	Pachygyria	7/7	OMIM:618174
1496	CTNNA2	HP:0001321	Cerebellar hypoplasia	7/7	OMIM:618174
1496	CTNNA2	HP:0002089	Pulmonary hypoplasia	0/7	OMIM:618174
1496	CTNNA2	HP:0002079	Hypoplasia of the corpus callosum	5/5	OMIM:618174
1496	CTNNA2	HP:0002194	Delayed gross motor development	7/7	OMIM:618174
1496	CTNNA2	HP:0003593	Infantile onset	7/7	OMIM:618174
1496	CTNNA2	HP:0002365	Hypoplasia of the brainstem	1/7	OMIM:618174
1496	CTNNA2	HP:0002353	EEG abnormality	7/7	OMIM:618174
1496	CTNNA2	HP:0010819	Atonic seizure	6/7	OMIM:618174
1496	CTNNA2	HP:0000648	Optic atrophy	0/7	OMIM:618174
1496	CTNNA2	HP:0011344	Severe global developmental delay	7/7	OMIM:618174
1496	CTNNA2	HP:0004322	Short stature	0/7	OMIM:618174
1496	CTNNA2	HP:0000729	Autistic behavior	7/7	OMIM:618174
1496	CTNNA2	HP:0034295	Reduced cerebral white matter volume	6/6	OMIM:618174
1496	CTNNA2	HP:0000256	Macrocephaly	0/7	OMIM:618174
1496	CTNNA2	HP:0000238	Hydrocephalus	0/5	OMIM:618174
1496	CTNNA2	HP:0032794	Myoclonic seizure	3/7	OMIM:618174
1496	CTNNA2	HP:0012469	Infantile spasms	1/7	OMIM:618174
1496	CTNNA2	HP:0012434	Delayed early-childhood social milestone development	7/7	OMIM:618174
1496	CTNNA2	HP:0001776	Bilateral talipes equinovarus	1/7	OMIM:618174
1496	CTNNA2	HP:0005484	Secondary microcephaly	4/7	OMIM:618174
1497	CTNS	HP:0003774	Stage 5 chronic kidney disease	2/2	OMIM:219800
1497	CTNS	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:219900
1497	CTNS	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:411634
1497	CTNS	HP:0001250	Seizure	HP:0040284	ORPHA:411634
1497	CTNS	HP:0001249	Intellectual disability	0/17	OMIM:219800
1497	CTNS	HP:0001263	Global developmental delay	1/1	OMIM:219800
1497	CTNS	HP:0002514	Cerebral calcification	9/33	OMIM:219800
1497	CTNS	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:411629
1497	CTNS	HP:0000083	Renal insufficiency	28/38	OMIM:219800
1497	CTNS	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:411634
1497	CTNS	HP:0000093	Proteinuria	2/2	OMIM:219800
1497	CTNS	HP:0000093	Proteinuria	2/2	OMIM:219900
1497	CTNS	HP:0000093	Proteinuria	HP:0040282	ORPHA:411634
1497	CTNS	HP:0000026	Male hypogonadism	-	OMIM:219800
1497	CTNS	HP:0000007	Autosomal recessive inheritance	-	OMIM:219900
1497	CTNS	HP:0000007	Autosomal recessive inheritance	-	OMIM:219800
1497	CTNS	HP:0000007	Autosomal recessive inheritance	-	OMIM:219750
1497	CTNS	HP:0007663	Reduced visual acuity	-	OMIM:219800
1497	CTNS	HP:0000117	Renal phosphate wasting	HP:0040283	ORPHA:411634
1497	CTNS	HP:0000114	Proximal tubulopathy	HP:0040282	ORPHA:411634
1497	CTNS	HP:0000124	Renal tubular dysfunction	HP:0040281	ORPHA:411629
1497	CTNS	HP:0000103	Polyuria	9/14	OMIM:219800
1497	CTNS	HP:0002750	Delayed skeletal maturation	-	OMIM:219800
1497	CTNS	HP:0002750	Delayed skeletal maturation	HP:0040284	ORPHA:411634
1497	CTNS	HP:0002748	Rickets	13/15	OMIM:219800
1497	CTNS	HP:0002748	Rickets	HP:0040281	ORPHA:411629
1497	CTNS	HP:0002748	Rickets	-	OMIM:219900
1497	CTNS	HP:0003355	Aminoaciduria	1/1	OMIM:219800
1497	CTNS	HP:0003355	Aminoaciduria	HP:0040281	ORPHA:411629
1497	CTNS	HP:0003355	Aminoaciduria	HP:0040282	ORPHA:411634
1497	CTNS	HP:0002019	Constipation	HP:0040281	ORPHA:411629
1497	CTNS	HP:0003358	Elevated intracellular cystine	-	OMIM:219800
1497	CTNS	HP:0003358	Elevated intracellular cystine	2/2	OMIM:219900
1497	CTNS	HP:0002015	Dysphagia	-	OMIM:219800
1497	CTNS	HP:0002013	Vomiting	HP:0040281	ORPHA:411629
1497	CTNS	HP:0002013	Vomiting	HP:0040282	ORPHA:411634
1497	CTNS	HP:0002007	Frontal bossing	-	OMIM:219800
1497	CTNS	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:411629
1497	CTNS	HP:0002059	Cerebral atrophy	-	OMIM:219800
1497	CTNS	HP:0100512	Decreased circulating vitamin D concentration	HP:0040283	ORPHA:411634
1497	CTNS	HP:0100511	Abnormality of vitamin D metabolism	HP:0040281	ORPHA:411629
1497	CTNS	HP:0003472	Hypocalcemic tetany	HP:0040284	ORPHA:411634
1497	CTNS	HP:0002148	Hypophosphatemia	1/1	OMIM:219800
1497	CTNS	HP:0002148	Hypophosphatemia	HP:0040281	ORPHA:411629
1497	CTNS	HP:0002148	Hypophosphatemia	HP:0040283	ORPHA:411634
1497	CTNS	HP:0003593	Infantile onset	18/18	OMIM:219800
1497	CTNS	HP:0002240	Hepatomegaly	-	OMIM:219800
1497	CTNS	HP:0003537	Hypouricemia	HP:0040283	ORPHA:411634
1497	CTNS	HP:0010639	Elevated alkaline phosphatase of bone origin	HP:0040283	ORPHA:411634
1497	CTNS	HP:0011968	Feeding difficulties	HP:0040284	ORPHA:411634
1497	CTNS	HP:0002344	Progressive neurologic deterioration	-	OMIM:219800
1497	CTNS	HP:0001010	Hypopigmentation of the skin	2/2	OMIM:219800
1497	CTNS	HP:0200026	Ocular pain	HP:0040282	ORPHA:411634
1497	CTNS	HP:0003621	Juvenile onset	2/2	OMIM:219900
1497	CTNS	HP:0003621	Juvenile onset	2/4	OMIM:219750
1497	CTNS	HP:0004918	Hyperchloremic metabolic acidosis	HP:0040281	ORPHA:411629
1497	CTNS	HP:0004912	Hypophosphatemic rickets	2/3	OMIM:219800
1497	CTNS	HP:0004911	Episodic metabolic acidosis	-	OMIM:219800
1497	CTNS	HP:0005599	Hypopigmentation of hair	2/2	OMIM:219800
1497	CTNS	HP:0012622	Chronic kidney disease	HP:0040283	ORPHA:411634
1497	CTNS	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040281	ORPHA:411629
1497	CTNS	HP:0000618	Blindness	0/23	OMIM:219800
1497	CTNS	HP:0000613	Photophobia	-	OMIM:219800
1497	CTNS	HP:0000613	Photophobia	3/4	OMIM:219750
1497	CTNS	HP:0000613	Photophobia	HP:0040281	ORPHA:411629
1497	CTNS	HP:0000613	Photophobia	2/2	OMIM:219900
1497	CTNS	HP:0000613	Photophobia	HP:0040281	ORPHA:411641
1497	CTNS	HP:0000613	Photophobia	HP:0040282	ORPHA:411634
1497	CTNS	HP:0001944	Dehydration	2/2	OMIM:219800
1497	CTNS	HP:0001944	Dehydration	HP:0040281	ORPHA:411629
1497	CTNS	HP:0001944	Dehydration	HP:0040284	ORPHA:411634
1497	CTNS	HP:0001942	Metabolic acidosis	11/18	OMIM:219800
1497	CTNS	HP:0001942	Metabolic acidosis	HP:0040284	ORPHA:411634
1497	CTNS	HP:0001941	Acidosis	HP:0040281	ORPHA:411629
1497	CTNS	HP:6001033	Bone marrow cystine accumulation	10/10	OMIM:219800
1497	CTNS	HP:6001032	Hepatic cystine accumulation	-	OMIM:219800
1497	CTNS	HP:6001031	Cystine nephrolithiasis	-	OMIM:219800
1497	CTNS	HP:0001959	Polydipsia	8/13	OMIM:219800
1497	CTNS	HP:0001959	Polydipsia	HP:0040281	ORPHA:411629
1497	CTNS	HP:0001959	Polydipsia	HP:0040283	ORPHA:411634
1497	CTNS	HP:0011314	Abnormal long bone morphology	HP:0040284	ORPHA:411634
1497	CTNS	HP:0001994	Renal Fanconi syndrome	14/15	OMIM:219800
1497	CTNS	HP:0001994	Renal Fanconi syndrome	HP:0040282	ORPHA:411634
1497	CTNS	HP:0001994	Renal Fanconi syndrome	HP:0040281	ORPHA:411629
1497	CTNS	HP:0004322	Short stature	15/15	OMIM:219800
1497	CTNS	HP:0031969	Reduced blood urea nitrogen	2/2	OMIM:219800
1497	CTNS	HP:0003076	Glycosuria	3/3	OMIM:219800
1497	CTNS	HP:0003076	Glycosuria	HP:0040281	ORPHA:411629
1497	CTNS	HP:0003076	Glycosuria	HP:0040282	ORPHA:411634
1497	CTNS	HP:0004396	Poor appetite	HP:0040283	ORPHA:411634
1497	CTNS	HP:0003016	Metaphyseal widening	-	OMIM:219800
1497	CTNS	HP:0011462	Young adult onset	2/4	OMIM:219750
1497	CTNS	HP:0000790	Hematuria	2/2	OMIM:219800
1497	CTNS	HP:0000787	Nephrolithiasis	2/2	OMIM:219800
1497	CTNS	HP:0003111	Abnormal blood ion concentration	HP:0040281	ORPHA:411629
1497	CTNS	HP:0003109	Hyperphosphaturia	3/3	OMIM:219800
1497	CTNS	HP:0003109	Hyperphosphaturia	HP:0040281	ORPHA:411629
1497	CTNS	HP:0003126	Low-molecular-weight proteinuria	1/1	OMIM:219800
1497	CTNS	HP:0003126	Low-molecular-weight proteinuria	HP:0040282	ORPHA:411634
1497	CTNS	HP:0003126	Low-molecular-weight proteinuria	HP:0040281	ORPHA:411629
1497	CTNS	HP:0003198	Myopathy	22/86	OMIM:219800
1497	CTNS	HP:0000832	Primary hypothyroidism	4/15	OMIM:219800
1497	CTNS	HP:0000819	Diabetes mellitus	6/13	OMIM:219800
1497	CTNS	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:411634
1497	CTNS	HP:0000823	Delayed puberty	-	OMIM:219800
1497	CTNS	HP:0000897	Rachitic rosary	-	OMIM:219800
1497	CTNS	HP:0003234	Decreased circulating carnitine concentration	-	OMIM:219800
1497	CTNS	HP:0003202	Skeletal muscle atrophy	-	OMIM:219800
1497	CTNS	HP:0003251	Male infertility	-	OMIM:219800
1497	CTNS	HP:0003259	Elevated circulating creatinine concentration	0/4	OMIM:219750
1497	CTNS	HP:0003259	Elevated circulating creatinine concentration	HP:0040283	ORPHA:411634
1497	CTNS	HP:0000966	Hypohidrosis	-	OMIM:219800
1497	CTNS	HP:0032639	Elevated leukocyte cystine	HP:0040281	ORPHA:411641
1497	CTNS	HP:0032639	Elevated leukocyte cystine	15/15	OMIM:219800
1497	CTNS	HP:0032639	Elevated leukocyte cystine	HP:0040283	ORPHA:411634
1497	CTNS	HP:0032639	Elevated leukocyte cystine	4/4	OMIM:219750
1497	CTNS	HP:0001531	Failure to thrive in infancy	2/2	OMIM:219800
1497	CTNS	HP:0002857	Genu valgum	-	OMIM:219800
1497	CTNS	HP:0001508	Failure to thrive	19/23	OMIM:219800
1497	CTNS	HP:0001508	Failure to thrive	HP:0040281	ORPHA:411629
1497	CTNS	HP:0001508	Failure to thrive	HP:0040284	ORPHA:411634
1497	CTNS	HP:0001507	Growth abnormality	-	OMIM:219900
1497	CTNS	HP:0001510	Growth delay	10/13	OMIM:219800
1497	CTNS	HP:0001510	Growth delay	HP:0040281	ORPHA:411629
1497	CTNS	HP:0001510	Growth delay	HP:0040283	ORPHA:411634
1497	CTNS	HP:0007814	Retinal pigment epithelial mottling	-	OMIM:219800
1497	CTNS	HP:0007814	Retinal pigment epithelial mottling	-	OMIM:219900
1497	CTNS	HP:0030190	Oral motor hypotonia	-	OMIM:219800
1497	CTNS	HP:0002917	Hypomagnesemia	2/2	OMIM:219800
1497	CTNS	HP:0002926	Abnormality of thyroid physiology	HP:0040282	ORPHA:411629
1497	CTNS	HP:0002909	Generalized aminoaciduria	-	OMIM:219800
1497	CTNS	HP:0002907	Microscopic hematuria	-	OMIM:219800
1497	CTNS	HP:0002907	Microscopic hematuria	HP:0040283	ORPHA:411634
1497	CTNS	HP:0002902	Hyponatremia	2/2	OMIM:219800
1497	CTNS	HP:0002902	Hyponatremia	HP:0040283	ORPHA:411634
1497	CTNS	HP:0002900	Hypokalemia	3/3	OMIM:219800
1497	CTNS	HP:0002900	Hypokalemia	HP:0040281	ORPHA:411629
1497	CTNS	HP:0002900	Hypokalemia	HP:0040283	ORPHA:411634
1497	CTNS	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:411634
1497	CTNS	HP:0001738	Exocrine pancreatic insufficiency	-	OMIM:219800
1497	CTNS	HP:0000481	Abnormal cornea morphology	HP:0040281	ORPHA:411634
1497	CTNS	HP:0000481	Abnormal cornea morphology	HP:0040282	ORPHA:411629
1497	CTNS	HP:0000479	Abnormal retinal morphology	0/4	OMIM:219750
1497	CTNS	HP:0000495	Recurrent corneal erosions	-	OMIM:219800
1497	CTNS	HP:0000488	Retinopathy	-	OMIM:219800
1497	CTNS	HP:0000488	Retinopathy	-	OMIM:219900
1497	CTNS	HP:0011106	Hypovolemia	HP:0040284	ORPHA:411634
1497	CTNS	HP:0012408	Medullary nephrocalcinosis	1/1	OMIM:219800
1497	CTNS	HP:0001744	Splenomegaly	-	OMIM:219800
1497	CTNS	HP:0012598	Abnormal urine potassium concentration	HP:0040283	ORPHA:411634
1497	CTNS	HP:0001824	Weight loss	1/1	OMIM:219800
1497	CTNS	HP:0000505	Visual impairment	-	OMIM:219800
1497	CTNS	HP:0000505	Visual impairment	HP:0040281	ORPHA:411641
1497	CTNS	HP:0000580	Pigmentary retinopathy	-	OMIM:219800
1497	CTNS	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:411629
1497	CTNS	HP:0000531	Corneal crystals	HP:0040281	ORPHA:411641
1497	CTNS	HP:0000531	Corneal crystals	187/187	OMIM:219800
1497	CTNS	HP:0000531	Corneal crystals	2/2	OMIM:219900
1497	CTNS	HP:0000531	Corneal crystals	HP:0040282	ORPHA:411634
1497	CTNS	HP:0000531	Corneal crystals	HP:0040281	ORPHA:411629
1497	CTNS	HP:0000531	Corneal crystals	4/4	OMIM:219750
1499	CTNNB1	HP:0025134	Increased serum estradiol	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:952
1499	CTNNB1	HP:0002465	Poor speech	HP:0040281	ORPHA:404473
1499	CTNNB1	HP:0001141	Severely reduced visual acuity	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0001117	Sudden loss of visual acuity	HP:0040284	ORPHA:54595
1499	CTNNB1	HP:0010935	Abnormality of the upper urinary tract	HP:0040283	ORPHA:873
1499	CTNNB1	HP:0010939	Abnormal nasal bone morphology	HP:0040284	ORPHA:54595
1499	CTNNB1	HP:0025160	Abnormal temper tantrums	HP:0040283	ORPHA:404473
1499	CTNNB1	HP:0033559	Anti-myeloperoxidase antibody positivity	HP:0040284	ORPHA:91414
1499	CTNNB1	HP:0025269	Panic attack	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0100806	Sepsis	HP:0040283	ORPHA:873
1499	CTNNB1	HP:0001270	Motor delay	HP:0040281	ORPHA:404473
1499	CTNNB1	HP:0001270	Motor delay	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0100832	Vitreous floaters	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0001250	Seizure	HP:0040284	ORPHA:54595
1499	CTNNB1	HP:0001250	Seizure	HP:0040284	ORPHA:404473
1499	CTNNB1	HP:0001252	Hypotonia	3/4	OMIM:615075
1499	CTNNB1	HP:0001249	Intellectual disability	HP:0040284	ORPHA:54595
1499	CTNNB1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:404473
1499	CTNNB1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0001249	Intellectual disability	4/4	OMIM:615075
1499	CTNNB1	HP:0001264	Spastic diplegia	1/4	OMIM:615075
1499	CTNNB1	HP:0002591	Polyphagia	HP:0040283	ORPHA:54595
1499	CTNNB1	HP:0001263	Global developmental delay	HP:0040284	ORPHA:54595
1499	CTNNB1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0001263	Global developmental delay	4/4	OMIM:615075
1499	CTNNB1	HP:0001262	Excessive daytime somnolence	HP:0040282	ORPHA:54595
1499	CTNNB1	HP:0001257	Spasticity	HP:0040281	ORPHA:404473
1499	CTNNB1	HP:0001257	Spasticity	1/4	OMIM:615075
1499	CTNNB1	HP:0001259	Coma	HP:0040284	ORPHA:54595
1499	CTNNB1	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:952
1499	CTNNB1	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:54595
1499	CTNNB1	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0002514	Cerebral calcification	HP:0040281	ORPHA:54595
1499	CTNNB1	HP:0003829	Typified by incomplete penetrance	-	OMIM:155255
1499	CTNNB1	HP:0008808	High iliac wing	HP:0040281	ORPHA:2780
1499	CTNNB1	HP:0000080	Abnormality of reproductive system physiology	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0025380	Increased circulating androstenedione concentration	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0001395	Hepatic fibrosis	HP:0040281	ORPHA:33402
1499	CTNNB1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:54595
1499	CTNNB1	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:873
1499	CTNNB1	HP:0012030	Increased urinary cortisol level	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0025336	Delayed ability to sit	3/4	OMIM:615075
1499	CTNNB1	HP:0002684	Thickened calvaria	HP:0040281	ORPHA:2780
1499	CTNNB1	HP:0008897	Postnatal growth retardation	HP:0040284	ORPHA:54595
1499	CTNNB1	HP:0008818	Large iliac wing	HP:0040281	ORPHA:2780
1499	CTNNB1	HP:0001328	Specific learning disability	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:54595
1499	CTNNB1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:155255
1499	CTNNB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615075
1499	CTNNB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
1499	CTNNB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617572
1499	CTNNB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:167000
1499	CTNNB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:155255
1499	CTNNB1	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:54595
1499	CTNNB1	HP:0002650	Scoliosis	2/4	OMIM:615075
1499	CTNNB1	HP:0002650	Scoliosis	HP:0040282	ORPHA:2780
1499	CTNNB1	HP:0002605	Hepatic necrosis	HP:0040282	ORPHA:33402
1499	CTNNB1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:2780
1499	CTNNB1	HP:0000190	Abnormal oral frenulum morphology	HP:0040281	ORPHA:952
1499	CTNNB1	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:952
1499	CTNNB1	HP:0001493	Falciform retinal fold	HP:0040282	ORPHA:891
1499	CTNNB1	HP:0000176	Submucous cleft hard palate	HP:0040282	ORPHA:2780
1499	CTNNB1	HP:0000175	Cleft palate	HP:0040282	ORPHA:2780
1499	CTNNB1	HP:0025436	Elevated serum 11-deoxycortisol	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0000135	Hypogonadism	HP:0040282	ORPHA:54595
1499	CTNNB1	HP:0002797	Osteolysis	HP:0040283	ORPHA:873
1499	CTNNB1	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:873
1499	CTNNB1	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:91414
1499	CTNNB1	HP:0007685	Peripheral retinal avascularization	HP:0040281	ORPHA:891
1499	CTNNB1	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:891
1499	CTNNB1	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:952
1499	CTNNB1	HP:0410019	Epigastric pain	HP:0040282	ORPHA:33402
1499	CTNNB1	HP:0008936	Axial hypotonia	HP:0040281	ORPHA:404473
1499	CTNNB1	HP:0002705	High, narrow palate	HP:0040282	ORPHA:2780
1499	CTNNB1	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0006288	Advanced eruption of teeth	HP:0040281	ORPHA:952
1499	CTNNB1	HP:0006254	Elevated circulating alpha-fetoprotein concentration	HP:0040281	ORPHA:33402
1499	CTNNB1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:873
1499	CTNNB1	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
1499	CTNNB1	HP:0001442	Typified by somatic mosaicism	-	OMIM:114550
1499	CTNNB1	HP:0001442	Typified by somatic mosaicism	-	OMIM:155255
1499	CTNNB1	HP:0001442	Typified by somatic mosaicism	-	OMIM:167000
1499	CTNNB1	HP:0001442	Typified by somatic mosaicism	-	OMIM:132600
1499	CTNNB1	HP:0001402	Hepatocellular carcinoma	-	OMIM:114550
1499	CTNNB1	HP:0001413	Micronodular cirrhosis	-	OMIM:114550
1499	CTNNB1	HP:0002719	Recurrent infections	HP:0040284	ORPHA:54595
1499	CTNNB1	HP:0002024	Malabsorption	HP:0040282	ORPHA:873
1499	CTNNB1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:54595
1499	CTNNB1	HP:0002027	Abdominal pain	HP:0040281	ORPHA:33402
1499	CTNNB1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:873
1499	CTNNB1	HP:0003326	Myalgia	HP:0040282	ORPHA:873
1499	CTNNB1	HP:0002015	Dysphagia	1/4	OMIM:615075
1499	CTNNB1	HP:0002013	Vomiting	HP:0040282	ORPHA:33402
1499	CTNNB1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:2780
1499	CTNNB1	HP:0002006	Tessier cleft	HP:0040282	ORPHA:952
1499	CTNNB1	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:54595
1499	CTNNB1	HP:0003396	Syringomyelia	HP:0040283	ORPHA:404473
1499	CTNNB1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:404473
1499	CTNNB1	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:615075
1499	CTNNB1	HP:0011748	Adrenocorticotropic hormone deficiency	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0011750	Neoplasm of the anterior pituitary	HP:0040281	ORPHA:54595
1499	CTNNB1	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:54595
1499	CTNNB1	HP:0033128	Delayed ability to crawl	1/4	OMIM:615075
1499	CTNNB1	HP:0002144	Tethered cord	HP:0040283	ORPHA:404473
1499	CTNNB1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:404473
1499	CTNNB1	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0002188	Delayed CNS myelination	HP:0040283	ORPHA:404473
1499	CTNNB1	HP:0002191	Progressive spasticity	1/4	OMIM:615075
1499	CTNNB1	HP:0010557	Overlapping fingers	HP:0040282	ORPHA:952
1499	CTNNB1	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:54595
1499	CTNNB1	HP:0010535	Sleep apnea	HP:0040283	ORPHA:54595
1499	CTNNB1	HP:0010529	Echolalia	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0010576	Intracranial cystic lesion	HP:0040281	ORPHA:54595
1499	CTNNB1	HP:0003593	Infantile onset	1/4	OMIM:615075
1499	CTNNB1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:33402
1499	CTNNB1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:873
1499	CTNNB1	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:404473
1499	CTNNB1	HP:0009738	Abnormal antihelix morphology	HP:0040282	ORPHA:952
1499	CTNNB1	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:952
1499	CTNNB1	HP:0100797	Toenail dysplasia	HP:0040281	ORPHA:952
1499	CTNNB1	HP:0100749	Chest pain	HP:0040283	ORPHA:873
1499	CTNNB1	HP:0011968	Feeding difficulties	2/4	OMIM:615075
1499	CTNNB1	HP:0010628	Facial palsy	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0010614	Fibroma	HP:0040281	ORPHA:873
1499	CTNNB1	HP:0003510	Severe short stature	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0430000	Abnormal frontal bone morphology	HP:0040284	ORPHA:54595
1499	CTNNB1	HP:0003508	Proportionate short stature	HP:0040283	ORPHA:54595
1499	CTNNB1	HP:0003502	Mild short stature	HP:0040281	ORPHA:952
1499	CTNNB1	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:952
1499	CTNNB1	HP:0002381	Aphasia	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0001065	Striae distensae	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:54595
1499	CTNNB1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:404473
1499	CTNNB1	HP:0002376	Developmental regression	HP:0040282	ORPHA:404473
1499	CTNNB1	HP:0001004	Lymphedema	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0002321	Vertigo	HP:0040284	ORPHA:54595
1499	CTNNB1	HP:0002315	Headache	HP:0040282	ORPHA:54595
1499	CTNNB1	HP:0100670	Coarse metaphyseal trabecularization	HP:0040281	ORPHA:2780
1499	CTNNB1	HP:0200008	Intestinal polyposis	HP:0040282	ORPHA:873
1499	CTNNB1	HP:0100621	Dysgerminoma	-	OMIM:167000
1499	CTNNB1	HP:0001085	Papilledema	HP:0040282	ORPHA:54595
1499	CTNNB1	HP:0200055	Small hand	HP:0040282	ORPHA:952
1499	CTNNB1	HP:0010766	Ectopic calcification	HP:0040283	ORPHA:91414
1499	CTNNB1	HP:0009765	Low hanging columella	HP:0040283	ORPHA:404473
1499	CTNNB1	HP:0002300	Mutism	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0003623	Neonatal onset	3/4	OMIM:615075
1499	CTNNB1	HP:0003621	Juvenile onset	-	OMIM:617572
1499	CTNNB1	HP:0030503	Macular telangiectasia	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:952
1499	CTNNB1	HP:0030521	Bitemporal hemianopia	HP:0040282	ORPHA:54595
1499	CTNNB1	HP:0004298	Abnormality of the abdominal wall	HP:0040281	ORPHA:873
1499	CTNNB1	HP:0005584	Renal cell carcinoma	-	OMIM:114500
1499	CTNNB1	HP:0000639	Nystagmus	-	OMIM:617572
1499	CTNNB1	HP:0001962	Palpitations	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:54595
1499	CTNNB1	HP:0000648	Optic atrophy	HP:0040284	OMIM:615075
1499	CTNNB1	HP:0000618	Blindness	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0000698	Conical tooth	HP:0040281	ORPHA:952
1499	CTNNB1	HP:0030490	Exudative vitreoretinopathy	-	OMIM:617572
1499	CTNNB1	HP:0030490	Exudative vitreoretinopathy	HP:0040284	OMIM:615075
1499	CTNNB1	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:2780
1499	CTNNB1	HP:0030496	Macular exudate	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0000668	Hypodontia	HP:0040281	ORPHA:952
1499	CTNNB1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:404473
1499	CTNNB1	HP:0004324	Increased body weight	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0003002	Breast carcinoma	-	OMIM:167000
1499	CTNNB1	HP:0030666	Retinal neovascularization	HP:0040282	ORPHA:891
1499	CTNNB1	HP:0003011	Abnormality of the musculature	HP:0040281	ORPHA:873
1499	CTNNB1	HP:0031936	Delayed ability to walk	2/4	OMIM:615075
1499	CTNNB1	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0100014	Epiretinal membrane	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0000737	Irritability	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0000739	Anxiety	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0000742	Self-mutilation	1/4	OMIM:615075
1499	CTNNB1	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:404473
1499	CTNNB1	HP:0000718	Aggressive behavior	1/4	OMIM:615075
1499	CTNNB1	HP:0000711	Restlessness	1/4	OMIM:615075
1499	CTNNB1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:404473
1499	CTNNB1	HP:0000729	Autistic behavior	1/4	OMIM:615075
1499	CTNNB1	HP:0000708	Atypical behavior	HP:0040284	ORPHA:54595
1499	CTNNB1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:404473
1499	CTNNB1	HP:0030588	Abnormal visual field test	HP:0040282	ORPHA:54595
1499	CTNNB1	HP:0012795	Abnormal optic disc morphology	HP:0040282	ORPHA:891
1499	CTNNB1	HP:0011451	Primary microcephaly	4/4	OMIM:615075
1499	CTNNB1	HP:0011451	Primary microcephaly	HP:0040282	ORPHA:404473
1499	CTNNB1	HP:0003110	Abnormality of urine homeostasis	HP:0040283	ORPHA:1501
1499	CTNNB1	HP:0003118	Increased circulating cortisol level	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0011530	Retinal hole	-	OMIM:617572
1499	CTNNB1	HP:0000859	Increased circulating aldosterone concentration	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:54595
1499	CTNNB1	HP:0000863	Central diabetes insipidus	HP:0040282	ORPHA:54595
1499	CTNNB1	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0000822	Hypertension	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:54595
1499	CTNNB1	HP:0040049	Macular edema	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0040075	Hypopituitarism	HP:0040281	ORPHA:54595
1499	CTNNB1	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0000998	Hypertrichosis	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0000989	Pruritus	HP:0040284	ORPHA:91414
1499	CTNNB1	HP:0100245	Gastrointestinal desmoid tumor	HP:0040281	ORPHA:873
1499	CTNNB1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2780
1499	CTNNB1	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:873
1499	CTNNB1	HP:0008052	Retinal fold	-	OMIM:617572
1499	CTNNB1	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:873
1499	CTNNB1	HP:0012286	Abnormal hypothalamus morphology	HP:0040280	ORPHA:54595
1499	CTNNB1	HP:0012288	Neoplasm of head and neck	HP:0040281	ORPHA:91414
1499	CTNNB1	HP:0000286	Epicanthus	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0000278	Retrognathia	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:2780
1499	CTNNB1	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:2780
1499	CTNNB1	HP:0007773	Vitreoretinopathy	HP:0040280	ORPHA:891
1499	CTNNB1	HP:0002829	Arthralgia	HP:0040283	ORPHA:873
1499	CTNNB1	HP:0030078	Lung adenocarcinoma	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0012230	Rhegmatogenous retinal detachment	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0000239	Large fontanelles	HP:0040282	ORPHA:2780
1499	CTNNB1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:54595
1499	CTNNB1	HP:0000252	Microcephaly	HP:0040281	ORPHA:404473
1499	CTNNB1	HP:0000252	Microcephaly	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0000248	Brachycephaly	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:404473
1499	CTNNB1	HP:0000219	Thin upper lip vermilion	1/4	OMIM:615075
1499	CTNNB1	HP:0000218	High palate	-	OMIM:615075
1499	CTNNB1	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
1499	CTNNB1	HP:0001555	Asymmetry of the thorax	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0002885	Medulloblastoma	-	OMIM:155255
1499	CTNNB1	HP:0001500	Broad finger	1/4	OMIM:615075
1499	CTNNB1	HP:0001518	Small for gestational age	1/4	OMIM:615075
1499	CTNNB1	HP:0001510	Growth delay	HP:0040283	ORPHA:54595
1499	CTNNB1	HP:0001510	Growth delay	1/4	OMIM:615075
1499	CTNNB1	HP:0001513	Obesity	HP:0040282	ORPHA:54595
1499	CTNNB1	HP:0012378	Fatigue	HP:0040282	ORPHA:33402
1499	CTNNB1	HP:0031526	Subretinal fluid	HP:0040282	ORPHA:891
1499	CTNNB1	HP:0012368	Flat face	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0006572	Subacute progressive viral hepatitis	-	OMIM:114550
1499	CTNNB1	HP:0005214	Intestinal obstruction	HP:0040283	ORPHA:873
1499	CTNNB1	HP:0002900	Hypokalemia	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:54595
1499	CTNNB1	HP:0000365	Hearing impairment	HP:0040284	ORPHA:404473
1499	CTNNB1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0000369	Low-set ears	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0000343	Long philtrum	HP:0040283	ORPHA:404473
1499	CTNNB1	HP:0000343	Long philtrum	-	OMIM:615075
1499	CTNNB1	HP:0011002	Osteopetrosis	HP:0040281	ORPHA:2780
1499	CTNNB1	HP:0011001	Increased bone mineral density	HP:0040281	ORPHA:2780
1499	CTNNB1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0000347	Micrognathia	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:404473
1499	CTNNB1	HP:0001658	Myocardial infarction	HP:0040284	ORPHA:54595
1499	CTNNB1	HP:0007924	Slow decrease in visual acuity	HP:0040282	ORPHA:54595
1499	CTNNB1	HP:0007917	Tractional retinal detachment	HP:0040282	ORPHA:891
1499	CTNNB1	HP:0007902	Vitreous hemorrhage	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0007987	Progressive visual field defects	HP:0040282	ORPHA:54595
1499	CTNNB1	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:2780
1499	CTNNB1	HP:0000486	Strabismus	HP:0040283	ORPHA:404473
1499	CTNNB1	HP:0000486	Strabismus	1/4	OMIM:615075
1499	CTNNB1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:404473
1499	CTNNB1	HP:0001792	Small nail	HP:0040281	ORPHA:952
1499	CTNNB1	HP:0000455	Broad nasal tip	HP:0040283	ORPHA:404473
1499	CTNNB1	HP:0000455	Broad nasal tip	4/4	OMIM:615075
1499	CTNNB1	HP:0030242	Portal vein thrombosis	HP:0040282	ORPHA:33402
1499	CTNNB1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:2780
1499	CTNNB1	HP:0000430	Underdeveloped nasal alae	HP:0040283	ORPHA:404473
1499	CTNNB1	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
1499	CTNNB1	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
1499	CTNNB1	HP:0006744	Adrenocortical carcinoma	HP:0040280	ORPHA:1501
1499	CTNNB1	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
1499	CTNNB1	HP:0030434	Pilomatrixoma	HP:0040280	ORPHA:91414
1499	CTNNB1	HP:0030434	Pilomatrixoma	-	OMIM:132600
1499	CTNNB1	HP:0005469	Flat occiput	HP:0040282	ORPHA:2780
1499	CTNNB1	HP:0005465	Facial hyperostosis	HP:0040281	ORPHA:2780
1499	CTNNB1	HP:0006774	Ovarian papillary adenocarcinoma	-	OMIM:167000
1499	CTNNB1	HP:0012505	Enlarged pituitary gland	HP:0040281	ORPHA:54595
1499	CTNNB1	HP:0000518	Cataract	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0000518	Cataract	HP:0040283	ORPHA:2780
1499	CTNNB1	HP:0001824	Weight loss	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0001800	Hypoplastic toenails	HP:0040281	ORPHA:952
1499	CTNNB1	HP:0030348	Increased circulating androgen concentration	HP:0040282	ORPHA:1501
1499	CTNNB1	HP:0011220	Prominent forehead	HP:0040282	ORPHA:2780
1499	CTNNB1	HP:0000568	Microphthalmia	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0000541	Retinal detachment	-	OMIM:617572
1499	CTNNB1	HP:0000540	Hypermetropia	HP:0040283	ORPHA:404473
1499	CTNNB1	HP:0000540	Hypermetropia	1/4	OMIM:615075
1499	CTNNB1	HP:0000533	Chorioretinal atrophy	HP:0040283	ORPHA:891
1499	CTNNB1	HP:0000546	Retinal degeneration	-	OMIM:617572
1499	CTNNB1	HP:0000545	Myopia	HP:0040283	ORPHA:404473
1500	CTNND1	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:1997
1500	CTNND1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617681
1500	CTNND1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
1500	CTNND1	HP:0007651	Ectropion of lower eyelids	3/3	OMIM:617681
1500	CTNND1	HP:0007651	Ectropion of lower eyelids	HP:0040281	ORPHA:1997
1500	CTNND1	HP:0410030	Cleft lip	2/3	OMIM:617681
1500	CTNND1	HP:0002023	Anal atresia	HP:0040283	ORPHA:1997
1500	CTNND1	HP:0002164	Nail dysplasia	0/3	OMIM:617681
1500	CTNND1	HP:0009743	Distichiasis	2/3	OMIM:617681
1500	CTNND1	HP:0009743	Distichiasis	HP:0040281	ORPHA:1997
1500	CTNND1	HP:0009804	Tooth agenesis	3/3	OMIM:617681
1500	CTNND1	HP:0200040	Epidermoid cyst	HP:0040283	ORPHA:1997
1500	CTNND1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
1500	CTNND1	HP:0011362	Abnormal hair quantity	HP:0040283	ORPHA:1997
1500	CTNND1	HP:0000698	Conical tooth	3/3	OMIM:617681
1500	CTNND1	HP:0000698	Conical tooth	HP:0040282	ORPHA:1997
1500	CTNND1	HP:0000670	Carious teeth	HP:0040282	ORPHA:1997
1500	CTNND1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:617681
1500	CTNND1	HP:0012905	Euryblepharon	2/3	OMIM:617681
1500	CTNND1	HP:0012905	Euryblepharon	HP:0040282	ORPHA:1997
1500	CTNND1	HP:0004467	Preauricular pit	-	OMIM:187500
1500	CTNND1	HP:0100337	Bilateral cleft palate	HP:0040281	ORPHA:1997
1500	CTNND1	HP:0030001	Lagophthalmos	2/3	OMIM:617681
1500	CTNND1	HP:0012368	Flat face	-	OMIM:617681
1500	CTNND1	HP:0000337	Broad forehead	-	OMIM:187500
1500	CTNND1	HP:0000348	High forehead	-	OMIM:617681
1500	CTNND1	HP:0000316	Hypertelorism	-	OMIM:617681
1500	CTNND1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:1997
1500	CTNND1	HP:0000324	Facial asymmetry	HP:0040284	OMIM:617681
1500	CTNND1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
1500	CTNND1	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:1997
1500	CTNND1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:1997
1500	CTNND1	HP:0000492	Abnormal eyelid morphology	HP:0040281	ORPHA:1997
1500	CTNND1	HP:0000520	Proptosis	-	OMIM:187500
1500	CTNND1	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1997
1501	CTNND2	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:281
1501	CTNND2	HP:0001252	Hypotonia	HP:0040281	ORPHA:281
1501	CTNND2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:86814
1501	CTNND2	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:281
1501	CTNND2	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:86814
1501	CTNND2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:281
1501	CTNND2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:281
1501	CTNND2	HP:0001336	Myoclonus	HP:0040281	ORPHA:86814
1501	CTNND2	HP:0002650	Scoliosis	HP:0040282	ORPHA:281
1501	CTNND2	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:281
1501	CTNND2	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:86814
1501	CTNND2	HP:0002197	Generalized-onset seizure	HP:0040282	ORPHA:86814
1501	CTNND2	HP:0002378	Hand tremor	HP:0040281	ORPHA:86814
1501	CTNND2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:86814
1501	CTNND2	HP:0002315	Headache	HP:0040283	ORPHA:86814
1501	CTNND2	HP:0200046	Cat cry	HP:0040281	ORPHA:281
1501	CTNND2	HP:0200055	Small hand	HP:0040282	ORPHA:281
1501	CTNND2	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:281
1501	CTNND2	HP:0004322	Short stature	HP:0040282	ORPHA:281
1501	CTNND2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:281
1501	CTNND2	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:281
1501	CTNND2	HP:0000286	Epicanthus	HP:0040281	ORPHA:281
1501	CTNND2	HP:0000252	Microcephaly	HP:0040281	ORPHA:281
1501	CTNND2	HP:0000218	High palate	HP:0040282	ORPHA:281
1501	CTNND2	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:281
1501	CTNND2	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:281
1501	CTNND2	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:281
1501	CTNND2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:281
1501	CTNND2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:281
1501	CTNND2	HP:0000311	Round face	HP:0040281	ORPHA:281
1501	CTNND2	HP:0001620	Abnormally high-pitched voice	HP:0040281	ORPHA:281
1501	CTNND2	HP:0000308	Microretrognathia	HP:0040281	ORPHA:281
1501	CTNND2	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:281
1501	CTNND2	HP:0000470	Short neck	HP:0040282	ORPHA:281
1501	CTNND2	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:281
1503	CTPS1	HP:0032248	Persistent viremia	1/5	OMIM:615897
1503	CTPS1	HP:0410297	Partial absence of specific antibody response to tetanus vaccine	3/4	OMIM:615897
1503	CTPS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615897
1503	CTPS1	HP:0002721	Immunodeficiency	-	OMIM:615897
1503	CTPS1	HP:0033222	Inverted CD4:CD8 ratio	2/5	OMIM:615897
1503	CTPS1	HP:0008348	Decreased circulating IgG2 concentration	3/3	OMIM:615897
1503	CTPS1	HP:0011947	Respiratory tract infection	3/5	OMIM:615897
1503	CTPS1	HP:0032170	Severe varicella zoster infection	3/5	OMIM:615897
1503	CTPS1	HP:0005523	Lymphoproliferative disorder	1/5	OMIM:615897
1503	CTPS1	HP:4000039	Reduced mucosal-associated invariant T cell proportion	5/5	OMIM:615897
1503	CTPS1	HP:0004315	Decreased circulating IgG concentration	4/5	OMIM:615897
1503	CTPS1	HP:0004429	Recurrent viral infections	8/8	OMIM:615897
1503	CTPS1	HP:0031402	Reduced antigen-specific T cell proliferation	3/3	OMIM:615897
1503	CTPS1	HP:0031379	Abnormal T cell proliferation	1/4	OMIM:615897
1503	CTPS1	HP:0012476	Decreased specific pneumococcal antibody level	4/4	OMIM:615897
1503	CTPS1	HP:0031691	Severe viral infection	-	OMIM:615897
1503	CTPS1	HP:0030374	Decreased proportion of memory B cells	5/5	OMIM:615897
1503	CTPS1	HP:0001888	Decreased total lymphocyte count	-	OMIM:615897
1508	CTSB	HP:0007410	Palmoplantar hyperhidrosis	-	OMIM:148370
1508	CTSB	HP:0000006	Autosomal dominant inheritance	-	OMIM:148370
1508	CTSB	HP:0200039	Pustule	HP:0040283	ORPHA:50943
1508	CTSB	HP:0010783	Erythema	HP:0040281	ORPHA:50943
1508	CTSB	HP:0010783	Erythema	-	OMIM:148370
1508	CTSB	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:50943
1508	CTSB	HP:0000951	Abnormality of the skin	-	OMIM:148370
1509	CTSD	HP:0001171	Split hand	1/4	OMIM:610127
1509	CTSD	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
1509	CTSD	HP:0001105	Retinal atrophy	1/1	OMIM:610127
1509	CTSD	HP:0010864	Intellectual disability, severe	1/1	OMIM:610127
1509	CTSD	HP:0001272	Cerebellar atrophy	6/6	OMIM:610127
1509	CTSD	HP:0001268	Mental deterioration	6/6	OMIM:610127
1509	CTSD	HP:0001250	Seizure	3/4	OMIM:610127
1509	CTSD	HP:0001251	Ataxia	6/6	OMIM:610127
1509	CTSD	HP:0001257	Spasticity	3/4	OMIM:610127
1509	CTSD	HP:0002529	Neuronal loss in central nervous system	-	OMIM:610127
1509	CTSD	HP:0003811	Neonatal death	1/4	OMIM:610127
1509	CTSD	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
1509	CTSD	HP:0000007	Autosomal recessive inheritance	-	OMIM:610127
1509	CTSD	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
1509	CTSD	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
1509	CTSD	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
1509	CTSD	HP:0002093	Respiratory insufficiency	-	OMIM:610127
1509	CTSD	HP:0002063	Rigidity	-	OMIM:610127
1509	CTSD	HP:0003390	Sensory axonal neuropathy	2/5	OMIM:610127
1509	CTSD	HP:0002074	Increased neuronal autofluorescent lipopigment	-	OMIM:610127
1509	CTSD	HP:0002059	Cerebral atrophy	1/1	OMIM:610127
1509	CTSD	HP:0002133	Status epilepticus	-	OMIM:610127
1509	CTSD	HP:0002104	Apnea	4/4	OMIM:610127
1509	CTSD	HP:0003577	Congenital onset	4/4	OMIM:610127
1509	CTSD	HP:0003657	Vascular granular osmiophilic material deposition	2/5	OMIM:610127
1509	CTSD	HP:0003621	Juvenile onset	8/19	OMIM:180100
1509	CTSD	HP:0006887	Intellectual disability, progressive	-	OMIM:610127
1509	CTSD	HP:0000662	Nyctalopia	26/28	OMIM:180100
1509	CTSD	HP:0011463	Childhood onset	3/19	OMIM:180100
1509	CTSD	HP:0011463	Childhood onset	1/1	OMIM:610127
1509	CTSD	HP:0011462	Young adult onset	8/19	OMIM:180100
1509	CTSD	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
1509	CTSD	HP:0000252	Microcephaly	3/4	OMIM:610127
1509	CTSD	HP:0002878	Respiratory failure	1/4	OMIM:610127
1509	CTSD	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
1509	CTSD	HP:0000369	Low-set ears	3/4	OMIM:610127
1509	CTSD	HP:0000340	Sloping forehead	1/4	OMIM:610127
1509	CTSD	HP:0032794	Myoclonic seizure	1/4	OMIM:610127
1509	CTSD	HP:0000431	Wide nasal bridge	1/4	OMIM:610127
1509	CTSD	HP:0005458	Premature closure of fontanelles	-	OMIM:610127
1509	CTSD	HP:0000510	Rod-cone dystrophy	5/5	OMIM:610127
1509	CTSD	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
1509	CTSD	HP:0000575	Scotoma	5/18	OMIM:180100
1509	CTSD	HP:0000572	Visual loss	-	OMIM:610127
1509	CTSD	HP:0000543	Optic disc pallor	1/1	OMIM:180100
1509	CTSD	HP:0000545	Myopia	-	OMIM:180100
1512	CTSH	HP:0002494	Abnormal rapid eye movement sleep	HP:0040282	ORPHA:2073
1512	CTSH	HP:0025235	NREM parasomnia	HP:0040282	ORPHA:2073
1512	CTSH	HP:0025233	Sleep paralysis	HP:0040283	ORPHA:2073
1512	CTSH	HP:0001279	Syncope	HP:0040283	ORPHA:2073
1512	CTSH	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:2073
1512	CTSH	HP:0002519	Hypnagogic hallucination	HP:0040282	ORPHA:2073
1512	CTSH	HP:0002524	Cataplexy	HP:0040281	ORPHA:2073
1512	CTSH	HP:0001350	Slurred speech	HP:0040283	ORPHA:2073
1512	CTSH	HP:0000017	Nocturia	HP:0040282	ORPHA:2073
1512	CTSH	HP:0007686	Abnormal pupillary function	HP:0040282	ORPHA:2073
1512	CTSH	HP:0002019	Constipation	HP:0040282	ORPHA:2073
1512	CTSH	HP:0040307	Male sexual dysfunction	HP:0040282	ORPHA:2073
1512	CTSH	HP:0002076	Migraine	HP:0040283	ORPHA:2073
1512	CTSH	HP:0010535	Sleep apnea	HP:0040283	ORPHA:2073
1512	CTSH	HP:0010534	Transient global amnesia	HP:0040281	ORPHA:2073
1512	CTSH	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:2073
1512	CTSH	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:2073
1512	CTSH	HP:0002307	Drooling	HP:0040282	ORPHA:2073
1512	CTSH	HP:0006896	Hypnopompic hallucination	HP:0040282	ORPHA:2073
1512	CTSH	HP:0000738	Hallucinations	HP:0040281	ORPHA:2073
1512	CTSH	HP:0000739	Anxiety	HP:0040282	ORPHA:2073
1512	CTSH	HP:0000716	Depression	HP:0040283	ORPHA:2073
1512	CTSH	HP:0000711	Restlessness	HP:0040283	ORPHA:2073
1512	CTSH	HP:0000709	Psychosis	HP:0040284	ORPHA:2073
1512	CTSH	HP:0000826	Precocious puberty	HP:0040283	ORPHA:2073
1512	CTSH	HP:0000822	Hypertension	HP:0040282	ORPHA:2073
1512	CTSH	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:2073
1512	CTSH	HP:0030014	Female sexual dysfunction	HP:0040282	ORPHA:2073
1512	CTSH	HP:0001513	Obesity	HP:0040283	ORPHA:2073
1512	CTSH	HP:0012452	Restless legs	HP:0040282	ORPHA:2073
1513	CTSK	HP:0001156	Brachydactyly	-	OMIM:265800
1513	CTSK	HP:0001156	Brachydactyly	HP:0040281	ORPHA:763
1513	CTSK	HP:0002493	Upper motor neuron dysfunction	HP:0040284	ORPHA:763
1513	CTSK	HP:0008598	Mild conductive hearing impairment	HP:0040282	ORPHA:763
1513	CTSK	HP:0007266	Cerebral dysmyelination	HP:0040284	ORPHA:763
1513	CTSK	HP:0010884	Acromelia	HP:0040283	ORPHA:763
1513	CTSK	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1513	CTSK	HP:0001293	Cranial nerve compression	-	OMIM:131300
1513	CTSK	HP:0001252	Hypotonia	2/7	OMIM:615777
1513	CTSK	HP:0001249	Intellectual disability	5/7	OMIM:615777
1513	CTSK	HP:0001263	Global developmental delay	-	OMIM:615777
1513	CTSK	HP:0002515	Waddling gait	54/102	OMIM:131300
1513	CTSK	HP:0002516	Increased intracranial pressure	HP:0040284	ORPHA:763
1513	CTSK	HP:0001382	Joint hypermobility	HP:0040284	ORPHA:763
1513	CTSK	HP:0001382	Joint hypermobility	-	OMIM:615777
1513	CTSK	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1513	CTSK	HP:0002688	Absent frontal sinuses	-	OMIM:265800
1513	CTSK	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1513	CTSK	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:763
1513	CTSK	HP:0002659	Increased susceptibility to fractures	HP:0040282	ORPHA:763
1513	CTSK	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1513	CTSK	HP:0001324	Muscle weakness	40/96	OMIM:131300
1513	CTSK	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1513	CTSK	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1513	CTSK	HP:0000007	Autosomal recessive inheritance	-	OMIM:265800
1513	CTSK	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1513	CTSK	HP:0002650	Scoliosis	-	OMIM:265800
1513	CTSK	HP:0002650	Scoliosis	HP:0040283	ORPHA:763
1513	CTSK	HP:0002650	Scoliosis	12/14	OMIM:131300
1513	CTSK	HP:0002645	Wormian bones	-	OMIM:265800
1513	CTSK	HP:0002645	Wormian bones	HP:0040283	ORPHA:763
1513	CTSK	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1513	CTSK	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1513	CTSK	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1513	CTSK	HP:0000189	Narrow palate	-	OMIM:265800
1513	CTSK	HP:0008905	Rhizomelia	HP:0040283	ORPHA:763
1513	CTSK	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1513	CTSK	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:763
1513	CTSK	HP:0000175	Cleft palate	2/7	OMIM:615777
1513	CTSK	HP:0006335	Persistence of primary teeth	-	OMIM:265800
1513	CTSK	HP:0006335	Persistence of primary teeth	HP:0040283	ORPHA:763
1513	CTSK	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:763
1513	CTSK	HP:0001433	Hepatosplenomegaly	HP:0040284	ORPHA:763
1513	CTSK	HP:0002007	Frontal bossing	-	OMIM:265800
1513	CTSK	HP:0002007	Frontal bossing	HP:0040281	ORPHA:763
1513	CTSK	HP:0003307	Hyperlordosis	HP:0040284	ORPHA:763
1513	CTSK	HP:0003304	Spondylolysis	HP:0040283	ORPHA:763
1513	CTSK	HP:0003304	Spondylolysis	-	OMIM:265800
1513	CTSK	HP:0003302	Spondylolisthesis	-	OMIM:265800
1513	CTSK	HP:0003302	Spondylolisthesis	HP:0040283	ORPHA:763
1513	CTSK	HP:0011800	Midface retrusion	HP:0040282	ORPHA:763
1513	CTSK	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:763
1513	CTSK	HP:0003388	Easy fatigability	36/76	OMIM:131300
1513	CTSK	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1513	CTSK	HP:0005906	Delayed pneumatization of the mastoid process	HP:0040281	ORPHA:763
1513	CTSK	HP:0002164	Nail dysplasia	HP:0040283	ORPHA:763
1513	CTSK	HP:0003510	Severe short stature	7/7	OMIM:615777
1513	CTSK	HP:0002315	Headache	-	OMIM:131300
1513	CTSK	HP:0004976	Knee dislocation	6/7	OMIM:615777
1513	CTSK	HP:0009839	Osteolytic defects of the distal phalanges of the hand	HP:0040281	ORPHA:763
1513	CTSK	HP:0009839	Osteolytic defects of the distal phalanges of the hand	-	OMIM:265800
1513	CTSK	HP:0009803	Short phalanx of finger	-	OMIM:615777
1513	CTSK	HP:0200055	Small hand	HP:0040282	ORPHA:763
1513	CTSK	HP:0009763	Limb pain	63/92	OMIM:131300
1513	CTSK	HP:0002308	Chiari malformation	HP:0040284	ORPHA:763
1513	CTSK	HP:0003621	Juvenile onset	-	OMIM:131300
1513	CTSK	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1513	CTSK	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1513	CTSK	HP:6001056	Out-toeing	-	OMIM:131300
1513	CTSK	HP:0000651	Diplopia	-	OMIM:131300
1513	CTSK	HP:0001956	Truncal obesity	2/7	OMIM:615777
1513	CTSK	HP:0001903	Anemia	HP:0040283	OMIM:131300
1513	CTSK	HP:0010049	Short metacarpal	-	OMIM:615777
1513	CTSK	HP:0000696	Delayed eruption of permanent teeth	HP:0040283	ORPHA:763
1513	CTSK	HP:0000696	Delayed eruption of permanent teeth	-	OMIM:265800
1513	CTSK	HP:0000680	Delayed eruption of primary teeth	HP:0040283	ORPHA:763
1513	CTSK	HP:0000680	Delayed eruption of primary teeth	-	OMIM:265800
1513	CTSK	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:763
1513	CTSK	HP:0000678	Dental crowding	-	OMIM:615777
1513	CTSK	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:763
1513	CTSK	HP:0000670	Carious teeth	-	OMIM:265800
1513	CTSK	HP:0000670	Carious teeth	-	OMIM:131300
1513	CTSK	HP:0000670	Carious teeth	HP:0040283	ORPHA:763
1513	CTSK	HP:0011304	Broad thumb	2/7	OMIM:615777
1513	CTSK	HP:0000668	Hypodontia	-	OMIM:265800
1513	CTSK	HP:0000668	Hypodontia	-	OMIM:615777
1513	CTSK	HP:0000668	Hypodontia	HP:0040283	ORPHA:763
1513	CTSK	HP:0000664	Synophrys	-	OMIM:615777
1513	CTSK	HP:0004322	Short stature	-	OMIM:265800
1513	CTSK	HP:0004396	Poor appetite	-	OMIM:131300
1513	CTSK	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1513	CTSK	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1513	CTSK	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1513	CTSK	HP:0003026	Short long bone	7/7	OMIM:615777
1513	CTSK	HP:0003027	Mesomelia	HP:0040283	ORPHA:763
1513	CTSK	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1513	CTSK	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1513	CTSK	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1513	CTSK	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1513	CTSK	HP:0000750	Delayed speech and language development	-	OMIM:615777
1513	CTSK	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:763
1513	CTSK	HP:0011461	Fetal onset	7/7	OMIM:615777
1513	CTSK	HP:0000774	Narrow chest	2/7	OMIM:615777
1513	CTSK	HP:0000774	Narrow chest	HP:0040284	ORPHA:763
1513	CTSK	HP:0004440	Coronal craniosynostosis	HP:0040284	ORPHA:763
1513	CTSK	HP:0000926	Platyspondyly	1/7	OMIM:615777
1513	CTSK	HP:0003180	Flat acetabular roof	-	OMIM:615777
1513	CTSK	HP:0004482	Relative macrocephaly	-	OMIM:615777
1513	CTSK	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1513	CTSK	HP:0005789	Generalized osteosclerosis	HP:0040282	ORPHA:763
1513	CTSK	HP:0004474	Persistent open anterior fontanelle	HP:0040281	ORPHA:763
1513	CTSK	HP:0004474	Persistent open anterior fontanelle	-	OMIM:265800
1513	CTSK	HP:0000889	Abnormal clavicle morphology	HP:0040283	ORPHA:763
1513	CTSK	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:763
1513	CTSK	HP:0000823	Delayed puberty	-	OMIM:131300
1513	CTSK	HP:0000894	Short clavicles	-	OMIM:615777
1513	CTSK	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1513	CTSK	HP:0010307	Stridor	HP:0040283	ORPHA:763
1513	CTSK	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1513	CTSK	HP:0009381	Short finger	HP:0040282	ORPHA:763
1513	CTSK	HP:0000286	Epicanthus	1/7	OMIM:615777
1513	CTSK	HP:0000280	Coarse facial features	2/7	OMIM:615777
1513	CTSK	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:763
1513	CTSK	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:763
1513	CTSK	HP:0000269	Prominent occiput	-	OMIM:265800
1513	CTSK	HP:0002827	Hip dislocation	3/7	OMIM:615777
1513	CTSK	HP:0002808	Kyphosis	HP:0040284	ORPHA:763
1513	CTSK	HP:0000252	Microcephaly	-	OMIM:615777
1513	CTSK	HP:0000218	High palate	HP:0040283	ORPHA:763
1513	CTSK	HP:0025502	Overweight	HP:0040283	ORPHA:763
1513	CTSK	HP:0002857	Genu valgum	-	OMIM:131300
1513	CTSK	HP:0002870	Obstructive sleep apnea	HP:0040282	ORPHA:763
1513	CTSK	HP:0002868	Narrow iliac wing	-	OMIM:265800
1513	CTSK	HP:0001533	Slender build	-	OMIM:131300
1513	CTSK	HP:0002866	Hypoplastic iliac wing	HP:0040283	ORPHA:763
1513	CTSK	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:763
1513	CTSK	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1513	CTSK	HP:0007807	Optic nerve compression	-	OMIM:131300
1513	CTSK	HP:0012368	Flat face	7/7	OMIM:615777
1513	CTSK	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1513	CTSK	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:763
1513	CTSK	HP:0000365	Hearing impairment	10/67	OMIM:131300
1513	CTSK	HP:0000343	Long philtrum	1/7	OMIM:615777
1513	CTSK	HP:0011001	Increased bone mineral density	-	OMIM:265800
1513	CTSK	HP:0011001	Increased bone mineral density	-	OMIM:131300
1513	CTSK	HP:0011001	Increased bone mineral density	HP:0040281	ORPHA:763
1513	CTSK	HP:0000347	Micrognathia	-	OMIM:265800
1513	CTSK	HP:0000347	Micrognathia	HP:0040282	ORPHA:763
1513	CTSK	HP:0000311	Round face	2/7	OMIM:615777
1513	CTSK	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:763
1513	CTSK	HP:0002970	Genu varum	-	OMIM:615777
1513	CTSK	HP:0000303	Mandibular prognathia	-	OMIM:131300
1513	CTSK	HP:0006660	Aplastic clavicle	-	OMIM:265800
1513	CTSK	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1513	CTSK	HP:0000486	Strabismus	HP:0040284	ORPHA:763
1513	CTSK	HP:0000470	Short neck	1/7	OMIM:615777
1513	CTSK	HP:0001773	Short foot	HP:0040282	ORPHA:763
1513	CTSK	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1513	CTSK	HP:0001763	Pes planus	1/7	OMIM:615777
1513	CTSK	HP:0000448	Prominent nose	-	OMIM:265800
1513	CTSK	HP:0000448	Prominent nose	HP:0040282	ORPHA:763
1513	CTSK	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:763
1513	CTSK	HP:0005446	Obtuse angle of mandible	HP:0040281	ORPHA:763
1513	CTSK	HP:0001840	Metatarsus adductus	-	OMIM:615777
1513	CTSK	HP:0000520	Proptosis	2/4	OMIM:131300
1513	CTSK	HP:0000520	Proptosis	7/7	OMIM:615777
1513	CTSK	HP:0000520	Proptosis	HP:0040282	ORPHA:763
1513	CTSK	HP:0001807	Ridged nail	-	OMIM:265800
1513	CTSK	HP:0001807	Ridged nail	HP:0040283	ORPHA:763
1513	CTSK	HP:0030353	Decreased serum insulin-like growth factor 1	HP:0040281	ORPHA:763
1513	CTSK	HP:0000592	Blue sclerae	2/7	OMIM:615777
1513	CTSK	HP:0000592	Blue sclerae	HP:0040282	ORPHA:763
1513	CTSK	HP:0012532	Chronic pain	HP:0040282	ORPHA:763
1513	CTSK	HP:0000539	Abnormality of refraction	HP:0040284	ORPHA:763
1513	CTSK	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1513	CTSK	HP:0012514	Lower limb pain	4/4	OMIM:131300
1523	CUX1	HP:0001270	Motor delay	7/9	OMIM:618330
1523	CUX1	HP:0001252	Hypotonia	3/9	OMIM:618330
1523	CUX1	HP:0001249	Intellectual disability	6/9	OMIM:618330
1523	CUX1	HP:0001263	Global developmental delay	9/9	OMIM:618330
1523	CUX1	HP:0000047	Hypospadias	2/9	OMIM:618330
1523	CUX1	HP:0001357	Plagiocephaly	1/9	OMIM:618330
1523	CUX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618330
1523	CUX1	HP:0002007	Frontal bossing	2/9	OMIM:618330
1523	CUX1	HP:0003593	Infantile onset	9/9	OMIM:618330
1523	CUX1	HP:0007010	Poor fine motor coordination	2/9	OMIM:618330
1523	CUX1	HP:0100632	Pulmonary sequestration	1/9	OMIM:618330
1523	CUX1	HP:0000637	Long palpebral fissure	1/9	OMIM:618330
1523	CUX1	HP:0000601	Hypotelorism	1/9	OMIM:618330
1523	CUX1	HP:0000677	Oligodontia	1/9	OMIM:618330
1523	CUX1	HP:0004322	Short stature	2/9	OMIM:618330
1523	CUX1	HP:0006956	Lateral ventricle dilatation	1/9	OMIM:618330
1523	CUX1	HP:0000767	Pectus excavatum	1/9	OMIM:618330
1523	CUX1	HP:0000750	Delayed speech and language development	9/9	OMIM:618330
1523	CUX1	HP:0012704	Widened subarachnoid space	1/9	OMIM:618330
1523	CUX1	HP:0000276	Long face	1/9	OMIM:618330
1523	CUX1	HP:0000219	Thin upper lip vermilion	1/9	OMIM:618330
1523	CUX1	HP:0000369	Low-set ears	1/9	OMIM:618330
1523	CUX1	HP:0000337	Broad forehead	1/9	OMIM:618330
1523	CUX1	HP:0001643	Patent ductus arteriosus	2/9	OMIM:618330
1523	CUX1	HP:0001629	Ventricular septal defect	1/9	OMIM:618330
1523	CUX1	HP:0001631	Atrial septal defect	1/9	OMIM:618330
1523	CUX1	HP:0000414	Bulbous nose	2/9	OMIM:618330
1528	CYB5A	HP:0025118	Lip discoloration	HP:0040282	ORPHA:621
1528	CYB5A	HP:0002451	Limb dystonia	HP:0040283	ORPHA:621
1528	CYB5A	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:621
1528	CYB5A	HP:0001276	Hypertonia	HP:0040284	ORPHA:621
1528	CYB5A	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:621
1528	CYB5A	HP:0001250	Seizure	HP:0040284	ORPHA:621
1528	CYB5A	HP:0001263	Global developmental delay	HP:0040283	ORPHA:621
1528	CYB5A	HP:0001257	Spasticity	HP:0040283	ORPHA:621
1528	CYB5A	HP:0008726	Hypoplasia of the vagina	HP:0040282	ORPHA:90796
1528	CYB5A	HP:0008730	Female external genitalia in individual with 46,XY karyotype	HP:0040283	ORPHA:90796
1528	CYB5A	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:90796
1528	CYB5A	HP:0008675	Enlarged polycystic ovaries	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:621
1528	CYB5A	HP:0000062	Ambiguous genitalia	1/1	OMIM:250790
1528	CYB5A	HP:0012041	Decreased fertility in males	HP:0040282	ORPHA:90796
1528	CYB5A	HP:0000037	Male pseudohermaphroditism	-	OMIM:250790
1528	CYB5A	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:90796
1528	CYB5A	HP:0000054	Micropenis	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0000054	Micropenis	-	OMIM:250790
1528	CYB5A	HP:0000048	Bifid scrotum	1/1	OMIM:250790
1528	CYB5A	HP:0000047	Hypospadias	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0000047	Hypospadias	-	OMIM:250790
1528	CYB5A	HP:0000033	Ambiguous genitalia, male	HP:0040283	ORPHA:90796
1528	CYB5A	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:90796
1528	CYB5A	HP:0000013	Hypoplasia of the uterus	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0000007	Autosomal recessive inheritance	-	OMIM:250790
1528	CYB5A	HP:0000144	Decreased fertility	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0012119	Methemoglobinemia	HP:0040281	ORPHA:621
1528	CYB5A	HP:0012119	Methemoglobinemia	1/1	OMIM:250790
1528	CYB5A	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0012112	Abnormal circulating corticosterone level	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0031215	Decreased circulating dehydroepiandrosterone-sulfate concentration	1/1	OMIM:250790
1528	CYB5A	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0008193	Primary gonadal insufficiency	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0008232	Elevated circulating follicle stimulating hormone level	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0003577	Congenital onset	1/1	OMIM:250790
1528	CYB5A	HP:0002215	Sparse axillary hair	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0002231	Sparse body hair	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0002225	Sparse pubic hair	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:621
1528	CYB5A	HP:0011969	Elevated circulating luteinizing hormone level	1/1	OMIM:250790
1528	CYB5A	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0100607	Dysmenorrhea	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0007112	Temporal cortical atrophy	HP:0040283	ORPHA:621
1528	CYB5A	HP:0002305	Athetosis	HP:0040283	ORPHA:621
1528	CYB5A	HP:0006808	Cerebral hypomyelination	HP:0040283	ORPHA:621
1528	CYB5A	HP:0012697	Small basal ganglia	HP:0040284	ORPHA:621
1528	CYB5A	HP:0011344	Severe global developmental delay	HP:0040283	ORPHA:621
1528	CYB5A	HP:0004322	Short stature	HP:0040282	ORPHA:90796
1528	CYB5A	HP:0006913	Frontal cortical atrophy	HP:0040283	ORPHA:621
1528	CYB5A	HP:0004349	Reduced bone mineral density	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0000771	Gynecomastia	HP:0040283	ORPHA:90796
1528	CYB5A	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:621
1528	CYB5A	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0012853	Scrotal hypospadias	1/1	OMIM:250790
1528	CYB5A	HP:0000868	Decreased fertility in females	HP:0040282	ORPHA:90796
1528	CYB5A	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0000823	Delayed puberty	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0000961	Cyanosis	-	OMIM:250790
1528	CYB5A	HP:0000961	Cyanosis	HP:0040281	ORPHA:621
1528	CYB5A	HP:0000939	Osteoporosis	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:621
1528	CYB5A	HP:0012244	Abnormal sex determination	HP:0040283	ORPHA:90796
1528	CYB5A	HP:0000252	Microcephaly	HP:0040283	ORPHA:621
1528	CYB5A	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:621
1528	CYB5A	HP:0001508	Failure to thrive	HP:0040283	ORPHA:90796
1528	CYB5A	HP:0001518	Small for gestational age	HP:0040284	ORPHA:621
1528	CYB5A	HP:0012448	Delayed myelination	HP:0040284	ORPHA:621
1528	CYB5A	HP:0030349	Decreased circulating androgen concentration	HP:0040281	ORPHA:90796
1528	CYB5A	HP:0000592	Blue sclerae	HP:0040283	ORPHA:621
1528	CYB5A	HP:0000565	Esotropia	HP:0040283	ORPHA:621
1534	CYB561	HP:0001278	Orthostatic hypotension	4/4	OMIM:618182
1534	CYB561	HP:0000007	Autosomal recessive inheritance	-	OMIM:618182
1534	CYB561	HP:0003593	Infantile onset	2/4	OMIM:618182
1534	CYB561	HP:0001943	Hypoglycemia	2/2	OMIM:618182
1534	CYB561	HP:0001903	Anemia	2/2	OMIM:618182
1534	CYB561	HP:0011463	Childhood onset	2/4	OMIM:618182
1534	CYB561	HP:0012213	Decreased glomerular filtration rate	2/2	OMIM:618182
1535	CYBA	HP:0100806	Sepsis	HP:0040283	ORPHA:379
1535	CYBA	HP:0001287	Meningitis	HP:0040283	ORPHA:379
1535	CYBA	HP:0002575	Tracheoesophageal fistula	HP:0040281	ORPHA:379
1535	CYBA	HP:0007417	Discoid lupus rash	-	OMIM:233690
1535	CYBA	HP:0000007	Autosomal recessive inheritance	-	OMIM:233690
1535	CYBA	HP:0002754	Osteomyelitis	-	OMIM:233690
1535	CYBA	HP:0002740	Recurrent E. coli infections	-	OMIM:233690
1535	CYBA	HP:0002741	Recurrent Serratia marcescens infections	-	OMIM:233690
1535	CYBA	HP:0002742	Recurrent Klebsiella infections	-	OMIM:233690
1535	CYBA	HP:0002716	Lymphadenopathy	-	OMIM:233690
1535	CYBA	HP:0002726	Recurrent Staphylococcus aureus infections	-	OMIM:233690
1535	CYBA	HP:0002724	Recurrent Aspergillus infections	-	OMIM:233690
1535	CYBA	HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes	-	OMIM:233690
1535	CYBA	HP:0002721	Immunodeficiency	-	OMIM:233690
1535	CYBA	HP:0002024	Malabsorption	HP:0040281	ORPHA:379
1535	CYBA	HP:0002021	Pyloric stenosis	HP:0040281	ORPHA:379
1535	CYBA	HP:0100523	Liver abscess	-	OMIM:233690
1535	CYBA	HP:0100523	Liver abscess	HP:0040283	ORPHA:379
1535	CYBA	HP:0100533	Inflammatory abnormality of the eye	HP:0040283	ORPHA:379
1535	CYBA	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:379
1535	CYBA	HP:0002240	Hepatomegaly	-	OMIM:233690
1535	CYBA	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:379
1535	CYBA	HP:0100721	Mediastinal lymphadenopathy	HP:0040281	ORPHA:379
1535	CYBA	HP:0003514	Deficiency or absence of cytochrome b(-245)	-	OMIM:233690
1535	CYBA	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:379
1535	CYBA	HP:0100658	Cellulitis	-	OMIM:233690
1535	CYBA	HP:0200042	Skin ulcer	HP:0040283	ORPHA:379
1535	CYBA	HP:0003621	Juvenile onset	-	OMIM:233690
1535	CYBA	HP:0001945	Fever	HP:0040281	ORPHA:379
1535	CYBA	HP:0012733	Macule	HP:0040281	ORPHA:379
1535	CYBA	HP:0003206	Decreased activity of NADPH oxidase	-	OMIM:233690
1535	CYBA	HP:0003203	Decreased neutrophil oxidative burst	-	OMIM:233690
1535	CYBA	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:379
1535	CYBA	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:379
1535	CYBA	HP:0000964	Eczematoid dermatitis	-	OMIM:233690
1535	CYBA	HP:0000246	Sinusitis	HP:0040281	ORPHA:379
1535	CYBA	HP:0000230	Gingivitis	HP:0040283	ORPHA:379
1535	CYBA	HP:0002840	Lymphadenitis	-	OMIM:233690
1535	CYBA	HP:0002842	Recurrent Burkholderia cepacia infections	-	OMIM:233690
1535	CYBA	HP:0006510	Chronic pulmonary obstruction	HP:0040281	ORPHA:379
1535	CYBA	HP:0000388	Otitis media	HP:0040281	ORPHA:379
1535	CYBA	HP:0005224	Rectal abscess	-	OMIM:233690
1535	CYBA	HP:0006532	Recurrent pneumonia	-	OMIM:233690
1535	CYBA	HP:0002955	Granulomatosis	-	OMIM:233690
1535	CYBA	HP:0001744	Splenomegaly	HP:0040283	ORPHA:379
1535	CYBA	HP:0001744	Splenomegaly	-	OMIM:233690
1535	CYBA	HP:0005406	Recurrent bacterial skin infections	-	OMIM:233690
1535	CYBA	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:379
1536	CYBB	HP:0032252	Granuloma	1/1	OMIM:306400
1536	CYBB	HP:0032262	Pulmonary tuberculosis	1/7	OMIM:300645
1536	CYBB	HP:0100806	Sepsis	HP:0040283	ORPHA:379
1536	CYBB	HP:0001287	Meningitis	HP:0040283	ORPHA:379
1536	CYBB	HP:0002575	Tracheoesophageal fistula	HP:0040281	ORPHA:379
1536	CYBB	HP:0007417	Discoid lupus rash	-	OMIM:306400
1536	CYBB	HP:0033662	Air bronchogram	1/1	OMIM:306400
1536	CYBB	HP:0002754	Osteomyelitis	1/1	OMIM:306400
1536	CYBB	HP:0002740	Recurrent E. coli infections	-	OMIM:306400
1536	CYBB	HP:0002741	Recurrent Serratia marcescens infections	-	OMIM:306400
1536	CYBB	HP:0001419	X-linked recessive inheritance	-	OMIM:306400
1536	CYBB	HP:0001419	X-linked recessive inheritance	-	OMIM:300645
1536	CYBB	HP:0002742	Recurrent Klebsiella infections	-	OMIM:306400
1536	CYBB	HP:0002716	Lymphadenopathy	-	OMIM:306400
1536	CYBB	HP:0002726	Recurrent Staphylococcus aureus infections	-	OMIM:306400
1536	CYBB	HP:0002724	Recurrent Aspergillus infections	-	OMIM:306400
1536	CYBB	HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes	-	OMIM:306400
1536	CYBB	HP:0002721	Immunodeficiency	-	OMIM:306400
1536	CYBB	HP:0002024	Malabsorption	HP:0040281	ORPHA:379
1536	CYBB	HP:0002021	Pyloric stenosis	HP:0040281	ORPHA:379
1536	CYBB	HP:0100523	Liver abscess	-	OMIM:306400
1536	CYBB	HP:0100523	Liver abscess	HP:0040283	ORPHA:379
1536	CYBB	HP:0100533	Inflammatory abnormality of the eye	HP:0040283	ORPHA:379
1536	CYBB	HP:0003593	Infantile onset	7/7	OMIM:300645
1536	CYBB	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:379
1536	CYBB	HP:0002240	Hepatomegaly	1/1	OMIM:306400
1536	CYBB	HP:0002202	Pleural effusion	1/1	OMIM:306400
1536	CYBB	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:379
1536	CYBB	HP:0100721	Mediastinal lymphadenopathy	HP:0040281	ORPHA:379
1536	CYBB	HP:0100750	Atelectasis	1/1	OMIM:306400
1536	CYBB	HP:0020087	BCGosis	6/7	OMIM:300645
1536	CYBB	HP:0003514	Deficiency or absence of cytochrome b(-245)	-	OMIM:306400
1536	CYBB	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:379
1536	CYBB	HP:0100658	Cellulitis	-	OMIM:306400
1536	CYBB	HP:0200042	Skin ulcer	HP:0040283	ORPHA:379
1536	CYBB	HP:0003621	Juvenile onset	-	OMIM:306400
1536	CYBB	HP:0001945	Fever	HP:0040281	ORPHA:379
1536	CYBB	HP:0001945	Fever	1/1	OMIM:306400
1536	CYBB	HP:0012735	Cough	1/1	OMIM:306400
1536	CYBB	HP:0012733	Macule	HP:0040281	ORPHA:379
1536	CYBB	HP:0011463	Childhood onset	1/1	OMIM:306400
1536	CYBB	HP:0003206	Decreased activity of NADPH oxidase	-	OMIM:306400
1536	CYBB	HP:0003203	Decreased neutrophil oxidative burst	-	OMIM:306400
1536	CYBB	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:379
1536	CYBB	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:379
1536	CYBB	HP:0000964	Eczematoid dermatitis	-	OMIM:306400
1536	CYBB	HP:0000246	Sinusitis	HP:0040281	ORPHA:379
1536	CYBB	HP:0000230	Gingivitis	HP:0040283	ORPHA:379
1536	CYBB	HP:0001541	Ascites	1/1	OMIM:306400
1536	CYBB	HP:0002840	Lymphadenitis	-	OMIM:306400
1536	CYBB	HP:0002842	Recurrent Burkholderia cepacia infections	-	OMIM:306400
1536	CYBB	HP:0006510	Chronic pulmonary obstruction	HP:0040281	ORPHA:379
1536	CYBB	HP:0000388	Otitis media	HP:0040281	ORPHA:379
1536	CYBB	HP:0005224	Rectal abscess	-	OMIM:306400
1536	CYBB	HP:0006532	Recurrent pneumonia	1/1	OMIM:306400
1536	CYBB	HP:0002955	Granulomatosis	-	OMIM:306400
1536	CYBB	HP:0001744	Splenomegaly	HP:0040283	ORPHA:379
1536	CYBB	HP:0001744	Splenomegaly	-	OMIM:306400
1536	CYBB	HP:0005406	Recurrent bacterial skin infections	-	OMIM:306400
1536	CYBB	HP:0011274	Recurrent mycobacterial infections	-	OMIM:300645
1536	CYBB	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:379
1537	CYC1	HP:0001298	Encephalopathy	1/2	OMIM:615453
1537	CYC1	HP:0001259	Coma	1/2	OMIM:615453
1537	CYC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615453
1537	CYC1	HP:0002013	Vomiting	2/2	OMIM:615453
1537	CYC1	HP:0005974	Episodic ketoacidosis	2/2	OMIM:615453
1537	CYC1	HP:0005979	Metabolic ketoacidosis	1/2	OMIM:615453
1537	CYC1	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:615453
1537	CYC1	HP:0011924	Decreased activity of mitochondrial complex III	2/2	OMIM:615453
1537	CYC1	HP:0003593	Infantile onset	2/2	OMIM:615453
1537	CYC1	HP:0002344	Progressive neurologic deterioration	1/2	OMIM:615453
1537	CYC1	HP:0001944	Dehydration	2/2	OMIM:615453
1537	CYC1	HP:0001943	Hypoglycemia	1/2	OMIM:615453
1537	CYC1	HP:0001993	Ketoacidosis	2/2	OMIM:615453
1537	CYC1	HP:0001987	Hyperammonemia	2/2	OMIM:615453
1537	CYC1	HP:0003074	Hyperglycemia	2/2	OMIM:615453
1537	CYC1	HP:0003128	Lactic acidosis	2/2	OMIM:615453
1537	CYC1	HP:0032653	Elevated lactate:pyruvate ratio	2/2	OMIM:615453
1537	CYC1	HP:0001508	Failure to thrive	1/2	OMIM:615453
1537	CYC1	HP:0001510	Growth delay	1/2	OMIM:615453
1537	CYC1	HP:0006554	Acute hepatic failure	1/2	OMIM:615453
1537	CYC1	HP:0002919	Ketonuria	2/2	OMIM:615453
1537	CYC1	HP:0002910	Elevated circulating hepatic transaminase concentration	2/2	OMIM:615453
1537	CYC1	HP:0000508	Ptosis	1/2	OMIM:615453
1538	CYLC1	HP:0032560	Coiled sperm flagella	1/1	OMIM:301119
1538	CYLC1	HP:0001417	X-linked inheritance	-	OMIM:301119
1538	CYLC1	HP:0034011	Reduced progressive sperm motility	2/2	OMIM:301119
1538	CYLC1	HP:0011462	Young adult onset	2/2	OMIM:301119
1538	CYLC1	HP:0000798	Oligozoospermia	2/2	OMIM:301119
1538	CYLC1	HP:0012865	Abnormal sperm head morphology	2/2	OMIM:301119
1538	CYLC1	HP:0003251	Male infertility	2/2	OMIM:301119
1540	CYLD	HP:0002442	Dyscalculia	2/2	OMIM:619132
1540	CYLD	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:619132
1540	CYLD	HP:0002664	Neoplasm	-	OMIM:605041
1540	CYLD	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:867
1540	CYLD	HP:0002671	Basal cell carcinoma	HP:0040283	OMIM:601606
1540	CYLD	HP:0000006	Autosomal dominant inheritance	-	OMIM:605041
1540	CYLD	HP:0000006	Autosomal dominant inheritance	-	OMIM:132700
1540	CYLD	HP:0000006	Autosomal dominant inheritance	-	OMIM:619132
1540	CYLD	HP:0000006	Autosomal dominant inheritance	-	OMIM:601606
1540	CYLD	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:867
1540	CYLD	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:211
1540	CYLD	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:867
1540	CYLD	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:211
1540	CYLD	HP:0002145	Frontotemporal dementia	-	OMIM:619132
1540	CYLD	HP:0002185	Neurofibrillary tangles	-	OMIM:619132
1540	CYLD	HP:0010529	Echolalia	1/2	OMIM:619132
1540	CYLD	HP:0003596	Middle age onset	9/12	OMIM:619132
1540	CYLD	HP:0003584	Late onset	2/12	OMIM:619132
1540	CYLD	HP:0003581	Adult onset	-	OMIM:601606
1540	CYLD	HP:0003581	Adult onset	-	OMIM:132700
1540	CYLD	HP:0003581	Adult onset	-	OMIM:605041
1540	CYLD	HP:0002283	Global brain atrophy	1/2	OMIM:619132
1540	CYLD	HP:0001056	Milia	-	OMIM:605041
1540	CYLD	HP:0002381	Aphasia	-	OMIM:619132
1540	CYLD	HP:0002354	Memory impairment	12/12	OMIM:619132
1540	CYLD	HP:0200034	Papule	HP:0040281	ORPHA:867
1540	CYLD	HP:0000726	Dementia	12/12	OMIM:619132
1540	CYLD	HP:0000708	Atypical behavior	-	OMIM:619132
1540	CYLD	HP:0011462	Young adult onset	1/10	OMIM:619132
1540	CYLD	HP:0033051	Impaired executive functioning	1/2	OMIM:619132
1540	CYLD	HP:0008069	Neoplasm of the skin	-	OMIM:132700
1545	CYP1B1	HP:0001138	Optic neuropathy	HP:0040282	ORPHA:98977
1545	CYP1B1	HP:0009926	Epiphora	HP:0040282	ORPHA:98976
1545	CYP1B1	HP:0012040	Corneal stromal edema	HP:0040281	ORPHA:98976
1545	CYP1B1	HP:0025326	Retinal arterial occlusion	HP:0040284	ORPHA:98977
1545	CYP1B1	HP:0031159	Thinning of Descemet membrane	HP:0040281	ORPHA:708
1545	CYP1B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:600975
1545	CYP1B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:231300
1545	CYP1B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617315
1545	CYP1B1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:98976
1545	CYP1B1	HP:0012108	Open angle glaucoma	HP:0040282	ORPHA:98977
1545	CYP1B1	HP:0003593	Infantile onset	-	OMIM:231300
1545	CYP1B1	HP:0001089	Iris atrophy	HP:0040282	ORPHA:98976
1545	CYP1B1	HP:0001087	Developmental glaucoma	-	OMIM:617315
1545	CYP1B1	HP:0001087	Developmental glaucoma	HP:0040282	ORPHA:708
1545	CYP1B1	HP:0100693	Iridodonesis	HP:0040283	ORPHA:98976
1545	CYP1B1	HP:0000639	Nystagmus	HP:0040284	ORPHA:708
1545	CYP1B1	HP:0000646	Amblyopia	HP:0040283	ORPHA:98976
1545	CYP1B1	HP:0000643	Blepharospasm	HP:0040282	ORPHA:98976
1545	CYP1B1	HP:0000613	Photophobia	HP:0040282	ORPHA:98976
1545	CYP1B1	HP:0000603	Central scotoma	HP:0040284	ORPHA:98977
1545	CYP1B1	HP:0000659	Peters anomaly	HP:0040280	ORPHA:708
1545	CYP1B1	HP:0012636	Retinal vein occlusion	HP:0040284	ORPHA:98977
1545	CYP1B1	HP:0011493	Central opacification of the cornea	HP:0040281	ORPHA:708
1545	CYP1B1	HP:0011490	Abnormal Descemet membrane morphology	-	OMIM:617315
1545	CYP1B1	HP:0011490	Abnormal Descemet membrane morphology	HP:0040282	ORPHA:98976
1545	CYP1B1	HP:0011496	Corneal neovascularization	-	OMIM:617315
1545	CYP1B1	HP:0011484	Posterior synechiae of the anterior chamber	-	OMIM:617315
1545	CYP1B1	HP:0011483	Anterior synechiae of the anterior chamber	HP:0040281	ORPHA:708
1545	CYP1B1	HP:0012796	Increased cup-to-disc ratio	HP:0040283	ORPHA:98977
1545	CYP1B1	HP:0012803	Anisometropia	HP:0040283	ORPHA:98976
1545	CYP1B1	HP:0008007	Primary congenital glaucoma	-	OMIM:600975
1545	CYP1B1	HP:0008041	Late onset congenital glaucoma	-	OMIM:231300
1545	CYP1B1	HP:0007759	Opacification of the corneal stroma	HP:0040281	ORPHA:708
1545	CYP1B1	HP:0007765	Deep anterior chamber	HP:0040282	ORPHA:98976
1545	CYP1B1	HP:0007854	Glaucomatous visual field defect	HP:0040282	ORPHA:98977
1545	CYP1B1	HP:0011003	High myopia	HP:0040283	ORPHA:98977
1545	CYP1B1	HP:0007957	Corneal opacity	-	OMIM:617315
1545	CYP1B1	HP:0007957	Corneal opacity	HP:0040282	ORPHA:98976
1545	CYP1B1	HP:0007906	Ocular hypertension	-	OMIM:231300
1545	CYP1B1	HP:0007906	Ocular hypertension	HP:0040282	ORPHA:98976
1545	CYP1B1	HP:0007906	Ocular hypertension	HP:0040282	ORPHA:98977
1545	CYP1B1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:98977
1545	CYP1B1	HP:0000486	Strabismus	HP:0040284	ORPHA:708
1545	CYP1B1	HP:0000485	Megalocornea	HP:0040282	ORPHA:98976
1545	CYP1B1	HP:0025751	Reduced anterior scleral thickness	HP:0040282	ORPHA:98976
1545	CYP1B1	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:98977
1545	CYP1B1	HP:0000523	Subcapsular cataract	HP:0040281	ORPHA:708
1545	CYP1B1	HP:0000505	Visual impairment	HP:0040282	ORPHA:98977
1545	CYP1B1	HP:0000501	Glaucoma	HP:0040281	ORPHA:98976
1545	CYP1B1	HP:0000593	Abnormal anterior chamber morphology	HP:0040282	ORPHA:98977
1545	CYP1B1	HP:0000587	Abnormal optic nerve morphology	HP:0040282	ORPHA:98977
1545	CYP1B1	HP:0000557	Buphthalmos	-	OMIM:231300
1545	CYP1B1	HP:0000557	Buphthalmos	HP:0040282	ORPHA:98976
1545	CYP1B1	HP:0000572	Visual loss	HP:0040283	ORPHA:98976
1545	CYP1B1	HP:0012511	Temporal optic disc pallor	HP:0040283	ORPHA:98977
1545	CYP1B1	HP:0000545	Myopia	HP:0040283	ORPHA:98976
1548	CYP2A6	HP:0000006	Autosomal dominant inheritance	-	OMIM:211980
1548	CYP2A6	HP:0000006	Autosomal dominant inheritance	-	OMIM:122700
1548	CYP2A6	HP:0001442	Typified by somatic mosaicism	-	OMIM:211980
1548	CYP2A6	HP:0030078	Lung adenocarcinoma	-	OMIM:211980
1548	CYP2A6	HP:0006519	Alveolar cell carcinoma	-	OMIM:211980
1548	CYP2A6	HP:0030358	Non-small cell lung carcinoma	-	OMIM:211980
1548	CYP2A6	HP:0001871	Abnormality of blood and blood-forming tissues	-	OMIM:122700
1559	CYP2C9	HP:0000006	Autosomal dominant inheritance	-	OMIM:122700
1559	CYP2C9	HP:0001871	Abnormality of blood and blood-forming tissues	-	OMIM:122700
1565	CYP2D6	HP:0002664	Neoplasm	-	OMIM:608902
1565	CYP2D6	HP:0000007	Autosomal recessive inheritance	-	OMIM:608902
1565	CYP2D6	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:608902
1576	CYP3A4	HP:0012052	Low serum calcitriol	2/2	OMIM:619073
1576	CYP3A4	HP:0012053	Decreased circulating calcifediol concentration	2/2	OMIM:619073
1576	CYP3A4	HP:0000006	Autosomal dominant inheritance	-	OMIM:619073
1576	CYP3A4	HP:0002148	Hypophosphatemia	-	OMIM:619073
1576	CYP3A4	HP:0003015	Flared metaphysis	2/2	OMIM:619073
1576	CYP3A4	HP:0031936	Delayed ability to walk	1/2	OMIM:619073
1576	CYP3A4	HP:0003021	Metaphyseal cupping	2/2	OMIM:619073
1576	CYP3A4	HP:0011463	Childhood onset	2/2	OMIM:619073
1576	CYP3A4	HP:0003155	Elevated circulating alkaline phosphatase concentration	-	OMIM:619073
1576	CYP3A4	HP:0003165	Elevated circulating parathyroid hormone level	-	OMIM:619073
1576	CYP3A4	HP:0000938	Osteopenia	-	OMIM:619073
1576	CYP3A4	HP:0001510	Growth delay	-	OMIM:619073
1576	CYP3A4	HP:0002901	Hypocalcemia	-	OMIM:619073
1576	CYP3A4	HP:0002979	Bowing of the legs	-	OMIM:619073
1576	CYP3A4	HP:0002970	Genu varum	-	OMIM:619073
1577	CYP3A5	HP:0001426	Non-Mendelian inheritance	-	OMIM:145500
1577	CYP3A5	HP:0004972	Elevated mean arterial pressure	-	OMIM:145500
1577	CYP3A5	HP:0004421	Elevated systolic blood pressure	-	OMIM:145500
1577	CYP3A5	HP:0005117	Elevated diastolic blood pressure	-	OMIM:145500
1581	CYP7A1	HP:0001397	Hepatic steatosis	HP:0040281	ORPHA:209902
1581	CYP7A1	HP:0001396	Cholestasis	HP:0040281	ORPHA:209902
1581	CYP7A1	HP:0012115	Hepatitis	HP:0040281	ORPHA:209902
1581	CYP7A1	HP:0001403	Macrovesicular hepatic steatosis	HP:0040281	ORPHA:209902
1581	CYP7A1	HP:0100514	Abnormal circulating vitamin E concentration	HP:0040282	ORPHA:209902
1581	CYP7A1	HP:0002155	Hypertriglyceridemia	HP:0040281	ORPHA:209902
1581	CYP7A1	HP:0008372	Abnormal circulating vitamin A concentration	HP:0040282	ORPHA:209902
1581	CYP7A1	HP:0011980	Cholesterol gallstones	HP:0040281	ORPHA:209902
1581	CYP7A1	HP:0004943	Accelerated atherosclerosis	HP:0040282	ORPHA:209902
1581	CYP7A1	HP:0003124	Hypercholesterolemia	HP:0040281	ORPHA:209902
1581	CYP7A1	HP:0003141	Increased LDL cholesterol concentration	HP:0040281	ORPHA:209902
1581	CYP7A1	HP:0001513	Obesity	HP:0040282	ORPHA:209902
1581	CYP7A1	HP:0012397	Aortic atherosclerotic lesion	HP:0040282	ORPHA:209902
1581	CYP7A1	HP:0006573	Acute hepatic steatosis	HP:0040281	ORPHA:209902
1581	CYP7A1	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:209902
1583	CYP11A1	HP:0001197	Abnormality of prenatal development or birth	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0001197	Abnormality of prenatal development or birth	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0007440	Generalized hyperpigmentation	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0007440	Generalized hyperpigmentation	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0008730	Female external genitalia in individual with 46,XY karyotype	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0008730	Female external genitalia in individual with 46,XY karyotype	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0008665	Clitoral hypertrophy	HP:0040283	ORPHA:168558
1583	CYP11A1	HP:0008665	Clitoral hypertrophy	HP:0040283	ORPHA:289548
1583	CYP11A1	HP:0000037	Male pseudohermaphroditism	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0000037	Male pseudohermaphroditism	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0000033	Ambiguous genitalia, male	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0000033	Ambiguous genitalia, male	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0002615	Hypotension	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0002615	Hypotension	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0000142	Abnormal vagina morphology	HP:0040283	ORPHA:289548
1583	CYP11A1	HP:0000142	Abnormal vagina morphology	HP:0040283	ORPHA:168558
1583	CYP11A1	HP:0000144	Decreased fertility	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0000144	Decreased fertility	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0000151	Aplasia of the uterus	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0000151	Aplasia of the uterus	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0007574	Generalized bronze hyperpigmentation	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0007574	Generalized bronze hyperpigmentation	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0000127	Renal salt wasting	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0000127	Renal salt wasting	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0000127	Renal salt wasting	-	OMIM:613743
1583	CYP11A1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0002013	Vomiting	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0002013	Vomiting	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0011749	Adrenocorticotropic hormone excess	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0011749	Adrenocorticotropic hormone excess	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0011749	Adrenocorticotropic hormone excess	-	OMIM:613743
1583	CYP11A1	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0008163	Decreased circulating cortisol level	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0008163	Decreased circulating cortisol level	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0002153	Hyperkalemia	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0002153	Hyperkalemia	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0008232	Elevated circulating follicle stimulating hormone level	HP:0040282	ORPHA:168558
1583	CYP11A1	HP:0008232	Elevated circulating follicle stimulating hormone level	HP:0040282	ORPHA:289548
1583	CYP11A1	HP:0010512	Adrenal calcification	HP:0040283	ORPHA:289548
1583	CYP11A1	HP:0008207	Primary adrenal insufficiency	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0008207	Primary adrenal insufficiency	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0100779	Urogenital sinus anomaly	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0100779	Urogenital sinus anomaly	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040282	ORPHA:168558
1583	CYP11A1	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040282	ORPHA:289548
1583	CYP11A1	HP:0010789	Abnormality of the Leydig cells	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0010789	Abnormality of the Leydig cells	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0012605	Hypernatriuria	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0012605	Hypernatriuria	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0001944	Dehydration	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0001944	Dehydration	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0001941	Acidosis	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0001941	Acidosis	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0001998	Neonatal hypoglycemia	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0001998	Neonatal hypoglycemia	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0004319	Decreased circulating aldosterone concentration	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0004319	Decreased circulating aldosterone concentration	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0004349	Reduced bone mineral density	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0004349	Reduced bone mineral density	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0000771	Gynecomastia	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0000771	Gynecomastia	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0003107	Abnormal circulating cholesterol concentration	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0003107	Abnormal circulating cholesterol concentration	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0003154	Increased circulating ACTH level	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0003154	Increased circulating ACTH level	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0012854	Midshaft hypospadias	HP:0040283	ORPHA:289548
1583	CYP11A1	HP:0012854	Midshaft hypospadias	HP:0040283	ORPHA:168558
1583	CYP11A1	HP:0000859	Increased circulating aldosterone concentration	-	OMIM:613743
1583	CYP11A1	HP:0000835	Adrenal hypoplasia	HP:0040282	ORPHA:168558
1583	CYP11A1	HP:0000835	Adrenal hypoplasia	HP:0040282	ORPHA:289548
1583	CYP11A1	HP:0000848	Increased circulating renin concentration	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0000848	Increased circulating renin concentration	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0000846	Adrenal insufficiency	-	OMIM:613743
1583	CYP11A1	HP:0000823	Delayed puberty	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0000823	Delayed puberty	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0000953	Hyperpigmentation of the skin	-	OMIM:613743
1583	CYP11A1	HP:0000939	Osteoporosis	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0000939	Osteoporosis	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0008073	Low maternal circulating estriol concentration	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0008073	Low maternal circulating estriol concentration	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0012244	Abnormal sex determination	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0012244	Abnormal sex determination	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0012245	Sex reversal	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0012245	Sex reversal	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0012245	Sex reversal	-	OMIM:613743
1583	CYP11A1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0002902	Hyponatremia	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0002902	Hyponatremia	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0001622	Premature birth	HP:0040282	ORPHA:289548
1583	CYP11A1	HP:0001622	Premature birth	HP:0040282	ORPHA:168558
1583	CYP11A1	HP:0011106	Hypovolemia	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0011106	Hypovolemia	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0012598	Abnormal urine potassium concentration	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0012598	Abnormal urine potassium concentration	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0030349	Decreased circulating androgen concentration	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0030349	Decreased circulating androgen concentration	HP:0040281	ORPHA:168558
1583	CYP11A1	HP:0030369	Induced vaginal delivery	HP:0040281	ORPHA:289548
1583	CYP11A1	HP:0030369	Induced vaginal delivery	HP:0040281	ORPHA:168558
1584	CYP11B1	HP:0008726	Hypoplasia of the vagina	-	OMIM:202010
1584	CYP11B1	HP:0008734	Decreased testicular size	5/7	OMIM:202010
1584	CYP11B1	HP:0008665	Clitoral hypertrophy	-	OMIM:202010
1584	CYP11B1	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:90795
1584	CYP11B1	HP:0032330	Increased urinary 11-deoxycorticosterone level	HP:0040281	ORPHA:90795
1584	CYP11B1	HP:0025380	Increased circulating androstenedione concentration	7/7	OMIM:202010
1584	CYP11B1	HP:0025380	Increased circulating androstenedione concentration	HP:0040281	ORPHA:90795
1584	CYP11B1	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:90795
1584	CYP11B1	HP:0000061	Ambiguous genitalia, female	4/4	OMIM:202010
1584	CYP11B1	HP:0000061	Ambiguous genitalia, female	HP:0040282	ORPHA:90795
1584	CYP11B1	HP:0000079	Abnormality of the urinary system	-	OMIM:103900
1584	CYP11B1	HP:0000040	Long penis	5/7	OMIM:202010
1584	CYP11B1	HP:0000040	Long penis	HP:0040282	ORPHA:90795
1584	CYP11B1	HP:0001324	Muscle weakness	HP:0040283	ORPHA:403
1584	CYP11B1	HP:0000013	Hypoplasia of the uterus	-	OMIM:202010
1584	CYP11B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:202010
1584	CYP11B1	HP:0000006	Autosomal dominant inheritance	-	OMIM:103900
1584	CYP11B1	HP:0025451	Testicular adrenal rest tumor	HP:0040283	ORPHA:90795
1584	CYP11B1	HP:0025436	Elevated serum 11-deoxycortisol	7/7	OMIM:202010
1584	CYP11B1	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:90795
1584	CYP11B1	HP:0000127	Renal salt wasting	HP:0040283	ORPHA:90795
1584	CYP11B1	HP:0031213	Elevated circulating 17-hydroxyprogesterone concentration	HP:0040281	ORPHA:90795
1584	CYP11B1	HP:0003351	Decreased circulating renin concentration	5/6	OMIM:202010
1584	CYP11B1	HP:0003351	Decreased circulating renin concentration	-	OMIM:103900
1584	CYP11B1	HP:0003351	Decreased circulating renin concentration	HP:0040281	ORPHA:90795
1584	CYP11B1	HP:0002018	Nausea	HP:0040283	ORPHA:403
1584	CYP11B1	HP:0011746	Secretory adrenocortical adenoma	HP:0040283	ORPHA:403
1584	CYP11B1	HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	HP:0040280	ORPHA:403
1584	CYP11B1	HP:0008185	Precocious puberty in males	5/7	OMIM:202010
1584	CYP11B1	HP:0008163	Decreased circulating cortisol level	HP:0040281	ORPHA:90795
1584	CYP11B1	HP:0002170	Intracranial hemorrhage	HP:0040284	ORPHA:90795
1584	CYP11B1	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:403
1584	CYP11B1	HP:0008258	Congenital adrenal hyperplasia	-	OMIM:202010
1584	CYP11B1	HP:0008236	Isosexual precocious puberty	HP:0040282	ORPHA:90795
1584	CYP11B1	HP:0008221	Adrenal hyperplasia	-	OMIM:103900
1584	CYP11B1	HP:0008221	Adrenal hyperplasia	HP:0040281	ORPHA:403
1584	CYP11B1	HP:0003581	Adult onset	-	OMIM:103900
1584	CYP11B1	HP:0001061	Acne	HP:0040282	ORPHA:90795
1584	CYP11B1	HP:0001007	Hirsutism	HP:0040282	ORPHA:90795
1584	CYP11B1	HP:0002315	Headache	HP:0040283	ORPHA:403
1584	CYP11B1	HP:0100602	Preeclampsia	HP:0040283	ORPHA:403
1584	CYP11B1	HP:0003623	Neonatal onset	-	OMIM:202010
1584	CYP11B1	HP:0003621	Juvenile onset	-	OMIM:103900
1584	CYP11B1	HP:0001959	Polydipsia	HP:0040283	ORPHA:403
1584	CYP11B1	HP:0004322	Short stature	HP:0040282	ORPHA:90795
1584	CYP11B1	HP:0004322	Short stature	-	OMIM:202010
1584	CYP11B1	HP:0004319	Decreased circulating aldosterone concentration	8/8	OMIM:202010
1584	CYP11B1	HP:0005616	Accelerated skeletal maturation	-	OMIM:202010
1584	CYP11B1	HP:0005616	Accelerated skeletal maturation	HP:0040281	ORPHA:90795
1584	CYP11B1	HP:0011410	Caesarean section	HP:0040283	ORPHA:403
1584	CYP11B1	HP:0000771	Gynecomastia	HP:0040283	ORPHA:90795
1584	CYP11B1	HP:0011463	Childhood onset	-	OMIM:103900
1584	CYP11B1	HP:0003154	Increased circulating ACTH level	HP:0040282	ORPHA:90795
1584	CYP11B1	HP:0000859	Increased circulating aldosterone concentration	-	OMIM:103900
1584	CYP11B1	HP:0000858	Irregular menstruation	HP:0040282	ORPHA:90795
1584	CYP11B1	HP:0000840	Adrenogenital syndrome	-	OMIM:103900
1584	CYP11B1	HP:0000840	Adrenogenital syndrome	-	OMIM:202010
1584	CYP11B1	HP:0000826	Precocious puberty	HP:0040282	ORPHA:90795
1584	CYP11B1	HP:0000822	Hypertension	8/11	OMIM:202010
1584	CYP11B1	HP:0000822	Hypertension	HP:0040281	ORPHA:90795
1584	CYP11B1	HP:0000822	Hypertension	HP:0040280	ORPHA:403
1584	CYP11B1	HP:0000822	Hypertension	-	OMIM:103900
1584	CYP11B1	HP:0040084	Abnormal circulating renin concentration	HP:0040281	ORPHA:403
1584	CYP11B1	HP:0010314	Premature thelarche	HP:0040284	ORPHA:90795
1584	CYP11B1	HP:0000953	Hyperpigmentation of the skin	-	OMIM:202010
1584	CYP11B1	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:90795
1584	CYP11B1	HP:0001596	Alopecia	HP:0040283	ORPHA:90795
1584	CYP11B1	HP:0030088	Increased serum testosterone level	7/7	OMIM:202010
1584	CYP11B1	HP:0030088	Increased serum testosterone level	HP:0040283	ORPHA:90795
1584	CYP11B1	HP:0001507	Growth abnormality	HP:0040281	ORPHA:90795
1584	CYP11B1	HP:0002900	Hypokalemia	-	OMIM:202010
1584	CYP11B1	HP:0002900	Hypokalemia	HP:0040281	ORPHA:90795
1584	CYP11B1	HP:0002900	Hypokalemia	HP:0040283	ORPHA:403
1584	CYP11B1	HP:0000360	Tinnitus	HP:0040283	ORPHA:403
1584	CYP11B1	HP:0012411	Premature pubarche	HP:0040282	ORPHA:90795
1584	CYP11B1	HP:0012412	Premature adrenarche	HP:0040282	ORPHA:90795
1584	CYP11B1	HP:0000421	Epistaxis	HP:0040283	ORPHA:403
1584	CYP11B1	HP:0030348	Increased circulating androgen concentration	HP:0040281	ORPHA:90795
1585	CYP11B2	HP:0020200	Increased circulating 18-hydroxycortisone level	1/1	OMIM:610600
1585	CYP11B2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:556030
1585	CYP11B2	HP:0001278	Orthostatic hypotension	-	OMIM:610600
1585	CYP11B2	HP:0001278	Orthostatic hypotension	HP:0040282	ORPHA:556030
1585	CYP11B2	HP:0032362	Increased circulating corticosterone level	1/1	OMIM:610600
1585	CYP11B2	HP:0000079	Abnormality of the urinary system	-	OMIM:103900
1585	CYP11B2	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:556030
1585	CYP11B2	HP:0008872	Feeding difficulties in infancy	-	OMIM:203400
1585	CYP11B2	HP:0001324	Muscle weakness	HP:0040283	ORPHA:403
1585	CYP11B2	HP:0000007	Autosomal recessive inheritance	-	OMIM:203400
1585	CYP11B2	HP:0000007	Autosomal recessive inheritance	-	OMIM:610600
1585	CYP11B2	HP:0000006	Autosomal dominant inheritance	-	OMIM:103900
1585	CYP11B2	HP:0002615	Hypotension	-	OMIM:203400
1585	CYP11B2	HP:0002615	Hypotension	HP:0040281	ORPHA:556030
1585	CYP11B2	HP:0025436	Elevated serum 11-deoxycortisol	HP:0040282	ORPHA:556030
1585	CYP11B2	HP:0012112	Abnormal circulating corticosterone level	HP:0040282	ORPHA:556030
1585	CYP11B2	HP:0000127	Renal salt wasting	-	OMIM:203400
1585	CYP11B2	HP:0000127	Renal salt wasting	-	OMIM:610600
1585	CYP11B2	HP:0003351	Decreased circulating renin concentration	-	OMIM:103900
1585	CYP11B2	HP:0002018	Nausea	HP:0040283	ORPHA:403
1585	CYP11B2	HP:0002013	Vomiting	-	OMIM:203400
1585	CYP11B2	HP:0002013	Vomiting	HP:0040282	ORPHA:556030
1585	CYP11B2	HP:0011746	Secretory adrenocortical adenoma	HP:0040283	ORPHA:403
1585	CYP11B2	HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	HP:0040280	ORPHA:403
1585	CYP11B2	HP:0002153	Hyperkalemia	-	OMIM:203400
1585	CYP11B2	HP:0002153	Hyperkalemia	1/1	OMIM:610600
1585	CYP11B2	HP:0002153	Hyperkalemia	HP:0040281	ORPHA:556030
1585	CYP11B2	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:403
1585	CYP11B2	HP:0008221	Adrenal hyperplasia	-	OMIM:103900
1585	CYP11B2	HP:0008221	Adrenal hyperplasia	HP:0040281	ORPHA:403
1585	CYP11B2	HP:0003581	Adult onset	-	OMIM:103900
1585	CYP11B2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:556030
1585	CYP11B2	HP:0002315	Headache	HP:0040283	ORPHA:403
1585	CYP11B2	HP:0100602	Preeclampsia	HP:0040283	ORPHA:403
1585	CYP11B2	HP:0003623	Neonatal onset	-	OMIM:610600
1585	CYP11B2	HP:0003623	Neonatal onset	-	OMIM:203400
1585	CYP11B2	HP:0003621	Juvenile onset	-	OMIM:103900
1585	CYP11B2	HP:0012606	Renal sodium wasting	HP:0040281	ORPHA:556030
1585	CYP11B2	HP:0001944	Dehydration	-	OMIM:203400
1585	CYP11B2	HP:0001944	Dehydration	-	OMIM:610600
1585	CYP11B2	HP:0001944	Dehydration	HP:0040282	ORPHA:556030
1585	CYP11B2	HP:0001959	Polydipsia	HP:0040283	ORPHA:403
1585	CYP11B2	HP:0001954	Recurrent fever	-	OMIM:203400
1585	CYP11B2	HP:0004319	Decreased circulating aldosterone concentration	-	OMIM:203400
1585	CYP11B2	HP:0004319	Decreased circulating aldosterone concentration	1/1	OMIM:610600
1585	CYP11B2	HP:0004319	Decreased circulating aldosterone concentration	HP:0040282	ORPHA:556030
1585	CYP11B2	HP:0011410	Caesarean section	HP:0040283	ORPHA:403
1585	CYP11B2	HP:0011463	Childhood onset	-	OMIM:103900
1585	CYP11B2	HP:0000859	Increased circulating aldosterone concentration	-	OMIM:103900
1585	CYP11B2	HP:0000848	Increased circulating renin concentration	-	OMIM:203400
1585	CYP11B2	HP:0000848	Increased circulating renin concentration	-	OMIM:610600
1585	CYP11B2	HP:0000848	Increased circulating renin concentration	HP:0040282	ORPHA:556030
1585	CYP11B2	HP:0000840	Adrenogenital syndrome	-	OMIM:103900
1585	CYP11B2	HP:0000811	Abnormal external genitalia morphology	-	ORPHA:556030
1585	CYP11B2	HP:0000822	Hypertension	HP:0040280	ORPHA:403
1585	CYP11B2	HP:0000822	Hypertension	-	OMIM:103900
1585	CYP11B2	HP:0040084	Abnormal circulating renin concentration	HP:0040281	ORPHA:403
1585	CYP11B2	HP:0001508	Failure to thrive	-	OMIM:610600
1585	CYP11B2	HP:0001508	Failure to thrive	-	OMIM:203400
1585	CYP11B2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:556030
1585	CYP11B2	HP:0001510	Growth delay	-	OMIM:610600
1585	CYP11B2	HP:0001510	Growth delay	-	OMIM:203400
1585	CYP11B2	HP:0002902	Hyponatremia	-	OMIM:203400
1585	CYP11B2	HP:0002902	Hyponatremia	1/1	OMIM:610600
1585	CYP11B2	HP:0002902	Hyponatremia	HP:0040281	ORPHA:556030
1585	CYP11B2	HP:0002900	Hypokalemia	HP:0040283	ORPHA:403
1585	CYP11B2	HP:0000360	Tinnitus	HP:0040283	ORPHA:403
1585	CYP11B2	HP:0000421	Epistaxis	HP:0040283	ORPHA:403
1586	CYP17A1	HP:0002555	Absent pubic hair	HP:0040283	ORPHA:90793
1586	CYP17A1	HP:0008726	Hypoplasia of the vagina	HP:0040282	ORPHA:90796
1586	CYP17A1	HP:0008730	Female external genitalia in individual with 46,XY karyotype	HP:0040283	ORPHA:90796
1586	CYP17A1	HP:0008730	Female external genitalia in individual with 46,XY karyotype	HP:0040283	ORPHA:90793
1586	CYP17A1	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:90796
1586	CYP17A1	HP:0032362	Increased circulating corticosterone level	HP:0040281	ORPHA:90793
1586	CYP17A1	HP:0031074	Abnormal response to ACTH stimulation test	HP:0040281	ORPHA:90793
1586	CYP17A1	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0008675	Enlarged polycystic ovaries	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0032330	Increased urinary 11-deoxycorticosterone level	HP:0040281	ORPHA:90793
1586	CYP17A1	HP:0000062	Ambiguous genitalia	-	OMIM:202110
1586	CYP17A1	HP:0012041	Decreased fertility in males	HP:0040282	ORPHA:90796
1586	CYP17A1	HP:0000037	Male pseudohermaphroditism	-	OMIM:202110
1586	CYP17A1	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:90796
1586	CYP17A1	HP:0000054	Micropenis	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0000054	Micropenis	HP:0040283	ORPHA:90793
1586	CYP17A1	HP:0000048	Bifid scrotum	HP:0040283	ORPHA:90793
1586	CYP17A1	HP:0000047	Hypospadias	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0000047	Hypospadias	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0000033	Ambiguous genitalia, male	HP:0040283	ORPHA:90796
1586	CYP17A1	HP:0000033	Ambiguous genitalia, male	HP:0040283	ORPHA:90793
1586	CYP17A1	HP:0000026	Male hypogonadism	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:90796
1586	CYP17A1	HP:0000013	Hypoplasia of the uterus	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:202110
1586	CYP17A1	HP:0000144	Decreased fertility	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0000144	Decreased fertility	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0000138	Ovarian cyst	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0000151	Aplasia of the uterus	HP:0040283	ORPHA:90793
1586	CYP17A1	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	HP:0040281	ORPHA:90793
1586	CYP17A1	HP:0012112	Abnormal circulating corticosterone level	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0031216	Increased circulating progesterone	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0003351	Decreased circulating renin concentration	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0040314	Blind vagina	HP:0040283	ORPHA:90793
1586	CYP17A1	HP:0003394	Muscle spasm	HP:0040283	ORPHA:90793
1586	CYP17A1	HP:0011749	Adrenocorticotropic hormone excess	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0008193	Primary gonadal insufficiency	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0008197	Absence of pubertal development	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0008187	Absence of secondary sex characteristics	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0008163	Decreased circulating cortisol level	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0010465	Precocious puberty in females	HP:0040283	ORPHA:90793
1586	CYP17A1	HP:0008258	Congenital adrenal hyperplasia	HP:0040281	ORPHA:90793
1586	CYP17A1	HP:0008232	Elevated circulating follicle stimulating hormone level	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0008232	Elevated circulating follicle stimulating hormone level	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0008221	Adrenal hyperplasia	-	OMIM:202110
1586	CYP17A1	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:90793
1586	CYP17A1	HP:0002221	Absent axillary hair	HP:0040283	ORPHA:90793
1586	CYP17A1	HP:0002215	Sparse axillary hair	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0002231	Sparse body hair	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0002225	Sparse pubic hair	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0100607	Dysmenorrhea	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0001949	Hypokalemic alkalosis	-	OMIM:202110
1586	CYP17A1	HP:0004322	Short stature	HP:0040282	ORPHA:90796
1586	CYP17A1	HP:0004319	Decreased circulating aldosterone concentration	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0004349	Reduced bone mineral density	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0000771	Gynecomastia	HP:0040283	ORPHA:90796
1586	CYP17A1	HP:0000771	Gynecomastia	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0000771	Gynecomastia	-	OMIM:202110
1586	CYP17A1	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0000786	Primary amenorrhea	-	OMIM:202110
1586	CYP17A1	HP:0000858	Irregular menstruation	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0000868	Decreased fertility in females	HP:0040282	ORPHA:90796
1586	CYP17A1	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:90793
1586	CYP17A1	HP:0000840	Adrenogenital syndrome	-	OMIM:202110
1586	CYP17A1	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0000822	Hypertension	HP:0040281	ORPHA:90793
1586	CYP17A1	HP:0000822	Hypertension	-	OMIM:202110
1586	CYP17A1	HP:0000823	Delayed puberty	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0000823	Delayed puberty	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0003251	Male infertility	HP:0040283	ORPHA:90793
1586	CYP17A1	HP:0000939	Osteoporosis	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:90796
1586	CYP17A1	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:90793
1586	CYP17A1	HP:0012244	Abnormal sex determination	HP:0040283	ORPHA:90796
1586	CYP17A1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:90796
1586	CYP17A1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:90793
1586	CYP17A1	HP:0002900	Hypokalemia	HP:0040282	ORPHA:90793
1586	CYP17A1	HP:0030349	Decreased circulating androgen concentration	HP:0040281	ORPHA:90796
1588	CYP19A1	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0008675	Enlarged polycystic ovaries	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0000098	Tall stature	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:91
1588	CYP19A1	HP:0000061	Ambiguous genitalia, female	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0002663	Delayed epiphyseal ossification	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613546
1588	CYP19A1	HP:0002653	Bone pain	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0000138	Ovarian cyst	-	OMIM:613546
1588	CYP19A1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0002750	Delayed skeletal maturation	3/3	OMIM:613546
1588	CYP19A1	HP:0005978	Type II diabetes mellitus	HP:0040282	ORPHA:91
1588	CYP19A1	HP:0002050	Macroorchidism, postpubertal	HP:0040282	ORPHA:91
1588	CYP19A1	HP:0010458	Female pseudohermaphroditism	-	OMIM:613546
1588	CYP19A1	HP:0010458	Female pseudohermaphroditism	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0008222	Female infertility	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0003577	Congenital onset	4/4	OMIM:613546
1588	CYP19A1	HP:0002230	Generalized hirsutism	HP:0040282	ORPHA:91
1588	CYP19A1	HP:0003077	Hyperlipidemia	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0000786	Primary amenorrhea	-	OMIM:613546
1588	CYP19A1	HP:0000855	Insulin resistance	HP:0040282	ORPHA:91
1588	CYP19A1	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:613546
1588	CYP19A1	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0003251	Male infertility	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0000956	Acanthosis nigricans	HP:0040282	ORPHA:91
1588	CYP19A1	HP:0000939	Osteoporosis	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0000938	Osteopenia	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0008072	Maternal virilization in pregnancy	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0002857	Genu valgum	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0001510	Growth delay	HP:0040281	ORPHA:91
1588	CYP19A1	HP:0001513	Obesity	HP:0040281	ORPHA:91
1589	CYP21A2	HP:6000516	Elevated circulating 21-deoxycortisol concentration	-	OMIM:201910
1589	CYP21A2	HP:0000047	Hypospadias	-	OMIM:201910
1589	CYP21A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:201910
1589	CYP21A2	HP:0000127	Renal salt wasting	-	OMIM:201910
1589	CYP21A2	HP:0008221	Adrenal hyperplasia	-	OMIM:201910
1589	CYP21A2	HP:0001943	Hypoglycemia	-	OMIM:201910
1589	CYP21A2	HP:0001945	Fever	-	OMIM:201910
1589	CYP21A2	HP:0001954	Recurrent fever	-	OMIM:201910
1589	CYP21A2	HP:0000771	Gynecomastia	-	OMIM:201910
1589	CYP21A2	HP:0000765	Abnormal thorax morphology	-	OMIM:201910
1589	CYP21A2	HP:0000840	Adrenogenital syndrome	-	OMIM:201910
1589	CYP21A2	HP:0000822	Hypertension	-	OMIM:201910
1589	CYP21A2	HP:0001507	Growth abnormality	-	OMIM:201910
1591	CYP24A1	HP:0001254	Lethargy	-	OMIM:143880
1591	CYP24A1	HP:0001252	Hypotonia	6/10	OMIM:143880
1591	CYP24A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:143880
1591	CYP24A1	HP:0000121	Nephrocalcinosis	-	OMIM:143880
1591	CYP24A1	HP:0000103	Polyuria	7/10	OMIM:143880
1591	CYP24A1	HP:0002013	Vomiting	-	OMIM:143880
1591	CYP24A1	HP:0002150	Hypercalciuria	10/10	OMIM:143880
1591	CYP24A1	HP:0003593	Infantile onset	8/8	OMIM:143880
1591	CYP24A1	HP:0031817	Decreased circulating parathyroid hormone level	5/5	OMIM:143880
1591	CYP24A1	HP:0001944	Dehydration	-	OMIM:143880
1591	CYP24A1	HP:0003072	Hypercalcemia	10/10	OMIM:143880
1591	CYP24A1	HP:0000787	Nephrolithiasis	HP:0040283	OMIM:143880
1591	CYP24A1	HP:0001508	Failure to thrive	5/10	OMIM:143880
1591	CYP24A1	HP:0012408	Medullary nephrocalcinosis	10/10	OMIM:143880
1591	CYP24A1	HP:0001824	Weight loss	-	OMIM:143880
1593	CYP27A1	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0001167	Abnormal finger morphology	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0001138	Optic neuropathy	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0002453	Abnormal globus pallidus morphology	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0001118	Juvenile cataract	HP:0040281	ORPHA:909
1593	CYP27A1	HP:0001114	Xanthelasma	-	OMIM:213700
1593	CYP27A1	HP:0007305	CNS demyelination	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0007272	Progressive psychomotor deterioration	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0007256	Abnormal pyramidal sign	-	OMIM:213700
1593	CYP27A1	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0010874	Tendon xanthomatosis	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0010874	Tendon xanthomatosis	-	OMIM:213700
1593	CYP27A1	HP:0002423	Long-tract sign	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0001272	Cerebellar atrophy	1/1	OMIM:213700
1593	CYP27A1	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0001288	Gait disturbance	1/1	OMIM:213700
1593	CYP27A1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0001250	Seizure	-	OMIM:213700
1593	CYP27A1	HP:0001250	Seizure	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0001251	Ataxia	-	OMIM:213700
1593	CYP27A1	HP:0001251	Ataxia	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0001249	Intellectual disability	-	OMIM:213700
1593	CYP27A1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0001260	Dysarthria	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0001257	Spasticity	-	OMIM:213700
1593	CYP27A1	HP:0001257	Spasticity	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0100872	Abnormality of the plantar skin of foot	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0007377	Abnormality of somatosensory evoked potentials	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0007340	Lower limb muscle weakness	1/1	OMIM:213700
1593	CYP27A1	HP:0002518	Abnormal periventricular white matter morphology	-	OMIM:213700
1593	CYP27A1	HP:0012075	Personality disorder	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0001332	Dystonia	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:213700
1593	CYP27A1	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0001300	Parkinsonism	HP:0040283	ORPHA:909
1593	CYP27A1	HP:6000821	Elevated circulating bile alcohol concentration	-	OMIM:213700
1593	CYP27A1	HP:0031290	Tuberous xanthoma	-	OMIM:213700
1593	CYP27A1	HP:0002028	Chronic diarrhea	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0002014	Diarrhea	-	OMIM:213700
1593	CYP27A1	HP:0002088	Abnormal lung morphology	HP:0040284	ORPHA:909
1593	CYP27A1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0002093	Respiratory insufficiency	-	OMIM:213700
1593	CYP27A1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0002059	Cerebral atrophy	1/1	OMIM:213700
1593	CYP27A1	HP:0003474	Somatic sensory dysfunction	HP:0040284	ORPHA:909
1593	CYP27A1	HP:0003487	Babinski sign	1/1	OMIM:213700
1593	CYP27A1	HP:0003487	Babinski sign	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0003482	EMG: axonal abnormality	-	OMIM:213700
1593	CYP27A1	HP:0002151	Increased circulating lactate concentration	HP:0040283	ORPHA:909
1593	CYP27A1	HP:6000203	Elevated CSF cholestanol concentration	2/2	OMIM:213700
1593	CYP27A1	HP:0011931	Abnormal cerebellar peduncle morphology	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0002196	Myelopathy	HP:0040284	ORPHA:909
1593	CYP27A1	HP:0002171	Gliosis	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0010530	Palatal tremor	HP:0040284	ORPHA:909
1593	CYP27A1	HP:0200125	Mitochondrial respiratory chain defects	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0011994	Abnormal atrial septum morphology	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0007024	Pseudobulbar paralysis	-	OMIM:213700
1593	CYP27A1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0002385	Paraparesis	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0002322	Resting tremor	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0002313	Spastic paraparesis	HP:0040284	ORPHA:909
1593	CYP27A1	HP:0010845	EEG with generalized slow activity	1/1	OMIM:213700
1593	CYP27A1	HP:0008516	Abnormality of the vertebral spinous processes	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0009830	Peripheral neuropathy	-	OMIM:213700
1593	CYP27A1	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0009811	Abnormality of the elbow	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0001081	Cholelithiasis	-	OMIM:213700
1593	CYP27A1	HP:0002310	Orofacial dyskinesia	HP:0040282	ORPHA:909
1593	CYP27A1	HP:6001007	Elevated urinary bile alcohol level	-	OMIM:213700
1593	CYP27A1	HP:0000639	Nystagmus	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0000649	Abnormality of visual evoked potentials	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0006958	Abnormal auditory evoked potentials	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0000738	Hallucinations	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0000738	Hallucinations	-	OMIM:213700
1593	CYP27A1	HP:0000736	Short attention span	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0000746	Delusion	-	OMIM:213700
1593	CYP27A1	HP:0012706	Elevated brain choline level by MRS	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0012707	Elevated brain lactate level by MRS	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0000716	Depression	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0000717	Autism	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0000713	Agitation	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0000726	Dementia	-	OMIM:213700
1593	CYP27A1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0011448	Ankle clonus	1/1	OMIM:213700
1593	CYP27A1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0003107	Abnormal circulating cholesterol concentration	-	OMIM:213700
1593	CYP27A1	HP:0004416	Precocious atherosclerosis	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0100321	Abnormal dentate nucleus morphology	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0100321	Abnormal dentate nucleus morphology	-	OMIM:213700
1593	CYP27A1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0012896	Abnormal motor evoked potentials	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0040078	Axonal degeneration	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0000991	Xanthomatosis	1/1	OMIM:213700
1593	CYP27A1	HP:0000939	Osteoporosis	-	OMIM:213700
1593	CYP27A1	HP:0000939	Osteoporosis	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0000938	Osteopenia	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0100291	Delayed somatosensory central conduction time	-	OMIM:213700
1593	CYP27A1	HP:0008046	Abnormal retinal vascular morphology	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0005109	Abnormality of the Achilles tendon	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:909
1593	CYP27A1	HP:0006579	Prolonged neonatal jaundice	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0002942	Thoracic kyphosis	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0005181	Premature coronary artery atherosclerosis	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0006480	Premature loss of teeth	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0001681	Angina pectoris	-	OMIM:213700
1593	CYP27A1	HP:0002992	Abnormal tibia morphology	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0001658	Myocardial infarction	-	OMIM:213700
1593	CYP27A1	HP:0007922	Hypermyelinated retinal nerve fibers	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0000464	Abnormality of the neck	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0025710	Late young adult onset	1/1	OMIM:213700
1593	CYP27A1	HP:0001761	Pes cavus	HP:0040282	ORPHA:909
1593	CYP27A1	HP:0000518	Cataract	-	OMIM:213700
1593	CYP27A1	HP:0000520	Proptosis	HP:0040283	ORPHA:909
1593	CYP27A1	HP:0000505	Visual impairment	HP:0040281	ORPHA:909
1593	CYP27A1	HP:0000543	Optic disc pallor	-	OMIM:213700
1593	CYP27A1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:909
1594	CYP27B1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1594	CYP27B1	HP:0003758	Reduced subcutaneous adipose tissue	1/1	OMIM:264700
1594	CYP27B1	HP:0001293	Cranial nerve compression	-	OMIM:131300
1594	CYP27B1	HP:0001290	Generalized hypotonia	-	OMIM:264700
1594	CYP27B1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:289157
1594	CYP27B1	HP:0001270	Motor delay	-	OMIM:264700
1594	CYP27B1	HP:0001270	Motor delay	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0001288	Gait disturbance	-	OMIM:264700
1594	CYP27B1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:289157
1594	CYP27B1	HP:0001281	Tetany	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0001252	Hypotonia	-	OMIM:264700
1594	CYP27B1	HP:0001252	Hypotonia	2/7	OMIM:615777
1594	CYP27B1	HP:0001249	Intellectual disability	5/7	OMIM:615777
1594	CYP27B1	HP:0001263	Global developmental delay	-	OMIM:615777
1594	CYP27B1	HP:0002515	Waddling gait	54/102	OMIM:131300
1594	CYP27B1	HP:0012052	Low serum calcitriol	5/5	OMIM:264700
1594	CYP27B1	HP:0012052	Low serum calcitriol	HP:0040280	ORPHA:289157
1594	CYP27B1	HP:0012053	Decreased circulating calcifediol concentration	0/4	OMIM:264700
1594	CYP27B1	HP:0001382	Joint hypermobility	-	OMIM:615777
1594	CYP27B1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1594	CYP27B1	HP:0008897	Postnatal growth retardation	1/1	OMIM:264700
1594	CYP27B1	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1594	CYP27B1	HP:0002663	Delayed epiphyseal ossification	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0002663	Delayed epiphyseal ossification	-	OMIM:264700
1594	CYP27B1	HP:0002659	Increased susceptibility to fractures	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1594	CYP27B1	HP:0001324	Muscle weakness	1/1	OMIM:264700
1594	CYP27B1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0001324	Muscle weakness	40/96	OMIM:131300
1594	CYP27B1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1594	CYP27B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1594	CYP27B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:264700
1594	CYP27B1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1594	CYP27B1	HP:0002653	Bone pain	1/1	OMIM:264700
1594	CYP27B1	HP:0002653	Bone pain	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0002650	Scoliosis	12/14	OMIM:131300
1594	CYP27B1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1594	CYP27B1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1594	CYP27B1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1594	CYP27B1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1594	CYP27B1	HP:0000175	Cleft palate	2/7	OMIM:615777
1594	CYP27B1	HP:0006297	Enamel hypoplasia	-	OMIM:264700
1594	CYP27B1	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:289157
1594	CYP27B1	HP:0000117	Renal phosphate wasting	1/1	OMIM:264700
1594	CYP27B1	HP:0002757	Recurrent fractures	1/1	OMIM:264700
1594	CYP27B1	HP:0002753	Thin bony cortex	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0002753	Thin bony cortex	-	OMIM:264700
1594	CYP27B1	HP:0002752	Sparse bone trabeculae	-	OMIM:264700
1594	CYP27B1	HP:0002752	Sparse bone trabeculae	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0002748	Rickets	HP:0040280	ORPHA:289157
1594	CYP27B1	HP:0002748	Rickets	5/5	OMIM:264700
1594	CYP27B1	HP:0002749	Osteomalacia	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0002007	Frontal bossing	-	OMIM:264700
1594	CYP27B1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:289157
1594	CYP27B1	HP:0003388	Easy fatigability	36/76	OMIM:131300
1594	CYP27B1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1594	CYP27B1	HP:0002148	Hypophosphatemia	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0002148	Hypophosphatemia	11/11	OMIM:264700
1594	CYP27B1	HP:0002199	Hypocalcemic seizures	-	OMIM:264700
1594	CYP27B1	HP:0002199	Hypocalcemic seizures	HP:0040283	ORPHA:289157
1594	CYP27B1	HP:0010537	Wide cranial sutures	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0010502	Fibular bowing	-	OMIM:264700
1594	CYP27B1	HP:0003593	Infantile onset	1/1	OMIM:264700
1594	CYP27B1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:289157
1594	CYP27B1	HP:0010639	Elevated alkaline phosphatase of bone origin	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0003510	Severe short stature	7/7	OMIM:615777
1594	CYP27B1	HP:0003698	Difficulty standing	-	OMIM:264700
1594	CYP27B1	HP:0002315	Headache	-	OMIM:131300
1594	CYP27B1	HP:0004976	Knee dislocation	6/7	OMIM:615777
1594	CYP27B1	HP:0009803	Short phalanx of finger	-	OMIM:615777
1594	CYP27B1	HP:0009763	Limb pain	63/92	OMIM:131300
1594	CYP27B1	HP:0003621	Juvenile onset	-	OMIM:131300
1594	CYP27B1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1594	CYP27B1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1594	CYP27B1	HP:6001056	Out-toeing	-	OMIM:131300
1594	CYP27B1	HP:0000651	Diplopia	-	OMIM:131300
1594	CYP27B1	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:289157
1594	CYP27B1	HP:0001942	Metabolic acidosis	1/1	OMIM:264700
1594	CYP27B1	HP:0001956	Truncal obesity	2/7	OMIM:615777
1594	CYP27B1	HP:0001931	Hypochromic anemia	HP:0040282	ORPHA:289157
1594	CYP27B1	HP:0001903	Anemia	HP:0040283	OMIM:131300
1594	CYP27B1	HP:0010049	Short metacarpal	-	OMIM:615777
1594	CYP27B1	HP:0000684	Delayed eruption of teeth	1/1	OMIM:264700
1594	CYP27B1	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:289157
1594	CYP27B1	HP:0009023	Abdominal wall muscle weakness	-	OMIM:264700
1594	CYP27B1	HP:0000678	Dental crowding	-	OMIM:615777
1594	CYP27B1	HP:0000670	Carious teeth	-	OMIM:131300
1594	CYP27B1	HP:0011304	Broad thumb	2/7	OMIM:615777
1594	CYP27B1	HP:0000668	Hypodontia	-	OMIM:615777
1594	CYP27B1	HP:0000664	Synophrys	-	OMIM:615777
1594	CYP27B1	HP:0004322	Short stature	HP:0040282	ORPHA:289157
1594	CYP27B1	HP:0004396	Poor appetite	-	OMIM:131300
1594	CYP27B1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1594	CYP27B1	HP:0003029	Enlargement of the ankles	-	OMIM:264700
1594	CYP27B1	HP:0003029	Enlargement of the ankles	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1594	CYP27B1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1594	CYP27B1	HP:0003013	Bulging epiphyses	-	OMIM:264700
1594	CYP27B1	HP:0003026	Short long bone	7/7	OMIM:615777
1594	CYP27B1	HP:0003025	Metaphyseal irregularity	-	OMIM:264700
1594	CYP27B1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1594	CYP27B1	HP:0003020	Enlargement of the wrists	-	OMIM:264700
1594	CYP27B1	HP:0003020	Enlargement of the wrists	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0003021	Metaphyseal cupping	1/1	OMIM:264700
1594	CYP27B1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1594	CYP27B1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1594	CYP27B1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1594	CYP27B1	HP:0000737	Irritability	-	OMIM:264700
1594	CYP27B1	HP:0000737	Irritability	HP:0040283	ORPHA:289157
1594	CYP27B1	HP:0000750	Delayed speech and language development	-	OMIM:615777
1594	CYP27B1	HP:0011463	Childhood onset	4/4	OMIM:264700
1594	CYP27B1	HP:0011461	Fetal onset	7/7	OMIM:615777
1594	CYP27B1	HP:0000774	Narrow chest	2/7	OMIM:615777
1594	CYP27B1	HP:0011422	Abnormal blood chloride concentration	0/1	OMIM:264700
1594	CYP27B1	HP:0003106	Subperiosteal bone resorption	-	OMIM:264700
1594	CYP27B1	HP:0003106	Subperiosteal bone resorption	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0000926	Platyspondyly	1/7	OMIM:615777
1594	CYP27B1	HP:0000920	Enlargement of the costochondral junction	-	OMIM:264700
1594	CYP27B1	HP:0000920	Enlargement of the costochondral junction	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0003180	Flat acetabular roof	-	OMIM:615777
1594	CYP27B1	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:264700
1594	CYP27B1	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:289157
1594	CYP27B1	HP:0004482	Relative macrocephaly	-	OMIM:615777
1594	CYP27B1	HP:0003165	Elevated circulating parathyroid hormone level	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0003165	Elevated circulating parathyroid hormone level	1/1	OMIM:264700
1594	CYP27B1	HP:0004492	Widely patent fontanelles and sutures	-	OMIM:264700
1594	CYP27B1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1594	CYP27B1	HP:0003127	Hypocalciuria	1/1	OMIM:264700
1594	CYP27B1	HP:0000893	Bulging of the costochondral junction	-	OMIM:264700
1594	CYP27B1	HP:0000886	Deformed rib cage	-	OMIM:264700
1594	CYP27B1	HP:0000886	Deformed rib cage	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0000867	Secondary hyperparathyroidism	-	OMIM:264700
1594	CYP27B1	HP:0000867	Secondary hyperparathyroidism	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0000823	Delayed puberty	-	OMIM:131300
1594	CYP27B1	HP:0000894	Short clavicles	-	OMIM:615777
1594	CYP27B1	HP:0000897	Rachitic rosary	1/1	OMIM:264700
1594	CYP27B1	HP:0000897	Rachitic rosary	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1594	CYP27B1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1594	CYP27B1	HP:0000286	Epicanthus	1/7	OMIM:615777
1594	CYP27B1	HP:0000280	Coarse facial features	2/7	OMIM:615777
1594	CYP27B1	HP:0002827	Hip dislocation	3/7	OMIM:615777
1594	CYP27B1	HP:0005042	Irregular, rachitic-like metaphyses	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0000252	Microcephaly	-	OMIM:615777
1594	CYP27B1	HP:0002857	Genu valgum	-	OMIM:131300
1594	CYP27B1	HP:0001538	Protuberant abdomen	HP:0040283	ORPHA:289157
1594	CYP27B1	HP:0001538	Protuberant abdomen	-	OMIM:264700
1594	CYP27B1	HP:0001533	Slender build	-	OMIM:131300
1594	CYP27B1	HP:0001508	Failure to thrive	-	OMIM:264700
1594	CYP27B1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1594	CYP27B1	HP:0001510	Growth delay	-	OMIM:264700
1594	CYP27B1	HP:0007807	Optic nerve compression	-	OMIM:131300
1594	CYP27B1	HP:0012368	Flat face	7/7	OMIM:615777
1594	CYP27B1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1594	CYP27B1	HP:0002919	Ketonuria	1/1	OMIM:264700
1594	CYP27B1	HP:0002909	Generalized aminoaciduria	1/1	OMIM:264700
1594	CYP27B1	HP:0002909	Generalized aminoaciduria	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0002901	Hypocalcemia	5/5	OMIM:264700
1594	CYP27B1	HP:0002901	Hypocalcemia	HP:0040280	ORPHA:289157
1594	CYP27B1	HP:0000365	Hearing impairment	10/67	OMIM:131300
1594	CYP27B1	HP:0000343	Long philtrum	1/7	OMIM:615777
1594	CYP27B1	HP:0011001	Increased bone mineral density	-	OMIM:131300
1594	CYP27B1	HP:0002982	Tibial bowing	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0002982	Tibial bowing	-	OMIM:264700
1594	CYP27B1	HP:0002980	Femoral bowing	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0002980	Femoral bowing	-	OMIM:264700
1594	CYP27B1	HP:0002979	Bowing of the legs	-	OMIM:264700
1594	CYP27B1	HP:0000311	Round face	2/7	OMIM:615777
1594	CYP27B1	HP:0002970	Genu varum	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0002970	Genu varum	-	OMIM:615777
1594	CYP27B1	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:289157
1594	CYP27B1	HP:0000303	Mandibular prognathia	-	OMIM:131300
1594	CYP27B1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1594	CYP27B1	HP:0000470	Short neck	1/7	OMIM:615777
1594	CYP27B1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1594	CYP27B1	HP:0001763	Pes planus	1/7	OMIM:615777
1594	CYP27B1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:289157
1594	CYP27B1	HP:0005469	Flat occiput	HP:0040281	ORPHA:289157
1594	CYP27B1	HP:0005469	Flat occiput	-	OMIM:264700
1594	CYP27B1	HP:0001840	Metatarsus adductus	-	OMIM:615777
1594	CYP27B1	HP:0000520	Proptosis	2/4	OMIM:131300
1594	CYP27B1	HP:0000520	Proptosis	7/7	OMIM:615777
1594	CYP27B1	HP:0000592	Blue sclerae	2/7	OMIM:615777
1594	CYP27B1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1594	CYP27B1	HP:0012514	Lower limb pain	4/4	OMIM:131300
1600	DAB1	HP:0002406	Limb dysmetria	HP:0040282	ORPHA:363710
1600	DAB1	HP:0001272	Cerebellar atrophy	-	OMIM:615945
1600	DAB1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:363710
1600	DAB1	HP:0001251	Ataxia	27/27	OMIM:615945
1600	DAB1	HP:0001260	Dysarthria	27/30	OMIM:615945
1600	DAB1	HP:0002527	Falls	HP:0040281	ORPHA:363710
1600	DAB1	HP:0001337	Tremor	HP:0040282	ORPHA:363710
1600	DAB1	HP:0001337	Tremor	HP:0040283	OMIM:615945
1600	DAB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615945
1600	DAB1	HP:0001336	Myoclonus	HP:0040282	ORPHA:363710
1600	DAB1	HP:0002015	Dysphagia	HP:0040283	OMIM:615945
1600	DAB1	HP:0002078	Truncal ataxia	HP:0040282	ORPHA:363710
1600	DAB1	HP:0002075	Dysdiadochokinesis	HP:0040282	ORPHA:363710
1600	DAB1	HP:0003474	Somatic sensory dysfunction	HP:0040282	ORPHA:363710
1600	DAB1	HP:0002168	Scanning speech	HP:0040282	ORPHA:363710
1600	DAB1	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:363710
1600	DAB1	HP:0003596	Middle age onset	4/30	OMIM:615945
1600	DAB1	HP:0002396	Cogwheel rigidity	HP:0040281	ORPHA:363710
1600	DAB1	HP:0002359	Frequent falls	-	OMIM:615945
1600	DAB1	HP:0003677	Slowly progressive	-	OMIM:615945
1600	DAB1	HP:0002317	Unsteady gait	9/30	OMIM:615945
1600	DAB1	HP:0003621	Juvenile onset	14/30	OMIM:615945
1600	DAB1	HP:0006855	Cerebellar vermis atrophy	HP:0040282	ORPHA:363710
1600	DAB1	HP:0000639	Nystagmus	HP:0040283	OMIM:615945
1600	DAB1	HP:0000666	Horizontal nystagmus	HP:0040282	ORPHA:363710
1600	DAB1	HP:0011463	Childhood onset	2/30	OMIM:615945
1600	DAB1	HP:0011462	Young adult onset	10/30	OMIM:615945
1600	DAB1	HP:0100275	Diffuse cerebellar atrophy	HP:0040282	ORPHA:363710
1600	DAB1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:363710
1600	DAB1	HP:0000549	Abnormal conjugate eye movement	HP:0040281	ORPHA:363710
1604	CD55	HP:0002593	Intestinal lymphangiectasia	5/11	OMIM:226300
1604	CD55	HP:0007430	Generalized edema	-	OMIM:226300
1604	CD55	HP:0001217	Clubbing	-	OMIM:226300
1604	CD55	HP:0000007	Autosomal recessive inheritance	-	OMIM:613793
1604	CD55	HP:0000007	Autosomal recessive inheritance	-	OMIM:226300
1604	CD55	HP:0002639	Budd-Chiari syndrome	1/11	OMIM:226300
1604	CD55	HP:0002783	Recurrent lower respiratory tract infections	5/11	OMIM:226300
1604	CD55	HP:0002719	Recurrent infections	-	OMIM:226300
1604	CD55	HP:0002024	Malabsorption	11/11	OMIM:226300
1604	CD55	HP:0002027	Abdominal pain	4/11	OMIM:226300
1604	CD55	HP:0002014	Diarrhea	8/11	OMIM:226300
1604	CD55	HP:0002013	Vomiting	6/11	OMIM:226300
1604	CD55	HP:0003593	Infantile onset	2/9	OMIM:226300
1604	CD55	HP:0002243	Protein-losing enteropathy	HP:0040284	OMIM:613793
1604	CD55	HP:0002242	Abnormal intestine morphology	-	OMIM:226300
1604	CD55	HP:0002240	Hepatomegaly	-	OMIM:226300
1604	CD55	HP:0002204	Pulmonary embolism	-	OMIM:226300
1604	CD55	HP:0100759	Clubbing of fingers	5/11	OMIM:226300
1604	CD55	HP:0003621	Juvenile onset	2/9	OMIM:226300
1604	CD55	HP:0001903	Anemia	9/11	OMIM:226300
1604	CD55	HP:0004313	Decreased circulating immunoglobulin concentration	11/11	OMIM:226300
1604	CD55	HP:0003075	Hypoproteinemia	-	OMIM:226300
1604	CD55	HP:0003073	Hypoalbuminemia	10/11	OMIM:226300
1604	CD55	HP:0011463	Childhood onset	5/9	OMIM:226300
1604	CD55	HP:0000821	Hypothyroidism	3/11	OMIM:226300
1604	CD55	HP:0000969	Edema	9/11	OMIM:226300
1604	CD55	HP:0002829	Arthralgia	2/11	OMIM:226300
1604	CD55	HP:0001541	Ascites	-	OMIM:226300
1604	CD55	HP:0001510	Growth delay	8/11	OMIM:226300
1604	CD55	HP:0005214	Intestinal obstruction	-	OMIM:226300
1604	CD55	HP:0030243	Hepatic vein thrombosis	2/11	OMIM:226300
1604	CD55	HP:0001891	Iron deficiency anemia	-	OMIM:226300
1604	CD55	HP:0001894	Thrombocytosis	2/11	OMIM:226300
1605	DAG1	HP:0002465	Poor speech	HP:0040283	ORPHA:280333
1605	DAG1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:280333
1605	DAG1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:370997
1605	DAG1	HP:0002421	Poor head control	HP:0040282	ORPHA:370997
1605	DAG1	HP:0002421	Poor head control	2/2	OMIM:616538
1605	DAG1	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:370997
1605	DAG1	HP:0002415	Leukodystrophy	-	OMIM:616538
1605	DAG1	HP:0003707	Calf muscle pseudohypertrophy	HP:0040283	ORPHA:280333
1605	DAG1	HP:0001290	Generalized hypotonia	2/2	OMIM:616538
1605	DAG1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:899
1605	DAG1	HP:0001270	Motor delay	HP:0040282	ORPHA:280333
1605	DAG1	HP:0001288	Gait disturbance	1/1	OMIM:613818
1605	DAG1	HP:0001284	Areflexia	HP:0040281	ORPHA:899
1605	DAG1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:280333
1605	DAG1	HP:0001250	Seizure	HP:0040283	ORPHA:899
1605	DAG1	HP:0001252	Hypotonia	-	OMIM:616538
1605	DAG1	HP:0001252	Hypotonia	HP:0040281	ORPHA:899
1605	DAG1	HP:0001249	Intellectual disability	1/1	OMIM:613818
1605	DAG1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:899
1605	DAG1	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:899
1605	DAG1	HP:0001263	Global developmental delay	2/2	OMIM:616538
1605	DAG1	HP:0001263	Global developmental delay	1/1	OMIM:613818
1605	DAG1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:899
1605	DAG1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:899
1605	DAG1	HP:0007361	Abnormal pons morphology	HP:0040282	ORPHA:370997
1605	DAG1	HP:0002536	Abnormal cortical gyration	HP:0040281	ORPHA:899
1605	DAG1	HP:0002515	Waddling gait	HP:0040282	ORPHA:280333
1605	DAG1	HP:0002514	Cerebral calcification	-	OMIM:616538
1605	DAG1	HP:0025336	Delayed ability to sit	HP:0040282	ORPHA:370997
1605	DAG1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:899
1605	DAG1	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:899
1605	DAG1	HP:0001328	Specific learning disability	HP:0040281	ORPHA:899
1605	DAG1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:899
1605	DAG1	HP:0001344	Absent speech	HP:0040282	ORPHA:370997
1605	DAG1	HP:0001344	Absent speech	2/2	OMIM:616538
1605	DAG1	HP:0001339	Lissencephaly	HP:0040281	ORPHA:899
1605	DAG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616538
1605	DAG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613818
1605	DAG1	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:899
1605	DAG1	HP:0001302	Pachygyria	HP:0040281	ORPHA:899
1605	DAG1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040282	ORPHA:370997
1605	DAG1	HP:0001320	Cerebellar vermis hypoplasia	2/2	OMIM:616538
1605	DAG1	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:899
1605	DAG1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:899
1605	DAG1	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:899
1605	DAG1	HP:0000175	Cleft palate	HP:0040283	ORPHA:899
1605	DAG1	HP:0008981	Calf muscle hypertrophy	HP:0040282	ORPHA:280333
1605	DAG1	HP:0008947	Floppy infant	HP:0040282	ORPHA:370997
1605	DAG1	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	HP:0040281	ORPHA:899
1605	DAG1	HP:0003325	Limb-girdle muscle weakness	1/1	OMIM:613818
1605	DAG1	HP:0003391	Gowers sign	-	OMIM:613818
1605	DAG1	HP:0003391	Gowers sign	HP:0040283	ORPHA:280333
1605	DAG1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:370997
1605	DAG1	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:616538
1605	DAG1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:370997
1605	DAG1	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:899
1605	DAG1	HP:0002119	Ventriculomegaly	2/2	OMIM:616538
1605	DAG1	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:370997
1605	DAG1	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:899
1605	DAG1	HP:0002126	Polymicrogyria	2/2	OMIM:616538
1605	DAG1	HP:0010508	Metatarsus valgus	HP:0040281	ORPHA:899
1605	DAG1	HP:0003593	Infantile onset	2/2	OMIM:616538
1605	DAG1	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:899
1605	DAG1	HP:0003551	Difficulty climbing stairs	1/1	OMIM:613818
1605	DAG1	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:280333
1605	DAG1	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:899
1605	DAG1	HP:0003560	Muscular dystrophy	-	OMIM:613818
1605	DAG1	HP:0003560	Muscular dystrophy	-	OMIM:616538
1605	DAG1	HP:0003557	Increased variability in muscle fiber diameter	2/2	OMIM:616538
1605	DAG1	HP:0008331	Elevated creatine kinase after exercise	-	ORPHA:206599
1605	DAG1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:370997
1605	DAG1	HP:0002350	Cerebellar cyst	-	OMIM:616538
1605	DAG1	HP:0002350	Cerebellar cyst	HP:0040282	ORPHA:370997
1605	DAG1	HP:0002317	Unsteady gait	HP:0040282	ORPHA:280333
1605	DAG1	HP:0002317	Unsteady gait	1/1	OMIM:613818
1605	DAG1	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040281	ORPHA:899
1605	DAG1	HP:0031882	Agyria	-	OMIM:616538
1605	DAG1	HP:0031882	Agyria	HP:0040282	ORPHA:370997
1605	DAG1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:899
1605	DAG1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:899
1605	DAG1	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:370997
1605	DAG1	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:370997
1605	DAG1	HP:0000750	Delayed speech and language development	1/1	OMIM:613818
1605	DAG1	HP:0011463	Childhood onset	1/1	OMIM:613818
1605	DAG1	HP:0003198	Myopathy	-	ORPHA:206599
1605	DAG1	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040281	ORPHA:899
1605	DAG1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:280333
1605	DAG1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:370997
1605	DAG1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040280	ORPHA:206599
1605	DAG1	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:613818
1605	DAG1	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:616538
1605	DAG1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:899
1605	DAG1	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040281	ORPHA:899
1605	DAG1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:899
1605	DAG1	HP:0000256	Macrocephaly	-	OMIM:616538
1605	DAG1	HP:0006466	Ankle flexion contracture	1/1	OMIM:613818
1605	DAG1	HP:0006466	Ankle flexion contracture	HP:0040283	ORPHA:280333
1605	DAG1	HP:0007731	Chorioretinal dysplasia	HP:0040281	ORPHA:899
1605	DAG1	HP:0030099	Reduced muscle fiber alpha dystroglycan	HP:0040281	ORPHA:280333
1605	DAG1	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:899
1605	DAG1	HP:0000238	Hydrocephalus	-	OMIM:616538
1605	DAG1	HP:0000252	Microcephaly	HP:0040283	ORPHA:899
1605	DAG1	HP:0002878	Respiratory failure	-	OMIM:616538
1605	DAG1	HP:0030046	Hypoglycosylation of alpha-dystroglycan	HP:0040282	ORPHA:370997
1605	DAG1	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1/1	OMIM:613818
1605	DAG1	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:280333
1605	DAG1	HP:0002938	Lumbar hyperlordosis	1/1	OMIM:613818
1605	DAG1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:899
1605	DAG1	HP:0011003	High myopia	HP:0040283	ORPHA:370997
1605	DAG1	HP:0011003	High myopia	1/2	OMIM:616538
1605	DAG1	HP:0000369	Low-set ears	HP:0040283	ORPHA:899
1605	DAG1	HP:0007957	Corneal opacity	HP:0040282	ORPHA:899
1605	DAG1	HP:0011197	EEG with focal spike waves	HP:0040282	ORPHA:370997
1605	DAG1	HP:0007973	Retinal dysplasia	HP:0040281	ORPHA:899
1605	DAG1	HP:0000482	Microcornea	HP:0040283	ORPHA:899
1605	DAG1	HP:0012400	Abnormal circulating aldolase concentration	HP:0040281	ORPHA:899
1605	DAG1	HP:0000411	Protruding ear	HP:0040283	ORPHA:899
1605	DAG1	HP:0006785	Limb-girdle muscular dystrophy	HP:0040281	ORPHA:280333
1605	DAG1	HP:0000518	Cataract	HP:0040283	ORPHA:370997
1605	DAG1	HP:0000518	Cataract	HP:0040283	ORPHA:899
1605	DAG1	HP:0000518	Cataract	1/2	OMIM:616538
1605	DAG1	HP:0000528	Anophthalmia	HP:0040282	ORPHA:899
1605	DAG1	HP:0000501	Glaucoma	HP:0040282	ORPHA:899
1605	DAG1	HP:0000501	Glaucoma	-	OMIM:616538
1605	DAG1	HP:0000587	Abnormal optic nerve morphology	HP:0040281	ORPHA:899
1605	DAG1	HP:0000557	Buphthalmos	HP:0040283	ORPHA:370997
1605	DAG1	HP:0000557	Buphthalmos	1/2	OMIM:616538
1605	DAG1	HP:0000556	Retinal dystrophy	HP:0040283	ORPHA:370997
1605	DAG1	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:899
1605	DAG1	HP:0000556	Retinal dystrophy	2/2	OMIM:616538
1605	DAG1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:899
1605	DAG1	HP:0000568	Microphthalmia	-	OMIM:616538
1605	DAG1	HP:0000541	Retinal detachment	HP:0040281	ORPHA:899
1610	DAO	HP:0002463	Language impairment	HP:0040283	ORPHA:803
1610	DAO	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
1610	DAO	HP:0001257	Spasticity	HP:0040282	ORPHA:803
1610	DAO	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
1610	DAO	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
1610	DAO	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
1610	DAO	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
1610	DAO	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
1610	DAO	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
1610	DAO	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
1610	DAO	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
1610	DAO	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
1610	DAO	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
1610	DAO	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
1610	DAO	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
1610	DAO	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
1610	DAO	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
1610	DAO	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
1610	DAO	HP:0003470	Paralysis	HP:0040282	ORPHA:803
1610	DAO	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
1610	DAO	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
1610	DAO	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
1610	DAO	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
1610	DAO	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
1610	DAO	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
1610	DAO	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
1610	DAO	HP:0002307	Drooling	HP:0040282	ORPHA:803
1610	DAO	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
1610	DAO	HP:0004326	Cachexia	HP:0040283	ORPHA:803
1610	DAO	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
1610	DAO	HP:0000739	Anxiety	HP:0040282	ORPHA:803
1610	DAO	HP:0000716	Depression	HP:0040282	ORPHA:803
1610	DAO	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
1610	DAO	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
1610	DAO	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
1610	DAO	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
1610	DAO	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
1610	DAO	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
1610	DAO	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
1610	DAO	HP:0012378	Fatigue	HP:0040282	ORPHA:803
1610	DAO	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
1610	DAO	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
1610	DAO	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
1610	DAO	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
1610	DAO	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
1610	DAO	HP:0001824	Weight loss	HP:0040282	ORPHA:803
1610	DAO	HP:0012531	Pain	HP:0040282	ORPHA:803
1615	DARS1	HP:0001270	Motor delay	3/10	OMIM:615281
1615	DARS1	HP:0001256	Intellectual disability, mild	4/10	OMIM:615281
1615	DARS1	HP:0001250	Seizure	2/10	OMIM:615281
1615	DARS1	HP:0001251	Ataxia	4/9	OMIM:615281
1615	DARS1	HP:0001264	Spastic diplegia	3/10	OMIM:615281
1615	DARS1	HP:0001260	Dysarthria	3/10	OMIM:615281
1615	DARS1	HP:0001348	Brisk reflexes	10/10	OMIM:615281
1615	DARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615281
1615	DARS1	HP:0008936	Axial hypotonia	8/10	OMIM:615281
1615	DARS1	HP:0002061	Lower limb spasticity	10/10	OMIM:615281
1615	DARS1	HP:0002079	Hypoplasia of the corpus callosum	8/10	OMIM:615281
1615	DARS1	HP:0002144	Tethered cord	1/10	OMIM:615281
1615	DARS1	HP:0003487	Babinski sign	10/10	OMIM:615281
1615	DARS1	HP:0003429	CNS hypomyelination	5/9	OMIM:615281
1615	DARS1	HP:0003593	Infantile onset	9/10	OMIM:615281
1615	DARS1	HP:0010729	Cherry red spot of the macula	1/10	OMIM:615281
1615	DARS1	HP:0003676	Progressive	-	OMIM:615281
1615	DARS1	HP:0002352	Leukoencephalopathy	-	OMIM:615281
1615	DARS1	HP:0000639	Nystagmus	5/10	OMIM:615281
1615	DARS1	HP:0000737	Irritability	2/10	OMIM:615281
1615	DARS1	HP:0011463	Childhood onset	1/10	OMIM:615281
1615	DARS1	HP:0003298	Spina bifida occulta	1/10	OMIM:615281
1615	DARS1	HP:0000543	Optic disc pallor	3/10	OMIM:615281
1617	DAZ1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:1646
1617	DAZ1	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:1646
1617	DAZ1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1646
1617	DAZ1	HP:0000027	Azoospermia	-	OMIM:415000
1617	DAZ1	HP:0001450	Y-linked inheritance	-	OMIM:415000
1617	DAZ1	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:1646
1617	DAZ1	HP:0011462	Young adult onset	-	OMIM:415000
1617	DAZ1	HP:0000798	Oligozoospermia	HP:0040282	ORPHA:1646
1617	DAZ1	HP:0003251	Male infertility	HP:0040281	ORPHA:1646
1617	DAZ1	HP:0003251	Male infertility	-	OMIM:415000
1621	DBH	HP:0001156	Brachydactyly	2/6	OMIM:223360
1621	DBH	HP:6000556	Reduced circulating dopamine beta-hydroxylase activity	2/2	OMIM:223360
1621	DBH	HP:0001278	Orthostatic hypotension	HP:0040281	ORPHA:230
1621	DBH	HP:0001278	Orthostatic hypotension	6/6	OMIM:223360
1621	DBH	HP:0001279	Syncope	HP:0040282	ORPHA:230
1621	DBH	HP:0001250	Seizure	2/6	OMIM:223360
1621	DBH	HP:0001252	Hypotonia	HP:0040283	ORPHA:230
1621	DBH	HP:0001252	Hypotonia	2/6	OMIM:223360
1621	DBH	HP:0001265	Hyporeflexia	2/6	OMIM:223360
1621	DBH	HP:0001382	Joint hypermobility	3/6	OMIM:223360
1621	DBH	HP:0000017	Nocturia	HP:0040283	ORPHA:230
1621	DBH	HP:0000017	Nocturia	4/6	OMIM:223360
1621	DBH	HP:0000007	Autosomal recessive inheritance	-	OMIM:223360
1621	DBH	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:230
1621	DBH	HP:0001488	Bilateral ptosis	HP:0040281	ORPHA:230
1621	DBH	HP:0002014	Diarrhea	HP:0040283	ORPHA:230
1621	DBH	HP:0002013	Vomiting	HP:0040283	ORPHA:230
1621	DBH	HP:0005964	Intermittent hypothermia	-	OMIM:223360
1621	DBH	HP:0002094	Dyspnea	HP:0040283	ORPHA:230
1621	DBH	HP:0002045	Hypothermia	HP:0040283	ORPHA:230
1621	DBH	HP:6000234	Elevated circulating dihydroxyphenylacetic acid concentration	2/2	OMIM:223360
1621	DBH	HP:0008202	Reduced circulating prolactin concentration	4/6	OMIM:223360
1621	DBH	HP:0003577	Congenital onset	6/6	OMIM:223360
1621	DBH	HP:0100749	Chest pain	HP:0040283	ORPHA:230
1621	DBH	HP:0011979	Elevated urinary dopamine level	HP:0040281	ORPHA:230
1621	DBH	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:230
1621	DBH	HP:0002321	Vertigo	HP:0040283	ORPHA:230
1621	DBH	HP:0001944	Dehydration	HP:0040283	ORPHA:230
1621	DBH	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:230
1621	DBH	HP:0000622	Blurred vision	HP:0040283	ORPHA:230
1621	DBH	HP:0001903	Anemia	HP:0040282	ORPHA:230
1621	DBH	HP:0009020	Exercise-induced muscle fatigue	HP:0040282	ORPHA:230
1621	DBH	HP:0012670	Orthostatic syncope	HP:0040283	ORPHA:230
1621	DBH	HP:0001998	Neonatal hypoglycemia	1/6	OMIM:223360
1621	DBH	HP:0003115	Abnormal EKG	HP:0040283	ORPHA:230
1621	DBH	HP:0003138	Increased blood urea nitrogen	HP:0040282	ORPHA:230
1621	DBH	HP:0003138	Increased blood urea nitrogen	2/6	OMIM:223360
1621	DBH	HP:0000855	Insulin resistance	HP:0040284	ORPHA:230
1621	DBH	HP:0000842	Hyperinsulinemia	HP:0040284	ORPHA:230
1621	DBH	HP:0012877	Retrograde ejaculation	HP:0040282	ORPHA:230
1621	DBH	HP:0012877	Retrograde ejaculation	2/2	OMIM:223360
1621	DBH	HP:0003259	Elevated circulating creatinine concentration	HP:0040282	ORPHA:230
1621	DBH	HP:6000994	Lack of pupillary response to hydroxyamphetamine	-	OMIM:223360
1621	DBH	HP:0005110	Atrial fibrillation	1/6	OMIM:223360
1621	DBH	HP:0000218	High palate	3/6	OMIM:223360
1621	DBH	HP:0012378	Fatigue	HP:0040282	ORPHA:230
1621	DBH	HP:0012384	Rhinitis	HP:0040281	ORPHA:230
1621	DBH	HP:0002917	Hypomagnesemia	2/6	OMIM:223360
1621	DBH	HP:0030319	Weakness of facial musculature	2/6	OMIM:223360
1621	DBH	HP:0001742	Nasal congestion	3/6	OMIM:223360
1621	DBH	HP:0000508	Ptosis	4/6	OMIM:223360
1629	DBT	HP:0001254	Lethargy	1/1	OMIM:620699
1629	DBT	HP:0000007	Autosomal recessive inheritance	-	OMIM:620699
1629	DBT	HP:0002179	Opisthotonus	1/1	OMIM:620699
1629	DBT	HP:0003623	Neonatal onset	1/2	OMIM:620699
1629	DBT	HP:0001993	Ketoacidosis	1/1	OMIM:620699
1629	DBT	HP:0011463	Childhood onset	1/2	OMIM:620699
1630	DCC	HP:0002492	Abnormal corticospinal tract morphology	HP:0040282	ORPHA:238722
1630	DCC	HP:0025101	Dysgenesis of the hippocampus	HP:0040283	ORPHA:238722
1630	DCC	HP:0009921	Duane anomaly	HP:0040282	ORPHA:2744
1630	DCC	HP:0001274	Agenesis of corpus callosum	4/4	OMIM:617542
1630	DCC	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:238722
1630	DCC	HP:0001274	Agenesis of corpus callosum	HP:0040284	OMIM:157600
1630	DCC	HP:0001269	Hemiparesis	1/4	OMIM:617542
1630	DCC	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
1630	DCC	HP:0001256	Intellectual disability, mild	HP:0040284	OMIM:157600
1630	DCC	HP:0001256	Intellectual disability, mild	HP:0040284	ORPHA:238722
1630	DCC	HP:0001250	Seizure	HP:0040283	ORPHA:2744
1630	DCC	HP:0001250	Seizure	1/4	OMIM:617542
1630	DCC	HP:0001250	Seizure	HP:0040283	ORPHA:478
1630	DCC	HP:0001252	Hypotonia	HP:0040282	ORPHA:2744
1630	DCC	HP:0001252	Hypotonia	2/4	OMIM:617542
1630	DCC	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
1630	DCC	HP:0001251	Ataxia	HP:0040283	ORPHA:478
1630	DCC	HP:0001249	Intellectual disability	3/4	OMIM:617542
1630	DCC	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
1630	DCC	HP:0001263	Global developmental delay	4/4	OMIM:617542
1630	DCC	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
1630	DCC	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
1630	DCC	HP:0033646	Absent hippocampal commissure	3/3	OMIM:617542
1630	DCC	HP:0033645	Midline brainstem cleft	3/3	OMIM:617542
1630	DCC	HP:0003829	Typified by incomplete penetrance	-	OMIM:157600
1630	DCC	HP:0032327	Interhemispheric cyst	2/4	OMIM:617542
1630	DCC	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:238722
1630	DCC	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
1630	DCC	HP:0000054	Micropenis	HP:0040281	ORPHA:478
1630	DCC	HP:0001347	Hyperreflexia	1/4	OMIM:617542
1630	DCC	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
1630	DCC	HP:0001328	Specific learning disability	HP:0040283	ORPHA:238722
1630	DCC	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
1630	DCC	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
1630	DCC	HP:0000007	Autosomal recessive inheritance	-	OMIM:617542
1630	DCC	HP:0001335	Bimanual synkinesia	HP:0040282	ORPHA:238722
1630	DCC	HP:0001335	Bimanual synkinesia	-	OMIM:157600
1630	DCC	HP:0001335	Bimanual synkinesia	2/3	OMIM:617542
1630	DCC	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
1630	DCC	HP:0001337	Tremor	HP:0040283	ORPHA:478
1630	DCC	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
1630	DCC	HP:0000006	Autosomal dominant inheritance	-	OMIM:157600
1630	DCC	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
1630	DCC	HP:0002650	Scoliosis	HP:0040281	ORPHA:2744
1630	DCC	HP:0002650	Scoliosis	3/4	OMIM:617542
1630	DCC	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
1630	DCC	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
1630	DCC	HP:0012110	Hypoplasia of the pons	3/3	OMIM:617542
1630	DCC	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
1630	DCC	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
1630	DCC	HP:0001442	Typified by somatic mosaicism	-	OMIM:133239
1630	DCC	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
1630	DCC	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
1630	DCC	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:2744
1630	DCC	HP:0003326	Myalgia	HP:0040283	ORPHA:238722
1630	DCC	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:2744
1630	DCC	HP:0003388	Easy fatigability	HP:0040282	ORPHA:238722
1630	DCC	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
1630	DCC	HP:0003593	Infantile onset	1/4	OMIM:617542
1630	DCC	HP:0003593	Infantile onset	-	OMIM:157600
1630	DCC	HP:0003577	Congenital onset	2/4	OMIM:617542
1630	DCC	HP:0010664	Fusion of the left and right thalami	2/3	OMIM:617542
1630	DCC	HP:0007010	Poor fine motor coordination	HP:0040282	ORPHA:238722
1630	DCC	HP:0003508	Proportionate short stature	HP:0040282	ORPHA:2744
1630	DCC	HP:0002317	Unsteady gait	1/4	OMIM:617542
1630	DCC	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
1630	DCC	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
1630	DCC	HP:0002312	Clumsiness	HP:0040282	ORPHA:238722
1630	DCC	HP:0005584	Renal cell carcinoma	-	OMIM:114500
1630	DCC	HP:0000639	Nystagmus	HP:0040282	ORPHA:2744
1630	DCC	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
1630	DCC	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
1630	DCC	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
1630	DCC	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
1630	DCC	HP:0100021	Cerebral palsy	HP:0040284	ORPHA:238722
1630	DCC	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:238722
1630	DCC	HP:0000750	Delayed speech and language development	3/4	OMIM:617542
1630	DCC	HP:0011459	Esophageal carcinoma	-	OMIM:133239
1630	DCC	HP:0011461	Fetal onset	1/4	OMIM:617542
1630	DCC	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
1630	DCC	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
1630	DCC	HP:0003198	Myopathy	HP:0040282	ORPHA:2744
1630	DCC	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
1630	DCC	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
1630	DCC	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
1630	DCC	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
1630	DCC	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
1630	DCC	HP:0002808	Kyphosis	HP:0040281	ORPHA:2744
1630	DCC	HP:0000238	Hydrocephalus	1/4	OMIM:617542
1630	DCC	HP:0000252	Microcephaly	HP:0040282	ORPHA:2744
1630	DCC	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
1630	DCC	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
1630	DCC	HP:0001513	Obesity	HP:0040283	ORPHA:478
1630	DCC	HP:0007817	Horizontal supranuclear gaze palsy	HP:0040281	ORPHA:2744
1630	DCC	HP:0007817	Horizontal supranuclear gaze palsy	3/4	OMIM:617542
1630	DCC	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
1630	DCC	HP:0002949	Fused cervical vertebrae	HP:0040284	ORPHA:238722
1630	DCC	HP:0030301	Abnormality of the anterior commissure	3/3	OMIM:617542
1630	DCC	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2744
1630	DCC	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
1630	DCC	HP:0000486	Strabismus	HP:0040282	ORPHA:2744
1630	DCC	HP:0000458	Anosmia	HP:0040281	ORPHA:478
1630	DCC	HP:0000470	Short neck	HP:0040282	ORPHA:2744
1630	DCC	HP:0001763	Pes planus	HP:0040283	ORPHA:478
1630	DCC	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
1630	DCC	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
1630	DCC	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
1630	DCC	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
1630	DCC	HP:0000508	Ptosis	HP:0040283	ORPHA:478
1630	DCC	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
1630	DCC	HP:0000505	Visual impairment	HP:0040282	ORPHA:2744
1630	DCC	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
1634	DCN	HP:0001131	Corneal dystrophy	11/11	OMIM:610048
1634	DCN	HP:0000006	Autosomal dominant inheritance	-	OMIM:610048
1634	DCN	HP:0200020	Corneal erosion	0/11	OMIM:610048
1634	DCN	HP:0003623	Neonatal onset	11/11	OMIM:610048
1634	DCN	HP:0000613	Photophobia	0/11	OMIM:610048
1634	DCN	HP:0011487	Increased corneal thickness	-	OMIM:610048
1634	DCN	HP:0007709	Band-shaped corneal dystrophy	1/4	OMIM:610048
1634	DCN	HP:0000486	Strabismus	4/11	OMIM:610048
1634	DCN	HP:0000529	Progressive visual loss	-	OMIM:610048
1634	DCN	HP:0000501	Glaucoma	3/11	OMIM:610048
1636	ACE	HP:0008660	Renotubular dysgenesis	-	OMIM:267430
1636	ACE	HP:0000079	Abnormality of the urinary system	-	OMIM:267430
1636	ACE	HP:0000007	Autosomal recessive inheritance	-	OMIM:267430
1636	ACE	HP:0002615	Hypotension	-	OMIM:267430
1636	ACE	HP:0002009	Potter facies	-	OMIM:267430
1636	ACE	HP:0002089	Pulmonary hypoplasia	-	OMIM:267430
1636	ACE	HP:0002093	Respiratory insufficiency	-	OMIM:267430
1636	ACE	HP:0100519	Anuria	-	OMIM:267430
1636	ACE	HP:0004492	Widely patent fontanelles and sutures	-	OMIM:267430
1636	ACE	HP:0000252	Microcephaly	-	OMIM:267430
1636	ACE	HP:0001562	Oligohydramnios	-	OMIM:267430
1638	DCT	HP:0000007	Autosomal recessive inheritance	-	OMIM:619165
1638	DCT	HP:0007663	Reduced visual acuity	2/2	OMIM:619165
1638	DCT	HP:0003577	Congenital onset	1/1	OMIM:619165
1638	DCT	HP:0001010	Hypopigmentation of the skin	2/2	OMIM:619165
1638	DCT	HP:0005599	Hypopigmentation of hair	2/2	OMIM:619165
1638	DCT	HP:0000639	Nystagmus	2/2	OMIM:619165
1638	DCT	HP:0000613	Photophobia	1/2	OMIM:619165
1638	DCT	HP:0012805	Iris transillumination defect	2/2	OMIM:619165
1638	DCT	HP:0040030	Chorioretinal hypopigmentation	2/2	OMIM:619165
1638	DCT	HP:0007750	Hypoplasia of the fovea	1/2	OMIM:619165
1639	DCTN1	HP:0002463	Language impairment	HP:0040283	ORPHA:803
1639	DCTN1	HP:0002460	Distal muscle weakness	-	OMIM:607641
1639	DCTN1	HP:0002476	Primitive reflex	3/3	OMIM:168605
1639	DCTN1	HP:0007311	Short stepped shuffling gait	-	OMIM:168605
1639	DCTN1	HP:0001260	Dysarthria	-	OMIM:168605
1639	DCTN1	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
1639	DCTN1	HP:0001260	Dysarthria	-	OMIM:105400
1639	DCTN1	HP:0001257	Spasticity	HP:0040282	ORPHA:803
1639	DCTN1	HP:0001257	Spasticity	-	OMIM:105400
1639	DCTN1	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
1639	DCTN1	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
1639	DCTN1	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:105400
1639	DCTN1	HP:0007340	Lower limb muscle weakness	-	OMIM:607641
1639	DCTN1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
1639	DCTN1	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
1639	DCTN1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
1639	DCTN1	HP:0001347	Hyperreflexia	-	OMIM:105400
1639	DCTN1	HP:0001332	Dystonia	2/8	OMIM:168605
1639	DCTN1	HP:0001324	Muscle weakness	-	OMIM:105400
1639	DCTN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:105400
1639	DCTN1	HP:0001337	Tremor	HP:0040281	ORPHA:178509
1639	DCTN1	HP:0001337	Tremor	2/6	OMIM:168605
1639	DCTN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:607641
1639	DCTN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:105400
1639	DCTN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:168605
1639	DCTN1	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
1639	DCTN1	HP:0002615	Hypotension	HP:0040283	ORPHA:178509
1639	DCTN1	HP:0001300	Parkinsonism	HP:0040281	ORPHA:178509
1639	DCTN1	HP:0001300	Parkinsonism	8/8	OMIM:168605
1639	DCTN1	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
1639	DCTN1	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
1639	DCTN1	HP:0002791	Hypoventilation	3/5	OMIM:168605
1639	DCTN1	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
1639	DCTN1	HP:0002015	Dysphagia	-	OMIM:105400
1639	DCTN1	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
1639	DCTN1	HP:0005943	Respiratory arrest	3/6	OMIM:168605
1639	DCTN1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
1639	DCTN1	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
1639	DCTN1	HP:0002093	Respiratory insufficiency	-	OMIM:168605
1639	DCTN1	HP:0002067	Bradykinesia	-	OMIM:168605
1639	DCTN1	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
1639	DCTN1	HP:0003394	Muscle spasm	-	OMIM:105400
1639	DCTN1	HP:0002063	Rigidity	6/6	OMIM:168605
1639	DCTN1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:178509
1639	DCTN1	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
1639	DCTN1	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
1639	DCTN1	HP:0002145	Frontotemporal dementia	-	OMIM:168605
1639	DCTN1	HP:0003470	Paralysis	HP:0040282	ORPHA:803
1639	DCTN1	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
1639	DCTN1	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
1639	DCTN1	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
1639	DCTN1	HP:0010535	Sleep apnea	-	OMIM:105400
1639	DCTN1	HP:0003581	Adult onset	-	OMIM:607641
1639	DCTN1	HP:0003581	Adult onset	-	OMIM:105400
1639	DCTN1	HP:0003581	Adult onset	6/6	OMIM:168605
1639	DCTN1	HP:0100785	Insomnia	-	OMIM:168605
1639	DCTN1	HP:0007024	Pseudobulbar paralysis	-	OMIM:105400
1639	DCTN1	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
1639	DCTN1	HP:0002380	Fasciculations	-	OMIM:105400
1639	DCTN1	HP:0002398	Degeneration of anterior horn cells	-	OMIM:105400
1639	DCTN1	HP:0002366	Abnormal lower motor neuron morphology	-	OMIM:607641
1639	DCTN1	HP:0003693	Distal amyotrophy	-	OMIM:607641
1639	DCTN1	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
1639	DCTN1	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:178509
1639	DCTN1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
1639	DCTN1	HP:0002360	Sleep abnormality	-	OMIM:168605
1639	DCTN1	HP:0003677	Slowly progressive	-	OMIM:607641
1639	DCTN1	HP:0003678	Rapidly progressive	-	OMIM:168605
1639	DCTN1	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
1639	DCTN1	HP:0002314	Degeneration of the lateral corticospinal tracts	-	OMIM:105400
1639	DCTN1	HP:0007110	Central hypoventilation	HP:0040281	ORPHA:178509
1639	DCTN1	HP:0007110	Central hypoventilation	-	OMIM:168605
1639	DCTN1	HP:0002307	Drooling	HP:0040282	ORPHA:803
1639	DCTN1	HP:0002304	Akinesia	6/6	OMIM:168605
1639	DCTN1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
1639	DCTN1	HP:0004326	Cachexia	HP:0040283	ORPHA:803
1639	DCTN1	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
1639	DCTN1	HP:0000751	Personality changes	HP:0040283	ORPHA:178509
1639	DCTN1	HP:0000739	Anxiety	HP:0040282	ORPHA:803
1639	DCTN1	HP:0000739	Anxiety	2/6	OMIM:168605
1639	DCTN1	HP:0000734	Disinhibition	2/5	OMIM:168605
1639	DCTN1	HP:0000741	Apathy	HP:0040281	ORPHA:178509
1639	DCTN1	HP:0000741	Apathy	4/5	OMIM:168605
1639	DCTN1	HP:0000719	Inappropriate behavior	-	OMIM:168605
1639	DCTN1	HP:0000716	Depression	HP:0040281	ORPHA:178509
1639	DCTN1	HP:0000716	Depression	HP:0040282	ORPHA:803
1639	DCTN1	HP:0000716	Depression	2/6	OMIM:168605
1639	DCTN1	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
1639	DCTN1	HP:0000710	Hyperorality	2/5	OMIM:168605
1639	DCTN1	HP:0000726	Dementia	HP:0040283	ORPHA:178509
1639	DCTN1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
1639	DCTN1	HP:0009130	Hand muscle atrophy	-	OMIM:607641
1639	DCTN1	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
1639	DCTN1	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
1639	DCTN1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
1639	DCTN1	HP:0003202	Skeletal muscle atrophy	-	OMIM:105400
1639	DCTN1	HP:0000298	Mask-like facies	-	OMIM:168605
1639	DCTN1	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
1639	DCTN1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
1639	DCTN1	HP:0012378	Fatigue	HP:0040282	ORPHA:803
1639	DCTN1	HP:0001605	Vocal cord paralysis	-	OMIM:607641
1639	DCTN1	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
1639	DCTN1	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
1639	DCTN1	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
1639	DCTN1	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
1639	DCTN1	HP:0001621	Weak voice	-	OMIM:168605
1639	DCTN1	HP:0030319	Weakness of facial musculature	-	OMIM:607641
1639	DCTN1	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
1639	DCTN1	HP:0030237	Hand muscle weakness	-	OMIM:607641
1639	DCTN1	HP:0031589	Suicidal ideation	1/6	OMIM:168605
1639	DCTN1	HP:0000511	Vertical supranuclear gaze palsy	-	OMIM:168605
1639	DCTN1	HP:0001824	Weight loss	HP:0040281	ORPHA:178509
1639	DCTN1	HP:0001824	Weight loss	HP:0040282	ORPHA:803
1639	DCTN1	HP:0001824	Weight loss	-	OMIM:168605
1639	DCTN1	HP:0012531	Pain	HP:0040282	ORPHA:803
1641	DCX	HP:0002463	Language impairment	HP:0040281	ORPHA:2148
1641	DCX	HP:0001274	Agenesis of corpus callosum	-	OMIM:300067
1641	DCX	HP:0001270	Motor delay	-	OMIM:300067
1641	DCX	HP:0001250	Seizure	-	OMIM:300067
1641	DCX	HP:0001250	Seizure	HP:0040281	ORPHA:2148
1641	DCX	HP:0001251	Ataxia	-	OMIM:300067
1641	DCX	HP:0001249	Intellectual disability	-	OMIM:300067
1641	DCX	HP:0001260	Dysarthria	-	OMIM:300067
1641	DCX	HP:0001257	Spasticity	-	OMIM:300067
1641	DCX	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:2148
1641	DCX	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:2148
1641	DCX	HP:0003829	Typified by incomplete penetrance	-	OMIM:300067
1641	DCX	HP:0003808	Abnormal muscle tone	HP:0040282	ORPHA:2148
1641	DCX	HP:0001371	Flexion contracture	HP:0040282	ORPHA:2148
1641	DCX	HP:0000054	Micropenis	-	OMIM:300067
1641	DCX	HP:0008897	Postnatal growth retardation	-	OMIM:300067
1641	DCX	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:2148
1641	DCX	HP:0001339	Lissencephaly	-	OMIM:300067
1641	DCX	HP:0001302	Pachygyria	-	OMIM:300067
1641	DCX	HP:0001302	Pachygyria	HP:0040282	ORPHA:2148
1641	DCX	HP:0002650	Scoliosis	HP:0040283	ORPHA:2148
1641	DCX	HP:0008936	Axial hypotonia	-	OMIM:300067
1641	DCX	HP:0001417	X-linked inheritance	-	OMIM:300067
1641	DCX	HP:0002015	Dysphagia	HP:0040283	ORPHA:2148
1641	DCX	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:2148
1641	DCX	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2148
1641	DCX	HP:0002197	Generalized-onset seizure	HP:0040282	ORPHA:2148
1641	DCX	HP:0003593	Infantile onset	-	OMIM:300067
1641	DCX	HP:0200134	Epileptic encephalopathy	HP:0040283	ORPHA:2148
1641	DCX	HP:0002282	Gray matter heterotopia	-	OMIM:300067
1641	DCX	HP:0007015	Poor gross motor coordination	HP:0040282	ORPHA:2148
1641	DCX	HP:0002339	Abnormal caudate nucleus morphology	HP:0040283	ORPHA:2148
1641	DCX	HP:0031882	Agyria	-	OMIM:300067
1641	DCX	HP:0031882	Agyria	HP:0040282	ORPHA:2148
1641	DCX	HP:0000639	Nystagmus	-	OMIM:300067
1641	DCX	HP:0012672	Akinetic mutism	HP:0040282	ORPHA:2148
1641	DCX	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:2148
1641	DCX	HP:0100021	Cerebral palsy	HP:0040282	ORPHA:2148
1641	DCX	HP:0000737	Irritability	HP:0040283	ORPHA:2148
1641	DCX	HP:0000713	Agitation	HP:0040283	ORPHA:2148
1641	DCX	HP:0000729	Autistic behavior	HP:0040283	ORPHA:2148
1641	DCX	HP:0000708	Atypical behavior	HP:0040281	ORPHA:2148
1641	DCX	HP:0012762	Cerebral white matter atrophy	HP:0040283	ORPHA:2148
1641	DCX	HP:0001522	Death in infancy	-	OMIM:300067
1641	DCX	HP:0002835	Aspiration	HP:0040283	ORPHA:2148
1641	DCX	HP:0012469	Infantile spasms	HP:0040282	ORPHA:2148
1641	DCX	HP:0012448	Delayed myelination	HP:0040283	ORPHA:2148
1641	DCX	HP:0005484	Secondary microcephaly	HP:0040283	ORPHA:2148
1641	DCX	HP:0012520	Dilation of Virchow-Robin spaces	HP:0040283	ORPHA:2148
1642	DDB1	HP:0020206	Simple ear	1/8	OMIM:619426
1642	DDB1	HP:0001252	Hypotonia	7/8	OMIM:619426
1642	DDB1	HP:0001249	Intellectual disability	8/8	OMIM:619426
1642	DDB1	HP:0000085	Horseshoe kidney	2/8	OMIM:619426
1642	DDB1	HP:0000072	Hydroureter	1/8	OMIM:619426
1642	DDB1	HP:0001385	Hip dysplasia	1/8	OMIM:619426
1642	DDB1	HP:0001382	Joint hypermobility	4/8	OMIM:619426
1642	DDB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619426
1642	DDB1	HP:0000143	Rectovaginal fistula	1/8	OMIM:619426
1642	DDB1	HP:0000154	Wide mouth	1/8	OMIM:619426
1642	DDB1	HP:0000126	Hydronephrosis	1/8	OMIM:619426
1642	DDB1	HP:0002020	Gastroesophageal reflux	1/8	OMIM:619426
1642	DDB1	HP:0011800	Midface retrusion	2/8	OMIM:619426
1642	DDB1	HP:0003593	Infantile onset	5/8	OMIM:619426
1642	DDB1	HP:0007018	Attention deficit hyperactivity disorder	1/8	OMIM:619426
1642	DDB1	HP:0020045	Esodeviation	1/8	OMIM:619426
1642	DDB1	HP:0010804	Tented upper lip vermilion	1/8	OMIM:619426
1642	DDB1	HP:0003621	Juvenile onset	2/8	OMIM:619426
1642	DDB1	HP:0000639	Nystagmus	1/8	OMIM:619426
1642	DDB1	HP:0000637	Long palpebral fissure	1/8	OMIM:619426
1642	DDB1	HP:0000601	Hypotelorism	1/8	OMIM:619426
1642	DDB1	HP:0034003	Broad medial eyebrow	2/8	OMIM:619426
1642	DDB1	HP:0011330	Metopic synostosis	1/8	OMIM:619426
1642	DDB1	HP:0000664	Synophrys	2/8	OMIM:619426
1642	DDB1	HP:0006989	Dysplastic corpus callosum	1/8	OMIM:619426
1642	DDB1	HP:0012745	Short palpebral fissure	1/8	OMIM:619426
1642	DDB1	HP:0000739	Anxiety	1/8	OMIM:619426
1642	DDB1	HP:0011463	Childhood onset	1/8	OMIM:619426
1642	DDB1	HP:0003196	Short nose	4/8	OMIM:619426
1642	DDB1	HP:0000821	Hypothyroidism	1/8	OMIM:619426
1642	DDB1	HP:0000286	Epicanthus	3/8	OMIM:619426
1642	DDB1	HP:0000278	Retrognathia	2/8	OMIM:619426
1642	DDB1	HP:0000293	Full cheeks	5/8	OMIM:619426
1642	DDB1	HP:0000219	Thin upper lip vermilion	2/8	OMIM:619426
1642	DDB1	HP:0001545	Anteriorly placed anus	2/8	OMIM:619426
1642	DDB1	HP:0002870	Obstructive sleep apnea	1/8	OMIM:619426
1642	DDB1	HP:0001513	Obesity	2/8	OMIM:619426
1642	DDB1	HP:0000369	Low-set ears	1/8	OMIM:619426
1642	DDB1	HP:0000403	Recurrent otitis media	2/8	OMIM:619426
1642	DDB1	HP:0000400	Macrotia	5/8	OMIM:619426
1642	DDB1	HP:0005280	Depressed nasal bridge	1/8	OMIM:619426
1642	DDB1	HP:0000463	Anteverted nares	1/8	OMIM:619426
1642	DDB1	HP:0000430	Underdeveloped nasal alae	2/8	OMIM:619426
1642	DDB1	HP:0000527	Long eyelashes	2/8	OMIM:619426
1642	DDB1	HP:0000506	Telecanthus	2/8	OMIM:619426
1642	DDB1	HP:0000582	Upslanted palpebral fissure	1/8	OMIM:619426
1642	DDB1	HP:0011228	Horizontal eyebrow	3/8	OMIM:619426
1642	DDB1	HP:0000574	Thick eyebrow	2/8	OMIM:619426
1642	DDB1	HP:0000537	Epicanthus inversus	2/8	OMIM:619426
1643	DDB2	HP:0001250	Seizure	HP:0040283	ORPHA:910
1643	DDB2	HP:0001251	Ataxia	HP:0040283	ORPHA:910
1643	DDB2	HP:0001257	Spasticity	HP:0040283	ORPHA:910
1643	DDB2	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:910
1643	DDB2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:910
1643	DDB2	HP:0002664	Neoplasm	HP:0040283	ORPHA:910
1643	DDB2	HP:0002671	Basal cell carcinoma	-	OMIM:278740
1643	DDB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:278740
1643	DDB2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:910
1643	DDB2	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:910
1643	DDB2	HP:0000135	Hypogonadism	HP:0040281	ORPHA:910
1643	DDB2	HP:0001480	Freckling	HP:0040281	ORPHA:910
1643	DDB2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:910
1643	DDB2	HP:0003355	Aminoaciduria	HP:0040283	ORPHA:910
1643	DDB2	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:910
1643	DDB2	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:910
1643	DDB2	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:910
1643	DDB2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:910
1643	DDB2	HP:0010649	Flat nasal alae	HP:0040283	ORPHA:910
1643	DDB2	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:910
1643	DDB2	HP:0001059	Pterygium	HP:0040283	ORPHA:910
1643	DDB2	HP:0001034	Hypermelanotic macule	HP:0040282	ORPHA:910
1643	DDB2	HP:0001029	Poikiloderma	-	OMIM:278740
1643	DDB2	HP:0001029	Poikiloderma	HP:0040281	ORPHA:910
1643	DDB2	HP:0002376	Developmental regression	HP:0040281	ORPHA:910
1643	DDB2	HP:0001009	Telangiectasia	-	OMIM:278740
1643	DDB2	HP:0001009	Telangiectasia	HP:0040281	ORPHA:910
1643	DDB2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:910
1643	DDB2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:910
1643	DDB2	HP:0001072	Thickened skin	HP:0040281	ORPHA:910
1643	DDB2	HP:0010783	Erythema	HP:0040282	ORPHA:910
1643	DDB2	HP:0009755	Ankyloblepharon	HP:0040283	ORPHA:910
1643	DDB2	HP:0006887	Intellectual disability, progressive	HP:0040281	ORPHA:910
1643	DDB2	HP:0000648	Optic atrophy	HP:0040281	ORPHA:910
1643	DDB2	HP:0000613	Photophobia	HP:0040283	ORPHA:910
1643	DDB2	HP:0000613	Photophobia	-	OMIM:278740
1643	DDB2	HP:0001945	Fever	HP:0040281	ORPHA:910
1643	DDB2	HP:0000621	Entropion	-	OMIM:278740
1643	DDB2	HP:0000621	Entropion	HP:0040283	ORPHA:910
1643	DDB2	HP:0000656	Ectropion	-	OMIM:278740
1643	DDB2	HP:0000656	Ectropion	HP:0040283	ORPHA:910
1643	DDB2	HP:0004322	Short stature	HP:0040283	ORPHA:910
1643	DDB2	HP:0004334	Dermal atrophy	-	OMIM:278740
1643	DDB2	HP:0004334	Dermal atrophy	HP:0040282	ORPHA:910
1643	DDB2	HP:0003079	Defective DNA repair after ultraviolet radiation damage	-	OMIM:278740
1643	DDB2	HP:0100012	Neoplasm of the eye	HP:0040283	ORPHA:910
1643	DDB2	HP:0012733	Macule	HP:0040282	ORPHA:910
1643	DDB2	HP:0012740	Papilloma	HP:0040282	ORPHA:910
1643	DDB2	HP:0004493	Craniofacial hyperostosis	HP:0040283	ORPHA:910
1643	DDB2	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:910
1643	DDB2	HP:0000992	Cutaneous photosensitivity	-	OMIM:278740
1643	DDB2	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:910
1643	DDB2	HP:0000958	Dry skin	HP:0040281	ORPHA:910
1643	DDB2	HP:0000963	Thin skin	HP:0040281	ORPHA:910
1643	DDB2	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:910
1643	DDB2	HP:0001596	Alopecia	HP:0040283	ORPHA:910
1643	DDB2	HP:0007759	Opacification of the corneal stroma	HP:0040283	ORPHA:910
1643	DDB2	HP:0002829	Arthralgia	HP:0040281	ORPHA:910
1643	DDB2	HP:0000252	Microcephaly	HP:0040283	ORPHA:910
1643	DDB2	HP:0002861	Melanoma	-	OMIM:278740
1643	DDB2	HP:0002861	Melanoma	HP:0040282	ORPHA:910
1643	DDB2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:910
1643	DDB2	HP:0012378	Fatigue	HP:0040281	ORPHA:910
1643	DDB2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:910
1643	DDB2	HP:0000498	Blepharitis	HP:0040283	ORPHA:910
1643	DDB2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:910
1643	DDB2	HP:0000486	Strabismus	HP:0040282	ORPHA:910
1643	DDB2	HP:0000491	Keratitis	-	OMIM:278740
1643	DDB2	HP:0000491	Keratitis	HP:0040282	ORPHA:910
1643	DDB2	HP:0006739	Squamous cell carcinoma of the skin	-	OMIM:278740
1643	DDB2	HP:0000518	Cataract	HP:0040282	ORPHA:910
1643	DDB2	HP:0000524	Conjunctival telangiectasia	HP:0040281	ORPHA:910
1643	DDB2	HP:0000509	Conjunctivitis	-	OMIM:278740
1644	DDC	HP:0003785	Decreased CSF homovanillic acid concentration	-	OMIM:608643
1644	DDC	HP:0003785	Decreased CSF homovanillic acid concentration	HP:0040281	ORPHA:35708
1644	DDC	HP:0002451	Limb dystonia	11/11	OMIM:608643
1644	DDC	HP:0002421	Poor head control	HP:0040282	ORPHA:35708
1644	DDC	HP:0001270	Motor delay	HP:0040282	ORPHA:35708
1644	DDC	HP:0001254	Lethargy	4/11	OMIM:608643
1644	DDC	HP:0001250	Seizure	HP:0040282	ORPHA:35708
1644	DDC	HP:0001252	Hypotonia	HP:0040282	ORPHA:35708
1644	DDC	HP:0001249	Intellectual disability	HP:0040282	ORPHA:35708
1644	DDC	HP:0001266	Choreoathetosis	-	OMIM:608643
1644	DDC	HP:0001260	Dysarthria	HP:0040283	ORPHA:35708
1644	DDC	HP:0001263	Global developmental delay	HP:0040281	ORPHA:35708
1644	DDC	HP:0001263	Global developmental delay	-	OMIM:608643
1644	DDC	HP:0002509	Limb hypertonia	HP:0040283	ORPHA:35708
1644	DDC	HP:0002509	Limb hypertonia	11/11	OMIM:608643
1644	DDC	HP:0001347	Hyperreflexia	8/11	OMIM:608643
1644	DDC	HP:0008872	Feeding difficulties in infancy	5/11	OMIM:608643
1644	DDC	HP:0001332	Dystonia	HP:0040282	ORPHA:35708
1644	DDC	HP:0000007	Autosomal recessive inheritance	-	OMIM:608643
1644	DDC	HP:0001337	Tremor	HP:0040284	ORPHA:35708
1644	DDC	HP:0001336	Myoclonus	8/11	OMIM:608643
1644	DDC	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:35708
1644	DDC	HP:0002615	Hypotension	HP:0040283	ORPHA:35708
1644	DDC	HP:0002615	Hypotension	-	OMIM:608643
1644	DDC	HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration	HP:0040281	ORPHA:35708
1644	DDC	HP:0008936	Axial hypotonia	11/11	OMIM:608643
1644	DDC	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:35708
1644	DDC	HP:0002020	Gastroesophageal reflux	9/11	OMIM:608643
1644	DDC	HP:0002019	Constipation	HP:0040283	ORPHA:35708
1644	DDC	HP:0002019	Constipation	5/11	OMIM:608643
1644	DDC	HP:0002014	Diarrhea	HP:0040284	ORPHA:35708
1644	DDC	HP:0002014	Diarrhea	5/11	OMIM:608643
1644	DDC	HP:0002015	Dysphagia	HP:0040283	ORPHA:35708
1644	DDC	HP:0005968	Temperature instability	-	OMIM:608643
1644	DDC	HP:0005964	Intermittent hypothermia	-	OMIM:608643
1644	DDC	HP:0003487	Babinski sign	HP:0040283	ORPHA:35708
1644	DDC	HP:0003487	Babinski sign	-	OMIM:608643
1644	DDC	HP:0002104	Apnea	6/11	OMIM:608643
1644	DDC	HP:0010553	Oculogyric crisis	HP:0040282	ORPHA:35708
1644	DDC	HP:0010553	Oculogyric crisis	11/11	OMIM:608643
1644	DDC	HP:0002267	Exaggerated startle response	7/11	OMIM:608643
1644	DDC	HP:0003593	Infantile onset	-	OMIM:608643
1644	DDC	HP:0100703	Tongue thrusting	9/11	OMIM:608643
1644	DDC	HP:0200085	Limb tremor	7/11	OMIM:608643
1644	DDC	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:35708
1644	DDC	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:35708
1644	DDC	HP:0002360	Sleep abnormality	7/11	OMIM:608643
1644	DDC	HP:0002375	Hypokinesia	HP:0040283	ORPHA:35708
1644	DDC	HP:0002374	Diminished movement	11/11	OMIM:608643
1644	DDC	HP:0002353	EEG abnormality	HP:0040283	ORPHA:35708
1644	DDC	HP:0100660	Dyskinesia	HP:0040283	ORPHA:35708
1644	DDC	HP:0002307	Drooling	HP:0040283	ORPHA:35708
1644	DDC	HP:0002305	Athetosis	11/11	OMIM:608643
1644	DDC	HP:6001002	Elevated urinary vanillactic acid level	-	OMIM:608643
1644	DDC	HP:0000643	Blepharospasm	5/11	OMIM:608643
1644	DDC	HP:0000616	Miosis	HP:0040283	ORPHA:35708
1644	DDC	HP:0000616	Miosis	-	OMIM:608643
1644	DDC	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:35708
1644	DDC	HP:0004322	Short stature	HP:0040283	ORPHA:35708
1644	DDC	HP:0000737	Irritability	HP:0040282	ORPHA:35708
1644	DDC	HP:0000737	Irritability	10/11	OMIM:608643
1644	DDC	HP:0000712	Emotional lability	10/11	OMIM:608643
1644	DDC	HP:0000729	Autistic behavior	HP:0040283	ORPHA:35708
1644	DDC	HP:0000708	Atypical behavior	HP:0040282	ORPHA:35708
1644	DDC	HP:0000870	Increased circulating prolactin concentration	HP:0040283	ORPHA:35708
1644	DDC	HP:0034392	Joint contracture	HP:0040284	ORPHA:35708
1644	DDC	HP:6000037	Reduced circulating aromatic L-amino acid decarboxylase activity	-	OMIM:608643
1644	DDC	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:35708
1644	DDC	HP:0000975	Hyperhidrosis	-	OMIM:608643
1644	DDC	HP:0000271	Abnormality of the face	-	OMIM:608643
1644	DDC	HP:0001508	Failure to thrive	HP:0040282	ORPHA:35708
1644	DDC	HP:0006543	Cardiorespiratory arrest	2/11	OMIM:608643
1644	DDC	HP:0000473	Torticollis	7/11	OMIM:608643
1644	DDC	HP:0001742	Nasal congestion	HP:0040283	ORPHA:35708
1644	DDC	HP:0001742	Nasal congestion	8/11	OMIM:608643
1644	DDC	HP:0000508	Ptosis	HP:0040283	ORPHA:35708
1644	DDC	HP:0000508	Ptosis	5/11	OMIM:608643
1646	AKR1C2	HP:0000062	Ambiguous genitalia	-	OMIM:614279
1646	AKR1C2	HP:0000037	Male pseudohermaphroditism	-	OMIM:614279
1646	AKR1C2	HP:0000028	Cryptorchidism	-	OMIM:614279
1646	AKR1C2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614279
1646	AKR1C2	HP:0012245	Sex reversal	-	OMIM:614279
1649	DDIT3	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:99967
1649	DDIT3	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:99967
1649	DDIT3	HP:0002027	Abdominal pain	HP:0040283	ORPHA:99967
1650	DDOST	HP:0007301	Oromotor apraxia	HP:0040281	ORPHA:300536
1650	DDOST	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:300536
1650	DDOST	HP:0001250	Seizure	HP:0040281	ORPHA:300536
1650	DDOST	HP:0001252	Hypotonia	1/1	OMIM:614507
1650	DDOST	HP:0001263	Global developmental delay	1/1	OMIM:614507
1650	DDOST	HP:0001397	Hepatic steatosis	HP:0040281	ORPHA:300536
1650	DDOST	HP:0000007	Autosomal recessive inheritance	-	OMIM:614507
1650	DDOST	HP:0001337	Tremor	HP:0040281	ORPHA:300536
1650	DDOST	HP:0410018	Recurrent ear infections	HP:0040281	ORPHA:300536
1650	DDOST	HP:0410018	Recurrent ear infections	1/1	OMIM:614507
1650	DDOST	HP:0001410	Decreased liver function	1/1	OMIM:614507
1650	DDOST	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:300536
1650	DDOST	HP:0002020	Gastroesophageal reflux	1/1	OMIM:614507
1650	DDOST	HP:0002019	Constipation	HP:0040281	ORPHA:300536
1650	DDOST	HP:0003429	CNS hypomyelination	HP:0040281	ORPHA:300536
1650	DDOST	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:300536
1650	DDOST	HP:0003593	Infantile onset	1/1	OMIM:614507
1650	DDOST	HP:0003642	Type I transferrin isoform profile	HP:0040281	ORPHA:300536
1650	DDOST	HP:0003642	Type I transferrin isoform profile	1/1	OMIM:614507
1650	DDOST	HP:0004322	Short stature	HP:0040281	ORPHA:300536
1650	DDOST	HP:0005616	Accelerated skeletal maturation	1/1	OMIM:614507
1650	DDOST	HP:0005616	Accelerated skeletal maturation	HP:0040281	ORPHA:300536
1650	DDOST	HP:0031936	Delayed ability to walk	1/1	OMIM:614507
1650	DDOST	HP:0009125	Lipodystrophy	HP:0040283	ORPHA:300536
1650	DDOST	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:300536
1650	DDOST	HP:0000832	Primary hypothyroidism	HP:0040284	ORPHA:300536
1650	DDOST	HP:0003256	Abnormality of the coagulation cascade	HP:0040281	ORPHA:300536
1650	DDOST	HP:0000958	Dry skin	HP:0040283	ORPHA:300536
1650	DDOST	HP:0000938	Osteopenia	1/1	OMIM:614507
1650	DDOST	HP:0000938	Osteopenia	HP:0040281	ORPHA:300536
1650	DDOST	HP:0001508	Failure to thrive	1/1	OMIM:614507
1650	DDOST	HP:0001508	Failure to thrive	HP:0040281	ORPHA:300536
1650	DDOST	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:300536
1650	DDOST	HP:0000486	Strabismus	1/1	OMIM:614507
1650	DDOST	HP:0012450	Chronic constipation	1/1	OMIM:614507
1650	DDOST	HP:0012593	Nephrotic range proteinuria	HP:0040284	ORPHA:300536
1650	DDOST	HP:0000565	Esotropia	HP:0040281	ORPHA:300536
1654	DDX3X	HP:0001156	Brachydactyly	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0009892	Anotia	HP:0040284	ORPHA:3338
1654	DDX3X	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:457260
1654	DDX3X	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:3338
1654	DDX3X	HP:0001273	Abnormal corpus callosum morphology	HP:0040281	ORPHA:3338
1654	DDX3X	HP:0001250	Seizure	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0001250	Seizure	6/38	OMIM:300958
1654	DDX3X	HP:0001250	Seizure	HP:0040283	ORPHA:457260
1654	DDX3X	HP:0001252	Hypotonia	HP:0040282	ORPHA:3338
1654	DDX3X	HP:0001252	Hypotonia	29/38	OMIM:300958
1654	DDX3X	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3338
1654	DDX3X	HP:0001249	Intellectual disability	5/5	OMIM:300958
1654	DDX3X	HP:0001249	Intellectual disability	HP:0040280	ORPHA:457260
1654	DDX3X	HP:0001263	Global developmental delay	HP:0040283	ORPHA:457260
1654	DDX3X	HP:0001257	Spasticity	HP:0040282	ORPHA:457260
1654	DDX3X	HP:0001257	Spasticity	3/5	OMIM:300958
1654	DDX3X	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0002539	Cortical dysplasia	HP:0040283	ORPHA:457260
1654	DDX3X	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:457260
1654	DDX3X	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3338
1654	DDX3X	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0001338	Partial agenesis of the corpus callosum	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0001305	Dandy-Walker malformation	HP:0040284	ORPHA:3338
1654	DDX3X	HP:0002650	Scoliosis	4/38	OMIM:300958
1654	DDX3X	HP:0002650	Scoliosis	HP:0040283	ORPHA:457260
1654	DDX3X	HP:0002643	Neonatal respiratory distress	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0000193	Bifid uvula	1/5	OMIM:300958
1654	DDX3X	HP:0000175	Cleft palate	3/38	OMIM:300958
1654	DDX3X	HP:0000175	Cleft palate	HP:0040282	ORPHA:3338
1654	DDX3X	HP:0000174	Abnormal palate morphology	HP:0040282	ORPHA:3338
1654	DDX3X	HP:0001423	X-linked dominant inheritance	-	OMIM:300958
1654	DDX3X	HP:0001419	X-linked recessive inheritance	-	OMIM:300958
1654	DDX3X	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:457260
1654	DDX3X	HP:0002079	Hypoplasia of the corpus callosum	13/37	OMIM:300958
1654	DDX3X	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:457260
1654	DDX3X	HP:0002119	Ventriculomegaly	13/37	OMIM:300958
1654	DDX3X	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0002136	Broad-based gait	HP:0040282	ORPHA:457260
1654	DDX3X	HP:0002136	Broad-based gait	17/38	OMIM:300958
1654	DDX3X	HP:0003593	Infantile onset	-	OMIM:300958
1654	DDX3X	HP:0002251	Aganglionic megacolon	HP:0040282	ORPHA:3338
1654	DDX3X	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:457260
1654	DDX3X	HP:0100660	Dyskinesia	HP:0040282	ORPHA:457260
1654	DDX3X	HP:0100660	Dyskinesia	HP:0040283	OMIM:300958
1654	DDX3X	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:457260
1654	DDX3X	HP:0004325	Decreased body weight	12/38	OMIM:300958
1654	DDX3X	HP:0004322	Short stature	HP:0040282	ORPHA:3338
1654	DDX3X	HP:0012745	Short palpebral fissure	HP:0040281	ORPHA:3338
1654	DDX3X	HP:0000752	Hyperactivity	HP:0040282	ORPHA:457260
1654	DDX3X	HP:0000752	Hyperactivity	HP:0040283	OMIM:300958
1654	DDX3X	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:457260
1654	DDX3X	HP:0000718	Aggressive behavior	HP:0040283	OMIM:300958
1654	DDX3X	HP:0000729	Autistic behavior	HP:0040282	ORPHA:457260
1654	DDX3X	HP:0000708	Atypical behavior	1/5	OMIM:300958
1654	DDX3X	HP:0000774	Narrow chest	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0003196	Short nose	HP:0040281	ORPHA:3338
1654	DDX3X	HP:0000826	Precocious puberty	5/38	OMIM:300958
1654	DDX3X	HP:0000826	Precocious puberty	HP:0040283	ORPHA:457260
1654	DDX3X	HP:0045075	Sparse eyebrow	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0000293	Full cheeks	HP:0040282	ORPHA:3338
1654	DDX3X	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:3338
1654	DDX3X	HP:0000276	Long face	-	OMIM:300958
1654	DDX3X	HP:0030084	Clinodactyly	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0000252	Microcephaly	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0000252	Microcephaly	2/5	OMIM:300958
1654	DDX3X	HP:0000252	Microcephaly	HP:0040282	ORPHA:457260
1654	DDX3X	HP:0000248	Brachycephaly	3/5	OMIM:300958
1654	DDX3X	HP:0000218	High palate	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0001545	Anteriorly placed anus	HP:0040282	ORPHA:3338
1654	DDX3X	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:457260
1654	DDX3X	HP:0000204	Cleft upper lip	3/38	OMIM:300958
1654	DDX3X	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:3338
1654	DDX3X	HP:0000391	Thickened helices	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0001600	Abnormality of the larynx	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0005164	Dysplastic pulmonary valve	1/5	OMIM:300958
1654	DDX3X	HP:0000365	Hearing impairment	3/38	OMIM:300958
1654	DDX3X	HP:0000365	Hearing impairment	HP:0040283	ORPHA:457260
1654	DDX3X	HP:0000365	Hearing impairment	HP:0040282	ORPHA:3338
1654	DDX3X	HP:0000369	Low-set ears	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:3338
1654	DDX3X	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:3338
1654	DDX3X	HP:0000347	Micrognathia	HP:0040281	ORPHA:3338
1654	DDX3X	HP:0000316	Hypertelorism	-	OMIM:300958
1654	DDX3X	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0001636	Tetralogy of Fallot	HP:0040284	ORPHA:3338
1654	DDX3X	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:3338
1654	DDX3X	HP:0000486	Strabismus	2/5	OMIM:300958
1654	DDX3X	HP:0000463	Anteverted nares	-	OMIM:300958
1654	DDX3X	HP:0000470	Short neck	HP:0040282	ORPHA:3338
1654	DDX3X	HP:0000414	Bulbous nose	-	OMIM:300958
1654	DDX3X	HP:0000431	Wide nasal bridge	-	OMIM:300958
1654	DDX3X	HP:0000506	Telecanthus	HP:0040281	ORPHA:3338
1654	DDX3X	HP:0000505	Visual impairment	HP:0040283	ORPHA:457260
1654	DDX3X	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:457260
1656	DDX6	HP:0001182	Tapered finger	2/4	OMIM:618653
1656	DDX6	HP:0009916	Anisocoria	1/4	OMIM:618653
1656	DDX6	HP:0001195	Single umbilical artery	1/4	OMIM:618653
1656	DDX6	HP:0001288	Gait disturbance	3/4	OMIM:618653
1656	DDX6	HP:0001252	Hypotonia	2/4	OMIM:618653
1656	DDX6	HP:0001249	Intellectual disability	4/4	OMIM:618653
1656	DDX6	HP:0001263	Global developmental delay	4/4	OMIM:618653
1656	DDX6	HP:0002558	Supernumerary nipple	1/4	OMIM:618653
1656	DDX6	HP:0002553	Highly arched eyebrow	2/4	OMIM:618653
1656	DDX6	HP:0031014	Arteria lusoria	1/3	OMIM:618653
1656	DDX6	HP:0000076	Vesicoureteral reflux	1/4	OMIM:618653
1656	DDX6	HP:0000054	Micropenis	1/2	OMIM:618653
1656	DDX6	HP:0000023	Inguinal hernia	-	OMIM:618653
1656	DDX6	HP:0000028	Cryptorchidism	1/2	OMIM:618653
1656	DDX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:618653
1656	DDX6	HP:0002650	Scoliosis	1/4	OMIM:618653
1656	DDX6	HP:0008936	Axial hypotonia	1/4	OMIM:618653
1656	DDX6	HP:0000125	Pelvic kidney	1/4	OMIM:618653
1656	DDX6	HP:0000126	Hydronephrosis	1/4	OMIM:618653
1656	DDX6	HP:0002719	Recurrent infections	1/4	OMIM:618653
1656	DDX6	HP:0004691	2-3 toe syndactyly	1/4	OMIM:618653
1656	DDX6	HP:0002007	Frontal bossing	1/4	OMIM:618653
1656	DDX6	HP:0002079	Hypoplasia of the corpus callosum	2/4	OMIM:618653
1656	DDX6	HP:0002188	Delayed CNS myelination	1/4	OMIM:618653
1656	DDX6	HP:0011968	Feeding difficulties	2/4	OMIM:618653
1656	DDX6	HP:0100694	Tibial torsion	1/4	OMIM:618653
1656	DDX6	HP:0005616	Accelerated skeletal maturation	1/4	OMIM:618653
1656	DDX6	HP:0000733	Motor stereotypy	1/4	OMIM:618653
1656	DDX6	HP:0000750	Delayed speech and language development	4/4	OMIM:618653
1656	DDX6	HP:0004409	Hyposmia	1/4	OMIM:618653
1656	DDX6	HP:0000992	Cutaneous photosensitivity	1/4	OMIM:618653
1656	DDX6	HP:0045025	Narrow palpebral fissure	2/4	OMIM:618653
1656	DDX6	HP:0000286	Epicanthus	3/4	OMIM:618653
1656	DDX6	HP:0000270	Delayed cranial suture closure	1/4	OMIM:618653
1656	DDX6	HP:0000252	Microcephaly	2/4	OMIM:618653
1656	DDX6	HP:0000218	High palate	1/4	OMIM:618653
1656	DDX6	HP:0001545	Anteriorly placed anus	1/4	OMIM:618653
1656	DDX6	HP:0001562	Oligohydramnios	1/4	OMIM:618653
1656	DDX6	HP:0001513	Obesity	2/4	OMIM:618653
1656	DDX6	HP:0000396	Overfolded helix	2/4	OMIM:618653
1656	DDX6	HP:0000369	Low-set ears	2/4	OMIM:618653
1656	DDX6	HP:0000341	Narrow forehead	1/4	OMIM:618653
1656	DDX6	HP:0000319	Smooth philtrum	1/4	OMIM:618653
1656	DDX6	HP:0000316	Hypertelorism	2/4	OMIM:618653
1656	DDX6	HP:0030148	Heart murmur	1/4	OMIM:618653
1656	DDX6	HP:0001655	Patent foramen ovale	2/3	OMIM:618653
1656	DDX6	HP:0000486	Strabismus	3/4	OMIM:618653
1656	DDX6	HP:0001845	Overlapping toe	2/4	OMIM:618653
1656	DDX6	HP:0000540	Hypermetropia	3/4	OMIM:618653
1660	DHX9	HP:0010864	Intellectual disability, severe	4/11	OMIM:620988
1660	DHX9	HP:0001272	Cerebellar atrophy	3/3	OMIM:620988
1660	DHX9	HP:0001256	Intellectual disability, mild	3/11	OMIM:620988
1660	DHX9	HP:0001250	Seizure	6/14	OMIM:620988
1660	DHX9	HP:0001251	Ataxia	2/14	OMIM:620988
1660	DHX9	HP:0001263	Global developmental delay	15/15	OMIM:620988
1660	DHX9	HP:0001347	Hyperreflexia	3/14	OMIM:620988
1660	DHX9	HP:0000006	Autosomal dominant inheritance	-	OMIM:620988
1660	DHX9	HP:0008936	Axial hypotonia	7/14	OMIM:620988
1660	DHX9	HP:0002020	Gastroesophageal reflux	1/1	OMIM:620988
1660	DHX9	HP:0003477	Peripheral axonal neuropathy	1/2	OMIM:620988
1660	DHX9	HP:0002119	Ventriculomegaly	1/3	OMIM:620988
1660	DHX9	HP:0003593	Infantile onset	2/2	OMIM:620988
1660	DHX9	HP:0011968	Feeding difficulties	1/1	OMIM:620988
1660	DHX9	HP:0002342	Intellectual disability, moderate	1/11	OMIM:620988
1660	DHX9	HP:0003623	Neonatal onset	1/1	OMIM:620988
1660	DHX9	HP:0006889	Intellectual disability, borderline	1/11	OMIM:620988
1660	DHX9	HP:0001999	Abnormal facial shape	9/15	OMIM:620988
1660	DHX9	HP:0004322	Short stature	1/1	OMIM:620988
1660	DHX9	HP:0034295	Reduced cerebral white matter volume	1/3	OMIM:620988
1660	DHX9	HP:0012817	Noncompaction cardiomyopathy	1/1	OMIM:620988
1660	DHX9	HP:0045025	Narrow palpebral fissure	1/1	OMIM:620988
1660	DHX9	HP:0000286	Epicanthus	1/1	OMIM:620988
1660	DHX9	HP:0000278	Retrognathia	1/1	OMIM:620988
1660	DHX9	HP:0000252	Microcephaly	7/15	OMIM:620988
1660	DHX9	HP:0000219	Thin upper lip vermilion	1/1	OMIM:620988
1660	DHX9	HP:0001508	Failure to thrive	3/15	OMIM:620988
1660	DHX9	HP:0001518	Small for gestational age	1/1	OMIM:620988
1660	DHX9	HP:0012389	Appendicular hypotonia	2/14	OMIM:620988
1660	DHX9	HP:0000369	Low-set ears	1/1	OMIM:620988
1660	DHX9	HP:0000319	Smooth philtrum	1/1	OMIM:620988
1660	DHX9	HP:0000316	Hypertelorism	1/1	OMIM:620988
1660	DHX9	HP:0000431	Wide nasal bridge	1/1	OMIM:620988
1660	DHX9	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:620988
1663	DDX11	HP:0008586	Hypoplasia of the cochlea	1/1	OMIM:613398
1663	DDX11	HP:0001290	Generalized hypotonia	-	OMIM:613398
1663	DDX11	HP:0001252	Hypotonia	-	OMIM:613398
1663	DDX11	HP:0001249	Intellectual disability	-	OMIM:613398
1663	DDX11	HP:0001263	Global developmental delay	1/1	OMIM:613398
1663	DDX11	HP:0008897	Postnatal growth retardation	1/1	OMIM:613398
1663	DDX11	HP:0000007	Autosomal recessive inheritance	-	OMIM:613398
1663	DDX11	HP:0000154	Wide mouth	1/1	OMIM:613398
1663	DDX11	HP:0004691	2-3 toe syndactyly	1/1	OMIM:613398
1663	DDX11	HP:0003577	Congenital onset	1/1	OMIM:613398
1663	DDX11	HP:0001034	Hypermelanotic macule	1/1	OMIM:613398
1663	DDX11	HP:0004209	Clinodactyly of the 5th finger	1/1	OMIM:613398
1663	DDX11	HP:0000954	Single transverse palmar crease	-	OMIM:613398
1663	DDX11	HP:0000965	Cutis marmorata	1/1	OMIM:613398
1663	DDX11	HP:0000286	Epicanthus	1/1	OMIM:613398
1663	DDX11	HP:0000274	Small face	1/1	OMIM:613398
1663	DDX11	HP:0000252	Microcephaly	1/1	OMIM:613398
1663	DDX11	HP:0000218	High palate	1/1	OMIM:613398
1663	DDX11	HP:0001511	Intrauterine growth retardation	1/1	OMIM:613398
1663	DDX11	HP:0000378	Cupped ear	1/1	OMIM:613398
1663	DDX11	HP:0000365	Hearing impairment	-	OMIM:613398
1663	DDX11	HP:0000341	Narrow forehead	1/1	OMIM:613398
1663	DDX11	HP:0000340	Sloping forehead	1/1	OMIM:613398
1663	DDX11	HP:0001629	Ventricular septal defect	1/1	OMIM:613398
1663	DDX11	HP:0001636	Tetralogy of Fallot	HP:0040283	OMIM:613398
1663	DDX11	HP:0000588	Optic disc coloboma	1/1	OMIM:613398
1674	DES	HP:0002460	Distal muscle weakness	-	OMIM:601419
1674	DES	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
1674	DES	HP:0020203	Z-band streaming	1/3	OMIM:181400
1674	DES	HP:0003724	Shoulder girdle muscle atrophy	13/15	OMIM:181400
1674	DES	HP:0003722	Neck flexor weakness	HP:0040283	ORPHA:98909
1674	DES	HP:0003704	Scapuloperoneal weakness	13/15	OMIM:181400
1674	DES	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98909
1674	DES	HP:0001283	Bulbar palsy	-	OMIM:601419
1674	DES	HP:0002522	Areflexia of lower limbs	HP:0040283	ORPHA:98909
1674	DES	HP:0002505	Loss of ambulation	HP:0040282	ORPHA:98909
1674	DES	HP:0003805	Rimmed vacuoles	6/8	OMIM:181400
1674	DES	HP:0000007	Autosomal recessive inheritance	-	OMIM:601419
1674	DES	HP:0000006	Autosomal dominant inheritance	-	OMIM:601419
1674	DES	HP:0000006	Autosomal dominant inheritance	-	OMIM:181400
1674	DES	HP:0000006	Autosomal dominant inheritance	-	OMIM:604765
1674	DES	HP:0002600	Hyporeflexia of lower limbs	-	OMIM:601419
1674	DES	HP:0002747	Respiratory insufficiency due to muscle weakness	1/7	OMIM:601419
1674	DES	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:98909
1674	DES	HP:0002019	Constipation	-	OMIM:601419
1674	DES	HP:0003327	Axial muscle weakness	HP:0040281	ORPHA:98909
1674	DES	HP:0002014	Diarrhea	-	OMIM:601419
1674	DES	HP:0002015	Dysphagia	2/15	OMIM:181400
1674	DES	HP:0003306	Spinal rigidity	HP:0040284	ORPHA:98909
1674	DES	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:98909
1674	DES	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
1674	DES	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
1674	DES	HP:0003458	EMG: myopathic abnormalities	-	OMIM:601419
1674	DES	HP:0003596	Middle age onset	5/13	OMIM:181400
1674	DES	HP:0003581	Adult onset	2/2	OMIM:604765
1674	DES	HP:0003581	Adult onset	6/7	OMIM:601419
1674	DES	HP:0010628	Facial palsy	-	OMIM:601419
1674	DES	HP:0003694	Late-onset proximal muscle weakness	-	OMIM:601419
1674	DES	HP:0009053	Distal lower limb muscle weakness	HP:0040281	ORPHA:98909
1674	DES	HP:0009049	Peroneal muscle atrophy	-	OMIM:181400
1674	DES	HP:0012664	Reduced left ventricular ejection fraction	2/4	OMIM:604765
1674	DES	HP:0009027	Foot dorsiflexor weakness	2/15	OMIM:181400
1674	DES	HP:0005659	Thoracic kyphoscoliosis	HP:0040283	ORPHA:98909
1674	DES	HP:0000771	Gynecomastia	3/9	OMIM:181400
1674	DES	HP:0011462	Young adult onset	8/13	OMIM:181400
1674	DES	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
1674	DES	HP:0003198	Myopathy	HP:0040283	ORPHA:154
1674	DES	HP:0003236	Elevated circulating creatine kinase concentration	0/4	OMIM:604765
1674	DES	HP:0000969	Edema	HP:0040282	ORPHA:154
1674	DES	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
1674	DES	HP:0005115	Supraventricular arrhythmia	HP:0040282	ORPHA:98909
1674	DES	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
1674	DES	HP:0012378	Fatigue	HP:0040282	ORPHA:154
1674	DES	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:98909
1674	DES	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040283	ORPHA:98909
1674	DES	HP:0005157	Concentric hypertrophic cardiomyopathy	HP:0040282	ORPHA:98909
1674	DES	HP:0001678	Atrioventricular block	HP:0040282	ORPHA:98909
1674	DES	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:98909
1674	DES	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
1674	DES	HP:0001644	Dilated cardiomyopathy	2/4	OMIM:604765
1674	DES	HP:0001644	Dilated cardiomyopathy	1/7	OMIM:601419
1674	DES	HP:0001662	Bradycardia	1/7	OMIM:601419
1674	DES	HP:0001640	Cardiomegaly	2/4	OMIM:604765
1674	DES	HP:0001639	Hypertrophic cardiomyopathy	2/7	OMIM:601419
1674	DES	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
1674	DES	HP:0001635	Congestive heart failure	2/4	OMIM:604765
1674	DES	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:98909
1674	DES	HP:0030319	Weakness of facial musculature	HP:0040283	ORPHA:98909
1674	DES	HP:0030319	Weakness of facial musculature	2/15	OMIM:181400
1674	DES	HP:0006673	Reduced systolic function	2/4	OMIM:604765
1674	DES	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
1674	DES	HP:0001723	Restrictive cardiomyopathy	1/7	OMIM:601419
1674	DES	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
1674	DES	HP:0001709	Third degree atrioventricular block	2/7	OMIM:601419
1674	DES	HP:0000467	Neck muscle weakness	-	OMIM:601419
1674	DES	HP:0001762	Talipes equinovarus	-	OMIM:181400
1675	CFD	HP:0000007	Autosomal recessive inheritance	-	OMIM:613912
1675	CFD	HP:0002718	Recurrent bacterial infections	1/1	OMIM:613912
1675	CFD	HP:0008338	Partial functional complement factor D deficiency	1/1	OMIM:613912
1678	TIMM8A	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
1678	TIMM8A	HP:0001133	Constriction of peripheral visual field	-	OMIM:304700
1678	TIMM8A	HP:0007325	Generalized dystonia	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0008596	Postlingual sensorineural hearing impairment	11/11	OMIM:304700
1678	TIMM8A	HP:0008596	Postlingual sensorineural hearing impairment	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0001268	Mental deterioration	-	OMIM:304700
1678	TIMM8A	HP:0001268	Mental deterioration	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0001256	Intellectual disability, mild	1/1	OMIM:304700
1678	TIMM8A	HP:0001260	Dysarthria	-	OMIM:304700
1678	TIMM8A	HP:0001257	Spasticity	-	OMIM:304700
1678	TIMM8A	HP:0007377	Abnormality of somatosensory evoked potentials	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0002540	Inability to walk	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0002533	Abnormal posturing	1/1	OMIM:304700
1678	TIMM8A	HP:0012048	Oromandibular dystonia	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0001347	Hyperreflexia	1/1	OMIM:304700
1678	TIMM8A	HP:0001332	Dystonia	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0001332	Dystonia	1/1	OMIM:304700
1678	TIMM8A	HP:0002659	Increased susceptibility to fractures	-	OMIM:304700
1678	TIMM8A	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
1678	TIMM8A	HP:0001337	Tremor	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0001337	Tremor	-	OMIM:304700
1678	TIMM8A	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
1678	TIMM8A	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
1678	TIMM8A	HP:0007663	Reduced visual acuity	-	OMIM:304700
1678	TIMM8A	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
1678	TIMM8A	HP:0008954	Intrinsic hand muscle atrophy	1/1	OMIM:304700
1678	TIMM8A	HP:0001419	X-linked recessive inheritance	-	OMIM:304700
1678	TIMM8A	HP:0002015	Dysphagia	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0002015	Dysphagia	-	OMIM:304700
1678	TIMM8A	HP:0003487	Babinski sign	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0002186	Apraxia	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0002172	Postural instability	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0100704	Cerebral visual impairment	-	OMIM:304700
1678	TIMM8A	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0002283	Global brain atrophy	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0011999	Paranoia	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0007018	Attention deficit hyperactivity disorder	HP:0040284	ORPHA:52368
1678	TIMM8A	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0002362	Shuffling gait	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0002340	Caudate atrophy	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0003621	Juvenile onset	8/19	OMIM:180100
1678	TIMM8A	HP:0006801	Hyperactive deep tendon reflexes	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0000649	Abnormality of visual evoked potentials	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0000648	Optic atrophy	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0000613	Photophobia	-	OMIM:304700
1678	TIMM8A	HP:0000613	Photophobia	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0000603	Central scotoma	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0000662	Nyctalopia	26/28	OMIM:180100
1678	TIMM8A	HP:0004373	Focal dystonia	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0000751	Personality changes	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0000726	Dementia	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0000708	Atypical behavior	-	OMIM:304700
1678	TIMM8A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0011463	Childhood onset	3/19	OMIM:180100
1678	TIMM8A	HP:0011463	Childhood onset	1/1	OMIM:304700
1678	TIMM8A	HP:0011462	Young adult onset	8/19	OMIM:180100
1678	TIMM8A	HP:0011448	Ankle clonus	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0004432	Agammaglobulinemia	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0004463	Absent brainstem auditory responses	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
1678	TIMM8A	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
1678	TIMM8A	HP:0000399	Prelingual sensorineural hearing impairment	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0000375	Abnormal cochlea morphology	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:304700
1678	TIMM8A	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0001751	Abnormal vestibular function	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
1678	TIMM8A	HP:0000512	Abnormal electroretinogram	-	OMIM:304700
1678	TIMM8A	HP:0000505	Visual impairment	HP:0040282	ORPHA:52368
1678	TIMM8A	HP:0000505	Visual impairment	-	OMIM:304700
1678	TIMM8A	HP:0000575	Scotoma	5/18	OMIM:180100
1678	TIMM8A	HP:0000572	Visual loss	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0000551	Color vision defect	HP:0040283	ORPHA:52368
1678	TIMM8A	HP:0000543	Optic disc pallor	1/1	OMIM:180100
1678	TIMM8A	HP:0000545	Myopia	-	OMIM:180100
1678	TIMM8A	HP:0000545	Myopia	-	OMIM:304700
1687	GSDME	HP:0000006	Autosomal dominant inheritance	-	OMIM:600994
1687	GSDME	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:600994
1690	COCH	HP:0008596	Postlingual sensorineural hearing impairment	-	OMIM:601369
1690	COCH	HP:0000007	Autosomal recessive inheritance	-	OMIM:618094
1690	COCH	HP:0000006	Autosomal dominant inheritance	-	OMIM:601369
1690	COCH	HP:0009591	Abnormal vestibulocochlear nerve morphology	-	OMIM:601369
1690	COCH	HP:0003577	Congenital onset	2/2	OMIM:618094
1690	COCH	HP:0003676	Progressive	-	OMIM:601369
1690	COCH	HP:0002321	Vertigo	-	OMIM:601369
1690	COCH	HP:0011462	Young adult onset	-	OMIM:601369
1690	COCH	HP:0005102	Cochlear degeneration	-	OMIM:601369
1690	COCH	HP:0000360	Tinnitus	-	OMIM:601369
1690	COCH	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:618094
1690	COCH	HP:0001751	Abnormal vestibular function	1/2	OMIM:618094
1716	DGUOK	HP:0003797	Limb-girdle muscle atrophy	HP:0040282	ORPHA:329314
1716	DGUOK	HP:0002460	Distal muscle weakness	-	OMIM:617070
1716	DGUOK	HP:0008615	Adult onset sensorineural hearing impairment	HP:0040282	ORPHA:329314
1716	DGUOK	HP:0003749	Pelvic girdle muscle weakness	HP:0040283	ORPHA:329314
1716	DGUOK	HP:0003701	Proximal muscle weakness	-	OMIM:617070
1716	DGUOK	HP:0001298	Encephalopathy	-	OMIM:251880
1716	DGUOK	HP:0001271	Polyneuropathy	-	OMIM:251880
1716	DGUOK	HP:0001250	Seizure	-	OMIM:251880
1716	DGUOK	HP:0001252	Hypotonia	-	OMIM:251880
1716	DGUOK	HP:0001251	Ataxia	HP:0040283	ORPHA:329314
1716	DGUOK	HP:0001265	Hyporeflexia	2/6	OMIM:617070
1716	DGUOK	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:329314
1716	DGUOK	HP:0001397	Hepatic steatosis	-	OMIM:251880
1716	DGUOK	HP:0001399	Hepatic failure	19/19	OMIM:251880
1716	DGUOK	HP:0001347	Hyperreflexia	-	OMIM:251880
1716	DGUOK	HP:0008872	Feeding difficulties in infancy	-	OMIM:251880
1716	DGUOK	HP:0000007	Autosomal recessive inheritance	-	OMIM:617068
1716	DGUOK	HP:0000007	Autosomal recessive inheritance	-	OMIM:617070
1716	DGUOK	HP:0000007	Autosomal recessive inheritance	-	OMIM:251880
1716	DGUOK	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:329314
1716	DGUOK	HP:0006254	Elevated circulating alpha-fetoprotein concentration	19/19	OMIM:251880
1716	DGUOK	HP:0025406	Asthenia	HP:0040283	ORPHA:329314
1716	DGUOK	HP:0001409	Portal hypertension	8/8	OMIM:617068
1716	DGUOK	HP:0001409	Portal hypertension	-	OMIM:251880
1716	DGUOK	HP:0001405	Periportal fibrosis	-	OMIM:251880
1716	DGUOK	HP:0001404	Hepatocellular necrosis	-	OMIM:251880
1716	DGUOK	HP:0001413	Micronodular cirrhosis	-	OMIM:251880
1716	DGUOK	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:329314
1716	DGUOK	HP:0003326	Myalgia	HP:0040283	ORPHA:329314
1716	DGUOK	HP:0002015	Dysphagia	3/6	OMIM:617070
1716	DGUOK	HP:0002015	Dysphagia	HP:0040282	ORPHA:329314
1716	DGUOK	HP:0002013	Vomiting	-	OMIM:251880
1716	DGUOK	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:329314
1716	DGUOK	HP:0003394	Muscle spasm	HP:0040283	ORPHA:329314
1716	DGUOK	HP:0003390	Sensory axonal neuropathy	HP:0040282	ORPHA:329314
1716	DGUOK	HP:0002045	Hypothermia	-	OMIM:251880
1716	DGUOK	HP:0002040	Esophageal varix	7/8	OMIM:617068
1716	DGUOK	HP:0002059	Cerebral atrophy	-	OMIM:251880
1716	DGUOK	HP:0003477	Peripheral axonal neuropathy	-	OMIM:617070
1716	DGUOK	HP:0002151	Increased circulating lactate concentration	1/6	OMIM:617070
1716	DGUOK	HP:0002120	Cerebral cortical atrophy	1/2	OMIM:617070
1716	DGUOK	HP:0011924	Decreased activity of mitochondrial complex III	-	OMIM:251880
1716	DGUOK	HP:0011923	Decreased activity of mitochondrial complex I	-	OMIM:251880
1716	DGUOK	HP:0003596	Middle age onset	4/6	OMIM:617070
1716	DGUOK	HP:0003593	Infantile onset	-	OMIM:251880
1716	DGUOK	HP:0002240	Hepatomegaly	-	OMIM:251880
1716	DGUOK	HP:0002240	Hepatomegaly	1/8	OMIM:617068
1716	DGUOK	HP:0003584	Late onset	1/6	OMIM:617070
1716	DGUOK	HP:0003558	Viral infection-induced rhabdomyolysis	HP:0040283	ORPHA:329314
1716	DGUOK	HP:0008347	Decreased activity of mitochondrial complex IV	-	OMIM:251880
1716	DGUOK	HP:0003688	Cytochrome C oxidase-negative muscle fibers	6/6	OMIM:617070
1716	DGUOK	HP:0003689	Multiple mitochondrial DNA deletions	6/6	OMIM:617070
1716	DGUOK	HP:0003623	Neonatal onset	-	OMIM:251880
1716	DGUOK	HP:0000639	Nystagmus	-	OMIM:251880
1716	DGUOK	HP:0000648	Optic atrophy	HP:0040283	ORPHA:329314
1716	DGUOK	HP:0001943	Hypoglycemia	-	OMIM:251880
1716	DGUOK	HP:0003073	Hypoalbuminemia	-	OMIM:251880
1716	DGUOK	HP:0000716	Depression	HP:0040283	ORPHA:329314
1716	DGUOK	HP:0000726	Dementia	HP:0040283	ORPHA:329314
1716	DGUOK	HP:0000726	Dementia	1/6	OMIM:617070
1716	DGUOK	HP:0011462	Young adult onset	1/6	OMIM:617070
1716	DGUOK	HP:0003128	Lactic acidosis	19/19	OMIM:251880
1716	DGUOK	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:617070
1716	DGUOK	HP:0003202	Skeletal muscle atrophy	-	OMIM:617070
1716	DGUOK	HP:0003200	Ragged-red muscle fibers	5/6	OMIM:617070
1716	DGUOK	HP:0003201	Rhabdomyolysis	1/6	OMIM:617070
1716	DGUOK	HP:0000952	Jaundice	-	OMIM:251880
1716	DGUOK	HP:0000252	Microcephaly	-	OMIM:251880
1716	DGUOK	HP:0001541	Ascites	-	OMIM:251880
1716	DGUOK	HP:0001508	Failure to thrive	19/19	OMIM:251880
1716	DGUOK	HP:0001510	Growth delay	-	OMIM:251880
1716	DGUOK	HP:0006581	Depletion of mitochondrial DNA in liver	5/5	OMIM:251880
1716	DGUOK	HP:0001618	Dysphonia	2/6	OMIM:617070
1716	DGUOK	HP:0001618	Dysphonia	HP:0040283	ORPHA:329314
1716	DGUOK	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:251880
1716	DGUOK	HP:0002910	Elevated circulating hepatic transaminase concentration	1/8	OMIM:617068
1716	DGUOK	HP:0002909	Generalized aminoaciduria	-	OMIM:251880
1716	DGUOK	HP:0002904	Hyperbilirubinemia	-	OMIM:251880
1716	DGUOK	HP:0000407	Sensorineural hearing impairment	1/6	OMIM:617070
1716	DGUOK	HP:0000486	Strabismus	HP:0040283	ORPHA:329314
1716	DGUOK	HP:0001744	Splenomegaly	-	OMIM:251880
1716	DGUOK	HP:0001744	Splenomegaly	8/8	OMIM:617068
1716	DGUOK	HP:0000518	Cataract	HP:0040283	ORPHA:329314
1716	DGUOK	HP:0000508	Ptosis	2/6	OMIM:617070
1716	DGUOK	HP:0000590	Progressive external ophthalmoplegia	-	OMIM:617070
1716	DGUOK	HP:0000590	Progressive external ophthalmoplegia	HP:0040282	ORPHA:329314
1716	DGUOK	HP:0000549	Abnormal conjugate eye movement	-	OMIM:251880
1716	DGUOK	HP:0001873	Thrombocytopenia	-	OMIM:251880
1717	DHCR7	HP:0001171	Split hand	HP:0040283	ORPHA:818
1717	DHCR7	HP:0001156	Brachydactyly	HP:0040283	ORPHA:818
1717	DHCR7	HP:0001153	Septate vagina	-	OMIM:270400
1717	DHCR7	HP:0001162	Postaxial hand polydactyly	HP:0040282	ORPHA:818
1717	DHCR7	HP:0001162	Postaxial hand polydactyly	11/11	OMIM:270400
1717	DHCR7	HP:0010880	Increased nuchal translucency	HP:0040281	ORPHA:818
1717	DHCR7	HP:0001290	Generalized hypotonia	-	OMIM:270400
1717	DHCR7	HP:0001276	Hypertonia	HP:0040283	ORPHA:818
1717	DHCR7	HP:0001276	Hypertonia	-	OMIM:270400
1717	DHCR7	HP:0001272	Cerebellar atrophy	2/55	OMIM:270400
1717	DHCR7	HP:0001250	Seizure	HP:0040283	ORPHA:818
1717	DHCR7	HP:0001250	Seizure	-	OMIM:270400
1717	DHCR7	HP:0001252	Hypotonia	HP:0040281	ORPHA:818
1717	DHCR7	HP:0001252	Hypotonia	1/1	OMIM:270400
1717	DHCR7	HP:0002579	Gastrointestinal dysmotility	-	OMIM:270400
1717	DHCR7	HP:0001249	Intellectual disability	HP:0040281	ORPHA:818
1717	DHCR7	HP:0001249	Intellectual disability	1/3	OMIM:270400
1717	DHCR7	HP:0001263	Global developmental delay	HP:0040281	ORPHA:818
1717	DHCR7	HP:0001263	Global developmental delay	3/4	OMIM:270400
1717	DHCR7	HP:0001262	Excessive daytime somnolence	HP:0040282	ORPHA:818
1717	DHCR7	HP:0002566	Intestinal malrotation	-	OMIM:270400
1717	DHCR7	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:818
1717	DHCR7	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:818
1717	DHCR7	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:818
1717	DHCR7	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:818
1717	DHCR7	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:818
1717	DHCR7	HP:0007333	Hypoplasia of the frontal lobes	-	OMIM:270400
1717	DHCR7	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:818
1717	DHCR7	HP:0002506	Diffuse cerebral atrophy	2/55	OMIM:270400
1717	DHCR7	HP:0000089	Renal hypoplasia	-	OMIM:270400
1717	DHCR7	HP:0000081	Duplicated collecting system	1/3	OMIM:270400
1717	DHCR7	HP:0001397	Hepatic steatosis	1/1	OMIM:270400
1717	DHCR7	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:818
1717	DHCR7	HP:0000062	Ambiguous genitalia	2/5	OMIM:270400
1717	DHCR7	HP:0001394	Cirrhosis	1/1	OMIM:270400
1717	DHCR7	HP:0000074	Ureteropelvic junction obstruction	-	OMIM:270400
1717	DHCR7	HP:0000074	Ureteropelvic junction obstruction	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000046	Small scrotum	-	OMIM:270400
1717	DHCR7	HP:0000054	Micropenis	-	OMIM:270400
1717	DHCR7	HP:0000048	Bifid scrotum	-	OMIM:270400
1717	DHCR7	HP:0000047	Hypospadias	HP:0040282	ORPHA:818
1717	DHCR7	HP:0000047	Hypospadias	-	OMIM:270400
1717	DHCR7	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:818
1717	DHCR7	HP:0001360	Holoprosencephaly	-	OMIM:270400
1717	DHCR7	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:818
1717	DHCR7	HP:0000028	Cryptorchidism	-	OMIM:270400
1717	DHCR7	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:818
1717	DHCR7	HP:0007537	Severe photosensitivity	-	OMIM:270400
1717	DHCR7	HP:0007477	Abnormal dermatoglyphics	HP:0040281	ORPHA:818
1717	DHCR7	HP:0001338	Partial agenesis of the corpus callosum	1/1	OMIM:270400
1717	DHCR7	HP:0000007	Autosomal recessive inheritance	-	OMIM:270400
1717	DHCR7	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:818
1717	DHCR7	HP:0001305	Dandy-Walker malformation	11/55	OMIM:270400
1717	DHCR7	HP:0002650	Scoliosis	HP:0040283	ORPHA:818
1717	DHCR7	HP:0002611	Cholestatic liver disease	-	OMIM:270400
1717	DHCR7	HP:0000187	Broad alveolar ridges	-	OMIM:270400
1717	DHCR7	HP:0008905	Rhizomelia	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000193	Bifid uvula	1/3	OMIM:270400
1717	DHCR7	HP:0000175	Cleft palate	HP:0040282	ORPHA:818
1717	DHCR7	HP:0000175	Cleft palate	3/5	OMIM:270400
1717	DHCR7	HP:0000171	Microglossia	-	OMIM:270400
1717	DHCR7	HP:0000171	Microglossia	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000154	Wide mouth	HP:0040282	ORPHA:818
1717	DHCR7	HP:0006288	Advanced eruption of teeth	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000122	Unilateral renal agenesis	-	OMIM:270400
1717	DHCR7	HP:0002777	Tracheal stenosis	HP:0040282	ORPHA:818
1717	DHCR7	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000126	Hydronephrosis	-	OMIM:270400
1717	DHCR7	HP:0000107	Renal cyst	-	OMIM:270400
1717	DHCR7	HP:0000104	Renal agenesis	-	OMIM:270400
1717	DHCR7	HP:0002719	Recurrent infections	HP:0040282	ORPHA:818
1717	DHCR7	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:818
1717	DHCR7	HP:0002021	Pyloric stenosis	11/11	OMIM:270400
1717	DHCR7	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:818
1717	DHCR7	HP:0002020	Gastroesophageal reflux	-	OMIM:270400
1717	DHCR7	HP:0002019	Constipation	-	OMIM:270400
1717	DHCR7	HP:0002033	Poor suck	-	OMIM:270400
1717	DHCR7	HP:0004691	2-3 toe syndactyly	HP:0040281	ORPHA:818
1717	DHCR7	HP:0004691	2-3 toe syndactyly	3/3	OMIM:270400
1717	DHCR7	HP:0002013	Vomiting	-	OMIM:270400
1717	DHCR7	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:818
1717	DHCR7	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:818
1717	DHCR7	HP:0002089	Pulmonary hypoplasia	HP:0040282	ORPHA:818
1717	DHCR7	HP:0002089	Pulmonary hypoplasia	-	OMIM:270400
1717	DHCR7	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:270400
1717	DHCR7	HP:0009465	Ulnar deviation of finger	HP:0040283	ORPHA:818
1717	DHCR7	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:818
1717	DHCR7	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:818
1717	DHCR7	HP:0002101	Abnormal lung lobation	-	OMIM:270400
1717	DHCR7	HP:0002101	Abnormal lung lobation	HP:0040282	ORPHA:818
1717	DHCR7	HP:0009623	Proximal placement of thumb	HP:0040282	ORPHA:818
1717	DHCR7	HP:0009623	Proximal placement of thumb	-	OMIM:270400
1717	DHCR7	HP:0010569	Elevated circulating 7-dehydrocholesterol concentration	4/4	OMIM:270400
1717	DHCR7	HP:0010569	Elevated circulating 7-dehydrocholesterol concentration	HP:0040281	ORPHA:818
1717	DHCR7	HP:0003577	Congenital onset	6/6	OMIM:270400
1717	DHCR7	HP:0002240	Hepatomegaly	1/1	OMIM:270400
1717	DHCR7	HP:0100702	Arachnoid cyst	17/55	OMIM:270400
1717	DHCR7	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:818
1717	DHCR7	HP:0002251	Aganglionic megacolon	-	OMIM:270400
1717	DHCR7	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:818
1717	DHCR7	HP:0002283	Global brain atrophy	5/55	OMIM:270400
1717	DHCR7	HP:0010655	Epiphyseal stippling	-	OMIM:270400
1717	DHCR7	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:818
1717	DHCR7	HP:0011968	Feeding difficulties	1/1	OMIM:270400
1717	DHCR7	HP:0007099	Chiari type I malformation	2/55	OMIM:270400
1717	DHCR7	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:818
1717	DHCR7	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:818
1717	DHCR7	HP:0007165	Periventricular heterotopia	-	OMIM:270400
1717	DHCR7	HP:0009778	Short thumb	-	OMIM:270400
1717	DHCR7	HP:0005599	Hypopigmentation of hair	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000639	Nystagmus	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000639	Nystagmus	-	OMIM:270400
1717	DHCR7	HP:0000648	Optic atrophy	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000647	Sclerocornea	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000612	Iris coloboma	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000678	Dental crowding	-	OMIM:270400
1717	DHCR7	HP:0004322	Short stature	HP:0040281	ORPHA:818
1717	DHCR7	HP:0004322	Short stature	-	OMIM:270400
1717	DHCR7	HP:0006979	Sleep-wake cycle disturbance	-	OMIM:270400
1717	DHCR7	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:818
1717	DHCR7	HP:0003073	Hypoalbuminemia	1/1	OMIM:270400
1717	DHCR7	HP:0000808	Penoscrotal hypospadias	1/1	OMIM:270400
1717	DHCR7	HP:0003027	Mesomelia	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000752	Hyperactivity	-	OMIM:270400
1717	DHCR7	HP:0000772	Abnormal rib morphology	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000742	Self-mutilation	-	OMIM:270400
1717	DHCR7	HP:0000718	Aggressive behavior	-	OMIM:270400
1717	DHCR7	HP:0000717	Autism	HP:0040282	ORPHA:818
1717	DHCR7	HP:0000717	Autism	-	OMIM:270400
1717	DHCR7	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:818
1717	DHCR7	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:818
1717	DHCR7	HP:0005709	2-3 toe cutaneous syndactyly	2/2	OMIM:270400
1717	DHCR7	HP:0003146	Hypocholesterolemia	3/5	OMIM:270400
1717	DHCR7	HP:0000813	Bicornuate uterus	-	OMIM:270400
1717	DHCR7	HP:0000826	Precocious puberty	-	OMIM:270400
1717	DHCR7	HP:0000822	Hypertension	1/1	OMIM:270400
1717	DHCR7	HP:0010297	Bifid tongue	HP:0040283	ORPHA:818
1717	DHCR7	HP:0003270	Abdominal distention	1/1	OMIM:270400
1717	DHCR7	HP:0000996	Facial capillary hemangioma	-	OMIM:270400
1717	DHCR7	HP:0000996	Facial capillary hemangioma	HP:0040282	ORPHA:818
1717	DHCR7	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:818
1717	DHCR7	HP:0000965	Cutis marmorata	HP:0040282	ORPHA:818
1717	DHCR7	HP:0000964	Eczematoid dermatitis	-	OMIM:270400
1717	DHCR7	HP:0000960	Sacral dimple	1/1	OMIM:270400
1717	DHCR7	HP:0008056	Aplasia/Hypoplasia affecting the eye	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000286	Epicanthus	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000286	Epicanthus	1/1	OMIM:270400
1717	DHCR7	HP:0002827	Hip dislocation	HP:0040282	ORPHA:818
1717	DHCR7	HP:0002827	Hip dislocation	-	OMIM:270400
1717	DHCR7	HP:0002808	Kyphosis	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000238	Hydrocephalus	-	OMIM:270400
1717	DHCR7	HP:0000252	Microcephaly	HP:0040281	ORPHA:818
1717	DHCR7	HP:0000252	Microcephaly	11/11	OMIM:270400
1717	DHCR7	HP:0001543	Gastroschisis	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:818
1717	DHCR7	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:818
1717	DHCR7	HP:0001558	Decreased fetal movement	-	OMIM:270400
1717	DHCR7	HP:0001522	Death in infancy	1/1	OMIM:270400
1717	DHCR7	HP:0001508	Failure to thrive	-	OMIM:270400
1717	DHCR7	HP:0030043	Hip subluxation	-	OMIM:270400
1717	DHCR7	HP:0030048	Colpocephaly	35/55	OMIM:270400
1717	DHCR7	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:818
1717	DHCR7	HP:0001511	Intrauterine growth retardation	3/4	OMIM:270400
1717	DHCR7	HP:0001510	Growth delay	HP:0040281	ORPHA:818
1717	DHCR7	HP:0001510	Growth delay	3/4	OMIM:270400
1717	DHCR7	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040283	ORPHA:818
1717	DHCR7	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:818
1717	DHCR7	HP:0005264	Abnormality of the gallbladder	HP:0040283	ORPHA:818
1717	DHCR7	HP:0001600	Abnormality of the larynx	HP:0040282	ORPHA:818
1717	DHCR7	HP:0006482	Abnormal dental morphology	HP:0040281	ORPHA:818
1717	DHCR7	HP:0000365	Hearing impairment	-	OMIM:270400
1717	DHCR7	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:818
1717	DHCR7	HP:0000358	Posteriorly rotated ears	11/11	OMIM:270400
1717	DHCR7	HP:0000369	Low-set ears	2/2	OMIM:270400
1717	DHCR7	HP:0000341	Narrow forehead	-	OMIM:270400
1717	DHCR7	HP:0000343	Long philtrum	HP:0040282	ORPHA:818
1717	DHCR7	HP:0000343	Long philtrum	-	OMIM:270400
1717	DHCR7	HP:0001680	Coarctation of aorta	-	OMIM:270400
1717	DHCR7	HP:0000347	Micrognathia	HP:0040281	ORPHA:818
1717	DHCR7	HP:0000347	Micrognathia	-	OMIM:270400
1717	DHCR7	HP:0002983	Micromelia	-	OMIM:270400
1717	DHCR7	HP:0000316	Hypertelorism	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000316	Hypertelorism	1/1	OMIM:270400
1717	DHCR7	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:818
1717	DHCR7	HP:0001643	Patent ductus arteriosus	-	OMIM:270400
1717	DHCR7	HP:0001663	Ventricular fibrillation	1/1	OMIM:270400
1717	DHCR7	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:818
1717	DHCR7	HP:0001629	Ventricular septal defect	-	OMIM:270400
1717	DHCR7	HP:0001623	Breech presentation	-	OMIM:270400
1717	DHCR7	HP:0001622	Premature birth	-	OMIM:270400
1717	DHCR7	HP:0000308	Microretrognathia	1/1	OMIM:270400
1717	DHCR7	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:270400
1717	DHCR7	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:818
1717	DHCR7	HP:0001631	Atrial septal defect	1/1	OMIM:270400
1717	DHCR7	HP:0006610	Wide intermamillary distance	HP:0040282	ORPHA:818
1717	DHCR7	HP:0000499	Abnormal eyelash morphology	HP:0040283	ORPHA:818
1717	DHCR7	HP:0006695	Atrioventricular canal defect	HP:0040282	ORPHA:818
1717	DHCR7	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000403	Recurrent otitis media	-	OMIM:270400
1717	DHCR7	HP:0005280	Depressed nasal bridge	1/1	OMIM:270400
1717	DHCR7	HP:0000486	Strabismus	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000486	Strabismus	-	OMIM:270400
1717	DHCR7	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000463	Anteverted nares	HP:0040281	ORPHA:818
1717	DHCR7	HP:0000463	Anteverted nares	11/11	OMIM:270400
1717	DHCR7	HP:0000470	Short neck	HP:0040282	ORPHA:818
1717	DHCR7	HP:0001765	Hammertoe	-	OMIM:270400
1717	DHCR7	HP:0000453	Choanal atresia	HP:0040283	ORPHA:818
1717	DHCR7	HP:0001744	Splenomegaly	1/1	OMIM:270400
1717	DHCR7	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:818
1717	DHCR7	HP:0000431	Wide nasal bridge	-	OMIM:270400
1717	DHCR7	HP:0000518	Cataract	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000518	Cataract	-	OMIM:270400
1717	DHCR7	HP:0001845	Overlapping toe	-	OMIM:270400
1717	DHCR7	HP:0001840	Metatarsus adductus	-	OMIM:270400
1717	DHCR7	HP:0000520	Proptosis	HP:0040283	ORPHA:818
1717	DHCR7	HP:0000508	Ptosis	HP:0040282	ORPHA:818
1717	DHCR7	HP:0000508	Ptosis	11/11	OMIM:270400
1717	DHCR7	HP:0001830	Postaxial foot polydactyly	HP:0040282	ORPHA:818
1717	DHCR7	HP:0001830	Postaxial foot polydactyly	-	OMIM:270400
1717	DHCR7	HP:0000501	Glaucoma	HP:0040283	ORPHA:818
1717	DHCR7	HP:0001831	Short toe	-	OMIM:270400
1717	DHCR7	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:818
1717	DHCR7	HP:0001884	Talipes calcaneovalgus	-	OMIM:270400
1717	DHCR7	HP:0001884	Talipes calcaneovalgus	HP:0040283	ORPHA:818
1718	DHCR24	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1718	DHCR24	HP:0001293	Cranial nerve compression	-	OMIM:131300
1718	DHCR24	HP:0001276	Hypertonia	HP:0040281	ORPHA:35107
1718	DHCR24	HP:0001274	Agenesis of corpus callosum	10/10	OMIM:602398
1718	DHCR24	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:35107
1718	DHCR24	HP:0001250	Seizure	5/8	OMIM:602398
1718	DHCR24	HP:0001250	Seizure	HP:0040282	ORPHA:35107
1718	DHCR24	HP:0001252	Hypotonia	2/7	OMIM:615777
1718	DHCR24	HP:0001249	Intellectual disability	HP:0040281	ORPHA:35107
1718	DHCR24	HP:0001249	Intellectual disability	5/7	OMIM:615777
1718	DHCR24	HP:0001263	Global developmental delay	9/9	OMIM:602398
1718	DHCR24	HP:0001263	Global developmental delay	-	OMIM:615777
1718	DHCR24	HP:0001257	Spasticity	7/7	OMIM:602398
1718	DHCR24	HP:0001257	Spasticity	HP:0040281	ORPHA:35107
1718	DHCR24	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2/2	OMIM:602398
1718	DHCR24	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0034937	Elevated circulating desmosterol concentration	10/10	OMIM:602398
1718	DHCR24	HP:0002536	Abnormal cortical gyration	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0002515	Waddling gait	54/102	OMIM:131300
1718	DHCR24	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0000061	Ambiguous genitalia, female	1/2	OMIM:602398
1718	DHCR24	HP:0001382	Joint hypermobility	-	OMIM:615777
1718	DHCR24	HP:0000033	Ambiguous genitalia, male	1/2	OMIM:602398
1718	DHCR24	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1718	DHCR24	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1718	DHCR24	HP:0001331	Absent septum pellucidum	HP:0040281	ORPHA:35107
1718	DHCR24	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1718	DHCR24	HP:0001324	Muscle weakness	40/96	OMIM:131300
1718	DHCR24	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1718	DHCR24	HP:0001339	Lissencephaly	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0001338	Partial agenesis of the corpus callosum	-	OMIM:602398
1718	DHCR24	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1718	DHCR24	HP:0000007	Autosomal recessive inheritance	-	OMIM:602398
1718	DHCR24	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1718	DHCR24	HP:0001302	Pachygyria	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0002650	Scoliosis	12/14	OMIM:131300
1718	DHCR24	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1718	DHCR24	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1718	DHCR24	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1718	DHCR24	HP:0008905	Rhizomelia	2/5	OMIM:602398
1718	DHCR24	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1718	DHCR24	HP:0000193	Bifid uvula	HP:0040281	ORPHA:35107
1718	DHCR24	HP:0000160	Narrow mouth	HP:0040282	ORPHA:35107
1718	DHCR24	HP:0000176	Submucous cleft hard palate	HP:0040281	ORPHA:35107
1718	DHCR24	HP:0000175	Cleft palate	4/10	OMIM:602398
1718	DHCR24	HP:0000175	Cleft palate	2/7	OMIM:615777
1718	DHCR24	HP:0000175	Cleft palate	HP:0040281	ORPHA:35107
1718	DHCR24	HP:0000169	Gingival fibromatosis	1/2	OMIM:602398
1718	DHCR24	HP:0000104	Renal agenesis	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0002007	Frontal bossing	1/9	OMIM:602398
1718	DHCR24	HP:0002007	Frontal bossing	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0002063	Rigidity	HP:0040281	ORPHA:35107
1718	DHCR24	HP:0003388	Easy fatigability	36/76	OMIM:131300
1718	DHCR24	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1718	DHCR24	HP:0009473	Joint contracture of the hand	1/2	OMIM:602398
1718	DHCR24	HP:0002119	Ventriculomegaly	9/10	OMIM:602398
1718	DHCR24	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:35107
1718	DHCR24	HP:0002133	Status epilepticus	HP:0040282	ORPHA:35107
1718	DHCR24	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0003552	Muscle stiffness	HP:0040281	ORPHA:35107
1718	DHCR24	HP:0009748	Large earlobe	HP:0040282	ORPHA:35107
1718	DHCR24	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:35107
1718	DHCR24	HP:0003510	Severe short stature	7/7	OMIM:615777
1718	DHCR24	HP:0003510	Severe short stature	HP:0040281	ORPHA:35107
1718	DHCR24	HP:0002315	Headache	-	OMIM:131300
1718	DHCR24	HP:0004976	Knee dislocation	6/7	OMIM:615777
1718	DHCR24	HP:0009803	Short phalanx of finger	-	OMIM:615777
1718	DHCR24	HP:0010772	Anomalous pulmonary venous return	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0009763	Limb pain	63/92	OMIM:131300
1718	DHCR24	HP:0003621	Juvenile onset	-	OMIM:131300
1718	DHCR24	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1718	DHCR24	HP:0009085	Alveolar ridge overgrowth	1/2	OMIM:602398
1718	DHCR24	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1718	DHCR24	HP:0000639	Nystagmus	6/9	OMIM:602398
1718	DHCR24	HP:0000639	Nystagmus	HP:0040282	ORPHA:35107
1718	DHCR24	HP:6001056	Out-toeing	-	OMIM:131300
1718	DHCR24	HP:0000651	Diplopia	-	OMIM:131300
1718	DHCR24	HP:0001956	Truncal obesity	2/7	OMIM:615777
1718	DHCR24	HP:0001903	Anemia	HP:0040283	OMIM:131300
1718	DHCR24	HP:0010049	Short metacarpal	-	OMIM:615777
1718	DHCR24	HP:0000678	Dental crowding	-	OMIM:615777
1718	DHCR24	HP:0000670	Carious teeth	-	OMIM:131300
1718	DHCR24	HP:0011304	Broad thumb	2/7	OMIM:615777
1718	DHCR24	HP:0000668	Hypodontia	-	OMIM:615777
1718	DHCR24	HP:0000664	Synophrys	-	OMIM:615777
1718	DHCR24	HP:0004322	Short stature	4/4	OMIM:602398
1718	DHCR24	HP:0004334	Dermal atrophy	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0004396	Poor appetite	-	OMIM:131300
1718	DHCR24	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1718	DHCR24	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1718	DHCR24	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1718	DHCR24	HP:0003026	Short long bone	7/7	OMIM:615777
1718	DHCR24	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1718	DHCR24	HP:0005684	Distal arthrogryposis	5/6	OMIM:602398
1718	DHCR24	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1718	DHCR24	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1718	DHCR24	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1718	DHCR24	HP:0000750	Delayed speech and language development	-	OMIM:615777
1718	DHCR24	HP:0011461	Fetal onset	7/7	OMIM:615777
1718	DHCR24	HP:0000774	Narrow chest	2/7	OMIM:615777
1718	DHCR24	HP:0000773	Short ribs	1/5	OMIM:602398
1718	DHCR24	HP:0003107	Abnormal circulating cholesterol concentration	2/2	OMIM:602398
1718	DHCR24	HP:0003196	Short nose	-	OMIM:602398
1718	DHCR24	HP:0003196	Short nose	HP:0040282	ORPHA:35107
1718	DHCR24	HP:0000926	Platyspondyly	1/7	OMIM:615777
1718	DHCR24	HP:0003180	Flat acetabular roof	-	OMIM:615777
1718	DHCR24	HP:0034295	Reduced cerebral white matter volume	8/9	OMIM:602398
1718	DHCR24	HP:0004482	Relative macrocephaly	2/10	OMIM:602398
1718	DHCR24	HP:0004482	Relative macrocephaly	-	OMIM:615777
1718	DHCR24	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1718	DHCR24	HP:0005789	Generalized osteosclerosis	1/2	OMIM:602398
1718	DHCR24	HP:0000823	Delayed puberty	-	OMIM:131300
1718	DHCR24	HP:0000894	Short clavicles	-	OMIM:615777
1718	DHCR24	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1718	DHCR24	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1718	DHCR24	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0000286	Epicanthus	1/10	OMIM:602398
1718	DHCR24	HP:0000286	Epicanthus	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0000286	Epicanthus	1/7	OMIM:615777
1718	DHCR24	HP:0000280	Coarse facial features	2/7	OMIM:615777
1718	DHCR24	HP:0000278	Retrognathia	HP:0040281	ORPHA:35107
1718	DHCR24	HP:0000256	Macrocephaly	1/10	OMIM:602398
1718	DHCR24	HP:0000256	Macrocephaly	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0000268	Dolichocephaly	2/10	OMIM:602398
1718	DHCR24	HP:0002827	Hip dislocation	3/7	OMIM:615777
1718	DHCR24	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:602398
1718	DHCR24	HP:0000238	Hydrocephalus	-	OMIM:602398
1718	DHCR24	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0000252	Microcephaly	5/10	OMIM:602398
1718	DHCR24	HP:0000252	Microcephaly	HP:0040281	ORPHA:35107
1718	DHCR24	HP:0000252	Microcephaly	-	OMIM:615777
1718	DHCR24	HP:0002857	Genu valgum	-	OMIM:131300
1718	DHCR24	HP:0001533	Slender build	-	OMIM:131300
1718	DHCR24	HP:0001508	Failure to thrive	8/9	OMIM:602398
1718	DHCR24	HP:0001508	Failure to thrive	HP:0040281	ORPHA:35107
1718	DHCR24	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1718	DHCR24	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:35107
1718	DHCR24	HP:0001510	Growth delay	HP:0040281	ORPHA:35107
1718	DHCR24	HP:0007807	Optic nerve compression	-	OMIM:131300
1718	DHCR24	HP:0012368	Flat face	7/7	OMIM:615777
1718	DHCR24	HP:0000378	Cupped ear	1/2	OMIM:602398
1718	DHCR24	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1718	DHCR24	HP:0005160	Total anomalous pulmonary venous return	1/6	OMIM:602398
1718	DHCR24	HP:0000363	Abnormal earlobe morphology	HP:0040282	ORPHA:35107
1718	DHCR24	HP:0000365	Hearing impairment	10/67	OMIM:131300
1718	DHCR24	HP:0000358	Posteriorly rotated ears	1/2	OMIM:602398
1718	DHCR24	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:35107
1718	DHCR24	HP:0000366	Abnormality of the nose	HP:0040282	ORPHA:35107
1718	DHCR24	HP:0000369	Low-set ears	4/10	OMIM:602398
1718	DHCR24	HP:0000369	Low-set ears	HP:0040282	ORPHA:35107
1718	DHCR24	HP:0000341	Narrow forehead	2/10	OMIM:602398
1718	DHCR24	HP:0000343	Long philtrum	1/7	OMIM:615777
1718	DHCR24	HP:0011002	Osteopetrosis	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0011001	Increased bone mineral density	1/10	OMIM:602398
1718	DHCR24	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0011001	Increased bone mineral density	-	OMIM:131300
1718	DHCR24	HP:0000347	Micrognathia	9/10	OMIM:602398
1718	DHCR24	HP:0000347	Micrognathia	HP:0040281	ORPHA:35107
1718	DHCR24	HP:0002983	Micromelia	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0001643	Patent ductus arteriosus	1/2	OMIM:602398
1718	DHCR24	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0000311	Round face	2/7	OMIM:615777
1718	DHCR24	HP:0002970	Genu varum	-	OMIM:615777
1718	DHCR24	HP:0000303	Mandibular prognathia	-	OMIM:131300
1718	DHCR24	HP:0005281	Hypoplastic nasal bridge	1/2	OMIM:602398
1718	DHCR24	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1718	DHCR24	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:35107
1718	DHCR24	HP:0000486	Strabismus	6/9	OMIM:602398
1718	DHCR24	HP:0000486	Strabismus	HP:0040282	ORPHA:35107
1718	DHCR24	HP:0000494	Downslanted palpebral fissures	4/10	OMIM:602398
1718	DHCR24	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0000463	Anteverted nares	-	OMIM:602398
1718	DHCR24	HP:0000470	Short neck	2/7	OMIM:602398
1718	DHCR24	HP:0000470	Short neck	1/7	OMIM:615777
1718	DHCR24	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1718	DHCR24	HP:0001763	Pes planus	1/7	OMIM:615777
1718	DHCR24	HP:0001776	Bilateral talipes equinovarus	1/2	OMIM:602398
1718	DHCR24	HP:0001744	Splenomegaly	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0001840	Metatarsus adductus	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0001840	Metatarsus adductus	-	OMIM:615777
1718	DHCR24	HP:0000520	Proptosis	2/4	OMIM:131300
1718	DHCR24	HP:0000520	Proptosis	7/7	OMIM:615777
1718	DHCR24	HP:0000506	Telecanthus	1/10	OMIM:602398
1718	DHCR24	HP:0000592	Blue sclerae	2/7	OMIM:615777
1718	DHCR24	HP:0011220	Prominent forehead	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1718	DHCR24	HP:0001883	Talipes	4/6	OMIM:602398
1718	DHCR24	HP:0001883	Talipes	HP:0040283	ORPHA:35107
1718	DHCR24	HP:0012514	Lower limb pain	4/4	OMIM:131300
1719	DHFR	HP:0002421	Poor head control	-	OMIM:613839
1719	DHFR	HP:0001290	Generalized hypotonia	-	OMIM:613839
1719	DHFR	HP:0001252	Hypotonia	-	OMIM:613839
1719	DHFR	HP:0001251	Ataxia	-	OMIM:613839
1719	DHFR	HP:0001263	Global developmental delay	-	OMIM:613839
1719	DHFR	HP:0000007	Autosomal recessive inheritance	-	OMIM:613839
1719	DHFR	HP:0001321	Cerebellar hypoplasia	-	OMIM:613839
1719	DHFR	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/3	OMIM:613839
1719	DHFR	HP:0002059	Cerebral atrophy	-	OMIM:613839
1719	DHFR	HP:0002121	Generalized non-motor (absence) seizure	-	OMIM:613839
1719	DHFR	HP:0002240	Hepatomegaly	-	OMIM:613839
1719	DHFR	HP:0011968	Feeding difficulties	-	OMIM:613839
1719	DHFR	HP:0025097	Eyelid myoclonus	-	OMIM:613839
1719	DHFR	HP:0003621	Juvenile onset	1/3	OMIM:613839
1719	DHFR	HP:0005518	Increased mean corpuscular volume	3/3	OMIM:613839
1719	DHFR	HP:0040087	Abnormal blood folate concentration	0/3	OMIM:613839
1719	DHFR	HP:0000980	Pallor	-	OMIM:613839
1719	DHFR	HP:0000952	Jaundice	-	OMIM:613839
1719	DHFR	HP:0011149	Absence seizure with eyelid myoclonia	2/3	OMIM:613839
1719	DHFR	HP:0012448	Delayed myelination	-	OMIM:613839
1719	DHFR	HP:0012446	Decreased CSF 5-methyltetrahydrofolate concentration	2/2	OMIM:613839
1719	DHFR	HP:0005484	Secondary microcephaly	-	OMIM:613839
1719	DHFR	HP:0001889	Megaloblastic anemia	2/3	OMIM:613839
1719	DHFR	HP:0001873	Thrombocytopenia	-	OMIM:613839
1719	DHFR	HP:0001876	Pancytopenia	-	OMIM:613839
1723	DHODH	HP:0001159	Syndactyly	-	OMIM:263750
1723	DHODH	HP:0008551	Microtia	HP:0040281	ORPHA:246
1723	DHODH	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1723	DHODH	HP:0001293	Cranial nerve compression	-	OMIM:131300
1723	DHODH	HP:0001252	Hypotonia	2/7	OMIM:615777
1723	DHODH	HP:0001249	Intellectual disability	5/7	OMIM:615777
1723	DHODH	HP:0001263	Global developmental delay	-	OMIM:615777
1723	DHODH	HP:0002558	Supernumerary nipple	-	OMIM:263750
1723	DHODH	HP:0002558	Supernumerary nipple	HP:0040281	ORPHA:246
1723	DHODH	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:246
1723	DHODH	HP:0002515	Waddling gait	54/102	OMIM:131300
1723	DHODH	HP:0000077	Abnormality of the kidney	-	OMIM:263750
1723	DHODH	HP:0001374	Congenital hip dislocation	-	OMIM:263750
1723	DHODH	HP:0000054	Micropenis	-	OMIM:263750
1723	DHODH	HP:0001382	Joint hypermobility	-	OMIM:615777
1723	DHODH	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1723	DHODH	HP:0000028	Cryptorchidism	-	OMIM:263750
1723	DHODH	HP:0008897	Postnatal growth retardation	-	OMIM:263750
1723	DHODH	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1723	DHODH	HP:0007477	Abnormal dermatoglyphics	HP:0040281	ORPHA:246
1723	DHODH	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1723	DHODH	HP:0001324	Muscle weakness	40/96	OMIM:131300
1723	DHODH	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1723	DHODH	HP:0000007	Autosomal recessive inheritance	-	OMIM:263750
1723	DHODH	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1723	DHODH	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1723	DHODH	HP:0002650	Scoliosis	12/14	OMIM:131300
1723	DHODH	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1723	DHODH	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1723	DHODH	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1723	DHODH	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1723	DHODH	HP:0000175	Cleft palate	-	OMIM:263750
1723	DHODH	HP:0000175	Cleft palate	HP:0040282	ORPHA:246
1723	DHODH	HP:0000175	Cleft palate	2/7	OMIM:615777
1723	DHODH	HP:0007651	Ectropion of lower eyelids	HP:0040281	ORPHA:246
1723	DHODH	HP:0002021	Pyloric stenosis	-	OMIM:263750
1723	DHODH	HP:0003388	Easy fatigability	36/76	OMIM:131300
1723	DHODH	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1723	DHODH	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:246
1723	DHODH	HP:0003510	Severe short stature	7/7	OMIM:615777
1723	DHODH	HP:0002315	Headache	-	OMIM:131300
1723	DHODH	HP:0004976	Knee dislocation	6/7	OMIM:615777
1723	DHODH	HP:0009803	Short phalanx of finger	-	OMIM:615777
1723	DHODH	HP:0009778	Short thumb	-	OMIM:263750
1723	DHODH	HP:0009763	Limb pain	63/92	OMIM:131300
1723	DHODH	HP:0003621	Juvenile onset	-	OMIM:131300
1723	DHODH	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1723	DHODH	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1723	DHODH	HP:6001056	Out-toeing	-	OMIM:131300
1723	DHODH	HP:0000651	Diplopia	-	OMIM:131300
1723	DHODH	HP:0000625	Eyelid coloboma	HP:0040281	ORPHA:246
1723	DHODH	HP:0000625	Eyelid coloboma	-	OMIM:263750
1723	DHODH	HP:0001956	Truncal obesity	2/7	OMIM:615777
1723	DHODH	HP:0001903	Anemia	HP:0040283	OMIM:131300
1723	DHODH	HP:0010049	Short metacarpal	-	OMIM:615777
1723	DHODH	HP:0000698	Conical tooth	-	OMIM:263750
1723	DHODH	HP:0000678	Dental crowding	-	OMIM:615777
1723	DHODH	HP:0000656	Ectropion	-	OMIM:263750
1723	DHODH	HP:0000670	Carious teeth	-	OMIM:131300
1723	DHODH	HP:0011304	Broad thumb	2/7	OMIM:615777
1723	DHODH	HP:0000668	Hypodontia	-	OMIM:615777
1723	DHODH	HP:0000664	Synophrys	-	OMIM:615777
1723	DHODH	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:246
1723	DHODH	HP:0004396	Poor appetite	-	OMIM:131300
1723	DHODH	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1723	DHODH	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1723	DHODH	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1723	DHODH	HP:0003026	Short long bone	7/7	OMIM:615777
1723	DHODH	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1723	DHODH	HP:0003022	Hypoplasia of the ulna	-	OMIM:263750
1723	DHODH	HP:0003022	Hypoplasia of the ulna	HP:0040281	ORPHA:246
1723	DHODH	HP:0000767	Pectus excavatum	-	OMIM:263750
1723	DHODH	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1723	DHODH	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1723	DHODH	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1723	DHODH	HP:0000750	Delayed speech and language development	-	OMIM:615777
1723	DHODH	HP:0011461	Fetal onset	7/7	OMIM:615777
1723	DHODH	HP:0000774	Narrow chest	2/7	OMIM:615777
1723	DHODH	HP:0000926	Platyspondyly	1/7	OMIM:615777
1723	DHODH	HP:0003180	Flat acetabular roof	-	OMIM:615777
1723	DHODH	HP:0004482	Relative macrocephaly	-	OMIM:615777
1723	DHODH	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1723	DHODH	HP:0100335	Non-midline cleft of the upper lip	HP:0040282	ORPHA:246
1723	DHODH	HP:0000823	Delayed puberty	-	OMIM:131300
1723	DHODH	HP:0000894	Short clavicles	-	OMIM:615777
1723	DHODH	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1723	DHODH	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1723	DHODH	HP:0000286	Epicanthus	1/7	OMIM:615777
1723	DHODH	HP:0000280	Coarse facial features	2/7	OMIM:615777
1723	DHODH	HP:0000272	Malar flattening	-	OMIM:263750
1723	DHODH	HP:0000272	Malar flattening	HP:0040281	ORPHA:246
1723	DHODH	HP:0002827	Hip dislocation	3/7	OMIM:615777
1723	DHODH	HP:0000252	Microcephaly	-	OMIM:615777
1723	DHODH	HP:0002857	Genu valgum	-	OMIM:131300
1723	DHODH	HP:0001533	Slender build	-	OMIM:131300
1723	DHODH	HP:0000204	Cleft upper lip	-	OMIM:263750
1723	DHODH	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1723	DHODH	HP:0001510	Growth delay	-	OMIM:263750
1723	DHODH	HP:0007807	Optic nerve compression	-	OMIM:131300
1723	DHODH	HP:0012368	Flat face	7/7	OMIM:615777
1723	DHODH	HP:0000378	Cupped ear	-	OMIM:263750
1723	DHODH	HP:0000378	Cupped ear	HP:0040281	ORPHA:246
1723	DHODH	HP:0005211	Midgut malrotation	-	OMIM:263750
1723	DHODH	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1723	DHODH	HP:0002946	Supernumerary vertebrae	-	OMIM:263750
1723	DHODH	HP:0000365	Hearing impairment	10/67	OMIM:131300
1723	DHODH	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:246
1723	DHODH	HP:0000370	Abnormality of the middle ear	HP:0040282	ORPHA:246
1723	DHODH	HP:0000369	Low-set ears	-	OMIM:263750
1723	DHODH	HP:0000343	Long philtrum	1/7	OMIM:615777
1723	DHODH	HP:0011001	Increased bone mineral density	-	OMIM:131300
1723	DHODH	HP:0000347	Micrognathia	-	OMIM:263750
1723	DHODH	HP:0000347	Micrognathia	HP:0040281	ORPHA:246
1723	DHODH	HP:0000311	Round face	2/7	OMIM:615777
1723	DHODH	HP:0002974	Radioulnar synostosis	-	OMIM:263750
1723	DHODH	HP:0002984	Hypoplasia of the radius	-	OMIM:263750
1723	DHODH	HP:0002984	Hypoplasia of the radius	HP:0040281	ORPHA:246
1723	DHODH	HP:0002970	Genu varum	-	OMIM:615777
1723	DHODH	HP:0000303	Mandibular prognathia	-	OMIM:131300
1723	DHODH	HP:0000405	Conductive hearing impairment	-	OMIM:263750
1723	DHODH	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:246
1723	DHODH	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1723	DHODH	HP:0000486	Strabismus	HP:0040283	ORPHA:246
1723	DHODH	HP:0000494	Downslanted palpebral fissures	-	OMIM:263750
1723	DHODH	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:246
1723	DHODH	HP:0000470	Short neck	1/7	OMIM:615777
1723	DHODH	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1723	DHODH	HP:0001763	Pes planus	1/7	OMIM:615777
1723	DHODH	HP:0000453	Choanal atresia	-	OMIM:263750
1723	DHODH	HP:0001760	Abnormal foot morphology	-	OMIM:263750
1723	DHODH	HP:0001840	Metatarsus adductus	-	OMIM:615777
1723	DHODH	HP:0000520	Proptosis	2/4	OMIM:131300
1723	DHODH	HP:0000520	Proptosis	7/7	OMIM:615777
1723	DHODH	HP:0000592	Blue sclerae	2/7	OMIM:615777
1723	DHODH	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1723	DHODH	HP:0012514	Lower limb pain	4/4	OMIM:131300
1725	DHPS	HP:0010880	Increased nuchal translucency	2/5	OMIM:618480
1725	DHPS	HP:0001250	Seizure	4/4	OMIM:618480
1725	DHPS	HP:0001252	Hypotonia	5/5	OMIM:618480
1725	DHPS	HP:0001263	Global developmental delay	5/5	OMIM:618480
1725	DHPS	HP:0001257	Spasticity	1/5	OMIM:618480
1725	DHPS	HP:0410263	Brain imaging abnormality	0/4	OMIM:618480
1725	DHPS	HP:0100876	Infra-orbital crease	2/5	OMIM:618480
1725	DHPS	HP:0002509	Limb hypertonia	2/5	OMIM:618480
1725	DHPS	HP:0000007	Autosomal recessive inheritance	-	OMIM:618480
1725	DHPS	HP:0008936	Axial hypotonia	2/5	OMIM:618480
1725	DHPS	HP:0002019	Constipation	2/5	OMIM:618480
1725	DHPS	HP:0011856	Pica	1/5	OMIM:618480
1725	DHPS	HP:0003593	Infantile onset	5/5	OMIM:618480
1725	DHPS	HP:0002353	EEG abnormality	5/5	OMIM:618480
1725	DHPS	HP:0002317	Unsteady gait	-	OMIM:618480
1725	DHPS	HP:0100602	Preeclampsia	1/5	OMIM:618480
1725	DHPS	HP:0004209	Clinodactyly of the 5th finger	1/5	OMIM:618480
1725	DHPS	HP:0004322	Short stature	1/5	OMIM:618480
1725	DHPS	HP:0031936	Delayed ability to walk	3/5	OMIM:618480
1725	DHPS	HP:0100023	Recurrent hand flapping	3/5	OMIM:618480
1725	DHPS	HP:0000750	Delayed speech and language development	5/5	OMIM:618480
1725	DHPS	HP:0034210	Fetal intraventricular hemorrhage	1/5	OMIM:618480
1725	DHPS	HP:0000960	Sacral dimple	2/5	OMIM:618480
1725	DHPS	HP:0000219	Thin upper lip vermilion	1/5	OMIM:618480
1725	DHPS	HP:0000218	High palate	1/5	OMIM:618480
1725	DHPS	HP:0001562	Oligohydramnios	1/5	OMIM:618480
1725	DHPS	HP:0000369	Low-set ears	1/5	OMIM:618480
1725	DHPS	HP:0000319	Smooth philtrum	1/5	OMIM:618480
1725	DHPS	HP:0001622	Premature birth	1/5	OMIM:618480
1725	DHPS	HP:0000490	Deeply set eye	4/5	OMIM:618480
1725	DHPS	HP:0000426	Prominent nasal bridge	1/5	OMIM:618480
1727	CYB5R3	HP:0025118	Lip discoloration	HP:0040282	ORPHA:621
1727	CYB5R3	HP:0002451	Limb dystonia	HP:0040283	ORPHA:621
1727	CYB5R3	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:621
1727	CYB5R3	HP:0001276	Hypertonia	1/1	OMIM:250800
1727	CYB5R3	HP:0001276	Hypertonia	HP:0040284	ORPHA:621
1727	CYB5R3	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:621
1727	CYB5R3	HP:0001250	Seizure	HP:0040284	ORPHA:621
1727	CYB5R3	HP:0001249	Intellectual disability	-	OMIM:250800
1727	CYB5R3	HP:0001263	Global developmental delay	HP:0040283	ORPHA:621
1727	CYB5R3	HP:0001263	Global developmental delay	1/1	OMIM:250800
1727	CYB5R3	HP:0001257	Spasticity	HP:0040283	ORPHA:621
1727	CYB5R3	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:621
1727	CYB5R3	HP:0000007	Autosomal recessive inheritance	-	OMIM:250800
1727	CYB5R3	HP:0001337	Tremor	1/1	OMIM:250800
1727	CYB5R3	HP:0012119	Methemoglobinemia	1/1	OMIM:250800
1727	CYB5R3	HP:0012119	Methemoglobinemia	HP:0040281	ORPHA:621
1727	CYB5R3	HP:6000133	Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity	1/1	OMIM:250800
1727	CYB5R3	HP:0002179	Opisthotonus	-	OMIM:250800
1727	CYB5R3	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:621
1727	CYB5R3	HP:0020045	Esodeviation	1/1	OMIM:250800
1727	CYB5R3	HP:0002315	Headache	-	OMIM:250800
1727	CYB5R3	HP:0007112	Temporal cortical atrophy	HP:0040283	ORPHA:621
1727	CYB5R3	HP:0002305	Athetosis	HP:0040283	ORPHA:621
1727	CYB5R3	HP:0006808	Cerebral hypomyelination	HP:0040283	ORPHA:621
1727	CYB5R3	HP:0001901	Polycythemia	-	OMIM:250800
1727	CYB5R3	HP:0012697	Small basal ganglia	HP:0040284	ORPHA:621
1727	CYB5R3	HP:0011344	Severe global developmental delay	HP:0040283	ORPHA:621
1727	CYB5R3	HP:0006913	Frontal cortical atrophy	HP:0040283	ORPHA:621
1727	CYB5R3	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:621
1727	CYB5R3	HP:0000961	Cyanosis	1/1	OMIM:250800
1727	CYB5R3	HP:0000961	Cyanosis	HP:0040281	ORPHA:621
1727	CYB5R3	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:621
1727	CYB5R3	HP:0000252	Microcephaly	HP:0040283	ORPHA:621
1727	CYB5R3	HP:0000252	Microcephaly	-	OMIM:250800
1727	CYB5R3	HP:0002875	Exertional dyspnea	-	OMIM:250800
1727	CYB5R3	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:621
1727	CYB5R3	HP:0001518	Small for gestational age	HP:0040284	ORPHA:621
1727	CYB5R3	HP:0001510	Growth delay	-	OMIM:250800
1727	CYB5R3	HP:0000486	Strabismus	-	OMIM:250800
1727	CYB5R3	HP:0012448	Delayed myelination	HP:0040284	ORPHA:621
1727	CYB5R3	HP:0000592	Blue sclerae	HP:0040283	ORPHA:621
1727	CYB5R3	HP:0000565	Esotropia	HP:0040283	ORPHA:621
1729	DIAPH1	HP:0002465	Poor speech	-	OMIM:616632
1729	DIAPH1	HP:0032218	Decreased proportion of CD4-positive T cells	HP:0040283	ORPHA:477814
1729	DIAPH1	HP:0001250	Seizure	HP:0040281	ORPHA:477814
1729	DIAPH1	HP:0001250	Seizure	HP:0040282	ORPHA:2573
1729	DIAPH1	HP:0001250	Seizure	9/9	OMIM:616632
1729	DIAPH1	HP:0001252	Hypotonia	HP:0040283	ORPHA:477814
1729	DIAPH1	HP:0001252	Hypotonia	1/4	OMIM:616632
1729	DIAPH1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2573
1729	DIAPH1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:477814
1729	DIAPH1	HP:0001263	Global developmental delay	5/5	OMIM:616632
1729	DIAPH1	HP:0033725	Thin corpus callosum	HP:0040283	ORPHA:477814
1729	DIAPH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616632
1729	DIAPH1	HP:0002665	Lymphoma	HP:0040283	ORPHA:477814
1729	DIAPH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:124900
1729	DIAPH1	HP:0012191	B-cell lymphoma	HP:0040283	ORPHA:477814
1729	DIAPH1	HP:0006285	Enamel hypomineralization	HP:0040283	ORPHA:494444
1729	DIAPH1	HP:0000132	Menorrhagia	1/8	OMIM:124900
1729	DIAPH1	HP:0002719	Recurrent infections	HP:0040282	ORPHA:477814
1729	DIAPH1	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:616632
1729	DIAPH1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2573
1729	DIAPH1	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:477814
1729	DIAPH1	HP:0002110	Bronchiectasis	1/4	OMIM:616632
1729	DIAPH1	HP:0002187	Intellectual disability, profound	HP:0040281	ORPHA:477814
1729	DIAPH1	HP:0011891	Post-partum hemorrhage	1/8	OMIM:124900
1729	DIAPH1	HP:0011877	Increased mean platelet volume	HP:0040281	ORPHA:494444
1729	DIAPH1	HP:0003593	Infantile onset	8/9	OMIM:616632
1729	DIAPH1	HP:0100704	Cerebral visual impairment	HP:0040281	ORPHA:477814
1729	DIAPH1	HP:0100704	Cerebral visual impairment	5/5	OMIM:616632
1729	DIAPH1	HP:0003540	Impaired platelet aggregation	0/3	OMIM:124900
1729	DIAPH1	HP:0001009	Telangiectasia	HP:0040281	ORPHA:2573
1729	DIAPH1	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:2573
1729	DIAPH1	HP:0003623	Neonatal onset	1/4	OMIM:616632
1729	DIAPH1	HP:0003621	Juvenile onset	4/7	OMIM:124900
1729	DIAPH1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:477814
1729	DIAPH1	HP:0000648	Optic atrophy	3/4	OMIM:616632
1729	DIAPH1	HP:0011330	Metopic synostosis	HP:0040283	ORPHA:477814
1729	DIAPH1	HP:0004325	Decreased body weight	HP:0040282	ORPHA:477814
1729	DIAPH1	HP:0004322	Short stature	HP:0040282	ORPHA:477814
1729	DIAPH1	HP:0004322	Short stature	7/9	OMIM:616632
1729	DIAPH1	HP:0011463	Childhood onset	3/7	OMIM:124900
1729	DIAPH1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:477814
1729	DIAPH1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:477814
1729	DIAPH1	HP:0034311	Hypoplastic optic chiasm	HP:0040283	ORPHA:477814
1729	DIAPH1	HP:0040185	Macrothrombocytopenia	8/8	OMIM:124900
1729	DIAPH1	HP:0000253	Progressive microcephaly	HP:0040281	ORPHA:477814
1729	DIAPH1	HP:0000252	Microcephaly	8/9	OMIM:616632
1729	DIAPH1	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:477814
1729	DIAPH1	HP:0001510	Growth delay	5/5	OMIM:616632
1729	DIAPH1	HP:0005387	Combined immunodeficiency	HP:0040283	ORPHA:477814
1729	DIAPH1	HP:0000408	Progressive sensorineural hearing impairment	HP:0040281	ORPHA:494444
1729	DIAPH1	HP:0000407	Sensorineural hearing impairment	8/8	OMIM:124900
1729	DIAPH1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:477814
1729	DIAPH1	HP:0001891	Iron deficiency anemia	HP:0040282	ORPHA:494444
1729	DIAPH1	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:494444
1729	DIAPH1	HP:0001873	Thrombocytopenia	8/8	OMIM:124900
1729	DIAPH1	HP:0001875	Decreased total neutrophil count	HP:0040282	ORPHA:494444
1730	DIAPH2	HP:0001423	X-linked dominant inheritance	-	OMIM:300511
1730	DIAPH2	HP:0008232	Elevated circulating follicle stimulating hormone level	2/2	OMIM:300511
1730	DIAPH2	HP:0008209	Premature ovarian insufficiency	1/1	OMIM:300511
1730	DIAPH2	HP:0011969	Elevated circulating luteinizing hormone level	2/2	OMIM:300511
1730	DIAPH2	HP:0011462	Young adult onset	2/2	OMIM:300511
1730	DIAPH2	HP:0000869	Secondary amenorrhea	2/2	OMIM:300511
1733	DIO1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619855
1733	DIO1	HP:0003124	Hypercholesterolemia	1/5	OMIM:619855
1733	DIO1	HP:0034289	Elevated circulating rT3/T3 ratio	8/8	OMIM:619855
1733	DIO1	HP:0034288	Elevated circulating reverse T3 concentration	8/8	OMIM:619855
1736	DKC1	HP:0009926	Epiphora	-	OMIM:305000
1736	DKC1	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:1775
1736	DKC1	HP:0001276	Hypertonia	HP:0040282	ORPHA:3322
1736	DKC1	HP:0001272	Cerebellar atrophy	2/15	OMIM:301108
1736	DKC1	HP:0001251	Ataxia	HP:0040283	OMIM:305000
1736	DKC1	HP:0001251	Ataxia	HP:0040283	ORPHA:3322
1736	DKC1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3322
1736	DKC1	HP:0001249	Intellectual disability	-	OMIM:305000
1736	DKC1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:3322
1736	DKC1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3322
1736	DKC1	HP:0001263	Global developmental delay	0/3	OMIM:305000
1736	DKC1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1775
1736	DKC1	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1775
1736	DKC1	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1775
1736	DKC1	HP:0007440	Generalized hyperpigmentation	HP:0040282	ORPHA:3322
1736	DKC1	HP:0007427	Reticulated skin pigmentation	3/3	OMIM:305000
1736	DKC1	HP:0008734	Decreased testicular size	-	OMIM:305000
1736	DKC1	HP:0007392	Excessive wrinkled skin	HP:0040282	ORPHA:3322
1736	DKC1	HP:0008661	Urethral stenosis	HP:0040282	ORPHA:1775
1736	DKC1	HP:0008661	Urethral stenosis	-	OMIM:305000
1736	DKC1	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:3322
1736	DKC1	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:1775
1736	DKC1	HP:0003819	Death in childhood	7/15	OMIM:301108
1736	DKC1	HP:0000085	Horseshoe kidney	-	OMIM:305000
1736	DKC1	HP:0000097	Focal segmental glomerulosclerosis	1/15	OMIM:301108
1736	DKC1	HP:0001399	Hepatic failure	HP:0040283	ORPHA:1775
1736	DKC1	HP:0001394	Cirrhosis	-	OMIM:305000
1736	DKC1	HP:0001394	Cirrhosis	HP:0040283	ORPHA:1775
1736	DKC1	HP:0000047	Hypospadias	-	OMIM:305000
1736	DKC1	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:1775
1736	DKC1	HP:0000028	Cryptorchidism	-	OMIM:305000
1736	DKC1	HP:0002664	Neoplasm	HP:0040283	ORPHA:3322
1736	DKC1	HP:0002664	Neoplasm	HP:0040282	ORPHA:1775
1736	DKC1	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040282	ORPHA:1775
1736	DKC1	HP:0002665	Lymphoma	HP:0040283	ORPHA:1775
1736	DKC1	HP:0002650	Scoliosis	HP:0040283	ORPHA:1775
1736	DKC1	HP:0001321	Cerebellar hypoplasia	HP:0040283	OMIM:305000
1736	DKC1	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:3322
1736	DKC1	HP:0012189	Hodgkin lymphoma	-	OMIM:305000
1736	DKC1	HP:0012182	Oropharyngeal squamous cell carcinoma	1/3	OMIM:305000
1736	DKC1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:1775
1736	DKC1	HP:0000100	Nephrotic syndrome	6/15	OMIM:301108
1736	DKC1	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:1775
1736	DKC1	HP:0001423	X-linked dominant inheritance	-	OMIM:301108
1736	DKC1	HP:0001419	X-linked recessive inheritance	-	OMIM:305000
1736	DKC1	HP:0002745	Oral leukoplakia	3/3	OMIM:305000
1736	DKC1	HP:0002745	Oral leukoplakia	HP:0040282	ORPHA:3322
1736	DKC1	HP:0002745	Oral leukoplakia	HP:0040281	ORPHA:1775
1736	DKC1	HP:0002721	Immunodeficiency	-	OMIM:305000
1736	DKC1	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:3322
1736	DKC1	HP:0002024	Malabsorption	HP:0040282	ORPHA:1775
1736	DKC1	HP:0002091	Restrictive ventilatory defect	-	OMIM:305000
1736	DKC1	HP:0002043	Esophageal stricture	-	OMIM:305000
1736	DKC1	HP:0010450	Esophageal stenosis	HP:0040282	ORPHA:1775
1736	DKC1	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:1775
1736	DKC1	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:3322
1736	DKC1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:3322
1736	DKC1	HP:0002165	Nail pterygium	-	OMIM:305000
1736	DKC1	HP:0003593	Infantile onset	4/11	OMIM:301108
1736	DKC1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:1775
1736	DKC1	HP:0002216	Premature graying of hair	-	OMIM:305000
1736	DKC1	HP:0002216	Premature graying of hair	HP:0040282	ORPHA:3322
1736	DKC1	HP:0002216	Premature graying of hair	HP:0040283	ORPHA:1775
1736	DKC1	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:3322
1736	DKC1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1775
1736	DKC1	HP:0002206	Pulmonary fibrosis	-	OMIM:305000
1736	DKC1	HP:0008404	Nail dystrophy	3/3	OMIM:305000
1736	DKC1	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:3322
1736	DKC1	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:1775
1736	DKC1	HP:0010624	Aplastic/hypoplastic toenail	HP:0040282	ORPHA:1775
1736	DKC1	HP:0004808	Acute myeloid leukemia	-	OMIM:305000
1736	DKC1	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:1775
1736	DKC1	HP:0001059	Pterygium	-	OMIM:305000
1736	DKC1	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:1775
1736	DKC1	HP:0200037	Skin vesicle	HP:0040283	ORPHA:1775
1736	DKC1	HP:0100670	Coarse metaphyseal trabecularization	HP:0040282	ORPHA:1775
1736	DKC1	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:1775
1736	DKC1	HP:0200042	Skin ulcer	HP:0040282	ORPHA:1775
1736	DKC1	HP:0003621	Juvenile onset	3/3	OMIM:305000
1736	DKC1	HP:0003621	Juvenile onset	4/11	OMIM:301108
1736	DKC1	HP:0005528	Bone marrow hypocellularity	-	OMIM:305000
1736	DKC1	HP:0005528	Bone marrow hypocellularity	3/15	OMIM:301108
1736	DKC1	HP:0005528	Bone marrow hypocellularity	HP:0040283	ORPHA:3322
1736	DKC1	HP:0005528	Bone marrow hypocellularity	HP:0040282	ORPHA:1775
1736	DKC1	HP:0000648	Optic atrophy	-	OMIM:305000
1736	DKC1	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:3322
1736	DKC1	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:1775
1736	DKC1	HP:0000600	Abnormality of the pharynx	HP:0040282	ORPHA:1775
1736	DKC1	HP:0001903	Anemia	-	OMIM:305000
1736	DKC1	HP:0001903	Anemia	HP:0040282	ORPHA:3322
1736	DKC1	HP:0001903	Anemia	HP:0040281	ORPHA:1775
1736	DKC1	HP:0011358	Generalized hypopigmentation of hair	HP:0040282	ORPHA:3322
1736	DKC1	HP:0011364	White hair	HP:0040283	ORPHA:1775
1736	DKC1	HP:0012685	Decreased pineal volume	2/15	OMIM:301108
1736	DKC1	HP:0000679	Taurodontia	HP:0040282	ORPHA:1775
1736	DKC1	HP:0000653	Sparse eyelashes	-	OMIM:305000
1736	DKC1	HP:0000670	Carious teeth	-	OMIM:305000
1736	DKC1	HP:0000670	Carious teeth	HP:0040282	ORPHA:1775
1736	DKC1	HP:0000668	Hypodontia	HP:0040282	ORPHA:1775
1736	DKC1	HP:0004322	Short stature	HP:0040281	ORPHA:3322
1736	DKC1	HP:0004322	Short stature	-	OMIM:305000
1736	DKC1	HP:0004322	Short stature	HP:0040282	ORPHA:1775
1736	DKC1	HP:0004334	Dermal atrophy	-	OMIM:305000
1736	DKC1	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:3322
1736	DKC1	HP:0004387	Enterocolitis	6/15	OMIM:301108
1736	DKC1	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:1775
1736	DKC1	HP:0012733	Macule	HP:0040281	ORPHA:1775
1736	DKC1	HP:0000704	Periodontitis	HP:0040282	ORPHA:1775
1736	DKC1	HP:0011463	Childhood onset	3/11	OMIM:301108
1736	DKC1	HP:0030731	Carcinoma	-	OMIM:305000
1736	DKC1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1775
1736	DKC1	HP:0000975	Hyperhidrosis	-	OMIM:305000
1736	DKC1	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1775
1736	DKC1	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:1775
1736	DKC1	HP:0000953	Hyperpigmentation of the skin	-	OMIM:305000
1736	DKC1	HP:0000962	Hyperkeratosis	1/15	OMIM:301108
1736	DKC1	HP:0000939	Osteoporosis	-	OMIM:305000
1736	DKC1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:1775
1736	DKC1	HP:0008070	Sparse hair	HP:0040282	ORPHA:1775
1736	DKC1	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1775
1736	DKC1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:1775
1736	DKC1	HP:0001596	Alopecia	-	OMIM:305000
1736	DKC1	HP:0001596	Alopecia	HP:0040283	ORPHA:1775
1736	DKC1	HP:0000252	Microcephaly	HP:0040281	ORPHA:3322
1736	DKC1	HP:0000252	Microcephaly	-	OMIM:305000
1736	DKC1	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:1775
1736	DKC1	HP:0002860	Squamous cell carcinoma	-	OMIM:305000
1736	DKC1	HP:0002863	Myelodysplasia	-	OMIM:305000
1736	DKC1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:3322
1736	DKC1	HP:0001508	Failure to thrive	8/15	OMIM:301108
1736	DKC1	HP:0001511	Intrauterine growth retardation	-	OMIM:305000
1736	DKC1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3322
1736	DKC1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1775
1736	DKC1	HP:0005212	Anal mucosal leukoplakia	-	OMIM:305000
1736	DKC1	HP:0006480	Premature loss of teeth	-	OMIM:305000
1736	DKC1	HP:0000365	Hearing impairment	12/13	OMIM:301108
1736	DKC1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1775
1736	DKC1	HP:0000347	Micrognathia	2/15	OMIM:301108
1736	DKC1	HP:0000327	Hypoplasia of the maxilla	2/15	OMIM:301108
1736	DKC1	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:1775
1736	DKC1	HP:0000499	Abnormal eyelash morphology	HP:0040283	ORPHA:1775
1736	DKC1	HP:0000498	Blepharitis	-	OMIM:305000
1736	DKC1	HP:0000498	Blepharitis	HP:0040283	ORPHA:1775
1736	DKC1	HP:0005374	Cellular immunodeficiency	HP:0040282	ORPHA:1775
1736	DKC1	HP:0000486	Strabismus	-	OMIM:305000
1736	DKC1	HP:0001741	Phimosis	-	OMIM:305000
1736	DKC1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1775
1736	DKC1	HP:0000518	Cataract	-	OMIM:305000
1736	DKC1	HP:0000518	Cataract	10/15	OMIM:301108
1736	DKC1	HP:0000518	Cataract	HP:0040283	ORPHA:1775
1736	DKC1	HP:0000509	Conjunctivitis	-	OMIM:305000
1736	DKC1	HP:0000501	Glaucoma	1/15	OMIM:301108
1736	DKC1	HP:0001809	Split nail	-	OMIM:305000
1736	DKC1	HP:0001807	Ridged nail	-	OMIM:305000
1736	DKC1	HP:0012595	Mild proteinuria	1/15	OMIM:301108
1736	DKC1	HP:0000568	Microphthalmia	1/15	OMIM:301108
1736	DKC1	HP:0000534	Abnormal eyebrow morphology	HP:0040283	ORPHA:1775
1736	DKC1	HP:0001881	Abnormal leukocyte morphology	HP:0040283	ORPHA:3322
1736	DKC1	HP:0001882	Decreased total leukocyte count	-	OMIM:305000
1736	DKC1	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:1775
1736	DKC1	HP:0001873	Thrombocytopenia	1/3	OMIM:305000
1736	DKC1	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:3322
1736	DKC1	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:1775
1736	DKC1	HP:0001876	Pancytopenia	-	OMIM:305000
1737	DLAT	HP:0002465	Poor speech	-	OMIM:245348
1737	DLAT	HP:0002454	Eye of the tiger anomaly of globus pallidus	HP:0040282	ORPHA:79244
1737	DLAT	HP:0007325	Generalized dystonia	1/2	OMIM:245348
1737	DLAT	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:79244
1737	DLAT	HP:0001276	Hypertonia	HP:0040282	ORPHA:79244
1737	DLAT	HP:0001270	Motor delay	1/2	OMIM:245348
1737	DLAT	HP:0001288	Gait disturbance	HP:0040282	ORPHA:79244
1737	DLAT	HP:0001256	Intellectual disability, mild	-	OMIM:245348
1737	DLAT	HP:0001252	Hypotonia	1/2	OMIM:245348
1737	DLAT	HP:0001251	Ataxia	1/2	OMIM:245348
1737	DLAT	HP:0001266	Choreoathetosis	1/2	OMIM:245348
1737	DLAT	HP:0001260	Dysarthria	HP:0040282	ORPHA:79244
1737	DLAT	HP:0001263	Global developmental delay	12/12	OMIM:245348
1737	DLAT	HP:0001263	Global developmental delay	HP:0040282	ORPHA:79244
1737	DLAT	HP:0500231	Abnormal CSF pyruvate family amino acid concentration	HP:0040281	ORPHA:79244
1737	DLAT	HP:0012043	Pendular nystagmus	1/2	OMIM:245348
1737	DLAT	HP:0025331	Upgaze palsy	HP:0040282	ORPHA:79244
1737	DLAT	HP:0025335	Delayed ability to stand	HP:0040282	ORPHA:79244
1737	DLAT	HP:0001348	Brisk reflexes	1/2	OMIM:245348
1737	DLAT	HP:0001347	Hyperreflexia	-	OMIM:245348
1737	DLAT	HP:0001332	Dystonia	1/2	OMIM:245348
1737	DLAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:245348
1737	DLAT	HP:0001319	Neonatal hypotonia	-	OMIM:245348
1737	DLAT	HP:0031139	Frog-leg posture	HP:0040282	ORPHA:79244
1737	DLAT	HP:0100503	Decreased circulating vitamin B1 concentration	HP:0040281	ORPHA:79244
1737	DLAT	HP:0003487	Babinski sign	HP:0040282	ORPHA:79244
1737	DLAT	HP:0002136	Broad-based gait	HP:0040282	ORPHA:79244
1737	DLAT	HP:0002180	Neurodegeneration	HP:0040282	ORPHA:79244
1737	DLAT	HP:0002194	Delayed gross motor development	-	OMIM:245348
1737	DLAT	HP:0002268	Paroxysmal dystonia	1/2	OMIM:245348
1737	DLAT	HP:0002268	Paroxysmal dystonia	HP:0040282	ORPHA:79244
1737	DLAT	HP:0003593	Infantile onset	2/2	OMIM:245348
1737	DLAT	HP:0011968	Feeding difficulties	1/2	OMIM:245348
1737	DLAT	HP:0020045	Esodeviation	1/2	OMIM:245348
1737	DLAT	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:79244
1737	DLAT	HP:0002307	Drooling	2/2	OMIM:245348
1737	DLAT	HP:0000639	Nystagmus	1/2	OMIM:245348
1737	DLAT	HP:0000657	Oculomotor apraxia	1/2	OMIM:245348
1737	DLAT	HP:0005656	Positional foot deformity	HP:0040282	ORPHA:79244
1737	DLAT	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:79244
1737	DLAT	HP:0031960	Arm dystonia	HP:0040282	ORPHA:79244
1737	DLAT	HP:0006961	Jerky head movements	1/2	OMIM:245348
1737	DLAT	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:79244
1737	DLAT	HP:0000739	Anxiety	HP:0040283	ORPHA:79244
1737	DLAT	HP:0000726	Dementia	HP:0040283	ORPHA:79244
1737	DLAT	HP:0000708	Atypical behavior	HP:0040282	ORPHA:79244
1737	DLAT	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:79244
1737	DLAT	HP:0003128	Lactic acidosis	-	OMIM:245348
1737	DLAT	HP:0000252	Microcephaly	-	OMIM:245348
1737	DLAT	HP:0000252	Microcephaly	HP:0040283	ORPHA:79244
1737	DLAT	HP:0011098	Speech apraxia	HP:0040283	ORPHA:79244
1737	DLAT	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:79244
1737	DLAT	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	-	OMIM:245348
1737	DLAT	HP:0032988	Persistent head lag	1/2	OMIM:245348
1737	DLAT	HP:0007994	Peripheral visual field loss	HP:0040283	ORPHA:79244
1737	DLAT	HP:0000486	Strabismus	HP:0040283	ORPHA:79244
1737	DLAT	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:79244
1737	DLAT	HP:0000508	Ptosis	1/2	OMIM:245348
1737	DLAT	HP:0000546	Retinal degeneration	HP:0040282	ORPHA:79244
1738	DLD	HP:0002480	Hepatic encephalopathy	HP:0040282	ORPHA:2394
1738	DLD	HP:0010913	Hyperisoleucinemia	HP:0040283	ORPHA:2394
1738	DLD	HP:0500191	Increased CSF leucine concentration	1/1	OMIM:246900
1738	DLD	HP:0500193	Increased CSF isoleucine concentration	1/1	OMIM:246900
1738	DLD	HP:0500187	Increased CSF valine concentration	1/1	OMIM:246900
1738	DLD	HP:0001298	Encephalopathy	-	OMIM:246900
1738	DLD	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:2394
1738	DLD	HP:0001254	Lethargy	HP:0040282	ORPHA:2394
1738	DLD	HP:0001254	Lethargy	-	OMIM:246900
1738	DLD	HP:0001250	Seizure	HP:0040282	ORPHA:2394
1738	DLD	HP:0001250	Seizure	-	OMIM:246900
1738	DLD	HP:0001252	Hypotonia	1/1	OMIM:246900
1738	DLD	HP:0001251	Ataxia	HP:0040283	ORPHA:2394
1738	DLD	HP:0001251	Ataxia	-	OMIM:246900
1738	DLD	HP:0001263	Global developmental delay	HP:0040281	OMIM:246900
1738	DLD	HP:0001257	Spasticity	HP:0040282	ORPHA:2394
1738	DLD	HP:0003819	Death in childhood	1/1	OMIM:246900
1738	DLD	HP:0001399	Hepatic failure	HP:0040283	ORPHA:2394
1738	DLD	HP:0001332	Dystonia	1/1	OMIM:246900
1738	DLD	HP:0000007	Autosomal recessive inheritance	-	OMIM:246900
1738	DLD	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:2394
1738	DLD	HP:0001410	Decreased liver function	HP:0040283	OMIM:246900
1738	DLD	HP:0002013	Vomiting	HP:0040281	ORPHA:2394
1738	DLD	HP:0003394	Muscle spasm	HP:0040283	ORPHA:2394
1738	DLD	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:2394
1738	DLD	HP:0003593	Infantile onset	1/1	OMIM:246900
1738	DLD	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:2394
1738	DLD	HP:0002240	Hepatomegaly	HP:0040283	OMIM:246900
1738	DLD	HP:0003542	Increased circulating pyruvate concentration	1/1	OMIM:246900
1738	DLD	HP:0100724	Hypercoagulability	HP:0040282	ORPHA:2394
1738	DLD	HP:0008344	Elevated circulating branched chain amino acid concentration	HP:0040282	ORPHA:2394
1738	DLD	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2394
1738	DLD	HP:0011968	Feeding difficulties	-	OMIM:246900
1738	DLD	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:2394
1738	DLD	HP:0001943	Hypoglycemia	-	OMIM:246900
1738	DLD	HP:0001942	Metabolic acidosis	-	OMIM:246900
1738	DLD	HP:0001993	Ketoacidosis	1/1	OMIM:246900
1738	DLD	HP:0001987	Hyperammonemia	HP:0040283	ORPHA:2394
1738	DLD	HP:0000708	Atypical behavior	HP:0040283	ORPHA:2394
1738	DLD	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:2394
1738	DLD	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2394
1738	DLD	HP:0003128	Lactic acidosis	-	OMIM:246900
1738	DLD	HP:0003234	Decreased circulating carnitine concentration	HP:0040283	ORPHA:2394
1738	DLD	HP:0030872	Abnormal cardiac ventricular function	HP:0040283	ORPHA:2394
1738	DLD	HP:0000252	Microcephaly	HP:0040283	ORPHA:2394
1738	DLD	HP:0000252	Microcephaly	-	OMIM:246900
1738	DLD	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2394
1738	DLD	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:2394
1738	DLD	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:246900
1738	DLD	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:246900
1738	DLD	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:2394
1738	DLD	HP:0012402	Increased urine alpha-ketoglutarate concentration	HP:0040282	ORPHA:2394
1739	DLG1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199306
1739	DLG1	HP:0000175	Cleft palate	HP:0040282	ORPHA:199306
1739	DLG1	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:199306
1739	DLG1	HP:0006292	Abnormality of dental eruption	HP:0040281	ORPHA:199306
1739	DLG1	HP:0002033	Poor suck	HP:0040282	ORPHA:199306
1739	DLG1	HP:0200153	Agenesis of lateral incisor	HP:0040283	ORPHA:199306
1739	DLG1	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:199306
1739	DLG1	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:199306
1739	DLG1	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:199306
1739	DLG1	HP:0004395	Malnutrition	HP:0040283	ORPHA:199306
1739	DLG1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:199306
1739	DLG1	HP:0100337	Bilateral cleft palate	HP:0040283	ORPHA:199306
1739	DLG1	HP:0100334	Unilateral cleft palate	HP:0040282	ORPHA:199306
1739	DLG1	HP:0010294	Palate fistula	HP:0040283	ORPHA:199306
1739	DLG1	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:199306
1739	DLG1	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:199306
1739	DLG1	HP:0011044	Abnormal number of permanent teeth	HP:0040283	ORPHA:199306
1739	DLG1	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:199306
1739	DLG1	HP:0000327	Hypoplasia of the maxilla	HP:0040284	ORPHA:199306
1739	DLG1	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:199306
1739	DLG1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:199306
1741	DLG3	HP:0001270	Motor delay	6/6	OMIM:300850
1741	DLG3	HP:0001250	Seizure	1/8	OMIM:300850
1741	DLG3	HP:0001252	Hypotonia	3/8	OMIM:300850
1741	DLG3	HP:0001249	Intellectual disability	18/18	OMIM:300850
1741	DLG3	HP:0001263	Global developmental delay	-	OMIM:300850
1741	DLG3	HP:0000193	Bifid uvula	1/8	OMIM:300850
1741	DLG3	HP:0001419	X-linked recessive inheritance	-	OMIM:300850
1741	DLG3	HP:0001417	X-linked inheritance	14/14	OMIM:300850
1741	DLG3	HP:0007018	Attention deficit hyperactivity disorder	3/6	OMIM:300850
1741	DLG3	HP:0000805	Enuresis	4/8	OMIM:300850
1741	DLG3	HP:0000750	Delayed speech and language development	7/7	OMIM:300850
1741	DLG3	HP:0000774	Narrow chest	3/8	OMIM:300850
1741	DLG3	HP:0000272	Malar flattening	3/8	OMIM:300850
1741	DLG3	HP:0000218	High palate	3/8	OMIM:300850
1741	DLG3	HP:0000486	Strabismus	3/8	OMIM:300850
1741	DLG3	HP:0000582	Upslanted palpebral fissure	3/8	OMIM:300850
1742	DLG4	HP:0001166	Arachnodactyly	-	OMIM:618793
1742	DLG4	HP:0001250	Seizure	1/3	OMIM:618793
1742	DLG4	HP:0001249	Intellectual disability	3/3	OMIM:618793
1742	DLG4	HP:0001382	Joint hypermobility	1/3	OMIM:618793
1742	DLG4	HP:0000006	Autosomal dominant inheritance	-	OMIM:618793
1742	DLG4	HP:0002650	Scoliosis	3/3	OMIM:618793
1742	DLG4	HP:0003593	Infantile onset	-	OMIM:618793
1742	DLG4	HP:0001065	Striae distensae	1/3	OMIM:618793
1742	DLG4	HP:0006855	Cerebellar vermis atrophy	1/3	OMIM:618793
1742	DLG4	HP:0000729	Autistic behavior	1/3	OMIM:618793
1742	DLG4	HP:0012771	Increased arm span	1/3	OMIM:618793
1742	DLG4	HP:0001519	Disproportionate tall stature	1/3	OMIM:618793
1742	DLG4	HP:0000486	Strabismus	2/3	OMIM:618793
1742	DLG4	HP:0001763	Pes planus	1/3	OMIM:618793
1743	DLST	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:29072
1743	DLST	HP:0025269	Panic attack	HP:0040283	ORPHA:29072
1743	DLST	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:29072
1743	DLST	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:29072
1743	DLST	HP:0003829	Typified by incomplete penetrance	-	OMIM:618475
1743	DLST	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:29072
1743	DLST	HP:0000093	Proteinuria	HP:0040282	ORPHA:29072
1743	DLST	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:29072
1743	DLST	HP:0002668	Paraganglioma	6/8	OMIM:618475
1743	DLST	HP:0002668	Paraganglioma	HP:0040281	ORPHA:29072
1743	DLST	HP:0001337	Tremor	HP:0040283	ORPHA:29072
1743	DLST	HP:0000006	Autosomal dominant inheritance	-	OMIM:618475
1743	DLST	HP:0002666	Pheochromocytoma	3/8	OMIM:618475
1743	DLST	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:29072
1743	DLST	HP:0031284	Flushing	HP:0040282	ORPHA:29072
1743	DLST	HP:0002018	Nausea	HP:0040282	ORPHA:29072
1743	DLST	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:29072
1743	DLST	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:29072
1743	DLST	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:29072
1743	DLST	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:29072
1743	DLST	HP:0003581	Adult onset	8/8	OMIM:618475
1743	DLST	HP:0003528	Elevated circulating calcitonin concentration	HP:0040283	ORPHA:29072
1743	DLST	HP:0009711	Retinal capillary hemangioma	HP:0040283	ORPHA:29072
1743	DLST	HP:0100749	Chest pain	HP:0040282	ORPHA:29072
1743	DLST	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:29072
1743	DLST	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:29072
1743	DLST	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:29072
1743	DLST	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:29072
1743	DLST	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:29072
1743	DLST	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:29072
1743	DLST	HP:0001962	Palpitations	HP:0040282	ORPHA:29072
1743	DLST	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:29072
1743	DLST	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:29072
1743	DLST	HP:0000790	Hematuria	HP:0040283	ORPHA:29072
1743	DLST	HP:0000980	Pallor	HP:0040283	ORPHA:29072
1743	DLST	HP:0012222	Arachnoid hemangiomatosis	HP:0040283	ORPHA:29072
1743	DLST	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:29072
1743	DLST	HP:0012378	Fatigue	HP:0040282	ORPHA:29072
1743	DLST	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:29072
1743	DLST	HP:0001618	Dysphonia	HP:0040282	ORPHA:29072
1743	DLST	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:29072
1743	DLST	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:29072
1743	DLST	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:29072
1743	DLST	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:29072
1743	DLST	HP:0000526	Aniridia	HP:0040284	ORPHA:29072
1743	DLST	HP:0001824	Weight loss	HP:0040282	ORPHA:29072
1747	DLX3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1747	DLX3	HP:0001293	Cranial nerve compression	-	OMIM:131300
1747	DLX3	HP:0001252	Hypotonia	2/7	OMIM:615777
1747	DLX3	HP:0001249	Intellectual disability	5/7	OMIM:615777
1747	DLX3	HP:0001263	Global developmental delay	-	OMIM:615777
1747	DLX3	HP:0002515	Waddling gait	54/102	OMIM:131300
1747	DLX3	HP:0001382	Joint hypermobility	-	OMIM:615777
1747	DLX3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1747	DLX3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1747	DLX3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1747	DLX3	HP:0001324	Muscle weakness	40/96	OMIM:131300
1747	DLX3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1747	DLX3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1747	DLX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:190320
1747	DLX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1747	DLX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:104510
1747	DLX3	HP:0002650	Scoliosis	12/14	OMIM:131300
1747	DLX3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1747	DLX3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1747	DLX3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1747	DLX3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1747	DLX3	HP:0000175	Cleft palate	2/7	OMIM:615777
1747	DLX3	HP:0006297	Enamel hypoplasia	11/11	OMIM:104510
1747	DLX3	HP:0006285	Enamel hypomineralization	HP:0040282	ORPHA:3352
1747	DLX3	HP:0006286	Yellow-brown discoloration of the teeth	11/11	OMIM:104510
1747	DLX3	HP:0002007	Frontal bossing	-	OMIM:190320
1747	DLX3	HP:0002007	Frontal bossing	HP:0040282	ORPHA:3352
1747	DLX3	HP:0003388	Easy fatigability	36/76	OMIM:131300
1747	DLX3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1747	DLX3	HP:0009722	Dental enamel pits	HP:0040282	ORPHA:3352
1747	DLX3	HP:0003510	Severe short stature	7/7	OMIM:615777
1747	DLX3	HP:0002315	Headache	-	OMIM:131300
1747	DLX3	HP:0004976	Knee dislocation	6/7	OMIM:615777
1747	DLX3	HP:0009803	Short phalanx of finger	-	OMIM:615777
1747	DLX3	HP:0009763	Limb pain	63/92	OMIM:131300
1747	DLX3	HP:0003621	Juvenile onset	-	OMIM:131300
1747	DLX3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1747	DLX3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1747	DLX3	HP:6001056	Out-toeing	-	OMIM:131300
1747	DLX3	HP:0000651	Diplopia	-	OMIM:131300
1747	DLX3	HP:0001956	Truncal obesity	2/7	OMIM:615777
1747	DLX3	HP:0001903	Anemia	HP:0040283	OMIM:131300
1747	DLX3	HP:0010049	Short metacarpal	-	OMIM:615777
1747	DLX3	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:3352
1747	DLX3	HP:0000679	Taurodontia	-	OMIM:190320
1747	DLX3	HP:0000679	Taurodontia	HP:0040282	ORPHA:3352
1747	DLX3	HP:0000679	Taurodontia	1/11	OMIM:104510
1747	DLX3	HP:0000678	Dental crowding	-	OMIM:615777
1747	DLX3	HP:0000691	Microdontia	-	OMIM:190320
1747	DLX3	HP:0000691	Microdontia	HP:0040282	ORPHA:3352
1747	DLX3	HP:0000687	Widely spaced teeth	-	OMIM:190320
1747	DLX3	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:3352
1747	DLX3	HP:0000670	Carious teeth	-	OMIM:131300
1747	DLX3	HP:0011304	Broad thumb	2/7	OMIM:615777
1747	DLX3	HP:0000668	Hypodontia	-	OMIM:615777
1747	DLX3	HP:0000664	Synophrys	-	OMIM:615777
1747	DLX3	HP:0004396	Poor appetite	-	OMIM:131300
1747	DLX3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1747	DLX3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1747	DLX3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1747	DLX3	HP:0003026	Short long bone	7/7	OMIM:615777
1747	DLX3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1747	DLX3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1747	DLX3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1747	DLX3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1747	DLX3	HP:0000750	Delayed speech and language development	-	OMIM:615777
1747	DLX3	HP:0000705	Amelogenesis imperfecta	-	OMIM:104510
1747	DLX3	HP:0011461	Fetal onset	7/7	OMIM:615777
1747	DLX3	HP:0000774	Narrow chest	2/7	OMIM:615777
1747	DLX3	HP:0030758	Periapical tooth abscess	HP:0040282	ORPHA:3352
1747	DLX3	HP:0000926	Platyspondyly	1/7	OMIM:615777
1747	DLX3	HP:0003180	Flat acetabular roof	-	OMIM:615777
1747	DLX3	HP:0004482	Relative macrocephaly	-	OMIM:615777
1747	DLX3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1747	DLX3	HP:0000823	Delayed puberty	-	OMIM:131300
1747	DLX3	HP:0040019	Finger clinodactyly	HP:0040283	ORPHA:3352
1747	DLX3	HP:0000894	Short clavicles	-	OMIM:615777
1747	DLX3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1747	DLX3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1747	DLX3	HP:0000286	Epicanthus	1/7	OMIM:615777
1747	DLX3	HP:0000280	Coarse facial features	2/7	OMIM:615777
1747	DLX3	HP:0000264	Abnormal mastoid morphology	HP:0040282	ORPHA:3352
1747	DLX3	HP:0000264	Abnormal mastoid morphology	-	OMIM:190320
1747	DLX3	HP:0001595	Abnormal hair morphology	-	OMIM:190320
1747	DLX3	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:3352
1747	DLX3	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:3352
1747	DLX3	HP:0000268	Dolichocephaly	-	OMIM:190320
1747	DLX3	HP:0002827	Hip dislocation	3/7	OMIM:615777
1747	DLX3	HP:0000252	Microcephaly	-	OMIM:615777
1747	DLX3	HP:0002857	Genu valgum	-	OMIM:131300
1747	DLX3	HP:0001533	Slender build	-	OMIM:131300
1747	DLX3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1747	DLX3	HP:0007807	Optic nerve compression	-	OMIM:131300
1747	DLX3	HP:0012368	Flat face	7/7	OMIM:615777
1747	DLX3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1747	DLX3	HP:0006485	Agenesis of incisor	HP:0040283	ORPHA:3352
1747	DLX3	HP:0000365	Hearing impairment	10/67	OMIM:131300
1747	DLX3	HP:0000343	Long philtrum	1/7	OMIM:615777
1747	DLX3	HP:0011001	Increased bone mineral density	-	OMIM:190320
1747	DLX3	HP:0011001	Increased bone mineral density	-	OMIM:131300
1747	DLX3	HP:0011001	Increased bone mineral density	HP:0040282	ORPHA:3352
1747	DLX3	HP:0000311	Round face	2/7	OMIM:615777
1747	DLX3	HP:0002970	Genu varum	-	OMIM:615777
1747	DLX3	HP:0000303	Mandibular prognathia	-	OMIM:131300
1747	DLX3	HP:0030312	Obliteration of the calvarial diploe	HP:0040282	ORPHA:3352
1747	DLX3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1747	DLX3	HP:0000470	Short neck	1/7	OMIM:615777
1747	DLX3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1747	DLX3	HP:0001763	Pes planus	1/7	OMIM:615777
1747	DLX3	HP:0001840	Metatarsus adductus	-	OMIM:615777
1747	DLX3	HP:0000520	Proptosis	2/4	OMIM:131300
1747	DLX3	HP:0000520	Proptosis	7/7	OMIM:615777
1747	DLX3	HP:0001808	Fragile nails	-	OMIM:190320
1747	DLX3	HP:0001808	Fragile nails	HP:0040282	ORPHA:3352
1747	DLX3	HP:0000592	Blue sclerae	2/7	OMIM:615777
1747	DLX3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1747	DLX3	HP:0012514	Lower limb pain	4/4	OMIM:131300
1748	DLX4	HP:0009890	High anterior hairline	1/2	OMIM:616788
1748	DLX4	HP:0000023	Inguinal hernia	1/2	OMIM:616788
1748	DLX4	HP:0000028	Cryptorchidism	1/1	OMIM:616788
1748	DLX4	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199306
1748	DLX4	HP:0000006	Autosomal dominant inheritance	-	OMIM:616788
1748	DLX4	HP:0000175	Cleft palate	HP:0040282	ORPHA:199306
1748	DLX4	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:199306
1748	DLX4	HP:0007651	Ectropion of lower eyelids	2/2	OMIM:616788
1748	DLX4	HP:0006292	Abnormality of dental eruption	HP:0040281	ORPHA:199306
1748	DLX4	HP:0002033	Poor suck	HP:0040282	ORPHA:199306
1748	DLX4	HP:0011800	Midface retrusion	1/2	OMIM:616788
1748	DLX4	HP:0009743	Distichiasis	0/2	OMIM:616788
1748	DLX4	HP:0200153	Agenesis of lateral incisor	1/2	OMIM:616788
1748	DLX4	HP:0200153	Agenesis of lateral incisor	HP:0040283	ORPHA:199306
1748	DLX4	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:199306
1748	DLX4	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:199306
1748	DLX4	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:199306
1748	DLX4	HP:0000653	Sparse eyelashes	1/2	OMIM:616788
1748	DLX4	HP:0004395	Malnutrition	HP:0040283	ORPHA:199306
1748	DLX4	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:199306
1748	DLX4	HP:0012905	Euryblepharon	2/2	OMIM:616788
1748	DLX4	HP:0100336	Bilateral cleft lip	2/2	OMIM:616788
1748	DLX4	HP:0100337	Bilateral cleft palate	HP:0040283	ORPHA:199306
1748	DLX4	HP:0100337	Bilateral cleft palate	2/2	OMIM:616788
1748	DLX4	HP:0100334	Unilateral cleft palate	HP:0040282	ORPHA:199306
1748	DLX4	HP:0010294	Palate fistula	1/2	OMIM:616788
1748	DLX4	HP:0010294	Palate fistula	HP:0040283	ORPHA:199306
1748	DLX4	HP:0045075	Sparse eyebrow	2/2	OMIM:616788
1748	DLX4	HP:0100271	Hyponasal speech	1/2	OMIM:616788
1748	DLX4	HP:0000954	Single transverse palmar crease	1/2	OMIM:616788
1748	DLX4	HP:0000286	Epicanthus	1/2	OMIM:616788
1748	DLX4	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:199306
1748	DLX4	HP:0030001	Lagophthalmos	2/2	OMIM:616788
1748	DLX4	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:199306
1748	DLX4	HP:0011044	Abnormal number of permanent teeth	HP:0040283	ORPHA:199306
1748	DLX4	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:199306
1748	DLX4	HP:0000369	Low-set ears	1/2	OMIM:616788
1748	DLX4	HP:0000316	Hypertelorism	1/2	OMIM:616788
1748	DLX4	HP:0000327	Hypoplasia of the maxilla	HP:0040284	ORPHA:199306
1748	DLX4	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:199306
1748	DLX4	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:199306
1748	DLX4	HP:0000414	Bulbous nose	1/2	OMIM:616788
1748	DLX4	HP:0000411	Protruding ear	1/2	OMIM:616788
1748	DLX4	HP:0000582	Upslanted palpebral fissure	1/2	OMIM:616788
1749	DLX5	HP:0001171	Split hand	HP:0040283	ORPHA:2440
1749	DLX5	HP:0001171	Split hand	HP:0040281	OMIM:183600
1749	DLX5	HP:0001171	Split hand	2/2	OMIM:220600
1749	DLX5	HP:0001182	Tapered finger	1/2	OMIM:220600
1749	DLX5	HP:0001159	Syndactyly	HP:0040282	OMIM:183600
1749	DLX5	HP:0001199	Triphalangeal thumb	-	OMIM:183600
1749	DLX5	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1749	DLX5	HP:0001293	Cranial nerve compression	-	OMIM:131300
1749	DLX5	HP:0001252	Hypotonia	2/7	OMIM:615777
1749	DLX5	HP:0001249	Intellectual disability	33%	OMIM:183600
1749	DLX5	HP:0001249	Intellectual disability	5/7	OMIM:615777
1749	DLX5	HP:0001263	Global developmental delay	-	OMIM:615777
1749	DLX5	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:2440
1749	DLX5	HP:0002515	Waddling gait	54/102	OMIM:131300
1749	DLX5	HP:0003828	Variable expressivity	-	OMIM:183600
1749	DLX5	HP:0003829	Typified by incomplete penetrance	-	OMIM:183600
1749	DLX5	HP:0001382	Joint hypermobility	-	OMIM:615777
1749	DLX5	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1749	DLX5	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1749	DLX5	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1749	DLX5	HP:0001324	Muscle weakness	40/96	OMIM:131300
1749	DLX5	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1749	DLX5	HP:0000007	Autosomal recessive inheritance	-	OMIM:220600
1749	DLX5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1749	DLX5	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1749	DLX5	HP:0000006	Autosomal dominant inheritance	-	OMIM:183600
1749	DLX5	HP:0002650	Scoliosis	1/2	OMIM:220600
1749	DLX5	HP:0002650	Scoliosis	12/14	OMIM:131300
1749	DLX5	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1749	DLX5	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1749	DLX5	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1749	DLX5	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1749	DLX5	HP:0012165	Oligodactyly	HP:0040281	ORPHA:2440
1749	DLX5	HP:0000175	Cleft palate	HP:0040282	OMIM:183600
1749	DLX5	HP:0000175	Cleft palate	2/7	OMIM:615777
1749	DLX5	HP:0002007	Frontal bossing	1/2	OMIM:220600
1749	DLX5	HP:0003388	Easy fatigability	36/76	OMIM:131300
1749	DLX5	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1749	DLX5	HP:0003577	Congenital onset	2/2	OMIM:220600
1749	DLX5	HP:0003510	Severe short stature	7/7	OMIM:615777
1749	DLX5	HP:0003510	Severe short stature	1/2	OMIM:220600
1749	DLX5	HP:0002315	Headache	-	OMIM:131300
1749	DLX5	HP:0004976	Knee dislocation	6/7	OMIM:615777
1749	DLX5	HP:0009803	Short phalanx of finger	-	OMIM:615777
1749	DLX5	HP:0009763	Limb pain	63/92	OMIM:131300
1749	DLX5	HP:0003621	Juvenile onset	-	OMIM:131300
1749	DLX5	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1749	DLX5	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1749	DLX5	HP:6001056	Out-toeing	-	OMIM:131300
1749	DLX5	HP:0000651	Diplopia	-	OMIM:131300
1749	DLX5	HP:0001956	Truncal obesity	2/7	OMIM:615777
1749	DLX5	HP:0001903	Anemia	HP:0040283	OMIM:131300
1749	DLX5	HP:0010049	Short metacarpal	-	OMIM:615777
1749	DLX5	HP:0010055	Broad hallux	-	OMIM:183600
1749	DLX5	HP:0000678	Dental crowding	-	OMIM:615777
1749	DLX5	HP:0000670	Carious teeth	-	OMIM:131300
1749	DLX5	HP:0011304	Broad thumb	2/7	OMIM:615777
1749	DLX5	HP:0000668	Hypodontia	-	OMIM:615777
1749	DLX5	HP:0000664	Synophrys	-	OMIM:615777
1749	DLX5	HP:0030680	Abnormal cardiovascular system morphology	13%	OMIM:183600
1749	DLX5	HP:0004396	Poor appetite	-	OMIM:131300
1749	DLX5	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1749	DLX5	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1749	DLX5	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1749	DLX5	HP:0003026	Short long bone	7/7	OMIM:615777
1749	DLX5	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1749	DLX5	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1749	DLX5	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1749	DLX5	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1749	DLX5	HP:0000750	Delayed speech and language development	-	OMIM:615777
1749	DLX5	HP:0011461	Fetal onset	7/7	OMIM:615777
1749	DLX5	HP:0000774	Narrow chest	2/7	OMIM:615777
1749	DLX5	HP:0000926	Platyspondyly	1/7	OMIM:615777
1749	DLX5	HP:0003180	Flat acetabular roof	-	OMIM:615777
1749	DLX5	HP:0004482	Relative macrocephaly	-	OMIM:615777
1749	DLX5	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1749	DLX5	HP:0000823	Delayed puberty	-	OMIM:131300
1749	DLX5	HP:0000894	Short clavicles	-	OMIM:615777
1749	DLX5	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1749	DLX5	HP:0100257	Ectrodactyly	-	OMIM:183600
1749	DLX5	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1749	DLX5	HP:0009380	Finger aplasia	HP:0040282	OMIM:183600
1749	DLX5	HP:0000286	Epicanthus	1/7	OMIM:615777
1749	DLX5	HP:0000280	Coarse facial features	2/7	OMIM:615777
1749	DLX5	HP:0002827	Hip dislocation	3/7	OMIM:615777
1749	DLX5	HP:0030084	Clinodactyly	-	OMIM:183600
1749	DLX5	HP:0000252	Microcephaly	-	OMIM:615777
1749	DLX5	HP:0002857	Genu valgum	-	OMIM:131300
1749	DLX5	HP:0001533	Slender build	-	OMIM:131300
1749	DLX5	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1749	DLX5	HP:0007807	Optic nerve compression	-	OMIM:131300
1749	DLX5	HP:0012368	Flat face	7/7	OMIM:615777
1749	DLX5	HP:0000377	Abnormal pinna morphology	35%	OMIM:183600
1749	DLX5	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1749	DLX5	HP:0000365	Hearing impairment	35%	OMIM:183600
1749	DLX5	HP:0000365	Hearing impairment	10/67	OMIM:131300
1749	DLX5	HP:0000343	Long philtrum	1/7	OMIM:615777
1749	DLX5	HP:0011001	Increased bone mineral density	-	OMIM:131300
1749	DLX5	HP:0000311	Round face	2/7	OMIM:615777
1749	DLX5	HP:0002970	Genu varum	-	OMIM:615777
1749	DLX5	HP:0000303	Mandibular prognathia	-	OMIM:131300
1749	DLX5	HP:0004058	Hand monodactyly	HP:0040282	ORPHA:2440
1749	DLX5	HP:0004050	Absent hand	HP:0040283	ORPHA:2440
1749	DLX5	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:220600
1749	DLX5	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2440
1749	DLX5	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1749	DLX5	HP:0000470	Short neck	1/7	OMIM:615777
1749	DLX5	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1749	DLX5	HP:0001763	Pes planus	1/7	OMIM:615777
1749	DLX5	HP:0001849	Foot oligodactyly	HP:0040282	OMIM:183600
1749	DLX5	HP:0001840	Metatarsus adductus	-	OMIM:615777
1749	DLX5	HP:0000526	Aniridia	HP:0040283	ORPHA:2440
1749	DLX5	HP:0000520	Proptosis	2/4	OMIM:131300
1749	DLX5	HP:0000520	Proptosis	7/7	OMIM:615777
1749	DLX5	HP:0001839	Split foot	2/2	OMIM:220600
1749	DLX5	HP:0001839	Split foot	HP:0040282	ORPHA:2440
1749	DLX5	HP:0001839	Split foot	HP:0040281	OMIM:183600
1749	DLX5	HP:0000592	Blue sclerae	2/7	OMIM:615777
1749	DLX5	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1749	DLX5	HP:0012514	Lower limb pain	4/4	OMIM:131300
1750	DLX6	HP:0001171	Split hand	HP:0040283	ORPHA:2440
1750	DLX6	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1750	DLX6	HP:0001293	Cranial nerve compression	-	OMIM:131300
1750	DLX6	HP:0001252	Hypotonia	2/7	OMIM:615777
1750	DLX6	HP:0001249	Intellectual disability	5/7	OMIM:615777
1750	DLX6	HP:0001263	Global developmental delay	-	OMIM:615777
1750	DLX6	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:2440
1750	DLX6	HP:0002515	Waddling gait	54/102	OMIM:131300
1750	DLX6	HP:0001382	Joint hypermobility	-	OMIM:615777
1750	DLX6	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1750	DLX6	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1750	DLX6	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1750	DLX6	HP:0001324	Muscle weakness	40/96	OMIM:131300
1750	DLX6	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1750	DLX6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1750	DLX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1750	DLX6	HP:0002650	Scoliosis	12/14	OMIM:131300
1750	DLX6	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1750	DLX6	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1750	DLX6	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1750	DLX6	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1750	DLX6	HP:0012165	Oligodactyly	HP:0040281	ORPHA:2440
1750	DLX6	HP:0000175	Cleft palate	2/7	OMIM:615777
1750	DLX6	HP:0003388	Easy fatigability	36/76	OMIM:131300
1750	DLX6	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1750	DLX6	HP:0003510	Severe short stature	7/7	OMIM:615777
1750	DLX6	HP:0002315	Headache	-	OMIM:131300
1750	DLX6	HP:0004976	Knee dislocation	6/7	OMIM:615777
1750	DLX6	HP:0009803	Short phalanx of finger	-	OMIM:615777
1750	DLX6	HP:0009763	Limb pain	63/92	OMIM:131300
1750	DLX6	HP:0003621	Juvenile onset	-	OMIM:131300
1750	DLX6	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1750	DLX6	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1750	DLX6	HP:6001056	Out-toeing	-	OMIM:131300
1750	DLX6	HP:0000651	Diplopia	-	OMIM:131300
1750	DLX6	HP:0001956	Truncal obesity	2/7	OMIM:615777
1750	DLX6	HP:0001903	Anemia	HP:0040283	OMIM:131300
1750	DLX6	HP:0010049	Short metacarpal	-	OMIM:615777
1750	DLX6	HP:0000678	Dental crowding	-	OMIM:615777
1750	DLX6	HP:0000670	Carious teeth	-	OMIM:131300
1750	DLX6	HP:0011304	Broad thumb	2/7	OMIM:615777
1750	DLX6	HP:0000668	Hypodontia	-	OMIM:615777
1750	DLX6	HP:0000664	Synophrys	-	OMIM:615777
1750	DLX6	HP:0004396	Poor appetite	-	OMIM:131300
1750	DLX6	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1750	DLX6	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1750	DLX6	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1750	DLX6	HP:0003026	Short long bone	7/7	OMIM:615777
1750	DLX6	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1750	DLX6	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1750	DLX6	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1750	DLX6	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1750	DLX6	HP:0000750	Delayed speech and language development	-	OMIM:615777
1750	DLX6	HP:0011461	Fetal onset	7/7	OMIM:615777
1750	DLX6	HP:0000774	Narrow chest	2/7	OMIM:615777
1750	DLX6	HP:0000926	Platyspondyly	1/7	OMIM:615777
1750	DLX6	HP:0003180	Flat acetabular roof	-	OMIM:615777
1750	DLX6	HP:0004482	Relative macrocephaly	-	OMIM:615777
1750	DLX6	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1750	DLX6	HP:0000823	Delayed puberty	-	OMIM:131300
1750	DLX6	HP:0000894	Short clavicles	-	OMIM:615777
1750	DLX6	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1750	DLX6	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1750	DLX6	HP:0000286	Epicanthus	1/7	OMIM:615777
1750	DLX6	HP:0000280	Coarse facial features	2/7	OMIM:615777
1750	DLX6	HP:0002827	Hip dislocation	3/7	OMIM:615777
1750	DLX6	HP:0000252	Microcephaly	-	OMIM:615777
1750	DLX6	HP:0002857	Genu valgum	-	OMIM:131300
1750	DLX6	HP:0001533	Slender build	-	OMIM:131300
1750	DLX6	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1750	DLX6	HP:0007807	Optic nerve compression	-	OMIM:131300
1750	DLX6	HP:0012368	Flat face	7/7	OMIM:615777
1750	DLX6	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1750	DLX6	HP:0000365	Hearing impairment	10/67	OMIM:131300
1750	DLX6	HP:0000343	Long philtrum	1/7	OMIM:615777
1750	DLX6	HP:0011001	Increased bone mineral density	-	OMIM:131300
1750	DLX6	HP:0000311	Round face	2/7	OMIM:615777
1750	DLX6	HP:0002970	Genu varum	-	OMIM:615777
1750	DLX6	HP:0000303	Mandibular prognathia	-	OMIM:131300
1750	DLX6	HP:0004058	Hand monodactyly	HP:0040282	ORPHA:2440
1750	DLX6	HP:0004050	Absent hand	HP:0040283	ORPHA:2440
1750	DLX6	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2440
1750	DLX6	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1750	DLX6	HP:0000470	Short neck	1/7	OMIM:615777
1750	DLX6	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1750	DLX6	HP:0001763	Pes planus	1/7	OMIM:615777
1750	DLX6	HP:0001840	Metatarsus adductus	-	OMIM:615777
1750	DLX6	HP:0000526	Aniridia	HP:0040283	ORPHA:2440
1750	DLX6	HP:0000520	Proptosis	2/4	OMIM:131300
1750	DLX6	HP:0000520	Proptosis	7/7	OMIM:615777
1750	DLX6	HP:0001839	Split foot	HP:0040282	ORPHA:2440
1750	DLX6	HP:0000592	Blue sclerae	2/7	OMIM:615777
1750	DLX6	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1750	DLX6	HP:0012514	Lower limb pain	4/4	OMIM:131300
1756	DMD	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
1756	DMD	HP:0003731	Quadriceps muscle weakness	HP:0040283	ORPHA:206546
1756	DMD	HP:0003707	Calf muscle pseudohypertrophy	-	OMIM:300376
1756	DMD	HP:0003707	Calf muscle pseudohypertrophy	-	OMIM:310200
1756	DMD	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:98896
1756	DMD	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:206546
1756	DMD	HP:0003710	Exercise-induced muscle cramps	HP:0040283	ORPHA:206546
1756	DMD	HP:0032232	Increased circulating creatine kinase MB isoform	4/4	OMIM:302045
1756	DMD	HP:0001270	Motor delay	HP:0040281	ORPHA:98896
1756	DMD	HP:0001288	Gait disturbance	HP:0040281	ORPHA:98895
1756	DMD	HP:0001256	Intellectual disability, mild	-	OMIM:310200
1756	DMD	HP:0001252	Hypotonia	-	OMIM:310200
1756	DMD	HP:0001265	Hyporeflexia	-	OMIM:310200
1756	DMD	HP:0001265	Hyporeflexia	-	OMIM:300376
1756	DMD	HP:0001263	Global developmental delay	HP:0040281	ORPHA:98896
1756	DMD	HP:0002540	Inability to walk	HP:0040283	ORPHA:206546
1756	DMD	HP:0002515	Waddling gait	1/1	OMIM:310200
1756	DMD	HP:0002515	Waddling gait	HP:0040281	ORPHA:98896
1756	DMD	HP:0002527	Falls	HP:0040282	ORPHA:98895
1756	DMD	HP:0002505	Loss of ambulation	1/1	OMIM:310200
1756	DMD	HP:0001371	Flexion contracture	-	OMIM:310200
1756	DMD	HP:0001371	Flexion contracture	HP:0040281	ORPHA:98896
1756	DMD	HP:0012086	Abnormal urinary color	HP:0040281	ORPHA:98895
1756	DMD	HP:0001328	Specific learning disability	HP:0040281	ORPHA:98896
1756	DMD	HP:0001324	Muscle weakness	1/1	OMIM:310200
1756	DMD	HP:0001324	Muscle weakness	HP:0040282	ORPHA:98895
1756	DMD	HP:0001324	Muscle weakness	-	OMIM:300376
1756	DMD	HP:0002650	Scoliosis	-	OMIM:310200
1756	DMD	HP:0002650	Scoliosis	HP:0040281	ORPHA:98896
1756	DMD	HP:0033755	Increased left ventricular end-diastolic volume	4/4	OMIM:302045
1756	DMD	HP:0008981	Calf muscle hypertrophy	1/1	OMIM:310200
1756	DMD	HP:0008981	Calf muscle hypertrophy	HP:0040283	ORPHA:206546
1756	DMD	HP:0008981	Calf muscle hypertrophy	HP:0040281	ORPHA:98896
1756	DMD	HP:0002791	Hypoventilation	-	OMIM:310200
1756	DMD	HP:0001435	Abnormality of the shoulder girdle musculature	HP:0040283	ORPHA:206546
1756	DMD	HP:0001419	X-linked recessive inheritance	-	OMIM:310200
1756	DMD	HP:0001419	X-linked recessive inheritance	-	OMIM:300376
1756	DMD	HP:0001417	X-linked inheritance	-	OMIM:302045
1756	DMD	HP:0002747	Respiratory insufficiency due to muscle weakness	1/1	OMIM:310200
1756	DMD	HP:0003326	Myalgia	HP:0040281	ORPHA:98895
1756	DMD	HP:0003326	Myalgia	-	OMIM:300376
1756	DMD	HP:0003326	Myalgia	HP:0040283	ORPHA:206546
1756	DMD	HP:0003307	Hyperlordosis	-	OMIM:310200
1756	DMD	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:98896
1756	DMD	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:206546
1756	DMD	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:98896
1756	DMD	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:98896
1756	DMD	HP:0002091	Restrictive ventilatory defect	1/1	OMIM:310200
1756	DMD	HP:0003394	Muscle spasm	HP:0040282	ORPHA:98895
1756	DMD	HP:0003394	Muscle spasm	HP:0040283	ORPHA:206546
1756	DMD	HP:0003391	Gowers sign	-	OMIM:310200
1756	DMD	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
1756	DMD	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
1756	DMD	HP:0003409	Distal sensory impairment of all modalities	-	ORPHA:206546
1756	DMD	HP:0002194	Delayed gross motor development	1/1	OMIM:310200
1756	DMD	HP:0003581	Adult onset	-	OMIM:300376
1756	DMD	HP:0003551	Difficulty climbing stairs	1/1	OMIM:310200
1756	DMD	HP:0003551	Difficulty climbing stairs	HP:0040281	ORPHA:98895
1756	DMD	HP:0003546	Exercise intolerance	HP:0040281	ORPHA:98895
1756	DMD	HP:0003560	Muscular dystrophy	-	OMIM:310200
1756	DMD	HP:0003560	Muscular dystrophy	-	OMIM:300376
1756	DMD	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:302045
1756	DMD	HP:0002380	Fasciculations	-	ORPHA:206546
1756	DMD	HP:0003621	Juvenile onset	1/1	OMIM:302045
1756	DMD	HP:0003089	Hamstring contractures	1/1	OMIM:310200
1756	DMD	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:98896
1756	DMD	HP:0011463	Childhood onset	1/1	OMIM:310200
1756	DMD	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
1756	DMD	HP:0003115	Abnormal EKG	-	OMIM:300376
1756	DMD	HP:0003115	Abnormal EKG	-	OMIM:310200
1756	DMD	HP:0003198	Myopathy	HP:0040283	ORPHA:154
1756	DMD	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:310200
1756	DMD	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:98895
1756	DMD	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:98896
1756	DMD	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:206546
1756	DMD	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:300376
1756	DMD	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:98895
1756	DMD	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:98896
1756	DMD	HP:0000969	Edema	HP:0040282	ORPHA:154
1756	DMD	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
1756	DMD	HP:0011675	Arrhythmia	-	OMIM:310200
1756	DMD	HP:0011675	Arrhythmia	-	OMIM:300376
1756	DMD	HP:0002814	Abnormality of the lower limb	HP:0040282	ORPHA:98895
1756	DMD	HP:0030097	Absent muscle dystrophin expression	HP:0040283	ORPHA:206546
1756	DMD	HP:0006380	Knee flexion contracture	1/1	OMIM:310200
1756	DMD	HP:0002878	Respiratory failure	-	OMIM:310200
1756	DMD	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
1756	DMD	HP:0002870	Obstructive sleep apnea	1/1	OMIM:310200
1756	DMD	HP:0030051	Tip-toe gait	1/1	OMIM:310200
1756	DMD	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:98895
1756	DMD	HP:0012378	Fatigue	HP:0040282	ORPHA:154
1756	DMD	HP:0012378	Fatigue	HP:0040282	ORPHA:98895
1756	DMD	HP:0002938	Lumbar hyperlordosis	HP:0040282	ORPHA:206546
1756	DMD	HP:0002942	Thoracic kyphosis	HP:0040283	ORPHA:206546
1756	DMD	HP:0002943	Thoracic scoliosis	HP:0040283	ORPHA:206546
1756	DMD	HP:0002913	Myoglobinuria	HP:0040281	ORPHA:98895
1756	DMD	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:98895
1756	DMD	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
1756	DMD	HP:0001644	Dilated cardiomyopathy	-	OMIM:302045
1756	DMD	HP:0001644	Dilated cardiomyopathy	-	OMIM:310200
1756	DMD	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:206546
1756	DMD	HP:0002987	Elbow flexion contracture	HP:0040284	ORPHA:206546
1756	DMD	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
1756	DMD	HP:0001635	Congestive heart failure	-	OMIM:310200
1756	DMD	HP:0001635	Congestive heart failure	HP:0040284	ORPHA:206546
1756	DMD	HP:0001638	Cardiomyopathy	-	OMIM:310200
1756	DMD	HP:0001638	Cardiomyopathy	HP:0040281	ORPHA:98896
1756	DMD	HP:0001638	Cardiomyopathy	-	OMIM:300376
1756	DMD	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
1756	DMD	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
1756	DMD	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:206546
1756	DMD	HP:0001771	Achilles tendon contracture	1/1	OMIM:310200
1756	DMD	HP:0001763	Pes planus	HP:0040283	ORPHA:98895
1757	SARDH	HP:0002465	Poor speech	HP:0040283	ORPHA:3129
1757	SARDH	HP:0008610	Infantile sensorineural hearing impairment	HP:0040283	ORPHA:3129
1757	SARDH	HP:0010896	Hypersarcosinemia	HP:0040280	ORPHA:3129
1757	SARDH	HP:0010896	Hypersarcosinemia	-	OMIM:268900
1757	SARDH	HP:0010897	Hypersarcosinuria	HP:0040281	ORPHA:3129
1757	SARDH	HP:0001270	Motor delay	HP:0040283	ORPHA:3129
1757	SARDH	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:3129
1757	SARDH	HP:0001251	Ataxia	HP:0040283	ORPHA:3129
1757	SARDH	HP:0001263	Global developmental delay	HP:0040283	ORPHA:3129
1757	SARDH	HP:0000007	Autosomal recessive inheritance	-	OMIM:268900
1757	SARDH	HP:0008947	Floppy infant	HP:0040283	ORPHA:3129
1757	SARDH	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:3129
1757	SARDH	HP:0011727	Peroneal muscle weakness	HP:0040283	ORPHA:3129
1757	SARDH	HP:0010522	Dyslexia	HP:0040283	ORPHA:3129
1757	SARDH	HP:0002273	Tetraparesis	HP:0040283	ORPHA:3129
1757	SARDH	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:3129
1757	SARDH	HP:0002371	Loss of speech	HP:0040283	ORPHA:3129
1757	SARDH	HP:0000648	Optic atrophy	HP:0040283	ORPHA:3129
1757	SARDH	HP:0100022	Abnormality of movement	HP:0040283	ORPHA:3129
1757	SARDH	HP:0000712	Emotional lability	HP:0040283	ORPHA:3129
1757	SARDH	HP:0007875	Congenital blindness	HP:0040283	ORPHA:3129
1757	SARDH	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:3129
1757	SARDH	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:3129
1757	SARDH	HP:0000486	Strabismus	HP:0040283	ORPHA:3129
1758	DMP1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1758	DMP1	HP:0001293	Cranial nerve compression	-	OMIM:131300
1758	DMP1	HP:0001250	Seizure	-	ORPHA:289176
1758	DMP1	HP:0001252	Hypotonia	2/7	OMIM:615777
1758	DMP1	HP:0001249	Intellectual disability	5/7	OMIM:615777
1758	DMP1	HP:0001263	Global developmental delay	-	OMIM:615777
1758	DMP1	HP:0008732	Renal hypophosphatemia	HP:0040281	ORPHA:289176
1758	DMP1	HP:0002515	Waddling gait	54/102	OMIM:131300
1758	DMP1	HP:0012052	Low serum calcitriol	HP:0040281	ORPHA:289176
1758	DMP1	HP:0001382	Joint hypermobility	-	OMIM:615777
1758	DMP1	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:289176
1758	DMP1	HP:0001363	Craniosynostosis	-	OMIM:241520
1758	DMP1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1758	DMP1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1758	DMP1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1758	DMP1	HP:0001324	Muscle weakness	-	ORPHA:289176
1758	DMP1	HP:0001324	Muscle weakness	40/96	OMIM:131300
1758	DMP1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1758	DMP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:241520
1758	DMP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1758	DMP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1758	DMP1	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:289176
1758	DMP1	HP:0002653	Bone pain	HP:0040281	ORPHA:289176
1758	DMP1	HP:0002650	Scoliosis	12/14	OMIM:131300
1758	DMP1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1758	DMP1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1758	DMP1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1758	DMP1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1758	DMP1	HP:0000175	Cleft palate	2/7	OMIM:615777
1758	DMP1	HP:0000117	Renal phosphate wasting	HP:0040281	ORPHA:289176
1758	DMP1	HP:0002748	Rickets	-	OMIM:241520
1758	DMP1	HP:0002749	Osteomalacia	HP:0040281	ORPHA:289176
1758	DMP1	HP:0002024	Malabsorption	HP:0040282	ORPHA:289176
1758	DMP1	HP:0100559	Lower limb asymmetry	HP:0040281	ORPHA:289176
1758	DMP1	HP:0003388	Easy fatigability	36/76	OMIM:131300
1758	DMP1	HP:0100511	Abnormality of vitamin D metabolism	HP:0040281	ORPHA:289176
1758	DMP1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1758	DMP1	HP:0003472	Hypocalcemic tetany	-	ORPHA:289176
1758	DMP1	HP:0002148	Hypophosphatemia	-	OMIM:241520
1758	DMP1	HP:0003416	Spinal canal stenosis	HP:0040282	ORPHA:289176
1758	DMP1	HP:0100781	Abnormal sacroiliac joint morphology	HP:0040282	ORPHA:289176
1758	DMP1	HP:0010639	Elevated alkaline phosphatase of bone origin	HP:0040281	ORPHA:289176
1758	DMP1	HP:0003510	Severe short stature	7/7	OMIM:615777
1758	DMP1	HP:0002315	Headache	-	OMIM:131300
1758	DMP1	HP:0004976	Knee dislocation	6/7	OMIM:615777
1758	DMP1	HP:0100671	Abnormal trabecular bone morphology	HP:0040281	ORPHA:289176
1758	DMP1	HP:0009803	Short phalanx of finger	-	OMIM:615777
1758	DMP1	HP:0100686	Enthesitis	HP:0040282	ORPHA:289176
1758	DMP1	HP:0009763	Limb pain	63/92	OMIM:131300
1758	DMP1	HP:0003621	Juvenile onset	-	OMIM:131300
1758	DMP1	HP:0004912	Hypophosphatemic rickets	-	OMIM:241520
1758	DMP1	HP:0004912	Hypophosphatemic rickets	HP:0040280	ORPHA:289176
1758	DMP1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1758	DMP1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1758	DMP1	HP:6001056	Out-toeing	-	OMIM:131300
1758	DMP1	HP:0000651	Diplopia	-	OMIM:131300
1758	DMP1	HP:0001956	Truncal obesity	2/7	OMIM:615777
1758	DMP1	HP:0001903	Anemia	HP:0040283	OMIM:131300
1758	DMP1	HP:0010049	Short metacarpal	-	OMIM:615777
1758	DMP1	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:289176
1758	DMP1	HP:0000678	Dental crowding	-	OMIM:615777
1758	DMP1	HP:0000670	Carious teeth	-	OMIM:131300
1758	DMP1	HP:0011304	Broad thumb	2/7	OMIM:615777
1758	DMP1	HP:0000668	Hypodontia	-	OMIM:615777
1758	DMP1	HP:0000664	Synophrys	-	OMIM:615777
1758	DMP1	HP:0004322	Short stature	HP:0040281	ORPHA:289176
1758	DMP1	HP:0004396	Poor appetite	-	OMIM:131300
1758	DMP1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1758	DMP1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1758	DMP1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1758	DMP1	HP:0003026	Short long bone	7/7	OMIM:615777
1758	DMP1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1758	DMP1	HP:0003020	Enlargement of the wrists	HP:0040281	ORPHA:289176
1758	DMP1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1758	DMP1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1758	DMP1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1758	DMP1	HP:0100036	Pseudo-fractures	HP:0040282	ORPHA:289176
1758	DMP1	HP:0000750	Delayed speech and language development	-	OMIM:615777
1758	DMP1	HP:0011461	Fetal onset	7/7	OMIM:615777
1758	DMP1	HP:0000774	Narrow chest	2/7	OMIM:615777
1758	DMP1	HP:0003109	Hyperphosphaturia	HP:0040281	ORPHA:289176
1758	DMP1	HP:0030757	Tooth abscess	HP:0040282	ORPHA:289176
1758	DMP1	HP:0005764	Polyarticular arthritis	HP:0040281	ORPHA:289176
1758	DMP1	HP:0000926	Platyspondyly	1/7	OMIM:615777
1758	DMP1	HP:0003180	Flat acetabular roof	-	OMIM:615777
1758	DMP1	HP:0004482	Relative macrocephaly	-	OMIM:615777
1758	DMP1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1758	DMP1	HP:0000823	Delayed puberty	-	OMIM:131300
1758	DMP1	HP:0000894	Short clavicles	-	OMIM:615777
1758	DMP1	HP:0004576	Sclerotic vertebral endplates	HP:0040281	ORPHA:289176
1758	DMP1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1758	DMP1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1758	DMP1	HP:0000286	Epicanthus	1/7	OMIM:615777
1758	DMP1	HP:0000280	Coarse facial features	2/7	OMIM:615777
1758	DMP1	HP:0006463	Rickets of the lower limbs	HP:0040281	ORPHA:289176
1758	DMP1	HP:0005096	Distal femoral bowing	HP:0040281	ORPHA:289176
1758	DMP1	HP:0002814	Abnormality of the lower limb	HP:0040281	ORPHA:289176
1758	DMP1	HP:0002812	Coxa vara	HP:0040281	ORPHA:289176
1758	DMP1	HP:0002827	Hip dislocation	3/7	OMIM:615777
1758	DMP1	HP:0000252	Microcephaly	-	OMIM:615777
1758	DMP1	HP:0002857	Genu valgum	-	OMIM:131300
1758	DMP1	HP:0001533	Slender build	-	OMIM:131300
1758	DMP1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1758	DMP1	HP:0001510	Growth delay	HP:0040281	ORPHA:289176
1758	DMP1	HP:0007807	Optic nerve compression	-	OMIM:131300
1758	DMP1	HP:0011036	Abnormality of renal excretion	HP:0040281	ORPHA:289176
1758	DMP1	HP:0012368	Flat face	7/7	OMIM:615777
1758	DMP1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1758	DMP1	HP:0000365	Hearing impairment	10/67	OMIM:131300
1758	DMP1	HP:0000343	Long philtrum	1/7	OMIM:615777
1758	DMP1	HP:0011001	Increased bone mineral density	HP:0040281	ORPHA:289176
1758	DMP1	HP:0011001	Increased bone mineral density	-	OMIM:131300
1758	DMP1	HP:0011001	Increased bone mineral density	-	OMIM:241520
1758	DMP1	HP:0002982	Tibial bowing	HP:0040282	ORPHA:289176
1758	DMP1	HP:0000311	Round face	2/7	OMIM:615777
1758	DMP1	HP:0002970	Genu varum	HP:0040281	ORPHA:289176
1758	DMP1	HP:0002970	Genu varum	-	OMIM:615777
1758	DMP1	HP:0000303	Mandibular prognathia	-	OMIM:131300
1758	DMP1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:289176
1758	DMP1	HP:0000407	Sensorineural hearing impairment	-	OMIM:241520
1758	DMP1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1758	DMP1	HP:0000470	Short neck	1/7	OMIM:615777
1758	DMP1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1758	DMP1	HP:0001763	Pes planus	1/7	OMIM:615777
1758	DMP1	HP:0001840	Metatarsus adductus	-	OMIM:615777
1758	DMP1	HP:0000520	Proptosis	2/4	OMIM:131300
1758	DMP1	HP:0000520	Proptosis	7/7	OMIM:615777
1758	DMP1	HP:0000592	Blue sclerae	2/7	OMIM:615777
1758	DMP1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1758	DMP1	HP:0012514	Lower limb pain	4/4	OMIM:131300
1759	DNM1	HP:0007270	Atypical absence seizure	3/5	OMIM:616346
1759	DNM1	HP:0007270	Atypical absence seizure	HP:0040282	ORPHA:2382
1759	DNM1	HP:0020221	Clonic seizure	1/2	OMIM:620352
1759	DNM1	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
1759	DNM1	HP:0002421	Poor head control	1/1	OMIM:620352
1759	DNM1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2382
1759	DNM1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
1759	DNM1	HP:0001290	Generalized hypotonia	2/5	OMIM:616346
1759	DNM1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
1759	DNM1	HP:0001290	Generalized hypotonia	1/2	OMIM:620352
1759	DNM1	HP:0001274	Agenesis of corpus callosum	1/2	OMIM:620352
1759	DNM1	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
1759	DNM1	HP:0001268	Mental deterioration	HP:0040282	ORPHA:2382
1759	DNM1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
1759	DNM1	HP:0001288	Gait disturbance	1/5	OMIM:616346
1759	DNM1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
1759	DNM1	HP:0001250	Seizure	HP:0040282	ORPHA:442835
1759	DNM1	HP:0001250	Seizure	1/1	OMIM:620352
1759	DNM1	HP:0001252	Hypotonia	5/5	OMIM:616346
1759	DNM1	HP:0001252	Hypotonia	1/1	OMIM:620352
1759	DNM1	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
1759	DNM1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2382
1759	DNM1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
1759	DNM1	HP:0001249	Intellectual disability	5/5	OMIM:616346
1759	DNM1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
1759	DNM1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
1759	DNM1	HP:0001263	Global developmental delay	5/5	OMIM:616346
1759	DNM1	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
1759	DNM1	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:2382
1759	DNM1	HP:0002540	Inability to walk	4/5	OMIM:616346
1759	DNM1	HP:0002521	Hypsarrhythmia	3/5	OMIM:616346
1759	DNM1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
1759	DNM1	HP:0002521	Hypsarrhythmia	2/2	OMIM:620352
1759	DNM1	HP:0002527	Falls	HP:0040282	ORPHA:2382
1759	DNM1	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
1759	DNM1	HP:0002506	Diffuse cerebral atrophy	2/5	OMIM:616346
1759	DNM1	HP:0012075	Personality disorder	HP:0040282	ORPHA:2382
1759	DNM1	HP:0001347	Hyperreflexia	1/1	OMIM:620352
1759	DNM1	HP:0031165	Multifocal seizures	1/2	OMIM:620352
1759	DNM1	HP:0033725	Thin corpus callosum	1/1	OMIM:620352
1759	DNM1	HP:0001344	Absent speech	5/5	OMIM:616346
1759	DNM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620352
1759	DNM1	HP:0001337	Tremor	HP:0040283	ORPHA:442835
1759	DNM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616346
1759	DNM1	HP:0001336	Myoclonus	HP:0040282	ORPHA:2382
1759	DNM1	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
1759	DNM1	HP:0001336	Myoclonus	1/2	OMIM:620352
1759	DNM1	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
1759	DNM1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
1759	DNM1	HP:0002019	Constipation	1/1	OMIM:620352
1759	DNM1	HP:0002069	Bilateral tonic-clonic seizure	2/5	OMIM:616346
1759	DNM1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:2382
1759	DNM1	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
1759	DNM1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
1759	DNM1	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:2382
1759	DNM1	HP:0002119	Ventriculomegaly	1/2	OMIM:620352
1759	DNM1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
1759	DNM1	HP:0002169	Clonus	1/1	OMIM:620352
1759	DNM1	HP:0002179	Opisthotonus	1/2	OMIM:620352
1759	DNM1	HP:0003593	Infantile onset	5/5	OMIM:616346
1759	DNM1	HP:0003593	Infantile onset	2/3	OMIM:620352
1759	DNM1	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
1759	DNM1	HP:0100716	Self-injurious behavior	2/5	OMIM:616346
1759	DNM1	HP:0200134	Epileptic encephalopathy	5/5	OMIM:616346
1759	DNM1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
1759	DNM1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
1759	DNM1	HP:0011968	Feeding difficulties	1/2	OMIM:620352
1759	DNM1	HP:0002384	Focal impaired awareness seizure	2/5	OMIM:616346
1759	DNM1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:2382
1759	DNM1	HP:0002376	Developmental regression	-	OMIM:616346
1759	DNM1	HP:0002376	Developmental regression	HP:0040283	ORPHA:2382
1759	DNM1	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
1759	DNM1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2382
1759	DNM1	HP:0002321	Vertigo	HP:0040283	ORPHA:2382
1759	DNM1	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
1759	DNM1	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
1759	DNM1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
1759	DNM1	HP:0010819	Atonic seizure	2/10	OMIM:616346
1759	DNM1	HP:0010819	Atonic seizure	HP:0040282	ORPHA:2382
1759	DNM1	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:2382
1759	DNM1	HP:0010808	Protruding tongue	1/1	OMIM:620352
1759	DNM1	HP:0033454	Tube feeding	1/2	OMIM:620352
1759	DNM1	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
1759	DNM1	HP:0000639	Nystagmus	1/1	OMIM:620352
1759	DNM1	HP:0000637	Long palpebral fissure	1/1	OMIM:620352
1759	DNM1	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
1759	DNM1	HP:0000648	Optic atrophy	1/2	OMIM:620352
1759	DNM1	HP:0011344	Severe global developmental delay	2/2	OMIM:620352
1759	DNM1	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
1759	DNM1	HP:0004322	Short stature	HP:0040283	ORPHA:442835
1759	DNM1	HP:0004305	Involuntary movements	1/2	OMIM:620352
1759	DNM1	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
1759	DNM1	HP:0030674	Antenatal onset	1/2	OMIM:620352
1759	DNM1	HP:0000752	Hyperactivity	HP:0040282	ORPHA:2382
1759	DNM1	HP:0000737	Irritability	HP:0040282	ORPHA:2382
1759	DNM1	HP:0000737	Irritability	1/2	OMIM:620352
1759	DNM1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
1759	DNM1	HP:0000741	Apathy	HP:0040283	ORPHA:2382
1759	DNM1	HP:0012704	Widened subarachnoid space	1/2	OMIM:620352
1759	DNM1	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:2382
1759	DNM1	HP:0000717	Autism	HP:0040283	ORPHA:442835
1759	DNM1	HP:0000729	Autistic behavior	HP:0040282	ORPHA:2382
1759	DNM1	HP:0000709	Psychosis	HP:0040283	ORPHA:2382
1759	DNM1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2382
1759	DNM1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
1759	DNM1	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
1759	DNM1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:2382
1759	DNM1	HP:0034295	Reduced cerebral white matter volume	1/1	OMIM:620352
1759	DNM1	HP:0030842	Choking episodes	1/1	OMIM:620352
1759	DNM1	HP:0034353	Appendicular spasticity	1/1	OMIM:620352
1759	DNM1	HP:0000283	Broad face	1/2	OMIM:620352
1759	DNM1	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
1759	DNM1	HP:0000212	Gingival overgrowth	1/2	OMIM:620352
1759	DNM1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
1759	DNM1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
1759	DNM1	HP:0001508	Failure to thrive	1/2	OMIM:620352
1759	DNM1	HP:0030048	Colpocephaly	1/2	OMIM:620352
1759	DNM1	HP:0011097	Epileptic spasm	5/5	OMIM:616346
1759	DNM1	HP:0007874	Almond-shaped palpebral fissure	1/1	OMIM:620352
1759	DNM1	HP:0000369	Low-set ears	1/1	OMIM:620352
1759	DNM1	HP:0000341	Narrow forehead	1/1	OMIM:620352
1759	DNM1	HP:0032792	Tonic seizure	3/5	OMIM:616346
1759	DNM1	HP:0000348	High forehead	HP:0040283	ORPHA:442835
1759	DNM1	HP:0032794	Myoclonic seizure	1/5	OMIM:616346
1759	DNM1	HP:0032794	Myoclonic seizure	1/1	OMIM:620352
1759	DNM1	HP:0011195	EEG with focal sharp slow waves	HP:0040281	ORPHA:2382
1759	DNM1	HP:0011151	Atypical absence status epilepticus	2/5	OMIM:616346
1759	DNM1	HP:0012469	Infantile spasms	1/2	OMIM:620352
1759	DNM1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
1759	DNM1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
1759	DNM1	HP:0012444	Brain atrophy	1/2	OMIM:620352
1759	DNM1	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
1759	DNM1	HP:0005484	Secondary microcephaly	2/2	OMIM:620352
1759	DNM1	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
1759	DNM1	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
1759	DNM1	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
1759	DNM1	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
1760	DMPK	HP:0002486	Myotonia	HP:0040282	ORPHA:589821
1760	DMPK	HP:0002486	Myotonia	-	OMIM:160900
1760	DMPK	HP:0010864	Intellectual disability, severe	-	OMIM:160900
1760	DMPK	HP:0001290	Generalized hypotonia	-	OMIM:160900
1760	DMPK	HP:0001252	Hypotonia	-	OMIM:160900
1760	DMPK	HP:0001262	Excessive daytime somnolence	-	OMIM:160900
1760	DMPK	HP:0008770	Obsessive-compulsive trait	-	OMIM:160900
1760	DMPK	HP:0001349	Facial diplegia	-	OMIM:160900
1760	DMPK	HP:0000029	Testicular atrophy	-	OMIM:160900
1760	DMPK	HP:0008872	Feeding difficulties in infancy	-	OMIM:160900
1760	DMPK	HP:0001324	Muscle weakness	-	OMIM:160900
1760	DMPK	HP:0000006	Autosomal dominant inheritance	-	OMIM:160900
1760	DMPK	HP:0002650	Scoliosis	HP:0040282	ORPHA:589821
1760	DMPK	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:589821
1760	DMPK	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:589821
1760	DMPK	HP:0000135	Hypogonadism	-	OMIM:160900
1760	DMPK	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:589821
1760	DMPK	HP:0002019	Constipation	HP:0040283	ORPHA:589821
1760	DMPK	HP:0002027	Abdominal pain	HP:0040283	ORPHA:589821
1760	DMPK	HP:0002014	Diarrhea	HP:0040283	ORPHA:589821
1760	DMPK	HP:0002015	Dysphagia	-	OMIM:160900
1760	DMPK	HP:0002015	Dysphagia	HP:0040283	ORPHA:589821
1760	DMPK	HP:0002098	Respiratory distress	-	OMIM:160900
1760	DMPK	HP:0002059	Cerebral atrophy	-	OMIM:160900
1760	DMPK	HP:0011710	Bundle branch block	HP:0040282	ORPHA:589821
1760	DMPK	HP:0011705	First degree atrioventricular block	HP:0040282	ORPHA:589821
1760	DMPK	HP:0011705	First degree atrioventricular block	-	OMIM:160900
1760	DMPK	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:589821
1760	DMPK	HP:0004749	Atrial flutter	4/11	OMIM:160900
1760	DMPK	HP:0002292	Frontal balding	-	OMIM:160900
1760	DMPK	HP:0007010	Poor fine motor coordination	HP:0040282	ORPHA:589821
1760	DMPK	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:589821
1760	DMPK	HP:0010804	Tented upper lip vermilion	HP:0040281	ORPHA:589821
1760	DMPK	HP:0001081	Cholelithiasis	-	OMIM:160900
1760	DMPK	HP:0031843	Abnormally slow thought process	HP:0040281	ORPHA:589821
1760	DMPK	HP:0006887	Intellectual disability, progressive	-	OMIM:160900
1760	DMPK	HP:0004325	Decreased body weight	HP:0040283	ORPHA:589821
1760	DMPK	HP:0000805	Enuresis	HP:0040283	ORPHA:589821
1760	DMPK	HP:0000752	Hyperactivity	HP:0040283	ORPHA:589821
1760	DMPK	HP:0000736	Short attention span	HP:0040282	ORPHA:589821
1760	DMPK	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:589821
1760	DMPK	HP:0000729	Autistic behavior	HP:0040283	ORPHA:589821
1760	DMPK	HP:0040183	Encopresis	HP:0040283	ORPHA:589821
1760	DMPK	HP:0000297	Facial hypotonia	HP:0040281	ORPHA:589821
1760	DMPK	HP:0000256	Macrocephaly	HP:0040281	ORPHA:589821
1760	DMPK	HP:0005110	Atrial fibrillation	1/11	OMIM:160900
1760	DMPK	HP:0001561	Polyhydramnios	-	OMIM:160900
1760	DMPK	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:589821
1760	DMPK	HP:0001558	Decreased fetal movement	-	OMIM:160900
1760	DMPK	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:589821
1760	DMPK	HP:0001513	Obesity	HP:0040284	ORPHA:589821
1760	DMPK	HP:0011098	Speech apraxia	HP:0040282	ORPHA:589821
1760	DMPK	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:589821
1760	DMPK	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:589821
1760	DMPK	HP:0001622	Premature birth	HP:0040282	ORPHA:589821
1760	DMPK	HP:0000518	Cataract	-	OMIM:160900
1760	DMPK	HP:0000518	Cataract	HP:0040283	ORPHA:589821
1760	DMPK	HP:0001883	Talipes	HP:0040282	ORPHA:589821
1761	DMRT1	HP:0008715	Testicular dysgenesis	HP:0040281	ORPHA:242
1761	DMRT1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:242
1761	DMRT1	HP:0000037	Male pseudohermaphroditism	HP:0040281	ORPHA:242
1761	DMRT1	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:242
1763	DNA2	HP:0003749	Pelvic girdle muscle weakness	3/4	OMIM:615156
1763	DNA2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1763	DNA2	HP:0003737	Mitochondrial myopathy	HP:0040282	ORPHA:352470
1763	DNA2	HP:0003700	Generalized amyotrophy	1/4	OMIM:615156
1763	DNA2	HP:0001293	Cranial nerve compression	-	OMIM:131300
1763	DNA2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:352470
1763	DNA2	HP:0001288	Gait disturbance	4/4	OMIM:615156
1763	DNA2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:352470
1763	DNA2	HP:0001252	Hypotonia	2/7	OMIM:615777
1763	DNA2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:808
1763	DNA2	HP:0001249	Intellectual disability	2/2	OMIM:615807
1763	DNA2	HP:0001249	Intellectual disability	5/7	OMIM:615777
1763	DNA2	HP:0001263	Global developmental delay	2/7	OMIM:620819
1763	DNA2	HP:0001263	Global developmental delay	2/2	OMIM:615807
1763	DNA2	HP:0001263	Global developmental delay	-	OMIM:615777
1763	DNA2	HP:0002515	Waddling gait	54/102	OMIM:131300
1763	DNA2	HP:0002527	Falls	1/4	OMIM:615156
1763	DNA2	HP:0000086	Ectopic kidney	1/2	OMIM:615807
1763	DNA2	HP:0000054	Micropenis	4/4	OMIM:620819
1763	DNA2	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:808
1763	DNA2	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:808
1763	DNA2	HP:0001382	Joint hypermobility	-	OMIM:615777
1763	DNA2	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:808
1763	DNA2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1763	DNA2	HP:0000028	Cryptorchidism	3/4	OMIM:620819
1763	DNA2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1763	DNA2	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:808
1763	DNA2	HP:0002664	Neoplasm	0/7	OMIM:620819
1763	DNA2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1763	DNA2	HP:0001324	Muscle weakness	1/4	OMIM:615156
1763	DNA2	HP:0001324	Muscle weakness	40/96	OMIM:131300
1763	DNA2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1763	DNA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615807
1763	DNA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1763	DNA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620819
1763	DNA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:615156
1763	DNA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1763	DNA2	HP:0002650	Scoliosis	HP:0040283	ORPHA:808
1763	DNA2	HP:0002650	Scoliosis	12/14	OMIM:131300
1763	DNA2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1763	DNA2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1763	DNA2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1763	DNA2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1763	DNA2	HP:0000175	Cleft palate	2/7	OMIM:615777
1763	DNA2	HP:0007663	Reduced visual acuity	7/7	OMIM:620819
1763	DNA2	HP:0002751	Kyphoscoliosis	1/2	OMIM:615807
1763	DNA2	HP:0002750	Delayed skeletal maturation	4/4	OMIM:620819
1763	DNA2	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:808
1763	DNA2	HP:0003325	Limb-girdle muscle weakness	HP:0040281	ORPHA:352470
1763	DNA2	HP:0003326	Myalgia	HP:0040282	ORPHA:352470
1763	DNA2	HP:0003326	Myalgia	1/4	OMIM:615156
1763	DNA2	HP:0004673	Decreased facial expression	HP:0040282	ORPHA:352470
1763	DNA2	HP:0004673	Decreased facial expression	1/4	OMIM:615156
1763	DNA2	HP:0002007	Frontal bossing	7/7	OMIM:620819
1763	DNA2	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:352470
1763	DNA2	HP:0003307	Hyperlordosis	1/4	OMIM:615156
1763	DNA2	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:808
1763	DNA2	HP:0002094	Dyspnea	1/4	OMIM:615156
1763	DNA2	HP:0003394	Muscle spasm	HP:0040282	ORPHA:352470
1763	DNA2	HP:0003394	Muscle spasm	1/4	OMIM:615156
1763	DNA2	HP:0003391	Gowers sign	2/4	OMIM:615156
1763	DNA2	HP:0003391	Gowers sign	HP:0040282	ORPHA:352470
1763	DNA2	HP:0002079	Hypoplasia of the corpus callosum	2/7	OMIM:620819
1763	DNA2	HP:0003388	Easy fatigability	36/76	OMIM:131300
1763	DNA2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1763	DNA2	HP:0002119	Ventriculomegaly	2/7	OMIM:620819
1763	DNA2	HP:0002176	Spinal cord compression	1/2	OMIM:615807
1763	DNA2	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:808
1763	DNA2	HP:0003593	Infantile onset	7/7	OMIM:620819
1763	DNA2	HP:0003577	Congenital onset	2/2	OMIM:615807
1763	DNA2	HP:0003581	Adult onset	2/4	OMIM:615156
1763	DNA2	HP:0003551	Difficulty climbing stairs	1/4	OMIM:615156
1763	DNA2	HP:0003547	Shoulder girdle muscle weakness	1/4	OMIM:615156
1763	DNA2	HP:0003546	Exercise intolerance	-	OMIM:615156
1763	DNA2	HP:0002209	Sparse scalp hair	7/7	OMIM:620819
1763	DNA2	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:808
1763	DNA2	HP:0008404	Nail dystrophy	6/7	OMIM:620819
1763	DNA2	HP:0008331	Elevated creatine kinase after exercise	HP:0040282	ORPHA:352470
1763	DNA2	HP:0003510	Severe short stature	7/7	OMIM:615777
1763	DNA2	HP:0001029	Poikiloderma	7/7	OMIM:620819
1763	DNA2	HP:0003689	Multiple mitochondrial DNA deletions	4/4	OMIM:615156
1763	DNA2	HP:0003677	Slowly progressive	-	OMIM:615156
1763	DNA2	HP:0002315	Headache	-	OMIM:131300
1763	DNA2	HP:0004976	Knee dislocation	6/7	OMIM:615777
1763	DNA2	HP:6000483	Empty sella turcica	1/7	OMIM:620819
1763	DNA2	HP:0009804	Tooth agenesis	HP:0040282	ORPHA:808
1763	DNA2	HP:0009803	Short phalanx of finger	4/7	OMIM:620819
1763	DNA2	HP:0009803	Short phalanx of finger	-	OMIM:615777
1763	DNA2	HP:0009763	Limb pain	63/92	OMIM:131300
1763	DNA2	HP:0003621	Juvenile onset	-	OMIM:131300
1763	DNA2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1763	DNA2	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:808
1763	DNA2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1763	DNA2	HP:6001056	Out-toeing	-	OMIM:131300
1763	DNA2	HP:0000651	Diplopia	-	OMIM:131300
1763	DNA2	HP:0000648	Optic atrophy	1/7	OMIM:620819
1763	DNA2	HP:0001956	Truncal obesity	2/7	OMIM:615777
1763	DNA2	HP:0001903	Anemia	HP:0040283	OMIM:131300
1763	DNA2	HP:0010049	Short metacarpal	4/4	OMIM:620819
1763	DNA2	HP:0010049	Short metacarpal	-	OMIM:615777
1763	DNA2	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:808
1763	DNA2	HP:0000684	Delayed eruption of teeth	1/6	OMIM:620819
1763	DNA2	HP:0011342	Mild global developmental delay	HP:0040281	ORPHA:808
1763	DNA2	HP:0000678	Dental crowding	-	OMIM:615777
1763	DNA2	HP:0000659	Peters anomaly	1/7	OMIM:620819
1763	DNA2	HP:0000670	Carious teeth	-	OMIM:131300
1763	DNA2	HP:0011304	Broad thumb	2/7	OMIM:615777
1763	DNA2	HP:0000668	Hypodontia	-	OMIM:615777
1763	DNA2	HP:0000664	Synophrys	-	OMIM:615777
1763	DNA2	HP:0004325	Decreased body weight	1/1	OMIM:620819
1763	DNA2	HP:0004322	Short stature	HP:0040281	ORPHA:808
1763	DNA2	HP:0004322	Short stature	7/7	OMIM:620819
1763	DNA2	HP:0004322	Short stature	2/2	OMIM:615807
1763	DNA2	HP:0004326	Cachexia	HP:0040281	ORPHA:808
1763	DNA2	HP:0004396	Poor appetite	-	OMIM:131300
1763	DNA2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1763	DNA2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1763	DNA2	HP:0003015	Flared metaphysis	3/3	OMIM:620819
1763	DNA2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1763	DNA2	HP:0003026	Short long bone	7/7	OMIM:615777
1763	DNA2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1763	DNA2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1763	DNA2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1763	DNA2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1763	DNA2	HP:0000750	Delayed speech and language development	-	OMIM:615777
1763	DNA2	HP:0000716	Depression	HP:0040282	ORPHA:352470
1763	DNA2	HP:0000716	Depression	1/4	OMIM:615156
1763	DNA2	HP:0011462	Young adult onset	2/4	OMIM:615156
1763	DNA2	HP:0011461	Fetal onset	7/7	OMIM:615777
1763	DNA2	HP:0000774	Narrow chest	2/7	OMIM:615777
1763	DNA2	HP:0003198	Myopathy	HP:0040282	ORPHA:352470
1763	DNA2	HP:0003198	Myopathy	1/4	OMIM:615156
1763	DNA2	HP:0000926	Platyspondyly	2/2	OMIM:620819
1763	DNA2	HP:0000926	Platyspondyly	1/7	OMIM:615777
1763	DNA2	HP:0003180	Flat acetabular roof	-	OMIM:615777
1763	DNA2	HP:0004482	Relative macrocephaly	-	OMIM:615777
1763	DNA2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1763	DNA2	HP:0000821	Hypothyroidism	5/6	OMIM:620819
1763	DNA2	HP:0000823	Delayed puberty	-	OMIM:131300
1763	DNA2	HP:0040013	Decreased mitochondrial number	HP:0040282	ORPHA:352470
1763	DNA2	HP:0000894	Short clavicles	-	OMIM:615777
1763	DNA2	HP:0003236	Elevated circulating creatine kinase concentration	1/4	OMIM:615156
1763	DNA2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1763	DNA2	HP:0034396	Hippocampal malrotation	1/7	OMIM:620819
1763	DNA2	HP:0045075	Sparse eyebrow	7/7	OMIM:620819
1763	DNA2	HP:0000992	Cutaneous photosensitivity	7/7	OMIM:620819
1763	DNA2	HP:0034323	Reduced circulating growth hormone concentration	6/6	OMIM:620819
1763	DNA2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1763	DNA2	HP:0000938	Osteopenia	2/3	OMIM:620819
1763	DNA2	HP:0008066	Abnormal blistering of the skin	5/7	OMIM:620819
1763	DNA2	HP:0000286	Epicanthus	1/7	OMIM:615777
1763	DNA2	HP:0000280	Coarse facial features	2/7	OMIM:615777
1763	DNA2	HP:0000275	Narrow face	HP:0040281	ORPHA:808
1763	DNA2	HP:0002827	Hip dislocation	3/7	OMIM:615777
1763	DNA2	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:352470
1763	DNA2	HP:0000252	Microcephaly	HP:0040281	ORPHA:808
1763	DNA2	HP:0000252	Microcephaly	5/7	OMIM:620819
1763	DNA2	HP:0000252	Microcephaly	2/2	OMIM:615807
1763	DNA2	HP:0000252	Microcephaly	-	OMIM:615777
1763	DNA2	HP:0002875	Exertional dyspnea	2/4	OMIM:615156
1763	DNA2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:352470
1763	DNA2	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:352470
1763	DNA2	HP:0002857	Genu valgum	-	OMIM:131300
1763	DNA2	HP:0002870	Obstructive sleep apnea	1/4	OMIM:615156
1763	DNA2	HP:0002870	Obstructive sleep apnea	HP:0040282	ORPHA:352470
1763	DNA2	HP:0001533	Slender build	1/4	OMIM:615156
1763	DNA2	HP:0001533	Slender build	-	OMIM:131300
1763	DNA2	HP:0001533	Slender build	HP:0040282	ORPHA:352470
1763	DNA2	HP:0001518	Small for gestational age	6/7	OMIM:620819
1763	DNA2	HP:0001511	Intrauterine growth retardation	2/2	OMIM:620819
1763	DNA2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:808
1763	DNA2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1763	DNA2	HP:0007807	Optic nerve compression	-	OMIM:131300
1763	DNA2	HP:0000387	Absent earlobe	HP:0040282	ORPHA:808
1763	DNA2	HP:0012368	Flat face	7/7	OMIM:615777
1763	DNA2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1763	DNA2	HP:0000363	Abnormal earlobe morphology	HP:0040282	ORPHA:808
1763	DNA2	HP:0000365	Hearing impairment	10/67	OMIM:131300
1763	DNA2	HP:0000343	Long philtrum	1/7	OMIM:615777
1763	DNA2	HP:0011001	Increased bone mineral density	-	OMIM:131300
1763	DNA2	HP:0000347	Micrognathia	2/2	OMIM:615807
1763	DNA2	HP:0000347	Micrognathia	HP:0040281	ORPHA:808
1763	DNA2	HP:0000311	Round face	2/7	OMIM:615777
1763	DNA2	HP:0001655	Patent foramen ovale	1/4	OMIM:615156
1763	DNA2	HP:0002970	Genu varum	-	OMIM:615777
1763	DNA2	HP:0000303	Mandibular prognathia	-	OMIM:131300
1763	DNA2	HP:0007957	Corneal opacity	5/7	OMIM:620819
1763	DNA2	HP:0007970	Congenital ptosis	HP:0040282	ORPHA:352470
1763	DNA2	HP:0005280	Depressed nasal bridge	7/7	OMIM:620819
1763	DNA2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1763	DNA2	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:808
1763	DNA2	HP:0000490	Deeply set eye	5/7	OMIM:620819
1763	DNA2	HP:0000470	Short neck	1/7	OMIM:615777
1763	DNA2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1763	DNA2	HP:0001763	Pes planus	1/7	OMIM:615777
1763	DNA2	HP:0000444	Convex nasal ridge	2/2	OMIM:615807
1763	DNA2	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:808
1763	DNA2	HP:0000518	Cataract	6/6	OMIM:620819
1763	DNA2	HP:0001840	Metatarsus adductus	-	OMIM:615777
1763	DNA2	HP:0001852	Sandal gap	HP:0040281	ORPHA:808
1763	DNA2	HP:0000520	Proptosis	2/4	OMIM:131300
1763	DNA2	HP:0000520	Proptosis	7/7	OMIM:615777
1763	DNA2	HP:0000508	Ptosis	3/4	OMIM:615156
1763	DNA2	HP:0000501	Glaucoma	5/7	OMIM:620819
1763	DNA2	HP:0000501	Glaucoma	HP:0040282	ORPHA:808
1763	DNA2	HP:0000597	Ophthalmoparesis	1/4	OMIM:615156
1763	DNA2	HP:0030353	Decreased serum insulin-like growth factor 1	6/6	OMIM:620819
1763	DNA2	HP:0000590	Progressive external ophthalmoplegia	4/4	OMIM:615156
1763	DNA2	HP:0000590	Progressive external ophthalmoplegia	HP:0040281	ORPHA:352470
1763	DNA2	HP:0000592	Blue sclerae	2/7	OMIM:615777
1763	DNA2	HP:0000568	Microphthalmia	4/7	OMIM:620819
1763	DNA2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1763	DNA2	HP:0012514	Lower limb pain	4/4	OMIM:131300
1767	DNAH5	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
1767	DNAH5	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
1767	DNAH5	HP:0001217	Clubbing	HP:0040283	ORPHA:244
1767	DNAH5	HP:0000007	Autosomal recessive inheritance	-	OMIM:608644
1767	DNAH5	HP:0002643	Neonatal respiratory distress	3/5	OMIM:608644
1767	DNAH5	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
1767	DNAH5	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
1767	DNAH5	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
1767	DNAH5	HP:0031245	Productive cough	HP:0040282	ORPHA:244
1767	DNAH5	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
1767	DNAH5	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
1767	DNAH5	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
1767	DNAH5	HP:0002110	Bronchiectasis	5/6	OMIM:608644
1767	DNAH5	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
1767	DNAH5	HP:0008222	Female infertility	HP:0040283	ORPHA:244
1767	DNAH5	HP:0003593	Infantile onset	3/6	OMIM:608644
1767	DNAH5	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
1767	DNAH5	HP:0002205	Recurrent respiratory infections	-	OMIM:608644
1767	DNAH5	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
1767	DNAH5	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
1767	DNAH5	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
1767	DNAH5	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
1767	DNAH5	HP:0003623	Neonatal onset	3/6	OMIM:608644
1767	DNAH5	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
1767	DNAH5	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
1767	DNAH5	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
1767	DNAH5	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
1767	DNAH5	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
1767	DNAH5	HP:0030828	Wheezing	HP:0040283	ORPHA:244
1767	DNAH5	HP:0003251	Male infertility	HP:0040282	ORPHA:244
1767	DNAH5	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
1767	DNAH5	HP:0033036	Decreased nasal nitric oxide	6/6	OMIM:608644
1767	DNAH5	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
1767	DNAH5	HP:0012265	Ciliary dyskinesia	-	OMIM:608644
1767	DNAH5	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
1767	DNAH5	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
1767	DNAH5	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
1767	DNAH5	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
1767	DNAH5	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
1767	DNAH5	HP:0001696	Situs inversus totalis	3/6	OMIM:608644
1767	DNAH5	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
1767	DNAH5	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
1767	DNAH5	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
1767	DNAH5	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
1767	DNAH5	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
1767	DNAH5	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
1767	DNAH5	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
1767	DNAH5	HP:0000403	Recurrent otitis media	6/6	OMIM:608644
1767	DNAH5	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
1767	DNAH5	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
1767	DNAH5	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
1767	DNAH5	HP:0011108	Recurrent sinusitis	6/6	OMIM:608644
1767	DNAH5	HP:0001746	Asplenia	HP:0040284	ORPHA:244
1767	DNAH5	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
1767	DNAH5	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
1767	DNAH5	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
1767	DNAH5	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
1767	DNAH5	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
1769	DNAH8	HP:0000007	Autosomal recessive inheritance	-	OMIM:619095
1769	DNAH8	HP:0032558	Absent sperm flagella	1/1	OMIM:619095
1769	DNAH8	HP:0032559	Short sperm flagella	4/4	OMIM:619095
1769	DNAH8	HP:0032560	Coiled sperm flagella	4/4	OMIM:619095
1769	DNAH8	HP:0003581	Adult onset	3/3	OMIM:619095
1769	DNAH8	HP:0033393	Irregularly shaped sperm tail	4/4	OMIM:619095
1769	DNAH8	HP:0003251	Male infertility	4/4	OMIM:619095
1769	DNAH8	HP:0012207	Reduced sperm motility	4/4	OMIM:619095
1770	DNAH9	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
1770	DNAH9	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
1770	DNAH9	HP:0001217	Clubbing	HP:0040283	ORPHA:244
1770	DNAH9	HP:0032342	Reduced forced expiratory volume in one second	1/4	OMIM:618300
1770	DNAH9	HP:0012020	Right aortic arch	1/5	OMIM:618300
1770	DNAH9	HP:0000027	Azoospermia	1/1	OMIM:618300
1770	DNAH9	HP:0000007	Autosomal recessive inheritance	-	OMIM:618300
1770	DNAH9	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
1770	DNAH9	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
1770	DNAH9	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
1770	DNAH9	HP:0031245	Productive cough	HP:0040282	ORPHA:244
1770	DNAH9	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
1770	DNAH9	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
1770	DNAH9	HP:0033158	Reduced respiratory ciliary beating frequency	1/4	OMIM:618300
1770	DNAH9	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
1770	DNAH9	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
1770	DNAH9	HP:0008222	Female infertility	HP:0040283	ORPHA:244
1770	DNAH9	HP:0003577	Congenital onset	1/4	OMIM:618300
1770	DNAH9	HP:0002257	Chronic rhinitis	4/4	OMIM:618300
1770	DNAH9	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
1770	DNAH9	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
1770	DNAH9	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
1770	DNAH9	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
1770	DNAH9	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
1770	DNAH9	HP:0003621	Juvenile onset	2/4	OMIM:618300
1770	DNAH9	HP:0031854	Left Isomerism	1/5	OMIM:618300
1770	DNAH9	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
1770	DNAH9	HP:0012735	Cough	4/4	OMIM:618300
1770	DNAH9	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
1770	DNAH9	HP:0011463	Childhood onset	1/4	OMIM:618300
1770	DNAH9	HP:0000789	Infertility	1/1	OMIM:618300
1770	DNAH9	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
1770	DNAH9	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
1770	DNAH9	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
1770	DNAH9	HP:0011540	Congenitally corrected transposition of the great arteries	1/4	OMIM:618300
1770	DNAH9	HP:0011579	Unbalanced atrioventricular canal defect	1/4	OMIM:618300
1770	DNAH9	HP:0030828	Wheezing	HP:0040283	ORPHA:244
1770	DNAH9	HP:0003251	Male infertility	HP:0040282	ORPHA:244
1770	DNAH9	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
1770	DNAH9	HP:0033036	Decreased nasal nitric oxide	1/4	OMIM:618300
1770	DNAH9	HP:0011671	Interrupted inferior vena cava with azygous continuation	1/5	OMIM:618300
1770	DNAH9	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
1770	DNAH9	HP:0012256	Absent outer dynein arms	1/1	OMIM:618300
1770	DNAH9	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
1770	DNAH9	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
1770	DNAH9	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
1770	DNAH9	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
1770	DNAH9	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
1770	DNAH9	HP:0001696	Situs inversus totalis	7/9	OMIM:618300
1770	DNAH9	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
1770	DNAH9	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
1770	DNAH9	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
1770	DNAH9	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
1770	DNAH9	HP:0001643	Patent ductus arteriosus	1/5	OMIM:618300
1770	DNAH9	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
1770	DNAH9	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
1770	DNAH9	HP:0006695	Atrioventricular canal defect	1/5	OMIM:618300
1770	DNAH9	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
1770	DNAH9	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
1770	DNAH9	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
1770	DNAH9	HP:0011109	Chronic sinusitis	4/4	OMIM:618300
1770	DNAH9	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
1770	DNAH9	HP:0001746	Asplenia	HP:0040284	ORPHA:244
1770	DNAH9	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
1770	DNAH9	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
1770	DNAH9	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
1770	DNAH9	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
1770	DNAH9	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
1773	DNASE1	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
1773	DNASE1	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
1773	DNASE1	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
1773	DNASE1	HP:0001250	Seizure	-	OMIM:152700
1773	DNASE1	HP:0001250	Seizure	HP:0040283	ORPHA:536
1773	DNASE1	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
1773	DNASE1	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
1773	DNASE1	HP:0001369	Arthritis	HP:0040282	ORPHA:536
1773	DNASE1	HP:0001369	Arthritis	-	OMIM:152700
1773	DNASE1	HP:0033834	Malaise	HP:0040281	ORPHA:536
1773	DNASE1	HP:0012085	Pyuria	HP:0040282	ORPHA:536
1773	DNASE1	HP:0033726	Lupus nephritis	700/1827	OMIM:152700
1773	DNASE1	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
1773	DNASE1	HP:0025300	Malar rash	-	OMIM:152700
1773	DNASE1	HP:0025300	Malar rash	HP:0040282	ORPHA:536
1773	DNASE1	HP:0000006	Autosomal dominant inheritance	-	OMIM:152700
1773	DNASE1	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
1773	DNASE1	HP:0000123	Nephritis	-	OMIM:152700
1773	DNASE1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
1773	DNASE1	HP:0002725	Systemic lupus erythematosus	-	OMIM:152700
1773	DNASE1	HP:0002072	Chorea	HP:0040284	ORPHA:536
1773	DNASE1	HP:0002039	Anorexia	HP:0040281	ORPHA:536
1773	DNASE1	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
1773	DNASE1	HP:0002102	Pleuritis	-	OMIM:152700
1773	DNASE1	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
1773	DNASE1	HP:0003493	Antinuclear antibody positivity	-	OMIM:152700
1773	DNASE1	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
1773	DNASE1	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
1773	DNASE1	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
1773	DNASE1	HP:0003613	Antiphospholipid antibody positivity	-	OMIM:152700
1773	DNASE1	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
1773	DNASE1	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
1773	DNASE1	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
1773	DNASE1	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
1773	DNASE1	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
1773	DNASE1	HP:0001945	Fever	HP:0040281	ORPHA:536
1773	DNASE1	HP:0000716	Depression	HP:0040283	ORPHA:536
1773	DNASE1	HP:0000709	Psychosis	-	OMIM:152700
1773	DNASE1	HP:0000790	Hematuria	HP:0040282	ORPHA:536
1773	DNASE1	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
1773	DNASE1	HP:0000822	Hypertension	HP:0040282	ORPHA:536
1773	DNASE1	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
1773	DNASE1	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
1773	DNASE1	HP:0045073	Serositis	HP:0040283	ORPHA:536
1773	DNASE1	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
1773	DNASE1	HP:0000992	Cutaneous photosensitivity	-	OMIM:152700
1773	DNASE1	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
1773	DNASE1	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
1773	DNASE1	HP:0001596	Alopecia	HP:0040282	ORPHA:536
1773	DNASE1	HP:0012378	Fatigue	HP:0040281	ORPHA:536
1773	DNASE1	HP:0001701	Pericarditis	-	OMIM:152700
1773	DNASE1	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
1773	DNASE1	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
1773	DNASE1	HP:0001824	Weight loss	HP:0040281	ORPHA:536
1773	DNASE1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
1773	DNASE1	HP:0001882	Decreased total leukocyte count	-	OMIM:152700
1773	DNASE1	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
1773	DNASE1	HP:0001878	Hemolytic anemia	-	OMIM:152700
1773	DNASE1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
1773	DNASE1	HP:0001873	Thrombocytopenia	-	OMIM:152700
1776	DNASE1L3	HP:0032229	Perinuclear antineutrophil antibody positivity	11/17	OMIM:614420
1776	DNASE1L3	HP:0100820	Glomerulopathy	HP:0040282	ORPHA:36412
1776	DNASE1L3	HP:0001287	Meningitis	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0001250	Seizure	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0001251	Ataxia	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0007400	Irregular hyperpigmentation	HP:0040282	ORPHA:36412
1776	DNASE1L3	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:36412
1776	DNASE1L3	HP:0000093	Proteinuria	HP:0040282	ORPHA:36412
1776	DNASE1L3	HP:0001373	Joint dislocation	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0001369	Arthritis	HP:0040282	ORPHA:36412
1776	DNASE1L3	HP:0033726	Lupus nephritis	11/17	OMIM:614420
1776	DNASE1L3	HP:0000007	Autosomal recessive inheritance	-	OMIM:614420
1776	DNASE1L3	HP:0002665	Lymphoma	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0002718	Recurrent bacterial infections	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0002725	Systemic lupus erythematosus	17/17	OMIM:614420
1776	DNASE1L3	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:36412
1776	DNASE1L3	HP:0002027	Abdominal pain	HP:0040282	ORPHA:36412
1776	DNASE1L3	HP:0003326	Myalgia	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0002014	Diarrhea	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0100534	Episcleritis	HP:0040282	ORPHA:36412
1776	DNASE1L3	HP:0100533	Inflammatory abnormality of the eye	HP:0040282	ORPHA:36412
1776	DNASE1L3	HP:0002097	Emphysema	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0002094	Dyspnea	HP:0040282	ORPHA:36412
1776	DNASE1L3	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0002105	Hemoptysis	HP:0040282	ORPHA:36412
1776	DNASE1L3	HP:0003493	Antinuclear antibody positivity	17/17	OMIM:614420
1776	DNASE1L3	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0002202	Pleural effusion	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0011944	Small vessel vasculitis	HP:0040281	ORPHA:36412
1776	DNASE1L3	HP:0100665	Angioedema	HP:0040282	ORPHA:36412
1776	DNASE1L3	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0003621	Juvenile onset	8/17	OMIM:614420
1776	DNASE1L3	HP:0020151	Anti-dsDNA antibody positivity	16/17	OMIM:614420
1776	DNASE1L3	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0012735	Cough	HP:0040282	ORPHA:36412
1776	DNASE1L3	HP:0100021	Cerebral palsy	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0011463	Childhood onset	9/17	OMIM:614420
1776	DNASE1L3	HP:0000790	Hematuria	HP:0040282	ORPHA:36412
1776	DNASE1L3	HP:0004431	Reduced circulating complement concentration	HP:0040281	ORPHA:36412
1776	DNASE1L3	HP:0100326	Immunologic hypersensitivity	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0045042	Decreased circulating complement C4 concentration	17/17	OMIM:614420
1776	DNASE1L3	HP:0000989	Pruritus	HP:0040281	ORPHA:36412
1776	DNASE1L3	HP:0000988	Skin rash	HP:0040281	ORPHA:36412
1776	DNASE1L3	HP:0001541	Ascites	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0006536	Airway obstruction	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0001698	Pericardial effusion	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0002960	Autoimmunity	HP:0040282	ORPHA:36412
1776	DNASE1L3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0001744	Splenomegaly	HP:0040283	ORPHA:36412
1776	DNASE1L3	HP:0005421	Decreased circulating complement C3 concentration	17/17	OMIM:614420
1776	DNASE1L3	HP:0000509	Conjunctivitis	HP:0040282	ORPHA:36412
1776	DNASE1L3	HP:0000554	Uveitis	HP:0040282	ORPHA:36412
1777	DNASE2	HP:0032252	Granuloma	1/1	OMIM:619858
1777	DNASE2	HP:0001270	Motor delay	1/1	OMIM:619858
1777	DNASE2	HP:0000093	Proteinuria	3/3	OMIM:619858
1777	DNASE2	HP:0001395	Hepatic fibrosis	2/2	OMIM:619858
1777	DNASE2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619858
1777	DNASE2	HP:0002611	Cholestatic liver disease	3/3	OMIM:619858
1777	DNASE2	HP:0012156	Hemophagocytosis	1/1	OMIM:619858
1777	DNASE2	HP:0001433	Hepatosplenomegaly	1/1	OMIM:619858
1777	DNASE2	HP:0002028	Chronic diarrhea	1/1	OMIM:619858
1777	DNASE2	HP:0002194	Delayed gross motor development	1/1	OMIM:619858
1777	DNASE2	HP:0003577	Congenital onset	3/3	OMIM:619858
1777	DNASE2	HP:0009710	Chilblains	1/3	OMIM:619858
1777	DNASE2	HP:0100651	Type I diabetes mellitus	1/3	OMIM:619858
1777	DNASE2	HP:0003623	Neonatal onset	3/3	OMIM:619858
1777	DNASE2	HP:4000055	Intestinal inflammation	1/1	OMIM:619858
1777	DNASE2	HP:0001945	Fever	1/1	OMIM:619858
1777	DNASE2	HP:0001954	Recurrent fever	3/3	OMIM:619858
1777	DNASE2	HP:0003040	Arthropathy	1/3	OMIM:619858
1777	DNASE2	HP:0009125	Lipodystrophy	1/3	OMIM:619858
1777	DNASE2	HP:0000793	Membranoproliferative glomerulonephritis	2/2	OMIM:619858
1777	DNASE2	HP:0001508	Failure to thrive	2/4	OMIM:619858
1777	DNASE2	HP:0001510	Growth delay	1/1	OMIM:619858
1777	DNASE2	HP:0031693	Severe Epstein Barr virus infection	1/1	OMIM:619858
1777	DNASE2	HP:0001876	Pancytopenia	1/1	OMIM:619858
1778	DYNC1H1	HP:0001169	Broad palm	1/1	OMIM:614563
1778	DYNC1H1	HP:0002460	Distal muscle weakness	12/12	OMIM:614228
1778	DYNC1H1	HP:0007269	Spinal muscular atrophy	-	OMIM:158600
1778	DYNC1H1	HP:0001270	Motor delay	8/13	OMIM:614228
1778	DYNC1H1	HP:0001288	Gait disturbance	-	OMIM:614563
1778	DYNC1H1	HP:0001250	Seizure	7/8	OMIM:614563
1778	DYNC1H1	HP:0001252	Hypotonia	1/1	OMIM:614563
1778	DYNC1H1	HP:0001249	Intellectual disability	6/11	OMIM:614563
1778	DYNC1H1	HP:0001265	Hyporeflexia	1/1	OMIM:614563
1778	DYNC1H1	HP:0001265	Hyporeflexia	7/12	OMIM:614228
1778	DYNC1H1	HP:0001263	Global developmental delay	1/12	OMIM:614228
1778	DYNC1H1	HP:0001263	Global developmental delay	HP:0040283	OMIM:158600
1778	DYNC1H1	HP:0001263	Global developmental delay	1/1	OMIM:614563
1778	DYNC1H1	HP:0007359	Focal-onset seizure	5/11	OMIM:614563
1778	DYNC1H1	HP:0002515	Waddling gait	-	OMIM:158600
1778	DYNC1H1	HP:0002515	Waddling gait	1/1	OMIM:614563
1778	DYNC1H1	HP:0002510	Spastic tetraplegia	3/8	OMIM:614563
1778	DYNC1H1	HP:0001357	Plagiocephaly	1/1	OMIM:614563
1778	DYNC1H1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614563
1778	DYNC1H1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614228
1778	DYNC1H1	HP:0000006	Autosomal dominant inheritance	-	OMIM:158600
1778	DYNC1H1	HP:0001302	Pachygyria	9/11	OMIM:614563
1778	DYNC1H1	HP:0001320	Cerebellar vermis hypoplasia	3/11	OMIM:614563
1778	DYNC1H1	HP:0008994	Proximal muscle weakness in lower limbs	-	OMIM:158600
1778	DYNC1H1	HP:0008956	Proximal lower limb amyotrophy	-	OMIM:158600
1778	DYNC1H1	HP:0011808	Decreased patellar reflex	-	OMIM:158600
1778	DYNC1H1	HP:0002079	Hypoplasia of the corpus callosum	7/11	OMIM:614563
1778	DYNC1H1	HP:0003477	Peripheral axonal neuropathy	3/8	OMIM:614563
1778	DYNC1H1	HP:0003474	Somatic sensory dysfunction	-	OMIM:158600
1778	DYNC1H1	HP:0003445	EMG: neuropathic changes	-	OMIM:158600
1778	DYNC1H1	HP:0010602	Type 2 muscle fiber predominance	-	OMIM:158600
1778	DYNC1H1	HP:0003593	Infantile onset	1/1	OMIM:614563
1778	DYNC1H1	HP:0032046	Focal cortical dysplasia	1/1	OMIM:614563
1778	DYNC1H1	HP:0002365	Hypoplasia of the brainstem	2/11	OMIM:614563
1778	DYNC1H1	HP:0003690	Limb muscle weakness	-	OMIM:614228
1778	DYNC1H1	HP:0002359	Frequent falls	3/12	OMIM:614228
1778	DYNC1H1	HP:0003677	Slowly progressive	-	OMIM:158600
1778	DYNC1H1	HP:0003677	Slowly progressive	-	OMIM:614228
1778	DYNC1H1	HP:0009830	Peripheral neuropathy	-	OMIM:614228
1778	DYNC1H1	HP:0006821	Frontal polymicrogyria	3/11	OMIM:614563
1778	DYNC1H1	HP:0004279	Short palm	1/1	OMIM:614563
1778	DYNC1H1	HP:0009046	Difficulty running	-	OMIM:158600
1778	DYNC1H1	HP:0009046	Difficulty running	-	OMIM:614228
1778	DYNC1H1	HP:0031936	Delayed ability to walk	-	OMIM:158600
1778	DYNC1H1	HP:0000750	Delayed speech and language development	2/12	OMIM:614228
1778	DYNC1H1	HP:0011463	Childhood onset	-	OMIM:158600
1778	DYNC1H1	HP:0000297	Facial hypotonia	1/1	OMIM:614563
1778	DYNC1H1	HP:0000252	Microcephaly	3/8	OMIM:614563
1778	DYNC1H1	HP:0030051	Tip-toe gait	1/1	OMIM:614563
1778	DYNC1H1	HP:0002936	Distal sensory impairment	6/12	OMIM:614228
1778	DYNC1H1	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:614563
1778	DYNC1H1	HP:0001773	Short foot	1/1	OMIM:614563
1778	DYNC1H1	HP:0001769	Broad foot	1/1	OMIM:614563
1778	DYNC1H1	HP:0001760	Abnormal foot morphology	-	OMIM:158600
1778	DYNC1H1	HP:0001761	Pes cavus	10/12	OMIM:614228
1778	DYNC1H1	HP:0011220	Prominent forehead	1/1	OMIM:614563
1778	DYNC1H1	HP:0001883	Talipes	1/12	OMIM:614228
1781	DYNC1I2	HP:0010864	Intellectual disability, severe	5/5	OMIM:618492
1781	DYNC1I2	HP:0009879	Simplified gyral pattern	3/3	OMIM:618492
1781	DYNC1I2	HP:0001290	Generalized hypotonia	-	OMIM:618492
1781	DYNC1I2	HP:0001274	Agenesis of corpus callosum	1/3	OMIM:618492
1781	DYNC1I2	HP:0001270	Motor delay	5/5	OMIM:618492
1781	DYNC1I2	HP:0001250	Seizure	2/2	OMIM:618492
1781	DYNC1I2	HP:0001260	Dysarthria	3/3	OMIM:618492
1781	DYNC1I2	HP:0001263	Global developmental delay	5/5	OMIM:618492
1781	DYNC1I2	HP:0001257	Spasticity	-	OMIM:618492
1781	DYNC1I2	HP:0002540	Inability to walk	-	OMIM:618492
1781	DYNC1I2	HP:0001347	Hyperreflexia	-	OMIM:618492
1781	DYNC1I2	HP:0001331	Absent septum pellucidum	1/3	OMIM:618492
1781	DYNC1I2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618492
1781	DYNC1I2	HP:0002079	Hypoplasia of the corpus callosum	1/3	OMIM:618492
1781	DYNC1I2	HP:0002059	Cerebral atrophy	-	OMIM:618492
1781	DYNC1I2	HP:0003593	Infantile onset	-	OMIM:618492
1781	DYNC1I2	HP:0007018	Attention deficit hyperactivity disorder	3/3	OMIM:618492
1781	DYNC1I2	HP:0002365	Hypoplasia of the brainstem	-	OMIM:618492
1781	DYNC1I2	HP:0011344	Severe global developmental delay	-	OMIM:618492
1781	DYNC1I2	HP:0004322	Short stature	-	OMIM:618492
1781	DYNC1I2	HP:0031936	Delayed ability to walk	-	OMIM:618492
1781	DYNC1I2	HP:0000750	Delayed speech and language development	5/5	OMIM:618492
1781	DYNC1I2	HP:0000718	Aggressive behavior	3/3	OMIM:618492
1781	DYNC1I2	HP:0000252	Microcephaly	5/5	OMIM:618492
1781	DYNC1I2	HP:0001611	Hypernasal speech	-	OMIM:618492
1781	DYNC1I2	HP:0000340	Sloping forehead	-	OMIM:618492
1781	DYNC1I2	HP:0000463	Anteverted nares	3/3	OMIM:618492
1781	DYNC1I2	HP:0000448	Prominent nose	-	OMIM:618492
1781	DYNC1I2	HP:0000414	Bulbous nose	3/3	OMIM:618492
1781	DYNC1I2	HP:0000520	Proptosis	-	OMIM:618492
1781	DYNC1I2	HP:0000582	Upslanted palpebral fissure	3/3	OMIM:618492
1785	DNM2	HP:0002460	Distal muscle weakness	4/4	OMIM:160150
1785	DNM2	HP:0002460	Distal muscle weakness	20/20	OMIM:606482
1785	DNM2	HP:0010851	EEG with burst suppression	1/3	OMIM:615368
1785	DNM2	HP:0003738	Exercise-induced myalgia	HP:0040283	ORPHA:169189
1785	DNM2	HP:0003701	Proximal muscle weakness	3/4	OMIM:160150
1785	DNM2	HP:0003712	Skeletal muscle hypertrophy	0/1	OMIM:160150
1785	DNM2	HP:0001290	Generalized hypotonia	-	OMIM:615368
1785	DNM2	HP:0001290	Generalized hypotonia	1/1	OMIM:160150
1785	DNM2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:169189
1785	DNM2	HP:0001270	Motor delay	-	OMIM:160150
1785	DNM2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:169189
1785	DNM2	HP:0001284	Areflexia	1/3	OMIM:615368
1785	DNM2	HP:0001284	Areflexia	13/14	OMIM:160150
1785	DNM2	HP:0001284	Areflexia	-	OMIM:606482
1785	DNM2	HP:0001252	Hypotonia	3/3	OMIM:615368
1785	DNM2	HP:0001265	Hyporeflexia	-	OMIM:606482
1785	DNM2	HP:0002522	Areflexia of lower limbs	HP:0040283	ORPHA:169189
1785	DNM2	HP:0002505	Loss of ambulation	1/4	OMIM:160150
1785	DNM2	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:169189
1785	DNM2	HP:0003803	Type 1 muscle fiber predominance	-	OMIM:160150
1785	DNM2	HP:0001371	Flexion contracture	3/3	OMIM:615368
1785	DNM2	HP:0001371	Flexion contracture	-	OMIM:160150
1785	DNM2	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:169189
1785	DNM2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:169189
1785	DNM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615368
1785	DNM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:160150
1785	DNM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:606482
1785	DNM2	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:169189
1785	DNM2	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040282	ORPHA:169189
1785	DNM2	HP:0008997	Proximal muscle weakness in upper limbs	1/1	OMIM:160150
1785	DNM2	HP:0008981	Calf muscle hypertrophy	HP:0040283	ORPHA:169189
1785	DNM2	HP:0008948	Proximal upper limb amyotrophy	1/1	OMIM:160150
1785	DNM2	HP:0001436	Abnormality of the foot musculature	HP:0040282	ORPHA:169189
1785	DNM2	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:169189
1785	DNM2	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:169189
1785	DNM2	HP:0003307	Hyperlordosis	-	OMIM:160150
1785	DNM2	HP:0002093	Respiratory insufficiency	3/3	OMIM:615368
1785	DNM2	HP:0002047	Malignant hyperthermia	HP:0040284	ORPHA:169189
1785	DNM2	HP:0003388	Easy fatigability	-	OMIM:160150
1785	DNM2	HP:0003383	Onion bulb formation	-	OMIM:606482
1785	DNM2	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:606482
1785	DNM2	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:169189
1785	DNM2	HP:0008180	Mildly elevated creatine kinase	1/1	OMIM:160150
1785	DNM2	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:169189
1785	DNM2	HP:0003481	Segmental peripheral demyelination/remyelination	-	OMIM:606482
1785	DNM2	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:169189
1785	DNM2	HP:0003458	EMG: myopathic abnormalities	-	OMIM:160150
1785	DNM2	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:169189
1785	DNM2	HP:0010546	Muscle fibrillation	1/1	OMIM:160150
1785	DNM2	HP:0010546	Muscle fibrillation	HP:0040282	ORPHA:169189
1785	DNM2	HP:0003593	Infantile onset	1/2	OMIM:160150
1785	DNM2	HP:0003577	Congenital onset	2/3	OMIM:160150
1785	DNM2	HP:0003577	Congenital onset	3/3	OMIM:615368
1785	DNM2	HP:0010628	Facial palsy	-	OMIM:160150
1785	DNM2	HP:0001048	Cavernous hemangioma	HP:0040283	ORPHA:169189
1785	DNM2	HP:0003693	Distal amyotrophy	20/20	OMIM:606482
1785	DNM2	HP:0003687	Centrally nucleated skeletal muscle fibers	HP:0040281	ORPHA:169189
1785	DNM2	HP:0003687	Centrally nucleated skeletal muscle fibers	5/6	OMIM:160150
1785	DNM2	HP:0003687	Centrally nucleated skeletal muscle fibers	1/2	OMIM:615368
1785	DNM2	HP:0003677	Slowly progressive	-	OMIM:160150
1785	DNM2	HP:0007126	Proximal amyotrophy	1/1	OMIM:160150
1785	DNM2	HP:0007107	Segmental peripheral demyelination	HP:0040283	OMIM:606482
1785	DNM2	HP:0003621	Juvenile onset	1/4	OMIM:160150
1785	DNM2	HP:0003621	Juvenile onset	-	OMIM:606482
1785	DNM2	HP:0009053	Distal lower limb muscle weakness	1/1	OMIM:160150
1785	DNM2	HP:0000762	Decreased nerve conduction velocity	2/2	OMIM:615368
1785	DNM2	HP:0000764	Peripheral axonal degeneration	-	OMIM:606482
1785	DNM2	HP:0011463	Childhood onset	3/4	OMIM:160150
1785	DNM2	HP:0012768	Neonatal asphyxia	HP:0040283	ORPHA:169189
1785	DNM2	HP:0100309	Subdural hemorrhage	1/3	OMIM:615368
1785	DNM2	HP:0004488	Macrocephaly at birth	HP:0040282	ORPHA:169189
1785	DNM2	HP:0000883	Thin ribs	HP:0040282	ORPHA:169189
1785	DNM2	HP:0000883	Thin ribs	3/3	OMIM:615368
1785	DNM2	HP:0040078	Axonal degeneration	-	OMIM:606482
1785	DNM2	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:615368
1785	DNM2	HP:0003236	Elevated circulating creatine kinase concentration	2/4	OMIM:160150
1785	DNM2	HP:0100284	EMG: myotonic discharges	1/1	OMIM:160150
1785	DNM2	HP:0002803	Congenital contracture	-	OMIM:615368
1785	DNM2	HP:0030007	EMG: positive sharp waves	1/1	OMIM:160150
1785	DNM2	HP:0001561	Polyhydramnios	3/3	OMIM:615368
1785	DNM2	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:169189
1785	DNM2	HP:0001558	Decreased fetal movement	3/3	OMIM:615368
1785	DNM2	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:169189
1785	DNM2	HP:0001522	Death in infancy	3/3	OMIM:615368
1785	DNM2	HP:0001520	Large for gestational age	HP:0040282	ORPHA:169189
1785	DNM2	HP:0001518	Small for gestational age	3/3	OMIM:615368
1785	DNM2	HP:0005268	Miscarriage	HP:0040282	ORPHA:169189
1785	DNM2	HP:0002938	Lumbar hyperlordosis	2/4	OMIM:160150
1785	DNM2	HP:0002936	Distal sensory impairment	-	OMIM:606482
1785	DNM2	HP:0030319	Weakness of facial musculature	2/4	OMIM:160150
1785	DNM2	HP:0005335	Sleepy facial expression	-	OMIM:160150
1785	DNM2	HP:0000467	Neck muscle weakness	3/4	OMIM:160150
1785	DNM2	HP:0001771	Achilles tendon contracture	2/4	OMIM:160150
1785	DNM2	HP:0001761	Pes cavus	-	OMIM:606482
1785	DNM2	HP:0000508	Ptosis	12/14	OMIM:160150
1785	DNM2	HP:0000508	Ptosis	HP:0040282	ORPHA:169189
1785	DNM2	HP:0000597	Ophthalmoparesis	3/4	OMIM:160150
1785	DNM2	HP:0000573	Retinal hemorrhage	3/3	OMIM:615368
1785	DNM2	HP:0000544	External ophthalmoplegia	HP:0040283	ORPHA:169189
1785	DNM2	HP:0000544	External ophthalmoplegia	-	OMIM:160150
1786	DNMT1	HP:0002494	Abnormal rapid eye movement sleep	4/4	OMIM:604121
1786	DNMT1	HP:0002460	Distal muscle weakness	2/18	OMIM:614116
1786	DNMT1	HP:0002476	Primitive reflex	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0002476	Primitive reflex	-	OMIM:604121
1786	DNMT1	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0001272	Cerebellar atrophy	-	OMIM:604121
1786	DNMT1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0025233	Sleep paralysis	1/4	OMIM:604121
1786	DNMT1	HP:0001251	Ataxia	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0001251	Ataxia	4/18	OMIM:614116
1786	DNMT1	HP:0001251	Ataxia	4/4	OMIM:604121
1786	DNMT1	HP:0001265	Hyporeflexia	-	OMIM:614116
1786	DNMT1	HP:0001262	Excessive daytime somnolence	-	OMIM:614116
1786	DNMT1	HP:0001262	Excessive daytime somnolence	4/4	OMIM:604121
1786	DNMT1	HP:0001257	Spasticity	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0001257	Spasticity	-	OMIM:604121
1786	DNMT1	HP:0007366	Atrophy/Degeneration affecting the brainstem	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0002519	Hypnagogic hallucination	2/4	OMIM:604121
1786	DNMT1	HP:0002529	Neuronal loss in central nervous system	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0002524	Cataplexy	4/4	OMIM:604121
1786	DNMT1	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0001347	Hyperreflexia	-	OMIM:604121
1786	DNMT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:604121
1786	DNMT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614116
1786	DNMT1	HP:0002754	Osteomyelitis	-	OMIM:614116
1786	DNMT1	HP:0031258	Delirium	-	OMIM:614116
1786	DNMT1	HP:0005978	Type II diabetes mellitus	2/4	OMIM:604121
1786	DNMT1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0002059	Cerebral atrophy	-	OMIM:614116
1786	DNMT1	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:614116
1786	DNMT1	HP:0003487	Babinski sign	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0003596	Middle age onset	2/4	OMIM:604121
1786	DNMT1	HP:0100710	Impulsivity	-	OMIM:614116
1786	DNMT1	HP:0003550	Predominantly lower limb lymphedema	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0003550	Predominantly lower limb lymphedema	2/4	OMIM:604121
1786	DNMT1	HP:0002200	Pseudobulbar signs	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0007082	Dilated third ventricle	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0003676	Progressive	-	OMIM:614116
1786	DNMT1	HP:0003676	Progressive	-	OMIM:604121
1786	DNMT1	HP:0002354	Memory impairment	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0002354	Memory impairment	-	OMIM:614116
1786	DNMT1	HP:0002354	Memory impairment	3/4	OMIM:604121
1786	DNMT1	HP:0002346	Head tremor	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0002322	Resting tremor	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0000639	Nystagmus	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:314404
1786	DNMT1	HP:0000648	Optic atrophy	4/4	OMIM:604121
1786	DNMT1	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0000763	Sensory neuropathy	18/18	OMIM:614116
1786	DNMT1	HP:0000763	Sensory neuropathy	4/4	OMIM:604121
1786	DNMT1	HP:0000737	Irritability	-	OMIM:614116
1786	DNMT1	HP:0000741	Apathy	-	OMIM:614116
1786	DNMT1	HP:0000716	Depression	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0000716	Depression	3/4	OMIM:604121
1786	DNMT1	HP:0000726	Dementia	-	OMIM:614116
1786	DNMT1	HP:0000726	Dementia	2/4	OMIM:604121
1786	DNMT1	HP:0000709	Psychosis	3/4	OMIM:604121
1786	DNMT1	HP:0011462	Young adult onset	18/18	OMIM:614116
1786	DNMT1	HP:0011462	Young adult onset	2/4	OMIM:604121
1786	DNMT1	HP:0003287	Abnormality of mitochondrial metabolism	HP:0040282	ORPHA:314404
1786	DNMT1	HP:0030050	Narcolepsy	HP:0040281	ORPHA:314404
1786	DNMT1	HP:0030050	Narcolepsy	4/4	OMIM:604121
1786	DNMT1	HP:0002921	Abnormal cerebrospinal fluid morphology	HP:0040283	ORPHA:314404
1786	DNMT1	HP:0000365	Hearing impairment	16/18	OMIM:614116
1786	DNMT1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:314404
1786	DNMT1	HP:0000407	Sensorineural hearing impairment	-	OMIM:614116
1786	DNMT1	HP:0000407	Sensorineural hearing impairment	4/4	OMIM:604121
1786	DNMT1	HP:0000518	Cataract	HP:0040283	ORPHA:314404
1788	DNMT3A	HP:0025116	Fetal distress	1/1	OMIM:615879
1788	DNMT3A	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0007302	Bipolar affective disorder	HP:0040284	ORPHA:404443
1788	DNMT3A	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:404443
1788	DNMT3A	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1788	DNMT3A	HP:0025269	Panic attack	HP:0040283	ORPHA:276621
1788	DNMT3A	HP:0001293	Cranial nerve compression	-	OMIM:131300
1788	DNMT3A	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:276621
1788	DNMT3A	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:404443
1788	DNMT3A	HP:0001250	Seizure	HP:0040283	ORPHA:404443
1788	DNMT3A	HP:0001250	Seizure	2/13	OMIM:615879
1788	DNMT3A	HP:0001252	Hypotonia	1/1	OMIM:615879
1788	DNMT3A	HP:0001252	Hypotonia	2/7	OMIM:615777
1788	DNMT3A	HP:0001249	Intellectual disability	13/13	OMIM:615879
1788	DNMT3A	HP:0001249	Intellectual disability	5/7	OMIM:615777
1788	DNMT3A	HP:0001263	Global developmental delay	-	OMIM:618724
1788	DNMT3A	HP:0001263	Global developmental delay	1/1	OMIM:615879
1788	DNMT3A	HP:0001263	Global developmental delay	-	OMIM:615777
1788	DNMT3A	HP:0001230	Broad metacarpals	-	OMIM:618724
1788	DNMT3A	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0006009	Broad phalanx	-	OMIM:618724
1788	DNMT3A	HP:0002515	Waddling gait	54/102	OMIM:131300
1788	DNMT3A	HP:0000098	Tall stature	11/13	OMIM:615879
1788	DNMT3A	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0000093	Proteinuria	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0000076	Vesicoureteral reflux	1/13	OMIM:615879
1788	DNMT3A	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:404443
1788	DNMT3A	HP:0001382	Joint hypermobility	-	OMIM:615777
1788	DNMT3A	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1788	DNMT3A	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:404443
1788	DNMT3A	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1788	DNMT3A	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1788	DNMT3A	HP:0001324	Muscle weakness	40/96	OMIM:131300
1788	DNMT3A	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1788	DNMT3A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1788	DNMT3A	HP:0002668	Paraganglioma	HP:0040281	ORPHA:276621
1788	DNMT3A	HP:0001337	Tremor	HP:0040283	ORPHA:276621
1788	DNMT3A	HP:0000006	Autosomal dominant inheritance	-	OMIM:615879
1788	DNMT3A	HP:0000006	Autosomal dominant inheritance	-	OMIM:618724
1788	DNMT3A	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1788	DNMT3A	HP:0000006	Autosomal dominant inheritance	-	OMIM:601626
1788	DNMT3A	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0002650	Scoliosis	4/13	OMIM:615879
1788	DNMT3A	HP:0002650	Scoliosis	12/14	OMIM:131300
1788	DNMT3A	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1788	DNMT3A	HP:0002616	Aortic root aneurysm	HP:0040284	ORPHA:404443
1788	DNMT3A	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1788	DNMT3A	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1788	DNMT3A	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1788	DNMT3A	HP:0000175	Cleft palate	2/7	OMIM:615777
1788	DNMT3A	HP:0008947	Floppy infant	HP:0040282	ORPHA:404443
1788	DNMT3A	HP:0031284	Flushing	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0001442	Typified by somatic mosaicism	-	OMIM:601626
1788	DNMT3A	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:404443
1788	DNMT3A	HP:0004684	Talipes valgus	1/1	OMIM:615879
1788	DNMT3A	HP:0002018	Nausea	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0002002	Deep philtrum	1/1	OMIM:615879
1788	DNMT3A	HP:0002002	Deep philtrum	HP:0040284	ORPHA:404443
1788	DNMT3A	HP:0002000	Short columella	1/1	OMIM:615879
1788	DNMT3A	HP:0002000	Short columella	HP:0040284	ORPHA:404443
1788	DNMT3A	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0003388	Easy fatigability	36/76	OMIM:131300
1788	DNMT3A	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1788	DNMT3A	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0010499	Patellar subluxation	1/13	OMIM:615879
1788	DNMT3A	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:404443
1788	DNMT3A	HP:0002119	Ventriculomegaly	1/13	OMIM:615879
1788	DNMT3A	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0002263	Exaggerated cupid's bow	1/1	OMIM:615879
1788	DNMT3A	HP:0003577	Congenital onset	1/1	OMIM:615879
1788	DNMT3A	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0100749	Chest pain	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0100753	Schizophrenia	HP:0040283	ORPHA:404443
1788	DNMT3A	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0003510	Severe short stature	7/7	OMIM:615777
1788	DNMT3A	HP:0003510	Severe short stature	3/3	OMIM:618724
1788	DNMT3A	HP:0003508	Proportionate short stature	HP:0040284	ORPHA:404443
1788	DNMT3A	HP:0007099	Chiari type I malformation	1/1	OMIM:615879
1788	DNMT3A	HP:0004808	Acute myeloid leukemia	-	OMIM:601626
1788	DNMT3A	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0002376	Developmental regression	HP:0040283	ORPHA:404443
1788	DNMT3A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/1	OMIM:615879
1788	DNMT3A	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:404443
1788	DNMT3A	HP:0002315	Headache	-	OMIM:131300
1788	DNMT3A	HP:0004976	Knee dislocation	6/7	OMIM:615777
1788	DNMT3A	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0010803	Everted upper lip vermilion	1/1	OMIM:615879
1788	DNMT3A	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0009803	Short phalanx of finger	-	OMIM:615777
1788	DNMT3A	HP:0009803	Short phalanx of finger	-	OMIM:618724
1788	DNMT3A	HP:0100634	Neuroendocrine neoplasm	HP:0040284	ORPHA:404443
1788	DNMT3A	HP:0009763	Limb pain	63/92	OMIM:131300
1788	DNMT3A	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0002308	Chiari malformation	HP:0040283	ORPHA:404443
1788	DNMT3A	HP:0003621	Juvenile onset	-	OMIM:131300
1788	DNMT3A	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1788	DNMT3A	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1788	DNMT3A	HP:0001962	Palpitations	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:6001056	Out-toeing	-	OMIM:131300
1788	DNMT3A	HP:0000651	Diplopia	-	OMIM:131300
1788	DNMT3A	HP:0001956	Truncal obesity	2/7	OMIM:615777
1788	DNMT3A	HP:0000609	Optic nerve hypoplasia	-	OMIM:615879
1788	DNMT3A	HP:0001903	Anemia	HP:0040283	OMIM:131300
1788	DNMT3A	HP:0010049	Short metacarpal	-	OMIM:615777
1788	DNMT3A	HP:0010049	Short metacarpal	-	OMIM:618724
1788	DNMT3A	HP:0000678	Dental crowding	-	OMIM:615777
1788	DNMT3A	HP:0000670	Carious teeth	-	OMIM:131300
1788	DNMT3A	HP:0011304	Broad thumb	2/7	OMIM:615777
1788	DNMT3A	HP:0000668	Hypodontia	-	OMIM:615777
1788	DNMT3A	HP:0000664	Synophrys	-	OMIM:615777
1788	DNMT3A	HP:0004325	Decreased body weight	-	OMIM:618724
1788	DNMT3A	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0004396	Poor appetite	-	OMIM:131300
1788	DNMT3A	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1788	DNMT3A	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1788	DNMT3A	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1788	DNMT3A	HP:0003026	Short long bone	7/7	OMIM:615777
1788	DNMT3A	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1788	DNMT3A	HP:0011407	Proportionate tall stature	HP:0040281	ORPHA:404443
1788	DNMT3A	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1788	DNMT3A	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1788	DNMT3A	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1788	DNMT3A	HP:0000739	Anxiety	HP:0040283	ORPHA:404443
1788	DNMT3A	HP:0000750	Delayed speech and language development	-	OMIM:618724
1788	DNMT3A	HP:0000750	Delayed speech and language development	-	OMIM:615777
1788	DNMT3A	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0000718	Aggressive behavior	HP:0040284	ORPHA:404443
1788	DNMT3A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:404443
1788	DNMT3A	HP:0011461	Fetal onset	7/7	OMIM:615777
1788	DNMT3A	HP:0000774	Narrow chest	2/7	OMIM:615777
1788	DNMT3A	HP:0000790	Hematuria	HP:0040283	ORPHA:276621
1788	DNMT3A	HP:0004442	Sagittal craniosynostosis	1/13	OMIM:615879
1788	DNMT3A	HP:0000926	Platyspondyly	1/7	OMIM:615777
1788	DNMT3A	HP:0003180	Flat acetabular roof	-	OMIM:615777
1788	DNMT3A	HP:0004482	Relative macrocephaly	-	OMIM:615777
1788	DNMT3A	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1788	DNMT3A	HP:0000878	11 pairs of ribs	1/3	OMIM:618724
1788	DNMT3A	HP:0000823	Delayed puberty	-	OMIM:131300
1788	DNMT3A	HP:0000894	Short clavicles	-	OMIM:615777
1788	DNMT3A	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1788	DNMT3A	HP:0000980	Pallor	HP:0040283	ORPHA:276621
1788	DNMT3A	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1788	DNMT3A	HP:0045025	Narrow palpebral fissure	11/11	OMIM:615879
1788	DNMT3A	HP:0045025	Narrow palpebral fissure	HP:0040283	ORPHA:404443
1788	DNMT3A	HP:0008094	Widely spaced toes	HP:0040283	ORPHA:404443
1788	DNMT3A	HP:0008070	Sparse hair	-	OMIM:618724
1788	DNMT3A	HP:0011688	Supraventricular tachycardia with an accessory connection mediated pathway	HP:0040284	ORPHA:404443
1788	DNMT3A	HP:0040197	Encephalomalacia	-	OMIM:615879
1788	DNMT3A	HP:0000286	Epicanthus	1/1	OMIM:615879
1788	DNMT3A	HP:0000286	Epicanthus	-	OMIM:618724
1788	DNMT3A	HP:0000286	Epicanthus	1/7	OMIM:615777
1788	DNMT3A	HP:0000280	Coarse facial features	HP:0040283	ORPHA:404443
1788	DNMT3A	HP:0000280	Coarse facial features	2/7	OMIM:615777
1788	DNMT3A	HP:0000256	Macrocephaly	HP:0040281	ORPHA:404443
1788	DNMT3A	HP:0000256	Macrocephaly	7/12	OMIM:615879
1788	DNMT3A	HP:0002827	Hip dislocation	3/7	OMIM:615777
1788	DNMT3A	HP:0001566	Widely-spaced maxillary central incisors	HP:0040283	ORPHA:404443
1788	DNMT3A	HP:0000252	Microcephaly	3/3	OMIM:618724
1788	DNMT3A	HP:0000252	Microcephaly	-	OMIM:615777
1788	DNMT3A	HP:0001548	Overgrowth	1/1	OMIM:615879
1788	DNMT3A	HP:0000233	Thin vermilion border	1/1	OMIM:615879
1788	DNMT3A	HP:0001528	Hemihypertrophy	1/13	OMIM:615879
1788	DNMT3A	HP:0002857	Genu valgum	-	OMIM:131300
1788	DNMT3A	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:404443
1788	DNMT3A	HP:0001537	Umbilical hernia	3/14	OMIM:615879
1788	DNMT3A	HP:0001533	Slender build	-	OMIM:131300
1788	DNMT3A	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1788	DNMT3A	HP:0001511	Intrauterine growth retardation	-	OMIM:618724
1788	DNMT3A	HP:0001513	Obesity	HP:0040282	ORPHA:404443
1788	DNMT3A	HP:0007807	Optic nerve compression	-	OMIM:131300
1788	DNMT3A	HP:0012378	Fatigue	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0012368	Flat face	7/7	OMIM:615777
1788	DNMT3A	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1788	DNMT3A	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:276621
1788	DNMT3A	HP:0001618	Dysphonia	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0005180	Tricuspid regurgitation	1/13	OMIM:615879
1788	DNMT3A	HP:0005180	Tricuspid regurgitation	HP:0040284	ORPHA:404443
1788	DNMT3A	HP:0000365	Hearing impairment	10/67	OMIM:131300
1788	DNMT3A	HP:0000343	Long philtrum	1/7	OMIM:615777
1788	DNMT3A	HP:0012324	Myeloid leukemia	HP:0040284	ORPHA:404443
1788	DNMT3A	HP:0011001	Increased bone mineral density	-	OMIM:131300
1788	DNMT3A	HP:0000337	Broad forehead	-	OMIM:618724
1788	DNMT3A	HP:0000316	Hypertelorism	HP:0040284	ORPHA:404443
1788	DNMT3A	HP:0000316	Hypertelorism	1/1	OMIM:615879
1788	DNMT3A	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:404443
1788	DNMT3A	HP:0000311	Round face	11/11	OMIM:615879
1788	DNMT3A	HP:0000311	Round face	HP:0040283	ORPHA:404443
1788	DNMT3A	HP:0000311	Round face	2/7	OMIM:615777
1788	DNMT3A	HP:0001653	Mitral regurgitation	1/13	OMIM:615879
1788	DNMT3A	HP:0001653	Mitral regurgitation	HP:0040284	ORPHA:404443
1788	DNMT3A	HP:0001629	Ventricular septal defect	1/1	OMIM:615879
1788	DNMT3A	HP:0002970	Genu varum	-	OMIM:615777
1788	DNMT3A	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:276621
1788	DNMT3A	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:404443
1788	DNMT3A	HP:0001631	Atrial septal defect	2/13	OMIM:615879
1788	DNMT3A	HP:0000303	Mandibular prognathia	HP:0040284	ORPHA:404443
1788	DNMT3A	HP:0000303	Mandibular prognathia	-	OMIM:131300
1788	DNMT3A	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:276621
1788	DNMT3A	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1788	DNMT3A	HP:0000486	Strabismus	-	OMIM:618724
1788	DNMT3A	HP:0000463	Anteverted nares	1/1	OMIM:615879
1788	DNMT3A	HP:0000470	Short neck	1/7	OMIM:615777
1788	DNMT3A	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1788	DNMT3A	HP:0001763	Pes planus	1/7	OMIM:615777
1788	DNMT3A	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:276621
1788	DNMT3A	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:276621
1788	DNMT3A	HP:0001840	Metatarsus adductus	-	OMIM:615777
1788	DNMT3A	HP:0000520	Proptosis	2/4	OMIM:131300
1788	DNMT3A	HP:0000520	Proptosis	7/7	OMIM:615777
1788	DNMT3A	HP:0001824	Weight loss	HP:0040282	ORPHA:276621
1788	DNMT3A	HP:0001831	Short toe	HP:0040283	ORPHA:404443
1788	DNMT3A	HP:0000581	Blepharophimosis	-	OMIM:615879
1788	DNMT3A	HP:0000592	Blue sclerae	2/7	OMIM:615777
1788	DNMT3A	HP:0011228	Horizontal eyebrow	1/1	OMIM:615879
1788	DNMT3A	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:404443
1788	DNMT3A	HP:0000574	Thick eyebrow	-	OMIM:615879
1788	DNMT3A	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1788	DNMT3A	HP:0012514	Lower limb pain	4/4	OMIM:131300
1789	DNMT3B	HP:0001288	Gait disturbance	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0001250	Seizure	HP:0040283	ORPHA:269
1789	DNMT3B	HP:0001249	Intellectual disability	-	OMIM:242860
1789	DNMT3B	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2268
1789	DNMT3B	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2268
1789	DNMT3B	HP:0010984	Digenic inheritance	-	OMIM:619478
1789	DNMT3B	HP:0012037	Pectoralis amyotrophy	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0000007	Autosomal recessive inheritance	-	OMIM:242860
1789	DNMT3B	HP:0001334	Communicating hydrocephalus	HP:0040282	ORPHA:2268
1789	DNMT3B	HP:0002650	Scoliosis	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0000158	Macroglossia	HP:0040283	ORPHA:2268
1789	DNMT3B	HP:0000158	Macroglossia	-	OMIM:242860
1789	DNMT3B	HP:0008959	Distal upper limb muscle weakness	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0002720	Decreased circulating IgA concentration	-	OMIM:242860
1789	DNMT3B	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:2268
1789	DNMT3B	HP:0002721	Immunodeficiency	-	OMIM:242860
1789	DNMT3B	HP:0002024	Malabsorption	HP:0040282	ORPHA:2268
1789	DNMT3B	HP:0002024	Malabsorption	-	OMIM:242860
1789	DNMT3B	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0002014	Diarrhea	-	OMIM:242860
1789	DNMT3B	HP:0004673	Decreased facial expression	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0003307	Hyperlordosis	HP:0040281	ORPHA:269
1789	DNMT3B	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:269
1789	DNMT3B	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:269
1789	DNMT3B	HP:0002090	Pneumonia	-	OMIM:242860
1789	DNMT3B	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0003376	Steppage gait	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0100595	Camptocormia	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0003484	Upper limb muscle weakness	-	OMIM:619478
1789	DNMT3B	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0002110	Bronchiectasis	-	OMIM:242860
1789	DNMT3B	HP:0003496	Increased circulating IgM level	-	OMIM:242860
1789	DNMT3B	HP:0003581	Adult onset	-	OMIM:619478
1789	DNMT3B	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:2268
1789	DNMT3B	HP:0003691	Scapular winging	HP:0040281	ORPHA:269
1789	DNMT3B	HP:0002359	Frequent falls	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0010808	Protruding tongue	-	OMIM:242860
1789	DNMT3B	HP:0010808	Protruding tongue	HP:0040283	ORPHA:2268
1789	DNMT3B	HP:0001903	Anemia	HP:0040282	ORPHA:2268
1789	DNMT3B	HP:0009023	Abdominal wall muscle weakness	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0004322	Short stature	-	OMIM:242860
1789	DNMT3B	HP:0004322	Short stature	HP:0040281	ORPHA:2268
1789	DNMT3B	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:2268
1789	DNMT3B	HP:0030664	Beevor's sign	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0003196	Short nose	20/20	OMIM:242860
1789	DNMT3B	HP:0004469	Chronic bronchitis	-	OMIM:242860
1789	DNMT3B	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:269
1789	DNMT3B	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:2268
1789	DNMT3B	HP:0040218	Reduced total natural killer cell count	-	OMIM:242860
1789	DNMT3B	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:269
1789	DNMT3B	HP:0008046	Abnormal retinal vascular morphology	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0000286	Epicanthus	-	OMIM:242860
1789	DNMT3B	HP:0000286	Epicanthus	HP:0040283	ORPHA:2268
1789	DNMT3B	HP:0000298	Mask-like facies	HP:0040281	ORPHA:269
1789	DNMT3B	HP:0000256	Macrocephaly	HP:0040282	ORPHA:2268
1789	DNMT3B	HP:0000272	Malar flattening	-	OMIM:242860
1789	DNMT3B	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:269
1789	DNMT3B	HP:0000246	Sinusitis	-	OMIM:242860
1789	DNMT3B	HP:0030002	Nocturnal lagophthalmos	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2268
1789	DNMT3B	HP:0001538	Protuberant abdomen	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0001508	Failure to thrive	-	OMIM:242860
1789	DNMT3B	HP:0012368	Flat face	HP:0040283	ORPHA:2268
1789	DNMT3B	HP:0012368	Flat face	-	OMIM:242860
1789	DNMT3B	HP:0006587	Straight clavicles	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0007898	Exudative retinopathy	HP:0040283	ORPHA:269
1789	DNMT3B	HP:0000369	Low-set ears	-	OMIM:242860
1789	DNMT3B	HP:0000369	Low-set ears	HP:0040283	ORPHA:2268
1789	DNMT3B	HP:0000347	Micrognathia	-	OMIM:242860
1789	DNMT3B	HP:0000347	Micrognathia	HP:0040281	ORPHA:2268
1789	DNMT3B	HP:0000316	Hypertelorism	-	OMIM:242860
1789	DNMT3B	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2268
1789	DNMT3B	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0030319	Weakness of facial musculature	-	OMIM:619478
1789	DNMT3B	HP:0005374	Cellular immunodeficiency	HP:0040282	ORPHA:2268
1789	DNMT3B	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0005280	Depressed nasal bridge	-	OMIM:242860
1789	DNMT3B	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:2268
1789	DNMT3B	HP:0000491	Keratitis	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0000463	Anteverted nares	-	OMIM:242860
1789	DNMT3B	HP:0005403	Decreased total T cell count	-	OMIM:242860
1789	DNMT3B	HP:0000509	Conjunctivitis	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:2268
1789	DNMT3B	HP:0000572	Visual loss	HP:0040283	ORPHA:269
1789	DNMT3B	HP:0012532	Chronic pain	HP:0040282	ORPHA:269
1789	DNMT3B	HP:0000541	Retinal detachment	HP:0040283	ORPHA:269
1789	DNMT3B	HP:0001874	Abnormality of neutrophils	HP:0040282	ORPHA:2268
1794	DOCK2	HP:0032253	Eosinophilic granuloma	1/5	OMIM:616433
1794	DOCK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616433
1794	DOCK2	HP:0001403	Macrovesicular hepatic steatosis	1/5	OMIM:616433
1794	DOCK2	HP:0002028	Chronic diarrhea	1/5	OMIM:616433
1794	DOCK2	HP:0100590	Rectal fistula	1/5	OMIM:616433
1794	DOCK2	HP:0033164	Focal active colitis	1/5	OMIM:616433
1794	DOCK2	HP:0002113	Pulmonary infiltrates	1/5	OMIM:616433
1794	DOCK2	HP:0003593	Infantile onset	4/5	OMIM:616433
1794	DOCK2	HP:0002240	Hepatomegaly	1/5	OMIM:616433
1794	DOCK2	HP:0002254	Intermittent diarrhea	1/5	OMIM:616433
1794	DOCK2	HP:0011947	Respiratory tract infection	1/5	OMIM:616433
1794	DOCK2	HP:0032170	Severe varicella zoster infection	1/5	OMIM:616433
1794	DOCK2	HP:0003623	Neonatal onset	1/5	OMIM:616433
1794	DOCK2	HP:0009098	Chronic oral candidiasis	1/5	OMIM:616433
1794	DOCK2	HP:0001954	Recurrent fever	1/5	OMIM:616433
1794	DOCK2	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/5	OMIM:616433
1794	DOCK2	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/5	OMIM:616433
1794	DOCK2	HP:0031402	Reduced antigen-specific T cell proliferation	1/5	OMIM:616433
1794	DOCK2	HP:0001510	Growth delay	1/5	OMIM:616433
1794	DOCK2	HP:0006532	Recurrent pneumonia	2/5	OMIM:616433
1794	DOCK2	HP:0006515	Interstitial pneumonitis	1/5	OMIM:616433
1794	DOCK2	HP:0005387	Combined immunodeficiency	-	OMIM:616433
1794	DOCK2	HP:0000403	Recurrent otitis media	1/5	OMIM:616433
1794	DOCK2	HP:0005403	Decreased total T cell count	3/5	OMIM:616433
1794	DOCK2	HP:0001873	Thrombocytopenia	1/5	OMIM:616433
1795	DOCK3	HP:0001182	Tapered finger	-	OMIM:618292
1795	DOCK3	HP:0100807	Long fingers	1/2	OMIM:618292
1795	DOCK3	HP:0001252	Hypotonia	2/2	OMIM:618292
1795	DOCK3	HP:0001265	Hyporeflexia	-	OMIM:618292
1795	DOCK3	HP:0001263	Global developmental delay	2/2	OMIM:618292
1795	DOCK3	HP:0001344	Absent speech	1/2	OMIM:618292
1795	DOCK3	HP:0000007	Autosomal recessive inheritance	-	OMIM:618292
1795	DOCK3	HP:0001315	Reduced tendon reflexes	1/2	OMIM:618292
1795	DOCK3	HP:0002066	Gait ataxia	2/2	OMIM:618292
1795	DOCK3	HP:0003593	Infantile onset	2/2	OMIM:618292
1795	DOCK3	HP:0003502	Mild short stature	-	OMIM:618292
1795	DOCK3	HP:0002317	Unsteady gait	1/2	OMIM:618292
1795	DOCK3	HP:0000689	Dental malocclusion	1/2	OMIM:618292
1795	DOCK3	HP:0031936	Delayed ability to walk	2/2	OMIM:618292
1795	DOCK3	HP:0004482	Relative macrocephaly	1/2	OMIM:618292
1795	DOCK3	HP:0000286	Epicanthus	-	OMIM:618292
1795	DOCK3	HP:0000276	Long face	1/2	OMIM:618292
1795	DOCK3	HP:0000218	High palate	1/2	OMIM:618292
1795	DOCK3	HP:0000307	Pointed chin	1/2	OMIM:618292
1795	DOCK3	HP:0000303	Mandibular prognathia	1/2	OMIM:618292
1795	DOCK3	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:618292
1795	DOCK3	HP:0000463	Anteverted nares	-	OMIM:618292
1798	DPAGT1	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0002460	Distal muscle weakness	HP:0040284	ORPHA:353327
1798	DPAGT1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:86309
1798	DPAGT1	HP:0002421	Poor head control	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0002401	Stroke-like episode	HP:0040284	ORPHA:86309
1798	DPAGT1	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:353327
1798	DPAGT1	HP:0003701	Proximal muscle weakness	5/5	OMIM:614750
1798	DPAGT1	HP:0001290	Generalized hypotonia	-	OMIM:608093
1798	DPAGT1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:353327
1798	DPAGT1	HP:0001276	Hypertonia	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0001276	Hypertonia	-	OMIM:608093
1798	DPAGT1	HP:0001270	Motor delay	-	OMIM:614750
1798	DPAGT1	HP:0001270	Motor delay	HP:0040282	ORPHA:353327
1798	DPAGT1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0001284	Areflexia	HP:0040282	ORPHA:353327
1798	DPAGT1	HP:0001250	Seizure	-	OMIM:608093
1798	DPAGT1	HP:0001250	Seizure	HP:0040282	ORPHA:86309
1798	DPAGT1	HP:0001252	Hypotonia	1/1	OMIM:608093
1798	DPAGT1	HP:0001252	Hypotonia	-	OMIM:614750
1798	DPAGT1	HP:0001251	Ataxia	HP:0040284	ORPHA:86309
1798	DPAGT1	HP:0001249	Intellectual disability	-	OMIM:608093
1798	DPAGT1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0001263	Global developmental delay	1/1	OMIM:608093
1798	DPAGT1	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0002540	Inability to walk	HP:0040284	ORPHA:86309
1798	DPAGT1	HP:0002521	Hypsarrhythmia	1/1	OMIM:608093
1798	DPAGT1	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:86309
1798	DPAGT1	HP:0002515	Waddling gait	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0003803	Type 1 muscle fiber predominance	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0012050	Anasarca	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0001371	Flexion contracture	HP:0040283	OMIM:608093
1798	DPAGT1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0001347	Hyperreflexia	-	OMIM:608093
1798	DPAGT1	HP:0000028	Cryptorchidism	HP:0040283	OMIM:608093
1798	DPAGT1	HP:0001344	Absent speech	HP:0040284	ORPHA:86309
1798	DPAGT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608093
1798	DPAGT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614750
1798	DPAGT1	HP:0001337	Tremor	HP:0040283	OMIM:608093
1798	DPAGT1	HP:0001337	Tremor	HP:0040284	ORPHA:86309
1798	DPAGT1	HP:0002650	Scoliosis	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0002650	Scoliosis	2/5	OMIM:614750
1798	DPAGT1	HP:0002650	Scoliosis	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0012172	Stereotypical body rocking	HP:0040284	ORPHA:86309
1798	DPAGT1	HP:0012168	Head-banging	HP:0040284	ORPHA:86309
1798	DPAGT1	HP:0008947	Floppy infant	HP:0040282	ORPHA:86309
1798	DPAGT1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:353327
1798	DPAGT1	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0002093	Respiratory insufficiency	HP:0040283	OMIM:608093
1798	DPAGT1	HP:0003394	Muscle spasm	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0003391	Gowers sign	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0003388	Easy fatigability	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0003473	Fatigable weakness	-	OMIM:614750
1798	DPAGT1	HP:0003473	Fatigable weakness	HP:0040282	ORPHA:353327
1798	DPAGT1	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0003429	CNS hypomyelination	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0002104	Apnea	HP:0040283	OMIM:608093
1798	DPAGT1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	-	OMIM:614750
1798	DPAGT1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040282	ORPHA:353327
1798	DPAGT1	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0003593	Infantile onset	1/1	OMIM:608093
1798	DPAGT1	HP:0003593	Infantile onset	2/5	OMIM:614750
1798	DPAGT1	HP:0003577	Congenital onset	-	OMIM:608093
1798	DPAGT1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0004855	Reduced protein S activity	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0200134	Epileptic encephalopathy	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0010628	Facial palsy	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0003691	Scapular winging	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0002359	Frequent falls	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:86309
1798	DPAGT1	HP:0003677	Slowly progressive	-	OMIM:614750
1798	DPAGT1	HP:0010845	EEG with generalized slow activity	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0001072	Thickened skin	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0010781	Skin dimple	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0010781	Skin dimple	-	OMIM:608093
1798	DPAGT1	HP:0003642	Type I transferrin isoform profile	1/1	OMIM:608093
1798	DPAGT1	HP:0002304	Akinesia	HP:0040284	ORPHA:86309
1798	DPAGT1	HP:0004209	Clinodactyly of the 5th finger	1/1	OMIM:608093
1798	DPAGT1	HP:0000639	Nystagmus	-	OMIM:608093
1798	DPAGT1	HP:0000639	Nystagmus	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0001976	Reduced antithrombin III activity	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0001976	Reduced antithrombin III activity	HP:0040283	OMIM:608093
1798	DPAGT1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0001903	Anemia	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0009046	Difficulty running	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0009028	Generalized weakness of limb muscles	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0000662	Nyctalopia	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0001989	Fetal akinesia sequence	HP:0040284	ORPHA:86309
1798	DPAGT1	HP:0003075	Hypoproteinemia	HP:0040283	OMIM:608093
1798	DPAGT1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0000718	Aggressive behavior	HP:0040283	OMIM:608093
1798	DPAGT1	HP:0000717	Autism	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0011463	Childhood onset	3/5	OMIM:614750
1798	DPAGT1	HP:0009125	Lipodystrophy	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:86309
1798	DPAGT1	HP:0003198	Myopathy	HP:0040282	ORPHA:353327
1798	DPAGT1	HP:0100301	Muscle fiber tubular inclusions	4/4	OMIM:614750
1798	DPAGT1	HP:0100301	Muscle fiber tubular inclusions	HP:0040282	ORPHA:353327
1798	DPAGT1	HP:0003186	Inverted nipples	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0003186	Inverted nipples	-	OMIM:608093
1798	DPAGT1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0003200	Ragged-red muscle fibers	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0000954	Single transverse palmar crease	1/1	OMIM:608093
1798	DPAGT1	HP:0000952	Jaundice	HP:0040283	OMIM:608093
1798	DPAGT1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0030084	Clinodactyly	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0025534	Ocular melanocytosis	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0000252	Microcephaly	1/1	OMIM:608093
1798	DPAGT1	HP:0000252	Microcephaly	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0000218	High palate	HP:0040282	ORPHA:353327
1798	DPAGT1	HP:0001558	Decreased fetal movement	HP:0040284	ORPHA:86309
1798	DPAGT1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:86309
1798	DPAGT1	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0012385	Camptodactyly	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0030205	Increased jitter at single fiber EMG	4/4	OMIM:614750
1798	DPAGT1	HP:0030205	Increased jitter at single fiber EMG	HP:0040282	ORPHA:353327
1798	DPAGT1	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	HP:0040282	ORPHA:353327
1798	DPAGT1	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0030191	Abnormal peripheral nervous system synaptic transmission	HP:0040282	ORPHA:353327
1798	DPAGT1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:86309
1798	DPAGT1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	OMIM:608093
1798	DPAGT1	HP:0000365	Hearing impairment	HP:0040284	ORPHA:86309
1798	DPAGT1	HP:0000347	Micrognathia	-	OMIM:608093
1798	DPAGT1	HP:0001657	Prolonged QT interval	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0011153	Focal motor seizure	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0000483	Astigmatism	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0000486	Strabismus	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0030213	Emotional dearth	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0012469	Infantile spasms	1/1	OMIM:608093
1798	DPAGT1	HP:0001763	Pes planus	HP:0040282	ORPHA:353327
1798	DPAGT1	HP:0000518	Cataract	-	OMIM:608093
1798	DPAGT1	HP:0000519	Developmental cataract	HP:0040282	ORPHA:86309
1798	DPAGT1	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0000508	Ptosis	1/5	OMIM:614750
1798	DPAGT1	HP:0000508	Ptosis	HP:0040283	ORPHA:353327
1798	DPAGT1	HP:0000577	Exotropia	1/1	OMIM:608093
1798	DPAGT1	HP:0000577	Exotropia	HP:0040283	ORPHA:86309
1798	DPAGT1	HP:0012512	Diffuse optic disc pallor	HP:0040283	ORPHA:86309
1801	DPH1	HP:0007291	Posterior fossa cyst	HP:0040282	ORPHA:459061
1801	DPH1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:459061
1801	DPH1	HP:0001250	Seizure	HP:0040283	ORPHA:459061
1801	DPH1	HP:0001249	Intellectual disability	8/8	OMIM:616901
1801	DPH1	HP:0001263	Global developmental delay	8/8	OMIM:616901
1801	DPH1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:459061
1801	DPH1	HP:0003819	Death in childhood	2/8	OMIM:616901
1801	DPH1	HP:0000093	Proteinuria	1/8	OMIM:616901
1801	DPH1	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:459061
1801	DPH1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:459061
1801	DPH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616901
1801	DPH1	HP:0001305	Dandy-Walker malformation	4/6	OMIM:616901
1801	DPH1	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:459061
1801	DPH1	HP:0001320	Cerebellar vermis hypoplasia	4/6	OMIM:616901
1801	DPH1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040282	ORPHA:459061
1801	DPH1	HP:0000175	Cleft palate	HP:0040283	ORPHA:459061
1801	DPH1	HP:0007598	Bilateral single transverse palmar creases	HP:0040283	ORPHA:459061
1801	DPH1	HP:0010535	Sleep apnea	HP:0040283	ORPHA:459061
1801	DPH1	HP:0003577	Congenital onset	8/8	OMIM:616901
1801	DPH1	HP:0002209	Sparse scalp hair	8/8	OMIM:616901
1801	DPH1	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:459061
1801	DPH1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:459061
1801	DPH1	HP:0200055	Small hand	HP:0040283	ORPHA:459061
1801	DPH1	HP:0001970	Tubulointerstitial nephritis	1/8	OMIM:616901
1801	DPH1	HP:0001970	Tubulointerstitial nephritis	HP:0040283	ORPHA:459061
1801	DPH1	HP:0000695	Natal tooth	1/8	OMIM:616901
1801	DPH1	HP:0000687	Widely spaced teeth	HP:0040283	ORPHA:459061
1801	DPH1	HP:0000653	Sparse eyelashes	8/8	OMIM:616901
1801	DPH1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:459061
1801	DPH1	HP:0004322	Short stature	-	OMIM:616901
1801	DPH1	HP:0004322	Short stature	HP:0040281	ORPHA:459061
1801	DPH1	HP:0000805	Enuresis	HP:0040283	ORPHA:459061
1801	DPH1	HP:0000739	Anxiety	HP:0040283	ORPHA:459061
1801	DPH1	HP:0012712	Mild hearing impairment	HP:0040283	ORPHA:459061
1801	DPH1	HP:0000790	Hematuria	1/8	OMIM:616901
1801	DPH1	HP:0004442	Sagittal craniosynostosis	1/8	OMIM:616901
1801	DPH1	HP:0004442	Sagittal craniosynostosis	HP:0040283	ORPHA:459061
1801	DPH1	HP:0030799	Scaphocephaly	8/8	OMIM:616901
1801	DPH1	HP:0030799	Scaphocephaly	HP:0040283	ORPHA:459061
1801	DPH1	HP:0004482	Relative macrocephaly	HP:0040283	ORPHA:459061
1801	DPH1	HP:0045075	Sparse eyebrow	8/8	OMIM:616901
1801	DPH1	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:459061
1801	DPH1	HP:0000286	Epicanthus	8/8	OMIM:616901
1801	DPH1	HP:0000286	Epicanthus	HP:0040283	ORPHA:459061
1801	DPH1	HP:0000243	Trigonocephaly	-	OMIM:616901
1801	DPH1	HP:0000243	Trigonocephaly	HP:0040282	ORPHA:459061
1801	DPH1	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:459061
1801	DPH1	HP:0000248	Brachycephaly	HP:0040283	ORPHA:459061
1801	DPH1	HP:0001522	Death in infancy	1/8	OMIM:616901
1801	DPH1	HP:0012385	Camptodactyly	HP:0040282	ORPHA:459061
1801	DPH1	HP:0000369	Low-set ears	8/8	OMIM:616901
1801	DPH1	HP:0000369	Low-set ears	HP:0040283	ORPHA:459061
1801	DPH1	HP:0000347	Micrognathia	8/8	OMIM:616901
1801	DPH1	HP:0000347	Micrognathia	HP:0040283	ORPHA:459061
1801	DPH1	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:459061
1801	DPH1	HP:0000316	Hypertelorism	8/8	OMIM:616901
1801	DPH1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:459061
1801	DPH1	HP:0001629	Ventricular septal defect	3/8	OMIM:616901
1801	DPH1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:459061
1801	DPH1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:459061
1801	DPH1	HP:0005280	Depressed nasal bridge	8/8	OMIM:616901
1801	DPH1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:459061
1801	DPH1	HP:0000494	Downslanted palpebral fissures	8/8	OMIM:616901
1801	DPH1	HP:0001763	Pes planus	1/8	OMIM:616901
1801	DPH1	HP:0001763	Pes planus	HP:0040282	ORPHA:459061
1801	DPH1	HP:0001800	Hypoplastic toenails	3/8	OMIM:616901
1801	DPH1	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:459061
1801	DPH1	HP:0011220	Prominent forehead	8/8	OMIM:616901
1801	DPH1	HP:0011220	Prominent forehead	HP:0040281	ORPHA:459061
1802	DPH2	HP:0001181	Adducted thumb	1/3	OMIM:620062
1802	DPH2	HP:0001156	Brachydactyly	1/3	OMIM:620062
1802	DPH2	HP:0009890	High anterior hairline	1/3	OMIM:620062
1802	DPH2	HP:0010862	Delayed fine motor development	1/3	OMIM:620062
1802	DPH2	HP:0007291	Posterior fossa cyst	HP:0040282	ORPHA:459061
1802	DPH2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:459061
1802	DPH2	HP:0001250	Seizure	HP:0040283	ORPHA:459061
1802	DPH2	HP:0001263	Global developmental delay	3/3	OMIM:620062
1802	DPH2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:459061
1802	DPH2	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:459061
1802	DPH2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:459061
1802	DPH2	HP:0000034	Hydrocele testis	1/3	OMIM:620062
1802	DPH2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620062
1802	DPH2	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:459061
1802	DPH2	HP:0001320	Cerebellar vermis hypoplasia	HP:0040282	ORPHA:459061
1802	DPH2	HP:0000175	Cleft palate	HP:0040283	ORPHA:459061
1802	DPH2	HP:0007598	Bilateral single transverse palmar creases	HP:0040283	ORPHA:459061
1802	DPH2	HP:0002194	Delayed gross motor development	3/3	OMIM:620062
1802	DPH2	HP:0010535	Sleep apnea	HP:0040283	ORPHA:459061
1802	DPH2	HP:0003593	Infantile onset	3/3	OMIM:620062
1802	DPH2	HP:0002209	Sparse scalp hair	3/3	OMIM:620062
1802	DPH2	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:459061
1802	DPH2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:459061
1802	DPH2	HP:0200055	Small hand	HP:0040283	ORPHA:459061
1802	DPH2	HP:0001970	Tubulointerstitial nephritis	HP:0040283	ORPHA:459061
1802	DPH2	HP:0000687	Widely spaced teeth	HP:0040283	ORPHA:459061
1802	DPH2	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:459061
1802	DPH2	HP:0004322	Short stature	3/3	OMIM:620062
1802	DPH2	HP:0004322	Short stature	HP:0040281	ORPHA:459061
1802	DPH2	HP:0000805	Enuresis	HP:0040283	ORPHA:459061
1802	DPH2	HP:0000739	Anxiety	HP:0040283	ORPHA:459061
1802	DPH2	HP:0012712	Mild hearing impairment	HP:0040283	ORPHA:459061
1802	DPH2	HP:0004442	Sagittal craniosynostosis	HP:0040283	ORPHA:459061
1802	DPH2	HP:0030799	Scaphocephaly	HP:0040283	ORPHA:459061
1802	DPH2	HP:0004482	Relative macrocephaly	HP:0040283	ORPHA:459061
1802	DPH2	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:459061
1802	DPH2	HP:0011623	Muscular ventricular septal defect	1/3	OMIM:620062
1802	DPH2	HP:0000954	Single transverse palmar crease	1/3	OMIM:620062
1802	DPH2	HP:0000286	Epicanthus	HP:0040283	ORPHA:459061
1802	DPH2	HP:0000256	Macrocephaly	1/3	OMIM:620062
1802	DPH2	HP:0000243	Trigonocephaly	HP:0040282	ORPHA:459061
1802	DPH2	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:459061
1802	DPH2	HP:0000252	Microcephaly	2/3	OMIM:620062
1802	DPH2	HP:0000248	Brachycephaly	HP:0040283	ORPHA:459061
1802	DPH2	HP:0012385	Camptodactyly	HP:0040282	ORPHA:459061
1802	DPH2	HP:0000369	Low-set ears	HP:0040283	ORPHA:459061
1802	DPH2	HP:0000369	Low-set ears	3/3	OMIM:620062
1802	DPH2	HP:0000347	Micrognathia	HP:0040283	ORPHA:459061
1802	DPH2	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:459061
1802	DPH2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:459061
1802	DPH2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:459061
1802	DPH2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:459061
1802	DPH2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:459061
1802	DPH2	HP:0001763	Pes planus	HP:0040282	ORPHA:459061
1802	DPH2	HP:0012413	Notched primary central incisor	1/1	OMIM:620062
1802	DPH2	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:459061
1802	DPH2	HP:0011220	Prominent forehead	3/3	OMIM:620062
1802	DPH2	HP:0011220	Prominent forehead	HP:0040281	ORPHA:459061
1804	DPP6	HP:0001137	Alternating esotropia	HP:0040282	ORPHA:2514
1804	DPP6	HP:0001249	Intellectual disability	6/6	OMIM:616311
1804	DPP6	HP:0000006	Autosomal dominant inheritance	-	OMIM:612956
1804	DPP6	HP:0000006	Autosomal dominant inheritance	-	OMIM:616311
1804	DPP6	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
1804	DPP6	HP:0002650	Scoliosis	1/6	OMIM:616311
1804	DPP6	HP:0002750	Delayed skeletal maturation	1/6	OMIM:616311
1804	DPP6	HP:0003577	Congenital onset	6/6	OMIM:616311
1804	DPP6	HP:0200065	Chorioretinal degeneration	1/6	OMIM:616311
1804	DPP6	HP:0009804	Tooth agenesis	HP:0040281	ORPHA:2514
1804	DPP6	HP:0000646	Amblyopia	1/6	OMIM:616311
1804	DPP6	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:2514
1804	DPP6	HP:0004325	Decreased body weight	6/6	OMIM:616311
1804	DPP6	HP:0004322	Short stature	HP:0040281	ORPHA:2514
1804	DPP6	HP:0004322	Short stature	5/6	OMIM:616311
1804	DPP6	HP:0000752	Hyperactivity	1/6	OMIM:616311
1804	DPP6	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
1804	DPP6	HP:0000252	Microcephaly	HP:0040281	ORPHA:2514
1804	DPP6	HP:0000252	Microcephaly	6/6	OMIM:616311
1804	DPP6	HP:0001664	Torsade de pointes	1/46	OMIM:115000
1804	DPP6	HP:0001645	Sudden cardiac death	-	OMIM:115000
1804	DPP6	HP:0001645	Sudden cardiac death	HP:0040283	OMIM:612956
1804	DPP6	HP:0001663	Ventricular fibrillation	-	OMIM:115000
1804	DPP6	HP:0001663	Ventricular fibrillation	-	OMIM:612956
1804	DPP6	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
1804	DPP6	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
1804	DPP6	HP:0006682	Premature ventricular contraction	-	OMIM:612956
1804	DPP6	HP:0000411	Protruding ear	HP:0040283	ORPHA:2514
1806	DPYD	HP:0001104	Macular hypoplasia	HP:0040283	ORPHA:1675
1806	DPYD	HP:0002445	Tetraplegia	-	OMIM:274270
1806	DPYD	HP:0100962	Excessive shyness	HP:0040281	ORPHA:293948
1806	DPYD	HP:0001276	Hypertonia	-	OMIM:274270
1806	DPYD	HP:0001276	Hypertonia	HP:0040283	ORPHA:1675
1806	DPYD	HP:0001274	Agenesis of corpus callosum	HP:0040283	OMIM:274270
1806	DPYD	HP:0001270	Motor delay	-	OMIM:274270
1806	DPYD	HP:0001284	Areflexia	HP:0040283	ORPHA:1675
1806	DPYD	HP:0001254	Lethargy	1/22	OMIM:274270
1806	DPYD	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:293948
1806	DPYD	HP:0001250	Seizure	10/22	OMIM:274270
1806	DPYD	HP:0001250	Seizure	HP:0040282	ORPHA:1675
1806	DPYD	HP:0001252	Hypotonia	-	OMIM:274270
1806	DPYD	HP:0001249	Intellectual disability	10/22	OMIM:274270
1806	DPYD	HP:0001249	Intellectual disability	HP:0040281	ORPHA:293948
1806	DPYD	HP:0001263	Global developmental delay	HP:0040281	ORPHA:293948
1806	DPYD	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1675
1806	DPYD	HP:0002540	Inability to walk	HP:0040283	ORPHA:1675
1806	DPYD	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:293948
1806	DPYD	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:1675
1806	DPYD	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:1675
1806	DPYD	HP:0006191	Deep palmar crease	HP:0040283	ORPHA:1675
1806	DPYD	HP:0001328	Specific learning disability	HP:0040282	ORPHA:1675
1806	DPYD	HP:0002656	Epiphyseal dysplasia	HP:0040283	ORPHA:1675
1806	DPYD	HP:0001344	Absent speech	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000007	Autosomal recessive inheritance	-	OMIM:274270
1806	DPYD	HP:0000194	Open mouth	HP:0040283	ORPHA:1675
1806	DPYD	HP:0012127	Uraciluria	-	OMIM:274270
1806	DPYD	HP:0012127	Uraciluria	HP:0040281	ORPHA:1675
1806	DPYD	HP:0000154	Wide mouth	HP:0040283	ORPHA:293948
1806	DPYD	HP:0008947	Floppy infant	HP:0040282	ORPHA:1675
1806	DPYD	HP:0002033	Poor suck	HP:0040283	ORPHA:1675
1806	DPYD	HP:0002002	Deep philtrum	HP:0040283	ORPHA:1675
1806	DPYD	HP:6000119	Elevated urinary dihydrothymine level	-	OMIM:274270
1806	DPYD	HP:0030939	Palpebral thickening	HP:0040283	ORPHA:1675
1806	DPYD	HP:0002059	Cerebral atrophy	-	OMIM:274270
1806	DPYD	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:1675
1806	DPYD	HP:0002187	Intellectual disability, profound	HP:0040283	ORPHA:1675
1806	DPYD	HP:0003593	Infantile onset	4/18	OMIM:274270
1806	DPYD	HP:0003577	Congenital onset	3/18	OMIM:274270
1806	DPYD	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:293948
1806	DPYD	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040283	ORPHA:1675
1806	DPYD	HP:0009748	Large earlobe	HP:0040283	ORPHA:1675
1806	DPYD	HP:0100738	Abnormal eating behavior	HP:0040281	ORPHA:293948
1806	DPYD	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1675
1806	DPYD	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1675
1806	DPYD	HP:0003654	Reduced dihydropyrimidine dehydrogenase level	-	OMIM:274270
1806	DPYD	HP:0003654	Reduced dihydropyrimidine dehydrogenase level	HP:0040281	ORPHA:1675
1806	DPYD	HP:0010841	Multifocal epileptiform discharges	HP:0040282	ORPHA:1675
1806	DPYD	HP:0003621	Juvenile onset	5/18	OMIM:274270
1806	DPYD	HP:0006863	Severe expressive language delay	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000639	Nystagmus	-	OMIM:274270
1806	DPYD	HP:0000639	Nystagmus	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000648	Optic atrophy	1/22	OMIM:274270
1806	DPYD	HP:0011344	Severe global developmental delay	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:1675
1806	DPYD	HP:0400004	Long ear	HP:0040281	ORPHA:293948
1806	DPYD	HP:0000752	Hyperactivity	-	OMIM:274270
1806	DPYD	HP:0000737	Irritability	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000750	Delayed speech and language development	3/22	OMIM:274270
1806	DPYD	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:293948
1806	DPYD	HP:0000742	Self-mutilation	HP:0040283	ORPHA:293948
1806	DPYD	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:293948
1806	DPYD	HP:0000717	Autism	4/22	OMIM:274270
1806	DPYD	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000729	Autistic behavior	HP:0040282	ORPHA:293948
1806	DPYD	HP:0000708	Atypical behavior	HP:0040282	ORPHA:293948
1806	DPYD	HP:0011463	Childhood onset	6/18	OMIM:274270
1806	DPYD	HP:0003196	Short nose	HP:0040282	ORPHA:293948
1806	DPYD	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000278	Retrognathia	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000293	Full cheeks	HP:0040282	ORPHA:293948
1806	DPYD	HP:0000256	Macrocephaly	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000256	Macrocephaly	HP:0040282	ORPHA:293948
1806	DPYD	HP:0000252	Microcephaly	3/22	OMIM:274270
1806	DPYD	HP:0000252	Microcephaly	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000218	High palate	HP:0040283	ORPHA:1675
1806	DPYD	HP:0001508	Failure to thrive	-	OMIM:274270
1806	DPYD	HP:0001510	Growth delay	4/22	OMIM:274270
1806	DPYD	HP:0001513	Obesity	HP:0040281	ORPHA:293948
1806	DPYD	HP:0000347	Micrognathia	HP:0040283	ORPHA:293948
1806	DPYD	HP:0002983	Micromelia	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000316	Hypertelorism	HP:0040283	ORPHA:1675
1806	DPYD	HP:0011153	Focal motor seizure	HP:0040283	ORPHA:1675
1806	DPYD	HP:0005274	Prominent nasal tip	HP:0040283	ORPHA:1675
1806	DPYD	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000483	Astigmatism	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000483	Astigmatism	HP:0040281	ORPHA:293948
1806	DPYD	HP:0000486	Strabismus	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000482	Microcornea	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000490	Deeply set eye	HP:0040282	ORPHA:293948
1806	DPYD	HP:0000463	Anteverted nares	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:293948
1806	DPYD	HP:0000470	Short neck	HP:0040283	ORPHA:1675
1806	DPYD	HP:0012433	Abnormal social behavior	HP:0040283	ORPHA:1675
1806	DPYD	HP:0001799	Short nail	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000527	Long eyelashes	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:293948
1806	DPYD	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:293948
1806	DPYD	HP:0000589	Coloboma	-	OMIM:274270
1806	DPYD	HP:0011220	Prominent forehead	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000568	Microphthalmia	1/22	OMIM:274270
1806	DPYD	HP:0000545	Myopia	HP:0040283	ORPHA:1675
1806	DPYD	HP:0000545	Myopia	HP:0040281	ORPHA:293948
1807	DPYS	HP:0007308	Extrapyramidal dyskinesia	-	OMIM:222748
1807	DPYS	HP:0007256	Abnormal pyramidal sign	HP:0040283	OMIM:222748
1807	DPYS	HP:0003710	Exercise-induced muscle cramps	1/1	OMIM:222748
1807	DPYS	HP:0001254	Lethargy	-	OMIM:222748
1807	DPYS	HP:0001250	Seizure	6/20	OMIM:222748
1807	DPYS	HP:0001249	Intellectual disability	12/19	OMIM:222748
1807	DPYS	HP:0001262	Excessive daytime somnolence	-	OMIM:222748
1807	DPYS	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:222748
1807	DPYS	HP:0001357	Plagiocephaly	-	OMIM:222748
1807	DPYS	HP:0000007	Autosomal recessive inheritance	-	OMIM:222748
1807	DPYS	HP:0012127	Uraciluria	2/2	OMIM:222748
1807	DPYS	HP:0002023	Anal atresia	-	OMIM:222748
1807	DPYS	HP:6000118	Elevated urinary dihydrouracil level	1/1	OMIM:222748
1807	DPYS	HP:6000119	Elevated urinary dihydrothymine level	1/1	OMIM:222748
1807	DPYS	HP:0002062	Abnormal pyramidal tract morphology	-	OMIM:222748
1807	DPYS	HP:0033139	Elevated circulating uracil concentration	1/2	OMIM:222748
1807	DPYS	HP:6000211	Elevated CSF dihydrouracil concentration	1/1	OMIM:222748
1807	DPYS	HP:0034593	Elevated circulating dihydrouracil concentration	-	OMIM:222748
1807	DPYS	HP:6000331	Elevated urinary thymine level	-	OMIM:222748
1807	DPYS	HP:0011968	Feeding difficulties	7/20	OMIM:222748
1807	DPYS	HP:0003654	Reduced dihydropyrimidine dehydrogenase level	2/2	OMIM:222748
1807	DPYS	HP:0009803	Short phalanx of finger	-	OMIM:222748
1807	DPYS	HP:4000095	Elevated circulating thymine concentration	2/2	OMIM:222748
1807	DPYS	HP:0001942	Metabolic acidosis	-	OMIM:222748
1807	DPYS	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:222748
1807	DPYS	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:222748
1807	DPYS	HP:0000752	Hyperactivity	1/1	OMIM:222748
1807	DPYS	HP:0000750	Delayed speech and language development	2/2	OMIM:222748
1807	DPYS	HP:0000717	Autism	3/20	OMIM:222748
1807	DPYS	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:222748
1807	DPYS	HP:6000083	Reduced hepatic dihydropyrimidinase activity	-	OMIM:222748
1807	DPYS	HP:0000252	Microcephaly	3/20	OMIM:222748
1807	DPYS	HP:0001508	Failure to thrive	4/20	OMIM:222748
1807	DPYS	HP:0001510	Growth delay	4/20	OMIM:222748
1807	DPYS	HP:0001762	Talipes equinovarus	-	OMIM:222748
1807	DPYS	HP:0012544	Elevated circulating aldolase concentration	1/1	OMIM:222748
1811	SLC26A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:214700
1811	SLC26A3	HP:0034470	Elevated stool chloride content	2/2	OMIM:214700
1811	SLC26A3	HP:0003593	Infantile onset	4/5	OMIM:214700
1811	SLC26A3	HP:0200114	Metabolic alkalosis	-	OMIM:214700
1811	SLC26A3	HP:0032067	Elevated serum bicarbonate concentration	6/6	OMIM:214700
1811	SLC26A3	HP:0003621	Juvenile onset	1/5	OMIM:214700
1811	SLC26A3	HP:0001948	Alkalosis	-	OMIM:214700
1811	SLC26A3	HP:0001944	Dehydration	-	OMIM:214700
1811	SLC26A3	HP:0003113	Hypochloremia	-	OMIM:214700
1811	SLC26A3	HP:0000859	Increased circulating aldosterone concentration	2/2	OMIM:214700
1811	SLC26A3	HP:0000848	Increased circulating renin concentration	2/2	OMIM:214700
1811	SLC26A3	HP:0000841	Hyperactive renin-angiotensin system	-	OMIM:214700
1811	SLC26A3	HP:0003270	Abdominal distention	-	OMIM:214700
1811	SLC26A3	HP:0001561	Polyhydramnios	-	OMIM:214700
1811	SLC26A3	HP:0001508	Failure to thrive	-	OMIM:214700
1811	SLC26A3	HP:0001507	Growth abnormality	-	OMIM:214700
1811	SLC26A3	HP:0001510	Growth delay	-	OMIM:214700
1811	SLC26A3	HP:0005208	Secretory diarrhea	6/6	OMIM:214700
1811	SLC26A3	HP:0002902	Hyponatremia	-	OMIM:214700
1811	SLC26A3	HP:0002900	Hypokalemia	6/6	OMIM:214700
1811	SLC26A3	HP:0001622	Premature birth	-	OMIM:214700
1813	DRD2	HP:0025269	Panic attack	HP:0040282	ORPHA:36899
1813	DRD2	HP:0012075	Personality disorder	HP:0040282	ORPHA:36899
1813	DRD2	HP:0001332	Dystonia	HP:0040281	ORPHA:36899
1813	DRD2	HP:0001336	Myoclonus	HP:0040281	ORPHA:36899
1813	DRD2	HP:0010531	Spinal myoclonus	HP:0040281	ORPHA:36899
1813	DRD2	HP:0002356	Writer's cramp	HP:0040282	ORPHA:36899
1813	DRD2	HP:0000739	Anxiety	HP:0040282	ORPHA:36899
1813	DRD2	HP:0000716	Depression	HP:0040282	ORPHA:36899
1813	DRD2	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:36899
1813	DRD2	HP:0045084	Limb myoclonus	HP:0040281	ORPHA:36899
1813	DRD2	HP:0000473	Torticollis	HP:0040282	ORPHA:36899
1814	DRD3	HP:0001260	Dysarthria	-	OMIM:190300
1814	DRD3	HP:0410291	Negativism	-	OMIM:181500
1814	DRD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:190300
1814	DRD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:181500
1814	DRD3	HP:0002174	Postural tremor	-	OMIM:190300
1814	DRD3	HP:0100753	Schizophrenia	-	OMIM:181500
1814	DRD3	HP:0007086	Social and occupational deterioration	-	OMIM:181500
1814	DRD3	HP:0002378	Hand tremor	-	OMIM:190300
1814	DRD3	HP:0002345	Action tremor	-	OMIM:190300
1814	DRD3	HP:0003676	Progressive	-	OMIM:190300
1814	DRD3	HP:0002353	EEG abnormality	-	OMIM:181500
1814	DRD3	HP:0000738	Hallucinations	-	OMIM:181500
1814	DRD3	HP:0000746	Delusion	-	OMIM:181500
1815	DRD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:143465
1815	DRD4	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:143465
1815	DRD4	HP:0000752	Hyperactivity	-	OMIM:143465
1816	DRD5	HP:0003745	Sporadic	-	OMIM:606798
1816	DRD5	HP:0000006	Autosomal dominant inheritance	-	OMIM:606798
1816	DRD5	HP:0000006	Autosomal dominant inheritance	-	OMIM:143465
1816	DRD5	HP:0003596	Middle age onset	-	OMIM:606798
1816	DRD5	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:143465
1816	DRD5	HP:0000643	Blepharospasm	-	OMIM:606798
1816	DRD5	HP:0000752	Hyperactivity	-	OMIM:143465
1822	ATN1	HP:0001152	Saccadic smooth pursuit	HP:0040282	ORPHA:101
1822	ATN1	HP:0001138	Optic neuropathy	HP:0040282	ORPHA:101
1822	ATN1	HP:0010880	Increased nuchal translucency	1/8	OMIM:618494
1822	ATN1	HP:0010867	Dyssynergia	HP:0040282	ORPHA:101
1822	ATN1	HP:0003743	Genetic anticipation	-	OMIM:125370
1822	ATN1	HP:0001250	Seizure	HP:0040282	ORPHA:101
1822	ATN1	HP:0001250	Seizure	24/51	OMIM:125370
1822	ATN1	HP:0001250	Seizure	5/8	OMIM:618494
1822	ATN1	HP:0001252	Hypotonia	8/8	OMIM:618494
1822	ATN1	HP:0001251	Ataxia	HP:0040282	ORPHA:101
1822	ATN1	HP:0001251	Ataxia	28/51	OMIM:125370
1822	ATN1	HP:0001249	Intellectual disability	8/51	OMIM:125370
1822	ATN1	HP:0001249	Intellectual disability	8/8	OMIM:618494
1822	ATN1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:101
1822	ATN1	HP:0001266	Choreoathetosis	-	OMIM:125370
1822	ATN1	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:101
1822	ATN1	HP:0001260	Dysarthria	HP:0040282	ORPHA:101
1822	ATN1	HP:0001263	Global developmental delay	8/8	OMIM:618494
1822	ATN1	HP:0410263	Brain imaging abnormality	-	OMIM:618494
1822	ATN1	HP:0001212	Prominent fingertip pads	1/8	OMIM:618494
1822	ATN1	HP:0002540	Inability to walk	-	OMIM:618494
1822	ATN1	HP:0002521	Hypsarrhythmia	1/8	OMIM:618494
1822	ATN1	HP:0000089	Renal hypoplasia	1/8	OMIM:618494
1822	ATN1	HP:0012048	Oromandibular dystonia	HP:0040283	ORPHA:101
1822	ATN1	HP:0025352	Typically de novo	-	OMIM:618494
1822	ATN1	HP:0001385	Hip dysplasia	1/8	OMIM:618494
1822	ATN1	HP:0001382	Joint hypermobility	-	OMIM:618494
1822	ATN1	HP:0000028	Cryptorchidism	1/2	OMIM:618494
1822	ATN1	HP:0001332	Dystonia	3/51	OMIM:125370
1822	ATN1	HP:0001344	Absent speech	5/8	OMIM:618494
1822	ATN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:125370
1822	ATN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618494
1822	ATN1	HP:0001336	Myoclonus	HP:0040282	ORPHA:101
1822	ATN1	HP:0001336	Myoclonus	2/51	OMIM:125370
1822	ATN1	HP:0001310	Dysmetria	HP:0040282	ORPHA:101
1822	ATN1	HP:0001320	Cerebellar vermis hypoplasia	2/8	OMIM:618494
1822	ATN1	HP:0002650	Scoliosis	2/8	OMIM:618494
1822	ATN1	HP:0001300	Parkinsonism	1/51	OMIM:125370
1822	ATN1	HP:0000194	Open mouth	-	OMIM:618494
1822	ATN1	HP:0000175	Cleft palate	2/8	OMIM:618494
1822	ATN1	HP:0002705	High, narrow palate	-	OMIM:618494
1822	ATN1	HP:0000122	Unilateral renal agenesis	1/8	OMIM:618494
1822	ATN1	HP:0000126	Hydronephrosis	HP:0040284	OMIM:618494
1822	ATN1	HP:0002020	Gastroesophageal reflux	5/8	OMIM:618494
1822	ATN1	HP:0002019	Constipation	2/8	OMIM:618494
1822	ATN1	HP:0002015	Dysphagia	4/8	OMIM:618494
1822	ATN1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:101
1822	ATN1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:101
1822	ATN1	HP:0002078	Truncal ataxia	HP:0040282	ORPHA:101
1822	ATN1	HP:0002079	Hypoplasia of the corpus callosum	4/8	OMIM:618494
1822	ATN1	HP:0002075	Dysdiadochokinesis	HP:0040282	ORPHA:101
1822	ATN1	HP:0002072	Chorea	24/51	OMIM:125370
1822	ATN1	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:101
1822	ATN1	HP:0002070	Limb ataxia	HP:0040282	ORPHA:101
1822	ATN1	HP:0002059	Cerebral atrophy	-	OMIM:618494
1822	ATN1	HP:0002126	Polymicrogyria	4/8	OMIM:618494
1822	ATN1	HP:0002172	Postural instability	24/51	OMIM:125370
1822	ATN1	HP:0010557	Overlapping fingers	3/8	OMIM:618494
1822	ATN1	HP:0011833	Overhanging nasal tip	-	OMIM:618494
1822	ATN1	HP:0003596	Middle age onset	6/18	OMIM:125370
1822	ATN1	HP:0003577	Congenital onset	8/8	OMIM:618494
1822	ATN1	HP:0100704	Cerebral visual impairment	4/8	OMIM:618494
1822	ATN1	HP:0003584	Late onset	1/18	OMIM:125370
1822	ATN1	HP:0007047	Atrophy of the dentate nucleus	HP:0040281	OMIM:125370
1822	ATN1	HP:0010654	Aplasia of the falx cerebri	4/8	OMIM:618494
1822	ATN1	HP:0002345	Action tremor	HP:0040282	ORPHA:101
1822	ATN1	HP:0002354	Memory impairment	HP:0040283	ORPHA:101
1822	ATN1	HP:0003680	Nonprogressive	-	OMIM:618494
1822	ATN1	HP:0010831	Impaired proprioception	HP:0040282	ORPHA:101
1822	ATN1	HP:0009765	Low hanging columella	-	OMIM:618494
1822	ATN1	HP:0003621	Juvenile onset	5/18	OMIM:125370
1822	ATN1	HP:0000639	Nystagmus	HP:0040282	ORPHA:101
1822	ATN1	HP:0000643	Blepharospasm	HP:0040283	ORPHA:101
1822	ATN1	HP:0004305	Involuntary movements	HP:0040282	ORPHA:101
1822	ATN1	HP:0000726	Dementia	HP:0040282	ORPHA:101
1822	ATN1	HP:0000726	Dementia	18/51	OMIM:125370
1822	ATN1	HP:0011462	Young adult onset	6/18	OMIM:125370
1822	ATN1	HP:0003186	Inverted nipples	2/8	OMIM:618494
1822	ATN1	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040282	ORPHA:101
1822	ATN1	HP:0034353	Appendicular spasticity	2/8	OMIM:618494
1822	ATN1	HP:0000286	Epicanthus	-	OMIM:618494
1822	ATN1	HP:0000219	Thin upper lip vermilion	-	OMIM:618494
1822	ATN1	HP:0001545	Anteriorly placed anus	-	OMIM:618494
1822	ATN1	HP:0001562	Oligohydramnios	1/8	OMIM:618494
1822	ATN1	HP:0002870	Obstructive sleep apnea	3/8	OMIM:618494
1822	ATN1	HP:0000365	Hearing impairment	-	OMIM:618494
1822	ATN1	HP:0000358	Posteriorly rotated ears	-	OMIM:618494
1822	ATN1	HP:0000369	Low-set ears	-	OMIM:618494
1822	ATN1	HP:0000341	Narrow forehead	-	OMIM:618494
1822	ATN1	HP:0000343	Long philtrum	-	OMIM:618494
1822	ATN1	HP:0001680	Coarctation of aorta	1/8	OMIM:618494
1822	ATN1	HP:0000348	High forehead	-	OMIM:618494
1822	ATN1	HP:0001655	Patent foramen ovale	1/8	OMIM:618494
1822	ATN1	HP:0001629	Ventricular septal defect	1/8	OMIM:618494
1822	ATN1	HP:0001627	Abnormal heart morphology	HP:0040284	OMIM:618494
1822	ATN1	HP:0001631	Atrial septal defect	2/8	OMIM:618494
1822	ATN1	HP:0005301	Persistent left superior vena cava	1/8	OMIM:618494
1822	ATN1	HP:0000403	Recurrent otitis media	-	OMIM:618494
1822	ATN1	HP:0000490	Deeply set eye	-	OMIM:618494
1822	ATN1	HP:0000414	Bulbous nose	-	OMIM:618494
1822	ATN1	HP:0001845	Overlapping toe	4/8	OMIM:618494
1822	ATN1	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:101
1822	ATN1	HP:0000568	Microphthalmia	1/8	OMIM:618494
1824	DSC2	HP:0001279	Syncope	3/7	OMIM:610476
1824	DSC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:610476
1824	DSC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:610476
1824	DSC2	HP:0002094	Dyspnea	1/7	OMIM:610476
1824	DSC2	HP:0003596	Middle age onset	4/7	OMIM:610476
1824	DSC2	HP:0003584	Late onset	1/7	OMIM:610476
1824	DSC2	HP:0002224	Woolly hair	-	OMIM:610476
1824	DSC2	HP:0003621	Juvenile onset	1/7	OMIM:610476
1824	DSC2	HP:0001962	Palpitations	4/7	OMIM:610476
1824	DSC2	HP:0004308	Ventricular arrhythmia	-	OMIM:610476
1824	DSC2	HP:0011462	Young adult onset	1/7	OMIM:610476
1824	DSC2	HP:0000982	Palmoplantar keratoderma	-	OMIM:610476
1824	DSC2	HP:0011663	Right ventricular cardiomyopathy	-	OMIM:610476
1824	DSC2	HP:0001645	Sudden cardiac death	4/7	OMIM:610476
1825	DSC3	HP:0007502	Follicular hyperkeratosis	1/1	OMIM:613102
1825	DSC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:613102
1825	DSC3	HP:0000164	Abnormality of the dentition	0/4	OMIM:613102
1825	DSC3	HP:0003593	Infantile onset	4/4	OMIM:613102
1825	DSC3	HP:0002215	Sparse axillary hair	4/4	OMIM:613102
1825	DSC3	HP:0002231	Sparse body hair	4/4	OMIM:613102
1825	DSC3	HP:0002209	Sparse scalp hair	5/5	OMIM:613102
1825	DSC3	HP:0025092	Epidermal acanthosis	1/1	OMIM:613102
1825	DSC3	HP:0200037	Skin vesicle	4/4	OMIM:613102
1825	DSC3	HP:0000653	Sparse eyelashes	4/4	OMIM:613102
1825	DSC3	HP:0003115	Abnormal EKG	0/4	OMIM:613102
1825	DSC3	HP:0045075	Sparse eyebrow	5/5	OMIM:613102
1825	DSC3	HP:0008070	Sparse hair	1/1	OMIM:613102
1825	DSC3	HP:0008066	Abnormal blistering of the skin	1/1	OMIM:613102
1825	DSC3	HP:0030318	Angular cheilitis	1/1	OMIM:613102
1825	DSC3	HP:0001820	Leukonychia	1/1	OMIM:613102
1828	DSG1	HP:0025114	Hypergranulosis	3/3	OMIM:615508
1828	DSG1	HP:0025114	Hypergranulosis	-	OMIM:148700
1828	DSG1	HP:0003765	Psoriasiform dermatitis	3/3	OMIM:615508
1828	DSG1	HP:0410151	Eosinophilic infiltration of the esophagus	1/3	OMIM:615508
1828	DSG1	HP:0001263	Global developmental delay	3/3	OMIM:615508
1828	DSG1	HP:0007446	Palmoplantar blistering	4/4	OMIM:148700
1828	DSG1	HP:0007501	Streaks of hyperkeratosis along each finger onto the palm	15/15	OMIM:148700
1828	DSG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615508
1828	DSG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:148700
1828	DSG1	HP:0500093	Food allergy	3/3	OMIM:615508
1828	DSG1	HP:0002024	Malabsorption	3/3	OMIM:615508
1828	DSG1	HP:0003577	Congenital onset	3/3	OMIM:615508
1828	DSG1	HP:0002205	Recurrent respiratory infections	3/3	OMIM:615508
1828	DSG1	HP:0008404	Nail dystrophy	1/1	OMIM:148700
1828	DSG1	HP:0100792	Acantholysis	3/3	OMIM:615508
1828	DSG1	HP:0001019	Erythroderma	3/3	OMIM:615508
1828	DSG1	HP:0025092	Epidermal acanthosis	3/3	OMIM:148700
1828	DSG1	HP:0025080	Orthokeratotic hyperkeratosis	1/1	OMIM:148700
1828	DSG1	HP:0011367	Yellow nails	1/1	OMIM:148700
1828	DSG1	HP:0003073	Hypoalbuminemia	3/3	OMIM:615508
1828	DSG1	HP:0003228	Hypernatremia	3/3	OMIM:615508
1828	DSG1	HP:0003212	Increased circulating IgE concentration	3/3	OMIM:615508
1828	DSG1	HP:0000975	Hyperhidrosis	4/4	OMIM:148700
1828	DSG1	HP:0000972	Palmoplantar hyperkeratosis	15/15	OMIM:148700
1828	DSG1	HP:0034323	Reduced circulating growth hormone concentration	1/3	OMIM:615508
1828	DSG1	HP:0011625	Multiple muscular ventricular septal defects	1/3	OMIM:615508
1828	DSG1	HP:0000982	Palmoplantar keratoderma	1/1	OMIM:148700
1828	DSG1	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:50942
1828	DSG1	HP:0000982	Palmoplantar keratoderma	3/3	OMIM:615508
1828	DSG1	HP:0040162	Orthokeratosis	3/3	OMIM:615508
1828	DSG1	HP:0008070	Sparse hair	1/3	OMIM:615508
1828	DSG1	HP:0008064	Ichthyosis	3/3	OMIM:615508
1828	DSG1	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:50942
1828	DSG1	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:50942
1828	DSG1	HP:0000252	Microcephaly	2/3	OMIM:615508
1828	DSG1	HP:0001581	Recurrent skin infections	2/3	OMIM:615508
1828	DSG1	HP:0001508	Failure to thrive	3/3	OMIM:615508
1828	DSG1	HP:0001510	Growth delay	-	OMIM:615508
1828	DSG1	HP:0001642	Pulmonic stenosis	1/3	OMIM:615508
1828	DSG1	HP:0001806	Onycholysis	1/1	OMIM:148700
1829	DSG2	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
1829	DSG2	HP:0410173	Increased circulating troponin I concentration	1/8	OMIM:610193
1829	DSG2	HP:0032232	Increased circulating creatine kinase MB isoform	1/8	OMIM:610193
1829	DSG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:612877
1829	DSG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:610193
1829	DSG2	HP:0033755	Increased left ventricular end-diastolic volume	1/1	OMIM:612877
1829	DSG2	HP:0002094	Dyspnea	1/1	OMIM:612877
1829	DSG2	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
1829	DSG2	HP:0011712	Complete right bundle branch block	1/8	OMIM:610193
1829	DSG2	HP:0011713	Left bundle branch block	1/1	OMIM:612877
1829	DSG2	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
1829	DSG2	HP:0004756	Ventricular tachycardia	3/8	OMIM:610193
1829	DSG2	HP:0003596	Middle age onset	3/8	OMIM:610193
1829	DSG2	HP:0003584	Late onset	1/8	OMIM:610193
1829	DSG2	HP:0003581	Adult onset	1/1	OMIM:612877
1829	DSG2	HP:0002224	Woolly hair	0/8	OMIM:610193
1829	DSG2	HP:0100749	Chest pain	1/8	OMIM:610193
1829	DSG2	HP:0003621	Juvenile onset	2/8	OMIM:610193
1829	DSG2	HP:0001962	Palpitations	3/8	OMIM:610193
1829	DSG2	HP:0012666	Severely reduced left ventricular ejection fraction	1/1	OMIM:612877
1829	DSG2	HP:0004308	Ventricular arrhythmia	8/8	OMIM:610193
1829	DSG2	HP:0011462	Young adult onset	2/8	OMIM:610193
1829	DSG2	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
1829	DSG2	HP:0003198	Myopathy	HP:0040283	ORPHA:154
1829	DSG2	HP:0034304	Epsilon wave	3/8	OMIM:610193
1829	DSG2	HP:0000969	Edema	HP:0040282	ORPHA:154
1829	DSG2	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
1829	DSG2	HP:0011663	Right ventricular cardiomyopathy	-	OMIM:610193
1829	DSG2	HP:0012248	Prolonged PR interval	3/8	OMIM:610193
1829	DSG2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
1829	DSG2	HP:0012378	Fatigue	HP:0040282	ORPHA:154
1829	DSG2	HP:0001645	Sudden cardiac death	1/8	OMIM:610193
1829	DSG2	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
1829	DSG2	HP:0001644	Dilated cardiomyopathy	1/1	OMIM:612877
1829	DSG2	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
1829	DSG2	HP:0001635	Congestive heart failure	1/1	OMIM:612877
1829	DSG2	HP:0006682	Premature ventricular contraction	5/8	OMIM:610193
1829	DSG2	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
1829	DSG2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
1830	DSG3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619226
1830	DSG3	HP:0200097	Oral mucosal blisters	1/1	OMIM:619226
1830	DSG3	HP:0031446	Erosion of oral mucosa	1/1	OMIM:619226
1832	DSP	HP:0001159	Syndactyly	1/2	OMIM:609638
1832	DSP	HP:0025175	Honeycomb lung	HP:0040282	ORPHA:2032
1832	DSP	HP:0025179	Ground-glass opacification	HP:0040282	ORPHA:2032
1832	DSP	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
1832	DSP	HP:0009884	Tapered distal phalanges of finger	1/1	OMIM:609638
1832	DSP	HP:0001279	Syncope	HP:0040283	OMIM:615821
1832	DSP	HP:0001233	2-3 finger cutaneous syndactyly	HP:0040283	ORPHA:158687
1832	DSP	HP:0007418	Alopecia totalis	1/1	OMIM:609638
1832	DSP	HP:0006097	3-4 finger osseus syndactyly	HP:0040283	ORPHA:158687
1832	DSP	HP:0032341	Reduced forced vital capacity	HP:0040282	ORPHA:2032
1832	DSP	HP:0003811	Neonatal death	4/4	OMIM:609638
1832	DSP	HP:0025390	Reticular pattern on pulmonary HRCT	HP:0040282	ORPHA:2032
1832	DSP	HP:0000007	Autosomal recessive inheritance	-	OMIM:605676
1832	DSP	HP:0000007	Autosomal recessive inheritance	-	OMIM:609638
1832	DSP	HP:0000006	Autosomal dominant inheritance	-	OMIM:612908
1832	DSP	HP:0000006	Autosomal dominant inheritance	-	OMIM:615821
1832	DSP	HP:0000006	Autosomal dominant inheritance	-	OMIM:607450
1832	DSP	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	HP:0040282	ORPHA:158687
1832	DSP	HP:0025493	Palmoplantar erythema	1/2	OMIM:605676
1832	DSP	HP:0000164	Abnormality of the dentition	0/26	OMIM:612908
1832	DSP	HP:0000175	Cleft palate	HP:0040283	ORPHA:158687
1832	DSP	HP:0031274	Hypovolemic shock	HP:0040282	ORPHA:158687
1832	DSP	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2032
1832	DSP	HP:0010444	Pulmonic regurgitation	HP:0040283	ORPHA:2032
1832	DSP	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
1832	DSP	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
1832	DSP	HP:0004756	Ventricular tachycardia	1/12	OMIM:605676
1832	DSP	HP:0004756	Ventricular tachycardia	1/1	OMIM:615821
1832	DSP	HP:0004756	Ventricular tachycardia	2/11	OMIM:607450
1832	DSP	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:2032
1832	DSP	HP:0003577	Congenital onset	2/2	OMIM:605676
1832	DSP	HP:0002223	Absent eyebrow	HP:0040282	ORPHA:158687
1832	DSP	HP:0002224	Woolly hair	13/14	OMIM:605676
1832	DSP	HP:0002224	Woolly hair	HP:0040281	ORPHA:65282
1832	DSP	HP:0002224	Woolly hair	1/1	OMIM:615821
1832	DSP	HP:0002224	Woolly hair	0/11	OMIM:607450
1832	DSP	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:2032
1832	DSP	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:2032
1832	DSP	HP:0008404	Nail dystrophy	HP:0040283	OMIM:615821
1832	DSP	HP:0008404	Nail dystrophy	1/2	OMIM:605676
1832	DSP	HP:0010705	4-5 finger cutaneous syndactyly	HP:0040283	ORPHA:158687
1832	DSP	HP:0100792	Acantholysis	2/2	OMIM:605676
1832	DSP	HP:0100792	Acantholysis	4/4	OMIM:609638
1832	DSP	HP:0100792	Acantholysis	HP:0040282	ORPHA:158687
1832	DSP	HP:0002289	Alopecia universalis	3/3	OMIM:609638
1832	DSP	HP:0002298	Absent hair	HP:0040282	ORPHA:158687
1832	DSP	HP:0100759	Clubbing of fingers	HP:0040282	ORPHA:2032
1832	DSP	HP:0100759	Clubbing of fingers	-	OMIM:605676
1832	DSP	HP:0033367	Orthodeoxia	HP:0040283	ORPHA:2032
1832	DSP	HP:0001057	Aplasia cutis congenita	1/1	OMIM:609638
1832	DSP	HP:0001063	Acrocyanosis	HP:0040282	ORPHA:2032
1832	DSP	HP:0001036	Parakeratosis	-	OMIM:615821
1832	DSP	HP:0001030	Fragile skin	HP:0040282	ORPHA:158687
1832	DSP	HP:0001030	Fragile skin	2/2	OMIM:605676
1832	DSP	HP:0025092	Epidermal acanthosis	1/1	OMIM:612908
1832	DSP	HP:0009804	Tooth agenesis	-	OMIM:605676
1832	DSP	HP:0009804	Tooth agenesis	1/1	OMIM:615821
1832	DSP	HP:0100613	Death in early adulthood	3/12	OMIM:605676
1832	DSP	HP:0200041	Skin erosion	3/3	OMIM:609638
1832	DSP	HP:0010783	Erythema	-	OMIM:615821
1832	DSP	HP:0003621	Juvenile onset	-	OMIM:612908
1832	DSP	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:158687
1832	DSP	HP:0004209	Clinodactyly of the 5th finger	1/2	OMIM:609638
1832	DSP	HP:0005597	Congenital alopecia totalis	HP:0040282	ORPHA:158687
1832	DSP	HP:0005588	Patchy palmoplantar hyperkeratosis	HP:0040281	ORPHA:65282
1832	DSP	HP:0000695	Natal tooth	HP:0040282	ORPHA:158687
1832	DSP	HP:0000695	Natal tooth	1/1	OMIM:609638
1832	DSP	HP:0000653	Sparse eyelashes	1/2	OMIM:605676
1832	DSP	HP:0031950	Usual interstitial pneumonia	HP:0040282	ORPHA:2032
1832	DSP	HP:0012735	Cough	HP:0040282	ORPHA:2032
1832	DSP	HP:0011463	Childhood onset	1/1	OMIM:615821
1832	DSP	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
1832	DSP	HP:0011421	Death in adolescence	2/12	OMIM:605676
1832	DSP	HP:0003198	Myopathy	HP:0040283	ORPHA:154
1832	DSP	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:158687
1832	DSP	HP:0045051	Decreased DLCO	HP:0040282	ORPHA:2032
1832	DSP	HP:0030816	Gingival recession	-	OMIM:615821
1832	DSP	HP:0045075	Sparse eyebrow	1/2	OMIM:605676
1832	DSP	HP:0030830	Crackles	HP:0040282	ORPHA:2032
1832	DSP	HP:0000972	Palmoplantar hyperkeratosis	1/2	OMIM:605676
1832	DSP	HP:0000989	Pruritus	HP:0040283	OMIM:615821
1832	DSP	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:50942
1832	DSP	HP:0000982	Palmoplantar keratoderma	1/1	OMIM:615821
1832	DSP	HP:0000982	Palmoplantar keratoderma	26/26	OMIM:612908
1832	DSP	HP:0000982	Palmoplantar keratoderma	12/12	OMIM:605676
1832	DSP	HP:0000969	Edema	HP:0040282	ORPHA:154
1832	DSP	HP:0000969	Edema	-	OMIM:605676
1832	DSP	HP:0000962	Hyperkeratosis	1/1	OMIM:615821
1832	DSP	HP:0008094	Widely spaced toes	1/1	OMIM:609638
1832	DSP	HP:0008064	Ichthyosis	HP:0040283	OMIM:615821
1832	DSP	HP:0008066	Abnormal blistering of the skin	2/2	OMIM:605676
1832	DSP	HP:0008066	Abnormal blistering of the skin	1/1	OMIM:609638
1832	DSP	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
1832	DSP	HP:0011663	Right ventricular cardiomyopathy	11/11	OMIM:607450
1832	DSP	HP:0001595	Abnormal hair morphology	0/26	OMIM:612908
1832	DSP	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:50942
1832	DSP	HP:0001597	Abnormal nail morphology	0/26	OMIM:612908
1832	DSP	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:50942
1832	DSP	HP:0001596	Alopecia	1/2	OMIM:605676
1832	DSP	HP:0031319	Cardiomyocyte hypertrophy	-	OMIM:605676
1832	DSP	HP:0025524	Palmoplantar scaling skin	1/2	OMIM:605676
1832	DSP	HP:0002878	Respiratory failure	HP:0040282	ORPHA:158687
1832	DSP	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
1832	DSP	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:2032
1832	DSP	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:158687
1832	DSP	HP:0001508	Failure to thrive	1/2	OMIM:605676
1832	DSP	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:158687
1832	DSP	HP:0012378	Fatigue	HP:0040282	ORPHA:154
1832	DSP	HP:0012378	Fatigue	HP:0040282	ORPHA:2032
1832	DSP	HP:0011039	Abnormal helix morphology	HP:0040283	ORPHA:158687
1832	DSP	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:158687
1832	DSP	HP:0031538	Abnormal dermoepidermal junction morphology	HP:0040282	ORPHA:158687
1832	DSP	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040281	ORPHA:2032
1832	DSP	HP:0001645	Sudden cardiac death	2/11	OMIM:607450
1832	DSP	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
1832	DSP	HP:0001644	Dilated cardiomyopathy	1/1	OMIM:615821
1832	DSP	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:65282
1832	DSP	HP:0001644	Dilated cardiomyopathy	9/12	OMIM:605676
1832	DSP	HP:0001663	Ventricular fibrillation	2/11	OMIM:607450
1832	DSP	HP:0001626	Abnormality of the cardiovascular system	0/2	OMIM:605676
1832	DSP	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:158687
1832	DSP	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
1832	DSP	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:65282
1832	DSP	HP:0001635	Congestive heart failure	1/11	OMIM:607450
1832	DSP	HP:0001635	Congestive heart failure	-	OMIM:605676
1832	DSP	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:158687
1832	DSP	HP:0031631	Subpleural honeycombing	HP:0040282	ORPHA:2032
1832	DSP	HP:0004057	Mitten deformity	1/1	OMIM:609638
1832	DSP	HP:0006682	Premature ventricular contraction	5/11	OMIM:607450
1832	DSP	HP:0006670	Impaired myocardial contractility	HP:0040283	ORPHA:158687
1832	DSP	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
1832	DSP	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
1832	DSP	HP:0001798	Anonychia	1/1	OMIM:609638
1832	DSP	HP:0025708	Early young adult onset	1/1	OMIM:607450
1832	DSP	HP:0001852	Sandal gap	1/1	OMIM:609638
1832	DSP	HP:0001820	Leukonychia	HP:0040283	OMIM:615821
1832	DSP	HP:0001836	Camptodactyly of toe	HP:0040283	ORPHA:158687
1832	DSP	HP:0001808	Fragile nails	HP:0040283	OMIM:615821
1832	DSP	HP:0001802	Absent toenail	HP:0040282	ORPHA:158687
1832	DSP	HP:0001817	Absent fingernail	1/1	OMIM:609638
1832	DSP	HP:0001817	Absent fingernail	HP:0040282	ORPHA:158687
1832	DSP	HP:0000561	Absent eyelashes	HP:0040282	ORPHA:158687
1834	DSPP	HP:0003771	Pulp calcification	-	OMIM:125420
1834	DSPP	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:605594
1834	DSPP	HP:0001256	Intellectual disability, mild	-	OMIM:259770
1834	DSPP	HP:0001252	Hypotonia	-	OMIM:259770
1834	DSPP	HP:0001263	Global developmental delay	1/1	OMIM:612394
1834	DSPP	HP:0001382	Joint hypermobility	-	OMIM:259770
1834	DSPP	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
1834	DSPP	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
1834	DSPP	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
1834	DSPP	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
1834	DSPP	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
1834	DSPP	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
1834	DSPP	HP:0000006	Autosomal dominant inheritance	-	OMIM:605594
1834	DSPP	HP:0000006	Autosomal dominant inheritance	-	OMIM:125500
1834	DSPP	HP:0000006	Autosomal dominant inheritance	-	OMIM:125420
1834	DSPP	HP:0000006	Autosomal dominant inheritance	-	OMIM:125490
1834	DSPP	HP:0002650	Scoliosis	1/5	OMIM:259770
1834	DSPP	HP:0002650	Scoliosis	1/1	OMIM:612394
1834	DSPP	HP:0033790	Thistle tube shaped pulp	1/1	OMIM:125420
1834	DSPP	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
1834	DSPP	HP:0006286	Yellow-brown discoloration of the teeth	-	OMIM:125490
1834	DSPP	HP:0002757	Recurrent fractures	4/5	OMIM:259770
1834	DSPP	HP:0002756	Pathologic fracture	-	OMIM:259770
1834	DSPP	HP:0002756	Pathologic fracture	1/1	OMIM:612394
1834	DSPP	HP:0002751	Kyphoscoliosis	-	OMIM:259770
1834	DSPP	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
1834	DSPP	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
1834	DSPP	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
1834	DSPP	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
1834	DSPP	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
1834	DSPP	HP:0002164	Nail dysplasia	1/1	OMIM:612394
1834	DSPP	HP:0010557	Overlapping fingers	1/2	OMIM:612394
1834	DSPP	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
1834	DSPP	HP:0003593	Infantile onset	1/5	OMIM:259770
1834	DSPP	HP:0003593	Infantile onset	7/7	OMIM:125420
1834	DSPP	HP:0003577	Congenital onset	4/5	OMIM:259770
1834	DSPP	HP:0002208	Coarse hair	1/1	OMIM:612394
1834	DSPP	HP:0009722	Dental enamel pits	-	OMIM:125500
1834	DSPP	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
1834	DSPP	HP:0025019	Arterial rupture	1/1	OMIM:612394
1834	DSPP	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
1834	DSPP	HP:0001089	Iris atrophy	-	OMIM:259770
1834	DSPP	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
1834	DSPP	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
1834	DSPP	HP:0000618	Blindness	5/5	OMIM:259770
1834	DSPP	HP:0000694	Odontodysplasia	-	OMIM:125500
1834	DSPP	HP:0000667	Phthisis bulbi	-	OMIM:259770
1834	DSPP	HP:0004322	Short stature	-	OMIM:259770
1834	DSPP	HP:0003016	Metaphyseal widening	-	OMIM:259770
1834	DSPP	HP:0009102	Anterior open-bite malocclusion	-	OMIM:125500
1834	DSPP	HP:0000700	Periapical bone loss	-	OMIM:125500
1834	DSPP	HP:0000703	Dentinogenesis imperfecta	-	OMIM:125500
1834	DSPP	HP:0000703	Dentinogenesis imperfecta	-	OMIM:125490
1834	DSPP	HP:0000703	Dentinogenesis imperfecta	-	OMIM:605594
1834	DSPP	HP:0011461	Fetal onset	2/2	OMIM:612394
1834	DSPP	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
1834	DSPP	HP:0003196	Short nose	1/1	OMIM:612394
1834	DSPP	HP:0000926	Platyspondyly	-	OMIM:259770
1834	DSPP	HP:0000926	Platyspondyly	1/1	OMIM:612394
1834	DSPP	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
1834	DSPP	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
1834	DSPP	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
1834	DSPP	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
1834	DSPP	HP:0000939	Osteoporosis	4/5	OMIM:259770
1834	DSPP	HP:0000938	Osteopenia	1/5	OMIM:259770
1834	DSPP	HP:0000938	Osteopenia	1/1	OMIM:612394
1834	DSPP	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
1834	DSPP	HP:0000272	Malar flattening	1/1	OMIM:612394
1834	DSPP	HP:0007773	Vitreoretinopathy	-	OMIM:259770
1834	DSPP	HP:0005101	High-frequency hearing impairment	-	OMIM:605594
1834	DSPP	HP:0002808	Kyphosis	1/5	OMIM:259770
1834	DSPP	HP:0000252	Microcephaly	-	OMIM:259770
1834	DSPP	HP:0001552	Barrel-shaped chest	-	OMIM:259770
1834	DSPP	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
1834	DSPP	HP:0011060	Dentinogenesis imperfecta limited to primary teeth	7/7	OMIM:125420
1834	DSPP	HP:0012368	Flat face	1/1	OMIM:612394
1834	DSPP	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
1834	DSPP	HP:0007875	Congenital blindness	4/5	OMIM:259770
1834	DSPP	HP:0007862	Retinal calcification	1/5	OMIM:259770
1834	DSPP	HP:0000360	Tinnitus	-	OMIM:605594
1834	DSPP	HP:0000369	Low-set ears	2/2	OMIM:612394
1834	DSPP	HP:0002982	Tibial bowing	1/5	OMIM:259770
1834	DSPP	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
1834	DSPP	HP:0001629	Ventricular septal defect	-	OMIM:259770
1834	DSPP	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
1834	DSPP	HP:0000307	Pointed chin	1/2	OMIM:612394
1834	DSPP	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
1834	DSPP	HP:0000463	Anteverted nares	1/1	OMIM:612394
1834	DSPP	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
1834	DSPP	HP:0000518	Cataract	1/5	OMIM:259770
1834	DSPP	HP:0000518	Cataract	1/1	OMIM:612394
1834	DSPP	HP:0000586	Shallow orbits	1/1	OMIM:612394
1834	DSPP	HP:0000568	Microphthalmia	1/5	OMIM:259770
1834	DSPP	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
1834	DSPP	HP:0000545	Myopia	1/1	OMIM:612394
1836	SLC26A2	HP:0001156	Brachydactyly	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0001156	Brachydactyly	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0001156	Brachydactyly	-	OMIM:226900
1836	SLC26A2	HP:0001156	Brachydactyly	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0001123	Visual field defect	-	OMIM:143200
1836	SLC26A2	HP:0008608	Hypertrophic auricular cartilage	-	OMIM:222600
1836	SLC26A2	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0009890	High anterior hairline	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1836	SLC26A2	HP:0025264	Stiff ankle	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0001293	Cranial nerve compression	-	OMIM:131300
1836	SLC26A2	HP:0001270	Motor delay	-	OMIM:156550
1836	SLC26A2	HP:0001288	Gait disturbance	-	OMIM:156550
1836	SLC26A2	HP:0001252	Hypotonia	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0001252	Hypotonia	2/7	OMIM:615777
1836	SLC26A2	HP:0001249	Intellectual disability	0/12	OMIM:222600
1836	SLC26A2	HP:0001249	Intellectual disability	5/7	OMIM:615777
1836	SLC26A2	HP:0001263	Global developmental delay	-	OMIM:615777
1836	SLC26A2	HP:0001234	Hitchhiker thumb	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0001234	Hitchhiker thumb	11/11	OMIM:256050
1836	SLC26A2	HP:0001234	Hitchhiker thumb	-	OMIM:222600
1836	SLC26A2	HP:0001234	Hitchhiker thumb	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0001230	Broad metacarpals	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0008752	Laryngeal cartilage malformation	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0100864	Short femoral neck	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0006009	Broad phalanx	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0003864	Bifid humerus	-	OMIM:256050
1836	SLC26A2	HP:0002515	Waddling gait	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0002515	Waddling gait	54/102	OMIM:131300
1836	SLC26A2	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0003826	Stillbirth	-	OMIM:600972
1836	SLC26A2	HP:0003826	Stillbirth	2/3	OMIM:256050
1836	SLC26A2	HP:0031006	Acroparesthesia	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0006095	Wide tufts of distal phalanges	-	OMIM:154780
1836	SLC26A2	HP:0008807	Acetabular dysplasia	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0008802	Hypoplasia of the femoral head	-	OMIM:226900
1836	SLC26A2	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0001376	Limitation of joint mobility	-	OMIM:156550
1836	SLC26A2	HP:0001371	Flexion contracture	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0001373	Joint dislocation	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0001385	Hip dysplasia	-	OMIM:226900
1836	SLC26A2	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0001387	Joint stiffness	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0001387	Joint stiffness	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0001382	Joint hypermobility	-	OMIM:615777
1836	SLC26A2	HP:0012019	Lens luxation	-	OMIM:154780
1836	SLC26A2	HP:0000023	Inguinal hernia	-	OMIM:156550
1836	SLC26A2	HP:0000023	Inguinal hernia	-	OMIM:600972
1836	SLC26A2	HP:0002684	Thickened calvaria	-	OMIM:154780
1836	SLC26A2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1836	SLC26A2	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:56304
1836	SLC26A2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0002688	Absent frontal sinuses	-	OMIM:154780
1836	SLC26A2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1836	SLC26A2	HP:0008873	Disproportionate short-limb short stature	12/12	OMIM:222600
1836	SLC26A2	HP:0008848	Moderately short stature	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0008839	Hypoplastic pelvis	-	OMIM:156550
1836	SLC26A2	HP:0008829	Delayed femoral head ossification	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0006172	Flattened, squared-off epiphyses of tubular bones	-	OMIM:156550
1836	SLC26A2	HP:0031174	Double-layered patella	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0031174	Double-layered patella	7/10	OMIM:226900
1836	SLC26A2	HP:0002663	Delayed epiphyseal ossification	-	OMIM:156550
1836	SLC26A2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1836	SLC26A2	HP:0002656	Epiphyseal dysplasia	-	OMIM:184840
1836	SLC26A2	HP:0002656	Epiphyseal dysplasia	-	OMIM:226900
1836	SLC26A2	HP:0001324	Muscle weakness	40/96	OMIM:131300
1836	SLC26A2	HP:0002654	Multiple epiphyseal dysplasia	-	OMIM:226900
1836	SLC26A2	HP:0002654	Multiple epiphyseal dysplasia	HP:0040281	ORPHA:93307
1836	SLC26A2	HP:0002673	Coxa valga	-	OMIM:154780
1836	SLC26A2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1836	SLC26A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:600972
1836	SLC26A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1836	SLC26A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:256050
1836	SLC26A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:222600
1836	SLC26A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:226900
1836	SLC26A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:154780
1836	SLC26A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:156550
1836	SLC26A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:143200
1836	SLC26A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1836	SLC26A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:184840
1836	SLC26A2	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:93307
1836	SLC26A2	HP:0002650	Scoliosis	-	OMIM:256050
1836	SLC26A2	HP:0002650	Scoliosis	3/12	OMIM:222600
1836	SLC26A2	HP:0002650	Scoliosis	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0002650	Scoliosis	12/14	OMIM:131300
1836	SLC26A2	HP:0002650	Scoliosis	-	OMIM:226900
1836	SLC26A2	HP:0002650	Scoliosis	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1836	SLC26A2	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:256050
1836	SLC26A2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1836	SLC26A2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1836	SLC26A2	HP:0008921	Neonatal short-limb short stature	-	OMIM:600972
1836	SLC26A2	HP:0008921	Neonatal short-limb short stature	-	OMIM:222600
1836	SLC26A2	HP:0008921	Neonatal short-limb short stature	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0008905	Rhizomelia	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0008905	Rhizomelia	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0008905	Rhizomelia	1/1	OMIM:156550
1836	SLC26A2	HP:0000179	Thick lower lip vermilion	-	OMIM:154780
1836	SLC26A2	HP:0000193	Bifid uvula	4/9	OMIM:154780
1836	SLC26A2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1836	SLC26A2	HP:0000160	Narrow mouth	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0000175	Cleft palate	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0000175	Cleft palate	-	OMIM:184840
1836	SLC26A2	HP:0000175	Cleft palate	1/1	OMIM:156550
1836	SLC26A2	HP:0000175	Cleft palate	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0000175	Cleft palate	-	OMIM:256050
1836	SLC26A2	HP:0000175	Cleft palate	4/9	OMIM:154780
1836	SLC26A2	HP:0000175	Cleft palate	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0000175	Cleft palate	2/7	OMIM:615777
1836	SLC26A2	HP:0000175	Cleft palate	8/12	OMIM:222600
1836	SLC26A2	HP:0007643	Peripheral tractional retinal detachment	-	OMIM:143200
1836	SLC26A2	HP:0002779	Tracheomalacia	-	OMIM:156550
1836	SLC26A2	HP:0002786	Tracheobronchomalacia	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0001440	Metatarsal synostosis	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0002751	Kyphoscoliosis	-	OMIM:222600
1836	SLC26A2	HP:0003365	Arthralgia of the hip	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0004664	Facial midline hemangioma	HP:0040283	ORPHA:56304
1836	SLC26A2	HP:0002007	Frontal bossing	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0003336	Abnormal enchondral ossification	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0004619	Lumbar kyphoscoliosis	-	OMIM:156550
1836	SLC26A2	HP:0011800	Midface retrusion	HP:0040283	ORPHA:56304
1836	SLC26A2	HP:0011800	Midface retrusion	-	OMIM:184840
1836	SLC26A2	HP:0011800	Midface retrusion	-	OMIM:156550
1836	SLC26A2	HP:0011800	Midface retrusion	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0011800	Midface retrusion	-	OMIM:256050
1836	SLC26A2	HP:0011800	Midface retrusion	9/9	OMIM:154780
1836	SLC26A2	HP:0100541	Femoral hernia	HP:0040282	ORPHA:93298
1836	SLC26A2	HP:0002089	Pulmonary hypoplasia	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0002089	Pulmonary hypoplasia	-	OMIM:256050
1836	SLC26A2	HP:0002098	Respiratory distress	-	OMIM:156550
1836	SLC26A2	HP:0002093	Respiratory insufficiency	-	OMIM:600972
1836	SLC26A2	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0002093	Respiratory insufficiency	-	OMIM:256050
1836	SLC26A2	HP:0003370	Flat capital femoral epiphysis	-	OMIM:226900
1836	SLC26A2	HP:0003388	Easy fatigability	36/76	OMIM:131300
1836	SLC26A2	HP:0009465	Ulnar deviation of finger	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0009465	Ulnar deviation of finger	-	OMIM:222600
1836	SLC26A2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1836	SLC26A2	HP:0008110	Equinovarus deformity	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0005922	Abnormal hand morphology	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0005916	Abnormal metacarpal morphology	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0009487	Ulnar deviation of the hand	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0003440	Horizontal sacrum	-	OMIM:256050
1836	SLC26A2	HP:0003423	Thoracolumbar kyphoscoliosis	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0003417	Coronal cleft vertebrae	-	OMIM:256050
1836	SLC26A2	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:156550
1836	SLC26A2	HP:0009623	Proximal placement of thumb	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0003498	Disproportionate short stature	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0003498	Disproportionate short stature	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0002176	Spinal cord compression	-	OMIM:222600
1836	SLC26A2	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0008271	Abnormal cartilage collagen	-	OMIM:156550
1836	SLC26A2	HP:0010580	Enlarged epiphyses	-	OMIM:184840
1836	SLC26A2	HP:0010582	Irregular epiphyses	-	OMIM:222600
1836	SLC26A2	HP:0003577	Congenital onset	12/12	OMIM:222600
1836	SLC26A2	HP:0003577	Congenital onset	1/1	OMIM:156550
1836	SLC26A2	HP:0003577	Congenital onset	-	OMIM:600972
1836	SLC26A2	HP:0004894	Laryngotracheal stenosis	-	OMIM:222600
1836	SLC26A2	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0010723	Cystic lesions of the pinnae	-	OMIM:222600
1836	SLC26A2	HP:0009748	Large earlobe	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0100761	Visceral angiomatosis	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0003510	Severe short stature	7/7	OMIM:615777
1836	SLC26A2	HP:0003510	Severe short stature	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:156550
1836	SLC26A2	HP:0001052	Nevus flammeus	3/12	OMIM:222600
1836	SLC26A2	HP:0002315	Headache	-	OMIM:131300
1836	SLC26A2	HP:0004976	Knee dislocation	6/7	OMIM:615777
1836	SLC26A2	HP:0004991	Rhizomelic arm shortening	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0200003	Splayed epiphyses	-	OMIM:156550
1836	SLC26A2	HP:0009826	Limb undergrowth	HP:0040281	ORPHA:56304
1836	SLC26A2	HP:0009826	Limb undergrowth	-	OMIM:256050
1836	SLC26A2	HP:0009824	Upper limb undergrowth	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0009824	Upper limb undergrowth	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0001076	Glabellar hemangioma	-	OMIM:222600
1836	SLC26A2	HP:0009803	Short phalanx of finger	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0009803	Short phalanx of finger	-	OMIM:615777
1836	SLC26A2	HP:0100694	Tibial torsion	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0009773	Symphalangism affecting the phalanges of the hand	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0009778	Short thumb	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0010743	Short metatarsal	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0009763	Limb pain	63/92	OMIM:131300
1836	SLC26A2	HP:0008434	Hypoplastic cervical vertebrae	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0008434	Hypoplastic cervical vertebrae	HP:0040283	ORPHA:56304
1836	SLC26A2	HP:0008434	Hypoplastic cervical vertebrae	-	OMIM:222600
1836	SLC26A2	HP:0008434	Hypoplastic cervical vertebrae	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0003621	Juvenile onset	-	OMIM:131300
1836	SLC26A2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1836	SLC26A2	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0004209	Clinodactyly of the 5th finger	2/9	OMIM:154780
1836	SLC26A2	HP:0031878	Acromicria	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1836	SLC26A2	HP:6001056	Out-toeing	-	OMIM:131300
1836	SLC26A2	HP:0000651	Diplopia	-	OMIM:131300
1836	SLC26A2	HP:0000648	Optic atrophy	-	OMIM:143200
1836	SLC26A2	HP:0001956	Truncal obesity	2/7	OMIM:615777
1836	SLC26A2	HP:0001903	Anemia	HP:0040283	OMIM:131300
1836	SLC26A2	HP:0010049	Short metacarpal	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0010049	Short metacarpal	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0010049	Short metacarpal	-	OMIM:615777
1836	SLC26A2	HP:0010049	Short metacarpal	-	OMIM:226900
1836	SLC26A2	HP:0030490	Exudative vitreoretinopathy	HP:0040283	OMIM:143200
1836	SLC26A2	HP:0000678	Dental crowding	-	OMIM:615777
1836	SLC26A2	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:154780
1836	SLC26A2	HP:0000670	Carious teeth	-	OMIM:131300
1836	SLC26A2	HP:0011304	Broad thumb	2/7	OMIM:615777
1836	SLC26A2	HP:0000668	Hypodontia	-	OMIM:615777
1836	SLC26A2	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0000664	Synophrys	-	OMIM:615777
1836	SLC26A2	HP:0004322	Short stature	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0004322	Short stature	-	OMIM:226900
1836	SLC26A2	HP:0004322	Short stature	-	OMIM:154780
1836	SLC26A2	HP:0030663	Optically empty vitreous	-	OMIM:143200
1836	SLC26A2	HP:0005619	Thoracolumbar kyphosis	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0005616	Accelerated skeletal maturation	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:93298
1836	SLC26A2	HP:0003071	Flattened epiphysis	-	OMIM:222600
1836	SLC26A2	HP:0003071	Flattened epiphysis	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0003088	Premature osteoarthritis	-	OMIM:184840
1836	SLC26A2	HP:0003088	Premature osteoarthritis	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0004396	Poor appetite	-	OMIM:131300
1836	SLC26A2	HP:0003037	Enlarged joints	-	OMIM:156550
1836	SLC26A2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1836	SLC26A2	HP:0003031	Ulnar bowing	-	OMIM:154780
1836	SLC26A2	HP:0003031	Ulnar bowing	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1836	SLC26A2	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0003042	Elbow dislocation	HP:0040284	ORPHA:56304
1836	SLC26A2	HP:0003015	Flared metaphysis	-	OMIM:156550
1836	SLC26A2	HP:0003016	Metaphyseal widening	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1836	SLC26A2	HP:0003026	Short long bone	7/7	OMIM:615777
1836	SLC26A2	HP:0003026	Short long bone	-	OMIM:222600
1836	SLC26A2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1836	SLC26A2	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:93298
1836	SLC26A2	HP:0000767	Pectus excavatum	1/1	OMIM:156550
1836	SLC26A2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1836	SLC26A2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1836	SLC26A2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1836	SLC26A2	HP:0000750	Delayed speech and language development	-	OMIM:615777
1836	SLC26A2	HP:0011461	Fetal onset	7/7	OMIM:615777
1836	SLC26A2	HP:0000774	Narrow chest	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0000774	Narrow chest	-	OMIM:600972
1836	SLC26A2	HP:0000774	Narrow chest	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0000774	Narrow chest	2/7	OMIM:615777
1836	SLC26A2	HP:0000773	Short ribs	-	OMIM:600972
1836	SLC26A2	HP:0000773	Short ribs	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0005716	Lethal skeletal dysplasia	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0003196	Short nose	9/9	OMIM:154780
1836	SLC26A2	HP:0003196	Short nose	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0000926	Platyspondyly	1/9	OMIM:154780
1836	SLC26A2	HP:0000926	Platyspondyly	-	OMIM:184840
1836	SLC26A2	HP:0000926	Platyspondyly	1/7	OMIM:615777
1836	SLC26A2	HP:0000926	Platyspondyly	1/1	OMIM:156550
1836	SLC26A2	HP:0000926	Platyspondyly	-	OMIM:256050
1836	SLC26A2	HP:0003185	Short greater sciatic notch	-	OMIM:256050
1836	SLC26A2	HP:0003180	Flat acetabular roof	-	OMIM:256050
1836	SLC26A2	HP:0003180	Flat acetabular roof	-	OMIM:615777
1836	SLC26A2	HP:0004482	Relative macrocephaly	-	OMIM:615777
1836	SLC26A2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1836	SLC26A2	HP:0000889	Abnormal clavicle morphology	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0012810	Wide nasal base	HP:0040283	ORPHA:56304
1836	SLC26A2	HP:0100337	Bilateral cleft palate	HP:0040283	ORPHA:56304
1836	SLC26A2	HP:0003097	Short femur	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0000823	Delayed puberty	-	OMIM:131300
1836	SLC26A2	HP:0040025	Clinodactyly of the 4th finger	2/9	OMIM:154780
1836	SLC26A2	HP:0040072	Abnormal forearm bone morphology	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0000894	Short clavicles	-	OMIM:615777
1836	SLC26A2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1836	SLC26A2	HP:0005857	Cervical spina bifida	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0034392	Joint contracture	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0003273	Hip contracture	-	OMIM:222600
1836	SLC26A2	HP:0003273	Hip contracture	-	OMIM:156550
1836	SLC26A2	HP:0003270	Abdominal distention	-	OMIM:600972
1836	SLC26A2	HP:0004599	Absent or minimally ossified vertebral bodies	-	OMIM:600972
1836	SLC26A2	HP:0100250	Meningeal calcification	-	OMIM:154780
1836	SLC26A2	HP:0010306	Short thorax	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0000974	Hyperextensible skin	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1836	SLC26A2	HP:0000969	Edema	-	OMIM:600972
1836	SLC26A2	HP:0000947	Dumbbell-shaped long bone	-	OMIM:156550
1836	SLC26A2	HP:0000946	Hypoplastic ilia	-	OMIM:154780
1836	SLC26A2	HP:0000946	Hypoplastic ilia	-	OMIM:600972
1836	SLC26A2	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0005819	Short middle phalanx of finger	-	OMIM:256050
1836	SLC26A2	HP:0009381	Short finger	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0009381	Short finger	-	OMIM:222600
1836	SLC26A2	HP:0009381	Short finger	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:143200
1836	SLC26A2	HP:0012283	Small distal femoral epiphysis	-	OMIM:154780
1836	SLC26A2	HP:0012284	Small proximal tibial epiphyses	-	OMIM:154780
1836	SLC26A2	HP:0000286	Epicanthus	HP:0040283	ORPHA:56304
1836	SLC26A2	HP:0000286	Epicanthus	-	OMIM:154780
1836	SLC26A2	HP:0000286	Epicanthus	1/7	OMIM:615777
1836	SLC26A2	HP:0000280	Coarse facial features	2/7	OMIM:615777
1836	SLC26A2	HP:0000293	Full cheeks	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0001591	Bell-shaped thorax	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0000256	Macrocephaly	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0000256	Macrocephaly	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0000272	Malar flattening	-	OMIM:154780
1836	SLC26A2	HP:0000272	Malar flattening	27/28	OMIM:184840
1836	SLC26A2	HP:0000272	Malar flattening	-	OMIM:600972
1836	SLC26A2	HP:0000272	Malar flattening	1/1	OMIM:156550
1836	SLC26A2	HP:0000272	Malar flattening	-	OMIM:256050
1836	SLC26A2	HP:0006456	Irregular proximal tibial epiphyses	-	OMIM:154780
1836	SLC26A2	HP:0007773	Vitreoretinopathy	-	OMIM:154780
1836	SLC26A2	HP:0007773	Vitreoretinopathy	-	OMIM:143200
1836	SLC26A2	HP:0006429	Broad femoral neck	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0006407	Irregular distal femoral epiphysis	-	OMIM:154780
1836	SLC26A2	HP:0002812	Coxa vara	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0002812	Coxa vara	-	OMIM:156550
1836	SLC26A2	HP:0002829	Arthralgia	20/20	OMIM:184840
1836	SLC26A2	HP:0002829	Arthralgia	-	OMIM:226900
1836	SLC26A2	HP:0002829	Arthralgia	HP:0040281	ORPHA:93307
1836	SLC26A2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0002827	Hip dislocation	3/7	OMIM:615777
1836	SLC26A2	HP:0002827	Hip dislocation	-	OMIM:156550
1836	SLC26A2	HP:0005086	Knee osteoarthritis	-	OMIM:154780
1836	SLC26A2	HP:0002808	Kyphosis	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0006385	Short lower limbs	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0006375	Dumbbell-shaped femur	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0006375	Dumbbell-shaped femur	1/1	OMIM:156550
1836	SLC26A2	HP:0006375	Dumbbell-shaped femur	-	OMIM:256050
1836	SLC26A2	HP:0006376	Limited elbow flexion	-	OMIM:226900
1836	SLC26A2	HP:0006361	Irregular femoral epiphysis	-	OMIM:154780
1836	SLC26A2	HP:0032649	Skewfoot	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0000252	Microcephaly	-	OMIM:615777
1836	SLC26A2	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:56304
1836	SLC26A2	HP:0000218	High palate	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0000215	Thick upper lip vermilion	-	OMIM:154780
1836	SLC26A2	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:56304
1836	SLC26A2	HP:0001561	Polyhydramnios	-	OMIM:600972
1836	SLC26A2	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:93298
1836	SLC26A2	HP:0002857	Genu valgum	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0002857	Genu valgum	-	OMIM:131300
1836	SLC26A2	HP:0002857	Genu valgum	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0002857	Genu valgum	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0002857	Genu valgum	10/12	OMIM:222600
1836	SLC26A2	HP:0001522	Death in infancy	1/1	OMIM:256050
1836	SLC26A2	HP:0001537	Umbilical hernia	-	OMIM:600972
1836	SLC26A2	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:93298
1836	SLC26A2	HP:0001537	Umbilical hernia	-	OMIM:156550
1836	SLC26A2	HP:0001538	Protuberant abdomen	HP:0040283	ORPHA:56304
1836	SLC26A2	HP:0001533	Slender build	-	OMIM:131300
1836	SLC26A2	HP:0000201	Pierre-Robin sequence	4/9	OMIM:154780
1836	SLC26A2	HP:0000201	Pierre-Robin sequence	-	OMIM:184840
1836	SLC26A2	HP:0001518	Small for gestational age	10/10	OMIM:222600
1836	SLC26A2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1836	SLC26A2	HP:0007807	Optic nerve compression	-	OMIM:131300
1836	SLC26A2	HP:0012385	Camptodactyly	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0012368	Flat face	7/7	OMIM:615777
1836	SLC26A2	HP:0012368	Flat face	-	OMIM:600972
1836	SLC26A2	HP:0012368	Flat face	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0000396	Overfolded helix	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0005257	Thoracic hypoplasia	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0005257	Thoracic hypoplasia	-	OMIM:256050
1836	SLC26A2	HP:0006536	Airway obstruction	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0001609	Hoarse voice	-	OMIM:222600
1836	SLC26A2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1836	SLC26A2	HP:0002938	Lumbar hyperlordosis	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0002938	Lumbar hyperlordosis	7/12	OMIM:222600
1836	SLC26A2	HP:0002938	Lumbar hyperlordosis	-	OMIM:256050
1836	SLC26A2	HP:0001602	Laryngeal stenosis	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0002947	Cervical kyphosis	HP:0040283	ORPHA:56304
1836	SLC26A2	HP:0002947	Cervical kyphosis	-	OMIM:256050
1836	SLC26A2	HP:0002947	Cervical kyphosis	-	OMIM:222600
1836	SLC26A2	HP:0002947	Cervical kyphosis	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0002947	Cervical kyphosis	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0000363	Abnormal earlobe morphology	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0000365	Hearing impairment	-	OMIM:222600
1836	SLC26A2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0000365	Hearing impairment	10/67	OMIM:131300
1836	SLC26A2	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0000369	Low-set ears	HP:0040283	ORPHA:56304
1836	SLC26A2	HP:0000369	Low-set ears	-	OMIM:154780
1836	SLC26A2	HP:0000369	Low-set ears	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0000343	Long philtrum	HP:0040283	ORPHA:56304
1836	SLC26A2	HP:0000343	Long philtrum	-	OMIM:154780
1836	SLC26A2	HP:0000343	Long philtrum	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0000343	Long philtrum	1/7	OMIM:615777
1836	SLC26A2	HP:0011001	Increased bone mineral density	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0011001	Increased bone mineral density	-	OMIM:131300
1836	SLC26A2	HP:0000337	Broad forehead	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0002999	Patellar dislocation	7/12	OMIM:222600
1836	SLC26A2	HP:0000347	Micrognathia	HP:0040283	ORPHA:56304
1836	SLC26A2	HP:0000347	Micrognathia	-	OMIM:256050
1836	SLC26A2	HP:0000347	Micrognathia	-	OMIM:154780
1836	SLC26A2	HP:0000347	Micrognathia	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0000347	Micrognathia	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0000347	Micrognathia	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0002982	Tibial bowing	1/1	OMIM:156550
1836	SLC26A2	HP:0002983	Micromelia	HP:0040283	ORPHA:56304
1836	SLC26A2	HP:0002983	Micromelia	-	OMIM:600972
1836	SLC26A2	HP:0002983	Micromelia	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0002983	Micromelia	-	OMIM:256050
1836	SLC26A2	HP:0002983	Micromelia	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:56304
1836	SLC26A2	HP:0000316	Hypertelorism	-	OMIM:154780
1836	SLC26A2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0000311	Round face	2/7	OMIM:615777
1836	SLC26A2	HP:0000311	Round face	-	OMIM:156550
1836	SLC26A2	HP:0000331	Short chin	9/12	OMIM:222600
1836	SLC26A2	HP:0002986	Radial bowing	-	OMIM:154780
1836	SLC26A2	HP:0002986	Radial bowing	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:56304
1836	SLC26A2	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0001623	Breech presentation	-	OMIM:600972
1836	SLC26A2	HP:0002970	Genu varum	-	OMIM:615777
1836	SLC26A2	HP:0002970	Genu varum	1/1	OMIM:156550
1836	SLC26A2	HP:0000303	Mandibular prognathia	-	OMIM:131300
1836	SLC26A2	HP:0032930	Lacunar halos around chondrocytes	-	OMIM:256050
1836	SLC26A2	HP:0030320	Increased intervertebral space	1/1	OMIM:256050
1836	SLC26A2	HP:0004037	Abnormal ulnar epiphysis morphology	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0004002	Flattened radial epiphyses	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0006646	Costal cartilage calcification	-	OMIM:222600
1836	SLC26A2	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:154780
1836	SLC26A2	HP:0000407	Sensorineural hearing impairment	16/28	OMIM:184840
1836	SLC26A2	HP:0000403	Recurrent otitis media	4/9	OMIM:154780
1836	SLC26A2	HP:0000403	Recurrent otitis media	-	OMIM:156550
1836	SLC26A2	HP:0000405	Conductive hearing impairment	-	OMIM:156550
1836	SLC26A2	HP:0000402	Stenosis of the external auditory canal	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0005280	Depressed nasal bridge	27/28	OMIM:184840
1836	SLC26A2	HP:0005280	Depressed nasal bridge	-	OMIM:156550
1836	SLC26A2	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:628
1836	SLC26A2	HP:0005280	Depressed nasal bridge	-	OMIM:256050
1836	SLC26A2	HP:0005280	Depressed nasal bridge	9/9	OMIM:154780
1836	SLC26A2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1836	SLC26A2	HP:0000476	Cystic hygroma	HP:0040283	ORPHA:93298
1836	SLC26A2	HP:0000478	Abnormality of the eye	0/3	OMIM:184840
1836	SLC26A2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0000463	Anteverted nares	27/28	OMIM:184840
1836	SLC26A2	HP:0000463	Anteverted nares	-	OMIM:154780
1836	SLC26A2	HP:0000463	Anteverted nares	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0000460	Narrow nose	HP:0040283	ORPHA:628
1836	SLC26A2	HP:0001789	Hydrops fetalis	-	OMIM:600972
1836	SLC26A2	HP:0001789	Hydrops fetalis	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0000470	Short neck	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0000470	Short neck	-	OMIM:156550
1836	SLC26A2	HP:0000470	Short neck	-	OMIM:256050
1836	SLC26A2	HP:0000470	Short neck	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0000470	Short neck	1/7	OMIM:615777
1836	SLC26A2	HP:0001773	Short foot	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0012427	Increased femoral anteversion	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1836	SLC26A2	HP:0001769	Broad foot	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0001763	Pes planus	1/7	OMIM:615777
1836	SLC26A2	HP:0001776	Bilateral talipes equinovarus	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0001776	Bilateral talipes equinovarus	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0001762	Talipes equinovarus	-	OMIM:256050
1836	SLC26A2	HP:0001762	Talipes equinovarus	-	OMIM:226900
1836	SLC26A2	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:93298
1836	SLC26A2	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0001762	Talipes equinovarus	7/12	OMIM:222600
1836	SLC26A2	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0030289	Flattened femoral epiphysis	HP:0040282	ORPHA:93307
1836	SLC26A2	HP:0025707	Hypoplastic fetal nasal bone	-	OMIM:154780
1836	SLC26A2	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040281	ORPHA:93298
1836	SLC26A2	HP:0005462	Calcification of falx cerebri	-	OMIM:154780
1836	SLC26A2	HP:0000518	Cataract	-	OMIM:156550
1836	SLC26A2	HP:0000518	Cataract	-	OMIM:143200
1836	SLC26A2	HP:0000518	Cataract	9/9	OMIM:154780
1836	SLC26A2	HP:0001840	Metatarsus adductus	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0001840	Metatarsus adductus	-	OMIM:615777
1836	SLC26A2	HP:0001852	Sandal gap	HP:0040282	ORPHA:56304
1836	SLC26A2	HP:0001852	Sandal gap	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0001852	Sandal gap	-	OMIM:256050
1836	SLC26A2	HP:0000520	Proptosis	2/4	OMIM:131300
1836	SLC26A2	HP:0000520	Proptosis	7/7	OMIM:615777
1836	SLC26A2	HP:0000520	Proptosis	-	OMIM:156550
1836	SLC26A2	HP:0000506	Telecanthus	HP:0040283	ORPHA:56304
1836	SLC26A2	HP:0000501	Glaucoma	-	OMIM:154780
1836	SLC26A2	HP:0000501	Glaucoma	-	OMIM:143200
1836	SLC26A2	HP:0001831	Short toe	HP:0040283	ORPHA:93307
1836	SLC26A2	HP:0000592	Blue sclerae	2/7	OMIM:615777
1836	SLC26A2	HP:0000592	Blue sclerae	HP:0040282	ORPHA:628
1836	SLC26A2	HP:0000572	Visual loss	-	OMIM:143200
1836	SLC26A2	HP:0000565	Esotropia	-	OMIM:154780
1836	SLC26A2	HP:0000541	Retinal detachment	-	OMIM:154780
1836	SLC26A2	HP:0000541	Retinal detachment	-	OMIM:156550
1836	SLC26A2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1836	SLC26A2	HP:0000533	Chorioretinal atrophy	-	OMIM:143200
1836	SLC26A2	HP:0012514	Lower limb pain	4/4	OMIM:131300
1836	SLC26A2	HP:0000545	Myopia	1/1	OMIM:156550
1836	SLC26A2	HP:0000545	Myopia	-	OMIM:143200
1836	SLC26A2	HP:0000545	Myopia	9/9	OMIM:154780
1837	DTNA	HP:0000006	Autosomal dominant inheritance	-	OMIM:604169
1837	DTNA	HP:0011705	First degree atrioventricular block	1/1	OMIM:604169
1837	DTNA	HP:0003577	Congenital onset	5/6	OMIM:604169
1837	DTNA	HP:0003581	Adult onset	1/6	OMIM:604169
1837	DTNA	HP:0001962	Palpitations	1/1	OMIM:604169
1837	DTNA	HP:0004308	Ventricular arrhythmia	-	OMIM:604169
1837	DTNA	HP:0030682	Left ventricular noncompaction	7/7	OMIM:604169
1837	DTNA	HP:0004383	Hypoplastic left heart	1/6	OMIM:604169
1837	DTNA	HP:0011462	Young adult onset	1/1	OMIM:604169
1837	DTNA	HP:0012817	Noncompaction cardiomyopathy	1/1	OMIM:604169
1837	DTNA	HP:0011664	Left ventricular noncompaction cardiomyopathy	-	OMIM:604169
1837	DTNA	HP:0005110	Atrial fibrillation	-	OMIM:604169
1837	DTNA	HP:0031352	Chest tightness	1/1	OMIM:604169
1837	DTNA	HP:0001643	Patent ductus arteriosus	1/6	OMIM:604169
1837	DTNA	HP:0001645	Sudden cardiac death	-	OMIM:604169
1837	DTNA	HP:0001653	Mitral regurgitation	-	OMIM:604169
1837	DTNA	HP:0001629	Ventricular septal defect	5/6	OMIM:604169
1837	DTNA	HP:0001635	Congestive heart failure	-	OMIM:604169
1837	DTNA	HP:0001712	Left ventricular hypertrophy	-	OMIM:604169
1841	DTYMK	HP:0002451	Limb dystonia	1/2	OMIM:619847
1841	DTYMK	HP:0001276	Hypertonia	1/2	OMIM:619847
1841	DTYMK	HP:0001250	Seizure	1/2	OMIM:619847
1841	DTYMK	HP:0001252	Hypotonia	2/2	OMIM:619847
1841	DTYMK	HP:0001249	Intellectual disability	1/1	OMIM:619847
1841	DTYMK	HP:0001263	Global developmental delay	4/4	OMIM:619847
1841	DTYMK	HP:0001257	Spasticity	1/2	OMIM:619847
1841	DTYMK	HP:0002510	Spastic tetraplegia	1/2	OMIM:619847
1841	DTYMK	HP:0003819	Death in childhood	2/2	OMIM:619847
1841	DTYMK	HP:0000054	Micropenis	1/2	OMIM:619847
1841	DTYMK	HP:0001347	Hyperreflexia	1/2	OMIM:619847
1841	DTYMK	HP:0000028	Cryptorchidism	2/4	OMIM:619847
1841	DTYMK	HP:0000007	Autosomal recessive inheritance	-	OMIM:619847
1841	DTYMK	HP:0001336	Myoclonus	1/2	OMIM:619847
1841	DTYMK	HP:0003348	Hyperalaninemia	1/2	OMIM:619847
1841	DTYMK	HP:0002015	Dysphagia	1/2	OMIM:619847
1841	DTYMK	HP:0002059	Cerebral atrophy	3/4	OMIM:619847
1841	DTYMK	HP:0003487	Babinski sign	1/2	OMIM:619847
1841	DTYMK	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:619847
1841	DTYMK	HP:0002133	Status epilepticus	1/2	OMIM:619847
1841	DTYMK	HP:0002169	Clonus	1/2	OMIM:619847
1841	DTYMK	HP:0002179	Opisthotonus	1/2	OMIM:619847
1841	DTYMK	HP:0002171	Gliosis	1/2	OMIM:619847
1841	DTYMK	HP:0003593	Infantile onset	2/2	OMIM:619847
1841	DTYMK	HP:0003577	Congenital onset	2/2	OMIM:619847
1841	DTYMK	HP:0100704	Cerebral visual impairment	1/2	OMIM:619847
1841	DTYMK	HP:0011968	Feeding difficulties	1/2	OMIM:619847
1841	DTYMK	HP:0002376	Developmental regression	1/2	OMIM:619847
1841	DTYMK	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/2	OMIM:619847
1841	DTYMK	HP:0033454	Tube feeding	1/2	OMIM:619847
1841	DTYMK	HP:0004322	Short stature	1/2	OMIM:619847
1841	DTYMK	HP:0006956	Lateral ventricle dilatation	1/2	OMIM:619847
1841	DTYMK	HP:0100021	Cerebral palsy	1/2	OMIM:619847
1841	DTYMK	HP:0012704	Widened subarachnoid space	2/2	OMIM:619847
1841	DTYMK	HP:0011451	Primary microcephaly	2/2	OMIM:619847
1841	DTYMK	HP:0000293	Full cheeks	1/2	OMIM:619847
1841	DTYMK	HP:0000252	Microcephaly	1/2	OMIM:619847
1841	DTYMK	HP:0002878	Respiratory failure	1/2	OMIM:619847
1841	DTYMK	HP:0001561	Polyhydramnios	1/2	OMIM:619847
1841	DTYMK	HP:0001518	Small for gestational age	1/2	OMIM:619847
1841	DTYMK	HP:0001601	Laryngomalacia	1/2	OMIM:619847
1841	DTYMK	HP:0000341	Narrow forehead	1/2	OMIM:619847
1841	DTYMK	HP:0001623	Breech presentation	1/2	OMIM:619847
1841	DTYMK	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:619847
1848	DUSP6	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:432
1848	DUSP6	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
1848	DUSP6	HP:0001250	Seizure	HP:0040283	ORPHA:478
1848	DUSP6	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
1848	DUSP6	HP:0001251	Ataxia	HP:0040283	ORPHA:478
1848	DUSP6	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
1848	DUSP6	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:432
1848	DUSP6	HP:0008734	Decreased testicular size	1/1	OMIM:146110
1848	DUSP6	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
1848	DUSP6	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
1848	DUSP6	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:432
1848	DUSP6	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:432
1848	DUSP6	HP:0000044	Hypogonadotropic hypogonadism	5/5	OMIM:615269
1848	DUSP6	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
1848	DUSP6	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
1848	DUSP6	HP:0000054	Micropenis	1/1	OMIM:146110
1848	DUSP6	HP:0000054	Micropenis	HP:0040281	ORPHA:478
1848	DUSP6	HP:0000054	Micropenis	HP:0040281	ORPHA:432
1848	DUSP6	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:432
1848	DUSP6	HP:0000028	Cryptorchidism	-	OMIM:146110
1848	DUSP6	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
1848	DUSP6	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:432
1848	DUSP6	HP:0000027	Azoospermia	HP:0040281	ORPHA:432
1848	DUSP6	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:432
1848	DUSP6	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
1848	DUSP6	HP:0000013	Hypoplasia of the uterus	HP:0040282	ORPHA:432
1848	DUSP6	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
1848	DUSP6	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
1848	DUSP6	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
1848	DUSP6	HP:0001337	Tremor	HP:0040283	ORPHA:478
1848	DUSP6	HP:0000006	Autosomal dominant inheritance	-	OMIM:615269
1848	DUSP6	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
1848	DUSP6	HP:0000164	Abnormality of the dentition	2/5	OMIM:615269
1848	DUSP6	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:432
1848	DUSP6	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
1848	DUSP6	HP:0000175	Cleft palate	HP:0040283	ORPHA:432
1848	DUSP6	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
1848	DUSP6	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:432
1848	DUSP6	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:432
1848	DUSP6	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:432
1848	DUSP6	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
1848	DUSP6	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
1848	DUSP6	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
1848	DUSP6	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:432
1848	DUSP6	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:432
1848	DUSP6	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:432
1848	DUSP6	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
1848	DUSP6	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
1848	DUSP6	HP:0002231	Sparse body hair	HP:0040281	ORPHA:432
1848	DUSP6	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
1848	DUSP6	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:432
1848	DUSP6	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:432
1848	DUSP6	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
1848	DUSP6	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
1848	DUSP6	HP:0003621	Juvenile onset	2/2	OMIM:146110
1848	DUSP6	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
1848	DUSP6	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
1848	DUSP6	HP:0000802	Impotence	HP:0040281	ORPHA:432
1848	DUSP6	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
1848	DUSP6	HP:0000771	Gynecomastia	HP:0040282	ORPHA:432
1848	DUSP6	HP:0000771	Gynecomastia	0/1	OMIM:146110
1848	DUSP6	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
1848	DUSP6	HP:0000739	Anxiety	HP:0040282	ORPHA:432
1848	DUSP6	HP:0000716	Depression	HP:0040282	ORPHA:432
1848	DUSP6	HP:0000789	Infertility	HP:0040283	OMIM:146110
1848	DUSP6	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:432
1848	DUSP6	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
1848	DUSP6	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
1848	DUSP6	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
1848	DUSP6	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
1848	DUSP6	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:432
1848	DUSP6	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
1848	DUSP6	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
1848	DUSP6	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:432
1848	DUSP6	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
1848	DUSP6	HP:0000823	Delayed puberty	HP:0040282	ORPHA:432
1848	DUSP6	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
1848	DUSP6	HP:0000939	Osteoporosis	HP:0040283	OMIM:615269
1848	DUSP6	HP:0000939	Osteoporosis	HP:0040282	ORPHA:432
1848	DUSP6	HP:0000938	Osteopenia	2/5	OMIM:615269
1848	DUSP6	HP:0000938	Osteopenia	HP:0040282	ORPHA:432
1848	DUSP6	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:432
1848	DUSP6	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
1848	DUSP6	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
1848	DUSP6	HP:0030019	Increased female libido	HP:0040281	ORPHA:432
1848	DUSP6	HP:0001513	Obesity	HP:0040283	ORPHA:478
1848	DUSP6	HP:0012385	Camptodactyly	HP:0040283	ORPHA:432
1848	DUSP6	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:432
1848	DUSP6	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
1848	DUSP6	HP:0000365	Hearing impairment	1/5	OMIM:615269
1848	DUSP6	HP:0000316	Hypertelorism	HP:0040283	ORPHA:432
1848	DUSP6	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:432
1848	DUSP6	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
1848	DUSP6	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:432
1848	DUSP6	HP:0000458	Anosmia	HP:0040281	ORPHA:478
1848	DUSP6	HP:0001763	Pes planus	HP:0040283	ORPHA:478
1848	DUSP6	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
1848	DUSP6	HP:0000508	Ptosis	HP:0040283	ORPHA:478
1848	DUSP6	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
1848	DUSP6	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
1854	DUT	HP:0003764	Nevus	2/4	OMIM:620044
1854	DUT	HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	0/2	OMIM:620044
1854	DUT	HP:0000007	Autosomal recessive inheritance	-	OMIM:620044
1854	DUT	HP:0003593	Infantile onset	2/4	OMIM:620044
1854	DUT	HP:0100651	Type I diabetes mellitus	4/4	OMIM:620044
1854	DUT	HP:0003623	Neonatal onset	2/4	OMIM:620044
1854	DUT	HP:0003621	Juvenile onset	1/4	OMIM:620044
1854	DUT	HP:0005518	Increased mean corpuscular volume	2/4	OMIM:620044
1854	DUT	HP:0034063	Anti-islet antigen-2 antibody positivity	0/2	OMIM:620044
1854	DUT	HP:0006727	T-cell acute lymphoblastic leukemias	1/4	OMIM:620044
1854	DUT	HP:0001876	Pancytopenia	3/4	OMIM:620044
1855	DVL1	HP:0001156	Brachydactyly	13/15	OMIM:616331
1855	DVL1	HP:0001156	Brachydactyly	6/6	OMIM:180700
1855	DVL1	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3107
1855	DVL1	HP:0009944	Partial duplication of thumb phalanx	2/3	OMIM:616331
1855	DVL1	HP:0009883	Duplication of the distal phalanx of hand	-	OMIM:180700
1855	DVL1	HP:0009882	Short distal phalanx of finger	-	OMIM:616331
1855	DVL1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1855	DVL1	HP:0001293	Cranial nerve compression	-	OMIM:131300
1855	DVL1	HP:0001250	Seizure	2/10	OMIM:616331
1855	DVL1	HP:0001252	Hypotonia	2/7	OMIM:615777
1855	DVL1	HP:0001249	Intellectual disability	-	OMIM:180700
1855	DVL1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3107
1855	DVL1	HP:0001249	Intellectual disability	5/7	OMIM:615777
1855	DVL1	HP:0001263	Global developmental delay	-	OMIM:180700
1855	DVL1	HP:0001263	Global developmental delay	1/1	OMIM:616331
1855	DVL1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:3107
1855	DVL1	HP:0001263	Global developmental delay	-	OMIM:615777
1855	DVL1	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:3107
1855	DVL1	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:3107
1855	DVL1	HP:0009999	Partial duplication of the phalanx of hand	4/9	OMIM:616331
1855	DVL1	HP:0002515	Waddling gait	54/102	OMIM:131300
1855	DVL1	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:3107
1855	DVL1	HP:0000060	Clitoral hypoplasia	2/3	OMIM:616331
1855	DVL1	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:3107
1855	DVL1	HP:0000060	Clitoral hypoplasia	-	OMIM:180700
1855	DVL1	HP:0000059	Hypoplastic labia majora	HP:0040282	ORPHA:3107
1855	DVL1	HP:0000059	Hypoplastic labia majora	-	OMIM:180700
1855	DVL1	HP:0000075	Renal duplication	-	OMIM:180700
1855	DVL1	HP:0000036	Abnormal penis morphology	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000039	Epispadias	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000054	Micropenis	6/6	OMIM:616331
1855	DVL1	HP:0000054	Micropenis	-	OMIM:180700
1855	DVL1	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:3107
1855	DVL1	HP:0001382	Joint hypermobility	-	OMIM:615777
1855	DVL1	HP:0000047	Hypospadias	2/5	OMIM:616331
1855	DVL1	HP:0000047	Hypospadias	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000023	Inguinal hernia	0/9	OMIM:616331
1855	DVL1	HP:0000023	Inguinal hernia	-	OMIM:180700
1855	DVL1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:3107
1855	DVL1	HP:0002684	Thickened calvaria	7/9	OMIM:616331
1855	DVL1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1855	DVL1	HP:0000028	Cryptorchidism	5/6	OMIM:616331
1855	DVL1	HP:0000028	Cryptorchidism	-	OMIM:180700
1855	DVL1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3107
1855	DVL1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1855	DVL1	HP:0033725	Thin corpus callosum	1/1	OMIM:616331
1855	DVL1	HP:0001328	Specific learning disability	HP:0040283	ORPHA:3107
1855	DVL1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1855	DVL1	HP:0001324	Muscle weakness	40/96	OMIM:131300
1855	DVL1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1855	DVL1	HP:0002673	Coxa valga	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1855	DVL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180700
1855	DVL1	HP:0000006	Autosomal dominant inheritance	20/20	OMIM:616331
1855	DVL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1855	DVL1	HP:0002650	Scoliosis	4/11	OMIM:616331
1855	DVL1	HP:0002650	Scoliosis	12/14	OMIM:131300
1855	DVL1	HP:0002650	Scoliosis	HP:0040283	ORPHA:3107
1855	DVL1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1855	DVL1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1855	DVL1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1855	DVL1	HP:0000189	Narrow palate	-	OMIM:180700
1855	DVL1	HP:0008905	Rhizomelia	-	OMIM:180700
1855	DVL1	HP:0000185	Cleft soft palate	2/8	OMIM:616331
1855	DVL1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1855	DVL1	HP:0000164	Abnormality of the dentition	-	OMIM:616331
1855	DVL1	HP:0000158	Macroglossia	-	OMIM:180700
1855	DVL1	HP:0000175	Cleft palate	3/6	OMIM:616331
1855	DVL1	HP:0000175	Cleft palate	2/7	OMIM:615777
1855	DVL1	HP:0000168	Abnormality of the gingiva	HP:0040282	ORPHA:3107
1855	DVL1	HP:0000154	Wide mouth	3/3	OMIM:616331
1855	DVL1	HP:0007665	Curly eyelashes	HP:0040282	ORPHA:3107
1855	DVL1	HP:0006335	Persistence of primary teeth	2/6	OMIM:180700
1855	DVL1	HP:0002705	High, narrow palate	HP:0040282	ORPHA:3107
1855	DVL1	HP:0000126	Hydronephrosis	-	OMIM:180700
1855	DVL1	HP:0002751	Kyphoscoliosis	4/9	OMIM:616331
1855	DVL1	HP:0002750	Delayed skeletal maturation	-	OMIM:180700
1855	DVL1	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:3107
1855	DVL1	HP:0002714	Downturned corners of mouth	-	OMIM:180700
1855	DVL1	HP:0002007	Frontal bossing	11/11	OMIM:616331
1855	DVL1	HP:0002007	Frontal bossing	-	OMIM:180700
1855	DVL1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:3107
1855	DVL1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:3107
1855	DVL1	HP:0011800	Midface retrusion	14/14	OMIM:616331
1855	DVL1	HP:0011800	Midface retrusion	-	OMIM:180700
1855	DVL1	HP:0011800	Midface retrusion	HP:0040281	ORPHA:3107
1855	DVL1	HP:0100541	Femoral hernia	HP:0040283	ORPHA:3107
1855	DVL1	HP:0003388	Easy fatigability	36/76	OMIM:131300
1855	DVL1	HP:0009466	Radial deviation of finger	-	OMIM:180700
1855	DVL1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1855	DVL1	HP:0009611	Bifid distal phalanx of the thumb	2/3	OMIM:616331
1855	DVL1	HP:0002164	Nail dysplasia	3/11	OMIM:616331
1855	DVL1	HP:0002164	Nail dysplasia	-	OMIM:180700
1855	DVL1	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:3107
1855	DVL1	HP:0003577	Congenital onset	19/20	OMIM:616331
1855	DVL1	HP:0003577	Congenital onset	6/6	OMIM:180700
1855	DVL1	HP:0002240	Hepatomegaly	0/3	OMIM:616331
1855	DVL1	HP:0008402	Ridged fingernail	HP:0040283	ORPHA:3107
1855	DVL1	HP:0100798	Fingernail dysplasia	HP:0040283	ORPHA:3107
1855	DVL1	HP:0011994	Abnormal atrial septum morphology	1/9	OMIM:616331
1855	DVL1	HP:0003510	Severe short stature	7/7	OMIM:615777
1855	DVL1	HP:0003510	Severe short stature	HP:0040282	ORPHA:3107
1855	DVL1	HP:0001052	Nevus flammeus	-	OMIM:180700
1855	DVL1	HP:0002315	Headache	-	OMIM:131300
1855	DVL1	HP:0004976	Knee dislocation	6/7	OMIM:615777
1855	DVL1	HP:0010807	Open bite	HP:0040282	ORPHA:3107
1855	DVL1	HP:0009803	Short phalanx of finger	-	OMIM:615777
1855	DVL1	HP:0200055	Small hand	-	OMIM:180700
1855	DVL1	HP:0009763	Limb pain	63/92	OMIM:131300
1855	DVL1	HP:0010733	Naevus flammeus of the eyelid	HP:0040283	ORPHA:3107
1855	DVL1	HP:0003621	Juvenile onset	-	OMIM:131300
1855	DVL1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1855	DVL1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:3107
1855	DVL1	HP:0009099	Median cleft palate	HP:0040282	ORPHA:3107
1855	DVL1	HP:0004279	Short palm	HP:0040281	ORPHA:3107
1855	DVL1	HP:0004279	Short palm	-	OMIM:180700
1855	DVL1	HP:0004220	Short middle phalanx of the 5th finger	-	OMIM:180700
1855	DVL1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1855	DVL1	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:3107
1855	DVL1	HP:0000637	Long palpebral fissure	-	OMIM:180700
1855	DVL1	HP:6001056	Out-toeing	-	OMIM:131300
1855	DVL1	HP:0000651	Diplopia	-	OMIM:131300
1855	DVL1	HP:0001956	Truncal obesity	2/7	OMIM:615777
1855	DVL1	HP:0001903	Anemia	HP:0040283	OMIM:131300
1855	DVL1	HP:0010049	Short metacarpal	-	OMIM:615777
1855	DVL1	HP:0010055	Broad hallux	9/11	OMIM:616331
1855	DVL1	HP:0000684	Delayed eruption of teeth	-	OMIM:180700
1855	DVL1	HP:0000678	Dental crowding	-	OMIM:616331
1855	DVL1	HP:0000678	Dental crowding	-	OMIM:615777
1855	DVL1	HP:0000678	Dental crowding	-	OMIM:180700
1855	DVL1	HP:0000674	Anodontia	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000677	Oligodontia	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000677	Oligodontia	3/3	OMIM:616331
1855	DVL1	HP:0000689	Dental malocclusion	-	OMIM:616331
1855	DVL1	HP:0000670	Carious teeth	-	OMIM:131300
1855	DVL1	HP:0011304	Broad thumb	15/21	OMIM:616331
1855	DVL1	HP:0011304	Broad thumb	2/7	OMIM:615777
1855	DVL1	HP:0011304	Broad thumb	-	OMIM:180700
1855	DVL1	HP:0000668	Hypodontia	-	OMIM:615777
1855	DVL1	HP:0000668	Hypodontia	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000664	Synophrys	-	OMIM:615777
1855	DVL1	HP:0004322	Short stature	6/6	OMIM:180700
1855	DVL1	HP:0004322	Short stature	5/20	OMIM:616331
1855	DVL1	HP:0004322	Short stature	HP:0040282	ORPHA:3107
1855	DVL1	HP:0003083	Dislocated radial head	2/6	OMIM:180700
1855	DVL1	HP:0004396	Poor appetite	-	OMIM:131300
1855	DVL1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1855	DVL1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1855	DVL1	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:3107
1855	DVL1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1855	DVL1	HP:0003026	Short long bone	7/7	OMIM:615777
1855	DVL1	HP:0003026	Short long bone	5/6	OMIM:180700
1855	DVL1	HP:0003027	Mesomelia	10/15	OMIM:616331
1855	DVL1	HP:0003027	Mesomelia	-	OMIM:180700
1855	DVL1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1855	DVL1	HP:0000767	Pectus excavatum	-	OMIM:180700
1855	DVL1	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:3107
1855	DVL1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1855	DVL1	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1855	DVL1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1855	DVL1	HP:0000750	Delayed speech and language development	-	OMIM:615777
1855	DVL1	HP:0011461	Fetal onset	1/8	OMIM:616331
1855	DVL1	HP:0011461	Fetal onset	7/7	OMIM:615777
1855	DVL1	HP:0000774	Narrow chest	2/7	OMIM:615777
1855	DVL1	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040283	ORPHA:3107
1855	DVL1	HP:0012905	Euryblepharon	HP:0040282	ORPHA:3107
1855	DVL1	HP:0003196	Short nose	15/15	OMIM:616331
1855	DVL1	HP:0003196	Short nose	6/6	OMIM:180700
1855	DVL1	HP:0003196	Short nose	HP:0040281	ORPHA:3107
1855	DVL1	HP:0000926	Platyspondyly	1/7	OMIM:615777
1855	DVL1	HP:0003180	Flat acetabular roof	-	OMIM:615777
1855	DVL1	HP:0004482	Relative macrocephaly	-	OMIM:615777
1855	DVL1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1855	DVL1	HP:0003093	Limited hip extension	1/1	OMIM:616331
1855	DVL1	HP:0000823	Delayed puberty	-	OMIM:131300
1855	DVL1	HP:0010292	Absent uvula	2/8	OMIM:616331
1855	DVL1	HP:0010297	Bifid tongue	HP:0040282	ORPHA:3107
1855	DVL1	HP:0010297	Bifid tongue	-	OMIM:180700
1855	DVL1	HP:0010297	Bifid tongue	7/11	OMIM:616331
1855	DVL1	HP:0010290	Short hard palate	-	OMIM:180700
1855	DVL1	HP:0040036	Onychogryphosis of fingernail	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000894	Short clavicles	-	OMIM:615777
1855	DVL1	HP:0005852	Limited elbow extension and supination	2/6	OMIM:180700
1855	DVL1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1855	DVL1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1855	DVL1	HP:0000960	Sacral dimple	2/8	OMIM:616331
1855	DVL1	HP:0000960	Sacral dimple	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000960	Sacral dimple	3/6	OMIM:180700
1855	DVL1	HP:0000286	Epicanthus	5/10	OMIM:616331
1855	DVL1	HP:0000286	Epicanthus	3/6	OMIM:180700
1855	DVL1	HP:0000286	Epicanthus	HP:0040282	ORPHA:3107
1855	DVL1	HP:0000286	Epicanthus	1/7	OMIM:615777
1855	DVL1	HP:0000280	Coarse facial features	2/7	OMIM:615777
1855	DVL1	HP:0000278	Retrognathia	HP:0040282	ORPHA:3107
1855	DVL1	HP:0000278	Retrognathia	-	OMIM:180700
1855	DVL1	HP:0001596	Alopecia	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000260	Wide anterior fontanel	3/6	OMIM:180700
1855	DVL1	HP:0000256	Macrocephaly	18/18	OMIM:616331
1855	DVL1	HP:0000256	Macrocephaly	-	OMIM:180700
1855	DVL1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:3107
1855	DVL1	HP:0000272	Malar flattening	2/6	OMIM:180700
1855	DVL1	HP:0002812	Coxa vara	HP:0040283	ORPHA:3107
1855	DVL1	HP:0002827	Hip dislocation	1/1	OMIM:616331
1855	DVL1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:3107
1855	DVL1	HP:0002827	Hip dislocation	3/7	OMIM:615777
1855	DVL1	HP:0030084	Clinodactyly	10/12	OMIM:616331
1855	DVL1	HP:0030084	Clinodactyly	-	OMIM:180700
1855	DVL1	HP:0000252	Microcephaly	-	OMIM:615777
1855	DVL1	HP:0000219	Thin upper lip vermilion	5/11	OMIM:616331
1855	DVL1	HP:0000219	Thin upper lip vermilion	-	OMIM:180700
1855	DVL1	HP:0000218	High palate	1/1	OMIM:616331
1855	DVL1	HP:0000218	High palate	-	OMIM:180700
1855	DVL1	HP:0000212	Gingival overgrowth	13/15	OMIM:616331
1855	DVL1	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:3107
1855	DVL1	HP:0000212	Gingival overgrowth	3/6	OMIM:180700
1855	DVL1	HP:0000215	Thick upper lip vermilion	1/1	OMIM:616331
1855	DVL1	HP:0000200	Short lingual frenulum	3/6	OMIM:180700
1855	DVL1	HP:0002857	Genu valgum	-	OMIM:131300
1855	DVL1	HP:0002870	Obstructive sleep apnea	3/8	OMIM:616331
1855	DVL1	HP:0001537	Umbilical hernia	4/10	OMIM:616331
1855	DVL1	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:3107
1855	DVL1	HP:0001537	Umbilical hernia	-	OMIM:180700
1855	DVL1	HP:0001539	Omphalocele	1/10	OMIM:616331
1855	DVL1	HP:0000207	Triangular mouth	10/10	OMIM:616331
1855	DVL1	HP:0000207	Triangular mouth	-	OMIM:180700
1855	DVL1	HP:0000202	Orofacial cleft	-	OMIM:180700
1855	DVL1	HP:0001533	Slender build	-	OMIM:131300
1855	DVL1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1855	DVL1	HP:0007807	Optic nerve compression	-	OMIM:131300
1855	DVL1	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:3107
1855	DVL1	HP:0012385	Camptodactyly	4/12	OMIM:616331
1855	DVL1	HP:0012368	Flat face	7/7	OMIM:615777
1855	DVL1	HP:0012368	Flat face	3/6	OMIM:180700
1855	DVL1	HP:0002937	Hemivertebrae	HP:0040282	ORPHA:3107
1855	DVL1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1855	DVL1	HP:0000365	Hearing impairment	6/12	OMIM:616331
1855	DVL1	HP:0000365	Hearing impairment	10/67	OMIM:131300
1855	DVL1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000358	Posteriorly rotated ears	3/6	OMIM:180700
1855	DVL1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000369	Low-set ears	1/1	OMIM:616331
1855	DVL1	HP:0000369	Low-set ears	2/6	OMIM:180700
1855	DVL1	HP:0000369	Low-set ears	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000343	Long philtrum	17/21	OMIM:616331
1855	DVL1	HP:0000343	Long philtrum	3/6	OMIM:180700
1855	DVL1	HP:0000343	Long philtrum	HP:0040282	ORPHA:3107
1855	DVL1	HP:0000343	Long philtrum	1/7	OMIM:615777
1855	DVL1	HP:0011001	Increased bone mineral density	-	OMIM:131300
1855	DVL1	HP:0000348	High forehead	23/23	OMIM:616331
1855	DVL1	HP:0000347	Micrognathia	5/12	OMIM:616331
1855	DVL1	HP:0000347	Micrognathia	3/6	OMIM:180700
1855	DVL1	HP:0000347	Micrognathia	HP:0040282	ORPHA:3107
1855	DVL1	HP:0002983	Micromelia	HP:0040281	ORPHA:3107
1855	DVL1	HP:0000316	Hypertelorism	15/16	OMIM:616331
1855	DVL1	HP:0000316	Hypertelorism	2/6	OMIM:180700
1855	DVL1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:3107
1855	DVL1	HP:0000311	Round face	2/7	OMIM:615777
1855	DVL1	HP:0000322	Short philtrum	HP:0040283	ORPHA:3107
1855	DVL1	HP:0002984	Hypoplasia of the radius	1/1	OMIM:616331
1855	DVL1	HP:0001629	Ventricular septal defect	1/9	OMIM:616331
1855	DVL1	HP:0002970	Genu varum	-	OMIM:615777
1855	DVL1	HP:0000303	Mandibular prognathia	-	OMIM:131300
1855	DVL1	HP:0005306	Capillary hemangioma	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000407	Sensorineural hearing impairment	3/12	OMIM:616331
1855	DVL1	HP:0000405	Conductive hearing impairment	4/12	OMIM:616331
1855	DVL1	HP:0001705	Right ventricular outlet tract obstruction	-	OMIM:180700
1855	DVL1	HP:0005280	Depressed nasal bridge	9/9	OMIM:616331
1855	DVL1	HP:0005280	Depressed nasal bridge	3/6	OMIM:180700
1855	DVL1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:3107
1855	DVL1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1855	DVL1	HP:0000486	Strabismus	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000494	Downslanted palpebral fissures	3/6	OMIM:180700
1855	DVL1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000463	Anteverted nares	10/11	OMIM:616331
1855	DVL1	HP:0000463	Anteverted nares	3/6	OMIM:180700
1855	DVL1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:3107
1855	DVL1	HP:0000470	Short neck	3/11	OMIM:616331
1855	DVL1	HP:0000470	Short neck	-	OMIM:180700
1855	DVL1	HP:0000470	Short neck	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000470	Short neck	1/7	OMIM:615777
1855	DVL1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1855	DVL1	HP:0001763	Pes planus	1/7	OMIM:615777
1855	DVL1	HP:0000445	Wide nose	HP:0040281	ORPHA:3107
1855	DVL1	HP:0000410	Mixed hearing impairment	3/3	OMIM:616331
1855	DVL1	HP:0000431	Wide nasal bridge	10/10	OMIM:616331
1855	DVL1	HP:0000431	Wide nasal bridge	-	OMIM:180700
1855	DVL1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:3107
1855	DVL1	HP:0005450	Calvarial osteosclerosis	4/4	OMIM:616331
1855	DVL1	HP:0001840	Metatarsus adductus	-	OMIM:615777
1855	DVL1	HP:0000527	Long eyelashes	5/10	OMIM:616331
1855	DVL1	HP:0000527	Long eyelashes	HP:0040282	ORPHA:3107
1855	DVL1	HP:0000527	Long eyelashes	-	OMIM:180700
1855	DVL1	HP:0000520	Proptosis	7/11	OMIM:616331
1855	DVL1	HP:0000520	Proptosis	2/4	OMIM:131300
1855	DVL1	HP:0000520	Proptosis	HP:0040282	ORPHA:3107
1855	DVL1	HP:0000520	Proptosis	7/7	OMIM:615777
1855	DVL1	HP:0000520	Proptosis	3/6	OMIM:180700
1855	DVL1	HP:0001853	Bifid distal phalanx of toe	-	OMIM:180700
1855	DVL1	HP:0001837	Broad toe	-	OMIM:180700
1855	DVL1	HP:0000508	Ptosis	HP:0040283	ORPHA:3107
1855	DVL1	HP:0000582	Upslanted palpebral fissure	3/11	OMIM:616331
1855	DVL1	HP:0000582	Upslanted palpebral fissure	-	OMIM:180700
1855	DVL1	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:3107
1855	DVL1	HP:0000592	Blue sclerae	5/11	OMIM:616331
1855	DVL1	HP:0000592	Blue sclerae	2/7	OMIM:615777
1855	DVL1	HP:0000592	Blue sclerae	HP:0040283	ORPHA:3107
1855	DVL1	HP:0011220	Prominent forehead	HP:0040282	ORPHA:3107
1855	DVL1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1855	DVL1	HP:0012514	Lower limb pain	4/4	OMIM:131300
1857	DVL3	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3107
1857	DVL3	HP:0001156	Brachydactyly	4/4	OMIM:616894
1857	DVL3	HP:0001159	Syndactyly	1/4	OMIM:616894
1857	DVL3	HP:0010954	Hypoplastic right heart	1/4	OMIM:616894
1857	DVL3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1857	DVL3	HP:0001293	Cranial nerve compression	-	OMIM:131300
1857	DVL3	HP:0001252	Hypotonia	2/7	OMIM:615777
1857	DVL3	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3107
1857	DVL3	HP:0001249	Intellectual disability	5/7	OMIM:615777
1857	DVL3	HP:0001263	Global developmental delay	HP:0040283	ORPHA:3107
1857	DVL3	HP:0001263	Global developmental delay	-	OMIM:615777
1857	DVL3	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:3107
1857	DVL3	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:3107
1857	DVL3	HP:0002515	Waddling gait	54/102	OMIM:131300
1857	DVL3	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:3107
1857	DVL3	HP:0000060	Clitoral hypoplasia	1/3	OMIM:616894
1857	DVL3	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:3107
1857	DVL3	HP:0000059	Hypoplastic labia majora	HP:0040282	ORPHA:3107
1857	DVL3	HP:0000076	Vesicoureteral reflux	1/4	OMIM:616894
1857	DVL3	HP:0000036	Abnormal penis morphology	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000039	Epispadias	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000054	Micropenis	1/1	OMIM:616894
1857	DVL3	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:3107
1857	DVL3	HP:0001382	Joint hypermobility	-	OMIM:615777
1857	DVL3	HP:0000047	Hypospadias	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:3107
1857	DVL3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1857	DVL3	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3107
1857	DVL3	HP:0000028	Cryptorchidism	1/1	OMIM:616894
1857	DVL3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1857	DVL3	HP:0001328	Specific learning disability	HP:0040283	ORPHA:3107
1857	DVL3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1857	DVL3	HP:0001324	Muscle weakness	40/96	OMIM:131300
1857	DVL3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1857	DVL3	HP:0002673	Coxa valga	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1857	DVL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1857	DVL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:616894
1857	DVL3	HP:0002650	Scoliosis	12/14	OMIM:131300
1857	DVL3	HP:0002650	Scoliosis	HP:0040283	ORPHA:3107
1857	DVL3	HP:0002650	Scoliosis	2/4	OMIM:616894
1857	DVL3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1857	DVL3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1857	DVL3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1857	DVL3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1857	DVL3	HP:0000175	Cleft palate	2/7	OMIM:615777
1857	DVL3	HP:0000175	Cleft palate	3/4	OMIM:616894
1857	DVL3	HP:0000168	Abnormality of the gingiva	HP:0040282	ORPHA:3107
1857	DVL3	HP:0006349	Agenesis of permanent teeth	2/4	OMIM:616894
1857	DVL3	HP:0007665	Curly eyelashes	HP:0040282	ORPHA:3107
1857	DVL3	HP:0410030	Cleft lip	1/4	OMIM:616894
1857	DVL3	HP:0002705	High, narrow palate	HP:0040282	ORPHA:3107
1857	DVL3	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:3107
1857	DVL3	HP:0002714	Downturned corners of mouth	2/4	OMIM:616894
1857	DVL3	HP:0002007	Frontal bossing	HP:0040282	ORPHA:3107
1857	DVL3	HP:0002007	Frontal bossing	2/4	OMIM:616894
1857	DVL3	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:3107
1857	DVL3	HP:0011800	Midface retrusion	HP:0040281	ORPHA:3107
1857	DVL3	HP:0011800	Midface retrusion	4/4	OMIM:616894
1857	DVL3	HP:0100541	Femoral hernia	HP:0040283	ORPHA:3107
1857	DVL3	HP:0003388	Easy fatigability	36/76	OMIM:131300
1857	DVL3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1857	DVL3	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:3107
1857	DVL3	HP:0008402	Ridged fingernail	HP:0040283	ORPHA:3107
1857	DVL3	HP:0100798	Fingernail dysplasia	HP:0040283	ORPHA:3107
1857	DVL3	HP:0003510	Severe short stature	7/7	OMIM:615777
1857	DVL3	HP:0003510	Severe short stature	HP:0040282	ORPHA:3107
1857	DVL3	HP:0002315	Headache	-	OMIM:131300
1857	DVL3	HP:0004976	Knee dislocation	6/7	OMIM:615777
1857	DVL3	HP:0010807	Open bite	HP:0040282	ORPHA:3107
1857	DVL3	HP:0009803	Short phalanx of finger	2/4	OMIM:616894
1857	DVL3	HP:0009803	Short phalanx of finger	-	OMIM:615777
1857	DVL3	HP:0009763	Limb pain	63/92	OMIM:131300
1857	DVL3	HP:0010733	Naevus flammeus of the eyelid	HP:0040283	ORPHA:3107
1857	DVL3	HP:0004935	Pulmonary artery atresia	1/4	OMIM:616894
1857	DVL3	HP:0003621	Juvenile onset	-	OMIM:131300
1857	DVL3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1857	DVL3	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:3107
1857	DVL3	HP:0009099	Median cleft palate	HP:0040282	ORPHA:3107
1857	DVL3	HP:0004279	Short palm	HP:0040281	ORPHA:3107
1857	DVL3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1857	DVL3	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:3107
1857	DVL3	HP:6001056	Out-toeing	-	OMIM:131300
1857	DVL3	HP:0000651	Diplopia	-	OMIM:131300
1857	DVL3	HP:0001956	Truncal obesity	2/7	OMIM:615777
1857	DVL3	HP:0001903	Anemia	HP:0040283	OMIM:131300
1857	DVL3	HP:0010049	Short metacarpal	-	OMIM:615777
1857	DVL3	HP:0000678	Dental crowding	-	OMIM:615777
1857	DVL3	HP:0000674	Anodontia	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000677	Oligodontia	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000689	Dental malocclusion	1/4	OMIM:616894
1857	DVL3	HP:0000670	Carious teeth	-	OMIM:131300
1857	DVL3	HP:0011304	Broad thumb	2/7	OMIM:615777
1857	DVL3	HP:0011304	Broad thumb	1/4	OMIM:616894
1857	DVL3	HP:0000668	Hypodontia	-	OMIM:615777
1857	DVL3	HP:0000668	Hypodontia	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000664	Synophrys	-	OMIM:615777
1857	DVL3	HP:0004322	Short stature	4/4	OMIM:616894
1857	DVL3	HP:0004322	Short stature	HP:0040282	ORPHA:3107
1857	DVL3	HP:0004396	Poor appetite	-	OMIM:131300
1857	DVL3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1857	DVL3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1857	DVL3	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:3107
1857	DVL3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1857	DVL3	HP:0003026	Short long bone	7/7	OMIM:615777
1857	DVL3	HP:0003027	Mesomelia	4/4	OMIM:616894
1857	DVL3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1857	DVL3	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:3107
1857	DVL3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1857	DVL3	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1857	DVL3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1857	DVL3	HP:0000750	Delayed speech and language development	-	OMIM:615777
1857	DVL3	HP:0011461	Fetal onset	7/7	OMIM:615777
1857	DVL3	HP:0000774	Narrow chest	2/7	OMIM:615777
1857	DVL3	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040283	ORPHA:3107
1857	DVL3	HP:0012905	Euryblepharon	HP:0040282	ORPHA:3107
1857	DVL3	HP:0003196	Short nose	HP:0040281	ORPHA:3107
1857	DVL3	HP:0003196	Short nose	4/4	OMIM:616894
1857	DVL3	HP:0000926	Platyspondyly	1/7	OMIM:615777
1857	DVL3	HP:0003180	Flat acetabular roof	-	OMIM:615777
1857	DVL3	HP:0004482	Relative macrocephaly	-	OMIM:615777
1857	DVL3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1857	DVL3	HP:0000823	Delayed puberty	-	OMIM:131300
1857	DVL3	HP:0010297	Bifid tongue	HP:0040282	ORPHA:3107
1857	DVL3	HP:0010297	Bifid tongue	3/3	OMIM:616894
1857	DVL3	HP:0040036	Onychogryphosis of fingernail	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000894	Short clavicles	-	OMIM:615777
1857	DVL3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1857	DVL3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1857	DVL3	HP:0000960	Sacral dimple	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000960	Sacral dimple	1/4	OMIM:616894
1857	DVL3	HP:0000286	Epicanthus	HP:0040282	ORPHA:3107
1857	DVL3	HP:0000286	Epicanthus	1/7	OMIM:615777
1857	DVL3	HP:0000286	Epicanthus	1/3	OMIM:616894
1857	DVL3	HP:0000280	Coarse facial features	2/7	OMIM:615777
1857	DVL3	HP:0000278	Retrognathia	HP:0040282	ORPHA:3107
1857	DVL3	HP:0001596	Alopecia	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000256	Macrocephaly	HP:0040282	ORPHA:3107
1857	DVL3	HP:0000256	Macrocephaly	2/4	OMIM:616894
1857	DVL3	HP:0002812	Coxa vara	HP:0040283	ORPHA:3107
1857	DVL3	HP:0002827	Hip dislocation	HP:0040283	ORPHA:3107
1857	DVL3	HP:0002827	Hip dislocation	3/7	OMIM:615777
1857	DVL3	HP:0030084	Clinodactyly	4/4	OMIM:616894
1857	DVL3	HP:0002808	Kyphosis	2/4	OMIM:616894
1857	DVL3	HP:0000252	Microcephaly	-	OMIM:615777
1857	DVL3	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:3107
1857	DVL3	HP:0000212	Gingival overgrowth	3/3	OMIM:616894
1857	DVL3	HP:0001545	Anteriorly placed anus	1/4	OMIM:616894
1857	DVL3	HP:0002857	Genu valgum	-	OMIM:131300
1857	DVL3	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:3107
1857	DVL3	HP:0001539	Omphalocele	1/4	OMIM:616894
1857	DVL3	HP:0000207	Triangular mouth	1/4	OMIM:616894
1857	DVL3	HP:0001533	Slender build	-	OMIM:131300
1857	DVL3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1857	DVL3	HP:0007807	Optic nerve compression	-	OMIM:131300
1857	DVL3	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:3107
1857	DVL3	HP:0012385	Camptodactyly	1/4	OMIM:616894
1857	DVL3	HP:0012368	Flat face	7/7	OMIM:615777
1857	DVL3	HP:0002937	Hemivertebrae	HP:0040282	ORPHA:3107
1857	DVL3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1857	DVL3	HP:0005180	Tricuspid regurgitation	1/4	OMIM:616894
1857	DVL3	HP:0000365	Hearing impairment	10/67	OMIM:131300
1857	DVL3	HP:0000365	Hearing impairment	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000365	Hearing impairment	1/4	OMIM:616894
1857	DVL3	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000369	Low-set ears	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000369	Low-set ears	1/4	OMIM:616894
1857	DVL3	HP:0000343	Long philtrum	HP:0040282	ORPHA:3107
1857	DVL3	HP:0000343	Long philtrum	1/7	OMIM:615777
1857	DVL3	HP:0000343	Long philtrum	3/4	OMIM:616894
1857	DVL3	HP:0011001	Increased bone mineral density	-	OMIM:131300
1857	DVL3	HP:0000348	High forehead	1/4	OMIM:616894
1857	DVL3	HP:0000347	Micrognathia	HP:0040282	ORPHA:3107
1857	DVL3	HP:0000347	Micrognathia	3/4	OMIM:616894
1857	DVL3	HP:0002983	Micromelia	HP:0040281	ORPHA:3107
1857	DVL3	HP:0000316	Hypertelorism	HP:0040281	ORPHA:3107
1857	DVL3	HP:0000316	Hypertelorism	2/4	OMIM:616894
1857	DVL3	HP:0001643	Patent ductus arteriosus	1/4	OMIM:616894
1857	DVL3	HP:0000311	Round face	2/7	OMIM:615777
1857	DVL3	HP:0000322	Short philtrum	HP:0040283	ORPHA:3107
1857	DVL3	HP:0001655	Patent foramen ovale	1/4	OMIM:616894
1857	DVL3	HP:0001629	Ventricular septal defect	2/4	OMIM:616894
1857	DVL3	HP:0002970	Genu varum	-	OMIM:615777
1857	DVL3	HP:0000303	Mandibular prognathia	-	OMIM:131300
1857	DVL3	HP:0005306	Capillary hemangioma	HP:0040283	ORPHA:3107
1857	DVL3	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:3107
1857	DVL3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1857	DVL3	HP:0005280	Depressed nasal bridge	3/4	OMIM:616894
1857	DVL3	HP:0000486	Strabismus	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000463	Anteverted nares	HP:0040281	ORPHA:3107
1857	DVL3	HP:0000463	Anteverted nares	4/4	OMIM:616894
1857	DVL3	HP:0000470	Short neck	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000470	Short neck	1/7	OMIM:615777
1857	DVL3	HP:0000470	Short neck	1/4	OMIM:616894
1857	DVL3	HP:0000465	Webbed neck	1/4	OMIM:616894
1857	DVL3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1857	DVL3	HP:0001763	Pes planus	1/7	OMIM:615777
1857	DVL3	HP:0000445	Wide nose	HP:0040281	ORPHA:3107
1857	DVL3	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:3107
1857	DVL3	HP:0000431	Wide nasal bridge	4/4	OMIM:616894
1857	DVL3	HP:0001840	Metatarsus adductus	-	OMIM:615777
1857	DVL3	HP:0000527	Long eyelashes	HP:0040282	ORPHA:3107
1857	DVL3	HP:0000527	Long eyelashes	2/4	OMIM:616894
1857	DVL3	HP:0000520	Proptosis	2/4	OMIM:131300
1857	DVL3	HP:0000520	Proptosis	HP:0040282	ORPHA:3107
1857	DVL3	HP:0000520	Proptosis	7/7	OMIM:615777
1857	DVL3	HP:0000520	Proptosis	3/4	OMIM:616894
1857	DVL3	HP:0000506	Telecanthus	2/4	OMIM:616894
1857	DVL3	HP:0000508	Ptosis	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:3107
1857	DVL3	HP:0000582	Upslanted palpebral fissure	3/4	OMIM:616894
1857	DVL3	HP:0000592	Blue sclerae	2/7	OMIM:615777
1857	DVL3	HP:0000592	Blue sclerae	HP:0040283	ORPHA:3107
1857	DVL3	HP:0000592	Blue sclerae	2/3	OMIM:616894
1857	DVL3	HP:0011220	Prominent forehead	HP:0040282	ORPHA:3107
1857	DVL3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1857	DVL3	HP:0012514	Lower limb pain	4/4	OMIM:131300
1859	DYRK1A	HP:0001182	Tapered finger	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0001182	Tapered finger	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0001182	Tapered finger	1/2	OMIM:614104
1859	DYRK1A	HP:0002465	Poor speech	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0010946	Dilatation of the renal pelvis	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0025163	Abnormal optic chiasm morphology	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0010864	Intellectual disability, severe	1/1	OMIM:614104
1859	DYRK1A	HP:0001290	Generalized hypotonia	1/1	OMIM:614104
1859	DYRK1A	HP:0001276	Hypertonia	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0001270	Motor delay	HP:0040282	ORPHA:464311
1859	DYRK1A	HP:0001288	Gait disturbance	HP:0040282	ORPHA:464311
1859	DYRK1A	HP:0001288	Gait disturbance	HP:0040281	ORPHA:268261
1859	DYRK1A	HP:0001288	Gait disturbance	4/8	OMIM:614104
1859	DYRK1A	HP:0001256	Intellectual disability, mild	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0001250	Seizure	HP:0040282	ORPHA:464311
1859	DYRK1A	HP:0001250	Seizure	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0001250	Seizure	14/16	OMIM:614104
1859	DYRK1A	HP:0001251	Ataxia	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0001251	Ataxia	4/8	OMIM:614104
1859	DYRK1A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:464311
1859	DYRK1A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:268261
1859	DYRK1A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:464311
1859	DYRK1A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:268261
1859	DYRK1A	HP:0001263	Global developmental delay	1/1	OMIM:614104
1859	DYRK1A	HP:0410263	Brain imaging abnormality	HP:0040281	ORPHA:268261
1859	DYRK1A	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:464311
1859	DYRK1A	HP:0002509	Limb hypertonia	1/1	OMIM:614104
1859	DYRK1A	HP:0000041	Chordee	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000054	Micropenis	HP:0040284	ORPHA:464311
1859	DYRK1A	HP:0000054	Micropenis	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0000047	Hypospadias	HP:0040284	ORPHA:464311
1859	DYRK1A	HP:0000047	Hypospadias	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000049	Shawl scrotum	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:464311
1859	DYRK1A	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0008872	Feeding difficulties in infancy	13/14	OMIM:614104
1859	DYRK1A	HP:0033725	Thin corpus callosum	1/2	OMIM:614104
1859	DYRK1A	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0001344	Absent speech	HP:0040282	ORPHA:464311
1859	DYRK1A	HP:0001344	Absent speech	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
1859	DYRK1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:614104
1859	DYRK1A	HP:0002650	Scoliosis	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0002650	Scoliosis	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000185	Cleft soft palate	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0012171	Stereotypical hand wringing	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0012171	Stereotypical hand wringing	3/5	OMIM:614104
1859	DYRK1A	HP:0000179	Thick lower lip vermilion	3/6	OMIM:614104
1859	DYRK1A	HP:0000122	Unilateral renal agenesis	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000122	Unilateral renal agenesis	HP:0040284	ORPHA:464311
1859	DYRK1A	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0000125	Pelvic kidney	HP:0040284	ORPHA:464311
1859	DYRK1A	HP:0000126	Hydronephrosis	HP:0040284	ORPHA:464311
1859	DYRK1A	HP:0000126	Hydronephrosis	1/1	OMIM:614104
1859	DYRK1A	HP:0000107	Renal cyst	HP:0040284	ORPHA:464311
1859	DYRK1A	HP:0002719	Recurrent infections	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0002719	Recurrent infections	4/9	OMIM:614104
1859	DYRK1A	HP:0002714	Downturned corners of mouth	1/1	OMIM:614104
1859	DYRK1A	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0002019	Constipation	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0002033	Poor suck	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0002015	Dysphagia	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0002013	Vomiting	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0003319	Abnormality of the cervical spine	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:614104
1859	DYRK1A	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0010442	Polydactyly	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0011757	Posterior pituitary hypoplasia	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0011757	Posterior pituitary hypoplasia	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:464311
1859	DYRK1A	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0002120	Cerebral cortical atrophy	3/6	OMIM:614104
1859	DYRK1A	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:464311
1859	DYRK1A	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0002119	Ventriculomegaly	1/2	OMIM:614104
1859	DYRK1A	HP:0002136	Broad-based gait	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0003429	CNS hypomyelination	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0011917	Short 5th toe	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0002171	Gliosis	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0011822	Broad chin	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0003593	Infantile onset	2/7	OMIM:614104
1859	DYRK1A	HP:0002269	Abnormality of neuronal migration	HP:0040284	ORPHA:464311
1859	DYRK1A	HP:0003577	Congenital onset	5/7	OMIM:614104
1859	DYRK1A	HP:0100703	Tongue thrusting	1/2	OMIM:614104
1859	DYRK1A	HP:0002247	Duodenal atresia	HP:0040284	ORPHA:464311
1859	DYRK1A	HP:0003561	Birth length less than 3rd percentile	5/5	OMIM:614104
1859	DYRK1A	HP:0003561	Birth length less than 3rd percentile	HP:0040282	ORPHA:464311
1859	DYRK1A	HP:0100783	Breast aplasia	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0002280	Enlarged cisterna magna	1/2	OMIM:614104
1859	DYRK1A	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:464311
1859	DYRK1A	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:268261
1859	DYRK1A	HP:0011968	Feeding difficulties	1/1	OMIM:614104
1859	DYRK1A	HP:0002365	Hypoplasia of the brainstem	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/2	OMIM:614104
1859	DYRK1A	HP:0010819	Atonic seizure	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0002311	Incoordination	6/9	OMIM:614104
1859	DYRK1A	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
1859	DYRK1A	HP:0000646	Amblyopia	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0000648	Optic atrophy	1/1	OMIM:614104
1859	DYRK1A	HP:0000612	Iris coloboma	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0000601	Hypotelorism	3/6	OMIM:614104
1859	DYRK1A	HP:0011344	Severe global developmental delay	8/8	OMIM:614104
1859	DYRK1A	HP:0000687	Widely spaced teeth	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0000687	Widely spaced teeth	1/2	OMIM:614104
1859	DYRK1A	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:464311
1859	DYRK1A	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:268261
1859	DYRK1A	HP:0004322	Short stature	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0004322	Short stature	4/6	OMIM:614104
1859	DYRK1A	HP:0000752	Hyperactivity	2/3	OMIM:614104
1859	DYRK1A	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000767	Pectus excavatum	2/4	OMIM:614104
1859	DYRK1A	HP:0000739	Anxiety	HP:0040282	ORPHA:464311
1859	DYRK1A	HP:0000739	Anxiety	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:464311
1859	DYRK1A	HP:0000733	Motor stereotypy	8/10	OMIM:614104
1859	DYRK1A	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:464311
1859	DYRK1A	HP:0000750	Delayed speech and language development	17/17	OMIM:614104
1859	DYRK1A	HP:0000748	Inappropriate laughter	1/6	OMIM:614104
1859	DYRK1A	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000717	Autism	4/10	OMIM:614104
1859	DYRK1A	HP:0000729	Autistic behavior	HP:0040282	ORPHA:464311
1859	DYRK1A	HP:0000729	Autistic behavior	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000708	Atypical behavior	HP:0040281	ORPHA:464311
1859	DYRK1A	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0012785	Flexion contracture of finger	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0011451	Primary microcephaly	1/2	OMIM:614104
1859	DYRK1A	HP:0009121	Abnormal axial skeleton morphology	HP:0040282	ORPHA:464311
1859	DYRK1A	HP:0005768	2-4 toe cutaneous syndactyly	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0003196	Short nose	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0004467	Preauricular pit	-	OMIM:187500
1859	DYRK1A	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0040082	Happy demeanor	1/6	OMIM:614104
1859	DYRK1A	HP:0010314	Premature thelarche	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0000960	Sacral dimple	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0000960	Sacral dimple	1/1	OMIM:614104
1859	DYRK1A	HP:0040188	Osteochondrosis	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0000278	Retrognathia	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000276	Long face	1/2	OMIM:614104
1859	DYRK1A	HP:0000269	Prominent occiput	1/2	OMIM:614104
1859	DYRK1A	HP:0006466	Ankle flexion contracture	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0002808	Kyphosis	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0002808	Kyphosis	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000252	Microcephaly	HP:0040281	ORPHA:464311
1859	DYRK1A	HP:0000252	Microcephaly	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0000252	Microcephaly	17/17	OMIM:614104
1859	DYRK1A	HP:0000219	Thin upper lip vermilion	10/10	OMIM:614104
1859	DYRK1A	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0001562	Oligohydramnios	HP:0040284	ORPHA:464311
1859	DYRK1A	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:464311
1859	DYRK1A	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0001531	Failure to thrive in infancy	-	OMIM:614104
1859	DYRK1A	HP:0001508	Failure to thrive	HP:0040282	ORPHA:464311
1859	DYRK1A	HP:0001518	Small for gestational age	HP:0040282	ORPHA:464311
1859	DYRK1A	HP:0001518	Small for gestational age	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0001518	Small for gestational age	5/6	OMIM:614104
1859	DYRK1A	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:464311
1859	DYRK1A	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0001511	Intrauterine growth retardation	2/2	OMIM:614104
1859	DYRK1A	HP:0011069	Supernumerary tooth	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0000391	Thickened helices	1/1	OMIM:614104
1859	DYRK1A	HP:0000365	Hearing impairment	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0000369	Low-set ears	2/2	OMIM:614104
1859	DYRK1A	HP:0000341	Narrow forehead	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0000341	Narrow forehead	12/12	OMIM:614104
1859	DYRK1A	HP:0000337	Broad forehead	-	OMIM:187500
1859	DYRK1A	HP:0000347	Micrognathia	10/11	OMIM:614104
1859	DYRK1A	HP:0001650	Aortic valve stenosis	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0001650	Aortic valve stenosis	HP:0040284	ORPHA:464311
1859	DYRK1A	HP:0000319	Smooth philtrum	6/12	OMIM:614104
1859	DYRK1A	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:464311
1859	DYRK1A	HP:0001643	Patent ductus arteriosus	1/1	OMIM:614104
1859	DYRK1A	HP:0001659	Aortic regurgitation	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0001659	Aortic regurgitation	HP:0040284	ORPHA:464311
1859	DYRK1A	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:464311
1859	DYRK1A	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0001627	Abnormal heart morphology	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0001641	Abnormal pulmonary valve morphology	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
1859	DYRK1A	HP:0007957	Corneal opacity	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0011171	Simple febrile seizure	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0011147	Typical absence seizure	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000403	Recurrent otitis media	1/1	OMIM:614104
1859	DYRK1A	HP:0000400	Macrotia	11/16	OMIM:614104
1859	DYRK1A	HP:0000483	Astigmatism	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0000483	Astigmatism	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0000486	Strabismus	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0000486	Strabismus	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:614104
1859	DYRK1A	HP:0000490	Deeply set eye	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0000490	Deeply set eye	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000490	Deeply set eye	14/18	OMIM:614104
1859	DYRK1A	HP:0000455	Broad nasal tip	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0001773	Short foot	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0001780	Abnormal toe morphology	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0000414	Bulbous nose	2/3	OMIM:614104
1859	DYRK1A	HP:0000411	Protruding ear	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0000411	Protruding ear	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0000430	Underdeveloped nasal alae	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:268261
1859	DYRK1A	HP:0000426	Prominent nasal bridge	1/2	OMIM:614104
1859	DYRK1A	HP:0005484	Secondary microcephaly	1/2	OMIM:614104
1859	DYRK1A	HP:0000518	Cataract	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000520	Proptosis	-	OMIM:187500
1859	DYRK1A	HP:0001822	Hallux valgus	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0001822	Hallux valgus	-	OMIM:614104
1859	DYRK1A	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:464311
1859	DYRK1A	HP:0001831	Short toe	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000577	Exotropia	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0000565	Esotropia	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000541	Retinal detachment	HP:0040284	ORPHA:268261
1859	DYRK1A	HP:0000541	Retinal detachment	HP:0040284	ORPHA:464311
1859	DYRK1A	HP:0000540	Hypermetropia	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0000540	Hypermetropia	HP:0040283	ORPHA:268261
1859	DYRK1A	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0000545	Myopia	HP:0040283	ORPHA:464311
1859	DYRK1A	HP:0000545	Myopia	HP:0040283	ORPHA:268261
1861	TOR1A	HP:0001188	Hand clenching	4/4	OMIM:618947
1861	TOR1A	HP:0001181	Adducted thumb	1/1	OMIM:618947
1861	TOR1A	HP:0007325	Generalized dystonia	1/1	OMIM:128100
1861	TOR1A	HP:0010864	Intellectual disability, severe	3/4	OMIM:618947
1861	TOR1A	HP:0025269	Panic attack	HP:0040282	ORPHA:36899
1861	TOR1A	HP:0001290	Generalized hypotonia	-	OMIM:128100
1861	TOR1A	HP:0001290	Generalized hypotonia	1/1	OMIM:618947
1861	TOR1A	HP:0001276	Hypertonia	HP:0040281	ORPHA:256
1861	TOR1A	HP:0001276	Hypertonia	1/1	OMIM:128100
1861	TOR1A	HP:0001276	Hypertonia	5/5	OMIM:618947
1861	TOR1A	HP:0001272	Cerebellar atrophy	1/1	OMIM:128100
1861	TOR1A	HP:0001270	Motor delay	1/1	OMIM:128100
1861	TOR1A	HP:0001288	Gait disturbance	HP:0040281	ORPHA:256
1861	TOR1A	HP:0001252	Hypotonia	-	OMIM:128100
1861	TOR1A	HP:0001260	Dysarthria	1/1	OMIM:128100
1861	TOR1A	HP:0001263	Global developmental delay	1/1	OMIM:618947
1861	TOR1A	HP:0002540	Inability to walk	1/1	OMIM:128100
1861	TOR1A	HP:0002533	Abnormal posturing	-	OMIM:128100
1861	TOR1A	HP:0003829	Typified by incomplete penetrance	-	OMIM:128100
1861	TOR1A	HP:0012075	Personality disorder	HP:0040282	ORPHA:36899
1861	TOR1A	HP:0012048	Oromandibular dystonia	1/1	OMIM:128100
1861	TOR1A	HP:0001371	Flexion contracture	2/2	OMIM:618947
1861	TOR1A	HP:0000023	Inguinal hernia	1/1	OMIM:618947
1861	TOR1A	HP:0001347	Hyperreflexia	1/1	OMIM:128100
1861	TOR1A	HP:0001332	Dystonia	HP:0040281	ORPHA:36899
1861	TOR1A	HP:0001332	Dystonia	1/1	OMIM:618947
1861	TOR1A	HP:0001344	Absent speech	3/4	OMIM:618947
1861	TOR1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:618947
1861	TOR1A	HP:0001337	Tremor	1/1	OMIM:128100
1861	TOR1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:128100
1861	TOR1A	HP:0001336	Myoclonus	HP:0040281	ORPHA:36899
1861	TOR1A	HP:0001304	Torsion dystonia	-	OMIM:128100
1861	TOR1A	HP:0002650	Scoliosis	1/1	OMIM:618947
1861	TOR1A	HP:0002650	Scoliosis	-	OMIM:128100
1861	TOR1A	HP:0002643	Neonatal respiratory distress	1/1	OMIM:618947
1861	TOR1A	HP:0002751	Kyphoscoliosis	2/5	OMIM:618947
1861	TOR1A	HP:0002015	Dysphagia	1/1	OMIM:128100
1861	TOR1A	HP:0003307	Hyperlordosis	-	OMIM:128100
1861	TOR1A	HP:0002091	Restrictive ventilatory defect	1/1	OMIM:618947
1861	TOR1A	HP:0003487	Babinski sign	1/1	OMIM:128100
1861	TOR1A	HP:0003438	Absent Achilles reflex	1/1	OMIM:128100
1861	TOR1A	HP:0010531	Spinal myoclonus	HP:0040281	ORPHA:36899
1861	TOR1A	HP:0010501	Limitation of knee mobility	4/4	OMIM:618947
1861	TOR1A	HP:0003596	Middle age onset	1/1	OMIM:128100
1861	TOR1A	HP:0010628	Facial palsy	1/1	OMIM:128100
1861	TOR1A	HP:0002378	Hand tremor	4/4	OMIM:618947
1861	TOR1A	HP:0002342	Intellectual disability, moderate	1/4	OMIM:618947
1861	TOR1A	HP:0002356	Writer's cramp	HP:0040282	ORPHA:36899
1861	TOR1A	HP:0002356	Writer's cramp	-	OMIM:128100
1861	TOR1A	HP:0100678	Premature skin wrinkling	1/4	OMIM:618947
1861	TOR1A	HP:0003623	Neonatal onset	1/1	OMIM:128100
1861	TOR1A	HP:0002304	Akinesia	1/1	OMIM:618947
1861	TOR1A	HP:0000643	Blepharospasm	-	OMIM:128100
1861	TOR1A	HP:0001927	Acanthocytosis	1/1	OMIM:618947
1861	TOR1A	HP:0003011	Abnormality of the musculature	HP:0040281	ORPHA:256
1861	TOR1A	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:256
1861	TOR1A	HP:0000739	Anxiety	HP:0040282	ORPHA:36899
1861	TOR1A	HP:0000750	Delayed speech and language development	1/4	OMIM:618947
1861	TOR1A	HP:0000716	Depression	-	OMIM:128100
1861	TOR1A	HP:0000716	Depression	HP:0040282	ORPHA:36899
1861	TOR1A	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:36899
1861	TOR1A	HP:0011471	Gastrostomy tube feeding in infancy	1/1	OMIM:618947
1861	TOR1A	HP:0004447	Poikilocytosis	1/1	OMIM:618947
1861	TOR1A	HP:0000878	11 pairs of ribs	1/1	OMIM:618947
1861	TOR1A	HP:0045084	Limb myoclonus	HP:0040281	ORPHA:36899
1861	TOR1A	HP:0008081	Pes valgus	1/1	OMIM:618947
1861	TOR1A	HP:0000269	Prominent occiput	1/1	OMIM:618947
1861	TOR1A	HP:0002827	Hip dislocation	1/1	OMIM:618947
1861	TOR1A	HP:0002828	Multiple joint contractures	1/1	OMIM:128100
1861	TOR1A	HP:0002808	Kyphosis	-	OMIM:128100
1861	TOR1A	HP:0002804	Arthrogryposis multiplex congenita	2/2	OMIM:618947
1861	TOR1A	HP:0000252	Microcephaly	1/1	OMIM:618947
1861	TOR1A	HP:0001561	Polyhydramnios	1/1	OMIM:618947
1861	TOR1A	HP:0001558	Decreased fetal movement	2/2	OMIM:618947
1861	TOR1A	HP:0001522	Death in infancy	1/1	OMIM:618947
1861	TOR1A	HP:0001537	Umbilical hernia	2/5	OMIM:618947
1861	TOR1A	HP:0001511	Intrauterine growth retardation	1/1	OMIM:618947
1861	TOR1A	HP:0001510	Growth delay	1/1	OMIM:618947
1861	TOR1A	HP:0012385	Camptodactyly	1/1	OMIM:618947
1861	TOR1A	HP:0000395	Prominent antihelix	1/1	OMIM:618947
1861	TOR1A	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:256
1861	TOR1A	HP:0001695	Cardiac arrest	1/1	OMIM:618947
1861	TOR1A	HP:0000343	Long philtrum	1/1	OMIM:618947
1861	TOR1A	HP:0000347	Micrognathia	1/1	OMIM:618947
1861	TOR1A	HP:0000311	Round face	1/1	OMIM:618947
1861	TOR1A	HP:0002987	Elbow flexion contracture	4/4	OMIM:618947
1861	TOR1A	HP:0000400	Macrotia	1/1	OMIM:618947
1861	TOR1A	HP:0005272	Prominent nasolabial fold	1/1	OMIM:618947
1861	TOR1A	HP:0000486	Strabismus	4/4	OMIM:618947
1861	TOR1A	HP:0000463	Anteverted nares	1/1	OMIM:618947
1861	TOR1A	HP:0000473	Torticollis	HP:0040282	ORPHA:36899
1861	TOR1A	HP:0000473	Torticollis	-	OMIM:128100
1861	TOR1A	HP:0000470	Short neck	1/1	OMIM:618947
1861	TOR1A	HP:0001765	Hammertoe	5/5	OMIM:618947
1861	TOR1A	HP:0012408	Medullary nephrocalcinosis	1/1	OMIM:618947
1861	TOR1A	HP:0001762	Talipes equinovarus	2/5	OMIM:618947
1861	TOR1A	HP:0000431	Wide nasal bridge	1/1	OMIM:618947
1861	TOR1A	HP:0001838	Rocker bottom foot	1/1	OMIM:618947
1861	TOR1A	HP:0000508	Ptosis	2/4	OMIM:618947
1861	TOR1A	HP:0000582	Upslanted palpebral fissure	1/4	OMIM:618947
1861	TOR1A	HP:0001897	Normocytic anemia	1/1	OMIM:618947
1861	TOR1A	HP:0000543	Optic disc pallor	1/1	OMIM:618947
1889	ECE1	HP:0001182	Tapered finger	1/1	OMIM:613870
1889	ECE1	HP:0100806	Sepsis	HP:0040283	ORPHA:388
1889	ECE1	HP:0001371	Flexion contracture	1/1	OMIM:613870
1889	ECE1	HP:0000054	Micropenis	1/1	OMIM:613870
1889	ECE1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613870
1889	ECE1	HP:0001426	Non-Mendelian inheritance	-	OMIM:145500
1889	ECE1	HP:0002019	Constipation	HP:0040281	ORPHA:388
1889	ECE1	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:388
1889	ECE1	HP:0002027	Abdominal pain	HP:0040281	ORPHA:388
1889	ECE1	HP:0002014	Diarrhea	HP:0040283	ORPHA:388
1889	ECE1	HP:0002133	Status epilepticus	1/1	OMIM:613870
1889	ECE1	HP:0009626	Interphalangeal thumb joint contracture	1/1	OMIM:613870
1889	ECE1	HP:6000224	Delayed passage of meconium	HP:0040282	ORPHA:388
1889	ECE1	HP:0003577	Congenital onset	1/1	OMIM:613870
1889	ECE1	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:388
1889	ECE1	HP:0002251	Aganglionic megacolon	1/1	OMIM:613870
1889	ECE1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:388
1889	ECE1	HP:0004972	Elevated mean arterial pressure	-	OMIM:145500
1889	ECE1	HP:0034754	Bilious emesis	HP:0040282	ORPHA:388
1889	ECE1	HP:0004322	Short stature	HP:0040283	ORPHA:388
1889	ECE1	HP:0004387	Enterocolitis	HP:0040283	ORPHA:388
1889	ECE1	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040281	ORPHA:388
1889	ECE1	HP:0000713	Agitation	1/1	OMIM:613870
1889	ECE1	HP:0004421	Elevated systolic blood pressure	-	OMIM:145500
1889	ECE1	HP:0003196	Short nose	1/1	OMIM:613870
1889	ECE1	HP:0000822	Hypertension	1/1	OMIM:613870
1889	ECE1	HP:0003270	Abdominal distention	HP:0040282	ORPHA:388
1889	ECE1	HP:0005117	Elevated diastolic blood pressure	-	OMIM:145500
1889	ECE1	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:388
1889	ECE1	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:388
1889	ECE1	HP:0031369	Colon perforation	HP:0040283	ORPHA:388
1889	ECE1	HP:0001510	Growth delay	HP:0040283	ORPHA:388
1889	ECE1	HP:0000378	Cupped ear	1/1	OMIM:613870
1889	ECE1	HP:0005214	Intestinal obstruction	HP:0040281	ORPHA:388
1889	ECE1	HP:0000358	Posteriorly rotated ears	1/1	OMIM:613870
1889	ECE1	HP:0012332	Abnormal autonomic nervous system physiology	1/1	OMIM:613870
1889	ECE1	HP:0001649	Tachycardia	1/1	OMIM:613870
1889	ECE1	HP:0001643	Patent ductus arteriosus	1/1	OMIM:613870
1889	ECE1	HP:0001629	Ventricular septal defect	1/1	OMIM:613870
1889	ECE1	HP:0001631	Atrial septal defect	1/1	OMIM:613870
1889	ECE1	HP:0001795	Hyperconvex nail	1/1	OMIM:613870
1889	ECE1	HP:0000414	Bulbous nose	1/1	OMIM:613870
1889	ECE1	HP:0000426	Prominent nasal bridge	1/1	OMIM:613870
1889	ECE1	HP:0001824	Weight loss	HP:0040282	ORPHA:388
1890	TYMP	HP:0001155	Abnormality of the hand	HP:0040282	ORPHA:298
1890	TYMP	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:298
1890	TYMP	HP:0002460	Distal muscle weakness	11/11	OMIM:603041
1890	TYMP	HP:6000570	Reduced tissue thymidine phosphorylase activity	16/16	OMIM:603041
1890	TYMP	HP:0025149	Atrophic muscularis propria	HP:0040281	ORPHA:298
1890	TYMP	HP:0003737	Mitochondrial myopathy	-	OMIM:603041
1890	TYMP	HP:0001284	Areflexia	27/33	OMIM:603041
1890	TYMP	HP:0002579	Gastrointestinal dysmotility	HP:0040281	ORPHA:298
1890	TYMP	HP:0002579	Gastrointestinal dysmotility	-	OMIM:603041
1890	TYMP	HP:0001249	Intellectual disability	HP:0040283	ORPHA:298
1890	TYMP	HP:0001249	Intellectual disability	1/35	OMIM:603041
1890	TYMP	HP:0002578	Gastroparesis	4/7	OMIM:603041
1890	TYMP	HP:0002522	Areflexia of lower limbs	1/1	OMIM:603041
1890	TYMP	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:298
1890	TYMP	HP:0001394	Cirrhosis	HP:0040283	ORPHA:298
1890	TYMP	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:298
1890	TYMP	HP:0000007	Autosomal recessive inheritance	-	OMIM:603041
1890	TYMP	HP:0033748	Hypoesthesia	1/1	OMIM:603041
1890	TYMP	HP:0025461	Abnormal cell morphology	HP:0040283	ORPHA:298
1890	TYMP	HP:0033842	Early satiety	14/15	OMIM:603041
1890	TYMP	HP:0012103	Abnormality of the mitochondrion	HP:0040282	ORPHA:298
1890	TYMP	HP:0001403	Macrovesicular hepatic steatosis	HP:0040283	ORPHA:298
1890	TYMP	HP:0002024	Malabsorption	-	OMIM:603041
1890	TYMP	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:298
1890	TYMP	HP:0002018	Nausea	HP:0040281	ORPHA:298
1890	TYMP	HP:0002019	Constipation	-	OMIM:603041
1890	TYMP	HP:0003348	Hyperalaninemia	HP:0040282	ORPHA:298
1890	TYMP	HP:0002027	Abdominal pain	HP:0040281	ORPHA:298
1890	TYMP	HP:0002027	Abdominal pain	17/18	OMIM:603041
1890	TYMP	HP:0002014	Diarrhea	HP:0040282	ORPHA:298
1890	TYMP	HP:0002014	Diarrhea	27/29	OMIM:603041
1890	TYMP	HP:0002015	Dysphagia	HP:0040281	ORPHA:298
1890	TYMP	HP:0002015	Dysphagia	12/28	OMIM:603041
1890	TYMP	HP:0002013	Vomiting	HP:0040281	ORPHA:298
1890	TYMP	HP:0002013	Vomiting	24/32	OMIM:603041
1890	TYMP	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	HP:0040282	ORPHA:298
1890	TYMP	HP:0003388	Easy fatigability	HP:0040282	ORPHA:298
1890	TYMP	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:298
1890	TYMP	HP:0003448	Decreased sensory nerve conduction velocity	HP:0040282	ORPHA:298
1890	TYMP	HP:0003431	Decreased motor nerve conduction velocity	HP:0040282	ORPHA:298
1890	TYMP	HP:0003401	Paresthesia	HP:0040282	ORPHA:298
1890	TYMP	HP:0002254	Intermittent diarrhea	-	OMIM:603041
1890	TYMP	HP:0002253	Colonic diverticula	16/24	OMIM:603041
1890	TYMP	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	-	OMIM:603041
1890	TYMP	HP:0003693	Distal amyotrophy	-	OMIM:603041
1890	TYMP	HP:0003688	Cytochrome C oxidase-negative muscle fibers	-	OMIM:603041
1890	TYMP	HP:0003689	Multiple mitochondrial DNA deletions	0/1	OMIM:603041
1890	TYMP	HP:0003676	Progressive	-	OMIM:603041
1890	TYMP	HP:0002352	Leukoencephalopathy	-	OMIM:603041
1890	TYMP	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:298
1890	TYMP	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:298
1890	TYMP	HP:0009830	Peripheral neuropathy	34/34	OMIM:603041
1890	TYMP	HP:0100613	Death in early adulthood	-	OMIM:603041
1890	TYMP	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:298
1890	TYMP	HP:0007141	Sensorimotor neuropathy	1/1	OMIM:603041
1890	TYMP	HP:0032155	Abdominal cramps	25/28	OMIM:603041
1890	TYMP	HP:0007103	Hypointensity of cerebral white matter on MRI	-	OMIM:603041
1890	TYMP	HP:0007108	Demyelinating peripheral neuropathy	HP:0040282	ORPHA:298
1890	TYMP	HP:0003621	Juvenile onset	1/1	OMIM:603041
1890	TYMP	HP:0000651	Diplopia	1/1	OMIM:603041
1890	TYMP	HP:0001903	Anemia	HP:0040283	ORPHA:298
1890	TYMP	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:298
1890	TYMP	HP:0004326	Cachexia	-	OMIM:603041
1890	TYMP	HP:0004326	Cachexia	HP:0040281	ORPHA:298
1890	TYMP	HP:0004389	Intestinal pseudo-obstruction	11/17	OMIM:603041
1890	TYMP	HP:0004396	Poor appetite	HP:0040281	ORPHA:298
1890	TYMP	HP:0004395	Malnutrition	-	OMIM:603041
1890	TYMP	HP:0000726	Dementia	HP:0040284	ORPHA:298
1890	TYMP	HP:0000726	Dementia	0/35	OMIM:603041
1890	TYMP	HP:0003199	Decreased muscle mass	HP:0040283	ORPHA:298
1890	TYMP	HP:0034276	Elevated circulating thymidine concentration	1/1	OMIM:603041
1890	TYMP	HP:0034277	Elevated circulating deoxyuridine concentration	1/1	OMIM:603041
1890	TYMP	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:298
1890	TYMP	HP:0003128	Lactic acidosis	-	OMIM:603041
1890	TYMP	HP:0012850	Small intestinal dysmotility	HP:0040281	ORPHA:298
1890	TYMP	HP:0000815	Hypergonadotropic hypogonadism	HP:0040283	ORPHA:298
1890	TYMP	HP:0003200	Ragged-red muscle fibers	-	OMIM:603041
1890	TYMP	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:298
1890	TYMP	HP:0003270	Abdominal distention	HP:0040281	ORPHA:298
1890	TYMP	HP:0008049	Abnormality of the extraocular muscles	HP:0040282	ORPHA:298
1890	TYMP	HP:0001533	Slender build	-	OMIM:603041
1890	TYMP	HP:0031368	Intestinal perforation	-	OMIM:603041
1890	TYMP	HP:0002936	Distal sensory impairment	-	OMIM:603041
1890	TYMP	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:298
1890	TYMP	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:298
1890	TYMP	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040282	ORPHA:298
1890	TYMP	HP:0030143	Hyperactive bowel sounds	24/25	OMIM:603041
1890	TYMP	HP:0000407	Sensorineural hearing impairment	14/31	OMIM:603041
1890	TYMP	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:298
1890	TYMP	HP:0001824	Weight loss	HP:0040282	ORPHA:298
1890	TYMP	HP:0001824	Weight loss	20/20	OMIM:603041
1890	TYMP	HP:0000508	Ptosis	35/35	OMIM:603041
1890	TYMP	HP:0000508	Ptosis	HP:0040282	ORPHA:298
1890	TYMP	HP:0000597	Ophthalmoparesis	35/35	OMIM:603041
1890	TYMP	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:298
1890	TYMP	HP:0000590	Progressive external ophthalmoplegia	11/11	OMIM:603041
1890	TYMP	HP:0012533	Allodynia	1/1	OMIM:603041
1890	TYMP	HP:0000544	External ophthalmoplegia	HP:0040281	ORPHA:298
1892	ECHS1	HP:0002490	Increased CSF lactate	2/2	OMIM:616277
1892	ECHS1	HP:0001290	Generalized hypotonia	2/2	OMIM:616277
1892	ECHS1	HP:0001252	Hypotonia	-	OMIM:616277
1892	ECHS1	HP:0001263	Global developmental delay	-	OMIM:616277
1892	ECHS1	HP:0001257	Spasticity	-	OMIM:616277
1892	ECHS1	HP:0007366	Atrophy/Degeneration affecting the brainstem	1/2	OMIM:616277
1892	ECHS1	HP:0001332	Dystonia	-	OMIM:616277
1892	ECHS1	HP:0033725	Thin corpus callosum	1/2	OMIM:616277
1892	ECHS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616277
1892	ECHS1	HP:0002033	Poor suck	1/2	OMIM:616277
1892	ECHS1	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:616277
1892	ECHS1	HP:0002104	Apnea	2/2	OMIM:616277
1892	ECHS1	HP:0010544	Vertical nystagmus	1/2	OMIM:616277
1892	ECHS1	HP:0003577	Congenital onset	2/2	OMIM:616277
1892	ECHS1	HP:0011968	Feeding difficulties	1/2	OMIM:616277
1892	ECHS1	HP:6000469	Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level	4/4	OMIM:616277
1892	ECHS1	HP:0000639	Nystagmus	-	OMIM:616277
1892	ECHS1	HP:0011344	Severe global developmental delay	1/2	OMIM:616277
1892	ECHS1	HP:0012707	Elevated brain lactate level by MRS	2/2	OMIM:616277
1892	ECHS1	HP:0002878	Respiratory failure	1/2	OMIM:616277
1892	ECHS1	HP:0001522	Death in infancy	2/2	OMIM:616277
1892	ECHS1	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2/2	OMIM:616277
1892	ECHS1	HP:0000365	Hearing impairment	HP:0040283	OMIM:616277
1892	ECHS1	HP:0001662	Bradycardia	1/2	OMIM:616277
1892	ECHS1	HP:0001629	Ventricular septal defect	1/2	OMIM:616277
1892	ECHS1	HP:0001639	Hypertrophic cardiomyopathy	1/2	OMIM:616277
1892	ECHS1	HP:0012444	Brain atrophy	1/2	OMIM:616277
1893	ECM1	HP:0001250	Seizure	2/10	OMIM:247100
1893	ECM1	HP:0001250	Seizure	HP:0040283	ORPHA:530
1893	ECM1	HP:6000656	Papillary dermis eosinophilic hyaline material	-	OMIM:247100
1893	ECM1	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:530
1893	ECM1	HP:0001332	Dystonia	HP:0040282	ORPHA:530
1893	ECM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:247100
1893	ECM1	HP:6000842	Multiple eyelid beaded papules	1/1	OMIM:247100
1893	ECM1	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:530
1893	ECM1	HP:0000199	Tongue nodules	HP:0040281	ORPHA:530
1893	ECM1	HP:0000171	Microglossia	HP:0040282	ORPHA:530
1893	ECM1	HP:0000168	Abnormality of the gingiva	HP:0040281	ORPHA:530
1893	ECM1	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:530
1893	ECM1	HP:0002015	Dysphagia	HP:0040282	ORPHA:530
1893	ECM1	HP:0100582	Nasal polyposis	HP:0040283	ORPHA:530
1893	ECM1	HP:0002121	Generalized non-motor (absence) seizure	1/10	OMIM:247100
1893	ECM1	HP:0011830	Abnormal oral mucosa morphology	HP:0040281	ORPHA:530
1893	ECM1	HP:0003593	Infantile onset	3/8	OMIM:247100
1893	ECM1	HP:0003577	Congenital onset	3/8	OMIM:247100
1893	ECM1	HP:0002232	Patchy alopecia	-	OMIM:247100
1893	ECM1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:530
1893	ECM1	HP:0002293	Alopecia of scalp	HP:0040282	ORPHA:530
1893	ECM1	HP:0011999	Paranoia	-	OMIM:247100
1893	ECM1	HP:0001061	Acne	HP:0040281	ORPHA:530
1893	ECM1	HP:0002354	Memory impairment	-	OMIM:247100
1893	ECM1	HP:0200035	Skin plaque	1/10	OMIM:247100
1893	ECM1	HP:0200034	Papule	HP:0040281	ORPHA:530
1893	ECM1	HP:0200034	Papule	7/10	OMIM:247100
1893	ECM1	HP:0200039	Pustule	HP:0040281	ORPHA:530
1893	ECM1	HP:0001072	Thickened skin	HP:0040281	ORPHA:530
1893	ECM1	HP:0001072	Thickened skin	2/10	OMIM:247100
1893	ECM1	HP:0200043	Verrucae	HP:0040282	ORPHA:530
1893	ECM1	HP:0200041	Skin erosion	1/10	OMIM:247100
1893	ECM1	HP:0100699	Scarring	HP:0040281	ORPHA:530
1893	ECM1	HP:0100699	Scarring	9/10	OMIM:247100
1893	ECM1	HP:0034760	Reduced epidermal extracellular matrix protein 1 protein expression	-	OMIM:247100
1893	ECM1	HP:0005671	Bilateral intracerebral calcifications	-	OMIM:247100
1893	ECM1	HP:0000738	Hallucinations	-	OMIM:247100
1893	ECM1	HP:0000718	Aggressive behavior	-	OMIM:247100
1893	ECM1	HP:0011463	Childhood onset	2/8	OMIM:247100
1893	ECM1	HP:0034293	Temporal lobe calcification	3/10	OMIM:247100
1893	ECM1	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:530
1893	ECM1	HP:0000962	Hyperkeratosis	1/10	OMIM:247100
1893	ECM1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:530
1893	ECM1	HP:0008066	Abnormal blistering of the skin	1/10	OMIM:247100
1893	ECM1	HP:0000218	High palate	HP:0040282	ORPHA:530
1893	ECM1	HP:0001609	Hoarse voice	HP:0040281	ORPHA:530
1893	ECM1	HP:0001609	Hoarse voice	10/10	OMIM:247100
1896	EDA	HP:0001106	Periorbital hyperpigmentation	1/1	OMIM:305100
1896	EDA	HP:0009882	Short distal phalanx of finger	HP:0040283	ORPHA:181
1896	EDA	HP:0002561	Absent nipple	-	OMIM:305100
1896	EDA	HP:0002557	Hypoplastic nipples	-	OMIM:305100
1896	EDA	HP:0007411	Hypoplastic-absent sebaceous glands	-	OMIM:305100
1896	EDA	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:181
1896	EDA	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:99798
1896	EDA	HP:0006344	Abnormal primary molar morphology	HP:0040283	ORPHA:99798
1896	EDA	HP:0006336	Short dental root	HP:0040282	ORPHA:99798
1896	EDA	HP:0007607	Hypohidrotic ectodermal dysplasia	-	OMIM:305100
1896	EDA	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:99798
1896	EDA	HP:0006289	Agenesis of central incisor	HP:0040282	ORPHA:99798
1896	EDA	HP:0007592	Aplasia/Hypoplasia of the eccrine sweat glands	-	OMIM:305100
1896	EDA	HP:0001423	X-linked dominant inheritance	-	OMIM:313500
1896	EDA	HP:0001419	X-linked recessive inheritance	-	OMIM:305100
1896	EDA	HP:0002019	Constipation	1/1	OMIM:305100
1896	EDA	HP:0002007	Frontal bossing	-	OMIM:305100
1896	EDA	HP:0002007	Frontal bossing	HP:0040282	ORPHA:181
1896	EDA	HP:0002098	Respiratory distress	-	OMIM:305100
1896	EDA	HP:0002046	Heat intolerance	-	OMIM:305100
1896	EDA	HP:0002046	Heat intolerance	0/5	OMIM:313500
1896	EDA	HP:0011830	Abnormal oral mucosa morphology	-	OMIM:305100
1896	EDA	HP:0003593	Infantile onset	2/2	OMIM:305100
1896	EDA	HP:0002223	Absent eyebrow	2/2	OMIM:305100
1896	EDA	HP:0002231	Sparse body hair	HP:0040281	ORPHA:181
1896	EDA	HP:0002231	Sparse body hair	1/1	OMIM:305100
1896	EDA	HP:0002213	Fine hair	1/1	OMIM:305100
1896	EDA	HP:0200153	Agenesis of lateral incisor	5/5	OMIM:313500
1896	EDA	HP:0002299	Brittle hair	-	OMIM:305100
1896	EDA	HP:0010667	Aplasia of the maxilla	5/5	OMIM:313500
1896	EDA	HP:0011947	Respiratory tract infection	0/5	OMIM:313500
1896	EDA	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:181
1896	EDA	HP:0010803	Everted upper lip vermilion	-	OMIM:305100
1896	EDA	HP:0010803	Everted upper lip vermilion	HP:0040281	ORPHA:181
1896	EDA	HP:0009804	Tooth agenesis	-	OMIM:313500
1896	EDA	HP:0001945	Fever	1/1	OMIM:305100
1896	EDA	HP:0000607	Periorbital wrinkles	2/2	OMIM:305100
1896	EDA	HP:0000696	Delayed eruption of permanent teeth	HP:0040282	ORPHA:99798
1896	EDA	HP:0000698	Conical tooth	-	OMIM:305100
1896	EDA	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:181
1896	EDA	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:99798
1896	EDA	HP:0000679	Taurodontia	-	OMIM:305100
1896	EDA	HP:0000679	Taurodontia	HP:0040283	ORPHA:99798
1896	EDA	HP:0000674	Anodontia	-	OMIM:313500
1896	EDA	HP:0000677	Oligodontia	-	OMIM:313500
1896	EDA	HP:0000677	Oligodontia	HP:0040280	ORPHA:99798
1896	EDA	HP:0000691	Microdontia	-	OMIM:305100
1896	EDA	HP:0000691	Microdontia	HP:0040281	ORPHA:181
1896	EDA	HP:0000691	Microdontia	HP:0040282	ORPHA:99798
1896	EDA	HP:0000690	Agenesis of maxillary lateral incisor	HP:0040282	ORPHA:99798
1896	EDA	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:99798
1896	EDA	HP:0000685	Hypoplasia of teeth	HP:0040283	ORPHA:99798
1896	EDA	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:99798
1896	EDA	HP:0000653	Sparse eyelashes	-	OMIM:305100
1896	EDA	HP:0000668	Hypodontia	1/1	OMIM:305100
1896	EDA	HP:0000668	Hypodontia	5/5	OMIM:313500
1896	EDA	HP:0003196	Short nose	-	OMIM:305100
1896	EDA	HP:0000830	Anterior hypopituitarism	HP:0040283	ORPHA:181
1896	EDA	HP:0000822	Hypertension	HP:0040283	ORPHA:181
1896	EDA	HP:0045075	Sparse eyebrow	-	OMIM:305100
1896	EDA	HP:0000977	Soft skin	-	OMIM:305100
1896	EDA	HP:0000958	Dry skin	2/2	OMIM:305100
1896	EDA	HP:0000970	Anhidrosis	-	OMIM:305100
1896	EDA	HP:0000964	Eczematoid dermatitis	-	OMIM:305100
1896	EDA	HP:0000966	Hypohidrosis	1/1	OMIM:305100
1896	EDA	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:181
1896	EDA	HP:0000963	Thin skin	-	OMIM:305100
1896	EDA	HP:0008070	Sparse hair	1/1	OMIM:305100
1896	EDA	HP:0008070	Sparse hair	HP:0040281	ORPHA:181
1896	EDA	HP:0001592	Selective tooth agenesis	-	OMIM:313500
1896	EDA	HP:0001598	Concave nail	-	OMIM:305100
1896	EDA	HP:0000232	Everted lower lip vermilion	-	OMIM:305100
1896	EDA	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:181
1896	EDA	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:99798
1896	EDA	HP:0011078	Abnormality of canine	HP:0040283	ORPHA:99798
1896	EDA	HP:0011053	Agenesis of mandibular premolar	HP:0040283	ORPHA:99798
1896	EDA	HP:0011051	Agenesis of premolar	9/10	OMIM:313500
1896	EDA	HP:0011051	Agenesis of premolar	HP:0040282	ORPHA:99798
1896	EDA	HP:0011056	Agenesis of first permanent molar tooth	HP:0040282	ORPHA:99798
1896	EDA	HP:0011054	Agenesis of molar	9/10	OMIM:313500
1896	EDA	HP:0012384	Rhinitis	-	OMIM:305100
1896	EDA	HP:0005216	Impaired mastication	HP:0040281	ORPHA:99798
1896	EDA	HP:0001609	Hoarse voice	-	OMIM:305100
1896	EDA	HP:0001618	Dysphonia	-	OMIM:305100
1896	EDA	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:99798
1896	EDA	HP:0000336	Prominent supraorbital ridges	-	OMIM:305100
1896	EDA	HP:0000331	Short chin	-	OMIM:305100
1896	EDA	HP:0000327	Hypoplasia of the maxilla	-	OMIM:305100
1896	EDA	HP:0005280	Depressed nasal bridge	1/1	OMIM:305100
1896	EDA	HP:0012471	Thick vermilion border	1/1	OMIM:305100
1896	EDA	HP:0012472	Eclabion	HP:0040283	ORPHA:99798
1896	EDA	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:181
1896	EDA	HP:0000430	Underdeveloped nasal alae	-	OMIM:305100
1896	EDA	HP:0000561	Absent eyelashes	-	OMIM:305100
1896	EDA	HP:0011219	Short face	HP:0040283	ORPHA:99798
1896	EDA	HP:0011220	Prominent forehead	1/1	OMIM:305100
1906	EDN1	HP:0009902	Cleft helix	HP:0040281	ORPHA:137888
1906	EDN1	HP:0009895	Abnormality of the crus of the helix	HP:0040282	ORPHA:137888
1906	EDN1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1906	EDN1	HP:0001293	Cranial nerve compression	-	OMIM:131300
1906	EDN1	HP:0025267	Snoring	HP:0040282	ORPHA:137888
1906	EDN1	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:137888
1906	EDN1	HP:0001252	Hypotonia	2/7	OMIM:615777
1906	EDN1	HP:0001249	Intellectual disability	5/7	OMIM:615777
1906	EDN1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:137888
1906	EDN1	HP:0001263	Global developmental delay	-	OMIM:615777
1906	EDN1	HP:0008772	Aplasia/Hypoplasia of the external ear	HP:0040282	ORPHA:137888
1906	EDN1	HP:0008751	Laryngeal cleft	1/9	OMIM:615706
1906	EDN1	HP:0002515	Waddling gait	54/102	OMIM:131300
1906	EDN1	HP:0001382	Joint hypermobility	-	OMIM:615777
1906	EDN1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1906	EDN1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1906	EDN1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1906	EDN1	HP:0001324	Muscle weakness	40/96	OMIM:131300
1906	EDN1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1906	EDN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615706
1906	EDN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1906	EDN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:612798
1906	EDN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1906	EDN1	HP:0002650	Scoliosis	12/14	OMIM:131300
1906	EDN1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1906	EDN1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1906	EDN1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1906	EDN1	HP:0000183	Tongue muscle weakness	HP:0040282	ORPHA:137888
1906	EDN1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1906	EDN1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:137888
1906	EDN1	HP:0000193	Bifid uvula	2/9	OMIM:615706
1906	EDN1	HP:0000160	Narrow mouth	HP:0040282	ORPHA:137888
1906	EDN1	HP:0000162	Glossoptosis	HP:0040282	ORPHA:137888
1906	EDN1	HP:0000162	Glossoptosis	1/9	OMIM:615706
1906	EDN1	HP:0000175	Cleft palate	HP:0040282	ORPHA:137888
1906	EDN1	HP:0000175	Cleft palate	2/7	OMIM:615777
1906	EDN1	HP:0000171	Microglossia	HP:0040283	ORPHA:137888
1906	EDN1	HP:0007627	Mandibular condyle aplasia	HP:0040283	ORPHA:137888
1906	EDN1	HP:0007628	Mandibular condyle hypoplasia	HP:0040281	ORPHA:137888
1906	EDN1	HP:0011802	Hamartoma of tongue	HP:0040283	ORPHA:137888
1906	EDN1	HP:0002098	Respiratory distress	HP:0040282	ORPHA:137888
1906	EDN1	HP:0003388	Easy fatigability	36/76	OMIM:131300
1906	EDN1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1906	EDN1	HP:0003577	Congenital onset	9/9	OMIM:615706
1906	EDN1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:137888
1906	EDN1	HP:0003510	Severe short stature	7/7	OMIM:615777
1906	EDN1	HP:0002315	Headache	-	OMIM:131300
1906	EDN1	HP:0004976	Knee dislocation	6/7	OMIM:615777
1906	EDN1	HP:0008513	Bilateral conductive hearing impairment	1/9	OMIM:615706
1906	EDN1	HP:0009803	Short phalanx of finger	-	OMIM:615777
1906	EDN1	HP:0010754	Abnormality of the temporomandibular joint	HP:0040282	ORPHA:137888
1906	EDN1	HP:0009763	Limb pain	63/92	OMIM:131300
1906	EDN1	HP:0003621	Juvenile onset	-	OMIM:131300
1906	EDN1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1906	EDN1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1906	EDN1	HP:6001056	Out-toeing	-	OMIM:131300
1906	EDN1	HP:0000651	Diplopia	-	OMIM:131300
1906	EDN1	HP:0001956	Truncal obesity	2/7	OMIM:615777
1906	EDN1	HP:0001903	Anemia	HP:0040283	OMIM:131300
1906	EDN1	HP:0010049	Short metacarpal	-	OMIM:615777
1906	EDN1	HP:0000678	Dental crowding	-	OMIM:615777
1906	EDN1	HP:0000678	Dental crowding	HP:0040282	ORPHA:137888
1906	EDN1	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:137888
1906	EDN1	HP:0000656	Ectropion	1/9	OMIM:615706
1906	EDN1	HP:0000670	Carious teeth	-	OMIM:131300
1906	EDN1	HP:0011304	Broad thumb	2/7	OMIM:615777
1906	EDN1	HP:0000668	Hypodontia	-	OMIM:615777
1906	EDN1	HP:0000664	Synophrys	-	OMIM:615777
1906	EDN1	HP:0004396	Poor appetite	-	OMIM:131300
1906	EDN1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1906	EDN1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1906	EDN1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1906	EDN1	HP:0003026	Short long bone	7/7	OMIM:615777
1906	EDN1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1906	EDN1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1906	EDN1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1906	EDN1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1906	EDN1	HP:0000750	Delayed speech and language development	-	OMIM:615777
1906	EDN1	HP:0011461	Fetal onset	7/7	OMIM:615777
1906	EDN1	HP:0000774	Narrow chest	2/7	OMIM:615777
1906	EDN1	HP:0000926	Platyspondyly	1/7	OMIM:615777
1906	EDN1	HP:0003180	Flat acetabular roof	-	OMIM:615777
1906	EDN1	HP:0004482	Relative macrocephaly	-	OMIM:615777
1906	EDN1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1906	EDN1	HP:0030713	Vein of Galen aneurysmal malformation	HP:0040284	ORPHA:137888
1906	EDN1	HP:0000823	Delayed puberty	-	OMIM:131300
1906	EDN1	HP:0000894	Short clavicles	-	OMIM:615777
1906	EDN1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1906	EDN1	HP:0100277	Periauricular skin pits	HP:0040282	ORPHA:137888
1906	EDN1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1906	EDN1	HP:0000286	Epicanthus	1/7	OMIM:615777
1906	EDN1	HP:0000280	Coarse facial features	2/7	OMIM:615777
1906	EDN1	HP:0000278	Retrognathia	4/9	OMIM:615706
1906	EDN1	HP:0000293	Full cheeks	HP:0040282	ORPHA:137888
1906	EDN1	HP:0000293	Full cheeks	-	OMIM:615706
1906	EDN1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:137888
1906	EDN1	HP:0002827	Hip dislocation	3/7	OMIM:615777
1906	EDN1	HP:0000252	Microcephaly	-	OMIM:615777
1906	EDN1	HP:0002857	Genu valgum	-	OMIM:131300
1906	EDN1	HP:0002870	Obstructive sleep apnea	HP:0040282	ORPHA:137888
1906	EDN1	HP:0030022	Question mark ear	-	OMIM:612798
1906	EDN1	HP:0030022	Question mark ear	HP:0040282	ORPHA:137888
1906	EDN1	HP:0030022	Question mark ear	9/9	OMIM:615706
1906	EDN1	HP:0001533	Slender build	-	OMIM:131300
1906	EDN1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1906	EDN1	HP:0007807	Optic nerve compression	-	OMIM:131300
1906	EDN1	HP:0000384	Preauricular skin tag	HP:0040282	ORPHA:137888
1906	EDN1	HP:0012368	Flat face	7/7	OMIM:615777
1906	EDN1	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:137888
1906	EDN1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1906	EDN1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:137888
1906	EDN1	HP:0000365	Hearing impairment	10/67	OMIM:131300
1906	EDN1	HP:0000364	Hearing abnormality	0/2	OMIM:612798
1906	EDN1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:137888
1906	EDN1	HP:0000343	Long philtrum	1/7	OMIM:615777
1906	EDN1	HP:0011001	Increased bone mineral density	-	OMIM:131300
1906	EDN1	HP:0000347	Micrognathia	HP:0040282	ORPHA:137888
1906	EDN1	HP:0000347	Micrognathia	4/9	OMIM:615706
1906	EDN1	HP:0000311	Round face	2/7	OMIM:615777
1906	EDN1	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:137888
1906	EDN1	HP:0002970	Genu varum	-	OMIM:615777
1906	EDN1	HP:0000303	Mandibular prognathia	-	OMIM:131300
1906	EDN1	HP:0000402	Stenosis of the external auditory canal	1/9	OMIM:615706
1906	EDN1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1906	EDN1	HP:0000470	Short neck	1/7	OMIM:615777
1906	EDN1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1906	EDN1	HP:0001763	Pes planus	1/7	OMIM:615777
1906	EDN1	HP:0001840	Metatarsus adductus	-	OMIM:615777
1906	EDN1	HP:0000520	Proptosis	2/4	OMIM:131300
1906	EDN1	HP:0000520	Proptosis	7/7	OMIM:615777
1906	EDN1	HP:0000508	Ptosis	HP:0040283	ORPHA:137888
1906	EDN1	HP:0000592	Blue sclerae	2/7	OMIM:615777
1906	EDN1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1906	EDN1	HP:0012514	Lower limb pain	4/4	OMIM:131300
1908	EDN3	HP:0001103	Abnormal macular morphology	HP:0040281	ORPHA:897
1908	EDN3	HP:0001100	Heterochromia iridis	-	OMIM:613265
1908	EDN3	HP:0100806	Sepsis	HP:0040283	ORPHA:388
1908	EDN3	HP:0001250	Seizure	HP:0040283	ORPHA:661
1908	EDN3	HP:0001252	Hypotonia	HP:0040283	ORPHA:661
1908	EDN3	HP:0001341	Olfactory lobe agenesis	HP:0040282	ORPHA:897
1908	EDN3	HP:0000007	Autosomal recessive inheritance	-	OMIM:613265
1908	EDN3	HP:0000006	Autosomal dominant inheritance	-	OMIM:613265
1908	EDN3	HP:0000006	Autosomal dominant inheritance	-	OMIM:613712
1908	EDN3	HP:0002019	Constipation	HP:0040281	ORPHA:388
1908	EDN3	HP:0002019	Constipation	HP:0040281	ORPHA:897
1908	EDN3	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:388
1908	EDN3	HP:0002027	Abdominal pain	HP:0040281	ORPHA:388
1908	EDN3	HP:0002027	Abdominal pain	HP:0040282	ORPHA:897
1908	EDN3	HP:0002014	Diarrhea	HP:0040283	ORPHA:388
1908	EDN3	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:661
1908	EDN3	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:661
1908	EDN3	HP:6000224	Delayed passage of meconium	HP:0040282	ORPHA:388
1908	EDN3	HP:0002270	Abnormality of the autonomic nervous system	HP:0040281	ORPHA:661
1908	EDN3	HP:0003577	Congenital onset	2/2	OMIM:613712
1908	EDN3	HP:0002242	Abnormal intestine morphology	HP:0040281	ORPHA:897
1908	EDN3	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:661
1908	EDN3	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:388
1908	EDN3	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:897
1908	EDN3	HP:0002251	Aganglionic megacolon	-	OMIM:613265
1908	EDN3	HP:0002251	Aganglionic megacolon	2/2	OMIM:613712
1908	EDN3	HP:0002216	Premature graying of hair	-	OMIM:613265
1908	EDN3	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:897
1908	EDN3	HP:0002227	White eyelashes	-	OMIM:613265
1908	EDN3	HP:0002227	White eyelashes	HP:0040281	ORPHA:897
1908	EDN3	HP:0002226	White eyebrow	-	OMIM:613265
1908	EDN3	HP:0002226	White eyebrow	HP:0040281	ORPHA:897
1908	EDN3	HP:0002211	White forelock	-	OMIM:613265
1908	EDN3	HP:0002211	White forelock	HP:0040281	ORPHA:897
1908	EDN3	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:388
1908	EDN3	HP:0001053	Hypopigmented skin patches	-	OMIM:613265
1908	EDN3	HP:0034754	Bilious emesis	HP:0040282	ORPHA:388
1908	EDN3	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:897
1908	EDN3	HP:0000635	Blue irides	-	OMIM:613265
1908	EDN3	HP:0000664	Synophrys	HP:0040282	ORPHA:897
1908	EDN3	HP:0004322	Short stature	HP:0040283	ORPHA:388
1908	EDN3	HP:0003005	Ganglioneuroma	HP:0040283	ORPHA:661
1908	EDN3	HP:0004387	Enterocolitis	HP:0040283	ORPHA:388
1908	EDN3	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:661
1908	EDN3	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:661
1908	EDN3	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040281	ORPHA:388
1908	EDN3	HP:0003270	Abdominal distention	HP:0040282	ORPHA:388
1908	EDN3	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:897
1908	EDN3	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:388
1908	EDN3	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:388
1908	EDN3	HP:0031369	Colon perforation	HP:0040283	ORPHA:388
1908	EDN3	HP:0001510	Growth delay	HP:0040283	ORPHA:388
1908	EDN3	HP:0005214	Intestinal obstruction	HP:0040281	ORPHA:388
1908	EDN3	HP:0005214	Intestinal obstruction	HP:0040281	ORPHA:897
1908	EDN3	HP:0000365	Hearing impairment	HP:0040281	ORPHA:897
1908	EDN3	HP:0000366	Abnormality of the nose	HP:0040282	ORPHA:897
1908	EDN3	HP:0000407	Sensorineural hearing impairment	-	OMIM:613265
1908	EDN3	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:897
1908	EDN3	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:897
1908	EDN3	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:897
1908	EDN3	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:897
1908	EDN3	HP:0006747	Ganglioneuroblastoma	HP:0040283	ORPHA:661
1908	EDN3	HP:0001824	Weight loss	HP:0040282	ORPHA:388
1908	EDN3	HP:0000506	Telecanthus	HP:0040283	ORPHA:897
1908	EDN3	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:897
1908	EDN3	HP:0000534	Abnormal eyebrow morphology	HP:0040281	ORPHA:897
1909	EDNRA	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
1909	EDNRA	HP:0008551	Microtia	3/4	OMIM:616367
1909	EDNRA	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1909	EDNRA	HP:0001293	Cranial nerve compression	-	OMIM:131300
1909	EDNRA	HP:0001252	Hypotonia	2/7	OMIM:615777
1909	EDNRA	HP:0001249	Intellectual disability	5/7	OMIM:615777
1909	EDNRA	HP:0001263	Global developmental delay	-	OMIM:615777
1909	EDNRA	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
1909	EDNRA	HP:0002515	Waddling gait	54/102	OMIM:131300
1909	EDNRA	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
1909	EDNRA	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
1909	EDNRA	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
1909	EDNRA	HP:0000072	Hydroureter	1/4	OMIM:616367
1909	EDNRA	HP:0001382	Joint hypermobility	-	OMIM:615777
1909	EDNRA	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1909	EDNRA	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1909	EDNRA	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1909	EDNRA	HP:0001324	Muscle weakness	40/96	OMIM:131300
1909	EDNRA	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1909	EDNRA	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1909	EDNRA	HP:0000006	Autosomal dominant inheritance	-	OMIM:616367
1909	EDNRA	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1909	EDNRA	HP:0000006	Autosomal dominant inheritance	-	OMIM:157300
1909	EDNRA	HP:0002650	Scoliosis	12/14	OMIM:131300
1909	EDNRA	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1909	EDNRA	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1909	EDNRA	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1909	EDNRA	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1909	EDNRA	HP:0000162	Glossoptosis	1/4	OMIM:616367
1909	EDNRA	HP:0000175	Cleft palate	3/4	OMIM:616367
1909	EDNRA	HP:0000175	Cleft palate	2/7	OMIM:615777
1909	EDNRA	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
1909	EDNRA	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
1909	EDNRA	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
1909	EDNRA	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
1909	EDNRA	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
1909	EDNRA	HP:0002018	Nausea	-	OMIM:157300
1909	EDNRA	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
1909	EDNRA	HP:0002013	Vomiting	-	OMIM:157300
1909	EDNRA	HP:0002083	Migraine without aura	-	OMIM:157300
1909	EDNRA	HP:0002099	Asthma	HP:0040283	ORPHA:586
1909	EDNRA	HP:0002077	Migraine with aura	-	OMIM:157300
1909	EDNRA	HP:0003388	Easy fatigability	36/76	OMIM:131300
1909	EDNRA	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1909	EDNRA	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
1909	EDNRA	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
1909	EDNRA	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
1909	EDNRA	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
1909	EDNRA	HP:0002183	Phonophobia	-	OMIM:157300
1909	EDNRA	HP:0003577	Congenital onset	4/4	OMIM:616367
1909	EDNRA	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
1909	EDNRA	HP:0003510	Severe short stature	7/7	OMIM:615777
1909	EDNRA	HP:0002315	Headache	-	OMIM:131300
1909	EDNRA	HP:0004976	Knee dislocation	6/7	OMIM:615777
1909	EDNRA	HP:0009803	Short phalanx of finger	-	OMIM:615777
1909	EDNRA	HP:0009763	Limb pain	63/92	OMIM:131300
1909	EDNRA	HP:0003621	Juvenile onset	-	OMIM:131300
1909	EDNRA	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1909	EDNRA	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1909	EDNRA	HP:6001056	Out-toeing	-	OMIM:131300
1909	EDNRA	HP:0000651	Diplopia	-	OMIM:131300
1909	EDNRA	HP:0000613	Photophobia	-	OMIM:157300
1909	EDNRA	HP:0001956	Truncal obesity	2/7	OMIM:615777
1909	EDNRA	HP:0001903	Anemia	HP:0040283	OMIM:131300
1909	EDNRA	HP:0010049	Short metacarpal	-	OMIM:615777
1909	EDNRA	HP:0000680	Delayed eruption of primary teeth	1/4	OMIM:616367
1909	EDNRA	HP:0000678	Dental crowding	-	OMIM:615777
1909	EDNRA	HP:0000678	Dental crowding	1/4	OMIM:616367
1909	EDNRA	HP:0000653	Sparse eyelashes	3/4	OMIM:616367
1909	EDNRA	HP:0000652	Lower eyelid coloboma	1/4	OMIM:616367
1909	EDNRA	HP:0000670	Carious teeth	-	OMIM:131300
1909	EDNRA	HP:0011304	Broad thumb	2/7	OMIM:615777
1909	EDNRA	HP:0000668	Hypodontia	-	OMIM:615777
1909	EDNRA	HP:0000664	Synophrys	-	OMIM:615777
1909	EDNRA	HP:0004396	Poor appetite	-	OMIM:131300
1909	EDNRA	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1909	EDNRA	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1909	EDNRA	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1909	EDNRA	HP:0003026	Short long bone	7/7	OMIM:615777
1909	EDNRA	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1909	EDNRA	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1909	EDNRA	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1909	EDNRA	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1909	EDNRA	HP:0000739	Anxiety	HP:0040283	ORPHA:586
1909	EDNRA	HP:0000750	Delayed speech and language development	-	OMIM:615777
1909	EDNRA	HP:0000716	Depression	HP:0040283	ORPHA:586
1909	EDNRA	HP:0011461	Fetal onset	7/7	OMIM:615777
1909	EDNRA	HP:0000774	Narrow chest	2/7	OMIM:615777
1909	EDNRA	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
1909	EDNRA	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
1909	EDNRA	HP:0000926	Platyspondyly	1/7	OMIM:615777
1909	EDNRA	HP:0003180	Flat acetabular roof	-	OMIM:615777
1909	EDNRA	HP:0004482	Relative macrocephaly	-	OMIM:615777
1909	EDNRA	HP:0004467	Preauricular pit	1/4	OMIM:616367
1909	EDNRA	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1909	EDNRA	HP:0000823	Delayed puberty	-	OMIM:131300
1909	EDNRA	HP:0000894	Short clavicles	-	OMIM:615777
1909	EDNRA	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
1909	EDNRA	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1909	EDNRA	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
1909	EDNRA	HP:0003251	Male infertility	HP:0040282	ORPHA:586
1909	EDNRA	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1909	EDNRA	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
1909	EDNRA	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
1909	EDNRA	HP:0000286	Epicanthus	1/7	OMIM:615777
1909	EDNRA	HP:0000280	Coarse facial features	2/7	OMIM:615777
1909	EDNRA	HP:0001596	Alopecia	4/4	OMIM:616367
1909	EDNRA	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
1909	EDNRA	HP:0002827	Hip dislocation	3/7	OMIM:615777
1909	EDNRA	HP:0000252	Microcephaly	-	OMIM:615777
1909	EDNRA	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
1909	EDNRA	HP:0000232	Everted lower lip vermilion	3/4	OMIM:616367
1909	EDNRA	HP:0002857	Genu valgum	-	OMIM:131300
1909	EDNRA	HP:0000211	Trismus	-	OMIM:616367
1909	EDNRA	HP:0001533	Slender build	-	OMIM:131300
1909	EDNRA	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
1909	EDNRA	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1909	EDNRA	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
1909	EDNRA	HP:0007807	Optic nerve compression	-	OMIM:131300
1909	EDNRA	HP:0000384	Preauricular skin tag	1/4	OMIM:616367
1909	EDNRA	HP:0012368	Flat face	7/7	OMIM:615777
1909	EDNRA	HP:0000378	Cupped ear	3/4	OMIM:616367
1909	EDNRA	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
1909	EDNRA	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1909	EDNRA	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
1909	EDNRA	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
1909	EDNRA	HP:0000365	Hearing impairment	10/67	OMIM:131300
1909	EDNRA	HP:0000369	Low-set ears	-	OMIM:616367
1909	EDNRA	HP:0000343	Long philtrum	1/7	OMIM:615777
1909	EDNRA	HP:0011001	Increased bone mineral density	-	OMIM:131300
1909	EDNRA	HP:0000347	Micrognathia	-	OMIM:616367
1909	EDNRA	HP:0001647	Bicuspid aortic valve	1/4	OMIM:616367
1909	EDNRA	HP:0000311	Round face	2/7	OMIM:615777
1909	EDNRA	HP:0000327	Hypoplasia of the maxilla	-	OMIM:616367
1909	EDNRA	HP:0000324	Facial asymmetry	-	OMIM:616367
1909	EDNRA	HP:0002970	Genu varum	-	OMIM:615777
1909	EDNRA	HP:0000303	Mandibular prognathia	-	OMIM:131300
1909	EDNRA	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
1909	EDNRA	HP:0005321	Mandibulofacial dysostosis	3/3	OMIM:616367
1909	EDNRA	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
1909	EDNRA	HP:0000405	Conductive hearing impairment	4/4	OMIM:616367
1909	EDNRA	HP:0000402	Stenosis of the external auditory canal	2/4	OMIM:616367
1909	EDNRA	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1909	EDNRA	HP:0000470	Short neck	1/7	OMIM:615777
1909	EDNRA	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1909	EDNRA	HP:0001763	Pes planus	1/7	OMIM:615777
1909	EDNRA	HP:0000411	Protruding ear	-	OMIM:616367
1909	EDNRA	HP:0000431	Wide nasal bridge	-	OMIM:616367
1909	EDNRA	HP:0001840	Metatarsus adductus	-	OMIM:615777
1909	EDNRA	HP:0000520	Proptosis	2/4	OMIM:131300
1909	EDNRA	HP:0000520	Proptosis	7/7	OMIM:615777
1909	EDNRA	HP:0000592	Blue sclerae	2/7	OMIM:615777
1909	EDNRA	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1909	EDNRA	HP:0012514	Lower limb pain	4/4	OMIM:131300
1910	EDNRB	HP:0001103	Abnormal macular morphology	HP:0040281	ORPHA:897
1910	EDNRB	HP:0002415	Leukodystrophy	-	OMIM:277580
1910	EDNRB	HP:0001100	Heterochromia iridis	HP:0040282	ORPHA:895
1910	EDNRB	HP:0001100	Heterochromia iridis	-	OMIM:277580
1910	EDNRB	HP:0100806	Sepsis	HP:0040283	ORPHA:388
1910	EDNRB	HP:0001271	Polyneuropathy	-	OMIM:277580
1910	EDNRB	HP:0001252	Hypotonia	-	OMIM:277580
1910	EDNRB	HP:0001251	Ataxia	-	OMIM:277580
1910	EDNRB	HP:0001263	Global developmental delay	-	OMIM:277580
1910	EDNRB	HP:0003811	Neonatal death	1/1	OMIM:600501
1910	EDNRB	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:895
1910	EDNRB	HP:0001341	Olfactory lobe agenesis	HP:0040282	ORPHA:897
1910	EDNRB	HP:0000007	Autosomal recessive inheritance	-	OMIM:277580
1910	EDNRB	HP:0000007	Autosomal recessive inheritance	-	OMIM:600501
1910	EDNRB	HP:0000006	Autosomal dominant inheritance	-	OMIM:600155
1910	EDNRB	HP:0000006	Autosomal dominant inheritance	-	OMIM:277580
1910	EDNRB	HP:0002019	Constipation	HP:0040281	ORPHA:388
1910	EDNRB	HP:0002019	Constipation	HP:0040281	ORPHA:897
1910	EDNRB	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:388
1910	EDNRB	HP:0002027	Abdominal pain	HP:0040281	ORPHA:388
1910	EDNRB	HP:0002027	Abdominal pain	HP:0040282	ORPHA:897
1910	EDNRB	HP:0002014	Diarrhea	HP:0040283	ORPHA:388
1910	EDNRB	HP:6000224	Delayed passage of meconium	HP:0040282	ORPHA:388
1910	EDNRB	HP:0003577	Congenital onset	-	OMIM:600155
1910	EDNRB	HP:0003577	Congenital onset	1/1	OMIM:600501
1910	EDNRB	HP:0002242	Abnormal intestine morphology	HP:0040281	ORPHA:897
1910	EDNRB	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:388
1910	EDNRB	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:897
1910	EDNRB	HP:0002251	Aganglionic megacolon	1/1	OMIM:600501
1910	EDNRB	HP:0002251	Aganglionic megacolon	-	OMIM:277580
1910	EDNRB	HP:0002251	Aganglionic megacolon	-	OMIM:600155
1910	EDNRB	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:895
1910	EDNRB	HP:0002216	Premature graying of hair	-	OMIM:277580
1910	EDNRB	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:897
1910	EDNRB	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:895
1910	EDNRB	HP:0002227	White eyelashes	1/1	OMIM:600501
1910	EDNRB	HP:0002227	White eyelashes	-	OMIM:277580
1910	EDNRB	HP:0002227	White eyelashes	HP:0040281	ORPHA:897
1910	EDNRB	HP:0002226	White eyebrow	1/1	OMIM:600501
1910	EDNRB	HP:0002226	White eyebrow	-	OMIM:277580
1910	EDNRB	HP:0002226	White eyebrow	HP:0040281	ORPHA:897
1910	EDNRB	HP:0002211	White forelock	HP:0040282	ORPHA:895
1910	EDNRB	HP:0002211	White forelock	-	OMIM:277580
1910	EDNRB	HP:0002211	White forelock	HP:0040281	ORPHA:897
1910	EDNRB	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:388
1910	EDNRB	HP:0001053	Hypopigmented skin patches	-	OMIM:277580
1910	EDNRB	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:895
1910	EDNRB	HP:0001022	Albinism	1/1	OMIM:600501
1910	EDNRB	HP:0002313	Spastic paraparesis	-	OMIM:277580
1910	EDNRB	HP:0034754	Bilious emesis	HP:0040282	ORPHA:388
1910	EDNRB	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:897
1910	EDNRB	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:895
1910	EDNRB	HP:0000639	Nystagmus	-	OMIM:277580
1910	EDNRB	HP:0000635	Blue irides	-	OMIM:277580
1910	EDNRB	HP:0001901	Polycythemia	1/1	OMIM:600501
1910	EDNRB	HP:0000664	Synophrys	HP:0040282	ORPHA:897
1910	EDNRB	HP:0004322	Short stature	HP:0040283	ORPHA:388
1910	EDNRB	HP:0006958	Abnormal auditory evoked potentials	1/1	OMIM:600501
1910	EDNRB	HP:0004387	Enterocolitis	HP:0040283	ORPHA:388
1910	EDNRB	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040281	ORPHA:388
1910	EDNRB	HP:0004414	Abnormality of the pulmonary artery	HP:0040283	ORPHA:895
1910	EDNRB	HP:0003270	Abdominal distention	HP:0040282	ORPHA:388
1910	EDNRB	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:897
1910	EDNRB	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:388
1910	EDNRB	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:388
1910	EDNRB	HP:0031369	Colon perforation	HP:0040283	ORPHA:388
1910	EDNRB	HP:0001520	Large for gestational age	1/1	OMIM:600501
1910	EDNRB	HP:0001510	Growth delay	HP:0040283	ORPHA:388
1910	EDNRB	HP:0005241	Total intestinal aganglionosis	1/1	OMIM:600501
1910	EDNRB	HP:0007894	Hypopigmentation of the fundus	-	OMIM:600501
1910	EDNRB	HP:0005214	Intestinal obstruction	HP:0040281	ORPHA:388
1910	EDNRB	HP:0005214	Intestinal obstruction	HP:0040281	ORPHA:897
1910	EDNRB	HP:0000365	Hearing impairment	HP:0040281	ORPHA:897
1910	EDNRB	HP:0000365	Hearing impairment	HP:0040281	ORPHA:895
1910	EDNRB	HP:0000365	Hearing impairment	1/1	OMIM:600501
1910	EDNRB	HP:0000366	Abnormality of the nose	HP:0040282	ORPHA:897
1910	EDNRB	HP:0000407	Sensorineural hearing impairment	-	OMIM:277580
1910	EDNRB	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:895
1910	EDNRB	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:897
1910	EDNRB	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:897
1910	EDNRB	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:897
1910	EDNRB	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:897
1910	EDNRB	HP:0001824	Weight loss	HP:0040282	ORPHA:388
1910	EDNRB	HP:0000506	Telecanthus	HP:0040283	ORPHA:897
1910	EDNRB	HP:0000506	Telecanthus	HP:0040283	ORPHA:895
1910	EDNRB	HP:0000508	Ptosis	HP:0040283	ORPHA:895
1910	EDNRB	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:897
1910	EDNRB	HP:0000534	Abnormal eyebrow morphology	HP:0040281	ORPHA:897
1911	PHC1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
1911	PHC1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
1911	PHC1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
1911	PHC1	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
1911	PHC1	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
1911	PHC1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
1911	PHC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615414
1911	PHC1	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
1911	PHC1	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
1911	PHC1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
1911	PHC1	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
1911	PHC1	HP:0004322	Short stature	2/2	OMIM:615414
1911	PHC1	HP:0004322	Short stature	HP:0040281	ORPHA:2512
1911	PHC1	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
1911	PHC1	HP:0000252	Microcephaly	2/2	OMIM:615414
1911	PHC1	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
1911	PHC1	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
1911	PHC1	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
1911	PHC1	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
1911	PHC1	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
1917	EEF1A2	HP:0010864	Intellectual disability, severe	2/2	OMIM:616393
1917	EEF1A2	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0003763	Bruxism	1/2	OMIM:616393
1917	EEF1A2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
1917	EEF1A2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
1917	EEF1A2	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0001250	Seizure	HP:0040282	ORPHA:442835
1917	EEF1A2	HP:0001250	Seizure	1/1	OMIM:616409
1917	EEF1A2	HP:0001252	Hypotonia	1/1	OMIM:616409
1917	EEF1A2	HP:0001251	Ataxia	1/2	OMIM:616393
1917	EEF1A2	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
1917	EEF1A2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
1917	EEF1A2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
1917	EEF1A2	HP:0001263	Global developmental delay	2/2	OMIM:616409
1917	EEF1A2	HP:0001263	Global developmental delay	2/2	OMIM:616393
1917	EEF1A2	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0002521	Hypsarrhythmia	1/1	OMIM:616409
1917	EEF1A2	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
1917	EEF1A2	HP:0001344	Absent speech	2/2	OMIM:616393
1917	EEF1A2	HP:0001344	Absent speech	1/1	OMIM:616409
1917	EEF1A2	HP:0001337	Tremor	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616409
1917	EEF1A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616393
1917	EEF1A2	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0001319	Neonatal hypotonia	1/1	OMIM:616409
1917	EEF1A2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0012167	Hair-pulling	1/2	OMIM:616393
1917	EEF1A2	HP:0008935	Generalized neonatal hypotonia	2/2	OMIM:616393
1917	EEF1A2	HP:0002714	Downturned corners of mouth	2/2	OMIM:616393
1917	EEF1A2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:616409
1917	EEF1A2	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0002059	Cerebral atrophy	2/2	OMIM:616393
1917	EEF1A2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
1917	EEF1A2	HP:0003593	Infantile onset	1/1	OMIM:616409
1917	EEF1A2	HP:0003577	Congenital onset	2/2	OMIM:616393
1917	EEF1A2	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0100716	Self-injurious behavior	1/2	OMIM:616393
1917	EEF1A2	HP:0200134	Epileptic encephalopathy	1/1	OMIM:616409
1917	EEF1A2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0002360	Sleep abnormality	2/2	OMIM:616393
1917	EEF1A2	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
1917	EEF1A2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0002317	Unsteady gait	1/1	OMIM:616409
1917	EEF1A2	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
1917	EEF1A2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0010818	Generalized tonic seizure	1/2	OMIM:616393
1917	EEF1A2	HP:0010804	Tented upper lip vermilion	2/2	OMIM:616393
1917	EEF1A2	HP:0003623	Neonatal onset	1/1	OMIM:616409
1917	EEF1A2	HP:0002311	Incoordination	1/1	OMIM:616409
1917	EEF1A2	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
1917	EEF1A2	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0004322	Short stature	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0011412	Ventouse delivery	1/2	OMIM:616393
1917	EEF1A2	HP:0000733	Motor stereotypy	1/2	OMIM:616393
1917	EEF1A2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
1917	EEF1A2	HP:0000750	Delayed speech and language development	1/1	OMIM:616409
1917	EEF1A2	HP:0000718	Aggressive behavior	2/2	OMIM:616393
1917	EEF1A2	HP:0000718	Aggressive behavior	1/1	OMIM:616409
1917	EEF1A2	HP:0000717	Autism	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0000729	Autistic behavior	1/1	OMIM:616409
1917	EEF1A2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
1917	EEF1A2	HP:0000286	Epicanthus	2/2	OMIM:616393
1917	EEF1A2	HP:0000293	Full cheeks	1/2	OMIM:616393
1917	EEF1A2	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0000252	Microcephaly	2/2	OMIM:616393
1917	EEF1A2	HP:0000218	High palate	1/2	OMIM:616393
1917	EEF1A2	HP:0000232	Everted lower lip vermilion	2/2	OMIM:616393
1917	EEF1A2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
1917	EEF1A2	HP:0011097	Epileptic spasm	1/1	OMIM:616409
1917	EEF1A2	HP:0000369	Low-set ears	1/2	OMIM:616393
1917	EEF1A2	HP:0000348	High forehead	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0032794	Myoclonic seizure	1/1	OMIM:616409
1917	EEF1A2	HP:0011147	Typical absence seizure	1/1	OMIM:616409
1917	EEF1A2	HP:0005280	Depressed nasal bridge	2/2	OMIM:616393
1917	EEF1A2	HP:0012469	Infantile spasms	1/2	OMIM:616393
1917	EEF1A2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:616393
1917	EEF1A2	HP:0000490	Deeply set eye	2/2	OMIM:616393
1917	EEF1A2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0001762	Talipes equinovarus	1/2	OMIM:616393
1917	EEF1A2	HP:0005484	Secondary microcephaly	1/1	OMIM:616409
1917	EEF1A2	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
1917	EEF1A2	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
1917	EEF1A2	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
1917	EEF1A2	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
1938	EEF2	HP:0001151	Impaired horizontal smooth pursuit	-	OMIM:609306
1938	EEF2	HP:0001151	Impaired horizontal smooth pursuit	HP:0040281	ORPHA:101112
1938	EEF2	HP:0007240	Progressive gait ataxia	HP:0040281	ORPHA:101112
1938	EEF2	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:101112
1938	EEF2	HP:0001272	Cerebellar atrophy	-	OMIM:609306
1938	EEF2	HP:0001250	Seizure	-	ORPHA:101112
1938	EEF2	HP:0001260	Dysarthria	HP:0040281	ORPHA:101112
1938	EEF2	HP:0001260	Dysarthria	-	OMIM:609306
1938	EEF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:609306
1938	EEF2	HP:0002066	Gait ataxia	-	OMIM:609306
1938	EEF2	HP:0002078	Truncal ataxia	-	OMIM:609306
1938	EEF2	HP:0002078	Truncal ataxia	HP:0040282	ORPHA:101112
1938	EEF2	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:101112
1938	EEF2	HP:0002070	Limb ataxia	-	OMIM:609306
1938	EEF2	HP:0002070	Limb ataxia	HP:0040281	ORPHA:101112
1938	EEF2	HP:0003474	Somatic sensory dysfunction	-	ORPHA:101112
1938	EEF2	HP:0003470	Paralysis	-	ORPHA:101112
1938	EEF2	HP:0003487	Babinski sign	HP:0040283	ORPHA:101112
1938	EEF2	HP:0003581	Adult onset	-	OMIM:609306
1938	EEF2	HP:0007034	Generalized hyperreflexia	HP:0040283	ORPHA:101112
1938	EEF2	HP:0002380	Fasciculations	-	ORPHA:101112
1938	EEF2	HP:0003677	Slowly progressive	-	OMIM:609306
1938	EEF2	HP:0002311	Incoordination	-	OMIM:609306
1938	EEF2	HP:0000639	Nystagmus	HP:0040282	ORPHA:101112
1938	EEF2	HP:0000639	Nystagmus	-	OMIM:609306
1938	EEF2	HP:0000641	Dysmetric saccades	-	OMIM:609306
1938	EEF2	HP:0000641	Dysmetric saccades	HP:0040282	ORPHA:101112
1947	EFNB1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0001156	Brachydactyly	1/5	OMIM:304110
1947	EFNB1	HP:0001161	Hand polydactyly	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1947	EFNB1	HP:0001293	Cranial nerve compression	-	OMIM:131300
1947	EFNB1	HP:0001290	Generalized hypotonia	-	OMIM:304110
1947	EFNB1	HP:0001274	Agenesis of corpus callosum	1/5	OMIM:304110
1947	EFNB1	HP:0001252	Hypotonia	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0001252	Hypotonia	-	OMIM:304110
1947	EFNB1	HP:0001252	Hypotonia	2/7	OMIM:615777
1947	EFNB1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0001249	Intellectual disability	0/5	OMIM:304110
1947	EFNB1	HP:0001249	Intellectual disability	5/7	OMIM:615777
1947	EFNB1	HP:0001263	Global developmental delay	-	OMIM:304110
1947	EFNB1	HP:0001263	Global developmental delay	-	OMIM:615777
1947	EFNB1	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0002515	Waddling gait	54/102	OMIM:131300
1947	EFNB1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0001382	Joint hypermobility	-	OMIM:304110
1947	EFNB1	HP:0001382	Joint hypermobility	-	OMIM:615777
1947	EFNB1	HP:0000047	Hypospadias	HP:0040283	ORPHA:1520
1947	EFNB1	HP:0000047	Hypospadias	-	OMIM:304110
1947	EFNB1	HP:0000049	Shawl scrotum	-	OMIM:304110
1947	EFNB1	HP:0000049	Shawl scrotum	HP:0040283	ORPHA:1520
1947	EFNB1	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:1520
1947	EFNB1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1947	EFNB1	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0000028	Cryptorchidism	-	OMIM:304110
1947	EFNB1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1947	EFNB1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1947	EFNB1	HP:0001324	Muscle weakness	40/96	OMIM:131300
1947	EFNB1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1947	EFNB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1947	EFNB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1947	EFNB1	HP:0002650	Scoliosis	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0002650	Scoliosis	1/5	OMIM:304110
1947	EFNB1	HP:0002650	Scoliosis	12/14	OMIM:131300
1947	EFNB1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1947	EFNB1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1947	EFNB1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1947	EFNB1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1947	EFNB1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0000164	Abnormality of the dentition	-	OMIM:304110
1947	EFNB1	HP:0000175	Cleft palate	-	OMIM:304110
1947	EFNB1	HP:0000175	Cleft palate	2/7	OMIM:615777
1947	EFNB1	HP:0001423	X-linked dominant inheritance	-	OMIM:304110
1947	EFNB1	HP:0002007	Frontal bossing	HP:0040281	ORPHA:1520
1947	EFNB1	HP:0002007	Frontal bossing	-	OMIM:304110
1947	EFNB1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1520
1947	EFNB1	HP:0002079	Hypoplasia of the corpus callosum	1/5	OMIM:304110
1947	EFNB1	HP:0003388	Easy fatigability	36/76	OMIM:131300
1947	EFNB1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1947	EFNB1	HP:0011939	3-4 finger cutaneous syndactyly	1/5	OMIM:304110
1947	EFNB1	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0002162	Low posterior hairline	-	OMIM:304110
1947	EFNB1	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0002224	Woolly hair	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0002212	Curly hair	1/5	OMIM:304110
1947	EFNB1	HP:0010719	Abnormality of hair texture	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0008402	Ridged fingernail	HP:0040281	ORPHA:1520
1947	EFNB1	HP:0003510	Severe short stature	7/7	OMIM:615777
1947	EFNB1	HP:0001060	Axillary pterygium	1/5	OMIM:304110
1947	EFNB1	HP:0002315	Headache	-	OMIM:131300
1947	EFNB1	HP:0004976	Knee dislocation	6/7	OMIM:615777
1947	EFNB1	HP:0200021	Down-sloping shoulders	-	OMIM:304110
1947	EFNB1	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0009803	Short phalanx of finger	-	OMIM:615777
1947	EFNB1	HP:0200053	Hemihypotrophy of lower limb	-	OMIM:304110
1947	EFNB1	HP:0009763	Limb pain	63/92	OMIM:131300
1947	EFNB1	HP:0003621	Juvenile onset	-	OMIM:131300
1947	EFNB1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1947	EFNB1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:304110
1947	EFNB1	HP:0010059	Broad hallux phalanx	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1947	EFNB1	HP:0000639	Nystagmus	-	OMIM:304110
1947	EFNB1	HP:6001056	Out-toeing	-	OMIM:131300
1947	EFNB1	HP:0000651	Diplopia	-	OMIM:131300
1947	EFNB1	HP:0001956	Truncal obesity	2/7	OMIM:615777
1947	EFNB1	HP:0001903	Anemia	HP:0040283	OMIM:131300
1947	EFNB1	HP:0010049	Short metacarpal	-	OMIM:615777
1947	EFNB1	HP:0010055	Broad hallux	-	OMIM:304110
1947	EFNB1	HP:0000678	Dental crowding	-	OMIM:615777
1947	EFNB1	HP:0000670	Carious teeth	-	OMIM:131300
1947	EFNB1	HP:0011304	Broad thumb	2/7	OMIM:615777
1947	EFNB1	HP:0000668	Hypodontia	-	OMIM:615777
1947	EFNB1	HP:0000664	Synophrys	-	OMIM:615777
1947	EFNB1	HP:0004322	Short stature	-	OMIM:304110
1947	EFNB1	HP:0004396	Poor appetite	-	OMIM:131300
1947	EFNB1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1947	EFNB1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1947	EFNB1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1947	EFNB1	HP:0003026	Short long bone	7/7	OMIM:615777
1947	EFNB1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1947	EFNB1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:1520
1947	EFNB1	HP:0000767	Pectus excavatum	-	OMIM:304110
1947	EFNB1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1947	EFNB1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1947	EFNB1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1947	EFNB1	HP:0000750	Delayed speech and language development	-	OMIM:615777
1947	EFNB1	HP:0011461	Fetal onset	7/7	OMIM:615777
1947	EFNB1	HP:0000774	Narrow chest	2/7	OMIM:615777
1947	EFNB1	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:1520
1947	EFNB1	HP:0000776	Congenital diaphragmatic hernia	-	OMIM:304110
1947	EFNB1	HP:0004440	Coronal craniosynostosis	-	OMIM:304110
1947	EFNB1	HP:0000912	Sprengel anomaly	1/5	OMIM:304110
1947	EFNB1	HP:0000912	Sprengel anomaly	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0000926	Platyspondyly	1/7	OMIM:615777
1947	EFNB1	HP:0003187	Breast hypoplasia	-	OMIM:304110
1947	EFNB1	HP:0003180	Flat acetabular roof	-	OMIM:615777
1947	EFNB1	HP:0004482	Relative macrocephaly	-	OMIM:615777
1947	EFNB1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1947	EFNB1	HP:0000889	Abnormal clavicle morphology	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0012813	Unilateral breast hypoplasia	1/5	OMIM:304110
1947	EFNB1	HP:0000823	Delayed puberty	-	OMIM:131300
1947	EFNB1	HP:0000894	Short clavicles	-	OMIM:615777
1947	EFNB1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1947	EFNB1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1947	EFNB1	HP:0000286	Epicanthus	1/7	OMIM:615777
1947	EFNB1	HP:0000280	Coarse facial features	2/7	OMIM:615777
1947	EFNB1	HP:0002827	Hip dislocation	3/7	OMIM:615777
1947	EFNB1	HP:0000252	Microcephaly	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0000252	Microcephaly	-	OMIM:615777
1947	EFNB1	HP:0000248	Brachycephaly	HP:0040281	ORPHA:1520
1947	EFNB1	HP:0000248	Brachycephaly	1/5	OMIM:304110
1947	EFNB1	HP:0001547	Abnormal rib cage morphology	-	OMIM:304110
1947	EFNB1	HP:0000218	High palate	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0002857	Genu valgum	-	OMIM:131300
1947	EFNB1	HP:0001537	Umbilical hernia	-	OMIM:304110
1947	EFNB1	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0001533	Slender build	-	OMIM:131300
1947	EFNB1	HP:0000204	Cleft upper lip	-	OMIM:304110
1947	EFNB1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1947	EFNB1	HP:0007807	Optic nerve compression	-	OMIM:131300
1947	EFNB1	HP:0012368	Flat face	7/7	OMIM:615777
1947	EFNB1	HP:0006585	Congenital pseudoarthrosis of the clavicle	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0006585	Congenital pseudoarthrosis of the clavicle	-	OMIM:304110
1947	EFNB1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1947	EFNB1	HP:0000365	Hearing impairment	10/67	OMIM:131300
1947	EFNB1	HP:0000343	Long philtrum	1/7	OMIM:615777
1947	EFNB1	HP:0011001	Increased bone mineral density	-	OMIM:131300
1947	EFNB1	HP:0000349	Widow's peak	-	OMIM:304110
1947	EFNB1	HP:0000349	Widow's peak	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1520
1947	EFNB1	HP:0000316	Hypertelorism	5/5	OMIM:304110
1947	EFNB1	HP:0000311	Round face	2/7	OMIM:615777
1947	EFNB1	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0000324	Facial asymmetry	3/5	OMIM:304110
1947	EFNB1	HP:0002970	Genu varum	-	OMIM:615777
1947	EFNB1	HP:0000303	Mandibular prognathia	-	OMIM:131300
1947	EFNB1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0005278	Hypoplastic nasal tip	-	OMIM:304110
1947	EFNB1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1947	EFNB1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0000494	Downslanted palpebral fissures	-	OMIM:304110
1947	EFNB1	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:1520
1947	EFNB1	HP:0000456	Bifid nasal tip	1/5	OMIM:304110
1947	EFNB1	HP:0000474	Thickened nuchal skin fold	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0000470	Short neck	-	OMIM:304110
1947	EFNB1	HP:0000470	Short neck	1/7	OMIM:615777
1947	EFNB1	HP:0000465	Webbed neck	1/5	OMIM:304110
1947	EFNB1	HP:0001770	Toe syndactyly	-	OMIM:304110
1947	EFNB1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1947	EFNB1	HP:0001763	Pes planus	1/7	OMIM:615777
1947	EFNB1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1520
1947	EFNB1	HP:0000431	Wide nasal bridge	1/5	OMIM:304110
1947	EFNB1	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040283	ORPHA:1520
1947	EFNB1	HP:0004122	Midline defect of the nose	HP:0040281	ORPHA:1520
1947	EFNB1	HP:0001840	Metatarsus adductus	-	OMIM:615777
1947	EFNB1	HP:0001852	Sandal gap	HP:0040282	ORPHA:1520
1947	EFNB1	HP:0000520	Proptosis	2/4	OMIM:131300
1947	EFNB1	HP:0000520	Proptosis	7/7	OMIM:615777
1947	EFNB1	HP:0000506	Telecanthus	-	OMIM:304110
1947	EFNB1	HP:0001809	Split nail	-	OMIM:304110
1947	EFNB1	HP:0001808	Fragile nails	-	OMIM:304110
1947	EFNB1	HP:0001807	Ridged nail	2/5	OMIM:304110
1947	EFNB1	HP:0000577	Exotropia	-	OMIM:304110
1947	EFNB1	HP:0000592	Blue sclerae	2/7	OMIM:615777
1947	EFNB1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1947	EFNB1	HP:0012514	Lower limb pain	4/4	OMIM:131300
1950	EGF	HP:0001250	Seizure	2/2	OMIM:611718
1950	EGF	HP:0001263	Global developmental delay	2/2	OMIM:611718
1950	EGF	HP:0000007	Autosomal recessive inheritance	-	OMIM:611718
1950	EGF	HP:0002342	Intellectual disability, moderate	2/2	OMIM:611718
1950	EGF	HP:0002917	Hypomagnesemia	2/2	OMIM:611718
1954	MEGF8	HP:0001156	Brachydactyly	HP:0040280	ORPHA:65759
1954	MEGF8	HP:0001156	Brachydactyly	-	OMIM:614976
1954	MEGF8	HP:0001162	Postaxial hand polydactyly	HP:0040282	ORPHA:65759
1954	MEGF8	HP:0001159	Syndactyly	HP:0040281	ORPHA:65759
1954	MEGF8	HP:0009933	Narrow naris	1/5	OMIM:614976
1954	MEGF8	HP:0009891	Underdeveloped supraorbital ridges	1/5	OMIM:614976
1954	MEGF8	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
1954	MEGF8	HP:0001293	Cranial nerve compression	-	OMIM:131300
1954	MEGF8	HP:0001252	Hypotonia	2/5	OMIM:614976
1954	MEGF8	HP:0001252	Hypotonia	2/7	OMIM:615777
1954	MEGF8	HP:0001249	Intellectual disability	HP:0040281	ORPHA:65759
1954	MEGF8	HP:0001249	Intellectual disability	5/7	OMIM:615777
1954	MEGF8	HP:0001263	Global developmental delay	1/5	OMIM:614976
1954	MEGF8	HP:0001263	Global developmental delay	-	OMIM:615777
1954	MEGF8	HP:0001234	Hitchhiker thumb	2/5	OMIM:614976
1954	MEGF8	HP:0002557	Hypoplastic nipples	1/5	OMIM:614976
1954	MEGF8	HP:0002558	Supernumerary nipple	-	OMIM:614976
1954	MEGF8	HP:0006101	Finger syndactyly	HP:0040280	ORPHA:65759
1954	MEGF8	HP:0008689	Bilateral cryptorchidism	2/5	OMIM:614976
1954	MEGF8	HP:0002553	Highly arched eyebrow	2/5	OMIM:614976
1954	MEGF8	HP:0002515	Waddling gait	54/102	OMIM:131300
1954	MEGF8	HP:0000098	Tall stature	HP:0040281	ORPHA:65759
1954	MEGF8	HP:0000054	Micropenis	1/4	OMIM:614976
1954	MEGF8	HP:0001382	Joint hypermobility	-	OMIM:615777
1954	MEGF8	HP:0000049	Shawl scrotum	1/5	OMIM:614976
1954	MEGF8	HP:0002676	Cloverleaf skull	HP:0040282	ORPHA:65759
1954	MEGF8	HP:0001363	Craniosynostosis	-	OMIM:614976
1954	MEGF8	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:65759
1954	MEGF8	HP:0002694	Sclerosis of skull base	-	OMIM:131300
1954	MEGF8	HP:0001357	Plagiocephaly	HP:0040281	ORPHA:65759
1954	MEGF8	HP:0000028	Cryptorchidism	2/4	OMIM:614976
1954	MEGF8	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:65759
1954	MEGF8	HP:0008897	Postnatal growth retardation	-	OMIM:615777
1954	MEGF8	HP:0006136	Bilateral postaxial polydactyly	1/5	OMIM:614976
1954	MEGF8	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
1954	MEGF8	HP:0001324	Muscle weakness	40/96	OMIM:131300
1954	MEGF8	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
1954	MEGF8	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
1954	MEGF8	HP:0000007	Autosomal recessive inheritance	-	OMIM:614976
1954	MEGF8	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
1954	MEGF8	HP:0002650	Scoliosis	12/14	OMIM:131300
1954	MEGF8	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
1954	MEGF8	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
1954	MEGF8	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
1954	MEGF8	HP:0000189	Narrow palate	2/5	OMIM:614976
1954	MEGF8	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
1954	MEGF8	HP:0000175	Cleft palate	2/7	OMIM:615777
1954	MEGF8	HP:0007651	Ectropion of lower eyelids	1/5	OMIM:614976
1954	MEGF8	HP:0002705	High, narrow palate	1/5	OMIM:614976
1954	MEGF8	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:65759
1954	MEGF8	HP:0002007	Frontal bossing	HP:0040283	OMIM:614976
1954	MEGF8	HP:0011800	Midface retrusion	2/5	OMIM:614976
1954	MEGF8	HP:0003388	Easy fatigability	36/76	OMIM:131300
1954	MEGF8	HP:0010442	Polydactyly	HP:0040281	ORPHA:65759
1954	MEGF8	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
1954	MEGF8	HP:0002121	Generalized non-motor (absence) seizure	1/5	OMIM:614976
1954	MEGF8	HP:0011927	Short digit	4/5	OMIM:614976
1954	MEGF8	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:65759
1954	MEGF8	HP:0010554	Cutaneous finger syndactyly	-	OMIM:614976
1954	MEGF8	HP:0003577	Congenital onset	5/5	OMIM:614976
1954	MEGF8	HP:0003510	Severe short stature	7/7	OMIM:615777
1954	MEGF8	HP:0002315	Headache	-	OMIM:131300
1954	MEGF8	HP:0004976	Knee dislocation	6/7	OMIM:615777
1954	MEGF8	HP:0009803	Short phalanx of finger	-	OMIM:615777
1954	MEGF8	HP:0009763	Limb pain	63/92	OMIM:131300
1954	MEGF8	HP:0003621	Juvenile onset	-	OMIM:131300
1954	MEGF8	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
1954	MEGF8	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:65759
1954	MEGF8	HP:0004209	Clinodactyly of the 5th finger	1/5	OMIM:614976
1954	MEGF8	HP:0004279	Short palm	HP:0040281	ORPHA:65759
1954	MEGF8	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
1954	MEGF8	HP:6001056	Out-toeing	-	OMIM:131300
1954	MEGF8	HP:0000651	Diplopia	-	OMIM:131300
1954	MEGF8	HP:0001956	Truncal obesity	2/7	OMIM:615777
1954	MEGF8	HP:0001903	Anemia	HP:0040283	OMIM:131300
1954	MEGF8	HP:0010049	Short metacarpal	-	OMIM:615777
1954	MEGF8	HP:0010044	Short 4th metacarpal	HP:0040283	ORPHA:65759
1954	MEGF8	HP:0000678	Dental crowding	-	OMIM:615777
1954	MEGF8	HP:0000689	Dental malocclusion	1/5	OMIM:614976
1954	MEGF8	HP:0000670	Carious teeth	-	OMIM:131300
1954	MEGF8	HP:0000670	Carious teeth	1/5	OMIM:614976
1954	MEGF8	HP:0011304	Broad thumb	2/7	OMIM:615777
1954	MEGF8	HP:0011304	Broad thumb	1/5	OMIM:614976
1954	MEGF8	HP:0011304	Broad thumb	HP:0040282	ORPHA:65759
1954	MEGF8	HP:0000668	Hypodontia	-	OMIM:615777
1954	MEGF8	HP:0000664	Synophrys	-	OMIM:615777
1954	MEGF8	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:65759
1954	MEGF8	HP:0004396	Poor appetite	-	OMIM:131300
1954	MEGF8	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
1954	MEGF8	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
1954	MEGF8	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
1954	MEGF8	HP:0003026	Short long bone	7/7	OMIM:615777
1954	MEGF8	HP:0031936	Delayed ability to walk	1/5	OMIM:614976
1954	MEGF8	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
1954	MEGF8	HP:0000767	Pectus excavatum	1/5	OMIM:614976
1954	MEGF8	HP:0000767	Pectus excavatum	2/7	OMIM:615777
1954	MEGF8	HP:0000768	Pectus carinatum	2/5	OMIM:614976
1954	MEGF8	HP:0000768	Pectus carinatum	1/7	OMIM:615777
1954	MEGF8	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
1954	MEGF8	HP:0000750	Delayed speech and language development	-	OMIM:615777
1954	MEGF8	HP:0011461	Fetal onset	7/7	OMIM:615777
1954	MEGF8	HP:0000774	Narrow chest	2/7	OMIM:615777
1954	MEGF8	HP:0009110	Diaphragmatic eventration	1/5	OMIM:614976
1954	MEGF8	HP:0000929	Abnormal skull morphology	HP:0040281	ORPHA:65759
1954	MEGF8	HP:0000926	Platyspondyly	1/7	OMIM:615777
1954	MEGF8	HP:0003180	Flat acetabular roof	-	OMIM:615777
1954	MEGF8	HP:0004482	Relative macrocephaly	-	OMIM:615777
1954	MEGF8	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
1954	MEGF8	HP:0000823	Delayed puberty	-	OMIM:131300
1954	MEGF8	HP:0010239	Aplasia of the middle phalanx of the hand	2/5	OMIM:614976
1954	MEGF8	HP:0000894	Short clavicles	-	OMIM:615777
1954	MEGF8	HP:0003241	External genital hypoplasia	HP:0040281	ORPHA:65759
1954	MEGF8	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
1954	MEGF8	HP:0045075	Sparse eyebrow	1/5	OMIM:614976
1954	MEGF8	HP:0100259	Postaxial polydactyly	HP:0040283	OMIM:614976
1954	MEGF8	HP:0100258	Preaxial polydactyly	3/5	OMIM:614976
1954	MEGF8	HP:0000973	Cutis laxa	2/5	OMIM:614976
1954	MEGF8	HP:0000954	Single transverse palmar crease	1/5	OMIM:614976
1954	MEGF8	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
1954	MEGF8	HP:0000286	Epicanthus	4/5	OMIM:614976
1954	MEGF8	HP:0000286	Epicanthus	HP:0040281	ORPHA:65759
1954	MEGF8	HP:0000286	Epicanthus	1/7	OMIM:615777
1954	MEGF8	HP:0000280	Coarse facial features	2/7	OMIM:615777
1954	MEGF8	HP:0000278	Retrognathia	HP:0040283	OMIM:614976
1954	MEGF8	HP:0000294	Low anterior hairline	1/5	OMIM:614976
1954	MEGF8	HP:0000263	Oxycephaly	HP:0040283	OMIM:614976
1954	MEGF8	HP:0000263	Oxycephaly	HP:0040281	ORPHA:65759
1954	MEGF8	HP:0000262	Turricephaly	HP:0040282	ORPHA:65759
1954	MEGF8	HP:0000256	Macrocephaly	HP:0040281	ORPHA:65759
1954	MEGF8	HP:0000275	Narrow face	HP:0040281	ORPHA:65759
1954	MEGF8	HP:0012243	Abnormal reproductive system morphology	HP:0040282	ORPHA:65759
1954	MEGF8	HP:0002812	Coxa vara	1/5	OMIM:614976
1954	MEGF8	HP:0002827	Hip dislocation	3/7	OMIM:615777
1954	MEGF8	HP:0006380	Knee flexion contracture	1/5	OMIM:614976
1954	MEGF8	HP:0000243	Trigonocephaly	2/10	OMIM:614976
1954	MEGF8	HP:0000252	Microcephaly	-	OMIM:615777
1954	MEGF8	HP:0000248	Brachycephaly	1/5	OMIM:614976
1954	MEGF8	HP:0000218	High palate	1/5	OMIM:614976
1954	MEGF8	HP:0002857	Genu valgum	-	OMIM:131300
1954	MEGF8	HP:0002857	Genu valgum	HP:0040282	ORPHA:65759
1954	MEGF8	HP:0001537	Umbilical hernia	1/5	OMIM:614976
1954	MEGF8	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:65759
1954	MEGF8	HP:0001533	Slender build	-	OMIM:131300
1954	MEGF8	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
1954	MEGF8	HP:0001513	Obesity	-	OMIM:614976
1954	MEGF8	HP:0001513	Obesity	HP:0040281	ORPHA:65759
1954	MEGF8	HP:0007807	Optic nerve compression	-	OMIM:131300
1954	MEGF8	HP:0012385	Camptodactyly	2/5	OMIM:614976
1954	MEGF8	HP:0012368	Flat face	7/7	OMIM:615777
1954	MEGF8	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
1954	MEGF8	HP:0005180	Tricuspid regurgitation	1/5	OMIM:614976
1954	MEGF8	HP:0001696	Situs inversus totalis	1/5	OMIM:614976
1954	MEGF8	HP:0000365	Hearing impairment	10/67	OMIM:131300
1954	MEGF8	HP:0000358	Posteriorly rotated ears	2/5	OMIM:614976
1954	MEGF8	HP:0000369	Low-set ears	3/5	OMIM:614976
1954	MEGF8	HP:0000343	Long philtrum	1/5	OMIM:614976
1954	MEGF8	HP:0000343	Long philtrum	1/7	OMIM:615777
1954	MEGF8	HP:0011001	Increased bone mineral density	-	OMIM:131300
1954	MEGF8	HP:0001669	Transposition of the great arteries	1/5	OMIM:614976
1954	MEGF8	HP:0001651	Dextrocardia	2/5	OMIM:614976
1954	MEGF8	HP:0000316	Hypertelorism	4/5	OMIM:614976
1954	MEGF8	HP:0000316	Hypertelorism	HP:0040281	ORPHA:65759
1954	MEGF8	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:65759
1954	MEGF8	HP:0001643	Patent ductus arteriosus	2/5	OMIM:614976
1954	MEGF8	HP:0000311	Round face	2/7	OMIM:615777
1954	MEGF8	HP:0002970	Genu varum	-	OMIM:615777
1954	MEGF8	HP:0001631	Atrial septal defect	1/5	OMIM:614976
1954	MEGF8	HP:0000303	Mandibular prognathia	-	OMIM:131300
1954	MEGF8	HP:0006610	Wide intermamillary distance	4/5	OMIM:614976
1954	MEGF8	HP:0000407	Sensorineural hearing impairment	1/5	OMIM:614976
1954	MEGF8	HP:0005280	Depressed nasal bridge	2/5	OMIM:614976
1954	MEGF8	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
1954	MEGF8	HP:0000486	Strabismus	HP:0040282	ORPHA:65759
1954	MEGF8	HP:0000481	Abnormal cornea morphology	HP:0040282	ORPHA:65759
1954	MEGF8	HP:0000463	Anteverted nares	2/5	OMIM:614976
1954	MEGF8	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:65759
1954	MEGF8	HP:0000475	Broad neck	1/5	OMIM:614976
1954	MEGF8	HP:0000470	Short neck	1/5	OMIM:614976
1954	MEGF8	HP:0000470	Short neck	1/7	OMIM:615777
1954	MEGF8	HP:0000465	Webbed neck	1/5	OMIM:614976
1954	MEGF8	HP:0001770	Toe syndactyly	HP:0040280	ORPHA:65759
1954	MEGF8	HP:0001769	Broad foot	HP:0040283	OMIM:615777
1954	MEGF8	HP:0001763	Pes planus	1/7	OMIM:615777
1954	MEGF8	HP:0000445	Wide nose	HP:0040282	ORPHA:65759
1954	MEGF8	HP:0001748	Polysplenia	HP:0040283	ORPHA:65759
1954	MEGF8	HP:0000411	Protruding ear	1/5	OMIM:614976
1954	MEGF8	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:65759
1954	MEGF8	HP:0001762	Talipes equinovarus	2/5	OMIM:614976
1954	MEGF8	HP:0000431	Wide nasal bridge	2/5	OMIM:614976
1954	MEGF8	HP:0005487	Prominent metopic ridge	HP:0040281	ORPHA:65759
1954	MEGF8	HP:0001841	Preaxial foot polydactyly	HP:0040282	ORPHA:65759
1954	MEGF8	HP:0001840	Metatarsus adductus	-	OMIM:615777
1954	MEGF8	HP:0000520	Proptosis	2/4	OMIM:131300
1954	MEGF8	HP:0000520	Proptosis	7/7	OMIM:615777
1954	MEGF8	HP:0000582	Upslanted palpebral fissure	4/10	OMIM:614976
1954	MEGF8	HP:0000579	Nasolacrimal duct obstruction	1/5	OMIM:614976
1954	MEGF8	HP:0000592	Blue sclerae	2/7	OMIM:615777
1954	MEGF8	HP:0000592	Blue sclerae	1/5	OMIM:614976
1954	MEGF8	HP:0011220	Prominent forehead	1/5	OMIM:614976
1954	MEGF8	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
1954	MEGF8	HP:0012514	Lower limb pain	4/4	OMIM:131300
1956	EGFR	HP:0003765	Psoriasiform dermatitis	HP:0040282	ORPHA:294023
1956	EGFR	HP:0000007	Autosomal recessive inheritance	-	OMIM:616069
1956	EGFR	HP:0000006	Autosomal dominant inheritance	-	OMIM:211980
1956	EGFR	HP:0031123	Recurrent gastroenteritis	HP:0040282	ORPHA:294023
1956	EGFR	HP:0410017	Otitis externa	HP:0040282	ORPHA:294023
1956	EGFR	HP:0001442	Typified by somatic mosaicism	-	OMIM:211980
1956	EGFR	HP:0002013	Vomiting	-	OMIM:616069
1956	EGFR	HP:0100501	Recurrent bronchiolitis	-	OMIM:616069
1956	EGFR	HP:0003577	Congenital onset	1/1	OMIM:616069
1956	EGFR	HP:0008396	Chronic monilial nail infection	HP:0040282	ORPHA:294023
1956	EGFR	HP:0025092	Epidermal acanthosis	1/1	OMIM:616069
1956	EGFR	HP:0200034	Papule	1/1	OMIM:616069
1956	EGFR	HP:0025085	Bloody diarrhea	HP:0040282	ORPHA:294023
1956	EGFR	HP:0200039	Pustule	1/1	OMIM:616069
1956	EGFR	HP:0200039	Pustule	HP:0040282	ORPHA:294023
1956	EGFR	HP:0010783	Erythema	HP:0040282	ORPHA:294023
1956	EGFR	HP:0001944	Dehydration	1/1	OMIM:616069
1956	EGFR	HP:0011354	Generalized abnormality of skin	HP:0040282	ORPHA:294023
1956	EGFR	HP:0100038	Slow-growing scalp hair	HP:0040282	ORPHA:294023
1956	EGFR	HP:0000822	Hypertension	1/1	OMIM:616069
1956	EGFR	HP:0003212	Increased circulating IgE concentration	1/1	OMIM:616069
1956	EGFR	HP:0040181	Chapped lip	HP:0040282	ORPHA:294023
1956	EGFR	HP:0040189	Scaling skin	HP:0040282	ORPHA:294023
1956	EGFR	HP:0030078	Lung adenocarcinoma	-	OMIM:211980
1956	EGFR	HP:0001561	Polyhydramnios	1/1	OMIM:616069
1956	EGFR	HP:0001508	Failure to thrive	1/1	OMIM:616069
1956	EGFR	HP:0012390	Anal fissure	HP:0040282	ORPHA:294023
1956	EGFR	HP:0005208	Secretory diarrhea	1/1	OMIM:616069
1956	EGFR	HP:0006532	Recurrent pneumonia	-	OMIM:616069
1956	EGFR	HP:0006519	Alveolar cell carcinoma	-	OMIM:211980
1956	EGFR	HP:0001680	Coarctation of aorta	1/1	OMIM:616069
1956	EGFR	HP:0000498	Blepharitis	HP:0040282	ORPHA:294023
1956	EGFR	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:294023
1956	EGFR	HP:0011131	Perianal dermatitis	HP:0040282	ORPHA:294023
1956	EGFR	HP:0005406	Recurrent bacterial skin infections	HP:0040282	ORPHA:294023
1956	EGFR	HP:0000527	Long eyelashes	-	OMIM:616069
1956	EGFR	HP:0001805	Onychogryphosis	HP:0040282	ORPHA:294023
1956	EGFR	HP:0030358	Non-small cell lung carcinoma	-	OMIM:211980
1956	EGFR	HP:0011228	Horizontal eyebrow	HP:0040282	ORPHA:294023
1959	EGR2	HP:0001178	Ulnar claw	-	OMIM:145900
1959	EGR2	HP:0001171	Split hand	-	OMIM:145900
1959	EGR2	HP:0002460	Distal muscle weakness	-	OMIM:145900
1959	EGR2	HP:0002460	Distal muscle weakness	3/3	OMIM:607678
1959	EGR2	HP:0002460	Distal muscle weakness	-	OMIM:605253
1959	EGR2	HP:0010871	Sensory ataxia	1/1	OMIM:145900
1959	EGR2	HP:0003701	Proximal muscle weakness	1/1	OMIM:145900
1959	EGR2	HP:0001291	Abnormal cranial nerve morphology	-	OMIM:605253
1959	EGR2	HP:0001270	Motor delay	-	OMIM:605253
1959	EGR2	HP:0001270	Motor delay	1/1	OMIM:145900
1959	EGR2	HP:0001284	Areflexia	1/1	OMIM:145900
1959	EGR2	HP:0001284	Areflexia	-	OMIM:605253
1959	EGR2	HP:0001252	Hypotonia	-	OMIM:145900
1959	EGR2	HP:0001265	Hyporeflexia	-	OMIM:145900
1959	EGR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:145900
1959	EGR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:605253
1959	EGR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:607678
1959	EGR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:145900
1959	EGR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:605253
1959	EGR2	HP:0001308	Tongue fasciculations	1/1	OMIM:145900
1959	EGR2	HP:0002650	Scoliosis	1/1	OMIM:145900
1959	EGR2	HP:0001319	Neonatal hypotonia	-	OMIM:605253
1959	EGR2	HP:0002751	Kyphoscoliosis	-	OMIM:145900
1959	EGR2	HP:0002093	Respiratory insufficiency	-	OMIM:605253
1959	EGR2	HP:0003376	Steppage gait	-	OMIM:607678
1959	EGR2	HP:0003376	Steppage gait	-	OMIM:145900
1959	EGR2	HP:0003383	Onion bulb formation	-	OMIM:605253
1959	EGR2	HP:0003383	Onion bulb formation	1/1	OMIM:145900
1959	EGR2	HP:0003382	Hypertrophic nerve changes	-	OMIM:145900
1959	EGR2	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:145900
1959	EGR2	HP:0003484	Upper limb muscle weakness	-	OMIM:607678
1959	EGR2	HP:0003484	Upper limb muscle weakness	-	OMIM:605253
1959	EGR2	HP:0003481	Segmental peripheral demyelination/remyelination	1/1	OMIM:145900
1959	EGR2	HP:0003448	Decreased sensory nerve conduction velocity	1/1	OMIM:145900
1959	EGR2	HP:0002136	Broad-based gait	1/1	OMIM:145900
1959	EGR2	HP:0003431	Decreased motor nerve conduction velocity	3/3	OMIM:607678
1959	EGR2	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:605253
1959	EGR2	HP:0003431	Decreased motor nerve conduction velocity	1/1	OMIM:145900
1959	EGR2	HP:0003593	Infantile onset	1/1	OMIM:145900
1959	EGR2	HP:0003577	Congenital onset	-	OMIM:605253
1959	EGR2	HP:0003693	Distal amyotrophy	-	OMIM:607678
1959	EGR2	HP:0003693	Distal amyotrophy	-	OMIM:605253
1959	EGR2	HP:0003693	Distal amyotrophy	-	OMIM:145900
1959	EGR2	HP:0009830	Peripheral neuropathy	3/3	OMIM:607678
1959	EGR2	HP:0009830	Peripheral neuropathy	-	OMIM:605253
1959	EGR2	HP:0003621	Juvenile onset	2/2	OMIM:607678
1959	EGR2	HP:0007182	Peripheral hypomyelination	-	OMIM:605253
1959	EGR2	HP:0006886	Impaired distal vibration sensation	1/1	OMIM:145900
1959	EGR2	HP:0000639	Nystagmus	HP:0040283	OMIM:145900
1959	EGR2	HP:0009053	Distal lower limb muscle weakness	1/1	OMIM:145900
1959	EGR2	HP:0009027	Foot dorsiflexor weakness	1/1	OMIM:607678
1959	EGR2	HP:0009027	Foot dorsiflexor weakness	-	OMIM:145900
1959	EGR2	HP:0011096	Peripheral demyelination	1/1	OMIM:145900
1959	EGR2	HP:0002936	Distal sensory impairment	-	OMIM:145900
1959	EGR2	HP:0002922	Increased CSF protein concentration	-	OMIM:145900
1959	EGR2	HP:0030175	Myelin tomacula	1/1	OMIM:145900
1959	EGR2	HP:0001763	Pes planus	1/1	OMIM:145900
1959	EGR2	HP:0001765	Hammertoe	-	OMIM:145900
1959	EGR2	HP:0001761	Pes cavus	-	OMIM:145900
1962	EHHADH	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:3337
1962	EHHADH	HP:0000083	Renal insufficiency	0/11	OMIM:615605
1962	EHHADH	HP:0002659	Increased susceptibility to fractures	HP:0040282	ORPHA:3337
1962	EHHADH	HP:0001324	Muscle weakness	HP:0040282	ORPHA:3337
1962	EHHADH	HP:0000006	Autosomal dominant inheritance	-	OMIM:615605
1962	EHHADH	HP:0002653	Bone pain	HP:0040282	ORPHA:3337
1962	EHHADH	HP:0000117	Renal phosphate wasting	HP:0040281	ORPHA:3337
1962	EHHADH	HP:0002748	Rickets	-	OMIM:615605
1962	EHHADH	HP:0002749	Osteomalacia	HP:0040282	ORPHA:3337
1962	EHHADH	HP:0003355	Aminoaciduria	-	OMIM:615605
1962	EHHADH	HP:0002049	Proximal renal tubular acidosis	HP:0040281	ORPHA:3337
1962	EHHADH	HP:0002150	Hypercalciuria	HP:0040283	ORPHA:3337
1962	EHHADH	HP:0002148	Hypophosphatemia	HP:0040282	ORPHA:3337
1962	EHHADH	HP:0003593	Infantile onset	-	OMIM:615605
1962	EHHADH	HP:0003537	Hypouricemia	HP:0040282	ORPHA:3337
1962	EHHADH	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:3337
1962	EHHADH	HP:0003646	Bicarbonaturia	HP:0040281	ORPHA:3337
1962	EHHADH	HP:0004918	Hyperchloremic metabolic acidosis	HP:0040281	ORPHA:3337
1962	EHHADH	HP:0004912	Hypophosphatemic rickets	HP:0040282	ORPHA:3337
1962	EHHADH	HP:0004910	Bicarbonate-wasting renal tubular acidosis	HP:0040281	ORPHA:3337
1962	EHHADH	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:3337
1962	EHHADH	HP:0012606	Renal sodium wasting	HP:0040282	ORPHA:3337
1962	EHHADH	HP:0001944	Dehydration	HP:0040283	ORPHA:3337
1962	EHHADH	HP:0001943	Hypoglycemia	HP:0040284	ORPHA:3337
1962	EHHADH	HP:0001942	Metabolic acidosis	-	OMIM:615605
1962	EHHADH	HP:0004322	Short stature	-	OMIM:615605
1962	EHHADH	HP:0003076	Glycosuria	-	OMIM:615605
1962	EHHADH	HP:0003076	Glycosuria	HP:0040281	ORPHA:3337
1962	EHHADH	HP:0003081	Increased urinary potassium	HP:0040282	ORPHA:3337
1962	EHHADH	HP:0003109	Hyperphosphaturia	-	OMIM:615605
1962	EHHADH	HP:0003126	Low-molecular-weight proteinuria	-	OMIM:615605
1962	EHHADH	HP:0003126	Low-molecular-weight proteinuria	HP:0040281	ORPHA:3337
1962	EHHADH	HP:0003149	Hyperuricosuria	HP:0040281	ORPHA:3337
1962	EHHADH	HP:0003234	Decreased circulating carnitine concentration	HP:0040282	ORPHA:3337
1962	EHHADH	HP:0003259	Elevated circulating creatinine concentration	0/11	OMIM:615605
1962	EHHADH	HP:0001510	Growth delay	-	OMIM:615605
1962	EHHADH	HP:0001510	Growth delay	HP:0040281	ORPHA:3337
1962	EHHADH	HP:0002909	Generalized aminoaciduria	HP:0040281	ORPHA:3337
1962	EHHADH	HP:0002900	Hypokalemia	HP:0040282	ORPHA:3337
1962	EHHADH	HP:0002979	Bowing of the legs	-	OMIM:615605
1962	EHHADH	HP:0032943	Abnormal urine pH	HP:0040281	ORPHA:3337
1962	EHHADH	HP:0001824	Weight loss	HP:0040282	ORPHA:3337
1967	EIF2B1	HP:0007305	CNS demyelination	-	OMIM:603896
1967	EIF2B1	HP:0001290	Generalized hypotonia	-	OMIM:603896
1967	EIF2B1	HP:0001288	Gait disturbance	-	OMIM:603896
1967	EIF2B1	HP:0001254	Lethargy	-	OMIM:603896
1967	EIF2B1	HP:0001250	Seizure	-	OMIM:603896
1967	EIF2B1	HP:0001252	Hypotonia	-	OMIM:603896
1967	EIF2B1	HP:0001260	Dysarthria	-	OMIM:603896
1967	EIF2B1	HP:0001257	Spasticity	-	OMIM:603896
1967	EIF2B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:603896
1967	EIF2B1	HP:0008193	Primary gonadal insufficiency	-	OMIM:603896
1967	EIF2B1	HP:0002171	Gliosis	-	OMIM:603896
1967	EIF2B1	HP:0008233	Decreased circulating progesterone	-	OMIM:603896
1967	EIF2B1	HP:0008209	Premature ovarian insufficiency	-	OMIM:603896
1967	EIF2B1	HP:0002376	Developmental regression	-	OMIM:603896
1967	EIF2B1	HP:0002354	Memory impairment	-	OMIM:603896
1967	EIF2B1	HP:0002352	Leukoencephalopathy	-	OMIM:603896
1967	EIF2B1	HP:0002317	Unsteady gait	-	OMIM:603896
1967	EIF2B1	HP:0003621	Juvenile onset	HP:0040282	OMIM:603896
1967	EIF2B1	HP:0006808	Cerebral hypomyelination	-	OMIM:603896
1967	EIF2B1	HP:0000648	Optic atrophy	-	OMIM:603896
1967	EIF2B1	HP:0000618	Blindness	HP:0040283	OMIM:603896
1967	EIF2B1	HP:0001945	Fever	-	OMIM:603896
1967	EIF2B1	HP:0000751	Personality changes	-	OMIM:603896
1967	EIF2B1	HP:0000746	Delusion	-	OMIM:603896
1967	EIF2B1	HP:0000712	Emotional lability	-	OMIM:603896
1967	EIF2B1	HP:0000786	Primary amenorrhea	-	OMIM:603896
1967	EIF2B1	HP:0004485	Cessation of head growth	-	OMIM:603896
1967	EIF2B1	HP:0000869	Secondary amenorrhea	-	OMIM:603896
1967	EIF2B1	HP:0000256	Macrocephaly	HP:0040282	OMIM:603896
1968	EIF2S3	HP:0001182	Tapered finger	HP:0040282	ORPHA:85282
1968	EIF2S3	HP:0002465	Poor speech	-	OMIM:300148
1968	EIF2S3	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:85282
1968	EIF2S3	HP:0001290	Generalized hypotonia	-	OMIM:300148
1968	EIF2S3	HP:0001276	Hypertonia	HP:0040282	ORPHA:85282
1968	EIF2S3	HP:0001288	Gait disturbance	-	OMIM:300148
1968	EIF2S3	HP:0001285	Spastic tetraparesis	-	OMIM:300148
1968	EIF2S3	HP:0001250	Seizure	HP:0040282	ORPHA:85282
1968	EIF2S3	HP:0001250	Seizure	7/12	OMIM:300148
1968	EIF2S3	HP:0001252	Hypotonia	HP:0040282	ORPHA:85282
1968	EIF2S3	HP:0001249	Intellectual disability	-	OMIM:300148
1968	EIF2S3	HP:0001263	Global developmental delay	10/10	OMIM:300148
1968	EIF2S3	HP:0001257	Spasticity	3/8	OMIM:300148
1968	EIF2S3	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:85282
1968	EIF2S3	HP:0002540	Inability to walk	-	OMIM:300148
1968	EIF2S3	HP:0003828	Variable expressivity	-	OMIM:300148
1968	EIF2S3	HP:0000054	Micropenis	HP:0040281	ORPHA:85282
1968	EIF2S3	HP:0000054	Micropenis	-	OMIM:300148
1968	EIF2S3	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:85282
1968	EIF2S3	HP:0001347	Hyperreflexia	2/6	OMIM:300148
1968	EIF2S3	HP:0000026	Male hypogonadism	9/11	OMIM:300148
1968	EIF2S3	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:85282
1968	EIF2S3	HP:0000194	Open mouth	-	OMIM:300148
1968	EIF2S3	HP:0000175	Cleft palate	-	OMIM:300148
1968	EIF2S3	HP:0410030	Cleft lip	-	OMIM:300148
1968	EIF2S3	HP:0008936	Axial hypotonia	3/7	OMIM:300148
1968	EIF2S3	HP:0001419	X-linked recessive inheritance	-	OMIM:300148
1968	EIF2S3	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:85282
1968	EIF2S3	HP:0002066	Gait ataxia	-	OMIM:300148
1968	EIF2S3	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:300148
1968	EIF2S3	HP:0003487	Babinski sign	-	OMIM:300148
1968	EIF2S3	HP:0002119	Ventriculomegaly	-	OMIM:300148
1968	EIF2S3	HP:0003561	Birth length less than 3rd percentile	5/7	OMIM:300148
1968	EIF2S3	HP:0009748	Large earlobe	HP:0040281	ORPHA:85282
1968	EIF2S3	HP:0002353	EEG abnormality	HP:0040281	ORPHA:85282
1968	EIF2S3	HP:0002307	Drooling	-	OMIM:300148
1968	EIF2S3	HP:0000639	Nystagmus	HP:0040282	ORPHA:85282
1968	EIF2S3	HP:0001943	Hypoglycemia	-	OMIM:300148
1968	EIF2S3	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:85282
1968	EIF2S3	HP:0000687	Widely spaced teeth	-	OMIM:300148
1968	EIF2S3	HP:0400000	Tall chin	-	OMIM:300148
1968	EIF2S3	HP:0000750	Delayed speech and language development	-	OMIM:300148
1968	EIF2S3	HP:0000718	Aggressive behavior	-	OMIM:300148
1968	EIF2S3	HP:0000713	Agitation	HP:0040282	ORPHA:85282
1968	EIF2S3	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:85282
1968	EIF2S3	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:300148
1968	EIF2S3	HP:0000823	Delayed puberty	-	OMIM:300148
1968	EIF2S3	HP:0003241	External genital hypoplasia	HP:0040281	ORPHA:85282
1968	EIF2S3	HP:0000293	Full cheeks	HP:0040282	ORPHA:85282
1968	EIF2S3	HP:0000276	Long face	-	OMIM:300148
1968	EIF2S3	HP:0000252	Microcephaly	HP:0040281	ORPHA:85282
1968	EIF2S3	HP:0000252	Microcephaly	9/9	OMIM:300148
1968	EIF2S3	HP:0001518	Small for gestational age	6/9	OMIM:300148
1968	EIF2S3	HP:0001510	Growth delay	HP:0040281	ORPHA:85282
1968	EIF2S3	HP:0001513	Obesity	HP:0040281	ORPHA:85282
1968	EIF2S3	HP:0001513	Obesity	8/10	OMIM:300148
1968	EIF2S3	HP:0000340	Sloping forehead	HP:0040281	ORPHA:85282
1968	EIF2S3	HP:0000343	Long philtrum	-	OMIM:300148
1968	EIF2S3	HP:0000311	Round face	HP:0040281	ORPHA:85282
1968	EIF2S3	HP:0000400	Macrotia	-	OMIM:300148
1968	EIF2S3	HP:0000486	Strabismus	-	OMIM:300148
1968	EIF2S3	HP:0012471	Thick vermilion border	HP:0040281	ORPHA:85282
1968	EIF2S3	HP:0000455	Broad nasal tip	-	OMIM:300148
1968	EIF2S3	HP:0000437	Depressed nasal tip	-	OMIM:300148
1968	EIF2S3	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:85282
1968	EIF2S3	HP:0000545	Myopia	-	OMIM:300148
1969	EPHA2	HP:0001139	Choroideremia	-	OMIM:116600
1969	EPHA2	HP:0001115	Posterior polar cataract	12/12	OMIM:116600
1969	EPHA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:116600
1969	EPHA2	HP:0000519	Developmental cataract	-	OMIM:116600
1969	EPHA2	HP:0000545	Myopia	-	OMIM:116600
1974	EIF4A2	HP:0007270	Atypical absence seizure	1/1	OMIM:620455
1974	EIF4A2	HP:0010862	Delayed fine motor development	11/11	OMIM:620455
1974	EIF4A2	HP:0010864	Intellectual disability, severe	4/4	OMIM:620455
1974	EIF4A2	HP:0008551	Microtia	1/1	OMIM:620455
1974	EIF4A2	HP:0001276	Hypertonia	2/2	OMIM:620455
1974	EIF4A2	HP:0001285	Spastic tetraparesis	1/1	OMIM:620455
1974	EIF4A2	HP:0001256	Intellectual disability, mild	2/2	OMIM:620455
1974	EIF4A2	HP:0001250	Seizure	3/3	OMIM:620455
1974	EIF4A2	HP:0001252	Hypotonia	14/14	OMIM:620455
1974	EIF4A2	HP:0001249	Intellectual disability	2/2	OMIM:620455
1974	EIF4A2	HP:0001263	Global developmental delay	6/6	OMIM:620455
1974	EIF4A2	HP:0001257	Spasticity	1/1	OMIM:620455
1974	EIF4A2	HP:0007359	Focal-onset seizure	1/1	OMIM:620455
1974	EIF4A2	HP:0000041	Chordee	1/1	OMIM:620455
1974	EIF4A2	HP:0001357	Plagiocephaly	2/2	OMIM:620455
1974	EIF4A2	HP:0033725	Thin corpus callosum	4/4	OMIM:620455
1974	EIF4A2	HP:0001344	Absent speech	8/8	OMIM:620455
1974	EIF4A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620455
1974	EIF4A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:620455
1974	EIF4A2	HP:0001320	Cerebellar vermis hypoplasia	3/3	OMIM:620455
1974	EIF4A2	HP:0012168	Head-banging	1/1	OMIM:620455
1974	EIF4A2	HP:0000160	Narrow mouth	1/1	OMIM:620455
1974	EIF4A2	HP:0012110	Hypoplasia of the pons	4/4	OMIM:620455
1974	EIF4A2	HP:0002791	Hypoventilation	4/4	OMIM:620455
1974	EIF4A2	HP:0002019	Constipation	4/4	OMIM:620455
1974	EIF4A2	HP:0002033	Poor suck	1/1	OMIM:620455
1974	EIF4A2	HP:0002015	Dysphagia	5/5	OMIM:620455
1974	EIF4A2	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:620455
1974	EIF4A2	HP:0002121	Generalized non-motor (absence) seizure	1/1	OMIM:620455
1974	EIF4A2	HP:0002119	Ventriculomegaly	2/2	OMIM:620455
1974	EIF4A2	HP:0002180	Neurodegeneration	2/2	OMIM:620455
1974	EIF4A2	HP:0002194	Delayed gross motor development	13/13	OMIM:620455
1974	EIF4A2	HP:0002171	Gliosis	1/1	OMIM:620455
1974	EIF4A2	HP:0003593	Infantile onset	15/15	OMIM:620455
1974	EIF4A2	HP:0100704	Cerebral visual impairment	2/2	OMIM:620455
1974	EIF4A2	HP:0100702	Arachnoid cyst	1/1	OMIM:620455
1974	EIF4A2	HP:0100710	Impulsivity	1/1	OMIM:620455
1974	EIF4A2	HP:0002280	Enlarged cisterna magna	1/1	OMIM:620455
1974	EIF4A2	HP:0007018	Attention deficit hyperactivity disorder	1/1	OMIM:620455
1974	EIF4A2	HP:0011968	Feeding difficulties	3/3	OMIM:620455
1974	EIF4A2	HP:0001007	Hirsutism	1/1	OMIM:620455
1974	EIF4A2	HP:0010821	Focal emotional seizure with laughing	1/1	OMIM:620455
1974	EIF4A2	HP:0200012	Short corpus callosum	1/1	OMIM:620455
1974	EIF4A2	HP:0200055	Small hand	1/1	OMIM:620455
1974	EIF4A2	HP:0033454	Tube feeding	8/8	OMIM:620455
1974	EIF4A2	HP:5200310	Diminishment of social interactions	1/1	OMIM:620455
1974	EIF4A2	HP:0000637	Long palpebral fissure	1/1	OMIM:620455
1974	EIF4A2	HP:0000618	Blindness	2/2	OMIM:620455
1974	EIF4A2	HP:0000609	Optic nerve hypoplasia	1/1	OMIM:620455
1974	EIF4A2	HP:0011344	Severe global developmental delay	3/3	OMIM:620455
1974	EIF4A2	HP:0011342	Mild global developmental delay	1/1	OMIM:620455
1974	EIF4A2	HP:0000664	Synophrys	1/1	OMIM:620455
1974	EIF4A2	HP:0004322	Short stature	1/1	OMIM:620455
1974	EIF4A2	HP:0000750	Delayed speech and language development	6/6	OMIM:620455
1974	EIF4A2	HP:0000717	Autism	3/3	OMIM:620455
1974	EIF4A2	HP:0004442	Sagittal craniosynostosis	1/1	OMIM:620455
1974	EIF4A2	HP:0003186	Inverted nipples	1/1	OMIM:620455
1974	EIF4A2	HP:0004482	Relative macrocephaly	1/1	OMIM:620455
1974	EIF4A2	HP:0040019	Finger clinodactyly	1/1	OMIM:620455
1974	EIF4A2	HP:0000286	Epicanthus	2/2	OMIM:620455
1974	EIF4A2	HP:0000256	Macrocephaly	1/1	OMIM:620455
1974	EIF4A2	HP:0000252	Microcephaly	2/2	OMIM:620455
1974	EIF4A2	HP:0001508	Failure to thrive	4/4	OMIM:620455
1974	EIF4A2	HP:0011097	Epileptic spasm	1/1	OMIM:620455
1974	EIF4A2	HP:0000365	Hearing impairment	2/2	OMIM:620455
1974	EIF4A2	HP:0001684	Secundum atrial septal defect	1/1	OMIM:620455
1974	EIF4A2	HP:0000347	Micrognathia	1/1	OMIM:620455
1974	EIF4A2	HP:0032794	Myoclonic seizure	2/2	OMIM:620455
1974	EIF4A2	HP:0001643	Patent ductus arteriosus	1/1	OMIM:620455
1974	EIF4A2	HP:0000322	Short philtrum	1/1	OMIM:620455
1974	EIF4A2	HP:0012469	Infantile spasms	2/2	OMIM:620455
1974	EIF4A2	HP:0000463	Anteverted nares	1/1	OMIM:620455
1974	EIF4A2	HP:0001741	Phimosis	1/1	OMIM:620455
1974	EIF4A2	HP:0000431	Wide nasal bridge	1/1	OMIM:620455
1974	EIF4A2	HP:0000505	Visual impairment	1/1	OMIM:620455
1974	EIF4A2	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:620455
1974	EIF4A2	HP:0000577	Exotropia	1/1	OMIM:620455
1981	EIF4G1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	HP:0040282	ORPHA:411602
1981	EIF4G1	HP:0001332	Dystonia	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614251
1981	EIF4G1	HP:0001300	Parkinsonism	HP:0040280	ORPHA:411602
1981	EIF4G1	HP:0001300	Parkinsonism	-	OMIM:614251
1981	EIF4G1	HP:0002015	Dysphagia	HP:0040282	ORPHA:411602
1981	EIF4G1	HP:0002067	Bradykinesia	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0002067	Bradykinesia	-	OMIM:614251
1981	EIF4G1	HP:0003394	Muscle spasm	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0002063	Rigidity	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0002063	Rigidity	-	OMIM:614251
1981	EIF4G1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0002171	Gliosis	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0002172	Postural instability	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0003596	Middle age onset	-	OMIM:614251
1981	EIF4G1	HP:0003587	Insidious onset	-	OMIM:614251
1981	EIF4G1	HP:0003584	Late onset	-	OMIM:614251
1981	EIF4G1	HP:0100710	Impulsivity	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0100753	Schizophrenia	HP:0040284	ORPHA:411602
1981	EIF4G1	HP:0002367	Visual hallucination	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0002362	Shuffling gait	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0002359	Frequent falls	HP:0040282	ORPHA:411602
1981	EIF4G1	HP:0002322	Resting tremor	HP:0040282	ORPHA:411602
1981	EIF4G1	HP:0002322	Resting tremor	-	OMIM:614251
1981	EIF4G1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0002304	Akinesia	HP:0040282	ORPHA:411602
1981	EIF4G1	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0000651	Diplopia	HP:0040282	ORPHA:411602
1981	EIF4G1	HP:0000744	Low frustration tolerance	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0000741	Apathy	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0000716	Depression	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0000713	Agitation	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0000726	Dementia	HP:0040284	ORPHA:411602
1981	EIF4G1	HP:0004409	Hyposmia	HP:0040282	ORPHA:411602
1981	EIF4G1	HP:0100315	Lewy bodies	-	OMIM:614251
1981	EIF4G1	HP:0100315	Lewy bodies	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0031435	Monotonic speech	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0000338	Hypomimic face	HP:0040283	ORPHA:411602
1981	EIF4G1	HP:0005340	Spastic/hyperactive bladder	HP:0040282	ORPHA:411602
1981	EIF4G1	HP:0012450	Chronic constipation	HP:0040282	ORPHA:411602
1981	EIF4G1	HP:0001824	Weight loss	HP:0040283	ORPHA:411602
1984	EIF5A	HP:0008551	Microtia	1/7	OMIM:619376
1984	EIF5A	HP:0001252	Hypotonia	1/7	OMIM:619376
1984	EIF5A	HP:0001382	Joint hypermobility	3/6	OMIM:619376
1984	EIF5A	HP:0001357	Plagiocephaly	1/7	OMIM:619376
1984	EIF5A	HP:0000028	Cryptorchidism	1/3	OMIM:619376
1984	EIF5A	HP:0008872	Feeding difficulties in infancy	4/7	OMIM:619376
1984	EIF5A	HP:0000006	Autosomal dominant inheritance	-	OMIM:619376
1984	EIF5A	HP:0001319	Neonatal hypotonia	2/7	OMIM:619376
1984	EIF5A	HP:0000175	Cleft palate	1/7	OMIM:619376
1984	EIF5A	HP:0002020	Gastroesophageal reflux	1/7	OMIM:619376
1984	EIF5A	HP:0002015	Dysphagia	1/7	OMIM:619376
1984	EIF5A	HP:0002007	Frontal bossing	1/7	OMIM:619376
1984	EIF5A	HP:0003577	Congenital onset	4/7	OMIM:619376
1984	EIF5A	HP:0002209	Sparse scalp hair	1/7	OMIM:619376
1984	EIF5A	HP:0008439	Lumbar hemivertebrae	1/7	OMIM:619376
1984	EIF5A	HP:0000637	Long palpebral fissure	1/7	OMIM:619376
1984	EIF5A	HP:0030674	Antenatal onset	3/7	OMIM:619376
1984	EIF5A	HP:0400004	Long ear	1/7	OMIM:619376
1984	EIF5A	HP:0000729	Autistic behavior	1/7	OMIM:619376
1984	EIF5A	HP:0011451	Primary microcephaly	3/5	OMIM:619376
1984	EIF5A	HP:0000823	Delayed puberty	1/7	OMIM:619376
1984	EIF5A	HP:0005830	Flexion contracture of toe	1/7	OMIM:619376
1984	EIF5A	HP:0010314	Premature thelarche	1/4	OMIM:619376
1984	EIF5A	HP:0000286	Epicanthus	5/7	OMIM:619376
1984	EIF5A	HP:0007697	Hypoplasia of the lower eyelids	1/7	OMIM:619376
1984	EIF5A	HP:0000219	Thin upper lip vermilion	4/7	OMIM:619376
1984	EIF5A	HP:0001508	Failure to thrive	1/7	OMIM:619376
1984	EIF5A	HP:0001511	Intrauterine growth retardation	3/7	OMIM:619376
1984	EIF5A	HP:0000378	Cupped ear	1/7	OMIM:619376
1984	EIF5A	HP:0000369	Low-set ears	3/7	OMIM:619376
1984	EIF5A	HP:0000347	Micrognathia	5/7	OMIM:619376
1984	EIF5A	HP:0000316	Hypertelorism	1/7	OMIM:619376
1984	EIF5A	HP:0000405	Conductive hearing impairment	1/7	OMIM:619376
1984	EIF5A	HP:0000494	Downslanted palpebral fissures	1/7	OMIM:619376
1984	EIF5A	HP:0000490	Deeply set eye	1/7	OMIM:619376
1984	EIF5A	HP:0001791	Fetal ascites	1/7	OMIM:619376
1984	EIF5A	HP:0012450	Chronic constipation	2/7	OMIM:619376
1984	EIF5A	HP:0001763	Pes planus	3/7	OMIM:619376
1984	EIF5A	HP:0000414	Bulbous nose	4/7	OMIM:619376
1984	EIF5A	HP:0000430	Underdeveloped nasal alae	1/7	OMIM:619376
1984	EIF5A	HP:0001800	Hypoplastic toenails	1/7	OMIM:619376
1984	EIF5A	HP:0011229	Broad eyebrow	5/7	OMIM:619376
1991	ELANE	HP:0100806	Sepsis	HP:0040284	ORPHA:2686
1991	ELANE	HP:0002586	Peritonitis	HP:0040284	ORPHA:2686
1991	ELANE	HP:0025289	Cervical lymphadenopathy	HP:0040282	ORPHA:2686
1991	ELANE	HP:0032323	Periodic fever	HP:0040282	ORPHA:2686
1991	ELANE	HP:0033834	Malaise	-	OMIM:162800
1991	ELANE	HP:0000006	Autosomal dominant inheritance	-	OMIM:162800
1991	ELANE	HP:0000006	Autosomal dominant inheritance	-	OMIM:202700
1991	ELANE	HP:0002653	Bone pain	HP:0040281	ORPHA:2686
1991	ELANE	HP:0025452	Pyoderma gangrenosum	HP:0040283	ORPHA:486
1991	ELANE	HP:0025439	Pharyngitis	HP:0040282	ORPHA:486
1991	ELANE	HP:0025439	Pharyngitis	HP:0040282	ORPHA:2686
1991	ELANE	HP:0000155	Oral ulcer	-	OMIM:162800
1991	ELANE	HP:0000155	Oral ulcer	HP:0040282	ORPHA:2686
1991	ELANE	HP:0000155	Oral ulcer	HP:0040282	ORPHA:486
1991	ELANE	HP:0006357	Premature loss of permanent teeth	HP:0040283	ORPHA:2686
1991	ELANE	HP:0006308	Atrophy of alveolar ridges	HP:0040283	ORPHA:2686
1991	ELANE	HP:0410018	Recurrent ear infections	HP:0040282	ORPHA:486
1991	ELANE	HP:0002718	Recurrent bacterial infections	-	OMIM:202700
1991	ELANE	HP:0002718	Recurrent bacterial infections	HP:0040281	ORPHA:486
1991	ELANE	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:2686
1991	ELANE	HP:0002027	Abdominal pain	HP:0040282	ORPHA:486
1991	ELANE	HP:0002027	Abdominal pain	HP:0040283	ORPHA:2686
1991	ELANE	HP:0002014	Diarrhea	HP:0040282	ORPHA:486
1991	ELANE	HP:0002090	Pneumonia	HP:0040282	ORPHA:486
1991	ELANE	HP:0040289	Cyclically decreased total neutrophil count	-	OMIM:162800
1991	ELANE	HP:0040289	Cyclically decreased total neutrophil count	HP:0040281	ORPHA:2686
1991	ELANE	HP:0003453	Antineutrophil antibody positivity	HP:0040283	ORPHA:486
1991	ELANE	HP:0004798	Recurrent infection of the gastrointestinal tract	HP:0040282	ORPHA:486
1991	ELANE	HP:0003593	Infantile onset	-	OMIM:202700
1991	ELANE	HP:0010702	Increased circulating immunoglobulin concentration	-	OMIM:202700
1991	ELANE	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:2686
1991	ELANE	HP:0004845	Acute monocytic leukemia	-	OMIM:202700
1991	ELANE	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:486
1991	ELANE	HP:0001028	Hemangioma	HP:0040283	ORPHA:486
1991	ELANE	HP:0002315	Headache	HP:0040281	ORPHA:2686
1991	ELANE	HP:0100658	Cellulitis	HP:0040283	ORPHA:2686
1991	ELANE	HP:0100658	Cellulitis	HP:0040283	ORPHA:486
1991	ELANE	HP:0009789	Perianal abscess	HP:0040283	ORPHA:2686
1991	ELANE	HP:0032169	Severe infection	HP:0040284	ORPHA:2686
1991	ELANE	HP:0005541	Congenital agranulocytosis	-	OMIM:202700
1991	ELANE	HP:0031864	Bacteremia	HP:0040284	ORPHA:2686
1991	ELANE	HP:0031891	Decreased total eosinophil count	HP:0040283	ORPHA:2686
1991	ELANE	HP:0001945	Fever	-	OMIM:162800
1991	ELANE	HP:0001945	Fever	HP:0040282	ORPHA:486
1991	ELANE	HP:0001954	Recurrent fever	HP:0040282	ORPHA:2686
1991	ELANE	HP:0001909	Leukemia	HP:0040283	ORPHA:486
1991	ELANE	HP:0001903	Anemia	-	OMIM:202700
1991	ELANE	HP:0001915	Aplastic anemia	HP:0040283	ORPHA:486
1991	ELANE	HP:0004387	Enterocolitis	HP:0040284	ORPHA:2686
1991	ELANE	HP:0000704	Periodontitis	HP:0040282	ORPHA:486
1991	ELANE	HP:0000704	Periodontitis	HP:0040283	ORPHA:2686
1991	ELANE	HP:0030757	Tooth abscess	HP:0040282	ORPHA:2686
1991	ELANE	HP:0004429	Recurrent viral infections	HP:0040281	ORPHA:486
1991	ELANE	HP:0000938	Osteopenia	HP:0040283	ORPHA:486
1991	ELANE	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:2686
1991	ELANE	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:486
1991	ELANE	HP:0000246	Sinusitis	HP:0040281	ORPHA:2686
1991	ELANE	HP:0000230	Gingivitis	HP:0040282	ORPHA:486
1991	ELANE	HP:0000230	Gingivitis	HP:0040282	ORPHA:2686
1991	ELANE	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:486
1991	ELANE	HP:0001507	Growth abnormality	-	OMIM:202700
1991	ELANE	HP:0012378	Fatigue	HP:0040282	ORPHA:2686
1991	ELANE	HP:0012384	Rhinitis	HP:0040282	ORPHA:486
1991	ELANE	HP:0000388	Otitis media	HP:0040283	ORPHA:2686
1991	ELANE	HP:0006480	Premature loss of teeth	HP:0040283	ORPHA:486
1991	ELANE	HP:0012311	Increased total monocyte count	HP:0040282	ORPHA:486
1991	ELANE	HP:0012311	Increased total monocyte count	-	OMIM:202700
1991	ELANE	HP:0011107	Recurrent aphthous stomatitis	HP:0040282	ORPHA:486
1991	ELANE	HP:0011110	Recurrent tonsillitis	HP:0040282	ORPHA:2686
1991	ELANE	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:486
1991	ELANE	HP:0006721	Acute lymphoblastic leukemia	HP:0040283	ORPHA:486
1991	ELANE	HP:0031690	Opportunistic infection	HP:0040283	ORPHA:2686
1991	ELANE	HP:0001894	Thrombocytosis	-	OMIM:202700
1991	ELANE	HP:0001888	Decreased total lymphocyte count	HP:0040283	ORPHA:2686
1991	ELANE	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:486
1991	ELANE	HP:0001880	Increased total eosinophil count	HP:0040283	ORPHA:486
1991	ELANE	HP:0001880	Increased total eosinophil count	-	OMIM:202700
1991	ELANE	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:2686
1991	ELANE	HP:0001875	Decreased total neutrophil count	-	OMIM:202700
1991	ELANE	HP:0001875	Decreased total neutrophil count	HP:0040280	ORPHA:486
2000	ELF4	HP:0100827	Increased total lymphocyte count	1/3	OMIM:301074
2000	ELF4	HP:0002583	Colitis	1/3	OMIM:301074
2000	ELF4	HP:0001369	Arthritis	1/1	OMIM:301074
2000	ELF4	HP:0000155	Oral ulcer	4/4	OMIM:301074
2000	ELF4	HP:0001419	X-linked recessive inheritance	-	OMIM:301074
2000	ELF4	HP:0002037	Inflammation of the large intestine	1/3	OMIM:301074
2000	ELF4	HP:0002027	Abdominal pain	1/3	OMIM:301074
2000	ELF4	HP:0002014	Diarrhea	1/3	OMIM:301074
2000	ELF4	HP:0003593	Infantile onset	1/1	OMIM:301074
2000	ELF4	HP:0003565	Elevated erythrocyte sedimentation rate	2/3	OMIM:301074
2000	ELF4	HP:0002205	Recurrent respiratory infections	1/1	OMIM:301074
2000	ELF4	HP:0100633	Esophagitis	1/2	OMIM:301074
2000	ELF4	HP:0009789	Perianal abscess	1/3	OMIM:301074
2000	ELF4	HP:0003621	Juvenile onset	2/3	OMIM:301074
2000	ELF4	HP:0001945	Fever	0/1	OMIM:301074
2000	ELF4	HP:0001954	Recurrent fever	3/3	OMIM:301074
2000	ELF4	HP:0011463	Childhood onset	1/3	OMIM:301074
2000	ELF4	HP:0030783	Increased circulating interleukin 6 concentration	1/1	OMIM:301074
2000	ELF4	HP:0040218	Reduced total natural killer cell count	1/1	OMIM:301074
2000	ELF4	HP:0000988	Skin rash	1/1	OMIM:301074
2000	ELF4	HP:0005231	Chronic gastritis	2/2	OMIM:301074
2000	ELF4	HP:0005218	Anoperineal fistula	1/3	OMIM:301074
2000	ELF4	HP:0012450	Chronic constipation	1/1	OMIM:301074
2000	ELF4	HP:0001824	Weight loss	1/3	OMIM:301074
2000	ELF4	HP:0011227	Elevated circulating C-reactive protein concentration	3/3	OMIM:301074
2000	ELF4	HP:0001891	Iron deficiency anemia	3/4	OMIM:301074
2000	ELF4	HP:0001894	Thrombocytosis	1/3	OMIM:301074
2000	ELF4	HP:0030374	Decreased proportion of memory B cells	1/1	OMIM:301074
2006	ELN	HP:0001181	Adducted thumb	HP:0040283	ORPHA:904
2006	ELN	HP:0001181	Adducted thumb	HP:0040283	ORPHA:90348
2006	ELN	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
2006	ELN	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:904
2006	ELN	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	OMIM:194050
2006	ELN	HP:0025167	Fragmented elastic fibers in the dermis	HP:0040281	ORPHA:90348
2006	ELN	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:904
2006	ELN	HP:0001297	Stroke	HP:0040282	ORPHA:904
2006	ELN	HP:0001297	Stroke	HP:0040284	OMIM:194050
2006	ELN	HP:0001297	Stroke	HP:0040283	ORPHA:91387
2006	ELN	HP:0001290	Generalized hypotonia	-	OMIM:194050
2006	ELN	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:904
2006	ELN	HP:0001270	Motor delay	HP:0040283	ORPHA:90348
2006	ELN	HP:0001288	Gait disturbance	HP:0040281	ORPHA:904
2006	ELN	HP:0001279	Syncope	HP:0040282	ORPHA:3193
2006	ELN	HP:0001252	Hypotonia	HP:0040283	ORPHA:90348
2006	ELN	HP:0001252	Hypotonia	HP:0040282	OMIM:194050
2006	ELN	HP:0001252	Hypotonia	HP:0040282	ORPHA:904
2006	ELN	HP:0001251	Ataxia	HP:0040281	ORPHA:904
2006	ELN	HP:0001249	Intellectual disability	HP:0040282	OMIM:194050
2006	ELN	HP:0001249	Intellectual disability	HP:0040281	ORPHA:904
2006	ELN	HP:0001260	Dysarthria	HP:0040283	ORPHA:904
2006	ELN	HP:0001263	Global developmental delay	HP:0040283	ORPHA:90348
2006	ELN	HP:0001257	Spasticity	HP:0040282	ORPHA:904
2006	ELN	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:904
2006	ELN	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:904
2006	ELN	HP:0008770	Obsessive-compulsive trait	-	OMIM:194050
2006	ELN	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:904
2006	ELN	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040283	ORPHA:904
2006	ELN	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:904
2006	ELN	HP:0008661	Urethral stenosis	HP:0040282	OMIM:194050
2006	ELN	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:904
2006	ELN	HP:0000089	Renal hypoplasia	-	OMIM:194050
2006	ELN	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:904
2006	ELN	HP:0000083	Renal insufficiency	-	OMIM:194050
2006	ELN	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
2006	ELN	HP:0000093	Proteinuria	HP:0040282	ORPHA:904
2006	ELN	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:904
2006	ELN	HP:0000076	Vesicoureteral reflux	-	OMIM:194050
2006	ELN	HP:0000075	Renal duplication	HP:0040283	ORPHA:904
2006	ELN	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:904
2006	ELN	HP:0001371	Flexion contracture	HP:0040282	OMIM:194050
2006	ELN	HP:0000054	Micropenis	HP:0040283	OMIM:194050
2006	ELN	HP:0001387	Joint stiffness	HP:0040282	ORPHA:904
2006	ELN	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:90348
2006	ELN	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:904
2006	ELN	HP:0001382	Joint hypermobility	HP:0040282	OMIM:194050
2006	ELN	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
2006	ELN	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:90348
2006	ELN	HP:0000023	Inguinal hernia	4/6	OMIM:123700
2006	ELN	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:904
2006	ELN	HP:0000023	Inguinal hernia	HP:0040283	OMIM:194050
2006	ELN	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
2006	ELN	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:90348
2006	ELN	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:904
2006	ELN	HP:0000015	Bladder diverticulum	HP:0040282	OMIM:194050
2006	ELN	HP:0000014	Abnormality of the bladder	HP:0040282	ORPHA:904
2006	ELN	HP:0001348	Brisk reflexes	HP:0040283	ORPHA:90348
2006	ELN	HP:0002677	Small foramen magnum	HP:0040284	ORPHA:90348
2006	ELN	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:904
2006	ELN	HP:0001347	Hyperreflexia	HP:0040282	OMIM:194050
2006	ELN	HP:0001361	Nystagmus-induced head nodding	HP:0040282	ORPHA:904
2006	ELN	HP:0000025	Functional abnormality of male internal genitalia	HP:0040283	ORPHA:904
2006	ELN	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:904
2006	ELN	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:90348
2006	ELN	HP:0008872	Feeding difficulties in infancy	HP:0040282	OMIM:194050
2006	ELN	HP:0007522	Increased number of skin folds	HP:0040281	ORPHA:90348
2006	ELN	HP:0007495	Prematurely aged appearance	HP:0040282	ORPHA:90348
2006	ELN	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:904
2006	ELN	HP:0007495	Prematurely aged appearance	-	OMIM:123700
2006	ELN	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:904
2006	ELN	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:904
2006	ELN	HP:0000010	Recurrent urinary tract infections	HP:0040282	OMIM:194050
2006	ELN	HP:0001337	Tremor	HP:0040281	ORPHA:904
2006	ELN	HP:0000006	Autosomal dominant inheritance	-	OMIM:185500
2006	ELN	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
2006	ELN	HP:0000006	Autosomal dominant inheritance	-	OMIM:123700
2006	ELN	HP:0000006	Autosomal dominant inheritance	-	OMIM:194050
2006	ELN	HP:0001310	Dysmetria	HP:0040281	ORPHA:904
2006	ELN	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:904
2006	ELN	HP:0002650	Scoliosis	HP:0040283	ORPHA:90348
2006	ELN	HP:0002650	Scoliosis	HP:0040283	ORPHA:904
2006	ELN	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
2006	ELN	HP:0001321	Cerebellar hypoplasia	15%	OMIM:194050
2006	ELN	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
2006	ELN	HP:0002645	Wormian bones	HP:0040284	ORPHA:90348
2006	ELN	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:904
2006	ELN	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
2006	ELN	HP:0002623	Overriding aorta	HP:0040283	ORPHA:904
2006	ELN	HP:0002608	Celiac disease	HP:0040283	OMIM:194050
2006	ELN	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:904
2006	ELN	HP:0000179	Thick lower lip vermilion	HP:0040282	OMIM:194050
2006	ELN	HP:0000194	Open mouth	HP:0040282	OMIM:194050
2006	ELN	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
2006	ELN	HP:0000158	Macroglossia	HP:0040281	ORPHA:904
2006	ELN	HP:0000139	Uterine prolapse	1/3	OMIM:123700
2006	ELN	HP:0000154	Wide mouth	HP:0040281	ORPHA:904
2006	ELN	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:904
2006	ELN	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
2006	ELN	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:904
2006	ELN	HP:0000121	Nephrocalcinosis	10%	OMIM:194050
2006	ELN	HP:0000122	Unilateral renal agenesis	HP:0040284	ORPHA:90348
2006	ELN	HP:0000125	Pelvic kidney	HP:0040282	ORPHA:904
2006	ELN	HP:0000125	Pelvic kidney	-	OMIM:194050
2006	ELN	HP:0001409	Portal hypertension	HP:0040283	OMIM:194050
2006	ELN	HP:0002751	Kyphoscoliosis	HP:0040282	OMIM:194050
2006	ELN	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:904
2006	ELN	HP:0002024	Malabsorption	HP:0040283	ORPHA:904
2006	ELN	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:904
2006	ELN	HP:0002020	Gastroesophageal reflux	HP:0040282	OMIM:194050
2006	ELN	HP:0002019	Constipation	HP:0040282	ORPHA:904
2006	ELN	HP:0002019	Constipation	HP:0040282	OMIM:194050
2006	ELN	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:904
2006	ELN	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:904
2006	ELN	HP:0002035	Rectal prolapse	HP:0040282	OMIM:194050
2006	ELN	HP:0002027	Abdominal pain	HP:0040281	ORPHA:904
2006	ELN	HP:0005989	Redundant neck skin	HP:0040283	ORPHA:90348
2006	ELN	HP:0002013	Vomiting	HP:0040284	ORPHA:90348
2006	ELN	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:904
2006	ELN	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:904
2006	ELN	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:904
2006	ELN	HP:0011800	Midface retrusion	-	OMIM:194050
2006	ELN	HP:0100539	Periorbital edema	HP:0040281	ORPHA:904
2006	ELN	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:904
2006	ELN	HP:0002097	Emphysema	2/3	OMIM:123700
2006	ELN	HP:0002097	Emphysema	HP:0040283	ORPHA:90348
2006	ELN	HP:0002094	Dyspnea	HP:0040282	ORPHA:3193
2006	ELN	HP:0002094	Dyspnea	1/3	OMIM:123700
2006	ELN	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:904
2006	ELN	HP:0100512	Decreased circulating vitamin D concentration	HP:0040283	ORPHA:90348
2006	ELN	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
2006	ELN	HP:0002141	Gait imbalance	HP:0040281	ORPHA:904
2006	ELN	HP:0002141	Gait imbalance	HP:0040282	OMIM:194050
2006	ELN	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
2006	ELN	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:904
2006	ELN	HP:0002150	Hypercalciuria	30%	OMIM:194050
2006	ELN	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:904
2006	ELN	HP:0004764	Myxomatous mitral valve degeneration	20%	OMIM:194050
2006	ELN	HP:0002110	Bronchiectasis	2/3	OMIM:123700
2006	ELN	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:90348
2006	ELN	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
2006	ELN	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
2006	ELN	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:904
2006	ELN	HP:0002183	Phonophobia	HP:0040281	ORPHA:904
2006	ELN	HP:0002183	Phonophobia	HP:0040282	OMIM:194050
2006	ELN	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:904
2006	ELN	HP:0010526	Dysgraphia	HP:0040281	ORPHA:904
2006	ELN	HP:0003577	Congenital onset	3/3	OMIM:123700
2006	ELN	HP:0002256	Small bowel diverticula	HP:0040283	ORPHA:90348
2006	ELN	HP:0002253	Colonic diverticula	HP:0040282	ORPHA:904
2006	ELN	HP:0002253	Colonic diverticula	30%	OMIM:194050
2006	ELN	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
2006	ELN	HP:0002216	Premature graying of hair	HP:0040282	OMIM:194050
2006	ELN	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:904
2006	ELN	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
2006	ELN	HP:0009748	Large earlobe	HP:0040282	OMIM:194050
2006	ELN	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
2006	ELN	HP:0100790	Hernia	HP:0040282	ORPHA:90348
2006	ELN	HP:0100785	Insomnia	HP:0040282	ORPHA:904
2006	ELN	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
2006	ELN	HP:0010674	Abnormal curvature of the vertebral column	HP:0040282	ORPHA:90348
2006	ELN	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:904
2006	ELN	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:904
2006	ELN	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:904
2006	ELN	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	OMIM:194050
2006	ELN	HP:0010648	Dermal translucency	HP:0040283	ORPHA:90348
2006	ELN	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:90348
2006	ELN	HP:0011950	Bronchiolitis	HP:0040283	ORPHA:90348
2006	ELN	HP:0007099	Chiari type I malformation	10%	OMIM:194050
2006	ELN	HP:0001058	Poor wound healing	0/2	OMIM:123700
2006	ELN	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:904
2006	ELN	HP:0002360	Sleep abnormality	HP:0040283	OMIM:194050
2006	ELN	HP:0002376	Developmental regression	HP:0040283	ORPHA:904
2006	ELN	HP:0002370	Poor coordination	-	OMIM:194050
2006	ELN	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
2006	ELN	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:904
2006	ELN	HP:0200021	Down-sloping shoulders	HP:0040282	OMIM:194050
2006	ELN	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:904
2006	ELN	HP:0100678	Premature skin wrinkling	HP:0040281	ORPHA:90348
2006	ELN	HP:0010807	Open bite	HP:0040281	ORPHA:904
2006	ELN	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:904
2006	ELN	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:904
2006	ELN	HP:0008499	High hypermetropia	HP:0040281	ORPHA:904
2006	ELN	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	OMIM:194050
2006	ELN	HP:0010780	Hyperacusis	HP:0040281	ORPHA:904
2006	ELN	HP:0010780	Hyperacusis	HP:0040282	OMIM:194050
2006	ELN	HP:0010747	Medial flaring of the eyebrow	HP:0040282	OMIM:194050
2006	ELN	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
2006	ELN	HP:0002311	Incoordination	HP:0040282	OMIM:194050
2006	ELN	HP:0002308	Chiari malformation	HP:0040283	ORPHA:904
2006	ELN	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040283	ORPHA:90348
2006	ELN	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:904
2006	ELN	HP:0004969	Peripheral pulmonary artery stenosis	1/1	OMIM:123700
2006	ELN	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	OMIM:194050
2006	ELN	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
2006	ELN	HP:0004950	Peripheral arterial stenosis	-	OMIM:185500
2006	ELN	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
2006	ELN	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
2006	ELN	HP:0004942	Aortic aneurysm	HP:0040282	ORPHA:90348
2006	ELN	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:904
2006	ELN	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	OMIM:194050
2006	ELN	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
2006	ELN	HP:0004295	Abnormal gastric mucosa morphology	HP:0040283	ORPHA:904
2006	ELN	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:904
2006	ELN	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040283	ORPHA:904
2006	ELN	HP:0000635	Blue irides	HP:0040283	ORPHA:904
2006	ELN	HP:0000635	Blue irides	HP:0040282	OMIM:194050
2006	ELN	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:904
2006	ELN	HP:0000646	Amblyopia	HP:0040283	OMIM:194050
2006	ELN	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:904
2006	ELN	HP:0000629	Periorbital fullness	HP:0040282	OMIM:194050
2006	ELN	HP:0001952	Glucose intolerance	-	OMIM:194050
2006	ELN	HP:0001920	Renal artery stenosis	HP:0040283	OMIM:194050
2006	ELN	HP:0000601	Hypotelorism	HP:0040283	OMIM:194050
2006	ELN	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:904
2006	ELN	HP:0000691	Microdontia	HP:0040282	ORPHA:904
2006	ELN	HP:0000691	Microdontia	HP:0040282	OMIM:194050
2006	ELN	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:904
2006	ELN	HP:0000689	Dental malocclusion	HP:0040282	OMIM:194050
2006	ELN	HP:0000670	Carious teeth	HP:0040283	ORPHA:904
2006	ELN	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:904
2006	ELN	HP:0000668	Hypodontia	HP:0040282	ORPHA:904
2006	ELN	HP:0000668	Hypodontia	HP:0040282	OMIM:194050
2006	ELN	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:90348
2006	ELN	HP:0004322	Short stature	HP:0040282	OMIM:194050
2006	ELN	HP:0004322	Short stature	HP:0040281	ORPHA:904
2006	ELN	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:904
2006	ELN	HP:0004305	Involuntary movements	HP:0040281	ORPHA:904
2006	ELN	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:904
2006	ELN	HP:0003072	Hypercalcemia	15%	OMIM:194050
2006	ELN	HP:0000805	Enuresis	-	OMIM:194050
2006	ELN	HP:0004381	Supravalvular aortic stenosis	-	OMIM:185500
2006	ELN	HP:0004381	Supravalvular aortic stenosis	HP:0040281	ORPHA:3193
2006	ELN	HP:0004381	Supravalvular aortic stenosis	HP:0040282	ORPHA:904
2006	ELN	HP:0004381	Supravalvular aortic stenosis	75%	OMIM:194050
2006	ELN	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:904
2006	ELN	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:904
2006	ELN	HP:0100025	Overfriendliness	HP:0040281	ORPHA:904
2006	ELN	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:904
2006	ELN	HP:0000767	Pectus excavatum	HP:0040283	OMIM:194050
2006	ELN	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
2006	ELN	HP:0000739	Anxiety	HP:0040281	ORPHA:904
2006	ELN	HP:0000739	Anxiety	80%	OMIM:194050
2006	ELN	HP:0000736	Short attention span	HP:0040282	OMIM:194050
2006	ELN	HP:0000716	Depression	HP:0040281	ORPHA:904
2006	ELN	HP:0000717	Autism	HP:0040282	ORPHA:904
2006	ELN	HP:0000729	Autistic behavior	HP:0040284	ORPHA:90348
2006	ELN	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:904
2006	ELN	HP:0100000	Early onset of sexual maturation	50%	OMIM:194050
2006	ELN	HP:0000708	Atypical behavior	HP:0040282	OMIM:194050
2006	ELN	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
2006	ELN	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:904
2006	ELN	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:904
2006	ELN	HP:0004415	Pulmonary artery stenosis	-	OMIM:185500
2006	ELN	HP:0004428	Elfin facies	HP:0040281	ORPHA:904
2006	ELN	HP:0003198	Myopathy	HP:0040283	ORPHA:904
2006	ELN	HP:0003196	Short nose	HP:0040281	ORPHA:904
2006	ELN	HP:0003196	Short nose	HP:0040282	OMIM:194050
2006	ELN	HP:0004467	Preauricular pit	-	OMIM:187500
2006	ELN	HP:0000819	Diabetes mellitus	75%	OMIM:194050
2006	ELN	HP:0000826	Precocious puberty	HP:0040283	ORPHA:904
2006	ELN	HP:0000822	Hypertension	HP:0040283	ORPHA:3193
2006	ELN	HP:0000822	Hypertension	HP:0040282	ORPHA:904
2006	ELN	HP:0000822	Hypertension	50%	OMIM:194050
2006	ELN	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
2006	ELN	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:904
2006	ELN	HP:0000821	Hypothyroidism	10%	OMIM:194050
2006	ELN	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:904
2006	ELN	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:904
2006	ELN	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
2006	ELN	HP:0000977	Soft skin	HP:0040282	OMIM:194050
2006	ELN	HP:0000974	Hyperextensible skin	0/2	OMIM:123700
2006	ELN	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:90348
2006	ELN	HP:0000973	Cutis laxa	2/3	OMIM:123700
2006	ELN	HP:0000973	Cutis laxa	HP:0040282	OMIM:194050
2006	ELN	HP:0000973	Cutis laxa	HP:0040281	ORPHA:90348
2006	ELN	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
2006	ELN	HP:0000960	Sacral dimple	HP:0040282	ORPHA:904
2006	ELN	HP:0000939	Osteoporosis	HP:0040283	ORPHA:904
2006	ELN	HP:0000939	Osteoporosis	HP:0040282	OMIM:194050
2006	ELN	HP:0000938	Osteopenia	HP:0040283	ORPHA:904
2006	ELN	HP:0000938	Osteopenia	HP:0040282	OMIM:194050
2006	ELN	HP:0000938	Osteopenia	HP:0040284	ORPHA:90348
2006	ELN	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:904
2006	ELN	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:904
2006	ELN	HP:0011675	Arrhythmia	HP:0040281	ORPHA:3193
2006	ELN	HP:0007720	Flat cornea	HP:0040283	ORPHA:904
2006	ELN	HP:0000286	Epicanthus	HP:0040281	ORPHA:904
2006	ELN	HP:0000286	Epicanthus	HP:0040282	OMIM:194050
2006	ELN	HP:0000280	Coarse facial features	HP:0040281	ORPHA:904
2006	ELN	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
2006	ELN	HP:0000293	Full cheeks	HP:0040282	OMIM:194050
2006	ELN	HP:0000275	Narrow face	HP:0040281	ORPHA:904
2006	ELN	HP:0000270	Delayed cranial suture closure	HP:0040283	ORPHA:90348
2006	ELN	HP:0000272	Malar flattening	HP:0040283	OMIM:194050
2006	ELN	HP:0005145	Coronary artery stenosis	HP:0040282	OMIM:194050
2006	ELN	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:904
2006	ELN	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
2006	ELN	HP:0002816	Genu recurvatum	HP:0040284	ORPHA:90348
2006	ELN	HP:0002829	Arthralgia	HP:0040282	ORPHA:904
2006	ELN	HP:0002827	Hip dislocation	HP:0040283	ORPHA:90348
2006	ELN	HP:0002808	Kyphosis	HP:0040282	ORPHA:904
2006	ELN	HP:0000252	Microcephaly	HP:0040283	ORPHA:90348
2006	ELN	HP:0000252	Microcephaly	HP:0040282	ORPHA:904
2006	ELN	HP:0001582	Redundant skin	HP:0040282	ORPHA:904
2006	ELN	HP:0001582	Redundant skin	2/2	OMIM:123700
2006	ELN	HP:0001582	Redundant skin	HP:0040281	ORPHA:90348
2006	ELN	HP:0012210	Abnormal renal morphology	HP:0040282	OMIM:194050
2006	ELN	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:904
2006	ELN	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
2006	ELN	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:904
2006	ELN	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:904
2006	ELN	HP:0001531	Failure to thrive in infancy	70%	OMIM:194050
2006	ELN	HP:0002857	Genu valgum	HP:0040282	ORPHA:904
2006	ELN	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:904
2006	ELN	HP:0001537	Umbilical hernia	HP:0040283	OMIM:194050
2006	ELN	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:90348
2006	ELN	HP:0001511	Intrauterine growth retardation	-	OMIM:194050
2006	ELN	HP:0001513	Obesity	HP:0040282	ORPHA:904
2006	ELN	HP:0001513	Obesity	HP:0040282	OMIM:194050
2006	ELN	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:904
2006	ELN	HP:0001609	Hoarse voice	HP:0040281	ORPHA:904
2006	ELN	HP:0001609	Hoarse voice	HP:0040282	OMIM:194050
2006	ELN	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:904
2006	ELN	HP:0001605	Vocal cord paralysis	HP:0040283	OMIM:194050
2006	ELN	HP:0001618	Dysphonia	HP:0040283	ORPHA:904
2006	ELN	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
2006	ELN	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:904
2006	ELN	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:904
2006	ELN	HP:0000369	Low-set ears	HP:0040283	ORPHA:90348
2006	ELN	HP:0001699	Sudden death	HP:0040284	OMIM:194050
2006	ELN	HP:0000341	Narrow forehead	HP:0040282	OMIM:194050
2006	ELN	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:904
2006	ELN	HP:0000343	Long philtrum	1/4	OMIM:123700
2006	ELN	HP:0000343	Long philtrum	HP:0040281	ORPHA:904
2006	ELN	HP:0000343	Long philtrum	10/20	OMIM:194050
2006	ELN	HP:0012330	Pyelonephritis	HP:0040283	ORPHA:90348
2006	ELN	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:904
2006	ELN	HP:0000337	Broad forehead	HP:0040281	ORPHA:904
2006	ELN	HP:0000337	Broad forehead	-	OMIM:187500
2006	ELN	HP:0000337	Broad forehead	HP:0040283	ORPHA:90348
2006	ELN	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:904
2006	ELN	HP:0001681	Angina pectoris	HP:0040282	ORPHA:3193
2006	ELN	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:90348
2006	ELN	HP:0000348	High forehead	HP:0040281	ORPHA:904
2006	ELN	HP:0000347	Micrognathia	HP:0040281	ORPHA:904
2006	ELN	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
2006	ELN	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:904
2006	ELN	HP:0001647	Bicuspid aortic valve	-	OMIM:194050
2006	ELN	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
2006	ELN	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
2006	ELN	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:904
2006	ELN	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
2006	ELN	HP:0001642	Pulmonic stenosis	-	OMIM:185500
2006	ELN	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:904
2006	ELN	HP:0001642	Pulmonic stenosis	HP:0040282	OMIM:194050
2006	ELN	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:904
2006	ELN	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:904
2006	ELN	HP:0002974	Radioulnar synostosis	HP:0040283	OMIM:194050
2006	ELN	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:904
2006	ELN	HP:0001659	Aortic regurgitation	-	OMIM:123700
2006	ELN	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:90348
2006	ELN	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
2006	ELN	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:904
2006	ELN	HP:0001653	Mitral regurgitation	-	OMIM:123700
2006	ELN	HP:0001653	Mitral regurgitation	HP:0040282	OMIM:194050
2006	ELN	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:90348
2006	ELN	HP:0000325	Triangular face	HP:0040283	ORPHA:90348
2006	ELN	HP:0001629	Ventricular septal defect	1/3	OMIM:123700
2006	ELN	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:904
2006	ELN	HP:0001629	Ventricular septal defect	HP:0040283	OMIM:194050
2006	ELN	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:904
2006	ELN	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:904
2006	ELN	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
2006	ELN	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:904
2006	ELN	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:904
2006	ELN	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
2006	ELN	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:904
2006	ELN	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:90348
2006	ELN	HP:0001635	Congestive heart failure	1/3	OMIM:123700
2006	ELN	HP:0000307	Pointed chin	HP:0040281	ORPHA:904
2006	ELN	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:904
2006	ELN	HP:0001631	Atrial septal defect	HP:0040283	OMIM:194050
2006	ELN	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:904
2006	ELN	HP:0001634	Mitral valve prolapse	HP:0040282	OMIM:194050
2006	ELN	HP:0007957	Corneal opacity	HP:0040283	ORPHA:904
2006	ELN	HP:0007957	Corneal opacity	HP:0040283	ORPHA:90348
2006	ELN	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
2006	ELN	HP:0006698	Dilatation of the ventricular cavity	HP:0040283	ORPHA:90348
2006	ELN	HP:0005328	Progeroid facial appearance	-	OMIM:123700
2006	ELN	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:904
2006	ELN	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:904
2006	ELN	HP:0000407	Sensorineural hearing impairment	HP:0040282	OMIM:194050
2006	ELN	HP:0000403	Recurrent otitis media	HP:0040282	OMIM:194050
2006	ELN	HP:0000400	Macrotia	HP:0040281	ORPHA:904
2006	ELN	HP:0005280	Depressed nasal bridge	HP:0040282	OMIM:194050
2006	ELN	HP:0000486	Strabismus	HP:0040283	ORPHA:90348
2006	ELN	HP:0000486	Strabismus	HP:0040282	ORPHA:904
2006	ELN	HP:0000486	Strabismus	HP:0040282	OMIM:194050
2006	ELN	HP:0000485	Megalocornea	HP:0040283	ORPHA:904
2006	ELN	HP:0001792	Small nail	HP:0040282	OMIM:194050
2006	ELN	HP:0000464	Abnormality of the neck	HP:0040281	ORPHA:904
2006	ELN	HP:0000463	Anteverted nares	HP:0040282	OMIM:194050
2006	ELN	HP:0012450	Chronic constipation	-	OMIM:194050
2006	ELN	HP:0000455	Broad nasal tip	HP:0040282	OMIM:194050
2006	ELN	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:904
2006	ELN	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
2006	ELN	HP:0001763	Pes planus	HP:0040282	ORPHA:904
2006	ELN	HP:0001763	Pes planus	HP:0040284	ORPHA:90348
2006	ELN	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
2006	ELN	HP:0000444	Convex nasal ridge	1/3	OMIM:123700
2006	ELN	HP:0000411	Protruding ear	HP:0040281	ORPHA:904
2006	ELN	HP:0000411	Protruding ear	HP:0040283	ORPHA:90348
2006	ELN	HP:0001762	Talipes equinovarus	HP:0040284	ORPHA:90348
2006	ELN	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:904
2006	ELN	HP:0000518	Cataract	HP:0040283	ORPHA:904
2006	ELN	HP:0000519	Developmental cataract	HP:0040283	ORPHA:90348
2006	ELN	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
2006	ELN	HP:0000520	Proptosis	-	OMIM:187500
2006	ELN	HP:0001822	Hallux valgus	HP:0040282	ORPHA:904
2006	ELN	HP:0001822	Hallux valgus	HP:0040282	OMIM:194050
2006	ELN	HP:0000508	Ptosis	HP:0040283	ORPHA:90348
2006	ELN	HP:0000505	Visual impairment	HP:0040282	ORPHA:904
2006	ELN	HP:0000501	Glaucoma	HP:0040283	ORPHA:904
2006	ELN	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:904
2006	ELN	HP:0031664	Systolic heart murmur	HP:0040282	ORPHA:3193
2006	ELN	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:904
2006	ELN	HP:0000581	Blepharophimosis	HP:0040282	OMIM:194050
2006	ELN	HP:0011220	Prominent forehead	HP:0040283	ORPHA:90348
2006	ELN	HP:0001884	Talipes calcaneovalgus	HP:0040284	ORPHA:90348
2006	ELN	HP:0012537	Food intolerance	-	OMIM:194050
2006	ELN	HP:0000539	Abnormality of refraction	HP:0040283	OMIM:194050
2006	ELN	HP:0000545	Myopia	HP:0040283	ORPHA:904
2009	EML1	HP:0010864	Intellectual disability, severe	3/3	OMIM:600348
2009	EML1	HP:0001274	Agenesis of corpus callosum	4/4	OMIM:600348
2009	EML1	HP:0001250	Seizure	4/5	OMIM:600348
2009	EML1	HP:0001263	Global developmental delay	3/3	OMIM:600348
2009	EML1	HP:0001257	Spasticity	-	OMIM:600348
2009	EML1	HP:0001357	Plagiocephaly	1/3	OMIM:600348
2009	EML1	HP:0032409	Subcortical band heterotopia	4/4	OMIM:600348
2009	EML1	HP:0000007	Autosomal recessive inheritance	-	OMIM:600348
2009	EML1	HP:0002119	Ventriculomegaly	1/3	OMIM:600348
2009	EML1	HP:0002126	Polymicrogyria	4/4	OMIM:600348
2009	EML1	HP:0003577	Congenital onset	1/1	OMIM:600348
2009	EML1	HP:0002282	Gray matter heterotopia	1/1	OMIM:600348
2009	EML1	HP:0002360	Sleep abnormality	-	OMIM:600348
2009	EML1	HP:0006956	Lateral ventricle dilatation	1/1	OMIM:600348
2009	EML1	HP:0012736	Profound global developmental delay	1/1	OMIM:600348
2009	EML1	HP:0000708	Atypical behavior	-	OMIM:600348
2009	EML1	HP:0000256	Macrocephaly	3/3	OMIM:600348
2009	EML1	HP:0000238	Hydrocephalus	1/1	OMIM:600348
2009	EML1	HP:0025517	Hypoplastic hippocampus	1/3	OMIM:600348
2010	EMD	HP:0002486	Myotonia	HP:0040281	ORPHA:98863
2010	EMD	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98863
2010	EMD	HP:0001252	Hypotonia	HP:0040283	ORPHA:98863
2010	EMD	HP:0001249	Intellectual disability	-	ORPHA:98863
2010	EMD	HP:0002515	Waddling gait	-	OMIM:310300
2010	EMD	HP:0002515	Waddling gait	HP:0040282	ORPHA:98863
2010	EMD	HP:0002505	Loss of ambulation	1/1	OMIM:310300
2010	EMD	HP:0003805	Rimmed vacuoles	HP:0040282	ORPHA:98863
2010	EMD	HP:0001387	Joint stiffness	HP:0040281	ORPHA:98863
2010	EMD	HP:0002650	Scoliosis	HP:0040283	ORPHA:98863
2010	EMD	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:98863
2010	EMD	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:98863
2010	EMD	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040282	ORPHA:98863
2010	EMD	HP:0008948	Proximal upper limb amyotrophy	HP:0040282	ORPHA:98863
2010	EMD	HP:0008956	Proximal lower limb amyotrophy	HP:0040282	ORPHA:98863
2010	EMD	HP:0001419	X-linked recessive inheritance	-	OMIM:310300
2010	EMD	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040284	ORPHA:98863
2010	EMD	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:98863
2010	EMD	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:98863
2010	EMD	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	-	OMIM:310300
2010	EMD	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	HP:0040282	ORPHA:98863
2010	EMD	HP:0011807	Type 1 muscle fiber atrophy	-	OMIM:310300
2010	EMD	HP:0011807	Type 1 muscle fiber atrophy	HP:0040282	ORPHA:98863
2010	EMD	HP:0033122	Absent P wave	1/1	OMIM:310300
2010	EMD	HP:0011705	First degree atrioventricular block	1/1	OMIM:310300
2010	EMD	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:98863
2010	EMD	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98863
2010	EMD	HP:0003418	Back pain	HP:0040282	ORPHA:98863
2010	EMD	HP:0003691	Scapular winging	HP:0040282	ORPHA:98863
2010	EMD	HP:0003677	Slowly progressive	-	OMIM:310300
2010	EMD	HP:0003621	Juvenile onset	11/11	OMIM:310300
2010	EMD	HP:0001962	Palpitations	1/1	OMIM:310300
2010	EMD	HP:0000767	Pectus excavatum	-	OMIM:310300
2010	EMD	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:98863
2010	EMD	HP:0011463	Childhood onset	-	OMIM:310300
2010	EMD	HP:0009125	Lipodystrophy	HP:0040283	ORPHA:98863
2010	EMD	HP:0003198	Myopathy	HP:0040281	ORPHA:98863
2010	EMD	HP:0003198	Myopathy	-	OMIM:310300
2010	EMD	HP:0000912	Sprengel anomaly	HP:0040282	ORPHA:98863
2010	EMD	HP:0003141	Increased LDL cholesterol concentration	HP:0040282	ORPHA:98863
2010	EMD	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:310300
2010	EMD	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:98863
2010	EMD	HP:0003202	Skeletal muscle atrophy	1/1	OMIM:310300
2010	EMD	HP:0008064	Ichthyosis	HP:0040283	ORPHA:98863
2010	EMD	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:98863
2010	EMD	HP:0002808	Kyphosis	HP:0040283	ORPHA:98863
2010	EMD	HP:0006380	Knee flexion contracture	1/1	OMIM:310300
2010	EMD	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:98863
2010	EMD	HP:0001513	Obesity	HP:0040283	ORPHA:98863
2010	EMD	HP:0001605	Vocal cord paralysis	HP:0040284	ORPHA:98863
2010	EMD	HP:0005155	Ventricular escape rhythm	HP:0040284	ORPHA:98863
2010	EMD	HP:0001692	Atrial arrhythmia	-	OMIM:310300
2010	EMD	HP:0030117	Absent muscle fiber emerin	HP:0040282	ORPHA:98863
2010	EMD	HP:0001678	Atrioventricular block	-	OMIM:310300
2010	EMD	HP:0001678	Atrioventricular block	HP:0040283	ORPHA:98863
2010	EMD	HP:0001645	Sudden cardiac death	-	OMIM:310300
2010	EMD	HP:0001645	Sudden cardiac death	HP:0040284	ORPHA:98863
2010	EMD	HP:0002987	Elbow flexion contracture	1/1	OMIM:310300
2010	EMD	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:98863
2010	EMD	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:98863
2010	EMD	HP:0000464	Abnormality of the neck	-	OMIM:310300
2010	EMD	HP:0000470	Short neck	HP:0040282	ORPHA:98863
2010	EMD	HP:0001771	Achilles tendon contracture	1/1	OMIM:310300
2010	EMD	HP:0001771	Achilles tendon contracture	HP:0040283	ORPHA:98863
2010	EMD	HP:0006785	Limb-girdle muscular dystrophy	HP:0040281	ORPHA:98863
2010	EMD	HP:0000508	Ptosis	HP:0040283	ORPHA:98863
2013	EMP2	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
2013	EMP2	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
2013	EMP2	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
2013	EMP2	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
2013	EMP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615861
2013	EMP2	HP:0031266	Podocyte foot process effacement	-	OMIM:615861
2013	EMP2	HP:0000100	Nephrotic syndrome	4/4	OMIM:615861
2013	EMP2	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
2013	EMP2	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
2013	EMP2	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
2013	EMP2	HP:0002315	Headache	HP:0040283	ORPHA:656
2013	EMP2	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
2013	EMP2	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
2013	EMP2	HP:0001945	Fever	HP:0040283	ORPHA:656
2013	EMP2	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
2013	EMP2	HP:0000737	Irritability	HP:0040283	ORPHA:656
2013	EMP2	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
2013	EMP2	HP:0000969	Edema	HP:0040281	ORPHA:656
2013	EMP2	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
2013	EMP2	HP:0012588	Steroid-resistant nephrotic syndrome	1/4	OMIM:615861
2013	EMP2	HP:0012579	Minimal change glomerulonephritis	1/1	OMIM:615861
2013	EMP2	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
2018	EMX2	HP:0001274	Agenesis of corpus callosum	-	OMIM:269160
2018	EMX2	HP:0002120	Cerebral cortical atrophy	-	OMIM:269160
2018	EMX2	HP:0010636	Schizencephaly	-	OMIM:269160
2019	EN1	HP:0001290	Generalized hypotonia	1/1	OMIM:619218
2019	EN1	HP:0001252	Hypotonia	1/1	OMIM:619218
2019	EN1	HP:0001382	Joint hypermobility	1/1	OMIM:619218
2019	EN1	HP:0000011	Neurogenic bladder	1/1	OMIM:619218
2019	EN1	HP:0000010	Recurrent urinary tract infections	1/1	OMIM:619218
2019	EN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619218
2019	EN1	HP:0000126	Hydronephrosis	1/1	OMIM:619218
2019	EN1	HP:0002754	Osteomyelitis	1/1	OMIM:619218
2019	EN1	HP:0031260	Triangular tibia	1/1	OMIM:619218
2019	EN1	HP:0009460	Aplasia of the 3rd finger	1/1	OMIM:619218
2019	EN1	HP:0003577	Congenital onset	1/1	OMIM:619218
2019	EN1	HP:0002365	Hypoplasia of the brainstem	1/1	OMIM:619218
2019	EN1	HP:0012642	Cerebellar agenesis	1/1	OMIM:619218
2019	EN1	HP:0000750	Delayed speech and language development	1/1	OMIM:619218
2019	EN1	HP:0030884	Gastrojejunal tube feeding in infancy	1/1	OMIM:619218
2019	EN1	HP:0000252	Microcephaly	1/1	OMIM:619218
2019	EN1	HP:0033977	Talar aplasia	1/1	OMIM:619218
2019	EN1	HP:0001537	Umbilical hernia	1/1	OMIM:619218
2019	EN1	HP:0001508	Failure to thrive	1/1	OMIM:619218
2019	EN1	HP:0011167	Focal tonic seizure	1/1	OMIM:619218
2019	EN1	HP:0032988	Persistent head lag	1/1	OMIM:619218
2019	EN1	HP:0001770	Toe syndactyly	1/1	OMIM:619218
2022	ENG	HP:0001123	Visual field defect	HP:0040282	ORPHA:231160
2022	ENG	HP:0002408	Cerebral arteriovenous malformation	HP:0040283	ORPHA:774
2022	ENG	HP:0002408	Cerebral arteriovenous malformation	5/62	OMIM:187300
2022	ENG	HP:0001269	Hemiparesis	HP:0040282	ORPHA:231160
2022	ENG	HP:0001250	Seizure	HP:0040283	ORPHA:774
2022	ENG	HP:0001250	Seizure	-	OMIM:187300
2022	ENG	HP:0001250	Seizure	HP:0040282	ORPHA:231160
2022	ENG	HP:0001232	Nail bed telangiectasia	-	OMIM:187300
2022	ENG	HP:0002573	Hematochezia	-	OMIM:187300
2022	ENG	HP:0002573	Hematochezia	HP:0040282	ORPHA:329971
2022	ENG	HP:0100896	Rectal polyposis	HP:0040282	ORPHA:329971
2022	ENG	HP:0006107	Fingerpad telangiectases	-	OMIM:187300
2022	ENG	HP:0100858	Dilatation of celiac artery	-	OMIM:187300
2022	ENG	HP:0001217	Clubbing	-	OMIM:187300
2022	ENG	HP:0001399	Hepatic failure	HP:0040283	ORPHA:774
2022	ENG	HP:0001394	Cirrhosis	-	OMIM:187300
2022	ENG	HP:0001394	Cirrhosis	HP:0040283	ORPHA:774
2022	ENG	HP:0001342	Cerebral hemorrhage	HP:0040283	ORPHA:774
2022	ENG	HP:0001342	Cerebral hemorrhage	-	OMIM:187300
2022	ENG	HP:0000006	Autosomal dominant inheritance	-	OMIM:187300
2022	ENG	HP:0002642	Arteriovenous fistulas of celiac and mesenteric vessels	-	OMIM:187300
2022	ENG	HP:0002647	Aortic dissection	HP:0040283	ORPHA:231160
2022	ENG	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:231160
2022	ENG	HP:0002629	Gastrointestinal arteriovenous malformation	HP:0040283	ORPHA:774
2022	ENG	HP:0002629	Gastrointestinal arteriovenous malformation	-	OMIM:187300
2022	ENG	HP:0002626	Venous varicosities of celiac and mesenteric vessels	-	OMIM:187300
2022	ENG	HP:0002621	Atherosclerosis	HP:0040282	ORPHA:231160
2022	ENG	HP:0002604	Gastrointestinal telangiectasia	-	OMIM:187300
2022	ENG	HP:0012151	Hemothorax	-	OMIM:187300
2022	ENG	HP:0002707	Palate telangiectasia	-	OMIM:187300
2022	ENG	HP:0032542	Exacerbated by pregnancy	-	OMIM:187300
2022	ENG	HP:0001409	Portal hypertension	HP:0040282	ORPHA:774
2022	ENG	HP:0002094	Dyspnea	20/20	OMIM:187300
2022	ENG	HP:0002092	Pulmonary arterial hypertension	-	OMIM:187300
2022	ENG	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:774
2022	ENG	HP:0002091	Restrictive ventilatory defect	19/126	OMIM:187300
2022	ENG	HP:0002076	Migraine	20/49	OMIM:187300
2022	ENG	HP:0002076	Migraine	HP:0040282	ORPHA:774
2022	ENG	HP:0002040	Esophageal varix	HP:0040283	ORPHA:774
2022	ENG	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:774
2022	ENG	HP:0100585	Telangiectasia of the skin	2/2	OMIM:187300
2022	ENG	HP:0100579	Mucosal telangiectasiae	HP:0040281	ORPHA:774
2022	ENG	HP:0002140	Ischemic stroke	-	OMIM:187300
2022	ENG	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:774
2022	ENG	HP:0002138	Subarachnoid hemorrhage	-	OMIM:187300
2022	ENG	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:231160
2022	ENG	HP:0004783	Duodenal polyposis	HP:0040284	ORPHA:329971
2022	ENG	HP:0002105	Hemoptysis	HP:0040283	ORPHA:774
2022	ENG	HP:0002105	Hemoptysis	1/1	OMIM:187300
2022	ENG	HP:0011934	Dilatation of mesenteric artery	-	OMIM:187300
2022	ENG	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:231160
2022	ENG	HP:0002239	Gastrointestinal hemorrhage	1/13	OMIM:187300
2022	ENG	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:774
2022	ENG	HP:0002249	Melena	-	OMIM:187300
2022	ENG	HP:0002248	Hematemesis	-	OMIM:187300
2022	ENG	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:774
2022	ENG	HP:0100784	Peripheral arteriovenous fistula	HP:0040283	ORPHA:774
2022	ENG	HP:0100749	Chest pain	-	OMIM:187300
2022	ENG	HP:0100761	Visceral angiomatosis	HP:0040282	ORPHA:774
2022	ENG	HP:0007029	Cerebral berry aneurysm	HP:0040280	ORPHA:231160
2022	ENG	HP:0002390	Spinal arteriovenous malformation	-	OMIM:187300
2022	ENG	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:231160
2022	ENG	HP:0001009	Telangiectasia	HP:0040281	ORPHA:774
2022	ENG	HP:0001009	Telangiectasia	1/1	OMIM:187300
2022	ENG	HP:0001017	Anemic pallor	HP:0040282	ORPHA:329971
2022	ENG	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:774
2022	ENG	HP:0002326	Transient ischemic attack	-	OMIM:187300
2022	ENG	HP:0002326	Transient ischemic attack	HP:0040282	ORPHA:231160
2022	ENG	HP:0100659	Abnormal cerebral vascular morphology	HP:0040283	ORPHA:774
2022	ENG	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:774
2022	ENG	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:774
2022	ENG	HP:0001903	Anemia	HP:0040282	ORPHA:774
2022	ENG	HP:0001903	Anemia	-	OMIM:187300
2022	ENG	HP:0001903	Anemia	HP:0040282	ORPHA:329971
2022	ENG	HP:0001901	Polycythemia	-	OMIM:187300
2022	ENG	HP:0004394	Multiple gastric polyps	HP:0040283	ORPHA:329971
2022	ENG	HP:0100026	Arteriovenous malformation	HP:0040282	ORPHA:774
2022	ENG	HP:0004406	Spontaneous, recurrent epistaxis	HP:0040281	ORPHA:774
2022	ENG	HP:0004406	Spontaneous, recurrent epistaxis	1/1	OMIM:187300
2022	ENG	HP:0000822	Hypertension	HP:0040282	ORPHA:231160
2022	ENG	HP:0030877	Reduced FEV1/FVC ratio	11/126	OMIM:187300
2022	ENG	HP:0040223	Pulmonary hemorrhage	-	OMIM:187300
2022	ENG	HP:0000969	Edema	HP:0040283	ORPHA:329971
2022	ENG	HP:0000961	Cyanosis	-	OMIM:187300
2022	ENG	HP:0040197	Encephalomalacia	HP:0040283	ORPHA:231160
2022	ENG	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:231160
2022	ENG	HP:0007763	Retinal telangiectasia	HP:0040283	ORPHA:774
2022	ENG	HP:0000214	Lip telangiectasia	HP:0040281	ORPHA:774
2022	ENG	HP:0000214	Lip telangiectasia	-	OMIM:187300
2022	ENG	HP:0002875	Exertional dyspnea	-	OMIM:187300
2022	ENG	HP:0000227	Tongue telangiectasia	HP:0040281	ORPHA:774
2022	ENG	HP:0000227	Tongue telangiectasia	-	OMIM:187300
2022	ENG	HP:0030049	Brain abscess	-	OMIM:187300
2022	ENG	HP:0001510	Growth delay	HP:0040283	ORPHA:329971
2022	ENG	HP:0011025	Abnormal cardiovascular system physiology	HP:0040282	ORPHA:774
2022	ENG	HP:0005268	Miscarriage	8/28	OMIM:187300
2022	ENG	HP:0006574	Hepatic arteriovenous malformation	HP:0040282	ORPHA:774
2022	ENG	HP:0006574	Hepatic arteriovenous malformation	1/2	OMIM:187300
2022	ENG	HP:0006548	Pulmonary arteriovenous malformation	HP:0040282	ORPHA:774
2022	ENG	HP:0006548	Pulmonary arteriovenous malformation	29/65	OMIM:187300
2022	ENG	HP:0005227	Adenomatous colonic polyposis	HP:0040282	ORPHA:329971
2022	ENG	HP:0001694	Right-to-left shunt	-	OMIM:187300
2022	ENG	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:774
2022	ENG	HP:0001722	High-output congestive heart failure	-	OMIM:187300
2022	ENG	HP:0000471	Gastrointestinal angiodysplasia	-	OMIM:187300
2022	ENG	HP:0030256	Small intestinal polyposis	HP:0040284	ORPHA:329971
2022	ENG	HP:0000434	Nasal mucosa telangiectasia	HP:0040281	ORPHA:774
2022	ENG	HP:0000434	Nasal mucosa telangiectasia	-	OMIM:187300
2022	ENG	HP:0012418	Hypoxemia	-	OMIM:187300
2022	ENG	HP:0025709	Intermediate young adult onset	1/1	OMIM:187300
2022	ENG	HP:0000421	Epistaxis	HP:0040281	ORPHA:774
2022	ENG	HP:0000524	Conjunctival telangiectasia	HP:0040283	ORPHA:774
2022	ENG	HP:0000524	Conjunctival telangiectasia	-	OMIM:187300
2022	ENG	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:329971
2022	ENG	HP:0012518	Abnormal circle of Willis morphology	HP:0040282	ORPHA:231160
2027	ENO3	HP:0000007	Autosomal recessive inheritance	-	OMIM:612932
2027	ENO3	HP:0003326	Myalgia	-	OMIM:612932
2027	ENO3	HP:0003581	Adult onset	-	OMIM:612932
2027	ENO3	HP:0003546	Exercise intolerance	-	OMIM:612932
2027	ENO3	HP:0034633	Reduced muscle enolase activity	1/1	OMIM:612932
2027	ENO3	HP:0009051	Increased muscle glycogen content	-	OMIM:612932
2027	ENO3	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:612932
2033	EP300	HP:0001181	Adducted thumb	HP:0040284	ORPHA:353284
2033	EP300	HP:0001159	Syndactyly	HP:0040283	ORPHA:353284
2033	EP300	HP:0001159	Syndactyly	1/1	OMIM:180849
2033	EP300	HP:0001159	Syndactyly	HP:0040283	OMIM:613684
2033	EP300	HP:0001128	Trichiasis	HP:0040283	ORPHA:353284
2033	EP300	HP:0020206	Simple ear	1/1	OMIM:180849
2033	EP300	HP:0002414	Spina bifida	1/1	OMIM:180849
2033	EP300	HP:0003745	Sporadic	-	OMIM:180849
2033	EP300	HP:0003745	Sporadic	-	OMIM:613684
2033	EP300	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2033	EP300	HP:0025269	Panic attack	HP:0040282	ORPHA:353284
2033	EP300	HP:0001293	Cranial nerve compression	-	OMIM:131300
2033	EP300	HP:0001290	Generalized hypotonia	-	OMIM:613684
2033	EP300	HP:0001274	Agenesis of corpus callosum	1/1	OMIM:180849
2033	EP300	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:353284
2033	EP300	HP:0001256	Intellectual disability, mild	3/4	OMIM:613684
2033	EP300	HP:0001250	Seizure	HP:0040284	ORPHA:353284
2033	EP300	HP:0001250	Seizure	0/6	OMIM:180849
2033	EP300	HP:0001252	Hypotonia	HP:0040283	ORPHA:353284
2033	EP300	HP:0001252	Hypotonia	4/4	OMIM:180849
2033	EP300	HP:0001252	Hypotonia	2/7	OMIM:615777
2033	EP300	HP:0001249	Intellectual disability	1/2	OMIM:618333
2033	EP300	HP:0001249	Intellectual disability	HP:0040283	ORPHA:353284
2033	EP300	HP:0001249	Intellectual disability	7/7	OMIM:613684
2033	EP300	HP:0001249	Intellectual disability	8/8	OMIM:180849
2033	EP300	HP:0001249	Intellectual disability	5/7	OMIM:615777
2033	EP300	HP:0001263	Global developmental delay	4/7	OMIM:613684
2033	EP300	HP:0001263	Global developmental delay	10/10	OMIM:180849
2033	EP300	HP:0001263	Global developmental delay	-	OMIM:615777
2033	EP300	HP:0002588	Duodenal ulcer	1/2	OMIM:618333
2033	EP300	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:353284
2033	EP300	HP:0002566	Intestinal malrotation	HP:0040284	OMIM:613684
2033	EP300	HP:0008752	Laryngeal cartilage malformation	HP:0040282	ORPHA:353284
2033	EP300	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:353284
2033	EP300	HP:0100852	Abnormal fear-induced behavior	HP:0040282	ORPHA:353284
2033	EP300	HP:0008689	Bilateral cryptorchidism	2/2	OMIM:180849
2033	EP300	HP:0001212	Prominent fingertip pads	-	OMIM:180849
2033	EP300	HP:0001212	Prominent fingertip pads	2/3	OMIM:613684
2033	EP300	HP:0002553	Highly arched eyebrow	3/3	OMIM:613684
2033	EP300	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:353284
2033	EP300	HP:0002553	Highly arched eyebrow	7/7	OMIM:180849
2033	EP300	HP:0002515	Waddling gait	54/102	OMIM:131300
2033	EP300	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:353284
2033	EP300	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:353284
2033	EP300	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:353284
2033	EP300	HP:0001371	Flexion contracture	-	OMIM:180849
2033	EP300	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:353284
2033	EP300	HP:0001382	Joint hypermobility	1/2	OMIM:618333
2033	EP300	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:353284
2033	EP300	HP:0001382	Joint hypermobility	20/20	OMIM:180849
2033	EP300	HP:0001382	Joint hypermobility	-	OMIM:615777
2033	EP300	HP:0000047	Hypospadias	HP:0040283	ORPHA:353284
2033	EP300	HP:0000047	Hypospadias	1/2	OMIM:180849
2033	EP300	HP:0000049	Shawl scrotum	-	OMIM:180849
2033	EP300	HP:0001347	Hyperreflexia	-	OMIM:180849
2033	EP300	HP:0002697	Parietal foramina	-	OMIM:180849
2033	EP300	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2033	EP300	HP:0000034	Hydrocele testis	HP:0040283	ORPHA:353284
2033	EP300	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:353284
2033	EP300	HP:0000028	Cryptorchidism	1/4	OMIM:180849
2033	EP300	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:353284
2033	EP300	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2033	EP300	HP:0008897	Postnatal growth retardation	-	OMIM:180849
2033	EP300	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:353284
2033	EP300	HP:0008872	Feeding difficulties in infancy	4/4	OMIM:180849
2033	EP300	HP:0006200	Widened distal phalanges	HP:0040281	ORPHA:353284
2033	EP300	HP:0002664	Neoplasm	-	OMIM:180849
2033	EP300	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2033	EP300	HP:0001324	Muscle weakness	40/96	OMIM:131300
2033	EP300	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:353284
2033	EP300	HP:0001344	Absent speech	HP:0040283	ORPHA:353284
2033	EP300	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2033	EP300	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2033	EP300	HP:0000006	Autosomal dominant inheritance	-	OMIM:618333
2033	EP300	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
2033	EP300	HP:0000006	Autosomal dominant inheritance	-	OMIM:180849
2033	EP300	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2033	EP300	HP:0000006	Autosomal dominant inheritance	-	OMIM:613684
2033	EP300	HP:0002650	Scoliosis	0/9	OMIM:613684
2033	EP300	HP:0002650	Scoliosis	-	OMIM:180849
2033	EP300	HP:0002650	Scoliosis	12/14	OMIM:131300
2033	EP300	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2033	EP300	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2033	EP300	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2033	EP300	HP:0000189	Narrow palate	3/3	OMIM:180849
2033	EP300	HP:0000189	Narrow palate	HP:0040282	ORPHA:353284
2033	EP300	HP:0000189	Narrow palate	-	OMIM:613684
2033	EP300	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2033	EP300	HP:0000160	Narrow mouth	4/8	OMIM:613684
2033	EP300	HP:0000160	Narrow mouth	1/1	OMIM:180849
2033	EP300	HP:0000175	Cleft palate	1/1	OMIM:180849
2033	EP300	HP:0000175	Cleft palate	2/7	OMIM:615777
2033	EP300	HP:0006349	Agenesis of permanent teeth	2/2	OMIM:618333
2033	EP300	HP:0002705	High, narrow palate	1/1	OMIM:180849
2033	EP300	HP:0002700	Large foramen magnum	-	OMIM:180849
2033	EP300	HP:0006297	Enamel hypoplasia	-	OMIM:180849
2033	EP300	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:353284
2033	EP300	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:180849
2033	EP300	HP:0002788	Recurrent upper respiratory tract infections	2/2	OMIM:618333
2033	EP300	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:353284
2033	EP300	HP:0000126	Hydronephrosis	1/1	OMIM:180849
2033	EP300	HP:0031207	Hepatic hemangioma	1/1	OMIM:180849
2033	EP300	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
2033	EP300	HP:0002750	Delayed skeletal maturation	-	OMIM:180849
2033	EP300	HP:0031251	Abnormal subclavian artery morphology	HP:0040283	ORPHA:353284
2033	EP300	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:353284
2033	EP300	HP:0002020	Gastroesophageal reflux	2/2	OMIM:180849
2033	EP300	HP:0002019	Constipation	HP:0040282	ORPHA:353284
2033	EP300	HP:0002019	Constipation	-	OMIM:180849
2033	EP300	HP:0002002	Deep philtrum	1/2	OMIM:618333
2033	EP300	HP:0002000	Short columella	1/1	OMIM:180849
2033	EP300	HP:0002007	Frontal bossing	-	OMIM:180849
2033	EP300	HP:0003319	Abnormality of the cervical spine	HP:0040283	ORPHA:353284
2033	EP300	HP:0002098	Respiratory distress	-	OMIM:180849
2033	EP300	HP:0002099	Asthma	HP:0040284	ORPHA:353284
2033	EP300	HP:0002090	Pneumonia	HP:0040283	ORPHA:353284
2033	EP300	HP:0003396	Syringomyelia	HP:0040284	ORPHA:353284
2033	EP300	HP:0003388	Easy fatigability	36/76	OMIM:131300
2033	EP300	HP:0010442	Polydactyly	-	OMIM:180849
2033	EP300	HP:0010442	Polydactyly	HP:0040283	ORPHA:353284
2033	EP300	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2033	EP300	HP:0008107	Plantar crease between first and second toes	-	OMIM:180849
2033	EP300	HP:0011917	Short 5th toe	3/3	OMIM:613684
2033	EP300	HP:0002183	Phonophobia	-	OMIM:180849
2033	EP300	HP:0002194	Delayed gross motor development	-	OMIM:613684
2033	EP300	HP:0002162	Low posterior hairline	-	OMIM:180849
2033	EP300	HP:0010562	Keloids	2/5	OMIM:180849
2033	EP300	HP:0010562	Keloids	HP:0040284	ORPHA:353284
2033	EP300	HP:0003593	Infantile onset	2/4	OMIM:613684
2033	EP300	HP:0003593	Infantile onset	1/1	OMIM:180849
2033	EP300	HP:0003577	Congenital onset	2/4	OMIM:613684
2033	EP300	HP:0003577	Congenital onset	6/6	OMIM:180849
2033	EP300	HP:0002236	Frontal upsweep of hair	-	OMIM:180849
2033	EP300	HP:0100710	Impulsivity	-	OMIM:180849
2033	EP300	HP:0100710	Impulsivity	HP:0040282	ORPHA:353284
2033	EP300	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:353284
2033	EP300	HP:0002219	Facial hypertrichosis	4/4	OMIM:180849
2033	EP300	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:353284
2033	EP300	HP:0009715	Papillary cystadenoma of the epididymis	-	OMIM:180849
2033	EP300	HP:0010674	Abnormal curvature of the vertebral column	HP:0040283	ORPHA:353284
2033	EP300	HP:0011968	Feeding difficulties	2/12	OMIM:613684
2033	EP300	HP:0011968	Feeding difficulties	2/6	OMIM:180849
2033	EP300	HP:0010621	Cutaneous syndactyly of toes	1/2	OMIM:618333
2033	EP300	HP:0011947	Respiratory tract infection	1/1	OMIM:180849
2033	EP300	HP:0003510	Severe short stature	7/7	OMIM:615777
2033	EP300	HP:0007099	Chiari type I malformation	HP:0040283	ORPHA:353284
2033	EP300	HP:0007086	Social and occupational deterioration	HP:0040282	ORPHA:353284
2033	EP300	HP:0001042	High axial triradius	-	OMIM:180849
2033	EP300	HP:0002370	Poor coordination	-	OMIM:180849
2033	EP300	HP:0002341	Cervical cord compression	HP:0040284	ORPHA:353284
2033	EP300	HP:0001007	Hirsutism	5/6	OMIM:180849
2033	EP300	HP:0001007	Hirsutism	3/9	OMIM:613684
2033	EP300	HP:0002353	EEG abnormality	HP:0040284	ORPHA:353284
2033	EP300	HP:0002353	EEG abnormality	-	OMIM:180849
2033	EP300	HP:0002317	Unsteady gait	-	OMIM:180849
2033	EP300	HP:0002315	Headache	-	OMIM:131300
2033	EP300	HP:0004976	Knee dislocation	6/7	OMIM:615777
2033	EP300	HP:0008523	Posterior helix pit	-	OMIM:613684
2033	EP300	HP:0009834	Abnormal proximal phalanx morphology of the hand	HP:0040282	ORPHA:353284
2033	EP300	HP:0009836	Broad distal phalanx of finger	1/1	OMIM:180849
2033	EP300	HP:0009836	Broad distal phalanx of finger	HP:0040282	ORPHA:353284
2033	EP300	HP:0100602	Preeclampsia	HP:0040283	OMIM:613684
2033	EP300	HP:0009803	Short phalanx of finger	-	OMIM:615777
2033	EP300	HP:0010775	Vascular ring	-	OMIM:180849
2033	EP300	HP:0010775	Vascular ring	HP:0040284	ORPHA:353284
2033	EP300	HP:0009778	Short thumb	1/1	OMIM:180849
2033	EP300	HP:0009763	Limb pain	63/92	OMIM:131300
2033	EP300	HP:0009765	Low hanging columella	6/6	OMIM:180849
2033	EP300	HP:0009765	Low hanging columella	HP:0040282	ORPHA:353284
2033	EP300	HP:0009765	Low hanging columella	13/13	OMIM:613684
2033	EP300	HP:0002311	Incoordination	1/1	OMIM:180849
2033	EP300	HP:0002308	Chiari malformation	HP:0040283	ORPHA:353284
2033	EP300	HP:0003621	Juvenile onset	-	OMIM:131300
2033	EP300	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2033	EP300	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:180849
2033	EP300	HP:0010059	Broad hallux phalanx	1/1	OMIM:180849
2033	EP300	HP:0010066	Duplication of phalanx of hallux	-	OMIM:180849
2033	EP300	HP:0005584	Renal cell carcinoma	-	OMIM:114500
2033	EP300	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2033	EP300	HP:0000639	Nystagmus	HP:0040283	ORPHA:353284
2033	EP300	HP:6001056	Out-toeing	-	OMIM:131300
2033	EP300	HP:0000651	Diplopia	-	OMIM:131300
2033	EP300	HP:0001956	Truncal obesity	-	OMIM:180849
2033	EP300	HP:0001956	Truncal obesity	2/7	OMIM:615777
2033	EP300	HP:0001909	Leukemia	-	OMIM:180849
2033	EP300	HP:0001903	Anemia	HP:0040283	OMIM:131300
2033	EP300	HP:0010049	Short metacarpal	-	OMIM:615777
2033	EP300	HP:0010051	Deviation of the hallux	HP:0040283	ORPHA:353284
2033	EP300	HP:0010055	Broad hallux	HP:0040281	ORPHA:353284
2033	EP300	HP:0010055	Broad hallux	15/16	OMIM:180849
2033	EP300	HP:0010055	Broad hallux	8/12	OMIM:613684
2033	EP300	HP:0011335	Frontal hirsutism	1/1	OMIM:180849
2033	EP300	HP:0000678	Dental crowding	HP:0040283	ORPHA:353284
2033	EP300	HP:0000678	Dental crowding	-	OMIM:615777
2033	EP300	HP:0000678	Dental crowding	1/1	OMIM:180849
2033	EP300	HP:0000678	Dental crowding	4/7	OMIM:613684
2033	EP300	HP:0000695	Natal tooth	HP:0040284	ORPHA:353284
2033	EP300	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:353284
2033	EP300	HP:0000689	Dental malocclusion	1/1	OMIM:180849
2033	EP300	HP:0000689	Dental malocclusion	5/10	OMIM:613684
2033	EP300	HP:0000670	Carious teeth	HP:0040283	ORPHA:353284
2033	EP300	HP:0000670	Carious teeth	-	OMIM:131300
2033	EP300	HP:0000670	Carious teeth	1/3	OMIM:613684
2033	EP300	HP:0011304	Broad thumb	HP:0040281	ORPHA:353284
2033	EP300	HP:0011304	Broad thumb	2/7	OMIM:615777
2033	EP300	HP:0011304	Broad thumb	17/18	OMIM:180849
2033	EP300	HP:0011304	Broad thumb	11/12	OMIM:613684
2033	EP300	HP:0000668	Hypodontia	HP:0040283	ORPHA:353284
2033	EP300	HP:0000668	Hypodontia	-	OMIM:615777
2033	EP300	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:353284
2033	EP300	HP:0000664	Synophrys	-	OMIM:615777
2033	EP300	HP:0004322	Short stature	HP:0040282	ORPHA:353284
2033	EP300	HP:0004322	Short stature	3/4	OMIM:613684
2033	EP300	HP:0004322	Short stature	4/6	OMIM:180849
2033	EP300	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:353284
2033	EP300	HP:0003083	Dislocated radial head	-	OMIM:180849
2033	EP300	HP:0004383	Hypoplastic left heart	1/4	OMIM:180849
2033	EP300	HP:0004396	Poor appetite	-	OMIM:131300
2033	EP300	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2033	EP300	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2033	EP300	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2033	EP300	HP:0003026	Short long bone	7/7	OMIM:615777
2033	EP300	HP:0031936	Delayed ability to walk	1/1	OMIM:618333
2033	EP300	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2033	EP300	HP:0012745	Short palpebral fissure	2/2	OMIM:618333
2033	EP300	HP:0000756	Agoraphobia	HP:0040282	ORPHA:353284
2033	EP300	HP:0000752	Hyperactivity	2/3	OMIM:613684
2033	EP300	HP:0000752	Hyperactivity	HP:0040283	ORPHA:353284
2033	EP300	HP:0000752	Hyperactivity	-	OMIM:180849
2033	EP300	HP:0000767	Pectus excavatum	-	OMIM:180849
2033	EP300	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2033	EP300	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2033	EP300	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2033	EP300	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:353284
2033	EP300	HP:0000736	Short attention span	-	OMIM:180849
2033	EP300	HP:0000750	Delayed speech and language development	1/1	OMIM:618333
2033	EP300	HP:0000750	Delayed speech and language development	5/11	OMIM:613684
2033	EP300	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:353284
2033	EP300	HP:0000750	Delayed speech and language development	6/6	OMIM:180849
2033	EP300	HP:0000750	Delayed speech and language development	-	OMIM:615777
2033	EP300	HP:0000742	Self-mutilation	-	OMIM:180849
2033	EP300	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:353284
2033	EP300	HP:0000717	Autism	-	OMIM:180849
2033	EP300	HP:0000712	Emotional lability	HP:0040282	ORPHA:353284
2033	EP300	HP:0000729	Autistic behavior	2/2	OMIM:618333
2033	EP300	HP:0000729	Autistic behavior	3/7	OMIM:613684
2033	EP300	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:353284
2033	EP300	HP:0000708	Atypical behavior	HP:0040282	ORPHA:353284
2033	EP300	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:353284
2033	EP300	HP:0011461	Fetal onset	7/7	OMIM:615777
2033	EP300	HP:0010105	Short first metatarsal	3/3	OMIM:613684
2033	EP300	HP:0000774	Narrow chest	2/7	OMIM:615777
2033	EP300	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:353284
2033	EP300	HP:0012760	Reduced social responsiveness	HP:0040282	ORPHA:353284
2033	EP300	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:353284
2033	EP300	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040283	ORPHA:353284
2033	EP300	HP:0004411	Deviated nasal septum	1/1	OMIM:180849
2033	EP300	HP:0000926	Platyspondyly	1/7	OMIM:615777
2033	EP300	HP:0003180	Flat acetabular roof	-	OMIM:615777
2033	EP300	HP:0004482	Relative macrocephaly	-	OMIM:615777
2033	EP300	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2033	EP300	HP:0034227	Aortic isthmus hypoplasia	1/5	OMIM:180849
2033	EP300	HP:0000823	Delayed puberty	-	OMIM:131300
2033	EP300	HP:0000894	Short clavicles	-	OMIM:615777
2033	EP300	HP:0005895	Radial deviation of thumb terminal phalanx	-	OMIM:180849
2033	EP300	HP:0030890	Hyperintensity of cerebral white matter on MRI	1/5	OMIM:180849
2033	EP300	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2033	EP300	HP:0003298	Spina bifida occulta	-	OMIM:180849
2033	EP300	HP:0010314	Premature thelarche	-	OMIM:180849
2033	EP300	HP:0000957	Cafe-au-lait spot	-	OMIM:180849
2033	EP300	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2033	EP300	HP:0000954	Single transverse palmar crease	-	OMIM:180849
2033	EP300	HP:0000932	Abnormal posterior cranial fossa morphology	HP:0040283	ORPHA:353284
2033	EP300	HP:0011682	Perimembranous ventricular septal defect	1/5	OMIM:180849
2033	EP300	HP:0000286	Epicanthus	1/2	OMIM:618333
2033	EP300	HP:0000286	Epicanthus	1/4	OMIM:613684
2033	EP300	HP:0000286	Epicanthus	-	OMIM:180849
2033	EP300	HP:0000286	Epicanthus	1/7	OMIM:615777
2033	EP300	HP:0000280	Coarse facial features	2/7	OMIM:615777
2033	EP300	HP:0000278	Retrognathia	2/4	OMIM:613684
2033	EP300	HP:0000278	Retrognathia	-	OMIM:180849
2033	EP300	HP:0000293	Full cheeks	1/2	OMIM:618333
2033	EP300	HP:0000294	Low anterior hairline	15/17	OMIM:180849
2033	EP300	HP:0000260	Wide anterior fontanel	-	OMIM:180849
2033	EP300	HP:0000270	Delayed cranial suture closure	-	OMIM:180849
2033	EP300	HP:0000273	Facial grimacing	-	OMIM:180849
2033	EP300	HP:0000273	Facial grimacing	HP:0040281	ORPHA:353284
2033	EP300	HP:0002827	Hip dislocation	3/7	OMIM:615777
2033	EP300	HP:0000252	Microcephaly	12/12	OMIM:613684
2033	EP300	HP:0000252	Microcephaly	7/9	OMIM:180849
2033	EP300	HP:0000252	Microcephaly	-	OMIM:615777
2033	EP300	HP:0000219	Thin upper lip vermilion	2/2	OMIM:618333
2033	EP300	HP:0000219	Thin upper lip vermilion	1/1	OMIM:180849
2033	EP300	HP:0000218	High palate	6/8	OMIM:613684
2033	EP300	HP:0000218	High palate	HP:0040281	ORPHA:353284
2033	EP300	HP:0000218	High palate	2/6	OMIM:180849
2033	EP300	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:353284
2033	EP300	HP:0001561	Polyhydramnios	-	OMIM:180849
2033	EP300	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
2033	EP300	HP:0002858	Meningioma	HP:0040283	ORPHA:353284
2033	EP300	HP:0002857	Genu valgum	-	OMIM:131300
2033	EP300	HP:0002870	Obstructive sleep apnea	-	OMIM:180849
2033	EP300	HP:0002870	Obstructive sleep apnea	HP:0040282	ORPHA:353284
2033	EP300	HP:0002869	Flared iliac wing	-	OMIM:180849
2033	EP300	HP:0001533	Slender build	-	OMIM:131300
2033	EP300	HP:0002866	Hypoplastic iliac wing	-	OMIM:180849
2033	EP300	HP:0001508	Failure to thrive	HP:0040282	ORPHA:353284
2033	EP300	HP:0001508	Failure to thrive	4/4	OMIM:180849
2033	EP300	HP:0002835	Aspiration	HP:0040283	ORPHA:353284
2033	EP300	HP:0030047	Abnormal lateral ventricle morphology	HP:0040283	ORPHA:353284
2033	EP300	HP:0001518	Small for gestational age	2/4	OMIM:180849
2033	EP300	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:353284
2033	EP300	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2033	EP300	HP:0001510	Growth delay	6/6	OMIM:180849
2033	EP300	HP:0001513	Obesity	HP:0040282	ORPHA:353284
2033	EP300	HP:0011094	Increased overbite	-	OMIM:613684
2033	EP300	HP:0011087	Talon cusp	2/10	OMIM:613684
2033	EP300	HP:0011087	Talon cusp	1/1	OMIM:180849
2033	EP300	HP:0011087	Talon cusp	HP:0040282	ORPHA:353284
2033	EP300	HP:0007807	Optic nerve compression	-	OMIM:131300
2033	EP300	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:353284
2033	EP300	HP:0000387	Absent earlobe	1/2	OMIM:618333
2033	EP300	HP:0012368	Flat face	7/7	OMIM:615777
2033	EP300	HP:0012368	Flat face	2/2	OMIM:618333
2033	EP300	HP:0000388	Otitis media	HP:0040283	ORPHA:353284
2033	EP300	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2033	EP300	HP:0001601	Laryngomalacia	-	OMIM:180849
2033	EP300	HP:0000365	Hearing impairment	1/2	OMIM:618333
2033	EP300	HP:0000365	Hearing impairment	2/6	OMIM:180849
2033	EP300	HP:0000365	Hearing impairment	10/67	OMIM:131300
2033	EP300	HP:0000358	Posteriorly rotated ears	7/12	OMIM:613684
2033	EP300	HP:0000369	Low-set ears	2/9	OMIM:613684
2033	EP300	HP:0000369	Low-set ears	HP:0040281	ORPHA:353284
2033	EP300	HP:0000369	Low-set ears	6/6	OMIM:180849
2033	EP300	HP:0000343	Long philtrum	1/7	OMIM:615777
2033	EP300	HP:0011001	Increased bone mineral density	-	OMIM:131300
2033	EP300	HP:0002999	Patellar dislocation	-	OMIM:180849
2033	EP300	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:353284
2033	EP300	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:353284
2033	EP300	HP:0001680	Coarctation of aorta	1/5	OMIM:180849
2033	EP300	HP:0000347	Micrognathia	1/2	OMIM:618333
2033	EP300	HP:0000347	Micrognathia	2/9	OMIM:613684
2033	EP300	HP:0000347	Micrognathia	HP:0040281	ORPHA:353284
2033	EP300	HP:0000347	Micrognathia	5/7	OMIM:180849
2033	EP300	HP:0001650	Aortic valve stenosis	HP:0040284	ORPHA:353284
2033	EP300	HP:0000321	Square face	1/2	OMIM:618333
2033	EP300	HP:0000319	Smooth philtrum	1/1	OMIM:180849
2033	EP300	HP:0001647	Bicuspid aortic valve	HP:0040284	ORPHA:353284
2033	EP300	HP:0000316	Hypertelorism	HP:0040281	ORPHA:353284
2033	EP300	HP:0000316	Hypertelorism	1/1	OMIM:180849
2033	EP300	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:353284
2033	EP300	HP:0001643	Patent ductus arteriosus	4/9	OMIM:180849
2033	EP300	HP:0000311	Round face	2/7	OMIM:615777
2033	EP300	HP:0001642	Pulmonic stenosis	HP:0040284	ORPHA:353284
2033	EP300	HP:0000327	Hypoplasia of the maxilla	1/1	OMIM:180849
2033	EP300	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:353284
2033	EP300	HP:0001655	Patent foramen ovale	1/4	OMIM:180849
2033	EP300	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:353284
2033	EP300	HP:0001629	Ventricular septal defect	1/5	OMIM:180849
2033	EP300	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:353284
2033	EP300	HP:0002970	Genu varum	-	OMIM:615777
2033	EP300	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:353284
2033	EP300	HP:0001631	Atrial septal defect	-	OMIM:180849
2033	EP300	HP:0000303	Mandibular prognathia	-	OMIM:131300
2033	EP300	HP:0001634	Mitral valve prolapse	1/1	OMIM:180849
2033	EP300	HP:0005301	Persistent left superior vena cava	1/4	OMIM:180849
2033	EP300	HP:0005374	Cellular immunodeficiency	HP:0040284	ORPHA:353284
2033	EP300	HP:0005363	Humoral immunodeficiency	HP:0040284	ORPHA:353284
2033	EP300	HP:0005306	Capillary hemangioma	1/1	OMIM:180849
2033	EP300	HP:0005322	Prominent nasal septum	HP:0040281	ORPHA:353284
2033	EP300	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:353284
2033	EP300	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:353284
2033	EP300	HP:0005280	Depressed nasal bridge	2/2	OMIM:618333
2033	EP300	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2033	EP300	HP:0000486	Strabismus	1/2	OMIM:618333
2033	EP300	HP:0000486	Strabismus	7/11	OMIM:613684
2033	EP300	HP:0000486	Strabismus	HP:0040283	ORPHA:353284
2033	EP300	HP:0000486	Strabismus	2/2	OMIM:180849
2033	EP300	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:353284
2033	EP300	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:353284
2033	EP300	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:353284
2033	EP300	HP:0000494	Downslanted palpebral fissures	8/8	OMIM:180849
2033	EP300	HP:0000494	Downslanted palpebral fissures	11/15	OMIM:613684
2033	EP300	HP:0000490	Deeply set eye	-	OMIM:180849
2033	EP300	HP:0012448	Delayed myelination	HP:0040283	ORPHA:353284
2033	EP300	HP:0012450	Chronic constipation	1/2	OMIM:618333
2033	EP300	HP:0000470	Short neck	1/7	OMIM:615777
2033	EP300	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2033	EP300	HP:0001763	Pes planus	1/7	OMIM:615777
2033	EP300	HP:0001763	Pes planus	-	OMIM:180849
2033	EP300	HP:0000448	Prominent nose	1/5	OMIM:180849
2033	EP300	HP:0000448	Prominent nose	10/13	OMIM:613684
2033	EP300	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:353284
2033	EP300	HP:0000444	Convex nasal ridge	8/8	OMIM:180849
2033	EP300	HP:0000444	Convex nasal ridge	1/4	OMIM:613684
2033	EP300	HP:0000446	Narrow nasal bridge	1/2	OMIM:618333
2033	EP300	HP:0001747	Accessory spleen	2/4	OMIM:180849
2033	EP300	HP:0001762	Talipes equinovarus	1/6	OMIM:180849
2033	EP300	HP:0000431	Wide nasal bridge	11/11	OMIM:180849
2033	EP300	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
2033	EP300	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
2033	EP300	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
2033	EP300	HP:0030434	Pilomatrixoma	HP:0040284	ORPHA:353284
2033	EP300	HP:0005484	Secondary microcephaly	HP:0040281	ORPHA:353284
2033	EP300	HP:0000518	Cataract	HP:0040284	ORPHA:353284
2033	EP300	HP:0000518	Cataract	-	OMIM:180849
2033	EP300	HP:0001845	Overlapping toe	1/2	OMIM:618333
2033	EP300	HP:0001840	Metatarsus adductus	-	OMIM:615777
2033	EP300	HP:0000527	Long eyelashes	6/6	OMIM:180849
2033	EP300	HP:0000527	Long eyelashes	9/11	OMIM:613684
2033	EP300	HP:0001852	Sandal gap	1/2	OMIM:618333
2033	EP300	HP:0000520	Proptosis	2/4	OMIM:131300
2033	EP300	HP:0000520	Proptosis	7/7	OMIM:615777
2033	EP300	HP:0000520	Proptosis	-	OMIM:180849
2033	EP300	HP:0000508	Ptosis	HP:0040282	ORPHA:353284
2033	EP300	HP:0000508	Ptosis	-	OMIM:180849
2033	EP300	HP:0000501	Glaucoma	HP:0040283	ORPHA:353284
2033	EP300	HP:0000501	Glaucoma	-	OMIM:180849
2033	EP300	HP:0000582	Upslanted palpebral fissure	2/2	OMIM:618333
2033	EP300	HP:0000581	Blepharophimosis	1/2	OMIM:618333
2033	EP300	HP:0000579	Nasolacrimal duct obstruction	1/1	OMIM:180849
2033	EP300	HP:0000579	Nasolacrimal duct obstruction	HP:0040283	ORPHA:353284
2033	EP300	HP:0000592	Blue sclerae	2/7	OMIM:615777
2033	EP300	HP:0011229	Broad eyebrow	6/6	OMIM:180849
2033	EP300	HP:0000589	Coloboma	-	OMIM:180849
2033	EP300	HP:0000589	Coloboma	HP:0040284	ORPHA:353284
2033	EP300	HP:0000589	Coloboma	0/7	OMIM:613684
2033	EP300	HP:0011220	Prominent forehead	1/2	OMIM:618333
2033	EP300	HP:0011220	Prominent forehead	1/1	OMIM:180849
2033	EP300	HP:0000559	Corneal scarring	HP:0040283	ORPHA:353284
2033	EP300	HP:0000574	Thick eyebrow	8/12	OMIM:613684
2033	EP300	HP:0000574	Thick eyebrow	-	OMIM:180849
2033	EP300	HP:0000540	Hypermetropia	HP:0040283	ORPHA:353284
2033	EP300	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2033	EP300	HP:0012514	Lower limb pain	4/4	OMIM:131300
2034	EPAS1	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0025269	Panic attack	HP:0040283	ORPHA:276621
2034	EPAS1	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:276621
2034	EPAS1	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0033644	Elevated circulating erythropoietin concentration	6/6	OMIM:611783
2034	EPAS1	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0000093	Proteinuria	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0002668	Paraganglioma	HP:0040281	ORPHA:276621
2034	EPAS1	HP:0001337	Tremor	HP:0040283	ORPHA:276621
2034	EPAS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:611783
2034	EPAS1	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0002625	Deep venous thrombosis	1/1	OMIM:611783
2034	EPAS1	HP:0031284	Flushing	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0002018	Nausea	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0100749	Chest pain	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0001962	Palpitations	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0001900	Increased circulating hemoglobin concentration	6/6	OMIM:611783
2034	EPAS1	HP:0001901	Polycythemia	1/1	OMIM:611783
2034	EPAS1	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0011462	Young adult onset	6/6	OMIM:611783
2034	EPAS1	HP:0000790	Hematuria	HP:0040283	ORPHA:276621
2034	EPAS1	HP:0000980	Pallor	HP:0040283	ORPHA:276621
2034	EPAS1	HP:0000989	Pruritus	2/5	OMIM:611783
2034	EPAS1	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0012378	Fatigue	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:276621
2034	EPAS1	HP:0001618	Dysphonia	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:276621
2034	EPAS1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:276621
2034	EPAS1	HP:0030248	Mesenteric venous thrombosis	1/5	OMIM:611783
2034	EPAS1	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:276621
2034	EPAS1	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:276621
2034	EPAS1	HP:0001824	Weight loss	HP:0040282	ORPHA:276621
2034	EPAS1	HP:0001899	Increased hematocrit	5/5	OMIM:611783
2035	EPB41	HP:0025143	Chills	HP:0040284	ORPHA:288
2035	EPB41	HP:0008897	Postnatal growth retardation	HP:0040284	ORPHA:288
2035	EPB41	HP:0000007	Autosomal recessive inheritance	-	OMIM:611804
2035	EPB41	HP:0000006	Autosomal dominant inheritance	-	OMIM:611804
2035	EPB41	HP:0002027	Abdominal pain	HP:0040284	ORPHA:288
2035	EPB41	HP:0002007	Frontal bossing	HP:0040284	ORPHA:288
2035	EPB41	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:288
2035	EPB41	HP:0004804	Congenital hemolytic anemia	HP:0040283	ORPHA:288
2035	EPB41	HP:0200042	Skin ulcer	HP:0040283	ORPHA:288
2035	EPB41	HP:0001081	Cholelithiasis	HP:0040284	ORPHA:288
2035	EPB41	HP:0005502	Increased red cell osmotic fragility	HP:0040282	ORPHA:288
2035	EPB41	HP:0001945	Fever	HP:0040284	ORPHA:288
2035	EPB41	HP:0001923	Reticulocytosis	HP:0040283	ORPHA:288
2035	EPB41	HP:0004446	Stomatocytosis	HP:0040283	ORPHA:288
2035	EPB41	HP:0004445	Elliptocytosis	HP:0040282	ORPHA:288
2035	EPB41	HP:0004445	Elliptocytosis	-	OMIM:611804
2035	EPB41	HP:0004447	Poikilocytosis	HP:0040283	ORPHA:288
2035	EPB41	HP:0003265	Neonatal hyperbilirubinemia	HP:0040283	ORPHA:288
2035	EPB41	HP:0000980	Pallor	-	OMIM:611804
2035	EPB41	HP:0000952	Jaundice	HP:0040283	ORPHA:288
2035	EPB41	HP:0000952	Jaundice	-	OMIM:611804
2035	EPB41	HP:0012378	Fatigue	HP:0040283	ORPHA:288
2035	EPB41	HP:0006579	Prolonged neonatal jaundice	HP:0040283	ORPHA:288
2035	EPB41	HP:0002904	Hyperbilirubinemia	HP:0040283	ORPHA:288
2035	EPB41	HP:0001789	Hydrops fetalis	HP:0040284	ORPHA:288
2035	EPB41	HP:0001744	Splenomegaly	HP:0040283	ORPHA:288
2035	EPB41	HP:0001744	Splenomegaly	-	OMIM:611804
2035	EPB41	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:288
2035	EPB41	HP:0001878	Hemolytic anemia	-	OMIM:611804
2035	EPB41	HP:0001877	Abnormal erythrocyte morphology	HP:0040280	ORPHA:288
2036	EPB41L1	HP:0001181	Adducted thumb	2/11	OMIM:614257
2036	EPB41L1	HP:0001156	Brachydactyly	3/11	OMIM:614257
2036	EPB41L1	HP:0010864	Intellectual disability, severe	1/1	OMIM:614257
2036	EPB41L1	HP:0001252	Hypotonia	5/11	OMIM:614257
2036	EPB41L1	HP:0001263	Global developmental delay	11/11	OMIM:614257
2036	EPB41L1	HP:0008872	Feeding difficulties in infancy	10/11	OMIM:614257
2036	EPB41L1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614257
2036	EPB41L1	HP:0002007	Frontal bossing	5/11	OMIM:614257
2036	EPB41L1	HP:0011800	Midface retrusion	8/11	OMIM:614257
2036	EPB41L1	HP:0000708	Atypical behavior	5/10	OMIM:614257
2036	EPB41L1	HP:0040019	Finger clinodactyly	6/11	OMIM:614257
2036	EPB41L1	HP:0001511	Intrauterine growth retardation	7/11	OMIM:614257
2036	EPB41L1	HP:0012385	Camptodactyly	4/11	OMIM:614257
2036	EPB41L1	HP:0000365	Hearing impairment	4/9	OMIM:614257
2036	EPB41L1	HP:0000348	High forehead	9/11	OMIM:614257
2036	EPB41L1	HP:0000316	Hypertelorism	4/11	OMIM:614257
2036	EPB41L1	HP:0000322	Short philtrum	5/11	OMIM:614257
2036	EPB41L1	HP:0000490	Deeply set eye	11/11	OMIM:614257
2036	EPB41L1	HP:0001775	Tarsal osteovalgus	7/11	OMIM:614257
2038	EPB42	HP:0025143	Chills	HP:0040283	ORPHA:822
2038	EPB42	HP:0001251	Ataxia	HP:0040283	ORPHA:822
2038	EPB42	HP:0001324	Muscle weakness	HP:0040282	ORPHA:822
2038	EPB42	HP:0000007	Autosomal recessive inheritance	-	OMIM:612690
2038	EPB42	HP:0002027	Abdominal pain	HP:0040283	ORPHA:822
2038	EPB42	HP:0003326	Myalgia	HP:0040283	ORPHA:822
2038	EPB42	HP:0011900	Hypofibrinogenemia	HP:0040282	ORPHA:822
2038	EPB42	HP:0011893	Abnormal leukocyte count	0/1	OMIM:612690
2038	EPB42	HP:0011873	Abnormal platelet count	0/1	OMIM:612690
2038	EPB42	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:822
2038	EPB42	HP:0100724	Hypercoagulability	HP:0040282	ORPHA:822
2038	EPB42	HP:0200042	Skin ulcer	HP:0040284	ORPHA:822
2038	EPB42	HP:0001081	Cholelithiasis	HP:0040282	ORPHA:822
2038	EPB42	HP:0005525	Spontaneous hemolytic crises	HP:0040282	ORPHA:822
2038	EPB42	HP:0005502	Increased red cell osmotic fragility	-	OMIM:612690
2038	EPB42	HP:0005502	Increased red cell osmotic fragility	HP:0040281	ORPHA:822
2038	EPB42	HP:0001978	Extramedullary hematopoiesis	HP:0040283	ORPHA:822
2038	EPB42	HP:0001945	Fever	HP:0040283	ORPHA:822
2038	EPB42	HP:0001923	Reticulocytosis	HP:0040282	ORPHA:822
2038	EPB42	HP:0001923	Reticulocytosis	1/1	OMIM:612690
2038	EPB42	HP:0001903	Anemia	HP:0040282	ORPHA:822
2038	EPB42	HP:0001997	Gout	HP:0040284	ORPHA:822
2038	EPB42	HP:0004444	Spherocytosis	-	OMIM:612690
2038	EPB42	HP:0004444	Spherocytosis	HP:0040282	ORPHA:822
2038	EPB42	HP:0003270	Abdominal distention	HP:0040284	ORPHA:822
2038	EPB42	HP:0000980	Pallor	HP:0040282	ORPHA:822
2038	EPB42	HP:0000952	Jaundice	HP:0040282	ORPHA:822
2038	EPB42	HP:0000952	Jaundice	1/1	OMIM:612690
2038	EPB42	HP:0040186	Maculopapular exanthema	HP:0040283	ORPHA:822
2038	EPB42	HP:0025548	Increased mean corpuscular hemoglobin concentration	HP:0040282	ORPHA:822
2038	EPB42	HP:0001510	Growth delay	HP:0040284	ORPHA:822
2038	EPB42	HP:0002904	Hyperbilirubinemia	HP:0040282	ORPHA:822
2038	EPB42	HP:0001723	Restrictive cardiomyopathy	HP:0040283	ORPHA:822
2038	EPB42	HP:0001744	Splenomegaly	HP:0040282	ORPHA:822
2038	EPB42	HP:0001744	Splenomegaly	1/1	OMIM:612690
2038	EPB42	HP:0001878	Hemolytic anemia	-	OMIM:612690
2048	EPHB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618462
2048	EPHB2	HP:0012125	Prostate cancer	-	OMIM:603688
2048	EPHB2	HP:0011889	Bleeding with minor or no trauma	2/2	OMIM:618462
2048	EPHB2	HP:0011870	Impaired arachidonic acid-induced platelet aggregation	2/2	OMIM:618462
2048	EPHB2	HP:0011871	Impaired ristocetin-induced platelet aggregation	0/2	OMIM:618462
2048	EPHB2	HP:0002239	Gastrointestinal hemorrhage	1/2	OMIM:618462
2048	EPHB2	HP:0004866	Impaired ADP-induced platelet aggregation	2/2	OMIM:618462
2048	EPHB2	HP:0008320	Impaired collagen-induced platelet aggregation	2/2	OMIM:618462
2048	EPHB2	HP:0001933	Subcutaneous hemorrhage	2/2	OMIM:618462
2048	EPHB2	HP:0100006	Neoplasm of the central nervous system	-	OMIM:603688
2048	EPHB2	HP:0011463	Childhood onset	1/1	OMIM:618462
2048	EPHB2	HP:0030138	Excessive bleeding from superficial cuts	2/2	OMIM:618462
2048	EPHB2	HP:0001873	Thrombocytopenia	1/2	OMIM:618462
2050	EPHB4	HP:0025104	Capillary malformation	1/1	OMIM:618196
2050	EPHB4	HP:0010880	Increased nuchal translucency	2/11	OMIM:617300
2050	EPHB4	HP:0003829	Typified by incomplete penetrance	-	OMIM:618196
2050	EPHB4	HP:0012027	Laryngeal edema	HP:0040283	ORPHA:90186
2050	EPHB4	HP:0007514	Edema of the dorsum of hands	HP:0040283	ORPHA:90186
2050	EPHB4	HP:0000006	Autosomal dominant inheritance	-	OMIM:618196
2050	EPHB4	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
2050	EPHB4	HP:0000006	Autosomal dominant inheritance	-	OMIM:617300
2050	EPHB4	HP:0002619	Varicose veins	HP:0040283	ORPHA:90186
2050	EPHB4	HP:0002619	Varicose veins	3/8	OMIM:617300
2050	EPHB4	HP:0002619	Varicose veins	-	OMIM:153400
2050	EPHB4	HP:0002617	Vascular dilatation	HP:0040282	ORPHA:1053
2050	EPHB4	HP:0000175	Cleft palate	5/39	OMIM:153400
2050	EPHB4	HP:0031288	Cobblestone-like hyperkeratosis	HP:0040282	ORPHA:90186
2050	EPHB4	HP:0002732	Lymph node hypoplasia	HP:0040282	ORPHA:90186
2050	EPHB4	HP:0100539	Periorbital edema	HP:0040283	ORPHA:90186
2050	EPHB4	HP:0002098	Respiratory distress	1/10	OMIM:617300
2050	EPHB4	HP:0100598	Pulmonary edema	-	OMIM:617300
2050	EPHB4	HP:0003593	Infantile onset	1/1	OMIM:618196
2050	EPHB4	HP:0003577	Congenital onset	11/11	OMIM:617300
2050	EPHB4	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
2050	EPHB4	HP:0003550	Predominantly lower limb lymphedema	HP:0040282	ORPHA:90186
2050	EPHB4	HP:0002202	Pleural effusion	6/9	OMIM:617300
2050	EPHB4	HP:0002202	Pleural effusion	HP:0040283	ORPHA:90186
2050	EPHB4	HP:0009743	Distichiasis	42/42	OMIM:153400
2050	EPHB4	HP:0100784	Peripheral arteriovenous fistula	HP:0040282	ORPHA:1053
2050	EPHB4	HP:0001009	Telangiectasia	-	OMIM:618196
2050	EPHB4	HP:0001004	Lymphedema	11/11	OMIM:617300
2050	EPHB4	HP:0001004	Lymphedema	HP:0040281	ORPHA:90186
2050	EPHB4	HP:0001004	Lymphedema	-	OMIM:153400
2050	EPHB4	HP:0100659	Abnormal cerebral vascular morphology	HP:0040281	ORPHA:1053
2050	EPHB4	HP:0100658	Cellulitis	HP:0040282	ORPHA:90186
2050	EPHB4	HP:0100658	Cellulitis	2/6	OMIM:153400
2050	EPHB4	HP:0200042	Skin ulcer	HP:0040283	ORPHA:90186
2050	EPHB4	HP:0200041	Skin erosion	HP:0040282	ORPHA:90186
2050	EPHB4	HP:0200058	Angiosarcoma	HP:0040283	ORPHA:90186
2050	EPHB4	HP:0010781	Skin dimple	HP:0040282	ORPHA:90186
2050	EPHB4	HP:0010741	Pedal edema	HP:0040282	ORPHA:90186
2050	EPHB4	HP:0000613	Photophobia	10/49	OMIM:153400
2050	EPHB4	HP:0001903	Anemia	3/10	OMIM:617300
2050	EPHB4	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
2050	EPHB4	HP:0000656	Ectropion	2/43	OMIM:153400
2050	EPHB4	HP:0003011	Abnormality of the musculature	-	OMIM:153400
2050	EPHB4	HP:0030713	Vein of Galen aneurysmal malformation	HP:0040284	OMIM:618196
2050	EPHB4	HP:0012804	Corneal ulceration	-	OMIM:153400
2050	EPHB4	HP:0003270	Abdominal distention	-	OMIM:617300
2050	EPHB4	HP:0010310	Chylothorax	6/10	OMIM:617300
2050	EPHB4	HP:0010310	Chylothorax	1/6	OMIM:153400
2050	EPHB4	HP:0000987	Atypical scarring of skin	HP:0040282	ORPHA:90186
2050	EPHB4	HP:0000969	Edema	-	OMIM:617300
2050	EPHB4	HP:0011675	Arrhythmia	-	OMIM:153400
2050	EPHB4	HP:0000282	Facial edema	HP:0040283	ORPHA:90186
2050	EPHB4	HP:0000282	Facial edema	-	OMIM:617300
2050	EPHB4	HP:0002808	Kyphosis	2/5	OMIM:153400
2050	EPHB4	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:90186
2050	EPHB4	HP:0001541	Ascites	2/10	OMIM:617300
2050	EPHB4	HP:0000204	Cleft upper lip	-	OMIM:153400
2050	EPHB4	HP:0002849	Absence of lymph node germinal center	HP:0040282	ORPHA:90186
2050	EPHB4	HP:0012398	Peripheral edema	HP:0040283	ORPHA:90186
2050	EPHB4	HP:0001698	Pericardial effusion	1/9	OMIM:617300
2050	EPHB4	HP:0000347	Micrognathia	2/5	OMIM:153400
2050	EPHB4	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
2050	EPHB4	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
2050	EPHB4	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
2050	EPHB4	HP:0001631	Atrial septal defect	6/11	OMIM:617300
2050	EPHB4	HP:0000476	Cystic hygroma	2/43	OMIM:153400
2050	EPHB4	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
2050	EPHB4	HP:0001790	Nonimmune hydrops fetalis	6/11	OMIM:617300
2050	EPHB4	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
2050	EPHB4	HP:0000465	Webbed neck	6/43	OMIM:153400
2050	EPHB4	HP:0005406	Recurrent bacterial skin infections	HP:0040282	ORPHA:90186
2050	EPHB4	HP:0000509	Conjunctivitis	-	OMIM:153400
2050	EPHB4	HP:0000508	Ptosis	2/39	OMIM:153400
2050	EPHB4	HP:0000568	Microphthalmia	1/6	OMIM:153400
2053	EPHX2	HP:0001114	Xanthelasma	-	OMIM:143890
2053	EPHX2	HP:0010874	Tendon xanthomatosis	-	OMIM:143890
2053	EPHX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:143890
2053	EPHX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:143890
2053	EPHX2	HP:0001084	Corneal arcus	-	OMIM:143890
2053	EPHX2	HP:0003141	Increased LDL cholesterol concentration	-	OMIM:143890
2053	EPHX2	HP:0001677	Coronary artery atherosclerosis	-	OMIM:143890
2055	CLN8	HP:0001272	Cerebellar atrophy	HP:0040281	ORPHA:1947
2055	CLN8	HP:0001272	Cerebellar atrophy	-	OMIM:600143
2055	CLN8	HP:0001272	Cerebellar atrophy	-	OMIM:610003
2055	CLN8	HP:0001268	Mental deterioration	-	OMIM:610003
2055	CLN8	HP:0001250	Seizure	6/6	OMIM:600143
2055	CLN8	HP:0001250	Seizure	HP:0040281	ORPHA:1947
2055	CLN8	HP:0001251	Ataxia	5/5	OMIM:600143
2055	CLN8	HP:0001251	Ataxia	HP:0040282	ORPHA:1947
2055	CLN8	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1947
2055	CLN8	HP:0001249	Intellectual disability	-	OMIM:610003
2055	CLN8	HP:0001263	Global developmental delay	HP:0040283	ORPHA:1947
2055	CLN8	HP:0002540	Inability to walk	HP:0040281	ORPHA:1947
2055	CLN8	HP:0002510	Spastic tetraplegia	HP:0040282	ORPHA:1947
2055	CLN8	HP:0002505	Loss of ambulation	3/3	OMIM:600143
2055	CLN8	HP:0000007	Autosomal recessive inheritance	-	OMIM:600143
2055	CLN8	HP:0000007	Autosomal recessive inheritance	-	OMIM:610003
2055	CLN8	HP:0001336	Myoclonus	4/4	OMIM:600143
2055	CLN8	HP:0002015	Dysphagia	HP:0040283	ORPHA:1947
2055	CLN8	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:1947
2055	CLN8	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:610003
2055	CLN8	HP:0002066	Gait ataxia	HP:0040282	ORPHA:1947
2055	CLN8	HP:0002074	Increased neuronal autofluorescent lipopigment	-	OMIM:600143
2055	CLN8	HP:0002074	Increased neuronal autofluorescent lipopigment	-	OMIM:610003
2055	CLN8	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:1947
2055	CLN8	HP:0002059	Cerebral atrophy	-	OMIM:600143
2055	CLN8	HP:0002059	Cerebral atrophy	-	OMIM:610003
2055	CLN8	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:1947
2055	CLN8	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:1947
2055	CLN8	HP:0002384	Focal impaired awareness seizure	-	OMIM:610003
2055	CLN8	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:1947
2055	CLN8	HP:0003698	Difficulty standing	HP:0040282	ORPHA:1947
2055	CLN8	HP:0002359	Frequent falls	HP:0040283	ORPHA:1947
2055	CLN8	HP:0002376	Developmental regression	6/6	OMIM:600143
2055	CLN8	HP:0002371	Loss of speech	HP:0040282	ORPHA:1947
2055	CLN8	HP:0002353	EEG abnormality	-	OMIM:610003
2055	CLN8	HP:0002353	EEG abnormality	-	OMIM:600143
2055	CLN8	HP:0003677	Slowly progressive	-	OMIM:610003
2055	CLN8	HP:0002317	Unsteady gait	HP:0040282	ORPHA:1947
2055	CLN8	HP:0002333	Motor deterioration	HP:0040282	ORPHA:1947
2055	CLN8	HP:0003657	Vascular granular osmiophilic material deposition	HP:0040281	ORPHA:1947
2055	CLN8	HP:0002312	Clumsiness	-	OMIM:610003
2055	CLN8	HP:0002312	Clumsiness	HP:0040282	ORPHA:1947
2055	CLN8	HP:0003621	Juvenile onset	5/6	OMIM:600143
2055	CLN8	HP:0030455	Abnormality of pattern visual evoked potentials	HP:0040282	ORPHA:1947
2055	CLN8	HP:0012690	T2 hypointense thalamus	HP:0040283	ORPHA:1947
2055	CLN8	HP:0000737	Irritability	-	OMIM:610003
2055	CLN8	HP:0000750	Delayed speech and language development	-	OMIM:600143
2055	CLN8	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:1947
2055	CLN8	HP:0000711	Restlessness	-	OMIM:610003
2055	CLN8	HP:0000726	Dementia	HP:0040283	ORPHA:1947
2055	CLN8	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1947
2055	CLN8	HP:0000708	Atypical behavior	HP:0040283	ORPHA:1947
2055	CLN8	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:1947
2055	CLN8	HP:0011463	Childhood onset	1/6	OMIM:600143
2055	CLN8	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	6/6	OMIM:600143
2055	CLN8	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	HP:0040282	ORPHA:1947
2055	CLN8	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	HP:0040281	ORPHA:1947
2055	CLN8	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	-	OMIM:600143
2055	CLN8	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	-	OMIM:610003
2055	CLN8	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	HP:0040282	ORPHA:1947
2055	CLN8	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040283	ORPHA:1947
2055	CLN8	HP:0033044	Motor regression	HP:0040282	ORPHA:1947
2055	CLN8	HP:0005268	Miscarriage	HP:0040282	ORPHA:1947
2055	CLN8	HP:0011198	EEG with generalized epileptiform discharges	HP:0040282	ORPHA:1947
2055	CLN8	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1947
2055	CLN8	HP:0000529	Progressive visual loss	6/6	OMIM:600143
2055	CLN8	HP:0000505	Visual impairment	HP:0040281	ORPHA:1947
2055	CLN8	HP:0011203	EEG with abnormally slow frequencies	HP:0040282	ORPHA:1947
2055	CLN8	HP:0000550	Undetectable electroretinogram	HP:0040282	ORPHA:1947
2055	CLN8	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1947
2056	EPO	HP:0033644	Elevated circulating erythropoietin concentration	-	OMIM:617907
2056	EPO	HP:0000007	Autosomal recessive inheritance	-	OMIM:617911
2056	EPO	HP:0000006	Autosomal dominant inheritance	-	OMIM:617907
2056	EPO	HP:0003593	Infantile onset	-	OMIM:617911
2056	EPO	HP:0001900	Increased circulating hemoglobin concentration	-	OMIM:617907
2056	EPO	HP:0001901	Polycythemia	-	OMIM:617907
2056	EPO	HP:0033074	Steroid-responsive anemia	1/1	OMIM:617911
2056	EPO	HP:0012410	Pure red cell aplasia	1/1	OMIM:617911
2056	EPO	HP:0001899	Increased hematocrit	-	OMIM:617907
2057	EPOR	HP:0001342	Cerebral hemorrhage	-	OMIM:133100
2057	EPOR	HP:0000006	Autosomal dominant inheritance	-	OMIM:133100
2057	EPOR	HP:0002641	Peripheral thrombosis	-	OMIM:133100
2057	EPOR	HP:0002027	Abdominal pain	HP:0040282	ORPHA:90042
2057	EPOR	HP:0002094	Dyspnea	HP:0040281	ORPHA:90042
2057	EPOR	HP:0011902	Abnormal hemoglobin	HP:0040281	ORPHA:90042
2057	EPOR	HP:0001050	Plethora	-	OMIM:133100
2057	EPOR	HP:0002321	Vertigo	HP:0040281	ORPHA:90042
2057	EPOR	HP:0002321	Vertigo	-	OMIM:133100
2057	EPOR	HP:0002315	Headache	-	OMIM:133100
2057	EPOR	HP:0002315	Headache	HP:0040281	ORPHA:90042
2057	EPOR	HP:0004936	Venous thrombosis	HP:0040281	ORPHA:90042
2057	EPOR	HP:0001907	Thromboembolism	HP:0040283	ORPHA:90042
2057	EPOR	HP:0001900	Increased circulating hemoglobin concentration	33/33	OMIM:133100
2057	EPOR	HP:0001901	Polycythemia	HP:0040281	ORPHA:90042
2057	EPOR	HP:0012735	Cough	HP:0040283	ORPHA:90042
2057	EPOR	HP:0000822	Hypertension	-	OMIM:133100
2057	EPOR	HP:0000989	Pruritus	HP:0040282	ORPHA:90042
2057	EPOR	HP:0002829	Arthralgia	HP:0040282	ORPHA:90042
2057	EPOR	HP:0002875	Exertional dyspnea	-	OMIM:133100
2057	EPOR	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:90042
2057	EPOR	HP:0012378	Fatigue	-	OMIM:133100
2057	EPOR	HP:0012378	Fatigue	HP:0040281	ORPHA:90042
2057	EPOR	HP:0001658	Myocardial infarction	-	OMIM:133100
2057	EPOR	HP:0001744	Splenomegaly	-	OMIM:133100
2057	EPOR	HP:0000421	Epistaxis	HP:0040281	ORPHA:90042
2057	EPOR	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:90042
2057	EPOR	HP:0001899	Increased hematocrit	33/33	OMIM:133100
2057	EPOR	HP:0001898	Increased red blood cell mass	-	OMIM:133100
2058	EPRS1	HP:0007256	Abnormal pyramidal sign	1/4	OMIM:617951
2058	EPRS1	HP:0002415	Leukodystrophy	4/4	OMIM:617951
2058	EPRS1	HP:0001272	Cerebellar atrophy	2/4	OMIM:617951
2058	EPRS1	HP:0001270	Motor delay	1/4	OMIM:617951
2058	EPRS1	HP:0001250	Seizure	1/4	OMIM:617951
2058	EPRS1	HP:0001251	Ataxia	4/4	OMIM:617951
2058	EPRS1	HP:0001260	Dysarthria	2/4	OMIM:617951
2058	EPRS1	HP:0001263	Global developmental delay	-	OMIM:617951
2058	EPRS1	HP:0001257	Spasticity	2/4	OMIM:617951
2058	EPRS1	HP:0002505	Loss of ambulation	1/4	OMIM:617951
2058	EPRS1	HP:0001332	Dystonia	4/4	OMIM:617951
2058	EPRS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617951
2058	EPRS1	HP:0002015	Dysphagia	3/4	OMIM:617951
2058	EPRS1	HP:0002080	Intention tremor	2/4	OMIM:617951
2058	EPRS1	HP:0002079	Hypoplasia of the corpus callosum	4/4	OMIM:617951
2058	EPRS1	HP:0002059	Cerebral atrophy	4/4	OMIM:617951
2058	EPRS1	HP:0003429	CNS hypomyelination	4/4	OMIM:617951
2058	EPRS1	HP:0010528	Prosopagnosia	1/4	OMIM:617951
2058	EPRS1	HP:0003593	Infantile onset	2/4	OMIM:617951
2058	EPRS1	HP:0011968	Feeding difficulties	-	OMIM:617951
2058	EPRS1	HP:0003510	Severe short stature	1/4	OMIM:617951
2058	EPRS1	HP:0002376	Developmental regression	4/4	OMIM:617951
2058	EPRS1	HP:0003676	Progressive	-	OMIM:617951
2058	EPRS1	HP:0033454	Tube feeding	1/4	OMIM:617951
2058	EPRS1	HP:0002305	Athetosis	1/4	OMIM:617951
2058	EPRS1	HP:0003621	Juvenile onset	1/4	OMIM:617951
2058	EPRS1	HP:0000639	Nystagmus	2/4	OMIM:617951
2058	EPRS1	HP:0000646	Amblyopia	1/4	OMIM:617951
2058	EPRS1	HP:0000648	Optic atrophy	3/4	OMIM:617951
2058	EPRS1	HP:0011463	Childhood onset	1/4	OMIM:617951
2058	EPRS1	HP:0034332	Cognitive regression	4/4	OMIM:617951
2058	EPRS1	HP:0033044	Motor regression	3/4	OMIM:617951
2058	EPRS1	HP:0000252	Microcephaly	1/4	OMIM:617951
2058	EPRS1	HP:0001508	Failure to thrive	1/4	OMIM:617951
2058	EPRS1	HP:0000407	Sensorineural hearing impairment	1/4	OMIM:617951
2058	EPRS1	HP:0000529	Progressive visual loss	-	OMIM:617951
2058	EPRS1	HP:0000572	Visual loss	1/4	OMIM:617951
2058	EPRS1	HP:0000540	Hypermetropia	1/4	OMIM:617951
2059	EPS8	HP:0000007	Autosomal recessive inheritance	-	OMIM:615974
2059	EPS8	HP:0003577	Congenital onset	-	OMIM:615974
2059	EPS8	HP:0012715	Profound hearing impairment	-	OMIM:615974
2064	ERBB2	HP:0100806	Sepsis	HP:0040283	ORPHA:388
2064	ERBB2	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:99976
2064	ERBB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619465
2064	ERBB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:137800
2064	ERBB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:167000
2064	ERBB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:211980
2064	ERBB2	HP:0012174	Glioblastoma multiforme	-	OMIM:137800
2064	ERBB2	HP:0012126	Stomach cancer	-	OMIM:613659
2064	ERBB2	HP:0410067	Increased level of L-fucose in urine	-	OMIM:613659
2064	ERBB2	HP:0001442	Typified by somatic mosaicism	-	OMIM:137800
2064	ERBB2	HP:0001442	Typified by somatic mosaicism	-	OMIM:167000
2064	ERBB2	HP:0001442	Typified by somatic mosaicism	-	OMIM:613659
2064	ERBB2	HP:0001442	Typified by somatic mosaicism	-	OMIM:211980
2064	ERBB2	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:99976
2064	ERBB2	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:99976
2064	ERBB2	HP:0002019	Constipation	HP:0040281	ORPHA:388
2064	ERBB2	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:388
2064	ERBB2	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:99976
2064	ERBB2	HP:0002027	Abdominal pain	HP:0040281	ORPHA:388
2064	ERBB2	HP:0002014	Diarrhea	HP:0040283	ORPHA:388
2064	ERBB2	HP:0100580	Barrett esophagus	HP:0040281	ORPHA:99976
2064	ERBB2	HP:0003477	Peripheral axonal neuropathy	2/2	OMIM:619465
2064	ERBB2	HP:6000224	Delayed passage of meconium	HP:0040282	ORPHA:388
2064	ERBB2	HP:0009592	Astrocytoma	-	OMIM:137800
2064	ERBB2	HP:0003593	Infantile onset	2/2	OMIM:619465
2064	ERBB2	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:388
2064	ERBB2	HP:0100749	Chest pain	HP:0040282	ORPHA:99976
2064	ERBB2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:388
2064	ERBB2	HP:0100621	Dysgerminoma	-	OMIM:167000
2064	ERBB2	HP:0034754	Bilious emesis	HP:0040282	ORPHA:388
2064	ERBB2	HP:0004322	Short stature	HP:0040283	ORPHA:388
2064	ERBB2	HP:0003002	Breast carcinoma	-	OMIM:167000
2064	ERBB2	HP:0004387	Enterocolitis	HP:0040283	ORPHA:388
2064	ERBB2	HP:0012735	Cough	HP:0040282	ORPHA:99976
2064	ERBB2	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040281	ORPHA:388
2064	ERBB2	HP:0011459	Esophageal carcinoma	HP:0040281	ORPHA:99976
2064	ERBB2	HP:0003270	Abdominal distention	HP:0040282	ORPHA:388
2064	ERBB2	HP:0030078	Lung adenocarcinoma	-	OMIM:211980
2064	ERBB2	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:388
2064	ERBB2	HP:0002888	Ependymoma	-	OMIM:137800
2064	ERBB2	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:388
2064	ERBB2	HP:0031369	Colon perforation	HP:0040283	ORPHA:388
2064	ERBB2	HP:0001510	Growth delay	HP:0040283	ORPHA:388
2064	ERBB2	HP:0001513	Obesity	HP:0040281	ORPHA:99976
2064	ERBB2	HP:0005214	Intestinal obstruction	HP:0040281	ORPHA:388
2064	ERBB2	HP:0006519	Alveolar cell carcinoma	-	OMIM:211980
2064	ERBB2	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:619465
2064	ERBB2	HP:0012450	Chronic constipation	2/2	OMIM:619465
2064	ERBB2	HP:0001762	Talipes equinovarus	2/2	OMIM:619465
2064	ERBB2	HP:0011284	Short-segment aganglionic megacolon	2/2	OMIM:619465
2064	ERBB2	HP:0006774	Ovarian papillary adenocarcinoma	-	OMIM:167000
2064	ERBB2	HP:0001824	Weight loss	HP:0040282	ORPHA:388
2064	ERBB2	HP:0000508	Ptosis	2/2	OMIM:619465
2064	ERBB2	HP:0030358	Non-small cell lung carcinoma	-	OMIM:211980
2064	ERBB2	HP:0001864	Clinodactyly of the 5th toe	HP:0040281	ORPHA:99976
2065	ERBB3	HP:0002495	Impaired vibratory sensation	-	OMIM:243180
2065	ERBB3	HP:0100806	Sepsis	HP:0040283	ORPHA:388
2065	ERBB3	HP:0001284	Areflexia	-	OMIM:243180
2065	ERBB3	HP:0001260	Dysarthria	-	OMIM:243180
2065	ERBB3	HP:0002574	Episodic abdominal pain	-	OMIM:243180
2065	ERBB3	HP:0002566	Intestinal malrotation	-	OMIM:243180
2065	ERBB3	HP:0003829	Typified by incomplete penetrance	-	OMIM:133180
2065	ERBB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:243180
2065	ERBB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:607598
2065	ERBB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:133180
2065	ERBB3	HP:0032466	Aplasia of the olfactory bulb	3/4	OMIM:243180
2065	ERBB3	HP:0012132	Erythroid hyperplasia	-	OMIM:133180
2065	ERBB3	HP:0000126	Hydronephrosis	-	OMIM:607598
2065	ERBB3	HP:0002019	Constipation	HP:0040281	ORPHA:388
2065	ERBB3	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:388
2065	ERBB3	HP:0002027	Abdominal pain	HP:0040281	ORPHA:388
2065	ERBB3	HP:0002014	Diarrhea	HP:0040283	ORPHA:388
2065	ERBB3	HP:0002013	Vomiting	-	OMIM:243180
2065	ERBB3	HP:0002066	Gait ataxia	-	OMIM:243180
2065	ERBB3	HP:6000224	Delayed passage of meconium	HP:0040282	ORPHA:388
2065	ERBB3	HP:0002240	Hepatomegaly	-	OMIM:133180
2065	ERBB3	HP:0002253	Colonic diverticula	-	OMIM:243180
2065	ERBB3	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:388
2065	ERBB3	HP:0002251	Aganglionic megacolon	5/5	OMIM:243180
2065	ERBB3	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:388
2065	ERBB3	HP:0004828	Refractory anemia with ringed sideroblasts	20/20	OMIM:133180
2065	ERBB3	HP:0004808	Acute myeloid leukemia	-	OMIM:133180
2065	ERBB3	HP:0010831	Impaired proprioception	-	OMIM:243180
2065	ERBB3	HP:0009830	Peripheral neuropathy	1/3	OMIM:243180
2065	ERBB3	HP:0002304	Akinesia	-	OMIM:607598
2065	ERBB3	HP:0034754	Bilious emesis	HP:0040282	ORPHA:388
2065	ERBB3	HP:0001909	Leukemia	-	OMIM:133180
2065	ERBB3	HP:0001903	Anemia	-	OMIM:133180
2065	ERBB3	HP:0004322	Short stature	HP:0040283	ORPHA:388
2065	ERBB3	HP:0004389	Intestinal pseudo-obstruction	1/3	OMIM:243180
2065	ERBB3	HP:0004387	Enterocolitis	HP:0040283	ORPHA:388
2065	ERBB3	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040281	ORPHA:388
2065	ERBB3	HP:0003202	Skeletal muscle atrophy	-	OMIM:607598
2065	ERBB3	HP:0003270	Abdominal distention	HP:0040282	ORPHA:388
2065	ERBB3	HP:0000969	Edema	-	OMIM:607598
2065	ERBB3	HP:0002804	Arthrogryposis multiplex congenita	3/6	OMIM:243180
2065	ERBB3	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:607598
2065	ERBB3	HP:0002878	Respiratory failure	-	OMIM:607598
2065	ERBB3	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:388
2065	ERBB3	HP:0001561	Polyhydramnios	-	OMIM:607598
2065	ERBB3	HP:0001558	Decreased fetal movement	-	OMIM:607598
2065	ERBB3	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:388
2065	ERBB3	HP:0031369	Colon perforation	HP:0040283	ORPHA:388
2065	ERBB3	HP:0001510	Growth delay	HP:0040283	ORPHA:388
2065	ERBB3	HP:0005249	Functional intestinal obstruction	-	OMIM:243180
2065	ERBB3	HP:0005214	Intestinal obstruction	HP:0040281	ORPHA:388
2065	ERBB3	HP:0000365	Hearing impairment	3/3	OMIM:243180
2065	ERBB3	HP:0011003	High myopia	-	OMIM:607598
2065	ERBB3	HP:0012332	Abnormal autonomic nervous system physiology	1/3	OMIM:243180
2065	ERBB3	HP:0000347	Micrognathia	-	OMIM:607598
2065	ERBB3	HP:0001644	Dilated cardiomyopathy	HP:0040283	OMIM:607598
2065	ERBB3	HP:0001629	Ventricular septal defect	HP:0040283	OMIM:607598
2065	ERBB3	HP:0007964	Degenerative vitreoretinopathy	-	OMIM:607598
2065	ERBB3	HP:0000413	Atresia of the external auditory canal	6/6	OMIM:243180
2065	ERBB3	HP:0001744	Splenomegaly	-	OMIM:133180
2065	ERBB3	HP:0001824	Weight loss	HP:0040282	ORPHA:388
2065	ERBB3	HP:0000508	Ptosis	2/3	OMIM:243180
2065	ERBB3	HP:0001873	Thrombocytopenia	-	OMIM:133180
2066	ERBB4	HP:0002463	Language impairment	HP:0040283	ORPHA:803
2066	ERBB4	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
2066	ERBB4	HP:0001257	Spasticity	HP:0040282	ORPHA:803
2066	ERBB4	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
2066	ERBB4	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:615515
2066	ERBB4	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
2066	ERBB4	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
2066	ERBB4	HP:0002505	Loss of ambulation	6/6	OMIM:615515
2066	ERBB4	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
2066	ERBB4	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
2066	ERBB4	HP:0000006	Autosomal dominant inheritance	-	OMIM:615515
2066	ERBB4	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
2066	ERBB4	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
2066	ERBB4	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
2066	ERBB4	HP:0002747	Respiratory insufficiency due to muscle weakness	2/6	OMIM:615515
2066	ERBB4	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
2066	ERBB4	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
2066	ERBB4	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
2066	ERBB4	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
2066	ERBB4	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
2066	ERBB4	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
2066	ERBB4	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
2066	ERBB4	HP:0003470	Paralysis	HP:0040282	ORPHA:803
2066	ERBB4	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
2066	ERBB4	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
2066	ERBB4	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
2066	ERBB4	HP:0003596	Middle age onset	2/6	OMIM:615515
2066	ERBB4	HP:0003584	Late onset	4/6	OMIM:615515
2066	ERBB4	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
2066	ERBB4	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
2066	ERBB4	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
2066	ERBB4	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
2066	ERBB4	HP:0002307	Drooling	HP:0040282	ORPHA:803
2066	ERBB4	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
2066	ERBB4	HP:0004326	Cachexia	HP:0040283	ORPHA:803
2066	ERBB4	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
2066	ERBB4	HP:0000739	Anxiety	HP:0040282	ORPHA:803
2066	ERBB4	HP:0000716	Depression	HP:0040282	ORPHA:803
2066	ERBB4	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
2066	ERBB4	HP:0000726	Dementia	0/3	OMIM:615515
2066	ERBB4	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
2066	ERBB4	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
2066	ERBB4	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
2066	ERBB4	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
2066	ERBB4	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
2066	ERBB4	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
2066	ERBB4	HP:0012378	Fatigue	HP:0040282	ORPHA:803
2066	ERBB4	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
2066	ERBB4	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
2066	ERBB4	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
2066	ERBB4	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
2066	ERBB4	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
2066	ERBB4	HP:0001824	Weight loss	HP:0040282	ORPHA:803
2066	ERBB4	HP:0012531	Pain	HP:0040282	ORPHA:803
2067	ERCC1	HP:0001181	Adducted thumb	1/1	OMIM:610758
2067	ERCC1	HP:0009879	Simplified gyral pattern	1/1	OMIM:610758
2067	ERCC1	HP:0001276	Hypertonia	1/1	OMIM:610758
2067	ERCC1	HP:0001276	Hypertonia	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:90322
2067	ERCC1	HP:0001250	Seizure	HP:0040282	ORPHA:1466
2067	ERCC1	HP:0001252	Hypotonia	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0001251	Ataxia	HP:0040282	ORPHA:90322
2067	ERCC1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:90322
2067	ERCC1	HP:0001263	Global developmental delay	1/1	OMIM:610758
2067	ERCC1	HP:0001239	Wrist flexion contracture	1/1	OMIM:610758
2067	ERCC1	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0007346	Subcortical white matter calcifications	HP:0040281	ORPHA:90322
2067	ERCC1	HP:0010978	Abnormality of immune system physiology	HP:0040282	ORPHA:1466
2067	ERCC1	HP:0002545	Patchy demyelination of subcortical white matter	HP:0040281	ORPHA:90322
2067	ERCC1	HP:0002514	Cerebral calcification	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0002509	Limb hypertonia	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0003819	Death in childhood	1/1	OMIM:610758
2067	ERCC1	HP:0000078	Abnormality of the genital system	0/1	OMIM:610758
2067	ERCC1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0001348	Brisk reflexes	1/1	OMIM:610758
2067	ERCC1	HP:0001347	Hyperreflexia	1/1	OMIM:610758
2067	ERCC1	HP:0000026	Male hypogonadism	HP:0040284	ORPHA:90322
2067	ERCC1	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:90322
2067	ERCC1	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:610758
2067	ERCC1	HP:0002650	Scoliosis	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:610758
2067	ERCC1	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:1466
2067	ERCC1	HP:0000135	Hypogonadism	HP:0040282	ORPHA:1466
2067	ERCC1	HP:0006334	Hypoplasia of the primary teeth	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0006313	Widely spaced primary teeth	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0007633	Bilateral microphthalmos	1/1	OMIM:610758
2067	ERCC1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0002751	Kyphoscoliosis	1/1	OMIM:610758
2067	ERCC1	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0010455	Steep acetabular roof	1/1	OMIM:610758
2067	ERCC1	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0002126	Polymicrogyria	1/1	OMIM:610758
2067	ERCC1	HP:0002172	Postural instability	HP:0040282	ORPHA:90322
2067	ERCC1	HP:0100490	Camptodactyly of finger	1/1	OMIM:610758
2067	ERCC1	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0003593	Infantile onset	1/1	OMIM:610758
2067	ERCC1	HP:0003577	Congenital onset	1/1	OMIM:610758
2067	ERCC1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0001034	Hypermelanotic macule	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0002353	EEG abnormality	1/1	OMIM:610758
2067	ERCC1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:1466
2067	ERCC1	HP:0100699	Scarring	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0000639	Nystagmus	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0000639	Nystagmus	1/1	OMIM:610758
2067	ERCC1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1466
2067	ERCC1	HP:0000613	Photophobia	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0000680	Delayed eruption of primary teeth	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0000674	Anodontia	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:90322
2067	ERCC1	HP:0004325	Decreased body weight	-	OMIM:610758
2067	ERCC1	HP:0004322	Short stature	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0004322	Short stature	-	OMIM:610758
2067	ERCC1	HP:0003083	Dislocated radial head	1/1	OMIM:610758
2067	ERCC1	HP:0003015	Flared metaphysis	1/1	OMIM:610758
2067	ERCC1	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:90322
2067	ERCC1	HP:0003100	Slender long bone	1/1	OMIM:610758
2067	ERCC1	HP:0000925	Abnormality of the vertebral column	0/1	OMIM:610758
2067	ERCC1	HP:0005830	Flexion contracture of toe	-	OMIM:610758
2067	ERCC1	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:1466
2067	ERCC1	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:1466
2067	ERCC1	HP:0000276	Long face	HP:0040282	ORPHA:90322
2067	ERCC1	HP:0005105	Abnormal nasal morphology	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0002827	Hip dislocation	1/1	OMIM:610758
2067	ERCC1	HP:0002808	Kyphosis	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0002804	Arthrogryposis multiplex congenita	1/1	OMIM:610758
2067	ERCC1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0006380	Knee flexion contracture	1/1	OMIM:610758
2067	ERCC1	HP:0000252	Microcephaly	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0000252	Microcephaly	2/2	OMIM:610758
2067	ERCC1	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0001531	Failure to thrive in infancy	1/1	OMIM:610758
2067	ERCC1	HP:0001522	Death in infancy	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:90322
2067	ERCC1	HP:0001511	Intrauterine growth retardation	1/1	OMIM:610758
2067	ERCC1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1466
2067	ERCC1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0000358	Posteriorly rotated ears	1/1	OMIM:610758
2067	ERCC1	HP:0000369	Low-set ears	1/1	OMIM:610758
2067	ERCC1	HP:0000347	Micrognathia	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0000347	Micrognathia	2/2	OMIM:610758
2067	ERCC1	HP:0000331	Short chin	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0002987	Elbow flexion contracture	1/1	OMIM:610758
2067	ERCC1	HP:0000322	Short philtrum	1/1	OMIM:610758
2067	ERCC1	HP:0001627	Abnormal heart morphology	0/1	OMIM:610758
2067	ERCC1	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:90322
2067	ERCC1	HP:0005328	Progeroid facial appearance	HP:0040282	ORPHA:90322
2067	ERCC1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:1466
2067	ERCC1	HP:0000400	Macrotia	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0000486	Strabismus	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0000479	Abnormal retinal morphology	0/1	OMIM:610758
2067	ERCC1	HP:0000490	Deeply set eye	1/1	OMIM:610758
2067	ERCC1	HP:0000470	Short neck	HP:0040282	ORPHA:1466
2067	ERCC1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0000426	Prominent nasal bridge	1/1	OMIM:610758
2067	ERCC1	HP:0005487	Prominent metopic ridge	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0005458	Premature closure of fontanelles	1/1	OMIM:610758
2067	ERCC1	HP:0000518	Cataract	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0000519	Developmental cataract	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0000528	Anophthalmia	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0001838	Rocker bottom foot	1/1	OMIM:610758
2067	ERCC1	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0000505	Visual impairment	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0000505	Visual impairment	HP:0040282	ORPHA:1466
2067	ERCC1	HP:0000581	Blepharophimosis	1/1	OMIM:610758
2067	ERCC1	HP:0000554	Uveitis	HP:0040283	ORPHA:90322
2067	ERCC1	HP:0000568	Microphthalmia	HP:0040281	ORPHA:1466
2067	ERCC1	HP:0001883	Talipes	HP:0040283	ORPHA:1466
2068	ERCC2	HP:0003777	Pili torti	11/11	OMIM:601675
2068	ERCC2	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001197	Abnormality of prenatal development or birth	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0410219	Hypoplasia of mandible relative to maxilla	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0007266	Cerebral dysmyelination	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0009886	Trichorrhexis nodosa	11/11	OMIM:601675
2068	ERCC2	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001276	Hypertonia	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001276	Hypertonia	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0001268	Mental deterioration	-	OMIM:278730
2068	ERCC2	HP:0001289	Confusion	HP:0040282	ORPHA:220295
2068	ERCC2	HP:0001250	Seizure	HP:0040282	ORPHA:1466
2068	ERCC2	HP:0001250	Seizure	HP:0040283	ORPHA:910
2068	ERCC2	HP:0001252	Hypotonia	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0001251	Ataxia	HP:0040283	ORPHA:910
2068	ERCC2	HP:0001251	Ataxia	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0001251	Ataxia	-	OMIM:278730
2068	ERCC2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0001249	Intellectual disability	-	OMIM:601675
2068	ERCC2	HP:0001249	Intellectual disability	-	OMIM:278730
2068	ERCC2	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001265	Hyporeflexia	-	OMIM:278730
2068	ERCC2	HP:0001266	Choreoathetosis	-	OMIM:278730
2068	ERCC2	HP:0001260	Dysarthria	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001260	Dysarthria	HP:0040282	ORPHA:220295
2068	ERCC2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001263	Global developmental delay	1/1	OMIM:610756
2068	ERCC2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:220295
2068	ERCC2	HP:0001257	Spasticity	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001257	Spasticity	HP:0040283	ORPHA:910
2068	ERCC2	HP:0001257	Spasticity	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0001257	Spasticity	-	OMIM:278730
2068	ERCC2	HP:0002562	Low-set nipples	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:910
2068	ERCC2	HP:0007381	Congenital exfoliative erythroderma	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0010978	Abnormality of immune system physiology	HP:0040282	ORPHA:1466
2068	ERCC2	HP:0001217	Clubbing	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0002514	Cerebral calcification	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0003819	Death in childhood	2/2	OMIM:610756
2068	ERCC2	HP:0000046	Small scrotum	1/1	OMIM:610756
2068	ERCC2	HP:0001371	Flexion contracture	-	OMIM:601675
2068	ERCC2	HP:0001373	Joint dislocation	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000054	Micropenis	1/1	OMIM:610756
2068	ERCC2	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:910
2068	ERCC2	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0007485	Absence of subcutaneous fat	-	OMIM:601675
2068	ERCC2	HP:0007485	Absence of subcutaneous fat	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	-	OMIM:601675
2068	ERCC2	HP:0002664	Neoplasm	HP:0040283	ORPHA:910
2068	ERCC2	HP:0002671	Basal cell carcinoma	HP:0040282	ORPHA:220295
2068	ERCC2	HP:0002671	Basal cell carcinoma	-	OMIM:601675
2068	ERCC2	HP:0001338	Partial agenesis of the corpus callosum	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:278730
2068	ERCC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:610756
2068	ERCC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:601675
2068	ERCC2	HP:0002634	Arteriosclerosis	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:1466
2068	ERCC2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:910
2068	ERCC2	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:910
2068	ERCC2	HP:0000135	Hypogonadism	HP:0040282	ORPHA:1466
2068	ERCC2	HP:0000135	Hypogonadism	-	OMIM:601675
2068	ERCC2	HP:0000135	Hypogonadism	HP:0040281	ORPHA:910
2068	ERCC2	HP:0001480	Freckling	-	OMIM:601675
2068	ERCC2	HP:0001480	Freckling	HP:0040281	ORPHA:910
2068	ERCC2	HP:0007633	Bilateral microphthalmos	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0002705	High, narrow palate	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0007587	Numerous pigmented freckles	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0007587	Numerous pigmented freckles	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000133	Gonadal dysgenesis	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0002751	Kyphoscoliosis	1/1	OMIM:610756
2068	ERCC2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:910
2068	ERCC2	HP:0002719	Recurrent infections	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0002719	Recurrent infections	-	OMIM:601675
2068	ERCC2	HP:0003355	Aminoaciduria	HP:0040283	ORPHA:910
2068	ERCC2	HP:0002024	Malabsorption	-	OMIM:601675
2068	ERCC2	HP:0002028	Chronic diarrhea	-	OMIM:601675
2068	ERCC2	HP:0002080	Intention tremor	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:910
2068	ERCC2	HP:0002099	Asthma	-	OMIM:601675
2068	ERCC2	HP:0002066	Gait ataxia	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:910
2068	ERCC2	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:910
2068	ERCC2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:910
2068	ERCC2	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0002197	Generalized-onset seizure	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0100490	Camptodactyly of finger	1/1	OMIM:610756
2068	ERCC2	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0010551	Paraplegia/paraparesis	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0003593	Infantile onset	11/11	OMIM:601675
2068	ERCC2	HP:0003577	Congenital onset	1/1	OMIM:610756
2068	ERCC2	HP:0002213	Fine hair	-	OMIM:601675
2068	ERCC2	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0008404	Nail dystrophy	-	OMIM:601675
2068	ERCC2	HP:0002299	Brittle hair	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0002299	Brittle hair	-	OMIM:601675
2068	ERCC2	HP:0002293	Alopecia of scalp	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0007034	Generalized hyperreflexia	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0010649	Flat nasal alae	HP:0040283	ORPHA:910
2068	ERCC2	HP:0008391	Dystrophic fingernails	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0008386	Aplasia/Hypoplasia of the nails	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:910
2068	ERCC2	HP:0001059	Pterygium	HP:0040283	ORPHA:910
2068	ERCC2	HP:0001034	Hypermelanotic macule	HP:0040282	ORPHA:910
2068	ERCC2	HP:0001029	Poikiloderma	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0001029	Poikiloderma	-	OMIM:278730
2068	ERCC2	HP:0001029	Poikiloderma	HP:0040281	ORPHA:910
2068	ERCC2	HP:0002376	Developmental regression	HP:0040281	ORPHA:910
2068	ERCC2	HP:0001009	Telangiectasia	-	OMIM:601675
2068	ERCC2	HP:0001009	Telangiectasia	-	OMIM:278730
2068	ERCC2	HP:0001009	Telangiectasia	HP:0040281	ORPHA:910
2068	ERCC2	HP:0001025	Urticaria	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:910
2068	ERCC2	HP:0001019	Erythroderma	-	OMIM:601675
2068	ERCC2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:910
2068	ERCC2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:1466
2068	ERCC2	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	OMIM:601675
2068	ERCC2	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	OMIM:278730
2068	ERCC2	HP:0001072	Thickened skin	HP:0040281	ORPHA:910
2068	ERCC2	HP:0010783	Erythema	HP:0040282	ORPHA:910
2068	ERCC2	HP:0007108	Demyelinating peripheral neuropathy	HP:0040282	ORPHA:220295
2068	ERCC2	HP:0009755	Ankyloblepharon	HP:0040283	ORPHA:910
2068	ERCC2	HP:4000007	Bronchoconstriction	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0006887	Intellectual disability, progressive	HP:0040281	ORPHA:910
2068	ERCC2	HP:0000639	Nystagmus	-	OMIM:601675
2068	ERCC2	HP:0000639	Nystagmus	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000639	Nystagmus	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0000651	Diplopia	HP:0040282	ORPHA:220295
2068	ERCC2	HP:0000648	Optic atrophy	HP:0040281	ORPHA:910
2068	ERCC2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1466
2068	ERCC2	HP:0000648	Optic atrophy	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0000613	Photophobia	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000613	Photophobia	HP:0040283	ORPHA:910
2068	ERCC2	HP:0000613	Photophobia	-	OMIM:601675
2068	ERCC2	HP:0000613	Photophobia	-	OMIM:278730
2068	ERCC2	HP:0001945	Fever	HP:0040281	ORPHA:910
2068	ERCC2	HP:0000621	Entropion	-	OMIM:278730
2068	ERCC2	HP:0000621	Entropion	HP:0040283	ORPHA:910
2068	ERCC2	HP:0000608	Macular degeneration	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000601	Hypotelorism	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001903	Anemia	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0000656	Ectropion	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000656	Ectropion	-	OMIM:278730
2068	ERCC2	HP:0000656	Ectropion	HP:0040283	ORPHA:910
2068	ERCC2	HP:0000670	Carious teeth	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0004322	Short stature	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0004322	Short stature	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0004322	Short stature	-	OMIM:601675
2068	ERCC2	HP:0004322	Short stature	HP:0040283	ORPHA:910
2068	ERCC2	HP:0004315	Decreased circulating IgG concentration	-	OMIM:601675
2068	ERCC2	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0004334	Dermal atrophy	-	OMIM:278730
2068	ERCC2	HP:0004334	Dermal atrophy	HP:0040282	ORPHA:910
2068	ERCC2	HP:0004326	Cachexia	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0003079	Defective DNA repair after ultraviolet radiation damage	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0003079	Defective DNA repair after ultraviolet radiation damage	-	OMIM:278730
2068	ERCC2	HP:0004337	Abnormality of amino acid metabolism	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0100012	Neoplasm of the eye	HP:0040283	ORPHA:910
2068	ERCC2	HP:0012733	Macule	HP:0040282	ORPHA:910
2068	ERCC2	HP:0012740	Papilloma	HP:0040282	ORPHA:910
2068	ERCC2	HP:0000750	Delayed speech and language development	-	OMIM:601675
2068	ERCC2	HP:0011496	Corneal neovascularization	HP:0040283	OMIM:278730
2068	ERCC2	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0003196	Short nose	-	OMIM:601675
2068	ERCC2	HP:0004493	Craniofacial hyperostosis	HP:0040283	ORPHA:910
2068	ERCC2	HP:0003139	Panhypogammaglobulinemia	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0045055	Tiger tail banding	-	OMIM:601675
2068	ERCC2	HP:0045055	Tiger tail banding	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:910
2068	ERCC2	HP:0100275	Diffuse cerebellar atrophy	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000992	Cutaneous photosensitivity	1/1	OMIM:610756
2068	ERCC2	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:1466
2068	ERCC2	HP:0000992	Cutaneous photosensitivity	11/11	OMIM:601675
2068	ERCC2	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000992	Cutaneous photosensitivity	1/1	OMIM:278730
2068	ERCC2	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:910
2068	ERCC2	HP:0000988	Skin rash	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0000958	Dry skin	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000958	Dry skin	HP:0040281	ORPHA:910
2068	ERCC2	HP:0000958	Dry skin	-	OMIM:601675
2068	ERCC2	HP:0000958	Dry skin	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0034354	Trichoschisis	11/11	OMIM:601675
2068	ERCC2	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000963	Thin skin	HP:0040281	ORPHA:910
2068	ERCC2	HP:0000962	Hyperkeratosis	-	OMIM:601675
2068	ERCC2	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:910
2068	ERCC2	HP:0000938	Osteopenia	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0008070	Sparse hair	1/1	OMIM:610756
2068	ERCC2	HP:0008070	Sparse hair	-	OMIM:601675
2068	ERCC2	HP:0008064	Ichthyosis	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:1466
2068	ERCC2	HP:0000286	Epicanthus	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000280	Coarse facial features	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000278	Retrognathia	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000278	Retrognathia	20/20	OMIM:601675
2068	ERCC2	HP:0001596	Alopecia	HP:0040283	ORPHA:910
2068	ERCC2	HP:0025548	Increased mean corpuscular hemoglobin concentration	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001598	Concave nail	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0007759	Opacification of the corneal stroma	HP:0040283	ORPHA:910
2068	ERCC2	HP:0005105	Abnormal nasal morphology	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0002829	Arthralgia	HP:0040281	ORPHA:910
2068	ERCC2	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0000252	Microcephaly	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0000252	Microcephaly	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000252	Microcephaly	1/1	OMIM:610756
2068	ERCC2	HP:0000252	Microcephaly	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0000252	Microcephaly	-	OMIM:601675
2068	ERCC2	HP:0000252	Microcephaly	HP:0040283	ORPHA:910
2068	ERCC2	HP:0000252	Microcephaly	-	OMIM:278730
2068	ERCC2	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0002861	Melanoma	HP:0040282	ORPHA:220295
2068	ERCC2	HP:0002861	Melanoma	-	OMIM:278730
2068	ERCC2	HP:0002861	Melanoma	HP:0040282	ORPHA:910
2068	ERCC2	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0002860	Squamous cell carcinoma	-	OMIM:601675
2068	ERCC2	HP:0001522	Death in infancy	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0001522	Death in infancy	4/11	OMIM:601675
2068	ERCC2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000207	Triangular mouth	-	OMIM:601675
2068	ERCC2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:910
2068	ERCC2	HP:0001518	Small for gestational age	1/1	OMIM:610756
2068	ERCC2	HP:0001518	Small for gestational age	-	OMIM:601675
2068	ERCC2	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001511	Intrauterine growth retardation	1/1	OMIM:610756
2068	ERCC2	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1466
2068	ERCC2	HP:0001510	Growth delay	1/1	OMIM:610756
2068	ERCC2	HP:0012378	Fatigue	HP:0040281	ORPHA:910
2068	ERCC2	HP:0005214	Intestinal obstruction	-	OMIM:601675
2068	ERCC2	HP:0006538	Recurrent bronchopulmonary infections	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001618	Dysphonia	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0002942	Thoracic kyphosis	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000365	Hearing impairment	1/1	OMIM:610756
2068	ERCC2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:910
2068	ERCC2	HP:0000365	Hearing impairment	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000347	Micrognathia	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0000347	Micrognathia	1/1	OMIM:610756
2068	ERCC2	HP:0000320	Bird-like facies	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000498	Blepharitis	HP:0040283	ORPHA:910
2068	ERCC2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:1466
2068	ERCC2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:910
2068	ERCC2	HP:0000407	Sensorineural hearing impairment	-	OMIM:278730
2068	ERCC2	HP:0000400	Macrotia	-	OMIM:601675
2068	ERCC2	HP:0000483	Astigmatism	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000486	Strabismus	-	OMIM:601675
2068	ERCC2	HP:0000486	Strabismus	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000486	Strabismus	HP:0040282	ORPHA:910
2068	ERCC2	HP:0000482	Microcornea	HP:0040283	OMIM:601675
2068	ERCC2	HP:0000482	Microcornea	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000491	Keratitis	-	OMIM:278730
2068	ERCC2	HP:0000491	Keratitis	HP:0040282	ORPHA:910
2068	ERCC2	HP:0000490	Deeply set eye	1/1	OMIM:610756
2068	ERCC2	HP:0000488	Retinopathy	HP:0040281	ORPHA:220295
2068	ERCC2	HP:0001792	Small nail	-	OMIM:601675
2068	ERCC2	HP:0000470	Short neck	HP:0040282	ORPHA:1466
2068	ERCC2	HP:0000448	Prominent nose	1/1	OMIM:610756
2068	ERCC2	HP:0000444	Convex nasal ridge	2/2	OMIM:610756
2068	ERCC2	HP:0000411	Protruding ear	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000411	Protruding ear	HP:0040283	OMIM:601675
2068	ERCC2	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0006739	Squamous cell carcinoma of the skin	HP:0040282	ORPHA:220295
2068	ERCC2	HP:0005487	Prominent metopic ridge	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0000518	Cataract	1/1	OMIM:610756
2068	ERCC2	HP:0000518	Cataract	-	OMIM:601675
2068	ERCC2	HP:0000518	Cataract	HP:0040282	ORPHA:910
2068	ERCC2	HP:0000518	Cataract	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0000518	Cataract	-	OMIM:278730
2068	ERCC2	HP:0000519	Developmental cataract	1/1	OMIM:610756
2068	ERCC2	HP:0000519	Developmental cataract	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000524	Conjunctival telangiectasia	HP:0040281	ORPHA:910
2068	ERCC2	HP:0001838	Rocker bottom foot	1/1	OMIM:610756
2068	ERCC2	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000509	Conjunctivitis	-	OMIM:278730
2068	ERCC2	HP:0000505	Visual impairment	HP:0040282	ORPHA:1466
2068	ERCC2	HP:0001809	Split nail	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001808	Fragile nails	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001808	Fragile nails	-	OMIM:601675
2068	ERCC2	HP:0001807	Ridged nail	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000568	Microphthalmia	1/1	OMIM:610756
2068	ERCC2	HP:0000568	Microphthalmia	HP:0040281	ORPHA:1466
2068	ERCC2	HP:0000568	Microphthalmia	HP:0040283	OMIM:601675
2068	ERCC2	HP:0000568	Microphthalmia	-	OMIM:278730
2068	ERCC2	HP:0000565	Esotropia	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001883	Talipes	HP:0040283	ORPHA:1466
2068	ERCC2	HP:0000546	Retinal degeneration	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0000545	Myopia	HP:0040283	ORPHA:33364
2068	ERCC2	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33364
2070	EYA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:601316
2070	EYA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:605362
2070	EYA4	HP:0030872	Abnormal cardiac ventricular function	HP:0040281	ORPHA:217622
2070	EYA4	HP:0005162	Abnormal left ventricular function	-	OMIM:605362
2070	EYA4	HP:0000365	Hearing impairment	HP:0040281	ORPHA:217622
2070	EYA4	HP:0001699	Sudden death	-	OMIM:605362
2070	EYA4	HP:0001645	Sudden cardiac death	-	OMIM:605362
2070	EYA4	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:217622
2070	EYA4	HP:0001644	Dilated cardiomyopathy	-	OMIM:605362
2070	EYA4	HP:0001635	Congestive heart failure	HP:0040281	ORPHA:217622
2070	EYA4	HP:0001635	Congestive heart failure	-	OMIM:605362
2070	EYA4	HP:0000407	Sensorineural hearing impairment	-	OMIM:601316
2070	EYA4	HP:0000407	Sensorineural hearing impairment	-	OMIM:605362
2070	EYA4	HP:0000403	Recurrent otitis media	HP:0040281	ORPHA:217622
2071	ERCC3	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001197	Abnormality of prenatal development or birth	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0410219	Hypoplasia of mandible relative to maxilla	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0007266	Cerebral dysmyelination	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001276	Hypertonia	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001272	Cerebellar atrophy	-	OMIM:610651
2071	ERCC3	HP:0001289	Confusion	HP:0040282	ORPHA:220295
2071	ERCC3	HP:0001250	Seizure	HP:0040283	ORPHA:910
2071	ERCC3	HP:0001251	Ataxia	-	OMIM:610651
2071	ERCC3	HP:0001251	Ataxia	HP:0040283	ORPHA:910
2071	ERCC3	HP:0001251	Ataxia	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0001249	Intellectual disability	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0001249	Intellectual disability	0/2	OMIM:616390
2071	ERCC3	HP:0001249	Intellectual disability	-	OMIM:610651
2071	ERCC3	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001260	Dysarthria	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001260	Dysarthria	HP:0040282	ORPHA:220295
2071	ERCC3	HP:0001263	Global developmental delay	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001263	Global developmental delay	HP:0040282	ORPHA:220295
2071	ERCC3	HP:0001257	Spasticity	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001257	Spasticity	HP:0040283	ORPHA:910
2071	ERCC3	HP:0001257	Spasticity	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0002562	Low-set nipples	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:910
2071	ERCC3	HP:0007381	Congenital exfoliative erythroderma	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001217	Clubbing	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0012056	Cutaneous melanoma	-	OMIM:610651
2071	ERCC3	HP:0001373	Joint dislocation	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001347	Hyperreflexia	-	OMIM:610651
2071	ERCC3	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:910
2071	ERCC3	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0007485	Absence of subcutaneous fat	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	2/2	OMIM:616390
2071	ERCC3	HP:0002664	Neoplasm	-	OMIM:610651
2071	ERCC3	HP:0002664	Neoplasm	HP:0040283	ORPHA:910
2071	ERCC3	HP:0002671	Basal cell carcinoma	HP:0040282	ORPHA:220295
2071	ERCC3	HP:0002671	Basal cell carcinoma	-	OMIM:610651
2071	ERCC3	HP:0001338	Partial agenesis of the corpus callosum	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:616390
2071	ERCC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:610651
2071	ERCC3	HP:0002634	Arteriosclerosis	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:910
2071	ERCC3	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:910
2071	ERCC3	HP:0000135	Hypogonadism	-	OMIM:610651
2071	ERCC3	HP:0000135	Hypogonadism	HP:0040281	ORPHA:910
2071	ERCC3	HP:0001480	Freckling	-	OMIM:610651
2071	ERCC3	HP:0001480	Freckling	HP:0040281	ORPHA:910
2071	ERCC3	HP:0007633	Bilateral microphthalmos	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0002705	High, narrow palate	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0007587	Numerous pigmented freckles	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0007587	Numerous pigmented freckles	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000133	Gonadal dysgenesis	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:910
2071	ERCC3	HP:0002719	Recurrent infections	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0003355	Aminoaciduria	HP:0040283	ORPHA:910
2071	ERCC3	HP:0002080	Intention tremor	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:910
2071	ERCC3	HP:0002066	Gait ataxia	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:910
2071	ERCC3	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:910
2071	ERCC3	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:910
2071	ERCC3	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0002119	Ventriculomegaly	-	OMIM:610651
2071	ERCC3	HP:0002135	Basal ganglia calcification	-	OMIM:610651
2071	ERCC3	HP:0002197	Generalized-onset seizure	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0010551	Paraplegia/paraparesis	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0003577	Congenital onset	2/2	OMIM:616390
2071	ERCC3	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0002208	Coarse hair	2/2	OMIM:616390
2071	ERCC3	HP:0002299	Brittle hair	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0002293	Alopecia of scalp	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0007034	Generalized hyperreflexia	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0010649	Flat nasal alae	HP:0040283	ORPHA:910
2071	ERCC3	HP:0008391	Dystrophic fingernails	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0008386	Aplasia/Hypoplasia of the nails	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:910
2071	ERCC3	HP:0001059	Pterygium	HP:0040283	ORPHA:910
2071	ERCC3	HP:0001034	Hypermelanotic macule	HP:0040282	ORPHA:910
2071	ERCC3	HP:0001029	Poikiloderma	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0001029	Poikiloderma	HP:0040281	ORPHA:910
2071	ERCC3	HP:0002376	Developmental regression	HP:0040281	ORPHA:910
2071	ERCC3	HP:0001009	Telangiectasia	HP:0040281	ORPHA:910
2071	ERCC3	HP:0001025	Urticaria	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0002353	EEG abnormality	HP:0040281	ORPHA:910
2071	ERCC3	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:910
2071	ERCC3	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001072	Thickened skin	HP:0040281	ORPHA:910
2071	ERCC3	HP:0010783	Erythema	HP:0040282	ORPHA:910
2071	ERCC3	HP:0007108	Demyelinating peripheral neuropathy	HP:0040282	ORPHA:220295
2071	ERCC3	HP:0009755	Ankyloblepharon	HP:0040283	ORPHA:910
2071	ERCC3	HP:4000007	Bronchoconstriction	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0006887	Intellectual disability, progressive	HP:0040281	ORPHA:910
2071	ERCC3	HP:0000639	Nystagmus	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000639	Nystagmus	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0000651	Diplopia	HP:0040282	ORPHA:220295
2071	ERCC3	HP:0000648	Optic atrophy	-	OMIM:610651
2071	ERCC3	HP:0000648	Optic atrophy	HP:0040281	ORPHA:910
2071	ERCC3	HP:0000648	Optic atrophy	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0000613	Photophobia	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000613	Photophobia	HP:0040283	ORPHA:910
2071	ERCC3	HP:0001945	Fever	HP:0040281	ORPHA:910
2071	ERCC3	HP:0000621	Entropion	HP:0040283	ORPHA:910
2071	ERCC3	HP:0000608	Macular degeneration	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000601	Hypotelorism	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001903	Anemia	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000690	Agenesis of maxillary lateral incisor	1/2	OMIM:616390
2071	ERCC3	HP:0000656	Ectropion	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000656	Ectropion	HP:0040283	ORPHA:910
2071	ERCC3	HP:0000670	Carious teeth	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0004322	Short stature	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0004322	Short stature	1/2	OMIM:616390
2071	ERCC3	HP:0004322	Short stature	-	OMIM:610651
2071	ERCC3	HP:0004322	Short stature	HP:0040283	ORPHA:910
2071	ERCC3	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0004334	Dermal atrophy	-	OMIM:610651
2071	ERCC3	HP:0004334	Dermal atrophy	HP:0040282	ORPHA:910
2071	ERCC3	HP:0004326	Cachexia	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0003079	Defective DNA repair after ultraviolet radiation damage	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0004337	Abnormality of amino acid metabolism	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0100012	Neoplasm of the eye	HP:0040283	ORPHA:910
2071	ERCC3	HP:0011400	Abnormal CNS myelination	-	OMIM:610651
2071	ERCC3	HP:0012733	Macule	HP:0040282	ORPHA:910
2071	ERCC3	HP:0012740	Papilloma	HP:0040282	ORPHA:910
2071	ERCC3	HP:0000762	Decreased nerve conduction velocity	-	OMIM:610651
2071	ERCC3	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0004493	Craniofacial hyperostosis	HP:0040283	ORPHA:910
2071	ERCC3	HP:0003139	Panhypogammaglobulinemia	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0003224	Increased cellular sensitivity to UV light	-	OMIM:610651
2071	ERCC3	HP:0045055	Tiger tail banding	2/2	OMIM:616390
2071	ERCC3	HP:0045055	Tiger tail banding	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:910
2071	ERCC3	HP:0100275	Diffuse cerebellar atrophy	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000992	Cutaneous photosensitivity	-	OMIM:610651
2071	ERCC3	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000992	Cutaneous photosensitivity	2/2	OMIM:616390
2071	ERCC3	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:910
2071	ERCC3	HP:0000988	Skin rash	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0000958	Dry skin	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000958	Dry skin	HP:0040281	ORPHA:910
2071	ERCC3	HP:0000958	Dry skin	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000963	Thin skin	HP:0040281	ORPHA:910
2071	ERCC3	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:910
2071	ERCC3	HP:0000938	Osteopenia	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0008064	Ichthyosis	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0008064	Ichthyosis	2/2	OMIM:616390
2071	ERCC3	HP:0000286	Epicanthus	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000280	Coarse facial features	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000278	Retrognathia	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001596	Alopecia	HP:0040283	ORPHA:910
2071	ERCC3	HP:0025548	Increased mean corpuscular hemoglobin concentration	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001598	Concave nail	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0007759	Opacification of the corneal stroma	HP:0040283	ORPHA:910
2071	ERCC3	HP:0002829	Arthralgia	HP:0040281	ORPHA:910
2071	ERCC3	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0000252	Microcephaly	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000252	Microcephaly	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0000252	Microcephaly	-	OMIM:610651
2071	ERCC3	HP:0000252	Microcephaly	HP:0040283	ORPHA:910
2071	ERCC3	HP:0002861	Melanoma	HP:0040282	ORPHA:220295
2071	ERCC3	HP:0002861	Melanoma	HP:0040282	ORPHA:910
2071	ERCC3	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001508	Failure to thrive	HP:0040281	ORPHA:910
2071	ERCC3	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0012378	Fatigue	HP:0040281	ORPHA:910
2071	ERCC3	HP:0006538	Recurrent bronchopulmonary infections	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001618	Dysphonia	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0002942	Thoracic kyphosis	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000365	Hearing impairment	HP:0040283	ORPHA:910
2071	ERCC3	HP:0000365	Hearing impairment	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000320	Bird-like facies	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000498	Blepharitis	HP:0040283	ORPHA:910
2071	ERCC3	HP:0005328	Progeroid facial appearance	-	OMIM:610651
2071	ERCC3	HP:0000407	Sensorineural hearing impairment	-	OMIM:610651
2071	ERCC3	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:910
2071	ERCC3	HP:0000483	Astigmatism	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000486	Strabismus	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000486	Strabismus	HP:0040282	ORPHA:910
2071	ERCC3	HP:0000482	Microcornea	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000491	Keratitis	HP:0040282	ORPHA:910
2071	ERCC3	HP:0000488	Retinopathy	HP:0040281	ORPHA:220295
2071	ERCC3	HP:0000411	Protruding ear	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0006739	Squamous cell carcinoma of the skin	-	OMIM:610651
2071	ERCC3	HP:0006739	Squamous cell carcinoma of the skin	HP:0040282	ORPHA:220295
2071	ERCC3	HP:0000518	Cataract	-	OMIM:610651
2071	ERCC3	HP:0000518	Cataract	HP:0040282	ORPHA:910
2071	ERCC3	HP:0000519	Developmental cataract	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000524	Conjunctival telangiectasia	HP:0040281	ORPHA:910
2071	ERCC3	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001809	Split nail	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001808	Fragile nails	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001807	Ridged nail	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000580	Pigmentary retinopathy	-	OMIM:610651
2071	ERCC3	HP:0000568	Microphthalmia	-	OMIM:610651
2071	ERCC3	HP:0000565	Esotropia	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000546	Retinal degeneration	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0000545	Myopia	HP:0040283	ORPHA:33364
2071	ERCC3	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33364
2072	ERCC4	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
2072	ERCC4	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
2072	ERCC4	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
2072	ERCC4	HP:0001289	Confusion	HP:0040282	ORPHA:220295
2072	ERCC4	HP:0001288	Gait disturbance	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0001256	Intellectual disability, mild	-	OMIM:610965
2072	ERCC4	HP:0001250	Seizure	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0001250	Seizure	HP:0040283	ORPHA:910
2072	ERCC4	HP:0001252	Hypotonia	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0001251	Ataxia	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0001251	Ataxia	HP:0040283	ORPHA:910
2072	ERCC4	HP:0001251	Ataxia	HP:0040283	OMIM:278760
2072	ERCC4	HP:0001251	Ataxia	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
2072	ERCC4	HP:0001249	Intellectual disability	HP:0040281	ORPHA:90321
2072	ERCC4	HP:0001249	Intellectual disability	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0001249	Intellectual disability	HP:0040283	OMIM:278760
2072	ERCC4	HP:0001260	Dysarthria	HP:0040282	ORPHA:220295
2072	ERCC4	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
2072	ERCC4	HP:0001263	Global developmental delay	HP:0040282	ORPHA:220295
2072	ERCC4	HP:0001257	Spasticity	HP:0040283	ORPHA:910
2072	ERCC4	HP:0001257	Spasticity	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
2072	ERCC4	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
2072	ERCC4	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
2072	ERCC4	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:910
2072	ERCC4	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
2072	ERCC4	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000083	Renal insufficiency	1/1	OMIM:610965
2072	ERCC4	HP:0000093	Proteinuria	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0000093	Proteinuria	1/1	OMIM:610965
2072	ERCC4	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
2072	ERCC4	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
2072	ERCC4	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
2072	ERCC4	HP:0001371	Flexion contracture	HP:0040283	OMIM:278760
2072	ERCC4	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
2072	ERCC4	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000026	Male hypogonadism	HP:0040284	ORPHA:90321
2072	ERCC4	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:90321
2072	ERCC4	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:910
2072	ERCC4	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
2072	ERCC4	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
2072	ERCC4	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:90321
2072	ERCC4	HP:0007495	Prematurely aged appearance	2/2	OMIM:610965
2072	ERCC4	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0007485	Absence of subcutaneous fat	1/1	OMIM:610965
2072	ERCC4	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
2072	ERCC4	HP:0002664	Neoplasm	HP:0040283	ORPHA:910
2072	ERCC4	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
2072	ERCC4	HP:0002671	Basal cell carcinoma	HP:0040282	ORPHA:220295
2072	ERCC4	HP:0002671	Basal cell carcinoma	9/18	OMIM:278760
2072	ERCC4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615272
2072	ERCC4	HP:0000007	Autosomal recessive inheritance	-	OMIM:610965
2072	ERCC4	HP:0000007	Autosomal recessive inheritance	-	OMIM:278760
2072	ERCC4	HP:0001337	Tremor	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0001337	Tremor	HP:0040283	OMIM:278760
2072	ERCC4	HP:0002634	Arteriosclerosis	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
2072	ERCC4	HP:0002650	Scoliosis	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0002650	Scoliosis	1/1	OMIM:610965
2072	ERCC4	HP:0002650	Scoliosis	HP:0040283	OMIM:278760
2072	ERCC4	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:910
2072	ERCC4	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:910
2072	ERCC4	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000135	Hypogonadism	HP:0040281	ORPHA:910
2072	ERCC4	HP:0001480	Freckling	18/18	OMIM:278760
2072	ERCC4	HP:0001480	Freckling	HP:0040281	ORPHA:910
2072	ERCC4	HP:0006334	Hypoplasia of the primary teeth	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0006313	Widely spaced primary teeth	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0031287	Seborrheic keratosis	-	OMIM:278760
2072	ERCC4	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0006297	Enamel hypoplasia	1/1	OMIM:610965
2072	ERCC4	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
2072	ERCC4	HP:0007587	Numerous pigmented freckles	-	OMIM:278760
2072	ERCC4	HP:0007587	Numerous pigmented freckles	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
2072	ERCC4	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:910
2072	ERCC4	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
2072	ERCC4	HP:0003355	Aminoaciduria	HP:0040283	ORPHA:910
2072	ERCC4	HP:0002032	Esophageal atresia	1/2	OMIM:615272
2072	ERCC4	HP:0002014	Diarrhea	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0002011	Morphological central nervous system abnormality	HP:0040283	OMIM:278760
2072	ERCC4	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
2072	ERCC4	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
2072	ERCC4	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:910
2072	ERCC4	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:910
2072	ERCC4	HP:0010445	Primum atrial septal defect	1/2	OMIM:615272
2072	ERCC4	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:910
2072	ERCC4	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
2072	ERCC4	HP:0005912	Biliary atresia	1/2	OMIM:615272
2072	ERCC4	HP:0010469	Absent testis	HP:0040283	ORPHA:84
2072	ERCC4	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:910
2072	ERCC4	HP:0002119	Ventriculomegaly	1/1	OMIM:610965
2072	ERCC4	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
2072	ERCC4	HP:0002135	Basal ganglia calcification	HP:0040281	ORPHA:90321
2072	ERCC4	HP:0002172	Postural instability	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0008209	Premature ovarian insufficiency	1/1	OMIM:610965
2072	ERCC4	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
2072	ERCC4	HP:0003577	Congenital onset	2/2	OMIM:615272
2072	ERCC4	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
2072	ERCC4	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
2072	ERCC4	HP:0008366	Foot joint contracture	HP:0040281	ORPHA:90321
2072	ERCC4	HP:0010649	Flat nasal alae	HP:0040283	ORPHA:910
2072	ERCC4	HP:0003510	Severe short stature	1/1	OMIM:610965
2072	ERCC4	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
2072	ERCC4	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:910
2072	ERCC4	HP:0001059	Pterygium	HP:0040283	ORPHA:910
2072	ERCC4	HP:0001034	Hypermelanotic macule	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0001034	Hypermelanotic macule	HP:0040282	ORPHA:910
2072	ERCC4	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0001029	Poikiloderma	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0001029	Poikiloderma	HP:0040281	ORPHA:910
2072	ERCC4	HP:0002376	Developmental regression	HP:0040281	ORPHA:910
2072	ERCC4	HP:0002370	Poor coordination	1/1	OMIM:610965
2072	ERCC4	HP:0001009	Telangiectasia	HP:0040281	ORPHA:910
2072	ERCC4	HP:0001025	Urticaria	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0002353	EEG abnormality	HP:0040281	ORPHA:910
2072	ERCC4	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
2072	ERCC4	HP:0200034	Papule	-	OMIM:278760
2072	ERCC4	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:910
2072	ERCC4	HP:0001072	Thickened skin	HP:0040281	ORPHA:910
2072	ERCC4	HP:0010783	Erythema	14/14	OMIM:278760
2072	ERCC4	HP:0010783	Erythema	HP:0040282	ORPHA:910
2072	ERCC4	HP:0100699	Scarring	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0009777	Absent thumb	1/2	OMIM:615272
2072	ERCC4	HP:0007108	Demyelinating peripheral neuropathy	HP:0040282	ORPHA:220295
2072	ERCC4	HP:0009755	Ankyloblepharon	HP:0040283	ORPHA:910
2072	ERCC4	HP:0003621	Juvenile onset	9/13	OMIM:278760
2072	ERCC4	HP:0005528	Bone marrow hypocellularity	2/2	OMIM:615272
2072	ERCC4	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
2072	ERCC4	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
2072	ERCC4	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
2072	ERCC4	HP:0006887	Intellectual disability, progressive	HP:0040281	ORPHA:910
2072	ERCC4	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000639	Nystagmus	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0000639	Nystagmus	HP:0040283	OMIM:278760
2072	ERCC4	HP:0000639	Nystagmus	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0000633	Decreased lacrimation	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0000651	Diplopia	HP:0040282	ORPHA:220295
2072	ERCC4	HP:0000648	Optic atrophy	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0000648	Optic atrophy	1/1	OMIM:610965
2072	ERCC4	HP:0000648	Optic atrophy	HP:0040281	ORPHA:910
2072	ERCC4	HP:0000648	Optic atrophy	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0000618	Blindness	1/1	OMIM:610965
2072	ERCC4	HP:0000613	Photophobia	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0000613	Photophobia	HP:0040283	ORPHA:910
2072	ERCC4	HP:0001945	Fever	HP:0040281	ORPHA:910
2072	ERCC4	HP:0000621	Entropion	HP:0040283	ORPHA:910
2072	ERCC4	HP:0001903	Anemia	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0001903	Anemia	HP:0040281	ORPHA:84
2072	ERCC4	HP:0000680	Delayed eruption of primary teeth	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0000674	Anodontia	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0000656	Ectropion	HP:0040283	ORPHA:910
2072	ERCC4	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
2072	ERCC4	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:90321
2072	ERCC4	HP:0004325	Decreased body weight	HP:0040283	OMIM:278760
2072	ERCC4	HP:0004322	Short stature	2/2	OMIM:615272
2072	ERCC4	HP:0004322	Short stature	HP:0040281	ORPHA:84
2072	ERCC4	HP:0004322	Short stature	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0004322	Short stature	HP:0040283	ORPHA:910
2072	ERCC4	HP:0004322	Short stature	HP:0040283	OMIM:278760
2072	ERCC4	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0004334	Dermal atrophy	1/1	OMIM:610965
2072	ERCC4	HP:0004334	Dermal atrophy	HP:0040282	ORPHA:910
2072	ERCC4	HP:0004326	Cachexia	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0004326	Cachexia	1/1	OMIM:610965
2072	ERCC4	HP:0003079	Defective DNA repair after ultraviolet radiation damage	-	OMIM:278760
2072	ERCC4	HP:0003079	Defective DNA repair after ultraviolet radiation damage	1/1	OMIM:610965
2072	ERCC4	HP:0003073	Hypoalbuminemia	1/1	OMIM:610965
2072	ERCC4	HP:0004370	Abnormality of temperature regulation	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0004337	Abnormality of amino acid metabolism	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
2072	ERCC4	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
2072	ERCC4	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
2072	ERCC4	HP:0100012	Neoplasm of the eye	HP:0040283	ORPHA:910
2072	ERCC4	HP:0012733	Macule	HP:0040282	ORPHA:910
2072	ERCC4	HP:0012740	Papilloma	HP:0040282	ORPHA:910
2072	ERCC4	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000726	Dementia	HP:0040283	OMIM:278760
2072	ERCC4	HP:0011463	Childhood onset	4/13	OMIM:278760
2072	ERCC4	HP:0011421	Death in adolescence	1/1	OMIM:610965
2072	ERCC4	HP:0004493	Craniofacial hyperostosis	HP:0040283	ORPHA:910
2072	ERCC4	HP:0003134	Abnormality of peripheral nerve conduction	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0004463	Absent brainstem auditory responses	HP:0040281	ORPHA:90321
2072	ERCC4	HP:0003138	Increased blood urea nitrogen	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000822	Hypertension	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0000822	Hypertension	1/1	OMIM:610965
2072	ERCC4	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
2072	ERCC4	HP:0040012	Chromosome breakage	2/2	OMIM:615272
2072	ERCC4	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
2072	ERCC4	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	-	OMIM:278760
2072	ERCC4	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
2072	ERCC4	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:910
2072	ERCC4	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:90321
2072	ERCC4	HP:0000992	Cutaneous photosensitivity	-	OMIM:278760
2072	ERCC4	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0000992	Cutaneous photosensitivity	1/1	OMIM:610965
2072	ERCC4	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:910
2072	ERCC4	HP:0000988	Skin rash	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0000958	Dry skin	1/1	OMIM:610965
2072	ERCC4	HP:0000958	Dry skin	HP:0040281	ORPHA:910
2072	ERCC4	HP:0000958	Dry skin	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0000966	Hypohidrosis	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0000963	Thin skin	HP:0040281	ORPHA:910
2072	ERCC4	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:910
2072	ERCC4	HP:0008069	Neoplasm of the skin	HP:0040283	OMIM:278760
2072	ERCC4	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
2072	ERCC4	HP:0001596	Alopecia	HP:0040283	ORPHA:910
2072	ERCC4	HP:0000275	Narrow face	1/1	OMIM:610965
2072	ERCC4	HP:0000276	Long face	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
2072	ERCC4	HP:0007759	Opacification of the corneal stroma	HP:0040283	ORPHA:910
2072	ERCC4	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
2072	ERCC4	HP:0002829	Arthralgia	HP:0040281	ORPHA:910
2072	ERCC4	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
2072	ERCC4	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0000252	Microcephaly	1/2	OMIM:615272
2072	ERCC4	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
2072	ERCC4	HP:0000252	Microcephaly	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0000252	Microcephaly	2/2	OMIM:610965
2072	ERCC4	HP:0000252	Microcephaly	HP:0040283	ORPHA:910
2072	ERCC4	HP:0000252	Microcephaly	HP:0040283	OMIM:278760
2072	ERCC4	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
2072	ERCC4	HP:0000218	High palate	HP:0040283	ORPHA:84
2072	ERCC4	HP:0001545	Anteriorly placed anus	1/2	OMIM:615272
2072	ERCC4	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
2072	ERCC4	HP:0002861	Melanoma	HP:0040282	ORPHA:220295
2072	ERCC4	HP:0002861	Melanoma	HP:0040282	ORPHA:910
2072	ERCC4	HP:0002860	Squamous cell carcinoma	2/18	OMIM:278760
2072	ERCC4	HP:0001541	Ascites	1/1	OMIM:610965
2072	ERCC4	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
2072	ERCC4	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
2072	ERCC4	HP:0001508	Failure to thrive	HP:0040281	ORPHA:90321
2072	ERCC4	HP:0001508	Failure to thrive	1/1	OMIM:610965
2072	ERCC4	HP:0001508	Failure to thrive	HP:0040281	ORPHA:910
2072	ERCC4	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
2072	ERCC4	HP:0001510	Growth delay	2/2	OMIM:615272
2072	ERCC4	HP:0001510	Growth delay	HP:0040283	ORPHA:84
2072	ERCC4	HP:0007843	Attenuation of retinal blood vessels	1/1	OMIM:610965
2072	ERCC4	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
2072	ERCC4	HP:0012378	Fatigue	HP:0040281	ORPHA:910
2072	ERCC4	HP:0031525	Keratoacanthoma	3/18	OMIM:278760
2072	ERCC4	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
2072	ERCC4	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
2072	ERCC4	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:90321
2072	ERCC4	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:610965
2072	ERCC4	HP:0006480	Premature loss of teeth	1/1	OMIM:610965
2072	ERCC4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000365	Hearing impairment	HP:0040281	ORPHA:90321
2072	ERCC4	HP:0000365	Hearing impairment	1/1	OMIM:610965
2072	ERCC4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:910
2072	ERCC4	HP:0000365	Hearing impairment	HP:0040283	OMIM:278760
2072	ERCC4	HP:0000365	Hearing impairment	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000369	Low-set ears	1/2	OMIM:615272
2072	ERCC4	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
2072	ERCC4	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000336	Prominent supraorbital ridges	2/2	OMIM:610965
2072	ERCC4	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
2072	ERCC4	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
2072	ERCC4	HP:0002977	Aplasia/Hypoplasia involving the central nervous system	HP:0040283	OMIM:278760
2072	ERCC4	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000331	Short chin	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
2072	ERCC4	HP:0001620	Abnormally high-pitched voice	1/1	OMIM:610965
2072	ERCC4	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
2072	ERCC4	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
2072	ERCC4	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0000498	Blepharitis	HP:0040283	ORPHA:910
2072	ERCC4	HP:0005328	Progeroid facial appearance	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:910
2072	ERCC4	HP:0000400	Macrotia	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0000483	Astigmatism	HP:0040283	OMIM:278760
2072	ERCC4	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000486	Strabismus	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000486	Strabismus	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0000486	Strabismus	HP:0040282	ORPHA:910
2072	ERCC4	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000491	Keratitis	HP:0040282	ORPHA:910
2072	ERCC4	HP:0000490	Deeply set eye	HP:0040281	ORPHA:90321
2072	ERCC4	HP:0000490	Deeply set eye	2/2	OMIM:610965
2072	ERCC4	HP:0000490	Deeply set eye	HP:0040283	OMIM:278760
2072	ERCC4	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000488	Retinopathy	HP:0040281	ORPHA:220295
2072	ERCC4	HP:0012444	Brain atrophy	HP:0040283	OMIM:278760
2072	ERCC4	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
2072	ERCC4	HP:0001763	Pes planus	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000444	Convex nasal ridge	1/1	OMIM:610965
2072	ERCC4	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
2072	ERCC4	HP:0001761	Pes cavus	1/1	OMIM:610965
2072	ERCC4	HP:0006739	Squamous cell carcinoma of the skin	HP:0040282	ORPHA:220295
2072	ERCC4	HP:0000518	Cataract	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0000518	Cataract	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000518	Cataract	HP:0040282	ORPHA:910
2072	ERCC4	HP:0000528	Anophthalmia	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0000524	Conjunctival telangiectasia	HP:0040281	ORPHA:910
2072	ERCC4	HP:0000520	Proptosis	HP:0040283	ORPHA:84
2072	ERCC4	HP:0001824	Weight loss	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0000508	Ptosis	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000505	Visual impairment	HP:0040282	ORPHA:90321
2072	ERCC4	HP:0000505	Visual impairment	1/1	OMIM:610965
2072	ERCC4	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
2072	ERCC4	HP:0000580	Pigmentary retinopathy	HP:0040281	ORPHA:90321
2072	ERCC4	HP:0000559	Corneal scarring	1/1	OMIM:610965
2072	ERCC4	HP:0000554	Uveitis	HP:0040283	ORPHA:90321
2072	ERCC4	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
2072	ERCC4	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
2072	ERCC4	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
2072	ERCC4	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
2073	ERCC5	HP:0007291	Posterior fossa cyst	1/5	OMIM:616570
2073	ERCC5	HP:0001276	Hypertonia	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0001274	Agenesis of corpus callosum	1/5	OMIM:616570
2073	ERCC5	HP:0001289	Confusion	HP:0040282	ORPHA:220295
2073	ERCC5	HP:0001250	Seizure	HP:0040282	ORPHA:1466
2073	ERCC5	HP:0001250	Seizure	HP:0040283	ORPHA:910
2073	ERCC5	HP:0001252	Hypotonia	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0001251	Ataxia	HP:0040283	OMIM:278780
2073	ERCC5	HP:0001251	Ataxia	HP:0040283	ORPHA:910
2073	ERCC5	HP:0001251	Ataxia	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0001249	Intellectual disability	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0001260	Dysarthria	HP:0040282	ORPHA:220295
2073	ERCC5	HP:0001263	Global developmental delay	-	OMIM:616570
2073	ERCC5	HP:0001263	Global developmental delay	HP:0040282	ORPHA:220295
2073	ERCC5	HP:0001263	Global developmental delay	1/3	OMIM:278780
2073	ERCC5	HP:0001257	Spasticity	HP:0040283	OMIM:278780
2073	ERCC5	HP:0001257	Spasticity	HP:0040283	ORPHA:910
2073	ERCC5	HP:0001257	Spasticity	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:910
2073	ERCC5	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0010978	Abnormality of immune system physiology	HP:0040282	ORPHA:1466
2073	ERCC5	HP:0002514	Cerebral calcification	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:910
2073	ERCC5	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0002664	Neoplasm	HP:0040283	ORPHA:910
2073	ERCC5	HP:0002671	Basal cell carcinoma	HP:0040282	ORPHA:220295
2073	ERCC5	HP:0000007	Autosomal recessive inheritance	-	OMIM:616570
2073	ERCC5	HP:0000007	Autosomal recessive inheritance	-	OMIM:278780
2073	ERCC5	HP:0001337	Tremor	HP:0040283	OMIM:278780
2073	ERCC5	HP:0002634	Arteriosclerosis	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0001321	Cerebellar hypoplasia	1/5	OMIM:616570
2073	ERCC5	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:1466
2073	ERCC5	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:910
2073	ERCC5	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:910
2073	ERCC5	HP:0000175	Cleft palate	HP:0040283	OMIM:616570
2073	ERCC5	HP:0000135	Hypogonadism	HP:0040282	ORPHA:1466
2073	ERCC5	HP:0000135	Hypogonadism	HP:0040281	ORPHA:910
2073	ERCC5	HP:0001480	Freckling	HP:0040281	ORPHA:910
2073	ERCC5	HP:0007587	Numerous pigmented freckles	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:910
2073	ERCC5	HP:0003355	Aminoaciduria	HP:0040283	ORPHA:910
2073	ERCC5	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:910
2073	ERCC5	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:910
2073	ERCC5	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:910
2073	ERCC5	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:910
2073	ERCC5	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0002119	Ventriculomegaly	2/5	OMIM:616570
2073	ERCC5	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0003593	Infantile onset	1/1	OMIM:278780
2073	ERCC5	HP:0010649	Flat nasal alae	HP:0040283	ORPHA:910
2073	ERCC5	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:910
2073	ERCC5	HP:0001059	Pterygium	HP:0040283	ORPHA:910
2073	ERCC5	HP:0001034	Hypermelanotic macule	HP:0040282	ORPHA:910
2073	ERCC5	HP:0001029	Poikiloderma	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0001029	Poikiloderma	HP:0040281	ORPHA:910
2073	ERCC5	HP:0002376	Developmental regression	HP:0040281	ORPHA:910
2073	ERCC5	HP:0001009	Telangiectasia	HP:0040281	ORPHA:910
2073	ERCC5	HP:0001025	Urticaria	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0002353	EEG abnormality	HP:0040281	ORPHA:910
2073	ERCC5	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:910
2073	ERCC5	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:1466
2073	ERCC5	HP:0001072	Thickened skin	HP:0040281	ORPHA:910
2073	ERCC5	HP:0010783	Erythema	HP:0040282	ORPHA:910
2073	ERCC5	HP:0007108	Demyelinating peripheral neuropathy	HP:0040282	ORPHA:220295
2073	ERCC5	HP:0009755	Ankyloblepharon	HP:0040283	ORPHA:910
2073	ERCC5	HP:0003623	Neonatal onset	2/2	OMIM:278780
2073	ERCC5	HP:0006887	Intellectual disability, progressive	HP:0040281	ORPHA:910
2073	ERCC5	HP:0000639	Nystagmus	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0000651	Diplopia	HP:0040282	ORPHA:220295
2073	ERCC5	HP:0000648	Optic atrophy	HP:0040281	ORPHA:910
2073	ERCC5	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1466
2073	ERCC5	HP:0000648	Optic atrophy	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0000613	Photophobia	HP:0040283	ORPHA:910
2073	ERCC5	HP:0001945	Fever	HP:0040281	ORPHA:910
2073	ERCC5	HP:0000621	Entropion	HP:0040283	ORPHA:910
2073	ERCC5	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0000656	Ectropion	HP:0040283	ORPHA:910
2073	ERCC5	HP:0004322	Short stature	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0004322	Short stature	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0004322	Short stature	HP:0040283	ORPHA:910
2073	ERCC5	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0004334	Dermal atrophy	HP:0040282	ORPHA:910
2073	ERCC5	HP:0004326	Cachexia	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0003079	Defective DNA repair after ultraviolet radiation damage	1/1	OMIM:278780
2073	ERCC5	HP:0034198	Second trimester onset	5/5	OMIM:616570
2073	ERCC5	HP:0004337	Abnormality of amino acid metabolism	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0100012	Neoplasm of the eye	HP:0040283	ORPHA:910
2073	ERCC5	HP:0012733	Macule	HP:0040282	ORPHA:910
2073	ERCC5	HP:0012740	Papilloma	HP:0040282	ORPHA:910
2073	ERCC5	HP:0004493	Craniofacial hyperostosis	HP:0040283	ORPHA:910
2073	ERCC5	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:910
2073	ERCC5	HP:0000992	Cutaneous photosensitivity	-	OMIM:616570
2073	ERCC5	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:1466
2073	ERCC5	HP:0000992	Cutaneous photosensitivity	3/3	OMIM:278780
2073	ERCC5	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:910
2073	ERCC5	HP:0000988	Skin rash	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0000958	Dry skin	HP:0040281	ORPHA:910
2073	ERCC5	HP:0000958	Dry skin	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0000969	Edema	-	OMIM:616570
2073	ERCC5	HP:0000963	Thin skin	HP:0040281	ORPHA:910
2073	ERCC5	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:910
2073	ERCC5	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:1466
2073	ERCC5	HP:0001596	Alopecia	HP:0040283	ORPHA:910
2073	ERCC5	HP:0007759	Opacification of the corneal stroma	HP:0040283	ORPHA:910
2073	ERCC5	HP:0005105	Abnormal nasal morphology	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0002829	Arthralgia	HP:0040281	ORPHA:910
2073	ERCC5	HP:0002804	Arthrogryposis multiplex congenita	5/5	OMIM:616570
2073	ERCC5	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0000252	Microcephaly	5/5	OMIM:616570
2073	ERCC5	HP:0000252	Microcephaly	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0000252	Microcephaly	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0000252	Microcephaly	1/3	OMIM:278780
2073	ERCC5	HP:0000252	Microcephaly	HP:0040283	ORPHA:910
2073	ERCC5	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0001558	Decreased fetal movement	5/5	OMIM:616570
2073	ERCC5	HP:0002861	Melanoma	HP:0040282	ORPHA:220295
2073	ERCC5	HP:0002861	Melanoma	HP:0040282	ORPHA:910
2073	ERCC5	HP:0001522	Death in infancy	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0001508	Failure to thrive	HP:0040281	ORPHA:910
2073	ERCC5	HP:0001518	Small for gestational age	1/1	OMIM:278780
2073	ERCC5	HP:0001511	Intrauterine growth retardation	-	OMIM:616570
2073	ERCC5	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1466
2073	ERCC5	HP:0001510	Growth delay	HP:0040283	OMIM:278780
2073	ERCC5	HP:0012378	Fatigue	HP:0040281	ORPHA:910
2073	ERCC5	HP:0000365	Hearing impairment	HP:0040283	ORPHA:910
2073	ERCC5	HP:0000365	Hearing impairment	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0000369	Low-set ears	3/5	OMIM:616570
2073	ERCC5	HP:0000347	Micrognathia	3/5	OMIM:616570
2073	ERCC5	HP:0000347	Micrognathia	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0000498	Blepharitis	HP:0040283	ORPHA:910
2073	ERCC5	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:1466
2073	ERCC5	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:910
2073	ERCC5	HP:0000486	Strabismus	HP:0040282	ORPHA:910
2073	ERCC5	HP:0012469	Infantile spasms	1/1	OMIM:278780
2073	ERCC5	HP:0000491	Keratitis	HP:0040282	ORPHA:910
2073	ERCC5	HP:0000488	Retinopathy	HP:0040281	ORPHA:220295
2073	ERCC5	HP:0000470	Short neck	HP:0040282	ORPHA:1466
2073	ERCC5	HP:0001762	Talipes equinovarus	2/5	OMIM:616570
2073	ERCC5	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0001761	Pes cavus	HP:0040283	OMIM:278780
2073	ERCC5	HP:0006739	Squamous cell carcinoma of the skin	HP:0040282	ORPHA:220295
2073	ERCC5	HP:0005487	Prominent metopic ridge	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0000518	Cataract	1/1	OMIM:278780
2073	ERCC5	HP:0000518	Cataract	HP:0040282	ORPHA:910
2073	ERCC5	HP:0000518	Cataract	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0000524	Conjunctival telangiectasia	HP:0040281	ORPHA:910
2073	ERCC5	HP:0001838	Rocker bottom foot	3/5	OMIM:616570
2073	ERCC5	HP:0000505	Visual impairment	HP:0040282	ORPHA:1466
2073	ERCC5	HP:0000568	Microphthalmia	HP:0040283	OMIM:616570
2073	ERCC5	HP:0000568	Microphthalmia	1/3	OMIM:278780
2073	ERCC5	HP:0000568	Microphthalmia	HP:0040281	ORPHA:1466
2073	ERCC5	HP:0001883	Talipes	HP:0040283	ORPHA:1466
2074	ERCC6	HP:0002461	Cerebellar dentate nucleus calcification	HP:0040281	ORPHA:90324
2074	ERCC6	HP:0001105	Retinal atrophy	HP:0040284	ORPHA:90324
2074	ERCC6	HP:0002446	Astrocytosis	HP:0040281	ORPHA:90324
2074	ERCC6	HP:0008639	Gonadal hypoplasia	-	OMIM:278800
2074	ERCC6	HP:0007305	CNS demyelination	2/3	OMIM:214150
2074	ERCC6	HP:0008615	Adult onset sensorineural hearing impairment	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0032263	Increased blood pressure	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0002415	Leukodystrophy	2/2	OMIM:278800
2074	ERCC6	HP:0003758	Reduced subcutaneous adipose tissue	3/3	OMIM:133540
2074	ERCC6	HP:0001297	Stroke	HP:0040284	ORPHA:90324
2074	ERCC6	HP:0001276	Hypertonia	1/2	OMIM:278800
2074	ERCC6	HP:0001276	Hypertonia	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0001272	Cerebellar atrophy	1/3	OMIM:214150
2074	ERCC6	HP:0001271	Polyneuropathy	3/3	OMIM:133540
2074	ERCC6	HP:0001274	Agenesis of corpus callosum	-	OMIM:214150
2074	ERCC6	HP:0001268	Mental deterioration	2/2	OMIM:278800
2074	ERCC6	HP:0001288	Gait disturbance	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0001288	Gait disturbance	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0001288	Gait disturbance	HP:0040282	ORPHA:90322
2074	ERCC6	HP:0001284	Areflexia	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0001284	Areflexia	-	OMIM:278800
2074	ERCC6	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0001250	Seizure	-	OMIM:133540
2074	ERCC6	HP:0001250	Seizure	HP:0040282	ORPHA:1466
2074	ERCC6	HP:0001250	Seizure	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0001250	Seizure	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0001250	Seizure	2/3	OMIM:214150
2074	ERCC6	HP:0001252	Hypotonia	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0001252	Hypotonia	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0001252	Hypotonia	-	OMIM:214150
2074	ERCC6	HP:0001251	Ataxia	-	OMIM:133540
2074	ERCC6	HP:0001251	Ataxia	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0001251	Ataxia	HP:0040282	ORPHA:90322
2074	ERCC6	HP:0001251	Ataxia	1/2	OMIM:278800
2074	ERCC6	HP:0001249	Intellectual disability	-	OMIM:133540
2074	ERCC6	HP:0001249	Intellectual disability	HP:0040281	ORPHA:90321
2074	ERCC6	HP:0001249	Intellectual disability	HP:0040281	ORPHA:90322
2074	ERCC6	HP:0001249	Intellectual disability	2/2	OMIM:278800
2074	ERCC6	HP:0001265	Hyporeflexia	2/2	OMIM:278800
2074	ERCC6	HP:0001266	Choreoathetosis	-	OMIM:278800
2074	ERCC6	HP:0001263	Global developmental delay	3/3	OMIM:214150
2074	ERCC6	HP:0001263	Global developmental delay	2/2	OMIM:278800
2074	ERCC6	HP:0001257	Spasticity	-	OMIM:278800
2074	ERCC6	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0007352	Cerebellar calcifications	-	OMIM:133540
2074	ERCC6	HP:0008689	Bilateral cryptorchidism	1/1	OMIM:278800
2074	ERCC6	HP:0007346	Subcortical white matter calcifications	HP:0040281	ORPHA:90324
2074	ERCC6	HP:0007346	Subcortical white matter calcifications	-	OMIM:133540
2074	ERCC6	HP:0007346	Subcortical white matter calcifications	HP:0040281	ORPHA:90322
2074	ERCC6	HP:0010978	Abnormality of immune system physiology	HP:0040282	ORPHA:1466
2074	ERCC6	HP:0002542	Olivopontocerebellar atrophy	2/2	OMIM:278800
2074	ERCC6	HP:0002545	Patchy demyelination of subcortical white matter	-	OMIM:133540
2074	ERCC6	HP:0002545	Patchy demyelination of subcortical white matter	HP:0040281	ORPHA:90322
2074	ERCC6	HP:0002514	Cerebral calcification	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0002509	Limb hypertonia	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0002506	Diffuse cerebral atrophy	1/3	OMIM:214150
2074	ERCC6	HP:0003819	Death in childhood	3/3	OMIM:133540
2074	ERCC6	HP:0003819	Death in childhood	-	OMIM:214150
2074	ERCC6	HP:0000089	Renal hypoplasia	HP:0040284	ORPHA:90324
2074	ERCC6	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0000083	Renal insufficiency	-	OMIM:133540
2074	ERCC6	HP:0000093	Proteinuria	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0000093	Proteinuria	-	OMIM:133540
2074	ERCC6	HP:0000072	Hydroureter	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0001376	Limitation of joint mobility	-	OMIM:133540
2074	ERCC6	HP:0001371	Flexion contracture	HP:0040284	ORPHA:90324
2074	ERCC6	HP:0001371	Flexion contracture	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0001371	Flexion contracture	2/3	OMIM:214150
2074	ERCC6	HP:0000054	Micropenis	2/2	OMIM:133540
2074	ERCC6	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0002684	Thickened calvaria	-	OMIM:133540
2074	ERCC6	HP:0000016	Urinary retention	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0001347	Hyperreflexia	1/3	OMIM:214150
2074	ERCC6	HP:0000026	Male hypogonadism	HP:0040284	ORPHA:90321
2074	ERCC6	HP:0000026	Male hypogonadism	HP:0040284	ORPHA:90322
2074	ERCC6	HP:0000028	Cryptorchidism	-	OMIM:133540
2074	ERCC6	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:90321
2074	ERCC6	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:90322
2074	ERCC6	HP:0000028	Cryptorchidism	1/1	OMIM:214150
2074	ERCC6	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:90321
2074	ERCC6	HP:0008897	Postnatal growth retardation	-	OMIM:133540
2074	ERCC6	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0008839	Hypoplastic pelvis	-	OMIM:133540
2074	ERCC6	HP:0007495	Prematurely aged appearance	-	OMIM:133540
2074	ERCC6	HP:0002664	Neoplasm	-	OMIM:600630
2074	ERCC6	HP:0001324	Muscle weakness	-	OMIM:133540
2074	ERCC6	HP:0000011	Neurogenic bladder	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0002673	Coxa valga	-	OMIM:214150
2074	ERCC6	HP:0000007	Autosomal recessive inheritance	-	OMIM:133540
2074	ERCC6	HP:0000007	Autosomal recessive inheritance	-	OMIM:278800
2074	ERCC6	HP:0000007	Autosomal recessive inheritance	-	OMIM:600630
2074	ERCC6	HP:0000007	Autosomal recessive inheritance	-	OMIM:214150
2074	ERCC6	HP:0001337	Tremor	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0001337	Tremor	-	OMIM:133540
2074	ERCC6	HP:0000006	Autosomal dominant inheritance	-	OMIM:616946
2074	ERCC6	HP:0000006	Autosomal dominant inheritance	-	OMIM:211980
2074	ERCC6	HP:0002650	Scoliosis	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0002650	Scoliosis	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0002650	Scoliosis	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0001321	Cerebellar hypoplasia	-	OMIM:214150
2074	ERCC6	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:1466
2074	ERCC6	HP:0002616	Aortic root aneurysm	HP:0040284	ORPHA:90324
2074	ERCC6	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration	2/2	OMIM:278800
2074	ERCC6	HP:0000135	Hypogonadism	HP:0040282	ORPHA:1466
2074	ERCC6	HP:0001480	Freckling	1/1	OMIM:600630
2074	ERCC6	HP:0007676	Hypoplasia of the iris	-	OMIM:133540
2074	ERCC6	HP:0006334	Hypoplasia of the primary teeth	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0006334	Hypoplasia of the primary teeth	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0006313	Widely spaced primary teeth	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0006313	Widely spaced primary teeth	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0007623	Pigmentation anomalies of sun-exposed skin	1/1	OMIM:600630
2074	ERCC6	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0008936	Axial hypotonia	3/3	OMIM:214150
2074	ERCC6	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0000122	Unilateral renal agenesis	HP:0040284	ORPHA:90324
2074	ERCC6	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0001442	Typified by somatic mosaicism	-	OMIM:211980
2074	ERCC6	HP:0002751	Kyphoscoliosis	-	OMIM:214150
2074	ERCC6	HP:0004681	Deep longitudinal plantar crease	-	OMIM:214150
2074	ERCC6	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0002014	Diarrhea	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0002080	Intention tremor	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:278800
2074	ERCC6	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0002059	Cerebral atrophy	1/2	OMIM:278800
2074	ERCC6	HP:0002059	Cerebral atrophy	-	OMIM:133540
2074	ERCC6	HP:0008125	Second metatarsal posteriorly placed	-	OMIM:214150
2074	ERCC6	HP:0008110	Equinovarus deformity	2/2	OMIM:278800
2074	ERCC6	HP:0009473	Joint contracture of the hand	-	OMIM:214150
2074	ERCC6	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0003469	Peripheral dysmyelination	-	OMIM:133540
2074	ERCC6	HP:0003487	Babinski sign	2/2	OMIM:278800
2074	ERCC6	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0002119	Ventriculomegaly	1/2	OMIM:278800
2074	ERCC6	HP:0002119	Ventriculomegaly	1/3	OMIM:214150
2074	ERCC6	HP:0002135	Basal ganglia calcification	1/3	OMIM:214150
2074	ERCC6	HP:0002135	Basal ganglia calcification	-	OMIM:133540
2074	ERCC6	HP:0002135	Basal ganglia calcification	HP:0040281	ORPHA:90324
2074	ERCC6	HP:0002135	Basal ganglia calcification	HP:0040281	ORPHA:90321
2074	ERCC6	HP:0002135	Basal ganglia calcification	1/2	OMIM:278800
2074	ERCC6	HP:0002187	Intellectual disability, profound	-	OMIM:214150
2074	ERCC6	HP:0002180	Neurodegeneration	1/3	OMIM:214150
2074	ERCC6	HP:0002171	Gliosis	1/1	OMIM:214150
2074	ERCC6	HP:0002172	Postural instability	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0002172	Postural instability	HP:0040282	ORPHA:90322
2074	ERCC6	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0008232	Elevated circulating follicle stimulating hormone level	-	OMIM:616946
2074	ERCC6	HP:0003593	Infantile onset	5/15	OMIM:133540
2074	ERCC6	HP:0003593	Infantile onset	1/1	OMIM:600630
2074	ERCC6	HP:0003577	Congenital onset	7/18	OMIM:133540
2074	ERCC6	HP:0003577	Congenital onset	3/3	OMIM:214150
2074	ERCC6	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0002240	Hepatomegaly	-	OMIM:133540
2074	ERCC6	HP:0002216	Premature graying of hair	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0002283	Global brain atrophy	1/2	OMIM:278800
2074	ERCC6	HP:0008366	Foot joint contracture	HP:0040281	ORPHA:90321
2074	ERCC6	HP:0010665	Bilateral coxa valga	1/2	OMIM:278800
2074	ERCC6	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0003510	Severe short stature	-	OMIM:133540
2074	ERCC6	HP:0003510	Severe short stature	1/2	OMIM:278800
2074	ERCC6	HP:0001034	Hypermelanotic macule	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0001034	Hypermelanotic macule	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0001034	Hypermelanotic macule	2/2	OMIM:278800
2074	ERCC6	HP:0001036	Parakeratosis	1/2	OMIM:278800
2074	ERCC6	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0001029	Poikiloderma	-	OMIM:278800
2074	ERCC6	HP:0002344	Progressive neurologic deterioration	1/3	OMIM:214150
2074	ERCC6	HP:0002344	Progressive neurologic deterioration	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0002343	Normal pressure hydrocephalus	-	OMIM:133540
2074	ERCC6	HP:0001009	Telangiectasia	1/1	OMIM:600630
2074	ERCC6	HP:0001009	Telangiectasia	2/2	OMIM:278800
2074	ERCC6	HP:0001007	Hirsutism	-	OMIM:214150
2074	ERCC6	HP:0002317	Unsteady gait	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0001000	Abnormality of skin pigmentation	-	OMIM:133540
2074	ERCC6	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0009830	Peripheral neuropathy	1/2	OMIM:278800
2074	ERCC6	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:1466
2074	ERCC6	HP:0001097	Keratoconjunctivitis sicca	HP:0040284	ORPHA:90324
2074	ERCC6	HP:0100699	Scarring	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0100699	Scarring	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0007108	Demyelinating peripheral neuropathy	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0004934	Vascular calcification	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0000639	Nystagmus	-	OMIM:133540
2074	ERCC6	HP:0000639	Nystagmus	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0000639	Nystagmus	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0000639	Nystagmus	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0000639	Nystagmus	-	OMIM:214150
2074	ERCC6	HP:0000633	Decreased lacrimation	-	OMIM:133540
2074	ERCC6	HP:0000633	Decreased lacrimation	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0000649	Abnormality of visual evoked potentials	-	OMIM:133540
2074	ERCC6	HP:0000648	Optic atrophy	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0000648	Optic atrophy	1/2	OMIM:278800
2074	ERCC6	HP:0000648	Optic atrophy	-	OMIM:133540
2074	ERCC6	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1466
2074	ERCC6	HP:0000616	Miosis	1/3	OMIM:214150
2074	ERCC6	HP:0000613	Photophobia	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0000613	Photophobia	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0000613	Photophobia	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0001944	Dehydration	1/3	OMIM:214150
2074	ERCC6	HP:0001942	Metabolic acidosis	1/3	OMIM:214150
2074	ERCC6	HP:0000621	Entropion	-	OMIM:278800
2074	ERCC6	HP:0001903	Anemia	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0011359	Dry hair	-	OMIM:133540
2074	ERCC6	HP:0011359	Dry hair	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0000684	Delayed eruption of teeth	2/3	OMIM:214150
2074	ERCC6	HP:0000680	Delayed eruption of primary teeth	-	OMIM:133540
2074	ERCC6	HP:0000680	Delayed eruption of primary teeth	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0000680	Delayed eruption of primary teeth	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0000674	Anodontia	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0000674	Anodontia	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0000689	Dental malocclusion	-	OMIM:133540
2074	ERCC6	HP:0000685	Hypoplasia of teeth	-	OMIM:133540
2074	ERCC6	HP:0000656	Ectropion	-	OMIM:278800
2074	ERCC6	HP:0000670	Carious teeth	7/12	OMIM:133540
2074	ERCC6	HP:0000670	Carious teeth	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0000670	Carious teeth	1/3	OMIM:214150
2074	ERCC6	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:90321
2074	ERCC6	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:90322
2074	ERCC6	HP:0004322	Short stature	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0004334	Dermal atrophy	-	OMIM:133540
2074	ERCC6	HP:0004334	Dermal atrophy	-	OMIM:278800
2074	ERCC6	HP:0004302	Functional motor deficit	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0006958	Abnormal auditory evoked potentials	-	OMIM:133540
2074	ERCC6	HP:0003079	Defective DNA repair after ultraviolet radiation damage	-	OMIM:278800
2074	ERCC6	HP:0004370	Abnormality of temperature regulation	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0000762	Decreased nerve conduction velocity	-	OMIM:133540
2074	ERCC6	HP:0000707	Abnormality of the nervous system	0/1	OMIM:600630
2074	ERCC6	HP:0011463	Childhood onset	6/15	OMIM:133540
2074	ERCC6	HP:0011463	Childhood onset	2/2	OMIM:278800
2074	ERCC6	HP:0011462	Young adult onset	6/6	OMIM:616946
2074	ERCC6	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:90322
2074	ERCC6	HP:0012762	Cerebral white matter atrophy	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0100309	Subdural hemorrhage	HP:0040284	ORPHA:90324
2074	ERCC6	HP:0003134	Abnormality of peripheral nerve conduction	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0003134	Abnormality of peripheral nerve conduction	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0004463	Absent brainstem auditory responses	HP:0040281	ORPHA:90321
2074	ERCC6	HP:0003130	Abnormal peripheral myelination	-	OMIM:133540
2074	ERCC6	HP:0003138	Increased blood urea nitrogen	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0000876	Oligomenorrhea	-	OMIM:616946
2074	ERCC6	HP:0011527	Lentiglobus	HP:0040284	ORPHA:90324
2074	ERCC6	HP:0000855	Insulin resistance	1/3	OMIM:214150
2074	ERCC6	HP:0000869	Secondary amenorrhea	6/6	OMIM:616946
2074	ERCC6	HP:0012804	Corneal ulceration	HP:0040284	ORPHA:90324
2074	ERCC6	HP:0000822	Hypertension	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0000822	Hypertension	-	OMIM:133540
2074	ERCC6	HP:0010234	Ivory epiphyses of the phalanges of the hand	-	OMIM:133540
2074	ERCC6	HP:0040078	Axonal degeneration	1/2	OMIM:278800
2074	ERCC6	HP:0003224	Increased cellular sensitivity to UV light	-	OMIM:133540
2074	ERCC6	HP:0003224	Increased cellular sensitivity to UV light	-	OMIM:600630
2074	ERCC6	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0003278	Square pelvis bone	-	OMIM:133540
2074	ERCC6	HP:0000992	Cutaneous photosensitivity	-	OMIM:133540
2074	ERCC6	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:90321
2074	ERCC6	HP:0000992	Cutaneous photosensitivity	2/2	OMIM:600630
2074	ERCC6	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:1466
2074	ERCC6	HP:0000992	Cutaneous photosensitivity	2/2	OMIM:278800
2074	ERCC6	HP:0000987	Atypical scarring of skin	-	OMIM:133540
2074	ERCC6	HP:0000958	Dry skin	1/1	OMIM:600630
2074	ERCC6	HP:0000958	Dry skin	-	OMIM:133540
2074	ERCC6	HP:0000970	Anhidrosis	-	OMIM:133540
2074	ERCC6	HP:0000966	Hypohidrosis	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0000939	Osteoporosis	-	OMIM:214150
2074	ERCC6	HP:0000939	Osteoporosis	-	OMIM:133540
2074	ERCC6	HP:0008070	Sparse hair	-	OMIM:133540
2074	ERCC6	HP:0011675	Arrhythmia	-	OMIM:133540
2074	ERCC6	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:1466
2074	ERCC6	HP:0000292	Loss of facial adipose tissue	-	OMIM:133540
2074	ERCC6	HP:0001595	Abnormal hair morphology	-	OMIM:133540
2074	ERCC6	HP:0000276	Long face	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0000276	Long face	HP:0040282	ORPHA:90322
2074	ERCC6	HP:0007759	Opacification of the corneal stroma	-	OMIM:133540
2074	ERCC6	HP:0005105	Abnormal nasal morphology	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0030078	Lung adenocarcinoma	-	OMIM:211980
2074	ERCC6	HP:0002808	Kyphosis	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0002808	Kyphosis	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0002808	Kyphosis	2/3	OMIM:133540
2074	ERCC6	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:214150
2074	ERCC6	HP:0006380	Knee flexion contracture	-	OMIM:214150
2074	ERCC6	HP:0000253	Progressive microcephaly	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0000252	Microcephaly	3/3	OMIM:133540
2074	ERCC6	HP:0000252	Microcephaly	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0000252	Microcephaly	3/3	OMIM:214150
2074	ERCC6	HP:0000252	Microcephaly	2/2	OMIM:278800
2074	ERCC6	HP:0000233	Thin vermilion border	-	OMIM:214150
2074	ERCC6	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0002861	Melanoma	-	OMIM:278800
2074	ERCC6	HP:0001530	Mild postnatal growth retardation	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0001525	Severe failure to thrive	-	OMIM:133540
2074	ERCC6	HP:0001522	Death in infancy	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0002866	Hypoplastic iliac wing	-	OMIM:133540
2074	ERCC6	HP:0001508	Failure to thrive	3/3	OMIM:133540
2074	ERCC6	HP:0001508	Failure to thrive	HP:0040281	ORPHA:90321
2074	ERCC6	HP:0001508	Failure to thrive	3/3	OMIM:214150
2074	ERCC6	HP:0001518	Small for gestational age	3/3	OMIM:214150
2074	ERCC6	HP:0001518	Small for gestational age	-	OMIM:133540
2074	ERCC6	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:90322
2074	ERCC6	HP:0001511	Intrauterine growth retardation	3/3	OMIM:133540
2074	ERCC6	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1466
2074	ERCC6	HP:0012385	Camptodactyly	-	OMIM:214150
2074	ERCC6	HP:0000377	Abnormal pinna morphology	-	OMIM:133540
2074	ERCC6	HP:0006532	Recurrent pneumonia	3/3	OMIM:214150
2074	ERCC6	HP:0006519	Alveolar cell carcinoma	-	OMIM:211980
2074	ERCC6	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:90321
2074	ERCC6	HP:0005181	Premature coronary artery atherosclerosis	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0000365	Hearing impairment	HP:0040281	ORPHA:90321
2074	ERCC6	HP:0000365	Hearing impairment	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0000340	Sloping forehead	-	OMIM:214150
2074	ERCC6	HP:0000343	Long philtrum	-	OMIM:214150
2074	ERCC6	HP:0000347	Micrognathia	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0000347	Micrognathia	1/3	OMIM:214150
2074	ERCC6	HP:0000331	Short chin	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0000331	Short chin	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0000331	Short chin	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0002987	Elbow flexion contracture	-	OMIM:214150
2074	ERCC6	HP:0000325	Triangular face	3/3	OMIM:133540
2074	ERCC6	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:90324
2074	ERCC6	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:90322
2074	ERCC6	HP:0000303	Mandibular prognathia	-	OMIM:133540
2074	ERCC6	HP:0006610	Wide intermamillary distance	-	OMIM:214150
2074	ERCC6	HP:0005328	Progeroid facial appearance	-	OMIM:133540
2074	ERCC6	HP:0005328	Progeroid facial appearance	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0005328	Progeroid facial appearance	HP:0040282	ORPHA:90322
2074	ERCC6	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:133540
2074	ERCC6	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:1466
2074	ERCC6	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:278800
2074	ERCC6	HP:0000407	Sensorineural hearing impairment	1/3	OMIM:214150
2074	ERCC6	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0000400	Macrotia	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0000400	Macrotia	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0000400	Macrotia	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0000486	Strabismus	-	OMIM:133540
2074	ERCC6	HP:0000486	Strabismus	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0000486	Strabismus	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0000486	Strabismus	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0000486	Strabismus	1/2	OMIM:278800
2074	ERCC6	HP:0000482	Microcornea	-	OMIM:133540
2074	ERCC6	HP:0000482	Microcornea	HP:0040284	ORPHA:90324
2074	ERCC6	HP:0000491	Keratitis	-	OMIM:278800
2074	ERCC6	HP:0000490	Deeply set eye	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0000490	Deeply set eye	HP:0040281	ORPHA:90321
2074	ERCC6	HP:0000490	Deeply set eye	3/3	OMIM:214150
2074	ERCC6	HP:0000490	Deeply set eye	3/3	OMIM:133540
2074	ERCC6	HP:0000460	Narrow nose	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0012448	Delayed myelination	-	OMIM:214150
2074	ERCC6	HP:0012444	Brain atrophy	HP:0040282	ORPHA:90324
2074	ERCC6	HP:0012444	Brain atrophy	1/3	OMIM:214150
2074	ERCC6	HP:0012447	Abnormal myelination	HP:0040281	ORPHA:90324
2074	ERCC6	HP:0000470	Short neck	HP:0040282	ORPHA:1466
2074	ERCC6	HP:0000448	Prominent nose	2/3	OMIM:214150
2074	ERCC6	HP:0012407	Scissor gait	1/2	OMIM:278800
2074	ERCC6	HP:0000417	Slender nose	-	OMIM:133540
2074	ERCC6	HP:0001744	Splenomegaly	HP:0040284	ORPHA:90324
2074	ERCC6	HP:0001744	Splenomegaly	-	OMIM:133540
2074	ERCC6	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0000426	Prominent nasal bridge	-	OMIM:214150
2074	ERCC6	HP:0000426	Prominent nasal bridge	3/3	OMIM:133540
2074	ERCC6	HP:0005487	Prominent metopic ridge	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0000518	Cataract	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0000518	Cataract	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0000518	Cataract	2/3	OMIM:214150
2074	ERCC6	HP:0000518	Cataract	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0000519	Developmental cataract	8/14	OMIM:133540
2074	ERCC6	HP:0000519	Developmental cataract	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0000528	Anophthalmia	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0000528	Anophthalmia	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0001838	Rocker bottom foot	-	OMIM:214150
2074	ERCC6	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0000509	Conjunctivitis	-	OMIM:278800
2074	ERCC6	HP:0000505	Visual impairment	HP:0040282	ORPHA:90321
2074	ERCC6	HP:0000505	Visual impairment	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0000505	Visual impairment	HP:0040282	ORPHA:1466
2074	ERCC6	HP:0000598	Abnormality of the ear	-	OMIM:214150
2074	ERCC6	HP:0030358	Non-small cell lung carcinoma	-	OMIM:211980
2074	ERCC6	HP:0000581	Blepharophimosis	-	OMIM:214150
2074	ERCC6	HP:0000580	Pigmentary retinopathy	11/14	OMIM:133540
2074	ERCC6	HP:0000580	Pigmentary retinopathy	HP:0040281	ORPHA:90321
2074	ERCC6	HP:0000554	Uveitis	HP:0040283	ORPHA:90321
2074	ERCC6	HP:0000554	Uveitis	HP:0040283	ORPHA:90322
2074	ERCC6	HP:0000556	Retinal dystrophy	HP:0040284	ORPHA:90324
2074	ERCC6	HP:0000573	Retinal hemorrhage	HP:0040284	ORPHA:90324
2074	ERCC6	HP:0000568	Microphthalmia	HP:0040284	ORPHA:90324
2074	ERCC6	HP:0000568	Microphthalmia	3/3	OMIM:214150
2074	ERCC6	HP:0000568	Microphthalmia	-	OMIM:133540
2074	ERCC6	HP:0000568	Microphthalmia	HP:0040281	ORPHA:1466
2074	ERCC6	HP:0000540	Hypermetropia	HP:0040283	ORPHA:90324
2074	ERCC6	HP:0000540	Hypermetropia	-	OMIM:133540
2074	ERCC6	HP:0001883	Talipes	HP:0040283	ORPHA:1466
2074	ERCC6	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:90324
2074	ERCC6	HP:0000543	Optic disc pallor	HP:0040284	ORPHA:90324
2077	ERF	HP:0001156	Brachydactyly	5/5	OMIM:617180
2077	ERF	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2077	ERF	HP:0001293	Cranial nerve compression	-	OMIM:131300
2077	ERF	HP:0001290	Generalized hypotonia	1/5	OMIM:617180
2077	ERF	HP:0001270	Motor delay	4/6	OMIM:617180
2077	ERF	HP:0001252	Hypotonia	1/6	OMIM:617180
2077	ERF	HP:0001252	Hypotonia	2/7	OMIM:615777
2077	ERF	HP:0001249	Intellectual disability	5/7	OMIM:615777
2077	ERF	HP:0001263	Global developmental delay	1/1	OMIM:617180
2077	ERF	HP:0001263	Global developmental delay	-	OMIM:615777
2077	ERF	HP:0002515	Waddling gait	54/102	OMIM:131300
2077	ERF	HP:0002516	Increased intracranial pressure	9/26	OMIM:600775
2077	ERF	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:207
2077	ERF	HP:0001382	Joint hypermobility	-	OMIM:615777
2077	ERF	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2077	ERF	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2077	ERF	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2077	ERF	HP:0001324	Muscle weakness	40/96	OMIM:131300
2077	ERF	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2077	ERF	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2077	ERF	HP:0000006	Autosomal dominant inheritance	-	OMIM:600775
2077	ERF	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2077	ERF	HP:0000006	Autosomal dominant inheritance	-	OMIM:617180
2077	ERF	HP:0002650	Scoliosis	12/14	OMIM:131300
2077	ERF	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:207
2077	ERF	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2077	ERF	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2077	ERF	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2077	ERF	HP:0000189	Narrow palate	HP:0040283	ORPHA:207
2077	ERF	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2077	ERF	HP:0000175	Cleft palate	2/7	OMIM:615777
2077	ERF	HP:0002780	Bronchomalacia	2/6	OMIM:617180
2077	ERF	HP:0002779	Tracheomalacia	1/6	OMIM:617180
2077	ERF	HP:0002020	Gastroesophageal reflux	1/6	OMIM:617180
2077	ERF	HP:0002000	Short columella	-	OMIM:617180
2077	ERF	HP:0002007	Frontal bossing	HP:0040281	ORPHA:207
2077	ERF	HP:0011800	Midface retrusion	HP:0040282	ORPHA:207
2077	ERF	HP:0011800	Midface retrusion	4/26	OMIM:600775
2077	ERF	HP:0002098	Respiratory distress	6/6	OMIM:617180
2077	ERF	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:207
2077	ERF	HP:0003388	Easy fatigability	36/76	OMIM:131300
2077	ERF	HP:0011755	Ectopic posterior pituitary	1/2	OMIM:600775
2077	ERF	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2077	ERF	HP:0009577	Short middle phalanx of the 2nd finger	3/3	OMIM:617180
2077	ERF	HP:0009536	Short 2nd finger	2/2	OMIM:617180
2077	ERF	HP:0003593	Infantile onset	1/2	OMIM:600775
2077	ERF	HP:0003577	Congenital onset	1/4	OMIM:617180
2077	ERF	HP:0002205	Recurrent respiratory infections	3/6	OMIM:617180
2077	ERF	HP:0003510	Severe short stature	7/7	OMIM:615777
2077	ERF	HP:0007099	Chiari type I malformation	4/26	OMIM:600775
2077	ERF	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:207
2077	ERF	HP:0002315	Headache	-	OMIM:131300
2077	ERF	HP:0002315	Headache	HP:0040283	ORPHA:207
2077	ERF	HP:0004976	Knee dislocation	6/7	OMIM:615777
2077	ERF	HP:0009803	Short phalanx of finger	-	OMIM:615777
2077	ERF	HP:0009763	Limb pain	63/92	OMIM:131300
2077	ERF	HP:0003623	Neonatal onset	1/1	OMIM:617180
2077	ERF	HP:0002308	Chiari malformation	HP:0040282	ORPHA:207
2077	ERF	HP:0003621	Juvenile onset	-	OMIM:131300
2077	ERF	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2077	ERF	HP:0004209	Clinodactyly of the 5th finger	2/2	OMIM:617180
2077	ERF	HP:0004220	Short middle phalanx of the 5th finger	3/3	OMIM:617180
2077	ERF	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2077	ERF	HP:6001056	Out-toeing	-	OMIM:131300
2077	ERF	HP:0000651	Diplopia	-	OMIM:131300
2077	ERF	HP:0000646	Amblyopia	HP:0040283	ORPHA:207
2077	ERF	HP:0000648	Optic atrophy	HP:0040283	ORPHA:207
2077	ERF	HP:0000612	Iris coloboma	HP:0040283	ORPHA:207
2077	ERF	HP:0001956	Truncal obesity	2/7	OMIM:615777
2077	ERF	HP:0000609	Optic nerve hypoplasia	1/2	OMIM:600775
2077	ERF	HP:0001903	Anemia	HP:0040283	OMIM:131300
2077	ERF	HP:0010049	Short metacarpal	-	OMIM:615777
2077	ERF	HP:0011386	Narrow internal auditory canal	HP:0040283	ORPHA:207
2077	ERF	HP:0000678	Dental crowding	-	OMIM:615777
2077	ERF	HP:0011325	Pansynostosis	1/2	OMIM:600775
2077	ERF	HP:0011324	Multiple suture craniosynostosis	HP:0040281	ORPHA:207
2077	ERF	HP:0011330	Metopic synostosis	2/10	OMIM:600775
2077	ERF	HP:0011318	Bicoronal synostosis	1/2	OMIM:600775
2077	ERF	HP:0000670	Carious teeth	-	OMIM:131300
2077	ERF	HP:0011304	Broad thumb	2/7	OMIM:615777
2077	ERF	HP:0000668	Hypodontia	-	OMIM:615777
2077	ERF	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:207
2077	ERF	HP:0000664	Synophrys	-	OMIM:615777
2077	ERF	HP:0004322	Short stature	-	OMIM:617180
2077	ERF	HP:0031987	Diminished ability to concentrate	5/26	OMIM:600775
2077	ERF	HP:0004396	Poor appetite	-	OMIM:131300
2077	ERF	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2077	ERF	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2077	ERF	HP:0034197	Third trimester onset	3/4	OMIM:617180
2077	ERF	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2077	ERF	HP:0003026	Short long bone	7/7	OMIM:615777
2077	ERF	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2077	ERF	HP:0000767	Pectus excavatum	4/6	OMIM:617180
2077	ERF	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2077	ERF	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2077	ERF	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2077	ERF	HP:0000750	Delayed speech and language development	1/5	OMIM:617180
2077	ERF	HP:0000750	Delayed speech and language development	1/2	OMIM:600775
2077	ERF	HP:0000750	Delayed speech and language development	-	OMIM:615777
2077	ERF	HP:0011463	Childhood onset	1/2	OMIM:600775
2077	ERF	HP:0011461	Fetal onset	7/7	OMIM:615777
2077	ERF	HP:0010107	Short proximal phalanx of hallux	2/2	OMIM:617180
2077	ERF	HP:0000774	Narrow chest	2/7	OMIM:615777
2077	ERF	HP:0009110	Diaphragmatic eventration	1/6	OMIM:617180
2077	ERF	HP:0004443	Lambdoidal craniosynostosis	5/8	OMIM:600775
2077	ERF	HP:0004442	Sagittal craniosynostosis	7/8	OMIM:600775
2077	ERF	HP:0004440	Coronal craniosynostosis	3/8	OMIM:600775
2077	ERF	HP:0000929	Abnormal skull morphology	HP:0040281	ORPHA:207
2077	ERF	HP:0000926	Platyspondyly	1/7	OMIM:615777
2077	ERF	HP:0003180	Flat acetabular roof	-	OMIM:615777
2077	ERF	HP:0004482	Relative macrocephaly	-	OMIM:615777
2077	ERF	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2077	ERF	HP:0000823	Delayed puberty	-	OMIM:131300
2077	ERF	HP:0000894	Short clavicles	-	OMIM:615777
2077	ERF	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2077	ERF	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:207
2077	ERF	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2077	ERF	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:207
2077	ERF	HP:0000286	Epicanthus	1/7	OMIM:615777
2077	ERF	HP:0000280	Coarse facial features	2/7	OMIM:615777
2077	ERF	HP:0000278	Retrognathia	2/2	OMIM:600775
2077	ERF	HP:0000262	Turricephaly	HP:0040282	ORPHA:207
2077	ERF	HP:0000256	Macrocephaly	7/26	OMIM:600775
2077	ERF	HP:0000272	Malar flattening	5/28	OMIM:600775
2077	ERF	HP:0005107	Abnormal sacrum morphology	HP:0040283	ORPHA:207
2077	ERF	HP:0002827	Hip dislocation	3/7	OMIM:615777
2077	ERF	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:207
2077	ERF	HP:0000252	Microcephaly	-	OMIM:615777
2077	ERF	HP:0000248	Brachycephaly	HP:0040282	ORPHA:207
2077	ERF	HP:0001561	Polyhydramnios	3/6	OMIM:617180
2077	ERF	HP:0002857	Genu valgum	-	OMIM:131300
2077	ERF	HP:0001533	Slender build	-	OMIM:131300
2077	ERF	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2077	ERF	HP:0007807	Optic nerve compression	-	OMIM:131300
2077	ERF	HP:0012368	Flat face	7/7	OMIM:615777
2077	ERF	HP:0000396	Overfolded helix	1/6	OMIM:617180
2077	ERF	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2077	ERF	HP:0000365	Hearing impairment	HP:0040283	ORPHA:207
2077	ERF	HP:0000365	Hearing impairment	10/67	OMIM:131300
2077	ERF	HP:0000341	Narrow forehead	1/6	OMIM:617180
2077	ERF	HP:0000343	Long philtrum	1/6	OMIM:617180
2077	ERF	HP:0000343	Long philtrum	1/7	OMIM:615777
2077	ERF	HP:0011001	Increased bone mineral density	-	OMIM:131300
2077	ERF	HP:0000348	High forehead	HP:0040281	ORPHA:207
2077	ERF	HP:0000316	Hypertelorism	HP:0040282	ORPHA:207
2077	ERF	HP:0000316	Hypertelorism	5/5	OMIM:617180
2077	ERF	HP:0000316	Hypertelorism	16/28	OMIM:600775
2077	ERF	HP:0001643	Patent ductus arteriosus	2/6	OMIM:617180
2077	ERF	HP:0000311	Round face	2/7	OMIM:615777
2077	ERF	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:207
2077	ERF	HP:0002970	Genu varum	-	OMIM:615777
2077	ERF	HP:0000303	Mandibular prognathia	-	OMIM:131300
2077	ERF	HP:0032965	Interstitial emphysema	1/6	OMIM:617180
2077	ERF	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:207
2077	ERF	HP:0005280	Depressed nasal bridge	4/4	OMIM:617180
2077	ERF	HP:0005280	Depressed nasal bridge	1/2	OMIM:600775
2077	ERF	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2077	ERF	HP:0000486	Strabismus	HP:0040282	ORPHA:207
2077	ERF	HP:0012471	Thick vermilion border	1/1	OMIM:617180
2077	ERF	HP:0000463	Anteverted nares	3/6	OMIM:617180
2077	ERF	HP:0000470	Short neck	1/7	OMIM:615777
2077	ERF	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2077	ERF	HP:0001763	Pes planus	1/7	OMIM:615777
2077	ERF	HP:0000453	Choanal atresia	HP:0040283	ORPHA:207
2077	ERF	HP:0000444	Convex nasal ridge	HP:0040283	ORPHA:207
2077	ERF	HP:0000431	Wide nasal bridge	2/6	OMIM:617180
2077	ERF	HP:0005469	Flat occiput	1/6	OMIM:617180
2077	ERF	HP:0001840	Metatarsus adductus	-	OMIM:615777
2077	ERF	HP:0000520	Proptosis	7/28	OMIM:600775
2077	ERF	HP:0000520	Proptosis	2/4	OMIM:131300
2077	ERF	HP:0000520	Proptosis	7/7	OMIM:615777
2077	ERF	HP:0000520	Proptosis	HP:0040282	ORPHA:207
2077	ERF	HP:0000520	Proptosis	2/6	OMIM:617180
2077	ERF	HP:0001822	Hallux valgus	5/5	OMIM:617180
2077	ERF	HP:0000509	Conjunctivitis	HP:0040282	ORPHA:207
2077	ERF	HP:0000508	Ptosis	HP:0040282	ORPHA:207
2077	ERF	HP:0030367	Finger hyperphalangy	2/6	OMIM:617180
2077	ERF	HP:0000592	Blue sclerae	2/7	OMIM:615777
2077	ERF	HP:0011220	Prominent forehead	-	OMIM:600775
2077	ERF	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2077	ERF	HP:0012514	Lower limb pain	4/4	OMIM:131300
2078	ERG	HP:0000006	Autosomal dominant inheritance	-	OMIM:620602
2078	ERG	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
2078	ERG	HP:0002619	Varicose veins	-	OMIM:153400
2078	ERG	HP:0000175	Cleft palate	5/39	OMIM:153400
2078	ERG	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
2078	ERG	HP:0009743	Distichiasis	42/42	OMIM:153400
2078	ERG	HP:0001004	Lymphedema	-	OMIM:620602
2078	ERG	HP:0001004	Lymphedema	-	OMIM:153400
2078	ERG	HP:0100658	Cellulitis	2/6	OMIM:153400
2078	ERG	HP:0000613	Photophobia	10/49	OMIM:153400
2078	ERG	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
2078	ERG	HP:0000656	Ectropion	2/43	OMIM:153400
2078	ERG	HP:0003011	Abnormality of the musculature	-	OMIM:153400
2078	ERG	HP:0012804	Corneal ulceration	-	OMIM:153400
2078	ERG	HP:0010310	Chylothorax	1/6	OMIM:153400
2078	ERG	HP:0011675	Arrhythmia	-	OMIM:153400
2078	ERG	HP:0002808	Kyphosis	2/5	OMIM:153400
2078	ERG	HP:0000204	Cleft upper lip	-	OMIM:153400
2078	ERG	HP:0000347	Micrognathia	2/5	OMIM:153400
2078	ERG	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
2078	ERG	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
2078	ERG	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
2078	ERG	HP:0000476	Cystic hygroma	2/43	OMIM:153400
2078	ERG	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
2078	ERG	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
2078	ERG	HP:0000465	Webbed neck	6/43	OMIM:153400
2078	ERG	HP:0000509	Conjunctivitis	-	OMIM:153400
2078	ERG	HP:0000508	Ptosis	2/39	OMIM:153400
2078	ERG	HP:0000568	Microphthalmia	1/6	OMIM:153400
2099	ESR1	HP:0025134	Increased serum estradiol	1/1	OMIM:615363
2099	ESR1	HP:0003799	Marked delay in bone age	HP:0040281	ORPHA:785
2099	ESR1	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:785
2099	ESR1	HP:0008675	Enlarged polycystic ovaries	HP:0040281	ORPHA:785
2099	ESR1	HP:0000098	Tall stature	HP:0040281	ORPHA:785
2099	ESR1	HP:0002663	Delayed epiphyseal ossification	HP:0040281	ORPHA:785
2099	ESR1	HP:0000013	Hypoplasia of the uterus	HP:0040281	ORPHA:785
2099	ESR1	HP:0000013	Hypoplasia of the uterus	1/1	OMIM:615363
2099	ESR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615363
2099	ESR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
2099	ESR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:157300
2099	ESR1	HP:0000147	Polycystic ovaries	1/1	OMIM:615363
2099	ESR1	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
2099	ESR1	HP:0002750	Delayed skeletal maturation	1/1	OMIM:615363
2099	ESR1	HP:0002018	Nausea	-	OMIM:157300
2099	ESR1	HP:0002013	Vomiting	-	OMIM:157300
2099	ESR1	HP:0002083	Migraine without aura	-	OMIM:157300
2099	ESR1	HP:0002077	Migraine with aura	-	OMIM:157300
2099	ESR1	HP:0040270	Impaired glucose tolerance	-	OMIM:615363
2099	ESR1	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:785
2099	ESR1	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:785
2099	ESR1	HP:0002183	Phonophobia	-	OMIM:157300
2099	ESR1	HP:0100783	Breast aplasia	1/1	OMIM:615363
2099	ESR1	HP:0010679	Elevated tissue non-specific alkaline phosphatase	HP:0040282	ORPHA:785
2099	ESR1	HP:0010639	Elevated alkaline phosphatase of bone origin	1/1	OMIM:615363
2099	ESR1	HP:0001061	Acne	HP:0040282	ORPHA:785
2099	ESR1	HP:0001061	Acne	1/1	OMIM:615363
2099	ESR1	HP:0003621	Juvenile onset	1/1	OMIM:615363
2099	ESR1	HP:0100133	Abnormality of the pubic hair	-	ORPHA:785
2099	ESR1	HP:0000613	Photophobia	-	OMIM:157300
2099	ESR1	HP:0001952	Glucose intolerance	HP:0040282	ORPHA:785
2099	ESR1	HP:0001952	Glucose intolerance	-	OMIM:615363
2099	ESR1	HP:0003002	Breast carcinoma	-	OMIM:114480
2099	ESR1	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:785
2099	ESR1	HP:0000786	Primary amenorrhea	1/1	OMIM:615363
2099	ESR1	HP:0003117	Abnormal circulating hormone concentration	HP:0040281	ORPHA:785
2099	ESR1	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:785
2099	ESR1	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:785
2099	ESR1	HP:0000834	Abnormality of the adrenal glands	-	ORPHA:785
2099	ESR1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:785
2099	ESR1	HP:0000842	Hyperinsulinemia	-	OMIM:615363
2099	ESR1	HP:0000823	Delayed puberty	1/1	OMIM:615363
2099	ESR1	HP:0000956	Acanthosis nigricans	HP:0040282	ORPHA:785
2099	ESR1	HP:0000956	Acanthosis nigricans	-	OMIM:615363
2099	ESR1	HP:0000939	Osteoporosis	HP:0040281	ORPHA:785
2099	ESR1	HP:0000938	Osteopenia	1/1	OMIM:615363
2099	ESR1	HP:0000938	Osteopenia	HP:0040281	ORPHA:785
2099	ESR1	HP:0030087	Abnormal circulating testosterone concentration	-	ORPHA:785
2099	ESR1	HP:0001548	Overgrowth	HP:0040281	ORPHA:785
2099	ESR1	HP:0031428	Increased circulating osteocalcin level	1/1	OMIM:615363
2099	ESR1	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:785
2100	ESR2	HP:0003782	Eunuchoid habitus	1/1	OMIM:618187
2100	ESR2	HP:0000059	Hypoplastic labia majora	1/1	OMIM:618187
2100	ESR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618187
2100	ESR2	HP:0031103	Decreased circulating antimullerian hormone circulation	1/1	OMIM:618187
2100	ESR2	HP:0008232	Elevated circulating follicle stimulating hormone level	1/1	OMIM:618187
2100	ESR2	HP:0008214	Decreased serum estradiol	1/1	OMIM:618187
2100	ESR2	HP:0011969	Elevated circulating luteinizing hormone level	1/1	OMIM:618187
2100	ESR2	HP:0000786	Primary amenorrhea	1/1	OMIM:618187
2100	ESR2	HP:0000939	Osteoporosis	1/1	OMIM:618187
2100	ESR2	HP:0025708	Early young adult onset	1/1	OMIM:618187
2103	ESRRB	HP:0000007	Autosomal recessive inheritance	-	OMIM:608565
2103	ESRRB	HP:0003577	Congenital onset	-	OMIM:608565
2103	ESRRB	HP:0000407	Sensorineural hearing impairment	8/8	OMIM:608565
2103	ESRRB	HP:0031703	Abnormal ear morphology	0/8	OMIM:608565
2103	ESRRB	HP:0000504	Abnormality of vision	0/8	OMIM:608565
2108	ETFA	HP:0001252	Hypotonia	-	OMIM:231680
2108	ETFA	HP:0003811	Neonatal death	-	OMIM:231680
2108	ETFA	HP:0001397	Hepatic steatosis	-	OMIM:231680
2108	ETFA	HP:0000078	Abnormality of the genital system	-	OMIM:231680
2108	ETFA	HP:0001324	Muscle weakness	-	OMIM:231680
2108	ETFA	HP:0001325	Hypoglycemic coma	-	OMIM:231680
2108	ETFA	HP:0000007	Autosomal recessive inheritance	-	OMIM:231680
2108	ETFA	HP:0001302	Pachygyria	-	OMIM:231680
2108	ETFA	HP:0002614	Hepatic periportal necrosis	-	OMIM:231680
2108	ETFA	HP:0000114	Proximal tubulopathy	-	OMIM:231680
2108	ETFA	HP:0000113	Polycystic kidney dysplasia	-	OMIM:231680
2108	ETFA	HP:0002018	Nausea	-	OMIM:231680
2108	ETFA	HP:0002013	Vomiting	-	OMIM:231680
2108	ETFA	HP:0002089	Pulmonary hypoplasia	-	OMIM:231680
2108	ETFA	HP:0002098	Respiratory distress	-	OMIM:231680
2108	ETFA	HP:0002171	Gliosis	-	OMIM:231680
2108	ETFA	HP:0002240	Hepatomegaly	-	OMIM:231680
2108	ETFA	HP:0003530	Elevated circulating glutaric acid concentration	-	OMIM:231680
2108	ETFA	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	-	OMIM:231680
2108	ETFA	HP:0001943	Hypoglycemia	-	OMIM:231680
2108	ETFA	HP:0001941	Acidosis	-	OMIM:231680
2108	ETFA	HP:0001999	Abnormal facial shape	-	OMIM:231680
2108	ETFA	HP:0003076	Glycosuria	-	OMIM:231680
2108	ETFA	HP:0000803	Renal cortical cysts	-	OMIM:231680
2108	ETFA	HP:0003150	Glutaric aciduria	-	OMIM:231680
2108	ETFA	HP:0003219	Ethylmalonic aciduria	-	OMIM:231680
2108	ETFA	HP:0000952	Jaundice	-	OMIM:231680
2108	ETFA	HP:0000260	Wide anterior fontanel	-	OMIM:231680
2108	ETFA	HP:0000256	Macrocephaly	-	OMIM:231680
2108	ETFA	HP:0000377	Abnormal pinna morphology	-	OMIM:231680
2108	ETFA	HP:0002909	Generalized aminoaciduria	-	OMIM:231680
2108	ETFA	HP:0000348	High forehead	-	OMIM:231680
2108	ETFA	HP:0005280	Depressed nasal bridge	-	OMIM:231680
2108	ETFA	HP:0025734	Elevated urinary 5-hydroxyhexanoic acid level	-	OMIM:231680
2108	ETFA	HP:0000519	Developmental cataract	-	OMIM:231680
2108	ETFA	HP:0000506	Telecanthus	-	OMIM:231680
2109	ETFB	HP:0001252	Hypotonia	-	OMIM:231680
2109	ETFB	HP:0003811	Neonatal death	-	OMIM:231680
2109	ETFB	HP:0001397	Hepatic steatosis	-	OMIM:231680
2109	ETFB	HP:0000078	Abnormality of the genital system	-	OMIM:231680
2109	ETFB	HP:0001324	Muscle weakness	-	OMIM:231680
2109	ETFB	HP:0001325	Hypoglycemic coma	-	OMIM:231680
2109	ETFB	HP:0000007	Autosomal recessive inheritance	-	OMIM:231680
2109	ETFB	HP:0001302	Pachygyria	-	OMIM:231680
2109	ETFB	HP:0002614	Hepatic periportal necrosis	-	OMIM:231680
2109	ETFB	HP:0000114	Proximal tubulopathy	-	OMIM:231680
2109	ETFB	HP:0000113	Polycystic kidney dysplasia	-	OMIM:231680
2109	ETFB	HP:0002018	Nausea	-	OMIM:231680
2109	ETFB	HP:0002013	Vomiting	-	OMIM:231680
2109	ETFB	HP:0002089	Pulmonary hypoplasia	-	OMIM:231680
2109	ETFB	HP:0002098	Respiratory distress	-	OMIM:231680
2109	ETFB	HP:0002171	Gliosis	-	OMIM:231680
2109	ETFB	HP:0002240	Hepatomegaly	-	OMIM:231680
2109	ETFB	HP:0003530	Elevated circulating glutaric acid concentration	-	OMIM:231680
2109	ETFB	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	-	OMIM:231680
2109	ETFB	HP:0001943	Hypoglycemia	-	OMIM:231680
2109	ETFB	HP:0001941	Acidosis	-	OMIM:231680
2109	ETFB	HP:0001999	Abnormal facial shape	-	OMIM:231680
2109	ETFB	HP:0003076	Glycosuria	-	OMIM:231680
2109	ETFB	HP:0000803	Renal cortical cysts	-	OMIM:231680
2109	ETFB	HP:0003150	Glutaric aciduria	-	OMIM:231680
2109	ETFB	HP:0003219	Ethylmalonic aciduria	-	OMIM:231680
2109	ETFB	HP:0000952	Jaundice	-	OMIM:231680
2109	ETFB	HP:0000260	Wide anterior fontanel	-	OMIM:231680
2109	ETFB	HP:0000256	Macrocephaly	-	OMIM:231680
2109	ETFB	HP:0000377	Abnormal pinna morphology	-	OMIM:231680
2109	ETFB	HP:0002909	Generalized aminoaciduria	-	OMIM:231680
2109	ETFB	HP:0000348	High forehead	-	OMIM:231680
2109	ETFB	HP:0005280	Depressed nasal bridge	-	OMIM:231680
2109	ETFB	HP:0025734	Elevated urinary 5-hydroxyhexanoic acid level	-	OMIM:231680
2109	ETFB	HP:0000519	Developmental cataract	-	OMIM:231680
2109	ETFB	HP:0000506	Telecanthus	-	OMIM:231680
2110	ETFDH	HP:0001252	Hypotonia	-	OMIM:231680
2110	ETFDH	HP:0003811	Neonatal death	-	OMIM:231680
2110	ETFDH	HP:0001397	Hepatic steatosis	-	OMIM:231680
2110	ETFDH	HP:0000078	Abnormality of the genital system	-	OMIM:231680
2110	ETFDH	HP:0001324	Muscle weakness	-	OMIM:231680
2110	ETFDH	HP:0001325	Hypoglycemic coma	-	OMIM:231680
2110	ETFDH	HP:0000007	Autosomal recessive inheritance	-	OMIM:231680
2110	ETFDH	HP:0001302	Pachygyria	-	OMIM:231680
2110	ETFDH	HP:0002614	Hepatic periportal necrosis	-	OMIM:231680
2110	ETFDH	HP:0000114	Proximal tubulopathy	-	OMIM:231680
2110	ETFDH	HP:0000113	Polycystic kidney dysplasia	-	OMIM:231680
2110	ETFDH	HP:0002018	Nausea	-	OMIM:231680
2110	ETFDH	HP:0002013	Vomiting	-	OMIM:231680
2110	ETFDH	HP:0002089	Pulmonary hypoplasia	-	OMIM:231680
2110	ETFDH	HP:0002098	Respiratory distress	-	OMIM:231680
2110	ETFDH	HP:0002171	Gliosis	-	OMIM:231680
2110	ETFDH	HP:0002240	Hepatomegaly	-	OMIM:231680
2110	ETFDH	HP:0003530	Elevated circulating glutaric acid concentration	-	OMIM:231680
2110	ETFDH	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	-	OMIM:231680
2110	ETFDH	HP:0001943	Hypoglycemia	-	OMIM:231680
2110	ETFDH	HP:0001941	Acidosis	-	OMIM:231680
2110	ETFDH	HP:0001999	Abnormal facial shape	-	OMIM:231680
2110	ETFDH	HP:0003076	Glycosuria	-	OMIM:231680
2110	ETFDH	HP:0000803	Renal cortical cysts	-	OMIM:231680
2110	ETFDH	HP:0003150	Glutaric aciduria	-	OMIM:231680
2110	ETFDH	HP:0003219	Ethylmalonic aciduria	-	OMIM:231680
2110	ETFDH	HP:0000952	Jaundice	-	OMIM:231680
2110	ETFDH	HP:0000260	Wide anterior fontanel	-	OMIM:231680
2110	ETFDH	HP:0000256	Macrocephaly	-	OMIM:231680
2110	ETFDH	HP:0000377	Abnormal pinna morphology	-	OMIM:231680
2110	ETFDH	HP:0002909	Generalized aminoaciduria	-	OMIM:231680
2110	ETFDH	HP:0000348	High forehead	-	OMIM:231680
2110	ETFDH	HP:0005280	Depressed nasal bridge	-	OMIM:231680
2110	ETFDH	HP:0025734	Elevated urinary 5-hydroxyhexanoic acid level	-	OMIM:231680
2110	ETFDH	HP:0000519	Developmental cataract	-	OMIM:231680
2110	ETFDH	HP:0000506	Telecanthus	-	OMIM:231680
2113	ETS1	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
2113	ETS1	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
2113	ETS1	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
2113	ETS1	HP:0001250	Seizure	HP:0040283	ORPHA:536
2113	ETS1	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
2113	ETS1	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
2113	ETS1	HP:0001369	Arthritis	HP:0040282	ORPHA:536
2113	ETS1	HP:0033834	Malaise	HP:0040281	ORPHA:536
2113	ETS1	HP:0012085	Pyuria	HP:0040282	ORPHA:536
2113	ETS1	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
2113	ETS1	HP:0025300	Malar rash	HP:0040282	ORPHA:536
2113	ETS1	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
2113	ETS1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
2113	ETS1	HP:0002072	Chorea	HP:0040284	ORPHA:536
2113	ETS1	HP:0002039	Anorexia	HP:0040281	ORPHA:536
2113	ETS1	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
2113	ETS1	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
2113	ETS1	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
2113	ETS1	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
2113	ETS1	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
2113	ETS1	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
2113	ETS1	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
2113	ETS1	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
2113	ETS1	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
2113	ETS1	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
2113	ETS1	HP:0001945	Fever	HP:0040281	ORPHA:536
2113	ETS1	HP:0000716	Depression	HP:0040283	ORPHA:536
2113	ETS1	HP:0000790	Hematuria	HP:0040282	ORPHA:536
2113	ETS1	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
2113	ETS1	HP:0000822	Hypertension	HP:0040282	ORPHA:536
2113	ETS1	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
2113	ETS1	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
2113	ETS1	HP:0045073	Serositis	HP:0040283	ORPHA:536
2113	ETS1	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
2113	ETS1	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
2113	ETS1	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
2113	ETS1	HP:0001596	Alopecia	HP:0040282	ORPHA:536
2113	ETS1	HP:0012378	Fatigue	HP:0040281	ORPHA:536
2113	ETS1	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
2113	ETS1	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
2113	ETS1	HP:0001824	Weight loss	HP:0040281	ORPHA:536
2113	ETS1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
2113	ETS1	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
2113	ETS1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
2120	ETV6	HP:0000006	Autosomal dominant inheritance	-	OMIM:616216
2120	ETV6	HP:0000006	Autosomal dominant inheritance	-	OMIM:601626
2120	ETV6	HP:0001442	Typified by somatic mosaicism	-	OMIM:601626
2120	ETV6	HP:0004812	B Acute Lymphoblastic Leukemia	3/10	OMIM:616216
2120	ETV6	HP:0004808	Acute myeloid leukemia	-	OMIM:601626
2120	ETV6	HP:0005518	Increased mean corpuscular volume	10/10	OMIM:616216
2120	ETV6	HP:0001903	Anemia	1/13	OMIM:616216
2120	ETV6	HP:0000978	Bruising susceptibility	-	OMIM:616216
2120	ETV6	HP:0000967	Petechiae	-	OMIM:616216
2120	ETV6	HP:0000421	Epistaxis	-	OMIM:616216
2120	ETV6	HP:0001873	Thrombocytopenia	23/23	OMIM:616216
2120	ETV6	HP:0001875	Decreased total neutrophil count	2/13	OMIM:616216
2121	EVC	HP:0002488	Acute leukemia	HP:0040283	ORPHA:289
2121	EVC	HP:0001156	Brachydactyly	-	OMIM:193530
2121	EVC	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:952
2121	EVC	HP:0001162	Postaxial hand polydactyly	-	OMIM:193530
2121	EVC	HP:0001162	Postaxial hand polydactyly	-	OMIM:225500
2121	EVC	HP:0001161	Hand polydactyly	HP:0040281	ORPHA:289
2121	EVC	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:289
2121	EVC	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2121	EVC	HP:0001293	Cranial nerve compression	-	OMIM:131300
2121	EVC	HP:0001252	Hypotonia	2/7	OMIM:615777
2121	EVC	HP:0001249	Intellectual disability	HP:0040283	ORPHA:289
2121	EVC	HP:0001249	Intellectual disability	HP:0040283	OMIM:225500
2121	EVC	HP:0001249	Intellectual disability	5/7	OMIM:615777
2121	EVC	HP:0001263	Global developmental delay	-	OMIM:615777
2121	EVC	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:289
2121	EVC	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:952
2121	EVC	HP:0001241	Capitate-hamate fusion	HP:0040282	ORPHA:289
2121	EVC	HP:0001241	Capitate-hamate fusion	-	OMIM:225500
2121	EVC	HP:0006035	Cone-shaped epiphyses of phalanges 2 to 5	-	OMIM:225500
2121	EVC	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:289
2121	EVC	HP:0002515	Waddling gait	54/102	OMIM:131300
2121	EVC	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:289
2121	EVC	HP:0000072	Hydroureter	HP:0040283	ORPHA:289
2121	EVC	HP:0000069	Abnormality of the ureter	HP:0040282	ORPHA:289
2121	EVC	HP:0000039	Epispadias	HP:0040282	ORPHA:289
2121	EVC	HP:0000039	Epispadias	-	OMIM:225500
2121	EVC	HP:0001382	Joint hypermobility	-	OMIM:615777
2121	EVC	HP:0000047	Hypospadias	HP:0040282	ORPHA:289
2121	EVC	HP:0000047	Hypospadias	-	OMIM:225500
2121	EVC	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2121	EVC	HP:0000028	Cryptorchidism	-	OMIM:225500
2121	EVC	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:289
2121	EVC	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2121	EVC	HP:0008873	Disproportionate short-limb short stature	-	OMIM:225500
2121	EVC	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2121	EVC	HP:0001324	Muscle weakness	40/96	OMIM:131300
2121	EVC	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2121	EVC	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:289
2121	EVC	HP:0000007	Autosomal recessive inheritance	-	OMIM:225500
2121	EVC	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2121	EVC	HP:0000006	Autosomal dominant inheritance	-	OMIM:193530
2121	EVC	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2121	EVC	HP:0001305	Dandy-Walker malformation	-	OMIM:225500
2121	EVC	HP:0002650	Scoliosis	12/14	OMIM:131300
2121	EVC	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2121	EVC	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040282	ORPHA:289
2121	EVC	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2121	EVC	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2121	EVC	HP:0008921	Neonatal short-limb short stature	HP:0040281	ORPHA:289
2121	EVC	HP:0008921	Neonatal short-limb short stature	-	OMIM:225500
2121	EVC	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2121	EVC	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:289
2121	EVC	HP:0000190	Abnormal oral frenulum morphology	HP:0040281	ORPHA:952
2121	EVC	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:289
2121	EVC	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:952
2121	EVC	HP:0000175	Cleft palate	2/7	OMIM:615777
2121	EVC	HP:0006315	Solitary median maxillary central incisor	-	OMIM:193530
2121	EVC	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:952
2121	EVC	HP:0006288	Advanced eruption of teeth	HP:0040281	ORPHA:952
2121	EVC	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:289
2121	EVC	HP:0002006	Tessier cleft	HP:0040282	ORPHA:952
2121	EVC	HP:0002097	Emphysema	HP:0040283	ORPHA:289
2121	EVC	HP:0003388	Easy fatigability	36/76	OMIM:131300
2121	EVC	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2121	EVC	HP:0010454	Acetabular spurs	-	OMIM:225500
2121	EVC	HP:0002164	Nail dysplasia	HP:0040281	ORPHA:289
2121	EVC	HP:0002164	Nail dysplasia	-	OMIM:193530
2121	EVC	HP:0002164	Nail dysplasia	-	OMIM:225500
2121	EVC	HP:0010557	Overlapping fingers	HP:0040282	ORPHA:952
2121	EVC	HP:0011830	Abnormal oral mucosa morphology	HP:0040281	ORPHA:289
2121	EVC	HP:0009738	Abnormal antihelix morphology	HP:0040282	ORPHA:952
2121	EVC	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:952
2121	EVC	HP:0100797	Toenail dysplasia	HP:0040281	ORPHA:952
2121	EVC	HP:0003510	Severe short stature	7/7	OMIM:615777
2121	EVC	HP:0003502	Mild short stature	-	OMIM:193530
2121	EVC	HP:0003502	Mild short stature	HP:0040281	ORPHA:952
2121	EVC	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:952
2121	EVC	HP:0002315	Headache	-	OMIM:131300
2121	EVC	HP:0004976	Knee dislocation	6/7	OMIM:615777
2121	EVC	HP:0009803	Short phalanx of finger	-	OMIM:615777
2121	EVC	HP:0200055	Small hand	HP:0040282	ORPHA:952
2121	EVC	HP:0009763	Limb pain	63/92	OMIM:131300
2121	EVC	HP:0003621	Juvenile onset	-	OMIM:131300
2121	EVC	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2121	EVC	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:193530
2121	EVC	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:952
2121	EVC	HP:0004279	Short palm	-	OMIM:193530
2121	EVC	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2121	EVC	HP:0005561	Abnormal bone marrow cell morphology	HP:0040283	ORPHA:289
2121	EVC	HP:6001056	Out-toeing	-	OMIM:131300
2121	EVC	HP:0000651	Diplopia	-	OMIM:131300
2121	EVC	HP:0001956	Truncal obesity	2/7	OMIM:615777
2121	EVC	HP:0000601	Hypotelorism	-	OMIM:193530
2121	EVC	HP:0001903	Anemia	HP:0040283	OMIM:131300
2121	EVC	HP:0010049	Short metacarpal	-	OMIM:615777
2121	EVC	HP:0011362	Abnormal hair quantity	HP:0040283	ORPHA:289
2121	EVC	HP:0000698	Conical tooth	-	OMIM:193530
2121	EVC	HP:0000698	Conical tooth	HP:0040281	ORPHA:952
2121	EVC	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:289
2121	EVC	HP:0000684	Delayed eruption of teeth	-	OMIM:225500
2121	EVC	HP:0000678	Dental crowding	-	OMIM:615777
2121	EVC	HP:0000695	Natal tooth	-	OMIM:225500
2121	EVC	HP:0000691	Microdontia	HP:0040282	ORPHA:289
2121	EVC	HP:0000670	Carious teeth	-	OMIM:131300
2121	EVC	HP:0011304	Broad thumb	2/7	OMIM:615777
2121	EVC	HP:0000668	Hypodontia	-	OMIM:615777
2121	EVC	HP:0000668	Hypodontia	HP:0040282	ORPHA:289
2121	EVC	HP:0000668	Hypodontia	HP:0040281	ORPHA:952
2121	EVC	HP:0000668	Hypodontia	-	OMIM:225500
2121	EVC	HP:0000664	Synophrys	-	OMIM:615777
2121	EVC	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:289
2121	EVC	HP:0004396	Poor appetite	-	OMIM:131300
2121	EVC	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2121	EVC	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2121	EVC	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2121	EVC	HP:0003026	Short long bone	7/7	OMIM:615777
2121	EVC	HP:0003026	Short long bone	-	OMIM:225500
2121	EVC	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2121	EVC	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2121	EVC	HP:0000768	Pectus carinatum	-	OMIM:225500
2121	EVC	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2121	EVC	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2121	EVC	HP:0000750	Delayed speech and language development	-	OMIM:615777
2121	EVC	HP:0011461	Fetal onset	7/7	OMIM:615777
2121	EVC	HP:0000774	Narrow chest	HP:0040281	ORPHA:289
2121	EVC	HP:0000774	Narrow chest	-	OMIM:225500
2121	EVC	HP:0000774	Narrow chest	2/7	OMIM:615777
2121	EVC	HP:0000773	Short ribs	-	OMIM:225500
2121	EVC	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:289
2121	EVC	HP:0000926	Platyspondyly	1/7	OMIM:615777
2121	EVC	HP:0003180	Flat acetabular roof	-	OMIM:615777
2121	EVC	HP:0004482	Relative macrocephaly	-	OMIM:615777
2121	EVC	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2121	EVC	HP:0000888	Horizontal ribs	-	OMIM:225500
2121	EVC	HP:0000823	Delayed puberty	-	OMIM:131300
2121	EVC	HP:0011565	Common atrium	-	OMIM:225500
2121	EVC	HP:0000894	Short clavicles	-	OMIM:615777
2121	EVC	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2121	EVC	HP:0010306	Short thorax	HP:0040281	ORPHA:289
2121	EVC	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2121	EVC	HP:0000968	Ectodermal dysplasia	-	OMIM:225500
2121	EVC	HP:0000286	Epicanthus	1/7	OMIM:615777
2121	EVC	HP:0000280	Coarse facial features	2/7	OMIM:615777
2121	EVC	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:289
2121	EVC	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:289
2121	EVC	HP:0006477	Abnormal alveolar ridge morphology	-	OMIM:225500
2121	EVC	HP:0002827	Hip dislocation	3/7	OMIM:615777
2121	EVC	HP:0005048	Synostosis of carpal bones	HP:0040283	ORPHA:289
2121	EVC	HP:0000252	Microcephaly	-	OMIM:615777
2121	EVC	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:289
2121	EVC	HP:0002857	Genu valgum	-	OMIM:131300
2121	EVC	HP:0002857	Genu valgum	HP:0040281	ORPHA:289
2121	EVC	HP:0002857	Genu valgum	-	OMIM:225500
2121	EVC	HP:0001533	Slender build	-	OMIM:131300
2121	EVC	HP:0002866	Hypoplastic iliac wing	-	OMIM:225500
2121	EVC	HP:0000204	Cleft upper lip	-	OMIM:225500
2121	EVC	HP:0001508	Failure to thrive	HP:0040281	ORPHA:289
2121	EVC	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:289
2121	EVC	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2121	EVC	HP:0007807	Optic nerve compression	-	OMIM:131300
2121	EVC	HP:0011065	Conical incisor	HP:0040282	ORPHA:289
2121	EVC	HP:0012368	Flat face	7/7	OMIM:615777
2121	EVC	HP:0000395	Prominent antihelix	-	OMIM:193530
2121	EVC	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2121	EVC	HP:0001696	Situs inversus totalis	HP:0040282	ORPHA:289
2121	EVC	HP:0000365	Hearing impairment	10/67	OMIM:131300
2121	EVC	HP:0000343	Long philtrum	1/7	OMIM:615777
2121	EVC	HP:0011001	Increased bone mineral density	-	OMIM:131300
2121	EVC	HP:0002983	Micromelia	HP:0040281	ORPHA:289
2121	EVC	HP:0001651	Dextrocardia	HP:0040282	ORPHA:289
2121	EVC	HP:0000311	Round face	2/7	OMIM:615777
2121	EVC	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:289
2121	EVC	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:289
2121	EVC	HP:0002970	Genu varum	-	OMIM:615777
2121	EVC	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:289
2121	EVC	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:289
2121	EVC	HP:0001631	Atrial septal defect	-	OMIM:225500
2121	EVC	HP:0000303	Mandibular prognathia	-	OMIM:131300
2121	EVC	HP:0006695	Atrioventricular canal defect	HP:0040281	ORPHA:289
2121	EVC	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2121	EVC	HP:0000486	Strabismus	HP:0040282	ORPHA:289
2121	EVC	HP:0001792	Small nail	HP:0040281	ORPHA:952
2121	EVC	HP:0001792	Small nail	-	OMIM:193530
2121	EVC	HP:0000470	Short neck	1/7	OMIM:615777
2121	EVC	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2121	EVC	HP:0001763	Pes planus	1/7	OMIM:615777
2121	EVC	HP:0001762	Talipes equinovarus	-	OMIM:225500
2121	EVC	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040282	ORPHA:289
2121	EVC	HP:0001840	Metatarsus adductus	-	OMIM:615777
2121	EVC	HP:0000520	Proptosis	2/4	OMIM:131300
2121	EVC	HP:0000520	Proptosis	7/7	OMIM:615777
2121	EVC	HP:0001829	Foot polydactyly	HP:0040281	ORPHA:289
2121	EVC	HP:0001830	Postaxial foot polydactyly	-	OMIM:193530
2121	EVC	HP:0001830	Postaxial foot polydactyly	-	OMIM:225500
2121	EVC	HP:0001800	Hypoplastic toenails	HP:0040281	ORPHA:289
2121	EVC	HP:0001800	Hypoplastic toenails	HP:0040281	ORPHA:952
2121	EVC	HP:0000592	Blue sclerae	2/7	OMIM:615777
2121	EVC	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2121	EVC	HP:0012514	Lower limb pain	4/4	OMIM:131300
2122	MECOM	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2122	MECOM	HP:0001293	Cranial nerve compression	-	OMIM:131300
2122	MECOM	HP:0001256	Intellectual disability, mild	1/3	OMIM:616738
2122	MECOM	HP:0001252	Hypotonia	2/7	OMIM:615777
2122	MECOM	HP:0001249	Intellectual disability	5/7	OMIM:615777
2122	MECOM	HP:0001263	Global developmental delay	-	OMIM:615777
2122	MECOM	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:71289
2122	MECOM	HP:0002515	Waddling gait	54/102	OMIM:131300
2122	MECOM	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:71289
2122	MECOM	HP:0001382	Joint hypermobility	-	OMIM:615777
2122	MECOM	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2122	MECOM	HP:0000034	Hydrocele testis	1/1	OMIM:616738
2122	MECOM	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2122	MECOM	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2122	MECOM	HP:0001324	Muscle weakness	40/96	OMIM:131300
2122	MECOM	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2122	MECOM	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2122	MECOM	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2122	MECOM	HP:0000006	Autosomal dominant inheritance	-	OMIM:616738
2122	MECOM	HP:0002650	Scoliosis	12/14	OMIM:131300
2122	MECOM	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2122	MECOM	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2122	MECOM	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2122	MECOM	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2122	MECOM	HP:0000175	Cleft palate	1/3	OMIM:616738
2122	MECOM	HP:0000175	Cleft palate	2/7	OMIM:615777
2122	MECOM	HP:0001433	Hepatosplenomegaly	0/1	OMIM:616738
2122	MECOM	HP:0003388	Easy fatigability	36/76	OMIM:131300
2122	MECOM	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2122	MECOM	HP:0010557	Overlapping fingers	1/3	OMIM:616738
2122	MECOM	HP:0004859	Amegakaryocytic thrombocytopenia	HP:0040282	ORPHA:71289
2122	MECOM	HP:0003510	Severe short stature	7/7	OMIM:615777
2122	MECOM	HP:0002315	Headache	-	OMIM:131300
2122	MECOM	HP:0004976	Knee dislocation	6/7	OMIM:615777
2122	MECOM	HP:0009803	Short phalanx of finger	-	OMIM:615777
2122	MECOM	HP:0009763	Limb pain	63/92	OMIM:131300
2122	MECOM	HP:0003621	Juvenile onset	-	OMIM:131300
2122	MECOM	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2122	MECOM	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:71289
2122	MECOM	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2122	MECOM	HP:6001056	Out-toeing	-	OMIM:131300
2122	MECOM	HP:0000651	Diplopia	-	OMIM:131300
2122	MECOM	HP:0001956	Truncal obesity	2/7	OMIM:615777
2122	MECOM	HP:0001903	Anemia	HP:0040283	OMIM:131300
2122	MECOM	HP:0001903	Anemia	2/3	OMIM:616738
2122	MECOM	HP:0001905	Congenital thrombocytopenia	2/3	OMIM:616738
2122	MECOM	HP:0010049	Short metacarpal	-	OMIM:615777
2122	MECOM	HP:0000678	Dental crowding	-	OMIM:615777
2122	MECOM	HP:0000670	Carious teeth	-	OMIM:131300
2122	MECOM	HP:0011304	Broad thumb	2/7	OMIM:615777
2122	MECOM	HP:0000668	Hypodontia	-	OMIM:615777
2122	MECOM	HP:0000664	Synophrys	-	OMIM:615777
2122	MECOM	HP:0004396	Poor appetite	-	OMIM:131300
2122	MECOM	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2122	MECOM	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2122	MECOM	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2122	MECOM	HP:0003026	Short long bone	7/7	OMIM:615777
2122	MECOM	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2122	MECOM	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2122	MECOM	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2122	MECOM	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2122	MECOM	HP:0000750	Delayed speech and language development	-	OMIM:615777
2122	MECOM	HP:0011461	Fetal onset	7/7	OMIM:615777
2122	MECOM	HP:0000774	Narrow chest	2/7	OMIM:615777
2122	MECOM	HP:0000926	Platyspondyly	1/7	OMIM:615777
2122	MECOM	HP:0003180	Flat acetabular roof	-	OMIM:615777
2122	MECOM	HP:0004482	Relative macrocephaly	-	OMIM:615777
2122	MECOM	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2122	MECOM	HP:0000823	Delayed puberty	-	OMIM:131300
2122	MECOM	HP:0009295	Short middle phalanx of the 4th finger	1/3	OMIM:616738
2122	MECOM	HP:0000894	Short clavicles	-	OMIM:615777
2122	MECOM	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2122	MECOM	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2122	MECOM	HP:0000286	Epicanthus	1/7	OMIM:615777
2122	MECOM	HP:0000280	Coarse facial features	2/7	OMIM:615777
2122	MECOM	HP:0002827	Hip dislocation	3/7	OMIM:615777
2122	MECOM	HP:0006394	Limited pronation/supination of forearm	-	OMIM:616738
2122	MECOM	HP:0000252	Microcephaly	-	OMIM:615777
2122	MECOM	HP:0002857	Genu valgum	-	OMIM:131300
2122	MECOM	HP:0001533	Slender build	-	OMIM:131300
2122	MECOM	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2122	MECOM	HP:0007807	Optic nerve compression	-	OMIM:131300
2122	MECOM	HP:0012368	Flat face	7/7	OMIM:615777
2122	MECOM	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2122	MECOM	HP:0000365	Hearing impairment	10/67	OMIM:131300
2122	MECOM	HP:0000343	Long philtrum	1/7	OMIM:615777
2122	MECOM	HP:0011001	Increased bone mineral density	-	OMIM:131300
2122	MECOM	HP:0000311	Round face	2/7	OMIM:615777
2122	MECOM	HP:0002974	Radioulnar synostosis	HP:0040281	ORPHA:71289
2122	MECOM	HP:0002974	Radioulnar synostosis	3/3	OMIM:616738
2122	MECOM	HP:0002970	Genu varum	-	OMIM:615777
2122	MECOM	HP:0000303	Mandibular prognathia	-	OMIM:131300
2122	MECOM	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:71289
2122	MECOM	HP:0000407	Sensorineural hearing impairment	2/3	OMIM:616738
2122	MECOM	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2122	MECOM	HP:0001789	Hydrops fetalis	1/3	OMIM:616738
2122	MECOM	HP:0000470	Short neck	1/7	OMIM:615777
2122	MECOM	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2122	MECOM	HP:0001763	Pes planus	1/7	OMIM:615777
2122	MECOM	HP:0001840	Metatarsus adductus	-	OMIM:615777
2122	MECOM	HP:0000520	Proptosis	2/4	OMIM:131300
2122	MECOM	HP:0000520	Proptosis	7/7	OMIM:615777
2122	MECOM	HP:0000592	Blue sclerae	2/7	OMIM:615777
2122	MECOM	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2122	MECOM	HP:0012514	Lower limb pain	4/4	OMIM:131300
2122	MECOM	HP:0001873	Thrombocytopenia	-	OMIM:616738
2122	MECOM	HP:0001875	Decreased total neutrophil count	1/3	OMIM:616738
2130	EWSR1	HP:0002585	Abnormal peritoneum morphology	HP:0040281	ORPHA:83469
2130	EWSR1	HP:0002595	Ileus	HP:0040282	ORPHA:83469
2130	EWSR1	HP:0001442	Typified by somatic mosaicism	-	OMIM:612219
2130	EWSR1	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:83469
2130	EWSR1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:83469
2130	EWSR1	HP:0002027	Abdominal pain	HP:0040281	ORPHA:83469
2130	EWSR1	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:83469
2130	EWSR1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:83469
2130	EWSR1	HP:0100721	Mediastinal lymphadenopathy	HP:0040282	ORPHA:83469
2130	EWSR1	HP:0100615	Ovarian neoplasm	HP:0040283	ORPHA:83469
2130	EWSR1	HP:0010788	Testicular neoplasm	HP:0040283	ORPHA:83469
2130	EWSR1	HP:0001903	Anemia	HP:0040283	ORPHA:83469
2130	EWSR1	HP:0004326	Cachexia	HP:0040283	ORPHA:83469
2130	EWSR1	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:83469
2130	EWSR1	HP:0003270	Abdominal distention	HP:0040281	ORPHA:83469
2130	EWSR1	HP:0100242	Sarcoma	HP:0040281	ORPHA:83469
2130	EWSR1	HP:0012254	Ewing sarcoma	-	OMIM:612219
2130	EWSR1	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:83469
2130	EWSR1	HP:0001541	Ascites	HP:0040283	ORPHA:83469
2130	EWSR1	HP:0001824	Weight loss	HP:0040282	ORPHA:83469
2131	EXT1	HP:0001156	Brachydactyly	HP:0040283	ORPHA:502
2131	EXT1	HP:0009928	Thick nasal alae	HP:0040283	ORPHA:502
2131	EXT1	HP:0001191	Abnormal carpal morphology	HP:0040284	ORPHA:321
2131	EXT1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2131	EXT1	HP:0001293	Cranial nerve compression	-	OMIM:131300
2131	EXT1	HP:0025232	Bursitis	HP:0040283	ORPHA:321
2131	EXT1	HP:0001252	Hypotonia	HP:0040283	ORPHA:502
2131	EXT1	HP:0001252	Hypotonia	2/7	OMIM:615777
2131	EXT1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:502
2131	EXT1	HP:0001249	Intellectual disability	5/7	OMIM:615777
2131	EXT1	HP:0001263	Global developmental delay	-	OMIM:615777
2131	EXT1	HP:0002515	Waddling gait	54/102	OMIM:131300
2131	EXT1	HP:0008800	Limited hip movement	HP:0040283	ORPHA:321
2131	EXT1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:502
2131	EXT1	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:321
2131	EXT1	HP:0001373	Joint dislocation	HP:0040282	ORPHA:502
2131	EXT1	HP:0001369	Arthritis	HP:0040283	ORPHA:321
2131	EXT1	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:502
2131	EXT1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:502
2131	EXT1	HP:0001382	Joint hypermobility	-	OMIM:615777
2131	EXT1	HP:0000016	Urinary retention	HP:0040284	ORPHA:321
2131	EXT1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2131	EXT1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2131	EXT1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2131	EXT1	HP:0001324	Muscle weakness	40/96	OMIM:131300
2131	EXT1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:502
2131	EXT1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2131	EXT1	HP:0002673	Coxa valga	HP:0040283	ORPHA:321
2131	EXT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2131	EXT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:133700
2131	EXT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2131	EXT1	HP:0002653	Bone pain	HP:0040281	ORPHA:502
2131	EXT1	HP:0002650	Scoliosis	12/14	OMIM:131300
2131	EXT1	HP:0003977	Deformed radius	HP:0040283	ORPHA:321
2131	EXT1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2131	EXT1	HP:0003959	Deformed forearm bones	HP:0040282	ORPHA:321
2131	EXT1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2131	EXT1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2131	EXT1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2131	EXT1	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:502
2131	EXT1	HP:0012151	Hemothorax	HP:0040284	ORPHA:321
2131	EXT1	HP:0000175	Cleft palate	2/7	OMIM:615777
2131	EXT1	HP:0000174	Abnormal palate morphology	HP:0040283	ORPHA:502
2131	EXT1	HP:0007598	Bilateral single transverse palmar creases	HP:0040283	ORPHA:502
2131	EXT1	HP:0032510	Tendon pain	HP:0040283	ORPHA:321
2131	EXT1	HP:0002762	Multiple exostoses	38/38	OMIM:133700
2131	EXT1	HP:0002763	Abnormal cartilage morphology	HP:0040282	ORPHA:321
2131	EXT1	HP:0001442	Typified by somatic mosaicism	-	OMIM:215300
2131	EXT1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:502
2131	EXT1	HP:0004684	Talipes valgus	HP:0040284	ORPHA:321
2131	EXT1	HP:0002002	Deep philtrum	HP:0040281	ORPHA:502
2131	EXT1	HP:0003330	Abnormal bone structure	HP:0040282	ORPHA:321
2131	EXT1	HP:0003326	Myalgia	HP:0040283	ORPHA:321
2131	EXT1	HP:0002015	Dysphagia	HP:0040284	ORPHA:321
2131	EXT1	HP:0100555	Asymmetric growth	HP:0040283	ORPHA:321
2131	EXT1	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:321
2131	EXT1	HP:0003396	Syringomyelia	HP:0040284	ORPHA:321
2131	EXT1	HP:0003388	Easy fatigability	36/76	OMIM:131300
2131	EXT1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2131	EXT1	HP:0005922	Abnormal hand morphology	HP:0040283	ORPHA:321
2131	EXT1	HP:0002144	Tethered cord	HP:0040284	ORPHA:321
2131	EXT1	HP:0003474	Somatic sensory dysfunction	HP:0040283	ORPHA:321
2131	EXT1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:502
2131	EXT1	HP:0002107	Pneumothorax	HP:0040284	ORPHA:321
2131	EXT1	HP:0003406	Peripheral nerve compression	HP:0040284	ORPHA:321
2131	EXT1	HP:0003406	Peripheral nerve compression	-	OMIM:133700
2131	EXT1	HP:0002176	Spinal cord compression	HP:0040284	ORPHA:321
2131	EXT1	HP:0010501	Limitation of knee mobility	HP:0040283	ORPHA:321
2131	EXT1	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:502
2131	EXT1	HP:0100777	Exostoses	HP:0040281	ORPHA:502
2131	EXT1	HP:0100749	Chest pain	HP:0040284	ORPHA:321
2131	EXT1	HP:0003510	Severe short stature	7/7	OMIM:615777
2131	EXT1	HP:0002318	Cervical myelopathy	HP:0040284	ORPHA:321
2131	EXT1	HP:0002318	Cervical myelopathy	-	OMIM:133700
2131	EXT1	HP:0002315	Headache	-	OMIM:131300
2131	EXT1	HP:0004976	Knee dislocation	6/7	OMIM:615777
2131	EXT1	HP:0009826	Limb undergrowth	HP:0040283	ORPHA:321
2131	EXT1	HP:0009821	Forearm undergrowth	HP:0040283	ORPHA:321
2131	EXT1	HP:0009803	Short phalanx of finger	-	OMIM:615777
2131	EXT1	HP:0020110	Bone fracture	HP:0040284	ORPHA:321
2131	EXT1	HP:0008443	Neuropathic spinal arthropathy	HP:0040284	ORPHA:321
2131	EXT1	HP:0009763	Limb pain	63/92	OMIM:131300
2131	EXT1	HP:0003621	Juvenile onset	2/2	OMIM:133700
2131	EXT1	HP:0003621	Juvenile onset	-	OMIM:131300
2131	EXT1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2131	EXT1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2131	EXT1	HP:6001056	Out-toeing	-	OMIM:131300
2131	EXT1	HP:0000651	Diplopia	-	OMIM:131300
2131	EXT1	HP:0001956	Truncal obesity	2/7	OMIM:615777
2131	EXT1	HP:0001903	Anemia	HP:0040283	OMIM:131300
2131	EXT1	HP:0010049	Short metacarpal	-	OMIM:133700
2131	EXT1	HP:0010049	Short metacarpal	-	OMIM:615777
2131	EXT1	HP:0010049	Short metacarpal	HP:0040283	ORPHA:321
2131	EXT1	HP:0000678	Dental crowding	-	OMIM:615777
2131	EXT1	HP:0000670	Carious teeth	-	OMIM:131300
2131	EXT1	HP:0011304	Broad thumb	2/7	OMIM:615777
2131	EXT1	HP:0000668	Hypodontia	-	OMIM:615777
2131	EXT1	HP:0000664	Synophrys	-	OMIM:615777
2131	EXT1	HP:0004322	Short stature	HP:0040282	ORPHA:321
2131	EXT1	HP:0004322	Short stature	HP:0040281	ORPHA:502
2131	EXT1	HP:0004322	Short stature	1/27	OMIM:133700
2131	EXT1	HP:0004302	Functional motor deficit	HP:0040282	ORPHA:321
2131	EXT1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:502
2131	EXT1	HP:0003068	Madelung-like forearm deformities	-	OMIM:133700
2131	EXT1	HP:0004396	Poor appetite	-	OMIM:131300
2131	EXT1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2131	EXT1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2131	EXT1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2131	EXT1	HP:0003016	Metaphyseal widening	HP:0040283	ORPHA:321
2131	EXT1	HP:0003026	Short long bone	7/7	OMIM:615777
2131	EXT1	HP:0003026	Short long bone	HP:0040283	ORPHA:321
2131	EXT1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2131	EXT1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2131	EXT1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2131	EXT1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2131	EXT1	HP:0000750	Delayed speech and language development	-	OMIM:615777
2131	EXT1	HP:0011463	Childhood onset	8/8	OMIM:133700
2131	EXT1	HP:0011461	Fetal onset	7/7	OMIM:615777
2131	EXT1	HP:0000774	Narrow chest	2/7	OMIM:615777
2131	EXT1	HP:0009118	Aplasia/Hypoplasia of the mandible	HP:0040282	ORPHA:502
2131	EXT1	HP:0003105	Protuberances at ends of long bones	-	OMIM:133700
2131	EXT1	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040283	ORPHA:502
2131	EXT1	HP:0000918	Scapular exostoses	HP:0040284	ORPHA:321
2131	EXT1	HP:0000918	Scapular exostoses	-	OMIM:133700
2131	EXT1	HP:0000926	Platyspondyly	1/7	OMIM:615777
2131	EXT1	HP:0003180	Flat acetabular roof	-	OMIM:615777
2131	EXT1	HP:0004482	Relative macrocephaly	-	OMIM:615777
2131	EXT1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2131	EXT1	HP:0000823	Delayed puberty	-	OMIM:131300
2131	EXT1	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:321
2131	EXT1	HP:0040069	Abnormal lower limb bone morphology	HP:0040282	ORPHA:321
2131	EXT1	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	HP:0040281	ORPHA:502
2131	EXT1	HP:0000894	Short clavicles	-	OMIM:615777
2131	EXT1	HP:0000896	Rib exostoses	HP:0040284	ORPHA:321
2131	EXT1	HP:0000896	Rib exostoses	-	OMIM:133700
2131	EXT1	HP:0030883	Femoroacetabular impingement	HP:0040283	ORPHA:321
2131	EXT1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2131	EXT1	HP:0003276	Pelvic bone exostoses	-	OMIM:133700
2131	EXT1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2131	EXT1	HP:0040163	Abnormal pelvis bone morphology	HP:0040284	ORPHA:321
2131	EXT1	HP:0000286	Epicanthus	1/7	OMIM:615777
2131	EXT1	HP:0000280	Coarse facial features	2/7	OMIM:615777
2131	EXT1	HP:0002815	Abnormality of the knee	HP:0040282	ORPHA:321
2131	EXT1	HP:0002812	Coxa vara	-	OMIM:133700
2131	EXT1	HP:0002827	Hip dislocation	3/7	OMIM:615777
2131	EXT1	HP:0002823	Abnormal femur morphology	HP:0040282	ORPHA:321
2131	EXT1	HP:0006385	Short lower limbs	HP:0040283	ORPHA:321
2131	EXT1	HP:0005039	Multiple long-bone exostoses	HP:0040281	ORPHA:502
2131	EXT1	HP:0000252	Microcephaly	HP:0040283	ORPHA:502
2131	EXT1	HP:0000252	Microcephaly	-	OMIM:615777
2131	EXT1	HP:0001582	Redundant skin	HP:0040282	ORPHA:502
2131	EXT1	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:502
2131	EXT1	HP:0002857	Genu valgum	-	OMIM:133700
2131	EXT1	HP:0002857	Genu valgum	-	OMIM:131300
2131	EXT1	HP:0002857	Genu valgum	HP:0040283	ORPHA:321
2131	EXT1	HP:0002857	Genu valgum	HP:0040283	ORPHA:502
2131	EXT1	HP:0001533	Slender build	-	OMIM:131300
2131	EXT1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2131	EXT1	HP:0001510	Growth delay	HP:0040283	ORPHA:502
2131	EXT1	HP:0007807	Optic nerve compression	-	OMIM:131300
2131	EXT1	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:502
2131	EXT1	HP:0012368	Flat face	7/7	OMIM:615777
2131	EXT1	HP:0005214	Intestinal obstruction	HP:0040284	ORPHA:321
2131	EXT1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2131	EXT1	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:321
2131	EXT1	HP:0000365	Hearing impairment	10/67	OMIM:131300
2131	EXT1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:502
2131	EXT1	HP:0000343	Long philtrum	HP:0040281	ORPHA:502
2131	EXT1	HP:0000343	Long philtrum	1/7	OMIM:615777
2131	EXT1	HP:0011001	Increased bone mineral density	-	OMIM:131300
2131	EXT1	HP:0000311	Round face	2/7	OMIM:615777
2131	EXT1	HP:0002991	Abnormal fibula morphology	HP:0040283	ORPHA:321
2131	EXT1	HP:0002992	Abnormal tibia morphology	HP:0040283	ORPHA:321
2131	EXT1	HP:0002970	Genu varum	-	OMIM:615777
2131	EXT1	HP:0000303	Mandibular prognathia	-	OMIM:131300
2131	EXT1	HP:0031625	Pseudoaneurysm	HP:0040284	ORPHA:321
2131	EXT1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:502
2131	EXT1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2131	EXT1	HP:0000470	Short neck	1/7	OMIM:615777
2131	EXT1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2131	EXT1	HP:0001763	Pes planus	1/7	OMIM:615777
2131	EXT1	HP:0000414	Bulbous nose	HP:0040281	ORPHA:502
2131	EXT1	HP:0000411	Protruding ear	HP:0040281	ORPHA:502
2131	EXT1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:502
2131	EXT1	HP:0030431	Osteochondroma	HP:0040280	ORPHA:321
2131	EXT1	HP:0006765	Chondrosarcoma	HP:0040284	ORPHA:321
2131	EXT1	HP:0006765	Chondrosarcoma	7/37	OMIM:133700
2131	EXT1	HP:0006765	Chondrosarcoma	-	OMIM:215300
2131	EXT1	HP:0001850	Abnormality of the tarsal bones	HP:0040284	ORPHA:321
2131	EXT1	HP:0001840	Metatarsus adductus	-	OMIM:615777
2131	EXT1	HP:0000520	Proptosis	2/4	OMIM:131300
2131	EXT1	HP:0000520	Proptosis	7/7	OMIM:615777
2131	EXT1	HP:0000592	Blue sclerae	2/7	OMIM:615777
2131	EXT1	HP:0000574	Thick eyebrow	HP:0040282	ORPHA:502
2131	EXT1	HP:0012531	Pain	HP:0040282	ORPHA:321
2131	EXT1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2131	EXT1	HP:0001883	Talipes	HP:0040283	ORPHA:502
2131	EXT1	HP:0012514	Lower limb pain	4/4	OMIM:131300
2132	EXT2	HP:0002465	Poor speech	-	OMIM:616682
2132	EXT2	HP:0001191	Abnormal carpal morphology	HP:0040284	ORPHA:321
2132	EXT2	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:466926
2132	EXT2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2132	EXT2	HP:0001293	Cranial nerve compression	-	OMIM:131300
2132	EXT2	HP:0001270	Motor delay	-	OMIM:616682
2132	EXT2	HP:0025232	Bursitis	HP:0040283	ORPHA:321
2132	EXT2	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:466926
2132	EXT2	HP:0001250	Seizure	HP:0040282	ORPHA:52022
2132	EXT2	HP:0001250	Seizure	HP:0040281	ORPHA:466926
2132	EXT2	HP:0001250	Seizure	4/4	OMIM:616682
2132	EXT2	HP:0002580	Volvulus	1/4	OMIM:616682
2132	EXT2	HP:0001252	Hypotonia	HP:0040282	ORPHA:466926
2132	EXT2	HP:0001252	Hypotonia	4/4	OMIM:616682
2132	EXT2	HP:0001252	Hypotonia	2/7	OMIM:615777
2132	EXT2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:52022
2132	EXT2	HP:0001249	Intellectual disability	5/7	OMIM:615777
2132	EXT2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:52022
2132	EXT2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:466926
2132	EXT2	HP:0001263	Global developmental delay	4/4	OMIM:616682
2132	EXT2	HP:0001263	Global developmental delay	-	OMIM:615777
2132	EXT2	HP:0002566	Intestinal malrotation	2/4	OMIM:616682
2132	EXT2	HP:0002515	Waddling gait	54/102	OMIM:131300
2132	EXT2	HP:0002505	Loss of ambulation	1/4	OMIM:616682
2132	EXT2	HP:0000093	Proteinuria	2/4	OMIM:616682
2132	EXT2	HP:0008800	Limited hip movement	HP:0040283	ORPHA:321
2132	EXT2	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:466926
2132	EXT2	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:321
2132	EXT2	HP:0001369	Arthritis	HP:0040283	ORPHA:321
2132	EXT2	HP:0000054	Micropenis	HP:0040282	ORPHA:52022
2132	EXT2	HP:0001382	Joint hypermobility	-	OMIM:615777
2132	EXT2	HP:0000016	Urinary retention	HP:0040284	ORPHA:321
2132	EXT2	HP:0002697	Parietal foramina	HP:0040282	ORPHA:52022
2132	EXT2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2132	EXT2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:466926
2132	EXT2	HP:0000028	Cryptorchidism	3/3	OMIM:616682
2132	EXT2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2132	EXT2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2132	EXT2	HP:0001324	Muscle weakness	40/96	OMIM:131300
2132	EXT2	HP:0001342	Cerebral hemorrhage	2/4	OMIM:616682
2132	EXT2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2132	EXT2	HP:0002673	Coxa valga	HP:0040283	ORPHA:321
2132	EXT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2132	EXT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616682
2132	EXT2	HP:0002667	Nephroblastoma	HP:0040283	ORPHA:52022
2132	EXT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:133701
2132	EXT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2132	EXT2	HP:0002650	Scoliosis	HP:0040282	ORPHA:466926
2132	EXT2	HP:0002650	Scoliosis	3/3	OMIM:616682
2132	EXT2	HP:0002650	Scoliosis	12/14	OMIM:131300
2132	EXT2	HP:0003977	Deformed radius	HP:0040283	ORPHA:321
2132	EXT2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2132	EXT2	HP:0003959	Deformed forearm bones	HP:0040282	ORPHA:321
2132	EXT2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2132	EXT2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2132	EXT2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2132	EXT2	HP:0012151	Hemothorax	HP:0040284	ORPHA:321
2132	EXT2	HP:0000175	Cleft palate	2/7	OMIM:615777
2132	EXT2	HP:0032510	Tendon pain	HP:0040283	ORPHA:321
2132	EXT2	HP:0002762	Multiple exostoses	17/17	OMIM:133701
2132	EXT2	HP:0002763	Abnormal cartilage morphology	HP:0040282	ORPHA:321
2132	EXT2	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:52022
2132	EXT2	HP:0004684	Talipes valgus	HP:0040284	ORPHA:321
2132	EXT2	HP:0002020	Gastroesophageal reflux	-	OMIM:616682
2132	EXT2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:466926
2132	EXT2	HP:0002018	Nausea	HP:0040282	ORPHA:466926
2132	EXT2	HP:0002019	Constipation	-	OMIM:616682
2132	EXT2	HP:0002019	Constipation	HP:0040282	ORPHA:466926
2132	EXT2	HP:0002036	Hiatus hernia	1/4	OMIM:616682
2132	EXT2	HP:0003330	Abnormal bone structure	HP:0040282	ORPHA:321
2132	EXT2	HP:0003326	Myalgia	HP:0040283	ORPHA:321
2132	EXT2	HP:0002015	Dysphagia	HP:0040284	ORPHA:321
2132	EXT2	HP:0100555	Asymmetric growth	HP:0040283	ORPHA:321
2132	EXT2	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:321
2132	EXT2	HP:0003396	Syringomyelia	HP:0040284	ORPHA:321
2132	EXT2	HP:0003388	Easy fatigability	36/76	OMIM:131300
2132	EXT2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2132	EXT2	HP:0005922	Abnormal hand morphology	HP:0040283	ORPHA:321
2132	EXT2	HP:0002144	Tethered cord	HP:0040284	ORPHA:321
2132	EXT2	HP:0003474	Somatic sensory dysfunction	HP:0040283	ORPHA:321
2132	EXT2	HP:0002136	Broad-based gait	HP:0040282	ORPHA:466926
2132	EXT2	HP:0002107	Pneumothorax	HP:0040284	ORPHA:321
2132	EXT2	HP:0003406	Peripheral nerve compression	HP:0040284	ORPHA:321
2132	EXT2	HP:0003406	Peripheral nerve compression	-	OMIM:133701
2132	EXT2	HP:0002164	Nail dysplasia	-	OMIM:616682
2132	EXT2	HP:0002176	Spinal cord compression	HP:0040284	ORPHA:321
2132	EXT2	HP:0010535	Sleep apnea	1/4	OMIM:616682
2132	EXT2	HP:0010501	Limitation of knee mobility	HP:0040283	ORPHA:321
2132	EXT2	HP:0003593	Infantile onset	11/14	OMIM:616682
2132	EXT2	HP:0003593	Infantile onset	1/9	OMIM:133701
2132	EXT2	HP:0003577	Congenital onset	2/4	OMIM:616682
2132	EXT2	HP:0100777	Exostoses	HP:0040281	ORPHA:52022
2132	EXT2	HP:0100777	Exostoses	HP:0040283	ORPHA:466926
2132	EXT2	HP:0100749	Chest pain	HP:0040284	ORPHA:321
2132	EXT2	HP:0011968	Feeding difficulties	-	OMIM:616682
2132	EXT2	HP:0003510	Severe short stature	7/7	OMIM:615777
2132	EXT2	HP:0002342	Intellectual disability, moderate	4/4	OMIM:616682
2132	EXT2	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:466926
2132	EXT2	HP:0002317	Unsteady gait	1/3	OMIM:616682
2132	EXT2	HP:0002318	Cervical myelopathy	HP:0040284	ORPHA:321
2132	EXT2	HP:0002318	Cervical myelopathy	-	OMIM:133701
2132	EXT2	HP:0002315	Headache	-	OMIM:131300
2132	EXT2	HP:0004976	Knee dislocation	6/7	OMIM:615777
2132	EXT2	HP:0009826	Limb undergrowth	HP:0040283	ORPHA:321
2132	EXT2	HP:0009821	Forearm undergrowth	HP:0040283	ORPHA:321
2132	EXT2	HP:0009803	Short phalanx of finger	-	OMIM:615777
2132	EXT2	HP:0020110	Bone fracture	HP:0040284	ORPHA:321
2132	EXT2	HP:0008443	Neuropathic spinal arthropathy	HP:0040284	ORPHA:321
2132	EXT2	HP:0009763	Limb pain	63/92	OMIM:131300
2132	EXT2	HP:0003621	Juvenile onset	3/9	OMIM:133701
2132	EXT2	HP:0003621	Juvenile onset	-	OMIM:131300
2132	EXT2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2132	EXT2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:616682
2132	EXT2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2132	EXT2	HP:0000639	Nystagmus	HP:0040282	ORPHA:52022
2132	EXT2	HP:6001056	Out-toeing	-	OMIM:131300
2132	EXT2	HP:0000651	Diplopia	-	OMIM:131300
2132	EXT2	HP:0001956	Truncal obesity	2/7	OMIM:615777
2132	EXT2	HP:0001903	Anemia	HP:0040283	ORPHA:52022
2132	EXT2	HP:0001903	Anemia	HP:0040283	OMIM:131300
2132	EXT2	HP:0010049	Short metacarpal	-	OMIM:133701
2132	EXT2	HP:0010049	Short metacarpal	-	OMIM:615777
2132	EXT2	HP:0010049	Short metacarpal	HP:0040283	ORPHA:321
2132	EXT2	HP:0000678	Dental crowding	-	OMIM:615777
2132	EXT2	HP:0000670	Carious teeth	-	OMIM:131300
2132	EXT2	HP:0011304	Broad thumb	2/7	OMIM:615777
2132	EXT2	HP:0000668	Hypodontia	-	OMIM:615777
2132	EXT2	HP:0000664	Synophrys	-	OMIM:615777
2132	EXT2	HP:0004322	Short stature	HP:0040282	ORPHA:321
2132	EXT2	HP:0004322	Short stature	0/10	OMIM:133701
2132	EXT2	HP:0004331	Decreased skull ossification	HP:0040281	ORPHA:52022
2132	EXT2	HP:0004302	Functional motor deficit	HP:0040282	ORPHA:321
2132	EXT2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:466926
2132	EXT2	HP:0003068	Madelung-like forearm deformities	-	OMIM:133701
2132	EXT2	HP:0004396	Poor appetite	-	OMIM:131300
2132	EXT2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2132	EXT2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2132	EXT2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2132	EXT2	HP:0003016	Metaphyseal widening	HP:0040283	ORPHA:321
2132	EXT2	HP:0003026	Short long bone	7/7	OMIM:615777
2132	EXT2	HP:0003026	Short long bone	HP:0040283	ORPHA:321
2132	EXT2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2132	EXT2	HP:0004349	Reduced bone mineral density	1/4	OMIM:616682
2132	EXT2	HP:0004349	Reduced bone mineral density	HP:0040281	ORPHA:466926
2132	EXT2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2132	EXT2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2132	EXT2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2132	EXT2	HP:0000733	Motor stereotypy	-	OMIM:616682
2132	EXT2	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:466926
2132	EXT2	HP:0000750	Delayed speech and language development	-	OMIM:615777
2132	EXT2	HP:0000717	Autism	HP:0040282	ORPHA:466926
2132	EXT2	HP:0000729	Autistic behavior	-	OMIM:616682
2132	EXT2	HP:0011463	Childhood onset	1/4	OMIM:616682
2132	EXT2	HP:0011463	Childhood onset	5/9	OMIM:133701
2132	EXT2	HP:0011461	Fetal onset	7/7	OMIM:615777
2132	EXT2	HP:0000774	Narrow chest	2/7	OMIM:615777
2132	EXT2	HP:0003105	Protuberances at ends of long bones	-	OMIM:133701
2132	EXT2	HP:0004425	Flat forehead	HP:0040283	ORPHA:466926
2132	EXT2	HP:0000918	Scapular exostoses	HP:0040284	ORPHA:321
2132	EXT2	HP:0000918	Scapular exostoses	-	OMIM:133701
2132	EXT2	HP:0000926	Platyspondyly	1/7	OMIM:615777
2132	EXT2	HP:0003180	Flat acetabular roof	-	OMIM:615777
2132	EXT2	HP:0004482	Relative macrocephaly	-	OMIM:615777
2132	EXT2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2132	EXT2	HP:0000826	Precocious puberty	1/4	OMIM:616682
2132	EXT2	HP:0000822	Hypertension	HP:0040283	ORPHA:52022
2132	EXT2	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:52022
2132	EXT2	HP:0000823	Delayed puberty	-	OMIM:131300
2132	EXT2	HP:0000823	Delayed puberty	HP:0040283	ORPHA:52022
2132	EXT2	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:321
2132	EXT2	HP:0040069	Abnormal lower limb bone morphology	HP:0040282	ORPHA:321
2132	EXT2	HP:0000894	Short clavicles	-	OMIM:615777
2132	EXT2	HP:0000896	Rib exostoses	HP:0040284	ORPHA:321
2132	EXT2	HP:0000896	Rib exostoses	-	OMIM:133701
2132	EXT2	HP:0030883	Femoroacetabular impingement	HP:0040283	ORPHA:321
2132	EXT2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2132	EXT2	HP:0003276	Pelvic bone exostoses	-	OMIM:133701
2132	EXT2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2132	EXT2	HP:0000951	Abnormality of the skin	HP:0040282	ORPHA:466926
2132	EXT2	HP:0040163	Abnormal pelvis bone morphology	HP:0040284	ORPHA:321
2132	EXT2	HP:0008070	Sparse hair	-	OMIM:616682
2132	EXT2	HP:0040183	Encopresis	1/4	OMIM:616682
2132	EXT2	HP:0000286	Epicanthus	HP:0040281	ORPHA:52022
2132	EXT2	HP:0000286	Epicanthus	1/7	OMIM:615777
2132	EXT2	HP:0000280	Coarse facial features	-	OMIM:616682
2132	EXT2	HP:0000280	Coarse facial features	2/7	OMIM:615777
2132	EXT2	HP:0000256	Macrocephaly	4/4	OMIM:616682
2132	EXT2	HP:0000256	Macrocephaly	HP:0040282	ORPHA:466926
2132	EXT2	HP:0002815	Abnormality of the knee	HP:0040282	ORPHA:321
2132	EXT2	HP:0002812	Coxa vara	-	OMIM:133701
2132	EXT2	HP:0002827	Hip dislocation	3/7	OMIM:615777
2132	EXT2	HP:0002823	Abnormal femur morphology	HP:0040282	ORPHA:321
2132	EXT2	HP:0006385	Short lower limbs	HP:0040283	ORPHA:321
2132	EXT2	HP:0000252	Microcephaly	HP:0040283	ORPHA:466926
2132	EXT2	HP:0000252	Microcephaly	-	OMIM:616682
2132	EXT2	HP:0000252	Microcephaly	-	OMIM:615777
2132	EXT2	HP:0000248	Brachycephaly	HP:0040281	ORPHA:52022
2132	EXT2	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:466926
2132	EXT2	HP:0002857	Genu valgum	-	OMIM:133701
2132	EXT2	HP:0002857	Genu valgum	-	OMIM:131300
2132	EXT2	HP:0002857	Genu valgum	HP:0040283	ORPHA:321
2132	EXT2	HP:0001533	Slender build	-	OMIM:131300
2132	EXT2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2132	EXT2	HP:0007807	Optic nerve compression	-	OMIM:131300
2132	EXT2	HP:0000384	Preauricular skin tag	-	OMIM:616682
2132	EXT2	HP:0012368	Flat face	7/7	OMIM:615777
2132	EXT2	HP:0005214	Intestinal obstruction	HP:0040284	ORPHA:321
2132	EXT2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2132	EXT2	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:321
2132	EXT2	HP:0000365	Hearing impairment	10/67	OMIM:131300
2132	EXT2	HP:0000356	Abnormality of the outer ear	HP:0040282	ORPHA:466926
2132	EXT2	HP:0000343	Long philtrum	HP:0040282	ORPHA:466926
2132	EXT2	HP:0000343	Long philtrum	1/7	OMIM:615777
2132	EXT2	HP:0011001	Increased bone mineral density	-	OMIM:131300
2132	EXT2	HP:0000348	High forehead	HP:0040283	ORPHA:466926
2132	EXT2	HP:0000347	Micrognathia	HP:0040281	ORPHA:52022
2132	EXT2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:466926
2132	EXT2	HP:0000316	Hypertelorism	1/2	OMIM:616682
2132	EXT2	HP:0001643	Patent ductus arteriosus	HP:0040284	OMIM:616682
2132	EXT2	HP:0000311	Round face	2/7	OMIM:615777
2132	EXT2	HP:0002991	Abnormal fibula morphology	HP:0040283	ORPHA:321
2132	EXT2	HP:0002992	Abnormal tibia morphology	HP:0040283	ORPHA:321
2132	EXT2	HP:0000322	Short philtrum	HP:0040282	ORPHA:52022
2132	EXT2	HP:0001629	Ventricular septal defect	2/3	OMIM:616682
2132	EXT2	HP:0002970	Genu varum	-	OMIM:615777
2132	EXT2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:466926
2132	EXT2	HP:0000303	Mandibular prognathia	-	OMIM:131300
2132	EXT2	HP:0031625	Pseudoaneurysm	HP:0040284	ORPHA:321
2132	EXT2	HP:0005326	Hypoplastic philtrum	-	OMIM:616682
2132	EXT2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2132	EXT2	HP:0000486	Strabismus	2/4	OMIM:616682
2132	EXT2	HP:0000486	Strabismus	HP:0040282	ORPHA:52022
2132	EXT2	HP:0000455	Broad nasal tip	HP:0040281	ORPHA:52022
2132	EXT2	HP:0000470	Short neck	1/7	OMIM:615777
2132	EXT2	HP:0000437	Depressed nasal tip	HP:0040281	ORPHA:52022
2132	EXT2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2132	EXT2	HP:0001763	Pes planus	-	OMIM:616682
2132	EXT2	HP:0001763	Pes planus	1/7	OMIM:615777
2132	EXT2	HP:0000414	Bulbous nose	-	OMIM:616682
2132	EXT2	HP:0000414	Bulbous nose	HP:0040282	ORPHA:466926
2132	EXT2	HP:0000430	Underdeveloped nasal alae	HP:0040281	ORPHA:52022
2132	EXT2	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:52022
2132	EXT2	HP:0030431	Osteochondroma	HP:0040280	ORPHA:321
2132	EXT2	HP:0006765	Chondrosarcoma	HP:0040284	ORPHA:321
2132	EXT2	HP:0006765	Chondrosarcoma	1/18	OMIM:133701
2132	EXT2	HP:0001850	Abnormality of the tarsal bones	HP:0040284	ORPHA:321
2132	EXT2	HP:0001845	Overlapping toe	2/4	OMIM:616682
2132	EXT2	HP:0001845	Overlapping toe	HP:0040282	ORPHA:466926
2132	EXT2	HP:0001840	Metatarsus adductus	-	OMIM:615777
2132	EXT2	HP:0000520	Proptosis	2/4	OMIM:131300
2132	EXT2	HP:0000520	Proptosis	7/7	OMIM:615777
2132	EXT2	HP:0000592	Blue sclerae	2/7	OMIM:615777
2132	EXT2	HP:0011220	Prominent forehead	HP:0040283	ORPHA:466926
2132	EXT2	HP:0012531	Pain	HP:0040282	ORPHA:321
2132	EXT2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2132	EXT2	HP:0012514	Lower limb pain	4/4	OMIM:131300
2137	EXTL3	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0001156	Brachydactyly	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0001156	Brachydactyly	9/13	OMIM:617425
2137	EXTL3	HP:0025116	Fetal distress	2/3	OMIM:617425
2137	EXTL3	HP:0020206	Simple ear	1/3	OMIM:617425
2137	EXTL3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2137	EXTL3	HP:0032218	Decreased proportion of CD4-positive T cells	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0001293	Cranial nerve compression	-	OMIM:131300
2137	EXTL3	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0100806	Sepsis	1/1	OMIM:617425
2137	EXTL3	HP:0001276	Hypertonia	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0001270	Motor delay	-	OMIM:617425
2137	EXTL3	HP:0001270	Motor delay	HP:0040281	ORPHA:508533
2137	EXTL3	HP:0001250	Seizure	4/6	OMIM:617425
2137	EXTL3	HP:0001250	Seizure	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0001252	Hypotonia	3/3	OMIM:617425
2137	EXTL3	HP:0001252	Hypotonia	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0001252	Hypotonia	2/7	OMIM:615777
2137	EXTL3	HP:0001249	Intellectual disability	3/6	OMIM:617425
2137	EXTL3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0001249	Intellectual disability	5/7	OMIM:615777
2137	EXTL3	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0001263	Global developmental delay	6/6	OMIM:617425
2137	EXTL3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:508533
2137	EXTL3	HP:0001263	Global developmental delay	-	OMIM:615777
2137	EXTL3	HP:0001230	Broad metacarpals	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0008763	No social interaction	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0100865	Broad ischia	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0100865	Broad ischia	1/1	OMIM:617425
2137	EXTL3	HP:0007340	Lower limb muscle weakness	1/1	OMIM:617425
2137	EXTL3	HP:0002540	Inability to walk	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0001216	Delayed ossification of carpal bones	5/9	OMIM:617425
2137	EXTL3	HP:0002515	Waddling gait	54/102	OMIM:131300
2137	EXTL3	HP:0008807	Acetabular dysplasia	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0025336	Delayed ability to sit	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0001385	Hip dysplasia	1/3	OMIM:617425
2137	EXTL3	HP:0001382	Joint hypermobility	-	OMIM:615777
2137	EXTL3	HP:0002676	Cloverleaf skull	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0002676	Cloverleaf skull	1/3	OMIM:617425
2137	EXTL3	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0001347	Hyperreflexia	1/1	OMIM:617425
2137	EXTL3	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0001363	Craniosynostosis	1/3	OMIM:617425
2137	EXTL3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2137	EXTL3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2137	EXTL3	HP:0008873	Disproportionate short-limb short stature	4/5	OMIM:617425
2137	EXTL3	HP:0001328	Specific learning disability	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2137	EXTL3	HP:0002656	Epiphyseal dysplasia	-	OMIM:617425
2137	EXTL3	HP:0001324	Muscle weakness	40/96	OMIM:131300
2137	EXTL3	HP:0001344	Absent speech	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0002673	Coxa valga	3/3	OMIM:617425
2137	EXTL3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2137	EXTL3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2137	EXTL3	HP:0000007	Autosomal recessive inheritance	20/20	OMIM:617425
2137	EXTL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2137	EXTL3	HP:0002650	Scoliosis	12/14	OMIM:131300
2137	EXTL3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2137	EXTL3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2137	EXTL3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2137	EXTL3	HP:0000194	Open mouth	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2137	EXTL3	HP:0000160	Narrow mouth	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0000175	Cleft palate	2/7	OMIM:615777
2137	EXTL3	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0008936	Axial hypotonia	3/9	OMIM:617425
2137	EXTL3	HP:0001407	Hepatic cysts	6/14	OMIM:617425
2137	EXTL3	HP:0002751	Kyphoscoliosis	1/9	OMIM:617425
2137	EXTL3	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0002719	Recurrent infections	4/12	OMIM:617425
2137	EXTL3	HP:0002023	Anal atresia	3/12	OMIM:617425
2137	EXTL3	HP:0002007	Frontal bossing	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0002007	Frontal bossing	2/2	OMIM:617425
2137	EXTL3	HP:0003311	Hypoplasia of the odontoid process	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0003319	Abnormality of the cervical spine	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0002063	Rigidity	1/1	OMIM:617425
2137	EXTL3	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0003375	Narrow greater sciatic notch	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0003375	Narrow greater sciatic notch	-	OMIM:617425
2137	EXTL3	HP:0003388	Easy fatigability	36/76	OMIM:131300
2137	EXTL3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2137	EXTL3	HP:0002155	Hypertriglyceridemia	1/3	OMIM:617425
2137	EXTL3	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0010605	Chalazion	1/3	OMIM:617425
2137	EXTL3	HP:0002197	Generalized-onset seizure	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0002197	Generalized-onset seizure	1/3	OMIM:617425
2137	EXTL3	HP:0002169	Clonus	1/3	OMIM:617425
2137	EXTL3	HP:0003498	Disproportionate short stature	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0003498	Disproportionate short stature	6/9	OMIM:617425
2137	EXTL3	HP:0002179	Opisthotonus	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0002179	Opisthotonus	1/3	OMIM:617425
2137	EXTL3	HP:0002176	Spinal cord compression	4/4	OMIM:617425
2137	EXTL3	HP:0003593	Infantile onset	4/11	OMIM:617425
2137	EXTL3	HP:0003577	Congenital onset	14/15	OMIM:617425
2137	EXTL3	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0004894	Laryngotracheal stenosis	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0004894	Laryngotracheal stenosis	1/3	OMIM:617425
2137	EXTL3	HP:0032061	Severely increased total eosinophil count	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0003510	Severe short stature	7/7	OMIM:615777
2137	EXTL3	HP:0002341	Cervical cord compression	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0001019	Erythroderma	HP:0040283	OMIM:617425
2137	EXTL3	HP:0002315	Headache	-	OMIM:131300
2137	EXTL3	HP:0004976	Knee dislocation	6/7	OMIM:615777
2137	EXTL3	HP:0009826	Limb undergrowth	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0009826	Limb undergrowth	6/10	OMIM:617425
2137	EXTL3	HP:0009803	Short phalanx of finger	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0009803	Short phalanx of finger	-	OMIM:615777
2137	EXTL3	HP:0008462	Cervical instability	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0008462	Cervical instability	HP:0040283	OMIM:617425
2137	EXTL3	HP:0008445	Cervical spinal canal stenosis	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0008445	Cervical spinal canal stenosis	5/5	OMIM:617425
2137	EXTL3	HP:0009763	Limb pain	63/92	OMIM:131300
2137	EXTL3	HP:0009768	Broad phalanges of the hand	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0003623	Neonatal onset	-	OMIM:617425
2137	EXTL3	HP:0002307	Drooling	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0003621	Juvenile onset	3/9	OMIM:617425
2137	EXTL3	HP:0003621	Juvenile onset	-	OMIM:131300
2137	EXTL3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2137	EXTL3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2137	EXTL3	HP:0005562	Multiple renal cysts	1/2	OMIM:617425
2137	EXTL3	HP:0000639	Nystagmus	1/3	OMIM:617425
2137	EXTL3	HP:0000639	Nystagmus	HP:0040283	ORPHA:508533
2137	EXTL3	HP:6001056	Out-toeing	-	OMIM:131300
2137	EXTL3	HP:0000651	Diplopia	-	OMIM:131300
2137	EXTL3	HP:0001956	Truncal obesity	2/7	OMIM:615777
2137	EXTL3	HP:0001903	Anemia	HP:0040283	OMIM:131300
2137	EXTL3	HP:0010049	Short metacarpal	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0010049	Short metacarpal	-	OMIM:615777
2137	EXTL3	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0011344	Severe global developmental delay	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0000678	Dental crowding	-	OMIM:615777
2137	EXTL3	HP:0000670	Carious teeth	-	OMIM:131300
2137	EXTL3	HP:0011304	Broad thumb	2/7	OMIM:615777
2137	EXTL3	HP:0000668	Hypodontia	-	OMIM:615777
2137	EXTL3	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0000664	Synophrys	-	OMIM:615777
2137	EXTL3	HP:0004315	Decreased circulating IgG concentration	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0004315	Decreased circulating IgG concentration	1/1	OMIM:617425
2137	EXTL3	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:617425
2137	EXTL3	HP:0005619	Thoracolumbar kyphosis	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0005619	Thoracolumbar kyphosis	5/11	OMIM:617425
2137	EXTL3	HP:0003083	Dislocated radial head	4/9	OMIM:617425
2137	EXTL3	HP:0003051	Enlarged metaphyses	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0004396	Poor appetite	-	OMIM:131300
2137	EXTL3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2137	EXTL3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2137	EXTL3	HP:0003016	Metaphyseal widening	1/1	OMIM:617425
2137	EXTL3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2137	EXTL3	HP:0003026	Short long bone	7/7	OMIM:615777
2137	EXTL3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2137	EXTL3	HP:0000767	Pectus excavatum	3/12	OMIM:617425
2137	EXTL3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2137	EXTL3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2137	EXTL3	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2137	EXTL3	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0000750	Delayed speech and language development	-	OMIM:615777
2137	EXTL3	HP:0011463	Childhood onset	1/9	OMIM:617425
2137	EXTL3	HP:0011462	Young adult onset	2/9	OMIM:617425
2137	EXTL3	HP:0011461	Fetal onset	7/7	OMIM:615777
2137	EXTL3	HP:0000774	Narrow chest	2/7	OMIM:615777
2137	EXTL3	HP:0004430	Severe combined immunodeficiency	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0004430	Severe combined immunodeficiency	7/12	OMIM:617425
2137	EXTL3	HP:0030799	Scaphocephaly	1/3	OMIM:617425
2137	EXTL3	HP:0003196	Short nose	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0003196	Short nose	1/1	OMIM:617425
2137	EXTL3	HP:0000924	Abnormality of the skeletal system	HP:0040281	ORPHA:508533
2137	EXTL3	HP:0000926	Platyspondyly	11/11	OMIM:617425
2137	EXTL3	HP:0000926	Platyspondyly	1/7	OMIM:615777
2137	EXTL3	HP:0003189	Long nose	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0003180	Flat acetabular roof	-	OMIM:615777
2137	EXTL3	HP:0004482	Relative macrocephaly	-	OMIM:615777
2137	EXTL3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2137	EXTL3	HP:0003090	Hypoplasia of the capital femoral epiphysis	5/5	OMIM:617425
2137	EXTL3	HP:0000823	Delayed puberty	-	OMIM:131300
2137	EXTL3	HP:0000894	Short clavicles	-	OMIM:615777
2137	EXTL3	HP:0004566	Pear-shaped vertebrae	1/3	OMIM:617425
2137	EXTL3	HP:0004565	Severe platyspondyly	HP:0040281	ORPHA:508533
2137	EXTL3	HP:0003212	Increased circulating IgE concentration	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2137	EXTL3	HP:0045060	Aplasia/hypoplasia involving bones of the extremities	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0100255	Metaphyseal dysplasia	2/9	OMIM:617425
2137	EXTL3	HP:0000954	Single transverse palmar crease	5/7	OMIM:617425
2137	EXTL3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2137	EXTL3	HP:0000960	Sacral dimple	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0000960	Sacral dimple	1/1	OMIM:617425
2137	EXTL3	HP:0034374	Trident acetabulum	3/3	OMIM:617425
2137	EXTL3	HP:0000286	Epicanthus	1/7	OMIM:615777
2137	EXTL3	HP:0000280	Coarse facial features	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0000280	Coarse facial features	6/7	OMIM:617425
2137	EXTL3	HP:0000280	Coarse facial features	2/7	OMIM:615777
2137	EXTL3	HP:0000293	Full cheeks	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0000293	Full cheeks	1/7	OMIM:617425
2137	EXTL3	HP:0000276	Long face	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0002812	Coxa vara	1/3	OMIM:617425
2137	EXTL3	HP:0002813	Abnormal limb bone morphology	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0002827	Hip dislocation	3/7	OMIM:615777
2137	EXTL3	HP:0002808	Kyphosis	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0000253	Progressive microcephaly	1/9	OMIM:617425
2137	EXTL3	HP:0000252	Microcephaly	3/4	OMIM:617425
2137	EXTL3	HP:0000252	Microcephaly	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0000252	Microcephaly	-	OMIM:615777
2137	EXTL3	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0001561	Polyhydramnios	1/1	OMIM:617425
2137	EXTL3	HP:0002857	Genu valgum	-	OMIM:131300
2137	EXTL3	HP:0001522	Death in infancy	3/9	OMIM:617425
2137	EXTL3	HP:0002867	Abnormal ilium morphology	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0001533	Slender build	-	OMIM:131300
2137	EXTL3	HP:0001508	Failure to thrive	2/3	OMIM:617425
2137	EXTL3	HP:0002850	Decreased circulating total IgM	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0002850	Decreased circulating total IgM	1/1	OMIM:617425
2137	EXTL3	HP:0031381	Decreased mitogen-induced T-cell proliferation	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2137	EXTL3	HP:0007807	Optic nerve compression	-	OMIM:131300
2137	EXTL3	HP:0012368	Flat face	7/7	OMIM:615777
2137	EXTL3	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0006532	Recurrent pneumonia	1/2	OMIM:617425
2137	EXTL3	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0002938	Lumbar hyperlordosis	1/3	OMIM:617425
2137	EXTL3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2137	EXTL3	HP:0002943	Thoracic scoliosis	1/3	OMIM:617425
2137	EXTL3	HP:0000365	Hearing impairment	10/67	OMIM:131300
2137	EXTL3	HP:0000343	Long philtrum	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0000343	Long philtrum	1/7	OMIM:615777
2137	EXTL3	HP:0011001	Increased bone mineral density	-	OMIM:131300
2137	EXTL3	HP:0002996	Limited elbow movement	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0000347	Micrognathia	4/5	OMIM:617425
2137	EXTL3	HP:0000347	Micrognathia	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0000316	Hypertelorism	1/7	OMIM:617425
2137	EXTL3	HP:0000311	Round face	2/7	OMIM:615777
2137	EXTL3	HP:0000331	Short chin	1/3	OMIM:617425
2137	EXTL3	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0002970	Genu varum	-	OMIM:615777
2137	EXTL3	HP:0000303	Mandibular prognathia	-	OMIM:131300
2137	EXTL3	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0006610	Wide intermamillary distance	1/3	OMIM:617425
2137	EXTL3	HP:0011166	Focal myoclonic seizure	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0000498	Blepharitis	1/3	OMIM:617425
2137	EXTL3	HP:0030320	Increased intervertebral space	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0030320	Increased intervertebral space	3/3	OMIM:617425
2137	EXTL3	HP:0005352	Severe T-cell immunodeficiency	2/12	OMIM:617425
2137	EXTL3	HP:0005306	Capillary hemangioma	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0005280	Depressed nasal bridge	11/12	OMIM:617425
2137	EXTL3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2137	EXTL3	HP:0031545	Abnormally low T cell receptor excision circle level	3/3	OMIM:617425
2137	EXTL3	HP:0000490	Deeply set eye	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0000463	Anteverted nares	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0000463	Anteverted nares	1/2	OMIM:617425
2137	EXTL3	HP:0000455	Broad nasal tip	3/7	OMIM:617425
2137	EXTL3	HP:0000470	Short neck	1/7	OMIM:615777
2137	EXTL3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2137	EXTL3	HP:0001763	Pes planus	1/7	OMIM:615777
2137	EXTL3	HP:0000448	Prominent nose	1/7	OMIM:617425
2137	EXTL3	HP:0000414	Bulbous nose	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0005415	Decreased CD8+ T cell proportion	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0005403	Decreased total T cell count	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0001840	Metatarsus adductus	-	OMIM:615777
2137	EXTL3	HP:0000520	Proptosis	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0000520	Proptosis	2/4	OMIM:131300
2137	EXTL3	HP:0000520	Proptosis	7/7	OMIM:615777
2137	EXTL3	HP:0001830	Postaxial foot polydactyly	HP:0040283	ORPHA:508533
2137	EXTL3	HP:0004060	Trident hand	1/1	OMIM:617425
2137	EXTL3	HP:0000582	Upslanted palpebral fissure	2/6	OMIM:617425
2137	EXTL3	HP:0000592	Blue sclerae	2/7	OMIM:615777
2137	EXTL3	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:508533
2137	EXTL3	HP:0001888	Decreased total lymphocyte count	1/9	OMIM:617425
2137	EXTL3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2137	EXTL3	HP:0001880	Increased total eosinophil count	3/9	OMIM:617425
2137	EXTL3	HP:0012514	Lower limb pain	4/4	OMIM:131300
2138	EYA1	HP:0008609	Abnormal middle ear morphology	HP:0040282	ORPHA:52429
2138	EYA1	HP:0008586	Hypoplasia of the cochlea	1/1	OMIM:166780
2138	EYA1	HP:0008586	Hypoplasia of the cochlea	-	OMIM:602588
2138	EYA1	HP:0008586	Hypoplasia of the cochlea	6/15	OMIM:113650
2138	EYA1	HP:0008586	Hypoplasia of the cochlea	HP:0040282	ORPHA:107
2138	EYA1	HP:0008551	Microtia	2/15	OMIM:113650
2138	EYA1	HP:0008551	Microtia	HP:0040283	ORPHA:107
2138	EYA1	HP:0008551	Microtia	-	OMIM:602588
2138	EYA1	HP:0008554	Cochlear malformation	-	OMIM:602588
2138	EYA1	HP:0001276	Hypertonia	HP:0040281	ORPHA:2792
2138	EYA1	HP:0001256	Intellectual disability, mild	0/1	OMIM:166780
2138	EYA1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2792
2138	EYA1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2792
2138	EYA1	HP:0002566	Intestinal malrotation	-	OMIM:113650
2138	EYA1	HP:0008678	Renal hypoplasia/aplasia	HP:0040282	ORPHA:107
2138	EYA1	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2792
2138	EYA1	HP:0003828	Variable expressivity	-	OMIM:602588
2138	EYA1	HP:0003829	Typified by incomplete penetrance	-	OMIM:113650
2138	EYA1	HP:0003829	Typified by incomplete penetrance	-	OMIM:602588
2138	EYA1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:107
2138	EYA1	HP:0000076	Vesicoureteral reflux	1/13	OMIM:113650
2138	EYA1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:107
2138	EYA1	HP:0000074	Ureteropelvic junction obstruction	HP:0040283	ORPHA:107
2138	EYA1	HP:0001374	Congenital hip dislocation	-	OMIM:113650
2138	EYA1	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:2792
2138	EYA1	HP:0007477	Abnormal dermatoglyphics	HP:0040281	ORPHA:2792
2138	EYA1	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:107
2138	EYA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:602588
2138	EYA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:166780
2138	EYA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:113650
2138	EYA1	HP:0000193	Bifid uvula	-	OMIM:113650
2138	EYA1	HP:0000175	Cleft palate	-	OMIM:113650
2138	EYA1	HP:0000175	Cleft palate	HP:0040283	ORPHA:107
2138	EYA1	HP:0000175	Cleft palate	HP:0040283	ORPHA:52429
2138	EYA1	HP:0007678	Lacrimal duct stenosis	-	OMIM:113650
2138	EYA1	HP:0000122	Unilateral renal agenesis	2/13	OMIM:113650
2138	EYA1	HP:0000113	Polycystic kidney dysplasia	-	OMIM:113650
2138	EYA1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:107
2138	EYA1	HP:0000110	Renal dysplasia	1/13	OMIM:113650
2138	EYA1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:2792
2138	EYA1	HP:0002060	Abnormal cerebral morphology	-	OMIM:113650
2138	EYA1	HP:0100581	Dilatation of renal calices	HP:0040283	ORPHA:107
2138	EYA1	HP:0004742	Abnormal renal collecting system morphology	-	OMIM:113650
2138	EYA1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:2792
2138	EYA1	HP:0004712	Renal malrotation	-	OMIM:113650
2138	EYA1	HP:0009738	Abnormal antihelix morphology	HP:0040282	ORPHA:2792
2138	EYA1	HP:0010628	Facial palsy	-	OMIM:113650
2138	EYA1	HP:0010628	Facial palsy	HP:0040283	ORPHA:107
2138	EYA1	HP:0010628	Facial palsy	HP:0040283	ORPHA:52429
2138	EYA1	HP:0003691	Scapular winging	HP:0040281	ORPHA:2792
2138	EYA1	HP:0003691	Scapular winging	-	OMIM:166780
2138	EYA1	HP:0200021	Down-sloping shoulders	HP:0040281	ORPHA:2792
2138	EYA1	HP:0200021	Down-sloping shoulders	1/1	OMIM:166780
2138	EYA1	HP:0009795	Branchial fistula	-	OMIM:602588
2138	EYA1	HP:0009795	Branchial fistula	HP:0040282	ORPHA:52429
2138	EYA1	HP:0009795	Branchial fistula	11/16	OMIM:113650
2138	EYA1	HP:0009794	Branchial anomaly	HP:0040282	ORPHA:107
2138	EYA1	HP:0009797	Cholesteatoma	-	OMIM:113650
2138	EYA1	HP:0009796	Branchial cyst	4/16	OMIM:113650
2138	EYA1	HP:0009796	Branchial cyst	HP:0040282	ORPHA:107
2138	EYA1	HP:0009798	Euthyroid goiter	-	OMIM:113650
2138	EYA1	HP:0009798	Euthyroid goiter	HP:0040283	ORPHA:107
2138	EYA1	HP:0011388	Enlarged cochlear aqueduct	HP:0040282	ORPHA:107
2138	EYA1	HP:0011395	Aplasia/Hypoplasia of the cochlea	HP:0040282	ORPHA:107
2138	EYA1	HP:0000632	Lacrimation abnormality	-	OMIM:113650
2138	EYA1	HP:0000614	Abnormal nasolacrimal system morphology	HP:0040283	ORPHA:52429
2138	EYA1	HP:0011387	Enlarged vestibular aqueduct	5/15	OMIM:113650
2138	EYA1	HP:0011387	Enlarged vestibular aqueduct	HP:0040282	ORPHA:107
2138	EYA1	HP:0011342	Mild global developmental delay	2/17	OMIM:113650
2138	EYA1	HP:0000691	Microdontia	-	OMIM:113650
2138	EYA1	HP:0004322	Short stature	HP:0040281	ORPHA:2792
2138	EYA1	HP:0011481	Abnormal lacrimal duct morphology	HP:0040283	ORPHA:107
2138	EYA1	HP:0000799	Renal steatosis	-	OMIM:113650
2138	EYA1	HP:0004452	Abnormality of the middle ear ossicles	HP:0040282	ORPHA:107
2138	EYA1	HP:0040106	Abnormal lateral semicircular canal morphology	HP:0040283	ORPHA:107
2138	EYA1	HP:0004467	Preauricular pit	12/16	OMIM:113650
2138	EYA1	HP:0004467	Preauricular pit	HP:0040281	ORPHA:107
2138	EYA1	HP:0004467	Preauricular pit	-	OMIM:602588
2138	EYA1	HP:0004467	Preauricular pit	HP:0040281	ORPHA:52429
2138	EYA1	HP:0004467	Preauricular pit	HP:0040281	ORPHA:2792
2138	EYA1	HP:0004467	Preauricular pit	1/1	OMIM:166780
2138	EYA1	HP:0004458	Dilatated internal auditory canal	-	OMIM:602588
2138	EYA1	HP:0004458	Dilatated internal auditory canal	-	OMIM:113650
2138	EYA1	HP:0000889	Abnormal clavicle morphology	HP:0040281	ORPHA:2792
2138	EYA1	HP:0100267	Lip pit	HP:0040283	ORPHA:52429
2138	EYA1	HP:0100274	Gustatory lacrimation	1/17	OMIM:113650
2138	EYA1	HP:0100274	Gustatory lacrimation	HP:0040283	ORPHA:107
2138	EYA1	HP:0100272	Branchial sinus	HP:0040282	ORPHA:107
2138	EYA1	HP:0000278	Retrognathia	HP:0040283	ORPHA:107
2138	EYA1	HP:0000278	Retrognathia	-	OMIM:602588
2138	EYA1	HP:0000293	Full cheeks	HP:0040281	ORPHA:2792
2138	EYA1	HP:0000275	Narrow face	-	OMIM:113650
2138	EYA1	HP:0000275	Narrow face	1/1	OMIM:166780
2138	EYA1	HP:0000276	Long face	-	OMIM:113650
2138	EYA1	HP:0000276	Long face	1/1	OMIM:166780
2138	EYA1	HP:0000218	High palate	HP:0040281	ORPHA:2792
2138	EYA1	HP:0000218	High palate	1/17	OMIM:113650
2138	EYA1	HP:0000218	High palate	1/1	OMIM:166780
2138	EYA1	HP:0011094	Increased overbite	-	OMIM:113650
2138	EYA1	HP:0000384	Preauricular skin tag	-	OMIM:113650
2138	EYA1	HP:0000384	Preauricular skin tag	HP:0040282	ORPHA:107
2138	EYA1	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:52429
2138	EYA1	HP:0000378	Cupped ear	6/15	OMIM:113650
2138	EYA1	HP:0000378	Cupped ear	-	OMIM:602588
2138	EYA1	HP:0000378	Cupped ear	1/1	OMIM:166780
2138	EYA1	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:107
2138	EYA1	HP:0000394	Lop ear	HP:0040282	ORPHA:107
2138	EYA1	HP:0000365	Hearing impairment	HP:0040281	ORPHA:107
2138	EYA1	HP:0000365	Hearing impairment	HP:0040281	ORPHA:52429
2138	EYA1	HP:0000359	Abnormality of the inner ear	HP:0040282	ORPHA:52429
2138	EYA1	HP:0000359	Abnormality of the inner ear	HP:0040281	ORPHA:107
2138	EYA1	HP:0000356	Abnormality of the outer ear	HP:0040283	ORPHA:107
2138	EYA1	HP:0000356	Abnormality of the outer ear	HP:0040282	ORPHA:52429
2138	EYA1	HP:0000376	Incomplete partition of the cochlea type II	1/17	OMIM:113650
2138	EYA1	HP:0000370	Abnormality of the middle ear	HP:0040281	ORPHA:107
2138	EYA1	HP:0000369	Low-set ears	-	OMIM:602588
2138	EYA1	HP:0000347	Micrognathia	HP:0040283	ORPHA:52429
2138	EYA1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:107
2138	EYA1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:52429
2138	EYA1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:2792
2138	EYA1	HP:0007925	Lacrimal duct aplasia	-	OMIM:113650
2138	EYA1	HP:0007925	Lacrimal duct aplasia	HP:0040283	ORPHA:107
2138	EYA1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:107
2138	EYA1	HP:0000407	Sensorineural hearing impairment	-	OMIM:602588
2138	EYA1	HP:0000407	Sensorineural hearing impairment	-	OMIM:113650
2138	EYA1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:52429
2138	EYA1	HP:0000405	Conductive hearing impairment	7/17	OMIM:113650
2138	EYA1	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:107
2138	EYA1	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:52429
2138	EYA1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:2792
2138	EYA1	HP:0000405	Conductive hearing impairment	-	OMIM:166780
2138	EYA1	HP:0000400	Macrotia	HP:0040281	ORPHA:2792
2138	EYA1	HP:0000402	Stenosis of the external auditory canal	-	OMIM:113650
2138	EYA1	HP:0000402	Stenosis of the external auditory canal	HP:0040282	ORPHA:107
2138	EYA1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:2792
2138	EYA1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:2792
2138	EYA1	HP:0000460	Narrow nose	-	OMIM:166780
2138	EYA1	HP:0000472	Long neck	-	OMIM:166780
2138	EYA1	HP:0000411	Protruding ear	HP:0040281	ORPHA:2792
2138	EYA1	HP:0000410	Mixed hearing impairment	4/17	OMIM:113650
2138	EYA1	HP:0000410	Mixed hearing impairment	HP:0040282	ORPHA:107
2138	EYA1	HP:0000410	Mixed hearing impairment	-	OMIM:602588
2138	EYA1	HP:0000410	Mixed hearing impairment	1/1	OMIM:166780
2138	EYA1	HP:0000413	Atresia of the external auditory canal	HP:0040282	ORPHA:107
2138	EYA1	HP:0000413	Atresia of the external auditory canal	HP:0040282	ORPHA:52429
2138	EYA1	HP:0000413	Atresia of the external auditory canal	HP:0040283	ORPHA:2792
2146	EZH2	HP:0001176	Large hands	-	OMIM:277590
2146	EZH2	HP:0001176	Large hands	HP:0040282	ORPHA:3447
2146	EZH2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2146	EZH2	HP:0001293	Cranial nerve compression	-	OMIM:131300
2146	EZH2	HP:0001290	Generalized hypotonia	-	OMIM:277590
2146	EZH2	HP:0001276	Hypertonia	1/3	OMIM:277590
2146	EZH2	HP:0001276	Hypertonia	HP:0040281	ORPHA:3447
2146	EZH2	HP:0001256	Intellectual disability, mild	3/3	OMIM:277590
2146	EZH2	HP:0001250	Seizure	-	OMIM:277590
2146	EZH2	HP:0001252	Hypotonia	2/3	OMIM:277590
2146	EZH2	HP:0001252	Hypotonia	2/7	OMIM:615777
2146	EZH2	HP:0001249	Intellectual disability	-	OMIM:277590
2146	EZH2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3447
2146	EZH2	HP:0001249	Intellectual disability	5/7	OMIM:615777
2146	EZH2	HP:0001260	Dysarthria	-	OMIM:277590
2146	EZH2	HP:0002591	Polyphagia	2/3	OMIM:277590
2146	EZH2	HP:0001263	Global developmental delay	-	OMIM:277590
2146	EZH2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3447
2146	EZH2	HP:0001263	Global developmental delay	-	OMIM:615777
2146	EZH2	HP:0001257	Spasticity	-	OMIM:277590
2146	EZH2	HP:0001257	Spasticity	HP:0040281	ORPHA:3447
2146	EZH2	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:3447
2146	EZH2	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:3447
2146	EZH2	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:3447
2146	EZH2	HP:0001212	Prominent fingertip pads	3/3	OMIM:277590
2146	EZH2	HP:0002515	Waddling gait	54/102	OMIM:131300
2146	EZH2	HP:0000098	Tall stature	HP:0040281	ORPHA:3447
2146	EZH2	HP:0001377	Limited elbow extension	2/3	OMIM:277590
2146	EZH2	HP:0001387	Joint stiffness	HP:0040282	ORPHA:3447
2146	EZH2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:3447
2146	EZH2	HP:0001382	Joint hypermobility	-	OMIM:615777
2146	EZH2	HP:0000023	Inguinal hernia	-	OMIM:277590
2146	EZH2	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:3447
2146	EZH2	HP:0001350	Slurred speech	-	OMIM:277590
2146	EZH2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2146	EZH2	HP:0000034	Hydrocele testis	-	OMIM:277590
2146	EZH2	HP:0000028	Cryptorchidism	-	OMIM:277590
2146	EZH2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:3447
2146	EZH2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2146	EZH2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:3447
2146	EZH2	HP:0003911	Flared humeral metaphysis	-	OMIM:277590
2146	EZH2	HP:0001331	Absent septum pellucidum	-	OMIM:277590
2146	EZH2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2146	EZH2	HP:0001324	Muscle weakness	40/96	OMIM:131300
2146	EZH2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2146	EZH2	HP:0002673	Coxa valga	-	OMIM:277590
2146	EZH2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2146	EZH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:277590
2146	EZH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2146	EZH2	HP:0002650	Scoliosis	-	OMIM:277590
2146	EZH2	HP:0002650	Scoliosis	HP:0040283	ORPHA:3447
2146	EZH2	HP:0002650	Scoliosis	12/14	OMIM:131300
2146	EZH2	HP:0001321	Cerebellar hypoplasia	1/2	OMIM:277590
2146	EZH2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2146	EZH2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2146	EZH2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2146	EZH2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2146	EZH2	HP:0000175	Cleft palate	2/7	OMIM:615777
2146	EZH2	HP:0004689	Short fourth metatarsal	1/3	OMIM:277590
2146	EZH2	HP:0002002	Deep philtrum	HP:0040282	ORPHA:3447
2146	EZH2	HP:0002069	Bilateral tonic-clonic seizure	1/3	OMIM:277590
2146	EZH2	HP:0003388	Easy fatigability	36/76	OMIM:131300
2146	EZH2	HP:0009466	Radial deviation of finger	-	OMIM:277590
2146	EZH2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2146	EZH2	HP:0009473	Joint contracture of the hand	-	OMIM:277590
2146	EZH2	HP:0002121	Generalized non-motor (absence) seizure	1/3	OMIM:277590
2146	EZH2	HP:0002119	Ventriculomegaly	1/2	OMIM:277590
2146	EZH2	HP:0002188	Delayed CNS myelination	1/1	OMIM:277590
2146	EZH2	HP:0002172	Postural instability	3/3	OMIM:277590
2146	EZH2	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:3447
2146	EZH2	HP:0002213	Fine hair	11/13	OMIM:277590
2146	EZH2	HP:0002213	Fine hair	HP:0040282	ORPHA:3447
2146	EZH2	HP:0007010	Poor fine motor coordination	3/3	OMIM:277590
2146	EZH2	HP:0003510	Severe short stature	7/7	OMIM:615777
2146	EZH2	HP:0002315	Headache	-	OMIM:131300
2146	EZH2	HP:0004976	Knee dislocation	6/7	OMIM:615777
2146	EZH2	HP:0200000	Dysharmonic skeletal maturation	-	OMIM:277590
2146	EZH2	HP:0009803	Short phalanx of finger	-	OMIM:615777
2146	EZH2	HP:0010751	Dimple chin	-	OMIM:277590
2146	EZH2	HP:0009763	Limb pain	63/92	OMIM:131300
2146	EZH2	HP:0003621	Juvenile onset	-	OMIM:131300
2146	EZH2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2146	EZH2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2146	EZH2	HP:6001056	Out-toeing	-	OMIM:131300
2146	EZH2	HP:0000651	Diplopia	-	OMIM:131300
2146	EZH2	HP:0001956	Truncal obesity	2/7	OMIM:615777
2146	EZH2	HP:0001903	Anemia	HP:0040283	OMIM:131300
2146	EZH2	HP:0010049	Short metacarpal	-	OMIM:615777
2146	EZH2	HP:0000678	Dental crowding	-	OMIM:615777
2146	EZH2	HP:0000670	Carious teeth	-	OMIM:131300
2146	EZH2	HP:0011304	Broad thumb	2/7	OMIM:615777
2146	EZH2	HP:0011304	Broad thumb	2/3	OMIM:277590
2146	EZH2	HP:0011304	Broad thumb	HP:0040282	ORPHA:3447
2146	EZH2	HP:0000668	Hypodontia	-	OMIM:615777
2146	EZH2	HP:0000664	Synophrys	-	OMIM:615777
2146	EZH2	HP:0006956	Lateral ventricle dilatation	-	OMIM:277590
2146	EZH2	HP:0005616	Accelerated skeletal maturation	3/3	OMIM:277590
2146	EZH2	HP:0005616	Accelerated skeletal maturation	HP:0040281	ORPHA:3447
2146	EZH2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:3447
2146	EZH2	HP:0003066	Limited knee extension	2/3	OMIM:277590
2146	EZH2	HP:0004396	Poor appetite	-	OMIM:131300
2146	EZH2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2146	EZH2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2146	EZH2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2146	EZH2	HP:0003026	Short long bone	7/7	OMIM:615777
2146	EZH2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2146	EZH2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2146	EZH2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2146	EZH2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2146	EZH2	HP:0000750	Delayed speech and language development	-	OMIM:277590
2146	EZH2	HP:0000750	Delayed speech and language development	-	OMIM:615777
2146	EZH2	HP:0000708	Atypical behavior	-	OMIM:277590
2146	EZH2	HP:0011461	Fetal onset	7/7	OMIM:615777
2146	EZH2	HP:0011461	Fetal onset	3/3	OMIM:277590
2146	EZH2	HP:0000774	Narrow chest	2/7	OMIM:615777
2146	EZH2	HP:0000773	Short ribs	-	OMIM:277590
2146	EZH2	HP:0000926	Platyspondyly	1/7	OMIM:615777
2146	EZH2	HP:0003186	Inverted nipples	1/3	OMIM:277590
2146	EZH2	HP:0003180	Flat acetabular roof	-	OMIM:615777
2146	EZH2	HP:0004482	Relative macrocephaly	-	OMIM:615777
2146	EZH2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2146	EZH2	HP:0000823	Delayed puberty	-	OMIM:131300
2146	EZH2	HP:0000894	Short clavicles	-	OMIM:615777
2146	EZH2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2146	EZH2	HP:0000995	Melanocytic nevus	2/3	OMIM:277590
2146	EZH2	HP:0010300	Abnormally low-pitched voice	-	OMIM:277590
2146	EZH2	HP:0010300	Abnormally low-pitched voice	HP:0040281	ORPHA:3447
2146	EZH2	HP:0000973	Cutis laxa	2/3	OMIM:277590
2146	EZH2	HP:0000954	Single transverse palmar crease	0/3	OMIM:277590
2146	EZH2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2146	EZH2	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:3447
2146	EZH2	HP:0008070	Sparse hair	-	OMIM:277590
2146	EZH2	HP:0000286	Epicanthus	-	OMIM:277590
2146	EZH2	HP:0000286	Epicanthus	1/7	OMIM:615777
2146	EZH2	HP:0000280	Coarse facial features	2/7	OMIM:615777
2146	EZH2	HP:0000278	Retrognathia	3/3	OMIM:277590
2146	EZH2	HP:0000278	Retrognathia	HP:0040281	ORPHA:3447
2146	EZH2	HP:0000256	Macrocephaly	3/3	OMIM:277590
2146	EZH2	HP:0000256	Macrocephaly	HP:0040281	ORPHA:3447
2146	EZH2	HP:0002827	Hip dislocation	3/7	OMIM:615777
2146	EZH2	HP:0030084	Clinodactyly	-	OMIM:277590
2146	EZH2	HP:0002808	Kyphosis	-	OMIM:277590
2146	EZH2	HP:0006387	Wide distal femoral metaphysis	1/2	OMIM:277590
2146	EZH2	HP:0000252	Microcephaly	-	OMIM:615777
2146	EZH2	HP:0001582	Redundant skin	HP:0040281	ORPHA:3447
2146	EZH2	HP:0001548	Overgrowth	3/3	OMIM:277590
2146	EZH2	HP:0002857	Genu valgum	-	OMIM:131300
2146	EZH2	HP:0001540	Diastasis recti	-	OMIM:277590
2146	EZH2	HP:0001537	Umbilical hernia	-	OMIM:277590
2146	EZH2	HP:0001533	Slender build	-	OMIM:131300
2146	EZH2	HP:0002866	Hypoplastic iliac wing	-	OMIM:277590
2146	EZH2	HP:0002834	Flared femoral metaphysis	-	OMIM:277590
2146	EZH2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2146	EZH2	HP:0007807	Optic nerve compression	-	OMIM:131300
2146	EZH2	HP:0012385	Camptodactyly	3/3	OMIM:277590
2146	EZH2	HP:0012368	Flat face	7/7	OMIM:615777
2146	EZH2	HP:0001609	Hoarse voice	HP:0040281	ORPHA:3447
2146	EZH2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2146	EZH2	HP:0001615	Hoarse cry	3/3	OMIM:277590
2146	EZH2	HP:0000365	Hearing impairment	10/67	OMIM:131300
2146	EZH2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:3447
2146	EZH2	HP:0000343	Long philtrum	3/3	OMIM:277590
2146	EZH2	HP:0000343	Long philtrum	HP:0040281	ORPHA:3447
2146	EZH2	HP:0000343	Long philtrum	1/7	OMIM:615777
2146	EZH2	HP:0011001	Increased bone mineral density	-	OMIM:131300
2146	EZH2	HP:0000337	Broad forehead	HP:0040281	ORPHA:3447
2146	EZH2	HP:0000347	Micrognathia	HP:0040281	ORPHA:3447
2146	EZH2	HP:0000316	Hypertelorism	2/3	OMIM:277590
2146	EZH2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:3447
2146	EZH2	HP:0001643	Patent ductus arteriosus	1/3	OMIM:277590
2146	EZH2	HP:0000311	Round face	2/7	OMIM:615777
2146	EZH2	HP:0000311	Round face	-	OMIM:277590
2146	EZH2	HP:0000311	Round face	HP:0040282	ORPHA:3447
2146	EZH2	HP:0002970	Genu varum	-	OMIM:615777
2146	EZH2	HP:0000303	Mandibular prognathia	-	OMIM:131300
2146	EZH2	HP:0000303	Mandibular prognathia	-	OMIM:277590
2146	EZH2	HP:0000400	Macrotia	3/3	OMIM:277590
2146	EZH2	HP:0000400	Macrotia	HP:0040281	ORPHA:3447
2146	EZH2	HP:0005280	Depressed nasal bridge	-	OMIM:277590
2146	EZH2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2146	EZH2	HP:0000486	Strabismus	-	OMIM:277590
2146	EZH2	HP:0000494	Downslanted palpebral fissures	3/3	OMIM:277590
2146	EZH2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:3447
2146	EZH2	HP:0000470	Short neck	1/7	OMIM:615777
2146	EZH2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2146	EZH2	HP:0001769	Broad foot	HP:0040282	ORPHA:3447
2146	EZH2	HP:0001763	Pes planus	1/7	OMIM:615777
2146	EZH2	HP:0001762	Talipes equinovarus	1/3	OMIM:277590
2146	EZH2	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:3447
2146	EZH2	HP:0001761	Pes cavus	-	OMIM:277590
2146	EZH2	HP:0001761	Pes cavus	HP:0040283	ORPHA:3447
2146	EZH2	HP:0005469	Flat occiput	2/3	OMIM:277590
2146	EZH2	HP:0001848	Calcaneovalgus deformity	-	OMIM:277590
2146	EZH2	HP:0001845	Overlapping toe	-	OMIM:277590
2146	EZH2	HP:0001840	Metatarsus adductus	-	OMIM:277590
2146	EZH2	HP:0001840	Metatarsus adductus	-	OMIM:615777
2146	EZH2	HP:0001852	Sandal gap	HP:0040283	ORPHA:3447
2146	EZH2	HP:0000520	Proptosis	2/4	OMIM:131300
2146	EZH2	HP:0000520	Proptosis	7/7	OMIM:615777
2146	EZH2	HP:0001800	Hypoplastic toenails	HP:0040281	ORPHA:3447
2146	EZH2	HP:0001816	Thin nail	3/3	OMIM:277590
2146	EZH2	HP:0001816	Thin nail	HP:0040281	ORPHA:3447
2146	EZH2	HP:0001814	Deep-set nails	-	OMIM:277590
2146	EZH2	HP:0001814	Deep-set nails	HP:0040281	ORPHA:3447
2146	EZH2	HP:0000592	Blue sclerae	2/7	OMIM:615777
2146	EZH2	HP:0001863	Toe clinodactyly	2/3	OMIM:277590
2146	EZH2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2146	EZH2	HP:0012514	Lower limb pain	4/4	OMIM:131300
2147	F2	HP:0001297	Stroke	-	OMIM:601367
2147	F2	HP:0003828	Variable expressivity	-	OMIM:613679
2147	F2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613679
2147	F2	HP:0000006	Autosomal dominant inheritance	-	OMIM:188050
2147	F2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614390
2147	F2	HP:0002625	Deep venous thrombosis	-	OMIM:188050
2147	F2	HP:0006298	Prolonged bleeding after dental extraction	HP:0040283	ORPHA:325
2147	F2	HP:0000132	Menorrhagia	-	OMIM:613679
2147	F2	HP:0000132	Menorrhagia	HP:0040283	ORPHA:325
2147	F2	HP:0001426	Non-Mendelian inheritance	-	OMIM:601367
2147	F2	HP:0008151	Prolonged prothrombin time	-	OMIM:613679
2147	F2	HP:0008151	Prolonged prothrombin time	HP:0040281	ORPHA:325
2147	F2	HP:0002170	Intracranial hemorrhage	HP:0040282	ORPHA:325
2147	F2	HP:0011884	Abnormal umbilical stump bleeding	HP:0040283	ORPHA:325
2147	F2	HP:0011890	Prolonged bleeding following procedure	HP:0040283	ORPHA:325
2147	F2	HP:0011891	Post-partum hemorrhage	HP:0040283	ORPHA:325
2147	F2	HP:0003577	Congenital onset	-	OMIM:613679
2147	F2	HP:0002239	Gastrointestinal hemorrhage	-	OMIM:613679
2147	F2	HP:0003581	Adult onset	-	OMIM:601367
2147	F2	HP:0002204	Pulmonary embolism	-	OMIM:188050
2147	F2	HP:0003645	Prolonged partial thromboplastin time	-	OMIM:613679
2147	F2	HP:0003645	Prolonged partial thromboplastin time	HP:0040281	ORPHA:325
2147	F2	HP:0200067	Recurrent spontaneous abortion	-	OMIM:614390
2147	F2	HP:0004936	Venous thrombosis	-	ORPHA:325
2147	F2	HP:0001907	Thromboembolism	-	OMIM:188050
2147	F2	HP:0001903	Anemia	HP:0040283	ORPHA:325
2147	F2	HP:0003010	Prolonged bleeding time	-	OMIM:613679
2147	F2	HP:0011463	Childhood onset	-	OMIM:188050
2147	F2	HP:0011462	Young adult onset	-	OMIM:614390
2147	F2	HP:0004420	Arterial thrombosis	-	ORPHA:325
2147	F2	HP:0004419	Recurrent thrombophlebitis	-	OMIM:188050
2147	F2	HP:0040250	Reduced prothrombin antigen	HP:0040281	ORPHA:325
2147	F2	HP:0000978	Bruising susceptibility	-	OMIM:613679
2147	F2	HP:0012233	Intramuscular hematoma	HP:0040283	ORPHA:325
2147	F2	HP:0000225	Gingival bleeding	-	OMIM:613679
2147	F2	HP:0031364	Ecchymosis	-	OMIM:613679
2147	F2	HP:0005261	Joint hemorrhage	-	OMIM:613679
2147	F2	HP:0005261	Joint hemorrhage	HP:0040282	ORPHA:325
2147	F2	HP:0002907	Microscopic hematuria	HP:0040283	ORPHA:325
2147	F2	HP:0030138	Excessive bleeding from superficial cuts	HP:0040283	ORPHA:325
2147	F2	HP:0030137	Prolonged bleeding following circumcision	HP:0040283	ORPHA:325
2147	F2	HP:0030140	Oral cavity bleeding	HP:0040283	ORPHA:325
2147	F2	HP:0005305	Cerebral venous thrombosis	-	OMIM:188050
2147	F2	HP:0000421	Epistaxis	HP:0040282	ORPHA:325
2147	F2	HP:0000421	Epistaxis	-	OMIM:613679
2147	F2	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:325
2147	F2	HP:0012541	Cephalohematoma	HP:0040283	ORPHA:325
2153	F5	HP:0002480	Hepatic encephalopathy	HP:0040283	ORPHA:131
2153	F5	HP:0001297	Stroke	-	OMIM:601367
2153	F5	HP:0002586	Peritonitis	HP:0040283	ORPHA:131
2153	F5	HP:0002573	Hematochezia	HP:0040284	ORPHA:326
2153	F5	HP:0007420	Spontaneous hematomas	HP:0040283	ORPHA:326
2153	F5	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:131
2153	F5	HP:0001394	Cirrhosis	6/43	OMIM:600880
2153	F5	HP:0001394	Cirrhosis	HP:0040282	ORPHA:131
2153	F5	HP:0000007	Autosomal recessive inheritance	-	OMIM:600880
2153	F5	HP:0000007	Autosomal recessive inheritance	-	OMIM:227400
2153	F5	HP:0000006	Autosomal dominant inheritance	-	OMIM:188055
2153	F5	HP:0000006	Autosomal dominant inheritance	-	OMIM:614389
2153	F5	HP:0002639	Budd-Chiari syndrome	-	OMIM:600880
2153	F5	HP:0002625	Deep venous thrombosis	-	OMIM:188055
2153	F5	HP:0012175	Resistance to activated protein C	-	OMIM:188055
2153	F5	HP:0006298	Prolonged bleeding after dental extraction	HP:0040283	ORPHA:326
2153	F5	HP:0000132	Menorrhagia	-	OMIM:227400
2153	F5	HP:0000132	Menorrhagia	HP:0040283	ORPHA:326
2153	F5	HP:0001426	Non-Mendelian inheritance	-	OMIM:601367
2153	F5	HP:0001409	Portal hypertension	HP:0040281	ORPHA:131
2153	F5	HP:0001402	Hepatocellular carcinoma	-	OMIM:600880
2153	F5	HP:0002024	Malabsorption	HP:0040283	ORPHA:131
2153	F5	HP:0002027	Abdominal pain	HP:0040282	ORPHA:131
2153	F5	HP:0002040	Esophageal varix	HP:0040282	ORPHA:131
2153	F5	HP:0008151	Prolonged prothrombin time	-	OMIM:227400
2153	F5	HP:0002105	Hemoptysis	HP:0040284	ORPHA:326
2153	F5	HP:0002170	Intracranial hemorrhage	HP:0040284	ORPHA:326
2153	F5	HP:0011890	Prolonged bleeding following procedure	HP:0040283	ORPHA:326
2153	F5	HP:0011891	Post-partum hemorrhage	HP:0040283	ORPHA:326
2153	F5	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:131
2153	F5	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:326
2153	F5	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:131
2153	F5	HP:0003581	Adult onset	-	OMIM:600880
2153	F5	HP:0003581	Adult onset	-	OMIM:188055
2153	F5	HP:0003581	Adult onset	-	OMIM:601367
2153	F5	HP:0100724	Hypercoagulability	-	OMIM:188055
2153	F5	HP:0004846	Prolonged bleeding after surgery	HP:0040283	ORPHA:326
2153	F5	HP:0003645	Prolonged partial thromboplastin time	-	OMIM:188055
2153	F5	HP:0003645	Prolonged partial thromboplastin time	-	OMIM:227400
2153	F5	HP:0100602	Preeclampsia	-	OMIM:188055
2153	F5	HP:0100608	Metrorrhagia	HP:0040284	ORPHA:326
2153	F5	HP:0200067	Recurrent spontaneous abortion	-	OMIM:614389
2153	F5	HP:0001082	Cholecystitis	HP:0040283	ORPHA:131
2153	F5	HP:0005542	Prolonged whole-blood clotting time	-	OMIM:227400
2153	F5	HP:0001945	Fever	HP:0040282	ORPHA:131
2153	F5	HP:0001934	Persistent bleeding after trauma	HP:0040283	ORPHA:326
2153	F5	HP:0003010	Prolonged bleeding time	-	OMIM:227400
2153	F5	HP:0011462	Young adult onset	-	OMIM:614389
2153	F5	HP:0000790	Hematuria	HP:0040283	ORPHA:326
2153	F5	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:131
2153	F5	HP:0003225	Reduced coagulation factor V activity	-	OMIM:227400
2153	F5	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:326
2153	F5	HP:0000978	Bruising susceptibility	-	OMIM:227400
2153	F5	HP:0000952	Jaundice	HP:0040283	ORPHA:131
2153	F5	HP:0033045	Bipedal edema	HP:0040282	ORPHA:131
2153	F5	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:326
2153	F5	HP:0001541	Ascites	HP:0040281	ORPHA:131
2153	F5	HP:0005261	Joint hemorrhage	HP:0040282	ORPHA:326
2153	F5	HP:0005244	Gastrointestinal infarctions	HP:0040283	ORPHA:131
2153	F5	HP:0005214	Intestinal obstruction	HP:0040283	ORPHA:131
2153	F5	HP:0006554	Acute hepatic failure	HP:0040283	ORPHA:131
2153	F5	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:131
2153	F5	HP:0030137	Prolonged bleeding following circumcision	HP:0040283	ORPHA:326
2153	F5	HP:0030140	Oral cavity bleeding	HP:0040283	ORPHA:326
2153	F5	HP:0030243	Hepatic vein thrombosis	HP:0040282	ORPHA:131
2153	F5	HP:0001744	Splenomegaly	HP:0040281	ORPHA:131
2153	F5	HP:0000421	Epistaxis	HP:0040282	ORPHA:326
2153	F5	HP:0000421	Epistaxis	-	OMIM:227400
2153	F5	HP:0001824	Weight loss	HP:0040283	ORPHA:131
2153	F5	HP:0001892	Abnormal bleeding	-	OMIM:227400
2155	F7	HP:0010881	Abnormality of the umbilical cord	HP:0040283	ORPHA:327
2155	F7	HP:0000007	Autosomal recessive inheritance	-	OMIM:227500
2155	F7	HP:0000138	Ovarian cyst	HP:0040283	ORPHA:327
2155	F7	HP:0006298	Prolonged bleeding after dental extraction	1/1	OMIM:227500
2155	F7	HP:0000132	Menorrhagia	1/1	OMIM:227500
2155	F7	HP:0000132	Menorrhagia	HP:0040282	ORPHA:327
2155	F7	HP:0008169	Reduced factor VII activity	1/1	OMIM:227500
2155	F7	HP:0008151	Prolonged prothrombin time	HP:0040282	ORPHA:327
2155	F7	HP:0002170	Intracranial hemorrhage	-	OMIM:227500
2155	F7	HP:0002170	Intracranial hemorrhage	HP:0040281	ORPHA:327
2155	F7	HP:0011891	Post-partum hemorrhage	HP:0040283	ORPHA:327
2155	F7	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:327
2155	F7	HP:0004846	Prolonged bleeding after surgery	HP:0040282	ORPHA:327
2155	F7	HP:0011463	Childhood onset	1/1	OMIM:227500
2155	F7	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:327
2155	F7	HP:0000978	Bruising susceptibility	1/1	OMIM:227500
2155	F7	HP:0012233	Intramuscular hematoma	-	OMIM:227500
2155	F7	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:327
2155	F7	HP:0005261	Joint hemorrhage	1/1	OMIM:227500
2155	F7	HP:0005261	Joint hemorrhage	HP:0040282	ORPHA:327
2155	F7	HP:0000421	Epistaxis	HP:0040282	ORPHA:327
2155	F7	HP:0000421	Epistaxis	1/1	OMIM:227500
2155	F7	HP:0001892	Abnormal bleeding	-	OMIM:227500
2157	F8	HP:0001250	Seizure	HP:0040284	ORPHA:169805
2157	F8	HP:0007420	Spontaneous hematomas	HP:0040284	ORPHA:177926
2157	F8	HP:0007420	Spontaneous hematomas	HP:0040284	ORPHA:169805
2157	F8	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:169805
2157	F8	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:169802
2157	F8	HP:0001386	Joint swelling	HP:0040283	ORPHA:169805
2157	F8	HP:0001386	Joint swelling	HP:0040282	ORPHA:169802
2157	F8	HP:0002625	Deep venous thrombosis	7/7	OMIM:301071
2157	F8	HP:0006298	Prolonged bleeding after dental extraction	HP:0040282	ORPHA:177926
2157	F8	HP:0006298	Prolonged bleeding after dental extraction	HP:0040283	ORPHA:169805
2157	F8	HP:0000132	Menorrhagia	HP:0040282	ORPHA:177926
2157	F8	HP:0000132	Menorrhagia	HP:0040283	ORPHA:169802
2157	F8	HP:0002758	Osteoarthritis	-	OMIM:306700
2157	F8	HP:0001423	X-linked dominant inheritance	-	OMIM:301071
2157	F8	HP:0001419	X-linked recessive inheritance	-	OMIM:306700
2157	F8	HP:0030977	Increased factor VIII activity	7/7	OMIM:301071
2157	F8	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:169805
2157	F8	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:169802
2157	F8	HP:0011889	Bleeding with minor or no trauma	HP:0040282	ORPHA:169805
2157	F8	HP:0011890	Prolonged bleeding following procedure	HP:0040282	ORPHA:177926
2157	F8	HP:0011891	Post-partum hemorrhage	HP:0040282	ORPHA:177926
2157	F8	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:169805
2157	F8	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:169802
2157	F8	HP:0003581	Adult onset	7/7	OMIM:301071
2157	F8	HP:0002249	Melena	19/151	OMIM:306700
2157	F8	HP:0002248	Hematemesis	19/151	OMIM:306700
2157	F8	HP:0002204	Pulmonary embolism	4/7	OMIM:301071
2157	F8	HP:0100773	Cartilage destruction	HP:0040283	ORPHA:169805
2157	F8	HP:0100769	Synovitis	HP:0040283	ORPHA:169805
2157	F8	HP:0100769	Synovitis	HP:0040283	ORPHA:169802
2157	F8	HP:0008330	Reduced von Willebrand factor activity	HP:0040283	ORPHA:169802
2157	F8	HP:0004846	Prolonged bleeding after surgery	HP:0040282	ORPHA:177926
2157	F8	HP:0004846	Prolonged bleeding after surgery	HP:0040283	ORPHA:169805
2157	F8	HP:0004846	Prolonged bleeding after surgery	HP:0040282	ORPHA:169802
2157	F8	HP:0001058	Poor wound healing	HP:0040282	ORPHA:169802
2157	F8	HP:0002315	Headache	HP:0040283	ORPHA:169805
2157	F8	HP:0002315	Headache	HP:0040283	ORPHA:169802
2157	F8	HP:0003645	Prolonged partial thromboplastin time	HP:0040283	ORPHA:177926
2157	F8	HP:0003645	Prolonged partial thromboplastin time	-	OMIM:306700
2157	F8	HP:0003645	Prolonged partial thromboplastin time	HP:0040281	ORPHA:169805
2157	F8	HP:0003645	Prolonged partial thromboplastin time	HP:0040281	ORPHA:169802
2157	F8	HP:0001933	Subcutaneous hemorrhage	HP:0040282	ORPHA:169805
2157	F8	HP:0001934	Persistent bleeding after trauma	116/151	OMIM:306700
2157	F8	HP:0001934	Persistent bleeding after trauma	HP:0040282	ORPHA:169802
2157	F8	HP:0001903	Anemia	HP:0040283	ORPHA:169802
2157	F8	HP:0003040	Arthropathy	HP:0040283	ORPHA:169805
2157	F8	HP:0000790	Hematuria	HP:0040283	ORPHA:169805
2157	F8	HP:0003125	Reduced factor VIII activity	-	OMIM:306700
2157	F8	HP:0003125	Reduced factor VIII activity	HP:0040281	ORPHA:177926
2157	F8	HP:0003125	Reduced factor VIII activity	HP:0040281	ORPHA:169805
2157	F8	HP:0003125	Reduced factor VIII activity	HP:0040281	ORPHA:169802
2157	F8	HP:0003121	Limb joint contracture	HP:0040283	ORPHA:169802
2157	F8	HP:0030746	Intraventricular hemorrhage	HP:0040284	ORPHA:169805
2157	F8	HP:0100310	Epidural hemorrhage	HP:0040284	ORPHA:169805
2157	F8	HP:0100310	Epidural hemorrhage	HP:0040283	ORPHA:169802
2157	F8	HP:0100309	Subdural hemorrhage	HP:0040283	ORPHA:169805
2157	F8	HP:0100309	Subdural hemorrhage	HP:0040283	ORPHA:169802
2157	F8	HP:0040242	Muscle hemorrhage	-	OMIM:306700
2157	F8	HP:0003273	Hip contracture	HP:0040284	ORPHA:169805
2157	F8	HP:0000979	Purpura	7/151	OMIM:306700
2157	F8	HP:0000978	Bruising susceptibility	HP:0040281	ORPHA:177926
2157	F8	HP:0000978	Bruising susceptibility	132/151	OMIM:306700
2157	F8	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:169802
2157	F8	HP:0000967	Petechiae	7/151	OMIM:306700
2157	F8	HP:0002829	Arthralgia	HP:0040282	ORPHA:169805
2157	F8	HP:0002829	Arthralgia	HP:0040283	ORPHA:169802
2157	F8	HP:0012233	Intramuscular hematoma	HP:0040282	ORPHA:169805
2157	F8	HP:0012233	Intramuscular hematoma	HP:0040283	ORPHA:169802
2157	F8	HP:0000225	Gingival bleeding	39/151	OMIM:306700
2157	F8	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:169805
2157	F8	HP:0005261	Joint hemorrhage	HP:0040283	ORPHA:177926
2157	F8	HP:0005261	Joint hemorrhage	HP:0040282	ORPHA:169805
2157	F8	HP:0005261	Joint hemorrhage	HP:0040282	ORPHA:169802
2157	F8	HP:0005261	Joint hemorrhage	96/151	OMIM:306700
2157	F8	HP:0005187	Progressive joint destruction	HP:0040283	ORPHA:169802
2157	F8	HP:0030137	Prolonged bleeding following circumcision	HP:0040283	ORPHA:169802
2157	F8	HP:0030140	Oral cavity bleeding	HP:0040282	ORPHA:169802
2157	F8	HP:0000421	Epistaxis	HP:0040282	ORPHA:177926
2157	F8	HP:0000421	Epistaxis	21/151	OMIM:306700
2157	F8	HP:0000421	Epistaxis	HP:0040282	ORPHA:169802
2157	F8	HP:0012587	Macroscopic hematuria	HP:0040283	ORPHA:169802
2157	F8	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:177926
2157	F8	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:169805
2157	F8	HP:0012541	Cephalohematoma	HP:0040283	ORPHA:169802
2158	F9	HP:0002625	Deep venous thrombosis	1/1	OMIM:300807
2158	F9	HP:0002758	Osteoarthritis	-	OMIM:306900
2158	F9	HP:0001419	X-linked recessive inheritance	-	OMIM:306900
2158	F9	HP:0001419	X-linked recessive inheritance	-	OMIM:300807
2158	F9	HP:0008151	Prolonged prothrombin time	0/31	OMIM:306900
2158	F9	HP:0011858	Reduced factor IX activity	31/31	OMIM:306900
2158	F9	HP:0002239	Gastrointestinal hemorrhage	-	OMIM:306900
2158	F9	HP:0002249	Melena	4/31	OMIM:306900
2158	F9	HP:0002248	Hematemesis	4/31	OMIM:306900
2158	F9	HP:0100724	Hypercoagulability	-	OMIM:300807
2158	F9	HP:0003645	Prolonged partial thromboplastin time	-	OMIM:306900
2158	F9	HP:0005542	Prolonged whole-blood clotting time	-	OMIM:306900
2158	F9	HP:0001934	Persistent bleeding after trauma	27/31	OMIM:306900
2158	F9	HP:0000790	Hematuria	2/31	OMIM:306900
2158	F9	HP:0033061	Increased factor IX activity	1/1	OMIM:300807
2158	F9	HP:0000978	Bruising susceptibility	29/31	OMIM:306900
2158	F9	HP:0000967	Petechiae	2/31	OMIM:306900
2158	F9	HP:0005261	Joint hemorrhage	25/31	OMIM:306900
2158	F9	HP:0000421	Epistaxis	7/31	OMIM:306900
2159	F10	HP:0007420	Spontaneous hematomas	HP:0040283	ORPHA:328
2159	F10	HP:0025328	Antepartum hemorrhage	HP:0040283	ORPHA:328
2159	F10	HP:0000007	Autosomal recessive inheritance	-	OMIM:227600
2159	F10	HP:0006298	Prolonged bleeding after dental extraction	HP:0040281	ORPHA:328
2159	F10	HP:0000132	Menorrhagia	-	OMIM:227600
2159	F10	HP:0000132	Menorrhagia	HP:0040283	ORPHA:328
2159	F10	HP:0008151	Prolonged prothrombin time	1/1	OMIM:227600
2159	F10	HP:0008151	Prolonged prothrombin time	HP:0040280	ORPHA:328
2159	F10	HP:0002138	Subarachnoid hemorrhage	HP:0040284	ORPHA:328
2159	F10	HP:0002170	Intracranial hemorrhage	-	OMIM:227600
2159	F10	HP:0011884	Abnormal umbilical stump bleeding	HP:0040283	ORPHA:328
2159	F10	HP:0011891	Post-partum hemorrhage	HP:0040283	ORPHA:328
2159	F10	HP:0011854	Hemoperitoneum	HP:0040284	ORPHA:328
2159	F10	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:328
2159	F10	HP:0008321	Reduced factor X activity	1/1	OMIM:227600
2159	F10	HP:0008321	Reduced factor X activity	HP:0040280	ORPHA:328
2159	F10	HP:0004846	Prolonged bleeding after surgery	1/1	OMIM:227600
2159	F10	HP:0004846	Prolonged bleeding after surgery	HP:0040281	ORPHA:328
2159	F10	HP:0003645	Prolonged partial thromboplastin time	-	OMIM:227600
2159	F10	HP:0000790	Hematuria	HP:0040283	ORPHA:328
2159	F10	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:328
2159	F10	HP:0012233	Intramuscular hematoma	-	OMIM:227600
2159	F10	HP:0012233	Intramuscular hematoma	HP:0040283	ORPHA:328
2159	F10	HP:0000225	Gingival bleeding	-	OMIM:227600
2159	F10	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:328
2159	F10	HP:0005261	Joint hemorrhage	-	OMIM:227600
2159	F10	HP:0005261	Joint hemorrhage	HP:0040283	ORPHA:328
2159	F10	HP:0030140	Oral cavity bleeding	HP:0040283	ORPHA:328
2159	F10	HP:0000421	Epistaxis	-	OMIM:227600
2159	F10	HP:0000421	Epistaxis	HP:0040282	ORPHA:328
2160	F11	HP:0010989	Abnormality of the intrinsic pathway	HP:0040281	ORPHA:329
2160	F11	HP:0000007	Autosomal recessive inheritance	-	OMIM:612416
2160	F11	HP:0000006	Autosomal dominant inheritance	-	OMIM:612416
2160	F11	HP:0006298	Prolonged bleeding after dental extraction	HP:0040281	ORPHA:329
2160	F11	HP:0000132	Menorrhagia	HP:0040282	ORPHA:329
2160	F11	HP:0002239	Gastrointestinal hemorrhage	HP:0040284	ORPHA:329
2160	F11	HP:0003645	Prolonged partial thromboplastin time	-	OMIM:612416
2160	F11	HP:0003645	Prolonged partial thromboplastin time	HP:0040281	ORPHA:329
2160	F11	HP:0001929	Reduced factor XI activity	HP:0040281	ORPHA:329
2160	F11	HP:0001929	Reduced factor XI activity	-	OMIM:612416
2160	F11	HP:0005261	Joint hemorrhage	HP:0040284	ORPHA:329
2160	F11	HP:0000421	Epistaxis	HP:0040282	ORPHA:329
2160	F11	HP:0001892	Abnormal bleeding	-	OMIM:612416
2160	F11	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:329
2161	F12	HP:0002574	Episodic abdominal pain	-	OMIM:610618
2161	F12	HP:0000007	Autosomal recessive inheritance	-	OMIM:234000
2161	F12	HP:0000006	Autosomal dominant inheritance	-	OMIM:610618
2161	F12	HP:0002013	Vomiting	-	OMIM:610618
2161	F12	HP:0011855	Pharyngeal edema	-	OMIM:610618
2161	F12	HP:0004841	Reduced factor XII activity	HP:0040281	ORPHA:330
2161	F12	HP:0004841	Reduced factor XII activity	-	OMIM:234000
2161	F12	HP:0001026	Penetrating foot ulcers	HP:0040284	ORPHA:330
2161	F12	HP:0003645	Prolonged partial thromboplastin time	-	OMIM:234000
2161	F12	HP:0003645	Prolonged partial thromboplastin time	HP:0040281	ORPHA:330
2161	F12	HP:0100665	Angioedema	-	OMIM:610618
2161	F12	HP:0200067	Recurrent spontaneous abortion	HP:0040283	ORPHA:330
2161	F12	HP:0005542	Prolonged whole-blood clotting time	-	OMIM:234000
2161	F12	HP:0001977	Abnormal thrombosis	HP:0040283	ORPHA:330
2161	F12	HP:0001907	Thromboembolism	HP:0040283	ORPHA:330
2161	F12	HP:0012636	Retinal vein occlusion	HP:0040283	ORPHA:330
2161	F12	HP:0000282	Facial edema	-	OMIM:610618
2161	F12	HP:0012271	Episodic upper airway obstruction	-	OMIM:610618
2161	F12	HP:0005225	Intestinal edema	-	OMIM:610618
2161	F12	HP:0007985	Retinal arteriolar occlusion	HP:0040283	ORPHA:330
2161	F12	HP:0001892	Abnormal bleeding	HP:0040284	ORPHA:330
2162	F13A1	HP:0007420	Spontaneous hematomas	HP:0040282	ORPHA:331
2162	F13A1	HP:0007420	Spontaneous hematomas	1/2	OMIM:613225
2162	F13A1	HP:0001399	Hepatic failure	HP:0040284	ORPHA:331
2162	F13A1	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:331
2162	F13A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613225
2162	F13A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:188050
2162	F13A1	HP:0002625	Deep venous thrombosis	-	OMIM:188050
2162	F13A1	HP:0006298	Prolonged bleeding after dental extraction	HP:0040283	ORPHA:331
2162	F13A1	HP:0000132	Menorrhagia	HP:0040283	ORPHA:331
2162	F13A1	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:331
2162	F13A1	HP:0002170	Intracranial hemorrhage	-	OMIM:613225
2162	F13A1	HP:0011889	Bleeding with minor or no trauma	HP:0040283	ORPHA:331
2162	F13A1	HP:0011884	Abnormal umbilical stump bleeding	HP:0040281	ORPHA:331
2162	F13A1	HP:0011884	Abnormal umbilical stump bleeding	2/2	OMIM:613225
2162	F13A1	HP:0011891	Post-partum hemorrhage	HP:0040283	ORPHA:331
2162	F13A1	HP:0003577	Congenital onset	-	OMIM:613225
2162	F13A1	HP:0002204	Pulmonary embolism	-	OMIM:188050
2162	F13A1	HP:0008357	Reduced factor XIII activity	HP:0040281	ORPHA:331
2162	F13A1	HP:0008357	Reduced factor XIII activity	2/2	OMIM:613225
2162	F13A1	HP:0004846	Prolonged bleeding after surgery	HP:0040283	ORPHA:331
2162	F13A1	HP:0001058	Poor wound healing	HP:0040283	ORPHA:331
2162	F13A1	HP:0200067	Recurrent spontaneous abortion	HP:0040283	ORPHA:331
2162	F13A1	HP:0003623	Neonatal onset	2/2	OMIM:613225
2162	F13A1	HP:0001933	Subcutaneous hemorrhage	HP:0040282	ORPHA:331
2162	F13A1	HP:0001934	Persistent bleeding after trauma	HP:0040283	ORPHA:331
2162	F13A1	HP:0001934	Persistent bleeding after trauma	1/2	OMIM:613225
2162	F13A1	HP:0001907	Thromboembolism	-	OMIM:188050
2162	F13A1	HP:0030657	Umbilical cord hematoma	HP:0040281	ORPHA:331
2162	F13A1	HP:0011463	Childhood onset	-	OMIM:188050
2162	F13A1	HP:0004419	Recurrent thrombophlebitis	-	OMIM:188050
2162	F13A1	HP:0040233	Factor XIII subunit A deficiency	2/2	OMIM:613225
2162	F13A1	HP:0040232	Delayed onset bleeding	HP:0040283	ORPHA:331
2162	F13A1	HP:0000978	Bruising susceptibility	2/2	OMIM:613225
2162	F13A1	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:331
2162	F13A1	HP:0012233	Intramuscular hematoma	HP:0040282	ORPHA:331
2162	F13A1	HP:0000225	Gingival bleeding	2/2	OMIM:613225
2162	F13A1	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:331
2162	F13A1	HP:0031364	Ecchymosis	HP:0040283	ORPHA:331
2162	F13A1	HP:0031364	Ecchymosis	2/2	OMIM:613225
2162	F13A1	HP:0005261	Joint hemorrhage	HP:0040282	ORPHA:331
2162	F13A1	HP:0005261	Joint hemorrhage	-	OMIM:613225
2162	F13A1	HP:0012324	Myeloid leukemia	HP:0040284	ORPHA:331
2162	F13A1	HP:0030137	Prolonged bleeding following circumcision	HP:0040283	ORPHA:331
2162	F13A1	HP:0030140	Oral cavity bleeding	HP:0040282	ORPHA:331
2162	F13A1	HP:0005305	Cerebral venous thrombosis	-	OMIM:188050
2162	F13A1	HP:0000421	Epistaxis	-	OMIM:613225
2162	F13A1	HP:0000421	Epistaxis	HP:0040283	ORPHA:331
2162	F13A1	HP:0001892	Abnormal bleeding	2/2	OMIM:613225
2165	F13B	HP:0007420	Spontaneous hematomas	HP:0040282	ORPHA:331
2165	F13B	HP:0001399	Hepatic failure	HP:0040284	ORPHA:331
2165	F13B	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:331
2165	F13B	HP:0000007	Autosomal recessive inheritance	-	OMIM:613235
2165	F13B	HP:0006298	Prolonged bleeding after dental extraction	HP:0040283	ORPHA:331
2165	F13B	HP:0000132	Menorrhagia	HP:0040283	ORPHA:331
2165	F13B	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:331
2165	F13B	HP:0011889	Bleeding with minor or no trauma	HP:0040283	ORPHA:331
2165	F13B	HP:0011884	Abnormal umbilical stump bleeding	HP:0040281	ORPHA:331
2165	F13B	HP:0011884	Abnormal umbilical stump bleeding	1/2	OMIM:613235
2165	F13B	HP:0011891	Post-partum hemorrhage	HP:0040283	ORPHA:331
2165	F13B	HP:0003577	Congenital onset	-	OMIM:613235
2165	F13B	HP:0008357	Reduced factor XIII activity	HP:0040281	ORPHA:331
2165	F13B	HP:0008357	Reduced factor XIII activity	3/3	OMIM:613235
2165	F13B	HP:0004846	Prolonged bleeding after surgery	HP:0040283	ORPHA:331
2165	F13B	HP:0004846	Prolonged bleeding after surgery	1/2	OMIM:613235
2165	F13B	HP:0001058	Poor wound healing	HP:0040283	ORPHA:331
2165	F13B	HP:0200067	Recurrent spontaneous abortion	HP:0040283	ORPHA:331
2165	F13B	HP:0001933	Subcutaneous hemorrhage	HP:0040282	ORPHA:331
2165	F13B	HP:0001934	Persistent bleeding after trauma	HP:0040283	ORPHA:331
2165	F13B	HP:0030657	Umbilical cord hematoma	HP:0040281	ORPHA:331
2165	F13B	HP:0040234	Factor XIII subunit B deficiency	2/2	OMIM:613235
2165	F13B	HP:0040232	Delayed onset bleeding	HP:0040283	ORPHA:331
2165	F13B	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:331
2165	F13B	HP:0000978	Bruising susceptibility	-	OMIM:613235
2165	F13B	HP:0012233	Intramuscular hematoma	HP:0040282	ORPHA:331
2165	F13B	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:331
2165	F13B	HP:0031364	Ecchymosis	HP:0040283	ORPHA:331
2165	F13B	HP:0031364	Ecchymosis	-	OMIM:613235
2165	F13B	HP:0005261	Joint hemorrhage	HP:0040282	ORPHA:331
2165	F13B	HP:0012324	Myeloid leukemia	HP:0040284	ORPHA:331
2165	F13B	HP:0030137	Prolonged bleeding following circumcision	HP:0040283	ORPHA:331
2165	F13B	HP:0030140	Oral cavity bleeding	HP:0040282	ORPHA:331
2165	F13B	HP:0000421	Epistaxis	HP:0040283	ORPHA:331
2165	F13B	HP:0001892	Abnormal bleeding	1/1	OMIM:613235
2175	FANCA	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
2175	FANCA	HP:0009943	Complete duplication of thumb phalanx	-	OMIM:227650
2175	FANCA	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
2175	FANCA	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
2175	FANCA	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
2175	FANCA	HP:0001249	Intellectual disability	-	OMIM:227650
2175	FANCA	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
2175	FANCA	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
2175	FANCA	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
2175	FANCA	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
2175	FANCA	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
2175	FANCA	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
2175	FANCA	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
2175	FANCA	HP:0000086	Ectopic kidney	-	OMIM:227650
2175	FANCA	HP:0000085	Horseshoe kidney	-	OMIM:227650
2175	FANCA	HP:0000081	Duplicated collecting system	-	OMIM:227650
2175	FANCA	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
2175	FANCA	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
2175	FANCA	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
2175	FANCA	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
2175	FANCA	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
2175	FANCA	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
2175	FANCA	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
2175	FANCA	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
2175	FANCA	HP:0000028	Cryptorchidism	-	OMIM:227650
2175	FANCA	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
2175	FANCA	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
2175	FANCA	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
2175	FANCA	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
2175	FANCA	HP:0000007	Autosomal recessive inheritance	-	OMIM:227650
2175	FANCA	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
2175	FANCA	HP:0003974	Absent radius	-	OMIM:227650
2175	FANCA	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
2175	FANCA	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
2175	FANCA	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
2175	FANCA	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
2175	FANCA	HP:0000104	Renal agenesis	-	OMIM:227650
2175	FANCA	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
2175	FANCA	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
2175	FANCA	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
2175	FANCA	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
2175	FANCA	HP:0010469	Absent testis	HP:0040283	ORPHA:84
2175	FANCA	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
2175	FANCA	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
2175	FANCA	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
2175	FANCA	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
2175	FANCA	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
2175	FANCA	HP:0001017	Anemic pallor	-	OMIM:227650
2175	FANCA	HP:0001000	Abnormality of skin pigmentation	-	OMIM:227650
2175	FANCA	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
2175	FANCA	HP:0009777	Absent thumb	-	OMIM:227650
2175	FANCA	HP:0009778	Short thumb	-	OMIM:227650
2175	FANCA	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
2175	FANCA	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
2175	FANCA	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
2175	FANCA	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
2175	FANCA	HP:0001909	Leukemia	-	OMIM:227650
2175	FANCA	HP:0001903	Anemia	-	OMIM:227650
2175	FANCA	HP:0001903	Anemia	HP:0040281	ORPHA:84
2175	FANCA	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
2175	FANCA	HP:0004322	Short stature	HP:0040281	ORPHA:84
2175	FANCA	HP:0004322	Short stature	-	OMIM:227650
2175	FANCA	HP:0030680	Abnormal cardiovascular system morphology	-	OMIM:227650
2175	FANCA	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
2175	FANCA	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
2175	FANCA	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
2175	FANCA	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
2175	FANCA	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
2175	FANCA	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:227650
2175	FANCA	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
2175	FANCA	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
2175	FANCA	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
2175	FANCA	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	-	OMIM:227650
2175	FANCA	HP:0003214	Prolonged G2 phase of cell cycle	-	OMIM:227650
2175	FANCA	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
2175	FANCA	HP:0003221	Chromosomal breakage induced by crosslinking agents	-	OMIM:227650
2175	FANCA	HP:0003251	Male infertility	HP:0040284	OMIM:227650
2175	FANCA	HP:0000978	Bruising susceptibility	-	OMIM:227650
2175	FANCA	HP:0000957	Cafe-au-lait spot	-	OMIM:227650
2175	FANCA	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
2175	FANCA	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
2175	FANCA	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
2175	FANCA	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
2175	FANCA	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
2175	FANCA	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
2175	FANCA	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
2175	FANCA	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
2175	FANCA	HP:0000252	Microcephaly	-	OMIM:227650
2175	FANCA	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
2175	FANCA	HP:0012210	Abnormal renal morphology	-	OMIM:227650
2175	FANCA	HP:0000218	High palate	HP:0040283	ORPHA:84
2175	FANCA	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
2175	FANCA	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
2175	FANCA	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
2175	FANCA	HP:0001518	Small for gestational age	-	OMIM:227650
2175	FANCA	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
2175	FANCA	HP:0001510	Growth delay	HP:0040283	ORPHA:84
2175	FANCA	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
2175	FANCA	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
2175	FANCA	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
2175	FANCA	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
2175	FANCA	HP:0000365	Hearing impairment	-	OMIM:227650
2175	FANCA	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
2175	FANCA	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
2175	FANCA	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
2175	FANCA	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
2175	FANCA	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
2175	FANCA	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
2175	FANCA	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
2175	FANCA	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
2175	FANCA	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
2175	FANCA	HP:0001627	Abnormal heart morphology	-	OMIM:227650
2175	FANCA	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
2175	FANCA	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
2175	FANCA	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
2175	FANCA	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
2175	FANCA	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
2175	FANCA	HP:0000486	Strabismus	HP:0040283	ORPHA:84
2175	FANCA	HP:0000486	Strabismus	-	OMIM:227650
2175	FANCA	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
2175	FANCA	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
2175	FANCA	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
2175	FANCA	HP:0001763	Pes planus	HP:0040283	ORPHA:84
2175	FANCA	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
2175	FANCA	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
2175	FANCA	HP:0000518	Cataract	HP:0040283	ORPHA:84
2175	FANCA	HP:0000520	Proptosis	HP:0040283	ORPHA:84
2175	FANCA	HP:0001824	Weight loss	HP:0040283	ORPHA:84
2175	FANCA	HP:0000508	Ptosis	HP:0040283	ORPHA:84
2175	FANCA	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
2175	FANCA	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
2175	FANCA	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
2175	FANCA	HP:0000568	Microphthalmia	-	OMIM:227650
2175	FANCA	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
2175	FANCA	HP:0001896	Reticulocytopenia	-	OMIM:227650
2175	FANCA	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
2175	FANCA	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
2175	FANCA	HP:0001873	Thrombocytopenia	-	OMIM:227650
2175	FANCA	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
2175	FANCA	HP:0001876	Pancytopenia	-	OMIM:227650
2175	FANCA	HP:0001875	Decreased total neutrophil count	-	OMIM:227650
2176	FANCC	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
2176	FANCC	HP:0009942	Duplication of thumb phalanx	0/2	OMIM:227645
2176	FANCC	HP:0009943	Complete duplication of thumb phalanx	-	OMIM:227645
2176	FANCC	HP:0009943	Complete duplication of thumb phalanx	-	OMIM:227650
2176	FANCC	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
2176	FANCC	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
2176	FANCC	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
2176	FANCC	HP:0001249	Intellectual disability	-	OMIM:227650
2176	FANCC	HP:0001249	Intellectual disability	-	OMIM:227645
2176	FANCC	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
2176	FANCC	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
2176	FANCC	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
2176	FANCC	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
2176	FANCC	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
2176	FANCC	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
2176	FANCC	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
2176	FANCC	HP:0000086	Ectopic kidney	-	OMIM:227650
2176	FANCC	HP:0000086	Ectopic kidney	-	OMIM:227645
2176	FANCC	HP:0000085	Horseshoe kidney	-	OMIM:227650
2176	FANCC	HP:0000085	Horseshoe kidney	-	OMIM:227645
2176	FANCC	HP:0000081	Duplicated collecting system	-	OMIM:227645
2176	FANCC	HP:0000081	Duplicated collecting system	-	OMIM:227650
2176	FANCC	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
2176	FANCC	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
2176	FANCC	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
2176	FANCC	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
2176	FANCC	HP:0001371	Flexion contracture	1/1	OMIM:227645
2176	FANCC	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
2176	FANCC	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
2176	FANCC	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
2176	FANCC	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
2176	FANCC	HP:0000028	Cryptorchidism	-	OMIM:227650
2176	FANCC	HP:0000028	Cryptorchidism	-	OMIM:227645
2176	FANCC	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
2176	FANCC	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
2176	FANCC	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
2176	FANCC	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
2176	FANCC	HP:0000007	Autosomal recessive inheritance	-	OMIM:227650
2176	FANCC	HP:0000007	Autosomal recessive inheritance	-	OMIM:227645
2176	FANCC	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
2176	FANCC	HP:0003974	Absent radius	1/3	OMIM:227645
2176	FANCC	HP:0003974	Absent radius	-	OMIM:227650
2176	FANCC	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
2176	FANCC	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
2176	FANCC	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
2176	FANCC	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
2176	FANCC	HP:0000104	Renal agenesis	-	OMIM:227650
2176	FANCC	HP:0000104	Renal agenesis	-	OMIM:227645
2176	FANCC	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
2176	FANCC	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
2176	FANCC	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
2176	FANCC	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
2176	FANCC	HP:0010469	Absent testis	HP:0040283	ORPHA:84
2176	FANCC	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
2176	FANCC	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
2176	FANCC	HP:0003577	Congenital onset	3/3	OMIM:227645
2176	FANCC	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
2176	FANCC	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
2176	FANCC	HP:0011940	Anterior wedging of T12	1/1	OMIM:227645
2176	FANCC	HP:0020073	Hypopigmented macule	1/1	OMIM:227645
2176	FANCC	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
2176	FANCC	HP:0001017	Anemic pallor	-	OMIM:227645
2176	FANCC	HP:0001017	Anemic pallor	-	OMIM:227650
2176	FANCC	HP:0001000	Abnormality of skin pigmentation	-	OMIM:227650
2176	FANCC	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
2176	FANCC	HP:0009777	Absent thumb	2/4	OMIM:227645
2176	FANCC	HP:0009777	Absent thumb	-	OMIM:227650
2176	FANCC	HP:0009778	Short thumb	-	OMIM:227650
2176	FANCC	HP:0009778	Short thumb	0/2	OMIM:227645
2176	FANCC	HP:0005528	Bone marrow hypocellularity	2/2	OMIM:227645
2176	FANCC	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
2176	FANCC	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
2176	FANCC	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
2176	FANCC	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
2176	FANCC	HP:0001909	Leukemia	0/2	OMIM:227645
2176	FANCC	HP:0001909	Leukemia	-	OMIM:227650
2176	FANCC	HP:0001903	Anemia	-	OMIM:227650
2176	FANCC	HP:0001903	Anemia	3/3	OMIM:227645
2176	FANCC	HP:0001903	Anemia	HP:0040281	ORPHA:84
2176	FANCC	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
2176	FANCC	HP:0004322	Short stature	HP:0040281	ORPHA:84
2176	FANCC	HP:0004322	Short stature	-	OMIM:227650
2176	FANCC	HP:0004322	Short stature	3/4	OMIM:227645
2176	FANCC	HP:0030680	Abnormal cardiovascular system morphology	-	OMIM:227650
2176	FANCC	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
2176	FANCC	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
2176	FANCC	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
2176	FANCC	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
2176	FANCC	HP:0011463	Childhood onset	1/1	OMIM:227645
2176	FANCC	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
2176	FANCC	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:227650
2176	FANCC	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:227645
2176	FANCC	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
2176	FANCC	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
2176	FANCC	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
2176	FANCC	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	-	OMIM:227645
2176	FANCC	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	-	OMIM:227650
2176	FANCC	HP:0003214	Prolonged G2 phase of cell cycle	-	OMIM:227645
2176	FANCC	HP:0003214	Prolonged G2 phase of cell cycle	-	OMIM:227650
2176	FANCC	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
2176	FANCC	HP:0003221	Chromosomal breakage induced by crosslinking agents	4/4	OMIM:227645
2176	FANCC	HP:0003221	Chromosomal breakage induced by crosslinking agents	-	OMIM:227650
2176	FANCC	HP:0003251	Male infertility	HP:0040284	OMIM:227650
2176	FANCC	HP:0000978	Bruising susceptibility	-	OMIM:227650
2176	FANCC	HP:0000978	Bruising susceptibility	-	OMIM:227645
2176	FANCC	HP:0000957	Cafe-au-lait spot	-	OMIM:227650
2176	FANCC	HP:0000957	Cafe-au-lait spot	3/3	OMIM:227645
2176	FANCC	HP:0000953	Hyperpigmentation of the skin	1/1	OMIM:227645
2176	FANCC	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
2176	FANCC	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
2176	FANCC	HP:0000286	Epicanthus	1/1	OMIM:227645
2176	FANCC	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
2176	FANCC	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
2176	FANCC	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
2176	FANCC	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
2176	FANCC	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
2176	FANCC	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
2176	FANCC	HP:0000252	Microcephaly	-	OMIM:227650
2176	FANCC	HP:0000252	Microcephaly	-	OMIM:227645
2176	FANCC	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
2176	FANCC	HP:0012210	Abnormal renal morphology	-	OMIM:227650
2176	FANCC	HP:0000218	High palate	HP:0040283	ORPHA:84
2176	FANCC	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
2176	FANCC	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
2176	FANCC	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
2176	FANCC	HP:0001518	Small for gestational age	-	OMIM:227650
2176	FANCC	HP:0001518	Small for gestational age	-	OMIM:227645
2176	FANCC	HP:0001511	Intrauterine growth retardation	2/2	OMIM:227645
2176	FANCC	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
2176	FANCC	HP:0001510	Growth delay	HP:0040283	ORPHA:84
2176	FANCC	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
2176	FANCC	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
2176	FANCC	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
2176	FANCC	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
2176	FANCC	HP:0000365	Hearing impairment	-	OMIM:227650
2176	FANCC	HP:0000365	Hearing impairment	-	OMIM:227645
2176	FANCC	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
2176	FANCC	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
2176	FANCC	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
2176	FANCC	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
2176	FANCC	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
2176	FANCC	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
2176	FANCC	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
2176	FANCC	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
2176	FANCC	HP:0000325	Triangular face	1/1	OMIM:227645
2176	FANCC	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
2176	FANCC	HP:0001629	Ventricular septal defect	1/1	OMIM:227645
2176	FANCC	HP:0001627	Abnormal heart morphology	-	OMIM:227650
2176	FANCC	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
2176	FANCC	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
2176	FANCC	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
2176	FANCC	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
2176	FANCC	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
2176	FANCC	HP:0000486	Strabismus	HP:0040283	ORPHA:84
2176	FANCC	HP:0000486	Strabismus	-	OMIM:227650
2176	FANCC	HP:0000486	Strabismus	-	OMIM:227645
2176	FANCC	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
2176	FANCC	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
2176	FANCC	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
2176	FANCC	HP:0001763	Pes planus	HP:0040283	ORPHA:84
2176	FANCC	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
2176	FANCC	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
2176	FANCC	HP:0000518	Cataract	HP:0040283	ORPHA:84
2176	FANCC	HP:0000520	Proptosis	HP:0040283	ORPHA:84
2176	FANCC	HP:0001824	Weight loss	HP:0040283	ORPHA:84
2176	FANCC	HP:0000508	Ptosis	HP:0040283	ORPHA:84
2176	FANCC	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
2176	FANCC	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
2176	FANCC	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
2176	FANCC	HP:0000568	Microphthalmia	-	OMIM:227650
2176	FANCC	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
2176	FANCC	HP:0000568	Microphthalmia	-	OMIM:227645
2176	FANCC	HP:0001896	Reticulocytopenia	-	OMIM:227645
2176	FANCC	HP:0001896	Reticulocytopenia	-	OMIM:227650
2176	FANCC	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
2176	FANCC	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
2176	FANCC	HP:0001873	Thrombocytopenia	-	OMIM:227650
2176	FANCC	HP:0001873	Thrombocytopenia	11/11	OMIM:227645
2176	FANCC	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
2176	FANCC	HP:0001876	Pancytopenia	-	OMIM:227650
2176	FANCC	HP:0001876	Pancytopenia	3/3	OMIM:227645
2176	FANCC	HP:0001875	Decreased total neutrophil count	-	OMIM:227650
2176	FANCC	HP:0001875	Decreased total neutrophil count	11/11	OMIM:227645
2177	FANCD2	HP:0001177	Preaxial hand polydactyly	3/29	OMIM:227646
2177	FANCD2	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
2177	FANCD2	HP:0009944	Partial duplication of thumb phalanx	1/29	OMIM:227646
2177	FANCD2	HP:0009943	Complete duplication of thumb phalanx	-	OMIM:227646
2177	FANCD2	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
2177	FANCD2	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
2177	FANCD2	HP:0001274	Agenesis of corpus callosum	2/29	OMIM:227646
2177	FANCD2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
2177	FANCD2	HP:0001249	Intellectual disability	9/29	OMIM:227646
2177	FANCD2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
2177	FANCD2	HP:0002575	Tracheoesophageal fistula	1/29	OMIM:227646
2177	FANCD2	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
2177	FANCD2	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
2177	FANCD2	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
2177	FANCD2	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
2177	FANCD2	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000086	Ectopic kidney	1/29	OMIM:227646
2177	FANCD2	HP:0000085	Horseshoe kidney	1/29	OMIM:227646
2177	FANCD2	HP:0000081	Duplicated collecting system	-	OMIM:227646
2177	FANCD2	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
2177	FANCD2	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000075	Renal duplication	1/29	OMIM:227646
2177	FANCD2	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000054	Micropenis	2/17	OMIM:227646
2177	FANCD2	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
2177	FANCD2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000028	Cryptorchidism	-	OMIM:227646
2177	FANCD2	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
2177	FANCD2	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
2177	FANCD2	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
2177	FANCD2	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:227646
2177	FANCD2	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
2177	FANCD2	HP:0003974	Absent radius	3/29	OMIM:227646
2177	FANCD2	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
2177	FANCD2	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000125	Pelvic kidney	4/29	OMIM:227646
2177	FANCD2	HP:0000104	Renal agenesis	-	OMIM:227646
2177	FANCD2	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
2177	FANCD2	HP:0002032	Esophageal atresia	1/29	OMIM:227646
2177	FANCD2	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
2177	FANCD2	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
2177	FANCD2	HP:0002079	Hypoplasia of the corpus callosum	4/29	OMIM:227646
2177	FANCD2	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
2177	FANCD2	HP:0010469	Absent testis	HP:0040283	ORPHA:84
2177	FANCD2	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
2177	FANCD2	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
2177	FANCD2	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
2177	FANCD2	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
2177	FANCD2	HP:0007018	Attention deficit hyperactivity disorder	3/29	OMIM:227646
2177	FANCD2	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
2177	FANCD2	HP:0001017	Anemic pallor	-	OMIM:227646
2177	FANCD2	HP:0001000	Abnormality of skin pigmentation	19/29	OMIM:227646
2177	FANCD2	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
2177	FANCD2	HP:0009777	Absent thumb	3/29	OMIM:227646
2177	FANCD2	HP:0009778	Short thumb	9/29	OMIM:227646
2177	FANCD2	HP:0005528	Bone marrow hypocellularity	25/28	OMIM:227646
2177	FANCD2	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
2177	FANCD2	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
2177	FANCD2	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000601	Hypotelorism	2/29	OMIM:227646
2177	FANCD2	HP:0001909	Leukemia	-	OMIM:227646
2177	FANCD2	HP:0001903	Anemia	-	OMIM:227646
2177	FANCD2	HP:0001903	Anemia	HP:0040281	ORPHA:84
2177	FANCD2	HP:0010035	Aplasia of the 1st metacarpal	2/29	OMIM:227646
2177	FANCD2	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
2177	FANCD2	HP:0004322	Short stature	HP:0040281	ORPHA:84
2177	FANCD2	HP:0004322	Short stature	-	OMIM:227646
2177	FANCD2	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
2177	FANCD2	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
2177	FANCD2	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
2177	FANCD2	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000815	Hypergonadotropic hypogonadism	1/29	OMIM:227646
2177	FANCD2	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
2177	FANCD2	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
2177	FANCD2	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
2177	FANCD2	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	-	OMIM:227646
2177	FANCD2	HP:0003214	Prolonged G2 phase of cell cycle	-	OMIM:227646
2177	FANCD2	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
2177	FANCD2	HP:0003221	Chromosomal breakage induced by crosslinking agents	-	OMIM:227646
2177	FANCD2	HP:0000978	Bruising susceptibility	-	OMIM:227646
2177	FANCD2	HP:0000957	Cafe-au-lait spot	2/29	OMIM:227646
2177	FANCD2	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
2177	FANCD2	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
2177	FANCD2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
2177	FANCD2	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000238	Hydrocephalus	4/29	OMIM:227646
2177	FANCD2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
2177	FANCD2	HP:0000252	Microcephaly	25/28	OMIM:227646
2177	FANCD2	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
2177	FANCD2	HP:0000218	High palate	HP:0040283	ORPHA:84
2177	FANCD2	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
2177	FANCD2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
2177	FANCD2	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
2177	FANCD2	HP:0001518	Small for gestational age	24/29	OMIM:227646
2177	FANCD2	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
2177	FANCD2	HP:0001510	Growth delay	HP:0040283	ORPHA:84
2177	FANCD2	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
2177	FANCD2	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
2177	FANCD2	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
2177	FANCD2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000365	Hearing impairment	1/29	OMIM:227646
2177	FANCD2	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000369	Low-set ears	3/29	OMIM:227646
2177	FANCD2	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
2177	FANCD2	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
2177	FANCD2	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000316	Hypertelorism	1/29	OMIM:227646
2177	FANCD2	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
2177	FANCD2	HP:0001643	Patent ductus arteriosus	4/29	OMIM:227646
2177	FANCD2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
2177	FANCD2	HP:0001627	Abnormal heart morphology	-	OMIM:227646
2177	FANCD2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
2177	FANCD2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
2177	FANCD2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
2177	FANCD2	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
2177	FANCD2	HP:0001734	Annular pancreas	1/29	OMIM:227646
2177	FANCD2	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000486	Strabismus	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000486	Strabismus	1/29	OMIM:227646
2177	FANCD2	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
2177	FANCD2	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
2177	FANCD2	HP:0001763	Pes planus	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
2177	FANCD2	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000518	Cataract	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000520	Proptosis	HP:0040283	ORPHA:84
2177	FANCD2	HP:0001824	Weight loss	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000508	Ptosis	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000581	Blepharophimosis	1/29	OMIM:227646
2177	FANCD2	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
2177	FANCD2	HP:0000568	Microphthalmia	17/28	OMIM:227646
2177	FANCD2	HP:0001896	Reticulocytopenia	-	OMIM:227646
2177	FANCD2	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
2177	FANCD2	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
2177	FANCD2	HP:0001873	Thrombocytopenia	-	OMIM:227646
2177	FANCD2	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
2177	FANCD2	HP:0001876	Pancytopenia	-	OMIM:227646
2177	FANCD2	HP:0001875	Decreased total neutrophil count	-	OMIM:227646
2178	FANCE	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
2178	FANCE	HP:0009943	Complete duplication of thumb phalanx	-	OMIM:600901
2178	FANCE	HP:0009943	Complete duplication of thumb phalanx	-	OMIM:227650
2178	FANCE	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
2178	FANCE	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
2178	FANCE	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
2178	FANCE	HP:0001249	Intellectual disability	-	OMIM:600901
2178	FANCE	HP:0001249	Intellectual disability	-	OMIM:227650
2178	FANCE	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
2178	FANCE	HP:0001263	Global developmental delay	20/20	OMIM:600901
2178	FANCE	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
2178	FANCE	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
2178	FANCE	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
2178	FANCE	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
2178	FANCE	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
2178	FANCE	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
2178	FANCE	HP:0000086	Ectopic kidney	-	OMIM:227650
2178	FANCE	HP:0000086	Ectopic kidney	-	OMIM:600901
2178	FANCE	HP:0000085	Horseshoe kidney	-	OMIM:227650
2178	FANCE	HP:0000085	Horseshoe kidney	-	OMIM:600901
2178	FANCE	HP:0000081	Duplicated collecting system	-	OMIM:600901
2178	FANCE	HP:0000081	Duplicated collecting system	-	OMIM:227650
2178	FANCE	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
2178	FANCE	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
2178	FANCE	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
2178	FANCE	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
2178	FANCE	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
2178	FANCE	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
2178	FANCE	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
2178	FANCE	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
2178	FANCE	HP:0000028	Cryptorchidism	-	OMIM:227650
2178	FANCE	HP:0000028	Cryptorchidism	-	OMIM:600901
2178	FANCE	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
2178	FANCE	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
2178	FANCE	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
2178	FANCE	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
2178	FANCE	HP:0000007	Autosomal recessive inheritance	-	OMIM:600901
2178	FANCE	HP:0000007	Autosomal recessive inheritance	-	OMIM:227650
2178	FANCE	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
2178	FANCE	HP:0003974	Absent radius	-	OMIM:600901
2178	FANCE	HP:0003974	Absent radius	-	OMIM:227650
2178	FANCE	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
2178	FANCE	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
2178	FANCE	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
2178	FANCE	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
2178	FANCE	HP:0000104	Renal agenesis	-	OMIM:227650
2178	FANCE	HP:0000104	Renal agenesis	-	OMIM:600901
2178	FANCE	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
2178	FANCE	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
2178	FANCE	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
2178	FANCE	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
2178	FANCE	HP:0010469	Absent testis	HP:0040283	ORPHA:84
2178	FANCE	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
2178	FANCE	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
2178	FANCE	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
2178	FANCE	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
2178	FANCE	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
2178	FANCE	HP:0001017	Anemic pallor	-	OMIM:600901
2178	FANCE	HP:0001017	Anemic pallor	-	OMIM:227650
2178	FANCE	HP:0001000	Abnormality of skin pigmentation	-	OMIM:227650
2178	FANCE	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
2178	FANCE	HP:0009777	Absent thumb	-	OMIM:600901
2178	FANCE	HP:0009777	Absent thumb	-	OMIM:227650
2178	FANCE	HP:0009778	Short thumb	-	OMIM:227650
2178	FANCE	HP:0009778	Short thumb	-	OMIM:600901
2178	FANCE	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
2178	FANCE	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
2178	FANCE	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
2178	FANCE	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
2178	FANCE	HP:0001909	Leukemia	-	OMIM:600901
2178	FANCE	HP:0001909	Leukemia	-	OMIM:227650
2178	FANCE	HP:0001903	Anemia	-	OMIM:227650
2178	FANCE	HP:0001903	Anemia	HP:0040281	ORPHA:84
2178	FANCE	HP:0001903	Anemia	-	OMIM:600901
2178	FANCE	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
2178	FANCE	HP:0004322	Short stature	HP:0040281	ORPHA:84
2178	FANCE	HP:0004322	Short stature	-	OMIM:600901
2178	FANCE	HP:0004322	Short stature	-	OMIM:227650
2178	FANCE	HP:0030680	Abnormal cardiovascular system morphology	-	OMIM:227650
2178	FANCE	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
2178	FANCE	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
2178	FANCE	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
2178	FANCE	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
2178	FANCE	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
2178	FANCE	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:227650
2178	FANCE	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:600901
2178	FANCE	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
2178	FANCE	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
2178	FANCE	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
2178	FANCE	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	-	OMIM:600901
2178	FANCE	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	-	OMIM:227650
2178	FANCE	HP:0003214	Prolonged G2 phase of cell cycle	-	OMIM:600901
2178	FANCE	HP:0003214	Prolonged G2 phase of cell cycle	-	OMIM:227650
2178	FANCE	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
2178	FANCE	HP:0003221	Chromosomal breakage induced by crosslinking agents	-	OMIM:600901
2178	FANCE	HP:0003221	Chromosomal breakage induced by crosslinking agents	-	OMIM:227650
2178	FANCE	HP:0003251	Male infertility	HP:0040284	OMIM:227650
2178	FANCE	HP:0000978	Bruising susceptibility	-	OMIM:227650
2178	FANCE	HP:0000978	Bruising susceptibility	-	OMIM:600901
2178	FANCE	HP:0000957	Cafe-au-lait spot	-	OMIM:227650
2178	FANCE	HP:0000957	Cafe-au-lait spot	-	OMIM:600901
2178	FANCE	HP:0000953	Hyperpigmentation of the skin	-	OMIM:600901
2178	FANCE	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
2178	FANCE	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
2178	FANCE	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
2178	FANCE	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
2178	FANCE	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
2178	FANCE	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
2178	FANCE	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
2178	FANCE	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
2178	FANCE	HP:0000252	Microcephaly	-	OMIM:600901
2178	FANCE	HP:0000252	Microcephaly	-	OMIM:227650
2178	FANCE	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
2178	FANCE	HP:0012210	Abnormal renal morphology	-	OMIM:227650
2178	FANCE	HP:0000218	High palate	HP:0040283	ORPHA:84
2178	FANCE	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
2178	FANCE	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
2178	FANCE	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
2178	FANCE	HP:0001518	Small for gestational age	-	OMIM:227650
2178	FANCE	HP:0001518	Small for gestational age	-	OMIM:600901
2178	FANCE	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
2178	FANCE	HP:0001510	Growth delay	HP:0040283	ORPHA:84
2178	FANCE	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
2178	FANCE	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
2178	FANCE	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
2178	FANCE	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
2178	FANCE	HP:0000365	Hearing impairment	-	OMIM:227650
2178	FANCE	HP:0000365	Hearing impairment	-	OMIM:600901
2178	FANCE	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
2178	FANCE	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
2178	FANCE	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
2178	FANCE	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
2178	FANCE	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
2178	FANCE	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
2178	FANCE	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
2178	FANCE	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
2178	FANCE	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
2178	FANCE	HP:0001627	Abnormal heart morphology	-	OMIM:227650
2178	FANCE	HP:0001627	Abnormal heart morphology	-	OMIM:600901
2178	FANCE	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
2178	FANCE	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
2178	FANCE	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
2178	FANCE	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
2178	FANCE	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
2178	FANCE	HP:0000486	Strabismus	HP:0040283	ORPHA:84
2178	FANCE	HP:0000486	Strabismus	-	OMIM:227650
2178	FANCE	HP:0000486	Strabismus	-	OMIM:600901
2178	FANCE	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
2178	FANCE	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
2178	FANCE	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
2178	FANCE	HP:0001763	Pes planus	HP:0040283	ORPHA:84
2178	FANCE	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
2178	FANCE	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
2178	FANCE	HP:0000518	Cataract	HP:0040283	ORPHA:84
2178	FANCE	HP:0000520	Proptosis	HP:0040283	ORPHA:84
2178	FANCE	HP:0001824	Weight loss	HP:0040283	ORPHA:84
2178	FANCE	HP:0000508	Ptosis	HP:0040283	ORPHA:84
2178	FANCE	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
2178	FANCE	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
2178	FANCE	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
2178	FANCE	HP:0000568	Microphthalmia	-	OMIM:227650
2178	FANCE	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
2178	FANCE	HP:0000568	Microphthalmia	-	OMIM:600901
2178	FANCE	HP:0001896	Reticulocytopenia	-	OMIM:600901
2178	FANCE	HP:0001896	Reticulocytopenia	-	OMIM:227650
2178	FANCE	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
2178	FANCE	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
2178	FANCE	HP:0001873	Thrombocytopenia	-	OMIM:227650
2178	FANCE	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
2178	FANCE	HP:0001873	Thrombocytopenia	-	OMIM:600901
2178	FANCE	HP:0001876	Pancytopenia	-	OMIM:227650
2178	FANCE	HP:0001876	Pancytopenia	-	OMIM:600901
2178	FANCE	HP:0001875	Decreased total neutrophil count	-	OMIM:227650
2178	FANCE	HP:0001875	Decreased total neutrophil count	-	OMIM:600901
2182	ACSL4	HP:0001182	Tapered finger	HP:0040282	ORPHA:86818
2182	ACSL4	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:86818
2182	ACSL4	HP:0100820	Glomerulopathy	HP:0040281	ORPHA:86818
2182	ACSL4	HP:0001252	Hypotonia	2/8	OMIM:300387
2182	ACSL4	HP:0001252	Hypotonia	HP:0040282	ORPHA:86818
2182	ACSL4	HP:0001249	Intellectual disability	4/4	OMIM:300387
2182	ACSL4	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:86818
2182	ACSL4	HP:0000093	Proteinuria	HP:0040281	ORPHA:86818
2182	ACSL4	HP:0001347	Hyperreflexia	4/8	OMIM:300387
2182	ACSL4	HP:0001423	X-linked dominant inheritance	-	OMIM:300387
2182	ACSL4	HP:0000739	Anxiety	2/8	OMIM:300387
2182	ACSL4	HP:0000750	Delayed speech and language development	6/8	OMIM:300387
2182	ACSL4	HP:0000729	Autistic behavior	1/4	OMIM:300387
2182	ACSL4	HP:0011463	Childhood onset	-	OMIM:300387
2182	ACSL4	HP:0004445	Elliptocytosis	HP:0040282	ORPHA:86818
2182	ACSL4	HP:0000944	Abnormal metaphysis morphology	HP:0040283	ORPHA:86818
2182	ACSL4	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:86818
2182	ACSL4	HP:0000272	Malar flattening	HP:0040281	ORPHA:86818
2182	ACSL4	HP:0000252	Microcephaly	1/8	OMIM:300387
2182	ACSL4	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:86818
2182	ACSL4	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:86818
2182	ACSL4	HP:0002907	Microscopic hematuria	HP:0040281	ORPHA:86818
2182	ACSL4	HP:0000365	Hearing impairment	HP:0040282	ORPHA:86818
2182	ACSL4	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:86818
2182	ACSL4	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:86818
2182	ACSL4	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:86818
2182	ACSL4	HP:0000486	Strabismus	HP:0040283	ORPHA:86818
2182	ACSL4	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:86818
2182	ACSL4	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:86818
2182	ACSL4	HP:0000463	Anteverted nares	HP:0040281	ORPHA:86818
2182	ACSL4	HP:0000545	Myopia	HP:0040283	ORPHA:86818
2184	FAH	HP:0003768	Periodic paralysis	-	OMIM:276700
2184	FAH	HP:6000598	Elevated urinary succinylacetone level	-	OMIM:276700
2184	FAH	HP:0002590	Paralytic ileus	-	OMIM:276700
2184	FAH	HP:0002572	Episodic vomiting	7/18	OMIM:276700
2184	FAH	HP:0000083	Renal insufficiency	-	OMIM:276700
2184	FAH	HP:0000096	Glomerular sclerosis	-	OMIM:276700
2184	FAH	HP:0001399	Hepatic failure	18/18	OMIM:276700
2184	FAH	HP:0001394	Cirrhosis	-	OMIM:276700
2184	FAH	HP:6000775	Elevated urinary 4-tyramine level	-	OMIM:276700
2184	FAH	HP:0000007	Autosomal recessive inheritance	-	OMIM:276700
2184	FAH	HP:6000827	Diminished tissue fumarylacetoacetate hydrolase activity	9/9	OMIM:276700
2184	FAH	HP:0006254	Elevated circulating alpha-fetoprotein concentration	-	OMIM:276700
2184	FAH	HP:0000121	Nephrocalcinosis	-	OMIM:276700
2184	FAH	HP:0000105	Enlarged kidney	10/17	OMIM:276700
2184	FAH	HP:0001402	Hepatocellular carcinoma	-	OMIM:276700
2184	FAH	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:882
2184	FAH	HP:0008151	Prolonged prothrombin time	-	OMIM:276700
2184	FAH	HP:0002240	Hepatomegaly	10/17	OMIM:276700
2184	FAH	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:882
2184	FAH	HP:0002239	Gastrointestinal hemorrhage	-	OMIM:276700
2184	FAH	HP:0002249	Melena	5/18	OMIM:276700
2184	FAH	HP:0003645	Prolonged partial thromboplastin time	-	OMIM:276700
2184	FAH	HP:0004912	Hypophosphatemic rickets	-	OMIM:276700
2184	FAH	HP:0001943	Hypoglycemia	9/18	OMIM:276700
2184	FAH	HP:0001945	Fever	9/18	OMIM:276700
2184	FAH	HP:0001942	Metabolic acidosis	12/18	OMIM:276700
2184	FAH	HP:0001903	Anemia	8/18	OMIM:276700
2184	FAH	HP:0001994	Renal Fanconi syndrome	-	OMIM:276700
2184	FAH	HP:0006949	Episodic peripheral neuropathy	-	OMIM:276700
2184	FAH	HP:0003163	Elevated urinary delta-aminolevulinic acid	-	OMIM:276700
2184	FAH	HP:0003235	Hypermethioninemia	-	OMIM:276700
2184	FAH	HP:0003231	Hypertyrosinemia	-	OMIM:276700
2184	FAH	HP:0004510	Pancreatic islet-cell hyperplasia	-	OMIM:276700
2184	FAH	HP:0006463	Rickets of the lower limbs	HP:0040283	ORPHA:882
2184	FAH	HP:0001541	Ascites	9/18	OMIM:276700
2184	FAH	HP:0001508	Failure to thrive	-	OMIM:276700
2184	FAH	HP:0001510	Growth delay	12/18	OMIM:276700
2184	FAH	HP:0006554	Acute hepatic failure	-	OMIM:276700
2184	FAH	HP:0006554	Acute hepatic failure	HP:0040283	ORPHA:882
2184	FAH	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:276700
2184	FAH	HP:0002909	Generalized aminoaciduria	HP:0040281	ORPHA:882
2184	FAH	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:276700
2184	FAH	HP:0001744	Splenomegaly	6/17	OMIM:276700
2184	FAH	HP:0001744	Splenomegaly	HP:0040283	ORPHA:882
2186	BPTF	HP:0008607	Progressive conductive hearing impairment	HP:0040282	ORPHA:529962
2186	BPTF	HP:0008551	Microtia	HP:0040282	ORPHA:529962
2186	BPTF	HP:0001290	Generalized hypotonia	5/10	OMIM:617755
2186	BPTF	HP:0001270	Motor delay	8/10	OMIM:617755
2186	BPTF	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:529962
2186	BPTF	HP:0001250	Seizure	HP:0040282	ORPHA:529962
2186	BPTF	HP:0001249	Intellectual disability	-	OMIM:617755
2186	BPTF	HP:0001263	Global developmental delay	10/10	OMIM:617755
2186	BPTF	HP:0001238	Slender finger	1/10	OMIM:617755
2186	BPTF	HP:0002500	Abnormal cerebral white matter morphology	3/10	OMIM:617755
2186	BPTF	HP:0000076	Vesicoureteral reflux	HP:0040284	ORPHA:529962
2186	BPTF	HP:0002664	Neoplasm	-	OMIM:148000
2186	BPTF	HP:0000006	Autosomal dominant inheritance	-	OMIM:617755
2186	BPTF	HP:0000006	Autosomal dominant inheritance	-	OMIM:148000
2186	BPTF	HP:0002650	Scoliosis	HP:0040282	ORPHA:529962
2186	BPTF	HP:0000160	Narrow mouth	1/10	OMIM:617755
2186	BPTF	HP:0008935	Generalized neonatal hypotonia	HP:0040282	ORPHA:529962
2186	BPTF	HP:0011800	Midface retrusion	HP:0040282	ORPHA:529962
2186	BPTF	HP:0033142	Long nasal bridge	2/10	OMIM:617755
2186	BPTF	HP:0100726	Kaposi's sarcoma	-	OMIM:148000
2186	BPTF	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:529962
2186	BPTF	HP:0020045	Esodeviation	1/10	OMIM:617755
2186	BPTF	HP:0001034	Hypermelanotic macule	-	OMIM:148000
2186	BPTF	HP:0009824	Upper limb undergrowth	HP:0040282	ORPHA:529962
2186	BPTF	HP:0200055	Small hand	1/10	OMIM:617755
2186	BPTF	HP:0200053	Hemihypotrophy of lower limb	HP:0040283	ORPHA:529962
2186	BPTF	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:529962
2186	BPTF	HP:0004209	Clinodactyly of the 5th finger	3/10	OMIM:617755
2186	BPTF	HP:0001956	Truncal obesity	HP:0040281	ORPHA:529962
2186	BPTF	HP:0010055	Broad hallux	5/10	OMIM:617755
2186	BPTF	HP:0012683	Pineal cyst	HP:0040284	ORPHA:529962
2186	BPTF	HP:0000692	Tooth malposition	HP:0040282	ORPHA:529962
2186	BPTF	HP:0011304	Broad thumb	HP:0040283	ORPHA:529962
2186	BPTF	HP:0000664	Synophrys	HP:0040282	ORPHA:529962
2186	BPTF	HP:0004322	Short stature	4/10	OMIM:617755
2186	BPTF	HP:0003028	Abnormality of the ankle	HP:0040282	ORPHA:529962
2186	BPTF	HP:0003019	Abnormality of the wrist	HP:0040282	ORPHA:529962
2186	BPTF	HP:0012745	Short palpebral fissure	2/10	OMIM:617755
2186	BPTF	HP:0000738	Hallucinations	HP:0040283	ORPHA:529962
2186	BPTF	HP:0000739	Anxiety	HP:0040282	ORPHA:529962
2186	BPTF	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:529962
2186	BPTF	HP:0000750	Delayed speech and language development	10/10	OMIM:617755
2186	BPTF	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:529962
2186	BPTF	HP:0000712	Emotional lability	HP:0040283	ORPHA:529962
2186	BPTF	HP:0000708	Atypical behavior	HP:0040282	ORPHA:529962
2186	BPTF	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:529962
2186	BPTF	HP:0000824	Decreased response to growth hormone stimulation test	-	ORPHA:529962
2186	BPTF	HP:0011648	Patent ductus arteriosus after birth at term	HP:0040283	ORPHA:529962
2186	BPTF	HP:0000969	Edema	-	OMIM:148000
2186	BPTF	HP:0000286	Epicanthus	1/10	OMIM:617755
2186	BPTF	HP:0000252	Microcephaly	7/9	OMIM:617755
2186	BPTF	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:529962
2186	BPTF	HP:0000219	Thin upper lip vermilion	1/10	OMIM:617755
2186	BPTF	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:529962
2186	BPTF	HP:0000362	Otosclerosis	HP:0040283	ORPHA:529962
2186	BPTF	HP:0000347	Micrognathia	HP:0040282	ORPHA:529962
2186	BPTF	HP:0000347	Micrognathia	3/10	OMIM:617755
2186	BPTF	HP:0000316	Hypertelorism	HP:0040282	ORPHA:529962
2186	BPTF	HP:0000316	Hypertelorism	2/10	OMIM:617755
2186	BPTF	HP:0001642	Pulmonic stenosis	HP:0040284	ORPHA:529962
2186	BPTF	HP:0001657	Prolonged QT interval	HP:0040283	ORPHA:529962
2186	BPTF	HP:0000322	Short philtrum	HP:0040282	ORPHA:529962
2186	BPTF	HP:0000325	Triangular face	HP:0040282	ORPHA:529962
2186	BPTF	HP:0002967	Cubitus valgus	HP:0040282	ORPHA:529962
2186	BPTF	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:529962
2186	BPTF	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:529962
2186	BPTF	HP:0000490	Deeply set eye	HP:0040282	ORPHA:529962
2186	BPTF	HP:0000455	Broad nasal tip	1/10	OMIM:617755
2186	BPTF	HP:0000475	Broad neck	HP:0040282	ORPHA:529962
2186	BPTF	HP:0000470	Short neck	HP:0040282	ORPHA:529962
2186	BPTF	HP:0001763	Pes planus	1/10	OMIM:617755
2186	BPTF	HP:0000448	Prominent nose	7/10	OMIM:617755
2186	BPTF	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:529962
2186	BPTF	HP:0001845	Overlapping toe	1/10	OMIM:617755
2186	BPTF	HP:0001852	Sandal gap	1/10	OMIM:617755
2186	BPTF	HP:0000508	Ptosis	HP:0040282	ORPHA:529962
2186	BPTF	HP:0000582	Upslanted palpebral fissure	2/10	OMIM:617755
2186	BPTF	HP:0011229	Broad eyebrow	2/10	OMIM:617755
2186	BPTF	HP:0000574	Thick eyebrow	HP:0040282	ORPHA:529962
2186	BPTF	HP:0000545	Myopia	HP:0040282	ORPHA:529962
2187	FANCB	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
2187	FANCB	HP:0001161	Hand polydactyly	-	OMIM:314390
2187	FANCB	HP:0010963	Absence of stomach bubble on fetal sonography	1/1	OMIM:314390
2187	FANCB	HP:0009943	Complete duplication of thumb phalanx	-	OMIM:227650
2187	FANCB	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
2187	FANCB	HP:0001195	Single umbilical artery	1/6	OMIM:300514
2187	FANCB	HP:0001195	Single umbilical artery	HP:0040283	ORPHA:3412
2187	FANCB	HP:0009892	Anotia	HP:0040283	ORPHA:3412
2187	FANCB	HP:0002414	Spina bifida	HP:0040283	ORPHA:3412
2187	FANCB	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
2187	FANCB	HP:0002410	Aqueductal stenosis	HP:0040281	ORPHA:3412
2187	FANCB	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
2187	FANCB	HP:0001249	Intellectual disability	1/4	OMIM:300514
2187	FANCB	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3412
2187	FANCB	HP:0001249	Intellectual disability	-	OMIM:227650
2187	FANCB	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
2187	FANCB	HP:0002575	Tracheoesophageal fistula	1/6	OMIM:300514
2187	FANCB	HP:0002575	Tracheoesophageal fistula	11/11	OMIM:314390
2187	FANCB	HP:0002575	Tracheoesophageal fistula	HP:0040281	ORPHA:3412
2187	FANCB	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
2187	FANCB	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
2187	FANCB	HP:0008750	Laryngeal atresia	1/1	OMIM:314390
2187	FANCB	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
2187	FANCB	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
2187	FANCB	HP:0008678	Renal hypoplasia/aplasia	HP:0040281	ORPHA:3412
2187	FANCB	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
2187	FANCB	HP:0003811	Neonatal death	1/1	OMIM:314390
2187	FANCB	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
2187	FANCB	HP:0000086	Ectopic kidney	-	OMIM:227650
2187	FANCB	HP:0000085	Horseshoe kidney	-	OMIM:227650
2187	FANCB	HP:0000081	Duplicated collecting system	-	OMIM:227650
2187	FANCB	HP:0000068	Urethral atresia	-	OMIM:314390
2187	FANCB	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
2187	FANCB	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
2187	FANCB	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
2187	FANCB	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
2187	FANCB	HP:0000054	Micropenis	2/6	OMIM:300514
2187	FANCB	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
2187	FANCB	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:3412
2187	FANCB	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
2187	FANCB	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
2187	FANCB	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
2187	FANCB	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:3412
2187	FANCB	HP:0000028	Cryptorchidism	-	OMIM:227650
2187	FANCB	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
2187	FANCB	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
2187	FANCB	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
2187	FANCB	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
2187	FANCB	HP:0000007	Autosomal recessive inheritance	-	OMIM:227650
2187	FANCB	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
2187	FANCB	HP:0001321	Cerebellar hypoplasia	1/6	OMIM:300514
2187	FANCB	HP:0003974	Absent radius	-	OMIM:314390
2187	FANCB	HP:0003974	Absent radius	-	OMIM:227650
2187	FANCB	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
2187	FANCB	HP:0000135	Hypogonadism	4/4	OMIM:300514
2187	FANCB	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
2187	FANCB	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
2187	FANCB	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
2187	FANCB	HP:0000126	Hydronephrosis	-	OMIM:314390
2187	FANCB	HP:0000105	Enlarged kidney	-	OMIM:314390
2187	FANCB	HP:0000104	Renal agenesis	3/6	OMIM:300514
2187	FANCB	HP:0000104	Renal agenesis	-	OMIM:227650
2187	FANCB	HP:0000104	Renal agenesis	HP:0040281	ORPHA:3412
2187	FANCB	HP:0001419	X-linked recessive inheritance	-	OMIM:314390
2187	FANCB	HP:0001419	X-linked recessive inheritance	-	OMIM:300514
2187	FANCB	HP:0002023	Anal atresia	HP:0040281	ORPHA:3412
2187	FANCB	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
2187	FANCB	HP:0002023	Anal atresia	1/1	OMIM:314390
2187	FANCB	HP:0002032	Esophageal atresia	1/6	OMIM:300514
2187	FANCB	HP:0002032	Esophageal atresia	1/1	OMIM:314390
2187	FANCB	HP:0002032	Esophageal atresia	HP:0040281	ORPHA:3412
2187	FANCB	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
2187	FANCB	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:3412
2187	FANCB	HP:0100541	Femoral hernia	HP:0040283	ORPHA:3412
2187	FANCB	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
2187	FANCB	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:3412
2187	FANCB	HP:0002089	Pulmonary hypoplasia	1/1	OMIM:314390
2187	FANCB	HP:0002079	Hypoplasia of the corpus callosum	1/6	OMIM:300514
2187	FANCB	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
2187	FANCB	HP:0010469	Absent testis	HP:0040283	ORPHA:84
2187	FANCB	HP:0002139	Arrhinencephaly	HP:0040283	ORPHA:3412
2187	FANCB	HP:0003468	Abnormal vertebral morphology	-	OMIM:300514
2187	FANCB	HP:0003468	Abnormal vertebral morphology	-	OMIM:314390
2187	FANCB	HP:0002119	Ventriculomegaly	6/6	OMIM:300514
2187	FANCB	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
2187	FANCB	HP:0002101	Abnormal lung lobation	HP:0040283	OMIM:300514
2187	FANCB	HP:0009623	Proximal placement of thumb	-	OMIM:314390
2187	FANCB	HP:0002188	Delayed CNS myelination	1/6	OMIM:300514
2187	FANCB	HP:0003593	Infantile onset	1/4	OMIM:300514
2187	FANCB	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
2187	FANCB	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
2187	FANCB	HP:0002247	Duodenal atresia	2/6	OMIM:300514
2187	FANCB	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
2187	FANCB	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
2187	FANCB	HP:0001017	Anemic pallor	-	OMIM:227650
2187	FANCB	HP:0004977	Bilateral radial aplasia	5/6	OMIM:300514
2187	FANCB	HP:0001000	Abnormality of skin pigmentation	-	OMIM:227650
2187	FANCB	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
2187	FANCB	HP:0009777	Absent thumb	5/6	OMIM:300514
2187	FANCB	HP:0009777	Absent thumb	-	OMIM:227650
2187	FANCB	HP:0009778	Short thumb	-	OMIM:227650
2187	FANCB	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
2187	FANCB	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
2187	FANCB	HP:0031853	Isomerism	-	OMIM:314390
2187	FANCB	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
2187	FANCB	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
2187	FANCB	HP:0001909	Leukemia	-	OMIM:227650
2187	FANCB	HP:0001903	Anemia	-	OMIM:227650
2187	FANCB	HP:0001903	Anemia	HP:0040281	ORPHA:84
2187	FANCB	HP:0001915	Aplastic anemia	5/10	OMIM:300514
2187	FANCB	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
2187	FANCB	HP:0004322	Short stature	HP:0040281	ORPHA:84
2187	FANCB	HP:0004322	Short stature	-	OMIM:227650
2187	FANCB	HP:0030680	Abnormal cardiovascular system morphology	-	OMIM:227650
2187	FANCB	HP:0030680	Abnormal cardiovascular system morphology	-	OMIM:314390
2187	FANCB	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:3412
2187	FANCB	HP:0034197	Third trimester onset	1/1	OMIM:314390
2187	FANCB	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
2187	FANCB	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
2187	FANCB	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
2187	FANCB	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
2187	FANCB	HP:0011463	Childhood onset	3/4	OMIM:300514
2187	FANCB	HP:0000925	Abnormality of the vertebral column	-	OMIM:314390
2187	FANCB	HP:0005792	Short humerus	-	OMIM:314390
2187	FANCB	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
2187	FANCB	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:300514
2187	FANCB	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:227650
2187	FANCB	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
2187	FANCB	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
2187	FANCB	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
2187	FANCB	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	-	OMIM:227650
2187	FANCB	HP:0003214	Prolonged G2 phase of cell cycle	-	OMIM:227650
2187	FANCB	HP:0003220	Abnormality of chromosome stability	3/3	OMIM:300514
2187	FANCB	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
2187	FANCB	HP:0003221	Chromosomal breakage induced by crosslinking agents	-	OMIM:227650
2187	FANCB	HP:0003251	Male infertility	HP:0040284	OMIM:227650
2187	FANCB	HP:0010305	Absence of the sacrum	HP:0040283	ORPHA:3412
2187	FANCB	HP:0000978	Bruising susceptibility	-	OMIM:227650
2187	FANCB	HP:0000957	Cafe-au-lait spot	-	OMIM:227650
2187	FANCB	HP:0000960	Sacral dimple	1/1	OMIM:314390
2187	FANCB	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
2187	FANCB	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
2187	FANCB	HP:0000278	Retrognathia	HP:0040283	ORPHA:3412
2187	FANCB	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
2187	FANCB	HP:0007766	Optic disc hypoplasia	2/6	OMIM:300514
2187	FANCB	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
2187	FANCB	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
2187	FANCB	HP:0002827	Hip dislocation	HP:0040283	ORPHA:3412
2187	FANCB	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
2187	FANCB	HP:0000238	Hydrocephalus	-	OMIM:314390
2187	FANCB	HP:0000238	Hydrocephalus	2/6	OMIM:300514
2187	FANCB	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
2187	FANCB	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:3412
2187	FANCB	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
2187	FANCB	HP:0000252	Microcephaly	-	OMIM:227650
2187	FANCB	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
2187	FANCB	HP:0012210	Abnormal renal morphology	-	OMIM:227650
2187	FANCB	HP:0000218	High palate	HP:0040283	ORPHA:84
2187	FANCB	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
2187	FANCB	HP:0001561	Polyhydramnios	1/1	OMIM:314390
2187	FANCB	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:3412
2187	FANCB	HP:0001522	Death in infancy	2/6	OMIM:300514
2187	FANCB	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
2187	FANCB	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
2187	FANCB	HP:0001518	Small for gestational age	-	OMIM:227650
2187	FANCB	HP:0001511	Intrauterine growth retardation	4/4	OMIM:300514
2187	FANCB	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
2187	FANCB	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3412
2187	FANCB	HP:0001510	Growth delay	6/6	OMIM:300514
2187	FANCB	HP:0001510	Growth delay	HP:0040283	ORPHA:84
2187	FANCB	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
2187	FANCB	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
2187	FANCB	HP:0000396	Overfolded helix	1/6	OMIM:300514
2187	FANCB	HP:0011027	Abnormal fallopian tube morphology	HP:0040283	ORPHA:3412
2187	FANCB	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
2187	FANCB	HP:0002937	Hemivertebrae	HP:0040282	ORPHA:3412
2187	FANCB	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
2187	FANCB	HP:0000365	Hearing impairment	-	OMIM:227650
2187	FANCB	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
2187	FANCB	HP:0000356	Abnormality of the outer ear	HP:0040283	ORPHA:3412
2187	FANCB	HP:0000369	Low-set ears	3/6	OMIM:300514
2187	FANCB	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
2187	FANCB	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
2187	FANCB	HP:0001669	Transposition of the great arteries	-	OMIM:314390
2187	FANCB	HP:0001680	Coarctation of aorta	1/6	OMIM:300514
2187	FANCB	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
2187	FANCB	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
2187	FANCB	HP:0000347	Micrognathia	HP:0040283	ORPHA:3412
2187	FANCB	HP:0001651	Dextrocardia	1/1	OMIM:314390
2187	FANCB	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
2187	FANCB	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
2187	FANCB	HP:0001643	Patent ductus arteriosus	2/6	OMIM:300514
2187	FANCB	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
2187	FANCB	HP:0002984	Hypoplasia of the radius	HP:0040282	ORPHA:3412
2187	FANCB	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
2187	FANCB	HP:0001629	Ventricular septal defect	1/6	OMIM:300514
2187	FANCB	HP:0001627	Abnormal heart morphology	-	OMIM:227650
2187	FANCB	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
2187	FANCB	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
2187	FANCB	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
2187	FANCB	HP:0005301	Persistent left superior vena cava	1/1	OMIM:314390
2187	FANCB	HP:0006695	Atrioventricular canal defect	-	OMIM:314390
2187	FANCB	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
2187	FANCB	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
2187	FANCB	HP:0000486	Strabismus	HP:0040283	ORPHA:84
2187	FANCB	HP:0000486	Strabismus	-	OMIM:227650
2187	FANCB	HP:0000482	Microcornea	HP:0040281	ORPHA:3412
2187	FANCB	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
2187	FANCB	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
2187	FANCB	HP:0000470	Short neck	2/6	OMIM:300514
2187	FANCB	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
2187	FANCB	HP:0001763	Pes planus	HP:0040283	ORPHA:84
2187	FANCB	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
2187	FANCB	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
2187	FANCB	HP:0011267	Microtia, third degree	HP:0040283	ORPHA:3412
2187	FANCB	HP:0000518	Cataract	HP:0040283	ORPHA:84
2187	FANCB	HP:0000528	Anophthalmia	HP:0040283	ORPHA:3412
2187	FANCB	HP:0000520	Proptosis	HP:0040283	ORPHA:84
2187	FANCB	HP:0001824	Weight loss	HP:0040283	ORPHA:84
2187	FANCB	HP:0000508	Ptosis	HP:0040283	ORPHA:84
2187	FANCB	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
2187	FANCB	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
2187	FANCB	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
2187	FANCB	HP:0000587	Abnormal optic nerve morphology	HP:0040281	ORPHA:3412
2187	FANCB	HP:0000568	Microphthalmia	-	OMIM:227650
2187	FANCB	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
2187	FANCB	HP:0000568	Microphthalmia	HP:0040283	ORPHA:3412
2187	FANCB	HP:0001896	Reticulocytopenia	-	OMIM:227650
2187	FANCB	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
2187	FANCB	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
2187	FANCB	HP:0001873	Thrombocytopenia	-	OMIM:227650
2187	FANCB	HP:0001873	Thrombocytopenia	5/10	OMIM:300514
2187	FANCB	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
2187	FANCB	HP:0001876	Pancytopenia	-	OMIM:227650
2187	FANCB	HP:0001875	Decreased total neutrophil count	-	OMIM:227650
2188	FANCF	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
2188	FANCF	HP:0009943	Complete duplication of thumb phalanx	-	OMIM:227650
2188	FANCF	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
2188	FANCF	HP:0001195	Single umbilical artery	1/3	OMIM:603467
2188	FANCF	HP:0008551	Microtia	1/3	OMIM:603467
2188	FANCF	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
2188	FANCF	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
2188	FANCF	HP:0001249	Intellectual disability	-	OMIM:227650
2188	FANCF	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
2188	FANCF	HP:0001233	2-3 finger cutaneous syndactyly	1/3	OMIM:603467
2188	FANCF	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
2188	FANCF	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
2188	FANCF	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
2188	FANCF	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
2188	FANCF	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
2188	FANCF	HP:0000089	Renal hypoplasia	1/3	OMIM:603467
2188	FANCF	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
2188	FANCF	HP:0000086	Ectopic kidney	-	OMIM:227650
2188	FANCF	HP:0000085	Horseshoe kidney	-	OMIM:227650
2188	FANCF	HP:0000081	Duplicated collecting system	-	OMIM:227650
2188	FANCF	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
2188	FANCF	HP:0000076	Vesicoureteral reflux	2/3	OMIM:603467
2188	FANCF	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
2188	FANCF	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
2188	FANCF	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
2188	FANCF	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
2188	FANCF	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
2188	FANCF	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
2188	FANCF	HP:0000028	Cryptorchidism	1/3	OMIM:603467
2188	FANCF	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
2188	FANCF	HP:0000028	Cryptorchidism	-	OMIM:227650
2188	FANCF	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
2188	FANCF	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
2188	FANCF	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
2188	FANCF	HP:0001328	Specific learning disability	1/3	OMIM:603467
2188	FANCF	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
2188	FANCF	HP:0000007	Autosomal recessive inheritance	-	OMIM:603467
2188	FANCF	HP:0000007	Autosomal recessive inheritance	-	OMIM:227650
2188	FANCF	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
2188	FANCF	HP:0003974	Absent radius	-	OMIM:227650
2188	FANCF	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
2188	FANCF	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
2188	FANCF	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
2188	FANCF	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
2188	FANCF	HP:0000125	Pelvic kidney	2/3	OMIM:603467
2188	FANCF	HP:0000104	Renal agenesis	-	OMIM:227650
2188	FANCF	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
2188	FANCF	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
2188	FANCF	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
2188	FANCF	HP:0002090	Pneumonia	1/1	OMIM:603467
2188	FANCF	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
2188	FANCF	HP:0010469	Absent testis	HP:0040283	ORPHA:84
2188	FANCF	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
2188	FANCF	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
2188	FANCF	HP:0003577	Congenital onset	3/3	OMIM:603467
2188	FANCF	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
2188	FANCF	HP:0002247	Duodenal atresia	1/3	OMIM:603467
2188	FANCF	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
2188	FANCF	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
2188	FANCF	HP:0001017	Anemic pallor	-	OMIM:227650
2188	FANCF	HP:0001000	Abnormality of skin pigmentation	-	OMIM:227650
2188	FANCF	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
2188	FANCF	HP:0009777	Absent thumb	1/3	OMIM:603467
2188	FANCF	HP:0009777	Absent thumb	-	OMIM:227650
2188	FANCF	HP:0009778	Short thumb	-	OMIM:227650
2188	FANCF	HP:0009778	Short thumb	1/3	OMIM:603467
2188	FANCF	HP:0005528	Bone marrow hypocellularity	1/1	OMIM:603467
2188	FANCF	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
2188	FANCF	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
2188	FANCF	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
2188	FANCF	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
2188	FANCF	HP:0001909	Leukemia	-	OMIM:227650
2188	FANCF	HP:0001903	Anemia	-	OMIM:227650
2188	FANCF	HP:0001903	Anemia	1/1	OMIM:603467
2188	FANCF	HP:0001903	Anemia	HP:0040281	ORPHA:84
2188	FANCF	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
2188	FANCF	HP:0004322	Short stature	HP:0040281	ORPHA:84
2188	FANCF	HP:0004322	Short stature	3/4	OMIM:603467
2188	FANCF	HP:0004322	Short stature	-	OMIM:227650
2188	FANCF	HP:0030680	Abnormal cardiovascular system morphology	-	OMIM:227650
2188	FANCF	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
2188	FANCF	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
2188	FANCF	HP:0011419	Placental abruption	1/3	OMIM:603467
2188	FANCF	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
2188	FANCF	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
2188	FANCF	HP:0000750	Delayed speech and language development	1/3	OMIM:603467
2188	FANCF	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
2188	FANCF	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:227650
2188	FANCF	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
2188	FANCF	HP:0000824	Decreased response to growth hormone stimulation test	2/3	OMIM:603467
2188	FANCF	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
2188	FANCF	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
2188	FANCF	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	-	OMIM:227650
2188	FANCF	HP:0003214	Prolonged G2 phase of cell cycle	-	OMIM:227650
2188	FANCF	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
2188	FANCF	HP:0003221	Chromosomal breakage induced by crosslinking agents	1/1	OMIM:603467
2188	FANCF	HP:0003221	Chromosomal breakage induced by crosslinking agents	-	OMIM:227650
2188	FANCF	HP:0003251	Male infertility	HP:0040284	OMIM:227650
2188	FANCF	HP:0000978	Bruising susceptibility	-	OMIM:227650
2188	FANCF	HP:0000957	Cafe-au-lait spot	-	OMIM:227650
2188	FANCF	HP:0000957	Cafe-au-lait spot	3/3	OMIM:603467
2188	FANCF	HP:0000953	Hyperpigmentation of the skin	1/1	OMIM:603467
2188	FANCF	HP:0000960	Sacral dimple	1/3	OMIM:603467
2188	FANCF	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
2188	FANCF	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
2188	FANCF	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
2188	FANCF	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
2188	FANCF	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
2188	FANCF	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
2188	FANCF	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
2188	FANCF	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
2188	FANCF	HP:0000252	Microcephaly	2/4	OMIM:603467
2188	FANCF	HP:0000252	Microcephaly	-	OMIM:227650
2188	FANCF	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
2188	FANCF	HP:0012210	Abnormal renal morphology	-	OMIM:227650
2188	FANCF	HP:0000218	High palate	HP:0040283	ORPHA:84
2188	FANCF	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
2188	FANCF	HP:0001561	Polyhydramnios	1/3	OMIM:603467
2188	FANCF	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
2188	FANCF	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
2188	FANCF	HP:0001508	Failure to thrive	1/1	OMIM:603467
2188	FANCF	HP:0001518	Small for gestational age	-	OMIM:227650
2188	FANCF	HP:0001511	Intrauterine growth retardation	1/3	OMIM:603467
2188	FANCF	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
2188	FANCF	HP:0001510	Growth delay	HP:0040283	ORPHA:84
2188	FANCF	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
2188	FANCF	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
2188	FANCF	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
2188	FANCF	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
2188	FANCF	HP:0000365	Hearing impairment	-	OMIM:227650
2188	FANCF	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
2188	FANCF	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
2188	FANCF	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
2188	FANCF	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
2188	FANCF	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
2188	FANCF	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
2188	FANCF	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
2188	FANCF	HP:0001643	Patent ductus arteriosus	1/3	OMIM:603467
2188	FANCF	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
2188	FANCF	HP:0002984	Hypoplasia of the radius	1/3	OMIM:603467
2188	FANCF	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
2188	FANCF	HP:0001627	Abnormal heart morphology	-	OMIM:227650
2188	FANCF	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
2188	FANCF	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
2188	FANCF	HP:0001631	Atrial septal defect	1/3	OMIM:603467
2188	FANCF	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
2188	FANCF	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
2188	FANCF	HP:0000405	Conductive hearing impairment	2/3	OMIM:603467
2188	FANCF	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
2188	FANCF	HP:0000486	Strabismus	HP:0040283	ORPHA:84
2188	FANCF	HP:0000486	Strabismus	-	OMIM:227650
2188	FANCF	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
2188	FANCF	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
2188	FANCF	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
2188	FANCF	HP:0030260	Microphallus	1/3	OMIM:603467
2188	FANCF	HP:0001763	Pes planus	HP:0040283	ORPHA:84
2188	FANCF	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
2188	FANCF	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
2188	FANCF	HP:0000518	Cataract	HP:0040283	ORPHA:84
2188	FANCF	HP:0000520	Proptosis	HP:0040283	ORPHA:84
2188	FANCF	HP:0001824	Weight loss	HP:0040283	ORPHA:84
2188	FANCF	HP:0000508	Ptosis	HP:0040283	ORPHA:84
2188	FANCF	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
2188	FANCF	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
2188	FANCF	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
2188	FANCF	HP:0000568	Microphthalmia	-	OMIM:227650
2188	FANCF	HP:0000568	Microphthalmia	2/3	OMIM:603467
2188	FANCF	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
2188	FANCF	HP:0001896	Reticulocytopenia	-	OMIM:227650
2188	FANCF	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
2188	FANCF	HP:0001882	Decreased total leukocyte count	1/1	OMIM:603467
2188	FANCF	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
2188	FANCF	HP:0001873	Thrombocytopenia	-	OMIM:227650
2188	FANCF	HP:0001873	Thrombocytopenia	1/1	OMIM:603467
2188	FANCF	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
2188	FANCF	HP:0001876	Pancytopenia	-	OMIM:227650
2188	FANCF	HP:0001875	Decreased total neutrophil count	-	OMIM:227650
2189	FANCG	HP:0001172	Abnormal thumb morphology	-	OMIM:614082
2189	FANCG	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
2189	FANCG	HP:0009943	Complete duplication of thumb phalanx	-	OMIM:227650
2189	FANCG	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
2189	FANCG	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
2189	FANCG	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
2189	FANCG	HP:0001249	Intellectual disability	-	OMIM:227650
2189	FANCG	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
2189	FANCG	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
2189	FANCG	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
2189	FANCG	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
2189	FANCG	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
2189	FANCG	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
2189	FANCG	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
2189	FANCG	HP:0000086	Ectopic kidney	-	OMIM:227650
2189	FANCG	HP:0000085	Horseshoe kidney	-	OMIM:227650
2189	FANCG	HP:0000081	Duplicated collecting system	-	OMIM:227650
2189	FANCG	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
2189	FANCG	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
2189	FANCG	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
2189	FANCG	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
2189	FANCG	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
2189	FANCG	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
2189	FANCG	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
2189	FANCG	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
2189	FANCG	HP:0000028	Cryptorchidism	-	OMIM:227650
2189	FANCG	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
2189	FANCG	HP:0007565	Multiple cafe-au-lait spots	-	OMIM:614082
2189	FANCG	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
2189	FANCG	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
2189	FANCG	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
2189	FANCG	HP:0000007	Autosomal recessive inheritance	-	OMIM:227650
2189	FANCG	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
2189	FANCG	HP:0003974	Absent radius	-	OMIM:227650
2189	FANCG	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
2189	FANCG	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
2189	FANCG	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
2189	FANCG	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
2189	FANCG	HP:0000104	Renal agenesis	-	OMIM:227650
2189	FANCG	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
2189	FANCG	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
2189	FANCG	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
2189	FANCG	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
2189	FANCG	HP:0010469	Absent testis	HP:0040283	ORPHA:84
2189	FANCG	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
2189	FANCG	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
2189	FANCG	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
2189	FANCG	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
2189	FANCG	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
2189	FANCG	HP:0001017	Anemic pallor	-	OMIM:227650
2189	FANCG	HP:0001000	Abnormality of skin pigmentation	-	OMIM:227650
2189	FANCG	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
2189	FANCG	HP:0009777	Absent thumb	-	OMIM:227650
2189	FANCG	HP:0009778	Short thumb	-	OMIM:227650
2189	FANCG	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
2189	FANCG	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
2189	FANCG	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
2189	FANCG	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
2189	FANCG	HP:0001909	Leukemia	-	OMIM:614082
2189	FANCG	HP:0001909	Leukemia	-	OMIM:227650
2189	FANCG	HP:0001903	Anemia	-	OMIM:227650
2189	FANCG	HP:0001903	Anemia	-	OMIM:614082
2189	FANCG	HP:0001903	Anemia	HP:0040281	ORPHA:84
2189	FANCG	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
2189	FANCG	HP:0004322	Short stature	HP:0040281	ORPHA:84
2189	FANCG	HP:0004322	Short stature	-	OMIM:227650
2189	FANCG	HP:0030680	Abnormal cardiovascular system morphology	-	OMIM:227650
2189	FANCG	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
2189	FANCG	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
2189	FANCG	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
2189	FANCG	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
2189	FANCG	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
2189	FANCG	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:227650
2189	FANCG	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
2189	FANCG	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
2189	FANCG	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
2189	FANCG	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	-	OMIM:227650
2189	FANCG	HP:0003214	Prolonged G2 phase of cell cycle	-	OMIM:227650
2189	FANCG	HP:0003220	Abnormality of chromosome stability	-	OMIM:614082
2189	FANCG	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
2189	FANCG	HP:0003221	Chromosomal breakage induced by crosslinking agents	-	OMIM:227650
2189	FANCG	HP:0003251	Male infertility	HP:0040284	OMIM:227650
2189	FANCG	HP:0000978	Bruising susceptibility	-	OMIM:227650
2189	FANCG	HP:0000957	Cafe-au-lait spot	-	OMIM:227650
2189	FANCG	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
2189	FANCG	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
2189	FANCG	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
2189	FANCG	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
2189	FANCG	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
2189	FANCG	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
2189	FANCG	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
2189	FANCG	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
2189	FANCG	HP:0000252	Microcephaly	-	OMIM:227650
2189	FANCG	HP:0000252	Microcephaly	14/22	OMIM:614082
2189	FANCG	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
2189	FANCG	HP:0012210	Abnormal renal morphology	-	OMIM:227650
2189	FANCG	HP:0000218	High palate	HP:0040283	ORPHA:84
2189	FANCG	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
2189	FANCG	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
2189	FANCG	HP:0002863	Myelodysplasia	-	OMIM:614082
2189	FANCG	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
2189	FANCG	HP:0001518	Small for gestational age	-	OMIM:227650
2189	FANCG	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
2189	FANCG	HP:0001510	Growth delay	19/23	OMIM:614082
2189	FANCG	HP:0001510	Growth delay	HP:0040283	ORPHA:84
2189	FANCG	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
2189	FANCG	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
2189	FANCG	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
2189	FANCG	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
2189	FANCG	HP:0000365	Hearing impairment	-	OMIM:227650
2189	FANCG	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
2189	FANCG	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
2189	FANCG	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
2189	FANCG	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
2189	FANCG	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
2189	FANCG	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
2189	FANCG	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
2189	FANCG	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
2189	FANCG	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
2189	FANCG	HP:0001627	Abnormal heart morphology	-	OMIM:227650
2189	FANCG	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
2189	FANCG	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
2189	FANCG	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
2189	FANCG	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
2189	FANCG	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
2189	FANCG	HP:0000486	Strabismus	HP:0040283	ORPHA:84
2189	FANCG	HP:0000486	Strabismus	-	OMIM:227650
2189	FANCG	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
2189	FANCG	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
2189	FANCG	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
2189	FANCG	HP:0001763	Pes planus	HP:0040283	ORPHA:84
2189	FANCG	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
2189	FANCG	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
2189	FANCG	HP:0000518	Cataract	HP:0040283	ORPHA:84
2189	FANCG	HP:0000520	Proptosis	HP:0040283	ORPHA:84
2189	FANCG	HP:0001824	Weight loss	HP:0040283	ORPHA:84
2189	FANCG	HP:0000508	Ptosis	HP:0040283	ORPHA:84
2189	FANCG	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
2189	FANCG	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
2189	FANCG	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
2189	FANCG	HP:0000568	Microphthalmia	-	OMIM:227650
2189	FANCG	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
2189	FANCG	HP:0000568	Microphthalmia	8/22	OMIM:614082
2189	FANCG	HP:0001896	Reticulocytopenia	-	OMIM:227650
2189	FANCG	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
2189	FANCG	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
2189	FANCG	HP:0001873	Thrombocytopenia	-	OMIM:227650
2189	FANCG	HP:0001873	Thrombocytopenia	-	OMIM:614082
2189	FANCG	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
2189	FANCG	HP:0001876	Pancytopenia	-	OMIM:227650
2189	FANCG	HP:0001875	Decreased total neutrophil count	-	OMIM:227650
2189	FANCG	HP:0001875	Decreased total neutrophil count	-	OMIM:614082
2192	FBLN1	HP:0001159	Syndactyly	HP:0040282	ORPHA:404451
2192	FBLN1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2192	FBLN1	HP:0001293	Cranial nerve compression	-	OMIM:131300
2192	FBLN1	HP:0001270	Motor delay	HP:0040282	ORPHA:404451
2192	FBLN1	HP:0001285	Spastic tetraparesis	HP:0040282	ORPHA:404451
2192	FBLN1	HP:0001252	Hypotonia	2/7	OMIM:615777
2192	FBLN1	HP:0001249	Intellectual disability	5/7	OMIM:615777
2192	FBLN1	HP:0001260	Dysarthria	HP:0040282	ORPHA:404451
2192	FBLN1	HP:0001263	Global developmental delay	-	OMIM:615777
2192	FBLN1	HP:0002515	Waddling gait	54/102	OMIM:131300
2192	FBLN1	HP:0001382	Joint hypermobility	-	OMIM:615777
2192	FBLN1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2192	FBLN1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:404451
2192	FBLN1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2192	FBLN1	HP:0008780	Congenital bilateral hip dislocation	HP:0040282	ORPHA:404451
2192	FBLN1	HP:0001332	Dystonia	HP:0040282	ORPHA:404451
2192	FBLN1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2192	FBLN1	HP:0001324	Muscle weakness	40/96	OMIM:131300
2192	FBLN1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2192	FBLN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2192	FBLN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2192	FBLN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:608180
2192	FBLN1	HP:0002650	Scoliosis	12/14	OMIM:131300
2192	FBLN1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2192	FBLN1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2192	FBLN1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2192	FBLN1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2192	FBLN1	HP:0000175	Cleft palate	2/7	OMIM:615777
2192	FBLN1	HP:0001440	Metatarsal synostosis	-	OMIM:608180
2192	FBLN1	HP:0003396	Syringomyelia	HP:0040282	ORPHA:404451
2192	FBLN1	HP:0003388	Easy fatigability	36/76	OMIM:131300
2192	FBLN1	HP:0010442	Polydactyly	-	OMIM:608180
2192	FBLN1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2192	FBLN1	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:404451
2192	FBLN1	HP:0002200	Pseudobulbar signs	HP:0040282	ORPHA:404451
2192	FBLN1	HP:0009702	Carpal synostosis	-	OMIM:608180
2192	FBLN1	HP:0009701	Metacarpal synostosis	-	OMIM:608180
2192	FBLN1	HP:0007030	Nonprogressive encephalopathy	HP:0040282	ORPHA:404451
2192	FBLN1	HP:0008368	Tarsal synostosis	-	OMIM:608180
2192	FBLN1	HP:0003510	Severe short stature	7/7	OMIM:615777
2192	FBLN1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:404451
2192	FBLN1	HP:0002315	Headache	-	OMIM:131300
2192	FBLN1	HP:0004976	Knee dislocation	6/7	OMIM:615777
2192	FBLN1	HP:0009803	Short phalanx of finger	-	OMIM:615777
2192	FBLN1	HP:0009763	Limb pain	63/92	OMIM:131300
2192	FBLN1	HP:0002307	Drooling	HP:0040282	ORPHA:404451
2192	FBLN1	HP:0003621	Juvenile onset	-	OMIM:131300
2192	FBLN1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2192	FBLN1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2192	FBLN1	HP:6001056	Out-toeing	-	OMIM:131300
2192	FBLN1	HP:0000651	Diplopia	-	OMIM:131300
2192	FBLN1	HP:0001956	Truncal obesity	2/7	OMIM:615777
2192	FBLN1	HP:0000608	Macular degeneration	HP:0040282	ORPHA:404451
2192	FBLN1	HP:0001903	Anemia	HP:0040283	OMIM:131300
2192	FBLN1	HP:0010049	Short metacarpal	-	OMIM:615777
2192	FBLN1	HP:0000678	Dental crowding	-	OMIM:615777
2192	FBLN1	HP:0000670	Carious teeth	-	OMIM:131300
2192	FBLN1	HP:0011304	Broad thumb	2/7	OMIM:615777
2192	FBLN1	HP:0000668	Hypodontia	-	OMIM:615777
2192	FBLN1	HP:0000664	Synophrys	-	OMIM:615777
2192	FBLN1	HP:0004396	Poor appetite	-	OMIM:131300
2192	FBLN1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2192	FBLN1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2192	FBLN1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2192	FBLN1	HP:0003026	Short long bone	7/7	OMIM:615777
2192	FBLN1	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:404451
2192	FBLN1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2192	FBLN1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2192	FBLN1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2192	FBLN1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2192	FBLN1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:404451
2192	FBLN1	HP:0000750	Delayed speech and language development	-	OMIM:615777
2192	FBLN1	HP:0011461	Fetal onset	7/7	OMIM:615777
2192	FBLN1	HP:0000774	Narrow chest	2/7	OMIM:615777
2192	FBLN1	HP:0000926	Platyspondyly	1/7	OMIM:615777
2192	FBLN1	HP:0003180	Flat acetabular roof	-	OMIM:615777
2192	FBLN1	HP:0004482	Relative macrocephaly	-	OMIM:615777
2192	FBLN1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2192	FBLN1	HP:0011506	Choroidal neovascularization	HP:0040282	ORPHA:404451
2192	FBLN1	HP:0000823	Delayed puberty	-	OMIM:131300
2192	FBLN1	HP:0000894	Short clavicles	-	OMIM:615777
2192	FBLN1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2192	FBLN1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2192	FBLN1	HP:0000286	Epicanthus	1/7	OMIM:615777
2192	FBLN1	HP:0000280	Coarse facial features	2/7	OMIM:615777
2192	FBLN1	HP:0002827	Hip dislocation	3/7	OMIM:615777
2192	FBLN1	HP:0000252	Microcephaly	-	OMIM:615777
2192	FBLN1	HP:0002857	Genu valgum	-	OMIM:131300
2192	FBLN1	HP:0001533	Slender build	-	OMIM:131300
2192	FBLN1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2192	FBLN1	HP:0007807	Optic nerve compression	-	OMIM:131300
2192	FBLN1	HP:0012368	Flat face	7/7	OMIM:615777
2192	FBLN1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2192	FBLN1	HP:0000365	Hearing impairment	10/67	OMIM:131300
2192	FBLN1	HP:0000343	Long philtrum	1/7	OMIM:615777
2192	FBLN1	HP:0011001	Increased bone mineral density	-	OMIM:131300
2192	FBLN1	HP:0000311	Round face	2/7	OMIM:615777
2192	FBLN1	HP:0002970	Genu varum	-	OMIM:615777
2192	FBLN1	HP:0000303	Mandibular prognathia	-	OMIM:131300
2192	FBLN1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2192	FBLN1	HP:0012469	Infantile spasms	HP:0040282	ORPHA:404451
2192	FBLN1	HP:0000470	Short neck	1/7	OMIM:615777
2192	FBLN1	HP:0001770	Toe syndactyly	-	OMIM:608180
2192	FBLN1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2192	FBLN1	HP:0001763	Pes planus	1/7	OMIM:615777
2192	FBLN1	HP:0001840	Metatarsus adductus	-	OMIM:615777
2192	FBLN1	HP:0000520	Proptosis	2/4	OMIM:131300
2192	FBLN1	HP:0000520	Proptosis	7/7	OMIM:615777
2192	FBLN1	HP:0000592	Blue sclerae	2/7	OMIM:615777
2192	FBLN1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2192	FBLN1	HP:0012514	Lower limb pain	4/4	OMIM:131300
2193	FARSA	HP:0001166	Arachnodactyly	1/1	OMIM:619013
2193	FARSA	HP:0001290	Generalized hypotonia	1/1	OMIM:619013
2193	FARSA	HP:0001263	Global developmental delay	1/1	OMIM:619013
2193	FARSA	HP:0001397	Hepatic steatosis	1/1	OMIM:619013
2193	FARSA	HP:0001382	Joint hypermobility	1/1	OMIM:619013
2193	FARSA	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:619013
2193	FARSA	HP:0000007	Autosomal recessive inheritance	-	OMIM:619013
2193	FARSA	HP:0002650	Scoliosis	1/1	OMIM:619013
2193	FARSA	HP:0001433	Hepatosplenomegaly	1/1	OMIM:619013
2193	FARSA	HP:0002091	Restrictive ventilatory defect	1/1	OMIM:619013
2193	FARSA	HP:0002155	Hypertriglyceridemia	1/1	OMIM:619013
2193	FARSA	HP:0003546	Exercise intolerance	1/1	OMIM:619013
2193	FARSA	HP:0007109	Periventricular cysts	1/1	OMIM:619013
2193	FARSA	HP:0001935	Microcytic anemia	1/1	OMIM:619013
2193	FARSA	HP:0004322	Short stature	1/1	OMIM:619013
2193	FARSA	HP:0003073	Hypoalbuminemia	1/1	OMIM:619013
2193	FARSA	HP:0012735	Cough	1/1	OMIM:619013
2193	FARSA	HP:0011461	Fetal onset	-	OMIM:619013
2193	FARSA	HP:0004428	Elfin facies	1/1	OMIM:619013
2193	FARSA	HP:0003199	Decreased muscle mass	1/1	OMIM:619013
2193	FARSA	HP:0000821	Hypothyroidism	1/1	OMIM:619013
2193	FARSA	HP:0040075	Hypopituitarism	1/1	OMIM:619013
2193	FARSA	HP:0000252	Microcephaly	1/1	OMIM:619013
2193	FARSA	HP:0001562	Oligohydramnios	1/1	OMIM:619013
2193	FARSA	HP:0006530	Abnormal pulmonary interstitial morphology	1/1	OMIM:619013
2193	FARSA	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:619013
2193	FARSA	HP:0000490	Deeply set eye	1/1	OMIM:619013
2196	FAT2	HP:0001272	Cerebellar atrophy	1/1	OMIM:617769
2196	FAT2	HP:0001260	Dysarthria	1/1	OMIM:617769
2196	FAT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617769
2196	FAT2	HP:0002066	Gait ataxia	1/1	OMIM:617769
2196	FAT2	HP:0002070	Limb ataxia	1/1	OMIM:617769
2196	FAT2	HP:0010545	Downbeat nystagmus	1/1	OMIM:617769
2196	FAT2	HP:0003596	Middle age onset	1/1	OMIM:617769
2196	FAT2	HP:0003677	Slowly progressive	-	OMIM:617769
2200	FBN1	HP:0001169	Broad palm	-	OMIM:608328
2200	FBN1	HP:0009901	Crumpled ear	90/119	OMIM:121050
2200	FBN1	HP:0009901	Crumpled ear	HP:0040282	ORPHA:284979
2200	FBN1	HP:0001187	Hyperextensibility of the finger joints	1/1	OMIM:616914
2200	FBN1	HP:0001181	Adducted thumb	HP:0040281	ORPHA:284979
2200	FBN1	HP:0001181	Adducted thumb	42/90	OMIM:121050
2200	FBN1	HP:0001156	Brachydactyly	HP:0040281	ORPHA:969
2200	FBN1	HP:0001156	Brachydactyly	-	OMIM:608328
2200	FBN1	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3449
2200	FBN1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:2623
2200	FBN1	HP:0001166	Arachnodactyly	HP:0040281	ORPHA:284979
2200	FBN1	HP:0001166	Arachnodactyly	4/37	OMIM:129600
2200	FBN1	HP:0001166	Arachnodactyly	104/124	OMIM:121050
2200	FBN1	HP:0001166	Arachnodactyly	124/197	OMIM:154700
2200	FBN1	HP:0001166	Arachnodactyly	4/4	OMIM:604308
2200	FBN1	HP:0001166	Arachnodactyly	1/1	OMIM:616914
2200	FBN1	HP:0001166	Arachnodactyly	34/37	OMIM:182212
2200	FBN1	HP:0001166	Arachnodactyly	6/15	OMIM:208050
2200	FBN1	HP:0001166	Arachnodactyly	HP:0040281	ORPHA:2462
2200	FBN1	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
2200	FBN1	HP:0100960	Lateral ventricular asymmetry	1/1	OMIM:616914
2200	FBN1	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:2833
2200	FBN1	HP:0009918	Ectopia pupillae	HP:0040283	ORPHA:1885
2200	FBN1	HP:0003745	Sporadic	-	OMIM:182212
2200	FBN1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
2200	FBN1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2200	FBN1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:616914
2200	FBN1	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
2200	FBN1	HP:0001297	Stroke	HP:0040283	ORPHA:91387
2200	FBN1	HP:0001293	Cranial nerve compression	-	OMIM:131300
2200	FBN1	HP:0001290	Generalized hypotonia	-	OMIM:208050
2200	FBN1	HP:0001290	Generalized hypotonia	-	OMIM:182212
2200	FBN1	HP:0100807	Long fingers	HP:0040281	ORPHA:284979
2200	FBN1	HP:0100807	Long fingers	1/1	OMIM:616914
2200	FBN1	HP:0001270	Motor delay	HP:0040281	ORPHA:284979
2200	FBN1	HP:0001270	Motor delay	1/1	OMIM:616914
2200	FBN1	HP:0001270	Motor delay	-	OMIM:121050
2200	FBN1	HP:0001256	Intellectual disability, mild	-	OMIM:608328
2200	FBN1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:3449
2200	FBN1	HP:0001252	Hypotonia	HP:0040282	ORPHA:284979
2200	FBN1	HP:0001252	Hypotonia	1/1	OMIM:616914
2200	FBN1	HP:0001252	Hypotonia	HP:0040281	ORPHA:2462
2200	FBN1	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
2200	FBN1	HP:0001252	Hypotonia	2/7	OMIM:615777
2200	FBN1	HP:0001252	Hypotonia	26/37	OMIM:182212
2200	FBN1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2462
2200	FBN1	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
2200	FBN1	HP:0001249	Intellectual disability	5/7	OMIM:615777
2200	FBN1	HP:0001249	Intellectual disability	-	OMIM:182212
2200	FBN1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:284979
2200	FBN1	HP:0001263	Global developmental delay	-	OMIM:615777
2200	FBN1	HP:0001263	Global developmental delay	-	OMIM:182212
2200	FBN1	HP:0001230	Broad metacarpals	-	OMIM:608328
2200	FBN1	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
2200	FBN1	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
2200	FBN1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:284979
2200	FBN1	HP:0002515	Waddling gait	54/102	OMIM:131300
2200	FBN1	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
2200	FBN1	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
2200	FBN1	HP:0000098	Tall stature	1/23	OMIM:129600
2200	FBN1	HP:0000098	Tall stature	-	OMIM:154700
2200	FBN1	HP:0000098	Tall stature	1/1	OMIM:616914
2200	FBN1	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
2200	FBN1	HP:0001377	Limited elbow extension	94/109	OMIM:121050
2200	FBN1	HP:0001377	Limited elbow extension	29/199	OMIM:154700
2200	FBN1	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:2833
2200	FBN1	HP:0001376	Limitation of joint mobility	19/19	OMIM:614185
2200	FBN1	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:3449
2200	FBN1	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:2623
2200	FBN1	HP:0001371	Flexion contracture	-	OMIM:208050
2200	FBN1	HP:0001371	Flexion contracture	HP:0040281	ORPHA:284979
2200	FBN1	HP:0001371	Flexion contracture	-	OMIM:154700
2200	FBN1	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:2623
2200	FBN1	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1885
2200	FBN1	HP:0001387	Joint stiffness	HP:0040283	ORPHA:969
2200	FBN1	HP:0001387	Joint stiffness	-	OMIM:614185
2200	FBN1	HP:0001387	Joint stiffness	-	OMIM:608328
2200	FBN1	HP:0001387	Joint stiffness	HP:0040283	ORPHA:3449
2200	FBN1	HP:0001387	Joint stiffness	HP:0040283	ORPHA:2462
2200	FBN1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:284979
2200	FBN1	HP:0001382	Joint hypermobility	1/1	OMIM:130050
2200	FBN1	HP:0001382	Joint hypermobility	12/14	OMIM:208050
2200	FBN1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:2462
2200	FBN1	HP:0001382	Joint hypermobility	7/37	OMIM:129600
2200	FBN1	HP:0001382	Joint hypermobility	11/53	OMIM:154700
2200	FBN1	HP:0001382	Joint hypermobility	-	OMIM:615777
2200	FBN1	HP:0001382	Joint hypermobility	31/47	OMIM:182212
2200	FBN1	HP:0012019	Lens luxation	1/1	OMIM:608328
2200	FBN1	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
2200	FBN1	HP:0000023	Inguinal hernia	11/11	OMIM:130050
2200	FBN1	HP:0000023	Inguinal hernia	8/15	OMIM:208050
2200	FBN1	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:2462
2200	FBN1	HP:0000023	Inguinal hernia	19/34	OMIM:182212
2200	FBN1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
2200	FBN1	HP:0002682	Broad skull	-	OMIM:608328
2200	FBN1	HP:0001363	Craniosynostosis	-	OMIM:616914
2200	FBN1	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:2462
2200	FBN1	HP:0001363	Craniosynostosis	18/37	OMIM:182212
2200	FBN1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2200	FBN1	HP:0000028	Cryptorchidism	1/1	OMIM:130050
2200	FBN1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2462
2200	FBN1	HP:0000028	Cryptorchidism	1/13	OMIM:182212
2200	FBN1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2200	FBN1	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:616914
2200	FBN1	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
2200	FBN1	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
2200	FBN1	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
2200	FBN1	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
2200	FBN1	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
2200	FBN1	HP:0007485	Absence of subcutaneous fat	1/1	OMIM:616914
2200	FBN1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2200	FBN1	HP:0001324	Muscle weakness	HP:0040283	ORPHA:2833
2200	FBN1	HP:0001324	Muscle weakness	HP:0040283	OMIM:184900
2200	FBN1	HP:0001324	Muscle weakness	40/96	OMIM:131300
2200	FBN1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2200	FBN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
2200	FBN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2200	FBN1	HP:0001334	Communicating hydrocephalus	HP:0040282	ORPHA:2462
2200	FBN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:102370
2200	FBN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:604308
2200	FBN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
2200	FBN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
2200	FBN1	HP:0000006	Autosomal dominant inheritance	20/20	OMIM:129600
2200	FBN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
2200	FBN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616914
2200	FBN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
2200	FBN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2200	FBN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614185
2200	FBN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:184900
2200	FBN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:608328
2200	FBN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
2200	FBN1	HP:0002650	Scoliosis	1/4	OMIM:604308
2200	FBN1	HP:0002650	Scoliosis	-	OMIM:608328
2200	FBN1	HP:0002650	Scoliosis	16/53	OMIM:154700
2200	FBN1	HP:0002650	Scoliosis	11/15	OMIM:121050
2200	FBN1	HP:0002650	Scoliosis	12/14	OMIM:131300
2200	FBN1	HP:0002650	Scoliosis	3/15	OMIM:208050
2200	FBN1	HP:0002650	Scoliosis	HP:0040282	ORPHA:2462
2200	FBN1	HP:0002650	Scoliosis	1/31	OMIM:129600
2200	FBN1	HP:0002650	Scoliosis	23/37	OMIM:182212
2200	FBN1	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
2200	FBN1	HP:0002647	Aortic dissection	1/58	OMIM:154700
2200	FBN1	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
2200	FBN1	HP:0002643	Neonatal respiratory distress	HP:0040281	ORPHA:284979
2200	FBN1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2200	FBN1	HP:0002619	Varicose veins	-	OMIM:130050
2200	FBN1	HP:0002616	Aortic root aneurysm	HP:0040282	ORPHA:284979
2200	FBN1	HP:0002616	Aortic root aneurysm	0/44	OMIM:129600
2200	FBN1	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
2200	FBN1	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
2200	FBN1	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
2200	FBN1	HP:0002616	Aortic root aneurysm	1/1	OMIM:616914
2200	FBN1	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
2200	FBN1	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
2200	FBN1	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
2200	FBN1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2200	FBN1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2200	FBN1	HP:0012185	Constrictive median neuropathy	HP:0040283	ORPHA:2623
2200	FBN1	HP:0000189	Narrow palate	-	OMIM:608328
2200	FBN1	HP:0000189	Narrow palate	-	OMIM:182212
2200	FBN1	HP:0000189	Narrow palate	-	OMIM:154700
2200	FBN1	HP:0000179	Thick lower lip vermilion	HP:0040282	ORPHA:969
2200	FBN1	HP:0000179	Thick lower lip vermilion	-	OMIM:102370
2200	FBN1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2200	FBN1	HP:0000193	Bifid uvula	0/14	OMIM:208050
2200	FBN1	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
2200	FBN1	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
2200	FBN1	HP:0000160	Narrow mouth	HP:0040282	ORPHA:969
2200	FBN1	HP:0000160	Narrow mouth	-	OMIM:102370
2200	FBN1	HP:0012151	Hemothorax	3/4	OMIM:130050
2200	FBN1	HP:0000175	Cleft palate	2/7	OMIM:615777
2200	FBN1	HP:0000139	Uterine prolapse	-	OMIM:130050
2200	FBN1	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:2833
2200	FBN1	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
2200	FBN1	HP:0007663	Reduced visual acuity	1/1	OMIM:616914
2200	FBN1	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
2200	FBN1	HP:0410018	Recurrent ear infections	HP:0040282	ORPHA:2623
2200	FBN1	HP:0002705	High, narrow palate	HP:0040282	ORPHA:284979
2200	FBN1	HP:0002705	High, narrow palate	1/1	OMIM:616914
2200	FBN1	HP:0002705	High, narrow palate	HP:0040281	ORPHA:2462
2200	FBN1	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
2200	FBN1	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
2200	FBN1	HP:0002779	Tracheomalacia	HP:0040283	ORPHA:2623
2200	FBN1	HP:0002777	Tracheal stenosis	HP:0040283	ORPHA:2623
2200	FBN1	HP:0002753	Thin bony cortex	-	OMIM:608328
2200	FBN1	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
2200	FBN1	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
2200	FBN1	HP:0002750	Delayed skeletal maturation	-	OMIM:614185
2200	FBN1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:969
2200	FBN1	HP:0002750	Delayed skeletal maturation	1/1	OMIM:608328
2200	FBN1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:3449
2200	FBN1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:2623
2200	FBN1	HP:0002750	Delayed skeletal maturation	-	OMIM:102370
2200	FBN1	HP:0002020	Gastroesophageal reflux	4/8	OMIM:184900
2200	FBN1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:2462
2200	FBN1	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
2200	FBN1	HP:0002036	Hiatus hernia	-	OMIM:208050
2200	FBN1	HP:0002002	Deep philtrum	-	OMIM:102370
2200	FBN1	HP:0002007	Frontal bossing	-	OMIM:121050
2200	FBN1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:2462
2200	FBN1	HP:0002007	Frontal bossing	-	OMIM:182212
2200	FBN1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:2462
2200	FBN1	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:2833
2200	FBN1	HP:0003302	Spondylolisthesis	-	OMIM:154700
2200	FBN1	HP:0003300	Ovoid vertebral bodies	-	OMIM:614185
2200	FBN1	HP:0003300	Ovoid vertebral bodies	HP:0040283	ORPHA:969
2200	FBN1	HP:0003300	Ovoid vertebral bodies	-	OMIM:102370
2200	FBN1	HP:0011800	Midface retrusion	HP:0040283	ORPHA:2833
2200	FBN1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:1885
2200	FBN1	HP:0002099	Asthma	HP:0040282	ORPHA:2623
2200	FBN1	HP:0002097	Emphysema	HP:0040280	ORPHA:284979
2200	FBN1	HP:0002097	Emphysema	8/9	OMIM:130050
2200	FBN1	HP:0002097	Emphysema	HP:0040283	OMIM:154700
2200	FBN1	HP:0002092	Pulmonary arterial hypertension	1/19	OMIM:614185
2200	FBN1	HP:0002093	Respiratory insufficiency	5/19	OMIM:614185
2200	FBN1	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:2623
2200	FBN1	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:2623
2200	FBN1	HP:0030961	Microspherophakia	HP:0040281	ORPHA:3449
2200	FBN1	HP:0030961	Microspherophakia	-	OMIM:608328
2200	FBN1	HP:0030961	Microspherophakia	2/53	OMIM:154700
2200	FBN1	HP:0030961	Microspherophakia	6/6	OMIM:129600
2200	FBN1	HP:0003388	Easy fatigability	36/76	OMIM:131300
2200	FBN1	HP:0010446	Tricuspid stenosis	3/19	OMIM:614185
2200	FBN1	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
2200	FBN1	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
2200	FBN1	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
2200	FBN1	HP:0008124	Talipes calcaneovarus	HP:0040281	ORPHA:284979
2200	FBN1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2200	FBN1	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:2833
2200	FBN1	HP:0100578	Lipoatrophy	HP:0040281	ORPHA:284979
2200	FBN1	HP:0100578	Lipoatrophy	1/1	OMIM:616914
2200	FBN1	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:969
2200	FBN1	HP:0040261	Increased size of nasopharyngeal adenoids	HP:0040282	ORPHA:2623
2200	FBN1	HP:0005900	Fifth metacarpal with ulnar notch	HP:0040283	ORPHA:969
2200	FBN1	HP:0005900	Fifth metacarpal with ulnar notch	-	OMIM:102370
2200	FBN1	HP:0010499	Patellar subluxation	12/22	OMIM:121050
2200	FBN1	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
2200	FBN1	HP:0002140	Ischemic stroke	-	OMIM:208050
2200	FBN1	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
2200	FBN1	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
2200	FBN1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:2462
2200	FBN1	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
2200	FBN1	HP:0002107	Pneumothorax	2/2	OMIM:130050
2200	FBN1	HP:0002107	Pneumothorax	6/53	OMIM:154700
2200	FBN1	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
2200	FBN1	HP:0002104	Apnea	HP:0040283	ORPHA:2462
2200	FBN1	HP:0002105	Hemoptysis	6/10	OMIM:130050
2200	FBN1	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
2200	FBN1	HP:0003416	Spinal canal stenosis	-	OMIM:608328
2200	FBN1	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
2200	FBN1	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:2462
2200	FBN1	HP:0010511	Long toe	HP:0040281	ORPHA:284979
2200	FBN1	HP:0010579	Cone-shaped epiphysis	-	OMIM:614185
2200	FBN1	HP:0010579	Cone-shaped epiphysis	-	OMIM:102370
2200	FBN1	HP:0003596	Middle age onset	5/7	OMIM:129600
2200	FBN1	HP:0003593	Infantile onset	5/16	OMIM:208050
2200	FBN1	HP:0003577	Congenital onset	8/8	OMIM:184900
2200	FBN1	HP:0003577	Congenital onset	5/5	OMIM:121050
2200	FBN1	HP:0003577	Congenital onset	12/26	OMIM:208050
2200	FBN1	HP:0002240	Hepatomegaly	5/19	OMIM:614185
2200	FBN1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:2623
2200	FBN1	HP:0003581	Adult onset	5/5	OMIM:129600
2200	FBN1	HP:0100718	Uterine rupture	-	OMIM:130050
2200	FBN1	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
2200	FBN1	HP:0004890	Elevated pulmonary artery pressure	HP:0040282	ORPHA:2623
2200	FBN1	HP:0004872	Incisional hernia	-	OMIM:154700
2200	FBN1	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
2200	FBN1	HP:0100775	Dural ectasia	3/4	OMIM:604308
2200	FBN1	HP:0100775	Dural ectasia	112/140	OMIM:154700
2200	FBN1	HP:0100775	Dural ectasia	1/1	OMIM:616914
2200	FBN1	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
2200	FBN1	HP:0100749	Chest pain	1/2	OMIM:130050
2200	FBN1	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
2200	FBN1	HP:0002293	Alopecia of scalp	-	OMIM:130050
2200	FBN1	HP:0034671	Knee contracture	7/14	OMIM:121050
2200	FBN1	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
2200	FBN1	HP:0010648	Dermal translucency	3/3	OMIM:130050
2200	FBN1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:284979
2200	FBN1	HP:0003510	Severe short stature	7/7	OMIM:615777
2200	FBN1	HP:0003510	Severe short stature	HP:0040281	ORPHA:969
2200	FBN1	HP:0003510	Severe short stature	-	OMIM:102370
2200	FBN1	HP:0003508	Proportionate short stature	-	OMIM:608328
2200	FBN1	HP:0007099	Chiari type I malformation	-	OMIM:182212
2200	FBN1	HP:0025019	Arterial rupture	-	OMIM:130050
2200	FBN1	HP:0001065	Striae distensae	11/53	OMIM:154700
2200	FBN1	HP:0001065	Striae distensae	6/29	OMIM:129600
2200	FBN1	HP:0001065	Striae distensae	1/1	OMIM:608328
2200	FBN1	HP:0001065	Striae distensae	5/7	OMIM:604308
2200	FBN1	HP:0001030	Fragile skin	-	OMIM:130050
2200	FBN1	HP:0003691	Scapular winging	1/1	OMIM:616914
2200	FBN1	HP:0001027	Soft, doughy skin	-	OMIM:208050
2200	FBN1	HP:0002315	Headache	-	OMIM:131300
2200	FBN1	HP:0004976	Knee dislocation	6/7	OMIM:615777
2200	FBN1	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
2200	FBN1	HP:0100645	Cystocele	-	OMIM:130050
2200	FBN1	HP:0100679	Lack of skin elasticity	1/1	OMIM:608328
2200	FBN1	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:2833
2200	FBN1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:2833
2200	FBN1	HP:0009830	Peripheral neuropathy	2/8	OMIM:184900
2200	FBN1	HP:0001097	Keratoconjunctivitis sicca	1/1	OMIM:616914
2200	FBN1	HP:0001073	Cigarette-paper scars	-	OMIM:130050
2200	FBN1	HP:0001072	Thickened skin	-	OMIM:614185
2200	FBN1	HP:0001072	Thickened skin	-	OMIM:608328
2200	FBN1	HP:0001072	Thickened skin	HP:0040281	ORPHA:2833
2200	FBN1	HP:0001072	Thickened skin	HP:0040282	ORPHA:3449
2200	FBN1	HP:0001072	Thickened skin	HP:0040282	ORPHA:2623
2200	FBN1	HP:0001072	Thickened skin	-	OMIM:102370
2200	FBN1	HP:0100625	Enlarged thorax	HP:0040281	ORPHA:284979
2200	FBN1	HP:0009803	Short phalanx of finger	-	OMIM:615777
2200	FBN1	HP:0009803	Short phalanx of finger	-	OMIM:102370
2200	FBN1	HP:0001083	Ectopia lentis	HP:0040281	ORPHA:1885
2200	FBN1	HP:0001083	Ectopia lentis	HP:0040281	ORPHA:284979
2200	FBN1	HP:0001083	Ectopia lentis	51/57	OMIM:129600
2200	FBN1	HP:0001083	Ectopia lentis	-	OMIM:608328
2200	FBN1	HP:0001083	Ectopia lentis	HP:0040281	ORPHA:2084
2200	FBN1	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
2200	FBN1	HP:0001083	Ectopia lentis	119/251	OMIM:154700
2200	FBN1	HP:0001083	Ectopia lentis	HP:0040282	ORPHA:3449
2200	FBN1	HP:0001083	Ectopia lentis	0/3	OMIM:604308
2200	FBN1	HP:0001083	Ectopia lentis	1/1	OMIM:616914
2200	FBN1	HP:0200055	Small hand	HP:0040281	ORPHA:969
2200	FBN1	HP:0100693	Iridodonesis	1/1	OMIM:608328
2200	FBN1	HP:0100693	Iridodonesis	HP:0040281	ORPHA:284979
2200	FBN1	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
2200	FBN1	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
2200	FBN1	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
2200	FBN1	HP:0009778	Short thumb	HP:0040281	ORPHA:3449
2200	FBN1	HP:0010743	Short metatarsal	1/1	OMIM:608328
2200	FBN1	HP:0009763	Limb pain	63/92	OMIM:131300
2200	FBN1	HP:0009768	Broad phalanges of the hand	-	OMIM:608328
2200	FBN1	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
2200	FBN1	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
2200	FBN1	HP:0003623	Neonatal onset	3/16	OMIM:208050
2200	FBN1	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
2200	FBN1	HP:0004970	Ascending tubular aorta aneurysm	HP:0040281	ORPHA:284979
2200	FBN1	HP:0002308	Chiari malformation	HP:0040283	ORPHA:2462
2200	FBN1	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
2200	FBN1	HP:0004933	Ascending aortic dissection	1/1	OMIM:608328
2200	FBN1	HP:0004933	Ascending aortic dissection	0/7	OMIM:604308
2200	FBN1	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
2200	FBN1	HP:0003621	Juvenile onset	-	OMIM:131300
2200	FBN1	HP:0003621	Juvenile onset	2/16	OMIM:208050
2200	FBN1	HP:0003621	Juvenile onset	3/12	OMIM:129600
2200	FBN1	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
2200	FBN1	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
2200	FBN1	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
2200	FBN1	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
2200	FBN1	HP:0004942	Aortic aneurysm	7/7	OMIM:604308
2200	FBN1	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
2200	FBN1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2200	FBN1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
2200	FBN1	HP:0004279	Short palm	HP:0040281	ORPHA:969
2200	FBN1	HP:0004279	Short palm	19/19	OMIM:614185
2200	FBN1	HP:0004279	Short palm	HP:0040282	ORPHA:2623
2200	FBN1	HP:0004279	Short palm	-	OMIM:102370
2200	FBN1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2200	FBN1	HP:0000639	Nystagmus	HP:0040283	ORPHA:1885
2200	FBN1	HP:6001056	Out-toeing	-	OMIM:131300
2200	FBN1	HP:0000651	Diplopia	-	OMIM:131300
2200	FBN1	HP:0001977	Abnormal thrombosis	-	OMIM:208050
2200	FBN1	HP:0000646	Amblyopia	HP:0040283	ORPHA:1885
2200	FBN1	HP:0000618	Blindness	-	OMIM:608328
2200	FBN1	HP:0001956	Truncal obesity	2/7	OMIM:615777
2200	FBN1	HP:0001903	Anemia	1/1	OMIM:130050
2200	FBN1	HP:0001903	Anemia	HP:0040283	OMIM:131300
2200	FBN1	HP:0010049	Short metacarpal	-	OMIM:615777
2200	FBN1	HP:0010049	Short metacarpal	HP:0040283	ORPHA:969
2200	FBN1	HP:0010049	Short metacarpal	1/1	OMIM:608328
2200	FBN1	HP:0010049	Short metacarpal	-	OMIM:102370
2200	FBN1	HP:0009064	Generalized lipodystrophy	1/1	OMIM:616914
2200	FBN1	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
2200	FBN1	HP:0000678	Dental crowding	8/53	OMIM:154700
2200	FBN1	HP:0000678	Dental crowding	-	OMIM:615777
2200	FBN1	HP:0000692	Tooth malposition	-	OMIM:608328
2200	FBN1	HP:0000689	Dental malocclusion	-	OMIM:182212
2200	FBN1	HP:0000670	Carious teeth	-	OMIM:131300
2200	FBN1	HP:0011304	Broad thumb	2/7	OMIM:615777
2200	FBN1	HP:0000668	Hypodontia	-	OMIM:615777
2200	FBN1	HP:0000664	Synophrys	-	OMIM:615777
2200	FBN1	HP:0004322	Short stature	-	OMIM:130050
2200	FBN1	HP:0004322	Short stature	HP:0040283	ORPHA:2833
2200	FBN1	HP:0004322	Short stature	19/19	OMIM:614185
2200	FBN1	HP:0004322	Short stature	HP:0040283	OMIM:184900
2200	FBN1	HP:0004322	Short stature	HP:0040281	ORPHA:2084
2200	FBN1	HP:0004322	Short stature	11/11	OMIM:608328
2200	FBN1	HP:0004322	Short stature	HP:0040281	ORPHA:3449
2200	FBN1	HP:0004322	Short stature	HP:0040281	ORPHA:2623
2200	FBN1	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
2200	FBN1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:3449
2200	FBN1	HP:0003088	Premature osteoarthritis	-	OMIM:154700
2200	FBN1	HP:0003083	Dislocated radial head	5/37	OMIM:182212
2200	FBN1	HP:0003066	Limited knee extension	38/45	OMIM:121050
2200	FBN1	HP:0004396	Poor appetite	-	OMIM:131300
2200	FBN1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2200	FBN1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2200	FBN1	HP:0003042	Elbow dislocation	1/12	OMIM:121050
2200	FBN1	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:2462
2200	FBN1	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
2200	FBN1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2200	FBN1	HP:0003011	Abnormality of the musculature	HP:0040283	ORPHA:2833
2200	FBN1	HP:0003026	Short long bone	7/7	OMIM:615777
2200	FBN1	HP:0003026	Short long bone	HP:0040282	ORPHA:2623
2200	FBN1	HP:0003026	Short long bone	-	OMIM:102370
2200	FBN1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2200	FBN1	HP:0005684	Distal arthrogryposis	-	OMIM:121050
2200	FBN1	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
2200	FBN1	HP:0000767	Pectus excavatum	2/14	OMIM:121050
2200	FBN1	HP:0000767	Pectus excavatum	1/4	OMIM:130050
2200	FBN1	HP:0000767	Pectus excavatum	-	OMIM:616914
2200	FBN1	HP:0000767	Pectus excavatum	3/15	OMIM:208050
2200	FBN1	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:2462
2200	FBN1	HP:0000767	Pectus excavatum	3/37	OMIM:129600
2200	FBN1	HP:0000767	Pectus excavatum	44/146	OMIM:154700
2200	FBN1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2200	FBN1	HP:0000767	Pectus excavatum	-	OMIM:182212
2200	FBN1	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
2200	FBN1	HP:0000768	Pectus carinatum	4/14	OMIM:121050
2200	FBN1	HP:0000768	Pectus carinatum	1/4	OMIM:604308
2200	FBN1	HP:0000768	Pectus carinatum	2/15	OMIM:208050
2200	FBN1	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:2462
2200	FBN1	HP:0000768	Pectus carinatum	HP:0040281	ORPHA:284979
2200	FBN1	HP:0000768	Pectus carinatum	1/37	OMIM:129600
2200	FBN1	HP:0000768	Pectus carinatum	58/146	OMIM:154700
2200	FBN1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2200	FBN1	HP:0000768	Pectus carinatum	-	OMIM:182212
2200	FBN1	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:969
2200	FBN1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2200	FBN1	HP:0000750	Delayed speech and language development	-	OMIM:615777
2200	FBN1	HP:0000704	Periodontitis	-	OMIM:130050
2200	FBN1	HP:0011463	Childhood onset	1/16	OMIM:208050
2200	FBN1	HP:0011463	Childhood onset	6/8	OMIM:129600
2200	FBN1	HP:0011462	Young adult onset	3/16	OMIM:208050
2200	FBN1	HP:0011462	Young adult onset	1/4	OMIM:129600
2200	FBN1	HP:0011461	Fetal onset	7/7	OMIM:615777
2200	FBN1	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
2200	FBN1	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
2200	FBN1	HP:0012771	Increased arm span	HP:0040282	ORPHA:284979
2200	FBN1	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
2200	FBN1	HP:0012773	Reduced upper to lower segment ratio	7/37	OMIM:129600
2200	FBN1	HP:0009125	Lipodystrophy	HP:0040283	OMIM:184900
2200	FBN1	HP:0000774	Narrow chest	1/1	OMIM:616914
2200	FBN1	HP:0000774	Narrow chest	HP:0040283	ORPHA:2462
2200	FBN1	HP:0000774	Narrow chest	2/7	OMIM:615777
2200	FBN1	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
2200	FBN1	HP:0012759	Neurodevelopmental abnormality	0/1	OMIM:616914
2200	FBN1	HP:0011428	Short fetal femur length	HP:0040282	ORPHA:2623
2200	FBN1	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:2833
2200	FBN1	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:2833
2200	FBN1	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
2200	FBN1	HP:0030799	Scaphocephaly	-	OMIM:121050
2200	FBN1	HP:0030799	Scaphocephaly	-	OMIM:616914
2200	FBN1	HP:0003199	Decreased muscle mass	-	OMIM:154700
2200	FBN1	HP:0003196	Short nose	-	OMIM:614185
2200	FBN1	HP:0003196	Short nose	HP:0040281	ORPHA:969
2200	FBN1	HP:0003196	Short nose	HP:0040282	ORPHA:2623
2200	FBN1	HP:0000926	Platyspondyly	1/7	OMIM:615777
2200	FBN1	HP:0000921	Missing ribs	HP:0040283	ORPHA:2462
2200	FBN1	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
2200	FBN1	HP:0034281	Phalangeal cone-shaped epiphyses	HP:0040282	ORPHA:2623
2200	FBN1	HP:0003180	Flat acetabular roof	-	OMIM:615777
2200	FBN1	HP:0004482	Relative macrocephaly	-	OMIM:615777
2200	FBN1	HP:0004467	Preauricular pit	-	OMIM:187500
2200	FBN1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2200	FBN1	HP:0000883	Thin ribs	-	OMIM:182212
2200	FBN1	HP:0000885	Broad ribs	-	OMIM:608328
2200	FBN1	HP:0000822	Hypertension	HP:0040283	ORPHA:1885
2200	FBN1	HP:0000822	Hypertension	HP:0040283	ORPHA:2833
2200	FBN1	HP:0000822	Hypertension	HP:0040283	OMIM:616914
2200	FBN1	HP:0000822	Hypertension	-	OMIM:208050
2200	FBN1	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
2200	FBN1	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:2623
2200	FBN1	HP:0000823	Delayed puberty	-	OMIM:131300
2200	FBN1	HP:0000895	Lateral clavicle hook	-	OMIM:182212
2200	FBN1	HP:0000894	Short clavicles	-	OMIM:615777
2200	FBN1	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
2200	FBN1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2200	FBN1	HP:0005830	Flexion contracture of toe	1/1	OMIM:608328
2200	FBN1	HP:0034392	Joint contracture	HP:0040282	ORPHA:2623
2200	FBN1	HP:0034391	Elbow contracture	10/14	OMIM:121050
2200	FBN1	HP:0003273	Hip contracture	32/121	OMIM:121050
2200	FBN1	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
2200	FBN1	HP:0000995	Melanocytic nevus	1/1	OMIM:616914
2200	FBN1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040283	ORPHA:2462
2200	FBN1	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
2200	FBN1	HP:0000978	Bruising susceptibility	-	OMIM:616914
2200	FBN1	HP:0000978	Bruising susceptibility	-	OMIM:208050
2200	FBN1	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
2200	FBN1	HP:0000977	Soft skin	7/15	OMIM:208050
2200	FBN1	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
2200	FBN1	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
2200	FBN1	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
2200	FBN1	HP:0000974	Hyperextensible skin	HP:0040283	ORPHA:2462
2200	FBN1	HP:0000973	Cutis laxa	HP:0040281	ORPHA:284979
2200	FBN1	HP:0000973	Cutis laxa	5/14	OMIM:208050
2200	FBN1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2200	FBN1	HP:0034350	Valvular pulmonary stenosis	HP:0040282	ORPHA:2623
2200	FBN1	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
2200	FBN1	HP:0000963	Thin skin	4/13	OMIM:208050
2200	FBN1	HP:0000938	Osteopenia	-	OMIM:121050
2200	FBN1	HP:0000938	Osteopenia	HP:0040283	ORPHA:2462
2200	FBN1	HP:0000938	Osteopenia	-	OMIM:182212
2200	FBN1	HP:0000944	Abnormal metaphysis morphology	HP:0040283	ORPHA:2462
2200	FBN1	HP:0008081	Pes valgus	1/1	OMIM:616914
2200	FBN1	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
2200	FBN1	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040283	ORPHA:2833
2200	FBN1	HP:0009381	Short finger	1/1	OMIM:608328
2200	FBN1	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
2200	FBN1	HP:0000286	Epicanthus	1/7	OMIM:615777
2200	FBN1	HP:0025586	Hypertropia	8/573	OMIM:154700
2200	FBN1	HP:0000280	Coarse facial features	2/7	OMIM:615777
2200	FBN1	HP:0000278	Retrognathia	2/2	OMIM:616914
2200	FBN1	HP:0000278	Retrognathia	HP:0040281	ORPHA:2462
2200	FBN1	HP:0000278	Retrognathia	-	OMIM:154700
2200	FBN1	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
2200	FBN1	HP:0000293	Full cheeks	-	OMIM:614185
2200	FBN1	HP:0000260	Wide anterior fontanel	-	OMIM:182212
2200	FBN1	HP:0000256	Macrocephaly	1/1	OMIM:616914
2200	FBN1	HP:0000275	Narrow face	-	OMIM:154700
2200	FBN1	HP:0000276	Long face	14/14	OMIM:208050
2200	FBN1	HP:0000276	Long face	-	OMIM:154700
2200	FBN1	HP:0000272	Malar flattening	HP:0040282	ORPHA:1885
2200	FBN1	HP:0000272	Malar flattening	9/14	OMIM:208050
2200	FBN1	HP:0000272	Malar flattening	31/53	OMIM:154700
2200	FBN1	HP:0000268	Dolichocephaly	-	OMIM:121050
2200	FBN1	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:2462
2200	FBN1	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:284979
2200	FBN1	HP:0000268	Dolichocephaly	36/53	OMIM:154700
2200	FBN1	HP:0000268	Dolichocephaly	28/37	OMIM:182212
2200	FBN1	HP:0005136	Mitral annular calcification	-	OMIM:154700
2200	FBN1	HP:0006467	Limited shoulder movement	7/8	OMIM:184900
2200	FBN1	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
2200	FBN1	HP:0002816	Genu recurvatum	-	OMIM:182212
2200	FBN1	HP:0002816	Genu recurvatum	-	OMIM:154700
2200	FBN1	HP:0002827	Hip dislocation	3/7	OMIM:615777
2200	FBN1	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:969
2200	FBN1	HP:0002808	Kyphosis	1/1	OMIM:616914
2200	FBN1	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
2200	FBN1	HP:0006380	Knee flexion contracture	7/8	OMIM:184900
2200	FBN1	HP:0000244	Brachyturricephaly	-	OMIM:182212
2200	FBN1	HP:0000238	Hydrocephalus	1/1	OMIM:616914
2200	FBN1	HP:0000238	Hydrocephalus	13/37	OMIM:182212
2200	FBN1	HP:0000252	Microcephaly	HP:0040283	ORPHA:2462
2200	FBN1	HP:0000252	Microcephaly	-	OMIM:615777
2200	FBN1	HP:0000252	Microcephaly	6/37	OMIM:182212
2200	FBN1	HP:0000248	Brachycephaly	-	OMIM:121050
2200	FBN1	HP:0000248	Brachycephaly	-	OMIM:608328
2200	FBN1	HP:0000219	Thin upper lip vermilion	-	OMIM:614185
2200	FBN1	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:2623
2200	FBN1	HP:0000218	High palate	1/1	OMIM:616914
2200	FBN1	HP:0000218	High palate	1/1	OMIM:608328
2200	FBN1	HP:0000218	High palate	34/53	OMIM:154700
2200	FBN1	HP:0000218	High palate	30/102	OMIM:121050
2200	FBN1	HP:0000218	High palate	5/13	OMIM:208050
2200	FBN1	HP:0000218	High palate	4/37	OMIM:129600
2200	FBN1	HP:0000218	High palate	30/37	OMIM:182212
2200	FBN1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
2200	FBN1	HP:0001562	Oligohydramnios	-	OMIM:616914
2200	FBN1	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:2623
2200	FBN1	HP:0000233	Thin vermilion border	-	OMIM:130050
2200	FBN1	HP:0030009	Cervical insufficiency	-	OMIM:130050
2200	FBN1	HP:0002857	Genu valgum	-	OMIM:131300
2200	FBN1	HP:0002857	Genu valgum	HP:0040283	ORPHA:2462
2200	FBN1	HP:0002857	Genu valgum	4/37	OMIM:182212
2200	FBN1	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
2200	FBN1	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:2623
2200	FBN1	HP:0001537	Umbilical hernia	1/1	OMIM:608328
2200	FBN1	HP:0001537	Umbilical hernia	-	OMIM:208050
2200	FBN1	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:2462
2200	FBN1	HP:0001537	Umbilical hernia	13/37	OMIM:182212
2200	FBN1	HP:0001538	Protuberant abdomen	1/1	OMIM:608328
2200	FBN1	HP:0001533	Slender build	-	OMIM:131300
2200	FBN1	HP:0031364	Ecchymosis	-	OMIM:130050
2200	FBN1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2462
2200	FBN1	HP:0001519	Disproportionate tall stature	-	OMIM:121050
2200	FBN1	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
2200	FBN1	HP:0001519	Disproportionate tall stature	3/3	OMIM:604308
2200	FBN1	HP:0001518	Small for gestational age	HP:0040281	ORPHA:284979
2200	FBN1	HP:0030053	Stiff skin	8/8	OMIM:184900
2200	FBN1	HP:0030051	Tip-toe gait	-	OMIM:614185
2200	FBN1	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:2623
2200	FBN1	HP:0001511	Intrauterine growth retardation	1/1	OMIM:616914
2200	FBN1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2200	FBN1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2623
2200	FBN1	HP:0007807	Optic nerve compression	-	OMIM:131300
2200	FBN1	HP:0007800	Increased axial length of the globe	-	OMIM:154700
2200	FBN1	HP:0012385	Camptodactyly	86/110	OMIM:121050
2200	FBN1	HP:0012385	Camptodactyly	8/8	OMIM:184900
2200	FBN1	HP:0012385	Camptodactyly	19/53	OMIM:154700
2200	FBN1	HP:0012385	Camptodactyly	24/37	OMIM:182212
2200	FBN1	HP:0000387	Absent earlobe	-	OMIM:130050
2200	FBN1	HP:0012368	Flat face	7/7	OMIM:615777
2200	FBN1	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
2200	FBN1	HP:0000391	Thickened helices	1/1	OMIM:608328
2200	FBN1	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
2200	FBN1	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040283	ORPHA:2623
2200	FBN1	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
2200	FBN1	HP:0006536	Airway obstruction	HP:0040282	ORPHA:2623
2200	FBN1	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
2200	FBN1	HP:0001609	Hoarse voice	HP:0040283	ORPHA:969
2200	FBN1	HP:0001609	Hoarse voice	-	OMIM:102370
2200	FBN1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2200	FBN1	HP:0002938	Lumbar hyperlordosis	-	OMIM:608328
2200	FBN1	HP:0001602	Laryngeal stenosis	HP:0040283	ORPHA:2623
2200	FBN1	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:2623
2200	FBN1	HP:0005184	Prolonged QTc interval	HP:0040283	ORPHA:3449
2200	FBN1	HP:0005180	Tricuspid regurgitation	HP:0040280	ORPHA:284979
2200	FBN1	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
2200	FBN1	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
2200	FBN1	HP:0006480	Premature loss of teeth	-	OMIM:130050
2200	FBN1	HP:0006482	Abnormal dental morphology	-	OMIM:608328
2200	FBN1	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
2200	FBN1	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:2462
2200	FBN1	HP:0000365	Hearing impairment	10/67	OMIM:131300
2200	FBN1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:2462
2200	FBN1	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
2200	FBN1	HP:0011003	High myopia	HP:0040281	ORPHA:284979
2200	FBN1	HP:0011003	High myopia	1/1	OMIM:616914
2200	FBN1	HP:0011003	High myopia	11/11	OMIM:608328
2200	FBN1	HP:0011003	High myopia	HP:0040281	ORPHA:3449
2200	FBN1	HP:0000369	Low-set ears	HP:0040282	ORPHA:284979
2200	FBN1	HP:0000369	Low-set ears	HP:0040281	ORPHA:2462
2200	FBN1	HP:0000369	Low-set ears	32/37	OMIM:182212
2200	FBN1	HP:0000343	Long philtrum	-	OMIM:614185
2200	FBN1	HP:0000343	Long philtrum	HP:0040281	ORPHA:969
2200	FBN1	HP:0000343	Long philtrum	-	OMIM:208050
2200	FBN1	HP:0000343	Long philtrum	1/7	OMIM:615777
2200	FBN1	HP:0000343	Long philtrum	HP:0040282	ORPHA:2623
2200	FBN1	HP:0000343	Long philtrum	-	OMIM:102370
2200	FBN1	HP:0011001	Increased bone mineral density	-	OMIM:131300
2200	FBN1	HP:0000337	Broad forehead	1/1	OMIM:616914
2200	FBN1	HP:0000337	Broad forehead	-	OMIM:187500
2200	FBN1	HP:0002999	Patellar dislocation	2/20	OMIM:121050
2200	FBN1	HP:0000348	High forehead	HP:0040282	ORPHA:2462
2200	FBN1	HP:0000347	Micrognathia	HP:0040282	ORPHA:284979
2200	FBN1	HP:0000347	Micrognathia	-	OMIM:154700
2200	FBN1	HP:0000347	Micrognathia	26/94	OMIM:121050
2200	FBN1	HP:0000347	Micrognathia	5/14	OMIM:208050
2200	FBN1	HP:0000347	Micrognathia	HP:0040281	ORPHA:2462
2200	FBN1	HP:0000347	Micrognathia	33/37	OMIM:182212
2200	FBN1	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
2200	FBN1	HP:0001650	Aortic valve stenosis	1/19	OMIM:614185
2200	FBN1	HP:0001650	Aortic valve stenosis	-	OMIM:608328
2200	FBN1	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
2200	FBN1	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:3449
2200	FBN1	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:2623
2200	FBN1	HP:0000319	Smooth philtrum	-	OMIM:614185
2200	FBN1	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
2200	FBN1	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
2200	FBN1	HP:0001647	Bicuspid aortic valve	1/8	OMIM:184900
2200	FBN1	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
2200	FBN1	HP:0000316	Hypertelorism	-	OMIM:614185
2200	FBN1	HP:0000316	Hypertelorism	6/16	OMIM:208050
2200	FBN1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2462
2200	FBN1	HP:0000316	Hypertelorism	28/37	OMIM:182212
2200	FBN1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2623
2200	FBN1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
2200	FBN1	HP:0001646	Abnormal aortic valve morphology	HP:0040282	ORPHA:2462
2200	FBN1	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
2200	FBN1	HP:0001643	Patent ductus arteriosus	-	OMIM:608328
2200	FBN1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:3449
2200	FBN1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
2200	FBN1	HP:0000311	Round face	2/7	OMIM:615777
2200	FBN1	HP:0000311	Round face	HP:0040281	ORPHA:969
2200	FBN1	HP:0000311	Round face	HP:0040282	ORPHA:2623
2200	FBN1	HP:0000311	Round face	-	OMIM:102370
2200	FBN1	HP:0001642	Pulmonic stenosis	-	OMIM:608328
2200	FBN1	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:3449
2200	FBN1	HP:0030148	Heart murmur	HP:0040281	ORPHA:284979
2200	FBN1	HP:0000327	Hypoplasia of the maxilla	-	OMIM:608328
2200	FBN1	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
2200	FBN1	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:2462
2200	FBN1	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
2200	FBN1	HP:0001659	Aortic regurgitation	-	OMIM:208050
2200	FBN1	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
2200	FBN1	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
2200	FBN1	HP:0002987	Elbow flexion contracture	1/1	OMIM:608328
2200	FBN1	HP:0002987	Elbow flexion contracture	8/8	OMIM:184900
2200	FBN1	HP:0001653	Mitral regurgitation	HP:0040280	ORPHA:284979
2200	FBN1	HP:0001653	Mitral regurgitation	-	OMIM:121050
2200	FBN1	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
2200	FBN1	HP:0001653	Mitral regurgitation	-	OMIM:614185
2200	FBN1	HP:0001653	Mitral regurgitation	-	OMIM:608328
2200	FBN1	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:3449
2200	FBN1	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:2623
2200	FBN1	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:2462
2200	FBN1	HP:0000325	Triangular face	1/1	OMIM:616914
2200	FBN1	HP:0001629	Ventricular septal defect	-	OMIM:121050
2200	FBN1	HP:0001629	Ventricular septal defect	-	OMIM:608328
2200	FBN1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:3449
2200	FBN1	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:284979
2200	FBN1	HP:0001622	Premature birth	1/1	OMIM:616914
2200	FBN1	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
2200	FBN1	HP:0002970	Genu varum	-	OMIM:615777
2200	FBN1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
2200	FBN1	HP:0001635	Congestive heart failure	1/1	OMIM:608328
2200	FBN1	HP:0001635	Congestive heart failure	-	OMIM:154700
2200	FBN1	HP:0001631	Atrial septal defect	-	OMIM:121050
2200	FBN1	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:1885
2200	FBN1	HP:0000303	Mandibular prognathia	-	OMIM:131300
2200	FBN1	HP:0001634	Mitral valve prolapse	HP:0040281	ORPHA:284979
2200	FBN1	HP:0001634	Mitral valve prolapse	1/31	OMIM:129600
2200	FBN1	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
2200	FBN1	HP:0001634	Mitral valve prolapse	-	OMIM:130050
2200	FBN1	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
2200	FBN1	HP:0001634	Mitral valve prolapse	3/3	OMIM:604308
2200	FBN1	HP:0001634	Mitral valve prolapse	1/1	OMIM:616914
2200	FBN1	HP:0001634	Mitral valve prolapse	-	OMIM:614185
2200	FBN1	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
2200	FBN1	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:2462
2200	FBN1	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
2200	FBN1	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
2200	FBN1	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
2200	FBN1	HP:0006695	Atrioventricular canal defect	HP:0040283	ORPHA:2623
2200	FBN1	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
2200	FBN1	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
2200	FBN1	HP:0005328	Progeroid facial appearance	1/1	OMIM:616914
2200	FBN1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2833
2200	FBN1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:2462
2200	FBN1	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
2200	FBN1	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:2623
2200	FBN1	HP:0000400	Macrotia	7/15	OMIM:208050
2200	FBN1	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
2200	FBN1	HP:0001704	Tricuspid valve prolapse	HP:0040281	ORPHA:284979
2200	FBN1	HP:0001718	Mitral stenosis	-	OMIM:614185
2200	FBN1	HP:0001718	Mitral stenosis	HP:0040283	ORPHA:2623
2200	FBN1	HP:0001713	Abnormal cardiac ventricle morphology	HP:0040281	ORPHA:284979
2200	FBN1	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
2200	FBN1	HP:0005280	Depressed nasal bridge	-	OMIM:608328
2200	FBN1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2200	FBN1	HP:0000483	Astigmatism	3/53	OMIM:154700
2200	FBN1	HP:0000483	Astigmatism	1/1	OMIM:608328
2200	FBN1	HP:0000483	Astigmatism	5/15	OMIM:208050
2200	FBN1	HP:0000483	Astigmatism	HP:0040283	ORPHA:2623
2200	FBN1	HP:0000486	Strabismus	110/573	OMIM:154700
2200	FBN1	HP:0000486	Strabismus	HP:0040283	ORPHA:2833
2200	FBN1	HP:0000486	Strabismus	HP:0040282	ORPHA:2462
2200	FBN1	HP:0000486	Strabismus	3/30	OMIM:129600
2200	FBN1	HP:0000486	Strabismus	17/37	OMIM:182212
2200	FBN1	HP:0000485	Megalocornea	HP:0040281	ORPHA:284979
2200	FBN1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:284979
2200	FBN1	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:616914
2200	FBN1	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
2200	FBN1	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:2462
2200	FBN1	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
2200	FBN1	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
2200	FBN1	HP:0000490	Deeply set eye	1/1	OMIM:616914
2200	FBN1	HP:0000490	Deeply set eye	HP:0040282	ORPHA:284979
2200	FBN1	HP:0000490	Deeply set eye	25/63	OMIM:154700
2200	FBN1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:969
2200	FBN1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2462
2200	FBN1	HP:0000463	Anteverted nares	9/37	OMIM:182212
2200	FBN1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2623
2200	FBN1	HP:0000463	Anteverted nares	-	OMIM:102370
2200	FBN1	HP:0000460	Narrow nose	1/1	OMIM:616914
2200	FBN1	HP:0001786	Narrow foot	33/53	OMIM:154700
2200	FBN1	HP:0000470	Short neck	-	OMIM:121050
2200	FBN1	HP:0000470	Short neck	1/7	OMIM:615777
2200	FBN1	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
2200	FBN1	HP:0001773	Short foot	19/19	OMIM:614185
2200	FBN1	HP:0001773	Short foot	HP:0040282	ORPHA:2623
2200	FBN1	HP:0001773	Short foot	-	OMIM:102370
2200	FBN1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2200	FBN1	HP:0001763	Pes planus	-	OMIM:616914
2200	FBN1	HP:0001763	Pes planus	HP:0040281	ORPHA:2462
2200	FBN1	HP:0001763	Pes planus	27/53	OMIM:154700
2200	FBN1	HP:0001763	Pes planus	1/7	OMIM:615777
2200	FBN1	HP:0001763	Pes planus	-	OMIM:182212
2200	FBN1	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
2200	FBN1	HP:0001765	Hammertoe	-	OMIM:154700
2200	FBN1	HP:0001783	Broad metatarsal	-	OMIM:608328
2200	FBN1	HP:0012418	Hypoxemia	HP:0040281	ORPHA:284979
2200	FBN1	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
2200	FBN1	HP:0000418	Narrow nasal ridge	-	OMIM:130050
2200	FBN1	HP:0000418	Narrow nasal ridge	1/1	OMIM:616914
2200	FBN1	HP:0000414	Bulbous nose	HP:0040282	ORPHA:969
2200	FBN1	HP:0000414	Bulbous nose	-	OMIM:102370
2200	FBN1	HP:0000411	Protruding ear	HP:0040283	ORPHA:2462
2200	FBN1	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
2200	FBN1	HP:0001762	Talipes equinovarus	-	OMIM:130050
2200	FBN1	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
2200	FBN1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:284979
2200	FBN1	HP:0001761	Pes cavus	49/146	OMIM:154700
2200	FBN1	HP:0000426	Prominent nasal bridge	1/1	OMIM:616914
2200	FBN1	HP:0000518	Cataract	HP:0040283	ORPHA:1885
2200	FBN1	HP:0000518	Cataract	2/8	OMIM:184900
2200	FBN1	HP:0000518	Cataract	-	OMIM:608328
2200	FBN1	HP:0000518	Cataract	HP:0040283	ORPHA:3449
2200	FBN1	HP:0000518	Cataract	118/199	OMIM:154700
2200	FBN1	HP:0001840	Metatarsus adductus	-	OMIM:121050
2200	FBN1	HP:0001840	Metatarsus adductus	-	OMIM:182212
2200	FBN1	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
2200	FBN1	HP:0001840	Metatarsus adductus	-	OMIM:615777
2200	FBN1	HP:0001842	Foot acroosteolysis	-	OMIM:130050
2200	FBN1	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
2200	FBN1	HP:0000527	Long eyelashes	HP:0040281	ORPHA:969
2200	FBN1	HP:0000527	Long eyelashes	-	OMIM:102370
2200	FBN1	HP:0000520	Proptosis	2/4	OMIM:131300
2200	FBN1	HP:0000520	Proptosis	2/2	OMIM:616914
2200	FBN1	HP:0000520	Proptosis	-	OMIM:187500
2200	FBN1	HP:0000520	Proptosis	HP:0040281	ORPHA:2462
2200	FBN1	HP:0000520	Proptosis	7/7	OMIM:615777
2200	FBN1	HP:0000520	Proptosis	29/37	OMIM:182212
2200	FBN1	HP:0000506	Telecanthus	HP:0040281	ORPHA:2462
2200	FBN1	HP:0000506	Telecanthus	-	OMIM:182212
2200	FBN1	HP:0000508	Ptosis	HP:0040282	ORPHA:2462
2200	FBN1	HP:0000508	Ptosis	16/37	OMIM:182212
2200	FBN1	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
2200	FBN1	HP:0000505	Visual impairment	HP:0040283	ORPHA:1885
2200	FBN1	HP:0000501	Glaucoma	HP:0040283	ORPHA:2833
2200	FBN1	HP:0000501	Glaucoma	-	OMIM:608328
2200	FBN1	HP:0000501	Glaucoma	HP:0040281	ORPHA:3449
2200	FBN1	HP:0000501	Glaucoma	6/43	OMIM:129600
2200	FBN1	HP:0000501	Glaucoma	29/625	OMIM:154700
2200	FBN1	HP:0000501	Glaucoma	HP:0040281	ORPHA:2084
2200	FBN1	HP:0000501	Glaucoma	HP:0040284	ORPHA:2623
2200	FBN1	HP:0000581	Blepharophimosis	-	OMIM:208050
2200	FBN1	HP:0000577	Exotropia	72/626	OMIM:154700
2200	FBN1	HP:0000594	Shallow anterior chamber	-	OMIM:608328
2200	FBN1	HP:0000594	Shallow anterior chamber	6/6	OMIM:129600
2200	FBN1	HP:0000592	Blue sclerae	HP:0040282	ORPHA:284979
2200	FBN1	HP:0000592	Blue sclerae	2/7	OMIM:615777
2200	FBN1	HP:0000586	Shallow orbits	13/37	OMIM:182212
2200	FBN1	HP:0000586	Shallow orbits	-	OMIM:608328
2200	FBN1	HP:0000563	Keratoconus	-	OMIM:130050
2200	FBN1	HP:0000563	Keratoconus	3/14	OMIM:208050
2200	FBN1	HP:0011222	Depressed glabella	1/1	OMIM:608328
2200	FBN1	HP:0011220	Prominent forehead	1/1	OMIM:616914
2200	FBN1	HP:0011220	Prominent forehead	17/37	OMIM:182212
2200	FBN1	HP:0000572	Visual loss	HP:0040283	ORPHA:3449
2200	FBN1	HP:0000565	Esotropia	12/573	OMIM:154700
2200	FBN1	HP:0000541	Retinal detachment	7/44	OMIM:129600
2200	FBN1	HP:0000541	Retinal detachment	-	OMIM:154700
2200	FBN1	HP:0000541	Retinal detachment	HP:0040283	ORPHA:2833
2200	FBN1	HP:0000540	Hypermetropia	HP:0040283	ORPHA:2623
2200	FBN1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2200	FBN1	HP:0000534	Abnormal eyebrow morphology	HP:0040281	ORPHA:969
2200	FBN1	HP:0001883	Talipes	13/53	OMIM:154700
2200	FBN1	HP:0012514	Lower limb pain	4/4	OMIM:131300
2200	FBN1	HP:0000545	Myopia	-	OMIM:121050
2200	FBN1	HP:0000545	Myopia	6/8	OMIM:184900
2200	FBN1	HP:0000545	Myopia	6/15	OMIM:208050
2200	FBN1	HP:0000545	Myopia	HP:0040283	ORPHA:2462
2200	FBN1	HP:0000545	Myopia	30/38	OMIM:129600
2200	FBN1	HP:0000545	Myopia	93/251	OMIM:154700
2200	FBN1	HP:0000545	Myopia	9/37	OMIM:182212
2200	FBN1	HP:0000545	Myopia	HP:0040283	ORPHA:2623
2201	FBN2	HP:0009901	Crumpled ear	90/119	OMIM:121050
2201	FBN2	HP:0009901	Crumpled ear	HP:0040281	ORPHA:115
2201	FBN2	HP:0001181	Adducted thumb	42/90	OMIM:121050
2201	FBN2	HP:0001166	Arachnodactyly	104/124	OMIM:121050
2201	FBN2	HP:0001166	Arachnodactyly	124/197	OMIM:154700
2201	FBN2	HP:0001166	Arachnodactyly	34/37	OMIM:182212
2201	FBN2	HP:0001166	Arachnodactyly	6/15	OMIM:208050
2201	FBN2	HP:0001166	Arachnodactyly	HP:0040281	ORPHA:115
2201	FBN2	HP:0008544	Abnormally folded helix	HP:0040281	ORPHA:115
2201	FBN2	HP:0003745	Sporadic	-	OMIM:182212
2201	FBN2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
2201	FBN2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2201	FBN2	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
2201	FBN2	HP:0001293	Cranial nerve compression	-	OMIM:131300
2201	FBN2	HP:0001290	Generalized hypotonia	-	OMIM:208050
2201	FBN2	HP:0001290	Generalized hypotonia	-	OMIM:182212
2201	FBN2	HP:0001270	Motor delay	-	OMIM:121050
2201	FBN2	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
2201	FBN2	HP:0001252	Hypotonia	2/7	OMIM:615777
2201	FBN2	HP:0001252	Hypotonia	26/37	OMIM:182212
2201	FBN2	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
2201	FBN2	HP:0001249	Intellectual disability	5/7	OMIM:615777
2201	FBN2	HP:0001249	Intellectual disability	-	OMIM:182212
2201	FBN2	HP:0001263	Global developmental delay	-	OMIM:615777
2201	FBN2	HP:0001263	Global developmental delay	-	OMIM:182212
2201	FBN2	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:115
2201	FBN2	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
2201	FBN2	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:115
2201	FBN2	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
2201	FBN2	HP:0002515	Waddling gait	54/102	OMIM:131300
2201	FBN2	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
2201	FBN2	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
2201	FBN2	HP:0000098	Tall stature	-	OMIM:154700
2201	FBN2	HP:0001377	Limited elbow extension	94/109	OMIM:121050
2201	FBN2	HP:0001377	Limited elbow extension	29/199	OMIM:154700
2201	FBN2	HP:0001371	Flexion contracture	-	OMIM:208050
2201	FBN2	HP:0001371	Flexion contracture	HP:0040281	ORPHA:115
2201	FBN2	HP:0001371	Flexion contracture	-	OMIM:154700
2201	FBN2	HP:0001387	Joint stiffness	HP:0040281	ORPHA:115
2201	FBN2	HP:0001382	Joint hypermobility	1/1	OMIM:130050
2201	FBN2	HP:0001382	Joint hypermobility	12/14	OMIM:208050
2201	FBN2	HP:0001382	Joint hypermobility	11/53	OMIM:154700
2201	FBN2	HP:0001382	Joint hypermobility	-	OMIM:615777
2201	FBN2	HP:0001382	Joint hypermobility	31/47	OMIM:182212
2201	FBN2	HP:0000023	Inguinal hernia	11/11	OMIM:130050
2201	FBN2	HP:0000023	Inguinal hernia	8/15	OMIM:208050
2201	FBN2	HP:0000023	Inguinal hernia	19/34	OMIM:182212
2201	FBN2	HP:0001363	Craniosynostosis	18/37	OMIM:182212
2201	FBN2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2201	FBN2	HP:0000028	Cryptorchidism	1/1	OMIM:130050
2201	FBN2	HP:0000028	Cryptorchidism	1/13	OMIM:182212
2201	FBN2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2201	FBN2	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
2201	FBN2	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
2201	FBN2	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
2201	FBN2	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
2201	FBN2	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
2201	FBN2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2201	FBN2	HP:0001324	Muscle weakness	40/96	OMIM:131300
2201	FBN2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2201	FBN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
2201	FBN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2201	FBN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
2201	FBN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
2201	FBN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616118
2201	FBN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
2201	FBN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
2201	FBN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2201	FBN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
2201	FBN2	HP:0002650	Scoliosis	HP:0040281	ORPHA:115
2201	FBN2	HP:0002650	Scoliosis	16/53	OMIM:154700
2201	FBN2	HP:0002650	Scoliosis	11/15	OMIM:121050
2201	FBN2	HP:0002650	Scoliosis	12/14	OMIM:131300
2201	FBN2	HP:0002650	Scoliosis	3/15	OMIM:208050
2201	FBN2	HP:0002650	Scoliosis	23/37	OMIM:182212
2201	FBN2	HP:0002647	Aortic dissection	1/58	OMIM:154700
2201	FBN2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2201	FBN2	HP:0002619	Varicose veins	-	OMIM:130050
2201	FBN2	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
2201	FBN2	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
2201	FBN2	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
2201	FBN2	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
2201	FBN2	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
2201	FBN2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2201	FBN2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2201	FBN2	HP:0000189	Narrow palate	-	OMIM:182212
2201	FBN2	HP:0000189	Narrow palate	-	OMIM:154700
2201	FBN2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2201	FBN2	HP:0000193	Bifid uvula	0/14	OMIM:208050
2201	FBN2	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
2201	FBN2	HP:0012151	Hemothorax	3/4	OMIM:130050
2201	FBN2	HP:0000175	Cleft palate	2/7	OMIM:615777
2201	FBN2	HP:0000139	Uterine prolapse	-	OMIM:130050
2201	FBN2	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
2201	FBN2	HP:0007663	Reduced visual acuity	-	OMIM:616118
2201	FBN2	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
2201	FBN2	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
2201	FBN2	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
2201	FBN2	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
2201	FBN2	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
2201	FBN2	HP:0002036	Hiatus hernia	-	OMIM:208050
2201	FBN2	HP:0002007	Frontal bossing	-	OMIM:121050
2201	FBN2	HP:0002007	Frontal bossing	-	OMIM:182212
2201	FBN2	HP:0003302	Spondylolisthesis	-	OMIM:154700
2201	FBN2	HP:0002097	Emphysema	8/9	OMIM:130050
2201	FBN2	HP:0002097	Emphysema	HP:0040283	OMIM:154700
2201	FBN2	HP:0030961	Microspherophakia	2/53	OMIM:154700
2201	FBN2	HP:0003388	Easy fatigability	36/76	OMIM:131300
2201	FBN2	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
2201	FBN2	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
2201	FBN2	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
2201	FBN2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2201	FBN2	HP:0010499	Patellar subluxation	12/22	OMIM:121050
2201	FBN2	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
2201	FBN2	HP:0002140	Ischemic stroke	-	OMIM:208050
2201	FBN2	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
2201	FBN2	HP:0002107	Pneumothorax	2/2	OMIM:130050
2201	FBN2	HP:0002107	Pneumothorax	6/53	OMIM:154700
2201	FBN2	HP:0002105	Hemoptysis	6/10	OMIM:130050
2201	FBN2	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
2201	FBN2	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:115
2201	FBN2	HP:0011842	Abnormal skeletal morphology	0/4	OMIM:616118
2201	FBN2	HP:0003593	Infantile onset	5/16	OMIM:208050
2201	FBN2	HP:0003577	Congenital onset	5/5	OMIM:121050
2201	FBN2	HP:0003577	Congenital onset	12/26	OMIM:208050
2201	FBN2	HP:0100718	Uterine rupture	-	OMIM:130050
2201	FBN2	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:115
2201	FBN2	HP:0004872	Incisional hernia	-	OMIM:154700
2201	FBN2	HP:0100775	Dural ectasia	112/140	OMIM:154700
2201	FBN2	HP:0100749	Chest pain	1/2	OMIM:130050
2201	FBN2	HP:0002293	Alopecia of scalp	-	OMIM:130050
2201	FBN2	HP:0034671	Knee contracture	7/14	OMIM:121050
2201	FBN2	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
2201	FBN2	HP:0010648	Dermal translucency	3/3	OMIM:130050
2201	FBN2	HP:0003510	Severe short stature	7/7	OMIM:615777
2201	FBN2	HP:0007099	Chiari type I malformation	-	OMIM:182212
2201	FBN2	HP:0025019	Arterial rupture	-	OMIM:130050
2201	FBN2	HP:0001065	Striae distensae	11/53	OMIM:154700
2201	FBN2	HP:0001030	Fragile skin	-	OMIM:130050
2201	FBN2	HP:0001027	Soft, doughy skin	-	OMIM:208050
2201	FBN2	HP:0002315	Headache	-	OMIM:131300
2201	FBN2	HP:0004976	Knee dislocation	6/7	OMIM:615777
2201	FBN2	HP:0100645	Cystocele	-	OMIM:130050
2201	FBN2	HP:0001073	Cigarette-paper scars	-	OMIM:130050
2201	FBN2	HP:0009803	Short phalanx of finger	-	OMIM:615777
2201	FBN2	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
2201	FBN2	HP:0001083	Ectopia lentis	119/251	OMIM:154700
2201	FBN2	HP:0001083	Ectopia lentis	HP:0040283	ORPHA:115
2201	FBN2	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
2201	FBN2	HP:0008453	Congenital kyphoscoliosis	HP:0040281	ORPHA:115
2201	FBN2	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
2201	FBN2	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
2201	FBN2	HP:0009763	Limb pain	63/92	OMIM:131300
2201	FBN2	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
2201	FBN2	HP:0003623	Neonatal onset	3/16	OMIM:208050
2201	FBN2	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
2201	FBN2	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
2201	FBN2	HP:0003621	Juvenile onset	-	OMIM:131300
2201	FBN2	HP:0003621	Juvenile onset	2/16	OMIM:208050
2201	FBN2	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
2201	FBN2	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
2201	FBN2	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:115
2201	FBN2	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
2201	FBN2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2201	FBN2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
2201	FBN2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2201	FBN2	HP:6001056	Out-toeing	-	OMIM:131300
2201	FBN2	HP:0000651	Diplopia	-	OMIM:131300
2201	FBN2	HP:0001977	Abnormal thrombosis	-	OMIM:208050
2201	FBN2	HP:0001956	Truncal obesity	2/7	OMIM:615777
2201	FBN2	HP:0000608	Macular degeneration	4/4	OMIM:616118
2201	FBN2	HP:0001903	Anemia	1/1	OMIM:130050
2201	FBN2	HP:0001903	Anemia	HP:0040283	OMIM:131300
2201	FBN2	HP:0010049	Short metacarpal	-	OMIM:615777
2201	FBN2	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
2201	FBN2	HP:0000678	Dental crowding	8/53	OMIM:154700
2201	FBN2	HP:0000678	Dental crowding	-	OMIM:615777
2201	FBN2	HP:0000689	Dental malocclusion	-	OMIM:182212
2201	FBN2	HP:0000670	Carious teeth	-	OMIM:131300
2201	FBN2	HP:0011304	Broad thumb	2/7	OMIM:615777
2201	FBN2	HP:0000668	Hypodontia	-	OMIM:615777
2201	FBN2	HP:0000664	Synophrys	-	OMIM:615777
2201	FBN2	HP:0004322	Short stature	-	OMIM:130050
2201	FBN2	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
2201	FBN2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:115
2201	FBN2	HP:0003088	Premature osteoarthritis	-	OMIM:154700
2201	FBN2	HP:0003083	Dislocated radial head	5/37	OMIM:182212
2201	FBN2	HP:0003066	Limited knee extension	38/45	OMIM:121050
2201	FBN2	HP:0004396	Poor appetite	-	OMIM:131300
2201	FBN2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2201	FBN2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2201	FBN2	HP:0003042	Elbow dislocation	1/12	OMIM:121050
2201	FBN2	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
2201	FBN2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2201	FBN2	HP:0003011	Abnormality of the musculature	HP:0040281	ORPHA:115
2201	FBN2	HP:0003026	Short long bone	7/7	OMIM:615777
2201	FBN2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2201	FBN2	HP:0005684	Distal arthrogryposis	-	OMIM:121050
2201	FBN2	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
2201	FBN2	HP:0000767	Pectus excavatum	2/14	OMIM:121050
2201	FBN2	HP:0000767	Pectus excavatum	1/4	OMIM:130050
2201	FBN2	HP:0000767	Pectus excavatum	3/15	OMIM:208050
2201	FBN2	HP:0000767	Pectus excavatum	44/146	OMIM:154700
2201	FBN2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2201	FBN2	HP:0000767	Pectus excavatum	-	OMIM:182212
2201	FBN2	HP:0000768	Pectus carinatum	4/14	OMIM:121050
2201	FBN2	HP:0000768	Pectus carinatum	2/15	OMIM:208050
2201	FBN2	HP:0000768	Pectus carinatum	58/146	OMIM:154700
2201	FBN2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2201	FBN2	HP:0000768	Pectus carinatum	-	OMIM:182212
2201	FBN2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2201	FBN2	HP:0000750	Delayed speech and language development	-	OMIM:615777
2201	FBN2	HP:0000704	Periodontitis	-	OMIM:130050
2201	FBN2	HP:0011463	Childhood onset	1/16	OMIM:208050
2201	FBN2	HP:0011462	Young adult onset	3/16	OMIM:208050
2201	FBN2	HP:0011461	Fetal onset	7/7	OMIM:615777
2201	FBN2	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
2201	FBN2	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
2201	FBN2	HP:0000774	Narrow chest	2/7	OMIM:615777
2201	FBN2	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
2201	FBN2	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
2201	FBN2	HP:0030799	Scaphocephaly	-	OMIM:121050
2201	FBN2	HP:0003199	Decreased muscle mass	-	OMIM:154700
2201	FBN2	HP:0000926	Platyspondyly	1/7	OMIM:615777
2201	FBN2	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
2201	FBN2	HP:0003180	Flat acetabular roof	-	OMIM:615777
2201	FBN2	HP:0004482	Relative macrocephaly	-	OMIM:615777
2201	FBN2	HP:0004467	Preauricular pit	-	OMIM:187500
2201	FBN2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2201	FBN2	HP:0000883	Thin ribs	-	OMIM:182212
2201	FBN2	HP:0011506	Choroidal neovascularization	1/4	OMIM:616118
2201	FBN2	HP:0000822	Hypertension	-	OMIM:208050
2201	FBN2	HP:0000823	Delayed puberty	-	OMIM:131300
2201	FBN2	HP:0000895	Lateral clavicle hook	-	OMIM:182212
2201	FBN2	HP:0000894	Short clavicles	-	OMIM:615777
2201	FBN2	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
2201	FBN2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2201	FBN2	HP:0034391	Elbow contracture	10/14	OMIM:121050
2201	FBN2	HP:0003273	Hip contracture	32/121	OMIM:121050
2201	FBN2	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
2201	FBN2	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
2201	FBN2	HP:0000978	Bruising susceptibility	-	OMIM:208050
2201	FBN2	HP:0000977	Soft skin	7/15	OMIM:208050
2201	FBN2	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
2201	FBN2	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
2201	FBN2	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
2201	FBN2	HP:0000973	Cutis laxa	5/14	OMIM:208050
2201	FBN2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2201	FBN2	HP:0000963	Thin skin	4/13	OMIM:208050
2201	FBN2	HP:0000938	Osteopenia	-	OMIM:121050
2201	FBN2	HP:0000938	Osteopenia	-	OMIM:182212
2201	FBN2	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
2201	FBN2	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
2201	FBN2	HP:0000286	Epicanthus	1/7	OMIM:615777
2201	FBN2	HP:0025586	Hypertropia	8/573	OMIM:154700
2201	FBN2	HP:0000280	Coarse facial features	2/7	OMIM:615777
2201	FBN2	HP:0000278	Retrognathia	-	OMIM:154700
2201	FBN2	HP:0000260	Wide anterior fontanel	-	OMIM:182212
2201	FBN2	HP:0000275	Narrow face	-	OMIM:154700
2201	FBN2	HP:0000276	Long face	14/14	OMIM:208050
2201	FBN2	HP:0000276	Long face	-	OMIM:154700
2201	FBN2	HP:0000272	Malar flattening	9/14	OMIM:208050
2201	FBN2	HP:0000272	Malar flattening	31/53	OMIM:154700
2201	FBN2	HP:0000268	Dolichocephaly	-	OMIM:121050
2201	FBN2	HP:0000268	Dolichocephaly	36/53	OMIM:154700
2201	FBN2	HP:0000268	Dolichocephaly	28/37	OMIM:182212
2201	FBN2	HP:0005136	Mitral annular calcification	-	OMIM:154700
2201	FBN2	HP:0002816	Genu recurvatum	-	OMIM:182212
2201	FBN2	HP:0002816	Genu recurvatum	-	OMIM:154700
2201	FBN2	HP:0002827	Hip dislocation	3/7	OMIM:615777
2201	FBN2	HP:0002803	Congenital contracture	HP:0040281	ORPHA:115
2201	FBN2	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:115
2201	FBN2	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
2201	FBN2	HP:0000244	Brachyturricephaly	-	OMIM:182212
2201	FBN2	HP:0000238	Hydrocephalus	13/37	OMIM:182212
2201	FBN2	HP:0000252	Microcephaly	-	OMIM:615777
2201	FBN2	HP:0000252	Microcephaly	6/37	OMIM:182212
2201	FBN2	HP:0000248	Brachycephaly	-	OMIM:121050
2201	FBN2	HP:0000218	High palate	HP:0040281	ORPHA:115
2201	FBN2	HP:0000218	High palate	34/53	OMIM:154700
2201	FBN2	HP:0000218	High palate	30/102	OMIM:121050
2201	FBN2	HP:0000218	High palate	5/13	OMIM:208050
2201	FBN2	HP:0000218	High palate	30/37	OMIM:182212
2201	FBN2	HP:0000233	Thin vermilion border	-	OMIM:130050
2201	FBN2	HP:0030009	Cervical insufficiency	-	OMIM:130050
2201	FBN2	HP:0002857	Genu valgum	-	OMIM:131300
2201	FBN2	HP:0002857	Genu valgum	4/37	OMIM:182212
2201	FBN2	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
2201	FBN2	HP:0001537	Umbilical hernia	-	OMIM:208050
2201	FBN2	HP:0001537	Umbilical hernia	13/37	OMIM:182212
2201	FBN2	HP:0001533	Slender build	-	OMIM:131300
2201	FBN2	HP:0001533	Slender build	HP:0040281	ORPHA:115
2201	FBN2	HP:0031364	Ecchymosis	-	OMIM:130050
2201	FBN2	HP:0001519	Disproportionate tall stature	-	OMIM:121050
2201	FBN2	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
2201	FBN2	HP:0001519	Disproportionate tall stature	HP:0040282	ORPHA:115
2201	FBN2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2201	FBN2	HP:0007807	Optic nerve compression	-	OMIM:131300
2201	FBN2	HP:0007800	Increased axial length of the globe	-	OMIM:154700
2201	FBN2	HP:0012385	Camptodactyly	86/110	OMIM:121050
2201	FBN2	HP:0012385	Camptodactyly	19/53	OMIM:154700
2201	FBN2	HP:0012385	Camptodactyly	24/37	OMIM:182212
2201	FBN2	HP:0000387	Absent earlobe	-	OMIM:130050
2201	FBN2	HP:0012368	Flat face	7/7	OMIM:615777
2201	FBN2	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
2201	FBN2	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
2201	FBN2	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
2201	FBN2	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
2201	FBN2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2201	FBN2	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
2201	FBN2	HP:0006480	Premature loss of teeth	-	OMIM:130050
2201	FBN2	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
2201	FBN2	HP:0000365	Hearing impairment	10/67	OMIM:131300
2201	FBN2	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
2201	FBN2	HP:0000369	Low-set ears	32/37	OMIM:182212
2201	FBN2	HP:0000343	Long philtrum	-	OMIM:208050
2201	FBN2	HP:0000343	Long philtrum	1/7	OMIM:615777
2201	FBN2	HP:0011001	Increased bone mineral density	-	OMIM:131300
2201	FBN2	HP:0000337	Broad forehead	-	OMIM:187500
2201	FBN2	HP:0002999	Patellar dislocation	2/20	OMIM:121050
2201	FBN2	HP:0000347	Micrognathia	-	OMIM:154700
2201	FBN2	HP:0000347	Micrognathia	26/94	OMIM:121050
2201	FBN2	HP:0000347	Micrognathia	5/14	OMIM:208050
2201	FBN2	HP:0000347	Micrognathia	33/37	OMIM:182212
2201	FBN2	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
2201	FBN2	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
2201	FBN2	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
2201	FBN2	HP:0000316	Hypertelorism	6/16	OMIM:208050
2201	FBN2	HP:0000316	Hypertelorism	28/37	OMIM:182212
2201	FBN2	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
2201	FBN2	HP:0000311	Round face	2/7	OMIM:615777
2201	FBN2	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
2201	FBN2	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
2201	FBN2	HP:0001659	Aortic regurgitation	-	OMIM:208050
2201	FBN2	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
2201	FBN2	HP:0001653	Mitral regurgitation	-	OMIM:121050
2201	FBN2	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
2201	FBN2	HP:0001629	Ventricular septal defect	-	OMIM:121050
2201	FBN2	HP:0002970	Genu varum	-	OMIM:615777
2201	FBN2	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
2201	FBN2	HP:0001635	Congestive heart failure	-	OMIM:154700
2201	FBN2	HP:0001631	Atrial septal defect	-	OMIM:121050
2201	FBN2	HP:0000303	Mandibular prognathia	-	OMIM:131300
2201	FBN2	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
2201	FBN2	HP:0001634	Mitral valve prolapse	-	OMIM:130050
2201	FBN2	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
2201	FBN2	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
2201	FBN2	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:115
2201	FBN2	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
2201	FBN2	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
2201	FBN2	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
2201	FBN2	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
2201	FBN2	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
2201	FBN2	HP:0000400	Macrotia	7/15	OMIM:208050
2201	FBN2	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
2201	FBN2	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
2201	FBN2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2201	FBN2	HP:0000483	Astigmatism	3/53	OMIM:154700
2201	FBN2	HP:0000483	Astigmatism	5/15	OMIM:208050
2201	FBN2	HP:0000486	Strabismus	110/573	OMIM:154700
2201	FBN2	HP:0000486	Strabismus	17/37	OMIM:182212
2201	FBN2	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
2201	FBN2	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
2201	FBN2	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
2201	FBN2	HP:0000490	Deeply set eye	25/63	OMIM:154700
2201	FBN2	HP:0000463	Anteverted nares	9/37	OMIM:182212
2201	FBN2	HP:0001786	Narrow foot	33/53	OMIM:154700
2201	FBN2	HP:0000470	Short neck	-	OMIM:121050
2201	FBN2	HP:0000470	Short neck	1/7	OMIM:615777
2201	FBN2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2201	FBN2	HP:0001763	Pes planus	27/53	OMIM:154700
2201	FBN2	HP:0001763	Pes planus	1/7	OMIM:615777
2201	FBN2	HP:0001763	Pes planus	-	OMIM:182212
2201	FBN2	HP:0001765	Hammertoe	-	OMIM:154700
2201	FBN2	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
2201	FBN2	HP:0000418	Narrow nasal ridge	-	OMIM:130050
2201	FBN2	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
2201	FBN2	HP:0001762	Talipes equinovarus	-	OMIM:130050
2201	FBN2	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
2201	FBN2	HP:0001761	Pes cavus	49/146	OMIM:154700
2201	FBN2	HP:0000518	Cataract	118/199	OMIM:154700
2201	FBN2	HP:0001840	Metatarsus adductus	-	OMIM:121050
2201	FBN2	HP:0001840	Metatarsus adductus	-	OMIM:182212
2201	FBN2	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
2201	FBN2	HP:0001840	Metatarsus adductus	-	OMIM:615777
2201	FBN2	HP:0001842	Foot acroosteolysis	-	OMIM:130050
2201	FBN2	HP:0000520	Proptosis	2/4	OMIM:131300
2201	FBN2	HP:0000520	Proptosis	-	OMIM:187500
2201	FBN2	HP:0000520	Proptosis	7/7	OMIM:615777
2201	FBN2	HP:0000520	Proptosis	29/37	OMIM:182212
2201	FBN2	HP:0000506	Telecanthus	-	OMIM:182212
2201	FBN2	HP:0000508	Ptosis	16/37	OMIM:182212
2201	FBN2	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
2201	FBN2	HP:0000501	Glaucoma	29/625	OMIM:154700
2201	FBN2	HP:0000581	Blepharophimosis	-	OMIM:208050
2201	FBN2	HP:0000577	Exotropia	72/626	OMIM:154700
2201	FBN2	HP:0000592	Blue sclerae	2/7	OMIM:615777
2201	FBN2	HP:0000586	Shallow orbits	13/37	OMIM:182212
2201	FBN2	HP:0000563	Keratoconus	-	OMIM:130050
2201	FBN2	HP:0000563	Keratoconus	3/14	OMIM:208050
2201	FBN2	HP:0011220	Prominent forehead	17/37	OMIM:182212
2201	FBN2	HP:0000565	Esotropia	12/573	OMIM:154700
2201	FBN2	HP:0000541	Retinal detachment	-	OMIM:154700
2201	FBN2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2201	FBN2	HP:0001883	Talipes	13/53	OMIM:154700
2201	FBN2	HP:0012514	Lower limb pain	4/4	OMIM:131300
2201	FBN2	HP:0000545	Myopia	-	OMIM:121050
2201	FBN2	HP:0000545	Myopia	6/15	OMIM:208050
2201	FBN2	HP:0000545	Myopia	93/251	OMIM:154700
2201	FBN2	HP:0000545	Myopia	9/37	OMIM:182212
2202	EFEMP1	HP:0009901	Crumpled ear	90/119	OMIM:121050
2202	EFEMP1	HP:0001181	Adducted thumb	42/90	OMIM:121050
2202	EFEMP1	HP:0001166	Arachnodactyly	3/3	OMIM:620780
2202	EFEMP1	HP:0001166	Arachnodactyly	104/124	OMIM:121050
2202	EFEMP1	HP:0001166	Arachnodactyly	124/197	OMIM:154700
2202	EFEMP1	HP:0001166	Arachnodactyly	34/37	OMIM:182212
2202	EFEMP1	HP:0001166	Arachnodactyly	6/15	OMIM:208050
2202	EFEMP1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
2202	EFEMP1	HP:0001138	Optic neuropathy	HP:0040282	ORPHA:98977
2202	EFEMP1	HP:0001123	Visual field defect	5/5	OMIM:611276
2202	EFEMP1	HP:0025193	Posterolateral diaphragmatic hernia	1/2	OMIM:620780
2202	EFEMP1	HP:0009890	High anterior hairline	1/1	OMIM:620780
2202	EFEMP1	HP:0003745	Sporadic	-	OMIM:182212
2202	EFEMP1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
2202	EFEMP1	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
2202	EFEMP1	HP:0001290	Generalized hypotonia	-	OMIM:208050
2202	EFEMP1	HP:0001290	Generalized hypotonia	-	OMIM:182212
2202	EFEMP1	HP:0100808	Gastric diverticulum	2/2	OMIM:620780
2202	EFEMP1	HP:0001270	Motor delay	-	OMIM:121050
2202	EFEMP1	HP:0100822	Rectocele	1/1	OMIM:620780
2202	EFEMP1	HP:0002580	Volvulus	1/4	OMIM:620780
2202	EFEMP1	HP:0001252	Hypotonia	2/4	OMIM:620780
2202	EFEMP1	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
2202	EFEMP1	HP:0001252	Hypotonia	26/37	OMIM:182212
2202	EFEMP1	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
2202	EFEMP1	HP:0001249	Intellectual disability	-	OMIM:182212
2202	EFEMP1	HP:0001263	Global developmental delay	-	OMIM:182212
2202	EFEMP1	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
2202	EFEMP1	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
2202	EFEMP1	HP:0007401	Macular atrophy	HP:0040283	ORPHA:75376
2202	EFEMP1	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
2202	EFEMP1	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
2202	EFEMP1	HP:0000098	Tall stature	3/4	OMIM:620780
2202	EFEMP1	HP:0000098	Tall stature	-	OMIM:154700
2202	EFEMP1	HP:0001377	Limited elbow extension	94/109	OMIM:121050
2202	EFEMP1	HP:0001377	Limited elbow extension	29/199	OMIM:154700
2202	EFEMP1	HP:0001371	Flexion contracture	-	OMIM:208050
2202	EFEMP1	HP:0001371	Flexion contracture	-	OMIM:154700
2202	EFEMP1	HP:0001382	Joint hypermobility	4/4	OMIM:620780
2202	EFEMP1	HP:0001382	Joint hypermobility	1/1	OMIM:130050
2202	EFEMP1	HP:0001382	Joint hypermobility	12/14	OMIM:208050
2202	EFEMP1	HP:0001382	Joint hypermobility	11/53	OMIM:154700
2202	EFEMP1	HP:0001382	Joint hypermobility	31/47	OMIM:182212
2202	EFEMP1	HP:0025326	Retinal arterial occlusion	HP:0040284	ORPHA:98977
2202	EFEMP1	HP:0000023	Inguinal hernia	4/4	OMIM:620780
2202	EFEMP1	HP:0000023	Inguinal hernia	11/11	OMIM:130050
2202	EFEMP1	HP:0000023	Inguinal hernia	8/15	OMIM:208050
2202	EFEMP1	HP:0000023	Inguinal hernia	19/34	OMIM:182212
2202	EFEMP1	HP:0000015	Bladder diverticulum	3/4	OMIM:620780
2202	EFEMP1	HP:0001363	Craniosynostosis	18/37	OMIM:182212
2202	EFEMP1	HP:0000028	Cryptorchidism	1/1	OMIM:130050
2202	EFEMP1	HP:0000028	Cryptorchidism	1/13	OMIM:182212
2202	EFEMP1	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
2202	EFEMP1	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
2202	EFEMP1	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
2202	EFEMP1	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
2202	EFEMP1	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
2202	EFEMP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
2202	EFEMP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
2202	EFEMP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620780
2202	EFEMP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
2202	EFEMP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:126600
2202	EFEMP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
2202	EFEMP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
2202	EFEMP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:611276
2202	EFEMP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
2202	EFEMP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
2202	EFEMP1	HP:0002650	Scoliosis	16/53	OMIM:154700
2202	EFEMP1	HP:0002650	Scoliosis	11/15	OMIM:121050
2202	EFEMP1	HP:0002650	Scoliosis	2/4	OMIM:620780
2202	EFEMP1	HP:0002650	Scoliosis	3/15	OMIM:208050
2202	EFEMP1	HP:0002650	Scoliosis	23/37	OMIM:182212
2202	EFEMP1	HP:0002647	Aortic dissection	1/58	OMIM:154700
2202	EFEMP1	HP:0002619	Varicose veins	-	OMIM:130050
2202	EFEMP1	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
2202	EFEMP1	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
2202	EFEMP1	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
2202	EFEMP1	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
2202	EFEMP1	HP:0032446	Pulmonary bulla	1/4	OMIM:620780
2202	EFEMP1	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
2202	EFEMP1	HP:0000189	Narrow palate	1/1	OMIM:620780
2202	EFEMP1	HP:0000189	Narrow palate	-	OMIM:182212
2202	EFEMP1	HP:0000189	Narrow palate	-	OMIM:154700
2202	EFEMP1	HP:0000193	Bifid uvula	0/14	OMIM:208050
2202	EFEMP1	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
2202	EFEMP1	HP:0012151	Hemothorax	3/4	OMIM:130050
2202	EFEMP1	HP:0000139	Uterine prolapse	-	OMIM:130050
2202	EFEMP1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
2202	EFEMP1	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
2202	EFEMP1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
2202	EFEMP1	HP:0007663	Reduced visual acuity	-	OMIM:611276
2202	EFEMP1	HP:0007651	Ectropion of lower eyelids	3/3	OMIM:620780
2202	EFEMP1	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
2202	EFEMP1	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
2202	EFEMP1	HP:0012108	Open angle glaucoma	5/5	OMIM:611276
2202	EFEMP1	HP:0012108	Open angle glaucoma	HP:0040282	ORPHA:98977
2202	EFEMP1	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
2202	EFEMP1	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
2202	EFEMP1	HP:0002714	Downturned corners of mouth	1/1	OMIM:620780
2202	EFEMP1	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
2202	EFEMP1	HP:0002036	Hiatus hernia	-	OMIM:208050
2202	EFEMP1	HP:0002035	Rectal prolapse	1/1	OMIM:620780
2202	EFEMP1	HP:0002007	Frontal bossing	-	OMIM:121050
2202	EFEMP1	HP:0002007	Frontal bossing	-	OMIM:182212
2202	EFEMP1	HP:0003302	Spondylolisthesis	-	OMIM:154700
2202	EFEMP1	HP:0100541	Femoral hernia	1/1	OMIM:620780
2202	EFEMP1	HP:0002097	Emphysema	8/9	OMIM:130050
2202	EFEMP1	HP:0002097	Emphysema	HP:0040283	OMIM:154700
2202	EFEMP1	HP:0030961	Microspherophakia	2/53	OMIM:154700
2202	EFEMP1	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
2202	EFEMP1	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
2202	EFEMP1	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
2202	EFEMP1	HP:0010499	Patellar subluxation	12/22	OMIM:121050
2202	EFEMP1	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
2202	EFEMP1	HP:0002140	Ischemic stroke	-	OMIM:208050
2202	EFEMP1	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
2202	EFEMP1	HP:0002107	Pneumothorax	2/2	OMIM:130050
2202	EFEMP1	HP:0002107	Pneumothorax	6/53	OMIM:154700
2202	EFEMP1	HP:0002105	Hemoptysis	6/10	OMIM:130050
2202	EFEMP1	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
2202	EFEMP1	HP:0003593	Infantile onset	1/1	OMIM:620780
2202	EFEMP1	HP:0003593	Infantile onset	5/16	OMIM:208050
2202	EFEMP1	HP:0003577	Congenital onset	5/5	OMIM:121050
2202	EFEMP1	HP:0003577	Congenital onset	1/1	OMIM:620780
2202	EFEMP1	HP:0003577	Congenital onset	12/26	OMIM:208050
2202	EFEMP1	HP:0002253	Colonic diverticula	2/2	OMIM:620780
2202	EFEMP1	HP:0003581	Adult onset	5/5	OMIM:611276
2202	EFEMP1	HP:0100718	Uterine rupture	-	OMIM:130050
2202	EFEMP1	HP:0004872	Incisional hernia	-	OMIM:154700
2202	EFEMP1	HP:0100775	Dural ectasia	112/140	OMIM:154700
2202	EFEMP1	HP:0100775	Dural ectasia	1/1	OMIM:620780
2202	EFEMP1	HP:0100749	Chest pain	1/2	OMIM:130050
2202	EFEMP1	HP:0002293	Alopecia of scalp	-	OMIM:130050
2202	EFEMP1	HP:0034671	Knee contracture	7/14	OMIM:121050
2202	EFEMP1	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
2202	EFEMP1	HP:0010648	Dermal translucency	3/3	OMIM:130050
2202	EFEMP1	HP:0010648	Dermal translucency	1/1	OMIM:620780
2202	EFEMP1	HP:0007099	Chiari type I malformation	-	OMIM:182212
2202	EFEMP1	HP:0025019	Arterial rupture	-	OMIM:130050
2202	EFEMP1	HP:0001065	Striae distensae	11/53	OMIM:154700
2202	EFEMP1	HP:0001030	Fragile skin	-	OMIM:130050
2202	EFEMP1	HP:0001027	Soft, doughy skin	-	OMIM:208050
2202	EFEMP1	HP:0100645	Cystocele	-	OMIM:130050
2202	EFEMP1	HP:0010811	Narrow uvula	2/2	OMIM:620780
2202	EFEMP1	HP:0001073	Cigarette-paper scars	-	OMIM:130050
2202	EFEMP1	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
2202	EFEMP1	HP:0001083	Ectopia lentis	119/251	OMIM:154700
2202	EFEMP1	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
2202	EFEMP1	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
2202	EFEMP1	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
2202	EFEMP1	HP:0010749	Blepharochalasis	1/1	OMIM:620780
2202	EFEMP1	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
2202	EFEMP1	HP:0003623	Neonatal onset	3/16	OMIM:208050
2202	EFEMP1	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
2202	EFEMP1	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
2202	EFEMP1	HP:0003621	Juvenile onset	8/19	OMIM:180100
2202	EFEMP1	HP:0003621	Juvenile onset	2/16	OMIM:208050
2202	EFEMP1	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
2202	EFEMP1	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
2202	EFEMP1	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
2202	EFEMP1	HP:0030500	Yellow/white lesions of the macula	HP:0040280	ORPHA:75376
2202	EFEMP1	HP:0030528	Paracentral scotoma	HP:0040283	ORPHA:75376
2202	EFEMP1	HP:0001977	Abnormal thrombosis	-	OMIM:208050
2202	EFEMP1	HP:0000613	Photophobia	HP:0040283	ORPHA:75376
2202	EFEMP1	HP:0000603	Central scotoma	HP:0040284	ORPHA:98977
2202	EFEMP1	HP:0001903	Anemia	1/1	OMIM:130050
2202	EFEMP1	HP:0030499	Macular drusen	HP:0040280	ORPHA:75376
2202	EFEMP1	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
2202	EFEMP1	HP:0000678	Dental crowding	3/4	OMIM:620780
2202	EFEMP1	HP:0000678	Dental crowding	8/53	OMIM:154700
2202	EFEMP1	HP:0000689	Dental malocclusion	1/1	OMIM:620780
2202	EFEMP1	HP:0000689	Dental malocclusion	-	OMIM:182212
2202	EFEMP1	HP:0000662	Nyctalopia	26/28	OMIM:180100
2202	EFEMP1	HP:0012636	Retinal vein occlusion	HP:0040284	ORPHA:98977
2202	EFEMP1	HP:0004322	Short stature	-	OMIM:130050
2202	EFEMP1	HP:0030629	Perifoveal ring of hyperautofluorescence	HP:0040282	ORPHA:75376
2202	EFEMP1	HP:0030632	Hypoautofluorescent macular lesion	HP:0040282	ORPHA:75376
2202	EFEMP1	HP:0030631	Hyperautofluorescent macular lesion	HP:0040282	ORPHA:75376
2202	EFEMP1	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
2202	EFEMP1	HP:0005616	Accelerated skeletal maturation	3/3	OMIM:620780
2202	EFEMP1	HP:0003088	Premature osteoarthritis	-	OMIM:154700
2202	EFEMP1	HP:0003083	Dislocated radial head	5/37	OMIM:182212
2202	EFEMP1	HP:0003066	Limited knee extension	38/45	OMIM:121050
2202	EFEMP1	HP:0003042	Elbow dislocation	1/12	OMIM:121050
2202	EFEMP1	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
2202	EFEMP1	HP:0005684	Distal arthrogryposis	-	OMIM:121050
2202	EFEMP1	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
2202	EFEMP1	HP:0100018	Nuclear cataract	2/5	OMIM:611276
2202	EFEMP1	HP:0000767	Pectus excavatum	2/14	OMIM:121050
2202	EFEMP1	HP:0000767	Pectus excavatum	3/4	OMIM:620780
2202	EFEMP1	HP:0000767	Pectus excavatum	1/4	OMIM:130050
2202	EFEMP1	HP:0000767	Pectus excavatum	3/15	OMIM:208050
2202	EFEMP1	HP:0000767	Pectus excavatum	44/146	OMIM:154700
2202	EFEMP1	HP:0000767	Pectus excavatum	-	OMIM:182212
2202	EFEMP1	HP:0000768	Pectus carinatum	4/14	OMIM:121050
2202	EFEMP1	HP:0000768	Pectus carinatum	2/15	OMIM:208050
2202	EFEMP1	HP:0000768	Pectus carinatum	58/146	OMIM:154700
2202	EFEMP1	HP:0000768	Pectus carinatum	-	OMIM:182212
2202	EFEMP1	HP:0000704	Periodontitis	-	OMIM:130050
2202	EFEMP1	HP:0012796	Increased cup-to-disc ratio	-	OMIM:611276
2202	EFEMP1	HP:0012796	Increased cup-to-disc ratio	HP:0040283	ORPHA:98977
2202	EFEMP1	HP:0011463	Childhood onset	3/19	OMIM:180100
2202	EFEMP1	HP:0011463	Childhood onset	1/16	OMIM:208050
2202	EFEMP1	HP:0011462	Young adult onset	8/19	OMIM:180100
2202	EFEMP1	HP:0011462	Young adult onset	3/16	OMIM:208050
2202	EFEMP1	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
2202	EFEMP1	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
2202	EFEMP1	HP:0000776	Congenital diaphragmatic hernia	2/2	OMIM:620780
2202	EFEMP1	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
2202	EFEMP1	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
2202	EFEMP1	HP:0030799	Scaphocephaly	-	OMIM:121050
2202	EFEMP1	HP:0003199	Decreased muscle mass	-	OMIM:154700
2202	EFEMP1	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
2202	EFEMP1	HP:0000883	Thin ribs	-	OMIM:182212
2202	EFEMP1	HP:0011509	Macular hyperpigmentation	HP:0040282	ORPHA:75376
2202	EFEMP1	HP:0011506	Choroidal neovascularization	HP:0040283	ORPHA:75376
2202	EFEMP1	HP:0000822	Hypertension	-	OMIM:208050
2202	EFEMP1	HP:0000895	Lateral clavicle hook	-	OMIM:182212
2202	EFEMP1	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
2202	EFEMP1	HP:0034391	Elbow contracture	10/14	OMIM:121050
2202	EFEMP1	HP:0003273	Hip contracture	32/121	OMIM:121050
2202	EFEMP1	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
2202	EFEMP1	HP:0000978	Bruising susceptibility	2/4	OMIM:620780
2202	EFEMP1	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
2202	EFEMP1	HP:0000978	Bruising susceptibility	-	OMIM:208050
2202	EFEMP1	HP:0000977	Soft skin	7/15	OMIM:208050
2202	EFEMP1	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
2202	EFEMP1	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
2202	EFEMP1	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
2202	EFEMP1	HP:0000973	Cutis laxa	1/4	OMIM:620780
2202	EFEMP1	HP:0000973	Cutis laxa	5/14	OMIM:208050
2202	EFEMP1	HP:0000963	Thin skin	1/4	OMIM:620780
2202	EFEMP1	HP:0000963	Thin skin	4/13	OMIM:208050
2202	EFEMP1	HP:0000938	Osteopenia	-	OMIM:121050
2202	EFEMP1	HP:0000938	Osteopenia	-	OMIM:182212
2202	EFEMP1	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
2202	EFEMP1	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:75376
2202	EFEMP1	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
2202	EFEMP1	HP:0025586	Hypertropia	8/573	OMIM:154700
2202	EFEMP1	HP:0000278	Retrognathia	-	OMIM:154700
2202	EFEMP1	HP:0025574	Macular hemorrhage	HP:0040283	ORPHA:75376
2202	EFEMP1	HP:0000260	Wide anterior fontanel	-	OMIM:182212
2202	EFEMP1	HP:0000275	Narrow face	3/3	OMIM:620780
2202	EFEMP1	HP:0000275	Narrow face	-	OMIM:154700
2202	EFEMP1	HP:0000276	Long face	14/14	OMIM:208050
2202	EFEMP1	HP:0000276	Long face	3/3	OMIM:620780
2202	EFEMP1	HP:0000276	Long face	-	OMIM:154700
2202	EFEMP1	HP:0000272	Malar flattening	9/14	OMIM:208050
2202	EFEMP1	HP:0000272	Malar flattening	31/53	OMIM:154700
2202	EFEMP1	HP:0000268	Dolichocephaly	-	OMIM:121050
2202	EFEMP1	HP:0000268	Dolichocephaly	36/53	OMIM:154700
2202	EFEMP1	HP:0000268	Dolichocephaly	28/37	OMIM:182212
2202	EFEMP1	HP:0005136	Mitral annular calcification	-	OMIM:154700
2202	EFEMP1	HP:0007793	Granular macular appearance	HP:0040283	ORPHA:75376
2202	EFEMP1	HP:0007754	Macular dystrophy	HP:0040281	ORPHA:75376
2202	EFEMP1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
2202	EFEMP1	HP:0002816	Genu recurvatum	-	OMIM:182212
2202	EFEMP1	HP:0002816	Genu recurvatum	-	OMIM:154700
2202	EFEMP1	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
2202	EFEMP1	HP:0000244	Brachyturricephaly	-	OMIM:182212
2202	EFEMP1	HP:0012231	Exudative retinal detachment	HP:0040283	ORPHA:75376
2202	EFEMP1	HP:0000238	Hydrocephalus	13/37	OMIM:182212
2202	EFEMP1	HP:0000252	Microcephaly	6/37	OMIM:182212
2202	EFEMP1	HP:0000248	Brachycephaly	-	OMIM:121050
2202	EFEMP1	HP:0000218	High palate	34/53	OMIM:154700
2202	EFEMP1	HP:0000218	High palate	30/102	OMIM:121050
2202	EFEMP1	HP:0000218	High palate	2/2	OMIM:620780
2202	EFEMP1	HP:0000218	High palate	5/13	OMIM:208050
2202	EFEMP1	HP:0000218	High palate	30/37	OMIM:182212
2202	EFEMP1	HP:0000233	Thin vermilion border	-	OMIM:130050
2202	EFEMP1	HP:0030009	Cervical insufficiency	-	OMIM:130050
2202	EFEMP1	HP:0002857	Genu valgum	4/37	OMIM:182212
2202	EFEMP1	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
2202	EFEMP1	HP:0001537	Umbilical hernia	-	OMIM:208050
2202	EFEMP1	HP:0001537	Umbilical hernia	13/37	OMIM:182212
2202	EFEMP1	HP:0031364	Ecchymosis	-	OMIM:130050
2202	EFEMP1	HP:0001508	Failure to thrive	1/4	OMIM:620780
2202	EFEMP1	HP:0001519	Disproportionate tall stature	-	OMIM:121050
2202	EFEMP1	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
2202	EFEMP1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
2202	EFEMP1	HP:0007800	Increased axial length of the globe	-	OMIM:154700
2202	EFEMP1	HP:0012385	Camptodactyly	86/110	OMIM:121050
2202	EFEMP1	HP:0012385	Camptodactyly	19/53	OMIM:154700
2202	EFEMP1	HP:0012385	Camptodactyly	24/37	OMIM:182212
2202	EFEMP1	HP:0031526	Subretinal fluid	HP:0040283	ORPHA:75376
2202	EFEMP1	HP:0000387	Absent earlobe	-	OMIM:130050
2202	EFEMP1	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
2202	EFEMP1	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
2202	EFEMP1	HP:0005214	Intestinal obstruction	1/4	OMIM:620780
2202	EFEMP1	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
2202	EFEMP1	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
2202	EFEMP1	HP:0007854	Glaucomatous visual field defect	HP:0040282	ORPHA:98977
2202	EFEMP1	HP:0002933	Ventral hernia	1/4	OMIM:620780
2202	EFEMP1	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
2202	EFEMP1	HP:0006480	Premature loss of teeth	-	OMIM:130050
2202	EFEMP1	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
2202	EFEMP1	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
2202	EFEMP1	HP:0011003	High myopia	3/4	OMIM:620780
2202	EFEMP1	HP:0011003	High myopia	HP:0040283	ORPHA:98977
2202	EFEMP1	HP:0000369	Low-set ears	32/37	OMIM:182212
2202	EFEMP1	HP:0000343	Long philtrum	1/1	OMIM:620780
2202	EFEMP1	HP:0000343	Long philtrum	-	OMIM:208050
2202	EFEMP1	HP:0002999	Patellar dislocation	2/20	OMIM:121050
2202	EFEMP1	HP:0000347	Micrognathia	-	OMIM:154700
2202	EFEMP1	HP:0000347	Micrognathia	26/94	OMIM:121050
2202	EFEMP1	HP:0000347	Micrognathia	5/14	OMIM:208050
2202	EFEMP1	HP:0000347	Micrognathia	33/37	OMIM:182212
2202	EFEMP1	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
2202	EFEMP1	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
2202	EFEMP1	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
2202	EFEMP1	HP:0000316	Hypertelorism	6/16	OMIM:208050
2202	EFEMP1	HP:0000316	Hypertelorism	28/37	OMIM:182212
2202	EFEMP1	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
2202	EFEMP1	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
2202	EFEMP1	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
2202	EFEMP1	HP:0001659	Aortic regurgitation	-	OMIM:208050
2202	EFEMP1	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
2202	EFEMP1	HP:0001653	Mitral regurgitation	-	OMIM:121050
2202	EFEMP1	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
2202	EFEMP1	HP:0001629	Ventricular septal defect	-	OMIM:121050
2202	EFEMP1	HP:0001635	Congestive heart failure	-	OMIM:154700
2202	EFEMP1	HP:0001631	Atrial septal defect	-	OMIM:121050
2202	EFEMP1	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
2202	EFEMP1	HP:0001634	Mitral valve prolapse	-	OMIM:130050
2202	EFEMP1	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
2202	EFEMP1	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
2202	EFEMP1	HP:0007950	Peripapillary chorioretinal atrophy	HP:0040283	ORPHA:75376
2202	EFEMP1	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
2202	EFEMP1	HP:0007937	Reticular pigmentary degeneration	HP:0040281	ORPHA:75376
2202	EFEMP1	HP:0007937	Reticular pigmentary degeneration	-	OMIM:126600
2202	EFEMP1	HP:0007906	Ocular hypertension	5/5	OMIM:611276
2202	EFEMP1	HP:0007906	Ocular hypertension	HP:0040282	ORPHA:98977
2202	EFEMP1	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
2202	EFEMP1	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
2202	EFEMP1	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
2202	EFEMP1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:98977
2202	EFEMP1	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
2202	EFEMP1	HP:0000400	Macrotia	7/15	OMIM:208050
2202	EFEMP1	HP:0000400	Macrotia	2/2	OMIM:620780
2202	EFEMP1	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
2202	EFEMP1	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
2202	EFEMP1	HP:0000483	Astigmatism	2/2	OMIM:620780
2202	EFEMP1	HP:0000483	Astigmatism	3/53	OMIM:154700
2202	EFEMP1	HP:0000483	Astigmatism	5/15	OMIM:208050
2202	EFEMP1	HP:0000486	Strabismus	110/573	OMIM:154700
2202	EFEMP1	HP:0000486	Strabismus	17/37	OMIM:182212
2202	EFEMP1	HP:0000494	Downslanted palpebral fissures	3/3	OMIM:620780
2202	EFEMP1	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
2202	EFEMP1	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
2202	EFEMP1	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
2202	EFEMP1	HP:0000490	Deeply set eye	25/63	OMIM:154700
2202	EFEMP1	HP:0000463	Anteverted nares	9/37	OMIM:182212
2202	EFEMP1	HP:0001786	Narrow foot	33/53	OMIM:154700
2202	EFEMP1	HP:0000470	Short neck	-	OMIM:121050
2202	EFEMP1	HP:0001763	Pes planus	2/2	OMIM:620780
2202	EFEMP1	HP:0001763	Pes planus	27/53	OMIM:154700
2202	EFEMP1	HP:0001763	Pes planus	-	OMIM:182212
2202	EFEMP1	HP:0001765	Hammertoe	-	OMIM:154700
2202	EFEMP1	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
2202	EFEMP1	HP:0000418	Narrow nasal ridge	-	OMIM:130050
2202	EFEMP1	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
2202	EFEMP1	HP:0001762	Talipes equinovarus	-	OMIM:130050
2202	EFEMP1	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
2202	EFEMP1	HP:0001761	Pes cavus	49/146	OMIM:154700
2202	EFEMP1	HP:0012508	Metamorphopsia	HP:0040282	ORPHA:75376
2202	EFEMP1	HP:0000518	Cataract	118/199	OMIM:154700
2202	EFEMP1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
2202	EFEMP1	HP:0001840	Metatarsus adductus	-	OMIM:121050
2202	EFEMP1	HP:0001840	Metatarsus adductus	-	OMIM:182212
2202	EFEMP1	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
2202	EFEMP1	HP:0001842	Foot acroosteolysis	-	OMIM:130050
2202	EFEMP1	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:98977
2202	EFEMP1	HP:0000520	Proptosis	29/37	OMIM:182212
2202	EFEMP1	HP:0000506	Telecanthus	3/3	OMIM:620780
2202	EFEMP1	HP:0000506	Telecanthus	-	OMIM:182212
2202	EFEMP1	HP:0000508	Ptosis	2/4	OMIM:620780
2202	EFEMP1	HP:0000508	Ptosis	16/37	OMIM:182212
2202	EFEMP1	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
2202	EFEMP1	HP:0000505	Visual impairment	-	OMIM:126600
2202	EFEMP1	HP:0000505	Visual impairment	HP:0040282	ORPHA:98977
2202	EFEMP1	HP:0000501	Glaucoma	29/625	OMIM:154700
2202	EFEMP1	HP:0000581	Blepharophimosis	-	OMIM:208050
2202	EFEMP1	HP:0000575	Scotoma	5/18	OMIM:180100
2202	EFEMP1	HP:0000577	Exotropia	72/626	OMIM:154700
2202	EFEMP1	HP:0000593	Abnormal anterior chamber morphology	HP:0040282	ORPHA:98977
2202	EFEMP1	HP:0000587	Abnormal optic nerve morphology	HP:0040282	ORPHA:98977
2202	EFEMP1	HP:0000586	Shallow orbits	13/37	OMIM:182212
2202	EFEMP1	HP:0000563	Keratoconus	-	OMIM:130050
2202	EFEMP1	HP:0000563	Keratoconus	3/14	OMIM:208050
2202	EFEMP1	HP:0011220	Prominent forehead	17/37	OMIM:182212
2202	EFEMP1	HP:0000556	Retinal dystrophy	-	OMIM:126600
2202	EFEMP1	HP:0000572	Visual loss	HP:0040281	ORPHA:75376
2202	EFEMP1	HP:0000565	Esotropia	12/573	OMIM:154700
2202	EFEMP1	HP:0000541	Retinal detachment	-	OMIM:154700
2202	EFEMP1	HP:0001883	Talipes	13/53	OMIM:154700
2202	EFEMP1	HP:0012511	Temporal optic disc pallor	HP:0040283	ORPHA:98977
2202	EFEMP1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
2202	EFEMP1	HP:0000545	Myopia	-	OMIM:121050
2202	EFEMP1	HP:0000545	Myopia	-	OMIM:180100
2202	EFEMP1	HP:0000545	Myopia	6/15	OMIM:208050
2202	EFEMP1	HP:0000545	Myopia	93/251	OMIM:154700
2202	EFEMP1	HP:0000545	Myopia	9/37	OMIM:182212
2203	FBP1	HP:0001254	Lethargy	-	OMIM:229700
2203	FBP1	HP:0001250	Seizure	HP:0040283	ORPHA:348
2203	FBP1	HP:0001250	Seizure	-	OMIM:229700
2203	FBP1	HP:0001252	Hypotonia	HP:0040283	ORPHA:348
2203	FBP1	HP:0001252	Hypotonia	-	OMIM:229700
2203	FBP1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:348
2203	FBP1	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:348
2203	FBP1	HP:0001259	Coma	HP:0040283	ORPHA:348
2203	FBP1	HP:0001259	Coma	-	OMIM:229700
2203	FBP1	HP:0034995	Reduced tissue fructose-1,6-bisphosphatase activity	1/1	OMIM:229700
2203	FBP1	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:348
2203	FBP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:229700
2203	FBP1	HP:0003348	Hyperalaninemia	HP:0040284	ORPHA:348
2203	FBP1	HP:0040301	Increased urinary glycerol	-	OMIM:229700
2203	FBP1	HP:0040301	Increased urinary glycerol	HP:0040283	ORPHA:348
2203	FBP1	HP:0002014	Diarrhea	HP:0040282	ORPHA:348
2203	FBP1	HP:0002013	Vomiting	HP:0040282	ORPHA:348
2203	FBP1	HP:0005949	Apneic episodes in infancy	HP:0040283	ORPHA:348
2203	FBP1	HP:0002098	Respiratory distress	HP:0040283	ORPHA:348
2203	FBP1	HP:0002094	Dyspnea	HP:0040283	ORPHA:348
2203	FBP1	HP:0002094	Dyspnea	-	OMIM:229700
2203	FBP1	HP:0002149	Hyperuricemia	HP:0040282	ORPHA:348
2203	FBP1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:348
2203	FBP1	HP:0002104	Apnea	-	OMIM:229700
2203	FBP1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:348
2203	FBP1	HP:0002240	Hepatomegaly	-	OMIM:229700
2203	FBP1	HP:0004879	Intermittent hyperventilation	HP:0040283	ORPHA:348
2203	FBP1	HP:0002329	Drowsiness	HP:0040283	ORPHA:348
2203	FBP1	HP:0003623	Neonatal onset	1/1	OMIM:229700
2203	FBP1	HP:0004913	Intermittent lactic acidemia	HP:0040282	ORPHA:348
2203	FBP1	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:348
2203	FBP1	HP:0001943	Hypoglycemia	1/1	OMIM:229700
2203	FBP1	HP:0001946	Ketosis	-	OMIM:229700
2203	FBP1	HP:0001946	Ketosis	HP:0040283	ORPHA:348
2203	FBP1	HP:0001945	Fever	-	OMIM:229700
2203	FBP1	HP:0001942	Metabolic acidosis	HP:0040281	ORPHA:348
2203	FBP1	HP:0001942	Metabolic acidosis	1/1	OMIM:229700
2203	FBP1	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:348
2203	FBP1	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:348
2203	FBP1	HP:0000737	Irritability	HP:0040283	ORPHA:348
2203	FBP1	HP:0000737	Irritability	-	OMIM:229700
2203	FBP1	HP:0003162	Fasting hypoglycemia	HP:0040282	ORPHA:348
2203	FBP1	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:348
2203	FBP1	HP:0003265	Neonatal hyperbilirubinemia	HP:0040283	ORPHA:348
2203	FBP1	HP:0000980	Pallor	HP:0040283	ORPHA:348
2203	FBP1	HP:0002883	Hyperventilation	-	OMIM:229700
2203	FBP1	HP:0002876	Episodic tachypnea	HP:0040283	ORPHA:348
2203	FBP1	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:348
2203	FBP1	HP:0006582	Reye syndrome-like episodes	HP:0040283	ORPHA:348
2203	FBP1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:348
2203	FBP1	HP:0001649	Tachycardia	HP:0040283	ORPHA:348
2203	FBP1	HP:0001649	Tachycardia	-	OMIM:229700
2212	FCGR2A	HP:0001250	Seizure	-	OMIM:152700
2212	FCGR2A	HP:0002595	Ileus	3/71	OMIM:219700
2212	FCGR2A	HP:0002570	Steatorrhea	3/21	OMIM:219700
2212	FCGR2A	HP:0032359	Decreased forced expiratory flow 25-75%	15/21	OMIM:219700
2212	FCGR2A	HP:6000725	Salty tasting skin	21/49	OMIM:219700
2212	FCGR2A	HP:0032341	Reduced forced vital capacity	5/21	OMIM:219700
2212	FCGR2A	HP:0032342	Reduced forced expiratory volume in one second	26/39	OMIM:219700
2212	FCGR2A	HP:0001394	Cirrhosis	2/71	OMIM:219700
2212	FCGR2A	HP:0001369	Arthritis	-	OMIM:152700
2212	FCGR2A	HP:0033726	Lupus nephritis	700/1827	OMIM:152700
2212	FCGR2A	HP:0025300	Malar rash	-	OMIM:152700
2212	FCGR2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:219700
2212	FCGR2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:152700
2212	FCGR2A	HP:0002613	Biliary cirrhosis	-	OMIM:219700
2212	FCGR2A	HP:0000123	Nephritis	-	OMIM:152700
2212	FCGR2A	HP:0001433	Hepatosplenomegaly	2/71	OMIM:219700
2212	FCGR2A	HP:0002725	Systemic lupus erythematosus	-	OMIM:152700
2212	FCGR2A	HP:0002035	Rectal prolapse	-	OMIM:219700
2212	FCGR2A	HP:0002014	Diarrhea	15/71	OMIM:219700
2212	FCGR2A	HP:0002099	Asthma	-	OMIM:219700
2212	FCGR2A	HP:6000100	Hyperpolarized transepithelial nasal potential difference	-	OMIM:219700
2212	FCGR2A	HP:0100582	Nasal polyposis	1/21	OMIM:219700
2212	FCGR2A	HP:0002150	Hypercalciuria	-	OMIM:219700
2212	FCGR2A	HP:0002102	Pleuritis	-	OMIM:152700
2212	FCGR2A	HP:0002110	Bronchiectasis	106/111	OMIM:219700
2212	FCGR2A	HP:0002105	Hemoptysis	3/21	OMIM:219700
2212	FCGR2A	HP:0003493	Antinuclear antibody positivity	-	OMIM:152700
2212	FCGR2A	HP:0003593	Infantile onset	6/7	OMIM:219700
2212	FCGR2A	HP:0002240	Hepatomegaly	1/71	OMIM:219700
2212	FCGR2A	HP:0100759	Clubbing of fingers	9/21	OMIM:219700
2212	FCGR2A	HP:0003613	Antiphospholipid antibody positivity	-	OMIM:152700
2212	FCGR2A	HP:0001944	Dehydration	HP:0040283	OMIM:219700
2212	FCGR2A	HP:0000709	Psychosis	-	OMIM:152700
2212	FCGR2A	HP:0011463	Childhood onset	1/7	OMIM:219700
2212	FCGR2A	HP:0004401	Meconium ileus	-	OMIM:219700
2212	FCGR2A	HP:0003251	Male infertility	-	OMIM:219700
2212	FCGR2A	HP:0000992	Cutaneous photosensitivity	-	OMIM:152700
2212	FCGR2A	HP:0012236	Elevated sweat chloride	77/77	OMIM:219700
2212	FCGR2A	HP:0001508	Failure to thrive	8/21	OMIM:219700
2212	FCGR2A	HP:0006538	Recurrent bronchopulmonary infections	-	OMIM:219700
2212	FCGR2A	HP:0006528	Chronic lung disease	-	OMIM:219700
2212	FCGR2A	HP:0006532	Recurrent pneumonia	8/21	OMIM:219700
2212	FCGR2A	HP:0001648	Cor pulmonale	1/7	OMIM:219700
2212	FCGR2A	HP:0001738	Exocrine pancreatic insufficiency	11/27	OMIM:219700
2212	FCGR2A	HP:0001733	Pancreatitis	2/21	OMIM:219700
2212	FCGR2A	HP:0001701	Pericarditis	-	OMIM:152700
2212	FCGR2A	HP:0011109	Chronic sinusitis	59/112	OMIM:219700
2212	FCGR2A	HP:0001882	Decreased total leukocyte count	-	OMIM:152700
2212	FCGR2A	HP:0001878	Hemolytic anemia	-	OMIM:152700
2212	FCGR2A	HP:0001873	Thrombocytopenia	-	OMIM:152700
2213	FCGR2B	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0001250	Seizure	-	OMIM:152700
2213	FCGR2B	HP:0001250	Seizure	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
2213	FCGR2B	HP:0001369	Arthritis	HP:0040282	ORPHA:536
2213	FCGR2B	HP:0001369	Arthritis	-	OMIM:152700
2213	FCGR2B	HP:0033834	Malaise	HP:0040281	ORPHA:536
2213	FCGR2B	HP:0012085	Pyuria	HP:0040282	ORPHA:536
2213	FCGR2B	HP:0033726	Lupus nephritis	700/1827	OMIM:152700
2213	FCGR2B	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
2213	FCGR2B	HP:0025300	Malar rash	-	OMIM:152700
2213	FCGR2B	HP:0025300	Malar rash	HP:0040282	ORPHA:536
2213	FCGR2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:152700
2213	FCGR2B	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0000123	Nephritis	-	OMIM:152700
2213	FCGR2B	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0002725	Systemic lupus erythematosus	-	OMIM:152700
2213	FCGR2B	HP:0002072	Chorea	HP:0040284	ORPHA:536
2213	FCGR2B	HP:0002039	Anorexia	HP:0040281	ORPHA:536
2213	FCGR2B	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
2213	FCGR2B	HP:0002102	Pleuritis	-	OMIM:152700
2213	FCGR2B	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
2213	FCGR2B	HP:0003493	Antinuclear antibody positivity	-	OMIM:152700
2213	FCGR2B	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
2213	FCGR2B	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0003613	Antiphospholipid antibody positivity	-	OMIM:152700
2213	FCGR2B	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
2213	FCGR2B	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
2213	FCGR2B	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0001945	Fever	HP:0040281	ORPHA:536
2213	FCGR2B	HP:0000716	Depression	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0000709	Psychosis	-	OMIM:152700
2213	FCGR2B	HP:0000790	Hematuria	HP:0040282	ORPHA:536
2213	FCGR2B	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
2213	FCGR2B	HP:0000822	Hypertension	HP:0040282	ORPHA:536
2213	FCGR2B	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
2213	FCGR2B	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
2213	FCGR2B	HP:0045073	Serositis	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0000992	Cutaneous photosensitivity	-	OMIM:152700
2213	FCGR2B	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0001596	Alopecia	HP:0040282	ORPHA:536
2213	FCGR2B	HP:0012378	Fatigue	HP:0040281	ORPHA:536
2213	FCGR2B	HP:0001701	Pericarditis	-	OMIM:152700
2213	FCGR2B	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
2213	FCGR2B	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
2213	FCGR2B	HP:0001824	Weight loss	HP:0040281	ORPHA:536
2213	FCGR2B	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
2213	FCGR2B	HP:0001882	Decreased total leukocyte count	-	OMIM:152700
2213	FCGR2B	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0001878	Hemolytic anemia	-	OMIM:152700
2213	FCGR2B	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
2213	FCGR2B	HP:0001873	Thrombocytopenia	-	OMIM:152700
2214	FCGR3A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615707
2214	FCGR3A	HP:0012177	Abnormal natural killer cell physiology	1/1	OMIM:615707
2214	FCGR3A	HP:0410028	Recurrent oral herpes	1/1	OMIM:615707
2214	FCGR3A	HP:0002721	Immunodeficiency	-	OMIM:615707
2214	FCGR3A	HP:0033166	Recurrent viral upper respiratory tract infections	1/1	OMIM:615707
2214	FCGR3A	HP:0003593	Infantile onset	1/1	OMIM:615707
2214	FCGR3A	HP:0002205	Recurrent respiratory infections	-	OMIM:615707
2214	FCGR3A	HP:0020086	BCGitis	1/1	OMIM:615707
2214	FCGR3A	HP:0032170	Severe varicella zoster infection	1/1	OMIM:615707
2214	FCGR3A	HP:0040218	Reduced total natural killer cell count	1/2	OMIM:615707
2214	FCGR3A	HP:0030828	Wheezing	1/1	OMIM:615707
2214	FCGR3A	HP:0000403	Recurrent otitis media	1/1	OMIM:615707
2214	FCGR3A	HP:0011108	Recurrent sinusitis	1/1	OMIM:615707
2215	FCGR3B	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
2215	FCGR3B	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
2215	FCGR3B	HP:0100806	Sepsis	HP:0040283	ORPHA:464370
2215	FCGR3B	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
2215	FCGR3B	HP:0001287	Meningitis	HP:0040283	ORPHA:464370
2215	FCGR3B	HP:0001250	Seizure	HP:0040283	ORPHA:536
2215	FCGR3B	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
2215	FCGR3B	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
2215	FCGR3B	HP:0001369	Arthritis	HP:0040282	ORPHA:536
2215	FCGR3B	HP:0033834	Malaise	HP:0040281	ORPHA:536
2215	FCGR3B	HP:0012085	Pyuria	HP:0040282	ORPHA:536
2215	FCGR3B	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
2215	FCGR3B	HP:0025300	Malar rash	HP:0040282	ORPHA:536
2215	FCGR3B	HP:0032435	Neonatal omphalitis	HP:0040283	ORPHA:464370
2215	FCGR3B	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
2215	FCGR3B	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
2215	FCGR3B	HP:0005968	Temperature instability	HP:0040283	ORPHA:464370
2215	FCGR3B	HP:0002090	Pneumonia	HP:0040282	ORPHA:464370
2215	FCGR3B	HP:0002072	Chorea	HP:0040284	ORPHA:536
2215	FCGR3B	HP:0002039	Anorexia	HP:0040281	ORPHA:536
2215	FCGR3B	HP:0003453	Antineutrophil antibody positivity	HP:0040281	ORPHA:464370
2215	FCGR3B	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
2215	FCGR3B	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
2215	FCGR3B	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
2215	FCGR3B	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
2215	FCGR3B	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
2215	FCGR3B	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:464370
2215	FCGR3B	HP:0032169	Severe infection	HP:0040282	ORPHA:464370
2215	FCGR3B	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
2215	FCGR3B	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
2215	FCGR3B	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
2215	FCGR3B	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
2215	FCGR3B	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
2215	FCGR3B	HP:0001945	Fever	HP:0040281	ORPHA:536
2215	FCGR3B	HP:0001945	Fever	HP:0040283	ORPHA:464370
2215	FCGR3B	HP:0001904	Autoimmune neutropenia	HP:0040281	ORPHA:464370
2215	FCGR3B	HP:0000716	Depression	HP:0040283	ORPHA:536
2215	FCGR3B	HP:0000790	Hematuria	HP:0040282	ORPHA:536
2215	FCGR3B	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
2215	FCGR3B	HP:0000822	Hypertension	HP:0040282	ORPHA:536
2215	FCGR3B	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
2215	FCGR3B	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
2215	FCGR3B	HP:0045073	Serositis	HP:0040283	ORPHA:536
2215	FCGR3B	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
2215	FCGR3B	HP:0000952	Jaundice	HP:0040283	ORPHA:464370
2215	FCGR3B	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
2215	FCGR3B	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
2215	FCGR3B	HP:0001596	Alopecia	HP:0040282	ORPHA:536
2215	FCGR3B	HP:0012378	Fatigue	HP:0040281	ORPHA:536
2215	FCGR3B	HP:0005268	Miscarriage	HP:0040283	ORPHA:464370
2215	FCGR3B	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
2215	FCGR3B	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
2215	FCGR3B	HP:0001824	Weight loss	HP:0040281	ORPHA:536
2215	FCGR3B	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
2215	FCGR3B	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
2215	FCGR3B	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
2218	FKTN	HP:0003797	Limb-girdle muscle atrophy	HP:0040282	ORPHA:370980
2218	FKTN	HP:0002438	Cerebellar malformation	-	OMIM:236670
2218	FKTN	HP:0002435	Meningocele	HP:0040283	ORPHA:588
2218	FKTN	HP:0001105	Retinal atrophy	-	OMIM:236670
2218	FKTN	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
2218	FKTN	HP:0007260	Type II lissencephaly	HP:0040281	ORPHA:272
2218	FKTN	HP:0007260	Type II lissencephaly	-	OMIM:253800
2218	FKTN	HP:0007260	Type II lissencephaly	31/31	OMIM:236670
2218	FKTN	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:272
2218	FKTN	HP:0010864	Intellectual disability, severe	-	OMIM:236670
2218	FKTN	HP:0008551	Microtia	-	OMIM:236670
2218	FKTN	HP:0003701	Proximal muscle weakness	3/3	OMIM:611588
2218	FKTN	HP:0003701	Proximal muscle weakness	3/6	OMIM:611615
2218	FKTN	HP:0003712	Skeletal muscle hypertrophy	-	OMIM:611588
2218	FKTN	HP:0007291	Posterior fossa cyst	-	OMIM:236670
2218	FKTN	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:370980
2218	FKTN	HP:0001290	Generalized hypotonia	-	OMIM:253800
2218	FKTN	HP:0001276	Hypertonia	HP:0040282	ORPHA:588
2218	FKTN	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:370980
2218	FKTN	HP:0001274	Agenesis of corpus callosum	-	OMIM:236670
2218	FKTN	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:899
2218	FKTN	HP:0001274	Agenesis of corpus callosum	-	OMIM:253800
2218	FKTN	HP:0001270	Motor delay	HP:0040282	ORPHA:370980
2218	FKTN	HP:0001270	Motor delay	3/3	OMIM:611588
2218	FKTN	HP:0001270	Motor delay	1/1	OMIM:613152
2218	FKTN	HP:0001288	Gait disturbance	HP:0040281	ORPHA:272
2218	FKTN	HP:0001288	Gait disturbance	HP:0040281	ORPHA:588
2218	FKTN	HP:0001288	Gait disturbance	HP:0040282	ORPHA:370980
2218	FKTN	HP:0001284	Areflexia	HP:0040281	ORPHA:899
2218	FKTN	HP:0001284	Areflexia	-	OMIM:253800
2218	FKTN	HP:0001250	Seizure	-	OMIM:253800
2218	FKTN	HP:0001250	Seizure	HP:0040282	ORPHA:272
2218	FKTN	HP:0001250	Seizure	HP:0040282	ORPHA:588
2218	FKTN	HP:0001250	Seizure	2/2	OMIM:236670
2218	FKTN	HP:0001250	Seizure	HP:0040283	ORPHA:899
2218	FKTN	HP:0001252	Hypotonia	-	OMIM:253800
2218	FKTN	HP:0001252	Hypotonia	HP:0040281	ORPHA:272
2218	FKTN	HP:0001252	Hypotonia	3/3	OMIM:611588
2218	FKTN	HP:0001252	Hypotonia	HP:0040282	ORPHA:588
2218	FKTN	HP:0001252	Hypotonia	-	OMIM:236670
2218	FKTN	HP:0001252	Hypotonia	HP:0040281	ORPHA:899
2218	FKTN	HP:0001252	Hypotonia	-	OMIM:613152
2218	FKTN	HP:0001249	Intellectual disability	-	ORPHA:370980
2218	FKTN	HP:0001249	Intellectual disability	-	OMIM:253800
2218	FKTN	HP:0001249	Intellectual disability	HP:0040281	ORPHA:899
2218	FKTN	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:899
2218	FKTN	HP:0001265	Hyporeflexia	-	OMIM:611588
2218	FKTN	HP:0001263	Global developmental delay	HP:0040281	ORPHA:272
2218	FKTN	HP:0001263	Global developmental delay	1/1	OMIM:236670
2218	FKTN	HP:0001263	Global developmental delay	HP:0040281	ORPHA:899
2218	FKTN	HP:0001262	Excessive daytime somnolence	-	OMIM:236670
2218	FKTN	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:899
2218	FKTN	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:272
2218	FKTN	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:588
2218	FKTN	HP:0007348	Hypoplasia of the pyramidal tract	-	OMIM:253800
2218	FKTN	HP:0002536	Abnormal cortical gyration	HP:0040281	ORPHA:899
2218	FKTN	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:370980
2218	FKTN	HP:0002500	Abnormal cerebral white matter morphology	1/1	OMIM:613152
2218	FKTN	HP:0001371	Flexion contracture	HP:0040281	ORPHA:272
2218	FKTN	HP:0001371	Flexion contracture	-	OMIM:611588
2218	FKTN	HP:0001371	Flexion contracture	-	OMIM:253800
2218	FKTN	HP:0000050	Hypoplastic male external genitalia	-	OMIM:236670
2218	FKTN	HP:0001349	Facial diplegia	HP:0040282	ORPHA:370980
2218	FKTN	HP:0001360	Holoprosencephaly	HP:0040283	OMIM:253800
2218	FKTN	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:588
2218	FKTN	HP:0001357	Plagiocephaly	HP:0040281	ORPHA:272
2218	FKTN	HP:0000028	Cryptorchidism	1/1	OMIM:236670
2218	FKTN	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:899
2218	FKTN	HP:0008872	Feeding difficulties in infancy	2/2	OMIM:236670
2218	FKTN	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:899
2218	FKTN	HP:0001328	Specific learning disability	HP:0040281	ORPHA:899
2218	FKTN	HP:0001324	Muscle weakness	HP:0040281	ORPHA:899
2218	FKTN	HP:0001324	Muscle weakness	-	OMIM:253800
2218	FKTN	HP:0001344	Absent speech	1/1	OMIM:236670
2218	FKTN	HP:0001339	Lissencephaly	-	OMIM:253800
2218	FKTN	HP:0001339	Lissencephaly	HP:0040281	ORPHA:899
2218	FKTN	HP:0000007	Autosomal recessive inheritance	-	OMIM:611615
2218	FKTN	HP:0000007	Autosomal recessive inheritance	-	OMIM:611588
2218	FKTN	HP:0000007	Autosomal recessive inheritance	-	OMIM:613152
2218	FKTN	HP:0000007	Autosomal recessive inheritance	-	OMIM:253800
2218	FKTN	HP:0000007	Autosomal recessive inheritance	-	OMIM:236670
2218	FKTN	HP:0001305	Dandy-Walker malformation	2/2	OMIM:236670
2218	FKTN	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:899
2218	FKTN	HP:0001302	Pachygyria	-	OMIM:236670
2218	FKTN	HP:0001302	Pachygyria	HP:0040281	ORPHA:899
2218	FKTN	HP:0001302	Pachygyria	HP:0040284	ORPHA:370980
2218	FKTN	HP:0001302	Pachygyria	-	OMIM:253800
2218	FKTN	HP:0002650	Scoliosis	-	OMIM:253800
2218	FKTN	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:236670
2218	FKTN	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:899
2218	FKTN	HP:0001321	Cerebellar hypoplasia	-	OMIM:253800
2218	FKTN	HP:0033755	Increased left ventricular end-diastolic volume	6/6	OMIM:611615
2218	FKTN	HP:0001319	Neonatal hypotonia	1/1	OMIM:236670
2218	FKTN	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:370980
2218	FKTN	HP:0000193	Bifid uvula	HP:0040283	ORPHA:899
2218	FKTN	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:899
2218	FKTN	HP:0000175	Cleft palate	-	OMIM:236670
2218	FKTN	HP:0000175	Cleft palate	HP:0040283	ORPHA:899
2218	FKTN	HP:0008981	Calf muscle hypertrophy	-	OMIM:253800
2218	FKTN	HP:0008981	Calf muscle hypertrophy	4/6	OMIM:611615
2218	FKTN	HP:0008981	Calf muscle hypertrophy	1/3	OMIM:611588
2218	FKTN	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	HP:0040281	ORPHA:899
2218	FKTN	HP:0000110	Renal dysplasia	-	OMIM:236670
2218	FKTN	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:370980
2218	FKTN	HP:0002023	Anal atresia	-	OMIM:236670
2218	FKTN	HP:0003326	Myalgia	HP:0040282	ORPHA:370980
2218	FKTN	HP:0003307	Hyperlordosis	-	OMIM:611588
2218	FKTN	HP:0003306	Spinal rigidity	-	OMIM:253800
2218	FKTN	HP:0003323	Progressive muscle weakness	1/3	OMIM:611588
2218	FKTN	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:370980
2218	FKTN	HP:0003324	Generalized muscle weakness	1/1	OMIM:613152
2218	FKTN	HP:0002085	Occipital encephalocele	-	OMIM:236670
2218	FKTN	HP:0002084	Encephalocele	-	OMIM:253800
2218	FKTN	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:588
2218	FKTN	HP:0002093	Respiratory insufficiency	-	OMIM:253800
2218	FKTN	HP:0003394	Muscle spasm	HP:0040282	ORPHA:370980
2218	FKTN	HP:0003391	Gowers sign	3/6	OMIM:611615
2218	FKTN	HP:0003391	Gowers sign	-	OMIM:611588
2218	FKTN	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:236670
2218	FKTN	HP:0011727	Peroneal muscle weakness	1/3	OMIM:611588
2218	FKTN	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
2218	FKTN	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:370980
2218	FKTN	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:272
2218	FKTN	HP:0002119	Ventriculomegaly	-	OMIM:236670
2218	FKTN	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:899
2218	FKTN	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:370980
2218	FKTN	HP:0003457	EMG abnormality	HP:0040281	ORPHA:272
2218	FKTN	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
2218	FKTN	HP:0003457	EMG abnormality	HP:0040281	ORPHA:588
2218	FKTN	HP:0002126	Polymicrogyria	-	OMIM:236670
2218	FKTN	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:899
2218	FKTN	HP:0002126	Polymicrogyria	-	OMIM:253800
2218	FKTN	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:370980
2218	FKTN	HP:0002187	Intellectual disability, profound	-	OMIM:236670
2218	FKTN	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:588
2218	FKTN	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:272
2218	FKTN	HP:0010508	Metatarsus valgus	HP:0040281	ORPHA:899
2218	FKTN	HP:0002267	Exaggerated startle response	HP:0040283	OMIM:253800
2218	FKTN	HP:0003596	Middle age onset	1/6	OMIM:611615
2218	FKTN	HP:0003593	Infantile onset	-	OMIM:253800
2218	FKTN	HP:0003593	Infantile onset	3/3	OMIM:611588
2218	FKTN	HP:0003593	Infantile onset	1/1	OMIM:613152
2218	FKTN	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:899
2218	FKTN	HP:0003577	Congenital onset	2/2	OMIM:236670
2218	FKTN	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:272
2218	FKTN	HP:0003560	Muscular dystrophy	-	OMIM:236670
2218	FKTN	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:899
2218	FKTN	HP:0003560	Muscular dystrophy	3/3	OMIM:611588
2218	FKTN	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:370980
2218	FKTN	HP:0003560	Muscular dystrophy	-	OMIM:253800
2218	FKTN	HP:0003560	Muscular dystrophy	-	OMIM:613152
2218	FKTN	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:611615
2218	FKTN	HP:0002282	Gray matter heterotopia	HP:0040284	ORPHA:370980
2218	FKTN	HP:0007033	Cerebellar dysplasia	-	OMIM:236670
2218	FKTN	HP:0002365	Hypoplasia of the brainstem	1/1	OMIM:236670
2218	FKTN	HP:0002365	Hypoplasia of the brainstem	-	OMIM:253800
2218	FKTN	HP:0002359	Frequent falls	1/3	OMIM:611588
2218	FKTN	HP:0002359	Frequent falls	HP:0040282	ORPHA:370980
2218	FKTN	HP:0003676	Progressive	-	OMIM:611588
2218	FKTN	HP:0002353	EEG abnormality	HP:0040282	ORPHA:272
2218	FKTN	HP:0002353	EEG abnormality	HP:0040281	ORPHA:588
2218	FKTN	HP:0002350	Cerebellar cyst	HP:0040283	ORPHA:370980
2218	FKTN	HP:0002350	Cerebellar cyst	-	OMIM:253800
2218	FKTN	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040281	ORPHA:899
2218	FKTN	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:370980
2218	FKTN	HP:0003621	Juvenile onset	2/6	OMIM:611615
2218	FKTN	HP:0006829	Severe muscular hypotonia	-	OMIM:236670
2218	FKTN	HP:0031882	Agyria	-	OMIM:253800
2218	FKTN	HP:0031882	Agyria	2/2	OMIM:236670
2218	FKTN	HP:0006888	Meningoencephalocele	1/1	OMIM:236670
2218	FKTN	HP:0000648	Optic atrophy	HP:0040283	ORPHA:272
2218	FKTN	HP:0000648	Optic atrophy	HP:0040281	ORPHA:588
2218	FKTN	HP:0000648	Optic atrophy	1/2	OMIM:236670
2218	FKTN	HP:0000648	Optic atrophy	HP:0040281	ORPHA:899
2218	FKTN	HP:0000648	Optic atrophy	-	OMIM:253800
2218	FKTN	HP:0000618	Blindness	-	OMIM:236670
2218	FKTN	HP:0000612	Iris coloboma	HP:0040283	ORPHA:899
2218	FKTN	HP:0000609	Optic nerve hypoplasia	-	OMIM:236670
2218	FKTN	HP:0009060	Scapular muscle atrophy	1/3	OMIM:611588
2218	FKTN	HP:0012664	Reduced left ventricular ejection fraction	6/6	OMIM:611615
2218	FKTN	HP:0000659	Peters anomaly	-	OMIM:236670
2218	FKTN	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:588
2218	FKTN	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:588
2218	FKTN	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:272
2218	FKTN	HP:0000767	Pectus excavatum	-	OMIM:611588
2218	FKTN	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:272
2218	FKTN	HP:0012793	Kinked brainstem	1/2	OMIM:236670
2218	FKTN	HP:0011463	Childhood onset	1/1	OMIM:613152
2218	FKTN	HP:0011462	Young adult onset	3/6	OMIM:611615
2218	FKTN	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
2218	FKTN	HP:0003198	Myopathy	HP:0040281	ORPHA:272
2218	FKTN	HP:0003198	Myopathy	HP:0040283	ORPHA:154
2218	FKTN	HP:0003198	Myopathy	HP:0040281	ORPHA:588
2218	FKTN	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040281	ORPHA:899
2218	FKTN	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:588
2218	FKTN	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:236670
2218	FKTN	HP:0003236	Elevated circulating creatine kinase concentration	6/6	OMIM:611615
2218	FKTN	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:253800
2218	FKTN	HP:0003236	Elevated circulating creatine kinase concentration	3/3	OMIM:611588
2218	FKTN	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:613152
2218	FKTN	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:899
2218	FKTN	HP:0003202	Skeletal muscle atrophy	-	OMIM:253800
2218	FKTN	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040281	ORPHA:899
2218	FKTN	HP:0000969	Edema	HP:0040282	ORPHA:154
2218	FKTN	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
2218	FKTN	HP:0000298	Mask-like facies	HP:0040281	ORPHA:272
2218	FKTN	HP:0000298	Mask-like facies	1/1	OMIM:236670
2218	FKTN	HP:0000256	Macrocephaly	HP:0040282	ORPHA:899
2218	FKTN	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:272
2218	FKTN	HP:0007731	Chorioretinal dysplasia	HP:0040281	ORPHA:899
2218	FKTN	HP:0002803	Congenital contracture	-	OMIM:236670
2218	FKTN	HP:0030099	Reduced muscle fiber alpha dystroglycan	HP:0040282	ORPHA:370980
2218	FKTN	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:272
2218	FKTN	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:588
2218	FKTN	HP:0000238	Hydrocephalus	1/2	OMIM:236670
2218	FKTN	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:899
2218	FKTN	HP:0000238	Hydrocephalus	-	OMIM:253800
2218	FKTN	HP:0000252	Microcephaly	HP:0040283	ORPHA:370980
2218	FKTN	HP:0000252	Microcephaly	1/2	OMIM:236670
2218	FKTN	HP:0000252	Microcephaly	HP:0040283	ORPHA:899
2218	FKTN	HP:0000248	Brachycephaly	HP:0040282	ORPHA:272
2218	FKTN	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
2218	FKTN	HP:0000204	Cleft upper lip	-	OMIM:236670
2218	FKTN	HP:0030046	Hypoglycosylation of alpha-dystroglycan	HP:0040281	ORPHA:272
2218	FKTN	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3/3	OMIM:611588
2218	FKTN	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:370980
2218	FKTN	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:272
2218	FKTN	HP:0012378	Fatigue	HP:0040282	ORPHA:154
2218	FKTN	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:588
2218	FKTN	HP:0001612	Weak cry	HP:0040282	ORPHA:272
2218	FKTN	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:899
2218	FKTN	HP:0000369	Low-set ears	1/2	OMIM:236670
2218	FKTN	HP:0000369	Low-set ears	HP:0040283	ORPHA:899
2218	FKTN	HP:0000340	Sloping forehead	1/2	OMIM:236670
2218	FKTN	HP:0001669	Transposition of the great arteries	-	OMIM:253800
2218	FKTN	HP:0001685	Myocardial fibrosis	-	OMIM:253800
2218	FKTN	HP:0000347	Micrognathia	1/2	OMIM:236670
2218	FKTN	HP:0001642	Pulmonic stenosis	-	OMIM:253800
2218	FKTN	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:272
2218	FKTN	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
2218	FKTN	HP:0001644	Dilated cardiomyopathy	6/6	OMIM:611615
2218	FKTN	HP:0001644	Dilated cardiomyopathy	-	OMIM:253800
2218	FKTN	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
2218	FKTN	HP:0001631	Atrial septal defect	-	OMIM:253800
2218	FKTN	HP:0007957	Corneal opacity	1/1	OMIM:236670
2218	FKTN	HP:0007957	Corneal opacity	HP:0040282	ORPHA:899
2218	FKTN	HP:0007973	Retinal dysplasia	HP:0040283	ORPHA:272
2218	FKTN	HP:0007973	Retinal dysplasia	HP:0040283	OMIM:253800
2218	FKTN	HP:0007973	Retinal dysplasia	2/2	OMIM:236670
2218	FKTN	HP:0007973	Retinal dysplasia	HP:0040281	ORPHA:899
2218	FKTN	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
2218	FKTN	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
2218	FKTN	HP:0000486	Strabismus	HP:0040281	ORPHA:588
2218	FKTN	HP:0000486	Strabismus	-	OMIM:253800
2218	FKTN	HP:0000485	Megalocornea	-	OMIM:236670
2218	FKTN	HP:0000482	Microcornea	HP:0040283	ORPHA:899
2218	FKTN	HP:0000496	Abnormality of eye movement	-	OMIM:253800
2218	FKTN	HP:0001771	Achilles tendon contracture	HP:0040282	ORPHA:370980
2218	FKTN	HP:0012400	Abnormal circulating aldolase concentration	HP:0040281	ORPHA:899
2218	FKTN	HP:0000411	Protruding ear	HP:0040283	ORPHA:899
2218	FKTN	HP:0000413	Atresia of the external auditory canal	-	OMIM:236670
2218	FKTN	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:611588
2218	FKTN	HP:0000518	Cataract	HP:0040283	ORPHA:272
2218	FKTN	HP:0000518	Cataract	HP:0040282	ORPHA:588
2218	FKTN	HP:0000518	Cataract	-	OMIM:236670
2218	FKTN	HP:0000518	Cataract	HP:0040283	ORPHA:899
2218	FKTN	HP:0000518	Cataract	-	OMIM:253800
2218	FKTN	HP:0000528	Anophthalmia	HP:0040282	ORPHA:899
2218	FKTN	HP:0000505	Visual impairment	HP:0040283	ORPHA:272
2218	FKTN	HP:0000505	Visual impairment	HP:0040281	ORPHA:588
2218	FKTN	HP:0000501	Glaucoma	HP:0040283	ORPHA:272
2218	FKTN	HP:0000501	Glaucoma	HP:0040281	ORPHA:588
2218	FKTN	HP:0000501	Glaucoma	-	OMIM:236670
2218	FKTN	HP:0000501	Glaucoma	HP:0040282	ORPHA:899
2218	FKTN	HP:0000587	Abnormal optic nerve morphology	HP:0040281	ORPHA:899
2218	FKTN	HP:0000589	Coloboma	-	OMIM:236670
2218	FKTN	HP:0012548	Fatty replacement of skeletal muscle	HP:0040282	ORPHA:370980
2218	FKTN	HP:0000557	Buphthalmos	-	OMIM:236670
2218	FKTN	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:899
2218	FKTN	HP:0000568	Microphthalmia	1/1	OMIM:236670
2218	FKTN	HP:0000568	Microphthalmia	HP:0040282	ORPHA:899
2218	FKTN	HP:0000568	Microphthalmia	-	OMIM:253800
2218	FKTN	HP:0000541	Retinal detachment	-	OMIM:236670
2218	FKTN	HP:0000541	Retinal detachment	HP:0040281	ORPHA:899
2218	FKTN	HP:0000541	Retinal detachment	-	OMIM:253800
2218	FKTN	HP:0000540	Hypermetropia	-	OMIM:253800
2218	FKTN	HP:0000545	Myopia	HP:0040282	ORPHA:272
2218	FKTN	HP:0000545	Myopia	HP:0040281	ORPHA:588
2218	FKTN	HP:0000545	Myopia	-	OMIM:236670
2218	FKTN	HP:0000545	Myopia	-	OMIM:253800
2222	FDFT1	HP:0009887	Abnormality of hair pigmentation	-	OMIM:618156
2222	FDFT1	HP:0001250	Seizure	3/3	OMIM:618156
2222	FDFT1	HP:6000675	Elevated urinary mevalonate lactone level	2/2	OMIM:618156
2222	FDFT1	HP:0008689	Bilateral cryptorchidism	1/2	OMIM:618156
2222	FDFT1	HP:0000047	Hypospadias	1/2	OMIM:618156
2222	FDFT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618156
2222	FDFT1	HP:0002019	Constipation	3/3	OMIM:618156
2222	FDFT1	HP:0004691	2-3 toe syndactyly	2/3	OMIM:618156
2222	FDFT1	HP:0002079	Hypoplasia of the corpus callosum	2/3	OMIM:618156
2222	FDFT1	HP:6000147	Elevated methylhex-dienedioic level by MRS	-	OMIM:618156
2222	FDFT1	HP:0033146	Elevated circulating methylsuccinic acid concentration	-	OMIM:618156
2222	FDFT1	HP:0002126	Polymicrogyria	1/3	OMIM:618156
2222	FDFT1	HP:0100704	Cerebral visual impairment	3/3	OMIM:618156
2222	FDFT1	HP:0003563	Decreased LDL cholesterol concentration	3/3	OMIM:618156
2222	FDFT1	HP:6000465	Elevated urine mesaconic acid level	1/1	OMIM:618156
2222	FDFT1	HP:6000466	Elevated urine 3-methyladipic acid level	1/1	OMIM:618156
2222	FDFT1	HP:0000609	Optic nerve hypoplasia	2/3	OMIM:618156
2222	FDFT1	HP:0012736	Profound global developmental delay	3/3	OMIM:618156
2222	FDFT1	HP:0000737	Irritability	3/3	OMIM:618156
2222	FDFT1	HP:0011471	Gastrostomy tube feeding in infancy	3/3	OMIM:618156
2222	FDFT1	HP:0003100	Slender long bone	2/3	OMIM:618156
2222	FDFT1	HP:0003146	Hypocholesterolemia	3/3	OMIM:618156
2222	FDFT1	HP:0033083	Increased circulating farnesol concentration	2/2	OMIM:618156
2222	FDFT1	HP:0000992	Cutaneous photosensitivity	3/3	OMIM:618156
2222	FDFT1	HP:0000958	Dry skin	3/3	OMIM:618156
2222	FDFT1	HP:0000286	Epicanthus	2/3	OMIM:618156
2222	FDFT1	HP:0000278	Retrognathia	2/3	OMIM:618156
2222	FDFT1	HP:0006380	Knee flexion contracture	2/3	OMIM:618156
2222	FDFT1	HP:0001531	Failure to thrive in infancy	3/3	OMIM:618156
2222	FDFT1	HP:0001511	Intrauterine growth retardation	3/3	OMIM:618156
2222	FDFT1	HP:0000358	Posteriorly rotated ears	1/3	OMIM:618156
2222	FDFT1	HP:0000369	Low-set ears	1/3	OMIM:618156
2222	FDFT1	HP:0000347	Micrognathia	2/3	OMIM:618156
2222	FDFT1	HP:0001647	Bicuspid aortic valve	1/3	OMIM:618156
2222	FDFT1	HP:0002987	Elbow flexion contracture	1/3	OMIM:618156
2222	FDFT1	HP:0000400	Macrotia	2/3	OMIM:618156
2222	FDFT1	HP:0005280	Depressed nasal bridge	2/3	OMIM:618156
2224	FDPS	HP:0000006	Autosomal dominant inheritance	-	OMIM:616631
2224	FDPS	HP:0003596	Middle age onset	2/4	OMIM:616631
2224	FDPS	HP:0200044	Porokeratosis	4/4	OMIM:616631
2224	FDPS	HP:0200044	Porokeratosis	HP:0040281	ORPHA:79152
2224	FDPS	HP:0003621	Juvenile onset	1/4	OMIM:616631
2224	FDPS	HP:0011462	Young adult onset	1/4	OMIM:616631
2224	FDPS	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:79152
2224	FDPS	HP:0000989	Pruritus	HP:0040283	ORPHA:79152
2224	FDPS	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:79152
2232	FDXR	HP:0002465	Poor speech	HP:0040282	ORPHA:543470
2232	FDXR	HP:0010862	Delayed fine motor development	HP:0040281	ORPHA:543470
2232	FDXR	HP:0001276	Hypertonia	HP:0040283	ORPHA:543470
2232	FDXR	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:543470
2232	FDXR	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:543470
2232	FDXR	HP:0001250	Seizure	HP:0040283	ORPHA:543470
2232	FDXR	HP:0001252	Hypotonia	HP:0040282	ORPHA:543470
2232	FDXR	HP:0001251	Ataxia	HP:0040282	ORPHA:543470
2232	FDXR	HP:0001263	Global developmental delay	HP:0040281	ORPHA:543470
2232	FDXR	HP:0001257	Spasticity	HP:0040282	ORPHA:543470
2232	FDXR	HP:0007333	Hypoplasia of the frontal lobes	HP:0040283	ORPHA:543470
2232	FDXR	HP:0008665	Clitoral hypertrophy	HP:0040283	ORPHA:543470
2232	FDXR	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:543470
2232	FDXR	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:543470
2232	FDXR	HP:0012087	Abnormal mitochondrial shape	HP:0040282	ORPHA:543470
2232	FDXR	HP:0000007	Autosomal recessive inheritance	-	OMIM:617717
2232	FDXR	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:543470
2232	FDXR	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:543470
2232	FDXR	HP:0002066	Gait ataxia	HP:0040283	ORPHA:543470
2232	FDXR	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:543470
2232	FDXR	HP:0002134	Abnormal basal ganglia morphology	HP:0040283	ORPHA:543470
2232	FDXR	HP:0002194	Delayed gross motor development	HP:0040281	ORPHA:543470
2232	FDXR	HP:0002376	Developmental regression	HP:0040282	ORPHA:543470
2232	FDXR	HP:0002353	EEG abnormality	HP:0040283	ORPHA:543470
2232	FDXR	HP:0100602	Preeclampsia	HP:0040283	ORPHA:543470
2232	FDXR	HP:0003621	Juvenile onset	5/8	OMIM:617717
2232	FDXR	HP:0000639	Nystagmus	HP:0040283	ORPHA:543470
2232	FDXR	HP:0000639	Nystagmus	1/8	OMIM:617717
2232	FDXR	HP:0000648	Optic atrophy	HP:0040281	ORPHA:543470
2232	FDXR	HP:0000648	Optic atrophy	8/8	OMIM:617717
2232	FDXR	HP:0000618	Blindness	HP:0040283	ORPHA:543470
2232	FDXR	HP:0000603	Central scotoma	HP:0040283	ORPHA:543470
2232	FDXR	HP:0012697	Small basal ganglia	HP:0040283	ORPHA:543470
2232	FDXR	HP:0100022	Abnormality of movement	HP:0040283	ORPHA:543470
2232	FDXR	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:543470
2232	FDXR	HP:0012794	Periventricular white matter hypodensities	HP:0040283	ORPHA:543470
2232	FDXR	HP:0011463	Childhood onset	3/8	OMIM:617717
2232	FDXR	HP:0000252	Microcephaly	HP:0040283	ORPHA:543470
2232	FDXR	HP:0001508	Failure to thrive	HP:0040281	ORPHA:543470
2232	FDXR	HP:0000365	Hearing impairment	8/8	OMIM:617717
2232	FDXR	HP:0001622	Premature birth	HP:0040283	ORPHA:543470
2232	FDXR	HP:0012448	Delayed myelination	HP:0040283	ORPHA:543470
2232	FDXR	HP:0012430	Cerebral white matter hypoplasia	HP:0040283	ORPHA:543470
2232	FDXR	HP:0000518	Cataract	HP:0040283	ORPHA:543470
2232	FDXR	HP:0000510	Rod-cone dystrophy	1/8	OMIM:617717
2232	FDXR	HP:0000505	Visual impairment	HP:0040282	ORPHA:543470
2232	FDXR	HP:0000505	Visual impairment	8/8	OMIM:617717
2235	FECH	HP:6000697	Low tissue ferrochelatase activity	-	OMIM:177000
2235	FECH	HP:0001399	Hepatic failure	-	OMIM:177000
2235	FECH	HP:0001394	Cirrhosis	HP:0040283	ORPHA:79278
2235	FECH	HP:0000007	Autosomal recessive inheritance	-	OMIM:177000
2235	FECH	HP:0001410	Decreased liver function	HP:0040283	ORPHA:79278
2235	FECH	HP:0010472	Abnormal circulating porphyrin concentration	HP:0040281	ORPHA:79278
2235	FECH	HP:0002155	Hypertriglyceridemia	-	OMIM:177000
2235	FECH	HP:0001081	Cholelithiasis	-	OMIM:177000
2235	FECH	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:79278
2235	FECH	HP:0010783	Erythema	-	OMIM:177000
2235	FECH	HP:0010783	Erythema	HP:0040281	ORPHA:79278
2235	FECH	HP:0001935	Microcytic anemia	HP:0040283	ORPHA:79278
2235	FECH	HP:0011463	Childhood onset	-	OMIM:177000
2235	FECH	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:79278
2235	FECH	HP:0000989	Pruritus	-	OMIM:177000
2235	FECH	HP:0000989	Pruritus	HP:0040281	ORPHA:79278
2235	FECH	HP:0000969	Edema	-	OMIM:177000
2235	FECH	HP:0000969	Edema	HP:0040283	ORPHA:79278
2235	FECH	HP:0000964	Eczematoid dermatitis	-	OMIM:177000
2235	FECH	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:79278
2235	FECH	HP:0001878	Hemolytic anemia	-	OMIM:177000
2239	GPC4	HP:0001169	Broad palm	-	OMIM:312870
2239	GPC4	HP:0001156	Brachydactyly	5/9	OMIM:301026
2239	GPC4	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:373
2239	GPC4	HP:0001162	Postaxial hand polydactyly	-	OMIM:312870
2239	GPC4	HP:0009908	Anterior creases of earlobe	4/7	OMIM:312870
2239	GPC4	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:2662
2239	GPC4	HP:0009882	Short distal phalanx of finger	-	OMIM:312870
2239	GPC4	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:373
2239	GPC4	HP:0001274	Agenesis of corpus callosum	1/6	OMIM:312870
2239	GPC4	HP:0001270	Motor delay	8/13	OMIM:312870
2239	GPC4	HP:0001250	Seizure	HP:0040283	ORPHA:373
2239	GPC4	HP:0001252	Hypotonia	HP:0040283	ORPHA:373
2239	GPC4	HP:0001252	Hypotonia	2/6	OMIM:312870
2239	GPC4	HP:0001249	Intellectual disability	HP:0040283	ORPHA:373
2239	GPC4	HP:0001249	Intellectual disability	8/10	OMIM:301026
2239	GPC4	HP:0001263	Global developmental delay	HP:0040283	ORPHA:373
2239	GPC4	HP:0001233	2-3 finger cutaneous syndactyly	-	OMIM:312870
2239	GPC4	HP:0002558	Supernumerary nipple	HP:0040281	ORPHA:373
2239	GPC4	HP:0002558	Supernumerary nipple	5/7	OMIM:312870
2239	GPC4	HP:0002566	Intestinal malrotation	-	OMIM:312870
2239	GPC4	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:373
2239	GPC4	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:373
2239	GPC4	HP:0000098	Tall stature	HP:0040281	ORPHA:373
2239	GPC4	HP:0000098	Tall stature	-	OMIM:312870
2239	GPC4	HP:0000073	Ureteral duplication	HP:0040282	ORPHA:373
2239	GPC4	HP:0000072	Hydroureter	HP:0040282	ORPHA:373
2239	GPC4	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:373
2239	GPC4	HP:0001382	Joint hypermobility	2/10	OMIM:301026
2239	GPC4	HP:0000047	Hypospadias	HP:0040283	ORPHA:373
2239	GPC4	HP:0000047	Hypospadias	-	OMIM:312870
2239	GPC4	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:373
2239	GPC4	HP:0000023	Inguinal hernia	1/7	OMIM:312870
2239	GPC4	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:373
2239	GPC4	HP:0000028	Cryptorchidism	-	OMIM:312870
2239	GPC4	HP:0006176	Two carpal ossification centers present at birth	-	OMIM:312870
2239	GPC4	HP:0002664	Neoplasm	HP:0040283	ORPHA:373
2239	GPC4	HP:0002667	Nephroblastoma	HP:0040283	ORPHA:373
2239	GPC4	HP:0002667	Nephroblastoma	-	OMIM:312870
2239	GPC4	HP:0002667	Nephroblastoma	-	OMIM:194070
2239	GPC4	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:373
2239	GPC4	HP:0000006	Autosomal dominant inheritance	-	OMIM:194070
2239	GPC4	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:373
2239	GPC4	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:312870
2239	GPC4	HP:0002650	Scoliosis	HP:0040282	ORPHA:373
2239	GPC4	HP:0002650	Scoliosis	-	OMIM:312870
2239	GPC4	HP:0002643	Neonatal respiratory distress	1/1	OMIM:312870
2239	GPC4	HP:0000189	Narrow palate	3/6	OMIM:312870
2239	GPC4	HP:0000158	Macroglossia	HP:0040281	ORPHA:373
2239	GPC4	HP:0000158	Macroglossia	11/13	OMIM:312870
2239	GPC4	HP:0000175	Cleft palate	HP:0040282	ORPHA:373
2239	GPC4	HP:0000175	Cleft palate	1/1	OMIM:312870
2239	GPC4	HP:0000154	Wide mouth	HP:0040281	ORPHA:373
2239	GPC4	HP:0000154	Wide mouth	5/7	OMIM:312870
2239	GPC4	HP:0007687	Unilateral ptosis	1/10	OMIM:301026
2239	GPC4	HP:0002705	High, narrow palate	HP:0040282	ORPHA:373
2239	GPC4	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:373
2239	GPC4	HP:0000126	Hydronephrosis	1/1	OMIM:312870
2239	GPC4	HP:0001442	Typified by somatic mosaicism	-	OMIM:194070
2239	GPC4	HP:0000107	Renal cyst	-	OMIM:312870
2239	GPC4	HP:0000105	Enlarged kidney	-	OMIM:312870
2239	GPC4	HP:0001419	X-linked recessive inheritance	-	OMIM:312870
2239	GPC4	HP:0001419	X-linked recessive inheritance	-	OMIM:301026
2239	GPC4	HP:0002714	Downturned corners of mouth	7/9	OMIM:301026
2239	GPC4	HP:0002711	Exaggerated median tongue furrow	4/6	OMIM:312870
2239	GPC4	HP:0002023	Anal atresia	1/1	OMIM:312870
2239	GPC4	HP:0011800	Midface retrusion	7/9	OMIM:301026
2239	GPC4	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2662
2239	GPC4	HP:0003375	Narrow greater sciatic notch	-	OMIM:312870
2239	GPC4	HP:0011710	Bundle branch block	HP:0040282	ORPHA:373
2239	GPC4	HP:0002101	Abnormal lung lobation	-	OMIM:312870
2239	GPC4	HP:0003422	Vertebral segmentation defect	HP:0040281	ORPHA:373
2239	GPC4	HP:0003422	Vertebral segmentation defect	-	OMIM:312870
2239	GPC4	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:373
2239	GPC4	HP:0002164	Nail dysplasia	HP:0040282	ORPHA:373
2239	GPC4	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:373
2239	GPC4	HP:0009536	Short 2nd finger	HP:0040282	ORPHA:373
2239	GPC4	HP:0002263	Exaggerated cupid's bow	-	OMIM:301026
2239	GPC4	HP:0002263	Exaggerated cupid's bow	HP:0040282	ORPHA:2662
2239	GPC4	HP:0002245	Meckel diverticulum	-	OMIM:312870
2239	GPC4	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:373
2239	GPC4	HP:0002240	Hepatomegaly	2/7	OMIM:312870
2239	GPC4	HP:0008416	Six lumbar vertebrae	2/6	OMIM:312870
2239	GPC4	HP:0010624	Aplastic/hypoplastic toenail	HP:0040282	ORPHA:2662
2239	GPC4	HP:0003517	Birth length greater than 97th percentile	5/7	OMIM:312870
2239	GPC4	HP:0008523	Posterior helix pit	-	OMIM:312870
2239	GPC4	HP:0009836	Broad distal phalanx of finger	7/10	OMIM:301026
2239	GPC4	HP:0009836	Broad distal phalanx of finger	HP:0040281	ORPHA:2662
2239	GPC4	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:2662
2239	GPC4	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:373
2239	GPC4	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:2662
2239	GPC4	HP:0010059	Broad hallux phalanx	HP:0040281	ORPHA:2662
2239	GPC4	HP:0004279	Short palm	1/6	OMIM:312870
2239	GPC4	HP:0005580	Duplication of renal pelvis	-	OMIM:312870
2239	GPC4	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:373
2239	GPC4	HP:0010055	Broad hallux	7/9	OMIM:301026
2239	GPC4	HP:0011330	Metopic synostosis	1/1	OMIM:312870
2239	GPC4	HP:0000689	Dental malocclusion	-	OMIM:312870
2239	GPC4	HP:0011304	Broad thumb	5/9	OMIM:301026
2239	GPC4	HP:0011304	Broad thumb	HP:0040281	ORPHA:2662
2239	GPC4	HP:0011304	Broad thumb	HP:0040282	ORPHA:373
2239	GPC4	HP:0011304	Broad thumb	-	OMIM:312870
2239	GPC4	HP:0004322	Short stature	HP:0040283	ORPHA:2662
2239	GPC4	HP:0005616	Accelerated skeletal maturation	HP:0040283	ORPHA:373
2239	GPC4	HP:0005616	Accelerated skeletal maturation	-	OMIM:312870
2239	GPC4	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:373
2239	GPC4	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:2662
2239	GPC4	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	HP:0040281	ORPHA:2662
2239	GPC4	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:373
2239	GPC4	HP:0009101	Submucous cleft lip	-	OMIM:312870
2239	GPC4	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:373
2239	GPC4	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:373
2239	GPC4	HP:0000767	Pectus excavatum	-	OMIM:312870
2239	GPC4	HP:0000768	Pectus carinatum	1/6	OMIM:312870
2239	GPC4	HP:0000750	Delayed speech and language development	5/7	OMIM:312870
2239	GPC4	HP:0000708	Atypical behavior	HP:0040283	ORPHA:2662
2239	GPC4	HP:0010109	Short hallux	HP:0040281	ORPHA:2662
2239	GPC4	HP:0000773	Short ribs	2/6	OMIM:312870
2239	GPC4	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:373
2239	GPC4	HP:0000776	Congenital diaphragmatic hernia	2/7	OMIM:312870
2239	GPC4	HP:0003196	Short nose	HP:0040282	ORPHA:373
2239	GPC4	HP:0003196	Short nose	2/7	OMIM:312870
2239	GPC4	HP:0003185	Short greater sciatic notch	-	OMIM:312870
2239	GPC4	HP:0004467	Preauricular pit	-	OMIM:312870
2239	GPC4	HP:0004464	Postauricular pit	1/1	OMIM:312870
2239	GPC4	HP:0000879	Short sternum	1/6	OMIM:312870
2239	GPC4	HP:0000891	Cervical ribs	-	OMIM:312870
2239	GPC4	HP:0003212	Increased circulating IgE concentration	HP:0040281	ORPHA:373
2239	GPC4	HP:0004510	Pancreatic islet-cell hyperplasia	-	OMIM:312870
2239	GPC4	HP:0004510	Pancreatic islet-cell hyperplasia	HP:0040283	ORPHA:373
2239	GPC4	HP:0000998	Hypertrichosis	1/1	OMIM:312870
2239	GPC4	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040282	ORPHA:373
2239	GPC4	HP:0100259	Postaxial polydactyly	-	OMIM:312870
2239	GPC4	HP:0009381	Short finger	1/1	OMIM:312870
2239	GPC4	HP:0011675	Arrhythmia	-	OMIM:312870
2239	GPC4	HP:0000286	Epicanthus	HP:0040283	ORPHA:373
2239	GPC4	HP:0000286	Epicanthus	2/6	OMIM:312870
2239	GPC4	HP:0000286	Epicanthus	HP:0040282	ORPHA:2662
2239	GPC4	HP:0000280	Coarse facial features	HP:0040281	ORPHA:373
2239	GPC4	HP:0000280	Coarse facial features	6/7	OMIM:312870
2239	GPC4	HP:0000297	Facial hypotonia	1/1	OMIM:312870
2239	GPC4	HP:0000256	Macrocephaly	HP:0040281	ORPHA:373
2239	GPC4	HP:0000256	Macrocephaly	2/7	OMIM:312870
2239	GPC4	HP:0000256	Macrocephaly	7/10	OMIM:301026
2239	GPC4	HP:0000256	Macrocephaly	HP:0040282	ORPHA:2662
2239	GPC4	HP:0030084	Clinodactyly	5/9	OMIM:301026
2239	GPC4	HP:0000243	Trigonocephaly	1/1	OMIM:312870
2239	GPC4	HP:0000238	Hydrocephalus	-	OMIM:312870
2239	GPC4	HP:0002898	Embryonal neoplasm	-	OMIM:312870
2239	GPC4	HP:0002884	Hepatoblastoma	HP:0040283	ORPHA:373
2239	GPC4	HP:0002884	Hepatoblastoma	1/6	OMIM:312870
2239	GPC4	HP:0001548	Overgrowth	4/7	OMIM:312870
2239	GPC4	HP:0000212	Gingival overgrowth	1/1	OMIM:312870
2239	GPC4	HP:0000215	Thick upper lip vermilion	-	OMIM:301026
2239	GPC4	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:373
2239	GPC4	HP:0001561	Polyhydramnios	2/2	OMIM:312870
2239	GPC4	HP:0001522	Death in infancy	HP:0040282	ORPHA:373
2239	GPC4	HP:0001540	Diastasis recti	2/6	OMIM:312870
2239	GPC4	HP:0002869	Flared iliac wing	-	OMIM:312870
2239	GPC4	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:373
2239	GPC4	HP:0001537	Umbilical hernia	2/8	OMIM:312870
2239	GPC4	HP:0001539	Omphalocele	HP:0040282	ORPHA:373
2239	GPC4	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:373
2239	GPC4	HP:0012385	Camptodactyly	3/9	OMIM:301026
2239	GPC4	HP:0000384	Preauricular skin tag	-	OMIM:312870
2239	GPC4	HP:0011039	Abnormal helix morphology	HP:0040282	ORPHA:373
2239	GPC4	HP:0001609	Hoarse voice	HP:0040282	ORPHA:2662
2239	GPC4	HP:0001609	Hoarse voice	HP:0040283	ORPHA:373
2239	GPC4	HP:0001608	Abnormality of the voice	HP:0040283	ORPHA:373
2239	GPC4	HP:0002948	Vertebral fusion	HP:0040281	ORPHA:373
2239	GPC4	HP:0005160	Total anomalous pulmonary venous return	1/1	OMIM:312870
2239	GPC4	HP:0000365	Hearing impairment	-	OMIM:312870
2239	GPC4	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:373
2239	GPC4	HP:0000369	Low-set ears	5/9	OMIM:301026
2239	GPC4	HP:0001669	Transposition of the great arteries	-	OMIM:312870
2239	GPC4	HP:0000337	Broad forehead	5/6	OMIM:312870
2239	GPC4	HP:0000337	Broad forehead	HP:0040281	ORPHA:2662
2239	GPC4	HP:0001667	Right ventricular hypertrophy	1/6	OMIM:312870
2239	GPC4	HP:0000316	Hypertelorism	HP:0040281	ORPHA:373
2239	GPC4	HP:0000316	Hypertelorism	9/9	OMIM:301026
2239	GPC4	HP:0000316	Hypertelorism	5/7	OMIM:312870
2239	GPC4	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2662
2239	GPC4	HP:0001643	Patent ductus arteriosus	-	OMIM:312870
2239	GPC4	HP:0001642	Pulmonic stenosis	1/1	OMIM:312870
2239	GPC4	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:2662
2239	GPC4	HP:0001657	Prolonged QT interval	HP:0040282	ORPHA:373
2239	GPC4	HP:0001629	Ventricular septal defect	HP:0040281	ORPHA:373
2239	GPC4	HP:0001629	Ventricular septal defect	1/1	OMIM:312870
2239	GPC4	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:373
2239	GPC4	HP:0001638	Cardiomyopathy	-	OMIM:312870
2239	GPC4	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:373
2239	GPC4	HP:0001631	Atrial septal defect	1/1	OMIM:312870
2239	GPC4	HP:0000303	Mandibular prognathia	HP:0040281	ORPHA:373
2239	GPC4	HP:0000303	Mandibular prognathia	1/1	OMIM:312870
2239	GPC4	HP:0006610	Wide intermamillary distance	1/1	OMIM:312870
2239	GPC4	HP:0000407	Sensorineural hearing impairment	3/9	OMIM:301026
2239	GPC4	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2662
2239	GPC4	HP:0005280	Depressed nasal bridge	1/1	OMIM:312870
2239	GPC4	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:2662
2239	GPC4	HP:0000486	Strabismus	2/10	OMIM:301026
2239	GPC4	HP:0012471	Thick vermilion border	4/6	OMIM:312870
2239	GPC4	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:373
2239	GPC4	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:312870
2239	GPC4	HP:0001792	Small nail	HP:0040282	ORPHA:373
2239	GPC4	HP:0000463	Anteverted nares	HP:0040282	ORPHA:373
2239	GPC4	HP:0000463	Anteverted nares	2/7	OMIM:312870
2239	GPC4	HP:0000470	Short neck	HP:0040282	ORPHA:373
2239	GPC4	HP:0000465	Webbed neck	HP:0040282	ORPHA:373
2239	GPC4	HP:0001799	Short nail	1/1	OMIM:312870
2239	GPC4	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:373
2239	GPC4	HP:0001773	Short foot	HP:0040281	ORPHA:373
2239	GPC4	HP:0001773	Short foot	-	OMIM:312870
2239	GPC4	HP:0001769	Broad foot	HP:0040281	ORPHA:373
2239	GPC4	HP:0001769	Broad foot	-	OMIM:312870
2239	GPC4	HP:0000448	Prominent nose	-	OMIM:301026
2239	GPC4	HP:0000445	Wide nose	9/9	OMIM:301026
2239	GPC4	HP:0001748	Polysplenia	HP:0040283	ORPHA:373
2239	GPC4	HP:0001748	Polysplenia	-	OMIM:312870
2239	GPC4	HP:0001744	Splenomegaly	HP:0040281	ORPHA:373
2239	GPC4	HP:0001744	Splenomegaly	1/6	OMIM:312870
2239	GPC4	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:373
2239	GPC4	HP:0001762	Talipes equinovarus	-	OMIM:312870
2239	GPC4	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:373
2239	GPC4	HP:0000431	Wide nasal bridge	1/1	OMIM:312870
2239	GPC4	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:2662
2239	GPC4	HP:0001837	Broad toe	-	OMIM:312870
2239	GPC4	HP:0000508	Ptosis	HP:0040282	ORPHA:2662
2239	GPC4	HP:0001831	Short toe	HP:0040281	ORPHA:373
2239	GPC4	HP:0001802	Absent toenail	1/10	OMIM:301026
2239	GPC4	HP:0011220	Prominent forehead	7/9	OMIM:301026
2243	FGA	HP:0003819	Death in childhood	3/10	OMIM:202400
2243	FGA	HP:0003811	Neonatal death	2/10	OMIM:202400
2243	FGA	HP:0000093	Proteinuria	-	OMIM:105200
2243	FGA	HP:0001396	Cholestasis	-	OMIM:105200
2243	FGA	HP:0001386	Joint swelling	HP:0040281	ORPHA:98880
2243	FGA	HP:0001342	Cerebral hemorrhage	HP:0040283	ORPHA:98880
2243	FGA	HP:0000007	Autosomal recessive inheritance	-	OMIM:202400
2243	FGA	HP:0000006	Autosomal dominant inheritance	-	OMIM:105200
2243	FGA	HP:0006298	Prolonged bleeding after dental extraction	1/10	OMIM:202400
2243	FGA	HP:0000100	Nephrotic syndrome	3/3	OMIM:105200
2243	FGA	HP:0000112	Nephropathy	-	OMIM:105200
2243	FGA	HP:0011900	Hypofibrinogenemia	-	OMIM:202400
2243	FGA	HP:0011884	Abnormal umbilical stump bleeding	4/10	OMIM:202400
2243	FGA	HP:0003593	Infantile onset	4/13	OMIM:202400
2243	FGA	HP:0003577	Congenital onset	5/13	OMIM:202400
2243	FGA	HP:0002240	Hepatomegaly	-	OMIM:105200
2243	FGA	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:98881
2243	FGA	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:101041
2243	FGA	HP:0003581	Adult onset	3/3	OMIM:105200
2243	FGA	HP:0002248	Hematemesis	1/10	OMIM:202400
2243	FGA	HP:0009830	Peripheral neuropathy	0/3	OMIM:105200
2243	FGA	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:98881
2243	FGA	HP:0001934	Persistent bleeding after trauma	1/10	OMIM:202400
2243	FGA	HP:0001917	Renal amyloidosis	3/3	OMIM:105200
2243	FGA	HP:0400008	Menometrorrhagia	HP:0040281	ORPHA:98880
2243	FGA	HP:0011463	Childhood onset	4/13	OMIM:202400
2243	FGA	HP:0000790	Hematuria	-	OMIM:105200
2243	FGA	HP:0011421	Death in adolescence	1/10	OMIM:202400
2243	FGA	HP:0100310	Epidural hemorrhage	1/10	OMIM:202400
2243	FGA	HP:0034287	Afibrinogenemia	23/23	OMIM:202400
2243	FGA	HP:0100309	Subdural hemorrhage	1/10	OMIM:202400
2243	FGA	HP:0000822	Hypertension	-	OMIM:105200
2243	FGA	HP:0003216	Generalized amyloid deposition	-	OMIM:105200
2243	FGA	HP:0000978	Bruising susceptibility	1/10	OMIM:202400
2243	FGA	HP:0000988	Skin rash	-	OMIM:105200
2243	FGA	HP:0000969	Edema	-	OMIM:105200
2243	FGA	HP:0012223	Splenic rupture	2/10	OMIM:202400
2243	FGA	HP:0000225	Gingival bleeding	2/10	OMIM:202400
2243	FGA	HP:0000225	Gingival bleeding	HP:0040281	ORPHA:98880
2243	FGA	HP:0000225	Gingival bleeding	HP:0040281	ORPHA:98881
2243	FGA	HP:0000225	Gingival bleeding	HP:0040281	ORPHA:101041
2243	FGA	HP:0001522	Death in infancy	2/10	OMIM:202400
2243	FGA	HP:0005268	Miscarriage	HP:0040281	ORPHA:98880
2243	FGA	HP:0030137	Prolonged bleeding following circumcision	3/6	OMIM:202400
2243	FGA	HP:0001744	Splenomegaly	-	OMIM:105200
2243	FGA	HP:0000421	Epistaxis	3/10	OMIM:202400
2243	FGA	HP:0000421	Epistaxis	HP:0040281	ORPHA:98880
2243	FGA	HP:0000421	Epistaxis	HP:0040281	ORPHA:98881
2243	FGA	HP:0000421	Epistaxis	HP:0040281	ORPHA:101041
2243	FGA	HP:0001892	Abnormal bleeding	23/23	OMIM:202400
2243	FGA	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:98880
2243	FGA	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:98881
2243	FGA	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:101041
2244	FGB	HP:0003819	Death in childhood	3/10	OMIM:202400
2244	FGB	HP:0003811	Neonatal death	2/10	OMIM:202400
2244	FGB	HP:0001386	Joint swelling	HP:0040281	ORPHA:98880
2244	FGB	HP:0001342	Cerebral hemorrhage	HP:0040283	ORPHA:98880
2244	FGB	HP:0000007	Autosomal recessive inheritance	-	OMIM:202400
2244	FGB	HP:0006298	Prolonged bleeding after dental extraction	1/10	OMIM:202400
2244	FGB	HP:0011900	Hypofibrinogenemia	-	OMIM:202400
2244	FGB	HP:0011884	Abnormal umbilical stump bleeding	4/10	OMIM:202400
2244	FGB	HP:0003593	Infantile onset	4/13	OMIM:202400
2244	FGB	HP:0003577	Congenital onset	5/13	OMIM:202400
2244	FGB	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:98881
2244	FGB	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:101041
2244	FGB	HP:0002248	Hematemesis	1/10	OMIM:202400
2244	FGB	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:98881
2244	FGB	HP:0001934	Persistent bleeding after trauma	1/10	OMIM:202400
2244	FGB	HP:0400008	Menometrorrhagia	HP:0040281	ORPHA:98880
2244	FGB	HP:0011463	Childhood onset	4/13	OMIM:202400
2244	FGB	HP:0011421	Death in adolescence	1/10	OMIM:202400
2244	FGB	HP:0100310	Epidural hemorrhage	1/10	OMIM:202400
2244	FGB	HP:0034287	Afibrinogenemia	23/23	OMIM:202400
2244	FGB	HP:0100309	Subdural hemorrhage	1/10	OMIM:202400
2244	FGB	HP:0000978	Bruising susceptibility	1/10	OMIM:202400
2244	FGB	HP:0012223	Splenic rupture	2/10	OMIM:202400
2244	FGB	HP:0000225	Gingival bleeding	2/10	OMIM:202400
2244	FGB	HP:0000225	Gingival bleeding	HP:0040281	ORPHA:98880
2244	FGB	HP:0000225	Gingival bleeding	HP:0040281	ORPHA:98881
2244	FGB	HP:0000225	Gingival bleeding	HP:0040281	ORPHA:101041
2244	FGB	HP:0001522	Death in infancy	2/10	OMIM:202400
2244	FGB	HP:0005268	Miscarriage	HP:0040281	ORPHA:98880
2244	FGB	HP:0030137	Prolonged bleeding following circumcision	3/6	OMIM:202400
2244	FGB	HP:0000421	Epistaxis	3/10	OMIM:202400
2244	FGB	HP:0000421	Epistaxis	HP:0040281	ORPHA:98880
2244	FGB	HP:0000421	Epistaxis	HP:0040281	ORPHA:98881
2244	FGB	HP:0000421	Epistaxis	HP:0040281	ORPHA:101041
2244	FGB	HP:0001892	Abnormal bleeding	23/23	OMIM:202400
2244	FGB	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:98880
2244	FGB	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:98881
2244	FGB	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:101041
2245	FGD1	HP:0001169	Broad palm	22/22	OMIM:305400
2245	FGD1	HP:0001169	Broad palm	HP:0040281	ORPHA:915
2245	FGD1	HP:0001187	Hyperextensibility of the finger joints	3/12	OMIM:305400
2245	FGD1	HP:0001156	Brachydactyly	4/4	OMIM:305400
2245	FGD1	HP:0001159	Syndactyly	-	OMIM:305400
2245	FGD1	HP:0032277	Lozenge-shaped umbilicus	3/5	OMIM:305400
2245	FGD1	HP:0009890	High anterior hairline	HP:0040282	ORPHA:915
2245	FGD1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2245	FGD1	HP:0001293	Cranial nerve compression	-	OMIM:131300
2245	FGD1	HP:0001256	Intellectual disability, mild	HP:0040284	OMIM:305400
2245	FGD1	HP:0001252	Hypotonia	2/7	OMIM:615777
2245	FGD1	HP:0001249	Intellectual disability	0/2	OMIM:305400
2245	FGD1	HP:0001249	Intellectual disability	5/7	OMIM:615777
2245	FGD1	HP:0001263	Global developmental delay	5/13	OMIM:305400
2245	FGD1	HP:0001263	Global developmental delay	-	OMIM:615777
2245	FGD1	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:915
2245	FGD1	HP:0008689	Bilateral cryptorchidism	1/1	OMIM:305400
2245	FGD1	HP:0002515	Waddling gait	54/102	OMIM:131300
2245	FGD1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:915
2245	FGD1	HP:0001382	Joint hypermobility	1/1	OMIM:305400
2245	FGD1	HP:0001382	Joint hypermobility	-	OMIM:615777
2245	FGD1	HP:0000047	Hypospadias	1/11	OMIM:305400
2245	FGD1	HP:0000049	Shawl scrotum	2/2	OMIM:305400
2245	FGD1	HP:0000049	Shawl scrotum	HP:0040281	ORPHA:915
2245	FGD1	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:915
2245	FGD1	HP:0000023	Inguinal hernia	4/14	OMIM:305400
2245	FGD1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2245	FGD1	HP:0000029	Testicular atrophy	1/1	OMIM:305400
2245	FGD1	HP:0000028	Cryptorchidism	0/2	OMIM:305400
2245	FGD1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:915
2245	FGD1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2245	FGD1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2245	FGD1	HP:0001324	Muscle weakness	40/96	OMIM:131300
2245	FGD1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2245	FGD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2245	FGD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2245	FGD1	HP:0002650	Scoliosis	-	OMIM:305400
2245	FGD1	HP:0002650	Scoliosis	12/14	OMIM:131300
2245	FGD1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2245	FGD1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2245	FGD1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2245	FGD1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2245	FGD1	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:915
2245	FGD1	HP:0000175	Cleft palate	HP:0040283	ORPHA:915
2245	FGD1	HP:0000175	Cleft palate	-	OMIM:305400
2245	FGD1	HP:0000175	Cleft palate	2/7	OMIM:615777
2245	FGD1	HP:0002750	Delayed skeletal maturation	5/8	OMIM:305400
2245	FGD1	HP:0001419	X-linked recessive inheritance	-	OMIM:305400
2245	FGD1	HP:0002007	Frontal bossing	4/11	OMIM:305400
2245	FGD1	HP:0003311	Hypoplasia of the odontoid process	-	OMIM:305400
2245	FGD1	HP:0003318	Cervical spine hypermobility	-	OMIM:305400
2245	FGD1	HP:0003319	Abnormality of the cervical spine	HP:0040283	ORPHA:915
2245	FGD1	HP:0011800	Midface retrusion	4/11	OMIM:305400
2245	FGD1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:915
2245	FGD1	HP:0003388	Easy fatigability	36/76	OMIM:131300
2245	FGD1	HP:0002055	Curved linear dimple below the lower lip	6/11	OMIM:305400
2245	FGD1	HP:0009466	Radial deviation of finger	-	OMIM:305400
2245	FGD1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2245	FGD1	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:915
2245	FGD1	HP:0008232	Elevated circulating follicle stimulating hormone level	1/1	OMIM:305400
2245	FGD1	HP:0009748	Large earlobe	-	OMIM:305400
2245	FGD1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:915
2245	FGD1	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:305400
2245	FGD1	HP:0011969	Elevated circulating luteinizing hormone level	1/1	OMIM:305400
2245	FGD1	HP:0003510	Severe short stature	7/7	OMIM:615777
2245	FGD1	HP:0003502	Mild short stature	-	OMIM:305400
2245	FGD1	HP:0002315	Headache	-	OMIM:131300
2245	FGD1	HP:0004976	Knee dislocation	6/7	OMIM:615777
2245	FGD1	HP:0009803	Short phalanx of finger	-	OMIM:615777
2245	FGD1	HP:0200055	Small hand	HP:0040281	ORPHA:915
2245	FGD1	HP:0009763	Limb pain	63/92	OMIM:131300
2245	FGD1	HP:0003621	Juvenile onset	-	OMIM:131300
2245	FGD1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2245	FGD1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:915
2245	FGD1	HP:0004209	Clinodactyly of the 5th finger	8/11	OMIM:305400
2245	FGD1	HP:0004279	Short palm	11/11	OMIM:305400
2245	FGD1	HP:0004279	Short palm	HP:0040281	ORPHA:915
2245	FGD1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2245	FGD1	HP:6001056	Out-toeing	-	OMIM:131300
2245	FGD1	HP:0000651	Diplopia	-	OMIM:131300
2245	FGD1	HP:0001956	Truncal obesity	2/7	OMIM:615777
2245	FGD1	HP:0001903	Anemia	HP:0040283	OMIM:131300
2245	FGD1	HP:0010049	Short metacarpal	-	OMIM:615777
2245	FGD1	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:915
2245	FGD1	HP:0000678	Dental crowding	-	OMIM:615777
2245	FGD1	HP:0000689	Dental malocclusion	1/11	OMIM:305400
2245	FGD1	HP:0000670	Carious teeth	-	OMIM:131300
2245	FGD1	HP:0011304	Broad thumb	2/7	OMIM:615777
2245	FGD1	HP:0000668	Hypodontia	-	OMIM:305400
2245	FGD1	HP:0000668	Hypodontia	-	OMIM:615777
2245	FGD1	HP:0000664	Synophrys	-	OMIM:615777
2245	FGD1	HP:0004322	Short stature	16/16	OMIM:305400
2245	FGD1	HP:0004322	Short stature	HP:0040281	ORPHA:915
2245	FGD1	HP:0005640	Abnormal vertebral segmentation and fusion	HP:0040283	ORPHA:915
2245	FGD1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:915
2245	FGD1	HP:0004396	Poor appetite	-	OMIM:131300
2245	FGD1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2245	FGD1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2245	FGD1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2245	FGD1	HP:0003026	Short long bone	7/7	OMIM:615777
2245	FGD1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2245	FGD1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:915
2245	FGD1	HP:0000767	Pectus excavatum	-	OMIM:305400
2245	FGD1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2245	FGD1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2245	FGD1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2245	FGD1	HP:0000750	Delayed speech and language development	-	OMIM:615777
2245	FGD1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:915
2245	FGD1	HP:0011463	Childhood onset	1/1	OMIM:305400
2245	FGD1	HP:0011461	Fetal onset	7/7	OMIM:615777
2245	FGD1	HP:0012774	Increased upper to lower segment ratio	-	OMIM:305400
2245	FGD1	HP:0000774	Narrow chest	2/7	OMIM:615777
2245	FGD1	HP:0003196	Short nose	14/16	OMIM:305400
2245	FGD1	HP:0000926	Platyspondyly	1/7	OMIM:615777
2245	FGD1	HP:0003180	Flat acetabular roof	-	OMIM:615777
2245	FGD1	HP:0004482	Relative macrocephaly	2/3	OMIM:305400
2245	FGD1	HP:0004482	Relative macrocephaly	-	OMIM:615777
2245	FGD1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2245	FGD1	HP:0000823	Delayed puberty	-	OMIM:305400
2245	FGD1	HP:0000823	Delayed puberty	-	OMIM:131300
2245	FGD1	HP:0000894	Short clavicles	-	OMIM:615777
2245	FGD1	HP:0009237	Short 5th finger	8/11	OMIM:305400
2245	FGD1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2245	FGD1	HP:0000974	Hyperextensible skin	HP:0040282	ORPHA:915
2245	FGD1	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:915
2245	FGD1	HP:0000954	Single transverse palmar crease	6/13	OMIM:305400
2245	FGD1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2245	FGD1	HP:0040171	Decreased serum testosterone concentration	1/1	OMIM:305400
2245	FGD1	HP:0000286	Epicanthus	HP:0040283	ORPHA:915
2245	FGD1	HP:0000286	Epicanthus	1/7	OMIM:615777
2245	FGD1	HP:0000280	Coarse facial features	2/7	OMIM:615777
2245	FGD1	HP:0000289	Broad philtrum	13/13	OMIM:305400
2245	FGD1	HP:0002816	Genu recurvatum	HP:0040283	ORPHA:915
2245	FGD1	HP:0002827	Hip dislocation	3/7	OMIM:615777
2245	FGD1	HP:0000252	Microcephaly	1/3	OMIM:305400
2245	FGD1	HP:0000252	Microcephaly	-	OMIM:615777
2245	FGD1	HP:0000218	High palate	2/2	OMIM:305400
2245	FGD1	HP:0001544	Prominent umbilicus	2/5	OMIM:305400
2245	FGD1	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:915
2245	FGD1	HP:0002857	Genu valgum	-	OMIM:131300
2245	FGD1	HP:0001537	Umbilical hernia	HP:0040281	ORPHA:915
2245	FGD1	HP:0001537	Umbilical hernia	3/14	OMIM:305400
2245	FGD1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:915
2245	FGD1	HP:0001533	Slender build	-	OMIM:131300
2245	FGD1	HP:0000204	Cleft upper lip	-	OMIM:305400
2245	FGD1	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:915
2245	FGD1	HP:0001508	Failure to thrive	-	OMIM:305400
2245	FGD1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2245	FGD1	HP:0001513	Obesity	4/11	OMIM:305400
2245	FGD1	HP:0007807	Optic nerve compression	-	OMIM:131300
2245	FGD1	HP:0012385	Camptodactyly	5/11	OMIM:305400
2245	FGD1	HP:0000384	Preauricular skin tag	1/11	OMIM:305400
2245	FGD1	HP:0012368	Flat face	7/7	OMIM:615777
2245	FGD1	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:915
2245	FGD1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2245	FGD1	HP:0000365	Hearing impairment	10/67	OMIM:131300
2245	FGD1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:915
2245	FGD1	HP:0000343	Long philtrum	HP:0040282	ORPHA:915
2245	FGD1	HP:0000343	Long philtrum	9/11	OMIM:305400
2245	FGD1	HP:0000343	Long philtrum	1/7	OMIM:615777
2245	FGD1	HP:0011001	Increased bone mineral density	-	OMIM:131300
2245	FGD1	HP:0000337	Broad forehead	HP:0040282	ORPHA:915
2245	FGD1	HP:0000349	Widow's peak	9/14	OMIM:305400
2245	FGD1	HP:0000347	Micrognathia	2/2	OMIM:305400
2245	FGD1	HP:0000316	Hypertelorism	17/17	OMIM:305400
2245	FGD1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:915
2245	FGD1	HP:0000311	Round face	1/1	OMIM:305400
2245	FGD1	HP:0000311	Round face	2/7	OMIM:615777
2245	FGD1	HP:0000311	Round face	HP:0040283	ORPHA:915
2245	FGD1	HP:0000327	Hypoplasia of the maxilla	-	OMIM:305400
2245	FGD1	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:915
2245	FGD1	HP:0002970	Genu varum	-	OMIM:615777
2245	FGD1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:915
2245	FGD1	HP:0000307	Pointed chin	2/2	OMIM:305400
2245	FGD1	HP:0000303	Mandibular prognathia	-	OMIM:131300
2245	FGD1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2245	FGD1	HP:0000486	Strabismus	-	OMIM:305400
2245	FGD1	HP:0000486	Strabismus	HP:0040283	ORPHA:915
2245	FGD1	HP:0000485	Megalocornea	HP:0040283	ORPHA:915
2245	FGD1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:915
2245	FGD1	HP:0000494	Downslanted palpebral fissures	7/14	OMIM:305400
2245	FGD1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:915
2245	FGD1	HP:0000463	Anteverted nares	14/16	OMIM:305400
2245	FGD1	HP:0000470	Short neck	HP:0040283	ORPHA:915
2245	FGD1	HP:0000470	Short neck	11/11	OMIM:305400
2245	FGD1	HP:0000470	Short neck	1/7	OMIM:615777
2245	FGD1	HP:0001773	Short foot	-	OMIM:305400
2245	FGD1	HP:0001773	Short foot	HP:0040281	ORPHA:915
2245	FGD1	HP:0001769	Broad foot	8/11	OMIM:305400
2245	FGD1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2245	FGD1	HP:0001769	Broad foot	HP:0040281	ORPHA:915
2245	FGD1	HP:0001763	Pes planus	HP:0040283	ORPHA:915
2245	FGD1	HP:0001763	Pes planus	1/1	OMIM:305400
2245	FGD1	HP:0001763	Pes planus	1/7	OMIM:615777
2245	FGD1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:915
2245	FGD1	HP:0000431	Wide nasal bridge	1/1	OMIM:305400
2245	FGD1	HP:0001840	Metatarsus adductus	5/13	OMIM:305400
2245	FGD1	HP:0001840	Metatarsus adductus	-	OMIM:615777
2245	FGD1	HP:0000520	Proptosis	2/4	OMIM:131300
2245	FGD1	HP:0000520	Proptosis	7/7	OMIM:615777
2245	FGD1	HP:0000508	Ptosis	9/16	OMIM:305400
2245	FGD1	HP:0000508	Ptosis	HP:0040282	ORPHA:915
2245	FGD1	HP:0000592	Blue sclerae	2/7	OMIM:615777
2245	FGD1	HP:0000540	Hypermetropia	-	OMIM:305400
2245	FGD1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2245	FGD1	HP:0001883	Talipes	HP:0040283	ORPHA:915
2245	FGD1	HP:0012514	Lower limb pain	4/4	OMIM:131300
2248	FGF3	HP:0003771	Pulp calcification	HP:0040282	ORPHA:2791
2248	FGF3	HP:0008551	Microtia	HP:0040281	ORPHA:90024
2248	FGF3	HP:0001291	Abnormal cranial nerve morphology	HP:0040281	ORPHA:90024
2248	FGF3	HP:0000098	Tall stature	HP:0040283	ORPHA:90024
2248	FGF3	HP:0000007	Autosomal recessive inheritance	-	OMIM:610706
2248	FGF3	HP:0006342	Peg-shaped maxillary lateral incisors	-	OMIM:610706
2248	FGF3	HP:0010609	Skin tags	HP:0040283	ORPHA:90024
2248	FGF3	HP:0010609	Skin tags	-	OMIM:610706
2248	FGF3	HP:0002194	Delayed gross motor development	9/9	OMIM:610706
2248	FGF3	HP:0003577	Congenital onset	9/9	OMIM:610706
2248	FGF3	HP:0100719	Lens coloboma	HP:0040283	ORPHA:2791
2248	FGF3	HP:6000376	Jugular foramen stenosis	3/4	OMIM:610706
2248	FGF3	HP:0008499	High hypermetropia	HP:0040283	ORPHA:90024
2248	FGF3	HP:0000612	Iris coloboma	HP:0040283	ORPHA:2791
2248	FGF3	HP:0011372	Aplasia of the inner ear	HP:0040281	ORPHA:90024
2248	FGF3	HP:0011372	Aplasia of the inner ear	9/9	OMIM:610706
2248	FGF3	HP:0000698	Conical tooth	HP:0040281	ORPHA:90024
2248	FGF3	HP:0000698	Conical tooth	-	OMIM:610706
2248	FGF3	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:2791
2248	FGF3	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:2791
2248	FGF3	HP:0000679	Taurodontia	HP:0040282	ORPHA:2791
2248	FGF3	HP:0000691	Microdontia	HP:0040281	ORPHA:90024
2248	FGF3	HP:0000691	Microdontia	12/12	OMIM:610706
2248	FGF3	HP:0000687	Widely spaced teeth	HP:0040281	ORPHA:90024
2248	FGF3	HP:0000687	Widely spaced teeth	9/9	OMIM:610706
2248	FGF3	HP:0000670	Carious teeth	HP:0040281	ORPHA:2791
2248	FGF3	HP:0000668	Hypodontia	HP:0040283	ORPHA:90024
2248	FGF3	HP:0000664	Synophrys	HP:0040283	ORPHA:90024
2248	FGF3	HP:0000704	Periodontitis	HP:0040282	ORPHA:2791
2248	FGF3	HP:0011476	Profound sensorineural hearing impairment	9/9	OMIM:610706
2248	FGF3	HP:0040080	Anteverted ears	11/13	OMIM:610706
2248	FGF3	HP:0000293	Full cheeks	HP:0040282	ORPHA:2791
2248	FGF3	HP:0000276	Long face	-	OMIM:610706
2248	FGF3	HP:0000276	Long face	HP:0040282	ORPHA:2791
2248	FGF3	HP:0000276	Long face	HP:0040282	ORPHA:90024
2248	FGF3	HP:0006479	Abnormal dental pulp morphology	HP:0040281	ORPHA:2791
2248	FGF3	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:2791
2248	FGF3	HP:0031353	Otitis media with effusion	HP:0040283	ORPHA:2791
2248	FGF3	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:90024
2248	FGF3	HP:0011078	Abnormality of canine	HP:0040281	ORPHA:2791
2248	FGF3	HP:0011070	Abnormal molar morphology	HP:0040281	ORPHA:2791
2248	FGF3	HP:0011068	Odontoma	HP:0040283	ORPHA:2791
2248	FGF3	HP:0011051	Agenesis of premolar	HP:0040282	ORPHA:2791
2248	FGF3	HP:0000365	Hearing impairment	HP:0040281	ORPHA:90024
2248	FGF3	HP:0000343	Long philtrum	HP:0040282	ORPHA:2791
2248	FGF3	HP:0000347	Micrognathia	-	OMIM:610706
2248	FGF3	HP:0000347	Micrognathia	HP:0040282	ORPHA:90024
2248	FGF3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:90024
2248	FGF3	HP:0000326	Abnormal maxilla morphology	HP:0040282	ORPHA:2791
2248	FGF3	HP:0000307	Pointed chin	HP:0040282	ORPHA:90024
2248	FGF3	HP:0000408	Progressive sensorineural hearing impairment	HP:0040281	ORPHA:2791
2248	FGF3	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:90024
2248	FGF3	HP:0000486	Strabismus	HP:0040283	ORPHA:90024
2248	FGF3	HP:0000480	Retinal coloboma	HP:0040283	ORPHA:2791
2248	FGF3	HP:0000482	Microcornea	HP:0040283	ORPHA:2791
2248	FGF3	HP:0000494	Downslanted palpebral fissures	3/4	OMIM:610706
2248	FGF3	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:90024
2248	FGF3	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2791
2248	FGF3	HP:0000448	Prominent nose	HP:0040283	ORPHA:90024
2248	FGF3	HP:0000448	Prominent nose	2/4	OMIM:610706
2248	FGF3	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:90024
2248	FGF3	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:90024
2248	FGF3	HP:0001757	High-frequency sensorineural hearing impairment	HP:0040282	ORPHA:2791
2248	FGF3	HP:0000518	Cataract	HP:0040283	ORPHA:2791
2248	FGF3	HP:0011266	Microtia, first degree	13/13	OMIM:610706
2248	FGF3	HP:0000568	Microphthalmia	HP:0040283	ORPHA:2791
2250	FGF5	HP:0000007	Autosomal recessive inheritance	-	OMIM:190330
2250	FGF5	HP:0000518	Cataract	-	OMIM:190330
2250	FGF5	HP:0000527	Long eyelashes	-	OMIM:190330
2253	FGF8	HP:0002465	Poor speech	HP:0040283	ORPHA:93926
2253	FGF8	HP:0002465	Poor speech	HP:0040282	ORPHA:93924
2253	FGF8	HP:0002465	Poor speech	HP:0040283	ORPHA:93925
2253	FGF8	HP:0002465	Poor speech	HP:0040283	ORPHA:220386
2253	FGF8	HP:0002474	Expressive language delay	HP:0040282	ORPHA:280195
2253	FGF8	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:432
2253	FGF8	HP:0002451	Limb dystonia	HP:0040282	ORPHA:220386
2253	FGF8	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93926
2253	FGF8	HP:0002451	Limb dystonia	HP:0040283	ORPHA:93924
2253	FGF8	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93925
2253	FGF8	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:220386
2253	FGF8	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93926
2253	FGF8	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:93924
2253	FGF8	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93925
2253	FGF8	HP:0009932	Single naris	HP:0040283	ORPHA:220386
2253	FGF8	HP:0009932	Single naris	HP:0040283	ORPHA:93926
2253	FGF8	HP:0009932	Single naris	HP:0040284	ORPHA:93924
2253	FGF8	HP:0009932	Single naris	HP:0040283	ORPHA:93925
2253	FGF8	HP:0009914	Cyclopia	HP:0040283	ORPHA:280200
2253	FGF8	HP:0009914	Cyclopia	HP:0040283	ORPHA:220386
2253	FGF8	HP:0009914	Cyclopia	HP:0040283	ORPHA:93926
2253	FGF8	HP:0009914	Cyclopia	HP:0040284	ORPHA:93924
2253	FGF8	HP:0009914	Cyclopia	HP:0040283	ORPHA:93925
2253	FGF8	HP:0002418	Abnormal midbrain morphology	HP:0040282	ORPHA:280195
2253	FGF8	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2253	FGF8	HP:0001293	Cranial nerve compression	-	OMIM:131300
2253	FGF8	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:280195
2253	FGF8	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280200
2253	FGF8	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93926
2253	FGF8	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93924
2253	FGF8	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93925
2253	FGF8	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220386
2253	FGF8	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:280195
2253	FGF8	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
2253	FGF8	HP:0001254	Lethargy	HP:0040282	ORPHA:93926
2253	FGF8	HP:0001254	Lethargy	HP:0040283	ORPHA:93924
2253	FGF8	HP:0001254	Lethargy	HP:0040282	ORPHA:93925
2253	FGF8	HP:0001254	Lethargy	HP:0040282	ORPHA:220386
2253	FGF8	HP:0001250	Seizure	HP:0040282	ORPHA:220386
2253	FGF8	HP:0001250	Seizure	HP:0040283	ORPHA:280200
2253	FGF8	HP:0001250	Seizure	HP:0040282	ORPHA:93926
2253	FGF8	HP:0001250	Seizure	HP:0040283	ORPHA:93924
2253	FGF8	HP:0001250	Seizure	HP:0040282	ORPHA:93925
2253	FGF8	HP:0001250	Seizure	HP:0040283	ORPHA:478
2253	FGF8	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
2253	FGF8	HP:0001252	Hypotonia	2/7	OMIM:615777
2253	FGF8	HP:0001251	Ataxia	HP:0040283	ORPHA:478
2253	FGF8	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280195
2253	FGF8	HP:0001249	Intellectual disability	HP:0040282	ORPHA:220386
2253	FGF8	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280200
2253	FGF8	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93926
2253	FGF8	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93924
2253	FGF8	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93925
2253	FGF8	HP:0001249	Intellectual disability	5/7	OMIM:615777
2253	FGF8	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
2253	FGF8	HP:0001263	Global developmental delay	-	OMIM:615777
2253	FGF8	HP:0001257	Spasticity	HP:0040282	ORPHA:93926
2253	FGF8	HP:0001257	Spasticity	HP:0040283	ORPHA:93924
2253	FGF8	HP:0001257	Spasticity	HP:0040282	ORPHA:93925
2253	FGF8	HP:0001257	Spasticity	HP:0040282	ORPHA:220386
2253	FGF8	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:432
2253	FGF8	HP:0008734	Decreased testicular size	1/1	OMIM:146110
2253	FGF8	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
2253	FGF8	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:280200
2253	FGF8	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
2253	FGF8	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:432
2253	FGF8	HP:0007375	Abnormal septum pellucidum morphology	HP:0040283	ORPHA:280195
2253	FGF8	HP:0007330	Frontoethmoidal encephalocele	HP:0040283	ORPHA:280195
2253	FGF8	HP:0002540	Inability to walk	HP:0040282	ORPHA:93926
2253	FGF8	HP:0002540	Inability to walk	HP:0040284	ORPHA:93924
2253	FGF8	HP:0002540	Inability to walk	HP:0040282	ORPHA:93925
2253	FGF8	HP:0002540	Inability to walk	HP:0040282	ORPHA:220386
2253	FGF8	HP:0002515	Waddling gait	54/102	OMIM:131300
2253	FGF8	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:280200
2253	FGF8	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:432
2253	FGF8	HP:0000044	Hypogonadotropic hypogonadism	5/8	OMIM:612702
2253	FGF8	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
2253	FGF8	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
2253	FGF8	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93926
2253	FGF8	HP:0001371	Flexion contracture	HP:0040284	ORPHA:93924
2253	FGF8	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93925
2253	FGF8	HP:0001371	Flexion contracture	HP:0040283	ORPHA:220386
2253	FGF8	HP:0000054	Micropenis	1/1	OMIM:146110
2253	FGF8	HP:0000054	Micropenis	HP:0040281	ORPHA:478
2253	FGF8	HP:0000054	Micropenis	HP:0040281	ORPHA:432
2253	FGF8	HP:0000054	Micropenis	2/3	OMIM:612702
2253	FGF8	HP:0001382	Joint hypermobility	-	OMIM:615777
2253	FGF8	HP:0001355	Megalencephaly	HP:0040283	ORPHA:280195
2253	FGF8	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2253	FGF8	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:280200
2253	FGF8	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:432
2253	FGF8	HP:0000028	Cryptorchidism	-	OMIM:146110
2253	FGF8	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
2253	FGF8	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:432
2253	FGF8	HP:0000028	Cryptorchidism	1/3	OMIM:612702
2253	FGF8	HP:0000027	Azoospermia	HP:0040281	ORPHA:432
2253	FGF8	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2253	FGF8	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:432
2253	FGF8	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93926
2253	FGF8	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93924
2253	FGF8	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93925
2253	FGF8	HP:0001328	Specific learning disability	HP:0040282	ORPHA:280195
2253	FGF8	HP:0001328	Specific learning disability	HP:0040282	ORPHA:220386
2253	FGF8	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2253	FGF8	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
2253	FGF8	HP:0001324	Muscle weakness	40/96	OMIM:131300
2253	FGF8	HP:0000013	Hypoplasia of the uterus	HP:0040282	ORPHA:432
2253	FGF8	HP:0001344	Absent speech	HP:0040282	ORPHA:93926
2253	FGF8	HP:0001344	Absent speech	HP:0040284	ORPHA:93924
2253	FGF8	HP:0001344	Absent speech	HP:0040282	ORPHA:93925
2253	FGF8	HP:0001344	Absent speech	HP:0040282	ORPHA:220386
2253	FGF8	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2253	FGF8	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
2253	FGF8	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
2253	FGF8	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2253	FGF8	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
2253	FGF8	HP:0001337	Tremor	HP:0040283	ORPHA:478
2253	FGF8	HP:0000006	Autosomal dominant inheritance	-	OMIM:612702
2253	FGF8	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2253	FGF8	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
2253	FGF8	HP:0002650	Scoliosis	HP:0040283	ORPHA:93926
2253	FGF8	HP:0002650	Scoliosis	HP:0040283	ORPHA:93924
2253	FGF8	HP:0002650	Scoliosis	HP:0040283	ORPHA:93925
2253	FGF8	HP:0002650	Scoliosis	HP:0040283	ORPHA:220386
2253	FGF8	HP:0002650	Scoliosis	HP:0040283	ORPHA:280200
2253	FGF8	HP:0002650	Scoliosis	12/14	OMIM:131300
2253	FGF8	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2253	FGF8	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2253	FGF8	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2253	FGF8	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2253	FGF8	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93926
2253	FGF8	HP:0000193	Bifid uvula	HP:0040283	ORPHA:93924
2253	FGF8	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93925
2253	FGF8	HP:0000193	Bifid uvula	HP:0040282	ORPHA:220386
2253	FGF8	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:432
2253	FGF8	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:220386
2253	FGF8	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93926
2253	FGF8	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93924
2253	FGF8	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93925
2253	FGF8	HP:0000175	Cleft palate	HP:0040283	ORPHA:280200
2253	FGF8	HP:0000175	Cleft palate	HP:0040282	ORPHA:93926
2253	FGF8	HP:0000175	Cleft palate	HP:0040282	ORPHA:93924
2253	FGF8	HP:0000175	Cleft palate	HP:0040282	ORPHA:93925
2253	FGF8	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
2253	FGF8	HP:0000175	Cleft palate	HP:0040283	ORPHA:432
2253	FGF8	HP:0000175	Cleft palate	2/7	OMIM:615777
2253	FGF8	HP:0000175	Cleft palate	HP:0040282	ORPHA:220386
2253	FGF8	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
2253	FGF8	HP:0410030	Cleft lip	1/8	OMIM:612702
2253	FGF8	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:280200
2253	FGF8	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:220386
2253	FGF8	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93926
2253	FGF8	HP:0006315	Solitary median maxillary central incisor	HP:0040284	ORPHA:93924
2253	FGF8	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93925
2253	FGF8	HP:0008947	Floppy infant	HP:0040282	ORPHA:93926
2253	FGF8	HP:0008947	Floppy infant	HP:0040283	ORPHA:93924
2253	FGF8	HP:0008947	Floppy infant	HP:0040282	ORPHA:93925
2253	FGF8	HP:0008947	Floppy infant	HP:0040282	ORPHA:220386
2253	FGF8	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93926
2253	FGF8	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93924
2253	FGF8	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93925
2253	FGF8	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:220386
2253	FGF8	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:280195
2253	FGF8	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:432
2253	FGF8	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:220386
2253	FGF8	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93926
2253	FGF8	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93924
2253	FGF8	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93925
2253	FGF8	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:432
2253	FGF8	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:220386
2253	FGF8	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93926
2253	FGF8	HP:0002793	Abnormal pattern of respiration	HP:0040283	ORPHA:93924
2253	FGF8	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93925
2253	FGF8	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:432
2253	FGF8	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
2253	FGF8	HP:0000104	Renal agenesis	HP:0040283	ORPHA:280200
2253	FGF8	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
2253	FGF8	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
2253	FGF8	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:432
2253	FGF8	HP:0002750	Delayed skeletal maturation	-	OMIM:612702
2253	FGF8	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93926
2253	FGF8	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93924
2253	FGF8	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93925
2253	FGF8	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220386
2253	FGF8	HP:0002019	Constipation	HP:0040282	ORPHA:93926
2253	FGF8	HP:0002019	Constipation	HP:0040282	ORPHA:93924
2253	FGF8	HP:0002019	Constipation	HP:0040282	ORPHA:93925
2253	FGF8	HP:0002019	Constipation	HP:0040282	ORPHA:220386
2253	FGF8	HP:0002033	Poor suck	HP:0040281	ORPHA:93926
2253	FGF8	HP:0002033	Poor suck	HP:0040282	ORPHA:93924
2253	FGF8	HP:0002033	Poor suck	HP:0040281	ORPHA:93925
2253	FGF8	HP:0002033	Poor suck	HP:0040281	ORPHA:220386
2253	FGF8	HP:0002015	Dysphagia	HP:0040282	ORPHA:93926
2253	FGF8	HP:0002015	Dysphagia	HP:0040283	ORPHA:93924
2253	FGF8	HP:0002015	Dysphagia	HP:0040282	ORPHA:93925
2253	FGF8	HP:0002015	Dysphagia	HP:0040283	ORPHA:280195
2253	FGF8	HP:0002015	Dysphagia	HP:0040282	ORPHA:220386
2253	FGF8	HP:0002013	Vomiting	HP:0040282	ORPHA:93926
2253	FGF8	HP:0002013	Vomiting	HP:0040283	ORPHA:93924
2253	FGF8	HP:0002013	Vomiting	HP:0040282	ORPHA:93925
2253	FGF8	HP:0002013	Vomiting	HP:0040282	ORPHA:220386
2253	FGF8	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:220386
2253	FGF8	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93926
2253	FGF8	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040283	ORPHA:93924
2253	FGF8	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93925
2253	FGF8	HP:0005968	Temperature instability	HP:0040282	ORPHA:220386
2253	FGF8	HP:0005968	Temperature instability	HP:0040282	ORPHA:93926
2253	FGF8	HP:0005968	Temperature instability	HP:0040283	ORPHA:93924
2253	FGF8	HP:0005968	Temperature instability	HP:0040282	ORPHA:93925
2253	FGF8	HP:0002099	Asthma	HP:0040283	ORPHA:280200
2253	FGF8	HP:0003388	Easy fatigability	36/76	OMIM:131300
2253	FGF8	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2253	FGF8	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:432
2253	FGF8	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:432
2253	FGF8	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:220386
2253	FGF8	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93926
2253	FGF8	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93924
2253	FGF8	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93925
2253	FGF8	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280195
2253	FGF8	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:280200
2253	FGF8	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
2253	FGF8	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:220386
2253	FGF8	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93926
2253	FGF8	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93924
2253	FGF8	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93925
2253	FGF8	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93926
2253	FGF8	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:93924
2253	FGF8	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93925
2253	FGF8	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:220386
2253	FGF8	HP:0100710	Impulsivity	HP:0040282	ORPHA:280195
2253	FGF8	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:280200
2253	FGF8	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
2253	FGF8	HP:0002231	Sparse body hair	HP:0040281	ORPHA:432
2253	FGF8	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
2253	FGF8	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:220386
2253	FGF8	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93926
2253	FGF8	HP:0010654	Aplasia of the falx cerebri	HP:0040283	ORPHA:93924
2253	FGF8	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93925
2253	FGF8	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93926
2253	FGF8	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93924
2253	FGF8	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93925
2253	FGF8	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:220386
2253	FGF8	HP:0010644	Midnasal stenosis	HP:0040281	ORPHA:280200
2253	FGF8	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93926
2253	FGF8	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93924
2253	FGF8	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93925
2253	FGF8	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:220386
2253	FGF8	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:432
2253	FGF8	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:220386
2253	FGF8	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93926
2253	FGF8	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93924
2253	FGF8	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93925
2253	FGF8	HP:0003510	Severe short stature	7/7	OMIM:615777
2253	FGF8	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:220386
2253	FGF8	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93926
2253	FGF8	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:93924
2253	FGF8	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93925
2253	FGF8	HP:0001028	Hemangioma	HP:0040283	ORPHA:280200
2253	FGF8	HP:0002315	Headache	-	OMIM:131300
2253	FGF8	HP:0004976	Knee dislocation	6/7	OMIM:615777
2253	FGF8	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:432
2253	FGF8	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:280200
2253	FGF8	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
2253	FGF8	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:280200
2253	FGF8	HP:0009803	Short phalanx of finger	-	OMIM:615777
2253	FGF8	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
2253	FGF8	HP:0009763	Limb pain	63/92	OMIM:131300
2253	FGF8	HP:0003621	Juvenile onset	2/2	OMIM:146110
2253	FGF8	HP:0003621	Juvenile onset	-	OMIM:131300
2253	FGF8	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2253	FGF8	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:220386
2253	FGF8	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93926
2253	FGF8	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93924
2253	FGF8	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93925
2253	FGF8	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2253	FGF8	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
2253	FGF8	HP:6001056	Out-toeing	-	OMIM:131300
2253	FGF8	HP:0000651	Diplopia	-	OMIM:131300
2253	FGF8	HP:0000612	Iris coloboma	HP:0040283	ORPHA:280200
2253	FGF8	HP:0001956	Truncal obesity	2/7	OMIM:615777
2253	FGF8	HP:0000601	Hypotelorism	HP:0040282	ORPHA:280200
2253	FGF8	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93926
2253	FGF8	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93924
2253	FGF8	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93925
2253	FGF8	HP:0000601	Hypotelorism	HP:0040281	ORPHA:220386
2253	FGF8	HP:0001903	Anemia	HP:0040283	OMIM:131300
2253	FGF8	HP:0010049	Short metacarpal	-	OMIM:615777
2253	FGF8	HP:0000678	Dental crowding	-	OMIM:615777
2253	FGF8	HP:0012650	Perisylvian polymicrogyria	HP:0040283	ORPHA:280195
2253	FGF8	HP:0000670	Carious teeth	-	OMIM:131300
2253	FGF8	HP:0011304	Broad thumb	2/7	OMIM:615777
2253	FGF8	HP:0000668	Hypodontia	-	OMIM:615777
2253	FGF8	HP:0000664	Synophrys	-	OMIM:615777
2253	FGF8	HP:0004322	Short stature	HP:0040281	ORPHA:220386
2253	FGF8	HP:0004322	Short stature	HP:0040282	ORPHA:280200
2253	FGF8	HP:0004322	Short stature	HP:0040281	ORPHA:93926
2253	FGF8	HP:0004322	Short stature	HP:0040282	ORPHA:93924
2253	FGF8	HP:0004322	Short stature	HP:0040281	ORPHA:93925
2253	FGF8	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:220386
2253	FGF8	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93926
2253	FGF8	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93924
2253	FGF8	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93925
2253	FGF8	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:280200
2253	FGF8	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
2253	FGF8	HP:0000802	Impotence	HP:0040281	ORPHA:432
2253	FGF8	HP:0004396	Poor appetite	-	OMIM:131300
2253	FGF8	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2253	FGF8	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2253	FGF8	HP:0031913	Rhombencephalosynapsis	HP:0040283	ORPHA:280195
2253	FGF8	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2253	FGF8	HP:0003026	Short long bone	7/7	OMIM:615777
2253	FGF8	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2253	FGF8	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
2253	FGF8	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:280195
2253	FGF8	HP:0000771	Gynecomastia	HP:0040282	ORPHA:432
2253	FGF8	HP:0000771	Gynecomastia	0/1	OMIM:146110
2253	FGF8	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
2253	FGF8	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2253	FGF8	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2253	FGF8	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2253	FGF8	HP:0000737	Irritability	HP:0040282	ORPHA:93926
2253	FGF8	HP:0000737	Irritability	HP:0040282	ORPHA:93924
2253	FGF8	HP:0000737	Irritability	HP:0040282	ORPHA:93925
2253	FGF8	HP:0000737	Irritability	HP:0040282	ORPHA:220386
2253	FGF8	HP:0000739	Anxiety	HP:0040282	ORPHA:93926
2253	FGF8	HP:0000739	Anxiety	HP:0040282	ORPHA:93924
2253	FGF8	HP:0000739	Anxiety	HP:0040282	ORPHA:93925
2253	FGF8	HP:0000739	Anxiety	HP:0040282	ORPHA:432
2253	FGF8	HP:0000739	Anxiety	HP:0040282	ORPHA:220386
2253	FGF8	HP:0000736	Short attention span	HP:0040282	ORPHA:280195
2253	FGF8	HP:0000750	Delayed speech and language development	-	OMIM:615777
2253	FGF8	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:220386
2253	FGF8	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93926
2253	FGF8	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93924
2253	FGF8	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93925
2253	FGF8	HP:0000741	Apathy	HP:0040282	ORPHA:220386
2253	FGF8	HP:0000741	Apathy	HP:0040282	ORPHA:93926
2253	FGF8	HP:0000741	Apathy	HP:0040283	ORPHA:93924
2253	FGF8	HP:0000741	Apathy	HP:0040282	ORPHA:93925
2253	FGF8	HP:0000716	Depression	HP:0040282	ORPHA:93926
2253	FGF8	HP:0000716	Depression	HP:0040282	ORPHA:93924
2253	FGF8	HP:0000716	Depression	HP:0040282	ORPHA:93925
2253	FGF8	HP:0000716	Depression	HP:0040282	ORPHA:432
2253	FGF8	HP:0000716	Depression	HP:0040282	ORPHA:220386
2253	FGF8	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93926
2253	FGF8	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93924
2253	FGF8	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93925
2253	FGF8	HP:0000708	Atypical behavior	HP:0040282	ORPHA:220386
2253	FGF8	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:280195
2253	FGF8	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:220386
2253	FGF8	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93926
2253	FGF8	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93924
2253	FGF8	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93925
2253	FGF8	HP:0011461	Fetal onset	7/7	OMIM:615777
2253	FGF8	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:220386
2253	FGF8	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93926
2253	FGF8	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93924
2253	FGF8	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93925
2253	FGF8	HP:0000774	Narrow chest	2/7	OMIM:615777
2253	FGF8	HP:0000789	Infertility	HP:0040283	OMIM:146110
2253	FGF8	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:432
2253	FGF8	HP:0000786	Primary amenorrhea	2/5	OMIM:612702
2253	FGF8	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
2253	FGF8	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
2253	FGF8	HP:0004409	Hyposmia	1/8	OMIM:612702
2253	FGF8	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
2253	FGF8	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
2253	FGF8	HP:0003196	Short nose	HP:0040283	ORPHA:280200
2253	FGF8	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93926
2253	FGF8	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93924
2253	FGF8	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93925
2253	FGF8	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:220386
2253	FGF8	HP:0000926	Platyspondyly	1/7	OMIM:615777
2253	FGF8	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:432
2253	FGF8	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
2253	FGF8	HP:0003180	Flat acetabular roof	-	OMIM:615777
2253	FGF8	HP:0004482	Relative macrocephaly	-	OMIM:615777
2253	FGF8	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
2253	FGF8	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2253	FGF8	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:220386
2253	FGF8	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93926
2253	FGF8	HP:0000873	Diabetes insipidus	HP:0040282	ORPHA:93924
2253	FGF8	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93925
2253	FGF8	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:280200
2253	FGF8	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:220386
2253	FGF8	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93926
2253	FGF8	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93924
2253	FGF8	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93925
2253	FGF8	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:432
2253	FGF8	HP:0000863	Central diabetes insipidus	HP:0040282	ORPHA:280195
2253	FGF8	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:280195
2253	FGF8	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
2253	FGF8	HP:0012806	Proboscis	HP:0040283	ORPHA:220386
2253	FGF8	HP:0012806	Proboscis	HP:0040283	ORPHA:93926
2253	FGF8	HP:0012806	Proboscis	HP:0040284	ORPHA:93924
2253	FGF8	HP:0012806	Proboscis	HP:0040283	ORPHA:93925
2253	FGF8	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:220386
2253	FGF8	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93926
2253	FGF8	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:93924
2253	FGF8	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93925
2253	FGF8	HP:0000826	Precocious puberty	HP:0040282	ORPHA:280195
2253	FGF8	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:280200
2253	FGF8	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93926
2253	FGF8	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93924
2253	FGF8	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93925
2253	FGF8	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:220386
2253	FGF8	HP:0000823	Delayed puberty	HP:0040282	ORPHA:432
2253	FGF8	HP:0000823	Delayed puberty	-	OMIM:131300
2253	FGF8	HP:0000823	Delayed puberty	2/8	OMIM:612702
2253	FGF8	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
2253	FGF8	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:220386
2253	FGF8	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93926
2253	FGF8	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93924
2253	FGF8	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93925
2253	FGF8	HP:0000894	Short clavicles	-	OMIM:615777
2253	FGF8	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2253	FGF8	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2253	FGF8	HP:0000939	Osteoporosis	HP:0040282	ORPHA:432
2253	FGF8	HP:0045005	Neural tube defect	HP:0040282	ORPHA:220386
2253	FGF8	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93926
2253	FGF8	HP:0045005	Neural tube defect	HP:0040284	ORPHA:93924
2253	FGF8	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93925
2253	FGF8	HP:0000938	Osteopenia	HP:0040282	ORPHA:432
2253	FGF8	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:432
2253	FGF8	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
2253	FGF8	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:220386
2253	FGF8	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93926
2253	FGF8	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93924
2253	FGF8	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93925
2253	FGF8	HP:0000286	Epicanthus	1/7	OMIM:615777
2253	FGF8	HP:0000280	Coarse facial features	2/7	OMIM:615777
2253	FGF8	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93926
2253	FGF8	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93924
2253	FGF8	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93925
2253	FGF8	HP:0000256	Macrocephaly	HP:0040283	ORPHA:220386
2253	FGF8	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93926
2253	FGF8	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93924
2253	FGF8	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93925
2253	FGF8	HP:0002827	Hip dislocation	3/7	OMIM:615777
2253	FGF8	HP:0002827	Hip dislocation	HP:0040283	ORPHA:220386
2253	FGF8	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93926
2253	FGF8	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93924
2253	FGF8	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93925
2253	FGF8	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220386
2253	FGF8	HP:0000252	Microcephaly	HP:0040283	ORPHA:280195
2253	FGF8	HP:0000252	Microcephaly	HP:0040282	ORPHA:220386
2253	FGF8	HP:0000252	Microcephaly	HP:0040282	ORPHA:280200
2253	FGF8	HP:0000252	Microcephaly	HP:0040282	ORPHA:93926
2253	FGF8	HP:0000252	Microcephaly	HP:0040283	ORPHA:93924
2253	FGF8	HP:0000252	Microcephaly	HP:0040282	ORPHA:93925
2253	FGF8	HP:0000252	Microcephaly	-	OMIM:615777
2253	FGF8	HP:0000218	High palate	HP:0040282	ORPHA:93926
2253	FGF8	HP:0000218	High palate	HP:0040282	ORPHA:93924
2253	FGF8	HP:0000218	High palate	HP:0040282	ORPHA:93925
2253	FGF8	HP:0000218	High palate	HP:0040282	ORPHA:220386
2253	FGF8	HP:0000218	High palate	-	OMIM:612702
2253	FGF8	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:280195
2253	FGF8	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
2253	FGF8	HP:0030019	Increased female libido	HP:0040281	ORPHA:432
2253	FGF8	HP:0002857	Genu valgum	-	OMIM:131300
2253	FGF8	HP:0002871	Central apnea	HP:0040282	ORPHA:220386
2253	FGF8	HP:0002871	Central apnea	HP:0040282	ORPHA:93926
2253	FGF8	HP:0002871	Central apnea	HP:0040283	ORPHA:93924
2253	FGF8	HP:0002871	Central apnea	HP:0040282	ORPHA:93925
2253	FGF8	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:280200
2253	FGF8	HP:0001533	Slender build	-	OMIM:131300
2253	FGF8	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93926
2253	FGF8	HP:0001508	Failure to thrive	HP:0040282	ORPHA:93924
2253	FGF8	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93925
2253	FGF8	HP:0001508	Failure to thrive	HP:0040281	ORPHA:220386
2253	FGF8	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:280200
2253	FGF8	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2253	FGF8	HP:0001510	Growth delay	HP:0040281	ORPHA:93926
2253	FGF8	HP:0001510	Growth delay	HP:0040282	ORPHA:93924
2253	FGF8	HP:0001510	Growth delay	HP:0040281	ORPHA:93925
2253	FGF8	HP:0001510	Growth delay	HP:0040281	ORPHA:220386
2253	FGF8	HP:0001513	Obesity	HP:0040283	ORPHA:478
2253	FGF8	HP:0007807	Optic nerve compression	-	OMIM:131300
2253	FGF8	HP:0012385	Camptodactyly	HP:0040283	ORPHA:432
2253	FGF8	HP:0012368	Flat face	7/7	OMIM:615777
2253	FGF8	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:220386
2253	FGF8	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93926
2253	FGF8	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93924
2253	FGF8	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93925
2253	FGF8	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:432
2253	FGF8	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
2253	FGF8	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2253	FGF8	HP:0000365	Hearing impairment	10/67	OMIM:131300
2253	FGF8	HP:0000343	Long philtrum	1/7	OMIM:615777
2253	FGF8	HP:0011001	Increased bone mineral density	-	OMIM:131300
2253	FGF8	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:280195
2253	FGF8	HP:0000316	Hypertelorism	HP:0040283	ORPHA:432
2253	FGF8	HP:0000311	Round face	2/7	OMIM:615777
2253	FGF8	HP:0000322	Short philtrum	HP:0040282	ORPHA:280200
2253	FGF8	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93926
2253	FGF8	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93924
2253	FGF8	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93925
2253	FGF8	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:220386
2253	FGF8	HP:0001622	Premature birth	HP:0040282	ORPHA:280200
2253	FGF8	HP:0002970	Genu varum	-	OMIM:615777
2253	FGF8	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:280200
2253	FGF8	HP:0000303	Mandibular prognathia	-	OMIM:131300
2253	FGF8	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:432
2253	FGF8	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93926
2253	FGF8	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93924
2253	FGF8	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93925
2253	FGF8	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:220386
2253	FGF8	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
2253	FGF8	HP:0000407	Sensorineural hearing impairment	2/8	OMIM:612702
2253	FGF8	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:432
2253	FGF8	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2253	FGF8	HP:0000486	Strabismus	HP:0040283	ORPHA:280200
2253	FGF8	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93926
2253	FGF8	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:93924
2253	FGF8	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93925
2253	FGF8	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:220386
2253	FGF8	HP:0000463	Anteverted nares	HP:0040283	ORPHA:280200
2253	FGF8	HP:0000458	Anosmia	1/8	OMIM:612702
2253	FGF8	HP:0000458	Anosmia	HP:0040281	ORPHA:478
2253	FGF8	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93926
2253	FGF8	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93924
2253	FGF8	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93925
2253	FGF8	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:220386
2253	FGF8	HP:0000470	Short neck	1/7	OMIM:615777
2253	FGF8	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2253	FGF8	HP:0001763	Pes planus	HP:0040283	ORPHA:478
2253	FGF8	HP:0001763	Pes planus	1/7	OMIM:615777
2253	FGF8	HP:0000453	Choanal atresia	HP:0040281	ORPHA:280200
2253	FGF8	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:280200
2253	FGF8	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
2253	FGF8	HP:0012506	Small pituitary gland	-	OMIM:612702
2253	FGF8	HP:0001840	Metatarsus adductus	-	OMIM:615777
2253	FGF8	HP:0000520	Proptosis	2/4	OMIM:131300
2253	FGF8	HP:0000520	Proptosis	7/7	OMIM:615777
2253	FGF8	HP:0000508	Ptosis	HP:0040283	ORPHA:478
2253	FGF8	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
2253	FGF8	HP:0000592	Blue sclerae	2/7	OMIM:615777
2253	FGF8	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2253	FGF8	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
2253	FGF8	HP:0012514	Lower limb pain	4/4	OMIM:131300
2254	FGF9	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3237
2254	FGF9	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2254	FGF9	HP:0001293	Cranial nerve compression	-	OMIM:131300
2254	FGF9	HP:0001252	Hypotonia	2/7	OMIM:615777
2254	FGF9	HP:0001249	Intellectual disability	5/7	OMIM:615777
2254	FGF9	HP:0001263	Global developmental delay	-	OMIM:615777
2254	FGF9	HP:0006064	Limited interphalangeal movement	-	OMIM:612961
2254	FGF9	HP:0002515	Waddling gait	54/102	OMIM:131300
2254	FGF9	HP:0001387	Joint stiffness	HP:0040281	ORPHA:3237
2254	FGF9	HP:0001382	Joint hypermobility	-	OMIM:615777
2254	FGF9	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2254	FGF9	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2254	FGF9	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2254	FGF9	HP:0001324	Muscle weakness	40/96	OMIM:131300
2254	FGF9	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2254	FGF9	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2254	FGF9	HP:0000006	Autosomal dominant inheritance	-	OMIM:612961
2254	FGF9	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2254	FGF9	HP:0002650	Scoliosis	12/14	OMIM:131300
2254	FGF9	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2254	FGF9	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2254	FGF9	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2254	FGF9	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2254	FGF9	HP:0000175	Cleft palate	-	OMIM:612961
2254	FGF9	HP:0000175	Cleft palate	2/7	OMIM:615777
2254	FGF9	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:3237
2254	FGF9	HP:0001440	Metatarsal synostosis	-	OMIM:612961
2254	FGF9	HP:0003388	Easy fatigability	36/76	OMIM:131300
2254	FGF9	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2254	FGF9	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:3237
2254	FGF9	HP:0009701	Metacarpal synostosis	-	OMIM:612961
2254	FGF9	HP:0010621	Cutaneous syndactyly of toes	HP:0040284	OMIM:612961
2254	FGF9	HP:0003510	Severe short stature	7/7	OMIM:615777
2254	FGF9	HP:0002315	Headache	-	OMIM:131300
2254	FGF9	HP:0004976	Knee dislocation	6/7	OMIM:615777
2254	FGF9	HP:0009803	Short phalanx of finger	-	OMIM:615777
2254	FGF9	HP:0009773	Symphalangism affecting the phalanges of the hand	HP:0040281	ORPHA:3237
2254	FGF9	HP:0009763	Limb pain	63/92	OMIM:131300
2254	FGF9	HP:0003621	Juvenile onset	-	OMIM:131300
2254	FGF9	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2254	FGF9	HP:0004279	Short palm	HP:0040281	ORPHA:3237
2254	FGF9	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2254	FGF9	HP:6001056	Out-toeing	-	OMIM:131300
2254	FGF9	HP:0000651	Diplopia	-	OMIM:131300
2254	FGF9	HP:0001956	Truncal obesity	2/7	OMIM:615777
2254	FGF9	HP:0001903	Anemia	HP:0040283	OMIM:131300
2254	FGF9	HP:0010049	Short metacarpal	-	OMIM:615777
2254	FGF9	HP:0010055	Broad hallux	HP:0040284	OMIM:612961
2254	FGF9	HP:0000678	Dental crowding	-	OMIM:615777
2254	FGF9	HP:0000670	Carious teeth	-	OMIM:131300
2254	FGF9	HP:0011304	Broad thumb	2/7	OMIM:615777
2254	FGF9	HP:0011304	Broad thumb	HP:0040282	ORPHA:3237
2254	FGF9	HP:0011304	Broad thumb	HP:0040284	OMIM:612961
2254	FGF9	HP:0000668	Hypodontia	-	OMIM:615777
2254	FGF9	HP:0000664	Synophrys	-	OMIM:615777
2254	FGF9	HP:0004396	Poor appetite	-	OMIM:131300
2254	FGF9	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2254	FGF9	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2254	FGF9	HP:0003041	Humeroradial synostosis	-	OMIM:612961
2254	FGF9	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2254	FGF9	HP:0003026	Short long bone	7/7	OMIM:615777
2254	FGF9	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2254	FGF9	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2254	FGF9	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2254	FGF9	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2254	FGF9	HP:0000750	Delayed speech and language development	-	OMIM:615777
2254	FGF9	HP:0011461	Fetal onset	7/7	OMIM:615777
2254	FGF9	HP:0000774	Narrow chest	2/7	OMIM:615777
2254	FGF9	HP:0000926	Platyspondyly	1/7	OMIM:615777
2254	FGF9	HP:0003180	Flat acetabular roof	-	OMIM:615777
2254	FGF9	HP:0004482	Relative macrocephaly	-	OMIM:615777
2254	FGF9	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2254	FGF9	HP:0000823	Delayed puberty	-	OMIM:131300
2254	FGF9	HP:0000894	Short clavicles	-	OMIM:615777
2254	FGF9	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2254	FGF9	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2254	FGF9	HP:0008080	Hallux varus	HP:0040284	OMIM:612961
2254	FGF9	HP:0000286	Epicanthus	1/7	OMIM:615777
2254	FGF9	HP:0000280	Coarse facial features	2/7	OMIM:615777
2254	FGF9	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:3237
2254	FGF9	HP:0000268	Dolichocephaly	HP:0040284	OMIM:612961
2254	FGF9	HP:0002827	Hip dislocation	3/7	OMIM:615777
2254	FGF9	HP:0000252	Microcephaly	-	OMIM:615777
2254	FGF9	HP:0002857	Genu valgum	-	OMIM:131300
2254	FGF9	HP:0001533	Slender build	-	OMIM:131300
2254	FGF9	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2254	FGF9	HP:0007807	Optic nerve compression	-	OMIM:131300
2254	FGF9	HP:0012368	Flat face	7/7	OMIM:615777
2254	FGF9	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2254	FGF9	HP:0000365	Hearing impairment	10/67	OMIM:131300
2254	FGF9	HP:0000343	Long philtrum	1/7	OMIM:615777
2254	FGF9	HP:0011001	Increased bone mineral density	-	OMIM:131300
2254	FGF9	HP:0000311	Round face	2/7	OMIM:615777
2254	FGF9	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:3237
2254	FGF9	HP:0002970	Genu varum	-	OMIM:615777
2254	FGF9	HP:0002967	Cubitus valgus	-	OMIM:612961
2254	FGF9	HP:0000303	Mandibular prognathia	-	OMIM:131300
2254	FGF9	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:3237
2254	FGF9	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2254	FGF9	HP:0000470	Short neck	1/7	OMIM:615777
2254	FGF9	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2254	FGF9	HP:0001763	Pes planus	1/7	OMIM:615777
2254	FGF9	HP:0001840	Metatarsus adductus	-	OMIM:615777
2254	FGF9	HP:0000520	Proptosis	2/4	OMIM:131300
2254	FGF9	HP:0000520	Proptosis	7/7	OMIM:615777
2254	FGF9	HP:0000520	Proptosis	HP:0040284	OMIM:612961
2254	FGF9	HP:0000592	Blue sclerae	2/7	OMIM:615777
2254	FGF9	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2254	FGF9	HP:0012514	Lower limb pain	4/4	OMIM:131300
2255	FGF10	HP:0001172	Abnormal thumb morphology	HP:0040283	ORPHA:2363
2255	FGF10	HP:0001159	Syndactyly	HP:0040283	ORPHA:2363
2255	FGF10	HP:0009942	Duplication of thumb phalanx	HP:0040283	ORPHA:2363
2255	FGF10	HP:0009944	Partial duplication of thumb phalanx	4/4	OMIM:620193
2255	FGF10	HP:0009926	Epiphora	HP:0040282	ORPHA:2363
2255	FGF10	HP:0008551	Microtia	1/2	OMIM:620193
2255	FGF10	HP:0008551	Microtia	HP:0040284	ORPHA:2363
2255	FGF10	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2255	FGF10	HP:0001293	Cranial nerve compression	-	OMIM:131300
2255	FGF10	HP:0001250	Seizure	HP:0040284	ORPHA:2363
2255	FGF10	HP:0001252	Hypotonia	2/7	OMIM:615777
2255	FGF10	HP:0001249	Intellectual disability	5/7	OMIM:615777
2255	FGF10	HP:0001263	Global developmental delay	HP:0040284	ORPHA:2363
2255	FGF10	HP:0001263	Global developmental delay	-	OMIM:615777
2255	FGF10	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:2363
2255	FGF10	HP:0002515	Waddling gait	54/102	OMIM:131300
2255	FGF10	HP:0000089	Renal hypoplasia	HP:0040284	ORPHA:2363
2255	FGF10	HP:0000076	Vesicoureteral reflux	HP:0040284	ORPHA:2363
2255	FGF10	HP:0001369	Arthritis	HP:0040284	ORPHA:2363
2255	FGF10	HP:0001382	Joint hypermobility	-	OMIM:615777
2255	FGF10	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2255	FGF10	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:2363
2255	FGF10	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2255	FGF10	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2255	FGF10	HP:0001324	Muscle weakness	40/96	OMIM:131300
2255	FGF10	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2255	FGF10	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2255	FGF10	HP:0000006	Autosomal dominant inheritance	-	OMIM:180920
2255	FGF10	HP:0000006	Autosomal dominant inheritance	-	OMIM:620193
2255	FGF10	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2255	FGF10	HP:0002650	Scoliosis	HP:0040284	ORPHA:2363
2255	FGF10	HP:0002650	Scoliosis	12/14	OMIM:131300
2255	FGF10	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2255	FGF10	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2255	FGF10	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2255	FGF10	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2255	FGF10	HP:0000193	Bifid uvula	HP:0040284	ORPHA:2363
2255	FGF10	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:2363
2255	FGF10	HP:0012155	Decreased corneal sensation	HP:0040283	ORPHA:2363
2255	FGF10	HP:0000175	Cleft palate	2/7	OMIM:615777
2255	FGF10	HP:0007656	Lacrimal gland aplasia	HP:0040283	ORPHA:2363
2255	FGF10	HP:0007656	Lacrimal gland aplasia	-	OMIM:180920
2255	FGF10	HP:0006297	Enamel hypoplasia	1/2	OMIM:620193
2255	FGF10	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:2363
2255	FGF10	HP:0012108	Open angle glaucoma	HP:0040284	ORPHA:2363
2255	FGF10	HP:0000126	Hydronephrosis	HP:0040284	ORPHA:2363
2255	FGF10	HP:0002015	Dysphagia	HP:0040284	ORPHA:2363
2255	FGF10	HP:0003388	Easy fatigability	36/76	OMIM:131300
2255	FGF10	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2255	FGF10	HP:0002164	Nail dysplasia	HP:0040284	ORPHA:2363
2255	FGF10	HP:0003577	Congenital onset	6/6	OMIM:620193
2255	FGF10	HP:0011968	Feeding difficulties	1/2	OMIM:620193
2255	FGF10	HP:0003510	Severe short stature	7/7	OMIM:615777
2255	FGF10	HP:0002315	Headache	-	OMIM:131300
2255	FGF10	HP:0004976	Knee dislocation	6/7	OMIM:615777
2255	FGF10	HP:0001096	Keratoconjunctivitis	HP:0040283	ORPHA:2363
2255	FGF10	HP:0001097	Keratoconjunctivitis sicca	HP:0040282	ORPHA:2363
2255	FGF10	HP:0001092	Absent lacrimal punctum	7/7	OMIM:620193
2255	FGF10	HP:0001092	Absent lacrimal punctum	HP:0040283	ORPHA:2363
2255	FGF10	HP:0001092	Absent lacrimal punctum	-	OMIM:180920
2255	FGF10	HP:0009803	Short phalanx of finger	-	OMIM:615777
2255	FGF10	HP:0009777	Absent thumb	HP:0040283	ORPHA:2363
2255	FGF10	HP:0009778	Short thumb	1/2	OMIM:620193
2255	FGF10	HP:0009778	Short thumb	HP:0040283	ORPHA:2363
2255	FGF10	HP:0009763	Limb pain	63/92	OMIM:131300
2255	FGF10	HP:0003621	Juvenile onset	-	OMIM:131300
2255	FGF10	HP:0032107	Limbal stem cell deficiency	HP:0040283	ORPHA:2363
2255	FGF10	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2255	FGF10	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2255	FGF10	HP:6001056	Out-toeing	-	OMIM:131300
2255	FGF10	HP:0000651	Diplopia	-	OMIM:131300
2255	FGF10	HP:0001956	Truncal obesity	2/7	OMIM:615777
2255	FGF10	HP:0001903	Anemia	HP:0040283	OMIM:131300
2255	FGF10	HP:0010049	Short metacarpal	-	OMIM:615777
2255	FGF10	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:2363
2255	FGF10	HP:0000678	Dental crowding	-	OMIM:615777
2255	FGF10	HP:0000691	Microdontia	HP:0040283	ORPHA:2363
2255	FGF10	HP:0000687	Widely spaced teeth	1/2	OMIM:620193
2255	FGF10	HP:0000670	Carious teeth	-	OMIM:180920
2255	FGF10	HP:0000670	Carious teeth	-	OMIM:131300
2255	FGF10	HP:0000670	Carious teeth	4/4	OMIM:620193
2255	FGF10	HP:0000670	Carious teeth	HP:0040282	ORPHA:2363
2255	FGF10	HP:0011304	Broad thumb	2/7	OMIM:615777
2255	FGF10	HP:0000668	Hypodontia	-	OMIM:615777
2255	FGF10	HP:0000668	Hypodontia	HP:0040283	ORPHA:2363
2255	FGF10	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:2363
2255	FGF10	HP:0000664	Synophrys	-	OMIM:615777
2255	FGF10	HP:0004396	Poor appetite	-	OMIM:131300
2255	FGF10	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2255	FGF10	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2255	FGF10	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2255	FGF10	HP:0003026	Short long bone	7/7	OMIM:615777
2255	FGF10	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2255	FGF10	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2255	FGF10	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2255	FGF10	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2255	FGF10	HP:0000750	Delayed speech and language development	-	OMIM:615777
2255	FGF10	HP:0011487	Increased corneal thickness	HP:0040284	ORPHA:2363
2255	FGF10	HP:0011496	Corneal neovascularization	HP:0040283	ORPHA:2363
2255	FGF10	HP:0011482	Abnormal lacrimal gland morphology	HP:0040282	ORPHA:2363
2255	FGF10	HP:0011481	Abnormal lacrimal duct morphology	HP:0040282	ORPHA:2363
2255	FGF10	HP:0011461	Fetal onset	7/7	OMIM:615777
2255	FGF10	HP:0000774	Narrow chest	2/7	OMIM:615777
2255	FGF10	HP:0000926	Platyspondyly	1/7	OMIM:615777
2255	FGF10	HP:0003180	Flat acetabular roof	-	OMIM:615777
2255	FGF10	HP:0004482	Relative macrocephaly	-	OMIM:615777
2255	FGF10	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2255	FGF10	HP:0012804	Corneal ulceration	HP:0040283	ORPHA:2363
2255	FGF10	HP:0000813	Bicornuate uterus	HP:0040284	ORPHA:2363
2255	FGF10	HP:0000823	Delayed puberty	-	OMIM:131300
2255	FGF10	HP:0010286	Abnormal salivary gland morphology	HP:0040282	ORPHA:2363
2255	FGF10	HP:0000894	Short clavicles	-	OMIM:615777
2255	FGF10	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2255	FGF10	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2255	FGF10	HP:0000286	Epicanthus	1/2	OMIM:620193
2255	FGF10	HP:0000286	Epicanthus	1/7	OMIM:615777
2255	FGF10	HP:0000280	Coarse facial features	2/7	OMIM:615777
2255	FGF10	HP:0007732	Lacrimal gland hypoplasia	-	OMIM:180920
2255	FGF10	HP:0002827	Hip dislocation	3/7	OMIM:615777
2255	FGF10	HP:0030084	Clinodactyly	HP:0040283	ORPHA:2363
2255	FGF10	HP:0000252	Microcephaly	-	OMIM:615777
2255	FGF10	HP:0000217	Xerostomia	-	OMIM:180920
2255	FGF10	HP:0000217	Xerostomia	1/2	OMIM:620193
2255	FGF10	HP:0000217	Xerostomia	HP:0040282	ORPHA:2363
2255	FGF10	HP:0002857	Genu valgum	-	OMIM:131300
2255	FGF10	HP:0000202	Orofacial cleft	HP:0040284	ORPHA:2363
2255	FGF10	HP:0001533	Slender build	-	OMIM:131300
2255	FGF10	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2255	FGF10	HP:0007807	Optic nerve compression	-	OMIM:131300
2255	FGF10	HP:0012368	Flat face	7/7	OMIM:615777
2255	FGF10	HP:0000378	Cupped ear	4/7	OMIM:620193
2255	FGF10	HP:0000378	Cupped ear	HP:0040283	ORPHA:2363
2255	FGF10	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:2363
2255	FGF10	HP:0007892	Hypoplasia of the lacrimal punctum	HP:0040283	ORPHA:2363
2255	FGF10	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2255	FGF10	HP:0000365	Hearing impairment	0/3	OMIM:620193
2255	FGF10	HP:0000365	Hearing impairment	10/67	OMIM:131300
2255	FGF10	HP:0000369	Low-set ears	HP:0040283	ORPHA:2363
2255	FGF10	HP:0000343	Long philtrum	1/7	OMIM:615777
2255	FGF10	HP:0011001	Increased bone mineral density	-	OMIM:131300
2255	FGF10	HP:0000347	Micrognathia	HP:0040284	ORPHA:2363
2255	FGF10	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:2363
2255	FGF10	HP:0000311	Round face	2/7	OMIM:615777
2255	FGF10	HP:0002984	Hypoplasia of the radius	HP:0040283	ORPHA:2363
2255	FGF10	HP:0002970	Genu varum	-	OMIM:615777
2255	FGF10	HP:0000303	Mandibular prognathia	-	OMIM:131300
2255	FGF10	HP:0007925	Lacrimal duct aplasia	8/9	OMIM:620193
2255	FGF10	HP:0007925	Lacrimal duct aplasia	HP:0040283	ORPHA:2363
2255	FGF10	HP:0005349	Hypoplasia of the epiglottis	HP:0040284	ORPHA:2363
2255	FGF10	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2363
2255	FGF10	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:2363
2255	FGF10	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2255	FGF10	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:2363
2255	FGF10	HP:0000495	Recurrent corneal erosions	HP:0040283	ORPHA:2363
2255	FGF10	HP:0000458	Anosmia	HP:0040284	ORPHA:2363
2255	FGF10	HP:0000470	Short neck	1/7	OMIM:615777
2255	FGF10	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:2363
2255	FGF10	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2255	FGF10	HP:0001763	Pes planus	1/7	OMIM:615777
2255	FGF10	HP:0000453	Choanal atresia	HP:0040284	ORPHA:2363
2255	FGF10	HP:0000410	Mixed hearing impairment	HP:0040283	ORPHA:2363
2255	FGF10	HP:0011297	Abnormal digit morphology	HP:0040282	ORPHA:2363
2255	FGF10	HP:0001840	Metatarsus adductus	-	OMIM:615777
2255	FGF10	HP:0000520	Proptosis	2/4	OMIM:131300
2255	FGF10	HP:0000520	Proptosis	7/7	OMIM:615777
2255	FGF10	HP:0000522	Alacrima	4/4	OMIM:620193
2255	FGF10	HP:0000508	Ptosis	HP:0040283	ORPHA:2363
2255	FGF10	HP:0000577	Exotropia	HP:0040284	ORPHA:2363
2255	FGF10	HP:0000592	Blue sclerae	2/7	OMIM:615777
2255	FGF10	HP:0000561	Absent eyelashes	1/2	OMIM:620193
2255	FGF10	HP:0000565	Esotropia	1/2	OMIM:620193
2255	FGF10	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2255	FGF10	HP:0012514	Lower limb pain	4/4	OMIM:131300
2257	FGF12	HP:0002465	Poor speech	-	OMIM:617166
2257	FGF12	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
2257	FGF12	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
2257	FGF12	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
2257	FGF12	HP:0001272	Cerebellar atrophy	2/2	OMIM:617166
2257	FGF12	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
2257	FGF12	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
2257	FGF12	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
2257	FGF12	HP:0001288	Gait disturbance	-	OMIM:617166
2257	FGF12	HP:0001250	Seizure	HP:0040282	ORPHA:442835
2257	FGF12	HP:0001252	Hypotonia	1/2	OMIM:617166
2257	FGF12	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
2257	FGF12	HP:0001251	Ataxia	1/2	OMIM:617166
2257	FGF12	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
2257	FGF12	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
2257	FGF12	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
2257	FGF12	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
2257	FGF12	HP:0007359	Focal-onset seizure	1/2	OMIM:617166
2257	FGF12	HP:0002540	Inability to walk	-	OMIM:617166
2257	FGF12	HP:0002521	Hypsarrhythmia	1/2	OMIM:617166
2257	FGF12	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
2257	FGF12	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
2257	FGF12	HP:0001344	Absent speech	1/2	OMIM:617166
2257	FGF12	HP:0001337	Tremor	HP:0040283	ORPHA:442835
2257	FGF12	HP:0000006	Autosomal dominant inheritance	-	OMIM:617166
2257	FGF12	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
2257	FGF12	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
2257	FGF12	HP:0008936	Axial hypotonia	1/2	OMIM:617166
2257	FGF12	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
2257	FGF12	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:617166
2257	FGF12	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
2257	FGF12	HP:0002070	Limb ataxia	2/2	OMIM:617166
2257	FGF12	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
2257	FGF12	HP:0002133	Status epilepticus	1/2	OMIM:617166
2257	FGF12	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
2257	FGF12	HP:0002187	Intellectual disability, profound	2/2	OMIM:617166
2257	FGF12	HP:0003593	Infantile onset	1/2	OMIM:617166
2257	FGF12	HP:0100704	Cerebral visual impairment	1/2	OMIM:617166
2257	FGF12	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
2257	FGF12	HP:0200134	Epileptic encephalopathy	2/2	OMIM:617166
2257	FGF12	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
2257	FGF12	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
2257	FGF12	HP:0011968	Feeding difficulties	2/2	OMIM:617166
2257	FGF12	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
2257	FGF12	HP:0002376	Developmental regression	1/1	OMIM:617166
2257	FGF12	HP:0002353	EEG abnormality	-	OMIM:617166
2257	FGF12	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
2257	FGF12	HP:0010841	Multifocal epileptiform discharges	2/2	OMIM:617166
2257	FGF12	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
2257	FGF12	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
2257	FGF12	HP:0003623	Neonatal onset	1/2	OMIM:617166
2257	FGF12	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
2257	FGF12	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
2257	FGF12	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
2257	FGF12	HP:0004322	Short stature	HP:0040283	ORPHA:442835
2257	FGF12	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
2257	FGF12	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
2257	FGF12	HP:0000717	Autism	HP:0040283	ORPHA:442835
2257	FGF12	HP:0000713	Agitation	1/2	OMIM:617166
2257	FGF12	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
2257	FGF12	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
2257	FGF12	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
2257	FGF12	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
2257	FGF12	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
2257	FGF12	HP:0007843	Attenuation of retinal blood vessels	1/2	OMIM:617166
2257	FGF12	HP:0032792	Tonic seizure	2/2	OMIM:617166
2257	FGF12	HP:0000348	High forehead	HP:0040283	ORPHA:442835
2257	FGF12	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
2257	FGF12	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
2257	FGF12	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
2257	FGF12	HP:0012450	Chronic constipation	-	OMIM:617166
2257	FGF12	HP:0005484	Secondary microcephaly	2/2	OMIM:617166
2257	FGF12	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
2257	FGF12	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
2257	FGF12	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
2257	FGF12	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
2257	FGF12	HP:0000543	Optic disc pallor	1/2	OMIM:617166
2258	FGF13	HP:0010945	Fetal pyelectasis	1/7	OMIM:301058
2258	FGF13	HP:0010864	Intellectual disability, severe	3/3	OMIM:301095
2258	FGF13	HP:0010851	EEG with burst suppression	1/7	OMIM:301058
2258	FGF13	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:36387
2258	FGF13	HP:0001252	Hypotonia	HP:0040283	ORPHA:36387
2258	FGF13	HP:0001252	Hypotonia	2/7	OMIM:301058
2258	FGF13	HP:0001251	Ataxia	HP:0040283	ORPHA:36387
2258	FGF13	HP:0002572	Episodic vomiting	1/3	OMIM:301095
2258	FGF13	HP:0008770	Obsessive-compulsive trait	HP:0040284	ORPHA:36387
2258	FGF13	HP:0007359	Focal-onset seizure	6/7	OMIM:301058
2258	FGF13	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:36387
2258	FGF13	HP:0002539	Cortical dysplasia	HP:0040283	ORPHA:36387
2258	FGF13	HP:0002521	Hypsarrhythmia	3/7	OMIM:301058
2258	FGF13	HP:0002509	Limb hypertonia	3/7	OMIM:301058
2258	FGF13	HP:0001344	Absent speech	1/3	OMIM:301095
2258	FGF13	HP:0001337	Tremor	HP:0040284	ORPHA:36387
2258	FGF13	HP:0001419	X-linked recessive inheritance	-	OMIM:301095
2258	FGF13	HP:0001419	X-linked recessive inheritance	-	OMIM:301058
2258	FGF13	HP:0004684	Talipes valgus	HP:0040284	ORPHA:36387
2258	FGF13	HP:0002019	Constipation	1/7	OMIM:301058
2258	FGF13	HP:0002027	Abdominal pain	1/7	OMIM:301058
2258	FGF13	HP:0005949	Apneic episodes in infancy	5/7	OMIM:301058
2258	FGF13	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:36387
2258	FGF13	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:36387
2258	FGF13	HP:0002069	Bilateral tonic-clonic seizure	4/7	OMIM:301058
2258	FGF13	HP:0002067	Bradykinesia	HP:0040284	ORPHA:36387
2258	FGF13	HP:0002067	Bradykinesia	1/3	OMIM:301095
2258	FGF13	HP:0002059	Cerebral atrophy	-	OMIM:301058
2258	FGF13	HP:0003487	Babinski sign	1/7	OMIM:301058
2258	FGF13	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:36387
2258	FGF13	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:36387
2258	FGF13	HP:0002133	Status epilepticus	HP:0040284	ORPHA:36387
2258	FGF13	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:36387
2258	FGF13	HP:0003593	Infantile onset	4/7	OMIM:301058
2258	FGF13	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:36387
2258	FGF13	HP:0007058	Generalized cerebral atrophy/hypoplasia	HP:0040283	ORPHA:36387
2258	FGF13	HP:0002384	Focal impaired awareness seizure	1/7	OMIM:301058
2258	FGF13	HP:0002384	Focal impaired awareness seizure	HP:0040284	ORPHA:36387
2258	FGF13	HP:0002376	Developmental regression	HP:0040283	ORPHA:36387
2258	FGF13	HP:0002376	Developmental regression	1/7	OMIM:301058
2258	FGF13	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:36387
2258	FGF13	HP:0010819	Atonic seizure	HP:0040283	ORPHA:36387
2258	FGF13	HP:0100694	Tibial torsion	HP:0040284	ORPHA:36387
2258	FGF13	HP:0003623	Neonatal onset	3/7	OMIM:301058
2258	FGF13	HP:0002311	Incoordination	HP:0040283	ORPHA:36387
2258	FGF13	HP:0011344	Severe global developmental delay	5/7	OMIM:301058
2258	FGF13	HP:0003066	Limited knee extension	HP:0040284	ORPHA:36387
2258	FGF13	HP:0012736	Profound global developmental delay	2/7	OMIM:301058
2258	FGF13	HP:0000739	Anxiety	HP:0040284	ORPHA:36387
2258	FGF13	HP:0000729	Autistic behavior	HP:0040284	ORPHA:36387
2258	FGF13	HP:0000729	Autistic behavior	4/7	OMIM:301058
2258	FGF13	HP:0011463	Childhood onset	3/3	OMIM:301095
2258	FGF13	HP:0011448	Ankle clonus	1/7	OMIM:301058
2258	FGF13	HP:0000821	Hypothyroidism	1/7	OMIM:301058
2258	FGF13	HP:0001631	Atrial septal defect	1/7	OMIM:301058
2258	FGF13	HP:0011151	Atypical absence status epilepticus	HP:0040283	ORPHA:36387
2258	FGF13	HP:0001763	Pes planus	HP:0040284	ORPHA:36387
2259	FGF14	HP:0002495	Impaired vibratory sensation	9/14	OMIM:193003
2259	FGF14	HP:0001272	Cerebellar atrophy	67/91	OMIM:620174
2259	FGF14	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:98764
2259	FGF14	HP:0001272	Cerebellar atrophy	2/9	OMIM:193003
2259	FGF14	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98764
2259	FGF14	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:98764
2259	FGF14	HP:0001260	Dysarthria	63/118	OMIM:620174
2259	FGF14	HP:0001260	Dysarthria	HP:0040281	ORPHA:98764
2259	FGF14	HP:0001260	Dysarthria	11/14	OMIM:193003
2259	FGF14	HP:0001337	Tremor	HP:0040281	ORPHA:98764
2259	FGF14	HP:0000006	Autosomal dominant inheritance	-	OMIM:620174
2259	FGF14	HP:0000006	Autosomal dominant inheritance	-	OMIM:193003
2259	FGF14	HP:0007670	Abnormal vestibulo-ocular reflex	-	OMIM:193003
2259	FGF14	HP:0002066	Gait ataxia	113/118	OMIM:620174
2259	FGF14	HP:0002066	Gait ataxia	HP:0040282	ORPHA:98764
2259	FGF14	HP:0002066	Gait ataxia	11/14	OMIM:193003
2259	FGF14	HP:0003390	Sensory axonal neuropathy	HP:0040282	ORPHA:98764
2259	FGF14	HP:0002078	Truncal ataxia	HP:0040282	ORPHA:98764
2259	FGF14	HP:0002070	Limb ataxia	94/118	OMIM:620174
2259	FGF14	HP:0002070	Limb ataxia	HP:0040282	ORPHA:98764
2259	FGF14	HP:0002070	Limb ataxia	12/14	OMIM:193003
2259	FGF14	HP:0002174	Postural tremor	-	OMIM:193003
2259	FGF14	HP:0002174	Postural tremor	18/114	OMIM:620174
2259	FGF14	HP:0010545	Downbeat nystagmus	50/199	OMIM:620174
2259	FGF14	HP:0010526	Dysgraphia	HP:0040284	ORPHA:98764
2259	FGF14	HP:0003581	Adult onset	122/122	OMIM:620174
2259	FGF14	HP:0002378	Hand tremor	HP:0040283	ORPHA:98764
2259	FGF14	HP:0002354	Memory impairment	HP:0040282	ORPHA:98764
2259	FGF14	HP:0003680	Nonprogressive	-	OMIM:193003
2259	FGF14	HP:0002321	Vertigo	33/114	OMIM:620174
2259	FGF14	HP:0002310	Orofacial dyskinesia	8/14	OMIM:193003
2259	FGF14	HP:0002304	Akinesia	HP:0040284	ORPHA:98764
2259	FGF14	HP:0007179	Absent smooth pursuit	-	OMIM:193003
2259	FGF14	HP:0000640	Gaze-evoked nystagmus	HP:0040281	ORPHA:98764
2259	FGF14	HP:0000640	Gaze-evoked nystagmus	12/14	OMIM:193003
2259	FGF14	HP:0000651	Diplopia	57/120	OMIM:620174
2259	FGF14	HP:0000642	Red-green dyschromatopsia	HP:0040283	ORPHA:98764
2259	FGF14	HP:0000716	Depression	HP:0040283	ORPHA:98764
2259	FGF14	HP:0000716	Depression	2/14	OMIM:193003
2259	FGF14	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:98764
2259	FGF14	HP:0011477	Upbeat nystagmus	-	OMIM:193003
2259	FGF14	HP:0011463	Childhood onset	-	OMIM:193003
2259	FGF14	HP:0007772	Impaired smooth pursuit	-	OMIM:193003
2259	FGF14	HP:0007979	Gaze-evoked horizontal nystagmus	65/119	OMIM:620174
2259	FGF14	HP:0000486	Strabismus	HP:0040283	ORPHA:98764
2259	FGF14	HP:0000486	Strabismus	-	OMIM:193003
2259	FGF14	HP:0001761	Pes cavus	HP:0040282	ORPHA:98764
2259	FGF14	HP:0001761	Pes cavus	3/17	OMIM:193003
2260	FGFR1	HP:0001171	Split hand	HP:0040282	ORPHA:2117
2260	FGFR1	HP:0001169	Broad palm	-	OMIM:166250
2260	FGFR1	HP:0001156	Brachydactyly	2/5	OMIM:166250
2260	FGFR1	HP:0001156	Brachydactyly	HP:0040283	ORPHA:2645
2260	FGFR1	HP:0001159	Syndactyly	-	OMIM:101600
2260	FGFR1	HP:0001159	Syndactyly	-	OMIM:615465
2260	FGFR1	HP:0002465	Poor speech	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0002465	Poor speech	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0003795	Short middle phalanx of toe	-	OMIM:101600
2260	FGFR1	HP:0001140	Limbal dermoid	-	OMIM:613001
2260	FGFR1	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:432
2260	FGFR1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0002451	Limb dystonia	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0002445	Tetraplegia	HP:0040283	ORPHA:2396
2260	FGFR1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0009932	Single naris	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0009932	Single naris	HP:0040284	ORPHA:93924
2260	FGFR1	HP:0009914	Cyclopia	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0009914	Cyclopia	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0009914	Cyclopia	HP:0040284	ORPHA:93924
2260	FGFR1	HP:0003745	Sporadic	-	OMIM:613001
2260	FGFR1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2260	FGFR1	HP:0002410	Aqueductal stenosis	HP:0040283	ORPHA:93258
2260	FGFR1	HP:0001293	Cranial nerve compression	-	OMIM:131300
2260	FGFR1	HP:6000648	3-4 toe cutaneous syndactyly	1/5	OMIM:101600
2260	FGFR1	HP:0001276	Hypertonia	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0001274	Agenesis of corpus callosum	HP:0040283	OMIM:147950
2260	FGFR1	HP:0001274	Agenesis of corpus callosum	-	OMIM:613001
2260	FGFR1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0001274	Agenesis of corpus callosum	5/5	OMIM:615465
2260	FGFR1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:3157
2260	FGFR1	HP:0001269	Hemiparesis	HP:0040283	ORPHA:2396
2260	FGFR1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
2260	FGFR1	HP:0001254	Lethargy	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0001254	Lethargy	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0001250	Seizure	HP:0040282	ORPHA:3157
2260	FGFR1	HP:0001250	Seizure	HP:0040281	ORPHA:2396
2260	FGFR1	HP:0001250	Seizure	1/5	OMIM:613001
2260	FGFR1	HP:0001250	Seizure	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0001250	Seizure	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0001250	Seizure	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0001250	Seizure	HP:0040283	ORPHA:478
2260	FGFR1	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
2260	FGFR1	HP:0001252	Hypotonia	2/7	OMIM:615777
2260	FGFR1	HP:0001251	Ataxia	HP:0040283	ORPHA:478
2260	FGFR1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3157
2260	FGFR1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2396
2260	FGFR1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280200
2260	FGFR1	HP:0001249	Intellectual disability	0/1	OMIM:190440
2260	FGFR1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0001249	Intellectual disability	-	OMIM:147950
2260	FGFR1	HP:0001249	Intellectual disability	-	OMIM:101600
2260	FGFR1	HP:0001249	Intellectual disability	5/7	OMIM:615777
2260	FGFR1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2645
2260	FGFR1	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
2260	FGFR1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:3157
2260	FGFR1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2396
2260	FGFR1	HP:0001263	Global developmental delay	1/5	OMIM:613001
2260	FGFR1	HP:0001263	Global developmental delay	16/16	OMIM:615465
2260	FGFR1	HP:0001263	Global developmental delay	-	OMIM:615777
2260	FGFR1	HP:0001257	Spasticity	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0001257	Spasticity	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0001257	Spasticity	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0001230	Broad metacarpals	-	OMIM:166250
2260	FGFR1	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:3157
2260	FGFR1	HP:0006110	Shortening of all middle phalanges of the fingers	-	OMIM:101600
2260	FGFR1	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:93258
2260	FGFR1	HP:0006101	Finger syndactyly	-	OMIM:101600
2260	FGFR1	HP:0100842	Septo-optic dysplasia	HP:0040281	ORPHA:3157
2260	FGFR1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:432
2260	FGFR1	HP:0008734	Decreased testicular size	1/1	OMIM:146110
2260	FGFR1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
2260	FGFR1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:3157
2260	FGFR1	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
2260	FGFR1	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:432
2260	FGFR1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040281	ORPHA:2117
2260	FGFR1	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:3157
2260	FGFR1	HP:0006009	Broad phalanx	-	OMIM:166250
2260	FGFR1	HP:0002540	Inability to walk	HP:0040284	ORPHA:93924
2260	FGFR1	HP:0002540	Inability to walk	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0002539	Cortical dysplasia	-	OMIM:613001
2260	FGFR1	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:3366
2260	FGFR1	HP:0002515	Waddling gait	54/102	OMIM:131300
2260	FGFR1	HP:0002516	Increased intracranial pressure	HP:0040284	ORPHA:3366
2260	FGFR1	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0003829	Typified by incomplete penetrance	-	OMIM:147950
2260	FGFR1	HP:0002507	Semilobar holoprosencephaly	2/7	OMIM:615465
2260	FGFR1	HP:0012062	Bone cyst	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:432
2260	FGFR1	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:147950
2260	FGFR1	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
2260	FGFR1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
2260	FGFR1	HP:0000040	Long penis	-	OMIM:190440
2260	FGFR1	HP:0001371	Flexion contracture	HP:0040284	ORPHA:93924
2260	FGFR1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0000041	Chordee	-	OMIM:166250
2260	FGFR1	HP:0012032	Lipoma	-	OMIM:613001
2260	FGFR1	HP:0000054	Micropenis	1/1	OMIM:146110
2260	FGFR1	HP:0000054	Micropenis	HP:0040281	ORPHA:478
2260	FGFR1	HP:0000054	Micropenis	HP:0040281	ORPHA:432
2260	FGFR1	HP:0000054	Micropenis	-	OMIM:147950
2260	FGFR1	HP:0000054	Micropenis	3/5	OMIM:615465
2260	FGFR1	HP:0001382	Joint hypermobility	-	OMIM:615777
2260	FGFR1	HP:0000047	Hypospadias	-	OMIM:166250
2260	FGFR1	HP:0000047	Hypospadias	-	OMIM:615465
2260	FGFR1	HP:0000023	Inguinal hernia	-	OMIM:166250
2260	FGFR1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2645
2260	FGFR1	HP:0002676	Cloverleaf skull	HP:0040283	OMIM:101600
2260	FGFR1	HP:0002676	Cloverleaf skull	-	OMIM:166250
2260	FGFR1	HP:0001363	Craniosynostosis	7/7	OMIM:166250
2260	FGFR1	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:2117
2260	FGFR1	HP:0001363	Craniosynostosis	-	OMIM:190440
2260	FGFR1	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:2645
2260	FGFR1	HP:0001363	Craniosynostosis	-	OMIM:123150
2260	FGFR1	HP:0001363	Craniosynostosis	HP:0040283	OMIM:615465
2260	FGFR1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2260	FGFR1	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:432
2260	FGFR1	HP:0000028	Cryptorchidism	-	OMIM:166250
2260	FGFR1	HP:0000028	Cryptorchidism	2/6	OMIM:147950
2260	FGFR1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3157
2260	FGFR1	HP:0000028	Cryptorchidism	-	OMIM:613001
2260	FGFR1	HP:0000028	Cryptorchidism	3/5	OMIM:615465
2260	FGFR1	HP:0000028	Cryptorchidism	-	OMIM:146110
2260	FGFR1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
2260	FGFR1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:432
2260	FGFR1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2645
2260	FGFR1	HP:0000027	Azoospermia	HP:0040281	ORPHA:432
2260	FGFR1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2260	FGFR1	HP:0007546	Linear hyperpigmentation	-	OMIM:613001
2260	FGFR1	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:3157
2260	FGFR1	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:432
2260	FGFR1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0002659	Increased susceptibility to fractures	-	OMIM:166250
2260	FGFR1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2260	FGFR1	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
2260	FGFR1	HP:0001324	Muscle weakness	40/96	OMIM:131300
2260	FGFR1	HP:0000013	Hypoplasia of the uterus	HP:0040282	ORPHA:432
2260	FGFR1	HP:0001344	Absent speech	HP:0040284	ORPHA:93924
2260	FGFR1	HP:0001344	Absent speech	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2260	FGFR1	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
2260	FGFR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
2260	FGFR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2260	FGFR1	HP:0001335	Bimanual synkinesia	-	OMIM:147950
2260	FGFR1	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
2260	FGFR1	HP:0001337	Tremor	HP:0040283	ORPHA:478
2260	FGFR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:190440
2260	FGFR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2260	FGFR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:166250
2260	FGFR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:147950
2260	FGFR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:123150
2260	FGFR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615465
2260	FGFR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:101600
2260	FGFR1	HP:0001305	Dandy-Walker malformation	-	OMIM:613001
2260	FGFR1	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:2396
2260	FGFR1	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
2260	FGFR1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0002650	Scoliosis	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0002650	Scoliosis	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0002650	Scoliosis	12/14	OMIM:131300
2260	FGFR1	HP:0002650	Scoliosis	HP:0040283	ORPHA:2645
2260	FGFR1	HP:0001321	Cerebellar hypoplasia	-	OMIM:613001
2260	FGFR1	HP:0001319	Neonatal hypotonia	-	OMIM:615465
2260	FGFR1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2260	FGFR1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2260	FGFR1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2260	FGFR1	HP:0032466	Aplasia of the olfactory bulb	1/4	OMIM:147950
2260	FGFR1	HP:0008905	Rhizomelia	HP:0040282	ORPHA:2645
2260	FGFR1	HP:0008905	Rhizomelia	2/7	OMIM:166250
2260	FGFR1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2260	FGFR1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:432
2260	FGFR1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0000161	Median cleft upper lip	1/7	OMIM:615465
2260	FGFR1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0012157	Subcortical cerebral atrophy	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0000175	Cleft palate	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
2260	FGFR1	HP:0000175	Cleft palate	HP:0040283	ORPHA:432
2260	FGFR1	HP:0000175	Cleft palate	1/8	OMIM:147950
2260	FGFR1	HP:0000175	Cleft palate	HP:0040282	ORPHA:3157
2260	FGFR1	HP:0000175	Cleft palate	HP:0040281	ORPHA:2117
2260	FGFR1	HP:0000175	Cleft palate	2/7	OMIM:615777
2260	FGFR1	HP:0000175	Cleft palate	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0000175	Cleft palate	4/7	OMIM:615465
2260	FGFR1	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
2260	FGFR1	HP:0002797	Osteolysis	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:2396
2260	FGFR1	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:99798
2260	FGFR1	HP:0006344	Abnormal primary molar morphology	HP:0040283	ORPHA:99798
2260	FGFR1	HP:0007676	Hypoplasia of the iris	-	OMIM:613001
2260	FGFR1	HP:0006336	Short dental root	HP:0040282	ORPHA:99798
2260	FGFR1	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:280200
2260	FGFR1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0006315	Solitary median maxillary central incisor	HP:0040284	ORPHA:93924
2260	FGFR1	HP:0008947	Floppy infant	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0008947	Floppy infant	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0002705	High, narrow palate	1/1	OMIM:190440
2260	FGFR1	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:99798
2260	FGFR1	HP:0006283	Multiple unerupted teeth	HP:0040281	ORPHA:2645
2260	FGFR1	HP:0006289	Agenesis of central incisor	HP:0040282	ORPHA:99798
2260	FGFR1	HP:0002780	Bronchomalacia	-	OMIM:101600
2260	FGFR1	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:432
2260	FGFR1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:432
2260	FGFR1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0002793	Abnormal pattern of respiration	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0000125	Pelvic kidney	-	OMIM:613001
2260	FGFR1	HP:0000126	Hydronephrosis	-	OMIM:613001
2260	FGFR1	HP:0002763	Abnormal cartilage morphology	HP:0040283	ORPHA:2396
2260	FGFR1	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:432
2260	FGFR1	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
2260	FGFR1	HP:0001442	Typified by somatic mosaicism	20/20	OMIM:613001
2260	FGFR1	HP:0000104	Renal agenesis	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
2260	FGFR1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
2260	FGFR1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:432
2260	FGFR1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:2645
2260	FGFR1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0002019	Constipation	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0002019	Constipation	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0002019	Constipation	HP:0040283	ORPHA:3157
2260	FGFR1	HP:0002032	Esophageal atresia	HP:0040283	ORPHA:3157
2260	FGFR1	HP:0002033	Poor suck	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0002033	Poor suck	HP:0040281	ORPHA:220386
2260	FGFR1	HP:0004691	2-3 toe syndactyly	2/6	OMIM:123150
2260	FGFR1	HP:0002015	Dysphagia	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0002015	Dysphagia	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0002013	Vomiting	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0002013	Vomiting	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0002007	Frontal bossing	1/2	OMIM:166250
2260	FGFR1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:2645
2260	FGFR1	HP:0005968	Temperature instability	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0005968	Temperature instability	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0011800	Midface retrusion	6/7	OMIM:166250
2260	FGFR1	HP:0011800	Midface retrusion	HP:0040281	ORPHA:93258
2260	FGFR1	HP:0011800	Midface retrusion	1/6	OMIM:123150
2260	FGFR1	HP:0002084	Encephalocele	HP:0040281	ORPHA:2117
2260	FGFR1	HP:0002098	Respiratory distress	-	OMIM:166250
2260	FGFR1	HP:0002099	Asthma	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0002092	Pulmonary arterial hypertension	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2117
2260	FGFR1	HP:0002069	Bilateral tonic-clonic seizure	1/7	OMIM:615465
2260	FGFR1	HP:0002063	Rigidity	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:613001
2260	FGFR1	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0003388	Easy fatigability	36/76	OMIM:131300
2260	FGFR1	HP:0008122	Calcaneonavicular fusion	1/6	OMIM:123150
2260	FGFR1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2260	FGFR1	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:432
2260	FGFR1	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:432
2260	FGFR1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0003470	Paralysis	HP:0040283	ORPHA:2396
2260	FGFR1	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0002132	Porencephalic cyst	-	OMIM:613001
2260	FGFR1	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040281	ORPHA:93258
2260	FGFR1	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0100490	Camptodactyly of finger	1/5	OMIM:166250
2260	FGFR1	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
2260	FGFR1	HP:0010529	Echolalia	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0008213	Gonadotropin deficiency	-	OMIM:615465
2260	FGFR1	HP:0011849	Abnormal bone ossification	HP:0040283	ORPHA:2645
2260	FGFR1	HP:0034587	Nevus psiloliparus	5/5	OMIM:613001
2260	FGFR1	HP:0009592	Astrocytoma	2/5	OMIM:613001
2260	FGFR1	HP:0003593	Infantile onset	1/2	OMIM:166250
2260	FGFR1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0002245	Meckel diverticulum	-	OMIM:190440
2260	FGFR1	HP:0003577	Congenital onset	5/5	OMIM:613001
2260	FGFR1	HP:0003577	Congenital onset	1/1	OMIM:190440
2260	FGFR1	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0100702	Arachnoid cyst	-	OMIM:613001
2260	FGFR1	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
2260	FGFR1	HP:0002231	Sparse body hair	HP:0040281	ORPHA:432
2260	FGFR1	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
2260	FGFR1	HP:0100761	Visceral angiomatosis	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0010654	Aplasia of the falx cerebri	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0010644	Midnasal stenosis	HP:0040281	ORPHA:280200
2260	FGFR1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93924
2260	FGFR1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:220386
2260	FGFR1	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:432
2260	FGFR1	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:3157
2260	FGFR1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0010622	Neoplasm of the skeletal system	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0003510	Severe short stature	7/7	OMIM:615777
2260	FGFR1	HP:0003510	Severe short stature	HP:0040281	ORPHA:2645
2260	FGFR1	HP:0003510	Severe short stature	7/7	OMIM:166250
2260	FGFR1	HP:0001052	Nevus flammeus	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0002381	Aphasia	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:3157
2260	FGFR1	HP:0001031	Subcutaneous lipoma	-	OMIM:613001
2260	FGFR1	HP:0001028	Hemangioma	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0001012	Multiple lipomas	HP:0040281	ORPHA:2396
2260	FGFR1	HP:0002315	Headache	-	OMIM:131300
2260	FGFR1	HP:0004976	Knee dislocation	6/7	OMIM:615777
2260	FGFR1	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:432
2260	FGFR1	HP:0009826	Limb undergrowth	-	OMIM:166250
2260	FGFR1	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:280200
2260	FGFR1	HP:0009804	Tooth agenesis	2/8	OMIM:147950
2260	FGFR1	HP:0009804	Tooth agenesis	HP:0040281	ORPHA:2645
2260	FGFR1	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
2260	FGFR1	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:3157
2260	FGFR1	HP:0009803	Short phalanx of finger	-	OMIM:166250
2260	FGFR1	HP:0009803	Short phalanx of finger	-	OMIM:615777
2260	FGFR1	HP:0001085	Papilledema	HP:0040284	ORPHA:3366
2260	FGFR1	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
2260	FGFR1	HP:0009778	Short thumb	2/5	OMIM:166250
2260	FGFR1	HP:0010743	Short metatarsal	-	OMIM:166250
2260	FGFR1	HP:0009763	Limb pain	63/92	OMIM:131300
2260	FGFR1	HP:0008439	Lumbar hemivertebrae	-	OMIM:190440
2260	FGFR1	HP:0002300	Mutism	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0002301	Hemiplegia	HP:0040283	ORPHA:2396
2260	FGFR1	HP:0002308	Chiari malformation	-	OMIM:101600
2260	FGFR1	HP:0004969	Peripheral pulmonary artery stenosis	-	OMIM:613001
2260	FGFR1	HP:0003621	Juvenile onset	2/2	OMIM:146110
2260	FGFR1	HP:0003621	Juvenile onset	-	OMIM:131300
2260	FGFR1	HP:0006870	Lobar holoprosencephaly	13/17	OMIM:615465
2260	FGFR1	HP:0006870	Lobar holoprosencephaly	HP:0040281	ORPHA:2117
2260	FGFR1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2260	FGFR1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0010086	Broad proximal phalanx of the hallux	2/6	OMIM:123150
2260	FGFR1	HP:0010068	Broad first metatarsal	5/6	OMIM:123150
2260	FGFR1	HP:0010077	Broad distal phalanx of the hallux	4/6	OMIM:123150
2260	FGFR1	HP:0010059	Broad hallux phalanx	HP:0040281	ORPHA:93258
2260	FGFR1	HP:0004279	Short palm	HP:0040282	ORPHA:93258
2260	FGFR1	HP:0004279	Short palm	-	OMIM:166250
2260	FGFR1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2260	FGFR1	HP:0000639	Nystagmus	HP:0040282	ORPHA:3157
2260	FGFR1	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
2260	FGFR1	HP:6001056	Out-toeing	-	OMIM:131300
2260	FGFR1	HP:0000651	Diplopia	-	OMIM:131300
2260	FGFR1	HP:0000647	Sclerocornea	-	OMIM:613001
2260	FGFR1	HP:0000612	Iris coloboma	HP:0040283	OMIM:147950
2260	FGFR1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0000612	Iris coloboma	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0000614	Abnormal nasolacrimal system morphology	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0001959	Polydipsia	HP:0040283	ORPHA:3157
2260	FGFR1	HP:0000625	Eyelid coloboma	2/5	OMIM:613001
2260	FGFR1	HP:0001956	Truncal obesity	2/7	OMIM:615777
2260	FGFR1	HP:0000609	Optic nerve hypoplasia	HP:0040281	ORPHA:3157
2260	FGFR1	HP:0000601	Hypotelorism	HP:0040282	ORPHA:280200
2260	FGFR1	HP:0000601	Hypotelorism	1/1	OMIM:190440
2260	FGFR1	HP:0000601	Hypotelorism	HP:0040282	ORPHA:3366
2260	FGFR1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93924
2260	FGFR1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:220386
2260	FGFR1	HP:0000601	Hypotelorism	2/7	OMIM:615465
2260	FGFR1	HP:0001903	Anemia	HP:0040283	OMIM:131300
2260	FGFR1	HP:0010049	Short metacarpal	-	OMIM:615777
2260	FGFR1	HP:0010049	Short metacarpal	-	OMIM:166250
2260	FGFR1	HP:0010055	Broad hallux	-	OMIM:123150
2260	FGFR1	HP:0010055	Broad hallux	-	OMIM:101600
2260	FGFR1	HP:0000696	Delayed eruption of permanent teeth	HP:0040282	ORPHA:99798
2260	FGFR1	HP:0000684	Delayed eruption of teeth	1/5	OMIM:166250
2260	FGFR1	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:99798
2260	FGFR1	HP:0000679	Taurodontia	HP:0040283	ORPHA:99798
2260	FGFR1	HP:0000678	Dental crowding	-	OMIM:615777
2260	FGFR1	HP:0000678	Dental crowding	-	OMIM:101600
2260	FGFR1	HP:0000677	Oligodontia	HP:0040280	ORPHA:99798
2260	FGFR1	HP:0000691	Microdontia	HP:0040282	ORPHA:99798
2260	FGFR1	HP:0000690	Agenesis of maxillary lateral incisor	HP:0040282	ORPHA:99798
2260	FGFR1	HP:0011330	Metopic synostosis	1/1	OMIM:190440
2260	FGFR1	HP:0011330	Metopic synostosis	HP:0040281	ORPHA:3366
2260	FGFR1	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:99798
2260	FGFR1	HP:0000685	Hypoplasia of teeth	HP:0040283	ORPHA:99798
2260	FGFR1	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:99798
2260	FGFR1	HP:0011318	Bicoronal synostosis	HP:0040281	ORPHA:93258
2260	FGFR1	HP:0000670	Carious teeth	-	OMIM:131300
2260	FGFR1	HP:0011304	Broad thumb	2/7	OMIM:615777
2260	FGFR1	HP:0011304	Broad thumb	HP:0040281	ORPHA:93258
2260	FGFR1	HP:0011304	Broad thumb	2/5	OMIM:166250
2260	FGFR1	HP:0011304	Broad thumb	-	OMIM:101600
2260	FGFR1	HP:0000668	Hypodontia	-	OMIM:615777
2260	FGFR1	HP:0000664	Synophrys	HP:0040282	ORPHA:3366
2260	FGFR1	HP:0000664	Synophrys	-	OMIM:615777
2260	FGFR1	HP:0000664	Synophrys	-	OMIM:190440
2260	FGFR1	HP:0006988	Alobar holoprosencephaly	2/7	OMIM:615465
2260	FGFR1	HP:0004322	Short stature	HP:0040282	ORPHA:3157
2260	FGFR1	HP:0004322	Short stature	HP:0040281	ORPHA:220386
2260	FGFR1	HP:0004322	Short stature	HP:0040282	ORPHA:280200
2260	FGFR1	HP:0004322	Short stature	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0004322	Short stature	-	OMIM:147950
2260	FGFR1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
2260	FGFR1	HP:0030680	Abnormal cardiovascular system morphology	-	OMIM:147950
2260	FGFR1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:3157
2260	FGFR1	HP:0003070	Elbow ankylosis	-	OMIM:101600
2260	FGFR1	HP:0000802	Impotence	HP:0040281	ORPHA:432
2260	FGFR1	HP:0004396	Poor appetite	-	OMIM:131300
2260	FGFR1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2260	FGFR1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2260	FGFR1	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:3157
2260	FGFR1	HP:0003041	Humeroradial synostosis	-	OMIM:101600
2260	FGFR1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2260	FGFR1	HP:0003026	Short long bone	7/7	OMIM:615777
2260	FGFR1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2260	FGFR1	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
2260	FGFR1	HP:0000771	Gynecomastia	HP:0040282	ORPHA:432
2260	FGFR1	HP:0000771	Gynecomastia	-	OMIM:147950
2260	FGFR1	HP:0000771	Gynecomastia	0/1	OMIM:146110
2260	FGFR1	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
2260	FGFR1	HP:0000767	Pectus excavatum	1/5	OMIM:166250
2260	FGFR1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2260	FGFR1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2260	FGFR1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2260	FGFR1	HP:0000737	Irritability	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0000737	Irritability	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0000739	Anxiety	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0000739	Anxiety	HP:0040282	ORPHA:432
2260	FGFR1	HP:0000739	Anxiety	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0000750	Delayed speech and language development	-	OMIM:166250
2260	FGFR1	HP:0000750	Delayed speech and language development	1/1	OMIM:190440
2260	FGFR1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:3366
2260	FGFR1	HP:0000750	Delayed speech and language development	-	OMIM:615777
2260	FGFR1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0000741	Apathy	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0000741	Apathy	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0000716	Depression	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0000716	Depression	HP:0040282	ORPHA:432
2260	FGFR1	HP:0000716	Depression	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0000717	Autism	HP:0040283	ORPHA:3157
2260	FGFR1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0000706	Eruption failure	3/7	OMIM:166250
2260	FGFR1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0011463	Childhood onset	1/2	OMIM:166250
2260	FGFR1	HP:0011461	Fetal onset	7/7	OMIM:615777
2260	FGFR1	HP:0010109	Short hallux	HP:0040281	ORPHA:93258
2260	FGFR1	HP:0010105	Short first metatarsal	2/6	OMIM:123150
2260	FGFR1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0009125	Lipodystrophy	HP:0040281	ORPHA:2396
2260	FGFR1	HP:0000774	Narrow chest	2/7	OMIM:615777
2260	FGFR1	HP:0012759	Neurodevelopmental abnormality	HP:0040281	ORPHA:2396
2260	FGFR1	HP:0000789	Infertility	HP:0040283	OMIM:146110
2260	FGFR1	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:432
2260	FGFR1	HP:0000786	Primary amenorrhea	-	OMIM:147950
2260	FGFR1	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
2260	FGFR1	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
2260	FGFR1	HP:0004440	Coronal craniosynostosis	-	OMIM:101600
2260	FGFR1	HP:0004440	Coronal craniosynostosis	1/6	OMIM:123150
2260	FGFR1	HP:0004409	Hyposmia	1/8	OMIM:147950
2260	FGFR1	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
2260	FGFR1	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
2260	FGFR1	HP:0003196	Short nose	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0003196	Short nose	1/5	OMIM:166250
2260	FGFR1	HP:0003196	Short nose	1/1	OMIM:190440
2260	FGFR1	HP:0003196	Short nose	-	OMIM:101600
2260	FGFR1	HP:0003196	Short nose	HP:0040281	ORPHA:93258
2260	FGFR1	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0000926	Platyspondyly	-	OMIM:166250
2260	FGFR1	HP:0000926	Platyspondyly	1/7	OMIM:615777
2260	FGFR1	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:432
2260	FGFR1	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
2260	FGFR1	HP:0003180	Flat acetabular roof	-	OMIM:615777
2260	FGFR1	HP:0004482	Relative macrocephaly	-	OMIM:615777
2260	FGFR1	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
2260	FGFR1	HP:0004493	Craniofacial hyperostosis	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2260	FGFR1	HP:0000882	Hypoplastic scapulae	-	OMIM:166250
2260	FGFR1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0000873	Diabetes insipidus	-	OMIM:615465
2260	FGFR1	HP:0000873	Diabetes insipidus	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:3157
2260	FGFR1	HP:0000889	Abnormal clavicle morphology	HP:0040282	ORPHA:2645
2260	FGFR1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:432
2260	FGFR1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040282	ORPHA:3157
2260	FGFR1	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
2260	FGFR1	HP:0100335	Non-midline cleft of the upper lip	HP:0040281	ORPHA:2117
2260	FGFR1	HP:0012806	Proboscis	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0012806	Proboscis	HP:0040284	ORPHA:93924
2260	FGFR1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0000823	Delayed puberty	HP:0040282	ORPHA:432
2260	FGFR1	HP:0000823	Delayed puberty	6/8	OMIM:147950
2260	FGFR1	HP:0000823	Delayed puberty	-	OMIM:131300
2260	FGFR1	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
2260	FGFR1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0000894	Short clavicles	-	OMIM:615777
2260	FGFR1	HP:0003228	Hypernatremia	-	OMIM:615465
2260	FGFR1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2260	FGFR1	HP:0005864	Pseudoarthrosis	-	OMIM:166250
2260	FGFR1	HP:0100251	Multiple central nervous system lipomas	-	OMIM:613001
2260	FGFR1	HP:0100257	Ectrodactyly	HP:0040283	OMIM:147950
2260	FGFR1	HP:0100257	Ectrodactyly	6/7	OMIM:615465
2260	FGFR1	HP:0000991	Xanthomatosis	HP:0040281	ORPHA:2396
2260	FGFR1	HP:0011611	Interrupted aortic arch	HP:0040283	ORPHA:2396
2260	FGFR1	HP:0000958	Dry skin	HP:0040283	ORPHA:3157
2260	FGFR1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2260	FGFR1	HP:0000966	Hypohidrosis	HP:0040283	ORPHA:3157
2260	FGFR1	HP:0000939	Osteoporosis	HP:0040282	ORPHA:432
2260	FGFR1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0045005	Neural tube defect	HP:0040284	ORPHA:93924
2260	FGFR1	HP:0000938	Osteopenia	2/5	OMIM:166250
2260	FGFR1	HP:0000938	Osteopenia	HP:0040282	ORPHA:432
2260	FGFR1	HP:0000938	Osteopenia	HP:0040283	OMIM:147950
2260	FGFR1	HP:0000943	Dysostosis multiplex	HP:0040283	ORPHA:2396
2260	FGFR1	HP:0008080	Hallux varus	1/6	OMIM:123150
2260	FGFR1	HP:0008080	Hallux varus	HP:0040281	ORPHA:93258
2260	FGFR1	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:432
2260	FGFR1	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
2260	FGFR1	HP:0040188	Osteochondrosis	HP:0040283	ORPHA:2396
2260	FGFR1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0000286	Epicanthus	-	OMIM:615465
2260	FGFR1	HP:0000286	Epicanthus	1/1	OMIM:190440
2260	FGFR1	HP:0000286	Epicanthus	1/7	OMIM:615777
2260	FGFR1	HP:0000280	Coarse facial features	2/7	OMIM:615777
2260	FGFR1	HP:0001596	Alopecia	HP:0040281	ORPHA:2396
2260	FGFR1	HP:0001596	Alopecia	5/5	OMIM:613001
2260	FGFR1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0000272	Malar flattening	5/5	OMIM:166250
2260	FGFR1	HP:0000272	Malar flattening	-	OMIM:123150
2260	FGFR1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0002827	Hip dislocation	3/7	OMIM:615777
2260	FGFR1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0030084	Clinodactyly	HP:0040283	OMIM:147950
2260	FGFR1	HP:0000244	Brachyturricephaly	-	OMIM:101600
2260	FGFR1	HP:0000243	Trigonocephaly	1/1	OMIM:190440
2260	FGFR1	HP:0000243	Trigonocephaly	HP:0040281	ORPHA:3366
2260	FGFR1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0000238	Hydrocephalus	-	OMIM:101600
2260	FGFR1	HP:0000238	Hydrocephalus	-	OMIM:613001
2260	FGFR1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0000252	Microcephaly	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0000252	Microcephaly	HP:0040282	ORPHA:280200
2260	FGFR1	HP:0000252	Microcephaly	-	OMIM:190440
2260	FGFR1	HP:0000252	Microcephaly	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0000252	Microcephaly	-	OMIM:615465
2260	FGFR1	HP:0000252	Microcephaly	-	OMIM:615777
2260	FGFR1	HP:0000248	Brachycephaly	HP:0040281	ORPHA:93258
2260	FGFR1	HP:0000218	High palate	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0000218	High palate	-	OMIM:166250
2260	FGFR1	HP:0000218	High palate	HP:0040281	ORPHA:93258
2260	FGFR1	HP:0000218	High palate	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0000218	High palate	-	OMIM:101600
2260	FGFR1	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
2260	FGFR1	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:2645
2260	FGFR1	HP:0030019	Increased female libido	HP:0040281	ORPHA:432
2260	FGFR1	HP:0002857	Genu valgum	-	OMIM:131300
2260	FGFR1	HP:0002871	Central apnea	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0002871	Central apnea	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0001539	Omphalocele	-	OMIM:190440
2260	FGFR1	HP:0001539	Omphalocele	HP:0040283	ORPHA:3366
2260	FGFR1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:99798
2260	FGFR1	HP:0001533	Slender build	-	OMIM:131300
2260	FGFR1	HP:0000204	Cleft upper lip	1/8	OMIM:147950
2260	FGFR1	HP:0000204	Cleft upper lip	3/7	OMIM:615465
2260	FGFR1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0001508	Failure to thrive	-	OMIM:166250
2260	FGFR1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:220386
2260	FGFR1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:280200
2260	FGFR1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2117
2260	FGFR1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2260	FGFR1	HP:0001510	Growth delay	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0001510	Growth delay	4/5	OMIM:166250
2260	FGFR1	HP:0001510	Growth delay	HP:0040281	ORPHA:220386
2260	FGFR1	HP:0001510	Growth delay	6/6	OMIM:615465
2260	FGFR1	HP:0001513	Obesity	HP:0040283	ORPHA:478
2260	FGFR1	HP:0001513	Obesity	HP:0040283	ORPHA:3157
2260	FGFR1	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040282	ORPHA:2117
2260	FGFR1	HP:0007807	Optic nerve compression	-	OMIM:131300
2260	FGFR1	HP:0011078	Abnormality of canine	HP:0040283	ORPHA:99798
2260	FGFR1	HP:0012378	Fatigue	HP:0040283	ORPHA:3157
2260	FGFR1	HP:0011053	Agenesis of mandibular premolar	HP:0040283	ORPHA:99798
2260	FGFR1	HP:0012385	Camptodactyly	HP:0040283	ORPHA:432
2260	FGFR1	HP:0011051	Agenesis of premolar	HP:0040282	ORPHA:99798
2260	FGFR1	HP:0011056	Agenesis of first permanent molar tooth	HP:0040282	ORPHA:99798
2260	FGFR1	HP:0000384	Preauricular skin tag	-	OMIM:190440
2260	FGFR1	HP:0012368	Flat face	7/7	OMIM:615777
2260	FGFR1	HP:0005216	Impaired mastication	HP:0040281	ORPHA:99798
2260	FGFR1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:432
2260	FGFR1	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
2260	FGFR1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2260	FGFR1	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:99798
2260	FGFR1	HP:0006487	Bowing of the long bones	-	OMIM:166250
2260	FGFR1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:93258
2260	FGFR1	HP:0000365	Hearing impairment	10/67	OMIM:131300
2260	FGFR1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:2117
2260	FGFR1	HP:0000358	Posteriorly rotated ears	-	OMIM:615465
2260	FGFR1	HP:0000369	Low-set ears	-	OMIM:166250
2260	FGFR1	HP:0000369	Low-set ears	HP:0040282	ORPHA:93258
2260	FGFR1	HP:0000369	Low-set ears	-	OMIM:615465
2260	FGFR1	HP:0000341	Narrow forehead	HP:0040282	ORPHA:3366
2260	FGFR1	HP:0000343	Long philtrum	-	OMIM:166250
2260	FGFR1	HP:0000343	Long philtrum	1/1	OMIM:190440
2260	FGFR1	HP:0000343	Long philtrum	1/7	OMIM:615777
2260	FGFR1	HP:0011001	Increased bone mineral density	-	OMIM:131300
2260	FGFR1	HP:0000336	Prominent supraorbital ridges	3/5	OMIM:166250
2260	FGFR1	HP:0000336	Prominent supraorbital ridges	HP:0040282	ORPHA:3366
2260	FGFR1	HP:0001682	Subvalvular aortic stenosis	-	OMIM:613001
2260	FGFR1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:2396
2260	FGFR1	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:2396
2260	FGFR1	HP:0000348	High forehead	HP:0040281	ORPHA:93258
2260	FGFR1	HP:0000347	Micrognathia	HP:0040282	ORPHA:2645
2260	FGFR1	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:2396
2260	FGFR1	HP:0000316	Hypertelorism	1/2	OMIM:166250
2260	FGFR1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:93258
2260	FGFR1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2117
2260	FGFR1	HP:0000316	Hypertelorism	2/7	OMIM:615465
2260	FGFR1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:432
2260	FGFR1	HP:0000316	Hypertelorism	-	OMIM:101600
2260	FGFR1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2645
2260	FGFR1	HP:0000311	Round face	2/7	OMIM:615777
2260	FGFR1	HP:0000327	Hypoplasia of the maxilla	3/5	OMIM:166250
2260	FGFR1	HP:0000327	Hypoplasia of the maxilla	-	OMIM:101600
2260	FGFR1	HP:0000322	Short philtrum	HP:0040282	ORPHA:280200
2260	FGFR1	HP:0001629	Ventricular septal defect	-	OMIM:613001
2260	FGFR1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93924
2260	FGFR1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:220386
2260	FGFR1	HP:0001622	Premature birth	HP:0040282	ORPHA:280200
2260	FGFR1	HP:0002970	Genu varum	-	OMIM:615777
2260	FGFR1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0001631	Atrial septal defect	-	OMIM:613001
2260	FGFR1	HP:0000303	Mandibular prognathia	-	OMIM:131300
2260	FGFR1	HP:0000303	Mandibular prognathia	1/2	OMIM:166250
2260	FGFR1	HP:0000303	Mandibular prognathia	-	OMIM:101600
2260	FGFR1	HP:0007957	Corneal opacity	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:432
2260	FGFR1	HP:0000499	Abnormal eyelash morphology	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0005347	Tracheal cartilaginous sleeve	20/20	OMIM:101600
2260	FGFR1	HP:0005306	Capillary hemangioma	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0000407	Sensorineural hearing impairment	-	OMIM:147950
2260	FGFR1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:3157
2260	FGFR1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
2260	FGFR1	HP:0001704	Tricuspid valve prolapse	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0005280	Depressed nasal bridge	-	OMIM:166250
2260	FGFR1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:432
2260	FGFR1	HP:0005280	Depressed nasal bridge	-	OMIM:101600
2260	FGFR1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:93258
2260	FGFR1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:2117
2260	FGFR1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2260	FGFR1	HP:0000486	Strabismus	HP:0040282	ORPHA:3157
2260	FGFR1	HP:0000486	Strabismus	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0000486	Strabismus	-	OMIM:101600
2260	FGFR1	HP:0012472	Eclabion	HP:0040283	ORPHA:99798
2260	FGFR1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:220386
2260	FGFR1	HP:0000494	Downslanted palpebral fissures	-	OMIM:166250
2260	FGFR1	HP:0000494	Downslanted palpebral fissures	-	OMIM:101600
2260	FGFR1	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:2117
2260	FGFR1	HP:0000492	Abnormal eyelid morphology	HP:0040282	ORPHA:2396
2260	FGFR1	HP:0000488	Retinopathy	HP:0040281	ORPHA:2396
2260	FGFR1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:280200
2260	FGFR1	HP:0000463	Anteverted nares	-	OMIM:166250
2260	FGFR1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2645
2260	FGFR1	HP:0000458	Anosmia	2/8	OMIM:147950
2260	FGFR1	HP:0000458	Anosmia	HP:0040283	ORPHA:3157
2260	FGFR1	HP:0000458	Anosmia	HP:0040281	ORPHA:478
2260	FGFR1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93924
2260	FGFR1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:220386
2260	FGFR1	HP:0000470	Short neck	2/5	OMIM:166250
2260	FGFR1	HP:0000470	Short neck	1/7	OMIM:615777
2260	FGFR1	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:93258
2260	FGFR1	HP:0001773	Short foot	HP:0040282	ORPHA:93258
2260	FGFR1	HP:0001773	Short foot	-	OMIM:166250
2260	FGFR1	HP:0001769	Broad foot	-	OMIM:166250
2260	FGFR1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2260	FGFR1	HP:0001763	Pes planus	HP:0040283	ORPHA:478
2260	FGFR1	HP:0001763	Pes planus	1/7	OMIM:615777
2260	FGFR1	HP:0000453	Choanal atresia	-	OMIM:147950
2260	FGFR1	HP:0000453	Choanal atresia	HP:0040281	ORPHA:280200
2260	FGFR1	HP:0000453	Choanal atresia	HP:0040283	ORPHA:2645
2260	FGFR1	HP:0000453	Choanal atresia	1/5	OMIM:166250
2260	FGFR1	HP:0000453	Choanal atresia	-	OMIM:101600
2260	FGFR1	HP:0001783	Broad metatarsal	-	OMIM:166250
2260	FGFR1	HP:0001783	Broad metatarsal	-	OMIM:123150
2260	FGFR1	HP:0000452	Choanal stenosis	-	OMIM:101600
2260	FGFR1	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:280200
2260	FGFR1	HP:0000445	Wide nose	-	OMIM:615465
2260	FGFR1	HP:0001742	Nasal congestion	-	OMIM:166250
2260	FGFR1	HP:0000411	Protruding ear	HP:0040282	ORPHA:2645
2260	FGFR1	HP:0000431	Wide nasal bridge	1/1	OMIM:190440
2260	FGFR1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:3366
2260	FGFR1	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
2260	FGFR1	HP:0005466	Hypoplasia of the frontal bone	-	OMIM:615465
2260	FGFR1	HP:0001840	Metatarsus adductus	-	OMIM:615777
2260	FGFR1	HP:0000520	Proptosis	2/4	OMIM:131300
2260	FGFR1	HP:0000520	Proptosis	HP:0040282	ORPHA:93258
2260	FGFR1	HP:0000520	Proptosis	1/5	OMIM:166250
2260	FGFR1	HP:0000520	Proptosis	7/7	OMIM:615777
2260	FGFR1	HP:0000520	Proptosis	1/6	OMIM:123150
2260	FGFR1	HP:0000506	Telecanthus	3/5	OMIM:166250
2260	FGFR1	HP:0000506	Telecanthus	HP:0040281	ORPHA:2117
2260	FGFR1	HP:0000508	Ptosis	HP:0040281	ORPHA:2117
2260	FGFR1	HP:0000508	Ptosis	HP:0040283	ORPHA:478
2260	FGFR1	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
2260	FGFR1	HP:0000505	Visual impairment	HP:0040281	ORPHA:3157
2260	FGFR1	HP:0001800	Hypoplastic toenails	-	OMIM:166250
2260	FGFR1	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:190440
2260	FGFR1	HP:0000592	Blue sclerae	2/7	OMIM:615777
2260	FGFR1	HP:0000586	Shallow orbits	-	OMIM:166250
2260	FGFR1	HP:0000586	Shallow orbits	-	OMIM:101600
2260	FGFR1	HP:0011219	Short face	HP:0040283	ORPHA:99798
2260	FGFR1	HP:0011220	Prominent forehead	1/6	OMIM:123150
2260	FGFR1	HP:0000568	Microphthalmia	HP:0040281	ORPHA:2117
2260	FGFR1	HP:0000568	Microphthalmia	-	OMIM:613001
2260	FGFR1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2260	FGFR1	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
2260	FGFR1	HP:0012514	Lower limb pain	4/4	OMIM:131300
2261	FGFR3	HP:0001172	Abnormal thumb morphology	0/3	OMIM:620192
2261	FGFR3	HP:0001172	Abnormal thumb morphology	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0001171	Split hand	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0001156	Brachydactyly	-	OMIM:146000
2261	FGFR3	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0001156	Brachydactyly	HP:0040282	ORPHA:794
2261	FGFR3	HP:0001156	Brachydactyly	HP:0040281	ORPHA:429
2261	FGFR3	HP:0001156	Brachydactyly	HP:0040282	ORPHA:15
2261	FGFR3	HP:0001156	Brachydactyly	11/48	OMIM:602849
2261	FGFR3	HP:0001156	Brachydactyly	HP:0040281	ORPHA:93274
2261	FGFR3	HP:0001156	Brachydactyly	HP:0040282	ORPHA:93262
2261	FGFR3	HP:0001156	Brachydactyly	-	OMIM:100800
2261	FGFR3	HP:0001156	Brachydactyly	HP:0040283	ORPHA:35099
2261	FGFR3	HP:0001156	Brachydactyly	-	OMIM:187601
2261	FGFR3	HP:0001166	Arachnodactyly	2/2	OMIM:610474
2261	FGFR3	HP:0001159	Syndactyly	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0003795	Short middle phalanx of toe	-	OMIM:602849
2261	FGFR3	HP:0009942	Duplication of thumb phalanx	2/2	OMIM:620192
2261	FGFR3	HP:0009942	Duplication of thumb phalanx	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0009926	Epiphora	HP:0040282	ORPHA:2363
2261	FGFR3	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:794
2261	FGFR3	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:35099
2261	FGFR3	HP:0010880	Increased nuchal translucency	HP:0040282	ORPHA:1860
2261	FGFR3	HP:0010880	Increased nuchal translucency	HP:0040282	ORPHA:93274
2261	FGFR3	HP:0009899	Prominent crus of helix	HP:0040282	ORPHA:794
2261	FGFR3	HP:0010864	Intellectual disability, severe	1/4	OMIM:616482
2261	FGFR3	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:85165
2261	FGFR3	HP:0008551	Microtia	5/5	OMIM:620192
2261	FGFR3	HP:0008551	Microtia	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0008551	Microtia	HP:0040282	ORPHA:794
2261	FGFR3	HP:0003745	Sporadic	-	OMIM:273300
2261	FGFR3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2261	FGFR3	HP:0001293	Cranial nerve compression	-	OMIM:131300
2261	FGFR3	HP:0001270	Motor delay	-	OMIM:100800
2261	FGFR3	HP:0001250	Seizure	HP:0040283	ORPHA:1860
2261	FGFR3	HP:0001250	Seizure	HP:0040283	ORPHA:794
2261	FGFR3	HP:0001250	Seizure	HP:0040282	ORPHA:93274
2261	FGFR3	HP:0001250	Seizure	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0001250	Seizure	1/4	OMIM:616482
2261	FGFR3	HP:0001250	Seizure	20/99	OMIM:602849
2261	FGFR3	HP:0001252	Hypotonia	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0001252	Hypotonia	HP:0040281	ORPHA:93274
2261	FGFR3	HP:0001252	Hypotonia	-	OMIM:187600
2261	FGFR3	HP:0001252	Hypotonia	2/7	OMIM:615777
2261	FGFR3	HP:0001249	Intellectual disability	HP:0040283	OMIM:146000
2261	FGFR3	HP:0001249	Intellectual disability	2/2	OMIM:616482
2261	FGFR3	HP:0001249	Intellectual disability	HP:0040283	ORPHA:35099
2261	FGFR3	HP:0001249	Intellectual disability	HP:0040283	ORPHA:429
2261	FGFR3	HP:0001249	Intellectual disability	31/87	OMIM:602849
2261	FGFR3	HP:0001249	Intellectual disability	11/12	OMIM:610474
2261	FGFR3	HP:0001249	Intellectual disability	5/7	OMIM:615777
2261	FGFR3	HP:0001263	Global developmental delay	HP:0040283	ORPHA:53271
2261	FGFR3	HP:0001263	Global developmental delay	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0001263	Global developmental delay	3/3	OMIM:616482
2261	FGFR3	HP:0001263	Global developmental delay	-	OMIM:187600
2261	FGFR3	HP:0001263	Global developmental delay	63/95	OMIM:602849
2261	FGFR3	HP:0001263	Global developmental delay	13/22	OMIM:610474
2261	FGFR3	HP:0001263	Global developmental delay	-	OMIM:615777
2261	FGFR3	HP:0001241	Capitate-hamate fusion	-	OMIM:602849
2261	FGFR3	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:794
2261	FGFR3	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0100864	Short femoral neck	1/2	OMIM:146000
2261	FGFR3	HP:0100864	Short femoral neck	-	OMIM:100800
2261	FGFR3	HP:0007392	Excessive wrinkled skin	HP:0040282	ORPHA:1860
2261	FGFR3	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:93262
2261	FGFR3	HP:0002515	Waddling gait	54/102	OMIM:131300
2261	FGFR3	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:794
2261	FGFR3	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:53271
2261	FGFR3	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:93262
2261	FGFR3	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:35099
2261	FGFR3	HP:0002512	Brain stem compression	-	OMIM:100800
2261	FGFR3	HP:0003811	Neonatal death	-	OMIM:187601
2261	FGFR3	HP:0003811	Neonatal death	-	OMIM:187600
2261	FGFR3	HP:0003811	Neonatal death	1/4	OMIM:616482
2261	FGFR3	HP:0000089	Renal hypoplasia	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0000098	Tall stature	12/12	OMIM:610474
2261	FGFR3	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:93274
2261	FGFR3	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:1860
2261	FGFR3	HP:0000076	Vesicoureteral reflux	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0001377	Limited elbow extension	-	OMIM:146000
2261	FGFR3	HP:0001377	Limited elbow extension	-	OMIM:100800
2261	FGFR3	HP:0001377	Limited elbow extension	HP:0040282	ORPHA:15
2261	FGFR3	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:93274
2261	FGFR3	HP:0001369	Arthritis	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1860
2261	FGFR3	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:429
2261	FGFR3	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:93274
2261	FGFR3	HP:0001382	Joint hypermobility	-	OMIM:615777
2261	FGFR3	HP:0001355	Megalencephaly	1/4	OMIM:616482
2261	FGFR3	HP:0001355	Megalencephaly	-	OMIM:100800
2261	FGFR3	HP:0000020	Urinary incontinence	1/4	OMIM:616482
2261	FGFR3	HP:0002676	Cloverleaf skull	5/5	OMIM:187601
2261	FGFR3	HP:0002676	Cloverleaf skull	-	OMIM:187600
2261	FGFR3	HP:0002676	Cloverleaf skull	0/86	OMIM:602849
2261	FGFR3	HP:0002676	Cloverleaf skull	HP:0040283	ORPHA:1860
2261	FGFR3	HP:0002676	Cloverleaf skull	HP:0040281	ORPHA:93274
2261	FGFR3	HP:0002677	Small foramen magnum	-	OMIM:187601
2261	FGFR3	HP:0002677	Small foramen magnum	-	OMIM:187600
2261	FGFR3	HP:0002677	Small foramen magnum	1/4	OMIM:616482
2261	FGFR3	HP:0002677	Small foramen magnum	1/1	OMIM:100800
2261	FGFR3	HP:0002697	Parietal foramina	HP:0040283	ORPHA:794
2261	FGFR3	HP:0001363	Craniosynostosis	0/2	OMIM:146000
2261	FGFR3	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:794
2261	FGFR3	HP:0001363	Craniosynostosis	-	OMIM:612247
2261	FGFR3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2261	FGFR3	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:93274
2261	FGFR3	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:794
2261	FGFR3	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:53271
2261	FGFR3	HP:0001357	Plagiocephaly	16/86	OMIM:602849
2261	FGFR3	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:794
2261	FGFR3	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0000027	Azoospermia	-	OMIM:273300
2261	FGFR3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2261	FGFR3	HP:0008873	Disproportionate short-limb short stature	1/1	OMIM:187600
2261	FGFR3	HP:0008873	Disproportionate short-limb short stature	2/2	OMIM:146000
2261	FGFR3	HP:0007517	Palmoplantar cutis laxa	1/4	OMIM:616482
2261	FGFR3	HP:0008839	Hypoplastic pelvis	1/1	OMIM:187600
2261	FGFR3	HP:0012081	Enlarged cerebellum	HP:0040281	ORPHA:85165
2261	FGFR3	HP:0006193	Thimble-shaped middle phalanges of hand	22/37	OMIM:602849
2261	FGFR3	HP:0002664	Neoplasm	-	OMIM:603956
2261	FGFR3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2261	FGFR3	HP:0001324	Muscle weakness	40/96	OMIM:131300
2261	FGFR3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2261	FGFR3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2261	FGFR3	HP:0000007	Autosomal recessive inheritance	-	OMIM:610474
2261	FGFR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:146000
2261	FGFR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:616482
2261	FGFR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:109800
2261	FGFR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:187601
2261	FGFR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:187600
2261	FGFR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
2261	FGFR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:100800
2261	FGFR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:620192
2261	FGFR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2261	FGFR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:602849
2261	FGFR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:610474
2261	FGFR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:612247
2261	FGFR3	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:93274
2261	FGFR3	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:429
2261	FGFR3	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0002650	Scoliosis	HP:0040283	ORPHA:794
2261	FGFR3	HP:0002650	Scoliosis	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0002650	Scoliosis	HP:0040283	ORPHA:429
2261	FGFR3	HP:0002650	Scoliosis	HP:0040281	ORPHA:85164
2261	FGFR3	HP:0002650	Scoliosis	12/12	OMIM:610474
2261	FGFR3	HP:0002650	Scoliosis	12/14	OMIM:131300
2261	FGFR3	HP:0001321	Cerebellar hypoplasia	1/5	OMIM:187601
2261	FGFR3	HP:0002643	Neonatal respiratory distress	1/1	OMIM:187600
2261	FGFR3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2261	FGFR3	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040282	ORPHA:429
2261	FGFR3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2261	FGFR3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2261	FGFR3	HP:0002607	Bowel incontinence	1/4	OMIM:616482
2261	FGFR3	HP:0008921	Neonatal short-limb short stature	-	OMIM:100800
2261	FGFR3	HP:0000189	Narrow palate	HP:0040282	ORPHA:794
2261	FGFR3	HP:0008905	Rhizomelia	HP:0040283	ORPHA:15
2261	FGFR3	HP:0008905	Rhizomelia	-	OMIM:616482
2261	FGFR3	HP:0008905	Rhizomelia	1/1	OMIM:100800
2261	FGFR3	HP:0008909	Lethal short-limbed short stature	-	OMIM:187601
2261	FGFR3	HP:0008909	Lethal short-limbed short stature	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0008909	Lethal short-limbed short stature	-	OMIM:187600
2261	FGFR3	HP:0000193	Bifid uvula	HP:0040283	ORPHA:794
2261	FGFR3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2261	FGFR3	HP:0000193	Bifid uvula	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:2363
2261	FGFR3	HP:0012155	Decreased corneal sensation	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0000175	Cleft palate	HP:0040283	ORPHA:794
2261	FGFR3	HP:0000175	Cleft palate	2/7	OMIM:615777
2261	FGFR3	HP:0000174	Abnormal palate morphology	HP:0040283	ORPHA:93262
2261	FGFR3	HP:0007678	Lacrimal duct stenosis	HP:0040282	ORPHA:794
2261	FGFR3	HP:0007656	Lacrimal gland aplasia	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0008947	Floppy infant	HP:0040282	ORPHA:15
2261	FGFR3	HP:0008947	Floppy infant	-	OMIM:100800
2261	FGFR3	HP:0002705	High, narrow palate	HP:0040282	ORPHA:53271
2261	FGFR3	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:794
2261	FGFR3	HP:0006254	Elevated circulating alpha-fetoprotein concentration	-	OMIM:273300
2261	FGFR3	HP:0002781	Upper airway obstruction	-	OMIM:100800
2261	FGFR3	HP:0012108	Open angle glaucoma	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0000131	Uterine leiomyoma	1/3	OMIM:616482
2261	FGFR3	HP:6000920	Craniocervical junction constriction	-	OMIM:100800
2261	FGFR3	HP:0000126	Hydronephrosis	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0002761	Generalized joint hypermobility	-	OMIM:100800
2261	FGFR3	HP:0002758	Osteoarthritis	HP:0040283	ORPHA:429
2261	FGFR3	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
2261	FGFR3	HP:0001442	Typified by somatic mosaicism	-	OMIM:109800
2261	FGFR3	HP:0001442	Typified by somatic mosaicism	-	OMIM:603956
2261	FGFR3	HP:0001442	Typified by somatic mosaicism	-	OMIM:273300
2261	FGFR3	HP:0001442	Typified by somatic mosaicism	20/20	OMIM:162900
2261	FGFR3	HP:0032569	Temporal bossing	-	OMIM:602849
2261	FGFR3	HP:0002020	Gastroesophageal reflux	1/3	OMIM:616482
2261	FGFR3	HP:0002015	Dysphagia	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0002007	Frontal bossing	-	OMIM:146000
2261	FGFR3	HP:0002007	Frontal bossing	HP:0040282	ORPHA:1860
2261	FGFR3	HP:0002007	Frontal bossing	1/4	OMIM:616482
2261	FGFR3	HP:0002007	Frontal bossing	HP:0040282	ORPHA:15
2261	FGFR3	HP:0002007	Frontal bossing	HP:0040282	ORPHA:93274
2261	FGFR3	HP:0002007	Frontal bossing	HP:0040281	ORPHA:93262
2261	FGFR3	HP:0002007	Frontal bossing	1/1	OMIM:100800
2261	FGFR3	HP:0002007	Frontal bossing	5/5	OMIM:187601
2261	FGFR3	HP:0002007	Frontal bossing	-	OMIM:187600
2261	FGFR3	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:794
2261	FGFR3	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:429
2261	FGFR3	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:93262
2261	FGFR3	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:794
2261	FGFR3	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:429
2261	FGFR3	HP:0011800	Midface retrusion	1/4	OMIM:616482
2261	FGFR3	HP:0011800	Midface retrusion	53/83	OMIM:602849
2261	FGFR3	HP:0011800	Midface retrusion	-	OMIM:100800
2261	FGFR3	HP:0011800	Midface retrusion	HP:0040283	ORPHA:35099
2261	FGFR3	HP:0011800	Midface retrusion	1/1	OMIM:187600
2261	FGFR3	HP:0011800	Midface retrusion	4/4	OMIM:612247
2261	FGFR3	HP:0100533	Inflammatory abnormality of the eye	HP:0040282	ORPHA:93262
2261	FGFR3	HP:0002089	Pulmonary hypoplasia	1/1	OMIM:187600
2261	FGFR3	HP:0002089	Pulmonary hypoplasia	1/1	OMIM:100800
2261	FGFR3	HP:0002084	Encephalocele	HP:0040283	ORPHA:93274
2261	FGFR3	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:93274
2261	FGFR3	HP:0002098	Respiratory distress	1/4	OMIM:616482
2261	FGFR3	HP:0002098	Respiratory distress	1/1	OMIM:100800
2261	FGFR3	HP:0030928	1-minute APGAR score of 1	1/1	OMIM:187600
2261	FGFR3	HP:0002092	Pulmonary arterial hypertension	1/3	OMIM:616482
2261	FGFR3	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:93274
2261	FGFR3	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:93262
2261	FGFR3	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0002093	Respiratory insufficiency	-	OMIM:187601
2261	FGFR3	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:15
2261	FGFR3	HP:0030921	5-minute APGAR score of 1	1/1	OMIM:187600
2261	FGFR3	HP:0002079	Hypoplasia of the corpus callosum	3/3	OMIM:616482
2261	FGFR3	HP:0002079	Hypoplasia of the corpus callosum	HP:0040281	ORPHA:85165
2261	FGFR3	HP:0002076	Migraine	HP:0040283	ORPHA:794
2261	FGFR3	HP:0002076	Migraine	HP:0040283	ORPHA:93262
2261	FGFR3	HP:0003375	Narrow greater sciatic notch	1/1	OMIM:100800
2261	FGFR3	HP:0003375	Narrow greater sciatic notch	HP:0040283	ORPHA:15
2261	FGFR3	HP:0003388	Easy fatigability	36/76	OMIM:131300
2261	FGFR3	HP:0009466	Radial deviation of finger	-	OMIM:602849
2261	FGFR3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2261	FGFR3	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:93262
2261	FGFR3	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:1860
2261	FGFR3	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:93274
2261	FGFR3	HP:0002119	Ventriculomegaly	1/5	OMIM:187601
2261	FGFR3	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:429
2261	FGFR3	HP:0003416	Spinal canal stenosis	HP:0040282	ORPHA:15
2261	FGFR3	HP:0010609	Skin tags	1/4	OMIM:616482
2261	FGFR3	HP:0002187	Intellectual disability, profound	-	OMIM:187600
2261	FGFR3	HP:0002187	Intellectual disability, profound	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0002187	Intellectual disability, profound	1/4	OMIM:616482
2261	FGFR3	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:85165
2261	FGFR3	HP:0003498	Disproportionate short stature	-	OMIM:616482
2261	FGFR3	HP:0003498	Disproportionate short stature	HP:0040281	ORPHA:15
2261	FGFR3	HP:0002164	Nail dysplasia	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:85164
2261	FGFR3	HP:0100491	Abnormality of lower limb joint	HP:0040281	ORPHA:85164
2261	FGFR3	HP:0011867	Abnormal iliac wing morphology	HP:0040283	ORPHA:15
2261	FGFR3	HP:0010536	Central sleep apnea	HP:0040282	ORPHA:15
2261	FGFR3	HP:0010535	Sleep apnea	HP:0040283	ORPHA:794
2261	FGFR3	HP:0010535	Sleep apnea	HP:0040283	ORPHA:429
2261	FGFR3	HP:0010502	Fibular bowing	HP:0040282	ORPHA:85165
2261	FGFR3	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:53271
2261	FGFR3	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:93274
2261	FGFR3	HP:0003577	Congenital onset	1/1	OMIM:187600
2261	FGFR3	HP:0003577	Congenital onset	4/4	OMIM:616482
2261	FGFR3	HP:0003577	Congenital onset	1/1	OMIM:100800
2261	FGFR3	HP:0009738	Abnormal antihelix morphology	HP:0040282	ORPHA:794
2261	FGFR3	HP:0010720	Abnormal hair pattern	HP:0040283	ORPHA:794
2261	FGFR3	HP:0100768	Choriocarcinoma	-	OMIM:273300
2261	FGFR3	HP:0008414	Lumbar kyphosis in infancy	-	OMIM:100800
2261	FGFR3	HP:0100781	Abnormal sacroiliac joint morphology	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0100777	Exostoses	1/3	OMIM:616482
2261	FGFR3	HP:0009725	Bladder neoplasm	-	OMIM:109800
2261	FGFR3	HP:0009702	Carpal synostosis	HP:0040282	ORPHA:53271
2261	FGFR3	HP:0009701	Metacarpal synostosis	HP:0040283	ORPHA:35099
2261	FGFR3	HP:0002282	Gray matter heterotopia	-	OMIM:187600
2261	FGFR3	HP:0002282	Gray matter heterotopia	HP:0040283	ORPHA:1860
2261	FGFR3	HP:0008368	Tarsal synostosis	HP:0040282	ORPHA:53271
2261	FGFR3	HP:0007018	Attention deficit hyperactivity disorder	14/59	OMIM:602849
2261	FGFR3	HP:0011968	Feeding difficulties	1/1	OMIM:100800
2261	FGFR3	HP:0003510	Severe short stature	7/7	OMIM:615777
2261	FGFR3	HP:0003510	Severe short stature	4/4	OMIM:616482
2261	FGFR3	HP:0002384	Focal impaired awareness seizure	1/3	OMIM:616482
2261	FGFR3	HP:0001054	Numerous nevi	-	OMIM:162900
2261	FGFR3	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:53271
2261	FGFR3	HP:0001034	Hypermelanotic macule	HP:0040283	ORPHA:53271
2261	FGFR3	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:794
2261	FGFR3	HP:0002315	Headache	-	OMIM:131300
2261	FGFR3	HP:0002315	Headache	HP:0040283	ORPHA:794
2261	FGFR3	HP:0004976	Knee dislocation	6/7	OMIM:615777
2261	FGFR3	HP:0009826	Limb undergrowth	HP:0040281	ORPHA:15
2261	FGFR3	HP:0009815	Aplasia/hypoplasia of the extremities	-	OMIM:146000
2261	FGFR3	HP:0001096	Keratoconjunctivitis	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0010807	Open bite	HP:0040282	ORPHA:794
2261	FGFR3	HP:0001097	Keratoconjunctivitis sicca	HP:0040282	ORPHA:2363
2261	FGFR3	HP:0001092	Absent lacrimal punctum	2/2	OMIM:620192
2261	FGFR3	HP:0001092	Absent lacrimal punctum	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0009811	Abnormality of the elbow	HP:0040282	ORPHA:429
2261	FGFR3	HP:0009803	Short phalanx of finger	-	OMIM:615777
2261	FGFR3	HP:0009792	Teratoma	-	OMIM:273300
2261	FGFR3	HP:0008450	Narrow vertebral interpedicular distance	1/1	OMIM:100800
2261	FGFR3	HP:0009777	Absent thumb	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0008445	Cervical spinal canal stenosis	HP:0040282	ORPHA:15
2261	FGFR3	HP:0009778	Short thumb	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0009763	Limb pain	63/92	OMIM:131300
2261	FGFR3	HP:0002308	Chiari malformation	HP:0040282	ORPHA:93262
2261	FGFR3	HP:0003621	Juvenile onset	1/1	OMIM:146000
2261	FGFR3	HP:0003621	Juvenile onset	-	OMIM:131300
2261	FGFR3	HP:0032107	Limbal stem cell deficiency	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2261	FGFR3	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:794
2261	FGFR3	HP:0010084	Duplication of the distal phalanx of the hallux	HP:0040283	ORPHA:794
2261	FGFR3	HP:0005599	Hypopigmentation of hair	HP:0040283	ORPHA:53271
2261	FGFR3	HP:0004279	Short palm	HP:0040282	ORPHA:53271
2261	FGFR3	HP:0005584	Renal cell carcinoma	-	OMIM:114500
2261	FGFR3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2261	FGFR3	HP:6001056	Out-toeing	-	OMIM:131300
2261	FGFR3	HP:0000651	Diplopia	-	OMIM:131300
2261	FGFR3	HP:0000646	Amblyopia	HP:0040283	ORPHA:794
2261	FGFR3	HP:0000646	Amblyopia	20/135	OMIM:602849
2261	FGFR3	HP:0000648	Optic atrophy	HP:0040283	ORPHA:794
2261	FGFR3	HP:0000648	Optic atrophy	HP:0040283	ORPHA:93262
2261	FGFR3	HP:0000643	Blepharospasm	HP:0040282	ORPHA:794
2261	FGFR3	HP:0001956	Truncal obesity	2/7	OMIM:615777
2261	FGFR3	HP:0000601	Hypotelorism	HP:0040283	ORPHA:794
2261	FGFR3	HP:0001903	Anemia	HP:0040283	OMIM:131300
2261	FGFR3	HP:0010049	Short metacarpal	-	OMIM:615777
2261	FGFR3	HP:0011386	Narrow internal auditory canal	HP:0040282	ORPHA:794
2261	FGFR3	HP:0010055	Broad hallux	45/104	OMIM:602849
2261	FGFR3	HP:0000698	Conical tooth	3/3	OMIM:620192
2261	FGFR3	HP:0012679	Widened interpedicular distance	2/2	OMIM:146000
2261	FGFR3	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:85165
2261	FGFR3	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:2363
2261	FGFR3	HP:0000678	Dental crowding	-	OMIM:615777
2261	FGFR3	HP:0000691	Microdontia	4/5	OMIM:620192
2261	FGFR3	HP:0000691	Microdontia	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0000689	Dental malocclusion	-	OMIM:602849
2261	FGFR3	HP:0000670	Carious teeth	-	OMIM:131300
2261	FGFR3	HP:0000670	Carious teeth	3/3	OMIM:620192
2261	FGFR3	HP:0000670	Carious teeth	HP:0040282	ORPHA:2363
2261	FGFR3	HP:0011304	Broad thumb	HP:0040283	ORPHA:794
2261	FGFR3	HP:0011304	Broad thumb	2/7	OMIM:615777
2261	FGFR3	HP:0011304	Broad thumb	14/46	OMIM:602849
2261	FGFR3	HP:0000668	Hypodontia	-	OMIM:615777
2261	FGFR3	HP:0000668	Hypodontia	4/5	OMIM:620192
2261	FGFR3	HP:0000668	Hypodontia	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0000664	Synophrys	-	OMIM:615777
2261	FGFR3	HP:0004322	Short stature	HP:0040283	ORPHA:794
2261	FGFR3	HP:0004322	Short stature	HP:0040281	ORPHA:93274
2261	FGFR3	HP:0004322	Short stature	0/34	OMIM:602849
2261	FGFR3	HP:0005619	Thoracolumbar kyphosis	HP:0040281	ORPHA:15
2261	FGFR3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:794
2261	FGFR3	HP:0004396	Poor appetite	-	OMIM:131300
2261	FGFR3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2261	FGFR3	HP:0003031	Ulnar bowing	1/1	OMIM:100800
2261	FGFR3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2261	FGFR3	HP:0034199	Late first trimester onset	1/5	OMIM:187601
2261	FGFR3	HP:0034198	Second trimester onset	4/5	OMIM:187601
2261	FGFR3	HP:0003015	Flared metaphysis	-	OMIM:187601
2261	FGFR3	HP:0003015	Flared metaphysis	-	OMIM:187600
2261	FGFR3	HP:0003015	Flared metaphysis	-	OMIM:146000
2261	FGFR3	HP:0003015	Flared metaphysis	1/1	OMIM:100800
2261	FGFR3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2261	FGFR3	HP:0003026	Short long bone	1/1	OMIM:187600
2261	FGFR3	HP:0003026	Short long bone	2/2	OMIM:146000
2261	FGFR3	HP:0003026	Short long bone	7/7	OMIM:615777
2261	FGFR3	HP:0003026	Short long bone	HP:0040282	ORPHA:15
2261	FGFR3	HP:0003027	Mesomelia	1/4	OMIM:616482
2261	FGFR3	HP:0003025	Metaphyseal irregularity	-	OMIM:187601
2261	FGFR3	HP:0003025	Metaphyseal irregularity	-	OMIM:187600
2261	FGFR3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2261	FGFR3	HP:0011405	Childhood onset short-limb short stature	HP:0040281	ORPHA:429
2261	FGFR3	HP:0000767	Pectus excavatum	-	OMIM:610474
2261	FGFR3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2261	FGFR3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2261	FGFR3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2261	FGFR3	HP:0000750	Delayed speech and language development	-	OMIM:615777
2261	FGFR3	HP:0011487	Increased corneal thickness	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0011496	Corneal neovascularization	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0011482	Abnormal lacrimal gland morphology	HP:0040282	ORPHA:2363
2261	FGFR3	HP:0011481	Abnormal lacrimal duct morphology	HP:0040282	ORPHA:2363
2261	FGFR3	HP:0011461	Fetal onset	7/7	OMIM:615777
2261	FGFR3	HP:0011452	Functional abnormality of the middle ear	HP:0040282	ORPHA:15
2261	FGFR3	HP:0000774	Narrow chest	HP:0040281	ORPHA:93274
2261	FGFR3	HP:0000774	Narrow chest	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0000774	Narrow chest	1/4	OMIM:616482
2261	FGFR3	HP:0000774	Narrow chest	5/5	OMIM:187601
2261	FGFR3	HP:0000774	Narrow chest	-	OMIM:187600
2261	FGFR3	HP:0000774	Narrow chest	2/7	OMIM:615777
2261	FGFR3	HP:0000773	Short ribs	5/5	OMIM:187601
2261	FGFR3	HP:0000773	Short ribs	-	OMIM:187600
2261	FGFR3	HP:0000773	Short ribs	1/1	OMIM:100800
2261	FGFR3	HP:0009118	Aplasia/Hypoplasia of the mandible	HP:0040281	ORPHA:85165
2261	FGFR3	HP:0004440	Coronal craniosynostosis	HP:0040281	ORPHA:794
2261	FGFR3	HP:0004440	Coronal craniosynostosis	HP:0040282	ORPHA:53271
2261	FGFR3	HP:0004440	Coronal craniosynostosis	33/49	OMIM:602849
2261	FGFR3	HP:0005733	Spinal stenosis with reduced interpedicular distance	-	OMIM:100800
2261	FGFR3	HP:0003194	Short nasal bridge	HP:0040282	ORPHA:15
2261	FGFR3	HP:0000910	Wide-cupped costochondral junctions	-	OMIM:187601
2261	FGFR3	HP:0000910	Wide-cupped costochondral junctions	-	OMIM:187600
2261	FGFR3	HP:0000929	Abnormal skull morphology	HP:0040281	ORPHA:794
2261	FGFR3	HP:0000926	Platyspondyly	HP:0040281	ORPHA:93274
2261	FGFR3	HP:0000926	Platyspondyly	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0000926	Platyspondyly	-	OMIM:616482
2261	FGFR3	HP:0000926	Platyspondyly	5/5	OMIM:187601
2261	FGFR3	HP:0000926	Platyspondyly	1/1	OMIM:187600
2261	FGFR3	HP:0000926	Platyspondyly	1/7	OMIM:615777
2261	FGFR3	HP:0003185	Short greater sciatic notch	-	OMIM:187601
2261	FGFR3	HP:0003185	Short greater sciatic notch	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0003185	Short greater sciatic notch	-	OMIM:187600
2261	FGFR3	HP:0003180	Flat acetabular roof	-	OMIM:615777
2261	FGFR3	HP:0003180	Flat acetabular roof	HP:0040283	ORPHA:15
2261	FGFR3	HP:0004482	Relative macrocephaly	-	OMIM:615777
2261	FGFR3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2261	FGFR3	HP:0000889	Abnormal clavicle morphology	HP:0040282	ORPHA:85165
2261	FGFR3	HP:0000858	Irregular menstruation	1/4	OMIM:616482
2261	FGFR3	HP:0034222	Temporal lobe dysplasia	1/5	OMIM:187601
2261	FGFR3	HP:0034222	Temporal lobe dysplasia	6/20	OMIM:187600
2261	FGFR3	HP:0034226	Champagne cork sign	1/1	OMIM:187600
2261	FGFR3	HP:0012804	Corneal ulceration	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0003097	Short femur	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0003097	Short femur	1/1	OMIM:100800
2261	FGFR3	HP:0003093	Limited hip extension	-	OMIM:100800
2261	FGFR3	HP:0000813	Bicornuate uterus	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0000823	Delayed puberty	-	OMIM:131300
2261	FGFR3	HP:0010286	Abnormal salivary gland morphology	HP:0040282	ORPHA:2363
2261	FGFR3	HP:0010241	Short proximal phalanx of finger	HP:0040282	ORPHA:15
2261	FGFR3	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	8/25	OMIM:602849
2261	FGFR3	HP:0000894	Short clavicles	-	OMIM:615777
2261	FGFR3	HP:0004565	Severe platyspondyly	-	OMIM:187600
2261	FGFR3	HP:0004565	Severe platyspondyly	1/1	OMIM:100800
2261	FGFR3	HP:0004570	Increased vertebral height	-	OMIM:610474
2261	FGFR3	HP:0005871	Metaphyseal chondrodysplasia	HP:0040281	ORPHA:85165
2261	FGFR3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2261	FGFR3	HP:0045087	Hip joint hypermobility	HP:0040282	ORPHA:15
2261	FGFR3	HP:0045086	Knee joint hypermobility	HP:0040282	ORPHA:15
2261	FGFR3	HP:0000995	Melanocytic nevus	-	OMIM:612247
2261	FGFR3	HP:0000995	Melanocytic nevus	-	OMIM:162900
2261	FGFR3	HP:0010306	Short thorax	HP:0040281	ORPHA:93274
2261	FGFR3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2261	FGFR3	HP:0000956	Acanthosis nigricans	3/4	OMIM:616482
2261	FGFR3	HP:0000956	Acanthosis nigricans	4/4	OMIM:612247
2261	FGFR3	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:93274
2261	FGFR3	HP:0000956	Acanthosis nigricans	HP:0040281	ORPHA:93262
2261	FGFR3	HP:0000956	Acanthosis nigricans	HP:0040283	OMIM:146000
2261	FGFR3	HP:0000956	Acanthosis nigricans	HP:0040281	ORPHA:85165
2261	FGFR3	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:1860
2261	FGFR3	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:15
2261	FGFR3	HP:0000946	Hypoplastic ilia	-	OMIM:187601
2261	FGFR3	HP:0000946	Hypoplastic ilia	-	OMIM:187600
2261	FGFR3	HP:0000946	Hypoplastic ilia	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:93274
2261	FGFR3	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:429
2261	FGFR3	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0005819	Short middle phalanx of finger	HP:0040282	ORPHA:15
2261	FGFR3	HP:0005819	Short middle phalanx of finger	-	OMIM:602849
2261	FGFR3	HP:0000286	Epicanthus	HP:0040283	ORPHA:794
2261	FGFR3	HP:0000286	Epicanthus	1/7	OMIM:615777
2261	FGFR3	HP:0000280	Coarse facial features	2/7	OMIM:615777
2261	FGFR3	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:794
2261	FGFR3	HP:0000294	Low anterior hairline	-	OMIM:602849
2261	FGFR3	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:1860
2261	FGFR3	HP:0000260	Wide anterior fontanel	HP:0040283	ORPHA:15
2261	FGFR3	HP:0000260	Wide anterior fontanel	2/4	OMIM:616482
2261	FGFR3	HP:0000262	Turricephaly	HP:0040282	ORPHA:93262
2261	FGFR3	HP:0000256	Macrocephaly	HP:0040283	ORPHA:53271
2261	FGFR3	HP:0000256	Macrocephaly	1/2	OMIM:146000
2261	FGFR3	HP:0000256	Macrocephaly	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0000256	Macrocephaly	2/4	OMIM:616482
2261	FGFR3	HP:0000256	Macrocephaly	HP:0040283	ORPHA:429
2261	FGFR3	HP:0000256	Macrocephaly	HP:0040282	ORPHA:15
2261	FGFR3	HP:0000256	Macrocephaly	19/86	OMIM:602849
2261	FGFR3	HP:0000256	Macrocephaly	HP:0040281	ORPHA:93274
2261	FGFR3	HP:0000256	Macrocephaly	1/1	OMIM:100800
2261	FGFR3	HP:0000256	Macrocephaly	1/1	OMIM:187600
2261	FGFR3	HP:0000274	Small face	-	OMIM:187601
2261	FGFR3	HP:0000274	Small face	-	OMIM:187600
2261	FGFR3	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:794
2261	FGFR3	HP:0000272	Malar flattening	HP:0040282	ORPHA:53271
2261	FGFR3	HP:0000272	Malar flattening	HP:0040282	ORPHA:93262
2261	FGFR3	HP:0000272	Malar flattening	-	OMIM:146000
2261	FGFR3	HP:0000272	Malar flattening	-	OMIM:100800
2261	FGFR3	HP:0000272	Malar flattening	-	OMIM:602849
2261	FGFR3	HP:0005107	Abnormal sacrum morphology	HP:0040283	ORPHA:93262
2261	FGFR3	HP:0006417	Wide femoral metaphysis	-	OMIM:610474
2261	FGFR3	HP:0002827	Hip dislocation	3/7	OMIM:615777
2261	FGFR3	HP:0002823	Abnormal femur morphology	HP:0040282	ORPHA:429
2261	FGFR3	HP:0030079	Cervix cancer	-	OMIM:603956
2261	FGFR3	HP:0030084	Clinodactyly	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0030084	Clinodactyly	10/47	OMIM:602849
2261	FGFR3	HP:0002808	Kyphosis	HP:0040282	ORPHA:1860
2261	FGFR3	HP:0002808	Kyphosis	-	OMIM:616482
2261	FGFR3	HP:0002808	Kyphosis	HP:0040281	ORPHA:15
2261	FGFR3	HP:0002808	Kyphosis	HP:0040282	ORPHA:93274
2261	FGFR3	HP:0005037	Proximal radio-ulnar synostosis	HP:0040283	ORPHA:794
2261	FGFR3	HP:0000242	Parietal bossing	HP:0040282	ORPHA:15
2261	FGFR3	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:53271
2261	FGFR3	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:1860
2261	FGFR3	HP:0000238	Hydrocephalus	3/4	OMIM:616482
2261	FGFR3	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:15
2261	FGFR3	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93274
2261	FGFR3	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:93262
2261	FGFR3	HP:0000238	Hydrocephalus	1/1	OMIM:100800
2261	FGFR3	HP:0000238	Hydrocephalus	-	OMIM:187600
2261	FGFR3	HP:0000238	Hydrocephalus	3/4	OMIM:612247
2261	FGFR3	HP:0002898	Embryonal neoplasm	-	OMIM:273300
2261	FGFR3	HP:0000252	Microcephaly	HP:0040282	ORPHA:85165
2261	FGFR3	HP:0000252	Microcephaly	-	OMIM:610474
2261	FGFR3	HP:0000252	Microcephaly	-	OMIM:615777
2261	FGFR3	HP:0001582	Redundant skin	1/4	OMIM:616482
2261	FGFR3	HP:0001582	Redundant skin	HP:0040281	ORPHA:93274
2261	FGFR3	HP:0001582	Redundant skin	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0000248	Brachycephaly	HP:0040282	ORPHA:53271
2261	FGFR3	HP:0000248	Brachycephaly	HP:0040282	ORPHA:93262
2261	FGFR3	HP:0000248	Brachycephaly	HP:0040281	ORPHA:35099
2261	FGFR3	HP:0000248	Brachycephaly	HP:0040282	ORPHA:794
2261	FGFR3	HP:0000248	Brachycephaly	-	OMIM:612247
2261	FGFR3	HP:0000248	Brachycephaly	47/86	OMIM:602849
2261	FGFR3	HP:0000217	Xerostomia	HP:0040282	ORPHA:2363
2261	FGFR3	HP:0002878	Respiratory failure	1/4	OMIM:616482
2261	FGFR3	HP:0000218	High palate	64/133	OMIM:602849
2261	FGFR3	HP:0000218	High palate	2/2	OMIM:610474
2261	FGFR3	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:93274
2261	FGFR3	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:1860
2261	FGFR3	HP:0001561	Polyhydramnios	1/1	OMIM:100800
2261	FGFR3	HP:0001561	Polyhydramnios	-	OMIM:187601
2261	FGFR3	HP:0001561	Polyhydramnios	1/1	OMIM:187600
2261	FGFR3	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
2261	FGFR3	HP:0001558	Decreased fetal movement	-	OMIM:187601
2261	FGFR3	HP:0001558	Decreased fetal movement	-	OMIM:187600
2261	FGFR3	HP:0002857	Genu valgum	-	OMIM:131300
2261	FGFR3	HP:0001522	Death in infancy	1/1	OMIM:100800
2261	FGFR3	HP:0002870	Obstructive sleep apnea	HP:0040282	ORPHA:15
2261	FGFR3	HP:0002871	Central apnea	1/3	OMIM:616482
2261	FGFR3	HP:0001538	Protuberant abdomen	1/1	OMIM:187600
2261	FGFR3	HP:0000202	Orofacial cleft	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0001533	Slender build	-	OMIM:131300
2261	FGFR3	HP:0030049	Brain abscess	1/4	OMIM:616482
2261	FGFR3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2261	FGFR3	HP:0001513	Obesity	HP:0040283	ORPHA:15
2261	FGFR3	HP:0007807	Optic nerve compression	-	OMIM:131300
2261	FGFR3	HP:0012385	Camptodactyly	20/22	OMIM:610474
2261	FGFR3	HP:0012368	Flat face	HP:0040281	ORPHA:93274
2261	FGFR3	HP:0012368	Flat face	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0012368	Flat face	7/7	OMIM:615777
2261	FGFR3	HP:0000378	Cupped ear	5/5	OMIM:620192
2261	FGFR3	HP:0000378	Cupped ear	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:794
2261	FGFR3	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:2363
2261	FGFR3	HP:0005257	Thoracic hypoplasia	1/1	OMIM:187600
2261	FGFR3	HP:0005257	Thoracic hypoplasia	1/1	OMIM:100800
2261	FGFR3	HP:0005257	Thoracic hypoplasia	HP:0040283	ORPHA:15
2261	FGFR3	HP:0006584	Small abnormally formed scapulae	-	OMIM:187601
2261	FGFR3	HP:0006584	Small abnormally formed scapulae	-	OMIM:187600
2261	FGFR3	HP:0007892	Hypoplasia of the lacrimal punctum	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0002938	Lumbar hyperlordosis	1/2	OMIM:146000
2261	FGFR3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2261	FGFR3	HP:0002938	Lumbar hyperlordosis	HP:0040282	ORPHA:15
2261	FGFR3	HP:0002938	Lumbar hyperlordosis	-	OMIM:616482
2261	FGFR3	HP:0002938	Lumbar hyperlordosis	-	OMIM:100800
2261	FGFR3	HP:0006487	Bowing of the long bones	-	OMIM:187600
2261	FGFR3	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:429
2261	FGFR3	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0000365	Hearing impairment	HP:0040282	ORPHA:1860
2261	FGFR3	HP:0000365	Hearing impairment	HP:0040283	ORPHA:794
2261	FGFR3	HP:0000365	Hearing impairment	HP:0040282	ORPHA:15
2261	FGFR3	HP:0000365	Hearing impairment	HP:0040282	ORPHA:93274
2261	FGFR3	HP:0000365	Hearing impairment	3/3	OMIM:620192
2261	FGFR3	HP:0000365	Hearing impairment	1/3	OMIM:616482
2261	FGFR3	HP:0000365	Hearing impairment	HP:0040281	ORPHA:85164
2261	FGFR3	HP:0000365	Hearing impairment	69/89	OMIM:602849
2261	FGFR3	HP:0000365	Hearing impairment	2/2	OMIM:610474
2261	FGFR3	HP:0000365	Hearing impairment	10/67	OMIM:131300
2261	FGFR3	HP:0000365	Hearing impairment	HP:0040282	ORPHA:35099
2261	FGFR3	HP:0011003	High myopia	1/4	OMIM:616482
2261	FGFR3	HP:0000369	Low-set ears	HP:0040283	ORPHA:794
2261	FGFR3	HP:0000369	Low-set ears	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0000343	Long philtrum	1/7	OMIM:615777
2261	FGFR3	HP:0011001	Increased bone mineral density	-	OMIM:131300
2261	FGFR3	HP:0000337	Broad forehead	HP:0040281	ORPHA:35099
2261	FGFR3	HP:0000348	High forehead	HP:0040281	ORPHA:93262
2261	FGFR3	HP:0000348	High forehead	HP:0040281	ORPHA:794
2261	FGFR3	HP:0000347	Micrognathia	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0002982	Tibial bowing	2/4	OMIM:616482
2261	FGFR3	HP:0002982	Tibial bowing	HP:0040282	ORPHA:85165
2261	FGFR3	HP:0002983	Micromelia	5/5	OMIM:187601
2261	FGFR3	HP:0002983	Micromelia	HP:0040281	ORPHA:93274
2261	FGFR3	HP:0002983	Micromelia	HP:0040281	ORPHA:429
2261	FGFR3	HP:0002983	Micromelia	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0002980	Femoral bowing	1/1	OMIM:187600
2261	FGFR3	HP:0002980	Femoral bowing	2/4	OMIM:616482
2261	FGFR3	HP:0002980	Femoral bowing	HP:0040282	ORPHA:85165
2261	FGFR3	HP:0002980	Femoral bowing	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0002980	Femoral bowing	1/1	OMIM:100800
2261	FGFR3	HP:0002979	Bowing of the legs	1/1	OMIM:100800
2261	FGFR3	HP:0002979	Bowing of the legs	HP:0040281	ORPHA:15
2261	FGFR3	HP:0000316	Hypertelorism	HP:0040282	ORPHA:53271
2261	FGFR3	HP:0000316	Hypertelorism	HP:0040282	ORPHA:794
2261	FGFR3	HP:0000316	Hypertelorism	HP:0040282	ORPHA:93262
2261	FGFR3	HP:0000316	Hypertelorism	39/82	OMIM:602849
2261	FGFR3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:35099
2261	FGFR3	HP:0000316	Hypertelorism	-	OMIM:612247
2261	FGFR3	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1860
2261	FGFR3	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:93274
2261	FGFR3	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0000311	Round face	2/7	OMIM:615777
2261	FGFR3	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:794
2261	FGFR3	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:794
2261	FGFR3	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:93262
2261	FGFR3	HP:0002986	Radial bowing	1/1	OMIM:100800
2261	FGFR3	HP:0002984	Hypoplasia of the radius	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0000324	Facial asymmetry	HP:0040281	ORPHA:794
2261	FGFR3	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:794
2261	FGFR3	HP:0001623	Breech presentation	1/1	OMIM:187600
2261	FGFR3	HP:0001623	Breech presentation	4/4	OMIM:616482
2261	FGFR3	HP:0002970	Genu varum	HP:0040282	ORPHA:429
2261	FGFR3	HP:0002970	Genu varum	-	OMIM:146000
2261	FGFR3	HP:0002970	Genu varum	-	OMIM:100800
2261	FGFR3	HP:0002970	Genu varum	-	OMIM:615777
2261	FGFR3	HP:0000309	Abnormal midface morphology	HP:0040282	ORPHA:15
2261	FGFR3	HP:0001635	Congestive heart failure	1/3	OMIM:616482
2261	FGFR3	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1860
2261	FGFR3	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:93274
2261	FGFR3	HP:0000303	Mandibular prognathia	-	OMIM:131300
2261	FGFR3	HP:0007925	Lacrimal duct aplasia	2/2	OMIM:620192
2261	FGFR3	HP:0007925	Lacrimal duct aplasia	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0005349	Hypoplasia of the epiglottis	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:53271
2261	FGFR3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:794
2261	FGFR3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0000407	Sensorineural hearing impairment	17/46	OMIM:602849
2261	FGFR3	HP:0000407	Sensorineural hearing impairment	17/20	OMIM:610474
2261	FGFR3	HP:0000403	Recurrent otitis media	1/4	OMIM:616482
2261	FGFR3	HP:0000403	Recurrent otitis media	-	OMIM:100800
2261	FGFR3	HP:0000403	Recurrent otitis media	34/55	OMIM:602849
2261	FGFR3	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:93262
2261	FGFR3	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0000405	Conductive hearing impairment	-	OMIM:100800
2261	FGFR3	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:794
2261	FGFR3	HP:0005280	Depressed nasal bridge	2/2	OMIM:146000
2261	FGFR3	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:1860
2261	FGFR3	HP:0005280	Depressed nasal bridge	1/4	OMIM:616482
2261	FGFR3	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:794
2261	FGFR3	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:15
2261	FGFR3	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:93274
2261	FGFR3	HP:0005280	Depressed nasal bridge	1/1	OMIM:100800
2261	FGFR3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2261	FGFR3	HP:0000486	Strabismus	HP:0040282	ORPHA:794
2261	FGFR3	HP:0000486	Strabismus	HP:0040282	ORPHA:93262
2261	FGFR3	HP:0000486	Strabismus	31/69	OMIM:602849
2261	FGFR3	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:2363
2261	FGFR3	HP:0000495	Recurrent corneal erosions	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0000494	Downslanted palpebral fissures	17/34	OMIM:602849
2261	FGFR3	HP:0000463	Anteverted nares	HP:0040282	ORPHA:15
2261	FGFR3	HP:0012444	Brain atrophy	HP:0040281	ORPHA:85165
2261	FGFR3	HP:0000458	Anosmia	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0001788	Premature rupture of membranes	1/1	OMIM:100800
2261	FGFR3	HP:0000470	Short neck	1/1	OMIM:187600
2261	FGFR3	HP:0000470	Short neck	1/7	OMIM:615777
2261	FGFR3	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0001773	Short foot	HP:0040282	ORPHA:53271
2261	FGFR3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2261	FGFR3	HP:0001763	Pes planus	1/7	OMIM:615777
2261	FGFR3	HP:0000453	Choanal atresia	-	OMIM:612247
2261	FGFR3	HP:0000453	Choanal atresia	HP:0040282	ORPHA:93262
2261	FGFR3	HP:0000453	Choanal atresia	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0000452	Choanal stenosis	1/1	OMIM:100800
2261	FGFR3	HP:0012418	Hypoxemia	HP:0040283	ORPHA:15
2261	FGFR3	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:794
2261	FGFR3	HP:0000444	Convex nasal ridge	HP:0040283	ORPHA:93262
2261	FGFR3	HP:0000410	Mixed hearing impairment	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:794
2261	FGFR3	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
2261	FGFR3	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
2261	FGFR3	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:109800
2261	FGFR3	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
2261	FGFR3	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040282	ORPHA:1860
2261	FGFR3	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040281	ORPHA:93274
2261	FGFR3	HP:0011297	Abnormal digit morphology	HP:0040282	ORPHA:2363
2261	FGFR3	HP:0030431	Osteochondroma	-	OMIM:610474
2261	FGFR3	HP:0001840	Metatarsus adductus	-	OMIM:615777
2261	FGFR3	HP:0000520	Proptosis	HP:0040282	ORPHA:53271
2261	FGFR3	HP:0000520	Proptosis	HP:0040282	ORPHA:93274
2261	FGFR3	HP:0000520	Proptosis	HP:0040282	ORPHA:93262
2261	FGFR3	HP:0000520	Proptosis	2/4	OMIM:131300
2261	FGFR3	HP:0000520	Proptosis	HP:0040282	ORPHA:1860
2261	FGFR3	HP:0000520	Proptosis	HP:0040282	ORPHA:35099
2261	FGFR3	HP:0000520	Proptosis	4/4	OMIM:612247
2261	FGFR3	HP:0000520	Proptosis	7/7	OMIM:615777
2261	FGFR3	HP:0000520	Proptosis	5/81	OMIM:602849
2261	FGFR3	HP:0000522	Alacrima	3/3	OMIM:620192
2261	FGFR3	HP:0001822	Hallux valgus	HP:0040283	ORPHA:794
2261	FGFR3	HP:0001837	Broad toe	HP:0040283	ORPHA:794
2261	FGFR3	HP:0000509	Conjunctivitis	5/5	OMIM:620192
2261	FGFR3	HP:0000508	Ptosis	HP:0040282	ORPHA:53271
2261	FGFR3	HP:0000508	Ptosis	HP:0040282	ORPHA:794
2261	FGFR3	HP:0000508	Ptosis	HP:0040282	ORPHA:93262
2261	FGFR3	HP:0000508	Ptosis	HP:0040283	ORPHA:2363
2261	FGFR3	HP:0000508	Ptosis	11/83	OMIM:602849
2261	FGFR3	HP:0001836	Camptodactyly of toe	-	OMIM:610474
2261	FGFR3	HP:0000505	Visual impairment	HP:0040283	ORPHA:93262
2261	FGFR3	HP:0001831	Short toe	HP:0040281	ORPHA:429
2261	FGFR3	HP:0004060	Trident hand	0/2	OMIM:146000
2261	FGFR3	HP:0004060	Trident hand	HP:0040282	ORPHA:15
2261	FGFR3	HP:0004060	Trident hand	1/1	OMIM:100800
2261	FGFR3	HP:0000577	Exotropia	1/3	OMIM:616482
2261	FGFR3	HP:0000577	Exotropia	HP:0040284	ORPHA:2363
2261	FGFR3	HP:0000592	Blue sclerae	2/7	OMIM:615777
2261	FGFR3	HP:0011220	Prominent forehead	2/2	OMIM:146000
2261	FGFR3	HP:0011220	Prominent forehead	1/1	OMIM:187600
2261	FGFR3	HP:0000564	Lacrimal duct atresia	2/2	OMIM:620192
2261	FGFR3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2261	FGFR3	HP:0012514	Lower limb pain	4/4	OMIM:131300
2263	FGFR2	HP:0001177	Preaxial hand polydactyly	HP:0040283	OMIM:101200
2263	FGFR2	HP:0001172	Abnormal thumb morphology	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0001156	Brachydactyly	-	OMIM:101400
2263	FGFR2	HP:0001156	Brachydactyly	HP:0040282	ORPHA:794
2263	FGFR2	HP:0001156	Brachydactyly	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0001156	Brachydactyly	-	OMIM:614592
2263	FGFR2	HP:0001166	Arachnodactyly	-	OMIM:207410
2263	FGFR2	HP:0001162	Postaxial hand polydactyly	HP:0040283	OMIM:101200
2263	FGFR2	HP:0001159	Syndactyly	-	OMIM:101400
2263	FGFR2	HP:0001159	Syndactyly	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0001159	Syndactyly	-	OMIM:101600
2263	FGFR2	HP:0001159	Syndactyly	1/2	OMIM:101200
2263	FGFR2	HP:0003795	Short middle phalanx of toe	-	OMIM:101600
2263	FGFR2	HP:0009968	Partial duplication of the distal phalanx of the 3rd finger	-	OMIM:101400
2263	FGFR2	HP:0009951	Partial duplication of the distal phalanx of the 2nd finger	-	OMIM:101400
2263	FGFR2	HP:0009942	Duplication of thumb phalanx	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0009944	Partial duplication of thumb phalanx	11/14	OMIM:149730
2263	FGFR2	HP:0009926	Epiphora	HP:0040282	ORPHA:2363
2263	FGFR2	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:794
2263	FGFR2	HP:0001199	Triphalangeal thumb	1/4	OMIM:149730
2263	FGFR2	HP:0009906	Aplasia/Hypoplasia of the earlobes	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0009891	Underdeveloped supraorbital ridges	1/1	OMIM:123790
2263	FGFR2	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:1540
2263	FGFR2	HP:0009899	Prominent crus of helix	HP:0040282	ORPHA:794
2263	FGFR2	HP:0009899	Prominent crus of helix	-	OMIM:101400
2263	FGFR2	HP:0008551	Microtia	3/4	OMIM:149730
2263	FGFR2	HP:0008551	Microtia	-	OMIM:101400
2263	FGFR2	HP:0008551	Microtia	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0008551	Microtia	HP:0040282	ORPHA:794
2263	FGFR2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2263	FGFR2	HP:0002410	Aqueductal stenosis	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0002410	Aqueductal stenosis	HP:0040283	ORPHA:93258
2263	FGFR2	HP:0002410	Aqueductal stenosis	HP:0040282	ORPHA:93259
2263	FGFR2	HP:0007291	Posterior fossa cyst	-	OMIM:101200
2263	FGFR2	HP:0001293	Cranial nerve compression	-	OMIM:131300
2263	FGFR2	HP:6000648	3-4 toe cutaneous syndactyly	1/5	OMIM:101600
2263	FGFR2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:87
2263	FGFR2	HP:0001274	Agenesis of corpus callosum	-	OMIM:123790
2263	FGFR2	HP:0001274	Agenesis of corpus callosum	4/36	OMIM:101200
2263	FGFR2	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:168624
2263	FGFR2	HP:0001250	Seizure	HP:0040283	ORPHA:794
2263	FGFR2	HP:0001250	Seizure	HP:0040282	ORPHA:93260
2263	FGFR2	HP:0001250	Seizure	HP:0040282	ORPHA:93259
2263	FGFR2	HP:0001250	Seizure	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0001250	Seizure	-	OMIM:123500
2263	FGFR2	HP:0001252	Hypotonia	2/7	OMIM:615777
2263	FGFR2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:87
2263	FGFR2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93260
2263	FGFR2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93259
2263	FGFR2	HP:0001249	Intellectual disability	-	OMIM:207410
2263	FGFR2	HP:0001249	Intellectual disability	HP:0040283	OMIM:101400
2263	FGFR2	HP:0001249	Intellectual disability	0/8	OMIM:123500
2263	FGFR2	HP:0001249	Intellectual disability	-	OMIM:101200
2263	FGFR2	HP:0001249	Intellectual disability	-	OMIM:101600
2263	FGFR2	HP:0001249	Intellectual disability	-	OMIM:609579
2263	FGFR2	HP:0001249	Intellectual disability	5/7	OMIM:615777
2263	FGFR2	HP:0001263	Global developmental delay	1/1	OMIM:123790
2263	FGFR2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:93259
2263	FGFR2	HP:0001263	Global developmental delay	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0001263	Global developmental delay	-	OMIM:615777
2263	FGFR2	HP:0001233	2-3 finger cutaneous syndactyly	-	OMIM:149730
2263	FGFR2	HP:0001245	Small thenar eminence	-	OMIM:149730
2263	FGFR2	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:93260
2263	FGFR2	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:93259
2263	FGFR2	HP:0006110	Shortening of all middle phalanges of the fingers	-	OMIM:101600
2263	FGFR2	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:794
2263	FGFR2	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:87
2263	FGFR2	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:93260
2263	FGFR2	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:93258
2263	FGFR2	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:93259
2263	FGFR2	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0006101	Finger syndactyly	-	OMIM:101600
2263	FGFR2	HP:0006101	Finger syndactyly	36/36	OMIM:101200
2263	FGFR2	HP:0008743	Coronal hypospadias	-	OMIM:149730
2263	FGFR2	HP:0100876	Infra-orbital crease	1/1	OMIM:123790
2263	FGFR2	HP:0007343	Abnormal morphology of the limbic system	-	OMIM:101200
2263	FGFR2	HP:0008665	Clitoral hypertrophy	3/3	OMIM:614592
2263	FGFR2	HP:0008665	Clitoral hypertrophy	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0002515	Waddling gait	54/102	OMIM:131300
2263	FGFR2	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:794
2263	FGFR2	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:93260
2263	FGFR2	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:207
2263	FGFR2	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:93259
2263	FGFR2	HP:0003828	Variable expressivity	-	OMIM:101400
2263	FGFR2	HP:0000089	Renal hypoplasia	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:93260
2263	FGFR2	HP:0000063	Fused labia minora	-	OMIM:207410
2263	FGFR2	HP:0000059	Hypoplastic labia majora	-	OMIM:207410
2263	FGFR2	HP:0000059	Hypoplastic labia majora	1/1	OMIM:123790
2263	FGFR2	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:93260
2263	FGFR2	HP:0000076	Vesicoureteral reflux	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0001377	Limited elbow extension	-	OMIM:123790
2263	FGFR2	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:93259
2263	FGFR2	HP:0001371	Flexion contracture	-	OMIM:207410
2263	FGFR2	HP:0001369	Arthritis	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0001382	Joint hypermobility	-	OMIM:615777
2263	FGFR2	HP:0000048	Bifid scrotum	HP:0040282	ORPHA:1555
2263	FGFR2	HP:0000048	Bifid scrotum	-	OMIM:123790
2263	FGFR2	HP:0000047	Hypospadias	1/1	OMIM:123790
2263	FGFR2	HP:0001355	Megalencephaly	-	OMIM:101200
2263	FGFR2	HP:0002678	Skull asymmetry	-	OMIM:101400
2263	FGFR2	HP:0002676	Cloverleaf skull	HP:0040283	ORPHA:87
2263	FGFR2	HP:0002676	Cloverleaf skull	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0002676	Cloverleaf skull	HP:0040283	OMIM:101600
2263	FGFR2	HP:0002676	Cloverleaf skull	2/2	OMIM:123790
2263	FGFR2	HP:0002676	Cloverleaf skull	HP:0040281	ORPHA:93259
2263	FGFR2	HP:0002697	Parietal foramina	HP:0040283	ORPHA:794
2263	FGFR2	HP:0002697	Parietal foramina	-	OMIM:101400
2263	FGFR2	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:87
2263	FGFR2	HP:0001363	Craniosynostosis	1/1	OMIM:123790
2263	FGFR2	HP:0001363	Craniosynostosis	36/36	OMIM:101200
2263	FGFR2	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:794
2263	FGFR2	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:1555
2263	FGFR2	HP:0001363	Craniosynostosis	-	OMIM:123150
2263	FGFR2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2263	FGFR2	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:794
2263	FGFR2	HP:0001357	Plagiocephaly	-	OMIM:101400
2263	FGFR2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:794
2263	FGFR2	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0000028	Cryptorchidism	1/2	OMIM:101200
2263	FGFR2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1555
2263	FGFR2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2263	FGFR2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:87
2263	FGFR2	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:123790
2263	FGFR2	HP:0007517	Palmoplantar cutis laxa	1/1	OMIM:123790
2263	FGFR2	HP:0007469	Palmoplantar cutis gyrata	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0002663	Delayed epiphyseal ossification	1/3	OMIM:101200
2263	FGFR2	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:87
2263	FGFR2	HP:0001331	Absent septum pellucidum	-	OMIM:101200
2263	FGFR2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2263	FGFR2	HP:0001324	Muscle weakness	40/96	OMIM:131300
2263	FGFR2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2263	FGFR2	HP:6000807	Cervical C6/C7 vertebrae fusion	-	OMIM:101200
2263	FGFR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2263	FGFR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:207410
2263	FGFR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:123500
2263	FGFR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614592
2263	FGFR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:101200
2263	FGFR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:123790
2263	FGFR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:101400
2263	FGFR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2263	FGFR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:149730
2263	FGFR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:123150
2263	FGFR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:101600
2263	FGFR2	HP:0002650	Scoliosis	HP:0040283	ORPHA:794
2263	FGFR2	HP:0002650	Scoliosis	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0002650	Scoliosis	12/14	OMIM:131300
2263	FGFR2	HP:0001321	Cerebellar hypoplasia	3/36	OMIM:101200
2263	FGFR2	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:207
2263	FGFR2	HP:0003974	Absent radius	-	OMIM:149730
2263	FGFR2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2263	FGFR2	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:101400
2263	FGFR2	HP:0002623	Overriding aorta	-	OMIM:101200
2263	FGFR2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2263	FGFR2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2263	FGFR2	HP:0000189	Narrow palate	HP:0040282	ORPHA:794
2263	FGFR2	HP:0000189	Narrow palate	HP:0040282	ORPHA:1555
2263	FGFR2	HP:0000189	Narrow palate	1/1	OMIM:123790
2263	FGFR2	HP:0000189	Narrow palate	HP:0040282	ORPHA:87
2263	FGFR2	HP:0000189	Narrow palate	HP:0040283	ORPHA:207
2263	FGFR2	HP:0000189	Narrow palate	-	OMIM:101400
2263	FGFR2	HP:0000189	Narrow palate	-	OMIM:101200
2263	FGFR2	HP:0000198	Absence of Stensen duct	-	OMIM:149730
2263	FGFR2	HP:0000193	Bifid uvula	HP:0040283	ORPHA:794
2263	FGFR2	HP:0000193	Bifid uvula	HP:0040283	ORPHA:87
2263	FGFR2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2263	FGFR2	HP:0000193	Bifid uvula	1/1	OMIM:123790
2263	FGFR2	HP:0000193	Bifid uvula	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0000193	Bifid uvula	1/2	OMIM:101200
2263	FGFR2	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:2363
2263	FGFR2	HP:0000160	Narrow mouth	1/1	OMIM:123790
2263	FGFR2	HP:0000160	Narrow mouth	HP:0040283	ORPHA:1555
2263	FGFR2	HP:0012155	Decreased corneal sensation	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0000175	Cleft palate	-	OMIM:101400
2263	FGFR2	HP:0000175	Cleft palate	-	OMIM:101200
2263	FGFR2	HP:0000175	Cleft palate	HP:0040283	ORPHA:794
2263	FGFR2	HP:0000175	Cleft palate	HP:0040283	ORPHA:87
2263	FGFR2	HP:0000175	Cleft palate	HP:0040283	ORPHA:93260
2263	FGFR2	HP:0000175	Cleft palate	HP:0040283	ORPHA:93259
2263	FGFR2	HP:0000175	Cleft palate	2/7	OMIM:615777
2263	FGFR2	HP:0000175	Cleft palate	HP:0040283	ORPHA:1555
2263	FGFR2	HP:0000174	Abnormal palate morphology	HP:0040282	ORPHA:1540
2263	FGFR2	HP:0012126	Stomach cancer	-	OMIM:613659
2263	FGFR2	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0000148	Vaginal atresia	-	OMIM:207410
2263	FGFR2	HP:0000148	Vaginal atresia	-	OMIM:101200
2263	FGFR2	HP:0410067	Increased level of L-fucose in urine	-	OMIM:613659
2263	FGFR2	HP:0007678	Lacrimal duct stenosis	HP:0040282	ORPHA:794
2263	FGFR2	HP:0007656	Lacrimal gland aplasia	-	OMIM:149730
2263	FGFR2	HP:0007656	Lacrimal gland aplasia	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0007642	Congenital stationary night blindness	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0006297	Enamel hypoplasia	-	OMIM:149730
2263	FGFR2	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:794
2263	FGFR2	HP:0002780	Bronchomalacia	-	OMIM:101600
2263	FGFR2	HP:0002781	Upper airway obstruction	-	OMIM:207410
2263	FGFR2	HP:0012108	Open angle glaucoma	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0002779	Tracheomalacia	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0002779	Tracheomalacia	HP:0040282	ORPHA:93259
2263	FGFR2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:87
2263	FGFR2	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:93260
2263	FGFR2	HP:0000126	Hydronephrosis	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0000126	Hydronephrosis	-	OMIM:101200
2263	FGFR2	HP:0001442	Typified by somatic mosaicism	-	OMIM:613659
2263	FGFR2	HP:0001433	Hepatosplenomegaly	HP:0040283	OMIM:614592
2263	FGFR2	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:313855
2263	FGFR2	HP:0000104	Renal agenesis	-	OMIM:149730
2263	FGFR2	HP:6000950	Breath-holding spell	-	OMIM:123790
2263	FGFR2	HP:6000934	Glenoid dysplasia	-	OMIM:101200
2263	FGFR2	HP:0002023	Anal atresia	HP:0040283	ORPHA:93260
2263	FGFR2	HP:0002023	Anal atresia	HP:0040283	ORPHA:93259
2263	FGFR2	HP:0002021	Pyloric stenosis	-	OMIM:101200
2263	FGFR2	HP:0002032	Esophageal atresia	HP:0040283	ORPHA:87
2263	FGFR2	HP:0002032	Esophageal atresia	-	OMIM:101200
2263	FGFR2	HP:0004691	2-3 toe syndactyly	2/6	OMIM:123150
2263	FGFR2	HP:0004691	2-3 toe syndactyly	HP:0040283	ORPHA:1540
2263	FGFR2	HP:0005989	Redundant neck skin	1/1	OMIM:123790
2263	FGFR2	HP:0002015	Dysphagia	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0002007	Frontal bossing	2/2	OMIM:101200
2263	FGFR2	HP:0002007	Frontal bossing	-	OMIM:123500
2263	FGFR2	HP:0002007	Frontal bossing	HP:0040281	ORPHA:207
2263	FGFR2	HP:0002007	Frontal bossing	HP:0040281	ORPHA:87
2263	FGFR2	HP:0002007	Frontal bossing	-	OMIM:207410
2263	FGFR2	HP:0002007	Frontal bossing	HP:0040282	ORPHA:1540
2263	FGFR2	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:794
2263	FGFR2	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:794
2263	FGFR2	HP:0004635	Cervical C5/C6 vertebrae fusion	HP:0040282	ORPHA:87
2263	FGFR2	HP:0004635	Cervical C5/C6 vertebrae fusion	-	OMIM:101200
2263	FGFR2	HP:0003319	Abnormality of the cervical spine	-	OMIM:123500
2263	FGFR2	HP:0011800	Midface retrusion	HP:0040282	ORPHA:168624
2263	FGFR2	HP:0011800	Midface retrusion	2/2	OMIM:123790
2263	FGFR2	HP:0011800	Midface retrusion	40/40	OMIM:101200
2263	FGFR2	HP:0011800	Midface retrusion	8/8	OMIM:123500
2263	FGFR2	HP:0011800	Midface retrusion	HP:0040282	ORPHA:207
2263	FGFR2	HP:0011800	Midface retrusion	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0011800	Midface retrusion	HP:0040282	ORPHA:87
2263	FGFR2	HP:0011800	Midface retrusion	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0011800	Midface retrusion	HP:0040281	ORPHA:93258
2263	FGFR2	HP:0011800	Midface retrusion	-	OMIM:207410
2263	FGFR2	HP:0011800	Midface retrusion	-	OMIM:614592
2263	FGFR2	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0011800	Midface retrusion	1/6	OMIM:123150
2263	FGFR2	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1540
2263	FGFR2	HP:0002098	Respiratory distress	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0002098	Respiratory distress	HP:0040281	ORPHA:93259
2263	FGFR2	HP:0002098	Respiratory distress	-	OMIM:123790
2263	FGFR2	HP:0002098	Respiratory distress	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:87
2263	FGFR2	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:207
2263	FGFR2	HP:0002076	Migraine	HP:0040283	ORPHA:794
2263	FGFR2	HP:0003388	Easy fatigability	36/76	OMIM:131300
2263	FGFR2	HP:0009462	Radial deviation of the 3rd finger	-	OMIM:149730
2263	FGFR2	HP:0008122	Calcaneonavicular fusion	1/6	OMIM:123150
2263	FGFR2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2263	FGFR2	HP:0008111	Broad distal hallux	-	OMIM:101200
2263	FGFR2	HP:0100583	Corneal perforation	-	OMIM:149730
2263	FGFR2	HP:0010455	Steep acetabular roof	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:168624
2263	FGFR2	HP:0002119	Ventriculomegaly	1/1	OMIM:123790
2263	FGFR2	HP:0002119	Ventriculomegaly	-	OMIM:101200
2263	FGFR2	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:87
2263	FGFR2	HP:0003422	Vertebral segmentation defect	HP:0040282	ORPHA:87
2263	FGFR2	HP:0010609	Skin tags	1/1	OMIM:123790
2263	FGFR2	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040282	ORPHA:87
2263	FGFR2	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040281	ORPHA:93258
2263	FGFR2	HP:0009603	Deviation of the thumb	HP:0040281	ORPHA:93259
2263	FGFR2	HP:0002164	Nail dysplasia	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0010554	Cutaneous finger syndactyly	2/2	OMIM:101200
2263	FGFR2	HP:0010541	Cutis gyrata of scalp	2/2	OMIM:123790
2263	FGFR2	HP:0010535	Sleep apnea	HP:0040283	ORPHA:794
2263	FGFR2	HP:0010535	Sleep apnea	-	OMIM:123500
2263	FGFR2	HP:0034530	Bent long bone	4/4	OMIM:614592
2263	FGFR2	HP:0003577	Congenital onset	1/1	OMIM:123790
2263	FGFR2	HP:0003577	Congenital onset	4/4	OMIM:614592
2263	FGFR2	HP:0003577	Congenital onset	4/4	OMIM:101200
2263	FGFR2	HP:0100702	Arachnoid cyst	HP:0040283	ORPHA:87
2263	FGFR2	HP:0100702	Arachnoid cyst	-	OMIM:101200
2263	FGFR2	HP:0009738	Abnormal antihelix morphology	HP:0040282	ORPHA:794
2263	FGFR2	HP:0010720	Abnormal hair pattern	HP:0040283	ORPHA:794
2263	FGFR2	HP:0009740	Aplasia of the parotid gland	-	OMIM:149730
2263	FGFR2	HP:0009741	Nephrosclerosis	-	OMIM:149730
2263	FGFR2	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:87
2263	FGFR2	HP:0100761	Visceral angiomatosis	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0010621	Cutaneous syndactyly of toes	2/2	OMIM:101200
2263	FGFR2	HP:0009642	Broad distal phalanx of the thumb	-	OMIM:101200
2263	FGFR2	HP:0009637	Absent proximal phalanx of thumb	-	OMIM:149730
2263	FGFR2	HP:0003510	Severe short stature	7/7	OMIM:615777
2263	FGFR2	HP:0007099	Chiari type I malformation	-	OMIM:101200
2263	FGFR2	HP:0020049	Exodeviation	1/1	OMIM:123790
2263	FGFR2	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:207
2263	FGFR2	HP:0001061	Acne	-	OMIM:101200
2263	FGFR2	HP:0002342	Intellectual disability, moderate	-	OMIM:101400
2263	FGFR2	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:794
2263	FGFR2	HP:0001007	Hirsutism	3/3	OMIM:614592
2263	FGFR2	HP:0001007	Hirsutism	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0002315	Headache	-	OMIM:131300
2263	FGFR2	HP:0002315	Headache	HP:0040283	ORPHA:794
2263	FGFR2	HP:0002315	Headache	HP:0040283	ORPHA:207
2263	FGFR2	HP:0004976	Knee dislocation	6/7	OMIM:615777
2263	FGFR2	HP:0004991	Rhizomelic arm shortening	19/34	OMIM:101200
2263	FGFR2	HP:0200020	Corneal erosion	HP:0040283	ORPHA:87
2263	FGFR2	HP:0001096	Keratoconjunctivitis	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0010807	Open bite	HP:0040282	ORPHA:794
2263	FGFR2	HP:0010807	Open bite	HP:0040282	ORPHA:168624
2263	FGFR2	HP:0001097	Keratoconjunctivitis sicca	HP:0040282	ORPHA:2363
2263	FGFR2	HP:0001092	Absent lacrimal punctum	3/4	OMIM:149730
2263	FGFR2	HP:0001092	Absent lacrimal punctum	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0001090	Abnormally large globe	3/3	OMIM:614592
2263	FGFR2	HP:0009804	Tooth agenesis	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0100621	Dysgerminoma	-	OMIM:123500
2263	FGFR2	HP:0009803	Short phalanx of finger	-	OMIM:615777
2263	FGFR2	HP:0200055	Small hand	HP:0040282	ORPHA:93260
2263	FGFR2	HP:0200055	Small hand	HP:0040282	ORPHA:93259
2263	FGFR2	HP:0009773	Symphalangism affecting the phalanges of the hand	HP:0040283	ORPHA:1540
2263	FGFR2	HP:0009777	Absent thumb	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0009778	Short thumb	3/4	OMIM:149730
2263	FGFR2	HP:0009778	Short thumb	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0010743	Short metatarsal	HP:0040281	ORPHA:1540
2263	FGFR2	HP:0009763	Limb pain	63/92	OMIM:131300
2263	FGFR2	HP:0002308	Chiari malformation	1/1	OMIM:123790
2263	FGFR2	HP:0002308	Chiari malformation	HP:0040283	ORPHA:87
2263	FGFR2	HP:0002308	Chiari malformation	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0002308	Chiari malformation	HP:0040282	ORPHA:207
2263	FGFR2	HP:0002308	Chiari malformation	HP:0040281	ORPHA:93259
2263	FGFR2	HP:0002308	Chiari malformation	-	OMIM:101600
2263	FGFR2	HP:0003621	Juvenile onset	-	OMIM:131300
2263	FGFR2	HP:0032107	Limbal stem cell deficiency	-	OMIM:149730
2263	FGFR2	HP:0032107	Limbal stem cell deficiency	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2263	FGFR2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:149730
2263	FGFR2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:101400
2263	FGFR2	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:794
2263	FGFR2	HP:0010084	Duplication of the distal phalanx of the hallux	HP:0040283	ORPHA:794
2263	FGFR2	HP:0010086	Broad proximal phalanx of the hallux	2/6	OMIM:123150
2263	FGFR2	HP:0010068	Broad first metatarsal	5/6	OMIM:123150
2263	FGFR2	HP:0010077	Broad distal phalanx of the hallux	4/6	OMIM:123150
2263	FGFR2	HP:0010059	Broad hallux phalanx	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0010059	Broad hallux phalanx	HP:0040281	ORPHA:1540
2263	FGFR2	HP:0010059	Broad hallux phalanx	HP:0040281	ORPHA:93258
2263	FGFR2	HP:0010059	Broad hallux phalanx	HP:0040281	ORPHA:93259
2263	FGFR2	HP:0010059	Broad hallux phalanx	HP:0040283	ORPHA:168624
2263	FGFR2	HP:0004279	Short palm	HP:0040282	ORPHA:93258
2263	FGFR2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2263	FGFR2	HP:6001056	Out-toeing	-	OMIM:131300
2263	FGFR2	HP:0000651	Diplopia	-	OMIM:131300
2263	FGFR2	HP:0000646	Amblyopia	HP:0040283	ORPHA:794
2263	FGFR2	HP:0000646	Amblyopia	HP:0040283	ORPHA:93260
2263	FGFR2	HP:0000646	Amblyopia	HP:0040283	ORPHA:207
2263	FGFR2	HP:0000648	Optic atrophy	1/1	OMIM:123790
2263	FGFR2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:794
2263	FGFR2	HP:0000648	Optic atrophy	-	OMIM:123500
2263	FGFR2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:207
2263	FGFR2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:87
2263	FGFR2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1555
2263	FGFR2	HP:0001978	Extramedullary hematopoiesis	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0000643	Blepharospasm	HP:0040282	ORPHA:794
2263	FGFR2	HP:0000612	Iris coloboma	HP:0040283	ORPHA:207
2263	FGFR2	HP:0000614	Abnormal nasolacrimal system morphology	-	OMIM:101400
2263	FGFR2	HP:0000629	Periorbital fullness	-	OMIM:149730
2263	FGFR2	HP:0001956	Truncal obesity	2/7	OMIM:615777
2263	FGFR2	HP:0000620	Dacryocystitis	-	OMIM:149730
2263	FGFR2	HP:0000601	Hypotelorism	HP:0040283	ORPHA:794
2263	FGFR2	HP:0001903	Anemia	HP:0040283	OMIM:131300
2263	FGFR2	HP:0010049	Short metacarpal	-	OMIM:615777
2263	FGFR2	HP:0011380	Abnormal semicircular canal morphology	HP:0040282	ORPHA:87
2263	FGFR2	HP:0011386	Narrow internal auditory canal	HP:0040282	ORPHA:794
2263	FGFR2	HP:0011386	Narrow internal auditory canal	HP:0040283	ORPHA:207
2263	FGFR2	HP:0010055	Broad hallux	-	OMIM:149730
2263	FGFR2	HP:0010055	Broad hallux	-	OMIM:123150
2263	FGFR2	HP:0010055	Broad hallux	-	OMIM:101600
2263	FGFR2	HP:0010055	Broad hallux	2/2	OMIM:101200
2263	FGFR2	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:2363
2263	FGFR2	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:87
2263	FGFR2	HP:0000684	Delayed eruption of teeth	-	OMIM:101200
2263	FGFR2	HP:0000680	Delayed eruption of primary teeth	-	OMIM:149730
2263	FGFR2	HP:0000678	Dental crowding	7/8	OMIM:123500
2263	FGFR2	HP:0000678	Dental crowding	HP:0040282	ORPHA:87
2263	FGFR2	HP:0000678	Dental crowding	-	OMIM:615777
2263	FGFR2	HP:0000678	Dental crowding	-	OMIM:101600
2263	FGFR2	HP:0000695	Natal tooth	1/3	OMIM:614592
2263	FGFR2	HP:0000695	Natal tooth	1/1	OMIM:123790
2263	FGFR2	HP:0000695	Natal tooth	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0000691	Microdontia	3/4	OMIM:149730
2263	FGFR2	HP:0000691	Microdontia	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0011324	Multiple suture craniosynostosis	HP:0040281	ORPHA:207
2263	FGFR2	HP:0011323	Cleft of chin	-	OMIM:101400
2263	FGFR2	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:87
2263	FGFR2	HP:0000689	Dental malocclusion	11/13	OMIM:101200
2263	FGFR2	HP:0011318	Bicoronal synostosis	HP:0040281	ORPHA:93258
2263	FGFR2	HP:0000670	Carious teeth	2/4	OMIM:149730
2263	FGFR2	HP:0000670	Carious teeth	-	OMIM:131300
2263	FGFR2	HP:0000670	Carious teeth	HP:0040282	ORPHA:2363
2263	FGFR2	HP:0011304	Broad thumb	HP:0040283	ORPHA:794
2263	FGFR2	HP:0011304	Broad thumb	HP:0040282	ORPHA:87
2263	FGFR2	HP:0011304	Broad thumb	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0011304	Broad thumb	2/7	OMIM:615777
2263	FGFR2	HP:0011304	Broad thumb	HP:0040281	ORPHA:93258
2263	FGFR2	HP:0011304	Broad thumb	HP:0040281	ORPHA:93259
2263	FGFR2	HP:0011304	Broad thumb	-	OMIM:101600
2263	FGFR2	HP:0011304	Broad thumb	1/2	OMIM:101200
2263	FGFR2	HP:0000668	Hypodontia	2/4	OMIM:149730
2263	FGFR2	HP:0000668	Hypodontia	-	OMIM:615777
2263	FGFR2	HP:0000668	Hypodontia	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:207
2263	FGFR2	HP:0000664	Synophrys	-	OMIM:615777
2263	FGFR2	HP:0004322	Short stature	HP:0040283	ORPHA:794
2263	FGFR2	HP:0004322	Short stature	-	OMIM:101400
2263	FGFR2	HP:0003002	Breast carcinoma	-	OMIM:101400
2263	FGFR2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:87
2263	FGFR2	HP:0030680	Abnormal cardiovascular system morphology	-	OMIM:101400
2263	FGFR2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:794
2263	FGFR2	HP:0003070	Elbow ankylosis	-	OMIM:101600
2263	FGFR2	HP:0004397	Ectopic anus	HP:0040283	ORPHA:87
2263	FGFR2	HP:0004397	Ectopic anus	-	OMIM:101200
2263	FGFR2	HP:0004396	Poor appetite	-	OMIM:131300
2263	FGFR2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2263	FGFR2	HP:0003031	Ulnar bowing	-	OMIM:207410
2263	FGFR2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2263	FGFR2	HP:0003041	Humeroradial synostosis	-	OMIM:101600
2263	FGFR2	HP:0003041	Humeroradial synostosis	-	OMIM:207410
2263	FGFR2	HP:0003041	Humeroradial synostosis	-	OMIM:101200
2263	FGFR2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2263	FGFR2	HP:0003026	Short long bone	7/7	OMIM:615777
2263	FGFR2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2263	FGFR2	HP:0003022	Hypoplasia of the ulna	-	OMIM:149730
2263	FGFR2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2263	FGFR2	HP:0000768	Pectus carinatum	1/2	OMIM:101200
2263	FGFR2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2263	FGFR2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2263	FGFR2	HP:0012725	Cutaneous syndactyly	1/3	OMIM:101200
2263	FGFR2	HP:0000750	Delayed speech and language development	-	OMIM:615777
2263	FGFR2	HP:0011487	Increased corneal thickness	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0011496	Corneal neovascularization	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0011482	Abnormal lacrimal gland morphology	HP:0040282	ORPHA:2363
2263	FGFR2	HP:0011481	Abnormal lacrimal duct morphology	HP:0040282	ORPHA:2363
2263	FGFR2	HP:0011461	Fetal onset	7/7	OMIM:615777
2263	FGFR2	HP:0010109	Short hallux	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0010109	Short hallux	HP:0040281	ORPHA:93258
2263	FGFR2	HP:0010109	Short hallux	HP:0040281	ORPHA:93259
2263	FGFR2	HP:0010104	Absent first metatarsal	-	OMIM:101400
2263	FGFR2	HP:0010105	Short first metatarsal	2/6	OMIM:123150
2263	FGFR2	HP:0000774	Narrow chest	-	OMIM:207410
2263	FGFR2	HP:0000774	Narrow chest	2/7	OMIM:615777
2263	FGFR2	HP:0004443	Lambdoidal craniosynostosis	-	OMIM:207410
2263	FGFR2	HP:0004443	Lambdoidal craniosynostosis	-	OMIM:101400
2263	FGFR2	HP:0004443	Lambdoidal craniosynostosis	-	OMIM:123500
2263	FGFR2	HP:0004443	Lambdoidal craniosynostosis	1/3	OMIM:101200
2263	FGFR2	HP:0004442	Sagittal craniosynostosis	-	OMIM:123500
2263	FGFR2	HP:0004442	Sagittal craniosynostosis	1/2	OMIM:101200
2263	FGFR2	HP:0004440	Coronal craniosynostosis	HP:0040281	ORPHA:794
2263	FGFR2	HP:0004440	Coronal craniosynostosis	HP:0040281	ORPHA:87
2263	FGFR2	HP:0004440	Coronal craniosynostosis	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0004440	Coronal craniosynostosis	8/8	OMIM:123500
2263	FGFR2	HP:0004440	Coronal craniosynostosis	3/4	OMIM:614592
2263	FGFR2	HP:0004440	Coronal craniosynostosis	-	OMIM:101600
2263	FGFR2	HP:0004440	Coronal craniosynostosis	-	OMIM:207410
2263	FGFR2	HP:0004440	Coronal craniosynostosis	-	OMIM:101400
2263	FGFR2	HP:0004440	Coronal craniosynostosis	1/6	OMIM:123150
2263	FGFR2	HP:0004440	Coronal craniosynostosis	2/2	OMIM:101200
2263	FGFR2	HP:0004439	Craniofacial dysostosis	-	OMIM:123500
2263	FGFR2	HP:0004453	Overfolding of the superior helices	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0004450	Preauricular skin furrow	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0004450	Preauricular skin furrow	2/2	OMIM:123790
2263	FGFR2	HP:0004425	Flat forehead	-	OMIM:101400
2263	FGFR2	HP:0004411	Deviated nasal septum	8/8	OMIM:123500
2263	FGFR2	HP:0005707	Bilateral triphalangeal thumbs	-	OMIM:149730
2263	FGFR2	HP:0003196	Short nose	-	OMIM:101600
2263	FGFR2	HP:0003196	Short nose	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0003196	Short nose	HP:0040281	ORPHA:93258
2263	FGFR2	HP:0003196	Short nose	HP:0040281	ORPHA:93259
2263	FGFR2	HP:0000929	Abnormal skull morphology	HP:0040281	ORPHA:794
2263	FGFR2	HP:0000929	Abnormal skull morphology	HP:0040281	ORPHA:207
2263	FGFR2	HP:0000929	Abnormal skull morphology	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0000926	Platyspondyly	1/7	OMIM:615777
2263	FGFR2	HP:0003175	Hypoplastic ischia	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0003173	Hypoplastic pubic bone	4/4	OMIM:614592
2263	FGFR2	HP:0003189	Long nose	-	OMIM:101400
2263	FGFR2	HP:0003180	Flat acetabular roof	-	OMIM:615777
2263	FGFR2	HP:0004487	Acrobrachycephaly	HP:0040281	ORPHA:87
2263	FGFR2	HP:0004487	Acrobrachycephaly	-	OMIM:101200
2263	FGFR2	HP:0004482	Relative macrocephaly	-	OMIM:615777
2263	FGFR2	HP:0004468	Anomalous tracheal cartilage	-	OMIM:101200
2263	FGFR2	HP:0004467	Preauricular pit	1/1	OMIM:123790
2263	FGFR2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2263	FGFR2	HP:0012804	Corneal ulceration	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0012803	Anisometropia	HP:0040283	ORPHA:87
2263	FGFR2	HP:0000813	Bicornuate uterus	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0000822	Hypertension	1/1	OMIM:123790
2263	FGFR2	HP:0000822	Hypertension	HP:0040282	ORPHA:87
2263	FGFR2	HP:0000822	Hypertension	HP:0040283	ORPHA:1555
2263	FGFR2	HP:0000823	Delayed puberty	-	OMIM:131300
2263	FGFR2	HP:0010286	Abnormal salivary gland morphology	HP:0040282	ORPHA:2363
2263	FGFR2	HP:0000894	Short clavicles	-	OMIM:615777
2263	FGFR2	HP:0000894	Short clavicles	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0000894	Short clavicles	14/14	OMIM:614592
2263	FGFR2	HP:0003246	Prominent scrotal raphe	HP:0040282	ORPHA:1555
2263	FGFR2	HP:0003246	Prominent scrotal raphe	1/1	OMIM:123790
2263	FGFR2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2263	FGFR2	HP:0003275	Narrow pelvis bone	-	OMIM:207410
2263	FGFR2	HP:0000995	Melanocytic nevus	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:207
2263	FGFR2	HP:0100258	Preaxial polydactyly	-	OMIM:149730
2263	FGFR2	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:87
2263	FGFR2	HP:0000975	Hyperhidrosis	23/35	OMIM:101200
2263	FGFR2	HP:0000974	Hyperextensible skin	-	OMIM:149730
2263	FGFR2	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2263	FGFR2	HP:0000956	Acanthosis nigricans	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0000956	Acanthosis nigricans	1/1	OMIM:123790
2263	FGFR2	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:207
2263	FGFR2	HP:0034361	Redundant umbilical skin	1/1	OMIM:123790
2263	FGFR2	HP:0000938	Osteopenia	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0008080	Hallux varus	1/6	OMIM:123150
2263	FGFR2	HP:0008080	Hallux varus	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0008080	Hallux varus	HP:0040281	ORPHA:93258
2263	FGFR2	HP:0008080	Hallux varus	HP:0040281	ORPHA:93259
2263	FGFR2	HP:0000286	Epicanthus	HP:0040283	ORPHA:794
2263	FGFR2	HP:0000286	Epicanthus	1/7	OMIM:615777
2263	FGFR2	HP:0000280	Coarse facial features	2/7	OMIM:615777
2263	FGFR2	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:794
2263	FGFR2	HP:0000294	Low anterior hairline	-	OMIM:101400
2263	FGFR2	HP:0000263	Oxycephaly	-	OMIM:101400
2263	FGFR2	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:1555
2263	FGFR2	HP:0001591	Bell-shaped thorax	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0001591	Bell-shaped thorax	-	OMIM:614592
2263	FGFR2	HP:0000260	Wide anterior fontanel	-	OMIM:207410
2263	FGFR2	HP:0000262	Turricephaly	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0000262	Turricephaly	HP:0040281	ORPHA:1540
2263	FGFR2	HP:0000262	Turricephaly	HP:0040282	ORPHA:207
2263	FGFR2	HP:0000256	Macrocephaly	HP:0040281	ORPHA:168624
2263	FGFR2	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:794
2263	FGFR2	HP:0000270	Delayed cranial suture closure	-	OMIM:101400
2263	FGFR2	HP:0000270	Delayed cranial suture closure	-	OMIM:101200
2263	FGFR2	HP:0000272	Malar flattening	HP:0040281	ORPHA:93259
2263	FGFR2	HP:0000272	Malar flattening	-	OMIM:101400
2263	FGFR2	HP:0000272	Malar flattening	-	OMIM:123790
2263	FGFR2	HP:0000272	Malar flattening	-	OMIM:101200
2263	FGFR2	HP:0000272	Malar flattening	-	OMIM:207410
2263	FGFR2	HP:0000272	Malar flattening	-	OMIM:614592
2263	FGFR2	HP:0000272	Malar flattening	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0000272	Malar flattening	-	OMIM:123150
2263	FGFR2	HP:0000268	Dolichocephaly	-	OMIM:609579
2263	FGFR2	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:168624
2263	FGFR2	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0005107	Abnormal sacrum morphology	HP:0040283	ORPHA:207
2263	FGFR2	HP:0007732	Lacrimal gland hypoplasia	-	OMIM:149730
2263	FGFR2	HP:0002814	Abnormality of the lower limb	HP:0040283	ORPHA:313855
2263	FGFR2	HP:0002827	Hip dislocation	3/7	OMIM:615777
2263	FGFR2	HP:0030084	Clinodactyly	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0005037	Proximal radio-ulnar synostosis	HP:0040283	ORPHA:794
2263	FGFR2	HP:0005048	Synostosis of carpal bones	-	OMIM:101200
2263	FGFR2	HP:0000244	Brachyturricephaly	HP:0040281	ORPHA:87
2263	FGFR2	HP:0000244	Brachyturricephaly	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0000244	Brachyturricephaly	-	OMIM:101600
2263	FGFR2	HP:0000244	Brachyturricephaly	2/2	OMIM:101200
2263	FGFR2	HP:0000243	Trigonocephaly	HP:0040283	ORPHA:168624
2263	FGFR2	HP:0000239	Large fontanelles	HP:0040282	ORPHA:87
2263	FGFR2	HP:0000239	Large fontanelles	1/1	OMIM:101200
2263	FGFR2	HP:0000238	Hydrocephalus	1/1	OMIM:123790
2263	FGFR2	HP:0000238	Hydrocephalus	5/36	OMIM:101200
2263	FGFR2	HP:0000238	Hydrocephalus	1/8	OMIM:123500
2263	FGFR2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:207
2263	FGFR2	HP:0000238	Hydrocephalus	-	OMIM:101600
2263	FGFR2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:87
2263	FGFR2	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:93259
2263	FGFR2	HP:0000238	Hydrocephalus	-	OMIM:207410
2263	FGFR2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:1555
2263	FGFR2	HP:0000252	Microcephaly	-	OMIM:615777
2263	FGFR2	HP:0000248	Brachycephaly	HP:0040281	ORPHA:93258
2263	FGFR2	HP:0000248	Brachycephaly	-	OMIM:101400
2263	FGFR2	HP:0000248	Brachycephaly	1/3	OMIM:101200
2263	FGFR2	HP:0000248	Brachycephaly	HP:0040282	ORPHA:794
2263	FGFR2	HP:0000248	Brachycephaly	-	OMIM:123500
2263	FGFR2	HP:0000248	Brachycephaly	-	OMIM:207410
2263	FGFR2	HP:0000248	Brachycephaly	HP:0040282	ORPHA:207
2263	FGFR2	HP:0012210	Abnormal renal morphology	-	OMIM:207410
2263	FGFR2	HP:0000217	Xerostomia	-	OMIM:149730
2263	FGFR2	HP:0000217	Xerostomia	HP:0040282	ORPHA:2363
2263	FGFR2	HP:0000219	Thin upper lip vermilion	1/2	OMIM:101200
2263	FGFR2	HP:0000218	High palate	HP:0040282	ORPHA:168624
2263	FGFR2	HP:0000218	High palate	1/1	OMIM:123790
2263	FGFR2	HP:0000218	High palate	7/8	OMIM:123500
2263	FGFR2	HP:0000218	High palate	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0000218	High palate	HP:0040281	ORPHA:93258
2263	FGFR2	HP:0000218	High palate	HP:0040281	ORPHA:93259
2263	FGFR2	HP:0000218	High palate	2/2	OMIM:101200
2263	FGFR2	HP:0000218	High palate	-	OMIM:101600
2263	FGFR2	HP:0000212	Gingival overgrowth	-	OMIM:614592
2263	FGFR2	HP:0000212	Gingival overgrowth	1/1	OMIM:123790
2263	FGFR2	HP:0000212	Gingival overgrowth	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:1555
2263	FGFR2	HP:0001545	Anteriorly placed anus	1/1	OMIM:123790
2263	FGFR2	HP:0001561	Polyhydramnios	1/2	OMIM:101200
2263	FGFR2	HP:0002857	Genu valgum	-	OMIM:131300
2263	FGFR2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:1555
2263	FGFR2	HP:0000202	Orofacial cleft	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0001533	Slender build	-	OMIM:131300
2263	FGFR2	HP:0001507	Growth abnormality	-	OMIM:101200
2263	FGFR2	HP:0030042	Incomplete ossification of pubis	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2263	FGFR2	HP:0007807	Optic nerve compression	-	OMIM:131300
2263	FGFR2	HP:0011065	Conical incisor	1/4	OMIM:149730
2263	FGFR2	HP:0012385	Camptodactyly	-	OMIM:207410
2263	FGFR2	HP:0012368	Flat face	HP:0040281	ORPHA:87
2263	FGFR2	HP:0012368	Flat face	7/7	OMIM:615777
2263	FGFR2	HP:0012368	Flat face	-	OMIM:101400
2263	FGFR2	HP:0012368	Flat face	-	OMIM:101200
2263	FGFR2	HP:0000378	Cupped ear	4/4	OMIM:149730
2263	FGFR2	HP:0000378	Cupped ear	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:794
2263	FGFR2	HP:0000377	Abnormal pinna morphology	-	OMIM:207410
2263	FGFR2	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:2363
2263	FGFR2	HP:0000391	Thickened helices	HP:0040283	ORPHA:1555
2263	FGFR2	HP:0000389	Chronic otitis media	24/34	OMIM:101200
2263	FGFR2	HP:0000388	Otitis media	HP:0040283	ORPHA:87
2263	FGFR2	HP:0007892	Hypoplasia of the lacrimal punctum	-	OMIM:149730
2263	FGFR2	HP:0007892	Hypoplasia of the lacrimal punctum	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0006536	Airway obstruction	HP:0040283	ORPHA:87
2263	FGFR2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2263	FGFR2	HP:0001601	Laryngomalacia	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0001601	Laryngomalacia	HP:0040282	ORPHA:93259
2263	FGFR2	HP:0000365	Hearing impairment	4/4	OMIM:149730
2263	FGFR2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:794
2263	FGFR2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:93260
2263	FGFR2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:93258
2263	FGFR2	HP:0000365	Hearing impairment	-	OMIM:101400
2263	FGFR2	HP:0000365	Hearing impairment	14/35	OMIM:101200
2263	FGFR2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:207
2263	FGFR2	HP:0000365	Hearing impairment	10/67	OMIM:131300
2263	FGFR2	HP:0000364	Hearing abnormality	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0000356	Abnormality of the outer ear	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0000358	Posteriorly rotated ears	1/1	OMIM:123790
2263	FGFR2	HP:0000358	Posteriorly rotated ears	1/2	OMIM:101200
2263	FGFR2	HP:0000369	Low-set ears	HP:0040283	ORPHA:794
2263	FGFR2	HP:0000369	Low-set ears	HP:0040282	ORPHA:93260
2263	FGFR2	HP:0000369	Low-set ears	HP:0040282	ORPHA:93258
2263	FGFR2	HP:0000369	Low-set ears	HP:0040282	ORPHA:93259
2263	FGFR2	HP:0000369	Low-set ears	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0000369	Low-set ears	-	OMIM:614592
2263	FGFR2	HP:0000369	Low-set ears	-	OMIM:101400
2263	FGFR2	HP:0000369	Low-set ears	1/2	OMIM:101200
2263	FGFR2	HP:0000369	Low-set ears	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0000343	Long philtrum	-	OMIM:207410
2263	FGFR2	HP:0000343	Long philtrum	1/7	OMIM:615777
2263	FGFR2	HP:0011001	Increased bone mineral density	-	OMIM:131300
2263	FGFR2	HP:0000337	Broad forehead	-	OMIM:149730
2263	FGFR2	HP:0000337	Broad forehead	HP:0040281	ORPHA:87
2263	FGFR2	HP:0000337	Broad forehead	-	OMIM:101200
2263	FGFR2	HP:0002996	Limited elbow movement	13/36	OMIM:101200
2263	FGFR2	HP:0000348	High forehead	1/4	OMIM:149730
2263	FGFR2	HP:0000348	High forehead	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0000348	High forehead	HP:0040281	ORPHA:93258
2263	FGFR2	HP:0000348	High forehead	HP:0040281	ORPHA:93259
2263	FGFR2	HP:0000348	High forehead	-	OMIM:101400
2263	FGFR2	HP:0000348	High forehead	HP:0040281	ORPHA:168624
2263	FGFR2	HP:0000348	High forehead	-	OMIM:101200
2263	FGFR2	HP:0000348	High forehead	HP:0040281	ORPHA:794
2263	FGFR2	HP:0000348	High forehead	HP:0040281	ORPHA:207
2263	FGFR2	HP:0000347	Micrognathia	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0000347	Micrognathia	-	OMIM:614592
2263	FGFR2	HP:0000347	Micrognathia	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0002983	Micromelia	HP:0040283	ORPHA:87
2263	FGFR2	HP:0002980	Femoral bowing	-	OMIM:207410
2263	FGFR2	HP:0002979	Bowing of the legs	HP:0040283	ORPHA:313855
2263	FGFR2	HP:0000316	Hypertelorism	-	OMIM:149730
2263	FGFR2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:168624
2263	FGFR2	HP:0000316	Hypertelorism	2/2	OMIM:123790
2263	FGFR2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:794
2263	FGFR2	HP:0000316	Hypertelorism	8/8	OMIM:123500
2263	FGFR2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:87
2263	FGFR2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:93258
2263	FGFR2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:93259
2263	FGFR2	HP:0000316	Hypertelorism	3/3	OMIM:614592
2263	FGFR2	HP:0000316	Hypertelorism	-	OMIM:101400
2263	FGFR2	HP:0000316	Hypertelorism	37/38	OMIM:101200
2263	FGFR2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:207
2263	FGFR2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0000316	Hypertelorism	-	OMIM:101600
2263	FGFR2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:1555
2263	FGFR2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1540
2263	FGFR2	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0000311	Round face	2/7	OMIM:615777
2263	FGFR2	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:794
2263	FGFR2	HP:0002974	Radioulnar synostosis	-	OMIM:101400
2263	FGFR2	HP:0002991	Abnormal fibula morphology	HP:0040283	ORPHA:1540
2263	FGFR2	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:794
2263	FGFR2	HP:0000327	Hypoplasia of the maxilla	-	OMIM:123500
2263	FGFR2	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:87
2263	FGFR2	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:207
2263	FGFR2	HP:0000327	Hypoplasia of the maxilla	-	OMIM:101400
2263	FGFR2	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:1540
2263	FGFR2	HP:0000327	Hypoplasia of the maxilla	-	OMIM:101600
2263	FGFR2	HP:0002984	Hypoplasia of the radius	-	OMIM:149730
2263	FGFR2	HP:0002984	Hypoplasia of the radius	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:87
2263	FGFR2	HP:0000324	Facial asymmetry	-	OMIM:101400
2263	FGFR2	HP:0000324	Facial asymmetry	HP:0040281	ORPHA:794
2263	FGFR2	HP:0001629	Ventricular septal defect	-	OMIM:101200
2263	FGFR2	HP:0001627	Abnormal heart morphology	-	OMIM:101400
2263	FGFR2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:794
2263	FGFR2	HP:0002970	Genu varum	-	OMIM:615777
2263	FGFR2	HP:0001631	Atrial septal defect	-	OMIM:207410
2263	FGFR2	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:87
2263	FGFR2	HP:0000303	Mandibular prognathia	-	OMIM:131300
2263	FGFR2	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:168624
2263	FGFR2	HP:0000303	Mandibular prognathia	-	OMIM:101200
2263	FGFR2	HP:0000303	Mandibular prognathia	-	OMIM:123500
2263	FGFR2	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:1540
2263	FGFR2	HP:0000303	Mandibular prognathia	-	OMIM:101600
2263	FGFR2	HP:0006610	Wide intermamillary distance	1/2	OMIM:101200
2263	FGFR2	HP:0007925	Lacrimal duct aplasia	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0030313	Abnormal periosteum morphology	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0007900	Hypoplastic lacrimal duct	-	OMIM:149730
2263	FGFR2	HP:0005349	Hypoplasia of the epiglottis	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0005347	Tracheal cartilaginous sleeve	20/20	OMIM:101600
2263	FGFR2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:794
2263	FGFR2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:87
2263	FGFR2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:87
2263	FGFR2	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:794
2263	FGFR2	HP:0000405	Conductive hearing impairment	7/7	OMIM:123500
2263	FGFR2	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:207
2263	FGFR2	HP:0000400	Macrotia	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0000402	Stenosis of the external auditory canal	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0000402	Stenosis of the external auditory canal	-	OMIM:207410
2263	FGFR2	HP:0001732	Abnormality of the pancreas	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0005280	Depressed nasal bridge	1/1	OMIM:123790
2263	FGFR2	HP:0005280	Depressed nasal bridge	2/5	OMIM:101200
2263	FGFR2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:794
2263	FGFR2	HP:0005280	Depressed nasal bridge	-	OMIM:101600
2263	FGFR2	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:87
2263	FGFR2	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:93258
2263	FGFR2	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:93259
2263	FGFR2	HP:0005280	Depressed nasal bridge	-	OMIM:207410
2263	FGFR2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2263	FGFR2	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0000486	Strabismus	HP:0040282	ORPHA:794
2263	FGFR2	HP:0000486	Strabismus	-	OMIM:123500
2263	FGFR2	HP:0000486	Strabismus	HP:0040282	ORPHA:87
2263	FGFR2	HP:0000486	Strabismus	-	OMIM:101400
2263	FGFR2	HP:0000486	Strabismus	23/34	OMIM:101200
2263	FGFR2	HP:0000486	Strabismus	HP:0040282	ORPHA:207
2263	FGFR2	HP:0000486	Strabismus	-	OMIM:101600
2263	FGFR2	HP:0000486	Strabismus	HP:0040282	ORPHA:1540
2263	FGFR2	HP:0000485	Megalocornea	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:1555
2263	FGFR2	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:2363
2263	FGFR2	HP:0000495	Recurrent corneal erosions	-	OMIM:149730
2263	FGFR2	HP:0000495	Recurrent corneal erosions	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0000494	Downslanted palpebral fissures	1/4	OMIM:149730
2263	FGFR2	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:123790
2263	FGFR2	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:101200
2263	FGFR2	HP:0000494	Downslanted palpebral fissures	-	OMIM:101600
2263	FGFR2	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:87
2263	FGFR2	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0000491	Keratitis	-	OMIM:123500
2263	FGFR2	HP:0001792	Small nail	-	OMIM:123790
2263	FGFR2	HP:0000463	Anteverted nares	1/1	OMIM:123790
2263	FGFR2	HP:0000463	Anteverted nares	1/2	OMIM:101200
2263	FGFR2	HP:0000463	Anteverted nares	HP:0040283	ORPHA:1555
2263	FGFR2	HP:0000460	Narrow nose	-	OMIM:101400
2263	FGFR2	HP:0000458	Anosmia	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0000470	Short neck	1/7	OMIM:615777
2263	FGFR2	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:87
2263	FGFR2	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:93260
2263	FGFR2	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:93258
2263	FGFR2	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:93259
2263	FGFR2	HP:0001770	Toe syndactyly	-	OMIM:101400
2263	FGFR2	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:168624
2263	FGFR2	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:1540
2263	FGFR2	HP:0001773	Short foot	HP:0040282	ORPHA:93260
2263	FGFR2	HP:0001773	Short foot	HP:0040282	ORPHA:93258
2263	FGFR2	HP:0001773	Short foot	HP:0040282	ORPHA:93259
2263	FGFR2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2263	FGFR2	HP:0001763	Pes planus	1/7	OMIM:615777
2263	FGFR2	HP:0000453	Choanal atresia	-	OMIM:207410
2263	FGFR2	HP:0000453	Choanal atresia	HP:0040283	ORPHA:87
2263	FGFR2	HP:0000453	Choanal atresia	HP:0040282	ORPHA:93260
2263	FGFR2	HP:0000453	Choanal atresia	HP:0040283	ORPHA:207
2263	FGFR2	HP:0000453	Choanal atresia	HP:0040282	ORPHA:93259
2263	FGFR2	HP:0000453	Choanal atresia	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0000453	Choanal atresia	-	OMIM:123790
2263	FGFR2	HP:0000453	Choanal atresia	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0000453	Choanal atresia	-	OMIM:101600
2263	FGFR2	HP:0000453	Choanal atresia	8/34	OMIM:101200
2263	FGFR2	HP:0001783	Broad metatarsal	HP:0040281	ORPHA:1540
2263	FGFR2	HP:0001783	Broad metatarsal	-	OMIM:123150
2263	FGFR2	HP:0000452	Choanal stenosis	-	OMIM:101600
2263	FGFR2	HP:0000452	Choanal stenosis	-	OMIM:207410
2263	FGFR2	HP:0000452	Choanal stenosis	1/1	OMIM:123790
2263	FGFR2	HP:0000452	Choanal stenosis	1/2	OMIM:101200
2263	FGFR2	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:794
2263	FGFR2	HP:0000444	Convex nasal ridge	8/8	OMIM:123500
2263	FGFR2	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:87
2263	FGFR2	HP:0000444	Convex nasal ridge	HP:0040283	ORPHA:207
2263	FGFR2	HP:0000444	Convex nasal ridge	-	OMIM:101400
2263	FGFR2	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:1540
2263	FGFR2	HP:0000410	Mixed hearing impairment	-	OMIM:149730
2263	FGFR2	HP:0000410	Mixed hearing impairment	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0000413	Atresia of the external auditory canal	-	OMIM:123500
2263	FGFR2	HP:0000413	Atresia of the external auditory canal	1/1	OMIM:123790
2263	FGFR2	HP:0000413	Atresia of the external auditory canal	HP:0040282	ORPHA:93259
2263	FGFR2	HP:0000426	Prominent nasal bridge	1/1	OMIM:123790
2263	FGFR2	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:794
2263	FGFR2	HP:0011297	Abnormal digit morphology	HP:0040282	ORPHA:2363
2263	FGFR2	HP:0005474	Decreased calvarial ossification	4/4	OMIM:614592
2263	FGFR2	HP:0005474	Decreased calvarial ossification	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0005469	Flat occiput	1/1	OMIM:123790
2263	FGFR2	HP:0001845	Overlapping toe	1/1	OMIM:123790
2263	FGFR2	HP:0001841	Preaxial foot polydactyly	HP:0040283	ORPHA:1540
2263	FGFR2	HP:0001840	Metatarsus adductus	-	OMIM:615777
2263	FGFR2	HP:0000520	Proptosis	HP:0040281	ORPHA:87
2263	FGFR2	HP:0000520	Proptosis	HP:0040281	ORPHA:93260
2263	FGFR2	HP:0000520	Proptosis	2/4	OMIM:131300
2263	FGFR2	HP:0000520	Proptosis	HP:0040282	ORPHA:93258
2263	FGFR2	HP:0000520	Proptosis	HP:0040281	ORPHA:93259
2263	FGFR2	HP:0000520	Proptosis	1/1	OMIM:123790
2263	FGFR2	HP:0000520	Proptosis	40/40	OMIM:101200
2263	FGFR2	HP:0000520	Proptosis	7/7	OMIM:123500
2263	FGFR2	HP:0000520	Proptosis	-	OMIM:207410
2263	FGFR2	HP:0000520	Proptosis	7/7	OMIM:615777
2263	FGFR2	HP:0000520	Proptosis	HP:0040282	ORPHA:207
2263	FGFR2	HP:0000520	Proptosis	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0000520	Proptosis	1/6	OMIM:123150
2263	FGFR2	HP:0000520	Proptosis	HP:0040282	ORPHA:1540
2263	FGFR2	HP:0000522	Alacrima	3/4	OMIM:149730
2263	FGFR2	HP:0001822	Hallux valgus	HP:0040283	ORPHA:794
2263	FGFR2	HP:0001822	Hallux valgus	-	OMIM:101400
2263	FGFR2	HP:0001838	Rocker bottom foot	-	OMIM:207410
2263	FGFR2	HP:0001837	Broad toe	HP:0040283	ORPHA:794
2263	FGFR2	HP:0000506	Telecanthus	1/4	OMIM:149730
2263	FGFR2	HP:0000509	Conjunctivitis	1/4	OMIM:149730
2263	FGFR2	HP:0000509	Conjunctivitis	-	OMIM:123500
2263	FGFR2	HP:0000509	Conjunctivitis	HP:0040282	ORPHA:207
2263	FGFR2	HP:0001839	Split foot	HP:0040283	ORPHA:1540
2263	FGFR2	HP:0000508	Ptosis	1/1	OMIM:123790
2263	FGFR2	HP:0000508	Ptosis	HP:0040282	ORPHA:794
2263	FGFR2	HP:0000508	Ptosis	HP:0040283	ORPHA:2363
2263	FGFR2	HP:0000508	Ptosis	-	OMIM:101400
2263	FGFR2	HP:0000508	Ptosis	HP:0040282	ORPHA:207
2263	FGFR2	HP:0000508	Ptosis	HP:0040281	ORPHA:1555
2263	FGFR2	HP:0000508	Ptosis	HP:0040282	ORPHA:1540
2263	FGFR2	HP:0000505	Visual impairment	-	OMIM:123500
2263	FGFR2	HP:0000505	Visual impairment	HP:0040283	ORPHA:87
2263	FGFR2	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1555
2263	FGFR2	HP:0001804	Hypoplastic fingernail	1/1	OMIM:123790
2263	FGFR2	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:168624
2263	FGFR2	HP:0000579	Nasolacrimal duct obstruction	-	OMIM:149730
2263	FGFR2	HP:0000577	Exotropia	HP:0040284	ORPHA:2363
2263	FGFR2	HP:0000592	Blue sclerae	2/7	OMIM:615777
2263	FGFR2	HP:0011223	Metopic depression	HP:0040281	ORPHA:313855
2263	FGFR2	HP:0000586	Shallow orbits	HP:0040282	ORPHA:87
2263	FGFR2	HP:0000586	Shallow orbits	-	OMIM:123500
2263	FGFR2	HP:0000586	Shallow orbits	-	OMIM:101600
2263	FGFR2	HP:0000586	Shallow orbits	-	OMIM:101400
2263	FGFR2	HP:0000586	Shallow orbits	-	OMIM:101200
2263	FGFR2	HP:0011220	Prominent forehead	2/2	OMIM:101200
2263	FGFR2	HP:0011220	Prominent forehead	1/6	OMIM:123150
2263	FGFR2	HP:0000557	Buphthalmos	-	OMIM:101400
2263	FGFR2	HP:0000572	Visual loss	HP:0040283	ORPHA:93259
2263	FGFR2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2263	FGFR2	HP:0012514	Lower limb pain	4/4	OMIM:131300
2263	FGFR2	HP:0000545	Myopia	1/2	OMIM:101200
2266	FGG	HP:0003819	Death in childhood	3/10	OMIM:202400
2266	FGG	HP:0003811	Neonatal death	2/10	OMIM:202400
2266	FGG	HP:0001386	Joint swelling	HP:0040281	ORPHA:98880
2266	FGG	HP:0001342	Cerebral hemorrhage	HP:0040283	ORPHA:98880
2266	FGG	HP:0000007	Autosomal recessive inheritance	-	OMIM:202400
2266	FGG	HP:0006298	Prolonged bleeding after dental extraction	1/10	OMIM:202400
2266	FGG	HP:0011900	Hypofibrinogenemia	-	OMIM:202400
2266	FGG	HP:0011884	Abnormal umbilical stump bleeding	4/10	OMIM:202400
2266	FGG	HP:0003593	Infantile onset	4/13	OMIM:202400
2266	FGG	HP:0003577	Congenital onset	5/13	OMIM:202400
2266	FGG	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:98881
2266	FGG	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:101041
2266	FGG	HP:0002248	Hematemesis	1/10	OMIM:202400
2266	FGG	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:98881
2266	FGG	HP:0001934	Persistent bleeding after trauma	1/10	OMIM:202400
2266	FGG	HP:0400008	Menometrorrhagia	HP:0040281	ORPHA:98880
2266	FGG	HP:0011463	Childhood onset	4/13	OMIM:202400
2266	FGG	HP:0011421	Death in adolescence	1/10	OMIM:202400
2266	FGG	HP:0100310	Epidural hemorrhage	1/10	OMIM:202400
2266	FGG	HP:0034287	Afibrinogenemia	23/23	OMIM:202400
2266	FGG	HP:0100309	Subdural hemorrhage	1/10	OMIM:202400
2266	FGG	HP:0000978	Bruising susceptibility	1/10	OMIM:202400
2266	FGG	HP:0012223	Splenic rupture	2/10	OMIM:202400
2266	FGG	HP:0000225	Gingival bleeding	2/10	OMIM:202400
2266	FGG	HP:0000225	Gingival bleeding	HP:0040281	ORPHA:98880
2266	FGG	HP:0000225	Gingival bleeding	HP:0040281	ORPHA:98881
2266	FGG	HP:0000225	Gingival bleeding	HP:0040281	ORPHA:101041
2266	FGG	HP:0001522	Death in infancy	2/10	OMIM:202400
2266	FGG	HP:0005268	Miscarriage	HP:0040281	ORPHA:98880
2266	FGG	HP:0030137	Prolonged bleeding following circumcision	3/6	OMIM:202400
2266	FGG	HP:0000421	Epistaxis	3/10	OMIM:202400
2266	FGG	HP:0000421	Epistaxis	HP:0040281	ORPHA:98880
2266	FGG	HP:0000421	Epistaxis	HP:0040281	ORPHA:98881
2266	FGG	HP:0000421	Epistaxis	HP:0040281	ORPHA:101041
2266	FGG	HP:0001892	Abnormal bleeding	23/23	OMIM:202400
2266	FGG	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:98880
2266	FGG	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:98881
2266	FGG	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:101041
2271	FH	HP:0100954	Open operculum	-	OMIM:606812
2271	FH	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:29072
2271	FH	HP:0002421	Poor head control	HP:0040283	ORPHA:24
2271	FH	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:606812
2271	FH	HP:0001298	Encephalopathy	HP:0040282	ORPHA:24
2271	FH	HP:0025269	Panic attack	HP:0040283	ORPHA:29072
2271	FH	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:29072
2271	FH	HP:0001290	Generalized hypotonia	-	OMIM:606812
2271	FH	HP:0001274	Agenesis of corpus callosum	2/2	OMIM:606812
2271	FH	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:24
2271	FH	HP:0001254	Lethargy	HP:0040282	ORPHA:24
2271	FH	HP:0001250	Seizure	HP:0040282	ORPHA:24
2271	FH	HP:0001252	Hypotonia	HP:0040282	ORPHA:24
2271	FH	HP:0001252	Hypotonia	1/2	OMIM:606812
2271	FH	HP:0001263	Global developmental delay	HP:0040282	ORPHA:24
2271	FH	HP:0001263	Global developmental delay	-	OMIM:606812
2271	FH	HP:0001259	Coma	HP:0040283	ORPHA:24
2271	FH	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:29072
2271	FH	HP:0007437	Multiple cutaneous leiomyomas	16/21	OMIM:150800
2271	FH	HP:0007437	Multiple cutaneous leiomyomas	HP:0040281	ORPHA:523
2271	FH	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:24
2271	FH	HP:0003829	Typified by incomplete penetrance	-	OMIM:150800
2271	FH	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:24
2271	FH	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:29072
2271	FH	HP:0000093	Proteinuria	HP:0040282	ORPHA:29072
2271	FH	HP:0001399	Hepatic failure	2/2	OMIM:606812
2271	FH	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:24
2271	FH	HP:0001332	Dystonia	HP:0040283	ORPHA:24
2271	FH	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:29072
2271	FH	HP:0001339	Lissencephaly	1/2	OMIM:606812
2271	FH	HP:0000007	Autosomal recessive inheritance	-	OMIM:606812
2271	FH	HP:0002668	Paraganglioma	HP:0040281	ORPHA:29072
2271	FH	HP:0001337	Tremor	HP:0040283	ORPHA:29072
2271	FH	HP:0000006	Autosomal dominant inheritance	-	OMIM:150800
2271	FH	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:29072
2271	FH	HP:0007620	Cutaneous leiomyoma	-	OMIM:606812
2271	FH	HP:0007620	Cutaneous leiomyoma	-	OMIM:150800
2271	FH	HP:0007620	Cutaneous leiomyoma	HP:0040281	ORPHA:523
2271	FH	HP:0031284	Flushing	HP:0040282	ORPHA:29072
2271	FH	HP:0000131	Uterine leiomyoma	22/22	OMIM:150800
2271	FH	HP:0000131	Uterine leiomyoma	HP:0040283	ORPHA:523
2271	FH	HP:0001406	Intrahepatic cholestasis	2/2	OMIM:606812
2271	FH	HP:0003355	Aminoaciduria	-	OMIM:606812
2271	FH	HP:0002018	Nausea	HP:0040282	ORPHA:29072
2271	FH	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:29072
2271	FH	HP:0002013	Vomiting	HP:0040283	ORPHA:24
2271	FH	HP:0002007	Frontal bossing	-	OMIM:606812
2271	FH	HP:0002007	Frontal bossing	HP:0040282	ORPHA:24
2271	FH	HP:0002059	Cerebral atrophy	-	OMIM:606812
2271	FH	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:24
2271	FH	HP:0100580	Barrett esophagus	HP:0040283	ORPHA:523
2271	FH	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:29072
2271	FH	HP:0033165	Necrotizing enterocolitis	1/2	OMIM:606812
2271	FH	HP:0002119	Ventriculomegaly	2/2	OMIM:606812
2271	FH	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:24
2271	FH	HP:0002133	Status epilepticus	-	OMIM:606812
2271	FH	HP:0002126	Polymicrogyria	-	OMIM:606812
2271	FH	HP:0002187	Intellectual disability, profound	-	OMIM:606812
2271	FH	HP:0002190	Choroid plexus cyst	-	OMIM:606812
2271	FH	HP:0002167	Abnormal speech pattern	-	OMIM:606812
2271	FH	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:29072
2271	FH	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:29072
2271	FH	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:24
2271	FH	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:24
2271	FH	HP:0003528	Elevated circulating calcitonin concentration	HP:0040283	ORPHA:29072
2271	FH	HP:0003536	Decreased fumarate hydratase activity	HP:0040281	ORPHA:24
2271	FH	HP:0003536	Decreased fumarate hydratase activity	1/1	OMIM:606812
2271	FH	HP:0003536	Decreased fumarate hydratase activity	-	OMIM:150800
2271	FH	HP:0009711	Retinal capillary hemangioma	HP:0040283	ORPHA:29072
2271	FH	HP:0100751	Esophageal neoplasm	HP:0040283	ORPHA:523
2271	FH	HP:0100749	Chest pain	HP:0040282	ORPHA:29072
2271	FH	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:29072
2271	FH	HP:0034648	Elevated urine fumaric acid level	HP:0040283	ORPHA:24
2271	FH	HP:0034648	Elevated urine fumaric acid level	1/1	OMIM:606812
2271	FH	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:29072
2271	FH	HP:0002365	Hypoplasia of the brainstem	-	OMIM:606812
2271	FH	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:29072
2271	FH	HP:0100650	Vaginal neoplasm	HP:0040283	ORPHA:523
2271	FH	HP:0010804	Tented upper lip vermilion	HP:0040283	ORPHA:24
2271	FH	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:29072
2271	FH	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:29072
2271	FH	HP:0032106	Conjunctival icterus	1/2	OMIM:606812
2271	FH	HP:0006808	Cerebral hypomyelination	HP:0040283	ORPHA:24
2271	FH	HP:0005584	Renal cell carcinoma	20/46	OMIM:150800
2271	FH	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:29072
2271	FH	HP:0001962	Palpitations	HP:0040282	ORPHA:29072
2271	FH	HP:0000648	Optic atrophy	-	OMIM:606812
2271	FH	HP:0000648	Optic atrophy	HP:0040283	ORPHA:24
2271	FH	HP:0001943	Hypoglycemia	HP:0040284	ORPHA:24
2271	FH	HP:0001942	Metabolic acidosis	HP:0040284	ORPHA:24
2271	FH	HP:0001942	Metabolic acidosis	1/2	OMIM:606812
2271	FH	HP:0001901	Polycythemia	HP:0040283	ORPHA:24
2271	FH	HP:0001901	Polycythemia	-	OMIM:606812
2271	FH	HP:0001987	Hyperammonemia	HP:0040284	ORPHA:24
2271	FH	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:29072
2271	FH	HP:0034198	Second trimester onset	2/2	OMIM:606812
2271	FH	HP:0003011	Abnormality of the musculature	HP:0040281	ORPHA:523
2271	FH	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:29072
2271	FH	HP:0000790	Hematuria	HP:0040283	ORPHA:29072
2271	FH	HP:0030774	Mitochondrial swelling	1/1	OMIM:606812
2271	FH	HP:0003191	Cleft ala nasi	HP:0040283	ORPHA:24
2271	FH	HP:0004482	Relative macrocephaly	-	OMIM:606812
2271	FH	HP:0003128	Lactic acidosis	-	OMIM:606812
2271	FH	HP:0003128	Lactic acidosis	HP:0040284	ORPHA:24
2271	FH	HP:0000817	Reduced eye contact	HP:0040283	ORPHA:24
2271	FH	HP:0033092	Increased urine succinate level	1/1	OMIM:606812
2271	FH	HP:0000980	Pallor	HP:0040283	ORPHA:29072
2271	FH	HP:0000980	Pallor	-	OMIM:606812
2271	FH	HP:0000989	Pruritus	HP:0040282	ORPHA:523
2271	FH	HP:0011682	Perimembranous ventricular septal defect	1/2	OMIM:606812
2271	FH	HP:0000252	Microcephaly	HP:0040283	ORPHA:24
2271	FH	HP:0000252	Microcephaly	-	OMIM:606812
2271	FH	HP:0012222	Arachnoid hemangiomatosis	HP:0040283	ORPHA:29072
2271	FH	HP:0000218	High palate	-	OMIM:606812
2271	FH	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:24
2271	FH	HP:0001561	Polyhydramnios	2/2	OMIM:606812
2271	FH	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:24
2271	FH	HP:0002891	Uterine leiomyosarcoma	-	OMIM:150800
2271	FH	HP:0002891	Uterine leiomyosarcoma	HP:0040283	ORPHA:523
2271	FH	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:24
2271	FH	HP:0001541	Ascites	1/2	OMIM:606812
2271	FH	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:29072
2271	FH	HP:0001508	Failure to thrive	-	OMIM:606812
2271	FH	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:24
2271	FH	HP:0012378	Fatigue	HP:0040282	ORPHA:29072
2271	FH	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:29072
2271	FH	HP:0001618	Dysphonia	HP:0040282	ORPHA:29072
2271	FH	HP:0002904	Hyperbilirubinemia	-	OMIM:606812
2271	FH	HP:0025646	Bilateral polymicrogyria	HP:0040283	ORPHA:24
2271	FH	HP:0000316	Hypertelorism	HP:0040282	ORPHA:24
2271	FH	HP:0000316	Hypertelorism	-	OMIM:606812
2271	FH	HP:0001622	Premature birth	HP:0040282	ORPHA:24
2271	FH	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:29072
2271	FH	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:29072
2271	FH	HP:0005280	Depressed nasal bridge	-	OMIM:606812
2271	FH	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:24
2271	FH	HP:0012469	Infantile spasms	HP:0040283	ORPHA:24
2271	FH	HP:0011129	Bilateral fetal pyelectasis	1/2	OMIM:606812
2271	FH	HP:0000463	Anteverted nares	-	OMIM:606812
2271	FH	HP:0000463	Anteverted nares	HP:0040283	ORPHA:24
2271	FH	HP:0012448	Delayed myelination	HP:0040283	ORPHA:24
2271	FH	HP:0012402	Increased urine alpha-ketoglutarate concentration	HP:0040283	ORPHA:24
2271	FH	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:29072
2271	FH	HP:0006755	Cutaneous leiomyosarcoma	HP:0040283	OMIM:150800
2271	FH	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:29072
2271	FH	HP:0006732	Papillary renal cell carcinoma type 2	HP:0040283	ORPHA:523
2271	FH	HP:0000518	Cataract	HP:0040283	ORPHA:523
2271	FH	HP:0000526	Aniridia	HP:0040284	ORPHA:29072
2271	FH	HP:0001824	Weight loss	HP:0040282	ORPHA:29072
2271	FH	HP:0000505	Visual impairment	-	OMIM:606812
2271	FH	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:24
2273	FHL1	HP:0001169	Broad palm	-	OMIM:300280
2273	FHL1	HP:0002486	Myotonia	HP:0040281	ORPHA:98863
2273	FHL1	HP:0002421	Poor head control	1/2	OMIM:300717
2273	FHL1	HP:0003704	Scapuloperoneal weakness	9/9	OMIM:300696
2273	FHL1	HP:0003701	Proximal muscle weakness	-	OMIM:300696
2273	FHL1	HP:0003701	Proximal muscle weakness	-	OMIM:300695
2273	FHL1	HP:0003701	Proximal muscle weakness	1/1	OMIM:300718
2273	FHL1	HP:0003701	Proximal muscle weakness	2/2	OMIM:300717
2273	FHL1	HP:0003715	Myofibrillar myopathy	-	OMIM:300695
2273	FHL1	HP:0003712	Skeletal muscle hypertrophy	3/3	OMIM:300280
2273	FHL1	HP:0003712	Skeletal muscle hypertrophy	9/9	OMIM:300696
2273	FHL1	HP:0032232	Increased circulating creatine kinase MB isoform	1/3	OMIM:300280
2273	FHL1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98863
2273	FHL1	HP:0001288	Gait disturbance	-	OMIM:300280
2273	FHL1	HP:0001284	Areflexia	-	OMIM:300717
2273	FHL1	HP:0001252	Hypotonia	HP:0040283	ORPHA:98863
2273	FHL1	HP:0001249	Intellectual disability	-	ORPHA:98863
2273	FHL1	HP:0001249	Intellectual disability	0/3	OMIM:300280
2273	FHL1	HP:0001265	Hyporeflexia	-	OMIM:300718
2273	FHL1	HP:0001265	Hyporeflexia	-	OMIM:300717
2273	FHL1	HP:0001265	Hyporeflexia	8/10	OMIM:300695
2273	FHL1	HP:0007340	Lower limb muscle weakness	-	OMIM:300695
2273	FHL1	HP:0002515	Waddling gait	-	OMIM:300695
2273	FHL1	HP:0002515	Waddling gait	1/3	OMIM:300280
2273	FHL1	HP:0002515	Waddling gait	HP:0040282	ORPHA:98863
2273	FHL1	HP:0002505	Loss of ambulation	2/2	OMIM:300717
2273	FHL1	HP:0003805	Rimmed vacuoles	1/1	OMIM:300718
2273	FHL1	HP:0003805	Rimmed vacuoles	-	OMIM:300696
2273	FHL1	HP:0003805	Rimmed vacuoles	HP:0040282	ORPHA:98863
2273	FHL1	HP:0001374	Congenital hip dislocation	2/3	OMIM:300280
2273	FHL1	HP:0001371	Flexion contracture	1/1	OMIM:300718
2273	FHL1	HP:0001371	Flexion contracture	-	OMIM:300717
2273	FHL1	HP:0001387	Joint stiffness	HP:0040281	ORPHA:98863
2273	FHL1	HP:0002650	Scoliosis	1/1	OMIM:300718
2273	FHL1	HP:0002650	Scoliosis	1/2	OMIM:300717
2273	FHL1	HP:0002650	Scoliosis	9/9	OMIM:300696
2273	FHL1	HP:0002650	Scoliosis	HP:0040283	ORPHA:98863
2273	FHL1	HP:0002650	Scoliosis	1/3	OMIM:300280
2273	FHL1	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:98863
2273	FHL1	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:98863
2273	FHL1	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040282	ORPHA:98863
2273	FHL1	HP:0410018	Recurrent ear infections	1/3	OMIM:300280
2273	FHL1	HP:0008948	Proximal upper limb amyotrophy	HP:0040282	ORPHA:98863
2273	FHL1	HP:0008956	Proximal lower limb amyotrophy	HP:0040282	ORPHA:98863
2273	FHL1	HP:0031295	Left atrial enlargement	1/3	OMIM:300280
2273	FHL1	HP:0001423	X-linked dominant inheritance	-	OMIM:300717
2273	FHL1	HP:0001423	X-linked dominant inheritance	-	OMIM:300695
2273	FHL1	HP:0002751	Kyphoscoliosis	1/3	OMIM:300280
2273	FHL1	HP:0001419	X-linked recessive inheritance	-	OMIM:300696
2273	FHL1	HP:0001419	X-linked recessive inheritance	-	OMIM:300280
2273	FHL1	HP:0001417	X-linked inheritance	-	OMIM:300718
2273	FHL1	HP:0002747	Respiratory insufficiency due to muscle weakness	1/1	OMIM:300718
2273	FHL1	HP:0002747	Respiratory insufficiency due to muscle weakness	2/2	OMIM:300717
2273	FHL1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040284	ORPHA:98863
2273	FHL1	HP:0005991	Limited neck flexion	9/9	OMIM:300696
2273	FHL1	HP:0003307	Hyperlordosis	-	OMIM:300718
2273	FHL1	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:98863
2273	FHL1	HP:0003306	Spinal rigidity	1/1	OMIM:300718
2273	FHL1	HP:0003306	Spinal rigidity	1/2	OMIM:300717
2273	FHL1	HP:0003306	Spinal rigidity	-	OMIM:300696
2273	FHL1	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:98863
2273	FHL1	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	HP:0040282	ORPHA:98863
2273	FHL1	HP:0011807	Type 1 muscle fiber atrophy	HP:0040282	ORPHA:98863
2273	FHL1	HP:0002093	Respiratory insufficiency	2/7	OMIM:300696
2273	FHL1	HP:0003376	Steppage gait	-	OMIM:300695
2273	FHL1	HP:0011712	Complete right bundle branch block	1/14	OMIM:300695
2273	FHL1	HP:0008141	Dislocation of toes	1/3	OMIM:300280
2273	FHL1	HP:0009473	Joint contracture of the hand	-	OMIM:300280
2273	FHL1	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:98863
2273	FHL1	HP:0003458	EMG: myopathic abnormalities	7/8	OMIM:300696
2273	FHL1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98863
2273	FHL1	HP:0003418	Back pain	9/9	OMIM:300696
2273	FHL1	HP:0003418	Back pain	HP:0040282	ORPHA:98863
2273	FHL1	HP:0003596	Middle age onset	2/14	OMIM:300695
2273	FHL1	HP:0003593	Infantile onset	1/2	OMIM:300280
2273	FHL1	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:300696
2273	FHL1	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:300718
2273	FHL1	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:300717
2273	FHL1	HP:0430028	Hyperplasia of the maxilla	2/3	OMIM:300280
2273	FHL1	HP:0003691	Scapular winging	9/9	OMIM:300696
2273	FHL1	HP:0003691	Scapular winging	-	OMIM:300695
2273	FHL1	HP:0003691	Scapular winging	HP:0040282	ORPHA:98863
2273	FHL1	HP:0002359	Frequent falls	-	OMIM:300718
2273	FHL1	HP:0003676	Progressive	-	OMIM:300696
2273	FHL1	HP:0003678	Rapidly progressive	-	OMIM:300718
2273	FHL1	HP:0003678	Rapidly progressive	-	OMIM:300717
2273	FHL1	HP:0003621	Juvenile onset	1/1	OMIM:300718
2273	FHL1	HP:0009054	Scapuloperoneal myopathy	-	OMIM:300695
2273	FHL1	HP:0009046	Difficulty running	1/1	OMIM:300718
2273	FHL1	HP:0009027	Foot dorsiflexor weakness	13/13	OMIM:300695
2273	FHL1	HP:0000664	Synophrys	2/3	OMIM:300280
2273	FHL1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/3	OMIM:300280
2273	FHL1	HP:0003089	Hamstring contractures	9/9	OMIM:300696
2273	FHL1	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:98863
2273	FHL1	HP:0011463	Childhood onset	2/2	OMIM:300717
2273	FHL1	HP:0011463	Childhood onset	1/2	OMIM:300280
2273	FHL1	HP:0011462	Young adult onset	9/9	OMIM:300696
2273	FHL1	HP:0011462	Young adult onset	12/14	OMIM:300695
2273	FHL1	HP:0009125	Lipodystrophy	HP:0040283	ORPHA:98863
2273	FHL1	HP:0011421	Death in adolescence	1/2	OMIM:300717
2273	FHL1	HP:0003198	Myopathy	HP:0040281	ORPHA:98863
2273	FHL1	HP:0000912	Sprengel anomaly	HP:0040282	ORPHA:98863
2273	FHL1	HP:0003141	Increased LDL cholesterol concentration	HP:0040282	ORPHA:98863
2273	FHL1	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:300718
2273	FHL1	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:300717
2273	FHL1	HP:0003236	Elevated circulating creatine kinase concentration	9/9	OMIM:300696
2273	FHL1	HP:0003236	Elevated circulating creatine kinase concentration	8/8	OMIM:300695
2273	FHL1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:98863
2273	FHL1	HP:0003236	Elevated circulating creatine kinase concentration	1/3	OMIM:300280
2273	FHL1	HP:0003202	Skeletal muscle atrophy	9/9	OMIM:300696
2273	FHL1	HP:0003202	Skeletal muscle atrophy	-	OMIM:300695
2273	FHL1	HP:0034394	Forearm supination contracture	2/14	OMIM:300695
2273	FHL1	HP:0034320	Muscle fiber intracytoplasmic reducing inclusion bodies	2/2	OMIM:300718
2273	FHL1	HP:0034320	Muscle fiber intracytoplasmic reducing inclusion bodies	2/2	OMIM:300717
2273	FHL1	HP:0008064	Ichthyosis	HP:0040283	ORPHA:98863
2273	FHL1	HP:0011675	Arrhythmia	1/9	OMIM:300696
2273	FHL1	HP:0000278	Retrognathia	2/3	OMIM:300280
2273	FHL1	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:98863
2273	FHL1	HP:0002808	Kyphosis	-	OMIM:300718
2273	FHL1	HP:0002808	Kyphosis	HP:0040283	ORPHA:98863
2273	FHL1	HP:0002808	Kyphosis	-	OMIM:300280
2273	FHL1	HP:0006380	Knee flexion contracture	1/14	OMIM:300695
2273	FHL1	HP:0000244	Brachyturricephaly	1/3	OMIM:300280
2273	FHL1	HP:0002878	Respiratory failure	1/2	OMIM:300717
2273	FHL1	HP:0000232	Everted lower lip vermilion	3/3	OMIM:300280
2273	FHL1	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:98863
2273	FHL1	HP:0001513	Obesity	HP:0040283	ORPHA:98863
2273	FHL1	HP:0012385	Camptodactyly	3/3	OMIM:300280
2273	FHL1	HP:0001605	Vocal cord paralysis	HP:0040284	ORPHA:98863
2273	FHL1	HP:0002910	Elevated circulating hepatic transaminase concentration	1/3	OMIM:300280
2273	FHL1	HP:0005155	Ventricular escape rhythm	HP:0040284	ORPHA:98863
2273	FHL1	HP:0000358	Posteriorly rotated ears	-	OMIM:300280
2273	FHL1	HP:0000369	Low-set ears	-	OMIM:300280
2273	FHL1	HP:0030117	Absent muscle fiber emerin	HP:0040282	ORPHA:98863
2273	FHL1	HP:0000339	Pugilistic facies	3/3	OMIM:300280
2273	FHL1	HP:0000336	Prominent supraorbital ridges	2/3	OMIM:300280
2273	FHL1	HP:0002996	Limited elbow movement	-	OMIM:300280
2273	FHL1	HP:0001678	Atrioventricular block	HP:0040283	ORPHA:98863
2273	FHL1	HP:0001645	Sudden cardiac death	HP:0040284	ORPHA:98863
2273	FHL1	HP:0001644	Dilated cardiomyopathy	1/2	OMIM:300718
2273	FHL1	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:98863
2273	FHL1	HP:0001653	Mitral regurgitation	2/3	OMIM:300280
2273	FHL1	HP:0001621	Weak voice	3/3	OMIM:300280
2273	FHL1	HP:0001640	Cardiomegaly	1/3	OMIM:300280
2273	FHL1	HP:0001639	Hypertrophic cardiomyopathy	4/7	OMIM:300696
2273	FHL1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:98863
2273	FHL1	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:300280
2273	FHL1	HP:0001638	Cardiomyopathy	-	OMIM:300280
2273	FHL1	HP:0001712	Left ventricular hypertrophy	2/3	OMIM:300280
2273	FHL1	HP:0001714	Ventricular hypertrophy	-	OMIM:300280
2273	FHL1	HP:0012471	Thick vermilion border	1/3	OMIM:300280
2273	FHL1	HP:0000494	Downslanted palpebral fissures	2/3	OMIM:300280
2273	FHL1	HP:0000475	Broad neck	1/3	OMIM:300280
2273	FHL1	HP:0000470	Short neck	-	OMIM:300718
2273	FHL1	HP:0000470	Short neck	9/9	OMIM:300696
2273	FHL1	HP:0000470	Short neck	HP:0040282	ORPHA:98863
2273	FHL1	HP:0001771	Achilles tendon contracture	9/9	OMIM:300696
2273	FHL1	HP:0001771	Achilles tendon contracture	1/14	OMIM:300695
2273	FHL1	HP:0001771	Achilles tendon contracture	HP:0040283	ORPHA:98863
2273	FHL1	HP:0000448	Prominent nose	-	OMIM:300280
2273	FHL1	HP:0000445	Wide nose	2/3	OMIM:300280
2273	FHL1	HP:0001762	Talipes equinovarus	1/3	OMIM:300280
2273	FHL1	HP:0001761	Pes cavus	2/3	OMIM:300280
2273	FHL1	HP:0006785	Limb-girdle muscular dystrophy	HP:0040281	ORPHA:98863
2273	FHL1	HP:0001822	Hallux valgus	3/3	OMIM:300280
2273	FHL1	HP:0001821	Broad nail	-	OMIM:300280
2273	FHL1	HP:0000508	Ptosis	HP:0040283	ORPHA:98863
2273	FHL1	HP:0001836	Camptodactyly of toe	-	OMIM:300280
2273	FHL1	HP:0000574	Thick eyebrow	2/3	OMIM:300280
2274	FHL2	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
2274	FHL2	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
2274	FHL2	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
2274	FHL2	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
2274	FHL2	HP:0003198	Myopathy	HP:0040283	ORPHA:154
2274	FHL2	HP:0000969	Edema	HP:0040282	ORPHA:154
2274	FHL2	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
2274	FHL2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
2274	FHL2	HP:0012378	Fatigue	HP:0040282	ORPHA:154
2274	FHL2	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
2274	FHL2	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
2274	FHL2	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
2274	FHL2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
2289	FKBP5	HP:0010982	Polygenic inheritance	-	OMIM:608516
2289	FKBP5	HP:0000716	Depression	-	OMIM:608516
2290	FOXG1	HP:0003781	Excessive salivation	HP:0040282	ORPHA:261144
2290	FOXG1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:261144
2290	FOXG1	HP:0010864	Intellectual disability, severe	11/11	OMIM:613454
2290	FOXG1	HP:0009879	Simplified gyral pattern	11/11	OMIM:613454
2290	FOXG1	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0003745	Sporadic	-	OMIM:613454
2290	FOXG1	HP:0003763	Bruxism	8/12	OMIM:613454
2290	FOXG1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
2290	FOXG1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
2290	FOXG1	HP:0001290	Generalized hypotonia	10/10	OMIM:613454
2290	FOXG1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:261144
2290	FOXG1	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0001270	Motor delay	-	OMIM:613454
2290	FOXG1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0001250	Seizure	8/10	OMIM:613454
2290	FOXG1	HP:0001250	Seizure	HP:0040282	ORPHA:442835
2290	FOXG1	HP:0001250	Seizure	HP:0040282	ORPHA:261144
2290	FOXG1	HP:0001252	Hypotonia	4/4	OMIM:613454
2290	FOXG1	HP:0001252	Hypotonia	HP:0040281	ORPHA:261144
2290	FOXG1	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
2290	FOXG1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
2290	FOXG1	HP:0001263	Global developmental delay	15/15	OMIM:613454
2290	FOXG1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
2290	FOXG1	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0001257	Spasticity	7/9	OMIM:613454
2290	FOXG1	HP:0007359	Focal-onset seizure	4/4	OMIM:613454
2290	FOXG1	HP:0007333	Hypoplasia of the frontal lobes	4/4	OMIM:613454
2290	FOXG1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
2290	FOXG1	HP:0025336	Delayed ability to sit	14/14	OMIM:613454
2290	FOXG1	HP:0001332	Dystonia	-	OMIM:613454
2290	FOXG1	HP:0001344	Absent speech	HP:0040281	ORPHA:261144
2290	FOXG1	HP:0001344	Absent speech	11/11	OMIM:613454
2290	FOXG1	HP:0001337	Tremor	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613454
2290	FOXG1	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0001302	Pachygyria	3/11	OMIM:613454
2290	FOXG1	HP:0002650	Scoliosis	HP:0040282	ORPHA:261144
2290	FOXG1	HP:0002650	Scoliosis	-	OMIM:613454
2290	FOXG1	HP:0001319	Neonatal hypotonia	-	OMIM:613454
2290	FOXG1	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0000158	Macroglossia	HP:0040282	ORPHA:261144
2290	FOXG1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:261144
2290	FOXG1	HP:0002020	Gastroesophageal reflux	9/10	OMIM:613454
2290	FOXG1	HP:0002019	Constipation	-	OMIM:613454
2290	FOXG1	HP:0011800	Midface retrusion	-	OMIM:613454
2290	FOXG1	HP:0100540	Palpebral edema	HP:0040282	ORPHA:261144
2290	FOXG1	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0002079	Hypoplasia of the corpus callosum	13/15	OMIM:613454
2290	FOXG1	HP:0002072	Chorea	-	OMIM:613454
2290	FOXG1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
2290	FOXG1	HP:0002188	Delayed CNS myelination	1/4	OMIM:613454
2290	FOXG1	HP:0002186	Apraxia	-	OMIM:613454
2290	FOXG1	HP:0003593	Infantile onset	2/4	OMIM:613454
2290	FOXG1	HP:0100703	Tongue thrusting	-	OMIM:613454
2290	FOXG1	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0009738	Abnormal antihelix morphology	HP:0040281	ORPHA:261144
2290	FOXG1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:261144
2290	FOXG1	HP:0011968	Feeding difficulties	12/15	OMIM:613454
2290	FOXG1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0002360	Sleep abnormality	3/4	OMIM:613454
2290	FOXG1	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
2290	FOXG1	HP:0002376	Developmental regression	11/14	OMIM:613454
2290	FOXG1	HP:0002376	Developmental regression	HP:0040281	ORPHA:261144
2290	FOXG1	HP:0002353	EEG abnormality	3/4	OMIM:613454
2290	FOXG1	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
2290	FOXG1	HP:0100660	Dyskinesia	-	OMIM:613454
2290	FOXG1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0010804	Tented upper lip vermilion	HP:0040281	ORPHA:261144
2290	FOXG1	HP:0003623	Neonatal onset	2/4	OMIM:613454
2290	FOXG1	HP:0002307	Drooling	-	OMIM:613454
2290	FOXG1	HP:0002305	Athetosis	-	OMIM:613454
2290	FOXG1	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
2290	FOXG1	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0004322	Short stature	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0031936	Delayed ability to walk	14/14	OMIM:613454
2290	FOXG1	HP:0000737	Irritability	5/10	OMIM:613454
2290	FOXG1	HP:0000733	Motor stereotypy	9/12	OMIM:613454
2290	FOXG1	HP:0000733	Motor stereotypy	HP:0040281	ORPHA:261144
2290	FOXG1	HP:0000750	Delayed speech and language development	4/4	OMIM:613454
2290	FOXG1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
2290	FOXG1	HP:0000717	Autism	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
2290	FOXG1	HP:0012760	Reduced social responsiveness	10/10	OMIM:613454
2290	FOXG1	HP:0003196	Short nose	HP:0040282	ORPHA:261144
2290	FOXG1	HP:0000817	Reduced eye contact	-	OMIM:613454
2290	FOXG1	HP:0000286	Epicanthus	HP:0040281	ORPHA:261144
2290	FOXG1	HP:0002808	Kyphosis	HP:0040282	ORPHA:261144
2290	FOXG1	HP:0002808	Kyphosis	-	OMIM:613454
2290	FOXG1	HP:0000253	Progressive microcephaly	9/9	OMIM:613454
2290	FOXG1	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0000252	Microcephaly	HP:0040281	ORPHA:261144
2290	FOXG1	HP:0000219	Thin upper lip vermilion	-	OMIM:613454
2290	FOXG1	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:261144
2290	FOXG1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
2290	FOXG1	HP:0002835	Aspiration	6/10	OMIM:613454
2290	FOXG1	HP:0001510	Growth delay	HP:0040281	ORPHA:261144
2290	FOXG1	HP:0000348	High forehead	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0000319	Smooth philtrum	HP:0040282	ORPHA:261144
2290	FOXG1	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:261144
2290	FOXG1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:261144
2290	FOXG1	HP:0005280	Depressed nasal bridge	-	OMIM:613454
2290	FOXG1	HP:0030215	Inappropriate crying	6/10	OMIM:613454
2290	FOXG1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:261144
2290	FOXG1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0001763	Pes planus	-	OMIM:613454
2290	FOXG1	HP:0000414	Bulbous nose	-	OMIM:613454
2290	FOXG1	HP:0000414	Bulbous nose	HP:0040281	ORPHA:261144
2290	FOXG1	HP:0000411	Protruding ear	-	OMIM:613454
2290	FOXG1	HP:0000411	Protruding ear	HP:0040281	ORPHA:261144
2290	FOXG1	HP:0001762	Talipes equinovarus	-	OMIM:613454
2290	FOXG1	HP:0005487	Prominent metopic ridge	HP:0040282	ORPHA:261144
2290	FOXG1	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
2290	FOXG1	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
2290	FOXG1	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:261144
2290	FOXG1	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
2290	FOXG1	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
2294	FOXF1	HP:0010955	Dilatation of the bladder	2/14	OMIM:265380
2294	FOXF1	HP:0010946	Dilatation of the renal pelvis	3/14	OMIM:265380
2294	FOXF1	HP:0001195	Single umbilical artery	7/37	OMIM:265380
2294	FOXF1	HP:0001195	Single umbilical artery	HP:0040283	ORPHA:210122
2294	FOXF1	HP:0010882	Pulmonary valve atresia	1/37	OMIM:265380
2294	FOXF1	HP:0010882	Pulmonary valve atresia	HP:0040283	ORPHA:210122
2294	FOXF1	HP:0002580	Volvulus	HP:0040283	ORPHA:210122
2294	FOXF1	HP:0001252	Hypotonia	1/37	OMIM:265380
2294	FOXF1	HP:0001263	Global developmental delay	1/14	OMIM:265380
2294	FOXF1	HP:0002575	Tracheoesophageal fistula	1/14	OMIM:265380
2294	FOXF1	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:210122
2294	FOXF1	HP:0002566	Intestinal malrotation	11/51	OMIM:265380
2294	FOXF1	HP:0002566	Intestinal malrotation	HP:0040282	ORPHA:210122
2294	FOXF1	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:210122
2294	FOXF1	HP:0003811	Neonatal death	10/13	OMIM:265380
2294	FOXF1	HP:0000072	Hydroureter	6/51	OMIM:265380
2294	FOXF1	HP:0000047	Hypospadias	2/37	OMIM:265380
2294	FOXF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:265380
2294	FOXF1	HP:0002643	Neonatal respiratory distress	-	OMIM:265380
2294	FOXF1	HP:0000175	Cleft palate	1/37	OMIM:265380
2294	FOXF1	HP:0410030	Cleft lip	1/37	OMIM:265380
2294	FOXF1	HP:0000126	Hydronephrosis	13/51	OMIM:265380
2294	FOXF1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:210122
2294	FOXF1	HP:0002023	Anal atresia	3/37	OMIM:265380
2294	FOXF1	HP:0002023	Anal atresia	HP:0040283	ORPHA:210122
2294	FOXF1	HP:0002032	Esophageal atresia	1/14	OMIM:265380
2294	FOXF1	HP:0003316	Butterfly vertebrae	2/37	OMIM:265380
2294	FOXF1	HP:0033186	Misalignment of the pulmonary veins	44/51	OMIM:265380
2294	FOXF1	HP:0002098	Respiratory distress	HP:0040281	ORPHA:210122
2294	FOXF1	HP:0002092	Pulmonary arterial hypertension	1/14	OMIM:265380
2294	FOXF1	HP:0002092	Pulmonary arterial hypertension	HP:0040281	ORPHA:210122
2294	FOXF1	HP:0003396	Syringomyelia	1/14	OMIM:265380
2294	FOXF1	HP:0010444	Pulmonic regurgitation	-	OMIM:265380
2294	FOXF1	HP:0003468	Abnormal vertebral morphology	HP:0040283	ORPHA:210122
2294	FOXF1	HP:0002119	Ventriculomegaly	1/14	OMIM:265380
2294	FOXF1	HP:0002101	Abnormal lung lobation	-	OMIM:265380
2294	FOXF1	HP:0002190	Choroid plexus cyst	1/37	OMIM:265380
2294	FOXF1	HP:0033208	Alveolar capillary dysplasia	44/51	OMIM:265380
2294	FOXF1	HP:0002245	Meckel diverticulum	1/14	OMIM:265380
2294	FOXF1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:210122
2294	FOXF1	HP:0002247	Duodenal atresia	4/51	OMIM:265380
2294	FOXF1	HP:0002202	Pleural effusion	1/37	OMIM:265380
2294	FOXF1	HP:0010773	Partial anomalous pulmonary venous return	1/14	OMIM:265380
2294	FOXF1	HP:0002308	Chiari malformation	1/14	OMIM:265380
2294	FOXF1	HP:0004927	Pulmonary artery dilatation	2/51	OMIM:265380
2294	FOXF1	HP:0004383	Hypoplastic left heart	5/37	OMIM:265380
2294	FOXF1	HP:0004383	Hypoplastic left heart	HP:0040282	ORPHA:210122
2294	FOXF1	HP:0011467	Absent gallbladder	HP:0040283	ORPHA:210122
2294	FOXF1	HP:0030732	Dysplastic tricuspid valve	1/37	OMIM:265380
2294	FOXF1	HP:0004415	Pulmonary artery stenosis	2/37	OMIM:265380
2294	FOXF1	HP:0000913	Posterior rib fusion	1/37	OMIM:265380
2294	FOXF1	HP:0000813	Bicornuate uterus	2/37	OMIM:265380
2294	FOXF1	HP:0011571	Parachute mitral valve	1/37	OMIM:265380
2294	FOXF1	HP:0030889	Congenital shortened small intestine	1/14	OMIM:265380
2294	FOXF1	HP:0011611	Interrupted aortic arch	1/37	OMIM:265380
2294	FOXF1	HP:0000278	Retrognathia	1/37	OMIM:265380
2294	FOXF1	HP:0000248	Brachycephaly	2/51	OMIM:265380
2294	FOXF1	HP:0001561	Polyhydramnios	1/37	OMIM:265380
2294	FOXF1	HP:0001540	Diastasis recti	1/14	OMIM:265380
2294	FOXF1	HP:0001539	Omphalocele	1/14	OMIM:265380
2294	FOXF1	HP:0006521	Pulmonary lymphangiectasia	1/14	OMIM:265380
2294	FOXF1	HP:0001694	Right-to-left shunt	12/47	OMIM:265380
2294	FOXF1	HP:0000369	Low-set ears	1/14	OMIM:265380
2294	FOXF1	HP:0001667	Right ventricular hypertrophy	2/37	OMIM:265380
2294	FOXF1	HP:0001680	Coarctation of aorta	3/37	OMIM:265380
2294	FOXF1	HP:0000347	Micrognathia	1/14	OMIM:265380
2294	FOXF1	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:210122
2294	FOXF1	HP:0012304	Hypoplastic aortic arch	2/37	OMIM:265380
2294	FOXF1	HP:0001647	Bicuspid aortic valve	4/51	OMIM:265380
2294	FOXF1	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:210122
2294	FOXF1	HP:0000316	Hypertelorism	1/37	OMIM:265380
2294	FOXF1	HP:0001643	Patent ductus arteriosus	22/51	OMIM:265380
2294	FOXF1	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:210122
2294	FOXF1	HP:0001655	Patent foramen ovale	3/37	OMIM:265380
2294	FOXF1	HP:0001629	Ventricular septal defect	5/37	OMIM:265380
2294	FOXF1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:210122
2294	FOXF1	HP:0001636	Tetralogy of Fallot	2/37	OMIM:265380
2294	FOXF1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:210122
2294	FOXF1	HP:0001631	Atrial septal defect	4/37	OMIM:265380
2294	FOXF1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:210122
2294	FOXF1	HP:0005301	Persistent left superior vena cava	3/37	OMIM:265380
2294	FOXF1	HP:0006695	Atrioventricular canal defect	6/37	OMIM:265380
2294	FOXF1	HP:0006695	Atrioventricular canal defect	HP:0040283	ORPHA:210122
2294	FOXF1	HP:0001734	Annular pancreas	4/37	OMIM:265380
2294	FOXF1	HP:0001734	Annular pancreas	HP:0040283	ORPHA:210122
2294	FOXF1	HP:0000476	Cystic hygroma	2/37	OMIM:265380
2294	FOXF1	HP:0000490	Deeply set eye	2/37	OMIM:265380
2294	FOXF1	HP:0001790	Nonimmune hydrops fetalis	2/37	OMIM:265380
2294	FOXF1	HP:0000474	Thickened nuchal skin fold	1/37	OMIM:265380
2294	FOXF1	HP:0001746	Asplenia	1/37	OMIM:265380
2294	FOXF1	HP:0001746	Asplenia	HP:0040283	ORPHA:210122
2296	FOXC1	HP:0009918	Ectopia pupillae	2/5	OMIM:601631
2296	FOXC1	HP:0009918	Ectopia pupillae	9/9	OMIM:602482
2296	FOXC1	HP:0000047	Hypospadias	HP:0040283	ORPHA:782
2296	FOXC1	HP:0031159	Thinning of Descemet membrane	HP:0040281	ORPHA:708
2296	FOXC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:602482
2296	FOXC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:601631
2296	FOXC1	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:602482
2296	FOXC1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	OMIM:601631
2296	FOXC1	HP:0001492	Axenfeld anomaly	1/5	OMIM:601631
2296	FOXC1	HP:0007676	Hypoplasia of the iris	HP:0040281	ORPHA:250923
2296	FOXC1	HP:0007676	Hypoplasia of the iris	9/9	OMIM:602482
2296	FOXC1	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:250923
2296	FOXC1	HP:0002025	Anal stenosis	HP:0040283	ORPHA:782
2296	FOXC1	HP:0011800	Midface retrusion	-	OMIM:602482
2296	FOXC1	HP:0011800	Midface retrusion	HP:0040282	ORPHA:782
2296	FOXC1	HP:0030961	Microspherophakia	HP:0040284	ORPHA:250923
2296	FOXC1	HP:0003593	Infantile onset	1/4	OMIM:601631
2296	FOXC1	HP:0003577	Congenital onset	1/4	OMIM:601631
2296	FOXC1	HP:0100719	Lens coloboma	HP:0040284	ORPHA:250923
2296	FOXC1	HP:0002280	Enlarged cisterna magna	HP:0040283	OMIM:601631
2296	FOXC1	HP:0001097	Keratoconjunctivitis sicca	HP:0040282	ORPHA:250923
2296	FOXC1	HP:0001087	Developmental glaucoma	HP:0040282	ORPHA:708
2296	FOXC1	HP:0001083	Ectopia lentis	HP:0040282	ORPHA:250923
2296	FOXC1	HP:0003621	Juvenile onset	1/4	OMIM:601631
2296	FOXC1	HP:0032107	Limbal stem cell deficiency	HP:0040282	ORPHA:250923
2296	FOXC1	HP:0000639	Nystagmus	HP:0040284	ORPHA:708
2296	FOXC1	HP:0000639	Nystagmus	HP:0040281	ORPHA:250923
2296	FOXC1	HP:0000642	Red-green dyschromatopsia	HP:0040282	ORPHA:250923
2296	FOXC1	HP:0000613	Photophobia	HP:0040283	ORPHA:250923
2296	FOXC1	HP:0000627	Posterior embryotoxon	HP:0040281	ORPHA:782
2296	FOXC1	HP:0000627	Posterior embryotoxon	5/5	OMIM:601631
2296	FOXC1	HP:0000627	Posterior embryotoxon	9/9	OMIM:602482
2296	FOXC1	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:250923
2296	FOXC1	HP:0030468	Abnormal multifocal electroretinogram	HP:0040282	ORPHA:250923
2296	FOXC1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:250923
2296	FOXC1	HP:0000691	Microdontia	HP:0040283	ORPHA:782
2296	FOXC1	HP:0000691	Microdontia	4/9	OMIM:602482
2296	FOXC1	HP:0000659	Peters anomaly	HP:0040282	ORPHA:250923
2296	FOXC1	HP:0000659	Peters anomaly	HP:0040280	ORPHA:708
2296	FOXC1	HP:0000659	Peters anomaly	1/5	OMIM:601631
2296	FOXC1	HP:0000668	Hypodontia	HP:0040283	ORPHA:782
2296	FOXC1	HP:0000668	Hypodontia	-	OMIM:602482
2296	FOXC1	HP:0030622	Abnormal foveal pit on macular OCT	HP:0040282	ORPHA:250923
2296	FOXC1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:782
2296	FOXC1	HP:0011493	Central opacification of the cornea	HP:0040281	ORPHA:708
2296	FOXC1	HP:0011496	Corneal neovascularization	HP:0040282	ORPHA:250923
2296	FOXC1	HP:0011484	Posterior synechiae of the anterior chamber	2/6	OMIM:602482
2296	FOXC1	HP:0011483	Anterior synechiae of the anterior chamber	HP:0040281	ORPHA:708
2296	FOXC1	HP:0011462	Young adult onset	1/4	OMIM:601631
2296	FOXC1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:782
2296	FOXC1	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040281	ORPHA:782
2296	FOXC1	HP:0008059	Aplasia/Hypoplasia of the macula	HP:0040281	ORPHA:250923
2296	FOXC1	HP:0000272	Malar flattening	4/9	OMIM:602482
2296	FOXC1	HP:0007759	Opacification of the corneal stroma	HP:0040281	ORPHA:708
2296	FOXC1	HP:0007750	Hypoplasia of the fovea	HP:0040281	ORPHA:250923
2296	FOXC1	HP:0001582	Redundant skin	HP:0040283	ORPHA:782
2296	FOXC1	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:782
2296	FOXC1	HP:0001510	Growth delay	HP:0040283	ORPHA:782
2296	FOXC1	HP:0007894	Hypopigmentation of the fundus	HP:0040282	ORPHA:250923
2296	FOXC1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:782
2296	FOXC1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:782
2296	FOXC1	HP:0000316	Hypertelorism	5/9	OMIM:602482
2296	FOXC1	HP:0001643	Patent ductus arteriosus	-	OMIM:602482
2296	FOXC1	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:782
2296	FOXC1	HP:0001631	Atrial septal defect	-	OMIM:602482
2296	FOXC1	HP:0007957	Corneal opacity	HP:0040282	ORPHA:250923
2296	FOXC1	HP:0007905	Abnormal iris vasculature	-	OMIM:601631
2296	FOXC1	HP:0007990	Hypoplastic iris stroma	2/5	OMIM:601631
2296	FOXC1	HP:0000407	Sensorineural hearing impairment	-	OMIM:602482
2296	FOXC1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:782
2296	FOXC1	HP:0000486	Strabismus	HP:0040284	ORPHA:708
2296	FOXC1	HP:0000486	Strabismus	HP:0040282	ORPHA:250923
2296	FOXC1	HP:0011120	Concave nasal ridge	-	OMIM:602482
2296	FOXC1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:782
2296	FOXC1	HP:0000518	Cataract	HP:0040282	ORPHA:250923
2296	FOXC1	HP:0000526	Aniridia	HP:0040281	ORPHA:250923
2296	FOXC1	HP:0000520	Proptosis	-	OMIM:602482
2296	FOXC1	HP:0000523	Subcapsular cataract	HP:0040281	ORPHA:708
2296	FOXC1	HP:0000506	Telecanthus	HP:0040283	ORPHA:782
2296	FOXC1	HP:0000508	Ptosis	HP:0040283	ORPHA:250923
2296	FOXC1	HP:0000501	Glaucoma	1/9	OMIM:602482
2296	FOXC1	HP:0000501	Glaucoma	HP:0040282	ORPHA:782
2296	FOXC1	HP:0000501	Glaucoma	HP:0040282	ORPHA:250923
2296	FOXC1	HP:0000501	Glaucoma	1/5	OMIM:601631
2296	FOXC1	HP:0000593	Abnormal anterior chamber morphology	HP:0040281	ORPHA:782
2296	FOXC1	HP:0011220	Prominent forehead	HP:0040283	ORPHA:782
2296	FOXC1	HP:0000558	Rieger anomaly	-	OMIM:601631
2296	FOXC1	HP:0000572	Visual loss	HP:0040281	ORPHA:250923
2296	FOXC1	HP:0000568	Microphthalmia	HP:0040283	ORPHA:250923
2299	FOXI1	HP:0008586	Hypoplasia of the cochlea	HP:0040281	ORPHA:705
2299	FOXI1	HP:0008554	Cochlear malformation	-	OMIM:274600
2299	FOXI1	HP:0001251	Ataxia	HP:0040283	ORPHA:705
2299	FOXI1	HP:0001249	Intellectual disability	-	OMIM:274600
2299	FOXI1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:705
2299	FOXI1	HP:0000007	Autosomal recessive inheritance	-	OMIM:600791
2299	FOXI1	HP:0000007	Autosomal recessive inheritance	-	OMIM:274600
2299	FOXI1	HP:0025484	Increased circulating thyroglobulin concentration	11/14	OMIM:274600
2299	FOXI1	HP:0002777	Tracheal stenosis	HP:0040283	ORPHA:705
2299	FOXI1	HP:0000112	Nephropathy	HP:0040283	ORPHA:705
2299	FOXI1	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:705
2299	FOXI1	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:705
2299	FOXI1	HP:0008223	Compensated hypothyroidism	-	OMIM:274600
2299	FOXI1	HP:0003577	Congenital onset	10/10	OMIM:600791
2299	FOXI1	HP:0002321	Vertigo	HP:0040283	ORPHA:705
2299	FOXI1	HP:0008527	Congenital sensorineural hearing impairment	15/15	OMIM:274600
2299	FOXI1	HP:0011387	Enlarged vestibular aqueduct	3/3	OMIM:600791
2299	FOXI1	HP:0011387	Enlarged vestibular aqueduct	HP:0040281	ORPHA:705
2299	FOXI1	HP:0000853	Goiter	HP:0040282	ORPHA:705
2299	FOXI1	HP:0000853	Goiter	0/10	OMIM:600791
2299	FOXI1	HP:0000853	Goiter	14/15	OMIM:274600
2299	FOXI1	HP:0000843	Hyperparathyroidism	HP:0040283	ORPHA:705
2299	FOXI1	HP:0000821	Hypothyroidism	HP:0040282	ORPHA:705
2299	FOXI1	HP:0002890	Thyroid carcinoma	HP:0040283	ORPHA:705
2299	FOXI1	HP:0002890	Thyroid carcinoma	-	OMIM:274600
2299	FOXI1	HP:0000359	Abnormality of the inner ear	HP:0040281	ORPHA:705
2299	FOXI1	HP:0000376	Incomplete partition of the cochlea type II	0/3	OMIM:600791
2299	FOXI1	HP:0000407	Sensorineural hearing impairment	10/10	OMIM:600791
2299	FOXI1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:705
2299	FOXI1	HP:0001751	Abnormal vestibular function	-	OMIM:274600
2300	FOXL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620576
2300	FOXL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
2300	FOXL1	HP:0008529	Absence of acoustic reflex	-	OMIM:620576
2300	FOXL1	HP:0003621	Juvenile onset	2/8	OMIM:620576
2300	FOXL1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
2300	FOXL1	HP:0011462	Young adult onset	6/8	OMIM:620576
2300	FOXL1	HP:0004467	Preauricular pit	-	OMIM:187500
2300	FOXL1	HP:0000362	Otosclerosis	-	OMIM:620576
2300	FOXL1	HP:0000337	Broad forehead	-	OMIM:187500
2300	FOXL1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
2300	FOXL1	HP:0000407	Sensorineural hearing impairment	4/8	OMIM:620576
2300	FOXL1	HP:0000405	Conductive hearing impairment	5/8	OMIM:620576
2300	FOXL1	HP:0000520	Proptosis	-	OMIM:187500
2301	FOXE3	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
2301	FOXE3	HP:0001297	Stroke	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0003829	Typified by incomplete penetrance	-	OMIM:617349
2301	FOXE3	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0031159	Thinning of Descemet membrane	HP:0040281	ORPHA:708
2301	FOXE3	HP:0000007	Autosomal recessive inheritance	-	OMIM:610256
2301	FOXE3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
2301	FOXE3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
2301	FOXE3	HP:0000006	Autosomal dominant inheritance	-	OMIM:617349
2301	FOXE3	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
2301	FOXE3	HP:0007663	Reduced visual acuity	8/8	OMIM:610256
2301	FOXE3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
2301	FOXE3	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0100583	Corneal perforation	HP:0040283	ORPHA:83461
2301	FOXE3	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0003577	Congenital onset	3/7	OMIM:610256
2301	FOXE3	HP:0003581	Adult onset	-	OMIM:617349
2301	FOXE3	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
2301	FOXE3	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
2301	FOXE3	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
2301	FOXE3	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0001087	Developmental glaucoma	HP:0040281	ORPHA:83461
2301	FOXE3	HP:0001087	Developmental glaucoma	HP:0040282	ORPHA:708
2301	FOXE3	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0004933	Ascending aortic dissection	7/10	OMIM:617349
2301	FOXE3	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
2301	FOXE3	HP:0003621	Juvenile onset	8/19	OMIM:180100
2301	FOXE3	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0004942	Aortic aneurysm	-	OMIM:617349
2301	FOXE3	HP:0000639	Nystagmus	HP:0040284	ORPHA:708
2301	FOXE3	HP:0000639	Nystagmus	-	OMIM:610256
2301	FOXE3	HP:0000647	Sclerocornea	HP:0040282	ORPHA:83461
2301	FOXE3	HP:0000647	Sclerocornea	-	OMIM:610256
2301	FOXE3	HP:0000662	Nyctalopia	26/28	OMIM:180100
2301	FOXE3	HP:0000659	Peters anomaly	HP:0040280	ORPHA:708
2301	FOXE3	HP:0000659	Peters anomaly	1/8	OMIM:610256
2301	FOXE3	HP:0000667	Phthisis bulbi	HP:0040283	ORPHA:83461
2301	FOXE3	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0011493	Central opacification of the cornea	HP:0040281	ORPHA:708
2301	FOXE3	HP:0011484	Posterior synechiae of the anterior chamber	-	OMIM:610256
2301	FOXE3	HP:0011483	Anterior synechiae of the anterior chamber	HP:0040282	ORPHA:83461
2301	FOXE3	HP:0011483	Anterior synechiae of the anterior chamber	HP:0040281	ORPHA:708
2301	FOXE3	HP:0011463	Childhood onset	3/19	OMIM:180100
2301	FOXE3	HP:0011463	Childhood onset	4/7	OMIM:610256
2301	FOXE3	HP:0011462	Young adult onset	8/19	OMIM:180100
2301	FOXE3	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
2301	FOXE3	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
2301	FOXE3	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
2301	FOXE3	HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	HP:0040281	ORPHA:83461
2301	FOXE3	HP:0007707	Congenital aphakia	HP:0040281	ORPHA:83461
2301	FOXE3	HP:0007707	Congenital aphakia	-	OMIM:610256
2301	FOXE3	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0007779	Anterior segment of eye aplasia	-	OMIM:610256
2301	FOXE3	HP:0007759	Opacification of the corneal stroma	HP:0040281	ORPHA:708
2301	FOXE3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
2301	FOXE3	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
2301	FOXE3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
2301	FOXE3	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
2301	FOXE3	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
2301	FOXE3	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
2301	FOXE3	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
2301	FOXE3	HP:0007957	Corneal opacity	7/8	OMIM:610256
2301	FOXE3	HP:0007906	Ocular hypertension	-	OMIM:610256
2301	FOXE3	HP:0012499	Descending aortic dissection	1/10	OMIM:617349
2301	FOXE3	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
2301	FOXE3	HP:0007973	Retinal dysplasia	HP:0040282	ORPHA:83461
2301	FOXE3	HP:0000486	Strabismus	HP:0040284	ORPHA:708
2301	FOXE3	HP:0000482	Microcornea	-	OMIM:610256
2301	FOXE3	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
2301	FOXE3	HP:0000518	Cataract	10/10	OMIM:610256
2301	FOXE3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
2301	FOXE3	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
2301	FOXE3	HP:0000526	Aniridia	HP:0040283	ORPHA:83461
2301	FOXE3	HP:0000526	Aniridia	-	OMIM:610256
2301	FOXE3	HP:0000523	Subcapsular cataract	HP:0040281	ORPHA:708
2301	FOXE3	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:83461
2301	FOXE3	HP:0000575	Scotoma	5/18	OMIM:180100
2301	FOXE3	HP:0000589	Coloboma	-	OMIM:610256
2301	FOXE3	HP:0000588	Optic disc coloboma	HP:0040282	ORPHA:83461
2301	FOXE3	HP:0000568	Microphthalmia	HP:0040281	ORPHA:83461
2301	FOXE3	HP:0000568	Microphthalmia	-	OMIM:610256
2301	FOXE3	HP:0000541	Retinal detachment	HP:0040282	ORPHA:83461
2301	FOXE3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
2301	FOXE3	HP:0000545	Myopia	-	OMIM:180100
2302	FOXJ1	HP:0010953	Noncommunicating hydrocephalus	6/6	OMIM:618699
2302	FOXJ1	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
2302	FOXJ1	HP:0001217	Clubbing	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
2302	FOXJ1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618699
2302	FOXJ1	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
2302	FOXJ1	HP:0002643	Neonatal respiratory distress	4/6	OMIM:618699
2302	FOXJ1	HP:0002783	Recurrent lower respiratory tract infections	6/6	OMIM:618699
2302	FOXJ1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0002788	Recurrent upper respiratory tract infections	6/6	OMIM:618699
2302	FOXJ1	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0031245	Productive cough	HP:0040282	ORPHA:244
2302	FOXJ1	HP:0031245	Productive cough	6/6	OMIM:618699
2302	FOXJ1	HP:0003363	Abdominal situs inversus	3/6	OMIM:618699
2302	FOXJ1	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
2302	FOXJ1	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
2302	FOXJ1	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0002110	Bronchiectasis	6/6	OMIM:618699
2302	FOXJ1	HP:0008222	Female infertility	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
2302	FOXJ1	HP:0002257	Chronic rhinitis	6/6	OMIM:618699
2302	FOXJ1	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
2302	FOXJ1	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
2302	FOXJ1	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
2302	FOXJ1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
2302	FOXJ1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0004467	Preauricular pit	-	OMIM:187500
2302	FOXJ1	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
2302	FOXJ1	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
2302	FOXJ1	HP:0030828	Wheezing	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0003251	Male infertility	HP:0040282	ORPHA:244
2302	FOXJ1	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
2302	FOXJ1	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
2302	FOXJ1	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
2302	FOXJ1	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
2302	FOXJ1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
2302	FOXJ1	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
2302	FOXJ1	HP:0000337	Broad forehead	-	OMIM:187500
2302	FOXJ1	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
2302	FOXJ1	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
2302	FOXJ1	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
2302	FOXJ1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
2302	FOXJ1	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
2302	FOXJ1	HP:0011109	Chronic sinusitis	6/6	OMIM:618699
2302	FOXJ1	HP:0001746	Asplenia	HP:0040284	ORPHA:244
2302	FOXJ1	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
2302	FOXJ1	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
2302	FOXJ1	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
2302	FOXJ1	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
2302	FOXJ1	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
2302	FOXJ1	HP:0000520	Proptosis	-	OMIM:187500
2303	FOXC2	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:33001
2303	FOXC2	HP:0000093	Proteinuria	HP:0040283	ORPHA:33001
2303	FOXC2	HP:0000075	Renal duplication	HP:0040283	ORPHA:33001
2303	FOXC2	HP:0001324	Muscle weakness	HP:0040282	ORPHA:33001
2303	FOXC2	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:33001
2303	FOXC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
2303	FOXC2	HP:0002619	Varicose veins	HP:0040282	ORPHA:33001
2303	FOXC2	HP:0002619	Varicose veins	-	OMIM:153400
2303	FOXC2	HP:0000175	Cleft palate	HP:0040283	ORPHA:33001
2303	FOXC2	HP:0000175	Cleft palate	5/39	OMIM:153400
2303	FOXC2	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
2303	FOXC2	HP:0003550	Predominantly lower limb lymphedema	HP:0040281	ORPHA:33001
2303	FOXC2	HP:0009743	Distichiasis	42/42	OMIM:153400
2303	FOXC2	HP:0009743	Distichiasis	HP:0040281	ORPHA:33001
2303	FOXC2	HP:0009745	Spinal arachnoid cyst	HP:0040283	ORPHA:33001
2303	FOXC2	HP:0001004	Lymphedema	-	OMIM:153400
2303	FOXC2	HP:0200020	Corneal erosion	HP:0040281	ORPHA:33001
2303	FOXC2	HP:0100658	Cellulitis	2/6	OMIM:153400
2303	FOXC2	HP:0004930	Abnormality of the pulmonary vasculature	HP:0040283	ORPHA:33001
2303	FOXC2	HP:0001970	Tubulointerstitial nephritis	HP:0040283	ORPHA:33001
2303	FOXC2	HP:0000613	Photophobia	HP:0040281	ORPHA:33001
2303	FOXC2	HP:0000613	Photophobia	10/49	OMIM:153400
2303	FOXC2	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
2303	FOXC2	HP:0000656	Ectropion	HP:0040282	ORPHA:33001
2303	FOXC2	HP:0000656	Ectropion	2/43	OMIM:153400
2303	FOXC2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:33001
2303	FOXC2	HP:0003011	Abnormality of the musculature	-	OMIM:153400
2303	FOXC2	HP:0012804	Corneal ulceration	-	OMIM:153400
2303	FOXC2	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:33001
2303	FOXC2	HP:0010310	Chylothorax	1/6	OMIM:153400
2303	FOXC2	HP:0100244	Fibrosarcoma	HP:0040283	ORPHA:33001
2303	FOXC2	HP:0011675	Arrhythmia	HP:0040283	ORPHA:33001
2303	FOXC2	HP:0011675	Arrhythmia	-	OMIM:153400
2303	FOXC2	HP:0002808	Kyphosis	2/5	OMIM:153400
2303	FOXC2	HP:0001581	Recurrent skin infections	HP:0040283	ORPHA:33001
2303	FOXC2	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:33001
2303	FOXC2	HP:0000204	Cleft upper lip	-	OMIM:153400
2303	FOXC2	HP:0000347	Micrognathia	2/5	OMIM:153400
2303	FOXC2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:33001
2303	FOXC2	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
2303	FOXC2	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
2303	FOXC2	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
2303	FOXC2	HP:0000476	Cystic hygroma	2/43	OMIM:153400
2303	FOXC2	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
2303	FOXC2	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
2303	FOXC2	HP:0000465	Webbed neck	HP:0040283	ORPHA:33001
2303	FOXC2	HP:0000465	Webbed neck	6/43	OMIM:153400
2303	FOXC2	HP:0000518	Cataract	HP:0040282	ORPHA:33001
2303	FOXC2	HP:0000509	Conjunctivitis	HP:0040281	ORPHA:33001
2303	FOXC2	HP:0000509	Conjunctivitis	-	OMIM:153400
2303	FOXC2	HP:0000508	Ptosis	HP:0040282	ORPHA:33001
2303	FOXC2	HP:0000508	Ptosis	2/39	OMIM:153400
2303	FOXC2	HP:0000568	Microphthalmia	1/6	OMIM:153400
2304	FOXE1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:95713
2304	FOXE1	HP:0001254	Lethargy	HP:0040282	ORPHA:95713
2304	FOXE1	HP:0001252	Hypotonia	HP:0040281	ORPHA:95713
2304	FOXE1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1226
2304	FOXE1	HP:0001263	Global developmental delay	2/4	OMIM:241850
2304	FOXE1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:95713
2304	FOXE1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:95713
2304	FOXE1	HP:0002671	Basal cell carcinoma	1/4	OMIM:616534
2304	FOXE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:241850
2304	FOXE1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616534
2304	FOXE1	HP:0002653	Bone pain	HP:0040283	ORPHA:319487
2304	FOXE1	HP:0025483	Abnormal circulating thyroglobulin concentration	HP:0040281	ORPHA:95713
2304	FOXE1	HP:0000158	Macroglossia	HP:0040281	ORPHA:95713
2304	FOXE1	HP:0000175	Cleft palate	7/7	OMIM:241850
2304	FOXE1	HP:0000175	Cleft palate	HP:0040281	ORPHA:1226
2304	FOXE1	HP:0012125	Prostate cancer	1/4	OMIM:616534
2304	FOXE1	HP:0033850	Coldness	HP:0040282	ORPHA:95713
2304	FOXE1	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:319487
2304	FOXE1	HP:0002733	Abnormal lymph node morphology	HP:0040282	ORPHA:319487
2304	FOXE1	HP:0002750	Delayed skeletal maturation	1/1	OMIM:241850
2304	FOXE1	HP:0002730	Chronic noninfectious lymphadenopathy	HP:0040282	ORPHA:319487
2304	FOXE1	HP:0002019	Constipation	HP:0040281	ORPHA:95713
2304	FOXE1	HP:0005994	Nodular goiter	HP:0040281	ORPHA:319487
2304	FOXE1	HP:0008191	Thyroid agenesis	HP:0040281	ORPHA:95713
2304	FOXE1	HP:0008191	Thyroid agenesis	8/9	OMIM:241850
2304	FOXE1	HP:0008191	Thyroid agenesis	HP:0040281	ORPHA:1226
2304	FOXE1	HP:6000244	Decreased circulating thyroglobulin concentration	1/1	OMIM:241850
2304	FOXE1	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:319487
2304	FOXE1	HP:0010564	Bifid epiglottis	2/7	OMIM:241850
2304	FOXE1	HP:0008282	Unconjugated hyperbilirubinemia	HP:0040282	ORPHA:95713
2304	FOXE1	HP:0003577	Congenital onset	7/7	OMIM:241850
2304	FOXE1	HP:0100786	Hypersomnia	1/1	OMIM:241850
2304	FOXE1	HP:0100786	Hypersomnia	HP:0040281	ORPHA:95713
2304	FOXE1	HP:0011968	Feeding difficulties	2/2	OMIM:241850
2304	FOXE1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:95713
2304	FOXE1	HP:0430050	Anti-thyroid antibody positivity	0/2	OMIM:241850
2304	FOXE1	HP:0100615	Ovarian neoplasm	1/4	OMIM:616534
2304	FOXE1	HP:0011362	Abnormal hair quantity	HP:0040281	ORPHA:1226
2304	FOXE1	HP:0004322	Short stature	HP:0040282	ORPHA:95713
2304	FOXE1	HP:0003003	Colon cancer	HP:0040283	ORPHA:319487
2304	FOXE1	HP:0000851	Congenital hypothyroidism	2/2	OMIM:241850
2304	FOXE1	HP:0000851	Congenital hypothyroidism	HP:0040281	ORPHA:1226
2304	FOXE1	HP:0000853	Goiter	-	OMIM:616534
2304	FOXE1	HP:0000853	Goiter	HP:0040282	ORPHA:319487
2304	FOXE1	HP:0000821	Hypothyroidism	7/7	OMIM:241850
2304	FOXE1	HP:0000821	Hypothyroidism	HP:0040281	ORPHA:95713
2304	FOXE1	HP:0004502	Bilateral choanal atresia	2/2	OMIM:241850
2304	FOXE1	HP:0003270	Abdominal distention	HP:0040281	ORPHA:95713
2304	FOXE1	HP:0012288	Neoplasm of head and neck	HP:0040281	ORPHA:319487
2304	FOXE1	HP:0000282	Facial edema	HP:0040282	ORPHA:95713
2304	FOXE1	HP:0000280	Coarse facial features	HP:0040281	ORPHA:95713
2304	FOXE1	HP:0000278	Retrognathia	HP:0040281	ORPHA:1226
2304	FOXE1	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:95713
2304	FOXE1	HP:0000239	Large fontanelles	HP:0040281	ORPHA:95713
2304	FOXE1	HP:0002895	Papillary thyroid carcinoma	3/4	OMIM:616534
2304	FOXE1	HP:0002895	Papillary thyroid carcinoma	HP:0040283	ORPHA:319487
2304	FOXE1	HP:0001561	Polyhydramnios	-	OMIM:241850
2304	FOXE1	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:1226
2304	FOXE1	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:95713
2304	FOXE1	HP:0001510	Growth delay	HP:0040282	ORPHA:95713
2304	FOXE1	HP:0031507	Decreased circulating T4 concentration	5/5	OMIM:241850
2304	FOXE1	HP:0012378	Fatigue	HP:0040281	ORPHA:95713
2304	FOXE1	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:95713
2304	FOXE1	HP:0006528	Chronic lung disease	HP:0040283	ORPHA:319487
2304	FOXE1	HP:0001615	Hoarse cry	HP:0040282	ORPHA:95713
2304	FOXE1	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	2/2	OMIM:241850
2304	FOXE1	HP:0000358	Posteriorly rotated ears	2/7	OMIM:241850
2304	FOXE1	HP:0000369	Low-set ears	1/7	OMIM:241850
2304	FOXE1	HP:0000316	Hypertelorism	1/1	OMIM:241850
2304	FOXE1	HP:0000453	Choanal atresia	2/4	OMIM:241850
2304	FOXE1	HP:0000453	Choanal atresia	HP:0040281	ORPHA:1226
2304	FOXE1	HP:0006731	Follicular thyroid carcinoma	HP:0040281	ORPHA:319487
2304	FOXE1	HP:3000037	Abnormal neck blood vessel morphology	HP:0040281	ORPHA:319487
2304	FOXE1	HP:0006766	Papillary renal cell carcinoma	HP:0040283	ORPHA:319487
2304	FOXE1	HP:0012531	Pain	HP:0040283	ORPHA:319487
2308	FOXO1	HP:0001442	Typified by somatic mosaicism	-	OMIM:268220
2308	FOXO1	HP:0006779	Alveolar rhabdomyosarcoma	-	OMIM:268220
2312	FLG	HP:0001270	Motor delay	HP:0040283	ORPHA:461
2312	FLG	HP:0001249	Intellectual disability	HP:0040284	ORPHA:461
2312	FLG	HP:0033807	Absent keratohyalin granules	1/1	OMIM:146700
2312	FLG	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:461
2312	FLG	HP:0007549	Desquamation of skin soon after birth	HP:0040283	ORPHA:461
2312	FLG	HP:0000007	Autosomal recessive inheritance	-	OMIM:146700
2312	FLG	HP:0000006	Autosomal dominant inheritance	-	OMIM:146700
2312	FLG	HP:0002099	Asthma	HP:0040282	OMIM:146700
2312	FLG	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:461
2312	FLG	HP:0033252	Palmar hyperlinearity	-	OMIM:146700
2312	FLG	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:461
2312	FLG	HP:0032152	Keratosis pilaris	-	OMIM:146700
2312	FLG	HP:0000717	Autism	HP:0040283	ORPHA:461
2312	FLG	HP:0011463	Childhood onset	-	OMIM:146700
2312	FLG	HP:0000958	Dry skin	HP:0040281	ORPHA:461
2312	FLG	HP:0000958	Dry skin	-	OMIM:146700
2312	FLG	HP:0000964	Eczematoid dermatitis	HP:0040282	OMIM:146700
2312	FLG	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:461
2312	FLG	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:461
2312	FLG	HP:0008064	Ichthyosis	-	OMIM:146700
2312	FLG	HP:0008064	Ichthyosis	HP:0040281	ORPHA:461
2312	FLG	HP:0007759	Opacification of the corneal stroma	HP:0040282	ORPHA:461
2313	FLI1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2308
2313	FLI1	HP:0003765	Psoriasiform dermatitis	HP:0040284	OMIM:617443
2313	FLI1	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:2308
2313	FLI1	HP:0009906	Aplasia/Hypoplasia of the earlobes	HP:0040282	ORPHA:2308
2313	FLI1	HP:0002414	Spina bifida	HP:0040283	ORPHA:2308
2313	FLI1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:2308
2313	FLI1	HP:0001250	Seizure	HP:0040283	ORPHA:2308
2313	FLI1	HP:0001250	Seizure	HP:0040283	ORPHA:370348
2313	FLI1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:851
2313	FLI1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2308
2313	FLI1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:370348
2313	FLI1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2308
2313	FLI1	HP:0002574	Episodic abdominal pain	HP:0040283	ORPHA:370348
2313	FLI1	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:2308
2313	FLI1	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:2308
2313	FLI1	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:2308
2313	FLI1	HP:0100849	Neoplasm of the scrotum	HP:0040284	ORPHA:370348
2313	FLI1	HP:0031030	Elevated carcinoma antigen 125 level	HP:0040283	ORPHA:370348
2313	FLI1	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:370348
2313	FLI1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2308
2313	FLI1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:2308
2313	FLI1	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:2308
2313	FLI1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617443
2313	FLI1	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:2308
2313	FLI1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617443
2313	FLI1	HP:0001302	Pachygyria	HP:0040283	ORPHA:2308
2313	FLI1	HP:0002650	Scoliosis	HP:0040283	ORPHA:2308
2313	FLI1	HP:0000174	Abnormal palate morphology	HP:0040283	ORPHA:2308
2313	FLI1	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040284	ORPHA:370348
2313	FLI1	HP:0006254	Elevated circulating alpha-fetoprotein concentration	HP:0040284	ORPHA:370348
2313	FLI1	HP:0000132	Menorrhagia	1/1	OMIM:617443
2313	FLI1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2308
2313	FLI1	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:2308
2313	FLI1	HP:0002019	Constipation	HP:0040282	ORPHA:2308
2313	FLI1	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:370348
2313	FLI1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:2308
2313	FLI1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:2308
2313	FLI1	HP:0002039	Anorexia	HP:0040283	ORPHA:370348
2313	FLI1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:2308
2313	FLI1	HP:0003474	Somatic sensory dysfunction	HP:0040283	ORPHA:370348
2313	FLI1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2308
2313	FLI1	HP:0003418	Back pain	HP:0040283	ORPHA:370348
2313	FLI1	HP:0011932	Abnormal superior cerebellar peduncle morphology	HP:0040284	ORPHA:370348
2313	FLI1	HP:0011877	Increased mean platelet volume	3/3	OMIM:617443
2313	FLI1	HP:0100711	Abnormal thoracic spine morphology	HP:0040283	ORPHA:370348
2313	FLI1	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:2308
2313	FLI1	HP:0003540	Impaired platelet aggregation	-	OMIM:617443
2313	FLI1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:2308
2313	FLI1	HP:0004866	Impaired ADP-induced platelet aggregation	2/2	OMIM:617443
2313	FLI1	HP:0100753	Schizophrenia	HP:0040283	ORPHA:2308
2313	FLI1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:2308
2313	FLI1	HP:0002321	Vertigo	HP:0040283	ORPHA:370348
2313	FLI1	HP:0002315	Headache	HP:0040283	ORPHA:370348
2313	FLI1	HP:0100608	Metrorrhagia	HP:0040283	ORPHA:370348
2313	FLI1	HP:0100615	Ovarian neoplasm	HP:0040283	ORPHA:370348
2313	FLI1	HP:0010784	Uterine neoplasm	HP:0040283	ORPHA:370348
2313	FLI1	HP:0010761	Broad columella	HP:0040282	ORPHA:2308
2313	FLI1	HP:0005528	Bone marrow hypocellularity	HP:0040281	ORPHA:2308
2313	FLI1	HP:0010059	Broad hallux phalanx	HP:0040282	ORPHA:2308
2313	FLI1	HP:0001965	Abnormal scalp morphology	HP:0040283	ORPHA:370348
2313	FLI1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:2308
2313	FLI1	HP:0000625	Eyelid coloboma	HP:0040283	ORPHA:2308
2313	FLI1	HP:0001903	Anemia	HP:0040283	ORPHA:370348
2313	FLI1	HP:0000656	Ectropion	HP:0040283	ORPHA:2308
2313	FLI1	HP:0004322	Short stature	HP:0040282	ORPHA:2308
2313	FLI1	HP:0030692	Brain neoplasm	HP:0040283	ORPHA:370348
2313	FLI1	HP:0004383	Hypoplastic left heart	HP:0040283	ORPHA:2308
2313	FLI1	HP:0004397	Ectopic anus	HP:0040283	ORPHA:2308
2313	FLI1	HP:0004378	Abnormality of the anus	HP:0040283	ORPHA:2308
2313	FLI1	HP:0004429	Recurrent viral infections	HP:0040284	OMIM:617443
2313	FLI1	HP:0003196	Short nose	HP:0040282	ORPHA:2308
2313	FLI1	HP:0000921	Missing ribs	HP:0040282	ORPHA:2308
2313	FLI1	HP:0000826	Precocious puberty	HP:0040284	ORPHA:370348
2313	FLI1	HP:0003270	Abdominal distention	HP:0040283	ORPHA:370348
2313	FLI1	HP:0010302	Spinal cord tumor	HP:0040283	ORPHA:370348
2313	FLI1	HP:0000989	Pruritus	HP:0040283	ORPHA:370348
2313	FLI1	HP:0000952	Jaundice	HP:0040283	ORPHA:370348
2313	FLI1	HP:0000964	Eczematoid dermatitis	HP:0040284	OMIM:617443
2313	FLI1	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:2308
2313	FLI1	HP:0000286	Epicanthus	HP:0040282	ORPHA:2308
2313	FLI1	HP:0001596	Alopecia	HP:0040284	OMIM:617443
2313	FLI1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:2308
2313	FLI1	HP:0030067	Peripheral primitive neuroectodermal neoplasm	HP:0040280	ORPHA:370348
2313	FLI1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:2308
2313	FLI1	HP:0000243	Trigonocephaly	HP:0040283	ORPHA:2308
2313	FLI1	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:370348
2313	FLI1	HP:0001522	Death in infancy	HP:0040283	ORPHA:2308
2313	FLI1	HP:0001541	Ascites	HP:0040283	ORPHA:370348
2313	FLI1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:2308
2313	FLI1	HP:0001510	Growth delay	HP:0040281	ORPHA:2308
2313	FLI1	HP:0031501	Pelvic mass	HP:0040283	ORPHA:370348
2313	FLI1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2308
2313	FLI1	HP:0000343	Long philtrum	HP:0040282	ORPHA:2308
2313	FLI1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:2308
2313	FLI1	HP:0000348	High forehead	HP:0040282	ORPHA:2308
2313	FLI1	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:2308
2313	FLI1	HP:0000319	Smooth philtrum	HP:0040282	ORPHA:2308
2313	FLI1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2308
2313	FLI1	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:2308
2313	FLI1	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:2308
2313	FLI1	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:851
2313	FLI1	HP:0001622	Premature birth	HP:0040282	ORPHA:2308
2313	FLI1	HP:0001734	Annular pancreas	HP:0040283	ORPHA:2308
2313	FLI1	HP:0001733	Pancreatitis	HP:0040283	ORPHA:370348
2313	FLI1	HP:0000486	Strabismus	HP:0040282	ORPHA:2308
2313	FLI1	HP:0000482	Microcornea	HP:0040282	ORPHA:2308
2313	FLI1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:2308
2313	FLI1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2308
2313	FLI1	HP:0000473	Torticollis	HP:0040283	ORPHA:370348
2313	FLI1	HP:0000470	Short neck	HP:0040282	ORPHA:2308
2313	FLI1	HP:0000465	Webbed neck	HP:0040283	ORPHA:2308
2313	FLI1	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:2308
2313	FLI1	HP:0001763	Pes planus	HP:0040282	ORPHA:2308
2313	FLI1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:2308
2313	FLI1	HP:0000518	Cataract	HP:0040283	ORPHA:2308
2313	FLI1	HP:0001847	Long hallux	HP:0040282	ORPHA:2308
2313	FLI1	HP:0000520	Proptosis	HP:0040284	ORPHA:370348
2313	FLI1	HP:0001824	Weight loss	HP:0040283	ORPHA:370348
2313	FLI1	HP:0000508	Ptosis	HP:0040282	ORPHA:2308
2313	FLI1	HP:0001831	Short toe	HP:0040282	ORPHA:2308
2313	FLI1	HP:0001892	Abnormal bleeding	1/3	OMIM:617443
2313	FLI1	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:370348
2313	FLI1	HP:0001863	Toe clinodactyly	HP:0040282	ORPHA:2308
2313	FLI1	HP:0001883	Talipes	HP:0040283	ORPHA:2308
2313	FLI1	HP:0012513	Upper limb pain	HP:0040283	ORPHA:370348
2313	FLI1	HP:0001873	Thrombocytopenia	6/9	OMIM:617443
2313	FLI1	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:2308
2314	FLII	HP:0001169	Broad palm	HP:0040282	ORPHA:819
2314	FLII	HP:0001156	Brachydactyly	HP:0040281	ORPHA:819
2314	FLII	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:819
2314	FLII	HP:0007328	Impaired pain sensation	HP:0040282	ORPHA:819
2314	FLII	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:819
2314	FLII	HP:0034819	Iris nodule	HP:0040283	ORPHA:819
2314	FLII	HP:0001288	Gait disturbance	HP:0040282	ORPHA:819
2314	FLII	HP:0001250	Seizure	HP:0040283	ORPHA:819
2314	FLII	HP:0001252	Hypotonia	HP:0040281	ORPHA:819
2314	FLII	HP:0001249	Intellectual disability	HP:0040281	ORPHA:819
2314	FLII	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:819
2314	FLII	HP:0001263	Global developmental delay	HP:0040281	ORPHA:819
2314	FLII	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040282	ORPHA:819
2314	FLII	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:819
2314	FLII	HP:0000069	Abnormality of the ureter	HP:0040283	ORPHA:819
2314	FLII	HP:0001387	Joint stiffness	HP:0040283	ORPHA:819
2314	FLII	HP:0032508	Polyembolokoilamania	HP:0040282	ORPHA:819
2314	FLII	HP:0032509	Onychotillomania	HP:0040282	ORPHA:819
2314	FLII	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:819
2314	FLII	HP:0000007	Autosomal recessive inheritance	-	OMIM:620635
2314	FLII	HP:0002650	Scoliosis	HP:0040282	ORPHA:819
2314	FLII	HP:0000194	Open mouth	HP:0040282	ORPHA:819
2314	FLII	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:819
2314	FLII	HP:0000175	Cleft palate	HP:0040283	ORPHA:819
2314	FLII	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:819
2314	FLII	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:819
2314	FLII	HP:0002720	Decreased circulating IgA concentration	HP:0040283	ORPHA:819
2314	FLII	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:819
2314	FLII	HP:0002019	Constipation	HP:0040282	ORPHA:819
2314	FLII	HP:0002007	Frontal bossing	HP:0040281	ORPHA:819
2314	FLII	HP:0011800	Midface retrusion	HP:0040281	ORPHA:819
2314	FLII	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:819
2314	FLII	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:819
2314	FLII	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:819
2314	FLII	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:819
2314	FLII	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:819
2314	FLII	HP:0010535	Sleep apnea	HP:0040283	ORPHA:819
2314	FLII	HP:0003593	Infantile onset	3/3	OMIM:620635
2314	FLII	HP:0100710	Impulsivity	HP:0040282	ORPHA:819
2314	FLII	HP:0100716	Self-injurious behavior	HP:0040281	ORPHA:819
2314	FLII	HP:0100729	Large face	HP:0040281	ORPHA:819
2314	FLII	HP:0007018	Attention deficit hyperactivity disorder	HP:0040281	ORPHA:819
2314	FLII	HP:0032041	Vocal cord polyp	HP:0040282	ORPHA:819
2314	FLII	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:819
2314	FLII	HP:0002353	EEG abnormality	HP:0040282	ORPHA:819
2314	FLII	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:819
2314	FLII	HP:0010804	Tented upper lip vermilion	HP:0040281	ORPHA:819
2314	FLII	HP:0010780	Hyperacusis	HP:0040282	ORPHA:819
2314	FLII	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:819
2314	FLII	HP:5200360	Short REM sleep	HP:0040282	ORPHA:819
2314	FLII	HP:0012689	Abnormal pineal melatonin secretion	HP:0040281	ORPHA:819
2314	FLII	HP:0000680	Delayed eruption of primary teeth	HP:0040281	ORPHA:819
2314	FLII	HP:0012666	Severely reduced left ventricular ejection fraction	3/3	OMIM:620635
2314	FLII	HP:0000679	Taurodontia	HP:0040281	ORPHA:819
2314	FLII	HP:0000664	Synophrys	HP:0040281	ORPHA:819
2314	FLII	HP:0004322	Short stature	HP:0040282	ORPHA:819
2314	FLII	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:819
2314	FLII	HP:0005607	Abnormal tracheobronchial morphology	HP:0040281	ORPHA:819
2314	FLII	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:819
2314	FLII	HP:0000739	Anxiety	HP:0040281	ORPHA:819
2314	FLII	HP:0000733	Motor stereotypy	HP:0040281	ORPHA:819
2314	FLII	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:819
2314	FLII	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:819
2314	FLII	HP:0003196	Short nose	HP:0040282	ORPHA:819
2314	FLII	HP:0000826	Precocious puberty	HP:0040283	ORPHA:819
2314	FLII	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:819
2314	FLII	HP:0000823	Delayed puberty	HP:0040283	ORPHA:819
2314	FLII	HP:0011675	Arrhythmia	HP:0040283	ORPHA:819
2314	FLII	HP:0000280	Coarse facial features	HP:0040282	ORPHA:819
2314	FLII	HP:0000252	Microcephaly	HP:0040283	ORPHA:819
2314	FLII	HP:0000248	Brachycephaly	HP:0040281	ORPHA:819
2314	FLII	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:819
2314	FLII	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:819
2314	FLII	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:819
2314	FLII	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:819
2314	FLII	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:819
2314	FLII	HP:0001513	Obesity	HP:0040281	ORPHA:819
2314	FLII	HP:0001609	Hoarse voice	HP:0040281	ORPHA:819
2314	FLII	HP:0000337	Broad forehead	HP:0040281	ORPHA:819
2314	FLII	HP:0001684	Secundum atrial septal defect	1/3	OMIM:620635
2314	FLII	HP:0000347	Micrognathia	HP:0040282	ORPHA:819
2314	FLII	HP:0000321	Square face	HP:0040282	ORPHA:819
2314	FLII	HP:0000316	Hypertelorism	HP:0040282	ORPHA:819
2314	FLII	HP:0001644	Dilated cardiomyopathy	3/3	OMIM:620635
2314	FLII	HP:0000322	Short philtrum	HP:0040282	ORPHA:819
2314	FLII	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:819
2314	FLII	HP:0001635	Congestive heart failure	2/3	OMIM:620635
2314	FLII	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:819
2314	FLII	HP:0000403	Recurrent otitis media	HP:0040281	ORPHA:819
2314	FLII	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:819
2314	FLII	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:819
2314	FLII	HP:0000486	Strabismus	HP:0040282	ORPHA:819
2314	FLII	HP:0000482	Microcornea	HP:0040282	ORPHA:819
2314	FLII	HP:0000490	Deeply set eye	HP:0040281	ORPHA:819
2314	FLII	HP:0000463	Anteverted nares	HP:0040282	ORPHA:819
2314	FLII	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:819
2314	FLII	HP:0001763	Pes planus	HP:0040282	ORPHA:819
2314	FLII	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:819
2314	FLII	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:819
2314	FLII	HP:0000541	Retinal detachment	HP:0040283	ORPHA:819
2314	FLII	HP:0000545	Myopia	HP:0040282	ORPHA:819
2316	FLNA	HP:0001156	Brachydactyly	HP:0040282	ORPHA:88630
2316	FLNA	HP:0001156	Brachydactyly	5/6	OMIM:300244
2316	FLNA	HP:0001166	Arachnodactyly	5/11	OMIM:305620
2316	FLNA	HP:0001162	Postaxial hand polydactyly	-	OMIM:304120
2316	FLNA	HP:0001159	Syndactyly	3/9	OMIM:300244
2316	FLNA	HP:0001159	Syndactyly	HP:0040283	ORPHA:88630
2316	FLNA	HP:0001159	Syndactyly	1/1	OMIM:300049
2316	FLNA	HP:0002475	Myelomeningocele	HP:0040283	ORPHA:90652
2316	FLNA	HP:0003779	Antegonial notching of mandible	-	OMIM:305620
2316	FLNA	HP:0025197	Inclusion body fibromatosis	HP:0040281	ORPHA:88630
2316	FLNA	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:90650
2316	FLNA	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:2484
2316	FLNA	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:1826
2316	FLNA	HP:0009882	Short distal phalanx of finger	-	OMIM:309350
2316	FLNA	HP:0009882	Short distal phalanx of finger	-	OMIM:311300
2316	FLNA	HP:0002414	Spina bifida	1/1	OMIM:304120
2316	FLNA	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2316	FLNA	HP:0001297	Stroke	3/11	OMIM:300049
2316	FLNA	HP:0001293	Cranial nerve compression	-	OMIM:131300
2316	FLNA	HP:0001290	Generalized hypotonia	HP:0040284	ORPHA:555877
2316	FLNA	HP:0100807	Long fingers	HP:0040281	ORPHA:1826
2316	FLNA	HP:0001270	Motor delay	-	OMIM:309350
2316	FLNA	HP:0001288	Gait disturbance	-	OMIM:309350
2316	FLNA	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:90650
2316	FLNA	HP:0001256	Intellectual disability, mild	-	OMIM:311300
2316	FLNA	HP:0001256	Intellectual disability, mild	-	OMIM:300049
2316	FLNA	HP:0001250	Seizure	-	OMIM:300049
2316	FLNA	HP:0001250	Seizure	HP:0040283	OMIM:300048
2316	FLNA	HP:0001252	Hypotonia	2/7	OMIM:615777
2316	FLNA	HP:0001249	Intellectual disability	HP:0040282	ORPHA:90652
2316	FLNA	HP:0001249	Intellectual disability	HP:0040283	ORPHA:1826
2316	FLNA	HP:0001249	Intellectual disability	10/30	OMIM:305620
2316	FLNA	HP:0001249	Intellectual disability	1/1	OMIM:304120
2316	FLNA	HP:0001249	Intellectual disability	5/7	OMIM:615777
2316	FLNA	HP:0001264	Spastic diplegia	HP:0040283	OMIM:300048
2316	FLNA	HP:0001263	Global developmental delay	HP:0040282	ORPHA:90652
2316	FLNA	HP:0001263	Global developmental delay	-	OMIM:615777
2316	FLNA	HP:0001241	Capitate-hamate fusion	-	OMIM:311300
2316	FLNA	HP:0001239	Wrist flexion contracture	-	OMIM:305620
2316	FLNA	HP:0001239	Wrist flexion contracture	HP:0040282	ORPHA:1826
2316	FLNA	HP:0002566	Intestinal malrotation	HP:0040282	ORPHA:2301
2316	FLNA	HP:0002566	Intestinal malrotation	-	OMIM:300048
2316	FLNA	HP:0100857	Flat sella turcica	1/1	OMIM:304120
2316	FLNA	HP:0006070	Metacarpophalangeal joint contracture	HP:0040282	ORPHA:1826
2316	FLNA	HP:0032388	Periventricular nodular heterotopia	HP:0040284	ORPHA:555877
2316	FLNA	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:98892
2316	FLNA	HP:0008661	Urethral stenosis	HP:0040282	ORPHA:1826
2316	FLNA	HP:0006000	Ureteral obstruction	HP:0040282	ORPHA:1826
2316	FLNA	HP:0006000	Ureteral obstruction	HP:0040282	ORPHA:90652
2316	FLNA	HP:0006006	Hypotrophy of the small hand muscles	HP:0040283	ORPHA:1826
2316	FLNA	HP:0033606	Bone marrow maturation arrest	1/1	OMIM:300049
2316	FLNA	HP:0001220	Interphalangeal joint contracture of finger	10/11	OMIM:305620
2316	FLNA	HP:0001220	Interphalangeal joint contracture of finger	HP:0040282	ORPHA:1826
2316	FLNA	HP:0002515	Waddling gait	54/102	OMIM:131300
2316	FLNA	HP:0003826	Stillbirth	-	OMIM:309350
2316	FLNA	HP:0003826	Stillbirth	-	OMIM:304120
2316	FLNA	HP:0003834	Shoulder dislocation	HP:0040283	ORPHA:98892
2316	FLNA	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2484
2316	FLNA	HP:0000072	Hydroureter	-	OMIM:305620
2316	FLNA	HP:0000071	Ureteral stenosis	-	OMIM:309350
2316	FLNA	HP:0001374	Congenital hip dislocation	-	OMIM:304120
2316	FLNA	HP:0001377	Limited elbow extension	-	OMIM:309350
2316	FLNA	HP:0001377	Limited elbow extension	-	OMIM:311300
2316	FLNA	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:90650
2316	FLNA	HP:0001371	Flexion contracture	HP:0040282	ORPHA:88630
2316	FLNA	HP:0001387	Joint stiffness	HP:0040284	OMIM:314400
2316	FLNA	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:75497
2316	FLNA	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:555877
2316	FLNA	HP:0001382	Joint hypermobility	HP:0040284	OMIM:314400
2316	FLNA	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:98892
2316	FLNA	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:2484
2316	FLNA	HP:0001382	Joint hypermobility	-	OMIM:615777
2316	FLNA	HP:0000047	Hypospadias	HP:0040282	ORPHA:90652
2316	FLNA	HP:0000047	Hypospadias	-	OMIM:304120
2316	FLNA	HP:0000023	Inguinal hernia	HP:0040281	ORPHA:75497
2316	FLNA	HP:0002684	Thickened calvaria	HP:0040282	ORPHA:90650
2316	FLNA	HP:0002684	Thickened calvaria	HP:0040282	ORPHA:90652
2316	FLNA	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:1826
2316	FLNA	HP:0001363	Craniosynostosis	0/11	OMIM:305620
2316	FLNA	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2316	FLNA	HP:0002694	Sclerosis of skull base	HP:0040282	ORPHA:1826
2316	FLNA	HP:0002694	Sclerosis of skull base	-	OMIM:304120
2316	FLNA	HP:0000028	Cryptorchidism	-	OMIM:304120
2316	FLNA	HP:0002688	Absent frontal sinuses	6/11	OMIM:305620
2316	FLNA	HP:0002688	Absent frontal sinuses	-	OMIM:311300
2316	FLNA	HP:0008897	Postnatal growth retardation	-	OMIM:304120
2316	FLNA	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2316	FLNA	HP:0006207	Partial fusion of carpals	-	OMIM:305620
2316	FLNA	HP:0008872	Feeding difficulties in infancy	-	OMIM:300048
2316	FLNA	HP:0006160	Irregular metacarpals	-	OMIM:304120
2316	FLNA	HP:0006155	Long phalanx of finger	-	OMIM:305620
2316	FLNA	HP:0033725	Thin corpus callosum	1/1	OMIM:300049
2316	FLNA	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2316	FLNA	HP:0001324	Muscle weakness	40/96	OMIM:131300
2316	FLNA	HP:0001342	Cerebral hemorrhage	1/1	OMIM:300049
2316	FLNA	HP:0002673	Coxa valga	-	OMIM:305620
2316	FLNA	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2316	FLNA	HP:0002673	Coxa valga	HP:0040282	ORPHA:2484
2316	FLNA	HP:0002673	Coxa valga	-	OMIM:309350
2316	FLNA	HP:0002673	Coxa valga	-	OMIM:311300
2316	FLNA	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2316	FLNA	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
2316	FLNA	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2316	FLNA	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:90650
2316	FLNA	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:90652
2316	FLNA	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:1826
2316	FLNA	HP:0002650	Scoliosis	HP:0040283	ORPHA:90652
2316	FLNA	HP:0002650	Scoliosis	HP:0040281	ORPHA:1826
2316	FLNA	HP:0002650	Scoliosis	HP:0040284	ORPHA:555877
2316	FLNA	HP:0002650	Scoliosis	2/11	OMIM:305620
2316	FLNA	HP:0002650	Scoliosis	HP:0040283	ORPHA:88630
2316	FLNA	HP:0002650	Scoliosis	12/14	OMIM:131300
2316	FLNA	HP:0002650	Scoliosis	HP:0040281	ORPHA:98892
2316	FLNA	HP:0002650	Scoliosis	HP:0040282	ORPHA:2484
2316	FLNA	HP:0002650	Scoliosis	-	OMIM:311300
2316	FLNA	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:90652
2316	FLNA	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:300049
2316	FLNA	HP:0001319	Neonatal hypotonia	-	OMIM:300321
2316	FLNA	HP:0002645	Wormian bones	1/1	OMIM:304120
2316	FLNA	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2316	FLNA	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2316	FLNA	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2316	FLNA	HP:0000189	Narrow palate	HP:0040283	ORPHA:555877
2316	FLNA	HP:0000179	Thick lower lip vermilion	HP:0040284	ORPHA:555877
2316	FLNA	HP:0025473	Hyperpigmented papule	HP:0040281	ORPHA:88630
2316	FLNA	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2316	FLNA	HP:0000193	Bifid uvula	HP:0040283	ORPHA:1826
2316	FLNA	HP:0000191	Accessory oral frenulum	2/3	OMIM:300244
2316	FLNA	HP:0000191	Accessory oral frenulum	HP:0040282	ORPHA:88630
2316	FLNA	HP:0000160	Narrow mouth	HP:0040281	ORPHA:90652
2316	FLNA	HP:0000160	Narrow mouth	1/1	OMIM:304120
2316	FLNA	HP:0000160	Narrow mouth	-	OMIM:311300
2316	FLNA	HP:0000162	Glossoptosis	HP:0040282	ORPHA:90652
2316	FLNA	HP:0001488	Bilateral ptosis	HP:0040284	ORPHA:555877
2316	FLNA	HP:0000175	Cleft palate	HP:0040281	ORPHA:90650
2316	FLNA	HP:0000175	Cleft palate	HP:0040281	ORPHA:90652
2316	FLNA	HP:0000175	Cleft palate	1/1	OMIM:304120
2316	FLNA	HP:0000175	Cleft palate	HP:0040283	ORPHA:1826
2316	FLNA	HP:0000175	Cleft palate	1/8	OMIM:300244
2316	FLNA	HP:0000175	Cleft palate	-	OMIM:309350
2316	FLNA	HP:0000175	Cleft palate	18/18	OMIM:311300
2316	FLNA	HP:0000175	Cleft palate	0/9	OMIM:305620
2316	FLNA	HP:0000175	Cleft palate	2/7	OMIM:615777
2316	FLNA	HP:0001476	Delayed closure of the anterior fontanelle	-	OMIM:311300
2316	FLNA	HP:0001476	Delayed closure of the anterior fontanelle	-	OMIM:304120
2316	FLNA	HP:0005011	Mesomelic arm shortening	HP:0040283	OMIM:300244
2316	FLNA	HP:0006335	Persistence of primary teeth	-	OMIM:305620
2316	FLNA	HP:0008952	Shoulder muscle hypoplasia	HP:0040283	ORPHA:1826
2316	FLNA	HP:0002700	Large foramen magnum	-	OMIM:305620
2316	FLNA	HP:0006248	Limited wrist movement	HP:0040282	ORPHA:1826
2316	FLNA	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:90652
2316	FLNA	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:2484
2316	FLNA	HP:0000126	Hydronephrosis	-	OMIM:304120
2316	FLNA	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:1826
2316	FLNA	HP:0000126	Hydronephrosis	-	OMIM:309350
2316	FLNA	HP:0000126	Hydronephrosis	-	OMIM:305620
2316	FLNA	HP:0000126	Hydronephrosis	HP:0040283	OMIM:300048
2316	FLNA	HP:0001423	X-linked dominant inheritance	-	OMIM:300244
2316	FLNA	HP:0001423	X-linked dominant inheritance	-	OMIM:300049
2316	FLNA	HP:0001423	X-linked dominant inheritance	-	OMIM:304120
2316	FLNA	HP:0001423	X-linked dominant inheritance	-	OMIM:309350
2316	FLNA	HP:0001423	X-linked dominant inheritance	-	OMIM:311300
2316	FLNA	HP:0002737	Thick skull base	-	OMIM:311300
2316	FLNA	HP:0002738	Hypoplastic frontal sinuses	HP:0040282	ORPHA:90650
2316	FLNA	HP:0002738	Hypoplastic frontal sinuses	HP:0040282	ORPHA:90652
2316	FLNA	HP:0002751	Kyphoscoliosis	1/1	OMIM:304120
2316	FLNA	HP:0002751	Kyphoscoliosis	-	OMIM:309350
2316	FLNA	HP:0001419	X-linked recessive inheritance	-	OMIM:305620
2316	FLNA	HP:0001419	X-linked recessive inheritance	-	OMIM:300048
2316	FLNA	HP:0001417	X-linked inheritance	-	OMIM:314400
2316	FLNA	HP:0001417	X-linked inheritance	-	OMIM:300321
2316	FLNA	HP:0002719	Recurrent infections	HP:0040281	ORPHA:99811
2316	FLNA	HP:0002719	Recurrent infections	1/1	OMIM:300049
2316	FLNA	HP:0002024	Malabsorption	HP:0040281	ORPHA:99811
2316	FLNA	HP:0002021	Pyloric stenosis	HP:0040281	ORPHA:98892
2316	FLNA	HP:0002021	Pyloric stenosis	HP:0040283	OMIM:300048
2316	FLNA	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:75497
2316	FLNA	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:98892
2316	FLNA	HP:0002019	Constipation	-	OMIM:300321
2316	FLNA	HP:0040309	Increased size of the mandible	-	OMIM:300048
2316	FLNA	HP:0002003	Large forehead	-	OMIM:300321
2316	FLNA	HP:0003330	Abnormal bone structure	-	OMIM:300244
2316	FLNA	HP:0002013	Vomiting	-	OMIM:300048
2316	FLNA	HP:0002007	Frontal bossing	-	OMIM:304120
2316	FLNA	HP:0002007	Frontal bossing	HP:0040282	ORPHA:2484
2316	FLNA	HP:0002007	Frontal bossing	-	OMIM:311300
2316	FLNA	HP:0003304	Spondylolysis	-	OMIM:304120
2316	FLNA	HP:0011800	Midface retrusion	-	OMIM:304120
2316	FLNA	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:90652
2316	FLNA	HP:0002084	Encephalocele	HP:0040283	ORPHA:90652
2316	FLNA	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:2301
2316	FLNA	HP:0002094	Dyspnea	HP:0040284	ORPHA:555877
2316	FLNA	HP:0002092	Pulmonary arterial hypertension	-	OMIM:309350
2316	FLNA	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:2484
2316	FLNA	HP:0002093	Respiratory insufficiency	-	OMIM:304120
2316	FLNA	HP:0002079	Hypoplasia of the corpus callosum	HP:0040284	ORPHA:555877
2316	FLNA	HP:0002079	Hypoplasia of the corpus callosum	3/11	OMIM:300049
2316	FLNA	HP:0003388	Easy fatigability	36/76	OMIM:131300
2316	FLNA	HP:0010444	Pulmonic regurgitation	HP:0040281	ORPHA:555877
2316	FLNA	HP:0009467	Radial deviation of the 2nd finger	-	OMIM:304120
2316	FLNA	HP:0008127	Bipartite calcaneus	-	OMIM:311300
2316	FLNA	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2316	FLNA	HP:0100578	Lipoatrophy	HP:0040282	ORPHA:2301
2316	FLNA	HP:0004611	Anterior concavity of thoracic vertebrae	-	OMIM:309350
2316	FLNA	HP:0004608	Anteriorly placed odontoid process	-	OMIM:305620
2316	FLNA	HP:0004602	Cervical C2/C3 vertebral fusion	3/9	OMIM:305620
2316	FLNA	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:90650
2316	FLNA	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:90652
2316	FLNA	HP:0009487	Ulnar deviation of the hand	HP:0040282	ORPHA:1826
2316	FLNA	HP:0009473	Joint contracture of the hand	HP:0040281	ORPHA:1826
2316	FLNA	HP:0009623	Proximal placement of thumb	HP:0040282	ORPHA:90650
2316	FLNA	HP:0002164	Nail dysplasia	-	OMIM:311300
2316	FLNA	HP:0100490	Camptodactyly of finger	-	OMIM:300244
2316	FLNA	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:90652
2316	FLNA	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:1826
2316	FLNA	HP:0100490	Camptodactyly of finger	9/11	OMIM:305620
2316	FLNA	HP:0010559	Vertical clivus	-	OMIM:304120
2316	FLNA	HP:0010557	Overlapping fingers	-	OMIM:304120
2316	FLNA	HP:0010562	Keloids	HP:0040282	ORPHA:1826
2316	FLNA	HP:0010560	Undulate clavicles	-	OMIM:304120
2316	FLNA	HP:0011877	Increased mean platelet volume	-	OMIM:300048
2316	FLNA	HP:0010505	Limitation of movement at ankles	HP:0040282	ORPHA:1826
2316	FLNA	HP:0010501	Limitation of knee mobility	HP:0040282	ORPHA:1826
2316	FLNA	HP:0003593	Infantile onset	-	OMIM:300048
2316	FLNA	HP:0002269	Abnormality of neuronal migration	-	OMIM:300049
2316	FLNA	HP:0003577	Congenital onset	1/1	OMIM:304120
2316	FLNA	HP:0002236	Frontal upsweep of hair	-	OMIM:300321
2316	FLNA	HP:0002208	Coarse hair	-	OMIM:309350
2316	FLNA	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:2484
2316	FLNA	HP:0002205	Recurrent respiratory infections	-	OMIM:309350
2316	FLNA	HP:0008404	Nail dystrophy	-	OMIM:311300
2316	FLNA	HP:0100790	Hernia	HP:0040281	ORPHA:98892
2316	FLNA	HP:0100790	Hernia	HP:0040281	ORPHA:75497
2316	FLNA	HP:0009702	Carpal synostosis	0/9	OMIM:305620
2316	FLNA	HP:0009702	Carpal synostosis	HP:0040283	ORPHA:90652
2316	FLNA	HP:0002282	Gray matter heterotopia	-	OMIM:300049
2316	FLNA	HP:0010675	Abnormal foot bone ossification	-	OMIM:300244
2316	FLNA	HP:0008368	Tarsal synostosis	HP:0040283	ORPHA:90652
2316	FLNA	HP:0010660	Abnormal hand bone ossification	-	OMIM:300244
2316	FLNA	HP:0009650	Short distal phalanx of the thumb	HP:0040282	ORPHA:1826
2316	FLNA	HP:0009642	Broad distal phalanx of the thumb	-	OMIM:311300
2316	FLNA	HP:0010614	Fibroma	-	OMIM:300244
2316	FLNA	HP:0003510	Severe short stature	7/7	OMIM:615777
2316	FLNA	HP:0003691	Scapular winging	-	OMIM:305620
2316	FLNA	HP:0001007	Hirsutism	-	OMIM:305620
2316	FLNA	HP:0002315	Headache	-	OMIM:131300
2316	FLNA	HP:0004976	Knee dislocation	6/7	OMIM:615777
2316	FLNA	HP:0001000	Abnormality of skin pigmentation	-	OMIM:300244
2316	FLNA	HP:0004987	Mesomelic leg shortening	HP:0040283	OMIM:300244
2316	FLNA	HP:0009836	Broad distal phalanx of finger	-	OMIM:311300
2316	FLNA	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:2301
2316	FLNA	HP:0009803	Short phalanx of finger	-	OMIM:615777
2316	FLNA	HP:0009803	Short phalanx of finger	HP:0040281	ORPHA:1826
2316	FLNA	HP:0001087	Developmental glaucoma	HP:0040283	ORPHA:90652
2316	FLNA	HP:0007165	Periventricular heterotopia	HP:0040282	ORPHA:98892
2316	FLNA	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:309350
2316	FLNA	HP:0009771	Osteolytic defects of the phalanges of the hand	HP:0040282	ORPHA:2484
2316	FLNA	HP:0009778	Short thumb	HP:0040282	ORPHA:90650
2316	FLNA	HP:0009778	Short thumb	HP:0040281	ORPHA:90652
2316	FLNA	HP:0009778	Short thumb	-	OMIM:304120
2316	FLNA	HP:0010743	Short metatarsal	-	OMIM:304120
2316	FLNA	HP:0010743	Short metatarsal	HP:0040282	ORPHA:1826
2316	FLNA	HP:0009763	Limb pain	63/92	OMIM:131300
2316	FLNA	HP:0009768	Broad phalanges of the hand	-	OMIM:305620
2316	FLNA	HP:0002308	Chiari malformation	HP:0040283	ORPHA:1826
2316	FLNA	HP:0003621	Juvenile onset	-	OMIM:131300
2316	FLNA	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:98892
2316	FLNA	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2316	FLNA	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
2316	FLNA	HP:0004279	Short palm	HP:0040282	ORPHA:90650
2316	FLNA	HP:0004279	Short palm	HP:0040282	ORPHA:90652
2316	FLNA	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2316	FLNA	HP:0004232	Accessory carpal bones	-	OMIM:311300
2316	FLNA	HP:6001056	Out-toeing	-	OMIM:131300
2316	FLNA	HP:0000651	Diplopia	-	OMIM:131300
2316	FLNA	HP:0000646	Amblyopia	HP:0040283	ORPHA:1826
2316	FLNA	HP:0000612	Iris coloboma	1/7	OMIM:300244
2316	FLNA	HP:0000612	Iris coloboma	HP:0040283	ORPHA:88630
2316	FLNA	HP:0001956	Truncal obesity	2/7	OMIM:615777
2316	FLNA	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:314400
2316	FLNA	HP:0001903	Anemia	HP:0040283	OMIM:131300
2316	FLNA	HP:0010049	Short metacarpal	-	OMIM:615777
2316	FLNA	HP:0010049	Short metacarpal	-	OMIM:304120
2316	FLNA	HP:0010049	Short metacarpal	HP:0040282	ORPHA:1826
2316	FLNA	HP:0010047	Short 5th metacarpal	-	OMIM:311300
2316	FLNA	HP:0010055	Broad hallux	-	OMIM:300321
2316	FLNA	HP:0010055	Broad hallux	-	OMIM:304120
2316	FLNA	HP:0010055	Broad hallux	-	OMIM:311300
2316	FLNA	HP:0010041	Short 3rd metacarpal	-	OMIM:311300
2316	FLNA	HP:0010044	Short 4th metacarpal	-	OMIM:311300
2316	FLNA	HP:0011355	Localized skin lesion	-	OMIM:300244
2316	FLNA	HP:0000684	Delayed eruption of teeth	-	OMIM:305620
2316	FLNA	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:2484
2316	FLNA	HP:0000684	Delayed eruption of teeth	-	OMIM:309350
2316	FLNA	HP:0011335	Frontal hirsutism	-	OMIM:309350
2316	FLNA	HP:0000678	Dental crowding	-	OMIM:615777
2316	FLNA	HP:0000674	Anodontia	HP:0040281	ORPHA:90650
2316	FLNA	HP:0000674	Anodontia	HP:0040281	ORPHA:90652
2316	FLNA	HP:0000677	Oligodontia	HP:0040283	ORPHA:1826
2316	FLNA	HP:0000677	Oligodontia	HP:0040281	ORPHA:90650
2316	FLNA	HP:0000677	Oligodontia	HP:0040281	ORPHA:90652
2316	FLNA	HP:0000692	Tooth malposition	-	OMIM:309350
2316	FLNA	HP:0000692	Tooth malposition	HP:0040282	ORPHA:2484
2316	FLNA	HP:0000695	Natal tooth	HP:0040281	ORPHA:99811
2316	FLNA	HP:0000689	Dental malocclusion	-	OMIM:305620
2316	FLNA	HP:0000685	Hypoplasia of teeth	HP:0040283	ORPHA:88630
2316	FLNA	HP:0009004	Hypoplasia of the musculature	11/11	OMIM:305620
2316	FLNA	HP:0009004	Hypoplasia of the musculature	HP:0040283	ORPHA:1826
2316	FLNA	HP:0000670	Carious teeth	-	OMIM:131300
2316	FLNA	HP:0012639	Abnormal nervous system morphology	HP:0040282	ORPHA:98892
2316	FLNA	HP:0011304	Broad thumb	2/7	OMIM:615777
2316	FLNA	HP:0011304	Broad thumb	-	OMIM:304120
2316	FLNA	HP:0011304	Broad thumb	HP:0040281	ORPHA:1826
2316	FLNA	HP:0000668	Hypodontia	-	OMIM:615777
2316	FLNA	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:1826
2316	FLNA	HP:0001999	Abnormal facial shape	-	OMIM:300048
2316	FLNA	HP:0000664	Synophrys	-	OMIM:615777
2316	FLNA	HP:0004325	Decreased body weight	-	OMIM:300321
2316	FLNA	HP:0004322	Short stature	HP:0040281	ORPHA:75497
2316	FLNA	HP:0004322	Short stature	HP:0040282	ORPHA:2301
2316	FLNA	HP:0004322	Short stature	HP:0040281	ORPHA:2484
2316	FLNA	HP:0004322	Short stature	-	OMIM:304120
2316	FLNA	HP:0004322	Short stature	HP:0040283	ORPHA:88630
2316	FLNA	HP:0004322	Short stature	5/18	OMIM:311300
2316	FLNA	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:99811
2316	FLNA	HP:0005640	Abnormal vertebral segmentation and fusion	HP:0040283	ORPHA:90650
2316	FLNA	HP:0005640	Abnormal vertebral segmentation and fusion	HP:0040282	ORPHA:90652
2316	FLNA	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:75497
2316	FLNA	HP:0003083	Dislocated radial head	1/11	OMIM:305620
2316	FLNA	HP:0003083	Dislocated radial head	HP:0040282	ORPHA:1826
2316	FLNA	HP:0003083	Dislocated radial head	-	OMIM:311300
2316	FLNA	HP:0004389	Intestinal pseudo-obstruction	-	OMIM:300048
2316	FLNA	HP:0004396	Poor appetite	-	OMIM:131300
2316	FLNA	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2316	FLNA	HP:0003031	Ulnar bowing	1/1	OMIM:304120
2316	FLNA	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2316	FLNA	HP:0003042	Elbow dislocation	HP:0040282	ORPHA:90650
2316	FLNA	HP:0003042	Elbow dislocation	HP:0040282	ORPHA:90652
2316	FLNA	HP:0003015	Flared metaphysis	-	OMIM:309350
2316	FLNA	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2316	FLNA	HP:0003016	Metaphyseal widening	HP:0040282	ORPHA:1826
2316	FLNA	HP:0003026	Short long bone	7/7	OMIM:615777
2316	FLNA	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2316	FLNA	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:90652
2316	FLNA	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:2484
2316	FLNA	HP:0000767	Pectus excavatum	-	OMIM:304120
2316	FLNA	HP:0000767	Pectus excavatum	HP:0040284	ORPHA:555877
2316	FLNA	HP:0000767	Pectus excavatum	-	OMIM:309350
2316	FLNA	HP:0000767	Pectus excavatum	-	OMIM:311300
2316	FLNA	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2316	FLNA	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2316	FLNA	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2316	FLNA	HP:0000750	Delayed speech and language development	-	OMIM:300321
2316	FLNA	HP:0000750	Delayed speech and language development	-	OMIM:615777
2316	FLNA	HP:0011461	Fetal onset	7/7	OMIM:615777
2316	FLNA	HP:0009139	Osteolysis involving bones of the lower limbs	HP:0040283	ORPHA:88630
2316	FLNA	HP:0010109	Short hallux	-	OMIM:311300
2316	FLNA	HP:0010109	Short hallux	-	OMIM:304120
2316	FLNA	HP:0010109	Short hallux	HP:0040281	ORPHA:90650
2316	FLNA	HP:0010109	Short hallux	HP:0040281	ORPHA:90652
2316	FLNA	HP:0000774	Narrow chest	HP:0040281	ORPHA:90652
2316	FLNA	HP:0000774	Narrow chest	HP:0040281	ORPHA:2484
2316	FLNA	HP:0000774	Narrow chest	-	OMIM:304120
2316	FLNA	HP:0000774	Narrow chest	-	OMIM:309350
2316	FLNA	HP:0000774	Narrow chest	2/7	OMIM:615777
2316	FLNA	HP:0000773	Short ribs	-	OMIM:304120
2316	FLNA	HP:0000776	Congenital diaphragmatic hernia	HP:0040282	ORPHA:99811
2316	FLNA	HP:0003103	Abnormal cortical bone morphology	HP:0040281	ORPHA:2484
2316	FLNA	HP:0003196	Short nose	HP:0040281	ORPHA:90652
2316	FLNA	HP:0003196	Short nose	-	OMIM:311300
2316	FLNA	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:1826
2316	FLNA	HP:0000926	Platyspondyly	-	OMIM:304120
2316	FLNA	HP:0000926	Platyspondyly	1/7	OMIM:615777
2316	FLNA	HP:0003172	Abnormal pubic bone morphology	HP:0040282	ORPHA:2484
2316	FLNA	HP:0003180	Flat acetabular roof	-	OMIM:615777
2316	FLNA	HP:0004482	Relative macrocephaly	-	OMIM:615777
2316	FLNA	HP:0004493	Craniofacial hyperostosis	HP:0040282	ORPHA:2484
2316	FLNA	HP:0004467	Preauricular pit	-	OMIM:187500
2316	FLNA	HP:0004467	Preauricular pit	HP:0040283	ORPHA:88630
2316	FLNA	HP:0005792	Short humerus	-	OMIM:309350
2316	FLNA	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2316	FLNA	HP:0030718	Right atrial enlargement	HP:0040284	ORPHA:555877
2316	FLNA	HP:0000882	Hypoplastic scapulae	-	OMIM:309350
2316	FLNA	HP:0000823	Delayed puberty	-	OMIM:131300
2316	FLNA	HP:0011580	Short chordae tendineae of the mitral valve	-	OMIM:314400
2316	FLNA	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	-	OMIM:309350
2316	FLNA	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	HP:0040282	ORPHA:2484
2316	FLNA	HP:0000894	Short clavicles	-	OMIM:615777
2316	FLNA	HP:0000894	Short clavicles	-	OMIM:309350
2316	FLNA	HP:0000894	Short clavicles	HP:0040282	ORPHA:2484
2316	FLNA	HP:0030889	Congenital shortened small intestine	HP:0040283	OMIM:300048
2316	FLNA	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2316	FLNA	HP:0003202	Skeletal muscle atrophy	-	OMIM:305620
2316	FLNA	HP:0045039	Osteolysis involving bones of the upper limbs	HP:0040283	ORPHA:88630
2316	FLNA	HP:0034391	Elbow contracture	1/1	OMIM:304120
2316	FLNA	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:1826
2316	FLNA	HP:0003270	Abdominal distention	-	OMIM:300048
2316	FLNA	HP:0003256	Abnormality of the coagulation cascade	-	OMIM:300049
2316	FLNA	HP:0011645	Dilatation of the sinus of Valsalva	1/1	OMIM:304120
2316	FLNA	HP:0100258	Preaxial polydactyly	HP:0040283	ORPHA:90652
2316	FLNA	HP:0010307	Stridor	-	OMIM:305620
2316	FLNA	HP:0010306	Short thorax	HP:0040281	ORPHA:2484
2316	FLNA	HP:0010306	Short thorax	HP:0040283	ORPHA:88630
2316	FLNA	HP:0000978	Bruising susceptibility	HP:0040281	ORPHA:75497
2316	FLNA	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:75497
2316	FLNA	HP:0000974	Hyperextensible skin	HP:0040284	ORPHA:555877
2316	FLNA	HP:0000973	Cutis laxa	HP:0040284	OMIM:314400
2316	FLNA	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:1826
2316	FLNA	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2316	FLNA	HP:0000963	Thin skin	HP:0040282	ORPHA:98892
2316	FLNA	HP:0000963	Thin skin	HP:0040281	ORPHA:75497
2316	FLNA	HP:0000946	Hypoplastic ilia	-	OMIM:304120
2316	FLNA	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2484
2316	FLNA	HP:0000941	Short diaphyses	HP:0040282	ORPHA:1826
2316	FLNA	HP:0008097	Partial fusion of tarsals	-	OMIM:305620
2316	FLNA	HP:0008081	Pes valgus	HP:0040282	ORPHA:1826
2316	FLNA	HP:0008087	Nonossified fifth metatarsal	-	OMIM:304120
2316	FLNA	HP:0008089	Abnormality of the fifth metatarsal bone	-	OMIM:311300
2316	FLNA	HP:0008070	Sparse hair	HP:0040282	ORPHA:2301
2316	FLNA	HP:0009381	Short finger	1/1	OMIM:300049
2316	FLNA	HP:0000286	Epicanthus	HP:0040283	ORPHA:88630
2316	FLNA	HP:0000286	Epicanthus	3/5	OMIM:300244
2316	FLNA	HP:0000286	Epicanthus	1/7	OMIM:615777
2316	FLNA	HP:0000283	Broad face	-	OMIM:304120
2316	FLNA	HP:0000280	Coarse facial features	HP:0040282	ORPHA:1826
2316	FLNA	HP:0000280	Coarse facial features	-	OMIM:305620
2316	FLNA	HP:0000280	Coarse facial features	2/7	OMIM:615777
2316	FLNA	HP:0000293	Full cheeks	HP:0040282	ORPHA:2484
2316	FLNA	HP:0000293	Full cheeks	HP:0040282	ORPHA:1826
2316	FLNA	HP:0001596	Alopecia	HP:0040282	ORPHA:88630
2316	FLNA	HP:0000260	Wide anterior fontanel	-	OMIM:304120
2316	FLNA	HP:0001592	Selective tooth agenesis	-	OMIM:305620
2316	FLNA	HP:0001592	Selective tooth agenesis	-	OMIM:311300
2316	FLNA	HP:0000274	Small face	-	OMIM:309350
2316	FLNA	HP:0000270	Delayed cranial suture closure	HP:0040281	ORPHA:2484
2316	FLNA	HP:0000270	Delayed cranial suture closure	-	OMIM:309350
2316	FLNA	HP:0000272	Malar flattening	-	OMIM:300244
2316	FLNA	HP:0000272	Malar flattening	HP:0040281	ORPHA:90652
2316	FLNA	HP:0000272	Malar flattening	-	OMIM:304120
2316	FLNA	HP:0000272	Malar flattening	-	OMIM:311300
2316	FLNA	HP:0000269	Prominent occiput	-	OMIM:311300
2316	FLNA	HP:0006466	Ankle flexion contracture	-	OMIM:305620
2316	FLNA	HP:0006440	Increased density of long bone diaphyses	-	OMIM:305620
2316	FLNA	HP:0005090	Lateral femoral bowing	-	OMIM:311300
2316	FLNA	HP:0002814	Abnormality of the lower limb	-	OMIM:300244
2316	FLNA	HP:0002827	Hip dislocation	HP:0040282	ORPHA:2484
2316	FLNA	HP:0002827	Hip dislocation	-	OMIM:309350
2316	FLNA	HP:0002827	Hip dislocation	-	OMIM:311300
2316	FLNA	HP:0002827	Hip dislocation	3/7	OMIM:615777
2316	FLNA	HP:0002828	Multiple joint contractures	-	OMIM:300244
2316	FLNA	HP:0030084	Clinodactyly	4/5	OMIM:300244
2316	FLNA	HP:0030084	Clinodactyly	HP:0040282	ORPHA:88630
2316	FLNA	HP:0030084	Clinodactyly	1/1	OMIM:300049
2316	FLNA	HP:0006380	Knee flexion contracture	-	OMIM:305620
2316	FLNA	HP:0006381	Rudimentary fibula	-	OMIM:304120
2316	FLNA	HP:0006383	Progressive bowing of long bones	HP:0040283	ORPHA:1826
2316	FLNA	HP:0006389	Limited knee flexion	-	OMIM:311300
2316	FLNA	HP:0005048	Synostosis of carpal bones	-	OMIM:311300
2316	FLNA	HP:0005048	Synostosis of carpal bones	HP:0040283	ORPHA:90650
2316	FLNA	HP:0005048	Synostosis of carpal bones	HP:0040283	ORPHA:90652
2316	FLNA	HP:0001571	Multiple impacted teeth	-	OMIM:311300
2316	FLNA	HP:0000239	Large fontanelles	HP:0040281	ORPHA:90652
2316	FLNA	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:90652
2316	FLNA	HP:0000238	Hydrocephalus	-	OMIM:304120
2316	FLNA	HP:0000252	Microcephaly	-	OMIM:615777
2316	FLNA	HP:0002878	Respiratory failure	-	OMIM:304120
2316	FLNA	HP:0002879	Anisospondyly	HP:0040282	ORPHA:2484
2316	FLNA	HP:0000218	High palate	-	OMIM:305620
2316	FLNA	HP:0002857	Genu valgum	-	OMIM:131300
2316	FLNA	HP:0002857	Genu valgum	-	OMIM:309350
2316	FLNA	HP:0002857	Genu valgum	-	OMIM:305620
2316	FLNA	HP:0002869	Flared iliac wing	HP:0040282	ORPHA:90652
2316	FLNA	HP:0001537	Umbilical hernia	1/1	OMIM:304120
2316	FLNA	HP:0001537	Umbilical hernia	HP:0040281	ORPHA:75497
2316	FLNA	HP:0001539	Omphalocele	HP:0040282	ORPHA:90652
2316	FLNA	HP:0001539	Omphalocele	HP:0040283	ORPHA:2484
2316	FLNA	HP:0001539	Omphalocele	-	OMIM:304120
2316	FLNA	HP:0001539	Omphalocele	-	OMIM:309350
2316	FLNA	HP:0001539	Omphalocele	-	OMIM:311300
2316	FLNA	HP:0001533	Slender build	-	OMIM:131300
2316	FLNA	HP:0000201	Pierre-Robin sequence	HP:0040282	ORPHA:90652
2316	FLNA	HP:0001508	Failure to thrive	HP:0040282	ORPHA:90652
2316	FLNA	HP:0001508	Failure to thrive	-	OMIM:309350
2316	FLNA	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2316	FLNA	HP:0001510	Growth delay	HP:0040283	ORPHA:1826
2316	FLNA	HP:0007807	Optic nerve compression	-	OMIM:131300
2316	FLNA	HP:0012385	Camptodactyly	HP:0040283	ORPHA:88630
2316	FLNA	HP:0012368	Flat face	7/7	OMIM:615777
2316	FLNA	HP:0012368	Flat face	-	OMIM:311300
2316	FLNA	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:90652
2316	FLNA	HP:0005245	Intestinal hypoplasia	HP:0040281	ORPHA:2301
2316	FLNA	HP:0001607	Subglottic stenosis	HP:0040282	ORPHA:1826
2316	FLNA	HP:0001609	Hoarse voice	-	OMIM:309350
2316	FLNA	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2316	FLNA	HP:0002949	Fused cervical vertebrae	-	OMIM:305620
2316	FLNA	HP:0002949	Fused cervical vertebrae	HP:0040282	ORPHA:1826
2316	FLNA	HP:0005180	Tricuspid regurgitation	9/30	OMIM:314400
2316	FLNA	HP:0005180	Tricuspid regurgitation	HP:0040281	ORPHA:555877
2316	FLNA	HP:0006487	Bowing of the long bones	2/11	OMIM:305620
2316	FLNA	HP:0006487	Bowing of the long bones	HP:0040282	ORPHA:90650
2316	FLNA	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:90652
2316	FLNA	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:2484
2316	FLNA	HP:0006487	Bowing of the long bones	1/1	OMIM:304120
2316	FLNA	HP:0000365	Hearing impairment	HP:0040281	ORPHA:90650
2316	FLNA	HP:0000365	Hearing impairment	HP:0040281	ORPHA:90652
2316	FLNA	HP:0000365	Hearing impairment	HP:0040281	ORPHA:1826
2316	FLNA	HP:0000365	Hearing impairment	6/9	OMIM:305620
2316	FLNA	HP:0000365	Hearing impairment	10/67	OMIM:131300
2316	FLNA	HP:0000365	Hearing impairment	HP:0040282	ORPHA:2484
2316	FLNA	HP:0000358	Posteriorly rotated ears	-	OMIM:304120
2316	FLNA	HP:0000369	Low-set ears	HP:0040281	ORPHA:90652
2316	FLNA	HP:0000369	Low-set ears	-	OMIM:304120
2316	FLNA	HP:0000369	Low-set ears	-	OMIM:300244
2316	FLNA	HP:0000369	Low-set ears	-	OMIM:300048
2316	FLNA	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:99811
2316	FLNA	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:2484
2316	FLNA	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:90652
2316	FLNA	HP:0000343	Long philtrum	HP:0040284	ORPHA:555877
2316	FLNA	HP:0000343	Long philtrum	1/7	OMIM:615777
2316	FLNA	HP:0011001	Increased bone mineral density	-	OMIM:131300
2316	FLNA	HP:0011001	Increased bone mineral density	HP:0040282	ORPHA:90650
2316	FLNA	HP:0011001	Increased bone mineral density	HP:0040282	ORPHA:90652
2316	FLNA	HP:0000337	Broad forehead	HP:0040281	ORPHA:90652
2316	FLNA	HP:0000337	Broad forehead	-	OMIM:187500
2316	FLNA	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:98892
2316	FLNA	HP:0000336	Prominent supraorbital ridges	HP:0040284	OMIM:314400
2316	FLNA	HP:0000336	Prominent supraorbital ridges	HP:0040281	ORPHA:2484
2316	FLNA	HP:0000336	Prominent supraorbital ridges	9/9	OMIM:305620
2316	FLNA	HP:0000336	Prominent supraorbital ridges	HP:0040281	ORPHA:1826
2316	FLNA	HP:0000336	Prominent supraorbital ridges	-	OMIM:309350
2316	FLNA	HP:0000336	Prominent supraorbital ridges	-	OMIM:311300
2316	FLNA	HP:0000336	Prominent supraorbital ridges	HP:0040281	ORPHA:90650
2316	FLNA	HP:0000336	Prominent supraorbital ridges	HP:0040281	ORPHA:90652
2316	FLNA	HP:0002996	Limited elbow movement	5/11	OMIM:305620
2316	FLNA	HP:0002996	Limited elbow movement	HP:0040282	ORPHA:1826
2316	FLNA	HP:0000349	Widow's peak	1/1	OMIM:304120
2316	FLNA	HP:0000347	Micrognathia	HP:0040282	ORPHA:90652
2316	FLNA	HP:0000347	Micrognathia	HP:0040281	ORPHA:1826
2316	FLNA	HP:0000347	Micrognathia	HP:0040284	ORPHA:555877
2316	FLNA	HP:0000347	Micrognathia	-	OMIM:309350
2316	FLNA	HP:0000347	Micrognathia	2/2	OMIM:304120
2316	FLNA	HP:0000347	Micrognathia	HP:0040281	ORPHA:2484
2316	FLNA	HP:0002982	Tibial bowing	-	OMIM:304120
2316	FLNA	HP:0002982	Tibial bowing	-	OMIM:309350
2316	FLNA	HP:0002980	Femoral bowing	1/1	OMIM:304120
2316	FLNA	HP:0002980	Femoral bowing	11/18	OMIM:311300
2316	FLNA	HP:0000319	Smooth philtrum	-	OMIM:300048
2316	FLNA	HP:0001647	Bicuspid aortic valve	HP:0040284	OMIM:314400
2316	FLNA	HP:0001647	Bicuspid aortic valve	1/11	OMIM:300049
2316	FLNA	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:555877
2316	FLNA	HP:0000316	Hypertelorism	HP:0040281	ORPHA:90650
2316	FLNA	HP:0000316	Hypertelorism	HP:0040281	ORPHA:90652
2316	FLNA	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1826
2316	FLNA	HP:0000316	Hypertelorism	HP:0040284	ORPHA:555877
2316	FLNA	HP:0000316	Hypertelorism	-	OMIM:309350
2316	FLNA	HP:0000316	Hypertelorism	-	OMIM:305620
2316	FLNA	HP:0000316	Hypertelorism	-	OMIM:304120
2316	FLNA	HP:0000316	Hypertelorism	HP:0040283	ORPHA:88630
2316	FLNA	HP:0000316	Hypertelorism	HP:0040284	OMIM:314400
2316	FLNA	HP:0000316	Hypertelorism	4/6	OMIM:300244
2316	FLNA	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2484
2316	FLNA	HP:0000316	Hypertelorism	-	OMIM:311300
2316	FLNA	HP:0000316	Hypertelorism	-	OMIM:300048
2316	FLNA	HP:0001648	Cor pulmonale	-	OMIM:305620
2316	FLNA	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:555877
2316	FLNA	HP:0001643	Patent ductus arteriosus	HP:0040281	ORPHA:99811
2316	FLNA	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:98892
2316	FLNA	HP:0001643	Patent ductus arteriosus	3/11	OMIM:300049
2316	FLNA	HP:0001643	Patent ductus arteriosus	-	OMIM:300048
2316	FLNA	HP:0000311	Round face	2/7	OMIM:615777
2316	FLNA	HP:0000331	Short chin	-	OMIM:305620
2316	FLNA	HP:0002990	Fibular aplasia	HP:0040282	ORPHA:90652
2316	FLNA	HP:0001659	Aortic regurgitation	13/14	OMIM:314400
2316	FLNA	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:98892
2316	FLNA	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:555877
2316	FLNA	HP:0002986	Radial bowing	-	OMIM:304120
2316	FLNA	HP:0001654	Abnormal heart valve morphology	HP:0040282	ORPHA:98892
2316	FLNA	HP:0001654	Abnormal heart valve morphology	HP:0040282	ORPHA:90652
2316	FLNA	HP:0002987	Elbow flexion contracture	-	OMIM:305620
2316	FLNA	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:1826
2316	FLNA	HP:0001653	Mitral regurgitation	23/30	OMIM:314400
2316	FLNA	HP:0001653	Mitral regurgitation	HP:0040284	ORPHA:88630
2316	FLNA	HP:0001653	Mitral regurgitation	HP:0040281	ORPHA:555877
2316	FLNA	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:2484
2316	FLNA	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:88630
2316	FLNA	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:1826
2316	FLNA	HP:0002970	Genu varum	-	OMIM:615777
2316	FLNA	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
2316	FLNA	HP:0001635	Congestive heart failure	-	OMIM:314400
2316	FLNA	HP:0000307	Pointed chin	-	OMIM:305620
2316	FLNA	HP:0001631	Atrial septal defect	1/1	OMIM:304120
2316	FLNA	HP:0000303	Mandibular prognathia	-	OMIM:131300
2316	FLNA	HP:0001634	Mitral valve prolapse	4/30	OMIM:314400
2316	FLNA	HP:0001634	Mitral valve prolapse	-	OMIM:305620
2316	FLNA	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:555877
2316	FLNA	HP:0001634	Mitral valve prolapse	-	OMIM:309350
2316	FLNA	HP:0031624	Moderate myopia	HP:0040283	ORPHA:555877
2316	FLNA	HP:0006692	Short chordae tendineae of the tricuspid valve	-	OMIM:314400
2316	FLNA	HP:0006665	Coat hanger sign of ribs	-	OMIM:305620
2316	FLNA	HP:0001723	Restrictive cardiomyopathy	HP:0040284	ORPHA:88630
2316	FLNA	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:1826
2316	FLNA	HP:0000407	Sensorineural hearing impairment	-	OMIM:305620
2316	FLNA	HP:0000403	Recurrent otitis media	-	OMIM:309350
2316	FLNA	HP:0000405	Conductive hearing impairment	-	OMIM:304120
2316	FLNA	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:1826
2316	FLNA	HP:0000405	Conductive hearing impairment	-	OMIM:311300
2316	FLNA	HP:0000400	Macrotia	-	OMIM:309350
2316	FLNA	HP:0001704	Tricuspid valve prolapse	-	OMIM:309350
2316	FLNA	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:90650
2316	FLNA	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:90652
2316	FLNA	HP:0005280	Depressed nasal bridge	-	OMIM:304120
2316	FLNA	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2316	FLNA	HP:0000483	Astigmatism	HP:0040283	ORPHA:1826
2316	FLNA	HP:0000486	Strabismus	-	OMIM:309350
2316	FLNA	HP:0000486	Strabismus	2/11	OMIM:300049
2316	FLNA	HP:0000481	Abnormal cornea morphology	HP:0040283	ORPHA:1826
2316	FLNA	HP:0012471	Thick vermilion border	HP:0040284	OMIM:314400
2316	FLNA	HP:0012471	Thick vermilion border	2/3	OMIM:300244
2316	FLNA	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:90650
2316	FLNA	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:90652
2316	FLNA	HP:0000494	Downslanted palpebral fissures	-	OMIM:304120
2316	FLNA	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:1826
2316	FLNA	HP:0000494	Downslanted palpebral fissures	-	OMIM:311300
2316	FLNA	HP:0000494	Downslanted palpebral fissures	7/11	OMIM:305620
2316	FLNA	HP:0000494	Downslanted palpebral fissures	-	OMIM:300048
2316	FLNA	HP:0000472	Long neck	-	OMIM:309350
2316	FLNA	HP:0000470	Short neck	1/1	OMIM:304120
2316	FLNA	HP:0000470	Short neck	1/7	OMIM:615777
2316	FLNA	HP:0001770	Toe syndactyly	-	OMIM:304120
2316	FLNA	HP:0001770	Toe syndactyly	-	OMIM:311300
2316	FLNA	HP:0000437	Depressed nasal tip	HP:0040283	ORPHA:88630
2316	FLNA	HP:0000437	Depressed nasal tip	2/6	OMIM:300244
2316	FLNA	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2316	FLNA	HP:0001763	Pes planus	-	OMIM:309350
2316	FLNA	HP:0001763	Pes planus	1/7	OMIM:615777
2316	FLNA	HP:0001763	Pes planus	HP:0040283	ORPHA:555877
2316	FLNA	HP:0001782	Bulbous tips of toes	-	OMIM:311300
2316	FLNA	HP:0001782	Bulbous tips of toes	-	OMIM:304120
2316	FLNA	HP:0000411	Protruding ear	-	OMIM:300321
2316	FLNA	HP:0000410	Mixed hearing impairment	HP:0040283	ORPHA:1826
2316	FLNA	HP:0001762	Talipes equinovarus	-	OMIM:309350
2316	FLNA	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:90650
2316	FLNA	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1826
2316	FLNA	HP:0000431	Wide nasal bridge	-	OMIM:311300
2316	FLNA	HP:0000431	Wide nasal bridge	-	OMIM:305620
2316	FLNA	HP:0001761	Pes cavus	HP:0040283	ORPHA:1826
2316	FLNA	HP:0005446	Obtuse angle of mandible	-	OMIM:309350
2316	FLNA	HP:0001850	Abnormality of the tarsal bones	HP:0040283	ORPHA:90650
2316	FLNA	HP:0000518	Cataract	HP:0040283	ORPHA:90652
2316	FLNA	HP:0000518	Cataract	1/1	OMIM:304120
2316	FLNA	HP:0001840	Metatarsus adductus	-	OMIM:615777
2316	FLNA	HP:0001852	Sandal gap	HP:0040281	ORPHA:90650
2316	FLNA	HP:0001852	Sandal gap	-	OMIM:311300
2316	FLNA	HP:0000520	Proptosis	2/4	OMIM:131300
2316	FLNA	HP:0000520	Proptosis	HP:0040281	ORPHA:2484
2316	FLNA	HP:0000520	Proptosis	-	OMIM:187500
2316	FLNA	HP:0000520	Proptosis	-	OMIM:309350
2316	FLNA	HP:0000520	Proptosis	7/7	OMIM:615777
2316	FLNA	HP:0001838	Rocker bottom foot	-	OMIM:304120
2316	FLNA	HP:0000506	Telecanthus	4/6	OMIM:300244
2316	FLNA	HP:0000508	Ptosis	HP:0040284	OMIM:314400
2316	FLNA	HP:0000508	Ptosis	-	OMIM:300244
2316	FLNA	HP:0001833	Long foot	-	OMIM:305620
2316	FLNA	HP:0001836	Camptodactyly of toe	-	OMIM:300244
2316	FLNA	HP:0000501	Glaucoma	1/1	OMIM:304120
2316	FLNA	HP:0001831	Short toe	-	OMIM:300244
2316	FLNA	HP:0011246	Underdeveloped superior crus of antihelix	-	OMIM:300321
2316	FLNA	HP:0000582	Upslanted palpebral fissure	2/4	OMIM:300244
2316	FLNA	HP:0000592	Blue sclerae	2/7	OMIM:615777
2316	FLNA	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:98892
2316	FLNA	HP:0011220	Prominent forehead	-	OMIM:300321
2316	FLNA	HP:0011220	Prominent forehead	-	OMIM:304120
2316	FLNA	HP:0001863	Toe clinodactyly	-	OMIM:300244
2316	FLNA	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2316	FLNA	HP:0012514	Lower limb pain	4/4	OMIM:131300
2316	FLNA	HP:0001873	Thrombocytopenia	-	OMIM:300048
2317	FLNB	HP:0001188	Hand clenching	HP:0040283	ORPHA:56305
2317	FLNB	HP:0001156	Brachydactyly	-	OMIM:143095
2317	FLNB	HP:0001156	Brachydactyly	-	OMIM:272460
2317	FLNB	HP:0001156	Brachydactyly	HP:0040281	ORPHA:503
2317	FLNB	HP:0001156	Brachydactyly	HP:0040282	ORPHA:1190
2317	FLNB	HP:0001156	Brachydactyly	-	OMIM:108720
2317	FLNB	HP:0009882	Short distal phalanx of finger	-	OMIM:143095
2317	FLNB	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:503
2317	FLNB	HP:0008551	Microtia	-	OMIM:143095
2317	FLNB	HP:0003745	Sporadic	-	OMIM:108720
2317	FLNB	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2317	FLNB	HP:0001293	Cranial nerve compression	-	OMIM:131300
2317	FLNB	HP:0001252	Hypotonia	2/7	OMIM:615777
2317	FLNB	HP:0001249	Intellectual disability	HP:0040283	ORPHA:503
2317	FLNB	HP:0001249	Intellectual disability	0/9	OMIM:143095
2317	FLNB	HP:0001249	Intellectual disability	3/20	OMIM:150250
2317	FLNB	HP:0001249	Intellectual disability	5/7	OMIM:615777
2317	FLNB	HP:0001248	Short tubular bones of the hand	HP:0040282	ORPHA:56305
2317	FLNB	HP:0001263	Global developmental delay	HP:0040283	ORPHA:56305
2317	FLNB	HP:0001263	Global developmental delay	-	OMIM:615777
2317	FLNB	HP:0001234	Hitchhiker thumb	-	OMIM:108721
2317	FLNB	HP:0001241	Capitate-hamate fusion	-	OMIM:272460
2317	FLNB	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:503
2317	FLNB	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:1263
2317	FLNB	HP:0008755	Laryngotracheomalacia	HP:0040283	ORPHA:56305
2317	FLNB	HP:0008755	Laryngotracheomalacia	HP:0040283	ORPHA:503
2317	FLNB	HP:0100856	Poorly ossified vertebrae	HP:0040281	ORPHA:1263
2317	FLNB	HP:0100864	Short femoral neck	-	OMIM:143095
2317	FLNB	HP:0006060	Tombstone-shaped proximal phalanges	-	OMIM:108721
2317	FLNB	HP:0006067	Multiple carpal ossification centers	-	OMIM:143095
2317	FLNB	HP:0006067	Multiple carpal ossification centers	-	OMIM:150250
2317	FLNB	HP:0031095	Abnormal humerus morphology	HP:0040282	ORPHA:56305
2317	FLNB	HP:0031095	Abnormal humerus morphology	HP:0040282	ORPHA:1263
2317	FLNB	HP:0003865	Bowed humerus	-	OMIM:272460
2317	FLNB	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:143095
2317	FLNB	HP:0003883	Tapered humerus	3/16	OMIM:150250
2317	FLNB	HP:0001222	Spatulate thumbs	17/18	OMIM:150250
2317	FLNB	HP:0001217	Clubbing	-	OMIM:108720
2317	FLNB	HP:0001216	Delayed ossification of carpal bones	HP:0040283	ORPHA:3275
2317	FLNB	HP:0002515	Waddling gait	54/102	OMIM:131300
2317	FLNB	HP:0002515	Waddling gait	-	OMIM:143095
2317	FLNB	HP:0003862	Absent humerus	HP:0040283	ORPHA:56305
2317	FLNB	HP:0003826	Stillbirth	-	OMIM:108720
2317	FLNB	HP:0003834	Shoulder dislocation	-	OMIM:143095
2317	FLNB	HP:0003811	Neonatal death	-	OMIM:112310
2317	FLNB	HP:0003811	Neonatal death	-	OMIM:108720
2317	FLNB	HP:0001377	Limited elbow extension	-	OMIM:272460
2317	FLNB	HP:0001371	Flexion contracture	-	OMIM:143095
2317	FLNB	HP:0001373	Joint dislocation	HP:0040283	ORPHA:1190
2317	FLNB	HP:0001373	Joint dislocation	-	OMIM:143095
2317	FLNB	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:503
2317	FLNB	HP:0001382	Joint hypermobility	-	OMIM:150250
2317	FLNB	HP:0001382	Joint hypermobility	-	OMIM:615777
2317	FLNB	HP:0000023	Inguinal hernia	-	OMIM:272460
2317	FLNB	HP:0002677	Small foramen magnum	-	OMIM:272460
2317	FLNB	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:503
2317	FLNB	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2317	FLNB	HP:0002691	Platybasia	-	OMIM:272460
2317	FLNB	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:503
2317	FLNB	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1263
2317	FLNB	HP:0000028	Cryptorchidism	-	OMIM:108720
2317	FLNB	HP:0000028	Cryptorchidism	-	OMIM:150250
2317	FLNB	HP:0008890	Severe short-limb dwarfism	HP:0040281	ORPHA:1263
2317	FLNB	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2317	FLNB	HP:0008873	Disproportionate short-limb short stature	-	OMIM:108720
2317	FLNB	HP:0006200	Widened distal phalanges	-	OMIM:108721
2317	FLNB	HP:0008857	Neonatal short-trunk short stature	HP:0040283	ORPHA:1190
2317	FLNB	HP:0008824	Hypoplastic iliac body	-	OMIM:112310
2317	FLNB	HP:0003902	Epiphyseal stippling of the humerus	HP:0040283	ORPHA:56305
2317	FLNB	HP:0003994	Dislocated wrist	-	OMIM:150250
2317	FLNB	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2317	FLNB	HP:0002656	Epiphyseal dysplasia	-	OMIM:272460
2317	FLNB	HP:0001324	Muscle weakness	40/96	OMIM:131300
2317	FLNB	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:143095
2317	FLNB	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2317	FLNB	HP:0000007	Autosomal recessive inheritance	-	OMIM:272460
2317	FLNB	HP:0000007	Autosomal recessive inheritance	-	OMIM:143095
2317	FLNB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2317	FLNB	HP:0000006	Autosomal dominant inheritance	-	OMIM:108721
2317	FLNB	HP:0000006	Autosomal dominant inheritance	-	OMIM:108720
2317	FLNB	HP:0000006	Autosomal dominant inheritance	-	OMIM:150250
2317	FLNB	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2317	FLNB	HP:0000006	Autosomal dominant inheritance	-	OMIM:112310
2317	FLNB	HP:0002650	Scoliosis	HP:0040283	ORPHA:503
2317	FLNB	HP:0002650	Scoliosis	9/9	OMIM:143095
2317	FLNB	HP:0002650	Scoliosis	-	OMIM:272460
2317	FLNB	HP:0002650	Scoliosis	HP:0040282	ORPHA:3275
2317	FLNB	HP:0002650	Scoliosis	HP:0040283	ORPHA:1190
2317	FLNB	HP:0002650	Scoliosis	12/14	OMIM:131300
2317	FLNB	HP:0002650	Scoliosis	-	OMIM:108721
2317	FLNB	HP:0002650	Scoliosis	12/20	OMIM:150250
2317	FLNB	HP:0003974	Absent radius	HP:0040283	ORPHA:56305
2317	FLNB	HP:0003974	Absent radius	-	OMIM:112310
2317	FLNB	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2317	FLNB	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:272460
2317	FLNB	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2317	FLNB	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2317	FLNB	HP:0008905	Rhizomelia	HP:0040282	ORPHA:1190
2317	FLNB	HP:0008905	Rhizomelia	-	OMIM:143095
2317	FLNB	HP:0008905	Rhizomelia	-	OMIM:108721
2317	FLNB	HP:0008905	Rhizomelia	-	OMIM:108720
2317	FLNB	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2317	FLNB	HP:0000175	Cleft palate	-	OMIM:272460
2317	FLNB	HP:0000175	Cleft palate	HP:0040283	ORPHA:503
2317	FLNB	HP:0000175	Cleft palate	HP:0040283	ORPHA:3275
2317	FLNB	HP:0000175	Cleft palate	HP:0040283	ORPHA:1190
2317	FLNB	HP:0000175	Cleft palate	-	OMIM:108721
2317	FLNB	HP:0000175	Cleft palate	-	OMIM:108720
2317	FLNB	HP:0000175	Cleft palate	3/20	OMIM:150250
2317	FLNB	HP:0000175	Cleft palate	2/7	OMIM:615777
2317	FLNB	HP:0006352	Failure of eruption of permanent teeth	-	OMIM:272460
2317	FLNB	HP:0005008	Large joint dislocations	HP:0040281	ORPHA:503
2317	FLNB	HP:0006297	Enamel hypoplasia	-	OMIM:272460
2317	FLNB	HP:0006297	Enamel hypoplasia	HP:0040282	ORPHA:3275
2317	FLNB	HP:0007598	Bilateral single transverse palmar creases	-	OMIM:143095
2317	FLNB	HP:0002780	Bronchomalacia	-	OMIM:150250
2317	FLNB	HP:0002779	Tracheomalacia	-	OMIM:150250
2317	FLNB	HP:0002777	Tracheal stenosis	-	OMIM:150250
2317	FLNB	HP:0000107	Renal cyst	-	OMIM:272460
2317	FLNB	HP:6000952	Delayed toe phalanx ossification	-	OMIM:108720
2317	FLNB	HP:0002751	Kyphoscoliosis	-	OMIM:143095
2317	FLNB	HP:0002750	Delayed skeletal maturation	-	OMIM:143095
2317	FLNB	HP:0002750	Delayed skeletal maturation	-	OMIM:272460
2317	FLNB	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:3275
2317	FLNB	HP:0030992	Abnormal pancreatic duct morphology	HP:0040283	ORPHA:1190
2317	FLNB	HP:0002007	Frontal bossing	-	OMIM:272460
2317	FLNB	HP:0002007	Frontal bossing	HP:0040283	ORPHA:3275
2317	FLNB	HP:0002007	Frontal bossing	-	OMIM:108721
2317	FLNB	HP:0002007	Frontal bossing	-	OMIM:108720
2317	FLNB	HP:0002007	Frontal bossing	-	OMIM:150250
2317	FLNB	HP:0003311	Hypoplasia of the odontoid process	-	OMIM:272460
2317	FLNB	HP:0003307	Hyperlordosis	-	OMIM:272460
2317	FLNB	HP:0003305	Block vertebrae	-	OMIM:272460
2317	FLNB	HP:0003304	Spondylolysis	-	OMIM:150250
2317	FLNB	HP:0003319	Abnormality of the cervical spine	HP:0040283	ORPHA:503
2317	FLNB	HP:0003301	Irregular vertebral endplates	-	OMIM:143095
2317	FLNB	HP:0004632	Cervical segmentation defect	-	OMIM:108721
2317	FLNB	HP:0011800	Midface retrusion	HP:0040282	ORPHA:1190
2317	FLNB	HP:0011800	Midface retrusion	-	OMIM:108721
2317	FLNB	HP:0011800	Midface retrusion	-	OMIM:108720
2317	FLNB	HP:0011800	Midface retrusion	19/20	OMIM:150250
2317	FLNB	HP:0002089	Pulmonary hypoplasia	HP:0040282	ORPHA:1190
2317	FLNB	HP:0002084	Encephalocele	-	OMIM:108720
2317	FLNB	HP:0002092	Pulmonary arterial hypertension	-	OMIM:143095
2317	FLNB	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:56305
2317	FLNB	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:503
2317	FLNB	HP:0002091	Restrictive ventilatory defect	-	OMIM:272460
2317	FLNB	HP:0003388	Easy fatigability	36/76	OMIM:131300
2317	FLNB	HP:0010446	Tricuspid stenosis	-	OMIM:143095
2317	FLNB	HP:0008127	Bipartite calcaneus	-	OMIM:150250
2317	FLNB	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2317	FLNB	HP:0100569	Abnormally ossified vertebrae	HP:0040281	ORPHA:1263
2317	FLNB	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:503
2317	FLNB	HP:0005905	Abnormal cervical curvature	HP:0040283	ORPHA:56305
2317	FLNB	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:1263
2317	FLNB	HP:0004785	Malrotation of colon	HP:0040283	ORPHA:1190
2317	FLNB	HP:0003440	Horizontal sacrum	-	OMIM:108721
2317	FLNB	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:503
2317	FLNB	HP:0003422	Vertebral segmentation defect	-	OMIM:272460
2317	FLNB	HP:0003417	Coronal cleft vertebrae	-	OMIM:143095
2317	FLNB	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:108720
2317	FLNB	HP:0003417	Coronal cleft vertebrae	HP:0040282	ORPHA:56305
2317	FLNB	HP:0003417	Coronal cleft vertebrae	HP:0040282	ORPHA:1190
2317	FLNB	HP:0002194	Delayed gross motor development	-	OMIM:143095
2317	FLNB	HP:0003498	Disproportionate short stature	HP:0040282	ORPHA:3275
2317	FLNB	HP:0002176	Spinal cord compression	-	OMIM:150250
2317	FLNB	HP:0100490	Camptodactyly of finger	-	OMIM:143095
2317	FLNB	HP:0011849	Abnormal bone ossification	HP:0040281	ORPHA:1263
2317	FLNB	HP:0010585	Small epiphyses	9/9	OMIM:143095
2317	FLNB	HP:0003593	Infantile onset	9/9	OMIM:143095
2317	FLNB	HP:0003577	Congenital onset	6/6	OMIM:143095
2317	FLNB	HP:0003577	Congenital onset	1/1	OMIM:108720
2317	FLNB	HP:0004894	Laryngotracheal stenosis	HP:0040283	ORPHA:1190
2317	FLNB	HP:0008417	Vertebral hypoplasia	HP:0040282	ORPHA:56305
2317	FLNB	HP:0008417	Vertebral hypoplasia	1/1	OMIM:108720
2317	FLNB	HP:0009702	Carpal synostosis	-	OMIM:272460
2317	FLNB	HP:0009702	Carpal synostosis	HP:0040282	ORPHA:3275
2317	FLNB	HP:0002280	Enlarged cisterna magna	HP:0040283	ORPHA:1190
2317	FLNB	HP:0008368	Tarsal synostosis	-	OMIM:272460
2317	FLNB	HP:0008368	Tarsal synostosis	HP:0040282	ORPHA:3275
2317	FLNB	HP:0003510	Severe short stature	-	OMIM:112310
2317	FLNB	HP:0003510	Severe short stature	7/7	OMIM:615777
2317	FLNB	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:272460
2317	FLNB	HP:0003691	Scapular winging	-	OMIM:272460
2317	FLNB	HP:0002315	Headache	-	OMIM:131300
2317	FLNB	HP:0004976	Knee dislocation	HP:0040282	ORPHA:56305
2317	FLNB	HP:0004976	Knee dislocation	16/20	OMIM:150250
2317	FLNB	HP:0004976	Knee dislocation	6/6	OMIM:143095
2317	FLNB	HP:0004976	Knee dislocation	6/7	OMIM:615777
2317	FLNB	HP:0004976	Knee dislocation	-	OMIM:108721
2317	FLNB	HP:0004976	Knee dislocation	1/1	OMIM:108720
2317	FLNB	HP:0009826	Limb undergrowth	HP:0040282	ORPHA:1190
2317	FLNB	HP:0009826	Limb undergrowth	1/1	OMIM:108720
2317	FLNB	HP:0009836	Broad distal phalanx of finger	HP:0040281	ORPHA:503
2317	FLNB	HP:0009803	Short phalanx of finger	-	OMIM:143095
2317	FLNB	HP:0009803	Short phalanx of finger	-	OMIM:615777
2317	FLNB	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:143095
2317	FLNB	HP:0008456	C2-C3 subluxation	-	OMIM:272460
2317	FLNB	HP:0010743	Short metatarsal	-	OMIM:108720
2317	FLNB	HP:0010743	Short metatarsal	-	OMIM:150250
2317	FLNB	HP:0009763	Limb pain	63/92	OMIM:131300
2317	FLNB	HP:0008434	Hypoplastic cervical vertebrae	-	OMIM:150250
2317	FLNB	HP:0003621	Juvenile onset	-	OMIM:131300
2317	FLNB	HP:0004942	Aortic aneurysm	-	OMIM:150250
2317	FLNB	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2317	FLNB	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:272460
2317	FLNB	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2317	FLNB	HP:0004232	Accessory carpal bones	-	OMIM:150250
2317	FLNB	HP:0004232	Accessory carpal bones	HP:0040282	ORPHA:503
2317	FLNB	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:1190
2317	FLNB	HP:6001056	Out-toeing	-	OMIM:131300
2317	FLNB	HP:0000651	Diplopia	-	OMIM:131300
2317	FLNB	HP:6001057	Ankle dislocation	-	OMIM:108720
2317	FLNB	HP:0001956	Truncal obesity	2/7	OMIM:615777
2317	FLNB	HP:0001903	Anemia	HP:0040283	OMIM:131300
2317	FLNB	HP:0010049	Short metacarpal	-	OMIM:143095
2317	FLNB	HP:0010049	Short metacarpal	-	OMIM:615777
2317	FLNB	HP:0010049	Short metacarpal	-	OMIM:108720
2317	FLNB	HP:0010049	Short metacarpal	-	OMIM:272460
2317	FLNB	HP:0010049	Short metacarpal	-	OMIM:150250
2317	FLNB	HP:0000684	Delayed eruption of teeth	-	OMIM:143095
2317	FLNB	HP:0000678	Dental crowding	-	OMIM:615777
2317	FLNB	HP:0000691	Microdontia	-	OMIM:143095
2317	FLNB	HP:0000687	Widely spaced teeth	-	OMIM:143095
2317	FLNB	HP:0000670	Carious teeth	-	OMIM:131300
2317	FLNB	HP:0011304	Broad thumb	2/7	OMIM:615777
2317	FLNB	HP:0011304	Broad thumb	HP:0040281	ORPHA:503
2317	FLNB	HP:0000668	Hypodontia	-	OMIM:615777
2317	FLNB	HP:0000668	Hypodontia	-	OMIM:150250
2317	FLNB	HP:0000664	Synophrys	-	OMIM:615777
2317	FLNB	HP:0004322	Short stature	HP:0040283	ORPHA:503
2317	FLNB	HP:0004322	Short stature	15/15	OMIM:143095
2317	FLNB	HP:0004322	Short stature	14/20	OMIM:150250
2317	FLNB	HP:0005619	Thoracolumbar kyphosis	HP:0040283	ORPHA:56305
2317	FLNB	HP:0003071	Flattened epiphysis	-	OMIM:143095
2317	FLNB	HP:0003083	Dislocated radial head	6/6	OMIM:143095
2317	FLNB	HP:0004396	Poor appetite	-	OMIM:131300
2317	FLNB	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2317	FLNB	HP:0003031	Ulnar bowing	-	OMIM:143095
2317	FLNB	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2317	FLNB	HP:0003049	Ulnar deviation of the wrist	HP:0040283	ORPHA:56305
2317	FLNB	HP:0003042	Elbow dislocation	HP:0040282	ORPHA:56305
2317	FLNB	HP:0003042	Elbow dislocation	-	OMIM:143095
2317	FLNB	HP:0003042	Elbow dislocation	-	OMIM:108721
2317	FLNB	HP:0003042	Elbow dislocation	1/1	OMIM:108720
2317	FLNB	HP:0003042	Elbow dislocation	13/20	OMIM:150250
2317	FLNB	HP:0003040	Arthropathy	-	OMIM:143095
2317	FLNB	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2317	FLNB	HP:0003026	Short long bone	HP:0040283	ORPHA:1190
2317	FLNB	HP:0003026	Short long bone	7/7	OMIM:615777
2317	FLNB	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2317	FLNB	HP:0003022	Hypoplasia of the ulna	-	OMIM:143095
2317	FLNB	HP:0009107	Abnormal ossification involving the femoral head and neck	HP:0040282	ORPHA:1190
2317	FLNB	HP:0000767	Pectus excavatum	-	OMIM:150250
2317	FLNB	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2317	FLNB	HP:0000768	Pectus carinatum	-	OMIM:272460
2317	FLNB	HP:0000768	Pectus carinatum	-	OMIM:150250
2317	FLNB	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2317	FLNB	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:3275
2317	FLNB	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2317	FLNB	HP:0000750	Delayed speech and language development	-	OMIM:615777
2317	FLNB	HP:0009179	Deviation of the 5th finger	-	OMIM:143095
2317	FLNB	HP:0011461	Fetal onset	7/7	OMIM:615777
2317	FLNB	HP:0000774	Narrow chest	HP:0040282	ORPHA:1190
2317	FLNB	HP:0000774	Narrow chest	-	OMIM:108720
2317	FLNB	HP:0000774	Narrow chest	HP:0040281	ORPHA:1263
2317	FLNB	HP:0000774	Narrow chest	2/7	OMIM:615777
2317	FLNB	HP:0005736	Short tibia	HP:0040283	ORPHA:56305
2317	FLNB	HP:0003196	Short nose	-	OMIM:272460
2317	FLNB	HP:0003196	Short nose	-	OMIM:108720
2317	FLNB	HP:0000914	Shield chest	-	OMIM:143095
2317	FLNB	HP:0000926	Platyspondyly	HP:0040283	ORPHA:1190
2317	FLNB	HP:0000926	Platyspondyly	1/7	OMIM:615777
2317	FLNB	HP:0003184	Decreased hip abduction	-	OMIM:143095
2317	FLNB	HP:0003180	Flat acetabular roof	-	OMIM:615777
2317	FLNB	HP:0003180	Flat acetabular roof	-	OMIM:108721
2317	FLNB	HP:0004482	Relative macrocephaly	-	OMIM:615777
2317	FLNB	HP:0005792	Short humerus	-	OMIM:108720
2317	FLNB	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2317	FLNB	HP:0000878	11 pairs of ribs	-	OMIM:108720
2317	FLNB	HP:0000890	Long clavicles	1/1	OMIM:108720
2317	FLNB	HP:0003097	Short femur	-	OMIM:108720
2317	FLNB	HP:0003097	Short femur	HP:0040282	ORPHA:1190
2317	FLNB	HP:0003093	Limited hip extension	9/9	OMIM:143095
2317	FLNB	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:143095
2317	FLNB	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040281	ORPHA:1263
2317	FLNB	HP:0000823	Delayed puberty	-	OMIM:131300
2317	FLNB	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:1263
2317	FLNB	HP:0000894	Short clavicles	-	OMIM:615777
2317	FLNB	HP:0004568	Beaking of vertebral bodies	-	OMIM:150250
2317	FLNB	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2317	FLNB	HP:0003298	Spina bifida occulta	-	OMIM:150250
2317	FLNB	HP:0045075	Sparse eyebrow	-	OMIM:143095
2317	FLNB	HP:0004599	Absent or minimally ossified vertebral bodies	HP:0040282	ORPHA:1190
2317	FLNB	HP:0004592	Thoracic platyspondyly	-	OMIM:108720
2317	FLNB	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040282	ORPHA:1263
2317	FLNB	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2317	FLNB	HP:0009381	Short finger	1/1	OMIM:108720
2317	FLNB	HP:0007703	Abnormality of retinal pigmentation	HP:0040284	OMIM:272460
2317	FLNB	HP:6000970	Diminished sulfotransferase activity in cultured fibroblasts	2/2	OMIM:143095
2317	FLNB	HP:0000286	Epicanthus	1/7	OMIM:615777
2317	FLNB	HP:0000283	Broad face	-	OMIM:272460
2317	FLNB	HP:0000280	Coarse facial features	2/7	OMIM:615777
2317	FLNB	HP:0001591	Bell-shaped thorax	1/1	OMIM:108720
2317	FLNB	HP:0000272	Malar flattening	-	OMIM:108721
2317	FLNB	HP:0000272	Malar flattening	-	OMIM:108720
2317	FLNB	HP:0000272	Malar flattening	-	OMIM:150250
2317	FLNB	HP:0000272	Malar flattening	HP:0040281	ORPHA:503
2317	FLNB	HP:0000269	Prominent occiput	-	OMIM:108721
2317	FLNB	HP:0006471	Fixed elbow flexion	-	OMIM:143095
2317	FLNB	HP:0006462	Generalized bone demineralization	-	OMIM:143095
2317	FLNB	HP:0005104	Hypoplastic nasal septum	-	OMIM:112310
2317	FLNB	HP:0006406	Club-shaped proximal femur	-	OMIM:108720
2317	FLNB	HP:0006408	Distal tapering femur	HP:0040282	ORPHA:56305
2317	FLNB	HP:0006408	Distal tapering femur	-	OMIM:108720
2317	FLNB	HP:0002818	Abnormal morphology of the radius	HP:0040282	ORPHA:1263
2317	FLNB	HP:0002816	Genu recurvatum	3/6	OMIM:143095
2317	FLNB	HP:0002812	Coxa vara	-	OMIM:272460
2317	FLNB	HP:0002829	Arthralgia	-	OMIM:143095
2317	FLNB	HP:0002827	Hip dislocation	HP:0040282	ORPHA:56305
2317	FLNB	HP:0002827	Hip dislocation	16/20	OMIM:150250
2317	FLNB	HP:0002827	Hip dislocation	3/7	OMIM:615777
2317	FLNB	HP:0002823	Abnormal femur morphology	HP:0040282	ORPHA:1263
2317	FLNB	HP:0002808	Kyphosis	-	OMIM:143095
2317	FLNB	HP:0006384	Club-shaped distal femur	HP:0040283	ORPHA:56305
2317	FLNB	HP:0000252	Microcephaly	-	OMIM:615777
2317	FLNB	HP:0001552	Barrel-shaped chest	-	OMIM:143095
2317	FLNB	HP:0000218	High palate	HP:0040283	ORPHA:56305
2317	FLNB	HP:0000218	High palate	-	OMIM:143095
2317	FLNB	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:56305
2317	FLNB	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:1190
2317	FLNB	HP:0001561	Polyhydramnios	-	OMIM:108720
2317	FLNB	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:1263
2317	FLNB	HP:0002857	Genu valgum	-	OMIM:131300
2317	FLNB	HP:0002857	Genu valgum	-	OMIM:143095
2317	FLNB	HP:0001539	Omphalocele	HP:0040282	ORPHA:1263
2317	FLNB	HP:0001538	Protuberant abdomen	1/1	OMIM:108720
2317	FLNB	HP:0001533	Slender build	-	OMIM:131300
2317	FLNB	HP:0000204	Cleft upper lip	-	OMIM:150250
2317	FLNB	HP:0001511	Intrauterine growth retardation	-	OMIM:150250
2317	FLNB	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2317	FLNB	HP:0007807	Optic nerve compression	-	OMIM:131300
2317	FLNB	HP:0000384	Preauricular skin tag	-	OMIM:272460
2317	FLNB	HP:0012368	Flat face	7/7	OMIM:615777
2317	FLNB	HP:0012368	Flat face	HP:0040281	ORPHA:503
2317	FLNB	HP:0012368	Flat face	-	OMIM:150250
2317	FLNB	HP:0005257	Thoracic hypoplasia	HP:0040283	ORPHA:56305
2317	FLNB	HP:0005257	Thoracic hypoplasia	HP:0040282	ORPHA:1190
2317	FLNB	HP:0005257	Thoracic hypoplasia	1/1	OMIM:108720
2317	FLNB	HP:0002938	Lumbar hyperlordosis	-	OMIM:143095
2317	FLNB	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2317	FLNB	HP:0002938	Lumbar hyperlordosis	HP:0040282	ORPHA:3275
2317	FLNB	HP:0001602	Laryngeal stenosis	HP:0040283	ORPHA:1190
2317	FLNB	HP:0001602	Laryngeal stenosis	-	OMIM:108720
2317	FLNB	HP:0002948	Vertebral fusion	-	OMIM:272460
2317	FLNB	HP:0002948	Vertebral fusion	8/16	OMIM:150250
2317	FLNB	HP:0002948	Vertebral fusion	HP:0040282	ORPHA:3275
2317	FLNB	HP:0002949	Fused cervical vertebrae	-	OMIM:108720
2317	FLNB	HP:0002947	Cervical kyphosis	-	OMIM:150250
2317	FLNB	HP:0002947	Cervical kyphosis	-	OMIM:108721
2317	FLNB	HP:0002945	Intervertebral space narrowing	9/9	OMIM:143095
2317	FLNB	HP:0002945	Intervertebral space narrowing	HP:0040282	ORPHA:3275
2317	FLNB	HP:0005180	Tricuspid regurgitation	-	OMIM:143095
2317	FLNB	HP:0006492	Aplasia/Hypoplasia of the fibula	HP:0040281	ORPHA:1263
2317	FLNB	HP:0006495	Aplasia/Hypoplasia of the ulna	-	OMIM:108720
2317	FLNB	HP:0000365	Hearing impairment	-	OMIM:143095
2317	FLNB	HP:0000365	Hearing impairment	HP:0040282	ORPHA:3275
2317	FLNB	HP:0000365	Hearing impairment	10/67	OMIM:131300
2317	FLNB	HP:0000365	Hearing impairment	4/19	OMIM:150250
2317	FLNB	HP:0000369	Low-set ears	HP:0040283	ORPHA:1190
2317	FLNB	HP:0000369	Low-set ears	1/1	OMIM:108720
2317	FLNB	HP:0000343	Long philtrum	HP:0040282	OMIM:143095
2317	FLNB	HP:0000343	Long philtrum	1/7	OMIM:615777
2317	FLNB	HP:0011001	Increased bone mineral density	-	OMIM:131300
2317	FLNB	HP:0000337	Broad forehead	HP:0040282	OMIM:143095
2317	FLNB	HP:0002999	Patellar dislocation	HP:0040282	ORPHA:56305
2317	FLNB	HP:0000347	Micrognathia	HP:0040283	ORPHA:56305
2317	FLNB	HP:0000347	Micrognathia	HP:0040283	ORPHA:1190
2317	FLNB	HP:0000347	Micrognathia	-	OMIM:108721
2317	FLNB	HP:0000347	Micrognathia	1/1	OMIM:108720
2317	FLNB	HP:0002982	Tibial bowing	-	OMIM:143095
2317	FLNB	HP:0002982	Tibial bowing	-	OMIM:108721
2317	FLNB	HP:0002982	Tibial bowing	-	OMIM:108720
2317	FLNB	HP:0001650	Aortic valve stenosis	-	OMIM:143095
2317	FLNB	HP:0002983	Micromelia	HP:0040281	ORPHA:1263
2317	FLNB	HP:0000316	Hypertelorism	HP:0040281	ORPHA:503
2317	FLNB	HP:0000316	Hypertelorism	-	OMIM:143095
2317	FLNB	HP:0000316	Hypertelorism	-	OMIM:272460
2317	FLNB	HP:0000316	Hypertelorism	HP:0040283	ORPHA:1190
2317	FLNB	HP:0000316	Hypertelorism	1/1	OMIM:108720
2317	FLNB	HP:0000316	Hypertelorism	-	OMIM:150250
2317	FLNB	HP:0000311	Round face	2/7	OMIM:615777
2317	FLNB	HP:0001642	Pulmonic stenosis	-	OMIM:143095
2317	FLNB	HP:0002991	Abnormal fibula morphology	HP:0040282	ORPHA:1190
2317	FLNB	HP:0002992	Abnormal tibia morphology	HP:0040281	ORPHA:1263
2317	FLNB	HP:0002990	Fibular aplasia	HP:0040283	ORPHA:56305
2317	FLNB	HP:0002990	Fibular aplasia	-	OMIM:112310
2317	FLNB	HP:0002990	Fibular aplasia	1/1	OMIM:108720
2317	FLNB	HP:0000327	Hypoplasia of the maxilla	-	OMIM:108721
2317	FLNB	HP:0001659	Aortic regurgitation	-	OMIM:143095
2317	FLNB	HP:0002986	Radial bowing	-	OMIM:108721
2317	FLNB	HP:0002986	Radial bowing	-	OMIM:108720
2317	FLNB	HP:0001653	Mitral regurgitation	-	OMIM:143095
2317	FLNB	HP:0001629	Ventricular septal defect	-	OMIM:143095
2317	FLNB	HP:0001629	Ventricular septal defect	-	OMIM:150250
2317	FLNB	HP:0001626	Abnormality of the cardiovascular system	HP:0040283	ORPHA:503
2317	FLNB	HP:0001623	Breech presentation	3/6	OMIM:143095
2317	FLNB	HP:0001622	Premature birth	-	OMIM:108720
2317	FLNB	HP:0002970	Genu varum	-	OMIM:615777
2317	FLNB	HP:0002967	Cubitus valgus	-	OMIM:143095
2317	FLNB	HP:0001631	Atrial septal defect	-	OMIM:150250
2317	FLNB	HP:0000303	Mandibular prognathia	-	OMIM:131300
2317	FLNB	HP:0007957	Corneal opacity	-	OMIM:150250
2317	FLNB	HP:0006610	Wide intermamillary distance	-	OMIM:143095
2317	FLNB	HP:0007973	Retinal dysplasia	HP:0040283	ORPHA:1190
2317	FLNB	HP:0000407	Sensorineural hearing impairment	-	OMIM:272460
2317	FLNB	HP:0000405	Conductive hearing impairment	-	OMIM:150250
2317	FLNB	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:503
2317	FLNB	HP:0001718	Mitral stenosis	-	OMIM:143095
2317	FLNB	HP:0001714	Ventricular hypertrophy	-	OMIM:143095
2317	FLNB	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:503
2317	FLNB	HP:0005280	Depressed nasal bridge	-	OMIM:108721
2317	FLNB	HP:0005280	Depressed nasal bridge	1/1	OMIM:108720
2317	FLNB	HP:0005280	Depressed nasal bridge	-	OMIM:150250
2317	FLNB	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2317	FLNB	HP:0000463	Anteverted nares	-	OMIM:272460
2317	FLNB	HP:0001789	Hydrops fetalis	HP:0040282	ORPHA:1263
2317	FLNB	HP:0000455	Broad nasal tip	-	OMIM:272460
2317	FLNB	HP:0000470	Short neck	-	OMIM:143095
2317	FLNB	HP:0000470	Short neck	-	OMIM:272460
2317	FLNB	HP:0000470	Short neck	HP:0040283	ORPHA:3275
2317	FLNB	HP:0000470	Short neck	-	OMIM:108721
2317	FLNB	HP:0000470	Short neck	-	OMIM:108720
2317	FLNB	HP:0000470	Short neck	1/7	OMIM:615777
2317	FLNB	HP:0001799	Short nail	-	OMIM:150250
2317	FLNB	HP:0001799	Short nail	HP:0040281	ORPHA:503
2317	FLNB	HP:0001772	Talipes equinovalgus	-	OMIM:150250
2317	FLNB	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2317	FLNB	HP:0001763	Pes planus	-	OMIM:143095
2317	FLNB	HP:0001763	Pes planus	-	OMIM:272460
2317	FLNB	HP:0001763	Pes planus	1/7	OMIM:615777
2317	FLNB	HP:0001763	Pes planus	HP:0040283	ORPHA:3275
2317	FLNB	HP:0000410	Mixed hearing impairment	-	OMIM:272460
2317	FLNB	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:56305
2317	FLNB	HP:0001762	Talipes equinovarus	6/6	OMIM:143095
2317	FLNB	HP:0001762	Talipes equinovarus	-	OMIM:272460
2317	FLNB	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:3275
2317	FLNB	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:1190
2317	FLNB	HP:0001762	Talipes equinovarus	-	OMIM:108721
2317	FLNB	HP:0001762	Talipes equinovarus	-	OMIM:108720
2317	FLNB	HP:0001762	Talipes equinovarus	15/20	OMIM:150250
2317	FLNB	HP:0000431	Wide nasal bridge	-	OMIM:112310
2317	FLNB	HP:0000430	Underdeveloped nasal alae	-	OMIM:112310
2317	FLNB	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040282	ORPHA:1263
2317	FLNB	HP:0000518	Cataract	-	OMIM:272460
2317	FLNB	HP:0001840	Metatarsus adductus	-	OMIM:615777
2317	FLNB	HP:0001852	Sandal gap	-	OMIM:108721
2317	FLNB	HP:0000520	Proptosis	HP:0040283	ORPHA:1190
2317	FLNB	HP:0000520	Proptosis	2/4	OMIM:131300
2317	FLNB	HP:0000520	Proptosis	-	OMIM:108720
2317	FLNB	HP:0000520	Proptosis	7/7	OMIM:615777
2317	FLNB	HP:0000506	Telecanthus	HP:0040283	ORPHA:1190
2317	FLNB	HP:0030330	Multinucleated giant chondrocytes in epiphyseal cartilage	-	OMIM:108720
2317	FLNB	HP:0000592	Blue sclerae	2/7	OMIM:615777
2317	FLNB	HP:0000586	Shallow orbits	-	OMIM:150250
2317	FLNB	HP:0011220	Prominent forehead	-	OMIM:150250
2317	FLNB	HP:0011220	Prominent forehead	HP:0040281	ORPHA:503
2317	FLNB	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2317	FLNB	HP:0001883	Talipes	1/1	OMIM:108720
2317	FLNB	HP:0012514	Lower limb pain	4/4	OMIM:131300
2318	FLNC	HP:0025168	Left ventricular diastolic dysfunction	HP:0040283	ORPHA:171445
2318	FLNC	HP:0003722	Neck flexor weakness	HP:0040284	ORPHA:171445
2318	FLNC	HP:0003738	Exercise-induced myalgia	HP:0040281	ORPHA:63273
2318	FLNC	HP:0003701	Proximal muscle weakness	-	OMIM:614065
2318	FLNC	HP:0003701	Proximal muscle weakness	-	OMIM:609524
2318	FLNC	HP:0003715	Myofibrillar myopathy	-	OMIM:609524
2318	FLNC	HP:0001297	Stroke	2/8	OMIM:617047
2318	FLNC	HP:0001297	Stroke	HP:0040284	ORPHA:75249
2318	FLNC	HP:0001288	Gait disturbance	HP:0040281	ORPHA:63273
2318	FLNC	HP:0001288	Gait disturbance	HP:0040282	ORPHA:171445
2318	FLNC	HP:0001279	Syncope	HP:0040284	ORPHA:75249
2318	FLNC	HP:0001265	Hyporeflexia	-	OMIM:614065
2318	FLNC	HP:0002540	Inability to walk	HP:0040281	ORPHA:63273
2318	FLNC	HP:0002515	Waddling gait	-	OMIM:609524
2318	FLNC	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:75249
2318	FLNC	HP:0410011	Abnormality of masticatory muscle	HP:0040284	ORPHA:171445
2318	FLNC	HP:0031177	Finger flexor weakness	HP:0040282	ORPHA:63273
2318	FLNC	HP:0006135	Decreased finger mobility	HP:0040283	ORPHA:63273
2318	FLNC	HP:0001324	Muscle weakness	-	OMIM:614065
2318	FLNC	HP:0000006	Autosomal dominant inheritance	-	OMIM:617047
2318	FLNC	HP:0000006	Autosomal dominant inheritance	-	OMIM:614065
2318	FLNC	HP:0000006	Autosomal dominant inheritance	-	OMIM:609524
2318	FLNC	HP:0002600	Hyporeflexia of lower limbs	HP:0040281	ORPHA:63273
2318	FLNC	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040283	ORPHA:63273
2318	FLNC	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040281	ORPHA:171445
2318	FLNC	HP:0008959	Distal upper limb muscle weakness	HP:0040283	ORPHA:63273
2318	FLNC	HP:0008954	Intrinsic hand muscle atrophy	HP:0040281	ORPHA:63273
2318	FLNC	HP:0008944	Distal lower limb amyotrophy	-	OMIM:614065
2318	FLNC	HP:0031295	Left atrial enlargement	3/18	OMIM:617047
2318	FLNC	HP:0031295	Left atrial enlargement	HP:0040282	ORPHA:75249
2318	FLNC	HP:0001430	Abnormal calf musculature morphology	-	OMIM:614065
2318	FLNC	HP:0002747	Respiratory insufficiency due to muscle weakness	-	ORPHA:63273
2318	FLNC	HP:0003326	Myalgia	HP:0040284	ORPHA:171445
2318	FLNC	HP:0002015	Dysphagia	-	ORPHA:63273
2318	FLNC	HP:0002094	Dyspnea	HP:0040283	ORPHA:75249
2318	FLNC	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:171445
2318	FLNC	HP:0002093	Respiratory insufficiency	-	OMIM:609524
2318	FLNC	HP:0030950	Pulmonary venous hypertension	HP:0040282	ORPHA:75249
2318	FLNC	HP:0011711	Left anterior fascicular block	1/21	OMIM:617047
2318	FLNC	HP:0011712	Complete right bundle branch block	HP:0040283	ORPHA:171445
2318	FLNC	HP:0011713	Left bundle branch block	1/8	OMIM:617047
2318	FLNC	HP:0100598	Pulmonary edema	HP:0040283	ORPHA:75249
2318	FLNC	HP:0008180	Mildly elevated creatine kinase	-	OMIM:614065
2318	FLNC	HP:0008180	Mildly elevated creatine kinase	HP:0040281	ORPHA:171445
2318	FLNC	HP:0003474	Somatic sensory dysfunction	-	ORPHA:63273
2318	FLNC	HP:0002141	Gait imbalance	HP:0040282	ORPHA:63273
2318	FLNC	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:171445
2318	FLNC	HP:0003427	Thenar muscle weakness	-	OMIM:614065
2318	FLNC	HP:0004754	Permanent atrial fibrillation	2/21	OMIM:617047
2318	FLNC	HP:0003418	Back pain	HP:0040282	ORPHA:171445
2318	FLNC	HP:0003596	Middle age onset	11/28	OMIM:617047
2318	FLNC	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:75249
2318	FLNC	HP:0003584	Late onset	2/21	OMIM:617047
2318	FLNC	HP:0003581	Adult onset	-	OMIM:609524
2318	FLNC	HP:0003555	Muscle fiber splitting	HP:0040282	ORPHA:171445
2318	FLNC	HP:0003555	Muscle fiber splitting	-	OMIM:609524
2318	FLNC	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:171445
2318	FLNC	HP:0003551	Difficulty climbing stairs	-	OMIM:609524
2318	FLNC	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:75249
2318	FLNC	HP:0003691	Scapular winging	HP:0040283	ORPHA:171445
2318	FLNC	HP:0003677	Slowly progressive	-	OMIM:614065
2318	FLNC	HP:0003677	Slowly progressive	-	OMIM:609524
2318	FLNC	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:171445
2318	FLNC	HP:0007149	Distal upper limb amyotrophy	-	OMIM:614065
2318	FLNC	HP:0003621	Juvenile onset	2/7	OMIM:617047
2318	FLNC	HP:0001907	Thromboembolism	HP:0040284	ORPHA:75249
2318	FLNC	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:63273
2318	FLNC	HP:0009046	Difficulty running	HP:0040282	ORPHA:63273
2318	FLNC	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:63273
2318	FLNC	HP:0000759	Abnormal peripheral nervous system morphology	-	OMIM:609524
2318	FLNC	HP:0011463	Childhood onset	1/7	OMIM:617047
2318	FLNC	HP:0011462	Young adult onset	-	OMIM:614065
2318	FLNC	HP:0011462	Young adult onset	12/28	OMIM:617047
2318	FLNC	HP:0012764	Orthopnea	HP:0040283	ORPHA:75249
2318	FLNC	HP:0003198	Myopathy	-	OMIM:614065
2318	FLNC	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	-	OMIM:609524
2318	FLNC	HP:0030718	Right atrial enlargement	2/8	OMIM:617047
2318	FLNC	HP:0030718	Right atrial enlargement	HP:0040282	ORPHA:75249
2318	FLNC	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:609524
2318	FLNC	HP:0003202	Skeletal muscle atrophy	-	OMIM:614065
2318	FLNC	HP:0034392	Joint contracture	HP:0040283	ORPHA:171445
2318	FLNC	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:75249
2318	FLNC	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:75249
2318	FLNC	HP:0005110	Atrial fibrillation	4/8	OMIM:617047
2318	FLNC	HP:0006389	Limited knee flexion	HP:0040282	ORPHA:63273
2318	FLNC	HP:0031329	Interstitial cardiac fibrosis	HP:0040282	ORPHA:75249
2318	FLNC	HP:0012398	Peripheral edema	HP:0040283	ORPHA:75249
2318	FLNC	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040283	ORPHA:63273
2318	FLNC	HP:0030177	Abnormality of peripheral nervous system electrophysiology	HP:0040283	ORPHA:171445
2318	FLNC	HP:0005184	Prolonged QTc interval	2/8	OMIM:617047
2318	FLNC	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:75249
2318	FLNC	HP:0005162	Abnormal left ventricular function	HP:0040281	ORPHA:75249
2318	FLNC	HP:0001678	Atrioventricular block	1/8	OMIM:617047
2318	FLNC	HP:0001645	Sudden cardiac death	5/21	OMIM:617047
2318	FLNC	HP:0001653	Mitral regurgitation	HP:0040283	OMIM:617047
2318	FLNC	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:75249
2318	FLNC	HP:0001626	Abnormality of the cardiovascular system	HP:0040283	ORPHA:63273
2318	FLNC	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:617047
2318	FLNC	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:75249
2318	FLNC	HP:0001635	Congestive heart failure	6/8	OMIM:617047
2318	FLNC	HP:0001638	Cardiomyopathy	-	OMIM:614065
2318	FLNC	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:171445
2318	FLNC	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:63273
2318	FLNC	HP:0030319	Weakness of facial musculature	HP:0040283	ORPHA:63273
2318	FLNC	HP:0030319	Weakness of facial musculature	HP:0040283	ORPHA:171445
2318	FLNC	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:171445
2318	FLNC	HP:0030235	Extremely elevated creatine kinase	HP:0040284	ORPHA:171445
2318	FLNC	HP:0012548	Fatty replacement of skeletal muscle	HP:0040283	ORPHA:171445
2318	FLNC	HP:0012515	Hip flexor weakness	HP:0040282	ORPHA:63273
2321	FLT1	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:275555
2321	FLT1	HP:0000093	Proteinuria	HP:0040281	ORPHA:275555
2321	FLT1	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:275555
2321	FLT1	HP:0000147	Polycystic ovaries	HP:0040284	ORPHA:275555
2321	FLT1	HP:0410019	Epigastric pain	HP:0040282	ORPHA:275555
2321	FLT1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:275555
2321	FLT1	HP:0100598	Pulmonary edema	HP:0040282	ORPHA:275555
2321	FLT1	HP:0100767	Abnormal placenta morphology	HP:0040281	ORPHA:275555
2321	FLT1	HP:0002360	Sleep abnormality	HP:0040284	ORPHA:275555
2321	FLT1	HP:0002315	Headache	HP:0040283	ORPHA:275555
2321	FLT1	HP:0100651	Type I diabetes mellitus	HP:0040284	ORPHA:275555
2321	FLT1	HP:0012622	Chronic kidney disease	HP:0040284	ORPHA:275555
2321	FLT1	HP:0001919	Acute kidney injury	HP:0040284	ORPHA:275555
2321	FLT1	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:275555
2321	FLT1	HP:0004421	Elevated systolic blood pressure	HP:0040281	ORPHA:275555
2321	FLT1	HP:0000822	Hypertension	HP:0040281	ORPHA:275555
2321	FLT1	HP:0003259	Elevated circulating creatinine concentration	HP:0040284	ORPHA:275555
2321	FLT1	HP:0031418	Increased body mass index	HP:0040283	ORPHA:275555
2321	FLT1	HP:0005117	Elevated diastolic blood pressure	HP:0040281	ORPHA:275555
2321	FLT1	HP:0001518	Small for gestational age	HP:0040283	ORPHA:275555
2321	FLT1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:275555
2321	FLT1	HP:0005202	Helicobacter pylori infection	HP:0040284	ORPHA:275555
2321	FLT1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:275555
2321	FLT1	HP:0002960	Autoimmunity	HP:0040284	ORPHA:275555
2321	FLT1	HP:0006707	Abnormality of the hepatic vasculature	HP:0040283	ORPHA:275555
2321	FLT1	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:275555
2321	FLT1	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:275555
2322	FLT3	HP:0010982	Polygenic inheritance	-	OMIM:613065
2322	FLT3	HP:0000006	Autosomal dominant inheritance	-	OMIM:601626
2322	FLT3	HP:0001442	Typified by somatic mosaicism	-	OMIM:601626
2322	FLT3	HP:0001442	Typified by somatic mosaicism	-	OMIM:613065
2322	FLT3	HP:0004808	Acute myeloid leukemia	-	OMIM:601626
2322	FLT3	HP:0006721	Acute lymphoblastic leukemia	-	OMIM:613065
2324	FLT4	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3303
2324	FLT4	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:3303
2324	FLT4	HP:0003759	Hypoplasia of lymphatic vessels	4/4	OMIM:153100
2324	FLT4	HP:0007448	Hyperkeratosis over edematous areas	-	OMIM:153100
2324	FLT4	HP:0032344	Upslanting toenail	10/71	OMIM:153100
2324	FLT4	HP:0012020	Right aortic arch	-	OMIM:618780
2324	FLT4	HP:0000034	Hydrocele testis	13/35	OMIM:153100
2324	FLT4	HP:0000034	Hydrocele testis	HP:0040282	ORPHA:79452
2324	FLT4	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3303
2324	FLT4	HP:0001328	Specific learning disability	HP:0040283	ORPHA:79452
2324	FLT4	HP:0000006	Autosomal dominant inheritance	-	OMIM:153100
2324	FLT4	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
2324	FLT4	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
2324	FLT4	HP:0000006	Autosomal dominant inheritance	-	OMIM:618780
2324	FLT4	HP:0000006	Autosomal dominant inheritance	-	OMIM:602089
2324	FLT4	HP:0002619	Varicose veins	-	OMIM:153400
2324	FLT4	HP:0002619	Varicose veins	HP:0040282	ORPHA:79452
2324	FLT4	HP:0002624	Abnormal venous morphology	HP:0040282	ORPHA:79452
2324	FLT4	HP:0000175	Cleft palate	5/39	OMIM:153400
2324	FLT4	HP:0003593	Infantile onset	2/2	OMIM:602089
2324	FLT4	HP:0003577	Congenital onset	-	OMIM:153100
2324	FLT4	HP:0003550	Predominantly lower limb lymphedema	64/71	OMIM:153100
2324	FLT4	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
2324	FLT4	HP:0003550	Predominantly lower limb lymphedema	HP:0040282	ORPHA:79452
2324	FLT4	HP:0009743	Distichiasis	42/42	OMIM:153400
2324	FLT4	HP:0100797	Toenail dysplasia	HP:0040282	ORPHA:79452
2324	FLT4	HP:0100725	Lichenification	HP:0040283	ORPHA:79452
2324	FLT4	HP:0001055	Erysipelas	HP:0040284	ORPHA:79452
2324	FLT4	HP:0001028	Hemangioma	-	OMIM:153100
2324	FLT4	HP:0001004	Lymphedema	HP:0040281	ORPHA:79452
2324	FLT4	HP:0001004	Lymphedema	-	OMIM:153400
2324	FLT4	HP:0001015	Prominent superficial veins	16/71	OMIM:153100
2324	FLT4	HP:0100658	Cellulitis	14/71	OMIM:153100
2324	FLT4	HP:0100658	Cellulitis	HP:0040282	ORPHA:79452
2324	FLT4	HP:0100658	Cellulitis	2/6	OMIM:153400
2324	FLT4	HP:0200058	Angiosarcoma	HP:0040283	ORPHA:79452
2324	FLT4	HP:0010741	Pedal edema	HP:0040282	ORPHA:79452
2324	FLT4	HP:0004935	Pulmonary artery atresia	-	OMIM:618780
2324	FLT4	HP:0031834	Aortopulmonary collateral arteries	-	OMIM:618780
2324	FLT4	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
2324	FLT4	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:3303
2324	FLT4	HP:0000613	Photophobia	10/49	OMIM:153400
2324	FLT4	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
2324	FLT4	HP:0000656	Ectropion	2/43	OMIM:153400
2324	FLT4	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:79452
2324	FLT4	HP:0003011	Abnormality of the musculature	-	OMIM:153400
2324	FLT4	HP:0012740	Papilloma	7/71	OMIM:153100
2324	FLT4	HP:0000739	Anxiety	4/9	OMIM:618780
2324	FLT4	HP:0000716	Depression	4/9	OMIM:618780
2324	FLT4	HP:0000708	Atypical behavior	HP:0040283	ORPHA:79452
2324	FLT4	HP:0004467	Preauricular pit	HP:0040282	ORPHA:3303
2324	FLT4	HP:0004467	Preauricular pit	-	OMIM:187500
2324	FLT4	HP:0012804	Corneal ulceration	-	OMIM:153400
2324	FLT4	HP:0011590	Double aortic arch	-	OMIM:618780
2324	FLT4	HP:0010310	Chylothorax	1/6	OMIM:153400
2324	FLT4	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:79452
2324	FLT4	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:79452
2324	FLT4	HP:0011675	Arrhythmia	-	OMIM:153400
2324	FLT4	HP:0000286	Epicanthus	HP:0040283	ORPHA:79452
2324	FLT4	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:3303
2324	FLT4	HP:0005134	Absence of the pulmonary valve	-	OMIM:618780
2324	FLT4	HP:0005105	Abnormal nasal morphology	HP:0040281	ORPHA:3303
2324	FLT4	HP:0002808	Kyphosis	2/5	OMIM:153400
2324	FLT4	HP:0012227	Urethral stricture	2/35	OMIM:153100
2324	FLT4	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:3303
2324	FLT4	HP:0000204	Cleft upper lip	-	OMIM:153400
2324	FLT4	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3303
2324	FLT4	HP:0000337	Broad forehead	-	OMIM:187500
2324	FLT4	HP:0000337	Broad forehead	HP:0040281	ORPHA:3303
2324	FLT4	HP:0000347	Micrognathia	2/5	OMIM:153400
2324	FLT4	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
2324	FLT4	HP:0001642	Pulmonic stenosis	-	OMIM:618780
2324	FLT4	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
2324	FLT4	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:3303
2324	FLT4	HP:0001636	Tetralogy of Fallot	-	OMIM:618780
2324	FLT4	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
2324	FLT4	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
2324	FLT4	HP:0005306	Capillary hemangioma	2/2	OMIM:602089
2324	FLT4	HP:0000476	Cystic hygroma	2/43	OMIM:153400
2324	FLT4	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
2324	FLT4	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	OMIM:153100
2324	FLT4	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
2324	FLT4	HP:0001785	Ankle swelling	HP:0040282	ORPHA:79452
2324	FLT4	HP:0000465	Webbed neck	6/43	OMIM:153400
2324	FLT4	HP:0000520	Proptosis	-	OMIM:187500
2324	FLT4	HP:0000520	Proptosis	HP:0040282	ORPHA:3303
2324	FLT4	HP:0000509	Conjunctivitis	-	OMIM:153400
2324	FLT4	HP:0000508	Ptosis	2/39	OMIM:153400
2324	FLT4	HP:0000568	Microphthalmia	1/6	OMIM:153400
2328	FMO3	HP:0008770	Obsessive-compulsive trait	HP:0040283	ORPHA:468726
2328	FMO3	HP:0000007	Autosomal recessive inheritance	-	OMIM:602079
2328	FMO3	HP:0410020	Fish odor	HP:0040280	ORPHA:468726
2328	FMO3	HP:0011999	Paranoia	HP:0040283	ORPHA:468726
2328	FMO3	HP:0003614	Trimethylaminuria	-	OMIM:602079
2328	FMO3	HP:0003614	Trimethylaminuria	HP:0040281	ORPHA:468726
2328	FMO3	HP:0001903	Anemia	-	OMIM:602079
2328	FMO3	HP:0000739	Anxiety	HP:0040283	ORPHA:468726
2328	FMO3	HP:0000716	Depression	-	OMIM:602079
2328	FMO3	HP:0000716	Depression	HP:0040283	ORPHA:468726
2328	FMO3	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:468726
2328	FMO3	HP:0000712	Emotional lability	HP:0040282	ORPHA:468726
2328	FMO3	HP:0000822	Hypertension	-	OMIM:602079
2328	FMO3	HP:0006532	Recurrent pneumonia	-	OMIM:602079
2328	FMO3	HP:0031467	Abnormal negative emotional state	HP:0040282	ORPHA:468726
2328	FMO3	HP:0031469	Low self-esteem	HP:0040282	ORPHA:468726
2328	FMO3	HP:0001649	Tachycardia	-	OMIM:602079
2328	FMO3	HP:0001744	Splenomegaly	-	OMIM:602079
2328	FMO3	HP:0001875	Decreased total neutrophil count	-	OMIM:602079
2332	FMR1	HP:0001152	Saccadic smooth pursuit	-	OMIM:300623
2332	FMR1	HP:0002457	Abnormal head movements	-	OMIM:300624
2332	FMR1	HP:0008640	Congenital macroorchidism	-	OMIM:300624
2332	FMR1	HP:0001272	Cerebellar atrophy	-	OMIM:300623
2332	FMR1	HP:0001268	Mental deterioration	5/5	OMIM:300623
2332	FMR1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:93256
2332	FMR1	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:261483
2332	FMR1	HP:0001250	Seizure	-	OMIM:300624
2332	FMR1	HP:0001250	Seizure	HP:0040283	ORPHA:908
2332	FMR1	HP:0001252	Hypotonia	HP:0040282	ORPHA:261483
2332	FMR1	HP:0001252	Hypotonia	HP:0040282	ORPHA:908
2332	FMR1	HP:0001251	Ataxia	HP:0040281	ORPHA:93256
2332	FMR1	HP:0001265	Hyporeflexia	-	OMIM:300623
2332	FMR1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:93256
2332	FMR1	HP:0001260	Dysarthria	-	OMIM:300623
2332	FMR1	HP:0001260	Dysarthria	HP:0040281	ORPHA:93256
2332	FMR1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:261483
2332	FMR1	HP:0008770	Obsessive-compulsive trait	-	OMIM:300623
2332	FMR1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:261483
2332	FMR1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:93256
2332	FMR1	HP:0003829	Typified by incomplete penetrance	-	OMIM:300624
2332	FMR1	HP:0002506	Diffuse cerebral atrophy	-	OMIM:300623
2332	FMR1	HP:0006099	Metacarpophalangeal joint hyperextensibility	2/13	OMIM:300624
2332	FMR1	HP:0001382	Joint hypermobility	-	OMIM:300624
2332	FMR1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:908
2332	FMR1	HP:0000053	Macroorchidism	HP:0040281	ORPHA:908
2332	FMR1	HP:0000020	Urinary incontinence	-	OMIM:300623
2332	FMR1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:261483
2332	FMR1	HP:0012083	Ubiquitin-positive cerebral inclusion bodies	HP:0040282	ORPHA:93256
2332	FMR1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:93256
2332	FMR1	HP:0001310	Dysmetria	HP:0040281	ORPHA:93256
2332	FMR1	HP:0001310	Dysmetria	-	OMIM:300623
2332	FMR1	HP:0002650	Scoliosis	-	OMIM:300624
2332	FMR1	HP:0002650	Scoliosis	HP:0040282	ORPHA:908
2332	FMR1	HP:0002615	Hypotension	HP:0040283	ORPHA:93256
2332	FMR1	HP:0001300	Parkinsonism	HP:0040283	ORPHA:93256
2332	FMR1	HP:0001300	Parkinsonism	5/5	OMIM:300623
2332	FMR1	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:93256
2332	FMR1	HP:0002607	Bowel incontinence	-	OMIM:300623
2332	FMR1	HP:0012169	Self-biting	4/13	OMIM:300624
2332	FMR1	HP:0000135	Hypogonadism	HP:0040281	ORPHA:261483
2332	FMR1	HP:0001423	X-linked dominant inheritance	-	OMIM:300623
2332	FMR1	HP:0001423	X-linked dominant inheritance	-	OMIM:300624
2332	FMR1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:261483
2332	FMR1	HP:0001417	X-linked inheritance	-	OMIM:311360
2332	FMR1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:908
2332	FMR1	HP:0002003	Large forehead	HP:0040282	ORPHA:908
2332	FMR1	HP:0002003	Large forehead	3/13	OMIM:300624
2332	FMR1	HP:0003326	Myalgia	HP:0040283	ORPHA:93256
2332	FMR1	HP:0003326	Myalgia	-	OMIM:300623
2332	FMR1	HP:0002015	Dysphagia	HP:0040283	ORPHA:93256
2332	FMR1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:908
2332	FMR1	HP:0002080	Intention tremor	HP:0040281	ORPHA:93256
2332	FMR1	HP:0002080	Intention tremor	5/5	OMIM:300623
2332	FMR1	HP:0002067	Bradykinesia	HP:0040283	ORPHA:93256
2332	FMR1	HP:0002067	Bradykinesia	-	OMIM:300623
2332	FMR1	HP:0002066	Gait ataxia	HP:0040281	ORPHA:93256
2332	FMR1	HP:0002066	Gait ataxia	-	OMIM:300623
2332	FMR1	HP:0002063	Rigidity	HP:0040282	ORPHA:93256
2332	FMR1	HP:0002075	Dysdiadochokinesis	-	OMIM:300623
2332	FMR1	HP:0002050	Macroorchidism, postpubertal	-	OMIM:300624
2332	FMR1	HP:0100515	Pollakisuria	HP:0040282	ORPHA:93256
2332	FMR1	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:93256
2332	FMR1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:908
2332	FMR1	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:908
2332	FMR1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:908
2332	FMR1	HP:0002174	Postural tremor	-	OMIM:300623
2332	FMR1	HP:0002172	Postural instability	HP:0040282	ORPHA:93256
2332	FMR1	HP:0008209	Premature ovarian insufficiency	-	OMIM:311360
2332	FMR1	HP:0008209	Premature ovarian insufficiency	-	OMIM:300623
2332	FMR1	HP:0003584	Late onset	5/5	OMIM:300623
2332	FMR1	HP:0003581	Adult onset	-	OMIM:311360
2332	FMR1	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:908
2332	FMR1	HP:0003564	Folate-dependent fragile site at Xq28	HP:0040281	ORPHA:908
2332	FMR1	HP:0003564	Folate-dependent fragile site at Xq28	-	OMIM:300624
2332	FMR1	HP:0002231	Sparse body hair	HP:0040282	ORPHA:261483
2332	FMR1	HP:0007010	Poor fine motor coordination	-	OMIM:300623
2332	FMR1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:908
2332	FMR1	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:93256
2332	FMR1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:908
2332	FMR1	HP:0002345	Action tremor	-	OMIM:300623
2332	FMR1	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:908
2332	FMR1	HP:0002342	Intellectual disability, moderate	13/13	OMIM:300624
2332	FMR1	HP:0002354	Memory impairment	HP:0040281	ORPHA:93256
2332	FMR1	HP:0002354	Memory impairment	-	OMIM:300623
2332	FMR1	HP:0002322	Resting tremor	-	OMIM:300623
2332	FMR1	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:93256
2332	FMR1	HP:0009830	Peripheral neuropathy	-	OMIM:300623
2332	FMR1	HP:0200055	Small hand	HP:0040281	ORPHA:261483
2332	FMR1	HP:0007165	Periventricular heterotopia	-	OMIM:300624
2332	FMR1	HP:0004970	Ascending tubular aorta aneurysm	HP:0040283	ORPHA:908
2332	FMR1	HP:0006886	Impaired distal vibration sensation	-	OMIM:300623
2332	FMR1	HP:0000639	Nystagmus	-	OMIM:300623
2332	FMR1	HP:0001956	Truncal obesity	HP:0040282	ORPHA:261483
2332	FMR1	HP:0004322	Short stature	HP:0040281	ORPHA:261483
2332	FMR1	HP:0000802	Impotence	HP:0040282	ORPHA:93256
2332	FMR1	HP:0000802	Impotence	5/5	OMIM:300623
2332	FMR1	HP:0000752	Hyperactivity	9/13	OMIM:300624
2332	FMR1	HP:0000771	Gynecomastia	HP:0040282	ORPHA:261483
2332	FMR1	HP:0100023	Recurrent hand flapping	5/13	OMIM:300624
2332	FMR1	HP:0000767	Pectus excavatum	-	OMIM:300624
2332	FMR1	HP:0000737	Irritability	HP:0040282	ORPHA:93256
2332	FMR1	HP:0000737	Irritability	HP:0040283	ORPHA:908
2332	FMR1	HP:0000739	Anxiety	HP:0040282	ORPHA:93256
2332	FMR1	HP:0000739	Anxiety	HP:0040283	ORPHA:908
2332	FMR1	HP:0000739	Anxiety	-	OMIM:300623
2332	FMR1	HP:0000734	Disinhibition	-	OMIM:300623
2332	FMR1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:908
2332	FMR1	HP:0000716	Depression	HP:0040282	ORPHA:93256
2332	FMR1	HP:0000716	Depression	-	OMIM:300623
2332	FMR1	HP:0000717	Autism	-	OMIM:300624
2332	FMR1	HP:0000717	Autism	HP:0040283	ORPHA:908
2332	FMR1	HP:0000713	Agitation	HP:0040282	ORPHA:93256
2332	FMR1	HP:0000726	Dementia	HP:0040281	ORPHA:93256
2332	FMR1	HP:0000726	Dementia	-	OMIM:300623
2332	FMR1	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:93256
2332	FMR1	HP:0011463	Childhood onset	-	OMIM:300624
2332	FMR1	HP:0000858	Irregular menstruation	-	OMIM:311360
2332	FMR1	HP:0000837	Increased circulating gonadotropin level	-	OMIM:311360
2332	FMR1	HP:0000817	Reduced eye contact	8/13	OMIM:300624
2332	FMR1	HP:0000822	Hypertension	HP:0040283	ORPHA:93256
2332	FMR1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:93256
2332	FMR1	HP:0000821	Hypothyroidism	-	OMIM:300623
2332	FMR1	HP:0100275	Diffuse cerebellar atrophy	HP:0040282	ORPHA:93256
2332	FMR1	HP:0000280	Coarse facial features	-	OMIM:300624
2332	FMR1	HP:0000298	Mask-like facies	-	OMIM:300623
2332	FMR1	HP:0000256	Macrocephaly	-	OMIM:300624
2332	FMR1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:908
2332	FMR1	HP:0000275	Narrow face	HP:0040282	ORPHA:908
2332	FMR1	HP:0000276	Long face	HP:0040282	ORPHA:908
2332	FMR1	HP:0000276	Long face	5/13	OMIM:300624
2332	FMR1	HP:0000246	Sinusitis	HP:0040282	ORPHA:908
2332	FMR1	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:261483
2332	FMR1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:261483
2332	FMR1	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040282	ORPHA:93256
2332	FMR1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:261483
2332	FMR1	HP:0000389	Chronic otitis media	HP:0040281	ORPHA:908
2332	FMR1	HP:0000388	Otitis media	HP:0040282	ORPHA:908
2332	FMR1	HP:0000365	Hearing impairment	-	OMIM:300623
2332	FMR1	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	ORPHA:93256
2332	FMR1	HP:0001620	Abnormally high-pitched voice	HP:0040281	ORPHA:261483
2332	FMR1	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:908
2332	FMR1	HP:0000303	Mandibular prognathia	6/13	OMIM:300624
2332	FMR1	HP:0001634	Mitral valve prolapse	-	OMIM:300624
2332	FMR1	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:908
2332	FMR1	HP:0031629	Impaired tandem gait	-	OMIM:300623
2332	FMR1	HP:0000400	Macrotia	HP:0040282	ORPHA:908
2332	FMR1	HP:0000400	Macrotia	6/13	OMIM:300624
2332	FMR1	HP:0030216	Inertia	HP:0040281	ORPHA:93256
2332	FMR1	HP:0000486	Strabismus	HP:0040283	ORPHA:908
2332	FMR1	HP:0000490	Deeply set eye	HP:0040281	ORPHA:261483
2332	FMR1	HP:0001773	Short foot	HP:0040281	ORPHA:261483
2332	FMR1	HP:0001763	Pes planus	HP:0040281	ORPHA:908
2332	FMR1	HP:0001763	Pes planus	-	OMIM:300624
2332	FMR1	HP:0000414	Bulbous nose	HP:0040281	ORPHA:261483
2332	FMR1	HP:0000411	Protruding ear	HP:0040282	ORPHA:908
2332	FMR1	HP:0012534	Dysesthesia	HP:0040282	ORPHA:93256
2334	AFF2	HP:0025116	Fetal distress	1/4	OMIM:309548
2334	AFF2	HP:0009904	Prominent ear helix	HP:0040282	ORPHA:100973
2334	AFF2	HP:0001249	Intellectual disability	9/9	OMIM:309548
2334	AFF2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:100973
2334	AFF2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:100973
2334	AFF2	HP:0012172	Stereotypical body rocking	HP:0040283	ORPHA:100973
2334	AFF2	HP:0012172	Stereotypical body rocking	1/4	OMIM:309548
2334	AFF2	HP:0001419	X-linked recessive inheritance	-	OMIM:309548
2334	AFF2	HP:0100710	Impulsivity	HP:0040282	ORPHA:100973
2334	AFF2	HP:0100710	Impulsivity	-	OMIM:309548
2334	AFF2	HP:0002370	Poor coordination	1/4	OMIM:309548
2334	AFF2	HP:0002312	Clumsiness	HP:0040282	ORPHA:100973
2334	AFF2	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:100973
2334	AFF2	HP:0011341	Long upper lip	1/4	OMIM:309548
2334	AFF2	HP:0004322	Short stature	1/4	OMIM:309548
2334	AFF2	HP:0004322	Short stature	HP:0040282	ORPHA:100973
2334	AFF2	HP:0000752	Hyperactivity	HP:0040282	ORPHA:100973
2334	AFF2	HP:0000752	Hyperactivity	-	OMIM:309548
2334	AFF2	HP:0100023	Recurrent hand flapping	1/4	OMIM:309548
2334	AFF2	HP:0100023	Recurrent hand flapping	HP:0040282	ORPHA:100973
2334	AFF2	HP:0000750	Delayed speech and language development	4/4	OMIM:309548
2334	AFF2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:100973
2334	AFF2	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:100973
2334	AFF2	HP:0000718	Aggressive behavior	1/4	OMIM:309548
2334	AFF2	HP:0000713	Agitation	HP:0040282	ORPHA:100973
2334	AFF2	HP:0000713	Agitation	-	OMIM:309548
2334	AFF2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:100973
2334	AFF2	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:100973
2334	AFF2	HP:0000722	Compulsive behaviors	-	OMIM:309548
2334	AFF2	HP:0000286	Epicanthus	-	OMIM:309548
2334	AFF2	HP:0000286	Epicanthus	HP:0040282	ORPHA:100973
2334	AFF2	HP:0000256	Macrocephaly	HP:0040283	ORPHA:100973
2334	AFF2	HP:0000252	Microcephaly	1/4	OMIM:309548
2334	AFF2	HP:0001511	Intrauterine growth retardation	2/4	OMIM:309548
2334	AFF2	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:100973
2334	AFF2	HP:0001609	Hoarse voice	HP:0040282	ORPHA:100973
2334	AFF2	HP:0001609	Hoarse voice	1/4	OMIM:309548
2334	AFF2	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:100973
2334	AFF2	HP:0012471	Thick vermilion border	1/4	OMIM:309548
2334	AFF2	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:100973
2334	AFF2	HP:0000426	Prominent nasal bridge	-	OMIM:309548
2335	FN1	HP:0003774	Stage 5 chronic kidney disease	3/8	OMIM:601894
2335	FN1	HP:0008577	Underfolded helix	HP:0040283	ORPHA:93315
2335	FN1	HP:0009896	Abnormal antitragus morphology	HP:0040283	ORPHA:93315
2335	FN1	HP:0009882	Short distal phalanx of finger	HP:0040284	ORPHA:93315
2335	FN1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2335	FN1	HP:0032208	Increased urinary type 1 collagen N-terminal telopeptide level	HP:0040284	ORPHA:93315
2335	FN1	HP:0001293	Cranial nerve compression	-	OMIM:131300
2335	FN1	HP:0100820	Glomerulopathy	HP:0040281	ORPHA:84090
2335	FN1	HP:0001252	Hypotonia	2/7	OMIM:615777
2335	FN1	HP:0001249	Intellectual disability	5/7	OMIM:615777
2335	FN1	HP:0001263	Global developmental delay	-	OMIM:615777
2335	FN1	HP:0100864	Short femoral neck	-	OMIM:184255
2335	FN1	HP:0002515	Waddling gait	54/102	OMIM:131300
2335	FN1	HP:0002515	Waddling gait	-	OMIM:184255
2335	FN1	HP:0000083	Renal insufficiency	HP:0040281	ORPHA:84090
2335	FN1	HP:0000083	Renal insufficiency	-	OMIM:601894
2335	FN1	HP:0000093	Proteinuria	HP:0040281	ORPHA:84090
2335	FN1	HP:0000093	Proteinuria	8/8	OMIM:601894
2335	FN1	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:93315
2335	FN1	HP:0001382	Joint hypermobility	-	OMIM:615777
2335	FN1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2335	FN1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2335	FN1	HP:0003908	Corner fracture of metaphysis	-	OMIM:184255
2335	FN1	HP:0003908	Corner fracture of metaphysis	HP:0040281	ORPHA:93315
2335	FN1	HP:0002659	Increased susceptibility to fractures	HP:0040284	ORPHA:93315
2335	FN1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2335	FN1	HP:0001324	Muscle weakness	40/96	OMIM:131300
2335	FN1	HP:0002657	Spondylometaphyseal dysplasia	-	OMIM:184255
2335	FN1	HP:0001342	Cerebral hemorrhage	HP:0040283	ORPHA:84090
2335	FN1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2335	FN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2335	FN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:184255
2335	FN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:601894
2335	FN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2335	FN1	HP:0002650	Scoliosis	12/14	OMIM:131300
2335	FN1	HP:0002650	Scoliosis	7/9	OMIM:184255
2335	FN1	HP:0002650	Scoliosis	HP:0040282	ORPHA:93315
2335	FN1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2335	FN1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2335	FN1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2335	FN1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2335	FN1	HP:0000164	Abnormality of the dentition	HP:0040284	ORPHA:93315
2335	FN1	HP:0000175	Cleft palate	2/7	OMIM:615777
2335	FN1	HP:0000100	Nephrotic syndrome	HP:0040281	ORPHA:84090
2335	FN1	HP:0000100	Nephrotic syndrome	6/8	OMIM:601894
2335	FN1	HP:0003311	Hypoplasia of the odontoid process	-	OMIM:184255
2335	FN1	HP:0003300	Ovoid vertebral bodies	5/8	OMIM:184255
2335	FN1	HP:0003300	Ovoid vertebral bodies	HP:0040281	ORPHA:93315
2335	FN1	HP:0004625	Biconvex vertebral bodies	HP:0040283	ORPHA:93315
2335	FN1	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:93315
2335	FN1	HP:0030949	Glomerular deposits	5/5	OMIM:601894
2335	FN1	HP:0003388	Easy fatigability	36/76	OMIM:131300
2335	FN1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2335	FN1	HP:0004603	Hyperconvex vertebral body endplates	-	OMIM:184255
2335	FN1	HP:0003468	Abnormal vertebral morphology	HP:0040281	ORPHA:93315
2335	FN1	HP:0011849	Abnormal bone ossification	HP:0040282	ORPHA:93315
2335	FN1	HP:0008417	Vertebral hypoplasia	HP:0040283	ORPHA:93315
2335	FN1	HP:0003510	Severe short stature	7/7	OMIM:615777
2335	FN1	HP:0003521	Disproportionate short-trunk short stature	HP:0040282	ORPHA:93315
2335	FN1	HP:0003677	Slowly progressive	-	OMIM:601894
2335	FN1	HP:0002315	Headache	-	OMIM:131300
2335	FN1	HP:0004976	Knee dislocation	6/7	OMIM:615777
2335	FN1	HP:6000428	Glomerular fibronectin deposits	5/5	OMIM:601894
2335	FN1	HP:0009824	Upper limb undergrowth	HP:0040282	ORPHA:93315
2335	FN1	HP:0009803	Short phalanx of finger	-	OMIM:615777
2335	FN1	HP:0008440	C1-C2 vertebral abnormality	HP:0040284	ORPHA:93315
2335	FN1	HP:0010741	Pedal edema	HP:0040281	ORPHA:84090
2335	FN1	HP:0009763	Limb pain	63/92	OMIM:131300
2335	FN1	HP:0009763	Limb pain	HP:0040282	ORPHA:93315
2335	FN1	HP:0008422	Vertebral wedging	HP:0040283	ORPHA:93315
2335	FN1	HP:0003621	Juvenile onset	-	OMIM:601894
2335	FN1	HP:0003621	Juvenile onset	-	OMIM:131300
2335	FN1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2335	FN1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2335	FN1	HP:0001966	Abnormal glomerular mesangium morphology	HP:0040281	ORPHA:84090
2335	FN1	HP:6001056	Out-toeing	-	OMIM:131300
2335	FN1	HP:0000651	Diplopia	-	OMIM:131300
2335	FN1	HP:0001956	Truncal obesity	2/7	OMIM:615777
2335	FN1	HP:0001903	Anemia	HP:0040283	OMIM:131300
2335	FN1	HP:0010049	Short metacarpal	-	OMIM:615777
2335	FN1	HP:0000678	Dental crowding	-	OMIM:615777
2335	FN1	HP:0000670	Carious teeth	-	OMIM:131300
2335	FN1	HP:0011304	Broad thumb	2/7	OMIM:615777
2335	FN1	HP:0000668	Hypodontia	-	OMIM:615777
2335	FN1	HP:0000664	Synophrys	-	OMIM:615777
2335	FN1	HP:0004322	Short stature	8/9	OMIM:184255
2335	FN1	HP:0004322	Short stature	HP:0040281	ORPHA:93315
2335	FN1	HP:0003073	Hypoalbuminemia	HP:0040281	ORPHA:84090
2335	FN1	HP:0004396	Poor appetite	-	OMIM:131300
2335	FN1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2335	FN1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2335	FN1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2335	FN1	HP:0003026	Short long bone	HP:0040282	ORPHA:93315
2335	FN1	HP:0003026	Short long bone	7/7	OMIM:615777
2335	FN1	HP:0003025	Metaphyseal irregularity	8/8	OMIM:184255
2335	FN1	HP:0003025	Metaphyseal irregularity	HP:0040281	ORPHA:93315
2335	FN1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2335	FN1	HP:0004349	Reduced bone mineral density	HP:0040284	ORPHA:93315
2335	FN1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2335	FN1	HP:0000768	Pectus carinatum	4/8	OMIM:184255
2335	FN1	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:93315
2335	FN1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2335	FN1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2335	FN1	HP:0000750	Delayed speech and language development	-	OMIM:615777
2335	FN1	HP:0011462	Young adult onset	-	OMIM:601894
2335	FN1	HP:0011461	Fetal onset	7/7	OMIM:615777
2335	FN1	HP:0000774	Narrow chest	2/7	OMIM:615777
2335	FN1	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040284	ORPHA:93315
2335	FN1	HP:0000926	Platyspondyly	HP:0040283	ORPHA:93315
2335	FN1	HP:0000926	Platyspondyly	1/7	OMIM:615777
2335	FN1	HP:0003180	Flat acetabular roof	-	OMIM:615777
2335	FN1	HP:0004482	Relative macrocephaly	-	OMIM:615777
2335	FN1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2335	FN1	HP:0000822	Hypertension	HP:0040281	ORPHA:84090
2335	FN1	HP:0000822	Hypertension	7/8	OMIM:601894
2335	FN1	HP:0000823	Delayed puberty	-	OMIM:131300
2335	FN1	HP:0000894	Short clavicles	-	OMIM:615777
2335	FN1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2335	FN1	HP:0004586	Biconcave vertebral bodies	HP:0040283	ORPHA:93315
2335	FN1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2335	FN1	HP:0000286	Epicanthus	1/7	OMIM:615777
2335	FN1	HP:0000280	Coarse facial features	2/7	OMIM:615777
2335	FN1	HP:0002812	Coxa vara	3/9	OMIM:184255
2335	FN1	HP:0002812	Coxa vara	HP:0040281	ORPHA:93315
2335	FN1	HP:0002827	Hip dislocation	3/7	OMIM:615777
2335	FN1	HP:0030084	Clinodactyly	HP:0040284	ORPHA:93315
2335	FN1	HP:0006385	Short lower limbs	HP:0040282	ORPHA:93315
2335	FN1	HP:0000252	Microcephaly	-	OMIM:615777
2335	FN1	HP:0000218	High palate	HP:0040283	ORPHA:93315
2335	FN1	HP:0002857	Genu valgum	-	OMIM:131300
2335	FN1	HP:0002857	Genu valgum	HP:0040282	ORPHA:93315
2335	FN1	HP:0001533	Slender build	-	OMIM:131300
2335	FN1	HP:0002866	Hypoplastic iliac wing	HP:0040284	ORPHA:93315
2335	FN1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2335	FN1	HP:0007807	Optic nerve compression	-	OMIM:131300
2335	FN1	HP:0000385	Small earlobe	HP:0040283	ORPHA:93315
2335	FN1	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:93315
2335	FN1	HP:0012368	Flat face	HP:0040283	ORPHA:93315
2335	FN1	HP:0012368	Flat face	7/7	OMIM:615777
2335	FN1	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:93315
2335	FN1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2335	FN1	HP:0002948	Vertebral fusion	HP:0040283	ORPHA:93315
2335	FN1	HP:0002945	Intervertebral space narrowing	HP:0040283	ORPHA:93315
2335	FN1	HP:0002907	Microscopic hematuria	HP:0040281	ORPHA:84090
2335	FN1	HP:0002907	Microscopic hematuria	3/6	OMIM:601894
2335	FN1	HP:0031427	Abnormal circulating osteocalcin level	HP:0040284	ORPHA:93315
2335	FN1	HP:0000365	Hearing impairment	10/67	OMIM:131300
2335	FN1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:93315
2335	FN1	HP:0000343	Long philtrum	1/7	OMIM:615777
2335	FN1	HP:0011001	Increased bone mineral density	-	OMIM:131300
2335	FN1	HP:0002982	Tibial bowing	HP:0040283	ORPHA:93315
2335	FN1	HP:0000311	Round face	2/7	OMIM:615777
2335	FN1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:93315
2335	FN1	HP:0030162	Glomerulomegaly	5/5	OMIM:601894
2335	FN1	HP:0002970	Genu varum	4/8	OMIM:184255
2335	FN1	HP:0002970	Genu varum	HP:0040282	ORPHA:93315
2335	FN1	HP:0002970	Genu varum	-	OMIM:615777
2335	FN1	HP:0000307	Pointed chin	HP:0040283	ORPHA:93315
2335	FN1	HP:0000303	Mandibular prognathia	-	OMIM:131300
2335	FN1	HP:0007906	Ocular hypertension	HP:0040284	ORPHA:93315
2335	FN1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2335	FN1	HP:0000486	Strabismus	HP:0040284	ORPHA:93315
2335	FN1	HP:0000470	Short neck	HP:0040284	ORPHA:93315
2335	FN1	HP:0000470	Short neck	1/7	OMIM:615777
2335	FN1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2335	FN1	HP:0001763	Pes planus	1/7	OMIM:615777
2335	FN1	HP:0000411	Protruding ear	HP:0040283	ORPHA:93315
2335	FN1	HP:0001840	Metatarsus adductus	-	OMIM:615777
2335	FN1	HP:0000520	Proptosis	2/4	OMIM:131300
2335	FN1	HP:0000520	Proptosis	HP:0040283	ORPHA:93315
2335	FN1	HP:0000520	Proptosis	7/7	OMIM:615777
2335	FN1	HP:0000505	Visual impairment	HP:0040283	ORPHA:93315
2335	FN1	HP:0000592	Blue sclerae	2/7	OMIM:615777
2335	FN1	HP:0001891	Iron deficiency anemia	HP:0040284	ORPHA:93315
2335	FN1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2335	FN1	HP:0012514	Lower limb pain	4/4	OMIM:131300
2335	FN1	HP:0000545	Myopia	HP:0040283	ORPHA:93315
2348	FOLR1	HP:0001250	Seizure	-	OMIM:613068
2348	FOLR1	HP:0001249	Intellectual disability	-	OMIM:613068
2348	FOLR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613068
2348	FOLR1	HP:0002180	Neurodegeneration	-	OMIM:613068
2348	FOLR1	HP:0002376	Developmental regression	-	OMIM:613068
2353	FOS	HP:0001176	Large hands	HP:0040283	ORPHA:528
2353	FOS	HP:0003712	Skeletal muscle hypertrophy	HP:0040281	ORPHA:528
2353	FOS	HP:0001249	Intellectual disability	HP:0040282	ORPHA:528
2353	FOS	HP:0001263	Global developmental delay	HP:0040283	ORPHA:528
2353	FOS	HP:0008665	Clitoral hypertrophy	HP:0040283	ORPHA:528
2353	FOS	HP:0012062	Bone cyst	HP:0040283	ORPHA:528
2353	FOS	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:528
2353	FOS	HP:0001394	Cirrhosis	HP:0040283	ORPHA:528
2353	FOS	HP:0008887	Adipose tissue loss	HP:0040281	ORPHA:528
2353	FOS	HP:0000158	Macroglossia	HP:0040283	ORPHA:528
2353	FOS	HP:0000141	Amenorrhea	HP:0040284	ORPHA:528
2353	FOS	HP:0000147	Polycystic ovaries	HP:0040284	ORPHA:528
2353	FOS	HP:0010465	Precocious puberty in females	HP:0040284	ORPHA:528
2353	FOS	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:528
2353	FOS	HP:0002162	Low posterior hairline	HP:0040283	ORPHA:528
2353	FOS	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:528
2353	FOS	HP:0001015	Prominent superficial veins	HP:0040283	ORPHA:528
2353	FOS	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:528
2353	FOS	HP:0005616	Accelerated skeletal maturation	HP:0040283	ORPHA:528
2353	FOS	HP:0011407	Proportionate tall stature	HP:0040283	ORPHA:528
2353	FOS	HP:0009125	Lipodystrophy	HP:0040281	ORPHA:528
2353	FOS	HP:0003124	Hypercholesterolemia	HP:0040283	ORPHA:528
2353	FOS	HP:0030796	Increased C-peptide level	HP:0040283	ORPHA:528
2353	FOS	HP:0000876	Oligomenorrhea	HP:0040284	ORPHA:528
2353	FOS	HP:0000855	Insulin resistance	HP:0040281	ORPHA:528
2353	FOS	HP:0000842	Hyperinsulinemia	HP:0040283	ORPHA:528
2353	FOS	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:528
2353	FOS	HP:0003247	Overgrowth of external genitalia	HP:0040283	ORPHA:528
2353	FOS	HP:0000998	Hypertrichosis	HP:0040282	ORPHA:528
2353	FOS	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:528
2353	FOS	HP:0000294	Low anterior hairline	HP:0040283	ORPHA:528
2353	FOS	HP:0001508	Failure to thrive	HP:0040283	ORPHA:528
2353	FOS	HP:0000336	Prominent supraorbital ridges	HP:0040283	ORPHA:528
2353	FOS	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:528
2353	FOS	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:528
2353	FOS	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:528
2353	FOS	HP:0001833	Long foot	HP:0040283	ORPHA:528
2355	FOSL2	HP:0001250	Seizure	2/8	OMIM:620789
2355	FOSL2	HP:0001263	Global developmental delay	7/9	OMIM:620789
2355	FOSL2	HP:0007385	Aplasia cutis congenita of scalp	10/11	OMIM:620789
2355	FOSL2	HP:0008897	Postnatal growth retardation	5/9	OMIM:620789
2355	FOSL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:620789
2355	FOSL2	HP:0001320	Cerebellar vermis hypoplasia	1/11	OMIM:620789
2355	FOSL2	HP:0006297	Enamel hypoplasia	9/9	OMIM:620789
2355	FOSL2	HP:0003593	Infantile onset	1/5	OMIM:620789
2355	FOSL2	HP:0003577	Congenital onset	3/5	OMIM:620789
2355	FOSL2	HP:0200012	Short corpus callosum	1/11	OMIM:620789
2355	FOSL2	HP:0000684	Delayed eruption of teeth	1/11	OMIM:620789
2355	FOSL2	HP:0000668	Hypodontia	1/11	OMIM:620789
2355	FOSL2	HP:0000729	Autistic behavior	6/9	OMIM:620789
2355	FOSL2	HP:0011463	Childhood onset	1/5	OMIM:620789
2355	FOSL2	HP:0000998	Hypertrichosis	1/11	OMIM:620789
2355	FOSL2	HP:0000958	Dry skin	3/11	OMIM:620789
2355	FOSL2	HP:0000965	Cutis marmorata	1/11	OMIM:620789
2355	FOSL2	HP:0008070	Sparse hair	1/11	OMIM:620789
2355	FOSL2	HP:0001511	Intrauterine growth retardation	6/9	OMIM:620789
2355	FOSL2	HP:0006480	Premature loss of teeth	1/11	OMIM:620789
2355	FOSL2	HP:0001792	Small nail	1/11	OMIM:620789
2355	FOSL2	HP:0000518	Cataract	5/10	OMIM:620789
2355	FOSL2	HP:0001808	Fragile nails	1/11	OMIM:620789
2395	FXN	HP:0002495	Impaired vibratory sensation	-	OMIM:229300
2395	FXN	HP:0002495	Impaired vibratory sensation	-	OMIM:601992
2395	FXN	HP:0002495	Impaired vibratory sensation	HP:0040282	ORPHA:95
2395	FXN	HP:0001123	Visual field defect	-	OMIM:229300
2395	FXN	HP:0010873	Cervical spinal cord atrophy	HP:0040282	ORPHA:95
2395	FXN	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:95
2395	FXN	HP:0001251	Ataxia	-	OMIM:229300
2395	FXN	HP:0001251	Ataxia	-	OMIM:601992
2395	FXN	HP:0001260	Dysarthria	-	OMIM:229300
2395	FXN	HP:0001260	Dysarthria	-	OMIM:601992
2395	FXN	HP:0001260	Dysarthria	HP:0040281	ORPHA:95
2395	FXN	HP:0001257	Spasticity	HP:0040283	ORPHA:95
2395	FXN	HP:0002540	Inability to walk	HP:0040283	ORPHA:95
2395	FXN	HP:0002546	Incomprehensible speech	HP:0040283	ORPHA:95
2395	FXN	HP:0002527	Falls	HP:0040282	ORPHA:95
2395	FXN	HP:0002522	Areflexia of lower limbs	-	OMIM:229300
2395	FXN	HP:0002522	Areflexia of lower limbs	HP:0040282	ORPHA:95
2395	FXN	HP:0012079	Abnormality of central motor conduction	HP:0040282	ORPHA:95
2395	FXN	HP:0001332	Dystonia	HP:0040283	ORPHA:95
2395	FXN	HP:0001324	Muscle weakness	HP:0040282	ORPHA:95
2395	FXN	HP:0000012	Urinary urgency	HP:0040282	ORPHA:95
2395	FXN	HP:0000007	Autosomal recessive inheritance	-	OMIM:601992
2395	FXN	HP:0000007	Autosomal recessive inheritance	-	OMIM:229300
2395	FXN	HP:0001310	Dysmetria	HP:0040282	ORPHA:95
2395	FXN	HP:0002650	Scoliosis	-	OMIM:229300
2395	FXN	HP:0002650	Scoliosis	HP:0040282	ORPHA:95
2395	FXN	HP:0002650	Scoliosis	-	OMIM:601992
2395	FXN	HP:0001315	Reduced tendon reflexes	-	OMIM:601992
2395	FXN	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:95
2395	FXN	HP:0007663	Reduced visual acuity	HP:0040283	OMIM:229300
2395	FXN	HP:0025402	Square-wave jerks	HP:0040283	ORPHA:95
2395	FXN	HP:0002037	Inflammation of the large intestine	HP:0040282	ORPHA:95
2395	FXN	HP:0002015	Dysphagia	HP:0040283	ORPHA:95
2395	FXN	HP:0002080	Intention tremor	HP:0040282	ORPHA:95
2395	FXN	HP:0002066	Gait ataxia	HP:0040280	ORPHA:95
2395	FXN	HP:0002066	Gait ataxia	-	OMIM:229300
2395	FXN	HP:0003394	Muscle spasm	HP:0040282	ORPHA:95
2395	FXN	HP:0002062	Abnormal pyramidal tract morphology	-	OMIM:601992
2395	FXN	HP:0003390	Sensory axonal neuropathy	HP:0040282	ORPHA:95
2395	FXN	HP:0002075	Dysdiadochokinesis	HP:0040283	ORPHA:95
2395	FXN	HP:0002072	Chorea	HP:0040284	ORPHA:95
2395	FXN	HP:0002070	Limb ataxia	HP:0040281	ORPHA:95
2395	FXN	HP:0002070	Limb ataxia	-	OMIM:229300
2395	FXN	HP:0002141	Gait imbalance	HP:0040281	ORPHA:95
2395	FXN	HP:0003487	Babinski sign	-	OMIM:229300
2395	FXN	HP:0003487	Babinski sign	-	OMIM:601992
2395	FXN	HP:0003487	Babinski sign	HP:0040281	ORPHA:95
2395	FXN	HP:0003448	Decreased sensory nerve conduction velocity	-	OMIM:229300
2395	FXN	HP:0003431	Decreased motor nerve conduction velocity	HP:0040283	ORPHA:95
2395	FXN	HP:0010535	Sleep apnea	HP:0040283	ORPHA:95
2395	FXN	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:95
2395	FXN	HP:0007010	Poor fine motor coordination	HP:0040282	ORPHA:95
2395	FXN	HP:0007078	Decreased amplitude of sensory action potentials	-	OMIM:229300
2395	FXN	HP:0001063	Acrocyanosis	HP:0040282	ORPHA:95
2395	FXN	HP:0010831	Impaired proprioception	-	OMIM:229300
2395	FXN	HP:0010831	Impaired proprioception	HP:0040281	ORPHA:95
2395	FXN	HP:0002311	Incoordination	-	OMIM:601992
2395	FXN	HP:0002312	Clumsiness	HP:0040282	ORPHA:95
2395	FXN	HP:0003621	Juvenile onset	-	OMIM:229300
2395	FXN	HP:0003621	Juvenile onset	-	OMIM:601992
2395	FXN	HP:0011397	Abnormality of the dorsal column of the spinal cord	-	OMIM:601992
2395	FXN	HP:0000639	Nystagmus	-	OMIM:229300
2395	FXN	HP:0000639	Nystagmus	HP:0040282	ORPHA:95
2395	FXN	HP:0000639	Nystagmus	-	OMIM:601992
2395	FXN	HP:0000649	Abnormality of visual evoked potentials	-	OMIM:229300
2395	FXN	HP:0000648	Optic atrophy	-	OMIM:229300
2395	FXN	HP:0000648	Optic atrophy	HP:0040282	ORPHA:95
2395	FXN	HP:0001953	Diabetic ketoacidosis	-	OMIM:601992
2395	FXN	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:95
2395	FXN	HP:0000763	Sensory neuropathy	-	OMIM:229300
2395	FXN	HP:0000739	Anxiety	HP:0040283	ORPHA:95
2395	FXN	HP:0000716	Depression	HP:0040283	ORPHA:95
2395	FXN	HP:0009130	Hand muscle atrophy	HP:0040281	ORPHA:95
2395	FXN	HP:0011441	Abnormal medulla oblongata morphology	-	OMIM:601992
2395	FXN	HP:0003115	Abnormal EKG	-	OMIM:229300
2395	FXN	HP:0003115	Abnormal EKG	-	OMIM:601992
2395	FXN	HP:0003115	Abnormal EKG	HP:0040282	ORPHA:95
2395	FXN	HP:0003134	Abnormality of peripheral nerve conduction	-	OMIM:601992
2395	FXN	HP:0003133	Abnormality of the spinocerebellar tracts	-	OMIM:601992
2395	FXN	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:95
2395	FXN	HP:0000819	Diabetes mellitus	-	OMIM:229300
2395	FXN	HP:0003232	Mitochondrial malic enzyme reduced	-	OMIM:601992
2395	FXN	HP:0003232	Mitochondrial malic enzyme reduced	-	OMIM:229300
2395	FXN	HP:0003209	Decreased pyruvate carboxylase activity	-	OMIM:601992
2395	FXN	HP:0003209	Decreased pyruvate carboxylase activity	-	OMIM:229300
2395	FXN	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040282	ORPHA:95
2395	FXN	HP:0030183	Impaired visually enhanced vestibulo-ocular reflex	HP:0040282	ORPHA:95
2395	FXN	HP:0001618	Dysphonia	HP:0040283	ORPHA:95
2395	FXN	HP:0005157	Concentric hypertrophic cardiomyopathy	-	OMIM:601992
2395	FXN	HP:0000365	Hearing impairment	HP:0040283	ORPHA:95
2395	FXN	HP:0001691	Muscular subvalvular aortic stenosis	-	OMIM:601992
2395	FXN	HP:0001626	Abnormality of the cardiovascular system	-	OMIM:229300
2395	FXN	HP:0001626	Abnormality of the cardiovascular system	-	OMIM:601992
2395	FXN	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:229300
2395	FXN	HP:0001635	Congestive heart failure	-	OMIM:229300
2395	FXN	HP:0001635	Congestive heart failure	-	OMIM:601992
2395	FXN	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:95
2395	FXN	HP:0012452	Restless legs	HP:0040282	ORPHA:95
2395	FXN	HP:0001765	Hammertoe	-	OMIM:601992
2395	FXN	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:95
2395	FXN	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:95
2395	FXN	HP:0001761	Pes cavus	-	OMIM:229300
2395	FXN	HP:0001761	Pes cavus	-	OMIM:601992
2395	FXN	HP:0001761	Pes cavus	HP:0040282	ORPHA:95
2395	FXN	HP:0000505	Visual impairment	HP:0040283	OMIM:229300
2395	FXN	HP:0000570	Abnormal saccadic eye movements	HP:0040282	ORPHA:95
2464	FRA16E	HP:0001250	Seizure	8/22	OMIM:136570
2464	FRA16E	HP:0001252	Hypotonia	10/21	OMIM:136570
2464	FRA16E	HP:0001263	Global developmental delay	42/42	OMIM:136570
2464	FRA16E	HP:0001999	Abnormal facial shape	HP:0040281	OMIM:136570
2464	FRA16E	HP:0004383	Hypoplastic left heart	4/21	OMIM:136570
2464	FRA16E	HP:0000750	Delayed speech and language development	15/15	OMIM:136570
2464	FRA16E	HP:0000708	Atypical behavior	9/16	OMIM:136570
2464	FRA16E	HP:0000252	Microcephaly	7/20	OMIM:136570
2464	FRA16E	HP:0001510	Growth delay	9/22	OMIM:136570
2475	MTOR	HP:0025104	Capillary malformation	HP:0040283	ORPHA:457485
2475	MTOR	HP:0002446	Astrocytosis	-	OMIM:607341
2475	MTOR	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:99802
2475	MTOR	HP:0009882	Short distal phalanx of finger	-	OMIM:616638
2475	MTOR	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:99802
2475	MTOR	HP:0003745	Sporadic	-	OMIM:607341
2475	MTOR	HP:0001290	Generalized hypotonia	-	OMIM:616638
2475	MTOR	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:457485
2475	MTOR	HP:0001269	Hemiparesis	HP:0040283	ORPHA:99802
2475	MTOR	HP:0001269	Hemiparesis	-	OMIM:607341
2475	MTOR	HP:0001288	Gait disturbance	HP:0040283	ORPHA:457485
2475	MTOR	HP:0001250	Seizure	HP:0040281	ORPHA:99802
2475	MTOR	HP:0001250	Seizure	HP:0040282	ORPHA:457485
2475	MTOR	HP:0001250	Seizure	3/4	OMIM:616638
2475	MTOR	HP:0001252	Hypotonia	HP:0040283	ORPHA:457485
2475	MTOR	HP:0001249	Intellectual disability	HP:0040281	ORPHA:457485
2475	MTOR	HP:0001249	Intellectual disability	-	OMIM:607341
2475	MTOR	HP:0001249	Intellectual disability	4/4	OMIM:616638
2475	MTOR	HP:0001263	Global developmental delay	HP:0040282	ORPHA:99802
2475	MTOR	HP:0001263	Global developmental delay	HP:0040282	ORPHA:457485
2475	MTOR	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:457485
2475	MTOR	HP:0002539	Cortical dysplasia	-	OMIM:607341
2475	MTOR	HP:0025373	Interictal EEG abnormality	HP:0040281	ORPHA:99802
2475	MTOR	HP:0000047	Hypospadias	HP:0040284	ORPHA:457485
2475	MTOR	HP:0001355	Megalencephaly	HP:0040281	ORPHA:457485
2475	MTOR	HP:0001355	Megalencephaly	1/4	OMIM:616638
2475	MTOR	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:457485
2475	MTOR	HP:0000028	Cryptorchidism	-	OMIM:616638
2475	MTOR	HP:0006191	Deep palmar crease	3/3	OMIM:616638
2475	MTOR	HP:0001328	Specific learning disability	HP:0040282	ORPHA:457485
2475	MTOR	HP:0000006	Autosomal dominant inheritance	-	OMIM:616638
2475	MTOR	HP:0001336	Myoclonus	HP:0040283	ORPHA:99802
2475	MTOR	HP:0001302	Pachygyria	HP:0040283	ORPHA:99802
2475	MTOR	HP:0008905	Rhizomelia	-	OMIM:616638
2475	MTOR	HP:0000194	Open mouth	HP:0040283	ORPHA:457485
2475	MTOR	HP:0000194	Open mouth	4/4	OMIM:616638
2475	MTOR	HP:0000154	Wide mouth	HP:0040283	ORPHA:457485
2475	MTOR	HP:0000154	Wide mouth	4/4	OMIM:616638
2475	MTOR	HP:0001442	Typified by somatic mosaicism	-	OMIM:607341
2475	MTOR	HP:0002720	Decreased circulating IgA concentration	HP:0040284	ORPHA:457485
2475	MTOR	HP:0002720	Decreased circulating IgA concentration	11/11	OMIM:616638
2475	MTOR	HP:0002007	Frontal bossing	HP:0040282	ORPHA:457485
2475	MTOR	HP:0002007	Frontal bossing	-	OMIM:616638
2475	MTOR	HP:0011800	Midface retrusion	-	OMIM:616638
2475	MTOR	HP:0100543	Cognitive impairment	-	OMIM:607341
2475	MTOR	HP:0002099	Asthma	HP:0040283	ORPHA:457485
2475	MTOR	HP:0002079	Hypoplasia of the corpus callosum	2/3	OMIM:616638
2475	MTOR	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:457485
2475	MTOR	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:99802
2475	MTOR	HP:0002119	Ventriculomegaly	3/3	OMIM:616638
2475	MTOR	HP:0002133	Status epilepticus	HP:0040283	ORPHA:99802
2475	MTOR	HP:0004789	Lactose intolerance	HP:0040283	ORPHA:457485
2475	MTOR	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:99802
2475	MTOR	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:457485
2475	MTOR	HP:0002197	Generalized-onset seizure	HP:0040282	ORPHA:457485
2475	MTOR	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:457485
2475	MTOR	HP:0002171	Gliosis	HP:0040283	ORPHA:99802
2475	MTOR	HP:0003593	Infantile onset	-	OMIM:607341
2475	MTOR	HP:0003593	Infantile onset	3/3	OMIM:616638
2475	MTOR	HP:0003581	Adult onset	-	OMIM:607341
2475	MTOR	HP:0002212	Curly hair	HP:0040282	ORPHA:457485
2475	MTOR	HP:0002212	Curly hair	-	OMIM:616638
2475	MTOR	HP:0002282	Gray matter heterotopia	HP:0040283	ORPHA:99802
2475	MTOR	HP:0007042	Focal white matter lesions	-	OMIM:607341
2475	MTOR	HP:0011968	Feeding difficulties	-	OMIM:616638
2475	MTOR	HP:0032046	Focal cortical dysplasia	HP:0040282	ORPHA:99802
2475	MTOR	HP:0032051	Focal cortical dysplasia type II	-	OMIM:607341
2475	MTOR	HP:0002384	Focal impaired awareness seizure	-	OMIM:607341
2475	MTOR	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:457485
2475	MTOR	HP:0002392	EEG with polyspike wave complexes	HP:0040282	ORPHA:99802
2475	MTOR	HP:0001028	Hemangioma	HP:0040283	ORPHA:457485
2475	MTOR	HP:0007206	Hemimegalencephaly	-	OMIM:616638
2475	MTOR	HP:0007206	Hemimegalencephaly	HP:0040282	ORPHA:99802
2475	MTOR	HP:0007206	Hemimegalencephaly	-	OMIM:607341
2475	MTOR	HP:0010819	Atonic seizure	HP:0040283	ORPHA:99802
2475	MTOR	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:99802
2475	MTOR	HP:0000648	Optic atrophy	HP:0040283	ORPHA:99802
2475	MTOR	HP:0001943	Hypoglycemia	-	OMIM:616638
2475	MTOR	HP:0012650	Perisylvian polymicrogyria	-	OMIM:616638
2475	MTOR	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:457485
2475	MTOR	HP:0001998	Neonatal hypoglycemia	HP:0040284	ORPHA:457485
2475	MTOR	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:99802
2475	MTOR	HP:0000752	Hyperactivity	HP:0040283	ORPHA:457485
2475	MTOR	HP:0000729	Autistic behavior	HP:0040283	ORPHA:457485
2475	MTOR	HP:0012757	Abnormal neuron morphology	HP:0040283	ORPHA:99802
2475	MTOR	HP:0003196	Short nose	4/4	OMIM:616638
2475	MTOR	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:99802
2475	MTOR	HP:0034295	Reduced cerebral white matter volume	1/3	OMIM:616638
2475	MTOR	HP:0010241	Short proximal phalanx of finger	-	OMIM:616638
2475	MTOR	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040281	ORPHA:99802
2475	MTOR	HP:0000957	Cafe-au-lait spot	HP:0040283	ORPHA:457485
2475	MTOR	HP:0000957	Cafe-au-lait spot	3/4	OMIM:616638
2475	MTOR	HP:0000260	Wide anterior fontanel	-	OMIM:616638
2475	MTOR	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:99802
2475	MTOR	HP:0000256	Macrocephaly	HP:0040281	ORPHA:457485
2475	MTOR	HP:0000256	Macrocephaly	HP:0040283	ORPHA:99802
2475	MTOR	HP:0000256	Macrocephaly	4/4	OMIM:616638
2475	MTOR	HP:0000267	Cranial asymmetry	HP:0040282	ORPHA:99802
2475	MTOR	HP:0000219	Thin upper lip vermilion	-	OMIM:616638
2475	MTOR	HP:0001540	Diastasis recti	HP:0040283	ORPHA:457485
2475	MTOR	HP:0001540	Diastasis recti	4/4	OMIM:616638
2475	MTOR	HP:0001537	Umbilical hernia	4/4	OMIM:616638
2475	MTOR	HP:0001538	Protuberant abdomen	HP:0040283	ORPHA:457485
2475	MTOR	HP:0001520	Large for gestational age	HP:0040282	ORPHA:457485
2475	MTOR	HP:0001520	Large for gestational age	-	OMIM:616638
2475	MTOR	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:99802
2475	MTOR	HP:0012393	Allergy	HP:0040284	ORPHA:457485
2475	MTOR	HP:0012377	Hemianopia	HP:0040283	ORPHA:99802
2475	MTOR	HP:0005257	Thoracic hypoplasia	HP:0040283	ORPHA:457485
2475	MTOR	HP:0005257	Thoracic hypoplasia	4/4	OMIM:616638
2475	MTOR	HP:0005266	Intestinal polyp	HP:0040284	ORPHA:457485
2475	MTOR	HP:0000343	Long philtrum	HP:0040283	ORPHA:457485
2475	MTOR	HP:0000343	Long philtrum	4/4	OMIM:616638
2475	MTOR	HP:0000348	High forehead	4/4	OMIM:616638
2475	MTOR	HP:0000319	Smooth philtrum	-	OMIM:616638
2475	MTOR	HP:0000316	Hypertelorism	HP:0040283	ORPHA:457485
2475	MTOR	HP:0000316	Hypertelorism	4/4	OMIM:616638
2475	MTOR	HP:0000331	Short chin	HP:0040284	ORPHA:457485
2475	MTOR	HP:0000331	Short chin	-	OMIM:616638
2475	MTOR	HP:0011195	EEG with focal sharp slow waves	HP:0040282	ORPHA:99802
2475	MTOR	HP:0011193	EEG with focal spikes	HP:0040282	ORPHA:99802
2475	MTOR	HP:0011167	Focal tonic seizure	HP:0040283	ORPHA:99802
2475	MTOR	HP:0011153	Focal motor seizure	HP:0040282	ORPHA:99802
2475	MTOR	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:457485
2475	MTOR	HP:0005280	Depressed nasal bridge	4/4	OMIM:616638
2475	MTOR	HP:0000486	Strabismus	HP:0040283	ORPHA:457485
2475	MTOR	HP:0000486	Strabismus	-	OMIM:616638
2475	MTOR	HP:0000494	Downslanted palpebral fissures	HP:0040284	ORPHA:457485
2475	MTOR	HP:0000494	Downslanted palpebral fissures	4/4	OMIM:616638
2475	MTOR	HP:0001763	Pes planus	HP:0040283	ORPHA:457485
2475	MTOR	HP:0011215	Hemihypsarrhythmia	HP:0040282	ORPHA:99802
2475	MTOR	HP:0011220	Prominent forehead	HP:0040283	ORPHA:457485
2475	MTOR	HP:0001869	Deep plantar creases	3/3	OMIM:616638
2475	MTOR	HP:0001873	Thrombocytopenia	-	OMIM:616638
2483	FRG1	HP:0003724	Shoulder girdle muscle atrophy	-	OMIM:158900
2483	FRG1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:269
2483	FRG1	HP:0001250	Seizure	-	OMIM:158900
2483	FRG1	HP:0001250	Seizure	HP:0040283	ORPHA:269
2483	FRG1	HP:0001249	Intellectual disability	-	OMIM:158900
2483	FRG1	HP:0012037	Pectoralis amyotrophy	HP:0040282	ORPHA:269
2483	FRG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:158900
2483	FRG1	HP:0002650	Scoliosis	HP:0040282	ORPHA:269
2483	FRG1	HP:6000864	Transverse smile	-	OMIM:158900
2483	FRG1	HP:0008981	Calf muscle hypertrophy	-	OMIM:158900
2483	FRG1	HP:0008970	Scapulohumeral muscular dystrophy	-	OMIM:158900
2483	FRG1	HP:0008959	Distal upper limb muscle weakness	HP:0040282	ORPHA:269
2483	FRG1	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:269
2483	FRG1	HP:0002015	Dysphagia	HP:0040283	OMIM:158900
2483	FRG1	HP:0004673	Decreased facial expression	HP:0040282	ORPHA:269
2483	FRG1	HP:0003307	Hyperlordosis	HP:0040281	ORPHA:269
2483	FRG1	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:269
2483	FRG1	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:269
2483	FRG1	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:269
2483	FRG1	HP:0002091	Restrictive ventilatory defect	-	OMIM:158900
2483	FRG1	HP:0003376	Steppage gait	HP:0040282	ORPHA:269
2483	FRG1	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:269
2483	FRG1	HP:0100595	Camptocormia	HP:0040282	ORPHA:269
2483	FRG1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:269
2483	FRG1	HP:0003547	Shoulder girdle muscle weakness	-	OMIM:158900
2483	FRG1	HP:0010628	Facial palsy	-	OMIM:158900
2483	FRG1	HP:0003691	Scapular winging	HP:0040281	ORPHA:269
2483	FRG1	HP:0003691	Scapular winging	-	OMIM:158900
2483	FRG1	HP:0002359	Frequent falls	HP:0040282	ORPHA:269
2483	FRG1	HP:0003677	Slowly progressive	-	OMIM:158900
2483	FRG1	HP:6001010	Inability to protrude lips	-	OMIM:158900
2483	FRG1	HP:0009023	Abdominal wall muscle weakness	-	OMIM:158900
2483	FRG1	HP:0009023	Abdominal wall muscle weakness	HP:0040282	ORPHA:269
2483	FRG1	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:269
2483	FRG1	HP:0030664	Beevor's sign	-	OMIM:158900
2483	FRG1	HP:0030664	Beevor's sign	HP:0040282	ORPHA:269
2483	FRG1	HP:6001102	Inability to puff cheeks	-	OMIM:158900
2483	FRG1	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:269
2483	FRG1	HP:0011463	Childhood onset	-	OMIM:158900
2483	FRG1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:269
2483	FRG1	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:158900
2483	FRG1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:269
2483	FRG1	HP:0003202	Skeletal muscle atrophy	-	OMIM:158900
2483	FRG1	HP:0008046	Abnormal retinal vascular morphology	HP:0040282	ORPHA:269
2483	FRG1	HP:0000298	Mask-like facies	HP:0040281	ORPHA:269
2483	FRG1	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:269
2483	FRG1	HP:0007763	Retinal telangiectasia	-	OMIM:158900
2483	FRG1	HP:0012231	Exudative retinal detachment	-	OMIM:158900
2483	FRG1	HP:0030002	Nocturnal lagophthalmos	HP:0040282	ORPHA:269
2483	FRG1	HP:0001538	Protuberant abdomen	HP:0040282	ORPHA:269
2483	FRG1	HP:0006587	Straight clavicles	HP:0040282	ORPHA:269
2483	FRG1	HP:0007898	Exudative retinopathy	HP:0040283	ORPHA:269
2483	FRG1	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:269
2483	FRG1	HP:0000407	Sensorineural hearing impairment	-	OMIM:158900
2483	FRG1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:269
2483	FRG1	HP:0012473	Tongue atrophy	-	OMIM:158900
2483	FRG1	HP:0000491	Keratitis	HP:0040282	ORPHA:269
2483	FRG1	HP:0000509	Conjunctivitis	HP:0040282	ORPHA:269
2483	FRG1	HP:0000572	Visual loss	HP:0040283	ORPHA:269
2483	FRG1	HP:0012532	Chronic pain	HP:0040282	ORPHA:269
2483	FRG1	HP:0000541	Retinal detachment	HP:0040283	ORPHA:269
2483	FRG1	HP:0000544	External ophthalmoplegia	-	OMIM:158900
2487	FRZB	HP:0008843	Hip osteoarthritis	-	OMIM:165720
2487	FRZB	HP:0001426	Non-Mendelian inheritance	-	OMIM:165720
2488	FSHB	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:52901
2488	FSHB	HP:0008734	Decreased testicular size	-	OMIM:229070
2488	FSHB	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:52901
2488	FSHB	HP:0000029	Testicular atrophy	HP:0040282	ORPHA:52901
2488	FSHB	HP:0000026	Male hypogonadism	HP:0040280	ORPHA:52901
2488	FSHB	HP:0000027	Azoospermia	HP:0040282	ORPHA:52901
2488	FSHB	HP:0000027	Azoospermia	-	OMIM:229070
2488	FSHB	HP:0000007	Autosomal recessive inheritance	-	OMIM:229070
2488	FSHB	HP:0000135	Hypogonadism	-	OMIM:229070
2488	FSHB	HP:0000134	Female hypogonadism	HP:0040280	ORPHA:52901
2488	FSHB	HP:0002750	Delayed skeletal maturation	-	OMIM:229070
2488	FSHB	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:52901
2488	FSHB	HP:0008213	Gonadotropin deficiency	HP:0040280	ORPHA:52901
2488	FSHB	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:52901
2488	FSHB	HP:0002215	Sparse axillary hair	HP:0040281	ORPHA:52901
2488	FSHB	HP:0002225	Sparse pubic hair	HP:0040281	ORPHA:52901
2488	FSHB	HP:0011969	Elevated circulating luteinizing hormone level	2/2	OMIM:229070
2488	FSHB	HP:0010791	Hyperplasia of the Leydig cells	HP:0040282	ORPHA:52901
2488	FSHB	HP:0011462	Young adult onset	1/1	OMIM:229070
2488	FSHB	HP:0000798	Oligozoospermia	HP:0040282	ORPHA:52901
2488	FSHB	HP:0000789	Infertility	1/1	OMIM:229070
2488	FSHB	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:52901
2488	FSHB	HP:0000786	Primary amenorrhea	2/2	OMIM:229070
2488	FSHB	HP:0004408	Abnormality of the sense of smell	0/1	OMIM:229070
2488	FSHB	HP:0003199	Decreased muscle mass	HP:0040283	OMIM:229070
2488	FSHB	HP:0012864	Abnormal sperm morphology	HP:0040282	ORPHA:52901
2488	FSHB	HP:0000876	Oligomenorrhea	HP:0040282	ORPHA:52901
2488	FSHB	HP:0012814	Bilateral breast hypoplasia	HP:0040282	ORPHA:52901
2488	FSHB	HP:0000823	Delayed puberty	HP:0040281	ORPHA:52901
2488	FSHB	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:52901
2488	FSHB	HP:0030018	Decreased female libido	HP:0040282	ORPHA:52901
2488	FSHB	HP:0000458	Anosmia	-	ORPHA:52901
2488	FSHB	HP:0030341	Decreased circulating follicle stimulating hormone concentration	2/2	OMIM:229070
2488	FSHB	HP:0012569	Delayed menarche	HP:0040281	ORPHA:52901
2492	FSHR	HP:0001166	Arachnodactyly	HP:0040284	ORPHA:243
2492	FSHR	HP:0009888	Abnormality of secondary sexual hair	HP:0040281	ORPHA:243
2492	FSHR	HP:0001251	Ataxia	HP:0040284	ORPHA:243
2492	FSHR	HP:0007430	Generalized edema	HP:0040283	ORPHA:64739
2492	FSHR	HP:0008684	Aplasia/hypoplasia of the uterus	HP:0040282	ORPHA:243
2492	FSHR	HP:0008675	Enlarged polycystic ovaries	HP:0040281	ORPHA:64739
2492	FSHR	HP:0000062	Ambiguous genitalia	-	ORPHA:243
2492	FSHR	HP:0000007	Autosomal recessive inheritance	-	OMIM:233300
2492	FSHR	HP:0000006	Autosomal dominant inheritance	-	OMIM:608115
2492	FSHR	HP:0000144	Decreased fertility	HP:0040281	ORPHA:243
2492	FSHR	HP:0000138	Ovarian cyst	HP:0040282	ORPHA:64739
2492	FSHR	HP:0000119	Abnormality of the genitourinary system	-	OMIM:608115
2492	FSHR	HP:0000133	Gonadal dysgenesis	HP:0040280	ORPHA:243
2492	FSHR	HP:0000133	Gonadal dysgenesis	-	OMIM:233300
2492	FSHR	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:243
2492	FSHR	HP:0002018	Nausea	-	OMIM:608115
2492	FSHR	HP:0002018	Nausea	HP:0040281	ORPHA:64739
2492	FSHR	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:64739
2492	FSHR	HP:0002027	Abdominal pain	-	OMIM:608115
2492	FSHR	HP:0002027	Abdominal pain	HP:0040281	ORPHA:64739
2492	FSHR	HP:0100598	Pulmonary edema	HP:0040283	ORPHA:64739
2492	FSHR	HP:0010464	Streak ovary	HP:0040282	ORPHA:243
2492	FSHR	HP:0008209	Premature ovarian insufficiency	HP:0040280	ORPHA:243
2492	FSHR	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:243
2492	FSHR	HP:0002225	Sparse pubic hair	HP:0040282	ORPHA:243
2492	FSHR	HP:0002202	Pleural effusion	HP:0040282	ORPHA:64739
2492	FSHR	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:243
2492	FSHR	HP:0001007	Hirsutism	HP:0040281	ORPHA:64739
2492	FSHR	HP:0003621	Juvenile onset	-	OMIM:233300
2492	FSHR	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040283	ORPHA:243
2492	FSHR	HP:0004322	Short stature	HP:0040283	ORPHA:243
2492	FSHR	HP:0005625	Osteoporosis of vertebrae	HP:0040282	ORPHA:243
2492	FSHR	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:243
2492	FSHR	HP:0000786	Primary amenorrhea	-	OMIM:233300
2492	FSHR	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:243
2492	FSHR	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:243
2492	FSHR	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:64739
2492	FSHR	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:243
2492	FSHR	HP:0000837	Increased circulating gonadotropin level	-	OMIM:233300
2492	FSHR	HP:0000823	Delayed puberty	HP:0040281	ORPHA:243
2492	FSHR	HP:0012886	Hemorrhagic ovarian cyst	HP:0040282	ORPHA:64739
2492	FSHR	HP:0003270	Abdominal distention	HP:0040281	ORPHA:64739
2492	FSHR	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:243
2492	FSHR	HP:0000939	Osteoporosis	-	OMIM:233300
2492	FSHR	HP:0000938	Osteopenia	HP:0040282	ORPHA:243
2492	FSHR	HP:0030088	Increased serum testosterone level	HP:0040281	ORPHA:64739
2492	FSHR	HP:0000252	Microcephaly	HP:0040284	ORPHA:243
2492	FSHR	HP:0030005	Capillary leak	HP:0040281	ORPHA:64739
2492	FSHR	HP:0001541	Ascites	-	OMIM:608115
2492	FSHR	HP:0001541	Ascites	HP:0040281	ORPHA:64739
2492	FSHR	HP:0012398	Peripheral edema	HP:0040283	ORPHA:64739
2492	FSHR	HP:0000365	Hearing impairment	HP:0040283	ORPHA:243
2492	FSHR	HP:0011106	Hypovolemia	HP:0040283	ORPHA:64739
2495	FTH1	HP:0002454	Eye of the tiger anomaly of globus pallidus	1/5	OMIM:620669
2495	FTH1	HP:0001272	Cerebellar atrophy	3/5	OMIM:620669
2495	FTH1	HP:0001268	Mental deterioration	2/3	OMIM:620669
2495	FTH1	HP:0001250	Seizure	3/5	OMIM:620669
2495	FTH1	HP:0001251	Ataxia	4/4	OMIM:620669
2495	FTH1	HP:0001260	Dysarthria	1/5	OMIM:620669
2495	FTH1	HP:0001263	Global developmental delay	5/5	OMIM:620669
2495	FTH1	HP:0001257	Spasticity	3/5	OMIM:620669
2495	FTH1	HP:0032385	Abnormal circulating transferrin concentration	0/4	OMIM:615517
2495	FTH1	HP:0025336	Delayed ability to sit	4/5	OMIM:620669
2495	FTH1	HP:0001347	Hyperreflexia	2/5	OMIM:620669
2495	FTH1	HP:0001332	Dystonia	2/5	OMIM:620669
2495	FTH1	HP:0033725	Thin corpus callosum	5/5	OMIM:620669
2495	FTH1	HP:0001344	Absent speech	1/5	OMIM:620669
2495	FTH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620669
2495	FTH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615517
2495	FTH1	HP:0001310	Dysmetria	1/5	OMIM:620669
2495	FTH1	HP:0001321	Cerebellar hypoplasia	4/5	OMIM:620669
2495	FTH1	HP:0008936	Axial hypotonia	1/5	OMIM:620669
2495	FTH1	HP:0002015	Dysphagia	4/5	OMIM:620669
2495	FTH1	HP:0033144	Abnormal circulating ceruloplasmin concentration	0/4	OMIM:615517
2495	FTH1	HP:0003452	Increased circulating iron concentration	1/1	OMIM:615517
2495	FTH1	HP:0002180	Neurodegeneration	5/5	OMIM:620669
2495	FTH1	HP:0002267	Exaggerated startle response	2/5	OMIM:620669
2495	FTH1	HP:0003593	Infantile onset	1/5	OMIM:620669
2495	FTH1	HP:0003577	Congenital onset	1/5	OMIM:620669
2495	FTH1	HP:0100704	Cerebral visual impairment	1/5	OMIM:620669
2495	FTH1	HP:0003581	Adult onset	4/4	OMIM:615517
2495	FTH1	HP:0011968	Feeding difficulties	2/5	OMIM:620669
2495	FTH1	HP:0010836	Abnormal circulating copper concentration	0/4	OMIM:615517
2495	FTH1	HP:0003623	Neonatal onset	1/5	OMIM:620669
2495	FTH1	HP:0002305	Athetosis	1/5	OMIM:620669
2495	FTH1	HP:0003621	Juvenile onset	1/5	OMIM:620669
2495	FTH1	HP:0001903	Anemia	0/4	OMIM:615517
2495	FTH1	HP:0012675	Iron accumulation in brain	4/4	OMIM:620669
2495	FTH1	HP:0031936	Delayed ability to walk	4/5	OMIM:620669
2495	FTH1	HP:0000750	Delayed speech and language development	4/4	OMIM:620669
2495	FTH1	HP:0011463	Childhood onset	1/5	OMIM:620669
2495	FTH1	HP:0040130	Abnormal circulating iron concentration	0/5	OMIM:620669
2495	FTH1	HP:0034295	Reduced cerebral white matter volume	5/5	OMIM:620669
2495	FTH1	HP:0003281	Increased circulating ferritin concentration	4/4	OMIM:615517
2495	FTH1	HP:0000252	Microcephaly	4/5	OMIM:620669
2495	FTH1	HP:0001508	Failure to thrive	5/5	OMIM:620669
2495	FTH1	HP:0012343	Decreased circulating ferritin concentration	3/5	OMIM:620669
2495	FTH1	HP:0012463	Elevated transferrin saturation	1/1	OMIM:615517
2495	FTH1	HP:0012464	Decreased transferrin saturation	3/5	OMIM:620669
2495	FTH1	HP:0012465	Elevated hepatic iron concentration	1/1	OMIM:615517
2495	FTH1	HP:0041056	Hot cross bun sign	1/5	OMIM:620669
2512	FTL	HP:0002454	Eye of the tiger anomaly of globus pallidus	HP:0040282	ORPHA:157846
2512	FTL	HP:0010923	Anterior subcapsular cataract	7/7	OMIM:600886
2512	FTL	HP:0002425	Anarthria	-	OMIM:606159
2512	FTL	HP:0001288	Gait disturbance	HP:0040282	ORPHA:157846
2512	FTL	HP:0001251	Ataxia	-	OMIM:606159
2512	FTL	HP:0001266	Choreoathetosis	-	OMIM:606159
2512	FTL	HP:0001260	Dysarthria	HP:0040282	ORPHA:157846
2512	FTL	HP:0001260	Dysarthria	25/38	OMIM:606159
2512	FTL	HP:0001257	Spasticity	-	OMIM:606159
2512	FTL	HP:0007350	Upper limb hyperreflexia	HP:0040283	ORPHA:157846
2512	FTL	HP:0012049	Laryngeal dystonia	-	OMIM:606159
2512	FTL	HP:0025331	Upgaze palsy	HP:0040284	ORPHA:157846
2512	FTL	HP:0001348	Brisk reflexes	HP:0040283	ORPHA:157846
2512	FTL	HP:0001347	Hyperreflexia	-	OMIM:606159
2512	FTL	HP:0001332	Dystonia	HP:0040281	ORPHA:157846
2512	FTL	HP:0001332	Dystonia	32/38	OMIM:606159
2512	FTL	HP:0000007	Autosomal recessive inheritance	-	OMIM:615604
2512	FTL	HP:0001337	Tremor	2/38	OMIM:606159
2512	FTL	HP:0000006	Autosomal dominant inheritance	-	OMIM:600886
2512	FTL	HP:0000006	Autosomal dominant inheritance	-	OMIM:606159
2512	FTL	HP:0000006	Autosomal dominant inheritance	-	OMIM:615604
2512	FTL	HP:0001300	Parkinsonism	-	OMIM:606159
2512	FTL	HP:0001300	Parkinsonism	HP:0040283	ORPHA:157846
2512	FTL	HP:0002015	Dysphagia	HP:0040282	ORPHA:157846
2512	FTL	HP:0002015	Dysphagia	15/38	OMIM:606159
2512	FTL	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:157846
2512	FTL	HP:0002067	Bradykinesia	13/38	OMIM:606159
2512	FTL	HP:0002067	Bradykinesia	HP:0040282	ORPHA:157846
2512	FTL	HP:0002063	Rigidity	-	OMIM:606159
2512	FTL	HP:0002072	Chorea	27/38	OMIM:606159
2512	FTL	HP:0002072	Chorea	HP:0040282	ORPHA:157846
2512	FTL	HP:0003487	Babinski sign	HP:0040284	ORPHA:157846
2512	FTL	HP:0003487	Babinski sign	-	OMIM:606159
2512	FTL	HP:0002134	Abnormal basal ganglia morphology	HP:0040281	ORPHA:157846
2512	FTL	HP:0002180	Neurodegeneration	-	OMIM:606159
2512	FTL	HP:0002197	Generalized-onset seizure	1/2	OMIM:615604
2512	FTL	HP:0010530	Palatal tremor	HP:0040283	ORPHA:157846
2512	FTL	HP:0003596	Middle age onset	-	OMIM:606159
2512	FTL	HP:0003581	Adult onset	8/8	OMIM:600886
2512	FTL	HP:0010693	Pulverulent cataract	HP:0040283	OMIM:600886
2512	FTL	HP:0007007	Cavitation of the basal ganglia	-	OMIM:606159
2512	FTL	HP:0002395	Lower limb hyperreflexia	HP:0040283	ORPHA:157846
2512	FTL	HP:0003676	Progressive	-	OMIM:606159
2512	FTL	HP:0002340	Caudate atrophy	HP:0040283	ORPHA:157846
2512	FTL	HP:0002339	Abnormal caudate nucleus morphology	HP:0040282	ORPHA:157846
2512	FTL	HP:0002356	Writer's cramp	-	OMIM:606159
2512	FTL	HP:0002356	Writer's cramp	HP:0040283	ORPHA:157846
2512	FTL	HP:0002322	Resting tremor	HP:0040284	ORPHA:157846
2512	FTL	HP:0100660	Dyskinesia	-	OMIM:606159
2512	FTL	HP:0007123	Subcortical dementia	-	OMIM:606159
2512	FTL	HP:0007123	Subcortical dementia	HP:0040284	ORPHA:157846
2512	FTL	HP:0002300	Mutism	-	OMIM:606159
2512	FTL	HP:0002310	Orofacial dyskinesia	HP:0040282	ORPHA:157846
2512	FTL	HP:0003621	Juvenile onset	1/1	OMIM:615604
2512	FTL	HP:0000643	Blepharospasm	-	OMIM:606159
2512	FTL	HP:0000643	Blepharospasm	HP:0040283	ORPHA:157846
2512	FTL	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:163
2512	FTL	HP:0012696	Abnormal thalamic MRI signal intensity	HP:0040282	ORPHA:157846
2512	FTL	HP:0012690	T2 hypointense thalamus	HP:0040282	ORPHA:157846
2512	FTL	HP:0012675	Iron accumulation in brain	HP:0040281	ORPHA:157846
2512	FTL	HP:0012678	Iron accumulation in substantia nigra	HP:0040282	ORPHA:157846
2512	FTL	HP:0031959	Leg dystonia	HP:0040282	ORPHA:157846
2512	FTL	HP:0031960	Arm dystonia	HP:0040283	ORPHA:157846
2512	FTL	HP:0004305	Involuntary movements	HP:0040282	ORPHA:157846
2512	FTL	HP:0031982	Abnormal putamen morphology	HP:0040282	ORPHA:157846
2512	FTL	HP:0031908	Micrographia	-	OMIM:606159
2512	FTL	HP:0004373	Focal dystonia	HP:0040282	ORPHA:157846
2512	FTL	HP:0100018	Nuclear cataract	-	OMIM:600886
2512	FTL	HP:0000734	Disinhibition	-	OMIM:606159
2512	FTL	HP:0000712	Emotional lability	-	OMIM:606159
2512	FTL	HP:0000712	Emotional lability	HP:0040282	ORPHA:157846
2512	FTL	HP:0000727	Frontal lobe dementia	HP:0040284	ORPHA:157846
2512	FTL	HP:0000726	Dementia	-	OMIM:606159
2512	FTL	HP:0000709	Psychosis	HP:0040284	ORPHA:157846
2512	FTL	HP:0040130	Abnormal circulating iron concentration	0/8	OMIM:600886
2512	FTL	HP:0040130	Abnormal circulating iron concentration	-	ORPHA:254704
2512	FTL	HP:0100321	Abnormal dentate nucleus morphology	HP:0040282	ORPHA:157846
2512	FTL	HP:0003281	Increased circulating ferritin concentration	15/15	OMIM:600886
2512	FTL	HP:0003281	Increased circulating ferritin concentration	HP:0040280	ORPHA:254704
2512	FTL	HP:0040135	Abnormal transferrin saturation	0/7	OMIM:600886
2512	FTL	HP:0040135	Abnormal transferrin saturation	-	ORPHA:254704
2512	FTL	HP:0001596	Alopecia	10/11	OMIM:615604
2512	FTL	HP:0007772	Impaired smooth pursuit	HP:0040283	ORPHA:157846
2512	FTL	HP:0002829	Arthralgia	HP:0040283	ORPHA:254704
2512	FTL	HP:0012378	Fatigue	HP:0040283	ORPHA:254704
2512	FTL	HP:0001618	Dysphonia	-	OMIM:606159
2512	FTL	HP:0001618	Dysphonia	HP:0040282	ORPHA:157846
2512	FTL	HP:0002922	Increased CSF protein concentration	HP:0040284	ORPHA:157846
2512	FTL	HP:0001686	Loss of voice	HP:0040283	ORPHA:157846
2512	FTL	HP:0012343	Decreased circulating ferritin concentration	2/2	OMIM:615604
2512	FTL	HP:0012343	Decreased circulating ferritin concentration	3/13	OMIM:606159
2512	FTL	HP:0012343	Decreased circulating ferritin concentration	HP:0040281	ORPHA:157846
2512	FTL	HP:0000338	Hypomimic face	13/38	OMIM:606159
2512	FTL	HP:0000338	Hypomimic face	HP:0040282	ORPHA:157846
2512	FTL	HP:0001621	Weak voice	HP:0040283	ORPHA:157846
2512	FTL	HP:0012464	Decreased transferrin saturation	1/7	OMIM:600886
2512	FTL	HP:0012465	Elevated hepatic iron concentration	-	ORPHA:254704
2512	FTL	HP:0012452	Restless legs	1/1	OMIM:615604
2512	FTL	HP:0000518	Cataract	HP:0040281	ORPHA:163
2512	FTL	HP:0000518	Cataract	HP:0040284	ORPHA:254704
2512	FTL	HP:0000518	Cataract	6/8	OMIM:600886
2512	FTL	HP:0001808	Fragile nails	HP:0040283	ORPHA:254704
2516	NR5A1	HP:0001166	Arachnodactyly	HP:0040284	ORPHA:243
2516	NR5A1	HP:0009888	Abnormality of secondary sexual hair	HP:0040281	ORPHA:243
2516	NR5A1	HP:0001251	Ataxia	HP:0040284	ORPHA:243
2516	NR5A1	HP:0002555	Absent pubic hair	2/9	OMIM:612964
2516	NR5A1	HP:0008726	Hypoplasia of the vagina	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0008730	Female external genitalia in individual with 46,XY karyotype	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:393
2516	NR5A1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
2516	NR5A1	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:2138
2516	NR5A1	HP:0008715	Testicular dysgenesis	HP:0040281	ORPHA:242
2516	NR5A1	HP:0008684	Aplasia/hypoplasia of the uterus	HP:0040282	ORPHA:243
2516	NR5A1	HP:0008665	Clitoral hypertrophy	2/9	OMIM:612964
2516	NR5A1	HP:0008665	Clitoral hypertrophy	1/4	OMIM:612965
2516	NR5A1	HP:0008665	Clitoral hypertrophy	1/6	OMIM:617480
2516	NR5A1	HP:0008665	Clitoral hypertrophy	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
2516	NR5A1	HP:0003829	Typified by incomplete penetrance	-	OMIM:617480
2516	NR5A1	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:393
2516	NR5A1	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:2138
2516	NR5A1	HP:0000062	Ambiguous genitalia	HP:0040283	OMIM:612965
2516	NR5A1	HP:0000062	Ambiguous genitalia	-	ORPHA:243
2516	NR5A1	HP:0000062	Ambiguous genitalia	2/6	OMIM:617480
2516	NR5A1	HP:0000058	Abnormal labia morphology	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:242
2516	NR5A1	HP:0000046	Small scrotum	HP:0040281	ORPHA:2138
2516	NR5A1	HP:0000045	Abnormal scrotum morphology	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0000037	Male pseudohermaphroditism	HP:0040281	ORPHA:242
2516	NR5A1	HP:0000054	Micropenis	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0000054	Micropenis	1/6	OMIM:617480
2516	NR5A1	HP:0000048	Bifid scrotum	HP:0040281	ORPHA:2138
2516	NR5A1	HP:0000047	Hypospadias	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0000047	Hypospadias	HP:0040281	ORPHA:2138
2516	NR5A1	HP:0000022	Abnormal male internal genitalia morphology	HP:0040281	ORPHA:2138
2516	NR5A1	HP:0000030	Testicular gonadoblastoma	HP:0040283	ORPHA:251510
2516	NR5A1	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:393
2516	NR5A1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:251510
2516	NR5A1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2138
2516	NR5A1	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
2516	NR5A1	HP:0000027	Azoospermia	-	OMIM:613957
2516	NR5A1	HP:0000027	Azoospermia	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0000013	Hypoplasia of the uterus	2/9	OMIM:612964
2516	NR5A1	HP:0000013	Hypoplasia of the uterus	HP:0040283	OMIM:612965
2516	NR5A1	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040281	ORPHA:2138
2516	NR5A1	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:251510
2516	NR5A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617480
2516	NR5A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613957
2516	NR5A1	HP:0025486	Fused labia majora	1/6	OMIM:617480
2516	NR5A1	HP:0000142	Abnormal vagina morphology	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0000144	Decreased fertility	HP:0040281	ORPHA:2138
2516	NR5A1	HP:0000144	Decreased fertility	HP:0040281	ORPHA:243
2516	NR5A1	HP:0001470	Sex-limited expression	-	OMIM:612964
2516	NR5A1	HP:0001470	Sex-limited expression	-	OMIM:612965
2516	NR5A1	HP:0000150	Gonadoblastoma	HP:0040282	ORPHA:251510
2516	NR5A1	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:393
2516	NR5A1	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:2138
2516	NR5A1	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:242
2516	NR5A1	HP:0000149	Ovarian gonadoblastoma	HP:0040283	ORPHA:251510
2516	NR5A1	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
2516	NR5A1	HP:0000133	Gonadal dysgenesis	-	OMIM:612964
2516	NR5A1	HP:0000133	Gonadal dysgenesis	-	OMIM:612965
2516	NR5A1	HP:0000133	Gonadal dysgenesis	HP:0040280	ORPHA:243
2516	NR5A1	HP:0000133	Gonadal dysgenesis	-	OMIM:617480
2516	NR5A1	HP:0000133	Gonadal dysgenesis	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0000130	Abnormality of the uterus	HP:0040281	ORPHA:2138
2516	NR5A1	HP:0000100	Nephrotic syndrome	HP:0040284	ORPHA:251510
2516	NR5A1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:243
2516	NR5A1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:251510
2516	NR5A1	HP:0030974	Cryptozoospermia	-	OMIM:613957
2516	NR5A1	HP:0030913	Exaggerated rugosity of the labia majora	1/4	OMIM:612965
2516	NR5A1	HP:0008193	Primary gonadal insufficiency	HP:0040283	ORPHA:251510
2516	NR5A1	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:251510
2516	NR5A1	HP:0010464	Streak ovary	HP:0040282	ORPHA:243
2516	NR5A1	HP:0010464	Streak ovary	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0010459	True hermaphroditism	HP:0040281	ORPHA:2138
2516	NR5A1	HP:0008232	Elevated circulating follicle stimulating hormone level	9/9	OMIM:612964
2516	NR5A1	HP:0008232	Elevated circulating follicle stimulating hormone level	3/3	OMIM:612965
2516	NR5A1	HP:0008232	Elevated circulating follicle stimulating hormone level	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0008209	Premature ovarian insufficiency	4/9	OMIM:612964
2516	NR5A1	HP:0008209	Premature ovarian insufficiency	HP:0040280	ORPHA:243
2516	NR5A1	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:243
2516	NR5A1	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0002215	Sparse axillary hair	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0002225	Sparse pubic hair	HP:0040282	ORPHA:243
2516	NR5A1	HP:0002225	Sparse pubic hair	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:243
2516	NR5A1	HP:0100779	Urogenital sinus anomaly	HP:0040281	ORPHA:2138
2516	NR5A1	HP:0100779	Urogenital sinus anomaly	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0011969	Elevated circulating luteinizing hormone level	9/9	OMIM:612964
2516	NR5A1	HP:0011969	Elevated circulating luteinizing hormone level	3/3	OMIM:612965
2516	NR5A1	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
2516	NR5A1	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
2516	NR5A1	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040283	ORPHA:243
2516	NR5A1	HP:0012646	Retractile testis	1/6	OMIM:617480
2516	NR5A1	HP:0004322	Short stature	HP:0040283	ORPHA:243
2516	NR5A1	HP:0005625	Osteoporosis of vertebrae	HP:0040282	ORPHA:243
2516	NR5A1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040284	ORPHA:251510
2516	NR5A1	HP:0000808	Penoscrotal hypospadias	1/6	OMIM:617480
2516	NR5A1	HP:0000808	Penoscrotal hypospadias	1/4	OMIM:612965
2516	NR5A1	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:243
2516	NR5A1	HP:0000771	Gynecomastia	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0000798	Oligozoospermia	-	OMIM:613957
2516	NR5A1	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0000786	Primary amenorrhea	4/9	OMIM:612964
2516	NR5A1	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:243
2516	NR5A1	HP:0012870	Vanishing testis	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0012856	Abnormal scrotal rugation	HP:0040281	ORPHA:2138
2516	NR5A1	HP:0012861	Ovotestis	2/4	OMIM:617480
2516	NR5A1	HP:0000869	Secondary amenorrhea	1/9	OMIM:612964
2516	NR5A1	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:243
2516	NR5A1	HP:0000868	Decreased fertility in females	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:243
2516	NR5A1	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
2516	NR5A1	HP:0000846	Adrenal insufficiency	HP:0040283	ORPHA:251510
2516	NR5A1	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0000812	Abnormal internal genitalia	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0000823	Delayed puberty	HP:0040282	ORPHA:251510
2516	NR5A1	HP:0000823	Delayed puberty	HP:0040281	ORPHA:243
2516	NR5A1	HP:0003251	Male infertility	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:243
2516	NR5A1	HP:0000939	Osteoporosis	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0000938	Osteopenia	HP:0040282	ORPHA:243
2516	NR5A1	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0012244	Abnormal sex determination	HP:0040281	ORPHA:251510
2516	NR5A1	HP:0012245	Sex reversal	2/4	OMIM:612965
2516	NR5A1	HP:0000252	Microcephaly	HP:0040284	ORPHA:243
2516	NR5A1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:243
2517	FUCA1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:349
2517	FUCA1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:349
2517	FUCA1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2517	FUCA1	HP:0003700	Generalized amyotrophy	1/1	OMIM:230000
2517	FUCA1	HP:0001293	Cranial nerve compression	-	OMIM:131300
2517	FUCA1	HP:0001271	Polyneuropathy	-	OMIM:230000
2517	FUCA1	HP:0001268	Mental deterioration	3/3	OMIM:230000
2517	FUCA1	HP:0001250	Seizure	HP:0040282	ORPHA:349
2517	FUCA1	HP:0001250	Seizure	-	OMIM:230000
2517	FUCA1	HP:0001252	Hypotonia	HP:0040282	ORPHA:349
2517	FUCA1	HP:0001252	Hypotonia	1/1	OMIM:230000
2517	FUCA1	HP:0001252	Hypotonia	2/7	OMIM:615777
2517	FUCA1	HP:0001249	Intellectual disability	1/1	OMIM:230000
2517	FUCA1	HP:0001249	Intellectual disability	5/7	OMIM:615777
2517	FUCA1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:349
2517	FUCA1	HP:0001263	Global developmental delay	4/4	OMIM:230000
2517	FUCA1	HP:0001263	Global developmental delay	-	OMIM:615777
2517	FUCA1	HP:0001257	Spasticity	HP:0040282	ORPHA:349
2517	FUCA1	HP:0002515	Waddling gait	54/102	OMIM:131300
2517	FUCA1	HP:0002510	Spastic tetraplegia	-	OMIM:230000
2517	FUCA1	HP:0002510	Spastic tetraplegia	HP:0040282	ORPHA:349
2517	FUCA1	HP:0012067	Glycopeptiduria	1/1	OMIM:230000
2517	FUCA1	HP:0001371	Flexion contracture	1/1	OMIM:230000
2517	FUCA1	HP:0001382	Joint hypermobility	-	OMIM:615777
2517	FUCA1	HP:0001348	Brisk reflexes	1/1	OMIM:230000
2517	FUCA1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2517	FUCA1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2517	FUCA1	HP:0001332	Dystonia	1/1	OMIM:230000
2517	FUCA1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2517	FUCA1	HP:0001324	Muscle weakness	40/96	OMIM:131300
2517	FUCA1	HP:0001324	Muscle weakness	1/1	OMIM:230000
2517	FUCA1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2517	FUCA1	HP:0002673	Coxa valga	-	OMIM:230000
2517	FUCA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:230000
2517	FUCA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2517	FUCA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2517	FUCA1	HP:0002650	Scoliosis	1/1	OMIM:230000
2517	FUCA1	HP:0002650	Scoliosis	12/14	OMIM:131300
2517	FUCA1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2517	FUCA1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2517	FUCA1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2517	FUCA1	HP:0000179	Thick lower lip vermilion	-	OMIM:230000
2517	FUCA1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2517	FUCA1	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:349
2517	FUCA1	HP:0000158	Macroglossia	-	OMIM:230000
2517	FUCA1	HP:0000175	Cleft palate	2/7	OMIM:615777
2517	FUCA1	HP:0002007	Frontal bossing	-	OMIM:230000
2517	FUCA1	HP:0004630	Anterior beaking of thoracic vertebrae	-	OMIM:230000
2517	FUCA1	HP:0003300	Ovoid vertebral bodies	1/1	OMIM:230000
2517	FUCA1	HP:0002064	Spastic gait	1/1	OMIM:230000
2517	FUCA1	HP:0002059	Cerebral atrophy	-	OMIM:230000
2517	FUCA1	HP:0003388	Easy fatigability	36/76	OMIM:131300
2517	FUCA1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2517	FUCA1	HP:0100578	Lipoatrophy	HP:0040281	ORPHA:349
2517	FUCA1	HP:0008155	Mucopolysacchariduria	HP:0040281	ORPHA:349
2517	FUCA1	HP:0010471	Oligosacchariduria	-	OMIM:230000
2517	FUCA1	HP:0003429	CNS hypomyelination	1/1	OMIM:230000
2517	FUCA1	HP:0002194	Delayed gross motor development	1/1	OMIM:230000
2517	FUCA1	HP:0003593	Infantile onset	5/5	OMIM:230000
2517	FUCA1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:349
2517	FUCA1	HP:0002240	Hepatomegaly	-	OMIM:230000
2517	FUCA1	HP:0002205	Recurrent respiratory infections	-	OMIM:230000
2517	FUCA1	HP:0010729	Cherry red spot of the macula	0/2	OMIM:230000
2517	FUCA1	HP:0100790	Hernia	-	OMIM:230000
2517	FUCA1	HP:0003510	Severe short stature	7/7	OMIM:615777
2517	FUCA1	HP:0001063	Acrocyanosis	HP:0040283	ORPHA:349
2517	FUCA1	HP:0002376	Developmental regression	1/1	OMIM:230000
2517	FUCA1	HP:0001014	Angiokeratoma	2/2	OMIM:230000
2517	FUCA1	HP:0002315	Headache	-	OMIM:131300
2517	FUCA1	HP:0004976	Knee dislocation	6/7	OMIM:615777
2517	FUCA1	HP:0009803	Short phalanx of finger	-	OMIM:615777
2517	FUCA1	HP:0008430	Anterior beaking of lumbar vertebrae	1/1	OMIM:230000
2517	FUCA1	HP:0008430	Anterior beaking of lumbar vertebrae	HP:0040281	ORPHA:349
2517	FUCA1	HP:0009763	Limb pain	63/92	OMIM:131300
2517	FUCA1	HP:0008436	Absent/hypoplastic coccyx	-	OMIM:230000
2517	FUCA1	HP:0002301	Hemiplegia	2/2	OMIM:230000
2517	FUCA1	HP:0034727	Reduced circulating alpha-L-fucosidase activity	11/11	OMIM:230000
2517	FUCA1	HP:0003621	Juvenile onset	-	OMIM:131300
2517	FUCA1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2517	FUCA1	HP:0005595	Generalized hyperkeratosis	HP:0040281	ORPHA:349
2517	FUCA1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2517	FUCA1	HP:6001056	Out-toeing	-	OMIM:131300
2517	FUCA1	HP:0000651	Diplopia	-	OMIM:131300
2517	FUCA1	HP:0001956	Truncal obesity	2/7	OMIM:615777
2517	FUCA1	HP:0001922	Vacuolated lymphocytes	-	OMIM:230000
2517	FUCA1	HP:0001903	Anemia	HP:0040283	OMIM:131300
2517	FUCA1	HP:0010049	Short metacarpal	-	OMIM:615777
2517	FUCA1	HP:0000678	Dental crowding	-	OMIM:615777
2517	FUCA1	HP:0000670	Carious teeth	-	OMIM:131300
2517	FUCA1	HP:0011304	Broad thumb	2/7	OMIM:615777
2517	FUCA1	HP:0000668	Hypodontia	-	OMIM:615777
2517	FUCA1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:349
2517	FUCA1	HP:0000664	Synophrys	-	OMIM:615777
2517	FUCA1	HP:0004322	Short stature	2/2	OMIM:230000
2517	FUCA1	HP:0004396	Poor appetite	-	OMIM:131300
2517	FUCA1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2517	FUCA1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2517	FUCA1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2517	FUCA1	HP:0003026	Short long bone	7/7	OMIM:615777
2517	FUCA1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2517	FUCA1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2517	FUCA1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2517	FUCA1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2517	FUCA1	HP:0000750	Delayed speech and language development	-	OMIM:615777
2517	FUCA1	HP:0011461	Fetal onset	7/7	OMIM:615777
2517	FUCA1	HP:0000774	Narrow chest	2/7	OMIM:615777
2517	FUCA1	HP:0003199	Decreased muscle mass	HP:0040282	ORPHA:349
2517	FUCA1	HP:0000914	Shield chest	-	OMIM:230000
2517	FUCA1	HP:0000926	Platyspondyly	1/7	OMIM:615777
2517	FUCA1	HP:0003180	Flat acetabular roof	-	OMIM:615777
2517	FUCA1	HP:0004482	Relative macrocephaly	-	OMIM:615777
2517	FUCA1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2517	FUCA1	HP:0000821	Hypothyroidism	HP:0040281	ORPHA:349
2517	FUCA1	HP:0000823	Delayed puberty	-	OMIM:131300
2517	FUCA1	HP:0000894	Short clavicles	-	OMIM:615777
2517	FUCA1	HP:0004558	Cervical platyspondyly	-	OMIM:230000
2517	FUCA1	HP:0004568	Beaking of vertebral bodies	1/1	OMIM:230000
2517	FUCA1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2517	FUCA1	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:349
2517	FUCA1	HP:0000978	Bruising susceptibility	2/2	OMIM:230000
2517	FUCA1	HP:0000958	Dry skin	-	OMIM:230000
2517	FUCA1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2517	FUCA1	HP:0000970	Anhidrosis	-	OMIM:230000
2517	FUCA1	HP:0000967	Petechiae	2/2	OMIM:230000
2517	FUCA1	HP:0000943	Dysostosis multiplex	3/3	OMIM:230000
2517	FUCA1	HP:0000943	Dysostosis multiplex	HP:0040281	ORPHA:349
2517	FUCA1	HP:0000286	Epicanthus	1/7	OMIM:615777
2517	FUCA1	HP:0000280	Coarse facial features	HP:0040281	ORPHA:349
2517	FUCA1	HP:0000280	Coarse facial features	2/7	OMIM:615777
2517	FUCA1	HP:0000280	Coarse facial features	0/1	OMIM:230000
2517	FUCA1	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:349
2517	FUCA1	HP:0012236	Elevated sweat chloride	-	OMIM:230000
2517	FUCA1	HP:0002827	Hip dislocation	3/7	OMIM:615777
2517	FUCA1	HP:0002808	Kyphosis	HP:0040281	ORPHA:349
2517	FUCA1	HP:0000240	Abnormality of skull size	0/1	OMIM:230000
2517	FUCA1	HP:0000252	Microcephaly	-	OMIM:615777
2517	FUCA1	HP:0000248	Brachycephaly	HP:0040281	ORPHA:349
2517	FUCA1	HP:0001552	Barrel-shaped chest	-	OMIM:230000
2517	FUCA1	HP:0002857	Genu valgum	-	OMIM:131300
2517	FUCA1	HP:0001533	Slender build	-	OMIM:131300
2517	FUCA1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:349
2517	FUCA1	HP:0001508	Failure to thrive	2/2	OMIM:230000
2517	FUCA1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2517	FUCA1	HP:0007807	Optic nerve compression	-	OMIM:131300
2517	FUCA1	HP:0012368	Flat face	7/7	OMIM:615777
2517	FUCA1	HP:0005264	Abnormality of the gallbladder	HP:0040282	ORPHA:349
2517	FUCA1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2517	FUCA1	HP:0002938	Lumbar hyperlordosis	-	OMIM:230000
2517	FUCA1	HP:0000365	Hearing impairment	HP:0040281	ORPHA:349
2517	FUCA1	HP:0000365	Hearing impairment	1/2	OMIM:230000
2517	FUCA1	HP:0000365	Hearing impairment	10/67	OMIM:131300
2517	FUCA1	HP:0000369	Low-set ears	2/2	OMIM:230000
2517	FUCA1	HP:0000343	Long philtrum	1/7	OMIM:615777
2517	FUCA1	HP:0011001	Increased bone mineral density	-	OMIM:131300
2517	FUCA1	HP:0000316	Hypertelorism	2/2	OMIM:230000
2517	FUCA1	HP:0000311	Round face	2/7	OMIM:615777
2517	FUCA1	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:349
2517	FUCA1	HP:0001640	Cardiomegaly	-	OMIM:230000
2517	FUCA1	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:349
2517	FUCA1	HP:0002970	Genu varum	-	OMIM:615777
2517	FUCA1	HP:0000303	Mandibular prognathia	-	OMIM:131300
2517	FUCA1	HP:0007957	Corneal opacity	HP:0040282	ORPHA:349
2517	FUCA1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2517	FUCA1	HP:0005280	Depressed nasal bridge	2/2	OMIM:230000
2517	FUCA1	HP:0000470	Short neck	1/7	OMIM:615777
2517	FUCA1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2517	FUCA1	HP:0001763	Pes planus	1/7	OMIM:615777
2517	FUCA1	HP:0000445	Wide nose	-	OMIM:230000
2517	FUCA1	HP:0001744	Splenomegaly	-	OMIM:230000
2517	FUCA1	HP:0011276	Vascular skin abnormality	HP:0040282	ORPHA:349
2517	FUCA1	HP:0005453	Absent/hypoplastic paranasal sinuses	-	OMIM:230000
2517	FUCA1	HP:0001840	Metatarsus adductus	-	OMIM:615777
2517	FUCA1	HP:0000520	Proptosis	2/4	OMIM:131300
2517	FUCA1	HP:0000520	Proptosis	7/7	OMIM:615777
2517	FUCA1	HP:0000503	Tortuosity of conjunctival vessels	-	OMIM:230000
2517	FUCA1	HP:0000592	Blue sclerae	2/7	OMIM:615777
2517	FUCA1	HP:0011220	Prominent forehead	HP:0040281	ORPHA:349
2517	FUCA1	HP:0011220	Prominent forehead	-	OMIM:230000
2517	FUCA1	HP:0000574	Thick eyebrow	-	OMIM:230000
2517	FUCA1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2517	FUCA1	HP:0012514	Lower limb pain	4/4	OMIM:131300
2521	FUS	HP:0002483	Bulbar signs	HP:0040282	ORPHA:300605
2521	FUS	HP:0002463	Language impairment	HP:0040283	ORPHA:803
2521	FUS	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:275872
2521	FUS	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:300605
2521	FUS	HP:0002442	Dyscalculia	HP:0040282	ORPHA:275872
2521	FUS	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:275872
2521	FUS	HP:0002425	Anarthria	HP:0040283	ORPHA:300605
2521	FUS	HP:0003722	Neck flexor weakness	HP:0040283	ORPHA:300605
2521	FUS	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:275872
2521	FUS	HP:0003701	Proximal muscle weakness	HP:0040283	ORPHA:300605
2521	FUS	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:275872
2521	FUS	HP:0001276	Hypertonia	HP:0040282	ORPHA:300605
2521	FUS	HP:0002599	Head titubation	HP:0040283	ORPHA:300605
2521	FUS	HP:0001288	Gait disturbance	-	OMIM:608030
2521	FUS	HP:0001288	Gait disturbance	HP:0040282	ORPHA:300605
2521	FUS	HP:0001283	Bulbar palsy	HP:0040283	ORPHA:275872
2521	FUS	HP:0001251	Ataxia	HP:0040283	ORPHA:300605
2521	FUS	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:99967
2521	FUS	HP:0001265	Hyporeflexia	-	OMIM:608030
2521	FUS	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:275872
2521	FUS	HP:0001264	Spastic diplegia	HP:0040282	ORPHA:300605
2521	FUS	HP:0001260	Dysarthria	HP:0040282	ORPHA:275872
2521	FUS	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
2521	FUS	HP:0001263	Global developmental delay	HP:0040283	ORPHA:300605
2521	FUS	HP:0001257	Spasticity	HP:0040282	ORPHA:803
2521	FUS	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
2521	FUS	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:608030
2521	FUS	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
2521	FUS	HP:0007354	Amyotrophic lateral sclerosis	HP:0040281	ORPHA:300605
2521	FUS	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
2521	FUS	HP:0002540	Inability to walk	HP:0040282	ORPHA:300605
2521	FUS	HP:0002544	Retrocollis	HP:0040283	ORPHA:300605
2521	FUS	HP:0002530	Axial dystonia	HP:0040283	ORPHA:300605
2521	FUS	HP:0002529	Neuronal loss in central nervous system	-	OMIM:608030
2521	FUS	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
2521	FUS	HP:0012048	Oromandibular dystonia	HP:0040283	ORPHA:300605
2521	FUS	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:300605
2521	FUS	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:300605
2521	FUS	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
2521	FUS	HP:0001332	Dystonia	HP:0040282	ORPHA:300605
2521	FUS	HP:0001324	Muscle weakness	HP:0040281	ORPHA:300605
2521	FUS	HP:0000006	Autosomal dominant inheritance	-	OMIM:608030
2521	FUS	HP:0000006	Autosomal dominant inheritance	-	OMIM:614782
2521	FUS	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
2521	FUS	HP:0002650	Scoliosis	HP:0040283	ORPHA:300605
2521	FUS	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:300605
2521	FUS	HP:0001300	Parkinsonism	HP:0040282	ORPHA:275872
2521	FUS	HP:0001300	Parkinsonism	HP:0040283	ORPHA:300605
2521	FUS	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:99967
2521	FUS	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
2521	FUS	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
2521	FUS	HP:0002027	Abdominal pain	HP:0040283	ORPHA:99967
2521	FUS	HP:0002015	Dysphagia	HP:0040282	ORPHA:275872
2521	FUS	HP:0002015	Dysphagia	HP:0040283	ORPHA:300605
2521	FUS	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
2521	FUS	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
2521	FUS	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:300605
2521	FUS	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
2521	FUS	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
2521	FUS	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
2521	FUS	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:300605
2521	FUS	HP:0002072	Chorea	HP:0040283	ORPHA:300605
2521	FUS	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:275872
2521	FUS	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:275872
2521	FUS	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
2521	FUS	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:275872
2521	FUS	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
2521	FUS	HP:0003470	Paralysis	HP:0040282	ORPHA:803
2521	FUS	HP:0003487	Babinski sign	HP:0040283	ORPHA:275872
2521	FUS	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
2521	FUS	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
2521	FUS	HP:0002127	Abnormal upper motor neuron morphology	HP:0040281	ORPHA:275872
2521	FUS	HP:0003429	CNS hypomyelination	HP:0040282	ORPHA:300605
2521	FUS	HP:0002186	Apraxia	HP:0040282	ORPHA:275872
2521	FUS	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
2521	FUS	HP:0002169	Clonus	HP:0040283	ORPHA:300605
2521	FUS	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:300605
2521	FUS	HP:0002179	Opisthotonus	HP:0040283	ORPHA:300605
2521	FUS	HP:0002174	Postural tremor	-	OMIM:614782
2521	FUS	HP:0002171	Gliosis	HP:0040282	ORPHA:275872
2521	FUS	HP:0010549	Weakness due to upper motor neuron dysfunction	HP:0040282	ORPHA:275872
2521	FUS	HP:0002273	Tetraparesis	HP:0040282	ORPHA:275872
2521	FUS	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:275872
2521	FUS	HP:0008322	Abnormal mitochondrial morphology	HP:0040283	ORPHA:275872
2521	FUS	HP:0002385	Paraparesis	HP:0040282	ORPHA:275872
2521	FUS	HP:0002380	Fasciculations	HP:0040283	ORPHA:275872
2521	FUS	HP:0002380	Fasciculations	-	OMIM:608030
2521	FUS	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
2521	FUS	HP:0002366	Abnormal lower motor neuron morphology	HP:0040281	ORPHA:275872
2521	FUS	HP:0003693	Distal amyotrophy	HP:0040281	ORPHA:300605
2521	FUS	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
2521	FUS	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
2521	FUS	HP:0002345	Action tremor	-	OMIM:614782
2521	FUS	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
2521	FUS	HP:0002314	Degeneration of the lateral corticospinal tracts	HP:0040282	ORPHA:275872
2521	FUS	HP:0007126	Proximal amyotrophy	-	OMIM:608030
2521	FUS	HP:0002300	Mutism	HP:0040283	ORPHA:275872
2521	FUS	HP:0002307	Drooling	HP:0040282	ORPHA:803
2521	FUS	HP:0007190	Neuronal loss in the cerebral cortex	HP:0040282	ORPHA:275872
2521	FUS	HP:0000639	Nystagmus	HP:0040283	ORPHA:300605
2521	FUS	HP:0000605	Supranuclear gaze palsy	HP:0040283	ORPHA:275872
2521	FUS	HP:0000605	Supranuclear gaze palsy	HP:0040283	ORPHA:300605
2521	FUS	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
2521	FUS	HP:0006986	Upper limb spasticity	HP:0040281	ORPHA:300605
2521	FUS	HP:0004326	Cachexia	HP:0040283	ORPHA:300605
2521	FUS	HP:0004326	Cachexia	HP:0040283	ORPHA:803
2521	FUS	HP:0031960	Arm dystonia	HP:0040282	ORPHA:300605
2521	FUS	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
2521	FUS	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:300605
2521	FUS	HP:0000738	Hallucinations	HP:0040282	ORPHA:275872
2521	FUS	HP:0000739	Anxiety	HP:0040282	ORPHA:803
2521	FUS	HP:0000734	Disinhibition	HP:0040283	ORPHA:275872
2521	FUS	HP:0000741	Apathy	HP:0040282	ORPHA:275872
2521	FUS	HP:0000716	Depression	HP:0040282	ORPHA:275872
2521	FUS	HP:0000716	Depression	HP:0040282	ORPHA:803
2521	FUS	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
2521	FUS	HP:0000708	Atypical behavior	HP:0040282	ORPHA:275872
2521	FUS	HP:0000708	Atypical behavior	HP:0040283	ORPHA:300605
2521	FUS	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
2521	FUS	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:300605
2521	FUS	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
2521	FUS	HP:0005750	Lower-limb joint contracture	HP:0040282	ORPHA:300605
2521	FUS	HP:0100360	Upper-limb joint contracture	HP:0040282	ORPHA:300605
2521	FUS	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
2521	FUS	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:300605
2521	FUS	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
2521	FUS	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:300605
2521	FUS	HP:0000252	Microcephaly	HP:0040283	ORPHA:300605
2521	FUS	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
2521	FUS	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
2521	FUS	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:300605
2521	FUS	HP:0012378	Fatigue	HP:0040282	ORPHA:803
2521	FUS	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
2521	FUS	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
2521	FUS	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
2521	FUS	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
2521	FUS	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
2521	FUS	HP:0030223	Perseverative thought	HP:0040283	ORPHA:275872
2521	FUS	HP:0001824	Weight loss	HP:0040282	ORPHA:803
2521	FUS	HP:0000508	Ptosis	HP:0040284	ORPHA:275872
2521	FUS	HP:0012531	Pain	HP:0040282	ORPHA:803
2530	FUT8	HP:0001250	Seizure	3/3	OMIM:618005
2530	FUT8	HP:0001252	Hypotonia	3/3	OMIM:618005
2530	FUT8	HP:0001249	Intellectual disability	3/3	OMIM:618005
2530	FUT8	HP:0000007	Autosomal recessive inheritance	-	OMIM:618005
2530	FUT8	HP:0000121	Nephrocalcinosis	1/3	OMIM:618005
2530	FUT8	HP:0002783	Recurrent lower respiratory tract infections	1/3	OMIM:618005
2530	FUT8	HP:0002751	Kyphoscoliosis	1/3	OMIM:618005
2530	FUT8	HP:0003577	Congenital onset	3/3	OMIM:618005
2530	FUT8	HP:0011968	Feeding difficulties	3/3	OMIM:618005
2530	FUT8	HP:0001007	Hirsutism	1/3	OMIM:618005
2530	FUT8	HP:0009826	Limb undergrowth	3/3	OMIM:618005
2530	FUT8	HP:0001943	Hypoglycemia	1/3	OMIM:618005
2530	FUT8	HP:0011344	Severe global developmental delay	3/3	OMIM:618005
2530	FUT8	HP:0004322	Short stature	3/3	OMIM:618005
2530	FUT8	HP:0003196	Short nose	1/3	OMIM:618005
2530	FUT8	HP:0000821	Hypothyroidism	1/3	OMIM:618005
2530	FUT8	HP:0034392	Joint contracture	1/3	OMIM:618005
2530	FUT8	HP:0000938	Osteopenia	1/3	OMIM:618005
2530	FUT8	HP:0000278	Retrognathia	1/3	OMIM:618005
2530	FUT8	HP:0002827	Hip dislocation	1/3	OMIM:618005
2530	FUT8	HP:0000252	Microcephaly	3/3	OMIM:618005
2530	FUT8	HP:0000218	High palate	1/3	OMIM:618005
2530	FUT8	HP:0001561	Polyhydramnios	2/3	OMIM:618005
2530	FUT8	HP:0001508	Failure to thrive	3/3	OMIM:618005
2530	FUT8	HP:0001511	Intrauterine growth retardation	3/3	OMIM:618005
2530	FUT8	HP:0000341	Narrow forehead	1/3	OMIM:618005
2530	FUT8	HP:0000337	Broad forehead	1/3	OMIM:618005
2530	FUT8	HP:0000348	High forehead	1/3	OMIM:618005
2530	FUT8	HP:0001643	Patent ductus arteriosus	1/3	OMIM:618005
2530	FUT8	HP:0001631	Atrial septal defect	1/3	OMIM:618005
2530	FUT8	HP:0000431	Wide nasal bridge	1/3	OMIM:618005
2530	FUT8	HP:0000501	Glaucoma	1/3	OMIM:618005
2530	FUT8	HP:0000557	Buphthalmos	1/3	OMIM:618005
2530	FUT8	HP:0001875	Decreased total neutrophil count	1/3	OMIM:618005
2531	KDSR	HP:0001182	Tapered finger	HP:0040283	ORPHA:317
2531	KDSR	HP:0001156	Brachydactyly	HP:0040283	ORPHA:317
2531	KDSR	HP:0001249	Intellectual disability	HP:0040283	ORPHA:317
2531	KDSR	HP:0007400	Irregular hyperpigmentation	HP:0040282	ORPHA:317
2531	KDSR	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:317
2531	KDSR	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1/4	OMIM:617526
2531	KDSR	HP:0000007	Autosomal recessive inheritance	-	OMIM:617526
2531	KDSR	HP:0003577	Congenital onset	4/4	OMIM:617526
2531	KDSR	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:317
2531	KDSR	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:317
2531	KDSR	HP:0025092	Epidermal acanthosis	-	OMIM:617526
2531	KDSR	HP:0200035	Skin plaque	HP:0040281	ORPHA:316
2531	KDSR	HP:0010783	Erythema	HP:0040281	ORPHA:317
2531	KDSR	HP:0010783	Erythema	HP:0040281	ORPHA:316
2531	KDSR	HP:0010783	Erythema	4/4	OMIM:617526
2531	KDSR	HP:0005588	Patchy palmoplantar hyperkeratosis	HP:0040282	ORPHA:317
2531	KDSR	HP:0004322	Short stature	HP:0040281	ORPHA:317
2531	KDSR	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:317
2531	KDSR	HP:0012733	Macule	HP:0040281	ORPHA:317
2531	KDSR	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:317
2531	KDSR	HP:0000972	Palmoplantar hyperkeratosis	4/4	OMIM:617526
2531	KDSR	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:317
2531	KDSR	HP:0000988	Skin rash	HP:0040281	ORPHA:317
2531	KDSR	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:316
2531	KDSR	HP:0000958	Dry skin	HP:0040282	ORPHA:317
2531	KDSR	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:317
2531	KDSR	HP:0000962	Hyperkeratosis	4/4	OMIM:617526
2531	KDSR	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:317
2531	KDSR	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:317
2531	KDSR	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:317
2531	KDSR	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:317
2531	KDSR	HP:0001596	Alopecia	HP:0040282	ORPHA:317
2531	KDSR	HP:0000252	Microcephaly	HP:0040281	ORPHA:317
2531	KDSR	HP:0000365	Hearing impairment	HP:0040283	ORPHA:317
2531	KDSR	HP:0007957	Corneal opacity	HP:0040283	ORPHA:317
2531	KDSR	HP:0000411	Protruding ear	HP:0040283	ORPHA:317
2531	KDSR	HP:0000518	Cataract	HP:0040282	ORPHA:317
2531	KDSR	HP:0001824	Weight loss	HP:0040281	ORPHA:317
2531	KDSR	HP:0000501	Glaucoma	HP:0040282	ORPHA:317
2533	FYB1	HP:0007420	Spontaneous hematomas	1/5	OMIM:273900
2533	FYB1	HP:0000007	Autosomal recessive inheritance	20/20	OMIM:273900
2533	FYB1	HP:0012143	Abnormal megakaryocyte morphology	0/4	OMIM:273900
2533	FYB1	HP:0000132	Menorrhagia	2/2	OMIM:273900
2533	FYB1	HP:0003593	Infantile onset	5/5	OMIM:273900
2533	FYB1	HP:0003621	Juvenile onset	1/3	OMIM:273900
2533	FYB1	HP:0005537	Decreased mean platelet volume	8/8	OMIM:273900
2533	FYB1	HP:0005548	Megakaryocytopenia	0/4	OMIM:273900
2533	FYB1	HP:0003010	Prolonged bleeding time	2/3	OMIM:273900
2533	FYB1	HP:0011463	Childhood onset	2/3	OMIM:273900
2533	FYB1	HP:0000979	Purpura	1/1	OMIM:273900
2533	FYB1	HP:0000967	Petechiae	1/5	OMIM:273900
2533	FYB1	HP:0000225	Gingival bleeding	1/5	OMIM:273900
2533	FYB1	HP:0001744	Splenomegaly	0/5	OMIM:273900
2533	FYB1	HP:0000421	Epistaxis	0/5	OMIM:273900
2533	FYB1	HP:0001892	Abnormal bleeding	2/2	OMIM:273900
2533	FYB1	HP:0001873	Thrombocytopenia	8/8	OMIM:273900
2535	FZD2	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3107
2535	FZD2	HP:0003762	Uterus didelphys	1/2	OMIM:164745
2535	FZD2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2535	FZD2	HP:0001293	Cranial nerve compression	-	OMIM:131300
2535	FZD2	HP:0001252	Hypotonia	2/7	OMIM:615777
2535	FZD2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3107
2535	FZD2	HP:0001249	Intellectual disability	5/7	OMIM:615777
2535	FZD2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:3107
2535	FZD2	HP:0001263	Global developmental delay	-	OMIM:615777
2535	FZD2	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:3107
2535	FZD2	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:3107
2535	FZD2	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:93328
2535	FZD2	HP:0002515	Waddling gait	54/102	OMIM:131300
2535	FZD2	HP:0000066	Labial hypoplasia	1/2	OMIM:164745
2535	FZD2	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:93328
2535	FZD2	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:3107
2535	FZD2	HP:0000060	Clitoral hypoplasia	1/2	OMIM:164745
2535	FZD2	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:3107
2535	FZD2	HP:0000059	Hypoplastic labia majora	HP:0040282	ORPHA:3107
2535	FZD2	HP:0000036	Abnormal penis morphology	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000039	Epispadias	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000054	Micropenis	-	OMIM:164745
2535	FZD2	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:3107
2535	FZD2	HP:0001382	Joint hypermobility	-	OMIM:615777
2535	FZD2	HP:0000048	Bifid scrotum	HP:0040282	ORPHA:93328
2535	FZD2	HP:0000047	Hypospadias	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000047	Hypospadias	-	OMIM:164745
2535	FZD2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:3107
2535	FZD2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2535	FZD2	HP:0000028	Cryptorchidism	-	OMIM:164745
2535	FZD2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3107
2535	FZD2	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:93328
2535	FZD2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2535	FZD2	HP:0001328	Specific learning disability	HP:0040283	ORPHA:3107
2535	FZD2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2535	FZD2	HP:0001324	Muscle weakness	40/96	OMIM:131300
2535	FZD2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2535	FZD2	HP:0002673	Coxa valga	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2535	FZD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:164745
2535	FZD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2535	FZD2	HP:0002650	Scoliosis	1/2	OMIM:164745
2535	FZD2	HP:0002650	Scoliosis	12/14	OMIM:131300
2535	FZD2	HP:0002650	Scoliosis	HP:0040283	ORPHA:3107
2535	FZD2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2535	FZD2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2535	FZD2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2535	FZD2	HP:0008905	Rhizomelia	HP:0040281	ORPHA:93328
2535	FZD2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2535	FZD2	HP:0000175	Cleft palate	1/2	OMIM:164745
2535	FZD2	HP:0000175	Cleft palate	2/7	OMIM:615777
2535	FZD2	HP:0000168	Abnormality of the gingiva	HP:0040282	ORPHA:3107
2535	FZD2	HP:0005025	Hypoplastic distal humeri	-	OMIM:164745
2535	FZD2	HP:0007665	Curly eyelashes	HP:0040282	ORPHA:3107
2535	FZD2	HP:0002705	High, narrow palate	HP:0040282	ORPHA:3107
2535	FZD2	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:3107
2535	FZD2	HP:0002020	Gastroesophageal reflux	1/2	OMIM:164745
2535	FZD2	HP:0002007	Frontal bossing	HP:0040282	ORPHA:3107
2535	FZD2	HP:0002007	Frontal bossing	-	OMIM:164745
2535	FZD2	HP:0002007	Frontal bossing	HP:0040282	ORPHA:93328
2535	FZD2	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:3107
2535	FZD2	HP:0011800	Midface retrusion	HP:0040281	ORPHA:3107
2535	FZD2	HP:0100541	Femoral hernia	HP:0040283	ORPHA:3107
2535	FZD2	HP:0003388	Easy fatigability	36/76	OMIM:131300
2535	FZD2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2535	FZD2	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:3107
2535	FZD2	HP:0003577	Congenital onset	2/2	OMIM:164745
2535	FZD2	HP:0008402	Ridged fingernail	HP:0040283	ORPHA:3107
2535	FZD2	HP:0100798	Fingernail dysplasia	HP:0040283	ORPHA:3107
2535	FZD2	HP:0011968	Feeding difficulties	1/2	OMIM:164745
2535	FZD2	HP:0003510	Severe short stature	7/7	OMIM:615777
2535	FZD2	HP:0003510	Severe short stature	HP:0040282	ORPHA:3107
2535	FZD2	HP:0002315	Headache	-	OMIM:131300
2535	FZD2	HP:0004976	Knee dislocation	6/7	OMIM:615777
2535	FZD2	HP:0004991	Rhizomelic arm shortening	2/2	OMIM:164745
2535	FZD2	HP:0010804	Tented upper lip vermilion	1/2	OMIM:164745
2535	FZD2	HP:0010807	Open bite	HP:0040282	ORPHA:3107
2535	FZD2	HP:0001076	Glabellar hemangioma	1/2	OMIM:164745
2535	FZD2	HP:0009803	Short phalanx of finger	-	OMIM:615777
2535	FZD2	HP:0009763	Limb pain	63/92	OMIM:131300
2535	FZD2	HP:0010733	Naevus flammeus of the eyelid	HP:0040283	ORPHA:3107
2535	FZD2	HP:0003621	Juvenile onset	-	OMIM:131300
2535	FZD2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2535	FZD2	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:3107
2535	FZD2	HP:0004209	Clinodactyly of the 5th finger	1/2	OMIM:164745
2535	FZD2	HP:0009099	Median cleft palate	HP:0040282	ORPHA:3107
2535	FZD2	HP:0004279	Short palm	HP:0040281	ORPHA:3107
2535	FZD2	HP:0004279	Short palm	HP:0040283	ORPHA:93328
2535	FZD2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2535	FZD2	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:3107
2535	FZD2	HP:6001056	Out-toeing	-	OMIM:131300
2535	FZD2	HP:0000651	Diplopia	-	OMIM:131300
2535	FZD2	HP:0001956	Truncal obesity	2/7	OMIM:615777
2535	FZD2	HP:0001903	Anemia	HP:0040283	OMIM:131300
2535	FZD2	HP:0010049	Short metacarpal	-	OMIM:615777
2535	FZD2	HP:0010034	Short 1st metacarpal	-	OMIM:164745
2535	FZD2	HP:0010034	Short 1st metacarpal	HP:0040281	ORPHA:93328
2535	FZD2	HP:0000678	Dental crowding	-	OMIM:615777
2535	FZD2	HP:0000674	Anodontia	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000677	Oligodontia	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000670	Carious teeth	-	OMIM:131300
2535	FZD2	HP:0011304	Broad thumb	2/7	OMIM:615777
2535	FZD2	HP:0000668	Hypodontia	-	OMIM:615777
2535	FZD2	HP:0000668	Hypodontia	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000664	Synophrys	-	OMIM:615777
2535	FZD2	HP:0004322	Short stature	HP:0040282	ORPHA:3107
2535	FZD2	HP:0003083	Dislocated radial head	1/2	OMIM:164745
2535	FZD2	HP:0004396	Poor appetite	-	OMIM:131300
2535	FZD2	HP:0003038	Fibular hypoplasia	1/2	OMIM:164745
2535	FZD2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2535	FZD2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2535	FZD2	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:3107
2535	FZD2	HP:0003042	Elbow dislocation	HP:0040281	ORPHA:93328
2535	FZD2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2535	FZD2	HP:0003026	Short long bone	7/7	OMIM:615777
2535	FZD2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2535	FZD2	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:3107
2535	FZD2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2535	FZD2	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2535	FZD2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2535	FZD2	HP:0000750	Delayed speech and language development	-	OMIM:615777
2535	FZD2	HP:0011461	Fetal onset	7/7	OMIM:615777
2535	FZD2	HP:0000774	Narrow chest	2/7	OMIM:615777
2535	FZD2	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040283	ORPHA:3107
2535	FZD2	HP:0012905	Euryblepharon	HP:0040282	ORPHA:3107
2535	FZD2	HP:0003196	Short nose	HP:0040281	ORPHA:3107
2535	FZD2	HP:0003196	Short nose	HP:0040282	ORPHA:93328
2535	FZD2	HP:0000926	Platyspondyly	1/7	OMIM:615777
2535	FZD2	HP:0003180	Flat acetabular roof	-	OMIM:615777
2535	FZD2	HP:0004482	Relative macrocephaly	-	OMIM:615777
2535	FZD2	HP:0005792	Short humerus	2/2	OMIM:164745
2535	FZD2	HP:0005792	Short humerus	HP:0040281	ORPHA:93328
2535	FZD2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2535	FZD2	HP:0100336	Bilateral cleft lip	1/2	OMIM:164745
2535	FZD2	HP:0000823	Delayed puberty	-	OMIM:131300
2535	FZD2	HP:0010297	Bifid tongue	HP:0040282	ORPHA:3107
2535	FZD2	HP:0040036	Onychogryphosis of fingernail	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000894	Short clavicles	-	OMIM:615777
2535	FZD2	HP:0004573	Anterior wedging of T11	1/2	OMIM:164745
2535	FZD2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2535	FZD2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2535	FZD2	HP:0000960	Sacral dimple	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000286	Epicanthus	HP:0040282	ORPHA:3107
2535	FZD2	HP:0000286	Epicanthus	1/7	OMIM:615777
2535	FZD2	HP:0000280	Coarse facial features	2/7	OMIM:615777
2535	FZD2	HP:0000278	Retrognathia	HP:0040282	ORPHA:3107
2535	FZD2	HP:0001596	Alopecia	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000256	Macrocephaly	HP:0040282	ORPHA:3107
2535	FZD2	HP:0000272	Malar flattening	HP:0040282	ORPHA:93328
2535	FZD2	HP:0006429	Broad femoral neck	1/2	OMIM:164745
2535	FZD2	HP:0002812	Coxa vara	HP:0040283	ORPHA:3107
2535	FZD2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:3107
2535	FZD2	HP:0002827	Hip dislocation	3/7	OMIM:615777
2535	FZD2	HP:0005060	Limited elbow flexion/extension	-	OMIM:164745
2535	FZD2	HP:0006376	Limited elbow flexion	-	OMIM:164745
2535	FZD2	HP:0000252	Microcephaly	-	OMIM:615777
2535	FZD2	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:3107
2535	FZD2	HP:0030016	Dyspareunia	1/2	OMIM:164745
2535	FZD2	HP:0002857	Genu valgum	-	OMIM:131300
2535	FZD2	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:3107
2535	FZD2	HP:0001533	Slender build	-	OMIM:131300
2535	FZD2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2535	FZD2	HP:0007807	Optic nerve compression	-	OMIM:131300
2535	FZD2	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:3107
2535	FZD2	HP:0012368	Flat face	7/7	OMIM:615777
2535	FZD2	HP:0000396	Overfolded helix	1/2	OMIM:164745
2535	FZD2	HP:0002937	Hemivertebrae	HP:0040282	ORPHA:3107
2535	FZD2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2535	FZD2	HP:0000365	Hearing impairment	10/67	OMIM:131300
2535	FZD2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000358	Posteriorly rotated ears	1/2	OMIM:164745
2535	FZD2	HP:0000369	Low-set ears	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000343	Long philtrum	HP:0040282	ORPHA:3107
2535	FZD2	HP:0000343	Long philtrum	1/2	OMIM:164745
2535	FZD2	HP:0000343	Long philtrum	1/7	OMIM:615777
2535	FZD2	HP:0000343	Long philtrum	HP:0040282	ORPHA:93328
2535	FZD2	HP:0011001	Increased bone mineral density	-	OMIM:131300
2535	FZD2	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:93328
2535	FZD2	HP:0000347	Micrognathia	1/2	OMIM:164745
2535	FZD2	HP:0000347	Micrognathia	HP:0040282	ORPHA:3107
2535	FZD2	HP:0000347	Micrognathia	HP:0040283	ORPHA:93328
2535	FZD2	HP:0002983	Micromelia	HP:0040281	ORPHA:3107
2535	FZD2	HP:0000316	Hypertelorism	2/2	OMIM:164745
2535	FZD2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:3107
2535	FZD2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:93328
2535	FZD2	HP:0000311	Round face	2/7	OMIM:615777
2535	FZD2	HP:0000322	Short philtrum	HP:0040283	ORPHA:3107
2535	FZD2	HP:0002970	Genu varum	-	OMIM:615777
2535	FZD2	HP:0000303	Mandibular prognathia	-	OMIM:131300
2535	FZD2	HP:0005306	Capillary hemangioma	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000403	Recurrent otitis media	1/2	OMIM:164745
2535	FZD2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:3107
2535	FZD2	HP:0005280	Depressed nasal bridge	2/2	OMIM:164745
2535	FZD2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2535	FZD2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:93328
2535	FZD2	HP:0000486	Strabismus	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000463	Anteverted nares	HP:0040281	ORPHA:3107
2535	FZD2	HP:0000456	Bifid nasal tip	-	OMIM:164745
2535	FZD2	HP:0000470	Short neck	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000470	Short neck	1/7	OMIM:615777
2535	FZD2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2535	FZD2	HP:0001763	Pes planus	1/7	OMIM:615777
2535	FZD2	HP:0000445	Wide nose	HP:0040281	ORPHA:3107
2535	FZD2	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:3107
2535	FZD2	HP:0000431	Wide nasal bridge	1/2	OMIM:164745
2535	FZD2	HP:0001840	Metatarsus adductus	-	OMIM:615777
2535	FZD2	HP:0000527	Long eyelashes	HP:0040282	ORPHA:3107
2535	FZD2	HP:0000520	Proptosis	2/4	OMIM:131300
2535	FZD2	HP:0000520	Proptosis	HP:0040282	ORPHA:3107
2535	FZD2	HP:0000520	Proptosis	7/7	OMIM:615777
2535	FZD2	HP:0000508	Ptosis	HP:0040283	ORPHA:3107
2535	FZD2	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:3107
2535	FZD2	HP:0000592	Blue sclerae	2/7	OMIM:615777
2535	FZD2	HP:0000592	Blue sclerae	HP:0040283	ORPHA:3107
2535	FZD2	HP:0011220	Prominent forehead	HP:0040282	ORPHA:3107
2535	FZD2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2535	FZD2	HP:0012514	Lower limb pain	4/4	OMIM:131300
2538	G6PC1	HP:0001114	Xanthelasma	-	OMIM:232200
2538	G6PC1	HP:0000097	Focal segmental glomerulosclerosis	-	OMIM:232200
2538	G6PC1	HP:0000093	Proteinuria	-	OMIM:232200
2538	G6PC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:232200
2538	G6PC1	HP:0000105	Enlarged kidney	-	OMIM:232200
2538	G6PC1	HP:0001402	Hepatocellular carcinoma	-	OMIM:232200
2538	G6PC1	HP:0002149	Hyperuricemia	1/5	OMIM:232200
2538	G6PC1	HP:0003593	Infantile onset	3/5	OMIM:232200
2538	G6PC1	HP:0002240	Hepatomegaly	5/5	OMIM:232200
2538	G6PC1	HP:0002254	Intermittent diarrhea	-	OMIM:232200
2538	G6PC1	HP:0001943	Hypoglycemia	-	OMIM:232200
2538	G6PC1	HP:0000660	Lipemia retinalis	-	OMIM:232200
2538	G6PC1	HP:0001997	Gout	-	OMIM:232200
2538	G6PC1	HP:0004322	Short stature	-	OMIM:232200
2538	G6PC1	HP:0003077	Hyperlipidemia	5/5	OMIM:232200
2538	G6PC1	HP:0011463	Childhood onset	2/5	OMIM:232200
2538	G6PC1	HP:0000787	Nephrolithiasis	-	OMIM:232200
2538	G6PC1	HP:0003199	Decreased muscle mass	-	OMIM:232200
2538	G6PC1	HP:0003162	Fasting hypoglycemia	5/5	OMIM:232200
2538	G6PC1	HP:0003128	Lactic acidosis	5/5	OMIM:232200
2538	G6PC1	HP:0000822	Hypertension	-	OMIM:232200
2538	G6PC1	HP:0000823	Delayed puberty	-	OMIM:232200
2538	G6PC1	HP:0000991	Xanthomatosis	-	OMIM:232200
2538	G6PC1	HP:0000939	Osteoporosis	-	OMIM:232200
2538	G6PC1	HP:0000295	Doll-like facies	-	OMIM:232200
2538	G6PC1	HP:0012213	Decreased glomerular filtration rate	-	OMIM:232200
2538	G6PC1	HP:0001538	Protuberant abdomen	-	OMIM:232200
2538	G6PC1	HP:0001510	Growth delay	1/5	OMIM:232200
2538	G6PC1	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:232200
2538	G6PC1	HP:0001733	Pancreatitis	-	OMIM:232200
2538	G6PC1	HP:0001892	Abnormal bleeding	-	OMIM:232200
2539	G6PD	HP:0410179	Decreased glucose-6-phosphate dehydrogenase level in blood	20/20	OMIM:300908
2539	G6PD	HP:0001423	X-linked dominant inheritance	-	OMIM:300908
2539	G6PD	HP:0002027	Abdominal pain	11/11	OMIM:300908
2539	G6PD	HP:0008282	Unconjugated hyperbilirubinemia	-	OMIM:300908
2539	G6PD	HP:0003596	Middle age onset	1/19	OMIM:300908
2539	G6PD	HP:0003593	Infantile onset	4/19	OMIM:300908
2539	G6PD	HP:0003577	Congenital onset	3/19	OMIM:300908
2539	G6PD	HP:0020082	Heinz bodies	-	OMIM:300908
2539	G6PD	HP:0004814	Fava bean-induced hemolytic anemia	16/16	OMIM:300908
2539	G6PD	HP:0003641	Hemoglobinuria	-	OMIM:300908
2539	G6PD	HP:0003621	Juvenile onset	3/19	OMIM:300908
2539	G6PD	HP:0001974	Increased total leukocyte count	-	OMIM:300908
2539	G6PD	HP:0001945	Fever	11/11	OMIM:300908
2539	G6PD	HP:0001923	Reticulocytosis	-	OMIM:300908
2539	G6PD	HP:0011463	Childhood onset	7/19	OMIM:300908
2539	G6PD	HP:0011462	Young adult onset	1/19	OMIM:300908
2539	G6PD	HP:0004447	Poikilocytosis	-	OMIM:300908
2539	G6PD	HP:0000980	Pallor	-	OMIM:300908
2539	G6PD	HP:0000952	Jaundice	1/1	OMIM:300908
2539	G6PD	HP:0006579	Prolonged neonatal jaundice	19/19	OMIM:300908
2539	G6PD	HP:0001744	Splenomegaly	17/20	OMIM:300908
2539	G6PD	HP:0011273	Anisocytosis	-	OMIM:300908
2542	SLC37A4	HP:0003774	Stage 5 chronic kidney disease	HP:0040284	ORPHA:79259
2542	SLC37A4	HP:0001114	Xanthelasma	-	OMIM:232220
2542	SLC37A4	HP:0001114	Xanthelasma	-	OMIM:232240
2542	SLC37A4	HP:0001114	Xanthelasma	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0410175	Hyperketonemia	-	OMIM:232240
2542	SLC37A4	HP:0410252	Persistently decreased total neutrophil count	HP:0040282	ORPHA:79259
2542	SLC37A4	HP:0001270	Motor delay	HP:0040282	ORPHA:79259
2542	SLC37A4	HP:0001252	Hypotonia	1/1	OMIM:619525
2542	SLC37A4	HP:0001263	Global developmental delay	HP:0040282	ORPHA:79259
2542	SLC37A4	HP:0010974	Abnormal myeloid leukocyte morphology	HP:0040282	ORPHA:79259
2542	SLC37A4	HP:0000083	Renal insufficiency	-	OMIM:232240
2542	SLC37A4	HP:0000097	Focal segmental glomerulosclerosis	-	OMIM:232220
2542	SLC37A4	HP:0000097	Focal segmental glomerulosclerosis	-	OMIM:232240
2542	SLC37A4	HP:0000093	Proteinuria	-	OMIM:232220
2542	SLC37A4	HP:0000093	Proteinuria	-	OMIM:232240
2542	SLC37A4	HP:0000093	Proteinuria	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:79259
2542	SLC37A4	HP:0001397	Hepatic steatosis	1/1	OMIM:619525
2542	SLC37A4	HP:0012028	Hepatocellular adenoma	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0000023	Inguinal hernia	1/1	OMIM:619525
2542	SLC37A4	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0000007	Autosomal recessive inheritance	-	OMIM:232220
2542	SLC37A4	HP:0000007	Autosomal recessive inheritance	-	OMIM:232240
2542	SLC37A4	HP:0000006	Autosomal dominant inheritance	-	OMIM:619525
2542	SLC37A4	HP:0002650	Scoliosis	4/8	OMIM:619525
2542	SLC37A4	HP:0031141	Increased hepatic echogenicity	1/1	OMIM:619525
2542	SLC37A4	HP:0012146	Abnormality of von Willebrand factor	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0000155	Oral ulcer	-	OMIM:232220
2542	SLC37A4	HP:0000155	Oral ulcer	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0000147	Polycystic ovaries	HP:0040282	ORPHA:79259
2542	SLC37A4	HP:0006280	Chronic pancreatitis	-	OMIM:232240
2542	SLC37A4	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0000132	Menorrhagia	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0002788	Recurrent upper respiratory tract infections	1/1	OMIM:232240
2542	SLC37A4	HP:0000105	Enlarged kidney	-	OMIM:232220
2542	SLC37A4	HP:0000105	Enlarged kidney	HP:0040282	ORPHA:79259
2542	SLC37A4	HP:0001408	Bile duct proliferation	1/1	OMIM:619525
2542	SLC37A4	HP:0001402	Hepatocellular carcinoma	-	OMIM:232220
2542	SLC37A4	HP:0001402	Hepatocellular carcinoma	HP:0040284	ORPHA:79259
2542	SLC37A4	HP:0001402	Hepatocellular carcinoma	-	OMIM:232240
2542	SLC37A4	HP:0002718	Recurrent bacterial infections	1/1	OMIM:232220
2542	SLC37A4	HP:0002718	Recurrent bacterial infections	HP:0040282	ORPHA:79259
2542	SLC37A4	HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes	0/1	OMIM:232240
2542	SLC37A4	HP:0002020	Gastroesophageal reflux	1/1	OMIM:619525
2542	SLC37A4	HP:0002037	Inflammation of the large intestine	1/1	OMIM:232220
2542	SLC37A4	HP:0002037	Inflammation of the large intestine	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0002037	Inflammation of the large intestine	1/1	OMIM:232240
2542	SLC37A4	HP:0002014	Diarrhea	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0002013	Vomiting	1/1	OMIM:619525
2542	SLC37A4	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0002092	Pulmonary arterial hypertension	-	OMIM:232240
2542	SLC37A4	HP:0030948	Elevated gamma-glutamyltransferase level	1/1	OMIM:619525
2542	SLC37A4	HP:0030950	Pulmonary venous hypertension	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0100512	Decreased circulating vitamin D concentration	HP:0040282	ORPHA:79259
2542	SLC37A4	HP:0040289	Cyclically decreased total neutrophil count	1/1	OMIM:232240
2542	SLC37A4	HP:0008169	Reduced factor VII activity	1/1	OMIM:619525
2542	SLC37A4	HP:0008151	Prolonged prothrombin time	2/2	OMIM:619525
2542	SLC37A4	HP:0002155	Hypertriglyceridemia	HP:0040281	ORPHA:79259
2542	SLC37A4	HP:0002149	Hyperuricemia	-	OMIM:232220
2542	SLC37A4	HP:0002149	Hyperuricemia	HP:0040281	ORPHA:79259
2542	SLC37A4	HP:0002149	Hyperuricemia	-	OMIM:232240
2542	SLC37A4	HP:6000201	Reduced hepatic glucose-6-phosphate translocase activity	2/2	OMIM:232220
2542	SLC37A4	HP:0011900	Hypofibrinogenemia	2/2	OMIM:619525
2542	SLC37A4	HP:0002173	Hypoglycemic seizures	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0011889	Bleeding with minor or no trauma	1/1	OMIM:619525
2542	SLC37A4	HP:0011890	Prolonged bleeding following procedure	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0011858	Reduced factor IX activity	4/6	OMIM:619525
2542	SLC37A4	HP:0003596	Middle age onset	1/7	OMIM:619525
2542	SLC37A4	HP:0003593	Infantile onset	1/1	OMIM:232220
2542	SLC37A4	HP:0003593	Infantile onset	3/8	OMIM:619525
2542	SLC37A4	HP:0003577	Congenital onset	1/1	OMIM:619525
2542	SLC37A4	HP:0002240	Hepatomegaly	1/1	OMIM:619525
2542	SLC37A4	HP:0002240	Hepatomegaly	1/1	OMIM:232220
2542	SLC37A4	HP:0002240	Hepatomegaly	1/1	OMIM:232240
2542	SLC37A4	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:79259
2542	SLC37A4	HP:0100732	Pancreatic fibrosis	1/1	OMIM:232220
2542	SLC37A4	HP:0008357	Reduced factor XIII activity	1/1	OMIM:619525
2542	SLC37A4	HP:0004841	Reduced factor XII activity	1/1	OMIM:619525
2542	SLC37A4	HP:0003645	Prolonged partial thromboplastin time	2/2	OMIM:619525
2542	SLC37A4	HP:0100651	Type I diabetes mellitus	1/1	OMIM:619525
2542	SLC37A4	HP:0100646	Thyroiditis	HP:0040282	ORPHA:79259
2542	SLC37A4	HP:0003623	Neonatal onset	1/1	OMIM:232240
2542	SLC37A4	HP:0003621	Juvenile onset	3/7	OMIM:619525
2542	SLC37A4	HP:0005576	Tubulointerstitial fibrosis	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0001976	Reduced antithrombin III activity	1/1	OMIM:619525
2542	SLC37A4	HP:0001943	Hypoglycemia	-	OMIM:232220
2542	SLC37A4	HP:0001943	Hypoglycemia	1/1	OMIM:232240
2542	SLC37A4	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:79259
2542	SLC37A4	HP:0001946	Ketosis	-	OMIM:232240
2542	SLC37A4	HP:0001942	Metabolic acidosis	-	OMIM:232240
2542	SLC37A4	HP:0001929	Reduced factor XI activity	6/6	OMIM:619525
2542	SLC37A4	HP:0001935	Microcytic anemia	1/1	OMIM:619525
2542	SLC37A4	HP:0001903	Anemia	1/1	OMIM:619525
2542	SLC37A4	HP:0001903	Anemia	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0000696	Delayed eruption of permanent teeth	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0000660	Lipemia retinalis	-	OMIM:232220
2542	SLC37A4	HP:0000670	Carious teeth	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0001997	Gout	-	OMIM:232220
2542	SLC37A4	HP:0001997	Gout	-	OMIM:232240
2542	SLC37A4	HP:0001997	Gout	HP:0040284	ORPHA:79259
2542	SLC37A4	HP:0004322	Short stature	-	OMIM:232220
2542	SLC37A4	HP:0004322	Short stature	HP:0040281	ORPHA:79259
2542	SLC37A4	HP:0031956	Elevated circulating aspartate aminotransferase concentration	8/8	OMIM:619525
2542	SLC37A4	HP:0031964	Elevated circulating alanine aminotransferase concentration	2/2	OMIM:619525
2542	SLC37A4	HP:0003077	Hyperlipidemia	-	OMIM:232220
2542	SLC37A4	HP:0003077	Hyperlipidemia	HP:0040281	ORPHA:79259
2542	SLC37A4	HP:0003077	Hyperlipidemia	-	OMIM:232240
2542	SLC37A4	HP:0004387	Enterocolitis	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0031936	Delayed ability to walk	1/1	OMIM:619525
2542	SLC37A4	HP:0000767	Pectus excavatum	1/1	OMIM:619525
2542	SLC37A4	HP:0000768	Pectus carinatum	1/1	OMIM:619525
2542	SLC37A4	HP:0000704	Periodontitis	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0011462	Young adult onset	1/7	OMIM:619525
2542	SLC37A4	HP:0000774	Narrow chest	1/1	OMIM:619525
2542	SLC37A4	HP:0000793	Membranoproliferative glomerulonephritis	1/1	OMIM:619525
2542	SLC37A4	HP:0000790	Hematuria	-	OMIM:232240
2542	SLC37A4	HP:0000787	Nephrolithiasis	-	OMIM:232220
2542	SLC37A4	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0003124	Hypercholesterolemia	HP:0040281	ORPHA:79259
2542	SLC37A4	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:619525
2542	SLC37A4	HP:0003128	Lactic acidosis	-	OMIM:232220
2542	SLC37A4	HP:0003128	Lactic acidosis	1/1	OMIM:232240
2542	SLC37A4	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:79259
2542	SLC37A4	HP:0000858	Irregular menstruation	HP:0040282	ORPHA:79259
2542	SLC37A4	HP:0000822	Hypertension	-	OMIM:232220
2542	SLC37A4	HP:0000822	Hypertension	-	OMIM:232240
2542	SLC37A4	HP:0000822	Hypertension	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0000823	Delayed puberty	-	OMIM:232220
2542	SLC37A4	HP:0000823	Delayed puberty	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0000823	Delayed puberty	-	OMIM:232240
2542	SLC37A4	HP:0010296	Ankyloglossia	2/8	OMIM:619525
2542	SLC37A4	HP:0010280	Stomatitis	1/1	OMIM:232240
2542	SLC37A4	HP:0003225	Reduced coagulation factor V activity	7/8	OMIM:619525
2542	SLC37A4	HP:0004502	Bilateral choanal atresia	1/1	OMIM:619525
2542	SLC37A4	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0000991	Xanthomatosis	-	OMIM:232220
2542	SLC37A4	HP:0000991	Xanthomatosis	-	OMIM:232240
2542	SLC37A4	HP:0100279	Ulcerative colitis	HP:0040282	ORPHA:79259
2542	SLC37A4	HP:0000939	Osteoporosis	-	OMIM:232220
2542	SLC37A4	HP:0000939	Osteoporosis	1/1	OMIM:619525
2542	SLC37A4	HP:0000939	Osteoporosis	HP:0040282	ORPHA:79259
2542	SLC37A4	HP:0000938	Osteopenia	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0000293	Full cheeks	HP:0040282	ORPHA:79259
2542	SLC37A4	HP:0000295	Doll-like facies	-	OMIM:232220
2542	SLC37A4	HP:0000275	Narrow face	1/1	OMIM:619525
2542	SLC37A4	HP:0012213	Decreased glomerular filtration rate	-	OMIM:232220
2542	SLC37A4	HP:0012213	Decreased glomerular filtration rate	-	OMIM:232240
2542	SLC37A4	HP:0002884	Hepatoblastoma	-	OMIM:232240
2542	SLC37A4	HP:0000230	Gingivitis	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0001538	Protuberant abdomen	-	OMIM:232220
2542	SLC37A4	HP:0001538	Protuberant abdomen	HP:0040281	ORPHA:79259
2542	SLC37A4	HP:0001508	Failure to thrive	1/1	OMIM:619525
2542	SLC37A4	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79259
2542	SLC37A4	HP:0001510	Growth delay	HP:0040281	ORPHA:79259
2542	SLC37A4	HP:0011069	Supernumerary tooth	1/1	OMIM:619525
2542	SLC37A4	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:79259
2542	SLC37A4	HP:0012358	Abnormal protein O-linked glycosylation	7/7	OMIM:619525
2542	SLC37A4	HP:0006579	Prolonged neonatal jaundice	1/1	OMIM:619525
2542	SLC37A4	HP:0006568	Increased hepatic glycogen content	HP:0040281	ORPHA:79259
2542	SLC37A4	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:232220
2542	SLC37A4	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:619525
2542	SLC37A4	HP:0002907	Microscopic hematuria	1/1	OMIM:619525
2542	SLC37A4	HP:0012347	Abnormal protein N-linked glycosylation	7/7	OMIM:619525
2542	SLC37A4	HP:0000369	Low-set ears	1/1	OMIM:619525
2542	SLC37A4	HP:0000347	Micrognathia	1/1	OMIM:619525
2542	SLC37A4	HP:0012301	Type II transferrin isoform profile	9/9	OMIM:619525
2542	SLC37A4	HP:0000316	Hypertelorism	1/1	OMIM:619525
2542	SLC37A4	HP:0000311	Round face	HP:0040282	ORPHA:79259
2542	SLC37A4	HP:0000324	Facial asymmetry	1/1	OMIM:619525
2542	SLC37A4	HP:0001629	Ventricular septal defect	2/7	OMIM:619525
2542	SLC37A4	HP:0001636	Tetralogy of Fallot	1/7	OMIM:619525
2542	SLC37A4	HP:0000307	Pointed chin	1/1	OMIM:619525
2542	SLC37A4	HP:0000403	Recurrent otitis media	1/1	OMIM:619525
2542	SLC37A4	HP:0001733	Pancreatitis	-	OMIM:232220
2542	SLC37A4	HP:0001733	Pancreatitis	HP:0040282	ORPHA:79259
2542	SLC37A4	HP:0000486	Strabismus	1/1	OMIM:619525
2542	SLC37A4	HP:0011120	Concave nasal ridge	1/1	OMIM:619525
2542	SLC37A4	HP:0001763	Pes planus	1/1	OMIM:619525
2542	SLC37A4	HP:0000445	Wide nose	1/1	OMIM:619525
2542	SLC37A4	HP:0001744	Splenomegaly	1/1	OMIM:619525
2542	SLC37A4	HP:0001744	Splenomegaly	1/1	OMIM:232220
2542	SLC37A4	HP:0000430	Underdeveloped nasal alae	1/1	OMIM:619525
2542	SLC37A4	HP:0000421	Epistaxis	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0012594	Moderate albuminuria	1/1	OMIM:619525
2542	SLC37A4	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:79259
2542	SLC37A4	HP:0012522	Spider hemangioma	-	OMIM:232240
2542	SLC37A4	HP:0001873	Thrombocytopenia	1/1	OMIM:619525
2542	SLC37A4	HP:0001875	Decreased total neutrophil count	34/34	OMIM:232220
2548	GAA	HP:0033567	Right axis deviation	1/1	OMIM:232300
2548	GAA	HP:0003725	Firm muscles	-	OMIM:232300
2548	GAA	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:308552
2548	GAA	HP:0003701	Proximal muscle weakness	-	OMIM:232300
2548	GAA	HP:0032232	Increased circulating creatine kinase MB isoform	1/1	OMIM:232300
2548	GAA	HP:0001270	Motor delay	HP:0040282	ORPHA:308552
2548	GAA	HP:0001288	Gait disturbance	1/1	OMIM:232300
2548	GAA	HP:0001284	Areflexia	HP:0040282	ORPHA:308552
2548	GAA	HP:0001284	Areflexia	-	OMIM:232300
2548	GAA	HP:0001252	Hypotonia	-	OMIM:232300
2548	GAA	HP:0001249	Intellectual disability	HP:0040283	ORPHA:308552
2548	GAA	HP:0001265	Hyporeflexia	1/1	OMIM:232300
2548	GAA	HP:0025336	Delayed ability to sit	HP:0040281	ORPHA:308552
2548	GAA	HP:0025335	Delayed ability to stand	HP:0040281	ORPHA:308552
2548	GAA	HP:0000020	Urinary incontinence	1/1	OMIM:232300
2548	GAA	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:308552
2548	GAA	HP:0031185	Increased circulating NT-proBNP concentration	1/1	OMIM:232300
2548	GAA	HP:0001324	Muscle weakness	HP:0040281	ORPHA:308552
2548	GAA	HP:0001324	Muscle weakness	1/1	OMIM:232300
2548	GAA	HP:0000007	Autosomal recessive inheritance	-	OMIM:232300
2548	GAA	HP:0000183	Tongue muscle weakness	HP:0040282	ORPHA:308552
2548	GAA	HP:0000158	Macroglossia	-	OMIM:232300
2548	GAA	HP:0000158	Macroglossia	HP:0040282	ORPHA:308552
2548	GAA	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:232300
2548	GAA	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040281	ORPHA:308552
2548	GAA	HP:0008947	Floppy infant	HP:0040281	ORPHA:308552
2548	GAA	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:232300
2548	GAA	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:308552
2548	GAA	HP:0040329	Multifocal hyperintensity of cerebral white matter on MRI	HP:0040281	ORPHA:308552
2548	GAA	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:308552
2548	GAA	HP:0002098	Respiratory distress	HP:0040282	ORPHA:308552
2548	GAA	HP:0002094	Dyspnea	1/1	OMIM:232300
2548	GAA	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:308552
2548	GAA	HP:0002093	Respiratory insufficiency	-	OMIM:232300
2548	GAA	HP:0011703	Sinus tachycardia	1/1	OMIM:232300
2548	GAA	HP:0010471	Oligosacchariduria	HP:0040281	ORPHA:308552
2548	GAA	HP:0002138	Subarachnoid hemorrhage	1/1	OMIM:232300
2548	GAA	HP:0033235	Difficulty descending stairs	1/1	OMIM:232300
2548	GAA	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:308552
2548	GAA	HP:0002240	Hepatomegaly	-	OMIM:232300
2548	GAA	HP:0003551	Difficulty climbing stairs	1/1	OMIM:232300
2548	GAA	HP:0003546	Exercise intolerance	1/1	OMIM:232300
2548	GAA	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040282	ORPHA:308552
2548	GAA	HP:0002202	Pleural effusion	1/1	OMIM:232300
2548	GAA	HP:0002205	Recurrent respiratory infections	-	OMIM:232300
2548	GAA	HP:0032092	Left ventricular outflow tract obstruction	HP:0040281	ORPHA:308552
2548	GAA	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:308552
2548	GAA	HP:0003690	Limb muscle weakness	1/1	OMIM:232300
2548	GAA	HP:0009805	Low-output congestive heart failure	HP:0040282	ORPHA:308552
2548	GAA	HP:0004944	Dilatation of the cerebral artery	-	OMIM:232300
2548	GAA	HP:6001008	Elevated urine glucose tetrasaccharide level	-	OMIM:232300
2548	GAA	HP:0001945	Fever	-	OMIM:232300
2548	GAA	HP:0009051	Increased muscle glycogen content	1/1	OMIM:232300
2548	GAA	HP:0031964	Elevated circulating alanine aminotransferase concentration	HP:0040281	ORPHA:308552
2548	GAA	HP:0011400	Abnormal CNS myelination	-	OMIM:232300
2548	GAA	HP:0011462	Young adult onset	1/1	OMIM:232300
2548	GAA	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:308552
2548	GAA	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:232300
2548	GAA	HP:6000088	Reduced muscle alpha-1,4-glucosidase activity	-	OMIM:232300
2548	GAA	HP:0000297	Facial hypotonia	HP:0040282	ORPHA:308552
2548	GAA	HP:0002878	Respiratory failure	HP:0040282	ORPHA:308552
2548	GAA	HP:0001508	Failure to thrive	HP:0040281	ORPHA:308552
2548	GAA	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:308552
2548	GAA	HP:0006597	Diaphragmatic paralysis	-	OMIM:232300
2548	GAA	HP:0005165	Shortened PR interval	-	OMIM:232300
2548	GAA	HP:0005165	Shortened PR interval	HP:0040282	ORPHA:308552
2548	GAA	HP:0000365	Hearing impairment	HP:0040283	ORPHA:308552
2548	GAA	HP:0000365	Hearing impairment	-	OMIM:232300
2548	GAA	HP:0030148	Heart murmur	HP:0040282	ORPHA:308552
2548	GAA	HP:0001640	Cardiomegaly	-	OMIM:232300
2548	GAA	HP:0001640	Cardiomegaly	HP:0040281	ORPHA:308552
2548	GAA	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:308552
2548	GAA	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:232300
2548	GAA	HP:0001712	Left ventricular hypertrophy	HP:0040281	ORPHA:308552
2548	GAA	HP:0001790	Nonimmune hydrops fetalis	11/11	OMIM:232300
2548	GAA	HP:0001744	Splenomegaly	-	OMIM:232300
2549	GAB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:605428
2549	GAB1	HP:0000407	Sensorineural hearing impairment	-	OMIM:605428
2550	GABBR1	HP:0001270	Motor delay	3/4	OMIM:620502
2550	GABBR1	HP:0001250	Seizure	1/4	OMIM:620502
2550	GABBR1	HP:0001252	Hypotonia	2/4	OMIM:620502
2550	GABBR1	HP:0001249	Intellectual disability	2/3	OMIM:620502
2550	GABBR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620502
2550	GABBR1	HP:0002650	Scoliosis	1/4	OMIM:620502
2550	GABBR1	HP:0003593	Infantile onset	4/4	OMIM:620502
2550	GABBR1	HP:0008404	Nail dystrophy	1/4	OMIM:620502
2550	GABBR1	HP:0007018	Attention deficit hyperactivity disorder	2/4	OMIM:620502
2550	GABBR1	HP:0002360	Sleep abnormality	2/4	OMIM:620502
2550	GABBR1	HP:0004209	Clinodactyly of the 5th finger	1/4	OMIM:620502
2550	GABBR1	HP:0000639	Nystagmus	1/4	OMIM:620502
2550	GABBR1	HP:0000609	Optic nerve hypoplasia	1/4	OMIM:620502
2550	GABBR1	HP:0000733	Motor stereotypy	2/4	OMIM:620502
2550	GABBR1	HP:0000750	Delayed speech and language development	4/4	OMIM:620502
2550	GABBR1	HP:0000729	Autistic behavior	1/4	OMIM:620502
2550	GABBR1	HP:0000958	Dry skin	1/4	OMIM:620502
2550	GABBR1	HP:0040183	Encopresis	1/4	OMIM:620502
2550	GABBR1	HP:0000343	Long philtrum	1/4	OMIM:620502
2550	GABBR1	HP:0012427	Increased femoral anteversion	1/4	OMIM:620502
2550	GABBR1	HP:0000431	Wide nasal bridge	1/4	OMIM:620502
2554	GABRA1	HP:0025101	Dysgenesis of the hippocampus	HP:0040283	ORPHA:33069
2554	GABRA1	HP:0007270	Atypical absence seizure	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0007240	Progressive gait ataxia	HP:0040281	ORPHA:33069
2554	GABRA1	HP:0010852	EEG with photoparoxysmal response	1/4	OMIM:615744
2554	GABRA1	HP:0010850	EEG with spike-wave complexes	2/4	OMIM:615744
2554	GABRA1	HP:0001249	Intellectual disability	-	ORPHA:307
2554	GABRA1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:64280
2554	GABRA1	HP:0001249	Intellectual disability	3/3	OMIM:615744
2554	GABRA1	HP:0001263	Global developmental delay	4/4	OMIM:615744
2554	GABRA1	HP:0008770	Obsessive-compulsive trait	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0007359	Focal-onset seizure	HP:0040281	ORPHA:33069
2554	GABRA1	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:64280
2554	GABRA1	HP:0001328	Specific learning disability	HP:0040283	ORPHA:64280
2554	GABRA1	HP:0001327	Photosensitive myoclonic seizure	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615744
2554	GABRA1	HP:0001336	Myoclonus	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0001300	Parkinsonism	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0000153	Abnormality of the mouth	HP:0040282	ORPHA:307
2554	GABRA1	HP:0008947	Floppy infant	HP:0040283	ORPHA:33069
2554	GABRA1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:64280
2554	GABRA1	HP:0002067	Bradykinesia	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0002063	Rigidity	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:307
2554	GABRA1	HP:0002121	Generalized non-motor (absence) seizure	3/4	OMIM:615744
2554	GABRA1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:307
2554	GABRA1	HP:0002133	Status epilepticus	3/4	OMIM:615744
2554	GABRA1	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:307
2554	GABRA1	HP:0010522	Dyslexia	HP:0040283	ORPHA:64280
2554	GABRA1	HP:0003593	Infantile onset	4/4	OMIM:615744
2554	GABRA1	HP:0100710	Impulsivity	HP:0040283	ORPHA:33069
2554	GABRA1	HP:0200134	Epileptic encephalopathy	-	OMIM:615744
2554	GABRA1	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:33069
2554	GABRA1	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:33069
2554	GABRA1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:64280
2554	GABRA1	HP:0007000	Morning myoclonic jerks	HP:0040281	ORPHA:307
2554	GABRA1	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0002384	Focal impaired awareness seizure	4/4	OMIM:615744
2554	GABRA1	HP:0002396	Cogwheel rigidity	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0002392	EEG with polyspike wave complexes	HP:0040281	ORPHA:307
2554	GABRA1	HP:0002376	Developmental regression	HP:0040281	ORPHA:33069
2554	GABRA1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:64280
2554	GABRA1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:307
2554	GABRA1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	4/4	OMIM:615744
2554	GABRA1	HP:0002345	Action tremor	HP:0040283	ORPHA:33069
2554	GABRA1	HP:0002349	Focal aware seizure	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	HP:0040281	ORPHA:64280
2554	GABRA1	HP:0010841	Multifocal epileptiform discharges	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0007207	Photosensitive tonic-clonic seizure	HP:0040283	ORPHA:307
2554	GABRA1	HP:0007207	Photosensitive tonic-clonic seizure	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0010819	Atonic seizure	2/4	OMIM:615744
2554	GABRA1	HP:0010818	Generalized tonic seizure	HP:0040284	ORPHA:33069
2554	GABRA1	HP:0200048	Cyanotic episode	HP:0040283	ORPHA:33069
2554	GABRA1	HP:0010794	Impaired visuospatial constructive cognition	HP:0040283	ORPHA:64280
2554	GABRA1	HP:0100694	Tibial torsion	HP:0040283	ORPHA:33069
2554	GABRA1	HP:0002311	Incoordination	HP:0040283	ORPHA:33069
2554	GABRA1	HP:0002307	Drooling	HP:0040283	ORPHA:33069
2554	GABRA1	HP:0006813	Focal hemiclonic seizure	4/4	OMIM:615744
2554	GABRA1	HP:0006813	Focal hemiclonic seizure	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0006961	Jerky head movements	HP:0040284	ORPHA:64280
2554	GABRA1	HP:0003066	Limited knee extension	HP:0040283	ORPHA:33069
2554	GABRA1	HP:0000739	Anxiety	HP:0040283	ORPHA:64280
2554	GABRA1	HP:0000739	Anxiety	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0000736	Short attention span	HP:0040283	ORPHA:33069
2554	GABRA1	HP:0000716	Depression	HP:0040283	ORPHA:64280
2554	GABRA1	HP:0000718	Aggressive behavior	HP:0040284	ORPHA:307
2554	GABRA1	HP:0000729	Autistic behavior	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0011468	Facial tics	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0012847	Epilepsia partialis continua	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0045084	Limb myoclonus	HP:0040284	ORPHA:64280
2554	GABRA1	HP:0000980	Pallor	HP:0040282	ORPHA:64280
2554	GABRA1	HP:0000980	Pallor	HP:0040283	ORPHA:33069
2554	GABRA1	HP:0008081	Pes valgus	HP:0040283	ORPHA:33069
2554	GABRA1	HP:0007738	Uncontrolled eye movements	HP:0040283	ORPHA:64280
2554	GABRA1	HP:0002883	Hyperventilation	HP:0040283	ORPHA:64280
2554	GABRA1	HP:0032794	Myoclonic seizure	2/4	OMIM:615744
2554	GABRA1	HP:0031469	Low self-esteem	HP:0040283	ORPHA:64280
2554	GABRA1	HP:0031475	Status epilepticus without prominent motor symptoms	HP:0040283	ORPHA:33069
2554	GABRA1	HP:0011198	EEG with generalized epileptiform discharges	HP:0040283	ORPHA:33069
2554	GABRA1	HP:0011185	EEG with focal epileptiform discharges	HP:0040283	ORPHA:33069
2554	GABRA1	HP:0011182	Interictal epileptiform activity	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0011169	Generalized clonic seizure	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0011172	Complex febrile seizure	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0011147	Typical absence seizure	HP:0040281	ORPHA:64280
2554	GABRA1	HP:0011150	Myoclonic absence seizure	HP:0040283	ORPHA:64280
2554	GABRA1	HP:0030218	Punding	HP:0040283	ORPHA:64280
2554	GABRA1	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:307
2554	GABRA1	HP:0012433	Abnormal social behavior	HP:0040283	ORPHA:64280
2554	GABRA1	HP:0000466	Limited neck range of motion	HP:0040282	ORPHA:33069
2554	GABRA1	HP:0001763	Pes planus	HP:0040283	ORPHA:33069
2555	GABRA2	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
2555	GABRA2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
2555	GABRA2	HP:0001290	Generalized hypotonia	-	OMIM:618557
2555	GABRA2	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0001250	Seizure	HP:0040282	ORPHA:442835
2555	GABRA2	HP:0001250	Seizure	5/5	OMIM:618557
2555	GABRA2	HP:0001252	Hypotonia	3/5	OMIM:618557
2555	GABRA2	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
2555	GABRA2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
2555	GABRA2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
2555	GABRA2	HP:0001263	Global developmental delay	5/5	OMIM:618557
2555	GABRA2	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0001257	Spasticity	-	OMIM:618557
2555	GABRA2	HP:0002540	Inability to walk	-	OMIM:618557
2555	GABRA2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
2555	GABRA2	HP:0001337	Tremor	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618557
2555	GABRA2	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0001319	Neonatal hypotonia	1/1	OMIM:618557
2555	GABRA2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0001426	Non-Mendelian inheritance	-	OMIM:103780
2555	GABRA2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0002072	Chorea	1/1	OMIM:618557
2555	GABRA2	HP:0002045	Hypothermia	1/1	OMIM:618557
2555	GABRA2	HP:0030955	Addictive alcohol use	-	OMIM:103780
2555	GABRA2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
2555	GABRA2	HP:0002133	Status epilepticus	3/5	OMIM:618557
2555	GABRA2	HP:0003429	CNS hypomyelination	-	OMIM:618557
2555	GABRA2	HP:0100704	Cerebral visual impairment	-	OMIM:618557
2555	GABRA2	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
2555	GABRA2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
2555	GABRA2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
2555	GABRA2	HP:0011344	Severe global developmental delay	1/1	OMIM:618557
2555	GABRA2	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0004322	Short stature	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0100021	Cerebral palsy	-	OMIM:618557
2555	GABRA2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
2555	GABRA2	HP:0000717	Autism	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0000729	Autistic behavior	2/4	OMIM:618557
2555	GABRA2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
2555	GABRA2	HP:0000817	Reduced eye contact	1/1	OMIM:618557
2555	GABRA2	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0000252	Microcephaly	11/15	OMIM:618557
2555	GABRA2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
2555	GABRA2	HP:0000348	High forehead	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
2555	GABRA2	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
2555	GABRA2	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
2555	GABRA2	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
2556	GABRA3	HP:0002486	Myotonia	-	ORPHA:79102
2556	GABRA3	HP:0002445	Tetraplegia	HP:0040281	ORPHA:79102
2556	GABRA3	HP:0003752	Episodic flaccid weakness	HP:0040281	ORPHA:79102
2556	GABRA3	HP:0100807	Long fingers	2/15	OMIM:301091
2556	GABRA3	HP:0001249	Intellectual disability	16/25	OMIM:301091
2556	GABRA3	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:79102
2556	GABRA3	HP:0001263	Global developmental delay	2/25	OMIM:301091
2556	GABRA3	HP:0007340	Lower limb muscle weakness	HP:0040281	ORPHA:79102
2556	GABRA3	HP:0000016	Urinary retention	HP:0040282	ORPHA:79102
2556	GABRA3	HP:0001337	Tremor	HP:0040282	ORPHA:79102
2556	GABRA3	HP:0000160	Narrow mouth	5/15	OMIM:301091
2556	GABRA3	HP:0000175	Cleft palate	3/15	OMIM:301091
2556	GABRA3	HP:0001417	X-linked inheritance	-	OMIM:301091
2556	GABRA3	HP:0002019	Constipation	HP:0040282	ORPHA:79102
2556	GABRA3	HP:0002069	Bilateral tonic-clonic seizure	8/22	OMIM:301091
2556	GABRA3	HP:0003394	Muscle spasm	HP:0040282	ORPHA:79102
2556	GABRA3	HP:0011706	Second degree atrioventricular block	HP:0040283	ORPHA:79102
2556	GABRA3	HP:0008180	Mildly elevated creatine kinase	HP:0040281	ORPHA:79102
2556	GABRA3	HP:0008153	Periodic hypokalemic paresis	HP:0040280	ORPHA:79102
2556	GABRA3	HP:0011784	Thyrotoxicosis with diffuse goiter	HP:0040281	ORPHA:79102
2556	GABRA3	HP:0011785	Thyrotoxicosis with toxic multinodular goiter	HP:0040281	ORPHA:79102
2556	GABRA3	HP:0011786	Thyrotoxicosis with toxic single thyroid nodule	HP:0040281	ORPHA:79102
2556	GABRA3	HP:0003470	Paralysis	HP:0040281	ORPHA:79102
2556	GABRA3	HP:0002153	Hyperkalemia	HP:0040284	ORPHA:79102
2556	GABRA3	HP:0002121	Generalized non-motor (absence) seizure	4/22	OMIM:301091
2556	GABRA3	HP:0003457	EMG abnormality	HP:0040281	ORPHA:79102
2556	GABRA3	HP:0008285	Transient hypophosphatemia	HP:0040281	ORPHA:79102
2556	GABRA3	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:79102
2556	GABRA3	HP:0002203	Respiratory paralysis	HP:0040284	ORPHA:79102
2556	GABRA3	HP:0011998	Postprandial hyperglycemia	HP:0040282	ORPHA:79102
2556	GABRA3	HP:0002384	Focal impaired awareness seizure	2/22	OMIM:301091
2556	GABRA3	HP:0003694	Late-onset proximal muscle weakness	HP:0040283	ORPHA:79102
2556	GABRA3	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/22	OMIM:301091
2556	GABRA3	HP:0100647	Graves disease	HP:0040281	ORPHA:79102
2556	GABRA3	HP:0200021	Down-sloping shoulders	4/15	OMIM:301091
2556	GABRA3	HP:0003621	Juvenile onset	4/14	OMIM:301091
2556	GABRA3	HP:0000639	Nystagmus	6/15	OMIM:301091
2556	GABRA3	HP:0001962	Palpitations	HP:0040281	ORPHA:79102
2556	GABRA3	HP:0009020	Exercise-induced muscle fatigue	HP:0040282	ORPHA:79102
2556	GABRA3	HP:0000664	Synophrys	1/15	OMIM:301091
2556	GABRA3	HP:0004303	Abnormal muscle fiber morphology	HP:0040281	ORPHA:79102
2556	GABRA3	HP:0012726	Episodic hypokalemia	HP:0040280	ORPHA:79102
2556	GABRA3	HP:0011463	Childhood onset	7/14	OMIM:301091
2556	GABRA3	HP:0011462	Young adult onset	3/14	OMIM:301091
2556	GABRA3	HP:0005709	2-3 toe cutaneous syndactyly	1/15	OMIM:301091
2556	GABRA3	HP:0003189	Long nose	1/15	OMIM:301091
2556	GABRA3	HP:0003134	Abnormality of peripheral nerve conduction	-	ORPHA:79102
2556	GABRA3	HP:0000836	Hyperthyroidism	HP:0040280	ORPHA:79102
2556	GABRA3	HP:0003201	Rhabdomyolysis	HP:0040282	ORPHA:79102
2556	GABRA3	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:79102
2556	GABRA3	HP:0045025	Narrow palpebral fissure	1/15	OMIM:301091
2556	GABRA3	HP:0000278	Retrognathia	2/15	OMIM:301091
2556	GABRA3	HP:0012240	Increased intramyocellular lipid droplets	HP:0040281	ORPHA:79102
2556	GABRA3	HP:0000218	High palate	3/15	OMIM:301091
2556	GABRA3	HP:0001513	Obesity	HP:0040281	ORPHA:79102
2556	GABRA3	HP:0011097	Epileptic spasm	2/22	OMIM:301091
2556	GABRA3	HP:0012364	Decreased urinary potassium	HP:0040281	ORPHA:79102
2556	GABRA3	HP:0002917	Hypomagnesemia	HP:0040281	ORPHA:79102
2556	GABRA3	HP:0005165	Shortened PR interval	HP:0040283	ORPHA:79102
2556	GABRA3	HP:0000369	Low-set ears	3/30	OMIM:301091
2556	GABRA3	HP:0032792	Tonic seizure	1/22	OMIM:301091
2556	GABRA3	HP:0000347	Micrognathia	8/15	OMIM:301091
2556	GABRA3	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:79102
2556	GABRA3	HP:0001657	Prolonged QT interval	HP:0040283	ORPHA:79102
2556	GABRA3	HP:0006670	Impaired myocardial contractility	-	ORPHA:79102
2556	GABRA3	HP:0000472	Long neck	1/15	OMIM:301091
2556	GABRA3	HP:0000470	Short neck	2/15	OMIM:301091
2556	GABRA3	HP:0000411	Protruding ear	1/15	OMIM:301091
2556	GABRA3	HP:0001824	Weight loss	HP:0040282	ORPHA:79102
2556	GABRA3	HP:0000597	Ophthalmoparesis	HP:0040284	ORPHA:79102
2558	GABRA5	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1/1	OMIM:618559
2558	GABRA5	HP:0010864	Intellectual disability, severe	2/2	OMIM:618559
2558	GABRA5	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
2558	GABRA5	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
2558	GABRA5	HP:0001290	Generalized hypotonia	1/1	OMIM:618559
2558	GABRA5	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0001270	Motor delay	2/2	OMIM:618559
2558	GABRA5	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0001250	Seizure	HP:0040282	ORPHA:442835
2558	GABRA5	HP:0001250	Seizure	2/2	OMIM:618559
2558	GABRA5	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
2558	GABRA5	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
2558	GABRA5	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
2558	GABRA5	HP:0001263	Global developmental delay	2/2	OMIM:618559
2558	GABRA5	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0001257	Spasticity	1/1	OMIM:618559
2558	GABRA5	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
2558	GABRA5	HP:0001337	Tremor	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0000006	Autosomal dominant inheritance	-	OMIM:618559
2558	GABRA5	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:618559
2558	GABRA5	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0002120	Cerebral cortical atrophy	1/2	OMIM:618559
2558	GABRA5	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
2558	GABRA5	HP:0002133	Status epilepticus	1/2	OMIM:618559
2558	GABRA5	HP:0003429	CNS hypomyelination	1/1	OMIM:618559
2558	GABRA5	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
2558	GABRA5	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
2558	GABRA5	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0006892	Frontotemporal cerebral atrophy	1/2	OMIM:618559
2558	GABRA5	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
2558	GABRA5	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0004322	Short stature	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
2558	GABRA5	HP:0000717	Autism	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0000717	Autism	1/1	OMIM:618559
2558	GABRA5	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
2558	GABRA5	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
2558	GABRA5	HP:0032786	Migrating focal seizure	1/1	OMIM:618559
2558	GABRA5	HP:0032792	Tonic seizure	1/1	OMIM:618559
2558	GABRA5	HP:0000348	High forehead	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0032794	Myoclonic seizure	1/1	OMIM:618559
2558	GABRA5	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0005484	Secondary microcephaly	1/1	OMIM:618559
2558	GABRA5	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
2558	GABRA5	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
2558	GABRA5	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
2558	GABRA5	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
2560	GABRB1	HP:0001250	Seizure	1/1	OMIM:617153
2560	GABRB1	HP:0001252	Hypotonia	1/1	OMIM:617153
2560	GABRB1	HP:0001251	Ataxia	1/1	OMIM:617153
2560	GABRB1	HP:0001263	Global developmental delay	1/1	OMIM:617153
2560	GABRB1	HP:0002521	Hypsarrhythmia	1/1	OMIM:617153
2560	GABRB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617153
2560	GABRB1	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:617153
2560	GABRB1	HP:0003593	Infantile onset	1/1	OMIM:617153
2560	GABRB1	HP:0100704	Cerebral visual impairment	1/1	OMIM:617153
2560	GABRB1	HP:0200134	Epileptic encephalopathy	1/1	OMIM:617153
2560	GABRB1	HP:0002376	Developmental regression	1/1	OMIM:617153
2561	GABRB2	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
2561	GABRB2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
2561	GABRB2	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0001288	Gait disturbance	-	OMIM:617829
2561	GABRB2	HP:0001254	Lethargy	-	OMIM:617829
2561	GABRB2	HP:0001250	Seizure	11/11	OMIM:617829
2561	GABRB2	HP:0001250	Seizure	HP:0040282	ORPHA:442835
2561	GABRB2	HP:0001251	Ataxia	-	OMIM:617829
2561	GABRB2	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0001249	Intellectual disability	-	OMIM:617829
2561	GABRB2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
2561	GABRB2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
2561	GABRB2	HP:0001263	Global developmental delay	10/11	OMIM:617829
2561	GABRB2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
2561	GABRB2	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0001257	Spasticity	-	OMIM:617829
2561	GABRB2	HP:0002540	Inability to walk	HP:0040284	OMIM:617829
2561	GABRB2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0003828	Variable expressivity	-	OMIM:617829
2561	GABRB2	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
2561	GABRB2	HP:0001332	Dystonia	-	OMIM:617829
2561	GABRB2	HP:0001344	Absent speech	-	OMIM:617829
2561	GABRB2	HP:0001337	Tremor	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617829
2561	GABRB2	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0001336	Myoclonus	-	OMIM:617829
2561	GABRB2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
2561	GABRB2	HP:0100704	Cerebral visual impairment	-	OMIM:617829
2561	GABRB2	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0200134	Epileptic encephalopathy	11/11	OMIM:617829
2561	GABRB2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0011968	Feeding difficulties	-	OMIM:617829
2561	GABRB2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
2561	GABRB2	HP:0002353	EEG abnormality	-	OMIM:617829
2561	GABRB2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
2561	GABRB2	HP:0100660	Dyskinesia	-	OMIM:617829
2561	GABRB2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
2561	GABRB2	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0004322	Short stature	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
2561	GABRB2	HP:0000717	Autism	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
2561	GABRB2	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
2561	GABRB2	HP:0000348	High forehead	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0005484	Secondary microcephaly	6/11	OMIM:617829
2561	GABRB2	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
2561	GABRB2	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
2561	GABRB2	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
2561	GABRB2	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
2562	GABRB3	HP:0007270	Atypical absence seizure	2/4	OMIM:617113
2562	GABRB3	HP:0007270	Atypical absence seizure	HP:0040282	ORPHA:2382
2562	GABRB3	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2382
2562	GABRB3	HP:0001290	Generalized hypotonia	-	OMIM:617113
2562	GABRB3	HP:0001268	Mental deterioration	HP:0040282	ORPHA:2382
2562	GABRB3	HP:0001251	Ataxia	-	OMIM:617113
2562	GABRB3	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2382
2562	GABRB3	HP:0001249	Intellectual disability	HP:0040283	ORPHA:64280
2562	GABRB3	HP:0001249	Intellectual disability	-	OMIM:617113
2562	GABRB3	HP:0001263	Global developmental delay	3/4	OMIM:617113
2562	GABRB3	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:2382
2562	GABRB3	HP:0002521	Hypsarrhythmia	1/4	OMIM:617113
2562	GABRB3	HP:0002527	Falls	HP:0040282	ORPHA:2382
2562	GABRB3	HP:0003829	Typified by incomplete penetrance	-	OMIM:612269
2562	GABRB3	HP:0012075	Personality disorder	HP:0040282	ORPHA:2382
2562	GABRB3	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:64280
2562	GABRB3	HP:0001328	Specific learning disability	HP:0040283	ORPHA:64280
2562	GABRB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:617113
2562	GABRB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:612269
2562	GABRB3	HP:0001336	Myoclonus	HP:0040282	ORPHA:2382
2562	GABRB3	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:64280
2562	GABRB3	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:2382
2562	GABRB3	HP:0002069	Bilateral tonic-clonic seizure	3/4	OMIM:617113
2562	GABRB3	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:2382
2562	GABRB3	HP:0002121	Generalized non-motor (absence) seizure	-	OMIM:612269
2562	GABRB3	HP:0010522	Dyslexia	HP:0040283	ORPHA:64280
2562	GABRB3	HP:0003593	Infantile onset	4/4	OMIM:617113
2562	GABRB3	HP:0100710	Impulsivity	2/4	OMIM:617113
2562	GABRB3	HP:0200134	Epileptic encephalopathy	-	OMIM:617113
2562	GABRB3	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:64280
2562	GABRB3	HP:0007018	Attention deficit hyperactivity disorder	2/4	OMIM:617113
2562	GABRB3	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:2382
2562	GABRB3	HP:0002360	Sleep abnormality	1/4	OMIM:617113
2562	GABRB3	HP:0002376	Developmental regression	HP:0040283	ORPHA:2382
2562	GABRB3	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:64280
2562	GABRB3	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2382
2562	GABRB3	HP:0002321	Vertigo	HP:0040283	ORPHA:2382
2562	GABRB3	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	HP:0040281	ORPHA:64280
2562	GABRB3	HP:0100660	Dyskinesia	-	OMIM:617113
2562	GABRB3	HP:0010819	Atonic seizure	2/4	OMIM:617113
2562	GABRB3	HP:0010819	Atonic seizure	HP:0040282	ORPHA:2382
2562	GABRB3	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:2382
2562	GABRB3	HP:0010794	Impaired visuospatial constructive cognition	HP:0040283	ORPHA:64280
2562	GABRB3	HP:0006961	Jerky head movements	HP:0040284	ORPHA:64280
2562	GABRB3	HP:0000752	Hyperactivity	HP:0040282	ORPHA:2382
2562	GABRB3	HP:0000752	Hyperactivity	-	OMIM:617113
2562	GABRB3	HP:0000737	Irritability	HP:0040282	ORPHA:2382
2562	GABRB3	HP:0000739	Anxiety	HP:0040283	ORPHA:64280
2562	GABRB3	HP:0000741	Apathy	HP:0040283	ORPHA:2382
2562	GABRB3	HP:0000716	Depression	HP:0040283	ORPHA:64280
2562	GABRB3	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:2382
2562	GABRB3	HP:0000729	Autistic behavior	HP:0040282	ORPHA:2382
2562	GABRB3	HP:0000709	Psychosis	HP:0040283	ORPHA:2382
2562	GABRB3	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2382
2562	GABRB3	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:2382
2562	GABRB3	HP:0045084	Limb myoclonus	HP:0040284	ORPHA:64280
2562	GABRB3	HP:0000980	Pallor	HP:0040282	ORPHA:64280
2562	GABRB3	HP:0007738	Uncontrolled eye movements	HP:0040283	ORPHA:64280
2562	GABRB3	HP:0002883	Hyperventilation	HP:0040283	ORPHA:64280
2562	GABRB3	HP:0032794	Myoclonic seizure	2/4	OMIM:617113
2562	GABRB3	HP:0031469	Low self-esteem	HP:0040283	ORPHA:64280
2562	GABRB3	HP:0011195	EEG with focal sharp slow waves	HP:0040281	ORPHA:2382
2562	GABRB3	HP:0011147	Typical absence seizure	HP:0040281	ORPHA:64280
2562	GABRB3	HP:0011150	Myoclonic absence seizure	HP:0040283	ORPHA:64280
2562	GABRB3	HP:0030218	Punding	HP:0040283	ORPHA:64280
2562	GABRB3	HP:0012469	Infantile spasms	3/4	OMIM:617113
2562	GABRB3	HP:0012433	Abnormal social behavior	HP:0040283	ORPHA:64280
2563	GABRD	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1606
2563	GABRD	HP:0002465	Poor speech	HP:0040281	ORPHA:1606
2563	GABRD	HP:0001107	Ocular albinism	HP:0040283	ORPHA:1606
2563	GABRD	HP:0008551	Microtia	HP:0040283	ORPHA:1606
2563	GABRD	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:36387
2563	GABRD	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:1606
2563	GABRD	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1606
2563	GABRD	HP:0001250	Seizure	HP:0040282	ORPHA:1606
2563	GABRD	HP:0001252	Hypotonia	HP:0040283	ORPHA:36387
2563	GABRD	HP:0001252	Hypotonia	HP:0040281	ORPHA:1606
2563	GABRD	HP:0001251	Ataxia	HP:0040283	ORPHA:36387
2563	GABRD	HP:0001249	Intellectual disability	-	ORPHA:307
2563	GABRD	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1606
2563	GABRD	HP:0002591	Polyphagia	HP:0040283	ORPHA:1606
2563	GABRD	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1606
2563	GABRD	HP:0008770	Obsessive-compulsive trait	HP:0040284	ORPHA:36387
2563	GABRD	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:1606
2563	GABRD	HP:0007359	Focal-onset seizure	-	OMIM:613060
2563	GABRD	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:36387
2563	GABRD	HP:0002539	Cortical dysplasia	HP:0040283	ORPHA:36387
2563	GABRD	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:1606
2563	GABRD	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000055	Abnormal female external genitalia morphology	HP:0040283	ORPHA:1606
2563	GABRD	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:1606
2563	GABRD	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000047	Hypospadias	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1606
2563	GABRD	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:1606
2563	GABRD	HP:0001344	Absent speech	HP:0040281	ORPHA:1606
2563	GABRD	HP:0001337	Tremor	HP:0040284	ORPHA:36387
2563	GABRD	HP:0000006	Autosomal dominant inheritance	-	OMIM:613060
2563	GABRD	HP:0002650	Scoliosis	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000160	Narrow mouth	HP:0040282	ORPHA:1606
2563	GABRD	HP:0000135	Hypogonadism	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000153	Abnormality of the mouth	HP:0040282	ORPHA:307
2563	GABRD	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000107	Renal cyst	HP:0040283	ORPHA:1606
2563	GABRD	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:1606
2563	GABRD	HP:0004684	Talipes valgus	HP:0040284	ORPHA:36387
2563	GABRD	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:1606
2563	GABRD	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:1606
2563	GABRD	HP:0002019	Constipation	HP:0040282	ORPHA:1606
2563	GABRD	HP:0002015	Dysphagia	HP:0040282	ORPHA:1606
2563	GABRD	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1606
2563	GABRD	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1606
2563	GABRD	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:36387
2563	GABRD	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:1606
2563	GABRD	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:613060
2563	GABRD	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:36387
2563	GABRD	HP:0002067	Bradykinesia	HP:0040284	ORPHA:36387
2563	GABRD	HP:0002123	Generalized myoclonic seizure	-	OMIM:613060
2563	GABRD	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:36387
2563	GABRD	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1606
2563	GABRD	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:307
2563	GABRD	HP:0002121	Generalized non-motor (absence) seizure	-	OMIM:613060
2563	GABRD	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:36387
2563	GABRD	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1606
2563	GABRD	HP:0002133	Status epilepticus	HP:0040284	ORPHA:307
2563	GABRD	HP:0002133	Status epilepticus	HP:0040284	ORPHA:36387
2563	GABRD	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:1606
2563	GABRD	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:307
2563	GABRD	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:36387
2563	GABRD	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1606
2563	GABRD	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1606
2563	GABRD	HP:0002242	Abnormal intestine morphology	HP:0040283	ORPHA:1606
2563	GABRD	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:1606
2563	GABRD	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:1606
2563	GABRD	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:36387
2563	GABRD	HP:0007000	Morning myoclonic jerks	HP:0040281	ORPHA:307
2563	GABRD	HP:0007058	Generalized cerebral atrophy/hypoplasia	HP:0040283	ORPHA:36387
2563	GABRD	HP:0002384	Focal impaired awareness seizure	HP:0040284	ORPHA:36387
2563	GABRD	HP:0002392	EEG with polyspike wave complexes	HP:0040281	ORPHA:307
2563	GABRD	HP:0002376	Developmental regression	HP:0040283	ORPHA:36387
2563	GABRD	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:307
2563	GABRD	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	-	OMIM:613060
2563	GABRD	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:36387
2563	GABRD	HP:0001009	Telangiectasia	HP:0040283	ORPHA:1606
2563	GABRD	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1606
2563	GABRD	HP:0007207	Photosensitive tonic-clonic seizure	HP:0040283	ORPHA:307
2563	GABRD	HP:0010819	Atonic seizure	HP:0040283	ORPHA:36387
2563	GABRD	HP:0008499	High hypermetropia	HP:0040282	ORPHA:1606
2563	GABRD	HP:0100694	Tibial torsion	HP:0040284	ORPHA:36387
2563	GABRD	HP:0002311	Incoordination	HP:0040283	ORPHA:36387
2563	GABRD	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1606
2563	GABRD	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000639	Nystagmus	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1606
2563	GABRD	HP:0004322	Short stature	HP:0040283	ORPHA:1606
2563	GABRD	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1606
2563	GABRD	HP:0003066	Limited knee extension	HP:0040284	ORPHA:36387
2563	GABRD	HP:0004378	Abnormality of the anus	HP:0040283	ORPHA:1606
2563	GABRD	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:1606
2563	GABRD	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:1606
2563	GABRD	HP:0012733	Macule	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000739	Anxiety	HP:0040284	ORPHA:36387
2563	GABRD	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:1606
2563	GABRD	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:1606
2563	GABRD	HP:0000718	Aggressive behavior	HP:0040284	ORPHA:307
2563	GABRD	HP:0000717	Autism	HP:0040282	ORPHA:1606
2563	GABRD	HP:0000729	Autistic behavior	HP:0040284	ORPHA:36387
2563	GABRD	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1606
2563	GABRD	HP:0003198	Myopathy	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000902	Rib fusion	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000878	11 pairs of ribs	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000892	Bifid ribs	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1606
2563	GABRD	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000286	Epicanthus	HP:0040282	ORPHA:1606
2563	GABRD	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:1606
2563	GABRD	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:1606
2563	GABRD	HP:0002808	Kyphosis	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000252	Microcephaly	HP:0040282	ORPHA:1606
2563	GABRD	HP:0000248	Brachycephaly	HP:0040282	ORPHA:1606
2563	GABRD	HP:0001508	Failure to thrive	HP:0040281	ORPHA:1606
2563	GABRD	HP:0001513	Obesity	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1606
2563	GABRD	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000343	Long philtrum	HP:0040281	ORPHA:1606
2563	GABRD	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1606
2563	GABRD	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:1606
2563	GABRD	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:1606
2563	GABRD	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000307	Pointed chin	HP:0040281	ORPHA:1606
2563	GABRD	HP:0011151	Atypical absence status epilepticus	HP:0040283	ORPHA:36387
2563	GABRD	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:1606
2563	GABRD	HP:0001734	Annular pancreas	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:1606
2563	GABRD	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1606
2563	GABRD	HP:0000486	Strabismus	HP:0040282	ORPHA:1606
2563	GABRD	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:307
2563	GABRD	HP:0000490	Deeply set eye	HP:0040281	ORPHA:1606
2563	GABRD	HP:0000464	Abnormality of the neck	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:1606
2563	GABRD	HP:0001773	Short foot	HP:0040281	ORPHA:1606
2563	GABRD	HP:0001763	Pes planus	HP:0040284	ORPHA:36387
2563	GABRD	HP:0001743	Abnormality of the spleen	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1606
2563	GABRD	HP:0000518	Cataract	HP:0040283	ORPHA:1606
2563	GABRD	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000505	Visual impairment	HP:0040283	ORPHA:1606
2563	GABRD	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1606
2563	GABRD	HP:0011228	Horizontal eyebrow	HP:0040281	ORPHA:1606
2563	GABRD	HP:0000534	Abnormal eyebrow morphology	HP:0040282	ORPHA:1606
2566	GABRG2	HP:0025101	Dysgenesis of the hippocampus	HP:0040283	ORPHA:33069
2566	GABRG2	HP:0007270	Atypical absence seizure	HP:0040284	ORPHA:1945
2566	GABRG2	HP:0007270	Atypical absence seizure	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0007270	Atypical absence seizure	2/8	OMIM:618396
2566	GABRG2	HP:0007240	Progressive gait ataxia	HP:0040281	ORPHA:33069
2566	GABRG2	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:36387
2566	GABRG2	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
2566	GABRG2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
2566	GABRG2	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0001250	Seizure	HP:0040282	ORPHA:442835
2566	GABRG2	HP:0001252	Hypotonia	6/8	OMIM:618396
2566	GABRG2	HP:0001252	Hypotonia	HP:0040283	ORPHA:36387
2566	GABRG2	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0001251	Ataxia	HP:0040283	ORPHA:36387
2566	GABRG2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
2566	GABRG2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:64280
2566	GABRG2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
2566	GABRG2	HP:0001266	Choreoathetosis	2/8	OMIM:618396
2566	GABRG2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
2566	GABRG2	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0008770	Obsessive-compulsive trait	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0008770	Obsessive-compulsive trait	HP:0040284	ORPHA:36387
2566	GABRG2	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:36387
2566	GABRG2	HP:0007359	Focal-onset seizure	HP:0040281	ORPHA:33069
2566	GABRG2	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:1945
2566	GABRG2	HP:0007332	Focal hemifacial clonic seizure	HP:0040282	ORPHA:1945
2566	GABRG2	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:1945
2566	GABRG2	HP:0002539	Cortical dysplasia	HP:0040283	ORPHA:36387
2566	GABRG2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0003829	Typified by incomplete penetrance	-	OMIM:607681
2566	GABRG2	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
2566	GABRG2	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:64280
2566	GABRG2	HP:0001328	Specific learning disability	HP:0040283	ORPHA:64280
2566	GABRG2	HP:0001328	Specific learning disability	HP:0040283	ORPHA:1945
2566	GABRG2	HP:0001327	Photosensitive myoclonic seizure	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0001326	EEG with irregular generalized spike and wave complexes	HP:0040284	ORPHA:1945
2566	GABRG2	HP:0001344	Absent speech	8/8	OMIM:618396
2566	GABRG2	HP:0001337	Tremor	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0001337	Tremor	HP:0040284	ORPHA:36387
2566	GABRG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618396
2566	GABRG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:607681
2566	GABRG2	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0001336	Myoclonus	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0001300	Parkinsonism	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0025425	Laryngospasm	HP:0040282	ORPHA:1945
2566	GABRG2	HP:0008947	Floppy infant	HP:0040283	ORPHA:33069
2566	GABRG2	HP:0004684	Talipes valgus	HP:0040284	ORPHA:36387
2566	GABRG2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:36387
2566	GABRG2	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:64280
2566	GABRG2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:36387
2566	GABRG2	HP:0002069	Bilateral tonic-clonic seizure	7/14	OMIM:607681
2566	GABRG2	HP:0002069	Bilateral tonic-clonic seizure	3/8	OMIM:618396
2566	GABRG2	HP:0002067	Bradykinesia	HP:0040284	ORPHA:36387
2566	GABRG2	HP:0002067	Bradykinesia	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0002063	Rigidity	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0002076	Migraine	HP:0040283	ORPHA:1945
2566	GABRG2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:36387
2566	GABRG2	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0002121	Generalized non-motor (absence) seizure	-	OMIM:607681
2566	GABRG2	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:36387
2566	GABRG2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
2566	GABRG2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:36387
2566	GABRG2	HP:0002188	Delayed CNS myelination	1/8	OMIM:618396
2566	GABRG2	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:36387
2566	GABRG2	HP:0010535	Sleep apnea	HP:0040282	ORPHA:1945
2566	GABRG2	HP:0010522	Dyslexia	HP:0040283	ORPHA:64280
2566	GABRG2	HP:0003401	Paresthesia	HP:0040283	ORPHA:1945
2566	GABRG2	HP:0003593	Infantile onset	4/8	OMIM:618396
2566	GABRG2	HP:0100710	Impulsivity	HP:0040283	ORPHA:33069
2566	GABRG2	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0200134	Epileptic encephalopathy	8/8	OMIM:618396
2566	GABRG2	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:33069
2566	GABRG2	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:33069
2566	GABRG2	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:36387
2566	GABRG2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:64280
2566	GABRG2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:1945
2566	GABRG2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0007058	Generalized cerebral atrophy/hypoplasia	HP:0040283	ORPHA:36387
2566	GABRG2	HP:0002384	Focal impaired awareness seizure	HP:0040284	ORPHA:36387
2566	GABRG2	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0002384	Focal impaired awareness seizure	3/8	OMIM:618396
2566	GABRG2	HP:0002396	Cogwheel rigidity	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0002392	EEG with polyspike wave complexes	-	OMIM:607681
2566	GABRG2	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
2566	GABRG2	HP:0002376	Developmental regression	HP:0040283	ORPHA:36387
2566	GABRG2	HP:0002376	Developmental regression	HP:0040281	ORPHA:33069
2566	GABRG2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:64280
2566	GABRG2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	13/14	OMIM:607681
2566	GABRG2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:36387
2566	GABRG2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1945
2566	GABRG2	HP:0002345	Action tremor	HP:0040283	ORPHA:33069
2566	GABRG2	HP:0002349	Focal aware seizure	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	-	OMIM:607681
2566	GABRG2	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	HP:0040281	ORPHA:64280
2566	GABRG2	HP:0010841	Multifocal epileptiform discharges	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
2566	GABRG2	HP:0007207	Photosensitive tonic-clonic seizure	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0010819	Atonic seizure	2/8	OMIM:618396
2566	GABRG2	HP:0010819	Atonic seizure	HP:0040283	ORPHA:36387
2566	GABRG2	HP:0010818	Generalized tonic seizure	HP:0040284	ORPHA:33069
2566	GABRG2	HP:0200048	Cyanotic episode	HP:0040283	ORPHA:33069
2566	GABRG2	HP:0010794	Impaired visuospatial constructive cognition	HP:0040283	ORPHA:64280
2566	GABRG2	HP:0100694	Tibial torsion	HP:0040283	ORPHA:33069
2566	GABRG2	HP:0100694	Tibial torsion	HP:0040284	ORPHA:36387
2566	GABRG2	HP:0003623	Neonatal onset	1/8	OMIM:618396
2566	GABRG2	HP:0002311	Incoordination	HP:0040283	ORPHA:33069
2566	GABRG2	HP:0002311	Incoordination	HP:0040283	ORPHA:36387
2566	GABRG2	HP:0002307	Drooling	HP:0040283	ORPHA:33069
2566	GABRG2	HP:0002307	Drooling	HP:0040282	ORPHA:1945
2566	GABRG2	HP:0006813	Focal hemiclonic seizure	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:1945
2566	GABRG2	HP:0006889	Intellectual disability, borderline	HP:0040283	ORPHA:1945
2566	GABRG2	HP:0000639	Nystagmus	3/8	OMIM:618396
2566	GABRG2	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
2566	GABRG2	HP:0011344	Severe global developmental delay	8/8	OMIM:618396
2566	GABRG2	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0004322	Short stature	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0006961	Jerky head movements	HP:0040284	ORPHA:64280
2566	GABRG2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0003066	Limited knee extension	HP:0040283	ORPHA:33069
2566	GABRG2	HP:0003066	Limited knee extension	HP:0040284	ORPHA:36387
2566	GABRG2	HP:0000739	Anxiety	HP:0040283	ORPHA:64280
2566	GABRG2	HP:0000739	Anxiety	HP:0040284	ORPHA:36387
2566	GABRG2	HP:0000739	Anxiety	HP:0040283	ORPHA:1945
2566	GABRG2	HP:0000739	Anxiety	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0000736	Short attention span	HP:0040283	ORPHA:33069
2566	GABRG2	HP:0000736	Short attention span	HP:0040283	ORPHA:1945
2566	GABRG2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
2566	GABRG2	HP:0000716	Depression	HP:0040283	ORPHA:64280
2566	GABRG2	HP:0000716	Depression	HP:0040283	ORPHA:1945
2566	GABRG2	HP:0000717	Autism	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0000712	Emotional lability	HP:0040283	ORPHA:1945
2566	GABRG2	HP:0000729	Autistic behavior	HP:0040284	ORPHA:36387
2566	GABRG2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0011468	Facial tics	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0011463	Childhood onset	3/8	OMIM:618396
2566	GABRG2	HP:0011463	Childhood onset	-	OMIM:607681
2566	GABRG2	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
2566	GABRG2	HP:0034295	Reduced cerebral white matter volume	1/8	OMIM:618396
2566	GABRG2	HP:0012847	Epilepsia partialis continua	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0045084	Limb myoclonus	HP:0040284	ORPHA:64280
2566	GABRG2	HP:0000980	Pallor	HP:0040282	ORPHA:64280
2566	GABRG2	HP:0000980	Pallor	HP:0040283	ORPHA:33069
2566	GABRG2	HP:0008081	Pes valgus	HP:0040283	ORPHA:33069
2566	GABRG2	HP:0007738	Uncontrolled eye movements	HP:0040283	ORPHA:64280
2566	GABRG2	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0002883	Hyperventilation	HP:0040283	ORPHA:64280
2566	GABRG2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
2566	GABRG2	HP:0032792	Tonic seizure	2/8	OMIM:618396
2566	GABRG2	HP:0000348	High forehead	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0032794	Myoclonic seizure	1/8	OMIM:618396
2566	GABRG2	HP:0031469	Low self-esteem	HP:0040283	ORPHA:64280
2566	GABRG2	HP:0031475	Status epilepticus without prominent motor symptoms	HP:0040283	ORPHA:33069
2566	GABRG2	HP:0011198	EEG with generalized epileptiform discharges	HP:0040283	ORPHA:33069
2566	GABRG2	HP:0011185	EEG with focal epileptiform discharges	HP:0040283	ORPHA:33069
2566	GABRG2	HP:0011182	Interictal epileptiform activity	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0011169	Generalized clonic seizure	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0011172	Complex febrile seizure	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0011147	Typical absence seizure	HP:0040281	ORPHA:64280
2566	GABRG2	HP:0011147	Typical absence seizure	2/8	OMIM:618396
2566	GABRG2	HP:0011151	Atypical absence status epilepticus	HP:0040283	ORPHA:36387
2566	GABRG2	HP:0011150	Myoclonic absence seizure	HP:0040283	ORPHA:64280
2566	GABRG2	HP:0030218	Punding	HP:0040283	ORPHA:64280
2566	GABRG2	HP:0012469	Infantile spasms	1/8	OMIM:618396
2566	GABRG2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0012433	Abnormal social behavior	HP:0040283	ORPHA:64280
2566	GABRG2	HP:0000466	Limited neck range of motion	HP:0040282	ORPHA:33069
2566	GABRG2	HP:0001763	Pes planus	HP:0040284	ORPHA:36387
2566	GABRG2	HP:0001763	Pes planus	HP:0040283	ORPHA:33069
2566	GABRG2	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
2566	GABRG2	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
2566	GABRG2	HP:0012557	EEG with centrotemporal focal spike waves	HP:0040281	ORPHA:1945
2566	GABRG2	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
2566	GABRG2	HP:0012534	Dysesthesia	HP:0040283	ORPHA:1945
2566	GABRG2	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
2571	GAD1	HP:0002487	Hyperkinetic movements	1/11	OMIM:619124
2571	GAD1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2/11	OMIM:619124
2571	GAD1	HP:0010851	EEG with burst suppression	7/10	OMIM:619124
2571	GAD1	HP:0001276	Hypertonia	3/11	OMIM:619124
2571	GAD1	HP:0001272	Cerebellar atrophy	2/9	OMIM:619124
2571	GAD1	HP:0001263	Global developmental delay	7/7	OMIM:619124
2571	GAD1	HP:0001257	Spasticity	5/11	OMIM:619124
2571	GAD1	HP:0008665	Clitoral hypertrophy	1/5	OMIM:619124
2571	GAD1	HP:0002553	Highly arched eyebrow	1/11	OMIM:619124
2571	GAD1	HP:0002521	Hypsarrhythmia	2/10	OMIM:619124
2571	GAD1	HP:0003819	Death in childhood	3/11	OMIM:619124
2571	GAD1	HP:0003811	Neonatal death	1/11	OMIM:619124
2571	GAD1	HP:0000064	Hypoplastic labia minora	1/5	OMIM:619124
2571	GAD1	HP:0000059	Hypoplastic labia majora	1/5	OMIM:619124
2571	GAD1	HP:0001371	Flexion contracture	6/11	OMIM:619124
2571	GAD1	HP:0001347	Hyperreflexia	1/11	OMIM:619124
2571	GAD1	HP:0001332	Dystonia	3/11	OMIM:619124
2571	GAD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619124
2571	GAD1	HP:0002650	Scoliosis	4/11	OMIM:619124
2571	GAD1	HP:0000175	Cleft palate	7/11	OMIM:619124
2571	GAD1	HP:0008936	Axial hypotonia	5/11	OMIM:619124
2571	GAD1	HP:0002079	Hypoplasia of the corpus callosum	1/9	OMIM:619124
2571	GAD1	HP:0002059	Cerebral atrophy	2/9	OMIM:619124
2571	GAD1	HP:0002187	Intellectual disability, profound	10/10	OMIM:619124
2571	GAD1	HP:0003593	Infantile onset	1/11	OMIM:619124
2571	GAD1	HP:0002273	Tetraparesis	2/11	OMIM:619124
2571	GAD1	HP:0010722	Asymmetry of the ears	1/11	OMIM:619124
2571	GAD1	HP:0009826	Limb undergrowth	1/11	OMIM:619124
2571	GAD1	HP:0003623	Neonatal onset	10/11	OMIM:619124
2571	GAD1	HP:0000774	Narrow chest	1/11	OMIM:619124
2571	GAD1	HP:0045075	Sparse eyebrow	1/11	OMIM:619124
2571	GAD1	HP:0000256	Macrocephaly	1/11	OMIM:619124
2571	GAD1	HP:0000219	Thin upper lip vermilion	2/11	OMIM:619124
2571	GAD1	HP:0001539	Omphalocele	2/11	OMIM:619124
2571	GAD1	HP:0011097	Epileptic spasm	6/11	OMIM:619124
2571	GAD1	HP:0012368	Flat face	1/11	OMIM:619124
2571	GAD1	HP:0000369	Low-set ears	2/11	OMIM:619124
2571	GAD1	HP:0000343	Long philtrum	1/11	OMIM:619124
2571	GAD1	HP:0032794	Myoclonic seizure	6/11	OMIM:619124
2571	GAD1	HP:0000319	Smooth philtrum	1/11	OMIM:619124
2571	GAD1	HP:0000316	Hypertelorism	4/11	OMIM:619124
2571	GAD1	HP:0000308	Microretrognathia	2/11	OMIM:619124
2571	GAD1	HP:0005280	Depressed nasal bridge	1/11	OMIM:619124
2571	GAD1	HP:0000494	Downslanted palpebral fissures	1/11	OMIM:619124
2571	GAD1	HP:0000463	Anteverted nares	2/11	OMIM:619124
2571	GAD1	HP:0001762	Talipes equinovarus	5/11	OMIM:619124
2571	GAD1	HP:0000431	Wide nasal bridge	2/11	OMIM:619124
2571	GAD1	HP:0000582	Upslanted palpebral fissure	1/11	OMIM:619124
2581	GALC	HP:0001188	Hand clenching	HP:0040282	ORPHA:206436
2581	GALC	HP:0002492	Abnormal corticospinal tract morphology	HP:0040284	ORPHA:206448
2581	GALC	HP:0002493	Upper motor neuron dysfunction	HP:0040282	ORPHA:206443
2581	GALC	HP:0002493	Upper motor neuron dysfunction	HP:0040281	ORPHA:206448
2581	GALC	HP:0002445	Tetraplegia	HP:0040283	ORPHA:206443
2581	GALC	HP:0007305	CNS demyelination	5/22	OMIM:245200
2581	GALC	HP:0007305	CNS demyelination	HP:0040282	ORPHA:206448
2581	GALC	HP:0100963	Hyperesthesia	HP:0040283	ORPHA:206436
2581	GALC	HP:0002421	Poor head control	HP:0040283	ORPHA:206436
2581	GALC	HP:0002418	Abnormal midbrain morphology	HP:0040282	ORPHA:206448
2581	GALC	HP:0001298	Encephalopathy	HP:0040283	ORPHA:206436
2581	GALC	HP:0001276	Hypertonia	-	OMIM:245200
2581	GALC	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:206448
2581	GALC	HP:0001270	Motor delay	HP:0040282	ORPHA:206443
2581	GALC	HP:0001268	Mental deterioration	HP:0040282	ORPHA:206443
2581	GALC	HP:0001268	Mental deterioration	HP:0040283	ORPHA:206448
2581	GALC	HP:0001268	Mental deterioration	HP:0040281	ORPHA:206436
2581	GALC	HP:0001288	Gait disturbance	HP:0040282	ORPHA:206443
2581	GALC	HP:0001288	Gait disturbance	HP:0040283	ORPHA:206448
2581	GALC	HP:0001250	Seizure	HP:0040283	ORPHA:206443
2581	GALC	HP:0001250	Seizure	HP:0040283	ORPHA:206436
2581	GALC	HP:0001250	Seizure	-	OMIM:245200
2581	GALC	HP:0001252	Hypotonia	-	OMIM:245200
2581	GALC	HP:0001251	Ataxia	HP:0040283	ORPHA:206443
2581	GALC	HP:0001251	Ataxia	HP:0040282	ORPHA:206448
2581	GALC	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:206436
2581	GALC	HP:0001264	Spastic diplegia	HP:0040282	ORPHA:206443
2581	GALC	HP:0001264	Spastic diplegia	HP:0040284	ORPHA:206436
2581	GALC	HP:0001260	Dysarthria	HP:0040283	ORPHA:206443
2581	GALC	HP:0001263	Global developmental delay	HP:0040283	ORPHA:206436
2581	GALC	HP:0001257	Spasticity	HP:0040282	ORPHA:206448
2581	GALC	HP:0001257	Spasticity	HP:0040281	ORPHA:206436
2581	GALC	HP:0007361	Abnormal pons morphology	HP:0040282	ORPHA:206448
2581	GALC	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:206448
2581	GALC	HP:0002518	Abnormal periventricular white matter morphology	HP:0040282	ORPHA:206436
2581	GALC	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:206436
2581	GALC	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:206436
2581	GALC	HP:0002506	Diffuse cerebral atrophy	-	OMIM:245200
2581	GALC	HP:0002505	Loss of ambulation	HP:0040282	ORPHA:206443
2581	GALC	HP:0031006	Acroparesthesia	HP:0040283	ORPHA:206443
2581	GALC	HP:0031006	Acroparesthesia	HP:0040283	ORPHA:206448
2581	GALC	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:206448
2581	GALC	HP:0001350	Slurred speech	HP:0040283	ORPHA:206443
2581	GALC	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:206436
2581	GALC	HP:0031161	Reduced brain glutamate level by MRS	HP:0040282	ORPHA:206436
2581	GALC	HP:0001324	Muscle weakness	HP:0040283	ORPHA:206436
2581	GALC	HP:0000007	Autosomal recessive inheritance	-	OMIM:245200
2581	GALC	HP:0001337	Tremor	HP:0040283	ORPHA:206443
2581	GALC	HP:0001336	Myoclonus	HP:0040283	ORPHA:206436
2581	GALC	HP:0002650	Scoliosis	HP:0040283	ORPHA:206448
2581	GALC	HP:0008936	Axial hypotonia	23/30	OMIM:245200
2581	GALC	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:206443
2581	GALC	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:206436
2581	GALC	HP:0002719	Recurrent infections	HP:0040283	ORPHA:206436
2581	GALC	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:206436
2581	GALC	HP:0002013	Vomiting	HP:0040283	ORPHA:206436
2581	GALC	HP:0002013	Vomiting	-	OMIM:245200
2581	GALC	HP:0005968	Temperature instability	HP:0040283	ORPHA:206436
2581	GALC	HP:0002098	Respiratory distress	HP:0040283	ORPHA:206436
2581	GALC	HP:0002068	Neuromuscular dysphagia	HP:0040283	ORPHA:206443
2581	GALC	HP:0003394	Muscle spasm	HP:0040283	ORPHA:206436
2581	GALC	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:206443
2581	GALC	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:206436
2581	GALC	HP:0002062	Abnormal pyramidal tract morphology	HP:0040283	ORPHA:206448
2581	GALC	HP:0003474	Somatic sensory dysfunction	HP:0040283	ORPHA:206448
2581	GALC	HP:0003487	Babinski sign	HP:0040282	ORPHA:206448
2581	GALC	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:206443
2581	GALC	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:206448
2581	GALC	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:206436
2581	GALC	HP:0002136	Broad-based gait	HP:0040284	ORPHA:206448
2581	GALC	HP:0002180	Neurodegeneration	-	OMIM:245200
2581	GALC	HP:0002191	Progressive spasticity	30/30	OMIM:245200
2581	GALC	HP:0002179	Opisthotonus	HP:0040283	ORPHA:206436
2581	GALC	HP:0003593	Infantile onset	25/30	OMIM:245200
2581	GALC	HP:0002273	Tetraparesis	HP:0040284	ORPHA:206448
2581	GALC	HP:0003552	Muscle stiffness	HP:0040283	ORPHA:206436
2581	GALC	HP:0003547	Shoulder girdle muscle weakness	HP:0040283	ORPHA:206436
2581	GALC	HP:0010729	Cherry red spot of the macula	HP:0040284	ORPHA:206436
2581	GALC	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:206443
2581	GALC	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:206443
2581	GALC	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:206436
2581	GALC	HP:0001053	Hypopigmented skin patches	HP:0040284	ORPHA:206436
2581	GALC	HP:0025013	Decerebrate rigidity	HP:0040283	ORPHA:206436
2581	GALC	HP:0025013	Decerebrate rigidity	-	OMIM:245200
2581	GALC	HP:0002361	Psychomotor deterioration	HP:0040282	ORPHA:206436
2581	GALC	HP:0002359	Frequent falls	HP:0040282	ORPHA:206443
2581	GALC	HP:0002359	Frequent falls	HP:0040283	ORPHA:206448
2581	GALC	HP:0002376	Developmental regression	12/30	OMIM:245200
2581	GALC	HP:0002376	Developmental regression	HP:0040282	ORPHA:206443
2581	GALC	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:206443
2581	GALC	HP:0002371	Loss of speech	HP:0040282	ORPHA:206443
2581	GALC	HP:0002371	Loss of speech	HP:0040284	ORPHA:206448
2581	GALC	HP:0002344	Progressive neurologic deterioration	HP:0040283	ORPHA:206448
2581	GALC	HP:0002344	Progressive neurologic deterioration	HP:0040281	ORPHA:206436
2581	GALC	HP:0002353	EEG abnormality	-	OMIM:245200
2581	GALC	HP:0002353	EEG abnormality	HP:0040283	ORPHA:206448
2581	GALC	HP:0002313	Spastic paraparesis	HP:0040282	ORPHA:206443
2581	GALC	HP:0002333	Motor deterioration	-	OMIM:245200
2581	GALC	HP:0010846	EEG with persistent abnormal rhythmic activity	HP:0040282	ORPHA:206443
2581	GALC	HP:0010830	Impaired tactile sensation	HP:0040283	ORPHA:206443
2581	GALC	HP:0010830	Impaired tactile sensation	HP:0040283	ORPHA:206448
2581	GALC	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:206443
2581	GALC	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:206448
2581	GALC	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:206436
2581	GALC	HP:0100639	Erectile dysfunction	HP:0040284	ORPHA:206448
2581	GALC	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:206443
2581	GALC	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:206448
2581	GALC	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:206436
2581	GALC	HP:0007141	Sensorimotor neuropathy	-	OMIM:245200
2581	GALC	HP:0007103	Hypointensity of cerebral white matter on MRI	HP:0040283	ORPHA:206436
2581	GALC	HP:0002301	Hemiplegia	HP:0040283	ORPHA:206443
2581	GALC	HP:0002301	Hemiplegia	HP:0040284	ORPHA:206448
2581	GALC	HP:0002312	Clumsiness	HP:0040282	ORPHA:206443
2581	GALC	HP:0002312	Clumsiness	HP:0040283	ORPHA:206448
2581	GALC	HP:0007199	Progressive spastic paraparesis	HP:0040282	ORPHA:206448
2581	GALC	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:206436
2581	GALC	HP:0006801	Hyperactive deep tendon reflexes	-	OMIM:245200
2581	GALC	HP:0006801	Hyperactive deep tendon reflexes	HP:0040282	ORPHA:206448
2581	GALC	HP:0000639	Nystagmus	-	OMIM:245200
2581	GALC	HP:0000649	Abnormality of visual evoked potentials	HP:0040281	ORPHA:206436
2581	GALC	HP:0000649	Abnormality of visual evoked potentials	HP:0040282	ORPHA:206443
2581	GALC	HP:0000648	Optic atrophy	HP:0040283	ORPHA:206436
2581	GALC	HP:0000648	Optic atrophy	-	OMIM:245200
2581	GALC	HP:0001973	Autoimmune thrombocytopenia	-	OMIM:245200
2581	GALC	HP:0000618	Blindness	HP:0040283	ORPHA:206443
2581	GALC	HP:0000618	Blindness	HP:0040283	ORPHA:206436
2581	GALC	HP:0000618	Blindness	-	OMIM:245200
2581	GALC	HP:0000613	Photophobia	HP:0040283	ORPHA:206436
2581	GALC	HP:0001955	Unexplained fevers	HP:0040281	ORPHA:206436
2581	GALC	HP:0001954	Recurrent fever	-	OMIM:245200
2581	GALC	HP:0004326	Cachexia	HP:0040283	ORPHA:206436
2581	GALC	HP:0004302	Functional motor deficit	HP:0040282	ORPHA:206443
2581	GALC	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:206448
2581	GALC	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:206436
2581	GALC	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:206448
2581	GALC	HP:0011400	Abnormal CNS myelination	HP:0040282	ORPHA:206443
2581	GALC	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:206443
2581	GALC	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:206436
2581	GALC	HP:0000762	Decreased nerve conduction velocity	-	OMIM:245200
2581	GALC	HP:0000737	Irritability	HP:0040284	ORPHA:206443
2581	GALC	HP:0000737	Irritability	HP:0040281	ORPHA:206436
2581	GALC	HP:0012706	Elevated brain choline level by MRS	HP:0040282	ORPHA:206436
2581	GALC	HP:0012708	Reduced brain N-acetyl aspartate level by MRS	HP:0040282	ORPHA:206436
2581	GALC	HP:0000712	Emotional lability	HP:0040283	ORPHA:206443
2581	GALC	HP:0000726	Dementia	HP:0040283	ORPHA:206448
2581	GALC	HP:0000708	Atypical behavior	HP:0040282	ORPHA:206443
2581	GALC	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:206436
2581	GALC	HP:0011463	Childhood onset	4/30	OMIM:245200
2581	GALC	HP:0011462	Young adult onset	1/30	OMIM:245200
2581	GALC	HP:0011444	Decorticate rigidity	HP:0040283	ORPHA:206436
2581	GALC	HP:0011448	Ankle clonus	HP:0040283	ORPHA:206436
2581	GALC	HP:0011441	Abnormal medulla oblongata morphology	HP:0040283	ORPHA:206448
2581	GALC	HP:0004466	Delayed brainstem auditory evoked response conduction time	HP:0040282	ORPHA:206443
2581	GALC	HP:0004466	Delayed brainstem auditory evoked response conduction time	HP:0040283	ORPHA:206448
2581	GALC	HP:0004466	Delayed brainstem auditory evoked response conduction time	HP:0040282	ORPHA:206436
2581	GALC	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:206448
2581	GALC	HP:0034322	Reduced tissue galactocerebrosidase activity	HP:0040281	ORPHA:206443
2581	GALC	HP:0034322	Reduced tissue galactocerebrosidase activity	HP:0040281	ORPHA:206448
2581	GALC	HP:0034322	Reduced tissue galactocerebrosidase activity	HP:0040281	ORPHA:206436
2581	GALC	HP:0034322	Reduced tissue galactocerebrosidase activity	29/29	OMIM:245200
2581	GALC	HP:0033031	Hyperpyrexia	HP:0040281	ORPHA:206436
2581	GALC	HP:0040194	Increased head circumference	HP:0040283	ORPHA:206436
2581	GALC	HP:0040195	Decreased head circumference	HP:0040283	ORPHA:206436
2581	GALC	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:206436
2581	GALC	HP:0000238	Hydrocephalus	-	OMIM:245200
2581	GALC	HP:0002878	Respiratory failure	HP:0040283	ORPHA:206436
2581	GALC	HP:0001508	Failure to thrive	HP:0040282	ORPHA:206436
2581	GALC	HP:0001508	Failure to thrive	-	OMIM:245200
2581	GALC	HP:0011096	Peripheral demyelination	-	OMIM:245200
2581	GALC	HP:0011096	Peripheral demyelination	HP:0040283	ORPHA:206448
2581	GALC	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040282	ORPHA:206448
2581	GALC	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:206436
2581	GALC	HP:0001601	Laryngomalacia	HP:0040284	ORPHA:206436
2581	GALC	HP:0002922	Increased CSF protein concentration	HP:0040281	ORPHA:206443
2581	GALC	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:206448
2581	GALC	HP:0002922	Increased CSF protein concentration	HP:0040281	ORPHA:206436
2581	GALC	HP:0002922	Increased CSF protein concentration	-	OMIM:245200
2581	GALC	HP:0000365	Hearing impairment	HP:0040282	ORPHA:206443
2581	GALC	HP:0000365	Hearing impairment	HP:0040283	ORPHA:206436
2581	GALC	HP:0000365	Hearing impairment	-	OMIM:245200
2581	GALC	HP:0007928	Abnormal flash visual evoked potentials	-	OMIM:245200
2581	GALC	HP:0030215	Inappropriate crying	HP:0040281	ORPHA:206436
2581	GALC	HP:0030211	Slow pupillary light response	HP:0040283	ORPHA:206436
2581	GALC	HP:0000467	Neck muscle weakness	HP:0040284	ORPHA:206436
2581	GALC	HP:0001761	Pes cavus	HP:0040283	ORPHA:206443
2581	GALC	HP:0001761	Pes cavus	HP:0040284	ORPHA:206448
2581	GALC	HP:0001824	Weight loss	HP:0040283	ORPHA:206436
2581	GALC	HP:0000505	Visual impairment	HP:0040283	ORPHA:206443
2581	GALC	HP:0000572	Visual loss	HP:0040282	ORPHA:206443
2581	GALC	HP:0000572	Visual loss	HP:0040283	ORPHA:206448
2581	GALC	HP:0000572	Visual loss	HP:0040283	ORPHA:206436
2581	GALC	HP:0000565	Esotropia	HP:0040282	ORPHA:206443
2582	GALE	HP:0001290	Generalized hypotonia	-	OMIM:230350
2582	GALE	HP:0001252	Hypotonia	-	OMIM:230350
2582	GALE	HP:0001249	Intellectual disability	2/4	OMIM:620776
2582	GALE	HP:0001249	Intellectual disability	-	OMIM:230350
2582	GALE	HP:0001263	Global developmental delay	1/1	OMIM:230350
2582	GALE	HP:0012023	Galactosuria	-	OMIM:230350
2582	GALE	HP:0012024	Hypergalactosemia	1/1	OMIM:620776
2582	GALE	HP:0012024	Hypergalactosemia	1/1	OMIM:230350
2582	GALE	HP:0001342	Cerebral hemorrhage	3/5	OMIM:620776
2582	GALE	HP:0000007	Autosomal recessive inheritance	-	OMIM:620776
2582	GALE	HP:0000007	Autosomal recessive inheritance	-	OMIM:230350
2582	GALE	HP:0003355	Aminoaciduria	-	OMIM:230350
2582	GALE	HP:0002021	Pyloric stenosis	1/6	OMIM:620776
2582	GALE	HP:0002013	Vomiting	-	OMIM:230350
2582	GALE	HP:0008166	Decreased beta-galactosidase activity	0/1	OMIM:230350
2582	GALE	HP:0002194	Delayed gross motor development	1/1	OMIM:230350
2582	GALE	HP:0003493	Antinuclear antibody positivity	0/4	OMIM:620776
2582	GALE	HP:0002240	Hepatomegaly	2/4	OMIM:620776
2582	GALE	HP:0002240	Hepatomegaly	-	OMIM:230350
2582	GALE	HP:0003623	Neonatal onset	9/10	OMIM:620776
2582	GALE	HP:0005528	Bone marrow hypocellularity	0/1	OMIM:620776
2582	GALE	HP:0001923	Reticulocytosis	1/2	OMIM:620776
2582	GALE	HP:0001903	Anemia	7/10	OMIM:620776
2582	GALE	HP:0001902	Giant platelets	7/7	OMIM:620776
2582	GALE	HP:0000750	Delayed speech and language development	1/1	OMIM:230350
2582	GALE	HP:0011463	Childhood onset	1/5	OMIM:620776
2582	GALE	HP:0011463	Childhood onset	1/1	OMIM:230350
2582	GALE	HP:4000208	Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity	0/1	OMIM:620776
2582	GALE	HP:0000952	Jaundice	1/1	OMIM:230350
2582	GALE	HP:0040185	Macrothrombocytopenia	5/5	OMIM:620776
2582	GALE	HP:0000225	Gingival bleeding	1/1	OMIM:620776
2582	GALE	HP:0001508	Failure to thrive	-	OMIM:230350
2582	GALE	HP:0031385	Megakaryocyte nucleus hypolobulation	2/2	OMIM:620776
2582	GALE	HP:0001634	Mitral valve prolapse	4/9	OMIM:620776
2582	GALE	HP:0000407	Sensorineural hearing impairment	-	OMIM:230350
2582	GALE	HP:0001704	Tricuspid valve prolapse	1/9	OMIM:620776
2582	GALE	HP:0001744	Splenomegaly	-	OMIM:230350
2582	GALE	HP:0000421	Epistaxis	3/4	OMIM:620776
2582	GALE	HP:0000518	Cataract	2/4	OMIM:620776
2582	GALE	HP:0031689	Megakaryocyte dysplasia	10/10	OMIM:620776
2582	GALE	HP:0001892	Abnormal bleeding	3/3	OMIM:620776
2582	GALE	HP:0001888	Decreased total lymphocyte count	1/2	OMIM:620776
2582	GALE	HP:0001882	Decreased total leukocyte count	3/10	OMIM:620776
2582	GALE	HP:0001873	Thrombocytopenia	5/5	OMIM:620776
2582	GALE	HP:0001876	Pancytopenia	2/6	OMIM:620776
2582	GALE	HP:0001875	Decreased total neutrophil count	6/9	OMIM:620776
2583	B4GALNT1	HP:0002495	Impaired vibratory sensation	8/15	OMIM:609195
2583	B4GALNT1	HP:0001288	Gait disturbance	-	OMIM:609195
2583	B4GALNT1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:101006
2583	B4GALNT1	HP:0001256	Intellectual disability, mild	18/18	OMIM:609195
2583	B4GALNT1	HP:0001251	Ataxia	-	OMIM:609195
2583	B4GALNT1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:101006
2583	B4GALNT1	HP:0001265	Hyporeflexia	-	OMIM:609195
2583	B4GALNT1	HP:0001265	Hyporeflexia	HP:0040284	ORPHA:101006
2583	B4GALNT1	HP:0001260	Dysarthria	9/18	OMIM:609195
2583	B4GALNT1	HP:0001258	Spastic paraplegia	-	OMIM:609195
2583	B4GALNT1	HP:0007340	Lower limb muscle weakness	14/15	OMIM:609195
2583	B4GALNT1	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:101006
2583	B4GALNT1	HP:0001347	Hyperreflexia	-	OMIM:609195
2583	B4GALNT1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:101006
2583	B4GALNT1	HP:0001332	Dystonia	4/18	OMIM:609195
2583	B4GALNT1	HP:0001332	Dystonia	HP:0040283	ORPHA:101006
2583	B4GALNT1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:101006
2583	B4GALNT1	HP:0000012	Urinary urgency	HP:0040283	OMIM:609195
2583	B4GALNT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:609195
2583	B4GALNT1	HP:0001310	Dysmetria	-	OMIM:609195
2583	B4GALNT1	HP:0002650	Scoliosis	10/15	OMIM:609195
2583	B4GALNT1	HP:0002650	Scoliosis	HP:0040283	ORPHA:101006
2583	B4GALNT1	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:101006
2583	B4GALNT1	HP:0008944	Distal lower limb amyotrophy	11/18	OMIM:609195
2583	B4GALNT1	HP:0002064	Spastic gait	-	OMIM:609195
2583	B4GALNT1	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:101006
2583	B4GALNT1	HP:0002061	Lower limb spasticity	18/18	OMIM:609195
2583	B4GALNT1	HP:0003487	Babinski sign	14/15	OMIM:609195
2583	B4GALNT1	HP:0003487	Babinski sign	HP:0040282	ORPHA:101006
2583	B4GALNT1	HP:0003484	Upper limb muscle weakness	2/15	OMIM:609195
2583	B4GALNT1	HP:0002120	Cerebral cortical atrophy	2/10	OMIM:609195
2583	B4GALNT1	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:101006
2583	B4GALNT1	HP:0008209	Premature ovarian insufficiency	HP:0040284	ORPHA:101006
2583	B4GALNT1	HP:0003593	Infantile onset	8/18	OMIM:609195
2583	B4GALNT1	HP:0007024	Pseudobulbar paralysis	HP:0040283	ORPHA:101006
2583	B4GALNT1	HP:0002359	Frequent falls	-	OMIM:609195
2583	B4GALNT1	HP:0003676	Progressive	-	OMIM:609195
2583	B4GALNT1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:101006
2583	B4GALNT1	HP:0100660	Dyskinesia	1/18	OMIM:609195
2583	B4GALNT1	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:101006
2583	B4GALNT1	HP:0000639	Nystagmus	3/18	OMIM:609195
2583	B4GALNT1	HP:0006986	Upper limb spasticity	5/15	OMIM:609195
2583	B4GALNT1	HP:0006938	Impaired vibration sensation at ankles	HP:0040283	ORPHA:101006
2583	B4GALNT1	HP:0100020	Posterior capsular cataract	3/18	OMIM:609195
2583	B4GALNT1	HP:0000712	Emotional lability	-	OMIM:609195
2583	B4GALNT1	HP:0011463	Childhood onset	9/18	OMIM:609195
2583	B4GALNT1	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040282	ORPHA:101006
2583	B4GALNT1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:101006
2583	B4GALNT1	HP:0040171	Decreased serum testosterone concentration	HP:0040284	ORPHA:101006
2583	B4GALNT1	HP:0040171	Decreased serum testosterone concentration	3/13	OMIM:609195
2583	B4GALNT1	HP:0030051	Tip-toe gait	-	OMIM:609195
2583	B4GALNT1	HP:0001761	Pes cavus	9/17	OMIM:609195
2583	B4GALNT1	HP:0001761	Pes cavus	HP:0040283	ORPHA:101006
2583	B4GALNT1	HP:0025708	Early young adult onset	1/18	OMIM:609195
2583	B4GALNT1	HP:0000518	Cataract	HP:0040283	ORPHA:101006
2584	GALK1	HP:0001270	Motor delay	HP:0040283	ORPHA:79237
2584	GALK1	HP:0001250	Seizure	HP:0040284	ORPHA:79237
2584	GALK1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:79237
2584	GALK1	HP:0002516	Increased intracranial pressure	HP:0040283	OMIM:230200
2584	GALK1	HP:6000723	Reduced erythrocyte galactokinase activity	2/2	OMIM:230200
2584	GALK1	HP:0012023	Galactosuria	-	OMIM:230200
2584	GALK1	HP:0012024	Hypergalactosemia	-	OMIM:230200
2584	GALK1	HP:0012024	Hypergalactosemia	HP:0040281	ORPHA:79237
2584	GALK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:230200
2584	GALK1	HP:0410062	Increased level of galactitol in urine	HP:0040281	ORPHA:79237
2584	GALK1	HP:0410061	Increased level of galactitol in plasma	HP:0040281	ORPHA:79237
2584	GALK1	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:79237
2584	GALK1	HP:0008209	Premature ovarian insufficiency	HP:0040283	ORPHA:79237
2584	GALK1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:79237
2584	GALK1	HP:0011968	Feeding difficulties	HP:0040284	ORPHA:79237
2584	GALK1	HP:0002361	Psychomotor deterioration	HP:0040284	ORPHA:79237
2584	GALK1	HP:0001943	Hypoglycemia	HP:0040284	ORPHA:79237
2584	GALK1	HP:0100018	Nuclear cataract	HP:0040282	ORPHA:79237
2584	GALK1	HP:0012768	Neonatal asphyxia	HP:0040284	ORPHA:79237
2584	GALK1	HP:0003124	Hypercholesterolemia	HP:0040284	ORPHA:79237
2584	GALK1	HP:0004431	Reduced circulating complement concentration	HP:0040284	ORPHA:79237
2584	GALK1	HP:0000842	Hyperinsulinemia	HP:0040283	ORPHA:79237
2584	GALK1	HP:0000815	Hypergonadotropic hypogonadism	HP:0040283	ORPHA:79237
2584	GALK1	HP:0000252	Microcephaly	HP:0040284	ORPHA:79237
2584	GALK1	HP:0001508	Failure to thrive	HP:0040284	ORPHA:79237
2584	GALK1	HP:0001518	Small for gestational age	HP:0040283	ORPHA:79237
2584	GALK1	HP:0011098	Speech apraxia	HP:0040283	ORPHA:79237
2584	GALK1	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:79237
2584	GALK1	HP:0006579	Prolonged neonatal jaundice	-	OMIM:230200
2584	GALK1	HP:0001622	Premature birth	HP:0040284	ORPHA:79237
2584	GALK1	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:79237
2584	GALK1	HP:0000518	Cataract	-	OMIM:230200
2584	GALK1	HP:0000518	Cataract	HP:0040282	ORPHA:79237
2588	GALNS	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2588	GALNS	HP:0001293	Cranial nerve compression	-	OMIM:131300
2588	GALNS	HP:0001270	Motor delay	1/1	OMIM:253000
2588	GALNS	HP:0001252	Hypotonia	2/7	OMIM:615777
2588	GALNS	HP:0001249	Intellectual disability	5/7	OMIM:615777
2588	GALNS	HP:0001249	Intellectual disability	0/1	OMIM:253000
2588	GALNS	HP:0001263	Global developmental delay	-	OMIM:615777
2588	GALNS	HP:0001223	Pointed proximal second through fifth metacarpals	-	OMIM:253000
2588	GALNS	HP:0002515	Waddling gait	54/102	OMIM:131300
2588	GALNS	HP:0002515	Waddling gait	1/1	OMIM:253000
2588	GALNS	HP:0012070	Chondroitin sulfate excretion in urine	-	OMIM:253000
2588	GALNS	HP:0012069	Keratan sulfate excretion in urine	-	OMIM:253000
2588	GALNS	HP:0001382	Joint hypermobility	-	OMIM:615777
2588	GALNS	HP:0001382	Joint hypermobility	-	OMIM:253000
2588	GALNS	HP:0000023	Inguinal hernia	-	OMIM:253000
2588	GALNS	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2588	GALNS	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2588	GALNS	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2588	GALNS	HP:0001324	Muscle weakness	40/96	OMIM:131300
2588	GALNS	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2588	GALNS	HP:0002673	Coxa valga	-	OMIM:253000
2588	GALNS	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2588	GALNS	HP:0000007	Autosomal recessive inheritance	-	OMIM:253000
2588	GALNS	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2588	GALNS	HP:0002650	Scoliosis	12/14	OMIM:131300
2588	GALNS	HP:0002650	Scoliosis	1/1	OMIM:253000
2588	GALNS	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2588	GALNS	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2588	GALNS	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2588	GALNS	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2588	GALNS	HP:0000175	Cleft palate	2/7	OMIM:615777
2588	GALNS	HP:0000154	Wide mouth	-	OMIM:253000
2588	GALNS	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:253000
2588	GALNS	HP:0003311	Hypoplasia of the odontoid process	-	OMIM:253000
2588	GALNS	HP:0003307	Hyperlordosis	-	OMIM:253000
2588	GALNS	HP:0003308	Cervical subluxation	-	OMIM:253000
2588	GALNS	HP:0003300	Ovoid vertebral bodies	-	OMIM:253000
2588	GALNS	HP:0002091	Restrictive ventilatory defect	-	OMIM:253000
2588	GALNS	HP:0003388	Easy fatigability	36/76	OMIM:131300
2588	GALNS	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2588	GALNS	HP:0003593	Infantile onset	2/2	OMIM:253000
2588	GALNS	HP:0002240	Hepatomegaly	-	OMIM:253000
2588	GALNS	HP:0003510	Severe short stature	7/7	OMIM:615777
2588	GALNS	HP:0003521	Disproportionate short-trunk short stature	1/1	OMIM:253000
2588	GALNS	HP:0002318	Cervical myelopathy	-	OMIM:253000
2588	GALNS	HP:0002315	Headache	-	OMIM:131300
2588	GALNS	HP:0004976	Knee dislocation	6/7	OMIM:615777
2588	GALNS	HP:0009803	Short phalanx of finger	-	OMIM:615777
2588	GALNS	HP:0008454	Lumbar kyphosis	1/1	OMIM:253000
2588	GALNS	HP:0008430	Anterior beaking of lumbar vertebrae	1/1	OMIM:253000
2588	GALNS	HP:0009763	Limb pain	63/92	OMIM:131300
2588	GALNS	HP:0003621	Juvenile onset	-	OMIM:131300
2588	GALNS	HP:0003621	Juvenile onset	-	OMIM:253000
2588	GALNS	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2588	GALNS	HP:4000007	Bronchoconstriction	1/1	OMIM:253000
2588	GALNS	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2588	GALNS	HP:6001056	Out-toeing	-	OMIM:131300
2588	GALNS	HP:0000651	Diplopia	-	OMIM:131300
2588	GALNS	HP:0001956	Truncal obesity	2/7	OMIM:615777
2588	GALNS	HP:0001903	Anemia	HP:0040283	OMIM:131300
2588	GALNS	HP:0010049	Short metacarpal	-	OMIM:615777
2588	GALNS	HP:0000683	Grayish enamel	-	OMIM:253000
2588	GALNS	HP:0000678	Dental crowding	-	OMIM:615777
2588	GALNS	HP:0000687	Widely spaced teeth	-	OMIM:253000
2588	GALNS	HP:0000670	Carious teeth	-	OMIM:131300
2588	GALNS	HP:0000670	Carious teeth	-	OMIM:253000
2588	GALNS	HP:0011304	Broad thumb	2/7	OMIM:615777
2588	GALNS	HP:0000668	Hypodontia	-	OMIM:615777
2588	GALNS	HP:0000664	Synophrys	-	OMIM:615777
2588	GALNS	HP:0003053	Epiphyseal deformities of tubular bones	-	OMIM:253000
2588	GALNS	HP:0004396	Poor appetite	-	OMIM:131300
2588	GALNS	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2588	GALNS	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2588	GALNS	HP:0003049	Ulnar deviation of the wrist	-	OMIM:253000
2588	GALNS	HP:0003016	Metaphyseal widening	-	OMIM:253000
2588	GALNS	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2588	GALNS	HP:0003026	Short long bone	7/7	OMIM:615777
2588	GALNS	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2588	GALNS	HP:0031936	Delayed ability to walk	1/1	OMIM:253000
2588	GALNS	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2588	GALNS	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2588	GALNS	HP:0000768	Pectus carinatum	1/1	OMIM:253000
2588	GALNS	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2588	GALNS	HP:0000750	Delayed speech and language development	-	OMIM:615777
2588	GALNS	HP:0011461	Fetal onset	7/7	OMIM:615777
2588	GALNS	HP:0000774	Narrow chest	2/7	OMIM:615777
2588	GALNS	HP:0000926	Platyspondyly	1/7	OMIM:615777
2588	GALNS	HP:0000926	Platyspondyly	-	OMIM:253000
2588	GALNS	HP:0003180	Flat acetabular roof	-	OMIM:615777
2588	GALNS	HP:0000904	Flaring of rib cage	-	OMIM:253000
2588	GALNS	HP:0004482	Relative macrocephaly	-	OMIM:615777
2588	GALNS	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2588	GALNS	HP:0000884	Prominent sternum	-	OMIM:253000
2588	GALNS	HP:0000823	Delayed puberty	-	OMIM:131300
2588	GALNS	HP:0000894	Short clavicles	-	OMIM:615777
2588	GALNS	HP:0030865	Large elbow	-	OMIM:253000
2588	GALNS	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2588	GALNS	HP:0003277	Constricted iliac wing	-	OMIM:253000
2588	GALNS	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2588	GALNS	HP:0000939	Osteoporosis	-	OMIM:253000
2588	GALNS	HP:0000943	Dysostosis multiplex	1/1	OMIM:253000
2588	GALNS	HP:0000286	Epicanthus	1/7	OMIM:615777
2588	GALNS	HP:0000280	Coarse facial features	2/7	OMIM:615777
2588	GALNS	HP:0000280	Coarse facial features	-	OMIM:253000
2588	GALNS	HP:0007759	Opacification of the corneal stroma	-	OMIM:253000
2588	GALNS	HP:0002827	Hip dislocation	3/7	OMIM:615777
2588	GALNS	HP:0002808	Kyphosis	-	OMIM:253000
2588	GALNS	HP:0000252	Microcephaly	-	OMIM:615777
2588	GALNS	HP:0002857	Genu valgum	-	OMIM:131300
2588	GALNS	HP:0002857	Genu valgum	1/1	OMIM:253000
2588	GALNS	HP:0001533	Slender build	-	OMIM:131300
2588	GALNS	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2588	GALNS	HP:0007807	Optic nerve compression	-	OMIM:131300
2588	GALNS	HP:0012368	Flat face	7/7	OMIM:615777
2588	GALNS	HP:0006532	Recurrent pneumonia	1/1	OMIM:253000
2588	GALNS	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2588	GALNS	HP:0000365	Hearing impairment	10/67	OMIM:131300
2588	GALNS	HP:0000365	Hearing impairment	-	OMIM:253000
2588	GALNS	HP:0000343	Long philtrum	1/7	OMIM:615777
2588	GALNS	HP:0011001	Increased bone mineral density	-	OMIM:131300
2588	GALNS	HP:0000311	Round face	2/7	OMIM:615777
2588	GALNS	HP:0001654	Abnormal heart valve morphology	-	OMIM:253000
2588	GALNS	HP:0002970	Genu varum	-	OMIM:615777
2588	GALNS	HP:0000303	Mandibular prognathia	-	OMIM:131300
2588	GALNS	HP:0000303	Mandibular prognathia	-	OMIM:253000
2588	GALNS	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2588	GALNS	HP:0000470	Short neck	1/7	OMIM:615777
2588	GALNS	HP:0000470	Short neck	1/1	OMIM:253000
2588	GALNS	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2588	GALNS	HP:0001763	Pes planus	1/7	OMIM:615777
2588	GALNS	HP:0001840	Metatarsus adductus	-	OMIM:615777
2588	GALNS	HP:0000520	Proptosis	2/4	OMIM:131300
2588	GALNS	HP:0000520	Proptosis	7/7	OMIM:615777
2588	GALNS	HP:0000592	Blue sclerae	2/7	OMIM:615777
2588	GALNS	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2588	GALNS	HP:0012514	Lower limb pain	4/4	OMIM:131300
2590	GALNT2	HP:0010864	Intellectual disability, severe	6/7	OMIM:618885
2590	GALNT2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2590	GALNT2	HP:0001293	Cranial nerve compression	-	OMIM:131300
2590	GALNT2	HP:0001290	Generalized hypotonia	-	OMIM:618885
2590	GALNT2	HP:0001250	Seizure	6/7	OMIM:618885
2590	GALNT2	HP:0001252	Hypotonia	2/7	OMIM:615777
2590	GALNT2	HP:0001249	Intellectual disability	5/7	OMIM:615777
2590	GALNT2	HP:0001263	Global developmental delay	-	OMIM:618885
2590	GALNT2	HP:0001263	Global developmental delay	-	OMIM:615777
2590	GALNT2	HP:0002515	Waddling gait	54/102	OMIM:131300
2590	GALNT2	HP:0002500	Abnormal cerebral white matter morphology	6/7	OMIM:618885
2590	GALNT2	HP:0025336	Delayed ability to sit	3/7	OMIM:618885
2590	GALNT2	HP:0001382	Joint hypermobility	-	OMIM:615777
2590	GALNT2	HP:0000020	Urinary incontinence	-	OMIM:618885
2590	GALNT2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2590	GALNT2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2590	GALNT2	HP:0031165	Multifocal seizures	-	OMIM:618885
2590	GALNT2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2590	GALNT2	HP:0001324	Muscle weakness	40/96	OMIM:131300
2590	GALNT2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2590	GALNT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618885
2590	GALNT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2590	GALNT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2590	GALNT2	HP:0002650	Scoliosis	12/14	OMIM:131300
2590	GALNT2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2590	GALNT2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2590	GALNT2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2590	GALNT2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2590	GALNT2	HP:0012153	Hypotriglyceridemia	2/6	OMIM:618885
2590	GALNT2	HP:0000175	Cleft palate	2/7	OMIM:615777
2590	GALNT2	HP:0012101	Decreased serum creatinine	6/7	OMIM:618885
2590	GALNT2	HP:0002019	Constipation	-	OMIM:618885
2590	GALNT2	HP:0003388	Easy fatigability	36/76	OMIM:131300
2590	GALNT2	HP:0100512	Decreased circulating vitamin D concentration	-	OMIM:618885
2590	GALNT2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2590	GALNT2	HP:0002194	Delayed gross motor development	5/7	OMIM:618885
2590	GALNT2	HP:0100785	Insomnia	6/7	OMIM:618885
2590	GALNT2	HP:0011968	Feeding difficulties	-	OMIM:618885
2590	GALNT2	HP:0003510	Severe short stature	7/7	OMIM:615777
2590	GALNT2	HP:0002315	Headache	-	OMIM:131300
2590	GALNT2	HP:0004976	Knee dislocation	6/7	OMIM:615777
2590	GALNT2	HP:0010804	Tented upper lip vermilion	-	OMIM:618885
2590	GALNT2	HP:0009803	Short phalanx of finger	-	OMIM:615777
2590	GALNT2	HP:0200055	Small hand	-	OMIM:618885
2590	GALNT2	HP:0009763	Limb pain	63/92	OMIM:131300
2590	GALNT2	HP:0003621	Juvenile onset	-	OMIM:131300
2590	GALNT2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2590	GALNT2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2590	GALNT2	HP:0000639	Nystagmus	1/7	OMIM:618885
2590	GALNT2	HP:6001056	Out-toeing	-	OMIM:131300
2590	GALNT2	HP:0000651	Diplopia	-	OMIM:131300
2590	GALNT2	HP:0001956	Truncal obesity	2/7	OMIM:615777
2590	GALNT2	HP:0001903	Anemia	HP:0040283	OMIM:131300
2590	GALNT2	HP:0010049	Short metacarpal	-	OMIM:615777
2590	GALNT2	HP:0012683	Pineal cyst	2/7	OMIM:618885
2590	GALNT2	HP:0000678	Dental crowding	-	OMIM:615777
2590	GALNT2	HP:0000670	Carious teeth	-	OMIM:131300
2590	GALNT2	HP:0011304	Broad thumb	2/7	OMIM:615777
2590	GALNT2	HP:0000668	Hypodontia	-	OMIM:615777
2590	GALNT2	HP:0000664	Synophrys	-	OMIM:615777
2590	GALNT2	HP:0004322	Short stature	2/7	OMIM:618885
2590	GALNT2	HP:0004396	Poor appetite	-	OMIM:131300
2590	GALNT2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2590	GALNT2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2590	GALNT2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2590	GALNT2	HP:0003026	Short long bone	7/7	OMIM:615777
2590	GALNT2	HP:0031936	Delayed ability to walk	5/7	OMIM:618885
2590	GALNT2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2590	GALNT2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2590	GALNT2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2590	GALNT2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2590	GALNT2	HP:0000750	Delayed speech and language development	-	OMIM:618885
2590	GALNT2	HP:0000750	Delayed speech and language development	-	OMIM:615777
2590	GALNT2	HP:0000729	Autistic behavior	6/7	OMIM:618885
2590	GALNT2	HP:0011461	Fetal onset	7/7	OMIM:615777
2590	GALNT2	HP:0000774	Narrow chest	2/7	OMIM:615777
2590	GALNT2	HP:0000926	Platyspondyly	1/7	OMIM:615777
2590	GALNT2	HP:0003180	Flat acetabular roof	-	OMIM:615777
2590	GALNT2	HP:0004482	Relative macrocephaly	-	OMIM:615777
2590	GALNT2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2590	GALNT2	HP:0000817	Reduced eye contact	5/7	OMIM:618885
2590	GALNT2	HP:0000823	Delayed puberty	-	OMIM:131300
2590	GALNT2	HP:0000894	Short clavicles	-	OMIM:615777
2590	GALNT2	HP:0003233	Decreased HDL cholesterol concentration	2/6	OMIM:618885
2590	GALNT2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2590	GALNT2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2590	GALNT2	HP:0000286	Epicanthus	1/7	OMIM:615777
2590	GALNT2	HP:0000280	Coarse facial features	2/7	OMIM:615777
2590	GALNT2	HP:0000276	Long face	-	OMIM:618885
2590	GALNT2	HP:0002827	Hip dislocation	3/7	OMIM:615777
2590	GALNT2	HP:0000252	Microcephaly	2/7	OMIM:618885
2590	GALNT2	HP:0000252	Microcephaly	-	OMIM:615777
2590	GALNT2	HP:0000248	Brachycephaly	2/7	OMIM:618885
2590	GALNT2	HP:0002857	Genu valgum	-	OMIM:131300
2590	GALNT2	HP:0001533	Slender build	-	OMIM:131300
2590	GALNT2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2590	GALNT2	HP:0007807	Optic nerve compression	-	OMIM:131300
2590	GALNT2	HP:0012368	Flat face	7/7	OMIM:615777
2590	GALNT2	HP:0012358	Abnormal protein O-linked glycosylation	7/7	OMIM:618885
2590	GALNT2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2590	GALNT2	HP:0000365	Hearing impairment	10/67	OMIM:131300
2590	GALNT2	HP:0000358	Posteriorly rotated ears	7/7	OMIM:618885
2590	GALNT2	HP:0000369	Low-set ears	7/7	OMIM:618885
2590	GALNT2	HP:0000343	Long philtrum	1/7	OMIM:615777
2590	GALNT2	HP:0011001	Increased bone mineral density	-	OMIM:131300
2590	GALNT2	HP:0000348	High forehead	-	OMIM:618885
2590	GALNT2	HP:0000316	Hypertelorism	-	OMIM:618885
2590	GALNT2	HP:0000311	Round face	2/7	OMIM:615777
2590	GALNT2	HP:0000322	Short philtrum	-	OMIM:618885
2590	GALNT2	HP:0002970	Genu varum	-	OMIM:615777
2590	GALNT2	HP:0000303	Mandibular prognathia	-	OMIM:131300
2590	GALNT2	HP:0000405	Conductive hearing impairment	1/7	OMIM:618885
2590	GALNT2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2590	GALNT2	HP:0000483	Astigmatism	1/7	OMIM:618885
2590	GALNT2	HP:0012471	Thick vermilion border	-	OMIM:618885
2590	GALNT2	HP:0000494	Downslanted palpebral fissures	-	OMIM:618885
2590	GALNT2	HP:0000470	Short neck	1/7	OMIM:615777
2590	GALNT2	HP:0001773	Short foot	-	OMIM:618885
2590	GALNT2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2590	GALNT2	HP:0001763	Pes planus	1/7	OMIM:615777
2590	GALNT2	HP:0000426	Prominent nasal bridge	-	OMIM:618885
2590	GALNT2	HP:0031717	Alternating exotropia	1/7	OMIM:618885
2590	GALNT2	HP:0001840	Metatarsus adductus	-	OMIM:615777
2590	GALNT2	HP:0001852	Sandal gap	-	OMIM:618885
2590	GALNT2	HP:0000520	Proptosis	2/4	OMIM:131300
2590	GALNT2	HP:0000520	Proptosis	7/7	OMIM:615777
2590	GALNT2	HP:0000592	Blue sclerae	2/7	OMIM:615777
2590	GALNT2	HP:0001891	Iron deficiency anemia	-	OMIM:618885
2590	GALNT2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2590	GALNT2	HP:0012514	Lower limb pain	4/4	OMIM:131300
2591	GALNT3	HP:0003771	Pulp calcification	-	OMIM:211900
2591	GALNT3	HP:0001102	Angioid streaks of the fundus	-	OMIM:211900
2591	GALNT3	HP:0003761	Calcinosis	3/5	OMIM:211900
2591	GALNT3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2591	GALNT3	HP:0001293	Cranial nerve compression	-	OMIM:131300
2591	GALNT3	HP:0001252	Hypotonia	2/7	OMIM:615777
2591	GALNT3	HP:0001249	Intellectual disability	5/7	OMIM:615777
2591	GALNT3	HP:0001263	Global developmental delay	-	OMIM:615777
2591	GALNT3	HP:0002515	Waddling gait	54/102	OMIM:131300
2591	GALNT3	HP:0001382	Joint hypermobility	-	OMIM:615777
2591	GALNT3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2591	GALNT3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2591	GALNT3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2591	GALNT3	HP:0001324	Muscle weakness	40/96	OMIM:131300
2591	GALNT3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2591	GALNT3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2591	GALNT3	HP:0000007	Autosomal recessive inheritance	-	OMIM:211900
2591	GALNT3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2591	GALNT3	HP:0002650	Scoliosis	12/14	OMIM:131300
2591	GALNT3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2591	GALNT3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2591	GALNT3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2591	GALNT3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2591	GALNT3	HP:0000175	Cleft palate	2/7	OMIM:615777
2591	GALNT3	HP:0006297	Enamel hypoplasia	-	OMIM:211900
2591	GALNT3	HP:0000121	Nephrocalcinosis	-	OMIM:211900
2591	GALNT3	HP:0003388	Easy fatigability	36/76	OMIM:131300
2591	GALNT3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2591	GALNT3	HP:0100774	Hyperostosis	2/2	OMIM:211900
2591	GALNT3	HP:0003510	Severe short stature	7/7	OMIM:615777
2591	GALNT3	HP:0002315	Headache	-	OMIM:131300
2591	GALNT3	HP:0004976	Knee dislocation	6/7	OMIM:615777
2591	GALNT3	HP:0009803	Short phalanx of finger	-	OMIM:615777
2591	GALNT3	HP:0009763	Limb pain	63/92	OMIM:131300
2591	GALNT3	HP:0004934	Vascular calcification	-	OMIM:211900
2591	GALNT3	HP:0003621	Juvenile onset	2/2	OMIM:211900
2591	GALNT3	HP:0003621	Juvenile onset	-	OMIM:131300
2591	GALNT3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2591	GALNT3	HP:0005572	Decreased renal tubular phosphate excretion	-	OMIM:211900
2591	GALNT3	HP:0005571	Increased renal tubular phosphate reabsorption	-	OMIM:211900
2591	GALNT3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2591	GALNT3	HP:6001056	Out-toeing	-	OMIM:131300
2591	GALNT3	HP:0000651	Diplopia	-	OMIM:131300
2591	GALNT3	HP:0001956	Truncal obesity	2/7	OMIM:615777
2591	GALNT3	HP:0001903	Anemia	HP:0040283	OMIM:131300
2591	GALNT3	HP:0010049	Short metacarpal	-	OMIM:615777
2591	GALNT3	HP:0000679	Taurodontia	-	OMIM:211900
2591	GALNT3	HP:0000678	Dental crowding	-	OMIM:615777
2591	GALNT3	HP:0000670	Carious teeth	-	OMIM:131300
2591	GALNT3	HP:0011304	Broad thumb	2/7	OMIM:615777
2591	GALNT3	HP:0000668	Hypodontia	-	OMIM:615777
2591	GALNT3	HP:0000664	Synophrys	-	OMIM:615777
2591	GALNT3	HP:0003072	Hypercalcemia	0/2	OMIM:211900
2591	GALNT3	HP:0004396	Poor appetite	-	OMIM:131300
2591	GALNT3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2591	GALNT3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2591	GALNT3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2591	GALNT3	HP:0003026	Short long bone	7/7	OMIM:615777
2591	GALNT3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2591	GALNT3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2591	GALNT3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2591	GALNT3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2591	GALNT3	HP:0000750	Delayed speech and language development	-	OMIM:615777
2591	GALNT3	HP:0011461	Fetal onset	7/7	OMIM:615777
2591	GALNT3	HP:0000774	Narrow chest	2/7	OMIM:615777
2591	GALNT3	HP:0000926	Platyspondyly	1/7	OMIM:615777
2591	GALNT3	HP:0003180	Flat acetabular roof	-	OMIM:615777
2591	GALNT3	HP:0003155	Elevated circulating alkaline phosphatase concentration	0/2	OMIM:211900
2591	GALNT3	HP:0004482	Relative macrocephaly	-	OMIM:615777
2591	GALNT3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2591	GALNT3	HP:0000843	Hyperparathyroidism	0/2	OMIM:211900
2591	GALNT3	HP:0000823	Delayed puberty	-	OMIM:131300
2591	GALNT3	HP:0000894	Short clavicles	-	OMIM:615777
2591	GALNT3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2591	GALNT3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2591	GALNT3	HP:0000286	Epicanthus	1/7	OMIM:615777
2591	GALNT3	HP:0000280	Coarse facial features	2/7	OMIM:615777
2591	GALNT3	HP:0031415	High serum calcitriol	5/5	OMIM:211900
2591	GALNT3	HP:0007799	Conjunctival whitish salt-like deposits	-	OMIM:211900
2591	GALNT3	HP:0002827	Hip dislocation	3/7	OMIM:615777
2591	GALNT3	HP:0000252	Microcephaly	-	OMIM:615777
2591	GALNT3	HP:0002857	Genu valgum	-	OMIM:131300
2591	GALNT3	HP:0001533	Slender build	-	OMIM:131300
2591	GALNT3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2591	GALNT3	HP:0007807	Optic nerve compression	-	OMIM:131300
2591	GALNT3	HP:0012368	Flat face	7/7	OMIM:615777
2591	GALNT3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2591	GALNT3	HP:0002905	Hyperphosphatemia	7/7	OMIM:211900
2591	GALNT3	HP:0000365	Hearing impairment	10/67	OMIM:131300
2591	GALNT3	HP:0000343	Long philtrum	1/7	OMIM:615777
2591	GALNT3	HP:0011001	Increased bone mineral density	-	OMIM:131300
2591	GALNT3	HP:0000311	Round face	2/7	OMIM:615777
2591	GALNT3	HP:0031485	Subperiosteal bone formation	-	OMIM:211900
2591	GALNT3	HP:0002970	Genu varum	-	OMIM:615777
2591	GALNT3	HP:0000303	Mandibular prognathia	-	OMIM:131300
2591	GALNT3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2591	GALNT3	HP:0000470	Short neck	1/7	OMIM:615777
2591	GALNT3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2591	GALNT3	HP:0001763	Pes planus	1/7	OMIM:615777
2591	GALNT3	HP:0001840	Metatarsus adductus	-	OMIM:615777
2591	GALNT3	HP:0000520	Proptosis	2/4	OMIM:131300
2591	GALNT3	HP:0000520	Proptosis	7/7	OMIM:615777
2591	GALNT3	HP:0000592	Blue sclerae	2/7	OMIM:615777
2591	GALNT3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2591	GALNT3	HP:0012514	Lower limb pain	4/4	OMIM:131300
2592	GALT	HP:0001298	Encephalopathy	HP:0040283	ORPHA:79239
2592	GALT	HP:0001290	Generalized hypotonia	1/1	OMIM:230400
2592	GALT	HP:0100806	Sepsis	HP:0040283	ORPHA:79239
2592	GALT	HP:0001268	Mental deterioration	HP:0040282	ORPHA:79239
2592	GALT	HP:0001288	Gait disturbance	HP:0040283	ORPHA:79239
2592	GALT	HP:0001254	Lethargy	HP:0040283	ORPHA:79239
2592	GALT	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:79239
2592	GALT	HP:0001250	Seizure	HP:0040283	ORPHA:79239
2592	GALT	HP:0001251	Ataxia	HP:0040283	ORPHA:79239
2592	GALT	HP:0001249	Intellectual disability	-	OMIM:230400
2592	GALT	HP:0001260	Dysarthria	HP:0040283	ORPHA:79239
2592	GALT	HP:0001263	Global developmental delay	HP:0040282	ORPHA:79239
2592	GALT	HP:0001399	Hepatic failure	HP:0040282	ORPHA:79239
2592	GALT	HP:0001394	Cirrhosis	-	OMIM:230400
2592	GALT	HP:0012023	Galactosuria	-	OMIM:230400
2592	GALT	HP:0012024	Hypergalactosemia	2/3	OMIM:230400
2592	GALT	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:79239
2592	GALT	HP:0001332	Dystonia	HP:0040283	ORPHA:79239
2592	GALT	HP:0001328	Specific learning disability	HP:0040282	ORPHA:79239
2592	GALT	HP:0000007	Autosomal recessive inheritance	-	OMIM:230400
2592	GALT	HP:0410064	Increased level of galactitol in red blood cells	-	OMIM:230400
2592	GALT	HP:0410062	Increased level of galactitol in urine	-	OMIM:230400
2592	GALT	HP:0410063	Increased level of galactonate in red blood cells	-	OMIM:230400
2592	GALT	HP:0410061	Increased level of galactitol in plasma	20/20	OMIM:230400
2592	GALT	HP:0001410	Decreased liver function	-	OMIM:230400
2592	GALT	HP:0003355	Aminoaciduria	-	OMIM:230400
2592	GALT	HP:0002014	Diarrhea	-	OMIM:230400
2592	GALT	HP:0002014	Diarrhea	HP:0040283	ORPHA:79239
2592	GALT	HP:0002013	Vomiting	1/1	OMIM:230400
2592	GALT	HP:0002013	Vomiting	HP:0040282	ORPHA:79239
2592	GALT	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:230400
2592	GALT	HP:0100512	Decreased circulating vitamin D concentration	HP:0040283	ORPHA:79239
2592	GALT	HP:0002141	Gait imbalance	HP:0040283	ORPHA:79239
2592	GALT	HP:0002174	Postural tremor	HP:0040282	ORPHA:79239
2592	GALT	HP:0008209	Premature ovarian insufficiency	-	OMIM:230400
2592	GALT	HP:0008209	Premature ovarian insufficiency	HP:0040282	ORPHA:79239
2592	GALT	HP:0002240	Hepatomegaly	-	OMIM:230400
2592	GALT	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:79239
2592	GALT	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:79239
2592	GALT	HP:0011968	Feeding difficulties	1/1	OMIM:230400
2592	GALT	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:79239
2592	GALT	HP:0002345	Action tremor	HP:0040282	ORPHA:79239
2592	GALT	HP:0020110	Bone fracture	HP:0040283	ORPHA:79239
2592	GALT	HP:0003623	Neonatal onset	1/1	OMIM:230400
2592	GALT	HP:0002311	Incoordination	HP:0040283	ORPHA:79239
2592	GALT	HP:0002312	Clumsiness	HP:0040283	ORPHA:79239
2592	GALT	HP:0004918	Hyperchloremic metabolic acidosis	-	OMIM:230400
2592	GALT	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:79239
2592	GALT	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:79239
2592	GALT	HP:0001942	Metabolic acidosis	-	OMIM:230400
2592	GALT	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:79239
2592	GALT	HP:0006977	Deficit in grammar	HP:0040282	ORPHA:79239
2592	GALT	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/2	OMIM:230400
2592	GALT	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/2	OMIM:230400
2592	GALT	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:79239
2592	GALT	HP:0000739	Anxiety	HP:0040283	ORPHA:79239
2592	GALT	HP:0000750	Delayed speech and language development	1/1	OMIM:230400
2592	GALT	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:79239
2592	GALT	HP:0000716	Depression	HP:0040283	ORPHA:79239
2592	GALT	HP:0000729	Autistic behavior	HP:0040283	ORPHA:79239
2592	GALT	HP:0000707	Abnormality of the nervous system	HP:0040281	ORPHA:79239
2592	GALT	HP:0011446	Abnormality of mental function	HP:0040283	ORPHA:79239
2592	GALT	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:79239
2592	GALT	HP:4000208	Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity	1/1	OMIM:230400
2592	GALT	HP:0000876	Oligomenorrhea	HP:0040282	ORPHA:79239
2592	GALT	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:79239
2592	GALT	HP:0000868	Decreased fertility in females	HP:0040282	ORPHA:79239
2592	GALT	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:230400
2592	GALT	HP:0000823	Delayed puberty	HP:0040282	ORPHA:79239
2592	GALT	HP:0003251	Male infertility	HP:0040281	ORPHA:79239
2592	GALT	HP:0000952	Jaundice	1/1	OMIM:230400
2592	GALT	HP:0000952	Jaundice	HP:0040282	ORPHA:79239
2592	GALT	HP:0000939	Osteoporosis	HP:0040283	ORPHA:79239
2592	GALT	HP:0001541	Ascites	HP:0040284	ORPHA:79239
2592	GALT	HP:0001508	Failure to thrive	-	OMIM:230400
2592	GALT	HP:0011098	Speech apraxia	HP:0040283	ORPHA:79239
2592	GALT	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:79239
2592	GALT	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:79239
2592	GALT	HP:0030272	Abnormal erythrocyte enzyme concentration or activity	HP:0040281	ORPHA:79239
2592	GALT	HP:0000518	Cataract	1/2	OMIM:230400
2592	GALT	HP:0000518	Cataract	HP:0040282	ORPHA:79239
2592	GALT	HP:0012592	Albuminuria	-	OMIM:230400
2592	GALT	HP:0030353	Decreased serum insulin-like growth factor 1	HP:0040282	ORPHA:79239
2592	GALT	HP:0012537	Food intolerance	HP:0040282	ORPHA:79239
2592	GALT	HP:0001878	Hemolytic anemia	-	OMIM:230400
2593	GAMT	HP:0002465	Poor speech	HP:0040282	ORPHA:382
2593	GAMT	HP:0002457	Abnormal head movements	HP:0040283	ORPHA:382
2593	GAMT	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:382
2593	GAMT	HP:0010864	Intellectual disability, severe	5/5	OMIM:612736
2593	GAMT	HP:0001276	Hypertonia	11/15	OMIM:612736
2593	GAMT	HP:0001250	Seizure	HP:0040281	ORPHA:382
2593	GAMT	HP:0001250	Seizure	11/15	OMIM:612736
2593	GAMT	HP:0001252	Hypotonia	HP:0040284	ORPHA:382
2593	GAMT	HP:0001252	Hypotonia	2/2	OMIM:612736
2593	GAMT	HP:0001251	Ataxia	HP:0040283	ORPHA:382
2593	GAMT	HP:0001251	Ataxia	11/15	OMIM:612736
2593	GAMT	HP:0001249	Intellectual disability	-	OMIM:612736
2593	GAMT	HP:0001263	Global developmental delay	-	OMIM:612736
2593	GAMT	HP:0002572	Episodic vomiting	1/5	OMIM:612736
2593	GAMT	HP:6000722	Reduced tissue guanidinoacetate methyltransferase activity	4/4	OMIM:612736
2593	GAMT	HP:6000748	Decreased urinary creatine level	-	OMIM:612736
2593	GAMT	HP:0001347	Hyperreflexia	-	OMIM:612736
2593	GAMT	HP:0001332	Dystonia	HP:0040283	ORPHA:382
2593	GAMT	HP:0001344	Absent speech	2/5	OMIM:612736
2593	GAMT	HP:0000007	Autosomal recessive inheritance	-	OMIM:612736
2593	GAMT	HP:0001337	Tremor	1/5	OMIM:612736
2593	GAMT	HP:0001336	Myoclonus	-	OMIM:612736
2593	GAMT	HP:0008947	Floppy infant	-	OMIM:612736
2593	GAMT	HP:0012101	Decreased serum creatinine	2/2	OMIM:612736
2593	GAMT	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:382
2593	GAMT	HP:0002069	Bilateral tonic-clonic seizure	1/5	OMIM:612736
2593	GAMT	HP:0002063	Rigidity	2/5	OMIM:612736
2593	GAMT	HP:0002061	Lower limb spasticity	1/5	OMIM:612736
2593	GAMT	HP:0002072	Chorea	HP:0040283	ORPHA:382
2593	GAMT	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:382
2593	GAMT	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:382
2593	GAMT	HP:0003593	Infantile onset	2/2	OMIM:612736
2593	GAMT	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:382
2593	GAMT	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:382
2593	GAMT	HP:0002385	Paraparesis	1/5	OMIM:612736
2593	GAMT	HP:0002376	Developmental regression	1/5	OMIM:612736
2593	GAMT	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/5	OMIM:612736
2593	GAMT	HP:6000484	Elevated brain guanidinoacetate level by MRS	1/1	OMIM:612736
2593	GAMT	HP:0010819	Atonic seizure	HP:0040283	ORPHA:382
2593	GAMT	HP:0010819	Atonic seizure	2/5	OMIM:612736
2593	GAMT	HP:0025051	Reduced brain creatine level by MRS	-	OMIM:612736
2593	GAMT	HP:0007153	Progressive extrapyramidal movement disorder	HP:0040282	ORPHA:382
2593	GAMT	HP:0007153	Progressive extrapyramidal movement disorder	-	OMIM:612736
2593	GAMT	HP:0002305	Athetosis	HP:0040283	ORPHA:382
2593	GAMT	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:382
2593	GAMT	HP:0011344	Severe global developmental delay	7/7	OMIM:612736
2593	GAMT	HP:0000752	Hyperactivity	HP:0040283	ORPHA:382
2593	GAMT	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:382
2593	GAMT	HP:0000750	Delayed speech and language development	15/15	OMIM:612736
2593	GAMT	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:382
2593	GAMT	HP:0000718	Aggressive behavior	2/5	OMIM:612736
2593	GAMT	HP:0000717	Autism	HP:0040283	ORPHA:382
2593	GAMT	HP:0000708	Atypical behavior	HP:0040282	ORPHA:382
2593	GAMT	HP:0034321	Elevated circulating guanidinoacetic acid concentration	4/4	OMIM:612736
2615	LRRC32	HP:0001290	Generalized hypotonia	3/3	OMIM:619074
2615	LRRC32	HP:0001263	Global developmental delay	3/3	OMIM:619074
2615	LRRC32	HP:0001338	Partial agenesis of the corpus callosum	1/3	OMIM:619074
2615	LRRC32	HP:0000007	Autosomal recessive inheritance	-	OMIM:619074
2615	LRRC32	HP:0001320	Cerebellar vermis hypoplasia	1/3	OMIM:619074
2615	LRRC32	HP:0000175	Cleft palate	3/3	OMIM:619074
2615	LRRC32	HP:0008936	Axial hypotonia	1/3	OMIM:619074
2615	LRRC32	HP:0011800	Midface retrusion	1/3	OMIM:619074
2615	LRRC32	HP:0002119	Ventriculomegaly	3/3	OMIM:619074
2615	LRRC32	HP:0010535	Sleep apnea	2/2	OMIM:619074
2615	LRRC32	HP:0002389	Cavum septum pellucidum	1/3	OMIM:619074
2615	LRRC32	HP:0001047	Atopic dermatitis	2/2	OMIM:619074
2615	LRRC32	HP:0030666	Retinal neovascularization	3/3	OMIM:619074
2615	LRRC32	HP:0031936	Delayed ability to walk	3/3	OMIM:619074
2615	LRRC32	HP:0000750	Delayed speech and language development	3/3	OMIM:619074
2615	LRRC32	HP:0001511	Intrauterine growth retardation	3/3	OMIM:619074
2615	LRRC32	HP:0000365	Hearing impairment	2/3	OMIM:619074
2615	LRRC32	HP:0000347	Micrognathia	1/3	OMIM:619074
2615	LRRC32	HP:0000322	Short philtrum	1/3	OMIM:619074
2615	LRRC32	HP:0000486	Strabismus	1/3	OMIM:619074
2615	LRRC32	HP:0000545	Myopia	3/3	OMIM:619074
2617	GARS1	HP:0002495	Impaired vibratory sensation	HP:0040282	ORPHA:139536
2617	GARS1	HP:0002460	Distal muscle weakness	1/1	OMIM:619042
2617	GARS1	HP:0002460	Distal muscle weakness	-	OMIM:601472
2617	GARS1	HP:0002460	Distal muscle weakness	20/20	OMIM:600794
2617	GARS1	HP:0001290	Generalized hypotonia	2/2	OMIM:619042
2617	GARS1	HP:0001270	Motor delay	2/2	OMIM:619042
2617	GARS1	HP:0001284	Areflexia	3/3	OMIM:619042
2617	GARS1	HP:0001265	Hyporeflexia	-	OMIM:601472
2617	GARS1	HP:0007340	Lower limb muscle weakness	1/1	OMIM:619042
2617	GARS1	HP:0003803	Type 1 muscle fiber predominance	1/1	OMIM:619042
2617	GARS1	HP:0001347	Hyperreflexia	HP:0040283	OMIM:600794
2617	GARS1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:139536
2617	GARS1	HP:0001324	Muscle weakness	2/2	OMIM:619042
2617	GARS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:601472
2617	GARS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:600794
2617	GARS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619042
2617	GARS1	HP:0002650	Scoliosis	-	OMIM:601472
2617	GARS1	HP:0002650	Scoliosis	2/3	OMIM:619042
2617	GARS1	HP:0002093	Respiratory insufficiency	1/1	OMIM:619042
2617	GARS1	HP:0003392	First dorsal interossei muscle weakness	-	OMIM:600794
2617	GARS1	HP:0003392	First dorsal interossei muscle weakness	HP:0040282	ORPHA:139536
2617	GARS1	HP:0003392	First dorsal interossei muscle weakness	-	OMIM:601472
2617	GARS1	HP:0003393	Thenar muscle atrophy	-	OMIM:600794
2617	GARS1	HP:0003393	Thenar muscle atrophy	HP:0040282	ORPHA:139536
2617	GARS1	HP:0003393	Thenar muscle atrophy	-	OMIM:601472
2617	GARS1	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:139536
2617	GARS1	HP:0003484	Upper limb muscle weakness	-	OMIM:600794
2617	GARS1	HP:0003484	Upper limb muscle weakness	-	OMIM:601472
2617	GARS1	HP:0003426	First dorsal interossei muscle atrophy	-	OMIM:600794
2617	GARS1	HP:0003426	First dorsal interossei muscle atrophy	HP:0040282	ORPHA:139536
2617	GARS1	HP:0003426	First dorsal interossei muscle atrophy	-	OMIM:601472
2617	GARS1	HP:0003427	Thenar muscle weakness	-	OMIM:600794
2617	GARS1	HP:0003427	Thenar muscle weakness	HP:0040282	ORPHA:139536
2617	GARS1	HP:0003427	Thenar muscle weakness	-	OMIM:601472
2617	GARS1	HP:0003435	Cold-induced hand cramps	-	OMIM:600794
2617	GARS1	HP:0003435	Cold-induced hand cramps	HP:0040282	ORPHA:139536
2617	GARS1	HP:0003435	Cold-induced hand cramps	-	OMIM:601472
2617	GARS1	HP:0002172	Postural instability	-	OMIM:601472
2617	GARS1	HP:0010546	Muscle fibrillation	1/1	OMIM:619042
2617	GARS1	HP:0003593	Infantile onset	3/3	OMIM:619042
2617	GARS1	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:619042
2617	GARS1	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:139536
2617	GARS1	HP:0003693	Distal amyotrophy	1/1	OMIM:619042
2617	GARS1	HP:0003693	Distal amyotrophy	-	OMIM:600794
2617	GARS1	HP:0003693	Distal amyotrophy	20/20	OMIM:601472
2617	GARS1	HP:0003677	Slowly progressive	-	OMIM:600794
2617	GARS1	HP:0003677	Slowly progressive	-	OMIM:601472
2617	GARS1	HP:0002317	Unsteady gait	HP:0040282	ORPHA:139536
2617	GARS1	HP:0009830	Peripheral neuropathy	-	OMIM:600794
2617	GARS1	HP:0007178	Motor polyneuropathy	HP:0040282	ORPHA:139536
2617	GARS1	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:139536
2617	GARS1	HP:0004322	Short stature	2/2	OMIM:619042
2617	GARS1	HP:0031936	Delayed ability to walk	1/1	OMIM:619042
2617	GARS1	HP:0011462	Young adult onset	-	OMIM:601472
2617	GARS1	HP:0011462	Young adult onset	-	OMIM:600794
2617	GARS1	HP:0009129	Upper limb amyotrophy	-	OMIM:600794
2617	GARS1	HP:0009129	Upper limb amyotrophy	-	OMIM:601472
2617	GARS1	HP:0003273	Hip contracture	1/1	OMIM:619042
2617	GARS1	HP:0040131	Abnormal motor nerve conduction velocity	HP:0040284	ORPHA:139536
2617	GARS1	HP:0008081	Pes valgus	HP:0040283	ORPHA:139536
2617	GARS1	HP:0002938	Lumbar hyperlordosis	3/3	OMIM:619042
2617	GARS1	HP:0002936	Distal sensory impairment	-	OMIM:601472
2617	GARS1	HP:0001621	Weak voice	1/1	OMIM:619042
2617	GARS1	HP:0001763	Pes planus	HP:0040283	OMIM:600794
2617	GARS1	HP:0001765	Hammertoe	HP:0040283	ORPHA:139536
2617	GARS1	HP:0001765	Hammertoe	HP:0040283	OMIM:600794
2617	GARS1	HP:0001765	Hammertoe	-	OMIM:601472
2617	GARS1	HP:0001761	Pes cavus	-	OMIM:601472
2617	GARS1	HP:0001761	Pes cavus	HP:0040283	OMIM:600794
2617	GARS1	HP:0001761	Pes cavus	HP:0040283	ORPHA:139536
2619	GAS1	HP:0002465	Poor speech	HP:0040283	ORPHA:93926
2619	GAS1	HP:0002465	Poor speech	HP:0040282	ORPHA:93924
2619	GAS1	HP:0002465	Poor speech	HP:0040283	ORPHA:93925
2619	GAS1	HP:0002465	Poor speech	HP:0040283	ORPHA:220386
2619	GAS1	HP:0002474	Expressive language delay	HP:0040282	ORPHA:280195
2619	GAS1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:220386
2619	GAS1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93926
2619	GAS1	HP:0002451	Limb dystonia	HP:0040283	ORPHA:93924
2619	GAS1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93925
2619	GAS1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:220386
2619	GAS1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93926
2619	GAS1	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:93924
2619	GAS1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93925
2619	GAS1	HP:0009932	Single naris	HP:0040283	ORPHA:220386
2619	GAS1	HP:0009932	Single naris	HP:0040283	ORPHA:93926
2619	GAS1	HP:0009932	Single naris	HP:0040284	ORPHA:93924
2619	GAS1	HP:0009932	Single naris	HP:0040283	ORPHA:93925
2619	GAS1	HP:0009914	Cyclopia	HP:0040283	ORPHA:280200
2619	GAS1	HP:0009914	Cyclopia	HP:0040283	ORPHA:220386
2619	GAS1	HP:0009914	Cyclopia	HP:0040283	ORPHA:93926
2619	GAS1	HP:0009914	Cyclopia	HP:0040284	ORPHA:93924
2619	GAS1	HP:0009914	Cyclopia	HP:0040283	ORPHA:93925
2619	GAS1	HP:0002418	Abnormal midbrain morphology	HP:0040282	ORPHA:280195
2619	GAS1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:280195
2619	GAS1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280200
2619	GAS1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93926
2619	GAS1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93924
2619	GAS1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93925
2619	GAS1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220386
2619	GAS1	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:280195
2619	GAS1	HP:0001254	Lethargy	HP:0040282	ORPHA:93926
2619	GAS1	HP:0001254	Lethargy	HP:0040283	ORPHA:93924
2619	GAS1	HP:0001254	Lethargy	HP:0040282	ORPHA:93925
2619	GAS1	HP:0001254	Lethargy	HP:0040282	ORPHA:220386
2619	GAS1	HP:0001250	Seizure	HP:0040282	ORPHA:220386
2619	GAS1	HP:0001250	Seizure	HP:0040283	ORPHA:280200
2619	GAS1	HP:0001250	Seizure	HP:0040282	ORPHA:93926
2619	GAS1	HP:0001250	Seizure	HP:0040283	ORPHA:93924
2619	GAS1	HP:0001250	Seizure	HP:0040282	ORPHA:93925
2619	GAS1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280195
2619	GAS1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:220386
2619	GAS1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280200
2619	GAS1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93926
2619	GAS1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93924
2619	GAS1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93925
2619	GAS1	HP:0001257	Spasticity	HP:0040282	ORPHA:93926
2619	GAS1	HP:0001257	Spasticity	HP:0040283	ORPHA:93924
2619	GAS1	HP:0001257	Spasticity	HP:0040282	ORPHA:93925
2619	GAS1	HP:0001257	Spasticity	HP:0040282	ORPHA:220386
2619	GAS1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:280200
2619	GAS1	HP:0007375	Abnormal septum pellucidum morphology	HP:0040283	ORPHA:280195
2619	GAS1	HP:0007330	Frontoethmoidal encephalocele	HP:0040283	ORPHA:280195
2619	GAS1	HP:0002540	Inability to walk	HP:0040282	ORPHA:93926
2619	GAS1	HP:0002540	Inability to walk	HP:0040284	ORPHA:93924
2619	GAS1	HP:0002540	Inability to walk	HP:0040282	ORPHA:93925
2619	GAS1	HP:0002540	Inability to walk	HP:0040282	ORPHA:220386
2619	GAS1	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:280200
2619	GAS1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93926
2619	GAS1	HP:0001371	Flexion contracture	HP:0040284	ORPHA:93924
2619	GAS1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93925
2619	GAS1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:220386
2619	GAS1	HP:0001355	Megalencephaly	HP:0040283	ORPHA:280195
2619	GAS1	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:280200
2619	GAS1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93926
2619	GAS1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93924
2619	GAS1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93925
2619	GAS1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:280195
2619	GAS1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:220386
2619	GAS1	HP:0001344	Absent speech	HP:0040282	ORPHA:93926
2619	GAS1	HP:0001344	Absent speech	HP:0040284	ORPHA:93924
2619	GAS1	HP:0001344	Absent speech	HP:0040282	ORPHA:93925
2619	GAS1	HP:0001344	Absent speech	HP:0040282	ORPHA:220386
2619	GAS1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93926
2619	GAS1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93924
2619	GAS1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93925
2619	GAS1	HP:0002650	Scoliosis	HP:0040283	ORPHA:220386
2619	GAS1	HP:0002650	Scoliosis	HP:0040283	ORPHA:280200
2619	GAS1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93926
2619	GAS1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:93924
2619	GAS1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93925
2619	GAS1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:220386
2619	GAS1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:220386
2619	GAS1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93926
2619	GAS1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93924
2619	GAS1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93925
2619	GAS1	HP:0000175	Cleft palate	HP:0040283	ORPHA:280200
2619	GAS1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93926
2619	GAS1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93924
2619	GAS1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93925
2619	GAS1	HP:0000175	Cleft palate	HP:0040282	ORPHA:220386
2619	GAS1	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:280200
2619	GAS1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:220386
2619	GAS1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93926
2619	GAS1	HP:0006315	Solitary median maxillary central incisor	HP:0040284	ORPHA:93924
2619	GAS1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93925
2619	GAS1	HP:0008947	Floppy infant	HP:0040282	ORPHA:93926
2619	GAS1	HP:0008947	Floppy infant	HP:0040283	ORPHA:93924
2619	GAS1	HP:0008947	Floppy infant	HP:0040282	ORPHA:93925
2619	GAS1	HP:0008947	Floppy infant	HP:0040282	ORPHA:220386
2619	GAS1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93926
2619	GAS1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93924
2619	GAS1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93925
2619	GAS1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:220386
2619	GAS1	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:280195
2619	GAS1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:220386
2619	GAS1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93926
2619	GAS1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93924
2619	GAS1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93925
2619	GAS1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:220386
2619	GAS1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93926
2619	GAS1	HP:0002793	Abnormal pattern of respiration	HP:0040283	ORPHA:93924
2619	GAS1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93925
2619	GAS1	HP:0000104	Renal agenesis	HP:0040283	ORPHA:280200
2619	GAS1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93926
2619	GAS1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93924
2619	GAS1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93925
2619	GAS1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220386
2619	GAS1	HP:0002019	Constipation	HP:0040282	ORPHA:93926
2619	GAS1	HP:0002019	Constipation	HP:0040282	ORPHA:93924
2619	GAS1	HP:0002019	Constipation	HP:0040282	ORPHA:93925
2619	GAS1	HP:0002019	Constipation	HP:0040282	ORPHA:220386
2619	GAS1	HP:0002033	Poor suck	HP:0040281	ORPHA:93926
2619	GAS1	HP:0002033	Poor suck	HP:0040282	ORPHA:93924
2619	GAS1	HP:0002033	Poor suck	HP:0040281	ORPHA:93925
2619	GAS1	HP:0002033	Poor suck	HP:0040281	ORPHA:220386
2619	GAS1	HP:0002015	Dysphagia	HP:0040282	ORPHA:93926
2619	GAS1	HP:0002015	Dysphagia	HP:0040283	ORPHA:93924
2619	GAS1	HP:0002015	Dysphagia	HP:0040282	ORPHA:93925
2619	GAS1	HP:0002015	Dysphagia	HP:0040283	ORPHA:280195
2619	GAS1	HP:0002015	Dysphagia	HP:0040282	ORPHA:220386
2619	GAS1	HP:0002013	Vomiting	HP:0040282	ORPHA:93926
2619	GAS1	HP:0002013	Vomiting	HP:0040283	ORPHA:93924
2619	GAS1	HP:0002013	Vomiting	HP:0040282	ORPHA:93925
2619	GAS1	HP:0002013	Vomiting	HP:0040282	ORPHA:220386
2619	GAS1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:220386
2619	GAS1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93926
2619	GAS1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040283	ORPHA:93924
2619	GAS1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93925
2619	GAS1	HP:0005968	Temperature instability	HP:0040282	ORPHA:220386
2619	GAS1	HP:0005968	Temperature instability	HP:0040282	ORPHA:93926
2619	GAS1	HP:0005968	Temperature instability	HP:0040283	ORPHA:93924
2619	GAS1	HP:0005968	Temperature instability	HP:0040282	ORPHA:93925
2619	GAS1	HP:0002099	Asthma	HP:0040283	ORPHA:280200
2619	GAS1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:220386
2619	GAS1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93926
2619	GAS1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93924
2619	GAS1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93925
2619	GAS1	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280195
2619	GAS1	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:280200
2619	GAS1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:220386
2619	GAS1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93926
2619	GAS1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93924
2619	GAS1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93925
2619	GAS1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93926
2619	GAS1	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:93924
2619	GAS1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93925
2619	GAS1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:220386
2619	GAS1	HP:0100710	Impulsivity	HP:0040282	ORPHA:280195
2619	GAS1	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:280200
2619	GAS1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:220386
2619	GAS1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93926
2619	GAS1	HP:0010654	Aplasia of the falx cerebri	HP:0040283	ORPHA:93924
2619	GAS1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93925
2619	GAS1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93926
2619	GAS1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93924
2619	GAS1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93925
2619	GAS1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:220386
2619	GAS1	HP:0010644	Midnasal stenosis	HP:0040281	ORPHA:280200
2619	GAS1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93926
2619	GAS1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93924
2619	GAS1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93925
2619	GAS1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:220386
2619	GAS1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:220386
2619	GAS1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93926
2619	GAS1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93924
2619	GAS1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93925
2619	GAS1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:220386
2619	GAS1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93926
2619	GAS1	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:93924
2619	GAS1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93925
2619	GAS1	HP:0001028	Hemangioma	HP:0040283	ORPHA:280200
2619	GAS1	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:280200
2619	GAS1	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:280200
2619	GAS1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:220386
2619	GAS1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93926
2619	GAS1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93924
2619	GAS1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93925
2619	GAS1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:280200
2619	GAS1	HP:0000601	Hypotelorism	HP:0040282	ORPHA:280200
2619	GAS1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93926
2619	GAS1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93924
2619	GAS1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93925
2619	GAS1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:220386
2619	GAS1	HP:0012650	Perisylvian polymicrogyria	HP:0040283	ORPHA:280195
2619	GAS1	HP:0004322	Short stature	HP:0040281	ORPHA:220386
2619	GAS1	HP:0004322	Short stature	HP:0040282	ORPHA:280200
2619	GAS1	HP:0004322	Short stature	HP:0040281	ORPHA:93926
2619	GAS1	HP:0004322	Short stature	HP:0040282	ORPHA:93924
2619	GAS1	HP:0004322	Short stature	HP:0040281	ORPHA:93925
2619	GAS1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:220386
2619	GAS1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93926
2619	GAS1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93924
2619	GAS1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93925
2619	GAS1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:280200
2619	GAS1	HP:0031913	Rhombencephalosynapsis	HP:0040283	ORPHA:280195
2619	GAS1	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:280195
2619	GAS1	HP:0000737	Irritability	HP:0040282	ORPHA:93926
2619	GAS1	HP:0000737	Irritability	HP:0040282	ORPHA:93924
2619	GAS1	HP:0000737	Irritability	HP:0040282	ORPHA:93925
2619	GAS1	HP:0000737	Irritability	HP:0040282	ORPHA:220386
2619	GAS1	HP:0000739	Anxiety	HP:0040282	ORPHA:93926
2619	GAS1	HP:0000739	Anxiety	HP:0040282	ORPHA:93924
2619	GAS1	HP:0000739	Anxiety	HP:0040282	ORPHA:93925
2619	GAS1	HP:0000739	Anxiety	HP:0040282	ORPHA:220386
2619	GAS1	HP:0000736	Short attention span	HP:0040282	ORPHA:280195
2619	GAS1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:220386
2619	GAS1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93926
2619	GAS1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93924
2619	GAS1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93925
2619	GAS1	HP:0000741	Apathy	HP:0040282	ORPHA:220386
2619	GAS1	HP:0000741	Apathy	HP:0040282	ORPHA:93926
2619	GAS1	HP:0000741	Apathy	HP:0040283	ORPHA:93924
2619	GAS1	HP:0000741	Apathy	HP:0040282	ORPHA:93925
2619	GAS1	HP:0000716	Depression	HP:0040282	ORPHA:93926
2619	GAS1	HP:0000716	Depression	HP:0040282	ORPHA:93924
2619	GAS1	HP:0000716	Depression	HP:0040282	ORPHA:93925
2619	GAS1	HP:0000716	Depression	HP:0040282	ORPHA:220386
2619	GAS1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93926
2619	GAS1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93924
2619	GAS1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93925
2619	GAS1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:220386
2619	GAS1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:280195
2619	GAS1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:220386
2619	GAS1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93926
2619	GAS1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93924
2619	GAS1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93925
2619	GAS1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:220386
2619	GAS1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93926
2619	GAS1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93924
2619	GAS1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93925
2619	GAS1	HP:0003196	Short nose	HP:0040283	ORPHA:280200
2619	GAS1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93926
2619	GAS1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93924
2619	GAS1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93925
2619	GAS1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:220386
2619	GAS1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:220386
2619	GAS1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93926
2619	GAS1	HP:0000873	Diabetes insipidus	HP:0040282	ORPHA:93924
2619	GAS1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93925
2619	GAS1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:280200
2619	GAS1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:220386
2619	GAS1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93926
2619	GAS1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93924
2619	GAS1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93925
2619	GAS1	HP:0000863	Central diabetes insipidus	HP:0040282	ORPHA:280195
2619	GAS1	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:280195
2619	GAS1	HP:0012806	Proboscis	HP:0040283	ORPHA:220386
2619	GAS1	HP:0012806	Proboscis	HP:0040283	ORPHA:93926
2619	GAS1	HP:0012806	Proboscis	HP:0040284	ORPHA:93924
2619	GAS1	HP:0012806	Proboscis	HP:0040283	ORPHA:93925
2619	GAS1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:220386
2619	GAS1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93926
2619	GAS1	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:93924
2619	GAS1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93925
2619	GAS1	HP:0000826	Precocious puberty	HP:0040282	ORPHA:280195
2619	GAS1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:280200
2619	GAS1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93926
2619	GAS1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93924
2619	GAS1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93925
2619	GAS1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:220386
2619	GAS1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:220386
2619	GAS1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93926
2619	GAS1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93924
2619	GAS1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93925
2619	GAS1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:220386
2619	GAS1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93926
2619	GAS1	HP:0045005	Neural tube defect	HP:0040284	ORPHA:93924
2619	GAS1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93925
2619	GAS1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:220386
2619	GAS1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93926
2619	GAS1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93924
2619	GAS1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93925
2619	GAS1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93926
2619	GAS1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93924
2619	GAS1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93925
2619	GAS1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:220386
2619	GAS1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93926
2619	GAS1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93924
2619	GAS1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93925
2619	GAS1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:220386
2619	GAS1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93926
2619	GAS1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93924
2619	GAS1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93925
2619	GAS1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220386
2619	GAS1	HP:0000252	Microcephaly	HP:0040283	ORPHA:280195
2619	GAS1	HP:0000252	Microcephaly	HP:0040282	ORPHA:220386
2619	GAS1	HP:0000252	Microcephaly	HP:0040282	ORPHA:280200
2619	GAS1	HP:0000252	Microcephaly	HP:0040282	ORPHA:93926
2619	GAS1	HP:0000252	Microcephaly	HP:0040283	ORPHA:93924
2619	GAS1	HP:0000252	Microcephaly	HP:0040282	ORPHA:93925
2619	GAS1	HP:0000218	High palate	HP:0040282	ORPHA:93926
2619	GAS1	HP:0000218	High palate	HP:0040282	ORPHA:93924
2619	GAS1	HP:0000218	High palate	HP:0040282	ORPHA:93925
2619	GAS1	HP:0000218	High palate	HP:0040282	ORPHA:220386
2619	GAS1	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:280195
2619	GAS1	HP:0002871	Central apnea	HP:0040282	ORPHA:220386
2619	GAS1	HP:0002871	Central apnea	HP:0040282	ORPHA:93926
2619	GAS1	HP:0002871	Central apnea	HP:0040283	ORPHA:93924
2619	GAS1	HP:0002871	Central apnea	HP:0040282	ORPHA:93925
2619	GAS1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:280200
2619	GAS1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93926
2619	GAS1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:93924
2619	GAS1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93925
2619	GAS1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:220386
2619	GAS1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:280200
2619	GAS1	HP:0001510	Growth delay	HP:0040281	ORPHA:93926
2619	GAS1	HP:0001510	Growth delay	HP:0040282	ORPHA:93924
2619	GAS1	HP:0001510	Growth delay	HP:0040281	ORPHA:93925
2619	GAS1	HP:0001510	Growth delay	HP:0040281	ORPHA:220386
2619	GAS1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:220386
2619	GAS1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93926
2619	GAS1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93924
2619	GAS1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93925
2619	GAS1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:280195
2619	GAS1	HP:0000322	Short philtrum	HP:0040282	ORPHA:280200
2619	GAS1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93926
2619	GAS1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93924
2619	GAS1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93925
2619	GAS1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:220386
2619	GAS1	HP:0001622	Premature birth	HP:0040282	ORPHA:280200
2619	GAS1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:280200
2619	GAS1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93926
2619	GAS1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93924
2619	GAS1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93925
2619	GAS1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:220386
2619	GAS1	HP:0000486	Strabismus	HP:0040283	ORPHA:280200
2619	GAS1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93926
2619	GAS1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:93924
2619	GAS1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93925
2619	GAS1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:220386
2619	GAS1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:280200
2619	GAS1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93926
2619	GAS1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93924
2619	GAS1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93925
2619	GAS1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:220386
2619	GAS1	HP:0000453	Choanal atresia	HP:0040281	ORPHA:280200
2619	GAS1	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:280200
2620	GAS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620877
2620	GAS2	HP:0003577	Congenital onset	2/4	OMIM:620877
2620	GAS2	HP:0001999	Abnormal facial shape	0/4	OMIM:620877
2620	GAS2	HP:0000750	Delayed speech and language development	4/4	OMIM:620877
2620	GAS2	HP:0011463	Childhood onset	2/4	OMIM:620877
2620	GAS2	HP:0000407	Sensorineural hearing impairment	4/4	OMIM:620877
2620	GAS2	HP:0001751	Abnormal vestibular function	0/3	OMIM:620877
2622	DRC4	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
2622	DRC4	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
2622	DRC4	HP:0001217	Clubbing	HP:0040283	ORPHA:244
2622	DRC4	HP:0000007	Autosomal recessive inheritance	-	OMIM:616726
2622	DRC4	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
2622	DRC4	HP:0002783	Recurrent lower respiratory tract infections	-	OMIM:616726
2622	DRC4	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
2622	DRC4	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
2622	DRC4	HP:0031245	Productive cough	HP:0040282	ORPHA:244
2622	DRC4	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
2622	DRC4	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
2622	DRC4	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
2622	DRC4	HP:0002110	Bronchiectasis	-	OMIM:616726
2622	DRC4	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
2622	DRC4	HP:0008222	Female infertility	HP:0040283	ORPHA:244
2622	DRC4	HP:0002257	Chronic rhinitis	-	OMIM:616726
2622	DRC4	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
2622	DRC4	HP:0100750	Atelectasis	-	OMIM:616726
2622	DRC4	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
2622	DRC4	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
2622	DRC4	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
2622	DRC4	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
2622	DRC4	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
2622	DRC4	HP:0012735	Cough	-	OMIM:616726
2622	DRC4	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
2622	DRC4	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
2622	DRC4	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
2622	DRC4	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
2622	DRC4	HP:0030828	Wheezing	HP:0040283	ORPHA:244
2622	DRC4	HP:0003251	Male infertility	HP:0040282	ORPHA:244
2622	DRC4	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
2622	DRC4	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
2622	DRC4	HP:0012265	Ciliary dyskinesia	-	OMIM:616726
2622	DRC4	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
2622	DRC4	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
2622	DRC4	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
2622	DRC4	HP:0002837	Recurrent bronchitis	-	OMIM:616726
2622	DRC4	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
2622	DRC4	HP:0006532	Recurrent pneumonia	-	OMIM:616726
2622	DRC4	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
2622	DRC4	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
2622	DRC4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
2622	DRC4	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
2622	DRC4	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
2622	DRC4	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
2622	DRC4	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
2622	DRC4	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
2622	DRC4	HP:0000403	Recurrent otitis media	-	OMIM:616726
2622	DRC4	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
2622	DRC4	HP:0000405	Conductive hearing impairment	-	OMIM:616726
2622	DRC4	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
2622	DRC4	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
2622	DRC4	HP:0001746	Asplenia	HP:0040284	ORPHA:244
2622	DRC4	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
2622	DRC4	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
2622	DRC4	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
2622	DRC4	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
2622	DRC4	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
2623	GATA1	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
2623	GATA1	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
2623	GATA1	HP:0008551	Microtia	HP:0040284	ORPHA:124
2623	GATA1	HP:0033536	Reduced platelet alpha granules	3/3	OMIM:314050
2623	GATA1	HP:0500115	Increased stool urobilinogen concentration	HP:0040281	ORPHA:79277
2623	GATA1	HP:0001254	Lethargy	HP:0040282	ORPHA:124
2623	GATA1	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
2623	GATA1	HP:0010972	Anemia of inadequate production	HP:0040281	ORPHA:67044
2623	GATA1	HP:0010972	Anemia of inadequate production	-	OMIM:300367
2623	GATA1	HP:0003828	Variable expressivity	-	OMIM:300367
2623	GATA1	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
2623	GATA1	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
2623	GATA1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:67044
2623	GATA1	HP:0007537	Severe photosensitivity	HP:0040281	ORPHA:79277
2623	GATA1	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
2623	GATA1	HP:0012187	Increased erythrocyte protoporphyrin concentration	HP:0040281	ORPHA:79277
2623	GATA1	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
2623	GATA1	HP:0012143	Abnormal megakaryocyte morphology	HP:0040281	ORPHA:67044
2623	GATA1	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	HP:0040281	ORPHA:67044
2623	GATA1	HP:0012132	Erythroid hyperplasia	1/1	OMIM:301083
2623	GATA1	HP:0012132	Erythroid hyperplasia	HP:0040283	ORPHA:79277
2623	GATA1	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
2623	GATA1	HP:0012135	Abnormal granulocytopoietic cell morphology	HP:0040283	OMIM:300835
2623	GATA1	HP:0002797	Osteolysis	HP:0040284	ORPHA:79277
2623	GATA1	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
2623	GATA1	HP:0500046	Seborrhoeic blepharitis	HP:0040284	ORPHA:79277
2623	GATA1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
2623	GATA1	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
2623	GATA1	HP:0001419	X-linked recessive inheritance	-	OMIM:300367
2623	GATA1	HP:0001419	X-linked recessive inheritance	-	OMIM:314050
2623	GATA1	HP:0001419	X-linked recessive inheritance	-	OMIM:301083
2623	GATA1	HP:0001419	X-linked recessive inheritance	-	OMIM:300835
2623	GATA1	HP:0040322	Purple urine	HP:0040282	ORPHA:79277
2623	GATA1	HP:0040320	Red-brown urine	HP:0040282	ORPHA:79277
2623	GATA1	HP:0100532	Scleritis	HP:0040284	ORPHA:79277
2623	GATA1	HP:0100512	Decreased circulating vitamin D concentration	HP:0040283	ORPHA:79277
2623	GATA1	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
2623	GATA1	HP:0010473	Porphyrinuria	HP:0040281	ORPHA:79277
2623	GATA1	HP:0010472	Abnormal circulating porphyrin concentration	HP:0040281	ORPHA:79277
2623	GATA1	HP:0011902	Abnormal hemoglobin	HP:0040281	ORPHA:231393
2623	GATA1	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
2623	GATA1	HP:0011877	Increased mean platelet volume	3/3	OMIM:314050
2623	GATA1	HP:0011869	Abnormal platelet function	HP:0040281	ORPHA:231393
2623	GATA1	HP:0003401	Paresthesia	HP:0040284	ORPHA:79277
2623	GATA1	HP:0008282	Unconjugated hyperbilirubinemia	HP:0040282	ORPHA:79277
2623	GATA1	HP:0003593	Infantile onset	-	OMIM:300367
2623	GATA1	HP:0003593	Infantile onset	-	OMIM:300835
2623	GATA1	HP:0002219	Facial hypertrichosis	HP:0040283	ORPHA:79277
2623	GATA1	HP:0003540	Impaired platelet aggregation	2/2	OMIM:300835
2623	GATA1	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
2623	GATA1	HP:0001030	Fragile skin	HP:0040281	ORPHA:79277
2623	GATA1	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:79277
2623	GATA1	HP:0001096	Keratoconjunctivitis	HP:0040284	ORPHA:79277
2623	GATA1	HP:0001072	Thickened skin	HP:0040282	ORPHA:79277
2623	GATA1	HP:0200041	Skin erosion	HP:0040282	ORPHA:79277
2623	GATA1	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
2623	GATA1	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
2623	GATA1	HP:0100699	Scarring	HP:0040282	ORPHA:79277
2623	GATA1	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
2623	GATA1	HP:0009778	Short thumb	HP:0040283	ORPHA:124
2623	GATA1	HP:0020181	Reduced haptoglobin level	HP:0040283	ORPHA:79277
2623	GATA1	HP:0005534	Transient myeloproliferative syndrome	-	OMIM:159595
2623	GATA1	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
2623	GATA1	HP:0005528	Bone marrow hypocellularity	5/8	OMIM:300835
2623	GATA1	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
2623	GATA1	HP:0001972	Macrocytic anemia	8/8	OMIM:300835
2623	GATA1	HP:0001974	Increased total leukocyte count	-	OMIM:159595
2623	GATA1	HP:0000618	Blindness	HP:0040284	ORPHA:79277
2623	GATA1	HP:0001927	Acanthocytosis	-	OMIM:300367
2623	GATA1	HP:0001923	Reticulocytosis	1/1	OMIM:301083
2623	GATA1	HP:0001923	Reticulocytosis	-	OMIM:314050
2623	GATA1	HP:0001923	Reticulocytosis	HP:0040283	ORPHA:79277
2623	GATA1	HP:0001934	Persistent bleeding after trauma	-	OMIM:300367
2623	GATA1	HP:0001931	Hypochromic anemia	HP:0040281	ORPHA:67044
2623	GATA1	HP:0001903	Anemia	HP:0040281	ORPHA:231393
2623	GATA1	HP:0001905	Congenital thrombocytopenia	-	OMIM:300367
2623	GATA1	HP:0009025	Increased connective tissue	HP:0040283	ORPHA:79277
2623	GATA1	HP:0000656	Ectropion	HP:0040283	ORPHA:79277
2623	GATA1	HP:0004322	Short stature	HP:0040283	ORPHA:124
2623	GATA1	HP:0031965	Increased RBC distribution width	3/3	OMIM:314050
2623	GATA1	HP:0004312	Abnormal reticulocyte morphology	-	OMIM:300835
2623	GATA1	HP:0003010	Prolonged bleeding time	-	OMIM:314050
2623	GATA1	HP:0011457	Loss of eyelashes	HP:0040283	ORPHA:79277
2623	GATA1	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
2623	GATA1	HP:0004446	Stomatocytosis	1/1	OMIM:301083
2623	GATA1	HP:0004445	Elliptocytosis	-	OMIM:300835
2623	GATA1	HP:0004447	Poikilocytosis	HP:0040281	ORPHA:67044
2623	GATA1	HP:0004447	Poikilocytosis	HP:0040283	OMIM:300367
2623	GATA1	HP:0004447	Poikilocytosis	6/8	OMIM:300835
2623	GATA1	HP:0004447	Poikilocytosis	HP:0040283	ORPHA:79277
2623	GATA1	HP:0030756	Erythrodontia	HP:0040282	ORPHA:79277
2623	GATA1	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
2623	GATA1	HP:0012804	Corneal ulceration	HP:0040283	ORPHA:79277
2623	GATA1	HP:0004552	Scarring alopecia of scalp	HP:0040283	ORPHA:79277
2623	GATA1	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040281	ORPHA:67044
2623	GATA1	HP:4000184	Reduced erythrocyte adenosine triphosphate concentration	1/1	OMIM:301083
2623	GATA1	HP:0000980	Pallor	HP:0040282	ORPHA:124
2623	GATA1	HP:0000978	Bruising susceptibility	-	OMIM:300367
2623	GATA1	HP:0000978	Bruising susceptibility	3/3	OMIM:314050
2623	GATA1	HP:0000989	Pruritus	HP:0040284	ORPHA:79277
2623	GATA1	HP:0033009	Increased fecal coproporphyrin 1	HP:0040282	ORPHA:79277
2623	GATA1	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:79277
2623	GATA1	HP:0000969	Edema	HP:0040284	ORPHA:79277
2623	GATA1	HP:0000967	Petechiae	-	OMIM:300367
2623	GATA1	HP:0000967	Petechiae	-	OMIM:314050
2623	GATA1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:79277
2623	GATA1	HP:0000938	Osteopenia	HP:0040283	ORPHA:79277
2623	GATA1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79277
2623	GATA1	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:79277
2623	GATA1	HP:0040185	Macrothrombocytopenia	HP:0040281	ORPHA:67044
2623	GATA1	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
2623	GATA1	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
2623	GATA1	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
2623	GATA1	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
2623	GATA1	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
2623	GATA1	HP:0012217	Increased urinary porphobilinogen	HP:0040281	ORPHA:79277
2623	GATA1	HP:0000218	High palate	HP:0040283	ORPHA:124
2623	GATA1	HP:0001560	Abnormality of the amniotic fluid	HP:0040283	ORPHA:79277
2623	GATA1	HP:0002860	Squamous cell carcinoma	HP:0040284	ORPHA:79277
2623	GATA1	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
2623	GATA1	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
2623	GATA1	HP:0001510	Growth delay	HP:0040282	ORPHA:124
2623	GATA1	HP:0002904	Hyperbilirubinemia	1/1	OMIM:301083
2623	GATA1	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
2623	GATA1	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
2623	GATA1	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
2623	GATA1	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
2623	GATA1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
2623	GATA1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
2623	GATA1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
2623	GATA1	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
2623	GATA1	HP:0000486	Strabismus	HP:0040284	ORPHA:124
2623	GATA1	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
2623	GATA1	HP:0001790	Nonimmune hydrops fetalis	HP:0040282	ORPHA:79277
2623	GATA1	HP:0000470	Short neck	HP:0040283	ORPHA:124
2623	GATA1	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
2623	GATA1	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
2623	GATA1	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
2623	GATA1	HP:0001744	Splenomegaly	-	OMIM:314050
2623	GATA1	HP:0001744	Splenomegaly	HP:0040281	ORPHA:231393
2623	GATA1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:79277
2623	GATA1	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
2623	GATA1	HP:0000421	Epistaxis	-	OMIM:300367
2623	GATA1	HP:0000421	Epistaxis	-	OMIM:314050
2623	GATA1	HP:0005406	Recurrent bacterial skin infections	HP:0040282	ORPHA:79277
2623	GATA1	HP:0011273	Anisocytosis	HP:0040281	ORPHA:67044
2623	GATA1	HP:0011273	Anisocytosis	8/8	OMIM:300835
2623	GATA1	HP:0011273	Anisocytosis	HP:0040283	ORPHA:79277
2623	GATA1	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
2623	GATA1	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
2623	GATA1	HP:0000508	Ptosis	HP:0040284	ORPHA:124
2623	GATA1	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:231393
2623	GATA1	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:79277
2623	GATA1	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
2623	GATA1	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
2623	GATA1	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
2623	GATA1	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
2623	GATA1	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:79277
2623	GATA1	HP:0001878	Hemolytic anemia	HP:0040282	OMIM:314050
2623	GATA1	HP:0001878	Hemolytic anemia	1/1	OMIM:301083
2623	GATA1	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:79277
2623	GATA1	HP:0001873	Thrombocytopenia	3/3	OMIM:314050
2623	GATA1	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
2623	GATA1	HP:0001873	Thrombocytopenia	0/8	OMIM:300835
2623	GATA1	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:231393
2623	GATA1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:79277
2623	GATA1	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
2623	GATA1	HP:0001875	Decreased total neutrophil count	6/8	OMIM:300835
2624	GATA2	HP:0001182	Tapered finger	HP:0040283	OMIM:614038
2624	GATA2	HP:0002488	Acute leukemia	HP:0040281	ORPHA:228423
2624	GATA2	HP:0032242	Cervical intraepithelial neoplasia	1/1	OMIM:614172
2624	GATA2	HP:0100807	Long fingers	HP:0040283	OMIM:614038
2624	GATA2	HP:0010976	Decreased total B cell count	1/1	OMIM:614172
2624	GATA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
2624	GATA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614172
2624	GATA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614038
2624	GATA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:601626
2624	GATA2	HP:0002619	Varicose veins	-	OMIM:153400
2624	GATA2	HP:0000175	Cleft palate	5/39	OMIM:153400
2624	GATA2	HP:0002754	Osteomyelitis	1/1	OMIM:614172
2624	GATA2	HP:0001442	Typified by somatic mosaicism	-	OMIM:601626
2624	GATA2	HP:0001442	Typified by somatic mosaicism	-	OMIM:614286
2624	GATA2	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:228423
2624	GATA2	HP:0002721	Immunodeficiency	1/1	OMIM:614172
2624	GATA2	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:228423
2624	GATA2	HP:0002076	Migraine	HP:0040282	ORPHA:228423
2624	GATA2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:228423
2624	GATA2	HP:0002170	Intracranial hemorrhage	HP:0040282	ORPHA:228423
2624	GATA2	HP:0033222	Inverted CD4:CD8 ratio	4/14	OMIM:614038
2624	GATA2	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:228423
2624	GATA2	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
2624	GATA2	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:228423
2624	GATA2	HP:0009743	Distichiasis	42/42	OMIM:153400
2624	GATA2	HP:0100724	Hypercoagulability	HP:0040282	ORPHA:228423
2624	GATA2	HP:0011991	Abnormal total neutrophil count	HP:0040281	ORPHA:228423
2624	GATA2	HP:0004808	Acute myeloid leukemia	-	OMIM:601626
2624	GATA2	HP:0004808	Acute myeloid leukemia	6/14	OMIM:614038
2624	GATA2	HP:0001004	Lymphedema	13/14	OMIM:614038
2624	GATA2	HP:0001004	Lymphedema	HP:0040281	ORPHA:228423
2624	GATA2	HP:0001004	Lymphedema	-	OMIM:153400
2624	GATA2	HP:0002321	Vertigo	HP:0040282	ORPHA:228423
2624	GATA2	HP:0100658	Cellulitis	-	OMIM:614038
2624	GATA2	HP:0100658	Cellulitis	2/6	OMIM:153400
2624	GATA2	HP:0200043	Verrucae	4/14	OMIM:614038
2624	GATA2	HP:0005528	Bone marrow hypocellularity	HP:0040281	ORPHA:228423
2624	GATA2	HP:0005547	Myeloproliferative disorder	HP:0040283	ORPHA:228423
2624	GATA2	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:228423
2624	GATA2	HP:0000613	Photophobia	10/49	OMIM:153400
2624	GATA2	HP:0001945	Fever	HP:0040282	ORPHA:228423
2624	GATA2	HP:0000601	Hypotelorism	HP:0040283	OMIM:614038
2624	GATA2	HP:0001909	Leukemia	-	OMIM:614038
2624	GATA2	HP:0001903	Anemia	1/1	OMIM:614172
2624	GATA2	HP:0001915	Aplastic anemia	HP:0040283	OMIM:614172
2624	GATA2	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
2624	GATA2	HP:0000656	Ectropion	2/43	OMIM:153400
2624	GATA2	HP:0003011	Abnormality of the musculature	-	OMIM:153400
2624	GATA2	HP:0003010	Prolonged bleeding time	HP:0040281	ORPHA:228423
2624	GATA2	HP:0004429	Recurrent viral infections	-	OMIM:614172
2624	GATA2	HP:0012804	Corneal ulceration	-	OMIM:153400
2624	GATA2	HP:0040218	Reduced total natural killer cell count	1/1	OMIM:614172
2624	GATA2	HP:0010310	Chylothorax	1/6	OMIM:153400
2624	GATA2	HP:0000980	Pallor	HP:0040282	ORPHA:228423
2624	GATA2	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:228423
2624	GATA2	HP:0011675	Arrhythmia	-	OMIM:153400
2624	GATA2	HP:0000286	Epicanthus	HP:0040283	OMIM:614038
2624	GATA2	HP:0002808	Kyphosis	2/5	OMIM:153400
2624	GATA2	HP:0002878	Respiratory failure	HP:0040281	ORPHA:228423
2624	GATA2	HP:0000204	Cleft upper lip	-	OMIM:153400
2624	GATA2	HP:0002863	Myelodysplasia	7/14	OMIM:614038
2624	GATA2	HP:0002863	Myelodysplasia	-	OMIM:614286
2624	GATA2	HP:0002863	Myelodysplasia	1/1	OMIM:614172
2624	GATA2	HP:0031385	Megakaryocyte nucleus hypolobulation	1/1	OMIM:614172
2624	GATA2	HP:0002841	Recurrent fungal infections	-	OMIM:614172
2624	GATA2	HP:0012378	Fatigue	HP:0040281	ORPHA:228423
2624	GATA2	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:228423
2624	GATA2	HP:0012324	Myeloid leukemia	-	OMIM:614172
2624	GATA2	HP:0012312	Decreased total monocyte count	11/11	OMIM:614172
2624	GATA2	HP:0000347	Micrognathia	2/5	OMIM:153400
2624	GATA2	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
2624	GATA2	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
2624	GATA2	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
2624	GATA2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:228423
2624	GATA2	HP:0000476	Cystic hygroma	2/43	OMIM:153400
2624	GATA2	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
2624	GATA2	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
2624	GATA2	HP:0000465	Webbed neck	HP:0040283	OMIM:614038
2624	GATA2	HP:0000465	Webbed neck	6/43	OMIM:153400
2624	GATA2	HP:0001744	Splenomegaly	HP:0040282	ORPHA:228423
2624	GATA2	HP:0025709	Intermediate young adult onset	1/1	OMIM:614172
2624	GATA2	HP:0011275	Recurrent mycobacterium avium complex infections	-	OMIM:614172
2624	GATA2	HP:0001824	Weight loss	HP:0040282	ORPHA:228423
2624	GATA2	HP:0000509	Conjunctivitis	-	OMIM:153400
2624	GATA2	HP:0000508	Ptosis	2/39	OMIM:153400
2624	GATA2	HP:0000587	Abnormal optic nerve morphology	HP:0040282	ORPHA:228423
2624	GATA2	HP:0001888	Decreased total lymphocyte count	-	OMIM:614172
2624	GATA2	HP:0000572	Visual loss	HP:0040282	ORPHA:228423
2624	GATA2	HP:0000568	Microphthalmia	1/6	OMIM:153400
2624	GATA2	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:228423
2624	GATA2	HP:0001876	Pancytopenia	-	OMIM:614038
2624	GATA2	HP:0001875	Decreased total neutrophil count	1/1	OMIM:614172
2625	GATA3	HP:0001153	Septate vagina	HP:0040283	ORPHA:2237
2625	GATA3	HP:0001153	Septate vagina	HP:0040283	OMIM:146255
2625	GATA3	HP:0003765	Psoriasiform dermatitis	HP:0040284	ORPHA:2237
2625	GATA3	HP:0003762	Uterus didelphys	HP:0040283	ORPHA:2237
2625	GATA3	HP:0003762	Uterus didelphys	HP:0040283	OMIM:146255
2625	GATA3	HP:0001281	Tetany	1/1	OMIM:146255
2625	GATA3	HP:0008718	Unilateral renal dysplasia	1/1	OMIM:146255
2625	GATA3	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:2237
2625	GATA3	HP:0000093	Proteinuria	-	OMIM:146255
2625	GATA3	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2237
2625	GATA3	HP:0008850	Severe postnatal growth retardation	HP:0040284	ORPHA:2237
2625	GATA3	HP:0000006	Autosomal dominant inheritance	-	OMIM:146255
2625	GATA3	HP:0000175	Cleft palate	HP:0040284	ORPHA:2237
2625	GATA3	HP:0000151	Aplasia of the uterus	HP:0040284	ORPHA:2237
2625	GATA3	HP:0000151	Aplasia of the uterus	1/1	OMIM:146255
2625	GATA3	HP:0000148	Vaginal atresia	HP:0040284	ORPHA:2237
2625	GATA3	HP:0000121	Nephrocalcinosis	-	OMIM:146255
2625	GATA3	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2237
2625	GATA3	HP:0000113	Polycystic kidney dysplasia	HP:0040282	ORPHA:2237
2625	GATA3	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:2237
2625	GATA3	HP:0000100	Nephrotic syndrome	-	OMIM:146255
2625	GATA3	HP:0000110	Renal dysplasia	-	OMIM:146255
2625	GATA3	HP:0000110	Renal dysplasia	HP:0040280	ORPHA:2237
2625	GATA3	HP:0002049	Proximal renal tubular acidosis	-	OMIM:146255
2625	GATA3	HP:0002135	Basal ganglia calcification	1/1	OMIM:146255
2625	GATA3	HP:0002199	Hypocalcemic seizures	HP:0040282	ORPHA:2237
2625	GATA3	HP:0011840	Abnormality of T cell physiology	HP:0040284	ORPHA:2237
2625	GATA3	HP:0004722	Thickened glomerular basement membrane	-	OMIM:146255
2625	GATA3	HP:0003577	Congenital onset	1/1	OMIM:146255
2625	GATA3	HP:0008341	Distal renal tubular acidosis	-	OMIM:146255
2625	GATA3	HP:0012622	Chronic kidney disease	-	OMIM:146255
2625	GATA3	HP:0000666	Horizontal nystagmus	1/1	OMIM:146255
2625	GATA3	HP:0000790	Hematuria	-	OMIM:146255
2625	GATA3	HP:0000786	Primary amenorrhea	1/1	OMIM:146255
2625	GATA3	HP:0000860	Parathyroid hypoplasia	HP:0040282	ORPHA:2237
2625	GATA3	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2237
2625	GATA3	HP:0000829	Hypoparathyroidism	HP:0040280	ORPHA:2237
2625	GATA3	HP:0000829	Hypoparathyroidism	170/182	OMIM:146255
2625	GATA3	HP:0003250	Aplasia of the vagina	1/1	OMIM:146255
2625	GATA3	HP:0002901	Hypocalcemia	HP:0040282	ORPHA:2237
2625	GATA3	HP:0001627	Abnormal heart morphology	HP:0040284	ORPHA:2237
2625	GATA3	HP:0000408	Progressive sensorineural hearing impairment	HP:0040280	ORPHA:2237
2625	GATA3	HP:0000407	Sensorineural hearing impairment	176/182	OMIM:146255
2625	GATA3	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:2237
2625	GATA3	HP:0000508	Ptosis	1/1	OMIM:146255
2625	GATA3	HP:0000538	Pseudopapilledema	1/1	OMIM:146255
2626	GATA4	HP:0001182	Tapered finger	HP:0040282	ORPHA:251071
2626	GATA4	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3303
2626	GATA4	HP:0002465	Poor speech	HP:0040282	ORPHA:251071
2626	GATA4	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:3303
2626	GATA4	HP:0001297	Stroke	HP:0040284	ORPHA:99103
2626	GATA4	HP:0001279	Syncope	HP:0040282	ORPHA:334
2626	GATA4	HP:0001279	Syncope	HP:0040284	ORPHA:99103
2626	GATA4	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:251071
2626	GATA4	HP:0001250	Seizure	HP:0040282	ORPHA:251071
2626	GATA4	HP:0001263	Global developmental delay	HP:0040281	ORPHA:251071
2626	GATA4	HP:0008726	Hypoplasia of the vagina	HP:0040281	ORPHA:251510
2626	GATA4	HP:0008730	Female external genitalia in individual with 46,XY karyotype	HP:0040281	ORPHA:251510
2626	GATA4	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:251510
2626	GATA4	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:251510
2626	GATA4	HP:0008715	Testicular dysgenesis	-	OMIM:615542
2626	GATA4	HP:0008665	Clitoral hypertrophy	HP:0040281	ORPHA:251510
2626	GATA4	HP:0000062	Ambiguous genitalia	2/3	OMIM:615542
2626	GATA4	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:251510
2626	GATA4	HP:0000058	Abnormal labia morphology	HP:0040281	ORPHA:251510
2626	GATA4	HP:0000045	Abnormal scrotum morphology	HP:0040281	ORPHA:251510
2626	GATA4	HP:0000054	Micropenis	HP:0040281	ORPHA:251510
2626	GATA4	HP:0000051	Perineal hypospadias	1/3	OMIM:615542
2626	GATA4	HP:0000047	Hypospadias	HP:0040282	ORPHA:251071
2626	GATA4	HP:0000047	Hypospadias	HP:0040281	ORPHA:251510
2626	GATA4	HP:0000023	Inguinal hernia	3/3	OMIM:615542
2626	GATA4	HP:0000030	Testicular gonadoblastoma	HP:0040283	ORPHA:251510
2626	GATA4	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:251510
2626	GATA4	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:251071
2626	GATA4	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3303
2626	GATA4	HP:0000028	Cryptorchidism	3/3	OMIM:615542
2626	GATA4	HP:0000027	Azoospermia	HP:0040281	ORPHA:251510
2626	GATA4	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:251510
2626	GATA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
2626	GATA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:614429
2626	GATA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:614430
2626	GATA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:607941
2626	GATA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:615542
2626	GATA4	HP:0000142	Abnormal vagina morphology	HP:0040281	ORPHA:251510
2626	GATA4	HP:0000150	Gonadoblastoma	HP:0040282	ORPHA:251510
2626	GATA4	HP:0000149	Ovarian gonadoblastoma	HP:0040283	ORPHA:251510
2626	GATA4	HP:0000133	Gonadal dysgenesis	HP:0040281	ORPHA:251510
2626	GATA4	HP:0000100	Nephrotic syndrome	HP:0040284	ORPHA:251510
2626	GATA4	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:251510
2626	GATA4	HP:0002718	Recurrent bacterial infections	HP:0040284	ORPHA:99103
2626	GATA4	HP:0005957	Breathing dysregulation	HP:0040283	ORPHA:99103
2626	GATA4	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
2626	GATA4	HP:0002094	Dyspnea	HP:0040283	ORPHA:99103
2626	GATA4	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:99103
2626	GATA4	HP:0002090	Pneumonia	HP:0040284	ORPHA:99103
2626	GATA4	HP:0010445	Primum atrial septal defect	-	OMIM:614430
2626	GATA4	HP:0011710	Bundle branch block	HP:0040283	ORPHA:99103
2626	GATA4	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:99103
2626	GATA4	HP:0008193	Primary gonadal insufficiency	HP:0040283	ORPHA:251510
2626	GATA4	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:251510
2626	GATA4	HP:0010464	Streak ovary	HP:0040281	ORPHA:251510
2626	GATA4	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:99103
2626	GATA4	HP:0004749	Atrial flutter	HP:0040283	ORPHA:99103
2626	GATA4	HP:0009623	Proximal placement of thumb	HP:0040283	ORPHA:251071
2626	GATA4	HP:0008232	Elevated circulating follicle stimulating hormone level	HP:0040281	ORPHA:251510
2626	GATA4	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:251510
2626	GATA4	HP:0003577	Congenital onset	24/24	OMIM:607941
2626	GATA4	HP:0003577	Congenital onset	-	OMIM:614429
2626	GATA4	HP:0003577	Congenital onset	-	OMIM:614430
2626	GATA4	HP:0003577	Congenital onset	3/3	OMIM:615542
2626	GATA4	HP:0002215	Sparse axillary hair	HP:0040281	ORPHA:251510
2626	GATA4	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
2626	GATA4	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:99103
2626	GATA4	HP:0002225	Sparse pubic hair	HP:0040281	ORPHA:251510
2626	GATA4	HP:0100779	Urogenital sinus anomaly	HP:0040281	ORPHA:251510
2626	GATA4	HP:0100749	Chest pain	HP:0040282	ORPHA:334
2626	GATA4	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:251071
2626	GATA4	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040281	ORPHA:251510
2626	GATA4	HP:0002321	Vertigo	HP:0040282	ORPHA:334
2626	GATA4	HP:0002326	Transient ischemic attack	HP:0040284	ORPHA:99103
2626	GATA4	HP:0100625	Enlarged thorax	HP:0040282	ORPHA:251071
2626	GATA4	HP:0010741	Pedal edema	HP:0040283	ORPHA:99103
2626	GATA4	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
2626	GATA4	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:3303
2626	GATA4	HP:0010059	Broad hallux phalanx	HP:0040283	ORPHA:251071
2626	GATA4	HP:4000094	Corpus cavernosum hypoplasia	1/3	OMIM:615542
2626	GATA4	HP:0001962	Palpitations	HP:0040282	ORPHA:334
2626	GATA4	HP:0001962	Palpitations	HP:0040282	ORPHA:99103
2626	GATA4	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
2626	GATA4	HP:0011304	Broad thumb	HP:0040283	ORPHA:251071
2626	GATA4	HP:0004322	Short stature	HP:0040282	ORPHA:251071
2626	GATA4	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:251071
2626	GATA4	HP:0030680	Abnormal cardiovascular system morphology	HP:0040284	ORPHA:251510
2626	GATA4	HP:0004383	Hypoplastic left heart	HP:0040283	ORPHA:251071
2626	GATA4	HP:0000771	Gynecomastia	HP:0040281	ORPHA:251510
2626	GATA4	HP:0000708	Atypical behavior	HP:0040282	ORPHA:251071
2626	GATA4	HP:0012764	Orthopnea	HP:0040283	ORPHA:99103
2626	GATA4	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:251071
2626	GATA4	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:251510
2626	GATA4	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:251071
2626	GATA4	HP:0004415	Pulmonary artery stenosis	HP:0040282	ORPHA:251071
2626	GATA4	HP:0003196	Short nose	HP:0040282	ORPHA:251071
2626	GATA4	HP:0004467	Preauricular pit	HP:0040282	ORPHA:3303
2626	GATA4	HP:0004467	Preauricular pit	-	OMIM:187500
2626	GATA4	HP:0030718	Right atrial enlargement	HP:0040282	ORPHA:99103
2626	GATA4	HP:0012870	Vanishing testis	HP:0040281	ORPHA:251510
2626	GATA4	HP:0000868	Decreased fertility in females	HP:0040281	ORPHA:251510
2626	GATA4	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:251510
2626	GATA4	HP:0000846	Adrenal insufficiency	HP:0040283	ORPHA:251510
2626	GATA4	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:251510
2626	GATA4	HP:0000812	Abnormal internal genitalia	HP:0040281	ORPHA:251510
2626	GATA4	HP:0000823	Delayed puberty	HP:0040282	ORPHA:251510
2626	GATA4	HP:0003251	Male infertility	HP:0040281	ORPHA:251510
2626	GATA4	HP:0000961	Cyanosis	HP:0040284	ORPHA:99103
2626	GATA4	HP:0000939	Osteoporosis	HP:0040281	ORPHA:251510
2626	GATA4	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:251510
2626	GATA4	HP:0011675	Arrhythmia	HP:0040283	ORPHA:99103
2626	GATA4	HP:0000286	Epicanthus	HP:0040282	ORPHA:251071
2626	GATA4	HP:0000293	Full cheeks	HP:0040283	ORPHA:251071
2626	GATA4	HP:0012250	ST segment depression	HP:0040283	ORPHA:99103
2626	GATA4	HP:0012244	Abnormal sex determination	HP:0040281	ORPHA:251510
2626	GATA4	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:3303
2626	GATA4	HP:0005133	Right ventricular dilatation	HP:0040283	ORPHA:99103
2626	GATA4	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:99103
2626	GATA4	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:99103
2626	GATA4	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
2626	GATA4	HP:0005105	Abnormal nasal morphology	HP:0040281	ORPHA:3303
2626	GATA4	HP:0000252	Microcephaly	HP:0040282	ORPHA:251071
2626	GATA4	HP:0000218	High palate	HP:0040282	ORPHA:251071
2626	GATA4	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:99103
2626	GATA4	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:3303
2626	GATA4	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:251071
2626	GATA4	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:251071
2626	GATA4	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3303
2626	GATA4	HP:0001510	Growth delay	HP:0040282	ORPHA:251071
2626	GATA4	HP:0001513	Obesity	HP:0040283	ORPHA:251071
2626	GATA4	HP:0012378	Fatigue	HP:0040282	ORPHA:334
2626	GATA4	HP:0012378	Fatigue	HP:0040282	ORPHA:99103
2626	GATA4	HP:0012382	Left-to-right shunt	HP:0040281	ORPHA:99103
2626	GATA4	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:251071
2626	GATA4	HP:0006536	Airway obstruction	HP:0040284	ORPHA:99103
2626	GATA4	HP:0002926	Abnormality of thyroid physiology	0/3	OMIM:615542
2626	GATA4	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:99103
2626	GATA4	HP:0005162	Abnormal left ventricular function	HP:0040283	ORPHA:99103
2626	GATA4	HP:0000369	Low-set ears	HP:0040282	ORPHA:251071
2626	GATA4	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:251071
2626	GATA4	HP:0001669	Transposition of the great arteries	HP:0040283	ORPHA:251071
2626	GATA4	HP:0000337	Broad forehead	-	OMIM:187500
2626	GATA4	HP:0000337	Broad forehead	HP:0040281	ORPHA:3303
2626	GATA4	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:251071
2626	GATA4	HP:0000348	High forehead	HP:0040282	ORPHA:251071
2626	GATA4	HP:0000347	Micrognathia	HP:0040282	ORPHA:251071
2626	GATA4	HP:0001651	Dextrocardia	1/24	OMIM:607941
2626	GATA4	HP:0001643	Patent ductus arteriosus	1/24	OMIM:607941
2626	GATA4	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:251071
2626	GATA4	HP:0001642	Pulmonic stenosis	HP:0040283	OMIM:614429
2626	GATA4	HP:0001642	Pulmonic stenosis	6/24	OMIM:607941
2626	GATA4	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
2626	GATA4	HP:0001659	Aortic regurgitation	1/24	OMIM:607941
2626	GATA4	HP:0001653	Mitral regurgitation	1/24	OMIM:607941
2626	GATA4	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:99103
2626	GATA4	HP:0001629	Ventricular septal defect	3/24	OMIM:607941
2626	GATA4	HP:0001629	Ventricular septal defect	9/12	OMIM:614429
2626	GATA4	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:251071
2626	GATA4	HP:0001636	Tetralogy of Fallot	1/12	OMIM:614429
2626	GATA4	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:3303
2626	GATA4	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:251071
2626	GATA4	HP:0001636	Tetralogy of Fallot	1/3	OMIM:615542
2626	GATA4	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
2626	GATA4	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:99103
2626	GATA4	HP:0001631	Atrial septal defect	23/24	OMIM:607941
2626	GATA4	HP:0001631	Atrial septal defect	HP:0040283	OMIM:614429
2626	GATA4	HP:0001633	Abnormal mitral valve morphology	HP:0040283	ORPHA:99103
2626	GATA4	HP:0006610	Wide intermamillary distance	HP:0040282	ORPHA:251071
2626	GATA4	HP:0006695	Atrioventricular canal defect	1/12	OMIM:614429
2626	GATA4	HP:0006695	Atrioventricular canal defect	1/24	OMIM:607941
2626	GATA4	HP:0006695	Atrioventricular canal defect	HP:0040282	ORPHA:251071
2626	GATA4	HP:0005317	Increased pulmonary vascular resistance	HP:0040284	ORPHA:99103
2626	GATA4	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
2626	GATA4	HP:0001708	Right ventricular failure	HP:0040284	ORPHA:99103
2626	GATA4	HP:0000486	Strabismus	HP:0040283	ORPHA:251071
2626	GATA4	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:251071
2626	GATA4	HP:0000490	Deeply set eye	HP:0040283	ORPHA:251071
2626	GATA4	HP:0000470	Short neck	HP:0040282	ORPHA:251071
2626	GATA4	HP:0030260	Microphallus	1/3	OMIM:615542
2626	GATA4	HP:0001763	Pes planus	HP:0040283	ORPHA:251071
2626	GATA4	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:251071
2626	GATA4	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:251071
2626	GATA4	HP:0000520	Proptosis	-	OMIM:187500
2626	GATA4	HP:0000520	Proptosis	HP:0040282	ORPHA:3303
2626	GATA4	HP:0001824	Weight loss	HP:0040282	ORPHA:251071
2626	GATA4	HP:0031664	Systolic heart murmur	HP:0040282	ORPHA:99103
2626	GATA4	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:251071
2627	GATA6	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3303
2627	GATA6	HP:0001195	Single umbilical artery	HP:0040284	ORPHA:2255
2627	GATA6	HP:0001195	Single umbilical artery	1/4	OMIM:600001
2627	GATA6	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:3303
2627	GATA6	HP:0001297	Stroke	HP:0040284	ORPHA:99103
2627	GATA6	HP:0100801	Pancreatic aplasia	HP:0040282	ORPHA:2255
2627	GATA6	HP:0001279	Syncope	HP:0040282	ORPHA:334
2627	GATA6	HP:0001279	Syncope	HP:0040284	ORPHA:99103
2627	GATA6	HP:0001250	Seizure	HP:0040283	OMIM:600001
2627	GATA6	HP:0001250	Seizure	HP:0040283	ORPHA:2255
2627	GATA6	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2255
2627	GATA6	HP:0002594	Pancreatic hypoplasia	-	OMIM:600001
2627	GATA6	HP:0002594	Pancreatic hypoplasia	HP:0040282	ORPHA:2255
2627	GATA6	HP:0001263	Global developmental delay	7/15	OMIM:600001
2627	GATA6	HP:0002566	Intestinal malrotation	1/15	OMIM:600001
2627	GATA6	HP:0002566	Intestinal malrotation	HP:0040282	ORPHA:2140
2627	GATA6	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:2255
2627	GATA6	HP:0000073	Ureteral duplication	HP:0040284	ORPHA:2255
2627	GATA6	HP:0000073	Ureteral duplication	1/4	OMIM:600001
2627	GATA6	HP:0000023	Inguinal hernia	HP:0040283	OMIM:600001
2627	GATA6	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3303
2627	GATA6	HP:0000007	Autosomal recessive inheritance	-	OMIM:217095
2627	GATA6	HP:0000006	Autosomal dominant inheritance	-	OMIM:600001
2627	GATA6	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
2627	GATA6	HP:0000006	Autosomal dominant inheritance	-	OMIM:614474
2627	GATA6	HP:0000006	Autosomal dominant inheritance	-	OMIM:614475
2627	GATA6	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:2255
2627	GATA6	HP:0002718	Recurrent bacterial infections	HP:0040284	ORPHA:99103
2627	GATA6	HP:0005957	Breathing dysregulation	HP:0040283	ORPHA:99103
2627	GATA6	HP:0002089	Pulmonary hypoplasia	HP:0040282	ORPHA:2140
2627	GATA6	HP:0002098	Respiratory distress	HP:0040282	ORPHA:2140
2627	GATA6	HP:0002098	Respiratory distress	HP:0040283	ORPHA:2255
2627	GATA6	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
2627	GATA6	HP:0002094	Dyspnea	HP:0040283	ORPHA:99103
2627	GATA6	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:99103
2627	GATA6	HP:0002092	Pulmonary arterial hypertension	1/4	OMIM:614475
2627	GATA6	HP:0002090	Pneumonia	HP:0040284	ORPHA:99103
2627	GATA6	HP:0011710	Bundle branch block	HP:0040283	ORPHA:99103
2627	GATA6	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:99103
2627	GATA6	HP:0005912	Biliary atresia	1/15	OMIM:600001
2627	GATA6	HP:0005912	Biliary atresia	HP:0040284	ORPHA:2255
2627	GATA6	HP:0004762	Hypoplasia of right ventricle	HP:0040283	ORPHA:2255
2627	GATA6	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:99103
2627	GATA6	HP:0004749	Atrial flutter	HP:0040283	ORPHA:99103
2627	GATA6	HP:0003577	Congenital onset	1/1	OMIM:614474
2627	GATA6	HP:0003577	Congenital onset	2/2	OMIM:614475
2627	GATA6	HP:0002254	Intermittent diarrhea	HP:0040282	ORPHA:2255
2627	GATA6	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
2627	GATA6	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:99103
2627	GATA6	HP:0100790	Hernia	HP:0040282	ORPHA:2255
2627	GATA6	HP:0100749	Chest pain	HP:0040282	ORPHA:334
2627	GATA6	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2255
2627	GATA6	HP:0010626	Anterior pituitary agenesis	HP:0040284	ORPHA:2255
2627	GATA6	HP:0002321	Vertigo	HP:0040282	ORPHA:334
2627	GATA6	HP:0003645	Prolonged partial thromboplastin time	HP:0040283	ORPHA:2255
2627	GATA6	HP:0002326	Transient ischemic attack	HP:0040284	ORPHA:99103
2627	GATA6	HP:0010741	Pedal edema	HP:0040283	ORPHA:99103
2627	GATA6	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
2627	GATA6	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:3303
2627	GATA6	HP:0001962	Palpitations	HP:0040282	ORPHA:334
2627	GATA6	HP:0001962	Palpitations	HP:0040282	ORPHA:99103
2627	GATA6	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:217095
2627	GATA6	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
2627	GATA6	HP:0010055	Broad hallux	-	OMIM:217095
2627	GATA6	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:2140
2627	GATA6	HP:0003076	Glycosuria	-	OMIM:600001
2627	GATA6	HP:0003074	Hyperglycemia	-	OMIM:600001
2627	GATA6	HP:0004388	Microcolon	HP:0040283	OMIM:600001
2627	GATA6	HP:0004383	Hypoplastic left heart	1/1	OMIM:614474
2627	GATA6	HP:0011467	Absent gallbladder	4/15	OMIM:600001
2627	GATA6	HP:0011466	Aplasia/Hypoplasia of the gallbladder	HP:0040284	ORPHA:2255
2627	GATA6	HP:0012764	Orthopnea	HP:0040283	ORPHA:99103
2627	GATA6	HP:0000776	Congenital diaphragmatic hernia	3/4	OMIM:600001
2627	GATA6	HP:0000776	Congenital diaphragmatic hernia	HP:0040281	ORPHA:2140
2627	GATA6	HP:0000776	Congenital diaphragmatic hernia	HP:0040284	ORPHA:2255
2627	GATA6	HP:0009112	Aplasia of the left hemidiaphragm	2/15	OMIM:600001
2627	GATA6	HP:0004415	Pulmonary artery stenosis	HP:0040283	ORPHA:2255
2627	GATA6	HP:0004415	Pulmonary artery stenosis	3/15	OMIM:600001
2627	GATA6	HP:0004467	Preauricular pit	HP:0040282	ORPHA:3303
2627	GATA6	HP:0004467	Preauricular pit	-	OMIM:187500
2627	GATA6	HP:0030718	Right atrial enlargement	HP:0040282	ORPHA:99103
2627	GATA6	HP:0000891	Cervical ribs	1/4	OMIM:600001
2627	GATA6	HP:0000891	Cervical ribs	HP:0040284	ORPHA:2255
2627	GATA6	HP:0000884	Prominent sternum	HP:0040282	ORPHA:2140
2627	GATA6	HP:0000857	Neonatal insulin-dependent diabetes mellitus	HP:0040281	ORPHA:2255
2627	GATA6	HP:0000851	Congenital hypothyroidism	HP:0040283	ORPHA:2255
2627	GATA6	HP:0000819	Diabetes mellitus	-	OMIM:600001
2627	GATA6	HP:0011581	Double outlet left ventricle	1/15	OMIM:600001
2627	GATA6	HP:0011581	Double outlet left ventricle	HP:0040283	ORPHA:2255
2627	GATA6	HP:0011573	Hypoplastic tricuspid valve	-	OMIM:600001
2627	GATA6	HP:0011573	Hypoplastic tricuspid valve	HP:0040283	ORPHA:2255
2627	GATA6	HP:0010315	Aplasia/Hypoplasia of the diaphragm	HP:0040282	ORPHA:2140
2627	GATA6	HP:0100259	Postaxial polydactyly	-	OMIM:217095
2627	GATA6	HP:0011629	Total absence of the pericardium	1/4	OMIM:600001
2627	GATA6	HP:0011628	Congenital defect of the pericardium	HP:0040284	ORPHA:2255
2627	GATA6	HP:0011623	Muscular ventricular septal defect	1/1	OMIM:614474
2627	GATA6	HP:0011611	Interrupted aortic arch	1/15	OMIM:600001
2627	GATA6	HP:0011611	Interrupted aortic arch	HP:0040284	ORPHA:2255
2627	GATA6	HP:0000961	Cyanosis	HP:0040284	ORPHA:99103
2627	GATA6	HP:0040196	Mild microcephaly	HP:0040284	ORPHA:2255
2627	GATA6	HP:0011675	Arrhythmia	HP:0040283	ORPHA:99103
2627	GATA6	HP:0011682	Perimembranous ventricular septal defect	1/15	OMIM:600001
2627	GATA6	HP:0012250	ST segment depression	HP:0040283	ORPHA:99103
2627	GATA6	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:3303
2627	GATA6	HP:0005133	Right ventricular dilatation	HP:0040283	ORPHA:99103
2627	GATA6	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:99103
2627	GATA6	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:99103
2627	GATA6	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
2627	GATA6	HP:0005105	Abnormal nasal morphology	HP:0040281	ORPHA:3303
2627	GATA6	HP:0000252	Microcephaly	HP:0040283	OMIM:600001
2627	GATA6	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:99103
2627	GATA6	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:2255
2627	GATA6	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:3303
2627	GATA6	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:2255
2627	GATA6	HP:0001537	Umbilical hernia	1/15	OMIM:600001
2627	GATA6	HP:0031369	Colon perforation	1/15	OMIM:600001
2627	GATA6	HP:0001508	Failure to thrive	-	OMIM:600001
2627	GATA6	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2255
2627	GATA6	HP:0001518	Small for gestational age	HP:0040282	ORPHA:2255
2627	GATA6	HP:0001511	Intrauterine growth retardation	-	OMIM:600001
2627	GATA6	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2255
2627	GATA6	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3303
2627	GATA6	HP:0012378	Fatigue	HP:0040282	ORPHA:334
2627	GATA6	HP:0012378	Fatigue	HP:0040282	ORPHA:99103
2627	GATA6	HP:0012382	Left-to-right shunt	HP:0040281	ORPHA:99103
2627	GATA6	HP:0006536	Airway obstruction	HP:0040284	ORPHA:99103
2627	GATA6	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:99103
2627	GATA6	HP:0005162	Abnormal left ventricular function	HP:0040283	ORPHA:99103
2627	GATA6	HP:0001674	Complete atrioventricular canal defect	-	OMIM:217095
2627	GATA6	HP:0001669	Transposition of the great arteries	HP:0040283	ORPHA:2255
2627	GATA6	HP:0001669	Transposition of the great arteries	-	OMIM:600001
2627	GATA6	HP:0001669	Transposition of the great arteries	-	OMIM:217095
2627	GATA6	HP:0000337	Broad forehead	-	OMIM:187500
2627	GATA6	HP:0000337	Broad forehead	HP:0040281	ORPHA:3303
2627	GATA6	HP:0001684	Secundum atrial septal defect	2/4	OMIM:614475
2627	GATA6	HP:0001680	Coarctation of aorta	-	OMIM:217095
2627	GATA6	HP:0001647	Bicuspid aortic valve	1/4	OMIM:614475
2627	GATA6	HP:0000316	Hypertelorism	HP:0040283	OMIM:217095
2627	GATA6	HP:0001643	Patent ductus arteriosus	1/4	OMIM:600001
2627	GATA6	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:2255
2627	GATA6	HP:0001642	Pulmonic stenosis	-	OMIM:600001
2627	GATA6	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:2255
2627	GATA6	HP:0001660	Truncus arteriosus	1/15	OMIM:600001
2627	GATA6	HP:0001660	Truncus arteriosus	-	OMIM:217095
2627	GATA6	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
2627	GATA6	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:99103
2627	GATA6	HP:0001655	Patent foramen ovale	2/15	OMIM:600001
2627	GATA6	HP:0001655	Patent foramen ovale	HP:0040281	ORPHA:2255
2627	GATA6	HP:0001629	Ventricular septal defect	5/15	OMIM:600001
2627	GATA6	HP:0001629	Ventricular septal defect	HP:0040281	ORPHA:2255
2627	GATA6	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:3303
2627	GATA6	HP:0001636	Tetralogy of Fallot	1/4	OMIM:600001
2627	GATA6	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:2255
2627	GATA6	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
2627	GATA6	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:99103
2627	GATA6	HP:0001631	Atrial septal defect	6/15	OMIM:600001
2627	GATA6	HP:0001631	Atrial septal defect	HP:0040281	ORPHA:2255
2627	GATA6	HP:0001633	Abnormal mitral valve morphology	HP:0040283	ORPHA:99103
2627	GATA6	HP:0006695	Atrioventricular canal defect	1/1	OMIM:614474
2627	GATA6	HP:0005317	Increased pulmonary vascular resistance	HP:0040284	ORPHA:99103
2627	GATA6	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
2627	GATA6	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:2255
2627	GATA6	HP:0001708	Right ventricular failure	HP:0040284	ORPHA:99103
2627	GATA6	HP:0001719	Double outlet right ventricle	-	OMIM:217095
2627	GATA6	HP:0012418	Hypoxemia	HP:0040282	ORPHA:2140
2627	GATA6	HP:0000520	Proptosis	-	OMIM:187500
2627	GATA6	HP:0000520	Proptosis	HP:0040282	ORPHA:3303
2627	GATA6	HP:0031664	Systolic heart murmur	HP:0040282	ORPHA:99103
2628	GATM	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:3337
2628	GATM	HP:6000572	Reduced tissue arginine:glycine amidinotransferase activity	1/1	OMIM:612718
2628	GATM	HP:0001249	Intellectual disability	-	OMIM:612718
2628	GATM	HP:0001263	Global developmental delay	-	OMIM:612718
2628	GATM	HP:0000083	Renal insufficiency	-	OMIM:134600
2628	GATM	HP:6000748	Decreased urinary creatine level	-	OMIM:612718
2628	GATM	HP:0002659	Increased susceptibility to fractures	HP:0040282	ORPHA:3337
2628	GATM	HP:0001324	Muscle weakness	-	OMIM:134600
2628	GATM	HP:0001324	Muscle weakness	HP:0040282	ORPHA:3337
2628	GATM	HP:0000007	Autosomal recessive inheritance	-	OMIM:612718
2628	GATM	HP:0000006	Autosomal dominant inheritance	-	OMIM:134600
2628	GATM	HP:0002653	Bone pain	HP:0040282	ORPHA:3337
2628	GATM	HP:0000117	Renal phosphate wasting	HP:0040281	ORPHA:3337
2628	GATM	HP:0000124	Renal tubular dysfunction	-	OMIM:134600
2628	GATM	HP:0002748	Rickets	0/28	OMIM:134600
2628	GATM	HP:0002749	Osteomalacia	-	OMIM:134600
2628	GATM	HP:0002749	Osteomalacia	HP:0040282	ORPHA:3337
2628	GATM	HP:0003355	Aminoaciduria	28/28	OMIM:134600
2628	GATM	HP:0003391	Gowers sign	HP:0040283	OMIM:612718
2628	GATM	HP:0002049	Proximal renal tubular acidosis	HP:0040281	ORPHA:3337
2628	GATM	HP:0002150	Hypercalciuria	HP:0040283	ORPHA:3337
2628	GATM	HP:0002148	Hypophosphatemia	1/2	OMIM:134600
2628	GATM	HP:0002148	Hypophosphatemia	HP:0040282	ORPHA:3337
2628	GATM	HP:0003593	Infantile onset	-	OMIM:612718
2628	GATM	HP:0003537	Hypouricemia	HP:0040282	ORPHA:3337
2628	GATM	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:3337
2628	GATM	HP:0003648	Lacticaciduria	-	OMIM:134600
2628	GATM	HP:0003646	Bicarbonaturia	HP:0040281	ORPHA:3337
2628	GATM	HP:0025051	Reduced brain creatine level by MRS	-	OMIM:612718
2628	GATM	HP:0004918	Hyperchloremic metabolic acidosis	HP:0040281	ORPHA:3337
2628	GATM	HP:0004912	Hypophosphatemic rickets	HP:0040282	ORPHA:3337
2628	GATM	HP:0004910	Bicarbonate-wasting renal tubular acidosis	HP:0040281	ORPHA:3337
2628	GATM	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:3337
2628	GATM	HP:0012606	Renal sodium wasting	HP:0040282	ORPHA:3337
2628	GATM	HP:0001944	Dehydration	HP:0040283	ORPHA:3337
2628	GATM	HP:0001943	Hypoglycemia	HP:0040284	ORPHA:3337
2628	GATM	HP:0001942	Metabolic acidosis	28/28	OMIM:134600
2628	GATM	HP:0001992	Organic aciduria	-	OMIM:612718
2628	GATM	HP:0004322	Short stature	-	OMIM:134600
2628	GATM	HP:0003076	Glycosuria	28/28	OMIM:134600
2628	GATM	HP:0003076	Glycosuria	HP:0040281	ORPHA:3337
2628	GATM	HP:0003081	Increased urinary potassium	HP:0040282	ORPHA:3337
2628	GATM	HP:0000750	Delayed speech and language development	-	OMIM:612718
2628	GATM	HP:0000717	Autism	-	OMIM:612718
2628	GATM	HP:0011463	Childhood onset	28/28	OMIM:134600
2628	GATM	HP:0003109	Hyperphosphaturia	28/28	OMIM:134600
2628	GATM	HP:0003126	Low-molecular-weight proteinuria	28/28	OMIM:134600
2628	GATM	HP:0003126	Low-molecular-weight proteinuria	HP:0040281	ORPHA:3337
2628	GATM	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:134600
2628	GATM	HP:0003149	Hyperuricosuria	HP:0040281	ORPHA:3337
2628	GATM	HP:0003234	Decreased circulating carnitine concentration	HP:0040282	ORPHA:3337
2628	GATM	HP:0034359	Impaired renal tubular reabsorption of phosphate	1/1	OMIM:134600
2628	GATM	HP:0001508	Failure to thrive	-	OMIM:612718
2628	GATM	HP:0001510	Growth delay	HP:0040281	ORPHA:3337
2628	GATM	HP:0002909	Generalized aminoaciduria	HP:0040281	ORPHA:3337
2628	GATM	HP:0002900	Hypokalemia	0/1	OMIM:134600
2628	GATM	HP:0002900	Hypokalemia	HP:0040282	ORPHA:3337
2628	GATM	HP:0032943	Abnormal urine pH	HP:0040281	ORPHA:3337
2628	GATM	HP:0001824	Weight loss	HP:0040282	ORPHA:3337
2629	GBA1	HP:0002483	Bulbar signs	-	OMIM:230900
2629	GBA1	HP:0007311	Short stepped shuffling gait	-	OMIM:168600
2629	GBA1	HP:0025160	Abnormal temper tantrums	HP:0040284	ORPHA:2072
2629	GBA1	HP:0007272	Progressive psychomotor deterioration	HP:0040282	ORPHA:77260
2629	GBA1	HP:0010885	Avascular necrosis	HP:0040281	ORPHA:77261
2629	GBA1	HP:0010885	Avascular necrosis	-	OMIM:230800
2629	GBA1	HP:0010885	Avascular necrosis	HP:0040281	ORPHA:77259
2629	GBA1	HP:0008551	Microtia	-	OMIM:608013
2629	GBA1	HP:0003745	Sporadic	-	OMIM:168600
2629	GBA1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:77261
2629	GBA1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:77260
2629	GBA1	HP:0001276	Hypertonia	HP:0040283	ORPHA:85212
2629	GBA1	HP:0001276	Hypertonia	HP:0040284	ORPHA:2072
2629	GBA1	HP:0001276	Hypertonia	1/2	OMIM:230900
2629	GBA1	HP:0001270	Motor delay	HP:0040284	ORPHA:2072
2629	GBA1	HP:0001270	Motor delay	-	OMIM:231000
2629	GBA1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:411602
2629	GBA1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:77261
2629	GBA1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:2072
2629	GBA1	HP:0001250	Seizure	HP:0040282	ORPHA:77261
2629	GBA1	HP:0001250	Seizure	HP:0040282	ORPHA:77260
2629	GBA1	HP:0001250	Seizure	HP:0040283	ORPHA:85212
2629	GBA1	HP:0001250	Seizure	-	OMIM:608013
2629	GBA1	HP:0001250	Seizure	-	OMIM:231005
2629	GBA1	HP:0001250	Seizure	HP:0040283	ORPHA:2072
2629	GBA1	HP:0001250	Seizure	-	OMIM:230900
2629	GBA1	HP:0001252	Hypotonia	HP:0040282	ORPHA:77260
2629	GBA1	HP:0001252	Hypotonia	HP:0040282	ORPHA:85212
2629	GBA1	HP:0001251	Ataxia	HP:0040282	ORPHA:77261
2629	GBA1	HP:0001251	Ataxia	-	OMIM:231000
2629	GBA1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2072
2629	GBA1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:2072
2629	GBA1	HP:0001260	Dysarthria	-	OMIM:168600
2629	GBA1	HP:0001263	Global developmental delay	2/2	OMIM:230900
2629	GBA1	HP:0001258	Spastic paraplegia	HP:0040283	ORPHA:2072
2629	GBA1	HP:0001257	Spasticity	HP:0040281	ORPHA:77260
2629	GBA1	HP:0001257	Spasticity	-	OMIM:230900
2629	GBA1	HP:0007401	Macular atrophy	-	OMIM:230800
2629	GBA1	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	HP:0040282	ORPHA:411602
2629	GBA1	HP:0002529	Neuronal loss in central nervous system	-	OMIM:168600
2629	GBA1	HP:0003826	Stillbirth	HP:0040281	ORPHA:85212
2629	GBA1	HP:0003811	Neonatal death	1/1	OMIM:608013
2629	GBA1	HP:0003811	Neonatal death	HP:0040281	ORPHA:85212
2629	GBA1	HP:0000093	Proteinuria	HP:0040283	ORPHA:77261
2629	GBA1	HP:0001399	Hepatic failure	-	OMIM:608013
2629	GBA1	HP:0001399	Hepatic failure	HP:0040284	ORPHA:77259
2629	GBA1	HP:0001394	Cirrhosis	HP:0040284	ORPHA:77259
2629	GBA1	HP:0001371	Flexion contracture	HP:0040282	ORPHA:85212
2629	GBA1	HP:0001371	Flexion contracture	HP:0040282	ORPHA:77260
2629	GBA1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2072
2629	GBA1	HP:0001347	Hyperreflexia	-	OMIM:230900
2629	GBA1	HP:0000027	Azoospermia	HP:0040284	ORPHA:2072
2629	GBA1	HP:0007549	Desquamation of skin soon after birth	-	OMIM:608013
2629	GBA1	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	HP:0040281	ORPHA:85212
2629	GBA1	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	6/6	OMIM:608013
2629	GBA1	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	HP:0040283	ORPHA:77260
2629	GBA1	HP:0001332	Dystonia	HP:0040281	ORPHA:77260
2629	GBA1	HP:0001332	Dystonia	-	OMIM:168600
2629	GBA1	HP:0001332	Dystonia	HP:0040283	ORPHA:411602
2629	GBA1	HP:0002659	Increased susceptibility to fractures	HP:0040281	ORPHA:77261
2629	GBA1	HP:0000012	Urinary urgency	-	OMIM:168600
2629	GBA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608013
2629	GBA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:231005
2629	GBA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:231000
2629	GBA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:230900
2629	GBA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:230800
2629	GBA1	HP:0001337	Tremor	-	OMIM:168600
2629	GBA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:127750
2629	GBA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:168600
2629	GBA1	HP:0001336	Myoclonus	-	OMIM:231000
2629	GBA1	HP:0002653	Bone pain	-	OMIM:230800
2629	GBA1	HP:0002653	Bone pain	HP:0040282	ORPHA:77261
2629	GBA1	HP:0002653	Bone pain	HP:0040281	ORPHA:77259
2629	GBA1	HP:0002650	Scoliosis	HP:0040284	ORPHA:2072
2629	GBA1	HP:0001300	Parkinsonism	HP:0040280	ORPHA:411602
2629	GBA1	HP:0001300	Parkinsonism	-	OMIM:127750
2629	GBA1	HP:0001300	Parkinsonism	-	OMIM:168600
2629	GBA1	HP:0001300	Parkinsonism	HP:0040284	ORPHA:77259
2629	GBA1	HP:0000194	Open mouth	-	OMIM:608013
2629	GBA1	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:77261
2629	GBA1	HP:0000160	Narrow mouth	-	OMIM:608013
2629	GBA1	HP:0002797	Osteolysis	HP:0040281	ORPHA:77261
2629	GBA1	HP:0002797	Osteolysis	HP:0040281	ORPHA:77259
2629	GBA1	HP:0025425	Laryngospasm	HP:0040282	ORPHA:77260
2629	GBA1	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:77260
2629	GBA1	HP:0002758	Osteoarthritis	HP:0040283	ORPHA:77259
2629	GBA1	HP:0002756	Pathologic fracture	-	OMIM:230800
2629	GBA1	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:77259
2629	GBA1	HP:0001433	Hepatosplenomegaly	-	OMIM:608013
2629	GBA1	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:85212
2629	GBA1	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:2072
2629	GBA1	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:77259
2629	GBA1	HP:0001409	Portal hypertension	HP:0040283	ORPHA:77259
2629	GBA1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:77261
2629	GBA1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:77259
2629	GBA1	HP:0002020	Gastroesophageal reflux	1/2	OMIM:230900
2629	GBA1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:85212
2629	GBA1	HP:0002019	Constipation	-	OMIM:168600
2629	GBA1	HP:0002033	Poor suck	HP:0040283	ORPHA:85212
2629	GBA1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:77259
2629	GBA1	HP:0002015	Dysphagia	HP:0040281	ORPHA:77260
2629	GBA1	HP:0002015	Dysphagia	1/2	OMIM:230900
2629	GBA1	HP:0002015	Dysphagia	-	OMIM:168600
2629	GBA1	HP:0002015	Dysphagia	-	OMIM:608013
2629	GBA1	HP:0002015	Dysphagia	HP:0040282	ORPHA:411602
2629	GBA1	HP:0002013	Vomiting	HP:0040282	ORPHA:77260
2629	GBA1	HP:0002089	Pulmonary hypoplasia	1/1	OMIM:608013
2629	GBA1	HP:0002098	Respiratory distress	-	OMIM:608013
2629	GBA1	HP:0002098	Respiratory distress	HP:0040282	ORPHA:77260
2629	GBA1	HP:0002094	Dyspnea	HP:0040282	ORPHA:77260
2629	GBA1	HP:0002094	Dyspnea	-	OMIM:230800
2629	GBA1	HP:0002092	Pulmonary arterial hypertension	9/69	OMIM:230800
2629	GBA1	HP:0002092	Pulmonary arterial hypertension	HP:0040284	ORPHA:2072
2629	GBA1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:77261
2629	GBA1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:77259
2629	GBA1	HP:0002067	Bradykinesia	HP:0040283	ORPHA:411602
2629	GBA1	HP:0002067	Bradykinesia	-	OMIM:168600
2629	GBA1	HP:0003394	Muscle spasm	HP:0040283	ORPHA:411602
2629	GBA1	HP:0002063	Rigidity	HP:0040283	ORPHA:411602
2629	GBA1	HP:0002063	Rigidity	-	OMIM:230900
2629	GBA1	HP:0002063	Rigidity	-	OMIM:168600
2629	GBA1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2072
2629	GBA1	HP:0002070	Limb ataxia	HP:0040284	ORPHA:2072
2629	GBA1	HP:0002040	Esophageal varix	HP:0040284	ORPHA:2072
2629	GBA1	HP:0002039	Anorexia	HP:0040281	ORPHA:77259
2629	GBA1	HP:0002059	Cerebral atrophy	-	OMIM:230900
2629	GBA1	HP:0002123	Generalized myoclonic seizure	-	OMIM:231000
2629	GBA1	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:77261
2629	GBA1	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:77260
2629	GBA1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:411602
2629	GBA1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:2072
2629	GBA1	HP:0002119	Ventriculomegaly	-	OMIM:608013
2629	GBA1	HP:0002100	Recurrent aspiration pneumonia	1/2	OMIM:230900
2629	GBA1	HP:0002113	Pulmonary infiltrates	HP:0040283	OMIM:230800
2629	GBA1	HP:0002104	Apnea	-	OMIM:608013
2629	GBA1	HP:0002104	Apnea	1/2	OMIM:230900
2629	GBA1	HP:0002167	Abnormal speech pattern	-	OMIM:231000
2629	GBA1	HP:0002179	Opisthotonus	HP:0040283	ORPHA:85212
2629	GBA1	HP:0002179	Opisthotonus	-	OMIM:608013
2629	GBA1	HP:0002179	Opisthotonus	HP:0040282	ORPHA:77260
2629	GBA1	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:77259
2629	GBA1	HP:0002171	Gliosis	HP:0040283	ORPHA:411602
2629	GBA1	HP:0002172	Postural instability	HP:0040283	ORPHA:411602
2629	GBA1	HP:0002172	Postural instability	-	OMIM:168600
2629	GBA1	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:85212
2629	GBA1	HP:0010543	Opsoclonus	HP:0040284	ORPHA:2072
2629	GBA1	HP:0003593	Infantile onset	2/2	OMIM:230900
2629	GBA1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:77261
2629	GBA1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:77260
2629	GBA1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:77259
2629	GBA1	HP:0002240	Hepatomegaly	-	OMIM:230800
2629	GBA1	HP:0002240	Hepatomegaly	1/2	OMIM:230900
2629	GBA1	HP:0002240	Hepatomegaly	1/1	OMIM:608013
2629	GBA1	HP:0002240	Hepatomegaly	-	OMIM:231005
2629	GBA1	HP:0002240	Hepatomegaly	-	OMIM:231000
2629	GBA1	HP:0003587	Insidious onset	-	OMIM:168600
2629	GBA1	HP:0003584	Late onset	-	OMIM:168600
2629	GBA1	HP:0003581	Adult onset	-	OMIM:231000
2629	GBA1	HP:0003581	Adult onset	-	OMIM:168600
2629	GBA1	HP:0100710	Impulsivity	HP:0040283	ORPHA:411602
2629	GBA1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:77261
2629	GBA1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:77260
2629	GBA1	HP:0002206	Pulmonary fibrosis	HP:0040283	ORPHA:2072
2629	GBA1	HP:0010702	Increased circulating immunoglobulin concentration	HP:0040282	ORPHA:77261
2629	GBA1	HP:0010702	Increased circulating immunoglobulin concentration	HP:0040283	ORPHA:77259
2629	GBA1	HP:0100753	Schizophrenia	HP:0040284	ORPHA:411602
2629	GBA1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:2072
2629	GBA1	HP:0011968	Feeding difficulties	HP:0040284	ORPHA:2072
2629	GBA1	HP:0011968	Feeding difficulties	1/2	OMIM:230900
2629	GBA1	HP:0011960	Substantia nigra gliosis	-	OMIM:168600
2629	GBA1	HP:0011950	Bronchiolitis	1/2	OMIM:230900
2629	GBA1	HP:0002367	Visual hallucination	HP:0040283	ORPHA:411602
2629	GBA1	HP:0002367	Visual hallucination	-	OMIM:127750
2629	GBA1	HP:0002362	Shuffling gait	HP:0040283	ORPHA:411602
2629	GBA1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:411602
2629	GBA1	HP:0002360	Sleep abnormality	-	OMIM:168600
2629	GBA1	HP:0002359	Frequent falls	HP:0040282	ORPHA:411602
2629	GBA1	HP:0002375	Hypokinesia	-	OMIM:608013
2629	GBA1	HP:0002344	Progressive neurologic deterioration	-	OMIM:608013
2629	GBA1	HP:0002344	Progressive neurologic deterioration	-	OMIM:230900
2629	GBA1	HP:0002344	Progressive neurologic deterioration	-	OMIM:231000
2629	GBA1	HP:0003676	Progressive	-	OMIM:168600
2629	GBA1	HP:0002322	Resting tremor	HP:0040282	ORPHA:411602
2629	GBA1	HP:0002322	Resting tremor	-	OMIM:168600
2629	GBA1	HP:0002315	Headache	HP:0040283	ORPHA:2072
2629	GBA1	HP:0002313	Spastic paraparesis	-	OMIM:231000
2629	GBA1	HP:0004975	Erlenmeyer flask deformity of the femurs	-	OMIM:230800
2629	GBA1	HP:0004975	Erlenmeyer flask deformity of the femurs	HP:0040283	ORPHA:77259
2629	GBA1	HP:0003656	Decreased beta-glucocerebrosidase level	HP:0040282	ORPHA:77260
2629	GBA1	HP:0003656	Decreased beta-glucocerebrosidase level	HP:0040282	ORPHA:2072
2629	GBA1	HP:0003656	Decreased beta-glucocerebrosidase level	HP:0040282	ORPHA:85212
2629	GBA1	HP:0003656	Decreased beta-glucocerebrosidase level	-	OMIM:231000
2629	GBA1	HP:0003656	Decreased beta-glucocerebrosidase level	HP:0040281	ORPHA:77259
2629	GBA1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:411602
2629	GBA1	HP:0010803	Everted upper lip vermilion	-	OMIM:608013
2629	GBA1	HP:0200042	Skin ulcer	HP:0040284	ORPHA:2072
2629	GBA1	HP:0001081	Cholelithiasis	HP:0040284	ORPHA:2072
2629	GBA1	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:77259
2629	GBA1	HP:0007159	Fluctuations in consciousness	-	OMIM:127750
2629	GBA1	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:77259
2629	GBA1	HP:0004963	Calcification of the aorta	-	OMIM:231005
2629	GBA1	HP:0004963	Calcification of the aorta	HP:0040282	ORPHA:77261
2629	GBA1	HP:0004963	Calcification of the aorta	HP:0040282	ORPHA:2072
2629	GBA1	HP:0002304	Akinesia	HP:0040282	ORPHA:411602
2629	GBA1	HP:0002304	Akinesia	-	OMIM:608013
2629	GBA1	HP:0004934	Vascular calcification	-	OMIM:231000
2629	GBA1	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	HP:0040283	ORPHA:411602
2629	GBA1	HP:0031830	Pinguecula	HP:0040282	ORPHA:77259
2629	GBA1	HP:0001971	Hypersplenism	-	OMIM:230800
2629	GBA1	HP:0001971	Hypersplenism	HP:0040281	ORPHA:77259
2629	GBA1	HP:0000651	Diplopia	HP:0040282	ORPHA:411602
2629	GBA1	HP:0000623	Supranuclear ophthalmoplegia	-	OMIM:231005
2629	GBA1	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:77259
2629	GBA1	HP:0000605	Supranuclear gaze palsy	HP:0040284	ORPHA:2072
2629	GBA1	HP:0000605	Supranuclear gaze palsy	HP:0040282	ORPHA:77260
2629	GBA1	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2072
2629	GBA1	HP:0000602	Ophthalmoplegia	HP:0040281	ORPHA:77261
2629	GBA1	HP:0000602	Ophthalmoplegia	1/2	OMIM:230900
2629	GBA1	HP:0000602	Ophthalmoplegia	HP:0040281	ORPHA:77260
2629	GBA1	HP:0001903	Anemia	HP:0040282	ORPHA:77261
2629	GBA1	HP:0001903	Anemia	HP:0040282	ORPHA:77260
2629	GBA1	HP:0001903	Anemia	HP:0040282	ORPHA:77259
2629	GBA1	HP:0001903	Anemia	-	OMIM:230800
2629	GBA1	HP:0001903	Anemia	HP:0040283	ORPHA:2072
2629	GBA1	HP:0001903	Anemia	1/2	OMIM:230900
2629	GBA1	HP:0001903	Anemia	-	OMIM:608013
2629	GBA1	HP:0001903	Anemia	HP:0040282	ORPHA:85212
2629	GBA1	HP:0000674	Anodontia	HP:0040283	ORPHA:77261
2629	GBA1	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:2072
2629	GBA1	HP:0000657	Oculomotor apraxia	1/2	OMIM:230900
2629	GBA1	HP:0000656	Ectropion	HP:0040282	ORPHA:85212
2629	GBA1	HP:0000666	Horizontal nystagmus	-	OMIM:231005
2629	GBA1	HP:0004325	Decreased body weight	-	OMIM:608013
2629	GBA1	HP:0004325	Decreased body weight	-	OMIM:231000
2629	GBA1	HP:0004322	Short stature	HP:0040283	ORPHA:77261
2629	GBA1	HP:0004322	Short stature	HP:0040283	ORPHA:77259
2629	GBA1	HP:0004322	Short stature	-	OMIM:231000
2629	GBA1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	HP:0040282	ORPHA:85212
2629	GBA1	HP:0005619	Thoracolumbar kyphosis	HP:0040284	ORPHA:2072
2629	GBA1	HP:0004382	Mitral valve calcification	-	OMIM:231005
2629	GBA1	HP:0004382	Mitral valve calcification	HP:0040283	ORPHA:77261
2629	GBA1	HP:0004382	Mitral valve calcification	HP:0040282	ORPHA:2072
2629	GBA1	HP:0004380	Aortic valve calcification	HP:0040283	ORPHA:77261
2629	GBA1	HP:0004380	Aortic valve calcification	HP:0040282	ORPHA:2072
2629	GBA1	HP:0004380	Aortic valve calcification	-	OMIM:231005
2629	GBA1	HP:0031908	Micrographia	-	OMIM:168600
2629	GBA1	HP:0000751	Personality changes	-	OMIM:168600
2629	GBA1	HP:0012735	Cough	1/2	OMIM:230900
2629	GBA1	HP:0000767	Pectus excavatum	HP:0040284	ORPHA:2072
2629	GBA1	HP:0000738	Hallucinations	HP:0040283	OMIM:168600
2629	GBA1	HP:0000737	Irritability	HP:0040282	ORPHA:77260
2629	GBA1	HP:0000744	Low frustration tolerance	HP:0040283	ORPHA:411602
2629	GBA1	HP:0000746	Delusion	-	OMIM:127750
2629	GBA1	HP:0000741	Apathy	-	OMIM:608013
2629	GBA1	HP:0000741	Apathy	HP:0040283	ORPHA:411602
2629	GBA1	HP:0000716	Depression	-	OMIM:231000
2629	GBA1	HP:0000716	Depression	HP:0040283	ORPHA:77259
2629	GBA1	HP:0000716	Depression	HP:0040283	ORPHA:411602
2629	GBA1	HP:0000716	Depression	-	OMIM:168600
2629	GBA1	HP:0000713	Agitation	HP:0040283	ORPHA:411602
2629	GBA1	HP:0000726	Dementia	-	OMIM:231000
2629	GBA1	HP:0000726	Dementia	HP:0040282	ORPHA:77261
2629	GBA1	HP:0000726	Dementia	HP:0040284	ORPHA:411602
2629	GBA1	HP:0000726	Dementia	-	OMIM:127750
2629	GBA1	HP:0000726	Dementia	-	OMIM:168600
2629	GBA1	HP:0011463	Childhood onset	-	OMIM:231000
2629	GBA1	HP:0011461	Fetal onset	1/1	OMIM:608013
2629	GBA1	HP:0000790	Hematuria	HP:0040283	ORPHA:77261
2629	GBA1	HP:0000790	Hematuria	HP:0040283	ORPHA:77259
2629	GBA1	HP:0004409	Hyposmia	HP:0040282	ORPHA:411602
2629	GBA1	HP:0004406	Spontaneous, recurrent epistaxis	HP:0040283	ORPHA:2072
2629	GBA1	HP:0003196	Short nose	-	OMIM:608013
2629	GBA1	HP:0100315	Lewy bodies	HP:0040283	ORPHA:411602
2629	GBA1	HP:0100315	Lewy bodies	-	OMIM:168600
2629	GBA1	HP:0100315	Lewy bodies	-	OMIM:127750
2629	GBA1	HP:0000822	Hypertension	-	OMIM:230800
2629	GBA1	HP:0000823	Delayed puberty	HP:0040282	ORPHA:77261
2629	GBA1	HP:0000823	Delayed puberty	HP:0040281	ORPHA:77259
2629	GBA1	HP:0011590	Double aortic arch	1/2	OMIM:230900
2629	GBA1	HP:0003233	Decreased HDL cholesterol concentration	HP:0040283	ORPHA:77259
2629	GBA1	HP:0003281	Increased circulating ferritin concentration	HP:0040282	ORPHA:77259
2629	GBA1	HP:0010307	Stridor	1/2	OMIM:230900
2629	GBA1	HP:0010307	Stridor	HP:0040282	ORPHA:77260
2629	GBA1	HP:0000979	Purpura	-	OMIM:608013
2629	GBA1	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:77259
2629	GBA1	HP:0000974	Hyperextensible skin	HP:0040284	ORPHA:2072
2629	GBA1	HP:0034336	Splenic infarction	HP:0040283	ORPHA:77259
2629	GBA1	HP:0000953	Hyperpigmentation of the skin	-	OMIM:230800
2629	GBA1	HP:0000967	Petechiae	-	OMIM:608013
2629	GBA1	HP:0000962	Hyperkeratosis	-	OMIM:608013
2629	GBA1	HP:0000939	Osteoporosis	HP:0040281	ORPHA:77259
2629	GBA1	HP:0000938	Osteopenia	HP:0040282	ORPHA:77261
2629	GBA1	HP:0000938	Osteopenia	HP:0040281	ORPHA:77259
2629	GBA1	HP:0008064	Ichthyosis	-	OMIM:608013
2629	GBA1	HP:0008064	Ichthyosis	HP:0040281	ORPHA:85212
2629	GBA1	HP:0008064	Ichthyosis	HP:0040283	ORPHA:77260
2629	GBA1	HP:0000278	Retrognathia	-	OMIM:608013
2629	GBA1	HP:0000298	Mask-like facies	-	OMIM:168600
2629	GBA1	HP:0007759	Opacification of the corneal stroma	-	OMIM:231005
2629	GBA1	HP:0002804	Arthrogryposis multiplex congenita	1/1	OMIM:608013
2629	GBA1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:85212
2629	GBA1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:77260
2629	GBA1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2072
2629	GBA1	HP:0000238	Hydrocephalus	-	OMIM:231005
2629	GBA1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:85212
2629	GBA1	HP:0000252	Microcephaly	-	OMIM:608013
2629	GBA1	HP:0032640	Elevated circulating CCL18 level	HP:0040283	ORPHA:77259
2629	GBA1	HP:0012223	Splenic rupture	HP:0040284	ORPHA:77259
2629	GBA1	HP:0000248	Brachycephaly	HP:0040284	ORPHA:2072
2629	GBA1	HP:0000218	High palate	HP:0040282	ORPHA:85212
2629	GBA1	HP:0001561	Polyhydramnios	-	OMIM:608013
2629	GBA1	HP:0000232	Everted lower lip vermilion	-	OMIM:608013
2629	GBA1	HP:0001558	Decreased fetal movement	1/1	OMIM:608013
2629	GBA1	HP:0001558	Decreased fetal movement	HP:0040281	ORPHA:85212
2629	GBA1	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:77259
2629	GBA1	HP:0001522	Death in infancy	HP:0040281	ORPHA:85212
2629	GBA1	HP:0001522	Death in infancy	1/2	OMIM:230900
2629	GBA1	HP:0000211	Trismus	-	OMIM:230900
2629	GBA1	HP:0000211	Trismus	HP:0040282	ORPHA:77260
2629	GBA1	HP:0001541	Ascites	-	OMIM:608013
2629	GBA1	HP:0001541	Ascites	HP:0040283	ORPHA:77259
2629	GBA1	HP:0001538	Protuberant abdomen	-	OMIM:230900
2629	GBA1	HP:0031364	Ecchymosis	HP:0040284	ORPHA:2072
2629	GBA1	HP:0001508	Failure to thrive	2/2	OMIM:230900
2629	GBA1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:85212
2629	GBA1	HP:0001511	Intrauterine growth retardation	-	OMIM:608013
2629	GBA1	HP:0001510	Growth delay	HP:0040282	ORPHA:77261
2629	GBA1	HP:0001510	Growth delay	HP:0040281	ORPHA:77259
2629	GBA1	HP:0001510	Growth delay	HP:0040283	ORPHA:2072
2629	GBA1	HP:0007817	Horizontal supranuclear gaze palsy	-	OMIM:231000
2629	GBA1	HP:0012378	Fatigue	HP:0040281	ORPHA:77261
2629	GBA1	HP:0005257	Thoracic hypoplasia	-	OMIM:608013
2629	GBA1	HP:0005230	Biliary tract obstruction	HP:0040283	ORPHA:77259
2629	GBA1	HP:0007885	Slowed horizontal saccades	-	OMIM:231005
2629	GBA1	HP:0007885	Slowed horizontal saccades	HP:0040282	ORPHA:77261
2629	GBA1	HP:0006530	Abnormal pulmonary interstitial morphology	-	OMIM:230800
2629	GBA1	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040284	ORPHA:2072
2629	GBA1	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040283	ORPHA:77261
2629	GBA1	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040282	ORPHA:77260
2629	GBA1	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040283	ORPHA:77259
2629	GBA1	HP:0002908	Conjugated hyperbilirubinemia	HP:0040282	ORPHA:85212
2629	GBA1	HP:0001695	Cardiac arrest	HP:0040283	ORPHA:77260
2629	GBA1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:85212
2629	GBA1	HP:0031435	Monotonic speech	HP:0040283	ORPHA:411602
2629	GBA1	HP:0001698	Pericardial effusion	HP:0040283	ORPHA:77261
2629	GBA1	HP:0000369	Low-set ears	-	OMIM:608013
2629	GBA1	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	OMIM:168600
2629	GBA1	HP:0011001	Increased bone mineral density	HP:0040282	ORPHA:77261
2629	GBA1	HP:0000338	Hypomimic face	HP:0040283	ORPHA:411602
2629	GBA1	HP:0000347	Micrognathia	-	OMIM:608013
2629	GBA1	HP:0001650	Aortic valve stenosis	1/69	OMIM:230800
2629	GBA1	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:2072
2629	GBA1	HP:0000316	Hypertelorism	-	OMIM:608013
2629	GBA1	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:77261
2629	GBA1	HP:0001653	Mitral regurgitation	33/69	OMIM:230800
2629	GBA1	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:2072
2629	GBA1	HP:0000325	Triangular face	-	OMIM:608013
2629	GBA1	HP:0002953	Vertebral compression fracture	-	OMIM:230800
2629	GBA1	HP:0002953	Vertebral compression fracture	HP:0040283	ORPHA:77259
2629	GBA1	HP:0001621	Weak voice	-	OMIM:168600
2629	GBA1	HP:0001622	Premature birth	-	OMIM:608013
2629	GBA1	HP:0001640	Cardiomegaly	-	OMIM:608013
2629	GBA1	HP:0001640	Cardiomegaly	-	OMIM:231005
2629	GBA1	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:77261
2629	GBA1	HP:0007957	Corneal opacity	HP:0040283	ORPHA:85212
2629	GBA1	HP:0007957	Corneal opacity	HP:0040282	ORPHA:2072
2629	GBA1	HP:0006689	Bacterial endocarditis	HP:0040284	ORPHA:2072
2629	GBA1	HP:0005340	Spastic/hyperactive bladder	HP:0040282	ORPHA:411602
2629	GBA1	HP:0007975	Hypometric horizontal saccades	-	OMIM:231005
2629	GBA1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2072
2629	GBA1	HP:0001718	Mitral stenosis	HP:0040283	ORPHA:2072
2629	GBA1	HP:0001718	Mitral stenosis	-	OMIM:231005
2629	GBA1	HP:0001714	Ventricular hypertrophy	HP:0040283	ORPHA:2072
2629	GBA1	HP:0005280	Depressed nasal bridge	-	OMIM:608013
2629	GBA1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:85212
2629	GBA1	HP:0000486	Strabismus	HP:0040281	ORPHA:77261
2629	GBA1	HP:0000486	Strabismus	HP:0040281	ORPHA:77260
2629	GBA1	HP:0000486	Strabismus	HP:0040283	ORPHA:2072
2629	GBA1	HP:0000486	Strabismus	2/4	OMIM:230900
2629	GBA1	HP:0000486	Strabismus	-	OMIM:608013
2629	GBA1	HP:0000486	Strabismus	-	OMIM:231005
2629	GBA1	HP:0000486	Strabismus	-	OMIM:231000
2629	GBA1	HP:0000478	Abnormality of the eye	-	OMIM:230800
2629	GBA1	HP:0000463	Anteverted nares	-	OMIM:608013
2629	GBA1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:85212
2629	GBA1	HP:0001790	Nonimmune hydrops fetalis	HP:0040283	ORPHA:85212
2629	GBA1	HP:0001790	Nonimmune hydrops fetalis	1/1	OMIM:608013
2629	GBA1	HP:0001790	Nonimmune hydrops fetalis	HP:0040283	ORPHA:77260
2629	GBA1	HP:0012450	Chronic constipation	HP:0040282	ORPHA:411602
2629	GBA1	HP:0001789	Hydrops fetalis	HP:0040282	ORPHA:77261
2629	GBA1	HP:0001744	Splenomegaly	HP:0040281	ORPHA:77261
2629	GBA1	HP:0001744	Splenomegaly	HP:0040281	ORPHA:77260
2629	GBA1	HP:0001744	Splenomegaly	HP:0040281	ORPHA:77259
2629	GBA1	HP:0001744	Splenomegaly	-	OMIM:230800
2629	GBA1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:2072
2629	GBA1	HP:0001744	Splenomegaly	1/2	OMIM:230900
2629	GBA1	HP:0001744	Splenomegaly	1/1	OMIM:608013
2629	GBA1	HP:0001744	Splenomegaly	-	OMIM:231005
2629	GBA1	HP:0001744	Splenomegaly	-	OMIM:231000
2629	GBA1	HP:0001761	Pes cavus	HP:0040283	ORPHA:2072
2629	GBA1	HP:0001761	Pes cavus	-	OMIM:231005
2629	GBA1	HP:0000421	Epistaxis	-	OMIM:230800
2629	GBA1	HP:0006775	Multiple myeloma	-	OMIM:230800
2629	GBA1	HP:0006775	Multiple myeloma	HP:0040283	ORPHA:77259
2629	GBA1	HP:0001822	Hallux valgus	HP:0040283	ORPHA:2072
2629	GBA1	HP:0001824	Weight loss	HP:0040283	ORPHA:411602
2629	GBA1	HP:0000508	Ptosis	HP:0040284	ORPHA:2072
2629	GBA1	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:77259
2629	GBA1	HP:0000570	Abnormal saccadic eye movements	HP:0040284	ORPHA:2072
2629	GBA1	HP:0000565	Esotropia	-	OMIM:230900
2629	GBA1	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:77259
2629	GBA1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:77261
2629	GBA1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:77260
2629	GBA1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:77259
2629	GBA1	HP:0001873	Thrombocytopenia	-	OMIM:230800
2629	GBA1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:2072
2629	GBA1	HP:0001873	Thrombocytopenia	1/2	OMIM:230900
2629	GBA1	HP:0001873	Thrombocytopenia	1/1	OMIM:608013
2629	GBA1	HP:0001873	Thrombocytopenia	-	OMIM:231000
2629	GBA1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:85212
2629	GBA1	HP:0001876	Pancytopenia	-	OMIM:231005
2629	GBA1	HP:0001876	Pancytopenia	-	OMIM:231000
2629	GBA1	HP:0001876	Pancytopenia	HP:0040281	ORPHA:85212
2629	GBA1	HP:0001876	Pancytopenia	-	OMIM:230800
2629	GBA1	HP:0001876	Pancytopenia	HP:0040283	ORPHA:2072
2629	GBA1	HP:0001876	Pancytopenia	HP:0040282	ORPHA:77261
2629	GBA1	HP:0001876	Pancytopenia	HP:0040282	ORPHA:77259
2632	GBE1	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:206583
2632	GBE1	HP:0001278	Orthostatic hypotension	HP:0040283	OMIM:263570
2632	GBE1	HP:0001269	Hemiparesis	HP:0040281	ORPHA:206583
2632	GBE1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:206583
2632	GBE1	HP:0001288	Gait disturbance	7/7	OMIM:263570
2632	GBE1	HP:0001252	Hypotonia	1/2	OMIM:232500
2632	GBE1	HP:0001251	Ataxia	HP:0040283	ORPHA:206583
2632	GBE1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:206583
2632	GBE1	HP:0001265	Hyporeflexia	1/2	OMIM:232500
2632	GBE1	HP:0001258	Spastic paraplegia	7/7	OMIM:263570
2632	GBE1	HP:0001257	Spasticity	HP:0040281	ORPHA:206583
2632	GBE1	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:263570
2632	GBE1	HP:0001399	Hepatic failure	-	OMIM:232500
2632	GBE1	HP:0001394	Cirrhosis	-	OMIM:232500
2632	GBE1	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:206583
2632	GBE1	HP:0001371	Flexion contracture	1/2	OMIM:232500
2632	GBE1	HP:0000020	Urinary incontinence	HP:0040281	ORPHA:206583
2632	GBE1	HP:0000020	Urinary incontinence	7/7	OMIM:263570
2632	GBE1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:206583
2632	GBE1	HP:0001324	Muscle weakness	-	OMIM:232500
2632	GBE1	HP:0000011	Neurogenic bladder	HP:0040281	ORPHA:206583
2632	GBE1	HP:0000011	Neurogenic bladder	-	OMIM:263570
2632	GBE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:263570
2632	GBE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:232500
2632	GBE1	HP:0001315	Reduced tendon reflexes	-	OMIM:232500
2632	GBE1	HP:0001433	Hepatosplenomegaly	-	OMIM:232500
2632	GBE1	HP:0001409	Portal hypertension	-	OMIM:232500
2632	GBE1	HP:0100543	Cognitive impairment	7/7	OMIM:263570
2632	GBE1	HP:0003394	Muscle spasm	1/7	OMIM:263570
2632	GBE1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:206583
2632	GBE1	HP:0002040	Esophageal varix	-	OMIM:232500
2632	GBE1	HP:0003477	Peripheral axonal neuropathy	-	OMIM:263570
2632	GBE1	HP:0003457	EMG abnormality	HP:0040283	ORPHA:206583
2632	GBE1	HP:0002127	Abnormal upper motor neuron morphology	-	OMIM:263570
2632	GBE1	HP:0003438	Absent Achilles reflex	6/7	OMIM:263570
2632	GBE1	HP:0003401	Paresthesia	5/7	OMIM:263570
2632	GBE1	HP:0003596	Middle age onset	7/7	OMIM:263570
2632	GBE1	HP:0002273	Tetraparesis	-	OMIM:263570
2632	GBE1	HP:0003677	Slowly progressive	-	OMIM:263570
2632	GBE1	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:206583
2632	GBE1	HP:0200042	Skin ulcer	HP:0040282	ORPHA:206583
2632	GBE1	HP:0005576	Tubulointerstitial fibrosis	-	OMIM:232500
2632	GBE1	HP:0034197	Third trimester onset	2/2	OMIM:232500
2632	GBE1	HP:0000726	Dementia	HP:0040283	ORPHA:206583
2632	GBE1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:206583
2632	GBE1	HP:0040081	Abnormal circulating creatine kinase concentration	0/2	OMIM:232500
2632	GBE1	HP:0003202	Skeletal muscle atrophy	-	OMIM:232500
2632	GBE1	HP:0000969	Edema	-	OMIM:232500
2632	GBE1	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:232500
2632	GBE1	HP:0001561	Polyhydramnios	2/2	OMIM:232500
2632	GBE1	HP:0001558	Decreased fetal movement	2/2	OMIM:232500
2632	GBE1	HP:0001541	Ascites	-	OMIM:232500
2632	GBE1	HP:0001508	Failure to thrive	-	OMIM:232500
2632	GBE1	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040281	ORPHA:206583
2632	GBE1	HP:0002936	Distal sensory impairment	HP:0040282	ORPHA:206583
2632	GBE1	HP:0002936	Distal sensory impairment	7/7	OMIM:263570
2632	GBE1	HP:0002922	Increased CSF protein concentration	2/7	OMIM:263570
2632	GBE1	HP:0001662	Bradycardia	1/2	OMIM:232500
2632	GBE1	HP:0001638	Cardiomyopathy	-	OMIM:232500
2632	GBE1	HP:0001789	Hydrops fetalis	-	OMIM:232500
2632	GBE1	HP:0001762	Talipes equinovarus	1/2	OMIM:232500
2639	GCDH	HP:0100952	Enlarged sylvian cistern	6/7	OMIM:231670
2639	GCDH	HP:0100954	Open operculum	HP:0040282	ORPHA:25
2639	GCDH	HP:0002451	Limb dystonia	HP:0040283	ORPHA:25
2639	GCDH	HP:0410175	Hyperketonemia	-	OMIM:231670
2639	GCDH	HP:0001298	Encephalopathy	32/53	OMIM:231670
2639	GCDH	HP:0001290	Generalized hypotonia	-	OMIM:231670
2639	GCDH	HP:0001250	Seizure	HP:0040283	ORPHA:25
2639	GCDH	HP:0001250	Seizure	21/60	OMIM:231670
2639	GCDH	HP:0001252	Hypotonia	-	OMIM:231670
2639	GCDH	HP:0001251	Ataxia	HP:0040283	ORPHA:25
2639	GCDH	HP:0001264	Spastic diplegia	-	OMIM:231670
2639	GCDH	HP:0001266	Choreoathetosis	-	OMIM:231670
2639	GCDH	HP:0001260	Dysarthria	HP:0040282	ORPHA:25
2639	GCDH	HP:0001263	Global developmental delay	-	OMIM:231670
2639	GCDH	HP:0002540	Inability to walk	5/7	OMIM:231670
2639	GCDH	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:25
2639	GCDH	HP:0001373	Joint dislocation	HP:0040283	ORPHA:25
2639	GCDH	HP:0001332	Dystonia	HP:0040282	ORPHA:25
2639	GCDH	HP:0001332	Dystonia	41/60	OMIM:231670
2639	GCDH	HP:0001344	Absent speech	5/7	OMIM:231670
2639	GCDH	HP:0000007	Autosomal recessive inheritance	-	OMIM:231670
2639	GCDH	HP:0001334	Communicating hydrocephalus	HP:0040282	ORPHA:25
2639	GCDH	HP:0001337	Tremor	HP:0040283	ORPHA:25
2639	GCDH	HP:0002015	Dysphagia	HP:0040282	ORPHA:25
2639	GCDH	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:25
2639	GCDH	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:25
2639	GCDH	HP:0002063	Rigidity	HP:0040283	ORPHA:25
2639	GCDH	HP:0002063	Rigidity	-	OMIM:231670
2639	GCDH	HP:0002072	Chorea	HP:0040283	ORPHA:25
2639	GCDH	HP:0002059	Cerebral atrophy	1/7	OMIM:231670
2639	GCDH	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:25
2639	GCDH	HP:0002134	Abnormal basal ganglia morphology	HP:0040281	ORPHA:25
2639	GCDH	HP:0002179	Opisthotonus	-	OMIM:231670
2639	GCDH	HP:0003593	Infantile onset	44/59	OMIM:231670
2639	GCDH	HP:0002275	Poor motor coordination	HP:0040282	ORPHA:25
2639	GCDH	HP:0002240	Hepatomegaly	-	OMIM:231670
2639	GCDH	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:25
2639	GCDH	HP:0003530	Elevated circulating glutaric acid concentration	-	OMIM:231670
2639	GCDH	HP:0009716	Subependymal nodules	HP:0040282	ORPHA:25
2639	GCDH	HP:0034656	Elevated urine 3-hydroxyglutaric level	7/7	OMIM:231670
2639	GCDH	HP:0034688	Reduced peroxisomal glutaryl-CoA oxidase activity	181/181	OMIM:231670
2639	GCDH	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:25
2639	GCDH	HP:0002376	Developmental regression	HP:0040283	ORPHA:25
2639	GCDH	HP:0002376	Developmental regression	2/7	OMIM:231670
2639	GCDH	HP:0002339	Abnormal caudate nucleus morphology	HP:0040282	ORPHA:25
2639	GCDH	HP:0002321	Vertigo	HP:0040283	ORPHA:25
2639	GCDH	HP:0002315	Headache	HP:0040282	ORPHA:25
2639	GCDH	HP:0009830	Peripheral neuropathy	HP:0040284	ORPHA:25
2639	GCDH	HP:0007132	Pallidal degeneration	HP:0040282	ORPHA:25
2639	GCDH	HP:0007105	Infantile encephalopathy	-	OMIM:231670
2639	GCDH	HP:0003623	Neonatal onset	1/52	OMIM:231670
2639	GCDH	HP:0002305	Athetosis	HP:0040282	ORPHA:25
2639	GCDH	HP:0003621	Juvenile onset	3/52	OMIM:231670
2639	GCDH	HP:0007185	Loss of consciousness	HP:0040283	ORPHA:25
2639	GCDH	HP:0033442	Elevated circulating glutarylcarnitine concentration	4/4	OMIM:231670
2639	GCDH	HP:0006873	Symmetrical progressive peripheral demyelination	-	OMIM:231670
2639	GCDH	HP:0006846	Acute encephalopathy	3/7	OMIM:231670
2639	GCDH	HP:0006829	Severe muscular hypotonia	HP:0040283	ORPHA:25
2639	GCDH	HP:0012622	Chronic kidney disease	HP:0040284	ORPHA:25
2639	GCDH	HP:0001943	Hypoglycemia	-	OMIM:231670
2639	GCDH	HP:0001946	Ketosis	-	OMIM:231670
2639	GCDH	HP:0001942	Metabolic acidosis	-	OMIM:231670
2639	GCDH	HP:0006956	Lateral ventricle dilatation	-	OMIM:231670
2639	GCDH	HP:0031982	Abnormal putamen morphology	HP:0040282	ORPHA:25
2639	GCDH	HP:0000737	Irritability	3/7	OMIM:231670
2639	GCDH	HP:0000750	Delayed speech and language development	15/52	OMIM:231670
2639	GCDH	HP:0012704	Widened subarachnoid space	HP:0040282	ORPHA:25
2639	GCDH	HP:0000726	Dementia	HP:0040283	ORPHA:25
2639	GCDH	HP:0011463	Childhood onset	11/52	OMIM:231670
2639	GCDH	HP:0012753	T2 hypointense basal ganglia	HP:0040282	ORPHA:25
2639	GCDH	HP:0100309	Subdural hemorrhage	HP:0040283	ORPHA:25
2639	GCDH	HP:0100309	Subdural hemorrhage	6/7	OMIM:231670
2639	GCDH	HP:0003150	Glutaric aciduria	HP:0040281	ORPHA:25
2639	GCDH	HP:0003150	Glutaric aciduria	54/60	OMIM:231670
2639	GCDH	HP:0004481	Progressive macrocephaly	HP:0040282	ORPHA:25
2639	GCDH	HP:0003162	Fasting hypoglycemia	HP:0040283	ORPHA:25
2639	GCDH	HP:0040194	Increased head circumference	HP:0040282	ORPHA:25
2639	GCDH	HP:0000256	Macrocephaly	40/60	OMIM:231670
2639	GCDH	HP:0000238	Hydrocephalus	9/59	OMIM:231670
2639	GCDH	HP:0001508	Failure to thrive	-	OMIM:231670
2639	GCDH	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:25
2639	GCDH	HP:0002919	Ketonuria	-	OMIM:231670
2639	GCDH	HP:0012469	Infantile spasms	HP:0040283	ORPHA:25
2639	GCDH	HP:0000573	Retinal hemorrhage	HP:0040283	ORPHA:25
2642	GCGR	HP:0031181	Necrolytic migratory erythema	-	ORPHA:438274
2642	GCGR	HP:0000007	Autosomal recessive inheritance	-	OMIM:619290
2642	GCGR	HP:0002027	Abdominal pain	1/3	OMIM:619290
2642	GCGR	HP:0002027	Abdominal pain	HP:0040282	ORPHA:438274
2642	GCGR	HP:0005978	Type II diabetes mellitus	1/3	OMIM:619290
2642	GCGR	HP:0002044	Zollinger-Ellison syndrome	-	ORPHA:438274
2642	GCGR	HP:0003581	Adult onset	4/4	OMIM:619290
2642	GCGR	HP:0002321	Vertigo	1/1	OMIM:619290
2642	GCGR	HP:0001081	Cholelithiasis	HP:0040282	ORPHA:438274
2642	GCGR	HP:4000061	Pancreatic alpha-cell hyperplasia	3/3	OMIM:619290
2642	GCGR	HP:0001962	Palpitations	1/1	OMIM:619290
2642	GCGR	HP:0030688	Increased glucagon level	3/3	OMIM:619290
2642	GCGR	HP:0030688	Increased glucagon level	HP:0040280	ORPHA:438274
2642	GCGR	HP:0100027	Recurrent pancreatitis	1/3	OMIM:619290
2642	GCGR	HP:0000819	Diabetes mellitus	-	ORPHA:438274
2642	GCGR	HP:0010280	Stomatitis	-	ORPHA:438274
2642	GCGR	HP:0002894	Neoplasm of the pancreas	HP:0040282	ORPHA:438274
2642	GCGR	HP:0012440	Abnormal biliary tract morphology	HP:0040282	ORPHA:438274
2642	GCGR	HP:0030404	Glucagonoma	HP:0040282	ORPHA:438274
2643	GCH1	HP:0002487	Hyperkinetic movements	-	OMIM:233910
2643	GCH1	HP:0003785	Decreased CSF homovanillic acid concentration	HP:0040282	ORPHA:98808
2643	GCH1	HP:0003781	Excessive salivation	-	OMIM:233910
2643	GCH1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:98808
2643	GCH1	HP:0007325	Generalized dystonia	HP:0040283	ORPHA:98808
2643	GCH1	HP:0001290	Generalized hypotonia	1/1	OMIM:233910
2643	GCH1	HP:0001254	Lethargy	-	OMIM:233910
2643	GCH1	HP:0001250	Seizure	1/1	OMIM:233910
2643	GCH1	HP:0001252	Hypotonia	1/1	OMIM:233910
2643	GCH1	HP:0001251	Ataxia	HP:0040282	ORPHA:98808
2643	GCH1	HP:0001249	Intellectual disability	-	ORPHA:98808
2643	GCH1	HP:0001266	Choreoathetosis	1/1	OMIM:233910
2643	GCH1	HP:0001260	Dysarthria	2/4	OMIM:128230
2643	GCH1	HP:0001263	Global developmental delay	2/2	OMIM:233910
2643	GCH1	HP:0001257	Spasticity	1/4	OMIM:128230
2643	GCH1	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	4/4	OMIM:128230
2643	GCH1	HP:0002509	Limb hypertonia	-	OMIM:233910
2643	GCH1	HP:0500223	Increased CSF phenylalanine concentration	1/1	OMIM:233910
2643	GCH1	HP:0033683	Jaw hyperreflexia	2/4	OMIM:128230
2643	GCH1	HP:0001370	Rheumatoid arthritis	HP:0040283	ORPHA:98808
2643	GCH1	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:98808
2643	GCH1	HP:0001347	Hyperreflexia	4/4	OMIM:128230
2643	GCH1	HP:0001332	Dystonia	1/1	OMIM:233910
2643	GCH1	HP:0001332	Dystonia	4/4	OMIM:128230
2643	GCH1	HP:0000007	Autosomal recessive inheritance	HP:0040283	OMIM:128230
2643	GCH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:233910
2643	GCH1	HP:0001337	Tremor	1/1	OMIM:233910
2643	GCH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:128230
2643	GCH1	HP:0002650	Scoliosis	-	OMIM:128230
2643	GCH1	HP:0002650	Scoliosis	HP:0040283	ORPHA:98808
2643	GCH1	HP:0001300	Parkinsonism	HP:0040282	ORPHA:98808
2643	GCH1	HP:0002601	Paresis of extensor muscles of the big toe	HP:0040283	ORPHA:98808
2643	GCH1	HP:0002033	Poor suck	1/1	OMIM:233910
2643	GCH1	HP:0002015	Dysphagia	-	OMIM:233910
2643	GCH1	HP:6000120	Elevated urinary sulfatide level	-	OMIM:233910
2643	GCH1	HP:0002067	Bradykinesia	2/4	OMIM:128230
2643	GCH1	HP:0002067	Bradykinesia	HP:0040283	ORPHA:98808
2643	GCH1	HP:0002066	Gait ataxia	2/4	OMIM:128230
2643	GCH1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:98808
2643	GCH1	HP:0002063	Rigidity	HP:0040282	ORPHA:98808
2643	GCH1	HP:0002063	Rigidity	-	OMIM:233910
2643	GCH1	HP:0002075	Dysdiadochokinesis	2/4	OMIM:128230
2643	GCH1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:98808
2643	GCH1	HP:0040417	Decreased urinary biopterin level	1/1	OMIM:233910
2643	GCH1	HP:0003487	Babinski sign	3/4	OMIM:128230
2643	GCH1	HP:0003487	Babinski sign	HP:0040282	ORPHA:98808
2643	GCH1	HP:0040420	Decreased urinary neopterin level	1/1	OMIM:233910
2643	GCH1	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040283	ORPHA:98808
2643	GCH1	HP:0002174	Postural tremor	-	OMIM:128230
2643	GCH1	HP:0002174	Postural tremor	HP:0040282	ORPHA:98808
2643	GCH1	HP:0008297	Transient hyperphenylalaninemia	HP:0040282	ORPHA:98808
2643	GCH1	HP:0008297	Transient hyperphenylalaninemia	-	OMIM:128230
2643	GCH1	HP:0003593	Infantile onset	1/1	OMIM:233910
2643	GCH1	HP:0011968	Feeding difficulties	1/1	OMIM:233910
2643	GCH1	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:98808
2643	GCH1	HP:0002396	Cogwheel rigidity	1/4	OMIM:128230
2643	GCH1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:98808
2643	GCH1	HP:0002344	Progressive neurologic deterioration	-	OMIM:233910
2643	GCH1	HP:0002356	Writer's cramp	-	OMIM:128230
2643	GCH1	HP:0002322	Resting tremor	1/4	OMIM:128230
2643	GCH1	HP:0003623	Neonatal onset	1/1	OMIM:233910
2643	GCH1	HP:0002311	Incoordination	2/4	OMIM:128230
2643	GCH1	HP:0004923	Hyperphenylalaninemia	2/2	OMIM:233910
2643	GCH1	HP:0006829	Severe muscular hypotonia	-	OMIM:233910
2643	GCH1	HP:0006886	Impaired distal vibration sensation	1/4	OMIM:128230
2643	GCH1	HP:0006887	Intellectual disability, progressive	-	OMIM:233910
2643	GCH1	HP:0001954	Recurrent fever	-	OMIM:233910
2643	GCH1	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:98808
2643	GCH1	HP:0004373	Focal dystonia	HP:0040282	ORPHA:98808
2643	GCH1	HP:0000737	Irritability	-	OMIM:233910
2643	GCH1	HP:0000739	Anxiety	HP:0040282	ORPHA:98808
2643	GCH1	HP:0000716	Depression	HP:0040282	ORPHA:98808
2643	GCH1	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:98808
2643	GCH1	HP:0011463	Childhood onset	-	OMIM:128230
2643	GCH1	HP:0000822	Hypertension	HP:0040283	ORPHA:98808
2643	GCH1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:98808
2643	GCH1	HP:0005876	Progressive flexion contractures	HP:0040283	ORPHA:98808
2643	GCH1	HP:0045007	Abnormal substantia nigra morphology	HP:0040282	ORPHA:98808
2643	GCH1	HP:0012378	Fatigue	HP:0040282	ORPHA:98808
2643	GCH1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:98808
2643	GCH1	HP:0007979	Gaze-evoked horizontal nystagmus	4/4	OMIM:128230
2643	GCH1	HP:0000496	Abnormality of eye movement	-	OMIM:233910
2643	GCH1	HP:0000473	Torticollis	3/4	OMIM:128230
2643	GCH1	HP:0000473	Torticollis	HP:0040282	ORPHA:98808
2643	GCH1	HP:0001762	Talipes equinovarus	-	OMIM:128230
2643	GCH1	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:98808
2643	GCH1	HP:0001761	Pes cavus	2/4	OMIM:128230
2643	GCH1	HP:0001761	Pes cavus	HP:0040282	ORPHA:98808
2645	GCK	HP:0010935	Abnormality of the upper urinary tract	HP:0040283	ORPHA:99885
2645	GCK	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:99885
2645	GCK	HP:0001270	Motor delay	HP:0040282	ORPHA:99885
2645	GCK	HP:0001250	Seizure	HP:0040282	ORPHA:79299
2645	GCK	HP:0001252	Hypotonia	HP:0040283	ORPHA:99885
2645	GCK	HP:0001251	Ataxia	HP:0040283	ORPHA:99885
2645	GCK	HP:0001249	Intellectual disability	HP:0040282	ORPHA:99885
2645	GCK	HP:0001249	Intellectual disability	-	OMIM:602485
2645	GCK	HP:0002594	Pancreatic hypoplasia	HP:0040284	ORPHA:552
2645	GCK	HP:0002594	Pancreatic hypoplasia	HP:0040283	ORPHA:99885
2645	GCK	HP:0001263	Global developmental delay	HP:0040282	ORPHA:99885
2645	GCK	HP:0001259	Coma	HP:0040283	ORPHA:99885
2645	GCK	HP:0001259	Coma	HP:0040283	ORPHA:79299
2645	GCK	HP:0000077	Abnormality of the kidney	HP:0040284	ORPHA:552
2645	GCK	HP:0012028	Hepatocellular adenoma	HP:0040284	ORPHA:552
2645	GCK	HP:0001324	Muscle weakness	HP:0040282	ORPHA:79299
2645	GCK	HP:0001325	Hypoglycemic coma	-	OMIM:602485
2645	GCK	HP:0000007	Autosomal recessive inheritance	-	OMIM:606176
2645	GCK	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
2645	GCK	HP:0000006	Autosomal dominant inheritance	-	OMIM:125851
2645	GCK	HP:0000006	Autosomal dominant inheritance	-	OMIM:602485
2645	GCK	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:99885
2645	GCK	HP:0006274	Reduced pancreatic beta cells	HP:0040281	ORPHA:99885
2645	GCK	HP:0000119	Abnormality of the genitourinary system	HP:0040284	ORPHA:552
2645	GCK	HP:0000124	Renal tubular dysfunction	HP:0040283	ORPHA:99885
2645	GCK	HP:0000112	Nephropathy	HP:0040283	ORPHA:552
2645	GCK	HP:0000107	Renal cyst	HP:0040284	ORPHA:552
2645	GCK	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:99885
2645	GCK	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
2645	GCK	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:79299
2645	GCK	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:99885
2645	GCK	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:99885
2645	GCK	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:99885
2645	GCK	HP:0002186	Apraxia	HP:0040283	ORPHA:99885
2645	GCK	HP:0002173	Hypoglycemic seizures	2/5	OMIM:602485
2645	GCK	HP:0008255	Transient neonatal diabetes mellitus	HP:0040283	ORPHA:552
2645	GCK	HP:0008283	Fasting hyperinsulinemia	HP:0040281	ORPHA:79299
2645	GCK	HP:0002270	Abnormality of the autonomic nervous system	HP:0040284	ORPHA:79299
2645	GCK	HP:0003584	Late onset	-	OMIM:125853
2645	GCK	HP:0002378	Hand tremor	HP:0040282	ORPHA:79299
2645	GCK	HP:0100651	Type I diabetes mellitus	3/3	OMIM:606176
2645	GCK	HP:0003621	Juvenile onset	4/5	OMIM:602485
2645	GCK	HP:0003621	Juvenile onset	7/7	OMIM:125851
2645	GCK	HP:0004924	Abnormal oral glucose tolerance	HP:0040282	ORPHA:552
2645	GCK	HP:0004904	Maturity-onset diabetes of the young	16/16	OMIM:125851
2645	GCK	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
2645	GCK	HP:0001944	Dehydration	HP:0040281	ORPHA:99885
2645	GCK	HP:0001953	Diabetic ketoacidosis	-	ORPHA:552
2645	GCK	HP:0001952	Glucose intolerance	HP:0040282	ORPHA:552
2645	GCK	HP:0001988	Recurrent hypoglycemia	HP:0040281	ORPHA:79299
2645	GCK	HP:0001985	Hypoketotic hypoglycemia	HP:0040281	ORPHA:79299
2645	GCK	HP:0012638	Abnormal nervous system physiology	HP:0040284	ORPHA:79299
2645	GCK	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:552
2645	GCK	HP:0003076	Glycosuria	HP:0040282	ORPHA:552
2645	GCK	HP:0003076	Glycosuria	HP:0040281	ORPHA:99885
2645	GCK	HP:0003074	Hyperglycemia	HP:0040282	ORPHA:552
2645	GCK	HP:0003074	Hyperglycemia	HP:0040281	ORPHA:99885
2645	GCK	HP:0003074	Hyperglycemia	-	OMIM:606176
2645	GCK	HP:0011462	Young adult onset	1/5	OMIM:602485
2645	GCK	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:99885
2645	GCK	HP:0005750	Lower-limb joint contracture	HP:0040282	ORPHA:99885
2645	GCK	HP:0030795	Reduced C-peptide level	-	OMIM:606176
2645	GCK	HP:0030794	Abnormal circulating C-peptide concentration	HP:0040282	ORPHA:552
2645	GCK	HP:0030794	Abnormal circulating C-peptide concentration	HP:0040281	ORPHA:79299
2645	GCK	HP:0000855	Insulin resistance	-	OMIM:125853
2645	GCK	HP:0000857	Neonatal insulin-dependent diabetes mellitus	HP:0040281	ORPHA:99885
2645	GCK	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040283	ORPHA:552
2645	GCK	HP:0000819	Diabetes mellitus	-	OMIM:606176
2645	GCK	HP:0000819	Diabetes mellitus	1/5	OMIM:602485
2645	GCK	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040283	ORPHA:552
2645	GCK	HP:0000825	Hyperinsulinemic hypoglycemia	5/5	OMIM:602485
2645	GCK	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040281	ORPHA:79299
2645	GCK	HP:0040214	Abnormal circulating insulin concentration	HP:0040282	ORPHA:552
2645	GCK	HP:0040217	Elevated hemoglobin A1c	HP:0040282	ORPHA:552
2645	GCK	HP:0040217	Elevated hemoglobin A1c	-	OMIM:606176
2645	GCK	HP:0040216	Hypoinsulinemia	HP:0040282	ORPHA:552
2645	GCK	HP:0000956	Acanthosis nigricans	-	ORPHA:552
2645	GCK	HP:0030057	Autoimmune antibody positivity	-	ORPHA:552
2645	GCK	HP:0030057	Autoimmune antibody positivity	-	ORPHA:99885
2645	GCK	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:99885
2645	GCK	HP:0025502	Overweight	HP:0040283	ORPHA:552
2645	GCK	HP:0001508	Failure to thrive	HP:0040281	ORPHA:99885
2645	GCK	HP:0001520	Large for gestational age	HP:0040283	ORPHA:552
2645	GCK	HP:0001518	Small for gestational age	3/3	OMIM:606176
2645	GCK	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:552
2645	GCK	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:99885
2645	GCK	HP:0001511	Intrauterine growth retardation	3/3	OMIM:606176
2645	GCK	HP:0001513	Obesity	HP:0040284	ORPHA:552
2645	GCK	HP:0012378	Fatigue	HP:0040282	ORPHA:79299
2645	GCK	HP:0002919	Ketonuria	HP:0040282	ORPHA:99885
2645	GCK	HP:0000365	Hearing impairment	HP:0040283	ORPHA:99885
2645	GCK	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:99885
2645	GCK	HP:0001738	Exocrine pancreatic insufficiency	HP:0040284	ORPHA:552
2645	GCK	HP:0000488	Retinopathy	HP:0040283	ORPHA:552
2645	GCK	HP:0000488	Retinopathy	HP:0040282	ORPHA:99885
2645	GCK	HP:0011106	Hypovolemia	HP:0040281	ORPHA:99885
2645	GCK	HP:0005487	Prominent metopic ridge	HP:0040282	ORPHA:99885
2645	GCK	HP:0001824	Weight loss	HP:0040281	ORPHA:99885
2645	GCK	HP:0012594	Moderate albuminuria	HP:0040282	ORPHA:99885
2651	GCNT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:116700
2651	GCNT2	HP:0000519	Developmental cataract	-	OMIM:116700
2652	OPN1MW	HP:0001131	Corneal dystrophy	HP:0040283	ORPHA:16
2652	OPN1MW	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
2652	OPN1MW	HP:0012043	Pendular nystagmus	-	OMIM:303700
2652	OPN1MW	HP:0007663	Reduced visual acuity	-	OMIM:303700
2652	OPN1MW	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
2652	OPN1MW	HP:0001419	X-linked recessive inheritance	-	OMIM:303700
2652	OPN1MW	HP:0001419	X-linked recessive inheritance	-	OMIM:303800
2652	OPN1MW	HP:0003577	Congenital onset	-	OMIM:303800
2652	OPN1MW	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
2652	OPN1MW	HP:0000639	Nystagmus	HP:0040282	ORPHA:16
2652	OPN1MW	HP:0000639	Nystagmus	HP:0040282	OMIM:303700
2652	OPN1MW	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
2652	OPN1MW	HP:0000613	Photophobia	-	OMIM:303700
2652	OPN1MW	HP:0000613	Photophobia	HP:0040283	ORPHA:16
2652	OPN1MW	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
2652	OPN1MW	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
2652	OPN1MW	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
2652	OPN1MW	HP:0030619	Reduced OCT-measured foveal thickness	HP:0040282	ORPHA:16
2652	OPN1MW	HP:0011520	Deuteranomaly	-	OMIM:303800
2652	OPN1MW	HP:0008002	Abnormality of macular pigmentation	HP:0040283	OMIM:303700
2652	OPN1MW	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
2652	OPN1MW	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:16
2652	OPN1MW	HP:0025549	Eccentric visual fixation	HP:0040282	ORPHA:16
2652	OPN1MW	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
2652	OPN1MW	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
2652	OPN1MW	HP:0007939	Blue cone monochromacy	HP:0040281	ORPHA:16
2652	OPN1MW	HP:0007939	Blue cone monochromacy	-	OMIM:303700
2652	OPN1MW	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
2652	OPN1MW	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:16
2652	OPN1MW	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
2652	OPN1MW	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
2652	OPN1MW	HP:0000505	Visual impairment	HP:0040283	ORPHA:16
2652	OPN1MW	HP:0000505	Visual impairment	-	OMIM:303700
2652	OPN1MW	HP:0000540	Hypermetropia	HP:0040283	ORPHA:16
2652	OPN1MW	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
2652	OPN1MW	HP:0000551	Color vision defect	HP:0040282	ORPHA:16
2652	OPN1MW	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
2652	OPN1MW	HP:0000545	Myopia	HP:0040282	ORPHA:16
2652	OPN1MW	HP:0000545	Myopia	-	OMIM:303700
2653	GCSH	HP:0010851	EEG with burst suppression	2/2	OMIM:620423
2653	GCSH	HP:0034893	Elevated brain glycine level by MRS	2/2	OMIM:620423
2653	GCSH	HP:0001276	Hypertonia	1/1	OMIM:620423
2653	GCSH	HP:0001284	Areflexia	1/1	OMIM:620423
2653	GCSH	HP:0001254	Lethargy	5/5	OMIM:620423
2653	GCSH	HP:0001250	Seizure	4/4	OMIM:620423
2653	GCSH	HP:0001252	Hypotonia	4/5	OMIM:620423
2653	GCSH	HP:0001263	Global developmental delay	6/6	OMIM:620423
2653	GCSH	HP:0001259	Coma	2/2	OMIM:620423
2653	GCSH	HP:0007359	Focal-onset seizure	1/1	OMIM:620423
2653	GCSH	HP:0002521	Hypsarrhythmia	1/1	OMIM:620423
2653	GCSH	HP:0500230	Increased CSF glycine concentration	6/6	OMIM:620423
2653	GCSH	HP:0001347	Hyperreflexia	1/1	OMIM:620423
2653	GCSH	HP:0031165	Multifocal seizures	1/1	OMIM:620423
2653	GCSH	HP:0001332	Dystonia	1/1	OMIM:620423
2653	GCSH	HP:0033725	Thin corpus callosum	1/1	OMIM:620423
2653	GCSH	HP:0000007	Autosomal recessive inheritance	-	OMIM:620423
2653	GCSH	HP:0001336	Myoclonus	1/1	OMIM:620423
2653	GCSH	HP:0000194	Open mouth	1/1	OMIM:620423
2653	GCSH	HP:0032615	Abnormal diffusion weighted cerebral MRI morphology	3/3	OMIM:620423
2653	GCSH	HP:0008936	Axial hypotonia	1/1	OMIM:620423
2653	GCSH	HP:0001410	Decreased liver function	1/1	OMIM:620423
2653	GCSH	HP:0002033	Poor suck	1/1	OMIM:620423
2653	GCSH	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:620423
2653	GCSH	HP:0002154	Hyperglycinemia	1/1	OMIM:620423
2653	GCSH	HP:0002104	Apnea	2/2	OMIM:620423
2653	GCSH	HP:0002267	Exaggerated startle response	1/1	OMIM:620423
2653	GCSH	HP:0003593	Infantile onset	4/9	OMIM:620423
2653	GCSH	HP:0003577	Congenital onset	2/6	OMIM:620423
2653	GCSH	HP:0100710	Impulsivity	1/1	OMIM:620423
2653	GCSH	HP:0004887	Respiratory failure requiring assisted ventilation	2/2	OMIM:620423
2653	GCSH	HP:0011968	Feeding difficulties	3/3	OMIM:620423
2653	GCSH	HP:0003623	Neonatal onset	3/9	OMIM:620423
2653	GCSH	HP:0001943	Hypoglycemia	1/1	OMIM:620423
2653	GCSH	HP:0001942	Metabolic acidosis	1/2	OMIM:620423
2653	GCSH	HP:0003074	Hyperglycemia	5/5	OMIM:620423
2653	GCSH	HP:0000752	Hyperactivity	3/3	OMIM:620423
2653	GCSH	HP:0000738	Hallucinations	1/1	OMIM:620423
2653	GCSH	HP:0000737	Irritability	1/1	OMIM:620423
2653	GCSH	HP:0012707	Elevated brain lactate level by MRS	2/2	OMIM:620423
2653	GCSH	HP:0012708	Reduced brain N-acetyl aspartate level by MRS	1/1	OMIM:620423
2653	GCSH	HP:0000713	Agitation	1/1	OMIM:620423
2653	GCSH	HP:0000729	Autistic behavior	1/1	OMIM:620423
2653	GCSH	HP:0011448	Ankle clonus	1/1	OMIM:620423
2653	GCSH	HP:0011577	Partial atrioventricular canal defect	1/1	OMIM:620423
2653	GCSH	HP:0003228	Hypernatremia	1/2	OMIM:620423
2653	GCSH	HP:0100247	Recurrent singultus	1/1	OMIM:620423
2653	GCSH	HP:0000961	Cyanosis	1/1	OMIM:620423
2653	GCSH	HP:0000268	Dolichocephaly	1/1	OMIM:620423
2653	GCSH	HP:0000212	Gingival overgrowth	1/1	OMIM:620423
2653	GCSH	HP:0032794	Myoclonic seizure	1/1	OMIM:620423
2653	GCSH	HP:0012469	Infantile spasms	2/2	OMIM:620423
2653	GCSH	HP:0000463	Anteverted nares	1/1	OMIM:620423
2653	GCSH	HP:0005484	Secondary microcephaly	1/1	OMIM:620423
2653	GCSH	HP:0001873	Thrombocytopenia	1/1	OMIM:620423
2657	GDF1	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3303
2657	GDF1	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:3303
2657	GDF1	HP:0001274	Agenesis of corpus callosum	-	OMIM:208530
2657	GDF1	HP:0012020	Right aortic arch	-	OMIM:613854
2657	GDF1	HP:0000023	Inguinal hernia	2/10	OMIM:208530
2657	GDF1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3303
2657	GDF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:208530
2657	GDF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
2657	GDF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613854
2657	GDF1	HP:0002101	Abnormal lung lobation	-	OMIM:208530
2657	GDF1	HP:0032092	Left ventricular outflow tract obstruction	-	OMIM:613854
2657	GDF1	HP:0004935	Pulmonary artery atresia	-	OMIM:208530
2657	GDF1	HP:0004935	Pulmonary artery atresia	-	OMIM:613854
2657	GDF1	HP:0031834	Aortopulmonary collateral arteries	1/5	OMIM:208530
2657	GDF1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
2657	GDF1	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:3303
2657	GDF1	HP:0004467	Preauricular pit	HP:0040282	ORPHA:3303
2657	GDF1	HP:0004467	Preauricular pit	-	OMIM:187500
2657	GDF1	HP:0011536	Right atrial isomerism	-	OMIM:208530
2657	GDF1	HP:0011565	Common atrium	5/5	OMIM:208530
2657	GDF1	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:3303
2657	GDF1	HP:0005105	Abnormal nasal morphology	HP:0040281	ORPHA:3303
2657	GDF1	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:3303
2657	GDF1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3303
2657	GDF1	HP:0005160	Total anomalous pulmonary venous return	5/5	OMIM:208530
2657	GDF1	HP:0005160	Total anomalous pulmonary venous return	-	OMIM:613854
2657	GDF1	HP:0001696	Situs inversus totalis	2/5	OMIM:208530
2657	GDF1	HP:0001674	Complete atrioventricular canal defect	-	OMIM:208530
2657	GDF1	HP:0001674	Complete atrioventricular canal defect	-	OMIM:613854
2657	GDF1	HP:0001669	Transposition of the great arteries	7/10	OMIM:208530
2657	GDF1	HP:0001669	Transposition of the great arteries	-	OMIM:613854
2657	GDF1	HP:0000337	Broad forehead	-	OMIM:187500
2657	GDF1	HP:0000337	Broad forehead	HP:0040281	ORPHA:3303
2657	GDF1	HP:0001684	Secundum atrial septal defect	-	OMIM:613854
2657	GDF1	HP:0001680	Coarctation of aorta	-	OMIM:613854
2657	GDF1	HP:0001651	Dextrocardia	2/5	OMIM:208530
2657	GDF1	HP:0001642	Pulmonic stenosis	-	OMIM:613854
2657	GDF1	HP:0001642	Pulmonic stenosis	-	OMIM:208530
2657	GDF1	HP:0001629	Ventricular septal defect	-	OMIM:613854
2657	GDF1	HP:0001629	Ventricular septal defect	-	OMIM:208530
2657	GDF1	HP:0001636	Tetralogy of Fallot	-	OMIM:613854
2657	GDF1	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:3303
2657	GDF1	HP:0001636	Tetralogy of Fallot	2/10	OMIM:208530
2657	GDF1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
2657	GDF1	HP:0001631	Atrial septal defect	-	OMIM:208530
2657	GDF1	HP:0005304	Hypoplastic pulmonary veins	-	OMIM:613854
2657	GDF1	HP:0001719	Double outlet right ventricle	-	OMIM:613854
2657	GDF1	HP:0031565	Abdominal situs ambiguus	-	OMIM:208530
2657	GDF1	HP:0001750	Single ventricle	-	OMIM:208530
2657	GDF1	HP:0001750	Single ventricle	-	OMIM:613854
2657	GDF1	HP:0001746	Asplenia	5/5	OMIM:208530
2657	GDF1	HP:0001748	Polysplenia	-	OMIM:208530
2657	GDF1	HP:0000520	Proptosis	-	OMIM:187500
2657	GDF1	HP:0000520	Proptosis	HP:0040282	ORPHA:3303
2658	GDF2	HP:0002408	Cerebral arteriovenous malformation	HP:0040283	ORPHA:774
2658	GDF2	HP:0001250	Seizure	HP:0040283	ORPHA:774
2658	GDF2	HP:0001399	Hepatic failure	HP:0040283	ORPHA:774
2658	GDF2	HP:0001394	Cirrhosis	HP:0040283	ORPHA:774
2658	GDF2	HP:0001342	Cerebral hemorrhage	HP:0040283	ORPHA:774
2658	GDF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:615506
2658	GDF2	HP:0002629	Gastrointestinal arteriovenous malformation	HP:0040283	ORPHA:774
2658	GDF2	HP:0001409	Portal hypertension	HP:0040282	ORPHA:774
2658	GDF2	HP:0001409	Portal hypertension	1/3	OMIM:615506
2658	GDF2	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:774
2658	GDF2	HP:0002076	Migraine	HP:0040282	ORPHA:774
2658	GDF2	HP:0002040	Esophageal varix	HP:0040283	ORPHA:774
2658	GDF2	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:774
2658	GDF2	HP:0100579	Mucosal telangiectasiae	HP:0040281	ORPHA:774
2658	GDF2	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:774
2658	GDF2	HP:0002105	Hemoptysis	HP:0040283	ORPHA:774
2658	GDF2	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:774
2658	GDF2	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:774
2658	GDF2	HP:0100784	Peripheral arteriovenous fistula	HP:0040283	ORPHA:774
2658	GDF2	HP:0100761	Visceral angiomatosis	HP:0040282	ORPHA:774
2658	GDF2	HP:0001009	Telangiectasia	HP:0040281	ORPHA:774
2658	GDF2	HP:0001009	Telangiectasia	3/3	OMIM:615506
2658	GDF2	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:774
2658	GDF2	HP:0100659	Abnormal cerebral vascular morphology	HP:0040283	ORPHA:774
2658	GDF2	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:774
2658	GDF2	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:774
2658	GDF2	HP:0001903	Anemia	HP:0040282	ORPHA:774
2658	GDF2	HP:0100026	Arteriovenous malformation	HP:0040282	ORPHA:774
2658	GDF2	HP:0004406	Spontaneous, recurrent epistaxis	HP:0040281	ORPHA:774
2658	GDF2	HP:0004406	Spontaneous, recurrent epistaxis	3/3	OMIM:615506
2658	GDF2	HP:0007763	Retinal telangiectasia	HP:0040283	ORPHA:774
2658	GDF2	HP:0000214	Lip telangiectasia	HP:0040281	ORPHA:774
2658	GDF2	HP:0000227	Tongue telangiectasia	HP:0040281	ORPHA:774
2658	GDF2	HP:0011025	Abnormal cardiovascular system physiology	HP:0040282	ORPHA:774
2658	GDF2	HP:0006574	Hepatic arteriovenous malformation	HP:0040282	ORPHA:774
2658	GDF2	HP:0006548	Pulmonary arteriovenous malformation	HP:0040282	ORPHA:774
2658	GDF2	HP:0002910	Elevated circulating hepatic transaminase concentration	1/3	OMIM:615506
2658	GDF2	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:774
2658	GDF2	HP:0000434	Nasal mucosa telangiectasia	HP:0040281	ORPHA:774
2658	GDF2	HP:0000421	Epistaxis	HP:0040281	ORPHA:774
2658	GDF2	HP:0000524	Conjunctival telangiectasia	HP:0040283	ORPHA:774
2660	MSTN	HP:0003712	Skeletal muscle hypertrophy	1/1	OMIM:614160
2660	MSTN	HP:0001348	Brisk reflexes	1/1	OMIM:614160
2660	MSTN	HP:0000007	Autosomal recessive inheritance	-	OMIM:614160
2661	GDF9	HP:0000007	Autosomal recessive inheritance	-	OMIM:618014
2661	GDF9	HP:0008232	Elevated circulating follicle stimulating hormone level	1/1	OMIM:618014
2661	GDF9	HP:0008214	Decreased serum estradiol	1/1	OMIM:618014
2661	GDF9	HP:0011969	Elevated circulating luteinizing hormone level	1/1	OMIM:618014
2661	GDF9	HP:0011462	Young adult onset	1/1	OMIM:618014
2661	GDF9	HP:0000786	Primary amenorrhea	1/1	OMIM:618014
2664	GDI1	HP:0010864	Intellectual disability, severe	7/7	OMIM:300849
2664	GDI1	HP:0001256	Intellectual disability, mild	2/5	OMIM:300849
2664	GDI1	HP:0001249	Intellectual disability	9/9	OMIM:300849
2664	GDI1	HP:0001263	Global developmental delay	-	OMIM:300849
2664	GDI1	HP:0001328	Specific learning disability	2/4	OMIM:300849
2664	GDI1	HP:0008936	Axial hypotonia	1/9	OMIM:300849
2664	GDI1	HP:0001423	X-linked dominant inheritance	-	OMIM:300849
2664	GDI1	HP:0001417	X-linked inheritance	-	OMIM:300849
2664	GDI1	HP:0002121	Generalized non-motor (absence) seizure	1/9	OMIM:300849
2668	GDNF	HP:0100806	Sepsis	HP:0040283	ORPHA:388
2668	GDNF	HP:0001250	Seizure	HP:0040283	ORPHA:661
2668	GDNF	HP:0001252	Hypotonia	HP:0040283	ORPHA:661
2668	GDNF	HP:0000006	Autosomal dominant inheritance	-	OMIM:613711
2668	GDNF	HP:0002019	Constipation	HP:0040281	ORPHA:388
2668	GDNF	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:388
2668	GDNF	HP:0002027	Abdominal pain	HP:0040281	ORPHA:388
2668	GDNF	HP:0002014	Diarrhea	HP:0040283	ORPHA:388
2668	GDNF	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:661
2668	GDNF	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:661
2668	GDNF	HP:6000224	Delayed passage of meconium	HP:0040282	ORPHA:388
2668	GDNF	HP:0002270	Abnormality of the autonomic nervous system	HP:0040281	ORPHA:661
2668	GDNF	HP:0003577	Congenital onset	2/2	OMIM:613711
2668	GDNF	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:661
2668	GDNF	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:388
2668	GDNF	HP:0002251	Aganglionic megacolon	1/1	OMIM:613711
2668	GDNF	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:388
2668	GDNF	HP:0034754	Bilious emesis	HP:0040282	ORPHA:388
2668	GDNF	HP:0004322	Short stature	HP:0040283	ORPHA:388
2668	GDNF	HP:0003005	Ganglioneuroma	HP:0040283	ORPHA:661
2668	GDNF	HP:0004387	Enterocolitis	HP:0040283	ORPHA:388
2668	GDNF	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:661
2668	GDNF	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:661
2668	GDNF	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040281	ORPHA:388
2668	GDNF	HP:0003270	Abdominal distention	HP:0040282	ORPHA:388
2668	GDNF	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:388
2668	GDNF	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:388
2668	GDNF	HP:0031369	Colon perforation	HP:0040283	ORPHA:388
2668	GDNF	HP:0001510	Growth delay	HP:0040283	ORPHA:388
2668	GDNF	HP:0005214	Intestinal obstruction	HP:0040281	ORPHA:388
2668	GDNF	HP:0006747	Ganglioneuroblastoma	HP:0040283	ORPHA:661
2668	GDNF	HP:0011286	Total colonic aganglionosis	1/2	OMIM:613711
2668	GDNF	HP:0011285	Long-segment aganglionic megacolon	1/2	OMIM:613711
2668	GDNF	HP:0001824	Weight loss	HP:0040282	ORPHA:388
2670	GFAP	HP:0002483	Bulbar signs	-	OMIM:203450
2670	GFAP	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:363717
2670	GFAP	HP:0010873	Cervical spinal cord atrophy	HP:0040281	ORPHA:363722
2670	GFAP	HP:0001290	Generalized hypotonia	HP:0040284	ORPHA:363717
2670	GFAP	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:363717
2670	GFAP	HP:0001250	Seizure	-	OMIM:203450
2670	GFAP	HP:0001250	Seizure	HP:0040282	ORPHA:363717
2670	GFAP	HP:0001252	Hypotonia	HP:0040284	ORPHA:363717
2670	GFAP	HP:0001251	Ataxia	1/1	OMIM:203450
2670	GFAP	HP:0001251	Ataxia	HP:0040282	ORPHA:363722
2670	GFAP	HP:0001251	Ataxia	HP:0040283	ORPHA:363717
2670	GFAP	HP:0001260	Dysarthria	1/1	OMIM:203450
2670	GFAP	HP:0001260	Dysarthria	HP:0040282	ORPHA:363722
2670	GFAP	HP:0001260	Dysarthria	HP:0040283	ORPHA:363717
2670	GFAP	HP:0001263	Global developmental delay	HP:0040283	ORPHA:363717
2670	GFAP	HP:0001257	Spasticity	-	OMIM:203450
2670	GFAP	HP:0001257	Spasticity	HP:0040282	ORPHA:363722
2670	GFAP	HP:0001257	Spasticity	HP:0040283	ORPHA:363717
2670	GFAP	HP:0002518	Abnormal periventricular white matter morphology	HP:0040282	ORPHA:363722
2670	GFAP	HP:0002500	Abnormal cerebral white matter morphology	HP:0040281	ORPHA:363717
2670	GFAP	HP:0003819	Death in childhood	1/11	OMIM:203450
2670	GFAP	HP:0012043	Pendular nystagmus	1/1	OMIM:203450
2670	GFAP	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:363722
2670	GFAP	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:363717
2670	GFAP	HP:0000006	Autosomal dominant inheritance	-	OMIM:203450
2670	GFAP	HP:0001310	Dysmetria	1/1	OMIM:203450
2670	GFAP	HP:0002650	Scoliosis	HP:0040283	ORPHA:363722
2670	GFAP	HP:0002650	Scoliosis	HP:0040282	ORPHA:363717
2670	GFAP	HP:0025492	Microcoria	1/1	OMIM:203450
2670	GFAP	HP:0002015	Dysphagia	HP:0040282	ORPHA:363722
2670	GFAP	HP:0002015	Dysphagia	HP:0040283	ORPHA:363717
2670	GFAP	HP:0002013	Vomiting	HP:0040284	ORPHA:363717
2670	GFAP	HP:0002063	Rigidity	HP:0040283	ORPHA:363722
2670	GFAP	HP:0003487	Babinski sign	1/1	OMIM:203450
2670	GFAP	HP:0003487	Babinski sign	HP:0040282	ORPHA:363722
2670	GFAP	HP:0010530	Palatal tremor	1/1	OMIM:203450
2670	GFAP	HP:0010530	Palatal tremor	HP:0040284	ORPHA:363717
2670	GFAP	HP:0010530	Palatal tremor	HP:0040282	ORPHA:363722
2670	GFAP	HP:0003593	Infantile onset	19/21	OMIM:203450
2670	GFAP	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:363722
2670	GFAP	HP:0003690	Limb muscle weakness	HP:0040282	ORPHA:363722
2670	GFAP	HP:0002376	Developmental regression	-	OMIM:203450
2670	GFAP	HP:0002313	Spastic paraparesis	HP:0040282	ORPHA:363722
2670	GFAP	HP:0002329	Drowsiness	1/1	OMIM:203450
2670	GFAP	HP:0007162	Diffuse demyelination of the cerebral white matter	-	OMIM:203450
2670	GFAP	HP:0007109	Periventricular cysts	HP:0040282	ORPHA:363722
2670	GFAP	HP:0003621	Juvenile onset	1/11	OMIM:203450
2670	GFAP	HP:0007183	Focal T2 hyperintense basal ganglia lesion	HP:0040281	ORPHA:363717
2670	GFAP	HP:0000639	Nystagmus	HP:0040282	ORPHA:363722
2670	GFAP	HP:0012696	Abnormal thalamic MRI signal intensity	HP:0040282	ORPHA:363717
2670	GFAP	HP:0004326	Cachexia	HP:0040283	ORPHA:363717
2670	GFAP	HP:0000741	Apathy	1/1	OMIM:203450
2670	GFAP	HP:0011463	Childhood onset	1/11	OMIM:203450
2670	GFAP	HP:0011441	Abnormal medulla oblongata morphology	HP:0040281	ORPHA:363722
2670	GFAP	HP:0011421	Death in adolescence	5/11	OMIM:203450
2670	GFAP	HP:0100321	Abnormal dentate nucleus morphology	1/1	OMIM:203450
2670	GFAP	HP:0100320	Rosenthal fibers	HP:0040282	ORPHA:363717
2670	GFAP	HP:0004481	Progressive macrocephaly	-	OMIM:203450
2670	GFAP	HP:0004481	Progressive macrocephaly	HP:0040282	ORPHA:363717
2670	GFAP	HP:0000238	Hydrocephalus	-	OMIM:203450
2670	GFAP	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:363717
2670	GFAP	HP:0001522	Death in infancy	2/11	OMIM:203450
2670	GFAP	HP:0001508	Failure to thrive	HP:0040282	ORPHA:363717
2670	GFAP	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040282	ORPHA:363722
2670	GFAP	HP:0012378	Fatigue	1/1	OMIM:203450
2670	GFAP	HP:0001618	Dysphonia	HP:0040282	ORPHA:363722
2670	GFAP	HP:0002922	Increased CSF protein concentration	-	OMIM:203450
2670	GFAP	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	ORPHA:363722
2670	GFAP	HP:0025710	Late young adult onset	1/1	OMIM:203450
2671	GFER	HP:0001252	Hypotonia	HP:0040282	ORPHA:330054
2671	GFER	HP:0001263	Global developmental delay	-	OMIM:613076
2671	GFER	HP:0001263	Global developmental delay	HP:0040282	ORPHA:330054
2671	GFER	HP:0001324	Muscle weakness	-	ORPHA:330054
2671	GFER	HP:0000007	Autosomal recessive inheritance	-	OMIM:613076
2671	GFER	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:330054
2671	GFER	HP:0008972	Decreased activity of mitochondrial respiratory chain	-	OMIM:613076
2671	GFER	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:330054
2671	GFER	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:330054
2671	GFER	HP:0003198	Myopathy	-	OMIM:613076
2671	GFER	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:330054
2671	GFER	HP:0030089	Abnormal muscle fiber protein expression	HP:0040282	ORPHA:330054
2671	GFER	HP:0001583	Rotary nystagmus	HP:0040282	ORPHA:330054
2671	GFER	HP:0012343	Decreased circulating ferritin concentration	HP:0040282	ORPHA:330054
2671	GFER	HP:0000408	Progressive sensorineural hearing impairment	HP:0040282	ORPHA:330054
2671	GFER	HP:0000407	Sensorineural hearing impairment	-	OMIM:613076
2671	GFER	HP:0000518	Cataract	-	OMIM:613076
2671	GFER	HP:0000519	Developmental cataract	HP:0040282	ORPHA:330054
2671	GFER	HP:0000519	Developmental cataract	-	OMIM:613076
2671	GFER	HP:0000508	Ptosis	HP:0040282	ORPHA:330054
2672	GFI1	HP:0010976	Decreased total B cell count	-	OMIM:613107
2672	GFI1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613107
2672	GFI1	HP:0000006	Autosomal dominant inheritance	-	OMIM:607847
2672	GFI1	HP:0025452	Pyoderma gangrenosum	HP:0040283	ORPHA:486
2672	GFI1	HP:0025439	Pharyngitis	HP:0040282	ORPHA:486
2672	GFI1	HP:0000155	Oral ulcer	HP:0040282	ORPHA:486
2672	GFI1	HP:0410018	Recurrent ear infections	HP:0040282	ORPHA:486
2672	GFI1	HP:0002718	Recurrent bacterial infections	HP:0040281	ORPHA:486
2672	GFI1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:486
2672	GFI1	HP:0002014	Diarrhea	HP:0040282	ORPHA:486
2672	GFI1	HP:0002090	Pneumonia	HP:0040282	ORPHA:486
2672	GFI1	HP:0003453	Antineutrophil antibody positivity	HP:0040283	ORPHA:486
2672	GFI1	HP:0004798	Recurrent infection of the gastrointestinal tract	HP:0040282	ORPHA:486
2672	GFI1	HP:0004808	Acute myeloid leukemia	HP:0040283	OMIM:607847
2672	GFI1	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:486
2672	GFI1	HP:0001028	Hemangioma	HP:0040283	ORPHA:486
2672	GFI1	HP:0100658	Cellulitis	HP:0040283	ORPHA:486
2672	GFI1	HP:0001945	Fever	HP:0040282	ORPHA:486
2672	GFI1	HP:0001909	Leukemia	HP:0040283	ORPHA:486
2672	GFI1	HP:0001915	Aplastic anemia	HP:0040283	ORPHA:486
2672	GFI1	HP:0000704	Periodontitis	HP:0040282	ORPHA:486
2672	GFI1	HP:0004429	Recurrent viral infections	HP:0040281	ORPHA:486
2672	GFI1	HP:0000938	Osteopenia	HP:0040283	ORPHA:486
2672	GFI1	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:486
2672	GFI1	HP:0000230	Gingivitis	HP:0040282	ORPHA:486
2672	GFI1	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:486
2672	GFI1	HP:0012384	Rhinitis	HP:0040282	ORPHA:486
2672	GFI1	HP:0006480	Premature loss of teeth	HP:0040283	ORPHA:486
2672	GFI1	HP:0012311	Increased total monocyte count	HP:0040282	ORPHA:486
2672	GFI1	HP:0012311	Increased total monocyte count	-	OMIM:613107
2672	GFI1	HP:0011107	Recurrent aphthous stomatitis	HP:0040282	ORPHA:486
2672	GFI1	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:486
2672	GFI1	HP:0006721	Acute lymphoblastic leukemia	HP:0040283	ORPHA:486
2672	GFI1	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:486
2672	GFI1	HP:0001880	Increased total eosinophil count	HP:0040283	ORPHA:486
2672	GFI1	HP:0001875	Decreased total neutrophil count	-	OMIM:607847
2672	GFI1	HP:0001875	Decreased total neutrophil count	HP:0040280	ORPHA:486
2672	GFI1	HP:0001875	Decreased total neutrophil count	-	OMIM:613107
2673	GFPT1	HP:0002460	Distal muscle weakness	HP:0040284	ORPHA:353327
2673	GFPT1	HP:0002421	Poor head control	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:353327
2673	GFPT1	HP:0003701	Proximal muscle weakness	4/4	OMIM:610542
2673	GFPT1	HP:0001290	Generalized hypotonia	-	OMIM:608931
2673	GFPT1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:353327
2673	GFPT1	HP:0001270	Motor delay	-	OMIM:608931
2673	GFPT1	HP:0001270	Motor delay	4/4	OMIM:610542
2673	GFPT1	HP:0001270	Motor delay	HP:0040282	ORPHA:353327
2673	GFPT1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0001284	Areflexia	HP:0040282	ORPHA:353327
2673	GFPT1	HP:0001252	Hypotonia	-	OMIM:608931
2673	GFPT1	HP:0001260	Dysarthria	-	OMIM:608931
2673	GFPT1	HP:0002515	Waddling gait	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0002515	Waddling gait	2/4	OMIM:610542
2673	GFPT1	HP:0003828	Variable expressivity	-	OMIM:608931
2673	GFPT1	HP:0003803	Type 1 muscle fiber predominance	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608931
2673	GFPT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:610542
2673	GFPT1	HP:0002650	Scoliosis	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:608931
2673	GFPT1	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:353327
2673	GFPT1	HP:0002015	Dysphagia	-	OMIM:608931
2673	GFPT1	HP:0003394	Muscle spasm	-	OMIM:608931
2673	GFPT1	HP:0003394	Muscle spasm	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0003394	Muscle spasm	-	OMIM:610542
2673	GFPT1	HP:0003391	Gowers sign	-	OMIM:608931
2673	GFPT1	HP:0003391	Gowers sign	-	OMIM:610542
2673	GFPT1	HP:0003391	Gowers sign	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0003388	Easy fatigability	-	OMIM:608931
2673	GFPT1	HP:0003388	Easy fatigability	-	OMIM:610542
2673	GFPT1	HP:0003388	Easy fatigability	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0008180	Mildly elevated creatine kinase	-	OMIM:610542
2673	GFPT1	HP:0003473	Fatigable weakness	20/20	OMIM:608931
2673	GFPT1	HP:0003473	Fatigable weakness	-	OMIM:610542
2673	GFPT1	HP:0003473	Fatigable weakness	HP:0040282	ORPHA:353327
2673	GFPT1	HP:0003443	Decreased size of nerve terminals	-	OMIM:608931
2673	GFPT1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1/1	OMIM:608931
2673	GFPT1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2/2	OMIM:610542
2673	GFPT1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040282	ORPHA:353327
2673	GFPT1	HP:0003593	Infantile onset	-	OMIM:608931
2673	GFPT1	HP:0003554	Type 2 muscle fiber atrophy	-	OMIM:608931
2673	GFPT1	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0011968	Feeding difficulties	-	OMIM:608931
2673	GFPT1	HP:0010628	Facial palsy	-	OMIM:608931
2673	GFPT1	HP:0010628	Facial palsy	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0010628	Facial palsy	-	OMIM:610542
2673	GFPT1	HP:0003691	Scapular winging	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0002359	Frequent falls	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0003680	Nonprogressive	-	OMIM:608931
2673	GFPT1	HP:0007126	Proximal amyotrophy	-	OMIM:610542
2673	GFPT1	HP:0003623	Neonatal onset	2/4	OMIM:610542
2673	GFPT1	HP:0003621	Juvenile onset	1/4	OMIM:610542
2673	GFPT1	HP:0030502	Retinoschisis	2/4	OMIM:610542
2673	GFPT1	HP:0009046	Difficulty running	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0009028	Generalized weakness of limb muscles	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0000689	Dental malocclusion	-	OMIM:608931
2673	GFPT1	HP:0011463	Childhood onset	1/1	OMIM:608931
2673	GFPT1	HP:0011463	Childhood onset	1/4	OMIM:610542
2673	GFPT1	HP:0003198	Myopathy	HP:0040282	ORPHA:353327
2673	GFPT1	HP:0003199	Decreased muscle mass	-	OMIM:608931
2673	GFPT1	HP:0100301	Muscle fiber tubular inclusions	HP:0040282	ORPHA:353327
2673	GFPT1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0003202	Skeletal muscle atrophy	-	OMIM:608931
2673	GFPT1	HP:0003200	Ragged-red muscle fibers	2/2	OMIM:610542
2673	GFPT1	HP:0003200	Ragged-red muscle fibers	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0000276	Long face	-	OMIM:608931
2673	GFPT1	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:608931
2673	GFPT1	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0000218	High palate	-	OMIM:608931
2673	GFPT1	HP:0000218	High palate	HP:0040282	ORPHA:353327
2673	GFPT1	HP:0001558	Decreased fetal movement	-	OMIM:608931
2673	GFPT1	HP:0030205	Increased jitter at single fiber EMG	HP:0040282	ORPHA:353327
2673	GFPT1	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	HP:0040282	ORPHA:353327
2673	GFPT1	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0030191	Abnormal peripheral nervous system synaptic transmission	HP:0040282	ORPHA:353327
2673	GFPT1	HP:0001612	Weak cry	-	OMIM:608931
2673	GFPT1	HP:0000303	Mandibular prognathia	-	OMIM:608931
2673	GFPT1	HP:0000486	Strabismus	-	OMIM:608931
2673	GFPT1	HP:0000467	Neck muscle weakness	-	OMIM:610542
2673	GFPT1	HP:0001763	Pes planus	HP:0040282	ORPHA:353327
2673	GFPT1	HP:0000508	Ptosis	1/1	OMIM:608931
2673	GFPT1	HP:0000508	Ptosis	-	OMIM:610542
2673	GFPT1	HP:0000508	Ptosis	HP:0040283	ORPHA:353327
2673	GFPT1	HP:0000597	Ophthalmoparesis	1/1	OMIM:608931
2673	GFPT1	HP:0000597	Ophthalmoparesis	-	OMIM:610542
2674	GFRA1	HP:0010958	Bilateral renal agenesis	2/2	OMIM:619887
2674	GFRA1	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1848
2674	GFRA1	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:1848
2674	GFRA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619887
2674	GFRA1	HP:0000175	Cleft palate	HP:0040283	ORPHA:1848
2674	GFRA1	HP:0000104	Renal agenesis	HP:0040281	ORPHA:1848
2674	GFRA1	HP:0002009	Potter facies	1/1	OMIM:619887
2674	GFRA1	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:1848
2674	GFRA1	HP:0002089	Pulmonary hypoplasia	1/1	OMIM:619887
2674	GFRA1	HP:0100589	Urogenital fistula	HP:0040282	ORPHA:1848
2674	GFRA1	HP:0010497	Sirenomelia	HP:0040283	ORPHA:1848
2674	GFRA1	HP:0003577	Congenital onset	2/2	OMIM:619887
2674	GFRA1	HP:0002242	Abnormal intestine morphology	HP:0040282	ORPHA:1848
2674	GFRA1	HP:0001958	Nonketotic hypoglycemia	HP:0040281	ORPHA:1848
2674	GFRA1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1848
2674	GFRA1	HP:0034198	Second trimester onset	1/2	OMIM:619887
2674	GFRA1	HP:0100335	Non-midline cleft of the upper lip	HP:0040283	ORPHA:1848
2674	GFRA1	HP:0000286	Epicanthus	HP:0040281	ORPHA:1848
2674	GFRA1	HP:0005107	Abnormal sacrum morphology	HP:0040282	ORPHA:1848
2674	GFRA1	HP:0002878	Respiratory failure	1/1	OMIM:619887
2674	GFRA1	HP:0001562	Oligohydramnios	HP:0040281	ORPHA:1848
2674	GFRA1	HP:0001563	Fetal polyuria	HP:0040282	ORPHA:1848
2674	GFRA1	HP:0000369	Low-set ears	HP:0040281	ORPHA:1848
2674	GFRA1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1848
2674	GFRA1	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:1848
2674	GFRA1	HP:0025700	Anhydramnios	1/1	OMIM:619887
2677	GGCX	HP:0009882	Short distal phalanx of finger	-	OMIM:277450
2677	GGCX	HP:0001102	Angioid streaks of the fundus	4/10	OMIM:610842
2677	GGCX	HP:0001102	Angioid streaks of the fundus	HP:0040282	ORPHA:91135
2677	GGCX	HP:0007522	Increased number of skin folds	HP:0040281	ORPHA:436274
2677	GGCX	HP:0001342	Cerebral hemorrhage	1/4	OMIM:277450
2677	GGCX	HP:0000007	Autosomal recessive inheritance	-	OMIM:277450
2677	GGCX	HP:0000007	Autosomal recessive inheritance	-	OMIM:610842
2677	GGCX	HP:0002621	Atherosclerosis	-	OMIM:610842
2677	GGCX	HP:0002621	Atherosclerosis	HP:0040282	ORPHA:91135
2677	GGCX	HP:0008169	Reduced factor VII activity	4/4	OMIM:277450
2677	GGCX	HP:0008169	Reduced factor VII activity	-	OMIM:610842
2677	GGCX	HP:0008151	Prolonged prothrombin time	4/4	OMIM:277450
2677	GGCX	HP:0008151	Prolonged prothrombin time	-	OMIM:610842
2677	GGCX	HP:0011858	Reduced factor IX activity	4/4	OMIM:277450
2677	GGCX	HP:0011858	Reduced factor IX activity	-	OMIM:610842
2677	GGCX	HP:0003593	Infantile onset	1/4	OMIM:277450
2677	GGCX	HP:0004855	Reduced protein S activity	4/4	OMIM:277450
2677	GGCX	HP:0010655	Epiphyseal stippling	-	OMIM:277450
2677	GGCX	HP:0008321	Reduced factor X activity	4/4	OMIM:277450
2677	GGCX	HP:0008321	Reduced factor X activity	-	OMIM:610842
2677	GGCX	HP:0003645	Prolonged partial thromboplastin time	-	OMIM:277450
2677	GGCX	HP:0200034	Papule	HP:0040281	ORPHA:436274
2677	GGCX	HP:0200034	Papule	HP:0040281	ORPHA:91135
2677	GGCX	HP:0001098	Abnormal fundus morphology	HP:0040282	ORPHA:436274
2677	GGCX	HP:0003623	Neonatal onset	3/4	OMIM:277450
2677	GGCX	HP:0004944	Dilatation of the cerebral artery	HP:0040284	ORPHA:91135
2677	GGCX	HP:0005543	Reduced protein C activity	1/4	OMIM:277450
2677	GGCX	HP:0001928	Abnormality of coagulation	HP:0040281	ORPHA:91135
2677	GGCX	HP:0000662	Nyctalopia	HP:0040280	ORPHA:436274
2677	GGCX	HP:0011462	Young adult onset	-	OMIM:610842
2677	GGCX	HP:0003196	Short nose	-	OMIM:277450
2677	GGCX	HP:0000978	Bruising susceptibility	-	OMIM:277450
2677	GGCX	HP:0000973	Cutis laxa	HP:0040280	ORPHA:436274
2677	GGCX	HP:0000973	Cutis laxa	HP:0040281	ORPHA:91135
2677	GGCX	HP:0000973	Cutis laxa	-	OMIM:610842
2677	GGCX	HP:0033027	Retinal peau d'orange	2/9	OMIM:610842
2677	GGCX	HP:0001582	Redundant skin	HP:0040281	ORPHA:436274
2677	GGCX	HP:0001582	Redundant skin	HP:0040281	ORPHA:91135
2677	GGCX	HP:0025507	Yellow papule	5/8	OMIM:610842
2677	GGCX	HP:0031364	Ecchymosis	1/4	OMIM:277450
2677	GGCX	HP:0007843	Attenuation of retinal blood vessels	HP:0040281	ORPHA:436274
2677	GGCX	HP:0005261	Joint hemorrhage	1/4	OMIM:277450
2677	GGCX	HP:0002910	Elevated circulating hepatic transaminase concentration	0/4	OMIM:277450
2677	GGCX	HP:0007980	Absent retinal pigment epithelium	HP:0040281	ORPHA:436274
2677	GGCX	HP:0000486	Strabismus	HP:0040281	ORPHA:436274
2677	GGCX	HP:0000421	Epistaxis	-	OMIM:277450
2677	GGCX	HP:0000421	Epistaxis	-	OMIM:610842
2677	GGCX	HP:0000510	Rod-cone dystrophy	HP:0040280	ORPHA:436274
2677	GGCX	HP:0000587	Abnormal optic nerve morphology	HP:0040281	ORPHA:436274
2677	GGCX	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:91135
2677	GGCX	HP:0001892	Abnormal bleeding	-	OMIM:277450
2677	GGCX	HP:0001892	Abnormal bleeding	5/10	OMIM:610842
2678	GGT1	HP:6000578	Reduced tissue gamma-glutamyltransferase activity	2/2	OMIM:231950
2678	GGT1	HP:0001274	Agenesis of corpus callosum	1/2	OMIM:231950
2678	GGT1	HP:0001249	Intellectual disability	2/2	OMIM:231950
2678	GGT1	HP:0001263	Global developmental delay	2/2	OMIM:231950
2678	GGT1	HP:0000020	Urinary incontinence	2/2	OMIM:231950
2678	GGT1	HP:0001347	Hyperreflexia	2/2	OMIM:231950
2678	GGT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:231950
2678	GGT1	HP:0001337	Tremor	HP:0040284	OMIM:231950
2678	GGT1	HP:0002019	Constipation	1/2	OMIM:231950
2678	GGT1	HP:0002099	Asthma	1/2	OMIM:231950
2678	GGT1	HP:0002075	Dysdiadochokinesis	1/2	OMIM:231950
2678	GGT1	HP:0034445	Reduced gamma-glutamyltransferase level	2/2	OMIM:231950
2678	GGT1	HP:0034586	Glutathionuria	2/2	OMIM:231950
2678	GGT1	HP:0003593	Infantile onset	2/2	OMIM:231950
2678	GGT1	HP:0002282	Gray matter heterotopia	1/2	OMIM:231950
2678	GGT1	HP:0002345	Action tremor	1/2	OMIM:231950
2678	GGT1	HP:0000601	Hypotelorism	1/2	OMIM:231950
2678	GGT1	HP:0000964	Eczematoid dermatitis	1/2	OMIM:231950
2678	GGT1	HP:0000486	Strabismus	HP:0040284	OMIM:231950
2683	B4GALT1	HP:0001252	Hypotonia	2/2	OMIM:607091
2683	B4GALT1	HP:0001263	Global developmental delay	1/1	OMIM:607091
2683	B4GALT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620364
2683	B4GALT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:607091
2683	B4GALT1	HP:0001305	Dandy-Walker malformation	1/1	OMIM:607091
2683	B4GALT1	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:79332
2683	B4GALT1	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:79332
2683	B4GALT1	HP:0008947	Floppy infant	HP:0040281	ORPHA:79332
2683	B4GALT1	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:79332
2683	B4GALT1	HP:0005989	Redundant neck skin	HP:0040283	ORPHA:79332
2683	B4GALT1	HP:0002014	Diarrhea	HP:0040283	ORPHA:79332
2683	B4GALT1	HP:0011900	Hypofibrinogenemia	-	OMIM:620364
2683	B4GALT1	HP:0003577	Congenital onset	1/1	OMIM:607091
2683	B4GALT1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:79332
2683	B4GALT1	HP:0003563	Decreased LDL cholesterol concentration	-	OMIM:620364
2683	B4GALT1	HP:0003563	Decreased LDL cholesterol concentration	HP:0040282	ORPHA:79332
2683	B4GALT1	HP:0004855	Reduced protein S activity	HP:0040282	ORPHA:79332
2683	B4GALT1	HP:0003645	Prolonged partial thromboplastin time	HP:0040282	ORPHA:79332
2683	B4GALT1	HP:0003645	Prolonged partial thromboplastin time	1/1	OMIM:607091
2683	B4GALT1	HP:0005543	Reduced protein C activity	HP:0040282	ORPHA:79332
2683	B4GALT1	HP:0001976	Reduced antithrombin III activity	HP:0040282	ORPHA:79332
2683	B4GALT1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:79332
2683	B4GALT1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	-	OMIM:620364
2683	B4GALT1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:607091
2683	B4GALT1	HP:0003198	Myopathy	1/1	OMIM:607091
2683	B4GALT1	HP:0003199	Decreased muscle mass	1/1	OMIM:607091
2683	B4GALT1	HP:0003186	Inverted nipples	HP:0040283	ORPHA:79332
2683	B4GALT1	HP:0003160	Abnormal isoelectric focusing of serum transferrin	1/1	OMIM:607091
2683	B4GALT1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:79332
2683	B4GALT1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:79332
2683	B4GALT1	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:607091
2683	B4GALT1	HP:0003256	Abnormality of the coagulation cascade	HP:0040282	ORPHA:79332
2683	B4GALT1	HP:0000969	Edema	HP:0040283	ORPHA:79332
2683	B4GALT1	HP:0000256	Macrocephaly	1/1	OMIM:607091
2683	B4GALT1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:79332
2683	B4GALT1	HP:0000238	Hydrocephalus	1/1	OMIM:607091
2683	B4GALT1	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:79332
2683	B4GALT1	HP:0001518	Small for gestational age	HP:0040283	ORPHA:79332
2683	B4GALT1	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:79332
2683	B4GALT1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:79332
2683	B4GALT1	HP:0011003	High myopia	HP:0040283	ORPHA:79332
2683	B4GALT1	HP:0000369	Low-set ears	HP:0040282	ORPHA:79332
2683	B4GALT1	HP:0000343	Long philtrum	HP:0040283	ORPHA:79332
2683	B4GALT1	HP:0012301	Type II transferrin isoform profile	HP:0040281	ORPHA:79332
2683	B4GALT1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:79332
2683	B4GALT1	HP:0001622	Premature birth	HP:0040283	ORPHA:79332
2683	B4GALT1	HP:0011123	Inflammatory abnormality of the skin	HP:0040283	ORPHA:79332
2683	B4GALT1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:79332
2683	B4GALT1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:79332
2683	B4GALT1	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:79332
2683	B4GALT1	HP:0000545	Myopia	HP:0040282	ORPHA:79332
2688	GH1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2688	GH1	HP:0001293	Cranial nerve compression	-	OMIM:131300
2688	GH1	HP:0001252	Hypotonia	2/7	OMIM:615777
2688	GH1	HP:0001249	Intellectual disability	5/7	OMIM:615777
2688	GH1	HP:0001263	Global developmental delay	-	OMIM:615777
2688	GH1	HP:0002515	Waddling gait	54/102	OMIM:131300
2688	GH1	HP:0000054	Micropenis	3/3	OMIM:612781
2688	GH1	HP:0001382	Joint hypermobility	-	OMIM:615777
2688	GH1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2688	GH1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2688	GH1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2688	GH1	HP:0001324	Muscle weakness	40/96	OMIM:131300
2688	GH1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2688	GH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612781
2688	GH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:262400
2688	GH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2688	GH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:262650
2688	GH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2688	GH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:173100
2688	GH1	HP:0002650	Scoliosis	12/14	OMIM:131300
2688	GH1	HP:0002650	Scoliosis	1/1	OMIM:173100
2688	GH1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2688	GH1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2688	GH1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2688	GH1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2688	GH1	HP:0000175	Cleft palate	2/7	OMIM:615777
2688	GH1	HP:0002750	Delayed skeletal maturation	-	OMIM:262650
2688	GH1	HP:0002750	Delayed skeletal maturation	-	OMIM:612781
2688	GH1	HP:0003388	Easy fatigability	36/76	OMIM:131300
2688	GH1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2688	GH1	HP:0003593	Infantile onset	1/1	OMIM:262400
2688	GH1	HP:0010627	Anterior pituitary hypoplasia	1/1	OMIM:173100
2688	GH1	HP:0003510	Severe short stature	7/7	OMIM:615777
2688	GH1	HP:0003510	Severe short stature	1/1	OMIM:262400
2688	GH1	HP:0003510	Severe short stature	1/1	OMIM:173100
2688	GH1	HP:0002315	Headache	-	OMIM:131300
2688	GH1	HP:0004976	Knee dislocation	6/7	OMIM:615777
2688	GH1	HP:0009803	Short phalanx of finger	-	OMIM:615777
2688	GH1	HP:0009763	Limb pain	63/92	OMIM:131300
2688	GH1	HP:0003621	Juvenile onset	-	OMIM:131300
2688	GH1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2688	GH1	HP:0031878	Acromicria	2/5	OMIM:612781
2688	GH1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2688	GH1	HP:6001056	Out-toeing	-	OMIM:131300
2688	GH1	HP:0000651	Diplopia	-	OMIM:131300
2688	GH1	HP:0001943	Hypoglycemia	1/1	OMIM:262400
2688	GH1	HP:0001956	Truncal obesity	2/7	OMIM:615777
2688	GH1	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:262650
2688	GH1	HP:0001903	Anemia	HP:0040283	OMIM:131300
2688	GH1	HP:0010049	Short metacarpal	-	OMIM:615777
2688	GH1	HP:0000678	Dental crowding	-	OMIM:615777
2688	GH1	HP:0000670	Carious teeth	-	OMIM:131300
2688	GH1	HP:0011304	Broad thumb	2/7	OMIM:615777
2688	GH1	HP:0000668	Hypodontia	-	OMIM:615777
2688	GH1	HP:0000664	Synophrys	-	OMIM:615777
2688	GH1	HP:0004322	Short stature	5/5	OMIM:612781
2688	GH1	HP:0004396	Poor appetite	-	OMIM:131300
2688	GH1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2688	GH1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2688	GH1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2688	GH1	HP:0003026	Short long bone	7/7	OMIM:615777
2688	GH1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2688	GH1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2688	GH1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2688	GH1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2688	GH1	HP:0000750	Delayed speech and language development	-	OMIM:615777
2688	GH1	HP:0011463	Childhood onset	1/1	OMIM:173100
2688	GH1	HP:0011461	Fetal onset	7/7	OMIM:615777
2688	GH1	HP:0000774	Narrow chest	2/7	OMIM:615777
2688	GH1	HP:0000926	Platyspondyly	1/7	OMIM:615777
2688	GH1	HP:0003180	Flat acetabular roof	-	OMIM:615777
2688	GH1	HP:0004482	Relative macrocephaly	-	OMIM:615777
2688	GH1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2688	GH1	HP:0004474	Persistent open anterior fontanelle	1/1	OMIM:262400
2688	GH1	HP:0000839	Pituitary dwarfism	-	OMIM:173100
2688	GH1	HP:0000839	Pituitary dwarfism	-	OMIM:262650
2688	GH1	HP:0000824	Decreased response to growth hormone stimulation test	5/5	OMIM:612781
2688	GH1	HP:0000824	Decreased response to growth hormone stimulation test	1/1	OMIM:173100
2688	GH1	HP:0000823	Delayed puberty	-	OMIM:131300
2688	GH1	HP:0000894	Short clavicles	-	OMIM:615777
2688	GH1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2688	GH1	HP:0034323	Reduced circulating growth hormone concentration	1/1	OMIM:262400
2688	GH1	HP:0034323	Reduced circulating growth hormone concentration	5/5	OMIM:612781
2688	GH1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2688	GH1	HP:0000286	Epicanthus	1/7	OMIM:615777
2688	GH1	HP:0000280	Coarse facial features	2/7	OMIM:615777
2688	GH1	HP:0002827	Hip dislocation	3/7	OMIM:615777
2688	GH1	HP:0000252	Microcephaly	-	OMIM:615777
2688	GH1	HP:0002857	Genu valgum	-	OMIM:131300
2688	GH1	HP:0001533	Slender build	-	OMIM:131300
2688	GH1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2688	GH1	HP:0001510	Growth delay	-	OMIM:262650
2688	GH1	HP:0001510	Growth delay	1/1	OMIM:262400
2688	GH1	HP:0007807	Optic nerve compression	-	OMIM:131300
2688	GH1	HP:0012368	Flat face	7/7	OMIM:615777
2688	GH1	HP:0006579	Prolonged neonatal jaundice	1/1	OMIM:262400
2688	GH1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2688	GH1	HP:0000365	Hearing impairment	10/67	OMIM:131300
2688	GH1	HP:0000343	Long philtrum	1/7	OMIM:615777
2688	GH1	HP:0011001	Increased bone mineral density	-	OMIM:131300
2688	GH1	HP:0000348	High forehead	1/1	OMIM:262400
2688	GH1	HP:0000311	Round face	2/7	OMIM:615777
2688	GH1	HP:0002970	Genu varum	-	OMIM:615777
2688	GH1	HP:0000303	Mandibular prognathia	-	OMIM:131300
2688	GH1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2688	GH1	HP:0000457	Depressed nasal ridge	1/1	OMIM:262400
2688	GH1	HP:0000470	Short neck	1/7	OMIM:615777
2688	GH1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2688	GH1	HP:0001763	Pes planus	1/7	OMIM:615777
2688	GH1	HP:0001840	Metatarsus adductus	-	OMIM:615777
2688	GH1	HP:0000520	Proptosis	2/4	OMIM:131300
2688	GH1	HP:0000520	Proptosis	7/7	OMIM:615777
2688	GH1	HP:0030353	Decreased serum insulin-like growth factor 1	1/1	OMIM:173100
2688	GH1	HP:0030353	Decreased serum insulin-like growth factor 1	1/1	OMIM:262400
2688	GH1	HP:0000592	Blue sclerae	2/7	OMIM:615777
2688	GH1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2688	GH1	HP:0012514	Lower limb pain	4/4	OMIM:131300
2690	GHR	HP:0001156	Brachydactyly	HP:0040282	ORPHA:633
2690	GHR	HP:0001114	Xanthelasma	-	OMIM:143890
2690	GHR	HP:0009924	Aplasia/Hypoplasia involving the nose	HP:0040281	ORPHA:633
2690	GHR	HP:0010874	Tendon xanthomatosis	-	OMIM:143890
2690	GHR	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:633
2690	GHR	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2690	GHR	HP:0001293	Cranial nerve compression	-	OMIM:131300
2690	GHR	HP:0001270	Motor delay	HP:0040282	ORPHA:633
2690	GHR	HP:0001252	Hypotonia	2/7	OMIM:615777
2690	GHR	HP:0001249	Intellectual disability	HP:0040283	ORPHA:633
2690	GHR	HP:0001249	Intellectual disability	5/7	OMIM:615777
2690	GHR	HP:0001263	Global developmental delay	-	OMIM:615777
2690	GHR	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:633
2690	GHR	HP:0002515	Waddling gait	54/102	OMIM:131300
2690	GHR	HP:0001367	Abnormal joint morphology	-	OMIM:262500
2690	GHR	HP:0001382	Joint hypermobility	-	OMIM:615777
2690	GHR	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2690	GHR	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2690	GHR	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:633
2690	GHR	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2690	GHR	HP:0001324	Muscle weakness	40/96	OMIM:131300
2690	GHR	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2690	GHR	HP:0000007	Autosomal recessive inheritance	-	OMIM:143890
2690	GHR	HP:0000007	Autosomal recessive inheritance	-	OMIM:262500
2690	GHR	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2690	GHR	HP:0000006	Autosomal dominant inheritance	-	OMIM:143890
2690	GHR	HP:0000006	Autosomal dominant inheritance	-	OMIM:604271
2690	GHR	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2690	GHR	HP:0002650	Scoliosis	12/14	OMIM:131300
2690	GHR	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2690	GHR	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2690	GHR	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2690	GHR	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2690	GHR	HP:0000175	Cleft palate	2/7	OMIM:615777
2690	GHR	HP:0002758	Osteoarthritis	HP:0040283	ORPHA:633
2690	GHR	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:314802
2690	GHR	HP:0002750	Delayed skeletal maturation	4/4	OMIM:262500
2690	GHR	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:633
2690	GHR	HP:0011800	Midface retrusion	HP:0040283	ORPHA:314802
2690	GHR	HP:0003388	Easy fatigability	36/76	OMIM:131300
2690	GHR	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2690	GHR	HP:0003510	Severe short stature	7/7	OMIM:615777
2690	GHR	HP:0003510	Severe short stature	4/5	OMIM:262500
2690	GHR	HP:0003510	Severe short stature	HP:0040281	ORPHA:633
2690	GHR	HP:0002315	Headache	-	OMIM:131300
2690	GHR	HP:0004976	Knee dislocation	6/7	OMIM:615777
2690	GHR	HP:0009826	Limb undergrowth	-	OMIM:262500
2690	GHR	HP:0009804	Tooth agenesis	HP:0040281	ORPHA:633
2690	GHR	HP:0009811	Abnormality of the elbow	HP:0040282	ORPHA:633
2690	GHR	HP:0009803	Short phalanx of finger	-	OMIM:615777
2690	GHR	HP:0001084	Corneal arcus	-	OMIM:143890
2690	GHR	HP:0009763	Limb pain	63/92	OMIM:131300
2690	GHR	HP:0003621	Juvenile onset	-	OMIM:131300
2690	GHR	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2690	GHR	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2690	GHR	HP:6001056	Out-toeing	-	OMIM:131300
2690	GHR	HP:0000651	Diplopia	-	OMIM:131300
2690	GHR	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:314802
2690	GHR	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:633
2690	GHR	HP:0001956	Truncal obesity	2/7	OMIM:615777
2690	GHR	HP:0001956	Truncal obesity	HP:0040281	ORPHA:633
2690	GHR	HP:0001903	Anemia	HP:0040283	OMIM:131300
2690	GHR	HP:0010049	Short metacarpal	-	OMIM:615777
2690	GHR	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:633
2690	GHR	HP:0000678	Dental crowding	-	OMIM:615777
2690	GHR	HP:0000691	Microdontia	HP:0040281	ORPHA:633
2690	GHR	HP:0000670	Carious teeth	-	OMIM:131300
2690	GHR	HP:0011304	Broad thumb	2/7	OMIM:615777
2690	GHR	HP:0000668	Hypodontia	-	OMIM:615777
2690	GHR	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:633
2690	GHR	HP:0000664	Synophrys	-	OMIM:615777
2690	GHR	HP:0004322	Short stature	HP:0040281	ORPHA:314802
2690	GHR	HP:0004322	Short stature	4/4	OMIM:604271
2690	GHR	HP:0004396	Poor appetite	-	OMIM:131300
2690	GHR	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2690	GHR	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2690	GHR	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2690	GHR	HP:0003026	Short long bone	7/7	OMIM:615777
2690	GHR	HP:0003026	Short long bone	-	OMIM:262500
2690	GHR	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2690	GHR	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2690	GHR	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2690	GHR	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2690	GHR	HP:0000750	Delayed speech and language development	-	OMIM:615777
2690	GHR	HP:0011463	Childhood onset	1/1	OMIM:262500
2690	GHR	HP:0011461	Fetal onset	7/7	OMIM:615777
2690	GHR	HP:0000774	Narrow chest	2/7	OMIM:615777
2690	GHR	HP:0003124	Hypercholesterolemia	HP:0040283	ORPHA:633
2690	GHR	HP:0000929	Abnormal skull morphology	HP:0040283	ORPHA:633
2690	GHR	HP:0000926	Platyspondyly	1/7	OMIM:615777
2690	GHR	HP:0003180	Flat acetabular roof	-	OMIM:615777
2690	GHR	HP:0004482	Relative macrocephaly	-	OMIM:615777
2690	GHR	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2690	GHR	HP:0003141	Increased LDL cholesterol concentration	-	OMIM:143890
2690	GHR	HP:0000818	Abnormality of the endocrine system	HP:0040281	ORPHA:633
2690	GHR	HP:0000823	Delayed puberty	HP:0040283	ORPHA:314802
2690	GHR	HP:0000823	Delayed puberty	-	OMIM:131300
2690	GHR	HP:0000823	Delayed puberty	HP:0040282	ORPHA:633
2690	GHR	HP:0000894	Short clavicles	-	OMIM:615777
2690	GHR	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2690	GHR	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2690	GHR	HP:0000966	Hypohidrosis	HP:0040283	ORPHA:633
2690	GHR	HP:0000286	Epicanthus	1/7	OMIM:615777
2690	GHR	HP:0000280	Coarse facial features	2/7	OMIM:615777
2690	GHR	HP:0000274	Small face	-	OMIM:262500
2690	GHR	HP:0002827	Hip dislocation	3/7	OMIM:615777
2690	GHR	HP:0000252	Microcephaly	-	OMIM:615777
2690	GHR	HP:0002857	Genu valgum	-	OMIM:131300
2690	GHR	HP:0001533	Slender build	-	OMIM:131300
2690	GHR	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2690	GHR	HP:0001510	Growth delay	HP:0040281	ORPHA:314802
2690	GHR	HP:0007807	Optic nerve compression	-	OMIM:131300
2690	GHR	HP:0012368	Flat face	7/7	OMIM:615777
2690	GHR	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2690	GHR	HP:0000365	Hearing impairment	10/67	OMIM:131300
2690	GHR	HP:0000343	Long philtrum	1/7	OMIM:615777
2690	GHR	HP:0011001	Increased bone mineral density	-	OMIM:131300
2690	GHR	HP:0000348	High forehead	HP:0040281	ORPHA:633
2690	GHR	HP:0000347	Micrognathia	HP:0040281	ORPHA:633
2690	GHR	HP:0001677	Coronary artery atherosclerosis	-	OMIM:143890
2690	GHR	HP:0000311	Round face	2/7	OMIM:615777
2690	GHR	HP:0001620	Abnormally high-pitched voice	-	OMIM:262500
2690	GHR	HP:0001620	Abnormally high-pitched voice	HP:0040283	ORPHA:633
2690	GHR	HP:0002970	Genu varum	-	OMIM:615777
2690	GHR	HP:0000303	Mandibular prognathia	-	OMIM:131300
2690	GHR	HP:0005281	Hypoplastic nasal bridge	HP:0040281	ORPHA:633
2690	GHR	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2690	GHR	HP:0000457	Depressed nasal ridge	HP:0040283	ORPHA:633
2690	GHR	HP:0000470	Short neck	1/7	OMIM:615777
2690	GHR	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2690	GHR	HP:0001763	Pes planus	1/7	OMIM:615777
2690	GHR	HP:0001840	Metatarsus adductus	-	OMIM:615777
2690	GHR	HP:0000520	Proptosis	2/4	OMIM:131300
2690	GHR	HP:0000520	Proptosis	7/7	OMIM:615777
2690	GHR	HP:0001831	Short toe	HP:0040282	ORPHA:633
2690	GHR	HP:0030353	Decreased serum insulin-like growth factor 1	HP:0040281	ORPHA:314802
2690	GHR	HP:0030353	Decreased serum insulin-like growth factor 1	-	OMIM:604271
2690	GHR	HP:0030353	Decreased serum insulin-like growth factor 1	4/4	OMIM:262500
2690	GHR	HP:0012569	Delayed menarche	-	OMIM:262500
2690	GHR	HP:0000592	Blue sclerae	2/7	OMIM:615777
2690	GHR	HP:0000592	Blue sclerae	HP:0040283	OMIM:262500
2690	GHR	HP:0000592	Blue sclerae	HP:0040283	ORPHA:633
2690	GHR	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2690	GHR	HP:0012514	Lower limb pain	4/4	OMIM:131300
2692	GHRHR	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2692	GHRHR	HP:0001293	Cranial nerve compression	-	OMIM:131300
2692	GHRHR	HP:0001252	Hypotonia	2/7	OMIM:615777
2692	GHRHR	HP:0001249	Intellectual disability	5/7	OMIM:615777
2692	GHRHR	HP:0001263	Global developmental delay	-	OMIM:615777
2692	GHRHR	HP:0031079	Impaired growth-hormone response to insulin stimulation test	-	OMIM:618157
2692	GHRHR	HP:0002515	Waddling gait	54/102	OMIM:131300
2692	GHRHR	HP:0001382	Joint hypermobility	-	OMIM:615777
2692	GHRHR	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2692	GHRHR	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2692	GHRHR	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2692	GHRHR	HP:0001324	Muscle weakness	40/96	OMIM:131300
2692	GHRHR	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2692	GHRHR	HP:0000007	Autosomal recessive inheritance	-	OMIM:618157
2692	GHRHR	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2692	GHRHR	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2692	GHRHR	HP:0002650	Scoliosis	12/14	OMIM:131300
2692	GHRHR	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2692	GHRHR	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2692	GHRHR	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2692	GHRHR	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2692	GHRHR	HP:0000175	Cleft palate	2/7	OMIM:615777
2692	GHRHR	HP:0002750	Delayed skeletal maturation	-	OMIM:618157
2692	GHRHR	HP:0003388	Easy fatigability	36/76	OMIM:131300
2692	GHRHR	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2692	GHRHR	HP:0010627	Anterior pituitary hypoplasia	-	OMIM:618157
2692	GHRHR	HP:0003510	Severe short stature	7/7	OMIM:615777
2692	GHRHR	HP:0003510	Severe short stature	6/6	OMIM:618157
2692	GHRHR	HP:0002315	Headache	-	OMIM:131300
2692	GHRHR	HP:0004976	Knee dislocation	6/7	OMIM:615777
2692	GHRHR	HP:0009803	Short phalanx of finger	-	OMIM:615777
2692	GHRHR	HP:0009763	Limb pain	63/92	OMIM:131300
2692	GHRHR	HP:0003621	Juvenile onset	-	OMIM:131300
2692	GHRHR	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2692	GHRHR	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2692	GHRHR	HP:6001056	Out-toeing	-	OMIM:131300
2692	GHRHR	HP:0000651	Diplopia	-	OMIM:131300
2692	GHRHR	HP:0001956	Truncal obesity	2/7	OMIM:615777
2692	GHRHR	HP:0001903	Anemia	HP:0040283	OMIM:131300
2692	GHRHR	HP:0010049	Short metacarpal	-	OMIM:615777
2692	GHRHR	HP:0000678	Dental crowding	-	OMIM:615777
2692	GHRHR	HP:0000670	Carious teeth	-	OMIM:131300
2692	GHRHR	HP:0011304	Broad thumb	2/7	OMIM:615777
2692	GHRHR	HP:0000668	Hypodontia	-	OMIM:615777
2692	GHRHR	HP:0000664	Synophrys	-	OMIM:615777
2692	GHRHR	HP:0004396	Poor appetite	-	OMIM:131300
2692	GHRHR	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2692	GHRHR	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2692	GHRHR	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2692	GHRHR	HP:0003026	Short long bone	7/7	OMIM:615777
2692	GHRHR	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2692	GHRHR	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2692	GHRHR	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2692	GHRHR	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2692	GHRHR	HP:0000750	Delayed speech and language development	-	OMIM:615777
2692	GHRHR	HP:0011461	Fetal onset	7/7	OMIM:615777
2692	GHRHR	HP:0000774	Narrow chest	2/7	OMIM:615777
2692	GHRHR	HP:0000926	Platyspondyly	1/7	OMIM:615777
2692	GHRHR	HP:0003180	Flat acetabular roof	-	OMIM:615777
2692	GHRHR	HP:0004482	Relative macrocephaly	-	OMIM:615777
2692	GHRHR	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2692	GHRHR	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:618157
2692	GHRHR	HP:0000823	Delayed puberty	-	OMIM:131300
2692	GHRHR	HP:0000894	Short clavicles	-	OMIM:615777
2692	GHRHR	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2692	GHRHR	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2692	GHRHR	HP:0000286	Epicanthus	1/7	OMIM:615777
2692	GHRHR	HP:0000280	Coarse facial features	2/7	OMIM:615777
2692	GHRHR	HP:0002827	Hip dislocation	3/7	OMIM:615777
2692	GHRHR	HP:0000252	Microcephaly	-	OMIM:615777
2692	GHRHR	HP:0002857	Genu valgum	-	OMIM:131300
2692	GHRHR	HP:0001533	Slender build	-	OMIM:131300
2692	GHRHR	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2692	GHRHR	HP:0007807	Optic nerve compression	-	OMIM:131300
2692	GHRHR	HP:0012368	Flat face	7/7	OMIM:615777
2692	GHRHR	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2692	GHRHR	HP:0000365	Hearing impairment	10/67	OMIM:131300
2692	GHRHR	HP:0000343	Long philtrum	1/7	OMIM:615777
2692	GHRHR	HP:0011001	Increased bone mineral density	-	OMIM:131300
2692	GHRHR	HP:0000311	Round face	2/7	OMIM:615777
2692	GHRHR	HP:0002970	Genu varum	-	OMIM:615777
2692	GHRHR	HP:0000303	Mandibular prognathia	-	OMIM:131300
2692	GHRHR	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2692	GHRHR	HP:0000470	Short neck	1/7	OMIM:615777
2692	GHRHR	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2692	GHRHR	HP:0001763	Pes planus	1/7	OMIM:615777
2692	GHRHR	HP:0001840	Metatarsus adductus	-	OMIM:615777
2692	GHRHR	HP:0000520	Proptosis	2/4	OMIM:131300
2692	GHRHR	HP:0000520	Proptosis	7/7	OMIM:615777
2692	GHRHR	HP:0030353	Decreased serum insulin-like growth factor 1	-	OMIM:618157
2692	GHRHR	HP:0000592	Blue sclerae	2/7	OMIM:615777
2692	GHRHR	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2692	GHRHR	HP:0012514	Lower limb pain	4/4	OMIM:131300
2693	GHSR	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2693	GHSR	HP:0001293	Cranial nerve compression	-	OMIM:131300
2693	GHSR	HP:0001252	Hypotonia	2/7	OMIM:615777
2693	GHSR	HP:0001249	Intellectual disability	5/7	OMIM:615777
2693	GHSR	HP:0001263	Global developmental delay	-	OMIM:615777
2693	GHSR	HP:0002515	Waddling gait	54/102	OMIM:131300
2693	GHSR	HP:0001382	Joint hypermobility	-	OMIM:615777
2693	GHSR	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2693	GHSR	HP:0008897	Postnatal growth retardation	-	OMIM:615925
2693	GHSR	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2693	GHSR	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2693	GHSR	HP:0001324	Muscle weakness	40/96	OMIM:131300
2693	GHSR	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2693	GHSR	HP:0000007	Autosomal recessive inheritance	-	OMIM:615925
2693	GHSR	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2693	GHSR	HP:0000006	Autosomal dominant inheritance	-	OMIM:615925
2693	GHSR	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2693	GHSR	HP:0002650	Scoliosis	12/14	OMIM:131300
2693	GHSR	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2693	GHSR	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2693	GHSR	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2693	GHSR	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2693	GHSR	HP:0000175	Cleft palate	2/7	OMIM:615777
2693	GHSR	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:314811
2693	GHSR	HP:0002750	Delayed skeletal maturation	HP:0040283	OMIM:615925
2693	GHSR	HP:0002027	Abdominal pain	HP:0040281	ORPHA:314811
2693	GHSR	HP:0002013	Vomiting	HP:0040281	ORPHA:314811
2693	GHSR	HP:0003388	Easy fatigability	36/76	OMIM:131300
2693	GHSR	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2693	GHSR	HP:0003510	Severe short stature	7/7	OMIM:615777
2693	GHSR	HP:0002315	Headache	-	OMIM:131300
2693	GHSR	HP:0004976	Knee dislocation	6/7	OMIM:615777
2693	GHSR	HP:0009803	Short phalanx of finger	-	OMIM:615777
2693	GHSR	HP:0009763	Limb pain	63/92	OMIM:131300
2693	GHSR	HP:0003621	Juvenile onset	-	OMIM:131300
2693	GHSR	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2693	GHSR	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2693	GHSR	HP:6001056	Out-toeing	-	OMIM:131300
2693	GHSR	HP:0000651	Diplopia	-	OMIM:131300
2693	GHSR	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:314811
2693	GHSR	HP:0001946	Ketosis	HP:0040281	ORPHA:314811
2693	GHSR	HP:0001956	Truncal obesity	2/7	OMIM:615777
2693	GHSR	HP:0001903	Anemia	HP:0040283	OMIM:131300
2693	GHSR	HP:0010049	Short metacarpal	-	OMIM:615777
2693	GHSR	HP:0000678	Dental crowding	-	OMIM:615777
2693	GHSR	HP:0000670	Carious teeth	-	OMIM:131300
2693	GHSR	HP:0011304	Broad thumb	2/7	OMIM:615777
2693	GHSR	HP:0000668	Hypodontia	-	OMIM:615777
2693	GHSR	HP:0000664	Synophrys	-	OMIM:615777
2693	GHSR	HP:0004325	Decreased body weight	HP:0040281	ORPHA:314811
2693	GHSR	HP:0004323	Abnormality of body weight	HP:0040282	ORPHA:314811
2693	GHSR	HP:0004322	Short stature	HP:0040281	ORPHA:314811
2693	GHSR	HP:0004322	Short stature	-	OMIM:615925
2693	GHSR	HP:0004396	Poor appetite	-	OMIM:131300
2693	GHSR	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2693	GHSR	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2693	GHSR	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2693	GHSR	HP:0003026	Short long bone	7/7	OMIM:615777
2693	GHSR	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2693	GHSR	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2693	GHSR	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2693	GHSR	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2693	GHSR	HP:0000750	Delayed speech and language development	-	OMIM:615777
2693	GHSR	HP:0011461	Fetal onset	7/7	OMIM:615777
2693	GHSR	HP:0000774	Narrow chest	2/7	OMIM:615777
2693	GHSR	HP:0000926	Platyspondyly	1/7	OMIM:615777
2693	GHSR	HP:0003180	Flat acetabular roof	-	OMIM:615777
2693	GHSR	HP:0004482	Relative macrocephaly	-	OMIM:615777
2693	GHSR	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2693	GHSR	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:615925
2693	GHSR	HP:0000823	Delayed puberty	-	OMIM:131300
2693	GHSR	HP:0000823	Delayed puberty	HP:0040283	ORPHA:314811
2693	GHSR	HP:0000894	Short clavicles	-	OMIM:615777
2693	GHSR	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2693	GHSR	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2693	GHSR	HP:0000286	Epicanthus	1/7	OMIM:615777
2693	GHSR	HP:0000280	Coarse facial features	2/7	OMIM:615777
2693	GHSR	HP:0002827	Hip dislocation	3/7	OMIM:615777
2693	GHSR	HP:0000252	Microcephaly	-	OMIM:615777
2693	GHSR	HP:0002857	Genu valgum	-	OMIM:131300
2693	GHSR	HP:0001533	Slender build	-	OMIM:131300
2693	GHSR	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2693	GHSR	HP:0001510	Growth delay	HP:0040281	ORPHA:314811
2693	GHSR	HP:0007807	Optic nerve compression	-	OMIM:131300
2693	GHSR	HP:0012368	Flat face	7/7	OMIM:615777
2693	GHSR	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2693	GHSR	HP:0000365	Hearing impairment	10/67	OMIM:131300
2693	GHSR	HP:0000343	Long philtrum	1/7	OMIM:615777
2693	GHSR	HP:0011001	Increased bone mineral density	-	OMIM:131300
2693	GHSR	HP:0000311	Round face	2/7	OMIM:615777
2693	GHSR	HP:0002970	Genu varum	-	OMIM:615777
2693	GHSR	HP:0000303	Mandibular prognathia	-	OMIM:131300
2693	GHSR	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2693	GHSR	HP:0000470	Short neck	1/7	OMIM:615777
2693	GHSR	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2693	GHSR	HP:0001763	Pes planus	1/7	OMIM:615777
2693	GHSR	HP:0012506	Small pituitary gland	HP:0040283	OMIM:615925
2693	GHSR	HP:0001840	Metatarsus adductus	-	OMIM:615777
2693	GHSR	HP:0000520	Proptosis	2/4	OMIM:131300
2693	GHSR	HP:0000520	Proptosis	7/7	OMIM:615777
2693	GHSR	HP:0030353	Decreased serum insulin-like growth factor 1	HP:0040281	ORPHA:314811
2693	GHSR	HP:0000592	Blue sclerae	2/7	OMIM:615777
2693	GHSR	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2693	GHSR	HP:0012514	Lower limb pain	4/4	OMIM:131300
2694	CBLIF	HP:0001328	Specific learning disability	HP:0040282	ORPHA:332
2694	CBLIF	HP:0000007	Autosomal recessive inheritance	-	OMIM:261000
2694	CBLIF	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:261000
2694	CBLIF	HP:0012120	Methylmalonic aciduria	HP:0040283	ORPHA:332
2694	CBLIF	HP:0025406	Asthenia	HP:0040282	ORPHA:332
2694	CBLIF	HP:0002719	Recurrent infections	HP:0040282	ORPHA:332
2694	CBLIF	HP:0100502	Decreased circulating vitamin B12 concentration	HP:0040281	ORPHA:332
2694	CBLIF	HP:0100502	Decreased circulating vitamin B12 concentration	1/1	OMIM:261000
2694	CBLIF	HP:0003474	Somatic sensory dysfunction	-	OMIM:261000
2694	CBLIF	HP:0002160	Hyperhomocystinemia	HP:0040282	ORPHA:332
2694	CBLIF	HP:0003401	Paresthesia	HP:0040283	ORPHA:332
2694	CBLIF	HP:0003401	Paresthesia	-	OMIM:261000
2694	CBLIF	HP:0200143	Megaloblastic erythroid hyperplasia	HP:0040283	ORPHA:332
2694	CBLIF	HP:0200143	Megaloblastic erythroid hyperplasia	-	OMIM:261000
2694	CBLIF	HP:0200118	Malabsorption of Vitamin B12	1/1	OMIM:261000
2694	CBLIF	HP:6000344	Anti-intrinsic factor antibody positivity	-	ORPHA:332
2694	CBLIF	HP:0002315	Headache	HP:0040283	ORPHA:332
2694	CBLIF	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:332
2694	CBLIF	HP:0020181	Reduced haptoglobin level	1/1	OMIM:261000
2694	CBLIF	HP:0003621	Juvenile onset	-	OMIM:261000
2694	CBLIF	HP:0005518	Increased mean corpuscular volume	-	OMIM:261000
2694	CBLIF	HP:0006827	Atrophy of the spinal cord	HP:0040283	ORPHA:332
2694	CBLIF	HP:0031965	Increased RBC distribution width	1/1	OMIM:261000
2694	CBLIF	HP:0000726	Dementia	HP:0040282	ORPHA:332
2694	CBLIF	HP:0011463	Childhood onset	1/1	OMIM:261000
2694	CBLIF	HP:0001510	Growth delay	HP:0040283	ORPHA:332
2694	CBLIF	HP:0005219	Absence of intrinsic factor	HP:0040280	ORPHA:332
2694	CBLIF	HP:0005219	Absence of intrinsic factor	1/1	OMIM:261000
2694	CBLIF	HP:0002912	Methylmalonic acidemia	HP:0040282	ORPHA:332
2694	CBLIF	HP:0001889	Megaloblastic anemia	HP:0040281	ORPHA:332
2694	CBLIF	HP:0001889	Megaloblastic anemia	1/1	OMIM:261000
2697	GJA1	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:2710
2697	GJA1	HP:0009900	Unilateral deafness	HP:0040283	ORPHA:1010
2697	GJA1	HP:0001182	Tapered finger	HP:0040283	ORPHA:317
2697	GJA1	HP:0001156	Brachydactyly	HP:0040283	ORPHA:2710
2697	GJA1	HP:0001156	Brachydactyly	HP:0040283	ORPHA:317
2697	GJA1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2710
2697	GJA1	HP:0025114	Hypergranulosis	3/3	OMIM:617525
2697	GJA1	HP:0002435	Meningocele	HP:0040283	ORPHA:1010
2697	GJA1	HP:0009917	Persistent pupillary membrane	1/2	OMIM:257850
2697	GJA1	HP:0009886	Trichorrhexis nodosa	HP:0040283	ORPHA:1010
2697	GJA1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2697	GJA1	HP:0001293	Cranial nerve compression	-	OMIM:131300
2697	GJA1	HP:0001291	Abnormal cranial nerve morphology	HP:0040283	ORPHA:1522
2697	GJA1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:2710
2697	GJA1	HP:0001250	Seizure	HP:0040282	ORPHA:2710
2697	GJA1	HP:0001250	Seizure	HP:0040284	ORPHA:1010
2697	GJA1	HP:0001250	Seizure	-	OMIM:164200
2697	GJA1	HP:0001252	Hypotonia	2/7	OMIM:615777
2697	GJA1	HP:0001251	Ataxia	HP:0040282	ORPHA:2710
2697	GJA1	HP:0001251	Ataxia	-	OMIM:164200
2697	GJA1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2710
2697	GJA1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:317
2697	GJA1	HP:0001249	Intellectual disability	-	OMIM:164200
2697	GJA1	HP:0001249	Intellectual disability	0/5	OMIM:218400
2697	GJA1	HP:0001249	Intellectual disability	5/7	OMIM:615777
2697	GJA1	HP:0001260	Dysarthria	HP:0040282	ORPHA:2710
2697	GJA1	HP:0001260	Dysarthria	-	OMIM:164200
2697	GJA1	HP:0001263	Global developmental delay	1/2	OMIM:257850
2697	GJA1	HP:0001263	Global developmental delay	-	OMIM:615777
2697	GJA1	HP:0001257	Spasticity	HP:0040282	ORPHA:2710
2697	GJA1	HP:0001257	Spasticity	-	OMIM:164200
2697	GJA1	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:2710
2697	GJA1	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:2710
2697	GJA1	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:93404
2697	GJA1	HP:0007400	Irregular hyperpigmentation	HP:0040282	ORPHA:317
2697	GJA1	HP:0031057	Skin fissure	HP:0040283	ORPHA:1010
2697	GJA1	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:2710
2697	GJA1	HP:0002515	Waddling gait	54/102	OMIM:131300
2697	GJA1	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:2710
2697	GJA1	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:164200
2697	GJA1	HP:0001382	Joint hypermobility	-	OMIM:615777
2697	GJA1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2710
2697	GJA1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2697	GJA1	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:317
2697	GJA1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2697	GJA1	HP:0007556	Plantar hyperkeratosis	1/1	OMIM:104100
2697	GJA1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2697	GJA1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:2710
2697	GJA1	HP:0001324	Muscle weakness	40/96	OMIM:131300
2697	GJA1	HP:0000011	Neurogenic bladder	HP:0040282	ORPHA:2710
2697	GJA1	HP:0000011	Neurogenic bladder	12/20	OMIM:164200
2697	GJA1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2697	GJA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:218400
2697	GJA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:257850
2697	GJA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2697	GJA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:186100
2697	GJA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:104100
2697	GJA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
2697	GJA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617525
2697	GJA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2697	GJA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:164200
2697	GJA1	HP:0002652	Skeletal dysplasia	HP:0040282	ORPHA:1522
2697	GJA1	HP:0002650	Scoliosis	12/14	OMIM:131300
2697	GJA1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2697	GJA1	HP:0002619	Varicose veins	-	OMIM:153400
2697	GJA1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2697	GJA1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2697	GJA1	HP:0025493	Palmoplantar erythema	1/1	OMIM:104100
2697	GJA1	HP:0000187	Broad alveolar ridges	-	OMIM:218400
2697	GJA1	HP:0000187	Broad alveolar ridges	-	OMIM:164200
2697	GJA1	HP:0000187	Broad alveolar ridges	HP:0040282	ORPHA:2710
2697	GJA1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2697	GJA1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:2710
2697	GJA1	HP:0000160	Narrow mouth	-	OMIM:257850
2697	GJA1	HP:0000175	Cleft palate	HP:0040281	ORPHA:2710
2697	GJA1	HP:0000175	Cleft palate	-	OMIM:164200
2697	GJA1	HP:0000175	Cleft palate	5/39	OMIM:153400
2697	GJA1	HP:0000175	Cleft palate	2/7	OMIM:615777
2697	GJA1	HP:0006334	Hypoplasia of the primary teeth	1/1	OMIM:257850
2697	GJA1	HP:0006323	Premature loss of primary teeth	HP:0040281	ORPHA:2710
2697	GJA1	HP:0006297	Enamel hypoplasia	-	OMIM:164200
2697	GJA1	HP:0002750	Delayed skeletal maturation	-	OMIM:257850
2697	GJA1	HP:0002007	Frontal bossing	-	OMIM:257850
2697	GJA1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:2710
2697	GJA1	HP:0003388	Easy fatigability	36/76	OMIM:131300
2697	GJA1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2697	GJA1	HP:0010491	Digital constriction ring	HP:0040282	ORPHA:1010
2697	GJA1	HP:0002135	Basal ganglia calcification	-	OMIM:164200
2697	GJA1	HP:0011939	3-4 finger cutaneous syndactyly	3/9	OMIM:186100
2697	GJA1	HP:0011939	3-4 finger cutaneous syndactyly	1/2	OMIM:257850
2697	GJA1	HP:0002194	Delayed gross motor development	1/2	OMIM:257850
2697	GJA1	HP:0002164	Nail dysplasia	1/1	OMIM:104100
2697	GJA1	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:2710
2697	GJA1	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:93404
2697	GJA1	HP:0010537	Wide cranial sutures	1/2	OMIM:257850
2697	GJA1	HP:0011838	Sclerodactyly	HP:0040282	ORPHA:1010
2697	GJA1	HP:0003593	Infantile onset	3/3	OMIM:617525
2697	GJA1	HP:0002273	Tetraparesis	-	OMIM:164200
2697	GJA1	HP:0003577	Congenital onset	2/2	OMIM:257850
2697	GJA1	HP:0003577	Congenital onset	2/2	OMIM:104100
2697	GJA1	HP:0002223	Absent eyebrow	HP:0040283	ORPHA:1010
2697	GJA1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
2697	GJA1	HP:0002217	Slow-growing hair	HP:0040282	ORPHA:2710
2697	GJA1	HP:0002217	Slow-growing hair	-	OMIM:164200
2697	GJA1	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:317
2697	GJA1	HP:0002212	Curly hair	HP:0040282	ORPHA:2710
2697	GJA1	HP:0002213	Fine hair	HP:0040283	ORPHA:2710
2697	GJA1	HP:0002213	Fine hair	-	OMIM:164200
2697	GJA1	HP:0002213	Fine hair	2/2	OMIM:257850
2697	GJA1	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:1010
2697	GJA1	HP:0009743	Distichiasis	42/42	OMIM:153400
2697	GJA1	HP:0009748	Large earlobe	-	OMIM:257850
2697	GJA1	HP:0100774	Hyperostosis	HP:0040282	ORPHA:2710
2697	GJA1	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:1010
2697	GJA1	HP:0010705	4-5 finger cutaneous syndactyly	9/9	OMIM:186100
2697	GJA1	HP:0010705	4-5 finger cutaneous syndactyly	-	OMIM:164200
2697	GJA1	HP:0010705	4-5 finger cutaneous syndactyly	-	OMIM:257850
2697	GJA1	HP:0002298	Absent hair	HP:0040283	ORPHA:1010
2697	GJA1	HP:0002299	Brittle hair	2/2	OMIM:104100
2697	GJA1	HP:0002299	Brittle hair	HP:0040283	ORPHA:2710
2697	GJA1	HP:0010628	Facial palsy	HP:0040283	ORPHA:1522
2697	GJA1	HP:0010628	Facial palsy	-	OMIM:218400
2697	GJA1	HP:0003510	Severe short stature	7/7	OMIM:615777
2697	GJA1	HP:0001058	Poor wound healing	HP:0040283	ORPHA:1010
2697	GJA1	HP:0002385	Paraparesis	-	OMIM:164200
2697	GJA1	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:317
2697	GJA1	HP:0001041	Facial erythema	HP:0040283	ORPHA:1010
2697	GJA1	HP:0001004	Lymphedema	-	OMIM:153400
2697	GJA1	HP:0002315	Headache	-	OMIM:131300
2697	GJA1	HP:0004976	Knee dislocation	6/7	OMIM:615777
2697	GJA1	HP:0002313	Spastic paraparesis	HP:0040282	ORPHA:2710
2697	GJA1	HP:0025092	Epidermal acanthosis	3/3	OMIM:617525
2697	GJA1	HP:0100658	Cellulitis	2/6	OMIM:153400
2697	GJA1	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	HP:0040282	ORPHA:2710
2697	GJA1	HP:0009804	Tooth agenesis	HP:0040281	ORPHA:2710
2697	GJA1	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:2248
2697	GJA1	HP:0009803	Short phalanx of finger	-	OMIM:615777
2697	GJA1	HP:0200055	Small hand	-	OMIM:257850
2697	GJA1	HP:0008499	High hypermetropia	HP:0040282	ORPHA:2710
2697	GJA1	HP:0010783	Erythema	HP:0040281	ORPHA:317
2697	GJA1	HP:0010783	Erythema	3/3	OMIM:617525
2697	GJA1	HP:0032152	Keratosis pilaris	2/2	OMIM:104100
2697	GJA1	HP:0032152	Keratosis pilaris	HP:0040282	ORPHA:1010
2697	GJA1	HP:0010761	Broad columella	HP:0040281	ORPHA:2710
2697	GJA1	HP:0008442	Vertebral hyperostosis	-	OMIM:164200
2697	GJA1	HP:0009772	Patchy sclerosis of finger phalanx	-	OMIM:218400
2697	GJA1	HP:0009779	3-4 toe syndactyly	-	OMIM:164200
2697	GJA1	HP:0009763	Limb pain	63/92	OMIM:131300
2697	GJA1	HP:0009765	Low hanging columella	-	OMIM:164200
2697	GJA1	HP:0003621	Juvenile onset	-	OMIM:131300
2697	GJA1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2697	GJA1	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:2710
2697	GJA1	HP:0006801	Hyperactive deep tendon reflexes	-	OMIM:164200
2697	GJA1	HP:0005588	Patchy palmoplantar hyperkeratosis	HP:0040282	ORPHA:317
2697	GJA1	HP:0004220	Short middle phalanx of the 5th finger	-	OMIM:164200
2697	GJA1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2697	GJA1	HP:0000639	Nystagmus	HP:0040283	ORPHA:2710
2697	GJA1	HP:6001056	Out-toeing	-	OMIM:131300
2697	GJA1	HP:0000651	Diplopia	-	OMIM:131300
2697	GJA1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:2710
2697	GJA1	HP:0000648	Optic atrophy	-	OMIM:218400
2697	GJA1	HP:0000613	Photophobia	10/49	OMIM:153400
2697	GJA1	HP:0000613	Photophobia	HP:0040284	ORPHA:1010
2697	GJA1	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:2710
2697	GJA1	HP:0001956	Truncal obesity	2/7	OMIM:615777
2697	GJA1	HP:0000601	Hypotelorism	HP:0040282	ORPHA:2710
2697	GJA1	HP:0001903	Anemia	HP:0040283	OMIM:131300
2697	GJA1	HP:0010049	Short metacarpal	-	OMIM:615777
2697	GJA1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
2697	GJA1	HP:0011359	Dry hair	2/8	OMIM:164200
2697	GJA1	HP:0000696	Delayed eruption of permanent teeth	-	OMIM:218400
2697	GJA1	HP:0000682	Abnormal dental enamel morphology	HP:0040281	ORPHA:2710
2697	GJA1	HP:0000684	Delayed eruption of teeth	2/2	OMIM:257850
2697	GJA1	HP:0011342	Mild global developmental delay	HP:0040282	ORPHA:2710
2697	GJA1	HP:0011342	Mild global developmental delay	-	OMIM:257850
2697	GJA1	HP:0000679	Taurodontia	HP:0040283	ORPHA:2710
2697	GJA1	HP:0000679	Taurodontia	HP:0040283	OMIM:164200
2697	GJA1	HP:0000678	Dental crowding	-	OMIM:615777
2697	GJA1	HP:0000678	Dental crowding	-	OMIM:257850
2697	GJA1	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:257850
2697	GJA1	HP:0000691	Microdontia	-	OMIM:164200
2697	GJA1	HP:0000689	Dental malocclusion	-	OMIM:257850
2697	GJA1	HP:0000685	Hypoplasia of teeth	-	OMIM:257850
2697	GJA1	HP:0000656	Ectropion	2/43	OMIM:153400
2697	GJA1	HP:0000653	Sparse eyelashes	-	OMIM:257850
2697	GJA1	HP:0000653	Sparse eyelashes	HP:0040281	ORPHA:1010
2697	GJA1	HP:0000670	Carious teeth	-	OMIM:131300
2697	GJA1	HP:0000670	Carious teeth	HP:0040281	ORPHA:2710
2697	GJA1	HP:0000670	Carious teeth	-	OMIM:164200
2697	GJA1	HP:0011304	Broad thumb	2/7	OMIM:615777
2697	GJA1	HP:0000668	Hypodontia	-	OMIM:615777
2697	GJA1	HP:0000664	Synophrys	-	OMIM:615777
2697	GJA1	HP:0004322	Short stature	HP:0040281	ORPHA:317
2697	GJA1	HP:0004322	Short stature	-	OMIM:257850
2697	GJA1	HP:0005622	Broad long bones	-	OMIM:257850
2697	GJA1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2710
2697	GJA1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:317
2697	GJA1	HP:0004383	Hypoplastic left heart	HP:0040281	ORPHA:2248
2697	GJA1	HP:0003067	Madelung deformity	HP:0040283	ORPHA:2710
2697	GJA1	HP:0004396	Poor appetite	-	OMIM:131300
2697	GJA1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2697	GJA1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2697	GJA1	HP:0003015	Flared metaphysis	-	OMIM:218400
2697	GJA1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2697	GJA1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
2697	GJA1	HP:0003026	Short long bone	7/7	OMIM:615777
2697	GJA1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2697	GJA1	HP:0012745	Short palpebral fissure	-	OMIM:164200
2697	GJA1	HP:0012745	Short palpebral fissure	-	OMIM:257850
2697	GJA1	HP:0012733	Macule	HP:0040281	ORPHA:317
2697	GJA1	HP:0100018	Nuclear cataract	HP:0040283	ORPHA:1010
2697	GJA1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2697	GJA1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2697	GJA1	HP:0000765	Abnormal thorax morphology	-	OMIM:218400
2697	GJA1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2697	GJA1	HP:0000750	Delayed speech and language development	1/2	OMIM:257850
2697	GJA1	HP:0000750	Delayed speech and language development	-	OMIM:615777
2697	GJA1	HP:0009183	Joint contracture of the 5th finger	15/18	OMIM:164200
2697	GJA1	HP:0009162	Absent middle phalanx of 5th finger	-	OMIM:186100
2697	GJA1	HP:0012785	Flexion contracture of finger	HP:0040282	ORPHA:1010
2697	GJA1	HP:0011461	Fetal onset	7/7	OMIM:615777
2697	GJA1	HP:0010109	Short hallux	HP:0040283	ORPHA:2710
2697	GJA1	HP:0000774	Narrow chest	2/7	OMIM:615777
2697	GJA1	HP:0005769	Fifth finger distal phalanx clinodactyly	-	OMIM:257850
2697	GJA1	HP:0004437	Cranial hyperostosis	HP:0040282	ORPHA:2710
2697	GJA1	HP:0005768	2-4 toe cutaneous syndactyly	-	OMIM:257850
2697	GJA1	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2710
2697	GJA1	HP:0004407	Bony paranasal bossing	-	OMIM:218400
2697	GJA1	HP:0003196	Short nose	HP:0040282	ORPHA:2710
2697	GJA1	HP:0003196	Short nose	4/8	OMIM:164200
2697	GJA1	HP:0000926	Platyspondyly	1/7	OMIM:615777
2697	GJA1	HP:0003189	Long nose	-	OMIM:257850
2697	GJA1	HP:0003180	Flat acetabular roof	-	OMIM:615777
2697	GJA1	HP:0004482	Relative macrocephaly	-	OMIM:615777
2697	GJA1	HP:0004493	Craniofacial hyperostosis	HP:0040281	ORPHA:1522
2697	GJA1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2697	GJA1	HP:0000889	Abnormal clavicle morphology	HP:0040283	ORPHA:2710
2697	GJA1	HP:0100335	Non-midline cleft of the upper lip	HP:0040283	ORPHA:2710
2697	GJA1	HP:0012804	Corneal ulceration	-	OMIM:153400
2697	GJA1	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:317
2697	GJA1	HP:0000823	Delayed puberty	-	OMIM:131300
2697	GJA1	HP:0011560	Mitral atresia	HP:0040283	ORPHA:2248
2697	GJA1	HP:0000894	Short clavicles	-	OMIM:615777
2697	GJA1	HP:0009237	Short 5th finger	-	OMIM:186100
2697	GJA1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2697	GJA1	HP:0004528	Generalized hypotrichosis	HP:0040282	ORPHA:1010
2697	GJA1	HP:0045075	Sparse eyebrow	1/1	OMIM:104100
2697	GJA1	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:1010
2697	GJA1	HP:0100255	Metaphyseal dysplasia	-	OMIM:218400
2697	GJA1	HP:0010310	Chylothorax	1/6	OMIM:153400
2697	GJA1	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:317
2697	GJA1	HP:0000988	Skin rash	HP:0040281	ORPHA:317
2697	GJA1	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:2710
2697	GJA1	HP:0000982	Palmoplantar keratoderma	2/2	OMIM:104100
2697	GJA1	HP:0000982	Palmoplantar keratoderma	3/3	OMIM:617525
2697	GJA1	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:1010
2697	GJA1	HP:0000958	Dry skin	HP:0040282	ORPHA:1010
2697	GJA1	HP:0000958	Dry skin	HP:0040282	ORPHA:317
2697	GJA1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2697	GJA1	HP:0000953	Hyperpigmentation of the skin	1/1	OMIM:104100
2697	GJA1	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:317
2697	GJA1	HP:0000962	Hyperkeratosis	2/2	OMIM:104100
2697	GJA1	HP:0000962	Hyperkeratosis	3/3	OMIM:617525
2697	GJA1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1522
2697	GJA1	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:2710
2697	GJA1	HP:0000940	Abnormal diaphysis morphology	HP:0040283	ORPHA:2710
2697	GJA1	HP:0040162	Orthokeratosis	3/3	OMIM:617525
2697	GJA1	HP:0008070	Sparse hair	HP:0040282	ORPHA:2710
2697	GJA1	HP:0008070	Sparse hair	-	OMIM:164200
2697	GJA1	HP:0008070	Sparse hair	1/2	OMIM:257850
2697	GJA1	HP:0008070	Sparse hair	1/1	OMIM:104100
2697	GJA1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:317
2697	GJA1	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:317
2697	GJA1	HP:0040189	Scaling skin	HP:0040283	ORPHA:1010
2697	GJA1	HP:0011675	Arrhythmia	HP:0040283	ORPHA:2710
2697	GJA1	HP:0011675	Arrhythmia	HP:0040283	OMIM:164200
2697	GJA1	HP:0011675	Arrhythmia	-	OMIM:153400
2697	GJA1	HP:0000286	Epicanthus	HP:0040283	ORPHA:2710
2697	GJA1	HP:0000286	Epicanthus	-	OMIM:164200
2697	GJA1	HP:0000286	Epicanthus	-	OMIM:257850
2697	GJA1	HP:0000286	Epicanthus	1/7	OMIM:615777
2697	GJA1	HP:0000280	Coarse facial features	-	OMIM:218400
2697	GJA1	HP:0000280	Coarse facial features	2/7	OMIM:615777
2697	GJA1	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:317
2697	GJA1	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:2710
2697	GJA1	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:1010
2697	GJA1	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:317
2697	GJA1	HP:0001596	Alopecia	HP:0040282	ORPHA:317
2697	GJA1	HP:0001596	Alopecia	2/2	OMIM:104100
2697	GJA1	HP:0001592	Selective tooth agenesis	-	OMIM:164200
2697	GJA1	HP:0000256	Macrocephaly	-	OMIM:218400
2697	GJA1	HP:0002827	Hip dislocation	-	OMIM:164200
2697	GJA1	HP:0002827	Hip dislocation	3/7	OMIM:615777
2697	GJA1	HP:0030084	Clinodactyly	HP:0040282	ORPHA:2710
2697	GJA1	HP:0030084	Clinodactyly	-	OMIM:164200
2697	GJA1	HP:0002808	Kyphosis	2/5	OMIM:153400
2697	GJA1	HP:0006384	Club-shaped distal femur	-	OMIM:218400
2697	GJA1	HP:0000239	Large fontanelles	2/2	OMIM:257850
2697	GJA1	HP:0000252	Microcephaly	HP:0040281	ORPHA:317
2697	GJA1	HP:0000252	Microcephaly	-	OMIM:164200
2697	GJA1	HP:0000252	Microcephaly	-	OMIM:615777
2697	GJA1	HP:0000248	Brachycephaly	-	OMIM:257850
2697	GJA1	HP:0000218	High palate	4/8	OMIM:164200
2697	GJA1	HP:0000233	Thin vermilion border	-	OMIM:257850
2697	GJA1	HP:0002857	Genu valgum	-	OMIM:131300
2697	GJA1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2710
2697	GJA1	HP:0001533	Slender build	-	OMIM:131300
2697	GJA1	HP:0000204	Cleft upper lip	-	OMIM:164200
2697	GJA1	HP:0000204	Cleft upper lip	-	OMIM:153400
2697	GJA1	HP:0001508	Failure to thrive	1/2	OMIM:257850
2697	GJA1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2697	GJA1	HP:0007807	Optic nerve compression	-	OMIM:131300
2697	GJA1	HP:0012368	Flat face	7/7	OMIM:615777
2697	GJA1	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:2710
2697	GJA1	HP:0000377	Abnormal pinna morphology	HP:0040283	OMIM:164200
2697	GJA1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2697	GJA1	HP:0002916	Abnormality of chromosome segregation	HP:0040283	ORPHA:2248
2697	GJA1	HP:0006480	Premature loss of teeth	-	OMIM:164200
2697	GJA1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2710
2697	GJA1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:317
2697	GJA1	HP:0000365	Hearing impairment	10/67	OMIM:131300
2697	GJA1	HP:0000366	Abnormality of the nose	HP:0040281	ORPHA:2710
2697	GJA1	HP:0000369	Low-set ears	-	OMIM:257850
2697	GJA1	HP:0000343	Long philtrum	-	OMIM:257850
2697	GJA1	HP:0000343	Long philtrum	1/7	OMIM:615777
2697	GJA1	HP:0011002	Osteopetrosis	HP:0040281	ORPHA:1522
2697	GJA1	HP:0011001	Increased bone mineral density	-	OMIM:131300
2697	GJA1	HP:0000348	High forehead	HP:0040282	ORPHA:2710
2697	GJA1	HP:0000347	Micrognathia	HP:0040283	ORPHA:2710
2697	GJA1	HP:0000347	Micrognathia	2/5	OMIM:153400
2697	GJA1	HP:0000347	Micrognathia	2/2	OMIM:257850
2697	GJA1	HP:0012304	Hypoplastic aortic arch	HP:0040282	ORPHA:2248
2697	GJA1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2710
2697	GJA1	HP:0000316	Hypertelorism	5/5	OMIM:218400
2697	GJA1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1522
2697	GJA1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:2248
2697	GJA1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
2697	GJA1	HP:0000311	Round face	2/7	OMIM:615777
2697	GJA1	HP:0000327	Hypoplasia of the maxilla	-	OMIM:257850
2697	GJA1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:2710
2697	GJA1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
2697	GJA1	HP:0002970	Genu varum	-	OMIM:615777
2697	GJA1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
2697	GJA1	HP:0002967	Cubitus valgus	-	OMIM:164200
2697	GJA1	HP:0001631	Atrial septal defect	HP:0040283	OMIM:164200
2697	GJA1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:2248
2697	GJA1	HP:0000303	Mandibular prognathia	-	OMIM:131300
2697	GJA1	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:2710
2697	GJA1	HP:0000303	Mandibular prognathia	-	OMIM:218400
2697	GJA1	HP:0007957	Corneal opacity	HP:0040283	ORPHA:317
2697	GJA1	HP:0001739	Abnormal nasopharynx morphology	-	OMIM:218400
2697	GJA1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:1522
2697	GJA1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:1522
2697	GJA1	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:2710
2697	GJA1	HP:0000405	Conductive hearing impairment	-	OMIM:164200
2697	GJA1	HP:0001718	Mitral stenosis	HP:0040283	ORPHA:2248
2697	GJA1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:1522
2697	GJA1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2697	GJA1	HP:0000486	Strabismus	HP:0040283	ORPHA:2710
2697	GJA1	HP:0000482	Microcornea	HP:0040281	ORPHA:2710
2697	GJA1	HP:0000482	Microcornea	-	OMIM:164200
2697	GJA1	HP:0000482	Microcornea	-	OMIM:257850
2697	GJA1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
2697	GJA1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:2710
2697	GJA1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
2697	GJA1	HP:0000494	Downslanted palpebral fissures	-	OMIM:257850
2697	GJA1	HP:0000490	Deeply set eye	HP:0040283	ORPHA:2710
2697	GJA1	HP:0000490	Deeply set eye	1/2	OMIM:257850
2697	GJA1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2710
2697	GJA1	HP:0000463	Anteverted nares	-	OMIM:164200
2697	GJA1	HP:0000460	Narrow nose	-	OMIM:164200
2697	GJA1	HP:0000460	Narrow nose	-	OMIM:257850
2697	GJA1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
2697	GJA1	HP:0000457	Depressed nasal ridge	5/5	OMIM:218400
2697	GJA1	HP:0000470	Short neck	1/7	OMIM:615777
2697	GJA1	HP:0000465	Webbed neck	6/43	OMIM:153400
2697	GJA1	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:2710
2697	GJA1	HP:0001770	Toe syndactyly	0/9	OMIM:186100
2697	GJA1	HP:0001773	Short foot	-	OMIM:257850
2697	GJA1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2697	GJA1	HP:0001763	Pes planus	1/7	OMIM:615777
2697	GJA1	HP:0000446	Narrow nasal bridge	HP:0040281	ORPHA:2710
2697	GJA1	HP:0000446	Narrow nasal bridge	-	OMIM:164200
2697	GJA1	HP:0001742	Nasal congestion	-	OMIM:218400
2697	GJA1	HP:0000411	Protruding ear	HP:0040283	ORPHA:317
2697	GJA1	HP:0000410	Mixed hearing impairment	-	OMIM:218400
2697	GJA1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1522
2697	GJA1	HP:0000431	Wide nasal bridge	-	OMIM:218400
2697	GJA1	HP:0000430	Underdeveloped nasal alae	HP:0040281	ORPHA:2710
2697	GJA1	HP:0000430	Underdeveloped nasal alae	-	OMIM:164200
2697	GJA1	HP:0000430	Underdeveloped nasal alae	2/2	OMIM:257850
2697	GJA1	HP:0005465	Facial hyperostosis	5/5	OMIM:218400
2697	GJA1	HP:0000518	Cataract	HP:0040282	ORPHA:2710
2697	GJA1	HP:0000518	Cataract	HP:0040282	ORPHA:317
2697	GJA1	HP:0000518	Cataract	-	OMIM:164200
2697	GJA1	HP:0000518	Cataract	1/2	OMIM:257850
2697	GJA1	HP:0001840	Metatarsus adductus	-	OMIM:615777
2697	GJA1	HP:0000525	Abnormality iris morphology	HP:0040283	ORPHA:2710
2697	GJA1	HP:0000520	Proptosis	2/4	OMIM:131300
2697	GJA1	HP:0000520	Proptosis	7/7	OMIM:615777
2697	GJA1	HP:0001824	Weight loss	HP:0040281	ORPHA:317
2697	GJA1	HP:0001820	Leukonychia	3/3	OMIM:617525
2697	GJA1	HP:0001820	Leukonychia	2/2	OMIM:104100
2697	GJA1	HP:0000506	Telecanthus	HP:0040282	ORPHA:1522
2697	GJA1	HP:0000506	Telecanthus	-	OMIM:257850
2697	GJA1	HP:0000506	Telecanthus	-	OMIM:218400
2697	GJA1	HP:0000509	Conjunctivitis	-	OMIM:153400
2697	GJA1	HP:0000508	Ptosis	2/39	OMIM:153400
2697	GJA1	HP:0000505	Visual impairment	HP:0040283	ORPHA:1522
2697	GJA1	HP:0000505	Visual impairment	HP:0040282	ORPHA:2710
2697	GJA1	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:2710
2697	GJA1	HP:0000501	Glaucoma	HP:0040282	ORPHA:2710
2697	GJA1	HP:0000501	Glaucoma	8/8	OMIM:164200
2697	GJA1	HP:0000501	Glaucoma	HP:0040282	ORPHA:317
2697	GJA1	HP:0001831	Short toe	HP:0040283	ORPHA:93404
2697	GJA1	HP:0001808	Fragile nails	-	OMIM:164200
2697	GJA1	HP:0001807	Ridged nail	HP:0040282	ORPHA:1010
2697	GJA1	HP:0000598	Abnormality of the ear	HP:0040281	ORPHA:2710
2697	GJA1	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:2710
2697	GJA1	HP:0000581	Blepharophimosis	-	OMIM:164200
2697	GJA1	HP:0000592	Blue sclerae	2/7	OMIM:615777
2697	GJA1	HP:0000554	Uveitis	8/8	OMIM:164200
2697	GJA1	HP:0000568	Microphthalmia	8/8	OMIM:164200
2697	GJA1	HP:0000568	Microphthalmia	1/2	OMIM:257850
2697	GJA1	HP:0000568	Microphthalmia	1/6	OMIM:153400
2697	GJA1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2697	GJA1	HP:0012514	Lower limb pain	4/4	OMIM:131300
2697	GJA1	HP:0000545	Myopia	HP:0040282	ORPHA:2710
2697	GJA1	HP:0000545	Myopia	-	OMIM:257850
2700	GJA3	HP:0010920	Zonular cataract	-	OMIM:601885
2700	GJA3	HP:0000006	Autosomal dominant inheritance	-	OMIM:601885
2702	GJA5	HP:0001156	Brachydactyly	1/21	OMIM:612474
2702	GJA5	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3303
2702	GJA5	HP:0009942	Duplication of thumb phalanx	1/21	OMIM:612474
2702	GJA5	HP:0009921	Duane anomaly	1/21	OMIM:612474
2702	GJA5	HP:0020206	Simple ear	1/21	OMIM:612474
2702	GJA5	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:3303
2702	GJA5	HP:0009882	Short distal phalanx of finger	1/21	OMIM:612474
2702	GJA5	HP:0003745	Sporadic	-	OMIM:612474
2702	GJA5	HP:0001279	Syncope	HP:0040282	ORPHA:334
2702	GJA5	HP:0001250	Seizure	5/21	OMIM:612474
2702	GJA5	HP:0001252	Hypotonia	5/21	OMIM:612474
2702	GJA5	HP:0001249	Intellectual disability	-	OMIM:612474
2702	GJA5	HP:0001263	Global developmental delay	16/21	OMIM:612474
2702	GJA5	HP:0001212	Prominent fingertip pads	1/21	OMIM:612474
2702	GJA5	HP:0002553	Highly arched eyebrow	1/21	OMIM:612474
2702	GJA5	HP:0003829	Typified by incomplete penetrance	-	OMIM:612474
2702	GJA5	HP:0001382	Joint hypermobility	5/42	OMIM:612474
2702	GJA5	HP:0025313	Exophoria	1/21	OMIM:612474
2702	GJA5	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3303
2702	GJA5	HP:0001337	Tremor	1/21	OMIM:612474
2702	GJA5	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
2702	GJA5	HP:0000006	Autosomal dominant inheritance	-	OMIM:108770
2702	GJA5	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
2702	GJA5	HP:0000006	Autosomal dominant inheritance	-	OMIM:612474
2702	GJA5	HP:0000006	Autosomal dominant inheritance	-	OMIM:614049
2702	GJA5	HP:0002650	Scoliosis	1/21	OMIM:612474
2702	GJA5	HP:0025493	Palmoplantar erythema	1/21	OMIM:612474
2702	GJA5	HP:0000179	Thick lower lip vermilion	2/21	OMIM:612474
2702	GJA5	HP:0025478	Atrial standstill	1/1	OMIM:108770
2702	GJA5	HP:0000193	Bifid uvula	1/21	OMIM:612474
2702	GJA5	HP:0008936	Axial hypotonia	1/21	OMIM:612474
2702	GJA5	HP:0002007	Frontal bossing	-	OMIM:612474
2702	GJA5	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
2702	GJA5	HP:0002069	Bilateral tonic-clonic seizure	1/21	OMIM:612474
2702	GJA5	HP:0011705	First degree atrioventricular block	-	OMIM:108770
2702	GJA5	HP:0002121	Generalized non-motor (absence) seizure	1/21	OMIM:612474
2702	GJA5	HP:0004757	Paroxysmal atrial fibrillation	1/1	OMIM:108770
2702	GJA5	HP:0003596	Middle age onset	3/3	OMIM:614049
2702	GJA5	HP:0100716	Self-injurious behavior	1/21	OMIM:612474
2702	GJA5	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
2702	GJA5	HP:0200127	Atrial cardiomyopathy	-	OMIM:108770
2702	GJA5	HP:0100749	Chest pain	HP:0040282	ORPHA:334
2702	GJA5	HP:0002292	Frontal balding	1/21	OMIM:612474
2702	GJA5	HP:0100753	Schizophrenia	-	OMIM:612474
2702	GJA5	HP:0020045	Esodeviation	1/21	OMIM:612474
2702	GJA5	HP:0010698	Nuclear pulverulent cataract	1/21	OMIM:612474
2702	GJA5	HP:0010695	Sutural cataract	1/21	OMIM:612474
2702	GJA5	HP:0002321	Vertigo	HP:0040282	ORPHA:334
2702	GJA5	HP:0009765	Low hanging columella	2/21	OMIM:612474
2702	GJA5	HP:0004970	Ascending tubular aorta aneurysm	1/21	OMIM:612474
2702	GJA5	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
2702	GJA5	HP:0004209	Clinodactyly of the 5th finger	2/21	OMIM:612474
2702	GJA5	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:3303
2702	GJA5	HP:0001962	Palpitations	HP:0040282	ORPHA:334
2702	GJA5	HP:0001956	Truncal obesity	1/21	OMIM:612474
2702	GJA5	HP:0000601	Hypotelorism	1/21	OMIM:612474
2702	GJA5	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
2702	GJA5	HP:0010055	Broad hallux	1/21	OMIM:612474
2702	GJA5	HP:0012664	Reduced left ventricular ejection fraction	0/2	OMIM:614049
2702	GJA5	HP:0000691	Microdontia	1/21	OMIM:612474
2702	GJA5	HP:0000687	Widely spaced teeth	1/21	OMIM:612474
2702	GJA5	HP:0011304	Broad thumb	1/21	OMIM:612474
2702	GJA5	HP:0000664	Synophrys	1/21	OMIM:612474
2702	GJA5	HP:0012745	Short palpebral fissure	1/21	OMIM:612474
2702	GJA5	HP:0000767	Pectus excavatum	1/21	OMIM:612474
2702	GJA5	HP:0000733	Motor stereotypy	2/21	OMIM:612474
2702	GJA5	HP:0000750	Delayed speech and language development	1/21	OMIM:612474
2702	GJA5	HP:0000717	Autism	1/21	OMIM:612474
2702	GJA5	HP:0000708	Atypical behavior	1/21	OMIM:612474
2702	GJA5	HP:0010112	Mesoaxial foot polydactyly	1/21	OMIM:612474
2702	GJA5	HP:0004467	Preauricular pit	HP:0040282	ORPHA:3303
2702	GJA5	HP:0004467	Preauricular pit	-	OMIM:187500
2702	GJA5	HP:0040053	Long lower eyelashes	1/21	OMIM:612474
2702	GJA5	HP:0034308	Prolonged P wave	1/1	OMIM:614049
2702	GJA5	HP:0011623	Muscular ventricular septal defect	1/21	OMIM:612474
2702	GJA5	HP:0000954	Single transverse palmar crease	3/21	OMIM:612474
2702	GJA5	HP:0011682	Perimembranous ventricular septal defect	1/21	OMIM:612474
2702	GJA5	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
2702	GJA5	HP:0000286	Epicanthus	2/21	OMIM:612474
2702	GJA5	HP:0000262	Turricephaly	1/21	OMIM:612474
2702	GJA5	HP:0000272	Malar flattening	1/21	OMIM:612474
2702	GJA5	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:3303
2702	GJA5	HP:0000269	Prominent occiput	1/21	OMIM:612474
2702	GJA5	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
2702	GJA5	HP:0005110	Atrial fibrillation	21/21	OMIM:614049
2702	GJA5	HP:0005105	Abnormal nasal morphology	HP:0040281	ORPHA:3303
2702	GJA5	HP:0000252	Microcephaly	14/21	OMIM:612474
2702	GJA5	HP:0000248	Brachycephaly	3/21	OMIM:612474
2702	GJA5	HP:0000219	Thin upper lip vermilion	3/21	OMIM:612474
2702	GJA5	HP:0000218	High palate	3/21	OMIM:612474
2702	GJA5	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:3303
2702	GJA5	HP:0000233	Thin vermilion border	2/21	OMIM:612474
2702	GJA5	HP:0001508	Failure to thrive	1/21	OMIM:612474
2702	GJA5	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3303
2702	GJA5	HP:0012378	Fatigue	HP:0040282	ORPHA:334
2702	GJA5	HP:0012385	Camptodactyly	1/21	OMIM:612474
2702	GJA5	HP:0005155	Ventricular escape rhythm	1/1	OMIM:108770
2702	GJA5	HP:0000369	Low-set ears	1/21	OMIM:612474
2702	GJA5	HP:0000343	Long philtrum	1/21	OMIM:612474
2702	GJA5	HP:0001669	Transposition of the great arteries	1/21	OMIM:612474
2702	GJA5	HP:0000337	Broad forehead	-	OMIM:187500
2702	GJA5	HP:0000337	Broad forehead	HP:0040281	ORPHA:3303
2702	GJA5	HP:0001664	Torsade de pointes	1/46	OMIM:115000
2702	GJA5	HP:0001680	Coarctation of aorta	1/21	OMIM:612474
2702	GJA5	HP:0000347	Micrognathia	4/21	OMIM:612474
2702	GJA5	HP:0000319	Smooth philtrum	1/21	OMIM:612474
2702	GJA5	HP:0001647	Bicuspid aortic valve	1/21	OMIM:612474
2702	GJA5	HP:0000316	Hypertelorism	1/21	OMIM:612474
2702	GJA5	HP:0001643	Patent ductus arteriosus	2/21	OMIM:612474
2702	GJA5	HP:0000311	Round face	1/21	OMIM:612474
2702	GJA5	HP:0001645	Sudden cardiac death	-	OMIM:115000
2702	GJA5	HP:0001660	Truncus arteriosus	1/21	OMIM:612474
2702	GJA5	HP:0001663	Ventricular fibrillation	-	OMIM:115000
2702	GJA5	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
2702	GJA5	HP:0001659	Aortic regurgitation	1/21	OMIM:612474
2702	GJA5	HP:0000325	Triangular face	1/21	OMIM:612474
2702	GJA5	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:3303
2702	GJA5	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
2702	GJA5	HP:0000307	Pointed chin	1/21	OMIM:612474
2702	GJA5	HP:0001631	Atrial septal defect	1/21	OMIM:612474
2702	GJA5	HP:0000303	Mandibular prognathia	1/21	OMIM:612474
2702	GJA5	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
2702	GJA5	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
2702	GJA5	HP:0006699	Premature atrial contractions	-	OMIM:108770
2702	GJA5	HP:0006677	Prolonged QRS complex	1/3	OMIM:614049
2702	GJA5	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
2702	GJA5	HP:0000407	Sensorineural hearing impairment	1/21	OMIM:612474
2702	GJA5	HP:0001706	Endocardial fibroelastosis	-	OMIM:108770
2702	GJA5	HP:0005280	Depressed nasal bridge	5/21	OMIM:612474
2702	GJA5	HP:0000486	Strabismus	2/21	OMIM:612474
2702	GJA5	HP:0000490	Deeply set eye	2/21	OMIM:612474
2702	GJA5	HP:0000463	Anteverted nares	1/21	OMIM:612474
2702	GJA5	HP:0000470	Short neck	2/21	OMIM:612474
2702	GJA5	HP:0001763	Pes planus	1/21	OMIM:612474
2702	GJA5	HP:0000448	Prominent nose	1/21	OMIM:612474
2702	GJA5	HP:0000414	Bulbous nose	-	OMIM:612474
2702	GJA5	HP:0000411	Protruding ear	1/21	OMIM:612474
2702	GJA5	HP:0000426	Prominent nasal bridge	3/21	OMIM:612474
2702	GJA5	HP:0005487	Prominent metopic ridge	1/21	OMIM:612474
2702	GJA5	HP:0000518	Cataract	3/21	OMIM:612474
2702	GJA5	HP:0001845	Overlapping toe	1/21	OMIM:612474
2702	GJA5	HP:0000520	Proptosis	-	OMIM:187500
2702	GJA5	HP:0000520	Proptosis	HP:0040282	ORPHA:3303
2702	GJA5	HP:0000582	Upslanted palpebral fissure	2/21	OMIM:612474
2702	GJA5	HP:0011220	Prominent forehead	1/21	OMIM:612474
2702	GJA5	HP:0000568	Microphthalmia	1/21	OMIM:612474
2702	GJA5	HP:0000540	Hypermetropia	2/21	OMIM:612474
2702	GJA5	HP:0001883	Talipes	1/21	OMIM:612474
2703	GJA8	HP:0001156	Brachydactyly	1/21	OMIM:612474
2703	GJA8	HP:0001131	Corneal dystrophy	HP:0040283	ORPHA:1377
2703	GJA8	HP:0009942	Duplication of thumb phalanx	1/21	OMIM:612474
2703	GJA8	HP:0009921	Duane anomaly	1/21	OMIM:612474
2703	GJA8	HP:0020206	Simple ear	1/21	OMIM:612474
2703	GJA8	HP:0009882	Short distal phalanx of finger	1/21	OMIM:612474
2703	GJA8	HP:0003745	Sporadic	-	OMIM:612474
2703	GJA8	HP:0001250	Seizure	5/21	OMIM:612474
2703	GJA8	HP:0001252	Hypotonia	5/21	OMIM:612474
2703	GJA8	HP:0001249	Intellectual disability	-	OMIM:612474
2703	GJA8	HP:0001263	Global developmental delay	16/21	OMIM:612474
2703	GJA8	HP:0001212	Prominent fingertip pads	1/21	OMIM:612474
2703	GJA8	HP:0002553	Highly arched eyebrow	1/21	OMIM:612474
2703	GJA8	HP:0003829	Typified by incomplete penetrance	-	OMIM:612474
2703	GJA8	HP:0001382	Joint hypermobility	5/42	OMIM:612474
2703	GJA8	HP:0025313	Exophoria	1/21	OMIM:612474
2703	GJA8	HP:0001337	Tremor	1/21	OMIM:612474
2703	GJA8	HP:0000006	Autosomal dominant inheritance	-	OMIM:116200
2703	GJA8	HP:0000006	Autosomal dominant inheritance	-	OMIM:612474
2703	GJA8	HP:0002650	Scoliosis	1/21	OMIM:612474
2703	GJA8	HP:0025493	Palmoplantar erythema	1/21	OMIM:612474
2703	GJA8	HP:0000179	Thick lower lip vermilion	2/21	OMIM:612474
2703	GJA8	HP:0000193	Bifid uvula	1/21	OMIM:612474
2703	GJA8	HP:0008936	Axial hypotonia	1/21	OMIM:612474
2703	GJA8	HP:0002007	Frontal bossing	-	OMIM:612474
2703	GJA8	HP:0002069	Bilateral tonic-clonic seizure	1/21	OMIM:612474
2703	GJA8	HP:0002121	Generalized non-motor (absence) seizure	1/21	OMIM:612474
2703	GJA8	HP:0003577	Congenital onset	10/10	OMIM:116200
2703	GJA8	HP:0100716	Self-injurious behavior	1/21	OMIM:612474
2703	GJA8	HP:0002292	Frontal balding	1/21	OMIM:612474
2703	GJA8	HP:0100753	Schizophrenia	-	OMIM:612474
2703	GJA8	HP:0010693	Pulverulent cataract	10/10	OMIM:116200
2703	GJA8	HP:0020045	Esodeviation	1/21	OMIM:612474
2703	GJA8	HP:0010698	Nuclear pulverulent cataract	1/21	OMIM:612474
2703	GJA8	HP:0010695	Sutural cataract	1/21	OMIM:612474
2703	GJA8	HP:0009765	Low hanging columella	2/21	OMIM:612474
2703	GJA8	HP:0004970	Ascending tubular aorta aneurysm	1/21	OMIM:612474
2703	GJA8	HP:0004209	Clinodactyly of the 5th finger	2/21	OMIM:612474
2703	GJA8	HP:0000639	Nystagmus	HP:0040283	ORPHA:1377
2703	GJA8	HP:0000612	Iris coloboma	HP:0040283	ORPHA:1377
2703	GJA8	HP:0001956	Truncal obesity	1/21	OMIM:612474
2703	GJA8	HP:0000601	Hypotelorism	1/21	OMIM:612474
2703	GJA8	HP:0010055	Broad hallux	1/21	OMIM:612474
2703	GJA8	HP:0000691	Microdontia	1/21	OMIM:612474
2703	GJA8	HP:0000687	Widely spaced teeth	1/21	OMIM:612474
2703	GJA8	HP:0011304	Broad thumb	1/21	OMIM:612474
2703	GJA8	HP:0000664	Synophrys	1/21	OMIM:612474
2703	GJA8	HP:0012745	Short palpebral fissure	1/21	OMIM:612474
2703	GJA8	HP:0100018	Nuclear cataract	10/10	OMIM:116200
2703	GJA8	HP:0000767	Pectus excavatum	1/21	OMIM:612474
2703	GJA8	HP:0000733	Motor stereotypy	2/21	OMIM:612474
2703	GJA8	HP:0000750	Delayed speech and language development	1/21	OMIM:612474
2703	GJA8	HP:0000717	Autism	1/21	OMIM:612474
2703	GJA8	HP:0000708	Atypical behavior	1/21	OMIM:612474
2703	GJA8	HP:0010112	Mesoaxial foot polydactyly	1/21	OMIM:612474
2703	GJA8	HP:0040053	Long lower eyelashes	1/21	OMIM:612474
2703	GJA8	HP:0011623	Muscular ventricular septal defect	1/21	OMIM:612474
2703	GJA8	HP:0000954	Single transverse palmar crease	3/21	OMIM:612474
2703	GJA8	HP:0011682	Perimembranous ventricular septal defect	1/21	OMIM:612474
2703	GJA8	HP:0000286	Epicanthus	2/21	OMIM:612474
2703	GJA8	HP:0000262	Turricephaly	1/21	OMIM:612474
2703	GJA8	HP:0000272	Malar flattening	1/21	OMIM:612474
2703	GJA8	HP:0000269	Prominent occiput	1/21	OMIM:612474
2703	GJA8	HP:0007787	Posterior subcapsular cataract	-	OMIM:116200
2703	GJA8	HP:0000252	Microcephaly	14/21	OMIM:612474
2703	GJA8	HP:0000248	Brachycephaly	3/21	OMIM:612474
2703	GJA8	HP:0000219	Thin upper lip vermilion	3/21	OMIM:612474
2703	GJA8	HP:0000218	High palate	3/21	OMIM:612474
2703	GJA8	HP:0000233	Thin vermilion border	2/21	OMIM:612474
2703	GJA8	HP:0001508	Failure to thrive	1/21	OMIM:612474
2703	GJA8	HP:0012385	Camptodactyly	1/21	OMIM:612474
2703	GJA8	HP:0000369	Low-set ears	1/21	OMIM:612474
2703	GJA8	HP:0000343	Long philtrum	1/21	OMIM:612474
2703	GJA8	HP:0001669	Transposition of the great arteries	1/21	OMIM:612474
2703	GJA8	HP:0001680	Coarctation of aorta	1/21	OMIM:612474
2703	GJA8	HP:0000347	Micrognathia	4/21	OMIM:612474
2703	GJA8	HP:0000319	Smooth philtrum	1/21	OMIM:612474
2703	GJA8	HP:0001647	Bicuspid aortic valve	1/21	OMIM:612474
2703	GJA8	HP:0000316	Hypertelorism	1/21	OMIM:612474
2703	GJA8	HP:0001643	Patent ductus arteriosus	2/21	OMIM:612474
2703	GJA8	HP:0000311	Round face	1/21	OMIM:612474
2703	GJA8	HP:0001660	Truncus arteriosus	1/21	OMIM:612474
2703	GJA8	HP:0001659	Aortic regurgitation	1/21	OMIM:612474
2703	GJA8	HP:0000325	Triangular face	1/21	OMIM:612474
2703	GJA8	HP:0000307	Pointed chin	1/21	OMIM:612474
2703	GJA8	HP:0001631	Atrial septal defect	1/21	OMIM:612474
2703	GJA8	HP:0000303	Mandibular prognathia	1/21	OMIM:612474
2703	GJA8	HP:0007957	Corneal opacity	HP:0040283	ORPHA:1377
2703	GJA8	HP:0000407	Sensorineural hearing impairment	1/21	OMIM:612474
2703	GJA8	HP:0005280	Depressed nasal bridge	5/21	OMIM:612474
2703	GJA8	HP:0000486	Strabismus	2/21	OMIM:612474
2703	GJA8	HP:0000482	Microcornea	HP:0040283	OMIM:116200
2703	GJA8	HP:0000482	Microcornea	HP:0040281	ORPHA:1377
2703	GJA8	HP:0000490	Deeply set eye	2/21	OMIM:612474
2703	GJA8	HP:0000463	Anteverted nares	1/21	OMIM:612474
2703	GJA8	HP:0000470	Short neck	2/21	OMIM:612474
2703	GJA8	HP:0001763	Pes planus	1/21	OMIM:612474
2703	GJA8	HP:0000448	Prominent nose	1/21	OMIM:612474
2703	GJA8	HP:0000414	Bulbous nose	-	OMIM:612474
2703	GJA8	HP:0000411	Protruding ear	1/21	OMIM:612474
2703	GJA8	HP:0000426	Prominent nasal bridge	3/21	OMIM:612474
2703	GJA8	HP:0005487	Prominent metopic ridge	1/21	OMIM:612474
2703	GJA8	HP:0000518	Cataract	3/21	OMIM:612474
2703	GJA8	HP:0000518	Cataract	HP:0040281	ORPHA:1377
2703	GJA8	HP:0001845	Overlapping toe	1/21	OMIM:612474
2703	GJA8	HP:0000582	Upslanted palpebral fissure	2/21	OMIM:612474
2703	GJA8	HP:0011220	Prominent forehead	1/21	OMIM:612474
2703	GJA8	HP:0000568	Microphthalmia	1/21	OMIM:612474
2703	GJA8	HP:0000540	Hypermetropia	2/21	OMIM:612474
2703	GJA8	HP:0001883	Talipes	1/21	OMIM:612474
2703	GJA8	HP:0000545	Myopia	HP:0040282	ORPHA:1377
2705	GJB1	HP:0001152	Saccadic smooth pursuit	HP:0040282	ORPHA:1175
2705	GJB1	HP:0002463	Language impairment	HP:0040283	ORPHA:101075
2705	GJB1	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:1175
2705	GJB1	HP:0002460	Distal muscle weakness	20/20	OMIM:302800
2705	GJB1	HP:0007328	Impaired pain sensation	HP:0040282	ORPHA:101075
2705	GJB1	HP:0007240	Progressive gait ataxia	HP:0040282	ORPHA:1175
2705	GJB1	HP:0002427	Expressive aphasia	-	OMIM:302800
2705	GJB1	HP:0001272	Cerebellar atrophy	HP:0040283	OMIM:302800
2705	GJB1	HP:0001270	Motor delay	3/8	OMIM:302800
2705	GJB1	HP:0001270	Motor delay	HP:0040282	ORPHA:1175
2705	GJB1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:101075
2705	GJB1	HP:0001288	Gait disturbance	16/18	OMIM:302800
2705	GJB1	HP:0001284	Areflexia	HP:0040281	ORPHA:101075
2705	GJB1	HP:0001251	Ataxia	HP:0040283	ORPHA:101075
2705	GJB1	HP:0001265	Hyporeflexia	-	OMIM:302800
2705	GJB1	HP:0001260	Dysarthria	HP:0040283	ORPHA:101075
2705	GJB1	HP:0001260	Dysarthria	-	OMIM:302800
2705	GJB1	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:101075
2705	GJB1	HP:0003829	Typified by incomplete penetrance	-	OMIM:302800
2705	GJB1	HP:0002503	Spinocerebellar tract degeneration	HP:0040282	ORPHA:1175
2705	GJB1	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:302800
2705	GJB1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1175
2705	GJB1	HP:0001337	Tremor	HP:0040283	ORPHA:101075
2705	GJB1	HP:0001337	Tremor	-	OMIM:302800
2705	GJB1	HP:0001310	Dysmetria	HP:0040282	ORPHA:1175
2705	GJB1	HP:0001310	Dysmetria	HP:0040283	OMIM:302800
2705	GJB1	HP:0002650	Scoliosis	HP:0040283	ORPHA:101075
2705	GJB1	HP:0002650	Scoliosis	HP:0040282	ORPHA:1175
2705	GJB1	HP:0008944	Distal lower limb amyotrophy	HP:0040281	ORPHA:101075
2705	GJB1	HP:0008944	Distal lower limb amyotrophy	4/8	OMIM:302800
2705	GJB1	HP:0008944	Distal lower limb amyotrophy	HP:0040282	ORPHA:1175
2705	GJB1	HP:0001423	X-linked dominant inheritance	-	OMIM:302800
2705	GJB1	HP:0002015	Dysphagia	-	OMIM:302800
2705	GJB1	HP:0002080	Intention tremor	HP:0040282	ORPHA:1175
2705	GJB1	HP:0002075	Dysdiadochokinesis	HP:0040282	ORPHA:1175
2705	GJB1	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:1175
2705	GJB1	HP:0002070	Limb ataxia	HP:0040282	ORPHA:1175
2705	GJB1	HP:0003383	Onion bulb formation	2/2	OMIM:302800
2705	GJB1	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2/2	OMIM:302800
2705	GJB1	HP:0003487	Babinski sign	HP:0040283	OMIM:302800
2705	GJB1	HP:0003487	Babinski sign	HP:0040283	ORPHA:1175
2705	GJB1	HP:0003447	Axonal loss	HP:0040282	ORPHA:1175
2705	GJB1	HP:0003431	Decreased motor nerve conduction velocity	3/3	OMIM:302800
2705	GJB1	HP:0003445	EMG: neuropathic changes	HP:0040282	ORPHA:1175
2705	GJB1	HP:0003438	Absent Achilles reflex	7/8	OMIM:302800
2705	GJB1	HP:0200101	Decreased/absent ankle reflexes	HP:0040282	ORPHA:1175
2705	GJB1	HP:0002385	Paraparesis	-	OMIM:302800
2705	GJB1	HP:0002395	Lower limb hyperreflexia	HP:0040283	OMIM:302800
2705	GJB1	HP:0002395	Lower limb hyperreflexia	HP:0040283	ORPHA:1175
2705	GJB1	HP:0002359	Frequent falls	4/8	OMIM:302800
2705	GJB1	HP:0002359	Frequent falls	HP:0040282	ORPHA:1175
2705	GJB1	HP:0002378	Hand tremor	3/8	OMIM:302800
2705	GJB1	HP:0003677	Slowly progressive	-	OMIM:302800
2705	GJB1	HP:0002317	Unsteady gait	HP:0040282	ORPHA:1175
2705	GJB1	HP:0009830	Peripheral neuropathy	-	OMIM:302800
2705	GJB1	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:1175
2705	GJB1	HP:0007149	Distal upper limb amyotrophy	5/8	OMIM:302800
2705	GJB1	HP:0007149	Distal upper limb amyotrophy	HP:0040281	ORPHA:101075
2705	GJB1	HP:0002311	Incoordination	HP:0040283	OMIM:302800
2705	GJB1	HP:0002312	Clumsiness	HP:0040282	ORPHA:1175
2705	GJB1	HP:0006855	Cerebellar vermis atrophy	HP:0040282	ORPHA:1175
2705	GJB1	HP:0000639	Nystagmus	HP:0040283	OMIM:302800
2705	GJB1	HP:0000639	Nystagmus	HP:0040282	ORPHA:1175
2705	GJB1	HP:0009053	Distal lower limb muscle weakness	6/8	OMIM:302800
2705	GJB1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:1175
2705	GJB1	HP:0000763	Sensory neuropathy	HP:0040281	ORPHA:101075
2705	GJB1	HP:0000763	Sensory neuropathy	-	OMIM:302800
2705	GJB1	HP:0000764	Peripheral axonal degeneration	-	OMIM:302800
2705	GJB1	HP:0040129	Abnormal nerve conduction velocity	HP:0040281	ORPHA:101075
2705	GJB1	HP:0040078	Axonal degeneration	-	OMIM:302800
2705	GJB1	HP:0002808	Kyphosis	HP:0040283	ORPHA:101075
2705	GJB1	HP:0030051	Tip-toe gait	3/8	OMIM:302800
2705	GJB1	HP:0002936	Distal sensory impairment	3/7	OMIM:302800
2705	GJB1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:101075
2705	GJB1	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:302800
2705	GJB1	HP:0030237	Hand muscle weakness	2/8	OMIM:302800
2705	GJB1	HP:0001771	Achilles tendon contracture	5/8	OMIM:302800
2705	GJB1	HP:0001761	Pes cavus	HP:0040281	ORPHA:101075
2705	GJB1	HP:0001761	Pes cavus	5/8	OMIM:302800
2705	GJB1	HP:0001761	Pes cavus	HP:0040282	ORPHA:1175
2706	GJB2	HP:0001128	Trichiasis	-	OMIM:148210
2706	GJB2	HP:0003765	Psoriasiform dermatitis	HP:0040283	ORPHA:477
2706	GJB2	HP:0008625	Severe sensorineural hearing impairment	HP:0040282	ORPHA:477
2706	GJB2	HP:0100806	Sepsis	HP:0040284	ORPHA:477
2706	GJB2	HP:0100838	Recurrent cutaneous abscess formation	HP:0040284	ORPHA:477
2706	GJB2	HP:0002555	Absent pubic hair	1/1	OMIM:148210
2706	GJB2	HP:0007431	Congenital ichthyosiform erythroderma	HP:0040282	ORPHA:477
2706	GJB2	HP:0010984	Digenic inheritance	-	OMIM:220290
2706	GJB2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:494
2706	GJB2	HP:0001369	Arthritis	HP:0040283	ORPHA:477
2706	GJB2	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:477
2706	GJB2	HP:0007502	Follicular hyperkeratosis	HP:0040282	ORPHA:477
2706	GJB2	HP:0007460	Autoamputation of digits	HP:0040281	ORPHA:494
2706	GJB2	HP:0007460	Autoamputation of digits	-	OMIM:124500
2706	GJB2	HP:0007465	Honeycomb palmoplantar hyperkeratosis	45/45	OMIM:124500
2706	GJB2	HP:0007465	Honeycomb palmoplantar hyperkeratosis	HP:0040281	ORPHA:494
2706	GJB2	HP:0008788	Delayed pubic bone ossification	HP:0040284	ORPHA:477
2706	GJB2	HP:0002673	Coxa valga	HP:0040284	ORPHA:477
2706	GJB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:220290
2706	GJB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:124500
2706	GJB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:602540
2706	GJB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:149200
2706	GJB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:148210
2706	GJB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:601544
2706	GJB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:148350
2706	GJB2	HP:0001305	Dandy-Walker malformation	HP:0040284	ORPHA:477
2706	GJB2	HP:0001320	Cerebellar vermis hypoplasia	HP:0040284	ORPHA:477
2706	GJB2	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:477
2706	GJB2	HP:0000175	Cleft palate	HP:0040283	ORPHA:494
2706	GJB2	HP:0002797	Osteolysis	HP:0040283	ORPHA:494
2706	GJB2	HP:0031288	Cobblestone-like hyperkeratosis	1/1	OMIM:602540
2706	GJB2	HP:0032541	Knuckle pad	-	OMIM:124500
2706	GJB2	HP:0032541	Knuckle pad	2/4	OMIM:149200
2706	GJB2	HP:0032541	Knuckle pad	HP:0040281	ORPHA:2698
2706	GJB2	HP:0001419	X-linked recessive inheritance	-	OMIM:304400
2706	GJB2	HP:0002745	Oral leukoplakia	-	OMIM:148210
2706	GJB2	HP:0031250	Lip fissure	HP:0040284	ORPHA:477
2706	GJB2	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:494
2706	GJB2	HP:0008138	Equinus calcaneus	HP:0040284	ORPHA:477
2706	GJB2	HP:0002143	Abnormal spinal cord morphology	HP:0040283	ORPHA:494
2706	GJB2	HP:0002164	Nail dysplasia	-	OMIM:148210
2706	GJB2	HP:0011859	Punctate keratitis	HP:0040282	ORPHA:477
2706	GJB2	HP:0011859	Punctate keratitis	-	OMIM:602540
2706	GJB2	HP:0003593	Infantile onset	-	OMIM:602540
2706	GJB2	HP:0003577	Congenital onset	1/1	OMIM:602540
2706	GJB2	HP:0003577	Congenital onset	4/4	OMIM:149200
2706	GJB2	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:494
2706	GJB2	HP:0002221	Absent axillary hair	1/1	OMIM:148210
2706	GJB2	HP:0002209	Sparse scalp hair	1/1	OMIM:602540
2706	GJB2	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:477
2706	GJB2	HP:0008404	Nail dystrophy	-	OMIM:148210
2706	GJB2	HP:0008388	Abnormal toenail morphology	HP:0040283	ORPHA:494
2706	GJB2	HP:0001019	Erythroderma	1/1	OMIM:602540
2706	GJB2	HP:0100648	Neoplasm of the tongue	HP:0040284	ORPHA:477
2706	GJB2	HP:0200020	Corneal erosion	HP:0040282	ORPHA:477
2706	GJB2	HP:0025092	Epidermal acanthosis	HP:0040282	ORPHA:477
2706	GJB2	HP:0200036	Skin nodule	HP:0040284	ORPHA:477
2706	GJB2	HP:0200035	Skin plaque	HP:0040282	ORPHA:477
2706	GJB2	HP:0200034	Papule	HP:0040283	ORPHA:494
2706	GJB2	HP:0008527	Congenital sensorineural hearing impairment	HP:0040281	ORPHA:2698
2706	GJB2	HP:0008527	Congenital sensorineural hearing impairment	3/8	OMIM:304400
2706	GJB2	HP:0025084	Folliculitis	HP:0040283	ORPHA:477
2706	GJB2	HP:0009830	Peripheral neuropathy	HP:0040284	ORPHA:477
2706	GJB2	HP:0001097	Keratoconjunctivitis sicca	HP:0040282	ORPHA:477
2706	GJB2	HP:0001097	Keratoconjunctivitis sicca	1/1	OMIM:148210
2706	GJB2	HP:0009775	Amniotic constriction ring	HP:0040281	ORPHA:494
2706	GJB2	HP:0009775	Amniotic constriction ring	-	OMIM:124500
2706	GJB2	HP:0003623	Neonatal onset	1/1	OMIM:148210
2706	GJB2	HP:0032107	Limbal stem cell deficiency	HP:0040282	ORPHA:477
2706	GJB2	HP:0000618	Blindness	-	OMIM:148210
2706	GJB2	HP:0000613	Photophobia	HP:0040282	ORPHA:477
2706	GJB2	HP:0000613	Photophobia	1/1	OMIM:148210
2706	GJB2	HP:0011370	Recurrent cutaneous fungal infections	HP:0040283	ORPHA:477
2706	GJB2	HP:0000691	Microdontia	1/1	OMIM:148210
2706	GJB2	HP:0000653	Sparse eyelashes	1/1	OMIM:602540
2706	GJB2	HP:0000653	Sparse eyelashes	HP:0040282	ORPHA:477
2706	GJB2	HP:0000653	Sparse eyelashes	1/1	OMIM:148210
2706	GJB2	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:477
2706	GJB2	HP:0003065	Patellar hypoplasia	HP:0040284	ORPHA:477
2706	GJB2	HP:0011496	Corneal neovascularization	HP:0040281	ORPHA:477
2706	GJB2	HP:0011463	Childhood onset	-	OMIM:124500
2706	GJB2	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:477
2706	GJB2	HP:0004458	Dilatated internal auditory canal	4/4	OMIM:304400
2706	GJB2	HP:0012844	Trichilemmoma	HP:0040284	ORPHA:477
2706	GJB2	HP:0012804	Corneal ulceration	-	OMIM:148210
2706	GJB2	HP:0004552	Scarring alopecia of scalp	HP:0040282	ORPHA:477
2706	GJB2	HP:0004552	Scarring alopecia of scalp	-	OMIM:602540
2706	GJB2	HP:0045059	Hyperkeratotic papule	HP:0040283	ORPHA:2698
2706	GJB2	HP:0045075	Sparse eyebrow	1/1	OMIM:602540
2706	GJB2	HP:0045075	Sparse eyebrow	HP:0040282	ORPHA:477
2706	GJB2	HP:0045075	Sparse eyebrow	1/1	OMIM:148210
2706	GJB2	HP:0030839	Knee pain	HP:0040284	ORPHA:477
2706	GJB2	HP:0000972	Palmoplantar hyperkeratosis	HP:0040282	ORPHA:2698
2706	GJB2	HP:0000972	Palmoplantar hyperkeratosis	1/1	OMIM:602540
2706	GJB2	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:148350
2706	GJB2	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:2698
2706	GJB2	HP:0000982	Palmoplantar keratoderma	-	OMIM:602540
2706	GJB2	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:2202
2706	GJB2	HP:0000982	Palmoplantar keratoderma	4/4	OMIM:149200
2706	GJB2	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:477
2706	GJB2	HP:0000966	Hypohidrosis	HP:0040283	ORPHA:477
2706	GJB2	HP:0000966	Hypohidrosis	1/1	OMIM:148210
2706	GJB2	HP:0000962	Hyperkeratosis	-	OMIM:602540
2706	GJB2	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:2202
2706	GJB2	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:494
2706	GJB2	HP:0000962	Hyperkeratosis	1/1	OMIM:148210
2706	GJB2	HP:0008070	Sparse hair	HP:0040282	ORPHA:477
2706	GJB2	HP:0040154	Acne inversa	HP:0040284	ORPHA:477
2706	GJB2	HP:0008064	Ichthyosis	1/1	OMIM:602540
2706	GJB2	HP:0008064	Ichthyosis	HP:0040283	ORPHA:494
2706	GJB2	HP:0008064	Ichthyosis	1/1	OMIM:148210
2706	GJB2	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:477
2706	GJB2	HP:0040189	Scaling skin	HP:0040282	ORPHA:477
2706	GJB2	HP:0008038	Aplastic/hypoplastic lacrimal glands	HP:0040283	ORPHA:477
2706	GJB2	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:494
2706	GJB2	HP:0001596	Alopecia	HP:0040283	ORPHA:494
2706	GJB2	HP:0006380	Knee flexion contracture	HP:0040284	ORPHA:477
2706	GJB2	HP:0006380	Knee flexion contracture	-	OMIM:148210
2706	GJB2	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:477
2706	GJB2	HP:0000221	Furrowed tongue	-	OMIM:148210
2706	GJB2	HP:0000230	Gingivitis	HP:0040284	ORPHA:477
2706	GJB2	HP:0002860	Squamous cell carcinoma	HP:0040284	ORPHA:477
2706	GJB2	HP:0002860	Squamous cell carcinoma	1/1	OMIM:602540
2706	GJB2	HP:0002860	Squamous cell carcinoma	-	OMIM:148210
2706	GJB2	HP:0001508	Failure to thrive	HP:0040283	ORPHA:477
2706	GJB2	HP:0000399	Prelingual sensorineural hearing impairment	HP:0040282	ORPHA:477
2706	GJB2	HP:0000381	Stapes ankylosis	-	OMIM:304400
2706	GJB2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:494
2706	GJB2	HP:0000365	Hearing impairment	0/45	OMIM:124500
2706	GJB2	HP:0000365	Hearing impairment	4/4	OMIM:149200
2706	GJB2	HP:0000365	Hearing impairment	-	OMIM:148350
2706	GJB2	HP:0025610	Posterior blepharitis	HP:0040283	ORPHA:477
2706	GJB2	HP:0002987	Elbow flexion contracture	-	OMIM:148210
2706	GJB2	HP:0030318	Angular cheilitis	HP:0040283	ORPHA:477
2706	GJB2	HP:0005328	Progeroid facial appearance	HP:0040282	ORPHA:477
2706	GJB2	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:304400
2706	GJB2	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:602540
2706	GJB2	HP:0000407	Sensorineural hearing impairment	-	OMIM:220290
2706	GJB2	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:148210
2706	GJB2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:494
2706	GJB2	HP:0000407	Sensorineural hearing impairment	-	OMIM:601544
2706	GJB2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2202
2706	GJB2	HP:0000405	Conductive hearing impairment	-	OMIM:304400
2706	GJB2	HP:0000495	Recurrent corneal erosions	-	OMIM:148210
2706	GJB2	HP:0000491	Keratitis	HP:0040282	ORPHA:477
2706	GJB2	HP:0000491	Keratitis	1/1	OMIM:148210
2706	GJB2	HP:0001751	Abnormal vestibular function	HP:0040283	OMIM:220290
2706	GJB2	HP:0000410	Mixed hearing impairment	HP:0040283	ORPHA:2698
2706	GJB2	HP:0000410	Mixed hearing impairment	3/8	OMIM:304400
2706	GJB2	HP:0001761	Pes cavus	-	OMIM:602540
2706	GJB2	HP:0001761	Pes cavus	-	OMIM:148210
2706	GJB2	HP:0005406	Recurrent bacterial skin infections	HP:0040283	ORPHA:477
2706	GJB2	HP:0005406	Recurrent bacterial skin infections	-	OMIM:148210
2706	GJB2	HP:0005401	Recurrent candida infections	HP:0040283	ORPHA:477
2706	GJB2	HP:0001820	Leukonychia	3/4	OMIM:149200
2706	GJB2	HP:0001820	Leukonychia	HP:0040281	ORPHA:2698
2706	GJB2	HP:0000509	Conjunctivitis	HP:0040282	ORPHA:477
2706	GJB2	HP:0001805	Onychogryphosis	HP:0040283	ORPHA:477
2706	GJB2	HP:0000561	Absent eyelashes	-	OMIM:602540
2706	GJB2	HP:0011220	Prominent forehead	HP:0040284	ORPHA:477
2706	GJB2	HP:0000559	Corneal scarring	-	OMIM:148210
2706	GJB2	HP:0000572	Visual loss	HP:0040282	ORPHA:477
2707	GJB3	HP:0001182	Tapered finger	HP:0040283	ORPHA:317
2707	GJB3	HP:0001156	Brachydactyly	HP:0040283	ORPHA:317
2707	GJB3	HP:0025114	Hypergranulosis	-	OMIM:133200
2707	GJB3	HP:0001249	Intellectual disability	HP:0040283	ORPHA:317
2707	GJB3	HP:0007400	Irregular hyperpigmentation	HP:0040282	ORPHA:317
2707	GJB3	HP:0010984	Digenic inheritance	-	OMIM:220290
2707	GJB3	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:317
2707	GJB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:220290
2707	GJB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:133200
2707	GJB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:612644
2707	GJB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:133200
2707	GJB3	HP:0003593	Infantile onset	-	OMIM:133200
2707	GJB3	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:317
2707	GJB3	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:317
2707	GJB3	HP:0001019	Erythroderma	1/1	OMIM:133200
2707	GJB3	HP:0025092	Epidermal acanthosis	-	OMIM:133200
2707	GJB3	HP:0010783	Erythema	HP:0040281	ORPHA:317
2707	GJB3	HP:0005595	Generalized hyperkeratosis	1/1	OMIM:133200
2707	GJB3	HP:0005588	Patchy palmoplantar hyperkeratosis	HP:0040282	ORPHA:317
2707	GJB3	HP:0005588	Patchy palmoplantar hyperkeratosis	-	OMIM:133200
2707	GJB3	HP:0004322	Short stature	HP:0040281	ORPHA:317
2707	GJB3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:317
2707	GJB3	HP:0012733	Macule	HP:0040281	ORPHA:317
2707	GJB3	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:317
2707	GJB3	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:317
2707	GJB3	HP:0000988	Skin rash	HP:0040281	ORPHA:317
2707	GJB3	HP:0000958	Dry skin	HP:0040282	ORPHA:317
2707	GJB3	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:317
2707	GJB3	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:317
2707	GJB3	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:317
2707	GJB3	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:317
2707	GJB3	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:317
2707	GJB3	HP:0001596	Alopecia	HP:0040282	ORPHA:317
2707	GJB3	HP:0005101	High-frequency hearing impairment	-	OMIM:612644
2707	GJB3	HP:0000252	Microcephaly	HP:0040281	ORPHA:317
2707	GJB3	HP:0000365	Hearing impairment	HP:0040283	ORPHA:317
2707	GJB3	HP:0007957	Corneal opacity	HP:0040283	ORPHA:317
2707	GJB3	HP:0000407	Sensorineural hearing impairment	-	OMIM:220290
2707	GJB3	HP:0001751	Abnormal vestibular function	HP:0040283	OMIM:220290
2707	GJB3	HP:0000411	Protruding ear	HP:0040283	ORPHA:317
2707	GJB3	HP:0000518	Cataract	HP:0040282	ORPHA:317
2707	GJB3	HP:0001824	Weight loss	HP:0040281	ORPHA:317
2707	GJB3	HP:0000501	Glaucoma	HP:0040282	ORPHA:317
2710	GK	HP:0001254	Lethargy	-	OMIM:307030
2710	GK	HP:0001250	Seizure	1/4	OMIM:307030
2710	GK	HP:0001249	Intellectual disability	2/4	OMIM:307030
2710	GK	HP:0001263	Global developmental delay	12/14	OMIM:307030
2710	GK	HP:0001259	Coma	-	OMIM:307030
2710	GK	HP:0002572	Episodic vomiting	-	OMIM:307030
2710	GK	HP:0000028	Cryptorchidism	HP:0040283	OMIM:307030
2710	GK	HP:0006280	Chronic pancreatitis	1/4	OMIM:307030
2710	GK	HP:0002756	Pathologic fracture	-	OMIM:307030
2710	GK	HP:0001419	X-linked recessive inheritance	-	OMIM:307030
2710	GK	HP:0002714	Downturned corners of mouth	-	OMIM:307030
2710	GK	HP:0002018	Nausea	1/1	OMIM:307030
2710	GK	HP:0040301	Increased urinary glycerol	4/4	OMIM:307030
2710	GK	HP:0040302	Hyperglycerolemia	5/5	OMIM:307030
2710	GK	HP:0003326	Myalgia	1/1	OMIM:307030
2710	GK	HP:0002013	Vomiting	1/1	OMIM:307030
2710	GK	HP:0002007	Frontal bossing	-	OMIM:307030
2710	GK	HP:0008182	Adrenocortical hypoplasia	-	OMIM:307030
2710	GK	HP:0002155	Hypertriglyceridemia	-	OMIM:307030
2710	GK	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:307030
2710	GK	HP:0003581	Adult onset	1/4	OMIM:307030
2710	GK	HP:0003560	Muscular dystrophy	-	OMIM:307030
2710	GK	HP:0003621	Juvenile onset	1/4	OMIM:307030
2710	GK	HP:0007185	Loss of consciousness	-	OMIM:307030
2710	GK	HP:0001943	Hypoglycemia	-	OMIM:307030
2710	GK	HP:0001942	Metabolic acidosis	1/1	OMIM:307030
2710	GK	HP:0001993	Ketoacidosis	-	OMIM:307030
2710	GK	HP:0004322	Short stature	-	OMIM:307030
2710	GK	HP:0011463	Childhood onset	2/4	OMIM:307030
2710	GK	HP:4000211	Reduced glycerol kinase activity in cultured fibroblasts	1/1	OMIM:307030
2710	GK	HP:0003198	Myopathy	-	OMIM:307030
2710	GK	HP:0000846	Adrenal insufficiency	20/20	OMIM:307030
2710	GK	HP:0000939	Osteoporosis	-	OMIM:307030
2710	GK	HP:0001518	Small for gestational age	-	OMIM:307030
2710	GK	HP:0001510	Growth delay	-	OMIM:307030
2710	GK	HP:0000369	Low-set ears	-	OMIM:307030
2710	GK	HP:0000316	Hypertelorism	-	OMIM:307030
2710	GK	HP:0000486	Strabismus	-	OMIM:307030
2717	GLA	HP:0001155	Abnormality of the hand	-	OMIM:301500
2717	GLA	HP:0001131	Corneal dystrophy	-	OMIM:301500
2717	GLA	HP:0001131	Corneal dystrophy	HP:0040281	ORPHA:324
2717	GLA	HP:0033595	Elevated circulating globotriaosylceramide concentration	-	OMIM:301500
2717	GLA	HP:0033595	Elevated circulating globotriaosylceramide concentration	HP:0040281	ORPHA:324
2717	GLA	HP:0034864	Decreased alpha-galactosidase A activity	-	OMIM:301500
2717	GLA	HP:0034864	Decreased alpha-galactosidase A activity	HP:0040281	ORPHA:324
2717	GLA	HP:0001297	Stroke	HP:0040283	ORPHA:324
2717	GLA	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:324
2717	GLA	HP:0001250	Seizure	HP:0040283	ORPHA:324
2717	GLA	HP:0001250	Seizure	-	OMIM:301500
2717	GLA	HP:0002571	Achalasia	HP:0040283	ORPHA:324
2717	GLA	HP:0031006	Acroparesthesia	HP:0040282	ORPHA:324
2717	GLA	HP:0000083	Renal insufficiency	21/754	OMIM:301500
2717	GLA	HP:0000083	Renal insufficiency	HP:0040281	ORPHA:324
2717	GLA	HP:0000091	Abnormal renal tubule morphology	HP:0040282	ORPHA:324
2717	GLA	HP:0000093	Proteinuria	246/754	OMIM:301500
2717	GLA	HP:0000093	Proteinuria	HP:0040282	ORPHA:324
2717	GLA	HP:0001369	Arthritis	HP:0040281	ORPHA:324
2717	GLA	HP:0000179	Thick lower lip vermilion	HP:0040282	ORPHA:324
2717	GLA	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:324
2717	GLA	HP:0500008	Cornea verticillata	HP:0040282	ORPHA:324
2717	GLA	HP:0000100	Nephrotic syndrome	HP:0040281	ORPHA:324
2717	GLA	HP:0000112	Nephropathy	HP:0040282	ORPHA:324
2717	GLA	HP:0032567	Lipiduria	-	OMIM:301500
2717	GLA	HP:0032568	Urinary mulberry cells	-	OMIM:301500
2717	GLA	HP:0001419	X-linked recessive inheritance	-	OMIM:301500
2717	GLA	HP:0002024	Malabsorption	HP:0040281	ORPHA:324
2717	GLA	HP:0002018	Nausea	-	OMIM:301500
2717	GLA	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:324
2717	GLA	HP:0002027	Abdominal pain	-	OMIM:301500
2717	GLA	HP:0002027	Abdominal pain	HP:0040281	ORPHA:324
2717	GLA	HP:0003326	Myalgia	HP:0040281	ORPHA:324
2717	GLA	HP:0002014	Diarrhea	-	OMIM:301500
2717	GLA	HP:0002013	Vomiting	-	OMIM:301500
2717	GLA	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:324
2717	GLA	HP:0002097	Emphysema	HP:0040282	ORPHA:324
2717	GLA	HP:0002094	Dyspnea	HP:0040283	ORPHA:324
2717	GLA	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:324
2717	GLA	HP:0003394	Muscle spasm	-	OMIM:301500
2717	GLA	HP:0002046	Heat intolerance	HP:0040282	ORPHA:324
2717	GLA	HP:0002039	Anorexia	HP:0040282	ORPHA:324
2717	GLA	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:324
2717	GLA	HP:0100579	Mucosal telangiectasiae	HP:0040281	ORPHA:324
2717	GLA	HP:0011710	Bundle branch block	HP:0040282	ORPHA:324
2717	GLA	HP:0003401	Paresthesia	-	OMIM:301500
2717	GLA	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:324
2717	GLA	HP:0002380	Fasciculations	-	OMIM:301500
2717	GLA	HP:0002376	Developmental regression	HP:0040283	ORPHA:324
2717	GLA	HP:0001014	Angiokeratoma	-	OMIM:301500
2717	GLA	HP:0001014	Angiokeratoma	HP:0040281	ORPHA:324
2717	GLA	HP:0001004	Lymphedema	HP:0040283	ORPHA:324
2717	GLA	HP:0001004	Lymphedema	-	OMIM:301500
2717	GLA	HP:0002321	Vertigo	HP:0040283	ORPHA:324
2717	GLA	HP:0002326	Transient ischemic attack	46/754	OMIM:301500
2717	GLA	HP:0002326	Transient ischemic attack	HP:0040281	ORPHA:324
2717	GLA	HP:0001071	Angiokeratoma corporis diffusum	-	OMIM:301500
2717	GLA	HP:0003621	Juvenile onset	-	OMIM:301500
2717	GLA	HP:0000648	Optic atrophy	HP:0040282	ORPHA:324
2717	GLA	HP:0001945	Fever	HP:0040283	ORPHA:324
2717	GLA	HP:0001903	Anemia	HP:0040281	ORPHA:324
2717	GLA	HP:0001903	Anemia	-	OMIM:301500
2717	GLA	HP:0004322	Short stature	HP:0040282	ORPHA:324
2717	GLA	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:324
2717	GLA	HP:0003077	Hyperlipidemia	HP:0040282	ORPHA:324
2717	GLA	HP:0004343	Abnormal glycosphingolipid metabolism	HP:0040281	ORPHA:324
2717	GLA	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:324
2717	GLA	HP:0000739	Anxiety	HP:0040283	ORPHA:324
2717	GLA	HP:0012702	Tenesmus	-	OMIM:301500
2717	GLA	HP:0000716	Depression	HP:0040283	ORPHA:324
2717	GLA	HP:0000708	Atypical behavior	HP:0040282	ORPHA:324
2717	GLA	HP:0000790	Hematuria	HP:0040281	ORPHA:324
2717	GLA	HP:0003119	Abnormal circulating lipid concentration	HP:0040282	ORPHA:324
2717	GLA	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:324
2717	GLA	HP:0000822	Hypertension	HP:0040283	ORPHA:324
2717	GLA	HP:0000822	Hypertension	-	OMIM:301500
2717	GLA	HP:0000823	Delayed puberty	HP:0040282	ORPHA:324
2717	GLA	HP:0000823	Delayed puberty	-	OMIM:301500
2717	GLA	HP:0000975	Hyperhidrosis	HP:0040284	ORPHA:324
2717	GLA	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:324
2717	GLA	HP:0000966	Hypohidrosis	-	OMIM:301500
2717	GLA	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:324
2717	GLA	HP:0011675	Arrhythmia	-	OMIM:301500
2717	GLA	HP:0011675	Arrhythmia	HP:0040283	ORPHA:324
2717	GLA	HP:0000280	Coarse facial features	HP:0040282	ORPHA:324
2717	GLA	HP:0005144	Ventricular septal hypertrophy	-	OMIM:301500
2717	GLA	HP:0002829	Arthralgia	HP:0040281	ORPHA:324
2717	GLA	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:324
2717	GLA	HP:0006510	Chronic pulmonary obstruction	HP:0040283	ORPHA:324
2717	GLA	HP:0012378	Fatigue	HP:0040281	ORPHA:324
2717	GLA	HP:0006536	Airway obstruction	-	OMIM:301500
2717	GLA	HP:0000365	Hearing impairment	HP:0040281	ORPHA:324
2717	GLA	HP:0000360	Tinnitus	HP:0040282	ORPHA:324
2717	GLA	HP:0012332	Abnormal autonomic nervous system physiology	-	OMIM:301500
2717	GLA	HP:0001681	Angina pectoris	-	OMIM:301500
2717	GLA	HP:0001681	Angina pectoris	HP:0040283	ORPHA:324
2717	GLA	HP:0001678	Atrioventricular block	HP:0040282	ORPHA:324
2717	GLA	HP:0001646	Abnormal aortic valve morphology	HP:0040282	ORPHA:324
2717	GLA	HP:0001658	Myocardial infarction	-	OMIM:301500
2717	GLA	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:324
2717	GLA	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:324
2717	GLA	HP:0001635	Congestive heart failure	-	OMIM:301500
2717	GLA	HP:0001635	Congestive heart failure	HP:0040281	ORPHA:324
2717	GLA	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:324
2717	GLA	HP:0007957	Corneal opacity	HP:0040281	ORPHA:324
2717	GLA	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:324
2717	GLA	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:324
2717	GLA	HP:0001712	Left ventricular hypertrophy	180/754	OMIM:301500
2717	GLA	HP:0000518	Cataract	HP:0040282	ORPHA:324
2717	GLA	HP:0000524	Conjunctival telangiectasia	HP:0040281	ORPHA:324
2717	GLA	HP:0012532	Chronic pain	HP:0040282	ORPHA:324
2719	GPC3	HP:0001169	Broad palm	-	OMIM:312870
2719	GPC3	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:373
2719	GPC3	HP:0001162	Postaxial hand polydactyly	-	OMIM:312870
2719	GPC3	HP:0009908	Anterior creases of earlobe	4/7	OMIM:312870
2719	GPC3	HP:0009882	Short distal phalanx of finger	-	OMIM:312870
2719	GPC3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2719	GPC3	HP:0001293	Cranial nerve compression	-	OMIM:131300
2719	GPC3	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:373
2719	GPC3	HP:0001274	Agenesis of corpus callosum	1/6	OMIM:312870
2719	GPC3	HP:0001270	Motor delay	8/13	OMIM:312870
2719	GPC3	HP:0001250	Seizure	HP:0040283	ORPHA:373
2719	GPC3	HP:0001252	Hypotonia	HP:0040283	ORPHA:373
2719	GPC3	HP:0001252	Hypotonia	2/6	OMIM:312870
2719	GPC3	HP:0001252	Hypotonia	2/7	OMIM:615777
2719	GPC3	HP:0001249	Intellectual disability	HP:0040283	ORPHA:373
2719	GPC3	HP:0001249	Intellectual disability	5/7	OMIM:615777
2719	GPC3	HP:0001263	Global developmental delay	HP:0040283	ORPHA:373
2719	GPC3	HP:0001263	Global developmental delay	-	OMIM:615777
2719	GPC3	HP:0001233	2-3 finger cutaneous syndactyly	-	OMIM:312870
2719	GPC3	HP:0002558	Supernumerary nipple	HP:0040281	ORPHA:373
2719	GPC3	HP:0002558	Supernumerary nipple	5/7	OMIM:312870
2719	GPC3	HP:0002566	Intestinal malrotation	-	OMIM:312870
2719	GPC3	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:373
2719	GPC3	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:373
2719	GPC3	HP:0002515	Waddling gait	54/102	OMIM:131300
2719	GPC3	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:654
2719	GPC3	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:654
2719	GPC3	HP:0000098	Tall stature	HP:0040281	ORPHA:373
2719	GPC3	HP:0000098	Tall stature	-	OMIM:312870
2719	GPC3	HP:0000073	Ureteral duplication	HP:0040282	ORPHA:373
2719	GPC3	HP:0000072	Hydroureter	HP:0040282	ORPHA:373
2719	GPC3	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:373
2719	GPC3	HP:0001382	Joint hypermobility	-	OMIM:615777
2719	GPC3	HP:0000047	Hypospadias	HP:0040283	ORPHA:373
2719	GPC3	HP:0000047	Hypospadias	HP:0040283	ORPHA:654
2719	GPC3	HP:0000047	Hypospadias	-	OMIM:312870
2719	GPC3	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:373
2719	GPC3	HP:0000023	Inguinal hernia	1/7	OMIM:312870
2719	GPC3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2719	GPC3	HP:0033834	Malaise	HP:0040283	ORPHA:654
2719	GPC3	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:373
2719	GPC3	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:654
2719	GPC3	HP:0000028	Cryptorchidism	-	OMIM:312870
2719	GPC3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2719	GPC3	HP:0006176	Two carpal ossification centers present at birth	-	OMIM:312870
2719	GPC3	HP:0002664	Neoplasm	HP:0040281	ORPHA:654
2719	GPC3	HP:0002664	Neoplasm	HP:0040283	ORPHA:373
2719	GPC3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2719	GPC3	HP:0001324	Muscle weakness	40/96	OMIM:131300
2719	GPC3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2719	GPC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2719	GPC3	HP:0002667	Nephroblastoma	HP:0040281	ORPHA:654
2719	GPC3	HP:0002667	Nephroblastoma	HP:0040283	ORPHA:373
2719	GPC3	HP:0002667	Nephroblastoma	-	OMIM:312870
2719	GPC3	HP:0002667	Nephroblastoma	-	OMIM:194070
2719	GPC3	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:373
2719	GPC3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2719	GPC3	HP:0000006	Autosomal dominant inheritance	-	OMIM:194070
2719	GPC3	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:373
2719	GPC3	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:312870
2719	GPC3	HP:0002650	Scoliosis	HP:0040282	ORPHA:373
2719	GPC3	HP:0002650	Scoliosis	12/14	OMIM:131300
2719	GPC3	HP:0002650	Scoliosis	-	OMIM:312870
2719	GPC3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2719	GPC3	HP:0002643	Neonatal respiratory distress	1/1	OMIM:312870
2719	GPC3	HP:0031105	Abnormal uterus morphology	HP:0040283	ORPHA:654
2719	GPC3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2719	GPC3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2719	GPC3	HP:0000189	Narrow palate	3/6	OMIM:312870
2719	GPC3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2719	GPC3	HP:0000158	Macroglossia	HP:0040281	ORPHA:373
2719	GPC3	HP:0000158	Macroglossia	11/13	OMIM:312870
2719	GPC3	HP:0000175	Cleft palate	HP:0040282	ORPHA:373
2719	GPC3	HP:0000175	Cleft palate	1/1	OMIM:312870
2719	GPC3	HP:0000175	Cleft palate	2/7	OMIM:615777
2719	GPC3	HP:0000154	Wide mouth	HP:0040281	ORPHA:373
2719	GPC3	HP:0000154	Wide mouth	5/7	OMIM:312870
2719	GPC3	HP:0002705	High, narrow palate	HP:0040282	ORPHA:373
2719	GPC3	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:373
2719	GPC3	HP:0000126	Hydronephrosis	1/1	OMIM:312870
2719	GPC3	HP:0001442	Typified by somatic mosaicism	-	OMIM:194070
2719	GPC3	HP:0000107	Renal cyst	-	OMIM:312870
2719	GPC3	HP:0000105	Enlarged kidney	-	OMIM:312870
2719	GPC3	HP:0001419	X-linked recessive inheritance	-	OMIM:312870
2719	GPC3	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:654
2719	GPC3	HP:0002711	Exaggerated median tongue furrow	4/6	OMIM:312870
2719	GPC3	HP:0002023	Anal atresia	1/1	OMIM:312870
2719	GPC3	HP:0002027	Abdominal pain	HP:0040282	ORPHA:654
2719	GPC3	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:654
2719	GPC3	HP:0002094	Dyspnea	HP:0040284	ORPHA:654
2719	GPC3	HP:0003375	Narrow greater sciatic notch	-	OMIM:312870
2719	GPC3	HP:0003388	Easy fatigability	36/76	OMIM:131300
2719	GPC3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2719	GPC3	HP:0011710	Bundle branch block	HP:0040282	ORPHA:373
2719	GPC3	HP:0002101	Abnormal lung lobation	-	OMIM:312870
2719	GPC3	HP:0003422	Vertebral segmentation defect	HP:0040281	ORPHA:373
2719	GPC3	HP:0003422	Vertebral segmentation defect	-	OMIM:312870
2719	GPC3	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:373
2719	GPC3	HP:0002164	Nail dysplasia	HP:0040282	ORPHA:373
2719	GPC3	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:373
2719	GPC3	HP:0009536	Short 2nd finger	HP:0040282	ORPHA:373
2719	GPC3	HP:0002245	Meckel diverticulum	-	OMIM:312870
2719	GPC3	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:373
2719	GPC3	HP:0002240	Hepatomegaly	2/7	OMIM:312870
2719	GPC3	HP:0008416	Six lumbar vertebrae	2/6	OMIM:312870
2719	GPC3	HP:0008330	Reduced von Willebrand factor activity	HP:0040283	ORPHA:654
2719	GPC3	HP:0003510	Severe short stature	7/7	OMIM:615777
2719	GPC3	HP:0003517	Birth length greater than 97th percentile	5/7	OMIM:312870
2719	GPC3	HP:0002315	Headache	-	OMIM:131300
2719	GPC3	HP:0004976	Knee dislocation	6/7	OMIM:615777
2719	GPC3	HP:0008523	Posterior helix pit	-	OMIM:312870
2719	GPC3	HP:0009803	Short phalanx of finger	-	OMIM:615777
2719	GPC3	HP:0009763	Limb pain	63/92	OMIM:131300
2719	GPC3	HP:0003621	Juvenile onset	-	OMIM:131300
2719	GPC3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2719	GPC3	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:373
2719	GPC3	HP:0004279	Short palm	1/6	OMIM:312870
2719	GPC3	HP:0005580	Duplication of renal pelvis	-	OMIM:312870
2719	GPC3	HP:0005580	Duplication of renal pelvis	HP:0040282	ORPHA:654
2719	GPC3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2719	GPC3	HP:6001056	Out-toeing	-	OMIM:131300
2719	GPC3	HP:0000651	Diplopia	-	OMIM:131300
2719	GPC3	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:373
2719	GPC3	HP:0001945	Fever	HP:0040283	ORPHA:654
2719	GPC3	HP:0001956	Truncal obesity	2/7	OMIM:615777
2719	GPC3	HP:0001903	Anemia	HP:0040283	ORPHA:654
2719	GPC3	HP:0001903	Anemia	HP:0040283	OMIM:131300
2719	GPC3	HP:0001901	Polycythemia	HP:0040283	ORPHA:654
2719	GPC3	HP:0010049	Short metacarpal	-	OMIM:615777
2719	GPC3	HP:0000678	Dental crowding	-	OMIM:615777
2719	GPC3	HP:0011330	Metopic synostosis	1/1	OMIM:312870
2719	GPC3	HP:0000689	Dental malocclusion	-	OMIM:312870
2719	GPC3	HP:0000670	Carious teeth	-	OMIM:131300
2719	GPC3	HP:0011304	Broad thumb	2/7	OMIM:615777
2719	GPC3	HP:0011304	Broad thumb	HP:0040282	ORPHA:373
2719	GPC3	HP:0011304	Broad thumb	-	OMIM:312870
2719	GPC3	HP:0000668	Hypodontia	-	OMIM:615777
2719	GPC3	HP:0000664	Synophrys	-	OMIM:615777
2719	GPC3	HP:0005616	Accelerated skeletal maturation	HP:0040283	ORPHA:373
2719	GPC3	HP:0005616	Accelerated skeletal maturation	-	OMIM:312870
2719	GPC3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:373
2719	GPC3	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:654
2719	GPC3	HP:0004396	Poor appetite	-	OMIM:131300
2719	GPC3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2719	GPC3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2719	GPC3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2719	GPC3	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:373
2719	GPC3	HP:0003026	Short long bone	7/7	OMIM:615777
2719	GPC3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2719	GPC3	HP:0009101	Submucous cleft lip	-	OMIM:312870
2719	GPC3	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:373
2719	GPC3	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:373
2719	GPC3	HP:0000767	Pectus excavatum	-	OMIM:312870
2719	GPC3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2719	GPC3	HP:0000768	Pectus carinatum	1/6	OMIM:312870
2719	GPC3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2719	GPC3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2719	GPC3	HP:0000750	Delayed speech and language development	5/7	OMIM:312870
2719	GPC3	HP:0000750	Delayed speech and language development	-	OMIM:615777
2719	GPC3	HP:0011461	Fetal onset	7/7	OMIM:615777
2719	GPC3	HP:0000774	Narrow chest	2/7	OMIM:615777
2719	GPC3	HP:0000773	Short ribs	2/6	OMIM:312870
2719	GPC3	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:373
2719	GPC3	HP:0000776	Congenital diaphragmatic hernia	2/7	OMIM:312870
2719	GPC3	HP:0003196	Short nose	HP:0040282	ORPHA:373
2719	GPC3	HP:0003196	Short nose	2/7	OMIM:312870
2719	GPC3	HP:0000926	Platyspondyly	1/7	OMIM:615777
2719	GPC3	HP:0003185	Short greater sciatic notch	-	OMIM:312870
2719	GPC3	HP:0003180	Flat acetabular roof	-	OMIM:615777
2719	GPC3	HP:0004482	Relative macrocephaly	-	OMIM:615777
2719	GPC3	HP:0004467	Preauricular pit	-	OMIM:312870
2719	GPC3	HP:0004464	Postauricular pit	1/1	OMIM:312870
2719	GPC3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2719	GPC3	HP:0012871	Varicocele	HP:0040283	ORPHA:654
2719	GPC3	HP:0000879	Short sternum	1/6	OMIM:312870
2719	GPC3	HP:0000891	Cervical ribs	-	OMIM:312870
2719	GPC3	HP:0000822	Hypertension	HP:0040283	ORPHA:654
2719	GPC3	HP:0000823	Delayed puberty	-	OMIM:131300
2719	GPC3	HP:0000894	Short clavicles	-	OMIM:615777
2719	GPC3	HP:0003212	Increased circulating IgE concentration	HP:0040281	ORPHA:373
2719	GPC3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2719	GPC3	HP:0004510	Pancreatic islet-cell hyperplasia	-	OMIM:312870
2719	GPC3	HP:0004510	Pancreatic islet-cell hyperplasia	HP:0040283	ORPHA:373
2719	GPC3	HP:0000998	Hypertrichosis	1/1	OMIM:312870
2719	GPC3	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040282	ORPHA:373
2719	GPC3	HP:0100259	Postaxial polydactyly	-	OMIM:312870
2719	GPC3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2719	GPC3	HP:0009381	Short finger	1/1	OMIM:312870
2719	GPC3	HP:0011675	Arrhythmia	-	OMIM:312870
2719	GPC3	HP:0000286	Epicanthus	HP:0040283	ORPHA:373
2719	GPC3	HP:0000286	Epicanthus	2/6	OMIM:312870
2719	GPC3	HP:0000286	Epicanthus	1/7	OMIM:615777
2719	GPC3	HP:0000280	Coarse facial features	HP:0040281	ORPHA:373
2719	GPC3	HP:0000280	Coarse facial features	6/7	OMIM:312870
2719	GPC3	HP:0000280	Coarse facial features	2/7	OMIM:615777
2719	GPC3	HP:0000297	Facial hypotonia	1/1	OMIM:312870
2719	GPC3	HP:0000256	Macrocephaly	HP:0040281	ORPHA:373
2719	GPC3	HP:0000256	Macrocephaly	2/7	OMIM:312870
2719	GPC3	HP:0002827	Hip dislocation	3/7	OMIM:615777
2719	GPC3	HP:0000243	Trigonocephaly	1/1	OMIM:312870
2719	GPC3	HP:0000238	Hydrocephalus	-	OMIM:312870
2719	GPC3	HP:0002898	Embryonal neoplasm	-	OMIM:312870
2719	GPC3	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:654
2719	GPC3	HP:0000252	Microcephaly	-	OMIM:615777
2719	GPC3	HP:0002884	Hepatoblastoma	HP:0040283	ORPHA:373
2719	GPC3	HP:0002884	Hepatoblastoma	1/6	OMIM:312870
2719	GPC3	HP:0001548	Overgrowth	4/7	OMIM:312870
2719	GPC3	HP:0000212	Gingival overgrowth	1/1	OMIM:312870
2719	GPC3	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:373
2719	GPC3	HP:0001561	Polyhydramnios	2/2	OMIM:312870
2719	GPC3	HP:0001528	Hemihypertrophy	HP:0040283	ORPHA:654
2719	GPC3	HP:0002857	Genu valgum	-	OMIM:131300
2719	GPC3	HP:0001522	Death in infancy	HP:0040282	ORPHA:373
2719	GPC3	HP:0001540	Diastasis recti	2/6	OMIM:312870
2719	GPC3	HP:0002869	Flared iliac wing	-	OMIM:312870
2719	GPC3	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:373
2719	GPC3	HP:0001537	Umbilical hernia	2/8	OMIM:312870
2719	GPC3	HP:0001539	Omphalocele	HP:0040282	ORPHA:373
2719	GPC3	HP:0001533	Slender build	-	OMIM:131300
2719	GPC3	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:373
2719	GPC3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2719	GPC3	HP:0007807	Optic nerve compression	-	OMIM:131300
2719	GPC3	HP:0031500	Abdominal mass	HP:0040281	ORPHA:654
2719	GPC3	HP:0000384	Preauricular skin tag	-	OMIM:312870
2719	GPC3	HP:0011039	Abnormal helix morphology	HP:0040282	ORPHA:373
2719	GPC3	HP:0012368	Flat face	7/7	OMIM:615777
2719	GPC3	HP:0001609	Hoarse voice	HP:0040283	ORPHA:373
2719	GPC3	HP:0001608	Abnormality of the voice	HP:0040283	ORPHA:373
2719	GPC3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2719	GPC3	HP:0002948	Vertebral fusion	HP:0040281	ORPHA:373
2719	GPC3	HP:0002907	Microscopic hematuria	HP:0040283	ORPHA:654
2719	GPC3	HP:0005160	Total anomalous pulmonary venous return	1/1	OMIM:312870
2719	GPC3	HP:0000365	Hearing impairment	10/67	OMIM:131300
2719	GPC3	HP:0000365	Hearing impairment	-	OMIM:312870
2719	GPC3	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:373
2719	GPC3	HP:0000343	Long philtrum	1/7	OMIM:615777
2719	GPC3	HP:0011001	Increased bone mineral density	-	OMIM:131300
2719	GPC3	HP:0001669	Transposition of the great arteries	-	OMIM:312870
2719	GPC3	HP:0000337	Broad forehead	5/6	OMIM:312870
2719	GPC3	HP:0001667	Right ventricular hypertrophy	1/6	OMIM:312870
2719	GPC3	HP:0000316	Hypertelorism	HP:0040281	ORPHA:373
2719	GPC3	HP:0000316	Hypertelorism	5/7	OMIM:312870
2719	GPC3	HP:0001643	Patent ductus arteriosus	-	OMIM:312870
2719	GPC3	HP:0000311	Round face	2/7	OMIM:615777
2719	GPC3	HP:0001642	Pulmonic stenosis	1/1	OMIM:312870
2719	GPC3	HP:0001657	Prolonged QT interval	HP:0040282	ORPHA:373
2719	GPC3	HP:0001629	Ventricular septal defect	HP:0040281	ORPHA:373
2719	GPC3	HP:0001629	Ventricular septal defect	1/1	OMIM:312870
2719	GPC3	HP:0002970	Genu varum	-	OMIM:615777
2719	GPC3	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:373
2719	GPC3	HP:0001638	Cardiomyopathy	-	OMIM:312870
2719	GPC3	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:373
2719	GPC3	HP:0001631	Atrial septal defect	1/1	OMIM:312870
2719	GPC3	HP:0000303	Mandibular prognathia	-	OMIM:131300
2719	GPC3	HP:0000303	Mandibular prognathia	HP:0040281	ORPHA:373
2719	GPC3	HP:0000303	Mandibular prognathia	1/1	OMIM:312870
2719	GPC3	HP:0006610	Wide intermamillary distance	1/1	OMIM:312870
2719	GPC3	HP:0005280	Depressed nasal bridge	1/1	OMIM:312870
2719	GPC3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2719	GPC3	HP:0012471	Thick vermilion border	4/6	OMIM:312870
2719	GPC3	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:373
2719	GPC3	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:312870
2719	GPC3	HP:0001792	Small nail	HP:0040282	ORPHA:373
2719	GPC3	HP:0000463	Anteverted nares	HP:0040282	ORPHA:373
2719	GPC3	HP:0000463	Anteverted nares	2/7	OMIM:312870
2719	GPC3	HP:0000470	Short neck	HP:0040282	ORPHA:373
2719	GPC3	HP:0000470	Short neck	1/7	OMIM:615777
2719	GPC3	HP:0000465	Webbed neck	HP:0040282	ORPHA:373
2719	GPC3	HP:0001799	Short nail	1/1	OMIM:312870
2719	GPC3	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:373
2719	GPC3	HP:0001773	Short foot	HP:0040281	ORPHA:373
2719	GPC3	HP:0001773	Short foot	-	OMIM:312870
2719	GPC3	HP:0001769	Broad foot	HP:0040281	ORPHA:373
2719	GPC3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2719	GPC3	HP:0001769	Broad foot	-	OMIM:312870
2719	GPC3	HP:0001763	Pes planus	1/7	OMIM:615777
2719	GPC3	HP:0001748	Polysplenia	HP:0040283	ORPHA:373
2719	GPC3	HP:0001748	Polysplenia	-	OMIM:312870
2719	GPC3	HP:0001744	Splenomegaly	HP:0040281	ORPHA:373
2719	GPC3	HP:0001744	Splenomegaly	1/6	OMIM:312870
2719	GPC3	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:373
2719	GPC3	HP:0001762	Talipes equinovarus	-	OMIM:312870
2719	GPC3	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:373
2719	GPC3	HP:0000431	Wide nasal bridge	1/1	OMIM:312870
2719	GPC3	HP:0001840	Metatarsus adductus	-	OMIM:615777
2719	GPC3	HP:0000526	Aniridia	HP:0040283	ORPHA:654
2719	GPC3	HP:0000520	Proptosis	2/4	OMIM:131300
2719	GPC3	HP:0000520	Proptosis	7/7	OMIM:615777
2719	GPC3	HP:0001824	Weight loss	HP:0040283	ORPHA:654
2719	GPC3	HP:0001837	Broad toe	-	OMIM:312870
2719	GPC3	HP:0001831	Short toe	HP:0040281	ORPHA:373
2719	GPC3	HP:0012587	Macroscopic hematuria	HP:0040282	ORPHA:654
2719	GPC3	HP:0000592	Blue sclerae	2/7	OMIM:615777
2719	GPC3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2719	GPC3	HP:0012514	Lower limb pain	4/4	OMIM:131300
2720	GLB1	HP:0007313	Cerebral degeneration	-	OMIM:230500
2720	GLB1	HP:0007281	Developmental stagnation	-	OMIM:230600
2720	GLB1	HP:0007272	Progressive psychomotor deterioration	-	OMIM:230600
2720	GLB1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2720	GLB1	HP:0001293	Cranial nerve compression	-	OMIM:131300
2720	GLB1	HP:0001290	Generalized hypotonia	1/1	OMIM:230600
2720	GLB1	HP:0001276	Hypertonia	3/111	OMIM:230500
2720	GLB1	HP:0001288	Gait disturbance	1/1	OMIM:230600
2720	GLB1	HP:0001256	Intellectual disability, mild	-	OMIM:230650
2720	GLB1	HP:0001250	Seizure	0/3	OMIM:230650
2720	GLB1	HP:0001250	Seizure	10/115	OMIM:230500
2720	GLB1	HP:0001250	Seizure	HP:0040283	ORPHA:79255
2720	GLB1	HP:0001252	Hypotonia	111/115	OMIM:230500
2720	GLB1	HP:0001252	Hypotonia	2/7	OMIM:615777
2720	GLB1	HP:0001251	Ataxia	-	OMIM:230600
2720	GLB1	HP:0001251	Ataxia	1/3	OMIM:230650
2720	GLB1	HP:0001251	Ataxia	2/9	OMIM:253010
2720	GLB1	HP:0001249	Intellectual disability	119/119	OMIM:230500
2720	GLB1	HP:0001249	Intellectual disability	0/9	OMIM:253010
2720	GLB1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:79255
2720	GLB1	HP:0001249	Intellectual disability	5/7	OMIM:615777
2720	GLB1	HP:0001260	Dysarthria	2/3	OMIM:230650
2720	GLB1	HP:0001263	Global developmental delay	119/119	OMIM:230500
2720	GLB1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:79255
2720	GLB1	HP:0001263	Global developmental delay	-	OMIM:615777
2720	GLB1	HP:0001257	Spasticity	HP:0040282	ORPHA:79255
2720	GLB1	HP:0001230	Broad metacarpals	HP:0040283	ORPHA:79255
2720	GLB1	HP:0410346	Increased urinary galactosylated oligosaccharide	HP:0040281	ORPHA:79255
2720	GLB1	HP:0001223	Pointed proximal second through fifth metacarpals	-	OMIM:253010
2720	GLB1	HP:0002515	Waddling gait	54/102	OMIM:131300
2720	GLB1	HP:0002510	Spastic tetraplegia	-	OMIM:230600
2720	GLB1	HP:0002506	Diffuse cerebral atrophy	-	OMIM:230650
2720	GLB1	HP:0002506	Diffuse cerebral atrophy	HP:0040282	ORPHA:79255
2720	GLB1	HP:0008807	Acetabular dysplasia	HP:0040283	ORPHA:79255
2720	GLB1	HP:0012070	Chondroitin sulfate excretion in urine	4/9	OMIM:253010
2720	GLB1	HP:0008812	Flattened femoral head	HP:0040283	ORPHA:79255
2720	GLB1	HP:0012069	Keratan sulfate excretion in urine	-	OMIM:253010
2720	GLB1	HP:0000079	Abnormality of the urinary system	-	OMIM:230500
2720	GLB1	HP:0001385	Hip dysplasia	2/9	OMIM:253010
2720	GLB1	HP:0001387	Joint stiffness	1/1	OMIM:230600
2720	GLB1	HP:0001387	Joint stiffness	1/9	OMIM:253010
2720	GLB1	HP:0001387	Joint stiffness	-	OMIM:230500
2720	GLB1	HP:0001382	Joint hypermobility	-	OMIM:253010
2720	GLB1	HP:0001382	Joint hypermobility	-	OMIM:615777
2720	GLB1	HP:0000023	Inguinal hernia	-	OMIM:230500
2720	GLB1	HP:0000023	Inguinal hernia	-	OMIM:253010
2720	GLB1	HP:0002684	Thickened calvaria	HP:0040283	ORPHA:79255
2720	GLB1	HP:0001350	Slurred speech	-	OMIM:230650
2720	GLB1	HP:0001347	Hyperreflexia	-	OMIM:230650
2720	GLB1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2720	GLB1	HP:0002690	Large sella turcica	HP:0040283	ORPHA:79255
2720	GLB1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2720	GLB1	HP:0001332	Dystonia	-	OMIM:230650
2720	GLB1	HP:0033725	Thin corpus callosum	2/9	OMIM:253010
2720	GLB1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2720	GLB1	HP:0001324	Muscle weakness	40/96	OMIM:131300
2720	GLB1	HP:0002673	Coxa valga	-	OMIM:230600
2720	GLB1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2720	GLB1	HP:0002673	Coxa valga	-	OMIM:253010
2720	GLB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:230600
2720	GLB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:230650
2720	GLB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2720	GLB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:230500
2720	GLB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:253010
2720	GLB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2720	GLB1	HP:0001336	Myoclonus	0/3	OMIM:230650
2720	GLB1	HP:0002652	Skeletal dysplasia	HP:0040282	ORPHA:79255
2720	GLB1	HP:0002650	Scoliosis	-	OMIM:230500
2720	GLB1	HP:0002650	Scoliosis	1/1	OMIM:230600
2720	GLB1	HP:0002650	Scoliosis	1/1	OMIM:230650
2720	GLB1	HP:0002650	Scoliosis	12/14	OMIM:131300
2720	GLB1	HP:0002650	Scoliosis	1/9	OMIM:253010
2720	GLB1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2720	GLB1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2720	GLB1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2720	GLB1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2720	GLB1	HP:0000160	Narrow mouth	1/1	OMIM:230600
2720	GLB1	HP:0000158	Macroglossia	HP:0040283	ORPHA:79255
2720	GLB1	HP:0000175	Cleft palate	2/7	OMIM:615777
2720	GLB1	HP:0000154	Wide mouth	-	OMIM:253010
2720	GLB1	HP:0008947	Floppy infant	HP:0040281	ORPHA:79255
2720	GLB1	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:253010
2720	GLB1	HP:0002753	Thin bony cortex	1/1	OMIM:230600
2720	GLB1	HP:0001433	Hepatosplenomegaly	HP:0040281	ORPHA:79255
2720	GLB1	HP:0002015	Dysphagia	1/1	OMIM:230600
2720	GLB1	HP:0002007	Frontal bossing	-	OMIM:230500
2720	GLB1	HP:0002007	Frontal bossing	HP:0040283	ORPHA:79255
2720	GLB1	HP:0003311	Hypoplasia of the odontoid process	14/19	OMIM:253010
2720	GLB1	HP:0003307	Hyperlordosis	-	OMIM:253010
2720	GLB1	HP:0003308	Cervical subluxation	-	OMIM:253010
2720	GLB1	HP:0003300	Ovoid vertebral bodies	-	OMIM:253010
2720	GLB1	HP:0002091	Restrictive ventilatory defect	-	OMIM:253010
2720	GLB1	HP:0002059	Cerebral atrophy	-	OMIM:230600
2720	GLB1	HP:0003388	Easy fatigability	36/76	OMIM:131300
2720	GLB1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2720	GLB1	HP:0008166	Decreased beta-galactosidase activity	-	OMIM:253010
2720	GLB1	HP:0008166	Decreased beta-galactosidase activity	3/3	OMIM:230650
2720	GLB1	HP:0008166	Decreased beta-galactosidase activity	-	OMIM:230500
2720	GLB1	HP:0008166	Decreased beta-galactosidase activity	1/1	OMIM:230600
2720	GLB1	HP:0008166	Decreased beta-galactosidase activity	HP:0040280	ORPHA:79255
2720	GLB1	HP:0002123	Generalized myoclonic seizure	-	OMIM:230600
2720	GLB1	HP:0002119	Ventriculomegaly	-	OMIM:230600
2720	GLB1	HP:0002119	Ventriculomegaly	2/3	OMIM:230650
2720	GLB1	HP:0002267	Exaggerated startle response	HP:0040282	ORPHA:79255
2720	GLB1	HP:0003593	Infantile onset	4/4	OMIM:230500
2720	GLB1	HP:0002240	Hepatomegaly	1/1	OMIM:230600
2720	GLB1	HP:0002240	Hepatomegaly	0/3	OMIM:230650
2720	GLB1	HP:0002240	Hepatomegaly	104/122	OMIM:230500
2720	GLB1	HP:0002240	Hepatomegaly	2/9	OMIM:253010
2720	GLB1	HP:0003541	Urinary glycosaminoglycan excretion	HP:0040281	ORPHA:79255
2720	GLB1	HP:0010729	Cherry red spot of the macula	50/84	OMIM:230500
2720	GLB1	HP:0010729	Cherry red spot of the macula	0/3	OMIM:230650
2720	GLB1	HP:0010729	Cherry red spot of the macula	HP:0040282	ORPHA:79255
2720	GLB1	HP:0100767	Abnormal placenta morphology	HP:0040283	ORPHA:79255
2720	GLB1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:79255
2720	GLB1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:79255
2720	GLB1	HP:0003510	Severe short stature	7/7	OMIM:615777
2720	GLB1	HP:0003510	Severe short stature	-	OMIM:230500
2720	GLB1	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:253010
2720	GLB1	HP:0025013	Decerebrate rigidity	HP:0040283	ORPHA:79255
2720	GLB1	HP:0002376	Developmental regression	HP:0040281	ORPHA:79255
2720	GLB1	HP:0001007	Hirsutism	HP:0040283	ORPHA:79255
2720	GLB1	HP:0003651	Foam cells	-	OMIM:230650
2720	GLB1	HP:0002318	Cervical myelopathy	-	OMIM:253010
2720	GLB1	HP:0002315	Headache	-	OMIM:131300
2720	GLB1	HP:0004976	Knee dislocation	6/7	OMIM:615777
2720	GLB1	HP:0007204	Diffuse white matter abnormalities	HP:0040282	ORPHA:79255
2720	GLB1	HP:0009826	Limb undergrowth	1/1	OMIM:230600
2720	GLB1	HP:0010808	Protruding tongue	1/1	OMIM:230600
2720	GLB1	HP:0001072	Thickened skin	HP:0040283	ORPHA:79255
2720	GLB1	HP:0001071	Angiokeratoma corporis diffusum	-	OMIM:230500
2720	GLB1	HP:0009803	Short phalanx of finger	-	OMIM:615777
2720	GLB1	HP:0008479	Hypoplastic vertebral bodies	-	OMIM:230500
2720	GLB1	HP:0008479	Hypoplastic vertebral bodies	1/1	OMIM:230600
2720	GLB1	HP:0008479	Hypoplastic vertebral bodies	HP:0040283	ORPHA:79255
2720	GLB1	HP:0008430	Anterior beaking of lumbar vertebrae	-	OMIM:230650
2720	GLB1	HP:0009763	Limb pain	63/92	OMIM:131300
2720	GLB1	HP:0003621	Juvenile onset	-	OMIM:131300
2720	GLB1	HP:0003621	Juvenile onset	-	OMIM:253010
2720	GLB1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2720	GLB1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2720	GLB1	HP:6001056	Out-toeing	-	OMIM:131300
2720	GLB1	HP:0001982	Sea-blue histiocytosis	-	OMIM:230600
2720	GLB1	HP:0000651	Diplopia	-	OMIM:131300
2720	GLB1	HP:0000648	Optic atrophy	-	OMIM:230600
2720	GLB1	HP:0000618	Blindness	HP:0040281	ORPHA:79255
2720	GLB1	HP:0001956	Truncal obesity	2/7	OMIM:615777
2720	GLB1	HP:0001922	Vacuolated lymphocytes	-	OMIM:230500
2720	GLB1	HP:0001903	Anemia	HP:0040283	OMIM:131300
2720	GLB1	HP:0010049	Short metacarpal	-	OMIM:615777
2720	GLB1	HP:0000683	Grayish enamel	-	OMIM:253010
2720	GLB1	HP:0000678	Dental crowding	-	OMIM:615777
2720	GLB1	HP:0000687	Widely spaced teeth	-	OMIM:253010
2720	GLB1	HP:0000670	Carious teeth	-	OMIM:131300
2720	GLB1	HP:0000670	Carious teeth	-	OMIM:253010
2720	GLB1	HP:0011304	Broad thumb	2/7	OMIM:615777
2720	GLB1	HP:0000668	Hypodontia	-	OMIM:615777
2720	GLB1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:79255
2720	GLB1	HP:0000664	Synophrys	-	OMIM:615777
2720	GLB1	HP:0004322	Short stature	-	OMIM:230650
2720	GLB1	HP:0005619	Thoracolumbar kyphosis	1/1	OMIM:230600
2720	GLB1	HP:0003053	Epiphyseal deformities of tubular bones	-	OMIM:253010
2720	GLB1	HP:0004396	Poor appetite	-	OMIM:131300
2720	GLB1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2720	GLB1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2720	GLB1	HP:0003049	Ulnar deviation of the wrist	-	OMIM:253010
2720	GLB1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2720	GLB1	HP:0003016	Metaphyseal widening	-	OMIM:253010
2720	GLB1	HP:0003026	Short long bone	HP:0040283	ORPHA:79255
2720	GLB1	HP:0003026	Short long bone	7/7	OMIM:615777
2720	GLB1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2720	GLB1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2720	GLB1	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:79255
2720	GLB1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2720	GLB1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2720	GLB1	HP:0000750	Delayed speech and language development	3/3	OMIM:230650
2720	GLB1	HP:0000750	Delayed speech and language development	-	OMIM:615777
2720	GLB1	HP:0000707	Abnormality of the nervous system	HP:0040281	ORPHA:79255
2720	GLB1	HP:0011463	Childhood onset	1/1	OMIM:230600
2720	GLB1	HP:0011463	Childhood onset	3/3	OMIM:230650
2720	GLB1	HP:0011461	Fetal onset	7/7	OMIM:615777
2720	GLB1	HP:0000774	Narrow chest	2/7	OMIM:615777
2720	GLB1	HP:0012753	T2 hypointense basal ganglia	HP:0040282	ORPHA:79255
2720	GLB1	HP:0000924	Abnormality of the skeletal system	HP:0040281	ORPHA:79255
2720	GLB1	HP:0000926	Platyspondyly	-	OMIM:230600
2720	GLB1	HP:0000926	Platyspondyly	2/9	OMIM:253010
2720	GLB1	HP:0000926	Platyspondyly	1/1	OMIM:230650
2720	GLB1	HP:0000926	Platyspondyly	HP:0040283	ORPHA:79255
2720	GLB1	HP:0000926	Platyspondyly	1/7	OMIM:615777
2720	GLB1	HP:0003180	Flat acetabular roof	-	OMIM:615777
2720	GLB1	HP:0000904	Flaring of rib cage	-	OMIM:253010
2720	GLB1	HP:0000900	Thickened ribs	-	OMIM:230500
2720	GLB1	HP:0004482	Relative macrocephaly	-	OMIM:615777
2720	GLB1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2720	GLB1	HP:0000884	Prominent sternum	-	OMIM:253010
2720	GLB1	HP:0003090	Hypoplasia of the capital femoral epiphysis	4/9	OMIM:253010
2720	GLB1	HP:0000823	Delayed puberty	-	OMIM:131300
2720	GLB1	HP:0000894	Short clavicles	-	OMIM:615777
2720	GLB1	HP:0004562	Beaking of vertebral bodies T12-L3	HP:0040283	ORPHA:79255
2720	GLB1	HP:0004568	Beaking of vertebral bodies	-	OMIM:230500
2720	GLB1	HP:0004568	Beaking of vertebral bodies	1/1	OMIM:230600
2720	GLB1	HP:0003202	Skeletal muscle atrophy	-	OMIM:230650
2720	GLB1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2720	GLB1	HP:0003277	Constricted iliac wing	-	OMIM:253010
2720	GLB1	HP:0003274	Hypoplastic acetabulae	-	OMIM:230650
2720	GLB1	HP:0000998	Hypertrichosis	-	OMIM:230500
2720	GLB1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2720	GLB1	HP:0000939	Osteoporosis	-	OMIM:253010
2720	GLB1	HP:0033044	Motor regression	1/1	OMIM:230600
2720	GLB1	HP:0000943	Dysostosis multiplex	4/4	OMIM:230500
2720	GLB1	HP:0000943	Dysostosis multiplex	1/1	OMIM:230600
2720	GLB1	HP:0000943	Dysostosis multiplex	6/9	OMIM:253010
2720	GLB1	HP:0000943	Dysostosis multiplex	HP:0040282	ORPHA:79255
2720	GLB1	HP:0000286	Epicanthus	1/7	OMIM:615777
2720	GLB1	HP:0000280	Coarse facial features	1/1	OMIM:230600
2720	GLB1	HP:0000280	Coarse facial features	6/9	OMIM:253010
2720	GLB1	HP:0000280	Coarse facial features	0/3	OMIM:230650
2720	GLB1	HP:0000280	Coarse facial features	4/4	OMIM:230500
2720	GLB1	HP:0000280	Coarse facial features	2/7	OMIM:615777
2720	GLB1	HP:0007759	Opacification of the corneal stroma	-	OMIM:230650
2720	GLB1	HP:0007759	Opacification of the corneal stroma	-	OMIM:253010
2720	GLB1	HP:0002827	Hip dislocation	3/7	OMIM:615777
2720	GLB1	HP:0002808	Kyphosis	1/1	OMIM:230650
2720	GLB1	HP:0002808	Kyphosis	-	OMIM:230500
2720	GLB1	HP:0002808	Kyphosis	3/9	OMIM:253010
2720	GLB1	HP:0006371	Broad long bone diaphyses	HP:0040283	ORPHA:79255
2720	GLB1	HP:0000252	Microcephaly	-	OMIM:615777
2720	GLB1	HP:0000212	Gingival overgrowth	1/1	OMIM:230600
2720	GLB1	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:79255
2720	GLB1	HP:0000212	Gingival overgrowth	-	OMIM:230500
2720	GLB1	HP:0002857	Genu valgum	-	OMIM:131300
2720	GLB1	HP:0002857	Genu valgum	4/9	OMIM:253010
2720	GLB1	HP:0001522	Death in infancy	-	OMIM:230500
2720	GLB1	HP:0002869	Flared iliac wing	-	OMIM:230650
2720	GLB1	HP:0002869	Flared iliac wing	HP:0040283	ORPHA:79255
2720	GLB1	HP:0001533	Slender build	-	OMIM:131300
2720	GLB1	HP:0001508	Failure to thrive	1/1	OMIM:230600
2720	GLB1	HP:0001511	Intrauterine growth retardation	2/130	OMIM:230500
2720	GLB1	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:79255
2720	GLB1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2720	GLB1	HP:0007807	Optic nerve compression	-	OMIM:131300
2720	GLB1	HP:0012368	Flat face	1/1	OMIM:230600
2720	GLB1	HP:0012368	Flat face	7/7	OMIM:615777
2720	GLB1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2720	GLB1	HP:0000365	Hearing impairment	10/67	OMIM:131300
2720	GLB1	HP:0000365	Hearing impairment	-	OMIM:253010
2720	GLB1	HP:0000365	Hearing impairment	HP:0040281	ORPHA:79255
2720	GLB1	HP:0000369	Low-set ears	HP:0040283	ORPHA:79255
2720	GLB1	HP:0000343	Long philtrum	HP:0040283	ORPHA:79255
2720	GLB1	HP:0000343	Long philtrum	1/7	OMIM:615777
2720	GLB1	HP:0011001	Increased bone mineral density	-	OMIM:131300
2720	GLB1	HP:0001650	Aortic valve stenosis	-	OMIM:253010
2720	GLB1	HP:0012307	Spatulate ribs	HP:0040283	ORPHA:79255
2720	GLB1	HP:0000316	Hypertelorism	-	OMIM:230500
2720	GLB1	HP:0001643	Patent ductus arteriosus	1/1	OMIM:230600
2720	GLB1	HP:0000311	Round face	2/7	OMIM:615777
2720	GLB1	HP:0001644	Dilated cardiomyopathy	-	OMIM:230500
2720	GLB1	HP:0001654	Abnormal heart valve morphology	-	OMIM:230500
2720	GLB1	HP:0001653	Mitral regurgitation	5/9	OMIM:253010
2720	GLB1	HP:0001622	Premature birth	1/1	OMIM:230600
2720	GLB1	HP:0002970	Genu varum	-	OMIM:615777
2720	GLB1	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:230500
2720	GLB1	HP:0001635	Congestive heart failure	-	OMIM:230500
2720	GLB1	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:79255
2720	GLB1	HP:0000303	Mandibular prognathia	-	OMIM:131300
2720	GLB1	HP:0000303	Mandibular prognathia	-	OMIM:253010
2720	GLB1	HP:0007957	Corneal opacity	3/9	OMIM:253010
2720	GLB1	HP:0000400	Macrotia	HP:0040283	ORPHA:79255
2720	GLB1	HP:0005292	Intimal thickening in the coronary arteries	-	OMIM:253010
2720	GLB1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:79255
2720	GLB1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2720	GLB1	HP:0001789	Hydrops fetalis	HP:0040283	ORPHA:79255
2720	GLB1	HP:0001789	Hydrops fetalis	8/130	OMIM:230500
2720	GLB1	HP:0000455	Broad nasal tip	HP:0040283	ORPHA:79255
2720	GLB1	HP:0000457	Depressed nasal ridge	-	OMIM:230500
2720	GLB1	HP:0000470	Short neck	-	OMIM:230500
2720	GLB1	HP:0000470	Short neck	1/7	OMIM:615777
2720	GLB1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2720	GLB1	HP:0001763	Pes planus	1/7	OMIM:615777
2720	GLB1	HP:0001776	Bilateral talipes equinovarus	2/9	OMIM:253010
2720	GLB1	HP:0001744	Splenomegaly	0/1	OMIM:230600
2720	GLB1	HP:0001744	Splenomegaly	0/3	OMIM:230650
2720	GLB1	HP:0001744	Splenomegaly	104/122	OMIM:230500
2720	GLB1	HP:0001761	Pes cavus	1/3	OMIM:230650
2720	GLB1	HP:3000050	Abnormal odontoid tissue morphology	HP:0040283	ORPHA:79255
2720	GLB1	HP:0001840	Metatarsus adductus	-	OMIM:615777
2720	GLB1	HP:0000520	Proptosis	2/4	OMIM:131300
2720	GLB1	HP:0000520	Proptosis	7/7	OMIM:615777
2720	GLB1	HP:0000592	Blue sclerae	2/7	OMIM:615777
2720	GLB1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2720	GLB1	HP:0012514	Lower limb pain	4/4	OMIM:131300
2729	GCLC	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
2729	GCLC	HP:0001271	Polyneuropathy	0/1	OMIM:230450
2729	GCLC	HP:0001251	Ataxia	HP:0040283	ORPHA:33574
2729	GCLC	HP:0001249	Intellectual disability	HP:0040283	ORPHA:33574
2729	GCLC	HP:0001260	Dysarthria	HP:0040283	ORPHA:33574
2729	GCLC	HP:0001263	Global developmental delay	HP:0040283	ORPHA:33574
2729	GCLC	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
2729	GCLC	HP:0002503	Spinocerebellar tract degeneration	HP:0040281	ORPHA:33574
2729	GCLC	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
2729	GCLC	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
2729	GCLC	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
2729	GCLC	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:33574
2729	GCLC	HP:0000007	Autosomal recessive inheritance	1/1	OMIM:230450
2729	GCLC	HP:6000834	Elevated urinary gamma-glutamylcysteine level	-	OMIM:230450
2729	GCLC	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:230450
2729	GCLC	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
2729	GCLC	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:33574
2729	GCLC	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
2729	GCLC	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
2729	GCLC	HP:0003355	Aminoaciduria	HP:0040281	ORPHA:33574
2729	GCLC	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
2729	GCLC	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
2729	GCLC	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
2729	GCLC	HP:0002099	Asthma	HP:0040283	ORPHA:586
2729	GCLC	HP:6000132	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity	3/3	OMIM:230450
2729	GCLC	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
2729	GCLC	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
2729	GCLC	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
2729	GCLC	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
2729	GCLC	HP:0010522	Dyslexia	HP:0040283	ORPHA:33574
2729	GCLC	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
2729	GCLC	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:33574
2729	GCLC	HP:0001923	Reticulocytosis	HP:0040283	ORPHA:33574
2729	GCLC	HP:0001923	Reticulocytosis	1/1	OMIM:230450
2729	GCLC	HP:0000739	Anxiety	HP:0040283	ORPHA:586
2729	GCLC	HP:0000716	Depression	HP:0040283	ORPHA:586
2729	GCLC	HP:0000709	Psychosis	HP:0040283	ORPHA:33574
2729	GCLC	HP:0006904	Late-onset spinocerebellar degeneration	-	OMIM:230450
2729	GCLC	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
2729	GCLC	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
2729	GCLC	HP:0003198	Myopathy	HP:0040281	ORPHA:33574
2729	GCLC	HP:0003198	Myopathy	0/1	OMIM:230450
2729	GCLC	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
2729	GCLC	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
2729	GCLC	HP:0003251	Male infertility	HP:0040282	ORPHA:586
2729	GCLC	HP:0000952	Jaundice	HP:0040283	ORPHA:33574
2729	GCLC	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
2729	GCLC	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
2729	GCLC	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
2729	GCLC	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
2729	GCLC	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
2729	GCLC	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
2729	GCLC	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
2729	GCLC	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
2729	GCLC	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
2729	GCLC	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
2729	GCLC	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
2729	GCLC	HP:0001878	Hemolytic anemia	1/1	OMIM:230450
2729	GCLC	HP:0001878	Hemolytic anemia	HP:0040280	ORPHA:33574
2731	GLDC	HP:0001298	Encephalopathy	-	OMIM:605899
2731	GLDC	HP:0001290	Generalized hypotonia	-	OMIM:605899
2731	GLDC	HP:0001274	Agenesis of corpus callosum	-	OMIM:605899
2731	GLDC	HP:0001254	Lethargy	-	OMIM:605899
2731	GLDC	HP:0001250	Seizure	-	OMIM:605899
2731	GLDC	HP:0001252	Hypotonia	-	OMIM:605899
2731	GLDC	HP:0001249	Intellectual disability	-	OMIM:605899
2731	GLDC	HP:0001265	Hyporeflexia	-	OMIM:605899
2731	GLDC	HP:0001347	Hyperreflexia	-	OMIM:605899
2731	GLDC	HP:0000007	Autosomal recessive inheritance	-	OMIM:605899
2731	GLDC	HP:0001336	Myoclonus	-	OMIM:605899
2731	GLDC	HP:0002154	Hyperglycinemia	-	OMIM:605899
2731	GLDC	HP:0100710	Impulsivity	-	OMIM:605899
2731	GLDC	HP:0000752	Hyperactivity	-	OMIM:605899
2731	GLDC	HP:0000737	Irritability	-	OMIM:605899
2731	GLDC	HP:0000718	Aggressive behavior	-	OMIM:605899
2731	GLDC	HP:0000711	Restlessness	-	OMIM:605899
2731	GLDC	HP:0003108	Hyperglycinuria	-	OMIM:605899
2731	GLDC	HP:0100247	Recurrent singultus	-	OMIM:605899
2731	GLDC	HP:0001522	Death in infancy	-	OMIM:605899
2733	GLE1	HP:0001188	Hand clenching	-	OMIM:611890
2733	GLE1	HP:0002463	Language impairment	HP:0040283	ORPHA:803
2733	GLE1	HP:0007277	Paucity of anterior horn motor neurons	-	OMIM:611890
2733	GLE1	HP:0007277	Paucity of anterior horn motor neurons	-	OMIM:253310
2733	GLE1	HP:0001290	Generalized hypotonia	-	OMIM:611890
2733	GLE1	HP:0001270	Motor delay	-	OMIM:611890
2733	GLE1	HP:0001288	Gait disturbance	-	OMIM:611890
2733	GLE1	HP:0001250	Seizure	HP:0040284	OMIM:611890
2733	GLE1	HP:0001260	Dysarthria	-	OMIM:611890
2733	GLE1	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
2733	GLE1	HP:0001257	Spasticity	HP:0040282	ORPHA:803
2733	GLE1	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
2733	GLE1	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
2733	GLE1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
2733	GLE1	HP:0002540	Inability to walk	-	OMIM:611890
2733	GLE1	HP:0002522	Areflexia of lower limbs	-	OMIM:611890
2733	GLE1	HP:0003828	Variable expressivity	-	OMIM:611890
2733	GLE1	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
2733	GLE1	HP:0003811	Neonatal death	-	OMIM:253310
2733	GLE1	HP:0003811	Neonatal death	-	OMIM:611890
2733	GLE1	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:1486
2733	GLE1	HP:0001385	Hip dysplasia	-	OMIM:611890
2733	GLE1	HP:0001349	Facial diplegia	-	OMIM:611890
2733	GLE1	HP:0001348	Brisk reflexes	-	OMIM:611890
2733	GLE1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
2733	GLE1	HP:0000028	Cryptorchidism	-	OMIM:611890
2733	GLE1	HP:0001332	Dystonia	HP:0040284	OMIM:611890
2733	GLE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:253310
2733	GLE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:611890
2733	GLE1	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
2733	GLE1	HP:0002650	Scoliosis	-	OMIM:611890
2733	GLE1	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
2733	GLE1	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
2733	GLE1	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:1486
2733	GLE1	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:611890
2733	GLE1	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
2733	GLE1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:1486
2733	GLE1	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
2733	GLE1	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:1486
2733	GLE1	HP:0002089	Pulmonary hypoplasia	-	OMIM:253310
2733	GLE1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
2733	GLE1	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
2733	GLE1	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
2733	GLE1	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
2733	GLE1	HP:0002058	Myopathic facies	-	OMIM:611890
2733	GLE1	HP:0002059	Cerebral atrophy	HP:0040284	OMIM:611890
2733	GLE1	HP:0003477	Peripheral axonal neuropathy	-	OMIM:611890
2733	GLE1	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
2733	GLE1	HP:0003470	Paralysis	HP:0040282	ORPHA:803
2733	GLE1	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
2733	GLE1	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
2733	GLE1	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
2733	GLE1	HP:0003577	Congenital onset	-	OMIM:611890
2733	GLE1	HP:0011968	Feeding difficulties	-	OMIM:611890
2733	GLE1	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
2733	GLE1	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
2733	GLE1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
2733	GLE1	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
2733	GLE1	HP:0009811	Abnormality of the elbow	HP:0040282	ORPHA:1486
2733	GLE1	HP:0009775	Amniotic constriction ring	HP:0040282	ORPHA:1486
2733	GLE1	HP:0002300	Mutism	-	OMIM:611890
2733	GLE1	HP:0002307	Drooling	HP:0040282	ORPHA:803
2733	GLE1	HP:0006802	Abnormal anterior horn cell morphology	-	OMIM:611890
2733	GLE1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
2733	GLE1	HP:0009004	Hypoplasia of the musculature	-	OMIM:253310
2733	GLE1	HP:0001989	Fetal akinesia sequence	-	OMIM:611890
2733	GLE1	HP:0004322	Short stature	HP:0040281	ORPHA:1486
2733	GLE1	HP:0004326	Cachexia	HP:0040283	ORPHA:803
2733	GLE1	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
2733	GLE1	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:1486
2733	GLE1	HP:0000765	Abnormal thorax morphology	-	OMIM:253310
2733	GLE1	HP:0000739	Anxiety	HP:0040282	ORPHA:803
2733	GLE1	HP:0000716	Depression	HP:0040282	ORPHA:803
2733	GLE1	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
2733	GLE1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
2733	GLE1	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
2733	GLE1	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:1486
2733	GLE1	HP:0003100	Slender long bone	HP:0040282	ORPHA:1486
2733	GLE1	HP:0004571	Widening of cervical spinal canal	-	OMIM:253310
2733	GLE1	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
2733	GLE1	HP:0003202	Skeletal muscle atrophy	-	OMIM:611890
2733	GLE1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
2733	GLE1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:1486
2733	GLE1	HP:0003202	Skeletal muscle atrophy	-	OMIM:253310
2733	GLE1	HP:0003272	Abnormal hip bone morphology	HP:0040281	ORPHA:1486
2733	GLE1	HP:0000954	Single transverse palmar crease	-	OMIM:611890
2733	GLE1	HP:0000969	Edema	-	OMIM:253310
2733	GLE1	HP:0000278	Retrognathia	-	OMIM:611890
2733	GLE1	HP:0002808	Kyphosis	-	OMIM:611890
2733	GLE1	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:253310
2733	GLE1	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:611890
2733	GLE1	HP:0000252	Microcephaly	HP:0040284	OMIM:611890
2733	GLE1	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
2733	GLE1	HP:0002878	Respiratory failure	-	OMIM:611890
2733	GLE1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
2733	GLE1	HP:0000218	High palate	-	OMIM:611890
2733	GLE1	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:1486
2733	GLE1	HP:0001560	Abnormality of the amniotic fluid	-	OMIM:253310
2733	GLE1	HP:0012378	Fatigue	HP:0040282	ORPHA:803
2733	GLE1	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
2733	GLE1	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
2733	GLE1	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
2733	GLE1	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
2733	GLE1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1486
2733	GLE1	HP:0000369	Low-set ears	-	OMIM:611890
2733	GLE1	HP:0000347	Micrognathia	HP:0040281	ORPHA:1486
2733	GLE1	HP:0000347	Micrognathia	-	OMIM:253310
2733	GLE1	HP:0000347	Micrognathia	-	OMIM:611890
2733	GLE1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1486
2733	GLE1	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
2733	GLE1	HP:0000494	Downslanted palpebral fissures	-	OMIM:611890
2733	GLE1	HP:0000470	Short neck	-	OMIM:611890
2733	GLE1	HP:0000470	Short neck	HP:0040282	ORPHA:1486
2733	GLE1	HP:0000465	Webbed neck	HP:0040282	ORPHA:1486
2733	GLE1	HP:0001762	Talipes equinovarus	-	OMIM:611890
2733	GLE1	HP:0001824	Weight loss	HP:0040282	ORPHA:803
2733	GLE1	HP:0001838	Rocker bottom foot	-	OMIM:611890
2733	GLE1	HP:0000508	Ptosis	-	OMIM:611890
2733	GLE1	HP:0011220	Prominent forehead	-	OMIM:611890
2733	GLE1	HP:0012531	Pain	HP:0040282	ORPHA:803
2733	GLE1	HP:0000545	Myopia	-	OMIM:611890
2735	GLI1	HP:0001177	Preaxial hand polydactyly	-	OMIM:174400
2735	GLI1	HP:0002488	Acute leukemia	HP:0040283	ORPHA:289
2735	GLI1	HP:0001161	Hand polydactyly	HP:0040281	ORPHA:289
2735	GLI1	HP:0009944	Partial duplication of thumb phalanx	-	OMIM:174400
2735	GLI1	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:289
2735	GLI1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:289
2735	GLI1	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:289
2735	GLI1	HP:0001241	Capitate-hamate fusion	HP:0040282	ORPHA:289
2735	GLI1	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:289
2735	GLI1	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:289
2735	GLI1	HP:0000072	Hydroureter	HP:0040283	ORPHA:289
2735	GLI1	HP:0000069	Abnormality of the ureter	HP:0040282	ORPHA:289
2735	GLI1	HP:0000039	Epispadias	HP:0040282	ORPHA:289
2735	GLI1	HP:0000047	Hypospadias	HP:0040282	ORPHA:289
2735	GLI1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:289
2735	GLI1	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:289
2735	GLI1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618123
2735	GLI1	HP:0000007	Autosomal recessive inheritance	-	OMIM:174400
2735	GLI1	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040282	ORPHA:289
2735	GLI1	HP:0008921	Neonatal short-limb short stature	HP:0040281	ORPHA:289
2735	GLI1	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:289
2735	GLI1	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:289
2735	GLI1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:289
2735	GLI1	HP:0002097	Emphysema	HP:0040283	ORPHA:289
2735	GLI1	HP:0002164	Nail dysplasia	1/10	OMIM:618123
2735	GLI1	HP:0002164	Nail dysplasia	HP:0040281	ORPHA:289
2735	GLI1	HP:0011830	Abnormal oral mucosa morphology	HP:0040281	ORPHA:289
2735	GLI1	HP:0003577	Congenital onset	10/10	OMIM:618123
2735	GLI1	HP:0005561	Abnormal bone marrow cell morphology	HP:0040283	ORPHA:289
2735	GLI1	HP:0011362	Abnormal hair quantity	HP:0040283	ORPHA:289
2735	GLI1	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:289
2735	GLI1	HP:0000691	Microdontia	HP:0040282	ORPHA:289
2735	GLI1	HP:0000668	Hypodontia	HP:0040282	ORPHA:289
2735	GLI1	HP:0004322	Short stature	3/10	OMIM:618123
2735	GLI1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:289
2735	GLI1	HP:0000774	Narrow chest	HP:0040281	ORPHA:289
2735	GLI1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:289
2735	GLI1	HP:0005895	Radial deviation of thumb terminal phalanx	-	OMIM:174400
2735	GLI1	HP:0100259	Postaxial polydactyly	-	OMIM:618123
2735	GLI1	HP:0010306	Short thorax	HP:0040281	ORPHA:289
2735	GLI1	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:289
2735	GLI1	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:289
2735	GLI1	HP:0005048	Synostosis of carpal bones	HP:0040283	ORPHA:289
2735	GLI1	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:289
2735	GLI1	HP:0002857	Genu valgum	HP:0040281	ORPHA:289
2735	GLI1	HP:0002857	Genu valgum	2/10	OMIM:618123
2735	GLI1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:289
2735	GLI1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:289
2735	GLI1	HP:0011065	Conical incisor	HP:0040282	ORPHA:289
2735	GLI1	HP:0001696	Situs inversus totalis	HP:0040282	ORPHA:289
2735	GLI1	HP:0002983	Micromelia	HP:0040281	ORPHA:289
2735	GLI1	HP:0001651	Dextrocardia	HP:0040282	ORPHA:289
2735	GLI1	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:289
2735	GLI1	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:289
2735	GLI1	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:289
2735	GLI1	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:289
2735	GLI1	HP:0006695	Atrioventricular canal defect	HP:0040281	ORPHA:289
2735	GLI1	HP:0000486	Strabismus	HP:0040282	ORPHA:289
2735	GLI1	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040282	ORPHA:289
2735	GLI1	HP:0001829	Foot polydactyly	HP:0040281	ORPHA:289
2735	GLI1	HP:0001800	Hypoplastic toenails	HP:0040281	ORPHA:289
2736	GLI2	HP:0001162	Postaxial hand polydactyly	2/11	OMIM:610829
2736	GLI2	HP:0100960	Lateral ventricular asymmetry	1/4	OMIM:610829
2736	GLI2	HP:0002465	Poor speech	HP:0040283	ORPHA:93926
2736	GLI2	HP:0002465	Poor speech	HP:0040282	ORPHA:93924
2736	GLI2	HP:0002465	Poor speech	HP:0040283	ORPHA:93925
2736	GLI2	HP:0002465	Poor speech	HP:0040283	ORPHA:220386
2736	GLI2	HP:0002474	Expressive language delay	HP:0040282	ORPHA:280195
2736	GLI2	HP:0002436	Occipital meningocele	1/4	OMIM:610829
2736	GLI2	HP:0002451	Limb dystonia	HP:0040282	ORPHA:220386
2736	GLI2	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93926
2736	GLI2	HP:0002451	Limb dystonia	HP:0040283	ORPHA:93924
2736	GLI2	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93925
2736	GLI2	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:220386
2736	GLI2	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93926
2736	GLI2	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:93924
2736	GLI2	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93925
2736	GLI2	HP:0009932	Single naris	2/11	OMIM:610829
2736	GLI2	HP:0009932	Single naris	HP:0040283	ORPHA:220386
2736	GLI2	HP:0009932	Single naris	HP:0040283	ORPHA:93926
2736	GLI2	HP:0009932	Single naris	HP:0040284	ORPHA:93924
2736	GLI2	HP:0009932	Single naris	HP:0040283	ORPHA:93925
2736	GLI2	HP:0009914	Cyclopia	HP:0040283	ORPHA:280200
2736	GLI2	HP:0009914	Cyclopia	HP:0040283	ORPHA:220386
2736	GLI2	HP:0009914	Cyclopia	HP:0040283	ORPHA:93926
2736	GLI2	HP:0009914	Cyclopia	HP:0040284	ORPHA:93924
2736	GLI2	HP:0009914	Cyclopia	HP:0040283	ORPHA:93925
2736	GLI2	HP:0010864	Intellectual disability, severe	1/4	OMIM:610829
2736	GLI2	HP:0009888	Abnormality of secondary sexual hair	HP:0040282	ORPHA:95494
2736	GLI2	HP:0002418	Abnormal midbrain morphology	HP:0040282	ORPHA:280195
2736	GLI2	HP:0003745	Sporadic	-	OMIM:610829
2736	GLI2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2736	GLI2	HP:0001293	Cranial nerve compression	-	OMIM:131300
2736	GLI2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:280195
2736	GLI2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280200
2736	GLI2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93926
2736	GLI2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93924
2736	GLI2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93925
2736	GLI2	HP:0001274	Agenesis of corpus callosum	HP:0040284	ORPHA:95494
2736	GLI2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220386
2736	GLI2	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:280195
2736	GLI2	HP:0001254	Lethargy	HP:0040282	ORPHA:93926
2736	GLI2	HP:0001254	Lethargy	HP:0040283	ORPHA:93924
2736	GLI2	HP:0001254	Lethargy	HP:0040282	ORPHA:93925
2736	GLI2	HP:0001254	Lethargy	HP:0040282	ORPHA:220386
2736	GLI2	HP:0001250	Seizure	-	OMIM:610829
2736	GLI2	HP:0001250	Seizure	HP:0040284	ORPHA:95494
2736	GLI2	HP:0001250	Seizure	HP:0040282	ORPHA:220386
2736	GLI2	HP:0001250	Seizure	HP:0040283	ORPHA:280200
2736	GLI2	HP:0001250	Seizure	HP:0040282	ORPHA:93926
2736	GLI2	HP:0001250	Seizure	HP:0040283	ORPHA:93924
2736	GLI2	HP:0001250	Seizure	HP:0040282	ORPHA:93925
2736	GLI2	HP:0001252	Hypotonia	2/7	OMIM:615777
2736	GLI2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280195
2736	GLI2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:220386
2736	GLI2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280200
2736	GLI2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93926
2736	GLI2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93924
2736	GLI2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93925
2736	GLI2	HP:0001249	Intellectual disability	5/7	OMIM:615777
2736	GLI2	HP:0001263	Global developmental delay	-	OMIM:610829
2736	GLI2	HP:0001263	Global developmental delay	HP:0040283	OMIM:615849
2736	GLI2	HP:0001263	Global developmental delay	-	OMIM:615777
2736	GLI2	HP:0001257	Spasticity	HP:0040282	ORPHA:93926
2736	GLI2	HP:0001257	Spasticity	HP:0040283	ORPHA:93924
2736	GLI2	HP:0001257	Spasticity	HP:0040282	ORPHA:93925
2736	GLI2	HP:0001257	Spasticity	HP:0040282	ORPHA:220386
2736	GLI2	HP:0100842	Septo-optic dysplasia	HP:0040284	ORPHA:95494
2736	GLI2	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:95494
2736	GLI2	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:280200
2736	GLI2	HP:0007375	Abnormal septum pellucidum morphology	HP:0040283	ORPHA:280195
2736	GLI2	HP:0007330	Frontoethmoidal encephalocele	HP:0040283	ORPHA:280195
2736	GLI2	HP:0002540	Inability to walk	HP:0040282	ORPHA:93926
2736	GLI2	HP:0002540	Inability to walk	HP:0040284	ORPHA:93924
2736	GLI2	HP:0002540	Inability to walk	HP:0040282	ORPHA:93925
2736	GLI2	HP:0002540	Inability to walk	HP:0040282	ORPHA:220386
2736	GLI2	HP:0002536	Abnormal cortical gyration	-	OMIM:610829
2736	GLI2	HP:0002515	Waddling gait	54/102	OMIM:131300
2736	GLI2	HP:0003828	Variable expressivity	-	OMIM:615849
2736	GLI2	HP:0003829	Typified by incomplete penetrance	-	OMIM:610829
2736	GLI2	HP:0003829	Typified by incomplete penetrance	-	OMIM:615849
2736	GLI2	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:280200
2736	GLI2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:95494
2736	GLI2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93926
2736	GLI2	HP:0001371	Flexion contracture	HP:0040284	ORPHA:93924
2736	GLI2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93925
2736	GLI2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:220386
2736	GLI2	HP:0000054	Micropenis	-	OMIM:610829
2736	GLI2	HP:0000054	Micropenis	-	OMIM:615849
2736	GLI2	HP:0001382	Joint hypermobility	-	OMIM:615777
2736	GLI2	HP:0001355	Megalencephaly	HP:0040283	ORPHA:280195
2736	GLI2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2736	GLI2	HP:0001360	Holoprosencephaly	-	OMIM:610829
2736	GLI2	HP:0001360	Holoprosencephaly	HP:0040284	ORPHA:95494
2736	GLI2	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:280200
2736	GLI2	HP:0000028	Cryptorchidism	-	OMIM:610829
2736	GLI2	HP:0000028	Cryptorchidism	-	OMIM:615849
2736	GLI2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2736	GLI2	HP:0001331	Absent septum pellucidum	HP:0040284	ORPHA:95494
2736	GLI2	HP:0033725	Thin corpus callosum	1/4	OMIM:610829
2736	GLI2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93926
2736	GLI2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93924
2736	GLI2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93925
2736	GLI2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:280195
2736	GLI2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:220386
2736	GLI2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2736	GLI2	HP:0001324	Muscle weakness	40/96	OMIM:131300
2736	GLI2	HP:0001344	Absent speech	HP:0040282	ORPHA:93926
2736	GLI2	HP:0001344	Absent speech	HP:0040284	ORPHA:93924
2736	GLI2	HP:0001344	Absent speech	HP:0040282	ORPHA:93925
2736	GLI2	HP:0001344	Absent speech	HP:0040282	ORPHA:220386
2736	GLI2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2736	GLI2	HP:0001338	Partial agenesis of the corpus callosum	12/14	OMIM:610829
2736	GLI2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2736	GLI2	HP:0000006	Autosomal dominant inheritance	-	OMIM:615849
2736	GLI2	HP:0000006	Autosomal dominant inheritance	-	OMIM:610829
2736	GLI2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2736	GLI2	HP:0002650	Scoliosis	HP:0040283	ORPHA:93926
2736	GLI2	HP:0002650	Scoliosis	HP:0040283	ORPHA:93924
2736	GLI2	HP:0002650	Scoliosis	HP:0040283	ORPHA:93925
2736	GLI2	HP:0002650	Scoliosis	HP:0040283	ORPHA:220386
2736	GLI2	HP:0002650	Scoliosis	HP:0040283	ORPHA:280200
2736	GLI2	HP:0002650	Scoliosis	12/14	OMIM:131300
2736	GLI2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2736	GLI2	HP:0002615	Hypotension	HP:0040282	ORPHA:95494
2736	GLI2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2736	GLI2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2736	GLI2	HP:0000179	Thick lower lip vermilion	1/4	OMIM:610829
2736	GLI2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2736	GLI2	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93926
2736	GLI2	HP:0000193	Bifid uvula	HP:0040283	ORPHA:93924
2736	GLI2	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93925
2736	GLI2	HP:0000193	Bifid uvula	HP:0040282	ORPHA:220386
2736	GLI2	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:220386
2736	GLI2	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93926
2736	GLI2	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93924
2736	GLI2	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93925
2736	GLI2	HP:0000175	Cleft palate	HP:0040283	ORPHA:280200
2736	GLI2	HP:0000175	Cleft palate	HP:0040282	ORPHA:93926
2736	GLI2	HP:0000175	Cleft palate	HP:0040282	ORPHA:93924
2736	GLI2	HP:0000175	Cleft palate	HP:0040282	ORPHA:93925
2736	GLI2	HP:0000175	Cleft palate	-	OMIM:610829
2736	GLI2	HP:0000175	Cleft palate	HP:0040283	OMIM:615849
2736	GLI2	HP:0000175	Cleft palate	2/7	OMIM:615777
2736	GLI2	HP:0000175	Cleft palate	HP:0040282	ORPHA:220386
2736	GLI2	HP:0000141	Amenorrhea	HP:0040282	ORPHA:95494
2736	GLI2	HP:0000135	Hypogonadism	-	OMIM:615849
2736	GLI2	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:280200
2736	GLI2	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:220386
2736	GLI2	HP:0006315	Solitary median maxillary central incisor	1/11	OMIM:610829
2736	GLI2	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93926
2736	GLI2	HP:0006315	Solitary median maxillary central incisor	HP:0040284	ORPHA:93924
2736	GLI2	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93925
2736	GLI2	HP:0008947	Floppy infant	HP:0040282	ORPHA:93926
2736	GLI2	HP:0008947	Floppy infant	HP:0040283	ORPHA:93924
2736	GLI2	HP:0008947	Floppy infant	HP:0040282	ORPHA:93925
2736	GLI2	HP:0008947	Floppy infant	HP:0040282	ORPHA:220386
2736	GLI2	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93926
2736	GLI2	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93924
2736	GLI2	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93925
2736	GLI2	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:220386
2736	GLI2	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:280195
2736	GLI2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:220386
2736	GLI2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93926
2736	GLI2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93924
2736	GLI2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93925
2736	GLI2	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:220386
2736	GLI2	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93926
2736	GLI2	HP:0002793	Abnormal pattern of respiration	HP:0040283	ORPHA:93924
2736	GLI2	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93925
2736	GLI2	HP:0000104	Renal agenesis	HP:0040283	ORPHA:280200
2736	GLI2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:95494
2736	GLI2	HP:0002714	Downturned corners of mouth	1/4	OMIM:610829
2736	GLI2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93926
2736	GLI2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93924
2736	GLI2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93925
2736	GLI2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220386
2736	GLI2	HP:0002019	Constipation	HP:0040282	ORPHA:93926
2736	GLI2	HP:0002019	Constipation	HP:0040282	ORPHA:93924
2736	GLI2	HP:0002019	Constipation	HP:0040282	ORPHA:93925
2736	GLI2	HP:0002019	Constipation	HP:0040283	ORPHA:95494
2736	GLI2	HP:0002019	Constipation	HP:0040282	ORPHA:220386
2736	GLI2	HP:0002033	Poor suck	HP:0040281	ORPHA:93926
2736	GLI2	HP:0002033	Poor suck	HP:0040282	ORPHA:93924
2736	GLI2	HP:0002033	Poor suck	HP:0040281	ORPHA:93925
2736	GLI2	HP:0002033	Poor suck	HP:0040281	ORPHA:220386
2736	GLI2	HP:0002015	Dysphagia	HP:0040282	ORPHA:93926
2736	GLI2	HP:0002015	Dysphagia	HP:0040283	ORPHA:93924
2736	GLI2	HP:0002015	Dysphagia	HP:0040282	ORPHA:93925
2736	GLI2	HP:0002015	Dysphagia	HP:0040283	ORPHA:280195
2736	GLI2	HP:0002015	Dysphagia	HP:0040282	ORPHA:220386
2736	GLI2	HP:0002013	Vomiting	HP:0040282	ORPHA:93926
2736	GLI2	HP:0002013	Vomiting	HP:0040283	ORPHA:93924
2736	GLI2	HP:0002013	Vomiting	HP:0040282	ORPHA:93925
2736	GLI2	HP:0002013	Vomiting	HP:0040282	ORPHA:220386
2736	GLI2	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:220386
2736	GLI2	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93926
2736	GLI2	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040283	ORPHA:93924
2736	GLI2	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93925
2736	GLI2	HP:0004637	Decreased cervical spine mobility	HP:0040284	ORPHA:95494
2736	GLI2	HP:0005968	Temperature instability	HP:0040282	ORPHA:220386
2736	GLI2	HP:0005968	Temperature instability	HP:0040282	ORPHA:93926
2736	GLI2	HP:0005968	Temperature instability	HP:0040283	ORPHA:93924
2736	GLI2	HP:0005968	Temperature instability	HP:0040282	ORPHA:93925
2736	GLI2	HP:0011800	Midface retrusion	2/11	OMIM:610829
2736	GLI2	HP:0011800	Midface retrusion	HP:0040283	OMIM:615849
2736	GLI2	HP:0002099	Asthma	HP:0040283	ORPHA:280200
2736	GLI2	HP:0003388	Easy fatigability	36/76	OMIM:131300
2736	GLI2	HP:0010442	Polydactyly	HP:0040284	ORPHA:95494
2736	GLI2	HP:0011755	Ectopic posterior pituitary	HP:0040284	ORPHA:95494
2736	GLI2	HP:0011755	Ectopic posterior pituitary	-	OMIM:615849
2736	GLI2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2736	GLI2	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:95494
2736	GLI2	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:220386
2736	GLI2	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93926
2736	GLI2	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93924
2736	GLI2	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93925
2736	GLI2	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280195
2736	GLI2	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:280200
2736	GLI2	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:95494
2736	GLI2	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:220386
2736	GLI2	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93926
2736	GLI2	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93924
2736	GLI2	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93925
2736	GLI2	HP:0003577	Congenital onset	4/4	OMIM:610829
2736	GLI2	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93926
2736	GLI2	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:93924
2736	GLI2	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93925
2736	GLI2	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:220386
2736	GLI2	HP:0100710	Impulsivity	HP:0040282	ORPHA:280195
2736	GLI2	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:280200
2736	GLI2	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:220386
2736	GLI2	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93926
2736	GLI2	HP:0010654	Aplasia of the falx cerebri	HP:0040283	ORPHA:93924
2736	GLI2	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93925
2736	GLI2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93926
2736	GLI2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93924
2736	GLI2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93925
2736	GLI2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:220386
2736	GLI2	HP:0010644	Midnasal stenosis	HP:0040281	ORPHA:280200
2736	GLI2	HP:0010650	Hypoplasia of the premaxilla	-	OMIM:610829
2736	GLI2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93926
2736	GLI2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93924
2736	GLI2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93925
2736	GLI2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:220386
2736	GLI2	HP:0010627	Anterior pituitary hypoplasia	-	OMIM:610829
2736	GLI2	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:95494
2736	GLI2	HP:0010627	Anterior pituitary hypoplasia	-	OMIM:615849
2736	GLI2	HP:0010626	Anterior pituitary agenesis	-	OMIM:610829
2736	GLI2	HP:0010626	Anterior pituitary agenesis	HP:0040282	ORPHA:95494
2736	GLI2	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:220386
2736	GLI2	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93926
2736	GLI2	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93924
2736	GLI2	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93925
2736	GLI2	HP:0003510	Severe short stature	7/7	OMIM:615777
2736	GLI2	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:220386
2736	GLI2	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93926
2736	GLI2	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:93924
2736	GLI2	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93925
2736	GLI2	HP:0001028	Hemangioma	HP:0040283	ORPHA:280200
2736	GLI2	HP:0002315	Headache	-	OMIM:131300
2736	GLI2	HP:0004976	Knee dislocation	6/7	OMIM:615777
2736	GLI2	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:280200
2736	GLI2	HP:0001092	Absent lacrimal punctum	1/4	OMIM:610829
2736	GLI2	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:280200
2736	GLI2	HP:0009803	Short phalanx of finger	-	OMIM:615777
2736	GLI2	HP:0009763	Limb pain	63/92	OMIM:131300
2736	GLI2	HP:0003621	Juvenile onset	-	OMIM:131300
2736	GLI2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2736	GLI2	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:220386
2736	GLI2	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93926
2736	GLI2	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93924
2736	GLI2	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93925
2736	GLI2	HP:0009099	Median cleft palate	HP:0040284	ORPHA:95494
2736	GLI2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2736	GLI2	HP:6001056	Out-toeing	-	OMIM:131300
2736	GLI2	HP:0000651	Diplopia	-	OMIM:131300
2736	GLI2	HP:0000612	Iris coloboma	HP:0040283	ORPHA:280200
2736	GLI2	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:95494
2736	GLI2	HP:0001956	Truncal obesity	2/7	OMIM:615777
2736	GLI2	HP:0000609	Optic nerve hypoplasia	1/11	OMIM:610829
2736	GLI2	HP:0000609	Optic nerve hypoplasia	HP:0040284	ORPHA:95494
2736	GLI2	HP:0000601	Hypotelorism	HP:0040282	ORPHA:280200
2736	GLI2	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93926
2736	GLI2	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93924
2736	GLI2	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93925
2736	GLI2	HP:0000601	Hypotelorism	16/25	OMIM:610829
2736	GLI2	HP:0000601	Hypotelorism	HP:0040283	OMIM:615849
2736	GLI2	HP:0000601	Hypotelorism	HP:0040281	ORPHA:220386
2736	GLI2	HP:0001903	Anemia	HP:0040283	OMIM:131300
2736	GLI2	HP:0010049	Short metacarpal	-	OMIM:615777
2736	GLI2	HP:0011344	Severe global developmental delay	HP:0040284	ORPHA:95494
2736	GLI2	HP:0000678	Dental crowding	-	OMIM:615777
2736	GLI2	HP:0000689	Dental malocclusion	11/14	OMIM:610829
2736	GLI2	HP:0012650	Perisylvian polymicrogyria	HP:0040283	ORPHA:280195
2736	GLI2	HP:0000670	Carious teeth	-	OMIM:131300
2736	GLI2	HP:0011304	Broad thumb	2/7	OMIM:615777
2736	GLI2	HP:0000668	Hypodontia	-	OMIM:615777
2736	GLI2	HP:0000664	Synophrys	-	OMIM:615777
2736	GLI2	HP:0006988	Alobar holoprosencephaly	1/11	OMIM:610829
2736	GLI2	HP:0004322	Short stature	HP:0040283	OMIM:610829
2736	GLI2	HP:0004322	Short stature	HP:0040281	ORPHA:220386
2736	GLI2	HP:0004322	Short stature	HP:0040282	ORPHA:280200
2736	GLI2	HP:0004322	Short stature	HP:0040281	ORPHA:93926
2736	GLI2	HP:0004322	Short stature	HP:0040282	ORPHA:93924
2736	GLI2	HP:0004322	Short stature	HP:0040281	ORPHA:93925
2736	GLI2	HP:0004322	Short stature	-	OMIM:615849
2736	GLI2	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:220386
2736	GLI2	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93926
2736	GLI2	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93924
2736	GLI2	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93925
2736	GLI2	HP:0005625	Osteoporosis of vertebrae	HP:0040283	ORPHA:95494
2736	GLI2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:280200
2736	GLI2	HP:0004396	Poor appetite	-	OMIM:131300
2736	GLI2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2736	GLI2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2736	GLI2	HP:0031913	Rhombencephalosynapsis	HP:0040283	ORPHA:280195
2736	GLI2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2736	GLI2	HP:0003026	Short long bone	7/7	OMIM:615777
2736	GLI2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2736	GLI2	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:280195
2736	GLI2	HP:0012731	Ectopic anterior pituitary gland	HP:0040284	ORPHA:95494
2736	GLI2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2736	GLI2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2736	GLI2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2736	GLI2	HP:0000737	Irritability	HP:0040282	ORPHA:93926
2736	GLI2	HP:0000737	Irritability	HP:0040282	ORPHA:93924
2736	GLI2	HP:0000737	Irritability	HP:0040282	ORPHA:93925
2736	GLI2	HP:0000737	Irritability	HP:0040282	ORPHA:220386
2736	GLI2	HP:0000739	Anxiety	HP:0040282	ORPHA:93926
2736	GLI2	HP:0000739	Anxiety	HP:0040282	ORPHA:93924
2736	GLI2	HP:0000739	Anxiety	HP:0040282	ORPHA:93925
2736	GLI2	HP:0000739	Anxiety	HP:0040282	ORPHA:220386
2736	GLI2	HP:0000736	Short attention span	HP:0040282	ORPHA:280195
2736	GLI2	HP:0000750	Delayed speech and language development	-	OMIM:615777
2736	GLI2	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:220386
2736	GLI2	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93926
2736	GLI2	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93924
2736	GLI2	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93925
2736	GLI2	HP:0000741	Apathy	HP:0040282	ORPHA:220386
2736	GLI2	HP:0000741	Apathy	HP:0040282	ORPHA:93926
2736	GLI2	HP:0000741	Apathy	HP:0040283	ORPHA:93924
2736	GLI2	HP:0000741	Apathy	HP:0040282	ORPHA:93925
2736	GLI2	HP:0000716	Depression	HP:0040282	ORPHA:93926
2736	GLI2	HP:0000716	Depression	HP:0040282	ORPHA:93924
2736	GLI2	HP:0000716	Depression	HP:0040282	ORPHA:93925
2736	GLI2	HP:0000716	Depression	HP:0040282	ORPHA:220386
2736	GLI2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93926
2736	GLI2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93924
2736	GLI2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93925
2736	GLI2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:220386
2736	GLI2	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:280195
2736	GLI2	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:220386
2736	GLI2	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93926
2736	GLI2	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93924
2736	GLI2	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93925
2736	GLI2	HP:0011461	Fetal onset	7/7	OMIM:615777
2736	GLI2	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:220386
2736	GLI2	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93926
2736	GLI2	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93924
2736	GLI2	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93925
2736	GLI2	HP:0000774	Narrow chest	2/7	OMIM:615777
2736	GLI2	HP:0000789	Infertility	HP:0040282	ORPHA:95494
2736	GLI2	HP:0003196	Short nose	HP:0040283	ORPHA:280200
2736	GLI2	HP:0003196	Short nose	1/4	OMIM:610829
2736	GLI2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93926
2736	GLI2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93924
2736	GLI2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93925
2736	GLI2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:220386
2736	GLI2	HP:0000926	Platyspondyly	1/7	OMIM:615777
2736	GLI2	HP:0003180	Flat acetabular roof	-	OMIM:615777
2736	GLI2	HP:0004482	Relative macrocephaly	-	OMIM:615777
2736	GLI2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2736	GLI2	HP:0000873	Diabetes insipidus	HP:0040283	OMIM:615849
2736	GLI2	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:220386
2736	GLI2	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93926
2736	GLI2	HP:0000873	Diabetes insipidus	HP:0040282	ORPHA:93924
2736	GLI2	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93925
2736	GLI2	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:280200
2736	GLI2	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:220386
2736	GLI2	HP:0000871	Panhypopituitarism	3/11	OMIM:610829
2736	GLI2	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93926
2736	GLI2	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93924
2736	GLI2	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93925
2736	GLI2	HP:0000863	Central diabetes insipidus	HP:0040282	ORPHA:280195
2736	GLI2	HP:0000839	Pituitary dwarfism	HP:0040283	ORPHA:95494
2736	GLI2	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:280195
2736	GLI2	HP:0100336	Bilateral cleft lip	3/15	OMIM:610829
2736	GLI2	HP:0100337	Bilateral cleft palate	3/15	OMIM:610829
2736	GLI2	HP:0012806	Proboscis	HP:0040283	ORPHA:220386
2736	GLI2	HP:0012806	Proboscis	HP:0040283	ORPHA:93926
2736	GLI2	HP:0012806	Proboscis	HP:0040284	ORPHA:93924
2736	GLI2	HP:0012806	Proboscis	HP:0040283	ORPHA:93925
2736	GLI2	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:220386
2736	GLI2	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93926
2736	GLI2	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:93924
2736	GLI2	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93925
2736	GLI2	HP:0000826	Precocious puberty	HP:0040282	ORPHA:280195
2736	GLI2	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:280200
2736	GLI2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93926
2736	GLI2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93924
2736	GLI2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93925
2736	GLI2	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:610829
2736	GLI2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:95494
2736	GLI2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:220386
2736	GLI2	HP:0000823	Delayed puberty	-	OMIM:131300
2736	GLI2	HP:0000823	Delayed puberty	HP:0040283	ORPHA:95494
2736	GLI2	HP:0010290	Short hard palate	-	OMIM:610829
2736	GLI2	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:220386
2736	GLI2	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93926
2736	GLI2	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93924
2736	GLI2	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93925
2736	GLI2	HP:0040075	Hypopituitarism	HP:0040280	ORPHA:95494
2736	GLI2	HP:0040075	Hypopituitarism	-	OMIM:615849
2736	GLI2	HP:0040086	Abnormal prolactin level	HP:0040282	ORPHA:95494
2736	GLI2	HP:0000894	Short clavicles	-	OMIM:615777
2736	GLI2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2736	GLI2	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:95494
2736	GLI2	HP:0100259	Postaxial polydactyly	HP:0040283	OMIM:615849
2736	GLI2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2736	GLI2	HP:0045005	Neural tube defect	HP:0040282	ORPHA:220386
2736	GLI2	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93926
2736	GLI2	HP:0045005	Neural tube defect	HP:0040284	ORPHA:93924
2736	GLI2	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93925
2736	GLI2	HP:0000938	Osteopenia	HP:0040282	ORPHA:95494
2736	GLI2	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:220386
2736	GLI2	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93926
2736	GLI2	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93924
2736	GLI2	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93925
2736	GLI2	HP:0000286	Epicanthus	1/4	OMIM:610829
2736	GLI2	HP:0000286	Epicanthus	1/7	OMIM:615777
2736	GLI2	HP:0000280	Coarse facial features	2/7	OMIM:615777
2736	GLI2	HP:0000260	Wide anterior fontanel	1/4	OMIM:610829
2736	GLI2	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93926
2736	GLI2	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93924
2736	GLI2	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93925
2736	GLI2	HP:0000256	Macrocephaly	HP:0040283	ORPHA:220386
2736	GLI2	HP:0000272	Malar flattening	11/14	OMIM:610829
2736	GLI2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93926
2736	GLI2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93924
2736	GLI2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93925
2736	GLI2	HP:0002827	Hip dislocation	3/7	OMIM:615777
2736	GLI2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:220386
2736	GLI2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93926
2736	GLI2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93924
2736	GLI2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93925
2736	GLI2	HP:0000238	Hydrocephalus	1/11	OMIM:610829
2736	GLI2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220386
2736	GLI2	HP:0000252	Microcephaly	2/11	OMIM:610829
2736	GLI2	HP:0000252	Microcephaly	HP:0040283	ORPHA:280195
2736	GLI2	HP:0000252	Microcephaly	HP:0040282	ORPHA:220386
2736	GLI2	HP:0000252	Microcephaly	HP:0040282	ORPHA:280200
2736	GLI2	HP:0000252	Microcephaly	HP:0040282	ORPHA:93926
2736	GLI2	HP:0000252	Microcephaly	HP:0040283	ORPHA:93924
2736	GLI2	HP:0000252	Microcephaly	HP:0040282	ORPHA:93925
2736	GLI2	HP:0000252	Microcephaly	-	OMIM:615777
2736	GLI2	HP:0000218	High palate	HP:0040282	ORPHA:93926
2736	GLI2	HP:0000218	High palate	HP:0040282	ORPHA:93924
2736	GLI2	HP:0000218	High palate	HP:0040282	ORPHA:93925
2736	GLI2	HP:0000218	High palate	HP:0040282	ORPHA:220386
2736	GLI2	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:280195
2736	GLI2	HP:0002857	Genu valgum	-	OMIM:131300
2736	GLI2	HP:0002871	Central apnea	HP:0040282	ORPHA:220386
2736	GLI2	HP:0002871	Central apnea	HP:0040282	ORPHA:93926
2736	GLI2	HP:0002871	Central apnea	HP:0040283	ORPHA:93924
2736	GLI2	HP:0002871	Central apnea	HP:0040282	ORPHA:93925
2736	GLI2	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:280200
2736	GLI2	HP:0001533	Slender build	-	OMIM:131300
2736	GLI2	HP:0000204	Cleft upper lip	-	OMIM:610829
2736	GLI2	HP:0000204	Cleft upper lip	HP:0040283	OMIM:615849
2736	GLI2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93926
2736	GLI2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:93924
2736	GLI2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93925
2736	GLI2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:220386
2736	GLI2	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:280200
2736	GLI2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2736	GLI2	HP:0001510	Growth delay	HP:0040281	ORPHA:93926
2736	GLI2	HP:0001510	Growth delay	HP:0040282	ORPHA:93924
2736	GLI2	HP:0001510	Growth delay	HP:0040281	ORPHA:93925
2736	GLI2	HP:0001510	Growth delay	HP:0040282	ORPHA:95494
2736	GLI2	HP:0001510	Growth delay	HP:0040281	ORPHA:220386
2736	GLI2	HP:0007807	Optic nerve compression	-	OMIM:131300
2736	GLI2	HP:0012378	Fatigue	HP:0040282	ORPHA:95494
2736	GLI2	HP:0000384	Preauricular skin tag	1/4	OMIM:610829
2736	GLI2	HP:0012368	Flat face	7/7	OMIM:615777
2736	GLI2	HP:0000395	Prominent antihelix	-	OMIM:610829
2736	GLI2	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:220386
2736	GLI2	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93926
2736	GLI2	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93924
2736	GLI2	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93925
2736	GLI2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2736	GLI2	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:95494
2736	GLI2	HP:0006485	Agenesis of incisor	-	OMIM:610829
2736	GLI2	HP:0000365	Hearing impairment	10/67	OMIM:131300
2736	GLI2	HP:0000358	Posteriorly rotated ears	1/4	OMIM:610829
2736	GLI2	HP:0000343	Long philtrum	1/7	OMIM:615777
2736	GLI2	HP:0011001	Increased bone mineral density	-	OMIM:131300
2736	GLI2	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:280195
2736	GLI2	HP:0000311	Round face	2/7	OMIM:615777
2736	GLI2	HP:0000327	Hypoplasia of the maxilla	20/20	OMIM:610829
2736	GLI2	HP:0000322	Short philtrum	HP:0040282	ORPHA:280200
2736	GLI2	HP:0000322	Short philtrum	-	OMIM:610829
2736	GLI2	HP:0000324	Facial asymmetry	1/4	OMIM:610829
2736	GLI2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93926
2736	GLI2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93924
2736	GLI2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93925
2736	GLI2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:220386
2736	GLI2	HP:0001622	Premature birth	HP:0040282	ORPHA:280200
2736	GLI2	HP:0002970	Genu varum	-	OMIM:615777
2736	GLI2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:280200
2736	GLI2	HP:0000303	Mandibular prognathia	-	OMIM:131300
2736	GLI2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93926
2736	GLI2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93924
2736	GLI2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93925
2736	GLI2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:220386
2736	GLI2	HP:0000400	Macrotia	11/14	OMIM:610829
2736	GLI2	HP:0005280	Depressed nasal bridge	-	OMIM:610829
2736	GLI2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2736	GLI2	HP:0000486	Strabismus	HP:0040283	ORPHA:280200
2736	GLI2	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93926
2736	GLI2	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:93924
2736	GLI2	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93925
2736	GLI2	HP:0000478	Abnormality of the eye	HP:0040284	ORPHA:95494
2736	GLI2	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:220386
2736	GLI2	HP:0000463	Anteverted nares	HP:0040283	ORPHA:280200
2736	GLI2	HP:0000455	Broad nasal tip	1/4	OMIM:610829
2736	GLI2	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93926
2736	GLI2	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93924
2736	GLI2	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93925
2736	GLI2	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:95494
2736	GLI2	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:220386
2736	GLI2	HP:0000470	Short neck	1/4	OMIM:610829
2736	GLI2	HP:0000470	Short neck	1/7	OMIM:615777
2736	GLI2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2736	GLI2	HP:0001763	Pes planus	1/7	OMIM:615777
2736	GLI2	HP:0000453	Choanal atresia	HP:0040281	ORPHA:280200
2736	GLI2	HP:0000453	Choanal atresia	1/4	OMIM:610829
2736	GLI2	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:280200
2736	GLI2	HP:0011297	Abnormal digit morphology	HP:0040284	ORPHA:95494
2736	GLI2	HP:0011272	Underdeveloped tragus	-	OMIM:610829
2736	GLI2	HP:0001840	Metatarsus adductus	-	OMIM:615777
2736	GLI2	HP:0000528	Anophthalmia	1/4	OMIM:610829
2736	GLI2	HP:0000520	Proptosis	2/4	OMIM:131300
2736	GLI2	HP:0000520	Proptosis	7/7	OMIM:615777
2736	GLI2	HP:0000508	Ptosis	1/4	OMIM:610829
2736	GLI2	HP:0000592	Blue sclerae	2/7	OMIM:615777
2736	GLI2	HP:0011220	Prominent forehead	2/4	OMIM:610829
2736	GLI2	HP:0000568	Microphthalmia	-	OMIM:610829
2736	GLI2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2736	GLI2	HP:0012514	Lower limb pain	4/4	OMIM:131300
2737	GLI3	HP:0001177	Preaxial hand polydactyly	3/51	OMIM:175700
2737	GLI3	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:380
2737	GLI3	HP:0001177	Preaxial hand polydactyly	1/3	OMIM:174200
2737	GLI3	HP:0001177	Preaxial hand polydactyly	0/20	OMIM:146510
2737	GLI3	HP:0001171	Split hand	HP:0040282	ORPHA:93322
2737	GLI3	HP:0001156	Brachydactyly	HP:0040282	ORPHA:672
2737	GLI3	HP:0001156	Brachydactyly	2/2	OMIM:175700
2737	GLI3	HP:0001162	Postaxial hand polydactyly	HP:0040282	ORPHA:672
2737	GLI3	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:36
2737	GLI3	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:380
2737	GLI3	HP:0001162	Postaxial hand polydactyly	-	OMIM:146510
2737	GLI3	HP:0001162	Postaxial hand polydactyly	26/51	OMIM:175700
2737	GLI3	HP:0001162	Postaxial hand polydactyly	21/21	OMIM:174200
2737	GLI3	HP:0001159	Syndactyly	8/21	OMIM:146510
2737	GLI3	HP:0001159	Syndactyly	32/49	OMIM:175700
2737	GLI3	HP:0001159	Syndactyly	1/11	OMIM:174200
2737	GLI3	HP:0001159	Syndactyly	HP:0040283	ORPHA:93322
2737	GLI3	HP:0002475	Myelomeningocele	HP:0040284	ORPHA:93322
2737	GLI3	HP:0002444	Hypothalamic hamartoma	HP:0040280	ORPHA:672
2737	GLI3	HP:0002444	Hypothalamic hamartoma	11/11	OMIM:146510
2737	GLI3	HP:0010958	Bilateral renal agenesis	HP:0040284	ORPHA:672
2737	GLI3	HP:0009971	Polydactyly affecting the 4th finger	HP:0040282	ORPHA:672
2737	GLI3	HP:0009958	Polydactyly affecting the 3rd finger	HP:0040282	ORPHA:672
2737	GLI3	HP:0009942	Duplication of thumb phalanx	-	OMIM:174700
2737	GLI3	HP:0001199	Triphalangeal thumb	HP:0040282	ORPHA:36
2737	GLI3	HP:0001199	Triphalangeal thumb	HP:0040283	OMIM:174200
2737	GLI3	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:36
2737	GLI3	HP:0008551	Microtia	HP:0040282	ORPHA:672
2737	GLI3	HP:0008551	Microtia	HP:0040284	OMIM:146510
2737	GLI3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2737	GLI3	HP:0001293	Cranial nerve compression	-	OMIM:131300
2737	GLI3	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:380
2737	GLI3	HP:0001274	Agenesis of corpus callosum	6/22	OMIM:175700
2737	GLI3	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:672
2737	GLI3	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:380
2737	GLI3	HP:0001256	Intellectual disability, mild	HP:0040283	OMIM:175700
2737	GLI3	HP:0001250	Seizure	HP:0040283	ORPHA:380
2737	GLI3	HP:0001250	Seizure	HP:0040283	OMIM:175700
2737	GLI3	HP:0001250	Seizure	-	OMIM:146510
2737	GLI3	HP:0001252	Hypotonia	2/7	OMIM:615777
2737	GLI3	HP:0001249	Intellectual disability	HP:0040284	ORPHA:672
2737	GLI3	HP:0001249	Intellectual disability	3/14	OMIM:146510
2737	GLI3	HP:0001249	Intellectual disability	0/10	OMIM:174200
2737	GLI3	HP:0001249	Intellectual disability	5/7	OMIM:615777
2737	GLI3	HP:0001263	Global developmental delay	HP:0040283	ORPHA:672
2737	GLI3	HP:0001263	Global developmental delay	14/45	OMIM:175700
2737	GLI3	HP:0001263	Global developmental delay	3/14	OMIM:146510
2737	GLI3	HP:0001263	Global developmental delay	0/10	OMIM:174200
2737	GLI3	HP:0001263	Global developmental delay	-	OMIM:615777
2737	GLI3	HP:0006118	Shortening of all distal phalanges of the fingers	12/13	OMIM:146510
2737	GLI3	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:380
2737	GLI3	HP:0008751	Laryngeal cleft	HP:0040282	ORPHA:672
2737	GLI3	HP:0008751	Laryngeal cleft	HP:0040282	OMIM:146510
2737	GLI3	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:672
2737	GLI3	HP:0008734	Decreased testicular size	-	OMIM:146510
2737	GLI3	HP:0008706	Distal urethral duplication	-	OMIM:146510
2737	GLI3	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040281	ORPHA:36
2737	GLI3	HP:0006042	Y-shaped metacarpals	0/51	OMIM:175700
2737	GLI3	HP:0006042	Y-shaped metacarpals	0/10	OMIM:174200
2737	GLI3	HP:0006042	Y-shaped metacarpals	14/17	OMIM:146510
2737	GLI3	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:36
2737	GLI3	HP:0008684	Aplasia/hypoplasia of the uterus	HP:0040284	ORPHA:672
2737	GLI3	HP:0002515	Waddling gait	54/102	OMIM:131300
2737	GLI3	HP:0003828	Variable expressivity	-	OMIM:146510
2737	GLI3	HP:0003811	Neonatal death	-	OMIM:146510
2737	GLI3	HP:0000089	Renal hypoplasia	-	OMIM:146510
2737	GLI3	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:672
2737	GLI3	HP:0000086	Ectopic kidney	HP:0040283	OMIM:146510
2737	GLI3	HP:0000098	Tall stature	HP:0040283	ORPHA:36
2737	GLI3	HP:0000062	Ambiguous genitalia	HP:0040284	ORPHA:672
2737	GLI3	HP:0000062	Ambiguous genitalia	HP:0040284	ORPHA:93322
2737	GLI3	HP:0000072	Hydroureter	-	OMIM:146510
2737	GLI3	HP:0000046	Small scrotum	HP:0040284	ORPHA:672
2737	GLI3	HP:0000054	Micropenis	HP:0040283	ORPHA:672
2737	GLI3	HP:0000054	Micropenis	-	OMIM:146510
2737	GLI3	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:93322
2737	GLI3	HP:0001382	Joint hypermobility	-	OMIM:615777
2737	GLI3	HP:0000047	Hypospadias	HP:0040283	ORPHA:672
2737	GLI3	HP:0000047	Hypospadias	HP:0040283	ORPHA:36
2737	GLI3	HP:0000047	Hypospadias	HP:0040283	OMIM:175700
2737	GLI3	HP:0000047	Hypospadias	HP:0040284	ORPHA:93322
2737	GLI3	HP:0002683	Abnormal calvaria morphology	HP:0040283	OMIM:175700
2737	GLI3	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:672
2737	GLI3	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:36
2737	GLI3	HP:0000023	Inguinal hernia	3/11	OMIM:175700
2737	GLI3	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:380
2737	GLI3	HP:0001363	Craniosynostosis	2/55	OMIM:175700
2737	GLI3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2737	GLI3	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:672
2737	GLI3	HP:0001360	Holoprosencephaly	-	OMIM:146510
2737	GLI3	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:36
2737	GLI3	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:672
2737	GLI3	HP:0000028	Cryptorchidism	-	OMIM:146510
2737	GLI3	HP:0000028	Cryptorchidism	HP:0040283	OMIM:175700
2737	GLI3	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:93322
2737	GLI3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2737	GLI3	HP:0006159	Mesoaxial hand polydactyly	-	OMIM:146510
2737	GLI3	HP:0006136	Bilateral postaxial polydactyly	HP:0040282	ORPHA:672
2737	GLI3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2737	GLI3	HP:0001324	Muscle weakness	40/96	OMIM:131300
2737	GLI3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2737	GLI3	HP:0002673	Coxa valga	HP:0040284	ORPHA:93322
2737	GLI3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2737	GLI3	HP:0000006	Autosomal dominant inheritance	20/20	OMIM:174200
2737	GLI3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2737	GLI3	HP:0000006	Autosomal dominant inheritance	-	OMIM:175700
2737	GLI3	HP:0000006	Autosomal dominant inheritance	-	OMIM:174700
2737	GLI3	HP:0000006	Autosomal dominant inheritance	-	OMIM:146510
2737	GLI3	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:36
2737	GLI3	HP:0002652	Skeletal dysplasia	HP:0040282	ORPHA:672
2737	GLI3	HP:0002650	Scoliosis	12/14	OMIM:131300
2737	GLI3	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:672
2737	GLI3	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:175700
2737	GLI3	HP:0003974	Absent radius	HP:0040283	ORPHA:93322
2737	GLI3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2737	GLI3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2737	GLI3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2737	GLI3	HP:0007601	Midline facial capillary hemangioma	HP:0040283	ORPHA:672
2737	GLI3	HP:0007601	Midline facial capillary hemangioma	HP:0040284	OMIM:146510
2737	GLI3	HP:0000193	Bifid uvula	HP:0040282	ORPHA:672
2737	GLI3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2737	GLI3	HP:0000191	Accessory oral frenulum	HP:0040282	ORPHA:672
2737	GLI3	HP:0012165	Oligodactyly	HP:0040283	ORPHA:672
2737	GLI3	HP:0012165	Oligodactyly	3/21	OMIM:146510
2737	GLI3	HP:0012165	Oligodactyly	HP:0040283	ORPHA:93322
2737	GLI3	HP:0000175	Cleft palate	HP:0040283	ORPHA:672
2737	GLI3	HP:0000175	Cleft palate	3/21	OMIM:146510
2737	GLI3	HP:0000175	Cleft palate	2/7	OMIM:615777
2737	GLI3	HP:0000175	Cleft palate	HP:0040284	ORPHA:93322
2737	GLI3	HP:0000171	Microglossia	HP:0040283	ORPHA:672
2737	GLI3	HP:0000171	Microglossia	HP:0040283	OMIM:146510
2737	GLI3	HP:0410030	Cleft lip	HP:0040283	ORPHA:672
2737	GLI3	HP:0000122	Unilateral renal agenesis	HP:0040283	ORPHA:672
2737	GLI3	HP:0001459	1-3 toe syndactyly	-	OMIM:175700
2737	GLI3	HP:0000126	Hydronephrosis	-	OMIM:146510
2737	GLI3	HP:0000110	Renal dysplasia	HP:0040282	ORPHA:672
2737	GLI3	HP:0000110	Renal dysplasia	-	OMIM:146510
2737	GLI3	HP:0000107	Renal cyst	-	OMIM:146510
2737	GLI3	HP:0002023	Anal atresia	HP:0040282	ORPHA:672
2737	GLI3	HP:0002023	Anal atresia	9/20	OMIM:146510
2737	GLI3	HP:0002023	Anal atresia	0/51	OMIM:175700
2737	GLI3	HP:0002023	Anal atresia	0/10	OMIM:174200
2737	GLI3	HP:0005990	Thyroid hypoplasia	HP:0040283	ORPHA:672
2737	GLI3	HP:0002007	Frontal bossing	HP:0040282	ORPHA:380
2737	GLI3	HP:0002007	Frontal bossing	-	OMIM:175700
2737	GLI3	HP:0002093	Respiratory insufficiency	HP:0040284	ORPHA:672
2737	GLI3	HP:0002079	Hypoplasia of the corpus callosum	4/12	OMIM:175700
2737	GLI3	HP:0003388	Easy fatigability	36/76	OMIM:131300
2737	GLI3	HP:0010442	Polydactyly	HP:0040283	ORPHA:93322
2737	GLI3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2737	GLI3	HP:0011748	Adrenocorticotropic hormone deficiency	HP:0040282	ORPHA:672
2737	GLI3	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:672
2737	GLI3	HP:0008188	Thyroid dysgenesis	-	OMIM:146510
2737	GLI3	HP:0005917	Supernumerary metacarpal bones	HP:0040282	ORPHA:672
2737	GLI3	HP:0008163	Decreased circulating cortisol level	-	OMIM:146510
2737	GLI3	HP:0009473	Joint contracture of the hand	HP:0040283	OMIM:175700
2737	GLI3	HP:0002139	Arrhinencephaly	HP:0040284	ORPHA:672
2737	GLI3	HP:0002119	Ventriculomegaly	7/15	OMIM:175700
2737	GLI3	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:672
2737	GLI3	HP:0002101	Abnormal lung lobation	-	OMIM:146510
2737	GLI3	HP:0011939	3-4 finger cutaneous syndactyly	HP:0040282	ORPHA:672
2737	GLI3	HP:0011939	3-4 finger cutaneous syndactyly	-	OMIM:174700
2737	GLI3	HP:0011939	3-4 finger cutaneous syndactyly	-	OMIM:175700
2737	GLI3	HP:0002164	Nail dysplasia	HP:0040282	ORPHA:672
2737	GLI3	HP:0002164	Nail dysplasia	8/12	OMIM:146510
2737	GLI3	HP:0002164	Nail dysplasia	0/51	OMIM:175700
2737	GLI3	HP:0002164	Nail dysplasia	0/10	OMIM:174200
2737	GLI3	HP:0010564	Bifid epiglottis	HP:0040283	ORPHA:672
2737	GLI3	HP:0010564	Bifid epiglottis	13/18	OMIM:146510
2737	GLI3	HP:0010567	Y-shaped metatarsals	0/51	OMIM:175700
2737	GLI3	HP:0010567	Y-shaped metatarsals	14/17	OMIM:146510
2737	GLI3	HP:0010554	Cutaneous finger syndactyly	6/10	OMIM:174200
2737	GLI3	HP:0010554	Cutaneous finger syndactyly	HP:0040283	ORPHA:93322
2737	GLI3	HP:0008240	Secondary growth hormone deficiency	HP:0040282	ORPHA:672
2737	GLI3	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:672
2737	GLI3	HP:0009556	Absent tibia	HP:0040281	ORPHA:93322
2737	GLI3	HP:0008213	Gonadotropin deficiency	HP:0040282	ORPHA:672
2737	GLI3	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:672
2737	GLI3	HP:0003577	Congenital onset	40/40	OMIM:174700
2737	GLI3	HP:0003577	Congenital onset	20/20	OMIM:146510
2737	GLI3	HP:0003577	Congenital onset	21/21	OMIM:174200
2737	GLI3	HP:0003577	Congenital onset	49/49	OMIM:175700
2737	GLI3	HP:0010713	1-5 toe syndactyly	-	OMIM:174700
2737	GLI3	HP:0200117	Recurrent upper and lower respiratory tract infections	HP:0040282	ORPHA:672
2737	GLI3	HP:0008368	Tarsal synostosis	HP:0040283	ORPHA:93322
2737	GLI3	HP:0010621	Cutaneous syndactyly of toes	6/10	OMIM:174200
2737	GLI3	HP:0003510	Severe short stature	7/7	OMIM:615777
2737	GLI3	HP:0001007	Hirsutism	HP:0040283	OMIM:175700
2737	GLI3	HP:0002315	Headache	-	OMIM:131300
2737	GLI3	HP:0004976	Knee dislocation	6/7	OMIM:615777
2737	GLI3	HP:0004987	Mesomelic leg shortening	HP:0040282	ORPHA:93322
2737	GLI3	HP:0010821	Focal emotional seizure with laughing	HP:0040283	ORPHA:672
2737	GLI3	HP:0009803	Short phalanx of finger	-	OMIM:615777
2737	GLI3	HP:0009763	Limb pain	63/92	OMIM:131300
2737	GLI3	HP:0003621	Juvenile onset	-	OMIM:131300
2737	GLI3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2737	GLI3	HP:0010059	Broad hallux phalanx	HP:0040282	OMIM:175700
2737	GLI3	HP:0010059	Broad hallux phalanx	HP:0040283	ORPHA:380
2737	GLI3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2737	GLI3	HP:6001056	Out-toeing	-	OMIM:131300
2737	GLI3	HP:0000651	Diplopia	-	OMIM:131300
2737	GLI3	HP:0001956	Truncal obesity	2/7	OMIM:615777
2737	GLI3	HP:0001903	Anemia	HP:0040283	OMIM:131300
2737	GLI3	HP:0010049	Short metacarpal	-	OMIM:615777
2737	GLI3	HP:0010055	Broad hallux	16/25	OMIM:175700
2737	GLI3	HP:0010055	Broad hallux	6/6	OMIM:174200
2737	GLI3	HP:0010037	Aplasia of the 2nd metacarpal	HP:0040283	ORPHA:93322
2737	GLI3	HP:0010044	Short 4th metacarpal	HP:0040282	ORPHA:672
2737	GLI3	HP:0010044	Short 4th metacarpal	HP:0040283	OMIM:146510
2737	GLI3	HP:0010043	Aplasia of the 4th metacarpal	HP:0040283	ORPHA:93322
2737	GLI3	HP:0000678	Dental crowding	-	OMIM:615777
2737	GLI3	HP:0000695	Natal tooth	HP:0040282	ORPHA:672
2737	GLI3	HP:0000695	Natal tooth	HP:0040283	OMIM:146510
2737	GLI3	HP:0011330	Metopic synostosis	HP:0040283	OMIM:175700
2737	GLI3	HP:0000670	Carious teeth	-	OMIM:131300
2737	GLI3	HP:0011304	Broad thumb	HP:0040282	ORPHA:672
2737	GLI3	HP:0011304	Broad thumb	HP:0040283	ORPHA:380
2737	GLI3	HP:0011304	Broad thumb	2/7	OMIM:615777
2737	GLI3	HP:0011304	Broad thumb	18/25	OMIM:175700
2737	GLI3	HP:0011304	Broad thumb	6/6	OMIM:174200
2737	GLI3	HP:0000668	Hypodontia	-	OMIM:615777
2737	GLI3	HP:0000664	Synophrys	-	OMIM:615777
2737	GLI3	HP:0004322	Short stature	HP:0040282	ORPHA:672
2737	GLI3	HP:0004322	Short stature	-	OMIM:146510
2737	GLI3	HP:0004303	Abnormal muscle fiber morphology	HP:0040283	OMIM:175700
2737	GLI3	HP:0005616	Accelerated skeletal maturation	HP:0040283	OMIM:175700
2737	GLI3	HP:0005616	Accelerated skeletal maturation	HP:0040282	ORPHA:380
2737	GLI3	HP:0003074	Hyperglycemia	HP:0040283	OMIM:175700
2737	GLI3	HP:0004396	Poor appetite	-	OMIM:131300
2737	GLI3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2737	GLI3	HP:0003048	Radial head subluxation	HP:0040282	ORPHA:672
2737	GLI3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2737	GLI3	HP:0003048	Radial head subluxation	-	OMIM:146510
2737	GLI3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2737	GLI3	HP:0003026	Short long bone	7/7	OMIM:615777
2737	GLI3	HP:0005688	Dysplastic distal thumb phalanges with a central hole	-	OMIM:174700
2737	GLI3	HP:0003027	Mesomelia	4/21	OMIM:146510
2737	GLI3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2737	GLI3	HP:0005684	Distal arthrogryposis	HP:0040284	ORPHA:672
2737	GLI3	HP:0012751	Abnormal basal ganglia MRI signal intensity	HP:0040282	ORPHA:672
2737	GLI3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2737	GLI3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2737	GLI3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2737	GLI3	HP:0000750	Delayed speech and language development	-	OMIM:615777
2737	GLI3	HP:0000750	Delayed speech and language development	2/2	OMIM:175700
2737	GLI3	HP:0000749	Paroxysmal bursts of laughter	HP:0040283	ORPHA:672
2737	GLI3	HP:0011461	Fetal onset	7/7	OMIM:615777
2737	GLI3	HP:0010112	Mesoaxial foot polydactyly	-	OMIM:146510
2737	GLI3	HP:0000774	Narrow chest	2/7	OMIM:615777
2737	GLI3	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:36
2737	GLI3	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:380
2737	GLI3	HP:0005736	Short tibia	HP:0040283	ORPHA:93322
2737	GLI3	HP:0030799	Scaphocephaly	HP:0040284	ORPHA:672
2737	GLI3	HP:0030799	Scaphocephaly	-	OMIM:175700
2737	GLI3	HP:0003196	Short nose	HP:0040282	ORPHA:672
2737	GLI3	HP:0003196	Short nose	-	OMIM:146510
2737	GLI3	HP:0000926	Platyspondyly	1/7	OMIM:615777
2737	GLI3	HP:0003180	Flat acetabular roof	-	OMIM:615777
2737	GLI3	HP:0000902	Rib fusion	HP:0040282	ORPHA:672
2737	GLI3	HP:0000902	Rib fusion	HP:0040284	OMIM:146510
2737	GLI3	HP:0004482	Relative macrocephaly	-	OMIM:615777
2737	GLI3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2737	GLI3	HP:0000889	Abnormal clavicle morphology	HP:0040283	ORPHA:36
2737	GLI3	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:672
2737	GLI3	HP:0000871	Panhypopituitarism	-	OMIM:146510
2737	GLI3	HP:0000835	Adrenal hypoplasia	HP:0040283	ORPHA:672
2737	GLI3	HP:0000835	Adrenal hypoplasia	HP:0040283	OMIM:146510
2737	GLI3	HP:0000826	Precocious puberty	HP:0040283	ORPHA:672
2737	GLI3	HP:0000826	Precocious puberty	-	OMIM:146510
2737	GLI3	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:146510
2737	GLI3	HP:0000823	Delayed puberty	-	OMIM:131300
2737	GLI3	HP:0040075	Hypopituitarism	HP:0040282	ORPHA:672
2737	GLI3	HP:0040086	Abnormal prolactin level	HP:0040282	ORPHA:672
2737	GLI3	HP:0000894	Short clavicles	-	OMIM:615777
2737	GLI3	HP:0005892	Proximal tibial and fibular fusion	HP:0040283	ORPHA:93322
2737	GLI3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2737	GLI3	HP:0100260	Mesoaxial polydactyly	HP:0040282	ORPHA:672
2737	GLI3	HP:0100259	Postaxial polydactyly	17/20	OMIM:146510
2737	GLI3	HP:0100258	Preaxial polydactyly	40/40	OMIM:174700
2737	GLI3	HP:0100258	Preaxial polydactyly	0/10	OMIM:174200
2737	GLI3	HP:0100258	Preaxial polydactyly	0/21	OMIM:146510
2737	GLI3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2737	GLI3	HP:0000286	Epicanthus	1/7	OMIM:615777
2737	GLI3	HP:0000280	Coarse facial features	2/7	OMIM:615777
2737	GLI3	HP:0000260	Wide anterior fontanel	HP:0040283	ORPHA:36
2737	GLI3	HP:0000256	Macrocephaly	HP:0040281	ORPHA:380
2737	GLI3	HP:0000256	Macrocephaly	HP:0040282	ORPHA:672
2737	GLI3	HP:0000256	Macrocephaly	HP:0040281	ORPHA:36
2737	GLI3	HP:0000256	Macrocephaly	0/10	OMIM:174200
2737	GLI3	HP:0000256	Macrocephaly	28/48	OMIM:175700
2737	GLI3	HP:0000270	Delayed cranial suture closure	HP:0040283	OMIM:175700
2737	GLI3	HP:0000273	Facial grimacing	HP:0040283	ORPHA:672
2737	GLI3	HP:0000268	Dolichocephaly	-	OMIM:175700
2737	GLI3	HP:0000269	Prominent occiput	HP:0040282	ORPHA:36
2737	GLI3	HP:0006460	Increased laxity of ankles	HP:0040283	ORPHA:93322
2737	GLI3	HP:0006426	Rudimentary to absent tibiae	HP:0040283	ORPHA:93322
2737	GLI3	HP:0006402	Distal shortening of limbs	-	OMIM:146510
2737	GLI3	HP:0002827	Hip dislocation	HP:0040282	ORPHA:672
2737	GLI3	HP:0002827	Hip dislocation	3/7	OMIM:615777
2737	GLI3	HP:0002827	Hip dislocation	-	OMIM:146510
2737	GLI3	HP:0002827	Hip dislocation	HP:0040284	ORPHA:93322
2737	GLI3	HP:0006380	Knee flexion contracture	HP:0040282	ORPHA:93322
2737	GLI3	HP:0000243	Trigonocephaly	HP:0040284	ORPHA:672
2737	GLI3	HP:0000243	Trigonocephaly	-	OMIM:175700
2737	GLI3	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:380
2737	GLI3	HP:0000238	Hydrocephalus	HP:0040283	OMIM:175700
2737	GLI3	HP:0000252	Microcephaly	-	OMIM:615777
2737	GLI3	HP:0001545	Anteriorly placed anus	1/21	OMIM:146510
2737	GLI3	HP:0001562	Oligohydramnios	HP:0040284	ORPHA:672
2737	GLI3	HP:0030010	Hydrometrocolpos	HP:0040284	ORPHA:672
2737	GLI3	HP:0030021	Auricular tag	HP:0040283	ORPHA:672
2737	GLI3	HP:0002857	Genu valgum	-	OMIM:131300
2737	GLI3	HP:0030032	Partial absence of foot	HP:0040283	ORPHA:93322
2737	GLI3	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:380
2737	GLI3	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:672
2737	GLI3	HP:0001537	Umbilical hernia	4/54	OMIM:175700
2737	GLI3	HP:0001539	Omphalocele	1/1	OMIM:175700
2737	GLI3	HP:0001533	Slender build	-	OMIM:131300
2737	GLI3	HP:0000204	Cleft upper lip	HP:0040283	OMIM:146510
2737	GLI3	HP:0001520	Large for gestational age	HP:0040283	ORPHA:672
2737	GLI3	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:672
2737	GLI3	HP:0001511	Intrauterine growth retardation	-	OMIM:146510
2737	GLI3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2737	GLI3	HP:0001510	Growth delay	10/18	OMIM:146510
2737	GLI3	HP:0001510	Growth delay	0/10	OMIM:174200
2737	GLI3	HP:0007807	Optic nerve compression	-	OMIM:131300
2737	GLI3	HP:0012386	Absent hallux	HP:0040283	ORPHA:93322
2737	GLI3	HP:0012368	Flat face	7/7	OMIM:615777
2737	GLI3	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040284	ORPHA:672
2737	GLI3	HP:0002937	Hemivertebrae	HP:0040282	ORPHA:672
2737	GLI3	HP:0002937	Hemivertebrae	HP:0040284	OMIM:146510
2737	GLI3	HP:0002937	Hemivertebrae	HP:0040284	ORPHA:93322
2737	GLI3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2737	GLI3	HP:0005151	Preductal coarctation of the aorta	-	OMIM:146510
2737	GLI3	HP:0000365	Hearing impairment	10/67	OMIM:131300
2737	GLI3	HP:0000365	Hearing impairment	HP:0040284	ORPHA:93322
2737	GLI3	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:672
2737	GLI3	HP:0000358	Posteriorly rotated ears	HP:0040284	OMIM:146510
2737	GLI3	HP:0000340	Sloping forehead	HP:0040282	ORPHA:36
2737	GLI3	HP:0000343	Long philtrum	1/7	OMIM:615777
2737	GLI3	HP:0011001	Increased bone mineral density	-	OMIM:131300
2737	GLI3	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:672
2737	GLI3	HP:0000348	High forehead	HP:0040282	ORPHA:380
2737	GLI3	HP:0000348	High forehead	-	OMIM:175700
2737	GLI3	HP:0000316	Hypertelorism	HP:0040282	ORPHA:380
2737	GLI3	HP:0000316	Hypertelorism	HP:0040281	ORPHA:36
2737	GLI3	HP:0000316	Hypertelorism	HP:0040282	ORPHA:672
2737	GLI3	HP:0000316	Hypertelorism	0/10	OMIM:174200
2737	GLI3	HP:0000316	Hypertelorism	18/42	OMIM:175700
2737	GLI3	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:672
2737	GLI3	HP:0001643	Patent ductus arteriosus	HP:0040283	OMIM:146510
2737	GLI3	HP:0000311	Round face	2/7	OMIM:615777
2737	GLI3	HP:0002986	Radial bowing	HP:0040282	ORPHA:672
2737	GLI3	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:672
2737	GLI3	HP:0001629	Ventricular septal defect	-	OMIM:146510
2737	GLI3	HP:0001627	Abnormal heart morphology	HP:0040283	OMIM:175700
2737	GLI3	HP:0002970	Genu varum	-	OMIM:615777
2737	GLI3	HP:0000308	Microretrognathia	HP:0040283	ORPHA:672
2737	GLI3	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:672
2737	GLI3	HP:0001631	Atrial septal defect	1/1	OMIM:175700
2737	GLI3	HP:0000303	Mandibular prognathia	-	OMIM:131300
2737	GLI3	HP:0004059	Radial club hand	HP:0040283	ORPHA:93322
2737	GLI3	HP:0006695	Atrioventricular canal defect	HP:0040283	ORPHA:672
2737	GLI3	HP:0005349	Hypoplasia of the epiglottis	-	OMIM:146510
2737	GLI3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:36
2737	GLI3	HP:0005280	Depressed nasal bridge	HP:0040283	OMIM:146510
2737	GLI3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2737	GLI3	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:672
2737	GLI3	HP:0000494	Downslanted palpebral fissures	HP:0040283	OMIM:175700
2737	GLI3	HP:0000463	Anteverted nares	HP:0040282	ORPHA:672
2737	GLI3	HP:0000463	Anteverted nares	HP:0040283	OMIM:146510
2737	GLI3	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:672
2737	GLI3	HP:0000470	Short neck	1/7	OMIM:615777
2737	GLI3	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:672
2737	GLI3	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:380
2737	GLI3	HP:0001770	Toe syndactyly	HP:0040283	OMIM:146510
2737	GLI3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2737	GLI3	HP:0001763	Pes planus	1/7	OMIM:615777
2737	GLI3	HP:0000453	Choanal atresia	HP:0040283	ORPHA:672
2737	GLI3	HP:0000453	Choanal atresia	3/21	OMIM:146510
2737	GLI3	HP:0000413	Atresia of the external auditory canal	HP:0040282	ORPHA:672
2737	GLI3	HP:0000413	Atresia of the external auditory canal	HP:0040284	OMIM:146510
2737	GLI3	HP:0001762	Talipes equinovarus	HP:0040281	ORPHA:93322
2737	GLI3	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:380
2737	GLI3	HP:0000431	Wide nasal bridge	-	OMIM:175700
2737	GLI3	HP:0030431	Osteochondroma	HP:0040284	ORPHA:672
2737	GLI3	HP:0001849	Foot oligodactyly	HP:0040283	ORPHA:93322
2737	GLI3	HP:0001845	Overlapping toe	HP:0040283	ORPHA:672
2737	GLI3	HP:0001841	Preaxial foot polydactyly	37/51	OMIM:175700
2737	GLI3	HP:0001841	Preaxial foot polydactyly	HP:0040281	ORPHA:380
2737	GLI3	HP:0001841	Preaxial foot polydactyly	2/3	OMIM:174200
2737	GLI3	HP:0001841	Preaxial foot polydactyly	0/20	OMIM:146510
2737	GLI3	HP:0001840	Metatarsus adductus	-	OMIM:615777
2737	GLI3	HP:0001840	Metatarsus adductus	HP:0040283	ORPHA:93322
2737	GLI3	HP:0000520	Proptosis	2/4	OMIM:131300
2737	GLI3	HP:0000520	Proptosis	7/7	OMIM:615777
2737	GLI3	HP:0001837	Broad toe	HP:0040283	ORPHA:672
2737	GLI3	HP:0000506	Telecanthus	HP:0040282	ORPHA:380
2737	GLI3	HP:0001839	Split foot	HP:0040283	ORPHA:93322
2737	GLI3	HP:0000508	Ptosis	HP:0040282	ORPHA:672
2737	GLI3	HP:0001836	Camptodactyly of toe	HP:0040283	OMIM:175700
2737	GLI3	HP:0001830	Postaxial foot polydactyly	11/51	OMIM:175700
2737	GLI3	HP:0001830	Postaxial foot polydactyly	HP:0040283	ORPHA:380
2737	GLI3	HP:0001830	Postaxial foot polydactyly	11/11	OMIM:174200
2737	GLI3	HP:0001830	Postaxial foot polydactyly	-	OMIM:146510
2737	GLI3	HP:0000592	Blue sclerae	2/7	OMIM:615777
2737	GLI3	HP:0000563	Keratoconus	1/1	OMIM:175700
2737	GLI3	HP:0000568	Microphthalmia	HP:0040282	ORPHA:672
2737	GLI3	HP:0000568	Microphthalmia	HP:0040284	OMIM:146510
2737	GLI3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2737	GLI3	HP:0001883	Talipes	HP:0040284	ORPHA:672
2737	GLI3	HP:0012514	Lower limb pain	4/4	OMIM:131300
2741	GLRA1	HP:0001276	Hypertonia	HP:0040281	ORPHA:3197
2741	GLRA1	HP:0001276	Hypertonia	-	OMIM:149400
2741	GLRA1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:3197
2741	GLRA1	HP:0001250	Seizure	HP:0040283	ORPHA:3197
2741	GLRA1	HP:0001250	Seizure	-	OMIM:149400
2741	GLRA1	HP:0001251	Ataxia	HP:0040281	ORPHA:3197
2741	GLRA1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3197
2741	GLRA1	HP:0001257	Spasticity	HP:0040281	ORPHA:3197
2741	GLRA1	HP:0001373	Joint dislocation	HP:0040283	ORPHA:3197
2741	GLRA1	HP:0001387	Joint stiffness	HP:0040281	ORPHA:3197
2741	GLRA1	HP:0000023	Inguinal hernia	-	OMIM:149400
2741	GLRA1	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:3197
2741	GLRA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:149400
2741	GLRA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:149400
2741	GLRA1	HP:0001336	Myoclonus	HP:0040281	ORPHA:3197
2741	GLRA1	HP:0001336	Myoclonus	-	OMIM:149400
2741	GLRA1	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:3197
2741	GLRA1	HP:0002036	Hiatus hernia	HP:0040281	ORPHA:3197
2741	GLRA1	HP:0002063	Rigidity	HP:0040281	ORPHA:3197
2741	GLRA1	HP:0002104	Apnea	-	OMIM:149400
2741	GLRA1	HP:0002267	Exaggerated startle response	-	OMIM:149400
2741	GLRA1	HP:0003593	Infantile onset	-	OMIM:149400
2741	GLRA1	HP:0003552	Muscle stiffness	HP:0040281	ORPHA:3197
2741	GLRA1	HP:0100790	Hernia	HP:0040282	ORPHA:3197
2741	GLRA1	HP:0002380	Fasciculations	HP:0040281	ORPHA:3197
2741	GLRA1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:3197
2741	GLRA1	HP:0002359	Frequent falls	-	OMIM:149400
2741	GLRA1	HP:0002375	Hypokinesia	-	OMIM:149400
2741	GLRA1	HP:0100633	Esophagitis	HP:0040281	ORPHA:3197
2741	GLRA1	HP:0031951	Nocturnal seizures	-	OMIM:149400
2741	GLRA1	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:3197
2741	GLRA1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:3197
2741	GLRA1	HP:0002827	Hip dislocation	-	OMIM:149400
2741	GLRA1	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:3197
2741	GLRA1	HP:0001537	Umbilical hernia	-	OMIM:149400
2741	GLRA1	HP:0002835	Aspiration	-	OMIM:149400
2742	GLRA2	HP:0001256	Intellectual disability, mild	1/2	OMIM:301076
2742	GLRA2	HP:0001417	X-linked inheritance	-	OMIM:301076
2742	GLRA2	HP:0002033	Poor suck	1/2	OMIM:301076
2742	GLRA2	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:301076
2742	GLRA2	HP:0000752	Hyperactivity	1/2	OMIM:301076
2742	GLRA2	HP:0000732	Inflexible adherence to routines	1/2	OMIM:301076
2742	GLRA2	HP:0000750	Delayed speech and language development	2/2	OMIM:301076
2742	GLRA2	HP:0000717	Autism	2/2	OMIM:301076
2742	GLRA2	HP:0011463	Childhood onset	2/2	OMIM:301076
2742	GLRA2	HP:0011003	High myopia	1/2	OMIM:301076
2742	GLRA2	HP:0000403	Recurrent otitis media	1/2	OMIM:301076
2743	GLRB	HP:0001276	Hypertonia	1/1	OMIM:614619
2743	GLRB	HP:0001276	Hypertonia	HP:0040281	ORPHA:3197
2743	GLRB	HP:0001270	Motor delay	1/1	OMIM:614619
2743	GLRB	HP:0001288	Gait disturbance	HP:0040282	ORPHA:3197
2743	GLRB	HP:0001250	Seizure	HP:0040283	ORPHA:3197
2743	GLRB	HP:0001251	Ataxia	HP:0040281	ORPHA:3197
2743	GLRB	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3197
2743	GLRB	HP:0001249	Intellectual disability	1/9	OMIM:614619
2743	GLRB	HP:0001257	Spasticity	HP:0040281	ORPHA:3197
2743	GLRB	HP:0001373	Joint dislocation	HP:0040283	ORPHA:3197
2743	GLRB	HP:0001387	Joint stiffness	HP:0040281	ORPHA:3197
2743	GLRB	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:3197
2743	GLRB	HP:0001347	Hyperreflexia	1/1	OMIM:614619
2743	GLRB	HP:0000007	Autosomal recessive inheritance	-	OMIM:614619
2743	GLRB	HP:0001336	Myoclonus	1/1	OMIM:614619
2743	GLRB	HP:0001336	Myoclonus	HP:0040281	ORPHA:3197
2743	GLRB	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:3197
2743	GLRB	HP:0002020	Gastroesophageal reflux	1/1	OMIM:614619
2743	GLRB	HP:0002036	Hiatus hernia	HP:0040281	ORPHA:3197
2743	GLRB	HP:0002036	Hiatus hernia	1/1	OMIM:614619
2743	GLRB	HP:0030904	Glabellar reflex	2/9	OMIM:614619
2743	GLRB	HP:0002063	Rigidity	HP:0040281	ORPHA:3197
2743	GLRB	HP:0010519	Increased fetal movement	9/9	OMIM:614619
2743	GLRB	HP:0002267	Exaggerated startle response	1/1	OMIM:614619
2743	GLRB	HP:0003577	Congenital onset	9/9	OMIM:614619
2743	GLRB	HP:0003552	Muscle stiffness	HP:0040281	ORPHA:3197
2743	GLRB	HP:0003552	Muscle stiffness	9/9	OMIM:614619
2743	GLRB	HP:0100790	Hernia	HP:0040282	ORPHA:3197
2743	GLRB	HP:0002380	Fasciculations	HP:0040281	ORPHA:3197
2743	GLRB	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:3197
2743	GLRB	HP:0100633	Esophagitis	HP:0040281	ORPHA:3197
2743	GLRB	HP:0003623	Neonatal onset	1/1	OMIM:614619
2743	GLRB	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:3197
2743	GLRB	HP:0002827	Hip dislocation	HP:0040283	ORPHA:3197
2743	GLRB	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:3197
2743	GLRB	HP:0000483	Astigmatism	-	OMIM:614619
2743	GLRB	HP:0000565	Esotropia	7/9	OMIM:614619
2743	GLRB	HP:0000545	Myopia	-	OMIM:614619
2744	GLS	HP:0007305	CNS demyelination	1/3	OMIM:618328
2744	GLS	HP:0010851	EEG with burst suppression	3/3	OMIM:618328
2744	GLS	HP:0009879	Simplified gyral pattern	2/3	OMIM:618328
2744	GLS	HP:0001272	Cerebellar atrophy	1/3	OMIM:618412
2744	GLS	HP:0001250	Seizure	4/4	OMIM:618328
2744	GLS	HP:0001252	Hypotonia	3/3	OMIM:618328
2744	GLS	HP:0001263	Global developmental delay	1/1	OMIM:618339
2744	GLS	HP:0001263	Global developmental delay	3/3	OMIM:618412
2744	GLS	HP:0000007	Autosomal recessive inheritance	-	OMIM:618328
2744	GLS	HP:0000007	Autosomal recessive inheritance	-	OMIM:618412
2744	GLS	HP:0000006	Autosomal dominant inheritance	-	OMIM:618339
2744	GLS	HP:0012196	Cheyne-Stokes respiration	1/4	OMIM:618328
2744	GLS	HP:0001482	Subcutaneous nodule	1/1	OMIM:618339
2744	GLS	HP:0008936	Axial hypotonia	1/1	OMIM:618339
2744	GLS	HP:0002751	Kyphoscoliosis	1/1	OMIM:618339
2744	GLS	HP:0002093	Respiratory insufficiency	4/4	OMIM:618328
2744	GLS	HP:0002073	Progressive cerebellar ataxia	3/3	OMIM:618412
2744	GLS	HP:0002188	Delayed CNS myelination	1/1	OMIM:618339
2744	GLS	HP:0002194	Delayed gross motor development	3/3	OMIM:618412
2744	GLS	HP:0002171	Gliosis	1/3	OMIM:618328
2744	GLS	HP:0003593	Infantile onset	1/1	OMIM:618339
2744	GLS	HP:0003577	Congenital onset	4/4	OMIM:618328
2744	GLS	HP:0100716	Self-injurious behavior	1/1	OMIM:618339
2744	GLS	HP:0200134	Epileptic encephalopathy	4/4	OMIM:618328
2744	GLS	HP:0001036	Parakeratosis	1/1	OMIM:618339
2744	GLS	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/3	OMIM:618412
2744	GLS	HP:0000750	Delayed speech and language development	3/3	OMIM:618412
2744	GLS	HP:0000713	Agitation	1/1	OMIM:618339
2744	GLS	HP:0011463	Childhood onset	3/3	OMIM:618412
2744	GLS	HP:0000817	Reduced eye contact	1/1	OMIM:618339
2744	GLS	HP:0003217	Hyperglutaminemia	3/3	OMIM:618412
2744	GLS	HP:0000962	Hyperkeratosis	1/1	OMIM:618339
2744	GLS	HP:0002878	Respiratory failure	3/4	OMIM:618328
2744	GLS	HP:0005484	Secondary microcephaly	1/1	OMIM:618339
2746	GLUD1	HP:0001249	Intellectual disability	-	OMIM:606762
2746	GLUD1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:35878
2746	GLUD1	HP:0012051	Reactive hypoglycemia	HP:0040281	ORPHA:35878
2746	GLUD1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:35878
2746	GLUD1	HP:0001325	Hypoglycemic coma	-	OMIM:606762
2746	GLUD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:606762
2746	GLUD1	HP:0008162	Asymptomatic hyperammonemia	HP:0040281	ORPHA:35878
2746	GLUD1	HP:0008162	Asymptomatic hyperammonemia	5/5	OMIM:606762
2746	GLUD1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:35878
2746	GLUD1	HP:0002197	Generalized-onset seizure	HP:0040282	ORPHA:35878
2746	GLUD1	HP:0002173	Hypoglycemic seizures	-	OMIM:606762
2746	GLUD1	HP:0008283	Fasting hyperinsulinemia	HP:0040282	ORPHA:35878
2746	GLUD1	HP:0003593	Infantile onset	3/5	OMIM:606762
2746	GLUD1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:35878
2746	GLUD1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:35878
2746	GLUD1	HP:0003623	Neonatal onset	2/5	OMIM:606762
2746	GLUD1	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040282	ORPHA:35878
2746	GLUD1	HP:0000825	Hyperinsulinemic hypoglycemia	5/5	OMIM:606762
2746	GLUD1	HP:0006476	Abnormality of the pancreatic islet cells	0/5	OMIM:606762
2746	GLUD1	HP:0001508	Failure to thrive	4/5	OMIM:606762
2746	GLUD1	HP:0011198	EEG with generalized epileptiform discharges	HP:0040282	ORPHA:35878
2746	GLUD1	HP:0012402	Increased urine alpha-ketoglutarate concentration	HP:0040282	ORPHA:35878
2752	GLUL	HP:0500147	Hypoglutaminemia	2/2	OMIM:610015
2752	GLUL	HP:0500147	Hypoglutaminemia	2/8	OMIM:620806
2752	GLUL	HP:0500198	Decreased CSF glutamine concentration	3/3	OMIM:610015
2752	GLUL	HP:0500198	Decreased CSF glutamine concentration	2/7	OMIM:620806
2752	GLUL	HP:0002416	Subependymal cysts	1/2	OMIM:610015
2752	GLUL	HP:0001298	Encephalopathy	-	OMIM:610015
2752	GLUL	HP:0001290	Generalized hypotonia	1/1	OMIM:610015
2752	GLUL	HP:0001250	Seizure	3/3	OMIM:610015
2752	GLUL	HP:0001252	Hypotonia	9/9	OMIM:620806
2752	GLUL	HP:0001252	Hypotonia	1/2	OMIM:610015
2752	GLUL	HP:0007359	Focal-onset seizure	1/1	OMIM:620806
2752	GLUL	HP:0003811	Neonatal death	2/2	OMIM:610015
2752	GLUL	HP:0001371	Flexion contracture	1/2	OMIM:610015
2752	GLUL	HP:0033725	Thin corpus callosum	5/7	OMIM:620806
2752	GLUL	HP:0000007	Autosomal recessive inheritance	-	OMIM:610015
2752	GLUL	HP:0000006	Autosomal dominant inheritance	-	OMIM:620806
2752	GLUL	HP:0002643	Neonatal respiratory distress	2/2	OMIM:610015
2752	GLUL	HP:0002069	Bilateral tonic-clonic seizure	6/8	OMIM:620806
2752	GLUL	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:610015
2752	GLUL	HP:0002121	Generalized non-motor (absence) seizure	1/9	OMIM:620806
2752	GLUL	HP:0003429	CNS hypomyelination	7/7	OMIM:620806
2752	GLUL	HP:0003429	CNS hypomyelination	-	OMIM:610015
2752	GLUL	HP:0002104	Apnea	1/1	OMIM:610015
2752	GLUL	HP:0002197	Generalized-onset seizure	1/1	OMIM:620806
2752	GLUL	HP:0002266	Focal clonic seizure	2/9	OMIM:620806
2752	GLUL	HP:0003593	Infantile onset	7/8	OMIM:620806
2752	GLUL	HP:0002205	Recurrent respiratory infections	1/1	OMIM:610015
2752	GLUL	HP:0200134	Epileptic encephalopathy	8/8	OMIM:620806
2752	GLUL	HP:0002395	Lower limb hyperreflexia	1/1	OMIM:610015
2752	GLUL	HP:0010783	Erythema	1/2	OMIM:610015
2752	GLUL	HP:0011344	Severe global developmental delay	1/1	OMIM:610015
2752	GLUL	HP:0001987	Hyperammonemia	1/1	OMIM:610015
2752	GLUL	HP:0006956	Lateral ventricle dilatation	1/2	OMIM:610015
2752	GLUL	HP:0030674	Antenatal onset	-	OMIM:610015
2752	GLUL	HP:0012736	Profound global developmental delay	9/9	OMIM:620806
2752	GLUL	HP:0011463	Childhood onset	1/8	OMIM:620806
2752	GLUL	HP:0003196	Short nose	1/2	OMIM:610015
2752	GLUL	HP:0000233	Thin vermilion border	1/2	OMIM:610015
2752	GLUL	HP:0012385	Camptodactyly	1/2	OMIM:610015
2752	GLUL	HP:0000369	Low-set ears	2/2	OMIM:610015
2752	GLUL	HP:0032792	Tonic seizure	2/9	OMIM:620806
2752	GLUL	HP:0002983	Micromelia	1/2	OMIM:610015
2752	GLUL	HP:0032794	Myoclonic seizure	2/2	OMIM:620806
2752	GLUL	HP:0001662	Bradycardia	1/1	OMIM:610015
2752	GLUL	HP:0011170	Generalized myoclonic-atonic seizure	1/9	OMIM:620806
2752	GLUL	HP:0011166	Focal myoclonic seizure	1/9	OMIM:620806
2752	GLUL	HP:0005280	Depressed nasal bridge	1/2	OMIM:610015
2752	GLUL	HP:0012469	Infantile spasms	1/9	OMIM:620806
2752	GLUL	HP:0000463	Anteverted nares	1/2	OMIM:610015
2752	GLUL	HP:0012444	Brain atrophy	1/1	OMIM:610015
2752	GLUL	HP:0000431	Wide nasal bridge	1/2	OMIM:610015
2752	GLUL	HP:0012520	Dilation of Virchow-Robin spaces	5/7	OMIM:620806
2760	GM2A	HP:0002478	Progressive spastic quadriplegia	HP:0040281	ORPHA:309246
2760	GM2A	HP:0002476	Primitive reflex	HP:0040282	ORPHA:309246
2760	GM2A	HP:0002476	Primitive reflex	-	OMIM:272750
2760	GM2A	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:309246
2760	GM2A	HP:0007256	Abnormal pyramidal sign	-	OMIM:272750
2760	GM2A	HP:0002421	Poor head control	-	OMIM:272750
2760	GM2A	HP:0001290	Generalized hypotonia	-	OMIM:272750
2760	GM2A	HP:0001276	Hypertonia	-	OMIM:272750
2760	GM2A	HP:0001285	Spastic tetraparesis	-	OMIM:272750
2760	GM2A	HP:0001250	Seizure	HP:0040282	ORPHA:309246
2760	GM2A	HP:0001250	Seizure	-	OMIM:272750
2760	GM2A	HP:0001252	Hypotonia	1/1	OMIM:272750
2760	GM2A	HP:0001263	Global developmental delay	1/1	OMIM:272750
2760	GM2A	HP:0100852	Abnormal fear-induced behavior	HP:0040281	ORPHA:309246
2760	GM2A	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:309246
2760	GM2A	HP:0001347	Hyperreflexia	-	OMIM:272750
2760	GM2A	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:309246
2760	GM2A	HP:0001332	Dystonia	HP:0040281	ORPHA:309246
2760	GM2A	HP:0001332	Dystonia	-	OMIM:272750
2760	GM2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:272750
2760	GM2A	HP:0008936	Axial hypotonia	HP:0040281	ORPHA:309246
2760	GM2A	HP:0008936	Axial hypotonia	-	OMIM:272750
2760	GM2A	HP:0030904	Glabellar reflex	HP:0040282	ORPHA:309246
2760	GM2A	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:309246
2760	GM2A	HP:0002072	Chorea	HP:0040282	ORPHA:309246
2760	GM2A	HP:0002072	Chorea	-	OMIM:272750
2760	GM2A	HP:0002059	Cerebral atrophy	HP:0040281	ORPHA:309246
2760	GM2A	HP:0002059	Cerebral atrophy	-	OMIM:272750
2760	GM2A	HP:0003470	Paralysis	-	OMIM:272750
2760	GM2A	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:309246
2760	GM2A	HP:0002180	Neurodegeneration	-	OMIM:272750
2760	GM2A	HP:0003495	GM2-ganglioside accumulation	1/1	OMIM:272750
2760	GM2A	HP:0002267	Exaggerated startle response	HP:0040281	ORPHA:309246
2760	GM2A	HP:0002267	Exaggerated startle response	1/1	OMIM:272750
2760	GM2A	HP:0003593	Infantile onset	1/1	OMIM:272750
2760	GM2A	HP:0002200	Pseudobulbar signs	HP:0040283	ORPHA:309246
2760	GM2A	HP:0010729	Cherry red spot of the macula	HP:0040282	ORPHA:309246
2760	GM2A	HP:0002376	Developmental regression	HP:0040281	ORPHA:309246
2760	GM2A	HP:0002371	Loss of speech	HP:0040282	ORPHA:309246
2760	GM2A	HP:0002371	Loss of speech	-	OMIM:272750
2760	GM2A	HP:0010780	Hyperacusis	HP:0040281	ORPHA:309246
2760	GM2A	HP:0010780	Hyperacusis	-	OMIM:272750
2760	GM2A	HP:0000618	Blindness	-	OMIM:272750
2760	GM2A	HP:0004322	Short stature	HP:0040281	ORPHA:309246
2760	GM2A	HP:0000739	Anxiety	HP:0040282	ORPHA:309246
2760	GM2A	HP:0000741	Apathy	-	OMIM:272750
2760	GM2A	HP:0000719	Inappropriate behavior	HP:0040282	ORPHA:309246
2760	GM2A	HP:0000726	Dementia	-	OMIM:272750
2760	GM2A	HP:0030081	Punctate periventricular T2 hyperintense foci	HP:0040283	ORPHA:309246
2760	GM2A	HP:0002835	Aspiration	-	OMIM:272750
2760	GM2A	HP:0032794	Myoclonic seizure	1/1	OMIM:272750
2760	GM2A	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:309246
2767	GNA11	HP:0010920	Zonular cataract	HP:0040283	ORPHA:39044
2767	GNA11	HP:0100814	Blue nevus	HP:0040283	ORPHA:1556
2767	GNA11	HP:0001250	Seizure	HP:0040281	ORPHA:1556
2767	GNA11	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:428
2767	GNA11	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:1556
2767	GNA11	HP:0007400	Irregular hyperpigmentation	HP:0040283	ORPHA:428
2767	GNA11	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:428
2767	GNA11	HP:0012055	Ciliary body melanoma	HP:0040282	ORPHA:39044
2767	GNA11	HP:0012054	Choroidal melanoma	HP:0040281	ORPHA:39044
2767	GNA11	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:1556
2767	GNA11	HP:0008897	Postnatal growth retardation	HP:0040283	OMIM:615361
2767	GNA11	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:1556
2767	GNA11	HP:0000006	Autosomal dominant inheritance	20/20	OMIM:145981
2767	GNA11	HP:0000006	Autosomal dominant inheritance	-	OMIM:615361
2767	GNA11	HP:0002650	Scoliosis	HP:0040283	ORPHA:1556
2767	GNA11	HP:0002615	Hypotension	HP:0040282	ORPHA:428
2767	GNA11	HP:0000121	Nephrocalcinosis	HP:0040282	ORPHA:428
2767	GNA11	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:428
2767	GNA11	HP:0002027	Abdominal pain	HP:0040282	ORPHA:428
2767	GNA11	HP:0100529	Abnormal blood phosphate concentration	0/2	OMIM:615361
2767	GNA11	HP:0100533	Inflammatory abnormality of the eye	HP:0040284	ORPHA:39044
2767	GNA11	HP:0100545	Arterial stenosis	HP:0040283	ORPHA:1556
2767	GNA11	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:1556
2767	GNA11	HP:0100555	Asymmetric growth	HP:0040283	ORPHA:1556
2767	GNA11	HP:0003394	Muscle spasm	1/2	OMIM:615361
2767	GNA11	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:1556
2767	GNA11	HP:0003473	Fatigable weakness	HP:0040281	ORPHA:428
2767	GNA11	HP:0002150	Hypercalciuria	HP:0040281	ORPHA:428
2767	GNA11	HP:0002135	Basal ganglia calcification	HP:0040283	OMIM:615361
2767	GNA11	HP:0003457	EMG abnormality	HP:0040281	ORPHA:428
2767	GNA11	HP:0008200	Primary hyperparathyroidism	-	OMIM:145981
2767	GNA11	HP:0003401	Paresthesia	HP:0040281	ORPHA:428
2767	GNA11	HP:0003401	Paresthesia	1/2	OMIM:615361
2767	GNA11	HP:0003581	Adult onset	2/2	OMIM:615361
2767	GNA11	HP:0003529	Parathormone-independent increased renal tubular calcium reabsorption	-	OMIM:145981
2767	GNA11	HP:0001012	Multiple lipomas	-	OMIM:145981
2767	GNA11	HP:0002356	Writer's cramp	HP:0040281	ORPHA:428
2767	GNA11	HP:0200026	Ocular pain	HP:0040284	ORPHA:39044
2767	GNA11	HP:0001098	Abnormal fundus morphology	HP:0040281	ORPHA:39044
2767	GNA11	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:1556
2767	GNA11	HP:0200041	Skin erosion	HP:0040281	ORPHA:1556
2767	GNA11	HP:0008494	Inferior lens subluxation	HP:0040283	ORPHA:39044
2767	GNA11	HP:0000648	Optic atrophy	HP:0040283	ORPHA:428
2767	GNA11	HP:0012608	Hypermagnesiuria	HP:0040282	ORPHA:428
2767	GNA11	HP:0001933	Subcutaneous hemorrhage	HP:0040281	ORPHA:1556
2767	GNA11	HP:0003072	Hypercalcemia	-	OMIM:145981
2767	GNA11	HP:0004398	Peptic ulcer	HP:0040283	OMIM:145981
2767	GNA11	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:428
2767	GNA11	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:428
2767	GNA11	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:1556
2767	GNA11	HP:0100026	Arteriovenous malformation	HP:0040281	ORPHA:1556
2767	GNA11	HP:0000739	Anxiety	HP:0040281	ORPHA:428
2767	GNA11	HP:0000716	Depression	HP:0040281	ORPHA:428
2767	GNA11	HP:0000712	Emotional lability	HP:0040281	ORPHA:428
2767	GNA11	HP:0000708	Atypical behavior	HP:0040281	ORPHA:428
2767	GNA11	HP:0011499	Mydriasis	HP:0040283	ORPHA:39044
2767	GNA11	HP:0000787	Nephrolithiasis	HP:0040283	OMIM:145981
2767	GNA11	HP:0030786	Photopsia	HP:0040283	ORPHA:39044
2767	GNA11	HP:0003127	Hypocalciuria	-	OMIM:145981
2767	GNA11	HP:0011524	Iris melanoma	HP:0040282	ORPHA:39044
2767	GNA11	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1556
2767	GNA11	HP:0030800	Abnormal visual accommodation	HP:0040283	ORPHA:39044
2767	GNA11	HP:0000979	Purpura	HP:0040283	ORPHA:1556
2767	GNA11	HP:0000958	Dry skin	HP:0040282	ORPHA:428
2767	GNA11	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:1556
2767	GNA11	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:1556
2767	GNA11	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:428
2767	GNA11	HP:0000934	Chondrocalcinosis	-	OMIM:145981
2767	GNA11	HP:0040148	Cortical myoclonus	HP:0040281	ORPHA:428
2767	GNA11	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1556
2767	GNA11	HP:0011675	Arrhythmia	HP:0040282	ORPHA:428
2767	GNA11	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:428
2767	GNA11	HP:0001596	Alopecia	HP:0040282	ORPHA:428
2767	GNA11	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:1556
2767	GNA11	HP:0002814	Abnormality of the lower limb	HP:0040281	ORPHA:1556
2767	GNA11	HP:0006385	Short lower limbs	HP:0040281	ORPHA:1556
2767	GNA11	HP:0001541	Ascites	HP:0040283	ORPHA:1556
2767	GNA11	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:1556
2767	GNA11	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:1556
2767	GNA11	HP:0002917	Hypomagnesemia	HP:0040282	ORPHA:428
2767	GNA11	HP:0002918	Hypermagnesemia	10/10	OMIM:145981
2767	GNA11	HP:0002905	Hyperphosphatemia	HP:0040282	ORPHA:428
2767	GNA11	HP:0002901	Hypocalcemia	HP:0040281	ORPHA:428
2767	GNA11	HP:0002901	Hypocalcemia	2/2	OMIM:615361
2767	GNA11	HP:0000347	Micrognathia	HP:0040283	ORPHA:1556
2767	GNA11	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1556
2767	GNA11	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:428
2767	GNA11	HP:0007902	Vitreous hemorrhage	HP:0040283	ORPHA:39044
2767	GNA11	HP:0007906	Ocular hypertension	HP:0040283	ORPHA:39044
2767	GNA11	HP:0005306	Capillary hemangioma	HP:0040283	ORPHA:1556
2767	GNA11	HP:0001733	Pancreatitis	-	OMIM:145981
2767	GNA11	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:1556
2767	GNA11	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:39044
2767	GNA11	HP:0000555	Leukocoria	HP:0040282	ORPHA:1556
2767	GNA11	HP:0000572	Visual loss	HP:0040281	ORPHA:39044
2767	GNA11	HP:0000541	Retinal detachment	HP:0040282	ORPHA:39044
2767	GNA11	HP:0000541	Retinal detachment	HP:0040282	ORPHA:1556
2767	GNA11	HP:0000539	Abnormality of refraction	HP:0040283	ORPHA:39044
2770	GNAI1	HP:0001182	Tapered finger	9/24	OMIM:619854
2770	GNAI1	HP:0025162	Severe temper tantrums	7/19	OMIM:619854
2770	GNAI1	HP:0001276	Hypertonia	2/23	OMIM:619854
2770	GNAI1	HP:0001250	Seizure	17/23	OMIM:619854
2770	GNAI1	HP:0001252	Hypotonia	21/23	OMIM:619854
2770	GNAI1	HP:0001249	Intellectual disability	20/20	OMIM:619854
2770	GNAI1	HP:0001263	Global developmental delay	24/24	OMIM:619854
2770	GNAI1	HP:0025336	Delayed ability to sit	21/23	OMIM:619854
2770	GNAI1	HP:0001344	Absent speech	16/21	OMIM:619854
2770	GNAI1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619854
2770	GNAI1	HP:0012171	Stereotypical hand wringing	6/19	OMIM:619854
2770	GNAI1	HP:0000179	Thick lower lip vermilion	4/24	OMIM:619854
2770	GNAI1	HP:0002069	Bilateral tonic-clonic seizure	5/23	OMIM:619854
2770	GNAI1	HP:0002121	Generalized non-motor (absence) seizure	5/23	OMIM:619854
2770	GNAI1	HP:0011968	Feeding difficulties	9/24	OMIM:619854
2770	GNAI1	HP:0002384	Focal impaired awareness seizure	4/23	OMIM:619854
2770	GNAI1	HP:0010804	Tented upper lip vermilion	5/24	OMIM:619854
2770	GNAI1	HP:0031936	Delayed ability to walk	20/20	OMIM:619854
2770	GNAI1	HP:0000750	Delayed speech and language development	22/23	OMIM:619854
2770	GNAI1	HP:0000729	Autistic behavior	7/21	OMIM:619854
2770	GNAI1	HP:0003196	Short nose	8/24	OMIM:619854
2770	GNAI1	HP:0000219	Thin upper lip vermilion	4/24	OMIM:619854
2770	GNAI1	HP:0001513	Obesity	7/24	OMIM:619854
2770	GNAI1	HP:0000463	Anteverted nares	8/24	OMIM:619854
2770	GNAI1	HP:0001847	Long hallux	5/24	OMIM:619854
2771	GNAI2	HP:0000006	Autosomal dominant inheritance	-	OMIM:192605
2771	GNAI2	HP:0001442	Typified by somatic mosaicism	-	OMIM:192605
2771	GNAI2	HP:0011712	Complete right bundle branch block	-	OMIM:192605
2771	GNAI2	HP:0004751	Paroxysmal ventricular tachycardia	1/1	OMIM:192605
2771	GNAI2	HP:0003581	Adult onset	1/1	OMIM:192605
2771	GNAI2	HP:0001645	Sudden cardiac death	-	OMIM:192605
2771	GNAI2	HP:0001638	Cardiomyopathy	0/1	OMIM:192605
2773	GNAI3	HP:0009902	Cleft helix	HP:0040281	ORPHA:137888
2773	GNAI3	HP:0009895	Abnormality of the crus of the helix	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0008559	Hypoplastic superior helix	-	OMIM:602483
2773	GNAI3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2773	GNAI3	HP:0001293	Cranial nerve compression	-	OMIM:131300
2773	GNAI3	HP:0025267	Snoring	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0025267	Snoring	-	OMIM:602483
2773	GNAI3	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:137888
2773	GNAI3	HP:0001252	Hypotonia	2/7	OMIM:615777
2773	GNAI3	HP:0001249	Intellectual disability	5/7	OMIM:615777
2773	GNAI3	HP:0001263	Global developmental delay	HP:0040283	ORPHA:137888
2773	GNAI3	HP:0001263	Global developmental delay	-	OMIM:615777
2773	GNAI3	HP:0008772	Aplasia/Hypoplasia of the external ear	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0002515	Waddling gait	54/102	OMIM:131300
2773	GNAI3	HP:0031013	Ankylosis	-	OMIM:602483
2773	GNAI3	HP:0001382	Joint hypermobility	-	OMIM:615777
2773	GNAI3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2773	GNAI3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2773	GNAI3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2773	GNAI3	HP:0001324	Muscle weakness	40/96	OMIM:131300
2773	GNAI3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2773	GNAI3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2773	GNAI3	HP:0000006	Autosomal dominant inheritance	-	OMIM:602483
2773	GNAI3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2773	GNAI3	HP:0002650	Scoliosis	12/14	OMIM:131300
2773	GNAI3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2773	GNAI3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2773	GNAI3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2773	GNAI3	HP:0000183	Tongue muscle weakness	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2773	GNAI3	HP:0000193	Bifid uvula	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0000160	Narrow mouth	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0000160	Narrow mouth	52%	OMIM:602483
2773	GNAI3	HP:0000162	Glossoptosis	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0000162	Glossoptosis	46%	OMIM:602483
2773	GNAI3	HP:0000175	Cleft palate	-	OMIM:602483
2773	GNAI3	HP:0000175	Cleft palate	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0000175	Cleft palate	2/7	OMIM:615777
2773	GNAI3	HP:0000171	Microglossia	HP:0040283	ORPHA:137888
2773	GNAI3	HP:0007627	Mandibular condyle aplasia	HP:0040283	ORPHA:137888
2773	GNAI3	HP:0007627	Mandibular condyle aplasia	-	OMIM:602483
2773	GNAI3	HP:0007628	Mandibular condyle hypoplasia	HP:0040281	ORPHA:137888
2773	GNAI3	HP:0007628	Mandibular condyle hypoplasia	-	OMIM:602483
2773	GNAI3	HP:0011802	Hamartoma of tongue	HP:0040283	ORPHA:137888
2773	GNAI3	HP:0002098	Respiratory distress	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0003388	Easy fatigability	36/76	OMIM:131300
2773	GNAI3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2773	GNAI3	HP:0002104	Apnea	-	OMIM:602483
2773	GNAI3	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:137888
2773	GNAI3	HP:0003510	Severe short stature	7/7	OMIM:615777
2773	GNAI3	HP:0002315	Headache	-	OMIM:131300
2773	GNAI3	HP:0004976	Knee dislocation	6/7	OMIM:615777
2773	GNAI3	HP:0008537	Cleft at the superior portion of the pinna	-	OMIM:602483
2773	GNAI3	HP:0009803	Short phalanx of finger	-	OMIM:615777
2773	GNAI3	HP:0010754	Abnormality of the temporomandibular joint	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0009763	Limb pain	63/92	OMIM:131300
2773	GNAI3	HP:0003621	Juvenile onset	-	OMIM:131300
2773	GNAI3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2773	GNAI3	HP:0009088	Speech articulation difficulties	-	OMIM:602483
2773	GNAI3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2773	GNAI3	HP:6001056	Out-toeing	-	OMIM:131300
2773	GNAI3	HP:0000651	Diplopia	-	OMIM:131300
2773	GNAI3	HP:0001956	Truncal obesity	2/7	OMIM:615777
2773	GNAI3	HP:0001903	Anemia	HP:0040283	OMIM:131300
2773	GNAI3	HP:0010049	Short metacarpal	-	OMIM:615777
2773	GNAI3	HP:0000678	Dental crowding	-	OMIM:615777
2773	GNAI3	HP:0000678	Dental crowding	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0000678	Dental crowding	-	OMIM:602483
2773	GNAI3	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0000689	Dental malocclusion	-	OMIM:602483
2773	GNAI3	HP:0000670	Carious teeth	-	OMIM:131300
2773	GNAI3	HP:0011304	Broad thumb	2/7	OMIM:615777
2773	GNAI3	HP:0000668	Hypodontia	-	OMIM:615777
2773	GNAI3	HP:0000664	Synophrys	-	OMIM:615777
2773	GNAI3	HP:0004396	Poor appetite	-	OMIM:131300
2773	GNAI3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2773	GNAI3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2773	GNAI3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2773	GNAI3	HP:0003026	Short long bone	7/7	OMIM:615777
2773	GNAI3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2773	GNAI3	HP:0009102	Anterior open-bite malocclusion	-	OMIM:602483
2773	GNAI3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2773	GNAI3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2773	GNAI3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2773	GNAI3	HP:0000750	Delayed speech and language development	-	OMIM:615777
2773	GNAI3	HP:0011461	Fetal onset	7/7	OMIM:615777
2773	GNAI3	HP:0000774	Narrow chest	2/7	OMIM:615777
2773	GNAI3	HP:0004453	Overfolding of the superior helices	-	OMIM:602483
2773	GNAI3	HP:0004451	Postauricular skin tag	-	OMIM:602483
2773	GNAI3	HP:0000926	Platyspondyly	1/7	OMIM:615777
2773	GNAI3	HP:0003180	Flat acetabular roof	-	OMIM:615777
2773	GNAI3	HP:0004482	Relative macrocephaly	-	OMIM:615777
2773	GNAI3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2773	GNAI3	HP:0030713	Vein of Galen aneurysmal malformation	HP:0040284	ORPHA:137888
2773	GNAI3	HP:0000823	Delayed puberty	-	OMIM:131300
2773	GNAI3	HP:0000894	Short clavicles	-	OMIM:615777
2773	GNAI3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2773	GNAI3	HP:0100277	Periauricular skin pits	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2773	GNAI3	HP:0000286	Epicanthus	1/7	OMIM:615777
2773	GNAI3	HP:0000280	Coarse facial features	2/7	OMIM:615777
2773	GNAI3	HP:0000293	Full cheeks	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0000256	Macrocephaly	-	OMIM:602483
2773	GNAI3	HP:0000256	Macrocephaly	HP:0040283	ORPHA:137888
2773	GNAI3	HP:0002827	Hip dislocation	3/7	OMIM:615777
2773	GNAI3	HP:0000252	Microcephaly	-	OMIM:615777
2773	GNAI3	HP:0002857	Genu valgum	-	OMIM:131300
2773	GNAI3	HP:0002870	Obstructive sleep apnea	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0030022	Question mark ear	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0001533	Slender build	-	OMIM:131300
2773	GNAI3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2773	GNAI3	HP:0007807	Optic nerve compression	-	OMIM:131300
2773	GNAI3	HP:0000384	Preauricular skin tag	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0000384	Preauricular skin tag	-	OMIM:602483
2773	GNAI3	HP:0012368	Flat face	7/7	OMIM:615777
2773	GNAI3	HP:0000378	Cupped ear	-	OMIM:602483
2773	GNAI3	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0005216	Impaired mastication	-	OMIM:602483
2773	GNAI3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2773	GNAI3	HP:0000365	Hearing impairment	HP:0040283	ORPHA:137888
2773	GNAI3	HP:0000365	Hearing impairment	10/67	OMIM:131300
2773	GNAI3	HP:0000358	Posteriorly rotated ears	-	OMIM:602483
2773	GNAI3	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0000369	Low-set ears	-	OMIM:602483
2773	GNAI3	HP:0000343	Long philtrum	1/7	OMIM:615777
2773	GNAI3	HP:0011001	Increased bone mineral density	-	OMIM:131300
2773	GNAI3	HP:0000347	Micrognathia	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0000347	Micrognathia	71%	OMIM:602483
2773	GNAI3	HP:0000311	Round face	2/7	OMIM:615777
2773	GNAI3	HP:0000311	Round face	-	OMIM:602483
2773	GNAI3	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:137888
2773	GNAI3	HP:0002970	Genu varum	-	OMIM:615777
2773	GNAI3	HP:0000303	Mandibular prognathia	-	OMIM:131300
2773	GNAI3	HP:0000402	Stenosis of the external auditory canal	30%	OMIM:602483
2773	GNAI3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2773	GNAI3	HP:0000470	Short neck	1/7	OMIM:615777
2773	GNAI3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2773	GNAI3	HP:0001763	Pes planus	1/7	OMIM:615777
2773	GNAI3	HP:0001840	Metatarsus adductus	-	OMIM:615777
2773	GNAI3	HP:0000520	Proptosis	2/4	OMIM:131300
2773	GNAI3	HP:0000520	Proptosis	7/7	OMIM:615777
2773	GNAI3	HP:0000508	Ptosis	HP:0040283	ORPHA:137888
2773	GNAI3	HP:0000592	Blue sclerae	2/7	OMIM:615777
2773	GNAI3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2773	GNAI3	HP:0012514	Lower limb pain	4/4	OMIM:131300
2774	GNAL	HP:0002451	Limb dystonia	-	OMIM:615073
2774	GNAL	HP:0002451	Limb dystonia	HP:0040282	ORPHA:329466
2774	GNAL	HP:0002530	Axial dystonia	HP:0040282	ORPHA:329466
2774	GNAL	HP:0031008	Lingual dystonia	HP:0040282	ORPHA:329466
2774	GNAL	HP:0031008	Lingual dystonia	-	OMIM:615073
2774	GNAL	HP:0012049	Laryngeal dystonia	-	OMIM:615073
2774	GNAL	HP:0012049	Laryngeal dystonia	HP:0040282	ORPHA:329466
2774	GNAL	HP:0000006	Autosomal dominant inheritance	-	OMIM:615073
2774	GNAL	HP:0012179	Craniofacial dystonia	HP:0040282	ORPHA:329466
2774	GNAL	HP:0003581	Adult onset	-	OMIM:615073
2774	GNAL	HP:0003621	Juvenile onset	-	OMIM:615073
2774	GNAL	HP:0004373	Focal dystonia	HP:0040281	ORPHA:329466
2774	GNAL	HP:0001618	Dysphonia	-	OMIM:615073
2774	GNAL	HP:0000473	Torticollis	-	OMIM:615073
2774	GNAL	HP:0000473	Torticollis	HP:0040282	ORPHA:329466
2775	GNAO1	HP:0002487	Hyperkinetic movements	-	OMIM:617493
2775	GNAO1	HP:0010864	Intellectual disability, severe	4/4	OMIM:617493
2775	GNAO1	HP:0010851	EEG with burst suppression	3/4	OMIM:615473
2775	GNAO1	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:1934
2775	GNAO1	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0002421	Poor head control	3/4	OMIM:617493
2775	GNAO1	HP:0002421	Poor head control	HP:0040282	ORPHA:1934
2775	GNAO1	HP:0001290	Generalized hypotonia	-	OMIM:617493
2775	GNAO1	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0001272	Cerebellar atrophy	1/4	OMIM:617493
2775	GNAO1	HP:0001254	Lethargy	HP:0040282	ORPHA:1934
2775	GNAO1	HP:0001250	Seizure	HP:0040280	ORPHA:1934
2775	GNAO1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1934
2775	GNAO1	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0001263	Global developmental delay	2/4	OMIM:617493
2775	GNAO1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1934
2775	GNAO1	HP:0001263	Global developmental delay	4/4	OMIM:615473
2775	GNAO1	HP:0001257	Spasticity	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0001257	Spasticity	-	OMIM:617493
2775	GNAO1	HP:0007366	Atrophy/Degeneration affecting the brainstem	1/4	OMIM:617493
2775	GNAO1	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0002540	Inability to walk	3/3	OMIM:615473
2775	GNAO1	HP:0002521	Hypsarrhythmia	2/4	OMIM:615473
2775	GNAO1	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:1934
2775	GNAO1	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0000070	Ureterocele	HP:0040284	ORPHA:1934
2775	GNAO1	HP:0000054	Micropenis	HP:0040284	ORPHA:1934
2775	GNAO1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1934
2775	GNAO1	HP:0001332	Dystonia	1/4	OMIM:615473
2775	GNAO1	HP:0001332	Dystonia	HP:0040284	ORPHA:1934
2775	GNAO1	HP:0001332	Dystonia	-	OMIM:617493
2775	GNAO1	HP:0001344	Absent speech	4/4	OMIM:615473
2775	GNAO1	HP:0001344	Absent speech	3/4	OMIM:617493
2775	GNAO1	HP:0001337	Tremor	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617493
2775	GNAO1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615473
2775	GNAO1	HP:0001336	Myoclonus	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0001302	Pachygyria	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0000175	Cleft palate	HP:0040284	ORPHA:1934
2775	GNAO1	HP:0008947	Floppy infant	HP:0040282	ORPHA:1934
2775	GNAO1	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:1934
2775	GNAO1	HP:0002033	Poor suck	HP:0040282	ORPHA:1934
2775	GNAO1	HP:0002015	Dysphagia	HP:0040282	ORPHA:1934
2775	GNAO1	HP:0002015	Dysphagia	-	OMIM:617493
2775	GNAO1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0002069	Bilateral tonic-clonic seizure	1/4	OMIM:617493
2775	GNAO1	HP:0002079	Hypoplasia of the corpus callosum	2/4	OMIM:615473
2775	GNAO1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0002079	Hypoplasia of the corpus callosum	2/4	OMIM:617493
2775	GNAO1	HP:0002072	Chorea	2/4	OMIM:617493
2775	GNAO1	HP:0002072	Chorea	1/4	OMIM:615473
2775	GNAO1	HP:0002059	Cerebral atrophy	2/4	OMIM:615473
2775	GNAO1	HP:0002059	Cerebral atrophy	3/4	OMIM:617493
2775	GNAO1	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:1934
2775	GNAO1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0002119	Ventriculomegaly	-	OMIM:617493
2775	GNAO1	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0002188	Delayed CNS myelination	2/4	OMIM:615473
2775	GNAO1	HP:0002188	Delayed CNS myelination	1/4	OMIM:617493
2775	GNAO1	HP:0003593	Infantile onset	2/4	OMIM:615473
2775	GNAO1	HP:0003593	Infantile onset	3/4	OMIM:617493
2775	GNAO1	HP:0100716	Self-injurious behavior	-	OMIM:617493
2775	GNAO1	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1934
2775	GNAO1	HP:0200134	Epileptic encephalopathy	2/4	OMIM:617493
2775	GNAO1	HP:0200134	Epileptic encephalopathy	4/4	OMIM:615473
2775	GNAO1	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:1934
2775	GNAO1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1934
2775	GNAO1	HP:0002384	Focal impaired awareness seizure	3/4	OMIM:617493
2775	GNAO1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:1934
2775	GNAO1	HP:0002376	Developmental regression	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1934
2775	GNAO1	HP:0010841	Multifocal epileptiform discharges	2/4	OMIM:617493
2775	GNAO1	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0100660	Dyskinesia	-	OMIM:617493
2775	GNAO1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0010819	Atonic seizure	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0010818	Generalized tonic seizure	4/4	OMIM:615473
2775	GNAO1	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0003623	Neonatal onset	2/4	OMIM:615473
2775	GNAO1	HP:0003623	Neonatal onset	1/4	OMIM:617493
2775	GNAO1	HP:0002310	Orofacial dyskinesia	-	OMIM:617493
2775	GNAO1	HP:0002305	Athetosis	1/4	OMIM:617493
2775	GNAO1	HP:0002305	Athetosis	1/4	OMIM:615473
2775	GNAO1	HP:0004305	Involuntary movements	-	OMIM:617493
2775	GNAO1	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0010174	Broad phalanx of the toes	HP:0040284	ORPHA:1934
2775	GNAO1	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1934
2775	GNAO1	HP:0009381	Short finger	HP:0040284	ORPHA:1934
2775	GNAO1	HP:0000252	Microcephaly	HP:0040284	OMIM:617493
2775	GNAO1	HP:0000252	Microcephaly	HP:0040284	ORPHA:1934
2775	GNAO1	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1934
2775	GNAO1	HP:0001508	Failure to thrive	HP:0040284	ORPHA:1934
2775	GNAO1	HP:0001500	Broad finger	HP:0040284	ORPHA:1934
2775	GNAO1	HP:0000340	Sloping forehead	HP:0040284	ORPHA:1934
2775	GNAO1	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:1934
2775	GNAO1	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0011167	Focal tonic seizure	1/4	OMIM:615473
2775	GNAO1	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:1934
2775	GNAO1	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:1934
2775	GNAO1	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:1934
2775	GNAO1	HP:0000486	Strabismus	HP:0040284	ORPHA:1934
2775	GNAO1	HP:0012469	Infantile spasms	1/4	OMIM:617493
2775	GNAO1	HP:0012469	Infantile spasms	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1934
2775	GNAO1	HP:0012448	Delayed myelination	HP:0040283	ORPHA:1934
2775	GNAO1	HP:0012554	Absent thumbnail	HP:0040284	ORPHA:1934
2776	GNAQ	HP:0001131	Corneal dystrophy	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0001123	Visual field defect	HP:0040282	ORPHA:3205
2776	GNAQ	HP:0010920	Zonular cataract	HP:0040283	ORPHA:39044
2776	GNAQ	HP:0009926	Epiphora	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0003745	Sporadic	-	OMIM:185300
2776	GNAQ	HP:0001100	Heterochromia iridis	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0001297	Stroke	HP:0040282	ORPHA:3205
2776	GNAQ	HP:0001291	Abnormal cranial nerve morphology	HP:0040283	ORPHA:624
2776	GNAQ	HP:0001269	Hemiparesis	HP:0040283	ORPHA:624
2776	GNAQ	HP:0001250	Seizure	HP:0040281	ORPHA:3205
2776	GNAQ	HP:0001250	Seizure	HP:0040283	ORPHA:624
2776	GNAQ	HP:0001250	Seizure	-	OMIM:185300
2776	GNAQ	HP:0001249	Intellectual disability	HP:0040282	ORPHA:3205
2776	GNAQ	HP:0001249	Intellectual disability	HP:0040283	ORPHA:624
2776	GNAQ	HP:0001249	Intellectual disability	-	OMIM:185300
2776	GNAQ	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:624
2776	GNAQ	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:624
2776	GNAQ	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0012055	Ciliary body melanoma	HP:0040282	ORPHA:39044
2776	GNAQ	HP:0012054	Choroidal melanoma	HP:0040281	ORPHA:39044
2776	GNAQ	HP:0012019	Lens luxation	HP:0040282	ORPHA:3205
2776	GNAQ	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:3205
2776	GNAQ	HP:0000006	Autosomal dominant inheritance	-	OMIM:163000
2776	GNAQ	HP:0002650	Scoliosis	HP:0040283	ORPHA:624
2776	GNAQ	HP:0002015	Dysphagia	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0100533	Inflammatory abnormality of the eye	HP:0040284	ORPHA:39044
2776	GNAQ	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:624
2776	GNAQ	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0002120	Cerebral cortical atrophy	-	OMIM:185300
2776	GNAQ	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:624
2776	GNAQ	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:624
2776	GNAQ	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0100774	Hyperostosis	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0100761	Visceral angiomatosis	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:3205
2776	GNAQ	HP:0001052	Nevus flammeus	-	OMIM:163000
2776	GNAQ	HP:0001052	Nevus flammeus	HP:0040281	ORPHA:624
2776	GNAQ	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:624
2776	GNAQ	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0002315	Headache	HP:0040282	ORPHA:3205
2776	GNAQ	HP:0200026	Ocular pain	HP:0040284	ORPHA:39044
2776	GNAQ	HP:0200026	Ocular pain	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:3205
2776	GNAQ	HP:0200034	Papule	HP:0040282	ORPHA:624
2776	GNAQ	HP:0001098	Abnormal fundus morphology	HP:0040281	ORPHA:39044
2776	GNAQ	HP:0200042	Skin ulcer	HP:0040283	ORPHA:624
2776	GNAQ	HP:0008494	Inferior lens subluxation	HP:0040283	ORPHA:39044
2776	GNAQ	HP:0002301	Hemiplegia	HP:0040283	ORPHA:624
2776	GNAQ	HP:0002308	Chiari malformation	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:624
2776	GNAQ	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0000648	Optic atrophy	HP:0040282	ORPHA:3205
2776	GNAQ	HP:0000618	Blindness	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0000612	Iris coloboma	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0000610	Abnormal choroid morphology	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0100026	Arteriovenous malformation	HP:0040281	ORPHA:624
2776	GNAQ	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:3205
2776	GNAQ	HP:0000729	Autistic behavior	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0000708	Atypical behavior	HP:0040282	ORPHA:3205
2776	GNAQ	HP:0011499	Mydriasis	HP:0040283	ORPHA:39044
2776	GNAQ	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:3205
2776	GNAQ	HP:0030786	Photopsia	HP:0040283	ORPHA:39044
2776	GNAQ	HP:0011524	Iris melanoma	HP:0040282	ORPHA:39044
2776	GNAQ	HP:0030800	Abnormal visual accommodation	HP:0040283	ORPHA:39044
2776	GNAQ	HP:0000996	Facial capillary hemangioma	HP:0040281	ORPHA:3205
2776	GNAQ	HP:0034323	Reduced circulating growth hormone concentration	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0000969	Edema	HP:0040283	ORPHA:624
2776	GNAQ	HP:0008046	Abnormal retinal vascular morphology	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0011675	Arrhythmia	HP:0040283	ORPHA:624
2776	GNAQ	HP:0000256	Macrocephaly	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0000256	Macrocephaly	-	OMIM:185300
2776	GNAQ	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:624
2776	GNAQ	HP:0002814	Abnormality of the lower limb	HP:0040283	ORPHA:624
2776	GNAQ	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0012222	Arachnoid hemangiomatosis	-	OMIM:185300
2776	GNAQ	HP:0012222	Arachnoid hemangiomatosis	HP:0040282	ORPHA:3205
2776	GNAQ	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0012377	Hemianopia	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0007872	Choroidal hemangioma	-	OMIM:185300
2776	GNAQ	HP:0007872	Choroidal hemangioma	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0000329	Facial hemangioma	-	OMIM:185300
2776	GNAQ	HP:0007902	Vitreous hemorrhage	HP:0040283	ORPHA:39044
2776	GNAQ	HP:0007906	Ocular hypertension	HP:0040283	ORPHA:39044
2776	GNAQ	HP:0005306	Capillary hemangioma	HP:0040281	ORPHA:3205
2776	GNAQ	HP:0005293	Venous insufficiency	HP:0040283	ORPHA:624
2776	GNAQ	HP:0000486	Strabismus	HP:0040282	ORPHA:3205
2776	GNAQ	HP:0012469	Infantile spasms	HP:0040282	ORPHA:3205
2776	GNAQ	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:39044
2776	GNAQ	HP:0000524	Conjunctival telangiectasia	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0000501	Glaucoma	HP:0040282	ORPHA:3205
2776	GNAQ	HP:0000501	Glaucoma	HP:0040283	ORPHA:624
2776	GNAQ	HP:0000557	Buphthalmos	-	OMIM:185300
2776	GNAQ	HP:0000557	Buphthalmos	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0000572	Visual loss	HP:0040281	ORPHA:39044
2776	GNAQ	HP:0000572	Visual loss	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0000541	Retinal detachment	HP:0040282	ORPHA:39044
2776	GNAQ	HP:0000541	Retinal detachment	HP:0040283	ORPHA:3205
2776	GNAQ	HP:0000539	Abnormality of refraction	HP:0040283	ORPHA:39044
2778	GNAS	HP:0001156	Brachydactyly	HP:0040283	OMIM:603233
2778	GNAS	HP:0001156	Brachydactyly	HP:0040282	ORPHA:79443
2778	GNAS	HP:0001156	Brachydactyly	HP:0040282	ORPHA:79444
2778	GNAS	HP:0001156	Brachydactyly	HP:0040282	ORPHA:79445
2778	GNAS	HP:0001156	Brachydactyly	-	OMIM:612463
2778	GNAS	HP:0001156	Brachydactyly	-	OMIM:612462
2778	GNAS	HP:0001156	Brachydactyly	HP:0040283	ORPHA:2762
2778	GNAS	HP:0001156	Brachydactyly	2/2	OMIM:103580
2778	GNAS	HP:0003745	Sporadic	-	OMIM:219080
2778	GNAS	HP:0003745	Sporadic	-	OMIM:603233
2778	GNAS	HP:0003761	Calcinosis	-	ORPHA:94089
2778	GNAS	HP:0003761	Calcinosis	HP:0040283	ORPHA:79443
2778	GNAS	HP:0003761	Calcinosis	HP:0040283	ORPHA:79444
2778	GNAS	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2778	GNAS	HP:0003739	Myoclonic spasms	HP:0040283	ORPHA:94089
2778	GNAS	HP:0003739	Myoclonic spasms	HP:0040283	ORPHA:79443
2778	GNAS	HP:0003739	Myoclonic spasms	HP:0040283	ORPHA:79444
2778	GNAS	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:189427
2778	GNAS	HP:0001293	Cranial nerve compression	-	OMIM:131300
2778	GNAS	HP:0001268	Mental deterioration	-	OMIM:219080
2778	GNAS	HP:0001289	Confusion	HP:0040283	ORPHA:79443
2778	GNAS	HP:0001289	Confusion	HP:0040283	ORPHA:79444
2778	GNAS	HP:0001250	Seizure	-	OMIM:612462
2778	GNAS	HP:0001250	Seizure	-	OMIM:103580
2778	GNAS	HP:0001252	Hypotonia	2/7	OMIM:615777
2778	GNAS	HP:0001249	Intellectual disability	HP:0040282	ORPHA:79443
2778	GNAS	HP:0001249	Intellectual disability	HP:0040282	ORPHA:79444
2778	GNAS	HP:0001249	Intellectual disability	HP:0040283	ORPHA:79445
2778	GNAS	HP:0001249	Intellectual disability	HP:0040283	OMIM:612463
2778	GNAS	HP:0001249	Intellectual disability	1/6	OMIM:612462
2778	GNAS	HP:0001249	Intellectual disability	-	OMIM:103580
2778	GNAS	HP:0001249	Intellectual disability	5/7	OMIM:615777
2778	GNAS	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:79443
2778	GNAS	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:79444
2778	GNAS	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:94089
2778	GNAS	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:79443
2778	GNAS	HP:0002591	Polyphagia	HP:0040282	ORPHA:79443
2778	GNAS	HP:0002591	Polyphagia	HP:0040282	ORPHA:79444
2778	GNAS	HP:0001263	Global developmental delay	-	OMIM:615777
2778	GNAS	HP:6000657	Pancreatic intraductal papillary mucinous neoplasm	-	OMIM:174800
2778	GNAS	HP:0008768	Abnormal sexual behavior	HP:0040283	ORPHA:562
2778	GNAS	HP:0031072	Abnormal endocrine physiology	HP:0040281	ORPHA:562
2778	GNAS	HP:0031077	Abnormal response to corticotropin releasing hormone stimulation test	HP:0040282	ORPHA:189427
2778	GNAS	HP:0002515	Waddling gait	54/102	OMIM:131300
2778	GNAS	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:79443
2778	GNAS	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:79444
2778	GNAS	HP:0031013	Ankylosis	-	OMIM:166350
2778	GNAS	HP:0025383	Dorsocervical fat pad	HP:0040282	ORPHA:189427
2778	GNAS	HP:0012063	Aneurysmal bone cyst	HP:0040284	ORPHA:562
2778	GNAS	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:189427
2778	GNAS	HP:0001396	Cholestasis	HP:0040284	ORPHA:562
2778	GNAS	HP:0012049	Laryngeal dystonia	HP:0040283	ORPHA:94089
2778	GNAS	HP:0012049	Laryngeal dystonia	HP:0040283	ORPHA:79443
2778	GNAS	HP:0012049	Laryngeal dystonia	HP:0040283	ORPHA:79444
2778	GNAS	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:2762
2778	GNAS	HP:0012028	Hepatocellular adenoma	HP:0040283	ORPHA:562
2778	GNAS	HP:0012030	Increased urinary cortisol level	HP:0040282	ORPHA:189427
2778	GNAS	HP:0001382	Joint hypermobility	-	OMIM:615777
2778	GNAS	HP:0000053	Macroorchidism	HP:0040282	ORPHA:562
2778	GNAS	HP:0002684	Thickened calvaria	HP:0040282	ORPHA:79443
2778	GNAS	HP:0002684	Thickened calvaria	-	OMIM:103580
2778	GNAS	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2778	GNAS	HP:0000035	Abnormal testis morphology	HP:0040282	ORPHA:562
2778	GNAS	HP:0002693	Abnormal skull base morphology	HP:0040282	ORPHA:562
2778	GNAS	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2778	GNAS	HP:0003909	Cortical subperiosteal resorption of humeral metaphyses	HP:0040283	ORPHA:94089
2778	GNAS	HP:0002664	Neoplasm	-	OMIM:219080
2778	GNAS	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:189427
2778	GNAS	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2778	GNAS	HP:0001324	Muscle weakness	40/96	OMIM:131300
2778	GNAS	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2778	GNAS	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2778	GNAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:603233
2778	GNAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:166350
2778	GNAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2778	GNAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:612463
2778	GNAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:612462
2778	GNAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:103580
2778	GNAS	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:57782
2778	GNAS	HP:0002653	Bone pain	1/1	OMIM:174800
2778	GNAS	HP:0002653	Bone pain	HP:0040283	ORPHA:562
2778	GNAS	HP:0002653	Bone pain	HP:0040281	ORPHA:2762
2778	GNAS	HP:0002653	Bone pain	HP:0040283	ORPHA:57782
2778	GNAS	HP:0002650	Scoliosis	HP:0040282	ORPHA:562
2778	GNAS	HP:0002650	Scoliosis	12/14	OMIM:131300
2778	GNAS	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2778	GNAS	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2778	GNAS	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2778	GNAS	HP:0033794	Acral overgrowth	-	OMIM:617686
2778	GNAS	HP:0033794	Acral overgrowth	-	OMIM:174800
2778	GNAS	HP:0012185	Constrictive median neuropathy	HP:0040282	ORPHA:79443
2778	GNAS	HP:0012185	Constrictive median neuropathy	HP:0040282	ORPHA:79444
2778	GNAS	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2778	GNAS	HP:6000869	Sclerotic ilium	1/1	OMIM:174800
2778	GNAS	HP:0000175	Cleft palate	2/7	OMIM:615777
2778	GNAS	HP:0000144	Decreased fertility	HP:0040283	ORPHA:562
2778	GNAS	HP:0000135	Hypogonadism	-	OMIM:612462
2778	GNAS	HP:0000135	Hypogonadism	-	OMIM:103580
2778	GNAS	HP:0000138	Ovarian cyst	HP:0040281	ORPHA:562
2778	GNAS	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:2762
2778	GNAS	HP:0012115	Hepatitis	HP:0040284	ORPHA:562
2778	GNAS	HP:0006297	Enamel hypoplasia	HP:0040282	ORPHA:94089
2778	GNAS	HP:0006297	Enamel hypoplasia	-	OMIM:612463
2778	GNAS	HP:0006297	Enamel hypoplasia	-	OMIM:612462
2778	GNAS	HP:0006297	Enamel hypoplasia	HP:0040282	ORPHA:79443
2778	GNAS	HP:0006297	Enamel hypoplasia	HP:0040282	ORPHA:79444
2778	GNAS	HP:0006297	Enamel hypoplasia	-	OMIM:103580
2778	GNAS	HP:0500011	Moon facies	HP:0040281	ORPHA:189427
2778	GNAS	HP:0000117	Renal phosphate wasting	HP:0040283	ORPHA:562
2778	GNAS	HP:0000124	Renal tubular dysfunction	HP:0040282	ORPHA:562
2778	GNAS	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:562
2778	GNAS	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:57782
2778	GNAS	HP:0002758	Osteoarthritis	HP:0040283	ORPHA:2762
2778	GNAS	HP:0002756	Pathologic fracture	-	OMIM:174800
2778	GNAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:174800
2778	GNAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:219080
2778	GNAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:617686
2778	GNAS	HP:0002749	Osteomalacia	HP:0040283	ORPHA:562
2778	GNAS	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:562
2778	GNAS	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:189427
2778	GNAS	HP:0100543	Cognitive impairment	-	OMIM:612463
2778	GNAS	HP:0100543	Cognitive impairment	-	OMIM:612462
2778	GNAS	HP:0100543	Cognitive impairment	-	OMIM:103580
2778	GNAS	HP:0002094	Dyspnea	HP:0040283	ORPHA:79443
2778	GNAS	HP:0002094	Dyspnea	HP:0040283	ORPHA:79444
2778	GNAS	HP:0002094	Dyspnea	HP:0040283	ORPHA:94089
2778	GNAS	HP:0003394	Muscle spasm	HP:0040283	ORPHA:94089
2778	GNAS	HP:0003394	Muscle spasm	HP:0040283	ORPHA:79443
2778	GNAS	HP:0003394	Muscle spasm	HP:0040283	ORPHA:79444
2778	GNAS	HP:0003388	Easy fatigability	36/76	OMIM:131300
2778	GNAS	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2778	GNAS	HP:0011760	Pituitary growth hormone cell adenoma	-	OMIM:617686
2778	GNAS	HP:0003472	Hypocalcemic tetany	-	OMIM:612462
2778	GNAS	HP:0003472	Hypocalcemic tetany	-	OMIM:103580
2778	GNAS	HP:0003472	Hypocalcemic tetany	HP:0040283	ORPHA:94089
2778	GNAS	HP:0003472	Hypocalcemic tetany	HP:0040283	ORPHA:79443
2778	GNAS	HP:0003472	Hypocalcemic tetany	HP:0040283	ORPHA:79444
2778	GNAS	HP:0002148	Hypophosphatemia	HP:0040284	ORPHA:562
2778	GNAS	HP:0003456	Low urinary cyclic AMP response to PTH administration	-	OMIM:612462
2778	GNAS	HP:0003456	Low urinary cyclic AMP response to PTH administration	-	OMIM:603233
2778	GNAS	HP:0003456	Low urinary cyclic AMP response to PTH administration	-	OMIM:103580
2778	GNAS	HP:0003456	Low urinary cyclic AMP response to PTH administration	HP:0040281	ORPHA:94089
2778	GNAS	HP:0003456	Low urinary cyclic AMP response to PTH administration	HP:0040281	ORPHA:79443
2778	GNAS	HP:0003456	Low urinary cyclic AMP response to PTH administration	HP:0040281	ORPHA:79444
2778	GNAS	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0040282	ORPHA:189427
2778	GNAS	HP:0002135	Basal ganglia calcification	-	OMIM:612462
2778	GNAS	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:79443
2778	GNAS	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:79444
2778	GNAS	HP:0002135	Basal ganglia calcification	-	OMIM:103580
2778	GNAS	HP:0002199	Hypocalcemic seizures	HP:0040284	ORPHA:94089
2778	GNAS	HP:0002199	Hypocalcemic seizures	HP:0040284	ORPHA:79443
2778	GNAS	HP:0002199	Hypocalcemic seizures	HP:0040284	ORPHA:79444
2778	GNAS	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:79443
2778	GNAS	HP:0008231	Macronodular adrenal hyperplasia	HP:0040280	ORPHA:189427
2778	GNAS	HP:0008231	Macronodular adrenal hyperplasia	-	OMIM:219080
2778	GNAS	HP:0011869	Abnormal platelet function	HP:0040283	ORPHA:79443
2778	GNAS	HP:0008221	Adrenal hyperplasia	-	OMIM:219080
2778	GNAS	HP:0008227	Pituitary resistance to thyroid hormone	HP:0040284	ORPHA:94089
2778	GNAS	HP:0008227	Pituitary resistance to thyroid hormone	HP:0040281	ORPHA:79443
2778	GNAS	HP:0008227	Pituitary resistance to thyroid hormone	HP:0040281	ORPHA:79444
2778	GNAS	HP:0008200	Primary hyperparathyroidism	HP:0040284	ORPHA:189427
2778	GNAS	HP:0008202	Reduced circulating prolactin concentration	HP:0040284	ORPHA:79443
2778	GNAS	HP:0008202	Reduced circulating prolactin concentration	HP:0040284	ORPHA:79444
2778	GNAS	HP:0011821	Abnormal facial skeleton morphology	HP:0040282	ORPHA:562
2778	GNAS	HP:0003401	Paresthesia	HP:0040283	ORPHA:94089
2778	GNAS	HP:0003401	Paresthesia	HP:0040283	ORPHA:562
2778	GNAS	HP:0003401	Paresthesia	HP:0040283	ORPHA:79443
2778	GNAS	HP:0003401	Paresthesia	HP:0040283	ORPHA:79444
2778	GNAS	HP:0004704	Short fifth metatarsal	HP:0040282	ORPHA:79443
2778	GNAS	HP:0004704	Short fifth metatarsal	HP:0040282	ORPHA:79444
2778	GNAS	HP:0008291	Pituitary corticotropic cell adenoma	-	OMIM:617686
2778	GNAS	HP:0003593	Infantile onset	1/1	OMIM:103580
2778	GNAS	HP:0003593	Infantile onset	-	OMIM:166350
2778	GNAS	HP:0003581	Adult onset	-	OMIM:219080
2778	GNAS	HP:0003528	Elevated circulating calcitonin concentration	HP:0040284	ORPHA:79443
2778	GNAS	HP:0100749	Chest pain	HP:0040283	ORPHA:94089
2778	GNAS	HP:0100749	Chest pain	HP:0040283	ORPHA:79443
2778	GNAS	HP:0100749	Chest pain	HP:0040283	ORPHA:79444
2778	GNAS	HP:0100754	Mania	HP:0040283	ORPHA:189427
2778	GNAS	HP:0011986	Ectopic ossification	HP:0040282	ORPHA:79443
2778	GNAS	HP:0011986	Ectopic ossification	HP:0040282	ORPHA:79444
2778	GNAS	HP:0011986	Ectopic ossification	HP:0040282	ORPHA:79445
2778	GNAS	HP:0011987	Ectopic ossification in muscle tissue	-	OMIM:166350
2778	GNAS	HP:0011987	Ectopic ossification in muscle tissue	HP:0040282	ORPHA:2762
2778	GNAS	HP:0009650	Short distal phalanx of the thumb	HP:0040283	ORPHA:79445
2778	GNAS	HP:0009642	Broad distal phalanx of the thumb	HP:0040283	ORPHA:79443
2778	GNAS	HP:0009642	Broad distal phalanx of the thumb	HP:0040283	ORPHA:79444
2778	GNAS	HP:0003510	Severe short stature	7/7	OMIM:615777
2778	GNAS	HP:0025027	Osteoma cutis	-	OMIM:166350
2778	GNAS	HP:0025027	Osteoma cutis	HP:0040283	ORPHA:79443
2778	GNAS	HP:0025027	Osteoma cutis	HP:0040283	ORPHA:79444
2778	GNAS	HP:0025027	Osteoma cutis	HP:0040283	ORPHA:79445
2778	GNAS	HP:0001050	Plethora	HP:0040282	ORPHA:189427
2778	GNAS	HP:0001065	Striae distensae	-	OMIM:219080
2778	GNAS	HP:0001065	Striae distensae	HP:0040282	ORPHA:189427
2778	GNAS	HP:0001061	Acne	HP:0040283	ORPHA:189427
2778	GNAS	HP:0001034	Hypermelanotic macule	HP:0040283	ORPHA:2762
2778	GNAS	HP:0003676	Progressive	-	OMIM:166350
2778	GNAS	HP:0001007	Hirsutism	HP:0040282	ORPHA:189427
2778	GNAS	HP:0002354	Memory impairment	HP:0040283	ORPHA:189427
2778	GNAS	HP:0002315	Headache	-	OMIM:131300
2778	GNAS	HP:0004976	Knee dislocation	6/7	OMIM:615777
2778	GNAS	HP:0100660	Dyskinesia	HP:0040283	ORPHA:94089
2778	GNAS	HP:0200034	Papule	HP:0040283	ORPHA:2762
2778	GNAS	HP:0009826	Limb undergrowth	-	OMIM:166350
2778	GNAS	HP:0200008	Intestinal polyposis	-	OMIM:174800
2778	GNAS	HP:0009803	Short phalanx of finger	-	OMIM:615777
2778	GNAS	HP:0100634	Neuroendocrine neoplasm	HP:0040284	ORPHA:189427
2778	GNAS	HP:0020110	Bone fracture	HP:0040283	ORPHA:562
2778	GNAS	HP:0010791	Hyperplasia of the Leydig cells	HP:0040283	ORPHA:562
2778	GNAS	HP:0010766	Ectopic calcification	-	ORPHA:94089
2778	GNAS	HP:0010766	Ectopic calcification	HP:0040281	ORPHA:2762
2778	GNAS	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:189427
2778	GNAS	HP:0010743	Short metatarsal	-	OMIM:612463
2778	GNAS	HP:0010743	Short metatarsal	-	OMIM:612462
2778	GNAS	HP:0010743	Short metatarsal	HP:0040282	ORPHA:79443
2778	GNAS	HP:0010743	Short metatarsal	HP:0040282	ORPHA:79444
2778	GNAS	HP:0010743	Short metatarsal	HP:0040282	ORPHA:79445
2778	GNAS	HP:0010743	Short metatarsal	-	OMIM:103580
2778	GNAS	HP:0009763	Limb pain	63/92	OMIM:131300
2778	GNAS	HP:0010736	Monostotic fibrous dysplasia	HP:0040282	ORPHA:562
2778	GNAS	HP:0010735	Polyostotic fibrous dysplasia	HP:0040283	ORPHA:562
2778	GNAS	HP:0010735	Polyostotic fibrous dysplasia	11/11	OMIM:174800
2778	GNAS	HP:0010734	Fibrous dysplasia of the bones	HP:0040282	ORPHA:562
2778	GNAS	HP:0010734	Fibrous dysplasia of the bones	HP:0040281	ORPHA:57782
2778	GNAS	HP:0003621	Juvenile onset	1/1	OMIM:174800
2778	GNAS	HP:0003621	Juvenile onset	-	OMIM:166350
2778	GNAS	HP:0003621	Juvenile onset	-	OMIM:131300
2778	GNAS	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2778	GNAS	HP:0005528	Bone marrow hypocellularity	HP:0040284	ORPHA:562
2778	GNAS	HP:0031845	Abnormal libido	HP:0040282	ORPHA:189427
2778	GNAS	HP:0005584	Renal cell carcinoma	HP:0040284	ORPHA:189427
2778	GNAS	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2778	GNAS	HP:0000639	Nystagmus	HP:0040282	ORPHA:79443
2778	GNAS	HP:0000639	Nystagmus	HP:0040282	ORPHA:79444
2778	GNAS	HP:0000639	Nystagmus	-	OMIM:103580
2778	GNAS	HP:0000639	Nystagmus	HP:0040282	ORPHA:94089
2778	GNAS	HP:0000639	Nystagmus	-	OMIM:612463
2778	GNAS	HP:0000639	Nystagmus	-	OMIM:612462
2778	GNAS	HP:6001056	Out-toeing	-	OMIM:131300
2778	GNAS	HP:0000651	Diplopia	-	OMIM:131300
2778	GNAS	HP:0000618	Blindness	-	OMIM:174800
2778	GNAS	HP:0001956	Truncal obesity	-	OMIM:219080
2778	GNAS	HP:0001956	Truncal obesity	2/7	OMIM:615777
2778	GNAS	HP:0001952	Glucose intolerance	HP:0040282	ORPHA:189427
2778	GNAS	HP:0004180	Short distal phalanx of the 3rd finger	HP:0040283	ORPHA:79445
2778	GNAS	HP:0001903	Anemia	HP:0040283	OMIM:131300
2778	GNAS	HP:0010049	Short metacarpal	HP:0040283	OMIM:603233
2778	GNAS	HP:0010049	Short metacarpal	-	OMIM:615777
2778	GNAS	HP:0010049	Short metacarpal	-	OMIM:612463
2778	GNAS	HP:0010049	Short metacarpal	6/6	OMIM:612462
2778	GNAS	HP:0010049	Short metacarpal	HP:0040282	ORPHA:79443
2778	GNAS	HP:0010049	Short metacarpal	HP:0040282	ORPHA:79444
2778	GNAS	HP:0010049	Short metacarpal	-	OMIM:103580
2778	GNAS	HP:0010047	Short 5th metacarpal	HP:0040282	ORPHA:79443
2778	GNAS	HP:0010047	Short 5th metacarpal	HP:0040282	ORPHA:79444
2778	GNAS	HP:0010047	Short 5th metacarpal	HP:0040282	ORPHA:79445
2778	GNAS	HP:0010041	Short 3rd metacarpal	HP:0040283	ORPHA:79443
2778	GNAS	HP:0010041	Short 3rd metacarpal	HP:0040283	ORPHA:79444
2778	GNAS	HP:0010044	Short 4th metacarpal	HP:0040282	ORPHA:79443
2778	GNAS	HP:0010044	Short 4th metacarpal	HP:0040282	ORPHA:79444
2778	GNAS	HP:0010044	Short 4th metacarpal	HP:0040282	ORPHA:79445
2778	GNAS	HP:0010027	Broad 1st metacarpal	HP:0040282	ORPHA:79443
2778	GNAS	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:94089
2778	GNAS	HP:0000684	Delayed eruption of teeth	-	OMIM:612463
2778	GNAS	HP:0000684	Delayed eruption of teeth	-	OMIM:612462
2778	GNAS	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:79443
2778	GNAS	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:79444
2778	GNAS	HP:0000684	Delayed eruption of teeth	-	OMIM:103580
2778	GNAS	HP:0000678	Dental crowding	-	OMIM:615777
2778	GNAS	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:562
2778	GNAS	HP:0000670	Carious teeth	-	OMIM:131300
2778	GNAS	HP:0011304	Broad thumb	2/7	OMIM:615777
2778	GNAS	HP:0000668	Hypodontia	-	OMIM:615777
2778	GNAS	HP:0000664	Synophrys	-	OMIM:615777
2778	GNAS	HP:0004324	Increased body weight	HP:0040283	ORPHA:189427
2778	GNAS	HP:0004322	Short stature	HP:0040281	ORPHA:79443
2778	GNAS	HP:0004322	Short stature	HP:0040282	ORPHA:79444
2778	GNAS	HP:0004322	Short stature	HP:0040282	ORPHA:79445
2778	GNAS	HP:0004322	Short stature	-	OMIM:612463
2778	GNAS	HP:0004322	Short stature	2/6	OMIM:612462
2778	GNAS	HP:0004322	Short stature	2/2	OMIM:103580
2778	GNAS	HP:0004322	Short stature	HP:0040282	ORPHA:94089
2778	GNAS	HP:0003002	Breast carcinoma	HP:0040284	ORPHA:562
2778	GNAS	HP:0006960	Choroid plexus calcification	-	OMIM:612462
2778	GNAS	HP:0006960	Choroid plexus calcification	-	OMIM:103580
2778	GNAS	HP:0006960	Choroid plexus calcification	HP:0040282	ORPHA:79443
2778	GNAS	HP:0006960	Choroid plexus calcification	HP:0040282	ORPHA:79444
2778	GNAS	HP:0004305	Involuntary movements	HP:0040283	ORPHA:79443
2778	GNAS	HP:0005605	Large cafe-au-lait macules with irregular margins	HP:0040281	ORPHA:562
2778	GNAS	HP:0005605	Large cafe-au-lait macules with irregular margins	11/11	OMIM:174800
2778	GNAS	HP:0005616	Accelerated skeletal maturation	HP:0040282	ORPHA:562
2778	GNAS	HP:0003077	Hyperlipidemia	HP:0040282	ORPHA:189427
2778	GNAS	HP:0004396	Poor appetite	-	OMIM:131300
2778	GNAS	HP:0003034	Diaphyseal sclerosis	HP:0040283	ORPHA:94089
2778	GNAS	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2778	GNAS	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2778	GNAS	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2778	GNAS	HP:0003026	Short long bone	7/7	OMIM:615777
2778	GNAS	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2778	GNAS	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:79443
2778	GNAS	HP:0012743	Abdominal obesity	HP:0040282	ORPHA:189427
2778	GNAS	HP:0012733	Macule	HP:0040283	ORPHA:2762
2778	GNAS	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2778	GNAS	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2778	GNAS	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2778	GNAS	HP:0000737	Irritability	HP:0040283	ORPHA:79443
2778	GNAS	HP:0000737	Irritability	HP:0040283	ORPHA:79444
2778	GNAS	HP:0000737	Irritability	HP:0040283	ORPHA:94089
2778	GNAS	HP:0000739	Anxiety	HP:0040283	ORPHA:79443
2778	GNAS	HP:0000739	Anxiety	HP:0040283	ORPHA:79444
2778	GNAS	HP:0000739	Anxiety	-	OMIM:219080
2778	GNAS	HP:0000739	Anxiety	HP:0040283	ORPHA:94089
2778	GNAS	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:79445
2778	GNAS	HP:0000750	Delayed speech and language development	-	OMIM:615777
2778	GNAS	HP:0000716	Depression	HP:0040282	ORPHA:189427
2778	GNAS	HP:0000716	Depression	HP:0040283	ORPHA:79443
2778	GNAS	HP:0000716	Depression	HP:0040283	ORPHA:79444
2778	GNAS	HP:0000716	Depression	-	OMIM:219080
2778	GNAS	HP:0000716	Depression	HP:0040283	ORPHA:94089
2778	GNAS	HP:0000712	Emotional lability	-	OMIM:219080
2778	GNAS	HP:0000712	Emotional lability	HP:0040282	ORPHA:189427
2778	GNAS	HP:0000713	Agitation	-	OMIM:219080
2778	GNAS	HP:0000725	Psychotic episodes	HP:0040283	ORPHA:189427
2778	GNAS	HP:0000709	Psychosis	-	OMIM:219080
2778	GNAS	HP:0011458	Abdominal symptom	HP:0040283	ORPHA:94089
2778	GNAS	HP:0011458	Abdominal symptom	HP:0040283	ORPHA:79443
2778	GNAS	HP:0011458	Abdominal symptom	HP:0040283	ORPHA:79444
2778	GNAS	HP:0011461	Fetal onset	7/7	OMIM:615777
2778	GNAS	HP:0000774	Narrow chest	2/7	OMIM:615777
2778	GNAS	HP:0000787	Nephrolithiasis	HP:0040282	ORPHA:189427
2778	GNAS	HP:0003109	Hyperphosphaturia	HP:0040284	ORPHA:562
2778	GNAS	HP:0004438	Hyperostosis frontalis interna	HP:0040283	ORPHA:79443
2778	GNAS	HP:0003118	Increased circulating cortisol level	-	OMIM:174800
2778	GNAS	HP:0003118	Increased circulating cortisol level	-	OMIM:219080
2778	GNAS	HP:0003118	Increased circulating cortisol level	HP:0040284	ORPHA:562
2778	GNAS	HP:0003118	Increased circulating cortisol level	-	OMIM:617686
2778	GNAS	HP:0003118	Increased circulating cortisol level	HP:0040282	ORPHA:189427
2778	GNAS	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:57782
2778	GNAS	HP:0000926	Platyspondyly	1/7	OMIM:615777
2778	GNAS	HP:0034282	Subcutaneous ossification	2/2	OMIM:103580
2778	GNAS	HP:0003180	Flat acetabular roof	-	OMIM:615777
2778	GNAS	HP:0003154	Increased circulating ACTH level	-	OMIM:617686
2778	GNAS	HP:0004482	Relative macrocephaly	-	OMIM:615777
2778	GNAS	HP:0003165	Elevated circulating parathyroid hormone level	6/6	OMIM:612462
2778	GNAS	HP:0003165	Elevated circulating parathyroid hormone level	HP:0040281	ORPHA:94089
2778	GNAS	HP:0003165	Elevated circulating parathyroid hormone level	HP:0040281	ORPHA:79443
2778	GNAS	HP:0003165	Elevated circulating parathyroid hormone level	HP:0040281	ORPHA:79444
2778	GNAS	HP:0003165	Elevated circulating parathyroid hormone level	-	ORPHA:79445
2778	GNAS	HP:0003165	Elevated circulating parathyroid hormone level	-	OMIM:603233
2778	GNAS	HP:0003165	Elevated circulating parathyroid hormone level	1/2	OMIM:103580
2778	GNAS	HP:0004493	Craniofacial hyperostosis	-	OMIM:174800
2778	GNAS	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2778	GNAS	HP:0000876	Oligomenorrhea	HP:0040283	ORPHA:79443
2778	GNAS	HP:0000876	Oligomenorrhea	HP:0040283	ORPHA:79444
2778	GNAS	HP:0000859	Increased circulating aldosterone concentration	HP:0040284	ORPHA:189427
2778	GNAS	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:562
2778	GNAS	HP:0000858	Irregular menstruation	HP:0040282	ORPHA:189427
2778	GNAS	HP:0000853	Goiter	HP:0040283	ORPHA:562
2778	GNAS	HP:0000852	Pseudohypoparathyroidism	-	OMIM:612463
2778	GNAS	HP:0000852	Pseudohypoparathyroidism	6/6	OMIM:612462
2778	GNAS	HP:0000852	Pseudohypoparathyroidism	-	OMIM:603233
2778	GNAS	HP:0000852	Pseudohypoparathyroidism	2/2	OMIM:103580
2778	GNAS	HP:0000852	Pseudohypoparathyroidism	HP:0040280	ORPHA:94089
2778	GNAS	HP:0000852	Pseudohypoparathyroidism	HP:0040280	ORPHA:79443
2778	GNAS	HP:0000852	Pseudohypoparathyroidism	HP:0040280	ORPHA:79444
2778	GNAS	HP:0000870	Increased circulating prolactin concentration	-	OMIM:174800
2778	GNAS	HP:0000870	Increased circulating prolactin concentration	HP:0040283	ORPHA:562
2778	GNAS	HP:0000870	Increased circulating prolactin concentration	-	OMIM:617686
2778	GNAS	HP:0000836	Hyperthyroidism	1/1	OMIM:174800
2778	GNAS	HP:0000836	Hyperthyroidism	HP:0040282	ORPHA:562
2778	GNAS	HP:0000843	Hyperparathyroidism	-	OMIM:174800
2778	GNAS	HP:0000845	Elevated circulating growth hormone concentration	-	OMIM:174800
2778	GNAS	HP:0000845	Elevated circulating growth hormone concentration	HP:0040283	ORPHA:562
2778	GNAS	HP:0000845	Elevated circulating growth hormone concentration	-	OMIM:617686
2778	GNAS	HP:0000815	Hypergonadotropic hypogonadism	HP:0040283	ORPHA:79443
2778	GNAS	HP:0000815	Hypergonadotropic hypogonadism	HP:0040283	ORPHA:79444
2778	GNAS	HP:0000826	Precocious puberty	-	OMIM:174800
2778	GNAS	HP:0000826	Precocious puberty	HP:0040281	ORPHA:562
2778	GNAS	HP:0000828	Abnormality of the parathyroid gland	HP:0040283	ORPHA:2762
2778	GNAS	HP:0000822	Hypertension	HP:0040282	ORPHA:189427
2778	GNAS	HP:0000822	Hypertension	HP:0040283	ORPHA:79443
2778	GNAS	HP:0000822	Hypertension	-	OMIM:219080
2778	GNAS	HP:0000821	Hypothyroidism	-	OMIM:612462
2778	GNAS	HP:0000821	Hypothyroidism	1/2	OMIM:103580
2778	GNAS	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040284	ORPHA:94089
2778	GNAS	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:79443
2778	GNAS	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:79444
2778	GNAS	HP:0000823	Delayed puberty	-	OMIM:131300
2778	GNAS	HP:0000820	Abnormality of the thyroid gland	HP:0040282	ORPHA:562
2778	GNAS	HP:0005700	Increased bone density with cystic changes	HP:0040283	ORPHA:94089
2778	GNAS	HP:0040084	Abnormal circulating renin concentration	0/1	OMIM:174800
2778	GNAS	HP:0040085	Abnormal circulating aldosterone concentration	0/1	OMIM:174800
2778	GNAS	HP:0000894	Short clavicles	-	OMIM:615777
2778	GNAS	HP:0009237	Short 5th finger	HP:0040282	ORPHA:79445
2778	GNAS	HP:0003202	Skeletal muscle atrophy	-	OMIM:219080
2778	GNAS	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2778	GNAS	HP:0000978	Bruising susceptibility	-	OMIM:219080
2778	GNAS	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:189427
2778	GNAS	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2778	GNAS	HP:0000953	Hyperpigmentation of the skin	-	OMIM:617686
2778	GNAS	HP:0000963	Thin skin	-	OMIM:219080
2778	GNAS	HP:0000939	Osteoporosis	HP:0040282	ORPHA:189427
2778	GNAS	HP:0000939	Osteoporosis	-	OMIM:612463
2778	GNAS	HP:0000939	Osteoporosis	-	OMIM:612462
2778	GNAS	HP:0000939	Osteoporosis	-	OMIM:219080
2778	GNAS	HP:0000939	Osteoporosis	-	OMIM:103580
2778	GNAS	HP:0000938	Osteopenia	-	OMIM:219080
2778	GNAS	HP:0100242	Sarcoma	HP:0040283	ORPHA:2762
2778	GNAS	HP:0009381	Short finger	-	OMIM:103580
2778	GNAS	HP:0000286	Epicanthus	1/7	OMIM:615777
2778	GNAS	HP:0000280	Coarse facial features	2/7	OMIM:615777
2778	GNAS	HP:0000293	Full cheeks	HP:0040282	ORPHA:94089
2778	GNAS	HP:0000293	Full cheeks	-	OMIM:612463
2778	GNAS	HP:0000293	Full cheeks	-	OMIM:612462
2778	GNAS	HP:0000293	Full cheeks	HP:0040282	ORPHA:79443
2778	GNAS	HP:0000293	Full cheeks	HP:0040282	ORPHA:79444
2778	GNAS	HP:0000293	Full cheeks	-	OMIM:103580
2778	GNAS	HP:0001596	Alopecia	HP:0040283	ORPHA:189427
2778	GNAS	HP:0000271	Abnormality of the face	HP:0040283	ORPHA:562
2778	GNAS	HP:0030057	Autoimmune antibody positivity	-	ORPHA:94089
2778	GNAS	HP:0030057	Autoimmune antibody positivity	-	ORPHA:79443
2778	GNAS	HP:0030057	Autoimmune antibody positivity	-	ORPHA:79444
2778	GNAS	HP:0002827	Hip dislocation	3/7	OMIM:615777
2778	GNAS	HP:0002823	Abnormal femur morphology	HP:0040282	ORPHA:562
2778	GNAS	HP:0030088	Increased serum testosterone level	HP:0040282	ORPHA:562
2778	GNAS	HP:0002808	Kyphosis	-	OMIM:219080
2778	GNAS	HP:0000252	Microcephaly	-	OMIM:615777
2778	GNAS	HP:0001579	Primary hypercortisolism	HP:0040284	ORPHA:562
2778	GNAS	HP:0001579	Primary hypercortisolism	-	OMIM:219080
2778	GNAS	HP:0002893	Pituitary adenoma	-	OMIM:174800
2778	GNAS	HP:0002893	Pituitary adenoma	HP:0040284	ORPHA:189427
2778	GNAS	HP:0002858	Meningioma	HP:0040284	ORPHA:189427
2778	GNAS	HP:0002857	Genu valgum	-	OMIM:131300
2778	GNAS	HP:0001533	Slender build	-	OMIM:131300
2778	GNAS	HP:0001507	Growth abnormality	HP:0040282	ORPHA:562
2778	GNAS	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:79445
2778	GNAS	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2778	GNAS	HP:0001513	Obesity	HP:0040283	OMIM:603233
2778	GNAS	HP:0001513	Obesity	-	OMIM:612463
2778	GNAS	HP:0001513	Obesity	4/6	OMIM:612462
2778	GNAS	HP:0001513	Obesity	HP:0040282	ORPHA:79443
2778	GNAS	HP:0001513	Obesity	HP:0040282	ORPHA:79444
2778	GNAS	HP:0001513	Obesity	HP:0040283	ORPHA:79445
2778	GNAS	HP:0001513	Obesity	-	OMIM:103580
2778	GNAS	HP:0007807	Optic nerve compression	-	OMIM:131300
2778	GNAS	HP:0012368	Flat face	7/7	OMIM:615777
2778	GNAS	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2778	GNAS	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	6/6	OMIM:612462
2778	GNAS	HP:0002920	Decreased circulating ACTH concentration	HP:0040281	ORPHA:189427
2778	GNAS	HP:0002920	Decreased circulating ACTH concentration	-	OMIM:219080
2778	GNAS	HP:0002905	Hyperphosphatemia	-	OMIM:612462
2778	GNAS	HP:0002905	Hyperphosphatemia	HP:0040281	ORPHA:94089
2778	GNAS	HP:0002905	Hyperphosphatemia	HP:0040281	ORPHA:79443
2778	GNAS	HP:0002905	Hyperphosphatemia	HP:0040281	ORPHA:79444
2778	GNAS	HP:0002905	Hyperphosphatemia	-	ORPHA:79445
2778	GNAS	HP:0002905	Hyperphosphatemia	-	OMIM:603233
2778	GNAS	HP:0002905	Hyperphosphatemia	-	OMIM:103580
2778	GNAS	HP:0002901	Hypocalcemia	HP:0040281	ORPHA:94089
2778	GNAS	HP:0002901	Hypocalcemia	-	OMIM:603233
2778	GNAS	HP:0002901	Hypocalcemia	5/6	OMIM:612462
2778	GNAS	HP:0002901	Hypocalcemia	HP:0040281	ORPHA:79443
2778	GNAS	HP:0002901	Hypocalcemia	HP:0040281	ORPHA:79444
2778	GNAS	HP:0002901	Hypocalcemia	-	ORPHA:79445
2778	GNAS	HP:0000365	Hearing impairment	HP:0040283	ORPHA:562
2778	GNAS	HP:0000365	Hearing impairment	-	OMIM:174800
2778	GNAS	HP:0000365	Hearing impairment	10/67	OMIM:131300
2778	GNAS	HP:0000343	Long philtrum	1/7	OMIM:615777
2778	GNAS	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:94089
2778	GNAS	HP:0011001	Increased bone mineral density	-	OMIM:131300
2778	GNAS	HP:0011001	Increased bone mineral density	HP:0040282	ORPHA:79443
2778	GNAS	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:79444
2778	GNAS	HP:0000311	Round face	-	OMIM:219080
2778	GNAS	HP:0000311	Round face	HP:0040282	ORPHA:94089
2778	GNAS	HP:0000311	Round face	2/7	OMIM:615777
2778	GNAS	HP:0000311	Round face	-	OMIM:612463
2778	GNAS	HP:0000311	Round face	6/6	OMIM:612462
2778	GNAS	HP:0000311	Round face	HP:0040281	ORPHA:79443
2778	GNAS	HP:0000311	Round face	HP:0040282	ORPHA:79444
2778	GNAS	HP:0000311	Round face	HP:0040282	ORPHA:79445
2778	GNAS	HP:0000311	Round face	-	OMIM:103580
2778	GNAS	HP:0001657	Prolonged QT interval	HP:0040283	ORPHA:94089
2778	GNAS	HP:0001657	Prolonged QT interval	HP:0040283	ORPHA:79443
2778	GNAS	HP:0001657	Prolonged QT interval	HP:0040283	ORPHA:79444
2778	GNAS	HP:0000324	Facial asymmetry	-	OMIM:174800
2778	GNAS	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:562
2778	GNAS	HP:0002970	Genu varum	-	OMIM:615777
2778	GNAS	HP:0000303	Mandibular prognathia	-	OMIM:131300
2778	GNAS	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:79443
2778	GNAS	HP:0001733	Pancreatitis	HP:0040283	ORPHA:562
2778	GNAS	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:79443
2778	GNAS	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:79444
2778	GNAS	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:94089
2778	GNAS	HP:0005280	Depressed nasal bridge	-	OMIM:612463
2778	GNAS	HP:0005280	Depressed nasal bridge	-	OMIM:612462
2778	GNAS	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2778	GNAS	HP:0005280	Depressed nasal bridge	-	OMIM:103580
2778	GNAS	HP:0000486	Strabismus	HP:0040283	ORPHA:79443
2778	GNAS	HP:0000470	Short neck	HP:0040282	ORPHA:79443
2778	GNAS	HP:0000470	Short neck	HP:0040282	ORPHA:79444
2778	GNAS	HP:0000470	Short neck	HP:0040282	ORPHA:94089
2778	GNAS	HP:0000470	Short neck	-	OMIM:612463
2778	GNAS	HP:0000470	Short neck	-	OMIM:612462
2778	GNAS	HP:0000470	Short neck	1/7	OMIM:615777
2778	GNAS	HP:0000470	Short neck	-	OMIM:103580
2778	GNAS	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2778	GNAS	HP:0001763	Pes planus	1/7	OMIM:615777
2778	GNAS	HP:0001742	Nasal congestion	HP:0040283	ORPHA:562
2778	GNAS	HP:0006719	Benign gastrointestinal tract tumors	HP:0040283	ORPHA:562
2778	GNAS	HP:0030428	Cutaneous myxoma	HP:0040284	ORPHA:562
2778	GNAS	HP:0000518	Cataract	HP:0040282	ORPHA:79443
2778	GNAS	HP:0000518	Cataract	HP:0040282	ORPHA:79444
2778	GNAS	HP:0000518	Cataract	HP:0040282	ORPHA:94089
2778	GNAS	HP:0000518	Cataract	-	OMIM:612463
2778	GNAS	HP:0000518	Cataract	-	OMIM:612462
2778	GNAS	HP:0000518	Cataract	-	OMIM:103580
2778	GNAS	HP:0001840	Metatarsus adductus	-	OMIM:615777
2778	GNAS	HP:0000520	Proptosis	2/4	OMIM:131300
2778	GNAS	HP:0000520	Proptosis	7/7	OMIM:615777
2778	GNAS	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:94089
2778	GNAS	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:79443
2778	GNAS	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:79444
2778	GNAS	HP:0001831	Short toe	-	OMIM:103580
2778	GNAS	HP:0000585	Band keratopathy	HP:0040283	ORPHA:79443
2778	GNAS	HP:0000592	Blue sclerae	2/7	OMIM:615777
2778	GNAS	HP:0000572	Visual loss	HP:0040284	ORPHA:562
2778	GNAS	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2778	GNAS	HP:0012514	Lower limb pain	4/4	OMIM:131300
2778	GNAS	HP:0001876	Pancytopenia	HP:0040284	ORPHA:562
2779	GNAT1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
2779	GNAT1	HP:0001133	Constriction of peripheral visual field	1/1	OMIM:616389
2779	GNAT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
2779	GNAT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616389
2779	GNAT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:610444
2779	GNAT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
2779	GNAT1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
2779	GNAT1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
2779	GNAT1	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:215
2779	GNAT1	HP:0007642	Congenital stationary night blindness	1/1	OMIM:616389
2779	GNAT1	HP:0007642	Congenital stationary night blindness	-	OMIM:610444
2779	GNAT1	HP:0003621	Juvenile onset	8/19	OMIM:180100
2779	GNAT1	HP:0000639	Nystagmus	HP:0040282	ORPHA:215
2779	GNAT1	HP:0030469	Abnormal dark-adapted electroretinogram	HP:0040281	ORPHA:215
2779	GNAT1	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	HP:0040283	ORPHA:215
2779	GNAT1	HP:0000662	Nyctalopia	26/28	OMIM:180100
2779	GNAT1	HP:0000662	Nyctalopia	HP:0040281	ORPHA:215
2779	GNAT1	HP:0030639	Congenital stationary night blindness with abnormal fundus	HP:0040282	ORPHA:215
2779	GNAT1	HP:0030638	Congenital stationary night blindness with normal fundus	HP:0040282	ORPHA:215
2779	GNAT1	HP:0011463	Childhood onset	3/19	OMIM:180100
2779	GNAT1	HP:0011462	Young adult onset	8/19	OMIM:180100
2779	GNAT1	HP:0007703	Abnormality of retinal pigmentation	HP:0040284	ORPHA:215
2779	GNAT1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
2779	GNAT1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
2779	GNAT1	HP:0030329	Retinal thinning	HP:0040284	ORPHA:215
2779	GNAT1	HP:0007984	Electronegative electroretinogram	HP:0040283	ORPHA:215
2779	GNAT1	HP:0000486	Strabismus	HP:0040282	ORPHA:215
2779	GNAT1	HP:0031705	Compensatory head posture	HP:0040283	ORPHA:215
2779	GNAT1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
2779	GNAT1	HP:0000510	Rod-cone dystrophy	1/1	OMIM:616389
2779	GNAT1	HP:0000505	Visual impairment	0/4	OMIM:616389
2779	GNAT1	HP:0000575	Scotoma	5/18	OMIM:180100
2779	GNAT1	HP:0000540	Hypermetropia	HP:0040283	ORPHA:215
2779	GNAT1	HP:0000551	Color vision defect	HP:0040284	ORPHA:215
2779	GNAT1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
2779	GNAT1	HP:0000543	Optic disc pallor	1/1	OMIM:616389
2779	GNAT1	HP:0000545	Myopia	-	OMIM:180100
2779	GNAT1	HP:0000545	Myopia	HP:0040281	ORPHA:215
2780	GNAT2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
2780	GNAT2	HP:0001103	Abnormal macular morphology	HP:0040283	ORPHA:49382
2780	GNAT2	HP:0012043	Pendular nystagmus	HP:0040281	ORPHA:49382
2780	GNAT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
2780	GNAT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613856
2780	GNAT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
2780	GNAT2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
2780	GNAT2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
2780	GNAT2	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:49382
2780	GNAT2	HP:0003621	Juvenile onset	8/19	OMIM:180100
2780	GNAT2	HP:0000639	Nystagmus	-	OMIM:613856
2780	GNAT2	HP:0000613	Photophobia	-	OMIM:613856
2780	GNAT2	HP:0000613	Photophobia	HP:0040281	ORPHA:1871
2780	GNAT2	HP:0000613	Photophobia	HP:0040281	ORPHA:49382
2780	GNAT2	HP:0000603	Central scotoma	HP:0040282	ORPHA:49382
2780	GNAT2	HP:0030465	Undetectable light-adapted electroretinogram	HP:0040281	ORPHA:49382
2780	GNAT2	HP:0000662	Nyctalopia	26/28	OMIM:180100
2780	GNAT2	HP:0030620	Inner retinal layer loss on macular OCT	HP:0040281	ORPHA:49382
2780	GNAT2	HP:0030584	Color vision test abnormality	HP:0040281	ORPHA:49382
2780	GNAT2	HP:0011463	Childhood onset	3/19	OMIM:180100
2780	GNAT2	HP:0011462	Young adult onset	8/19	OMIM:180100
2780	GNAT2	HP:0011516	Achromatopsia	-	OMIM:613856
2780	GNAT2	HP:0030825	Absent foveal reflex	HP:0040282	ORPHA:49382
2780	GNAT2	HP:0007722	Retinal pigment epithelial atrophy	HP:0040284	ORPHA:49382
2780	GNAT2	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1871
2780	GNAT2	HP:0025549	Eccentric visual fixation	HP:0040283	ORPHA:49382
2780	GNAT2	HP:0007750	Hypoplasia of the fovea	HP:0040282	ORPHA:49382
2780	GNAT2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
2780	GNAT2	HP:0007695	Abnormal pupillary light reflex	HP:0040283	ORPHA:49382
2780	GNAT2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
2780	GNAT2	HP:0007843	Attenuation of retinal blood vessels	HP:0040283	ORPHA:49382
2780	GNAT2	HP:0007814	Retinal pigment epithelial mottling	HP:0040283	ORPHA:49382
2780	GNAT2	HP:0007803	Monochromacy	HP:0040281	ORPHA:49382
2780	GNAT2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
2780	GNAT2	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:1871
2780	GNAT2	HP:0000505	Visual impairment	HP:0040281	ORPHA:1871
2780	GNAT2	HP:0000505	Visual impairment	-	OMIM:613856
2780	GNAT2	HP:0000575	Scotoma	5/18	OMIM:180100
2780	GNAT2	HP:0000540	Hypermetropia	HP:0040282	ORPHA:49382
2780	GNAT2	HP:0000539	Abnormality of refraction	HP:0040281	ORPHA:49382
2780	GNAT2	HP:0000551	Color vision defect	HP:0040281	ORPHA:1871
2780	GNAT2	HP:0000551	Color vision defect	HP:0040281	ORPHA:49382
2780	GNAT2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
2780	GNAT2	HP:0000545	Myopia	-	OMIM:180100
2780	GNAT2	HP:0000545	Myopia	HP:0040282	ORPHA:49382
2782	GNB1	HP:0001188	Hand clenching	1/13	OMIM:616973
2782	GNB1	HP:0001182	Tapered finger	1/13	OMIM:616973
2782	GNB1	HP:0001181	Adducted thumb	1/13	OMIM:616973
2782	GNB1	HP:0002474	Expressive language delay	HP:0040282	ORPHA:488613
2782	GNB1	HP:0002474	Expressive language delay	4/13	OMIM:616973
2782	GNB1	HP:0002451	Limb dystonia	1/13	OMIM:616973
2782	GNB1	HP:0010851	EEG with burst suppression	1/13	OMIM:616973
2782	GNB1	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:488613
2782	GNB1	HP:0001250	Seizure	10/13	OMIM:616973
2782	GNB1	HP:0001250	Seizure	HP:0040282	ORPHA:488613
2782	GNB1	HP:0001252	Hypotonia	11/13	OMIM:616973
2782	GNB1	HP:0001249	Intellectual disability	4/4	OMIM:616973
2782	GNB1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:488613
2782	GNB1	HP:0001263	Global developmental delay	13/13	OMIM:616973
2782	GNB1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:488613
2782	GNB1	HP:0007359	Focal-onset seizure	1/13	OMIM:616973
2782	GNB1	HP:0010982	Polygenic inheritance	-	OMIM:613065
2782	GNB1	HP:0007340	Lower limb muscle weakness	1/13	OMIM:616973
2782	GNB1	HP:0002540	Inability to walk	HP:0040283	ORPHA:488613
2782	GNB1	HP:0002540	Inability to walk	3/13	OMIM:616973
2782	GNB1	HP:0002521	Hypsarrhythmia	2/13	OMIM:616973
2782	GNB1	HP:0002509	Limb hypertonia	HP:0040283	ORPHA:488613
2782	GNB1	HP:0002509	Limb hypertonia	4/13	OMIM:616973
2782	GNB1	HP:0000074	Ureteropelvic junction obstruction	1/13	OMIM:616973
2782	GNB1	HP:0001377	Limited elbow extension	1/13	OMIM:616973
2782	GNB1	HP:0001382	Joint hypermobility	1/13	OMIM:616973
2782	GNB1	HP:0012018	EEG with temporal focal spikes	1/13	OMIM:616973
2782	GNB1	HP:0001347	Hyperreflexia	1/13	OMIM:616973
2782	GNB1	HP:0001332	Dystonia	2/13	OMIM:616973
2782	GNB1	HP:0000011	Neurogenic bladder	1/13	OMIM:616973
2782	GNB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616973
2782	GNB1	HP:0001336	Myoclonus	1/13	OMIM:616973
2782	GNB1	HP:0000175	Cleft palate	HP:0040283	ORPHA:488613
2782	GNB1	HP:0000175	Cleft palate	2/13	OMIM:616973
2782	GNB1	HP:0008947	Floppy infant	HP:0040283	ORPHA:488613
2782	GNB1	HP:0008936	Axial hypotonia	2/13	OMIM:616973
2782	GNB1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:488613
2782	GNB1	HP:0000126	Hydronephrosis	2/13	OMIM:616973
2782	GNB1	HP:0001442	Typified by somatic mosaicism	-	OMIM:613065
2782	GNB1	HP:0001442	Typified by somatic mosaicism	-	OMIM:614286
2782	GNB1	HP:0002015	Dysphagia	2/13	OMIM:616973
2782	GNB1	HP:0002099	Asthma	1/13	OMIM:616973
2782	GNB1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:488613
2782	GNB1	HP:0002069	Bilateral tonic-clonic seizure	3/13	OMIM:616973
2782	GNB1	HP:0002121	Generalized non-motor (absence) seizure	2/13	OMIM:616973
2782	GNB1	HP:0002133	Status epilepticus	2/13	OMIM:616973
2782	GNB1	HP:0002126	Polymicrogyria	HP:0040284	ORPHA:488613
2782	GNB1	HP:0002126	Polymicrogyria	1/13	OMIM:616973
2782	GNB1	HP:0003593	Infantile onset	-	OMIM:616973
2782	GNB1	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:488613
2782	GNB1	HP:0100704	Cerebral visual impairment	3/13	OMIM:616973
2782	GNB1	HP:0002283	Global brain atrophy	1/13	OMIM:616973
2782	GNB1	HP:0007018	Attention deficit hyperactivity disorder	2/13	OMIM:616973
2782	GNB1	HP:0011968	Feeding difficulties	4/13	OMIM:616973
2782	GNB1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:488613
2782	GNB1	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:488613
2782	GNB1	HP:0002384	Focal impaired awareness seizure	3/13	OMIM:616973
2782	GNB1	HP:0002376	Developmental regression	HP:0040283	ORPHA:488613
2782	GNB1	HP:0002376	Developmental regression	3/13	OMIM:616973
2782	GNB1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/13	OMIM:616973
2782	GNB1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:488613
2782	GNB1	HP:0010841	Multifocal epileptiform discharges	HP:0040282	ORPHA:488613
2782	GNB1	HP:0010841	Multifocal epileptiform discharges	5/13	OMIM:616973
2782	GNB1	HP:0010819	Atonic seizure	1/13	OMIM:616973
2782	GNB1	HP:0010818	Generalized tonic seizure	2/13	OMIM:616973
2782	GNB1	HP:0002301	Hemiplegia	1/13	OMIM:616973
2782	GNB1	HP:0006813	Focal hemiclonic seizure	1/13	OMIM:616973
2782	GNB1	HP:0004283	Narrow palm	1/13	OMIM:616973
2782	GNB1	HP:0000639	Nystagmus	3/13	OMIM:616973
2782	GNB1	HP:0000639	Nystagmus	HP:0040283	ORPHA:488613
2782	GNB1	HP:0000617	Abnormality of ocular smooth pursuit	1/13	OMIM:616973
2782	GNB1	HP:0011352	Severe receptive language delay	1/13	OMIM:616973
2782	GNB1	HP:0100021	Cerebral palsy	1/13	OMIM:616973
2782	GNB1	HP:0000767	Pectus excavatum	HP:0040284	ORPHA:488613
2782	GNB1	HP:0000767	Pectus excavatum	1/13	OMIM:616973
2782	GNB1	HP:0100035	Phonic tics	1/13	OMIM:616973
2782	GNB1	HP:0100034	Motor tics	1/13	OMIM:616973
2782	GNB1	HP:0000739	Anxiety	1/13	OMIM:616973
2782	GNB1	HP:0000750	Delayed speech and language development	2/13	OMIM:616973
2782	GNB1	HP:0000718	Aggressive behavior	1/13	OMIM:616973
2782	GNB1	HP:0000717	Autism	2/13	OMIM:616973
2782	GNB1	HP:0000708	Atypical behavior	4/13	OMIM:616973
2782	GNB1	HP:0000851	Congenital hypothyroidism	1/13	OMIM:616973
2782	GNB1	HP:0010307	Stridor	1/13	OMIM:616973
2782	GNB1	HP:0000256	Macrocephaly	2/13	OMIM:616973
2782	GNB1	HP:0007772	Impaired smooth pursuit	HP:0040283	ORPHA:488613
2782	GNB1	HP:0007772	Impaired smooth pursuit	1/13	OMIM:616973
2782	GNB1	HP:0000252	Microcephaly	-	ORPHA:488613
2782	GNB1	HP:0000218	High palate	1/13	OMIM:616973
2782	GNB1	HP:0000218	High palate	HP:0040283	ORPHA:488613
2782	GNB1	HP:0002863	Myelodysplasia	-	OMIM:614286
2782	GNB1	HP:0001508	Failure to thrive	4/13	OMIM:616973
2782	GNB1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:488613
2782	GNB1	HP:0001510	Growth delay	HP:0040282	ORPHA:488613
2782	GNB1	HP:0001510	Growth delay	6/13	OMIM:616973
2782	GNB1	HP:0000396	Overfolded helix	HP:0040284	ORPHA:488613
2782	GNB1	HP:0000396	Overfolded helix	1/13	OMIM:616973
2782	GNB1	HP:0000358	Posteriorly rotated ears	1/13	OMIM:616973
2782	GNB1	HP:0032792	Tonic seizure	2/13	OMIM:616973
2782	GNB1	HP:0032794	Myoclonic seizure	1/13	OMIM:616973
2782	GNB1	HP:0000322	Short philtrum	1/13	OMIM:616973
2782	GNB1	HP:0011198	EEG with generalized epileptiform discharges	HP:0040283	ORPHA:488613
2782	GNB1	HP:0011198	EEG with generalized epileptiform discharges	3/13	OMIM:616973
2782	GNB1	HP:0000407	Sensorineural hearing impairment	1/13	OMIM:616973
2782	GNB1	HP:0000486	Strabismus	4/13	OMIM:616973
2782	GNB1	HP:0000486	Strabismus	HP:0040283	ORPHA:488613
2782	GNB1	HP:0012469	Infantile spasms	2/13	OMIM:616973
2782	GNB1	HP:0012448	Delayed myelination	HP:0040284	ORPHA:488613
2782	GNB1	HP:0012448	Delayed myelination	1/13	OMIM:616973
2782	GNB1	HP:0001763	Pes planus	1/13	OMIM:616973
2782	GNB1	HP:0006721	Acute lymphoblastic leukemia	-	OMIM:613065
2782	GNB1	HP:0011289	EEG with temporal sharp slow waves	1/13	OMIM:616973
2782	GNB1	HP:0005490	Postnatal macrocephaly	1/13	OMIM:616973
2782	GNB1	HP:0000577	Exotropia	1/13	OMIM:616973
2782	GNB1	HP:0011210	EEG with occipital slowing	1/13	OMIM:616973
2782	GNB1	HP:0000565	Esotropia	1/13	OMIM:616973
2783	GNB2	HP:0001187	Hyperextensibility of the finger joints	1/1	OMIM:619503
2783	GNB2	HP:0001182	Tapered finger	1/1	OMIM:619503
2783	GNB2	HP:0010943	Echogenic fetal bowel	1/12	OMIM:619503
2783	GNB2	HP:0001195	Single umbilical artery	1/12	OMIM:619503
2783	GNB2	HP:0009890	High anterior hairline	1/12	OMIM:619503
2783	GNB2	HP:0003763	Bruxism	1/12	OMIM:619503
2783	GNB2	HP:0003758	Reduced subcutaneous adipose tissue	1/12	OMIM:619503
2783	GNB2	HP:0001290	Generalized hypotonia	2/12	OMIM:619503
2783	GNB2	HP:0001279	Syncope	3/11	OMIM:619464
2783	GNB2	HP:0001250	Seizure	1/12	OMIM:619503
2783	GNB2	HP:0001252	Hypotonia	7/13	OMIM:619503
2783	GNB2	HP:0001249	Intellectual disability	12/23	OMIM:619503
2783	GNB2	HP:0001263	Global developmental delay	18/25	OMIM:619503
2783	GNB2	HP:0001238	Slender finger	1/1	OMIM:619503
2783	GNB2	HP:0007429	Few cafe-au-lait spots	1/12	OMIM:619503
2783	GNB2	HP:0002527	Falls	1/12	OMIM:619503
2783	GNB2	HP:0001397	Hepatic steatosis	1/12	OMIM:619503
2783	GNB2	HP:0001396	Cholestasis	1/12	OMIM:619503
2783	GNB2	HP:0025352	Typically de novo	-	OMIM:619503
2783	GNB2	HP:0001371	Flexion contracture	1/12	OMIM:619503
2783	GNB2	HP:0001386	Joint swelling	1/1	OMIM:619503
2783	GNB2	HP:0000054	Micropenis	1/12	OMIM:619503
2783	GNB2	HP:0001382	Joint hypermobility	1/12	OMIM:619503
2783	GNB2	HP:0000023	Inguinal hernia	1/12	OMIM:619503
2783	GNB2	HP:0001347	Hyperreflexia	1/12	OMIM:619503
2783	GNB2	HP:0000028	Cryptorchidism	1/12	OMIM:619503
2783	GNB2	HP:0012095	Multiple joint dislocation	1/1	OMIM:619503
2783	GNB2	HP:0000012	Urinary urgency	1/12	OMIM:619503
2783	GNB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619503
2783	GNB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619464
2783	GNB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
2783	GNB2	HP:0002643	Neonatal respiratory distress	1/12	OMIM:619503
2783	GNB2	HP:0000185	Cleft soft palate	1/12	OMIM:619503
2783	GNB2	HP:0012172	Stereotypical body rocking	1/12	OMIM:619503
2783	GNB2	HP:0000160	Narrow mouth	1/1	OMIM:619503
2783	GNB2	HP:0000154	Wide mouth	2/12	OMIM:619503
2783	GNB2	HP:0006349	Agenesis of permanent teeth	1/1	OMIM:619503
2783	GNB2	HP:0006297	Enamel hypoplasia	1/12	OMIM:619503
2783	GNB2	HP:0000122	Unilateral renal agenesis	1/12	OMIM:619503
2783	GNB2	HP:0000125	Pelvic kidney	1/12	OMIM:619503
2783	GNB2	HP:0001433	Hepatosplenomegaly	2/12	OMIM:619503
2783	GNB2	HP:0001409	Portal hypertension	1/12	OMIM:619503
2783	GNB2	HP:0002714	Downturned corners of mouth	3/12	OMIM:619503
2783	GNB2	HP:0002033	Poor suck	1/12	OMIM:619503
2783	GNB2	HP:0002003	Large forehead	1/12	OMIM:619503
2783	GNB2	HP:0002002	Deep philtrum	1/12	OMIM:619503
2783	GNB2	HP:0005990	Thyroid hypoplasia	1/12	OMIM:619503
2783	GNB2	HP:0002015	Dysphagia	2/12	OMIM:619503
2783	GNB2	HP:0002007	Frontal bossing	1/1	OMIM:619503
2783	GNB2	HP:0003307	Hyperlordosis	1/1	OMIM:619503
2783	GNB2	HP:0002099	Asthma	1/12	OMIM:619503
2783	GNB2	HP:0002040	Esophageal varix	1/12	OMIM:619503
2783	GNB2	HP:0040288	Nasogastric tube feeding	1/12	OMIM:619503
2783	GNB2	HP:0003477	Peripheral axonal neuropathy	1/12	OMIM:619503
2783	GNB2	HP:0002140	Ischemic stroke	1/12	OMIM:619503
2783	GNB2	HP:0002119	Ventriculomegaly	1/12	OMIM:619503
2783	GNB2	HP:0002136	Broad-based gait	1/12	OMIM:619503
2783	GNB2	HP:0004757	Paroxysmal atrial fibrillation	3/11	OMIM:619464
2783	GNB2	HP:0002104	Apnea	1/12	OMIM:619503
2783	GNB2	HP:0011914	Thoracic hypertrichosis	1/1	OMIM:619503
2783	GNB2	HP:0002188	Delayed CNS myelination	1/12	OMIM:619503
2783	GNB2	HP:0003593	Infantile onset	1/1	OMIM:619503
2783	GNB2	HP:0100710	Impulsivity	1/12	OMIM:619503
2783	GNB2	HP:0002212	Curly hair	2/12	OMIM:619503
2783	GNB2	HP:0002209	Sparse scalp hair	1/1	OMIM:619503
2783	GNB2	HP:0011968	Feeding difficulties	1/12	OMIM:619503
2783	GNB2	HP:0002384	Focal impaired awareness seizure	1/1	OMIM:619503
2783	GNB2	HP:0001047	Atopic dermatitis	1/12	OMIM:619503
2783	GNB2	HP:0001041	Facial erythema	1/12	OMIM:619503
2783	GNB2	HP:0001007	Hirsutism	1/12	OMIM:619503
2783	GNB2	HP:0001025	Urticaria	1/12	OMIM:619503
2783	GNB2	HP:0002353	EEG abnormality	1/1	OMIM:619503
2783	GNB2	HP:0002315	Headache	1/12	OMIM:619503
2783	GNB2	HP:0010819	Atonic seizure	1/12	OMIM:619503
2783	GNB2	HP:0025074	Abnormal QRS complex	0/11	OMIM:619464
2783	GNB2	HP:0010783	Erythema	1/12	OMIM:619503
2783	GNB2	HP:0032152	Keratosis pilaris	1/12	OMIM:619503
2783	GNB2	HP:0010747	Medial flaring of the eyebrow	2/12	OMIM:619503
2783	GNB2	HP:0004209	Clinodactyly of the 5th finger	3/12	OMIM:619503
2783	GNB2	HP:0006837	Congenital Horner syndrome	1/12	OMIM:619503
2783	GNB2	HP:0004220	Short middle phalanx of the 5th finger	1/1	OMIM:619503
2783	GNB2	HP:0000637	Long palpebral fissure	2/12	OMIM:619503
2783	GNB2	HP:0000601	Hypotelorism	1/12	OMIM:619503
2783	GNB2	HP:0000684	Delayed eruption of teeth	2/13	OMIM:619503
2783	GNB2	HP:0011342	Mild global developmental delay	2/12	OMIM:619503
2783	GNB2	HP:0009027	Foot dorsiflexor weakness	1/12	OMIM:619503
2783	GNB2	HP:0000678	Dental crowding	1/1	OMIM:619503
2783	GNB2	HP:0000664	Synophrys	1/12	OMIM:619503
2783	GNB2	HP:0004383	Hypoplastic left heart	1/12	OMIM:619503
2783	GNB2	HP:0031909	Unicornuate uterus	1/12	OMIM:619503
2783	GNB2	HP:0031935	Ascending aorta hypoplasia	1/12	OMIM:619503
2783	GNB2	HP:0012723	Sinoatrial block	1/11	OMIM:619464
2783	GNB2	HP:0000750	Delayed speech and language development	5/12	OMIM:619503
2783	GNB2	HP:0000744	Low frustration tolerance	1/12	OMIM:619503
2783	GNB2	HP:0000729	Autistic behavior	2/12	OMIM:619503
2783	GNB2	HP:0011463	Childhood onset	-	OMIM:619464
2783	GNB2	HP:0009110	Diaphragmatic eventration	1/12	OMIM:619503
2783	GNB2	HP:0003196	Short nose	1/12	OMIM:619503
2783	GNB2	HP:0000824	Decreased response to growth hormone stimulation test	1/12	OMIM:619503
2783	GNB2	HP:0011560	Mitral atresia	1/12	OMIM:619503
2783	GNB2	HP:0030891	Periventricular white matter hyperintensities	1/12	OMIM:619503
2783	GNB2	HP:0003273	Hip contracture	1/1	OMIM:619503
2783	GNB2	HP:0000973	Cutis laxa	1/1	OMIM:619503
2783	GNB2	HP:0011623	Muscular ventricular septal defect	1/12	OMIM:619503
2783	GNB2	HP:0000958	Dry skin	6/12	OMIM:619503
2783	GNB2	HP:0000954	Single transverse palmar crease	1/12	OMIM:619503
2783	GNB2	HP:0000960	Sacral dimple	1/12	OMIM:619503
2783	GNB2	HP:0008081	Pes valgus	1/12	OMIM:619503
2783	GNB2	HP:0008064	Ichthyosis	1/12	OMIM:619503
2783	GNB2	HP:0040189	Scaling skin	1/12	OMIM:619503
2783	GNB2	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
2783	GNB2	HP:0000293	Full cheeks	1/12	OMIM:619503
2783	GNB2	HP:0000256	Macrocephaly	1/1	OMIM:619503
2783	GNB2	HP:0000268	Dolichocephaly	1/1	OMIM:619503
2783	GNB2	HP:0002829	Arthralgia	1/1	OMIM:619503
2783	GNB2	HP:0002804	Arthrogryposis multiplex congenita	1/1	OMIM:619503
2783	GNB2	HP:0006380	Knee flexion contracture	1/1	OMIM:619503
2783	GNB2	HP:0000248	Brachycephaly	1/1	OMIM:619503
2783	GNB2	HP:0033992	Chronotropic incompetence	2/11	OMIM:619464
2783	GNB2	HP:0000219	Thin upper lip vermilion	2/13	OMIM:619503
2783	GNB2	HP:0000218	High palate	1/1	OMIM:619503
2783	GNB2	HP:0001562	Oligohydramnios	2/12	OMIM:619503
2783	GNB2	HP:0001558	Decreased fetal movement	2/12	OMIM:619503
2783	GNB2	HP:0001508	Failure to thrive	1/12	OMIM:619503
2783	GNB2	HP:0030043	Hip subluxation	1/12	OMIM:619503
2783	GNB2	HP:0002835	Aspiration	2/12	OMIM:619503
2783	GNB2	HP:0030051	Tip-toe gait	1/12	OMIM:619503
2783	GNB2	HP:0000389	Chronic otitis media	1/12	OMIM:619503
2783	GNB2	HP:0002944	Thoracolumbar scoliosis	1/12	OMIM:619503
2783	GNB2	HP:0002917	Hypomagnesemia	1/12	OMIM:619503
2783	GNB2	HP:0002901	Hypocalcemia	1/12	OMIM:619503
2783	GNB2	HP:0001688	Sinus bradycardia	5/11	OMIM:619464
2783	GNB2	HP:0000369	Low-set ears	2/12	OMIM:619503
2783	GNB2	HP:0000341	Narrow forehead	2/12	OMIM:619503
2783	GNB2	HP:0001669	Transposition of the great arteries	1/12	OMIM:619503
2783	GNB2	HP:0001664	Torsade de pointes	1/46	OMIM:115000
2783	GNB2	HP:0001682	Subvalvular aortic stenosis	1/12	OMIM:619503
2783	GNB2	HP:0000348	High forehead	3/12	OMIM:619503
2783	GNB2	HP:0001678	Atrioventricular block	9/11	OMIM:619464
2783	GNB2	HP:0000347	Micrognathia	4/13	OMIM:619503
2783	GNB2	HP:0012304	Hypoplastic aortic arch	1/12	OMIM:619503
2783	GNB2	HP:0001645	Sudden cardiac death	-	OMIM:115000
2783	GNB2	HP:0001645	Sudden cardiac death	0/11	OMIM:619464
2783	GNB2	HP:0001663	Ventricular fibrillation	-	OMIM:115000
2783	GNB2	HP:0002987	Elbow flexion contracture	1/1	OMIM:619503
2783	GNB2	HP:0001629	Ventricular septal defect	2/12	OMIM:619503
2783	GNB2	HP:0000303	Mandibular prognathia	2/2	OMIM:619503
2783	GNB2	HP:0005301	Persistent left superior vena cava	1/12	OMIM:619503
2783	GNB2	HP:0006610	Wide intermamillary distance	1/12	OMIM:619503
2783	GNB2	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
2783	GNB2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
2783	GNB2	HP:0006659	Internally rotated shoulders	1/1	OMIM:619503
2783	GNB2	HP:0000403	Recurrent otitis media	1/12	OMIM:619503
2783	GNB2	HP:0000400	Macrotia	2/12	OMIM:619503
2783	GNB2	HP:0001719	Double outlet right ventricle	1/12	OMIM:619503
2783	GNB2	HP:0005272	Prominent nasolabial fold	1/12	OMIM:619503
2783	GNB2	HP:0005280	Depressed nasal bridge	1/12	OMIM:619503
2783	GNB2	HP:0031547	Abnormal QT interval	0/11	OMIM:619464
2783	GNB2	HP:0000490	Deeply set eye	2/12	OMIM:619503
2783	GNB2	HP:0001791	Fetal ascites	1/12	OMIM:619503
2783	GNB2	HP:0012450	Chronic constipation	2/12	OMIM:619503
2783	GNB2	HP:0031593	Abnormal PR interval	0/11	OMIM:619464
2783	GNB2	HP:0000448	Prominent nose	1/12	OMIM:619503
2783	GNB2	HP:0012506	Small pituitary gland	1/12	OMIM:619503
2783	GNB2	HP:0000527	Long eyelashes	1/12	OMIM:619503
2783	GNB2	HP:0000506	Telecanthus	1/12	OMIM:619503
2783	GNB2	HP:0000582	Upslanted palpebral fissure	1/12	OMIM:619503
2783	GNB2	HP:0000577	Exotropia	1/1	OMIM:619503
2783	GNB2	HP:0000592	Blue sclerae	1/1	OMIM:619503
2783	GNB2	HP:0011228	Horizontal eyebrow	1/12	OMIM:619503
2783	GNB2	HP:0000574	Thick eyebrow	2/13	OMIM:619503
2783	GNB2	HP:0000540	Hypermetropia	1/12	OMIM:619503
2783	GNB2	HP:0001878	Hemolytic anemia	1/12	OMIM:619503
2784	GNB3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
2784	GNB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:617024
2784	GNB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
2784	GNB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
2784	GNB3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
2784	GNB3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
2784	GNB3	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:215
2784	GNB3	HP:0001426	Non-Mendelian inheritance	-	OMIM:145500
2784	GNB3	HP:0003581	Adult onset	2/4	OMIM:617024
2784	GNB3	HP:0004972	Elevated mean arterial pressure	-	OMIM:145500
2784	GNB3	HP:0003621	Juvenile onset	8/19	OMIM:180100
2784	GNB3	HP:0000639	Nystagmus	0/4	OMIM:617024
2784	GNB3	HP:0000639	Nystagmus	HP:0040282	ORPHA:215
2784	GNB3	HP:0000613	Photophobia	2/4	OMIM:617024
2784	GNB3	HP:0030469	Abnormal dark-adapted electroretinogram	HP:0040281	ORPHA:215
2784	GNB3	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	HP:0040283	ORPHA:215
2784	GNB3	HP:0000662	Nyctalopia	3/4	OMIM:617024
2784	GNB3	HP:0000662	Nyctalopia	26/28	OMIM:180100
2784	GNB3	HP:0000662	Nyctalopia	HP:0040281	ORPHA:215
2784	GNB3	HP:0030639	Congenital stationary night blindness with abnormal fundus	HP:0040282	ORPHA:215
2784	GNB3	HP:0030638	Congenital stationary night blindness with normal fundus	HP:0040282	ORPHA:215
2784	GNB3	HP:0011463	Childhood onset	3/19	OMIM:180100
2784	GNB3	HP:0011463	Childhood onset	2/4	OMIM:617024
2784	GNB3	HP:0011462	Young adult onset	8/19	OMIM:180100
2784	GNB3	HP:0004421	Elevated systolic blood pressure	-	OMIM:145500
2784	GNB3	HP:0007703	Abnormality of retinal pigmentation	HP:0040284	ORPHA:215
2784	GNB3	HP:0025573	Mild myopia	1/4	OMIM:617024
2784	GNB3	HP:0005117	Elevated diastolic blood pressure	-	OMIM:145500
2784	GNB3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
2784	GNB3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
2784	GNB3	HP:0030329	Retinal thinning	HP:0040284	ORPHA:215
2784	GNB3	HP:0007984	Electronegative electroretinogram	HP:0040283	ORPHA:215
2784	GNB3	HP:0000486	Strabismus	HP:0040282	ORPHA:215
2784	GNB3	HP:0031705	Compensatory head posture	HP:0040283	ORPHA:215
2784	GNB3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
2784	GNB3	HP:0000575	Scotoma	5/18	OMIM:180100
2784	GNB3	HP:0000540	Hypermetropia	HP:0040283	ORPHA:215
2784	GNB3	HP:0000540	Hypermetropia	2/4	OMIM:617024
2784	GNB3	HP:0000551	Color vision defect	HP:0040284	ORPHA:215
2784	GNB3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
2784	GNB3	HP:0000545	Myopia	-	OMIM:180100
2784	GNB3	HP:0000545	Myopia	HP:0040281	ORPHA:215
2796	GNRH1	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:432
2796	GNRH1	HP:0002555	Absent pubic hair	-	OMIM:614841
2796	GNRH1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:432
2796	GNRH1	HP:0008734	Decreased testicular size	-	OMIM:614841
2796	GNRH1	HP:0008734	Decreased testicular size	1/1	OMIM:146110
2796	GNRH1	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:432
2796	GNRH1	HP:0008724	Hypoplasia of the ovary	-	OMIM:614841
2796	GNRH1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:432
2796	GNRH1	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:614841
2796	GNRH1	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
2796	GNRH1	HP:0000054	Micropenis	-	OMIM:614841
2796	GNRH1	HP:0000054	Micropenis	1/1	OMIM:146110
2796	GNRH1	HP:0000054	Micropenis	HP:0040281	ORPHA:432
2796	GNRH1	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:432
2796	GNRH1	HP:0000028	Cryptorchidism	-	OMIM:146110
2796	GNRH1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:432
2796	GNRH1	HP:0000028	Cryptorchidism	-	OMIM:614841
2796	GNRH1	HP:0000027	Azoospermia	HP:0040281	ORPHA:432
2796	GNRH1	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:432
2796	GNRH1	HP:0000013	Hypoplasia of the uterus	HP:0040282	ORPHA:432
2796	GNRH1	HP:0000013	Hypoplasia of the uterus	-	OMIM:614841
2796	GNRH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
2796	GNRH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614841
2796	GNRH1	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:432
2796	GNRH1	HP:0000175	Cleft palate	HP:0040283	ORPHA:432
2796	GNRH1	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:432
2796	GNRH1	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:432
2796	GNRH1	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:432
2796	GNRH1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:432
2796	GNRH1	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:432
2796	GNRH1	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:432
2796	GNRH1	HP:0008214	Decreased serum estradiol	-	OMIM:614841
2796	GNRH1	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
2796	GNRH1	HP:0002231	Sparse body hair	HP:0040281	ORPHA:432
2796	GNRH1	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
2796	GNRH1	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:432
2796	GNRH1	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:432
2796	GNRH1	HP:0003621	Juvenile onset	2/2	OMIM:146110
2796	GNRH1	HP:0000802	Impotence	HP:0040281	ORPHA:432
2796	GNRH1	HP:0000771	Gynecomastia	HP:0040282	ORPHA:432
2796	GNRH1	HP:0000771	Gynecomastia	0/1	OMIM:146110
2796	GNRH1	HP:0000739	Anxiety	HP:0040282	ORPHA:432
2796	GNRH1	HP:0000716	Depression	HP:0040282	ORPHA:432
2796	GNRH1	HP:0000789	Infertility	HP:0040283	OMIM:146110
2796	GNRH1	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:432
2796	GNRH1	HP:0000786	Primary amenorrhea	-	OMIM:614841
2796	GNRH1	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
2796	GNRH1	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
2796	GNRH1	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:432
2796	GNRH1	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:432
2796	GNRH1	HP:0000823	Delayed puberty	HP:0040282	ORPHA:432
2796	GNRH1	HP:0000823	Delayed puberty	-	OMIM:614841
2796	GNRH1	HP:0000939	Osteoporosis	HP:0040282	ORPHA:432
2796	GNRH1	HP:0000938	Osteopenia	HP:0040282	ORPHA:432
2796	GNRH1	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:432
2796	GNRH1	HP:0040171	Decreased serum testosterone concentration	-	OMIM:614841
2796	GNRH1	HP:0030019	Increased female libido	HP:0040281	ORPHA:432
2796	GNRH1	HP:0012385	Camptodactyly	HP:0040283	ORPHA:432
2796	GNRH1	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:432
2796	GNRH1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:432
2796	GNRH1	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:432
2796	GNRH1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:432
2796	GNRH1	HP:0000458	Anosmia	HP:0040282	OMIM:614841
2796	GNRH1	HP:0030339	Decreased circulating gonadotropin concentration	-	OMIM:614841
2798	GNRHR	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:432
2798	GNRHR	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:432
2798	GNRHR	HP:0008734	Decreased testicular size	1/1	OMIM:146110
2798	GNRHR	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:432
2798	GNRHR	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:432
2798	GNRHR	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
2798	GNRHR	HP:0000054	Micropenis	1/1	OMIM:146110
2798	GNRHR	HP:0000054	Micropenis	HP:0040281	ORPHA:432
2798	GNRHR	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:432
2798	GNRHR	HP:0000028	Cryptorchidism	-	OMIM:146110
2798	GNRHR	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:432
2798	GNRHR	HP:0000027	Azoospermia	HP:0040281	ORPHA:432
2798	GNRHR	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:432
2798	GNRHR	HP:0000013	Hypoplasia of the uterus	HP:0040282	ORPHA:432
2798	GNRHR	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
2798	GNRHR	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:432
2798	GNRHR	HP:0000175	Cleft palate	HP:0040283	ORPHA:432
2798	GNRHR	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:432
2798	GNRHR	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:432
2798	GNRHR	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:432
2798	GNRHR	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:432
2798	GNRHR	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:432
2798	GNRHR	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:432
2798	GNRHR	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
2798	GNRHR	HP:0002231	Sparse body hair	HP:0040281	ORPHA:432
2798	GNRHR	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
2798	GNRHR	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:432
2798	GNRHR	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:432
2798	GNRHR	HP:0003621	Juvenile onset	2/2	OMIM:146110
2798	GNRHR	HP:0000802	Impotence	HP:0040281	ORPHA:432
2798	GNRHR	HP:0000771	Gynecomastia	HP:0040282	ORPHA:432
2798	GNRHR	HP:0000771	Gynecomastia	0/1	OMIM:146110
2798	GNRHR	HP:0000739	Anxiety	HP:0040282	ORPHA:432
2798	GNRHR	HP:0000716	Depression	HP:0040282	ORPHA:432
2798	GNRHR	HP:0000789	Infertility	HP:0040283	OMIM:146110
2798	GNRHR	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:432
2798	GNRHR	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
2798	GNRHR	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
2798	GNRHR	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:432
2798	GNRHR	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:432
2798	GNRHR	HP:0000823	Delayed puberty	HP:0040282	ORPHA:432
2798	GNRHR	HP:0000939	Osteoporosis	HP:0040282	ORPHA:432
2798	GNRHR	HP:0000938	Osteopenia	HP:0040282	ORPHA:432
2798	GNRHR	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:432
2798	GNRHR	HP:0030019	Increased female libido	HP:0040281	ORPHA:432
2798	GNRHR	HP:0012385	Camptodactyly	HP:0040283	ORPHA:432
2798	GNRHR	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:432
2798	GNRHR	HP:0000316	Hypertelorism	HP:0040283	ORPHA:432
2798	GNRHR	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:432
2798	GNRHR	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:432
2799	GNS	HP:0001169	Broad palm	1/3	OMIM:252940
2799	GNS	HP:0009937	Facial hirsutism	1/1	OMIM:252940
2799	GNS	HP:0010865	Oppositional defiant disorder	1/3	OMIM:252940
2799	GNS	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2799	GNS	HP:0001293	Cranial nerve compression	-	OMIM:131300
2799	GNS	HP:0001272	Cerebellar atrophy	1/3	OMIM:252940
2799	GNS	HP:0001288	Gait disturbance	1/3	OMIM:252940
2799	GNS	HP:0001250	Seizure	-	OMIM:252940
2799	GNS	HP:0001252	Hypotonia	2/7	OMIM:615777
2799	GNS	HP:0001249	Intellectual disability	-	OMIM:252940
2799	GNS	HP:0001249	Intellectual disability	5/7	OMIM:615777
2799	GNS	HP:0001260	Dysarthria	1/3	OMIM:252940
2799	GNS	HP:0001263	Global developmental delay	3/3	OMIM:252940
2799	GNS	HP:0001263	Global developmental delay	-	OMIM:615777
2799	GNS	HP:0002515	Waddling gait	54/102	OMIM:131300
2799	GNS	HP:0001385	Hip dysplasia	1/3	OMIM:252940
2799	GNS	HP:0001387	Joint stiffness	-	OMIM:252940
2799	GNS	HP:0001382	Joint hypermobility	-	OMIM:615777
2799	GNS	HP:0000023	Inguinal hernia	1/3	OMIM:252940
2799	GNS	HP:0001348	Brisk reflexes	1/3	OMIM:252940
2799	GNS	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2799	GNS	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2799	GNS	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2799	GNS	HP:0002656	Epiphyseal dysplasia	1/3	OMIM:252940
2799	GNS	HP:0001324	Muscle weakness	40/96	OMIM:131300
2799	GNS	HP:0001344	Absent speech	-	OMIM:252940
2799	GNS	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2799	GNS	HP:0000007	Autosomal recessive inheritance	-	OMIM:252940
2799	GNS	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2799	GNS	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2799	GNS	HP:0002650	Scoliosis	12/14	OMIM:131300
2799	GNS	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2799	GNS	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2799	GNS	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2799	GNS	HP:0000187	Broad alveolar ridges	1/3	OMIM:252940
2799	GNS	HP:0000179	Thick lower lip vermilion	-	OMIM:252940
2799	GNS	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2799	GNS	HP:0000158	Macroglossia	1/1	OMIM:252940
2799	GNS	HP:0000175	Cleft palate	2/7	OMIM:615777
2799	GNS	HP:0000154	Wide mouth	1/3	OMIM:252940
2799	GNS	HP:0002788	Recurrent upper respiratory tract infections	1/3	OMIM:252940
2799	GNS	HP:0002014	Diarrhea	-	OMIM:252940
2799	GNS	HP:0002015	Dysphagia	2/3	OMIM:252940
2799	GNS	HP:0002007	Frontal bossing	1/1	OMIM:252940
2799	GNS	HP:0003309	Ovoid thoracolumbar vertebrae	-	OMIM:252940
2799	GNS	HP:0003388	Easy fatigability	36/76	OMIM:131300
2799	GNS	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2799	GNS	HP:0002159	Heparan sulfate excretion in urine	4/4	OMIM:252940
2799	GNS	HP:0003593	Infantile onset	1/3	OMIM:252940
2799	GNS	HP:0002240	Hepatomegaly	1/3	OMIM:252940
2799	GNS	HP:0002208	Coarse hair	-	OMIM:252940
2799	GNS	HP:0003510	Severe short stature	7/7	OMIM:615777
2799	GNS	HP:0002360	Sleep abnormality	3/3	OMIM:252940
2799	GNS	HP:0003676	Progressive	-	OMIM:252940
2799	GNS	HP:0001007	Hirsutism	-	OMIM:252940
2799	GNS	HP:0003653	Cellular metachromasia	-	OMIM:252940
2799	GNS	HP:0002315	Headache	-	OMIM:131300
2799	GNS	HP:0004976	Knee dislocation	6/7	OMIM:615777
2799	GNS	HP:0009803	Short phalanx of finger	-	OMIM:615777
2799	GNS	HP:0033454	Tube feeding	1/3	OMIM:252940
2799	GNS	HP:0008479	Hypoplastic vertebral bodies	1/3	OMIM:252940
2799	GNS	HP:0010769	Pilonidal sinus	1/3	OMIM:252940
2799	GNS	HP:0009763	Limb pain	63/92	OMIM:131300
2799	GNS	HP:0002307	Drooling	2/3	OMIM:252940
2799	GNS	HP:0003621	Juvenile onset	-	OMIM:131300
2799	GNS	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2799	GNS	HP:0031849	Sleep-wake inversion	2/3	OMIM:252940
2799	GNS	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2799	GNS	HP:6001056	Out-toeing	-	OMIM:131300
2799	GNS	HP:0000651	Diplopia	-	OMIM:131300
2799	GNS	HP:0001956	Truncal obesity	2/7	OMIM:615777
2799	GNS	HP:0001903	Anemia	HP:0040283	OMIM:131300
2799	GNS	HP:0010049	Short metacarpal	-	OMIM:615777
2799	GNS	HP:0000678	Dental crowding	-	OMIM:615777
2799	GNS	HP:0000662	Nyctalopia	1/3	OMIM:252940
2799	GNS	HP:0000670	Carious teeth	-	OMIM:131300
2799	GNS	HP:0011304	Broad thumb	2/7	OMIM:615777
2799	GNS	HP:0000668	Hypodontia	-	OMIM:615777
2799	GNS	HP:0000664	Synophrys	-	OMIM:615777
2799	GNS	HP:0000664	Synophrys	1/3	OMIM:252940
2799	GNS	HP:0004322	Short stature	1/3	OMIM:252940
2799	GNS	HP:0004396	Poor appetite	-	OMIM:131300
2799	GNS	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2799	GNS	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2799	GNS	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2799	GNS	HP:0003026	Short long bone	7/7	OMIM:615777
2799	GNS	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2799	GNS	HP:0000752	Hyperactivity	2/3	OMIM:252940
2799	GNS	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2799	GNS	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2799	GNS	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2799	GNS	HP:0000750	Delayed speech and language development	3/3	OMIM:252940
2799	GNS	HP:0000750	Delayed speech and language development	-	OMIM:615777
2799	GNS	HP:0000718	Aggressive behavior	1/3	OMIM:252940
2799	GNS	HP:0000711	Restlessness	1/3	OMIM:252940
2799	GNS	HP:0000713	Agitation	1/3	OMIM:252940
2799	GNS	HP:0011463	Childhood onset	3/4	OMIM:252940
2799	GNS	HP:0011461	Fetal onset	7/7	OMIM:615777
2799	GNS	HP:0000774	Narrow chest	2/7	OMIM:615777
2799	GNS	HP:0000926	Platyspondyly	1/7	OMIM:615777
2799	GNS	HP:0003180	Flat acetabular roof	-	OMIM:615777
2799	GNS	HP:0000900	Thickened ribs	-	OMIM:252940
2799	GNS	HP:0004482	Relative macrocephaly	-	OMIM:615777
2799	GNS	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2799	GNS	HP:0000823	Delayed puberty	-	OMIM:131300
2799	GNS	HP:0000894	Short clavicles	-	OMIM:615777
2799	GNS	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2799	GNS	HP:4000198	Reduced acetylglucosamine-6-sulfatase activity in cultured fibroblasts	-	OMIM:252940
2799	GNS	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2799	GNS	HP:0000943	Dysostosis multiplex	-	OMIM:252940
2799	GNS	HP:0000286	Epicanthus	1/7	OMIM:615777
2799	GNS	HP:0000280	Coarse facial features	2/7	OMIM:615777
2799	GNS	HP:0000280	Coarse facial features	3/4	OMIM:252940
2799	GNS	HP:0000256	Macrocephaly	1/1	OMIM:252940
2799	GNS	HP:0002827	Hip dislocation	3/7	OMIM:615777
2799	GNS	HP:0000252	Microcephaly	-	OMIM:615777
2799	GNS	HP:0002857	Genu valgum	-	OMIM:131300
2799	GNS	HP:0031354	Sleep onset insomnia	1/3	OMIM:252940
2799	GNS	HP:0001533	Slender build	-	OMIM:131300
2799	GNS	HP:0001507	Growth abnormality	-	OMIM:252940
2799	GNS	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2799	GNS	HP:0007807	Optic nerve compression	-	OMIM:131300
2799	GNS	HP:0012368	Flat face	7/7	OMIM:615777
2799	GNS	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2799	GNS	HP:0002943	Thoracic scoliosis	1/3	OMIM:252940
2799	GNS	HP:0000365	Hearing impairment	1/3	OMIM:252940
2799	GNS	HP:0000365	Hearing impairment	10/67	OMIM:131300
2799	GNS	HP:0000369	Low-set ears	1/3	OMIM:252940
2799	GNS	HP:0000343	Long philtrum	1/7	OMIM:615777
2799	GNS	HP:0001670	Asymmetric septal hypertrophy	-	OMIM:252940
2799	GNS	HP:0011001	Increased bone mineral density	-	OMIM:131300
2799	GNS	HP:0000316	Hypertelorism	1/1	OMIM:252940
2799	GNS	HP:0000311	Round face	2/7	OMIM:615777
2799	GNS	HP:0002987	Elbow flexion contracture	2/3	OMIM:252940
2799	GNS	HP:0001653	Mitral regurgitation	1/3	OMIM:252940
2799	GNS	HP:0002970	Genu varum	-	OMIM:615777
2799	GNS	HP:0000303	Mandibular prognathia	-	OMIM:131300
2799	GNS	HP:0000403	Recurrent otitis media	1/3	OMIM:252940
2799	GNS	HP:0005280	Depressed nasal bridge	3/4	OMIM:252940
2799	GNS	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2799	GNS	HP:0012471	Thick vermilion border	1/3	OMIM:252940
2799	GNS	HP:0000490	Deeply set eye	1/3	OMIM:252940
2799	GNS	HP:0000463	Anteverted nares	1/3	OMIM:252940
2799	GNS	HP:0000470	Short neck	2/3	OMIM:252940
2799	GNS	HP:0000470	Short neck	1/7	OMIM:615777
2799	GNS	HP:0001771	Achilles tendon contracture	2/3	OMIM:252940
2799	GNS	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2799	GNS	HP:0001763	Pes planus	1/7	OMIM:615777
2799	GNS	HP:0001744	Splenomegaly	1/3	OMIM:252940
2799	GNS	HP:0001761	Pes cavus	2/3	OMIM:252940
2799	GNS	HP:0001840	Metatarsus adductus	-	OMIM:615777
2799	GNS	HP:0000520	Proptosis	2/4	OMIM:131300
2799	GNS	HP:0000520	Proptosis	7/7	OMIM:615777
2799	GNS	HP:0000505	Visual impairment	1/3	OMIM:252940
2799	GNS	HP:0000592	Blue sclerae	2/7	OMIM:615777
2799	GNS	HP:0011220	Prominent forehead	2/3	OMIM:252940
2799	GNS	HP:0000574	Thick eyebrow	2/3	OMIM:252940
2799	GNS	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2799	GNS	HP:0012514	Lower limb pain	4/4	OMIM:131300
2801	GOLGA2	HP:0001252	Hypotonia	3/3	OMIM:620240
2801	GOLGA2	HP:0001263	Global developmental delay	3/3	OMIM:620240
2801	GOLGA2	HP:0007359	Focal-onset seizure	1/1	OMIM:620240
2801	GOLGA2	HP:0002521	Hypsarrhythmia	1/1	OMIM:620240
2801	GOLGA2	HP:0001371	Flexion contracture	1/1	OMIM:620240
2801	GOLGA2	HP:0033725	Thin corpus callosum	3/3	OMIM:620240
2801	GOLGA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620240
2801	GOLGA2	HP:0002120	Cerebral cortical atrophy	1/1	OMIM:620240
2801	GOLGA2	HP:0002188	Delayed CNS myelination	2/2	OMIM:620240
2801	GOLGA2	HP:0002169	Clonus	1/1	OMIM:620240
2801	GOLGA2	HP:0003593	Infantile onset	2/2	OMIM:620240
2801	GOLGA2	HP:0010804	Tented upper lip vermilion	1/1	OMIM:620240
2801	GOLGA2	HP:0000750	Delayed speech and language development	1/1	OMIM:620240
2801	GOLGA2	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:620240
2801	GOLGA2	HP:0100295	Muscle fiber atrophy	1/1	OMIM:620240
2801	GOLGA2	HP:0000253	Progressive microcephaly	1/1	OMIM:620240
2801	GOLGA2	HP:0000252	Microcephaly	2/2	OMIM:620240
2801	GOLGA2	HP:0000248	Brachycephaly	1/1	OMIM:620240
2801	GOLGA2	HP:0001508	Failure to thrive	1/1	OMIM:620240
2801	GOLGA2	HP:0000341	Narrow forehead	1/1	OMIM:620240
2801	GOLGA2	HP:0000347	Micrognathia	1/1	OMIM:620240
2801	GOLGA2	HP:0000319	Smooth philtrum	1/1	OMIM:620240
2801	GOLGA2	HP:0005280	Depressed nasal bridge	1/1	OMIM:620240
2801	GOLGA2	HP:0000486	Strabismus	1/1	OMIM:620240
2801	GOLGA2	HP:0012469	Infantile spasms	1/1	OMIM:620240
2801	GOLGA2	HP:0012444	Brain atrophy	1/1	OMIM:620240
2801	GOLGA2	HP:0011220	Prominent forehead	1/1	OMIM:620240
2806	GOT2	HP:0010864	Intellectual disability, severe	4/4	OMIM:618721
2806	GOT2	HP:0001250	Seizure	4/4	OMIM:618721
2806	GOT2	HP:0002540	Inability to walk	3/4	OMIM:618721
2806	GOT2	HP:0002510	Spastic tetraplegia	2/4	OMIM:618721
2806	GOT2	HP:0008872	Feeding difficulties in infancy	4/4	OMIM:618721
2806	GOT2	HP:0001344	Absent speech	3/4	OMIM:618721
2806	GOT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618721
2806	GOT2	HP:0001320	Cerebellar vermis hypoplasia	3/4	OMIM:618721
2806	GOT2	HP:0001319	Neonatal hypotonia	4/4	OMIM:618721
2806	GOT2	HP:0002719	Recurrent infections	4/4	OMIM:618721
2806	GOT2	HP:0002079	Hypoplasia of the corpus callosum	3/4	OMIM:618721
2806	GOT2	HP:0002059	Cerebral atrophy	3/4	OMIM:618721
2806	GOT2	HP:0002151	Increased circulating lactate concentration	4/4	OMIM:618721
2806	GOT2	HP:0002313	Spastic paraparesis	2/4	OMIM:618721
2806	GOT2	HP:0001987	Hyperammonemia	4/4	OMIM:618721
2806	GOT2	HP:0004325	Decreased body weight	3/4	OMIM:618721
2806	GOT2	HP:0004322	Short stature	3/4	OMIM:618721
2806	GOT2	HP:0000750	Delayed speech and language development	4/4	OMIM:618721
2806	GOT2	HP:0000253	Progressive microcephaly	4/4	OMIM:618721
2811	GP1BA	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040284	ORPHA:853
2811	GP1BA	HP:0001250	Seizure	HP:0040284	ORPHA:274
2811	GP1BA	HP:0001263	Global developmental delay	HP:0040284	ORPHA:853
2811	GP1BA	HP:0007420	Spontaneous hematomas	HP:0040282	ORPHA:274
2811	GP1BA	HP:0007420	Spontaneous hematomas	HP:0040282	ORPHA:853
2811	GP1BA	HP:0008738	Partially duplicated kidney	HP:0040284	ORPHA:274
2811	GP1BA	HP:0000007	Autosomal recessive inheritance	-	OMIM:231200
2811	GP1BA	HP:0000007	Autosomal recessive inheritance	-	OMIM:258660
2811	GP1BA	HP:0000006	Autosomal dominant inheritance	-	OMIM:153670
2811	GP1BA	HP:0000006	Autosomal dominant inheritance	-	OMIM:177820
2811	GP1BA	HP:0031128	Impaired collagen-related peptide-induced platelet aggregation	0/3	OMIM:153670
2811	GP1BA	HP:0012143	Abnormal megakaryocyte morphology	HP:0040283	ORPHA:274
2811	GP1BA	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	-	OMIM:258660
2811	GP1BA	HP:0006298	Prolonged bleeding after dental extraction	1/1	OMIM:153670
2811	GP1BA	HP:0006298	Prolonged bleeding after dental extraction	HP:0040282	ORPHA:274
2811	GP1BA	HP:0006298	Prolonged bleeding after dental extraction	-	OMIM:231200
2811	GP1BA	HP:0000132	Menorrhagia	2/2	OMIM:153670
2811	GP1BA	HP:0000132	Menorrhagia	HP:0040282	ORPHA:274
2811	GP1BA	HP:0000132	Menorrhagia	-	OMIM:231200
2811	GP1BA	HP:0002099	Asthma	HP:0040284	ORPHA:274
2811	GP1BA	HP:0002076	Migraine	HP:0040284	ORPHA:274
2811	GP1BA	HP:0002138	Subarachnoid hemorrhage	HP:0040284	ORPHA:853
2811	GP1BA	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:853
2811	GP1BA	HP:0011877	Increased mean platelet volume	4/4	OMIM:153670
2811	GP1BA	HP:0011879	Decreased platelet glycoprotein Ib-IX-V	HP:0040281	ORPHA:274
2811	GP1BA	HP:0011871	Impaired ristocetin-induced platelet aggregation	11/11	OMIM:231200
2811	GP1BA	HP:0011871	Impaired ristocetin-induced platelet aggregation	3/3	OMIM:153670
2811	GP1BA	HP:0011871	Impaired ristocetin-induced platelet aggregation	HP:0040280	ORPHA:274
2811	GP1BA	HP:0003577	Congenital onset	1/1	OMIM:231200
2811	GP1BA	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:274
2811	GP1BA	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:853
2811	GP1BA	HP:0002239	Gastrointestinal hemorrhage	-	OMIM:231200
2811	GP1BA	HP:0002249	Melena	HP:0040283	ORPHA:853
2811	GP1BA	HP:0002248	Hematemesis	HP:0040283	ORPHA:274
2811	GP1BA	HP:0004854	Intermittent thrombocytopenia	-	OMIM:177820
2811	GP1BA	HP:0004866	Impaired ADP-induced platelet aggregation	0/3	OMIM:153670
2811	GP1BA	HP:0004846	Prolonged bleeding after surgery	HP:0040283	ORPHA:274
2811	GP1BA	HP:0004846	Prolonged bleeding after surgery	-	OMIM:231200
2811	GP1BA	HP:0004809	Neonatal alloimmune thrombocytopenia	HP:0040280	ORPHA:853
2811	GP1BA	HP:0000618	Blindness	HP:0040284	ORPHA:853
2811	GP1BA	HP:0001902	Giant platelets	HP:0040281	ORPHA:274
2811	GP1BA	HP:0001902	Giant platelets	-	OMIM:231200
2811	GP1BA	HP:0003010	Prolonged bleeding time	-	OMIM:177820
2811	GP1BA	HP:0003010	Prolonged bleeding time	-	OMIM:231200
2811	GP1BA	HP:0100021	Cerebral palsy	HP:0040284	ORPHA:853
2811	GP1BA	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:853
2811	GP1BA	HP:0000790	Hematuria	HP:0040283	ORPHA:853
2811	GP1BA	HP:0004446	Stomatocytosis	-	OMIM:153670
2811	GP1BA	HP:0004406	Spontaneous, recurrent epistaxis	HP:0040282	ORPHA:274
2811	GP1BA	HP:0000979	Purpura	HP:0040282	ORPHA:853
2811	GP1BA	HP:0000979	Purpura	-	OMIM:231200
2811	GP1BA	HP:0000978	Bruising susceptibility	-	OMIM:153670
2811	GP1BA	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:274
2811	GP1BA	HP:0000967	Petechiae	-	OMIM:153670
2811	GP1BA	HP:0000967	Petechiae	HP:0040282	ORPHA:274
2811	GP1BA	HP:0000967	Petechiae	HP:0040282	ORPHA:853
2811	GP1BA	HP:0040185	Macrothrombocytopenia	HP:0040281	ORPHA:274
2811	GP1BA	HP:0040185	Macrothrombocytopenia	1/1	OMIM:231200
2811	GP1BA	HP:0000225	Gingival bleeding	-	OMIM:153670
2811	GP1BA	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:274
2811	GP1BA	HP:0000225	Gingival bleeding	-	OMIM:231200
2811	GP1BA	HP:0031364	Ecchymosis	-	OMIM:153670
2811	GP1BA	HP:0031364	Ecchymosis	HP:0040283	ORPHA:853
2811	GP1BA	HP:0001744	Splenomegaly	-	OMIM:153670
2811	GP1BA	HP:0000421	Epistaxis	2/3	OMIM:153670
2811	GP1BA	HP:0000421	Epistaxis	-	OMIM:231200
2811	GP1BA	HP:0012587	Macroscopic hematuria	HP:0040283	ORPHA:274
2811	GP1BA	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:274
2811	GP1BA	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:853
2811	GP1BA	HP:0001892	Abnormal bleeding	-	OMIM:231200
2811	GP1BA	HP:0012541	Cephalohematoma	HP:0040282	ORPHA:853
2811	GP1BA	HP:0001878	Hemolytic anemia	-	OMIM:153670
2811	GP1BA	HP:0001873	Thrombocytopenia	4/4	OMIM:153670
2811	GP1BA	HP:0001873	Thrombocytopenia	1/1	OMIM:231200
2812	GP1BB	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:567
2812	GP1BB	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:567
2812	GP1BB	HP:0002435	Meningocele	HP:0040282	ORPHA:567
2812	GP1BB	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:567
2812	GP1BB	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040284	ORPHA:853
2812	GP1BB	HP:0002414	Spina bifida	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001281	Tetany	HP:0040282	ORPHA:567
2812	GP1BB	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:567
2812	GP1BB	HP:0001250	Seizure	HP:0040284	ORPHA:274
2812	GP1BB	HP:0001250	Seizure	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001252	Hypotonia	HP:0040281	ORPHA:567
2812	GP1BB	HP:0001249	Intellectual disability	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001263	Global developmental delay	HP:0040282	ORPHA:567
2812	GP1BB	HP:0001263	Global developmental delay	HP:0040284	ORPHA:853
2812	GP1BB	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:567
2812	GP1BB	HP:0007420	Spontaneous hematomas	HP:0040282	ORPHA:274
2812	GP1BB	HP:0007420	Spontaneous hematomas	HP:0040282	ORPHA:853
2812	GP1BB	HP:0008738	Partially duplicated kidney	HP:0040284	ORPHA:274
2812	GP1BB	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:567
2812	GP1BB	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001369	Arthritis	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000047	Hypospadias	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:567
2812	GP1BB	HP:0002691	Platybasia	HP:0040281	ORPHA:567
2812	GP1BB	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:567
2812	GP1BB	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001328	Specific learning disability	HP:0040282	ORPHA:567
2812	GP1BB	HP:0000007	Autosomal recessive inheritance	-	OMIM:231200
2812	GP1BB	HP:0002650	Scoliosis	HP:0040282	ORPHA:567
2812	GP1BB	HP:0002619	Varicose veins	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001300	Parkinsonism	HP:0040283	ORPHA:567
2812	GP1BB	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:567
2812	GP1BB	HP:0000160	Narrow mouth	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000175	Cleft palate	HP:0040281	ORPHA:567
2812	GP1BB	HP:0012143	Abnormal megakaryocyte morphology	HP:0040283	ORPHA:274
2812	GP1BB	HP:0006298	Prolonged bleeding after dental extraction	HP:0040282	ORPHA:274
2812	GP1BB	HP:0006298	Prolonged bleeding after dental extraction	-	OMIM:231200
2812	GP1BB	HP:0000113	Polycystic kidney dysplasia	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000132	Menorrhagia	HP:0040282	ORPHA:274
2812	GP1BB	HP:0000132	Menorrhagia	-	OMIM:231200
2812	GP1BB	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:567
2812	GP1BB	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:567
2812	GP1BB	HP:0002023	Anal atresia	HP:0040283	ORPHA:567
2812	GP1BB	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:567
2812	GP1BB	HP:0002019	Constipation	HP:0040282	ORPHA:567
2812	GP1BB	HP:0003326	Myalgia	HP:0040282	ORPHA:567
2812	GP1BB	HP:0002099	Asthma	HP:0040284	ORPHA:274
2812	GP1BB	HP:0002099	Asthma	HP:0040283	ORPHA:567
2812	GP1BB	HP:0002076	Migraine	HP:0040284	ORPHA:274
2812	GP1BB	HP:0002139	Arrhinencephaly	HP:0040283	ORPHA:567
2812	GP1BB	HP:0002138	Subarachnoid hemorrhage	HP:0040284	ORPHA:853
2812	GP1BB	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:567
2812	GP1BB	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:853
2812	GP1BB	HP:0011879	Decreased platelet glycoprotein Ib-IX-V	HP:0040281	ORPHA:274
2812	GP1BB	HP:0011871	Impaired ristocetin-induced platelet aggregation	11/11	OMIM:231200
2812	GP1BB	HP:0011871	Impaired ristocetin-induced platelet aggregation	HP:0040280	ORPHA:274
2812	GP1BB	HP:0011840	Abnormality of T cell physiology	HP:0040282	ORPHA:567
2812	GP1BB	HP:0003577	Congenital onset	1/1	OMIM:231200
2812	GP1BB	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:274
2812	GP1BB	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:567
2812	GP1BB	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:853
2812	GP1BB	HP:0002239	Gastrointestinal hemorrhage	-	OMIM:231200
2812	GP1BB	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:567
2812	GP1BB	HP:0002249	Melena	HP:0040283	ORPHA:853
2812	GP1BB	HP:0002248	Hematemesis	HP:0040283	ORPHA:274
2812	GP1BB	HP:0100765	Abnormality of the tonsils	HP:0040282	ORPHA:567
2812	GP1BB	HP:0100735	Hypertensive crisis	HP:0040283	ORPHA:567
2812	GP1BB	HP:0100750	Atelectasis	HP:0040283	ORPHA:567
2812	GP1BB	HP:0100753	Schizophrenia	HP:0040283	ORPHA:567
2812	GP1BB	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:567
2812	GP1BB	HP:0004846	Prolonged bleeding after surgery	HP:0040283	ORPHA:274
2812	GP1BB	HP:0004846	Prolonged bleeding after surgery	-	OMIM:231200
2812	GP1BB	HP:0004809	Neonatal alloimmune thrombocytopenia	HP:0040280	ORPHA:853
2812	GP1BB	HP:0001051	Seborrheic dermatitis	HP:0040282	ORPHA:567
2812	GP1BB	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:567
2812	GP1BB	HP:0002381	Aphasia	HP:0040281	ORPHA:567
2812	GP1BB	HP:0001061	Acne	HP:0040282	ORPHA:567
2812	GP1BB	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:567
2812	GP1BB	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000648	Optic atrophy	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000618	Blindness	HP:0040284	ORPHA:853
2812	GP1BB	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:567
2812	GP1BB	HP:0000600	Abnormality of the pharynx	HP:0040281	ORPHA:567
2812	GP1BB	HP:0001902	Giant platelets	HP:0040281	ORPHA:274
2812	GP1BB	HP:0001902	Giant platelets	-	OMIM:231200
2812	GP1BB	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:567
2812	GP1BB	HP:0011324	Multiple suture craniosynostosis	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000670	Carious teeth	HP:0040282	ORPHA:567
2812	GP1BB	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:567
2812	GP1BB	HP:0004322	Short stature	HP:0040282	ORPHA:567
2812	GP1BB	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:567
2812	GP1BB	HP:0003010	Prolonged bleeding time	-	OMIM:231200
2812	GP1BB	HP:0100021	Cerebral palsy	HP:0040284	ORPHA:853
2812	GP1BB	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:567
2812	GP1BB	HP:0000765	Abnormal thorax morphology	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000739	Anxiety	HP:0040282	ORPHA:567
2812	GP1BB	HP:0000716	Depression	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000717	Autism	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000708	Atypical behavior	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:853
2812	GP1BB	HP:0011496	Corneal neovascularization	HP:0040282	ORPHA:567
2812	GP1BB	HP:0000778	Hypoplasia of the thymus	HP:0040281	ORPHA:567
2812	GP1BB	HP:0000790	Hematuria	HP:0040283	ORPHA:853
2812	GP1BB	HP:0004406	Spontaneous, recurrent epistaxis	HP:0040282	ORPHA:274
2812	GP1BB	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:567
2812	GP1BB	HP:0000836	Hyperthyroidism	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000829	Hypoparathyroidism	HP:0040282	ORPHA:567
2812	GP1BB	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:567
2812	GP1BB	HP:0011662	Tricuspid atresia	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000979	Purpura	HP:0040282	ORPHA:853
2812	GP1BB	HP:0000979	Purpura	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000979	Purpura	-	OMIM:231200
2812	GP1BB	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:274
2812	GP1BB	HP:0000967	Petechiae	HP:0040282	ORPHA:274
2812	GP1BB	HP:0000967	Petechiae	HP:0040282	ORPHA:853
2812	GP1BB	HP:0040185	Macrothrombocytopenia	HP:0040281	ORPHA:274
2812	GP1BB	HP:0040185	Macrothrombocytopenia	1/1	OMIM:231200
2812	GP1BB	HP:0000286	Epicanthus	HP:0040281	ORPHA:567
2812	GP1BB	HP:0000262	Turricephaly	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000276	Long face	HP:0040282	ORPHA:567
2812	GP1BB	HP:0000272	Malar flattening	HP:0040282	ORPHA:567
2812	GP1BB	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000252	Microcephaly	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:274
2812	GP1BB	HP:0000225	Gingival bleeding	-	OMIM:231200
2812	GP1BB	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:567
2812	GP1BB	HP:0031364	Ecchymosis	HP:0040283	ORPHA:853
2812	GP1BB	HP:0001508	Failure to thrive	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001513	Obesity	HP:0040283	ORPHA:567
2812	GP1BB	HP:0006510	Chronic pulmonary obstruction	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000385	Small earlobe	HP:0040282	ORPHA:567
2812	GP1BB	HP:0000396	Overfolded helix	HP:0040282	ORPHA:567
2812	GP1BB	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:567
2812	GP1BB	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:567
2812	GP1BB	HP:0002901	Hypocalcemia	HP:0040282	ORPHA:567
2812	GP1BB	HP:0000365	Hearing impairment	HP:0040282	ORPHA:567
2812	GP1BB	HP:0000369	Low-set ears	HP:0040281	ORPHA:567
2812	GP1BB	HP:0000343	Long philtrum	HP:0040282	ORPHA:567
2812	GP1BB	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000347	Micrognathia	HP:0040283	ORPHA:567
2812	GP1BB	HP:0012303	Abnormal aortic arch morphology	HP:0040281	ORPHA:567
2812	GP1BB	HP:0000316	Hypertelorism	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001660	Truncus arteriosus	HP:0040281	ORPHA:567
2812	GP1BB	HP:0000322	Short philtrum	HP:0040283	ORPHA:567
2812	GP1BB	HP:0002960	Autoimmunity	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001629	Ventricular septal defect	HP:0040281	ORPHA:567
2812	GP1BB	HP:0001641	Abnormal pulmonary valve morphology	HP:0040281	ORPHA:567
2812	GP1BB	HP:0001636	Tetralogy of Fallot	HP:0040281	ORPHA:567
2812	GP1BB	HP:0001631	Atrial septal defect	HP:0040281	ORPHA:567
2812	GP1BB	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:567
2812	GP1BB	HP:0000486	Strabismus	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000492	Abnormal eyelid morphology	HP:0040282	ORPHA:567
2812	GP1BB	HP:0000470	Short neck	HP:0040282	ORPHA:567
2812	GP1BB	HP:0000453	Choanal atresia	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000414	Bulbous nose	HP:0040281	ORPHA:567
2812	GP1BB	HP:0001744	Splenomegaly	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:567
2812	GP1BB	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:567
2812	GP1BB	HP:0000421	Epistaxis	-	OMIM:231200
2812	GP1BB	HP:0000518	Cataract	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:567
2812	GP1BB	HP:0000506	Telecanthus	HP:0040281	ORPHA:567
2812	GP1BB	HP:0000508	Ptosis	HP:0040282	ORPHA:567
2812	GP1BB	HP:0000501	Glaucoma	HP:0040283	ORPHA:567
2812	GP1BB	HP:0012587	Macroscopic hematuria	HP:0040283	ORPHA:274
2812	GP1BB	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:567
2812	GP1BB	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:274
2812	GP1BB	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:853
2812	GP1BB	HP:0001892	Abnormal bleeding	-	OMIM:231200
2812	GP1BB	HP:0012541	Cephalohematoma	HP:0040282	ORPHA:853
2812	GP1BB	HP:0000568	Microphthalmia	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001872	Abnormality of thrombocytes	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:567
2812	GP1BB	HP:0001873	Thrombocytopenia	1/1	OMIM:231200
2815	GP9	HP:0001250	Seizure	HP:0040284	ORPHA:274
2815	GP9	HP:0007420	Spontaneous hematomas	HP:0040282	ORPHA:274
2815	GP9	HP:0008738	Partially duplicated kidney	HP:0040284	ORPHA:274
2815	GP9	HP:0000007	Autosomal recessive inheritance	-	OMIM:231200
2815	GP9	HP:0012143	Abnormal megakaryocyte morphology	HP:0040283	ORPHA:274
2815	GP9	HP:0006298	Prolonged bleeding after dental extraction	HP:0040282	ORPHA:274
2815	GP9	HP:0006298	Prolonged bleeding after dental extraction	-	OMIM:231200
2815	GP9	HP:0000132	Menorrhagia	HP:0040282	ORPHA:274
2815	GP9	HP:0000132	Menorrhagia	-	OMIM:231200
2815	GP9	HP:0002099	Asthma	HP:0040284	ORPHA:274
2815	GP9	HP:0002076	Migraine	HP:0040284	ORPHA:274
2815	GP9	HP:0011879	Decreased platelet glycoprotein Ib-IX-V	HP:0040281	ORPHA:274
2815	GP9	HP:0011871	Impaired ristocetin-induced platelet aggregation	11/11	OMIM:231200
2815	GP9	HP:0011871	Impaired ristocetin-induced platelet aggregation	HP:0040280	ORPHA:274
2815	GP9	HP:0003577	Congenital onset	1/1	OMIM:231200
2815	GP9	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:274
2815	GP9	HP:0002239	Gastrointestinal hemorrhage	-	OMIM:231200
2815	GP9	HP:0002248	Hematemesis	HP:0040283	ORPHA:274
2815	GP9	HP:0004846	Prolonged bleeding after surgery	HP:0040283	ORPHA:274
2815	GP9	HP:0004846	Prolonged bleeding after surgery	-	OMIM:231200
2815	GP9	HP:0001902	Giant platelets	HP:0040281	ORPHA:274
2815	GP9	HP:0001902	Giant platelets	-	OMIM:231200
2815	GP9	HP:0003010	Prolonged bleeding time	-	OMIM:231200
2815	GP9	HP:0004406	Spontaneous, recurrent epistaxis	HP:0040282	ORPHA:274
2815	GP9	HP:0000979	Purpura	-	OMIM:231200
2815	GP9	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:274
2815	GP9	HP:0000967	Petechiae	HP:0040282	ORPHA:274
2815	GP9	HP:0040185	Macrothrombocytopenia	HP:0040281	ORPHA:274
2815	GP9	HP:0040185	Macrothrombocytopenia	1/1	OMIM:231200
2815	GP9	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:274
2815	GP9	HP:0000225	Gingival bleeding	-	OMIM:231200
2815	GP9	HP:0000421	Epistaxis	-	OMIM:231200
2815	GP9	HP:0012587	Macroscopic hematuria	HP:0040283	ORPHA:274
2815	GP9	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:274
2815	GP9	HP:0001892	Abnormal bleeding	-	OMIM:231200
2815	GP9	HP:0001873	Thrombocytopenia	1/1	OMIM:231200
2819	GPD1	HP:0001397	Hepatic steatosis	2/2	OMIM:614480
2819	GPD1	HP:0001395	Hepatic fibrosis	2/2	OMIM:614480
2819	GPD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614480
2819	GPD1	HP:0002013	Vomiting	3/10	OMIM:614480
2819	GPD1	HP:0030948	Elevated gamma-glutamyltransferase level	10/10	OMIM:614480
2819	GPD1	HP:0002155	Hypertriglyceridemia	10/10	OMIM:614480
2819	GPD1	HP:0003593	Infantile onset	10/10	OMIM:614480
2819	GPD1	HP:0002240	Hepatomegaly	8/8	OMIM:614480
2819	GPD1	HP:0004322	Short stature	4/10	OMIM:614480
2819	GPD1	HP:0001508	Failure to thrive	1/10	OMIM:614480
2819	GPD1	HP:0002910	Elevated circulating hepatic transaminase concentration	10/10	OMIM:614480
2819	GPD1	HP:0001744	Splenomegaly	3/7	OMIM:614480
2820	GPD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
2820	GPD2	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
2820	GPD2	HP:0003584	Late onset	-	OMIM:125853
2820	GPD2	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
2820	GPD2	HP:0000855	Insulin resistance	-	OMIM:125853
2821	GPI	HP:0010871	Sensory ataxia	-	OMIM:613470
2821	GPI	HP:0001251	Ataxia	-	OMIM:613470
2821	GPI	HP:0001249	Intellectual disability	-	OMIM:613470
2821	GPI	HP:0001249	Intellectual disability	HP:0040283	ORPHA:712
2821	GPI	HP:0001324	Muscle weakness	-	OMIM:613470
2821	GPI	HP:0000007	Autosomal recessive inheritance	-	OMIM:613470
2821	GPI	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:712
2821	GPI	HP:0008282	Unconjugated hyperbilirubinemia	HP:0040282	ORPHA:712
2821	GPI	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:712
2821	GPI	HP:0003568	Decreased glucosephosphate isomerase level	-	OMIM:613470
2821	GPI	HP:0003568	Decreased glucosephosphate isomerase level	HP:0040282	ORPHA:712
2821	GPI	HP:0011993	Impaired neutrophil bactericidal activity	-	OMIM:613470
2821	GPI	HP:0011981	Pigment gallstones	-	OMIM:613470
2821	GPI	HP:0011981	Pigment gallstones	HP:0040283	ORPHA:712
2821	GPI	HP:0001081	Cholelithiasis	-	OMIM:613470
2821	GPI	HP:0001082	Cholecystitis	-	OMIM:613470
2821	GPI	HP:0001082	Cholecystitis	HP:0040283	ORPHA:712
2821	GPI	HP:0005525	Spontaneous hemolytic crises	-	OMIM:613470
2821	GPI	HP:0001923	Reticulocytosis	HP:0040282	ORPHA:712
2821	GPI	HP:0001930	Nonspherocytic hemolytic anemia	-	OMIM:613470
2821	GPI	HP:0001930	Nonspherocytic hemolytic anemia	HP:0040282	ORPHA:712
2821	GPI	HP:0004447	Poikilocytosis	HP:0040283	ORPHA:712
2821	GPI	HP:0000952	Jaundice	HP:0040282	ORPHA:712
2821	GPI	HP:0000952	Jaundice	-	OMIM:613470
2821	GPI	HP:0001789	Hydrops fetalis	HP:0040283	ORPHA:712
2821	GPI	HP:0001744	Splenomegaly	HP:0040282	ORPHA:712
2821	GPI	HP:0001744	Splenomegaly	-	OMIM:613470
2859	GPR35	HP:0003700	Generalized amyotrophy	HP:0040283	ORPHA:171
2859	GPR35	HP:0001298	Encephalopathy	HP:0040284	ORPHA:171
2859	GPR35	HP:0100869	Palmar telangiectasia	HP:0040282	ORPHA:171
2859	GPR35	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:171
2859	GPR35	HP:0001396	Cholestasis	HP:0040281	ORPHA:171
2859	GPR35	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:171
2859	GPR35	HP:0001394	Cirrhosis	HP:0040282	ORPHA:171
2859	GPR35	HP:0002608	Celiac disease	HP:0040283	ORPHA:171
2859	GPR35	HP:0012115	Hepatitis	HP:0040283	ORPHA:171
2859	GPR35	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:171
2859	GPR35	HP:0001409	Portal hypertension	HP:0040282	ORPHA:171
2859	GPR35	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:171
2859	GPR35	HP:0002027	Abdominal pain	HP:0040283	ORPHA:171
2859	GPR35	HP:0100512	Decreased circulating vitamin D concentration	HP:0040283	ORPHA:171
2859	GPR35	HP:0100513	Decreased circulating vitamin E concentration	HP:0040283	ORPHA:171
2859	GPR35	HP:0100575	Neoplasm of the gallbladder	HP:0040284	ORPHA:171
2859	GPR35	HP:0040275	Adenocarcinoma of the large intestine	HP:0040283	ORPHA:171
2859	GPR35	HP:0008151	Prolonged prothrombin time	HP:0040283	ORPHA:171
2859	GPR35	HP:0003459	Polyclonal elevation of IgM	HP:0040283	ORPHA:171
2859	GPR35	HP:0011892	Decreased circulating vitamin K concentration	HP:0040283	ORPHA:171
2859	GPR35	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:171
2859	GPR35	HP:0002202	Pleural effusion	HP:0040283	ORPHA:171
2859	GPR35	HP:0100727	Histiocytosis	-	ORPHA:171
2859	GPR35	HP:0010638	Elevated alkaline phosphatase of hepatic origin	HP:0040282	ORPHA:171
2859	GPR35	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:171
2859	GPR35	HP:0100646	Thyroiditis	HP:0040283	ORPHA:171
2859	GPR35	HP:0100626	Chronic hepatic failure	HP:0040283	ORPHA:171
2859	GPR35	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:171
2859	GPR35	HP:0004905	Reduced circulating vitamin A concentration	HP:0040283	ORPHA:171
2859	GPR35	HP:0001945	Fever	HP:0040282	ORPHA:171
2859	GPR35	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:171
2859	GPR35	HP:0012700	Abnormal large intestine physiology	HP:0040282	ORPHA:171
2859	GPR35	HP:0000716	Depression	HP:0040283	ORPHA:171
2859	GPR35	HP:0100279	Ulcerative colitis	HP:0040282	ORPHA:171
2859	GPR35	HP:0000989	Pruritus	HP:0040283	ORPHA:171
2859	GPR35	HP:0000952	Jaundice	HP:0040283	ORPHA:171
2859	GPR35	HP:0000939	Osteoporosis	HP:0040283	ORPHA:171
2859	GPR35	HP:0000938	Osteopenia	HP:0040283	ORPHA:171
2859	GPR35	HP:0001541	Ascites	HP:0040282	ORPHA:171
2859	GPR35	HP:0012378	Fatigue	HP:0040283	ORPHA:171
2859	GPR35	HP:0011034	Amyloidosis	-	ORPHA:171
2859	GPR35	HP:0006554	Acute hepatic failure	HP:0040284	ORPHA:171
2859	GPR35	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:171
2859	GPR35	HP:0030153	Cholangiocarcinoma	HP:0040283	ORPHA:171
2859	GPR35	HP:0002960	Autoimmunity	HP:0040281	ORPHA:171
2859	GPR35	HP:0030168	Dilated superficial abdominal veins	HP:0040282	ORPHA:171
2859	GPR35	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:171
2859	GPR35	HP:0001733	Pancreatitis	HP:0040283	ORPHA:171
2859	GPR35	HP:0012440	Abnormal biliary tract morphology	HP:0040281	ORPHA:171
2859	GPR35	HP:0001744	Splenomegaly	HP:0040282	ORPHA:171
2859	GPR35	HP:0005429	Recurrent systemic pyogenic infections	-	ORPHA:171
2859	GPR35	HP:0001824	Weight loss	HP:0040282	ORPHA:171
2859	GPR35	HP:0000554	Uveitis	HP:0040284	ORPHA:171
2859	GPR35	HP:0012522	Spider hemangioma	HP:0040282	ORPHA:171
2859	GPR35	HP:0001879	Abnormal eosinophil morphology	-	ORPHA:171
2876	GPX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614164
2876	GPX1	HP:0004863	Compensated hemolytic anemia	-	OMIM:614164
2876	GPX1	HP:0020082	Heinz bodies	-	OMIM:614164
2876	GPX1	HP:0003265	Neonatal hyperbilirubinemia	-	OMIM:614164
2879	GPX4	HP:0001156	Brachydactyly	-	OMIM:250220
2879	GPX4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2879	GPX4	HP:0001293	Cranial nerve compression	-	OMIM:131300
2879	GPX4	HP:0001290	Generalized hypotonia	-	OMIM:250220
2879	GPX4	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:93317
2879	GPX4	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93317
2879	GPX4	HP:0001252	Hypotonia	-	OMIM:250220
2879	GPX4	HP:0001252	Hypotonia	2/7	OMIM:615777
2879	GPX4	HP:0001249	Intellectual disability	5/7	OMIM:615777
2879	GPX4	HP:0001263	Global developmental delay	-	OMIM:615777
2879	GPX4	HP:0006059	Cone-shaped metacarpal epiphyses	-	OMIM:250220
2879	GPX4	HP:0002515	Waddling gait	54/102	OMIM:131300
2879	GPX4	HP:0001382	Joint hypermobility	-	OMIM:615777
2879	GPX4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2879	GPX4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2879	GPX4	HP:0008798	Widened greater sciatic notch	-	OMIM:250220
2879	GPX4	HP:0008786	Iliac crest serration	HP:0040281	ORPHA:93317
2879	GPX4	HP:0008786	Iliac crest serration	-	OMIM:250220
2879	GPX4	HP:0002663	Delayed epiphyseal ossification	-	OMIM:250220
2879	GPX4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2879	GPX4	HP:0001324	Muscle weakness	40/96	OMIM:131300
2879	GPX4	HP:0002657	Spondylometaphyseal dysplasia	HP:0040281	ORPHA:93317
2879	GPX4	HP:0002657	Spondylometaphyseal dysplasia	-	OMIM:250220
2879	GPX4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2879	GPX4	HP:0000007	Autosomal recessive inheritance	-	OMIM:250220
2879	GPX4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2879	GPX4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2879	GPX4	HP:0001302	Pachygyria	HP:0040283	ORPHA:93317
2879	GPX4	HP:0002650	Scoliosis	12/14	OMIM:131300
2879	GPX4	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:93317
2879	GPX4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2879	GPX4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2879	GPX4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2879	GPX4	HP:0008905	Rhizomelia	-	OMIM:250220
2879	GPX4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2879	GPX4	HP:0000175	Cleft palate	2/7	OMIM:615777
2879	GPX4	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:93317
2879	GPX4	HP:0031233	Horizontal inferior border of scapula	-	OMIM:250220
2879	GPX4	HP:0004688	Irregular tarsal bones	-	OMIM:250220
2879	GPX4	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:93317
2879	GPX4	HP:0003375	Narrow greater sciatic notch	-	OMIM:250220
2879	GPX4	HP:0003388	Easy fatigability	36/76	OMIM:131300
2879	GPX4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2879	GPX4	HP:0002132	Porencephalic cyst	-	OMIM:250220
2879	GPX4	HP:0003498	Disproportionate short stature	HP:0040281	ORPHA:93317
2879	GPX4	HP:0003498	Disproportionate short stature	-	OMIM:250220
2879	GPX4	HP:0010579	Cone-shaped epiphysis	HP:0040283	ORPHA:93317
2879	GPX4	HP:0003510	Severe short stature	7/7	OMIM:615777
2879	GPX4	HP:0002315	Headache	-	OMIM:131300
2879	GPX4	HP:0004976	Knee dislocation	6/7	OMIM:615777
2879	GPX4	HP:0004991	Rhizomelic arm shortening	HP:0040281	ORPHA:93317
2879	GPX4	HP:0009803	Short phalanx of finger	-	OMIM:615777
2879	GPX4	HP:0009803	Short phalanx of finger	-	OMIM:250220
2879	GPX4	HP:0009763	Limb pain	63/92	OMIM:131300
2879	GPX4	HP:0003621	Juvenile onset	-	OMIM:131300
2879	GPX4	HP:0007187	Focal lissencephaly	-	OMIM:250220
2879	GPX4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2879	GPX4	HP:0004279	Short palm	HP:0040281	ORPHA:93317
2879	GPX4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2879	GPX4	HP:6001056	Out-toeing	-	OMIM:131300
2879	GPX4	HP:0000651	Diplopia	-	OMIM:131300
2879	GPX4	HP:0001956	Truncal obesity	2/7	OMIM:615777
2879	GPX4	HP:0001903	Anemia	HP:0040283	OMIM:131300
2879	GPX4	HP:0010049	Short metacarpal	HP:0040281	ORPHA:93317
2879	GPX4	HP:0010049	Short metacarpal	-	OMIM:615777
2879	GPX4	HP:0010049	Short metacarpal	-	OMIM:250220
2879	GPX4	HP:0000678	Dental crowding	-	OMIM:615777
2879	GPX4	HP:0000670	Carious teeth	-	OMIM:131300
2879	GPX4	HP:0011304	Broad thumb	2/7	OMIM:615777
2879	GPX4	HP:0000668	Hypodontia	-	OMIM:615777
2879	GPX4	HP:0000664	Synophrys	-	OMIM:615777
2879	GPX4	HP:0005616	Accelerated skeletal maturation	HP:0040283	ORPHA:93317
2879	GPX4	HP:0003085	Long fibula	HP:0040281	ORPHA:93317
2879	GPX4	HP:0003085	Long fibula	-	OMIM:250220
2879	GPX4	HP:0004396	Poor appetite	-	OMIM:131300
2879	GPX4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2879	GPX4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2879	GPX4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2879	GPX4	HP:0003026	Short long bone	7/7	OMIM:615777
2879	GPX4	HP:0003026	Short long bone	-	OMIM:250220
2879	GPX4	HP:0003025	Metaphyseal irregularity	-	OMIM:250220
2879	GPX4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2879	GPX4	HP:0003021	Metaphyseal cupping	-	OMIM:250220
2879	GPX4	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:93317
2879	GPX4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2879	GPX4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2879	GPX4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2879	GPX4	HP:0000750	Delayed speech and language development	-	OMIM:615777
2879	GPX4	HP:0011461	Fetal onset	7/7	OMIM:615777
2879	GPX4	HP:0000782	Abnormal scapula morphology	HP:0040281	ORPHA:93317
2879	GPX4	HP:0000774	Narrow chest	-	OMIM:250220
2879	GPX4	HP:0000774	Narrow chest	HP:0040282	ORPHA:93317
2879	GPX4	HP:0000774	Narrow chest	2/7	OMIM:615777
2879	GPX4	HP:0000773	Short ribs	-	OMIM:250220
2879	GPX4	HP:0000926	Platyspondyly	-	OMIM:250220
2879	GPX4	HP:0000926	Platyspondyly	HP:0040281	ORPHA:93317
2879	GPX4	HP:0000926	Platyspondyly	1/7	OMIM:615777
2879	GPX4	HP:0003180	Flat acetabular roof	-	OMIM:615777
2879	GPX4	HP:0003180	Flat acetabular roof	-	OMIM:250220
2879	GPX4	HP:0004482	Relative macrocephaly	-	OMIM:615777
2879	GPX4	HP:0004491	Large posterior fontanelle	-	OMIM:250220
2879	GPX4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2879	GPX4	HP:0000878	11 pairs of ribs	-	OMIM:250220
2879	GPX4	HP:0000887	Cupped ribs	-	OMIM:250220
2879	GPX4	HP:0012819	Myocarditis	HP:0040283	ORPHA:93317
2879	GPX4	HP:0012819	Myocarditis	-	OMIM:250220
2879	GPX4	HP:0000823	Delayed puberty	-	OMIM:131300
2879	GPX4	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	-	OMIM:250220
2879	GPX4	HP:0000894	Short clavicles	-	OMIM:615777
2879	GPX4	HP:0005871	Metaphyseal chondrodysplasia	HP:0040281	ORPHA:93317
2879	GPX4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2879	GPX4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2879	GPX4	HP:0009381	Short finger	-	OMIM:250220
2879	GPX4	HP:0011675	Arrhythmia	-	OMIM:250220
2879	GPX4	HP:0011675	Arrhythmia	HP:0040281	ORPHA:93317
2879	GPX4	HP:0000286	Epicanthus	1/7	OMIM:615777
2879	GPX4	HP:0000280	Coarse facial features	2/7	OMIM:615777
2879	GPX4	HP:0000262	Turricephaly	HP:0040282	ORPHA:93317
2879	GPX4	HP:0000262	Turricephaly	-	OMIM:250220
2879	GPX4	HP:0002827	Hip dislocation	3/7	OMIM:615777
2879	GPX4	HP:0000252	Microcephaly	-	OMIM:615777
2879	GPX4	HP:0001582	Redundant skin	-	OMIM:250220
2879	GPX4	HP:0002857	Genu valgum	-	OMIM:131300
2879	GPX4	HP:0002869	Flared iliac wing	-	OMIM:250220
2879	GPX4	HP:0001533	Slender build	-	OMIM:131300
2879	GPX4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2879	GPX4	HP:0007807	Optic nerve compression	-	OMIM:131300
2879	GPX4	HP:0012368	Flat face	7/7	OMIM:615777
2879	GPX4	HP:0006543	Cardiorespiratory arrest	HP:0040281	ORPHA:93317
2879	GPX4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2879	GPX4	HP:0000365	Hearing impairment	10/67	OMIM:131300
2879	GPX4	HP:0000358	Posteriorly rotated ears	-	OMIM:250220
2879	GPX4	HP:0000343	Long philtrum	1/7	OMIM:615777
2879	GPX4	HP:0011001	Increased bone mineral density	-	OMIM:131300
2879	GPX4	HP:0001678	Atrioventricular block	HP:0040281	ORPHA:93317
2879	GPX4	HP:0000311	Round face	2/7	OMIM:615777
2879	GPX4	HP:0002970	Genu varum	-	OMIM:615777
2879	GPX4	HP:0001631	Atrial septal defect	-	OMIM:250220
2879	GPX4	HP:0000303	Mandibular prognathia	-	OMIM:131300
2879	GPX4	HP:0005280	Depressed nasal bridge	-	OMIM:250220
2879	GPX4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2879	GPX4	HP:0000470	Short neck	-	OMIM:250220
2879	GPX4	HP:0000470	Short neck	1/7	OMIM:615777
2879	GPX4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2879	GPX4	HP:0001763	Pes planus	1/7	OMIM:615777
2879	GPX4	HP:0001762	Talipes equinovarus	-	OMIM:250220
2879	GPX4	HP:0001840	Metatarsus adductus	-	OMIM:615777
2879	GPX4	HP:0000520	Proptosis	2/4	OMIM:131300
2879	GPX4	HP:0000520	Proptosis	7/7	OMIM:615777
2879	GPX4	HP:0001831	Short toe	-	OMIM:250220
2879	GPX4	HP:0000592	Blue sclerae	2/7	OMIM:615777
2879	GPX4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2879	GPX4	HP:0012514	Lower limb pain	4/4	OMIM:131300
2887	GRB10	HP:0001156	Brachydactyly	HP:0040282	ORPHA:96182
2887	GRB10	HP:0001159	Syndactyly	HP:0040282	ORPHA:96182
2887	GRB10	HP:0001270	Motor delay	HP:0040282	ORPHA:96182
2887	GRB10	HP:0001263	Global developmental delay	HP:0040282	ORPHA:96182
2887	GRB10	HP:0000085	Horseshoe kidney	HP:0040284	ORPHA:96182
2887	GRB10	HP:0000047	Hypospadias	HP:0040283	ORPHA:96182
2887	GRB10	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:96182
2887	GRB10	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:96182
2887	GRB10	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:96182
2887	GRB10	HP:0008846	Severe intrauterine growth retardation	HP:0040283	ORPHA:96182
2887	GRB10	HP:0001328	Specific learning disability	HP:0040283	ORPHA:96182
2887	GRB10	HP:0002650	Scoliosis	HP:0040283	ORPHA:96182
2887	GRB10	HP:0003944	Narrow joint spaces of the elbow	HP:0040283	ORPHA:96182
2887	GRB10	HP:0000160	Narrow mouth	HP:0040283	ORPHA:96182
2887	GRB10	HP:0001476	Delayed closure of the anterior fontanelle	HP:0040283	ORPHA:96182
2887	GRB10	HP:0002705	High, narrow palate	HP:0040283	ORPHA:96182
2887	GRB10	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:96182
2887	GRB10	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:96182
2887	GRB10	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:96182
2887	GRB10	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:96182
2887	GRB10	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:96182
2887	GRB10	HP:0002019	Constipation	HP:0040283	ORPHA:96182
2887	GRB10	HP:0002013	Vomiting	HP:0040283	ORPHA:96182
2887	GRB10	HP:0002007	Frontal bossing	HP:0040283	ORPHA:96182
2887	GRB10	HP:0100555	Asymmetric growth	HP:0040282	ORPHA:96182
2887	GRB10	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:96182
2887	GRB10	HP:0100633	Esophagitis	HP:0040283	ORPHA:96182
2887	GRB10	HP:0010782	Shoulder dimple	HP:0040283	ORPHA:96182
2887	GRB10	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:96182
2887	GRB10	HP:0000678	Dental crowding	HP:0040283	ORPHA:96182
2887	GRB10	HP:0000691	Microdontia	HP:0040283	ORPHA:96182
2887	GRB10	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:96182
2887	GRB10	HP:0004396	Poor appetite	HP:0040283	ORPHA:96182
2887	GRB10	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:96182
2887	GRB10	HP:0003199	Decreased muscle mass	HP:0040283	ORPHA:96182
2887	GRB10	HP:0004482	Relative macrocephaly	HP:0040282	ORPHA:96182
2887	GRB10	HP:0003162	Fasting hypoglycemia	HP:0040282	ORPHA:96182
2887	GRB10	HP:0000855	Insulin resistance	HP:0040283	ORPHA:96182
2887	GRB10	HP:0000826	Precocious puberty	HP:0040283	ORPHA:96182
2887	GRB10	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:96182
2887	GRB10	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:96182
2887	GRB10	HP:0030084	Clinodactyly	HP:0040282	ORPHA:96182
2887	GRB10	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:96182
2887	GRB10	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:96182
2887	GRB10	HP:0000201	Pierre-Robin sequence	HP:0040283	ORPHA:96182
2887	GRB10	HP:0001508	Failure to thrive	HP:0040282	ORPHA:96182
2887	GRB10	HP:0002835	Aspiration	HP:0040283	ORPHA:96182
2887	GRB10	HP:0001518	Small for gestational age	HP:0040282	ORPHA:96182
2887	GRB10	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:96182
2887	GRB10	HP:0011094	Increased overbite	HP:0040283	ORPHA:96182
2887	GRB10	HP:0000356	Abnormality of the outer ear	HP:0040282	ORPHA:96182
2887	GRB10	HP:0000347	Micrognathia	HP:0040281	ORPHA:96182
2887	GRB10	HP:0000331	Short chin	HP:0040283	ORPHA:96182
2887	GRB10	HP:0000325	Triangular face	HP:0040282	ORPHA:96182
2887	GRB10	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:96182
2887	GRB10	HP:0001620	Abnormally high-pitched voice	HP:0040283	ORPHA:96182
2887	GRB10	HP:0012412	Premature adrenarche	HP:0040283	ORPHA:96182
2887	GRB10	HP:0011220	Prominent forehead	HP:0040282	ORPHA:96182
2887	GRB10	HP:0012523	Oral aversion	HP:0040283	ORPHA:96182
2890	GRIA1	HP:0007302	Bipolar affective disorder	1/4	OMIM:619927
2890	GRIA1	HP:0010862	Delayed fine motor development	1/4	OMIM:619927
2890	GRIA1	HP:0010862	Delayed fine motor development	1/1	OMIM:619931
2890	GRIA1	HP:0010864	Intellectual disability, severe	1/1	OMIM:619931
2890	GRIA1	HP:0001270	Motor delay	2/3	OMIM:619927
2890	GRIA1	HP:0001250	Seizure	1/4	OMIM:619927
2890	GRIA1	HP:0001250	Seizure	1/1	OMIM:619931
2890	GRIA1	HP:0001249	Intellectual disability	8/8	OMIM:619927
2890	GRIA1	HP:0001260	Dysarthria	1/4	OMIM:619927
2890	GRIA1	HP:0001263	Global developmental delay	1/4	OMIM:619927
2890	GRIA1	HP:0001344	Absent speech	1/4	OMIM:619927
2890	GRIA1	HP:0001344	Absent speech	1/1	OMIM:619931
2890	GRIA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619931
2890	GRIA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619927
2890	GRIA1	HP:0002020	Gastroesophageal reflux	1/4	OMIM:619927
2890	GRIA1	HP:0010465	Precocious puberty in females	1/1	OMIM:619931
2890	GRIA1	HP:0002194	Delayed gross motor development	2/4	OMIM:619927
2890	GRIA1	HP:0003593	Infantile onset	4/4	OMIM:619927
2890	GRIA1	HP:0003593	Infantile onset	1/1	OMIM:619931
2890	GRIA1	HP:0100716	Self-injurious behavior	1/1	OMIM:619931
2890	GRIA1	HP:0002205	Recurrent respiratory infections	1/4	OMIM:619927
2890	GRIA1	HP:0007018	Attention deficit hyperactivity disorder	3/7	OMIM:619927
2890	GRIA1	HP:0011968	Feeding difficulties	1/1	OMIM:619931
2890	GRIA1	HP:0020049	Exodeviation	1/1	OMIM:619931
2890	GRIA1	HP:0002360	Sleep abnormality	2/4	OMIM:619927
2890	GRIA1	HP:0002360	Sleep abnormality	1/1	OMIM:619931
2890	GRIA1	HP:0011327	Posterior plagiocephaly	1/4	OMIM:619927
2890	GRIA1	HP:0000752	Hyperactivity	1/4	OMIM:619927
2890	GRIA1	HP:0100034	Motor tics	1/3	OMIM:619927
2890	GRIA1	HP:0000750	Delayed speech and language development	3/3	OMIM:619927
2890	GRIA1	HP:0000729	Autistic behavior	5/8	OMIM:619927
2890	GRIA1	HP:0000722	Compulsive behaviors	1/3	OMIM:619927
2890	GRIA1	HP:0000821	Hypothyroidism	1/4	OMIM:619927
2890	GRIA1	HP:0011182	Interictal epileptiform activity	1/1	OMIM:619931
2890	GRIA1	HP:0000483	Astigmatism	1/4	OMIM:619927
2890	GRIA1	HP:0012471	Thick vermilion border	1/4	OMIM:619927
2890	GRIA1	HP:0012450	Chronic constipation	1/1	OMIM:619931
2890	GRIA1	HP:0000506	Telecanthus	1/4	OMIM:619927
2891	GRIA2	HP:0020221	Clonic seizure	3/28	OMIM:618917
2891	GRIA2	HP:0001272	Cerebellar atrophy	6/23	OMIM:618917
2891	GRIA2	HP:0001249	Intellectual disability	28/28	OMIM:618917
2891	GRIA2	HP:0001263	Global developmental delay	28/28	OMIM:618917
2891	GRIA2	HP:0001257	Spasticity	1/22	OMIM:618917
2891	GRIA2	HP:0007359	Focal-onset seizure	8/28	OMIM:618917
2891	GRIA2	HP:0002540	Inability to walk	4/22	OMIM:618917
2891	GRIA2	HP:0000028	Cryptorchidism	1/15	OMIM:618917
2891	GRIA2	HP:0001332	Dystonia	1/22	OMIM:618917
2891	GRIA2	HP:0001344	Absent speech	14/25	OMIM:618917
2891	GRIA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618917
2891	GRIA2	HP:0012171	Stereotypical hand wringing	-	OMIM:618917
2891	GRIA2	HP:0002069	Bilateral tonic-clonic seizure	7/28	OMIM:618917
2891	GRIA2	HP:0002066	Gait ataxia	1/22	OMIM:618917
2891	GRIA2	HP:0002072	Chorea	1/22	OMIM:618917
2891	GRIA2	HP:0002059	Cerebral atrophy	4/23	OMIM:618917
2891	GRIA2	HP:0100716	Self-injurious behavior	1/22	OMIM:618917
2891	GRIA2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/28	OMIM:618917
2891	GRIA2	HP:0000733	Motor stereotypy	2/22	OMIM:618917
2891	GRIA2	HP:0000750	Delayed speech and language development	11/25	OMIM:618917
2891	GRIA2	HP:0000729	Autistic behavior	17/22	OMIM:618917
2891	GRIA2	HP:0000722	Compulsive behaviors	2/22	OMIM:618917
2891	GRIA2	HP:0000253	Progressive microcephaly	4/28	OMIM:618917
2891	GRIA2	HP:0032792	Tonic seizure	1/28	OMIM:618917
2891	GRIA2	HP:0001762	Talipes equinovarus	1/22	OMIM:618917
2892	GRIA3	HP:0002460	Distal muscle weakness	2/8	OMIM:300699
2892	GRIA3	HP:0002460	Distal muscle weakness	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0009909	Uplifted earlobe	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0010864	Intellectual disability, severe	3/3	OMIM:300699
2892	GRIA3	HP:0001276	Hypertonia	1/1	OMIM:300699
2892	GRIA3	HP:0001270	Motor delay	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0001250	Seizure	HP:0040282	ORPHA:364028
2892	GRIA3	HP:0001250	Seizure	5/11	OMIM:300699
2892	GRIA3	HP:0001249	Intellectual disability	8/8	OMIM:300699
2892	GRIA3	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0001265	Hyporeflexia	2/8	OMIM:300699
2892	GRIA3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:364028
2892	GRIA3	HP:0001257	Spasticity	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0000054	Micropenis	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0001347	Hyperreflexia	1/1	OMIM:300699
2892	GRIA3	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0001328	Specific learning disability	HP:0040282	ORPHA:364028
2892	GRIA3	HP:0001336	Myoclonus	3/9	OMIM:300699
2892	GRIA3	HP:0001336	Myoclonus	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0002650	Scoliosis	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0000189	Narrow palate	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0000188	Short upper lip	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0000194	Open mouth	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0007655	Eversion of lateral third of lower eyelids	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0001419	X-linked recessive inheritance	-	OMIM:300699
2892	GRIA3	HP:0002719	Recurrent infections	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0003487	Babinski sign	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0002119	Ventriculomegaly	1/1	OMIM:300699
2892	GRIA3	HP:0002133	Status epilepticus	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0003593	Infantile onset	1/1	OMIM:300699
2892	GRIA3	HP:0100716	Self-injurious behavior	3/3	OMIM:300699
2892	GRIA3	HP:0007021	Pain insensitivity	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0200085	Limb tremor	1/1	OMIM:300699
2892	GRIA3	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:364028
2892	GRIA3	HP:0006863	Severe expressive language delay	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0000675	Macrodontia of permanent maxillary central incisor	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0004322	Short stature	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0004322	Short stature	4/5	OMIM:300699
2892	GRIA3	HP:0006979	Sleep-wake cycle disturbance	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0006951	Retrocerebellar cyst	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0006913	Frontal cortical atrophy	1/1	OMIM:300699
2892	GRIA3	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:364028
2892	GRIA3	HP:0000742	Self-mutilation	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0000718	Aggressive behavior	3/3	OMIM:300699
2892	GRIA3	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0000717	Autism	2/8	OMIM:300699
2892	GRIA3	HP:0000729	Autistic behavior	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0000729	Autistic behavior	2/3	OMIM:300699
2892	GRIA3	HP:0000708	Atypical behavior	HP:0040282	ORPHA:364028
2892	GRIA3	HP:0000817	Reduced eye contact	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0000297	Facial hypotonia	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0000256	Macrocephaly	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0000256	Macrocephaly	2/8	OMIM:300699
2892	GRIA3	HP:0000272	Malar flattening	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0002816	Genu recurvatum	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0002808	Kyphosis	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0000248	Brachycephaly	3/3	OMIM:300699
2892	GRIA3	HP:0000248	Brachycephaly	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0001533	Slender build	6/8	OMIM:300699
2892	GRIA3	HP:0001533	Slender build	HP:0040282	ORPHA:364028
2892	GRIA3	HP:0000336	Prominent supraorbital ridges	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0000336	Prominent supraorbital ridges	3/3	OMIM:300699
2892	GRIA3	HP:0000322	Short philtrum	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0011182	Interictal epileptiform activity	1/1	OMIM:300699
2892	GRIA3	HP:0011167	Focal tonic seizure	1/1	OMIM:300699
2892	GRIA3	HP:0000400	Macrotia	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0000490	Deeply set eye	3/3	OMIM:300699
2892	GRIA3	HP:0000490	Deeply set eye	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0030236	Abnormality of muscle size	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0001763	Pes planus	HP:0040283	ORPHA:364028
2892	GRIA3	HP:0000508	Ptosis	HP:0040283	ORPHA:364028
2893	GRIA4	HP:0001276	Hypertonia	2/5	OMIM:617864
2893	GRIA4	HP:0001250	Seizure	2/5	OMIM:617864
2893	GRIA4	HP:0001249	Intellectual disability	5/5	OMIM:617864
2893	GRIA4	HP:0001263	Global developmental delay	5/5	OMIM:617864
2893	GRIA4	HP:0001257	Spasticity	2/5	OMIM:617864
2893	GRIA4	HP:0002540	Inability to walk	1/5	OMIM:617864
2893	GRIA4	HP:0002510	Spastic tetraplegia	1/5	OMIM:617864
2893	GRIA4	HP:0001344	Absent speech	3/5	OMIM:617864
2893	GRIA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:617864
2893	GRIA4	HP:0001319	Neonatal hypotonia	1/5	OMIM:617864
2893	GRIA4	HP:0011800	Midface retrusion	1/5	OMIM:617864
2893	GRIA4	HP:0002079	Hypoplasia of the corpus callosum	1/5	OMIM:617864
2893	GRIA4	HP:0002072	Chorea	1/5	OMIM:617864
2893	GRIA4	HP:0002120	Cerebral cortical atrophy	1/5	OMIM:617864
2893	GRIA4	HP:0002133	Status epilepticus	1/5	OMIM:617864
2893	GRIA4	HP:0002267	Exaggerated startle response	2/5	OMIM:617864
2893	GRIA4	HP:0003593	Infantile onset	5/5	OMIM:617864
2893	GRIA4	HP:0011968	Feeding difficulties	1/5	OMIM:617864
2893	GRIA4	HP:0010845	EEG with generalized slow activity	1/5	OMIM:617864
2893	GRIA4	HP:0000639	Nystagmus	1/5	OMIM:617864
2893	GRIA4	HP:0000609	Optic nerve hypoplasia	1/5	OMIM:617864
2893	GRIA4	HP:0004322	Short stature	1/5	OMIM:617864
2893	GRIA4	HP:0031936	Delayed ability to walk	3/5	OMIM:617864
2893	GRIA4	HP:0000737	Irritability	2/5	OMIM:617864
2893	GRIA4	HP:0000736	Short attention span	2/5	OMIM:617864
2893	GRIA4	HP:0034392	Joint contracture	1/5	OMIM:617864
2893	GRIA4	HP:0000252	Microcephaly	1/5	OMIM:617864
2893	GRIA4	HP:0001508	Failure to thrive	1/5	OMIM:617864
2893	GRIA4	HP:0000322	Short philtrum	1/5	OMIM:617864
2893	GRIA4	HP:0000303	Mandibular prognathia	1/5	OMIM:617864
2893	GRIA4	HP:0000400	Macrotia	3/5	OMIM:617864
2893	GRIA4	HP:0000486	Strabismus	1/5	OMIM:617864
2895	GRID2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:363432
2895	GRID2	HP:0001272	Cerebellar atrophy	3/3	OMIM:616204
2895	GRID2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:363432
2895	GRID2	HP:0001252	Hypotonia	6/7	OMIM:616204
2895	GRID2	HP:0001251	Ataxia	7/7	OMIM:616204
2895	GRID2	HP:0001249	Intellectual disability	4/4	OMIM:616204
2895	GRID2	HP:0001260	Dysarthria	3/3	OMIM:616204
2895	GRID2	HP:0001263	Global developmental delay	7/7	OMIM:616204
2895	GRID2	HP:0001371	Flexion contracture	1/4	OMIM:616204
2895	GRID2	HP:0001347	Hyperreflexia	3/3	OMIM:616204
2895	GRID2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616204
2895	GRID2	HP:0001310	Dysmetria	3/3	OMIM:616204
2895	GRID2	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:363432
2895	GRID2	HP:0002066	Gait ataxia	-	OMIM:616204
2895	GRID2	HP:0002078	Truncal ataxia	7/7	OMIM:616204
2895	GRID2	HP:0002078	Truncal ataxia	HP:0040281	ORPHA:363432
2895	GRID2	HP:0002075	Dysdiadochokinesis	3/3	OMIM:616204
2895	GRID2	HP:0002070	Limb ataxia	HP:0040281	ORPHA:363432
2895	GRID2	HP:0003487	Babinski sign	2/3	OMIM:616204
2895	GRID2	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:363432
2895	GRID2	HP:0003593	Infantile onset	3/3	OMIM:616204
2895	GRID2	HP:0002311	Incoordination	3/3	OMIM:616204
2895	GRID2	HP:0006855	Cerebellar vermis atrophy	2/2	OMIM:616204
2895	GRID2	HP:0006855	Cerebellar vermis atrophy	HP:0040282	ORPHA:363432
2895	GRID2	HP:0000640	Gaze-evoked nystagmus	HP:0040282	ORPHA:363432
2895	GRID2	HP:0000639	Nystagmus	3/3	OMIM:616204
2895	GRID2	HP:0000657	Oculomotor apraxia	3/3	OMIM:616204
2895	GRID2	HP:0000666	Horizontal nystagmus	3/4	OMIM:616204
2895	GRID2	HP:0000666	Horizontal nystagmus	HP:0040282	ORPHA:363432
2895	GRID2	HP:0004302	Functional motor deficit	HP:0040282	ORPHA:363432
2895	GRID2	HP:0000750	Delayed speech and language development	4/4	OMIM:616204
2895	GRID2	HP:0012444	Brain atrophy	HP:0040282	ORPHA:363432
2895	GRID2	HP:0000565	Esotropia	1/3	OMIM:616204
2895	GRID2	HP:0000543	Optic disc pallor	1/3	OMIM:616204
2896	GRN	HP:0002493	Upper motor neuron dysfunction	HP:0040283	ORPHA:275864
2896	GRN	HP:0002465	Poor speech	HP:0040281	ORPHA:275864
2896	GRN	HP:0002442	Dyscalculia	HP:0040281	ORPHA:275864
2896	GRN	HP:0002446	Astrocytosis	HP:0040283	ORPHA:275864
2896	GRN	HP:0002446	Astrocytosis	HP:0040283	ORPHA:100070
2896	GRN	HP:0002427	Expressive aphasia	HP:0040283	ORPHA:100070
2896	GRN	HP:0001297	Stroke	-	ORPHA:100070
2896	GRN	HP:0001272	Cerebellar atrophy	1/2	OMIM:614706
2896	GRN	HP:0001268	Mental deterioration	1/2	OMIM:614706
2896	GRN	HP:0001268	Mental deterioration	HP:0040281	ORPHA:275864
2896	GRN	HP:0001268	Mental deterioration	HP:0040281	ORPHA:100070
2896	GRN	HP:0001288	Gait disturbance	HP:0040283	ORPHA:275864
2896	GRN	HP:0001250	Seizure	2/2	OMIM:614706
2896	GRN	HP:0001251	Ataxia	2/2	OMIM:614706
2896	GRN	HP:0002591	Polyphagia	-	OMIM:607485
2896	GRN	HP:0008762	Repetitive compulsive behavior	-	OMIM:607485
2896	GRN	HP:0002529	Neuronal loss in central nervous system	-	OMIM:607485
2896	GRN	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:275864
2896	GRN	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:100070
2896	GRN	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:275864
2896	GRN	HP:0012001	EEG with generalized polyspikes	2/2	OMIM:614706
2896	GRN	HP:0000007	Autosomal recessive inheritance	-	OMIM:614706
2896	GRN	HP:0000006	Autosomal dominant inheritance	-	OMIM:607485
2896	GRN	HP:0001300	Parkinsonism	-	OMIM:607485
2896	GRN	HP:0001300	Parkinsonism	HP:0040283	ORPHA:100070
2896	GRN	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:275864
2896	GRN	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:275864
2896	GRN	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:100070
2896	GRN	HP:0002145	Frontotemporal dementia	-	OMIM:607485
2896	GRN	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:275864
2896	GRN	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:100070
2896	GRN	HP:0002123	Generalized myoclonic seizure	1/2	OMIM:614706
2896	GRN	HP:0002120	Cerebral cortical atrophy	-	OMIM:607485
2896	GRN	HP:0002186	Apraxia	-	OMIM:607485
2896	GRN	HP:0002186	Apraxia	HP:0040282	ORPHA:100070
2896	GRN	HP:0002185	Neurofibrillary tangles	-	OMIM:607485
2896	GRN	HP:0002185	Neurofibrillary tangles	-	ORPHA:100070
2896	GRN	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:100069
2896	GRN	HP:0002171	Gliosis	-	OMIM:607485
2896	GRN	HP:0010529	Echolalia	HP:0040281	ORPHA:275864
2896	GRN	HP:0010522	Dyslexia	HP:0040282	ORPHA:100069
2896	GRN	HP:0010522	Dyslexia	HP:0040281	ORPHA:275864
2896	GRN	HP:0010526	Dysgraphia	HP:0040282	ORPHA:100069
2896	GRN	HP:0010526	Dysgraphia	HP:0040281	ORPHA:275864
2896	GRN	HP:0010526	Dysgraphia	HP:0040283	ORPHA:100070
2896	GRN	HP:0010523	Alexia	HP:0040282	ORPHA:100069
2896	GRN	HP:0010523	Alexia	HP:0040282	ORPHA:100070
2896	GRN	HP:0007064	Progressive language deterioration	-	OMIM:607485
2896	GRN	HP:0002380	Fasciculations	HP:0040283	ORPHA:275864
2896	GRN	HP:0002381	Aphasia	HP:0040281	ORPHA:100069
2896	GRN	HP:0002381	Aphasia	20/20	OMIM:607485
2896	GRN	HP:0002381	Aphasia	HP:0040281	ORPHA:275864
2896	GRN	HP:0002381	Aphasia	HP:0040281	ORPHA:100070
2896	GRN	HP:0002366	Abnormal lower motor neuron morphology	HP:0040283	ORPHA:100070
2896	GRN	HP:0002371	Loss of speech	HP:0040281	ORPHA:275864
2896	GRN	HP:0002354	Memory impairment	-	OMIM:607485
2896	GRN	HP:0002354	Memory impairment	HP:0040281	ORPHA:275864
2896	GRN	HP:0002354	Memory impairment	HP:0040281	ORPHA:100070
2896	GRN	HP:0003678	Rapidly progressive	-	OMIM:614706
2896	GRN	HP:0007112	Temporal cortical atrophy	HP:0040281	ORPHA:100070
2896	GRN	HP:0002300	Mutism	-	OMIM:607485
2896	GRN	HP:0002300	Mutism	HP:0040283	ORPHA:275864
2896	GRN	HP:0002300	Mutism	HP:0040283	ORPHA:100070
2896	GRN	HP:5200321	Amplification of sexual behavior	-	OMIM:607485
2896	GRN	HP:0006892	Frontotemporal cerebral atrophy	HP:0040281	ORPHA:275864
2896	GRN	HP:0006892	Frontotemporal cerebral atrophy	HP:0040281	ORPHA:100070
2896	GRN	HP:0000648	Optic atrophy	1/1	OMIM:614706
2896	GRN	HP:0012671	Abulia	HP:0040282	ORPHA:100069
2896	GRN	HP:0012671	Abulia	HP:0040283	ORPHA:275864
2896	GRN	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:275864
2896	GRN	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:100070
2896	GRN	HP:0006977	Deficit in grammar	HP:0040281	ORPHA:100070
2896	GRN	HP:0006956	Lateral ventricle dilatation	-	OMIM:607485
2896	GRN	HP:0030692	Brain neoplasm	-	ORPHA:100070
2896	GRN	HP:0000757	Lack of insight	HP:0040281	ORPHA:275864
2896	GRN	HP:0000751	Personality changes	-	OMIM:607485
2896	GRN	HP:0000751	Personality changes	HP:0040281	ORPHA:275864
2896	GRN	HP:0000751	Personality changes	HP:0040283	ORPHA:100070
2896	GRN	HP:0000738	Hallucinations	-	OMIM:607485
2896	GRN	HP:0000737	Irritability	HP:0040281	ORPHA:275864
2896	GRN	HP:0000739	Anxiety	HP:0040282	ORPHA:100070
2896	GRN	HP:0000734	Disinhibition	-	OMIM:607485
2896	GRN	HP:0000734	Disinhibition	HP:0040281	ORPHA:275864
2896	GRN	HP:0000733	Motor stereotypy	HP:0040281	ORPHA:275864
2896	GRN	HP:0000741	Apathy	-	OMIM:607485
2896	GRN	HP:0000741	Apathy	HP:0040283	ORPHA:275864
2896	GRN	HP:0000719	Inappropriate behavior	HP:0040281	ORPHA:275864
2896	GRN	HP:0000716	Depression	HP:0040282	ORPHA:100070
2896	GRN	HP:0000718	Aggressive behavior	HP:0040281	ORPHA:275864
2896	GRN	HP:0000711	Restlessness	HP:0040281	ORPHA:275864
2896	GRN	HP:0000711	Restlessness	HP:0040283	ORPHA:100070
2896	GRN	HP:0000713	Agitation	-	OMIM:607485
2896	GRN	HP:0000710	Hyperorality	HP:0040281	ORPHA:275864
2896	GRN	HP:0000710	Hyperorality	-	OMIM:607485
2896	GRN	HP:0000726	Dementia	HP:0040282	ORPHA:100069
2896	GRN	HP:0000723	Restrictive behavior	HP:0040281	ORPHA:275864
2896	GRN	HP:0000709	Psychosis	HP:0040283	ORPHA:275864
2896	GRN	HP:0000708	Atypical behavior	HP:0040283	ORPHA:100070
2896	GRN	HP:0000708	Atypical behavior	HP:0040281	ORPHA:275864
2896	GRN	HP:0030784	Anomic aphasia	HP:0040281	ORPHA:100069
2896	GRN	HP:0100315	Lewy bodies	-	OMIM:607485
2896	GRN	HP:0100315	Lewy bodies	-	ORPHA:100070
2896	GRN	HP:0100256	Senile plaques	HP:0040283	ORPHA:100070
2896	GRN	HP:0030213	Emotional dearth	HP:0040281	ORPHA:275864
2896	GRN	HP:0030212	Collectionism	HP:0040282	ORPHA:275864
2896	GRN	HP:0030223	Perseverative thought	HP:0040281	ORPHA:275864
2896	GRN	HP:0030223	Perseverative thought	-	OMIM:607485
2896	GRN	HP:0030223	Perseverative thought	HP:0040283	ORPHA:100070
2896	GRN	HP:0030222	Visual agnosia	HP:0040281	ORPHA:100069
2896	GRN	HP:0012444	Brain atrophy	HP:0040281	ORPHA:100069
2896	GRN	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:275864
2896	GRN	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:100070
2896	GRN	HP:0025709	Intermediate young adult onset	2/2	OMIM:614706
2896	GRN	HP:0000505	Visual impairment	2/2	OMIM:614706
2896	GRN	HP:0000556	Retinal dystrophy	1/2	OMIM:614706
2896	GRN	HP:0011204	EEG with continuous slow activity	HP:0040282	ORPHA:275864
2896	GRN	HP:0011204	EEG with continuous slow activity	HP:0040282	ORPHA:100070
2896	GRN	HP:0030391	Spoken word recognition deficit	HP:0040281	ORPHA:100070
2898	GRIK2	HP:0001188	Hand clenching	1/11	OMIM:619580
2898	GRIK2	HP:0020221	Clonic seizure	1/11	OMIM:619580
2898	GRIK2	HP:0001298	Encephalopathy	1/11	OMIM:619580
2898	GRIK2	HP:0001290	Generalized hypotonia	2/12	OMIM:619580
2898	GRIK2	HP:0001272	Cerebellar atrophy	1/11	OMIM:619580
2898	GRIK2	HP:0001270	Motor delay	2/11	OMIM:619580
2898	GRIK2	HP:0001256	Intellectual disability, mild	1/2	OMIM:611092
2898	GRIK2	HP:0001252	Hypotonia	1/11	OMIM:619580
2898	GRIK2	HP:0001251	Ataxia	1/11	OMIM:619580
2898	GRIK2	HP:0001249	Intellectual disability	8/8	OMIM:619580
2898	GRIK2	HP:0001249	Intellectual disability	7/8	OMIM:611092
2898	GRIK2	HP:0001266	Choreoathetosis	1/1	OMIM:619580
2898	GRIK2	HP:0001263	Global developmental delay	12/12	OMIM:619580
2898	GRIK2	HP:0001263	Global developmental delay	7/8	OMIM:611092
2898	GRIK2	HP:0002540	Inability to walk	2/11	OMIM:619580
2898	GRIK2	HP:0002509	Limb hypertonia	2/11	OMIM:619580
2898	GRIK2	HP:0025336	Delayed ability to sit	2/12	OMIM:619580
2898	GRIK2	HP:0033725	Thin corpus callosum	2/11	OMIM:619580
2898	GRIK2	HP:0001344	Absent speech	2/11	OMIM:619580
2898	GRIK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:611092
2898	GRIK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619580
2898	GRIK2	HP:0001336	Myoclonus	1/2	OMIM:611092
2898	GRIK2	HP:0008936	Axial hypotonia	3/11	OMIM:619580
2898	GRIK2	HP:0002069	Bilateral tonic-clonic seizure	1/11	OMIM:619580
2898	GRIK2	HP:0002066	Gait ataxia	4/12	OMIM:619580
2898	GRIK2	HP:0002119	Ventriculomegaly	1/11	OMIM:619580
2898	GRIK2	HP:0003429	CNS hypomyelination	1/11	OMIM:619580
2898	GRIK2	HP:0002104	Apnea	1/11	OMIM:619580
2898	GRIK2	HP:0002188	Delayed CNS myelination	2/11	OMIM:619580
2898	GRIK2	HP:0002179	Opisthotonus	1/11	OMIM:619580
2898	GRIK2	HP:0002174	Postural tremor	1/2	OMIM:611092
2898	GRIK2	HP:0010529	Echolalia	1/11	OMIM:619580
2898	GRIK2	HP:0003593	Infantile onset	2/2	OMIM:611092
2898	GRIK2	HP:0100703	Tongue thrusting	1/11	OMIM:619580
2898	GRIK2	HP:0100704	Cerebral visual impairment	2/11	OMIM:619580
2898	GRIK2	HP:0100710	Impulsivity	1/11	OMIM:619580
2898	GRIK2	HP:0007018	Attention deficit hyperactivity disorder	1/11	OMIM:619580
2898	GRIK2	HP:0002384	Focal impaired awareness seizure	1/11	OMIM:619580
2898	GRIK2	HP:0010819	Atonic seizure	2/2	OMIM:611092
2898	GRIK2	HP:0010808	Protruding tongue	1/1	OMIM:619580
2898	GRIK2	HP:0003623	Neonatal onset	1/1	OMIM:619580
2898	GRIK2	HP:0002307	Drooling	1/1	OMIM:619580
2898	GRIK2	HP:0004305	Involuntary movements	1/2	OMIM:611092
2898	GRIK2	HP:0006934	Congenital nystagmus	1/11	OMIM:619580
2898	GRIK2	HP:0031936	Delayed ability to walk	5/12	OMIM:619580
2898	GRIK2	HP:0100023	Recurrent hand flapping	1/11	OMIM:619580
2898	GRIK2	HP:0000739	Anxiety	1/11	OMIM:619580
2898	GRIK2	HP:0000733	Motor stereotypy	1/1	OMIM:619580
2898	GRIK2	HP:0000736	Short attention span	2/12	OMIM:619580
2898	GRIK2	HP:0000750	Delayed speech and language development	9/12	OMIM:619580
2898	GRIK2	HP:0000749	Paroxysmal bursts of laughter	1/1	OMIM:619580
2898	GRIK2	HP:0000718	Aggressive behavior	2/11	OMIM:619580
2898	GRIK2	HP:0000712	Emotional lability	1/11	OMIM:619580
2898	GRIK2	HP:0000729	Autistic behavior	2/11	OMIM:619580
2898	GRIK2	HP:0012760	Reduced social responsiveness	1/2	OMIM:611092
2898	GRIK2	HP:0040082	Happy demeanor	3/12	OMIM:619580
2898	GRIK2	HP:0000961	Cyanosis	1/11	OMIM:619580
2898	GRIK2	HP:0000252	Microcephaly	1/1	OMIM:619580
2898	GRIK2	HP:0011097	Epileptic spasm	2/11	OMIM:619580
2898	GRIK2	HP:0007859	Congenital horizontal nystagmus	1/11	OMIM:619580
2898	GRIK2	HP:0030186	Kinetic tremor	1/2	OMIM:611092
2898	GRIK2	HP:0000365	Hearing impairment	1/11	OMIM:619580
2898	GRIK2	HP:0032792	Tonic seizure	2/11	OMIM:619580
2898	GRIK2	HP:0032794	Myoclonic seizure	1/11	OMIM:619580
2898	GRIK2	HP:0000486	Strabismus	1/11	OMIM:619580
2898	GRIK2	HP:0000473	Torticollis	1/2	OMIM:611092
2898	GRIK2	HP:0012510	Extra-axial cerebrospinal fluid accumulation	1/11	OMIM:619580
2902	GRIN1	HP:0002487	Hyperkinetic movements	-	OMIM:614254
2902	GRIN1	HP:0025100	Abnormal hippocampus morphology	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:208447
2902	GRIN1	HP:0010864	Intellectual disability, severe	2/2	OMIM:617820
2902	GRIN1	HP:0010864	Intellectual disability, severe	4/4	OMIM:614254
2902	GRIN1	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:1934
2902	GRIN1	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0002421	Poor head control	1/1	OMIM:619814
2902	GRIN1	HP:0002421	Poor head control	HP:0040282	ORPHA:1934
2902	GRIN1	HP:0003763	Bruxism	1/4	OMIM:614254
2902	GRIN1	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0001272	Cerebellar atrophy	1/4	OMIM:614254
2902	GRIN1	HP:0001254	Lethargy	HP:0040282	ORPHA:1934
2902	GRIN1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0001250	Seizure	0/2	OMIM:617820
2902	GRIN1	HP:0001250	Seizure	HP:0040280	ORPHA:1934
2902	GRIN1	HP:0001250	Seizure	HP:0040284	OMIM:614254
2902	GRIN1	HP:0001250	Seizure	1/1	OMIM:619814
2902	GRIN1	HP:0001252	Hypotonia	4/4	OMIM:617820
2902	GRIN1	HP:0001252	Hypotonia	1/2	OMIM:614254
2902	GRIN1	HP:0001252	Hypotonia	1/2	OMIM:619814
2902	GRIN1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1934
2902	GRIN1	HP:0001249	Intellectual disability	2/2	OMIM:614254
2902	GRIN1	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0001263	Global developmental delay	4/4	OMIM:617820
2902	GRIN1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1934
2902	GRIN1	HP:0001257	Spasticity	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0001257	Spasticity	HP:0040282	ORPHA:208447
2902	GRIN1	HP:0001257	Spasticity	2/2	OMIM:617820
2902	GRIN1	HP:0001257	Spasticity	-	OMIM:614254
2902	GRIN1	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0002540	Inability to walk	2/2	OMIM:617820
2902	GRIN1	HP:0002540	Inability to walk	4/4	OMIM:614254
2902	GRIN1	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:1934
2902	GRIN1	HP:0002510	Spastic tetraplegia	HP:0040282	ORPHA:208447
2902	GRIN1	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0000070	Ureterocele	HP:0040284	ORPHA:1934
2902	GRIN1	HP:0025336	Delayed ability to sit	2/2	OMIM:617820
2902	GRIN1	HP:0000054	Micropenis	HP:0040284	ORPHA:1934
2902	GRIN1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1934
2902	GRIN1	HP:0001347	Hyperreflexia	-	OMIM:614254
2902	GRIN1	HP:0001332	Dystonia	HP:0040284	ORPHA:1934
2902	GRIN1	HP:0001332	Dystonia	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0001332	Dystonia	2/2	OMIM:617820
2902	GRIN1	HP:0001332	Dystonia	-	OMIM:614254
2902	GRIN1	HP:0001344	Absent speech	2/2	OMIM:617820
2902	GRIN1	HP:0001344	Absent speech	1/4	OMIM:614254
2902	GRIN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617820
2902	GRIN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619814
2902	GRIN1	HP:0001337	Tremor	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614254
2902	GRIN1	HP:0001336	Myoclonus	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0001336	Myoclonus	1/1	OMIM:619814
2902	GRIN1	HP:0001336	Myoclonus	2/4	OMIM:614254
2902	GRIN1	HP:0001302	Pachygyria	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0002650	Scoliosis	-	OMIM:614254
2902	GRIN1	HP:0012171	Stereotypical hand wringing	2/4	OMIM:614254
2902	GRIN1	HP:0000175	Cleft palate	HP:0040284	ORPHA:1934
2902	GRIN1	HP:0008947	Floppy infant	HP:0040282	ORPHA:1934
2902	GRIN1	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:208447
2902	GRIN1	HP:0008936	Axial hypotonia	1/1	OMIM:619814
2902	GRIN1	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:1934
2902	GRIN1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0002020	Gastroesophageal reflux	1/1	OMIM:619814
2902	GRIN1	HP:0002019	Constipation	-	OMIM:614254
2902	GRIN1	HP:0002033	Poor suck	HP:0040282	ORPHA:1934
2902	GRIN1	HP:0002015	Dysphagia	HP:0040282	ORPHA:1934
2902	GRIN1	HP:0002007	Frontal bossing	2/2	OMIM:617820
2902	GRIN1	HP:0011800	Midface retrusion	1/2	OMIM:617820
2902	GRIN1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0002079	Hypoplasia of the corpus callosum	1/2	OMIM:617820
2902	GRIN1	HP:0002079	Hypoplasia of the corpus callosum	3/4	OMIM:614254
2902	GRIN1	HP:0002072	Chorea	3/4	OMIM:614254
2902	GRIN1	HP:0002059	Cerebral atrophy	2/4	OMIM:614254
2902	GRIN1	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:1934
2902	GRIN1	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0002120	Cerebral cortical atrophy	1/2	OMIM:617820
2902	GRIN1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0002119	Ventriculomegaly	3/4	OMIM:614254
2902	GRIN1	HP:0002133	Status epilepticus	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0002126	Polymicrogyria	HP:0040284	OMIM:614254
2902	GRIN1	HP:0002104	Apnea	1/1	OMIM:619814
2902	GRIN1	HP:0002187	Intellectual disability, profound	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0002197	Generalized-onset seizure	HP:0040282	ORPHA:208447
2902	GRIN1	HP:0002194	Delayed gross motor development	HP:0040281	ORPHA:208447
2902	GRIN1	HP:0002179	Opisthotonus	1/2	OMIM:619814
2902	GRIN1	HP:0010553	Oculogyric crisis	2/4	OMIM:614254
2902	GRIN1	HP:0010553	Oculogyric crisis	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0003593	Infantile onset	2/2	OMIM:617820
2902	GRIN1	HP:0003593	Infantile onset	3/4	OMIM:614254
2902	GRIN1	HP:0003577	Congenital onset	1/4	OMIM:614254
2902	GRIN1	HP:0100704	Cerebral visual impairment	HP:0040284	OMIM:614254
2902	GRIN1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:208447
2902	GRIN1	HP:0100716	Self-injurious behavior	2/2	OMIM:617820
2902	GRIN1	HP:0100716	Self-injurious behavior	-	OMIM:614254
2902	GRIN1	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1934
2902	GRIN1	HP:0200136	Oral-pharyngeal dysphagia	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0200134	Epileptic encephalopathy	-	OMIM:617820
2902	GRIN1	HP:0200134	Epileptic encephalopathy	3/3	OMIM:619814
2902	GRIN1	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:1934
2902	GRIN1	HP:0011968	Feeding difficulties	1/1	OMIM:619814
2902	GRIN1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1934
2902	GRIN1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:208447
2902	GRIN1	HP:0011968	Feeding difficulties	1/4	OMIM:614254
2902	GRIN1	HP:0002384	Focal impaired awareness seizure	2/6	OMIM:614254
2902	GRIN1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:1934
2902	GRIN1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0002376	Developmental regression	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0002376	Developmental regression	HP:0040284	ORPHA:208447
2902	GRIN1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1934
2902	GRIN1	HP:0002353	EEG abnormality	2/2	OMIM:617820
2902	GRIN1	HP:0002353	EEG abnormality	-	OMIM:614254
2902	GRIN1	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0025097	Eyelid myoclonus	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0100660	Dyskinesia	2/4	OMIM:614254
2902	GRIN1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0010821	Focal emotional seizure with laughing	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0010819	Atonic seizure	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0010819	Atonic seizure	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0007166	Paroxysmal dyskinesia	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0002300	Mutism	HP:0040282	ORPHA:208447
2902	GRIN1	HP:0003623	Neonatal onset	4/4	OMIM:619814
2902	GRIN1	HP:0006829	Severe muscular hypotonia	-	OMIM:614254
2902	GRIN1	HP:0011344	Severe global developmental delay	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0011344	Severe global developmental delay	3/3	OMIM:619814
2902	GRIN1	HP:0004322	Short stature	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0004305	Involuntary movements	1/2	OMIM:617820
2902	GRIN1	HP:0031936	Delayed ability to walk	HP:0040281	ORPHA:208447
2902	GRIN1	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0012736	Profound global developmental delay	1/1	OMIM:619814
2902	GRIN1	HP:0012736	Profound global developmental delay	HP:0040281	ORPHA:208447
2902	GRIN1	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:208447
2902	GRIN1	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:208447
2902	GRIN1	HP:0000733	Motor stereotypy	1/2	OMIM:617820
2902	GRIN1	HP:0000748	Inappropriate laughter	2/4	OMIM:614254
2902	GRIN1	HP:0012704	Widened subarachnoid space	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0000729	Autistic behavior	2/2	OMIM:617820
2902	GRIN1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:208447
2902	GRIN1	HP:0010174	Broad phalanx of the toes	HP:0040284	ORPHA:1934
2902	GRIN1	HP:0012760	Reduced social responsiveness	1/2	OMIM:617820
2902	GRIN1	HP:0003121	Limb joint contracture	1/1	OMIM:619814
2902	GRIN1	HP:0000817	Reduced eye contact	1/2	OMIM:617820
2902	GRIN1	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1934
2902	GRIN1	HP:0000954	Single transverse palmar crease	1/2	OMIM:617820
2902	GRIN1	HP:0009381	Short finger	HP:0040284	ORPHA:1934
2902	GRIN1	HP:0000276	Long face	3/4	OMIM:614254
2902	GRIN1	HP:0000252	Microcephaly	HP:0040284	ORPHA:1934
2902	GRIN1	HP:0000252	Microcephaly	2/4	OMIM:614254
2902	GRIN1	HP:0000252	Microcephaly	1/3	OMIM:619814
2902	GRIN1	HP:0000252	Microcephaly	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0025517	Hypoplastic hippocampus	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0002870	Obstructive sleep apnea	1/4	OMIM:614254
2902	GRIN1	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1934
2902	GRIN1	HP:0001508	Failure to thrive	HP:0040284	ORPHA:1934
2902	GRIN1	HP:0001500	Broad finger	HP:0040284	ORPHA:1934
2902	GRIN1	HP:0001510	Growth delay	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0007824	Total ophthalmoplegia	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0011097	Epileptic spasm	1/4	OMIM:614254
2902	GRIN1	HP:0005216	Impaired mastication	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0000340	Sloping forehead	HP:0040284	ORPHA:1934
2902	GRIN1	HP:0032794	Myoclonic seizure	1/4	OMIM:614254
2902	GRIN1	HP:0001662	Bradycardia	1/1	OMIM:619814
2902	GRIN1	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:1934
2902	GRIN1	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:1934
2902	GRIN1	HP:0011147	Typical absence seizure	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:1934
2902	GRIN1	HP:0011153	Focal motor seizure	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0001709	Third degree atrioventricular block	1/1	OMIM:619814
2902	GRIN1	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:1934
2902	GRIN1	HP:0000486	Strabismus	1/2	OMIM:617820
2902	GRIN1	HP:0000486	Strabismus	HP:0040284	ORPHA:1934
2902	GRIN1	HP:0012469	Infantile spasms	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0012469	Infantile spasms	HP:0040283	ORPHA:208447
2902	GRIN1	HP:0000490	Deeply set eye	3/4	OMIM:614254
2902	GRIN1	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1934
2902	GRIN1	HP:0012448	Delayed myelination	HP:0040283	ORPHA:1934
2902	GRIN1	HP:0012554	Absent thumbnail	HP:0040284	ORPHA:1934
2903	GRIN2A	HP:0002487	Hyperkinetic movements	HP:0040283	ORPHA:725
2903	GRIN2A	HP:0002463	Language impairment	HP:0040281	ORPHA:98818
2903	GRIN2A	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040282	ORPHA:98818
2903	GRIN2A	HP:0007270	Atypical absence seizure	HP:0040282	ORPHA:725
2903	GRIN2A	HP:0007270	Atypical absence seizure	HP:0040284	ORPHA:1945
2903	GRIN2A	HP:0007270	Atypical absence seizure	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:289266
2903	GRIN2A	HP:0002421	Poor head control	HP:0040282	ORPHA:289266
2903	GRIN2A	HP:0001276	Hypertonia	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0001250	Seizure	HP:0040281	ORPHA:163721
2903	GRIN2A	HP:0001250	Seizure	HP:0040281	ORPHA:725
2903	GRIN2A	HP:0001250	Seizure	7/8	OMIM:245570
2903	GRIN2A	HP:0001250	Seizure	HP:0040281	ORPHA:98818
2903	GRIN2A	HP:0001252	Hypotonia	4/6	OMIM:245570
2903	GRIN2A	HP:0001249	Intellectual disability	HP:0040282	ORPHA:163721
2903	GRIN2A	HP:0001249	Intellectual disability	HP:0040282	ORPHA:725
2903	GRIN2A	HP:0001249	Intellectual disability	9/44	OMIM:245570
2903	GRIN2A	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0001260	Dysarthria	HP:0040283	ORPHA:163721
2903	GRIN2A	HP:0001263	Global developmental delay	4/8	OMIM:245570
2903	GRIN2A	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:725
2903	GRIN2A	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0007359	Focal-onset seizure	4/33	OMIM:245570
2903	GRIN2A	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:163721
2903	GRIN2A	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:1945
2903	GRIN2A	HP:0007332	Focal hemifacial clonic seizure	HP:0040282	ORPHA:1945
2903	GRIN2A	HP:0007334	Bilateral tonic-clonic seizure with focal onset	3/33	OMIM:245570
2903	GRIN2A	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:163721
2903	GRIN2A	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:1945
2903	GRIN2A	HP:0002546	Incomprehensible speech	HP:0040283	ORPHA:163721
2903	GRIN2A	HP:0003829	Typified by incomplete penetrance	-	OMIM:245570
2903	GRIN2A	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0025373	Interictal EEG abnormality	HP:0040281	ORPHA:98818
2903	GRIN2A	HP:0012015	EEG with frontal focal spikes	HP:0040282	ORPHA:98818
2903	GRIN2A	HP:0012018	EEG with temporal focal spikes	HP:0040282	ORPHA:98818
2903	GRIN2A	HP:0001350	Slurred speech	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0012010	EEG with frontal focal spike waves	HP:0040282	ORPHA:725
2903	GRIN2A	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:725
2903	GRIN2A	HP:0012001	EEG with generalized polyspikes	HP:0040283	ORPHA:725
2903	GRIN2A	HP:0001332	Dystonia	HP:0040283	ORPHA:725
2903	GRIN2A	HP:0001328	Specific learning disability	HP:0040282	ORPHA:289266
2903	GRIN2A	HP:0001328	Specific learning disability	HP:0040283	ORPHA:163721
2903	GRIN2A	HP:0001328	Specific learning disability	HP:0040283	ORPHA:1945
2903	GRIN2A	HP:0001326	EEG with irregular generalized spike and wave complexes	HP:0040284	ORPHA:1945
2903	GRIN2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:245570
2903	GRIN2A	HP:0001336	Myoclonus	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0012171	Stereotypical hand wringing	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0025425	Laryngospasm	HP:0040282	ORPHA:1945
2903	GRIN2A	HP:0008947	Floppy infant	HP:0040282	ORPHA:289266
2903	GRIN2A	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:725
2903	GRIN2A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:725
2903	GRIN2A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:289266
2903	GRIN2A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0002069	Bilateral tonic-clonic seizure	4/33	OMIM:245570
2903	GRIN2A	HP:0002066	Gait ataxia	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:163721
2903	GRIN2A	HP:0002076	Migraine	HP:0040283	ORPHA:1945
2903	GRIN2A	HP:0003376	Steppage gait	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:98818
2903	GRIN2A	HP:0010535	Sleep apnea	HP:0040282	ORPHA:1945
2903	GRIN2A	HP:0003401	Paresthesia	HP:0040283	ORPHA:1945
2903	GRIN2A	HP:0002266	Focal clonic seizure	HP:0040283	ORPHA:725
2903	GRIN2A	HP:0100710	Impulsivity	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0200134	Epileptic encephalopathy	HP:0040284	ORPHA:98818
2903	GRIN2A	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:98818
2903	GRIN2A	HP:0007018	Attention deficit hyperactivity disorder	6/36	OMIM:245570
2903	GRIN2A	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:1945
2903	GRIN2A	HP:0007086	Social and occupational deterioration	HP:0040282	ORPHA:98818
2903	GRIN2A	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:725
2903	GRIN2A	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0002384	Focal impaired awareness seizure	4/33	OMIM:245570
2903	GRIN2A	HP:0002381	Aphasia	9/72	OMIM:245570
2903	GRIN2A	HP:0002381	Aphasia	HP:0040283	ORPHA:725
2903	GRIN2A	HP:0002381	Aphasia	HP:0040281	ORPHA:98818
2903	GRIN2A	HP:0003698	Difficulty standing	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0002359	Frequent falls	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0002376	Developmental regression	HP:0040282	ORPHA:725
2903	GRIN2A	HP:0002376	Developmental regression	HP:0040282	ORPHA:98818
2903	GRIN2A	HP:0002376	Developmental regression	19/35	OMIM:245570
2903	GRIN2A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1945
2903	GRIN2A	HP:0002371	Loss of speech	HP:0040281	ORPHA:98818
2903	GRIN2A	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0002354	Memory impairment	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0002349	Focal aware seizure	HP:0040282	ORPHA:725
2903	GRIN2A	HP:0002333	Motor deterioration	HP:0040283	ORPHA:725
2903	GRIN2A	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:289266
2903	GRIN2A	HP:0010819	Atonic seizure	1/33	OMIM:245570
2903	GRIN2A	HP:0010819	Atonic seizure	HP:0040283	ORPHA:725
2903	GRIN2A	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0002300	Mutism	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0002312	Clumsiness	HP:0040283	ORPHA:725
2903	GRIN2A	HP:0002307	Drooling	HP:0040282	ORPHA:163721
2903	GRIN2A	HP:0002307	Drooling	HP:0040282	ORPHA:1945
2903	GRIN2A	HP:0006813	Focal hemiclonic seizure	HP:0040282	ORPHA:725
2903	GRIN2A	HP:0009088	Speech articulation difficulties	HP:0040283	ORPHA:725
2903	GRIN2A	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:1945
2903	GRIN2A	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:98818
2903	GRIN2A	HP:0006889	Intellectual disability, borderline	HP:0040283	ORPHA:1945
2903	GRIN2A	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0004322	Short stature	3/7	OMIM:245570
2903	GRIN2A	HP:0004322	Short stature	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0031951	Nocturnal seizures	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0000752	Hyperactivity	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0012736	Profound global developmental delay	HP:0040282	ORPHA:289266
2903	GRIN2A	HP:0000739	Anxiety	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0000739	Anxiety	HP:0040283	ORPHA:1945
2903	GRIN2A	HP:0000736	Short attention span	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0000736	Short attention span	HP:0040283	ORPHA:163721
2903	GRIN2A	HP:0000736	Short attention span	HP:0040283	ORPHA:1945
2903	GRIN2A	HP:0000750	Delayed speech and language development	18/36	OMIM:245570
2903	GRIN2A	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:163721
2903	GRIN2A	HP:0000716	Depression	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0000716	Depression	HP:0040283	ORPHA:1945
2903	GRIN2A	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:725
2903	GRIN2A	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0000712	Emotional lability	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0000712	Emotional lability	HP:0040283	ORPHA:1945
2903	GRIN2A	HP:0000729	Autistic behavior	HP:0040283	ORPHA:725
2903	GRIN2A	HP:0000729	Autistic behavior	HP:0040282	ORPHA:98818
2903	GRIN2A	HP:0000729	Autistic behavior	1/36	OMIM:245570
2903	GRIN2A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:289266
2903	GRIN2A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:98818
2903	GRIN2A	HP:0011451	Primary microcephaly	1/3	OMIM:245570
2903	GRIN2A	HP:0011451	Primary microcephaly	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0003196	Short nose	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0003196	Short nose	1/8	OMIM:245570
2903	GRIN2A	HP:0010300	Abnormally low-pitched voice	HP:0040283	ORPHA:163721
2903	GRIN2A	HP:0030057	Autoimmune antibody positivity	HP:0040284	ORPHA:98818
2903	GRIN2A	HP:0032671	Non-convulsive status epilepticus without coma	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0001518	Small for gestational age	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0001518	Small for gestational age	1/4	OMIM:245570
2903	GRIN2A	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0011098	Speech apraxia	8/36	OMIM:245570
2903	GRIN2A	HP:0011098	Speech apraxia	HP:0040281	ORPHA:163721
2903	GRIN2A	HP:0011098	Speech apraxia	HP:0040283	ORPHA:725
2903	GRIN2A	HP:0011098	Speech apraxia	HP:0040281	ORPHA:98818
2903	GRIN2A	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:163721
2903	GRIN2A	HP:0031434	Abnormal prosody	HP:0040283	ORPHA:163721
2903	GRIN2A	HP:0031491	Continuous spike and waves during slow sleep	33/69	OMIM:245570
2903	GRIN2A	HP:0031491	Continuous spike and waves during slow sleep	HP:0040282	ORPHA:163721
2903	GRIN2A	HP:0031491	Continuous spike and waves during slow sleep	HP:0040281	ORPHA:98818
2903	GRIN2A	HP:0031491	Continuous spike and waves during slow sleep	HP:0040281	ORPHA:725
2903	GRIN2A	HP:0011196	EEG with focal sharp waves	HP:0040282	ORPHA:163721
2903	GRIN2A	HP:0011198	EEG with generalized epileptiform discharges	HP:0040282	ORPHA:163721
2903	GRIN2A	HP:0011198	EEG with generalized epileptiform discharges	HP:0040282	ORPHA:98818
2903	GRIN2A	HP:0011182	Interictal epileptiform activity	HP:0040281	ORPHA:725
2903	GRIN2A	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0011166	Focal myoclonic seizure	HP:0040283	ORPHA:98818
2903	GRIN2A	HP:0011147	Typical absence seizure	HP:0040283	ORPHA:725
2903	GRIN2A	HP:0011150	Myoclonic absence seizure	HP:0040283	ORPHA:725
2903	GRIN2A	HP:0011153	Focal motor seizure	HP:0040282	ORPHA:725
2903	GRIN2A	HP:0011153	Focal motor seizure	HP:0040282	ORPHA:98818
2903	GRIN2A	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0001761	Pes cavus	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0001761	Pes cavus	1/8	OMIM:245570
2903	GRIN2A	HP:0005484	Secondary microcephaly	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0012557	EEG with centrotemporal focal spike waves	HP:0040282	ORPHA:725
2903	GRIN2A	HP:0012557	EEG with centrotemporal focal spike waves	HP:0040281	ORPHA:1945
2903	GRIN2A	HP:0012557	EEG with centrotemporal focal spike waves	21/39	OMIM:245570
2903	GRIN2A	HP:0012547	Abnormal involuntary eye movements	HP:0040283	ORPHA:289266
2903	GRIN2A	HP:0012534	Dysesthesia	HP:0040283	ORPHA:1945
2903	GRIN2A	HP:0030391	Spoken word recognition deficit	HP:0040281	ORPHA:98818
2904	GRIN2B	HP:0001290	Generalized hypotonia	-	OMIM:613970
2904	GRIN2B	HP:0001250	Seizure	-	OMIM:616139
2904	GRIN2B	HP:0001250	Seizure	0/6	OMIM:613970
2904	GRIN2B	HP:0001252	Hypotonia	1/2	OMIM:616139
2904	GRIN2B	HP:0001249	Intellectual disability	-	OMIM:616139
2904	GRIN2B	HP:0001249	Intellectual disability	7/7	OMIM:613970
2904	GRIN2B	HP:0001263	Global developmental delay	2/2	OMIM:616139
2904	GRIN2B	HP:0001263	Global developmental delay	1/1	OMIM:613970
2904	GRIN2B	HP:0001257	Spasticity	-	OMIM:616139
2904	GRIN2B	HP:0001257	Spasticity	-	OMIM:613970
2904	GRIN2B	HP:0002521	Hypsarrhythmia	HP:0040281	ORPHA:697160
2904	GRIN2B	HP:0002521	Hypsarrhythmia	2/2	OMIM:616139
2904	GRIN2B	HP:0025336	Delayed ability to sit	2/2	OMIM:616139
2904	GRIN2B	HP:0000023	Inguinal hernia	1/6	OMIM:613970
2904	GRIN2B	HP:0000028	Cryptorchidism	1/4	OMIM:613970
2904	GRIN2B	HP:0001332	Dystonia	1/2	OMIM:616139
2904	GRIN2B	HP:0001332	Dystonia	-	OMIM:613970
2904	GRIN2B	HP:0001344	Absent speech	2/2	OMIM:616139
2904	GRIN2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:613970
2904	GRIN2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:616139
2904	GRIN2B	HP:0001336	Myoclonus	1/2	OMIM:616139
2904	GRIN2B	HP:0001336	Myoclonus	HP:0040281	ORPHA:697160
2904	GRIN2B	HP:0008936	Axial hypotonia	1/2	OMIM:616139
2904	GRIN2B	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:613970
2904	GRIN2B	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:616139
2904	GRIN2B	HP:0002072	Chorea	-	OMIM:613970
2904	GRIN2B	HP:0002072	Chorea	-	OMIM:616139
2904	GRIN2B	HP:0002133	Status epilepticus	1/1	OMIM:613970
2904	GRIN2B	HP:0003593	Infantile onset	2/2	OMIM:616139
2904	GRIN2B	HP:0200134	Epileptic encephalopathy	-	OMIM:616139
2904	GRIN2B	HP:0011968	Feeding difficulties	1/2	OMIM:616139
2904	GRIN2B	HP:0002384	Focal impaired awareness seizure	1/1	OMIM:613970
2904	GRIN2B	HP:0002376	Developmental regression	HP:0040281	ORPHA:697160
2904	GRIN2B	HP:0002353	EEG abnormality	3/6	OMIM:613970
2904	GRIN2B	HP:0100660	Dyskinesia	-	OMIM:613970
2904	GRIN2B	HP:0100660	Dyskinesia	-	OMIM:616139
2904	GRIN2B	HP:0000708	Atypical behavior	6/6	OMIM:613970
2904	GRIN2B	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:697160
2904	GRIN2B	HP:0000817	Reduced eye contact	1/2	OMIM:616139
2904	GRIN2B	HP:0000821	Hypothyroidism	1/6	OMIM:613970
2904	GRIN2B	HP:0040196	Mild microcephaly	1/2	OMIM:616139
2904	GRIN2B	HP:0000252	Microcephaly	HP:0040284	OMIM:616139
2904	GRIN2B	HP:0000252	Microcephaly	1/6	OMIM:613970
2904	GRIN2B	HP:0011097	Epileptic spasm	1/2	OMIM:616139
2904	GRIN2B	HP:0032794	Myoclonic seizure	1/2	OMIM:616139
2904	GRIN2B	HP:0012469	Infantile spasms	HP:0040281	ORPHA:697160
2904	GRIN2B	HP:0012469	Infantile spasms	2/2	OMIM:616139
2904	GRIN2B	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:697160
2904	GRIN2B	HP:0001763	Pes planus	1/6	OMIM:613970
2904	GRIN2B	HP:0000453	Choanal atresia	1/6	OMIM:613970
2906	GRIN2D	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
2906	GRIN2D	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
2906	GRIN2D	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0001250	Seizure	HP:0040282	ORPHA:442835
2906	GRIN2D	HP:0001250	Seizure	2/2	OMIM:617162
2906	GRIN2D	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
2906	GRIN2D	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
2906	GRIN2D	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
2906	GRIN2D	HP:0001263	Global developmental delay	2/2	OMIM:617162
2906	GRIN2D	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0002521	Hypsarrhythmia	1/2	OMIM:617162
2906	GRIN2D	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0002509	Limb hypertonia	2/2	OMIM:617162
2906	GRIN2D	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
2906	GRIN2D	HP:0001344	Absent speech	-	OMIM:617162
2906	GRIN2D	HP:0001337	Tremor	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0001337	Tremor	1/2	OMIM:617162
2906	GRIN2D	HP:0000006	Autosomal dominant inheritance	-	OMIM:617162
2906	GRIN2D	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0008936	Axial hypotonia	2/2	OMIM:617162
2906	GRIN2D	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0002015	Dysphagia	1/2	OMIM:617162
2906	GRIN2D	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0002059	Cerebral atrophy	HP:0040284	OMIM:617162
2906	GRIN2D	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
2906	GRIN2D	HP:0002197	Generalized-onset seizure	1/2	OMIM:617162
2906	GRIN2D	HP:0003593	Infantile onset	1/2	OMIM:617162
2906	GRIN2D	HP:0100704	Cerebral visual impairment	1/2	OMIM:617162
2906	GRIN2D	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0200134	Epileptic encephalopathy	2/2	OMIM:617162
2906	GRIN2D	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0011968	Feeding difficulties	1/2	OMIM:617162
2906	GRIN2D	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
2906	GRIN2D	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
2906	GRIN2D	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0003623	Neonatal onset	1/2	OMIM:617162
2906	GRIN2D	HP:0002307	Drooling	1/2	OMIM:617162
2906	GRIN2D	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
2906	GRIN2D	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0004322	Short stature	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
2906	GRIN2D	HP:0000717	Autism	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
2906	GRIN2D	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0000252	Microcephaly	1/2	OMIM:617162
2906	GRIN2D	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0001558	Decreased fetal movement	1/2	OMIM:617162
2906	GRIN2D	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
2906	GRIN2D	HP:0001508	Failure to thrive	1/2	OMIM:617162
2906	GRIN2D	HP:0000348	High forehead	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0001763	Pes planus	2/2	OMIM:617162
2906	GRIN2D	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
2906	GRIN2D	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
2906	GRIN2D	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
2906	GRIN2D	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
2908	NR3C1	HP:0001123	Visual field defect	HP:0040284	ORPHA:96253
2908	NR3C1	HP:0010885	Avascular necrosis	HP:0040284	ORPHA:96253
2908	NR3C1	HP:0033505	Livedo reticularis	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0001297	Stroke	HP:0040284	ORPHA:786
2908	NR3C1	HP:0001297	Stroke	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0025269	Panic attack	HP:0040284	ORPHA:96253
2908	NR3C1	HP:0025383	Dorsocervical fat pad	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0025380	Increased circulating androstenedione concentration	1/1	OMIM:615962
2908	NR3C1	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:786
2908	NR3C1	HP:0012030	Increased urinary cortisol level	HP:0040281	ORPHA:96253
2908	NR3C1	HP:0012030	Increased urinary cortisol level	HP:0040281	ORPHA:786
2908	NR3C1	HP:0002690	Large sella turcica	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615962
2908	NR3C1	HP:0000141	Amenorrhea	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0031284	Flushing	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0500011	Moon facies	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0002721	Immunodeficiency	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0040270	Impaired glucose tolerance	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0010458	Female pseudohermaphroditism	HP:0040283	ORPHA:786
2908	NR3C1	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0040281	ORPHA:96253
2908	NR3C1	HP:0008221	Adrenal hyperplasia	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0008221	Adrenal hyperplasia	HP:0040282	ORPHA:786
2908	NR3C1	HP:0008291	Pituitary corticotropic cell adenoma	HP:0040281	ORPHA:96253
2908	NR3C1	HP:0200114	Metabolic alkalosis	-	OMIM:615962
2908	NR3C1	HP:0200114	Metabolic alkalosis	HP:0040282	ORPHA:786
2908	NR3C1	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0002292	Frontal balding	HP:0040283	ORPHA:786
2908	NR3C1	HP:0011999	Paranoia	HP:0040284	ORPHA:96253
2908	NR3C1	HP:0001058	Poor wound healing	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0001050	Plethora	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0025017	Capillary fragility	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0001065	Striae distensae	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0001061	Acne	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0001061	Acne	HP:0040282	ORPHA:786
2908	NR3C1	HP:0001007	Hirsutism	HP:0040281	ORPHA:786
2908	NR3C1	HP:0001007	Hirsutism	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0001007	Hirsutism	-	OMIM:615962
2908	NR3C1	HP:0002354	Memory impairment	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0002315	Headache	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0200042	Skin ulcer	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0010741	Pedal edema	HP:0040284	ORPHA:96253
2908	NR3C1	HP:0031845	Abnormal libido	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0031891	Decreased total eosinophil count	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0001943	Hypoglycemia	-	OMIM:615962
2908	NR3C1	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:786
2908	NR3C1	HP:0001956	Truncal obesity	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0011370	Recurrent cutaneous fungal infections	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0004324	Increased body weight	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0004319	Decreased circulating aldosterone concentration	HP:0040281	ORPHA:786
2908	NR3C1	HP:0012743	Abdominal obesity	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0000739	Anxiety	HP:0040283	OMIM:615962
2908	NR3C1	HP:0000716	Depression	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0000712	Emotional lability	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0000726	Dementia	HP:0040284	ORPHA:96253
2908	NR3C1	HP:0000725	Psychotic episodes	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0000709	Psychosis	HP:0040284	ORPHA:96253
2908	NR3C1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0011462	Young adult onset	1/1	OMIM:615962
2908	NR3C1	HP:0000798	Oligozoospermia	HP:0040283	ORPHA:786
2908	NR3C1	HP:0000789	Infertility	HP:0040283	ORPHA:786
2908	NR3C1	HP:0000789	Infertility	HP:0040283	OMIM:615962
2908	NR3C1	HP:0003118	Increased circulating cortisol level	HP:0040281	ORPHA:96253
2908	NR3C1	HP:0003118	Increased circulating cortisol level	HP:0040283	ORPHA:786
2908	NR3C1	HP:0003118	Increased circulating cortisol level	3/3	OMIM:615962
2908	NR3C1	HP:0003154	Increased circulating ACTH level	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0003154	Increased circulating ACTH level	HP:0040281	ORPHA:786
2908	NR3C1	HP:0003154	Increased circulating ACTH level	1/1	OMIM:615962
2908	NR3C1	HP:0000876	Oligomenorrhea	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0000876	Oligomenorrhea	HP:0040282	ORPHA:786
2908	NR3C1	HP:0000858	Irregular menstruation	1/1	OMIM:615962
2908	NR3C1	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0000826	Precocious puberty	HP:0040283	ORPHA:786
2908	NR3C1	HP:0000822	Hypertension	HP:0040282	ORPHA:786
2908	NR3C1	HP:0000822	Hypertension	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0000822	Hypertension	-	OMIM:615962
2908	NR3C1	HP:0010284	Intra-oral hyperpigmentation	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0000979	Purpura	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0000963	Thin skin	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0000939	Osteoporosis	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0030087	Abnormal circulating testosterone concentration	HP:0040282	ORPHA:786
2908	NR3C1	HP:0030088	Increased serum testosterone level	1/1	OMIM:615962
2908	NR3C1	HP:0031364	Ecchymosis	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0007807	Optic nerve compression	HP:0040284	ORPHA:96253
2908	NR3C1	HP:0012378	Fatigue	-	OMIM:615962
2908	NR3C1	HP:0012378	Fatigue	HP:0040281	ORPHA:786
2908	NR3C1	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0002900	Hypokalemia	HP:0040282	ORPHA:786
2908	NR3C1	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:96253
2908	NR3C1	HP:0002953	Vertebral compression fracture	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:96253
2908	NR3C1	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:96253
2911	GRM1	HP:0007256	Abnormal pyramidal sign	-	OMIM:614831
2911	GRM1	HP:0002406	Limb dysmetria	HP:0040282	ORPHA:324262
2911	GRM1	HP:0001272	Cerebellar atrophy	3/3	OMIM:617691
2911	GRM1	HP:0001272	Cerebellar atrophy	8/8	OMIM:614831
2911	GRM1	HP:0001271	Polyneuropathy	1/7	OMIM:614831
2911	GRM1	HP:0001271	Polyneuropathy	HP:0040283	ORPHA:324262
2911	GRM1	HP:0001270	Motor delay	1/7	OMIM:617691
2911	GRM1	HP:0001250	Seizure	HP:0040283	ORPHA:324262
2911	GRM1	HP:0001250	Seizure	2/10	OMIM:614831
2911	GRM1	HP:0001251	Ataxia	7/7	OMIM:617691
2911	GRM1	HP:0001251	Ataxia	1/1	OMIM:614831
2911	GRM1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:324262
2911	GRM1	HP:0001249	Intellectual disability	10/10	OMIM:614831
2911	GRM1	HP:0001260	Dysarthria	1/7	OMIM:617691
2911	GRM1	HP:0001260	Dysarthria	5/5	OMIM:614831
2911	GRM1	HP:0001263	Global developmental delay	10/10	OMIM:614831
2911	GRM1	HP:0001257	Spasticity	1/7	OMIM:617691
2911	GRM1	HP:0007338	Hypermetric saccades	1/1	OMIM:617691
2911	GRM1	HP:0002540	Inability to walk	1/1	OMIM:614831
2911	GRM1	HP:0001348	Brisk reflexes	1/7	OMIM:617691
2911	GRM1	HP:0001347	Hyperreflexia	9/10	OMIM:614831
2911	GRM1	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:324262
2911	GRM1	HP:0001344	Absent speech	1/1	OMIM:614831
2911	GRM1	HP:0001344	Absent speech	HP:0040283	ORPHA:324262
2911	GRM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614831
2911	GRM1	HP:0001337	Tremor	10/10	OMIM:614831
2911	GRM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617691
2911	GRM1	HP:0001310	Dysmetria	11/11	OMIM:614831
2911	GRM1	HP:0001310	Dysmetria	2/2	OMIM:617691
2911	GRM1	HP:0001310	Dysmetria	HP:0040282	ORPHA:324262
2911	GRM1	HP:0008936	Axial hypotonia	1/1	OMIM:614831
2911	GRM1	HP:0002015	Dysphagia	1/7	OMIM:617691
2911	GRM1	HP:0002066	Gait ataxia	10/10	OMIM:614831
2911	GRM1	HP:0002066	Gait ataxia	3/3	OMIM:617691
2911	GRM1	HP:0002066	Gait ataxia	HP:0040281	ORPHA:324262
2911	GRM1	HP:0002075	Dysdiadochokinesis	2/2	OMIM:617691
2911	GRM1	HP:0002075	Dysdiadochokinesis	10/10	OMIM:614831
2911	GRM1	HP:0002075	Dysdiadochokinesis	HP:0040282	ORPHA:324262
2911	GRM1	HP:0002198	Dilated fourth ventricle	4/7	OMIM:614831
2911	GRM1	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:324262
2911	GRM1	HP:0003593	Infantile onset	-	OMIM:614831
2911	GRM1	HP:0007068	Inferior cerebellar vermis hypoplasia	3/7	OMIM:614831
2911	GRM1	HP:0003698	Difficulty standing	HP:0040281	ORPHA:324262
2911	GRM1	HP:0002359	Frequent falls	3/7	OMIM:617691
2911	GRM1	HP:0003677	Slowly progressive	-	OMIM:614831
2911	GRM1	HP:0003677	Slowly progressive	-	OMIM:617691
2911	GRM1	HP:0000640	Gaze-evoked nystagmus	1/1	OMIM:614831
2911	GRM1	HP:0011347	Abnormality of ocular abduction	HP:0040282	ORPHA:324262
2911	GRM1	HP:0011344	Severe global developmental delay	1/1	OMIM:614831
2911	GRM1	HP:0004322	Short stature	7/10	OMIM:614831
2911	GRM1	HP:0004302	Functional motor deficit	HP:0040282	ORPHA:324262
2911	GRM1	HP:0006951	Retrocerebellar cyst	5/7	OMIM:614831
2911	GRM1	HP:0000750	Delayed speech and language development	1/7	OMIM:617691
2911	GRM1	HP:0000750	Delayed speech and language development	10/10	OMIM:614831
2911	GRM1	HP:0012378	Fatigue	1/10	OMIM:614831
2911	GRM1	HP:0000360	Tinnitus	3/7	OMIM:617691
2911	GRM1	HP:0007979	Gaze-evoked horizontal nystagmus	3/10	OMIM:614831
2911	GRM1	HP:0007979	Gaze-evoked horizontal nystagmus	HP:0040283	ORPHA:324262
2911	GRM1	HP:0000486	Strabismus	1/1	OMIM:614831
2911	GRM1	HP:0000508	Ptosis	HP:0040283	ORPHA:324262
2911	GRM1	HP:0000508	Ptosis	3/10	OMIM:614831
2911	GRM1	HP:0000571	Hypometric saccades	4/10	OMIM:614831
2911	GRM1	HP:0000571	Hypometric saccades	HP:0040282	ORPHA:324262
2911	GRM1	HP:0000565	Esotropia	4/10	OMIM:614831
2911	GRM1	HP:0000565	Esotropia	HP:0040282	ORPHA:324262
2916	GRM6	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
2916	GRM6	HP:0012047	Hemeralopia	-	OMIM:257270
2916	GRM6	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
2916	GRM6	HP:0000007	Autosomal recessive inheritance	-	OMIM:257270
2916	GRM6	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
2916	GRM6	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
2916	GRM6	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
2916	GRM6	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:215
2916	GRM6	HP:0007642	Congenital stationary night blindness	3/3	OMIM:257270
2916	GRM6	HP:0003621	Juvenile onset	8/19	OMIM:180100
2916	GRM6	HP:0000639	Nystagmus	HP:0040282	ORPHA:215
2916	GRM6	HP:0030469	Abnormal dark-adapted electroretinogram	HP:0040281	ORPHA:215
2916	GRM6	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	HP:0040283	ORPHA:215
2916	GRM6	HP:0000662	Nyctalopia	26/28	OMIM:180100
2916	GRM6	HP:0000662	Nyctalopia	3/3	OMIM:257270
2916	GRM6	HP:0000662	Nyctalopia	HP:0040281	ORPHA:215
2916	GRM6	HP:0000666	Horizontal nystagmus	1/3	OMIM:257270
2916	GRM6	HP:0030639	Congenital stationary night blindness with abnormal fundus	HP:0040282	ORPHA:215
2916	GRM6	HP:0030638	Congenital stationary night blindness with normal fundus	HP:0040282	ORPHA:215
2916	GRM6	HP:0011463	Childhood onset	3/19	OMIM:180100
2916	GRM6	HP:0011463	Childhood onset	3/3	OMIM:257270
2916	GRM6	HP:0011462	Young adult onset	8/19	OMIM:180100
2916	GRM6	HP:0007703	Abnormality of retinal pigmentation	HP:0040284	ORPHA:215
2916	GRM6	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
2916	GRM6	HP:0007737	Bone spicule pigmentation of the retina	1/2	OMIM:257270
2916	GRM6	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
2916	GRM6	HP:0030329	Retinal thinning	HP:0040284	ORPHA:215
2916	GRM6	HP:0007984	Electronegative electroretinogram	HP:0040283	ORPHA:215
2916	GRM6	HP:0000486	Strabismus	HP:0040282	ORPHA:215
2916	GRM6	HP:0031705	Compensatory head posture	HP:0040283	ORPHA:215
2916	GRM6	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
2916	GRM6	HP:0000575	Scotoma	5/18	OMIM:180100
2916	GRM6	HP:0000540	Hypermetropia	HP:0040283	ORPHA:215
2916	GRM6	HP:0000551	Color vision defect	HP:0040284	ORPHA:215
2916	GRM6	HP:0000543	Optic disc pallor	1/1	OMIM:180100
2916	GRM6	HP:0000545	Myopia	-	OMIM:180100
2916	GRM6	HP:0000545	Myopia	HP:0040281	ORPHA:215
2916	GRM6	HP:0000545	Myopia	2/3	OMIM:257270
2917	GRM7	HP:0410170	Hippocampal atrophy	2/9	OMIM:618922
2917	GRM7	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:1934
2917	GRM7	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:1934
2917	GRM7	HP:0002421	Poor head control	HP:0040282	ORPHA:1934
2917	GRM7	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:1934
2917	GRM7	HP:0001272	Cerebellar atrophy	4/10	OMIM:618922
2917	GRM7	HP:0001254	Lethargy	HP:0040282	ORPHA:1934
2917	GRM7	HP:0001250	Seizure	HP:0040280	ORPHA:1934
2917	GRM7	HP:0001250	Seizure	11/11	OMIM:618922
2917	GRM7	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1934
2917	GRM7	HP:0001249	Intellectual disability	11/11	OMIM:618922
2917	GRM7	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:1934
2917	GRM7	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1934
2917	GRM7	HP:0001257	Spasticity	HP:0040283	ORPHA:1934
2917	GRM7	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:1934
2917	GRM7	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:1934
2917	GRM7	HP:0002509	Limb hypertonia	7/8	OMIM:618922
2917	GRM7	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:1934
2917	GRM7	HP:0000070	Ureterocele	HP:0040284	ORPHA:1934
2917	GRM7	HP:0000054	Micropenis	HP:0040284	ORPHA:1934
2917	GRM7	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1934
2917	GRM7	HP:0001347	Hyperreflexia	4/6	OMIM:618922
2917	GRM7	HP:0001332	Dystonia	HP:0040284	ORPHA:1934
2917	GRM7	HP:0000007	Autosomal recessive inheritance	-	OMIM:618922
2917	GRM7	HP:0001337	Tremor	HP:0040283	ORPHA:1934
2917	GRM7	HP:0001336	Myoclonus	HP:0040283	ORPHA:1934
2917	GRM7	HP:0001302	Pachygyria	HP:0040283	ORPHA:1934
2917	GRM7	HP:0002643	Neonatal respiratory distress	5/11	OMIM:618922
2917	GRM7	HP:0000175	Cleft palate	HP:0040284	ORPHA:1934
2917	GRM7	HP:0008947	Floppy infant	HP:0040282	ORPHA:1934
2917	GRM7	HP:0008936	Axial hypotonia	8/8	OMIM:618922
2917	GRM7	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:1934
2917	GRM7	HP:0002719	Recurrent infections	6/11	OMIM:618922
2917	GRM7	HP:0002033	Poor suck	HP:0040282	ORPHA:1934
2917	GRM7	HP:0002015	Dysphagia	HP:0040282	ORPHA:1934
2917	GRM7	HP:0002015	Dysphagia	4/11	OMIM:618922
2917	GRM7	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:1934
2917	GRM7	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1934
2917	GRM7	HP:0002079	Hypoplasia of the corpus callosum	7/8	OMIM:618922
2917	GRM7	HP:0100502	Decreased circulating vitamin B12 concentration	3/11	OMIM:618922
2917	GRM7	HP:0002059	Cerebral atrophy	8/10	OMIM:618922
2917	GRM7	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:1934
2917	GRM7	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:1934
2917	GRM7	HP:0002133	Status epilepticus	4/8	OMIM:618922
2917	GRM7	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:1934
2917	GRM7	HP:0003429	CNS hypomyelination	8/10	OMIM:618922
2917	GRM7	HP:0100704	Cerebral visual impairment	3/11	OMIM:618922
2917	GRM7	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:1934
2917	GRM7	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1934
2917	GRM7	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:1934
2917	GRM7	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1934
2917	GRM7	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:1934
2917	GRM7	HP:0002376	Developmental regression	HP:0040283	ORPHA:1934
2917	GRM7	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1934
2917	GRM7	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1934
2917	GRM7	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:1934
2917	GRM7	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1934
2917	GRM7	HP:0010819	Atonic seizure	HP:0040283	ORPHA:1934
2917	GRM7	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:1934
2917	GRM7	HP:0011344	Severe global developmental delay	11/11	OMIM:618922
2917	GRM7	HP:0004322	Short stature	5/11	OMIM:618922
2917	GRM7	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1934
2917	GRM7	HP:0000742	Self-mutilation	1/11	OMIM:618922
2917	GRM7	HP:0012706	Elevated brain choline level by MRS	1/1	OMIM:618922
2917	GRM7	HP:0012708	Reduced brain N-acetyl aspartate level by MRS	1/1	OMIM:618922
2917	GRM7	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1934
2917	GRM7	HP:0010174	Broad phalanx of the toes	HP:0040284	ORPHA:1934
2917	GRM7	HP:0011470	Nasogastric tube feeding in infancy	1/11	OMIM:618922
2917	GRM7	HP:0009125	Lipodystrophy	2/11	OMIM:618922
2917	GRM7	HP:0000871	Panhypopituitarism	1/11	OMIM:618922
2917	GRM7	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1934
2917	GRM7	HP:0000821	Hypothyroidism	1/11	OMIM:618922
2917	GRM7	HP:0000824	Decreased response to growth hormone stimulation test	1/11	OMIM:618922
2917	GRM7	HP:0009381	Short finger	HP:0040284	ORPHA:1934
2917	GRM7	HP:0000252	Microcephaly	HP:0040284	ORPHA:1934
2917	GRM7	HP:0000252	Microcephaly	8/8	OMIM:618922
2917	GRM7	HP:0001561	Polyhydramnios	4/11	OMIM:618922
2917	GRM7	HP:0001522	Death in infancy	4/11	OMIM:618922
2917	GRM7	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1934
2917	GRM7	HP:0001508	Failure to thrive	6/11	OMIM:618922
2917	GRM7	HP:0001508	Failure to thrive	HP:0040284	ORPHA:1934
2917	GRM7	HP:0002835	Aspiration	-	OMIM:618922
2917	GRM7	HP:0001500	Broad finger	HP:0040284	ORPHA:1934
2917	GRM7	HP:0000365	Hearing impairment	2/11	OMIM:618922
2917	GRM7	HP:0000340	Sloping forehead	HP:0040284	ORPHA:1934
2917	GRM7	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:1934
2917	GRM7	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	HP:0040283	ORPHA:1934
2917	GRM7	HP:0011182	Interictal epileptiform activity	7/8	OMIM:618922
2917	GRM7	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:1934
2917	GRM7	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:1934
2917	GRM7	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:1934
2917	GRM7	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:1934
2917	GRM7	HP:0000486	Strabismus	HP:0040284	ORPHA:1934
2917	GRM7	HP:0012469	Infantile spasms	HP:0040283	ORPHA:1934
2917	GRM7	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1934
2917	GRM7	HP:0012448	Delayed myelination	HP:0040283	ORPHA:1934
2917	GRM7	HP:0012554	Absent thumbnail	HP:0040284	ORPHA:1934
2934	GSN	HP:0002483	Bulbar signs	HP:0040284	ORPHA:85448
2934	GSN	HP:0001149	Lattice corneal dystrophy	HP:0040281	ORPHA:85448
2934	GSN	HP:0001149	Lattice corneal dystrophy	5/7	OMIM:105120
2934	GSN	HP:0001138	Optic neuropathy	1/7	OMIM:105120
2934	GSN	HP:0003774	Stage 5 chronic kidney disease	HP:0040284	ORPHA:85448
2934	GSN	HP:0003774	Stage 5 chronic kidney disease	2/2	OMIM:105120
2934	GSN	HP:0002411	Myokymia	HP:0040282	ORPHA:85448
2934	GSN	HP:0001278	Orthostatic hypotension	9/28	OMIM:105120
2934	GSN	HP:0001271	Polyneuropathy	HP:0040282	ORPHA:85448
2934	GSN	HP:0001271	Polyneuropathy	-	OMIM:105120
2934	GSN	HP:0001283	Bulbar palsy	-	OMIM:105120
2934	GSN	HP:0001251	Ataxia	HP:0040282	ORPHA:85448
2934	GSN	HP:0001260	Dysarthria	HP:0040283	ORPHA:85448
2934	GSN	HP:0002549	Deficit in phonologic short-term memory	HP:0040284	ORPHA:85448
2934	GSN	HP:0000083	Renal insufficiency	-	OMIM:105120
2934	GSN	HP:0000093	Proteinuria	HP:0040283	ORPHA:85448
2934	GSN	HP:0007488	Diffuse skin atrophy	HP:0040283	ORPHA:85448
2934	GSN	HP:0000006	Autosomal dominant inheritance	-	OMIM:105120
2934	GSN	HP:0012185	Constrictive median neuropathy	HP:0040282	ORPHA:85448
2934	GSN	HP:0001488	Bilateral ptosis	HP:0040281	ORPHA:85448
2934	GSN	HP:0032614	Renal glomerular amyloid deposition	2/2	OMIM:105120
2934	GSN	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:85448
2934	GSN	HP:0025408	Abnormal spleen morphology	HP:0040283	ORPHA:85448
2934	GSN	HP:0000100	Nephrotic syndrome	2/2	OMIM:105120
2934	GSN	HP:0002015	Dysphagia	HP:0040282	ORPHA:85448
2934	GSN	HP:0010535	Sleep apnea	HP:0040283	ORPHA:85448
2934	GSN	HP:0003581	Adult onset	7/7	OMIM:105120
2934	GSN	HP:0008404	Nail dystrophy	HP:0040284	ORPHA:85448
2934	GSN	HP:0010628	Facial palsy	HP:0040282	ORPHA:85448
2934	GSN	HP:0011947	Respiratory tract infection	HP:0040284	ORPHA:85448
2934	GSN	HP:0007067	Distal peripheral sensory neuropathy	HP:0040282	ORPHA:85448
2934	GSN	HP:0001005	Dermatological manifestations of systemic disorders	HP:0040281	ORPHA:85448
2934	GSN	HP:0001097	Keratoconjunctivitis sicca	HP:0040281	ORPHA:85448
2934	GSN	HP:0010749	Blepharochalasis	HP:0040283	ORPHA:85448
2934	GSN	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	HP:0040283	ORPHA:85448
2934	GSN	HP:0031861	Decreased heart rate variability	-	OMIM:105120
2934	GSN	HP:0011356	Regional abnormality of skin	HP:0040282	ORPHA:85448
2934	GSN	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:85448
2934	GSN	HP:0000716	Depression	HP:0040284	ORPHA:85448
2934	GSN	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:85448
2934	GSN	HP:0012804	Corneal ulceration	HP:0040282	ORPHA:85448
2934	GSN	HP:0003216	Generalized amyloid deposition	-	OMIM:105120
2934	GSN	HP:0030843	Cardiac amyloidosis	3/3	OMIM:105120
2934	GSN	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:85448
2934	GSN	HP:0000973	Cutis laxa	HP:0040282	ORPHA:85448
2934	GSN	HP:0000973	Cutis laxa	5/7	OMIM:105120
2934	GSN	HP:0000989	Pruritus	HP:0040283	ORPHA:85448
2934	GSN	HP:0000958	Dry skin	HP:0040281	ORPHA:85448
2934	GSN	HP:0000969	Edema	HP:0040282	ORPHA:85448
2934	GSN	HP:0034368	Urolithiasis	2/7	OMIM:105120
2934	GSN	HP:0008070	Sparse hair	HP:0040283	ORPHA:85448
2934	GSN	HP:0011675	Arrhythmia	HP:0040282	ORPHA:85448
2934	GSN	HP:0000217	Xerostomia	HP:0040282	ORPHA:85448
2934	GSN	HP:0000365	Hearing impairment	HP:0040282	ORPHA:85448
2934	GSN	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:85448
2934	GSN	HP:0001638	Cardiomyopathy	1/7	OMIM:105120
2934	GSN	HP:0012473	Tongue atrophy	HP:0040283	ORPHA:85448
2934	GSN	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:85448
2934	GSN	HP:0000518	Cataract	HP:0040282	ORPHA:85448
2934	GSN	HP:0000518	Cataract	2/7	OMIM:105120
2934	GSN	HP:0000505	Visual impairment	HP:0040282	ORPHA:85448
2934	GSN	HP:0000501	Glaucoma	HP:0040283	ORPHA:85448
2934	GSN	HP:0000597	Ophthalmoparesis	HP:0040283	ORPHA:85448
2936	GSR	HP:6000525	Reduced erythrocyte glutathione reductase activity	2/2	OMIM:618660
2936	GSR	HP:0000007	Autosomal recessive inheritance	-	OMIM:618660
2936	GSR	HP:0004814	Fava bean-induced hemolytic anemia	-	OMIM:618660
2936	GSR	HP:0002904	Hyperbilirubinemia	-	OMIM:618660
2936	GSR	HP:0000518	Cataract	3/3	OMIM:618660
2937	GSS	HP:0001285	Spastic tetraparesis	-	OMIM:266130
2937	GSS	HP:0001250	Seizure	-	OMIM:266130
2937	GSS	HP:0001251	Ataxia	-	OMIM:266130
2937	GSS	HP:0001249	Intellectual disability	2/4	OMIM:231900
2937	GSS	HP:0001249	Intellectual disability	-	OMIM:266130
2937	GSS	HP:0001260	Dysarthria	-	OMIM:266130
2937	GSS	HP:0001345	Psychotic mentation	-	OMIM:266130
2937	GSS	HP:0000007	Autosomal recessive inheritance	-	OMIM:231900
2937	GSS	HP:0000007	Autosomal recessive inheritance	-	OMIM:266130
2937	GSS	HP:0410132	Increased level of L-pyroglutamic acid in urine	-	OMIM:266130
2937	GSS	HP:0410132	Increased level of L-pyroglutamic acid in urine	4/4	OMIM:231900
2937	GSS	HP:0003343	Reduced glutathione synthetase level	-	OMIM:266130
2937	GSS	HP:0003343	Reduced glutathione synthetase level	6/6	OMIM:231900
2937	GSS	HP:0002080	Intention tremor	-	OMIM:266130
2937	GSS	HP:0001942	Metabolic acidosis	2/4	OMIM:231900
2937	GSS	HP:0001996	Chronic metabolic acidosis	-	OMIM:266130
2937	GSS	HP:0003258	Glyoxalase deficiency	-	OMIM:231900
2937	GSS	HP:0000580	Pigmentary retinopathy	-	OMIM:266130
2937	GSS	HP:0001878	Hemolytic anemia	4/4	OMIM:231900
2937	GSS	HP:0001878	Hemolytic anemia	-	OMIM:266130
2937	GSS	HP:0001875	Decreased total neutrophil count	-	OMIM:266130
2947	GSTM3	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
2947	GSTM3	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
2947	GSTM3	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
2947	GSTM3	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
2947	GSTM3	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
2947	GSTM3	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
2947	GSTM3	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
2947	GSTM3	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
2947	GSTM3	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
2947	GSTM3	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
2947	GSTM3	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
2947	GSTM3	HP:0002099	Asthma	HP:0040283	ORPHA:586
2947	GSTM3	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
2947	GSTM3	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
2947	GSTM3	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
2947	GSTM3	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
2947	GSTM3	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
2947	GSTM3	HP:0000739	Anxiety	HP:0040283	ORPHA:586
2947	GSTM3	HP:0000716	Depression	HP:0040283	ORPHA:586
2947	GSTM3	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
2947	GSTM3	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
2947	GSTM3	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
2947	GSTM3	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
2947	GSTM3	HP:0003251	Male infertility	HP:0040282	ORPHA:586
2947	GSTM3	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
2947	GSTM3	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
2947	GSTM3	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
2947	GSTM3	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
2947	GSTM3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
2947	GSTM3	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
2947	GSTM3	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
2947	GSTM3	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
2947	GSTM3	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
2947	GSTM3	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
2947	GSTM3	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
2954	GSTZ1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617596
2954	GSTZ1	HP:0001410	Decreased liver function	0/3	OMIM:617596
2956	MSH6	HP:0001123	Visual field defect	HP:0040283	ORPHA:144
2956	MSH6	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:144
2956	MSH6	HP:0001276	Hypertonia	HP:0040282	ORPHA:144
2956	MSH6	HP:0001288	Gait disturbance	HP:0040283	ORPHA:144
2956	MSH6	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:144
2956	MSH6	HP:0001250	Seizure	HP:0040282	ORPHA:144
2956	MSH6	HP:0001252	Hypotonia	HP:0040282	ORPHA:144
2956	MSH6	HP:0001260	Dysarthria	HP:0040283	ORPHA:144
2956	MSH6	HP:0002576	Intussusception	HP:0040283	OMIM:174900
2956	MSH6	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
2956	MSH6	HP:0001217	Clubbing	HP:0040283	OMIM:174900
2956	MSH6	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:144
2956	MSH6	HP:0003829	Typified by incomplete penetrance	-	OMIM:614350
2956	MSH6	HP:0001371	Flexion contracture	HP:0040283	ORPHA:144
2956	MSH6	HP:0007565	Multiple cafe-au-lait spots	6/6	OMIM:619097
2956	MSH6	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:144
2956	MSH6	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
2956	MSH6	HP:0000007	Autosomal recessive inheritance	-	OMIM:619097
2956	MSH6	HP:0002665	Lymphoma	1/2	OMIM:619097
2956	MSH6	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
2956	MSH6	HP:0000006	Autosomal dominant inheritance	-	OMIM:608089
2956	MSH6	HP:0000006	Autosomal dominant inheritance	-	OMIM:614350
2956	MSH6	HP:0012190	T-cell lymphoma	1/2	OMIM:619097
2956	MSH6	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:144
2956	MSH6	HP:0012174	Glioblastoma multiforme	1/2	OMIM:619097
2956	MSH6	HP:0012118	Laryngeal carcinoma	HP:0040283	ORPHA:144
2956	MSH6	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:144
2956	MSH6	HP:0012114	Endometrial carcinoma	-	OMIM:614350
2956	MSH6	HP:0012114	Endometrial carcinoma	-	OMIM:608089
2956	MSH6	HP:0001442	Typified by somatic mosaicism	-	OMIM:608089
2956	MSH6	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:144
2956	MSH6	HP:0002024	Malabsorption	HP:0040281	ORPHA:144
2956	MSH6	HP:0002019	Constipation	HP:0040281	ORPHA:144
2956	MSH6	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:144
2956	MSH6	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
2956	MSH6	HP:0002027	Abdominal pain	HP:0040281	ORPHA:144
2956	MSH6	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
2956	MSH6	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
2956	MSH6	HP:0002076	Migraine	HP:0040282	ORPHA:144
2956	MSH6	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:144
2956	MSH6	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:144
2956	MSH6	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:144
2956	MSH6	HP:0010526	Dysgraphia	HP:0040283	ORPHA:144
2956	MSH6	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:144
2956	MSH6	HP:0003401	Paresthesia	HP:0040283	ORPHA:144
2956	MSH6	HP:0009592	Astrocytoma	1/2	OMIM:619097
2956	MSH6	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:144
2956	MSH6	HP:0003581	Adult onset	-	OMIM:614350
2956	MSH6	HP:0009737	Lisch nodules	1/1	OMIM:619097
2956	MSH6	HP:0009720	Adenoma sebaceum	HP:0040281	ORPHA:144
2956	MSH6	HP:0009726	Renal neoplasm	HP:0040283	ORPHA:144
2956	MSH6	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:144
2956	MSH6	HP:0100743	Neoplasm of the rectum	-	OMIM:619097
2956	MSH6	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:144
2956	MSH6	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:144
2956	MSH6	HP:0002376	Developmental regression	HP:0040283	ORPHA:144
2956	MSH6	HP:0002354	Memory impairment	HP:0040283	ORPHA:144
2956	MSH6	HP:0100660	Dyskinesia	HP:0040283	ORPHA:144
2956	MSH6	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:144
2956	MSH6	HP:0100684	Salivary gland neoplasm	HP:0040283	ORPHA:144
2956	MSH6	HP:0100615	Ovarian neoplasm	HP:0040283	ORPHA:144
2956	MSH6	HP:0100615	Ovarian neoplasm	-	OMIM:614350
2956	MSH6	HP:0100613	Death in early adulthood	HP:0040282	ORPHA:144
2956	MSH6	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:144
2956	MSH6	HP:0001903	Anemia	HP:0040282	OMIM:174900
2956	MSH6	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:144
2956	MSH6	HP:0003003	Colon cancer	1/2	OMIM:619097
2956	MSH6	HP:0003003	Colon cancer	20%	OMIM:174900
2956	MSH6	HP:0003003	Colon cancer	5/12	OMIM:608456
2956	MSH6	HP:0003003	Colon cancer	HP:0040282	ORPHA:144
2956	MSH6	HP:0003073	Hypoalbuminemia	-	OMIM:174900
2956	MSH6	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
2956	MSH6	HP:0004377	Hematological neoplasm	HP:0040283	ORPHA:144
2956	MSH6	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:144
2956	MSH6	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:144
2956	MSH6	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:144
2956	MSH6	HP:0000738	Hallucinations	HP:0040283	ORPHA:144
2956	MSH6	HP:0000737	Irritability	HP:0040282	ORPHA:144
2956	MSH6	HP:0000739	Anxiety	HP:0040282	ORPHA:144
2956	MSH6	HP:0000716	Depression	HP:0040282	ORPHA:144
2956	MSH6	HP:0000708	Atypical behavior	HP:0040282	ORPHA:144
2956	MSH6	HP:0000997	Axillary freckling	2/2	OMIM:619097
2956	MSH6	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:144
2956	MSH6	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:144
2956	MSH6	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:144
2956	MSH6	HP:0002894	Neoplasm of the pancreas	-	OMIM:614350
2956	MSH6	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:144
2956	MSH6	HP:0001522	Death in infancy	HP:0040282	ORPHA:144
2956	MSH6	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
2956	MSH6	HP:0012378	Fatigue	HP:0040281	ORPHA:144
2956	MSH6	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
2956	MSH6	HP:0002900	Hypokalemia	-	OMIM:174900
2956	MSH6	HP:0006753	Neoplasm of the stomach	HP:0040282	ORPHA:144
2956	MSH6	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
2956	MSH6	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:144
2956	MSH6	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:614350
2956	MSH6	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
2956	MSH6	HP:0006758	Malignant genitourinary tract tumor	HP:0040283	ORPHA:144
2956	MSH6	HP:0001824	Weight loss	HP:0040281	ORPHA:144
2956	MSH6	HP:0000505	Visual impairment	HP:0040283	ORPHA:144
2961	GTF2E2	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:616943
2961	GTF2E2	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001197	Abnormality of prenatal development or birth	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0410219	Hypoplasia of mandible relative to maxilla	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0007266	Cerebral dysmyelination	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0002423	Long-tract sign	-	OMIM:616943
2961	GTF2E2	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001276	Hypertonia	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001270	Motor delay	-	OMIM:616943
2961	GTF2E2	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001260	Dysarthria	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001263	Global developmental delay	2/2	OMIM:616943
2961	GTF2E2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001257	Spasticity	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0002562	Low-set nipples	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0007381	Congenital exfoliative erythroderma	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001217	Clubbing	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001373	Joint dislocation	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0008883	Mild intrauterine growth retardation	-	OMIM:616943
2961	GTF2E2	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0007485	Absence of subcutaneous fat	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0002673	Coxa valga	HP:0040283	OMIM:616943
2961	GTF2E2	HP:0001338	Partial agenesis of the corpus callosum	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616943
2961	GTF2E2	HP:0007633	Bilateral microphthalmos	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0002705	High, narrow palate	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0007587	Numerous pigmented freckles	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000133	Gonadal dysgenesis	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0002750	Delayed skeletal maturation	1/2	OMIM:616943
2961	GTF2E2	HP:0002719	Recurrent infections	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0002080	Intention tremor	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0002066	Gait ataxia	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0002136	Broad-based gait	HP:0040283	OMIM:616943
2961	GTF2E2	HP:0002197	Generalized-onset seizure	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0010551	Paraplegia/paraparesis	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0002217	Slow-growing hair	-	OMIM:616943
2961	GTF2E2	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0002299	Brittle hair	2/2	OMIM:616943
2961	GTF2E2	HP:0002299	Brittle hair	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0002293	Alopecia of scalp	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0007034	Generalized hyperreflexia	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0008391	Dystrophic fingernails	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0008386	Aplasia/Hypoplasia of the nails	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0002342	Intellectual disability, moderate	-	OMIM:616943
2961	GTF2E2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0025066	Decreased mean corpuscular volume	2/2	OMIM:616943
2961	GTF2E2	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:4000007	Bronchoconstriction	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000639	Nystagmus	HP:0040283	OMIM:616943
2961	GTF2E2	HP:0000639	Nystagmus	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000613	Photophobia	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000608	Macular degeneration	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000601	Hypotelorism	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001903	Anemia	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000656	Ectropion	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000670	Carious teeth	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0004322	Short stature	2/2	OMIM:616943
2961	GTF2E2	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0003079	Defective DNA repair after ultraviolet radiation damage	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0004440	Coronal craniosynostosis	-	OMIM:616943
2961	GTF2E2	HP:0003139	Panhypogammaglobulinemia	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0045055	Tiger tail banding	2/2	OMIM:616943
2961	GTF2E2	HP:0045055	Tiger tail banding	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0045048	Increased HbA2 hemoglobin	2/2	OMIM:616943
2961	GTF2E2	HP:0100275	Diffuse cerebellar atrophy	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000992	Cutaneous photosensitivity	0/2	OMIM:616943
2961	GTF2E2	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000958	Dry skin	2/2	OMIM:616943
2961	GTF2E2	HP:0000958	Dry skin	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000938	Osteopenia	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0008064	Ichthyosis	2/2	OMIM:616943
2961	GTF2E2	HP:0008064	Ichthyosis	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000286	Epicanthus	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000280	Coarse facial features	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000278	Retrognathia	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0025548	Increased mean corpuscular hemoglobin concentration	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001598	Concave nail	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000252	Microcephaly	2/2	OMIM:616943
2961	GTF2E2	HP:0000252	Microcephaly	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001518	Small for gestational age	-	OMIM:616943
2961	GTF2E2	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0006538	Recurrent bronchopulmonary infections	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001618	Dysphonia	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0002942	Thoracic kyphosis	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0011001	Increased bone mineral density	0/2	OMIM:616943
2961	GTF2E2	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000320	Bird-like facies	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000483	Astigmatism	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000486	Strabismus	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000482	Microcornea	HP:0040283	OMIM:616943
2961	GTF2E2	HP:0000482	Microcornea	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000411	Protruding ear	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001761	Pes cavus	HP:0040283	OMIM:616943
2961	GTF2E2	HP:0000519	Developmental cataract	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001809	Split nail	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001808	Fragile nails	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001807	Ridged nail	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000565	Esotropia	-	OMIM:616943
2961	GTF2E2	HP:0000565	Esotropia	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000546	Retinal degeneration	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0000545	Myopia	HP:0040283	ORPHA:33364
2961	GTF2E2	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33364
2969	GTF2I	HP:0001181	Adducted thumb	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:904
2969	GTF2I	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001297	Stroke	HP:0040282	ORPHA:904
2969	GTF2I	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:904
2969	GTF2I	HP:0001288	Gait disturbance	HP:0040281	ORPHA:904
2969	GTF2I	HP:0001252	Hypotonia	HP:0040282	ORPHA:904
2969	GTF2I	HP:0001251	Ataxia	HP:0040281	ORPHA:904
2969	GTF2I	HP:0001249	Intellectual disability	HP:0040281	ORPHA:904
2969	GTF2I	HP:0001260	Dysarthria	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001257	Spasticity	HP:0040282	ORPHA:904
2969	GTF2I	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:904
2969	GTF2I	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:904
2969	GTF2I	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:904
2969	GTF2I	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040283	ORPHA:904
2969	GTF2I	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000093	Proteinuria	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000075	Renal duplication	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001387	Joint stiffness	HP:0040282	ORPHA:904
2969	GTF2I	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000014	Abnormality of the bladder	HP:0040282	ORPHA:904
2969	GTF2I	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:904
2969	GTF2I	HP:0001361	Nystagmus-induced head nodding	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000025	Functional abnormality of male internal genitalia	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:904
2969	GTF2I	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:904
2969	GTF2I	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001337	Tremor	HP:0040281	ORPHA:904
2969	GTF2I	HP:0001310	Dysmetria	HP:0040281	ORPHA:904
2969	GTF2I	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:904
2969	GTF2I	HP:0002650	Scoliosis	HP:0040283	ORPHA:904
2969	GTF2I	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:904
2969	GTF2I	HP:0002623	Overriding aorta	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:904
2969	GTF2I	HP:0000158	Macroglossia	HP:0040281	ORPHA:904
2969	GTF2I	HP:0000154	Wide mouth	HP:0040281	ORPHA:904
2969	GTF2I	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000125	Pelvic kidney	HP:0040282	ORPHA:904
2969	GTF2I	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:904
2969	GTF2I	HP:0002024	Malabsorption	HP:0040283	ORPHA:904
2969	GTF2I	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:904
2969	GTF2I	HP:0002019	Constipation	HP:0040282	ORPHA:904
2969	GTF2I	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:904
2969	GTF2I	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:904
2969	GTF2I	HP:0002027	Abdominal pain	HP:0040281	ORPHA:904
2969	GTF2I	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:904
2969	GTF2I	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:904
2969	GTF2I	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:904
2969	GTF2I	HP:0100539	Periorbital edema	HP:0040281	ORPHA:904
2969	GTF2I	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:904
2969	GTF2I	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:904
2969	GTF2I	HP:0002141	Gait imbalance	HP:0040281	ORPHA:904
2969	GTF2I	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:904
2969	GTF2I	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:904
2969	GTF2I	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:904
2969	GTF2I	HP:0002183	Phonophobia	HP:0040281	ORPHA:904
2969	GTF2I	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:904
2969	GTF2I	HP:0010526	Dysgraphia	HP:0040281	ORPHA:904
2969	GTF2I	HP:0002253	Colonic diverticula	HP:0040282	ORPHA:904
2969	GTF2I	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:904
2969	GTF2I	HP:0100785	Insomnia	HP:0040282	ORPHA:904
2969	GTF2I	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:904
2969	GTF2I	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:904
2969	GTF2I	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:904
2969	GTF2I	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:904
2969	GTF2I	HP:0002376	Developmental regression	HP:0040283	ORPHA:904
2969	GTF2I	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:904
2969	GTF2I	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:904
2969	GTF2I	HP:0010807	Open bite	HP:0040281	ORPHA:904
2969	GTF2I	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:904
2969	GTF2I	HP:0008499	High hypermetropia	HP:0040281	ORPHA:904
2969	GTF2I	HP:0010780	Hyperacusis	HP:0040281	ORPHA:904
2969	GTF2I	HP:0002308	Chiari malformation	HP:0040283	ORPHA:904
2969	GTF2I	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:904
2969	GTF2I	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:904
2969	GTF2I	HP:0004295	Abnormal gastric mucosa morphology	HP:0040283	ORPHA:904
2969	GTF2I	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000635	Blue irides	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000691	Microdontia	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000670	Carious teeth	HP:0040283	ORPHA:904
2969	GTF2I	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:904
2969	GTF2I	HP:0000668	Hypodontia	HP:0040282	ORPHA:904
2969	GTF2I	HP:0004322	Short stature	HP:0040281	ORPHA:904
2969	GTF2I	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:904
2969	GTF2I	HP:0004305	Involuntary movements	HP:0040281	ORPHA:904
2969	GTF2I	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:904
2969	GTF2I	HP:0004381	Supravalvular aortic stenosis	HP:0040282	ORPHA:904
2969	GTF2I	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:904
2969	GTF2I	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:904
2969	GTF2I	HP:0100025	Overfriendliness	HP:0040281	ORPHA:904
2969	GTF2I	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000739	Anxiety	HP:0040281	ORPHA:904
2969	GTF2I	HP:0000716	Depression	HP:0040281	ORPHA:904
2969	GTF2I	HP:0000717	Autism	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:904
2969	GTF2I	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:904
2969	GTF2I	HP:0004428	Elfin facies	HP:0040281	ORPHA:904
2969	GTF2I	HP:0003198	Myopathy	HP:0040283	ORPHA:904
2969	GTF2I	HP:0003196	Short nose	HP:0040281	ORPHA:904
2969	GTF2I	HP:0000826	Precocious puberty	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000822	Hypertension	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:904
2969	GTF2I	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:904
2969	GTF2I	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000960	Sacral dimple	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000939	Osteoporosis	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000938	Osteopenia	HP:0040283	ORPHA:904
2969	GTF2I	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:904
2969	GTF2I	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:904
2969	GTF2I	HP:0007720	Flat cornea	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000286	Epicanthus	HP:0040281	ORPHA:904
2969	GTF2I	HP:0000280	Coarse facial features	HP:0040281	ORPHA:904
2969	GTF2I	HP:0000275	Narrow face	HP:0040281	ORPHA:904
2969	GTF2I	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:904
2969	GTF2I	HP:0002829	Arthralgia	HP:0040282	ORPHA:904
2969	GTF2I	HP:0002808	Kyphosis	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000252	Microcephaly	HP:0040282	ORPHA:904
2969	GTF2I	HP:0001582	Redundant skin	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:904
2969	GTF2I	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:904
2969	GTF2I	HP:0002857	Genu valgum	HP:0040282	ORPHA:904
2969	GTF2I	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001513	Obesity	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:904
2969	GTF2I	HP:0001609	Hoarse voice	HP:0040281	ORPHA:904
2969	GTF2I	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:904
2969	GTF2I	HP:0001618	Dysphonia	HP:0040283	ORPHA:904
2969	GTF2I	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:904
2969	GTF2I	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000343	Long philtrum	HP:0040281	ORPHA:904
2969	GTF2I	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000337	Broad forehead	HP:0040281	ORPHA:904
2969	GTF2I	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000348	High forehead	HP:0040281	ORPHA:904
2969	GTF2I	HP:0000347	Micrognathia	HP:0040281	ORPHA:904
2969	GTF2I	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:904
2969	GTF2I	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:904
2969	GTF2I	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:904
2969	GTF2I	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:904
2969	GTF2I	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000307	Pointed chin	HP:0040281	ORPHA:904
2969	GTF2I	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:904
2969	GTF2I	HP:0007957	Corneal opacity	HP:0040283	ORPHA:904
2969	GTF2I	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000400	Macrotia	HP:0040281	ORPHA:904
2969	GTF2I	HP:0000486	Strabismus	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000485	Megalocornea	HP:0040283	ORPHA:904
2969	GTF2I	HP:0000464	Abnormality of the neck	HP:0040281	ORPHA:904
2969	GTF2I	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:904
2969	GTF2I	HP:0001763	Pes planus	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000411	Protruding ear	HP:0040281	ORPHA:904
2969	GTF2I	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:904
2969	GTF2I	HP:0000518	Cataract	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001822	Hallux valgus	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000505	Visual impairment	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000501	Glaucoma	HP:0040283	ORPHA:904
2969	GTF2I	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:904
2969	GTF2I	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:904
2969	GTF2I	HP:0000545	Myopia	HP:0040283	ORPHA:904
2972	BRF1	HP:0001182	Tapered finger	6/6	OMIM:616202
2972	BRF1	HP:0001182	Tapered finger	HP:0040283	ORPHA:444072
2972	BRF1	HP:0002465	Poor speech	HP:0040282	ORPHA:444072
2972	BRF1	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:444072
2972	BRF1	HP:0002418	Abnormal midbrain morphology	HP:0040283	ORPHA:444072
2972	BRF1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2972	BRF1	HP:0001293	Cranial nerve compression	-	OMIM:131300
2972	BRF1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:444072
2972	BRF1	HP:0001252	Hypotonia	2/7	OMIM:615777
2972	BRF1	HP:0001249	Intellectual disability	6/6	OMIM:616202
2972	BRF1	HP:0001249	Intellectual disability	5/7	OMIM:615777
2972	BRF1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:444072
2972	BRF1	HP:0001263	Global developmental delay	6/6	OMIM:616202
2972	BRF1	HP:0001263	Global developmental delay	-	OMIM:615777
2972	BRF1	HP:0006118	Shortening of all distal phalanges of the fingers	1/6	OMIM:616202
2972	BRF1	HP:0002515	Waddling gait	54/102	OMIM:131300
2972	BRF1	HP:0002509	Limb hypertonia	HP:0040283	ORPHA:444072
2972	BRF1	HP:0000074	Ureteropelvic junction obstruction	HP:0040283	ORPHA:444072
2972	BRF1	HP:0001382	Joint hypermobility	-	OMIM:615777
2972	BRF1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:444072
2972	BRF1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2972	BRF1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:444072
2972	BRF1	HP:0000028	Cryptorchidism	1/3	OMIM:616202
2972	BRF1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2972	BRF1	HP:0033725	Thin corpus callosum	4/6	OMIM:616202
2972	BRF1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2972	BRF1	HP:0001324	Muscle weakness	40/96	OMIM:131300
2972	BRF1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2972	BRF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616202
2972	BRF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2972	BRF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2972	BRF1	HP:0002650	Scoliosis	HP:0040281	ORPHA:444072
2972	BRF1	HP:0002650	Scoliosis	6/6	OMIM:616202
2972	BRF1	HP:0002650	Scoliosis	12/14	OMIM:131300
2972	BRF1	HP:0001321	Cerebellar hypoplasia	6/6	OMIM:616202
2972	BRF1	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:444072
2972	BRF1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2972	BRF1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2972	BRF1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2972	BRF1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2972	BRF1	HP:0000175	Cleft palate	2/7	OMIM:615777
2972	BRF1	HP:0012110	Hypoplasia of the pons	2/6	OMIM:616202
2972	BRF1	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:444072
2972	BRF1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:444072
2972	BRF1	HP:0002750	Delayed skeletal maturation	4/6	OMIM:616202
2972	BRF1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:444072
2972	BRF1	HP:0011800	Midface retrusion	HP:0040283	ORPHA:444072
2972	BRF1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:444072
2972	BRF1	HP:0003388	Easy fatigability	36/76	OMIM:131300
2972	BRF1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2972	BRF1	HP:0002119	Ventriculomegaly	4/6	OMIM:616202
2972	BRF1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:444072
2972	BRF1	HP:0003593	Infantile onset	-	OMIM:616202
2972	BRF1	HP:0003577	Congenital onset	6/6	OMIM:616202
2972	BRF1	HP:0002213	Fine hair	6/6	OMIM:616202
2972	BRF1	HP:0002213	Fine hair	HP:0040281	ORPHA:444072
2972	BRF1	HP:0002280	Enlarged cisterna magna	5/6	OMIM:616202
2972	BRF1	HP:0002280	Enlarged cisterna magna	HP:0040282	ORPHA:444072
2972	BRF1	HP:0008366	Foot joint contracture	HP:0040283	ORPHA:444072
2972	BRF1	HP:0003510	Severe short stature	HP:0040283	ORPHA:444072
2972	BRF1	HP:0003510	Severe short stature	7/7	OMIM:615777
2972	BRF1	HP:0007068	Inferior cerebellar vermis hypoplasia	HP:0040283	ORPHA:444072
2972	BRF1	HP:0002365	Hypoplasia of the brainstem	HP:0040283	ORPHA:444072
2972	BRF1	HP:0002315	Headache	-	OMIM:131300
2972	BRF1	HP:0004976	Knee dislocation	6/7	OMIM:615777
2972	BRF1	HP:0009803	Short phalanx of finger	-	OMIM:615777
2972	BRF1	HP:0009763	Limb pain	63/92	OMIM:131300
2972	BRF1	HP:0004970	Ascending tubular aorta aneurysm	HP:0040283	ORPHA:444072
2972	BRF1	HP:0003621	Juvenile onset	-	OMIM:131300
2972	BRF1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2972	BRF1	HP:0004209	Clinodactyly of the 5th finger	1/6	OMIM:616202
2972	BRF1	HP:0009085	Alveolar ridge overgrowth	HP:0040282	ORPHA:444072
2972	BRF1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2972	BRF1	HP:6001056	Out-toeing	-	OMIM:131300
2972	BRF1	HP:0000651	Diplopia	-	OMIM:131300
2972	BRF1	HP:0001956	Truncal obesity	2/7	OMIM:615777
2972	BRF1	HP:0001903	Anemia	HP:0040283	OMIM:131300
2972	BRF1	HP:0010049	Short metacarpal	-	OMIM:615777
2972	BRF1	HP:0000679	Taurodontia	6/6	OMIM:616202
2972	BRF1	HP:0000679	Taurodontia	HP:0040281	ORPHA:444072
2972	BRF1	HP:0000678	Dental crowding	-	OMIM:615777
2972	BRF1	HP:0000675	Macrodontia of permanent maxillary central incisor	HP:0040281	ORPHA:444072
2972	BRF1	HP:0000675	Macrodontia of permanent maxillary central incisor	6/6	OMIM:616202
2972	BRF1	HP:0000689	Dental malocclusion	6/6	OMIM:616202
2972	BRF1	HP:0000689	Dental malocclusion	HP:0040281	ORPHA:444072
2972	BRF1	HP:0000670	Carious teeth	-	OMIM:131300
2972	BRF1	HP:0011304	Broad thumb	2/7	OMIM:615777
2972	BRF1	HP:0000668	Hypodontia	-	OMIM:615777
2972	BRF1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:444072
2972	BRF1	HP:0000664	Synophrys	-	OMIM:615777
2972	BRF1	HP:0004322	Short stature	6/6	OMIM:616202
2972	BRF1	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:444072
2972	BRF1	HP:0004396	Poor appetite	-	OMIM:131300
2972	BRF1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2972	BRF1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2972	BRF1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2972	BRF1	HP:0003026	Short long bone	7/7	OMIM:615777
2972	BRF1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2972	BRF1	HP:0011406	Infancy onset short-trunk short stature	HP:0040283	ORPHA:444072
2972	BRF1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2972	BRF1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2972	BRF1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2972	BRF1	HP:0000750	Delayed speech and language development	6/6	OMIM:616202
2972	BRF1	HP:0000750	Delayed speech and language development	-	OMIM:615777
2972	BRF1	HP:0000718	Aggressive behavior	2/6	OMIM:616202
2972	BRF1	HP:0011461	Fetal onset	7/7	OMIM:615777
2972	BRF1	HP:0000774	Narrow chest	2/7	OMIM:615777
2972	BRF1	HP:0003100	Slender long bone	6/6	OMIM:616202
2972	BRF1	HP:0003100	Slender long bone	HP:0040283	ORPHA:444072
2972	BRF1	HP:0034259	Hypoplasia of the midbrain	2/6	OMIM:616202
2972	BRF1	HP:0000926	Platyspondyly	1/7	OMIM:615777
2972	BRF1	HP:0003180	Flat acetabular roof	-	OMIM:615777
2972	BRF1	HP:0004482	Relative macrocephaly	-	OMIM:615777
2972	BRF1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2972	BRF1	HP:0000823	Delayed puberty	-	OMIM:131300
2972	BRF1	HP:0000894	Short clavicles	-	OMIM:615777
2972	BRF1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2972	BRF1	HP:0045075	Sparse eyebrow	6/6	OMIM:616202
2972	BRF1	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:444072
2972	BRF1	HP:0000954	Single transverse palmar crease	2/6	OMIM:616202
2972	BRF1	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:444072
2972	BRF1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2972	BRF1	HP:0008070	Sparse hair	HP:0040281	ORPHA:444072
2972	BRF1	HP:0000286	Epicanthus	1/7	OMIM:615777
2972	BRF1	HP:0000280	Coarse facial features	2/7	OMIM:615777
2972	BRF1	HP:0005135	Abnormal T-wave	HP:0040283	ORPHA:444072
2972	BRF1	HP:0006461	Proximal femoral epiphysiolysis	1/6	OMIM:616202
2972	BRF1	HP:0002827	Hip dislocation	3/7	OMIM:615777
2972	BRF1	HP:0000252	Microcephaly	HP:0040281	ORPHA:444072
2972	BRF1	HP:0000252	Microcephaly	6/6	OMIM:616202
2972	BRF1	HP:0000252	Microcephaly	-	OMIM:615777
2972	BRF1	HP:0002857	Genu valgum	1/6	OMIM:616202
2972	BRF1	HP:0002857	Genu valgum	-	OMIM:131300
2972	BRF1	HP:0001533	Slender build	-	OMIM:131300
2972	BRF1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:444072
2972	BRF1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2972	BRF1	HP:0007835	S-shaped palpebral fissures	HP:0040283	ORPHA:444072
2972	BRF1	HP:0006511	Laryngeal stridor	2/6	OMIM:616202
2972	BRF1	HP:0006511	Laryngeal stridor	HP:0040282	ORPHA:444072
2972	BRF1	HP:0007807	Optic nerve compression	-	OMIM:131300
2972	BRF1	HP:0000384	Preauricular skin tag	1/6	OMIM:616202
2972	BRF1	HP:0012368	Flat face	7/7	OMIM:615777
2972	BRF1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2972	BRF1	HP:0001601	Laryngomalacia	1/6	OMIM:616202
2972	BRF1	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:444072
2972	BRF1	HP:0000365	Hearing impairment	10/67	OMIM:131300
2972	BRF1	HP:0000369	Low-set ears	HP:0040283	ORPHA:444072
2972	BRF1	HP:0000369	Low-set ears	6/6	OMIM:616202
2972	BRF1	HP:0000343	Long philtrum	HP:0040283	ORPHA:444072
2972	BRF1	HP:0000343	Long philtrum	1/7	OMIM:615777
2972	BRF1	HP:0011001	Increased bone mineral density	-	OMIM:131300
2972	BRF1	HP:0000347	Micrognathia	HP:0040283	ORPHA:444072
2972	BRF1	HP:0000311	Round face	2/7	OMIM:615777
2972	BRF1	HP:0001629	Ventricular septal defect	1/6	OMIM:616202
2972	BRF1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:444072
2972	BRF1	HP:0002970	Genu varum	-	OMIM:615777
2972	BRF1	HP:0000303	Mandibular prognathia	-	OMIM:131300
2972	BRF1	HP:0001634	Mitral valve prolapse	1/6	OMIM:616202
2972	BRF1	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:444072
2972	BRF1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2972	BRF1	HP:0000486	Strabismus	HP:0040283	ORPHA:444072
2972	BRF1	HP:0000486	Strabismus	1/6	OMIM:616202
2972	BRF1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:444072
2972	BRF1	HP:0000470	Short neck	6/6	OMIM:616202
2972	BRF1	HP:0000470	Short neck	HP:0040283	ORPHA:444072
2972	BRF1	HP:0000470	Short neck	1/7	OMIM:615777
2972	BRF1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2972	BRF1	HP:0001763	Pes planus	1/6	OMIM:616202
2972	BRF1	HP:0001763	Pes planus	1/7	OMIM:615777
2972	BRF1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:444072
2972	BRF1	HP:0000518	Cataract	1/6	OMIM:616202
2972	BRF1	HP:0000518	Cataract	HP:0040283	ORPHA:444072
2972	BRF1	HP:0001840	Metatarsus adductus	-	OMIM:615777
2972	BRF1	HP:0000520	Proptosis	2/4	OMIM:131300
2972	BRF1	HP:0000520	Proptosis	7/7	OMIM:615777
2972	BRF1	HP:0000592	Blue sclerae	2/7	OMIM:615777
2972	BRF1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2972	BRF1	HP:0012514	Lower limb pain	4/4	OMIM:131300
2978	GUCA1A	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
2978	GUCA1A	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
2978	GUCA1A	HP:0007401	Macular atrophy	HP:0040282	ORPHA:75377
2978	GUCA1A	HP:0007401	Macular atrophy	HP:0040283	OMIM:602093
2978	GUCA1A	HP:0031152	Full-thickness macular hole	HP:0040281	ORPHA:75377
2978	GUCA1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
2978	GUCA1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
2978	GUCA1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:602093
2978	GUCA1A	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
2978	GUCA1A	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
2978	GUCA1A	HP:0007663	Reduced visual acuity	-	OMIM:602093
2978	GUCA1A	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:75377
2978	GUCA1A	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
2978	GUCA1A	HP:0007641	Dyschromatopsia	HP:0040284	ORPHA:75377
2978	GUCA1A	HP:0003621	Juvenile onset	8/19	OMIM:180100
2978	GUCA1A	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
2978	GUCA1A	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
2978	GUCA1A	HP:0000613	Photophobia	HP:0040281	ORPHA:1871
2978	GUCA1A	HP:0000613	Photophobia	-	OMIM:602093
2978	GUCA1A	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
2978	GUCA1A	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
2978	GUCA1A	HP:0030491	Choriocapillaris atrophy	HP:0040283	ORPHA:75377
2978	GUCA1A	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
2978	GUCA1A	HP:0000662	Nyctalopia	26/28	OMIM:180100
2978	GUCA1A	HP:0000662	Nyctalopia	HP:0040284	ORPHA:75377
2978	GUCA1A	HP:0030615	Foveal photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:75377
2978	GUCA1A	HP:0030629	Perifoveal ring of hyperautofluorescence	HP:0040283	ORPHA:75377
2978	GUCA1A	HP:0030631	Hyperautofluorescent macular lesion	HP:0040281	ORPHA:75377
2978	GUCA1A	HP:0011463	Childhood onset	3/19	OMIM:180100
2978	GUCA1A	HP:0011462	Young adult onset	8/19	OMIM:180100
2978	GUCA1A	HP:0011510	Drusen	HP:0040283	ORPHA:75377
2978	GUCA1A	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
2978	GUCA1A	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1871
2978	GUCA1A	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
2978	GUCA1A	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
2978	GUCA1A	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
2978	GUCA1A	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
2978	GUCA1A	HP:0007814	Retinal pigment epithelial mottling	HP:0040283	ORPHA:75377
2978	GUCA1A	HP:0007894	Hypopigmentation of the fundus	HP:0040282	ORPHA:75377
2978	GUCA1A	HP:0007924	Slow decrease in visual acuity	HP:0040282	ORPHA:75377
2978	GUCA1A	HP:0007980	Absent retinal pigment epithelium	HP:0040283	ORPHA:75377
2978	GUCA1A	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
2978	GUCA1A	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
2978	GUCA1A	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:1871
2978	GUCA1A	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
2978	GUCA1A	HP:0000529	Progressive visual loss	-	OMIM:602093
2978	GUCA1A	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
2978	GUCA1A	HP:0000505	Visual impairment	HP:0040281	ORPHA:1871
2978	GUCA1A	HP:0000505	Visual impairment	HP:0040282	ORPHA:75377
2978	GUCA1A	HP:0000575	Scotoma	5/18	OMIM:180100
2978	GUCA1A	HP:0000572	Visual loss	HP:0040282	ORPHA:75377
2978	GUCA1A	HP:0000533	Chorioretinal atrophy	HP:0040283	ORPHA:75377
2978	GUCA1A	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
2978	GUCA1A	HP:0000551	Color vision defect	HP:0040281	ORPHA:1871
2978	GUCA1A	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:602093
2978	GUCA1A	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
2978	GUCA1A	HP:0000543	Optic disc pallor	1/1	OMIM:180100
2978	GUCA1A	HP:0000545	Myopia	-	OMIM:180100
2979	GUCA1B	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
2979	GUCA1B	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
2979	GUCA1B	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
2979	GUCA1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
2979	GUCA1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:613827
2979	GUCA1B	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
2979	GUCA1B	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
2979	GUCA1B	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
2979	GUCA1B	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
2979	GUCA1B	HP:0003621	Juvenile onset	8/19	OMIM:180100
2979	GUCA1B	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
2979	GUCA1B	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
2979	GUCA1B	HP:0000618	Blindness	HP:0040281	ORPHA:791
2979	GUCA1B	HP:0000613	Photophobia	HP:0040281	ORPHA:791
2979	GUCA1B	HP:0000608	Macular degeneration	-	OMIM:613827
2979	GUCA1B	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
2979	GUCA1B	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
2979	GUCA1B	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
2979	GUCA1B	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
2979	GUCA1B	HP:0000662	Nyctalopia	26/28	OMIM:180100
2979	GUCA1B	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
2979	GUCA1B	HP:0011463	Childhood onset	3/19	OMIM:180100
2979	GUCA1B	HP:0011462	Young adult onset	8/19	OMIM:180100
2979	GUCA1B	HP:0030786	Photopsia	HP:0040283	ORPHA:791
2979	GUCA1B	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
2979	GUCA1B	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
2979	GUCA1B	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
2979	GUCA1B	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
2979	GUCA1B	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
2979	GUCA1B	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
2979	GUCA1B	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
2979	GUCA1B	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
2979	GUCA1B	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
2979	GUCA1B	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
2979	GUCA1B	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
2979	GUCA1B	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
2979	GUCA1B	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
2979	GUCA1B	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
2979	GUCA1B	HP:0000510	Rod-cone dystrophy	-	OMIM:613827
2979	GUCA1B	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
2979	GUCA1B	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
2979	GUCA1B	HP:0000505	Visual impairment	-	OMIM:613827
2979	GUCA1B	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
2979	GUCA1B	HP:0000575	Scotoma	5/18	OMIM:180100
2979	GUCA1B	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
2979	GUCA1B	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
2979	GUCA1B	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
2979	GUCA1B	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
2979	GUCA1B	HP:0000543	Optic disc pallor	1/1	OMIM:180100
2979	GUCA1B	HP:0000545	Myopia	-	OMIM:180100
2982	GUCY1A1	HP:0033505	Livedo reticularis	1/4	OMIM:615750
2982	GUCY1A1	HP:0001297	Stroke	HP:0040280	ORPHA:401945
2982	GUCY1A1	HP:0001269	Hemiparesis	4/9	OMIM:615750
2982	GUCY1A1	HP:0002571	Achalasia	9/9	OMIM:615750
2982	GUCY1A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615750
2982	GUCY1A1	HP:0002015	Dysphagia	1/9	OMIM:615750
2982	GUCY1A1	HP:0002140	Ischemic stroke	4/9	OMIM:615750
2982	GUCY1A1	HP:0002197	Generalized-onset seizure	1/9	OMIM:615750
2982	GUCY1A1	HP:0011834	Moyamoya phenomenon	HP:0040282	ORPHA:401945
2982	GUCY1A1	HP:0011834	Moyamoya phenomenon	3/5	OMIM:615750
2982	GUCY1A1	HP:0003593	Infantile onset	2/9	OMIM:615750
2982	GUCY1A1	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:401945
2982	GUCY1A1	HP:0003623	Neonatal onset	2/9	OMIM:615750
2982	GUCY1A1	HP:0000802	Impotence	-	OMIM:615750
2982	GUCY1A1	HP:0011463	Childhood onset	5/9	OMIM:615750
2982	GUCY1A1	HP:0000822	Hypertension	4/4	OMIM:615750
2982	GUCY1A1	HP:0000822	Hypertension	HP:0040282	ORPHA:401945
2982	GUCY1A1	HP:0030880	Raynaud phenomenon	2/4	OMIM:615750
2982	GUCY1A1	HP:0030880	Raynaud phenomenon	HP:0040283	ORPHA:401945
2982	GUCY1A1	HP:0000965	Cutis marmorata	HP:0040283	OMIM:615750
2982	GUCY1A1	HP:0000965	Cutis marmorata	HP:0040283	ORPHA:401945
2982	GUCY1A1	HP:0030402	Abnormal platelet aggregation	HP:0040283	ORPHA:401945
2982	GUCY1A1	HP:0001873	Thrombocytopenia	1/4	OMIM:615750
2982	GUCY1A1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:401945
2984	GUCY2C	HP:0000007	Autosomal recessive inheritance	-	OMIM:614665
2984	GUCY2C	HP:0000006	Autosomal dominant inheritance	-	OMIM:614616
2984	GUCY2C	HP:0002027	Abdominal pain	-	OMIM:614616
2984	GUCY2C	HP:0002028	Chronic diarrhea	2/15	OMIM:614665
2984	GUCY2C	HP:0002028	Chronic diarrhea	32/32	OMIM:614616
2984	GUCY2C	HP:0100502	Decreased circulating vitamin B12 concentration	6/32	OMIM:614616
2984	GUCY2C	HP:0003593	Infantile onset	-	OMIM:614616
2984	GUCY2C	HP:0003577	Congenital onset	11/11	OMIM:614665
2984	GUCY2C	HP:6000319	Meteorism	27/28	OMIM:614616
2984	GUCY2C	HP:0004388	Microcolon	-	OMIM:614665
2984	GUCY2C	HP:0004401	Meconium ileus	11/15	OMIM:614665
2984	GUCY2C	HP:0040128	Abnormal sweat electrolytes	0/15	OMIM:614665
2984	GUCY2C	HP:0100280	Crohn's disease	4/32	OMIM:614616
2990	GUSB	HP:0002465	Poor speech	-	OMIM:253220
2990	GUSB	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
2990	GUSB	HP:0034859	Reduced tissue beta-glucuronidase activity	1/1	OMIM:253220
2990	GUSB	HP:0001293	Cranial nerve compression	-	OMIM:131300
2990	GUSB	HP:0001270	Motor delay	1/1	OMIM:253220
2990	GUSB	HP:0001252	Hypotonia	HP:0040282	ORPHA:584
2990	GUSB	HP:0001252	Hypotonia	2/7	OMIM:615777
2990	GUSB	HP:0001249	Intellectual disability	25/30	OMIM:253220
2990	GUSB	HP:0001249	Intellectual disability	HP:0040281	ORPHA:584
2990	GUSB	HP:0001249	Intellectual disability	5/7	OMIM:615777
2990	GUSB	HP:0001263	Global developmental delay	-	OMIM:615777
2990	GUSB	HP:0002515	Waddling gait	54/102	OMIM:131300
2990	GUSB	HP:0008807	Acetabular dysplasia	15/28	OMIM:253220
2990	GUSB	HP:0025372	Loud snoring	15/22	OMIM:253220
2990	GUSB	HP:0001376	Limitation of joint mobility	22/26	OMIM:253220
2990	GUSB	HP:0001371	Flexion contracture	21/25	OMIM:253220
2990	GUSB	HP:0001387	Joint stiffness	HP:0040282	ORPHA:584
2990	GUSB	HP:0001387	Joint stiffness	18/25	OMIM:253220
2990	GUSB	HP:0001382	Joint hypermobility	-	OMIM:615777
2990	GUSB	HP:0000023	Inguinal hernia	HP:0040281	ORPHA:584
2990	GUSB	HP:0002680	J-shaped sella turcica	-	OMIM:253220
2990	GUSB	HP:0002694	Sclerosis of skull base	-	OMIM:131300
2990	GUSB	HP:0008897	Postnatal growth retardation	-	OMIM:615777
2990	GUSB	HP:0008897	Postnatal growth retardation	1/1	OMIM:253220
2990	GUSB	HP:0008818	Large iliac wing	1/1	OMIM:253220
2990	GUSB	HP:0006119	Proximal tapering of metacarpals	-	OMIM:253220
2990	GUSB	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
2990	GUSB	HP:0001324	Muscle weakness	40/96	OMIM:131300
2990	GUSB	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
2990	GUSB	HP:0000007	Autosomal recessive inheritance	-	OMIM:253220
2990	GUSB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
2990	GUSB	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
2990	GUSB	HP:0002650	Scoliosis	HP:0040281	ORPHA:584
2990	GUSB	HP:0002650	Scoliosis	12/14	OMIM:131300
2990	GUSB	HP:0002650	Scoliosis	18/26	OMIM:253220
2990	GUSB	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
2990	GUSB	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
2990	GUSB	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
2990	GUSB	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
2990	GUSB	HP:0000158	Macroglossia	16/25	OMIM:253220
2990	GUSB	HP:0000175	Cleft palate	2/7	OMIM:615777
2990	GUSB	HP:0012115	Hepatitis	HP:0040282	ORPHA:584
2990	GUSB	HP:0005019	Diaphyseal undertubulation	HP:0040281	ORPHA:584
2990	GUSB	HP:0002788	Recurrent upper respiratory tract infections	18/26	OMIM:253220
2990	GUSB	HP:0003311	Hypoplasia of the odontoid process	-	OMIM:253220
2990	GUSB	HP:0003375	Narrow greater sciatic notch	-	OMIM:253220
2990	GUSB	HP:0003388	Easy fatigability	36/76	OMIM:131300
2990	GUSB	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
2990	GUSB	HP:0004607	Anterior beaking of lower thoracic vertebrae	-	OMIM:253220
2990	GUSB	HP:0004607	Anterior beaking of lower thoracic vertebrae	HP:0040281	ORPHA:584
2990	GUSB	HP:0008155	Mucopolysacchariduria	HP:0040282	ORPHA:584
2990	GUSB	HP:0002103	Abnormal pleura morphology	HP:0040281	ORPHA:584
2990	GUSB	HP:0002180	Neurodegeneration	-	OMIM:253220
2990	GUSB	HP:0002159	Heparan sulfate excretion in urine	-	OMIM:253220
2990	GUSB	HP:0003593	Infantile onset	5/16	OMIM:253220
2990	GUSB	HP:0002240	Hepatomegaly	2/3	OMIM:253220
2990	GUSB	HP:0003541	Urinary glycosaminoglycan excretion	1/1	OMIM:253220
2990	GUSB	HP:0002208	Coarse hair	19/31	OMIM:253220
2990	GUSB	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:584
2990	GUSB	HP:0010655	Epiphyseal stippling	HP:0040282	ORPHA:584
2990	GUSB	HP:0008301	Dermatan sulfate excretion in urine	-	OMIM:253220
2990	GUSB	HP:0003510	Severe short stature	7/7	OMIM:615777
2990	GUSB	HP:0003510	Severe short stature	1/1	OMIM:253220
2990	GUSB	HP:0001004	Lymphedema	HP:0040281	ORPHA:584
2990	GUSB	HP:0001007	Hirsutism	-	OMIM:253220
2990	GUSB	HP:0002315	Headache	-	OMIM:131300
2990	GUSB	HP:0004976	Knee dislocation	6/7	OMIM:615777
2990	GUSB	HP:0100625	Enlarged thorax	HP:0040283	ORPHA:584
2990	GUSB	HP:0009803	Short phalanx of finger	-	OMIM:615777
2990	GUSB	HP:0008430	Anterior beaking of lumbar vertebrae	-	OMIM:253220
2990	GUSB	HP:0008430	Anterior beaking of lumbar vertebrae	HP:0040281	ORPHA:584
2990	GUSB	HP:0009763	Limb pain	63/92	OMIM:131300
2990	GUSB	HP:0003621	Juvenile onset	-	OMIM:131300
2990	GUSB	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
2990	GUSB	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
2990	GUSB	HP:6001056	Out-toeing	-	OMIM:131300
2990	GUSB	HP:0000651	Diplopia	-	OMIM:131300
2990	GUSB	HP:0000613	Photophobia	6/20	OMIM:253220
2990	GUSB	HP:0001956	Truncal obesity	2/7	OMIM:615777
2990	GUSB	HP:0001903	Anemia	HP:0040283	OMIM:131300
2990	GUSB	HP:0010049	Short metacarpal	-	OMIM:615777
2990	GUSB	HP:0000678	Dental crowding	-	OMIM:615777
2990	GUSB	HP:0000687	Widely spaced teeth	13/21	OMIM:253220
2990	GUSB	HP:0000670	Carious teeth	-	OMIM:131300
2990	GUSB	HP:0011304	Broad thumb	2/7	OMIM:615777
2990	GUSB	HP:0000668	Hypodontia	-	OMIM:615777
2990	GUSB	HP:0000664	Synophrys	-	OMIM:615777
2990	GUSB	HP:0004322	Short stature	24/30	OMIM:253220
2990	GUSB	HP:0005619	Thoracolumbar kyphosis	-	OMIM:253220
2990	GUSB	HP:0005616	Accelerated skeletal maturation	1/1	OMIM:253220
2990	GUSB	HP:0004396	Poor appetite	-	OMIM:131300
2990	GUSB	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
2990	GUSB	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
2990	GUSB	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
2990	GUSB	HP:0003026	Short long bone	7/7	OMIM:615777
2990	GUSB	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
2990	GUSB	HP:0000767	Pectus excavatum	2/7	OMIM:615777
2990	GUSB	HP:0000767	Pectus excavatum	1/1	OMIM:253220
2990	GUSB	HP:0000768	Pectus carinatum	1/7	OMIM:615777
2990	GUSB	HP:0000768	Pectus carinatum	-	OMIM:253220
2990	GUSB	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
2990	GUSB	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:584
2990	GUSB	HP:0000750	Delayed speech and language development	-	OMIM:615777
2990	GUSB	HP:0011461	Fetal onset	7/7	OMIM:615777
2990	GUSB	HP:0011461	Fetal onset	11/15	OMIM:253220
2990	GUSB	HP:0000774	Narrow chest	2/7	OMIM:615777
2990	GUSB	HP:0000926	Platyspondyly	1/7	OMIM:615777
2990	GUSB	HP:0000926	Platyspondyly	-	OMIM:253220
2990	GUSB	HP:0003180	Flat acetabular roof	-	OMIM:615777
2990	GUSB	HP:0004482	Relative macrocephaly	-	OMIM:615777
2990	GUSB	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
2990	GUSB	HP:0004469	Chronic bronchitis	7/29	OMIM:253220
2990	GUSB	HP:0000823	Delayed puberty	-	OMIM:131300
2990	GUSB	HP:0000894	Short clavicles	-	OMIM:615777
2990	GUSB	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
2990	GUSB	HP:0003272	Abnormal hip bone morphology	HP:0040282	ORPHA:584
2990	GUSB	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
2990	GUSB	HP:0000943	Dysostosis multiplex	26/29	OMIM:253220
2990	GUSB	HP:0000286	Epicanthus	1/7	OMIM:615777
2990	GUSB	HP:0000286	Epicanthus	1/1	OMIM:253220
2990	GUSB	HP:0000280	Coarse facial features	HP:0040281	ORPHA:584
2990	GUSB	HP:0000280	Coarse facial features	2/7	OMIM:615777
2990	GUSB	HP:0000280	Coarse facial features	27/31	OMIM:253220
2990	GUSB	HP:0000256	Macrocephaly	26/30	OMIM:253220
2990	GUSB	HP:0002827	Hip dislocation	3/7	OMIM:615777
2990	GUSB	HP:0002808	Kyphosis	18/26	OMIM:253220
2990	GUSB	HP:0000238	Hydrocephalus	-	OMIM:253220
2990	GUSB	HP:0000252	Microcephaly	-	OMIM:615777
2990	GUSB	HP:0000212	Gingival overgrowth	12/21	OMIM:253220
2990	GUSB	HP:0002857	Genu valgum	-	OMIM:131300
2990	GUSB	HP:0002857	Genu valgum	17/27	OMIM:253220
2990	GUSB	HP:0001540	Diastasis recti	1/1	OMIM:253220
2990	GUSB	HP:0002870	Obstructive sleep apnea	7/20	OMIM:253220
2990	GUSB	HP:0001541	Ascites	HP:0040281	ORPHA:584
2990	GUSB	HP:0001537	Umbilical hernia	HP:0040281	ORPHA:584
2990	GUSB	HP:0001537	Umbilical hernia	3/3	OMIM:253220
2990	GUSB	HP:0001538	Protuberant abdomen	1/1	OMIM:253220
2990	GUSB	HP:0001533	Slender build	-	OMIM:131300
2990	GUSB	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
2990	GUSB	HP:0007807	Optic nerve compression	-	OMIM:131300
2990	GUSB	HP:0012368	Flat face	7/7	OMIM:615777
2990	GUSB	HP:0012368	Flat face	HP:0040281	ORPHA:584
2990	GUSB	HP:0006536	Airway obstruction	11/25	OMIM:253220
2990	GUSB	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
2990	GUSB	HP:0000365	Hearing impairment	10/67	OMIM:131300
2990	GUSB	HP:0000365	Hearing impairment	-	OMIM:253220
2990	GUSB	HP:0000343	Long philtrum	1/7	OMIM:615777
2990	GUSB	HP:0011001	Increased bone mineral density	-	OMIM:131300
2990	GUSB	HP:0012307	Spatulate ribs	1/1	OMIM:253220
2990	GUSB	HP:0000311	Round face	2/7	OMIM:615777
2990	GUSB	HP:0001654	Abnormal heart valve morphology	-	OMIM:253220
2990	GUSB	HP:0000324	Facial asymmetry	1/1	OMIM:253220
2990	GUSB	HP:0002970	Genu varum	-	OMIM:615777
2990	GUSB	HP:0001638	Cardiomyopathy	9/24	OMIM:253220
2990	GUSB	HP:0000303	Mandibular prognathia	-	OMIM:131300
2990	GUSB	HP:0007957	Corneal opacity	HP:0040281	ORPHA:584
2990	GUSB	HP:0007957	Corneal opacity	19/30	OMIM:253220
2990	GUSB	HP:0000407	Sensorineural hearing impairment	10/24	OMIM:253220
2990	GUSB	HP:0000403	Recurrent otitis media	13/25	OMIM:253220
2990	GUSB	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
2990	GUSB	HP:0001789	Hydrops fetalis	HP:0040282	ORPHA:584
2990	GUSB	HP:0001789	Hydrops fetalis	56/119	OMIM:253220
2990	GUSB	HP:0000470	Short neck	HP:0040283	ORPHA:584
2990	GUSB	HP:0000470	Short neck	1/7	OMIM:615777
2990	GUSB	HP:0000470	Short neck	22/28	OMIM:253220
2990	GUSB	HP:0001769	Broad foot	HP:0040283	OMIM:615777
2990	GUSB	HP:0001763	Pes planus	1/7	OMIM:615777
2990	GUSB	HP:0001744	Splenomegaly	HP:0040282	ORPHA:584
2990	GUSB	HP:0001744	Splenomegaly	-	OMIM:253220
2990	GUSB	HP:0001762	Talipes equinovarus	9/26	OMIM:253220
2990	GUSB	HP:0001840	Metatarsus adductus	HP:0040282	ORPHA:584
2990	GUSB	HP:0001840	Metatarsus adductus	-	OMIM:253220
2990	GUSB	HP:0001840	Metatarsus adductus	-	OMIM:615777
2990	GUSB	HP:0000520	Proptosis	2/4	OMIM:131300
2990	GUSB	HP:0000520	Proptosis	7/7	OMIM:615777
2990	GUSB	HP:0000505	Visual impairment	9/24	OMIM:253220
2990	GUSB	HP:0000592	Blue sclerae	2/7	OMIM:615777
2990	GUSB	HP:0000574	Thick eyebrow	13/25	OMIM:253220
2990	GUSB	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
2990	GUSB	HP:0012514	Lower limb pain	4/4	OMIM:131300
2992	GYG1	HP:0002460	Distal muscle weakness	1/7	OMIM:616199
2992	GYG1	HP:0010872	T-wave inversion	HP:0040282	ORPHA:263297
2992	GYG1	HP:0010872	T-wave inversion	1/1	OMIM:613507
2992	GYG1	HP:0003749	Pelvic girdle muscle weakness	6/7	OMIM:616199
2992	GYG1	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:263297
2992	GYG1	HP:0001288	Gait disturbance	-	OMIM:616199
2992	GYG1	HP:0003803	Type 1 muscle fiber predominance	1/1	OMIM:613507
2992	GYG1	HP:0001324	Muscle weakness	1/1	OMIM:613507
2992	GYG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616199
2992	GYG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613507
2992	GYG1	HP:0008946	Pelvic girdle amyotrophy	2/7	OMIM:616199
2992	GYG1	HP:0003325	Limb-girdle muscle weakness	-	OMIM:616199
2992	GYG1	HP:0011727	Peroneal muscle weakness	1/7	OMIM:616199
2992	GYG1	HP:0011712	Complete right bundle branch block	1/1	OMIM:613507
2992	GYG1	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:263297
2992	GYG1	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:263297
2992	GYG1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:263297
2992	GYG1	HP:0004756	Ventricular tachycardia	HP:0040282	ORPHA:263297
2992	GYG1	HP:0004751	Paroxysmal ventricular tachycardia	1/1	OMIM:613507
2992	GYG1	HP:0010546	Muscle fibrillation	3/7	OMIM:616199
2992	GYG1	HP:0003596	Middle age onset	1/7	OMIM:616199
2992	GYG1	HP:0003584	Late onset	3/7	OMIM:616199
2992	GYG1	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:263297
2992	GYG1	HP:0003547	Shoulder girdle muscle weakness	4/7	OMIM:616199
2992	GYG1	HP:0003691	Scapular winging	1/1	OMIM:613507
2992	GYG1	HP:0003677	Slowly progressive	-	OMIM:616199
2992	GYG1	HP:0002321	Vertigo	HP:0040282	ORPHA:263297
2992	GYG1	HP:0034766	Muscle fiber polyglucosan inclusion bodies	5/5	OMIM:616199
2992	GYG1	HP:0001962	Palpitations	HP:0040282	ORPHA:263297
2992	GYG1	HP:0009023	Abdominal wall muscle weakness	HP:0040282	ORPHA:263297
2992	GYG1	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:263297
2992	GYG1	HP:0011463	Childhood onset	1/7	OMIM:616199
2992	GYG1	HP:0011462	Young adult onset	2/7	OMIM:616199
2992	GYG1	HP:0003199	Decreased muscle mass	HP:0040282	ORPHA:263297
2992	GYG1	HP:0000819	Diabetes mellitus	-	ORPHA:263297
2992	GYG1	HP:0000821	Hypothyroidism	-	ORPHA:263297
2992	GYG1	HP:0040014	Increased mitochondrial number	HP:0040282	ORPHA:263297
2992	GYG1	HP:0040081	Abnormal circulating creatine kinase concentration	-	ORPHA:263297
2992	GYG1	HP:0003236	Elevated circulating creatine kinase concentration	1/7	OMIM:616199
2992	GYG1	HP:0100299	Muscle fiber inclusion bodies	7/7	OMIM:616199
2992	GYG1	HP:0011675	Arrhythmia	HP:0040282	ORPHA:263297
2992	GYG1	HP:0012270	Decreased muscle glycogen content	HP:0040282	ORPHA:263297
2992	GYG1	HP:0012251	ST segment elevation	HP:0040282	ORPHA:263297
2992	GYG1	HP:0012251	ST segment elevation	1/1	OMIM:613507
2992	GYG1	HP:0005144	Ventricular septal hypertrophy	HP:0040282	ORPHA:263297
2992	GYG1	HP:0031319	Cardiomyocyte hypertrophy	HP:0040282	ORPHA:263297
2992	GYG1	HP:0031319	Cardiomyocyte hypertrophy	1/1	OMIM:613507
2992	GYG1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:263297
2992	GYG1	HP:0001663	Ventricular fibrillation	HP:0040282	ORPHA:263297
2992	GYG1	HP:0001663	Ventricular fibrillation	1/1	OMIM:613507
2992	GYG1	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:263297
2992	GYG1	HP:0001714	Ventricular hypertrophy	HP:0040282	ORPHA:263297
2992	GYG1	HP:0030237	Hand muscle weakness	1/7	OMIM:616199
2992	GYG1	HP:0025708	Early young adult onset	1/1	OMIM:613507
2995	GYPC	HP:0025143	Chills	HP:0040284	ORPHA:288
2995	GYPC	HP:0008897	Postnatal growth retardation	HP:0040284	ORPHA:288
2995	GYPC	HP:0002027	Abdominal pain	HP:0040284	ORPHA:288
2995	GYPC	HP:0002007	Frontal bossing	HP:0040284	ORPHA:288
2995	GYPC	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:288
2995	GYPC	HP:0004804	Congenital hemolytic anemia	HP:0040283	ORPHA:288
2995	GYPC	HP:0200042	Skin ulcer	HP:0040283	ORPHA:288
2995	GYPC	HP:0001081	Cholelithiasis	HP:0040284	ORPHA:288
2995	GYPC	HP:0005502	Increased red cell osmotic fragility	HP:0040282	ORPHA:288
2995	GYPC	HP:0001945	Fever	HP:0040284	ORPHA:288
2995	GYPC	HP:0001923	Reticulocytosis	HP:0040283	ORPHA:288
2995	GYPC	HP:0004446	Stomatocytosis	HP:0040283	ORPHA:288
2995	GYPC	HP:0004445	Elliptocytosis	HP:0040282	ORPHA:288
2995	GYPC	HP:0004447	Poikilocytosis	HP:0040283	ORPHA:288
2995	GYPC	HP:0003265	Neonatal hyperbilirubinemia	HP:0040283	ORPHA:288
2995	GYPC	HP:0000952	Jaundice	HP:0040283	ORPHA:288
2995	GYPC	HP:0012378	Fatigue	HP:0040283	ORPHA:288
2995	GYPC	HP:0006579	Prolonged neonatal jaundice	HP:0040283	ORPHA:288
2995	GYPC	HP:0002904	Hyperbilirubinemia	HP:0040283	ORPHA:288
2995	GYPC	HP:0001789	Hydrops fetalis	HP:0040284	ORPHA:288
2995	GYPC	HP:0001744	Splenomegaly	HP:0040283	ORPHA:288
2995	GYPC	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:288
2995	GYPC	HP:0001877	Abnormal erythrocyte morphology	HP:0040280	ORPHA:288
2997	GYS1	HP:0001297	Stroke	-	OMIM:611556
2997	GYS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:611556
2997	GYS1	HP:0031295	Left atrial enlargement	-	OMIM:611556
2997	GYS1	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:611556
2997	GYS1	HP:0003546	Exercise intolerance	-	OMIM:611556
2997	GYS1	HP:0012270	Decreased muscle glycogen content	-	OMIM:611556
2997	GYS1	HP:0001638	Cardiomyopathy	-	OMIM:611556
2997	GYS1	HP:0001712	Left ventricular hypertrophy	-	OMIM:611556
2998	GYS2	HP:0001254	Lethargy	HP:0040283	ORPHA:2089
2998	GYS2	HP:0001250	Seizure	HP:0040283	ORPHA:2089
2998	GYS2	HP:0001250	Seizure	-	OMIM:240600
2998	GYS2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2089
2998	GYS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:240600
2998	GYS2	HP:0002151	Increased circulating lactate concentration	-	OMIM:240600
2998	GYS2	HP:0011998	Postprandial hyperglycemia	HP:0040282	ORPHA:2089
2998	GYS2	HP:0011998	Postprandial hyperglycemia	-	OMIM:240600
2998	GYS2	HP:0001946	Ketosis	-	OMIM:240600
2998	GYS2	HP:0001946	Ketosis	HP:0040282	ORPHA:2089
2998	GYS2	HP:0001998	Neonatal hypoglycemia	-	OMIM:240600
2998	GYS2	HP:0004322	Short stature	HP:0040283	ORPHA:2089
2998	GYS2	HP:0003077	Hyperlipidemia	HP:0040283	ORPHA:2089
2998	GYS2	HP:0003076	Glycosuria	HP:0040282	ORPHA:2089
2998	GYS2	HP:0012734	Ketotic hypoglycemia	HP:0040282	ORPHA:2089
2998	GYS2	HP:0000737	Irritability	HP:0040282	ORPHA:2089
2998	GYS2	HP:0003162	Fasting hypoglycemia	-	OMIM:240600
2998	GYS2	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2089
2998	GYS2	HP:0002919	Ketonuria	HP:0040282	ORPHA:2089
2998	GYS2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:2089
2998	GYS2	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:2089
3000	GUCY2D	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
3000	GUCY2D	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
3000	GUCY2D	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
3000	GUCY2D	HP:0001270	Motor delay	HP:0040283	ORPHA:65
3000	GUCY2D	HP:0001250	Seizure	HP:0040282	ORPHA:65
3000	GUCY2D	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
3000	GUCY2D	HP:0001249	Intellectual disability	-	OMIM:204000
3000	GUCY2D	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
3000	GUCY2D	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
3000	GUCY2D	HP:0007401	Macular atrophy	15/16	OMIM:601777
3000	GUCY2D	HP:0007401	Macular atrophy	HP:0040282	ORPHA:75377
3000	GUCY2D	HP:0003831	Typified by age-related disease onset	-	OMIM:601777
3000	GUCY2D	HP:0012047	Hemeralopia	-	OMIM:601777
3000	GUCY2D	HP:0031152	Full-thickness macular hole	HP:0040281	ORPHA:75377
3000	GUCY2D	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
3000	GUCY2D	HP:0000007	Autosomal recessive inheritance	-	OMIM:204000
3000	GUCY2D	HP:0000007	Autosomal recessive inheritance	-	OMIM:601777
3000	GUCY2D	HP:0000007	Autosomal recessive inheritance	-	OMIM:618555
3000	GUCY2D	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
3000	GUCY2D	HP:0000006	Autosomal dominant inheritance	-	OMIM:215500
3000	GUCY2D	HP:0000006	Autosomal dominant inheritance	-	OMIM:601777
3000	GUCY2D	HP:0001483	Eye poking	2/6	OMIM:204000
3000	GUCY2D	HP:0001483	Eye poking	HP:0040282	ORPHA:65
3000	GUCY2D	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
3000	GUCY2D	HP:0007675	Progressive night blindness	-	OMIM:601777
3000	GUCY2D	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
3000	GUCY2D	HP:0007663	Reduced visual acuity	6/6	OMIM:204000
3000	GUCY2D	HP:0007663	Reduced visual acuity	6/6	OMIM:601777
3000	GUCY2D	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:75377
3000	GUCY2D	HP:0007641	Dyschromatopsia	6/6	OMIM:601777
3000	GUCY2D	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
3000	GUCY2D	HP:0007641	Dyschromatopsia	HP:0040284	ORPHA:75377
3000	GUCY2D	HP:0003354	Hyperthreoninemia	-	OMIM:204000
3000	GUCY2D	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
3000	GUCY2D	HP:0003593	Infantile onset	6/6	OMIM:204000
3000	GUCY2D	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
3000	GUCY2D	HP:0002240	Hepatomegaly	-	OMIM:204000
3000	GUCY2D	HP:0001099	Fundus atrophy	-	OMIM:204000
3000	GUCY2D	HP:0003621	Juvenile onset	8/19	OMIM:180100
3000	GUCY2D	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
3000	GUCY2D	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
3000	GUCY2D	HP:0000639	Nystagmus	6/6	OMIM:204000
3000	GUCY2D	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
3000	GUCY2D	HP:0000639	Nystagmus	-	OMIM:601777
3000	GUCY2D	HP:0000618	Blindness	2/6	OMIM:204000
3000	GUCY2D	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
3000	GUCY2D	HP:0000613	Photophobia	HP:0040282	ORPHA:65
3000	GUCY2D	HP:0000613	Photophobia	1/5	OMIM:204000
3000	GUCY2D	HP:0000613	Photophobia	4/6	OMIM:601777
3000	GUCY2D	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
3000	GUCY2D	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
3000	GUCY2D	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
3000	GUCY2D	HP:0030491	Choriocapillaris atrophy	-	OMIM:215500
3000	GUCY2D	HP:0030491	Choriocapillaris atrophy	HP:0040283	ORPHA:75377
3000	GUCY2D	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
3000	GUCY2D	HP:0000662	Nyctalopia	26/28	OMIM:180100
3000	GUCY2D	HP:0000662	Nyctalopia	6/6	OMIM:601777
3000	GUCY2D	HP:0000662	Nyctalopia	5/5	OMIM:618555
3000	GUCY2D	HP:0000662	Nyctalopia	HP:0040284	ORPHA:75377
3000	GUCY2D	HP:0000662	Nyctalopia	1/5	OMIM:204000
3000	GUCY2D	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	-	OMIM:204000
3000	GUCY2D	HP:0030615	Foveal photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:75377
3000	GUCY2D	HP:0030629	Perifoveal ring of hyperautofluorescence	HP:0040283	ORPHA:75377
3000	GUCY2D	HP:0030631	Hyperautofluorescent macular lesion	HP:0040281	ORPHA:75377
3000	GUCY2D	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
3000	GUCY2D	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
3000	GUCY2D	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
3000	GUCY2D	HP:0011463	Childhood onset	3/19	OMIM:180100
3000	GUCY2D	HP:0011463	Childhood onset	-	OMIM:601777
3000	GUCY2D	HP:0011462	Young adult onset	8/19	OMIM:180100
3000	GUCY2D	HP:0011510	Drusen	HP:0040283	ORPHA:75377
3000	GUCY2D	HP:0003296	Hyperthreoninuria	-	OMIM:204000
3000	GUCY2D	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
3000	GUCY2D	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
3000	GUCY2D	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
3000	GUCY2D	HP:0007737	Bone spicule pigmentation of the retina	3/6	OMIM:601777
3000	GUCY2D	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
3000	GUCY2D	HP:0001510	Growth delay	-	OMIM:204000
3000	GUCY2D	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
3000	GUCY2D	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
3000	GUCY2D	HP:0007843	Attenuation of retinal blood vessels	1/6	OMIM:601777
3000	GUCY2D	HP:0007843	Attenuation of retinal blood vessels	2/6	OMIM:204000
3000	GUCY2D	HP:0007814	Retinal pigment epithelial mottling	HP:0040283	ORPHA:75377
3000	GUCY2D	HP:0007894	Hypopigmentation of the fundus	HP:0040282	ORPHA:75377
3000	GUCY2D	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
3000	GUCY2D	HP:0007924	Slow decrease in visual acuity	HP:0040282	ORPHA:75377
3000	GUCY2D	HP:0007994	Peripheral visual field loss	-	OMIM:601777
3000	GUCY2D	HP:0007980	Absent retinal pigment epithelium	HP:0040283	ORPHA:75377
3000	GUCY2D	HP:0000407	Sensorineural hearing impairment	-	OMIM:204000
3000	GUCY2D	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
3000	GUCY2D	HP:0012426	Optic disc drusen	1/6	OMIM:204000
3000	GUCY2D	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
3000	GUCY2D	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
3000	GUCY2D	HP:0000518	Cataract	-	OMIM:204000
3000	GUCY2D	HP:0000518	Cataract	HP:0040282	ORPHA:65
3000	GUCY2D	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
3000	GUCY2D	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
3000	GUCY2D	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
3000	GUCY2D	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
3000	GUCY2D	HP:0000505	Visual impairment	HP:0040282	ORPHA:75377
3000	GUCY2D	HP:0000580	Pigmentary retinopathy	-	OMIM:215500
3000	GUCY2D	HP:0000580	Pigmentary retinopathy	-	OMIM:204000
3000	GUCY2D	HP:0000575	Scotoma	5/18	OMIM:180100
3000	GUCY2D	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
3000	GUCY2D	HP:0000563	Keratoconus	3/5	OMIM:204000
3000	GUCY2D	HP:0000572	Visual loss	HP:0040282	ORPHA:75377
3000	GUCY2D	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
3000	GUCY2D	HP:0000533	Chorioretinal atrophy	-	OMIM:215500
3000	GUCY2D	HP:0000533	Chorioretinal atrophy	6/6	OMIM:601777
3000	GUCY2D	HP:0000533	Chorioretinal atrophy	HP:0040283	ORPHA:75377
3000	GUCY2D	HP:0000552	Tritanomaly	2/5	OMIM:618555
3000	GUCY2D	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
3000	GUCY2D	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:601777
3000	GUCY2D	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
3000	GUCY2D	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
3000	GUCY2D	HP:0000543	Optic disc pallor	1/1	OMIM:180100
3000	GUCY2D	HP:0000545	Myopia	-	OMIM:180100
3008	H1-4	HP:0009890	High anterior hairline	5/5	OMIM:617537
3008	H1-4	HP:0003764	Nevus	1/5	OMIM:617537
3008	H1-4	HP:0001276	Hypertonia	1/5	OMIM:617537
3008	H1-4	HP:0001249	Intellectual disability	4/4	OMIM:617537
3008	H1-4	HP:0001263	Global developmental delay	5/5	OMIM:617537
3008	H1-4	HP:0000028	Cryptorchidism	1/5	OMIM:617537
3008	H1-4	HP:0033725	Thin corpus callosum	1/5	OMIM:617537
3008	H1-4	HP:0000006	Autosomal dominant inheritance	-	OMIM:617537
3008	H1-4	HP:0001319	Neonatal hypotonia	2/5	OMIM:617537
3008	H1-4	HP:0002751	Kyphoscoliosis	1/5	OMIM:617537
3008	H1-4	HP:0002119	Ventriculomegaly	1/5	OMIM:617537
3008	H1-4	HP:0003577	Congenital onset	1/5	OMIM:617537
3008	H1-4	HP:0011968	Feeding difficulties	2/5	OMIM:617537
3008	H1-4	HP:0003623	Neonatal onset	4/5	OMIM:617537
3008	H1-4	HP:0000646	Amblyopia	1/5	OMIM:617537
3008	H1-4	HP:0005616	Accelerated skeletal maturation	1/5	OMIM:617537
3008	H1-4	HP:0000739	Anxiety	1/5	OMIM:617537
3008	H1-4	HP:0000293	Full cheeks	5/5	OMIM:617537
3008	H1-4	HP:0000256	Macrocephaly	-	OMIM:617537
3008	H1-4	HP:0001582	Redundant skin	1/5	OMIM:617537
3008	H1-4	HP:0012385	Camptodactyly	1/5	OMIM:617537
3008	H1-4	HP:0000483	Astigmatism	1/5	OMIM:617537
3008	H1-4	HP:0000486	Strabismus	1/5	OMIM:617537
3008	H1-4	HP:0012450	Chronic constipation	1/5	OMIM:617537
3008	H1-4	HP:0001762	Talipes equinovarus	1/5	OMIM:617537
3008	H1-4	HP:0000506	Telecanthus	5/5	OMIM:617537
3020	H3-3A	HP:0001182	Tapered finger	3/33	OMIM:619720
3020	H3-3A	HP:0001274	Agenesis of corpus callosum	1/32	OMIM:619720
3020	H3-3A	HP:0001250	Seizure	17/33	OMIM:619720
3020	H3-3A	HP:0001252	Hypotonia	27/33	OMIM:619720
3020	H3-3A	HP:0001263	Global developmental delay	32/32	OMIM:619720
3020	H3-3A	HP:0001257	Spasticity	6/33	OMIM:619720
3020	H3-3A	HP:0002562	Low-set nipples	1/33	OMIM:619720
3020	H3-3A	HP:0001371	Flexion contracture	10/33	OMIM:619720
3020	H3-3A	HP:0025336	Delayed ability to sit	29/32	OMIM:619720
3020	H3-3A	HP:0001382	Joint hypermobility	6/33	OMIM:619720
3020	H3-3A	HP:0001357	Plagiocephaly	3/33	OMIM:619720
3020	H3-3A	HP:0033725	Thin corpus callosum	1/32	OMIM:619720
3020	H3-3A	HP:0000006	Autosomal dominant inheritance	-	OMIM:619720
3020	H3-3A	HP:0001320	Cerebellar vermis hypoplasia	1/32	OMIM:619720
3020	H3-3A	HP:0000194	Open mouth	2/33	OMIM:619720
3020	H3-3A	HP:0000160	Narrow mouth	1/33	OMIM:619720
3020	H3-3A	HP:0000154	Wide mouth	1/33	OMIM:619720
3020	H3-3A	HP:0002714	Downturned corners of mouth	3/33	OMIM:619720
3020	H3-3A	HP:0002020	Gastroesophageal reflux	11/33	OMIM:619720
3020	H3-3A	HP:0002002	Deep philtrum	2/33	OMIM:619720
3020	H3-3A	HP:0002007	Frontal bossing	3/66	OMIM:619720
3020	H3-3A	HP:0011800	Midface retrusion	4/66	OMIM:619720
3020	H3-3A	HP:0002120	Cerebral cortical atrophy	5/28	OMIM:619720
3020	H3-3A	HP:0002119	Ventriculomegaly	3/32	OMIM:619720
3020	H3-3A	HP:0002162	Low posterior hairline	1/33	OMIM:619720
3020	H3-3A	HP:0002263	Exaggerated cupid's bow	3/33	OMIM:619720
3020	H3-3A	HP:0100704	Cerebral visual impairment	1/33	OMIM:619720
3020	H3-3A	HP:0007099	Chiari type I malformation	1/32	OMIM:619720
3020	H3-3A	HP:0002376	Developmental regression	5/32	OMIM:619720
3020	H3-3A	HP:0010804	Tented upper lip vermilion	2/33	OMIM:619720
3020	H3-3A	HP:0000639	Nystagmus	3/33	OMIM:619720
3020	H3-3A	HP:0011304	Broad thumb	2/33	OMIM:619720
3020	H3-3A	HP:0031936	Delayed ability to walk	30/31	OMIM:619720
3020	H3-3A	HP:0000752	Hyperactivity	1/32	OMIM:619720
3020	H3-3A	HP:0000750	Delayed speech and language development	30/31	OMIM:619720
3020	H3-3A	HP:0000729	Autistic behavior	2/32	OMIM:619720
3020	H3-3A	HP:0045075	Sparse eyebrow	2/33	OMIM:619720
3020	H3-3A	HP:0000954	Single transverse palmar crease	1/33	OMIM:619720
3020	H3-3A	HP:0000286	Epicanthus	9/33	OMIM:619720
3020	H3-3A	HP:0000294	Low anterior hairline	3/33	OMIM:619720
3020	H3-3A	HP:0000289	Broad philtrum	1/33	OMIM:619720
3020	H3-3A	HP:0000256	Macrocephaly	2/33	OMIM:619720
3020	H3-3A	HP:0000252	Microcephaly	8/33	OMIM:619720
3020	H3-3A	HP:0000232	Everted lower lip vermilion	2/33	OMIM:619720
3020	H3-3A	HP:0001601	Laryngomalacia	5/33	OMIM:619720
3020	H3-3A	HP:0000358	Posteriorly rotated ears	4/33	OMIM:619720
3020	H3-3A	HP:0000369	Low-set ears	7/33	OMIM:619720
3020	H3-3A	HP:0000341	Narrow forehead	4/33	OMIM:619720
3020	H3-3A	HP:0000343	Long philtrum	1/33	OMIM:619720
3020	H3-3A	HP:0000348	High forehead	4/33	OMIM:619720
3020	H3-3A	HP:0000347	Micrognathia	3/33	OMIM:619720
3020	H3-3A	HP:0000319	Smooth philtrum	1/33	OMIM:619720
3020	H3-3A	HP:0001647	Bicuspid aortic valve	1/33	OMIM:619720
3020	H3-3A	HP:0000316	Hypertelorism	8/33	OMIM:619720
3020	H3-3A	HP:0001631	Atrial septal defect	7/33	OMIM:619720
3020	H3-3A	HP:0000303	Mandibular prognathia	1/33	OMIM:619720
3020	H3-3A	HP:0005280	Depressed nasal bridge	7/33	OMIM:619720
3020	H3-3A	HP:0000486	Strabismus	7/33	OMIM:619720
3020	H3-3A	HP:0000494	Downslanted palpebral fissures	6/33	OMIM:619720
3020	H3-3A	HP:0000490	Deeply set eye	5/33	OMIM:619720
3020	H3-3A	HP:0000463	Anteverted nares	4/33	OMIM:619720
3020	H3-3A	HP:0012450	Chronic constipation	9/32	OMIM:619720
3020	H3-3A	HP:0001770	Toe syndactyly	3/33	OMIM:619720
3020	H3-3A	HP:0000430	Underdeveloped nasal alae	2/33	OMIM:619720
3020	H3-3A	HP:0000582	Upslanted palpebral fissure	4/33	OMIM:619720
3020	H3-3A	HP:0011220	Prominent forehead	7/66	OMIM:619720
3020	H3-3A	HP:0012520	Dilation of Virchow-Robin spaces	1/32	OMIM:619720
3021	H3-3B	HP:0001182	Tapered finger	3/13	OMIM:619721
3021	H3-3B	HP:0001166	Arachnodactyly	1/13	OMIM:619721
3021	H3-3B	HP:0001263	Global developmental delay	12/13	OMIM:619721
3021	H3-3B	HP:0001212	Prominent fingertip pads	2/13	OMIM:619721
3021	H3-3B	HP:0001382	Joint hypermobility	0/13	OMIM:619721
3021	H3-3B	HP:0001357	Plagiocephaly	1/13	OMIM:619721
3021	H3-3B	HP:0000006	Autosomal dominant inheritance	-	OMIM:619721
3021	H3-3B	HP:0002650	Scoliosis	4/13	OMIM:619721
3021	H3-3B	HP:0002020	Gastroesophageal reflux	4/13	OMIM:619721
3021	H3-3B	HP:0002007	Frontal bossing	1/13	OMIM:619721
3021	H3-3B	HP:0011800	Midface retrusion	2/13	OMIM:619721
3021	H3-3B	HP:0003593	Infantile onset	-	OMIM:619721
3021	H3-3B	HP:0008467	Thoracic hemivertebrae	1/13	OMIM:619721
3021	H3-3B	HP:0009765	Low hanging columella	1/13	OMIM:619721
3021	H3-3B	HP:0004209	Clinodactyly of the 5th finger	1/13	OMIM:619721
3021	H3-3B	HP:0011304	Broad thumb	0/13	OMIM:619721
3021	H3-3B	HP:0004322	Short stature	4/13	OMIM:619721
3021	H3-3B	HP:0004383	Hypoplastic left heart	1/13	OMIM:619721
3021	H3-3B	HP:0100259	Postaxial polydactyly	0/13	OMIM:619721
3021	H3-3B	HP:0000964	Eczematoid dermatitis	1/13	OMIM:619721
3021	H3-3B	HP:0008070	Sparse hair	1/13	OMIM:619721
3021	H3-3B	HP:0000256	Macrocephaly	2/13	OMIM:619721
3021	H3-3B	HP:0000268	Dolichocephaly	2/13	OMIM:619721
3021	H3-3B	HP:0000252	Microcephaly	8/13	OMIM:619721
3021	H3-3B	HP:0000248	Brachycephaly	1/13	OMIM:619721
3021	H3-3B	HP:0001548	Overgrowth	2/13	OMIM:619721
3021	H3-3B	HP:0002857	Genu valgum	1/13	OMIM:619721
3021	H3-3B	HP:0001508	Failure to thrive	4/13	OMIM:619721
3021	H3-3B	HP:0001601	Laryngomalacia	2/13	OMIM:619721
3021	H3-3B	HP:0000365	Hearing impairment	2/13	OMIM:619721
3021	H3-3B	HP:0000343	Long philtrum	1/13	OMIM:619721
3021	H3-3B	HP:0000348	High forehead	2/13	OMIM:619721
3021	H3-3B	HP:0001647	Bicuspid aortic valve	0/13	OMIM:619721
3021	H3-3B	HP:0001631	Atrial septal defect	1/13	OMIM:619721
3021	H3-3B	HP:0000303	Mandibular prognathia	1/13	OMIM:619721
3021	H3-3B	HP:0001795	Hyperconvex nail	2/13	OMIM:619721
3021	H3-3B	HP:0012450	Chronic constipation	2/13	OMIM:619721
3021	H3-3B	HP:0001763	Pes planus	1/13	OMIM:619721
3021	H3-3B	HP:0001761	Pes cavus	1/13	OMIM:619721
3021	H3-3B	HP:0005487	Prominent metopic ridge	1/13	OMIM:619721
3021	H3-3B	HP:0011220	Prominent forehead	1/13	OMIM:619721
3026	HABP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616535
3026	HABP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:188050
3026	HABP2	HP:0002653	Bone pain	HP:0040283	ORPHA:319487
3026	HABP2	HP:0002625	Deep venous thrombosis	-	OMIM:188050
3026	HABP2	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:319487
3026	HABP2	HP:0002733	Abnormal lymph node morphology	HP:0040282	ORPHA:319487
3026	HABP2	HP:0002730	Chronic noninfectious lymphadenopathy	HP:0040282	ORPHA:319487
3026	HABP2	HP:0005994	Nodular goiter	HP:0040281	ORPHA:319487
3026	HABP2	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:319487
3026	HABP2	HP:0002204	Pulmonary embolism	-	OMIM:188050
3026	HABP2	HP:0001907	Thromboembolism	-	OMIM:188050
3026	HABP2	HP:0003003	Colon cancer	HP:0040283	ORPHA:319487
3026	HABP2	HP:0011463	Childhood onset	-	OMIM:188050
3026	HABP2	HP:0004419	Recurrent thrombophlebitis	-	OMIM:188050
3026	HABP2	HP:0000853	Goiter	HP:0040282	ORPHA:319487
3026	HABP2	HP:0040198	Non-medullary thyroid carcinoma	-	OMIM:616535
3026	HABP2	HP:0012288	Neoplasm of head and neck	HP:0040281	ORPHA:319487
3026	HABP2	HP:0002895	Papillary thyroid carcinoma	HP:0040283	ORPHA:319487
3026	HABP2	HP:0006528	Chronic lung disease	HP:0040283	ORPHA:319487
3026	HABP2	HP:0005305	Cerebral venous thrombosis	-	OMIM:188050
3026	HABP2	HP:0006731	Follicular thyroid carcinoma	HP:0040281	ORPHA:319487
3026	HABP2	HP:3000037	Abnormal neck blood vessel morphology	HP:0040281	ORPHA:319487
3026	HABP2	HP:0006766	Papillary renal cell carcinoma	HP:0040283	ORPHA:319487
3026	HABP2	HP:0012531	Pain	HP:0040283	ORPHA:319487
3028	HSD17B10	HP:0002487	Hyperkinetic movements	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:391428
3028	HSD17B10	HP:0010936	Abnormality of the lower urinary tract	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0500170	Abnormal concentration of acylcarnitine in the urine	HP:0040281	ORPHA:391457
3028	HSD17B10	HP:0500170	Abnormal concentration of acylcarnitine in the urine	HP:0040282	ORPHA:391428
3028	HSD17B10	HP:0002421	Poor head control	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0001290	Generalized hypotonia	-	OMIM:300438
3028	HSD17B10	HP:0001285	Spastic tetraparesis	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0001250	Seizure	HP:0040281	ORPHA:391457
3028	HSD17B10	HP:0001250	Seizure	HP:0040282	ORPHA:391428
3028	HSD17B10	HP:0001250	Seizure	-	OMIM:300438
3028	HSD17B10	HP:0001252	Hypotonia	HP:0040282	ORPHA:391428
3028	HSD17B10	HP:0001252	Hypotonia	-	OMIM:300438
3028	HSD17B10	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0001249	Intellectual disability	HP:0040281	ORPHA:85295
3028	HSD17B10	HP:0001249	Intellectual disability	5/5	OMIM:300438
3028	HSD17B10	HP:0001264	Spastic diplegia	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0001266	Choreoathetosis	-	OMIM:300438
3028	HSD17B10	HP:0001260	Dysarthria	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0001260	Dysarthria	-	OMIM:300438
3028	HSD17B10	HP:0001263	Global developmental delay	HP:0040281	ORPHA:391457
3028	HSD17B10	HP:0001263	Global developmental delay	HP:0040282	ORPHA:391428
3028	HSD17B10	HP:0001263	Global developmental delay	-	OMIM:300438
3028	HSD17B10	HP:0001257	Spasticity	-	OMIM:300438
3028	HSD17B10	HP:0002510	Spastic tetraplegia	-	OMIM:300438
3028	HSD17B10	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:391457
3028	HSD17B10	HP:0001332	Dystonia	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0001344	Absent speech	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0001423	X-linked dominant inheritance	-	OMIM:300438
3028	HSD17B10	HP:0002015	Dysphagia	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:391428
3028	HSD17B10	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:391428
3028	HSD17B10	HP:0002120	Cerebral cortical atrophy	-	OMIM:300438
3028	HSD17B10	HP:0002134	Abnormal basal ganglia morphology	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0002180	Neurodegeneration	HP:0040282	ORPHA:391428
3028	HSD17B10	HP:0003593	Infantile onset	-	OMIM:300438
3028	HSD17B10	HP:0007030	Nonprogressive encephalopathy	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0008322	Abnormal mitochondrial morphology	-	OMIM:300438
3028	HSD17B10	HP:0002376	Developmental regression	-	OMIM:300438
3028	HSD17B10	HP:0002376	Developmental regression	HP:0040282	ORPHA:391428
3028	HSD17B10	HP:0002370	Poor coordination	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0002344	Progressive neurologic deterioration	4/5	OMIM:300438
3028	HSD17B10	HP:0006892	Frontotemporal cerebral atrophy	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0000639	Nystagmus	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0000639	Nystagmus	-	OMIM:300438
3028	HSD17B10	HP:0000648	Optic atrophy	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0000648	Optic atrophy	-	OMIM:300438
3028	HSD17B10	HP:0000618	Blindness	HP:0040282	ORPHA:391428
3028	HSD17B10	HP:0001943	Hypoglycemia	-	OMIM:300438
3028	HSD17B10	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:391428
3028	HSD17B10	HP:0001942	Metabolic acidosis	HP:0040281	ORPHA:391457
3028	HSD17B10	HP:0001942	Metabolic acidosis	HP:0040282	ORPHA:391428
3028	HSD17B10	HP:0001942	Metabolic acidosis	-	OMIM:300438
3028	HSD17B10	HP:0011343	Moderate global developmental delay	HP:0040282	ORPHA:391428
3028	HSD17B10	HP:0001987	Hyperammonemia	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:85295
3028	HSD17B10	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:391428
3028	HSD17B10	HP:0000750	Delayed speech and language development	-	OMIM:300438
3028	HSD17B10	HP:0000749	Paroxysmal bursts of laughter	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0012707	Elevated brain lactate level by MRS	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0000718	Aggressive behavior	-	OMIM:300438
3028	HSD17B10	HP:0000711	Restlessness	-	OMIM:300438
3028	HSD17B10	HP:0000711	Restlessness	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0000713	Agitation	-	OMIM:300438
3028	HSD17B10	HP:0000708	Atypical behavior	HP:0040281	ORPHA:85295
3028	HSD17B10	HP:0034290	Elevated circulating tiglylglycine concentration	5/5	OMIM:300438
3028	HSD17B10	HP:0003128	Lactic acidosis	-	OMIM:300438
3028	HSD17B10	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:391457
3028	HSD17B10	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:391428
3028	HSD17B10	HP:0003287	Abnormality of mitochondrial metabolism	HP:0040281	ORPHA:391428
3028	HSD17B10	HP:0003256	Abnormality of the coagulation cascade	HP:0040283	ORPHA:391457
3028	HSD17B10	HP:0000961	Cyanosis	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0000252	Microcephaly	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:391457
3028	HSD17B10	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:391428
3028	HSD17B10	HP:0000365	Hearing impairment	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:300438
3028	HSD17B10	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:391457
3028	HSD17B10	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0000407	Sensorineural hearing impairment	-	OMIM:300438
3028	HSD17B10	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0000572	Visual loss	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0000572	Visual loss	-	OMIM:300438
3028	HSD17B10	HP:0030391	Spoken word recognition deficit	HP:0040283	ORPHA:391428
3028	HSD17B10	HP:0000546	Retinal degeneration	-	OMIM:300438
3028	HSD17B10	HP:0000546	Retinal degeneration	HP:0040283	ORPHA:391428
3029	HAGH	HP:0000006	Autosomal dominant inheritance	-	OMIM:614033
3029	HAGH	HP:0003258	Glyoxalase deficiency	-	OMIM:614033
3030	HADHA	HP:0025145	Rigors	HP:0040284	ORPHA:746
3030	HADHA	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	-	OMIM:609016
3030	HADHA	HP:0002476	Primitive reflex	HP:0040284	ORPHA:746
3030	HADHA	HP:0003756	Skeletal myopathy	HP:0040282	ORPHA:746
3030	HADHA	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:5
3030	HADHA	HP:0001270	Motor delay	HP:0040283	ORPHA:746
3030	HADHA	HP:0001284	Areflexia	HP:0040281	ORPHA:746
3030	HADHA	HP:0001284	Areflexia	7/9	OMIM:609015
3030	HADHA	HP:0001254	Lethargy	HP:0040282	ORPHA:746
3030	HADHA	HP:0001254	Lethargy	9/15	OMIM:609015
3030	HADHA	HP:0001250	Seizure	HP:0040283	ORPHA:746
3030	HADHA	HP:0001250	Seizure	HP:0040283	ORPHA:5
3030	HADHA	HP:0001252	Hypotonia	HP:0040282	ORPHA:746
3030	HADHA	HP:0001252	Hypotonia	HP:0040282	ORPHA:5
3030	HADHA	HP:0001252	Hypotonia	14/17	OMIM:609015
3030	HADHA	HP:0001252	Hypotonia	-	OMIM:609016
3030	HADHA	HP:0001249	Intellectual disability	HP:0040283	ORPHA:5
3030	HADHA	HP:0001263	Global developmental delay	HP:0040282	ORPHA:5
3030	HADHA	HP:0001263	Global developmental delay	-	OMIM:609015
3030	HADHA	HP:0001259	Coma	HP:0040283	ORPHA:746
3030	HADHA	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:746
3030	HADHA	HP:0001396	Cholestasis	HP:0040283	ORPHA:746
3030	HADHA	HP:0001396	Cholestasis	2/15	OMIM:609015
3030	HADHA	HP:0002686	Pregnancy history	-	OMIM:609015
3030	HADHA	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:746
3030	HADHA	HP:0001324	Muscle weakness	HP:0040282	ORPHA:746
3030	HADHA	HP:0000007	Autosomal recessive inheritance	-	OMIM:609015
3030	HADHA	HP:0000007	Autosomal recessive inheritance	-	OMIM:609016
3030	HADHA	HP:0002611	Cholestatic liver disease	HP:0040283	ORPHA:5
3030	HADHA	HP:0002033	Poor suck	HP:0040282	ORPHA:746
3030	HADHA	HP:0003326	Myalgia	HP:0040283	ORPHA:746
3030	HADHA	HP:0003326	Myalgia	-	OMIM:609015
3030	HADHA	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:746
3030	HADHA	HP:0003324	Generalized muscle weakness	-	OMIM:609015
3030	HADHA	HP:0011808	Decreased patellar reflex	HP:0040282	ORPHA:746
3030	HADHA	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:746
3030	HADHA	HP:0002093	Respiratory insufficiency	-	OMIM:609015
3030	HADHA	HP:0003394	Muscle spasm	HP:0040282	ORPHA:746
3030	HADHA	HP:0003394	Muscle spasm	5/15	OMIM:609015
3030	HADHA	HP:0008138	Equinus calcaneus	HP:0040283	ORPHA:746
3030	HADHA	HP:0008110	Equinovarus deformity	HP:0040283	ORPHA:746
3030	HADHA	HP:0003487	Babinski sign	HP:0040283	ORPHA:746
3030	HADHA	HP:0003593	Infantile onset	11/21	OMIM:609015
3030	HADHA	HP:0002240	Hepatomegaly	-	OMIM:609016
3030	HADHA	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:5
3030	HADHA	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:746
3030	HADHA	HP:0003546	Exercise intolerance	HP:0040281	ORPHA:746
3030	HADHA	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:5
3030	HADHA	HP:0011968	Feeding difficulties	9/10	OMIM:609015
3030	HADHA	HP:0007067	Distal peripheral sensory neuropathy	HP:0040284	ORPHA:746
3030	HADHA	HP:0002359	Frequent falls	HP:0040283	ORPHA:746
3030	HADHA	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:746
3030	HADHA	HP:0009830	Peripheral neuropathy	11/14	OMIM:609015
3030	HADHA	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:5
3030	HADHA	HP:0100626	Chronic hepatic failure	HP:0040282	ORPHA:746
3030	HADHA	HP:0007141	Sensorimotor neuropathy	HP:0040284	ORPHA:746
3030	HADHA	HP:0003623	Neonatal onset	10/21	OMIM:609015
3030	HADHA	HP:6001023	Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblasts	1/1	OMIM:609015
3030	HADHA	HP:6001024	Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts	1/1	OMIM:609015
3030	HADHA	HP:0000613	Photophobia	HP:0040281	ORPHA:5
3030	HADHA	HP:0001943	Hypoglycemia	-	OMIM:609016
3030	HADHA	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:5
3030	HADHA	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040282	ORPHA:5
3030	HADHA	HP:0009063	Progressive distal muscle weakness	HP:0040282	ORPHA:746
3030	HADHA	HP:0000662	Nyctalopia	HP:0040283	ORPHA:5
3030	HADHA	HP:0001987	Hyperammonemia	8/15	OMIM:609015
3030	HADHA	HP:0001985	Hypoketotic hypoglycemia	HP:0040281	ORPHA:5
3030	HADHA	HP:0001985	Hypoketotic hypoglycemia	HP:0040282	ORPHA:746
3030	HADHA	HP:0001985	Hypoketotic hypoglycemia	-	OMIM:609015
3030	HADHA	HP:0031956	Elevated circulating aspartate aminotransferase concentration	7/15	OMIM:609015
3030	HADHA	HP:0003198	Myopathy	-	OMIM:609015
3030	HADHA	HP:0003128	Lactic acidosis	13/17	OMIM:609015
3030	HADHA	HP:0000829	Hypoparathyroidism	HP:0040283	ORPHA:746
3030	HADHA	HP:0003236	Elevated circulating creatine kinase concentration	7/8	OMIM:609015
3030	HADHA	HP:0030856	Posterior staphyloma	HP:0040283	ORPHA:5
3030	HADHA	HP:0003201	Rhabdomyolysis	HP:0040281	ORPHA:746
3030	HADHA	HP:0003201	Rhabdomyolysis	-	OMIM:609015
3030	HADHA	HP:0045045	Elevated circulating acylcarnitine concentration	12/12	OMIM:609015
3030	HADHA	HP:0011675	Arrhythmia	HP:0040283	ORPHA:746
3030	HADHA	HP:0011675	Arrhythmia	2/17	OMIM:609015
3030	HADHA	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:5
3030	HADHA	HP:0002878	Respiratory failure	HP:0040283	ORPHA:746
3030	HADHA	HP:0002878	Respiratory failure	-	OMIM:609015
3030	HADHA	HP:0001560	Abnormality of the amniotic fluid	-	OMIM:609015
3030	HADHA	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:746
3030	HADHA	HP:0001508	Failure to thrive	HP:0040283	ORPHA:5
3030	HADHA	HP:0001508	Failure to thrive	7/10	OMIM:609015
3030	HADHA	HP:0001518	Small for gestational age	-	OMIM:609015
3030	HADHA	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:746
3030	HADHA	HP:0006555	Diffuse hepatic steatosis	HP:0040282	ORPHA:746
3030	HADHA	HP:0002913	Myoglobinuria	-	OMIM:609015
3030	HADHA	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:609015
3030	HADHA	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:746
3030	HADHA	HP:0002901	Hypocalcemia	HP:0040282	ORPHA:746
3030	HADHA	HP:0001699	Sudden death	-	OMIM:609016
3030	HADHA	HP:0001644	Dilated cardiomyopathy	8/11	OMIM:609015
3030	HADHA	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:746
3030	HADHA	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:5
3030	HADHA	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:746
3030	HADHA	HP:0001635	Congestive heart failure	-	OMIM:609015
3030	HADHA	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:746
3030	HADHA	HP:0001638	Cardiomyopathy	-	OMIM:609016
3030	HADHA	HP:0001712	Left ventricular hypertrophy	HP:0040282	ORPHA:746
3030	HADHA	HP:0000488	Retinopathy	HP:0040283	ORPHA:5
3030	HADHA	HP:0001789	Hydrops fetalis	-	OMIM:609015
3030	HADHA	HP:0001761	Pes cavus	HP:0040283	ORPHA:746
3030	HADHA	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:5
3030	HADHA	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:746
3030	HADHA	HP:0000580	Pigmentary retinopathy	2/16	OMIM:609015
3030	HADHA	HP:0000580	Pigmentary retinopathy	-	OMIM:609016
3030	HADHA	HP:0000577	Exotropia	HP:0040282	ORPHA:5
3030	HADHA	HP:0000572	Visual loss	HP:0040282	ORPHA:5
3030	HADHA	HP:0000532	Abnormal chorioretinal morphology	HP:0040283	ORPHA:5
3030	HADHA	HP:0000533	Chorioretinal atrophy	HP:0040283	ORPHA:5
3030	HADHA	HP:0000545	Myopia	HP:0040283	ORPHA:5
3032	HADHB	HP:0025145	Rigors	HP:0040284	ORPHA:746
3032	HADHB	HP:0002476	Primitive reflex	HP:0040284	ORPHA:746
3032	HADHB	HP:0003756	Skeletal myopathy	HP:0040282	ORPHA:746
3032	HADHB	HP:0001270	Motor delay	HP:0040283	ORPHA:746
3032	HADHB	HP:0001284	Areflexia	HP:0040281	ORPHA:746
3032	HADHB	HP:0001254	Lethargy	HP:0040282	ORPHA:746
3032	HADHB	HP:0001250	Seizure	HP:0040283	ORPHA:746
3032	HADHB	HP:0001250	Seizure	1/1	OMIM:620300
3032	HADHB	HP:0001252	Hypotonia	HP:0040282	ORPHA:746
3032	HADHB	HP:0001263	Global developmental delay	2/3	OMIM:620300
3032	HADHB	HP:0001259	Coma	HP:0040283	ORPHA:746
3032	HADHB	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:746
3032	HADHB	HP:0003811	Neonatal death	1/5	OMIM:620300
3032	HADHB	HP:0001396	Cholestasis	HP:0040283	ORPHA:746
3032	HADHB	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:746
3032	HADHB	HP:0031185	Increased circulating NT-proBNP concentration	1/1	OMIM:620300
3032	HADHB	HP:0001324	Muscle weakness	HP:0040282	ORPHA:746
3032	HADHB	HP:0001342	Cerebral hemorrhage	1/1	OMIM:620300
3032	HADHB	HP:0000007	Autosomal recessive inheritance	-	OMIM:620300
3032	HADHB	HP:0002615	Hypotension	1/1	OMIM:620300
3032	HADHB	HP:0002033	Poor suck	HP:0040282	ORPHA:746
3032	HADHB	HP:0003326	Myalgia	1/3	OMIM:620300
3032	HADHB	HP:0003326	Myalgia	HP:0040283	ORPHA:746
3032	HADHB	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:746
3032	HADHB	HP:0011808	Decreased patellar reflex	HP:0040282	ORPHA:746
3032	HADHB	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:746
3032	HADHB	HP:0002069	Bilateral tonic-clonic seizure	1/5	OMIM:620300
3032	HADHB	HP:0003394	Muscle spasm	HP:0040282	ORPHA:746
3032	HADHB	HP:0008138	Equinus calcaneus	HP:0040283	ORPHA:746
3032	HADHB	HP:0008110	Equinovarus deformity	HP:0040283	ORPHA:746
3032	HADHB	HP:0003487	Babinski sign	HP:0040283	ORPHA:746
3032	HADHB	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:620300
3032	HADHB	HP:0003593	Infantile onset	2/20	OMIM:620300
3032	HADHB	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:746
3032	HADHB	HP:0003546	Exercise intolerance	HP:0040281	ORPHA:746
3032	HADHB	HP:0007067	Distal peripheral sensory neuropathy	HP:0040284	ORPHA:746
3032	HADHB	HP:0002359	Frequent falls	HP:0040283	ORPHA:746
3032	HADHB	HP:0003652	Recurrent myoglobinuria	15/15	OMIM:620300
3032	HADHB	HP:0009830	Peripheral neuropathy	7/13	OMIM:620300
3032	HADHB	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:746
3032	HADHB	HP:0100626	Chronic hepatic failure	HP:0040282	ORPHA:746
3032	HADHB	HP:0007141	Sensorimotor neuropathy	HP:0040284	ORPHA:746
3032	HADHB	HP:0003623	Neonatal onset	8/21	OMIM:620300
3032	HADHB	HP:0003621	Juvenile onset	1/5	OMIM:620300
3032	HADHB	HP:0001943	Hypoglycemia	10/21	OMIM:620300
3032	HADHB	HP:0001942	Metabolic acidosis	3/6	OMIM:620300
3032	HADHB	HP:0009063	Progressive distal muscle weakness	HP:0040282	ORPHA:746
3032	HADHB	HP:0001987	Hyperammonemia	2/5	OMIM:620300
3032	HADHB	HP:0001985	Hypoketotic hypoglycemia	HP:0040282	ORPHA:746
3032	HADHB	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:620300
3032	HADHB	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:620300
3032	HADHB	HP:0011463	Childhood onset	10/20	OMIM:620300
3032	HADHB	HP:0000829	Hypoparathyroidism	HP:0040283	ORPHA:746
3032	HADHB	HP:0003236	Elevated circulating creatine kinase concentration	1/3	OMIM:620300
3032	HADHB	HP:0003201	Rhabdomyolysis	HP:0040281	ORPHA:746
3032	HADHB	HP:4000141	Left ventricular dilatation	1/1	OMIM:620300
3032	HADHB	HP:0011675	Arrhythmia	HP:0040283	ORPHA:746
3032	HADHB	HP:0002878	Respiratory failure	HP:0040283	ORPHA:746
3032	HADHB	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:746
3032	HADHB	HP:0001522	Death in infancy	1/5	OMIM:620300
3032	HADHB	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:746
3032	HADHB	HP:0006555	Diffuse hepatic steatosis	HP:0040282	ORPHA:746
3032	HADHB	HP:0002913	Myoglobinuria	1/5	OMIM:620300
3032	HADHB	HP:0005180	Tricuspid regurgitation	1/1	OMIM:620300
3032	HADHB	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:746
3032	HADHB	HP:0002901	Hypocalcemia	HP:0040282	ORPHA:746
3032	HADHB	HP:0001644	Dilated cardiomyopathy	7/20	OMIM:620300
3032	HADHB	HP:0001653	Mitral regurgitation	1/1	OMIM:620300
3032	HADHB	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:746
3032	HADHB	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:746
3032	HADHB	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:746
3032	HADHB	HP:0001712	Left ventricular hypertrophy	HP:0040282	ORPHA:746
3032	HADHB	HP:0001761	Pes cavus	HP:0040283	ORPHA:746
3032	HADHB	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:746
3033	HADH	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	-	OMIM:231530
3033	HADH	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	HP:0040280	ORPHA:71212
3033	HADH	HP:0001290	Generalized hypotonia	-	OMIM:231530
3033	HADH	HP:0001270	Motor delay	HP:0040283	ORPHA:71212
3033	HADH	HP:0001289	Confusion	HP:0040281	ORPHA:71212
3033	HADH	HP:0001254	Lethargy	HP:0040281	ORPHA:71212
3033	HADH	HP:0001252	Hypotonia	-	OMIM:231530
3033	HADH	HP:0001252	Hypotonia	1/2	OMIM:609975
3033	HADH	HP:0001249	Intellectual disability	-	OMIM:609975
3033	HADH	HP:0012071	Abnormal circulating acylcarnitine concentration	HP:0040281	ORPHA:71212
3033	HADH	HP:0001397	Hepatic steatosis	-	OMIM:231530
3033	HADH	HP:0001397	Hepatic steatosis	HP:0040281	ORPHA:71212
3033	HADH	HP:0008872	Feeding difficulties in infancy	-	OMIM:231530
3033	HADH	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:71212
3033	HADH	HP:0001325	Hypoglycemic coma	-	OMIM:609975
3033	HADH	HP:0000007	Autosomal recessive inheritance	-	OMIM:609975
3033	HADH	HP:0000007	Autosomal recessive inheritance	-	OMIM:231530
3033	HADH	HP:0001319	Neonatal hypotonia	HP:0040281	ORPHA:71212
3033	HADH	HP:0002605	Hepatic necrosis	-	OMIM:231530
3033	HADH	HP:0002605	Hepatic necrosis	HP:0040284	ORPHA:71212
3033	HADH	HP:0002014	Diarrhea	HP:0040281	ORPHA:71212
3033	HADH	HP:0002013	Vomiting	HP:0040281	ORPHA:71212
3033	HADH	HP:0008180	Mildly elevated creatine kinase	HP:0040283	ORPHA:71212
3033	HADH	HP:0008151	Prolonged prothrombin time	HP:0040283	ORPHA:71212
3033	HADH	HP:0002173	Hypoglycemic seizures	-	OMIM:231530
3033	HADH	HP:0002173	Hypoglycemic seizures	HP:0040281	ORPHA:71212
3033	HADH	HP:0002173	Hypoglycemic seizures	1/2	OMIM:609975
3033	HADH	HP:0008283	Fasting hyperinsulinemia	HP:0040281	ORPHA:71212
3033	HADH	HP:0011968	Feeding difficulties	1/1	OMIM:609975
3033	HADH	HP:0003508	Proportionate short stature	HP:0040281	ORPHA:71212
3033	HADH	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:71212
3033	HADH	HP:0003623	Neonatal onset	3/3	OMIM:609975
3033	HADH	HP:0001987	Hyperammonemia	HP:0040283	ORPHA:71212
3033	HADH	HP:0001985	Hypoketotic hypoglycemia	-	OMIM:231530
3033	HADH	HP:0001985	Hypoketotic hypoglycemia	HP:0040281	ORPHA:71212
3033	HADH	HP:0001998	Neonatal hypoglycemia	HP:0040281	ORPHA:71212
3033	HADH	HP:0006929	Hypoglycemic encephalopathy	-	OMIM:231530
3033	HADH	HP:0006929	Hypoglycemic encephalopathy	HP:0040281	ORPHA:71212
3033	HADH	HP:0004448	Fulminant hepatic failure	-	OMIM:231530
3033	HADH	HP:0030781	Increased circulating free fatty acid level	HP:0040281	ORPHA:71212
3033	HADH	HP:0030796	Increased C-peptide level	HP:0040281	ORPHA:71212
3033	HADH	HP:0003128	Lactic acidosis	HP:0040283	ORPHA:71212
3033	HADH	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040281	ORPHA:71212
3033	HADH	HP:0000825	Hyperinsulinemic hypoglycemia	3/3	OMIM:609975
3033	HADH	HP:0003234	Decreased circulating carnitine concentration	HP:0040283	ORPHA:71212
3033	HADH	HP:0003215	Dicarboxylic aciduria	-	OMIM:231530
3033	HADH	HP:0003215	Dicarboxylic aciduria	HP:0040281	ORPHA:71212
3033	HADH	HP:0001508	Failure to thrive	HP:0040283	ORPHA:71212
3033	HADH	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:71212
3033	HADH	HP:0001510	Growth delay	-	OMIM:231530
3033	HADH	HP:0006554	Acute hepatic failure	HP:0040284	ORPHA:71212
3033	HADH	HP:0002913	Myoglobinuria	-	OMIM:231530
3033	HADH	HP:0002913	Myoglobinuria	HP:0040284	ORPHA:71212
3033	HADH	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:71212
3033	HADH	HP:0001644	Dilated cardiomyopathy	-	OMIM:231530
3033	HADH	HP:0001644	Dilated cardiomyopathy	HP:0040284	ORPHA:71212
3033	HADH	HP:0001657	Prolonged QT interval	HP:0040284	ORPHA:71212
3033	HADH	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:231530
3033	HADH	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:71212
3033	HADH	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:71212
3034	HAL	HP:0010906	Hyperhistidinemia	50/50	OMIM:235800
3034	HAL	HP:0010906	Hyperhistidinemia	HP:0040280	ORPHA:2157
3034	HAL	HP:6000621	Elevated urinary N-tau-ribosylhistidine level	-	OMIM:235800
3034	HAL	HP:0001249	Intellectual disability	0/104	OMIM:235800
3034	HAL	HP:0001328	Specific learning disability	HP:0040284	ORPHA:2157
3034	HAL	HP:0000007	Autosomal recessive inheritance	-	OMIM:235800
3034	HAL	HP:0000006	Autosomal dominant inheritance	-	OMIM:235800
3034	HAL	HP:0002167	Abnormal speech pattern	HP:0040284	ORPHA:2157
3034	HAL	HP:0011343	Moderate global developmental delay	HP:0040284	ORPHA:2157
3034	HAL	HP:0000752	Hyperactivity	HP:0040284	ORPHA:2157
3034	HAL	HP:0000708	Atypical behavior	HP:0040284	ORPHA:2157
3034	HAL	HP:0002927	Histidinuria	-	OMIM:235800
3034	HAL	HP:0002927	Histidinuria	HP:0040280	ORPHA:2157
3035	HARS1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
3035	HARS1	HP:0002460	Distal muscle weakness	-	OMIM:616625
3035	HARS1	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:488333
3035	HARS1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:488333
3035	HARS1	HP:0001288	Gait disturbance	-	OMIM:616625
3035	HARS1	HP:0001251	Ataxia	HP:0040282	ORPHA:231183
3035	HARS1	HP:0003828	Variable expressivity	-	OMIM:616625
3035	HARS1	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:488333
3035	HARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
3035	HARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614504
3035	HARS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
3035	HARS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616625
3035	HARS1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
3035	HARS1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
3035	HARS1	HP:0008959	Distal upper limb muscle weakness	HP:0040281	ORPHA:488333
3035	HARS1	HP:0008954	Intrinsic hand muscle atrophy	HP:0040283	ORPHA:488333
3035	HARS1	HP:0002078	Truncal ataxia	3/3	OMIM:614504
3035	HARS1	HP:0003376	Steppage gait	HP:0040282	ORPHA:488333
3035	HARS1	HP:0003376	Steppage gait	-	OMIM:616625
3035	HARS1	HP:0003474	Somatic sensory dysfunction	HP:0040281	ORPHA:488333
3035	HARS1	HP:0003438	Absent Achilles reflex	HP:0040283	ORPHA:488333
3035	HARS1	HP:0003438	Absent Achilles reflex	-	OMIM:616625
3035	HARS1	HP:0002194	Delayed gross motor development	3/3	OMIM:614504
3035	HARS1	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040281	ORPHA:488333
3035	HARS1	HP:0100753	Schizophrenia	HP:0040283	ORPHA:231183
3035	HARS1	HP:0007002	Motor axonal neuropathy	HP:0040282	ORPHA:488333
3035	HARS1	HP:0007083	Hyperactive patellar reflex	3/3	OMIM:614504
3035	HARS1	HP:0007083	Hyperactive patellar reflex	-	OMIM:616625
3035	HARS1	HP:0003693	Distal amyotrophy	-	OMIM:616625
3035	HARS1	HP:0009830	Peripheral neuropathy	-	OMIM:616625
3035	HARS1	HP:0008499	High hypermetropia	HP:0040282	ORPHA:231183
3035	HARS1	HP:0007108	Demyelinating peripheral neuropathy	HP:0040281	ORPHA:488333
3035	HARS1	HP:0003621	Juvenile onset	8/19	OMIM:180100
3035	HARS1	HP:0000613	Photophobia	3/3	OMIM:614504
3035	HARS1	HP:0009053	Distal lower limb muscle weakness	HP:0040281	ORPHA:488333
3035	HARS1	HP:0000662	Nyctalopia	26/28	OMIM:180100
3035	HARS1	HP:0000662	Nyctalopia	HP:0040281	ORPHA:231183
3035	HARS1	HP:0000666	Horizontal nystagmus	3/3	OMIM:614504
3035	HARS1	HP:0006937	Impaired distal tactile sensation	HP:0040283	ORPHA:488333
3035	HARS1	HP:0000738	Hallucinations	HP:0040283	ORPHA:231183
3035	HARS1	HP:0000739	Anxiety	HP:0040283	ORPHA:231183
3035	HARS1	HP:0000716	Depression	HP:0040283	ORPHA:231183
3035	HARS1	HP:0011463	Childhood onset	3/19	OMIM:180100
3035	HARS1	HP:0011463	Childhood onset	3/3	OMIM:614504
3035	HARS1	HP:0011462	Young adult onset	8/19	OMIM:180100
3035	HARS1	HP:0003100	Slender long bone	HP:0040283	ORPHA:488333
3035	HARS1	HP:0011504	Bull's eye maculopathy	3/3	OMIM:614504
3035	HARS1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
3035	HARS1	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:231183
3035	HARS1	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:488333
3035	HARS1	HP:0007843	Attenuation of retinal blood vessels	3/3	OMIM:614504
3035	HARS1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
3035	HARS1	HP:0012377	Hemianopia	HP:0040281	ORPHA:231183
3035	HARS1	HP:0002936	Distal sensory impairment	-	OMIM:616625
3035	HARS1	HP:0000365	Hearing impairment	3/3	OMIM:614504
3035	HARS1	HP:0000375	Abnormal cochlea morphology	HP:0040281	ORPHA:231183
3035	HARS1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:231183
3035	HARS1	HP:0000483	Astigmatism	HP:0040282	ORPHA:231183
3035	HARS1	HP:0030237	Hand muscle weakness	HP:0040283	ORPHA:488333
3035	HARS1	HP:0001765	Hammertoe	HP:0040283	ORPHA:488333
3035	HARS1	HP:0001765	Hammertoe	-	OMIM:616625
3035	HARS1	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:488333
3035	HARS1	HP:0001761	Pes cavus	HP:0040282	ORPHA:488333
3035	HARS1	HP:0001761	Pes cavus	-	OMIM:616625
3035	HARS1	HP:0001756	Vestibular hyporeflexia	HP:0040281	ORPHA:231183
3035	HARS1	HP:0000518	Cataract	HP:0040282	ORPHA:231183
3035	HARS1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
3035	HARS1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:231183
3035	HARS1	HP:0000505	Visual impairment	3/3	OMIM:614504
3035	HARS1	HP:0000575	Scotoma	5/18	OMIM:180100
3035	HARS1	HP:0000575	Scotoma	HP:0040281	ORPHA:231183
3035	HARS1	HP:0000572	Visual loss	HP:0040281	ORPHA:231183
3035	HARS1	HP:0012531	Pain	HP:0040283	ORPHA:488333
3035	HARS1	HP:0000543	Optic disc pallor	3/3	OMIM:614504
3035	HARS1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
3035	HARS1	HP:0000545	Myopia	-	OMIM:180100
3039	HBA1	HP:0009906	Aplasia/Hypoplasia of the earlobes	HP:0040282	ORPHA:98791
3039	HBA1	HP:0009891	Underdeveloped supraorbital ridges	HP:0040283	ORPHA:98791
3039	HBA1	HP:0001252	Hypotonia	HP:0040282	ORPHA:98791
3039	HBA1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:98791
3039	HBA1	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040283	ORPHA:98791
3039	HBA1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:98791
3039	HBA1	HP:0000047	Hypospadias	HP:0040283	ORPHA:98791
3039	HBA1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:98791
3039	HBA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:140700
3039	HBA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617973
3039	HBA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617981
3039	HBA1	HP:0012119	Methemoglobinemia	-	OMIM:617973
3039	HBA1	HP:0002007	Frontal bossing	HP:0040283	ORPHA:98791
3039	HBA1	HP:0011907	Reduced alpha/beta synthesis ratio	-	OMIM:604131
3039	HBA1	HP:0011907	Reduced alpha/beta synthesis ratio	-	OMIM:613978
3039	HBA1	HP:0011902	Abnormal hemoglobin	HP:0040281	ORPHA:163596
3039	HBA1	HP:0011903	HbH hemoglobin	HP:0040281	ORPHA:98791
3039	HBA1	HP:0011903	HbH hemoglobin	-	OMIM:613978
3039	HBA1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:98791
3039	HBA1	HP:0003577	Congenital onset	-	OMIM:617973
3039	HBA1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:163596
3039	HBA1	HP:0002240	Hepatomegaly	-	OMIM:613978
3039	HBA1	HP:0004840	Hypochromic microcytic anemia	-	OMIM:604131
3039	HBA1	HP:0020082	Heinz bodies	-	OMIM:140700
3039	HBA1	HP:0100602	Preeclampsia	HP:0040282	ORPHA:163596
3039	HBA1	HP:0005511	Heinz body anemia	-	OMIM:140700
3039	HBA1	HP:0001935	Microcytic anemia	HP:0040281	ORPHA:98791
3039	HBA1	HP:0001930	Nonspherocytic hemolytic anemia	-	OMIM:140700
3039	HBA1	HP:0001903	Anemia	HP:0040281	ORPHA:163596
3039	HBA1	HP:0001900	Increased circulating hemoglobin concentration	-	OMIM:617981
3039	HBA1	HP:0001901	Polycythemia	-	OMIM:617981
3039	HBA1	HP:0004322	Short stature	HP:0040282	ORPHA:98791
3039	HBA1	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:98791
3039	HBA1	HP:0000980	Pallor	HP:0040281	ORPHA:163596
3039	HBA1	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:98791
3039	HBA1	HP:0000961	Cyanosis	-	OMIM:617973
3039	HBA1	HP:0000286	Epicanthus	HP:0040282	ORPHA:98791
3039	HBA1	HP:0000278	Retrognathia	HP:0040282	ORPHA:98791
3039	HBA1	HP:0000272	Malar flattening	HP:0040282	ORPHA:98791
3039	HBA1	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:163596
3039	HBA1	HP:0000252	Microcephaly	HP:0040282	ORPHA:98791
3039	HBA1	HP:0000218	High palate	HP:0040282	ORPHA:98791
3039	HBA1	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:163596
3039	HBA1	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:163596
3039	HBA1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:98791
3039	HBA1	HP:0012378	Fatigue	HP:0040281	ORPHA:98791
3039	HBA1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:98791
3039	HBA1	HP:0000337	Broad forehead	HP:0040282	ORPHA:98791
3039	HBA1	HP:0000348	High forehead	HP:0040282	ORPHA:98791
3039	HBA1	HP:0000347	Micrognathia	HP:0040282	ORPHA:98791
3039	HBA1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:98791
3039	HBA1	HP:0001635	Congestive heart failure	HP:0040281	ORPHA:163596
3039	HBA1	HP:0001701	Pericarditis	HP:0040283	ORPHA:163596
3039	HBA1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:98791
3039	HBA1	HP:0001789	Hydrops fetalis	HP:0040281	ORPHA:163596
3039	HBA1	HP:0000470	Short neck	HP:0040282	ORPHA:98791
3039	HBA1	HP:0001744	Splenomegaly	HP:0040282	ORPHA:163596
3039	HBA1	HP:0001744	Splenomegaly	-	OMIM:613978
3039	HBA1	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:98791
3039	HBA1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:98791
3039	HBA1	HP:0001831	Short toe	HP:0040282	ORPHA:98791
3039	HBA1	HP:0001899	Increased hematocrit	-	OMIM:617981
3039	HBA1	HP:0001878	Hemolytic anemia	-	OMIM:613978
3040	HBA2	HP:0009906	Aplasia/Hypoplasia of the earlobes	HP:0040282	ORPHA:98791
3040	HBA2	HP:0009891	Underdeveloped supraorbital ridges	HP:0040283	ORPHA:98791
3040	HBA2	HP:0001252	Hypotonia	HP:0040282	ORPHA:98791
3040	HBA2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:98791
3040	HBA2	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040283	ORPHA:98791
3040	HBA2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:98791
3040	HBA2	HP:0000047	Hypospadias	HP:0040283	ORPHA:98791
3040	HBA2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:98791
3040	HBA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:140700
3040	HBA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617981
3040	HBA2	HP:0002007	Frontal bossing	HP:0040283	ORPHA:98791
3040	HBA2	HP:0011907	Reduced alpha/beta synthesis ratio	-	OMIM:604131
3040	HBA2	HP:0011907	Reduced alpha/beta synthesis ratio	-	OMIM:613978
3040	HBA2	HP:0011902	Abnormal hemoglobin	HP:0040281	ORPHA:163596
3040	HBA2	HP:0011903	HbH hemoglobin	HP:0040281	ORPHA:98791
3040	HBA2	HP:0011903	HbH hemoglobin	-	OMIM:613978
3040	HBA2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:98791
3040	HBA2	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:163596
3040	HBA2	HP:0002240	Hepatomegaly	-	OMIM:613978
3040	HBA2	HP:0004840	Hypochromic microcytic anemia	-	OMIM:604131
3040	HBA2	HP:0020082	Heinz bodies	-	OMIM:140700
3040	HBA2	HP:0100602	Preeclampsia	HP:0040282	ORPHA:163596
3040	HBA2	HP:0005511	Heinz body anemia	-	OMIM:140700
3040	HBA2	HP:0001935	Microcytic anemia	HP:0040281	ORPHA:98791
3040	HBA2	HP:0001930	Nonspherocytic hemolytic anemia	-	OMIM:140700
3040	HBA2	HP:0001903	Anemia	HP:0040281	ORPHA:163596
3040	HBA2	HP:0001900	Increased circulating hemoglobin concentration	-	OMIM:617981
3040	HBA2	HP:0001901	Polycythemia	-	OMIM:617981
3040	HBA2	HP:0004322	Short stature	HP:0040282	ORPHA:98791
3040	HBA2	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:98791
3040	HBA2	HP:0000980	Pallor	HP:0040281	ORPHA:163596
3040	HBA2	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:98791
3040	HBA2	HP:0000286	Epicanthus	HP:0040282	ORPHA:98791
3040	HBA2	HP:0000278	Retrognathia	HP:0040282	ORPHA:98791
3040	HBA2	HP:0000272	Malar flattening	HP:0040282	ORPHA:98791
3040	HBA2	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:163596
3040	HBA2	HP:0000252	Microcephaly	HP:0040282	ORPHA:98791
3040	HBA2	HP:0000218	High palate	HP:0040282	ORPHA:98791
3040	HBA2	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:163596
3040	HBA2	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:163596
3040	HBA2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:98791
3040	HBA2	HP:0012378	Fatigue	HP:0040281	ORPHA:98791
3040	HBA2	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:98791
3040	HBA2	HP:0000337	Broad forehead	HP:0040282	ORPHA:98791
3040	HBA2	HP:0000348	High forehead	HP:0040282	ORPHA:98791
3040	HBA2	HP:0000347	Micrognathia	HP:0040282	ORPHA:98791
3040	HBA2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:98791
3040	HBA2	HP:0001635	Congestive heart failure	HP:0040281	ORPHA:163596
3040	HBA2	HP:0001701	Pericarditis	HP:0040283	ORPHA:163596
3040	HBA2	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:98791
3040	HBA2	HP:0001789	Hydrops fetalis	HP:0040281	ORPHA:163596
3040	HBA2	HP:0000470	Short neck	HP:0040282	ORPHA:98791
3040	HBA2	HP:0001744	Splenomegaly	HP:0040282	ORPHA:163596
3040	HBA2	HP:0001744	Splenomegaly	-	OMIM:613978
3040	HBA2	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:98791
3040	HBA2	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:98791
3040	HBA2	HP:0001831	Short toe	HP:0040282	ORPHA:98791
3040	HBA2	HP:0001899	Increased hematocrit	-	OMIM:617981
3040	HBA2	HP:0001878	Hemolytic anemia	-	OMIM:613978
3043	HBB	HP:0010885	Avascular necrosis	HP:0040282	ORPHA:232
3043	HBB	HP:0032231	Hypochromia	HP:0040281	ORPHA:2133
3043	HBB	HP:0001297	Stroke	-	OMIM:603903
3043	HBB	HP:0002597	Abnormality of the vasculature	HP:0040283	ORPHA:232
3043	HBB	HP:0031035	Chronic infection	HP:0040283	ORPHA:231226
3043	HBB	HP:0031035	Chronic infection	HP:0040283	ORPHA:231214
3043	HBB	HP:0031090	Finger dactylitis	HP:0040283	ORPHA:232
3043	HBB	HP:0010972	Anemia of inadequate production	HP:0040281	ORPHA:231222
3043	HBB	HP:0010972	Anemia of inadequate production	HP:0040281	ORPHA:231214
3043	HBB	HP:0010972	Anemia of inadequate production	HP:0040281	ORPHA:2133
3043	HBB	HP:0000083	Renal insufficiency	-	OMIM:603903
3043	HBB	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:231222
3043	HBB	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:231214
3043	HBB	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:231226
3043	HBB	HP:0001394	Cirrhosis	HP:0040283	ORPHA:231214
3043	HBB	HP:0001394	Cirrhosis	HP:0040284	ORPHA:231222
3043	HBB	HP:0001394	Cirrhosis	HP:0040283	ORPHA:231226
3043	HBB	HP:0025326	Retinal arterial occlusion	HP:0040283	ORPHA:232
3043	HBB	HP:0002659	Increased susceptibility to fractures	HP:0040282	ORPHA:231222
3043	HBB	HP:0000007	Autosomal recessive inheritance	-	OMIM:603903
3043	HBB	HP:0000006	Autosomal dominant inheritance	-	OMIM:140700
3043	HBB	HP:0000006	Autosomal dominant inheritance	-	OMIM:603902
3043	HBB	HP:0000006	Autosomal dominant inheritance	-	OMIM:141749
3043	HBB	HP:0000006	Autosomal dominant inheritance	-	OMIM:617971
3043	HBB	HP:0000006	Autosomal dominant inheritance	-	OMIM:617980
3043	HBB	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:231214
3043	HBB	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:231226
3043	HBB	HP:0012132	Erythroid hyperplasia	HP:0040282	ORPHA:231222
3043	HBB	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:232
3043	HBB	HP:0000135	Hypogonadism	HP:0040284	ORPHA:231222
3043	HBB	HP:0012119	Methemoglobinemia	-	OMIM:617971
3043	HBB	HP:0000114	Proximal tubulopathy	HP:0040283	ORPHA:231222
3043	HBB	HP:0002754	Osteomyelitis	HP:0040282	ORPHA:232
3043	HBB	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:231214
3043	HBB	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:231222
3043	HBB	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:231226
3043	HBB	HP:0001410	Decreased liver function	HP:0040283	ORPHA:231222
3043	HBB	HP:0001406	Intrahepatic cholestasis	HP:0040283	ORPHA:232
3043	HBB	HP:0001402	Hepatocellular carcinoma	HP:0040284	ORPHA:231214
3043	HBB	HP:0001402	Hepatocellular carcinoma	HP:0040284	ORPHA:231222
3043	HBB	HP:0001402	Hepatocellular carcinoma	HP:0040284	ORPHA:231226
3043	HBB	HP:0002719	Recurrent infections	HP:0040281	ORPHA:232
3043	HBB	HP:0002718	Recurrent bacterial infections	-	OMIM:603903
3043	HBB	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:231249
3043	HBB	HP:0002027	Abdominal pain	-	OMIM:603903
3043	HBB	HP:0002027	Abdominal pain	HP:0040283	ORPHA:251380
3043	HBB	HP:0002027	Abdominal pain	HP:0040284	ORPHA:90039
3043	HBB	HP:0003330	Abnormal bone structure	HP:0040282	ORPHA:46532
3043	HBB	HP:0002014	Diarrhea	HP:0040283	ORPHA:231214
3043	HBB	HP:0002014	Diarrhea	HP:0040283	ORPHA:231226
3043	HBB	HP:0002007	Frontal bossing	HP:0040283	ORPHA:231214
3043	HBB	HP:0002007	Frontal bossing	HP:0040284	ORPHA:231226
3043	HBB	HP:0002094	Dyspnea	HP:0040282	ORPHA:231214
3043	HBB	HP:0002094	Dyspnea	HP:0040283	ORPHA:231226
3043	HBB	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:232
3043	HBB	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:231222
3043	HBB	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:232
3043	HBB	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:251380
3043	HBB	HP:0011906	Reduced beta/alpha synthesis ratio	HP:0040282	ORPHA:90039
3043	HBB	HP:0011906	Reduced beta/alpha synthesis ratio	-	OMIM:613985
3043	HBB	HP:0011907	Reduced alpha/beta synthesis ratio	HP:0040282	ORPHA:90039
3043	HBB	HP:0011907	Reduced alpha/beta synthesis ratio	-	OMIM:604131
3043	HBB	HP:0011902	Abnormal hemoglobin	HP:0040281	ORPHA:231242
3043	HBB	HP:0011902	Abnormal hemoglobin	HP:0040281	ORPHA:90039
3043	HBB	HP:0011902	Abnormal hemoglobin	HP:0040281	ORPHA:2133
3043	HBB	HP:0011902	Abnormal hemoglobin	HP:0040281	ORPHA:231249
3043	HBB	HP:0011902	Abnormal hemoglobin	HP:0040281	ORPHA:231237
3043	HBB	HP:0011904	Persistence of hemoglobin F	HP:0040283	ORPHA:232
3043	HBB	HP:0011904	Persistence of hemoglobin F	-	OMIM:141749
3043	HBB	HP:0011904	Persistence of hemoglobin F	HP:0040281	ORPHA:231222
3043	HBB	HP:0011904	Persistence of hemoglobin F	HP:0040281	ORPHA:46532
3043	HBB	HP:0011904	Persistence of hemoglobin F	1/1	OMIM:603902
3043	HBB	HP:0011904	Persistence of hemoglobin F	HP:0040281	ORPHA:231226
3043	HBB	HP:0011904	Persistence of hemoglobin F	HP:0040281	ORPHA:231214
3043	HBB	HP:0011904	Persistence of hemoglobin F	HP:0040280	ORPHA:251380
3043	HBB	HP:0011905	Reduced hemoglobin A	HP:0040282	ORPHA:90039
3043	HBB	HP:0011905	Reduced hemoglobin A	HP:0040282	ORPHA:2133
3043	HBB	HP:0011905	Reduced hemoglobin A	HP:0040281	ORPHA:231226
3043	HBB	HP:0011905	Reduced hemoglobin A	HP:0040281	ORPHA:231214
3043	HBB	HP:0002176	Spinal cord compression	HP:0040284	ORPHA:231222
3043	HBB	HP:0011886	Hyphema	HP:0040283	ORPHA:232
3043	HBB	HP:0011842	Abnormal skeletal morphology	HP:0040283	ORPHA:231226
3043	HBB	HP:0011842	Abnormal skeletal morphology	HP:0040282	ORPHA:231214
3043	HBB	HP:0008282	Unconjugated hyperbilirubinemia	HP:0040283	ORPHA:232
3043	HBB	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:46532
3043	HBB	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:231214
3043	HBB	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:231222
3043	HBB	HP:0002240	Hepatomegaly	-	OMIM:603903
3043	HBB	HP:0002240	Hepatomegaly	1/1	OMIM:603902
3043	HBB	HP:0004870	Chronic hemolytic anemia	HP:0040280	ORPHA:232
3043	HBB	HP:0200123	Chronic hepatitis	HP:0040283	ORPHA:231226
3043	HBB	HP:0100724	Hypercoagulability	HP:0040282	ORPHA:231222
3043	HBB	HP:0100749	Chest pain	HP:0040282	ORPHA:232
3043	HBB	HP:0008346	Increased red cell sickling tendency	-	OMIM:603903
3043	HBB	HP:0008346	Increased red cell sickling tendency	HP:0040283	ORPHA:251380
3043	HBB	HP:0011981	Pigment gallstones	HP:0040282	ORPHA:232
3043	HBB	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:231214
3043	HBB	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:231226
3043	HBB	HP:0010620	Malar prominence	HP:0040284	ORPHA:231226
3043	HBB	HP:0010620	Malar prominence	HP:0040283	ORPHA:231214
3043	HBB	HP:0430028	Hyperplasia of the maxilla	HP:0040284	ORPHA:231226
3043	HBB	HP:0430028	Hyperplasia of the maxilla	HP:0040283	ORPHA:231214
3043	HBB	HP:0004840	Hypochromic microcytic anemia	HP:0040281	ORPHA:231214
3043	HBB	HP:0004840	Hypochromic microcytic anemia	HP:0040281	ORPHA:2133
3043	HBB	HP:0004840	Hypochromic microcytic anemia	-	OMIM:604131
3043	HBB	HP:0004840	Hypochromic microcytic anemia	HP:0040283	ORPHA:251380
3043	HBB	HP:0004840	Hypochromic microcytic anemia	HP:0040282	ORPHA:231226
3043	HBB	HP:0004840	Hypochromic microcytic anemia	-	OMIM:613985
3043	HBB	HP:0020082	Heinz bodies	-	OMIM:140700
3043	HBB	HP:0020080	Erythrocyte inclusion bodies	1/1	OMIM:603902
3043	HBB	HP:0004817	Drug-sensitive hemolytic anemia	HP:0040283	ORPHA:2133
3043	HBB	HP:0020059	Increased red blood cell count	HP:0040281	ORPHA:2133
3043	HBB	HP:0004823	Anisopoikilocytosis	HP:0040281	ORPHA:231214
3043	HBB	HP:0200023	Priapism	HP:0040283	ORPHA:232
3043	HBB	HP:0200023	Priapism	-	OMIM:603903
3043	HBB	HP:0025066	Decreased mean corpuscular volume	HP:0040281	ORPHA:231222
3043	HBB	HP:0025066	Decreased mean corpuscular volume	HP:0040282	ORPHA:231226
3043	HBB	HP:0025066	Decreased mean corpuscular volume	HP:0040281	ORPHA:231214
3043	HBB	HP:0025066	Decreased mean corpuscular volume	HP:0040282	ORPHA:90039
3043	HBB	HP:0025066	Decreased mean corpuscular volume	HP:0040281	ORPHA:2133
3043	HBB	HP:0200042	Skin ulcer	HP:0040283	ORPHA:232
3043	HBB	HP:0200042	Skin ulcer	HP:0040283	ORPHA:231214
3043	HBB	HP:0200042	Skin ulcer	HP:0040282	ORPHA:231222
3043	HBB	HP:0200042	Skin ulcer	HP:0040283	ORPHA:231226
3043	HBB	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:232
3043	HBB	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:231222
3043	HBB	HP:0001081	Cholelithiasis	-	OMIM:603903
3043	HBB	HP:0032169	Severe infection	HP:0040283	ORPHA:251380
3043	HBB	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:231214
3043	HBB	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:231226
3043	HBB	HP:0005546	Increased red cell osmotic resistance	HP:0040283	ORPHA:2133
3043	HBB	HP:0005511	Heinz body anemia	-	OMIM:140700
3043	HBB	HP:0005518	Increased mean corpuscular volume	HP:0040284	ORPHA:232
3043	HBB	HP:0005560	Imbalanced hemoglobin synthesis	HP:0040281	ORPHA:90039
3043	HBB	HP:0001971	Hypersplenism	HP:0040282	ORPHA:231226
3043	HBB	HP:0001971	Hypersplenism	HP:0040282	ORPHA:231214
3043	HBB	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:232
3043	HBB	HP:0001978	Extramedullary hematopoiesis	HP:0040282	ORPHA:231222
3043	HBB	HP:0001978	Extramedullary hematopoiesis	HP:0040282	ORPHA:231226
3043	HBB	HP:0001978	Extramedullary hematopoiesis	HP:0040282	ORPHA:231214
3043	HBB	HP:0001974	Increased total leukocyte count	-	OMIM:603903
3043	HBB	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:232
3043	HBB	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:231222
3043	HBB	HP:0001954	Recurrent fever	HP:0040283	ORPHA:231214
3043	HBB	HP:0001954	Recurrent fever	HP:0040283	ORPHA:231226
3043	HBB	HP:0001923	Reticulocytosis	HP:0040282	ORPHA:232
3043	HBB	HP:0001923	Reticulocytosis	HP:0040283	ORPHA:251380
3043	HBB	HP:0001935	Microcytic anemia	HP:0040284	ORPHA:232
3043	HBB	HP:0001935	Microcytic anemia	1/1	OMIM:603902
3043	HBB	HP:0001935	Microcytic anemia	HP:0040281	ORPHA:231237
3043	HBB	HP:0001935	Microcytic anemia	HP:0040281	ORPHA:231242
3043	HBB	HP:0001931	Hypochromic anemia	HP:0040284	ORPHA:232
3043	HBB	HP:0001930	Nonspherocytic hemolytic anemia	-	OMIM:140700
3043	HBB	HP:0001903	Anemia	HP:0040281	ORPHA:231237
3043	HBB	HP:0001903	Anemia	HP:0040281	ORPHA:231242
3043	HBB	HP:0001903	Anemia	HP:0040281	ORPHA:231249
3043	HBB	HP:0001903	Anemia	HP:0040281	ORPHA:46532
3043	HBB	HP:0001903	Anemia	HP:0040284	ORPHA:90039
3043	HBB	HP:0001900	Increased circulating hemoglobin concentration	17/17	OMIM:617980
3043	HBB	HP:0001901	Polycythemia	17/17	OMIM:617980
3043	HBB	HP:0009004	Hypoplasia of the musculature	HP:0040283	ORPHA:231226
3043	HBB	HP:0009004	Hypoplasia of the musculature	HP:0040282	ORPHA:231214
3043	HBB	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:231222
3043	HBB	HP:0000737	Irritability	HP:0040283	ORPHA:231214
3043	HBB	HP:0000737	Irritability	HP:0040283	ORPHA:231226
3043	HBB	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:232
3043	HBB	HP:0000790	Hematuria	-	OMIM:603903
3043	HBB	HP:0000924	Abnormality of the skeletal system	HP:0040282	ORPHA:231222
3043	HBB	HP:0034280	Target cells	-	OMIM:603903
3043	HBB	HP:0000846	Adrenal insufficiency	HP:0040284	ORPHA:231214
3043	HBB	HP:0000846	Adrenal insufficiency	HP:0040284	ORPHA:231222
3043	HBB	HP:0000846	Adrenal insufficiency	HP:0040284	ORPHA:231226
3043	HBB	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:231214
3043	HBB	HP:0000819	Diabetes mellitus	HP:0040284	ORPHA:231222
3043	HBB	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:231226
3043	HBB	HP:0000829	Hypoparathyroidism	HP:0040283	ORPHA:231214
3043	HBB	HP:0000829	Hypoparathyroidism	HP:0040284	ORPHA:231222
3043	HBB	HP:0000829	Hypoparathyroidism	HP:0040283	ORPHA:231226
3043	HBB	HP:0000822	Hypertension	-	OMIM:603903
3043	HBB	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:231214
3043	HBB	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:231222
3043	HBB	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:231226
3043	HBB	HP:0000823	Delayed puberty	HP:0040283	ORPHA:231214
3043	HBB	HP:0000823	Delayed puberty	HP:0040283	ORPHA:231226
3043	HBB	HP:0040075	Hypopituitarism	HP:0040283	ORPHA:231214
3043	HBB	HP:0040075	Hypopituitarism	HP:0040283	ORPHA:231226
3043	HBB	HP:0045047	HbS hemoglobin	HP:0040283	ORPHA:90039
3043	HBB	HP:0045047	HbS hemoglobin	HP:0040282	ORPHA:251380
3043	HBB	HP:0045048	Increased HbA2 hemoglobin	HP:0040282	ORPHA:90039
3043	HBB	HP:0045048	Increased HbA2 hemoglobin	HP:0040282	ORPHA:231222
3043	HBB	HP:0045048	Increased HbA2 hemoglobin	1/1	OMIM:603902
3043	HBB	HP:0003281	Increased circulating ferritin concentration	HP:0040282	ORPHA:231249
3043	HBB	HP:0003259	Elevated circulating creatinine concentration	HP:0040283	ORPHA:232
3043	HBB	HP:0000980	Pallor	HP:0040284	ORPHA:90039
3043	HBB	HP:0000980	Pallor	HP:0040281	ORPHA:46532
3043	HBB	HP:0000980	Pallor	HP:0040281	ORPHA:231214
3043	HBB	HP:0000980	Pallor	HP:0040282	ORPHA:231222
3043	HBB	HP:0000980	Pallor	HP:0040282	ORPHA:231226
3043	HBB	HP:0034336	Splenic infarction	HP:0040283	ORPHA:232
3043	HBB	HP:0034336	Splenic infarction	-	OMIM:603903
3043	HBB	HP:0034336	Splenic infarction	HP:0040283	ORPHA:251380
3043	HBB	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:231214
3043	HBB	HP:0000953	Hyperpigmentation of the skin	HP:0040283	ORPHA:231226
3043	HBB	HP:0000952	Jaundice	-	OMIM:603903
3043	HBB	HP:0000952	Jaundice	HP:0040282	ORPHA:232
3043	HBB	HP:0000952	Jaundice	HP:0040283	ORPHA:231214
3043	HBB	HP:0000952	Jaundice	HP:0040282	ORPHA:231222
3043	HBB	HP:0000952	Jaundice	HP:0040283	ORPHA:231226
3043	HBB	HP:0000961	Cyanosis	-	OMIM:617971
3043	HBB	HP:0000939	Osteoporosis	HP:0040282	ORPHA:232
3043	HBB	HP:0000939	Osteoporosis	HP:0040282	ORPHA:231214
3043	HBB	HP:0000939	Osteoporosis	HP:0040281	ORPHA:231222
3043	HBB	HP:0000939	Osteoporosis	HP:0040283	ORPHA:231226
3043	HBB	HP:0000938	Osteopenia	HP:0040283	ORPHA:231222
3043	HBB	HP:0011675	Arrhythmia	HP:0040284	ORPHA:231214
3043	HBB	HP:0011675	Arrhythmia	HP:0040284	ORPHA:231226
3043	HBB	HP:0025547	Decreased mean corpuscular hemoglobin concentration	HP:0040282	ORPHA:90039
3043	HBB	HP:0025547	Decreased mean corpuscular hemoglobin concentration	1/1	OMIM:603902
3043	HBB	HP:0025547	Decreased mean corpuscular hemoglobin concentration	HP:0040282	ORPHA:231226
3043	HBB	HP:0025547	Decreased mean corpuscular hemoglobin concentration	HP:0040281	ORPHA:231214
3043	HBB	HP:0030058	Sickled erythrocytes	HP:0040283	ORPHA:90039
3043	HBB	HP:0002829	Arthralgia	HP:0040283	ORPHA:231214
3043	HBB	HP:0002829	Arthralgia	HP:0040283	ORPHA:231226
3043	HBB	HP:0002829	Arthralgia	HP:0040283	ORPHA:251380
3043	HBB	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:231214
3043	HBB	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:231226
3043	HBB	HP:0002857	Genu valgum	HP:0040282	ORPHA:231214
3043	HBB	HP:0002857	Genu valgum	HP:0040283	ORPHA:231226
3043	HBB	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:2133
3043	HBB	HP:0001510	Growth delay	HP:0040282	ORPHA:231214
3043	HBB	HP:0001510	Growth delay	HP:0040283	ORPHA:231226
3043	HBB	HP:0011031	Abnormality of iron homeostasis	HP:0040282	ORPHA:231222
3043	HBB	HP:0011031	Abnormality of iron homeostasis	HP:0040283	ORPHA:231226
3043	HBB	HP:0011031	Abnormality of iron homeostasis	HP:0040282	ORPHA:231214
3043	HBB	HP:0005268	Miscarriage	HP:0040284	ORPHA:2133
3043	HBB	HP:0006487	Bowing of the long bones	HP:0040282	ORPHA:231214
3043	HBB	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:231226
3043	HBB	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:231214
3043	HBB	HP:0001644	Dilated cardiomyopathy	HP:0040284	ORPHA:231226
3043	HBB	HP:0001626	Abnormality of the cardiovascular system	HP:0040283	ORPHA:231222
3043	HBB	HP:0001622	Premature birth	HP:0040283	ORPHA:2133
3043	HBB	HP:0001640	Cardiomegaly	-	OMIM:603903
3043	HBB	HP:0001722	High-output congestive heart failure	HP:0040283	ORPHA:231222
3043	HBB	HP:0001722	High-output congestive heart failure	HP:0040284	ORPHA:231226
3043	HBB	HP:0001722	High-output congestive heart failure	HP:0040283	ORPHA:231214
3043	HBB	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:231214
3043	HBB	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:231226
3043	HBB	HP:0012465	Elevated hepatic iron concentration	HP:0040283	ORPHA:231222
3043	HBB	HP:0000488	Retinopathy	HP:0040282	ORPHA:232
3043	HBB	HP:0000488	Retinopathy	HP:0040283	ORPHA:251380
3043	HBB	HP:0000488	Retinopathy	-	OMIM:603903
3043	HBB	HP:0012418	Hypoxemia	HP:0040283	ORPHA:232
3043	HBB	HP:0012418	Hypoxemia	-	OMIM:603903
3043	HBB	HP:0001746	Asplenia	HP:0040283	ORPHA:251380
3043	HBB	HP:0001744	Splenomegaly	HP:0040281	ORPHA:231242
3043	HBB	HP:0001744	Splenomegaly	HP:0040281	ORPHA:46532
3043	HBB	HP:0001744	Splenomegaly	HP:0040282	ORPHA:231214
3043	HBB	HP:0001744	Splenomegaly	HP:0040283	ORPHA:231222
3043	HBB	HP:0001744	Splenomegaly	HP:0040283	ORPHA:231226
3043	HBB	HP:0001744	Splenomegaly	HP:0040283	ORPHA:251380
3043	HBB	HP:0001744	Splenomegaly	-	OMIM:603903
3043	HBB	HP:0001744	Splenomegaly	1/1	OMIM:603902
3043	HBB	HP:0001744	Splenomegaly	HP:0040283	ORPHA:2133
3043	HBB	HP:0001744	Splenomegaly	HP:0040284	ORPHA:90039
3043	HBB	HP:0001743	Abnormality of the spleen	HP:0040282	ORPHA:232
3043	HBB	HP:0011273	Anisocytosis	HP:0040282	ORPHA:231226
3043	HBB	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:231214
3043	HBB	HP:0000582	Upslanted palpebral fissure	HP:0040284	ORPHA:231226
3043	HBB	HP:0001891	Iron deficiency anemia	HP:0040282	ORPHA:232
3043	HBB	HP:0001894	Thrombocytosis	HP:0040282	ORPHA:232
3043	HBB	HP:0001899	Increased hematocrit	17/17	OMIM:617980
3043	HBB	HP:0012531	Pain	HP:0040281	ORPHA:232
3043	HBB	HP:0001878	Hemolytic anemia	-	OMIM:603903
3043	HBB	HP:0001878	Hemolytic anemia	HP:0040281	ORPHA:232
3045	HBD	HP:0011902	Abnormal hemoglobin	HP:0040281	ORPHA:231237
3045	HBD	HP:0001935	Microcytic anemia	HP:0040281	ORPHA:231237
3045	HBD	HP:0001903	Anemia	HP:0040281	ORPHA:231237
3047	HBG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:141749
3047	HBG1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:251380
3047	HBG1	HP:0003330	Abnormal bone structure	HP:0040282	ORPHA:46532
3047	HBG1	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:251380
3047	HBG1	HP:0011902	Abnormal hemoglobin	HP:0040281	ORPHA:231237
3047	HBG1	HP:0011904	Persistence of hemoglobin F	-	OMIM:141749
3047	HBG1	HP:0011904	Persistence of hemoglobin F	HP:0040281	ORPHA:46532
3047	HBG1	HP:0011904	Persistence of hemoglobin F	HP:0040280	ORPHA:251380
3047	HBG1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:46532
3047	HBG1	HP:0008346	Increased red cell sickling tendency	HP:0040283	ORPHA:251380
3047	HBG1	HP:0004840	Hypochromic microcytic anemia	HP:0040283	ORPHA:251380
3047	HBG1	HP:0032169	Severe infection	HP:0040283	ORPHA:251380
3047	HBG1	HP:0001923	Reticulocytosis	HP:0040283	ORPHA:251380
3047	HBG1	HP:0001935	Microcytic anemia	HP:0040281	ORPHA:231237
3047	HBG1	HP:0001903	Anemia	HP:0040281	ORPHA:231237
3047	HBG1	HP:0001903	Anemia	HP:0040281	ORPHA:46532
3047	HBG1	HP:0045047	HbS hemoglobin	HP:0040282	ORPHA:251380
3047	HBG1	HP:0000980	Pallor	HP:0040281	ORPHA:46532
3047	HBG1	HP:0034336	Splenic infarction	HP:0040283	ORPHA:251380
3047	HBG1	HP:0002829	Arthralgia	HP:0040283	ORPHA:251380
3047	HBG1	HP:0000488	Retinopathy	HP:0040283	ORPHA:251380
3047	HBG1	HP:0001746	Asplenia	HP:0040283	ORPHA:251380
3047	HBG1	HP:0001744	Splenomegaly	HP:0040281	ORPHA:46532
3047	HBG1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:251380
3048	HBG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613977
3048	HBG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:141749
3048	HBG2	HP:0012119	Methemoglobinemia	2/2	OMIM:613977
3048	HBG2	HP:0002027	Abdominal pain	HP:0040283	ORPHA:251380
3048	HBG2	HP:0003330	Abnormal bone structure	HP:0040282	ORPHA:46532
3048	HBG2	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:251380
3048	HBG2	HP:0011904	Persistence of hemoglobin F	-	OMIM:141749
3048	HBG2	HP:0011904	Persistence of hemoglobin F	HP:0040281	ORPHA:46532
3048	HBG2	HP:0011904	Persistence of hemoglobin F	HP:0040280	ORPHA:251380
3048	HBG2	HP:0003577	Congenital onset	2/2	OMIM:613977
3048	HBG2	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:46532
3048	HBG2	HP:0002240	Hepatomegaly	HP:0040283	OMIM:613977
3048	HBG2	HP:0008346	Increased red cell sickling tendency	HP:0040283	ORPHA:251380
3048	HBG2	HP:0004840	Hypochromic microcytic anemia	HP:0040283	ORPHA:251380
3048	HBG2	HP:0032169	Severe infection	HP:0040283	ORPHA:251380
3048	HBG2	HP:0001923	Reticulocytosis	HP:0040283	OMIM:613977
3048	HBG2	HP:0001923	Reticulocytosis	HP:0040283	ORPHA:251380
3048	HBG2	HP:0001903	Anemia	HP:0040281	ORPHA:46532
3048	HBG2	HP:0001903	Anemia	HP:0040283	OMIM:613977
3048	HBG2	HP:0045047	HbS hemoglobin	HP:0040282	ORPHA:251380
3048	HBG2	HP:0000980	Pallor	HP:0040281	ORPHA:46532
3048	HBG2	HP:0034336	Splenic infarction	HP:0040283	ORPHA:251380
3048	HBG2	HP:0000952	Jaundice	HP:0040283	OMIM:613977
3048	HBG2	HP:0000961	Cyanosis	2/2	OMIM:613977
3048	HBG2	HP:0002829	Arthralgia	HP:0040283	ORPHA:251380
3048	HBG2	HP:0000488	Retinopathy	HP:0040283	ORPHA:251380
3048	HBG2	HP:0001746	Asplenia	HP:0040283	ORPHA:251380
3048	HBG2	HP:0001744	Splenomegaly	HP:0040281	ORPHA:46532
3048	HBG2	HP:0001744	Splenomegaly	HP:0040283	ORPHA:251380
3052	HCCS	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
3052	HCCS	HP:0009939	Mandibular aplasia	HP:0040282	ORPHA:2556
3052	HCCS	HP:0001274	Agenesis of corpus callosum	1/9	OMIM:309801
3052	HCCS	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:2556
3052	HCCS	HP:0001250	Seizure	HP:0040283	ORPHA:2556
3052	HCCS	HP:0001250	Seizure	-	OMIM:309801
3052	HCCS	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2556
3052	HCCS	HP:0001249	Intellectual disability	2/9	OMIM:309801
3052	HCCS	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2556
3052	HCCS	HP:0001263	Global developmental delay	2/9	OMIM:309801
3052	HCCS	HP:0007398	Asymmetric, linear skin defects	11/11	OMIM:309801
3052	HCCS	HP:0008665	Clitoral hypertrophy	-	OMIM:309801
3052	HCCS	HP:0008665	Clitoral hypertrophy	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000041	Chordee	-	OMIM:309801
3052	HCCS	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000036	Abnormal penis morphology	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000039	Epispadias	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000054	Micropenis	-	OMIM:309801
3052	HCCS	HP:0000047	Hypospadias	-	OMIM:309801
3052	HCCS	HP:0000047	Hypospadias	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:2556
3052	HCCS	HP:0001331	Absent septum pellucidum	-	OMIM:309801
3052	HCCS	HP:0001331	Absent septum pellucidum	HP:0040283	ORPHA:2556
3052	HCCS	HP:0001328	Specific learning disability	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000013	Hypoplasia of the uterus	-	OMIM:309801
3052	HCCS	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
3052	HCCS	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
3052	HCCS	HP:0002623	Overriding aorta	-	OMIM:309801
3052	HCCS	HP:0000175	Cleft palate	1/8	OMIM:309801
3052	HCCS	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
3052	HCCS	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
3052	HCCS	HP:0001423	X-linked dominant inheritance	-	OMIM:309801
3052	HCCS	HP:0002023	Anal atresia	-	OMIM:309801
3052	HCCS	HP:0002034	Abnormal rectum morphology	HP:0040283	ORPHA:2556
3052	HCCS	HP:0011800	Midface retrusion	HP:0040281	ORPHA:2556
3052	HCCS	HP:0002098	Respiratory distress	HP:0040283	ORPHA:2556
3052	HCCS	HP:0002094	Dyspnea	HP:0040283	ORPHA:2556
3052	HCCS	HP:0010448	Colonic atresia	1/8	OMIM:309801
3052	HCCS	HP:0011716	Junctional ectopic tachycardia	1/8	OMIM:309801
3052	HCCS	HP:0002133	Status epilepticus	HP:0040283	ORPHA:2556
3052	HCCS	HP:0010529	Echolalia	HP:0040283	ORPHA:2556
3052	HCCS	HP:0003577	Congenital onset	11/11	OMIM:309801
3052	HCCS	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2556
3052	HCCS	HP:0003510	Severe short stature	HP:0040282	ORPHA:2556
3052	HCCS	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:2556
3052	HCCS	HP:0002381	Aphasia	HP:0040283	ORPHA:2556
3052	HCCS	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:2556
3052	HCCS	HP:0010783	Erythema	HP:0040281	ORPHA:2556
3052	HCCS	HP:0002300	Mutism	HP:0040283	ORPHA:2556
3052	HCCS	HP:0003621	Juvenile onset	8/19	OMIM:180100
3052	HCCS	HP:0000646	Amblyopia	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000647	Sclerocornea	3/11	OMIM:309801
3052	HCCS	HP:0000647	Sclerocornea	HP:0040281	ORPHA:2556
3052	HCCS	HP:0000618	Blindness	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000612	Iris coloboma	-	OMIM:309801
3052	HCCS	HP:0000614	Abnormal nasolacrimal system morphology	HP:0040282	ORPHA:2556
3052	HCCS	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000662	Nyctalopia	26/28	OMIM:180100
3052	HCCS	HP:0000659	Peters anomaly	1/11	OMIM:309801
3052	HCCS	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:2556
3052	HCCS	HP:0004322	Short stature	3/9	OMIM:309801
3052	HCCS	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:2556
3052	HCCS	HP:0004327	Abnormal vitreous humor morphology	HP:0040282	ORPHA:2556
3052	HCCS	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:2556
3052	HCCS	HP:0004378	Abnormality of the anus	HP:0040283	ORPHA:2556
3052	HCCS	HP:0011463	Childhood onset	3/19	OMIM:180100
3052	HCCS	HP:0011462	Young adult onset	8/19	OMIM:180100
3052	HCCS	HP:0000776	Congenital diaphragmatic hernia	HP:0040281	ORPHA:2556
3052	HCCS	HP:0000776	Congenital diaphragmatic hernia	-	OMIM:309801
3052	HCCS	HP:0011531	Vitritis	HP:0040282	ORPHA:2556
3052	HCCS	HP:0012861	Ovotestis	-	OMIM:309801
3052	HCCS	HP:0000954	Single transverse palmar crease	1/8	OMIM:309801
3052	HCCS	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:2556
3052	HCCS	HP:0000960	Sacral dimple	HP:0040283	ORPHA:2556
3052	HCCS	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:2556
3052	HCCS	HP:0011675	Arrhythmia	-	OMIM:309801
3052	HCCS	HP:0011675	Arrhythmia	HP:0040282	ORPHA:2556
3052	HCCS	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:2556
3052	HCCS	HP:0000278	Retrognathia	HP:0040282	ORPHA:2556
3052	HCCS	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:2556
3052	HCCS	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
3052	HCCS	HP:0007731	Chorioretinal dysplasia	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000238	Hydrocephalus	-	OMIM:309801
3052	HCCS	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000252	Microcephaly	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000252	Microcephaly	1/8	OMIM:309801
3052	HCCS	HP:0002878	Respiratory failure	HP:0040283	ORPHA:2556
3052	HCCS	HP:0001545	Anteriorly placed anus	-	OMIM:309801
3052	HCCS	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2556
3052	HCCS	HP:0030048	Colpocephaly	-	OMIM:309801
3052	HCCS	HP:0001510	Growth delay	HP:0040283	ORPHA:2556
3052	HCCS	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
3052	HCCS	HP:0011027	Abnormal fallopian tube morphology	HP:0040283	ORPHA:2556
3052	HCCS	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:2556
3052	HCCS	HP:0005152	Histiocytoid cardiomyopathy	-	OMIM:309801
3052	HCCS	HP:0000363	Abnormal earlobe morphology	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000365	Hearing impairment	1/8	OMIM:309801
3052	HCCS	HP:0011003	High myopia	1/11	OMIM:309801
3052	HCCS	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:2556
3052	HCCS	HP:0000347	Micrognathia	HP:0040282	ORPHA:2556
3052	HCCS	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:2556
3052	HCCS	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:2556
3052	HCCS	HP:0001629	Ventricular septal defect	-	OMIM:309801
3052	HCCS	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:2556
3052	HCCS	HP:0001631	Atrial septal defect	-	OMIM:309801
3052	HCCS	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:2556
3052	HCCS	HP:0007957	Corneal opacity	HP:0040281	ORPHA:2556
3052	HCCS	HP:0000499	Abnormal eyelash morphology	HP:0040282	ORPHA:2556
3052	HCCS	HP:0007973	Retinal dysplasia	HP:0040283	ORPHA:2556
3052	HCCS	HP:0001704	Tricuspid valve prolapse	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000492	Abnormal eyelid morphology	HP:0040282	ORPHA:2556
3052	HCCS	HP:0000445	Wide nose	HP:0040282	ORPHA:2556
3052	HCCS	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:2556
3052	HCCS	HP:0000518	Cataract	1/11	OMIM:309801
3052	HCCS	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
3052	HCCS	HP:0000528	Anophthalmia	HP:0040281	ORPHA:2556
3052	HCCS	HP:0000501	Glaucoma	HP:0040283	ORPHA:2556
3052	HCCS	HP:0011265	Cleft earlobe	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000598	Abnormality of the ear	HP:0040282	ORPHA:2556
3052	HCCS	HP:0000580	Pigmentary retinopathy	-	OMIM:309801
3052	HCCS	HP:0000575	Scotoma	5/18	OMIM:180100
3052	HCCS	HP:0000556	Retinal dystrophy	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000572	Visual loss	HP:0040283	ORPHA:2556
3052	HCCS	HP:0000568	Microphthalmia	10/11	OMIM:309801
3052	HCCS	HP:0000568	Microphthalmia	HP:0040281	ORPHA:2556
3052	HCCS	HP:0000543	Optic disc pallor	1/1	OMIM:180100
3052	HCCS	HP:0000545	Myopia	-	OMIM:180100
3053	SERPIND1	HP:0000006	Autosomal dominant inheritance	-	OMIM:612356
3053	SERPIND1	HP:0004761	Post-angioplasty coronary artery restenosis	-	OMIM:612356
3053	SERPIND1	HP:0004850	Recurrent deep vein thrombosis	-	OMIM:612356
3053	SERPIND1	HP:0005521	Disseminated intravascular coagulation	-	OMIM:612356
3054	HCFC1	HP:0001250	Seizure	9/14	OMIM:309541
3054	HCFC1	HP:0001252	Hypotonia	3/14	OMIM:309541
3054	HCFC1	HP:0001249	Intellectual disability	-	OMIM:309541
3054	HCFC1	HP:0001266	Choreoathetosis	4/14	OMIM:309541
3054	HCFC1	HP:0001263	Global developmental delay	12/14	OMIM:309541
3054	HCFC1	HP:0002521	Hypsarrhythmia	3/14	OMIM:309541
3054	HCFC1	HP:0012120	Methylmalonic aciduria	11/11	OMIM:309541
3054	HCFC1	HP:0001419	X-linked recessive inheritance	-	OMIM:309541
3054	HCFC1	HP:0002072	Chorea	1/14	OMIM:309541
3054	HCFC1	HP:0002156	Homocystinuria	HP:0040283	OMIM:309541
3054	HCFC1	HP:0002188	Delayed CNS myelination	1/1	OMIM:309541
3054	HCFC1	HP:0002160	Hyperhomocystinemia	5/10	OMIM:309541
3054	HCFC1	HP:0003593	Infantile onset	10/14	OMIM:309541
3054	HCFC1	HP:0003623	Neonatal onset	1/14	OMIM:309541
3054	HCFC1	HP:0002305	Athetosis	HP:0040283	OMIM:309541
3054	HCFC1	HP:0004322	Short stature	-	OMIM:309541
3054	HCFC1	HP:0030674	Antenatal onset	3/14	OMIM:309541
3054	HCFC1	HP:0000252	Microcephaly	7/14	OMIM:309541
3054	HCFC1	HP:0000248	Brachycephaly	-	OMIM:309541
3054	HCFC1	HP:0001508	Failure to thrive	5/14	OMIM:309541
3054	HCFC1	HP:0002912	Methylmalonic acidemia	7/7	OMIM:309541
3054	HCFC1	HP:0012469	Infantile spasms	3/14	OMIM:309541
3055	HCK	HP:0000006	Autosomal dominant inheritance	-	OMIM:620296
3055	HCK	HP:0002788	Recurrent upper respiratory tract infections	1/1	OMIM:620296
3055	HCK	HP:0002091	Restrictive ventilatory defect	1/1	OMIM:620296
3055	HCK	HP:0002240	Hepatomegaly	1/1	OMIM:620296
3055	HCK	HP:0200029	Vasculitis in the skin	1/1	OMIM:620296
3055	HCK	HP:0003623	Neonatal onset	1/1	OMIM:620296
3055	HCK	HP:0001903	Anemia	1/1	OMIM:620296
3055	HCK	HP:0000979	Purpura	1/1	OMIM:620296
3055	HCK	HP:0000967	Petechiae	1/1	OMIM:620296
3055	HCK	HP:0002878	Respiratory failure	1/1	OMIM:620296
3055	HCK	HP:0006515	Interstitial pneumonitis	1/1	OMIM:620296
3055	HCK	HP:0001744	Splenomegaly	1/1	OMIM:620296
3060	HCRT	HP:0002494	Abnormal rapid eye movement sleep	1/1	OMIM:161400
3060	HCRT	HP:0002494	Abnormal rapid eye movement sleep	HP:0040282	ORPHA:2073
3060	HCRT	HP:0025235	NREM parasomnia	HP:0040282	ORPHA:2073
3060	HCRT	HP:0025233	Sleep paralysis	1/1	OMIM:161400
3060	HCRT	HP:0025233	Sleep paralysis	HP:0040283	ORPHA:2073
3060	HCRT	HP:0001279	Syncope	HP:0040283	ORPHA:2073
3060	HCRT	HP:0001262	Excessive daytime somnolence	1/1	OMIM:161400
3060	HCRT	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:83465
3060	HCRT	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:2073
3060	HCRT	HP:0002519	Hypnagogic hallucination	1/1	OMIM:161400
3060	HCRT	HP:0002519	Hypnagogic hallucination	HP:0040282	ORPHA:2073
3060	HCRT	HP:0002524	Cataplexy	1/1	OMIM:161400
3060	HCRT	HP:0002524	Cataplexy	HP:0040281	ORPHA:2073
3060	HCRT	HP:0001350	Slurred speech	HP:0040283	ORPHA:2073
3060	HCRT	HP:0000017	Nocturia	HP:0040282	ORPHA:2073
3060	HCRT	HP:0000006	Autosomal dominant inheritance	-	OMIM:161400
3060	HCRT	HP:0007686	Abnormal pupillary function	HP:0040282	ORPHA:2073
3060	HCRT	HP:0002019	Constipation	HP:0040282	ORPHA:2073
3060	HCRT	HP:0040307	Male sexual dysfunction	HP:0040282	ORPHA:2073
3060	HCRT	HP:0002076	Migraine	HP:0040283	ORPHA:2073
3060	HCRT	HP:0010535	Sleep apnea	HP:0040283	ORPHA:2073
3060	HCRT	HP:0010534	Transient global amnesia	HP:0040281	ORPHA:2073
3060	HCRT	HP:0003593	Infantile onset	1/1	OMIM:161400
3060	HCRT	HP:0100785	Insomnia	HP:0040281	ORPHA:83465
3060	HCRT	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:2073
3060	HCRT	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:83465
3060	HCRT	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:2073
3060	HCRT	HP:0002330	Paroxysmal drowsiness	-	OMIM:161400
3060	HCRT	HP:0002307	Drooling	HP:0040282	ORPHA:2073
3060	HCRT	HP:0006896	Hypnopompic hallucination	-	OMIM:161400
3060	HCRT	HP:0006896	Hypnopompic hallucination	HP:0040282	ORPHA:2073
3060	HCRT	HP:0000738	Hallucinations	HP:0040281	ORPHA:83465
3060	HCRT	HP:0000738	Hallucinations	HP:0040281	ORPHA:2073
3060	HCRT	HP:0000739	Anxiety	HP:0040282	ORPHA:2073
3060	HCRT	HP:0000716	Depression	HP:0040283	ORPHA:2073
3060	HCRT	HP:0000711	Restlessness	HP:0040283	ORPHA:2073
3060	HCRT	HP:0000709	Psychosis	HP:0040284	ORPHA:2073
3060	HCRT	HP:0000708	Atypical behavior	HP:0040283	ORPHA:83465
3060	HCRT	HP:0000826	Precocious puberty	HP:0040283	ORPHA:2073
3060	HCRT	HP:0000822	Hypertension	HP:0040282	ORPHA:2073
3060	HCRT	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:2073
3060	HCRT	HP:0030014	Female sexual dysfunction	HP:0040282	ORPHA:2073
3060	HCRT	HP:0030050	Narcolepsy	1/1	OMIM:161400
3060	HCRT	HP:0001513	Obesity	HP:0040283	ORPHA:2073
3060	HCRT	HP:0012452	Restless legs	HP:0040282	ORPHA:2073
3064	HTT	HP:0007256	Abnormal pyramidal sign	1/1	OMIM:617435
3064	HTT	HP:0010864	Intellectual disability, severe	1/1	OMIM:617435
3064	HTT	HP:0003763	Bruxism	-	OMIM:617435
3064	HTT	HP:0001276	Hypertonia	-	OMIM:617435
3064	HTT	HP:0001272	Cerebellar atrophy	-	OMIM:617435
3064	HTT	HP:0001272	Cerebellar atrophy	-	OMIM:143100
3064	HTT	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:248111
3064	HTT	HP:0001268	Mental deterioration	HP:0040281	ORPHA:399
3064	HTT	HP:0001288	Gait disturbance	HP:0040282	ORPHA:399
3064	HTT	HP:0001250	Seizure	HP:0040282	ORPHA:399
3064	HTT	HP:0001250	Seizure	HP:0040284	OMIM:617435
3064	HTT	HP:0001250	Seizure	-	OMIM:143100
3064	HTT	HP:0001250	Seizure	HP:0040282	ORPHA:248111
3064	HTT	HP:0001251	Ataxia	HP:0040282	ORPHA:248111
3064	HTT	HP:0002591	Polyphagia	HP:0040283	ORPHA:399
3064	HTT	HP:0001263	Global developmental delay	1/1	OMIM:617435
3064	HTT	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:399
3064	HTT	HP:0001257	Spasticity	-	OMIM:617435
3064	HTT	HP:0002540	Inability to walk	HP:0040283	ORPHA:399
3064	HTT	HP:0002529	Neuronal loss in central nervous system	-	OMIM:143100
3064	HTT	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:399
3064	HTT	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:248111
3064	HTT	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:399
3064	HTT	HP:0001347	Hyperreflexia	-	OMIM:617435
3064	HTT	HP:0001347	Hyperreflexia	-	OMIM:143100
3064	HTT	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:248111
3064	HTT	HP:0001332	Dystonia	HP:0040282	ORPHA:399
3064	HTT	HP:0001332	Dystonia	1/1	OMIM:617435
3064	HTT	HP:0001332	Dystonia	HP:0040282	ORPHA:248111
3064	HTT	HP:0001344	Absent speech	-	OMIM:617435
3064	HTT	HP:0000007	Autosomal recessive inheritance	-	OMIM:617435
3064	HTT	HP:0001337	Tremor	1/1	OMIM:617435
3064	HTT	HP:0000006	Autosomal dominant inheritance	-	OMIM:143100
3064	HTT	HP:0001336	Myoclonus	HP:0040282	ORPHA:399
3064	HTT	HP:0001336	Myoclonus	HP:0040283	ORPHA:248111
3064	HTT	HP:0002650	Scoliosis	-	OMIM:617435
3064	HTT	HP:0008936	Axial hypotonia	-	OMIM:617435
3064	HTT	HP:0025401	Staring gaze	HP:0040282	ORPHA:399
3064	HTT	HP:0002015	Dysphagia	-	OMIM:617435
3064	HTT	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:399
3064	HTT	HP:0002067	Bradykinesia	HP:0040282	ORPHA:399
3064	HTT	HP:0002067	Bradykinesia	-	OMIM:143100
3064	HTT	HP:0002067	Bradykinesia	HP:0040282	ORPHA:248111
3064	HTT	HP:0002067	Bradykinesia	1/1	OMIM:617435
3064	HTT	HP:0002066	Gait ataxia	HP:0040282	ORPHA:248111
3064	HTT	HP:0002066	Gait ataxia	-	OMIM:143100
3064	HTT	HP:0002063	Rigidity	HP:0040283	ORPHA:399
3064	HTT	HP:0002063	Rigidity	HP:0040283	OMIM:143100
3064	HTT	HP:0002063	Rigidity	HP:0040282	ORPHA:248111
3064	HTT	HP:0002072	Chorea	HP:0040281	ORPHA:399
3064	HTT	HP:0002072	Chorea	-	OMIM:143100
3064	HTT	HP:0002072	Chorea	HP:0040282	ORPHA:248111
3064	HTT	HP:0002073	Progressive cerebellar ataxia	HP:0040283	ORPHA:248111
3064	HTT	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:399
3064	HTT	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:399
3064	HTT	HP:0002059	Cerebral atrophy	1/1	OMIM:617435
3064	HTT	HP:0002141	Gait imbalance	HP:0040282	ORPHA:399
3064	HTT	HP:0003487	Babinski sign	HP:0040283	ORPHA:399
3064	HTT	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:248111
3064	HTT	HP:0002136	Broad-based gait	HP:0040282	ORPHA:248111
3064	HTT	HP:0002169	Clonus	HP:0040283	ORPHA:399
3064	HTT	HP:0002171	Gliosis	-	OMIM:143100
3064	HTT	HP:0003593	Infantile onset	1/1	OMIM:617435
3064	HTT	HP:0200147	Neuronal loss in basal ganglia	HP:0040282	ORPHA:248111
3064	HTT	HP:0100785	Insomnia	HP:0040283	ORPHA:399
3064	HTT	HP:0200136	Oral-pharyngeal dysphagia	HP:0040283	ORPHA:399
3064	HTT	HP:0007010	Poor fine motor coordination	HP:0040282	ORPHA:399
3064	HTT	HP:0011968	Feeding difficulties	-	OMIM:617435
3064	HTT	HP:0002384	Focal impaired awareness seizure	1/1	OMIM:617435
3064	HTT	HP:0002360	Sleep abnormality	1/1	OMIM:617435
3064	HTT	HP:0002375	Hypokinesia	HP:0040282	ORPHA:399
3064	HTT	HP:0002376	Developmental regression	1/1	OMIM:617435
3064	HTT	HP:0002340	Caudate atrophy	HP:0040283	ORPHA:399
3064	HTT	HP:0002340	Caudate atrophy	1/1	OMIM:617435
3064	HTT	HP:0002354	Memory impairment	HP:0040282	ORPHA:399
3064	HTT	HP:0002317	Unsteady gait	-	OMIM:617435
3064	HTT	HP:0200055	Small hand	-	OMIM:617435
3064	HTT	HP:0010794	Impaired visuospatial constructive cognition	HP:0040283	ORPHA:399
3064	HTT	HP:0002300	Mutism	HP:0040283	ORPHA:399
3064	HTT	HP:0002312	Clumsiness	HP:0040282	ORPHA:399
3064	HTT	HP:0031845	Abnormal libido	HP:0040282	ORPHA:399
3064	HTT	HP:0031843	Abnormally slow thought process	HP:0040282	ORPHA:399
3064	HTT	HP:0006855	Cerebellar vermis atrophy	HP:0040283	ORPHA:248111
3064	HTT	HP:0006855	Cerebellar vermis atrophy	1/1	OMIM:617435
3064	HTT	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:399
3064	HTT	HP:0004305	Involuntary movements	HP:0040282	ORPHA:399
3064	HTT	HP:0000752	Hyperactivity	HP:0040282	ORPHA:248111
3064	HTT	HP:0000751	Personality changes	-	OMIM:143100
3064	HTT	HP:0000738	Hallucinations	HP:0040282	ORPHA:399
3064	HTT	HP:0000737	Irritability	HP:0040282	ORPHA:399
3064	HTT	HP:0000737	Irritability	HP:0040282	ORPHA:248111
3064	HTT	HP:0000739	Anxiety	HP:0040282	ORPHA:399
3064	HTT	HP:0000734	Disinhibition	HP:0040282	ORPHA:399
3064	HTT	HP:0000733	Motor stereotypy	1/1	OMIM:617435
3064	HTT	HP:0000746	Delusion	HP:0040282	ORPHA:399
3064	HTT	HP:0000741	Apathy	HP:0040282	ORPHA:399
3064	HTT	HP:0000716	Depression	HP:0040282	ORPHA:399
3064	HTT	HP:0000716	Depression	HP:0040282	ORPHA:248111
3064	HTT	HP:0000716	Depression	-	OMIM:143100
3064	HTT	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:399
3064	HTT	HP:0000713	Agitation	HP:0040282	ORPHA:399
3064	HTT	HP:0000713	Agitation	1/1	OMIM:617435
3064	HTT	HP:0000726	Dementia	HP:0040282	ORPHA:248111
3064	HTT	HP:0000726	Dementia	-	OMIM:143100
3064	HTT	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:399
3064	HTT	HP:0000708	Atypical behavior	HP:0040282	ORPHA:248111
3064	HTT	HP:0011448	Ankle clonus	-	OMIM:617435
3064	HTT	HP:0003107	Abnormal circulating cholesterol concentration	HP:0040283	ORPHA:399
3064	HTT	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:399
3064	HTT	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:399
3064	HTT	HP:0030842	Choking episodes	HP:0040283	ORPHA:399
3064	HTT	HP:0040140	Degeneration of the striatum	HP:0040283	ORPHA:399
3064	HTT	HP:0002808	Kyphosis	-	OMIM:617435
3064	HTT	HP:0030190	Oral motor hypotonia	HP:0040282	ORPHA:248111
3064	HTT	HP:0031473	Anger	HP:0040282	ORPHA:399
3064	HTT	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:399
3064	HTT	HP:0000496	Abnormality of eye movement	-	OMIM:143100
3064	HTT	HP:0001773	Short foot	-	OMIM:617435
3064	HTT	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:399
3064	HTT	HP:0001824	Weight loss	HP:0040282	ORPHA:399
3064	HTT	HP:0001824	Weight loss	HP:0040282	ORPHA:248111
3064	HTT	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:248111
3064	HTT	HP:0000545	Myopia	-	OMIM:617435
3067	HDC	HP:0000006	Autosomal dominant inheritance	-	OMIM:137580
3067	HDC	HP:0010529	Echolalia	-	OMIM:137580
3067	HDC	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:137580
3067	HDC	HP:0002360	Sleep abnormality	-	OMIM:137580
3067	HDC	HP:0100035	Phonic tics	-	OMIM:137580
3067	HDC	HP:0100034	Motor tics	-	OMIM:137580
3067	HDC	HP:0000742	Self-mutilation	-	OMIM:137580
3067	HDC	HP:0000718	Aggressive behavior	-	OMIM:137580
3067	HDC	HP:0000722	Compulsive behaviors	-	OMIM:137580
3070	HELLS	HP:0001270	Motor delay	4/6	OMIM:616911
3070	HELLS	HP:0001249	Intellectual disability	3/4	OMIM:616911
3070	HELLS	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2268
3070	HELLS	HP:0001263	Global developmental delay	HP:0040283	OMIM:616911
3070	HELLS	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2268
3070	HELLS	HP:0000007	Autosomal recessive inheritance	-	OMIM:616911
3070	HELLS	HP:0001334	Communicating hydrocephalus	HP:0040282	ORPHA:2268
3070	HELLS	HP:0000158	Macroglossia	HP:0040283	ORPHA:2268
3070	HELLS	HP:0002719	Recurrent infections	3/4	OMIM:616911
3070	HELLS	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:2268
3070	HELLS	HP:0002024	Malabsorption	HP:0040282	ORPHA:2268
3070	HELLS	HP:0003577	Congenital onset	-	OMIM:616911
3070	HELLS	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:2268
3070	HELLS	HP:0010808	Protruding tongue	HP:0040283	ORPHA:2268
3070	HELLS	HP:0001903	Anemia	HP:0040282	ORPHA:2268
3070	HELLS	HP:0004322	Short stature	HP:0040281	ORPHA:2268
3070	HELLS	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:2268
3070	HELLS	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:616911
3070	HELLS	HP:0004432	Agammaglobulinemia	-	OMIM:616911
3070	HELLS	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:2268
3070	HELLS	HP:0000286	Epicanthus	-	OMIM:616911
3070	HELLS	HP:0000286	Epicanthus	HP:0040283	ORPHA:2268
3070	HELLS	HP:0000256	Macrocephaly	HP:0040282	ORPHA:2268
3070	HELLS	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2268
3070	HELLS	HP:0002846	Abnormal B cell morphology	0/4	OMIM:616911
3070	HELLS	HP:0012368	Flat face	HP:0040283	ORPHA:2268
3070	HELLS	HP:0000369	Low-set ears	HP:0040283	ORPHA:2268
3070	HELLS	HP:0000347	Micrognathia	HP:0040281	ORPHA:2268
3070	HELLS	HP:0000316	Hypertelorism	-	OMIM:616911
3070	HELLS	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2268
3070	HELLS	HP:0005374	Cellular immunodeficiency	HP:0040282	ORPHA:2268
3070	HELLS	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:2268
3070	HELLS	HP:0005280	Depressed nasal bridge	-	OMIM:616911
3070	HELLS	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:2268
3070	HELLS	HP:0001874	Abnormality of neutrophils	HP:0040282	ORPHA:2268
3071	NCKAP1L	HP:0000007	Autosomal recessive inheritance	-	OMIM:618982
3071	NCKAP1L	HP:0001433	Hepatosplenomegaly	5/5	OMIM:618982
3071	NCKAP1L	HP:0002719	Recurrent infections	5/5	OMIM:618982
3071	NCKAP1L	HP:0002716	Lymphadenopathy	5/5	OMIM:618982
3071	NCKAP1L	HP:0002110	Bronchiectasis	4/5	OMIM:618982
3071	NCKAP1L	HP:0003593	Infantile onset	-	OMIM:618982
3071	NCKAP1L	HP:0100759	Clubbing of fingers	1/4	OMIM:618982
3071	NCKAP1L	HP:0032163	Molluscum contagiosum	1/5	OMIM:618982
3071	NCKAP1L	HP:0032184	Increased memory T cell proportion	4/5	OMIM:618982
3071	NCKAP1L	HP:0003237	Increased circulating IgG concentration	3/5	OMIM:618982
3071	NCKAP1L	HP:0003212	Increased circulating IgE concentration	3/5	OMIM:618982
3071	NCKAP1L	HP:0012302	Herpes simplex encephalitis	1/5	OMIM:618982
3071	NCKAP1L	HP:0000403	Recurrent otitis media	-	OMIM:618982
3071	NCKAP1L	HP:0005404	Increased total B cell count	3/5	OMIM:618982
3073	HEXA	HP:0002421	Poor head control	-	OMIM:272800
3073	HEXA	HP:0001290	Generalized hypotonia	-	OMIM:272800
3073	HEXA	HP:0001276	Hypertonia	-	OMIM:272800
3073	HEXA	HP:0001250	Seizure	-	OMIM:272800
3073	HEXA	HP:0001252	Hypotonia	-	OMIM:272800
3073	HEXA	HP:0000007	Autosomal recessive inheritance	-	OMIM:272800
3073	HEXA	HP:0003495	GM2-ganglioside accumulation	-	OMIM:272800
3073	HEXA	HP:0002267	Exaggerated startle response	-	OMIM:272800
3073	HEXA	HP:0003593	Infantile onset	-	OMIM:272800
3073	HEXA	HP:0010729	Cherry red spot of the macula	-	OMIM:272800
3073	HEXA	HP:0002361	Psychomotor deterioration	-	OMIM:272800
3073	HEXA	HP:0000618	Blindness	-	OMIM:272800
3073	HEXA	HP:0000741	Apathy	-	OMIM:272800
3073	HEXA	HP:0000726	Dementia	-	OMIM:272800
3073	HEXA	HP:0000980	Pallor	-	OMIM:272800
3073	HEXA	HP:0002835	Aspiration	-	OMIM:272800
3074	HEXB	HP:0002493	Upper motor neuron dysfunction	-	OMIM:268800
3074	HEXB	HP:0002460	Distal muscle weakness	HP:0040283	ORPHA:309162
3074	HEXB	HP:0007272	Progressive psychomotor deterioration	-	OMIM:268800
3074	HEXB	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:309162
3074	HEXB	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:309162
3074	HEXB	HP:0025268	Stuttering	HP:0040283	ORPHA:309169
3074	HEXB	HP:0100814	Blue nevus	HP:0040283	ORPHA:309155
3074	HEXB	HP:0001278	Orthostatic hypotension	-	OMIM:268800
3074	HEXB	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:309162
3074	HEXB	HP:0001268	Mental deterioration	HP:0040282	ORPHA:309169
3074	HEXB	HP:0001288	Gait disturbance	HP:0040282	ORPHA:309162
3074	HEXB	HP:0001250	Seizure	HP:0040283	ORPHA:309162
3074	HEXB	HP:0001250	Seizure	HP:0040281	ORPHA:309155
3074	HEXB	HP:0001252	Hypotonia	2/5	OMIM:268800
3074	HEXB	HP:0001251	Ataxia	-	OMIM:268800
3074	HEXB	HP:0001251	Ataxia	HP:0040281	ORPHA:309162
3074	HEXB	HP:0001260	Dysarthria	HP:0040282	ORPHA:309162
3074	HEXB	HP:0001260	Dysarthria	HP:0040282	ORPHA:309169
3074	HEXB	HP:0001260	Dysarthria	-	OMIM:268800
3074	HEXB	HP:0001257	Spasticity	HP:0040282	ORPHA:309169
3074	HEXB	HP:0001257	Spasticity	HP:0040282	ORPHA:309155
3074	HEXB	HP:0001257	Spasticity	2/5	OMIM:268800
3074	HEXB	HP:0002574	Episodic abdominal pain	-	OMIM:268800
3074	HEXB	HP:0031006	Acroparesthesia	HP:0040283	ORPHA:309162
3074	HEXB	HP:0003819	Death in childhood	5/5	OMIM:268800
3074	HEXB	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:309162
3074	HEXB	HP:0000020	Urinary incontinence	-	OMIM:268800
3074	HEXB	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:309155
3074	HEXB	HP:0001347	Hyperreflexia	4/4	OMIM:268800
3074	HEXB	HP:0001332	Dystonia	HP:0040283	ORPHA:309169
3074	HEXB	HP:0001324	Muscle weakness	-	OMIM:268800
3074	HEXB	HP:0000007	Autosomal recessive inheritance	-	OMIM:268800
3074	HEXB	HP:0001337	Tremor	HP:0040282	ORPHA:309169
3074	HEXB	HP:0001336	Myoclonus	HP:0040282	ORPHA:309155
3074	HEXB	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:309169
3074	HEXB	HP:0000158	Macroglossia	-	OMIM:268800
3074	HEXB	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:309169
3074	HEXB	HP:0008936	Axial hypotonia	HP:0040281	ORPHA:309155
3074	HEXB	HP:0001433	Hepatosplenomegaly	-	OMIM:268800
3074	HEXB	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:309155
3074	HEXB	HP:0002019	Constipation	HP:0040283	ORPHA:309162
3074	HEXB	HP:0002028	Chronic diarrhea	-	OMIM:268800
3074	HEXB	HP:0002014	Diarrhea	HP:0040283	ORPHA:309162
3074	HEXB	HP:0002015	Dysphagia	HP:0040283	ORPHA:309162
3074	HEXB	HP:0002015	Dysphagia	HP:0040282	ORPHA:309169
3074	HEXB	HP:6000122	Increased urinary N-acetylglucosamine-rich oligosaccharide level	-	OMIM:268800
3074	HEXB	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:309162
3074	HEXB	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:309155
3074	HEXB	HP:0002069	Bilateral tonic-clonic seizure	2/5	OMIM:268800
3074	HEXB	HP:0002066	Gait ataxia	HP:0040282	ORPHA:309169
3074	HEXB	HP:0003394	Muscle spasm	HP:0040283	ORPHA:309169
3074	HEXB	HP:0003390	Sensory axonal neuropathy	HP:0040282	ORPHA:309169
3074	HEXB	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:309162
3074	HEXB	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:309162
3074	HEXB	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:309169
3074	HEXB	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:309155
3074	HEXB	HP:0003429	CNS hypomyelination	1/5	OMIM:268800
3074	HEXB	HP:0003429	CNS hypomyelination	HP:0040282	ORPHA:309155
3074	HEXB	HP:0002267	Exaggerated startle response	HP:0040282	ORPHA:309155
3074	HEXB	HP:0002267	Exaggerated startle response	5/5	OMIM:268800
3074	HEXB	HP:0003593	Infantile onset	5/5	OMIM:268800
3074	HEXB	HP:0002240	Hepatomegaly	1/5	OMIM:268800
3074	HEXB	HP:0010729	Cherry red spot of the macula	HP:0040282	ORPHA:309155
3074	HEXB	HP:0010729	Cherry red spot of the macula	5/5	OMIM:268800
3074	HEXB	HP:0100785	Insomnia	HP:0040283	ORPHA:309162
3074	HEXB	HP:0100786	Hypersomnia	HP:0040284	ORPHA:309162
3074	HEXB	HP:0007083	Hyperactive patellar reflex	HP:0040282	ORPHA:309155
3074	HEXB	HP:0002380	Fasciculations	HP:0040283	ORPHA:309162
3074	HEXB	HP:0002380	Fasciculations	HP:0040283	ORPHA:309169
3074	HEXB	HP:0002380	Fasciculations	-	OMIM:268800
3074	HEXB	HP:0002376	Developmental regression	HP:0040281	ORPHA:309155
3074	HEXB	HP:0002376	Developmental regression	5/5	OMIM:268800
3074	HEXB	HP:0010829	Impaired temperature sensation	-	OMIM:268800
3074	HEXB	HP:0010780	Hyperacusis	HP:0040283	ORPHA:309155
3074	HEXB	HP:0002311	Incoordination	HP:0040282	ORPHA:309162
3074	HEXB	HP:0000618	Blindness	-	OMIM:268800
3074	HEXB	HP:0012696	Abnormal thalamic MRI signal intensity	HP:0040282	ORPHA:309155
3074	HEXB	HP:0000802	Impotence	-	OMIM:268800
3074	HEXB	HP:0004373	Focal dystonia	HP:0040283	ORPHA:309169
3074	HEXB	HP:0004343	Abnormal glycosphingolipid metabolism	-	OMIM:268800
3074	HEXB	HP:0000739	Anxiety	HP:0040283	ORPHA:309169
3074	HEXB	HP:0000729	Autistic behavior	HP:0040284	ORPHA:309162
3074	HEXB	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:309155
3074	HEXB	HP:0003121	Limb joint contracture	HP:0040283	ORPHA:309162
3074	HEXB	HP:0004481	Progressive macrocephaly	HP:0040282	ORPHA:309155
3074	HEXB	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:309169
3074	HEXB	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:309162
3074	HEXB	HP:0003202	Skeletal muscle atrophy	-	OMIM:268800
3074	HEXB	HP:0000975	Hyperhidrosis	-	OMIM:268800
3074	HEXB	HP:0000966	Hypohidrosis	-	OMIM:268800
3074	HEXB	HP:0100295	Muscle fiber atrophy	HP:0040283	ORPHA:309169
3074	HEXB	HP:0000280	Coarse facial features	HP:0040283	ORPHA:309155
3074	HEXB	HP:0000280	Coarse facial features	-	OMIM:268800
3074	HEXB	HP:0000256	Macrocephaly	2/5	OMIM:268800
3074	HEXB	HP:0033978	Reduced beta-hexosaminidase B activity	HP:0040280	ORPHA:309162
3074	HEXB	HP:0033978	Reduced beta-hexosaminidase B activity	HP:0040280	ORPHA:309155
3074	HEXB	HP:0033978	Reduced beta-hexosaminidase B activity	HP:0040280	ORPHA:309169
3074	HEXB	HP:0033978	Reduced beta-hexosaminidase B activity	5/5	OMIM:268800
3074	HEXB	HP:0001508	Failure to thrive	HP:0040282	ORPHA:309162
3074	HEXB	HP:0032794	Myoclonic seizure	3/5	OMIM:268800
3074	HEXB	HP:0032794	Myoclonic seizure	HP:0040282	ORPHA:309155
3074	HEXB	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:309155
3074	HEXB	HP:0001640	Cardiomegaly	-	OMIM:268800
3074	HEXB	HP:0001634	Mitral valve prolapse	HP:0040284	ORPHA:309155
3074	HEXB	HP:0001761	Pes cavus	HP:0040284	ORPHA:309162
3075	CFH	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
3075	CFH	HP:0001269	Hemiparesis	-	OMIM:235400
3075	CFH	HP:0001250	Seizure	-	OMIM:235400
3075	CFH	HP:0001259	Coma	-	OMIM:235400
3075	CFH	HP:0007430	Generalized edema	HP:0040282	ORPHA:244242
3075	CFH	HP:0007401	Macular atrophy	HP:0040283	ORPHA:75376
3075	CFH	HP:0010982	Polygenic inheritance	-	OMIM:610698
3075	CFH	HP:0000093	Proteinuria	HP:0040282	ORPHA:244242
3075	CFH	HP:0001342	Cerebral hemorrhage	HP:0040284	ORPHA:244242
3075	CFH	HP:0000007	Autosomal recessive inheritance	-	OMIM:235400
3075	CFH	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
3075	CFH	HP:0000007	Autosomal recessive inheritance	-	OMIM:609814
3075	CFH	HP:0000006	Autosomal dominant inheritance	-	OMIM:235400
3075	CFH	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
3075	CFH	HP:0000006	Autosomal dominant inheritance	-	OMIM:609814
3075	CFH	HP:0000006	Autosomal dominant inheritance	-	OMIM:126700
3075	CFH	HP:0000006	Autosomal dominant inheritance	-	OMIM:610698
3075	CFH	HP:0002615	Hypotension	HP:0040283	ORPHA:244242
3075	CFH	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:244242
3075	CFH	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
3075	CFH	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
3075	CFH	HP:0410019	Epigastric pain	HP:0040283	ORPHA:244242
3075	CFH	HP:0002718	Recurrent bacterial infections	-	OMIM:609814
3075	CFH	HP:0002018	Nausea	HP:0040283	ORPHA:244242
3075	CFH	HP:0002027	Abdominal pain	HP:0040283	ORPHA:244242
3075	CFH	HP:0002014	Diarrhea	-	OMIM:235400
3075	CFH	HP:0002013	Vomiting	HP:0040283	ORPHA:244242
3075	CFH	HP:0100543	Cognitive impairment	-	OMIM:235400
3075	CFH	HP:0100519	Anuria	-	OMIM:235400
3075	CFH	HP:0100598	Pulmonary edema	HP:0040283	ORPHA:244242
3075	CFH	HP:0008151	Prolonged prothrombin time	HP:0040282	ORPHA:244242
3075	CFH	HP:0003418	Back pain	HP:0040283	ORPHA:244242
3075	CFH	HP:0004746	Glomerular subendothelial electron-dense deposits	-	OMIM:609814
3075	CFH	HP:0011900	Hypofibrinogenemia	HP:0040282	ORPHA:244242
3075	CFH	HP:0004722	Thickened glomerular basement membrane	-	OMIM:609814
3075	CFH	HP:0003596	Middle age onset	18/24	OMIM:126700
3075	CFH	HP:0003584	Late onset	5/24	OMIM:126700
3075	CFH	HP:0003581	Adult onset	-	OMIM:610698
3075	CFH	HP:0002202	Pleural effusion	HP:0040283	ORPHA:244242
3075	CFH	HP:0001058	Poor wound healing	HP:0040283	ORPHA:244242
3075	CFH	HP:0002381	Aphasia	-	OMIM:235400
3075	CFH	HP:0002315	Headache	HP:0040282	ORPHA:244242
3075	CFH	HP:0100601	Eclampsia	HP:0040283	ORPHA:244242
3075	CFH	HP:0100602	Preeclampsia	HP:0040282	ORPHA:244242
3075	CFH	HP:0003641	Hemoglobinuria	HP:0040283	ORPHA:244242
3075	CFH	HP:0003621	Juvenile onset	8/19	OMIM:180100
3075	CFH	HP:0003621	Juvenile onset	-	OMIM:609814
3075	CFH	HP:0030500	Yellow/white lesions of the macula	HP:0040280	ORPHA:75376
3075	CFH	HP:0005521	Disseminated intravascular coagulation	HP:0040283	ORPHA:244242
3075	CFH	HP:0030528	Paracentral scotoma	HP:0040283	ORPHA:75376
3075	CFH	HP:0005575	Hemolytic-uremic syndrome	-	OMIM:235400
3075	CFH	HP:0012622	Chronic kidney disease	-	OMIM:609814
3075	CFH	HP:0001981	Schistocytosis	-	OMIM:235400
3075	CFH	HP:0000613	Photophobia	HP:0040283	ORPHA:75376
3075	CFH	HP:0001945	Fever	-	OMIM:235400
3075	CFH	HP:0001923	Reticulocytosis	-	OMIM:235400
3075	CFH	HP:0001937	Microangiopathic hemolytic anemia	HP:0040283	ORPHA:244242
3075	CFH	HP:0001937	Microangiopathic hemolytic anemia	-	OMIM:235400
3075	CFH	HP:0000608	Macular degeneration	-	OMIM:610698
3075	CFH	HP:0001919	Acute kidney injury	HP:0040284	ORPHA:244242
3075	CFH	HP:0001919	Acute kidney injury	-	OMIM:235400
3075	CFH	HP:0030499	Macular drusen	HP:0040280	ORPHA:75376
3075	CFH	HP:0000662	Nyctalopia	26/28	OMIM:180100
3075	CFH	HP:0004324	Increased body weight	HP:0040282	ORPHA:244242
3075	CFH	HP:0030629	Perifoveal ring of hyperautofluorescence	HP:0040282	ORPHA:75376
3075	CFH	HP:0030632	Hypoautofluorescent macular lesion	HP:0040282	ORPHA:75376
3075	CFH	HP:0030631	Hyperautofluorescent macular lesion	HP:0040282	ORPHA:75376
3075	CFH	HP:0003077	Hyperlipidemia	-	OMIM:235400
3075	CFH	HP:0011419	Placental abruption	HP:0040283	ORPHA:244242
3075	CFH	HP:0011463	Childhood onset	3/19	OMIM:180100
3075	CFH	HP:0011462	Young adult onset	8/19	OMIM:180100
3075	CFH	HP:0000790	Hematuria	-	OMIM:609814
3075	CFH	HP:0003138	Increased blood urea nitrogen	-	OMIM:235400
3075	CFH	HP:0011510	Drusen	-	OMIM:126700
3075	CFH	HP:0011509	Macular hyperpigmentation	HP:0040282	ORPHA:75376
3075	CFH	HP:0011506	Choroidal neovascularization	HP:0040283	ORPHA:75376
3075	CFH	HP:0000822	Hypertension	-	OMIM:235400
3075	CFH	HP:0030834	Shoulder pain	HP:0040283	ORPHA:244242
3075	CFH	HP:0003259	Elevated circulating creatinine concentration	-	OMIM:235400
3075	CFH	HP:0000979	Purpura	-	OMIM:235400
3075	CFH	HP:0008071	Maternal hypertension	HP:0040282	ORPHA:244242
3075	CFH	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:75376
3075	CFH	HP:0025574	Macular hemorrhage	HP:0040283	ORPHA:75376
3075	CFH	HP:0025547	Decreased mean corpuscular hemoglobin concentration	HP:0040283	ORPHA:244242
3075	CFH	HP:0007793	Granular macular appearance	HP:0040283	ORPHA:75376
3075	CFH	HP:0007754	Macular dystrophy	HP:0040281	ORPHA:75376
3075	CFH	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
3075	CFH	HP:0012231	Exudative retinal detachment	HP:0040283	ORPHA:75376
3075	CFH	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
3075	CFH	HP:0012378	Fatigue	HP:0040282	ORPHA:244242
3075	CFH	HP:0031526	Subretinal fluid	HP:0040283	ORPHA:75376
3075	CFH	HP:0011029	Internal hemorrhage	HP:0040284	ORPHA:244242
3075	CFH	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040280	ORPHA:244242
3075	CFH	HP:0007950	Peripapillary chorioretinal atrophy	HP:0040283	ORPHA:75376
3075	CFH	HP:0007937	Reticular pigmentary degeneration	HP:0040281	ORPHA:75376
3075	CFH	HP:0005389	Depletion of components of the alternative complement pathway	-	OMIM:609814
3075	CFH	HP:0005356	Decreased circulating complement factor I concentration	-	OMIM:235400
3075	CFH	HP:0005369	Decreased circulating complement factor H concentration	-	OMIM:609814
3075	CFH	HP:0005369	Decreased circulating complement factor H concentration	-	OMIM:235400
3075	CFH	HP:0025710	Late young adult onset	1/24	OMIM:126700
3075	CFH	HP:0005421	Decreased circulating complement C3 concentration	-	OMIM:235400
3075	CFH	HP:0005416	Decreased circulating complement factor B concentration	-	OMIM:235400
3075	CFH	HP:0012508	Metamorphopsia	HP:0040282	ORPHA:75376
3075	CFH	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
3075	CFH	HP:0000529	Progressive visual loss	-	OMIM:126700
3075	CFH	HP:0000575	Scotoma	5/18	OMIM:180100
3075	CFH	HP:0000572	Visual loss	HP:0040281	ORPHA:75376
3075	CFH	HP:0001878	Hemolytic anemia	HP:0040281	ORPHA:244242
3075	CFH	HP:0000543	Optic disc pallor	1/1	OMIM:180100
3075	CFH	HP:0001873	Thrombocytopenia	-	OMIM:235400
3075	CFH	HP:0001873	Thrombocytopenia	HP:0040280	ORPHA:244242
3075	CFH	HP:0000545	Myopia	-	OMIM:180100
3077	HFE	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
3077	HFE	HP:0001254	Lethargy	HP:0040283	ORPHA:465508
3077	HFE	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
3077	HFE	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
3077	HFE	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
3077	HFE	HP:0001394	Cirrhosis	-	OMIM:235200
3077	HFE	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
3077	HFE	HP:0001394	Cirrhosis	HP:0040283	ORPHA:465508
3077	HFE	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:235200
3077	HFE	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:465508
3077	HFE	HP:0001369	Arthritis	HP:0040283	ORPHA:465508
3077	HFE	HP:0001386	Joint swelling	HP:0040283	ORPHA:465508
3077	HFE	HP:0001387	Joint stiffness	HP:0040283	ORPHA:465508
3077	HFE	HP:0000029	Testicular atrophy	HP:0040283	ORPHA:465508
3077	HFE	HP:0000029	Testicular atrophy	-	OMIM:235200
3077	HFE	HP:0000027	Azoospermia	-	OMIM:235200
3077	HFE	HP:0001324	Muscle weakness	HP:0040283	ORPHA:465508
3077	HFE	HP:0000007	Autosomal recessive inheritance	-	OMIM:235200
3077	HFE	HP:0000141	Amenorrhea	HP:0040283	ORPHA:465508
3077	HFE	HP:0000141	Amenorrhea	-	OMIM:235200
3077	HFE	HP:0007574	Generalized bronze hyperpigmentation	HP:0040282	ORPHA:465508
3077	HFE	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
3077	HFE	HP:0001409	Portal hypertension	HP:0040283	ORPHA:465508
3077	HFE	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:465508
3077	HFE	HP:0001402	Hepatocellular carcinoma	-	OMIM:235200
3077	HFE	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
3077	HFE	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
3077	HFE	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
3077	HFE	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
3077	HFE	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
3077	HFE	HP:0002027	Abdominal pain	HP:0040282	ORPHA:465508
3077	HFE	HP:0002027	Abdominal pain	-	OMIM:235200
3077	HFE	HP:0002099	Asthma	HP:0040283	ORPHA:586
3077	HFE	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
3077	HFE	HP:0003452	Increased circulating iron concentration	-	OMIM:235200
3077	HFE	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
3077	HFE	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
3077	HFE	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
3077	HFE	HP:0011911	Abnormal metacarpophalangeal joint morphology	HP:0040283	ORPHA:465508
3077	HFE	HP:0046504	Decreased libido	HP:0040283	ORPHA:465508
3077	HFE	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:465508
3077	HFE	HP:0002240	Hepatomegaly	-	OMIM:235200
3077	HFE	HP:0002202	Pleural effusion	-	OMIM:235200
3077	HFE	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
3077	HFE	HP:0001009	Telangiectasia	-	OMIM:235200
3077	HFE	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:465508
3077	HFE	HP:0100626	Chronic hepatic failure	HP:0040283	ORPHA:465508
3077	HFE	HP:0100639	Erectile dysfunction	HP:0040283	ORPHA:465508
3077	HFE	HP:0001952	Glucose intolerance	-	OMIM:235200
3077	HFE	HP:0003074	Hyperglycemia	HP:0040282	ORPHA:465508
3077	HFE	HP:0000802	Impotence	-	OMIM:235200
3077	HFE	HP:0003040	Arthropathy	HP:0040282	ORPHA:465508
3077	HFE	HP:0003040	Arthropathy	-	OMIM:235200
3077	HFE	HP:0000771	Gynecomastia	HP:0040283	ORPHA:465508
3077	HFE	HP:0000739	Anxiety	HP:0040283	ORPHA:586
3077	HFE	HP:0000741	Apathy	HP:0040284	ORPHA:465508
3077	HFE	HP:0000716	Depression	HP:0040283	ORPHA:586
3077	HFE	HP:0000789	Infertility	HP:0040283	ORPHA:465508
3077	HFE	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
3077	HFE	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
3077	HFE	HP:0003199	Decreased muscle mass	HP:0040282	ORPHA:465508
3077	HFE	HP:0000819	Diabetes mellitus	-	OMIM:235200
3077	HFE	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:465508
3077	HFE	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:465508
3077	HFE	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
3077	HFE	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
3077	HFE	HP:0003281	Increased circulating ferritin concentration	HP:0040281	ORPHA:465508
3077	HFE	HP:0003281	Increased circulating ferritin concentration	-	OMIM:235200
3077	HFE	HP:0003251	Male infertility	HP:0040282	ORPHA:586
3077	HFE	HP:0030848	Elevated jugular venous pressure	HP:0040283	ORPHA:465508
3077	HFE	HP:0000953	Hyperpigmentation of the skin	-	OMIM:235200
3077	HFE	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:465508
3077	HFE	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
3077	HFE	HP:0000939	Osteoporosis	HP:0040283	ORPHA:465508
3077	HFE	HP:0000939	Osteoporosis	-	OMIM:235200
3077	HFE	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
3077	HFE	HP:0040171	Decreased serum testosterone concentration	HP:0040283	ORPHA:465508
3077	HFE	HP:0011675	Arrhythmia	HP:0040284	ORPHA:465508
3077	HFE	HP:0011675	Arrhythmia	-	OMIM:235200
3077	HFE	HP:0001596	Alopecia	-	OMIM:235200
3077	HFE	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
3077	HFE	HP:0002829	Arthralgia	HP:0040283	ORPHA:465508
3077	HFE	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
3077	HFE	HP:0001541	Ascites	-	OMIM:235200
3077	HFE	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
3077	HFE	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
3077	HFE	HP:0012378	Fatigue	HP:0040282	ORPHA:465508
3077	HFE	HP:0011031	Abnormality of iron homeostasis	HP:0040281	ORPHA:465508
3077	HFE	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
3077	HFE	HP:0005198	Stiff interphalangeal joints	HP:0040283	ORPHA:465508
3077	HFE	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
3077	HFE	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:235200
3077	HFE	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
3077	HFE	HP:0030153	Cholangiocarcinoma	HP:0040284	ORPHA:465508
3077	HFE	HP:0001640	Cardiomegaly	-	OMIM:235200
3077	HFE	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:465508
3077	HFE	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:465508
3077	HFE	HP:0001635	Congestive heart failure	-	OMIM:235200
3077	HFE	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:465508
3077	HFE	HP:0001638	Cardiomyopathy	-	OMIM:235200
3077	HFE	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
3077	HFE	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
3077	HFE	HP:0012463	Elevated transferrin saturation	HP:0040281	ORPHA:465508
3077	HFE	HP:0001744	Splenomegaly	HP:0040283	ORPHA:465508
3077	HFE	HP:0001744	Splenomegaly	-	OMIM:235200
3077	HFE	HP:0001824	Weight loss	HP:0040283	ORPHA:465508
3078	CFHR1	HP:0001269	Hemiparesis	-	OMIM:235400
3078	CFHR1	HP:0001250	Seizure	-	OMIM:235400
3078	CFHR1	HP:0001259	Coma	-	OMIM:235400
3078	CFHR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:235400
3078	CFHR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:235400
3078	CFHR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:603075
3078	CFHR1	HP:0002014	Diarrhea	-	OMIM:235400
3078	CFHR1	HP:0100543	Cognitive impairment	-	OMIM:235400
3078	CFHR1	HP:0100519	Anuria	-	OMIM:235400
3078	CFHR1	HP:0003584	Late onset	7/7	OMIM:603075
3078	CFHR1	HP:0002381	Aphasia	-	OMIM:235400
3078	CFHR1	HP:0005575	Hemolytic-uremic syndrome	-	OMIM:235400
3078	CFHR1	HP:0001981	Schistocytosis	-	OMIM:235400
3078	CFHR1	HP:0001945	Fever	-	OMIM:235400
3078	CFHR1	HP:0001923	Reticulocytosis	-	OMIM:235400
3078	CFHR1	HP:0001937	Microangiopathic hemolytic anemia	-	OMIM:235400
3078	CFHR1	HP:0000608	Macular degeneration	18/20	OMIM:603075
3078	CFHR1	HP:0001919	Acute kidney injury	-	OMIM:235400
3078	CFHR1	HP:0030499	Macular drusen	10/10	OMIM:603075
3078	CFHR1	HP:0012643	Foveal hypopigmentation	-	OMIM:603075
3078	CFHR1	HP:0003077	Hyperlipidemia	-	OMIM:235400
3078	CFHR1	HP:0003138	Increased blood urea nitrogen	-	OMIM:235400
3078	CFHR1	HP:0011506	Choroidal neovascularization	HP:0040284	OMIM:603075
3078	CFHR1	HP:0000822	Hypertension	-	OMIM:235400
3078	CFHR1	HP:0003259	Elevated circulating creatinine concentration	-	OMIM:235400
3078	CFHR1	HP:0000979	Purpura	-	OMIM:235400
3078	CFHR1	HP:0025574	Macular hemorrhage	HP:0040283	OMIM:603075
3078	CFHR1	HP:0031609	Geographic atrophy	5/10	OMIM:603075
3078	CFHR1	HP:0005356	Decreased circulating complement factor I concentration	-	OMIM:235400
3078	CFHR1	HP:0005369	Decreased circulating complement factor H concentration	-	OMIM:235400
3078	CFHR1	HP:0005421	Decreased circulating complement C3 concentration	-	OMIM:235400
3078	CFHR1	HP:0005416	Decreased circulating complement factor B concentration	-	OMIM:235400
3078	CFHR1	HP:0000529	Progressive visual loss	-	OMIM:603075
3078	CFHR1	HP:0001873	Thrombocytopenia	-	OMIM:235400
3081	HGD	HP:0034882	Prostatic calculus	HP:0040283	ORPHA:56
3081	HGD	HP:0033704	Elevated urinary homogentisic acid	HP:0040281	ORPHA:56
3081	HGD	HP:0033704	Elevated urinary homogentisic acid	58/58	OMIM:203500
3081	HGD	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:56
3081	HGD	HP:0033666	Diminished physical functioning	-	OMIM:203500
3081	HGD	HP:0008800	Limited hip movement	33/58	OMIM:203500
3081	HGD	HP:0001373	Joint dislocation	HP:0040281	ORPHA:56
3081	HGD	HP:0001369	Arthritis	-	OMIM:203500
3081	HGD	HP:0001369	Arthritis	HP:0040281	ORPHA:56
3081	HGD	HP:0001386	Joint swelling	HP:0040281	ORPHA:56
3081	HGD	HP:0001387	Joint stiffness	HP:0040281	ORPHA:56
3081	HGD	HP:0000024	Prostatitis	HP:0040282	ORPHA:56
3081	HGD	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:56
3081	HGD	HP:0000007	Autosomal recessive inheritance	-	OMIM:203500
3081	HGD	HP:0002650	Scoliosis	HP:0040283	ORPHA:56
3081	HGD	HP:0002621	Atherosclerosis	HP:0040283	ORPHA:56
3081	HGD	HP:0012119	Methemoglobinemia	HP:0040283	ORPHA:56
3081	HGD	HP:0002758	Osteoarthritis	HP:0040281	ORPHA:56
3081	HGD	HP:0003355	Aminoaciduria	HP:0040281	ORPHA:56
3081	HGD	HP:0004690	Thickened Achilles tendon	HP:0040282	ORPHA:56
3081	HGD	HP:0004690	Thickened Achilles tendon	12/58	OMIM:203500
3081	HGD	HP:0040319	Dark urine	HP:0040282	ORPHA:56
3081	HGD	HP:0040319	Dark urine	13/13	OMIM:203500
3081	HGD	HP:0100550	Tendon rupture	HP:0040282	ORPHA:56
3081	HGD	HP:0100593	Calcification of cartilage	HP:0040281	ORPHA:56
3081	HGD	HP:0003419	Low back pain	33/35	OMIM:203500
3081	HGD	HP:0003418	Back pain	HP:0040282	ORPHA:56
3081	HGD	HP:0010501	Limitation of knee mobility	7/58	OMIM:203500
3081	HGD	HP:0003593	Infantile onset	12/58	OMIM:203500
3081	HGD	HP:0003581	Adult onset	46/58	OMIM:203500
3081	HGD	HP:0100773	Cartilage destruction	HP:0040282	ORPHA:56
3081	HGD	HP:6000365	Brown pigmentation of the conjunctiva	-	OMIM:203500
3081	HGD	HP:0011982	Black pigment gallstones	HP:0040283	ORPHA:56
3081	HGD	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:56
3081	HGD	HP:0008419	Intervertebral disk degeneration	-	OMIM:203500
3081	HGD	HP:0004942	Aortic aneurysm	-	OMIM:203500
3081	HGD	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:56
3081	HGD	HP:0005645	Intervertebral disk calcification	HP:0040281	ORPHA:56
3081	HGD	HP:0004382	Mitral valve calcification	HP:0040282	ORPHA:56
3081	HGD	HP:0004382	Mitral valve calcification	-	OMIM:203500
3081	HGD	HP:0004380	Aortic valve calcification	HP:0040282	ORPHA:56
3081	HGD	HP:0004380	Aortic valve calcification	-	OMIM:203500
3081	HGD	HP:0003040	Arthropathy	-	OMIM:203500
3081	HGD	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:56
3081	HGD	HP:0000787	Nephrolithiasis	16/58	OMIM:203500
3081	HGD	HP:0000787	Nephrolithiasis	HP:0040282	ORPHA:56
3081	HGD	HP:0030764	Ochronosis	HP:0040281	ORPHA:56
3081	HGD	HP:0030764	Ochronosis	58/58	OMIM:203500
3081	HGD	HP:0000822	Hypertension	HP:0040283	ORPHA:56
3081	HGD	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:56
3081	HGD	HP:6000025	Dark cerumen	HP:0040283	ORPHA:56
3081	HGD	HP:6000025	Dark cerumen	6/13	OMIM:203500
3081	HGD	HP:6000027	Oil-drop brown pigmentation of the corneal limbus	HP:0040282	ORPHA:56
3081	HGD	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:56
3081	HGD	HP:0006467	Limited shoulder movement	2/58	OMIM:203500
3081	HGD	HP:0002829	Arthralgia	HP:0040281	ORPHA:56
3081	HGD	HP:0002829	Arthralgia	6/13	OMIM:203500
3081	HGD	HP:0002808	Kyphosis	31/58	OMIM:203500
3081	HGD	HP:0012213	Decreased glomerular filtration rate	1/58	OMIM:203500
3081	HGD	HP:0001507	Growth abnormality	-	OMIM:203500
3081	HGD	HP:0007832	Pigmentation of the sclera	HP:0040282	ORPHA:56
3081	HGD	HP:0007832	Pigmentation of the sclera	-	OMIM:203500
3081	HGD	HP:0011034	Amyloidosis	HP:0040283	ORPHA:56
3081	HGD	HP:0002948	Vertebral fusion	-	OMIM:203500
3081	HGD	HP:0000364	Hearing abnormality	HP:0040281	ORPHA:56
3081	HGD	HP:0000366	Abnormality of the nose	HP:0040282	ORPHA:56
3081	HGD	HP:0001650	Aortic valve stenosis	HP:0040282	ORPHA:56
3081	HGD	HP:0025612	Corneal astigmatism	HP:0040283	ORPHA:56
3081	HGD	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:56
3081	HGD	HP:0001654	Abnormal heart valve morphology	HP:0040282	ORPHA:56
3081	HGD	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:56
3081	HGD	HP:0007906	Ocular hypertension	HP:0040283	ORPHA:56
3081	HGD	HP:0001717	Coronary artery calcification	HP:0040281	ORPHA:56
3081	HGD	HP:0001717	Coronary artery calcification	-	OMIM:203500
3081	HGD	HP:0001718	Mitral stenosis	HP:0040283	ORPHA:56
3081	HGD	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:56
3081	HGD	HP:0000501	Glaucoma	HP:0040283	ORPHA:56
3081	HGD	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:56
3082	HGF	HP:0000007	Autosomal recessive inheritance	-	OMIM:608265
3082	HGF	HP:0000399	Prelingual sensorineural hearing impairment	-	OMIM:608265
3090	HIC1	HP:0001250	Seizure	HP:0040281	ORPHA:531
3090	HIC1	HP:0001251	Ataxia	HP:0040283	ORPHA:531
3090	HIC1	HP:0001339	Lissencephaly	HP:0040281	ORPHA:531
3090	HIC1	HP:0000177	Abnormal upper lip morphology	HP:0040281	ORPHA:531
3090	HIC1	HP:0000112	Nephropathy	HP:0040283	ORPHA:531
3090	HIC1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:531
3090	HIC1	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:531
3090	HIC1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:531
3090	HIC1	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:531
3090	HIC1	HP:0003196	Short nose	HP:0040281	ORPHA:531
3090	HIC1	HP:0000960	Sacral dimple	HP:0040283	ORPHA:531
3090	HIC1	HP:0000286	Epicanthus	HP:0040281	ORPHA:531
3090	HIC1	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:531
3090	HIC1	HP:0001539	Omphalocele	HP:0040283	ORPHA:531
3090	HIC1	HP:0001510	Growth delay	HP:0040281	ORPHA:531
3090	HIC1	HP:0000348	High forehead	HP:0040281	ORPHA:531
3090	HIC1	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:531
3090	HIC1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:531
3094	HINT1	HP:0001171	Split hand	HP:0040284	ORPHA:324442
3094	HINT1	HP:0002486	Myotonia	HP:0040281	ORPHA:324442
3094	HINT1	HP:0007289	Limb fasciculations	HP:0040282	ORPHA:324442
3094	HINT1	HP:0003760	Percussion-induced rapid rolling muscle contractions	HP:0040283	ORPHA:324442
3094	HINT1	HP:0002411	Myokymia	2/50	OMIM:137200
3094	HINT1	HP:0002411	Myokymia	HP:0040281	ORPHA:324442
3094	HINT1	HP:0003710	Exercise-induced muscle cramps	HP:0040282	ORPHA:324442
3094	HINT1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:324442
3094	HINT1	HP:0001284	Areflexia	HP:0040283	ORPHA:324442
3094	HINT1	HP:0001256	Intellectual disability, mild	HP:0040284	ORPHA:324442
3094	HINT1	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:324442
3094	HINT1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:324442
3094	HINT1	HP:0001328	Specific learning disability	HP:0040284	ORPHA:324442
3094	HINT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:137200
3094	HINT1	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:324442
3094	HINT1	HP:0008991	Exercise-induced leg cramps	HP:0040283	ORPHA:324442
3094	HINT1	HP:0008954	Intrinsic hand muscle atrophy	HP:0040283	ORPHA:324442
3094	HINT1	HP:0008944	Distal lower limb amyotrophy	HP:0040283	ORPHA:324442
3094	HINT1	HP:0004686	Short third metatarsal	HP:0040284	ORPHA:324442
3094	HINT1	HP:0003394	Muscle spasm	-	OMIM:137200
3094	HINT1	HP:0003390	Sensory axonal neuropathy	HP:0040283	ORPHA:324442
3094	HINT1	HP:0003390	Sensory axonal neuropathy	-	OMIM:137200
3094	HINT1	HP:0003376	Steppage gait	HP:0040283	ORPHA:324442
3094	HINT1	HP:0003444	EMG: chronic denervation signs	HP:0040281	ORPHA:324442
3094	HINT1	HP:0003438	Absent Achilles reflex	HP:0040282	ORPHA:324442
3094	HINT1	HP:0003409	Distal sensory impairment of all modalities	HP:0040283	ORPHA:324442
3094	HINT1	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040283	ORPHA:324442
3094	HINT1	HP:0100490	Camptodactyly of finger	HP:0040284	ORPHA:324442
3094	HINT1	HP:0003401	Paresthesia	HP:0040283	ORPHA:324442
3094	HINT1	HP:0002273	Tetraparesis	HP:0040283	ORPHA:324442
3094	HINT1	HP:0003552	Muscle stiffness	HP:0040283	ORPHA:324442
3094	HINT1	HP:0003552	Muscle stiffness	-	OMIM:137200
3094	HINT1	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:324442
3094	HINT1	HP:0007002	Motor axonal neuropathy	HP:0040282	ORPHA:324442
3094	HINT1	HP:0002380	Fasciculations	-	OMIM:137200
3094	HINT1	HP:0002359	Frequent falls	HP:0040282	ORPHA:324442
3094	HINT1	HP:0003676	Progressive	-	OMIM:137200
3094	HINT1	HP:0002356	Writer's cramp	HP:0040283	ORPHA:324442
3094	HINT1	HP:0003621	Juvenile onset	44/50	OMIM:137200
3094	HINT1	HP:0007178	Motor polyneuropathy	HP:0040282	ORPHA:324442
3094	HINT1	HP:0009077	Weakness of long finger extensor muscles	HP:0040283	ORPHA:324442
3094	HINT1	HP:0009053	Distal lower limb muscle weakness	HP:0040281	ORPHA:324442
3094	HINT1	HP:0009049	Peroneal muscle atrophy	HP:0040283	ORPHA:324442
3094	HINT1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:324442
3094	HINT1	HP:0009027	Foot dorsiflexor weakness	-	OMIM:137200
3094	HINT1	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040283	ORPHA:324442
3094	HINT1	HP:0011463	Childhood onset	4/50	OMIM:137200
3094	HINT1	HP:0011462	Young adult onset	2/50	OMIM:137200
3094	HINT1	HP:0009130	Hand muscle atrophy	HP:0040283	ORPHA:324442
3094	HINT1	HP:0012899	Handgrip myotonia	HP:0040282	ORPHA:324442
3094	HINT1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:324442
3094	HINT1	HP:0003236	Elevated circulating creatine kinase concentration	12/14	OMIM:137200
3094	HINT1	HP:0003202	Skeletal muscle atrophy	-	OMIM:137200
3094	HINT1	HP:0000975	Hyperhidrosis	HP:0040284	ORPHA:324442
3094	HINT1	HP:0000975	Hyperhidrosis	-	OMIM:137200
3094	HINT1	HP:0100288	EMG: myokymic discharges	HP:0040281	ORPHA:324442
3094	HINT1	HP:0034351	Neuromyotonia	44/46	OMIM:137200
3094	HINT1	HP:0002936	Distal sensory impairment	23/28	OMIM:137200
3094	HINT1	HP:0002943	Thoracic scoliosis	HP:0040284	ORPHA:324442
3094	HINT1	HP:0030198	Fatigable weakness of distal limb muscles	HP:0040282	ORPHA:324442
3094	HINT1	HP:0001771	Achilles tendon contracture	HP:0040283	ORPHA:324442
3094	HINT1	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:324442
3094	HINT1	HP:0001760	Abnormal foot morphology	-	OMIM:137200
3094	HINT1	HP:0001761	Pes cavus	HP:0040283	ORPHA:324442
3097	HIVEP2	HP:0001182	Tapered finger	2/3	OMIM:616977
3097	HIVEP2	HP:0009907	Attached earlobe	1/3	OMIM:616977
3097	HIVEP2	HP:0008551	Microtia	1/3	OMIM:616977
3097	HIVEP2	HP:0002421	Poor head control	1/3	OMIM:616977
3097	HIVEP2	HP:0001250	Seizure	HP:0040283	OMIM:616977
3097	HIVEP2	HP:0001252	Hypotonia	3/3	OMIM:616977
3097	HIVEP2	HP:0001251	Ataxia	1/3	OMIM:616977
3097	HIVEP2	HP:0001249	Intellectual disability	1/1	OMIM:616977
3097	HIVEP2	HP:0001263	Global developmental delay	3/3	OMIM:616977
3097	HIVEP2	HP:0025336	Delayed ability to sit	1/3	OMIM:616977
3097	HIVEP2	HP:0001385	Hip dysplasia	1/3	OMIM:616977
3097	HIVEP2	HP:0001332	Dystonia	1/3	OMIM:616977
3097	HIVEP2	HP:0033725	Thin corpus callosum	1/3	OMIM:616977
3097	HIVEP2	HP:0001344	Absent speech	-	OMIM:616977
3097	HIVEP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616977
3097	HIVEP2	HP:0000160	Narrow mouth	1/3	OMIM:616977
3097	HIVEP2	HP:0002020	Gastroesophageal reflux	-	OMIM:616977
3097	HIVEP2	HP:0002079	Hypoplasia of the corpus callosum	2/3	OMIM:616977
3097	HIVEP2	HP:0033128	Delayed ability to crawl	1/3	OMIM:616977
3097	HIVEP2	HP:0003593	Infantile onset	1/3	OMIM:616977
3097	HIVEP2	HP:0003577	Congenital onset	2/3	OMIM:616977
3097	HIVEP2	HP:0100710	Impulsivity	2/3	OMIM:616977
3097	HIVEP2	HP:0011968	Feeding difficulties	-	OMIM:616977
3097	HIVEP2	HP:0001007	Hirsutism	1/3	OMIM:616977
3097	HIVEP2	HP:0009765	Low hanging columella	1/3	OMIM:616977
3097	HIVEP2	HP:0002307	Drooling	1/3	OMIM:616977
3097	HIVEP2	HP:0000664	Synophrys	1/3	OMIM:616977
3097	HIVEP2	HP:0006913	Frontal cortical atrophy	1/3	OMIM:616977
3097	HIVEP2	HP:0031936	Delayed ability to walk	1/3	OMIM:616977
3097	HIVEP2	HP:0000752	Hyperactivity	2/3	OMIM:616977
3097	HIVEP2	HP:0000739	Anxiety	-	OMIM:616977
3097	HIVEP2	HP:0000750	Delayed speech and language development	2/3	OMIM:616977
3097	HIVEP2	HP:0000718	Aggressive behavior	1/3	OMIM:616977
3097	HIVEP2	HP:0000729	Autistic behavior	-	OMIM:616977
3097	HIVEP2	HP:0000252	Microcephaly	1/3	OMIM:616977
3097	HIVEP2	HP:0000219	Thin upper lip vermilion	1/3	OMIM:616977
3097	HIVEP2	HP:0000218	High palate	1/3	OMIM:616977
3097	HIVEP2	HP:0000212	Gingival overgrowth	1/3	OMIM:616977
3097	HIVEP2	HP:0001537	Umbilical hernia	1/3	OMIM:616977
3097	HIVEP2	HP:0001508	Failure to thrive	1/3	OMIM:616977
3097	HIVEP2	HP:0011094	Increased overbite	1/3	OMIM:616977
3097	HIVEP2	HP:0000348	High forehead	1/3	OMIM:616977
3097	HIVEP2	HP:0000316	Hypertelorism	1/3	OMIM:616977
3097	HIVEP2	HP:0001642	Pulmonic stenosis	1/3	OMIM:616977
3097	HIVEP2	HP:0000322	Short philtrum	1/3	OMIM:616977
3097	HIVEP2	HP:0000463	Anteverted nares	1/3	OMIM:616977
3097	HIVEP2	HP:0012450	Chronic constipation	1/3	OMIM:616977
3097	HIVEP2	HP:0001763	Pes planus	1/3	OMIM:616977
3097	HIVEP2	HP:0000431	Wide nasal bridge	2/3	OMIM:616977
3097	HIVEP2	HP:0000426	Prominent nasal bridge	-	OMIM:616977
3097	HIVEP2	HP:0000582	Upslanted palpebral fissure	1/3	OMIM:616977
3097	HIVEP2	HP:0000540	Hypermetropia	1/3	OMIM:616977
3098	HK1	HP:0001155	Abnormality of the hand	HP:0040282	ORPHA:99953
3098	HK1	HP:0002495	Impaired vibratory sensation	HP:0040281	ORPHA:99953
3098	HK1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
3098	HK1	HP:0001133	Constriction of peripheral visual field	-	OMIM:617460
3098	HK1	HP:0002460	Distal muscle weakness	-	OMIM:605285
3098	HK1	HP:6000559	Reduced erythrocyte hexokinase activity	1/1	OMIM:235700
3098	HK1	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:99953
3098	HK1	HP:0007230	Decreased distal sensory nerve action potential	HP:0040281	ORPHA:99953
3098	HK1	HP:0007210	Lower limb amyotrophy	HP:0040282	ORPHA:99953
3098	HK1	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:99953
3098	HK1	HP:0001272	Cerebellar atrophy	1/7	OMIM:618547
3098	HK1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:99953
3098	HK1	HP:0001288	Gait disturbance	-	OMIM:605285
3098	HK1	HP:0001283	Bulbar palsy	1/7	OMIM:618547
3098	HK1	HP:0001284	Areflexia	HP:0040281	ORPHA:99953
3098	HK1	HP:0001284	Areflexia	21/21	OMIM:605285
3098	HK1	HP:0001251	Ataxia	3/4	OMIM:618547
3098	HK1	HP:0001249	Intellectual disability	5/5	OMIM:618547
3098	HK1	HP:0001265	Hyporeflexia	-	OMIM:605285
3098	HK1	HP:0001263	Global developmental delay	7/7	OMIM:618547
3098	HK1	HP:0008755	Laryngotracheomalacia	2/7	OMIM:618547
3098	HK1	HP:0007401	Macular atrophy	-	OMIM:617460
3098	HK1	HP:0002509	Limb hypertonia	2/7	OMIM:618547
3098	HK1	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:99953
3098	HK1	HP:0012078	Motor conduction block	HP:0040281	ORPHA:99953
3098	HK1	HP:0025336	Delayed ability to sit	4/6	OMIM:618547
3098	HK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
3098	HK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:235700
3098	HK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:605285
3098	HK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
3098	HK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617460
3098	HK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618547
3098	HK1	HP:0002650	Scoliosis	2/7	OMIM:618547
3098	HK1	HP:0002650	Scoliosis	HP:0040283	OMIM:605285
3098	HK1	HP:0002650	Scoliosis	HP:0040283	ORPHA:99953
3098	HK1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
3098	HK1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
3098	HK1	HP:0007663	Reduced visual acuity	-	OMIM:617460
3098	HK1	HP:0008959	Distal upper limb muscle weakness	HP:0040282	ORPHA:99953
3098	HK1	HP:0008959	Distal upper limb muscle weakness	21/21	OMIM:605285
3098	HK1	HP:0008936	Axial hypotonia	1/7	OMIM:618547
3098	HK1	HP:0008944	Distal lower limb amyotrophy	21/21	OMIM:605285
3098	HK1	HP:0002007	Frontal bossing	1/7	OMIM:618547
3098	HK1	HP:0002079	Hypoplasia of the corpus callosum	6/7	OMIM:618547
3098	HK1	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	-	OMIM:605285
3098	HK1	HP:0003477	Peripheral axonal neuropathy	HP:0040281	ORPHA:99953
3098	HK1	HP:0002141	Gait imbalance	HP:0040283	ORPHA:99953
3098	HK1	HP:0003470	Paralysis	-	OMIM:605285
3098	HK1	HP:0003450	Axonal regeneration	-	OMIM:605285
3098	HK1	HP:0002119	Ventriculomegaly	1/7	OMIM:618547
3098	HK1	HP:0003431	Decreased motor nerve conduction velocity	HP:0040281	ORPHA:99953
3098	HK1	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:605285
3098	HK1	HP:0003409	Distal sensory impairment of all modalities	HP:0040281	ORPHA:99953
3098	HK1	HP:0003577	Congenital onset	-	OMIM:235700
3098	HK1	HP:0100704	Cerebral visual impairment	1/7	OMIM:618547
3098	HK1	HP:0011968	Feeding difficulties	3/7	OMIM:618547
3098	HK1	HP:0011947	Respiratory tract infection	2/7	OMIM:618547
3098	HK1	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:99953
3098	HK1	HP:0003676	Progressive	-	OMIM:605285
3098	HK1	HP:0010830	Impaired tactile sensation	HP:0040282	ORPHA:99953
3098	HK1	HP:0009830	Peripheral neuropathy	-	OMIM:605285
3098	HK1	HP:0001081	Cholelithiasis	-	OMIM:235700
3098	HK1	HP:0001082	Cholecystitis	-	OMIM:235700
3098	HK1	HP:0007108	Demyelinating peripheral neuropathy	HP:0040281	ORPHA:99953
3098	HK1	HP:0003621	Juvenile onset	8/19	OMIM:180100
3098	HK1	HP:0003621	Juvenile onset	1/8	OMIM:617460
3098	HK1	HP:0003621	Juvenile onset	31/31	OMIM:605285
3098	HK1	HP:0007182	Peripheral hypomyelination	-	OMIM:605285
3098	HK1	HP:0000639	Nystagmus	1/7	OMIM:618547
3098	HK1	HP:0000648	Optic atrophy	4/7	OMIM:618547
3098	HK1	HP:0000613	Photophobia	-	OMIM:617460
3098	HK1	HP:0001923	Reticulocytosis	-	OMIM:235700
3098	HK1	HP:0001930	Nonspherocytic hemolytic anemia	1/1	OMIM:235700
3098	HK1	HP:0009053	Distal lower limb muscle weakness	HP:0040281	ORPHA:99953
3098	HK1	HP:0009053	Distal lower limb muscle weakness	21/21	OMIM:605285
3098	HK1	HP:0000687	Widely spaced teeth	1/7	OMIM:618547
3098	HK1	HP:0000662	Nyctalopia	26/28	OMIM:180100
3098	HK1	HP:0000662	Nyctalopia	-	OMIM:617460
3098	HK1	HP:0004322	Short stature	2/7	OMIM:618547
3098	HK1	HP:0006970	Periventricular leukomalacia	1/7	OMIM:618547
3098	HK1	HP:0031936	Delayed ability to walk	2/7	OMIM:618547
3098	HK1	HP:0000750	Delayed speech and language development	4/5	OMIM:618547
3098	HK1	HP:0012799	Unilateral facial palsy	1/7	OMIM:618547
3098	HK1	HP:0011463	Childhood onset	3/19	OMIM:180100
3098	HK1	HP:0011463	Childhood onset	1/8	OMIM:617460
3098	HK1	HP:0011462	Young adult onset	8/19	OMIM:180100
3098	HK1	HP:0011462	Young adult onset	6/8	OMIM:617460
3098	HK1	HP:0009129	Upper limb amyotrophy	HP:0040282	ORPHA:99953
3098	HK1	HP:0004467	Preauricular pit	1/7	OMIM:618547
3098	HK1	HP:0034337	Claw hand deformity	-	OMIM:605285
3098	HK1	HP:0000952	Jaundice	1/1	OMIM:235700
3098	HK1	HP:0008081	Pes valgus	HP:0040283	ORPHA:99953
3098	HK1	HP:0000286	Epicanthus	1/7	OMIM:618547
3098	HK1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
3098	HK1	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:617460
3098	HK1	HP:0002827	Hip dislocation	1/7	OMIM:618547
3098	HK1	HP:0000219	Thin upper lip vermilion	1/7	OMIM:618547
3098	HK1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
3098	HK1	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:617460
3098	HK1	HP:0011096	Peripheral demyelination	HP:0040281	ORPHA:99953
3098	HK1	HP:0002936	Distal sensory impairment	HP:0040281	ORPHA:99953
3098	HK1	HP:0002936	Distal sensory impairment	21/21	OMIM:605285
3098	HK1	HP:0001618	Dysphonia	1/21	OMIM:605285
3098	HK1	HP:0002904	Hyperbilirubinemia	-	OMIM:235700
3098	HK1	HP:0000365	Hearing impairment	1/7	OMIM:618547
3098	HK1	HP:0000483	Astigmatism	1/7	OMIM:618547
3098	HK1	HP:0000486	Strabismus	2/7	OMIM:618547
3098	HK1	HP:0012469	Infantile spasms	2/7	OMIM:618547
3098	HK1	HP:0000463	Anteverted nares	1/7	OMIM:618547
3098	HK1	HP:0000473	Torticollis	2/7	OMIM:618547
3098	HK1	HP:0001763	Pes planus	2/7	OMIM:618547
3098	HK1	HP:0000414	Bulbous nose	1/7	OMIM:618547
3098	HK1	HP:0001744	Splenomegaly	-	OMIM:235700
3098	HK1	HP:0001760	Abnormal foot morphology	HP:0040281	ORPHA:99953
3098	HK1	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:99953
3098	HK1	HP:0001761	Pes cavus	HP:0040282	ORPHA:99953
3098	HK1	HP:0001761	Pes cavus	19/21	OMIM:605285
3098	HK1	HP:0005469	Flat occiput	1/7	OMIM:618547
3098	HK1	HP:0000510	Rod-cone dystrophy	3/7	OMIM:618547
3098	HK1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
3098	HK1	HP:0000508	Ptosis	1/21	OMIM:605285
3098	HK1	HP:0000575	Scotoma	5/18	OMIM:180100
3098	HK1	HP:0001895	Normochromic anemia	-	OMIM:235700
3098	HK1	HP:0001897	Normocytic anemia	-	OMIM:235700
3098	HK1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
3098	HK1	HP:0000543	Optic disc pallor	-	OMIM:617460
3098	HK1	HP:0000545	Myopia	-	OMIM:180100
3105	HLA-A	HP:0100832	Vitreous floaters	HP:0040282	ORPHA:179
3105	HLA-A	HP:0100533	Inflammatory abnormality of the eye	HP:0040282	ORPHA:179
3105	HLA-A	HP:0200056	Macular scar	HP:0040282	ORPHA:179
3105	HLA-A	HP:0030530	Arcuate scotoma	HP:0040283	ORPHA:179
3105	HLA-A	HP:0000613	Photophobia	HP:0040282	ORPHA:179
3105	HLA-A	HP:0000610	Abnormal choroid morphology	HP:0040281	ORPHA:179
3105	HLA-A	HP:0000622	Blurred vision	HP:0040282	ORPHA:179
3105	HLA-A	HP:0030644	Blind-spot enlargement	HP:0040282	ORPHA:179
3105	HLA-A	HP:0030609	Photoreceptor layer loss on macular OCT	HP:0040281	ORPHA:179
3105	HLA-A	HP:0100014	Epiretinal membrane	HP:0040282	ORPHA:179
3105	HLA-A	HP:0011531	Vitritis	HP:0040281	ORPHA:179
3105	HLA-A	HP:0011508	Macular hole	HP:0040282	ORPHA:179
3105	HLA-A	HP:0011506	Choroidal neovascularization	HP:0040283	ORPHA:179
3105	HLA-A	HP:0011505	Cystoid macular edema	HP:0040281	ORPHA:179
3105	HLA-A	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:179
3105	HLA-A	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:179
3105	HLA-A	HP:0007906	Ocular hypertension	HP:0040281	ORPHA:179
3105	HLA-A	HP:0030329	Retinal thinning	HP:0040282	ORPHA:179
3105	HLA-A	HP:0000518	Cataract	HP:0040282	ORPHA:179
3105	HLA-A	HP:0000572	Visual loss	HP:0040281	ORPHA:179
3105	HLA-A	HP:0000541	Retinal detachment	HP:0040283	ORPHA:179
3105	HLA-A	HP:0000532	Abnormal chorioretinal morphology	HP:0040281	ORPHA:179
3105	HLA-A	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:179
3106	HLA-B	HP:6000502	Elevated circulating calprotectin concentration	HP:0040282	ORPHA:397
3106	HLA-B	HP:0003765	Psoriasiform dermatitis	-	OMIM:106300
3106	HLA-B	HP:0001123	Visual field defect	HP:0040283	ORPHA:397
3106	HLA-B	HP:0003781	Excessive salivation	HP:0040282	ORPHA:36426
3106	HLA-B	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:117
3106	HLA-B	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:117
3106	HLA-B	HP:0001101	Iritis	HP:0040282	ORPHA:29207
3106	HLA-B	HP:0001297	Stroke	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0100806	Sepsis	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0100809	Scalp tenderness	HP:0040283	ORPHA:397
3106	HLA-B	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:117
3106	HLA-B	HP:0001269	Hemiparesis	HP:0040282	ORPHA:117
3106	HLA-B	HP:0001287	Meningitis	HP:0040283	ORPHA:397
3106	HLA-B	HP:0001287	Meningitis	HP:0040281	ORPHA:117
3106	HLA-B	HP:0001289	Confusion	HP:0040282	ORPHA:117
3106	HLA-B	HP:0001288	Gait disturbance	HP:0040282	ORPHA:117
3106	HLA-B	HP:0001250	Seizure	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0001250	Seizure	HP:0040283	ORPHA:117
3106	HLA-B	HP:0001251	Ataxia	HP:0040283	ORPHA:397
3106	HLA-B	HP:0001251	Ataxia	HP:0040283	ORPHA:117
3106	HLA-B	HP:0001260	Dysarthria	HP:0040283	ORPHA:397
3106	HLA-B	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:117
3106	HLA-B	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:397
3106	HLA-B	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:117
3106	HLA-B	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0000099	Glomerulonephritis	HP:0040284	ORPHA:117
3106	HLA-B	HP:0001399	Hepatic failure	HP:0040283	ORPHA:397
3106	HLA-B	HP:0001369	Arthritis	HP:0040282	ORPHA:397
3106	HLA-B	HP:0001369	Arthritis	HP:0040281	ORPHA:29207
3106	HLA-B	HP:0001369	Arthritis	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0001369	Arthritis	HP:0040281	ORPHA:117
3106	HLA-B	HP:0001386	Joint swelling	HP:0040281	ORPHA:29207
3106	HLA-B	HP:0001387	Joint stiffness	HP:0040281	ORPHA:397
3106	HLA-B	HP:0001387	Joint stiffness	HP:0040281	ORPHA:29207
3106	HLA-B	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:117
3106	HLA-B	HP:0000031	Epididymitis	HP:0040283	ORPHA:117
3106	HLA-B	HP:0033834	Malaise	HP:0040282	ORPHA:397
3106	HLA-B	HP:0033834	Malaise	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0008843	Hip osteoarthritis	-	OMIM:106300
3106	HLA-B	HP:0012089	Arteritis	HP:0040281	ORPHA:3287
3106	HLA-B	HP:0001324	Muscle weakness	HP:0040283	ORPHA:397
3106	HLA-B	HP:0001324	Muscle weakness	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:29207
3106	HLA-B	HP:0002638	Superficial thrombophlebitis	HP:0040282	ORPHA:117
3106	HLA-B	HP:0002637	Cerebral ischemia	HP:0040281	ORPHA:397
3106	HLA-B	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:117
3106	HLA-B	HP:0002633	Vasculitis	HP:0040281	ORPHA:397
3106	HLA-B	HP:0002633	Vasculitis	HP:0040281	ORPHA:3287
3106	HLA-B	HP:0002633	Vasculitis	HP:0040281	ORPHA:117
3106	HLA-B	HP:0002647	Aortic dissection	HP:0040283	ORPHA:397
3106	HLA-B	HP:0002617	Vascular dilatation	HP:0040281	ORPHA:3287
3106	HLA-B	HP:0000155	Oral ulcer	HP:0040281	ORPHA:117
3106	HLA-B	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:117
3106	HLA-B	HP:0012121	Panuveitis	HP:0040282	ORPHA:117
3106	HLA-B	HP:0012122	Anterior uveitis	-	OMIM:106300
3106	HLA-B	HP:0001426	Non-Mendelian inheritance	-	OMIM:106300
3106	HLA-B	HP:0002754	Osteomyelitis	HP:0040281	ORPHA:29207
3106	HLA-B	HP:0032554	Absent pulse	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0500006	Urethritis	HP:0040283	ORPHA:29207
3106	HLA-B	HP:0031246	Nonproductive cough	HP:0040283	ORPHA:397
3106	HLA-B	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:117
3106	HLA-B	HP:6000944	Carotidynia	HP:0040282	ORPHA:3287
3106	HLA-B	HP:6000945	Asymmetric blood pressure between arms	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0002024	Malabsorption	HP:0040283	ORPHA:117
3106	HLA-B	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:36426
3106	HLA-B	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:117
3106	HLA-B	HP:0002037	Inflammation of the large intestine	HP:0040282	ORPHA:29207
3106	HLA-B	HP:0002037	Inflammation of the large intestine	-	OMIM:106300
3106	HLA-B	HP:0002027	Abdominal pain	HP:0040283	ORPHA:397
3106	HLA-B	HP:0002027	Abdominal pain	HP:0040282	ORPHA:117
3106	HLA-B	HP:0002027	Abdominal pain	HP:0040282	ORPHA:29207
3106	HLA-B	HP:0002027	Abdominal pain	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0040313	Oligoarthritis	-	OMIM:106300
3106	HLA-B	HP:0003326	Myalgia	HP:0040283	ORPHA:397
3106	HLA-B	HP:0003326	Myalgia	HP:0040281	ORPHA:117
3106	HLA-B	HP:0003326	Myalgia	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0002014	Diarrhea	HP:0040284	ORPHA:117
3106	HLA-B	HP:0002014	Diarrhea	HP:0040281	ORPHA:29207
3106	HLA-B	HP:0002014	Diarrhea	HP:0040281	ORPHA:36426
3106	HLA-B	HP:0002015	Dysphagia	HP:0040282	ORPHA:36426
3106	HLA-B	HP:0100545	Arterial stenosis	HP:0040281	ORPHA:3287
3106	HLA-B	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:29207
3106	HLA-B	HP:0002094	Dyspnea	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0002094	Dyspnea	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0002092	Pulmonary arterial hypertension	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:29207
3106	HLA-B	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0002076	Migraine	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0002076	Migraine	HP:0040281	ORPHA:117
3106	HLA-B	HP:0002043	Esophageal stricture	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0002039	Anorexia	HP:0040281	ORPHA:397
3106	HLA-B	HP:0002039	Anorexia	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0002039	Anorexia	HP:0040283	ORPHA:117
3106	HLA-B	HP:0100518	Dysuria	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0034438	Balanitis	HP:0040283	ORPHA:29207
3106	HLA-B	HP:0033123	Elevated circulating osteopontin level	HP:0040282	ORPHA:397
3106	HLA-B	HP:0100584	Endocarditis	HP:0040283	ORPHA:117
3106	HLA-B	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:397
3106	HLA-B	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0002102	Pleuritis	HP:0040283	ORPHA:117
3106	HLA-B	HP:0002103	Abnormal pleura morphology	HP:0040283	ORPHA:397
3106	HLA-B	HP:0002103	Abnormal pleura morphology	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0002103	Abnormal pleura morphology	HP:0040282	ORPHA:29207
3106	HLA-B	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:117
3106	HLA-B	HP:0002105	Hemoptysis	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0002105	Hemoptysis	HP:0040283	ORPHA:117
3106	HLA-B	HP:0003419	Low back pain	HP:0040282	ORPHA:29207
3106	HLA-B	HP:0003418	Back pain	-	OMIM:106300
3106	HLA-B	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0011899	Hyperfibrinogenemia	HP:0040282	ORPHA:397
3106	HLA-B	HP:0003401	Paresthesia	HP:0040283	ORPHA:397
3106	HLA-B	HP:0003401	Paresthesia	HP:0040283	ORPHA:117
3106	HLA-B	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:117
3106	HLA-B	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:397
3106	HLA-B	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040283	ORPHA:29207
3106	HLA-B	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:117
3106	HLA-B	HP:0002202	Pleural effusion	HP:0040283	ORPHA:117
3106	HLA-B	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0002206	Pulmonary fibrosis	HP:0040283	ORPHA:29207
3106	HLA-B	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:117
3106	HLA-B	HP:0100773	Cartilage destruction	HP:0040281	ORPHA:29207
3106	HLA-B	HP:0100776	Recurrent pharyngitis	HP:0040283	ORPHA:397
3106	HLA-B	HP:0100792	Acantholysis	HP:0040281	ORPHA:36426
3106	HLA-B	HP:0100796	Orchitis	HP:0040281	ORPHA:117
3106	HLA-B	HP:0100721	Mediastinal lymphadenopathy	HP:0040283	ORPHA:397
3106	HLA-B	HP:0100735	Hypertensive crisis	HP:0040281	ORPHA:3287
3106	HLA-B	HP:0100749	Chest pain	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0100758	Gangrene	HP:0040283	ORPHA:397
3106	HLA-B	HP:0100758	Gangrene	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0100758	Gangrene	HP:0040283	ORPHA:117
3106	HLA-B	HP:0008391	Dystrophic fingernails	HP:0040281	ORPHA:29207
3106	HLA-B	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:117
3106	HLA-B	HP:0001061	Acne	HP:0040282	ORPHA:117
3106	HLA-B	HP:0002367	Visual hallucination	HP:0040283	ORPHA:397
3106	HLA-B	HP:0002376	Developmental regression	HP:0040283	ORPHA:117
3106	HLA-B	HP:0002354	Memory impairment	HP:0040283	ORPHA:117
3106	HLA-B	HP:0002321	Vertigo	HP:0040283	ORPHA:397
3106	HLA-B	HP:0002321	Vertigo	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0002321	Vertigo	HP:0040283	ORPHA:117
3106	HLA-B	HP:0002315	Headache	HP:0040281	ORPHA:397
3106	HLA-B	HP:0002315	Headache	HP:0040282	ORPHA:117
3106	HLA-B	HP:0002315	Headache	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0200020	Corneal erosion	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0100653	Optic neuritis	HP:0040283	ORPHA:117
3106	HLA-B	HP:0100654	Retrobulbar optic neuritis	HP:0040283	ORPHA:117
3106	HLA-B	HP:0200034	Papule	HP:0040281	ORPHA:117
3106	HLA-B	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:397
3106	HLA-B	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:117
3106	HLA-B	HP:0100614	Myositis	HP:0040283	ORPHA:117
3106	HLA-B	HP:0200039	Pustule	HP:0040281	ORPHA:29207
3106	HLA-B	HP:0200039	Pustule	HP:0040282	ORPHA:117
3106	HLA-B	HP:0200042	Skin ulcer	HP:0040283	ORPHA:397
3106	HLA-B	HP:0200042	Skin ulcer	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0010783	Erythema	HP:0040281	ORPHA:36426
3106	HLA-B	HP:0100686	Enthesitis	HP:0040281	ORPHA:29207
3106	HLA-B	HP:0100686	Enthesitis	-	OMIM:106300
3106	HLA-B	HP:0004970	Ascending tubular aorta aneurysm	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:117
3106	HLA-B	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:117
3106	HLA-B	HP:0020141	Blood pressure substantially higher in legs than arms	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:117
3106	HLA-B	HP:4000041	AA amyloidosis	HP:0040283	ORPHA:117
3106	HLA-B	HP:0000639	Nystagmus	HP:0040283	ORPHA:397
3106	HLA-B	HP:0000651	Diplopia	HP:0040283	ORPHA:397
3106	HLA-B	HP:0000648	Optic atrophy	HP:0040283	ORPHA:397
3106	HLA-B	HP:0000618	Blindness	HP:0040283	ORPHA:117
3106	HLA-B	HP:0000613	Photophobia	HP:0040281	ORPHA:117
3106	HLA-B	HP:0000613	Photophobia	HP:0040283	ORPHA:29207
3106	HLA-B	HP:0000613	Photophobia	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0001945	Fever	HP:0040281	ORPHA:397
3106	HLA-B	HP:0001945	Fever	HP:0040281	ORPHA:117
3106	HLA-B	HP:0001945	Fever	HP:0040283	ORPHA:29207
3106	HLA-B	HP:0001945	Fever	HP:0040281	ORPHA:3287
3106	HLA-B	HP:0001945	Fever	HP:0040281	ORPHA:36426
3106	HLA-B	HP:0001960	Hypokalemic metabolic alkalosis	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0001954	Recurrent fever	HP:0040283	ORPHA:117
3106	HLA-B	HP:0000621	Entropion	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0001920	Renal artery stenosis	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0001903	Anemia	HP:0040282	ORPHA:397
3106	HLA-B	HP:0001903	Anemia	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0001903	Anemia	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:117
3106	HLA-B	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0012735	Cough	HP:0040283	ORPHA:397
3106	HLA-B	HP:0012735	Cough	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0012733	Macule	HP:0040281	ORPHA:36426
3106	HLA-B	HP:0000737	Irritability	HP:0040283	ORPHA:117
3106	HLA-B	HP:0000716	Depression	HP:0040282	ORPHA:397
3106	HLA-B	HP:0000708	Atypical behavior	HP:0040283	ORPHA:117
3106	HLA-B	HP:0000795	Abnormality of the urethra	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0000790	Hematuria	HP:0040283	ORPHA:397
3106	HLA-B	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:397
3106	HLA-B	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:117
3106	HLA-B	HP:0004417	Intermittent claudication	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:397
3106	HLA-B	HP:0030783	Increased circulating interleukin 6 concentration	HP:0040282	ORPHA:397
3106	HLA-B	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:397
3106	HLA-B	HP:0100326	Immunologic hypersensitivity	HP:0040282	ORPHA:117
3106	HLA-B	HP:0012819	Myocarditis	HP:0040283	ORPHA:117
3106	HLA-B	HP:0000822	Hypertension	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0003249	Genital ulcers	HP:0040282	ORPHA:117
3106	HLA-B	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	HP:0040283	ORPHA:397
3106	HLA-B	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:397
3106	HLA-B	HP:0000988	Skin rash	HP:0040282	ORPHA:29207
3106	HLA-B	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:29207
3106	HLA-B	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:36426
3106	HLA-B	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:117
3106	HLA-B	HP:0011675	Arrhythmia	HP:0040283	ORPHA:397
3106	HLA-B	HP:0011675	Arrhythmia	-	OMIM:106300
3106	HLA-B	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:29207
3106	HLA-B	HP:0001596	Alopecia	HP:0040282	ORPHA:397
3106	HLA-B	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:397
3106	HLA-B	HP:0002829	Arthralgia	HP:0040283	ORPHA:397
3106	HLA-B	HP:0002829	Arthralgia	HP:0040282	ORPHA:117
3106	HLA-B	HP:0002829	Arthralgia	HP:0040281	ORPHA:29207
3106	HLA-B	HP:0002829	Arthralgia	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0002808	Kyphosis	-	OMIM:106300
3106	HLA-B	HP:0025532	Positive pathergy test	HP:0040282	ORPHA:117
3106	HLA-B	HP:0012219	Erythema nodosum	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0012219	Erythema nodosum	HP:0040283	ORPHA:29207
3106	HLA-B	HP:0012219	Erythema nodosum	HP:0040282	ORPHA:117
3106	HLA-B	HP:0030016	Dyspareunia	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0000206	Glossitis	HP:0040283	ORPHA:397
3106	HLA-B	HP:0007813	Nongranulomatous uveitis	HP:0040282	ORPHA:117
3106	HLA-B	HP:0012378	Fatigue	HP:0040281	ORPHA:397
3106	HLA-B	HP:0012378	Fatigue	HP:0040281	ORPHA:117
3106	HLA-B	HP:0012378	Fatigue	HP:0040281	ORPHA:36426
3106	HLA-B	HP:0012378	Fatigue	HP:0040281	ORPHA:3287
3106	HLA-B	HP:0005244	Gastrointestinal infarctions	HP:0040283	ORPHA:397
3106	HLA-B	HP:0005244	Gastrointestinal infarctions	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0005216	Impaired mastication	HP:0040281	ORPHA:397
3106	HLA-B	HP:0006554	Acute hepatic failure	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0002923	Rheumatoid factor positive	0/7	OMIM:106300
3106	HLA-B	HP:0000365	Hearing impairment	HP:0040283	ORPHA:397
3106	HLA-B	HP:0012317	Sacroiliac arthritis	HP:0040283	ORPHA:29207
3106	HLA-B	HP:0012317	Sacroiliac arthritis	-	OMIM:106300
3106	HLA-B	HP:0001646	Abnormal aortic valve morphology	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:397
3106	HLA-B	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0001658	Myocardial infarction	HP:0040282	ORPHA:3287
3106	HLA-B	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:117
3106	HLA-B	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:29207
3106	HLA-B	HP:0001659	Aortic regurgitation	-	OMIM:106300
3106	HLA-B	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:117
3106	HLA-B	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:3287
3106	HLA-B	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:117
3106	HLA-B	HP:0030164	Jaw claudication	HP:0040282	ORPHA:397
3106	HLA-B	HP:0030166	Night sweats	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:117
3106	HLA-B	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:397
3106	HLA-B	HP:0001733	Pancreatitis	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0001733	Pancreatitis	HP:0040283	ORPHA:117
3106	HLA-B	HP:0001701	Pericarditis	HP:0040283	ORPHA:397
3106	HLA-B	HP:0001701	Pericarditis	HP:0040283	ORPHA:29207
3106	HLA-B	HP:0001701	Pericarditis	HP:0040283	ORPHA:117
3106	HLA-B	HP:0000488	Retinopathy	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0000488	Retinopathy	HP:0040283	ORPHA:117
3106	HLA-B	HP:0011107	Recurrent aphthous stomatitis	HP:0040281	ORPHA:29207
3106	HLA-B	HP:0011107	Recurrent aphthous stomatitis	HP:0040281	ORPHA:117
3106	HLA-B	HP:0001744	Splenomegaly	HP:0040283	ORPHA:117
3106	HLA-B	HP:0000421	Epistaxis	HP:0040283	ORPHA:397
3106	HLA-B	HP:0005413	Increased alpha-globulin	HP:0040282	ORPHA:397
3106	HLA-B	HP:0000518	Cataract	HP:0040283	ORPHA:117
3106	HLA-B	HP:0001824	Weight loss	HP:0040281	ORPHA:397
3106	HLA-B	HP:0001824	Weight loss	HP:0040283	ORPHA:117
3106	HLA-B	HP:0001824	Weight loss	HP:0040283	ORPHA:29207
3106	HLA-B	HP:0001824	Weight loss	HP:0040281	ORPHA:36426
3106	HLA-B	HP:0001824	Weight loss	HP:0040281	ORPHA:3287
3106	HLA-B	HP:0000509	Conjunctivitis	HP:0040281	ORPHA:29207
3106	HLA-B	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0000508	Ptosis	HP:0040283	ORPHA:397
3106	HLA-B	HP:0000505	Visual impairment	HP:0040282	ORPHA:397
3106	HLA-B	HP:0000505	Visual impairment	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0000505	Visual impairment	HP:0040283	ORPHA:36426
3106	HLA-B	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:397
3106	HLA-B	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040281	ORPHA:397
3106	HLA-B	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040283	ORPHA:29207
3106	HLA-B	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040283	ORPHA:3287
3106	HLA-B	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:117
3106	HLA-B	HP:0000554	Uveitis	HP:0040283	ORPHA:29207
3106	HLA-B	HP:0000572	Visual loss	HP:0040283	ORPHA:397
3106	HLA-B	HP:0001872	Abnormality of thrombocytes	HP:0040283	ORPHA:397
3106	HLA-B	HP:0001874	Abnormality of neutrophils	HP:0040282	ORPHA:36426
3106	HLA-B	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:36426
3107	HLA-C	HP:0003765	Psoriasiform dermatitis	-	OMIM:177900
3107	HLA-C	HP:0001369	Arthritis	-	OMIM:177900
3107	HLA-C	HP:0001426	Non-Mendelian inheritance	-	OMIM:177900
3107	HLA-C	HP:0025088	Onychomadesis	-	OMIM:177900
3107	HLA-C	HP:0001806	Onycholysis	-	OMIM:177900
3107	HLA-C	HP:0001803	Nail pits	-	OMIM:177900
3110	MNX1	HP:0001153	Septate vagina	HP:0040283	ORPHA:1552
3110	MNX1	HP:0001153	Septate vagina	-	OMIM:176450
3110	MNX1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3110	MNX1	HP:0007293	Anterior sacral meningocele	HP:0040282	ORPHA:1552
3110	MNX1	HP:0007293	Anterior sacral meningocele	-	OMIM:176450
3110	MNX1	HP:0001293	Cranial nerve compression	-	OMIM:131300
3110	MNX1	HP:0100806	Sepsis	-	OMIM:176450
3110	MNX1	HP:0025247	Dermoid cyst	HP:0040283	ORPHA:1552
3110	MNX1	HP:0001287	Meningitis	HP:0040284	ORPHA:1552
3110	MNX1	HP:0001252	Hypotonia	2/7	OMIM:615777
3110	MNX1	HP:0001249	Intellectual disability	5/7	OMIM:615777
3110	MNX1	HP:0001263	Global developmental delay	-	OMIM:176450
3110	MNX1	HP:0001263	Global developmental delay	-	OMIM:615777
3110	MNX1	HP:0002515	Waddling gait	54/102	OMIM:131300
3110	MNX1	HP:0003829	Typified by incomplete penetrance	-	OMIM:176450
3110	MNX1	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:1552
3110	MNX1	HP:0000085	Horseshoe kidney	-	OMIM:176450
3110	MNX1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:1552
3110	MNX1	HP:0000076	Vesicoureteral reflux	-	OMIM:176450
3110	MNX1	HP:0012033	Sacral lipoma	HP:0040283	ORPHA:1552
3110	MNX1	HP:0001382	Joint hypermobility	-	OMIM:615777
3110	MNX1	HP:0000020	Urinary incontinence	-	OMIM:176450
3110	MNX1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3110	MNX1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3110	MNX1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3110	MNX1	HP:0001324	Muscle weakness	40/96	OMIM:131300
3110	MNX1	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:1552
3110	MNX1	HP:0000011	Neurogenic bladder	-	OMIM:176450
3110	MNX1	HP:0000010	Recurrent urinary tract infections	HP:0040284	ORPHA:1552
3110	MNX1	HP:0000010	Recurrent urinary tract infections	-	OMIM:176450
3110	MNX1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3110	MNX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3110	MNX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3110	MNX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:176450
3110	MNX1	HP:0002650	Scoliosis	12/14	OMIM:131300
3110	MNX1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3110	MNX1	HP:0002617	Vascular dilatation	-	OMIM:176450
3110	MNX1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3110	MNX1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3110	MNX1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3110	MNX1	HP:0000175	Cleft palate	2/7	OMIM:615777
3110	MNX1	HP:0000143	Rectovaginal fistula	-	OMIM:176450
3110	MNX1	HP:0000125	Pelvic kidney	HP:0040283	ORPHA:1552
3110	MNX1	HP:0002025	Anal stenosis	-	OMIM:176450
3110	MNX1	HP:0002025	Anal stenosis	HP:0040282	ORPHA:1552
3110	MNX1	HP:0002023	Anal atresia	HP:0040282	ORPHA:1552
3110	MNX1	HP:0002023	Anal atresia	-	OMIM:176450
3110	MNX1	HP:0100559	Lower limb asymmetry	HP:0040284	ORPHA:1552
3110	MNX1	HP:0003388	Easy fatigability	36/76	OMIM:131300
3110	MNX1	HP:0010447	Anal fistula	HP:0040283	ORPHA:1552
3110	MNX1	HP:0010447	Anal fistula	-	OMIM:176450
3110	MNX1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3110	MNX1	HP:0002144	Tethered cord	4/22	OMIM:176450
3110	MNX1	HP:0002144	Tethered cord	HP:0040283	ORPHA:1552
3110	MNX1	HP:0004796	Gastrointestinal obstruction	-	OMIM:176450
3110	MNX1	HP:0003419	Low back pain	HP:0040282	ORPHA:1552
3110	MNX1	HP:0003577	Congenital onset	22/22	OMIM:176450
3110	MNX1	HP:0002242	Abnormal intestine morphology	HP:0040283	ORPHA:1552
3110	MNX1	HP:6000336	Rectal duplication	HP:0040283	ORPHA:1552
3110	MNX1	HP:0003510	Severe short stature	7/7	OMIM:615777
3110	MNX1	HP:0002315	Headache	-	OMIM:131300
3110	MNX1	HP:0004976	Knee dislocation	6/7	OMIM:615777
3110	MNX1	HP:0008517	Aplasia/Hypoplasia of the sacrum	HP:0040281	ORPHA:1552
3110	MNX1	HP:0200040	Epidermoid cyst	HP:0040283	ORPHA:1552
3110	MNX1	HP:0009803	Short phalanx of finger	-	OMIM:615777
3110	MNX1	HP:0009791	Bifid sacrum	-	OMIM:176450
3110	MNX1	HP:0009790	Hemisacrum	HP:0040282	ORPHA:1552
3110	MNX1	HP:0009790	Hemisacrum	21/22	OMIM:176450
3110	MNX1	HP:0009793	Presacral teratoma	HP:0040283	ORPHA:1552
3110	MNX1	HP:0009793	Presacral teratoma	-	OMIM:176450
3110	MNX1	HP:0032155	Abdominal cramps	HP:0040282	ORPHA:1552
3110	MNX1	HP:0009789	Perianal abscess	-	OMIM:176450
3110	MNX1	HP:0009763	Limb pain	63/92	OMIM:131300
3110	MNX1	HP:0003621	Juvenile onset	-	OMIM:131300
3110	MNX1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3110	MNX1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3110	MNX1	HP:6001056	Out-toeing	-	OMIM:131300
3110	MNX1	HP:0000651	Diplopia	-	OMIM:131300
3110	MNX1	HP:0001956	Truncal obesity	2/7	OMIM:615777
3110	MNX1	HP:0001903	Anemia	HP:0040283	OMIM:131300
3110	MNX1	HP:0030451	Mesenteric cyst	HP:0040283	ORPHA:1552
3110	MNX1	HP:0010049	Short metacarpal	-	OMIM:615777
3110	MNX1	HP:0000678	Dental crowding	-	OMIM:615777
3110	MNX1	HP:0000670	Carious teeth	-	OMIM:131300
3110	MNX1	HP:0011304	Broad thumb	2/7	OMIM:615777
3110	MNX1	HP:0000668	Hypodontia	-	OMIM:615777
3110	MNX1	HP:0000664	Synophrys	-	OMIM:615777
3110	MNX1	HP:0004396	Poor appetite	-	OMIM:131300
3110	MNX1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3110	MNX1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3110	MNX1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3110	MNX1	HP:0003026	Short long bone	7/7	OMIM:615777
3110	MNX1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3110	MNX1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3110	MNX1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3110	MNX1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3110	MNX1	HP:0000750	Delayed speech and language development	-	OMIM:615777
3110	MNX1	HP:0011461	Fetal onset	7/7	OMIM:615777
3110	MNX1	HP:0000774	Narrow chest	2/7	OMIM:615777
3110	MNX1	HP:0030736	Sacrococcygeal teratoma	HP:0040281	ORPHA:1552
3110	MNX1	HP:0000926	Platyspondyly	1/7	OMIM:615777
3110	MNX1	HP:0003180	Flat acetabular roof	-	OMIM:615777
3110	MNX1	HP:0004482	Relative macrocephaly	-	OMIM:615777
3110	MNX1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3110	MNX1	HP:0034231	Sigmoid kidney	HP:0040283	ORPHA:1552
3110	MNX1	HP:0000813	Bicornuate uterus	-	OMIM:176450
3110	MNX1	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:1552
3110	MNX1	HP:0000823	Delayed puberty	-	OMIM:131300
3110	MNX1	HP:0000894	Short clavicles	-	OMIM:615777
3110	MNX1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3110	MNX1	HP:0003270	Abdominal distention	HP:0040282	ORPHA:1552
3110	MNX1	HP:0003270	Abdominal distention	-	OMIM:176450
3110	MNX1	HP:0010305	Absence of the sacrum	1/22	OMIM:176450
3110	MNX1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3110	MNX1	HP:0000286	Epicanthus	1/7	OMIM:615777
3110	MNX1	HP:0000280	Coarse facial features	2/7	OMIM:615777
3110	MNX1	HP:0002827	Hip dislocation	3/7	OMIM:615777
3110	MNX1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:1552
3110	MNX1	HP:0000252	Microcephaly	-	OMIM:615777
3110	MNX1	HP:0002857	Genu valgum	-	OMIM:131300
3110	MNX1	HP:0001533	Slender build	-	OMIM:131300
3110	MNX1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3110	MNX1	HP:0007807	Optic nerve compression	-	OMIM:131300
3110	MNX1	HP:0012368	Flat face	7/7	OMIM:615777
3110	MNX1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3110	MNX1	HP:0000365	Hearing impairment	10/67	OMIM:131300
3110	MNX1	HP:0000343	Long philtrum	1/7	OMIM:615777
3110	MNX1	HP:0011001	Increased bone mineral density	-	OMIM:131300
3110	MNX1	HP:0000311	Round face	2/7	OMIM:615777
3110	MNX1	HP:0002970	Genu varum	-	OMIM:615777
3110	MNX1	HP:0000303	Mandibular prognathia	-	OMIM:131300
3110	MNX1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3110	MNX1	HP:0012450	Chronic constipation	HP:0040282	ORPHA:1552
3110	MNX1	HP:0012450	Chronic constipation	-	OMIM:176450
3110	MNX1	HP:0000470	Short neck	1/7	OMIM:615777
3110	MNX1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3110	MNX1	HP:0001763	Pes planus	1/7	OMIM:615777
3110	MNX1	HP:0001840	Metatarsus adductus	-	OMIM:615777
3110	MNX1	HP:0000520	Proptosis	2/4	OMIM:131300
3110	MNX1	HP:0000520	Proptosis	7/7	OMIM:615777
3110	MNX1	HP:0000592	Blue sclerae	2/7	OMIM:615777
3110	MNX1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3110	MNX1	HP:0012514	Lower limb pain	4/4	OMIM:131300
3113	HLA-DPA1	HP:0033557	Anti-proteinase 3 antibody positivity	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0033559	Anti-myeloperoxidase antibody positivity	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0032230	Cytoplasmic antineutrophil antibody positivity	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0100820	Glomerulopathy	HP:0040281	ORPHA:900
3113	HLA-DPA1	HP:0001287	Meningitis	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0001250	Seizure	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0033608	Pulmonary nodule	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0000099	Glomerulonephritis	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0000093	Proteinuria	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0000071	Ureteral stenosis	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0001369	Arthritis	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0000024	Prostatitis	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0002637	Cerebral ischemia	HP:0040281	ORPHA:900
3113	HLA-DPA1	HP:0002633	Vasculitis	HP:0040281	ORPHA:900
3113	HLA-DPA1	HP:0000163	Abnormal oral cavity morphology	HP:0040281	ORPHA:900
3113	HLA-DPA1	HP:0025420	Diffuse alveolar hemorrhage	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0003326	Myalgia	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0100532	Scleritis	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0100533	Inflammatory abnormality of the eye	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0100539	Periorbital edema	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0002102	Pleuritis	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0002113	Pulmonary infiltrates	HP:0040281	ORPHA:900
3113	HLA-DPA1	HP:0002105	Hemoptysis	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0002202	Pleural effusion	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:900
3113	HLA-DPA1	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0100749	Chest pain	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0100758	Gangrene	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0002315	Headache	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0200034	Papule	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0200042	Skin ulcer	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0002301	Hemiplegia	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0001945	Fever	HP:0040281	ORPHA:900
3113	HLA-DPA1	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0012735	Cough	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0034104	Anti-neutrophil elastase antibody positivity	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0000790	Hematuria	HP:0040281	ORPHA:900
3113	HLA-DPA1	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0000822	Hypertension	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0000979	Purpura	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0000988	Skin rash	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0011675	Arrhythmia	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0002829	Arthralgia	HP:0040281	ORPHA:900
3113	HLA-DPA1	HP:0000246	Sinusitis	HP:0040281	ORPHA:900
3113	HLA-DPA1	HP:0006510	Chronic pulmonary obstruction	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0012378	Fatigue	HP:0040281	ORPHA:900
3113	HLA-DPA1	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0000388	Otitis media	HP:0040281	ORPHA:900
3113	HLA-DPA1	HP:0005214	Intestinal obstruction	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0006535	Recurrent intrapulmonary hemorrhage	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0001607	Subglottic stenosis	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0000366	Abnormality of the nose	HP:0040281	ORPHA:900
3113	HLA-DPA1	HP:0001681	Angina pectoris	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0002960	Autoimmunity	HP:0040281	ORPHA:900
3113	HLA-DPA1	HP:0002955	Granulomatosis	HP:0040281	ORPHA:900
3113	HLA-DPA1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0001733	Pancreatitis	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0001701	Pericarditis	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0000491	Keratitis	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0000488	Retinopathy	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0000421	Epistaxis	HP:0040281	ORPHA:900
3113	HLA-DPA1	HP:0000520	Proptosis	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0001824	Weight loss	HP:0040281	ORPHA:900
3113	HLA-DPA1	HP:0000505	Visual impairment	HP:0040283	ORPHA:900
3113	HLA-DPA1	HP:0000579	Nasolacrimal duct obstruction	HP:0040282	ORPHA:900
3113	HLA-DPA1	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0025179	Ground-glass opacification	HP:0040282	ORPHA:133
3115	HLA-DPB1	HP:0033557	Anti-proteinase 3 antibody positivity	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0033559	Anti-myeloperoxidase antibody positivity	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0032230	Cytoplasmic antineutrophil antibody positivity	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0100820	Glomerulopathy	HP:0040281	ORPHA:900
3115	HLA-DPB1	HP:0001287	Meningitis	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0001250	Seizure	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0033608	Pulmonary nodule	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0000099	Glomerulonephritis	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0000093	Proteinuria	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0000071	Ureteral stenosis	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0001369	Arthritis	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0000024	Prostatitis	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0025393	Reticulonodular pattern on pulmonary HRCT	HP:0040282	ORPHA:133
3115	HLA-DPB1	HP:0002637	Cerebral ischemia	HP:0040281	ORPHA:900
3115	HLA-DPB1	HP:0002633	Vasculitis	HP:0040281	ORPHA:900
3115	HLA-DPB1	HP:0000163	Abnormal oral cavity morphology	HP:0040281	ORPHA:900
3115	HLA-DPB1	HP:0025439	Pharyngitis	HP:0040282	ORPHA:133
3115	HLA-DPB1	HP:0025420	Diffuse alveolar hemorrhage	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0002795	Abnormal respiratory system physiology	HP:0040281	ORPHA:133
3115	HLA-DPB1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0003326	Myalgia	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0100532	Scleritis	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0100533	Inflammatory abnormality of the eye	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0100539	Periorbital edema	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0002094	Dyspnea	HP:0040282	ORPHA:133
3115	HLA-DPB1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:133
3115	HLA-DPB1	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0002102	Pleuritis	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0002113	Pulmonary infiltrates	HP:0040281	ORPHA:900
3115	HLA-DPB1	HP:0002105	Hemoptysis	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0002202	Pleural effusion	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:900
3115	HLA-DPB1	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0002206	Pulmonary fibrosis	HP:0040283	ORPHA:133
3115	HLA-DPB1	HP:0100721	Mediastinal lymphadenopathy	HP:0040283	ORPHA:133
3115	HLA-DPB1	HP:0100749	Chest pain	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0100758	Gangrene	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0002315	Headache	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0200034	Papule	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0200042	Skin ulcer	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0002301	Hemiplegia	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0001945	Fever	HP:0040281	ORPHA:900
3115	HLA-DPB1	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0005607	Abnormal tracheobronchial morphology	HP:0040282	ORPHA:133
3115	HLA-DPB1	HP:0012735	Cough	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0012735	Cough	HP:0040282	ORPHA:133
3115	HLA-DPB1	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0034104	Anti-neutrophil elastase antibody positivity	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0000790	Hematuria	HP:0040281	ORPHA:900
3115	HLA-DPB1	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0100326	Immunologic hypersensitivity	HP:0040281	ORPHA:133
3115	HLA-DPB1	HP:0000822	Hypertension	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:133
3115	HLA-DPB1	HP:0030877	Reduced FEV1/FVC ratio	HP:0040282	ORPHA:133
3115	HLA-DPB1	HP:0000979	Purpura	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0000988	Skin rash	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0011675	Arrhythmia	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0031392	Abnormal CD4+ T cell subset proportion	HP:0040282	ORPHA:133
3115	HLA-DPB1	HP:0002829	Arthralgia	HP:0040281	ORPHA:900
3115	HLA-DPB1	HP:0000246	Sinusitis	HP:0040281	ORPHA:900
3115	HLA-DPB1	HP:0006510	Chronic pulmonary obstruction	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0012378	Fatigue	HP:0040281	ORPHA:900
3115	HLA-DPB1	HP:0012378	Fatigue	HP:0040282	ORPHA:133
3115	HLA-DPB1	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0000388	Otitis media	HP:0040281	ORPHA:900
3115	HLA-DPB1	HP:0005214	Intestinal obstruction	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0006527	Lymphocytic interstitial pneumonia	HP:0040282	ORPHA:133
3115	HLA-DPB1	HP:0006535	Recurrent intrapulmonary hemorrhage	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0006516	Hypersensitivity pneumonitis	HP:0040281	ORPHA:133
3115	HLA-DPB1	HP:0001607	Subglottic stenosis	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0000366	Abnormality of the nose	HP:0040281	ORPHA:900
3115	HLA-DPB1	HP:0001681	Angina pectoris	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0002960	Autoimmunity	HP:0040281	ORPHA:900
3115	HLA-DPB1	HP:0002955	Granulomatosis	HP:0040281	ORPHA:900
3115	HLA-DPB1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0001733	Pancreatitis	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0001701	Pericarditis	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0000491	Keratitis	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0000488	Retinopathy	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0011121	Abnormal skin morphology	HP:0040284	ORPHA:133
3115	HLA-DPB1	HP:0000421	Epistaxis	HP:0040281	ORPHA:900
3115	HLA-DPB1	HP:0000520	Proptosis	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0001824	Weight loss	HP:0040281	ORPHA:900
3115	HLA-DPB1	HP:0001824	Weight loss	HP:0040282	ORPHA:133
3115	HLA-DPB1	HP:0000505	Visual impairment	HP:0040283	ORPHA:900
3115	HLA-DPB1	HP:0000579	Nasolacrimal duct obstruction	HP:0040282	ORPHA:900
3115	HLA-DPB1	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:900
3117	HLA-DQA1	HP:0001271	Polyneuropathy	-	OMIM:212750
3117	HLA-DQA1	HP:0001250	Seizure	-	OMIM:212750
3117	HLA-DQA1	HP:0001251	Ataxia	-	OMIM:212750
3117	HLA-DQA1	HP:0002570	Steatorrhea	-	OMIM:212750
3117	HLA-DQA1	HP:0031085	Decreased circulating prealbumin concentration	HP:0040283	ORPHA:930
3117	HLA-DQA1	HP:0002514	Cerebral calcification	20/20	OMIM:212750
3117	HLA-DQA1	HP:0008897	Postnatal growth retardation	-	OMIM:212750
3117	HLA-DQA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:212750
3117	HLA-DQA1	HP:0002665	Lymphoma	-	OMIM:212750
3117	HLA-DQA1	HP:0002608	Celiac disease	-	OMIM:212750
3117	HLA-DQA1	HP:0006297	Enamel hypoplasia	-	OMIM:212750
3117	HLA-DQA1	HP:0001426	Non-Mendelian inheritance	-	OMIM:212750
3117	HLA-DQA1	HP:0002748	Rickets	-	OMIM:212750
3117	HLA-DQA1	HP:0002720	Decreased circulating IgA concentration	-	OMIM:212750
3117	HLA-DQA1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:930
3117	HLA-DQA1	HP:0002027	Abdominal pain	-	OMIM:212750
3117	HLA-DQA1	HP:0002014	Diarrhea	-	OMIM:212750
3117	HLA-DQA1	HP:0002015	Dysphagia	HP:0040281	ORPHA:930
3117	HLA-DQA1	HP:0002013	Vomiting	-	OMIM:212750
3117	HLA-DQA1	HP:0100502	Decreased circulating vitamin B12 concentration	HP:0040283	OMIM:212750
3117	HLA-DQA1	HP:0100507	Reduced blood folate concentration	-	OMIM:212750
3117	HLA-DQA1	HP:0100512	Decreased circulating vitamin D concentration	-	OMIM:212750
3117	HLA-DQA1	HP:0008151	Prolonged prothrombin time	-	OMIM:212750
3117	HLA-DQA1	HP:0002100	Recurrent aspiration pneumonia	HP:0040283	ORPHA:930
3117	HLA-DQA1	HP:0011892	Decreased circulating vitamin K concentration	-	OMIM:212750
3117	HLA-DQA1	HP:0100749	Chest pain	HP:0040282	ORPHA:930
3117	HLA-DQA1	HP:0003645	Prolonged partial thromboplastin time	-	OMIM:212750
3117	HLA-DQA1	HP:0100651	Type I diabetes mellitus	-	OMIM:212750
3117	HLA-DQA1	HP:0100646	Thyroiditis	-	OMIM:212750
3117	HLA-DQA1	HP:0004298	Abnormality of the abdominal wall	-	OMIM:212750
3117	HLA-DQA1	HP:0001972	Macrocytic anemia	-	OMIM:212750
3117	HLA-DQA1	HP:0004322	Short stature	-	OMIM:212750
3117	HLA-DQA1	HP:0004395	Malnutrition	HP:0040283	ORPHA:930
3117	HLA-DQA1	HP:0012735	Cough	HP:0040282	ORPHA:930
3117	HLA-DQA1	HP:0000739	Anxiety	-	OMIM:212750
3117	HLA-DQA1	HP:0000716	Depression	-	OMIM:212750
3117	HLA-DQA1	HP:0000789	Infertility	-	OMIM:212750
3117	HLA-DQA1	HP:0000823	Delayed puberty	-	OMIM:212750
3117	HLA-DQA1	HP:0010280	Stomatitis	-	OMIM:212750
3117	HLA-DQA1	HP:0003270	Abdominal distention	-	OMIM:212750
3117	HLA-DQA1	HP:0030828	Wheezing	HP:0040283	ORPHA:930
3117	HLA-DQA1	HP:0003256	Abnormality of the coagulation cascade	-	OMIM:212750
3117	HLA-DQA1	HP:0000964	Eczematoid dermatitis	-	OMIM:212750
3117	HLA-DQA1	HP:0000939	Osteoporosis	-	OMIM:212750
3117	HLA-DQA1	HP:0001596	Alopecia	-	OMIM:212750
3117	HLA-DQA1	HP:0002829	Arthralgia	-	OMIM:212750
3117	HLA-DQA1	HP:0001508	Failure to thrive	-	OMIM:212750
3117	HLA-DQA1	HP:0012387	Bronchitis	HP:0040282	ORPHA:930
3117	HLA-DQA1	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:212750
3117	HLA-DQA1	HP:0002901	Hypocalcemia	-	OMIM:212750
3117	HLA-DQA1	HP:0011107	Recurrent aphthous stomatitis	-	OMIM:212750
3117	HLA-DQA1	HP:0001824	Weight loss	HP:0040282	ORPHA:930
3117	HLA-DQA1	HP:0001824	Weight loss	-	OMIM:212750
3117	HLA-DQA1	HP:0001891	Iron deficiency anemia	-	OMIM:212750
3117	HLA-DQA1	HP:0001894	Thrombocytosis	-	OMIM:212750
3119	HLA-DQB1	HP:0002494	Abnormal rapid eye movement sleep	HP:0040282	ORPHA:2073
3119	HLA-DQB1	HP:0003765	Psoriasiform dermatitis	HP:0040282	ORPHA:703
3119	HLA-DQB1	HP:0007305	CNS demyelination	-	OMIM:126200
3119	HLA-DQB1	HP:0001271	Polyneuropathy	-	OMIM:212750
3119	HLA-DQB1	HP:0001269	Hemiparesis	-	OMIM:123400
3119	HLA-DQB1	HP:0001289	Confusion	-	OMIM:123400
3119	HLA-DQB1	HP:0025235	NREM parasomnia	HP:0040282	ORPHA:2073
3119	HLA-DQB1	HP:0025233	Sleep paralysis	HP:0040283	ORPHA:2073
3119	HLA-DQB1	HP:0001279	Syncope	HP:0040283	ORPHA:2073
3119	HLA-DQB1	HP:0001250	Seizure	-	OMIM:212750
3119	HLA-DQB1	HP:0001251	Ataxia	-	OMIM:212750
3119	HLA-DQB1	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:83465
3119	HLA-DQB1	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:2073
3119	HLA-DQB1	HP:0001257	Spasticity	-	OMIM:126200
3119	HLA-DQB1	HP:0002570	Steatorrhea	-	OMIM:212750
3119	HLA-DQB1	HP:0031085	Decreased circulating prealbumin concentration	HP:0040283	ORPHA:930
3119	HLA-DQB1	HP:0002519	Hypnagogic hallucination	HP:0040282	ORPHA:2073
3119	HLA-DQB1	HP:0002514	Cerebral calcification	20/20	OMIM:212750
3119	HLA-DQB1	HP:0002524	Cataplexy	HP:0040281	ORPHA:2073
3119	HLA-DQB1	HP:0000020	Urinary incontinence	-	OMIM:126200
3119	HLA-DQB1	HP:0001350	Slurred speech	HP:0040283	ORPHA:2073
3119	HLA-DQB1	HP:0000019	Urinary hesitancy	-	OMIM:126200
3119	HLA-DQB1	HP:0000017	Nocturia	HP:0040282	ORPHA:2073
3119	HLA-DQB1	HP:0008897	Postnatal growth retardation	-	OMIM:212750
3119	HLA-DQB1	HP:0001324	Muscle weakness	-	OMIM:126200
3119	HLA-DQB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:212750
3119	HLA-DQB1	HP:0002665	Lymphoma	-	OMIM:212750
3119	HLA-DQB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:123400
3119	HLA-DQB1	HP:0001336	Myoclonus	-	OMIM:123400
3119	HLA-DQB1	HP:0001317	Abnormal cerebellum morphology	-	OMIM:123400
3119	HLA-DQB1	HP:0002608	Celiac disease	-	OMIM:212750
3119	HLA-DQB1	HP:0007686	Abnormal pupillary function	HP:0040282	ORPHA:2073
3119	HLA-DQB1	HP:0006297	Enamel hypoplasia	-	OMIM:212750
3119	HLA-DQB1	HP:0001426	Non-Mendelian inheritance	-	OMIM:212750
3119	HLA-DQB1	HP:0001426	Non-Mendelian inheritance	-	OMIM:126200
3119	HLA-DQB1	HP:0002748	Rickets	-	OMIM:212750
3119	HLA-DQB1	HP:0002719	Recurrent infections	HP:0040281	ORPHA:703
3119	HLA-DQB1	HP:0002720	Decreased circulating IgA concentration	-	OMIM:212750
3119	HLA-DQB1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:930
3119	HLA-DQB1	HP:0002019	Constipation	HP:0040282	ORPHA:2073
3119	HLA-DQB1	HP:0040307	Male sexual dysfunction	HP:0040282	ORPHA:2073
3119	HLA-DQB1	HP:0002027	Abdominal pain	-	OMIM:212750
3119	HLA-DQB1	HP:0002014	Diarrhea	-	OMIM:212750
3119	HLA-DQB1	HP:0002015	Dysphagia	HP:0040281	ORPHA:930
3119	HLA-DQB1	HP:0002013	Vomiting	-	OMIM:212750
3119	HLA-DQB1	HP:0002066	Gait ataxia	-	OMIM:123400
3119	HLA-DQB1	HP:0002076	Migraine	HP:0040283	ORPHA:2073
3119	HLA-DQB1	HP:0100502	Decreased circulating vitamin B12 concentration	HP:0040283	OMIM:212750
3119	HLA-DQB1	HP:0100507	Reduced blood folate concentration	-	OMIM:212750
3119	HLA-DQB1	HP:0100512	Decreased circulating vitamin D concentration	-	OMIM:212750
3119	HLA-DQB1	HP:0033106	Elevated circulating D-dimer concentration	HP:0040282	ORPHA:703
3119	HLA-DQB1	HP:0008151	Prolonged prothrombin time	-	OMIM:212750
3119	HLA-DQB1	HP:0002100	Recurrent aspiration pneumonia	HP:0040283	ORPHA:930
3119	HLA-DQB1	HP:0011892	Decreased circulating vitamin K concentration	-	OMIM:212750
3119	HLA-DQB1	HP:0010535	Sleep apnea	HP:0040283	ORPHA:2073
3119	HLA-DQB1	HP:0010534	Transient global amnesia	HP:0040281	ORPHA:2073
3119	HLA-DQB1	HP:0003401	Paresthesia	-	OMIM:126200
3119	HLA-DQB1	HP:0003596	Middle age onset	-	OMIM:123400
3119	HLA-DQB1	HP:0003581	Adult onset	-	OMIM:126200
3119	HLA-DQB1	HP:0100785	Insomnia	HP:0040281	ORPHA:83465
3119	HLA-DQB1	HP:0100749	Chest pain	HP:0040282	ORPHA:930
3119	HLA-DQB1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:2073
3119	HLA-DQB1	HP:0200097	Oral mucosal blisters	HP:0040283	ORPHA:703
3119	HLA-DQB1	HP:0007076	Extrapyramidal muscular rigidity	-	OMIM:123400
3119	HLA-DQB1	HP:0002381	Aphasia	-	OMIM:123400
3119	HLA-DQB1	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:83465
3119	HLA-DQB1	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:2073
3119	HLA-DQB1	HP:0001025	Urticaria	HP:0040281	ORPHA:703
3119	HLA-DQB1	HP:0002354	Memory impairment	-	OMIM:123400
3119	HLA-DQB1	HP:0003678	Rapidly progressive	-	OMIM:123400
3119	HLA-DQB1	HP:0003645	Prolonged partial thromboplastin time	-	OMIM:212750
3119	HLA-DQB1	HP:0100651	Type I diabetes mellitus	-	OMIM:212750
3119	HLA-DQB1	HP:0100646	Thyroiditis	-	OMIM:212750
3119	HLA-DQB1	HP:0010783	Erythema	HP:0040281	ORPHA:703
3119	HLA-DQB1	HP:0002311	Incoordination	-	OMIM:126200
3119	HLA-DQB1	HP:0002307	Drooling	HP:0040282	ORPHA:2073
3119	HLA-DQB1	HP:0004298	Abnormality of the abdominal wall	-	OMIM:212750
3119	HLA-DQB1	HP:4000020	Anti-BP180 antibody positivity	HP:0040282	ORPHA:703
3119	HLA-DQB1	HP:4000019	Anti-BP230 antibody positivity	HP:0040282	ORPHA:703
3119	HLA-DQB1	HP:0006896	Hypnopompic hallucination	HP:0040282	ORPHA:2073
3119	HLA-DQB1	HP:0000651	Diplopia	-	OMIM:126200
3119	HLA-DQB1	HP:0001972	Macrocytic anemia	-	OMIM:212750
3119	HLA-DQB1	HP:0000605	Supranuclear gaze palsy	-	OMIM:123400
3119	HLA-DQB1	HP:0004322	Short stature	-	OMIM:212750
3119	HLA-DQB1	HP:0004395	Malnutrition	HP:0040283	ORPHA:930
3119	HLA-DQB1	HP:0000751	Personality changes	-	OMIM:123400
3119	HLA-DQB1	HP:0012735	Cough	HP:0040282	ORPHA:930
3119	HLA-DQB1	HP:0012733	Macule	HP:0040281	ORPHA:703
3119	HLA-DQB1	HP:0000738	Hallucinations	HP:0040281	ORPHA:83465
3119	HLA-DQB1	HP:0000738	Hallucinations	HP:0040281	ORPHA:2073
3119	HLA-DQB1	HP:0000738	Hallucinations	-	OMIM:123400
3119	HLA-DQB1	HP:0000737	Irritability	-	OMIM:123400
3119	HLA-DQB1	HP:0000739	Anxiety	-	OMIM:212750
3119	HLA-DQB1	HP:0000739	Anxiety	-	OMIM:123400
3119	HLA-DQB1	HP:0000739	Anxiety	HP:0040282	ORPHA:2073
3119	HLA-DQB1	HP:0000746	Delusion	-	OMIM:123400
3119	HLA-DQB1	HP:0000741	Apathy	-	OMIM:123400
3119	HLA-DQB1	HP:0000716	Depression	-	OMIM:212750
3119	HLA-DQB1	HP:0000716	Depression	-	OMIM:123400
3119	HLA-DQB1	HP:0000716	Depression	HP:0040283	ORPHA:2073
3119	HLA-DQB1	HP:0000716	Depression	-	OMIM:126200
3119	HLA-DQB1	HP:0000712	Emotional lability	-	OMIM:126200
3119	HLA-DQB1	HP:0000711	Restlessness	HP:0040283	ORPHA:2073
3119	HLA-DQB1	HP:0000726	Dementia	-	OMIM:123400
3119	HLA-DQB1	HP:0000709	Psychosis	HP:0040284	ORPHA:2073
3119	HLA-DQB1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:83465
3119	HLA-DQB1	HP:0000789	Infertility	-	OMIM:212750
3119	HLA-DQB1	HP:0000819	Diabetes mellitus	HP:0040281	ORPHA:703
3119	HLA-DQB1	HP:0000826	Precocious puberty	HP:0040283	ORPHA:2073
3119	HLA-DQB1	HP:0000822	Hypertension	HP:0040282	ORPHA:2073
3119	HLA-DQB1	HP:0000823	Delayed puberty	-	OMIM:212750
3119	HLA-DQB1	HP:0010280	Stomatitis	-	OMIM:212750
3119	HLA-DQB1	HP:0003270	Abdominal distention	-	OMIM:212750
3119	HLA-DQB1	HP:0030828	Wheezing	HP:0040283	ORPHA:930
3119	HLA-DQB1	HP:0003256	Abnormality of the coagulation cascade	-	OMIM:212750
3119	HLA-DQB1	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:2073
3119	HLA-DQB1	HP:0000989	Pruritus	HP:0040282	ORPHA:703
3119	HLA-DQB1	HP:0000964	Eczematoid dermatitis	HP:0040281	ORPHA:703
3119	HLA-DQB1	HP:0000964	Eczematoid dermatitis	-	OMIM:212750
3119	HLA-DQB1	HP:0000939	Osteoporosis	-	OMIM:212750
3119	HLA-DQB1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:703
3119	HLA-DQB1	HP:0001596	Alopecia	-	OMIM:212750
3119	HLA-DQB1	HP:0002829	Arthralgia	-	OMIM:212750
3119	HLA-DQB1	HP:0030014	Female sexual dysfunction	HP:0040282	ORPHA:2073
3119	HLA-DQB1	HP:0001508	Failure to thrive	-	OMIM:212750
3119	HLA-DQB1	HP:0001513	Obesity	HP:0040283	ORPHA:2073
3119	HLA-DQB1	HP:0012387	Bronchitis	HP:0040282	ORPHA:930
3119	HLA-DQB1	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:212750
3119	HLA-DQB1	HP:0002922	Increased CSF protein concentration	HP:0040283	OMIM:123400
3119	HLA-DQB1	HP:0002901	Hypocalcemia	-	OMIM:212750
3119	HLA-DQB1	HP:0002960	Autoimmunity	HP:0040281	ORPHA:703
3119	HLA-DQB1	HP:0005327	Loss of facial expression	-	OMIM:123400
3119	HLA-DQB1	HP:0012452	Restless legs	HP:0040282	ORPHA:2073
3119	HLA-DQB1	HP:0011107	Recurrent aphthous stomatitis	-	OMIM:212750
3119	HLA-DQB1	HP:0001824	Weight loss	HP:0040281	ORPHA:703
3119	HLA-DQB1	HP:0001824	Weight loss	HP:0040282	ORPHA:930
3119	HLA-DQB1	HP:0001824	Weight loss	-	OMIM:212750
3119	HLA-DQB1	HP:0000505	Visual impairment	-	OMIM:123400
3119	HLA-DQB1	HP:0001891	Iron deficiency anemia	-	OMIM:212750
3119	HLA-DQB1	HP:0001894	Thrombocytosis	-	OMIM:212750
3122	HLA-DRA	HP:0007468	Perifollicular hyperkeratosis	HP:0040281	ORPHA:505
3122	HLA-DRA	HP:0002215	Sparse axillary hair	HP:0040281	ORPHA:505
3122	HLA-DRA	HP:0002225	Sparse pubic hair	HP:0040281	ORPHA:505
3122	HLA-DRA	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:505
3122	HLA-DRA	HP:0100725	Lichenification	HP:0040282	ORPHA:505
3122	HLA-DRA	HP:0000989	Pruritus	HP:0040282	ORPHA:505
3122	HLA-DRA	HP:0001596	Alopecia	HP:0040281	ORPHA:505
3123	HLA-DRB1	HP:0002494	Abnormal rapid eye movement sleep	HP:0040282	ORPHA:2073
3123	HLA-DRB1	HP:6000502	Elevated circulating calprotectin concentration	HP:0040282	ORPHA:397
3123	HLA-DRB1	HP:0100958	Narrow foramen obturatorium	HP:0040281	ORPHA:220393
3123	HLA-DRB1	HP:0100958	Narrow foramen obturatorium	HP:0040281	ORPHA:220402
3123	HLA-DRB1	HP:0001138	Optic neuropathy	HP:0040283	OMIM:181000
3123	HLA-DRB1	HP:0003765	Psoriasiform dermatitis	HP:0040282	ORPHA:703
3123	HLA-DRB1	HP:0001123	Visual field defect	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0007305	CNS demyelination	-	OMIM:126200
3123	HLA-DRB1	HP:0009926	Epiphora	-	OMIM:181000
3123	HLA-DRB1	HP:0009926	Epiphora	HP:0040283	ORPHA:3437
3123	HLA-DRB1	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0010876	Abnormal circulating protein concentration	HP:0040282	ORPHA:747
3123	HLA-DRB1	HP:0003745	Sporadic	-	OMIM:181000
3123	HLA-DRB1	HP:0033505	Livedo reticularis	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0003701	Proximal muscle weakness	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0100809	Scalp tenderness	HP:0040283	ORPHA:3437
3123	HLA-DRB1	HP:0100809	Scalp tenderness	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0100828	Increased total T cell count	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0001287	Meningitis	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0001287	Meningitis	HP:0040283	ORPHA:545
3123	HLA-DRB1	HP:0025235	NREM parasomnia	HP:0040282	ORPHA:2073
3123	HLA-DRB1	HP:0025233	Sleep paralysis	HP:0040283	ORPHA:2073
3123	HLA-DRB1	HP:0001279	Syncope	HP:0040283	ORPHA:2073
3123	HLA-DRB1	HP:0002585	Abnormal peritoneum morphology	HP:0040283	ORPHA:545
3123	HLA-DRB1	HP:0001250	Seizure	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0001251	Ataxia	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0001260	Dysarthria	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:83465
3123	HLA-DRB1	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:2073
3123	HLA-DRB1	HP:0001257	Spasticity	-	OMIM:126200
3123	HLA-DRB1	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0001217	Clubbing	HP:0040282	ORPHA:747
3123	HLA-DRB1	HP:0001217	Clubbing	-	OMIM:181000
3123	HLA-DRB1	HP:0002519	Hypnagogic hallucination	HP:0040282	ORPHA:2073
3123	HLA-DRB1	HP:0002524	Cataplexy	HP:0040281	ORPHA:2073
3123	HLA-DRB1	HP:6000710	Dalen Fuchs nodules	HP:0040283	ORPHA:3437
3123	HLA-DRB1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:220393
3123	HLA-DRB1	HP:0000099	Glomerulonephritis	HP:0040283	ORPHA:85414
3123	HLA-DRB1	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
3123	HLA-DRB1	HP:0012062	Bone cyst	-	OMIM:181000
3123	HLA-DRB1	HP:0012062	Bone cyst	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0001399	Hepatic failure	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0001399	Hepatic failure	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0025341	Corneal keratic precipitates	HP:0040283	ORPHA:3437
3123	HLA-DRB1	HP:0001371	Flexion contracture	HP:0040282	ORPHA:220393
3123	HLA-DRB1	HP:0001369	Arthritis	HP:0040282	ORPHA:397
3123	HLA-DRB1	HP:0001369	Arthritis	HP:0040281	ORPHA:85414
3123	HLA-DRB1	HP:0001369	Arthritis	HP:0040282	ORPHA:536
3123	HLA-DRB1	HP:0001369	Arthritis	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0001369	Arthritis	-	OMIM:181000
3123	HLA-DRB1	HP:0001369	Arthritis	HP:0040282	ORPHA:220393
3123	HLA-DRB1	HP:0001386	Joint swelling	HP:0040281	ORPHA:85414
3123	HLA-DRB1	HP:0001386	Joint swelling	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0001387	Joint stiffness	HP:0040281	ORPHA:397
3123	HLA-DRB1	HP:0000020	Urinary incontinence	-	OMIM:126200
3123	HLA-DRB1	HP:0001350	Slurred speech	HP:0040283	ORPHA:2073
3123	HLA-DRB1	HP:0033823	Mediastinal mass	HP:0040284	ORPHA:545
3123	HLA-DRB1	HP:0000019	Urinary hesitancy	-	OMIM:126200
3123	HLA-DRB1	HP:0000017	Nocturia	HP:0040282	ORPHA:2073
3123	HLA-DRB1	HP:0033834	Malaise	HP:0040282	ORPHA:397
3123	HLA-DRB1	HP:0033834	Malaise	HP:0040281	ORPHA:536
3123	HLA-DRB1	HP:0025391	Crazy paving pattern	HP:0040283	ORPHA:747
3123	HLA-DRB1	HP:0012085	Pyuria	HP:0040282	ORPHA:536
3123	HLA-DRB1	HP:0031179	Nuchal rigidity	HP:0040282	ORPHA:3437
3123	HLA-DRB1	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
3123	HLA-DRB1	HP:0025300	Malar rash	HP:0040282	ORPHA:536
3123	HLA-DRB1	HP:0001324	Muscle weakness	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:220393
3123	HLA-DRB1	HP:0001324	Muscle weakness	-	OMIM:126200
3123	HLA-DRB1	HP:0002665	Lymphoma	HP:0040281	ORPHA:545
3123	HLA-DRB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:181000
3123	HLA-DRB1	HP:0002637	Cerebral ischemia	HP:0040281	ORPHA:397
3123	HLA-DRB1	HP:0002633	Vasculitis	HP:0040281	ORPHA:397
3123	HLA-DRB1	HP:0002647	Aortic dissection	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:747
3123	HLA-DRB1	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:545
3123	HLA-DRB1	HP:0002797	Osteolysis	HP:0040282	ORPHA:220393
3123	HLA-DRB1	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0012122	Anterior uveitis	HP:0040283	ORPHA:85414
3123	HLA-DRB1	HP:0007686	Abnormal pupillary function	HP:0040282	ORPHA:2073
3123	HLA-DRB1	HP:0008940	Generalized lymphadenopathy	-	OMIM:181000
3123	HLA-DRB1	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0002781	Upper airway obstruction	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0001426	Non-Mendelian inheritance	-	OMIM:126200
3123	HLA-DRB1	HP:0001410	Decreased liver function	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0001409	Portal hypertension	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0002733	Abnormal lymph node morphology	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0031246	Nonproductive cough	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0002719	Recurrent infections	HP:0040281	ORPHA:703
3123	HLA-DRB1	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:85414
3123	HLA-DRB1	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:545
3123	HLA-DRB1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0002024	Malabsorption	HP:0040282	ORPHA:220393
3123	HLA-DRB1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220402
3123	HLA-DRB1	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:220393
3123	HLA-DRB1	HP:0002018	Nausea	HP:0040283	ORPHA:3437
3123	HLA-DRB1	HP:0002019	Constipation	HP:0040282	ORPHA:2073
3123	HLA-DRB1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:220402
3123	HLA-DRB1	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:220393
3123	HLA-DRB1	HP:0002037	Inflammation of the large intestine	-	OMIM:181000
3123	HLA-DRB1	HP:0040307	Male sexual dysfunction	HP:0040282	ORPHA:2073
3123	HLA-DRB1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:85414
3123	HLA-DRB1	HP:0003326	Myalgia	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0002015	Dysphagia	HP:0040282	ORPHA:220402
3123	HLA-DRB1	HP:0002015	Dysphagia	HP:0040282	ORPHA:220393
3123	HLA-DRB1	HP:0011801	Enlargement of parotid gland	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0002087	Abnormality of the upper respiratory tract	HP:0040282	ORPHA:747
3123	HLA-DRB1	HP:0002088	Abnormal lung morphology	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:3437
3123	HLA-DRB1	HP:0002097	Emphysema	-	OMIM:181000
3123	HLA-DRB1	HP:0002097	Emphysema	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0002094	Dyspnea	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0002094	Dyspnea	HP:0040282	ORPHA:747
3123	HLA-DRB1	HP:0002094	Dyspnea	-	OMIM:181000
3123	HLA-DRB1	HP:0002094	Dyspnea	HP:0040281	ORPHA:220393
3123	HLA-DRB1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:220402
3123	HLA-DRB1	HP:0002092	Pulmonary arterial hypertension	-	OMIM:181000
3123	HLA-DRB1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:220393
3123	HLA-DRB1	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:747
3123	HLA-DRB1	HP:0002091	Restrictive ventilatory defect	-	OMIM:181000
3123	HLA-DRB1	HP:0002076	Migraine	HP:0040283	ORPHA:2073
3123	HLA-DRB1	HP:0002072	Chorea	HP:0040284	ORPHA:536
3123	HLA-DRB1	HP:0030953	Conjunctival hyperemia	HP:0040282	ORPHA:3437
3123	HLA-DRB1	HP:0002045	Hypothermia	HP:0040284	ORPHA:797
3123	HLA-DRB1	HP:0002039	Anorexia	HP:0040281	ORPHA:397
3123	HLA-DRB1	HP:0002039	Anorexia	HP:0040281	ORPHA:536
3123	HLA-DRB1	HP:0002039	Anorexia	-	OMIM:181000
3123	HLA-DRB1	HP:0100520	Oliguria	HP:0040281	ORPHA:220393
3123	HLA-DRB1	HP:0033106	Elevated circulating D-dimer concentration	HP:0040282	ORPHA:703
3123	HLA-DRB1	HP:0033123	Elevated circulating osteopontin level	HP:0040282	ORPHA:397
3123	HLA-DRB1	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:220402
3123	HLA-DRB1	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:220393
3123	HLA-DRB1	HP:0100579	Mucosal telangiectasiae	HP:0040282	ORPHA:220402
3123	HLA-DRB1	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0009473	Joint contracture of the hand	HP:0040283	ORPHA:220402
3123	HLA-DRB1	HP:0002150	Hypercalciuria	-	OMIM:181000
3123	HLA-DRB1	HP:0002150	Hypercalciuria	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
3123	HLA-DRB1	HP:0002103	Abnormal pleura morphology	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0002103	Abnormal pleura morphology	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0004756	Ventricular tachycardia	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0002113	Pulmonary infiltrates	-	OMIM:181000
3123	HLA-DRB1	HP:0002113	Pulmonary infiltrates	HP:0040281	ORPHA:220393
3123	HLA-DRB1	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0002110	Bronchiectasis	HP:0040283	OMIM:181000
3123	HLA-DRB1	HP:0002107	Pneumothorax	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0002105	Hemoptysis	HP:0040284	ORPHA:747
3123	HLA-DRB1	HP:0002105	Hemoptysis	-	OMIM:181000
3123	HLA-DRB1	HP:0002105	Hemoptysis	HP:0040284	ORPHA:797
3123	HLA-DRB1	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
3123	HLA-DRB1	HP:0011899	Hyperfibrinogenemia	HP:0040282	ORPHA:397
3123	HLA-DRB1	HP:0010535	Sleep apnea	HP:0040283	ORPHA:2073
3123	HLA-DRB1	HP:0010534	Transient global amnesia	HP:0040281	ORPHA:2073
3123	HLA-DRB1	HP:0011850	Parotitis	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0011840	Abnormality of T cell physiology	-	OMIM:181000
3123	HLA-DRB1	HP:0003401	Paresthesia	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0003401	Paresthesia	-	OMIM:126200
3123	HLA-DRB1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:85414
3123	HLA-DRB1	HP:0002240	Hepatomegaly	HP:0040283	OMIM:181000
3123	HLA-DRB1	HP:0003581	Adult onset	-	OMIM:181000
3123	HLA-DRB1	HP:0003581	Adult onset	-	OMIM:126200
3123	HLA-DRB1	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:3437
3123	HLA-DRB1	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:397
3123	HLA-DRB1	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040281	ORPHA:85414
3123	HLA-DRB1	HP:0003565	Elevated erythrocyte sedimentation rate	-	OMIM:181000
3123	HLA-DRB1	HP:0004890	Elevated pulmonary artery pressure	HP:0040283	ORPHA:85414
3123	HLA-DRB1	HP:0002202	Pleural effusion	HP:0040283	ORPHA:85414
3123	HLA-DRB1	HP:0002202	Pleural effusion	HP:0040283	ORPHA:545
3123	HLA-DRB1	HP:0002202	Pleural effusion	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0002202	Pleural effusion	HP:0040284	OMIM:181000
3123	HLA-DRB1	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:3437
3123	HLA-DRB1	HP:0002206	Pulmonary fibrosis	HP:0040283	ORPHA:220402
3123	HLA-DRB1	HP:0002206	Pulmonary fibrosis	-	OMIM:181000
3123	HLA-DRB1	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:220393
3123	HLA-DRB1	HP:0002206	Pulmonary fibrosis	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0100776	Recurrent pharyngitis	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0010702	Increased circulating immunoglobulin concentration	-	OMIM:181000
3123	HLA-DRB1	HP:0100785	Insomnia	HP:0040281	ORPHA:83465
3123	HLA-DRB1	HP:0100721	Mediastinal lymphadenopathy	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0100721	Mediastinal lymphadenopathy	-	OMIM:181000
3123	HLA-DRB1	HP:0100721	Mediastinal lymphadenopathy	HP:0040281	ORPHA:545
3123	HLA-DRB1	HP:0100735	Hypertensive crisis	HP:0040283	ORPHA:220393
3123	HLA-DRB1	HP:0100749	Chest pain	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0100749	Chest pain	HP:0040284	ORPHA:747
3123	HLA-DRB1	HP:0100749	Chest pain	-	OMIM:181000
3123	HLA-DRB1	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
3123	HLA-DRB1	HP:0002290	Poliosis	HP:0040281	ORPHA:3437
3123	HLA-DRB1	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0100758	Gangrene	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0008366	Foot joint contracture	HP:0040283	ORPHA:220402
3123	HLA-DRB1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:2073
3123	HLA-DRB1	HP:0200097	Oral mucosal blisters	HP:0040283	ORPHA:703
3123	HLA-DRB1	HP:0010628	Facial palsy	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:220402
3123	HLA-DRB1	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:3437
3123	HLA-DRB1	HP:0002381	Aphasia	HP:0040283	ORPHA:3437
3123	HLA-DRB1	HP:0002367	Visual hallucination	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:83465
3123	HLA-DRB1	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:2073
3123	HLA-DRB1	HP:0001045	Vitiligo	HP:0040281	ORPHA:3437
3123	HLA-DRB1	HP:0001010	Hypopigmentation of the skin	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0001004	Lymphedema	HP:0040283	ORPHA:545
3123	HLA-DRB1	HP:0001025	Urticaria	HP:0040281	ORPHA:703
3123	HLA-DRB1	HP:0003651	Foam cells	HP:0040282	ORPHA:747
3123	HLA-DRB1	HP:0002321	Vertigo	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0002321	Vertigo	HP:0040283	ORPHA:3437
3123	HLA-DRB1	HP:0002315	Headache	HP:0040281	ORPHA:397
3123	HLA-DRB1	HP:0002315	Headache	HP:0040281	ORPHA:3437
3123	HLA-DRB1	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:220402
3123	HLA-DRB1	HP:0200036	Skin nodule	HP:0040283	ORPHA:545
3123	HLA-DRB1	HP:0200036	Skin nodule	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0200035	Skin plaque	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0001094	Iridocyclitis	HP:0040282	ORPHA:3437
3123	HLA-DRB1	HP:0001094	Iridocyclitis	-	OMIM:181000
3123	HLA-DRB1	HP:0200042	Skin ulcer	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0200042	Skin ulcer	HP:0040282	ORPHA:220402
3123	HLA-DRB1	HP:0200042	Skin ulcer	HP:0040282	ORPHA:220393
3123	HLA-DRB1	HP:0020120	Retinal nerve fiber edema	HP:0040282	ORPHA:3437
3123	HLA-DRB1	HP:0010783	Erythema	HP:0040281	ORPHA:703
3123	HLA-DRB1	HP:0100699	Scarring	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0002311	Incoordination	-	OMIM:126200
3123	HLA-DRB1	HP:0002307	Drooling	HP:0040282	ORPHA:2073
3123	HLA-DRB1	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:85414
3123	HLA-DRB1	HP:4000020	Anti-BP180 antibody positivity	HP:0040282	ORPHA:703
3123	HLA-DRB1	HP:4000019	Anti-BP230 antibody positivity	HP:0040282	ORPHA:703
3123	HLA-DRB1	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
3123	HLA-DRB1	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
3123	HLA-DRB1	HP:0006896	Hypnopompic hallucination	HP:0040282	ORPHA:2073
3123	HLA-DRB1	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0001970	Tubulointerstitial nephritis	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0000639	Nystagmus	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0000651	Diplopia	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0000651	Diplopia	-	OMIM:126200
3123	HLA-DRB1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0000618	Blindness	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0000613	Photophobia	HP:0040283	ORPHA:3437
3123	HLA-DRB1	HP:0000613	Photophobia	-	OMIM:181000
3123	HLA-DRB1	HP:0001945	Fever	HP:0040281	ORPHA:397
3123	HLA-DRB1	HP:0001945	Fever	HP:0040281	ORPHA:545
3123	HLA-DRB1	HP:0001945	Fever	HP:0040281	ORPHA:536
3123	HLA-DRB1	HP:0001945	Fever	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0001945	Fever	HP:0040284	ORPHA:747
3123	HLA-DRB1	HP:0001945	Fever	HP:0040281	ORPHA:85414
3123	HLA-DRB1	HP:0001945	Fever	HP:0040283	ORPHA:3437
3123	HLA-DRB1	HP:0001945	Fever	-	OMIM:181000
3123	HLA-DRB1	HP:0000620	Dacryocystitis	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0000622	Blurred vision	-	OMIM:181000
3123	HLA-DRB1	HP:0000622	Blurred vision	HP:0040282	ORPHA:3437
3123	HLA-DRB1	HP:0001903	Anemia	HP:0040282	ORPHA:397
3123	HLA-DRB1	HP:0001903	Anemia	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0000670	Carious teeth	HP:0040282	ORPHA:220393
3123	HLA-DRB1	HP:0004322	Short stature	HP:0040282	ORPHA:3437
3123	HLA-DRB1	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:545
3123	HLA-DRB1	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0003011	Abnormality of the musculature	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0005681	Juvenile rheumatoid arthritis	HP:0040281	ORPHA:85414
3123	HLA-DRB1	HP:0012735	Cough	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0012735	Cough	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0012735	Cough	HP:0040283	ORPHA:747
3123	HLA-DRB1	HP:0012735	Cough	-	OMIM:181000
3123	HLA-DRB1	HP:0012733	Macule	HP:0040281	ORPHA:703
3123	HLA-DRB1	HP:0012722	Heart block	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0000738	Hallucinations	HP:0040281	ORPHA:83465
3123	HLA-DRB1	HP:0000738	Hallucinations	HP:0040281	ORPHA:2073
3123	HLA-DRB1	HP:0000739	Anxiety	HP:0040282	ORPHA:2073
3123	HLA-DRB1	HP:0000716	Depression	HP:0040282	ORPHA:397
3123	HLA-DRB1	HP:0000716	Depression	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0000716	Depression	HP:0040283	ORPHA:2073
3123	HLA-DRB1	HP:0000716	Depression	-	OMIM:126200
3123	HLA-DRB1	HP:0000712	Emotional lability	-	OMIM:126200
3123	HLA-DRB1	HP:0000711	Restlessness	HP:0040283	ORPHA:2073
3123	HLA-DRB1	HP:0000709	Psychosis	HP:0040284	ORPHA:2073
3123	HLA-DRB1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:83465
3123	HLA-DRB1	HP:0011484	Posterior synechiae of the anterior chamber	HP:0040283	ORPHA:3437
3123	HLA-DRB1	HP:0000790	Hematuria	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0000790	Hematuria	HP:0040282	ORPHA:536
3123	HLA-DRB1	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:397
3123	HLA-DRB1	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
3123	HLA-DRB1	HP:0030783	Increased circulating interleukin 6 concentration	HP:0040282	ORPHA:397
3123	HLA-DRB1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0000836	Hyperthyroidism	HP:0040284	ORPHA:797
3123	HLA-DRB1	HP:0000834	Abnormality of the adrenal glands	HP:0040284	ORPHA:797
3123	HLA-DRB1	HP:0000819	Diabetes mellitus	HP:0040281	ORPHA:703
3123	HLA-DRB1	HP:0000826	Precocious puberty	HP:0040283	ORPHA:2073
3123	HLA-DRB1	HP:0000822	Hypertension	HP:0040282	ORPHA:536
3123	HLA-DRB1	HP:0000822	Hypertension	HP:0040282	ORPHA:2073
3123	HLA-DRB1	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:797
3123	HLA-DRB1	HP:0040030	Chorioretinal hypopigmentation	HP:0040282	ORPHA:3437
3123	HLA-DRB1	HP:0010286	Abnormal salivary gland morphology	-	OMIM:181000
3123	HLA-DRB1	HP:0030872	Abnormal cardiac ventricular function	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
3123	HLA-DRB1	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
3123	HLA-DRB1	HP:0045051	Decreased DLCO	HP:0040282	ORPHA:747
3123	HLA-DRB1	HP:0045073	Serositis	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0003281	Increased circulating ferritin concentration	HP:0040283	ORPHA:85414
3123	HLA-DRB1	HP:0030830	Crackles	HP:0040283	ORPHA:747
3123	HLA-DRB1	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0010310	Chylothorax	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:2073
3123	HLA-DRB1	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0000989	Pruritus	HP:0040282	ORPHA:703
3123	HLA-DRB1	HP:0000988	Skin rash	HP:0040281	ORPHA:85414
3123	HLA-DRB1	HP:0000953	Hyperpigmentation of the skin	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:220402
3123	HLA-DRB1	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:220393
3123	HLA-DRB1	HP:0000964	Eczematoid dermatitis	HP:0040281	ORPHA:703
3123	HLA-DRB1	HP:0000961	Cyanosis	HP:0040282	ORPHA:747
3123	HLA-DRB1	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0000938	Osteopenia	HP:0040283	ORPHA:85414
3123	HLA-DRB1	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:703
3123	HLA-DRB1	HP:0040186	Maculopapular exanthema	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0011675	Arrhythmia	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0011675	Arrhythmia	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0001596	Alopecia	HP:0040282	ORPHA:397
3123	HLA-DRB1	HP:0001596	Alopecia	HP:0040283	ORPHA:3437
3123	HLA-DRB1	HP:0001596	Alopecia	HP:0040282	ORPHA:536
3123	HLA-DRB1	HP:0001596	Alopecia	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0012243	Abnormal reproductive system morphology	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:3437
3123	HLA-DRB1	HP:0007734	Enlarged lacrimal glands	-	OMIM:181000
3123	HLA-DRB1	HP:0007734	Enlarged lacrimal glands	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0030057	Autoimmune antibody positivity	HP:0040282	ORPHA:747
3123	HLA-DRB1	HP:0002829	Arthralgia	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0002829	Arthralgia	HP:0040281	ORPHA:85414
3123	HLA-DRB1	HP:0002829	Arthralgia	HP:0040282	ORPHA:220393
3123	HLA-DRB1	HP:0012229	CSF pleocytosis	HP:0040281	ORPHA:3437
3123	HLA-DRB1	HP:0012219	Erythema nodosum	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0000217	Xerostomia	HP:0040282	ORPHA:220393
3123	HLA-DRB1	HP:0030016	Dyspareunia	HP:0040282	ORPHA:220393
3123	HLA-DRB1	HP:0030014	Female sexual dysfunction	HP:0040282	ORPHA:2073
3123	HLA-DRB1	HP:0001541	Ascites	HP:0040283	ORPHA:545
3123	HLA-DRB1	HP:0000206	Glossitis	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0001510	Growth delay	HP:0040283	ORPHA:85414
3123	HLA-DRB1	HP:0001513	Obesity	HP:0040283	ORPHA:2073
3123	HLA-DRB1	HP:0012378	Fatigue	HP:0040281	ORPHA:397
3123	HLA-DRB1	HP:0012378	Fatigue	HP:0040282	ORPHA:545
3123	HLA-DRB1	HP:0012378	Fatigue	HP:0040281	ORPHA:536
3123	HLA-DRB1	HP:0012378	Fatigue	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0012378	Fatigue	HP:0040284	ORPHA:747
3123	HLA-DRB1	HP:0005244	Gastrointestinal infarctions	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0005216	Impaired mastication	HP:0040281	ORPHA:397
3123	HLA-DRB1	HP:0006530	Abnormal pulmonary interstitial morphology	-	OMIM:181000
3123	HLA-DRB1	HP:0006517	Intraalveolar phospholipid accumulation	HP:0040281	ORPHA:747
3123	HLA-DRB1	HP:0002922	Increased CSF protein concentration	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0002921	Abnormal cerebrospinal fluid morphology	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0000360	Tinnitus	HP:0040282	ORPHA:3437
3123	HLA-DRB1	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0001698	Pericardial effusion	HP:0040284	OMIM:181000
3123	HLA-DRB1	HP:0030142	Abnormal bowel sounds	HP:0040283	ORPHA:220393
3123	HLA-DRB1	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0030146	Abnormal liver parenchyma morphology	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0002960	Autoimmunity	HP:0040281	ORPHA:85414
3123	HLA-DRB1	HP:0002960	Autoimmunity	HP:0040281	ORPHA:703
3123	HLA-DRB1	HP:0002960	Autoimmunity	HP:0040281	ORPHA:220402
3123	HLA-DRB1	HP:0002960	Autoimmunity	HP:0040281	ORPHA:220393
3123	HLA-DRB1	HP:0030164	Jaw claudication	HP:0040282	ORPHA:397
3123	HLA-DRB1	HP:0030166	Night sweats	HP:0040282	ORPHA:545
3123	HLA-DRB1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:220393
3123	HLA-DRB1	HP:0007906	Ocular hypertension	HP:0040282	ORPHA:3437
3123	HLA-DRB1	HP:0032976	Elevated bronchoalveolar lavage fluid lymphocyte proportion	-	OMIM:181000
3123	HLA-DRB1	HP:0000499	Abnormal eyelash morphology	HP:0040281	ORPHA:3437
3123	HLA-DRB1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:3437
3123	HLA-DRB1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0001701	Pericarditis	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0001701	Pericarditis	HP:0040283	ORPHA:85414
3123	HLA-DRB1	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
3123	HLA-DRB1	HP:0012452	Restless legs	HP:0040282	ORPHA:2073
3123	HLA-DRB1	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0012424	Chorioretinitis	-	OMIM:181000
3123	HLA-DRB1	HP:0000433	Abnormal nasal mucosa morphology	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0012418	Hypoxemia	HP:0040282	ORPHA:747
3123	HLA-DRB1	HP:0012418	Hypoxemia	-	OMIM:181000
3123	HLA-DRB1	HP:0001744	Splenomegaly	HP:0040282	ORPHA:545
3123	HLA-DRB1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:85414
3123	HLA-DRB1	HP:0001744	Splenomegaly	HP:0040283	OMIM:181000
3123	HLA-DRB1	HP:0000421	Epistaxis	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0005413	Increased alpha-globulin	HP:0040282	ORPHA:397
3123	HLA-DRB1	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
3123	HLA-DRB1	HP:0000518	Cataract	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0000518	Cataract	HP:0040282	ORPHA:3437
3123	HLA-DRB1	HP:0001824	Weight loss	HP:0040281	ORPHA:397
3123	HLA-DRB1	HP:0001824	Weight loss	HP:0040281	ORPHA:703
3123	HLA-DRB1	HP:0001824	Weight loss	HP:0040281	ORPHA:545
3123	HLA-DRB1	HP:0001824	Weight loss	HP:0040281	ORPHA:536
3123	HLA-DRB1	HP:0001824	Weight loss	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0001824	Weight loss	HP:0040284	ORPHA:747
3123	HLA-DRB1	HP:0001824	Weight loss	-	OMIM:181000
3123	HLA-DRB1	HP:0000508	Ptosis	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0000502	Abnormal conjunctiva morphology	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0000505	Visual impairment	HP:0040282	ORPHA:397
3123	HLA-DRB1	HP:0000505	Visual impairment	HP:0040282	ORPHA:3437
3123	HLA-DRB1	HP:0000501	Glaucoma	HP:0040283	ORPHA:3437
3123	HLA-DRB1	HP:0000501	Glaucoma	HP:0040283	ORPHA:797
3123	HLA-DRB1	HP:0000501	Glaucoma	-	OMIM:181000
3123	HLA-DRB1	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:397
3123	HLA-DRB1	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040281	ORPHA:397
3123	HLA-DRB1	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040281	ORPHA:85414
3123	HLA-DRB1	HP:0000554	Uveitis	-	OMIM:181000
3123	HLA-DRB1	HP:0000554	Uveitis	HP:0040282	ORPHA:3437
3123	HLA-DRB1	HP:0000554	Uveitis	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0000572	Visual loss	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0001872	Abnormality of thrombocytes	HP:0040283	ORPHA:397
3123	HLA-DRB1	HP:0000541	Retinal detachment	HP:0040282	ORPHA:3437
3123	HLA-DRB1	HP:0000534	Abnormal eyebrow morphology	HP:0040281	ORPHA:3437
3123	HLA-DRB1	HP:0001880	Increased total eosinophil count	HP:0040284	ORPHA:797
3123	HLA-DRB1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
3123	HLA-DRB1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0001878	Hemolytic anemia	HP:0040284	ORPHA:797
3123	HLA-DRB1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
3123	HLA-DRB1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:797
3123	HLA-DRB1	HP:0001876	Pancytopenia	-	OMIM:181000
3135	HLA-G	HP:0000006	Autosomal dominant inheritance	-	OMIM:600807
3135	HLA-G	HP:0001426	Non-Mendelian inheritance	-	OMIM:600807
3135	HLA-G	HP:0002099	Asthma	-	OMIM:600807
3135	HLA-G	HP:4000007	Bronchoconstriction	-	OMIM:600807
3135	HLA-G	HP:0032933	Airway hyperresponsiveness	-	OMIM:600807
3141	HLCS	HP:0033596	Elevated urinary 3-methylcrotonylglycine level	1/1	OMIM:253270
3141	HLCS	HP:0001290	Generalized hypotonia	-	OMIM:253270
3141	HLCS	HP:0001276	Hypertonia	-	OMIM:253270
3141	HLCS	HP:0001254	Lethargy	-	OMIM:253270
3141	HLCS	HP:0001254	Lethargy	HP:0040283	ORPHA:79242
3141	HLCS	HP:0001250	Seizure	-	OMIM:253270
3141	HLCS	HP:0001250	Seizure	HP:0040281	ORPHA:79242
3141	HLCS	HP:0001252	Hypotonia	-	OMIM:253270
3141	HLCS	HP:0001252	Hypotonia	HP:0040281	ORPHA:79242
3141	HLCS	HP:0001251	Ataxia	HP:0040283	ORPHA:79242
3141	HLCS	HP:0001263	Global developmental delay	-	OMIM:253270
3141	HLCS	HP:0001259	Coma	-	OMIM:253270
3141	HLCS	HP:0001259	Coma	HP:0040283	ORPHA:79242
3141	HLCS	HP:0007549	Desquamation of skin soon after birth	HP:0040283	ORPHA:79242
3141	HLCS	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:253270
3141	HLCS	HP:0000007	Autosomal recessive inheritance	-	OMIM:253270
3141	HLCS	HP:0002789	Tachypnea	-	OMIM:253270
3141	HLCS	HP:0002789	Tachypnea	HP:0040282	ORPHA:79242
3141	HLCS	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:79242
3141	HLCS	HP:0002013	Vomiting	-	OMIM:253270
3141	HLCS	HP:0002098	Respiratory distress	HP:0040282	ORPHA:79242
3141	HLCS	HP:0002039	Anorexia	HP:0040281	ORPHA:79242
3141	HLCS	HP:0033111	3-hydroxyisovaleric aciduria	1/1	OMIM:253270
3141	HLCS	HP:0001096	Keratoconjunctivitis	HP:0040281	ORPHA:79242
3141	HLCS	HP:0003623	Neonatal onset	1/1	OMIM:253270
3141	HLCS	HP:0001942	Metabolic acidosis	1/1	OMIM:253270
3141	HLCS	HP:0001992	Organic aciduria	-	OMIM:253270
3141	HLCS	HP:0001992	Organic aciduria	HP:0040282	ORPHA:79242
3141	HLCS	HP:0001987	Hyperammonemia	1/1	OMIM:253270
3141	HLCS	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:79242
3141	HLCS	HP:0000737	Irritability	-	OMIM:253270
3141	HLCS	HP:0000737	Irritability	HP:0040281	ORPHA:79242
3141	HLCS	HP:4000200	Reduced holocarboxylase synthetase activity in cultured fibroblasts	1/1	OMIM:253270
3141	HLCS	HP:0003128	Lactic acidosis	1/1	OMIM:253270
3141	HLCS	HP:0000988	Skin rash	-	OMIM:253270
3141	HLCS	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:79242
3141	HLCS	HP:0001596	Alopecia	-	OMIM:253270
3141	HLCS	HP:0001596	Alopecia	HP:0040283	ORPHA:79242
3141	HLCS	HP:0002883	Hyperventilation	-	OMIM:253270
3141	HLCS	HP:0001510	Growth delay	HP:0040281	ORPHA:79242
3141	HLCS	HP:0011127	Perioral eczema	HP:0040281	ORPHA:79242
3141	HLCS	HP:0001824	Weight loss	HP:0040281	ORPHA:79242
3141	HLCS	HP:0001873	Thrombocytopenia	-	OMIM:253270
3141	HLCS	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:79242
3145	HMBS	HP:0002490	Increased CSF lactate	2/3	OMIM:620711
3145	HMBS	HP:0002460	Distal muscle weakness	HP:0040283	ORPHA:79276
3145	HMBS	HP:6000536	Elevated urinary coproporphyrin level	2/2	OMIM:620704
3145	HMBS	HP:0001272	Cerebellar atrophy	3/3	OMIM:620711
3145	HMBS	HP:0001268	Mental deterioration	HP:0040282	ORPHA:79276
3145	HMBS	HP:0001289	Confusion	HP:0040283	ORPHA:79276
3145	HMBS	HP:0001250	Seizure	-	OMIM:176000
3145	HMBS	HP:0001250	Seizure	HP:0040283	ORPHA:79276
3145	HMBS	HP:0001251	Ataxia	1/2	OMIM:620704
3145	HMBS	HP:0001251	Ataxia	2/2	OMIM:620711
3145	HMBS	HP:0001265	Hyporeflexia	1/3	OMIM:620704
3145	HMBS	HP:0002595	Ileus	HP:0040283	ORPHA:79276
3145	HMBS	HP:0001263	Global developmental delay	2/3	OMIM:620704
3145	HMBS	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:79276
3145	HMBS	HP:0002590	Paralytic ileus	-	OMIM:176000
3145	HMBS	HP:0001259	Coma	HP:0040284	ORPHA:79276
3145	HMBS	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:79276
3145	HMBS	HP:0002505	Loss of ambulation	2/2	OMIM:620711
3145	HMBS	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:79276
3145	HMBS	HP:0000020	Urinary incontinence	-	OMIM:176000
3145	HMBS	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:79276
3145	HMBS	HP:0000016	Urinary retention	-	OMIM:176000
3145	HMBS	HP:0000016	Urinary retention	HP:0040284	ORPHA:79276
3145	HMBS	HP:0008897	Postnatal growth retardation	1/2	OMIM:620704
3145	HMBS	HP:0001324	Muscle weakness	-	OMIM:176000
3145	HMBS	HP:0000007	Autosomal recessive inheritance	-	OMIM:620704
3145	HMBS	HP:0000007	Autosomal recessive inheritance	-	OMIM:620711
3145	HMBS	HP:0001337	Tremor	HP:0040284	ORPHA:79276
3145	HMBS	HP:0000006	Autosomal dominant inheritance	-	OMIM:176000
3145	HMBS	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040283	ORPHA:79276
3145	HMBS	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040283	ORPHA:79276
3145	HMBS	HP:0008936	Axial hypotonia	1/1	OMIM:620704
3145	HMBS	HP:0006286	Yellow-brown discoloration of the teeth	1/2	OMIM:620704
3145	HMBS	HP:0001402	Hepatocellular carcinoma	-	OMIM:176000
3145	HMBS	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:79276
3145	HMBS	HP:0002018	Nausea	-	OMIM:176000
3145	HMBS	HP:0002019	Constipation	-	OMIM:176000
3145	HMBS	HP:0002019	Constipation	HP:0040282	ORPHA:79276
3145	HMBS	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:79276
3145	HMBS	HP:0002027	Abdominal pain	-	OMIM:176000
3145	HMBS	HP:0002027	Abdominal pain	HP:0040281	ORPHA:79276
3145	HMBS	HP:0040319	Dark urine	HP:0040283	ORPHA:79276
3145	HMBS	HP:0040318	Red urine	1/3	OMIM:620704
3145	HMBS	HP:0002014	Diarrhea	-	OMIM:176000
3145	HMBS	HP:0002014	Diarrhea	HP:0040283	ORPHA:79276
3145	HMBS	HP:0002013	Vomiting	-	OMIM:176000
3145	HMBS	HP:0002080	Intention tremor	1/2	OMIM:620704
3145	HMBS	HP:0100543	Cognitive impairment	2/4	OMIM:620711
3145	HMBS	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:79276
3145	HMBS	HP:0100518	Dysuria	-	OMIM:176000
3145	HMBS	HP:0100518	Dysuria	HP:0040284	ORPHA:79276
3145	HMBS	HP:0010473	Porphyrinuria	HP:0040281	ORPHA:79276
3145	HMBS	HP:0003474	Somatic sensory dysfunction	HP:0040283	ORPHA:79276
3145	HMBS	HP:0003470	Paralysis	-	OMIM:176000
3145	HMBS	HP:0003489	Acute episodes of neuropathic symptoms	-	OMIM:176000
3145	HMBS	HP:0003487	Babinski sign	1/1	OMIM:620704
3145	HMBS	HP:0003418	Back pain	HP:0040282	ORPHA:79276
3145	HMBS	HP:0002188	Delayed CNS myelination	1/1	OMIM:620704
3145	HMBS	HP:0002186	Apraxia	2/2	OMIM:620711
3145	HMBS	HP:0003401	Paresthesia	-	OMIM:176000
3145	HMBS	HP:0003577	Congenital onset	1/1	OMIM:620704
3145	HMBS	HP:0003577	Congenital onset	1/3	OMIM:620711
3145	HMBS	HP:0002240	Hepatomegaly	2/3	OMIM:620704
3145	HMBS	HP:0002203	Respiratory paralysis	-	OMIM:176000
3145	HMBS	HP:0002203	Respiratory paralysis	HP:0040283	ORPHA:79276
3145	HMBS	HP:0100785	Insomnia	HP:0040283	ORPHA:79276
3145	HMBS	HP:0032002	Orange urine	1/3	OMIM:620704
3145	HMBS	HP:0011999	Paranoia	HP:0040283	ORPHA:79276
3145	HMBS	HP:0007024	Pseudobulbar paralysis	HP:0040283	ORPHA:79276
3145	HMBS	HP:0007002	Motor axonal neuropathy	HP:0040283	ORPHA:79276
3145	HMBS	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/2	OMIM:620704
3145	HMBS	HP:0002354	Memory impairment	HP:0040283	ORPHA:79276
3145	HMBS	HP:0002317	Unsteady gait	1/1	OMIM:620711
3145	HMBS	HP:0002313	Spastic paraparesis	4/4	OMIM:620711
3145	HMBS	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:79276
3145	HMBS	HP:0010808	Protruding tongue	1/3	OMIM:620704
3145	HMBS	HP:0007141	Sensorimotor neuropathy	1/1	OMIM:620704
3145	HMBS	HP:0007141	Sensorimotor neuropathy	3/3	OMIM:620711
3145	HMBS	HP:0009763	Limb pain	HP:0040282	ORPHA:79276
3145	HMBS	HP:0003623	Neonatal onset	1/1	OMIM:620704
3145	HMBS	HP:0003621	Juvenile onset	1/1	OMIM:620711
3145	HMBS	HP:0007178	Motor polyneuropathy	HP:0040283	ORPHA:79276
3145	HMBS	HP:0006824	Cranial nerve paralysis	HP:0040282	ORPHA:79276
3145	HMBS	HP:0031890	Increased urine urobilinogen	3/3	OMIM:620704
3145	HMBS	HP:0000639	Nystagmus	2/2	OMIM:620711
3145	HMBS	HP:0000648	Optic atrophy	2/2	OMIM:620711
3145	HMBS	HP:0001945	Fever	HP:0040283	ORPHA:79276
3145	HMBS	HP:0000609	Optic nerve hypoplasia	1/1	OMIM:620704
3145	HMBS	HP:0001903	Anemia	1/3	OMIM:620704
3145	HMBS	HP:0004347	Weakness of muscles of respiration	HP:0040283	ORPHA:79276
3145	HMBS	HP:0031936	Delayed ability to walk	1/2	OMIM:620711
3145	HMBS	HP:0000738	Hallucinations	HP:0040283	ORPHA:79276
3145	HMBS	HP:0000739	Anxiety	-	OMIM:176000
3145	HMBS	HP:0000739	Anxiety	HP:0040283	ORPHA:79276
3145	HMBS	HP:0000716	Depression	-	OMIM:176000
3145	HMBS	HP:0000716	Depression	HP:0040283	ORPHA:79276
3145	HMBS	HP:0000711	Restlessness	HP:0040283	ORPHA:79276
3145	HMBS	HP:0000725	Psychotic episodes	-	OMIM:176000
3145	HMBS	HP:0011463	Childhood onset	1/1	OMIM:620704
3145	HMBS	HP:0011463	Childhood onset	2/3	OMIM:620711
3145	HMBS	HP:0003163	Elevated urinary delta-aminolevulinic acid	-	OMIM:176000
3145	HMBS	HP:0003163	Elevated urinary delta-aminolevulinic acid	HP:0040281	ORPHA:79276
3145	HMBS	HP:0000822	Hypertension	-	OMIM:176000
3145	HMBS	HP:0000822	Hypertension	HP:0040282	ORPHA:79276
3145	HMBS	HP:0003270	Abdominal distention	HP:0040283	ORPHA:79276
3145	HMBS	HP:4000199	Reduced erythrocyte porphobilinogen deaminase activity	3/3	OMIM:620704
3145	HMBS	HP:4000199	Reduced erythrocyte porphobilinogen deaminase activity	-	OMIM:176000
3145	HMBS	HP:0030833	Neck pain	HP:0040282	ORPHA:79276
3145	HMBS	HP:0000975	Hyperhidrosis	HP:0040284	ORPHA:79276
3145	HMBS	HP:0000280	Coarse facial features	1/3	OMIM:620704
3145	HMBS	HP:0002808	Kyphosis	1/3	OMIM:620704
3145	HMBS	HP:0012217	Increased urinary porphobilinogen	HP:0040281	ORPHA:79276
3145	HMBS	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:79276
3145	HMBS	HP:0002904	Hyperbilirubinemia	1/3	OMIM:620704
3145	HMBS	HP:0002902	Hyponatremia	HP:0040283	ORPHA:79276
3145	HMBS	HP:0000365	Hearing impairment	1/3	OMIM:620711
3145	HMBS	HP:0000343	Long philtrum	1/3	OMIM:620704
3145	HMBS	HP:0001649	Tachycardia	-	OMIM:176000
3145	HMBS	HP:0001649	Tachycardia	HP:0040282	ORPHA:79276
3145	HMBS	HP:0002951	Partial absence of cerebellar vermis	1/2	OMIM:620704
3145	HMBS	HP:0011121	Abnormal skin morphology	-	ORPHA:79276
3145	HMBS	HP:0001744	Splenomegaly	2/3	OMIM:620704
3145	HMBS	HP:0000518	Cataract	2/3	OMIM:620704
3145	HMBS	HP:0000529	Progressive visual loss	1/1	OMIM:620711
3145	HMBS	HP:0000508	Ptosis	1/1	OMIM:620704
3149	HMGB3	HP:0001249	Intellectual disability	4/4	OMIM:300915
3149	HMGB3	HP:0001263	Global developmental delay	4/4	OMIM:300915
3149	HMGB3	HP:0012043	Pendular nystagmus	1/1	OMIM:300915
3149	HMGB3	HP:0006304	Widely-spaced incisors	1/1	OMIM:300915
3149	HMGB3	HP:0002751	Kyphoscoliosis	4/4	OMIM:300915
3149	HMGB3	HP:0001417	X-linked inheritance	-	OMIM:300915
3149	HMGB3	HP:0003577	Congenital onset	4/4	OMIM:300915
3149	HMGB3	HP:0000612	Iris coloboma	4/4	OMIM:300915
3149	HMGB3	HP:0004322	Short stature	3/4	OMIM:300915
3149	HMGB3	HP:0040080	Anteverted ears	1/1	OMIM:300915
3149	HMGB3	HP:0000252	Microcephaly	3/4	OMIM:300915
3149	HMGB3	HP:0000482	Microcornea	4/4	OMIM:300915
3149	HMGB3	HP:0000508	Ptosis	4/4	OMIM:300915
3149	HMGB3	HP:0000568	Microphthalmia	4/4	OMIM:300915
3149	HMGB3	HP:0000565	Esotropia	1/1	OMIM:300915
3149	HMGB3	HP:0000567	Chorioretinal coloboma	1/1	OMIM:300915
3155	HMGCL	HP:0033596	Elevated urinary 3-methylcrotonylglycine level	-	OMIM:246450
3155	HMGCL	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:20
3155	HMGCL	HP:0001298	Encephalopathy	HP:0040283	ORPHA:20
3155	HMGCL	HP:0001298	Encephalopathy	5/34	OMIM:246450
3155	HMGCL	HP:0001254	Lethargy	HP:0040282	ORPHA:20
3155	HMGCL	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:20
3155	HMGCL	HP:0001250	Seizure	HP:0040282	ORPHA:20
3155	HMGCL	HP:0001250	Seizure	17/34	OMIM:246450
3155	HMGCL	HP:0001252	Hypotonia	HP:0040282	ORPHA:20
3155	HMGCL	HP:0001252	Hypotonia	11/34	OMIM:246450
3155	HMGCL	HP:0001251	Ataxia	HP:0040284	ORPHA:20
3155	HMGCL	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:20
3155	HMGCL	HP:0001265	Hyporeflexia	2/34	OMIM:246450
3155	HMGCL	HP:0001260	Dysarthria	HP:0040284	ORPHA:20
3155	HMGCL	HP:0001263	Global developmental delay	17/35	OMIM:246450
3155	HMGCL	HP:0001262	Excessive daytime somnolence	-	OMIM:246450
3155	HMGCL	HP:0001257	Spasticity	HP:0040284	ORPHA:20
3155	HMGCL	HP:0001257	Spasticity	1/34	OMIM:246450
3155	HMGCL	HP:0001259	Coma	HP:0040283	ORPHA:20
3155	HMGCL	HP:0001259	Coma	-	OMIM:246450
3155	HMGCL	HP:0002572	Episodic vomiting	HP:0040282	ORPHA:20
3155	HMGCL	HP:0002572	Episodic vomiting	17/34	OMIM:246450
3155	HMGCL	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:20
3155	HMGCL	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:246450
3155	HMGCL	HP:0003819	Death in childhood	-	OMIM:246450
3155	HMGCL	HP:0001325	Hypoglycemic coma	HP:0040284	ORPHA:20
3155	HMGCL	HP:0000007	Autosomal recessive inheritance	-	OMIM:246450
3155	HMGCL	HP:0001336	Myoclonus	HP:0040283	ORPHA:20
3155	HMGCL	HP:0001336	Myoclonus	5/34	OMIM:246450
3155	HMGCL	HP:0002615	Hypotension	HP:0040283	ORPHA:20
3155	HMGCL	HP:0410066	Increased level of hippuric acid in urine	-	OMIM:246450
3155	HMGCL	HP:0410051	Increased level of 3-hydroxy-3-methylglutaric acid in urine	-	OMIM:246450
3155	HMGCL	HP:0002789	Tachypnea	HP:0040282	ORPHA:20
3155	HMGCL	HP:0002014	Diarrhea	HP:0040283	ORPHA:20
3155	HMGCL	HP:0002014	Diarrhea	3/34	OMIM:246450
3155	HMGCL	HP:0003344	3-Methylglutaric aciduria	HP:0040281	ORPHA:20
3155	HMGCL	HP:0003344	3-Methylglutaric aciduria	-	OMIM:246450
3155	HMGCL	HP:0002045	Hypothermia	HP:0040284	ORPHA:20
3155	HMGCL	HP:0002039	Anorexia	HP:0040282	ORPHA:20
3155	HMGCL	HP:0008151	Prolonged prothrombin time	HP:0040282	ORPHA:20
3155	HMGCL	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:20
3155	HMGCL	HP:0002151	Increased circulating lactate concentration	7/12	OMIM:246450
3155	HMGCL	HP:0002149	Hyperuricemia	HP:0040282	ORPHA:20
3155	HMGCL	HP:0002149	Hyperuricemia	-	OMIM:246450
3155	HMGCL	HP:0002104	Apnea	HP:0040283	ORPHA:20
3155	HMGCL	HP:6000216	Reduced HMG-CoA lyase activity in cultured fibroblasts	13/13	OMIM:246450
3155	HMGCL	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:20
3155	HMGCL	HP:0002240	Hepatomegaly	13/34	OMIM:246450
3155	HMGCL	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:20
3155	HMGCL	HP:0002353	EEG abnormality	HP:0040282	ORPHA:20
3155	HMGCL	HP:0002353	EEG abnormality	-	OMIM:246450
3155	HMGCL	HP:0002352	Leukoencephalopathy	HP:0040284	ORPHA:20
3155	HMGCL	HP:0002329	Drowsiness	13/34	OMIM:246450
3155	HMGCL	HP:0032198	Decreased prothrombin time	6/20	OMIM:246450
3155	HMGCL	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:20
3155	HMGCL	HP:0001944	Dehydration	HP:0040283	ORPHA:20
3155	HMGCL	HP:0001944	Dehydration	3/34	OMIM:246450
3155	HMGCL	HP:0001943	Hypoglycemia	25/28	OMIM:246450
3155	HMGCL	HP:0001945	Fever	HP:0040283	ORPHA:20
3155	HMGCL	HP:0001945	Fever	3/34	OMIM:246450
3155	HMGCL	HP:0001942	Metabolic acidosis	HP:0040281	ORPHA:20
3155	HMGCL	HP:0001942	Metabolic acidosis	20/20	OMIM:246450
3155	HMGCL	HP:0001958	Nonketotic hypoglycemia	HP:0040281	ORPHA:20
3155	HMGCL	HP:0001903	Anemia	HP:0040282	ORPHA:20
3155	HMGCL	HP:0001903	Anemia	-	OMIM:246450
3155	HMGCL	HP:0001992	Organic aciduria	-	OMIM:246450
3155	HMGCL	HP:0001988	Recurrent hypoglycemia	HP:0040282	ORPHA:20
3155	HMGCL	HP:0001987	Hyperammonemia	HP:0040281	ORPHA:20
3155	HMGCL	HP:0001987	Hyperammonemia	19/20	OMIM:246450
3155	HMGCL	HP:0031956	Elevated circulating aspartate aminotransferase concentration	14/20	OMIM:246450
3155	HMGCL	HP:0031962	Elevated serum anion gap	9/10	OMIM:246450
3155	HMGCL	HP:0031964	Elevated circulating alanine aminotransferase concentration	14/20	OMIM:246450
3155	HMGCL	HP:0000741	Apathy	HP:0040282	ORPHA:20
3155	HMGCL	HP:0000741	Apathy	13/34	OMIM:246450
3155	HMGCL	HP:0003150	Glutaric aciduria	-	OMIM:246450
3155	HMGCL	HP:0003234	Decreased circulating carnitine concentration	-	OMIM:246450
3155	HMGCL	HP:0000980	Pallor	HP:0040283	ORPHA:20
3155	HMGCL	HP:0000980	Pallor	10/34	OMIM:246450
3155	HMGCL	HP:0000952	Jaundice	HP:0040283	ORPHA:20
3155	HMGCL	HP:0000969	Edema	HP:0040283	ORPHA:20
3155	HMGCL	HP:0000252	Microcephaly	HP:0040284	ORPHA:20
3155	HMGCL	HP:0000252	Microcephaly	1/34	OMIM:246450
3155	HMGCL	HP:0011099	Spastic hemiparesis	HP:0040284	ORPHA:20
3155	HMGCL	HP:0012378	Fatigue	HP:0040283	ORPHA:20
3155	HMGCL	HP:0006582	Reye syndrome-like episodes	HP:0040282	ORPHA:20
3155	HMGCL	HP:0006561	Lipid accumulation in hepatocytes	HP:0040282	ORPHA:20
3155	HMGCL	HP:0002919	Ketonuria	HP:0040283	ORPHA:20
3155	HMGCL	HP:0002919	Ketonuria	2/7	OMIM:246450
3155	HMGCL	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:20
3155	HMGCL	HP:0001695	Cardiac arrest	HP:0040284	ORPHA:20
3155	HMGCL	HP:0001695	Cardiac arrest	1/34	OMIM:246450
3155	HMGCL	HP:0001644	Dilated cardiomyopathy	HP:0040284	ORPHA:20
3155	HMGCL	HP:0001735	Acute pancreatitis	HP:0040284	ORPHA:20
3155	HMGCL	HP:0001824	Weight loss	HP:0040283	ORPHA:20
3155	HMGCL	HP:0001894	Thrombocytosis	HP:0040283	ORPHA:20
3155	HMGCL	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:20
3156	HMGCR	HP:0410174	Increased circulating troponin T concentration	4/4	OMIM:620375
3156	HMGCR	HP:0025168	Left ventricular diastolic dysfunction	1/4	OMIM:620375
3156	HMGCR	HP:0007210	Lower limb amyotrophy	3/3	OMIM:620375
3156	HMGCR	HP:0003738	Exercise-induced myalgia	6/6	OMIM:620375
3156	HMGCR	HP:0003701	Proximal muscle weakness	9/9	OMIM:620375
3156	HMGCR	HP:0001284	Areflexia	1/1	OMIM:620375
3156	HMGCR	HP:0001265	Hyporeflexia	3/3	OMIM:620375
3156	HMGCR	HP:0410263	Brain imaging abnormality	0/5	OMIM:620375
3156	HMGCR	HP:0002505	Loss of ambulation	5/8	OMIM:620375
3156	HMGCR	HP:0003803	Type 1 muscle fiber predominance	4/4	OMIM:620375
3156	HMGCR	HP:0000007	Autosomal recessive inheritance	-	OMIM:620375
3156	HMGCR	HP:0001315	Reduced tendon reflexes	6/6	OMIM:620375
3156	HMGCR	HP:0008994	Proximal muscle weakness in lower limbs	5/6	OMIM:620375
3156	HMGCR	HP:0008997	Proximal muscle weakness in upper limbs	4/6	OMIM:620375
3156	HMGCR	HP:0008981	Calf muscle hypertrophy	3/3	OMIM:620375
3156	HMGCR	HP:0002747	Respiratory insufficiency due to muscle weakness	3/3	OMIM:620375
3156	HMGCR	HP:0003327	Axial muscle weakness	7/7	OMIM:620375
3156	HMGCR	HP:0003326	Myalgia	3/3	OMIM:620375
3156	HMGCR	HP:0002015	Dysphagia	0/6	OMIM:620375
3156	HMGCR	HP:0002098	Respiratory distress	2/5	OMIM:620375
3156	HMGCR	HP:0002093	Respiratory insufficiency	2/5	OMIM:620375
3156	HMGCR	HP:0010602	Type 2 muscle fiber predominance	1/1	OMIM:620375
3156	HMGCR	HP:0003596	Middle age onset	6/6	OMIM:620375
3156	HMGCR	HP:0003593	Infantile onset	2/2	OMIM:620375
3156	HMGCR	HP:0004887	Respiratory failure requiring assisted ventilation	1/1	OMIM:620375
3156	HMGCR	HP:0003687	Centrally nucleated skeletal muscle fibers	3/3	OMIM:620375
3156	HMGCR	HP:0003621	Juvenile onset	1/1	OMIM:620375
3156	HMGCR	HP:0031956	Elevated circulating aspartate aminotransferase concentration	4/6	OMIM:620375
3156	HMGCR	HP:0031964	Elevated circulating alanine aminotransferase concentration	3/6	OMIM:620375
3156	HMGCR	HP:0004379	Abnormality of alkaline phosphatase level	0/5	OMIM:620375
3156	HMGCR	HP:0011463	Childhood onset	1/1	OMIM:620375
3156	HMGCR	HP:0009129	Upper limb amyotrophy	4/4	OMIM:620375
3156	HMGCR	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:620375
3156	HMGCR	HP:0040081	Abnormal circulating creatine kinase concentration	0/1	OMIM:620375
3156	HMGCR	HP:0003236	Elevated circulating creatine kinase concentration	5/5	OMIM:620375
3156	HMGCR	HP:0100297	Increased endomysial connective tissue	2/3	OMIM:620375
3156	HMGCR	HP:0012240	Increased intramyocellular lipid droplets	1/3	OMIM:620375
3156	HMGCR	HP:0030099	Reduced muscle fiber alpha dystroglycan	1/1	OMIM:620375
3158	HMGCS2	HP:0001298	Encephalopathy	9/10	OMIM:605911
3158	HMGCS2	HP:0001250	Seizure	HP:0040281	ORPHA:35701
3158	HMGCS2	HP:0001250	Seizure	13/14	OMIM:605911
3158	HMGCS2	HP:0001259	Coma	16/20	OMIM:605911
3158	HMGCS2	HP:0002570	Steatorrhea	1/2	OMIM:605911
3158	HMGCS2	HP:0001397	Hepatic steatosis	4/5	OMIM:605911
3158	HMGCS2	HP:0001325	Hypoglycemic coma	1/1	OMIM:605911
3158	HMGCS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:605911
3158	HMGCS2	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:605911
3158	HMGCS2	HP:0002014	Diarrhea	1/1	OMIM:605911
3158	HMGCS2	HP:0002013	Vomiting	1/1	OMIM:605911
3158	HMGCS2	HP:0002148	Hypophosphatemia	3/3	OMIM:605911
3158	HMGCS2	HP:0003593	Infantile onset	15/29	OMIM:605911
3158	HMGCS2	HP:0002240	Hepatomegaly	15/18	OMIM:605911
3158	HMGCS2	HP:0003621	Juvenile onset	1/29	OMIM:605911
3158	HMGCS2	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:35701
3158	HMGCS2	HP:0001943	Hypoglycemia	25/28	OMIM:605911
3158	HMGCS2	HP:0001942	Metabolic acidosis	20/22	OMIM:605911
3158	HMGCS2	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:35701
3158	HMGCS2	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:605911
3158	HMGCS2	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:605911
3158	HMGCS2	HP:0011463	Childhood onset	13/29	OMIM:605911
3158	HMGCS2	HP:0030781	Increased circulating free fatty acid level	13/13	OMIM:605911
3158	HMGCS2	HP:0003215	Dicarboxylic aciduria	21/22	OMIM:605911
3158	HMGCS2	HP:0040155	Elevated urinary 3-hydroxybutyric acid	6/7	OMIM:605911
3158	HMGCS2	HP:0002919	Ketonuria	7/11	OMIM:605911
3158	HMGCS2	HP:0002910	Elevated circulating hepatic transaminase concentration	13/16	OMIM:605911
3159	HMGA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
3159	HMGA1	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
3159	HMGA1	HP:0003584	Late onset	-	OMIM:125853
3159	HMGA1	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
3159	HMGA1	HP:0000855	Insulin resistance	-	OMIM:125853
3161	HMMR	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
3161	HMMR	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
3161	HMMR	HP:0003002	Breast carcinoma	-	OMIM:114480
3162	HMOX1	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
3162	HMOX1	HP:0100806	Sepsis	1/1	OMIM:614034
3162	HMOX1	HP:0001263	Global developmental delay	0/1	OMIM:614034
3162	HMOX1	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
3162	HMOX1	HP:0025289	Cervical lymphadenopathy	1/1	OMIM:614034
3162	HMOX1	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
3162	HMOX1	HP:0000093	Proteinuria	2/2	OMIM:614034
3162	HMOX1	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
3162	HMOX1	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
3162	HMOX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614034
3162	HMOX1	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:614034
3162	HMOX1	HP:0000123	Nephritis	1/1	OMIM:614034
3162	HMOX1	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
3162	HMOX1	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:614034
3162	HMOX1	HP:0002716	Lymphadenopathy	1/1	OMIM:614034
3162	HMOX1	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
3162	HMOX1	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
3162	HMOX1	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
3162	HMOX1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
3162	HMOX1	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
3162	HMOX1	HP:0002099	Asthma	HP:0040283	ORPHA:586
3162	HMOX1	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
3162	HMOX1	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
3162	HMOX1	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
3162	HMOX1	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
3162	HMOX1	HP:0002240	Hepatomegaly	1/1	OMIM:614034
3162	HMOX1	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
3162	HMOX1	HP:0004844	Coombs-positive hemolytic anemia	1/1	OMIM:614034
3162	HMOX1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:614034
3162	HMOX1	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:614034
3162	HMOX1	HP:0000739	Anxiety	HP:0040283	ORPHA:586
3162	HMOX1	HP:0000716	Depression	HP:0040283	ORPHA:586
3162	HMOX1	HP:0000790	Hematuria	2/2	OMIM:614034
3162	HMOX1	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
3162	HMOX1	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
3162	HMOX1	HP:0030783	Increased circulating interleukin 6 concentration	1/1	OMIM:614034
3162	HMOX1	HP:0000822	Hypertension	1/1	OMIM:614034
3162	HMOX1	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
3162	HMOX1	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
3162	HMOX1	HP:0003281	Increased circulating ferritin concentration	1/1	OMIM:614034
3162	HMOX1	HP:0003251	Male infertility	HP:0040282	ORPHA:586
3162	HMOX1	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
3162	HMOX1	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
3162	HMOX1	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
3162	HMOX1	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
3162	HMOX1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
3162	HMOX1	HP:0001510	Growth delay	1/1	OMIM:614034
3162	HMOX1	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
3162	HMOX1	HP:0006510	Chronic pulmonary obstruction	-	OMIM:606963
3162	HMOX1	HP:0012375	Chemosis	1/1	OMIM:614034
3162	HMOX1	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
3162	HMOX1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
3162	HMOX1	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
3162	HMOX1	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
3162	HMOX1	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
3162	HMOX1	HP:0001746	Asplenia	1/1	OMIM:614034
3162	HMOX1	HP:0000421	Epistaxis	1/1	OMIM:614034
3162	HMOX1	HP:0011227	Elevated circulating C-reactive protein concentration	1/1	OMIM:614034
3162	HMOX1	HP:0001894	Thrombocytosis	1/1	OMIM:614034
3162	HMOX1	HP:0001878	Hemolytic anemia	1/1	OMIM:614034
3166	HMX1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
3166	HMX1	HP:0001104	Macular hypoplasia	1/3	OMIM:612109
3166	HMX1	HP:0003778	Short mandibular rami	1/3	OMIM:612109
3166	HMX1	HP:0032286	Ultra-low vision with retained light perception	1/3	OMIM:612109
3166	HMX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612109
3166	HMX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
3166	HMX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
3166	HMX1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
3166	HMX1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
3166	HMX1	HP:0020049	Exodeviation	1/2	OMIM:612109
3166	HMX1	HP:0003621	Juvenile onset	8/19	OMIM:180100
3166	HMX1	HP:0000639	Nystagmus	1/2	OMIM:612109
3166	HMX1	HP:0000647	Sclerocornea	3/5	OMIM:612109
3166	HMX1	HP:0000612	Iris coloboma	3/3	OMIM:612109
3166	HMX1	HP:0000627	Posterior embryotoxon	2/2	OMIM:612109
3166	HMX1	HP:0000662	Nyctalopia	26/28	OMIM:180100
3166	HMX1	HP:0000667	Phthisis bulbi	1/3	OMIM:612109
3166	HMX1	HP:0000666	Horizontal nystagmus	1/3	OMIM:612109
3166	HMX1	HP:0006934	Congenital nystagmus	1/3	OMIM:612109
3166	HMX1	HP:0011484	Posterior synechiae of the anterior chamber	1/3	OMIM:612109
3166	HMX1	HP:0011463	Childhood onset	3/19	OMIM:180100
3166	HMX1	HP:0011462	Young adult onset	8/19	OMIM:180100
3166	HMX1	HP:0011523	Iris cyst	1/3	OMIM:612109
3166	HMX1	HP:0003298	Spina bifida occulta	1/3	OMIM:612109
3166	HMX1	HP:0007700	Ocular anterior segment dysgenesis	1/3	OMIM:612109
3166	HMX1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
3166	HMX1	HP:0025514	Morning glory anomaly	2/3	OMIM:612109
3166	HMX1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
3166	HMX1	HP:0000387	Absent earlobe	1/3	OMIM:612109
3166	HMX1	HP:0012376	Microphakia	2/3	OMIM:612109
3166	HMX1	HP:0000369	Low-set ears	2/2	OMIM:612109
3166	HMX1	HP:0007906	Ocular hypertension	-	OMIM:612109
3166	HMX1	HP:0000402	Stenosis of the external auditory canal	1/3	OMIM:612109
3166	HMX1	HP:0000480	Retinal coloboma	1/2	OMIM:612109
3166	HMX1	HP:0000482	Microcornea	3/5	OMIM:612109
3166	HMX1	HP:0000518	Cataract	3/3	OMIM:612109
3166	HMX1	HP:0000519	Developmental cataract	2/2	OMIM:612109
3166	HMX1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
3166	HMX1	HP:0000510	Rod-cone dystrophy	-	OMIM:612109
3166	HMX1	HP:0000579	Nasolacrimal duct obstruction	1/2	OMIM:612109
3166	HMX1	HP:0000575	Scotoma	5/18	OMIM:180100
3166	HMX1	HP:0000568	Microphthalmia	3/3	OMIM:612109
3166	HMX1	HP:0000567	Chorioretinal coloboma	1/3	OMIM:612109
3166	HMX1	HP:0000541	Retinal detachment	1/3	OMIM:612109
3166	HMX1	HP:0000533	Chorioretinal atrophy	1/3	OMIM:612109
3166	HMX1	HP:0000548	Cone/cone-rod dystrophy	1/3	OMIM:612109
3166	HMX1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
3166	HMX1	HP:0000545	Myopia	-	OMIM:180100
3170	FOXA2	HP:0009888	Abnormality of secondary sexual hair	HP:0040282	ORPHA:95494
3170	FOXA2	HP:0001274	Agenesis of corpus callosum	HP:0040284	ORPHA:95494
3170	FOXA2	HP:0001250	Seizure	HP:0040284	ORPHA:95494
3170	FOXA2	HP:0100842	Septo-optic dysplasia	HP:0040284	ORPHA:95494
3170	FOXA2	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:95494
3170	FOXA2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:95494
3170	FOXA2	HP:0001360	Holoprosencephaly	HP:0040284	ORPHA:95494
3170	FOXA2	HP:0001331	Absent septum pellucidum	HP:0040284	ORPHA:95494
3170	FOXA2	HP:0002615	Hypotension	HP:0040282	ORPHA:95494
3170	FOXA2	HP:0000141	Amenorrhea	HP:0040282	ORPHA:95494
3170	FOXA2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:95494
3170	FOXA2	HP:0002019	Constipation	HP:0040283	ORPHA:95494
3170	FOXA2	HP:0004637	Decreased cervical spine mobility	HP:0040284	ORPHA:95494
3170	FOXA2	HP:0010442	Polydactyly	HP:0040284	ORPHA:95494
3170	FOXA2	HP:0011755	Ectopic posterior pituitary	HP:0040284	ORPHA:95494
3170	FOXA2	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:95494
3170	FOXA2	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:95494
3170	FOXA2	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:95494
3170	FOXA2	HP:0010626	Anterior pituitary agenesis	HP:0040282	ORPHA:95494
3170	FOXA2	HP:0009099	Median cleft palate	HP:0040284	ORPHA:95494
3170	FOXA2	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:95494
3170	FOXA2	HP:0000609	Optic nerve hypoplasia	HP:0040284	ORPHA:95494
3170	FOXA2	HP:0011344	Severe global developmental delay	HP:0040284	ORPHA:95494
3170	FOXA2	HP:0005625	Osteoporosis of vertebrae	HP:0040283	ORPHA:95494
3170	FOXA2	HP:0012731	Ectopic anterior pituitary gland	HP:0040284	ORPHA:95494
3170	FOXA2	HP:0000789	Infertility	HP:0040282	ORPHA:95494
3170	FOXA2	HP:0000839	Pituitary dwarfism	HP:0040283	ORPHA:95494
3170	FOXA2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:95494
3170	FOXA2	HP:0000823	Delayed puberty	HP:0040283	ORPHA:95494
3170	FOXA2	HP:0040075	Hypopituitarism	HP:0040280	ORPHA:95494
3170	FOXA2	HP:0040086	Abnormal prolactin level	HP:0040282	ORPHA:95494
3170	FOXA2	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:95494
3170	FOXA2	HP:0000938	Osteopenia	HP:0040282	ORPHA:95494
3170	FOXA2	HP:0001510	Growth delay	HP:0040282	ORPHA:95494
3170	FOXA2	HP:0012378	Fatigue	HP:0040282	ORPHA:95494
3170	FOXA2	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:95494
3170	FOXA2	HP:0000478	Abnormality of the eye	HP:0040284	ORPHA:95494
3170	FOXA2	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:95494
3170	FOXA2	HP:0011297	Abnormal digit morphology	HP:0040284	ORPHA:95494
3172	HNF4A	HP:0001254	Lethargy	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0001250	Seizure	HP:0040282	ORPHA:263455
3172	HNF4A	HP:0001249	Intellectual disability	HP:0040282	ORPHA:263455
3172	HNF4A	HP:0002594	Pancreatic hypoplasia	HP:0040284	ORPHA:552
3172	HNF4A	HP:0001259	Coma	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0000093	Proteinuria	1/1	OMIM:616026
3172	HNF4A	HP:0000093	Proteinuria	HP:0040282	ORPHA:263455
3172	HNF4A	HP:0000077	Abnormality of the kidney	HP:0040284	ORPHA:552
3172	HNF4A	HP:0012028	Hepatocellular adenoma	HP:0040284	ORPHA:552
3172	HNF4A	HP:0001337	Tremor	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
3172	HNF4A	HP:0000006	Autosomal dominant inheritance	-	OMIM:125850
3172	HNF4A	HP:0000006	Autosomal dominant inheritance	-	OMIM:616026
3172	HNF4A	HP:0001319	Neonatal hypotonia	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0031284	Flushing	-	OMIM:125850
3172	HNF4A	HP:0000121	Nephrocalcinosis	-	OMIM:616026
3172	HNF4A	HP:0000119	Abnormality of the genitourinary system	HP:0040284	ORPHA:552
3172	HNF4A	HP:0000112	Nephropathy	HP:0040283	ORPHA:552
3172	HNF4A	HP:0000107	Renal cyst	HP:0040284	ORPHA:552
3172	HNF4A	HP:0002748	Rickets	1/1	OMIM:616026
3172	HNF4A	HP:0003355	Aminoaciduria	-	OMIM:616026
3172	HNF4A	HP:0002014	Diarrhea	HP:0040282	ORPHA:263455
3172	HNF4A	HP:0002013	Vomiting	HP:0040282	ORPHA:263455
3172	HNF4A	HP:0005979	Metabolic ketoacidosis	HP:0040282	ORPHA:263455
3172	HNF4A	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
3172	HNF4A	HP:0002148	Hypophosphatemia	1/1	OMIM:616026
3172	HNF4A	HP:0008255	Transient neonatal diabetes mellitus	HP:0040283	ORPHA:552
3172	HNF4A	HP:0002240	Hepatomegaly	1/1	OMIM:616026
3172	HNF4A	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0003584	Late onset	-	OMIM:125853
3172	HNF4A	HP:0003537	Hypouricemia	-	OMIM:616026
3172	HNF4A	HP:0002344	Progressive neurologic deterioration	HP:0040282	ORPHA:263455
3172	HNF4A	HP:0002329	Drowsiness	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0003623	Neonatal onset	1/1	OMIM:616026
3172	HNF4A	HP:0004912	Hypophosphatemic rickets	HP:0040282	ORPHA:263455
3172	HNF4A	HP:0004924	Abnormal oral glucose tolerance	HP:0040282	ORPHA:552
3172	HNF4A	HP:0004904	Maturity-onset diabetes of the young	-	OMIM:125850
3172	HNF4A	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
3172	HNF4A	HP:0001943	Hypoglycemia	1/1	OMIM:616026
3172	HNF4A	HP:0001942	Metabolic acidosis	1/1	OMIM:616026
3172	HNF4A	HP:0001953	Diabetic ketoacidosis	-	ORPHA:552
3172	HNF4A	HP:0001952	Glucose intolerance	HP:0040282	ORPHA:552
3172	HNF4A	HP:0001985	Hypoketotic hypoglycemia	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:552
3172	HNF4A	HP:0001998	Neonatal hypoglycemia	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0001994	Renal Fanconi syndrome	HP:0040282	ORPHA:263455
3172	HNF4A	HP:0004324	Increased body weight	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0004322	Short stature	-	OMIM:616026
3172	HNF4A	HP:0003076	Glycosuria	HP:0040282	ORPHA:552
3172	HNF4A	HP:0003076	Glycosuria	1/1	OMIM:616026
3172	HNF4A	HP:0003076	Glycosuria	HP:0040282	ORPHA:263455
3172	HNF4A	HP:0003074	Hyperglycemia	HP:0040282	ORPHA:552
3172	HNF4A	HP:0004359	Abnormal circulating fatty-acid concentration	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0000713	Agitation	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0003109	Hyperphosphaturia	-	OMIM:616026
3172	HNF4A	HP:0030794	Abnormal circulating C-peptide concentration	HP:0040282	ORPHA:552
3172	HNF4A	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:263455
3172	HNF4A	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:616026
3172	HNF4A	HP:0003162	Fasting hypoglycemia	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0000855	Insulin resistance	-	OMIM:125853
3172	HNF4A	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040283	ORPHA:552
3172	HNF4A	HP:0000842	Hyperinsulinemia	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0000819	Diabetes mellitus	HP:0040283	OMIM:616026
3172	HNF4A	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040283	ORPHA:552
3172	HNF4A	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0040214	Abnormal circulating insulin concentration	HP:0040282	ORPHA:552
3172	HNF4A	HP:0040217	Elevated hemoglobin A1c	HP:0040282	ORPHA:552
3172	HNF4A	HP:0040216	Hypoinsulinemia	HP:0040282	ORPHA:552
3172	HNF4A	HP:0004510	Pancreatic islet-cell hyperplasia	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0000980	Pallor	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0000956	Acanthosis nigricans	-	ORPHA:552
3172	HNF4A	HP:0030057	Autoimmune antibody positivity	-	ORPHA:552
3172	HNF4A	HP:0025502	Overweight	HP:0040283	ORPHA:552
3172	HNF4A	HP:0001520	Large for gestational age	HP:0040283	ORPHA:552
3172	HNF4A	HP:0001520	Large for gestational age	1/1	OMIM:616026
3172	HNF4A	HP:0001520	Large for gestational age	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:552
3172	HNF4A	HP:0001513	Obesity	HP:0040284	ORPHA:552
3172	HNF4A	HP:0012378	Fatigue	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0006568	Increased hepatic glycogen content	HP:0040282	ORPHA:263455
3172	HNF4A	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:616026
3172	HNF4A	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0001649	Tachycardia	HP:0040281	ORPHA:263455
3172	HNF4A	HP:0001738	Exocrine pancreatic insufficiency	HP:0040284	ORPHA:552
3172	HNF4A	HP:0000488	Retinopathy	HP:0040283	ORPHA:552
3176	HNMT	HP:0010864	Intellectual disability, severe	-	OMIM:616739
3176	HNMT	HP:0001270	Motor delay	HP:0040283	OMIM:616739
3176	HNMT	HP:0001249	Intellectual disability	-	OMIM:616739
3176	HNMT	HP:0001263	Global developmental delay	-	OMIM:616739
3176	HNMT	HP:0000007	Autosomal recessive inheritance	-	OMIM:616739
3176	HNMT	HP:0000006	Autosomal dominant inheritance	-	OMIM:600807
3176	HNMT	HP:0001426	Non-Mendelian inheritance	-	OMIM:600807
3176	HNMT	HP:0002099	Asthma	-	OMIM:600807
3176	HNMT	HP:0003593	Infantile onset	-	OMIM:616739
3176	HNMT	HP:4000007	Bronchoconstriction	-	OMIM:600807
3176	HNMT	HP:0000750	Delayed speech and language development	-	OMIM:616739
3176	HNMT	HP:0000252	Microcephaly	-	OMIM:616739
3176	HNMT	HP:0032933	Airway hyperresponsiveness	-	OMIM:600807
3178	HNRNPA1	HP:0001171	Split hand	HP:0040283	ORPHA:399086
3178	HNRNPA1	HP:0001171	Split hand	-	OMIM:610099
3178	HNRNPA1	HP:0002493	Upper motor neuron dysfunction	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0002463	Language impairment	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0002463	Language impairment	HP:0040283	ORPHA:803
3178	HNRNPA1	HP:0002460	Distal muscle weakness	HP:0040281	ORPHA:52430
3178	HNRNPA1	HP:0002460	Distal muscle weakness	-	OMIM:610099
3178	HNRNPA1	HP:0002442	Dyscalculia	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0002450	Abnormal motor neuron morphology	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0003738	Exercise-induced myalgia	2/5	OMIM:615424
3178	HNRNPA1	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:52430
3178	HNRNPA1	HP:0003700	Generalized amyotrophy	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:399086
3178	HNRNPA1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0001257	Spasticity	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
3178	HNRNPA1	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
3178	HNRNPA1	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:615426
3178	HNRNPA1	HP:0007354	Amyotrophic lateral sclerosis	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0002515	Waddling gait	HP:0040281	ORPHA:52430
3178	HNRNPA1	HP:0002505	Loss of ambulation	3/5	OMIM:615424
3178	HNRNPA1	HP:0003805	Rimmed vacuoles	HP:0040282	ORPHA:399086
3178	HNRNPA1	HP:0003805	Rimmed vacuoles	HP:0040281	ORPHA:52430
3178	HNRNPA1	HP:0003805	Rimmed vacuoles	2/3	OMIM:615424
3178	HNRNPA1	HP:0003805	Rimmed vacuoles	-	OMIM:610099
3178	HNRNPA1	HP:0003805	Rimmed vacuoles	-	OMIM:615426
3178	HNRNPA1	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
3178	HNRNPA1	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0002683	Abnormal calvaria morphology	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0012083	Ubiquitin-positive cerebral inclusion bodies	HP:0040281	ORPHA:52430
3178	HNRNPA1	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:610099
3178	HNRNPA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615424
3178	HNRNPA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615426
3178	HNRNPA1	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
3178	HNRNPA1	HP:0002797	Osteolysis	HP:0040282	ORPHA:52430
3178	HNRNPA1	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
3178	HNRNPA1	HP:0008994	Proximal muscle weakness in lower limbs	5/5	OMIM:615424
3178	HNRNPA1	HP:0008954	Intrinsic hand muscle atrophy	HP:0040282	ORPHA:399086
3178	HNRNPA1	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0002756	Pathologic fracture	HP:0040284	ORPHA:52430
3178	HNRNPA1	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0003307	Hyperlordosis	HP:0040281	ORPHA:52430
3178	HNRNPA1	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
3178	HNRNPA1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0003390	Sensory axonal neuropathy	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0003376	Steppage gait	HP:0040282	ORPHA:399086
3178	HNRNPA1	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
3178	HNRNPA1	HP:0003376	Steppage gait	-	OMIM:610099
3178	HNRNPA1	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:399086
3178	HNRNPA1	HP:0008180	Mildly elevated creatine kinase	-	OMIM:610099
3178	HNRNPA1	HP:0009473	Joint contracture of the hand	HP:0040282	ORPHA:399086
3178	HNRNPA1	HP:0009473	Joint contracture of the hand	20/20	OMIM:610099
3178	HNRNPA1	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
3178	HNRNPA1	HP:0002145	Frontotemporal dementia	HP:0040282	ORPHA:52430
3178	HNRNPA1	HP:0003470	Paralysis	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0003458	EMG: myopathic abnormalities	-	OMIM:610099
3178	HNRNPA1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:399086
3178	HNRNPA1	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:52430
3178	HNRNPA1	HP:0003444	EMG: chronic denervation signs	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0003445	EMG: neuropathic changes	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
3178	HNRNPA1	HP:0003596	Middle age onset	3/5	OMIM:615424
3178	HNRNPA1	HP:0003560	Muscular dystrophy	-	OMIM:610099
3178	HNRNPA1	HP:0003560	Muscular dystrophy	-	OMIM:615426
3178	HNRNPA1	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:615424
3178	HNRNPA1	HP:0003557	Increased variability in muscle fiber diameter	HP:0040281	ORPHA:52430
3178	HNRNPA1	HP:0007002	Motor axonal neuropathy	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0002380	Fasciculations	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0002381	Aphasia	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0003693	Distal amyotrophy	-	OMIM:610099
3178	HNRNPA1	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0003694	Late-onset proximal muscle weakness	-	OMIM:610099
3178	HNRNPA1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
3178	HNRNPA1	HP:0003687	Centrally nucleated skeletal muscle fibers	-	OMIM:615424
3178	HNRNPA1	HP:0003677	Slowly progressive	-	OMIM:610099
3178	HNRNPA1	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
3178	HNRNPA1	HP:0002300	Mutism	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0002312	Clumsiness	-	OMIM:610099
3178	HNRNPA1	HP:0002312	Clumsiness	HP:0040282	ORPHA:399086
3178	HNRNPA1	HP:0002307	Drooling	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0009073	Progressive proximal muscle weakness	HP:0040283	ORPHA:399086
3178	HNRNPA1	HP:0009063	Progressive distal muscle weakness	HP:0040282	ORPHA:399086
3178	HNRNPA1	HP:0009031	Amyotrophy of ankle musculature	HP:0040282	ORPHA:399086
3178	HNRNPA1	HP:0009023	Abdominal wall muscle weakness	5/5	OMIM:615424
3178	HNRNPA1	HP:0009027	Foot dorsiflexor weakness	5/5	OMIM:615424
3178	HNRNPA1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
3178	HNRNPA1	HP:0011314	Abnormal long bone morphology	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040282	ORPHA:399086
3178	HNRNPA1	HP:0004322	Short stature	HP:0040282	ORPHA:52430
3178	HNRNPA1	HP:0004326	Cachexia	HP:0040283	ORPHA:803
3178	HNRNPA1	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0004347	Weakness of muscles of respiration	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0000739	Anxiety	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0000716	Depression	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0011462	Young adult onset	2/5	OMIM:615424
3178	HNRNPA1	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
3178	HNRNPA1	HP:0003198	Myopathy	-	OMIM:615424
3178	HNRNPA1	HP:0000925	Abnormality of the vertebral column	HP:0040282	ORPHA:52430
3178	HNRNPA1	HP:0003155	Elevated circulating alkaline phosphatase concentration	3/5	OMIM:615424
3178	HNRNPA1	HP:0003155	Elevated circulating alkaline phosphatase concentration	-	OMIM:615426
3178	HNRNPA1	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:52430
3178	HNRNPA1	HP:0004490	Calvarial hyperostosis	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:52430
3178	HNRNPA1	HP:0003236	Elevated circulating creatine kinase concentration	5/5	OMIM:615424
3178	HNRNPA1	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0030838	Hip pain	HP:0040282	ORPHA:52430
3178	HNRNPA1	HP:0100299	Muscle fiber inclusion bodies	2/3	OMIM:615424
3178	HNRNPA1	HP:0100299	Muscle fiber inclusion bodies	-	OMIM:615426
3178	HNRNPA1	HP:0100297	Increased endomysial connective tissue	-	OMIM:615424
3178	HNRNPA1	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0012378	Fatigue	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0002936	Distal sensory impairment	HP:0040282	ORPHA:399086
3178	HNRNPA1	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0001638	Cardiomyopathy	-	ORPHA:399086
3178	HNRNPA1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0012444	Brain atrophy	HP:0040282	ORPHA:52430
3178	HNRNPA1	HP:0001760	Abnormal foot morphology	-	OMIM:610099
3178	HNRNPA1	HP:0006785	Limb-girdle muscular dystrophy	-	OMIM:615424
3178	HNRNPA1	HP:0000518	Cataract	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0001824	Weight loss	HP:0040282	ORPHA:803
3178	HNRNPA1	HP:0012548	Fatty replacement of skeletal muscle	HP:0040282	ORPHA:399086
3178	HNRNPA1	HP:0012548	Fatty replacement of skeletal muscle	HP:0040283	ORPHA:52430
3178	HNRNPA1	HP:0012531	Pain	HP:0040282	ORPHA:803
3181	HNRNPA2B1	HP:0002493	Upper motor neuron dysfunction	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0002463	Language impairment	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0002460	Distal muscle weakness	HP:0040281	ORPHA:52430
3181	HNRNPA2B1	HP:0002442	Dyscalculia	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0002450	Abnormal motor neuron morphology	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:52430
3181	HNRNPA2B1	HP:0003701	Proximal muscle weakness	1/1	OMIM:620460
3181	HNRNPA2B1	HP:0003700	Generalized amyotrophy	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0001270	Motor delay	1/1	OMIM:620460
3181	HNRNPA2B1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0007354	Amyotrophic lateral sclerosis	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0002515	Waddling gait	HP:0040281	ORPHA:52430
3181	HNRNPA2B1	HP:0002505	Loss of ambulation	1/1	OMIM:620460
3181	HNRNPA2B1	HP:0003805	Rimmed vacuoles	HP:0040281	ORPHA:52430
3181	HNRNPA2B1	HP:0003805	Rimmed vacuoles	2/2	OMIM:615422
3181	HNRNPA2B1	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0002683	Abnormal calvaria morphology	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0012083	Ubiquitin-positive cerebral inclusion bodies	HP:0040281	ORPHA:52430
3181	HNRNPA2B1	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0001324	Muscle weakness	1/1	OMIM:620460
3181	HNRNPA2B1	HP:0001324	Muscle weakness	-	OMIM:615422
3181	HNRNPA2B1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620460
3181	HNRNPA2B1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615422
3181	HNRNPA2B1	HP:0002797	Osteolysis	HP:0040282	ORPHA:52430
3181	HNRNPA2B1	HP:0008994	Proximal muscle weakness in lower limbs	1/1	OMIM:620460
3181	HNRNPA2B1	HP:0025406	Asthenia	7/7	OMIM:620460
3181	HNRNPA2B1	HP:0002756	Pathologic fracture	HP:0040284	ORPHA:52430
3181	HNRNPA2B1	HP:0003327	Axial muscle weakness	3/3	OMIM:620460
3181	HNRNPA2B1	HP:0002015	Dysphagia	9/9	OMIM:620460
3181	HNRNPA2B1	HP:0003307	Hyperlordosis	HP:0040281	ORPHA:52430
3181	HNRNPA2B1	HP:0100543	Cognitive impairment	2/5	OMIM:615422
3181	HNRNPA2B1	HP:0002093	Respiratory insufficiency	9/9	OMIM:620460
3181	HNRNPA2B1	HP:0003390	Sensory axonal neuropathy	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0002145	Frontotemporal dementia	-	OMIM:615422
3181	HNRNPA2B1	HP:0002145	Frontotemporal dementia	HP:0040282	ORPHA:52430
3181	HNRNPA2B1	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:52430
3181	HNRNPA2B1	HP:0003444	EMG: chronic denervation signs	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0003445	EMG: neuropathic changes	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0003593	Infantile onset	1/7	OMIM:620460
3181	HNRNPA2B1	HP:0003557	Increased variability in muscle fiber diameter	HP:0040281	ORPHA:52430
3181	HNRNPA2B1	HP:0034677	Ankle contracture	1/1	OMIM:620460
3181	HNRNPA2B1	HP:0007002	Motor axonal neuropathy	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0011968	Feeding difficulties	1/1	OMIM:620460
3181	HNRNPA2B1	HP:0002380	Fasciculations	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0002381	Aphasia	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0003690	Limb muscle weakness	1/1	OMIM:620460
3181	HNRNPA2B1	HP:0003687	Centrally nucleated skeletal muscle fibers	2/2	OMIM:615422
3181	HNRNPA2B1	HP:0100614	Myositis	-	OMIM:615422
3181	HNRNPA2B1	HP:0002300	Mutism	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0003621	Juvenile onset	2/7	OMIM:620460
3181	HNRNPA2B1	HP:0000602	Ophthalmoplegia	11/11	OMIM:620460
3181	HNRNPA2B1	HP:0011314	Abnormal long bone morphology	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0004322	Short stature	HP:0040282	ORPHA:52430
3181	HNRNPA2B1	HP:0034159	Paget disease of bone	5/5	OMIM:615422
3181	HNRNPA2B1	HP:0004347	Weakness of muscles of respiration	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0000708	Atypical behavior	1/5	OMIM:615422
3181	HNRNPA2B1	HP:0011463	Childhood onset	2/7	OMIM:620460
3181	HNRNPA2B1	HP:0011462	Young adult onset	2/7	OMIM:620460
3181	HNRNPA2B1	HP:0003198	Myopathy	5/5	OMIM:615422
3181	HNRNPA2B1	HP:0000925	Abnormality of the vertebral column	HP:0040282	ORPHA:52430
3181	HNRNPA2B1	HP:0003155	Elevated circulating alkaline phosphatase concentration	-	OMIM:615422
3181	HNRNPA2B1	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:52430
3181	HNRNPA2B1	HP:0004490	Calvarial hyperostosis	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:52430
3181	HNRNPA2B1	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:615422
3181	HNRNPA2B1	HP:0003202	Skeletal muscle atrophy	-	OMIM:615422
3181	HNRNPA2B1	HP:0030838	Hip pain	HP:0040282	ORPHA:52430
3181	HNRNPA2B1	HP:0100295	Muscle fiber atrophy	-	OMIM:615422
3181	HNRNPA2B1	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0001618	Dysphonia	5/5	OMIM:620460
3181	HNRNPA2B1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0012444	Brain atrophy	HP:0040282	ORPHA:52430
3181	HNRNPA2B1	HP:0000518	Cataract	HP:0040283	ORPHA:52430
3181	HNRNPA2B1	HP:0000508	Ptosis	11/11	OMIM:620460
3181	HNRNPA2B1	HP:0012548	Fatty replacement of skeletal muscle	HP:0040283	ORPHA:52430
3183	HNRNPC	HP:0010862	Delayed fine motor development	11/12	OMIM:620688
3183	HNRNPC	HP:0010864	Intellectual disability, severe	2/2	OMIM:620688
3183	HNRNPC	HP:0001276	Hypertonia	1/12	OMIM:620688
3183	HNRNPC	HP:0001256	Intellectual disability, mild	4/4	OMIM:620688
3183	HNRNPC	HP:0001252	Hypotonia	7/12	OMIM:620688
3183	HNRNPC	HP:0001263	Global developmental delay	13/13	OMIM:620688
3183	HNRNPC	HP:0001344	Absent speech	3/11	OMIM:620688
3183	HNRNPC	HP:0000006	Autosomal dominant inheritance	-	OMIM:620688
3183	HNRNPC	HP:0002069	Bilateral tonic-clonic seizure	2/13	OMIM:620688
3183	HNRNPC	HP:0002188	Delayed CNS myelination	1/10	OMIM:620688
3183	HNRNPC	HP:0002194	Delayed gross motor development	4/4	OMIM:620688
3183	HNRNPC	HP:0003593	Infantile onset	13/13	OMIM:620688
3183	HNRNPC	HP:0011968	Feeding difficulties	9/12	OMIM:620688
3183	HNRNPC	HP:0002360	Sleep abnormality	6/6	OMIM:620688
3183	HNRNPC	HP:0002342	Intellectual disability, moderate	2/2	OMIM:620688
3183	HNRNPC	HP:0000601	Hypotelorism	1/13	OMIM:620688
3183	HNRNPC	HP:0031987	Diminished ability to concentrate	5/13	OMIM:620688
3183	HNRNPC	HP:0031936	Delayed ability to walk	8/12	OMIM:620688
3183	HNRNPC	HP:0100034	Motor tics	2/12	OMIM:620688
3183	HNRNPC	HP:0000750	Delayed speech and language development	8/8	OMIM:620688
3183	HNRNPC	HP:0040082	Happy demeanor	7/12	OMIM:620688
3183	HNRNPC	HP:0000252	Microcephaly	3/13	OMIM:620688
3183	HNRNPC	HP:0000248	Brachycephaly	2/13	OMIM:620688
3183	HNRNPC	HP:0000219	Thin upper lip vermilion	10/13	OMIM:620688
3183	HNRNPC	HP:0002870	Obstructive sleep apnea	3/12	OMIM:620688
3183	HNRNPC	HP:0001511	Intrauterine growth retardation	1/12	OMIM:620688
3183	HNRNPC	HP:0000319	Smooth philtrum	6/13	OMIM:620688
3183	HNRNPC	HP:0000316	Hypertelorism	2/13	OMIM:620688
3183	HNRNPC	HP:0000311	Round face	2/13	OMIM:620688
3183	HNRNPC	HP:0011147	Typical absence seizure	1/13	OMIM:620688
3183	HNRNPC	HP:0000494	Downslanted palpebral fissures	2/13	OMIM:620688
3183	HNRNPC	HP:0000490	Deeply set eye	7/13	OMIM:620688
3183	HNRNPC	HP:0000448	Prominent nose	1/13	OMIM:620688
3187	HNRNPH1	HP:0001188	Hand clenching	1/7	OMIM:620083
3187	HNRNPH1	HP:0001166	Arachnodactyly	1/1	OMIM:620083
3187	HNRNPH1	HP:0010957	Congenital posterior urethral valve	1/7	OMIM:620083
3187	HNRNPH1	HP:0010864	Intellectual disability, severe	1/1	OMIM:620083
3187	HNRNPH1	HP:0001250	Seizure	2/7	OMIM:620083
3187	HNRNPH1	HP:0001252	Hypotonia	6/6	OMIM:620083
3187	HNRNPH1	HP:0001251	Ataxia	1/7	OMIM:620083
3187	HNRNPH1	HP:0001249	Intellectual disability	6/6	OMIM:620083
3187	HNRNPH1	HP:0001263	Global developmental delay	1/1	OMIM:620083
3187	HNRNPH1	HP:0002540	Inability to walk	3/7	OMIM:620083
3187	HNRNPH1	HP:0002553	Highly arched eyebrow	1/1	OMIM:620083
3187	HNRNPH1	HP:0000085	Horseshoe kidney	1/7	OMIM:620083
3187	HNRNPH1	HP:0001382	Joint hypermobility	3/7	OMIM:620083
3187	HNRNPH1	HP:0000047	Hypospadias	2/5	OMIM:620083
3187	HNRNPH1	HP:0002677	Small foramen magnum	2/8	OMIM:620083
3187	HNRNPH1	HP:0001357	Plagiocephaly	1/1	OMIM:620083
3187	HNRNPH1	HP:0000028	Cryptorchidism	2/5	OMIM:620083
3187	HNRNPH1	HP:0001332	Dystonia	2/7	OMIM:620083
3187	HNRNPH1	HP:0001344	Absent speech	2/5	OMIM:620083
3187	HNRNPH1	HP:0002673	Coxa valga	1/1	OMIM:620083
3187	HNRNPH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620083
3187	HNRNPH1	HP:0001320	Cerebellar vermis hypoplasia	1/1	OMIM:620083
3187	HNRNPH1	HP:0002650	Scoliosis	3/8	OMIM:620083
3187	HNRNPH1	HP:0004684	Talipes valgus	1/1	OMIM:620083
3187	HNRNPH1	HP:0002020	Gastroesophageal reflux	1/1	OMIM:620083
3187	HNRNPH1	HP:0002144	Tethered cord	1/7	OMIM:620083
3187	HNRNPH1	HP:0003577	Congenital onset	1/1	OMIM:620083
3187	HNRNPH1	HP:0100760	Clubbing of toes	1/1	OMIM:620083
3187	HNRNPH1	HP:0100759	Clubbing of fingers	1/1	OMIM:620083
3187	HNRNPH1	HP:0011968	Feeding difficulties	4/7	OMIM:620083
3187	HNRNPH1	HP:0004976	Knee dislocation	1/1	OMIM:620083
3187	HNRNPH1	HP:0004993	Slender long bones with narrow diaphyses	1/1	OMIM:620083
3187	HNRNPH1	HP:0010807	Open bite	1/1	OMIM:620083
3187	HNRNPH1	HP:0004209	Clinodactyly of the 5th finger	1/1	OMIM:620083
3187	HNRNPH1	HP:0000639	Nystagmus	1/7	OMIM:620083
3187	HNRNPH1	HP:0000678	Dental crowding	1/1	OMIM:620083
3187	HNRNPH1	HP:0004322	Short stature	5/6	OMIM:620083
3187	HNRNPH1	HP:0003048	Radial head subluxation	1/1	OMIM:620083
3187	HNRNPH1	HP:0003042	Elbow dislocation	1/1	OMIM:620083
3187	HNRNPH1	HP:0003016	Metaphyseal widening	1/1	OMIM:620083
3187	HNRNPH1	HP:0000768	Pectus carinatum	1/7	OMIM:620083
3187	HNRNPH1	HP:0003244	Penile hypospadias	1/1	OMIM:620083
3187	HNRNPH1	HP:0000938	Osteopenia	1/1	OMIM:620083
3187	HNRNPH1	HP:0000278	Retrognathia	1/1	OMIM:620083
3187	HNRNPH1	HP:0000276	Long face	1/1	OMIM:620083
3187	HNRNPH1	HP:0000272	Malar flattening	1/1	OMIM:620083
3187	HNRNPH1	HP:0002827	Hip dislocation	1/1	OMIM:620083
3187	HNRNPH1	HP:0000252	Microcephaly	1/1	OMIM:620083
3187	HNRNPH1	HP:0000218	High palate	1/1	OMIM:620083
3187	HNRNPH1	HP:0001508	Failure to thrive	1/1	OMIM:620083
3187	HNRNPH1	HP:0030048	Colpocephaly	1/1	OMIM:620083
3187	HNRNPH1	HP:0000385	Small earlobe	1/1	OMIM:620083
3187	HNRNPH1	HP:0000369	Low-set ears	1/1	OMIM:620083
3187	HNRNPH1	HP:0000348	High forehead	1/1	OMIM:620083
3187	HNRNPH1	HP:0000303	Mandibular prognathia	1/7	OMIM:620083
3187	HNRNPH1	HP:0000486	Strabismus	4/7	OMIM:620083
3187	HNRNPH1	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:620083
3187	HNRNPH1	HP:0000418	Narrow nasal ridge	1/1	OMIM:620083
3187	HNRNPH1	HP:0000581	Blepharophimosis	1/1	OMIM:620083
3187	HNRNPH1	HP:0000543	Optic disc pallor	1/7	OMIM:620083
3188	HNRNPH2	HP:0001166	Arachnodactyly	1/6	OMIM:300986
3188	HNRNPH2	HP:0001276	Hypertonia	1/6	OMIM:300986
3188	HNRNPH2	HP:0001288	Gait disturbance	1/6	OMIM:300986
3188	HNRNPH2	HP:0001250	Seizure	3/6	OMIM:300986
3188	HNRNPH2	HP:0001252	Hypotonia	6/6	OMIM:300986
3188	HNRNPH2	HP:0001251	Ataxia	1/6	OMIM:300986
3188	HNRNPH2	HP:0001249	Intellectual disability	6/6	OMIM:300986
3188	HNRNPH2	HP:0001263	Global developmental delay	6/6	OMIM:300986
3188	HNRNPH2	HP:0001212	Prominent fingertip pads	1/6	OMIM:300986
3188	HNRNPH2	HP:0001382	Joint hypermobility	1/6	OMIM:300986
3188	HNRNPH2	HP:0001344	Absent speech	1/6	OMIM:300986
3188	HNRNPH2	HP:0002650	Scoliosis	1/6	OMIM:300986
3188	HNRNPH2	HP:0001321	Cerebellar hypoplasia	1/5	OMIM:300986
3188	HNRNPH2	HP:0000154	Wide mouth	1/6	OMIM:300986
3188	HNRNPH2	HP:0001423	X-linked dominant inheritance	-	OMIM:300986
3188	HNRNPH2	HP:0002020	Gastroesophageal reflux	2/6	OMIM:300986
3188	HNRNPH2	HP:0003307	Hyperlordosis	1/6	OMIM:300986
3188	HNRNPH2	HP:0011800	Midface retrusion	1/6	OMIM:300986
3188	HNRNPH2	HP:0003593	Infantile onset	-	OMIM:300986
3188	HNRNPH2	HP:0100716	Self-injurious behavior	1/6	OMIM:300986
3188	HNRNPH2	HP:0002212	Curly hair	1/6	OMIM:300986
3188	HNRNPH2	HP:0007018	Attention deficit hyperactivity disorder	2/6	OMIM:300986
3188	HNRNPH2	HP:0011968	Feeding difficulties	2/6	OMIM:300986
3188	HNRNPH2	HP:0002376	Developmental regression	3/6	OMIM:300986
3188	HNRNPH2	HP:0009765	Low hanging columella	3/6	OMIM:300986
3188	HNRNPH2	HP:0002307	Drooling	1/6	OMIM:300986
3188	HNRNPH2	HP:0000601	Hypotelorism	1/6	OMIM:300986
3188	HNRNPH2	HP:0004322	Short stature	2/6	OMIM:300986
3188	HNRNPH2	HP:0012745	Short palpebral fissure	1/6	OMIM:300986
3188	HNRNPH2	HP:0100024	Conspicuously happy disposition	1/6	OMIM:300986
3188	HNRNPH2	HP:0100023	Recurrent hand flapping	1/6	OMIM:300986
3188	HNRNPH2	HP:0000768	Pectus carinatum	1/6	OMIM:300986
3188	HNRNPH2	HP:0000739	Anxiety	2/6	OMIM:300986
3188	HNRNPH2	HP:0000733	Motor stereotypy	1/6	OMIM:300986
3188	HNRNPH2	HP:0000718	Aggressive behavior	1/6	OMIM:300986
3188	HNRNPH2	HP:0000729	Autistic behavior	3/6	OMIM:300986
3188	HNRNPH2	HP:0000722	Compulsive behaviors	1/6	OMIM:300986
3188	HNRNPH2	HP:0000286	Epicanthus	1/6	OMIM:300986
3188	HNRNPH2	HP:0000218	High palate	2/6	OMIM:300986
3188	HNRNPH2	HP:0001508	Failure to thrive	2/6	OMIM:300986
3188	HNRNPH2	HP:0007874	Almond-shaped palpebral fissure	1/6	OMIM:300986
3188	HNRNPH2	HP:0000347	Micrognathia	1/6	OMIM:300986
3188	HNRNPH2	HP:0000316	Hypertelorism	1/6	OMIM:300986
3188	HNRNPH2	HP:0000322	Short philtrum	3/6	OMIM:300986
3188	HNRNPH2	HP:0001631	Atrial septal defect	1/6	OMIM:300986
3188	HNRNPH2	HP:0001634	Mitral valve prolapse	2/6	OMIM:300986
3188	HNRNPH2	HP:0012471	Thick vermilion border	1/6	OMIM:300986
3188	HNRNPH2	HP:0012450	Chronic constipation	1/6	OMIM:300986
3188	HNRNPH2	HP:0001763	Pes planus	2/6	OMIM:300986
3188	HNRNPH2	HP:0000430	Underdeveloped nasal alae	3/6	OMIM:300986
3188	HNRNPH2	HP:0005484	Secondary microcephaly	2/6	OMIM:300986
3188	HNRNPH2	HP:0000577	Exotropia	1/5	OMIM:300986
3190	HNRNPK	HP:0002465	Poor speech	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0002465	Poor speech	-	OMIM:616580
3190	HNRNPK	HP:0002465	Poor speech	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0010946	Dilatation of the renal pelvis	1/2	OMIM:616580
3190	HNRNPK	HP:0001195	Single umbilical artery	1/2	OMIM:616580
3190	HNRNPK	HP:0010880	Increased nuchal translucency	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0010880	Increased nuchal translucency	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0008551	Microtia	-	OMIM:616580
3190	HNRNPK	HP:0003763	Bruxism	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0003763	Bruxism	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0001284	Areflexia	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0001284	Areflexia	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0001250	Seizure	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0001250	Seizure	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0001252	Hypotonia	1/2	OMIM:616580
3190	HNRNPK	HP:0001252	Hypotonia	HP:0040281	ORPHA:453504
3190	HNRNPK	HP:0001252	Hypotonia	HP:0040281	ORPHA:352665
3190	HNRNPK	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0001249	Intellectual disability	-	OMIM:616580
3190	HNRNPK	HP:0002578	Gastroparesis	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0002578	Gastroparesis	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0001263	Global developmental delay	2/2	OMIM:616580
3190	HNRNPK	HP:0002558	Supernumerary nipple	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0002558	Supernumerary nipple	1/2	OMIM:616580
3190	HNRNPK	HP:0002558	Supernumerary nipple	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0002572	Episodic vomiting	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0002572	Episodic vomiting	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0002540	Inability to walk	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0002540	Inability to walk	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0000076	Vesicoureteral reflux	1/2	OMIM:616580
3190	HNRNPK	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0001385	Hip dysplasia	1/2	OMIM:616580
3190	HNRNPK	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0001363	Craniosynostosis	-	OMIM:616580
3190	HNRNPK	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0001357	Plagiocephaly	1/2	OMIM:616580
3190	HNRNPK	HP:0000028	Cryptorchidism	2/2	OMIM:616580
3190	HNRNPK	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0006191	Deep palmar crease	-	OMIM:616580
3190	HNRNPK	HP:0001324	Muscle weakness	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0001324	Muscle weakness	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0001344	Absent speech	1/2	OMIM:616580
3190	HNRNPK	HP:0002673	Coxa valga	1/2	OMIM:616580
3190	HNRNPK	HP:0000006	Autosomal dominant inheritance	-	OMIM:616580
3190	HNRNPK	HP:0002650	Scoliosis	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0002650	Scoliosis	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0002616	Aortic root aneurysm	1/2	OMIM:616580
3190	HNRNPK	HP:0025480	Lipomyelomeningocele	1/2	OMIM:616580
3190	HNRNPK	HP:0000194	Open mouth	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0000194	Open mouth	1/2	OMIM:616580
3190	HNRNPK	HP:0000194	Open mouth	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0000193	Bifid uvula	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000193	Bifid uvula	1/2	OMIM:616580
3190	HNRNPK	HP:0000193	Bifid uvula	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000158	Macroglossia	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0000158	Macroglossia	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0000175	Cleft palate	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000175	Cleft palate	-	OMIM:616580
3190	HNRNPK	HP:0000175	Cleft palate	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0007655	Eversion of lateral third of lower eyelids	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0007655	Eversion of lateral third of lower eyelids	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0002705	High, narrow palate	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0002705	High, narrow palate	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0000126	Hydronephrosis	1/2	OMIM:616580
3190	HNRNPK	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0002714	Downturned corners of mouth	-	OMIM:616580
3190	HNRNPK	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0002711	Exaggerated median tongue furrow	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0002711	Exaggerated median tongue furrow	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0002020	Gastroesophageal reflux	1/2	OMIM:616580
3190	HNRNPK	HP:0002019	Constipation	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0002019	Constipation	-	OMIM:616580
3190	HNRNPK	HP:0002019	Constipation	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0011807	Type 1 muscle fiber atrophy	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0011807	Type 1 muscle fiber atrophy	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0003396	Syringomyelia	1/2	OMIM:616580
3190	HNRNPK	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0002046	Heat intolerance	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0002046	Heat intolerance	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0003388	Easy fatigability	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0003388	Easy fatigability	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0002119	Ventriculomegaly	1/2	OMIM:616580
3190	HNRNPK	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0003422	Vertebral segmentation defect	2/2	OMIM:616580
3190	HNRNPK	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0002263	Exaggerated cupid's bow	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0002263	Exaggerated cupid's bow	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0002282	Gray matter heterotopia	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0002282	Gray matter heterotopia	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0007018	Attention deficit hyperactivity disorder	1/2	OMIM:616580
3190	HNRNPK	HP:0011968	Feeding difficulties	2/2	OMIM:616580
3190	HNRNPK	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0010807	Open bite	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0010807	Open bite	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0009794	Branchial anomaly	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0009794	Branchial anomaly	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0004209	Clinodactyly of the 5th finger	1/2	OMIM:616580
3190	HNRNPK	HP:0012622	Chronic kidney disease	1/2	OMIM:616580
3190	HNRNPK	HP:0000637	Long palpebral fissure	HP:0040281	ORPHA:453504
3190	HNRNPK	HP:0000637	Long palpebral fissure	1/2	OMIM:616580
3190	HNRNPK	HP:0000637	Long palpebral fissure	HP:0040281	ORPHA:352665
3190	HNRNPK	HP:0001954	Recurrent fever	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0001954	Recurrent fever	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000677	Oligodontia	-	OMIM:616580
3190	HNRNPK	HP:0011330	Metopic synostosis	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0011330	Metopic synostosis	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0000689	Dental malocclusion	1/2	OMIM:616580
3190	HNRNPK	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0030674	Antenatal onset	2/2	OMIM:616580
3190	HNRNPK	HP:0004389	Intestinal pseudo-obstruction	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0004389	Intestinal pseudo-obstruction	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0000767	Pectus excavatum	1/2	OMIM:616580
3190	HNRNPK	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0004443	Lambdoidal craniosynostosis	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0004443	Lambdoidal craniosynostosis	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0004442	Sagittal craniosynostosis	1/2	OMIM:616580
3190	HNRNPK	HP:0004442	Sagittal craniosynostosis	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0004442	Sagittal craniosynostosis	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0003196	Short nose	1/2	OMIM:616580
3190	HNRNPK	HP:0003186	Inverted nipples	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0003186	Inverted nipples	1/2	OMIM:616580
3190	HNRNPK	HP:0003186	Inverted nipples	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0004467	Preauricular pit	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0004467	Preauricular pit	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0012811	Wide nasal ridge	1/2	OMIM:616580
3190	HNRNPK	HP:0000822	Hypertension	1/2	OMIM:616580
3190	HNRNPK	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0010297	Bifid tongue	1/2	OMIM:616580
3190	HNRNPK	HP:0010297	Bifid tongue	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0010297	Bifid tongue	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:4000105	Abnormal four chamber view of the fetal heart	1/2	OMIM:616580
3190	HNRNPK	HP:0100259	Postaxial polydactyly	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0100259	Postaxial polydactyly	1/2	OMIM:616580
3190	HNRNPK	HP:0100259	Postaxial polydactyly	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000960	Sacral dimple	2/2	OMIM:616580
3190	HNRNPK	HP:0000938	Osteopenia	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000938	Osteopenia	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000280	Coarse facial features	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000280	Coarse facial features	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000278	Retrognathia	1/2	OMIM:616580
3190	HNRNPK	HP:0000276	Long face	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0000276	Long face	1/2	OMIM:616580
3190	HNRNPK	HP:0000276	Long face	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0000268	Dolichocephaly	-	OMIM:616580
3190	HNRNPK	HP:0000252	Microcephaly	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0000252	Microcephaly	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0001548	Overgrowth	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0001548	Overgrowth	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000218	High palate	1/2	OMIM:616580
3190	HNRNPK	HP:0002877	Nocturnal hypoventilation	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0002877	Nocturnal hypoventilation	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0030001	Lagophthalmos	1/2	OMIM:616580
3190	HNRNPK	HP:0001508	Failure to thrive	1/2	OMIM:616580
3190	HNRNPK	HP:0001510	Growth delay	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0001510	Growth delay	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0025671	Fetal pericardial effusion	1/2	OMIM:616580
3190	HNRNPK	HP:0002944	Thoracolumbar scoliosis	1/2	OMIM:616580
3190	HNRNPK	HP:0006481	Abnormality of primary teeth	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0006481	Abnormality of primary teeth	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000341	Narrow forehead	1/2	OMIM:616580
3190	HNRNPK	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0001623	Breech presentation	1/2	OMIM:616580
3190	HNRNPK	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0006610	Wide intermamillary distance	1/2	OMIM:616580
3190	HNRNPK	HP:0011147	Typical absence seizure	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0011147	Typical absence seizure	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0005338	Sparse lateral eyebrow	1/2	OMIM:616580
3190	HNRNPK	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:616580
3190	HNRNPK	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000476	Cystic hygroma	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000476	Cystic hygroma	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:616580
3190	HNRNPK	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0000456	Bifid nasal tip	1/2	OMIM:616580
3190	HNRNPK	HP:0000474	Thickened nuchal skin fold	2/2	OMIM:616580
3190	HNRNPK	HP:0001763	Pes planus	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0001763	Pes planus	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000411	Protruding ear	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000411	Protruding ear	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:453504
3190	HNRNPK	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:352665
3190	HNRNPK	HP:0000430	Underdeveloped nasal alae	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000430	Underdeveloped nasal alae	1/2	OMIM:616580
3190	HNRNPK	HP:0000430	Underdeveloped nasal alae	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000426	Prominent nasal bridge	1/2	OMIM:616580
3190	HNRNPK	HP:0005487	Prominent metopic ridge	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0005487	Prominent metopic ridge	1/2	OMIM:616580
3190	HNRNPK	HP:0005487	Prominent metopic ridge	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0001845	Overlapping toe	-	OMIM:616580
3190	HNRNPK	HP:0000508	Ptosis	-	OMIM:616580
3190	HNRNPK	HP:0000508	Ptosis	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000508	Ptosis	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000587	Abnormal optic nerve morphology	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000587	Abnormal optic nerve morphology	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000586	Shallow orbits	1/2	OMIM:616580
3190	HNRNPK	HP:0000586	Shallow orbits	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000586	Shallow orbits	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000589	Coloboma	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000589	Coloboma	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0000540	Hypermetropia	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000540	Hypermetropia	1/2	OMIM:616580
3190	HNRNPK	HP:0000540	Hypermetropia	HP:0040283	ORPHA:352665
3190	HNRNPK	HP:0001869	Deep plantar creases	-	OMIM:616580
3190	HNRNPK	HP:0000545	Myopia	HP:0040283	ORPHA:453504
3190	HNRNPK	HP:0000545	Myopia	HP:0040283	ORPHA:352665
3192	HNRNPU	HP:0007270	Atypical absence seizure	1/1	OMIM:617391
3192	HNRNPU	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:238769
3192	HNRNPU	HP:0001290	Generalized hypotonia	-	OMIM:617391
3192	HNRNPU	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:238769
3192	HNRNPU	HP:0001250	Seizure	-	OMIM:617391
3192	HNRNPU	HP:0001252	Hypotonia	HP:0040281	ORPHA:238769
3192	HNRNPU	HP:0001249	Intellectual disability	1/1	OMIM:617391
3192	HNRNPU	HP:0001263	Global developmental delay	1/1	OMIM:617391
3192	HNRNPU	HP:0001263	Global developmental delay	HP:0040281	ORPHA:238769
3192	HNRNPU	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:238769
3192	HNRNPU	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:238769
3192	HNRNPU	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:238769
3192	HNRNPU	HP:0001344	Absent speech	-	OMIM:617391
3192	HNRNPU	HP:0000006	Autosomal dominant inheritance	-	OMIM:617391
3192	HNRNPU	HP:0001336	Myoclonus	1/1	OMIM:617391
3192	HNRNPU	HP:0002650	Scoliosis	HP:0040283	ORPHA:238769
3192	HNRNPU	HP:0002007	Frontal bossing	HP:0040283	ORPHA:238769
3192	HNRNPU	HP:0002069	Bilateral tonic-clonic seizure	HP:0040281	ORPHA:238769
3192	HNRNPU	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:617391
3192	HNRNPU	HP:0002119	Ventriculomegaly	-	OMIM:617391
3192	HNRNPU	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:238769
3192	HNRNPU	HP:0002263	Exaggerated cupid's bow	HP:0040281	ORPHA:238769
3192	HNRNPU	HP:0003593	Infantile onset	1/1	OMIM:617391
3192	HNRNPU	HP:0200134	Epileptic encephalopathy	-	OMIM:617391
3192	HNRNPU	HP:0002376	Developmental regression	1/1	OMIM:617391
3192	HNRNPU	HP:0002353	EEG abnormality	1/1	OMIM:617391
3192	HNRNPU	HP:0010819	Atonic seizure	1/1	OMIM:617391
3192	HNRNPU	HP:0000664	Synophrys	HP:0040283	ORPHA:238769
3192	HNRNPU	HP:0004322	Short stature	HP:0040282	ORPHA:238769
3192	HNRNPU	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:238769
3192	HNRNPU	HP:0004422	Biparietal narrowing	HP:0040283	ORPHA:238769
3192	HNRNPU	HP:0000286	Epicanthus	HP:0040282	ORPHA:238769
3192	HNRNPU	HP:0007766	Optic disc hypoplasia	HP:0040283	ORPHA:238769
3192	HNRNPU	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:238769
3192	HNRNPU	HP:0000252	Microcephaly	-	OMIM:617391
3192	HNRNPU	HP:0000252	Microcephaly	HP:0040282	ORPHA:238769
3192	HNRNPU	HP:0000218	High palate	HP:0040283	ORPHA:238769
3192	HNRNPU	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:238769
3192	HNRNPU	HP:0001510	Growth delay	HP:0040282	ORPHA:238769
3192	HNRNPU	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:238769
3192	HNRNPU	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:238769
3192	HNRNPU	HP:0032792	Tonic seizure	1/1	OMIM:617391
3192	HNRNPU	HP:0000348	High forehead	HP:0040283	ORPHA:238769
3192	HNRNPU	HP:0000347	Micrognathia	HP:0040282	ORPHA:238769
3192	HNRNPU	HP:0000319	Smooth philtrum	HP:0040282	ORPHA:238769
3192	HNRNPU	HP:0000316	Hypertelorism	HP:0040282	ORPHA:238769
3192	HNRNPU	HP:0031475	Status epilepticus without prominent motor symptoms	1/1	OMIM:617391
3192	HNRNPU	HP:0000486	Strabismus	HP:0040282	ORPHA:238769
3192	HNRNPU	HP:0012448	Delayed myelination	-	OMIM:617391
3192	HNRNPU	HP:0005487	Prominent metopic ridge	HP:0040283	ORPHA:238769
3192	HNRNPU	HP:0000506	Telecanthus	HP:0040282	ORPHA:238769
3192	HNRNPU	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:238769
3198	HOXA1	HP:0009921	Duane anomaly	-	OMIM:601536
3198	HOXA1	HP:0001250	Seizure	5/29	OMIM:601536
3198	HOXA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:601536
3198	HOXA1	HP:0002194	Delayed gross motor development	21/29	OMIM:601536
3198	HOXA1	HP:0007110	Central hypoventilation	11/29	OMIM:601536
3198	HOXA1	HP:0007817	Horizontal supranuclear gaze palsy	-	OMIM:601536
3198	HOXA1	HP:0000407	Sensorineural hearing impairment	26/29	OMIM:601536
3198	HOXA1	HP:0005290	Internal carotid artery hypoplasia	3/4	OMIM:601536
3199	HOXA2	HP:0008589	Hypoplastic helices	HP:0040282	ORPHA:83463
3199	HOXA2	HP:0009892	Anotia	HP:0040282	ORPHA:83463
3199	HOXA2	HP:0008551	Microtia	HP:0040280	ORPHA:83463
3199	HOXA2	HP:0008551	Microtia	6/6	OMIM:612290
3199	HOXA2	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:83463
3199	HOXA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:612290
3199	HOXA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:612290
3199	HOXA2	HP:0000175	Cleft palate	3/6	OMIM:612290
3199	HOXA2	HP:0031229	Increased incisura length	3/3	OMIM:612290
3199	HOXA2	HP:0003577	Congenital onset	3/3	OMIM:612290
3199	HOXA2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:83463
3199	HOXA2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:83463
3199	HOXA2	HP:0040119	Unilateral conductive hearing impairment	HP:0040281	ORPHA:83463
3199	HOXA2	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:83463
3199	HOXA2	HP:0000396	Overfolded helix	3/3	OMIM:612290
3199	HOXA2	HP:0000402	Stenosis of the external auditory canal	3/6	OMIM:612290
3199	HOXA2	HP:0000410	Mixed hearing impairment	3/3	OMIM:612290
3199	HOXA2	HP:0000413	Atresia of the external auditory canal	HP:0040282	ORPHA:83463
3207	HOXA11	HP:0001159	Syndactyly	-	OMIM:605432
3207	HOXA11	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3207	HOXA11	HP:0001293	Cranial nerve compression	-	OMIM:131300
3207	HOXA11	HP:0001252	Hypotonia	2/7	OMIM:615777
3207	HOXA11	HP:0001249	Intellectual disability	5/7	OMIM:615777
3207	HOXA11	HP:0001263	Global developmental delay	-	OMIM:615777
3207	HOXA11	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:71289
3207	HOXA11	HP:0002515	Waddling gait	54/102	OMIM:131300
3207	HOXA11	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:71289
3207	HOXA11	HP:0001382	Joint hypermobility	-	OMIM:615777
3207	HOXA11	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3207	HOXA11	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3207	HOXA11	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3207	HOXA11	HP:0001324	Muscle weakness	40/96	OMIM:131300
3207	HOXA11	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3207	HOXA11	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3207	HOXA11	HP:0000006	Autosomal dominant inheritance	-	OMIM:605432
3207	HOXA11	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3207	HOXA11	HP:0002650	Scoliosis	12/14	OMIM:131300
3207	HOXA11	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3207	HOXA11	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3207	HOXA11	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3207	HOXA11	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3207	HOXA11	HP:0000175	Cleft palate	2/7	OMIM:615777
3207	HOXA11	HP:0003388	Easy fatigability	36/76	OMIM:131300
3207	HOXA11	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3207	HOXA11	HP:0004859	Amegakaryocytic thrombocytopenia	HP:0040282	ORPHA:71289
3207	HOXA11	HP:0004859	Amegakaryocytic thrombocytopenia	-	OMIM:605432
3207	HOXA11	HP:0003510	Severe short stature	7/7	OMIM:615777
3207	HOXA11	HP:0002315	Headache	-	OMIM:131300
3207	HOXA11	HP:0004976	Knee dislocation	6/7	OMIM:615777
3207	HOXA11	HP:0009803	Short phalanx of finger	-	OMIM:615777
3207	HOXA11	HP:0009763	Limb pain	63/92	OMIM:131300
3207	HOXA11	HP:0003621	Juvenile onset	-	OMIM:131300
3207	HOXA11	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3207	HOXA11	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:71289
3207	HOXA11	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:605432
3207	HOXA11	HP:0005548	Megakaryocytopenia	-	OMIM:605432
3207	HOXA11	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3207	HOXA11	HP:6001056	Out-toeing	-	OMIM:131300
3207	HOXA11	HP:0000651	Diplopia	-	OMIM:131300
3207	HOXA11	HP:0001956	Truncal obesity	2/7	OMIM:615777
3207	HOXA11	HP:0001903	Anemia	HP:0040283	OMIM:131300
3207	HOXA11	HP:0001905	Congenital thrombocytopenia	-	OMIM:605432
3207	HOXA11	HP:0001915	Aplastic anemia	-	OMIM:605432
3207	HOXA11	HP:0010049	Short metacarpal	-	OMIM:615777
3207	HOXA11	HP:0000678	Dental crowding	-	OMIM:615777
3207	HOXA11	HP:0000670	Carious teeth	-	OMIM:131300
3207	HOXA11	HP:0011304	Broad thumb	2/7	OMIM:615777
3207	HOXA11	HP:0000668	Hypodontia	-	OMIM:615777
3207	HOXA11	HP:0000664	Synophrys	-	OMIM:615777
3207	HOXA11	HP:0004396	Poor appetite	-	OMIM:131300
3207	HOXA11	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3207	HOXA11	HP:0003031	Ulnar bowing	-	OMIM:605432
3207	HOXA11	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3207	HOXA11	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3207	HOXA11	HP:0003026	Short long bone	7/7	OMIM:615777
3207	HOXA11	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3207	HOXA11	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3207	HOXA11	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3207	HOXA11	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3207	HOXA11	HP:0000750	Delayed speech and language development	-	OMIM:615777
3207	HOXA11	HP:0011461	Fetal onset	7/7	OMIM:615777
3207	HOXA11	HP:0000774	Narrow chest	2/7	OMIM:615777
3207	HOXA11	HP:0000926	Platyspondyly	1/7	OMIM:615777
3207	HOXA11	HP:0003182	Shallow acetabular fossae	-	OMIM:605432
3207	HOXA11	HP:0003180	Flat acetabular roof	-	OMIM:615777
3207	HOXA11	HP:0004482	Relative macrocephaly	-	OMIM:615777
3207	HOXA11	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3207	HOXA11	HP:0000823	Delayed puberty	-	OMIM:131300
3207	HOXA11	HP:0000894	Short clavicles	-	OMIM:615777
3207	HOXA11	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3207	HOXA11	HP:0000979	Purpura	-	OMIM:605432
3207	HOXA11	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3207	HOXA11	HP:0000967	Petechiae	-	OMIM:605432
3207	HOXA11	HP:0000286	Epicanthus	1/7	OMIM:615777
3207	HOXA11	HP:0000280	Coarse facial features	2/7	OMIM:615777
3207	HOXA11	HP:0002827	Hip dislocation	3/7	OMIM:615777
3207	HOXA11	HP:0002827	Hip dislocation	-	OMIM:605432
3207	HOXA11	HP:0006394	Limited pronation/supination of forearm	-	OMIM:605432
3207	HOXA11	HP:0005037	Proximal radio-ulnar synostosis	-	OMIM:605432
3207	HOXA11	HP:0000252	Microcephaly	-	OMIM:615777
3207	HOXA11	HP:0002857	Genu valgum	-	OMIM:131300
3207	HOXA11	HP:0001533	Slender build	-	OMIM:131300
3207	HOXA11	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3207	HOXA11	HP:0007807	Optic nerve compression	-	OMIM:131300
3207	HOXA11	HP:0012368	Flat face	7/7	OMIM:615777
3207	HOXA11	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3207	HOXA11	HP:0000365	Hearing impairment	10/67	OMIM:131300
3207	HOXA11	HP:0000343	Long philtrum	1/7	OMIM:615777
3207	HOXA11	HP:0011001	Increased bone mineral density	-	OMIM:131300
3207	HOXA11	HP:0000311	Round face	2/7	OMIM:615777
3207	HOXA11	HP:0002974	Radioulnar synostosis	HP:0040281	ORPHA:71289
3207	HOXA11	HP:0002986	Radial bowing	-	OMIM:605432
3207	HOXA11	HP:0002970	Genu varum	-	OMIM:615777
3207	HOXA11	HP:0000303	Mandibular prognathia	-	OMIM:131300
3207	HOXA11	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:71289
3207	HOXA11	HP:0000407	Sensorineural hearing impairment	-	OMIM:605432
3207	HOXA11	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3207	HOXA11	HP:0000470	Short neck	1/7	OMIM:615777
3207	HOXA11	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3207	HOXA11	HP:0001763	Pes planus	1/7	OMIM:615777
3207	HOXA11	HP:0001840	Metatarsus adductus	-	OMIM:615777
3207	HOXA11	HP:0000520	Proptosis	2/4	OMIM:131300
3207	HOXA11	HP:0000520	Proptosis	7/7	OMIM:615777
3207	HOXA11	HP:0000592	Blue sclerae	2/7	OMIM:615777
3207	HOXA11	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3207	HOXA11	HP:0012514	Lower limb pain	4/4	OMIM:131300
3208	HPCA	HP:0002451	Limb dystonia	HP:0040282	ORPHA:99657
3208	HPCA	HP:0007325	Generalized dystonia	HP:0040283	ORPHA:99657
3208	HPCA	HP:0001288	Gait disturbance	HP:0040282	ORPHA:99657
3208	HPCA	HP:0001260	Dysarthria	HP:0040282	ORPHA:99657
3208	HPCA	HP:0001260	Dysarthria	3/4	OMIM:224500
3208	HPCA	HP:0000007	Autosomal recessive inheritance	-	OMIM:224500
3208	HPCA	HP:0001337	Tremor	HP:0040282	ORPHA:99657
3208	HPCA	HP:0001337	Tremor	-	OMIM:224500
3208	HPCA	HP:0001304	Torsion dystonia	4/4	OMIM:224500
3208	HPCA	HP:0001304	Torsion dystonia	HP:0040281	ORPHA:99657
3208	HPCA	HP:0002015	Dysphagia	2/4	OMIM:224500
3208	HPCA	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:99657
3208	HPCA	HP:0003677	Slowly progressive	-	OMIM:224500
3208	HPCA	HP:0003621	Juvenile onset	4/4	OMIM:224500
3208	HPCA	HP:0000643	Blepharospasm	HP:0040282	ORPHA:99657
3208	HPCA	HP:0000643	Blepharospasm	2/4	OMIM:224500
3208	HPCA	HP:0004305	Involuntary movements	HP:0040282	ORPHA:99657
3208	HPCA	HP:0000473	Torticollis	HP:0040282	ORPHA:99657
3208	HPCA	HP:0000473	Torticollis	3/4	OMIM:224500
3209	HOXA13	HP:0001156	Brachydactyly	-	OMIM:140000
3209	HOXA13	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:2438
3209	HOXA13	HP:0001162	Postaxial hand polydactyly	3/3	OMIM:176305
3209	HOXA13	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:2438
3209	HOXA13	HP:0008551	Microtia	HP:0040283	ORPHA:2438
3209	HOXA13	HP:0003762	Uterus didelphys	-	OMIM:140000
3209	HOXA13	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3209	HOXA13	HP:0001293	Cranial nerve compression	-	OMIM:131300
3209	HOXA13	HP:0001252	Hypotonia	2/7	OMIM:615777
3209	HOXA13	HP:0001249	Intellectual disability	5/7	OMIM:615777
3209	HOXA13	HP:0001263	Global developmental delay	-	OMIM:615777
3209	HOXA13	HP:0001245	Small thenar eminence	-	OMIM:140000
3209	HOXA13	HP:0006110	Shortening of all middle phalanges of the fingers	-	OMIM:140000
3209	HOXA13	HP:0006110	Shortening of all middle phalanges of the fingers	HP:0040281	ORPHA:2438
3209	HOXA13	HP:0008740	Longitudinal vaginal septum	-	OMIM:140000
3209	HOXA13	HP:0001216	Delayed ossification of carpal bones	-	OMIM:140000
3209	HOXA13	HP:0002515	Waddling gait	54/102	OMIM:131300
3209	HOXA13	HP:0000083	Renal insufficiency	-	OMIM:140000
3209	HOXA13	HP:0000076	Vesicoureteral reflux	-	OMIM:140000
3209	HOXA13	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2438
3209	HOXA13	HP:0000074	Ureteropelvic junction obstruction	-	OMIM:140000
3209	HOXA13	HP:0000074	Ureteropelvic junction obstruction	HP:0040281	ORPHA:2438
3209	HOXA13	HP:0000041	Chordee	-	OMIM:140000
3209	HOXA13	HP:0000054	Micropenis	-	OMIM:140000
3209	HOXA13	HP:0001382	Joint hypermobility	-	OMIM:615777
3209	HOXA13	HP:0000048	Bifid scrotum	-	OMIM:140000
3209	HOXA13	HP:0000047	Hypospadias	-	OMIM:140000
3209	HOXA13	HP:0000047	Hypospadias	HP:0040282	ORPHA:2438
3209	HOXA13	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3209	HOXA13	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3209	HOXA13	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:2438
3209	HOXA13	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3209	HOXA13	HP:0001324	Muscle weakness	40/96	OMIM:131300
3209	HOXA13	HP:0000010	Recurrent urinary tract infections	HP:0040282	ORPHA:2438
3209	HOXA13	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3209	HOXA13	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3209	HOXA13	HP:0000006	Autosomal dominant inheritance	-	OMIM:140000
3209	HOXA13	HP:0000006	Autosomal dominant inheritance	-	OMIM:176305
3209	HOXA13	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3209	HOXA13	HP:0002650	Scoliosis	12/14	OMIM:131300
3209	HOXA13	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3209	HOXA13	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3209	HOXA13	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3209	HOXA13	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3209	HOXA13	HP:0000175	Cleft palate	2/7	OMIM:615777
3209	HOXA13	HP:0000130	Abnormality of the uterus	HP:0040281	ORPHA:2438
3209	HOXA13	HP:0003388	Easy fatigability	36/76	OMIM:131300
3209	HOXA13	HP:0009464	Ulnar deviation of the 2nd finger	-	OMIM:140000
3209	HOXA13	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3209	HOXA13	HP:0008103	Delayed tarsal ossification	-	OMIM:140000
3209	HOXA13	HP:0011937	Hypoplastic fifth toenail	HP:0040282	ORPHA:2438
3209	HOXA13	HP:0009623	Proximal placement of thumb	-	OMIM:140000
3209	HOXA13	HP:0009623	Proximal placement of thumb	HP:0040281	ORPHA:2438
3209	HOXA13	HP:0010584	Pseudoepiphyses	-	OMIM:140000
3209	HOXA13	HP:0003510	Severe short stature	7/7	OMIM:615777
3209	HOXA13	HP:0002315	Headache	-	OMIM:131300
3209	HOXA13	HP:0004976	Knee dislocation	6/7	OMIM:615777
3209	HOXA13	HP:0009803	Short phalanx of finger	-	OMIM:615777
3209	HOXA13	HP:0009778	Short thumb	HP:0040281	ORPHA:2438
3209	HOXA13	HP:0009778	Short thumb	3/3	OMIM:176305
3209	HOXA13	HP:0009763	Limb pain	63/92	OMIM:131300
3209	HOXA13	HP:0003621	Juvenile onset	-	OMIM:131300
3209	HOXA13	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3209	HOXA13	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:140000
3209	HOXA13	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:2438
3209	HOXA13	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3209	HOXA13	HP:6001056	Out-toeing	-	OMIM:131300
3209	HOXA13	HP:0000651	Diplopia	-	OMIM:131300
3209	HOXA13	HP:0001956	Truncal obesity	2/7	OMIM:615777
3209	HOXA13	HP:0001903	Anemia	HP:0040283	OMIM:131300
3209	HOXA13	HP:0010049	Short metacarpal	-	OMIM:615777
3209	HOXA13	HP:0010034	Short 1st metacarpal	-	OMIM:140000
3209	HOXA13	HP:0010034	Short 1st metacarpal	HP:0040281	ORPHA:2438
3209	HOXA13	HP:0000678	Dental crowding	-	OMIM:615777
3209	HOXA13	HP:0000670	Carious teeth	-	OMIM:131300
3209	HOXA13	HP:0011304	Broad thumb	2/7	OMIM:615777
3209	HOXA13	HP:0000668	Hypodontia	-	OMIM:615777
3209	HOXA13	HP:0000664	Synophrys	-	OMIM:615777
3209	HOXA13	HP:0000807	Glanular hypospadias	2/2	OMIM:176305
3209	HOXA13	HP:0004396	Poor appetite	-	OMIM:131300
3209	HOXA13	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3209	HOXA13	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3209	HOXA13	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3209	HOXA13	HP:0003026	Short long bone	7/7	OMIM:615777
3209	HOXA13	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3209	HOXA13	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3209	HOXA13	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3209	HOXA13	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3209	HOXA13	HP:0000750	Delayed speech and language development	-	OMIM:615777
3209	HOXA13	HP:0011461	Fetal onset	7/7	OMIM:615777
3209	HOXA13	HP:0000795	Abnormality of the urethra	HP:0040282	ORPHA:2438
3209	HOXA13	HP:0010109	Short hallux	-	OMIM:140000
3209	HOXA13	HP:0010109	Short hallux	HP:0040281	ORPHA:2438
3209	HOXA13	HP:0010105	Short first metatarsal	-	OMIM:140000
3209	HOXA13	HP:0010105	Short first metatarsal	HP:0040281	ORPHA:2438
3209	HOXA13	HP:0000774	Narrow chest	2/7	OMIM:615777
3209	HOXA13	HP:0000926	Platyspondyly	1/7	OMIM:615777
3209	HOXA13	HP:0003180	Flat acetabular roof	-	OMIM:615777
3209	HOXA13	HP:0004482	Relative macrocephaly	-	OMIM:615777
3209	HOXA13	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3209	HOXA13	HP:0000813	Bicornuate uterus	HP:0040281	ORPHA:2438
3209	HOXA13	HP:0000823	Delayed puberty	-	OMIM:131300
3209	HOXA13	HP:0000894	Short clavicles	-	OMIM:615777
3209	HOXA13	HP:0009237	Short 5th finger	20/20	OMIM:140000
3209	HOXA13	HP:0009237	Short 5th finger	-	OMIM:176305
3209	HOXA13	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3209	HOXA13	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3209	HOXA13	HP:0000960	Sacral dimple	HP:0040283	ORPHA:2438
3209	HOXA13	HP:0008080	Hallux varus	-	OMIM:140000
3209	HOXA13	HP:0008080	Hallux varus	HP:0040282	ORPHA:2438
3209	HOXA13	HP:0000286	Epicanthus	1/7	OMIM:615777
3209	HOXA13	HP:0000280	Coarse facial features	2/7	OMIM:615777
3209	HOXA13	HP:0002827	Hip dislocation	3/7	OMIM:615777
3209	HOXA13	HP:0005048	Synostosis of carpal bones	HP:0040281	ORPHA:2438
3209	HOXA13	HP:0000252	Microcephaly	-	OMIM:615777
3209	HOXA13	HP:0002857	Genu valgum	-	OMIM:131300
3209	HOXA13	HP:0001533	Slender build	-	OMIM:131300
3209	HOXA13	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3209	HOXA13	HP:0007807	Optic nerve compression	-	OMIM:131300
3209	HOXA13	HP:0012368	Flat face	7/7	OMIM:615777
3209	HOXA13	HP:0005268	Miscarriage	HP:0040283	ORPHA:2438
3209	HOXA13	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3209	HOXA13	HP:0000365	Hearing impairment	10/67	OMIM:131300
3209	HOXA13	HP:0000343	Long philtrum	1/7	OMIM:615777
3209	HOXA13	HP:0012330	Pyelonephritis	-	OMIM:140000
3209	HOXA13	HP:0011001	Increased bone mineral density	-	OMIM:131300
3209	HOXA13	HP:0000311	Round face	2/7	OMIM:615777
3209	HOXA13	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:2438
3209	HOXA13	HP:0002970	Genu varum	-	OMIM:615777
3209	HOXA13	HP:0000303	Mandibular prognathia	-	OMIM:131300
3209	HOXA13	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3209	HOXA13	HP:0000486	Strabismus	HP:0040283	ORPHA:2438
3209	HOXA13	HP:0001792	Small nail	-	OMIM:140000
3209	HOXA13	HP:0000470	Short neck	1/7	OMIM:615777
3209	HOXA13	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3209	HOXA13	HP:0001763	Pes planus	1/7	OMIM:615777
3209	HOXA13	HP:0001840	Metatarsus adductus	-	OMIM:615777
3209	HOXA13	HP:0000520	Proptosis	2/4	OMIM:131300
3209	HOXA13	HP:0000520	Proptosis	7/7	OMIM:615777
3209	HOXA13	HP:0000592	Blue sclerae	2/7	OMIM:615777
3209	HOXA13	HP:0001885	Short 2nd toe	3/3	OMIM:176305
3209	HOXA13	HP:0001885	Short 2nd toe	-	OMIM:140000
3209	HOXA13	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3209	HOXA13	HP:0012514	Lower limb pain	4/4	OMIM:131300
3211	HOXB1	HP:0001260	Dysarthria	-	OMIM:614744
3211	HOXB1	HP:0025312	Esophoria	HP:0040283	OMIM:614744
3211	HOXB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614744
3211	HOXB1	HP:0000194	Open mouth	2/2	OMIM:614744
3211	HOXB1	HP:0007687	Unilateral ptosis	1/1	OMIM:614744
3211	HOXB1	HP:0002714	Downturned corners of mouth	1/1	OMIM:614744
3211	HOXB1	HP:0002015	Dysphagia	-	OMIM:614744
3211	HOXB1	HP:0011800	Midface retrusion	3/3	OMIM:614744
3211	HOXB1	HP:0002058	Myopathic facies	-	OMIM:614744
3211	HOXB1	HP:0003577	Congenital onset	3/3	OMIM:614744
3211	HOXB1	HP:0011968	Feeding difficulties	2/2	OMIM:614744
3211	HOXB1	HP:0010628	Facial palsy	3/3	OMIM:614744
3211	HOXB1	HP:0003680	Nonprogressive	-	OMIM:614744
3211	HOXB1	HP:0010804	Tented upper lip vermilion	1/1	OMIM:614744
3211	HOXB1	HP:0000750	Delayed speech and language development	-	OMIM:614744
3211	HOXB1	HP:0003196	Short nose	1/1	OMIM:614744
3211	HOXB1	HP:0000286	Epicanthus	1/2	OMIM:614744
3211	HOXB1	HP:0000218	High palate	1/1	OMIM:614744
3211	HOXB1	HP:0030001	Lagophthalmos	3/3	OMIM:614744
3211	HOXB1	HP:0005216	Impaired mastication	2/2	OMIM:614744
3211	HOXB1	HP:0000358	Posteriorly rotated ears	2/2	OMIM:614744
3211	HOXB1	HP:0000369	Low-set ears	3/3	OMIM:614744
3211	HOXB1	HP:0000337	Broad forehead	1/2	OMIM:614744
3211	HOXB1	HP:0000347	Micrognathia	1/2	OMIM:614744
3211	HOXB1	HP:0000319	Smooth philtrum	2/2	OMIM:614744
3211	HOXB1	HP:0000322	Short philtrum	1/2	OMIM:614744
3211	HOXB1	HP:0000407	Sensorineural hearing impairment	-	OMIM:614744
3211	HOXB1	HP:0005280	Depressed nasal bridge	1/1	OMIM:614744
3211	HOXB1	HP:0000463	Anteverted nares	3/3	OMIM:614744
3211	HOXB1	HP:0000565	Esotropia	1/1	OMIM:614744
3229	HOXC13	HP:0032226	Abnormal sebaceous gland morphology	0/3	OMIM:614931
3229	HOXC13	HP:0500262	Atrichia	6/6	OMIM:614931
3229	HOXC13	HP:0000023	Inguinal hernia	2/6	OMIM:614931
3229	HOXC13	HP:0000007	Autosomal recessive inheritance	-	OMIM:614931
3229	HOXC13	HP:0000164	Abnormality of the dentition	0/6	OMIM:614931
3229	HOXC13	HP:0003577	Congenital onset	6/6	OMIM:614931
3229	HOXC13	HP:0002223	Absent eyebrow	1/1	OMIM:614931
3229	HOXC13	HP:0008404	Nail dystrophy	3/3	OMIM:614931
3229	HOXC13	HP:0002298	Absent hair	1/1	OMIM:614931
3229	HOXC13	HP:0012741	Unilateral cryptorchidism	2/5	OMIM:614931
3229	HOXC13	HP:0000707	Abnormality of the nervous system	0/3	OMIM:614931
3229	HOXC13	HP:0000924	Abnormality of the skeletal system	0/3	OMIM:614931
3229	HOXC13	HP:0040039	Onycholysis of fingernails	2/6	OMIM:614931
3229	HOXC13	HP:0000971	Abnormal sweat gland morphology	0/3	OMIM:614931
3229	HOXC13	HP:0000968	Ectodermal dysplasia	3/3	OMIM:614931
3229	HOXC13	HP:0008070	Sparse hair	-	OMIM:614931
3229	HOXC13	HP:0001598	Concave nail	-	OMIM:614931
3229	HOXC13	HP:0000478	Abnormality of the eye	0/3	OMIM:614931
3229	HOXC13	HP:0001792	Small nail	3/3	OMIM:614931
3229	HOXC13	HP:0000561	Absent eyelashes	4/4	OMIM:614931
3236	HOXD10	HP:0001369	Arthritis	-	OMIM:192950
3236	HOXD10	HP:0000006	Autosomal dominant inheritance	-	OMIM:192950
3236	HOXD10	HP:0008138	Equinus calcaneus	-	OMIM:192950
3236	HOXD10	HP:0001848	Calcaneovalgus deformity	-	OMIM:192950
3236	HOXD10	HP:0001838	Rocker bottom foot	-	OMIM:192950
3239	HOXD13	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:887
3239	HOXD13	HP:0001156	Brachydactyly	-	OMIM:610713
3239	HOXD13	HP:0001156	Brachydactyly	-	OMIM:113300
3239	HOXD13	HP:0001156	Brachydactyly	-	OMIM:186300
3239	HOXD13	HP:0001159	Syndactyly	-	OMIM:610713
3239	HOXD13	HP:0001195	Single umbilical artery	HP:0040283	ORPHA:887
3239	HOXD13	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:93387
3239	HOXD13	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:93406
3239	HOXD13	HP:0009882	Short distal phalanx of finger	-	OMIM:186300
3239	HOXD13	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3239	HOXD13	HP:0001293	Cranial nerve compression	-	OMIM:131300
3239	HOXD13	HP:0001252	Hypotonia	2/7	OMIM:615777
3239	HOXD13	HP:0001249	Intellectual disability	5/7	OMIM:615777
3239	HOXD13	HP:0001263	Global developmental delay	-	OMIM:615777
3239	HOXD13	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:887
3239	HOXD13	HP:0006101	Finger syndactyly	-	OMIM:186000
3239	HOXD13	HP:0006101	Finger syndactyly	-	OMIM:610713
3239	HOXD13	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:887
3239	HOXD13	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:887
3239	HOXD13	HP:0006042	Y-shaped metacarpals	-	OMIM:186000
3239	HOXD13	HP:0002515	Waddling gait	54/102	OMIM:131300
3239	HOXD13	HP:0006097	3-4 finger osseus syndactyly	HP:0040282	ORPHA:93406
3239	HOXD13	HP:0000086	Ectopic kidney	HP:0040282	ORPHA:887
3239	HOXD13	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:887
3239	HOXD13	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:93387
3239	HOXD13	HP:0001382	Joint hypermobility	-	OMIM:615777
3239	HOXD13	HP:0000048	Bifid scrotum	HP:0040283	ORPHA:887
3239	HOXD13	HP:0000047	Hypospadias	HP:0040283	ORPHA:887
3239	HOXD13	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3239	HOXD13	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:887
3239	HOXD13	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3239	HOXD13	HP:0008848	Moderately short stature	-	OMIM:113300
3239	HOXD13	HP:0006185	Enlarged proximal interphalangeal joints	-	OMIM:186300
3239	HOXD13	HP:0006159	Mesoaxial hand polydactyly	-	OMIM:186000
3239	HOXD13	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3239	HOXD13	HP:0001324	Muscle weakness	40/96	OMIM:131300
3239	HOXD13	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3239	HOXD13	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:887
3239	HOXD13	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3239	HOXD13	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:887
3239	HOXD13	HP:0000006	Autosomal dominant inheritance	-	OMIM:186000
3239	HOXD13	HP:0000006	Autosomal dominant inheritance	-	OMIM:113300
3239	HOXD13	HP:0000006	Autosomal dominant inheritance	-	OMIM:186300
3239	HOXD13	HP:0000006	Autosomal dominant inheritance	-	OMIM:113200
3239	HOXD13	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3239	HOXD13	HP:0002650	Scoliosis	12/14	OMIM:131300
3239	HOXD13	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3239	HOXD13	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3239	HOXD13	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3239	HOXD13	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3239	HOXD13	HP:0012165	Oligodactyly	-	OMIM:610713
3239	HOXD13	HP:0000175	Cleft palate	HP:0040283	ORPHA:887
3239	HOXD13	HP:0000175	Cleft palate	2/7	OMIM:615777
3239	HOXD13	HP:0002777	Tracheal stenosis	HP:0040281	ORPHA:887
3239	HOXD13	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:887
3239	HOXD13	HP:0001440	Metatarsal synostosis	HP:0040281	ORPHA:93406
3239	HOXD13	HP:0000104	Renal agenesis	HP:0040282	ORPHA:887
3239	HOXD13	HP:0002023	Anal atresia	HP:0040281	ORPHA:887
3239	HOXD13	HP:0004692	4-5 toe syndactyly	8/18	OMIM:186000
3239	HOXD13	HP:0004692	4-5 toe syndactyly	-	OMIM:186300
3239	HOXD13	HP:0004691	2-3 toe syndactyly	HP:0040282	ORPHA:93406
3239	HOXD13	HP:0002007	Frontal bossing	HP:0040283	ORPHA:93387
3239	HOXD13	HP:0002085	Occipital encephalocele	HP:0040283	ORPHA:887
3239	HOXD13	HP:0100560	Upper limb asymmetry	HP:0040283	ORPHA:93387
3239	HOXD13	HP:0003388	Easy fatigability	36/76	OMIM:131300
3239	HOXD13	HP:0009465	Ulnar deviation of finger	HP:0040281	ORPHA:93406
3239	HOXD13	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3239	HOXD13	HP:0009473	Joint contracture of the hand	-	OMIM:186300
3239	HOXD13	HP:0003422	Vertebral segmentation defect	HP:0040282	ORPHA:887
3239	HOXD13	HP:0011939	3-4 finger cutaneous syndactyly	5/20	OMIM:186000
3239	HOXD13	HP:0011927	Short digit	-	OMIM:610713
3239	HOXD13	HP:0100490	Camptodactyly of finger	-	OMIM:186300
3239	HOXD13	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:93406
3239	HOXD13	HP:0010554	Cutaneous finger syndactyly	-	OMIM:186300
3239	HOXD13	HP:0009577	Short middle phalanx of the 2nd finger	HP:0040281	ORPHA:93409
3239	HOXD13	HP:0004704	Short fifth metatarsal	HP:0040281	ORPHA:93409
3239	HOXD13	HP:0003577	Congenital onset	-	OMIM:186000
3239	HOXD13	HP:0009702	Carpal synostosis	-	OMIM:186300
3239	HOXD13	HP:0009701	Metacarpal synostosis	HP:0040281	ORPHA:93406
3239	HOXD13	HP:0009642	Broad distal phalanx of the thumb	-	OMIM:113200
3239	HOXD13	HP:0003510	Severe short stature	7/7	OMIM:615777
3239	HOXD13	HP:0001048	Cavernous hemangioma	HP:0040283	ORPHA:887
3239	HOXD13	HP:0001032	Absent distal interphalangeal creases	-	OMIM:186300
3239	HOXD13	HP:0002323	Anencephaly	HP:0040283	ORPHA:887
3239	HOXD13	HP:0002315	Headache	-	OMIM:131300
3239	HOXD13	HP:0004976	Knee dislocation	6/7	OMIM:615777
3239	HOXD13	HP:0009803	Short phalanx of finger	-	OMIM:610713
3239	HOXD13	HP:0009803	Short phalanx of finger	-	OMIM:615777
3239	HOXD13	HP:0009773	Symphalangism affecting the phalanges of the hand	HP:0040282	ORPHA:93409
3239	HOXD13	HP:0009779	3-4 toe syndactyly	-	OMIM:186300
3239	HOXD13	HP:0010743	Short metatarsal	HP:0040283	ORPHA:93387
3239	HOXD13	HP:0010743	Short metatarsal	-	OMIM:113300
3239	HOXD13	HP:0009763	Limb pain	63/92	OMIM:131300
3239	HOXD13	HP:0003621	Juvenile onset	-	OMIM:131300
3239	HOXD13	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3239	HOXD13	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:186000
3239	HOXD13	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:93406
3239	HOXD13	HP:0010077	Broad distal phalanx of the hallux	-	OMIM:113200
3239	HOXD13	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	HP:0040283	ORPHA:93387
3239	HOXD13	HP:0004220	Short middle phalanx of the 5th finger	-	OMIM:186000
3239	HOXD13	HP:0004220	Short middle phalanx of the 5th finger	HP:0040281	ORPHA:93409
3239	HOXD13	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3239	HOXD13	HP:6001056	Out-toeing	-	OMIM:131300
3239	HOXD13	HP:0000651	Diplopia	-	OMIM:131300
3239	HOXD13	HP:0001956	Truncal obesity	2/7	OMIM:615777
3239	HOXD13	HP:0001903	Anemia	HP:0040283	OMIM:131300
3239	HOXD13	HP:0010049	Short metacarpal	HP:0040281	ORPHA:93387
3239	HOXD13	HP:0010049	Short metacarpal	-	OMIM:615777
3239	HOXD13	HP:0010049	Short metacarpal	-	OMIM:113300
3239	HOXD13	HP:0010047	Short 5th metacarpal	HP:0040281	ORPHA:93409
3239	HOXD13	HP:0010055	Broad hallux	-	OMIM:186000
3239	HOXD13	HP:0000678	Dental crowding	-	OMIM:615777
3239	HOXD13	HP:0000670	Carious teeth	-	OMIM:131300
3239	HOXD13	HP:0011304	Broad thumb	2/7	OMIM:615777
3239	HOXD13	HP:0000668	Hypodontia	-	OMIM:615777
3239	HOXD13	HP:0000664	Synophrys	-	OMIM:615777
3239	HOXD13	HP:0004322	Short stature	HP:0040282	ORPHA:93387
3239	HOXD13	HP:0005627	Type D brachydactyly	-	OMIM:113200
3239	HOXD13	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:887
3239	HOXD13	HP:0004396	Poor appetite	-	OMIM:131300
3239	HOXD13	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3239	HOXD13	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3239	HOXD13	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3239	HOXD13	HP:0003026	Short long bone	7/7	OMIM:615777
3239	HOXD13	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3239	HOXD13	HP:0000772	Abnormal rib morphology	HP:0040283	ORPHA:887
3239	HOXD13	HP:0012732	Anorectal anomaly	HP:0040283	ORPHA:887
3239	HOXD13	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3239	HOXD13	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3239	HOXD13	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3239	HOXD13	HP:0000750	Delayed speech and language development	-	OMIM:615777
3239	HOXD13	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	-	OMIM:186000
3239	HOXD13	HP:0011461	Fetal onset	7/7	OMIM:615777
3239	HOXD13	HP:0000795	Abnormality of the urethra	HP:0040283	ORPHA:887
3239	HOXD13	HP:0000774	Narrow chest	2/7	OMIM:615777
3239	HOXD13	HP:0000776	Congenital diaphragmatic hernia	HP:0040282	ORPHA:887
3239	HOXD13	HP:0000926	Platyspondyly	1/7	OMIM:615777
3239	HOXD13	HP:0003180	Flat acetabular roof	-	OMIM:615777
3239	HOXD13	HP:0004482	Relative macrocephaly	-	OMIM:615777
3239	HOXD13	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3239	HOXD13	HP:0100335	Non-midline cleft of the upper lip	HP:0040283	ORPHA:887
3239	HOXD13	HP:0000823	Delayed puberty	-	OMIM:131300
3239	HOXD13	HP:0000894	Short clavicles	-	OMIM:615777
3239	HOXD13	HP:0000894	Short clavicles	-	OMIM:113300
3239	HOXD13	HP:0005867	4-5 metacarpal synostosis	-	OMIM:186300
3239	HOXD13	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3239	HOXD13	HP:0005863	Type E brachydactyly	HP:0040281	ORPHA:93387
3239	HOXD13	HP:0005863	Type E brachydactyly	-	OMIM:113300
3239	HOXD13	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3239	HOXD13	HP:0008083	2nd-5th toe middle phalangeal hypoplasia	-	OMIM:186000
3239	HOXD13	HP:0000286	Epicanthus	1/7	OMIM:615777
3239	HOXD13	HP:0000280	Coarse facial features	2/7	OMIM:615777
3239	HOXD13	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93387
3239	HOXD13	HP:0005108	Abnormal intervertebral disk morphology	HP:0040283	ORPHA:887
3239	HOXD13	HP:0005107	Abnormal sacrum morphology	HP:0040283	ORPHA:887
3239	HOXD13	HP:0002827	Hip dislocation	3/7	OMIM:615777
3239	HOXD13	HP:0001571	Multiple impacted teeth	-	OMIM:113300
3239	HOXD13	HP:0000239	Large fontanelles	HP:0040283	ORPHA:887
3239	HOXD13	HP:0000252	Microcephaly	-	OMIM:615777
3239	HOXD13	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:887
3239	HOXD13	HP:0002857	Genu valgum	-	OMIM:131300
3239	HOXD13	HP:0001539	Omphalocele	HP:0040283	ORPHA:887
3239	HOXD13	HP:0001533	Slender build	-	OMIM:131300
3239	HOXD13	HP:0001501	6 metacarpals	-	OMIM:186000
3239	HOXD13	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:887
3239	HOXD13	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3239	HOXD13	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040282	ORPHA:887
3239	HOXD13	HP:0007807	Optic nerve compression	-	OMIM:131300
3239	HOXD13	HP:0012385	Camptodactyly	-	OMIM:610713
3239	HOXD13	HP:0012368	Flat face	7/7	OMIM:615777
3239	HOXD13	HP:0005264	Abnormality of the gallbladder	HP:0040283	ORPHA:887
3239	HOXD13	HP:0006587	Straight clavicles	-	OMIM:113300
3239	HOXD13	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3239	HOXD13	HP:0001601	Laryngomalacia	HP:0040282	ORPHA:887
3239	HOXD13	HP:0000365	Hearing impairment	10/67	OMIM:131300
3239	HOXD13	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:887
3239	HOXD13	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:887
3239	HOXD13	HP:0000343	Long philtrum	1/7	OMIM:615777
3239	HOXD13	HP:0011001	Increased bone mineral density	-	OMIM:131300
3239	HOXD13	HP:0000311	Round face	2/7	OMIM:615777
3239	HOXD13	HP:0000311	Round face	-	OMIM:113300
3239	HOXD13	HP:0001622	Premature birth	HP:0040281	ORPHA:887
3239	HOXD13	HP:0002970	Genu varum	-	OMIM:615777
3239	HOXD13	HP:0000303	Mandibular prognathia	-	OMIM:131300
3239	HOXD13	HP:0001732	Abnormality of the pancreas	HP:0040283	ORPHA:887
3239	HOXD13	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3239	HOXD13	HP:0000470	Short neck	1/7	OMIM:615777
3239	HOXD13	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:93409
3239	HOXD13	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3239	HOXD13	HP:0001763	Pes planus	1/7	OMIM:615777
3239	HOXD13	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040281	ORPHA:887
3239	HOXD13	HP:0001841	Preaxial foot polydactyly	HP:0040283	OMIM:186000
3239	HOXD13	HP:0001840	Metatarsus adductus	-	OMIM:615777
3239	HOXD13	HP:0000520	Proptosis	2/4	OMIM:131300
3239	HOXD13	HP:0000520	Proptosis	7/7	OMIM:615777
3239	HOXD13	HP:0001822	Hallux valgus	HP:0040282	ORPHA:93409
3239	HOXD13	HP:0001830	Postaxial foot polydactyly	-	OMIM:186000
3239	HOXD13	HP:0000592	Blue sclerae	2/7	OMIM:615777
3239	HOXD13	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3239	HOXD13	HP:0012514	Lower limb pain	4/4	OMIM:131300
3242	HPD	HP:0010917	Abnormal circulating tyrosine concentration	HP:0040281	ORPHA:2118
3242	HPD	HP:0010864	Intellectual disability, severe	1/5	OMIM:276710
3242	HPD	HP:0001256	Intellectual disability, mild	1/5	OMIM:276710
3242	HPD	HP:0001256	Intellectual disability, mild	1/3	OMIM:140350
3242	HPD	HP:0001250	Seizure	0/5	OMIM:276710
3242	HPD	HP:0001252	Hypotonia	HP:0040282	ORPHA:2118
3242	HPD	HP:0001263	Global developmental delay	3/5	OMIM:276710
3242	HPD	HP:0000007	Autosomal recessive inheritance	-	OMIM:276710
3242	HPD	HP:0000006	Autosomal dominant inheritance	-	OMIM:140350
3242	HPD	HP:0034457	Hawkinsinuria	2/2	OMIM:140350
3242	HPD	HP:0003593	Infantile onset	1/3	OMIM:276710
3242	HPD	HP:0003593	Infantile onset	3/3	OMIM:140350
3242	HPD	HP:0002213	Fine hair	HP:0040281	ORPHA:2118
3242	HPD	HP:0003623	Neonatal onset	2/3	OMIM:276710
3242	HPD	HP:0003607	4-hydroxyphenylacetic aciduria	4/4	OMIM:276710
3242	HPD	HP:0003607	4-hydroxyphenylacetic aciduria	2/2	OMIM:140350
3242	HPD	HP:0003607	4-hydroxyphenylacetic aciduria	HP:0040281	ORPHA:2118
3242	HPD	HP:6001004	Elevated urine hydroxyphenyllactic acid level	-	OMIM:140350
3242	HPD	HP:0001942	Metabolic acidosis	2/3	OMIM:140350
3242	HPD	HP:0001942	Metabolic acidosis	HP:0040281	ORPHA:2118
3242	HPD	HP:0000711	Restlessness	1/3	OMIM:140350
3242	HPD	HP:0003161	4-Hydroxyphenylpyruvic aciduria	4/4	OMIM:276710
3242	HPD	HP:0003161	4-Hydroxyphenylpyruvic aciduria	2/2	OMIM:140350
3242	HPD	HP:0003161	4-Hydroxyphenylpyruvic aciduria	HP:0040281	ORPHA:2118
3242	HPD	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:2118
3242	HPD	HP:0003231	Hypertyrosinemia	5/5	OMIM:276710
3242	HPD	HP:0003231	Hypertyrosinemia	2/2	OMIM:140350
3242	HPD	HP:0008070	Sparse hair	1/3	OMIM:140350
3242	HPD	HP:0008070	Sparse hair	HP:0040281	ORPHA:2118
3242	HPD	HP:0000252	Microcephaly	1/3	OMIM:140350
3242	HPD	HP:0001508	Failure to thrive	2/3	OMIM:140350
3242	HPD	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2118
3242	HPD	HP:0002910	Elevated circulating hepatic transaminase concentration	0/5	OMIM:276710
3248	HPGD	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:2796
3248	HPGD	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3248	HPGD	HP:0001293	Cranial nerve compression	-	OMIM:131300
3248	HPGD	HP:0001252	Hypotonia	2/7	OMIM:615777
3248	HPGD	HP:0001249	Intellectual disability	5/7	OMIM:615777
3248	HPGD	HP:0001263	Global developmental delay	-	OMIM:615777
3248	HPGD	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:2796
3248	HPGD	HP:0001217	Clubbing	-	OMIM:259100
3248	HPGD	HP:0001217	Clubbing	11/11	OMIM:119900
3248	HPGD	HP:0002515	Waddling gait	54/102	OMIM:131300
3248	HPGD	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:2796
3248	HPGD	HP:0001376	Limitation of joint mobility	-	OMIM:259100
3248	HPGD	HP:0001369	Arthritis	HP:0040282	ORPHA:1525
3248	HPGD	HP:0001369	Arthritis	HP:0040282	ORPHA:2796
3248	HPGD	HP:0001369	Arthritis	-	OMIM:259100
3248	HPGD	HP:0001386	Joint swelling	HP:0040282	ORPHA:1525
3248	HPGD	HP:0001386	Joint swelling	HP:0040282	ORPHA:2796
3248	HPGD	HP:0001387	Joint stiffness	HP:0040282	ORPHA:1525
3248	HPGD	HP:0001382	Joint hypermobility	-	OMIM:615777
3248	HPGD	HP:0002684	Thickened calvaria	-	OMIM:259100
3248	HPGD	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3248	HPGD	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3248	HPGD	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3248	HPGD	HP:0001324	Muscle weakness	40/96	OMIM:131300
3248	HPGD	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3248	HPGD	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3248	HPGD	HP:0000007	Autosomal recessive inheritance	-	OMIM:259100
3248	HPGD	HP:0000007	Autosomal recessive inheritance	-	OMIM:119900
3248	HPGD	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3248	HPGD	HP:0002653	Bone pain	-	ORPHA:217059
3248	HPGD	HP:0002653	Bone pain	HP:0040281	ORPHA:2796
3248	HPGD	HP:0002650	Scoliosis	HP:0040283	ORPHA:2796
3248	HPGD	HP:0002650	Scoliosis	12/14	OMIM:131300
3248	HPGD	HP:0002645	Wormian bones	-	OMIM:259100
3248	HPGD	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3248	HPGD	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3248	HPGD	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3248	HPGD	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3248	HPGD	HP:0000175	Cleft palate	2/7	OMIM:615777
3248	HPGD	HP:0002797	Osteolysis	HP:0040282	ORPHA:2796
3248	HPGD	HP:0031284	Flushing	-	OMIM:259100
3248	HPGD	HP:0002758	Osteoarthritis	HP:0040282	ORPHA:1525
3248	HPGD	HP:0002754	Osteomyelitis	HP:0040281	ORPHA:2796
3248	HPGD	HP:0002024	Malabsorption	HP:0040283	ORPHA:2796
3248	HPGD	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:2796
3248	HPGD	HP:0003388	Easy fatigability	36/76	OMIM:131300
3248	HPGD	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3248	HPGD	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2796
3248	HPGD	HP:0002164	Nail dysplasia	HP:0040282	ORPHA:217059
3248	HPGD	HP:0010541	Cutis gyrata of scalp	HP:0040282	ORPHA:2796
3248	HPGD	HP:0003577	Congenital onset	-	OMIM:259100
3248	HPGD	HP:0003577	Congenital onset	-	OMIM:119900
3248	HPGD	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:2796
3248	HPGD	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:2796
3248	HPGD	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:217059
3248	HPGD	HP:0010720	Abnormal hair pattern	HP:0040283	ORPHA:2796
3248	HPGD	HP:0100760	Clubbing of toes	HP:0040282	ORPHA:217059
3248	HPGD	HP:0100760	Clubbing of toes	HP:0040282	ORPHA:2796
3248	HPGD	HP:0100760	Clubbing of toes	HP:0040282	ORPHA:1525
3248	HPGD	HP:0100759	Clubbing of fingers	HP:0040282	ORPHA:217059
3248	HPGD	HP:0003510	Severe short stature	7/7	OMIM:615777
3248	HPGD	HP:0008391	Dystrophic fingernails	HP:0040283	ORPHA:217059
3248	HPGD	HP:0001051	Seborrheic dermatitis	-	OMIM:259100
3248	HPGD	HP:0001051	Seborrheic dermatitis	HP:0040281	ORPHA:2796
3248	HPGD	HP:0001061	Acne	HP:0040282	ORPHA:2796
3248	HPGD	HP:0002315	Headache	-	OMIM:131300
3248	HPGD	HP:0004976	Knee dislocation	6/7	OMIM:615777
3248	HPGD	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:2796
3248	HPGD	HP:0001070	Mottled pigmentation	HP:0040281	ORPHA:1525
3248	HPGD	HP:0001072	Thickened skin	HP:0040281	ORPHA:2796
3248	HPGD	HP:0009803	Short phalanx of finger	-	OMIM:615777
3248	HPGD	HP:0200055	Small hand	HP:0040283	ORPHA:2796
3248	HPGD	HP:0010783	Erythema	-	OMIM:259100
3248	HPGD	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:259100
3248	HPGD	HP:0009763	Limb pain	63/92	OMIM:131300
3248	HPGD	HP:0003621	Juvenile onset	-	OMIM:131300
3248	HPGD	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3248	HPGD	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3248	HPGD	HP:0005561	Abnormal bone marrow cell morphology	HP:0040283	ORPHA:2796
3248	HPGD	HP:6001056	Out-toeing	-	OMIM:131300
3248	HPGD	HP:0000651	Diplopia	-	OMIM:131300
3248	HPGD	HP:0001956	Truncal obesity	2/7	OMIM:615777
3248	HPGD	HP:0001903	Anemia	HP:0040283	OMIM:131300
3248	HPGD	HP:0001903	Anemia	HP:0040283	ORPHA:2796
3248	HPGD	HP:0010049	Short metacarpal	-	OMIM:615777
3248	HPGD	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:2796
3248	HPGD	HP:0000678	Dental crowding	-	OMIM:615777
3248	HPGD	HP:0000670	Carious teeth	-	OMIM:131300
3248	HPGD	HP:0011300	Broad fingertip	HP:0040282	ORPHA:217059
3248	HPGD	HP:0011304	Broad thumb	HP:0040282	ORPHA:217059
3248	HPGD	HP:0011304	Broad thumb	2/7	OMIM:615777
3248	HPGD	HP:0000668	Hypodontia	-	OMIM:615777
3248	HPGD	HP:0000664	Synophrys	-	OMIM:615777
3248	HPGD	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:2796
3248	HPGD	HP:0004396	Poor appetite	-	OMIM:131300
3248	HPGD	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3248	HPGD	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3248	HPGD	HP:0003040	Arthropathy	-	OMIM:259100
3248	HPGD	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3248	HPGD	HP:0003026	Short long bone	7/7	OMIM:615777
3248	HPGD	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3248	HPGD	HP:0000771	Gynecomastia	HP:0040283	ORPHA:2796
3248	HPGD	HP:0100021	Cerebral palsy	HP:0040283	ORPHA:2796
3248	HPGD	HP:0000767	Pectus excavatum	-	OMIM:259100
3248	HPGD	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3248	HPGD	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3248	HPGD	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3248	HPGD	HP:0000750	Delayed speech and language development	-	OMIM:615777
3248	HPGD	HP:0011461	Fetal onset	7/7	OMIM:615777
3248	HPGD	HP:0000774	Narrow chest	2/7	OMIM:615777
3248	HPGD	HP:0003103	Abnormal cortical bone morphology	HP:0040281	ORPHA:2796
3248	HPGD	HP:0003103	Abnormal cortical bone morphology	HP:0040281	ORPHA:1525
3248	HPGD	HP:0000929	Abnormal skull morphology	HP:0040281	ORPHA:1525
3248	HPGD	HP:0000926	Platyspondyly	1/7	OMIM:615777
3248	HPGD	HP:0003180	Flat acetabular roof	-	OMIM:615777
3248	HPGD	HP:0004482	Relative macrocephaly	-	OMIM:615777
3248	HPGD	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3248	HPGD	HP:0000890	Long clavicles	-	OMIM:259100
3248	HPGD	HP:0000845	Elevated circulating growth hormone concentration	HP:0040283	ORPHA:2796
3248	HPGD	HP:0000823	Delayed puberty	-	OMIM:131300
3248	HPGD	HP:0000894	Short clavicles	-	OMIM:615777
3248	HPGD	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3248	HPGD	HP:0000975	Hyperhidrosis	-	ORPHA:217059
3248	HPGD	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:2796
3248	HPGD	HP:0000975	Hyperhidrosis	-	OMIM:259100
3248	HPGD	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:259100
3248	HPGD	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:2796
3248	HPGD	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3248	HPGD	HP:0000951	Abnormality of the skin	-	ORPHA:217059
3248	HPGD	HP:0000969	Edema	HP:0040282	ORPHA:2796
3248	HPGD	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:1525
3248	HPGD	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:2796
3248	HPGD	HP:0000964	Eczematoid dermatitis	-	OMIM:259100
3248	HPGD	HP:0000939	Osteoporosis	HP:0040283	ORPHA:2796
3248	HPGD	HP:0000939	Osteoporosis	-	OMIM:259100
3248	HPGD	HP:0000938	Osteopenia	-	OMIM:259100
3248	HPGD	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:2796
3248	HPGD	HP:0000286	Epicanthus	1/7	OMIM:615777
3248	HPGD	HP:0000280	Coarse facial features	2/7	OMIM:615777
3248	HPGD	HP:0000280	Coarse facial features	HP:0040282	ORPHA:2796
3248	HPGD	HP:0000280	Coarse facial features	-	OMIM:259100
3248	HPGD	HP:0002815	Abnormality of the knee	HP:0040282	ORPHA:1525
3248	HPGD	HP:0002829	Arthralgia	HP:0040282	ORPHA:1525
3248	HPGD	HP:0002829	Arthralgia	-	ORPHA:217059
3248	HPGD	HP:0002829	Arthralgia	HP:0040282	ORPHA:2796
3248	HPGD	HP:0002829	Arthralgia	-	OMIM:259100
3248	HPGD	HP:0002827	Hip dislocation	3/7	OMIM:615777
3248	HPGD	HP:0000239	Large fontanelles	-	OMIM:259100
3248	HPGD	HP:0000239	Large fontanelles	HP:0040281	ORPHA:1525
3248	HPGD	HP:0000252	Microcephaly	-	OMIM:615777
3248	HPGD	HP:0001582	Redundant skin	-	OMIM:259100
3248	HPGD	HP:0012203	Onychomycosis	HP:0040283	ORPHA:217059
3248	HPGD	HP:0000218	High palate	-	OMIM:259100
3248	HPGD	HP:0002857	Genu valgum	-	OMIM:131300
3248	HPGD	HP:0001533	Slender build	-	OMIM:131300
3248	HPGD	HP:0001500	Broad finger	HP:0040282	ORPHA:217059
3248	HPGD	HP:0001519	Disproportionate tall stature	-	OMIM:259100
3248	HPGD	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3248	HPGD	HP:0007807	Optic nerve compression	-	OMIM:131300
3248	HPGD	HP:0012368	Flat face	7/7	OMIM:615777
3248	HPGD	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3248	HPGD	HP:0000365	Hearing impairment	10/67	OMIM:131300
3248	HPGD	HP:0000343	Long philtrum	1/7	OMIM:615777
3248	HPGD	HP:0011001	Increased bone mineral density	-	OMIM:131300
3248	HPGD	HP:0001643	Patent ductus arteriosus	-	OMIM:259100
3248	HPGD	HP:0000311	Round face	2/7	OMIM:615777
3248	HPGD	HP:0002992	Abnormal tibia morphology	HP:0040282	ORPHA:1525
3248	HPGD	HP:0002970	Genu varum	-	OMIM:615777
3248	HPGD	HP:0002970	Genu varum	HP:0040283	ORPHA:2796
3248	HPGD	HP:0000303	Mandibular prognathia	-	OMIM:131300
3248	HPGD	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3248	HPGD	HP:0001795	Hyperconvex nail	HP:0040282	ORPHA:217059
3248	HPGD	HP:0000470	Short neck	1/7	OMIM:615777
3248	HPGD	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3248	HPGD	HP:0001763	Pes planus	1/7	OMIM:615777
3248	HPGD	HP:0001744	Splenomegaly	HP:0040283	ORPHA:2796
3248	HPGD	HP:0001840	Metatarsus adductus	-	OMIM:615777
3248	HPGD	HP:0000520	Proptosis	2/4	OMIM:131300
3248	HPGD	HP:0000520	Proptosis	7/7	OMIM:615777
3248	HPGD	HP:0001821	Broad nail	HP:0040282	ORPHA:217059
3248	HPGD	HP:0001837	Broad toe	HP:0040282	ORPHA:217059
3248	HPGD	HP:0000508	Ptosis	-	OMIM:259100
3248	HPGD	HP:0000508	Ptosis	HP:0040282	ORPHA:2796
3248	HPGD	HP:0001805	Onychogryphosis	HP:0040282	ORPHA:217059
3248	HPGD	HP:0004097	Deviation of finger	HP:0040283	ORPHA:1525
3248	HPGD	HP:0000592	Blue sclerae	2/7	OMIM:615777
3248	HPGD	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3248	HPGD	HP:0012514	Lower limb pain	4/4	OMIM:131300
3251	HPRT1	HP:0002421	Poor head control	1/1	OMIM:300322
3251	HPRT1	HP:0001270	Motor delay	-	OMIM:300322
3251	HPRT1	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:510
3251	HPRT1	HP:0001250	Seizure	1/20	OMIM:300322
3251	HPRT1	HP:0001250	Seizure	HP:0040283	ORPHA:79233
3251	HPRT1	HP:0001252	Hypotonia	2/2	OMIM:300322
3251	HPRT1	HP:0001249	Intellectual disability	2/2	OMIM:300322
3251	HPRT1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:79233
3251	HPRT1	HP:0001266	Choreoathetosis	-	OMIM:300322
3251	HPRT1	HP:0001260	Dysarthria	-	OMIM:300322
3251	HPRT1	HP:0001263	Global developmental delay	23/23	OMIM:300322
3251	HPRT1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:79233
3251	HPRT1	HP:0001257	Spasticity	HP:0040281	ORPHA:510
3251	HPRT1	HP:0001257	Spasticity	-	OMIM:300322
3251	HPRT1	HP:0000083	Renal insufficiency	-	OMIM:300323
3251	HPRT1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:79233
3251	HPRT1	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:510
3251	HPRT1	HP:0001347	Hyperreflexia	-	OMIM:300322
3251	HPRT1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:79233
3251	HPRT1	HP:0000029	Testicular atrophy	-	OMIM:300322
3251	HPRT1	HP:0001332	Dystonia	-	OMIM:300322
3251	HPRT1	HP:0001332	Dystonia	HP:0040282	ORPHA:79233
3251	HPRT1	HP:0000121	Nephrocalcinosis	13/17	OMIM:300322
3251	HPRT1	HP:0000112	Nephropathy	HP:0040282	ORPHA:79233
3251	HPRT1	HP:0001419	X-linked recessive inheritance	-	OMIM:300322
3251	HPRT1	HP:0001419	X-linked recessive inheritance	-	OMIM:300323
3251	HPRT1	HP:0002015	Dysphagia	-	OMIM:300322
3251	HPRT1	HP:0002013	Vomiting	-	OMIM:300322
3251	HPRT1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:79233
3251	HPRT1	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:300322
3251	HPRT1	HP:0100518	Dysuria	HP:0040283	ORPHA:79233
3251	HPRT1	HP:0002149	Hyperuricemia	HP:0040281	ORPHA:510
3251	HPRT1	HP:0002149	Hyperuricemia	1/1	OMIM:300322
3251	HPRT1	HP:0002149	Hyperuricemia	-	OMIM:300323
3251	HPRT1	HP:0002149	Hyperuricemia	HP:0040282	ORPHA:79233
3251	HPRT1	HP:0002179	Opisthotonus	-	OMIM:300322
3251	HPRT1	HP:0003593	Infantile onset	2/2	OMIM:300322
3251	HPRT1	HP:0100716	Self-injurious behavior	18/20	OMIM:300322
3251	HPRT1	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:510
3251	HPRT1	HP:0003621	Juvenile onset	7/23	OMIM:300322
3251	HPRT1	HP:0001903	Anemia	HP:0040282	ORPHA:510
3251	HPRT1	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:79233
3251	HPRT1	HP:0001997	Gout	HP:0040281	ORPHA:510
3251	HPRT1	HP:0001997	Gout	HP:0040283	ORPHA:79233
3251	HPRT1	HP:0004322	Short stature	-	OMIM:300322
3251	HPRT1	HP:0004374	Hemiplegia/hemiparesis	HP:0040281	ORPHA:510
3251	HPRT1	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:510
3251	HPRT1	HP:0000742	Self-mutilation	-	ORPHA:79233
3251	HPRT1	HP:0000708	Atypical behavior	HP:0040281	ORPHA:510
3251	HPRT1	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:79233
3251	HPRT1	HP:0011463	Childhood onset	8/23	OMIM:300322
3251	HPRT1	HP:0011462	Young adult onset	2/23	OMIM:300322
3251	HPRT1	HP:0000791	Uric acid nephrolithiasis	HP:0040283	ORPHA:79233
3251	HPRT1	HP:0000790	Hematuria	HP:0040282	ORPHA:510
3251	HPRT1	HP:0000787	Nephrolithiasis	-	OMIM:300322
3251	HPRT1	HP:0000787	Nephrolithiasis	-	OMIM:300323
3251	HPRT1	HP:0003149	Hyperuricosuria	-	OMIM:300322
3251	HPRT1	HP:0003149	Hyperuricosuria	-	OMIM:300323
3251	HPRT1	HP:0003149	Hyperuricosuria	HP:0040282	ORPHA:79233
3251	HPRT1	HP:0003259	Elevated circulating creatinine concentration	HP:0040283	ORPHA:79233
3251	HPRT1	HP:0002827	Hip dislocation	5/20	OMIM:300322
3251	HPRT1	HP:0001854	Podagra	-	OMIM:300322
3251	HPRT1	HP:0001854	Podagra	-	OMIM:300323
3251	HPRT1	HP:0012587	Macroscopic hematuria	HP:0040283	ORPHA:79233
3251	HPRT1	HP:0001889	Megaloblastic anemia	-	OMIM:300322
3257	HPS1	HP:0001141	Severely reduced visual acuity	-	OMIM:203300
3257	HPS1	HP:0001107	Ocular albinism	-	OMIM:203300
3257	HPS1	HP:0002583	Colitis	-	OMIM:203300
3257	HPS1	HP:0002573	Hematochezia	-	OMIM:203300
3257	HPS1	HP:0000083	Renal insufficiency	-	OMIM:203300
3257	HPS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:203300
3257	HPS1	HP:0007603	Freckles in sun-exposed areas	-	OMIM:203300
3257	HPS1	HP:0001480	Freckling	-	OMIM:203300
3257	HPS1	HP:0002037	Inflammation of the large intestine	-	OMIM:203300
3257	HPS1	HP:0002027	Abdominal pain	-	OMIM:203300
3257	HPS1	HP:0002091	Restrictive ventilatory defect	-	OMIM:203300
3257	HPS1	HP:0002206	Pulmonary fibrosis	-	OMIM:203300
3257	HPS1	HP:0001010	Hypopigmentation of the skin	3/3	OMIM:203300
3257	HPS1	HP:0001022	Albinism	-	OMIM:203300
3257	HPS1	HP:0005599	Hypopigmentation of hair	3/3	OMIM:203300
3257	HPS1	HP:0000639	Nystagmus	3/3	OMIM:203300
3257	HPS1	HP:0000618	Blindness	-	OMIM:203300
3257	HPS1	HP:0000613	Photophobia	3/3	OMIM:203300
3257	HPS1	HP:0003010	Prolonged bleeding time	-	OMIM:203300
3257	HPS1	HP:0000995	Melanocytic nevus	-	OMIM:203300
3257	HPS1	HP:0000978	Bruising susceptibility	3/3	OMIM:203300
3257	HPS1	HP:0000225	Gingival bleeding	-	OMIM:203300
3257	HPS1	HP:0031364	Ecchymosis	3/3	OMIM:203300
3257	HPS1	HP:0001638	Cardiomyopathy	-	OMIM:203300
3257	HPS1	HP:0000421	Epistaxis	-	OMIM:203300
3265	HRAS	HP:0001187	Hyperextensibility of the finger joints	-	OMIM:218040
3265	HRAS	HP:0001156	Brachydactyly	HP:0040283	ORPHA:79414
3265	HRAS	HP:0001167	Abnormal finger morphology	-	OMIM:163200
3265	HRAS	HP:0100963	Hyperesthesia	HP:0040284	ORPHA:2874
3265	HRAS	HP:0009917	Persistent pupillary membrane	HP:0040283	ORPHA:79414
3265	HRAS	HP:0002414	Spina bifida	HP:0040284	ORPHA:2874
3265	HRAS	HP:0003745	Sporadic	-	OMIM:218040
3265	HRAS	HP:0003745	Sporadic	-	OMIM:163200
3265	HRAS	HP:0001100	Heterochromia iridis	HP:0040283	ORPHA:79414
3265	HRAS	HP:0003764	Nevus	-	OMIM:163200
3265	HRAS	HP:0003764	Nevus	-	OMIM:218040
3265	HRAS	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3265	HRAS	HP:0001293	Cranial nerve compression	-	OMIM:131300
3265	HRAS	HP:0100814	Blue nevus	HP:0040284	ORPHA:2874
3265	HRAS	HP:0001269	Hemiparesis	HP:0040284	ORPHA:2874
3265	HRAS	HP:0001250	Seizure	HP:0040284	ORPHA:2874
3265	HRAS	HP:0001250	Seizure	-	OMIM:163200
3265	HRAS	HP:0001250	Seizure	HP:0040281	ORPHA:2612
3265	HRAS	HP:0001252	Hypotonia	HP:0040281	ORPHA:2612
3265	HRAS	HP:0001252	Hypotonia	2/7	OMIM:615777
3265	HRAS	HP:0001249	Intellectual disability	-	OMIM:218040
3265	HRAS	HP:0001249	Intellectual disability	-	OMIM:163200
3265	HRAS	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2612
3265	HRAS	HP:0001249	Intellectual disability	HP:0040282	ORPHA:3071
3265	HRAS	HP:0001249	Intellectual disability	5/7	OMIM:615777
3265	HRAS	HP:0001263	Global developmental delay	-	OMIM:218040
3265	HRAS	HP:0001263	Global developmental delay	-	OMIM:615777
3265	HRAS	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:3071
3265	HRAS	HP:0007440	Generalized hyperpigmentation	HP:0040283	ORPHA:3071
3265	HRAS	HP:0007400	Irregular hyperpigmentation	HP:0040282	ORPHA:2612
3265	HRAS	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2612
3265	HRAS	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:2612
3265	HRAS	HP:0002515	Waddling gait	54/102	OMIM:131300
3265	HRAS	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:2612
3265	HRAS	HP:0000083	Renal insufficiency	HP:0040283	OMIM:218040
3265	HRAS	HP:0000085	Horseshoe kidney	-	OMIM:163200
3265	HRAS	HP:0012056	Cutaneous melanoma	-	OMIM:137550
3265	HRAS	HP:0012056	Cutaneous melanoma	HP:0040284	ORPHA:2874
3265	HRAS	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:3071
3265	HRAS	HP:0001382	Joint hypermobility	-	OMIM:615777
3265	HRAS	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:2612
3265	HRAS	HP:0001347	Hyperreflexia	HP:0040284	ORPHA:2874
3265	HRAS	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3265	HRAS	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:2612
3265	HRAS	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3071
3265	HRAS	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:2874
3265	HRAS	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3265	HRAS	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:3071
3265	HRAS	HP:0007534	Congenital posterior occipital alopecia	HP:0040282	ORPHA:79414
3265	HRAS	HP:0012081	Enlarged cerebellum	-	OMIM:218040
3265	HRAS	HP:0006191	Deep palmar crease	-	OMIM:218040
3265	HRAS	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:3071
3265	HRAS	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3265	HRAS	HP:0001324	Muscle weakness	40/96	OMIM:131300
3265	HRAS	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3265	HRAS	HP:0002671	Basal cell carcinoma	-	OMIM:163200
3265	HRAS	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:2874
3265	HRAS	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3265	HRAS	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:2874
3265	HRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:218040
3265	HRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:109800
3265	HRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
3265	HRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3265	HRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:188470
3265	HRAS	HP:0002666	Pheochromocytoma	HP:0040284	ORPHA:2874
3265	HRAS	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:2612
3265	HRAS	HP:0002650	Scoliosis	12/14	OMIM:131300
3265	HRAS	HP:0002650	Scoliosis	HP:0040282	ORPHA:2874
3265	HRAS	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:2612
3265	HRAS	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3265	HRAS	HP:0002619	Varicose veins	-	OMIM:153400
3265	HRAS	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3265	HRAS	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3265	HRAS	HP:0000189	Narrow palate	HP:0040281	ORPHA:3071
3265	HRAS	HP:0000179	Thick lower lip vermilion	HP:0040282	ORPHA:3071
3265	HRAS	HP:0000179	Thick lower lip vermilion	-	OMIM:218040
3265	HRAS	HP:0000194	Open mouth	-	OMIM:137550
3265	HRAS	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3265	HRAS	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:3071
3265	HRAS	HP:0000158	Macroglossia	HP:0040282	ORPHA:3071
3265	HRAS	HP:0000158	Macroglossia	-	OMIM:218040
3265	HRAS	HP:0000175	Cleft palate	5/39	OMIM:153400
3265	HRAS	HP:0000175	Cleft palate	2/7	OMIM:615777
3265	HRAS	HP:0006304	Widely-spaced incisors	HP:0040283	ORPHA:79414
3265	HRAS	HP:0002780	Bronchomalacia	-	OMIM:218040
3265	HRAS	HP:0002779	Tracheomalacia	-	OMIM:218040
3265	HRAS	HP:0002757	Recurrent fractures	-	OMIM:163200
3265	HRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:188470
3265	HRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:109800
3265	HRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:163200
3265	HRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:137550
3265	HRAS	HP:0001442	Typified by somatic mosaicism	20/20	OMIM:162900
3265	HRAS	HP:0002751	Kyphoscoliosis	-	OMIM:163200
3265	HRAS	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:3071
3265	HRAS	HP:0002021	Pyloric stenosis	-	OMIM:218040
3265	HRAS	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:3071
3265	HRAS	HP:0002033	Poor suck	HP:0040283	ORPHA:3071
3265	HRAS	HP:0002033	Poor suck	-	OMIM:218040
3265	HRAS	HP:0004690	Thickened Achilles tendon	HP:0040282	ORPHA:3071
3265	HRAS	HP:0002002	Deep philtrum	-	OMIM:137550
3265	HRAS	HP:0005989	Redundant neck skin	-	OMIM:218040
3265	HRAS	HP:0002007	Frontal bossing	HP:0040281	ORPHA:2612
3265	HRAS	HP:0002093	Respiratory insufficiency	-	OMIM:218040
3265	HRAS	HP:0100556	Hemiatrophy	HP:0040283	ORPHA:2874
3265	HRAS	HP:0100555	Asymmetric growth	HP:0040281	ORPHA:2612
3265	HRAS	HP:0002059	Cerebral atrophy	-	OMIM:218040
3265	HRAS	HP:0003388	Easy fatigability	36/76	OMIM:131300
3265	HRAS	HP:0009465	Ulnar deviation of finger	HP:0040282	ORPHA:3071
3265	HRAS	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3265	HRAS	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:3071
3265	HRAS	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:2612
3265	HRAS	HP:0002119	Ventriculomegaly	-	OMIM:218040
3265	HRAS	HP:0002132	Porencephalic cyst	HP:0040282	ORPHA:2612
3265	HRAS	HP:0002107	Pneumothorax	-	OMIM:218040
3265	HRAS	HP:0003422	Vertebral segmentation defect	HP:0040281	ORPHA:2612
3265	HRAS	HP:0009588	Vestibular schwannoma	-	OMIM:218040
3265	HRAS	HP:0003577	Congenital onset	-	OMIM:137550
3265	HRAS	HP:0100702	Arachnoid cyst	HP:0040284	ORPHA:2874
3265	HRAS	HP:0002224	Woolly hair	HP:0040281	ORPHA:3071
3265	HRAS	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
3265	HRAS	HP:0002232	Patchy alopecia	HP:0040284	ORPHA:2874
3265	HRAS	HP:0002212	Curly hair	HP:0040281	ORPHA:79414
3265	HRAS	HP:0002212	Curly hair	-	OMIM:218040
3265	HRAS	HP:0002213	Fine hair	HP:0040281	ORPHA:79414
3265	HRAS	HP:0009743	Distichiasis	42/42	OMIM:153400
3265	HRAS	HP:0009748	Large earlobe	HP:0040283	ORPHA:3071
3265	HRAS	HP:0009720	Adenoma sebaceum	HP:0040281	ORPHA:2612
3265	HRAS	HP:0009725	Bladder neoplasm	-	OMIM:109800
3265	HRAS	HP:0100729	Large face	HP:0040283	ORPHA:3071
3265	HRAS	HP:0003510	Severe short stature	7/7	OMIM:615777
3265	HRAS	HP:0007099	Chiari type I malformation	-	OMIM:218040
3265	HRAS	HP:0001054	Numerous nevi	-	OMIM:162900
3265	HRAS	HP:0001048	Cavernous hemangioma	HP:0040281	ORPHA:2612
3265	HRAS	HP:0001028	Hemangioma	-	OMIM:163200
3265	HRAS	HP:0001028	Hemangioma	HP:0040284	ORPHA:2874
3265	HRAS	HP:0001010	Hypopigmentation of the skin	-	OMIM:163200
3265	HRAS	HP:0001004	Lymphedema	HP:0040284	ORPHA:2874
3265	HRAS	HP:0001004	Lymphedema	-	OMIM:153400
3265	HRAS	HP:0002353	EEG abnormality	HP:0040281	ORPHA:2612
3265	HRAS	HP:0002315	Headache	-	OMIM:131300
3265	HRAS	HP:0004976	Knee dislocation	6/7	OMIM:615777
3265	HRAS	HP:0007206	Hemimegalencephaly	-	OMIM:163200
3265	HRAS	HP:0100658	Cellulitis	2/6	OMIM:153400
3265	HRAS	HP:0010815	Nevus sebaceous	-	OMIM:163200
3265	HRAS	HP:0010817	Linear nevus sebaceous	-	OMIM:163200
3265	HRAS	HP:0010817	Linear nevus sebaceous	HP:0040281	ORPHA:2874
3265	HRAS	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:3071
3265	HRAS	HP:0009803	Short phalanx of finger	-	OMIM:615777
3265	HRAS	HP:0010759	Prominence of the premaxilla	-	OMIM:137550
3265	HRAS	HP:0009763	Limb pain	63/92	OMIM:131300
3265	HRAS	HP:0003621	Juvenile onset	-	OMIM:131300
3265	HRAS	HP:0004912	Hypophosphatemic rickets	-	OMIM:163200
3265	HRAS	HP:0004912	Hypophosphatemic rickets	HP:0040283	ORPHA:2874
3265	HRAS	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3265	HRAS	HP:0031842	Lymphangiectasis	-	OMIM:218040
3265	HRAS	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3265	HRAS	HP:6001056	Out-toeing	-	OMIM:131300
3265	HRAS	HP:0000651	Diplopia	-	OMIM:131300
3265	HRAS	HP:0000613	Photophobia	10/49	OMIM:153400
3265	HRAS	HP:0000612	Iris coloboma	HP:0040281	ORPHA:2612
3265	HRAS	HP:0001943	Hypoglycemia	-	OMIM:218040
3265	HRAS	HP:0000629	Periorbital fullness	-	OMIM:137550
3265	HRAS	HP:0001956	Truncal obesity	2/7	OMIM:615777
3265	HRAS	HP:0000602	Ophthalmoplegia	HP:0040283	OMIM:163200
3265	HRAS	HP:0001903	Anemia	HP:0040283	OMIM:131300
3265	HRAS	HP:0010049	Short metacarpal	-	OMIM:615777
3265	HRAS	HP:0011387	Enlarged vestibular aqueduct	HP:0040283	ORPHA:79414
3265	HRAS	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
3265	HRAS	HP:0011365	Patchy hypopigmentation of hair	HP:0040281	ORPHA:79414
3265	HRAS	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:3071
3265	HRAS	HP:0000678	Dental crowding	-	OMIM:615777
3265	HRAS	HP:0000656	Ectropion	2/43	OMIM:153400
3265	HRAS	HP:0000670	Carious teeth	-	OMIM:131300
3265	HRAS	HP:0011304	Broad thumb	2/7	OMIM:615777
3265	HRAS	HP:0000668	Hypodontia	-	OMIM:615777
3265	HRAS	HP:0000664	Synophrys	-	OMIM:615777
3265	HRAS	HP:0004322	Short stature	-	OMIM:218040
3265	HRAS	HP:0004322	Short stature	-	OMIM:163200
3265	HRAS	HP:0004322	Short stature	HP:0040281	ORPHA:3071
3265	HRAS	HP:0005600	Congenital giant melanocytic nevus	-	OMIM:137550
3265	HRAS	HP:0004396	Poor appetite	-	OMIM:131300
3265	HRAS	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3265	HRAS	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3265	HRAS	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3265	HRAS	HP:0003011	Abnormality of the musculature	-	OMIM:153400
3265	HRAS	HP:0003026	Short long bone	7/7	OMIM:615777
3265	HRAS	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3265	HRAS	HP:0012740	Papilloma	HP:0040282	ORPHA:3071
3265	HRAS	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3265	HRAS	HP:0000768	Pectus carinatum	-	OMIM:218040
3265	HRAS	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3265	HRAS	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3265	HRAS	HP:0000750	Delayed speech and language development	-	OMIM:615777
3265	HRAS	HP:0011461	Fetal onset	7/7	OMIM:615777
3265	HRAS	HP:0000774	Narrow chest	2/7	OMIM:615777
3265	HRAS	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:2874
3265	HRAS	HP:0003109	Hyperphosphaturia	HP:0040283	OMIM:163200
3265	HRAS	HP:0004422	Biparietal narrowing	HP:0040281	ORPHA:2612
3265	HRAS	HP:0003196	Short nose	-	OMIM:137550
3265	HRAS	HP:0034275	Verrucous epidermal nevus	HP:0040282	ORPHA:79414
3265	HRAS	HP:0000926	Platyspondyly	1/7	OMIM:615777
3265	HRAS	HP:0003180	Flat acetabular roof	-	OMIM:615777
3265	HRAS	HP:0004482	Relative macrocephaly	-	OMIM:615777
3265	HRAS	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3265	HRAS	HP:0012804	Corneal ulceration	-	OMIM:153400
3265	HRAS	HP:0000826	Precocious puberty	HP:0040284	ORPHA:79414
3265	HRAS	HP:0000826	Precocious puberty	HP:0040283	OMIM:163200
3265	HRAS	HP:0000826	Precocious puberty	HP:0040284	ORPHA:2874
3265	HRAS	HP:0000823	Delayed puberty	-	OMIM:131300
3265	HRAS	HP:0000894	Short clavicles	-	OMIM:615777
3265	HRAS	HP:0030880	Raynaud phenomenon	HP:0040284	ORPHA:2874
3265	HRAS	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3265	HRAS	HP:0000995	Melanocytic nevus	HP:0040281	ORPHA:2612
3265	HRAS	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:2874
3265	HRAS	HP:0000995	Melanocytic nevus	-	OMIM:162900
3265	HRAS	HP:0010310	Chylothorax	1/6	OMIM:153400
3265	HRAS	HP:0000975	Hyperhidrosis	HP:0040284	ORPHA:2874
3265	HRAS	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3265	HRAS	HP:0000953	Hyperpigmentation of the skin	-	OMIM:218040
3265	HRAS	HP:0000956	Acanthosis nigricans	HP:0040281	ORPHA:3071
3265	HRAS	HP:0000956	Acanthosis nigricans	-	OMIM:218040
3265	HRAS	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:3071
3265	HRAS	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:3071
3265	HRAS	HP:0000938	Osteopenia	-	OMIM:163200
3265	HRAS	HP:0040149	Woolly scalp hair	HP:0040281	ORPHA:79414
3265	HRAS	HP:0008070	Sparse hair	-	OMIM:218040
3265	HRAS	HP:0008064	Ichthyosis	-	OMIM:163200
3265	HRAS	HP:0011675	Arrhythmia	-	OMIM:218040
3265	HRAS	HP:0011675	Arrhythmia	-	OMIM:153400
3265	HRAS	HP:0011675	Arrhythmia	HP:0040284	ORPHA:2874
3265	HRAS	HP:0040198	Non-medullary thyroid carcinoma	-	OMIM:188470
3265	HRAS	HP:0000286	Epicanthus	HP:0040282	ORPHA:3071
3265	HRAS	HP:0000286	Epicanthus	-	OMIM:218040
3265	HRAS	HP:0000286	Epicanthus	1/7	OMIM:615777
3265	HRAS	HP:0000280	Coarse facial features	-	OMIM:218040
3265	HRAS	HP:0000280	Coarse facial features	2/7	OMIM:615777
3265	HRAS	HP:0000280	Coarse facial features	HP:0040283	ORPHA:3071
3265	HRAS	HP:0000293	Full cheeks	HP:0040282	ORPHA:3071
3265	HRAS	HP:0000293	Full cheeks	-	OMIM:218040
3265	HRAS	HP:0000293	Full cheeks	-	OMIM:137550
3265	HRAS	HP:0001595	Abnormal hair morphology	HP:0040283	ORPHA:3071
3265	HRAS	HP:0001596	Alopecia	HP:0040281	ORPHA:2612
3265	HRAS	HP:0001596	Alopecia	-	OMIM:163200
3265	HRAS	HP:0000260	Wide anterior fontanel	-	OMIM:218040
3265	HRAS	HP:0000256	Macrocephaly	HP:0040281	ORPHA:3071
3265	HRAS	HP:0000256	Macrocephaly	-	OMIM:218040
3265	HRAS	HP:0000267	Cranial asymmetry	-	OMIM:163200
3265	HRAS	HP:0001598	Concave nail	HP:0040281	ORPHA:3071
3265	HRAS	HP:0001598	Concave nail	-	OMIM:218040
3265	HRAS	HP:0000269	Prominent occiput	HP:0040281	ORPHA:2612
3265	HRAS	HP:0002816	Genu recurvatum	HP:0040281	ORPHA:2612
3265	HRAS	HP:0002827	Hip dislocation	3/7	OMIM:615777
3265	HRAS	HP:0002808	Kyphosis	2/5	OMIM:153400
3265	HRAS	HP:0000238	Hydrocephalus	-	OMIM:218040
3265	HRAS	HP:0000252	Microcephaly	-	OMIM:615777
3265	HRAS	HP:0001582	Redundant skin	HP:0040281	ORPHA:3071
3265	HRAS	HP:0001552	Barrel-shaped chest	-	OMIM:218040
3265	HRAS	HP:0001548	Overgrowth	-	OMIM:163200
3265	HRAS	HP:0001548	Overgrowth	-	OMIM:218040
3265	HRAS	HP:0002878	Respiratory failure	-	OMIM:218040
3265	HRAS	HP:0000218	High palate	-	OMIM:218040
3265	HRAS	HP:0002895	Papillary thyroid carcinoma	-	OMIM:188470
3265	HRAS	HP:0001561	Polyhydramnios	-	OMIM:218040
3265	HRAS	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:3071
3265	HRAS	HP:0000232	Everted lower lip vermilion	-	OMIM:137550
3265	HRAS	HP:0025510	Nevus spilus	-	OMIM:137550
3265	HRAS	HP:0025510	Nevus spilus	HP:0040281	ORPHA:2874
3265	HRAS	HP:0002862	Bladder carcinoma	-	OMIM:218040
3265	HRAS	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:3071
3265	HRAS	HP:0002859	Rhabdomyosarcoma	-	OMIM:218040
3265	HRAS	HP:0002859	Rhabdomyosarcoma	HP:0040283	ORPHA:2874
3265	HRAS	HP:0001528	Hemihypertrophy	-	OMIM:163200
3265	HRAS	HP:0001528	Hemihypertrophy	HP:0040284	ORPHA:2874
3265	HRAS	HP:0002857	Genu valgum	-	OMIM:131300
3265	HRAS	HP:0002870	Obstructive sleep apnea	-	OMIM:218040
3265	HRAS	HP:0001533	Slender build	-	OMIM:131300
3265	HRAS	HP:0000204	Cleft upper lip	-	OMIM:153400
3265	HRAS	HP:0001508	Failure to thrive	-	OMIM:218040
3265	HRAS	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3265	HRAS	HP:0001510	Growth delay	HP:0040283	ORPHA:2612
3265	HRAS	HP:0001510	Growth delay	-	OMIM:163200
3265	HRAS	HP:0007807	Optic nerve compression	-	OMIM:131300
3265	HRAS	HP:0011073	Abnormality of dental color	-	OMIM:163200
3265	HRAS	HP:0012368	Flat face	7/7	OMIM:615777
3265	HRAS	HP:0001609	Hoarse voice	-	OMIM:218040
3265	HRAS	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3265	HRAS	HP:0006482	Abnormal dental morphology	-	OMIM:163200
3265	HRAS	HP:0000365	Hearing impairment	10/67	OMIM:131300
3265	HRAS	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:3071
3265	HRAS	HP:0000358	Posteriorly rotated ears	-	OMIM:218040
3265	HRAS	HP:0000369	Low-set ears	-	OMIM:218040
3265	HRAS	HP:0001699	Sudden death	-	OMIM:218040
3265	HRAS	HP:0000343	Long philtrum	1/7	OMIM:615777
3265	HRAS	HP:0000343	Long philtrum	-	OMIM:137550
3265	HRAS	HP:0011001	Increased bone mineral density	-	OMIM:131300
3265	HRAS	HP:0000337	Broad forehead	-	OMIM:137550
3265	HRAS	HP:0002996	Limited elbow movement	-	OMIM:218040
3265	HRAS	HP:0001680	Coarctation of aorta	-	OMIM:163200
3265	HRAS	HP:0000347	Micrognathia	2/5	OMIM:153400
3265	HRAS	HP:0000347	Micrognathia	-	OMIM:218040
3265	HRAS	HP:0000316	Hypertelorism	-	OMIM:137550
3265	HRAS	HP:0000316	Hypertelorism	-	OMIM:218040
3265	HRAS	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
3265	HRAS	HP:0000311	Round face	2/7	OMIM:615777
3265	HRAS	HP:0000311	Round face	-	OMIM:137550
3265	HRAS	HP:0001642	Pulmonic stenosis	HP:0040281	ORPHA:3071
3265	HRAS	HP:0001642	Pulmonic stenosis	-	OMIM:218040
3265	HRAS	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:2612
3265	HRAS	HP:0001629	Ventricular septal defect	HP:0040281	ORPHA:3071
3265	HRAS	HP:0001629	Ventricular septal defect	-	OMIM:218040
3265	HRAS	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
3265	HRAS	HP:0001622	Premature birth	-	OMIM:218040
3265	HRAS	HP:0002970	Genu varum	-	OMIM:615777
3265	HRAS	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:218040
3265	HRAS	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:3071
3265	HRAS	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
3265	HRAS	HP:0000307	Pointed chin	-	OMIM:218040
3265	HRAS	HP:0001631	Atrial septal defect	-	OMIM:218040
3265	HRAS	HP:0000303	Mandibular prognathia	-	OMIM:131300
3265	HRAS	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:3071
3265	HRAS	HP:0001634	Mitral valve prolapse	-	OMIM:218040
3265	HRAS	HP:0007957	Corneal opacity	HP:0040283	OMIM:163200
3265	HRAS	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:3071
3265	HRAS	HP:0005280	Depressed nasal bridge	-	OMIM:218040
3265	HRAS	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3265	HRAS	HP:0000486	Strabismus	HP:0040282	ORPHA:3071
3265	HRAS	HP:0000486	Strabismus	-	OMIM:218040
3265	HRAS	HP:0000476	Cystic hygroma	2/43	OMIM:153400
3265	HRAS	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:2612
3265	HRAS	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
3265	HRAS	HP:0000494	Downslanted palpebral fissures	-	OMIM:218040
3265	HRAS	HP:0000463	Anteverted nares	-	OMIM:218040
3265	HRAS	HP:0000463	Anteverted nares	-	OMIM:137550
3265	HRAS	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
3265	HRAS	HP:0000455	Broad nasal tip	-	OMIM:137550
3265	HRAS	HP:0000474	Thickened nuchal skin fold	HP:0040282	ORPHA:3071
3265	HRAS	HP:0000470	Short neck	HP:0040281	ORPHA:3071
3265	HRAS	HP:0000470	Short neck	-	OMIM:218040
3265	HRAS	HP:0000470	Short neck	1/7	OMIM:615777
3265	HRAS	HP:0000465	Webbed neck	-	OMIM:218040
3265	HRAS	HP:0000465	Webbed neck	6/43	OMIM:153400
3265	HRAS	HP:0001771	Achilles tendon contracture	-	OMIM:218040
3265	HRAS	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3265	HRAS	HP:0001763	Pes planus	1/7	OMIM:615777
3265	HRAS	HP:0001780	Abnormal toe morphology	-	OMIM:163200
3265	HRAS	HP:0000418	Narrow nasal ridge	-	OMIM:137550
3265	HRAS	HP:0001762	Talipes equinovarus	-	OMIM:218040
3265	HRAS	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:109800
3265	HRAS	HP:0006731	Follicular thyroid carcinoma	-	OMIM:188470
3265	HRAS	HP:0030409	Renal transitional cell carcinoma	HP:0040284	ORPHA:2874
3265	HRAS	HP:0001840	Metatarsus adductus	-	OMIM:615777
3265	HRAS	HP:0000520	Proptosis	2/4	OMIM:131300
3265	HRAS	HP:0000520	Proptosis	7/7	OMIM:615777
3265	HRAS	HP:0000506	Telecanthus	HP:0040281	ORPHA:2612
3265	HRAS	HP:0000509	Conjunctivitis	-	OMIM:153400
3265	HRAS	HP:0000508	Ptosis	2/39	OMIM:153400
3265	HRAS	HP:0000508	Ptosis	-	OMIM:218040
3265	HRAS	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:2612
3265	HRAS	HP:0000501	Glaucoma	HP:0040284	ORPHA:2874
3265	HRAS	HP:0001808	Fragile nails	-	OMIM:218040
3265	HRAS	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:3071
3265	HRAS	HP:0001816	Thin nail	-	OMIM:218040
3265	HRAS	HP:0001814	Deep-set nails	HP:0040281	ORPHA:3071
3265	HRAS	HP:0001814	Deep-set nails	-	OMIM:218040
3265	HRAS	HP:0012583	Unilateral renal hypoplasia	HP:0040284	ORPHA:2874
3265	HRAS	HP:0000592	Blue sclerae	2/7	OMIM:615777
3265	HRAS	HP:0000589	Coloboma	-	OMIM:163200
3265	HRAS	HP:0000589	Coloboma	HP:0040284	ORPHA:2874
3265	HRAS	HP:0000563	Keratoconus	HP:0040282	ORPHA:3071
3265	HRAS	HP:0011220	Prominent forehead	-	OMIM:137550
3265	HRAS	HP:0000568	Microphthalmia	HP:0040281	ORPHA:2612
3265	HRAS	HP:0000568	Microphthalmia	1/6	OMIM:153400
3265	HRAS	HP:0001869	Deep plantar creases	-	OMIM:218040
3265	HRAS	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3265	HRAS	HP:0012514	Lower limb pain	4/4	OMIM:131300
3273	HRG	HP:0000006	Autosomal dominant inheritance	-	OMIM:613116
3273	HRG	HP:0003581	Adult onset	1/1	OMIM:613116
3273	HRG	HP:0100724	Hypercoagulability	-	OMIM:613116
3273	HRG	HP:0004831	Recurrent thromboembolism	-	OMIM:613116
3273	HRG	HP:0001977	Abnormal thrombosis	-	OMIM:613116
3273	HRG	HP:0040227	Decreased level of histidine-rich glycoprotein	1/1	OMIM:613116
3284	HSD3B2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:90791
3284	HSD3B2	HP:0008730	Female external genitalia in individual with 46,XY karyotype	HP:0040283	ORPHA:90791
3284	HSD3B2	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:90791
3284	HSD3B2	HP:0008707	Absent scrotum	-	OMIM:201810
3284	HSD3B2	HP:0031078	Impaired cortisol response to corticotropin releasing hormone stimulation test	2/3	OMIM:201810
3284	HSD3B2	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0025380	Increased circulating androstenedione concentration	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0000062	Ambiguous genitalia	-	OMIM:201810
3284	HSD3B2	HP:0000061	Ambiguous genitalia, female	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0012041	Decreased fertility in males	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0033809	Increased circulating 17 hydroxypregnenolone concentration	3/6	OMIM:201810
3284	HSD3B2	HP:0000037	Male pseudohermaphroditism	-	OMIM:201810
3284	HSD3B2	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:90791
3284	HSD3B2	HP:0000054	Micropenis	1/4	OMIM:201810
3284	HSD3B2	HP:0000051	Perineal hypospadias	1/4	OMIM:201810
3284	HSD3B2	HP:0000048	Bifid scrotum	1/4	OMIM:201810
3284	HSD3B2	HP:0000047	Hypospadias	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0000047	Hypospadias	-	OMIM:201810
3284	HSD3B2	HP:0000033	Ambiguous genitalia, male	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:90791
3284	HSD3B2	HP:0000028	Cryptorchidism	2/4	OMIM:201810
3284	HSD3B2	HP:0000027	Azoospermia	HP:0040283	ORPHA:90791
3284	HSD3B2	HP:0000007	Autosomal recessive inheritance	-	OMIM:201810
3284	HSD3B2	HP:0002615	Hypotension	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0000127	Renal salt wasting	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0031213	Elevated circulating 17-hydroxyprogesterone concentration	4/4	OMIM:201810
3284	HSD3B2	HP:0031213	Elevated circulating 17-hydroxyprogesterone concentration	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0002013	Vomiting	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0011749	Adrenocorticotropic hormone excess	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0008163	Decreased circulating cortisol level	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0002153	Hyperkalemia	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0002153	Hyperkalemia	3/4	OMIM:201810
3284	HSD3B2	HP:0008258	Congenital adrenal hyperplasia	HP:0040281	ORPHA:90791
3284	HSD3B2	HP:0008221	Adrenal hyperplasia	-	OMIM:201810
3284	HSD3B2	HP:0034589	Increased circulating dehydroepiandrosterone-sulfate concentration	3/3	OMIM:201810
3284	HSD3B2	HP:0003577	Congenital onset	4/4	OMIM:201810
3284	HSD3B2	HP:0001007	Hirsutism	HP:0040283	ORPHA:90791
3284	HSD3B2	HP:0001944	Dehydration	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0001998	Neonatal hypoglycemia	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0004319	Decreased circulating aldosterone concentration	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0000808	Penoscrotal hypospadias	1/4	OMIM:201810
3284	HSD3B2	HP:0000808	Penoscrotal hypospadias	HP:0040283	ORPHA:90791
3284	HSD3B2	HP:0000771	Gynecomastia	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0012768	Neonatal asphyxia	HP:0040283	ORPHA:90791
3284	HSD3B2	HP:0012853	Scrotal hypospadias	1/4	OMIM:201810
3284	HSD3B2	HP:0000848	Increased circulating renin concentration	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0000846	Adrenal insufficiency	1/4	OMIM:201810
3284	HSD3B2	HP:0012881	Abnormal labia majora morphology	HP:0040283	ORPHA:90791
3284	HSD3B2	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0040171	Decreased serum testosterone concentration	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0030088	Increased serum testosterone level	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0001508	Failure to thrive	HP:0040283	ORPHA:90791
3284	HSD3B2	HP:0002902	Hyponatremia	HP:0040282	ORPHA:90791
3284	HSD3B2	HP:0002902	Hyponatremia	3/4	OMIM:201810
3284	HSD3B2	HP:0030260	Microphallus	1/4	OMIM:201810
3284	HSD3B2	HP:0012411	Premature pubarche	-	OMIM:201810
3284	HSD3B2	HP:0012412	Premature adrenarche	HP:0040283	ORPHA:90791
3290	HSD11B1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614662
3290	HSD11B1	HP:6000185	Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio	2/2	OMIM:614662
3290	HSD11B1	HP:0003621	Juvenile onset	2/2	OMIM:614662
3290	HSD11B1	HP:6001080	Reduced urine tetrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio	2/2	OMIM:614662
3290	HSD11B1	HP:0005616	Accelerated skeletal maturation	1/2	OMIM:614662
3290	HSD11B1	HP:0000855	Insulin resistance	1/2	OMIM:614662
3290	HSD11B1	HP:0000956	Acanthosis nigricans	1/2	OMIM:614662
3290	HSD11B1	HP:0001513	Obesity	1/2	OMIM:614662
3290	HSD11B1	HP:0012411	Premature pubarche	1/2	OMIM:614662
3291	HSD11B2	HP:0001297	Stroke	HP:0040283	ORPHA:320
3291	HSD11B2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:320
3291	HSD11B2	HP:0000007	Autosomal recessive inheritance	-	OMIM:218030
3291	HSD11B2	HP:0000121	Nephrocalcinosis	HP:0040282	ORPHA:320
3291	HSD11B2	HP:0003351	Decreased circulating renin concentration	HP:0040281	ORPHA:320
3291	HSD11B2	HP:0003351	Decreased circulating renin concentration	-	OMIM:218030
3291	HSD11B2	HP:0011731	Abnormality of circulating cortisol level	HP:0040282	ORPHA:320
3291	HSD11B2	HP:0200114	Metabolic alkalosis	-	OMIM:218030
3291	HSD11B2	HP:0001095	Hypertensive retinopathy	HP:0040283	ORPHA:320
3291	HSD11B2	HP:0001095	Hypertensive retinopathy	-	OMIM:218030
3291	HSD11B2	HP:0012606	Renal sodium wasting	-	ORPHA:320
3291	HSD11B2	HP:0012603	Abnormal urine sodium concentration	HP:0040282	ORPHA:320
3291	HSD11B2	HP:0001960	Hypokalemic metabolic alkalosis	HP:0040282	ORPHA:320
3291	HSD11B2	HP:0001959	Polydipsia	HP:0040282	ORPHA:320
3291	HSD11B2	HP:0004322	Short stature	HP:0040282	ORPHA:320
3291	HSD11B2	HP:0004322	Short stature	-	OMIM:218030
3291	HSD11B2	HP:0004319	Decreased circulating aldosterone concentration	-	OMIM:218030
3291	HSD11B2	HP:0004319	Decreased circulating aldosterone concentration	HP:0040282	ORPHA:320
3291	HSD11B2	HP:0011463	Childhood onset	-	OMIM:218030
3291	HSD11B2	HP:0000822	Hypertension	HP:0040281	ORPHA:320
3291	HSD11B2	HP:0000822	Hypertension	9/9	OMIM:218030
3291	HSD11B2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:320
3291	HSD11B2	HP:0001508	Failure to thrive	-	OMIM:218030
3291	HSD11B2	HP:0001518	Small for gestational age	-	OMIM:218030
3291	HSD11B2	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:320
3291	HSD11B2	HP:0001510	Growth delay	-	OMIM:218030
3291	HSD11B2	HP:0002900	Hypokalemia	-	OMIM:218030
3291	HSD11B2	HP:0002900	Hypokalemia	HP:0040281	ORPHA:320
3291	HSD11B2	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:320
3293	HSD17B3	HP:0008730	Female external genitalia in individual with 46,XY karyotype	15/18	OMIM:264300
3293	HSD17B3	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:752
3293	HSD17B3	HP:0008665	Clitoral hypertrophy	HP:0040281	ORPHA:752
3293	HSD17B3	HP:0025380	Increased circulating androstenedione concentration	HP:0040282	ORPHA:752
3293	HSD17B3	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:752
3293	HSD17B3	HP:0000037	Male pseudohermaphroditism	HP:0040281	ORPHA:752
3293	HSD17B3	HP:0000037	Male pseudohermaphroditism	-	OMIM:264300
3293	HSD17B3	HP:0000048	Bifid scrotum	HP:0040283	ORPHA:752
3293	HSD17B3	HP:0000047	Hypospadias	HP:0040281	ORPHA:752
3293	HSD17B3	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:752
3293	HSD17B3	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:752
3293	HSD17B3	HP:0000007	Autosomal recessive inheritance	-	OMIM:264300
3293	HSD17B3	HP:0100779	Urogenital sinus anomaly	HP:0040282	ORPHA:752
3293	HSD17B3	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:264300
3293	HSD17B3	HP:0000771	Gynecomastia	-	OMIM:264300
3293	HSD17B3	HP:0000771	Gynecomastia	HP:0040283	ORPHA:752
3293	HSD17B3	HP:0000789	Infertility	HP:0040281	ORPHA:752
3293	HSD17B3	HP:0000789	Infertility	-	OMIM:264300
3293	HSD17B3	HP:0000821	Hypothyroidism	-	OMIM:264300
3295	HSD17B4	HP:0001171	Split hand	-	OMIM:261515
3295	HSD17B4	HP:0007266	Cerebral dysmyelination	4/11	OMIM:261515
3295	HSD17B4	HP:0001272	Cerebellar atrophy	8/49	OMIM:261515
3295	HSD17B4	HP:0001272	Cerebellar atrophy	1/2	OMIM:233400
3295	HSD17B4	HP:0001270	Motor delay	HP:0040283	OMIM:233400
3295	HSD17B4	HP:0001284	Areflexia	HP:0040283	OMIM:233400
3295	HSD17B4	HP:0001256	Intellectual disability, mild	2/2	OMIM:233400
3295	HSD17B4	HP:0001250	Seizure	79/85	OMIM:261515
3295	HSD17B4	HP:0001252	Hypotonia	2/2	OMIM:261515
3295	HSD17B4	HP:0001251	Ataxia	1/2	OMIM:233400
3295	HSD17B4	HP:0001265	Hyporeflexia	HP:0040283	OMIM:233400
3295	HSD17B4	HP:0001264	Spastic diplegia	HP:0040283	OMIM:233400
3295	HSD17B4	HP:0001260	Dysarthria	1/2	OMIM:233400
3295	HSD17B4	HP:0001263	Global developmental delay	126/126	OMIM:261515
3295	HSD17B4	HP:0007371	Corpus callosum atrophy	-	OMIM:261515
3295	HSD17B4	HP:0002539	Cortical dysplasia	-	OMIM:261515
3295	HSD17B4	HP:0033643	Increased circulating very long-chain fatty acid concentration	1/1	OMIM:261515
3295	HSD17B4	HP:0001397	Hepatic steatosis	5/23	OMIM:261515
3295	HSD17B4	HP:0001396	Cholestasis	2/23	OMIM:261515
3295	HSD17B4	HP:0008872	Feeding difficulties in infancy	-	OMIM:261515
3295	HSD17B4	HP:0000007	Autosomal recessive inheritance	-	OMIM:261515
3295	HSD17B4	HP:0000007	Autosomal recessive inheritance	-	OMIM:233400
3295	HSD17B4	HP:0002650	Scoliosis	-	OMIM:233400
3295	HSD17B4	HP:0001319	Neonatal hypotonia	83/85	OMIM:261515
3295	HSD17B4	HP:0000133	Gonadal dysgenesis	2/2	OMIM:233400
3295	HSD17B4	HP:0000107	Renal cyst	4/12	OMIM:261515
3295	HSD17B4	HP:0001408	Bile duct proliferation	2/23	OMIM:261515
3295	HSD17B4	HP:0002750	Delayed skeletal maturation	-	OMIM:261515
3295	HSD17B4	HP:0002007	Frontal bossing	1/2	OMIM:261515
3295	HSD17B4	HP:0002080	Intention tremor	1/2	OMIM:233400
3295	HSD17B4	HP:0002069	Bilateral tonic-clonic seizure	2/2	OMIM:261515
3295	HSD17B4	HP:0002066	Gait ataxia	-	OMIM:233400
3295	HSD17B4	HP:0002079	Hypoplasia of the corpus callosum	6/11	OMIM:261515
3295	HSD17B4	HP:0008167	Very long chain fatty acid accumulation	2/2	OMIM:261515
3295	HSD17B4	HP:0002119	Ventriculomegaly	16/53	OMIM:261515
3295	HSD17B4	HP:0002126	Polymicrogyria	7/11	OMIM:261515
3295	HSD17B4	HP:0002171	Gliosis	-	OMIM:261515
3295	HSD17B4	HP:0008207	Primary adrenal insufficiency	1/2	OMIM:261515
3295	HSD17B4	HP:0002240	Hepatomegaly	32/73	OMIM:261515
3295	HSD17B4	HP:0007141	Sensorimotor neuropathy	2/2	OMIM:233400
3295	HSD17B4	HP:0003623	Neonatal onset	2/2	OMIM:261515
3295	HSD17B4	HP:0006872	Cerebral hypoplasia	5/11	OMIM:261515
3295	HSD17B4	HP:0000639	Nystagmus	40/73	OMIM:261515
3295	HSD17B4	HP:0000639	Nystagmus	-	OMIM:233400
3295	HSD17B4	HP:0004322	Short stature	2/2	OMIM:233400
3295	HSD17B4	HP:0000767	Pectus excavatum	1/2	OMIM:261515
3295	HSD17B4	HP:0000762	Decreased nerve conduction velocity	16/24	OMIM:261515
3295	HSD17B4	HP:0000786	Primary amenorrhea	-	OMIM:233400
3295	HSD17B4	HP:0030799	Scaphocephaly	11/12	OMIM:261515
3295	HSD17B4	HP:0003199	Decreased muscle mass	-	OMIM:261515
3295	HSD17B4	HP:0000837	Increased circulating gonadotropin level	-	OMIM:233400
3295	HSD17B4	HP:0000939	Osteoporosis	-	OMIM:233400
3295	HSD17B4	HP:0000938	Osteopenia	-	OMIM:261515
3295	HSD17B4	HP:0033044	Motor regression	7/61	OMIM:261515
3295	HSD17B4	HP:0000286	Epicanthus	52/77	OMIM:261515
3295	HSD17B4	HP:0000278	Retrognathia	52/77	OMIM:261515
3295	HSD17B4	HP:0000256	Macrocephaly	52/77	OMIM:261515
3295	HSD17B4	HP:0000270	Delayed cranial suture closure	1/2	OMIM:261515
3295	HSD17B4	HP:0000268	Dolichocephaly	-	OMIM:261515
3295	HSD17B4	HP:0000239	Large fontanelles	-	OMIM:261515
3295	HSD17B4	HP:0000218	High palate	1/2	OMIM:261515
3295	HSD17B4	HP:0000218	High palate	-	OMIM:233400
3295	HSD17B4	HP:0001561	Polyhydramnios	-	OMIM:261515
3295	HSD17B4	HP:0001508	Failure to thrive	27/61	OMIM:261515
3295	HSD17B4	HP:0002832	Calcific stippling	12/12	OMIM:261515
3295	HSD17B4	HP:0005257	Thoracic hypoplasia	-	OMIM:261515
3295	HSD17B4	HP:0002910	Elevated circulating hepatic transaminase concentration	2/2	OMIM:261515
3295	HSD17B4	HP:0000365	Hearing impairment	29/64	OMIM:261515
3295	HSD17B4	HP:0000369	Low-set ears	52/77	OMIM:261515
3295	HSD17B4	HP:0000343	Long philtrum	52/77	OMIM:261515
3295	HSD17B4	HP:0000348	High forehead	52/77	OMIM:261515
3295	HSD17B4	HP:0000347	Micrognathia	1/2	OMIM:261515
3295	HSD17B4	HP:0000316	Hypertelorism	52/77	OMIM:261515
3295	HSD17B4	HP:0007941	Limited extraocular movements	-	OMIM:233400
3295	HSD17B4	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:233400
3295	HSD17B4	HP:0005280	Depressed nasal bridge	1/2	OMIM:261515
3295	HSD17B4	HP:0000486	Strabismus	40/73	OMIM:261515
3295	HSD17B4	HP:0001791	Fetal ascites	-	OMIM:261515
3295	HSD17B4	HP:0001765	Hammertoe	-	OMIM:261515
3295	HSD17B4	HP:0001744	Splenomegaly	4/67	OMIM:261515
3295	HSD17B4	HP:0001762	Talipes equinovarus	1/2	OMIM:261515
3295	HSD17B4	HP:0001762	Talipes equinovarus	-	OMIM:233400
3295	HSD17B4	HP:0001761	Pes cavus	-	OMIM:233400
3295	HSD17B4	HP:0000582	Upslanted palpebral fissure	1/2	OMIM:261515
3295	HSD17B4	HP:0000572	Visual loss	21/61	OMIM:261515
3295	HSD17B4	HP:0000550	Undetectable electroretinogram	17/22	OMIM:261515
3299	HSF4	HP:0001134	Anterior polar cataract	-	OMIM:116800
3299	HSF4	HP:0010920	Zonular cataract	-	OMIM:116800
3299	HSF4	HP:0000006	Autosomal dominant inheritance	-	OMIM:116800
3299	HSF4	HP:0010693	Pulverulent cataract	-	OMIM:116800
3299	HSF4	HP:0100018	Nuclear cataract	-	OMIM:116800
3299	HSF4	HP:0007971	Lamellar cataract	-	OMIM:116800
3300	DNAJB2	HP:0002460	Distal muscle weakness	3/3	OMIM:614881
3300	DNAJB2	HP:0007269	Spinal muscular atrophy	-	OMIM:614881
3300	DNAJB2	HP:0001288	Gait disturbance	3/3	OMIM:614881
3300	DNAJB2	HP:0001284	Areflexia	3/3	OMIM:614881
3300	DNAJB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614881
3300	DNAJB2	HP:0008944	Distal lower limb amyotrophy	3/3	OMIM:614881
3300	DNAJB2	HP:0003677	Slowly progressive	-	OMIM:614881
3300	DNAJB2	HP:0009027	Foot dorsiflexor weakness	3/3	OMIM:614881
3300	DNAJB2	HP:0011462	Young adult onset	3/3	OMIM:614881
3300	DNAJB2	HP:0002936	Distal sensory impairment	0/3	OMIM:614881
3300	DNAJB2	HP:0001618	Dysphonia	1/3	OMIM:614881
3300	DNAJB2	HP:0001761	Pes cavus	1/3	OMIM:614881
3313	HSPA9	HP:0008551	Microtia	3/3	OMIM:616854
3313	HSPA9	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3313	HSPA9	HP:0001293	Cranial nerve compression	-	OMIM:131300
3313	HSPA9	HP:0001274	Agenesis of corpus callosum	-	OMIM:616854
3313	HSPA9	HP:0001252	Hypotonia	2/7	OMIM:615777
3313	HSPA9	HP:0001249	Intellectual disability	5/7	OMIM:615777
3313	HSPA9	HP:0001263	Global developmental delay	1/3	OMIM:616854
3313	HSPA9	HP:0001263	Global developmental delay	-	OMIM:615777
3313	HSPA9	HP:0002553	Highly arched eyebrow	-	OMIM:616854
3313	HSPA9	HP:0002515	Waddling gait	54/102	OMIM:131300
3313	HSPA9	HP:0000089	Renal hypoplasia	-	OMIM:616854
3313	HSPA9	HP:0000076	Vesicoureteral reflux	1/3	OMIM:616854
3313	HSPA9	HP:0001382	Joint hypermobility	-	OMIM:615777
3313	HSPA9	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3313	HSPA9	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3313	HSPA9	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3313	HSPA9	HP:0002656	Epiphyseal dysplasia	-	OMIM:616854
3313	HSPA9	HP:0001324	Muscle weakness	40/96	OMIM:131300
3313	HSPA9	HP:0000010	Recurrent urinary tract infections	-	OMIM:616854
3313	HSPA9	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3313	HSPA9	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3313	HSPA9	HP:0000007	Autosomal recessive inheritance	-	OMIM:616854
3313	HSPA9	HP:0000006	Autosomal dominant inheritance	-	OMIM:182170
3313	HSPA9	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3313	HSPA9	HP:0002650	Scoliosis	12/14	OMIM:131300
3313	HSPA9	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3313	HSPA9	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3313	HSPA9	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3313	HSPA9	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3313	HSPA9	HP:0000175	Cleft palate	2/7	OMIM:615777
3313	HSPA9	HP:0002023	Anal atresia	2/3	OMIM:616854
3313	HSPA9	HP:0011800	Midface retrusion	-	OMIM:616854
3313	HSPA9	HP:0003388	Easy fatigability	36/76	OMIM:131300
3313	HSPA9	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3313	HSPA9	HP:0003417	Coronal cleft vertebrae	3/3	OMIM:616854
3313	HSPA9	HP:0010575	Dysplasia of the femoral head	-	OMIM:616854
3313	HSPA9	HP:0003510	Severe short stature	-	OMIM:616854
3313	HSPA9	HP:0003510	Severe short stature	7/7	OMIM:615777
3313	HSPA9	HP:0004828	Refractory anemia with ringed sideroblasts	-	OMIM:182170
3313	HSPA9	HP:0001057	Aplasia cutis congenita	2/3	OMIM:616854
3313	HSPA9	HP:0001047	Atopic dermatitis	-	OMIM:616854
3313	HSPA9	HP:0002315	Headache	-	OMIM:131300
3313	HSPA9	HP:0004976	Knee dislocation	6/7	OMIM:615777
3313	HSPA9	HP:0009803	Short phalanx of finger	-	OMIM:615777
3313	HSPA9	HP:0009763	Limb pain	63/92	OMIM:131300
3313	HSPA9	HP:0008428	Vertebral clefting	-	OMIM:616854
3313	HSPA9	HP:0003621	Juvenile onset	-	OMIM:131300
3313	HSPA9	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3313	HSPA9	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3313	HSPA9	HP:6001056	Out-toeing	-	OMIM:131300
3313	HSPA9	HP:0000651	Diplopia	-	OMIM:131300
3313	HSPA9	HP:0001956	Truncal obesity	2/7	OMIM:615777
3313	HSPA9	HP:0001924	Sideroblastic anemia	-	OMIM:182170
3313	HSPA9	HP:0001903	Anemia	HP:0040283	OMIM:131300
3313	HSPA9	HP:0010049	Short metacarpal	-	OMIM:615777
3313	HSPA9	HP:0000678	Dental crowding	-	OMIM:615777
3313	HSPA9	HP:0000670	Carious teeth	-	OMIM:131300
3313	HSPA9	HP:0011304	Broad thumb	2/7	OMIM:615777
3313	HSPA9	HP:0000668	Hypodontia	-	OMIM:616854
3313	HSPA9	HP:0000668	Hypodontia	-	OMIM:615777
3313	HSPA9	HP:0000664	Synophrys	3/3	OMIM:616854
3313	HSPA9	HP:0000664	Synophrys	-	OMIM:615777
3313	HSPA9	HP:0006989	Dysplastic corpus callosum	1/3	OMIM:616854
3313	HSPA9	HP:0004396	Poor appetite	-	OMIM:131300
3313	HSPA9	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3313	HSPA9	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3313	HSPA9	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3313	HSPA9	HP:0003026	Short long bone	7/7	OMIM:615777
3313	HSPA9	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3313	HSPA9	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3313	HSPA9	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3313	HSPA9	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3313	HSPA9	HP:0000750	Delayed speech and language development	-	OMIM:615777
3313	HSPA9	HP:0011461	Fetal onset	7/7	OMIM:615777
3313	HSPA9	HP:0000774	Narrow chest	2/7	OMIM:615777
3313	HSPA9	HP:0003196	Short nose	-	OMIM:616854
3313	HSPA9	HP:0000926	Platyspondyly	1/7	OMIM:615777
3313	HSPA9	HP:0003180	Flat acetabular roof	-	OMIM:615777
3313	HSPA9	HP:0004482	Relative macrocephaly	-	OMIM:615777
3313	HSPA9	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3313	HSPA9	HP:0000823	Delayed puberty	-	OMIM:131300
3313	HSPA9	HP:0000894	Short clavicles	-	OMIM:615777
3313	HSPA9	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3313	HSPA9	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3313	HSPA9	HP:0008070	Sparse hair	-	OMIM:616854
3313	HSPA9	HP:0000286	Epicanthus	1/7	OMIM:615777
3313	HSPA9	HP:0000280	Coarse facial features	2/7	OMIM:615777
3313	HSPA9	HP:0002827	Hip dislocation	3/7	OMIM:615777
3313	HSPA9	HP:0000252	Microcephaly	-	OMIM:615777
3313	HSPA9	HP:0000248	Brachycephaly	1/3	OMIM:616854
3313	HSPA9	HP:0000218	High palate	-	OMIM:616854
3313	HSPA9	HP:0001562	Oligohydramnios	-	OMIM:616854
3313	HSPA9	HP:0002857	Genu valgum	-	OMIM:131300
3313	HSPA9	HP:0001533	Slender build	-	OMIM:131300
3313	HSPA9	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3313	HSPA9	HP:0007807	Optic nerve compression	-	OMIM:131300
3313	HSPA9	HP:0012368	Flat face	7/7	OMIM:615777
3313	HSPA9	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3313	HSPA9	HP:0000365	Hearing impairment	10/67	OMIM:131300
3313	HSPA9	HP:0000343	Long philtrum	1/7	OMIM:615777
3313	HSPA9	HP:0011001	Increased bone mineral density	-	OMIM:131300
3313	HSPA9	HP:0000311	Round face	2/7	OMIM:615777
3313	HSPA9	HP:0001655	Patent foramen ovale	1/3	OMIM:616854
3313	HSPA9	HP:0002970	Genu varum	-	OMIM:615777
3313	HSPA9	HP:0001631	Atrial septal defect	2/3	OMIM:616854
3313	HSPA9	HP:0000303	Mandibular prognathia	-	OMIM:131300
3313	HSPA9	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3313	HSPA9	HP:0000457	Depressed nasal ridge	3/3	OMIM:616854
3313	HSPA9	HP:0000456	Bifid nasal tip	3/3	OMIM:616854
3313	HSPA9	HP:0000470	Short neck	-	OMIM:616854
3313	HSPA9	HP:0000470	Short neck	1/7	OMIM:615777
3313	HSPA9	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3313	HSPA9	HP:0001763	Pes planus	1/7	OMIM:615777
3313	HSPA9	HP:0000518	Cataract	0/3	OMIM:616854
3313	HSPA9	HP:0001840	Metatarsus adductus	-	OMIM:615777
3313	HSPA9	HP:0000520	Proptosis	2/4	OMIM:131300
3313	HSPA9	HP:0000520	Proptosis	7/7	OMIM:615777
3313	HSPA9	HP:0000592	Blue sclerae	2/7	OMIM:615777
3313	HSPA9	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3313	HSPA9	HP:0012514	Lower limb pain	4/4	OMIM:131300
3313	HSPA9	HP:0001877	Abnormal erythrocyte morphology	-	OMIM:182170
3315	HSPB1	HP:0001178	Ulnar claw	-	OMIM:606595
3315	HSPB1	HP:0002460	Distal muscle weakness	7/7	OMIM:606595
3315	HSPB1	HP:0007328	Impaired pain sensation	HP:0040281	ORPHA:99940
3315	HSPB1	HP:0007289	Limb fasciculations	HP:0040281	ORPHA:99940
3315	HSPB1	HP:0007267	Chronic axonal neuropathy	-	OMIM:606595
3315	HSPB1	HP:0001288	Gait disturbance	-	OMIM:608634
3315	HSPB1	HP:0007340	Lower limb muscle weakness	HP:0040281	ORPHA:99940
3315	HSPB1	HP:0002522	Areflexia of lower limbs	-	OMIM:608634
3315	HSPB1	HP:0002522	Areflexia of lower limbs	6/7	OMIM:606595
3315	HSPB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:608634
3315	HSPB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:606595
3315	HSPB1	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:99940
3315	HSPB1	HP:0002601	Paresis of extensor muscles of the big toe	-	OMIM:608634
3315	HSPB1	HP:0002600	Hyporeflexia of lower limbs	-	OMIM:608634
3315	HSPB1	HP:0008944	Distal lower limb amyotrophy	7/7	OMIM:606595
3315	HSPB1	HP:0008944	Distal lower limb amyotrophy	HP:0040281	ORPHA:99940
3315	HSPB1	HP:0003394	Muscle spasm	1/7	OMIM:606595
3315	HSPB1	HP:0003376	Steppage gait	-	OMIM:606595
3315	HSPB1	HP:0003376	Steppage gait	HP:0040281	ORPHA:99940
3315	HSPB1	HP:0003477	Peripheral axonal neuropathy	HP:0040281	ORPHA:99940
3315	HSPB1	HP:0003470	Paralysis	-	OMIM:608634
3315	HSPB1	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:606595
3315	HSPB1	HP:0003444	EMG: chronic denervation signs	HP:0040281	ORPHA:99940
3315	HSPB1	HP:0003445	EMG: neuropathic changes	-	OMIM:608634
3315	HSPB1	HP:0003445	EMG: neuropathic changes	HP:0040281	ORPHA:99940
3315	HSPB1	HP:0003596	Middle age onset	4/7	OMIM:606595
3315	HSPB1	HP:0003584	Late onset	1/7	OMIM:606595
3315	HSPB1	HP:0003581	Adult onset	-	OMIM:608634
3315	HSPB1	HP:0002380	Fasciculations	1/7	OMIM:606595
3315	HSPB1	HP:0003677	Slowly progressive	-	OMIM:608634
3315	HSPB1	HP:0010829	Impaired temperature sensation	HP:0040281	ORPHA:99940
3315	HSPB1	HP:0009830	Peripheral neuropathy	-	OMIM:608634
3315	HSPB1	HP:0009053	Distal lower limb muscle weakness	-	OMIM:608634
3315	HSPB1	HP:0009027	Foot dorsiflexor weakness	-	OMIM:606595
3315	HSPB1	HP:0009129	Upper limb amyotrophy	7/7	OMIM:606595
3315	HSPB1	HP:0009129	Upper limb amyotrophy	HP:0040281	ORPHA:99940
3315	HSPB1	HP:0034337	Claw hand deformity	3/7	OMIM:606595
3315	HSPB1	HP:0012391	Hyporeflexia of upper limbs	4/7	OMIM:606595
3315	HSPB1	HP:0002936	Distal sensory impairment	-	OMIM:606595
3315	HSPB1	HP:0025710	Late young adult onset	2/7	OMIM:606595
3315	HSPB1	HP:0001762	Talipes equinovarus	HP:0040281	ORPHA:99940
3315	HSPB1	HP:0001761	Pes cavus	6/7	OMIM:606595
3321	IGSF3	HP:0009926	Epiphora	4/4	OMIM:149700
3321	IGSF3	HP:0000007	Autosomal recessive inheritance	-	OMIM:149700
3321	IGSF3	HP:0100539	Periorbital edema	HP:0040283	OMIM:149700
3321	IGSF3	HP:0000620	Dacryocystitis	HP:0040283	OMIM:149700
3321	IGSF3	HP:0030752	Dacryocystocele	-	OMIM:149700
3321	IGSF3	HP:0000246	Sinusitis	HP:0040283	OMIM:149700
3321	IGSF3	HP:0000509	Conjunctivitis	HP:0040283	OMIM:149700
3321	IGSF3	HP:0000564	Lacrimal duct atresia	-	OMIM:149700
3329	HSPD1	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:100994
3329	HSPD1	HP:0002421	Poor head control	10/10	OMIM:612233
3329	HSPD1	HP:0002415	Leukodystrophy	8/8	OMIM:612233
3329	HSPD1	HP:0002599	Head titubation	10/10	OMIM:612233
3329	HSPD1	HP:0001250	Seizure	6/10	OMIM:612233
3329	HSPD1	HP:0001252	Hypotonia	10/10	OMIM:612233
3329	HSPD1	HP:0001266	Choreoathetosis	-	OMIM:612233
3329	HSPD1	HP:0001263	Global developmental delay	10/10	OMIM:612233
3329	HSPD1	HP:0001258	Spastic paraplegia	-	OMIM:605280
3329	HSPD1	HP:0001258	Spastic paraplegia	HP:0040281	ORPHA:100994
3329	HSPD1	HP:0001258	Spastic paraplegia	10/10	OMIM:612233
3329	HSPD1	HP:0007350	Upper limb hyperreflexia	HP:0040282	ORPHA:100994
3329	HSPD1	HP:0007340	Lower limb muscle weakness	-	OMIM:605280
3329	HSPD1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:100994
3329	HSPD1	HP:0001371	Flexion contracture	-	OMIM:612233
3329	HSPD1	HP:0000020	Urinary incontinence	-	OMIM:605280
3329	HSPD1	HP:0000020	Urinary incontinence	HP:0040282	ORPHA:100994
3329	HSPD1	HP:0001347	Hyperreflexia	-	OMIM:605280
3329	HSPD1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:100994
3329	HSPD1	HP:0001347	Hyperreflexia	10/10	OMIM:612233
3329	HSPD1	HP:0008872	Feeding difficulties in infancy	10/10	OMIM:612233
3329	HSPD1	HP:0000012	Urinary urgency	-	OMIM:605280
3329	HSPD1	HP:0000012	Urinary urgency	HP:0040283	ORPHA:100994
3329	HSPD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612233
3329	HSPD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:605280
3329	HSPD1	HP:0002650	Scoliosis	HP:0040283	ORPHA:100994
3329	HSPD1	HP:0002064	Spastic gait	-	OMIM:605280
3329	HSPD1	HP:0002064	Spastic gait	HP:0040282	ORPHA:100994
3329	HSPD1	HP:0002061	Lower limb spasticity	-	OMIM:605280
3329	HSPD1	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:100994
3329	HSPD1	HP:0003487	Babinski sign	-	OMIM:605280
3329	HSPD1	HP:0003487	Babinski sign	HP:0040282	ORPHA:100994
3329	HSPD1	HP:0003487	Babinski sign	10/10	OMIM:612233
3329	HSPD1	HP:0002151	Increased circulating lactate concentration	4/10	OMIM:612233
3329	HSPD1	HP:0002104	Apnea	6/10	OMIM:612233
3329	HSPD1	HP:0002187	Intellectual disability, profound	-	OMIM:612233
3329	HSPD1	HP:0002191	Progressive spasticity	10/10	OMIM:612233
3329	HSPD1	HP:0002166	Impaired vibration sensation in the lower limbs	-	OMIM:605280
3329	HSPD1	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:100994
3329	HSPD1	HP:0003676	Progressive	-	OMIM:605280
3329	HSPD1	HP:0003623	Neonatal onset	10/10	OMIM:612233
3329	HSPD1	HP:0000639	Nystagmus	9/10	OMIM:612233
3329	HSPD1	HP:0003219	Ethylmalonic aciduria	5/8	OMIM:612233
3329	HSPD1	HP:0002839	Urinary bladder sphincter dysfunction	-	OMIM:605280
3329	HSPD1	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040281	ORPHA:100994
3329	HSPD1	HP:0000365	Hearing impairment	HP:0040284	ORPHA:100994
3329	HSPD1	HP:0000486	Strabismus	10/10	OMIM:612233
3329	HSPD1	HP:0001761	Pes cavus	HP:0040283	ORPHA:100994
3329	HSPD1	HP:0005484	Secondary microcephaly	10/10	OMIM:612233
3329	HSPD1	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:100994
3339	HSPG2	HP:0002486	Myotonia	HP:0040281	ORPHA:800
3339	HSPG2	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0002465	Poor speech	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0001107	Ocular albinism	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0001195	Single umbilical artery	1/2	OMIM:224410
3339	HSPG2	HP:0001195	Single umbilical artery	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0008551	Microtia	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3339	HSPG2	HP:0003731	Quadriceps muscle weakness	2/3	OMIM:255800
3339	HSPG2	HP:0003712	Skeletal muscle hypertrophy	2/3	OMIM:255800
3339	HSPG2	HP:0003712	Skeletal muscle hypertrophy	HP:0040282	ORPHA:800
3339	HSPG2	HP:0001293	Cranial nerve compression	-	OMIM:131300
3339	HSPG2	HP:0100813	Testicular torsion	HP:0040283	ORPHA:800
3339	HSPG2	HP:0001276	Hypertonia	HP:0040281	ORPHA:800
3339	HSPG2	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:800
3339	HSPG2	HP:0001250	Seizure	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0001252	Hypotonia	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0001252	Hypotonia	2/7	OMIM:615777
3339	HSPG2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:800
3339	HSPG2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0001249	Intellectual disability	-	OMIM:255800
3339	HSPG2	HP:0001249	Intellectual disability	5/7	OMIM:615777
3339	HSPG2	HP:0001265	Hyporeflexia	-	OMIM:255800
3339	HSPG2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:800
3339	HSPG2	HP:0002591	Polyphagia	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0001263	Global developmental delay	-	OMIM:615777
3339	HSPG2	HP:0001239	Wrist flexion contracture	-	OMIM:255800
3339	HSPG2	HP:0001239	Wrist flexion contracture	HP:0040282	ORPHA:800
3339	HSPG2	HP:0008734	Decreased testicular size	-	OMIM:255800
3339	HSPG2	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:800
3339	HSPG2	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:800
3339	HSPG2	HP:0002515	Waddling gait	54/102	OMIM:131300
3339	HSPG2	HP:0002515	Waddling gait	1/3	OMIM:255800
3339	HSPG2	HP:0003811	Neonatal death	1/1	OMIM:224410
3339	HSPG2	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:800
3339	HSPG2	HP:0000069	Abnormality of the ureter	HP:0040283	ORPHA:800
3339	HSPG2	HP:0001374	Congenital hip dislocation	-	OMIM:255800
3339	HSPG2	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:1865
3339	HSPG2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0000055	Abnormal female external genitalia morphology	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0001385	Hip dysplasia	HP:0040281	ORPHA:800
3339	HSPG2	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0001387	Joint stiffness	HP:0040281	ORPHA:800
3339	HSPG2	HP:0001382	Joint hypermobility	-	OMIM:615777
3339	HSPG2	HP:0000047	Hypospadias	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0000023	Inguinal hernia	-	OMIM:255800
3339	HSPG2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:800
3339	HSPG2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3339	HSPG2	HP:0001362	Calvarial skull defect	1/2	OMIM:224410
3339	HSPG2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0000028	Cryptorchidism	1/2	OMIM:224410
3339	HSPG2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3339	HSPG2	HP:0008873	Disproportionate short-limb short stature	2/2	OMIM:224410
3339	HSPG2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:800
3339	HSPG2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3339	HSPG2	HP:0001324	Muscle weakness	-	OMIM:255800
3339	HSPG2	HP:0001324	Muscle weakness	40/96	OMIM:131300
3339	HSPG2	HP:0001324	Muscle weakness	HP:0040283	ORPHA:800
3339	HSPG2	HP:0001344	Absent speech	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3339	HSPG2	HP:0002673	Coxa valga	-	OMIM:255800
3339	HSPG2	HP:0002673	Coxa valga	HP:0040282	ORPHA:800
3339	HSPG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3339	HSPG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:224410
3339	HSPG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:255800
3339	HSPG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3339	HSPG2	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:800
3339	HSPG2	HP:0002650	Scoliosis	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0002650	Scoliosis	10/18	OMIM:255800
3339	HSPG2	HP:0002650	Scoliosis	HP:0040282	ORPHA:800
3339	HSPG2	HP:0002650	Scoliosis	12/14	OMIM:131300
3339	HSPG2	HP:0002645	Wormian bones	HP:0040283	ORPHA:800
3339	HSPG2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3339	HSPG2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3339	HSPG2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3339	HSPG2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3339	HSPG2	HP:0000160	Narrow mouth	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0000160	Narrow mouth	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0000160	Narrow mouth	1/2	OMIM:224410
3339	HSPG2	HP:0000160	Narrow mouth	1/3	OMIM:255800
3339	HSPG2	HP:0000160	Narrow mouth	HP:0040281	ORPHA:800
3339	HSPG2	HP:0000175	Cleft palate	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0000175	Cleft palate	HP:0040283	ORPHA:800
3339	HSPG2	HP:0000175	Cleft palate	2/7	OMIM:615777
3339	HSPG2	HP:0000135	Hypogonadism	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0032548	Increased placental thickness	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0000107	Renal cyst	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0002751	Kyphoscoliosis	2/21	OMIM:255800
3339	HSPG2	HP:0002750	Delayed skeletal maturation	-	OMIM:255800
3339	HSPG2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:800
3339	HSPG2	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0002019	Constipation	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0002002	Deep philtrum	1/3	OMIM:255800
3339	HSPG2	HP:0003326	Myalgia	HP:0040283	ORPHA:800
3339	HSPG2	HP:0002015	Dysphagia	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:800
3339	HSPG2	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:800
3339	HSPG2	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0002089	Pulmonary hypoplasia	2/2	OMIM:224410
3339	HSPG2	HP:0002085	Occipital encephalocele	1/2	OMIM:224410
3339	HSPG2	HP:0002084	Encephalocele	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:800
3339	HSPG2	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0002093	Respiratory insufficiency	1/2	OMIM:224410
3339	HSPG2	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:800
3339	HSPG2	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0002047	Malignant hyperthermia	-	OMIM:255800
3339	HSPG2	HP:0002047	Malignant hyperthermia	HP:0040283	ORPHA:800
3339	HSPG2	HP:0003388	Easy fatigability	36/76	OMIM:131300
3339	HSPG2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3339	HSPG2	HP:0100569	Abnormally ossified vertebrae	HP:0040282	ORPHA:800
3339	HSPG2	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:800
3339	HSPG2	HP:0009473	Joint contracture of the hand	-	OMIM:255800
3339	HSPG2	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0003457	EMG abnormality	HP:0040281	ORPHA:800
3339	HSPG2	HP:0002104	Apnea	HP:0040283	ORPHA:800
3339	HSPG2	HP:0003417	Coronal cleft vertebrae	1/3	OMIM:255800
3339	HSPG2	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:800
3339	HSPG2	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0010548	Percussion myotonia	1/3	OMIM:255800
3339	HSPG2	HP:0010508	Metatarsus valgus	HP:0040281	ORPHA:800
3339	HSPG2	HP:0003593	Infantile onset	8/21	OMIM:255800
3339	HSPG2	HP:0003577	Congenital onset	2/18	OMIM:255800
3339	HSPG2	HP:0003577	Congenital onset	2/2	OMIM:224410
3339	HSPG2	HP:0002242	Abnormal intestine morphology	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0003552	Muscle stiffness	18/18	OMIM:255800
3339	HSPG2	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0002230	Generalized hirsutism	-	OMIM:255800
3339	HSPG2	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:800
3339	HSPG2	HP:0009743	Distichiasis	HP:0040283	ORPHA:800
3339	HSPG2	HP:0100795	Abnormally straight spine	HP:0040283	ORPHA:800
3339	HSPG2	HP:0100759	Clubbing of fingers	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:800
3339	HSPG2	HP:0003510	Severe short stature	7/7	OMIM:615777
3339	HSPG2	HP:0003510	Severe short stature	HP:0040282	ORPHA:1865
3339	HSPG2	HP:0003510	Severe short stature	1/2	OMIM:224410
3339	HSPG2	HP:0001059	Pterygium	1/2	OMIM:224410
3339	HSPG2	HP:0001059	Pterygium	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0001009	Telangiectasia	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0001007	Hirsutism	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0002315	Headache	-	OMIM:131300
3339	HSPG2	HP:0004976	Knee dislocation	6/7	OMIM:615777
3339	HSPG2	HP:0009826	Limb undergrowth	HP:0040282	ORPHA:1865
3339	HSPG2	HP:0100612	Odontogenic neoplasm	HP:0040283	ORPHA:800
3339	HSPG2	HP:0009803	Short phalanx of finger	-	OMIM:615777
3339	HSPG2	HP:0001083	Ectopia lentis	HP:0040283	ORPHA:800
3339	HSPG2	HP:0008499	High hypermetropia	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0009763	Limb pain	63/92	OMIM:131300
3339	HSPG2	HP:0003621	Juvenile onset	-	OMIM:131300
3339	HSPG2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3339	HSPG2	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3339	HSPG2	HP:0000639	Nystagmus	HP:0040283	ORPHA:1606
3339	HSPG2	HP:6001056	Out-toeing	-	OMIM:131300
3339	HSPG2	HP:0000651	Diplopia	-	OMIM:131300
3339	HSPG2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0000643	Blepharospasm	HP:0040283	ORPHA:800
3339	HSPG2	HP:0001956	Truncal obesity	2/7	OMIM:615777
3339	HSPG2	HP:0000600	Abnormality of the pharynx	HP:0040282	ORPHA:800
3339	HSPG2	HP:0001903	Anemia	HP:0040283	OMIM:131300
3339	HSPG2	HP:0010049	Short metacarpal	-	OMIM:615777
3339	HSPG2	HP:0000678	Dental crowding	-	OMIM:615777
3339	HSPG2	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:800
3339	HSPG2	HP:0000670	Carious teeth	-	OMIM:131300
3339	HSPG2	HP:0011304	Broad thumb	2/7	OMIM:615777
3339	HSPG2	HP:0000668	Hypodontia	-	OMIM:615777
3339	HSPG2	HP:0000664	Synophrys	-	OMIM:615777
3339	HSPG2	HP:0004325	Decreased body weight	HP:0040283	ORPHA:800
3339	HSPG2	HP:0004322	Short stature	HP:0040281	ORPHA:800
3339	HSPG2	HP:0004322	Short stature	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0004322	Short stature	17/21	OMIM:255800
3339	HSPG2	HP:0004326	Cachexia	HP:0040283	ORPHA:800
3339	HSPG2	HP:0005622	Broad long bones	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0004396	Poor appetite	-	OMIM:131300
3339	HSPG2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3339	HSPG2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3339	HSPG2	HP:0004378	Abnormality of the anus	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0003044	Shoulder flexion contracture	-	OMIM:255800
3339	HSPG2	HP:0003044	Shoulder flexion contracture	HP:0040282	ORPHA:800
3339	HSPG2	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:800
3339	HSPG2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3339	HSPG2	HP:0003016	Metaphyseal widening	-	OMIM:255800
3339	HSPG2	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0003026	Short long bone	7/7	OMIM:615777
3339	HSPG2	HP:0003026	Short long bone	HP:0040282	ORPHA:1865
3339	HSPG2	HP:0003026	Short long bone	2/2	OMIM:224410
3339	HSPG2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3339	HSPG2	HP:0000772	Abnormal rib morphology	HP:0040283	ORPHA:800
3339	HSPG2	HP:0012733	Macule	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:800
3339	HSPG2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3339	HSPG2	HP:0000768	Pectus carinatum	-	OMIM:255800
3339	HSPG2	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:800
3339	HSPG2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3339	HSPG2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3339	HSPG2	HP:0000737	Irritability	HP:0040283	ORPHA:800
3339	HSPG2	HP:0000739	Anxiety	HP:0040283	ORPHA:800
3339	HSPG2	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0000750	Delayed speech and language development	-	OMIM:615777
3339	HSPG2	HP:0000717	Autism	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0011463	Childhood onset	11/21	OMIM:255800
3339	HSPG2	HP:0011461	Fetal onset	7/7	OMIM:615777
3339	HSPG2	HP:0000774	Narrow chest	HP:0040282	ORPHA:1865
3339	HSPG2	HP:0000774	Narrow chest	2/7	OMIM:615777
3339	HSPG2	HP:0000773	Short ribs	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:800
3339	HSPG2	HP:0003198	Myopathy	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0003198	Myopathy	HP:0040282	ORPHA:800
3339	HSPG2	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:800
3339	HSPG2	HP:0000926	Platyspondyly	2/9	OMIM:255800
3339	HSPG2	HP:0000926	Platyspondyly	HP:0040282	ORPHA:800
3339	HSPG2	HP:0000926	Platyspondyly	1/7	OMIM:615777
3339	HSPG2	HP:0003179	Protrusio acetabuli	HP:0040283	ORPHA:800
3339	HSPG2	HP:0003177	Squared iliac bones	1/3	OMIM:255800
3339	HSPG2	HP:0003175	Hypoplastic ischia	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0003173	Hypoplastic pubic bone	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0003180	Flat acetabular roof	-	OMIM:615777
3339	HSPG2	HP:0000902	Rib fusion	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0004482	Relative macrocephaly	-	OMIM:615777
3339	HSPG2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3339	HSPG2	HP:0000878	11 pairs of ribs	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0000892	Bifid ribs	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0000823	Delayed puberty	-	OMIM:131300
3339	HSPG2	HP:0040064	Abnormality of limbs	HP:0040282	ORPHA:1865
3339	HSPG2	HP:0000894	Short clavicles	-	OMIM:615777
3339	HSPG2	HP:0003236	Elevated circulating creatine kinase concentration	1/3	OMIM:255800
3339	HSPG2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:800
3339	HSPG2	HP:0003202	Skeletal muscle atrophy	2/3	OMIM:255800
3339	HSPG2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3339	HSPG2	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:800
3339	HSPG2	HP:0005830	Flexion contracture of toe	-	OMIM:255800
3339	HSPG2	HP:0005830	Flexion contracture of toe	HP:0040282	ORPHA:800
3339	HSPG2	HP:0003273	Hip contracture	-	OMIM:255800
3339	HSPG2	HP:0003273	Hip contracture	HP:0040282	ORPHA:800
3339	HSPG2	HP:0100284	EMG: myotonic discharges	1/3	OMIM:255800
3339	HSPG2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3339	HSPG2	HP:0000939	Osteoporosis	-	OMIM:255800
3339	HSPG2	HP:0000939	Osteoporosis	HP:0040282	ORPHA:800
3339	HSPG2	HP:0045025	Narrow palpebral fissure	1/3	OMIM:255800
3339	HSPG2	HP:0000946	Hypoplastic ilia	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:800
3339	HSPG2	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0008056	Aplasia/Hypoplasia affecting the eye	HP:0040283	ORPHA:800
3339	HSPG2	HP:0011675	Arrhythmia	HP:0040283	ORPHA:800
3339	HSPG2	HP:0000286	Epicanthus	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0000286	Epicanthus	1/7	OMIM:615777
3339	HSPG2	HP:0000280	Coarse facial features	2/7	OMIM:615777
3339	HSPG2	HP:0000298	Mask-like facies	18/18	OMIM:255800
3339	HSPG2	HP:0000298	Mask-like facies	HP:0040282	ORPHA:800
3339	HSPG2	HP:0000293	Full cheeks	-	OMIM:255800
3339	HSPG2	HP:0000293	Full cheeks	HP:0040281	ORPHA:800
3339	HSPG2	HP:0000294	Low anterior hairline	HP:0040283	ORPHA:800
3339	HSPG2	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0000272	Malar flattening	-	OMIM:224410
3339	HSPG2	HP:0000272	Malar flattening	-	OMIM:255800
3339	HSPG2	HP:0006473	Anterior bowing of long bones	-	OMIM:255800
3339	HSPG2	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0007740	Long eyelashes in irregular rows	-	OMIM:255800
3339	HSPG2	HP:0007740	Long eyelashes in irregular rows	HP:0040283	ORPHA:800
3339	HSPG2	HP:0002812	Coxa vara	-	OMIM:255800
3339	HSPG2	HP:0002812	Coxa vara	HP:0040282	ORPHA:800
3339	HSPG2	HP:0002827	Hip dislocation	3/7	OMIM:615777
3339	HSPG2	HP:0002808	Kyphosis	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0002808	Kyphosis	HP:0040282	ORPHA:800
3339	HSPG2	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:800
3339	HSPG2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0000252	Microcephaly	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0000252	Microcephaly	1/2	OMIM:224410
3339	HSPG2	HP:0000252	Microcephaly	HP:0040283	ORPHA:800
3339	HSPG2	HP:0000252	Microcephaly	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0000252	Microcephaly	-	OMIM:615777
3339	HSPG2	HP:0000248	Brachycephaly	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0001548	Overgrowth	-	OMIM:224410
3339	HSPG2	HP:0002879	Anisospondyly	2/2	OMIM:224410
3339	HSPG2	HP:0002879	Anisospondyly	HP:0040282	ORPHA:1865
3339	HSPG2	HP:0000218	High palate	2/3	OMIM:255800
3339	HSPG2	HP:0000218	High palate	HP:0040282	ORPHA:800
3339	HSPG2	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:800
3339	HSPG2	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:800
3339	HSPG2	HP:0001557	Prenatal movement abnormality	HP:0040283	ORPHA:800
3339	HSPG2	HP:0002857	Genu valgum	-	OMIM:131300
3339	HSPG2	HP:0002857	Genu valgum	HP:0040281	ORPHA:800
3339	HSPG2	HP:0001522	Death in infancy	HP:0040283	ORPHA:800
3339	HSPG2	HP:0000211	Trismus	HP:0040281	ORPHA:800
3339	HSPG2	HP:0001537	Umbilical hernia	-	OMIM:255800
3339	HSPG2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:800
3339	HSPG2	HP:0000205	Pursed lips	2/3	OMIM:255800
3339	HSPG2	HP:0000205	Pursed lips	HP:0040281	ORPHA:800
3339	HSPG2	HP:0001533	Slender build	-	OMIM:131300
3339	HSPG2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3339	HSPG2	HP:0001513	Obesity	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0007807	Optic nerve compression	-	OMIM:131300
3339	HSPG2	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:800
3339	HSPG2	HP:0012368	Flat face	7/7	OMIM:615777
3339	HSPG2	HP:0012368	Flat face	HP:0040282	ORPHA:1865
3339	HSPG2	HP:0012368	Flat face	1/2	OMIM:224410
3339	HSPG2	HP:0012368	Flat face	-	OMIM:255800
3339	HSPG2	HP:0012368	Flat face	HP:0040282	ORPHA:800
3339	HSPG2	HP:0000396	Overfolded helix	1/3	OMIM:255800
3339	HSPG2	HP:0000396	Overfolded helix	HP:0040282	ORPHA:800
3339	HSPG2	HP:0005257	Thoracic hypoplasia	2/2	OMIM:224410
3339	HSPG2	HP:0005268	Miscarriage	HP:0040282	ORPHA:1865
3339	HSPG2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3339	HSPG2	HP:0002938	Lumbar hyperlordosis	1/3	OMIM:255800
3339	HSPG2	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:800
3339	HSPG2	HP:0001618	Dysphonia	HP:0040283	ORPHA:800
3339	HSPG2	HP:0002947	Cervical kyphosis	1/3	OMIM:255800
3339	HSPG2	HP:0006499	Abnormal femoral epiphysis morphology	-	OMIM:255800
3339	HSPG2	HP:0006487	Bowing of the long bones	-	OMIM:224410
3339	HSPG2	HP:0006487	Bowing of the long bones	2/3	OMIM:255800
3339	HSPG2	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:800
3339	HSPG2	HP:0000365	Hearing impairment	10/67	OMIM:131300
3339	HSPG2	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0000358	Posteriorly rotated ears	1/2	OMIM:224410
3339	HSPG2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:800
3339	HSPG2	HP:0000369	Low-set ears	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0000369	Low-set ears	2/3	OMIM:255800
3339	HSPG2	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0000343	Long philtrum	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0000343	Long philtrum	HP:0040283	ORPHA:800
3339	HSPG2	HP:0000343	Long philtrum	1/7	OMIM:615777
3339	HSPG2	HP:0011001	Increased bone mineral density	-	OMIM:131300
3339	HSPG2	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:800
3339	HSPG2	HP:0000347	Micrognathia	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0000347	Micrognathia	3/3	OMIM:255800
3339	HSPG2	HP:0000347	Micrognathia	1/2	OMIM:224410
3339	HSPG2	HP:0000347	Micrognathia	HP:0040282	ORPHA:800
3339	HSPG2	HP:0002983	Micromelia	HP:0040282	ORPHA:1865
3339	HSPG2	HP:0002983	Micromelia	1/2	OMIM:224410
3339	HSPG2	HP:0002983	Micromelia	1/3	OMIM:255800
3339	HSPG2	HP:0002983	Micromelia	HP:0040281	ORPHA:800
3339	HSPG2	HP:0002979	Bowing of the legs	5/21	OMIM:255800
3339	HSPG2	HP:0002979	Bowing of the legs	HP:0040282	ORPHA:1865
3339	HSPG2	HP:0000316	Hypertelorism	1/3	OMIM:255800
3339	HSPG2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:800
3339	HSPG2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0000311	Round face	2/7	OMIM:615777
3339	HSPG2	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0001621	Weak voice	-	OMIM:255800
3339	HSPG2	HP:0001621	Weak voice	HP:0040282	ORPHA:800
3339	HSPG2	HP:0001620	Abnormally high-pitched voice	-	OMIM:255800
3339	HSPG2	HP:0001620	Abnormally high-pitched voice	HP:0040282	ORPHA:800
3339	HSPG2	HP:0002970	Genu varum	-	OMIM:615777
3339	HSPG2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0000307	Pointed chin	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0000303	Mandibular prognathia	-	OMIM:131300
3339	HSPG2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0001734	Annular pancreas	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3339	HSPG2	HP:0000486	Strabismus	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0000486	Strabismus	HP:0040282	ORPHA:800
3339	HSPG2	HP:0000482	Microcornea	-	OMIM:255800
3339	HSPG2	HP:0000482	Microcornea	HP:0040283	ORPHA:800
3339	HSPG2	HP:0000490	Deeply set eye	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0000464	Abnormality of the neck	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0011120	Concave nasal ridge	1/3	OMIM:255800
3339	HSPG2	HP:0001789	Hydrops fetalis	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0000470	Short neck	HP:0040282	ORPHA:1865
3339	HSPG2	HP:0000470	Short neck	-	OMIM:255800
3339	HSPG2	HP:0000470	Short neck	HP:0040282	ORPHA:800
3339	HSPG2	HP:0000470	Short neck	1/7	OMIM:615777
3339	HSPG2	HP:0001773	Short foot	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3339	HSPG2	HP:0001763	Pes planus	3/21	OMIM:255800
3339	HSPG2	HP:0001763	Pes planus	HP:0040281	ORPHA:800
3339	HSPG2	HP:0001763	Pes planus	1/7	OMIM:615777
3339	HSPG2	HP:0001743	Abnormality of the spleen	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:1865
3339	HSPG2	HP:0001762	Talipes equinovarus	-	OMIM:255800
3339	HSPG2	HP:0001762	Talipes equinovarus	1/2	OMIM:224410
3339	HSPG2	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:800
3339	HSPG2	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0000431	Wide nasal bridge	1/2	OMIM:224410
3339	HSPG2	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:800
3339	HSPG2	HP:0000518	Cataract	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0000518	Cataract	-	OMIM:255800
3339	HSPG2	HP:0000518	Cataract	1/2	OMIM:224410
3339	HSPG2	HP:0000518	Cataract	HP:0040282	ORPHA:800
3339	HSPG2	HP:0000519	Developmental cataract	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0001840	Metatarsus adductus	-	OMIM:615777
3339	HSPG2	HP:0000520	Proptosis	2/4	OMIM:131300
3339	HSPG2	HP:0000520	Proptosis	HP:0040283	ORPHA:1865
3339	HSPG2	HP:0000520	Proptosis	7/7	OMIM:615777
3339	HSPG2	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0000508	Ptosis	-	OMIM:255800
3339	HSPG2	HP:0000508	Ptosis	HP:0040282	ORPHA:800
3339	HSPG2	HP:0000505	Visual impairment	HP:0040283	ORPHA:1606
3339	HSPG2	HP:0000505	Visual impairment	HP:0040281	ORPHA:800
3339	HSPG2	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0000581	Blepharophimosis	1/3	OMIM:255800
3339	HSPG2	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:800
3339	HSPG2	HP:0000592	Blue sclerae	2/7	OMIM:615777
3339	HSPG2	HP:0011228	Horizontal eyebrow	HP:0040281	ORPHA:1606
3339	HSPG2	HP:0012544	Elevated circulating aldolase concentration	HP:0040281	ORPHA:800
3339	HSPG2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3339	HSPG2	HP:0000534	Abnormal eyebrow morphology	HP:0040282	ORPHA:1606
3339	HSPG2	HP:0000534	Abnormal eyebrow morphology	HP:0040282	ORPHA:800
3339	HSPG2	HP:0012514	Lower limb pain	4/4	OMIM:131300
3339	HSPG2	HP:0000545	Myopia	-	OMIM:255800
3339	HSPG2	HP:0000545	Myopia	HP:0040282	ORPHA:800
3340	NDST1	HP:0002465	Poor speech	-	OMIM:616116
3340	NDST1	HP:0010862	Delayed fine motor development	5/5	OMIM:616116
3340	NDST1	HP:0001250	Seizure	5/8	OMIM:616116
3340	NDST1	HP:0001252	Hypotonia	5/8	OMIM:616116
3340	NDST1	HP:0001251	Ataxia	1/8	OMIM:616116
3340	NDST1	HP:0001249	Intellectual disability	8/8	OMIM:616116
3340	NDST1	HP:0001263	Global developmental delay	8/8	OMIM:616116
3340	NDST1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616116
3340	NDST1	HP:0002119	Ventriculomegaly	1/5	OMIM:616116
3340	NDST1	HP:0002194	Delayed gross motor development	8/8	OMIM:616116
3340	NDST1	HP:0003593	Infantile onset	1/8	OMIM:616116
3340	NDST1	HP:0100716	Self-injurious behavior	3/8	OMIM:616116
3340	NDST1	HP:0002360	Sleep abnormality	3/8	OMIM:616116
3340	NDST1	HP:0000639	Nystagmus	1/8	OMIM:616116
3340	NDST1	HP:0000687	Widely spaced teeth	1/8	OMIM:616116
3340	NDST1	HP:0000664	Synophrys	1/8	OMIM:616116
3340	NDST1	HP:0004322	Short stature	4/8	OMIM:616116
3340	NDST1	HP:0000750	Delayed speech and language development	8/8	OMIM:616116
3340	NDST1	HP:0000718	Aggressive behavior	5/8	OMIM:616116
3340	NDST1	HP:0000713	Agitation	-	OMIM:616116
3340	NDST1	HP:0011463	Childhood onset	7/8	OMIM:616116
3340	NDST1	HP:0000286	Epicanthus	1/8	OMIM:616116
3340	NDST1	HP:0001520	Large for gestational age	3/8	OMIM:616116
3340	NDST1	HP:0001510	Growth delay	-	OMIM:616116
3340	NDST1	HP:0000303	Mandibular prognathia	1/8	OMIM:616116
3340	NDST1	HP:0000486	Strabismus	2/8	OMIM:616116
3340	NDST1	HP:0001763	Pes planus	2/8	OMIM:616116
3340	NDST1	HP:0000411	Protruding ear	1/8	OMIM:616116
3350	HTR1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:614674
3350	HTR1A	HP:0002076	Migraine	-	OMIM:614674
3350	HTR1A	HP:0200067	Recurrent spontaneous abortion	HP:0040283	OMIM:614674
3350	HTR1A	HP:0001945	Fever	-	OMIM:614674
3350	HTR1A	HP:0003118	Increased circulating cortisol level	HP:0040283	OMIM:614674
3356	HTR2A	HP:0410291	Negativism	-	OMIM:181500
3356	HTR2A	HP:0010982	Polygenic inheritance	-	OMIM:608516
3356	HTR2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:164230
3356	HTR2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:181500
3356	HTR2A	HP:0012166	Skin-picking	-	OMIM:164230
3356	HTR2A	HP:0100753	Schizophrenia	-	OMIM:181500
3356	HTR2A	HP:0007086	Social and occupational deterioration	-	OMIM:181500
3356	HTR2A	HP:0002353	EEG abnormality	-	OMIM:181500
3356	HTR2A	HP:0000738	Hallucinations	-	OMIM:181500
3356	HTR2A	HP:0000739	Anxiety	-	OMIM:164230
3356	HTR2A	HP:0000746	Delusion	-	OMIM:181500
3356	HTR2A	HP:0000716	Depression	-	OMIM:608516
3356	HTR2A	HP:0000716	Depression	-	OMIM:164230
3356	HTR2A	HP:0000722	Compulsive behaviors	-	OMIM:164230
3356	HTR2A	HP:0030212	Collectionism	-	OMIM:164230
3371	TNC	HP:0000006	Autosomal dominant inheritance	-	OMIM:615629
3371	TNC	HP:0003621	Juvenile onset	-	OMIM:615629
3371	TNC	HP:0011462	Young adult onset	-	OMIM:615629
3371	TNC	HP:0000407	Sensorineural hearing impairment	11/11	OMIM:615629
3371	TNC	HP:0001751	Abnormal vestibular function	0/11	OMIM:615629
3373	HYAL1	HP:0033640	Acetabular erosions	1/1	OMIM:601492
3373	HYAL1	HP:0006094	Finger joint hypermobility	1/3	OMIM:601492
3373	HYAL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:601492
3373	HYAL1	HP:0000193	Bifid uvula	1/1	OMIM:601492
3373	HYAL1	HP:0000176	Submucous cleft hard palate	1/1	OMIM:601492
3373	HYAL1	HP:6000969	Diminished circulating hyaluronidase activity	1/1	OMIM:601492
3373	HYAL1	HP:0004626	Lumbar scoliosis	1/3	OMIM:601492
3373	HYAL1	HP:0010485	Hyperextensibility at elbow	1/3	OMIM:601492
3373	HYAL1	HP:0100769	Synovitis	3/3	OMIM:601492
3373	HYAL1	HP:0032072	Popliteal synovial cyst	1/1	OMIM:601492
3373	HYAL1	HP:0020127	Periarticular soft-tissue mass	1/1	OMIM:601492
3373	HYAL1	HP:0003621	Juvenile onset	3/4	OMIM:601492
3373	HYAL1	HP:0004322	Short stature	1/1	OMIM:601492
3373	HYAL1	HP:0004322	Short stature	HP:0040281	ORPHA:67041
3373	HYAL1	HP:0011463	Childhood onset	1/3	OMIM:601492
3373	HYAL1	HP:0003170	Abnormal acetabulum morphology	HP:0040281	ORPHA:67041
3373	HYAL1	HP:0030839	Knee pain	3/3	OMIM:601492
3373	HYAL1	HP:0030838	Hip pain	1/3	OMIM:601492
3373	HYAL1	HP:0030840	Ankle pain	1/3	OMIM:601492
3373	HYAL1	HP:0000934	Chondrocalcinosis	1/1	OMIM:601492
3373	HYAL1	HP:0005072	Wrist hypermobility	1/3	OMIM:601492
3373	HYAL1	HP:0000403	Recurrent otitis media	1/1	OMIM:601492
3373	HYAL1	HP:0005280	Depressed nasal bridge	1/1	OMIM:601492
3376	IARS1	HP:0001250	Seizure	HP:0040283	ORPHA:541423
3376	IARS1	HP:0001250	Seizure	1/3	OMIM:617093
3376	IARS1	HP:0001252	Hypotonia	HP:0040282	ORPHA:541423
3376	IARS1	HP:0001252	Hypotonia	2/3	OMIM:617093
3376	IARS1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:541423
3376	IARS1	HP:0001249	Intellectual disability	3/3	OMIM:617093
3376	IARS1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:541423
3376	IARS1	HP:0001263	Global developmental delay	-	OMIM:617093
3376	IARS1	HP:0001257	Spasticity	HP:0040283	ORPHA:541423
3376	IARS1	HP:0001257	Spasticity	1/3	OMIM:617093
3376	IARS1	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:541423
3376	IARS1	HP:0000081	Duplicated collecting system	1/1	OMIM:617093
3376	IARS1	HP:0000081	Duplicated collecting system	HP:0040283	ORPHA:541423
3376	IARS1	HP:0001397	Hepatic steatosis	2/3	OMIM:617093
3376	IARS1	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:541423
3376	IARS1	HP:0001396	Cholestasis	HP:0040282	ORPHA:541423
3376	IARS1	HP:0001399	Hepatic failure	HP:0040283	ORPHA:541423
3376	IARS1	HP:0001395	Hepatic fibrosis	2/3	OMIM:617093
3376	IARS1	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:541423
3376	IARS1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:541423
3376	IARS1	HP:0001382	Joint hypermobility	1/1	OMIM:617093
3376	IARS1	HP:0008897	Postnatal growth retardation	3/3	OMIM:617093
3376	IARS1	HP:0006129	Drumstick terminal phalanges	HP:0040283	ORPHA:541423
3376	IARS1	HP:0001344	Absent speech	HP:0040282	ORPHA:541423
3376	IARS1	HP:0001344	Absent speech	1/3	OMIM:617093
3376	IARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617093
3376	IARS1	HP:0000126	Hydronephrosis	1/1	OMIM:617093
3376	IARS1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:541423
3376	IARS1	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:541423
3376	IARS1	HP:0001410	Decreased liver function	-	OMIM:617093
3376	IARS1	HP:0001406	Intrahepatic cholestasis	1/1	OMIM:617093
3376	IARS1	HP:0002719	Recurrent infections	HP:0040282	ORPHA:541423
3376	IARS1	HP:0030948	Elevated gamma-glutamyltransferase level	1/1	OMIM:617093
3376	IARS1	HP:0100511	Abnormality of vitamin D metabolism	HP:0040283	ORPHA:541423
3376	IARS1	HP:0010648	Dermal translucency	HP:0040283	ORPHA:541423
3376	IARS1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:541423
3376	IARS1	HP:0001027	Soft, doughy skin	HP:0040283	ORPHA:541423
3376	IARS1	HP:0100633	Esophagitis	HP:0040283	ORPHA:541423
3376	IARS1	HP:0031831	Decreased serum zinc	HP:0040281	ORPHA:541423
3376	IARS1	HP:0031831	Decreased serum zinc	3/3	OMIM:617093
3376	IARS1	HP:0001943	Hypoglycemia	1/1	OMIM:617093
3376	IARS1	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:541423
3376	IARS1	HP:0001987	Hyperammonemia	1/1	OMIM:617093
3376	IARS1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	2/4	OMIM:617093
3376	IARS1	HP:0031964	Elevated circulating alanine aminotransferase concentration	2/4	OMIM:617093
3376	IARS1	HP:0030674	Antenatal onset	3/3	OMIM:617093
3376	IARS1	HP:0003073	Hypoalbuminemia	1/1	OMIM:617093
3376	IARS1	HP:0034198	Second trimester onset	1/1	OMIM:617093
3376	IARS1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:541423
3376	IARS1	HP:0011451	Primary microcephaly	1/1	OMIM:617093
3376	IARS1	HP:0011433	High maternal circulating chorionic gonadotropin concentration	1/1	OMIM:617093
3376	IARS1	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:617093
3376	IARS1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:541423
3376	IARS1	HP:0000974	Hyperextensible skin	HP:0040283	ORPHA:541423
3376	IARS1	HP:0000952	Jaundice	1/1	OMIM:617093
3376	IARS1	HP:0000293	Full cheeks	2/4	OMIM:617093
3376	IARS1	HP:0000293	Full cheeks	HP:0040283	ORPHA:541423
3376	IARS1	HP:0000252	Microcephaly	HP:0040283	ORPHA:541423
3376	IARS1	HP:0001562	Oligohydramnios	1/1	OMIM:617093
3376	IARS1	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:541423
3376	IARS1	HP:0001508	Failure to thrive	3/3	OMIM:617093
3376	IARS1	HP:0001518	Small for gestational age	1/1	OMIM:617093
3376	IARS1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:541423
3376	IARS1	HP:0001511	Intrauterine growth retardation	1/1	OMIM:617093
3376	IARS1	HP:0001510	Growth delay	HP:0040281	ORPHA:541423
3376	IARS1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:541423
3376	IARS1	HP:0002908	Conjugated hyperbilirubinemia	1/1	OMIM:617093
3376	IARS1	HP:0000311	Round face	1/1	OMIM:617093
3376	IARS1	HP:0000311	Round face	HP:0040283	ORPHA:541423
3376	IARS1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:541423
3376	IARS1	HP:0000407	Sensorineural hearing impairment	1/3	OMIM:617093
3376	IARS1	HP:0005484	Secondary microcephaly	3/3	OMIM:617093
3394	IRF8	HP:0032252	Granuloma	2/2	OMIM:614893
3394	IRF8	HP:0410242	Abnormal circulating IgG concentration	0/1	OMIM:226990
3394	IRF8	HP:0010978	Abnormality of immune system physiology	HP:0040281	ORPHA:319600
3394	IRF8	HP:0002514	Cerebral calcification	1/1	OMIM:226990
3394	IRF8	HP:0000007	Autosomal recessive inheritance	-	OMIM:226990
3394	IRF8	HP:0000006	Autosomal dominant inheritance	-	OMIM:614893
3394	IRF8	HP:0012138	Granulocytic hyperplasia	1/1	OMIM:226990
3394	IRF8	HP:0002719	Recurrent infections	-	OMIM:614893
3394	IRF8	HP:0002719	Recurrent infections	-	OMIM:226990
3394	IRF8	HP:0002716	Lymphadenopathy	2/2	OMIM:614893
3394	IRF8	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:319600
3394	IRF8	HP:0002721	Immunodeficiency	-	OMIM:226990
3394	IRF8	HP:0002721	Immunodeficiency	-	OMIM:614893
3394	IRF8	HP:0002090	Pneumonia	-	OMIM:226990
3394	IRF8	HP:0002110	Bronchiectasis	-	OMIM:226990
3394	IRF8	HP:0011897	Increased total neutrophil count	1/1	OMIM:226990
3394	IRF8	HP:0003593	Infantile onset	1/1	OMIM:226990
3394	IRF8	HP:0002240	Hepatomegaly	1/1	OMIM:226990
3394	IRF8	HP:0002205	Recurrent respiratory infections	-	OMIM:226990
3394	IRF8	HP:0020086	BCGitis	1/1	OMIM:226990
3394	IRF8	HP:0020086	BCGitis	2/2	OMIM:614893
3394	IRF8	HP:0001945	Fever	1/1	OMIM:226990
3394	IRF8	HP:0001945	Fever	1/2	OMIM:614893
3394	IRF8	HP:0001945	Fever	HP:0040281	ORPHA:319600
3394	IRF8	HP:0001903	Anemia	1/1	OMIM:226990
3394	IRF8	HP:0003073	Hypoalbuminemia	1/1	OMIM:226990
3394	IRF8	HP:0011463	Childhood onset	2/2	OMIM:614893
3394	IRF8	HP:0003203	Decreased neutrophil oxidative burst	1/1	OMIM:226990
3394	IRF8	HP:0000246	Sinusitis	-	OMIM:226990
3394	IRF8	HP:0002840	Lymphadenitis	1/2	OMIM:614893
3394	IRF8	HP:0001508	Failure to thrive	1/1	OMIM:226990
3394	IRF8	HP:0012312	Decreased total monocyte count	1/1	OMIM:226990
3394	IRF8	HP:0001744	Splenomegaly	1/1	OMIM:226990
3394	IRF8	HP:0001880	Increased total eosinophil count	1/1	OMIM:226990
3394	IRF8	HP:0001873	Thrombocytopenia	1/1	OMIM:226990
3400	ID4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3400	ID4	HP:0001293	Cranial nerve compression	-	OMIM:131300
3400	ID4	HP:0001252	Hypotonia	2/7	OMIM:615777
3400	ID4	HP:0001249	Intellectual disability	5/7	OMIM:615777
3400	ID4	HP:0001263	Global developmental delay	-	OMIM:615777
3400	ID4	HP:0002515	Waddling gait	54/102	OMIM:131300
3400	ID4	HP:0001382	Joint hypermobility	-	OMIM:615777
3400	ID4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3400	ID4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3400	ID4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3400	ID4	HP:0001324	Muscle weakness	40/96	OMIM:131300
3400	ID4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3400	ID4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3400	ID4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3400	ID4	HP:0002650	Scoliosis	12/14	OMIM:131300
3400	ID4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3400	ID4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3400	ID4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3400	ID4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3400	ID4	HP:0000175	Cleft palate	2/7	OMIM:615777
3400	ID4	HP:0003388	Easy fatigability	36/76	OMIM:131300
3400	ID4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3400	ID4	HP:0003510	Severe short stature	7/7	OMIM:615777
3400	ID4	HP:0002315	Headache	-	OMIM:131300
3400	ID4	HP:0004976	Knee dislocation	6/7	OMIM:615777
3400	ID4	HP:0009803	Short phalanx of finger	-	OMIM:615777
3400	ID4	HP:0009763	Limb pain	63/92	OMIM:131300
3400	ID4	HP:0003621	Juvenile onset	-	OMIM:131300
3400	ID4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3400	ID4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3400	ID4	HP:6001056	Out-toeing	-	OMIM:131300
3400	ID4	HP:0000651	Diplopia	-	OMIM:131300
3400	ID4	HP:0001956	Truncal obesity	2/7	OMIM:615777
3400	ID4	HP:0001903	Anemia	HP:0040283	OMIM:131300
3400	ID4	HP:0010049	Short metacarpal	-	OMIM:615777
3400	ID4	HP:0000678	Dental crowding	-	OMIM:615777
3400	ID4	HP:0000670	Carious teeth	-	OMIM:131300
3400	ID4	HP:0011304	Broad thumb	2/7	OMIM:615777
3400	ID4	HP:0000668	Hypodontia	-	OMIM:615777
3400	ID4	HP:0000664	Synophrys	-	OMIM:615777
3400	ID4	HP:0004396	Poor appetite	-	OMIM:131300
3400	ID4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3400	ID4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3400	ID4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3400	ID4	HP:0003026	Short long bone	7/7	OMIM:615777
3400	ID4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3400	ID4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3400	ID4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3400	ID4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3400	ID4	HP:0000750	Delayed speech and language development	-	OMIM:615777
3400	ID4	HP:0011461	Fetal onset	7/7	OMIM:615777
3400	ID4	HP:0000774	Narrow chest	2/7	OMIM:615777
3400	ID4	HP:0000926	Platyspondyly	1/7	OMIM:615777
3400	ID4	HP:0003180	Flat acetabular roof	-	OMIM:615777
3400	ID4	HP:0004482	Relative macrocephaly	-	OMIM:615777
3400	ID4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3400	ID4	HP:0000823	Delayed puberty	-	OMIM:131300
3400	ID4	HP:0000894	Short clavicles	-	OMIM:615777
3400	ID4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3400	ID4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3400	ID4	HP:0000286	Epicanthus	1/7	OMIM:615777
3400	ID4	HP:0000280	Coarse facial features	2/7	OMIM:615777
3400	ID4	HP:0002827	Hip dislocation	3/7	OMIM:615777
3400	ID4	HP:0000252	Microcephaly	-	OMIM:615777
3400	ID4	HP:0002857	Genu valgum	-	OMIM:131300
3400	ID4	HP:0001533	Slender build	-	OMIM:131300
3400	ID4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3400	ID4	HP:0007807	Optic nerve compression	-	OMIM:131300
3400	ID4	HP:0012368	Flat face	7/7	OMIM:615777
3400	ID4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3400	ID4	HP:0000365	Hearing impairment	10/67	OMIM:131300
3400	ID4	HP:0000343	Long philtrum	1/7	OMIM:615777
3400	ID4	HP:0011001	Increased bone mineral density	-	OMIM:131300
3400	ID4	HP:0000311	Round face	2/7	OMIM:615777
3400	ID4	HP:0002970	Genu varum	-	OMIM:615777
3400	ID4	HP:0000303	Mandibular prognathia	-	OMIM:131300
3400	ID4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3400	ID4	HP:0000470	Short neck	1/7	OMIM:615777
3400	ID4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3400	ID4	HP:0001763	Pes planus	1/7	OMIM:615777
3400	ID4	HP:0001840	Metatarsus adductus	-	OMIM:615777
3400	ID4	HP:0000520	Proptosis	2/4	OMIM:131300
3400	ID4	HP:0000520	Proptosis	7/7	OMIM:615777
3400	ID4	HP:0000592	Blue sclerae	2/7	OMIM:615777
3400	ID4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3400	ID4	HP:0012514	Lower limb pain	4/4	OMIM:131300
3417	IDH1	HP:0003796	Irregular iliac crest	HP:0040283	ORPHA:99646
3417	IDH1	HP:0002453	Abnormal globus pallidus morphology	HP:0040283	ORPHA:99646
3417	IDH1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3417	IDH1	HP:0001293	Cranial nerve compression	-	OMIM:131300
3417	IDH1	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:99646
3417	IDH1	HP:0100806	Sepsis	HP:0040283	ORPHA:99646
3417	IDH1	HP:0001270	Motor delay	HP:0040283	ORPHA:99646
3417	IDH1	HP:0001252	Hypotonia	2/7	OMIM:615777
3417	IDH1	HP:0001249	Intellectual disability	5/7	OMIM:615777
3417	IDH1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:99646
3417	IDH1	HP:0001263	Global developmental delay	-	OMIM:615777
3417	IDH1	HP:0007375	Abnormal septum pellucidum morphology	HP:0040283	ORPHA:99646
3417	IDH1	HP:0007361	Abnormal pons morphology	HP:0040283	ORPHA:99646
3417	IDH1	HP:0002515	Waddling gait	HP:0040283	ORPHA:99646
3417	IDH1	HP:0002515	Waddling gait	54/102	OMIM:131300
3417	IDH1	HP:0001367	Abnormal joint morphology	HP:0040282	ORPHA:99646
3417	IDH1	HP:0001387	Joint stiffness	HP:0040282	ORPHA:296
3417	IDH1	HP:0001382	Joint hypermobility	-	OMIM:615777
3417	IDH1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3417	IDH1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3417	IDH1	HP:0007486	Cavernous hemangioma of the face	HP:0040283	ORPHA:99646
3417	IDH1	HP:0007461	Hemangiomatosis	HP:0040281	ORPHA:163634
3417	IDH1	HP:0002664	Neoplasm	HP:0040283	ORPHA:296
3417	IDH1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3417	IDH1	HP:0001324	Muscle weakness	40/96	OMIM:131300
3417	IDH1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3417	IDH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3417	IDH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:137800
3417	IDH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3417	IDH1	HP:0002653	Bone pain	HP:0040282	ORPHA:296
3417	IDH1	HP:0002653	Bone pain	HP:0040282	ORPHA:163634
3417	IDH1	HP:0002650	Scoliosis	HP:0040283	ORPHA:296
3417	IDH1	HP:0002650	Scoliosis	12/14	OMIM:131300
3417	IDH1	HP:0002650	Scoliosis	HP:0040282	ORPHA:163634
3417	IDH1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3417	IDH1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3417	IDH1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3417	IDH1	HP:0012174	Glioblastoma multiforme	-	OMIM:137800
3417	IDH1	HP:0025473	Hyperpigmented papule	HP:0040283	ORPHA:99646
3417	IDH1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3417	IDH1	HP:0000175	Cleft palate	2/7	OMIM:615777
3417	IDH1	HP:0002797	Osteolysis	HP:0040281	ORPHA:296
3417	IDH1	HP:0002797	Osteolysis	HP:0040281	ORPHA:163634
3417	IDH1	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:296
3417	IDH1	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:163634
3417	IDH1	HP:0000122	Unilateral renal agenesis	HP:0040283	ORPHA:99646
3417	IDH1	HP:0002763	Abnormal cartilage morphology	HP:0040281	ORPHA:296
3417	IDH1	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:163634
3417	IDH1	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:296
3417	IDH1	HP:0001442	Typified by somatic mosaicism	-	OMIM:137800
3417	IDH1	HP:0002033	Poor suck	HP:0040283	ORPHA:99646
3417	IDH1	HP:0002015	Dysphagia	HP:0040283	ORPHA:163634
3417	IDH1	HP:0003301	Irregular vertebral endplates	HP:0040282	ORPHA:99646
3417	IDH1	HP:0004626	Lumbar scoliosis	HP:0040283	ORPHA:99646
3417	IDH1	HP:0002098	Respiratory distress	HP:0040283	ORPHA:99646
3417	IDH1	HP:0100560	Upper limb asymmetry	HP:0040283	ORPHA:296
3417	IDH1	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:296
3417	IDH1	HP:0003388	Easy fatigability	36/76	OMIM:131300
3417	IDH1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3417	IDH1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:99646
3417	IDH1	HP:0011849	Abnormal bone ossification	HP:0040281	ORPHA:99646
3417	IDH1	HP:0010576	Intracranial cystic lesion	HP:0040283	ORPHA:99646
3417	IDH1	HP:0009592	Astrocytoma	-	OMIM:137800
3417	IDH1	HP:0009592	Astrocytoma	HP:0040283	ORPHA:163634
3417	IDH1	HP:0100764	Lymphangioma	HP:0040283	ORPHA:296
3417	IDH1	HP:0100764	Lymphangioma	HP:0040283	ORPHA:99646
3417	IDH1	HP:0100777	Exostoses	HP:0040282	ORPHA:163634
3417	IDH1	HP:0100733	Neoplasm of the parathyroid gland	HP:0040283	ORPHA:163634
3417	IDH1	HP:0100761	Visceral angiomatosis	HP:0040281	ORPHA:296
3417	IDH1	HP:0007033	Cerebellar dysplasia	HP:0040283	ORPHA:99646
3417	IDH1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:99646
3417	IDH1	HP:0003510	Severe short stature	7/7	OMIM:615777
3417	IDH1	HP:0004820	Acute myelomonocytic leukemia	HP:0040283	ORPHA:99646
3417	IDH1	HP:0001048	Cavernous hemangioma	HP:0040283	ORPHA:99646
3417	IDH1	HP:0001028	Hemangioma	HP:0040281	ORPHA:296
3417	IDH1	HP:0002315	Headache	-	OMIM:131300
3417	IDH1	HP:0004976	Knee dislocation	6/7	OMIM:615777
3417	IDH1	HP:0200035	Skin plaque	HP:0040283	ORPHA:99646
3417	IDH1	HP:0100615	Ovarian neoplasm	HP:0040283	ORPHA:163634
3417	IDH1	HP:0009803	Short phalanx of finger	HP:0040282	ORPHA:99646
3417	IDH1	HP:0009803	Short phalanx of finger	-	OMIM:615777
3417	IDH1	HP:0200042	Skin ulcer	HP:0040283	ORPHA:296
3417	IDH1	HP:0100641	Neoplasm of the adrenal cortex	HP:0040283	ORPHA:163634
3417	IDH1	HP:0009763	Limb pain	63/92	OMIM:131300
3417	IDH1	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:296
3417	IDH1	HP:0004936	Venous thrombosis	HP:0040281	ORPHA:163634
3417	IDH1	HP:0003621	Juvenile onset	-	OMIM:131300
3417	IDH1	HP:0004948	Vascular tortuosity	HP:0040283	ORPHA:99646
3417	IDH1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3417	IDH1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:296
3417	IDH1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:163634
3417	IDH1	HP:0004242	Broad carpal bones	HP:0040283	ORPHA:99646
3417	IDH1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3417	IDH1	HP:6001056	Out-toeing	-	OMIM:131300
3417	IDH1	HP:0000651	Diplopia	-	OMIM:131300
3417	IDH1	HP:0001956	Truncal obesity	2/7	OMIM:615777
3417	IDH1	HP:0001903	Anemia	HP:0040283	OMIM:131300
3417	IDH1	HP:0010049	Short metacarpal	-	OMIM:615777
3417	IDH1	HP:0000678	Dental crowding	-	OMIM:615777
3417	IDH1	HP:0000670	Carious teeth	-	OMIM:131300
3417	IDH1	HP:0011304	Broad thumb	2/7	OMIM:615777
3417	IDH1	HP:0000668	Hypodontia	-	OMIM:615777
3417	IDH1	HP:0000664	Synophrys	-	OMIM:615777
3417	IDH1	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:99646
3417	IDH1	HP:0004322	Short stature	HP:0040282	ORPHA:163634
3417	IDH1	HP:0004322	Short stature	HP:0040282	ORPHA:99646
3417	IDH1	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:163634
3417	IDH1	HP:0003067	Madelung deformity	HP:0040283	ORPHA:296
3417	IDH1	HP:0004396	Poor appetite	-	OMIM:131300
3417	IDH1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3417	IDH1	HP:0003029	Enlargement of the ankles	HP:0040283	ORPHA:99646
3417	IDH1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3417	IDH1	HP:0003016	Metaphyseal widening	HP:0040281	ORPHA:99646
3417	IDH1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3417	IDH1	HP:0003026	Short long bone	7/7	OMIM:615777
3417	IDH1	HP:0003025	Metaphyseal irregularity	HP:0040281	ORPHA:99646
3417	IDH1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3417	IDH1	HP:0003021	Metaphyseal cupping	HP:0040282	ORPHA:99646
3417	IDH1	HP:0100021	Cerebral palsy	HP:0040283	ORPHA:163634
3417	IDH1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3417	IDH1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3417	IDH1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3417	IDH1	HP:0000750	Delayed speech and language development	-	OMIM:615777
3417	IDH1	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:99646
3417	IDH1	HP:0011461	Fetal onset	7/7	OMIM:615777
3417	IDH1	HP:0012766	Widened cerebral subarachnoid space	HP:0040283	ORPHA:99646
3417	IDH1	HP:0000774	Narrow chest	2/7	OMIM:615777
3417	IDH1	HP:0012762	Cerebral white matter atrophy	HP:0040283	ORPHA:99646
3417	IDH1	HP:0005701	Multiple enchondromatosis	HP:0040281	ORPHA:163634
3417	IDH1	HP:0005701	Multiple enchondromatosis	HP:0040281	ORPHA:296
3417	IDH1	HP:0005701	Multiple enchondromatosis	HP:0040281	ORPHA:99646
3417	IDH1	HP:0000914	Shield chest	HP:0040283	ORPHA:99646
3417	IDH1	HP:0000926	Platyspondyly	HP:0040282	ORPHA:99646
3417	IDH1	HP:0000926	Platyspondyly	1/7	OMIM:615777
3417	IDH1	HP:0003180	Flat acetabular roof	-	OMIM:615777
3417	IDH1	HP:0004482	Relative macrocephaly	-	OMIM:615777
3417	IDH1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3417	IDH1	HP:0000853	Goiter	HP:0040283	ORPHA:163634
3417	IDH1	HP:0000823	Delayed puberty	-	OMIM:131300
3417	IDH1	HP:0000894	Short clavicles	-	OMIM:615777
3417	IDH1	HP:0030866	Large knee	HP:0040283	ORPHA:99646
3417	IDH1	HP:0005868	Metaphyseal enchondromatosis	HP:0040281	ORPHA:99646
3417	IDH1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3417	IDH1	HP:0100255	Metaphyseal dysplasia	HP:0040283	ORPHA:99646
3417	IDH1	HP:0000958	Dry skin	HP:0040283	ORPHA:99646
3417	IDH1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3417	IDH1	HP:0100242	Sarcoma	HP:0040283	ORPHA:296
3417	IDH1	HP:0100242	Sarcoma	HP:0040283	ORPHA:163634
3417	IDH1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:296
3417	IDH1	HP:0011681	Subarterial ventricular septal defect	HP:0040283	ORPHA:99646
3417	IDH1	HP:0000286	Epicanthus	1/7	OMIM:615777
3417	IDH1	HP:0000280	Coarse facial features	2/7	OMIM:615777
3417	IDH1	HP:0000278	Retrognathia	HP:0040283	ORPHA:99646
3417	IDH1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:99646
3417	IDH1	HP:0002827	Hip dislocation	3/7	OMIM:615777
3417	IDH1	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:99646
3417	IDH1	HP:0002897	Parathyroid adenoma	HP:0040283	ORPHA:163634
3417	IDH1	HP:0000252	Microcephaly	-	OMIM:615777
3417	IDH1	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:99646
3417	IDH1	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:163634
3417	IDH1	HP:0002888	Ependymoma	-	OMIM:137800
3417	IDH1	HP:0002857	Genu valgum	HP:0040283	ORPHA:296
3417	IDH1	HP:0002857	Genu valgum	-	OMIM:131300
3417	IDH1	HP:0001533	Slender build	-	OMIM:131300
3417	IDH1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:99646
3417	IDH1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:99646
3417	IDH1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3417	IDH1	HP:0001510	Growth delay	HP:0040282	ORPHA:99646
3417	IDH1	HP:0001510	Growth delay	HP:0040283	ORPHA:163634
3417	IDH1	HP:0007807	Optic nerve compression	-	OMIM:131300
3417	IDH1	HP:0012368	Flat face	7/7	OMIM:615777
3417	IDH1	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:99646
3417	IDH1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3417	IDH1	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:99646
3417	IDH1	HP:0000365	Hearing impairment	10/67	OMIM:131300
3417	IDH1	HP:0000343	Long philtrum	HP:0040283	ORPHA:99646
3417	IDH1	HP:0000343	Long philtrum	1/7	OMIM:615777
3417	IDH1	HP:0011001	Increased bone mineral density	-	OMIM:131300
3417	IDH1	HP:0000337	Broad forehead	HP:0040283	ORPHA:99646
3417	IDH1	HP:0001684	Secundum atrial septal defect	HP:0040283	ORPHA:99646
3417	IDH1	HP:0012321	D-2-hydroxyglutaric aciduria	HP:0040280	ORPHA:99646
3417	IDH1	HP:0002983	Micromelia	HP:0040281	ORPHA:296
3417	IDH1	HP:0000311	Round face	2/7	OMIM:615777
3417	IDH1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:296
3417	IDH1	HP:0002970	Genu varum	HP:0040283	ORPHA:99646
3417	IDH1	HP:0002970	Genu varum	HP:0040283	ORPHA:296
3417	IDH1	HP:0002970	Genu varum	-	OMIM:615777
3417	IDH1	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:296
3417	IDH1	HP:0000303	Mandibular prognathia	-	OMIM:131300
3417	IDH1	HP:0006610	Wide intermamillary distance	HP:0040283	ORPHA:99646
3417	IDH1	HP:0030297	Metaphyseal chondromatosis of ulna	HP:0040282	ORPHA:99646
3417	IDH1	HP:0000400	Macrotia	HP:0040283	ORPHA:99646
3417	IDH1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3417	IDH1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:99646
3417	IDH1	HP:0012448	Delayed myelination	HP:0040283	ORPHA:99646
3417	IDH1	HP:0000470	Short neck	HP:0040283	ORPHA:99646
3417	IDH1	HP:0000470	Short neck	1/7	OMIM:615777
3417	IDH1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3417	IDH1	HP:0001763	Pes planus	1/7	OMIM:615777
3417	IDH1	HP:0030296	Metaphyseal chondromatosis of radius	HP:0040282	ORPHA:99646
3417	IDH1	HP:0030295	Metaphyseal chondromatosis of femur	HP:0040282	ORPHA:99646
3417	IDH1	HP:0030294	Metaphyseal chondromatosis of tibia	HP:0040282	ORPHA:99646
3417	IDH1	HP:0006765	Chondrosarcoma	HP:0040283	ORPHA:163634
3417	IDH1	HP:0006765	Chondrosarcoma	HP:0040283	ORPHA:296
3417	IDH1	HP:0000519	Developmental cataract	HP:0040283	ORPHA:99646
3417	IDH1	HP:0001840	Metatarsus adductus	-	OMIM:615777
3417	IDH1	HP:0000520	Proptosis	2/4	OMIM:131300
3417	IDH1	HP:0000520	Proptosis	7/7	OMIM:615777
3417	IDH1	HP:0000506	Telecanthus	HP:0040283	ORPHA:99646
3417	IDH1	HP:0000592	Blue sclerae	2/7	OMIM:615777
3417	IDH1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3417	IDH1	HP:0012514	Lower limb pain	4/4	OMIM:131300
3418	IDH2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3418	IDH2	HP:0001293	Cranial nerve compression	-	OMIM:131300
3418	IDH2	HP:0001250	Seizure	-	OMIM:613657
3418	IDH2	HP:0001252	Hypotonia	-	OMIM:613657
3418	IDH2	HP:0001252	Hypotonia	2/7	OMIM:615777
3418	IDH2	HP:0001249	Intellectual disability	5/7	OMIM:615777
3418	IDH2	HP:0001263	Global developmental delay	-	OMIM:613657
3418	IDH2	HP:0001263	Global developmental delay	-	OMIM:615777
3418	IDH2	HP:0002515	Waddling gait	54/102	OMIM:131300
3418	IDH2	HP:0001387	Joint stiffness	HP:0040282	ORPHA:296
3418	IDH2	HP:0001382	Joint hypermobility	-	OMIM:615777
3418	IDH2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3418	IDH2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3418	IDH2	HP:0007461	Hemangiomatosis	HP:0040281	ORPHA:163634
3418	IDH2	HP:0002664	Neoplasm	HP:0040283	ORPHA:296
3418	IDH2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3418	IDH2	HP:0001324	Muscle weakness	40/96	OMIM:131300
3418	IDH2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3418	IDH2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3418	IDH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3418	IDH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613657
3418	IDH2	HP:0002653	Bone pain	HP:0040282	ORPHA:296
3418	IDH2	HP:0002653	Bone pain	HP:0040282	ORPHA:163634
3418	IDH2	HP:0002650	Scoliosis	HP:0040283	ORPHA:296
3418	IDH2	HP:0002650	Scoliosis	12/14	OMIM:131300
3418	IDH2	HP:0002650	Scoliosis	HP:0040282	ORPHA:163634
3418	IDH2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3418	IDH2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3418	IDH2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3418	IDH2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3418	IDH2	HP:0000175	Cleft palate	2/7	OMIM:615777
3418	IDH2	HP:0002797	Osteolysis	HP:0040281	ORPHA:296
3418	IDH2	HP:0002797	Osteolysis	HP:0040281	ORPHA:163634
3418	IDH2	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:296
3418	IDH2	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:163634
3418	IDH2	HP:0002763	Abnormal cartilage morphology	HP:0040281	ORPHA:296
3418	IDH2	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:163634
3418	IDH2	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:296
3418	IDH2	HP:0002015	Dysphagia	HP:0040283	ORPHA:163634
3418	IDH2	HP:0100560	Upper limb asymmetry	HP:0040283	ORPHA:296
3418	IDH2	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:296
3418	IDH2	HP:0003388	Easy fatigability	36/76	OMIM:131300
3418	IDH2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3418	IDH2	HP:0009592	Astrocytoma	HP:0040283	ORPHA:163634
3418	IDH2	HP:0100764	Lymphangioma	HP:0040283	ORPHA:296
3418	IDH2	HP:0100777	Exostoses	HP:0040282	ORPHA:163634
3418	IDH2	HP:0100733	Neoplasm of the parathyroid gland	HP:0040283	ORPHA:163634
3418	IDH2	HP:0100761	Visceral angiomatosis	HP:0040281	ORPHA:296
3418	IDH2	HP:0003510	Severe short stature	7/7	OMIM:615777
3418	IDH2	HP:0001028	Hemangioma	HP:0040281	ORPHA:296
3418	IDH2	HP:0002315	Headache	-	OMIM:131300
3418	IDH2	HP:0004976	Knee dislocation	6/7	OMIM:615777
3418	IDH2	HP:0100615	Ovarian neoplasm	HP:0040283	ORPHA:163634
3418	IDH2	HP:0009803	Short phalanx of finger	-	OMIM:615777
3418	IDH2	HP:0200042	Skin ulcer	HP:0040283	ORPHA:296
3418	IDH2	HP:0100641	Neoplasm of the adrenal cortex	HP:0040283	ORPHA:163634
3418	IDH2	HP:0009763	Limb pain	63/92	OMIM:131300
3418	IDH2	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:296
3418	IDH2	HP:0004936	Venous thrombosis	HP:0040281	ORPHA:163634
3418	IDH2	HP:0003621	Juvenile onset	-	OMIM:131300
3418	IDH2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3418	IDH2	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:296
3418	IDH2	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:163634
3418	IDH2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3418	IDH2	HP:6001056	Out-toeing	-	OMIM:131300
3418	IDH2	HP:0000651	Diplopia	-	OMIM:131300
3418	IDH2	HP:0001956	Truncal obesity	2/7	OMIM:615777
3418	IDH2	HP:0001903	Anemia	HP:0040283	OMIM:131300
3418	IDH2	HP:0010049	Short metacarpal	-	OMIM:615777
3418	IDH2	HP:0000678	Dental crowding	-	OMIM:615777
3418	IDH2	HP:0000670	Carious teeth	-	OMIM:131300
3418	IDH2	HP:0011304	Broad thumb	2/7	OMIM:615777
3418	IDH2	HP:0000668	Hypodontia	-	OMIM:615777
3418	IDH2	HP:0000664	Synophrys	-	OMIM:615777
3418	IDH2	HP:0004322	Short stature	HP:0040282	ORPHA:163634
3418	IDH2	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:163634
3418	IDH2	HP:0003067	Madelung deformity	HP:0040283	ORPHA:296
3418	IDH2	HP:0004396	Poor appetite	-	OMIM:131300
3418	IDH2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3418	IDH2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3418	IDH2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3418	IDH2	HP:0003026	Short long bone	7/7	OMIM:615777
3418	IDH2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3418	IDH2	HP:0100021	Cerebral palsy	HP:0040283	ORPHA:163634
3418	IDH2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3418	IDH2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3418	IDH2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3418	IDH2	HP:0000750	Delayed speech and language development	-	OMIM:615777
3418	IDH2	HP:0011461	Fetal onset	7/7	OMIM:615777
3418	IDH2	HP:0000774	Narrow chest	2/7	OMIM:615777
3418	IDH2	HP:0005701	Multiple enchondromatosis	HP:0040281	ORPHA:163634
3418	IDH2	HP:0005701	Multiple enchondromatosis	HP:0040281	ORPHA:296
3418	IDH2	HP:0000926	Platyspondyly	1/7	OMIM:615777
3418	IDH2	HP:0003180	Flat acetabular roof	-	OMIM:615777
3418	IDH2	HP:0004482	Relative macrocephaly	-	OMIM:615777
3418	IDH2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3418	IDH2	HP:0000853	Goiter	HP:0040283	ORPHA:163634
3418	IDH2	HP:0000823	Delayed puberty	-	OMIM:131300
3418	IDH2	HP:0000894	Short clavicles	-	OMIM:615777
3418	IDH2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3418	IDH2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3418	IDH2	HP:0100242	Sarcoma	HP:0040283	ORPHA:296
3418	IDH2	HP:0100242	Sarcoma	HP:0040283	ORPHA:163634
3418	IDH2	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:296
3418	IDH2	HP:0040146	D-2-hydroxyglutaric acidemia	7/7	OMIM:613657
3418	IDH2	HP:0000286	Epicanthus	1/7	OMIM:615777
3418	IDH2	HP:0000280	Coarse facial features	2/7	OMIM:615777
3418	IDH2	HP:0002827	Hip dislocation	3/7	OMIM:615777
3418	IDH2	HP:0002897	Parathyroid adenoma	HP:0040283	ORPHA:163634
3418	IDH2	HP:0000252	Microcephaly	-	OMIM:615777
3418	IDH2	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:163634
3418	IDH2	HP:0002857	Genu valgum	HP:0040283	ORPHA:296
3418	IDH2	HP:0002857	Genu valgum	-	OMIM:131300
3418	IDH2	HP:0001533	Slender build	-	OMIM:131300
3418	IDH2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3418	IDH2	HP:0001510	Growth delay	HP:0040283	ORPHA:163634
3418	IDH2	HP:0007807	Optic nerve compression	-	OMIM:131300
3418	IDH2	HP:0012368	Flat face	7/7	OMIM:615777
3418	IDH2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3418	IDH2	HP:0000365	Hearing impairment	10/67	OMIM:131300
3418	IDH2	HP:0000343	Long philtrum	1/7	OMIM:615777
3418	IDH2	HP:0011001	Increased bone mineral density	-	OMIM:131300
3418	IDH2	HP:0012321	D-2-hydroxyglutaric aciduria	14/14	OMIM:613657
3418	IDH2	HP:0002983	Micromelia	HP:0040281	ORPHA:296
3418	IDH2	HP:0000311	Round face	2/7	OMIM:615777
3418	IDH2	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:296
3418	IDH2	HP:0002970	Genu varum	HP:0040283	ORPHA:296
3418	IDH2	HP:0002970	Genu varum	-	OMIM:615777
3418	IDH2	HP:0001638	Cardiomyopathy	-	OMIM:613657
3418	IDH2	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:296
3418	IDH2	HP:0000303	Mandibular prognathia	-	OMIM:131300
3418	IDH2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3418	IDH2	HP:0000470	Short neck	1/7	OMIM:615777
3418	IDH2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3418	IDH2	HP:0001763	Pes planus	1/7	OMIM:615777
3418	IDH2	HP:0006765	Chondrosarcoma	HP:0040283	ORPHA:163634
3418	IDH2	HP:0006765	Chondrosarcoma	HP:0040283	ORPHA:296
3418	IDH2	HP:0001840	Metatarsus adductus	-	OMIM:615777
3418	IDH2	HP:0000520	Proptosis	2/4	OMIM:131300
3418	IDH2	HP:0000520	Proptosis	7/7	OMIM:615777
3418	IDH2	HP:0000592	Blue sclerae	2/7	OMIM:615777
3418	IDH2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3418	IDH2	HP:0012514	Lower limb pain	4/4	OMIM:131300
3419	IDH3A	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
3419	IDH3A	HP:0001133	Constriction of peripheral visual field	3/4	OMIM:619007
3419	IDH3A	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
3419	IDH3A	HP:0025158	Hyperautofluorescent retinal lesion	1/7	OMIM:619007
3419	IDH3A	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
3419	IDH3A	HP:0000007	Autosomal recessive inheritance	-	OMIM:619007
3419	IDH3A	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
3419	IDH3A	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
3419	IDH3A	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
3419	IDH3A	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
3419	IDH3A	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
3419	IDH3A	HP:0007663	Reduced visual acuity	-	OMIM:619007
3419	IDH3A	HP:0003593	Infantile onset	1/7	OMIM:619007
3419	IDH3A	HP:0003621	Juvenile onset	8/19	OMIM:180100
3419	IDH3A	HP:0003621	Juvenile onset	5/7	OMIM:619007
3419	IDH3A	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
3419	IDH3A	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
3419	IDH3A	HP:0000618	Blindness	HP:0040281	ORPHA:791
3419	IDH3A	HP:0000613	Photophobia	HP:0040281	ORPHA:791
3419	IDH3A	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
3419	IDH3A	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
3419	IDH3A	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
3419	IDH3A	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
3419	IDH3A	HP:0000662	Nyctalopia	26/28	OMIM:180100
3419	IDH3A	HP:0000662	Nyctalopia	7/7	OMIM:619007
3419	IDH3A	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
3419	IDH3A	HP:0011463	Childhood onset	3/19	OMIM:180100
3419	IDH3A	HP:0011463	Childhood onset	1/7	OMIM:619007
3419	IDH3A	HP:0011462	Young adult onset	8/19	OMIM:180100
3419	IDH3A	HP:0030786	Photopsia	HP:0040283	ORPHA:791
3419	IDH3A	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
3419	IDH3A	HP:0011505	Cystoid macular edema	1/7	OMIM:619007
3419	IDH3A	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
3419	IDH3A	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
3419	IDH3A	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:619007
3419	IDH3A	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
3419	IDH3A	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
3419	IDH3A	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
3419	IDH3A	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
3419	IDH3A	HP:0007737	Bone spicule pigmentation of the retina	2/7	OMIM:619007
3419	IDH3A	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
3419	IDH3A	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
3419	IDH3A	HP:0007843	Attenuation of retinal blood vessels	5/7	OMIM:619007
3419	IDH3A	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
3419	IDH3A	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
3419	IDH3A	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
3419	IDH3A	HP:0000486	Strabismus	1/7	OMIM:619007
3419	IDH3A	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
3419	IDH3A	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
3419	IDH3A	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
3419	IDH3A	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
3419	IDH3A	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
3419	IDH3A	HP:0000575	Scotoma	5/18	OMIM:180100
3419	IDH3A	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
3419	IDH3A	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
3419	IDH3A	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
3419	IDH3A	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
3419	IDH3A	HP:0000543	Optic disc pallor	1/1	OMIM:180100
3419	IDH3A	HP:0000545	Myopia	-	OMIM:180100
3420	IDH3B	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
3420	IDH3B	HP:0001133	Constriction of peripheral visual field	2/2	OMIM:612572
3420	IDH3B	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
3420	IDH3B	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
3420	IDH3B	HP:0000007	Autosomal recessive inheritance	-	OMIM:612572
3420	IDH3B	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
3420	IDH3B	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
3420	IDH3B	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
3420	IDH3B	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
3420	IDH3B	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
3420	IDH3B	HP:0003621	Juvenile onset	8/19	OMIM:180100
3420	IDH3B	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
3420	IDH3B	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
3420	IDH3B	HP:0000618	Blindness	HP:0040281	ORPHA:791
3420	IDH3B	HP:0000613	Photophobia	HP:0040281	ORPHA:791
3420	IDH3B	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
3420	IDH3B	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
3420	IDH3B	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
3420	IDH3B	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
3420	IDH3B	HP:0000662	Nyctalopia	26/28	OMIM:180100
3420	IDH3B	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	2/2	OMIM:612572
3420	IDH3B	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
3420	IDH3B	HP:0011463	Childhood onset	3/19	OMIM:180100
3420	IDH3B	HP:0011462	Young adult onset	8/19	OMIM:180100
3420	IDH3B	HP:0030786	Photopsia	HP:0040283	ORPHA:791
3420	IDH3B	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
3420	IDH3B	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
3420	IDH3B	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
3420	IDH3B	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
3420	IDH3B	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
3420	IDH3B	HP:0007787	Posterior subcapsular cataract	1/2	OMIM:612572
3420	IDH3B	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
3420	IDH3B	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
3420	IDH3B	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
3420	IDH3B	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
3420	IDH3B	HP:0007843	Attenuation of retinal blood vessels	2/2	OMIM:612572
3420	IDH3B	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
3420	IDH3B	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
3420	IDH3B	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
3420	IDH3B	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
3420	IDH3B	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
3420	IDH3B	HP:0000510	Rod-cone dystrophy	2/2	OMIM:612572
3420	IDH3B	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
3420	IDH3B	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
3420	IDH3B	HP:0000505	Visual impairment	2/2	OMIM:612572
3420	IDH3B	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
3420	IDH3B	HP:0000580	Pigmentary retinopathy	2/2	OMIM:612572
3420	IDH3B	HP:0000575	Scotoma	5/18	OMIM:180100
3420	IDH3B	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
3420	IDH3B	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
3420	IDH3B	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
3420	IDH3B	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
3420	IDH3B	HP:0000543	Optic disc pallor	1/1	OMIM:180100
3420	IDH3B	HP:0000543	Optic disc pallor	2/2	OMIM:612572
3420	IDH3B	HP:0000545	Myopia	-	OMIM:180100
3423	IDS	HP:0001171	Split hand	-	OMIM:309900
3423	IDS	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3423	IDS	HP:0001293	Cranial nerve compression	-	OMIM:131300
3423	IDS	HP:0001250	Seizure	-	OMIM:309900
3423	IDS	HP:0001252	Hypotonia	2/7	OMIM:615777
3423	IDS	HP:0001249	Intellectual disability	5/7	OMIM:615777
3423	IDS	HP:0001263	Global developmental delay	-	OMIM:615777
3423	IDS	HP:0002515	Waddling gait	54/102	OMIM:131300
3423	IDS	HP:0001371	Flexion contracture	74/109	OMIM:309900
3423	IDS	HP:0001382	Joint hypermobility	-	OMIM:615777
3423	IDS	HP:0000023	Inguinal hernia	-	OMIM:309900
3423	IDS	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3423	IDS	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3423	IDS	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3423	IDS	HP:0001324	Muscle weakness	40/96	OMIM:131300
3423	IDS	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3423	IDS	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3423	IDS	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3423	IDS	HP:0002650	Scoliosis	12/14	OMIM:131300
3423	IDS	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3423	IDS	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3423	IDS	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3423	IDS	HP:0000179	Thick lower lip vermilion	1/1	OMIM:309900
3423	IDS	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3423	IDS	HP:0000158	Macroglossia	-	OMIM:309900
3423	IDS	HP:0000175	Cleft palate	2/7	OMIM:615777
3423	IDS	HP:0002786	Tracheobronchomalacia	-	OMIM:309900
3423	IDS	HP:0001433	Hepatosplenomegaly	101/116	OMIM:309900
3423	IDS	HP:0001419	X-linked recessive inheritance	-	OMIM:309900
3423	IDS	HP:0002014	Diarrhea	-	OMIM:309900
3423	IDS	HP:0002099	Asthma	-	OMIM:309900
3423	IDS	HP:0003388	Easy fatigability	36/76	OMIM:131300
3423	IDS	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3423	IDS	HP:0002187	Intellectual disability, profound	-	OMIM:309900
3423	IDS	HP:0002180	Neurodegeneration	44/136	OMIM:309900
3423	IDS	HP:0002159	Heparan sulfate excretion in urine	-	OMIM:309900
3423	IDS	HP:0010535	Sleep apnea	13/142	OMIM:309900
3423	IDS	HP:0003593	Infantile onset	13/79	OMIM:309900
3423	IDS	HP:0002240	Hepatomegaly	1/1	OMIM:309900
3423	IDS	HP:0003541	Urinary glycosaminoglycan excretion	1/1	OMIM:309900
3423	IDS	HP:0008301	Dermatan sulfate excretion in urine	-	OMIM:309900
3423	IDS	HP:0003510	Severe short stature	7/7	OMIM:615777
3423	IDS	HP:0003510	Severe short stature	-	OMIM:309900
3423	IDS	HP:0003502	Mild short stature	-	OMIM:309900
3423	IDS	HP:0002341	Cervical cord compression	-	OMIM:309900
3423	IDS	HP:0002315	Headache	-	OMIM:131300
3423	IDS	HP:0004976	Knee dislocation	6/7	OMIM:615777
3423	IDS	HP:0009803	Short phalanx of finger	-	OMIM:615777
3423	IDS	HP:0001085	Papilledema	-	OMIM:309900
3423	IDS	HP:0009763	Limb pain	63/92	OMIM:131300
3423	IDS	HP:0003621	Juvenile onset	3/79	OMIM:309900
3423	IDS	HP:0003621	Juvenile onset	-	OMIM:131300
3423	IDS	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3423	IDS	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3423	IDS	HP:6001056	Out-toeing	-	OMIM:131300
3423	IDS	HP:0000651	Diplopia	-	OMIM:131300
3423	IDS	HP:0001956	Truncal obesity	2/7	OMIM:615777
3423	IDS	HP:0001903	Anemia	HP:0040283	OMIM:131300
3423	IDS	HP:0010049	Short metacarpal	-	OMIM:615777
3423	IDS	HP:0000684	Delayed eruption of teeth	-	OMIM:309900
3423	IDS	HP:0000678	Dental crowding	-	OMIM:615777
3423	IDS	HP:0000687	Widely spaced teeth	-	OMIM:309900
3423	IDS	HP:0000670	Carious teeth	-	OMIM:131300
3423	IDS	HP:0011304	Broad thumb	2/7	OMIM:615777
3423	IDS	HP:0000668	Hypodontia	-	OMIM:615777
3423	IDS	HP:0000664	Synophrys	-	OMIM:615777
3423	IDS	HP:0004322	Short stature	82/210	OMIM:309900
3423	IDS	HP:0004389	Intestinal pseudo-obstruction	-	OMIM:309900
3423	IDS	HP:0004396	Poor appetite	-	OMIM:131300
3423	IDS	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3423	IDS	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3423	IDS	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3423	IDS	HP:0003026	Short long bone	7/7	OMIM:615777
3423	IDS	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3423	IDS	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3423	IDS	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3423	IDS	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3423	IDS	HP:0000750	Delayed speech and language development	-	OMIM:615777
3423	IDS	HP:0011463	Childhood onset	63/79	OMIM:309900
3423	IDS	HP:0011462	Young adult onset	1/1	OMIM:309900
3423	IDS	HP:0011461	Fetal onset	7/7	OMIM:615777
3423	IDS	HP:0000774	Narrow chest	2/7	OMIM:615777
3423	IDS	HP:0030799	Scaphocephaly	-	OMIM:309900
3423	IDS	HP:0000926	Platyspondyly	1/7	OMIM:615777
3423	IDS	HP:0003180	Flat acetabular roof	-	OMIM:615777
3423	IDS	HP:0004482	Relative macrocephaly	-	OMIM:615777
3423	IDS	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3423	IDS	HP:0034203	Decreased iduronate sulfatase level	1/1	OMIM:309900
3423	IDS	HP:0000823	Delayed puberty	-	OMIM:131300
3423	IDS	HP:0000894	Short clavicles	-	OMIM:615777
3423	IDS	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3423	IDS	HP:0000998	Hypertrichosis	-	OMIM:309900
3423	IDS	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3423	IDS	HP:0000943	Dysostosis multiplex	99/126	OMIM:309900
3423	IDS	HP:0007703	Abnormality of retinal pigmentation	-	OMIM:309900
3423	IDS	HP:0000286	Epicanthus	1/7	OMIM:615777
3423	IDS	HP:0000280	Coarse facial features	137/142	OMIM:309900
3423	IDS	HP:0000280	Coarse facial features	2/7	OMIM:615777
3423	IDS	HP:0000256	Macrocephaly	115/131	OMIM:309900
3423	IDS	HP:0000268	Dolichocephaly	-	OMIM:309900
3423	IDS	HP:0002827	Hip dislocation	3/7	OMIM:615777
3423	IDS	HP:0002808	Kyphosis	-	OMIM:309900
3423	IDS	HP:0000238	Hydrocephalus	-	OMIM:309900
3423	IDS	HP:0000252	Microcephaly	-	OMIM:615777
3423	IDS	HP:0002857	Genu valgum	-	OMIM:131300
3423	IDS	HP:0002870	Obstructive sleep apnea	-	OMIM:309900
3423	IDS	HP:0001537	Umbilical hernia	-	OMIM:309900
3423	IDS	HP:0001533	Slender build	-	OMIM:131300
3423	IDS	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3423	IDS	HP:0007807	Optic nerve compression	-	OMIM:131300
3423	IDS	HP:0012368	Flat face	7/7	OMIM:615777
3423	IDS	HP:0006532	Recurrent pneumonia	7/142	OMIM:309900
3423	IDS	HP:0006536	Airway obstruction	10/142	OMIM:309900
3423	IDS	HP:0001609	Hoarse voice	-	OMIM:309900
3423	IDS	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3423	IDS	HP:0000365	Hearing impairment	22/84	OMIM:309900
3423	IDS	HP:0000365	Hearing impairment	10/67	OMIM:131300
3423	IDS	HP:0000343	Long philtrum	1/7	OMIM:615777
3423	IDS	HP:0011001	Increased bone mineral density	-	OMIM:131300
3423	IDS	HP:0000311	Round face	2/7	OMIM:615777
3423	IDS	HP:0001654	Abnormal heart valve morphology	-	OMIM:309900
3423	IDS	HP:0002970	Genu varum	-	OMIM:615777
3423	IDS	HP:0001635	Congestive heart failure	-	OMIM:309900
3423	IDS	HP:0000303	Mandibular prognathia	-	OMIM:131300
3423	IDS	HP:0000403	Recurrent otitis media	-	OMIM:309900
3423	IDS	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3423	IDS	HP:0000470	Short neck	-	OMIM:309900
3423	IDS	HP:0000470	Short neck	1/7	OMIM:615777
3423	IDS	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3423	IDS	HP:0001763	Pes planus	1/7	OMIM:615777
3423	IDS	HP:0001744	Splenomegaly	1/1	OMIM:309900
3423	IDS	HP:0001761	Pes cavus	-	OMIM:309900
3423	IDS	HP:0001840	Metatarsus adductus	-	OMIM:615777
3423	IDS	HP:0000520	Proptosis	2/4	OMIM:131300
3423	IDS	HP:0000520	Proptosis	7/7	OMIM:615777
3423	IDS	HP:0000508	Ptosis	-	OMIM:309900
3423	IDS	HP:0000592	Blue sclerae	2/7	OMIM:615777
3423	IDS	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3423	IDS	HP:0012514	Lower limb pain	4/4	OMIM:131300
3425	IDUA	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:93473
3425	IDUA	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:93476
3425	IDUA	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3425	IDUA	HP:0001293	Cranial nerve compression	-	OMIM:131300
3425	IDUA	HP:0001252	Hypotonia	HP:0040281	ORPHA:93473
3425	IDUA	HP:0001252	Hypotonia	2/7	OMIM:615777
3425	IDUA	HP:0001249	Intellectual disability	-	OMIM:607014
3425	IDUA	HP:0001249	Intellectual disability	0/3	OMIM:607016
3425	IDUA	HP:0001249	Intellectual disability	HP:0040281	ORPHA:93473
3425	IDUA	HP:0001249	Intellectual disability	5/7	OMIM:615777
3425	IDUA	HP:0001263	Global developmental delay	-	OMIM:607014
3425	IDUA	HP:0001263	Global developmental delay	HP:0040281	ORPHA:93473
3425	IDUA	HP:0001263	Global developmental delay	-	OMIM:615777
3425	IDUA	HP:0002515	Waddling gait	54/102	OMIM:131300
3425	IDUA	HP:0008802	Hypoplasia of the femoral head	-	OMIM:607014
3425	IDUA	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:93474
3425	IDUA	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:93473
3425	IDUA	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:93476
3425	IDUA	HP:0001371	Flexion contracture	-	OMIM:607014
3425	IDUA	HP:0001387	Joint stiffness	1/1	OMIM:607014
3425	IDUA	HP:0001387	Joint stiffness	1/1	OMIM:607015
3425	IDUA	HP:0001387	Joint stiffness	HP:0040283	ORPHA:93474
3425	IDUA	HP:0001382	Joint hypermobility	-	OMIM:615777
3425	IDUA	HP:0000023	Inguinal hernia	-	OMIM:607014
3425	IDUA	HP:0000023	Inguinal hernia	1/1	OMIM:607015
3425	IDUA	HP:0002680	J-shaped sella turcica	-	OMIM:607014
3425	IDUA	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3425	IDUA	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3425	IDUA	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3425	IDUA	HP:0001324	Muscle weakness	40/96	OMIM:131300
3425	IDUA	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3425	IDUA	HP:0002673	Coxa valga	-	OMIM:607014
3425	IDUA	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3425	IDUA	HP:0000007	Autosomal recessive inheritance	-	OMIM:607014
3425	IDUA	HP:0000007	Autosomal recessive inheritance	-	OMIM:607016
3425	IDUA	HP:0000007	Autosomal recessive inheritance	-	OMIM:607015
3425	IDUA	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3425	IDUA	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:93473
3425	IDUA	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:93476
3425	IDUA	HP:0002650	Scoliosis	-	OMIM:607015
3425	IDUA	HP:0002650	Scoliosis	HP:0040282	ORPHA:93473
3425	IDUA	HP:0002650	Scoliosis	12/14	OMIM:131300
3425	IDUA	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3425	IDUA	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3425	IDUA	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3425	IDUA	HP:0012185	Constrictive median neuropathy	-	OMIM:607014
3425	IDUA	HP:0012185	Constrictive median neuropathy	-	OMIM:607016
3425	IDUA	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3425	IDUA	HP:0000158	Macroglossia	1/1	OMIM:607014
3425	IDUA	HP:0000158	Macroglossia	HP:0040282	ORPHA:93473
3425	IDUA	HP:0001488	Bilateral ptosis	1/1	OMIM:607014
3425	IDUA	HP:0000175	Cleft palate	2/7	OMIM:615777
3425	IDUA	HP:0000154	Wide mouth	HP:0040283	ORPHA:93474
3425	IDUA	HP:0005019	Diaphyseal undertubulation	-	OMIM:607014
3425	IDUA	HP:6000910	Diminished tissue alpha-L-iduronidase activity	10/10	OMIM:607014
3425	IDUA	HP:0002777	Tracheal stenosis	-	OMIM:607015
3425	IDUA	HP:0001433	Hepatosplenomegaly	1/1	OMIM:607014
3425	IDUA	HP:0002028	Chronic diarrhea	HP:0040282	ORPHA:93473
3425	IDUA	HP:0002007	Frontal bossing	1/1	OMIM:607014
3425	IDUA	HP:0002007	Frontal bossing	HP:0040281	ORPHA:93473
3425	IDUA	HP:0003311	Hypoplasia of the odontoid process	-	OMIM:607014
3425	IDUA	HP:0003320	C1-C2 subluxation	11/30	OMIM:607014
3425	IDUA	HP:0003302	Spondylolisthesis	-	OMIM:607016
3425	IDUA	HP:0002092	Pulmonary arterial hypertension	-	OMIM:607015
3425	IDUA	HP:0003393	Thenar muscle atrophy	1/1	OMIM:607015
3425	IDUA	HP:0003388	Easy fatigability	36/76	OMIM:131300
3425	IDUA	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3425	IDUA	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:93473
3425	IDUA	HP:0008155	Mucopolysacchariduria	HP:0040281	ORPHA:93474
3425	IDUA	HP:0008155	Mucopolysacchariduria	HP:0040281	ORPHA:93473
3425	IDUA	HP:0003468	Abnormal vertebral morphology	HP:0040281	ORPHA:93473
3425	IDUA	HP:0003468	Abnormal vertebral morphology	HP:0040281	ORPHA:93476
3425	IDUA	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:93473
3425	IDUA	HP:0003416	Spinal canal stenosis	HP:0040282	ORPHA:93476
3425	IDUA	HP:0002180	Neurodegeneration	-	OMIM:607014
3425	IDUA	HP:0002159	Heparan sulfate excretion in urine	1/1	OMIM:607014
3425	IDUA	HP:0002159	Heparan sulfate excretion in urine	1/1	OMIM:607015
3425	IDUA	HP:0100490	Camptodactyly of finger	1/1	OMIM:607015
3425	IDUA	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:93473
3425	IDUA	HP:0046505	Hand pain	1/1	OMIM:607015
3425	IDUA	HP:0002240	Hepatomegaly	-	OMIM:607014
3425	IDUA	HP:0002240	Hepatomegaly	-	OMIM:607015
3425	IDUA	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:93474
3425	IDUA	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:93473
3425	IDUA	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:93476
3425	IDUA	HP:0002230	Generalized hirsutism	HP:0040281	ORPHA:93473
3425	IDUA	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:93476
3425	IDUA	HP:0003541	Urinary glycosaminoglycan excretion	-	OMIM:607014
3425	IDUA	HP:0002205	Recurrent respiratory infections	4/12	OMIM:607014
3425	IDUA	HP:0002205	Recurrent respiratory infections	-	OMIM:607015
3425	IDUA	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:93473
3425	IDUA	HP:0100765	Abnormality of the tonsils	HP:0040281	ORPHA:93473
3425	IDUA	HP:0100765	Abnormality of the tonsils	HP:0040281	ORPHA:93476
3425	IDUA	HP:0100790	Hernia	HP:0040281	ORPHA:93473
3425	IDUA	HP:0100790	Hernia	HP:0040281	ORPHA:93476
3425	IDUA	HP:0100790	Hernia	-	OMIM:607014
3425	IDUA	HP:0100729	Large face	HP:0040281	ORPHA:93473
3425	IDUA	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	1/1	OMIM:607015
3425	IDUA	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:93473
3425	IDUA	HP:0008301	Dermatan sulfate excretion in urine	1/1	OMIM:607014
3425	IDUA	HP:0008301	Dermatan sulfate excretion in urine	1/1	OMIM:607015
3425	IDUA	HP:0003510	Severe short stature	7/7	OMIM:615777
3425	IDUA	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:93473
3425	IDUA	HP:0002344	Progressive neurologic deterioration	-	OMIM:607014
3425	IDUA	HP:0002341	Cervical cord compression	-	OMIM:607016
3425	IDUA	HP:0001007	Hirsutism	-	OMIM:607014
3425	IDUA	HP:0001007	Hirsutism	-	OMIM:607015
3425	IDUA	HP:0002315	Headache	-	OMIM:131300
3425	IDUA	HP:0004976	Knee dislocation	6/7	OMIM:615777
3425	IDUA	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:93474
3425	IDUA	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:93473
3425	IDUA	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:93473
3425	IDUA	HP:0009811	Abnormality of the elbow	HP:0040282	ORPHA:93473
3425	IDUA	HP:0001072	Thickened skin	-	OMIM:607015
3425	IDUA	HP:0009803	Short phalanx of finger	-	OMIM:615777
3425	IDUA	HP:0009763	Limb pain	63/92	OMIM:131300
3425	IDUA	HP:0003621	Juvenile onset	-	OMIM:131300
3425	IDUA	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3425	IDUA	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3425	IDUA	HP:6001056	Out-toeing	-	OMIM:131300
3425	IDUA	HP:0000651	Diplopia	-	OMIM:131300
3425	IDUA	HP:0001956	Truncal obesity	2/7	OMIM:615777
3425	IDUA	HP:0001903	Anemia	HP:0040283	OMIM:131300
3425	IDUA	HP:0010049	Short metacarpal	-	OMIM:615777
3425	IDUA	HP:0000678	Dental crowding	-	OMIM:615777
3425	IDUA	HP:0000691	Microdontia	-	OMIM:607014
3425	IDUA	HP:0000670	Carious teeth	-	OMIM:131300
3425	IDUA	HP:0011304	Broad thumb	2/7	OMIM:615777
3425	IDUA	HP:0000668	Hypodontia	-	OMIM:615777
3425	IDUA	HP:0000664	Synophrys	-	OMIM:615777
3425	IDUA	HP:0004322	Short stature	-	OMIM:607014
3425	IDUA	HP:0004322	Short stature	-	OMIM:607015
3425	IDUA	HP:0004322	Short stature	HP:0040282	ORPHA:93473
3425	IDUA	HP:0004322	Short stature	HP:0040281	ORPHA:93476
3425	IDUA	HP:0004396	Poor appetite	-	OMIM:131300
3425	IDUA	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3425	IDUA	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3425	IDUA	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3425	IDUA	HP:0003016	Metaphyseal widening	1/1	OMIM:607014
3425	IDUA	HP:0003026	Short long bone	7/7	OMIM:615777
3425	IDUA	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3425	IDUA	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:93473
3425	IDUA	HP:0100021	Cerebral palsy	HP:0040281	ORPHA:93474
3425	IDUA	HP:0100021	Cerebral palsy	HP:0040281	ORPHA:93473
3425	IDUA	HP:0011400	Abnormal CNS myelination	-	OMIM:607014
3425	IDUA	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3425	IDUA	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3425	IDUA	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3425	IDUA	HP:0000750	Delayed speech and language development	-	OMIM:615777
3425	IDUA	HP:0000716	Depression	HP:0040282	ORPHA:93473
3425	IDUA	HP:0011463	Childhood onset	1/1	OMIM:607015
3425	IDUA	HP:0011461	Fetal onset	7/7	OMIM:615777
3425	IDUA	HP:0000774	Narrow chest	2/7	OMIM:615777
3425	IDUA	HP:0004437	Cranial hyperostosis	1/1	OMIM:607014
3425	IDUA	HP:0040129	Abnormal nerve conduction velocity	HP:0040281	ORPHA:93474
3425	IDUA	HP:0040129	Abnormal nerve conduction velocity	HP:0040283	ORPHA:93473
3425	IDUA	HP:0040129	Abnormal nerve conduction velocity	HP:0040282	ORPHA:93476
3425	IDUA	HP:0000924	Abnormality of the skeletal system	HP:0040281	ORPHA:93474
3425	IDUA	HP:0000924	Abnormality of the skeletal system	HP:0040281	ORPHA:93473
3425	IDUA	HP:0000926	Platyspondyly	1/7	OMIM:615777
3425	IDUA	HP:0003180	Flat acetabular roof	-	OMIM:615777
3425	IDUA	HP:0004482	Relative macrocephaly	-	OMIM:615777
3425	IDUA	HP:0004490	Calvarial hyperostosis	1/1	OMIM:607014
3425	IDUA	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3425	IDUA	HP:0000889	Abnormal clavicle morphology	HP:0040282	ORPHA:93473
3425	IDUA	HP:0000822	Hypertension	HP:0040282	ORPHA:93473
3425	IDUA	HP:0000823	Delayed puberty	-	OMIM:131300
3425	IDUA	HP:0000894	Short clavicles	-	OMIM:615777
3425	IDUA	HP:0000894	Short clavicles	-	OMIM:607014
3425	IDUA	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3425	IDUA	HP:0003275	Narrow pelvis bone	HP:0040282	ORPHA:93473
3425	IDUA	HP:0030812	Enlarged tonsils	-	OMIM:607014
3425	IDUA	HP:0004586	Biconcave vertebral bodies	-	OMIM:607014
3425	IDUA	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3425	IDUA	HP:0000943	Dysostosis multiplex	1/1	OMIM:607014
3425	IDUA	HP:0000943	Dysostosis multiplex	HP:0040283	OMIM:607016
3425	IDUA	HP:0000943	Dysostosis multiplex	1/1	OMIM:607015
3425	IDUA	HP:0000940	Abnormal diaphysis morphology	HP:0040282	ORPHA:93473
3425	IDUA	HP:0000286	Epicanthus	1/7	OMIM:615777
3425	IDUA	HP:0000283	Broad face	-	OMIM:607016
3425	IDUA	HP:0000280	Coarse facial features	1/1	OMIM:607014
3425	IDUA	HP:0000280	Coarse facial features	2/7	OMIM:615777
3425	IDUA	HP:0000280	Coarse facial features	HP:0040282	ORPHA:93474
3425	IDUA	HP:0000280	Coarse facial features	HP:0040281	ORPHA:93473
3425	IDUA	HP:0000280	Coarse facial features	HP:0040281	ORPHA:93476
3425	IDUA	HP:0000293	Full cheeks	-	OMIM:607014
3425	IDUA	HP:0000293	Full cheeks	-	OMIM:607016
3425	IDUA	HP:0000293	Full cheeks	HP:0040281	ORPHA:93473
3425	IDUA	HP:0000256	Macrocephaly	1/1	OMIM:607014
3425	IDUA	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:93473
3425	IDUA	HP:0007759	Opacification of the corneal stroma	-	OMIM:607014
3425	IDUA	HP:0002827	Hip dislocation	3/7	OMIM:615777
3425	IDUA	HP:0002808	Kyphosis	-	OMIM:607014
3425	IDUA	HP:0002808	Kyphosis	-	OMIM:607015
3425	IDUA	HP:0000238	Hydrocephalus	-	OMIM:607014
3425	IDUA	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:93473
3425	IDUA	HP:0000252	Microcephaly	-	OMIM:615777
3425	IDUA	HP:0000212	Gingival overgrowth	-	OMIM:607014
3425	IDUA	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:93474
3425	IDUA	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:93473
3425	IDUA	HP:0002857	Genu valgum	-	OMIM:131300
3425	IDUA	HP:0002857	Genu valgum	-	OMIM:607016
3425	IDUA	HP:0001522	Death in infancy	HP:0040282	ORPHA:93473
3425	IDUA	HP:0002870	Obstructive sleep apnea	-	OMIM:607016
3425	IDUA	HP:0002870	Obstructive sleep apnea	-	OMIM:607015
3425	IDUA	HP:0002869	Flared iliac wing	-	OMIM:607014
3425	IDUA	HP:0001537	Umbilical hernia	1/1	OMIM:607014
3425	IDUA	HP:0001537	Umbilical hernia	1/1	OMIM:607015
3425	IDUA	HP:0001538	Protuberant abdomen	1/1	OMIM:607014
3425	IDUA	HP:0001533	Slender build	-	OMIM:131300
3425	IDUA	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3425	IDUA	HP:0001510	Growth delay	1/1	OMIM:607015
3425	IDUA	HP:0001510	Growth delay	HP:0040282	ORPHA:93473
3425	IDUA	HP:0007807	Optic nerve compression	-	OMIM:131300
3425	IDUA	HP:0012384	Rhinitis	HP:0040283	ORPHA:93474
3425	IDUA	HP:0012384	Rhinitis	HP:0040281	ORPHA:93473
3425	IDUA	HP:0012384	Rhinitis	HP:0040281	ORPHA:93476
3425	IDUA	HP:0012368	Flat face	7/7	OMIM:615777
3425	IDUA	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3425	IDUA	HP:0000365	Hearing impairment	HP:0040283	OMIM:607014
3425	IDUA	HP:0000365	Hearing impairment	HP:0040282	ORPHA:93473
3425	IDUA	HP:0000365	Hearing impairment	10/67	OMIM:131300
3425	IDUA	HP:0000343	Long philtrum	1/7	OMIM:615777
3425	IDUA	HP:0011001	Increased bone mineral density	-	OMIM:131300
3425	IDUA	HP:0001681	Angina pectoris	HP:0040283	ORPHA:93473
3425	IDUA	HP:0000347	Micrognathia	-	OMIM:607015
3425	IDUA	HP:0001650	Aortic valve stenosis	1/1	OMIM:607016
3425	IDUA	HP:0000316	Hypertelorism	1/1	OMIM:607014
3425	IDUA	HP:0000311	Round face	2/7	OMIM:615777
3425	IDUA	HP:0001659	Aortic regurgitation	4/12	OMIM:607014
3425	IDUA	HP:0001659	Aortic regurgitation	-	OMIM:607016
3425	IDUA	HP:0001659	Aortic regurgitation	-	OMIM:607015
3425	IDUA	HP:0001659	Aortic regurgitation	HP:0040281	ORPHA:93474
3425	IDUA	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:93473
3425	IDUA	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:93476
3425	IDUA	HP:0001653	Mitral regurgitation	10/12	OMIM:607014
3425	IDUA	HP:0001653	Mitral regurgitation	-	OMIM:607015
3425	IDUA	HP:0002970	Genu varum	-	OMIM:615777
3425	IDUA	HP:0001638	Cardiomyopathy	-	OMIM:607014
3425	IDUA	HP:0001638	Cardiomyopathy	HP:0040281	ORPHA:93473
3425	IDUA	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:93476
3425	IDUA	HP:0000303	Mandibular prognathia	-	OMIM:131300
3425	IDUA	HP:0000303	Mandibular prognathia	-	OMIM:607016
3425	IDUA	HP:0007957	Corneal opacity	-	OMIM:607014
3425	IDUA	HP:0007957	Corneal opacity	1/1	OMIM:607016
3425	IDUA	HP:0007957	Corneal opacity	1/1	OMIM:607015
3425	IDUA	HP:0007957	Corneal opacity	HP:0040281	ORPHA:93474
3425	IDUA	HP:0007957	Corneal opacity	HP:0040282	ORPHA:93473
3425	IDUA	HP:0007957	Corneal opacity	HP:0040281	ORPHA:93476
3425	IDUA	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:93474
3425	IDUA	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93476
3425	IDUA	HP:0000403	Recurrent otitis media	1/1	OMIM:607014
3425	IDUA	HP:0001706	Endocardial fibroelastosis	11/58	OMIM:607014
3425	IDUA	HP:0001706	Endocardial fibroelastosis	HP:0040283	ORPHA:93473
3425	IDUA	HP:0001718	Mitral stenosis	1/1	OMIM:607016
3425	IDUA	HP:0005280	Depressed nasal bridge	-	OMIM:607014
3425	IDUA	HP:0005280	Depressed nasal bridge	-	OMIM:607016
3425	IDUA	HP:0005280	Depressed nasal bridge	-	OMIM:607015
3425	IDUA	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3425	IDUA	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:93473
3425	IDUA	HP:0012471	Thick vermilion border	1/1	OMIM:607014
3425	IDUA	HP:0012471	Thick vermilion border	-	OMIM:607015
3425	IDUA	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:93474
3425	IDUA	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:93473
3425	IDUA	HP:0000488	Retinopathy	HP:0040282	ORPHA:93473
3425	IDUA	HP:0000463	Anteverted nares	-	OMIM:607014
3425	IDUA	HP:0000463	Anteverted nares	HP:0040281	ORPHA:93473
3425	IDUA	HP:0000455	Broad nasal tip	-	OMIM:607014
3425	IDUA	HP:0000470	Short neck	-	OMIM:607014
3425	IDUA	HP:0000470	Short neck	-	OMIM:607016
3425	IDUA	HP:0000470	Short neck	1/7	OMIM:615777
3425	IDUA	HP:0000470	Short neck	HP:0040281	ORPHA:93473
3425	IDUA	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3425	IDUA	HP:0001763	Pes planus	1/7	OMIM:615777
3425	IDUA	HP:0000445	Wide nose	-	OMIM:607016
3425	IDUA	HP:0001744	Splenomegaly	-	OMIM:607014
3425	IDUA	HP:0001744	Splenomegaly	-	OMIM:607015
3425	IDUA	HP:0001744	Splenomegaly	HP:0040282	ORPHA:93474
3425	IDUA	HP:0001744	Splenomegaly	HP:0040281	ORPHA:93473
3425	IDUA	HP:0001744	Splenomegaly	HP:0040281	ORPHA:93476
3425	IDUA	HP:0000431	Wide nasal bridge	1/1	OMIM:607014
3425	IDUA	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:93473
3425	IDUA	HP:0001761	Pes cavus	-	OMIM:607016
3425	IDUA	HP:0001840	Metatarsus adductus	-	OMIM:615777
3425	IDUA	HP:0000520	Proptosis	2/4	OMIM:131300
3425	IDUA	HP:0000520	Proptosis	7/7	OMIM:615777
3425	IDUA	HP:0000501	Glaucoma	HP:0040283	OMIM:607014
3425	IDUA	HP:0000501	Glaucoma	HP:0040283	OMIM:607016
3425	IDUA	HP:0000501	Glaucoma	HP:0040281	ORPHA:93474
3425	IDUA	HP:0000501	Glaucoma	HP:0040282	ORPHA:93473
3425	IDUA	HP:0000592	Blue sclerae	2/7	OMIM:615777
3425	IDUA	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:93473
3425	IDUA	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3425	IDUA	HP:0012514	Lower limb pain	4/4	OMIM:131300
3425	IDUA	HP:0000546	Retinal degeneration	HP:0040283	OMIM:607014
3425	IDUA	HP:0000546	Retinal degeneration	HP:0040283	OMIM:607016
3426	CFI	HP:0007430	Generalized edema	HP:0040282	ORPHA:244242
3426	CFI	HP:0007401	Macular atrophy	HP:0040283	ORPHA:75376
3426	CFI	HP:0000083	Renal insufficiency	-	OMIM:610984
3426	CFI	HP:0000099	Glomerulonephritis	-	OMIM:610984
3426	CFI	HP:0000093	Proteinuria	-	OMIM:612923
3426	CFI	HP:0000093	Proteinuria	HP:0040282	ORPHA:244242
3426	CFI	HP:0001342	Cerebral hemorrhage	HP:0040284	ORPHA:244242
3426	CFI	HP:0000010	Recurrent urinary tract infections	-	OMIM:610984
3426	CFI	HP:0000007	Autosomal recessive inheritance	-	OMIM:610984
3426	CFI	HP:0000006	Autosomal dominant inheritance	-	OMIM:612923
3426	CFI	HP:0000006	Autosomal dominant inheritance	-	OMIM:615439
3426	CFI	HP:0002633	Vasculitis	-	OMIM:610984
3426	CFI	HP:0002615	Hypotension	HP:0040283	ORPHA:244242
3426	CFI	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:244242
3426	CFI	HP:0410019	Epigastric pain	HP:0040283	ORPHA:244242
3426	CFI	HP:0002018	Nausea	HP:0040283	ORPHA:244242
3426	CFI	HP:0002027	Abdominal pain	HP:0040283	ORPHA:244242
3426	CFI	HP:0002013	Vomiting	HP:0040283	ORPHA:244242
3426	CFI	HP:0100519	Anuria	-	OMIM:612923
3426	CFI	HP:0100598	Pulmonary edema	HP:0040283	ORPHA:244242
3426	CFI	HP:0008151	Prolonged prothrombin time	HP:0040282	ORPHA:244242
3426	CFI	HP:0003418	Back pain	HP:0040283	ORPHA:244242
3426	CFI	HP:0011900	Hypofibrinogenemia	HP:0040282	ORPHA:244242
3426	CFI	HP:0003593	Infantile onset	1/2	OMIM:610984
3426	CFI	HP:0002202	Pleural effusion	HP:0040283	ORPHA:244242
3426	CFI	HP:0001058	Poor wound healing	HP:0040283	ORPHA:244242
3426	CFI	HP:0002315	Headache	HP:0040282	ORPHA:244242
3426	CFI	HP:0100601	Eclampsia	HP:0040283	ORPHA:244242
3426	CFI	HP:0100602	Preeclampsia	HP:0040282	ORPHA:244242
3426	CFI	HP:0200056	Macular scar	-	OMIM:615439
3426	CFI	HP:0003641	Hemoglobinuria	HP:0040283	ORPHA:244242
3426	CFI	HP:0003621	Juvenile onset	-	OMIM:610984
3426	CFI	HP:0030500	Yellow/white lesions of the macula	HP:0040280	ORPHA:75376
3426	CFI	HP:0005521	Disseminated intravascular coagulation	HP:0040283	ORPHA:244242
3426	CFI	HP:0030528	Paracentral scotoma	HP:0040283	ORPHA:75376
3426	CFI	HP:0005575	Hemolytic-uremic syndrome	3/5	OMIM:612923
3426	CFI	HP:0000613	Photophobia	HP:0040283	ORPHA:75376
3426	CFI	HP:0001937	Microangiopathic hemolytic anemia	HP:0040283	ORPHA:244242
3426	CFI	HP:0001937	Microangiopathic hemolytic anemia	3/5	OMIM:612923
3426	CFI	HP:0000608	Macular degeneration	-	OMIM:615439
3426	CFI	HP:0001903	Anemia	-	OMIM:612923
3426	CFI	HP:0001919	Acute kidney injury	-	OMIM:612923
3426	CFI	HP:0001919	Acute kidney injury	HP:0040284	ORPHA:244242
3426	CFI	HP:0030499	Macular drusen	HP:0040280	ORPHA:75376
3426	CFI	HP:0004324	Increased body weight	HP:0040282	ORPHA:244242
3426	CFI	HP:0030629	Perifoveal ring of hyperautofluorescence	HP:0040282	ORPHA:75376
3426	CFI	HP:0030632	Hypoautofluorescent macular lesion	HP:0040282	ORPHA:75376
3426	CFI	HP:0030631	Hyperautofluorescent macular lesion	HP:0040282	ORPHA:75376
3426	CFI	HP:0006946	Recurrent meningitis	1/3	OMIM:610984
3426	CFI	HP:0011419	Placental abruption	HP:0040283	ORPHA:244242
3426	CFI	HP:0011463	Childhood onset	1/2	OMIM:610984
3426	CFI	HP:0011463	Childhood onset	1/3	OMIM:612923
3426	CFI	HP:0011462	Young adult onset	2/3	OMIM:612923
3426	CFI	HP:0000790	Hematuria	-	OMIM:612923
3426	CFI	HP:0003138	Increased blood urea nitrogen	-	OMIM:612923
3426	CFI	HP:0011510	Drusen	-	OMIM:615439
3426	CFI	HP:0011509	Macular hyperpigmentation	HP:0040282	ORPHA:75376
3426	CFI	HP:0011506	Choroidal neovascularization	HP:0040283	ORPHA:75376
3426	CFI	HP:0011506	Choroidal neovascularization	10/20	OMIM:615439
3426	CFI	HP:0003095	Septic arthritis	1/3	OMIM:610984
3426	CFI	HP:0000822	Hypertension	HP:0040282	OMIM:612923
3426	CFI	HP:0030834	Shoulder pain	HP:0040283	ORPHA:244242
3426	CFI	HP:0003259	Elevated circulating creatinine concentration	-	OMIM:612923
3426	CFI	HP:0008071	Maternal hypertension	HP:0040282	ORPHA:244242
3426	CFI	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:75376
3426	CFI	HP:0025574	Macular hemorrhage	HP:0040283	ORPHA:75376
3426	CFI	HP:0025547	Decreased mean corpuscular hemoglobin concentration	HP:0040283	ORPHA:244242
3426	CFI	HP:0007793	Granular macular appearance	HP:0040283	ORPHA:75376
3426	CFI	HP:0007754	Macular dystrophy	HP:0040281	ORPHA:75376
3426	CFI	HP:0012231	Exudative retinal detachment	HP:0040283	ORPHA:75376
3426	CFI	HP:0001581	Recurrent skin infections	-	OMIM:610984
3426	CFI	HP:0012378	Fatigue	HP:0040282	ORPHA:244242
3426	CFI	HP:0031526	Subretinal fluid	HP:0040283	ORPHA:75376
3426	CFI	HP:0011029	Internal hemorrhage	HP:0040284	ORPHA:244242
3426	CFI	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040280	ORPHA:244242
3426	CFI	HP:0012330	Pyelonephritis	-	OMIM:610984
3426	CFI	HP:0007950	Peripapillary chorioretinal atrophy	HP:0040283	ORPHA:75376
3426	CFI	HP:0007937	Reticular pigmentary degeneration	HP:0040281	ORPHA:75376
3426	CFI	HP:0005376	Recurrent Haemophilus influenzae infections	-	OMIM:610984
3426	CFI	HP:0005381	Recurrent meningococcal disease	2/3	OMIM:610984
3426	CFI	HP:0005356	Decreased circulating complement factor I concentration	3/3	OMIM:610984
3426	CFI	HP:0005369	Decreased circulating complement factor H concentration	-	OMIM:610984
3426	CFI	HP:0005366	Recurrent streptococcus pneumoniae infections	-	OMIM:610984
3426	CFI	HP:0000403	Recurrent otitis media	1/3	OMIM:610984
3426	CFI	HP:0011108	Recurrent sinusitis	1/3	OMIM:610984
3426	CFI	HP:0005421	Decreased circulating complement C3 concentration	2/3	OMIM:610984
3426	CFI	HP:0005421	Decreased circulating complement C3 concentration	2/3	OMIM:612923
3426	CFI	HP:0005416	Decreased circulating complement factor B concentration	2/3	OMIM:610984
3426	CFI	HP:0012508	Metamorphopsia	HP:0040282	ORPHA:75376
3426	CFI	HP:0000529	Progressive visual loss	-	OMIM:615439
3426	CFI	HP:0000572	Visual loss	HP:0040281	ORPHA:75376
3426	CFI	HP:0001878	Hemolytic anemia	HP:0040281	ORPHA:244242
3426	CFI	HP:0001873	Thrombocytopenia	-	OMIM:612923
3426	CFI	HP:0001873	Thrombocytopenia	HP:0040280	ORPHA:244242
3431	SP110	HP:0002415	Leukodystrophy	HP:0040283	ORPHA:79124
3431	SP110	HP:0001269	Hemiparesis	HP:0040283	ORPHA:79124
3431	SP110	HP:0001392	Abnormality of the liver	-	OMIM:235550
3431	SP110	HP:0000016	Urinary retention	HP:0040283	ORPHA:79124
3431	SP110	HP:0000007	Autosomal recessive inheritance	-	OMIM:235550
3431	SP110	HP:0031123	Recurrent gastroenteritis	HP:0040282	ORPHA:79124
3431	SP110	HP:0410018	Recurrent ear infections	HP:0040283	ORPHA:79124
3431	SP110	HP:0031218	Inappropriate antidiuretic hormone secretion	HP:0040283	ORPHA:79124
3431	SP110	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:79124
3431	SP110	HP:0001409	Portal hypertension	HP:0040283	ORPHA:79124
3431	SP110	HP:0002743	Recurrent enteroviral infections	HP:0040282	ORPHA:79124
3431	SP110	HP:0002728	Chronic mucocutaneous candidiasis	HP:0040283	ORPHA:79124
3431	SP110	HP:0002722	Recurrent abscess formation	HP:0040283	ORPHA:79124
3431	SP110	HP:0002721	Immunodeficiency	-	OMIM:235550
3431	SP110	HP:0002014	Diarrhea	HP:0040283	ORPHA:79124
3431	SP110	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:79124
3431	SP110	HP:0002100	Recurrent aspiration pneumonia	HP:0040283	ORPHA:79124
3431	SP110	HP:0010550	Paraplegia	HP:0040283	ORPHA:79124
3431	SP110	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:79124
3431	SP110	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:79124
3431	SP110	HP:0002206	Pulmonary fibrosis	HP:0040283	ORPHA:79124
3431	SP110	HP:0002385	Paraparesis	HP:0040283	ORPHA:79124
3431	SP110	HP:0100626	Chronic hepatic failure	HP:0040283	ORPHA:79124
3431	SP110	HP:0001903	Anemia	HP:0040283	ORPHA:79124
3431	SP110	HP:0004315	Decreased circulating IgG concentration	-	OMIM:235550
3431	SP110	HP:0012735	Cough	HP:0040282	ORPHA:79124
3431	SP110	HP:0004429	Recurrent viral infections	HP:0040282	ORPHA:79124
3431	SP110	HP:0003139	Panhypogammaglobulinemia	HP:0040281	ORPHA:79124
3431	SP110	HP:0040088	Abnormal lymphocyte count	HP:0040281	ORPHA:79124
3431	SP110	HP:0040089	Abnormal total natural killer cell count	HP:0040284	ORPHA:79124
3431	SP110	HP:0040223	Pulmonary hemorrhage	HP:0040283	ORPHA:79124
3431	SP110	HP:0000952	Jaundice	HP:0040283	ORPHA:79124
3431	SP110	HP:0000252	Microcephaly	-	OMIM:235550
3431	SP110	HP:0000252	Microcephaly	HP:0040284	ORPHA:79124
3431	SP110	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:79124
3431	SP110	HP:0001541	Ascites	HP:0040283	ORPHA:79124
3431	SP110	HP:0002849	Absence of lymph node germinal center	-	OMIM:235550
3431	SP110	HP:0002849	Absence of lymph node germinal center	HP:0040282	ORPHA:79124
3431	SP110	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:79124
3431	SP110	HP:0006685	Endocardial fibrosis	-	OMIM:235550
3431	SP110	HP:0011117	Abnormal circulating interleukin concentration	HP:0040281	ORPHA:79124
3431	SP110	HP:0005403	Decreased total T cell count	HP:0040282	ORPHA:79124
3431	SP110	HP:0030355	Abnormal circulating interferon-gamma concentration	HP:0040281	ORPHA:79124
3431	SP110	HP:0030374	Decreased proportion of memory B cells	HP:0040282	ORPHA:79124
3431	SP110	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:79124
3431	SP110	HP:0001876	Pancytopenia	HP:0040283	ORPHA:79124
3454	IFNAR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619935
3454	IFNAR1	HP:0003593	Infantile onset	1/2	OMIM:619935
3454	IFNAR1	HP:0020088	Post-vaccination measles	1/1	OMIM:619935
3454	IFNAR1	HP:0003621	Juvenile onset	1/2	OMIM:619935
3454	IFNAR1	HP:0034310	Post-vaccination yellow fever	1/1	OMIM:619935
3455	IFNAR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616669
3455	IFNAR2	HP:0020088	Post-vaccination measles	1/1	OMIM:616669
3458	IFNG	HP:0002465	Poor speech	HP:0040283	ORPHA:805
3458	IFNG	HP:0003774	Stage 5 chronic kidney disease	HP:0040284	ORPHA:805
3458	IFNG	HP:0010953	Noncommunicating hydrocephalus	HP:0040283	ORPHA:805
3458	IFNG	HP:0100804	Ungual fibroma	HP:0040283	ORPHA:805
3458	IFNG	HP:0001250	Seizure	HP:0040281	ORPHA:805
3458	IFNG	HP:0001250	Seizure	129/130	OMIM:613254
3458	IFNG	HP:0001249	Intellectual disability	HP:0040282	ORPHA:805
3458	IFNG	HP:0001249	Intellectual disability	72/97	OMIM:613254
3458	IFNG	HP:0007449	Confetti-like hypopigmented macules	HP:0040282	ORPHA:805
3458	IFNG	HP:0008762	Repetitive compulsive behavior	HP:0040282	ORPHA:805
3458	IFNG	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:805
3458	IFNG	HP:0002539	Cortical dysplasia	HP:0040281	ORPHA:805
3458	IFNG	HP:0002514	Cerebral calcification	-	OMIM:613254
3458	IFNG	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:805
3458	IFNG	HP:0000077	Abnormality of the kidney	HP:0040281	ORPHA:805
3458	IFNG	HP:0001328	Specific learning disability	HP:0040282	ORPHA:805
3458	IFNG	HP:0001328	Specific learning disability	-	OMIM:613254
3458	IFNG	HP:0000007	Autosomal recessive inheritance	-	OMIM:618963
3458	IFNG	HP:0000006	Autosomal dominant inheritance	-	OMIM:613254
3458	IFNG	HP:0002666	Pheochromocytoma	HP:0040284	ORPHA:805
3458	IFNG	HP:0012156	Hemophagocytosis	0/1	OMIM:618963
3458	IFNG	HP:0000169	Gingival fibromatosis	1/1	OMIM:613254
3458	IFNG	HP:0001482	Subcutaneous nodule	-	OMIM:613254
3458	IFNG	HP:0000113	Polycystic kidney dysplasia	HP:0040284	ORPHA:805
3458	IFNG	HP:0000107	Renal cyst	54/122	OMIM:613254
3458	IFNG	HP:0000107	Renal cyst	HP:0040282	ORPHA:805
3458	IFNG	HP:0001433	Hepatosplenomegaly	2/2	OMIM:618963
3458	IFNG	HP:0001407	Hepatic cysts	HP:0040283	ORPHA:805
3458	IFNG	HP:0002719	Recurrent infections	HP:0040283	ORPHA:88
3458	IFNG	HP:0002014	Diarrhea	-	OMIM:618963
3458	IFNG	HP:0002098	Respiratory distress	HP:0040283	ORPHA:805
3458	IFNG	HP:0100570	Carcinoid tumor	HP:0040284	ORPHA:805
3458	IFNG	HP:0002133	Status epilepticus	HP:0040282	ORPHA:805
3458	IFNG	HP:0002105	Hemoptysis	HP:0040283	ORPHA:805
3458	IFNG	HP:0008208	Parathyroid hyperplasia	HP:0040284	ORPHA:805
3458	IFNG	HP:0009592	Astrocytoma	-	OMIM:613254
3458	IFNG	HP:0009594	Retinal hamartoma	35/124	OMIM:613254
3458	IFNG	HP:0009594	Retinal hamartoma	HP:0040282	ORPHA:805
3458	IFNG	HP:0003593	Infantile onset	1/1	OMIM:613254
3458	IFNG	HP:0003593	Infantile onset	2/2	OMIM:618963
3458	IFNG	HP:0100710	Impulsivity	HP:0040282	ORPHA:805
3458	IFNG	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:805
3458	IFNG	HP:0009727	Achromatic retinal patches	-	OMIM:613254
3458	IFNG	HP:0009729	Cardiac rhabdomyoma	59/119	OMIM:613254
3458	IFNG	HP:0009729	Cardiac rhabdomyoma	HP:0040282	ORPHA:805
3458	IFNG	HP:0009734	Optic nerve glioma	-	OMIM:613254
3458	IFNG	HP:0009717	Cortical tubers	60/67	OMIM:613254
3458	IFNG	HP:0009717	Cortical tubers	HP:0040281	ORPHA:805
3458	IFNG	HP:0009716	Subependymal nodules	133/143	OMIM:613254
3458	IFNG	HP:0009716	Subependymal nodules	HP:0040281	ORPHA:805
3458	IFNG	HP:0009719	Hypomelanotic macule	131/138	OMIM:613254
3458	IFNG	HP:0009719	Hypomelanotic macule	HP:0040281	ORPHA:805
3458	IFNG	HP:0009718	Subependymal giant-cell astrocytoma	13/118	OMIM:613254
3458	IFNG	HP:0009718	Subependymal giant-cell astrocytoma	HP:0040283	ORPHA:805
3458	IFNG	HP:0009720	Adenoma sebaceum	1/1	OMIM:613254
3458	IFNG	HP:0009722	Dental enamel pits	1/1	OMIM:613254
3458	IFNG	HP:0009721	Shagreen patch	71/138	OMIM:613254
3458	IFNG	HP:0009721	Shagreen patch	HP:0040282	ORPHA:805
3458	IFNG	HP:0009724	Subungual fibromas	27/129	OMIM:613254
3458	IFNG	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:805
3458	IFNG	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:613254
3458	IFNG	HP:0010615	Angiofibromas	99/128	OMIM:613254
3458	IFNG	HP:0010615	Angiofibromas	HP:0040282	ORPHA:805
3458	IFNG	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:805
3458	IFNG	HP:0020086	BCGitis	1/2	OMIM:618963
3458	IFNG	HP:0020087	BCGosis	1/2	OMIM:618963
3458	IFNG	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:805
3458	IFNG	HP:0007206	Hemimegalencephaly	-	OMIM:613254
3458	IFNG	HP:0200035	Skin plaque	HP:0040282	ORPHA:805
3458	IFNG	HP:0200040	Epidermoid cyst	HP:0040283	ORPHA:805
3458	IFNG	HP:0010762	Chordoma	-	OMIM:613254
3458	IFNG	HP:0004942	Aortic aneurysm	HP:0040284	ORPHA:805
3458	IFNG	HP:0005528	Bone marrow hypocellularity	-	OMIM:609135
3458	IFNG	HP:0005528	Bone marrow hypocellularity	HP:0040281	ORPHA:88
3458	IFNG	HP:0005584	Renal cell carcinoma	-	OMIM:613254
3458	IFNG	HP:0005584	Renal cell carcinoma	HP:0040284	ORPHA:805
3458	IFNG	HP:0005564	Absence of renal corticomedullary differentiation	1/1	OMIM:613254
3458	IFNG	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:805
3458	IFNG	HP:0001974	Increased total leukocyte count	2/2	OMIM:618963
3458	IFNG	HP:0001945	Fever	2/2	OMIM:618963
3458	IFNG	HP:0001903	Anemia	HP:0040280	ORPHA:88
3458	IFNG	HP:0001903	Anemia	2/2	OMIM:618963
3458	IFNG	HP:0001915	Aplastic anemia	HP:0040280	OMIM:609135
3458	IFNG	HP:0011354	Generalized abnormality of skin	HP:0040281	ORPHA:805
3458	IFNG	HP:0034198	Second trimester onset	1/1	OMIM:613254
3458	IFNG	HP:0000752	Hyperactivity	HP:0040282	ORPHA:805
3458	IFNG	HP:0000739	Anxiety	HP:0040283	ORPHA:805
3458	IFNG	HP:0000716	Depression	HP:0040282	ORPHA:805
3458	IFNG	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:805
3458	IFNG	HP:0000717	Autism	32/75	OMIM:613254
3458	IFNG	HP:0000717	Autism	HP:0040282	ORPHA:805
3458	IFNG	HP:0000729	Autistic behavior	HP:0040282	ORPHA:805
3458	IFNG	HP:0000708	Atypical behavior	HP:0040281	ORPHA:805
3458	IFNG	HP:0012798	Pulmonary lymphangiomyomatosis	4/24	OMIM:613254
3458	IFNG	HP:0012798	Pulmonary lymphangiomyomatosis	HP:0040282	ORPHA:805
3458	IFNG	HP:0012778	Retinal astrocytic hamartoma	HP:0040284	ORPHA:805
3458	IFNG	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:805
3458	IFNG	HP:0000826	Precocious puberty	-	OMIM:613254
3458	IFNG	HP:0000822	Hypertension	HP:0040283	ORPHA:805
3458	IFNG	HP:0000821	Hypothyroidism	-	OMIM:613254
3458	IFNG	HP:0040030	Chorioretinal hypopigmentation	HP:0040282	ORPHA:805
3458	IFNG	HP:0003281	Increased circulating ferritin concentration	-	OMIM:618963
3458	IFNG	HP:0000988	Skin rash	-	OMIM:618963
3458	IFNG	HP:0000957	Cafe-au-lait spot	-	OMIM:613254
3458	IFNG	HP:0030057	Autoimmune antibody positivity	-	ORPHA:88
3458	IFNG	HP:0002897	Parathyroid adenoma	HP:0040284	ORPHA:805
3458	IFNG	HP:0002878	Respiratory failure	HP:0040284	ORPHA:805
3458	IFNG	HP:0002893	Pituitary adenoma	HP:0040284	ORPHA:805
3458	IFNG	HP:0002888	Ependymoma	-	OMIM:613254
3458	IFNG	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:88
3458	IFNG	HP:0031364	Ecchymosis	HP:0040283	ORPHA:88
3458	IFNG	HP:0001508	Failure to thrive	-	OMIM:618963
3458	IFNG	HP:0011097	Epileptic spasm	-	OMIM:613254
3458	IFNG	HP:0011097	Epileptic spasm	HP:0040282	ORPHA:805
3458	IFNG	HP:0011029	Internal hemorrhage	HP:0040284	ORPHA:805
3458	IFNG	HP:0000365	Hearing impairment	1/1	OMIM:613254
3458	IFNG	HP:0001662	Bradycardia	1/2	OMIM:613254
3458	IFNG	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:613254
3458	IFNG	HP:0012469	Infantile spasms	43/76	OMIM:613254
3458	IFNG	HP:0012469	Infantile spasms	HP:0040282	ORPHA:805
3458	IFNG	HP:0012433	Abnormal social behavior	HP:0040282	ORPHA:805
3458	IFNG	HP:0001744	Splenomegaly	-	OMIM:618963
3458	IFNG	HP:0000421	Epistaxis	HP:0040283	ORPHA:88
3458	IFNG	HP:0030405	Pancreatic endocrine tumor	HP:0040284	ORPHA:805
3458	IFNG	HP:0006772	Renal angiomyolipoma	4/8	OMIM:613254
3458	IFNG	HP:0006772	Renal angiomyolipoma	HP:0040283	ORPHA:805
3458	IFNG	HP:0001894	Thrombocytosis	-	OMIM:618963
3458	IFNG	HP:0000573	Retinal hemorrhage	HP:0040283	ORPHA:88
3458	IFNG	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:88
3458	IFNG	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:88
3458	IFNG	HP:0001876	Pancytopenia	HP:0040282	ORPHA:88
3458	IFNG	HP:0001876	Pancytopenia	-	OMIM:618963
3458	IFNG	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:88
3459	IFNGR1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0001269	Hemiparesis	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0001287	Meningitis	HP:0040281	ORPHA:117
3459	IFNGR1	HP:0001289	Confusion	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0001250	Seizure	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0001251	Ataxia	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0000099	Glomerulonephritis	HP:0040284	ORPHA:117
3459	IFNGR1	HP:0008802	Hypoplasia of the femoral head	-	OMIM:209950
3459	IFNGR1	HP:0001369	Arthritis	HP:0040281	ORPHA:117
3459	IFNGR1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0000031	Epididymitis	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:209950
3459	IFNGR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615978
3459	IFNGR1	HP:0002638	Superficial thrombophlebitis	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0002633	Vasculitis	HP:0040281	ORPHA:117
3459	IFNGR1	HP:0000155	Oral ulcer	HP:0040281	ORPHA:117
3459	IFNGR1	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:117
3459	IFNGR1	HP:0012121	Panuveitis	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0025427	Abnormal bronchus physiology	-	OMIM:209950
3459	IFNGR1	HP:0008940	Generalized lymphadenopathy	-	OMIM:615978
3459	IFNGR1	HP:0002754	Osteomyelitis	-	OMIM:615978
3459	IFNGR1	HP:0001433	Hepatosplenomegaly	-	OMIM:209950
3459	IFNGR1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0002716	Lymphadenopathy	-	OMIM:209950
3459	IFNGR1	HP:0002721	Immunodeficiency	-	OMIM:615978
3459	IFNGR1	HP:0002024	Malabsorption	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:117
3459	IFNGR1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0003326	Myalgia	HP:0040281	ORPHA:117
3459	IFNGR1	HP:0002014	Diarrhea	HP:0040284	ORPHA:117
3459	IFNGR1	HP:0002014	Diarrhea	-	OMIM:209950
3459	IFNGR1	HP:0002090	Pneumonia	-	OMIM:209950
3459	IFNGR1	HP:0002076	Migraine	HP:0040281	ORPHA:117
3459	IFNGR1	HP:0002039	Anorexia	-	OMIM:209950
3459	IFNGR1	HP:0002039	Anorexia	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0100584	Endocarditis	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0002102	Pleuritis	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0002113	Pulmonary infiltrates	-	OMIM:209950
3459	IFNGR1	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0002105	Hemoptysis	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0003496	Increased circulating IgM level	-	OMIM:209950
3459	IFNGR1	HP:0003401	Paresthesia	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0003565	Elevated erythrocyte sedimentation rate	-	OMIM:209950
3459	IFNGR1	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0002202	Pleural effusion	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0100796	Orchitis	HP:0040281	ORPHA:117
3459	IFNGR1	HP:0100727	Histiocytosis	-	OMIM:209950
3459	IFNGR1	HP:0100758	Gangrene	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0001061	Acne	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0002376	Developmental regression	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0002354	Memory impairment	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0002321	Vertigo	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0002315	Headache	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0100653	Optic neuritis	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0100654	Retrobulbar optic neuritis	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0200034	Papule	HP:0040281	ORPHA:117
3459	IFNGR1	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0100614	Myositis	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0025043	Enlarged mesenteric lymph node	-	OMIM:209950
3459	IFNGR1	HP:0200039	Pustule	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:117
3459	IFNGR1	HP:4000041	AA amyloidosis	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0001974	Increased total leukocyte count	-	OMIM:209950
3459	IFNGR1	HP:0000618	Blindness	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0000613	Photophobia	HP:0040281	ORPHA:117
3459	IFNGR1	HP:0001945	Fever	HP:0040281	ORPHA:117
3459	IFNGR1	HP:0001945	Fever	-	OMIM:209950
3459	IFNGR1	HP:0001954	Recurrent fever	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0001903	Anemia	-	OMIM:209950
3459	IFNGR1	HP:0012649	Increased inflammatory response	-	OMIM:209950
3459	IFNGR1	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0005661	Salmonella osteomyelitis	-	OMIM:209950
3459	IFNGR1	HP:0005661	Salmonella osteomyelitis	-	OMIM:615978
3459	IFNGR1	HP:0003073	Hypoalbuminemia	-	OMIM:209950
3459	IFNGR1	HP:0000737	Irritability	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0100326	Immunologic hypersensitivity	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0012819	Myocarditis	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0003237	Increased circulating IgG concentration	-	OMIM:209950
3459	IFNGR1	HP:0003249	Genital ulcers	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0002829	Arthralgia	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0025532	Positive pathergy test	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0012219	Erythema nodosum	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0007813	Nongranulomatous uveitis	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0012378	Fatigue	HP:0040281	ORPHA:117
3459	IFNGR1	HP:0005202	Helicobacter pylori infection	-	OMIM:600263
3459	IFNGR1	HP:0002923	Rheumatoid factor positive	-	OMIM:209950
3459	IFNGR1	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0030166	Night sweats	-	OMIM:209950
3459	IFNGR1	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0001733	Pancreatitis	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0001701	Pericarditis	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0000488	Retinopathy	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0011107	Recurrent aphthous stomatitis	HP:0040281	ORPHA:117
3459	IFNGR1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0001744	Splenomegaly	-	OMIM:209950
3459	IFNGR1	HP:0011275	Recurrent mycobacterium avium complex infections	-	OMIM:615978
3459	IFNGR1	HP:0011274	Recurrent mycobacterial infections	-	OMIM:615978
3459	IFNGR1	HP:0000518	Cataract	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0001824	Weight loss	HP:0040283	ORPHA:117
3459	IFNGR1	HP:0001824	Weight loss	-	OMIM:209950
3459	IFNGR1	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:117
3459	IFNGR1	HP:0001894	Thrombocytosis	-	OMIM:209950
3460	IFNGR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614889
3460	IFNGR2	HP:0002721	Immunodeficiency	-	OMIM:614889
3460	IFNGR2	HP:0011274	Recurrent mycobacterial infections	-	OMIM:614889
3475	IFRD1	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:98771
3475	IFRD1	HP:0001284	Areflexia	HP:0040281	ORPHA:98771
3475	IFRD1	HP:0001260	Dysarthria	HP:0040282	ORPHA:98771
3475	IFRD1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:98771
3475	IFRD1	HP:0001310	Dysmetria	HP:0040282	ORPHA:98771
3475	IFRD1	HP:0002600	Hyporeflexia of lower limbs	HP:0040282	ORPHA:98771
3475	IFRD1	HP:0002066	Gait ataxia	HP:0040281	ORPHA:98771
3475	IFRD1	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:98771
3475	IFRD1	HP:0003474	Somatic sensory dysfunction	HP:0040281	ORPHA:98771
3475	IFRD1	HP:0010546	Muscle fibrillation	HP:0040282	ORPHA:98771
3475	IFRD1	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:98771
3475	IFRD1	HP:0002346	Head tremor	HP:0040283	ORPHA:98771
3475	IFRD1	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:98771
3475	IFRD1	HP:0000639	Nystagmus	HP:0040283	ORPHA:98771
3475	IFRD1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:98771
3475	IFRD1	HP:0030187	Titubation	HP:0040283	ORPHA:98771
3475	IFRD1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:98771
3475	IFRD1	HP:0001761	Pes cavus	HP:0040282	ORPHA:98771
3476	IGBP1	HP:0001274	Agenesis of corpus callosum	2/2	OMIM:300472
3476	IGBP1	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:52055
3476	IGBP1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:52055
3476	IGBP1	HP:0001249	Intellectual disability	2/2	OMIM:300472
3476	IGBP1	HP:0008689	Bilateral cryptorchidism	1/2	OMIM:300472
3476	IGBP1	HP:0002650	Scoliosis	HP:0040281	ORPHA:52055
3476	IGBP1	HP:0000193	Bifid uvula	1/2	OMIM:300472
3476	IGBP1	HP:0000175	Cleft palate	HP:0040282	ORPHA:52055
3476	IGBP1	HP:0001419	X-linked recessive inheritance	-	OMIM:300472
3476	IGBP1	HP:0002100	Recurrent aspiration pneumonia	1/2	OMIM:300472
3476	IGBP1	HP:0003577	Congenital onset	2/2	OMIM:300472
3476	IGBP1	HP:0000639	Nystagmus	HP:0040281	ORPHA:52055
3476	IGBP1	HP:0000639	Nystagmus	2/2	OMIM:300472
3476	IGBP1	HP:0000612	Iris coloboma	1/2	OMIM:300472
3476	IGBP1	HP:0000612	Iris coloboma	HP:0040282	ORPHA:52055
3476	IGBP1	HP:0004322	Short stature	HP:0040281	ORPHA:52055
3476	IGBP1	HP:0004322	Short stature	2/2	OMIM:300472
3476	IGBP1	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:52055
3476	IGBP1	HP:0000767	Pectus excavatum	2/2	OMIM:300472
3476	IGBP1	HP:0000278	Retrognathia	2/2	OMIM:300472
3476	IGBP1	HP:0000278	Retrognathia	HP:0040281	ORPHA:52055
3476	IGBP1	HP:0000256	Macrocephaly	HP:0040281	ORPHA:52055
3476	IGBP1	HP:0000256	Macrocephaly	2/2	OMIM:300472
3476	IGBP1	HP:0000218	High palate	HP:0040282	ORPHA:52055
3476	IGBP1	HP:0000218	High palate	2/2	OMIM:300472
3476	IGBP1	HP:0000378	Cupped ear	2/2	OMIM:300472
3476	IGBP1	HP:0000378	Cupped ear	HP:0040281	ORPHA:52055
3476	IGBP1	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:52055
3476	IGBP1	HP:0000394	Lop ear	1/2	OMIM:300472
3476	IGBP1	HP:0006532	Recurrent pneumonia	2/2	OMIM:300472
3476	IGBP1	HP:0002944	Thoracolumbar scoliosis	2/2	OMIM:300472
3476	IGBP1	HP:0000365	Hearing impairment	HP:0040281	ORPHA:52055
3476	IGBP1	HP:0000369	Low-set ears	HP:0040281	ORPHA:52055
3476	IGBP1	HP:0000369	Low-set ears	2/2	OMIM:300472
3476	IGBP1	HP:0000337	Broad forehead	2/2	OMIM:300472
3476	IGBP1	HP:0000348	High forehead	2/2	OMIM:300472
3476	IGBP1	HP:0000348	High forehead	HP:0040281	ORPHA:52055
3476	IGBP1	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:52055
3476	IGBP1	HP:0001643	Patent ductus arteriosus	1/2	OMIM:300472
3476	IGBP1	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:52055
3476	IGBP1	HP:0001629	Ventricular septal defect	1/2	OMIM:300472
3476	IGBP1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:52055
3476	IGBP1	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:300472
3476	IGBP1	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:52055
3476	IGBP1	HP:0000494	Downslanted palpebral fissures	2/2	OMIM:300472
3476	IGBP1	HP:0012450	Chronic constipation	1/2	OMIM:300472
3476	IGBP1	HP:0000475	Broad neck	2/2	OMIM:300472
3476	IGBP1	HP:0000470	Short neck	HP:0040281	ORPHA:52055
3476	IGBP1	HP:0000470	Short neck	2/2	OMIM:300472
3476	IGBP1	HP:0000453	Choanal atresia	1/2	OMIM:300472
3476	IGBP1	HP:0000453	Choanal atresia	HP:0040282	ORPHA:52055
3476	IGBP1	HP:0000410	Mixed hearing impairment	1/2	OMIM:300472
3476	IGBP1	HP:0000426	Prominent nasal bridge	1/2	OMIM:300472
3476	IGBP1	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:52055
3476	IGBP1	HP:0000505	Visual impairment	1/2	OMIM:300472
3476	IGBP1	HP:0000588	Optic disc coloboma	1/2	OMIM:300472
3476	IGBP1	HP:0000588	Optic disc coloboma	HP:0040282	ORPHA:52055
3479	IGF1	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040281	ORPHA:73272
3479	IGF1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3479	IGF1	HP:0001293	Cranial nerve compression	-	OMIM:131300
3479	IGF1	HP:0001270	Motor delay	HP:0040283	ORPHA:73272
3479	IGF1	HP:0001270	Motor delay	1/1	OMIM:608747
3479	IGF1	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:73272
3479	IGF1	HP:0001252	Hypotonia	2/7	OMIM:615777
3479	IGF1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:73272
3479	IGF1	HP:0001249	Intellectual disability	1/1	OMIM:608747
3479	IGF1	HP:0001249	Intellectual disability	5/7	OMIM:615777
3479	IGF1	HP:0001263	Global developmental delay	-	OMIM:615777
3479	IGF1	HP:0002515	Waddling gait	54/102	OMIM:131300
3479	IGF1	HP:0001382	Joint hypermobility	-	OMIM:615777
3479	IGF1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3479	IGF1	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:73272
3479	IGF1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3479	IGF1	HP:0008897	Postnatal growth retardation	1/1	OMIM:608747
3479	IGF1	HP:0008850	Severe postnatal growth retardation	HP:0040281	ORPHA:73272
3479	IGF1	HP:0008846	Severe intrauterine growth retardation	HP:0040281	ORPHA:73272
3479	IGF1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3479	IGF1	HP:0001324	Muscle weakness	40/96	OMIM:131300
3479	IGF1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3479	IGF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608747
3479	IGF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3479	IGF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3479	IGF1	HP:0002650	Scoliosis	12/14	OMIM:131300
3479	IGF1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3479	IGF1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3479	IGF1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3479	IGF1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3479	IGF1	HP:0000175	Cleft palate	2/7	OMIM:615777
3479	IGF1	HP:0000135	Hypogonadism	HP:0040282	ORPHA:73272
3479	IGF1	HP:0000153	Abnormality of the mouth	HP:0040282	ORPHA:73272
3479	IGF1	HP:0006266	Small placenta	HP:0040282	ORPHA:73272
3479	IGF1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:73272
3479	IGF1	HP:0002750	Delayed skeletal maturation	1/1	OMIM:608747
3479	IGF1	HP:0003388	Easy fatigability	36/76	OMIM:131300
3479	IGF1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3479	IGF1	HP:0002162	Low posterior hairline	HP:0040283	ORPHA:73272
3479	IGF1	HP:0003577	Congenital onset	1/1	OMIM:608747
3479	IGF1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040281	ORPHA:73272
3479	IGF1	HP:0003510	Severe short stature	7/7	OMIM:615777
3479	IGF1	HP:0002315	Headache	-	OMIM:131300
3479	IGF1	HP:0004976	Knee dislocation	6/7	OMIM:615777
3479	IGF1	HP:0008527	Congenital sensorineural hearing impairment	HP:0040281	ORPHA:73272
3479	IGF1	HP:0009803	Short phalanx of finger	-	OMIM:615777
3479	IGF1	HP:0009763	Limb pain	63/92	OMIM:131300
3479	IGF1	HP:0003621	Juvenile onset	-	OMIM:131300
3479	IGF1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3479	IGF1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:73272
3479	IGF1	HP:0004209	Clinodactyly of the 5th finger	1/1	OMIM:608747
3479	IGF1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3479	IGF1	HP:6001056	Out-toeing	-	OMIM:131300
3479	IGF1	HP:0000651	Diplopia	-	OMIM:131300
3479	IGF1	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:73272
3479	IGF1	HP:0001956	Truncal obesity	HP:0040283	ORPHA:73272
3479	IGF1	HP:0001956	Truncal obesity	2/7	OMIM:615777
3479	IGF1	HP:0001903	Anemia	HP:0040283	OMIM:131300
3479	IGF1	HP:0010049	Short metacarpal	-	OMIM:615777
3479	IGF1	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:73272
3479	IGF1	HP:0000678	Dental crowding	-	OMIM:615777
3479	IGF1	HP:0000670	Carious teeth	-	OMIM:131300
3479	IGF1	HP:0011304	Broad thumb	2/7	OMIM:615777
3479	IGF1	HP:0000668	Hypodontia	-	OMIM:615777
3479	IGF1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:73272
3479	IGF1	HP:0000664	Synophrys	-	OMIM:615777
3479	IGF1	HP:0004325	Decreased body weight	1/1	OMIM:608747
3479	IGF1	HP:0004322	Short stature	HP:0040281	ORPHA:73272
3479	IGF1	HP:0004322	Short stature	1/1	OMIM:608747
3479	IGF1	HP:0004396	Poor appetite	-	OMIM:131300
3479	IGF1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3479	IGF1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3479	IGF1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3479	IGF1	HP:0003026	Short long bone	7/7	OMIM:615777
3479	IGF1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3479	IGF1	HP:0000752	Hyperactivity	HP:0040281	ORPHA:73272
3479	IGF1	HP:0000752	Hyperactivity	1/1	OMIM:608747
3479	IGF1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3479	IGF1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3479	IGF1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3479	IGF1	HP:0000736	Short attention span	HP:0040281	ORPHA:73272
3479	IGF1	HP:0000736	Short attention span	1/1	OMIM:608747
3479	IGF1	HP:0000750	Delayed speech and language development	-	OMIM:615777
3479	IGF1	HP:0000708	Atypical behavior	HP:0040281	ORPHA:73272
3479	IGF1	HP:0011461	Fetal onset	7/7	OMIM:615777
3479	IGF1	HP:0000774	Narrow chest	2/7	OMIM:615777
3479	IGF1	HP:0000926	Platyspondyly	1/7	OMIM:615777
3479	IGF1	HP:0003180	Flat acetabular roof	-	OMIM:615777
3479	IGF1	HP:0004482	Relative macrocephaly	-	OMIM:615777
3479	IGF1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3479	IGF1	HP:0000855	Insulin resistance	HP:0040281	ORPHA:73272
3479	IGF1	HP:0000845	Elevated circulating growth hormone concentration	1/1	OMIM:608747
3479	IGF1	HP:0000823	Delayed puberty	-	OMIM:131300
3479	IGF1	HP:0000894	Short clavicles	-	OMIM:615777
3479	IGF1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3479	IGF1	HP:0003265	Neonatal hyperbilirubinemia	HP:0040282	ORPHA:73272
3479	IGF1	HP:0000957	Cafe-au-lait spot	HP:0040283	ORPHA:73272
3479	IGF1	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:73272
3479	IGF1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3479	IGF1	HP:0000939	Osteoporosis	HP:0040282	ORPHA:73272
3479	IGF1	HP:0000938	Osteopenia	1/1	OMIM:608747
3479	IGF1	HP:0000286	Epicanthus	1/7	OMIM:615777
3479	IGF1	HP:0000280	Coarse facial features	2/7	OMIM:615777
3479	IGF1	HP:0000294	Low anterior hairline	HP:0040283	ORPHA:73272
3479	IGF1	HP:0002827	Hip dislocation	3/7	OMIM:615777
3479	IGF1	HP:0030084	Clinodactyly	HP:0040282	ORPHA:73272
3479	IGF1	HP:0000252	Microcephaly	HP:0040281	ORPHA:73272
3479	IGF1	HP:0000252	Microcephaly	1/1	OMIM:608747
3479	IGF1	HP:0000252	Microcephaly	-	OMIM:615777
3479	IGF1	HP:0002857	Genu valgum	-	OMIM:131300
3479	IGF1	HP:0001533	Slender build	-	OMIM:131300
3479	IGF1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:73272
3479	IGF1	HP:0001518	Small for gestational age	HP:0040281	ORPHA:73272
3479	IGF1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:73272
3479	IGF1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3479	IGF1	HP:0001511	Intrauterine growth retardation	1/1	OMIM:608747
3479	IGF1	HP:0007807	Optic nerve compression	-	OMIM:131300
3479	IGF1	HP:0000399	Prelingual sensorineural hearing impairment	HP:0040281	ORPHA:73272
3479	IGF1	HP:0012368	Flat face	7/7	OMIM:615777
3479	IGF1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3479	IGF1	HP:0000365	Hearing impairment	10/67	OMIM:131300
3479	IGF1	HP:0000343	Long philtrum	1/7	OMIM:615777
3479	IGF1	HP:0011001	Increased bone mineral density	-	OMIM:131300
3479	IGF1	HP:0000347	Micrognathia	HP:0040282	ORPHA:73272
3479	IGF1	HP:0000347	Micrognathia	1/1	OMIM:608747
3479	IGF1	HP:0000311	Round face	2/7	OMIM:615777
3479	IGF1	HP:0002970	Genu varum	-	OMIM:615777
3479	IGF1	HP:0000303	Mandibular prognathia	-	OMIM:131300
3479	IGF1	HP:0007911	Congenital bilateral ptosis	HP:0040283	ORPHA:73272
3479	IGF1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:73272
3479	IGF1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:608747
3479	IGF1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3479	IGF1	HP:0011120	Concave nasal ridge	HP:0040283	ORPHA:73272
3479	IGF1	HP:0000470	Short neck	1/7	OMIM:615777
3479	IGF1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3479	IGF1	HP:0001763	Pes planus	1/7	OMIM:615777
3479	IGF1	HP:0001840	Metatarsus adductus	-	OMIM:615777
3479	IGF1	HP:0000520	Proptosis	2/4	OMIM:131300
3479	IGF1	HP:0000520	Proptosis	7/7	OMIM:615777
3479	IGF1	HP:0000508	Ptosis	HP:0040283	ORPHA:73272
3479	IGF1	HP:0000508	Ptosis	1/1	OMIM:608747
3479	IGF1	HP:0030353	Decreased serum insulin-like growth factor 1	1/1	OMIM:608747
3479	IGF1	HP:0000592	Blue sclerae	2/7	OMIM:615777
3479	IGF1	HP:0011220	Prominent forehead	HP:0040283	ORPHA:73272
3479	IGF1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3479	IGF1	HP:0012514	Lower limb pain	4/4	OMIM:131300
3479	IGF1	HP:0000545	Myopia	HP:0040283	ORPHA:73272
3480	IGF1R	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3480	IGF1R	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:270450
3480	IGF1R	HP:0001293	Cranial nerve compression	-	OMIM:131300
3480	IGF1R	HP:0001270	Motor delay	HP:0040282	ORPHA:73273
3480	IGF1R	HP:0001270	Motor delay	1/4	OMIM:270450
3480	IGF1R	HP:0001252	Hypotonia	2/7	OMIM:615777
3480	IGF1R	HP:0001249	Intellectual disability	HP:0040282	ORPHA:73273
3480	IGF1R	HP:0001249	Intellectual disability	-	OMIM:270450
3480	IGF1R	HP:0001249	Intellectual disability	5/7	OMIM:615777
3480	IGF1R	HP:0001263	Global developmental delay	-	OMIM:270450
3480	IGF1R	HP:0001263	Global developmental delay	-	OMIM:615777
3480	IGF1R	HP:0002553	Highly arched eyebrow	-	OMIM:270450
3480	IGF1R	HP:0002515	Waddling gait	54/102	OMIM:131300
3480	IGF1R	HP:0001382	Joint hypermobility	-	OMIM:615777
3480	IGF1R	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3480	IGF1R	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3480	IGF1R	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3480	IGF1R	HP:0001324	Muscle weakness	40/96	OMIM:131300
3480	IGF1R	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3480	IGF1R	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3480	IGF1R	HP:0000007	Autosomal recessive inheritance	-	OMIM:270450
3480	IGF1R	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3480	IGF1R	HP:0000006	Autosomal dominant inheritance	-	OMIM:270450
3480	IGF1R	HP:0002650	Scoliosis	12/14	OMIM:131300
3480	IGF1R	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3480	IGF1R	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3480	IGF1R	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3480	IGF1R	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3480	IGF1R	HP:0000160	Narrow mouth	-	OMIM:270450
3480	IGF1R	HP:0000175	Cleft palate	2/7	OMIM:615777
3480	IGF1R	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:73273
3480	IGF1R	HP:0002750	Delayed skeletal maturation	2/4	OMIM:270450
3480	IGF1R	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:270450
3480	IGF1R	HP:0003388	Easy fatigability	36/76	OMIM:131300
3480	IGF1R	HP:0009466	Radial deviation of finger	-	OMIM:270450
3480	IGF1R	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3480	IGF1R	HP:0003577	Congenital onset	14/14	OMIM:270450
3480	IGF1R	HP:0002209	Sparse scalp hair	-	OMIM:270450
3480	IGF1R	HP:0003510	Severe short stature	7/7	OMIM:615777
3480	IGF1R	HP:0003510	Severe short stature	2/4	OMIM:270450
3480	IGF1R	HP:0002315	Headache	-	OMIM:131300
3480	IGF1R	HP:0004976	Knee dislocation	6/7	OMIM:615777
3480	IGF1R	HP:0009803	Short phalanx of finger	-	OMIM:615777
3480	IGF1R	HP:0200055	Small hand	-	OMIM:270450
3480	IGF1R	HP:0009763	Limb pain	63/92	OMIM:131300
3480	IGF1R	HP:0003621	Juvenile onset	-	OMIM:131300
3480	IGF1R	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3480	IGF1R	HP:0004279	Short palm	HP:0040282	ORPHA:73273
3480	IGF1R	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3480	IGF1R	HP:6001056	Out-toeing	-	OMIM:131300
3480	IGF1R	HP:0000651	Diplopia	-	OMIM:131300
3480	IGF1R	HP:0001956	Truncal obesity	2/7	OMIM:615777
3480	IGF1R	HP:0001956	Truncal obesity	-	OMIM:270450
3480	IGF1R	HP:0001903	Anemia	HP:0040283	OMIM:131300
3480	IGF1R	HP:0010049	Short metacarpal	-	OMIM:615777
3480	IGF1R	HP:0000678	Dental crowding	-	OMIM:615777
3480	IGF1R	HP:0000670	Carious teeth	-	OMIM:131300
3480	IGF1R	HP:0011304	Broad thumb	2/7	OMIM:615777
3480	IGF1R	HP:0000668	Hypodontia	-	OMIM:615777
3480	IGF1R	HP:0001999	Abnormal facial shape	-	OMIM:270450
3480	IGF1R	HP:0000664	Synophrys	-	OMIM:615777
3480	IGF1R	HP:0000664	Synophrys	-	OMIM:270450
3480	IGF1R	HP:0004325	Decreased body weight	-	OMIM:270450
3480	IGF1R	HP:0004322	Short stature	HP:0040281	ORPHA:73273
3480	IGF1R	HP:0004322	Short stature	-	OMIM:270450
3480	IGF1R	HP:0004396	Poor appetite	-	OMIM:131300
3480	IGF1R	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3480	IGF1R	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3480	IGF1R	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3480	IGF1R	HP:0003026	Short long bone	7/7	OMIM:615777
3480	IGF1R	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3480	IGF1R	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:73273
3480	IGF1R	HP:0000767	Pectus excavatum	1/4	OMIM:270450
3480	IGF1R	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3480	IGF1R	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3480	IGF1R	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3480	IGF1R	HP:0000739	Anxiety	1/4	OMIM:270450
3480	IGF1R	HP:0000750	Delayed speech and language development	1/4	OMIM:270450
3480	IGF1R	HP:0000750	Delayed speech and language development	-	OMIM:615777
3480	IGF1R	HP:0000713	Agitation	1/4	OMIM:270450
3480	IGF1R	HP:0011461	Fetal onset	7/7	OMIM:615777
3480	IGF1R	HP:0009125	Lipodystrophy	-	OMIM:270450
3480	IGF1R	HP:0000774	Narrow chest	2/7	OMIM:615777
3480	IGF1R	HP:0000926	Platyspondyly	1/7	OMIM:615777
3480	IGF1R	HP:0003180	Flat acetabular roof	-	OMIM:615777
3480	IGF1R	HP:0004482	Relative macrocephaly	-	OMIM:615777
3480	IGF1R	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3480	IGF1R	HP:0000819	Diabetes mellitus	-	OMIM:270450
3480	IGF1R	HP:0000823	Delayed puberty	-	OMIM:131300
3480	IGF1R	HP:0000894	Short clavicles	-	OMIM:615777
3480	IGF1R	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3480	IGF1R	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3480	IGF1R	HP:0009381	Short finger	1/4	OMIM:270450
3480	IGF1R	HP:0000286	Epicanthus	1/7	OMIM:615777
3480	IGF1R	HP:0000280	Coarse facial features	2/7	OMIM:615777
3480	IGF1R	HP:0000278	Retrognathia	-	OMIM:270450
3480	IGF1R	HP:0002827	Hip dislocation	3/7	OMIM:615777
3480	IGF1R	HP:0030084	Clinodactyly	HP:0040282	ORPHA:73273
3480	IGF1R	HP:0030084	Clinodactyly	1/4	OMIM:270450
3480	IGF1R	HP:0000252	Microcephaly	HP:0040282	ORPHA:73273
3480	IGF1R	HP:0000252	Microcephaly	1/4	OMIM:270450
3480	IGF1R	HP:0000252	Microcephaly	-	OMIM:615777
3480	IGF1R	HP:0001547	Abnormal rib cage morphology	-	OMIM:270450
3480	IGF1R	HP:0000219	Thin upper lip vermilion	-	OMIM:270450
3480	IGF1R	HP:0000218	High palate	-	OMIM:270450
3480	IGF1R	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:73273
3480	IGF1R	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:73273
3480	IGF1R	HP:0002857	Genu valgum	-	OMIM:131300
3480	IGF1R	HP:0001533	Slender build	-	OMIM:131300
3480	IGF1R	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:73273
3480	IGF1R	HP:0001511	Intrauterine growth retardation	4/4	OMIM:270450
3480	IGF1R	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3480	IGF1R	HP:0001510	Growth delay	HP:0040281	ORPHA:73273
3480	IGF1R	HP:0001510	Growth delay	1/4	OMIM:270450
3480	IGF1R	HP:0007807	Optic nerve compression	-	OMIM:131300
3480	IGF1R	HP:0012368	Flat face	7/7	OMIM:615777
3480	IGF1R	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3480	IGF1R	HP:0000365	Hearing impairment	10/67	OMIM:131300
3480	IGF1R	HP:0000369	Low-set ears	-	OMIM:270450
3480	IGF1R	HP:0000343	Long philtrum	-	OMIM:270450
3480	IGF1R	HP:0000343	Long philtrum	1/7	OMIM:615777
3480	IGF1R	HP:0011001	Increased bone mineral density	-	OMIM:131300
3480	IGF1R	HP:0000347	Micrognathia	-	OMIM:270450
3480	IGF1R	HP:0000319	Smooth philtrum	HP:0040282	ORPHA:73273
3480	IGF1R	HP:0000319	Smooth philtrum	-	OMIM:270450
3480	IGF1R	HP:0000311	Round face	2/7	OMIM:615777
3480	IGF1R	HP:0000325	Triangular face	-	OMIM:270450
3480	IGF1R	HP:0001655	Patent foramen ovale	-	OMIM:270450
3480	IGF1R	HP:0001629	Ventricular septal defect	-	OMIM:270450
3480	IGF1R	HP:0001620	Abnormally high-pitched voice	-	OMIM:270450
3480	IGF1R	HP:0002970	Genu varum	-	OMIM:615777
3480	IGF1R	HP:0001631	Atrial septal defect	-	OMIM:270450
3480	IGF1R	HP:0000303	Mandibular prognathia	-	OMIM:131300
3480	IGF1R	HP:0006610	Wide intermamillary distance	HP:0040282	ORPHA:73273
3480	IGF1R	HP:0006610	Wide intermamillary distance	1/4	OMIM:270450
3480	IGF1R	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3480	IGF1R	HP:0000486	Strabismus	-	OMIM:270450
3480	IGF1R	HP:0000490	Deeply set eye	-	OMIM:270450
3480	IGF1R	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:73273
3480	IGF1R	HP:0000470	Short neck	1/7	OMIM:615777
3480	IGF1R	HP:0000465	Webbed neck	-	OMIM:270450
3480	IGF1R	HP:0001773	Short foot	-	OMIM:270450
3480	IGF1R	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3480	IGF1R	HP:0001763	Pes planus	1/7	OMIM:615777
3480	IGF1R	HP:0030269	Increased circulating insulin-like growth factor 1 concentration	-	OMIM:270450
3480	IGF1R	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:73273
3480	IGF1R	HP:0000431	Wide nasal bridge	1/4	OMIM:270450
3480	IGF1R	HP:0001840	Metatarsus adductus	-	OMIM:615777
3480	IGF1R	HP:0001852	Sandal gap	-	OMIM:270450
3480	IGF1R	HP:0000520	Proptosis	2/4	OMIM:131300
3480	IGF1R	HP:0000520	Proptosis	7/7	OMIM:615777
3480	IGF1R	HP:0000582	Upslanted palpebral fissure	-	OMIM:270450
3480	IGF1R	HP:0000592	Blue sclerae	2/7	OMIM:615777
3480	IGF1R	HP:0000558	Rieger anomaly	-	OMIM:270450
3480	IGF1R	HP:0000574	Thick eyebrow	1/4	OMIM:270450
3480	IGF1R	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3480	IGF1R	HP:0012514	Lower limb pain	4/4	OMIM:131300
3481	IGF2	HP:0001159	Syndactyly	-	OMIM:180860
3481	IGF2	HP:0001159	Syndactyly	-	OMIM:616489
3481	IGF2	HP:0001159	Syndactyly	HP:0040282	ORPHA:397590
3481	IGF2	HP:0002475	Myelomeningocele	HP:0040283	ORPHA:2128
3481	IGF2	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:2128
3481	IGF2	HP:0010957	Congenital posterior urethral valve	-	OMIM:180860
3481	IGF2	HP:0003745	Sporadic	-	OMIM:180860
3481	IGF2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3481	IGF2	HP:0001293	Cranial nerve compression	-	OMIM:131300
3481	IGF2	HP:0001270	Motor delay	HP:0040283	ORPHA:231140
3481	IGF2	HP:0001270	Motor delay	HP:0040283	ORPHA:231144
3481	IGF2	HP:0001270	Motor delay	-	OMIM:616489
3481	IGF2	HP:0001270	Motor delay	HP:0040282	ORPHA:397590
3481	IGF2	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:2128
3481	IGF2	HP:0001250	Seizure	HP:0040283	ORPHA:231140
3481	IGF2	HP:0001252	Hypotonia	1/4	OMIM:616489
3481	IGF2	HP:0001252	Hypotonia	2/7	OMIM:615777
3481	IGF2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:231140
3481	IGF2	HP:0001249	Intellectual disability	5/7	OMIM:615777
3481	IGF2	HP:0001263	Global developmental delay	1/4	OMIM:616489
3481	IGF2	HP:0001263	Global developmental delay	-	OMIM:180860
3481	IGF2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:397590
3481	IGF2	HP:0001263	Global developmental delay	-	OMIM:615777
3481	IGF2	HP:0002515	Waddling gait	54/102	OMIM:131300
3481	IGF2	HP:0000062	Ambiguous genitalia	1/4	OMIM:616489
3481	IGF2	HP:0000076	Vesicoureteral reflux	-	OMIM:130650
3481	IGF2	HP:0000069	Abnormality of the ureter	-	OMIM:180860
3481	IGF2	HP:0000045	Abnormal scrotum morphology	HP:0040282	ORPHA:397590
3481	IGF2	HP:0001382	Joint hypermobility	-	OMIM:615777
3481	IGF2	HP:0000048	Bifid scrotum	HP:0040283	ORPHA:397590
3481	IGF2	HP:0000047	Hypospadias	-	OMIM:180860
3481	IGF2	HP:0000047	Hypospadias	HP:0040282	ORPHA:397590
3481	IGF2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:397590
3481	IGF2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2128
3481	IGF2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3481	IGF2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2128
3481	IGF2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:397590
3481	IGF2	HP:0000028	Cryptorchidism	-	OMIM:130650
3481	IGF2	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:231140
3481	IGF2	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:231144
3481	IGF2	HP:0008897	Postnatal growth retardation	4/4	OMIM:616489
3481	IGF2	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:397590
3481	IGF2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3481	IGF2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:231140
3481	IGF2	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:397590
3481	IGF2	HP:0008846	Severe intrauterine growth retardation	HP:0040283	ORPHA:231144
3481	IGF2	HP:0001328	Specific learning disability	HP:0040283	ORPHA:231144
3481	IGF2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3481	IGF2	HP:0001324	Muscle weakness	40/96	OMIM:131300
3481	IGF2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3481	IGF2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3481	IGF2	HP:0002667	Nephroblastoma	HP:0040283	ORPHA:2128
3481	IGF2	HP:0002667	Nephroblastoma	-	OMIM:130650
3481	IGF2	HP:0002667	Nephroblastoma	-	OMIM:180860
3481	IGF2	HP:0002667	Nephroblastoma	-	OMIM:194070
3481	IGF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616489
3481	IGF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180860
3481	IGF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:130650
3481	IGF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3481	IGF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:194070
3481	IGF2	HP:0001305	Dandy-Walker malformation	HP:0040283	OMIM:130650
3481	IGF2	HP:0002650	Scoliosis	HP:0040281	ORPHA:2128
3481	IGF2	HP:0002650	Scoliosis	12/14	OMIM:131300
3481	IGF2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3481	IGF2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3481	IGF2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3481	IGF2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3481	IGF2	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:2128
3481	IGF2	HP:0000158	Macroglossia	-	OMIM:130650
3481	IGF2	HP:0000175	Cleft palate	HP:0040282	ORPHA:397590
3481	IGF2	HP:0000175	Cleft palate	2/7	OMIM:615777
3481	IGF2	HP:0001476	Delayed closure of the anterior fontanelle	HP:0040284	ORPHA:231140
3481	IGF2	HP:0000150	Gonadoblastoma	-	OMIM:130650
3481	IGF2	HP:0008947	Floppy infant	HP:0040283	ORPHA:231144
3481	IGF2	HP:0006277	Pancreatic hyperplasia	-	OMIM:130650
3481	IGF2	HP:0006266	Small placenta	HP:0040283	ORPHA:397590
3481	IGF2	HP:0000121	Nephrocalcinosis	-	OMIM:130650
3481	IGF2	HP:0001442	Typified by somatic mosaicism	-	OMIM:194070
3481	IGF2	HP:0000105	Enlarged kidney	-	OMIM:130650
3481	IGF2	HP:0001402	Hepatocellular carcinoma	-	OMIM:180860
3481	IGF2	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:231140
3481	IGF2	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:231144
3481	IGF2	HP:0002750	Delayed skeletal maturation	-	OMIM:616489
3481	IGF2	HP:0002750	Delayed skeletal maturation	-	OMIM:180860
3481	IGF2	HP:0002714	Downturned corners of mouth	-	OMIM:180860
3481	IGF2	HP:0002007	Frontal bossing	3/4	OMIM:616489
3481	IGF2	HP:0002007	Frontal bossing	-	OMIM:180860
3481	IGF2	HP:0002007	Frontal bossing	HP:0040283	ORPHA:397590
3481	IGF2	HP:0011800	Midface retrusion	HP:0040283	ORPHA:231144
3481	IGF2	HP:0011800	Midface retrusion	-	OMIM:130650
3481	IGF2	HP:0002099	Asthma	HP:0040283	ORPHA:397590
3481	IGF2	HP:0100560	Upper limb asymmetry	HP:0040282	ORPHA:231140
3481	IGF2	HP:0100555	Asymmetric growth	HP:0040281	ORPHA:231140
3481	IGF2	HP:0100555	Asymmetric growth	HP:0040283	ORPHA:397590
3481	IGF2	HP:0100559	Lower limb asymmetry	HP:0040282	ORPHA:231140
3481	IGF2	HP:0003388	Easy fatigability	36/76	OMIM:131300
3481	IGF2	HP:0010442	Polydactyly	HP:0040283	ORPHA:231140
3481	IGF2	HP:0010442	Polydactyly	HP:0040283	ORPHA:397590
3481	IGF2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3481	IGF2	HP:0008186	Adrenocortical cytomegaly	-	OMIM:130650
3481	IGF2	HP:0010481	Urethral valve	-	OMIM:180860
3481	IGF2	HP:0003577	Congenital onset	4/4	OMIM:616489
3481	IGF2	HP:0002240	Hepatomegaly	-	OMIM:130650
3481	IGF2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:397590
3481	IGF2	HP:0011968	Feeding difficulties	2/4	OMIM:616489
3481	IGF2	HP:0003510	Severe short stature	7/7	OMIM:615777
3481	IGF2	HP:0001052	Nevus flammeus	-	OMIM:130650
3481	IGF2	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:231140
3481	IGF2	HP:0002315	Headache	-	OMIM:131300
3481	IGF2	HP:0004976	Knee dislocation	6/7	OMIM:615777
3481	IGF2	HP:0008523	Posterior helix pit	-	OMIM:130650
3481	IGF2	HP:0100607	Dysmenorrhea	HP:0040283	ORPHA:397590
3481	IGF2	HP:0100617	Testicular seminoma	-	OMIM:180860
3481	IGF2	HP:0009803	Short phalanx of finger	-	OMIM:615777
3481	IGF2	HP:0200055	Small hand	1/4	OMIM:616489
3481	IGF2	HP:0032165	Placental mesenchymal dysplasia	-	OMIM:130650
3481	IGF2	HP:0009760	Antecubital pterygium	1/4	OMIM:616489
3481	IGF2	HP:0009763	Limb pain	63/92	OMIM:131300
3481	IGF2	HP:0003621	Juvenile onset	-	OMIM:131300
3481	IGF2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3481	IGF2	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:231140
3481	IGF2	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:231144
3481	IGF2	HP:0004209	Clinodactyly of the 5th finger	2/4	OMIM:616489
3481	IGF2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:180860
3481	IGF2	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:397590
3481	IGF2	HP:0004220	Short middle phalanx of the 5th finger	-	OMIM:180860
3481	IGF2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3481	IGF2	HP:0004227	Short distal phalanx of the 5th finger	-	OMIM:180860
3481	IGF2	HP:6001056	Out-toeing	-	OMIM:131300
3481	IGF2	HP:0000651	Diplopia	-	OMIM:131300
3481	IGF2	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:231140
3481	IGF2	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:397590
3481	IGF2	HP:0001956	Truncal obesity	2/7	OMIM:615777
3481	IGF2	HP:0001903	Anemia	HP:0040283	OMIM:131300
3481	IGF2	HP:0010049	Short metacarpal	-	OMIM:615777
3481	IGF2	HP:0000678	Dental crowding	HP:0040282	ORPHA:231140
3481	IGF2	HP:0000678	Dental crowding	-	OMIM:615777
3481	IGF2	HP:0000670	Carious teeth	-	OMIM:131300
3481	IGF2	HP:0011304	Broad thumb	2/7	OMIM:615777
3481	IGF2	HP:0000668	Hypodontia	-	OMIM:615777
3481	IGF2	HP:0001998	Neonatal hypoglycemia	-	OMIM:130650
3481	IGF2	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:231140
3481	IGF2	HP:0000664	Synophrys	-	OMIM:615777
3481	IGF2	HP:0004325	Decreased body weight	HP:0040282	ORPHA:231140
3481	IGF2	HP:0004325	Decreased body weight	4/4	OMIM:616489
3481	IGF2	HP:0004322	Short stature	HP:0040281	ORPHA:231140
3481	IGF2	HP:0004322	Short stature	HP:0040282	ORPHA:231144
3481	IGF2	HP:0004322	Short stature	4/4	OMIM:616489
3481	IGF2	HP:0005616	Accelerated skeletal maturation	-	OMIM:130650
3481	IGF2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2128
3481	IGF2	HP:0000808	Penoscrotal hypospadias	1/4	OMIM:616489
3481	IGF2	HP:0000803	Renal cortical cysts	-	OMIM:130650
3481	IGF2	HP:0004396	Poor appetite	-	OMIM:131300
3481	IGF2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3481	IGF2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3481	IGF2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3481	IGF2	HP:0003026	Short long bone	7/7	OMIM:615777
3481	IGF2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3481	IGF2	HP:0012741	Unilateral cryptorchidism	1/4	OMIM:616489
3481	IGF2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3481	IGF2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3481	IGF2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3481	IGF2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:397590
3481	IGF2	HP:0000750	Delayed speech and language development	-	OMIM:615777
3481	IGF2	HP:0011461	Fetal onset	7/7	OMIM:615777
3481	IGF2	HP:0000774	Narrow chest	2/7	OMIM:615777
3481	IGF2	HP:0000787	Nephrolithiasis	-	OMIM:130650
3481	IGF2	HP:0000926	Platyspondyly	1/7	OMIM:615777
3481	IGF2	HP:0003180	Flat acetabular roof	-	OMIM:615777
3481	IGF2	HP:0004482	Relative macrocephaly	4/4	OMIM:616489
3481	IGF2	HP:0004482	Relative macrocephaly	HP:0040282	ORPHA:231140
3481	IGF2	HP:0004482	Relative macrocephaly	HP:0040283	ORPHA:231144
3481	IGF2	HP:0004482	Relative macrocephaly	HP:0040281	ORPHA:397590
3481	IGF2	HP:0004482	Relative macrocephaly	-	OMIM:615777
3481	IGF2	HP:0003162	Fasting hypoglycemia	-	OMIM:180860
3481	IGF2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3481	IGF2	HP:0000811	Abnormal external genitalia morphology	HP:0040283	ORPHA:231140
3481	IGF2	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:397590
3481	IGF2	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:180860
3481	IGF2	HP:0000823	Delayed puberty	-	OMIM:131300
3481	IGF2	HP:0000894	Short clavicles	-	OMIM:615777
3481	IGF2	HP:0009237	Short 5th finger	HP:0040282	ORPHA:397590
3481	IGF2	HP:0003247	Overgrowth of external genitalia	-	OMIM:130650
3481	IGF2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3481	IGF2	HP:0034391	Elbow contracture	1/4	OMIM:616489
3481	IGF2	HP:0000995	Melanocytic nevus	-	OMIM:616489
3481	IGF2	HP:0100257	Ectrodactyly	HP:0040283	ORPHA:397590
3481	IGF2	HP:0000975	Hyperhidrosis	HP:0040284	ORPHA:231140
3481	IGF2	HP:0000957	Cafe-au-lait spot	-	OMIM:180860
3481	IGF2	HP:0000957	Cafe-au-lait spot	HP:0040283	ORPHA:397590
3481	IGF2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3481	IGF2	HP:0000286	Epicanthus	1/7	OMIM:615777
3481	IGF2	HP:0000280	Coarse facial features	-	OMIM:130650
3481	IGF2	HP:0000280	Coarse facial features	2/7	OMIM:615777
3481	IGF2	HP:0000278	Retrognathia	3/4	OMIM:616489
3481	IGF2	HP:0000270	Delayed cranial suture closure	-	OMIM:180860
3481	IGF2	HP:0000269	Prominent occiput	-	OMIM:130650
3481	IGF2	HP:0030062	Craniopharyngioma	-	OMIM:180860
3481	IGF2	HP:0002827	Hip dislocation	3/7	OMIM:615777
3481	IGF2	HP:0000239	Large fontanelles	-	OMIM:130650
3481	IGF2	HP:0000252	Microcephaly	-	OMIM:615777
3481	IGF2	HP:0002884	Hepatoblastoma	-	OMIM:130650
3481	IGF2	HP:0001548	Overgrowth	-	OMIM:130650
3481	IGF2	HP:0000218	High palate	HP:0040282	ORPHA:231140
3481	IGF2	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:231144
3481	IGF2	HP:0001562	Oligohydramnios	1/4	OMIM:616489
3481	IGF2	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:397590
3481	IGF2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:231144
3481	IGF2	HP:0001555	Asymmetry of the thorax	HP:0040281	ORPHA:2128
3481	IGF2	HP:0001528	Hemihypertrophy	-	OMIM:130650
3481	IGF2	HP:0001528	Hemihypertrophy	HP:0040281	ORPHA:2128
3481	IGF2	HP:0002857	Genu valgum	-	OMIM:131300
3481	IGF2	HP:0001540	Diastasis recti	-	OMIM:130650
3481	IGF2	HP:0001540	Diastasis recti	HP:0040283	ORPHA:231140
3481	IGF2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:231144
3481	IGF2	HP:0001539	Omphalocele	-	OMIM:130650
3481	IGF2	HP:0001533	Slender build	-	OMIM:131300
3481	IGF2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:231144
3481	IGF2	HP:0001518	Small for gestational age	HP:0040281	ORPHA:231140
3481	IGF2	HP:0001518	Small for gestational age	HP:0040282	ORPHA:231144
3481	IGF2	HP:0001518	Small for gestational age	4/4	OMIM:616489
3481	IGF2	HP:0001518	Small for gestational age	HP:0040281	ORPHA:397590
3481	IGF2	HP:0001518	Small for gestational age	-	OMIM:180860
3481	IGF2	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:231144
3481	IGF2	HP:0001511	Intrauterine growth retardation	-	OMIM:180860
3481	IGF2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:397590
3481	IGF2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3481	IGF2	HP:0007807	Optic nerve compression	-	OMIM:131300
3481	IGF2	HP:0012368	Flat face	7/7	OMIM:615777
3481	IGF2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3481	IGF2	HP:0000365	Hearing impairment	10/67	OMIM:131300
3481	IGF2	HP:0000369	Low-set ears	2/4	OMIM:616489
3481	IGF2	HP:0000369	Low-set ears	HP:0040282	ORPHA:397590
3481	IGF2	HP:0000343	Long philtrum	1/7	OMIM:615777
3481	IGF2	HP:0011001	Increased bone mineral density	-	OMIM:131300
3481	IGF2	HP:0000347	Micrognathia	-	OMIM:180860
3481	IGF2	HP:0000347	Micrognathia	HP:0040281	ORPHA:397590
3481	IGF2	HP:0001643	Patent ductus arteriosus	HP:0040283	OMIM:616489
3481	IGF2	HP:0000311	Round face	2/7	OMIM:615777
3481	IGF2	HP:0000331	Short chin	HP:0040281	ORPHA:231140
3481	IGF2	HP:0000325	Triangular face	HP:0040281	ORPHA:231140
3481	IGF2	HP:0000325	Triangular face	HP:0040282	ORPHA:231144
3481	IGF2	HP:0000325	Triangular face	3/4	OMIM:616489
3481	IGF2	HP:0000325	Triangular face	HP:0040281	ORPHA:397590
3481	IGF2	HP:0000325	Triangular face	-	OMIM:180860
3481	IGF2	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:231144
3481	IGF2	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:2128
3481	IGF2	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:397590
3481	IGF2	HP:0001626	Abnormality of the cardiovascular system	-	OMIM:180860
3481	IGF2	HP:0001640	Cardiomegaly	-	OMIM:130650
3481	IGF2	HP:0002970	Genu varum	-	OMIM:615777
3481	IGF2	HP:0001638	Cardiomyopathy	-	OMIM:130650
3481	IGF2	HP:0000303	Mandibular prognathia	-	OMIM:131300
3481	IGF2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3481	IGF2	HP:0000470	Short neck	1/7	OMIM:615777
3481	IGF2	HP:0030260	Microphallus	HP:0040283	ORPHA:397590
3481	IGF2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3481	IGF2	HP:0001763	Pes planus	1/7	OMIM:615777
3481	IGF2	HP:0000411	Protruding ear	HP:0040282	ORPHA:231140
3481	IGF2	HP:0006744	Adrenocortical carcinoma	-	OMIM:130650
3481	IGF2	HP:0005487	Prominent metopic ridge	-	OMIM:130650
3481	IGF2	HP:0005461	Craniofacial disproportion	-	OMIM:180860
3481	IGF2	HP:0001840	Metatarsus adductus	-	OMIM:615777
3481	IGF2	HP:0000520	Proptosis	2/4	OMIM:131300
3481	IGF2	HP:0000520	Proptosis	-	OMIM:130650
3481	IGF2	HP:0000520	Proptosis	7/7	OMIM:615777
3481	IGF2	HP:0001804	Hypoplastic fingernail	HP:0040283	ORPHA:397590
3481	IGF2	HP:0000592	Blue sclerae	2/7	OMIM:615777
3481	IGF2	HP:0000592	Blue sclerae	-	OMIM:180860
3481	IGF2	HP:0011220	Prominent forehead	HP:0040282	ORPHA:231140
3481	IGF2	HP:0011220	Prominent forehead	HP:0040283	ORPHA:231144
3481	IGF2	HP:0011220	Prominent forehead	-	OMIM:616489
3481	IGF2	HP:0011220	Prominent forehead	HP:0040281	ORPHA:397590
3481	IGF2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3481	IGF2	HP:0012514	Lower limb pain	4/4	OMIM:131300
3482	IGF2R	HP:0001442	Typified by somatic mosaicism	-	OMIM:114550
3482	IGF2R	HP:0001402	Hepatocellular carcinoma	-	OMIM:114550
3482	IGF2R	HP:0001413	Micronodular cirrhosis	-	OMIM:114550
3482	IGF2R	HP:0006572	Subacute progressive viral hepatitis	-	OMIM:114550
3483	IGFALS	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3483	IGFALS	HP:0001293	Cranial nerve compression	-	OMIM:131300
3483	IGFALS	HP:0001252	Hypotonia	2/7	OMIM:615777
3483	IGFALS	HP:0001249	Intellectual disability	5/7	OMIM:615777
3483	IGFALS	HP:0001263	Global developmental delay	-	OMIM:615777
3483	IGFALS	HP:0002515	Waddling gait	54/102	OMIM:131300
3483	IGFALS	HP:0001382	Joint hypermobility	-	OMIM:615777
3483	IGFALS	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3483	IGFALS	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3483	IGFALS	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3483	IGFALS	HP:0001324	Muscle weakness	40/96	OMIM:131300
3483	IGFALS	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3483	IGFALS	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3483	IGFALS	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3483	IGFALS	HP:0002650	Scoliosis	12/14	OMIM:131300
3483	IGFALS	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3483	IGFALS	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3483	IGFALS	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3483	IGFALS	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3483	IGFALS	HP:0000175	Cleft palate	2/7	OMIM:615777
3483	IGFALS	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:140941
3483	IGFALS	HP:0003388	Easy fatigability	36/76	OMIM:131300
3483	IGFALS	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3483	IGFALS	HP:0008189	Insulin insensitivity	-	OMIM:615961
3483	IGFALS	HP:0003510	Severe short stature	7/7	OMIM:615777
3483	IGFALS	HP:0002315	Headache	-	OMIM:131300
3483	IGFALS	HP:0004976	Knee dislocation	6/7	OMIM:615777
3483	IGFALS	HP:0009803	Short phalanx of finger	-	OMIM:615777
3483	IGFALS	HP:0009763	Limb pain	63/92	OMIM:131300
3483	IGFALS	HP:0003621	Juvenile onset	-	OMIM:131300
3483	IGFALS	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3483	IGFALS	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3483	IGFALS	HP:6001056	Out-toeing	-	OMIM:131300
3483	IGFALS	HP:0000651	Diplopia	-	OMIM:131300
3483	IGFALS	HP:0001956	Truncal obesity	HP:0040282	ORPHA:140941
3483	IGFALS	HP:0001956	Truncal obesity	2/7	OMIM:615777
3483	IGFALS	HP:0001903	Anemia	HP:0040283	OMIM:131300
3483	IGFALS	HP:0010049	Short metacarpal	-	OMIM:615777
3483	IGFALS	HP:0000678	Dental crowding	-	OMIM:615777
3483	IGFALS	HP:0000670	Carious teeth	-	OMIM:131300
3483	IGFALS	HP:0011304	Broad thumb	2/7	OMIM:615777
3483	IGFALS	HP:0000668	Hypodontia	-	OMIM:615777
3483	IGFALS	HP:0000664	Synophrys	-	OMIM:615777
3483	IGFALS	HP:0004396	Poor appetite	-	OMIM:131300
3483	IGFALS	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3483	IGFALS	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3483	IGFALS	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3483	IGFALS	HP:0003026	Short long bone	7/7	OMIM:615777
3483	IGFALS	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3483	IGFALS	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3483	IGFALS	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3483	IGFALS	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3483	IGFALS	HP:0000750	Delayed speech and language development	-	OMIM:615777
3483	IGFALS	HP:0011461	Fetal onset	7/7	OMIM:615777
3483	IGFALS	HP:0000774	Narrow chest	2/7	OMIM:615777
3483	IGFALS	HP:0000926	Platyspondyly	1/7	OMIM:615777
3483	IGFALS	HP:0003180	Flat acetabular roof	-	OMIM:615777
3483	IGFALS	HP:0004482	Relative macrocephaly	-	OMIM:615777
3483	IGFALS	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3483	IGFALS	HP:0000855	Insulin resistance	HP:0040282	ORPHA:140941
3483	IGFALS	HP:0000823	Delayed puberty	-	OMIM:131300
3483	IGFALS	HP:0000823	Delayed puberty	HP:0040281	ORPHA:140941
3483	IGFALS	HP:0000823	Delayed puberty	-	OMIM:615961
3483	IGFALS	HP:0000894	Short clavicles	-	OMIM:615777
3483	IGFALS	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3483	IGFALS	HP:0045046	Reduced insulin like growth factor binding protein acid labile subunit concentration	1/1	OMIM:615961
3483	IGFALS	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3483	IGFALS	HP:0000286	Epicanthus	1/7	OMIM:615777
3483	IGFALS	HP:0000280	Coarse facial features	2/7	OMIM:615777
3483	IGFALS	HP:0002827	Hip dislocation	3/7	OMIM:615777
3483	IGFALS	HP:0000252	Microcephaly	-	OMIM:615777
3483	IGFALS	HP:0001530	Mild postnatal growth retardation	-	OMIM:615961
3483	IGFALS	HP:0002857	Genu valgum	-	OMIM:131300
3483	IGFALS	HP:0001533	Slender build	-	OMIM:131300
3483	IGFALS	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3483	IGFALS	HP:0001510	Growth delay	HP:0040281	ORPHA:140941
3483	IGFALS	HP:0007807	Optic nerve compression	-	OMIM:131300
3483	IGFALS	HP:0012368	Flat face	7/7	OMIM:615777
3483	IGFALS	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3483	IGFALS	HP:0000365	Hearing impairment	10/67	OMIM:131300
3483	IGFALS	HP:0000343	Long philtrum	1/7	OMIM:615777
3483	IGFALS	HP:0011001	Increased bone mineral density	-	OMIM:131300
3483	IGFALS	HP:0000347	Micrognathia	HP:0040282	ORPHA:140941
3483	IGFALS	HP:0000311	Round face	2/7	OMIM:615777
3483	IGFALS	HP:0002970	Genu varum	-	OMIM:615777
3483	IGFALS	HP:0000303	Mandibular prognathia	-	OMIM:131300
3483	IGFALS	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3483	IGFALS	HP:0000470	Short neck	1/7	OMIM:615777
3483	IGFALS	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3483	IGFALS	HP:0001763	Pes planus	1/7	OMIM:615777
3483	IGFALS	HP:0001840	Metatarsus adductus	-	OMIM:615777
3483	IGFALS	HP:0000520	Proptosis	2/4	OMIM:131300
3483	IGFALS	HP:0000520	Proptosis	7/7	OMIM:615777
3483	IGFALS	HP:0030353	Decreased serum insulin-like growth factor 1	HP:0040281	ORPHA:140941
3483	IGFALS	HP:0030353	Decreased serum insulin-like growth factor 1	-	OMIM:615961
3483	IGFALS	HP:0000592	Blue sclerae	2/7	OMIM:615777
3483	IGFALS	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3483	IGFALS	HP:0012514	Lower limb pain	4/4	OMIM:131300
3490	IGFBP7	HP:0025355	Retinal arterial macroaneurysms	22/22	OMIM:614224
3490	IGFBP7	HP:0000007	Autosomal recessive inheritance	-	OMIM:614224
3490	IGFBP7	HP:0012231	Exudative retinal detachment	-	OMIM:614224
3490	IGFBP7	HP:0001642	Pulmonic stenosis	13/13	OMIM:614224
3492	IGH	HP:0001287	Meningitis	HP:0040283	ORPHA:545
3492	IGH	HP:0002585	Abnormal peritoneum morphology	HP:0040283	ORPHA:545
3492	IGH	HP:0033823	Mediastinal mass	HP:0040284	ORPHA:545
3492	IGH	HP:0002665	Lymphoma	HP:0040281	ORPHA:545
3492	IGH	HP:0012191	B-cell lymphoma	HP:0040281	ORPHA:52416
3492	IGH	HP:0012191	B-cell lymphoma	HP:0040281	ORPHA:52417
3492	IGH	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:545
3492	IGH	HP:0012123	Posterior uveitis	HP:0040283	ORPHA:52417
3492	IGH	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:52416
3492	IGH	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:52417
3492	IGH	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:545
3492	IGH	HP:0002019	Constipation	HP:0040282	ORPHA:52417
3492	IGH	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:52417
3492	IGH	HP:0002027	Abdominal pain	HP:0040283	ORPHA:52417
3492	IGH	HP:0002039	Anorexia	HP:0040282	ORPHA:52416
3492	IGH	HP:0002113	Pulmonary infiltrates	HP:0040281	ORPHA:52417
3492	IGH	HP:0002202	Pleural effusion	HP:0040283	ORPHA:545
3492	IGH	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:52417
3492	IGH	HP:0100721	Mediastinal lymphadenopathy	HP:0040283	ORPHA:52417
3492	IGH	HP:0100721	Mediastinal lymphadenopathy	HP:0040281	ORPHA:545
3492	IGH	HP:0001004	Lymphedema	HP:0040283	ORPHA:545
3492	IGH	HP:0200036	Skin nodule	HP:0040283	ORPHA:545
3492	IGH	HP:0005561	Abnormal bone marrow cell morphology	HP:0040282	ORPHA:52416
3492	IGH	HP:0000614	Abnormal nasolacrimal system morphology	HP:0040283	ORPHA:52417
3492	IGH	HP:0001945	Fever	HP:0040281	ORPHA:545
3492	IGH	HP:0001945	Fever	HP:0040282	ORPHA:52416
3492	IGH	HP:0001945	Fever	HP:0040281	ORPHA:52417
3492	IGH	HP:0001903	Anemia	HP:0040281	ORPHA:52417
3492	IGH	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:545
3492	IGH	HP:0000820	Abnormality of the thyroid gland	HP:0040283	ORPHA:52417
3492	IGH	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:52417
3492	IGH	HP:0001541	Ascites	HP:0040283	ORPHA:545
3492	IGH	HP:0012378	Fatigue	HP:0040282	ORPHA:52416
3492	IGH	HP:0012378	Fatigue	HP:0040281	ORPHA:52417
3492	IGH	HP:0012378	Fatigue	HP:0040282	ORPHA:545
3492	IGH	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:52416
3492	IGH	HP:0030166	Night sweats	HP:0040282	ORPHA:545
3492	IGH	HP:0001744	Splenomegaly	HP:0040282	ORPHA:545
3492	IGH	HP:0001744	Splenomegaly	HP:0040282	ORPHA:52416
3492	IGH	HP:0001824	Weight loss	HP:0040282	ORPHA:52416
3492	IGH	HP:0001824	Weight loss	HP:0040281	ORPHA:52417
3492	IGH	HP:0001824	Weight loss	HP:0040281	ORPHA:545
3492	IGH	HP:0000505	Visual impairment	HP:0040283	ORPHA:52417
3500	IGHG1	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
3500	IGHG1	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
3500	IGHG1	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
3500	IGHG1	HP:0001250	Seizure	HP:0040283	ORPHA:536
3500	IGHG1	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
3500	IGHG1	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
3500	IGHG1	HP:0001369	Arthritis	HP:0040282	ORPHA:536
3500	IGHG1	HP:0033834	Malaise	HP:0040281	ORPHA:536
3500	IGHG1	HP:0012085	Pyuria	HP:0040282	ORPHA:536
3500	IGHG1	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
3500	IGHG1	HP:0025300	Malar rash	HP:0040282	ORPHA:536
3500	IGHG1	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
3500	IGHG1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
3500	IGHG1	HP:0002072	Chorea	HP:0040284	ORPHA:536
3500	IGHG1	HP:0002039	Anorexia	HP:0040281	ORPHA:536
3500	IGHG1	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
3500	IGHG1	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
3500	IGHG1	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
3500	IGHG1	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
3500	IGHG1	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
3500	IGHG1	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
3500	IGHG1	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
3500	IGHG1	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
3500	IGHG1	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
3500	IGHG1	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
3500	IGHG1	HP:0001945	Fever	HP:0040281	ORPHA:536
3500	IGHG1	HP:0000716	Depression	HP:0040283	ORPHA:536
3500	IGHG1	HP:0000790	Hematuria	HP:0040282	ORPHA:536
3500	IGHG1	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
3500	IGHG1	HP:0000822	Hypertension	HP:0040282	ORPHA:536
3500	IGHG1	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
3500	IGHG1	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
3500	IGHG1	HP:0045073	Serositis	HP:0040283	ORPHA:536
3500	IGHG1	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
3500	IGHG1	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
3500	IGHG1	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
3500	IGHG1	HP:0001596	Alopecia	HP:0040282	ORPHA:536
3500	IGHG1	HP:0012378	Fatigue	HP:0040281	ORPHA:536
3500	IGHG1	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
3500	IGHG1	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
3500	IGHG1	HP:0001824	Weight loss	HP:0040281	ORPHA:536
3500	IGHG1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
3500	IGHG1	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
3500	IGHG1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
3501	IGHG2	HP:0003765	Psoriasiform dermatitis	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0032262	Pulmonary tuberculosis	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0032275	Recurrent shingles	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0100806	Sepsis	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0001370	Rheumatoid arthritis	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0001369	Arthritis	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0000031	Epididymitis	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0002665	Lymphoma	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0002608	Celiac disease	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0500093	Food allergy	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0002783	Recurrent lower respiratory tract infections	HP:0040282	ORPHA:183675
3501	IGHG2	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:183675
3501	IGHG2	HP:0002719	Recurrent infections	HP:0040282	ORPHA:183675
3501	IGHG2	HP:0002718	Recurrent bacterial infections	HP:0040282	ORPHA:183675
3501	IGHG2	HP:0002725	Systemic lupus erythematosus	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0002720	Decreased circulating IgA concentration	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0030998	Cerebrospinal fluid rhinorrhoea	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0003326	Myalgia	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0100523	Liver abscess	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0002099	Asthma	HP:0040282	ORPHA:183675
3501	IGHG2	HP:0002090	Pneumonia	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:183675
3501	IGHG2	HP:0020096	Recurrent streptococcal infections	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0001047	Atopic dermatitis	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0001082	Cholecystitis	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0032169	Severe infection	HP:0040282	ORPHA:183675
3501	IGHG2	HP:0004315	Decreased circulating IgG concentration	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0003193	Allergic rhinitis	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0100324	Scleroderma	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0000819	Diabetes mellitus	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0000988	Skin rash	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0002829	Arthralgia	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0002850	Decreased circulating total IgM	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0012378	Fatigue	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0012387	Bronchitis	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0005231	Chronic gastritis	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0006562	Viral hepatitis	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0030151	Cholangitis	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0002960	Autoimmunity	HP:0040282	ORPHA:183675
3501	IGHG2	HP:0005353	Recurrent herpes	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0012476	Decreased specific pneumococcal antibody level	HP:0040284	ORPHA:183675
3501	IGHG2	HP:0011109	Chronic sinusitis	HP:0040283	ORPHA:183675
3501	IGHG2	HP:0011110	Recurrent tonsillitis	HP:0040283	ORPHA:183675
3507	IGHM	HP:0100806	Sepsis	HP:0040283	ORPHA:33110
3507	IGHM	HP:0001287	Meningitis	HP:0040283	ORPHA:33110
3507	IGHM	HP:0010976	Decreased total B cell count	7/7	OMIM:601495
3507	IGHM	HP:0001369	Arthritis	HP:0040282	ORPHA:33110
3507	IGHM	HP:0000007	Autosomal recessive inheritance	-	OMIM:601495
3507	IGHM	HP:0012115	Hepatitis	HP:0040283	ORPHA:33110
3507	IGHM	HP:0002754	Osteomyelitis	HP:0040282	ORPHA:33110
3507	IGHM	HP:0002743	Recurrent enteroviral infections	9/26	OMIM:601495
3507	IGHM	HP:0002719	Recurrent infections	HP:0040281	ORPHA:33110
3507	IGHM	HP:0002718	Recurrent bacterial infections	-	OMIM:601495
3507	IGHM	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:33110
3507	IGHM	HP:0002024	Malabsorption	HP:0040283	ORPHA:33110
3507	IGHM	HP:0002028	Chronic diarrhea	4/19	OMIM:601495
3507	IGHM	HP:0002014	Diarrhea	HP:0040281	ORPHA:33110
3507	IGHM	HP:0002110	Bronchiectasis	3/19	OMIM:601495
3507	IGHM	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:33110
3507	IGHM	HP:0003593	Infantile onset	12/19	OMIM:601495
3507	IGHM	HP:0002205	Recurrent respiratory infections	-	OMIM:601495
3507	IGHM	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:33110
3507	IGHM	HP:0100658	Cellulitis	HP:0040283	ORPHA:33110
3507	IGHM	HP:0200043	Verrucae	HP:0040283	ORPHA:33110
3507	IGHM	HP:0001944	Dehydration	HP:0040283	ORPHA:33110
3507	IGHM	HP:0001945	Fever	HP:0040281	ORPHA:33110
3507	IGHM	HP:0004313	Decreased circulating immunoglobulin concentration	7/7	OMIM:601495
3507	IGHM	HP:0012735	Cough	HP:0040281	ORPHA:33110
3507	IGHM	HP:0011463	Childhood onset	7/19	OMIM:601495
3507	IGHM	HP:0004432	Agammaglobulinemia	1/7	OMIM:601495
3507	IGHM	HP:0004432	Agammaglobulinemia	HP:0040281	ORPHA:33110
3507	IGHM	HP:0003139	Panhypogammaglobulinemia	7/7	OMIM:601495
3507	IGHM	HP:0000988	Skin rash	HP:0040281	ORPHA:33110
3507	IGHM	HP:0000286	Epicanthus	HP:0040283	ORPHA:33110
3507	IGHM	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:33110
3507	IGHM	HP:0000246	Sinusitis	HP:0040281	ORPHA:33110
3507	IGHM	HP:0000218	High palate	HP:0040283	ORPHA:33110
3507	IGHM	HP:0001508	Failure to thrive	4/19	OMIM:601495
3507	IGHM	HP:0001508	Failure to thrive	HP:0040282	ORPHA:33110
3507	IGHM	HP:0012378	Fatigue	HP:0040281	ORPHA:33110
3507	IGHM	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:33110
3507	IGHM	HP:0000389	Chronic otitis media	HP:0040281	ORPHA:33110
3507	IGHM	HP:0005224	Rectal abscess	1/7	OMIM:601495
3507	IGHM	HP:0006532	Recurrent pneumonia	10/19	OMIM:601495
3507	IGHM	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33110
3507	IGHM	HP:0000403	Recurrent otitis media	2/7	OMIM:601495
3507	IGHM	HP:0011108	Recurrent sinusitis	3/19	OMIM:601495
3507	IGHM	HP:0000509	Conjunctivitis	3/19	OMIM:601495
3507	IGHM	HP:0000509	Conjunctivitis	HP:0040281	ORPHA:33110
3507	IGHM	HP:0001875	Decreased total neutrophil count	6/19	OMIM:601495
3507	IGHM	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33110
3508	IGHMBP2	HP:0002460	Distal muscle weakness	-	OMIM:604320
3508	IGHMBP2	HP:0007269	Spinal muscular atrophy	-	OMIM:604320
3508	IGHMBP2	HP:0003701	Proximal muscle weakness	HP:0040283	OMIM:616155
3508	IGHMBP2	HP:0001288	Gait disturbance	-	OMIM:616155
3508	IGHMBP2	HP:0001265	Hyporeflexia	-	OMIM:604320
3508	IGHMBP2	HP:0001265	Hyporeflexia	-	OMIM:616155
3508	IGHMBP2	HP:0007340	Lower limb muscle weakness	15/15	OMIM:616155
3508	IGHMBP2	HP:0002522	Areflexia of lower limbs	12/14	OMIM:616155
3508	IGHMBP2	HP:0012046	Areflexia of upper limbs	10/14	OMIM:616155
3508	IGHMBP2	HP:0000020	Urinary incontinence	-	OMIM:604320
3508	IGHMBP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:604320
3508	IGHMBP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616155
3508	IGHMBP2	HP:0002650	Scoliosis	HP:0040283	OMIM:616155
3508	IGHMBP2	HP:0001319	Neonatal hypotonia	11/11	OMIM:604320
3508	IGHMBP2	HP:0002789	Tachypnea	-	OMIM:604320
3508	IGHMBP2	HP:0002019	Constipation	-	OMIM:604320
3508	IGHMBP2	HP:0005946	Ventilator dependence with inability to wean	-	OMIM:604320
3508	IGHMBP2	HP:0003376	Steppage gait	-	OMIM:616155
3508	IGHMBP2	HP:0003484	Upper limb muscle weakness	15/15	OMIM:616155
3508	IGHMBP2	HP:0003445	EMG: neuropathic changes	-	OMIM:604320
3508	IGHMBP2	HP:0100490	Camptodactyly of finger	-	OMIM:604320
3508	IGHMBP2	HP:0003577	Congenital onset	11/11	OMIM:604320
3508	IGHMBP2	HP:0002398	Degeneration of anterior horn cells	-	OMIM:604320
3508	IGHMBP2	HP:0003693	Distal amyotrophy	-	OMIM:604320
3508	IGHMBP2	HP:0003690	Limb muscle weakness	-	OMIM:604320
3508	IGHMBP2	HP:0003677	Slowly progressive	-	OMIM:616155
3508	IGHMBP2	HP:0007141	Sensorimotor neuropathy	-	OMIM:616155
3508	IGHMBP2	HP:0003621	Juvenile onset	7/15	OMIM:616155
3508	IGHMBP2	HP:0009027	Foot dorsiflexor weakness	-	OMIM:616155
3508	IGHMBP2	HP:0009109	Denervation of the diaphragm	-	OMIM:604320
3508	IGHMBP2	HP:0000762	Decreased nerve conduction velocity	-	OMIM:604320
3508	IGHMBP2	HP:0000764	Peripheral axonal degeneration	-	OMIM:604320
3508	IGHMBP2	HP:0011463	Childhood onset	8/15	OMIM:616155
3508	IGHMBP2	HP:0009110	Diaphragmatic eventration	11/11	OMIM:604320
3508	IGHMBP2	HP:0009113	Diaphragmatic weakness	-	OMIM:604320
3508	IGHMBP2	HP:0040078	Axonal degeneration	-	OMIM:616155
3508	IGHMBP2	HP:0040078	Axonal degeneration	-	OMIM:604320
3508	IGHMBP2	HP:0000975	Hyperhidrosis	-	OMIM:604320
3508	IGHMBP2	HP:0002878	Respiratory failure	-	OMIM:604320
3508	IGHMBP2	HP:0001558	Decreased fetal movement	-	OMIM:604320
3508	IGHMBP2	HP:0001508	Failure to thrive	-	OMIM:604320
3508	IGHMBP2	HP:0001518	Small for gestational age	-	OMIM:604320
3508	IGHMBP2	HP:0001511	Intrauterine growth retardation	-	OMIM:604320
3508	IGHMBP2	HP:0006597	Diaphragmatic paralysis	-	OMIM:604320
3508	IGHMBP2	HP:0002936	Distal sensory impairment	4/11	OMIM:616155
3508	IGHMBP2	HP:0001612	Weak cry	-	OMIM:604320
3508	IGHMBP2	HP:0001622	Premature birth	-	OMIM:604320
3508	IGHMBP2	HP:0005348	Inspiratory stridor	-	OMIM:604320
3508	IGHMBP2	HP:0012473	Tongue atrophy	2/15	OMIM:616155
3508	IGHMBP2	HP:0001762	Talipes equinovarus	1/11	OMIM:604320
3508	IGHMBP2	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:616155
3514	IGKC	HP:0003765	Psoriasiform dermatitis	HP:0040284	ORPHA:183675
3514	IGKC	HP:0032262	Pulmonary tuberculosis	HP:0040284	ORPHA:183675
3514	IGKC	HP:0032275	Recurrent shingles	HP:0040284	ORPHA:183675
3514	IGKC	HP:0100806	Sepsis	HP:0040284	ORPHA:183675
3514	IGKC	HP:0001370	Rheumatoid arthritis	HP:0040284	ORPHA:183675
3514	IGKC	HP:0001369	Arthritis	HP:0040283	ORPHA:183675
3514	IGKC	HP:0000031	Epididymitis	HP:0040284	ORPHA:183675
3514	IGKC	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:183675
3514	IGKC	HP:0000007	Autosomal recessive inheritance	-	OMIM:614102
3514	IGKC	HP:0002665	Lymphoma	HP:0040284	ORPHA:183675
3514	IGKC	HP:0002608	Celiac disease	HP:0040284	ORPHA:183675
3514	IGKC	HP:0500093	Food allergy	HP:0040284	ORPHA:183675
3514	IGKC	HP:0002783	Recurrent lower respiratory tract infections	HP:0040282	ORPHA:183675
3514	IGKC	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:183675
3514	IGKC	HP:0002719	Recurrent infections	HP:0040282	ORPHA:183675
3514	IGKC	HP:0002719	Recurrent infections	1/1	OMIM:614102
3514	IGKC	HP:0002718	Recurrent bacterial infections	HP:0040282	ORPHA:183675
3514	IGKC	HP:0002725	Systemic lupus erythematosus	HP:0040283	ORPHA:183675
3514	IGKC	HP:0002720	Decreased circulating IgA concentration	HP:0040283	ORPHA:183675
3514	IGKC	HP:0002028	Chronic diarrhea	1/1	OMIM:614102
3514	IGKC	HP:0030998	Cerebrospinal fluid rhinorrhoea	HP:0040284	ORPHA:183675
3514	IGKC	HP:0003326	Myalgia	HP:0040283	ORPHA:183675
3514	IGKC	HP:0002014	Diarrhea	HP:0040283	OMIM:614102
3514	IGKC	HP:0100523	Liver abscess	HP:0040284	ORPHA:183675
3514	IGKC	HP:0002099	Asthma	HP:0040282	ORPHA:183675
3514	IGKC	HP:0002090	Pneumonia	HP:0040283	ORPHA:183675
3514	IGKC	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:183675
3514	IGKC	HP:6000261	Absent circulating immunoglobulin kappa chain	1/1	OMIM:614102
3514	IGKC	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:183675
3514	IGKC	HP:0002205	Recurrent respiratory infections	1/1	OMIM:614102
3514	IGKC	HP:0020096	Recurrent streptococcal infections	HP:0040283	ORPHA:183675
3514	IGKC	HP:0001047	Atopic dermatitis	HP:0040283	ORPHA:183675
3514	IGKC	HP:0001082	Cholecystitis	HP:0040284	ORPHA:183675
3514	IGKC	HP:0032169	Severe infection	HP:0040282	ORPHA:183675
3514	IGKC	HP:0004315	Decreased circulating IgG concentration	HP:0040283	ORPHA:183675
3514	IGKC	HP:0011463	Childhood onset	1/1	OMIM:614102
3514	IGKC	HP:0003193	Allergic rhinitis	HP:0040283	ORPHA:183675
3514	IGKC	HP:0100324	Scleroderma	HP:0040284	ORPHA:183675
3514	IGKC	HP:0000819	Diabetes mellitus	HP:0040284	ORPHA:183675
3514	IGKC	HP:0000988	Skin rash	HP:0040284	ORPHA:183675
3514	IGKC	HP:0002829	Arthralgia	HP:0040283	ORPHA:183675
3514	IGKC	HP:0002850	Decreased circulating total IgM	HP:0040283	ORPHA:183675
3514	IGKC	HP:0012378	Fatigue	HP:0040283	ORPHA:183675
3514	IGKC	HP:0012387	Bronchitis	HP:0040283	ORPHA:183675
3514	IGKC	HP:0005231	Chronic gastritis	HP:0040283	ORPHA:183675
3514	IGKC	HP:0006562	Viral hepatitis	HP:0040284	ORPHA:183675
3514	IGKC	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:183675
3514	IGKC	HP:0030151	Cholangitis	HP:0040284	ORPHA:183675
3514	IGKC	HP:0002960	Autoimmunity	HP:0040282	ORPHA:183675
3514	IGKC	HP:0005353	Recurrent herpes	HP:0040284	ORPHA:183675
3514	IGKC	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:183675
3514	IGKC	HP:0012476	Decreased specific pneumococcal antibody level	HP:0040284	ORPHA:183675
3514	IGKC	HP:0011109	Chronic sinusitis	HP:0040283	ORPHA:183675
3514	IGKC	HP:0011110	Recurrent tonsillitis	HP:0040283	ORPHA:183675
3516	RBPJ	HP:0001171	Split hand	HP:0040282	ORPHA:974
3516	RBPJ	HP:0001156	Brachydactyly	HP:0040282	ORPHA:974
3516	RBPJ	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:974
3516	RBPJ	HP:0009882	Short distal phalanx of finger	2/6	OMIM:614814
3516	RBPJ	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3516	RBPJ	HP:0001293	Cranial nerve compression	-	OMIM:131300
3516	RBPJ	HP:0001276	Hypertonia	HP:0040283	ORPHA:974
3516	RBPJ	HP:0001269	Hemiparesis	HP:0040283	ORPHA:974
3516	RBPJ	HP:0001256	Intellectual disability, mild	2/6	OMIM:614814
3516	RBPJ	HP:0001250	Seizure	HP:0040283	ORPHA:974
3516	RBPJ	HP:0001252	Hypotonia	2/7	OMIM:615777
3516	RBPJ	HP:0001249	Intellectual disability	HP:0040283	ORPHA:974
3516	RBPJ	HP:0001249	Intellectual disability	5/7	OMIM:615777
3516	RBPJ	HP:0001263	Global developmental delay	-	OMIM:615777
3516	RBPJ	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:974
3516	RBPJ	HP:0002515	Waddling gait	54/102	OMIM:131300
3516	RBPJ	HP:0001394	Cirrhosis	HP:0040283	ORPHA:974
3516	RBPJ	HP:0001382	Joint hypermobility	-	OMIM:615777
3516	RBPJ	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3516	RBPJ	HP:0001362	Calvarial skull defect	HP:0040281	ORPHA:974
3516	RBPJ	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3516	RBPJ	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3516	RBPJ	HP:0001324	Muscle weakness	40/96	OMIM:131300
3516	RBPJ	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3516	RBPJ	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3516	RBPJ	HP:0000006	Autosomal dominant inheritance	-	OMIM:614814
3516	RBPJ	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3516	RBPJ	HP:0002650	Scoliosis	12/14	OMIM:131300
3516	RBPJ	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3516	RBPJ	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:974
3516	RBPJ	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3516	RBPJ	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3516	RBPJ	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3516	RBPJ	HP:0000175	Cleft palate	2/7	OMIM:615777
3516	RBPJ	HP:0001409	Portal hypertension	HP:0040283	ORPHA:974
3516	RBPJ	HP:0004691	2-3 toe syndactyly	1/6	OMIM:614814
3516	RBPJ	HP:0002084	Encephalocele	HP:0040283	ORPHA:974
3516	RBPJ	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:974
3516	RBPJ	HP:0002040	Esophageal varix	HP:0040283	ORPHA:974
3516	RBPJ	HP:0003388	Easy fatigability	36/76	OMIM:131300
3516	RBPJ	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3516	RBPJ	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:974
3516	RBPJ	HP:0002132	Porencephalic cyst	HP:0040283	ORPHA:974
3516	RBPJ	HP:0011917	Short 5th toe	1/6	OMIM:614814
3516	RBPJ	HP:0002194	Delayed gross motor development	1/6	OMIM:614814
3516	RBPJ	HP:0003577	Congenital onset	6/6	OMIM:614814
3516	RBPJ	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:974
3516	RBPJ	HP:0010624	Aplastic/hypoplastic toenail	HP:0040283	ORPHA:974
3516	RBPJ	HP:0003510	Severe short stature	7/7	OMIM:615777
3516	RBPJ	HP:0008398	Hypoplastic fifth fingernail	1/6	OMIM:614814
3516	RBPJ	HP:0001057	Aplasia cutis congenita	2/6	OMIM:614814
3516	RBPJ	HP:0001057	Aplasia cutis congenita	HP:0040281	ORPHA:974
3516	RBPJ	HP:0002353	EEG abnormality	HP:0040283	ORPHA:974
3516	RBPJ	HP:0002315	Headache	-	OMIM:131300
3516	RBPJ	HP:0004976	Knee dislocation	6/7	OMIM:615777
3516	RBPJ	HP:0009803	Short phalanx of finger	-	OMIM:615777
3516	RBPJ	HP:0010760	Absent toe	1/6	OMIM:614814
3516	RBPJ	HP:0010760	Absent toe	HP:0040281	ORPHA:974
3516	RBPJ	HP:0010743	Short metatarsal	1/6	OMIM:614814
3516	RBPJ	HP:0009763	Limb pain	63/92	OMIM:131300
3516	RBPJ	HP:0004935	Pulmonary artery atresia	HP:0040282	ORPHA:974
3516	RBPJ	HP:0003621	Juvenile onset	-	OMIM:131300
3516	RBPJ	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3516	RBPJ	HP:0004279	Short palm	1/6	OMIM:614814
3516	RBPJ	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3516	RBPJ	HP:6001056	Out-toeing	-	OMIM:131300
3516	RBPJ	HP:0000651	Diplopia	-	OMIM:131300
3516	RBPJ	HP:0001956	Truncal obesity	2/7	OMIM:615777
3516	RBPJ	HP:0001903	Anemia	HP:0040283	OMIM:131300
3516	RBPJ	HP:0010049	Short metacarpal	-	OMIM:615777
3516	RBPJ	HP:0000678	Dental crowding	-	OMIM:615777
3516	RBPJ	HP:0000670	Carious teeth	-	OMIM:131300
3516	RBPJ	HP:0011304	Broad thumb	2/7	OMIM:615777
3516	RBPJ	HP:0000668	Hypodontia	-	OMIM:615777
3516	RBPJ	HP:0000664	Synophrys	-	OMIM:615777
3516	RBPJ	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:974
3516	RBPJ	HP:0004396	Poor appetite	-	OMIM:131300
3516	RBPJ	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3516	RBPJ	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3516	RBPJ	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3516	RBPJ	HP:0003026	Short long bone	7/7	OMIM:615777
3516	RBPJ	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3516	RBPJ	HP:0012745	Short palpebral fissure	1/6	OMIM:614814
3516	RBPJ	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3516	RBPJ	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3516	RBPJ	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3516	RBPJ	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:974
3516	RBPJ	HP:0000750	Delayed speech and language development	-	OMIM:615777
3516	RBPJ	HP:0011461	Fetal onset	7/7	OMIM:615777
3516	RBPJ	HP:0000774	Narrow chest	2/7	OMIM:615777
3516	RBPJ	HP:0000926	Platyspondyly	1/7	OMIM:615777
3516	RBPJ	HP:0003180	Flat acetabular roof	-	OMIM:615777
3516	RBPJ	HP:0004482	Relative macrocephaly	-	OMIM:615777
3516	RBPJ	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3516	RBPJ	HP:0000823	Delayed puberty	-	OMIM:131300
3516	RBPJ	HP:0000894	Short clavicles	-	OMIM:615777
3516	RBPJ	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3516	RBPJ	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3516	RBPJ	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:974
3516	RBPJ	HP:0008070	Sparse hair	HP:0040281	ORPHA:974
3516	RBPJ	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:974
3516	RBPJ	HP:0000286	Epicanthus	1/7	OMIM:615777
3516	RBPJ	HP:0000280	Coarse facial features	2/7	OMIM:615777
3516	RBPJ	HP:0001596	Alopecia	HP:0040283	ORPHA:974
3516	RBPJ	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:974
3516	RBPJ	HP:0002814	Abnormality of the lower limb	HP:0040281	ORPHA:974
3516	RBPJ	HP:0002827	Hip dislocation	3/7	OMIM:615777
3516	RBPJ	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:974
3516	RBPJ	HP:0000252	Microcephaly	2/6	OMIM:614814
3516	RBPJ	HP:0000252	Microcephaly	-	OMIM:615777
3516	RBPJ	HP:0002857	Genu valgum	-	OMIM:131300
3516	RBPJ	HP:0001541	Ascites	HP:0040283	ORPHA:974
3516	RBPJ	HP:0001533	Slender build	-	OMIM:131300
3516	RBPJ	HP:0001508	Failure to thrive	HP:0040281	ORPHA:974
3516	RBPJ	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3516	RBPJ	HP:0007807	Optic nerve compression	-	OMIM:131300
3516	RBPJ	HP:0012368	Flat face	7/7	OMIM:615777
3516	RBPJ	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3516	RBPJ	HP:0000365	Hearing impairment	10/67	OMIM:131300
3516	RBPJ	HP:0000343	Long philtrum	1/7	OMIM:615777
3516	RBPJ	HP:0011001	Increased bone mineral density	-	OMIM:131300
3516	RBPJ	HP:0000311	Round face	2/7	OMIM:615777
3516	RBPJ	HP:0001622	Premature birth	HP:0040283	ORPHA:974
3516	RBPJ	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:974
3516	RBPJ	HP:0002970	Genu varum	-	OMIM:615777
3516	RBPJ	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:974
3516	RBPJ	HP:0000303	Mandibular prognathia	-	OMIM:131300
3516	RBPJ	HP:0004050	Absent hand	HP:0040281	ORPHA:974
3516	RBPJ	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3516	RBPJ	HP:0000486	Strabismus	HP:0040282	ORPHA:974
3516	RBPJ	HP:0000470	Short neck	1/7	OMIM:615777
3516	RBPJ	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3516	RBPJ	HP:0001763	Pes planus	1/7	OMIM:615777
3516	RBPJ	HP:0000518	Cataract	HP:0040282	ORPHA:974
3516	RBPJ	HP:0001840	Metatarsus adductus	-	OMIM:615777
3516	RBPJ	HP:0000520	Proptosis	2/4	OMIM:131300
3516	RBPJ	HP:0000520	Proptosis	7/7	OMIM:615777
3516	RBPJ	HP:0001804	Hypoplastic fingernail	HP:0040283	ORPHA:974
3516	RBPJ	HP:0001817	Absent fingernail	HP:0040283	ORPHA:974
3516	RBPJ	HP:0000592	Blue sclerae	2/7	OMIM:615777
3516	RBPJ	HP:0000568	Microphthalmia	HP:0040282	ORPHA:974
3516	RBPJ	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3516	RBPJ	HP:0001883	Talipes	HP:0040282	ORPHA:974
3516	RBPJ	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:974
3516	RBPJ	HP:0012514	Lower limb pain	4/4	OMIM:131300
3516	RBPJ	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:974
3543	IGLL1	HP:0100806	Sepsis	HP:0040283	ORPHA:33110
3543	IGLL1	HP:0001287	Meningitis	-	OMIM:613500
3543	IGLL1	HP:0001287	Meningitis	HP:0040283	ORPHA:33110
3543	IGLL1	HP:0001369	Arthritis	HP:0040282	ORPHA:33110
3543	IGLL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613500
3543	IGLL1	HP:0012115	Hepatitis	HP:0040283	ORPHA:33110
3543	IGLL1	HP:0002754	Osteomyelitis	HP:0040282	ORPHA:33110
3543	IGLL1	HP:0002719	Recurrent infections	HP:0040281	ORPHA:33110
3543	IGLL1	HP:0002718	Recurrent bacterial infections	-	OMIM:613500
3543	IGLL1	HP:0002720	Decreased circulating IgA concentration	1/1	OMIM:613500
3543	IGLL1	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:33110
3543	IGLL1	HP:0002024	Malabsorption	HP:0040283	ORPHA:33110
3543	IGLL1	HP:0002014	Diarrhea	HP:0040281	ORPHA:33110
3543	IGLL1	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:33110
3543	IGLL1	HP:0003593	Infantile onset	1/1	OMIM:613500
3543	IGLL1	HP:0002205	Recurrent respiratory infections	-	OMIM:613500
3543	IGLL1	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:33110
3543	IGLL1	HP:0100658	Cellulitis	HP:0040283	ORPHA:33110
3543	IGLL1	HP:0200043	Verrucae	HP:0040283	ORPHA:33110
3543	IGLL1	HP:0001944	Dehydration	HP:0040283	ORPHA:33110
3543	IGLL1	HP:0001945	Fever	HP:0040281	ORPHA:33110
3543	IGLL1	HP:0012735	Cough	HP:0040281	ORPHA:33110
3543	IGLL1	HP:0004432	Agammaglobulinemia	-	OMIM:613500
3543	IGLL1	HP:0004432	Agammaglobulinemia	HP:0040281	ORPHA:33110
3543	IGLL1	HP:0000988	Skin rash	HP:0040281	ORPHA:33110
3543	IGLL1	HP:0000286	Epicanthus	HP:0040283	ORPHA:33110
3543	IGLL1	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:33110
3543	IGLL1	HP:0000246	Sinusitis	HP:0040281	ORPHA:33110
3543	IGLL1	HP:0000218	High palate	HP:0040283	ORPHA:33110
3543	IGLL1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:33110
3543	IGLL1	HP:0002850	Decreased circulating total IgM	1/1	OMIM:613500
3543	IGLL1	HP:0002843	Abnormal T cell morphology	0/1	OMIM:613500
3543	IGLL1	HP:0012378	Fatigue	HP:0040281	ORPHA:33110
3543	IGLL1	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:33110
3543	IGLL1	HP:0000389	Chronic otitis media	HP:0040281	ORPHA:33110
3543	IGLL1	HP:0006532	Recurrent pneumonia	-	OMIM:613500
3543	IGLL1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33110
3543	IGLL1	HP:0000403	Recurrent otitis media	1/1	OMIM:613500
3543	IGLL1	HP:0030252	Absent circulating B cells	1/1	OMIM:613500
3543	IGLL1	HP:0000509	Conjunctivitis	HP:0040281	ORPHA:33110
3543	IGLL1	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33110
3547	IGSF1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3547	IGSF1	HP:0001293	Cranial nerve compression	-	OMIM:131300
3547	IGSF1	HP:0001252	Hypotonia	2/7	OMIM:615777
3547	IGSF1	HP:0001249	Intellectual disability	5/7	OMIM:615777
3547	IGSF1	HP:0001263	Global developmental delay	-	OMIM:615777
3547	IGSF1	HP:0002515	Waddling gait	54/102	OMIM:131300
3547	IGSF1	HP:0001382	Joint hypermobility	-	OMIM:615777
3547	IGSF1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3547	IGSF1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3547	IGSF1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3547	IGSF1	HP:0001324	Muscle weakness	40/96	OMIM:131300
3547	IGSF1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3547	IGSF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3547	IGSF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3547	IGSF1	HP:0002650	Scoliosis	12/14	OMIM:131300
3547	IGSF1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3547	IGSF1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3547	IGSF1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3547	IGSF1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3547	IGSF1	HP:0000175	Cleft palate	2/7	OMIM:615777
3547	IGSF1	HP:0001419	X-linked recessive inheritance	-	OMIM:300888
3547	IGSF1	HP:0003388	Easy fatigability	36/76	OMIM:131300
3547	IGSF1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3547	IGSF1	HP:0008202	Reduced circulating prolactin concentration	16/24	OMIM:300888
3547	IGSF1	HP:0003510	Severe short stature	7/7	OMIM:615777
3547	IGSF1	HP:0002315	Headache	-	OMIM:131300
3547	IGSF1	HP:0004976	Knee dislocation	6/7	OMIM:615777
3547	IGSF1	HP:0009803	Short phalanx of finger	-	OMIM:615777
3547	IGSF1	HP:0009763	Limb pain	63/92	OMIM:131300
3547	IGSF1	HP:0003621	Juvenile onset	-	OMIM:131300
3547	IGSF1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3547	IGSF1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3547	IGSF1	HP:6001056	Out-toeing	-	OMIM:131300
3547	IGSF1	HP:0000651	Diplopia	-	OMIM:131300
3547	IGSF1	HP:0001956	Truncal obesity	2/7	OMIM:615777
3547	IGSF1	HP:0001903	Anemia	HP:0040283	OMIM:131300
3547	IGSF1	HP:0010049	Short metacarpal	-	OMIM:615777
3547	IGSF1	HP:0000678	Dental crowding	-	OMIM:615777
3547	IGSF1	HP:0000670	Carious teeth	-	OMIM:131300
3547	IGSF1	HP:0011304	Broad thumb	2/7	OMIM:615777
3547	IGSF1	HP:0000668	Hypodontia	-	OMIM:615777
3547	IGSF1	HP:0000664	Synophrys	-	OMIM:615777
3547	IGSF1	HP:0004396	Poor appetite	-	OMIM:131300
3547	IGSF1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3547	IGSF1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3547	IGSF1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3547	IGSF1	HP:0003026	Short long bone	7/7	OMIM:615777
3547	IGSF1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3547	IGSF1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3547	IGSF1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3547	IGSF1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3547	IGSF1	HP:0000750	Delayed speech and language development	-	OMIM:615777
3547	IGSF1	HP:0011461	Fetal onset	7/7	OMIM:615777
3547	IGSF1	HP:0000774	Narrow chest	2/7	OMIM:615777
3547	IGSF1	HP:0000926	Platyspondyly	1/7	OMIM:615777
3547	IGSF1	HP:0003180	Flat acetabular roof	-	OMIM:615777
3547	IGSF1	HP:0004482	Relative macrocephaly	-	OMIM:615777
3547	IGSF1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3547	IGSF1	HP:0000821	Hypothyroidism	17/17	OMIM:300888
3547	IGSF1	HP:0000823	Delayed puberty	-	OMIM:131300
3547	IGSF1	HP:0000894	Short clavicles	-	OMIM:615777
3547	IGSF1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3547	IGSF1	HP:0033075	Inappropriately normal thyroid-stimulating hormone level	16/16	OMIM:300888
3547	IGSF1	HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test	-	OMIM:300888
3547	IGSF1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3547	IGSF1	HP:0000286	Epicanthus	1/7	OMIM:615777
3547	IGSF1	HP:0000280	Coarse facial features	2/7	OMIM:615777
3547	IGSF1	HP:0002827	Hip dislocation	3/7	OMIM:615777
3547	IGSF1	HP:0000252	Microcephaly	-	OMIM:615777
3547	IGSF1	HP:0025502	Overweight	-	OMIM:300888
3547	IGSF1	HP:0002857	Genu valgum	-	OMIM:131300
3547	IGSF1	HP:0001533	Slender build	-	OMIM:131300
3547	IGSF1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3547	IGSF1	HP:0007807	Optic nerve compression	-	OMIM:131300
3547	IGSF1	HP:0012368	Flat face	7/7	OMIM:615777
3547	IGSF1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3547	IGSF1	HP:0000365	Hearing impairment	10/67	OMIM:131300
3547	IGSF1	HP:0000343	Long philtrum	1/7	OMIM:615777
3547	IGSF1	HP:0011001	Increased bone mineral density	-	OMIM:131300
3547	IGSF1	HP:0000311	Round face	2/7	OMIM:615777
3547	IGSF1	HP:0002970	Genu varum	-	OMIM:615777
3547	IGSF1	HP:0000303	Mandibular prognathia	-	OMIM:131300
3547	IGSF1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3547	IGSF1	HP:0000470	Short neck	1/7	OMIM:615777
3547	IGSF1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3547	IGSF1	HP:0001763	Pes planus	1/7	OMIM:615777
3547	IGSF1	HP:0001840	Metatarsus adductus	-	OMIM:615777
3547	IGSF1	HP:0000520	Proptosis	2/4	OMIM:131300
3547	IGSF1	HP:0000520	Proptosis	7/7	OMIM:615777
3547	IGSF1	HP:0000592	Blue sclerae	2/7	OMIM:615777
3547	IGSF1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3547	IGSF1	HP:0012514	Lower limb pain	4/4	OMIM:131300
3549	IHH	HP:0001169	Broad palm	-	OMIM:112500
3549	IHH	HP:0001156	Brachydactyly	-	OMIM:112500
3549	IHH	HP:0001156	Brachydactyly	6/6	OMIM:607778
3549	IHH	HP:0009882	Short distal phalanx of finger	-	OMIM:607778
3549	IHH	HP:0009882	Short distal phalanx of finger	-	OMIM:112500
3549	IHH	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3549	IHH	HP:0001293	Cranial nerve compression	-	OMIM:131300
3549	IHH	HP:0001252	Hypotonia	2/7	OMIM:615777
3549	IHH	HP:0001249	Intellectual disability	5/7	OMIM:615777
3549	IHH	HP:0001249	Intellectual disability	0/4	OMIM:607778
3549	IHH	HP:0001263	Global developmental delay	-	OMIM:615777
3549	IHH	HP:0001230	Broad metacarpals	HP:0040283	ORPHA:93388
3549	IHH	HP:0100864	Short femoral neck	6/6	OMIM:607778
3549	IHH	HP:0006059	Cone-shaped metacarpal epiphyses	-	OMIM:607778
3549	IHH	HP:0006059	Cone-shaped metacarpal epiphyses	HP:0040282	ORPHA:63446
3549	IHH	HP:0001204	Distal symphalangism of hands	-	OMIM:112500
3549	IHH	HP:0001204	Distal symphalangism of hands	HP:0040283	ORPHA:93388
3549	IHH	HP:0001216	Delayed ossification of carpal bones	5/5	OMIM:607778
3549	IHH	HP:0002515	Waddling gait	54/102	OMIM:131300
3549	IHH	HP:0001382	Joint hypermobility	-	OMIM:615777
3549	IHH	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3549	IHH	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3549	IHH	HP:0006236	Slender metacarpals	-	OMIM:112500
3549	IHH	HP:0008873	Disproportionate short-limb short stature	-	OMIM:607778
3549	IHH	HP:0006213	Thin proximal phalanges with broad epiphyses of the hand	-	OMIM:112500
3549	IHH	HP:0006216	Single interphalangeal crease of fifth finger	2/2	OMIM:607778
3549	IHH	HP:0006165	Proportionate shortening of all digits	-	OMIM:112500
3549	IHH	HP:0006146	Broad metacarpal epiphyses	-	OMIM:112500
3549	IHH	HP:0008789	Cone-shaped capital femoral epiphysis	-	OMIM:607778
3549	IHH	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3549	IHH	HP:0001324	Muscle weakness	40/96	OMIM:131300
3549	IHH	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3549	IHH	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3549	IHH	HP:0000007	Autosomal recessive inheritance	-	OMIM:607778
3549	IHH	HP:0000006	Autosomal dominant inheritance	-	OMIM:112500
3549	IHH	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3549	IHH	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:63446
3549	IHH	HP:0002650	Scoliosis	HP:0040283	ORPHA:63446
3549	IHH	HP:0002650	Scoliosis	HP:0040283	ORPHA:93388
3549	IHH	HP:0002650	Scoliosis	12/14	OMIM:131300
3549	IHH	HP:0002650	Scoliosis	1/6	OMIM:607778
3549	IHH	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3549	IHH	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3549	IHH	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3549	IHH	HP:6000884	Enlarged humeral head	1/4	OMIM:607778
3549	IHH	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3549	IHH	HP:0000175	Cleft palate	2/7	OMIM:615777
3549	IHH	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:63446
3549	IHH	HP:0003367	Abnormal femoral neck morphology	HP:0040281	ORPHA:63446
3549	IHH	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:63446
3549	IHH	HP:0003300	Ovoid vertebral bodies	HP:0040282	ORPHA:63446
3549	IHH	HP:0003300	Ovoid vertebral bodies	-	OMIM:607778
3549	IHH	HP:0003388	Easy fatigability	36/76	OMIM:131300
3549	IHH	HP:0009462	Radial deviation of the 3rd finger	-	OMIM:112500
3549	IHH	HP:0009467	Radial deviation of the 2nd finger	-	OMIM:112500
3549	IHH	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3549	IHH	HP:0010575	Dysplasia of the femoral head	-	OMIM:607778
3549	IHH	HP:0010579	Cone-shaped epiphysis	HP:0040281	ORPHA:63446
3549	IHH	HP:0010579	Cone-shaped epiphysis	-	OMIM:607778
3549	IHH	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:93388
3549	IHH	HP:0009638	Short proximal phalanx of thumb	-	OMIM:112500
3549	IHH	HP:0009638	Short proximal phalanx of thumb	-	OMIM:607778
3549	IHH	HP:0003510	Severe short stature	7/7	OMIM:615777
3549	IHH	HP:0001032	Absent distal interphalangeal creases	-	OMIM:112500
3549	IHH	HP:0002315	Headache	-	OMIM:131300
3549	IHH	HP:0004976	Knee dislocation	6/7	OMIM:615777
3549	IHH	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	-	OMIM:112500
3549	IHH	HP:0009826	Limb undergrowth	6/6	OMIM:607778
3549	IHH	HP:0009803	Short phalanx of finger	-	OMIM:615777
3549	IHH	HP:0009778	Short thumb	HP:0040281	ORPHA:93388
3549	IHH	HP:0009763	Limb pain	63/92	OMIM:131300
3549	IHH	HP:0003621	Juvenile onset	-	OMIM:131300
3549	IHH	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3549	IHH	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:112500
3549	IHH	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:93388
3549	IHH	HP:0004279	Short palm	HP:0040281	ORPHA:63446
3549	IHH	HP:0004279	Short palm	-	OMIM:607778
3549	IHH	HP:0004279	Short palm	-	OMIM:112500
3549	IHH	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3549	IHH	HP:6001056	Out-toeing	-	OMIM:131300
3549	IHH	HP:0000651	Diplopia	-	OMIM:131300
3549	IHH	HP:0001956	Truncal obesity	2/7	OMIM:615777
3549	IHH	HP:0001903	Anemia	HP:0040283	OMIM:131300
3549	IHH	HP:0010049	Short metacarpal	-	OMIM:615777
3549	IHH	HP:0010049	Short metacarpal	-	OMIM:607778
3549	IHH	HP:0010049	Short metacarpal	-	OMIM:112500
3549	IHH	HP:0010017	Cone-shaped epiphysis of the 1st metacarpal	-	OMIM:607778
3549	IHH	HP:0000678	Dental crowding	-	OMIM:615777
3549	IHH	HP:0000670	Carious teeth	-	OMIM:131300
3549	IHH	HP:0011304	Broad thumb	2/7	OMIM:615777
3549	IHH	HP:0000668	Hypodontia	-	OMIM:615777
3549	IHH	HP:0000664	Synophrys	-	OMIM:615777
3549	IHH	HP:0004322	Short stature	HP:0040281	ORPHA:63446
3549	IHH	HP:0004322	Short stature	-	OMIM:112500
3549	IHH	HP:0004322	Short stature	HP:0040281	ORPHA:93388
3549	IHH	HP:0004322	Short stature	6/6	OMIM:607778
3549	IHH	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes	-	OMIM:112500
3549	IHH	HP:0004396	Poor appetite	-	OMIM:131300
3549	IHH	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3549	IHH	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3549	IHH	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3549	IHH	HP:0003026	Short long bone	7/7	OMIM:615777
3549	IHH	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3549	IHH	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:93388
3549	IHH	HP:0003022	Hypoplasia of the ulna	-	OMIM:607778
3549	IHH	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:63446
3549	IHH	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3549	IHH	HP:0000767	Pectus excavatum	1/6	OMIM:607778
3549	IHH	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:63446
3549	IHH	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3549	IHH	HP:0000768	Pectus carinatum	1/6	OMIM:607778
3549	IHH	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3549	IHH	HP:0000750	Delayed speech and language development	-	OMIM:615777
3549	IHH	HP:0011461	Fetal onset	7/7	OMIM:615777
3549	IHH	HP:0010109	Short hallux	HP:0040281	ORPHA:93388
3549	IHH	HP:0010107	Short proximal phalanx of hallux	-	OMIM:112500
3549	IHH	HP:0000774	Narrow chest	HP:0040283	ORPHA:63446
3549	IHH	HP:0000774	Narrow chest	2/7	OMIM:615777
3549	IHH	HP:0000774	Narrow chest	3/6	OMIM:607778
3549	IHH	HP:0000773	Short ribs	-	OMIM:607778
3549	IHH	HP:0005736	Short tibia	-	OMIM:607778
3549	IHH	HP:0000926	Platyspondyly	1/7	OMIM:615777
3549	IHH	HP:0003180	Flat acetabular roof	-	OMIM:615777
3549	IHH	HP:0004482	Relative macrocephaly	-	OMIM:615777
3549	IHH	HP:0004482	Relative macrocephaly	-	OMIM:607778
3549	IHH	HP:0005792	Short humerus	-	OMIM:607778
3549	IHH	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3549	IHH	HP:0000887	Cupped ribs	3/6	OMIM:607778
3549	IHH	HP:0003099	Fibular overgrowth	-	OMIM:607778
3549	IHH	HP:0003097	Short femur	-	OMIM:607778
3549	IHH	HP:0000823	Delayed puberty	-	OMIM:131300
3549	IHH	HP:0009279	Radial deviation of the 4th finger	-	OMIM:112500
3549	IHH	HP:0010241	Short proximal phalanx of finger	-	OMIM:607778
3549	IHH	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	-	OMIM:607778
3549	IHH	HP:0000894	Short clavicles	-	OMIM:615777
3549	IHH	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3549	IHH	HP:0010306	Short thorax	HP:0040283	ORPHA:63446
3549	IHH	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3549	IHH	HP:0005819	Short middle phalanx of finger	6/6	OMIM:607778
3549	IHH	HP:0005819	Short middle phalanx of finger	HP:0040281	ORPHA:93388
3549	IHH	HP:0000286	Epicanthus	1/7	OMIM:615777
3549	IHH	HP:0000280	Coarse facial features	2/7	OMIM:615777
3549	IHH	HP:0000256	Macrocephaly	HP:0040283	ORPHA:63446
3549	IHH	HP:0006438	Enlargement of the distal femoral epiphysis	-	OMIM:607778
3549	IHH	HP:0002812	Coxa vara	HP:0040281	ORPHA:63446
3549	IHH	HP:0002812	Coxa vara	-	OMIM:607778
3549	IHH	HP:0002827	Hip dislocation	3/7	OMIM:615777
3549	IHH	HP:0000252	Microcephaly	-	OMIM:615777
3549	IHH	HP:0002857	Genu valgum	-	OMIM:131300
3549	IHH	HP:0002869	Flared iliac wing	HP:0040282	ORPHA:63446
3549	IHH	HP:0002869	Flared iliac wing	-	OMIM:607778
3549	IHH	HP:0001533	Slender build	-	OMIM:131300
3549	IHH	HP:0002866	Hypoplastic iliac wing	-	OMIM:607778
3549	IHH	HP:0030033	Small finger	-	OMIM:607778
3549	IHH	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3549	IHH	HP:0007807	Optic nerve compression	-	OMIM:131300
3549	IHH	HP:0012368	Flat face	7/7	OMIM:615777
3549	IHH	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3549	IHH	HP:0002938	Lumbar hyperlordosis	4/6	OMIM:607778
3549	IHH	HP:0005194	Flattened metatarsal heads	-	OMIM:112500
3549	IHH	HP:0000365	Hearing impairment	10/67	OMIM:131300
3549	IHH	HP:0000343	Long philtrum	1/7	OMIM:615777
3549	IHH	HP:0011001	Increased bone mineral density	-	OMIM:131300
3549	IHH	HP:0002983	Micromelia	HP:0040281	ORPHA:63446
3549	IHH	HP:0002983	Micromelia	-	OMIM:607778
3549	IHH	HP:0000311	Round face	2/7	OMIM:615777
3549	IHH	HP:0002986	Radial bowing	3/6	OMIM:607778
3549	IHH	HP:0002984	Hypoplasia of the radius	-	OMIM:607778
3549	IHH	HP:0002970	Genu varum	HP:0040282	ORPHA:63446
3549	IHH	HP:0002970	Genu varum	-	OMIM:615777
3549	IHH	HP:0002970	Genu varum	-	OMIM:607778
3549	IHH	HP:0000303	Mandibular prognathia	-	OMIM:131300
3549	IHH	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3549	IHH	HP:0001792	Small nail	HP:0040282	ORPHA:63446
3549	IHH	HP:0000470	Short neck	1/7	OMIM:615777
3549	IHH	HP:0001799	Short nail	4/4	OMIM:607778
3549	IHH	HP:0001773	Short foot	HP:0040281	ORPHA:93388
3549	IHH	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3549	IHH	HP:0001763	Pes planus	1/7	OMIM:615777
3549	IHH	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:93388
3549	IHH	HP:0001840	Metatarsus adductus	-	OMIM:615777
3549	IHH	HP:0000520	Proptosis	2/4	OMIM:131300
3549	IHH	HP:0000520	Proptosis	7/7	OMIM:615777
3549	IHH	HP:0001821	Broad nail	4/4	OMIM:607778
3549	IHH	HP:0001821	Broad nail	HP:0040282	ORPHA:63446
3549	IHH	HP:0000592	Blue sclerae	2/7	OMIM:615777
3549	IHH	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3549	IHH	HP:0012514	Lower limb pain	4/4	OMIM:131300
3551	IKBKB	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3551	IKBKB	HP:0032218	Decreased proportion of CD4-positive T cells	2/2	OMIM:618204
3551	IKBKB	HP:0001293	Cranial nerve compression	-	OMIM:131300
3551	IKBKB	HP:0001252	Hypotonia	2/7	OMIM:615777
3551	IKBKB	HP:0001249	Intellectual disability	5/7	OMIM:615777
3551	IKBKB	HP:0001263	Global developmental delay	-	OMIM:615777
3551	IKBKB	HP:0002515	Waddling gait	54/102	OMIM:131300
3551	IKBKB	HP:0001382	Joint hypermobility	-	OMIM:615777
3551	IKBKB	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3551	IKBKB	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3551	IKBKB	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3551	IKBKB	HP:0001324	Muscle weakness	40/96	OMIM:131300
3551	IKBKB	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3551	IKBKB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3551	IKBKB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615592
3551	IKBKB	HP:0000006	Autosomal dominant inheritance	-	OMIM:618204
3551	IKBKB	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3551	IKBKB	HP:0002650	Scoliosis	12/14	OMIM:131300
3551	IKBKB	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3551	IKBKB	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3551	IKBKB	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3551	IKBKB	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3551	IKBKB	HP:0000175	Cleft palate	2/7	OMIM:615777
3551	IKBKB	HP:0031292	Cutaneous abscess	2/4	OMIM:618204
3551	IKBKB	HP:0002719	Recurrent infections	4/4	OMIM:615592
3551	IKBKB	HP:0002728	Chronic mucocutaneous candidiasis	1/4	OMIM:618204
3551	IKBKB	HP:0002721	Immunodeficiency	-	OMIM:615592
3551	IKBKB	HP:0002028	Chronic diarrhea	-	OMIM:615592
3551	IKBKB	HP:0003388	Easy fatigability	36/76	OMIM:131300
3551	IKBKB	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3551	IKBKB	HP:0003593	Infantile onset	4/4	OMIM:615592
3551	IKBKB	HP:0002205	Recurrent respiratory infections	2/4	OMIM:618204
3551	IKBKB	HP:0003510	Severe short stature	7/7	OMIM:615777
3551	IKBKB	HP:0002315	Headache	-	OMIM:131300
3551	IKBKB	HP:0004976	Knee dislocation	6/7	OMIM:615777
3551	IKBKB	HP:0009803	Short phalanx of finger	-	OMIM:615777
3551	IKBKB	HP:0009763	Limb pain	63/92	OMIM:131300
3551	IKBKB	HP:0003621	Juvenile onset	-	OMIM:131300
3551	IKBKB	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3551	IKBKB	HP:0009098	Chronic oral candidiasis	4/4	OMIM:615592
3551	IKBKB	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3551	IKBKB	HP:6001056	Out-toeing	-	OMIM:131300
3551	IKBKB	HP:0000651	Diplopia	-	OMIM:131300
3551	IKBKB	HP:0001956	Truncal obesity	2/7	OMIM:615777
3551	IKBKB	HP:0001903	Anemia	HP:0040283	OMIM:131300
3551	IKBKB	HP:0010049	Short metacarpal	-	OMIM:615777
3551	IKBKB	HP:0000678	Dental crowding	-	OMIM:615777
3551	IKBKB	HP:0000670	Carious teeth	-	OMIM:131300
3551	IKBKB	HP:0011304	Broad thumb	2/7	OMIM:615777
3551	IKBKB	HP:0000668	Hypodontia	-	OMIM:615777
3551	IKBKB	HP:0000664	Synophrys	-	OMIM:615777
3551	IKBKB	HP:0004313	Decreased circulating immunoglobulin concentration	4/4	OMIM:615592
3551	IKBKB	HP:0004396	Poor appetite	-	OMIM:131300
3551	IKBKB	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3551	IKBKB	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3551	IKBKB	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3551	IKBKB	HP:0003026	Short long bone	7/7	OMIM:615777
3551	IKBKB	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3551	IKBKB	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3551	IKBKB	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3551	IKBKB	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3551	IKBKB	HP:0000750	Delayed speech and language development	-	OMIM:615777
3551	IKBKB	HP:0011463	Childhood onset	-	OMIM:618204
3551	IKBKB	HP:0011461	Fetal onset	7/7	OMIM:615777
3551	IKBKB	HP:0000774	Narrow chest	2/7	OMIM:615777
3551	IKBKB	HP:0004432	Agammaglobulinemia	3/4	OMIM:615592
3551	IKBKB	HP:0000926	Platyspondyly	1/7	OMIM:615777
3551	IKBKB	HP:0003180	Flat acetabular roof	-	OMIM:615777
3551	IKBKB	HP:0004482	Relative macrocephaly	-	OMIM:615777
3551	IKBKB	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3551	IKBKB	HP:0000823	Delayed puberty	-	OMIM:131300
3551	IKBKB	HP:0000894	Short clavicles	-	OMIM:615777
3551	IKBKB	HP:0040218	Reduced total natural killer cell count	3/4	OMIM:615592
3551	IKBKB	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3551	IKBKB	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3551	IKBKB	HP:0040154	Acne inversa	1/4	OMIM:618204
3551	IKBKB	HP:0000286	Epicanthus	1/7	OMIM:615777
3551	IKBKB	HP:0000280	Coarse facial features	2/7	OMIM:615777
3551	IKBKB	HP:0002827	Hip dislocation	3/7	OMIM:615777
3551	IKBKB	HP:0000252	Microcephaly	-	OMIM:615777
3551	IKBKB	HP:0002857	Genu valgum	-	OMIM:131300
3551	IKBKB	HP:0001522	Death in infancy	2/4	OMIM:615592
3551	IKBKB	HP:0001533	Slender build	-	OMIM:131300
3551	IKBKB	HP:0001508	Failure to thrive	3/4	OMIM:615592
3551	IKBKB	HP:0031381	Decreased mitogen-induced T-cell proliferation	2/4	OMIM:615592
3551	IKBKB	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3551	IKBKB	HP:0007807	Optic nerve compression	-	OMIM:131300
3551	IKBKB	HP:0012368	Flat face	7/7	OMIM:615777
3551	IKBKB	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3551	IKBKB	HP:0000365	Hearing impairment	10/67	OMIM:131300
3551	IKBKB	HP:0000343	Long philtrum	1/7	OMIM:615777
3551	IKBKB	HP:0011001	Increased bone mineral density	-	OMIM:131300
3551	IKBKB	HP:0012311	Increased total monocyte count	2/4	OMIM:615592
3551	IKBKB	HP:0000311	Round face	2/7	OMIM:615777
3551	IKBKB	HP:0002970	Genu varum	-	OMIM:615777
3551	IKBKB	HP:0000303	Mandibular prognathia	-	OMIM:131300
3551	IKBKB	HP:0000403	Recurrent otitis media	3/4	OMIM:618204
3551	IKBKB	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3551	IKBKB	HP:0000470	Short neck	1/7	OMIM:615777
3551	IKBKB	HP:0011108	Recurrent sinusitis	2/4	OMIM:618204
3551	IKBKB	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3551	IKBKB	HP:0001763	Pes planus	1/7	OMIM:615777
3551	IKBKB	HP:0005415	Decreased CD8+ T cell proportion	2/2	OMIM:618204
3551	IKBKB	HP:0001840	Metatarsus adductus	-	OMIM:615777
3551	IKBKB	HP:0000520	Proptosis	2/4	OMIM:131300
3551	IKBKB	HP:0000520	Proptosis	7/7	OMIM:615777
3551	IKBKB	HP:0000592	Blue sclerae	2/7	OMIM:615777
3551	IKBKB	HP:0030374	Decreased proportion of memory B cells	2/2	OMIM:618204
3551	IKBKB	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3551	IKBKB	HP:0012514	Lower limb pain	4/4	OMIM:131300
3553	IL1B	HP:0012126	Stomach cancer	-	OMIM:613659
3553	IL1B	HP:0410067	Increased level of L-fucose in urine	-	OMIM:613659
3553	IL1B	HP:0001442	Typified by somatic mosaicism	-	OMIM:613659
3554	IL1R1	HP:0100847	Palmoplantar pustulosis	-	OMIM:259680
3554	IL1R1	HP:0000007	Autosomal recessive inheritance	-	OMIM:259680
3554	IL1R1	HP:0002653	Bone pain	6/6	OMIM:259680
3554	IL1R1	HP:0002754	Osteomyelitis	6/6	OMIM:259680
3554	IL1R1	HP:0003565	Elevated erythrocyte sedimentation rate	5/6	OMIM:259680
3554	IL1R1	HP:0001945	Fever	2/6	OMIM:259680
3557	IL1RN	HP:0025116	Fetal distress	5/9	OMIM:612852
3557	IL1RN	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3557	IL1RN	HP:0001293	Cranial nerve compression	-	OMIM:131300
3557	IL1RN	HP:0001270	Motor delay	2/2	OMIM:612852
3557	IL1RN	HP:0001252	Hypotonia	2/7	OMIM:615777
3557	IL1RN	HP:0001249	Intellectual disability	5/7	OMIM:615777
3557	IL1RN	HP:0001263	Global developmental delay	-	OMIM:615777
3557	IL1RN	HP:0002515	Waddling gait	54/102	OMIM:131300
3557	IL1RN	HP:0001386	Joint swelling	9/9	OMIM:612852
3557	IL1RN	HP:0001382	Joint hypermobility	-	OMIM:615777
3557	IL1RN	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3557	IL1RN	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3557	IL1RN	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3557	IL1RN	HP:0001324	Muscle weakness	40/96	OMIM:131300
3557	IL1RN	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3557	IL1RN	HP:0000007	Autosomal recessive inheritance	-	OMIM:612852
3557	IL1RN	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3557	IL1RN	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3557	IL1RN	HP:0002650	Scoliosis	12/14	OMIM:131300
3557	IL1RN	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3557	IL1RN	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3557	IL1RN	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3557	IL1RN	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3557	IL1RN	HP:0000175	Cleft palate	2/7	OMIM:615777
3557	IL1RN	HP:0012126	Stomach cancer	-	OMIM:613659
3557	IL1RN	HP:0002797	Osteolysis	11/12	OMIM:612852
3557	IL1RN	HP:0410067	Increased level of L-fucose in urine	-	OMIM:613659
3557	IL1RN	HP:0002754	Osteomyelitis	1/1	OMIM:612852
3557	IL1RN	HP:0001442	Typified by somatic mosaicism	-	OMIM:613659
3557	IL1RN	HP:0002098	Respiratory distress	-	OMIM:612852
3557	IL1RN	HP:0003388	Easy fatigability	36/76	OMIM:131300
3557	IL1RN	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3557	IL1RN	HP:0011897	Increased total neutrophil count	1/1	OMIM:612852
3557	IL1RN	HP:0002240	Hepatomegaly	-	OMIM:612852
3557	IL1RN	HP:0003565	Elevated erythrocyte sedimentation rate	3/3	OMIM:612852
3557	IL1RN	HP:0002206	Pulmonary fibrosis	1/9	OMIM:612852
3557	IL1RN	HP:0003510	Severe short stature	7/7	OMIM:615777
3557	IL1RN	HP:0002315	Headache	-	OMIM:131300
3557	IL1RN	HP:0004976	Knee dislocation	6/7	OMIM:615777
3557	IL1RN	HP:0025092	Epidermal acanthosis	3/3	OMIM:612852
3557	IL1RN	HP:0200039	Pustule	1/1	OMIM:612852
3557	IL1RN	HP:0009803	Short phalanx of finger	-	OMIM:615777
3557	IL1RN	HP:0009763	Limb pain	63/92	OMIM:131300
3557	IL1RN	HP:0003623	Neonatal onset	12/12	OMIM:612852
3557	IL1RN	HP:0003621	Juvenile onset	-	OMIM:131300
3557	IL1RN	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3557	IL1RN	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3557	IL1RN	HP:6001056	Out-toeing	-	OMIM:131300
3557	IL1RN	HP:0000651	Diplopia	-	OMIM:131300
3557	IL1RN	HP:0001956	Truncal obesity	2/7	OMIM:615777
3557	IL1RN	HP:0001903	Anemia	HP:0040283	OMIM:131300
3557	IL1RN	HP:0010049	Short metacarpal	-	OMIM:615777
3557	IL1RN	HP:0000678	Dental crowding	-	OMIM:615777
3557	IL1RN	HP:0000670	Carious teeth	-	OMIM:131300
3557	IL1RN	HP:0011304	Broad thumb	2/7	OMIM:615777
3557	IL1RN	HP:0000668	Hypodontia	-	OMIM:615777
3557	IL1RN	HP:0000664	Synophrys	-	OMIM:615777
3557	IL1RN	HP:0004396	Poor appetite	-	OMIM:131300
3557	IL1RN	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3557	IL1RN	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3557	IL1RN	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3557	IL1RN	HP:0003026	Short long bone	7/7	OMIM:615777
3557	IL1RN	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3557	IL1RN	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3557	IL1RN	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3557	IL1RN	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3557	IL1RN	HP:0000750	Delayed speech and language development	-	OMIM:615777
3557	IL1RN	HP:0011461	Fetal onset	7/7	OMIM:615777
3557	IL1RN	HP:0000774	Narrow chest	2/7	OMIM:615777
3557	IL1RN	HP:0000926	Platyspondyly	1/7	OMIM:615777
3557	IL1RN	HP:0003180	Flat acetabular roof	-	OMIM:615777
3557	IL1RN	HP:0000904	Flaring of rib cage	1/1	OMIM:612852
3557	IL1RN	HP:0004482	Relative macrocephaly	-	OMIM:615777
3557	IL1RN	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3557	IL1RN	HP:0000885	Broad ribs	9/9	OMIM:612852
3557	IL1RN	HP:0000823	Delayed puberty	-	OMIM:131300
3557	IL1RN	HP:0010280	Stomatitis	-	OMIM:612852
3557	IL1RN	HP:0000894	Short clavicles	-	OMIM:615777
3557	IL1RN	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3557	IL1RN	HP:0000988	Skin rash	1/1	OMIM:612852
3557	IL1RN	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3557	IL1RN	HP:0000962	Hyperkeratosis	2/2	OMIM:612852
3557	IL1RN	HP:0000938	Osteopenia	1/1	OMIM:612852
3557	IL1RN	HP:0040165	Periostitis	-	OMIM:612852
3557	IL1RN	HP:0000286	Epicanthus	1/7	OMIM:615777
3557	IL1RN	HP:0000280	Coarse facial features	2/7	OMIM:615777
3557	IL1RN	HP:0002829	Arthralgia	-	OMIM:612852
3557	IL1RN	HP:0002827	Hip dislocation	3/7	OMIM:615777
3557	IL1RN	HP:0000252	Microcephaly	-	OMIM:615777
3557	IL1RN	HP:0001531	Failure to thrive in infancy	2/2	OMIM:612852
3557	IL1RN	HP:0002857	Genu valgum	-	OMIM:131300
3557	IL1RN	HP:0001533	Slender build	-	OMIM:131300
3557	IL1RN	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3557	IL1RN	HP:0007807	Optic nerve compression	-	OMIM:131300
3557	IL1RN	HP:0012368	Flat face	7/7	OMIM:615777
3557	IL1RN	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3557	IL1RN	HP:0002949	Fused cervical vertebrae	4/8	OMIM:612852
3557	IL1RN	HP:0000365	Hearing impairment	10/67	OMIM:131300
3557	IL1RN	HP:0000343	Long philtrum	1/7	OMIM:615777
3557	IL1RN	HP:0011001	Increased bone mineral density	-	OMIM:131300
3557	IL1RN	HP:0000311	Round face	2/7	OMIM:615777
3557	IL1RN	HP:0025615	Abscess	2/2	OMIM:612852
3557	IL1RN	HP:0002970	Genu varum	-	OMIM:615777
3557	IL1RN	HP:0000303	Mandibular prognathia	-	OMIM:131300
3557	IL1RN	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3557	IL1RN	HP:0000470	Short neck	1/7	OMIM:615777
3557	IL1RN	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3557	IL1RN	HP:0001763	Pes planus	1/7	OMIM:615777
3557	IL1RN	HP:0001744	Splenomegaly	-	OMIM:612852
3557	IL1RN	HP:0001840	Metatarsus adductus	-	OMIM:615777
3557	IL1RN	HP:0000520	Proptosis	2/4	OMIM:131300
3557	IL1RN	HP:0000520	Proptosis	7/7	OMIM:615777
3557	IL1RN	HP:0000592	Blue sclerae	2/7	OMIM:615777
3557	IL1RN	HP:0011227	Elevated circulating C-reactive protein concentration	4/4	OMIM:612852
3557	IL1RN	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3557	IL1RN	HP:0012514	Lower limb pain	4/4	OMIM:131300
3559	IL2RA	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:85408
3559	IL2RA	HP:0003765	Psoriasiform dermatitis	1/1	OMIM:606367
3559	IL2RA	HP:0033582	Pulmonary interstitial lymphocyte infiltration	1/1	OMIM:606367
3559	IL2RA	HP:0010976	Decreased total B cell count	1/1	OMIM:606367
3559	IL2RA	HP:0001371	Flexion contracture	HP:0040283	ORPHA:85408
3559	IL2RA	HP:0001370	Rheumatoid arthritis	HP:0040283	ORPHA:85410
3559	IL2RA	HP:0001369	Arthritis	HP:0040281	ORPHA:85410
3559	IL2RA	HP:0001369	Arthritis	HP:0040282	ORPHA:85408
3559	IL2RA	HP:0001386	Joint swelling	HP:0040282	ORPHA:85408
3559	IL2RA	HP:0001387	Joint stiffness	HP:0040282	ORPHA:85408
3559	IL2RA	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:85410
3559	IL2RA	HP:0001384	Abnormal hip joint morphology	HP:0040283	ORPHA:85408
3559	IL2RA	HP:0008850	Severe postnatal growth retardation	HP:0040283	ORPHA:85410
3559	IL2RA	HP:0008843	Hip osteoarthritis	HP:0040283	ORPHA:85408
3559	IL2RA	HP:0000007	Autosomal recessive inheritance	-	OMIM:606367
3559	IL2RA	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:85410
3559	IL2RA	HP:0001433	Hepatosplenomegaly	HP:0040284	ORPHA:85408
3559	IL2RA	HP:0001433	Hepatosplenomegaly	1/1	OMIM:606367
3559	IL2RA	HP:0002718	Recurrent bacterial infections	1/1	OMIM:606367
3559	IL2RA	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:85408
3559	IL2RA	HP:0002716	Lymphadenopathy	1/1	OMIM:606367
3559	IL2RA	HP:0002720	Decreased circulating IgA concentration	1/1	OMIM:606367
3559	IL2RA	HP:0002721	Immunodeficiency	-	OMIM:606367
3559	IL2RA	HP:0002028	Chronic diarrhea	1/1	OMIM:606367
3559	IL2RA	HP:0040313	Oligoarthritis	HP:0040283	ORPHA:85408
3559	IL2RA	HP:0040313	Oligoarthritis	HP:0040281	ORPHA:85410
3559	IL2RA	HP:0003326	Myalgia	HP:0040283	ORPHA:85408
3559	IL2RA	HP:0003319	Abnormality of the cervical spine	HP:0040283	ORPHA:85408
3559	IL2RA	HP:0002113	Pulmonary infiltrates	1/1	OMIM:606367
3559	IL2RA	HP:0011911	Abnormal metacarpophalangeal joint morphology	HP:0040283	ORPHA:85408
3559	IL2RA	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:85410
3559	IL2RA	HP:0003493	Antinuclear antibody positivity	HP:0040283	ORPHA:85408
3559	IL2RA	HP:0033222	Inverted CD4:CD8 ratio	1/1	OMIM:606367
3559	IL2RA	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:85410
3559	IL2RA	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:85408
3559	IL2RA	HP:0002232	Patchy alopecia	1/1	OMIM:606367
3559	IL2RA	HP:0002205	Recurrent respiratory infections	11/11	OMIM:606367
3559	IL2RA	HP:0100769	Synovitis	HP:0040282	ORPHA:85408
3559	IL2RA	HP:0002289	Alopecia universalis	1/1	OMIM:606367
3559	IL2RA	HP:0001019	Erythroderma	1/1	OMIM:606367
3559	IL2RA	HP:0100651	Type I diabetes mellitus	1/1	OMIM:606367
3559	IL2RA	HP:0100646	Thyroiditis	1/1	OMIM:606367
3559	IL2RA	HP:0100658	Cellulitis	1/1	OMIM:606367
3559	IL2RA	HP:0001094	Iridocyclitis	HP:0040284	ORPHA:85408
3559	IL2RA	HP:0020113	Decreased proportion of regulatory T cells	1/1	OMIM:606367
3559	IL2RA	HP:0100686	Enthesitis	HP:0040282	ORPHA:85408
3559	IL2RA	HP:0010754	Abnormality of the temporomandibular joint	HP:0040283	ORPHA:85408
3559	IL2RA	HP:0032170	Severe varicella zoster infection	1/1	OMIM:606367
3559	IL2RA	HP:0009098	Chronic oral candidiasis	1/1	OMIM:606367
3559	IL2RA	HP:0001903	Anemia	HP:0040283	ORPHA:85408
3559	IL2RA	HP:0003028	Abnormality of the ankle	HP:0040282	ORPHA:85410
3559	IL2RA	HP:0003043	Abnormal shoulder morphology	HP:0040283	ORPHA:85408
3559	IL2RA	HP:0003019	Abnormality of the wrist	HP:0040282	ORPHA:85408
3559	IL2RA	HP:0011473	Villous atrophy	2/2	OMIM:606367
3559	IL2RA	HP:0004429	Recurrent viral infections	1/1	OMIM:606367
3559	IL2RA	HP:0000819	Diabetes mellitus	-	OMIM:601942
3559	IL2RA	HP:0000821	Hypothyroidism	1/1	OMIM:606367
3559	IL2RA	HP:0003212	Increased circulating IgE concentration	1/1	OMIM:606367
3559	IL2RA	HP:0030812	Enlarged tonsils	1/1	OMIM:606367
3559	IL2RA	HP:0000964	Eczematoid dermatitis	3/3	OMIM:606367
3559	IL2RA	HP:0040189	Scaling skin	1/1	OMIM:606367
3559	IL2RA	HP:0002829	Arthralgia	HP:0040282	ORPHA:85408
3559	IL2RA	HP:0005086	Knee osteoarthritis	HP:0040282	ORPHA:85408
3559	IL2RA	HP:0005086	Knee osteoarthritis	HP:0040282	ORPHA:85410
3559	IL2RA	HP:0001531	Failure to thrive in infancy	1/1	OMIM:606367
3559	IL2RA	HP:0001530	Mild postnatal growth retardation	HP:0040283	ORPHA:85408
3559	IL2RA	HP:0001508	Failure to thrive	HP:0040282	ORPHA:85410
3559	IL2RA	HP:0031382	Decreased anti-CD3/28-induced T-cell proliferation	1/1	OMIM:606367
3559	IL2RA	HP:0002848	Decreased specific anti-polysaccharide antibody level	1/1	OMIM:606367
3559	IL2RA	HP:0002841	Recurrent fungal infections	1/1	OMIM:606367
3559	IL2RA	HP:0007833	Anterior chamber synechiae	HP:0040283	ORPHA:85410
3559	IL2RA	HP:0005186	Synovial lining hyperplasia	HP:0040282	ORPHA:85408
3559	IL2RA	HP:0002960	Autoimmunity	HP:0040282	ORPHA:85410
3559	IL2RA	HP:0011134	Low-grade fever	HP:0040283	ORPHA:85408
3559	IL2RA	HP:0011117	Abnormal circulating interleukin concentration	HP:0040282	ORPHA:85410
3559	IL2RA	HP:0011120	Concave nasal ridge	1/1	OMIM:606367
3559	IL2RA	HP:0001785	Ankle swelling	HP:0040282	ORPHA:85408
3559	IL2RA	HP:0005403	Decreased total T cell count	1/1	OMIM:606367
3559	IL2RA	HP:0000518	Cataract	HP:0040284	ORPHA:85410
3559	IL2RA	HP:0001824	Weight loss	HP:0040283	ORPHA:85408
3559	IL2RA	HP:0001832	Abnormal metatarsal morphology	HP:0040283	ORPHA:85408
3559	IL2RA	HP:0000501	Glaucoma	HP:0040284	ORPHA:85410
3559	IL2RA	HP:0000585	Band keratopathy	HP:0040283	ORPHA:85410
3559	IL2RA	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040282	ORPHA:85410
3559	IL2RA	HP:0001890	Autoimmune hemolytic anemia	0/1	OMIM:606367
3559	IL2RA	HP:0011220	Prominent forehead	1/1	OMIM:606367
3559	IL2RA	HP:0000554	Uveitis	HP:0040282	ORPHA:85410
3559	IL2RA	HP:0000554	Uveitis	HP:0040283	ORPHA:85408
3559	IL2RA	HP:0000572	Visual loss	HP:0040283	ORPHA:85410
3559	IL2RA	HP:0001878	Hemolytic anemia	1/1	OMIM:606367
3560	IL2RB	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:85408
3560	IL2RB	HP:0032247	Persistent CMV viremia	2/2	OMIM:618495
3560	IL2RB	HP:0001371	Flexion contracture	HP:0040283	ORPHA:85408
3560	IL2RB	HP:0001370	Rheumatoid arthritis	HP:0040283	ORPHA:85410
3560	IL2RB	HP:0001369	Arthritis	HP:0040281	ORPHA:85410
3560	IL2RB	HP:0001369	Arthritis	HP:0040282	ORPHA:85408
3560	IL2RB	HP:0001386	Joint swelling	HP:0040282	ORPHA:85408
3560	IL2RB	HP:0001387	Joint stiffness	HP:0040282	ORPHA:85408
3560	IL2RB	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:85410
3560	IL2RB	HP:0001384	Abnormal hip joint morphology	HP:0040283	ORPHA:85408
3560	IL2RB	HP:0008850	Severe postnatal growth retardation	HP:0040283	ORPHA:85410
3560	IL2RB	HP:0008843	Hip osteoarthritis	HP:0040283	ORPHA:85408
3560	IL2RB	HP:0000010	Recurrent urinary tract infections	-	OMIM:618495
3560	IL2RB	HP:0000007	Autosomal recessive inheritance	-	OMIM:618495
3560	IL2RB	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:85410
3560	IL2RB	HP:0001433	Hepatosplenomegaly	HP:0040284	ORPHA:85408
3560	IL2RB	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:85408
3560	IL2RB	HP:0002716	Lymphadenopathy	-	OMIM:618495
3560	IL2RB	HP:0002721	Immunodeficiency	-	OMIM:618495
3560	IL2RB	HP:0040313	Oligoarthritis	HP:0040283	ORPHA:85408
3560	IL2RB	HP:0040313	Oligoarthritis	HP:0040281	ORPHA:85410
3560	IL2RB	HP:0003326	Myalgia	HP:0040283	ORPHA:85408
3560	IL2RB	HP:0002014	Diarrhea	2/2	OMIM:618495
3560	IL2RB	HP:0003319	Abnormality of the cervical spine	HP:0040283	ORPHA:85408
3560	IL2RB	HP:0011911	Abnormal metacarpophalangeal joint morphology	HP:0040283	ORPHA:85408
3560	IL2RB	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:85410
3560	IL2RB	HP:0003493	Antinuclear antibody positivity	HP:0040283	ORPHA:85408
3560	IL2RB	HP:0033222	Inverted CD4:CD8 ratio	1/2	OMIM:618495
3560	IL2RB	HP:0003593	Infantile onset	2/2	OMIM:618495
3560	IL2RB	HP:0002240	Hepatomegaly	-	OMIM:618495
3560	IL2RB	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:85410
3560	IL2RB	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:85408
3560	IL2RB	HP:0002205	Recurrent respiratory infections	-	OMIM:618495
3560	IL2RB	HP:0100769	Synovitis	HP:0040282	ORPHA:85408
3560	IL2RB	HP:0001094	Iridocyclitis	HP:0040284	ORPHA:85408
3560	IL2RB	HP:0100686	Enthesitis	HP:0040282	ORPHA:85408
3560	IL2RB	HP:0010754	Abnormality of the temporomandibular joint	HP:0040283	ORPHA:85408
3560	IL2RB	HP:0001903	Anemia	HP:0040283	ORPHA:85408
3560	IL2RB	HP:0003028	Abnormality of the ankle	HP:0040282	ORPHA:85410
3560	IL2RB	HP:0003043	Abnormal shoulder morphology	HP:0040283	ORPHA:85408
3560	IL2RB	HP:0003019	Abnormality of the wrist	HP:0040282	ORPHA:85408
3560	IL2RB	HP:0003237	Increased circulating IgG concentration	2/2	OMIM:618495
3560	IL2RB	HP:0008064	Ichthyosis	-	OMIM:618495
3560	IL2RB	HP:0002829	Arthralgia	HP:0040282	ORPHA:85408
3560	IL2RB	HP:0005086	Knee osteoarthritis	HP:0040282	ORPHA:85408
3560	IL2RB	HP:0005086	Knee osteoarthritis	HP:0040282	ORPHA:85410
3560	IL2RB	HP:0001558	Decreased fetal movement	HP:0040284	OMIM:618495
3560	IL2RB	HP:0001530	Mild postnatal growth retardation	HP:0040283	ORPHA:85408
3560	IL2RB	HP:0001508	Failure to thrive	HP:0040282	ORPHA:85410
3560	IL2RB	HP:0001508	Failure to thrive	2/2	OMIM:618495
3560	IL2RB	HP:0007833	Anterior chamber synechiae	HP:0040283	ORPHA:85410
3560	IL2RB	HP:0006527	Lymphocytic interstitial pneumonia	2/2	OMIM:618495
3560	IL2RB	HP:0005186	Synovial lining hyperplasia	HP:0040282	ORPHA:85408
3560	IL2RB	HP:0002960	Autoimmunity	HP:0040282	ORPHA:85410
3560	IL2RB	HP:0002960	Autoimmunity	-	OMIM:618495
3560	IL2RB	HP:0000403	Recurrent otitis media	-	OMIM:618495
3560	IL2RB	HP:0011134	Low-grade fever	HP:0040283	ORPHA:85408
3560	IL2RB	HP:0011117	Abnormal circulating interleukin concentration	HP:0040282	ORPHA:85410
3560	IL2RB	HP:0001785	Ankle swelling	HP:0040282	ORPHA:85408
3560	IL2RB	HP:0001744	Splenomegaly	-	OMIM:618495
3560	IL2RB	HP:0000518	Cataract	HP:0040284	ORPHA:85410
3560	IL2RB	HP:0001824	Weight loss	HP:0040283	ORPHA:85408
3560	IL2RB	HP:0001832	Abnormal metatarsal morphology	HP:0040283	ORPHA:85408
3560	IL2RB	HP:0000501	Glaucoma	HP:0040284	ORPHA:85410
3560	IL2RB	HP:0000585	Band keratopathy	HP:0040283	ORPHA:85410
3560	IL2RB	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040282	ORPHA:85410
3560	IL2RB	HP:0001890	Autoimmune hemolytic anemia	1/2	OMIM:618495
3560	IL2RB	HP:0000554	Uveitis	HP:0040282	ORPHA:85410
3560	IL2RB	HP:0000554	Uveitis	HP:0040283	ORPHA:85408
3560	IL2RB	HP:0000572	Visual loss	HP:0040283	ORPHA:85410
3561	IL2RG	HP:0007274	Recurrent bacterial meningitis	-	OMIM:300400
3561	IL2RG	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3561	IL2RG	HP:0032218	Decreased proportion of CD4-positive T cells	HP:0040281	ORPHA:276
3561	IL2RG	HP:0032218	Decreased proportion of CD4-positive T cells	-	OMIM:312863
3561	IL2RG	HP:0001293	Cranial nerve compression	-	OMIM:131300
3561	IL2RG	HP:0100806	Sepsis	HP:0040282	ORPHA:276
3561	IL2RG	HP:0100806	Sepsis	HP:0040283	ORPHA:39041
3561	IL2RG	HP:0001252	Hypotonia	2/7	OMIM:615777
3561	IL2RG	HP:0001249	Intellectual disability	5/7	OMIM:615777
3561	IL2RG	HP:0001263	Global developmental delay	-	OMIM:615777
3561	IL2RG	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:39041
3561	IL2RG	HP:0010975	Abnormal B cell count	0/1	OMIM:312863
3561	IL2RG	HP:0002515	Waddling gait	54/102	OMIM:131300
3561	IL2RG	HP:0001382	Joint hypermobility	-	OMIM:615777
3561	IL2RG	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3561	IL2RG	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3561	IL2RG	HP:0007549	Desquamation of skin soon after birth	HP:0040282	ORPHA:39041
3561	IL2RG	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3561	IL2RG	HP:0001324	Muscle weakness	40/96	OMIM:131300
3561	IL2RG	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3561	IL2RG	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3561	IL2RG	HP:0002665	Lymphoma	HP:0040284	ORPHA:276
3561	IL2RG	HP:0002665	Lymphoma	HP:0040283	ORPHA:39041
3561	IL2RG	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3561	IL2RG	HP:0002650	Scoliosis	12/14	OMIM:131300
3561	IL2RG	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3561	IL2RG	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3561	IL2RG	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3561	IL2RG	HP:0012177	Abnormal natural killer cell physiology	-	OMIM:300400
3561	IL2RG	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3561	IL2RG	HP:0000175	Cleft palate	2/7	OMIM:615777
3561	IL2RG	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:39041
3561	IL2RG	HP:0002732	Lymph node hypoplasia	HP:0040283	ORPHA:276
3561	IL2RG	HP:0001419	X-linked recessive inheritance	-	OMIM:312863
3561	IL2RG	HP:0001419	X-linked recessive inheritance	-	OMIM:300400
3561	IL2RG	HP:0002718	Recurrent bacterial infections	HP:0040282	ORPHA:276
3561	IL2RG	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:39041
3561	IL2RG	HP:0002728	Chronic mucocutaneous candidiasis	HP:0040283	ORPHA:276
3561	IL2RG	HP:0002720	Decreased circulating IgA concentration	HP:0040282	ORPHA:276
3561	IL2RG	HP:0002720	Decreased circulating IgA concentration	-	OMIM:300400
3561	IL2RG	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	-	OMIM:300400
3561	IL2RG	HP:0002028	Chronic diarrhea	-	OMIM:300400
3561	IL2RG	HP:0002028	Chronic diarrhea	HP:0040281	ORPHA:39041
3561	IL2RG	HP:0002014	Diarrhea	HP:0040282	ORPHA:276
3561	IL2RG	HP:0002090	Pneumonia	HP:0040281	ORPHA:276
3561	IL2RG	HP:0002090	Pneumonia	-	OMIM:312863
3561	IL2RG	HP:0002090	Pneumonia	-	OMIM:300400
3561	IL2RG	HP:0002090	Pneumonia	HP:0040282	ORPHA:39041
3561	IL2RG	HP:0003388	Easy fatigability	36/76	OMIM:131300
3561	IL2RG	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3561	IL2RG	HP:0011839	Abnormal T cell count	0/1	OMIM:312863
3561	IL2RG	HP:0003593	Infantile onset	1/1	OMIM:312863
3561	IL2RG	HP:0003593	Infantile onset	2/3	OMIM:300400
3561	IL2RG	HP:0002240	Hepatomegaly	HP:0040284	ORPHA:276
3561	IL2RG	HP:0002240	Hepatomegaly	-	OMIM:300400
3561	IL2RG	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:39041
3561	IL2RG	HP:0010701	Abnormal circulating immunoglobulin concentration	HP:0040281	ORPHA:276
3561	IL2RG	HP:0003510	Severe short stature	7/7	OMIM:615777
3561	IL2RG	HP:0001019	Erythroderma	HP:0040281	ORPHA:39041
3561	IL2RG	HP:0002315	Headache	-	OMIM:131300
3561	IL2RG	HP:0004976	Knee dislocation	6/7	OMIM:615777
3561	IL2RG	HP:0100646	Thyroiditis	HP:0040283	ORPHA:39041
3561	IL2RG	HP:0001072	Thickened skin	HP:0040282	ORPHA:39041
3561	IL2RG	HP:0009803	Short phalanx of finger	-	OMIM:615777
3561	IL2RG	HP:0020102	Pneumocystis jirovecii pneumonia	1/1	OMIM:312863
3561	IL2RG	HP:0009763	Limb pain	63/92	OMIM:131300
3561	IL2RG	HP:0003623	Neonatal onset	1/3	OMIM:300400
3561	IL2RG	HP:0003621	Juvenile onset	-	OMIM:131300
3561	IL2RG	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3561	IL2RG	HP:0005523	Lymphoproliferative disorder	HP:0040284	ORPHA:276
3561	IL2RG	HP:0009098	Chronic oral candidiasis	HP:0040283	ORPHA:276
3561	IL2RG	HP:0009098	Chronic oral candidiasis	1/3	OMIM:300400
3561	IL2RG	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3561	IL2RG	HP:6001056	Out-toeing	-	OMIM:131300
3561	IL2RG	HP:0000651	Diplopia	-	OMIM:131300
3561	IL2RG	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:39041
3561	IL2RG	HP:0001945	Fever	HP:0040282	ORPHA:39041
3561	IL2RG	HP:0001954	Recurrent fever	HP:0040281	ORPHA:276
3561	IL2RG	HP:0001956	Truncal obesity	2/7	OMIM:615777
3561	IL2RG	HP:0001903	Anemia	HP:0040283	ORPHA:39041
3561	IL2RG	HP:0001903	Anemia	HP:0040283	OMIM:131300
3561	IL2RG	HP:0010049	Short metacarpal	-	OMIM:615777
3561	IL2RG	HP:0011370	Recurrent cutaneous fungal infections	HP:0040283	ORPHA:276
3561	IL2RG	HP:0000678	Dental crowding	-	OMIM:615777
3561	IL2RG	HP:0000670	Carious teeth	-	OMIM:131300
3561	IL2RG	HP:0011304	Broad thumb	2/7	OMIM:615777
3561	IL2RG	HP:0000668	Hypodontia	-	OMIM:615777
3561	IL2RG	HP:0000664	Synophrys	-	OMIM:615777
3561	IL2RG	HP:0004315	Decreased circulating IgG concentration	HP:0040282	ORPHA:276
3561	IL2RG	HP:0004315	Decreased circulating IgG concentration	0/1	OMIM:312863
3561	IL2RG	HP:0004315	Decreased circulating IgG concentration	-	OMIM:300400
3561	IL2RG	HP:0004332	Abnormal lymphocyte morphology	HP:0040281	ORPHA:39041
3561	IL2RG	HP:0004396	Poor appetite	-	OMIM:131300
3561	IL2RG	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3561	IL2RG	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3561	IL2RG	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3561	IL2RG	HP:0003026	Short long bone	7/7	OMIM:615777
3561	IL2RG	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3561	IL2RG	HP:0012735	Cough	HP:0040282	ORPHA:276
3561	IL2RG	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3561	IL2RG	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3561	IL2RG	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3561	IL2RG	HP:0000750	Delayed speech and language development	-	OMIM:615777
3561	IL2RG	HP:0011461	Fetal onset	7/7	OMIM:615777
3561	IL2RG	HP:0000778	Hypoplasia of the thymus	-	OMIM:300400
3561	IL2RG	HP:0000774	Narrow chest	2/7	OMIM:615777
3561	IL2RG	HP:0004432	Agammaglobulinemia	-	OMIM:300400
3561	IL2RG	HP:0004430	Severe combined immunodeficiency	-	OMIM:300400
3561	IL2RG	HP:0004430	Severe combined immunodeficiency	HP:0040281	ORPHA:39041
3561	IL2RG	HP:0000926	Platyspondyly	1/7	OMIM:615777
3561	IL2RG	HP:0003180	Flat acetabular roof	-	OMIM:615777
3561	IL2RG	HP:0004482	Relative macrocephaly	-	OMIM:615777
3561	IL2RG	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3561	IL2RG	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:39041
3561	IL2RG	HP:0000823	Delayed puberty	-	OMIM:131300
3561	IL2RG	HP:0000894	Short clavicles	-	OMIM:615777
3561	IL2RG	HP:0040089	Abnormal total natural killer cell count	0/1	OMIM:312863
3561	IL2RG	HP:0003237	Increased circulating IgG concentration	HP:0040284	ORPHA:276
3561	IL2RG	HP:0040218	Reduced total natural killer cell count	HP:0040281	ORPHA:276
3561	IL2RG	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3561	IL2RG	HP:0030813	Absent tonsils	HP:0040283	ORPHA:276
3561	IL2RG	HP:0045080	Decreased CD3+ T cell proportion	HP:0040282	ORPHA:276
3561	IL2RG	HP:0000989	Pruritus	HP:0040282	ORPHA:39041
3561	IL2RG	HP:0000988	Skin rash	HP:0040282	ORPHA:276
3561	IL2RG	HP:0000988	Skin rash	-	OMIM:300400
3561	IL2RG	HP:0000958	Dry skin	HP:0040282	ORPHA:39041
3561	IL2RG	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3561	IL2RG	HP:0000952	Jaundice	HP:0040284	ORPHA:276
3561	IL2RG	HP:0000969	Edema	HP:0040282	ORPHA:39041
3561	IL2RG	HP:0000944	Abnormal metaphysis morphology	HP:0040283	ORPHA:39041
3561	IL2RG	HP:0000286	Epicanthus	1/7	OMIM:615777
3561	IL2RG	HP:0000280	Coarse facial features	2/7	OMIM:615777
3561	IL2RG	HP:0001596	Alopecia	HP:0040281	ORPHA:39041
3561	IL2RG	HP:0031397	Decreased proportion of naive T cells	HP:0040281	ORPHA:276
3561	IL2RG	HP:0002827	Hip dislocation	3/7	OMIM:615777
3561	IL2RG	HP:0000252	Microcephaly	-	OMIM:615777
3561	IL2RG	HP:0000246	Sinusitis	-	OMIM:312863
3561	IL2RG	HP:0002857	Genu valgum	-	OMIM:131300
3561	IL2RG	HP:0001533	Slender build	-	OMIM:131300
3561	IL2RG	HP:0001508	Failure to thrive	HP:0040283	ORPHA:276
3561	IL2RG	HP:0001508	Failure to thrive	-	OMIM:300400
3561	IL2RG	HP:0001508	Failure to thrive	HP:0040281	ORPHA:39041
3561	IL2RG	HP:0002837	Recurrent bronchitis	-	OMIM:312863
3561	IL2RG	HP:0002850	Decreased circulating total IgM	-	OMIM:300400
3561	IL2RG	HP:0031381	Decreased mitogen-induced T-cell proliferation	HP:0040281	ORPHA:276
3561	IL2RG	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3561	IL2RG	HP:0002841	Recurrent fungal infections	-	OMIM:300400
3561	IL2RG	HP:0007807	Optic nerve compression	-	OMIM:131300
3561	IL2RG	HP:0012368	Flat face	7/7	OMIM:615777
3561	IL2RG	HP:0000388	Otitis media	-	OMIM:312863
3561	IL2RG	HP:0006532	Recurrent pneumonia	1/3	OMIM:300400
3561	IL2RG	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3561	IL2RG	HP:0000365	Hearing impairment	10/67	OMIM:131300
3561	IL2RG	HP:0000343	Long philtrum	1/7	OMIM:615777
3561	IL2RG	HP:0011001	Increased bone mineral density	-	OMIM:131300
3561	IL2RG	HP:0000311	Round face	2/7	OMIM:615777
3561	IL2RG	HP:0002960	Autoimmunity	HP:0040283	ORPHA:39041
3561	IL2RG	HP:0002970	Genu varum	-	OMIM:615777
3561	IL2RG	HP:0000303	Mandibular prognathia	-	OMIM:131300
3561	IL2RG	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:276
3561	IL2RG	HP:0005387	Combined immunodeficiency	1/1	OMIM:312863
3561	IL2RG	HP:0005353	Recurrent herpes	HP:0040283	ORPHA:276
3561	IL2RG	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3561	IL2RG	HP:0031545	Abnormally low T cell receptor excision circle level	HP:0040282	ORPHA:276
3561	IL2RG	HP:0000470	Short neck	1/7	OMIM:615777
3561	IL2RG	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3561	IL2RG	HP:0001763	Pes planus	1/7	OMIM:615777
3561	IL2RG	HP:0001744	Splenomegaly	HP:0040282	ORPHA:39041
3561	IL2RG	HP:0005406	Recurrent bacterial skin infections	HP:0040283	ORPHA:276
3561	IL2RG	HP:0005415	Decreased CD8+ T cell proportion	-	OMIM:312863
3561	IL2RG	HP:0005403	Decreased total T cell count	-	OMIM:300400
3561	IL2RG	HP:0005479	Decreased circulating IgE concentration	-	OMIM:300400
3561	IL2RG	HP:0005428	Severe recurrent varicella	HP:0040283	ORPHA:276
3561	IL2RG	HP:0001840	Metatarsus adductus	-	OMIM:615777
3561	IL2RG	HP:0000520	Proptosis	2/4	OMIM:131300
3561	IL2RG	HP:0000520	Proptosis	7/7	OMIM:615777
3561	IL2RG	HP:0001831	Short toe	HP:0040283	ORPHA:39041
3561	IL2RG	HP:0005390	Recurrent opportunistic infections	HP:0040282	ORPHA:276
3561	IL2RG	HP:0000592	Blue sclerae	2/7	OMIM:615777
3561	IL2RG	HP:0001888	Decreased total lymphocyte count	HP:0040281	ORPHA:276
3561	IL2RG	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3561	IL2RG	HP:0001880	Increased total eosinophil count	HP:0040282	ORPHA:39041
3561	IL2RG	HP:0012514	Lower limb pain	4/4	OMIM:131300
3569	IL6	HP:0002408	Cerebral arteriovenous malformation	-	OMIM:108010
3569	IL6	HP:0100819	Intestinal fistula	-	OMIM:266600
3569	IL6	HP:0002591	Polyphagia	-	OMIM:222100
3569	IL6	HP:0010982	Polygenic inheritance	-	OMIM:266600
3569	IL6	HP:0000099	Glomerulonephritis	HP:0040283	ORPHA:85414
3569	IL6	HP:0001369	Arthritis	HP:0040281	ORPHA:85414
3569	IL6	HP:0001386	Joint swelling	HP:0040281	ORPHA:85414
3569	IL6	HP:0002664	Neoplasm	-	OMIM:148000
3569	IL6	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
3569	IL6	HP:0000006	Autosomal dominant inheritance	-	OMIM:148000
3569	IL6	HP:0012122	Anterior uveitis	HP:0040283	ORPHA:85414
3569	IL6	HP:0410050	Decreased level of 1,5 anhydroglucitol in serum	30/30	OMIM:222100
3569	IL6	HP:0001442	Typified by somatic mosaicism	-	OMIM:108010
3569	IL6	HP:0000103	Polyuria	-	OMIM:222100
3569	IL6	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:85414
3569	IL6	HP:0002037	Inflammation of the large intestine	-	OMIM:266600
3569	IL6	HP:0002027	Abdominal pain	HP:0040283	ORPHA:85414
3569	IL6	HP:0002027	Abdominal pain	-	OMIM:266600
3569	IL6	HP:0002014	Diarrhea	-	OMIM:266600
3569	IL6	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
3569	IL6	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:85414
3569	IL6	HP:0003584	Late onset	-	OMIM:125853
3569	IL6	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040281	ORPHA:85414
3569	IL6	HP:0004890	Elevated pulmonary artery pressure	HP:0040283	ORPHA:85414
3569	IL6	HP:0002202	Pleural effusion	HP:0040283	ORPHA:85414
3569	IL6	HP:0100726	Kaposi's sarcoma	-	OMIM:148000
3569	IL6	HP:0001034	Hypermelanotic macule	-	OMIM:148000
3569	IL6	HP:0032154	Aphthous ulcer	-	OMIM:266600
3569	IL6	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:85414
3569	IL6	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
3569	IL6	HP:0001945	Fever	HP:0040281	ORPHA:85414
3569	IL6	HP:0001959	Polydipsia	-	OMIM:222100
3569	IL6	HP:0001993	Ketoacidosis	-	OMIM:222100
3569	IL6	HP:0003074	Hyperglycemia	-	OMIM:222100
3569	IL6	HP:0005681	Juvenile rheumatoid arthritis	HP:0040281	ORPHA:85414
3569	IL6	HP:0000855	Insulin resistance	-	OMIM:125853
3569	IL6	HP:0000819	Diabetes mellitus	-	OMIM:222100
3569	IL6	HP:0003281	Increased circulating ferritin concentration	HP:0040283	ORPHA:85414
3569	IL6	HP:0100280	Crohn's disease	-	OMIM:266600
3569	IL6	HP:0100279	Ulcerative colitis	-	OMIM:266600
3569	IL6	HP:0000988	Skin rash	HP:0040281	ORPHA:85414
3569	IL6	HP:0000969	Edema	-	OMIM:148000
3569	IL6	HP:0000938	Osteopenia	HP:0040283	ORPHA:85414
3569	IL6	HP:0002829	Arthralgia	HP:0040281	ORPHA:85414
3569	IL6	HP:0001510	Growth delay	HP:0040283	ORPHA:85414
3569	IL6	HP:0001510	Growth delay	-	OMIM:266600
3569	IL6	HP:0005214	Intestinal obstruction	-	OMIM:266600
3569	IL6	HP:0002960	Autoimmunity	HP:0040281	ORPHA:85414
3569	IL6	HP:0002960	Autoimmunity	-	OMIM:222100
3569	IL6	HP:0001701	Pericarditis	HP:0040283	ORPHA:85414
3569	IL6	HP:0011107	Recurrent aphthous stomatitis	-	OMIM:266600
3569	IL6	HP:0001744	Splenomegaly	HP:0040283	ORPHA:85414
3569	IL6	HP:0001824	Weight loss	-	OMIM:266600
3569	IL6	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040281	ORPHA:85414
3570	IL6R	HP:0000007	Autosomal recessive inheritance	-	OMIM:618944
3570	IL6R	HP:0032437	Reduced circulating C-reactive protein concecntration	-	OMIM:618944
3570	IL6R	HP:0031292	Cutaneous abscess	-	OMIM:618944
3570	IL6R	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:618944
3570	IL6R	HP:0033104	Inappropriate absence of fever	-	OMIM:618944
3570	IL6R	HP:0003593	Infantile onset	-	OMIM:618944
3570	IL6R	HP:0001047	Atopic dermatitis	2/2	OMIM:618944
3570	IL6R	HP:0100658	Cellulitis	1/2	OMIM:618944
3570	IL6R	HP:0004315	Decreased circulating IgG concentration	2/2	OMIM:618944
3570	IL6R	HP:0030783	Increased circulating interleukin 6 concentration	1/1	OMIM:618944
3570	IL6R	HP:0003212	Increased circulating IgE concentration	2/2	OMIM:618944
3570	IL6R	HP:0001581	Recurrent skin infections	-	OMIM:618944
3570	IL6R	HP:0002850	Decreased circulating total IgM	2/2	OMIM:618944
3570	IL6R	HP:0000403	Recurrent otitis media	-	OMIM:618944
3570	IL6R	HP:0030388	Decreased class-switched memory B cell proportion	-	OMIM:618944
3572	IL6ST	HP:0010885	Avascular necrosis	1/1	OMIM:619750
3572	IL6ST	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3572	IL6ST	HP:0001293	Cranial nerve compression	-	OMIM:131300
3572	IL6ST	HP:0001270	Motor delay	1/3	OMIM:619751
3572	IL6ST	HP:0001252	Hypotonia	2/7	OMIM:615777
3572	IL6ST	HP:0001249	Intellectual disability	5/7	OMIM:615777
3572	IL6ST	HP:0001263	Global developmental delay	-	OMIM:615777
3572	IL6ST	HP:0001217	Clubbing	1/1	OMIM:618523
3572	IL6ST	HP:0002515	Waddling gait	54/102	OMIM:131300
3572	IL6ST	HP:0003826	Stillbirth	1/6	OMIM:619751
3572	IL6ST	HP:0003811	Neonatal death	3/6	OMIM:619751
3572	IL6ST	HP:0001382	Joint hypermobility	7/11	OMIM:619752
3572	IL6ST	HP:0001382	Joint hypermobility	-	OMIM:615777
3572	IL6ST	HP:0001363	Craniosynostosis	1/1	OMIM:618523
3572	IL6ST	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3572	IL6ST	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3572	IL6ST	HP:0002659	Increased susceptibility to fractures	4/11	OMIM:619752
3572	IL6ST	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3572	IL6ST	HP:0001324	Muscle weakness	40/96	OMIM:131300
3572	IL6ST	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3572	IL6ST	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3572	IL6ST	HP:0000007	Autosomal recessive inheritance	-	OMIM:618523
3572	IL6ST	HP:0000007	Autosomal recessive inheritance	-	OMIM:619751
3572	IL6ST	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3572	IL6ST	HP:0000006	Autosomal dominant inheritance	-	OMIM:619752
3572	IL6ST	HP:0000006	Autosomal dominant inheritance	-	OMIM:619750
3572	IL6ST	HP:0002650	Scoliosis	1/1	OMIM:618523
3572	IL6ST	HP:0002650	Scoliosis	1/6	OMIM:619751
3572	IL6ST	HP:0002650	Scoliosis	6/11	OMIM:619752
3572	IL6ST	HP:0002650	Scoliosis	1/1	OMIM:619750
3572	IL6ST	HP:0002650	Scoliosis	12/14	OMIM:131300
3572	IL6ST	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3572	IL6ST	HP:0032434	Delayed umbilical cord separation	1/12	OMIM:619752
3572	IL6ST	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3572	IL6ST	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3572	IL6ST	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3572	IL6ST	HP:0000158	Macroglossia	1/1	OMIM:618523
3572	IL6ST	HP:0000175	Cleft palate	2/7	OMIM:615777
3572	IL6ST	HP:0006335	Persistence of primary teeth	9/11	OMIM:619752
3572	IL6ST	HP:0500093	Food allergy	1/11	OMIM:619752
3572	IL6ST	HP:0500093	Food allergy	1/1	OMIM:618523
3572	IL6ST	HP:0031292	Cutaneous abscess	4/11	OMIM:619752
3572	IL6ST	HP:0002780	Bronchomalacia	1/12	OMIM:619752
3572	IL6ST	HP:0025419	Pulmonary pneumatocele	6/11	OMIM:619752
3572	IL6ST	HP:0002788	Recurrent upper respiratory tract infections	6/11	OMIM:619752
3572	IL6ST	HP:0001442	Typified by somatic mosaicism	-	OMIM:619750
3572	IL6ST	HP:0001433	Hepatosplenomegaly	1/1	OMIM:619750
3572	IL6ST	HP:0002716	Lymphadenopathy	1/1	OMIM:619750
3572	IL6ST	HP:0002728	Chronic mucocutaneous candidiasis	1/11	OMIM:619752
3572	IL6ST	HP:0002720	Decreased circulating IgA concentration	4/12	OMIM:619752
3572	IL6ST	HP:0002028	Chronic diarrhea	1/1	OMIM:618523
3572	IL6ST	HP:0002002	Deep philtrum	1/1	OMIM:619750
3572	IL6ST	HP:0002015	Dysphagia	1/3	OMIM:619751
3572	IL6ST	HP:0002098	Respiratory distress	2/3	OMIM:619751
3572	IL6ST	HP:0002099	Asthma	8/12	OMIM:619752
3572	IL6ST	HP:0002099	Asthma	1/1	OMIM:619750
3572	IL6ST	HP:0002092	Pulmonary arterial hypertension	1/3	OMIM:619751
3572	IL6ST	HP:0003388	Easy fatigability	36/76	OMIM:131300
3572	IL6ST	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3572	IL6ST	HP:0009473	Joint contracture of the hand	1/1	OMIM:618523
3572	IL6ST	HP:0002110	Bronchiectasis	1/1	OMIM:618523
3572	IL6ST	HP:0002110	Bronchiectasis	6/10	OMIM:619752
3572	IL6ST	HP:0003593	Infantile onset	2/11	OMIM:619752
3572	IL6ST	HP:0003593	Infantile onset	1/1	OMIM:619750
3572	IL6ST	HP:0002205	Recurrent respiratory infections	1/1	OMIM:618523
3572	IL6ST	HP:0002280	Enlarged cisterna magna	1/6	OMIM:619751
3572	IL6ST	HP:0033332	Elevated circulating amyloid A concentration	1/1	OMIM:619750
3572	IL6ST	HP:0010614	Fibroma	1/1	OMIM:619750
3572	IL6ST	HP:0003510	Severe short stature	7/7	OMIM:615777
3572	IL6ST	HP:0001047	Atopic dermatitis	8/11	OMIM:619752
3572	IL6ST	HP:0002315	Headache	-	OMIM:131300
3572	IL6ST	HP:0004976	Knee dislocation	6/7	OMIM:615777
3572	IL6ST	HP:0009803	Short phalanx of finger	-	OMIM:615777
3572	IL6ST	HP:0009763	Limb pain	63/92	OMIM:131300
3572	IL6ST	HP:0003621	Juvenile onset	1/11	OMIM:619752
3572	IL6ST	HP:0003621	Juvenile onset	-	OMIM:131300
3572	IL6ST	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3572	IL6ST	HP:0005521	Disseminated intravascular coagulation	1/6	OMIM:619751
3572	IL6ST	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3572	IL6ST	HP:6001056	Out-toeing	-	OMIM:131300
3572	IL6ST	HP:0000651	Diplopia	-	OMIM:131300
3572	IL6ST	HP:0001956	Truncal obesity	2/7	OMIM:615777
3572	IL6ST	HP:0001935	Microcytic anemia	1/1	OMIM:619750
3572	IL6ST	HP:0001903	Anemia	HP:0040283	OMIM:131300
3572	IL6ST	HP:0010049	Short metacarpal	-	OMIM:615777
3572	IL6ST	HP:0000678	Dental crowding	1/1	OMIM:618523
3572	IL6ST	HP:0000678	Dental crowding	-	OMIM:615777
3572	IL6ST	HP:0000670	Carious teeth	-	OMIM:131300
3572	IL6ST	HP:0011304	Broad thumb	2/7	OMIM:615777
3572	IL6ST	HP:0000668	Hypodontia	-	OMIM:615777
3572	IL6ST	HP:0000664	Synophrys	-	OMIM:615777
3572	IL6ST	HP:0004322	Short stature	1/1	OMIM:619750
3572	IL6ST	HP:0004315	Decreased circulating IgG concentration	2/12	OMIM:619752
3572	IL6ST	HP:0004313	Decreased circulating immunoglobulin concentration	1/1	OMIM:619750
3572	IL6ST	HP:0004396	Poor appetite	-	OMIM:131300
3572	IL6ST	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3572	IL6ST	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3572	IL6ST	HP:0003040	Arthropathy	1/1	OMIM:618523
3572	IL6ST	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3572	IL6ST	HP:0003026	Short long bone	7/7	OMIM:615777
3572	IL6ST	HP:0003026	Short long bone	1/6	OMIM:619751
3572	IL6ST	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3572	IL6ST	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3572	IL6ST	HP:0000768	Pectus carinatum	1/1	OMIM:619750
3572	IL6ST	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3572	IL6ST	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3572	IL6ST	HP:0000750	Delayed speech and language development	-	OMIM:615777
3572	IL6ST	HP:0011463	Childhood onset	8/11	OMIM:619752
3572	IL6ST	HP:0011461	Fetal onset	7/7	OMIM:615777
3572	IL6ST	HP:0011461	Fetal onset	6/6	OMIM:619751
3572	IL6ST	HP:0000774	Narrow chest	2/7	OMIM:615777
3572	IL6ST	HP:0012758	Neurodevelopmental delay	1/1	OMIM:618523
3572	IL6ST	HP:0011421	Death in adolescence	1/6	OMIM:619751
3572	IL6ST	HP:0030799	Scaphocephaly	1/1	OMIM:618523
3572	IL6ST	HP:0000926	Platyspondyly	1/7	OMIM:615777
3572	IL6ST	HP:0003180	Flat acetabular roof	-	OMIM:615777
3572	IL6ST	HP:0004482	Relative macrocephaly	-	OMIM:615777
3572	IL6ST	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3572	IL6ST	HP:0000821	Hypothyroidism	1/1	OMIM:619750
3572	IL6ST	HP:0000823	Delayed puberty	-	OMIM:131300
3572	IL6ST	HP:0000894	Short clavicles	-	OMIM:615777
3572	IL6ST	HP:0003212	Increased circulating IgE concentration	11/11	OMIM:619752
3572	IL6ST	HP:0003212	Increased circulating IgE concentration	1/1	OMIM:618523
3572	IL6ST	HP:0040218	Reduced total natural killer cell count	2/12	OMIM:619752
3572	IL6ST	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3572	IL6ST	HP:0000998	Hypertrichosis	1/1	OMIM:619750
3572	IL6ST	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3572	IL6ST	HP:0000964	Eczematoid dermatitis	1/1	OMIM:618523
3572	IL6ST	HP:0000964	Eczematoid dermatitis	1/2	OMIM:619751
3572	IL6ST	HP:0000286	Epicanthus	1/7	OMIM:615777
3572	IL6ST	HP:0000280	Coarse facial features	2/7	OMIM:615777
3572	IL6ST	HP:0000256	Macrocephaly	1/1	OMIM:619750
3572	IL6ST	HP:0002827	Hip dislocation	1/1	OMIM:618523
3572	IL6ST	HP:0002827	Hip dislocation	3/7	OMIM:615777
3572	IL6ST	HP:0000252	Microcephaly	-	OMIM:615777
3572	IL6ST	HP:0001581	Recurrent skin infections	4/12	OMIM:619752
3572	IL6ST	HP:0000218	High palate	3/11	OMIM:619752
3572	IL6ST	HP:0000218	High palate	1/1	OMIM:619750
3572	IL6ST	HP:0002857	Genu valgum	-	OMIM:131300
3572	IL6ST	HP:0001533	Slender build	-	OMIM:131300
3572	IL6ST	HP:0002850	Decreased circulating total IgM	2/12	OMIM:619752
3572	IL6ST	HP:0001511	Intrauterine growth retardation	3/3	OMIM:619751
3572	IL6ST	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3572	IL6ST	HP:0007807	Optic nerve compression	-	OMIM:131300
3572	IL6ST	HP:0011069	Supernumerary tooth	3/12	OMIM:619752
3572	IL6ST	HP:0012385	Camptodactyly	2/6	OMIM:619751
3572	IL6ST	HP:0012368	Flat face	7/7	OMIM:615777
3572	IL6ST	HP:0005257	Thoracic hypoplasia	1/6	OMIM:619751
3572	IL6ST	HP:0006532	Recurrent pneumonia	10/11	OMIM:619752
3572	IL6ST	HP:0006532	Recurrent pneumonia	1/1	OMIM:619750
3572	IL6ST	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3572	IL6ST	HP:0002944	Thoracolumbar scoliosis	1/1	OMIM:618523
3572	IL6ST	HP:0006487	Bowing of the long bones	5/6	OMIM:619751
3572	IL6ST	HP:0000365	Hearing impairment	10/67	OMIM:131300
3572	IL6ST	HP:0000358	Posteriorly rotated ears	1/1	OMIM:619750
3572	IL6ST	HP:0000369	Low-set ears	1/1	OMIM:619750
3572	IL6ST	HP:0000343	Long philtrum	1/7	OMIM:615777
3572	IL6ST	HP:0011001	Increased bone mineral density	-	OMIM:131300
3572	IL6ST	HP:0000316	Hypertelorism	1/1	OMIM:619750
3572	IL6ST	HP:0000311	Round face	2/7	OMIM:615777
3572	IL6ST	HP:0001653	Mitral regurgitation	1/1	OMIM:619750
3572	IL6ST	HP:0002970	Genu varum	-	OMIM:615777
3572	IL6ST	HP:0001635	Congestive heart failure	1/3	OMIM:619751
3572	IL6ST	HP:0002967	Cubitus valgus	1/1	OMIM:619750
3572	IL6ST	HP:0000303	Mandibular prognathia	-	OMIM:131300
3572	IL6ST	HP:0000303	Mandibular prognathia	1/1	OMIM:619750
3572	IL6ST	HP:0000403	Recurrent otitis media	1/1	OMIM:618523
3572	IL6ST	HP:0005280	Depressed nasal bridge	1/1	OMIM:619750
3572	IL6ST	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3572	IL6ST	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:619750
3572	IL6ST	HP:0000491	Keratitis	1/1	OMIM:618523
3572	IL6ST	HP:0000463	Anteverted nares	1/1	OMIM:619750
3572	IL6ST	HP:0000470	Short neck	1/1	OMIM:619750
3572	IL6ST	HP:0000470	Short neck	1/7	OMIM:615777
3572	IL6ST	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3572	IL6ST	HP:0001763	Pes planus	1/7	OMIM:615777
3572	IL6ST	HP:0001762	Talipes equinovarus	2/11	OMIM:619752
3572	IL6ST	HP:0001840	Metatarsus adductus	-	OMIM:615777
3572	IL6ST	HP:0000520	Proptosis	2/4	OMIM:131300
3572	IL6ST	HP:0000520	Proptosis	7/7	OMIM:615777
3572	IL6ST	HP:0000592	Blue sclerae	2/7	OMIM:615777
3572	IL6ST	HP:0011227	Elevated circulating C-reactive protein concentration	1/1	OMIM:619750
3572	IL6ST	HP:0011220	Prominent forehead	1/1	OMIM:619750
3572	IL6ST	HP:0001888	Decreased total lymphocyte count	1/12	OMIM:619752
3572	IL6ST	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3572	IL6ST	HP:0001880	Increased total eosinophil count	2/2	OMIM:618523
3572	IL6ST	HP:0012514	Lower limb pain	4/4	OMIM:131300
3572	IL6ST	HP:0001873	Thrombocytopenia	1/2	OMIM:619751
3572	IL6ST	HP:0001875	Decreased total neutrophil count	1/12	OMIM:619752
3574	IL7	HP:0007565	Multiple cafe-au-lait spots	HP:0040282	ORPHA:302
3574	IL7	HP:0000007	Autosomal recessive inheritance	-	OMIM:618309
3574	IL7	HP:0002715	Abnormality of the immune system	HP:0040281	ORPHA:302
3574	IL7	HP:0100585	Telangiectasia of the skin	HP:0040283	ORPHA:302
3574	IL7	HP:0001051	Seborrheic dermatitis	HP:0040281	ORPHA:302
3574	IL7	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:302
3574	IL7	HP:0200035	Skin plaque	HP:0040281	ORPHA:302
3574	IL7	HP:0200034	Papule	HP:0040281	ORPHA:302
3574	IL7	HP:0200039	Pustule	HP:0040281	ORPHA:302
3574	IL7	HP:0200043	Verrucae	-	OMIM:618309
3574	IL7	HP:0200043	Verrucae	HP:0040281	ORPHA:302
3574	IL7	HP:0020114	Persistent human papillomavirus infection	-	OMIM:618309
3574	IL7	HP:0032160	Cryptococcal meningitis	2/3	OMIM:618309
3574	IL7	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:302
3574	IL7	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:302
3574	IL7	HP:0006739	Squamous cell carcinoma of the skin	1/3	OMIM:618309
3574	IL7	HP:0005403	Decreased total T cell count	3/3	OMIM:618309
3574	IL7	HP:0001888	Decreased total lymphocyte count	3/3	OMIM:618309
3575	IL7R	HP:0032218	Decreased proportion of CD4-positive T cells	HP:0040282	ORPHA:169154
3575	IL7R	HP:0100806	Sepsis	HP:0040283	ORPHA:39041
3575	IL7R	HP:0100827	Increased total lymphocyte count	HP:0040283	ORPHA:169154
3575	IL7R	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:39041
3575	IL7R	HP:0007549	Desquamation of skin soon after birth	HP:0040282	ORPHA:39041
3575	IL7R	HP:0008866	Failure to thrive secondary to recurrent infections	-	OMIM:608971
3575	IL7R	HP:0000007	Autosomal recessive inheritance	-	OMIM:608971
3575	IL7R	HP:0002665	Lymphoma	HP:0040283	ORPHA:39041
3575	IL7R	HP:0000155	Oral ulcer	-	OMIM:608971
3575	IL7R	HP:0000155	Oral ulcer	HP:0040283	ORPHA:169154
3575	IL7R	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:169154
3575	IL7R	HP:0002788	Recurrent upper respiratory tract infections	HP:0040283	ORPHA:169154
3575	IL7R	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:39041
3575	IL7R	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:169154
3575	IL7R	HP:0002719	Recurrent infections	HP:0040281	ORPHA:169154
3575	IL7R	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:169154
3575	IL7R	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:39041
3575	IL7R	HP:0002716	Lymphadenopathy	-	OMIM:608971
3575	IL7R	HP:0002728	Chronic mucocutaneous candidiasis	1/1	OMIM:608971
3575	IL7R	HP:0002020	Gastroesophageal reflux	1/1	OMIM:608971
3575	IL7R	HP:0002028	Chronic diarrhea	HP:0040281	ORPHA:39041
3575	IL7R	HP:0002028	Chronic diarrhea	HP:0040283	ORPHA:169154
3575	IL7R	HP:0002014	Diarrhea	-	OMIM:608971
3575	IL7R	HP:0002090	Pneumonia	HP:0040282	ORPHA:39041
3575	IL7R	HP:0002090	Pneumonia	-	OMIM:608971
3575	IL7R	HP:0003593	Infantile onset	1/1	OMIM:608971
3575	IL7R	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:39041
3575	IL7R	HP:0002240	Hepatomegaly	-	OMIM:608971
3575	IL7R	HP:0010702	Increased circulating immunoglobulin concentration	HP:0040283	ORPHA:169154
3575	IL7R	HP:0001019	Erythroderma	HP:0040281	ORPHA:39041
3575	IL7R	HP:0001019	Erythroderma	HP:0040283	ORPHA:169154
3575	IL7R	HP:0100646	Thyroiditis	HP:0040283	ORPHA:39041
3575	IL7R	HP:0001072	Thickened skin	HP:0040282	ORPHA:39041
3575	IL7R	HP:0001973	Autoimmune thrombocytopenia	HP:0040283	ORPHA:169154
3575	IL7R	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:39041
3575	IL7R	HP:0001945	Fever	HP:0040282	ORPHA:39041
3575	IL7R	HP:0001945	Fever	HP:0040283	ORPHA:169154
3575	IL7R	HP:0001903	Anemia	HP:0040283	ORPHA:39041
3575	IL7R	HP:0004332	Abnormal lymphocyte morphology	HP:0040281	ORPHA:39041
3575	IL7R	HP:0004430	Severe combined immunodeficiency	HP:0040281	ORPHA:39041
3575	IL7R	HP:0004430	Severe combined immunodeficiency	-	OMIM:608971
3575	IL7R	HP:0004429	Recurrent viral infections	HP:0040282	ORPHA:169154
3575	IL7R	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:39041
3575	IL7R	HP:0003237	Increased circulating IgG concentration	HP:0040283	ORPHA:169154
3575	IL7R	HP:0003212	Increased circulating IgE concentration	HP:0040283	ORPHA:169154
3575	IL7R	HP:0045080	Decreased CD3+ T cell proportion	HP:0040282	ORPHA:169154
3575	IL7R	HP:0003261	Increased circulating IgA concentration	HP:0040283	ORPHA:169154
3575	IL7R	HP:0000989	Pruritus	HP:0040282	ORPHA:39041
3575	IL7R	HP:0000958	Dry skin	HP:0040282	ORPHA:39041
3575	IL7R	HP:0000969	Edema	HP:0040282	ORPHA:39041
3575	IL7R	HP:0000964	Eczematoid dermatitis	-	OMIM:608971
3575	IL7R	HP:0000944	Abnormal metaphysis morphology	HP:0040283	ORPHA:39041
3575	IL7R	HP:0040187	Neonatal sepsis	HP:0040283	ORPHA:169154
3575	IL7R	HP:0001596	Alopecia	HP:0040283	ORPHA:169154
3575	IL7R	HP:0001596	Alopecia	HP:0040281	ORPHA:39041
3575	IL7R	HP:0025526	Psoriasiform lesion	HP:0040283	ORPHA:169154
3575	IL7R	HP:0001508	Failure to thrive	HP:0040281	ORPHA:39041
3575	IL7R	HP:0001508	Failure to thrive	HP:0040282	ORPHA:169154
3575	IL7R	HP:0031381	Decreased mitogen-induced T-cell proliferation	HP:0040282	ORPHA:169154
3575	IL7R	HP:0000388	Otitis media	-	OMIM:608971
3575	IL7R	HP:0002960	Autoimmunity	HP:0040283	ORPHA:39041
3575	IL7R	HP:0000403	Recurrent otitis media	1/1	OMIM:608971
3575	IL7R	HP:0001744	Splenomegaly	HP:0040282	ORPHA:39041
3575	IL7R	HP:0001744	Splenomegaly	-	OMIM:608971
3575	IL7R	HP:0005415	Decreased CD8+ T cell proportion	HP:0040282	ORPHA:169154
3575	IL7R	HP:0005403	Decreased total T cell count	11/11	OMIM:608971
3575	IL7R	HP:0005403	Decreased total T cell count	HP:0040282	ORPHA:169154
3575	IL7R	HP:0005401	Recurrent candida infections	HP:0040283	ORPHA:169154
3575	IL7R	HP:0001831	Short toe	HP:0040283	ORPHA:39041
3575	IL7R	HP:0005390	Recurrent opportunistic infections	-	OMIM:608971
3575	IL7R	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:169154
3575	IL7R	HP:0001880	Increased total eosinophil count	HP:0040282	ORPHA:39041
3575	IL7R	HP:0001880	Increased total eosinophil count	HP:0040283	ORPHA:169154
3575	IL7R	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:169154
3579	CXCR2	HP:0410252	Persistently decreased total neutrophil count	6/6	OMIM:619407
3579	CXCR2	HP:0031160	Myelokathexis	3/6	OMIM:619407
3579	CXCR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619407
3579	CXCR2	HP:0032169	Severe infection	2/4	OMIM:619407
3579	CXCR2	HP:0011463	Childhood onset	4/4	OMIM:619407
3579	CXCR2	HP:0034284	Recurrent gingivitis	4/4	OMIM:619407
3579	CXCR2	HP:0001636	Tetralogy of Fallot	0/4	OMIM:619407
3586	IL10	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
3586	IL10	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:117
3586	IL10	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:117
3586	IL10	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
3586	IL10	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:117
3586	IL10	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
3586	IL10	HP:0001269	Hemiparesis	HP:0040282	ORPHA:117
3586	IL10	HP:0001287	Meningitis	HP:0040281	ORPHA:117
3586	IL10	HP:0001289	Confusion	HP:0040282	ORPHA:117
3586	IL10	HP:0001288	Gait disturbance	HP:0040282	ORPHA:117
3586	IL10	HP:0001250	Seizure	HP:0040283	ORPHA:117
3586	IL10	HP:0001250	Seizure	HP:0040283	ORPHA:536
3586	IL10	HP:0001251	Ataxia	HP:0040283	ORPHA:117
3586	IL10	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
3586	IL10	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:117
3586	IL10	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:117
3586	IL10	HP:0000099	Glomerulonephritis	HP:0040284	ORPHA:117
3586	IL10	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
3586	IL10	HP:0001370	Rheumatoid arthritis	-	OMIM:180300
3586	IL10	HP:0001369	Arthritis	HP:0040282	ORPHA:536
3586	IL10	HP:0001369	Arthritis	HP:0040281	ORPHA:117
3586	IL10	HP:0001386	Joint swelling	-	OMIM:180300
3586	IL10	HP:0001387	Joint stiffness	-	OMIM:180300
3586	IL10	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:117
3586	IL10	HP:0000031	Epididymitis	HP:0040283	ORPHA:117
3586	IL10	HP:0033834	Malaise	HP:0040281	ORPHA:536
3586	IL10	HP:0012085	Pyuria	HP:0040282	ORPHA:536
3586	IL10	HP:0006150	Swan neck-like deformities of the fingers	-	OMIM:180300
3586	IL10	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
3586	IL10	HP:0025300	Malar rash	HP:0040282	ORPHA:536
3586	IL10	HP:0002638	Superficial thrombophlebitis	HP:0040282	ORPHA:117
3586	IL10	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:117
3586	IL10	HP:0002633	Vasculitis	-	OMIM:180300
3586	IL10	HP:0002633	Vasculitis	HP:0040281	ORPHA:117
3586	IL10	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
3586	IL10	HP:0000155	Oral ulcer	HP:0040281	ORPHA:117
3586	IL10	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:117
3586	IL10	HP:0012121	Panuveitis	HP:0040282	ORPHA:117
3586	IL10	HP:0006252	Interphalangeal joint erosions	-	OMIM:180300
3586	IL10	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:117
3586	IL10	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
3586	IL10	HP:0002024	Malabsorption	HP:0040283	ORPHA:117
3586	IL10	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:117
3586	IL10	HP:0002027	Abdominal pain	HP:0040282	ORPHA:117
3586	IL10	HP:0003326	Myalgia	HP:0040281	ORPHA:117
3586	IL10	HP:0002014	Diarrhea	HP:0040284	ORPHA:117
3586	IL10	HP:0002076	Migraine	HP:0040281	ORPHA:117
3586	IL10	HP:0002072	Chorea	HP:0040284	ORPHA:536
3586	IL10	HP:0002039	Anorexia	HP:0040281	ORPHA:536
3586	IL10	HP:0002039	Anorexia	HP:0040283	ORPHA:117
3586	IL10	HP:0100584	Endocarditis	HP:0040283	ORPHA:117
3586	IL10	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
3586	IL10	HP:0002102	Pleuritis	HP:0040283	ORPHA:117
3586	IL10	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:117
3586	IL10	HP:0002105	Hemoptysis	HP:0040283	ORPHA:117
3586	IL10	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
3586	IL10	HP:0003401	Paresthesia	HP:0040283	ORPHA:117
3586	IL10	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:117
3586	IL10	HP:0003565	Elevated erythrocyte sedimentation rate	-	OMIM:180300
3586	IL10	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:117
3586	IL10	HP:0002202	Pleural effusion	HP:0040283	ORPHA:117
3586	IL10	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:117
3586	IL10	HP:0100796	Orchitis	HP:0040281	ORPHA:117
3586	IL10	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
3586	IL10	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
3586	IL10	HP:0100758	Gangrene	HP:0040283	ORPHA:117
3586	IL10	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:117
3586	IL10	HP:0001061	Acne	HP:0040282	ORPHA:117
3586	IL10	HP:0002376	Developmental regression	HP:0040283	ORPHA:117
3586	IL10	HP:0002354	Memory impairment	HP:0040283	ORPHA:117
3586	IL10	HP:0002321	Vertigo	HP:0040283	ORPHA:117
3586	IL10	HP:0002315	Headache	HP:0040282	ORPHA:117
3586	IL10	HP:0100653	Optic neuritis	HP:0040283	ORPHA:117
3586	IL10	HP:0100654	Retrobulbar optic neuritis	HP:0040283	ORPHA:117
3586	IL10	HP:0200034	Papule	HP:0040281	ORPHA:117
3586	IL10	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
3586	IL10	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:117
3586	IL10	HP:0100614	Myositis	HP:0040283	ORPHA:117
3586	IL10	HP:0200039	Pustule	HP:0040282	ORPHA:117
3586	IL10	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:117
3586	IL10	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
3586	IL10	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:117
3586	IL10	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:117
3586	IL10	HP:4000041	AA amyloidosis	HP:0040283	ORPHA:117
3586	IL10	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
3586	IL10	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
3586	IL10	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
3586	IL10	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
3586	IL10	HP:0000618	Blindness	HP:0040283	ORPHA:117
3586	IL10	HP:0000613	Photophobia	HP:0040281	ORPHA:117
3586	IL10	HP:0001945	Fever	-	OMIM:180300
3586	IL10	HP:0001945	Fever	HP:0040281	ORPHA:117
3586	IL10	HP:0001945	Fever	HP:0040281	ORPHA:536
3586	IL10	HP:0001954	Recurrent fever	HP:0040283	ORPHA:117
3586	IL10	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:117
3586	IL10	HP:0000737	Irritability	HP:0040283	ORPHA:117
3586	IL10	HP:0000716	Depression	HP:0040283	ORPHA:536
3586	IL10	HP:0000708	Atypical behavior	HP:0040283	ORPHA:117
3586	IL10	HP:0000790	Hematuria	HP:0040282	ORPHA:536
3586	IL10	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:117
3586	IL10	HP:0005764	Polyarticular arthritis	-	OMIM:180300
3586	IL10	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
3586	IL10	HP:0100326	Immunologic hypersensitivity	HP:0040282	ORPHA:117
3586	IL10	HP:0012819	Myocarditis	HP:0040283	ORPHA:117
3586	IL10	HP:0000822	Hypertension	HP:0040282	ORPHA:536
3586	IL10	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
3586	IL10	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
3586	IL10	HP:0045073	Serositis	HP:0040283	ORPHA:536
3586	IL10	HP:0003249	Genital ulcers	HP:0040282	ORPHA:117
3586	IL10	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
3586	IL10	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
3586	IL10	HP:0033034	Anti-citrullinated protein antibody positivity	-	OMIM:180300
3586	IL10	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
3586	IL10	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:117
3586	IL10	HP:0012276	Digital flexor tenosynovitis	-	OMIM:180300
3586	IL10	HP:0001596	Alopecia	HP:0040282	ORPHA:536
3586	IL10	HP:0002829	Arthralgia	-	OMIM:180300
3586	IL10	HP:0002829	Arthralgia	HP:0040282	ORPHA:117
3586	IL10	HP:0025532	Positive pathergy test	HP:0040282	ORPHA:117
3586	IL10	HP:0012219	Erythema nodosum	HP:0040282	ORPHA:117
3586	IL10	HP:0007813	Nongranulomatous uveitis	HP:0040282	ORPHA:117
3586	IL10	HP:0012378	Fatigue	-	OMIM:180300
3586	IL10	HP:0012378	Fatigue	HP:0040281	ORPHA:117
3586	IL10	HP:0012378	Fatigue	HP:0040281	ORPHA:536
3586	IL10	HP:0002923	Rheumatoid factor positive	-	OMIM:180300
3586	IL10	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:117
3586	IL10	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:117
3586	IL10	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:117
3586	IL10	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:117
3586	IL10	HP:0001733	Pancreatitis	HP:0040283	ORPHA:117
3586	IL10	HP:0001701	Pericarditis	HP:0040283	ORPHA:117
3586	IL10	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
3586	IL10	HP:0000488	Retinopathy	HP:0040283	ORPHA:117
3586	IL10	HP:0011107	Recurrent aphthous stomatitis	HP:0040281	ORPHA:117
3586	IL10	HP:0001744	Splenomegaly	HP:0040283	ORPHA:117
3586	IL10	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
3586	IL10	HP:0000518	Cataract	HP:0040283	ORPHA:117
3586	IL10	HP:0001824	Weight loss	-	OMIM:180300
3586	IL10	HP:0001824	Weight loss	HP:0040283	ORPHA:117
3586	IL10	HP:0001824	Weight loss	HP:0040281	ORPHA:536
3586	IL10	HP:0011227	Elevated circulating C-reactive protein concentration	-	OMIM:180300
3586	IL10	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:117
3586	IL10	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
3586	IL10	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
3586	IL10	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
3587	IL10RA	HP:0002583	Colitis	1/1	OMIM:613148
3587	IL10RA	HP:0002573	Hematochezia	1/1	OMIM:613148
3587	IL10RA	HP:0000007	Autosomal recessive inheritance	-	OMIM:613148
3587	IL10RA	HP:0000155	Oral ulcer	1/1	OMIM:613148
3587	IL10RA	HP:0025084	Folliculitis	1/1	OMIM:613148
3587	IL10RA	HP:0009789	Perianal abscess	1/1	OMIM:613148
3587	IL10RA	HP:0004387	Enterocolitis	1/1	OMIM:613148
3587	IL10RA	HP:0000999	Pyoderma	1/1	OMIM:613148
3587	IL10RA	HP:0100280	Crohn's disease	1/1	OMIM:613148
3587	IL10RA	HP:0001510	Growth delay	1/1	OMIM:613148
3588	IL10RB	HP:0000007	Autosomal recessive inheritance	-	OMIM:612567
3588	IL10RB	HP:0000143	Rectovaginal fistula	1/1	OMIM:612567
3588	IL10RB	HP:0033256	Pancolitis	1/1	OMIM:612567
3588	IL10RB	HP:0033279	Enterocutaneous fistula	1/2	OMIM:612567
3588	IL10RB	HP:0003593	Infantile onset	3/3	OMIM:612567
3588	IL10RB	HP:0025084	Folliculitis	1/1	OMIM:612567
3588	IL10RB	HP:0009789	Perianal abscess	1/2	OMIM:612567
3588	IL10RB	HP:0004387	Enterocolitis	2/2	OMIM:612567
3588	IL10RB	HP:0002837	Recurrent bronchitis	1/1	OMIM:612567
3590	IL11RA	HP:0001250	Seizure	1/2	OMIM:614188
3590	IL11RA	HP:0000007	Autosomal recessive inheritance	-	OMIM:614188
3590	IL11RA	HP:0000189	Narrow palate	1/2	OMIM:614188
3590	IL11RA	HP:0004691	2-3 toe syndactyly	3/3	OMIM:614188
3590	IL11RA	HP:0002007	Frontal bossing	1/2	OMIM:614188
3590	IL11RA	HP:0011800	Midface retrusion	1/2	OMIM:614188
3590	IL11RA	HP:0003396	Syringomyelia	1/2	OMIM:614188
3590	IL11RA	HP:0100798	Fingernail dysplasia	1/3	OMIM:614188
3590	IL11RA	HP:0009803	Short phalanx of finger	1/3	OMIM:614188
3590	IL11RA	HP:0001085	Papilledema	7/7	OMIM:614188
3590	IL11RA	HP:0002308	Chiari malformation	1/2	OMIM:614188
3590	IL11RA	HP:0010055	Broad hallux	4/4	OMIM:614188
3590	IL11RA	HP:0000684	Delayed eruption of teeth	4/4	OMIM:614188
3590	IL11RA	HP:0000678	Dental crowding	1/2	OMIM:614188
3590	IL11RA	HP:0011330	Metopic synostosis	8/8	OMIM:614188
3590	IL11RA	HP:0000689	Dental malocclusion	2/2	OMIM:614188
3590	IL11RA	HP:0004322	Short stature	1/3	OMIM:614188
3590	IL11RA	HP:0011455	Absent malleus	1/2	OMIM:614188
3590	IL11RA	HP:0011463	Childhood onset	2/2	OMIM:614188
3590	IL11RA	HP:0004443	Lambdoidal craniosynostosis	4/6	OMIM:614188
3590	IL11RA	HP:0004442	Sagittal craniosynostosis	6/6	OMIM:614188
3590	IL11RA	HP:0004440	Coronal craniosynostosis	8/8	OMIM:614188
3590	IL11RA	HP:0004439	Craniofacial dysostosis	2/2	OMIM:614188
3590	IL11RA	HP:0004425	Flat forehead	3/7	OMIM:614188
3590	IL11RA	HP:0030799	Scaphocephaly	HP:0040283	OMIM:614188
3590	IL11RA	HP:0000263	Oxycephaly	1/4	OMIM:614188
3590	IL11RA	HP:0000262	Turricephaly	HP:0040283	OMIM:614188
3590	IL11RA	HP:0000268	Dolichocephaly	HP:0040283	OMIM:614188
3590	IL11RA	HP:0030084	Clinodactyly	HP:0040283	OMIM:614188
3590	IL11RA	HP:0000243	Trigonocephaly	HP:0040283	OMIM:614188
3590	IL11RA	HP:0000248	Brachycephaly	5/6	OMIM:614188
3590	IL11RA	HP:0000218	High palate	1/2	OMIM:614188
3590	IL11RA	HP:0011069	Supernumerary tooth	4/6	OMIM:614188
3590	IL11RA	HP:0000381	Stapes ankylosis	1/2	OMIM:614188
3590	IL11RA	HP:0000389	Chronic otitis media	1/2	OMIM:614188
3590	IL11RA	HP:0000340	Sloping forehead	2/7	OMIM:614188
3590	IL11RA	HP:0000348	High forehead	1/2	OMIM:614188
3590	IL11RA	HP:0000316	Hypertelorism	HP:0040283	OMIM:614188
3590	IL11RA	HP:0000327	Hypoplasia of the maxilla	9/10	OMIM:614188
3590	IL11RA	HP:0000303	Mandibular prognathia	1/2	OMIM:614188
3590	IL11RA	HP:0000405	Conductive hearing impairment	1/2	OMIM:614188
3590	IL11RA	HP:0005280	Depressed nasal bridge	1/2	OMIM:614188
3590	IL11RA	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:614188
3590	IL11RA	HP:0000444	Convex nasal ridge	1/2	OMIM:614188
3590	IL11RA	HP:0000445	Wide nose	1/2	OMIM:614188
3590	IL11RA	HP:0005487	Prominent metopic ridge	1/4	OMIM:614188
3590	IL11RA	HP:0005469	Flat occiput	1/4	OMIM:614188
3590	IL11RA	HP:0000520	Proptosis	1/2	OMIM:614188
3590	IL11RA	HP:0001822	Hallux valgus	4/4	OMIM:614188
3592	IL12A	HP:0002480	Hepatic encephalopathy	HP:0040283	ORPHA:186
3592	IL12A	HP:0001114	Xanthelasma	HP:0040282	ORPHA:186
3592	IL12A	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:117
3592	IL12A	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:117
3592	IL12A	HP:0001278	Orthostatic hypotension	HP:0040282	ORPHA:186
3592	IL12A	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:117
3592	IL12A	HP:0001269	Hemiparesis	HP:0040282	ORPHA:117
3592	IL12A	HP:0001287	Meningitis	HP:0040281	ORPHA:117
3592	IL12A	HP:0001289	Confusion	HP:0040282	ORPHA:117
3592	IL12A	HP:0001288	Gait disturbance	HP:0040282	ORPHA:117
3592	IL12A	HP:0001250	Seizure	HP:0040283	ORPHA:117
3592	IL12A	HP:0001251	Ataxia	HP:0040283	ORPHA:117
3592	IL12A	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:186
3592	IL12A	HP:0002570	Steatorrhea	HP:0040283	ORPHA:186
3592	IL12A	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:117
3592	IL12A	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:117
3592	IL12A	HP:0000099	Glomerulonephritis	HP:0040284	ORPHA:117
3592	IL12A	HP:0001399	Hepatic failure	HP:0040282	ORPHA:186
3592	IL12A	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:186
3592	IL12A	HP:0001394	Cirrhosis	HP:0040281	ORPHA:186
3592	IL12A	HP:0001369	Arthritis	HP:0040281	ORPHA:117
3592	IL12A	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:117
3592	IL12A	HP:0000031	Epididymitis	HP:0040283	ORPHA:117
3592	IL12A	HP:0002638	Superficial thrombophlebitis	HP:0040282	ORPHA:117
3592	IL12A	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:117
3592	IL12A	HP:0002633	Vasculitis	HP:0040281	ORPHA:117
3592	IL12A	HP:0002613	Biliary cirrhosis	HP:0040281	ORPHA:186
3592	IL12A	HP:0002608	Celiac disease	HP:0040283	ORPHA:186
3592	IL12A	HP:0000155	Oral ulcer	HP:0040281	ORPHA:117
3592	IL12A	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:117
3592	IL12A	HP:0012115	Hepatitis	HP:0040283	ORPHA:186
3592	IL12A	HP:0012121	Panuveitis	HP:0040282	ORPHA:117
3592	IL12A	HP:0001409	Portal hypertension	HP:0040282	ORPHA:186
3592	IL12A	HP:0001402	Hepatocellular carcinoma	HP:0040282	ORPHA:186
3592	IL12A	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:117
3592	IL12A	HP:0002024	Malabsorption	HP:0040283	ORPHA:117
3592	IL12A	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:117
3592	IL12A	HP:0002027	Abdominal pain	HP:0040282	ORPHA:117
3592	IL12A	HP:0003326	Myalgia	HP:0040281	ORPHA:117
3592	IL12A	HP:0002014	Diarrhea	HP:0040284	ORPHA:117
3592	IL12A	HP:0002076	Migraine	HP:0040281	ORPHA:117
3592	IL12A	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040282	ORPHA:186
3592	IL12A	HP:0002040	Esophageal varix	HP:0040283	ORPHA:186
3592	IL12A	HP:0002039	Anorexia	HP:0040283	ORPHA:117
3592	IL12A	HP:0100584	Endocarditis	HP:0040283	ORPHA:117
3592	IL12A	HP:0002102	Pleuritis	HP:0040283	ORPHA:117
3592	IL12A	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:117
3592	IL12A	HP:0002105	Hemoptysis	HP:0040283	ORPHA:117
3592	IL12A	HP:0003496	Increased circulating IgM level	HP:0040282	ORPHA:186
3592	IL12A	HP:0003493	Antinuclear antibody positivity	HP:0040282	ORPHA:186
3592	IL12A	HP:0003401	Paresthesia	HP:0040283	ORPHA:117
3592	IL12A	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:186
3592	IL12A	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:117
3592	IL12A	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:117
3592	IL12A	HP:0002202	Pleural effusion	HP:0040283	ORPHA:117
3592	IL12A	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:117
3592	IL12A	HP:0100796	Orchitis	HP:0040281	ORPHA:117
3592	IL12A	HP:0100758	Gangrene	HP:0040283	ORPHA:117
3592	IL12A	HP:0011971	Dermatographic urticaria	HP:0040281	ORPHA:186
3592	IL12A	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:117
3592	IL12A	HP:0001061	Acne	HP:0040282	ORPHA:117
3592	IL12A	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:186
3592	IL12A	HP:0002376	Developmental regression	HP:0040283	ORPHA:117
3592	IL12A	HP:0002354	Memory impairment	HP:0040283	ORPHA:117
3592	IL12A	HP:0002321	Vertigo	HP:0040283	ORPHA:117
3592	IL12A	HP:0002315	Headache	HP:0040282	ORPHA:117
3592	IL12A	HP:0100653	Optic neuritis	HP:0040283	ORPHA:117
3592	IL12A	HP:0100654	Retrobulbar optic neuritis	HP:0040283	ORPHA:117
3592	IL12A	HP:0200034	Papule	HP:0040281	ORPHA:117
3592	IL12A	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:117
3592	IL12A	HP:0100614	Myositis	HP:0040283	ORPHA:117
3592	IL12A	HP:0200039	Pustule	HP:0040282	ORPHA:117
3592	IL12A	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:117
3592	IL12A	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:117
3592	IL12A	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:117
3592	IL12A	HP:4000041	AA amyloidosis	HP:0040283	ORPHA:117
3592	IL12A	HP:0000618	Blindness	HP:0040283	ORPHA:117
3592	IL12A	HP:0000613	Photophobia	HP:0040281	ORPHA:117
3592	IL12A	HP:0001945	Fever	HP:0040281	ORPHA:117
3592	IL12A	HP:0001954	Recurrent fever	HP:0040283	ORPHA:117
3592	IL12A	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:117
3592	IL12A	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:186
3592	IL12A	HP:0004386	Gastrointestinal inflammation	HP:0040284	ORPHA:186
3592	IL12A	HP:0000737	Irritability	HP:0040283	ORPHA:117
3592	IL12A	HP:0000708	Atypical behavior	HP:0040283	ORPHA:117
3592	IL12A	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:186
3592	IL12A	HP:0003119	Abnormal circulating lipid concentration	HP:0040282	ORPHA:186
3592	IL12A	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:117
3592	IL12A	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:186
3592	IL12A	HP:0100326	Immunologic hypersensitivity	HP:0040282	ORPHA:117
3592	IL12A	HP:0012819	Myocarditis	HP:0040283	ORPHA:117
3592	IL12A	HP:0000820	Abnormality of the thyroid gland	HP:0040282	ORPHA:186
3592	IL12A	HP:0003270	Abdominal distention	HP:0040283	ORPHA:186
3592	IL12A	HP:0003249	Genital ulcers	HP:0040282	ORPHA:117
3592	IL12A	HP:0003261	Increased circulating IgA concentration	HP:0040283	ORPHA:186
3592	IL12A	HP:0000989	Pruritus	HP:0040282	ORPHA:186
3592	IL12A	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:186
3592	IL12A	HP:0000952	Jaundice	HP:0040282	ORPHA:186
3592	IL12A	HP:0000939	Osteoporosis	HP:0040283	ORPHA:186
3592	IL12A	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:117
3592	IL12A	HP:0002829	Arthralgia	HP:0040282	ORPHA:117
3592	IL12A	HP:0025532	Positive pathergy test	HP:0040282	ORPHA:117
3592	IL12A	HP:0012219	Erythema nodosum	HP:0040282	ORPHA:117
3592	IL12A	HP:0012203	Onychomycosis	HP:0040282	ORPHA:186
3592	IL12A	HP:0001541	Ascites	HP:0040283	ORPHA:186
3592	IL12A	HP:0002841	Recurrent fungal infections	HP:0040282	ORPHA:186
3592	IL12A	HP:0007813	Nongranulomatous uveitis	HP:0040282	ORPHA:117
3592	IL12A	HP:0012378	Fatigue	HP:0040281	ORPHA:117
3592	IL12A	HP:0012378	Fatigue	HP:0040283	ORPHA:186
3592	IL12A	HP:0011040	Abnormal intrahepatic bile duct morphology	HP:0040282	ORPHA:186
3592	IL12A	HP:0002908	Conjugated hyperbilirubinemia	HP:0040281	ORPHA:186
3592	IL12A	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:117
3592	IL12A	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:117
3592	IL12A	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:117
3592	IL12A	HP:0002960	Autoimmunity	HP:0040282	ORPHA:186
3592	IL12A	HP:0030167	Antimitochondrial antibody positivity	HP:0040281	ORPHA:186
3592	IL12A	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:117
3592	IL12A	HP:0001733	Pancreatitis	HP:0040283	ORPHA:117
3592	IL12A	HP:0001701	Pericarditis	HP:0040283	ORPHA:117
3592	IL12A	HP:0000488	Retinopathy	HP:0040283	ORPHA:117
3592	IL12A	HP:0011107	Recurrent aphthous stomatitis	HP:0040281	ORPHA:117
3592	IL12A	HP:0001744	Splenomegaly	HP:0040283	ORPHA:117
3592	IL12A	HP:0001744	Splenomegaly	HP:0040283	ORPHA:186
3592	IL12A	HP:0000518	Cataract	HP:0040283	ORPHA:117
3592	IL12A	HP:0001824	Weight loss	HP:0040283	ORPHA:117
3592	IL12A	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:117
3593	IL12B	HP:0001297	Stroke	HP:0040283	ORPHA:3287
3593	IL12B	HP:0001250	Seizure	HP:0040282	ORPHA:3287
3593	IL12B	HP:0001369	Arthritis	HP:0040282	ORPHA:3287
3593	IL12B	HP:0033834	Malaise	HP:0040283	ORPHA:3287
3593	IL12B	HP:0012089	Arteritis	HP:0040281	ORPHA:3287
3593	IL12B	HP:0001324	Muscle weakness	HP:0040282	ORPHA:3287
3593	IL12B	HP:0000007	Autosomal recessive inheritance	-	OMIM:614890
3593	IL12B	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:3287
3593	IL12B	HP:0002633	Vasculitis	HP:0040281	ORPHA:3287
3593	IL12B	HP:0002617	Vascular dilatation	HP:0040281	ORPHA:3287
3593	IL12B	HP:0032554	Absent pulse	HP:0040282	ORPHA:3287
3593	IL12B	HP:6000944	Carotidynia	HP:0040282	ORPHA:3287
3593	IL12B	HP:6000945	Asymmetric blood pressure between arms	HP:0040282	ORPHA:3287
3593	IL12B	HP:0002721	Immunodeficiency	-	OMIM:614890
3593	IL12B	HP:0003326	Myalgia	HP:0040282	ORPHA:3287
3593	IL12B	HP:0100545	Arterial stenosis	HP:0040281	ORPHA:3287
3593	IL12B	HP:0002094	Dyspnea	HP:0040283	ORPHA:3287
3593	IL12B	HP:0002092	Pulmonary arterial hypertension	HP:0040282	ORPHA:3287
3593	IL12B	HP:0002076	Migraine	HP:0040282	ORPHA:3287
3593	IL12B	HP:0002039	Anorexia	HP:0040282	ORPHA:3287
3593	IL12B	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:3287
3593	IL12B	HP:0002105	Hemoptysis	HP:0040283	ORPHA:3287
3593	IL12B	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:3287
3593	IL12B	HP:0003593	Infantile onset	1/1	OMIM:614890
3593	IL12B	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:3287
3593	IL12B	HP:0100735	Hypertensive crisis	HP:0040281	ORPHA:3287
3593	IL12B	HP:0100749	Chest pain	HP:0040282	ORPHA:3287
3593	IL12B	HP:0100758	Gangrene	HP:0040282	ORPHA:3287
3593	IL12B	HP:0020086	BCGitis	1/1	OMIM:614890
3593	IL12B	HP:0002321	Vertigo	HP:0040283	ORPHA:3287
3593	IL12B	HP:0002315	Headache	HP:0040282	ORPHA:3287
3593	IL12B	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:3287
3593	IL12B	HP:0200042	Skin ulcer	HP:0040282	ORPHA:3287
3593	IL12B	HP:0004970	Ascending tubular aorta aneurysm	HP:0040282	ORPHA:3287
3593	IL12B	HP:0020141	Blood pressure substantially higher in legs than arms	HP:0040282	ORPHA:3287
3593	IL12B	HP:0001945	Fever	HP:0040281	ORPHA:3287
3593	IL12B	HP:0001920	Renal artery stenosis	HP:0040282	ORPHA:3287
3593	IL12B	HP:0001903	Anemia	HP:0040282	ORPHA:3287
3593	IL12B	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:3287
3593	IL12B	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:3287
3593	IL12B	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:3287
3593	IL12B	HP:0004417	Intermittent claudication	HP:0040282	ORPHA:3287
3593	IL12B	HP:0000822	Hypertension	HP:0040282	ORPHA:3287
3593	IL12B	HP:0002829	Arthralgia	HP:0040283	ORPHA:3287
3593	IL12B	HP:0012219	Erythema nodosum	HP:0040283	ORPHA:3287
3593	IL12B	HP:0012378	Fatigue	HP:0040281	ORPHA:3287
3593	IL12B	HP:0005244	Gastrointestinal infarctions	HP:0040283	ORPHA:3287
3593	IL12B	HP:0001646	Abnormal aortic valve morphology	HP:0040282	ORPHA:3287
3593	IL12B	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:3287
3593	IL12B	HP:0001658	Myocardial infarction	HP:0040282	ORPHA:3287
3593	IL12B	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:3287
3593	IL12B	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:3287
3593	IL12B	HP:0030166	Night sweats	HP:0040283	ORPHA:3287
3593	IL12B	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:3287
3593	IL12B	HP:0000488	Retinopathy	HP:0040283	ORPHA:3287
3593	IL12B	HP:0001824	Weight loss	HP:0040281	ORPHA:3287
3593	IL12B	HP:0000505	Visual impairment	HP:0040283	ORPHA:3287
3593	IL12B	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040283	ORPHA:3287
3594	IL12RB1	HP:0002480	Hepatic encephalopathy	HP:0040283	ORPHA:186
3594	IL12RB1	HP:0001114	Xanthelasma	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0032249	Coccidioidomycosis	HP:0040284	ORPHA:319552
3594	IL12RB1	HP:0032256	Histoplasmosis	HP:0040284	ORPHA:319552
3594	IL12RB1	HP:0032283	Disseminated nontuberculous mycobacterial infection	HP:0040282	ORPHA:319552
3594	IL12RB1	HP:0001278	Orthostatic hypotension	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:186
3594	IL12RB1	HP:0002570	Steatorrhea	HP:0040283	ORPHA:186
3594	IL12RB1	HP:0007408	Tegumentary leishmaniasis susceptibility	HP:0040283	ORPHA:319552
3594	IL12RB1	HP:0001399	Hepatic failure	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0001394	Cirrhosis	HP:0040281	ORPHA:186
3594	IL12RB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614891
3594	IL12RB1	HP:0002613	Biliary cirrhosis	HP:0040281	ORPHA:186
3594	IL12RB1	HP:0002608	Celiac disease	HP:0040283	ORPHA:186
3594	IL12RB1	HP:0012115	Hepatitis	HP:0040283	ORPHA:186
3594	IL12RB1	HP:0001409	Portal hypertension	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0001402	Hepatocellular carcinoma	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0002742	Recurrent Klebsiella infections	HP:0040284	ORPHA:319552
3594	IL12RB1	HP:0002719	Recurrent infections	-	OMIM:614891
3594	IL12RB1	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:319552
3594	IL12RB1	HP:0002721	Immunodeficiency	-	OMIM:614891
3594	IL12RB1	HP:0002090	Pneumonia	HP:0040283	ORPHA:319552
3594	IL12RB1	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0002040	Esophageal varix	HP:0040283	ORPHA:186
3594	IL12RB1	HP:0003496	Increased circulating IgM level	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0003493	Antinuclear antibody positivity	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0011971	Dermatographic urticaria	HP:0040281	ORPHA:186
3594	IL12RB1	HP:0020087	BCGosis	HP:0040281	ORPHA:319552
3594	IL12RB1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:186
3594	IL12RB1	HP:0200029	Vasculitis in the skin	HP:0040284	ORPHA:319552
3594	IL12RB1	HP:0020105	Severe toxoplasmosis	HP:0040284	ORPHA:319552
3594	IL12RB1	HP:0005661	Salmonella osteomyelitis	HP:0040283	ORPHA:319552
3594	IL12RB1	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:186
3594	IL12RB1	HP:0004386	Gastrointestinal inflammation	HP:0040284	ORPHA:186
3594	IL12RB1	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0003119	Abnormal circulating lipid concentration	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0000820	Abnormality of the thyroid gland	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0003270	Abdominal distention	HP:0040283	ORPHA:186
3594	IL12RB1	HP:0003261	Increased circulating IgA concentration	HP:0040283	ORPHA:186
3594	IL12RB1	HP:0000989	Pruritus	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:186
3594	IL12RB1	HP:0000952	Jaundice	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:186
3594	IL12RB1	HP:0012203	Onychomycosis	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0001541	Ascites	HP:0040283	ORPHA:186
3594	IL12RB1	HP:0002840	Lymphadenitis	HP:0040282	ORPHA:319552
3594	IL12RB1	HP:0002841	Recurrent fungal infections	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0012378	Fatigue	HP:0040283	ORPHA:186
3594	IL12RB1	HP:0011040	Abnormal intrahepatic bile duct morphology	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0002908	Conjugated hyperbilirubinemia	HP:0040281	ORPHA:186
3594	IL12RB1	HP:0002960	Autoimmunity	HP:0040282	ORPHA:186
3594	IL12RB1	HP:0030167	Antimitochondrial antibody positivity	HP:0040281	ORPHA:186
3594	IL12RB1	HP:0011117	Abnormal circulating interleukin concentration	HP:0040281	ORPHA:319552
3594	IL12RB1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:186
3594	IL12RB1	HP:0005401	Recurrent candida infections	HP:0040282	ORPHA:319552
3594	IL12RB1	HP:0011274	Recurrent mycobacterial infections	-	OMIM:614891
3594	IL12RB1	HP:0011274	Recurrent mycobacterial infections	HP:0040281	ORPHA:319552
3596	IL13	HP:0000006	Autosomal dominant inheritance	-	OMIM:600807
3596	IL13	HP:0001426	Non-Mendelian inheritance	-	OMIM:600807
3596	IL13	HP:0002099	Asthma	-	OMIM:600807
3596	IL13	HP:4000007	Bronchoconstriction	-	OMIM:600807
3596	IL13	HP:0032933	Airway hyperresponsiveness	-	OMIM:600807
3604	TNFRSF9	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	1/2	OMIM:620282
3604	TNFRSF9	HP:0000007	Autosomal recessive inheritance	-	OMIM:620282
3604	TNFRSF9	HP:0012189	Hodgkin lymphoma	1/2	OMIM:620282
3604	TNFRSF9	HP:0008940	Generalized lymphadenopathy	2/2	OMIM:620282
3604	TNFRSF9	HP:0002783	Recurrent lower respiratory tract infections	1/2	OMIM:620282
3604	TNFRSF9	HP:0002155	Hypertriglyceridemia	1/2	OMIM:620282
3604	TNFRSF9	HP:0002110	Bronchiectasis	1/2	OMIM:620282
3604	TNFRSF9	HP:0011900	Hypofibrinogenemia	1/2	OMIM:620282
3604	TNFRSF9	HP:0020072	Persistent EBV viremia	2/2	OMIM:620282
3604	TNFRSF9	HP:0003621	Juvenile onset	1/2	OMIM:620282
3604	TNFRSF9	HP:0004315	Decreased circulating IgG concentration	1/2	OMIM:620282
3604	TNFRSF9	HP:0011463	Childhood onset	1/2	OMIM:620282
3604	TNFRSF9	HP:0031382	Decreased anti-CD3/28-induced T-cell proliferation	2/2	OMIM:620282
3604	TNFRSF9	HP:0012476	Decreased specific pneumococcal antibody level	1/2	OMIM:620282
3604	TNFRSF9	HP:0011108	Recurrent sinusitis	1/2	OMIM:620282
3604	TNFRSF9	HP:0030252	Absent circulating B cells	1/2	OMIM:620282
3604	TNFRSF9	HP:0001744	Splenomegaly	2/2	OMIM:620282
3604	TNFRSF9	HP:0001876	Pancytopenia	1/2	OMIM:620282
3612	IMPA1	HP:0001249	Intellectual disability	9/9	OMIM:617323
3612	IMPA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617323
3612	IMPA1	HP:0011999	Paranoia	6/9	OMIM:617323
3612	IMPA1	HP:0000718	Aggressive behavior	6/9	OMIM:617323
3614	IMPDH1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
3614	IMPDH1	HP:0001133	Constriction of peripheral visual field	1/1	OMIM:180105
3614	IMPDH1	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
3614	IMPDH1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
3614	IMPDH1	HP:0001270	Motor delay	HP:0040283	ORPHA:65
3614	IMPDH1	HP:0001250	Seizure	HP:0040282	ORPHA:65
3614	IMPDH1	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
3614	IMPDH1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
3614	IMPDH1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
3614	IMPDH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
3614	IMPDH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180105
3614	IMPDH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
3614	IMPDH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613837
3614	IMPDH1	HP:0001483	Eye poking	HP:0040282	ORPHA:65
3614	IMPDH1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
3614	IMPDH1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180105
3614	IMPDH1	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
3614	IMPDH1	HP:0007663	Reduced visual acuity	1/1	OMIM:180105
3614	IMPDH1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
3614	IMPDH1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
3614	IMPDH1	HP:0007663	Reduced visual acuity	-	OMIM:613837
3614	IMPDH1	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
3614	IMPDH1	HP:0003593	Infantile onset	-	OMIM:180105
3614	IMPDH1	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
3614	IMPDH1	HP:0003621	Juvenile onset	8/19	OMIM:180100
3614	IMPDH1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
3614	IMPDH1	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
3614	IMPDH1	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
3614	IMPDH1	HP:0000639	Nystagmus	-	OMIM:613837
3614	IMPDH1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
3614	IMPDH1	HP:0000618	Blindness	HP:0040281	ORPHA:791
3614	IMPDH1	HP:0000613	Photophobia	HP:0040282	ORPHA:65
3614	IMPDH1	HP:0000613	Photophobia	HP:0040281	ORPHA:791
3614	IMPDH1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
3614	IMPDH1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
3614	IMPDH1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
3614	IMPDH1	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
3614	IMPDH1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
3614	IMPDH1	HP:0000662	Nyctalopia	1/1	OMIM:180105
3614	IMPDH1	HP:0000662	Nyctalopia	26/28	OMIM:180100
3614	IMPDH1	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
3614	IMPDH1	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
3614	IMPDH1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
3614	IMPDH1	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
3614	IMPDH1	HP:0011463	Childhood onset	1/1	OMIM:180105
3614	IMPDH1	HP:0011463	Childhood onset	3/19	OMIM:180100
3614	IMPDH1	HP:0011462	Young adult onset	8/19	OMIM:180100
3614	IMPDH1	HP:0030786	Photopsia	HP:0040283	ORPHA:791
3614	IMPDH1	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
3614	IMPDH1	HP:0011504	Bull's eye maculopathy	1/1	OMIM:180105
3614	IMPDH1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
3614	IMPDH1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
3614	IMPDH1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
3614	IMPDH1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
3614	IMPDH1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
3614	IMPDH1	HP:0007787	Posterior subcapsular cataract	HP:0040284	OMIM:180105
3614	IMPDH1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
3614	IMPDH1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
3614	IMPDH1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180105
3614	IMPDH1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
3614	IMPDH1	HP:0007843	Attenuation of retinal blood vessels	1/1	OMIM:180105
3614	IMPDH1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
3614	IMPDH1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
3614	IMPDH1	HP:0031609	Geographic atrophy	-	OMIM:180105
3614	IMPDH1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
3614	IMPDH1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
3614	IMPDH1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
3614	IMPDH1	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
3614	IMPDH1	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
3614	IMPDH1	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
3614	IMPDH1	HP:0000518	Cataract	HP:0040282	ORPHA:65
3614	IMPDH1	HP:0000510	Rod-cone dystrophy	-	OMIM:180105
3614	IMPDH1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
3614	IMPDH1	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
3614	IMPDH1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
3614	IMPDH1	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
3614	IMPDH1	HP:0000505	Visual impairment	-	OMIM:613837
3614	IMPDH1	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
3614	IMPDH1	HP:0000575	Scotoma	5/18	OMIM:180100
3614	IMPDH1	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
3614	IMPDH1	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
3614	IMPDH1	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
3614	IMPDH1	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
3614	IMPDH1	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
3614	IMPDH1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
3614	IMPDH1	HP:0000543	Optic disc pallor	1/1	OMIM:180105
3614	IMPDH1	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
3614	IMPDH1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
3614	IMPDH1	HP:0000545	Myopia	-	OMIM:180100
3615	IMPDH2	HP:0003785	Decreased CSF homovanillic acid concentration	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0002451	Limb dystonia	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0007325	Generalized dystonia	HP:0040283	ORPHA:98808
3615	IMPDH2	HP:0001251	Ataxia	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0001249	Intellectual disability	-	ORPHA:98808
3615	IMPDH2	HP:0001370	Rheumatoid arthritis	HP:0040283	ORPHA:98808
3615	IMPDH2	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0002650	Scoliosis	HP:0040283	ORPHA:98808
3615	IMPDH2	HP:0001300	Parkinsonism	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0002601	Paresis of extensor muscles of the big toe	HP:0040283	ORPHA:98808
3615	IMPDH2	HP:0002067	Bradykinesia	HP:0040283	ORPHA:98808
3615	IMPDH2	HP:0002066	Gait ataxia	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0002063	Rigidity	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0003487	Babinski sign	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040283	ORPHA:98808
3615	IMPDH2	HP:0002174	Postural tremor	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0008297	Transient hyperphenylalaninemia	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:98808
3615	IMPDH2	HP:0004373	Focal dystonia	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0000739	Anxiety	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0000716	Depression	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:98808
3615	IMPDH2	HP:0000822	Hypertension	HP:0040283	ORPHA:98808
3615	IMPDH2	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:98808
3615	IMPDH2	HP:0005876	Progressive flexion contractures	HP:0040283	ORPHA:98808
3615	IMPDH2	HP:0045007	Abnormal substantia nigra morphology	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0012378	Fatigue	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0000473	Torticollis	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:98808
3615	IMPDH2	HP:0001761	Pes cavus	HP:0040282	ORPHA:98808
3617	IMPG1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
3617	IMPG1	HP:0001139	Choroideremia	HP:0040282	ORPHA:99000
3617	IMPG1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
3617	IMPG1	HP:0001123	Visual field defect	HP:0040282	ORPHA:99000
3617	IMPG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
3617	IMPG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
3617	IMPG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616151
3617	IMPG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153870
3617	IMPG1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
3617	IMPG1	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
3617	IMPG1	HP:0007677	Vitelliform-like macular lesions	HP:0040281	ORPHA:99000
3617	IMPG1	HP:0007677	Vitelliform-like macular lesions	8/8	OMIM:616151
3617	IMPG1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
3617	IMPG1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
3617	IMPG1	HP:0007641	Dyschromatopsia	-	OMIM:153870
3617	IMPG1	HP:0008179	Decreased Arden ratio of electrooculogram	7/8	OMIM:616151
3617	IMPG1	HP:0003581	Adult onset	8/8	OMIM:616151
3617	IMPG1	HP:0003621	Juvenile onset	8/19	OMIM:180100
3617	IMPG1	HP:0030515	Moderately reduced visual acuity	5/8	OMIM:616151
3617	IMPG1	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
3617	IMPG1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
3617	IMPG1	HP:0000618	Blindness	HP:0040281	ORPHA:791
3617	IMPG1	HP:0000613	Photophobia	HP:0040281	ORPHA:791
3617	IMPG1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
3617	IMPG1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
3617	IMPG1	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
3617	IMPG1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
3617	IMPG1	HP:0000662	Nyctalopia	26/28	OMIM:180100
3617	IMPG1	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
3617	IMPG1	HP:0011463	Childhood onset	3/19	OMIM:180100
3617	IMPG1	HP:0011462	Young adult onset	8/19	OMIM:180100
3617	IMPG1	HP:0030786	Photopsia	HP:0040283	ORPHA:791
3617	IMPG1	HP:0011510	Drusen	-	OMIM:616151
3617	IMPG1	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
3617	IMPG1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
3617	IMPG1	HP:0008001	Foveal hyperpigmentation	-	OMIM:153870
3617	IMPG1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
3617	IMPG1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
3617	IMPG1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
3617	IMPG1	HP:0007754	Macular dystrophy	-	OMIM:153870
3617	IMPG1	HP:0007754	Macular dystrophy	-	OMIM:616151
3617	IMPG1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
3617	IMPG1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
3617	IMPG1	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:99000
3617	IMPG1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
3617	IMPG1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
3617	IMPG1	HP:0007899	Retinal nonattachment	HP:0040283	ORPHA:99000
3617	IMPG1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
3617	IMPG1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
3617	IMPG1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
3617	IMPG1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:99000
3617	IMPG1	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
3617	IMPG1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
3617	IMPG1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
3617	IMPG1	HP:0000505	Visual impairment	HP:0040281	ORPHA:99000
3617	IMPG1	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
3617	IMPG1	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:99000
3617	IMPG1	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
3617	IMPG1	HP:0000575	Scotoma	5/18	OMIM:180100
3617	IMPG1	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
3617	IMPG1	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
3617	IMPG1	HP:0000551	Color vision defect	HP:0040282	ORPHA:99000
3617	IMPG1	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
3617	IMPG1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
3617	IMPG1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
3617	IMPG1	HP:0000545	Myopia	-	OMIM:180100
3621	ING1	HP:0000007	Autosomal recessive inheritance	-	OMIM:275355
3621	ING1	HP:0002860	Squamous cell carcinoma	-	OMIM:275355
3630	INS	HP:0010935	Abnormality of the upper urinary tract	HP:0040283	ORPHA:99885
3630	INS	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:99885
3630	INS	HP:0001270	Motor delay	HP:0040282	ORPHA:99885
3630	INS	HP:0001252	Hypotonia	HP:0040283	ORPHA:99885
3630	INS	HP:0001251	Ataxia	HP:0040283	ORPHA:99885
3630	INS	HP:0001249	Intellectual disability	HP:0040282	ORPHA:99885
3630	INS	HP:0002594	Pancreatic hypoplasia	HP:0040284	ORPHA:552
3630	INS	HP:0002594	Pancreatic hypoplasia	HP:0040283	ORPHA:99885
3630	INS	HP:0001263	Global developmental delay	HP:0040282	ORPHA:99885
3630	INS	HP:0001259	Coma	HP:0040283	ORPHA:99885
3630	INS	HP:0000077	Abnormality of the kidney	HP:0040284	ORPHA:552
3630	INS	HP:0012028	Hepatocellular adenoma	HP:0040284	ORPHA:552
3630	INS	HP:0000007	Autosomal recessive inheritance	-	OMIM:618858
3630	INS	HP:0000006	Autosomal dominant inheritance	-	OMIM:125852
3630	INS	HP:0000006	Autosomal dominant inheritance	-	OMIM:613370
3630	INS	HP:0000006	Autosomal dominant inheritance	-	OMIM:616214
3630	INS	HP:0000006	Autosomal dominant inheritance	-	OMIM:618858
3630	INS	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:99885
3630	INS	HP:0006274	Reduced pancreatic beta cells	HP:0040281	ORPHA:99885
3630	INS	HP:0000119	Abnormality of the genitourinary system	HP:0040284	ORPHA:552
3630	INS	HP:0000124	Renal tubular dysfunction	HP:0040283	ORPHA:99885
3630	INS	HP:0000112	Nephropathy	HP:0040283	ORPHA:552
3630	INS	HP:0000107	Renal cyst	HP:0040284	ORPHA:552
3630	INS	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:99885
3630	INS	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:99885
3630	INS	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:99885
3630	INS	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:99885
3630	INS	HP:0002186	Apraxia	HP:0040283	ORPHA:99885
3630	INS	HP:0008255	Transient neonatal diabetes mellitus	HP:0040283	ORPHA:552
3630	INS	HP:0100651	Type I diabetes mellitus	2/2	OMIM:125852
3630	INS	HP:0100651	Type I diabetes mellitus	-	OMIM:618858
3630	INS	HP:0004924	Abnormal oral glucose tolerance	HP:0040282	ORPHA:552
3630	INS	HP:0004904	Maturity-onset diabetes of the young	-	OMIM:613370
3630	INS	HP:0001944	Dehydration	HP:0040281	ORPHA:99885
3630	INS	HP:0001953	Diabetic ketoacidosis	-	ORPHA:552
3630	INS	HP:0001953	Diabetic ketoacidosis	-	OMIM:618858
3630	INS	HP:0001953	Diabetic ketoacidosis	-	OMIM:613370
3630	INS	HP:0001952	Glucose intolerance	HP:0040282	ORPHA:552
3630	INS	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:552
3630	INS	HP:0003076	Glycosuria	HP:0040282	ORPHA:552
3630	INS	HP:0003076	Glycosuria	HP:0040281	ORPHA:99885
3630	INS	HP:0003074	Hyperglycemia	HP:0040282	ORPHA:552
3630	INS	HP:0003074	Hyperglycemia	-	OMIM:613370
3630	INS	HP:0003074	Hyperglycemia	HP:0040283	OMIM:616214
3630	INS	HP:0003074	Hyperglycemia	HP:0040281	ORPHA:99885
3630	INS	HP:0003074	Hyperglycemia	-	OMIM:618858
3630	INS	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:99885
3630	INS	HP:0005750	Lower-limb joint contracture	HP:0040282	ORPHA:99885
3630	INS	HP:0030795	Reduced C-peptide level	-	OMIM:618858
3630	INS	HP:0030794	Abnormal circulating C-peptide concentration	HP:0040282	ORPHA:552
3630	INS	HP:0000857	Neonatal insulin-dependent diabetes mellitus	HP:0040281	ORPHA:99885
3630	INS	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040283	ORPHA:552
3630	INS	HP:0000842	Hyperinsulinemia	HP:0040283	OMIM:616214
3630	INS	HP:0000819	Diabetes mellitus	-	OMIM:613370
3630	INS	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040283	ORPHA:552
3630	INS	HP:0040214	Abnormal circulating insulin concentration	HP:0040282	ORPHA:552
3630	INS	HP:0040217	Elevated hemoglobin A1c	HP:0040282	ORPHA:552
3630	INS	HP:0040217	Elevated hemoglobin A1c	-	OMIM:618858
3630	INS	HP:0040216	Hypoinsulinemia	HP:0040282	ORPHA:552
3630	INS	HP:0000956	Acanthosis nigricans	-	ORPHA:552
3630	INS	HP:0030057	Autoimmune antibody positivity	-	ORPHA:552
3630	INS	HP:0030057	Autoimmune antibody positivity	-	ORPHA:99885
3630	INS	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:99885
3630	INS	HP:0025502	Overweight	HP:0040283	ORPHA:552
3630	INS	HP:0001508	Failure to thrive	HP:0040281	ORPHA:99885
3630	INS	HP:0001520	Large for gestational age	HP:0040283	ORPHA:552
3630	INS	HP:0001518	Small for gestational age	-	OMIM:618858
3630	INS	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:552
3630	INS	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:99885
3630	INS	HP:0001511	Intrauterine growth retardation	-	OMIM:613370
3630	INS	HP:0001513	Obesity	HP:0040284	ORPHA:552
3630	INS	HP:0002919	Ketonuria	HP:0040282	ORPHA:99885
3630	INS	HP:0000365	Hearing impairment	HP:0040283	ORPHA:99885
3630	INS	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:99885
3630	INS	HP:0001738	Exocrine pancreatic insufficiency	HP:0040284	ORPHA:552
3630	INS	HP:0000488	Retinopathy	HP:0040283	ORPHA:552
3630	INS	HP:0000488	Retinopathy	HP:0040282	ORPHA:99885
3630	INS	HP:0011106	Hypovolemia	HP:0040281	ORPHA:99885
3630	INS	HP:0025708	Early young adult onset	2/2	OMIM:125852
3630	INS	HP:0005487	Prominent metopic ridge	HP:0040282	ORPHA:99885
3630	INS	HP:0001824	Weight loss	HP:0040281	ORPHA:99885
3630	INS	HP:0012594	Moderate albuminuria	HP:0040282	ORPHA:99885
3636	INPPL1	HP:0001182	Tapered finger	HP:0040281	ORPHA:2746
3636	INPPL1	HP:0001156	Brachydactyly	HP:0040281	ORPHA:2746
3636	INPPL1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3636	INPPL1	HP:0001293	Cranial nerve compression	-	OMIM:131300
3636	INPPL1	HP:0001290	Generalized hypotonia	-	OMIM:258480
3636	INPPL1	HP:0001270	Motor delay	4/6	OMIM:258480
3636	INPPL1	HP:0001252	Hypotonia	HP:0040282	ORPHA:2746
3636	INPPL1	HP:0001252	Hypotonia	-	OMIM:258480
3636	INPPL1	HP:0001252	Hypotonia	2/7	OMIM:615777
3636	INPPL1	HP:0001249	Intellectual disability	5/7	OMIM:615777
3636	INPPL1	HP:0001263	Global developmental delay	-	OMIM:615777
3636	INPPL1	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:3144
3636	INPPL1	HP:0002515	Waddling gait	54/102	OMIM:131300
3636	INPPL1	HP:0001387	Joint stiffness	HP:0040283	ORPHA:2746
3636	INPPL1	HP:0001382	Joint hypermobility	-	OMIM:615777
3636	INPPL1	HP:0002677	Small foramen magnum	2/9	OMIM:258480
3636	INPPL1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3636	INPPL1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3144
3636	INPPL1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3636	INPPL1	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:3144
3636	INPPL1	HP:0008873	Disproportionate short-limb short stature	-	OMIM:258480
3636	INPPL1	HP:0002663	Delayed epiphyseal ossification	8/8	OMIM:258480
3636	INPPL1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3636	INPPL1	HP:0001324	Muscle weakness	40/96	OMIM:131300
3636	INPPL1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3636	INPPL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:258480
3636	INPPL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3636	INPPL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3636	INPPL1	HP:0002650	Scoliosis	-	OMIM:258480
3636	INPPL1	HP:0002650	Scoliosis	12/14	OMIM:131300
3636	INPPL1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3636	INPPL1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3636	INPPL1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3636	INPPL1	HP:0008905	Rhizomelia	-	OMIM:258480
3636	INPPL1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3636	INPPL1	HP:0000175	Cleft palate	HP:0040283	ORPHA:3144
3636	INPPL1	HP:0000175	Cleft palate	2/7	OMIM:615777
3636	INPPL1	HP:0005019	Diaphyseal undertubulation	HP:0040283	ORPHA:3144
3636	INPPL1	HP:0012107	Increased fibular diameter	HP:0040281	ORPHA:3144
3636	INPPL1	HP:0000117	Renal phosphate wasting	5/6	OMIM:258480
3636	INPPL1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2746
3636	INPPL1	HP:0002007	Frontal bossing	-	OMIM:258480
3636	INPPL1	HP:0002007	Frontal bossing	HP:0040281	ORPHA:2746
3636	INPPL1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:3144
3636	INPPL1	HP:0003311	Hypoplasia of the odontoid process	2/9	OMIM:258480
3636	INPPL1	HP:0002093	Respiratory insufficiency	8/8	OMIM:258480
3636	INPPL1	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2746
3636	INPPL1	HP:0003388	Easy fatigability	36/76	OMIM:131300
3636	INPPL1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3636	INPPL1	HP:0008108	Advanced tarsal ossification	HP:0040283	ORPHA:3144
3636	INPPL1	HP:0100569	Abnormally ossified vertebrae	HP:0040281	ORPHA:2746
3636	INPPL1	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2746
3636	INPPL1	HP:0002148	Hypophosphatemia	5/6	OMIM:258480
3636	INPPL1	HP:0003577	Congenital onset	9/9	OMIM:258480
3636	INPPL1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:2746
3636	INPPL1	HP:0002205	Recurrent respiratory infections	-	OMIM:258480
3636	INPPL1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:2746
3636	INPPL1	HP:0003510	Severe short stature	7/7	OMIM:615777
3636	INPPL1	HP:0003510	Severe short stature	3/3	OMIM:258480
3636	INPPL1	HP:0003510	Severe short stature	HP:0040281	ORPHA:2746
3636	INPPL1	HP:0001027	Soft, doughy skin	3/6	OMIM:258480
3636	INPPL1	HP:0001004	Lymphedema	HP:0040281	ORPHA:3144
3636	INPPL1	HP:0002315	Headache	-	OMIM:131300
3636	INPPL1	HP:0004976	Knee dislocation	6/7	OMIM:615777
3636	INPPL1	HP:0009803	Short phalanx of finger	9/9	OMIM:258480
3636	INPPL1	HP:0009803	Short phalanx of finger	-	OMIM:615777
3636	INPPL1	HP:0008479	Hypoplastic vertebral bodies	-	OMIM:258480
3636	INPPL1	HP:0008479	Hypoplastic vertebral bodies	HP:0040281	ORPHA:2746
3636	INPPL1	HP:0008479	Hypoplastic vertebral bodies	HP:0040281	ORPHA:3144
3636	INPPL1	HP:0009763	Limb pain	63/92	OMIM:131300
3636	INPPL1	HP:0003621	Juvenile onset	-	OMIM:131300
3636	INPPL1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3636	INPPL1	HP:0004279	Short palm	9/9	OMIM:258480
3636	INPPL1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3636	INPPL1	HP:0000637	Long palpebral fissure	2/5	OMIM:258480
3636	INPPL1	HP:6001056	Out-toeing	-	OMIM:131300
3636	INPPL1	HP:0000651	Diplopia	-	OMIM:131300
3636	INPPL1	HP:0001956	Truncal obesity	2/7	OMIM:615777
3636	INPPL1	HP:0001903	Anemia	HP:0040283	OMIM:131300
3636	INPPL1	HP:0010049	Short metacarpal	-	OMIM:615777
3636	INPPL1	HP:0010049	Short metacarpal	9/9	OMIM:258480
3636	INPPL1	HP:0000678	Dental crowding	-	OMIM:615777
3636	INPPL1	HP:0000670	Carious teeth	-	OMIM:131300
3636	INPPL1	HP:0011304	Broad thumb	2/7	OMIM:615777
3636	INPPL1	HP:0011304	Broad thumb	HP:0040283	ORPHA:2746
3636	INPPL1	HP:0000668	Hypodontia	-	OMIM:615777
3636	INPPL1	HP:0000664	Synophrys	-	OMIM:615777
3636	INPPL1	HP:0005616	Accelerated skeletal maturation	HP:0040283	ORPHA:3144
3636	INPPL1	HP:0004396	Poor appetite	-	OMIM:131300
3636	INPPL1	HP:0003038	Fibular hypoplasia	HP:0040281	ORPHA:3144
3636	INPPL1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3636	INPPL1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3636	INPPL1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3636	INPPL1	HP:0003026	Short long bone	7/7	OMIM:615777
3636	INPPL1	HP:0003026	Short long bone	9/9	OMIM:258480
3636	INPPL1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3636	INPPL1	HP:0003021	Metaphyseal cupping	9/9	OMIM:258480
3636	INPPL1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3636	INPPL1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:2746
3636	INPPL1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3636	INPPL1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3636	INPPL1	HP:0000750	Delayed speech and language development	-	OMIM:615777
3636	INPPL1	HP:0011461	Fetal onset	7/7	OMIM:615777
3636	INPPL1	HP:0000774	Narrow chest	HP:0040281	ORPHA:3144
3636	INPPL1	HP:0000774	Narrow chest	2/7	OMIM:615777
3636	INPPL1	HP:0000774	Narrow chest	-	OMIM:258480
3636	INPPL1	HP:0000774	Narrow chest	HP:0040283	ORPHA:2746
3636	INPPL1	HP:0000773	Short ribs	HP:0040281	ORPHA:3144
3636	INPPL1	HP:0003196	Short nose	9/9	OMIM:258480
3636	INPPL1	HP:0003196	Short nose	HP:0040281	ORPHA:2746
3636	INPPL1	HP:0000926	Platyspondyly	1/7	OMIM:615777
3636	INPPL1	HP:0000922	Posterior rib cupping	-	OMIM:258480
3636	INPPL1	HP:0003177	Squared iliac bones	2/9	OMIM:258480
3636	INPPL1	HP:0003177	Squared iliac bones	HP:0040281	ORPHA:2746
3636	INPPL1	HP:0003175	Hypoplastic ischia	-	OMIM:258480
3636	INPPL1	HP:0003175	Hypoplastic ischia	HP:0040281	ORPHA:2746
3636	INPPL1	HP:0003173	Hypoplastic pubic bone	1/9	OMIM:258480
3636	INPPL1	HP:0003173	Hypoplastic pubic bone	HP:0040281	ORPHA:2746
3636	INPPL1	HP:0003180	Flat acetabular roof	-	OMIM:615777
3636	INPPL1	HP:0003180	Flat acetabular roof	-	OMIM:258480
3636	INPPL1	HP:0000907	Anterior rib cupping	-	OMIM:258480
3636	INPPL1	HP:0004482	Relative macrocephaly	3/8	OMIM:258480
3636	INPPL1	HP:0004482	Relative macrocephaly	-	OMIM:615777
3636	INPPL1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3636	INPPL1	HP:0000882	Hypoplastic scapulae	HP:0040281	ORPHA:3144
3636	INPPL1	HP:0000823	Delayed puberty	-	OMIM:131300
3636	INPPL1	HP:0000895	Lateral clavicle hook	HP:0040281	ORPHA:3144
3636	INPPL1	HP:0000894	Short clavicles	-	OMIM:615777
3636	INPPL1	HP:0004565	Severe platyspondyly	3/3	OMIM:258480
3636	INPPL1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3636	INPPL1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3636	INPPL1	HP:0000969	Edema	-	OMIM:258480
3636	INPPL1	HP:0000947	Dumbbell-shaped long bone	HP:0040283	ORPHA:3144
3636	INPPL1	HP:0000946	Hypoplastic ilia	HP:0040281	ORPHA:3144
3636	INPPL1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:3144
3636	INPPL1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2746
3636	INPPL1	HP:0000286	Epicanthus	1/7	OMIM:615777
3636	INPPL1	HP:0000280	Coarse facial features	2/7	OMIM:615777
3636	INPPL1	HP:0001591	Bell-shaped thorax	-	OMIM:258480
3636	INPPL1	HP:0000256	Macrocephaly	5/13	OMIM:258480
3636	INPPL1	HP:0000256	Macrocephaly	HP:0040281	ORPHA:3144
3636	INPPL1	HP:0000256	Macrocephaly	HP:0040281	ORPHA:2746
3636	INPPL1	HP:0000272	Malar flattening	HP:0040281	ORPHA:3144
3636	INPPL1	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:3144
3636	INPPL1	HP:0002827	Hip dislocation	3/7	OMIM:615777
3636	INPPL1	HP:0000239	Large fontanelles	7/7	OMIM:258480
3636	INPPL1	HP:0000239	Large fontanelles	HP:0040281	ORPHA:2746
3636	INPPL1	HP:0000252	Microcephaly	-	OMIM:615777
3636	INPPL1	HP:0001562	Oligohydramnios	1/13	OMIM:258480
3636	INPPL1	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:3144
3636	INPPL1	HP:0001561	Polyhydramnios	-	OMIM:258480
3636	INPPL1	HP:0002857	Genu valgum	-	OMIM:131300
3636	INPPL1	HP:0001538	Protuberant abdomen	-	OMIM:258480
3636	INPPL1	HP:0001533	Slender build	-	OMIM:131300
3636	INPPL1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3636	INPPL1	HP:0007807	Optic nerve compression	-	OMIM:131300
3636	INPPL1	HP:0012368	Flat face	7/7	OMIM:615777
3636	INPPL1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3636	INPPL1	HP:0000365	Hearing impairment	10/67	OMIM:131300
3636	INPPL1	HP:0000358	Posteriorly rotated ears	1/5	OMIM:258480
3636	INPPL1	HP:0000369	Low-set ears	1/6	OMIM:258480
3636	INPPL1	HP:0000343	Long philtrum	-	OMIM:258480
3636	INPPL1	HP:0000343	Long philtrum	1/7	OMIM:615777
3636	INPPL1	HP:0011001	Increased bone mineral density	-	OMIM:131300
3636	INPPL1	HP:0000348	High forehead	7/9	OMIM:258480
3636	INPPL1	HP:0002983	Micromelia	HP:0040281	ORPHA:3144
3636	INPPL1	HP:0000316	Hypertelorism	6/8	OMIM:258480
3636	INPPL1	HP:0000311	Round face	2/7	OMIM:615777
3636	INPPL1	HP:0002970	Genu varum	-	OMIM:615777
3636	INPPL1	HP:0000303	Mandibular prognathia	-	OMIM:131300
3636	INPPL1	HP:0005280	Depressed nasal bridge	8/8	OMIM:258480
3636	INPPL1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3636	INPPL1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:2746
3636	INPPL1	HP:0000463	Anteverted nares	-	OMIM:258480
3636	INPPL1	HP:0000470	Short neck	-	OMIM:258480
3636	INPPL1	HP:0000470	Short neck	HP:0040281	ORPHA:3144
3636	INPPL1	HP:0000470	Short neck	1/7	OMIM:615777
3636	INPPL1	HP:0001773	Short foot	9/9	OMIM:258480
3636	INPPL1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3636	INPPL1	HP:0001763	Pes planus	1/7	OMIM:615777
3636	INPPL1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:2746
3636	INPPL1	HP:0005469	Flat occiput	HP:0040282	ORPHA:2746
3636	INPPL1	HP:0001840	Metatarsus adductus	-	OMIM:615777
3636	INPPL1	HP:0000520	Proptosis	2/4	OMIM:131300
3636	INPPL1	HP:0000520	Proptosis	7/7	OMIM:615777
3636	INPPL1	HP:0000520	Proptosis	7/8	OMIM:258480
3636	INPPL1	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:3144
3636	INPPL1	HP:0000592	Blue sclerae	2/7	OMIM:615777
3636	INPPL1	HP:0000592	Blue sclerae	HP:0040283	ORPHA:2746
3636	INPPL1	HP:0000586	Shallow orbits	7/8	OMIM:258480
3636	INPPL1	HP:0011220	Prominent forehead	7/9	OMIM:258480
3636	INPPL1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3636	INPPL1	HP:0012514	Lower limb pain	4/4	OMIM:131300
3640	INSL3	HP:0000028	Cryptorchidism	-	OMIM:219050
3640	INSL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:219050
3640	INSL3	HP:0000104	Renal agenesis	-	OMIM:219050
3640	INSL3	HP:0012741	Unilateral cryptorchidism	-	OMIM:219050
3643	INSR	HP:0001176	Large hands	HP:0040283	ORPHA:508
3643	INSR	HP:0001176	Large hands	-	OMIM:246200
3643	INSR	HP:0007305	CNS demyelination	HP:0040283	ORPHA:769
3643	INSR	HP:0003758	Reduced subcutaneous adipose tissue	HP:0040281	ORPHA:508
3643	INSR	HP:0003758	Reduced subcutaneous adipose tissue	HP:0040282	ORPHA:769
3643	INSR	HP:0001250	Seizure	HP:0040282	ORPHA:263458
3643	INSR	HP:0001249	Intellectual disability	HP:0040282	ORPHA:769
3643	INSR	HP:0001249	Intellectual disability	HP:0040282	ORPHA:508
3643	INSR	HP:0001263	Global developmental delay	HP:0040282	ORPHA:769
3643	INSR	HP:0001263	Global developmental delay	-	OMIM:262190
3643	INSR	HP:0001259	Coma	HP:0040283	ORPHA:263458
3643	INSR	HP:0007440	Generalized hyperpigmentation	HP:0040281	ORPHA:2297
3643	INSR	HP:0100874	Thick hair	HP:0040282	ORPHA:769
3643	INSR	HP:0100879	Enlarged ovaries	HP:0040283	ORPHA:508
3643	INSR	HP:0100879	Enlarged ovaries	HP:0040282	ORPHA:769
3643	INSR	HP:0008665	Clitoral hypertrophy	-	OMIM:262190
3643	INSR	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:508
3643	INSR	HP:0008665	Clitoral hypertrophy	1/1	OMIM:246200
3643	INSR	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:769
3643	INSR	HP:0000065	Labial hypertrophy	HP:0040282	ORPHA:508
3643	INSR	HP:0000065	Labial hypertrophy	1/1	OMIM:246200
3643	INSR	HP:0001396	Cholestasis	-	OMIM:246200
3643	INSR	HP:0001395	Hepatic fibrosis	-	OMIM:246200
3643	INSR	HP:0000040	Long penis	-	OMIM:262190
3643	INSR	HP:0000040	Long penis	-	OMIM:246200
3643	INSR	HP:0000040	Long penis	HP:0040282	ORPHA:508
3643	INSR	HP:0000040	Long penis	HP:0040282	ORPHA:769
3643	INSR	HP:0008897	Postnatal growth retardation	1/1	OMIM:246200
3643	INSR	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:508
3643	INSR	HP:0008887	Adipose tissue loss	-	OMIM:246200
3643	INSR	HP:0008850	Severe postnatal growth retardation	HP:0040282	ORPHA:769
3643	INSR	HP:0008846	Severe intrauterine growth retardation	HP:0040281	ORPHA:508
3643	INSR	HP:0001325	Hypoglycemic coma	8/10	OMIM:609968
3643	INSR	HP:0000007	Autosomal recessive inheritance	-	OMIM:246200
3643	INSR	HP:0000007	Autosomal recessive inheritance	-	OMIM:262190
3643	INSR	HP:0000006	Autosomal dominant inheritance	-	OMIM:609968
3643	INSR	HP:0000179	Thick lower lip vermilion	-	OMIM:246200
3643	INSR	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:769
3643	INSR	HP:0000158	Macroglossia	HP:0040283	ORPHA:769
3643	INSR	HP:0000138	Ovarian cyst	1/1	OMIM:246200
3643	INSR	HP:0000154	Wide mouth	-	OMIM:246200
3643	INSR	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:2297
3643	INSR	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:508
3643	INSR	HP:0006288	Advanced eruption of teeth	-	OMIM:262190
3643	INSR	HP:0006288	Advanced eruption of teeth	HP:0040283	ORPHA:769
3643	INSR	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:508
3643	INSR	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:769
3643	INSR	HP:0000105	Enlarged kidney	HP:0040282	ORPHA:508
3643	INSR	HP:0000105	Enlarged kidney	2/3	OMIM:246200
3643	INSR	HP:0002750	Delayed skeletal maturation	-	OMIM:246200
3643	INSR	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:769
3643	INSR	HP:0002719	Recurrent infections	-	OMIM:246200
3643	INSR	HP:0002719	Recurrent infections	HP:0040282	ORPHA:769
3643	INSR	HP:0002035	Rectal prolapse	1/3	OMIM:246200
3643	INSR	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:508
3643	INSR	HP:0005978	Type II diabetes mellitus	HP:0040281	ORPHA:2297
3643	INSR	HP:0030948	Elevated gamma-glutamyltransferase level	3/3	OMIM:246200
3643	INSR	HP:0010442	Polydactyly	HP:0040283	ORPHA:769
3643	INSR	HP:0040270	Impaired glucose tolerance	HP:0040283	ORPHA:769
3643	INSR	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:508
3643	INSR	HP:0002150	Hypercalciuria	HP:0040283	ORPHA:508
3643	INSR	HP:0002164	Nail dysplasia	-	OMIM:246200
3643	INSR	HP:0002173	Hypoglycemic seizures	5/10	OMIM:609968
3643	INSR	HP:0008283	Fasting hyperinsulinemia	HP:0040281	ORPHA:263458
3643	INSR	HP:0008283	Fasting hyperinsulinemia	10/10	OMIM:609968
3643	INSR	HP:0008283	Fasting hyperinsulinemia	HP:0040282	ORPHA:769
3643	INSR	HP:0003577	Congenital onset	2/3	OMIM:246200
3643	INSR	HP:0002240	Hepatomegaly	1/3	OMIM:246200
3643	INSR	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:508
3643	INSR	HP:0002219	Facial hypertrichosis	HP:0040282	ORPHA:508
3643	INSR	HP:0002216	Premature graying of hair	HP:0040283	ORPHA:769
3643	INSR	HP:0002230	Generalized hirsutism	HP:0040281	ORPHA:2297
3643	INSR	HP:0011998	Postprandial hyperglycemia	HP:0040281	ORPHA:508
3643	INSR	HP:0011998	Postprandial hyperglycemia	-	OMIM:262190
3643	INSR	HP:0011998	Postprandial hyperglycemia	HP:0040282	ORPHA:769
3643	INSR	HP:0011998	Postprandial hyperglycemia	-	OMIM:246200
3643	INSR	HP:0025024	Megarectum	HP:0040283	ORPHA:508
3643	INSR	HP:0001034	Hypermelanotic macule	-	OMIM:246200
3643	INSR	HP:0001007	Hirsutism	3/3	OMIM:246200
3643	INSR	HP:0001007	Hirsutism	HP:0040282	ORPHA:769
3643	INSR	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:769
3643	INSR	HP:0001072	Thickened skin	HP:0040283	ORPHA:508
3643	INSR	HP:0003623	Neonatal onset	1/3	OMIM:246200
3643	INSR	HP:0003621	Juvenile onset	6/10	OMIM:609968
3643	INSR	HP:0004914	Recurrent infantile hypoglycemia	HP:0040282	ORPHA:508
3643	INSR	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:263458
3643	INSR	HP:0001943	Hypoglycemia	-	OMIM:262190
3643	INSR	HP:0001959	Polydipsia	HP:0040283	ORPHA:769
3643	INSR	HP:0001953	Diabetic ketoacidosis	-	OMIM:262190
3643	INSR	HP:0001953	Diabetic ketoacidosis	HP:0040283	ORPHA:769
3643	INSR	HP:0012686	Increased pineal volume	HP:0040283	ORPHA:769
3643	INSR	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:508
3643	INSR	HP:0000678	Dental crowding	HP:0040282	ORPHA:769
3643	INSR	HP:0001988	Recurrent hypoglycemia	1/1	OMIM:246200
3643	INSR	HP:0001988	Recurrent hypoglycemia	HP:0040281	ORPHA:263458
3643	INSR	HP:0004325	Decreased body weight	HP:0040282	ORPHA:508
3643	INSR	HP:0004322	Short stature	HP:0040282	ORPHA:769
3643	INSR	HP:0004322	Short stature	-	OMIM:262190
3643	INSR	HP:0005616	Accelerated skeletal maturation	HP:0040281	ORPHA:2297
3643	INSR	HP:0003074	Hyperglycemia	-	OMIM:262190
3643	INSR	HP:0003074	Hyperglycemia	-	OMIM:246200
3643	INSR	HP:0011463	Childhood onset	1/10	OMIM:609968
3643	INSR	HP:0011462	Young adult onset	3/10	OMIM:609968
3643	INSR	HP:0004428	Elfin facies	-	OMIM:246200
3643	INSR	HP:0004405	Prominent nipples	HP:0040282	ORPHA:508
3643	INSR	HP:0004405	Prominent nipples	3/3	OMIM:246200
3643	INSR	HP:0030796	Increased C-peptide level	HP:0040282	ORPHA:769
3643	INSR	HP:0030796	Increased C-peptide level	2/2	OMIM:246200
3643	INSR	HP:0030794	Abnormal circulating C-peptide concentration	HP:0040281	ORPHA:263458
3643	INSR	HP:0003162	Fasting hypoglycemia	-	OMIM:262190
3643	INSR	HP:0003162	Fasting hypoglycemia	-	OMIM:246200
3643	INSR	HP:0003162	Fasting hypoglycemia	HP:0040281	ORPHA:508
3643	INSR	HP:0003162	Fasting hypoglycemia	HP:0040282	ORPHA:769
3643	INSR	HP:0000859	Increased circulating aldosterone concentration	HP:0040283	ORPHA:508
3643	INSR	HP:0000855	Insulin resistance	HP:0040281	ORPHA:508
3643	INSR	HP:0000855	Insulin resistance	HP:0040282	ORPHA:769
3643	INSR	HP:0000855	Insulin resistance	HP:0040283	ORPHA:263458
3643	INSR	HP:0000831	Insulin-resistant diabetes mellitus	-	OMIM:262190
3643	INSR	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040282	ORPHA:769
3643	INSR	HP:0000848	Increased circulating renin concentration	HP:0040283	ORPHA:508
3643	INSR	HP:0000842	Hyperinsulinemia	-	OMIM:262190
3643	INSR	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:508
3643	INSR	HP:0000842	Hyperinsulinemia	3/3	OMIM:246200
3643	INSR	HP:0000826	Precocious puberty	-	OMIM:262190
3643	INSR	HP:0000826	Precocious puberty	-	OMIM:246200
3643	INSR	HP:0000826	Precocious puberty	HP:0040283	ORPHA:769
3643	INSR	HP:0000825	Hyperinsulinemic hypoglycemia	10/10	OMIM:609968
3643	INSR	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040280	ORPHA:263458
3643	INSR	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:769
3643	INSR	HP:0000823	Delayed puberty	HP:0040281	ORPHA:2297
3643	INSR	HP:0003247	Overgrowth of external genitalia	HP:0040282	ORPHA:508
3643	INSR	HP:0003202	Skeletal muscle atrophy	-	OMIM:246200
3643	INSR	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:508
3643	INSR	HP:0004510	Pancreatic islet-cell hyperplasia	-	OMIM:246200
3643	INSR	HP:0034384	Elevated circulating insulin:C-peptide ratio	10/10	OMIM:609968
3643	INSR	HP:0003270	Abdominal distention	1/3	OMIM:246200
3643	INSR	HP:0003270	Abdominal distention	HP:0040282	ORPHA:508
3643	INSR	HP:0000998	Hypertrichosis	3/3	OMIM:246200
3643	INSR	HP:0000998	Hypertrichosis	-	OMIM:262190
3643	INSR	HP:0000998	Hypertrichosis	HP:0040281	ORPHA:508
3643	INSR	HP:0000998	Hypertrichosis	HP:0040282	ORPHA:769
3643	INSR	HP:0000974	Hyperextensible skin	HP:0040283	ORPHA:508
3643	INSR	HP:0000958	Dry skin	-	OMIM:262190
3643	INSR	HP:0000958	Dry skin	HP:0040282	ORPHA:769
3643	INSR	HP:0000956	Acanthosis nigricans	-	OMIM:262190
3643	INSR	HP:0000956	Acanthosis nigricans	HP:0040282	ORPHA:508
3643	INSR	HP:0000956	Acanthosis nigricans	2/3	OMIM:246200
3643	INSR	HP:0000956	Acanthosis nigricans	HP:0040282	ORPHA:769
3643	INSR	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:2297
3643	INSR	HP:0000962	Hyperkeratosis	-	OMIM:246200
3643	INSR	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:508
3643	INSR	HP:0000280	Coarse facial features	3/3	OMIM:246200
3643	INSR	HP:0000280	Coarse facial features	-	OMIM:262190
3643	INSR	HP:0000280	Coarse facial features	HP:0040283	ORPHA:769
3643	INSR	HP:0000294	Low anterior hairline	HP:0040283	ORPHA:769
3643	INSR	HP:0000274	Small face	-	OMIM:246200
3643	INSR	HP:0030088	Increased serum testosterone level	HP:0040282	ORPHA:769
3643	INSR	HP:0000252	Microcephaly	HP:0040283	ORPHA:508
3643	INSR	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:769
3643	INSR	HP:0000218	High palate	HP:0040283	ORPHA:769
3643	INSR	HP:0000218	High palate	-	OMIM:262190
3643	INSR	HP:0000212	Gingival overgrowth	-	OMIM:246200
3643	INSR	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:769
3643	INSR	HP:0001561	Polyhydramnios	1/1	OMIM:246200
3643	INSR	HP:0001508	Failure to thrive	3/3	OMIM:246200
3643	INSR	HP:0001508	Failure to thrive	HP:0040282	ORPHA:508
3643	INSR	HP:0001518	Small for gestational age	-	OMIM:262190
3643	INSR	HP:0001511	Intrauterine growth retardation	3/3	OMIM:246200
3643	INSR	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:769
3643	INSR	HP:0012378	Fatigue	HP:0040282	ORPHA:263458
3643	INSR	HP:0002908	Conjugated hyperbilirubinemia	3/3	OMIM:246200
3643	INSR	HP:0002900	Hypokalemia	HP:0040283	ORPHA:508
3643	INSR	HP:0002900	Hypokalemia	HP:0040283	ORPHA:769
3643	INSR	HP:0000369	Low-set ears	-	OMIM:246200
3643	INSR	HP:0000369	Low-set ears	HP:0040283	ORPHA:508
3643	INSR	HP:0031452	Lichenoid skin lesion	HP:0040282	ORPHA:769
3643	INSR	HP:0000316	Hypertelorism	HP:0040283	ORPHA:508
3643	INSR	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:769
3643	INSR	HP:0001639	Hypertrophic cardiomyopathy	3/3	OMIM:246200
3643	INSR	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:508
3643	INSR	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:769
3643	INSR	HP:0000307	Pointed chin	HP:0040283	ORPHA:508
3643	INSR	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:769
3643	INSR	HP:0000303	Mandibular prognathia	-	OMIM:262190
3643	INSR	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:769
3643	INSR	HP:0000403	Recurrent otitis media	1/3	OMIM:246200
3643	INSR	HP:0000400	Macrotia	-	OMIM:246200
3643	INSR	HP:0000400	Macrotia	HP:0040283	ORPHA:769
3643	INSR	HP:0001712	Left ventricular hypertrophy	3/3	OMIM:246200
3643	INSR	HP:0012471	Thick vermilion border	3/3	OMIM:246200
3643	INSR	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:508
3643	INSR	HP:0000488	Retinopathy	HP:0040283	ORPHA:769
3643	INSR	HP:0000463	Anteverted nares	HP:0040283	ORPHA:769
3643	INSR	HP:0000445	Wide nose	HP:0040283	ORPHA:508
3643	INSR	HP:0000445	Wide nose	HP:0040283	ORPHA:769
3643	INSR	HP:0012408	Medullary nephrocalcinosis	1/1	OMIM:246200
3643	INSR	HP:0000411	Protruding ear	HP:0040283	ORPHA:508
3643	INSR	HP:0001744	Splenomegaly	1/3	OMIM:246200
3643	INSR	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:769
3643	INSR	HP:0000520	Proptosis	3/3	OMIM:246200
3643	INSR	HP:0001833	Long foot	-	OMIM:246200
3643	INSR	HP:0001833	Long foot	HP:0040283	ORPHA:508
3643	INSR	HP:0030348	Increased circulating androgen concentration	HP:0040282	ORPHA:769
3643	INSR	HP:0012542	Onychauxis	-	OMIM:262190
3643	INSR	HP:0012542	Onychauxis	HP:0040282	ORPHA:769
3651	PDX1	HP:0010935	Abnormality of the upper urinary tract	HP:0040283	ORPHA:99885
3651	PDX1	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:99885
3651	PDX1	HP:0100801	Pancreatic aplasia	1/1	OMIM:260370
3651	PDX1	HP:0001270	Motor delay	HP:0040282	ORPHA:99885
3651	PDX1	HP:0001252	Hypotonia	HP:0040283	ORPHA:99885
3651	PDX1	HP:0001251	Ataxia	HP:0040283	ORPHA:99885
3651	PDX1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:99885
3651	PDX1	HP:0002594	Pancreatic hypoplasia	HP:0040284	ORPHA:552
3651	PDX1	HP:0002594	Pancreatic hypoplasia	1/1	OMIM:260370
3651	PDX1	HP:0002594	Pancreatic hypoplasia	HP:0040283	ORPHA:99885
3651	PDX1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:99885
3651	PDX1	HP:0001259	Coma	HP:0040283	ORPHA:99885
3651	PDX1	HP:0000077	Abnormality of the kidney	HP:0040284	ORPHA:552
3651	PDX1	HP:0012028	Hepatocellular adenoma	HP:0040284	ORPHA:552
3651	PDX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:260370
3651	PDX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:606392
3651	PDX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
3651	PDX1	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:99885
3651	PDX1	HP:0006274	Reduced pancreatic beta cells	HP:0040281	ORPHA:99885
3651	PDX1	HP:0000119	Abnormality of the genitourinary system	HP:0040284	ORPHA:552
3651	PDX1	HP:0000124	Renal tubular dysfunction	HP:0040283	ORPHA:99885
3651	PDX1	HP:0000112	Nephropathy	HP:0040283	ORPHA:552
3651	PDX1	HP:0000107	Renal cyst	HP:0040284	ORPHA:552
3651	PDX1	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:99885
3651	PDX1	HP:0005978	Type II diabetes mellitus	-	OMIM:606392
3651	PDX1	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
3651	PDX1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:99885
3651	PDX1	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:99885
3651	PDX1	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:99885
3651	PDX1	HP:0002186	Apraxia	HP:0040283	ORPHA:99885
3651	PDX1	HP:0008255	Transient neonatal diabetes mellitus	HP:0040283	ORPHA:552
3651	PDX1	HP:0003577	Congenital onset	1/1	OMIM:260370
3651	PDX1	HP:0003584	Late onset	-	OMIM:125853
3651	PDX1	HP:0004924	Abnormal oral glucose tolerance	HP:0040282	ORPHA:552
3651	PDX1	HP:0004904	Maturity-onset diabetes of the young	-	OMIM:606392
3651	PDX1	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
3651	PDX1	HP:0001944	Dehydration	HP:0040281	ORPHA:99885
3651	PDX1	HP:0001953	Diabetic ketoacidosis	-	ORPHA:552
3651	PDX1	HP:0001952	Glucose intolerance	HP:0040282	ORPHA:552
3651	PDX1	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:552
3651	PDX1	HP:0003076	Glycosuria	HP:0040282	ORPHA:552
3651	PDX1	HP:0003076	Glycosuria	HP:0040281	ORPHA:99885
3651	PDX1	HP:0003074	Hyperglycemia	HP:0040282	ORPHA:552
3651	PDX1	HP:0003074	Hyperglycemia	HP:0040281	ORPHA:99885
3651	PDX1	HP:0011461	Fetal onset	2/2	OMIM:260370
3651	PDX1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:99885
3651	PDX1	HP:0005750	Lower-limb joint contracture	HP:0040282	ORPHA:99885
3651	PDX1	HP:0030795	Reduced C-peptide level	1/1	OMIM:260370
3651	PDX1	HP:0030794	Abnormal circulating C-peptide concentration	HP:0040282	ORPHA:552
3651	PDX1	HP:0000855	Insulin resistance	-	OMIM:125853
3651	PDX1	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1/1	OMIM:260370
3651	PDX1	HP:0000857	Neonatal insulin-dependent diabetes mellitus	HP:0040281	ORPHA:99885
3651	PDX1	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040283	ORPHA:552
3651	PDX1	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040283	ORPHA:552
3651	PDX1	HP:0040214	Abnormal circulating insulin concentration	HP:0040282	ORPHA:552
3651	PDX1	HP:0040217	Elevated hemoglobin A1c	HP:0040282	ORPHA:552
3651	PDX1	HP:0040216	Hypoinsulinemia	HP:0040282	ORPHA:552
3651	PDX1	HP:0000956	Acanthosis nigricans	-	ORPHA:552
3651	PDX1	HP:0030057	Autoimmune antibody positivity	-	ORPHA:552
3651	PDX1	HP:0030057	Autoimmune antibody positivity	-	ORPHA:99885
3651	PDX1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:99885
3651	PDX1	HP:0001562	Oligohydramnios	1/1	OMIM:260370
3651	PDX1	HP:0025502	Overweight	HP:0040283	ORPHA:552
3651	PDX1	HP:0001508	Failure to thrive	1/1	OMIM:260370
3651	PDX1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:99885
3651	PDX1	HP:0001520	Large for gestational age	HP:0040283	ORPHA:552
3651	PDX1	HP:0001511	Intrauterine growth retardation	2/2	OMIM:260370
3651	PDX1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:552
3651	PDX1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:99885
3651	PDX1	HP:0001513	Obesity	HP:0040284	ORPHA:552
3651	PDX1	HP:0002919	Ketonuria	HP:0040282	ORPHA:99885
3651	PDX1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:99885
3651	PDX1	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:99885
3651	PDX1	HP:0001738	Exocrine pancreatic insufficiency	HP:0040284	ORPHA:552
3651	PDX1	HP:0001738	Exocrine pancreatic insufficiency	1/1	OMIM:260370
3651	PDX1	HP:0000488	Retinopathy	HP:0040283	ORPHA:552
3651	PDX1	HP:0000488	Retinopathy	HP:0040282	ORPHA:99885
3651	PDX1	HP:0011106	Hypovolemia	HP:0040281	ORPHA:99885
3651	PDX1	HP:0005487	Prominent metopic ridge	HP:0040282	ORPHA:99885
3651	PDX1	HP:0001824	Weight loss	HP:0040281	ORPHA:99885
3651	PDX1	HP:0012594	Moderate albuminuria	HP:0040282	ORPHA:99885
3653	IPW	HP:0001159	Syndactyly	HP:0040283	OMIM:176270
3653	IPW	HP:0007328	Impaired pain sensation	HP:0040282	OMIM:176270
3653	IPW	HP:0003745	Sporadic	-	OMIM:176270
3653	IPW	HP:0001290	Generalized hypotonia	HP:0040281	OMIM:176270
3653	IPW	HP:0001270	Motor delay	HP:0040281	OMIM:176270
3653	IPW	HP:0001250	Seizure	31/154	OMIM:176270
3653	IPW	HP:0001249	Intellectual disability	12/12	OMIM:176270
3653	IPW	HP:0002591	Polyphagia	105/165	OMIM:176270
3653	IPW	HP:0001263	Global developmental delay	HP:0040281	OMIM:176270
3653	IPW	HP:0001262	Excessive daytime somnolence	8/12	OMIM:176270
3653	IPW	HP:0000064	Hypoplastic labia minora	HP:0040282	OMIM:176270
3653	IPW	HP:0000060	Clitoral hypoplasia	HP:0040282	OMIM:176270
3653	IPW	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	OMIM:176270
3653	IPW	HP:0000046	Small scrotum	-	OMIM:176270
3653	IPW	HP:0000054	Micropenis	HP:0040282	OMIM:176270
3653	IPW	HP:0001385	Hip dysplasia	27/90	OMIM:176270
3653	IPW	HP:0000028	Cryptorchidism	118/130	OMIM:176270
3653	IPW	HP:0008872	Feeding difficulties in infancy	HP:0040281	OMIM:176270
3653	IPW	HP:0007513	Generalized hypopigmentation	-	OMIM:176270
3653	IPW	HP:0001328	Specific learning disability	HP:0040281	OMIM:176270
3653	IPW	HP:0000006	Autosomal dominant inheritance	-	OMIM:176270
3653	IPW	HP:0002650	Scoliosis	150/180	OMIM:176270
3653	IPW	HP:0001319	Neonatal hypotonia	244/244	OMIM:176270
3653	IPW	HP:0002791	Hypoventilation	-	OMIM:176270
3653	IPW	HP:0002714	Downturned corners of mouth	HP:0040282	OMIM:176270
3653	IPW	HP:0002033	Poor suck	HP:0040281	OMIM:176270
3653	IPW	HP:0005968	Temperature instability	HP:0040283	OMIM:176270
3653	IPW	HP:0005978	Type II diabetes mellitus	12/82	OMIM:176270
3653	IPW	HP:0030919	Low 5-minute APGAR score	14/244	OMIM:176270
3653	IPW	HP:0030918	Low 1-minute APGAR score	55/244	OMIM:176270
3653	IPW	HP:0009466	Radial deviation of finger	HP:0040283	OMIM:176270
3653	IPW	HP:0002155	Hypertriglyceridemia	10/66	OMIM:176270
3653	IPW	HP:0002119	Ventriculomegaly	HP:0040282	OMIM:176270
3653	IPW	HP:0010535	Sleep apnea	HP:0040282	OMIM:176270
3653	IPW	HP:0003577	Congenital onset	98/244	OMIM:176270
3653	IPW	HP:0002236	Frontal upsweep of hair	HP:0040283	OMIM:176270
3653	IPW	HP:0100716	Self-injurious behavior	50/62	OMIM:176270
3653	IPW	HP:0002205	Recurrent respiratory infections	HP:0040282	OMIM:176270
3653	IPW	HP:0007010	Poor fine motor coordination	HP:0040283	OMIM:176270
3653	IPW	HP:0007015	Poor gross motor coordination	-	OMIM:176270
3653	IPW	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	OMIM:176270
3653	IPW	HP:0002360	Sleep abnormality	HP:0040282	OMIM:176270
3653	IPW	HP:0200055	Small hand	-	OMIM:176270
3653	IPW	HP:0033454	Tube feeding	216/244	OMIM:176270
3653	IPW	HP:0031878	Acromicria	-	OMIM:176270
3653	IPW	HP:0004283	Narrow palm	HP:0040281	OMIM:176270
3653	IPW	HP:0004279	Short palm	HP:0040281	OMIM:176270
3653	IPW	HP:0000670	Carious teeth	HP:0040283	OMIM:176270
3653	IPW	HP:0004322	Short stature	HP:0040281	OMIM:176270
3653	IPW	HP:0012743	Abdominal obesity	-	OMIM:176270
3653	IPW	HP:0000750	Delayed speech and language development	HP:0040281	OMIM:176270
3653	IPW	HP:0000717	Autism	210/786	OMIM:176270
3653	IPW	HP:0000709	Psychosis	18/92	OMIM:176270
3653	IPW	HP:0000708	Atypical behavior	HP:0040282	OMIM:176270
3653	IPW	HP:0011461	Fetal onset	146/244	OMIM:176270
3653	IPW	HP:0000789	Infertility	HP:0040281	OMIM:176270
3653	IPW	HP:0000786	Primary amenorrhea	1/7	OMIM:176270
3653	IPW	HP:0003124	Hypercholesterolemia	42/66	OMIM:176270
3653	IPW	HP:0003199	Decreased muscle mass	HP:0040282	OMIM:176270
3653	IPW	HP:0000876	Oligomenorrhea	HP:0040282	OMIM:176270
3653	IPW	HP:0000846	Adrenal insufficiency	1/82	OMIM:176270
3653	IPW	HP:0000842	Hyperinsulinemia	-	OMIM:176270
3653	IPW	HP:0000826	Precocious puberty	-	OMIM:176270
3653	IPW	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040281	OMIM:176270
3653	IPW	HP:0000823	Delayed puberty	HP:0040282	OMIM:176270
3653	IPW	HP:0003233	Decreased HDL cholesterol concentration	23/66	OMIM:176270
3653	IPW	HP:0003241	External genital hypoplasia	HP:0040281	OMIM:176270
3653	IPW	HP:0000992	Cutaneous photosensitivity	HP:0040282	OMIM:176270
3653	IPW	HP:0000969	Edema	9/12	OMIM:176270
3653	IPW	HP:0000939	Osteoporosis	2/12	OMIM:176270
3653	IPW	HP:0000938	Osteopenia	HP:0040283	OMIM:176270
3653	IPW	HP:0000268	Dolichocephaly	-	OMIM:176270
3653	IPW	HP:0030084	Clinodactyly	-	OMIM:176270
3653	IPW	HP:0002808	Kyphosis	HP:0040282	OMIM:176270
3653	IPW	HP:0000219	Thin upper lip vermilion	15/20	OMIM:176270
3653	IPW	HP:0001562	Oligohydramnios	16/244	OMIM:176270
3653	IPW	HP:0001561	Polyhydramnios	57/244	OMIM:176270
3653	IPW	HP:0001558	Decreased fetal movement	146/244	OMIM:176270
3653	IPW	HP:0025501	Class III obesity	90/165	OMIM:176270
3653	IPW	HP:0001531	Failure to thrive in infancy	HP:0040281	OMIM:176270
3653	IPW	HP:0002857	Genu valgum	-	OMIM:176270
3653	IPW	HP:0001511	Intrauterine growth retardation	50/244	OMIM:176270
3653	IPW	HP:0001513	Obesity	85/180	OMIM:176270
3653	IPW	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	OMIM:176270
3653	IPW	HP:0001611	Hypernasal speech	HP:0040282	OMIM:176270
3653	IPW	HP:0000341	Narrow forehead	HP:0040282	OMIM:176270
3653	IPW	HP:0001623	Breech presentation	70/244	OMIM:176270
3653	IPW	HP:0000486	Strabismus	-	OMIM:176270
3653	IPW	HP:0012450	Chronic constipation	5/12	OMIM:176270
3653	IPW	HP:0001773	Short foot	HP:0040281	OMIM:176270
3653	IPW	HP:0000446	Narrow nasal bridge	HP:0040282	OMIM:176270
3653	IPW	HP:0000582	Upslanted palpebral fissure	HP:0040283	OMIM:176270
3653	IPW	HP:0000565	Esotropia	HP:0040283	OMIM:176270
3653	IPW	HP:0000540	Hypermetropia	-	OMIM:176270
3653	IPW	HP:0000545	Myopia	HP:0040283	OMIM:176270
3654	IRAK1	HP:0002463	Language impairment	HP:0040284	ORPHA:93552
3654	IRAK1	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
3654	IRAK1	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
3654	IRAK1	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
3654	IRAK1	HP:0001250	Seizure	HP:0040283	ORPHA:536
3654	IRAK1	HP:0001250	Seizure	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
3654	IRAK1	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0000093	Proteinuria	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
3654	IRAK1	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0025343	Lupus anticoagulant	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0001369	Arthritis	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0001369	Arthritis	HP:0040282	ORPHA:536
3654	IRAK1	HP:0033834	Malaise	HP:0040281	ORPHA:536
3654	IRAK1	HP:0012085	Pyuria	HP:0040282	ORPHA:536
3654	IRAK1	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
3654	IRAK1	HP:0025300	Malar rash	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0025300	Malar rash	HP:0040282	ORPHA:536
3654	IRAK1	HP:0001324	Muscle weakness	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0000155	Oral ulcer	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
3654	IRAK1	HP:0000123	Nephritis	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0000100	Nephrotic syndrome	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
3654	IRAK1	HP:0002725	Systemic lupus erythematosus	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0040319	Dark urine	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0002014	Diarrhea	HP:0040284	ORPHA:93552
3654	IRAK1	HP:0002013	Vomiting	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:93552
3654	IRAK1	HP:0002094	Dyspnea	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0002072	Chorea	HP:0040284	ORPHA:536
3654	IRAK1	HP:0002039	Anorexia	HP:0040281	ORPHA:536
3654	IRAK1	HP:0003453	Antineutrophil antibody positivity	HP:0040284	ORPHA:93552
3654	IRAK1	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
3654	IRAK1	HP:0003493	Antinuclear antibody positivity	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
3654	IRAK1	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040281	ORPHA:93552
3654	IRAK1	HP:0002202	Pleural effusion	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0100749	Chest pain	HP:0040284	ORPHA:93552
3654	IRAK1	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
3654	IRAK1	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
3654	IRAK1	HP:0002315	Headache	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
3654	IRAK1	HP:0100614	Myositis	HP:0040284	ORPHA:93552
3654	IRAK1	HP:0002301	Hemiplegia	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0003613	Antiphospholipid antibody positivity	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
3654	IRAK1	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
3654	IRAK1	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
3654	IRAK1	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
3654	IRAK1	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
3654	IRAK1	HP:0001945	Fever	HP:0040281	ORPHA:536
3654	IRAK1	HP:0001945	Fever	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0001937	Microangiopathic hemolytic anemia	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0000716	Depression	HP:0040283	ORPHA:536
3654	IRAK1	HP:0000709	Psychosis	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0000790	Hematuria	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0000790	Hematuria	HP:0040282	ORPHA:536
3654	IRAK1	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
3654	IRAK1	HP:0000822	Hypertension	HP:0040282	ORPHA:536
3654	IRAK1	HP:0030880	Raynaud phenomenon	HP:0040284	ORPHA:93552
3654	IRAK1	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
3654	IRAK1	HP:0045042	Decreased circulating complement C4 concentration	HP:0040281	ORPHA:93552
3654	IRAK1	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
3654	IRAK1	HP:0003270	Abdominal distention	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0045073	Serositis	HP:0040283	ORPHA:536
3654	IRAK1	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
3654	IRAK1	HP:0000988	Skin rash	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0000951	Abnormality of the skin	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0000969	Edema	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
3654	IRAK1	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
3654	IRAK1	HP:0001596	Alopecia	HP:0040284	ORPHA:93552
3654	IRAK1	HP:0001596	Alopecia	HP:0040282	ORPHA:536
3654	IRAK1	HP:0002829	Arthralgia	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0001541	Ascites	HP:0040283	ORPHA:93552
3654	IRAK1	HP:0012378	Fatigue	HP:0040281	ORPHA:536
3654	IRAK1	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0001698	Pericardial effusion	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
3654	IRAK1	HP:0005421	Decreased circulating complement C3 concentration	HP:0040281	ORPHA:93552
3654	IRAK1	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
3654	IRAK1	HP:0001824	Weight loss	HP:0040281	ORPHA:536
3654	IRAK1	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:93552
3654	IRAK1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
3654	IRAK1	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
3654	IRAK1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
3654	IRAK1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:93552
3655	ITGA6	HP:0008551	Microtia	1/1	OMIM:619817
3655	ITGA6	HP:0007385	Aplasia cutis congenita of scalp	1/1	OMIM:619817
3655	ITGA6	HP:0003811	Neonatal death	1/1	OMIM:619817
3655	ITGA6	HP:0000075	Renal duplication	HP:0040282	ORPHA:79403
3655	ITGA6	HP:0000070	Ureterocele	HP:0040282	ORPHA:79403
3655	ITGA6	HP:0000007	Autosomal recessive inheritance	-	OMIM:226730
3655	ITGA6	HP:0000007	Autosomal recessive inheritance	-	OMIM:619817
3655	ITGA6	HP:0006297	Enamel hypoplasia	-	OMIM:226730
3655	ITGA6	HP:0006297	Enamel hypoplasia	HP:0040282	ORPHA:79403
3655	ITGA6	HP:0007589	Aplasia cutis congenita on trunk or limbs	1/1	OMIM:619817
3655	ITGA6	HP:0007589	Aplasia cutis congenita on trunk or limbs	1/1	OMIM:226730
3655	ITGA6	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:79403
3655	ITGA6	HP:0000110	Renal dysplasia	HP:0040282	ORPHA:79403
3655	ITGA6	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:79403
3655	ITGA6	HP:0002032	Esophageal atresia	-	OMIM:226730
3655	ITGA6	HP:0003341	Lamina lucida cleavage	2/2	OMIM:226730
3655	ITGA6	HP:0003341	Lamina lucida cleavage	2/2	OMIM:619817
3655	ITGA6	HP:0002041	Intractable diarrhea	-	OMIM:226730
3655	ITGA6	HP:0010450	Esophageal stenosis	1/1	OMIM:619817
3655	ITGA6	HP:0100577	Urinary bladder inflammation	HP:0040282	ORPHA:79403
3655	ITGA6	HP:0010477	Aplasia of the bladder	HP:0040282	ORPHA:79403
3655	ITGA6	HP:0002164	Nail dysplasia	-	OMIM:226730
3655	ITGA6	HP:0003577	Congenital onset	2/2	OMIM:619817
3655	ITGA6	HP:0003577	Congenital onset	2/2	OMIM:226730
3655	ITGA6	HP:0008404	Nail dystrophy	-	OMIM:226730
3655	ITGA6	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:79403
3655	ITGA6	HP:0200097	Oral mucosal blisters	1/1	OMIM:226730
3655	ITGA6	HP:0200097	Oral mucosal blisters	1/1	OMIM:619817
3655	ITGA6	HP:0200097	Oral mucosal blisters	HP:0040281	ORPHA:79403
3655	ITGA6	HP:0001056	Milia	-	OMIM:226730
3655	ITGA6	HP:0001057	Aplasia cutis congenita	HP:0040283	ORPHA:79403
3655	ITGA6	HP:0001060	Axillary pterygium	-	OMIM:226730
3655	ITGA6	HP:0001059	Pterygium	HP:0040283	ORPHA:79403
3655	ITGA6	HP:0001030	Fragile skin	-	OMIM:226730
3655	ITGA6	HP:0001075	Atrophic scars	-	OMIM:226730
3655	ITGA6	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	1/1	OMIM:619817
3655	ITGA6	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3/3	OMIM:226730
3655	ITGA6	HP:0000656	Ectropion	-	OMIM:226730
3655	ITGA6	HP:0000656	Ectropion	HP:0040283	ORPHA:79403
3655	ITGA6	HP:0004399	Congenital pyloric atresia	HP:0040281	ORPHA:79403
3655	ITGA6	HP:0004399	Congenital pyloric atresia	1/1	OMIM:619817
3655	ITGA6	HP:0004399	Congenital pyloric atresia	1/1	OMIM:226730
3655	ITGA6	HP:0011432	Elevated maternal circulating alpha-fetoprotein concentration	-	OMIM:226730
3655	ITGA6	HP:0000790	Hematuria	HP:0040282	ORPHA:79403
3655	ITGA6	HP:0034378	Urethrovesical occlusion	1/1	OMIM:226730
3655	ITGA6	HP:0003270	Abdominal distention	HP:0040281	ORPHA:79403
3655	ITGA6	HP:0008066	Abnormal blistering of the skin	1/1	OMIM:226730
3655	ITGA6	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79403
3655	ITGA6	HP:0008066	Abnormal blistering of the skin	2/2	OMIM:619817
3655	ITGA6	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:226730
3655	ITGA6	HP:0012227	Urethral stricture	HP:0040282	ORPHA:79403
3655	ITGA6	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:79403
3655	ITGA6	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:79403
3655	ITGA6	HP:0001561	Polyhydramnios	-	OMIM:226730
3655	ITGA6	HP:0001522	Death in infancy	2/2	OMIM:226730
3655	ITGA6	HP:0001798	Anonychia	-	OMIM:226730
3655	ITGA6	HP:0011100	Intestinal atresia	HP:0040281	ORPHA:79403
3658	IREB2	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1/1	OMIM:618451
3658	IREB2	HP:0002421	Poor head control	1/1	OMIM:618451
3658	IREB2	HP:0001276	Hypertonia	1/1	OMIM:618451
3658	IREB2	HP:0001250	Seizure	-	OMIM:618451
3658	IREB2	HP:0001266	Choreoathetosis	1/1	OMIM:618451
3658	IREB2	HP:0001263	Global developmental delay	-	OMIM:618451
3658	IREB2	HP:0001257	Spasticity	1/1	OMIM:618451
3658	IREB2	HP:0001347	Hyperreflexia	1/1	OMIM:618451
3658	IREB2	HP:0001332	Dystonia	-	OMIM:618451
3658	IREB2	HP:0001344	Absent speech	1/1	OMIM:618451
3658	IREB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618451
3658	IREB2	HP:0008936	Axial hypotonia	1/1	OMIM:618451
3658	IREB2	HP:0011800	Midface retrusion	1/1	OMIM:618451
3658	IREB2	HP:0002072	Chorea	1/1	OMIM:618451
3658	IREB2	HP:0003487	Babinski sign	1/1	OMIM:618451
3658	IREB2	HP:0003593	Infantile onset	1/1	OMIM:618451
3658	IREB2	HP:0011968	Feeding difficulties	1/1	OMIM:618451
3658	IREB2	HP:0003676	Progressive	-	OMIM:618451
3658	IREB2	HP:0002353	EEG abnormality	-	OMIM:618451
3658	IREB2	HP:0100660	Dyskinesia	1/1	OMIM:618451
3658	IREB2	HP:0002310	Orofacial dyskinesia	-	OMIM:618451
3658	IREB2	HP:0001935	Microcytic anemia	1/1	OMIM:618451
3658	IREB2	HP:0001931	Hypochromic anemia	1/1	OMIM:618451
3658	IREB2	HP:0100021	Cerebral palsy	1/1	OMIM:618451
3658	IREB2	HP:0012736	Profound global developmental delay	1/1	OMIM:618451
3658	IREB2	HP:0012762	Cerebral white matter atrophy	1/1	OMIM:618451
3658	IREB2	HP:0034295	Reduced cerebral white matter volume	1/1	OMIM:618451
3658	IREB2	HP:0000817	Reduced eye contact	1/1	OMIM:618451
3658	IREB2	HP:0000369	Low-set ears	1/1	OMIM:618451
3658	IREB2	HP:0000322	Short philtrum	1/1	OMIM:618451
3658	IREB2	HP:0012448	Delayed myelination	-	OMIM:618451
3658	IREB2	HP:0000508	Ptosis	1/1	OMIM:618451
3659	IRF1	HP:0032256	Histoplasmosis	1/2	OMIM:620668
3659	IRF1	HP:0032261	Nontuberculous mycobacterial pulmonary infection	2/2	OMIM:620668
3659	IRF1	HP:0032283	Disseminated nontuberculous mycobacterial infection	1/2	OMIM:620668
3659	IRF1	HP:0002566	Intestinal malrotation	1/2	OMIM:620668
3659	IRF1	HP:0410377	Decreased naive CD8 T cell proportion	2/2	OMIM:620668
3659	IRF1	HP:0500265	Increased CD8+ TEMRA T cell proportion	2/2	OMIM:620668
3659	IRF1	HP:0033605	Pustular rash	1/2	OMIM:620668
3659	IRF1	HP:0001217	Clubbing	1/2	OMIM:620668
3659	IRF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620668
3659	IRF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:211980
3659	IRF1	HP:0012126	Stomach cancer	-	OMIM:613659
3659	IRF1	HP:0410067	Increased level of L-fucose in urine	-	OMIM:613659
3659	IRF1	HP:0002783	Recurrent lower respiratory tract infections	1/2	OMIM:620668
3659	IRF1	HP:0001442	Typified by somatic mosaicism	-	OMIM:613659
3659	IRF1	HP:0001442	Typified by somatic mosaicism	-	OMIM:211980
3659	IRF1	HP:0002014	Diarrhea	1/2	OMIM:620668
3659	IRF1	HP:0002090	Pneumonia	2/2	OMIM:620668
3659	IRF1	HP:0003593	Infantile onset	2/2	OMIM:620668
3659	IRF1	HP:0002240	Hepatomegaly	1/2	OMIM:620668
3659	IRF1	HP:0100721	Mediastinal lymphadenopathy	2/2	OMIM:620668
3659	IRF1	HP:0020086	BCGitis	1/2	OMIM:620668
3659	IRF1	HP:0020087	BCGosis	1/2	OMIM:620668
3659	IRF1	HP:0430108	Positive Mycobacterium avium sputum culture	1/1	OMIM:620668
3659	IRF1	HP:0034752	Axillary lymphadenopathy	1/2	OMIM:620668
3659	IRF1	HP:0001945	Fever	2/2	OMIM:620668
3659	IRF1	HP:0001903	Anemia	1/2	OMIM:620668
3659	IRF1	HP:0040218	Reduced total natural killer cell count	2/2	OMIM:620668
3659	IRF1	HP:0003261	Increased circulating IgA concentration	1/2	OMIM:620668
3659	IRF1	HP:0000957	Cafe-au-lait spot	1/2	OMIM:620668
3659	IRF1	HP:0030078	Lung adenocarcinoma	-	OMIM:211980
3659	IRF1	HP:0000246	Sinusitis	1/2	OMIM:620668
3659	IRF1	HP:0002840	Lymphadenitis	2/2	OMIM:620668
3659	IRF1	HP:0001508	Failure to thrive	1/2	OMIM:620668
3659	IRF1	HP:0006519	Alveolar cell carcinoma	-	OMIM:211980
3659	IRF1	HP:0410395	Increased effector memory CD8+ T cell proportion	2/2	OMIM:620668
3659	IRF1	HP:0410389	Decreased central memory CD8+ T cell proportion	2/2	OMIM:620668
3659	IRF1	HP:0001744	Splenomegaly	1/2	OMIM:620668
3659	IRF1	HP:0005403	Decreased total T cell count	1/2	OMIM:620668
3659	IRF1	HP:0011274	Recurrent mycobacterial infections	2/2	OMIM:620668
3659	IRF1	HP:0030358	Non-small cell lung carcinoma	-	OMIM:211980
3659	IRF1	HP:0030381	Increased transitional B cell proportion	1/2	OMIM:620668
3659	IRF1	HP:0001882	Decreased total leukocyte count	1/2	OMIM:620668
3659	IRF1	HP:0001873	Thrombocytopenia	1/2	OMIM:620668
3661	IRF3	HP:0001250	Seizure	1/2	OMIM:616532
3661	IRF3	HP:0031179	Nuchal rigidity	1/2	OMIM:616532
3661	IRF3	HP:0000006	Autosomal dominant inheritance	-	OMIM:616532
3661	IRF3	HP:0200149	CSF lymphocytic pleiocytosis	1/1	OMIM:616532
3661	IRF3	HP:0002315	Headache	1/2	OMIM:616532
3661	IRF3	HP:0003621	Juvenile onset	1/1	OMIM:616532
3661	IRF3	HP:0012302	Herpes simplex encephalitis	1/2	OMIM:616532
3662	IRF4	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:3452
3662	IRF4	HP:0100829	Galactorrhea	HP:0040283	ORPHA:3452
3662	IRF4	HP:0001250	Seizure	HP:0040283	ORPHA:3452
3662	IRF4	HP:0001251	Ataxia	HP:0040283	ORPHA:3452
3662	IRF4	HP:0007440	Generalized hyperpigmentation	HP:0040283	ORPHA:3452
3662	IRF4	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:3452
3662	IRF4	HP:0001369	Arthritis	HP:0040281	ORPHA:3452
3662	IRF4	HP:0001324	Muscle weakness	HP:0040283	ORPHA:3452
3662	IRF4	HP:0001336	Myoclonus	HP:0040281	ORPHA:3452
3662	IRF4	HP:0002615	Hypotension	HP:0040282	ORPHA:3452
3662	IRF4	HP:0002024	Malabsorption	HP:0040281	ORPHA:3452
3662	IRF4	HP:0002027	Abdominal pain	HP:0040281	ORPHA:3452
3662	IRF4	HP:0003326	Myalgia	HP:0040282	ORPHA:3452
3662	IRF4	HP:0002014	Diarrhea	HP:0040281	ORPHA:3452
3662	IRF4	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:3452
3662	IRF4	HP:0002039	Anorexia	HP:0040281	ORPHA:3452
3662	IRF4	HP:0002102	Pleuritis	HP:0040282	ORPHA:3452
3662	IRF4	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:3452
3662	IRF4	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:3452
3662	IRF4	HP:0100721	Mediastinal lymphadenopathy	HP:0040281	ORPHA:3452
3662	IRF4	HP:0100749	Chest pain	HP:0040283	ORPHA:3452
3662	IRF4	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:3452
3662	IRF4	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:3452
3662	IRF4	HP:0002376	Developmental regression	HP:0040281	ORPHA:3452
3662	IRF4	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:3452
3662	IRF4	HP:0100614	Myositis	HP:0040283	ORPHA:3452
3662	IRF4	HP:0100639	Erectile dysfunction	HP:0040283	ORPHA:3452
3662	IRF4	HP:0010741	Pedal edema	HP:0040283	ORPHA:3452
3662	IRF4	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:3452
3662	IRF4	HP:0001945	Fever	HP:0040281	ORPHA:3452
3662	IRF4	HP:0001959	Polydipsia	HP:0040283	ORPHA:3452
3662	IRF4	HP:0001903	Anemia	HP:0040283	ORPHA:3452
3662	IRF4	HP:0004326	Cachexia	HP:0040281	ORPHA:3452
3662	IRF4	HP:0012735	Cough	HP:0040283	ORPHA:3452
3662	IRF4	HP:0000716	Depression	HP:0040281	ORPHA:3452
3662	IRF4	HP:0000855	Insulin resistance	HP:0040283	ORPHA:3452
3662	IRF4	HP:0012819	Myocarditis	HP:0040283	ORPHA:3452
3662	IRF4	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:3452
3662	IRF4	HP:0002829	Arthralgia	HP:0040281	ORPHA:3452
3662	IRF4	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:3452
3662	IRF4	HP:0012378	Fatigue	HP:0040281	ORPHA:3452
3662	IRF4	HP:0002902	Hyponatremia	HP:0040283	ORPHA:3452
3662	IRF4	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:3452
3662	IRF4	HP:0001701	Pericarditis	HP:0040283	ORPHA:3452
3662	IRF4	HP:0001744	Splenomegaly	HP:0040282	ORPHA:3452
3662	IRF4	HP:0000520	Proptosis	HP:0040283	ORPHA:3452
3662	IRF4	HP:0000554	Uveitis	HP:0040282	ORPHA:3452
3663	IRF5	HP:0002480	Hepatic encephalopathy	HP:0040283	ORPHA:186
3663	IRF5	HP:0100958	Narrow foramen obturatorium	HP:0040281	ORPHA:220393
3663	IRF5	HP:0100958	Narrow foramen obturatorium	HP:0040281	ORPHA:220402
3663	IRF5	HP:0001114	Xanthelasma	HP:0040282	ORPHA:186
3663	IRF5	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
3663	IRF5	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
3663	IRF5	HP:0001278	Orthostatic hypotension	HP:0040282	ORPHA:186
3663	IRF5	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
3663	IRF5	HP:0001250	Seizure	HP:0040283	ORPHA:536
3663	IRF5	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:186
3663	IRF5	HP:0002570	Steatorrhea	HP:0040283	ORPHA:186
3663	IRF5	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
3663	IRF5	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:220393
3663	IRF5	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
3663	IRF5	HP:0001399	Hepatic failure	HP:0040282	ORPHA:186
3663	IRF5	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:186
3663	IRF5	HP:0001394	Cirrhosis	HP:0040281	ORPHA:186
3663	IRF5	HP:0001371	Flexion contracture	HP:0040282	ORPHA:220393
3663	IRF5	HP:0001369	Arthritis	HP:0040282	ORPHA:536
3663	IRF5	HP:0001369	Arthritis	HP:0040282	ORPHA:220393
3663	IRF5	HP:0033834	Malaise	HP:0040281	ORPHA:536
3663	IRF5	HP:0012085	Pyuria	HP:0040282	ORPHA:536
3663	IRF5	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
3663	IRF5	HP:0025300	Malar rash	HP:0040282	ORPHA:536
3663	IRF5	HP:0001324	Muscle weakness	HP:0040282	ORPHA:220393
3663	IRF5	HP:0002613	Biliary cirrhosis	HP:0040281	ORPHA:186
3663	IRF5	HP:0002608	Celiac disease	HP:0040283	ORPHA:186
3663	IRF5	HP:0002797	Osteolysis	HP:0040282	ORPHA:220393
3663	IRF5	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
3663	IRF5	HP:0012115	Hepatitis	HP:0040283	ORPHA:186
3663	IRF5	HP:0001409	Portal hypertension	HP:0040282	ORPHA:186
3663	IRF5	HP:0001402	Hepatocellular carcinoma	HP:0040282	ORPHA:186
3663	IRF5	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
3663	IRF5	HP:0002024	Malabsorption	HP:0040282	ORPHA:220393
3663	IRF5	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220402
3663	IRF5	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:220393
3663	IRF5	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:220402
3663	IRF5	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:220393
3663	IRF5	HP:0002015	Dysphagia	HP:0040282	ORPHA:220402
3663	IRF5	HP:0002015	Dysphagia	HP:0040282	ORPHA:220393
3663	IRF5	HP:0002094	Dyspnea	HP:0040281	ORPHA:220393
3663	IRF5	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:220402
3663	IRF5	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:220393
3663	IRF5	HP:0002072	Chorea	HP:0040284	ORPHA:536
3663	IRF5	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040282	ORPHA:186
3663	IRF5	HP:0002040	Esophageal varix	HP:0040283	ORPHA:186
3663	IRF5	HP:0002039	Anorexia	HP:0040281	ORPHA:536
3663	IRF5	HP:0100520	Oliguria	HP:0040281	ORPHA:220393
3663	IRF5	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:220402
3663	IRF5	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:220393
3663	IRF5	HP:0100579	Mucosal telangiectasiae	HP:0040282	ORPHA:220402
3663	IRF5	HP:0009473	Joint contracture of the hand	HP:0040283	ORPHA:220402
3663	IRF5	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
3663	IRF5	HP:0002113	Pulmonary infiltrates	HP:0040281	ORPHA:220393
3663	IRF5	HP:0003496	Increased circulating IgM level	HP:0040282	ORPHA:186
3663	IRF5	HP:0003493	Antinuclear antibody positivity	HP:0040282	ORPHA:186
3663	IRF5	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
3663	IRF5	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:186
3663	IRF5	HP:0002206	Pulmonary fibrosis	HP:0040283	ORPHA:220402
3663	IRF5	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:220393
3663	IRF5	HP:0100735	Hypertensive crisis	HP:0040283	ORPHA:220393
3663	IRF5	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
3663	IRF5	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
3663	IRF5	HP:0008366	Foot joint contracture	HP:0040283	ORPHA:220402
3663	IRF5	HP:0011971	Dermatographic urticaria	HP:0040281	ORPHA:186
3663	IRF5	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:220402
3663	IRF5	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:186
3663	IRF5	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:220402
3663	IRF5	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
3663	IRF5	HP:0200042	Skin ulcer	HP:0040282	ORPHA:220402
3663	IRF5	HP:0200042	Skin ulcer	HP:0040282	ORPHA:220393
3663	IRF5	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
3663	IRF5	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
3663	IRF5	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
3663	IRF5	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
3663	IRF5	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
3663	IRF5	HP:0001945	Fever	HP:0040281	ORPHA:536
3663	IRF5	HP:0000670	Carious teeth	HP:0040282	ORPHA:220393
3663	IRF5	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:186
3663	IRF5	HP:0004386	Gastrointestinal inflammation	HP:0040284	ORPHA:186
3663	IRF5	HP:0000716	Depression	HP:0040283	ORPHA:536
3663	IRF5	HP:0000790	Hematuria	HP:0040282	ORPHA:536
3663	IRF5	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:186
3663	IRF5	HP:0003119	Abnormal circulating lipid concentration	HP:0040282	ORPHA:186
3663	IRF5	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
3663	IRF5	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:186
3663	IRF5	HP:0000822	Hypertension	HP:0040282	ORPHA:536
3663	IRF5	HP:0000820	Abnormality of the thyroid gland	HP:0040282	ORPHA:186
3663	IRF5	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
3663	IRF5	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
3663	IRF5	HP:0003270	Abdominal distention	HP:0040283	ORPHA:186
3663	IRF5	HP:0045073	Serositis	HP:0040283	ORPHA:536
3663	IRF5	HP:0003261	Increased circulating IgA concentration	HP:0040283	ORPHA:186
3663	IRF5	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
3663	IRF5	HP:0000989	Pruritus	HP:0040282	ORPHA:186
3663	IRF5	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:186
3663	IRF5	HP:0000952	Jaundice	HP:0040282	ORPHA:186
3663	IRF5	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:220402
3663	IRF5	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:220393
3663	IRF5	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
3663	IRF5	HP:0000939	Osteoporosis	HP:0040283	ORPHA:186
3663	IRF5	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
3663	IRF5	HP:0001596	Alopecia	HP:0040282	ORPHA:536
3663	IRF5	HP:0002829	Arthralgia	HP:0040282	ORPHA:220393
3663	IRF5	HP:0012203	Onychomycosis	HP:0040282	ORPHA:186
3663	IRF5	HP:0000217	Xerostomia	HP:0040282	ORPHA:220393
3663	IRF5	HP:0030016	Dyspareunia	HP:0040282	ORPHA:220393
3663	IRF5	HP:0001541	Ascites	HP:0040283	ORPHA:186
3663	IRF5	HP:0002841	Recurrent fungal infections	HP:0040282	ORPHA:186
3663	IRF5	HP:0012378	Fatigue	HP:0040281	ORPHA:536
3663	IRF5	HP:0012378	Fatigue	HP:0040283	ORPHA:186
3663	IRF5	HP:0011040	Abnormal intrahepatic bile duct morphology	HP:0040282	ORPHA:186
3663	IRF5	HP:0002908	Conjugated hyperbilirubinemia	HP:0040281	ORPHA:186
3663	IRF5	HP:0030142	Abnormal bowel sounds	HP:0040283	ORPHA:220393
3663	IRF5	HP:0002960	Autoimmunity	HP:0040281	ORPHA:220402
3663	IRF5	HP:0002960	Autoimmunity	HP:0040282	ORPHA:186
3663	IRF5	HP:0002960	Autoimmunity	HP:0040281	ORPHA:220393
3663	IRF5	HP:0030167	Antimitochondrial antibody positivity	HP:0040281	ORPHA:186
3663	IRF5	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:220393
3663	IRF5	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
3663	IRF5	HP:0001744	Splenomegaly	HP:0040283	ORPHA:186
3663	IRF5	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
3663	IRF5	HP:0001824	Weight loss	HP:0040281	ORPHA:536
3663	IRF5	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
3663	IRF5	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
3663	IRF5	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
3664	IRF6	HP:0001171	Split hand	HP:0040283	ORPHA:1300
3664	IRF6	HP:0003745	Sporadic	-	OMIM:608864
3664	IRF6	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:1300
3664	IRF6	HP:0008726	Hypoplasia of the vagina	-	OMIM:119500
3664	IRF6	HP:0010982	Polygenic inheritance	-	OMIM:608864
3664	IRF6	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:1300
3664	IRF6	HP:0000059	Hypoplastic labia majora	HP:0040282	ORPHA:1300
3664	IRF6	HP:0000059	Hypoplastic labia majora	1/2	OMIM:119500
3664	IRF6	HP:0000046	Small scrotum	-	OMIM:119500
3664	IRF6	HP:0000046	Small scrotum	HP:0040282	ORPHA:1300
3664	IRF6	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1300
3664	IRF6	HP:0000048	Bifid scrotum	-	OMIM:119500
3664	IRF6	HP:0000048	Bifid scrotum	HP:0040282	ORPHA:1300
3664	IRF6	HP:0000028	Cryptorchidism	-	OMIM:119500
3664	IRF6	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1300
3664	IRF6	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199306
3664	IRF6	HP:0410011	Abnormality of masticatory muscle	HP:0040282	ORPHA:141291
3664	IRF6	HP:0001328	Specific learning disability	HP:0040284	ORPHA:199302
3664	IRF6	HP:0001328	Specific learning disability	HP:0040283	ORPHA:1300
3664	IRF6	HP:0000013	Hypoplasia of the uterus	-	OMIM:119500
3664	IRF6	HP:0000006	Autosomal dominant inheritance	-	OMIM:119300
3664	IRF6	HP:0000006	Autosomal dominant inheritance	-	OMIM:608864
3664	IRF6	HP:0000006	Autosomal dominant inheritance	-	OMIM:119500
3664	IRF6	HP:0002650	Scoliosis	HP:0040282	ORPHA:1300
3664	IRF6	HP:0000193	Bifid uvula	2/6	OMIM:119500
3664	IRF6	HP:0000193	Bifid uvula	2/24	OMIM:119300
3664	IRF6	HP:0000193	Bifid uvula	HP:0040283	ORPHA:888
3664	IRF6	HP:0000196	Lower lip pit	24/27	OMIM:119300
3664	IRF6	HP:0000196	Lower lip pit	HP:0040282	ORPHA:888
3664	IRF6	HP:0000196	Lower lip pit	1/6	OMIM:119500
3664	IRF6	HP:0000175	Cleft palate	HP:0040282	ORPHA:199306
3664	IRF6	HP:0000175	Cleft palate	HP:0040282	ORPHA:888
3664	IRF6	HP:0000175	Cleft palate	6/6	OMIM:119500
3664	IRF6	HP:0000175	Cleft palate	14/24	OMIM:119300
3664	IRF6	HP:0000175	Cleft palate	-	OMIM:608864
3664	IRF6	HP:0000175	Cleft palate	HP:0040281	ORPHA:1300
3664	IRF6	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:199306
3664	IRF6	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:99798
3664	IRF6	HP:0006344	Abnormal primary molar morphology	HP:0040283	ORPHA:99798
3664	IRF6	HP:0006332	Supernumerary maxillary incisor	HP:0040283	ORPHA:199302
3664	IRF6	HP:0006336	Short dental root	HP:0040282	ORPHA:99798
3664	IRF6	HP:0006292	Abnormality of dental eruption	HP:0040281	ORPHA:199306
3664	IRF6	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:99798
3664	IRF6	HP:0006289	Agenesis of central incisor	HP:0040282	ORPHA:99798
3664	IRF6	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:141291
3664	IRF6	HP:0002033	Poor suck	HP:0040282	ORPHA:199306
3664	IRF6	HP:0002015	Dysphagia	HP:0040283	ORPHA:141291
3664	IRF6	HP:0010554	Cutaneous finger syndactyly	3/6	OMIM:119500
3664	IRF6	HP:0008288	Nonketotic hyperglycinemia	HP:0040282	ORPHA:1300
3664	IRF6	HP:0003577	Congenital onset	6/6	OMIM:119500
3664	IRF6	HP:0003577	Congenital onset	24/24	OMIM:119300
3664	IRF6	HP:0002230	Generalized hirsutism	HP:0040281	ORPHA:1300
3664	IRF6	HP:0200153	Agenesis of lateral incisor	HP:0040283	ORPHA:199306
3664	IRF6	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:199306
3664	IRF6	HP:0009755	Ankyloblepharon	-	OMIM:119500
3664	IRF6	HP:0009755	Ankyloblepharon	HP:0040282	ORPHA:1300
3664	IRF6	HP:0009754	Fibrous syngnathia	HP:0040282	ORPHA:1300
3664	IRF6	HP:0009754	Fibrous syngnathia	2/6	OMIM:119500
3664	IRF6	HP:0009757	Intercrural pterygium	-	OMIM:119500
3664	IRF6	HP:0009756	Popliteal pterygium	3/6	OMIM:119500
3664	IRF6	HP:0009756	Popliteal pterygium	HP:0040282	ORPHA:1300
3664	IRF6	HP:0009758	Pyramidal skinfold extending from the base to the top of the nails	-	OMIM:119500
3664	IRF6	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:141291
3664	IRF6	HP:0009088	Speech articulation difficulties	HP:0040283	ORPHA:199302
3664	IRF6	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:199306
3664	IRF6	HP:0000696	Delayed eruption of permanent teeth	HP:0040282	ORPHA:99798
3664	IRF6	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:99798
3664	IRF6	HP:0000679	Taurodontia	HP:0040283	ORPHA:99798
3664	IRF6	HP:0000677	Oligodontia	HP:0040280	ORPHA:99798
3664	IRF6	HP:0000691	Microdontia	HP:0040282	ORPHA:99798
3664	IRF6	HP:0000690	Agenesis of maxillary lateral incisor	HP:0040282	ORPHA:99798
3664	IRF6	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:199306
3664	IRF6	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:99798
3664	IRF6	HP:0000685	Hypoplasia of teeth	HP:0040283	ORPHA:99798
3664	IRF6	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:99798
3664	IRF6	HP:0000668	Hypodontia	HP:0040283	ORPHA:141291
3664	IRF6	HP:0000668	Hypodontia	HP:0040284	ORPHA:199302
3664	IRF6	HP:0000668	Hypodontia	1/24	OMIM:119300
3664	IRF6	HP:0000668	Hypodontia	HP:0040283	ORPHA:888
3664	IRF6	HP:0004395	Malnutrition	HP:0040283	ORPHA:199306
3664	IRF6	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:1300
3664	IRF6	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:199306
3664	IRF6	HP:0000726	Dementia	-	OMIM:119500
3664	IRF6	HP:0000708	Atypical behavior	HP:0040283	ORPHA:199302
3664	IRF6	HP:0011438	Maternal teratogenic exposure	HP:0040283	ORPHA:199302
3664	IRF6	HP:0040115	Abnormal Eustachian tube morphology	HP:0040283	ORPHA:199302
3664	IRF6	HP:0100336	Bilateral cleft lip	HP:0040283	ORPHA:199302
3664	IRF6	HP:0100337	Bilateral cleft palate	HP:0040283	ORPHA:199306
3664	IRF6	HP:0100334	Unilateral cleft palate	HP:0040282	ORPHA:199306
3664	IRF6	HP:0100335	Non-midline cleft of the upper lip	HP:0040282	ORPHA:1300
3664	IRF6	HP:0100335	Non-midline cleft of the upper lip	HP:0040282	ORPHA:199302
3664	IRF6	HP:0010294	Palate fistula	HP:0040283	ORPHA:199306
3664	IRF6	HP:0010296	Ankyloglossia	HP:0040283	ORPHA:888
3664	IRF6	HP:0010286	Abnormal salivary gland morphology	HP:0040283	ORPHA:888
3664	IRF6	HP:0003298	Spina bifida occulta	-	OMIM:119500
3664	IRF6	HP:0100267	Lip pit	HP:0040282	ORPHA:1300
3664	IRF6	HP:0100267	Lip pit	HP:0040281	ORPHA:141291
3664	IRF6	HP:0100267	Lip pit	HP:0040281	ORPHA:888
3664	IRF6	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:1300
3664	IRF6	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:141291
3664	IRF6	HP:0005105	Abnormal nasal morphology	HP:0040282	ORPHA:141291
3664	IRF6	HP:0001572	Macrodontia	HP:0040283	ORPHA:199302
3664	IRF6	HP:0000220	Velopharyngeal insufficiency	HP:0040283	ORPHA:199302
3664	IRF6	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:199306
3664	IRF6	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:1300
3664	IRF6	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:199302
3664	IRF6	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:199302
3664	IRF6	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:199306
3664	IRF6	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:99798
3664	IRF6	HP:0000204	Cleft upper lip	3/6	OMIM:119500
3664	IRF6	HP:0000204	Cleft upper lip	-	OMIM:608864
3664	IRF6	HP:0000204	Cleft upper lip	22/27	OMIM:119300
3664	IRF6	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:888
3664	IRF6	HP:0001518	Small for gestational age	HP:0040283	ORPHA:199302
3664	IRF6	HP:0011078	Abnormality of canine	HP:0040283	ORPHA:99798
3664	IRF6	HP:0011053	Agenesis of mandibular premolar	HP:0040283	ORPHA:99798
3664	IRF6	HP:0011051	Agenesis of premolar	HP:0040282	ORPHA:99798
3664	IRF6	HP:0011056	Agenesis of first permanent molar tooth	HP:0040282	ORPHA:99798
3664	IRF6	HP:0011044	Abnormal number of permanent teeth	HP:0040283	ORPHA:199306
3664	IRF6	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:199302
3664	IRF6	HP:0005216	Impaired mastication	HP:0040282	ORPHA:141291
3664	IRF6	HP:0005216	Impaired mastication	HP:0040281	ORPHA:99798
3664	IRF6	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:141291
3664	IRF6	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:199306
3664	IRF6	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:99798
3664	IRF6	HP:0001696	Situs inversus totalis	HP:0040284	ORPHA:199302
3664	IRF6	HP:0000347	Micrognathia	HP:0040281	ORPHA:1300
3664	IRF6	HP:0031469	Low self-esteem	HP:0040283	ORPHA:199302
3664	IRF6	HP:0000327	Hypoplasia of the maxilla	HP:0040284	ORPHA:199306
3664	IRF6	HP:0005324	Disturbance of facial expression	HP:0040282	ORPHA:141291
3664	IRF6	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:199306
3664	IRF6	HP:0000405	Conductive hearing impairment	HP:0040284	ORPHA:199302
3664	IRF6	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:199306
3664	IRF6	HP:0012472	Eclabion	HP:0040283	ORPHA:99798
3664	IRF6	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:1300
3664	IRF6	HP:0000453	Choanal atresia	HP:0040283	ORPHA:1300
3664	IRF6	HP:0000419	Abnormal nasal septum morphology	HP:0040283	ORPHA:141291
3664	IRF6	HP:0001762	Talipes equinovarus	HP:0040284	ORPHA:199302
3664	IRF6	HP:0001762	Talipes equinovarus	-	OMIM:119500
3664	IRF6	HP:0011219	Short face	HP:0040283	ORPHA:99798
3665	IRF7	HP:0000007	Autosomal recessive inheritance	-	OMIM:616345
3665	IRF7	HP:0002721	Immunodeficiency	-	OMIM:616345
3665	IRF7	HP:0011463	Childhood onset	1/1	OMIM:616345
3665	IRF7	HP:0034249	Severe influenza infection	1/1	OMIM:616345
3667	IRS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
3667	IRS1	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
3667	IRS1	HP:0003584	Late onset	-	OMIM:125853
3667	IRS1	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
3667	IRS1	HP:0000855	Insulin resistance	-	OMIM:125853
3670	ISL1	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:93930
3670	ISL1	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:93930
3670	ISL1	HP:0000076	Vesicoureteral reflux	HP:0040281	ORPHA:93930
3670	ISL1	HP:0000069	Abnormality of the ureter	HP:0040282	ORPHA:93930
3670	ISL1	HP:0000039	Epispadias	HP:0040281	ORPHA:93930
3670	ISL1	HP:0000056	Abnormal clitoris morphology	HP:0040281	ORPHA:93930
3670	ISL1	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:93930
3670	ISL1	HP:0000010	Recurrent urinary tract infections	HP:0040282	ORPHA:93930
3670	ISL1	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:93930
3670	ISL1	HP:0004378	Abnormality of the anus	HP:0040281	ORPHA:93930
3670	ISL1	HP:0001537	Umbilical hernia	HP:0040281	ORPHA:93930
3670	ISL1	HP:0001539	Omphalocele	HP:0040283	ORPHA:93930
3670	ISL1	HP:0002836	Bladder exstrophy	HP:0040281	ORPHA:93930
3673	ITGA2	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040284	ORPHA:853
3673	ITGA2	HP:0001263	Global developmental delay	HP:0040284	ORPHA:853
3673	ITGA2	HP:0007420	Spontaneous hematomas	HP:0040282	ORPHA:853
3673	ITGA2	HP:0002138	Subarachnoid hemorrhage	HP:0040284	ORPHA:853
3673	ITGA2	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:853
3673	ITGA2	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:853
3673	ITGA2	HP:0002249	Melena	HP:0040283	ORPHA:853
3673	ITGA2	HP:0004809	Neonatal alloimmune thrombocytopenia	HP:0040280	ORPHA:853
3673	ITGA2	HP:0000618	Blindness	HP:0040284	ORPHA:853
3673	ITGA2	HP:0100021	Cerebral palsy	HP:0040284	ORPHA:853
3673	ITGA2	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:853
3673	ITGA2	HP:0000790	Hematuria	HP:0040283	ORPHA:853
3673	ITGA2	HP:0000979	Purpura	HP:0040282	ORPHA:853
3673	ITGA2	HP:0000967	Petechiae	HP:0040282	ORPHA:853
3673	ITGA2	HP:0031364	Ecchymosis	HP:0040283	ORPHA:853
3673	ITGA2	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:853
3673	ITGA2	HP:0012541	Cephalohematoma	HP:0040282	ORPHA:853
3674	ITGA2B	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040284	ORPHA:853
3674	ITGA2B	HP:0001263	Global developmental delay	HP:0040284	ORPHA:853
3674	ITGA2B	HP:0007420	Spontaneous hematomas	HP:0040283	ORPHA:849
3674	ITGA2B	HP:0007420	Spontaneous hematomas	HP:0040282	ORPHA:853
3674	ITGA2B	HP:0000007	Autosomal recessive inheritance	-	OMIM:273800
3674	ITGA2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:187800
3674	ITGA2B	HP:0032438	Platelet anisocytosis	5/5	OMIM:187800
3674	ITGA2B	HP:0031126	Impaired clot retraction	12/12	OMIM:273800
3674	ITGA2B	HP:0031128	Impaired collagen-related peptide-induced platelet aggregation	-	ORPHA:849
3674	ITGA2B	HP:0000132	Menorrhagia	-	OMIM:273800
3674	ITGA2B	HP:0000132	Menorrhagia	HP:0040283	ORPHA:849
3674	ITGA2B	HP:0008148	Impaired epinephrine-induced platelet aggregation	1/1	OMIM:273800
3674	ITGA2B	HP:0008148	Impaired epinephrine-induced platelet aggregation	-	ORPHA:849
3674	ITGA2B	HP:0002138	Subarachnoid hemorrhage	HP:0040284	ORPHA:853
3674	ITGA2B	HP:0002170	Intracranial hemorrhage	-	OMIM:273800
3674	ITGA2B	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:853
3674	ITGA2B	HP:0011894	Impaired thromboxane A2 agonist-induced platelet aggregation	-	ORPHA:849
3674	ITGA2B	HP:0011872	Impaired thrombin-induced platelet aggregation	-	ORPHA:849
3674	ITGA2B	HP:0011873	Abnormal platelet count	0/1	OMIM:273800
3674	ITGA2B	HP:0011870	Impaired arachidonic acid-induced platelet aggregation	-	ORPHA:849
3674	ITGA2B	HP:0011871	Impaired ristocetin-induced platelet aggregation	0/1	OMIM:273800
3674	ITGA2B	HP:0011871	Impaired ristocetin-induced platelet aggregation	HP:0040284	ORPHA:849
3674	ITGA2B	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:849
3674	ITGA2B	HP:0002239	Gastrointestinal hemorrhage	-	OMIM:273800
3674	ITGA2B	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:853
3674	ITGA2B	HP:0002249	Melena	HP:0040283	ORPHA:853
3674	ITGA2B	HP:0003540	Impaired platelet aggregation	-	OMIM:187800
3674	ITGA2B	HP:0003540	Impaired platelet aggregation	-	OMIM:273800
3674	ITGA2B	HP:0004866	Impaired ADP-induced platelet aggregation	13/13	OMIM:273800
3674	ITGA2B	HP:0004866	Impaired ADP-induced platelet aggregation	-	ORPHA:849
3674	ITGA2B	HP:0008320	Impaired collagen-induced platelet aggregation	1/1	OMIM:273800
3674	ITGA2B	HP:0004846	Prolonged bleeding after surgery	HP:0040282	ORPHA:849
3674	ITGA2B	HP:0004809	Neonatal alloimmune thrombocytopenia	HP:0040280	ORPHA:853
3674	ITGA2B	HP:0003623	Neonatal onset	1/1	OMIM:273800
3674	ITGA2B	HP:0001975	Decreased platelet glycoprotein IIb-IIIa	12/12	OMIM:273800
3674	ITGA2B	HP:0000618	Blindness	HP:0040284	ORPHA:853
3674	ITGA2B	HP:0001903	Anemia	-	OMIM:187800
3674	ITGA2B	HP:0001902	Giant platelets	5/5	OMIM:187800
3674	ITGA2B	HP:0003010	Prolonged bleeding time	-	OMIM:273800
3674	ITGA2B	HP:0003010	Prolonged bleeding time	HP:0040281	ORPHA:849
3674	ITGA2B	HP:0400008	Menometrorrhagia	HP:0040283	ORPHA:849
3674	ITGA2B	HP:0100021	Cerebral palsy	HP:0040284	ORPHA:853
3674	ITGA2B	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:853
3674	ITGA2B	HP:0000790	Hematuria	HP:0040283	ORPHA:853
3674	ITGA2B	HP:0004406	Spontaneous, recurrent epistaxis	HP:0040281	ORPHA:849
3674	ITGA2B	HP:0100309	Subdural hemorrhage	1/1	OMIM:273800
3674	ITGA2B	HP:0000979	Purpura	-	OMIM:273800
3674	ITGA2B	HP:0000979	Purpura	HP:0040282	ORPHA:853
3674	ITGA2B	HP:0000979	Purpura	HP:0040283	ORPHA:849
3674	ITGA2B	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:849
3674	ITGA2B	HP:0000978	Bruising susceptibility	-	OMIM:273800
3674	ITGA2B	HP:0000967	Petechiae	-	OMIM:187800
3674	ITGA2B	HP:0000967	Petechiae	HP:0040282	ORPHA:853
3674	ITGA2B	HP:0040185	Macrothrombocytopenia	5/5	OMIM:187800
3674	ITGA2B	HP:0000225	Gingival bleeding	-	OMIM:273800
3674	ITGA2B	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:849
3674	ITGA2B	HP:0031364	Ecchymosis	1/1	OMIM:273800
3674	ITGA2B	HP:0031364	Ecchymosis	HP:0040283	ORPHA:849
3674	ITGA2B	HP:0031364	Ecchymosis	HP:0040283	ORPHA:853
3674	ITGA2B	HP:0030138	Excessive bleeding from superficial cuts	1/1	OMIM:273800
3674	ITGA2B	HP:0030137	Prolonged bleeding following circumcision	HP:0040282	ORPHA:849
3674	ITGA2B	HP:0000421	Epistaxis	1/1	OMIM:273800
3674	ITGA2B	HP:0012587	Macroscopic hematuria	HP:0040283	ORPHA:849
3674	ITGA2B	HP:0001892	Abnormal bleeding	-	OMIM:187800
3674	ITGA2B	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:853
3674	ITGA2B	HP:0012541	Cephalohematoma	HP:0040282	ORPHA:853
3674	ITGA2B	HP:0001873	Thrombocytopenia	5/5	OMIM:187800
3675	ITGA3	HP:0001252	Hypotonia	-	OMIM:614748
3675	ITGA3	HP:0000083	Renal insufficiency	-	OMIM:614748
3675	ITGA3	HP:0000097	Focal segmental glomerulosclerosis	3/3	OMIM:614748
3675	ITGA3	HP:0000093	Proteinuria	-	OMIM:614748
3675	ITGA3	HP:0000092	Renal tubular atrophy	-	OMIM:614748
3675	ITGA3	HP:0000007	Autosomal recessive inheritance	-	OMIM:614748
3675	ITGA3	HP:0002643	Neonatal respiratory distress	-	OMIM:614748
3675	ITGA3	HP:0000160	Narrow mouth	-	OMIM:614748
3675	ITGA3	HP:0000100	Nephrotic syndrome	3/3	OMIM:614748
3675	ITGA3	HP:0005972	Respiratory acidosis	-	OMIM:614748
3675	ITGA3	HP:0002098	Respiratory distress	3/3	OMIM:614748
3675	ITGA3	HP:0003593	Infantile onset	1/3	OMIM:614748
3675	ITGA3	HP:0003577	Congenital onset	1/3	OMIM:614748
3675	ITGA3	HP:0002213	Fine hair	-	OMIM:614748
3675	ITGA3	HP:0002209	Sparse scalp hair	3/3	OMIM:614748
3675	ITGA3	HP:0002205	Recurrent respiratory infections	2/3	OMIM:614748
3675	ITGA3	HP:0008404	Nail dystrophy	3/3	OMIM:614748
3675	ITGA3	HP:0001030	Fragile skin	-	OMIM:614748
3675	ITGA3	HP:0010783	Erythema	-	OMIM:614748
3675	ITGA3	HP:0003623	Neonatal onset	1/3	OMIM:614748
3675	ITGA3	HP:0000653	Sparse eyelashes	3/3	OMIM:614748
3675	ITGA3	HP:0003073	Hypoalbuminemia	-	OMIM:614748
3675	ITGA3	HP:0000771	Gynecomastia	-	OMIM:614748
3675	ITGA3	HP:0000774	Narrow chest	-	OMIM:614748
3675	ITGA3	HP:0045075	Sparse eyebrow	3/3	OMIM:614748
3675	ITGA3	HP:0008066	Abnormal blistering of the skin	3/3	OMIM:614748
3675	ITGA3	HP:0000252	Microcephaly	-	OMIM:614748
3675	ITGA3	HP:0012213	Decreased glomerular filtration rate	-	OMIM:614748
3675	ITGA3	HP:0006530	Abnormal pulmonary interstitial morphology	2/3	OMIM:614748
3675	ITGA3	HP:0000316	Hypertelorism	-	OMIM:614748
3675	ITGA3	HP:0000311	Round face	-	OMIM:614748
3675	ITGA3	HP:0000400	Macrotia	-	OMIM:614748
3675	ITGA3	HP:0000448	Prominent nose	-	OMIM:614748
3675	ITGA3	HP:0001806	Onycholysis	1/1	OMIM:614748
3675	ITGA3	HP:0011220	Prominent forehead	-	OMIM:614748
3679	ITGA7	HP:0002421	Poor head control	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0003749	Pelvic girdle muscle weakness	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0001270	Motor delay	3/3	OMIM:613204
3679	ITGA7	HP:0001270	Motor delay	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0001284	Areflexia	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0001252	Hypotonia	HP:0040281	ORPHA:2020
3679	ITGA7	HP:0001252	Hypotonia	1/3	OMIM:613204
3679	ITGA7	HP:0001249	Intellectual disability	1/3	OMIM:613204
3679	ITGA7	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0001371	Flexion contracture	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0001324	Muscle weakness	3/3	OMIM:613204
3679	ITGA7	HP:0000007	Autosomal recessive inheritance	-	OMIM:613204
3679	ITGA7	HP:0002650	Scoliosis	-	OMIM:613204
3679	ITGA7	HP:0002650	Scoliosis	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0002015	Dysphagia	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:2020
3679	ITGA7	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0011807	Type 1 muscle fiber atrophy	HP:0040281	ORPHA:2020
3679	ITGA7	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0003391	Gowers sign	1/3	OMIM:613204
3679	ITGA7	HP:0002058	Myopathic facies	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0003388	Easy fatigability	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0011842	Abnormal skeletal morphology	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0003593	Infantile onset	2/3	OMIM:613204
3679	ITGA7	HP:0003577	Congenital onset	1/3	OMIM:613204
3679	ITGA7	HP:0003547	Shoulder girdle muscle weakness	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0004878	Intercostal muscle weakness	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0003560	Muscular dystrophy	-	OMIM:613204
3679	ITGA7	HP:0003557	Increased variability in muscle fiber diameter	3/3	OMIM:613204
3679	ITGA7	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0002315	Headache	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0000678	Dental crowding	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0009004	Hypoplasia of the musculature	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0004396	Poor appetite	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0004347	Weakness of muscles of respiration	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0012785	Flexion contracture of finger	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0003236	Elevated circulating creatine kinase concentration	2/3	OMIM:613204
3679	ITGA7	HP:0003202	Skeletal muscle atrophy	-	OMIM:613204
3679	ITGA7	HP:0003273	Hip contracture	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0000276	Long face	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0006466	Ankle flexion contracture	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0002878	Respiratory failure	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0000218	High palate	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0012378	Fatigue	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0005216	Impaired mastication	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0001609	Hoarse voice	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0000347	Micrognathia	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0001648	Cor pulmonale	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0000473	Torticollis	2/3	OMIM:613204
3679	ITGA7	HP:0012416	Hypercapnia	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0012418	Hypoxemia	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0001761	Pes cavus	HP:0040283	ORPHA:2020
3679	ITGA7	HP:0001824	Weight loss	HP:0040282	ORPHA:2020
3679	ITGA7	HP:0012548	Fatty replacement of skeletal muscle	-	OMIM:613204
3684	ITGAM	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
3684	ITGAM	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
3684	ITGAM	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
3684	ITGAM	HP:0001250	Seizure	HP:0040283	ORPHA:536
3684	ITGAM	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
3684	ITGAM	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
3684	ITGAM	HP:0001369	Arthritis	HP:0040282	ORPHA:536
3684	ITGAM	HP:0033834	Malaise	HP:0040281	ORPHA:536
3684	ITGAM	HP:0012085	Pyuria	HP:0040282	ORPHA:536
3684	ITGAM	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
3684	ITGAM	HP:0025300	Malar rash	HP:0040282	ORPHA:536
3684	ITGAM	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
3684	ITGAM	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
3684	ITGAM	HP:0002072	Chorea	HP:0040284	ORPHA:536
3684	ITGAM	HP:0002039	Anorexia	HP:0040281	ORPHA:536
3684	ITGAM	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
3684	ITGAM	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
3684	ITGAM	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
3684	ITGAM	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
3684	ITGAM	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
3684	ITGAM	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
3684	ITGAM	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
3684	ITGAM	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
3684	ITGAM	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
3684	ITGAM	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
3684	ITGAM	HP:0001945	Fever	HP:0040281	ORPHA:536
3684	ITGAM	HP:0000716	Depression	HP:0040283	ORPHA:536
3684	ITGAM	HP:0000790	Hematuria	HP:0040282	ORPHA:536
3684	ITGAM	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
3684	ITGAM	HP:0000822	Hypertension	HP:0040282	ORPHA:536
3684	ITGAM	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
3684	ITGAM	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
3684	ITGAM	HP:0045073	Serositis	HP:0040283	ORPHA:536
3684	ITGAM	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
3684	ITGAM	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
3684	ITGAM	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
3684	ITGAM	HP:0001596	Alopecia	HP:0040282	ORPHA:536
3684	ITGAM	HP:0012378	Fatigue	HP:0040281	ORPHA:536
3684	ITGAM	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
3684	ITGAM	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
3684	ITGAM	HP:0001824	Weight loss	HP:0040281	ORPHA:536
3684	ITGAM	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
3684	ITGAM	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
3684	ITGAM	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
3689	ITGB2	HP:0007499	Recurrent staphylococcal infections	-	OMIM:116920
3689	ITGB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:116920
3689	ITGB2	HP:0032434	Delayed umbilical cord separation	6/6	OMIM:116920
3689	ITGB2	HP:0032435	Neonatal omphalitis	HP:0040283	OMIM:116920
3689	ITGB2	HP:0002754	Osteomyelitis	1/12	OMIM:116920
3689	ITGB2	HP:0002719	Recurrent infections	1/1	OMIM:116920
3689	ITGB2	HP:0002718	Recurrent bacterial infections	1/1	OMIM:116920
3689	ITGB2	HP:0002728	Chronic mucocutaneous candidiasis	1/1	OMIM:116920
3689	ITGB2	HP:0002028	Chronic diarrhea	1/1	OMIM:116920
3689	ITGB2	HP:0011899	Hyperfibrinogenemia	1/1	OMIM:116920
3689	ITGB2	HP:0001058	Poor wound healing	-	OMIM:116920
3689	ITGB2	HP:0200042	Skin ulcer	5/19	OMIM:116920
3689	ITGB2	HP:0003623	Neonatal onset	1/1	OMIM:116920
3689	ITGB2	HP:0001974	Increased total leukocyte count	32/32	OMIM:116920
3689	ITGB2	HP:0000704	Periodontitis	-	OMIM:116920
3689	ITGB2	HP:0000230	Gingivitis	1/1	OMIM:116920
3689	ITGB2	HP:0005224	Rectal abscess	-	OMIM:116920
3689	ITGB2	HP:0005420	Recurrent gram-negative bacterial infections	-	OMIM:116920
3689	ITGB2	HP:0011227	Elevated circulating C-reactive protein concentration	1/1	OMIM:116920
3690	ITGB3	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040284	ORPHA:853
3690	ITGB3	HP:0001263	Global developmental delay	HP:0040284	ORPHA:853
3690	ITGB3	HP:0007420	Spontaneous hematomas	HP:0040283	ORPHA:849
3690	ITGB3	HP:0007420	Spontaneous hematomas	HP:0040282	ORPHA:853
3690	ITGB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619267
3690	ITGB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:619271
3690	ITGB3	HP:0032438	Platelet anisocytosis	15/15	OMIM:619271
3690	ITGB3	HP:0031126	Impaired clot retraction	35/37	OMIM:619267
3690	ITGB3	HP:0031128	Impaired collagen-related peptide-induced platelet aggregation	-	ORPHA:849
3690	ITGB3	HP:0006298	Prolonged bleeding after dental extraction	-	OMIM:619267
3690	ITGB3	HP:0000132	Menorrhagia	1/1	OMIM:619271
3690	ITGB3	HP:0000132	Menorrhagia	HP:0040283	ORPHA:849
3690	ITGB3	HP:0000132	Menorrhagia	11/11	OMIM:619267
3690	ITGB3	HP:0008148	Impaired epinephrine-induced platelet aggregation	2/2	OMIM:619271
3690	ITGB3	HP:0008148	Impaired epinephrine-induced platelet aggregation	-	ORPHA:849
3690	ITGB3	HP:0008148	Impaired epinephrine-induced platelet aggregation	40/40	OMIM:619267
3690	ITGB3	HP:0002138	Subarachnoid hemorrhage	HP:0040284	ORPHA:853
3690	ITGB3	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:853
3690	ITGB3	HP:0011894	Impaired thromboxane A2 agonist-induced platelet aggregation	-	ORPHA:849
3690	ITGB3	HP:0011877	Increased mean platelet volume	8/8	OMIM:619271
3690	ITGB3	HP:0011872	Impaired thrombin-induced platelet aggregation	-	ORPHA:849
3690	ITGB3	HP:0011870	Impaired arachidonic acid-induced platelet aggregation	2/2	OMIM:619271
3690	ITGB3	HP:0011870	Impaired arachidonic acid-induced platelet aggregation	-	ORPHA:849
3690	ITGB3	HP:0011871	Impaired ristocetin-induced platelet aggregation	0/2	OMIM:619271
3690	ITGB3	HP:0011871	Impaired ristocetin-induced platelet aggregation	HP:0040284	ORPHA:849
3690	ITGB3	HP:0011871	Impaired ristocetin-induced platelet aggregation	0/40	OMIM:619267
3690	ITGB3	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:849
3690	ITGB3	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:853
3690	ITGB3	HP:0002249	Melena	HP:0040283	ORPHA:853
3690	ITGB3	HP:0004866	Impaired ADP-induced platelet aggregation	6/6	OMIM:619271
3690	ITGB3	HP:0004866	Impaired ADP-induced platelet aggregation	40/40	OMIM:619267
3690	ITGB3	HP:0004866	Impaired ADP-induced platelet aggregation	-	ORPHA:849
3690	ITGB3	HP:0008320	Impaired collagen-induced platelet aggregation	5/5	OMIM:619271
3690	ITGB3	HP:0008320	Impaired collagen-induced platelet aggregation	40/40	OMIM:619267
3690	ITGB3	HP:0004846	Prolonged bleeding after surgery	-	OMIM:619267
3690	ITGB3	HP:0004846	Prolonged bleeding after surgery	HP:0040282	ORPHA:849
3690	ITGB3	HP:0004809	Neonatal alloimmune thrombocytopenia	HP:0040280	ORPHA:853
3690	ITGB3	HP:0003623	Neonatal onset	1/1	OMIM:619267
3690	ITGB3	HP:0001975	Decreased platelet glycoprotein IIb-IIIa	21/27	OMIM:619267
3690	ITGB3	HP:0000618	Blindness	HP:0040284	ORPHA:853
3690	ITGB3	HP:0003010	Prolonged bleeding time	HP:0040281	ORPHA:849
3690	ITGB3	HP:0003010	Prolonged bleeding time	-	OMIM:619267
3690	ITGB3	HP:0400008	Menometrorrhagia	HP:0040283	ORPHA:849
3690	ITGB3	HP:0100021	Cerebral palsy	HP:0040284	ORPHA:853
3690	ITGB3	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:853
3690	ITGB3	HP:0000790	Hematuria	HP:0040283	ORPHA:853
3690	ITGB3	HP:0004406	Spontaneous, recurrent epistaxis	HP:0040281	ORPHA:849
3690	ITGB3	HP:0000979	Purpura	HP:0040282	ORPHA:853
3690	ITGB3	HP:0000979	Purpura	HP:0040283	ORPHA:849
3690	ITGB3	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:849
3690	ITGB3	HP:0000978	Bruising susceptibility	11/11	OMIM:619267
3690	ITGB3	HP:0000967	Petechiae	HP:0040282	ORPHA:853
3690	ITGB3	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:849
3690	ITGB3	HP:0031364	Ecchymosis	HP:0040283	ORPHA:849
3690	ITGB3	HP:0031364	Ecchymosis	HP:0040283	ORPHA:853
3690	ITGB3	HP:0030137	Prolonged bleeding following circumcision	HP:0040282	ORPHA:849
3690	ITGB3	HP:0000421	Epistaxis	-	OMIM:619267
3690	ITGB3	HP:0012587	Macroscopic hematuria	HP:0040283	ORPHA:849
3690	ITGB3	HP:0001892	Abnormal bleeding	10/15	OMIM:619271
3690	ITGB3	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:853
3690	ITGB3	HP:0001892	Abnormal bleeding	1/1	OMIM:619267
3690	ITGB3	HP:0012541	Cephalohematoma	HP:0040282	ORPHA:853
3690	ITGB3	HP:0001873	Thrombocytopenia	15/15	OMIM:619271
3691	ITGB4	HP:0008551	Microtia	HP:0040283	ORPHA:158684
3691	ITGB4	HP:0002555	Absent pubic hair	1/2	OMIM:619816
3691	ITGB4	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:1114
3691	ITGB4	HP:0031045	Acral blistering	HP:0040282	ORPHA:251393
3691	ITGB4	HP:0007383	Congenital localized absence of skin	HP:0040281	ORPHA:1114
3691	ITGB4	HP:0007385	Aplasia cutis congenita of scalp	HP:0040283	ORPHA:158684
3691	ITGB4	HP:0008661	Urethral stenosis	1/1	OMIM:619816
3691	ITGB4	HP:0000096	Glomerular sclerosis	HP:0040283	ORPHA:158684
3691	ITGB4	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:158684
3691	ITGB4	HP:0000075	Renal duplication	HP:0040282	ORPHA:79403
3691	ITGB4	HP:0000075	Renal duplication	HP:0040283	ORPHA:158684
3691	ITGB4	HP:0000070	Ureterocele	HP:0040282	ORPHA:79403
3691	ITGB4	HP:0000070	Ureterocele	HP:0040283	ORPHA:158684
3691	ITGB4	HP:0001371	Flexion contracture	HP:0040283	ORPHA:158684
3691	ITGB4	HP:0001362	Calvarial skull defect	HP:0040281	ORPHA:1114
3691	ITGB4	HP:0000007	Autosomal recessive inheritance	-	OMIM:226730
3691	ITGB4	HP:0000007	Autosomal recessive inheritance	-	OMIM:619816
3691	ITGB4	HP:0006357	Premature loss of permanent teeth	1/1	OMIM:619816
3691	ITGB4	HP:0006297	Enamel hypoplasia	-	OMIM:226730
3691	ITGB4	HP:0006297	Enamel hypoplasia	HP:0040282	ORPHA:79403
3691	ITGB4	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:79402
3691	ITGB4	HP:0006297	Enamel hypoplasia	HP:0040282	ORPHA:251393
3691	ITGB4	HP:0007585	Skin fragility with non-scarring blistering	HP:0040282	ORPHA:158684
3691	ITGB4	HP:0007589	Aplasia cutis congenita on trunk or limbs	1/1	OMIM:226730
3691	ITGB4	HP:0007589	Aplasia cutis congenita on trunk or limbs	HP:0040283	ORPHA:158684
3691	ITGB4	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:158684
3691	ITGB4	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:79403
3691	ITGB4	HP:0000110	Renal dysplasia	HP:0040283	ORPHA:158684
3691	ITGB4	HP:0000110	Renal dysplasia	HP:0040282	ORPHA:79403
3691	ITGB4	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:79403
3691	ITGB4	HP:0002032	Esophageal atresia	-	OMIM:226730
3691	ITGB4	HP:0002013	Vomiting	HP:0040282	ORPHA:158684
3691	ITGB4	HP:0003341	Lamina lucida cleavage	2/2	OMIM:226730
3691	ITGB4	HP:0003341	Lamina lucida cleavage	HP:0040282	ORPHA:158684
3691	ITGB4	HP:0003341	Lamina lucida cleavage	1/1	OMIM:619816
3691	ITGB4	HP:0002041	Intractable diarrhea	-	OMIM:226730
3691	ITGB4	HP:0100577	Urinary bladder inflammation	HP:0040282	ORPHA:79403
3691	ITGB4	HP:0010477	Aplasia of the bladder	HP:0040282	ORPHA:79403
3691	ITGB4	HP:0010477	Aplasia of the bladder	HP:0040283	ORPHA:158684
3691	ITGB4	HP:0002164	Nail dysplasia	-	OMIM:226730
3691	ITGB4	HP:0003577	Congenital onset	2/2	OMIM:619816
3691	ITGB4	HP:0003577	Congenital onset	2/2	OMIM:226730
3691	ITGB4	HP:0002221	Absent axillary hair	1/2	OMIM:619816
3691	ITGB4	HP:0002215	Sparse axillary hair	HP:0040282	ORPHA:251393
3691	ITGB4	HP:0002231	Sparse body hair	HP:0040281	ORPHA:79402
3691	ITGB4	HP:0003560	Muscular dystrophy	HP:0040283	ORPHA:158684
3691	ITGB4	HP:0002225	Sparse pubic hair	HP:0040282	ORPHA:251393
3691	ITGB4	HP:0008400	Onycholysis of distal fingernails	1/1	OMIM:619816
3691	ITGB4	HP:0008404	Nail dystrophy	-	OMIM:226730
3691	ITGB4	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:158684
3691	ITGB4	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:79403
3691	ITGB4	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:79402
3691	ITGB4	HP:0008404	Nail dystrophy	1/1	OMIM:619816
3691	ITGB4	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:251393
3691	ITGB4	HP:0009722	Dental enamel pits	HP:0040282	ORPHA:251393
3691	ITGB4	HP:0002293	Alopecia of scalp	0/1	OMIM:619816
3691	ITGB4	HP:0200097	Oral mucosal blisters	1/1	OMIM:226730
3691	ITGB4	HP:0200097	Oral mucosal blisters	HP:0040282	ORPHA:158684
3691	ITGB4	HP:0200097	Oral mucosal blisters	HP:0040281	ORPHA:79402
3691	ITGB4	HP:0200097	Oral mucosal blisters	HP:0040281	ORPHA:79403
3691	ITGB4	HP:0010628	Facial palsy	HP:0040283	ORPHA:1114
3691	ITGB4	HP:0008391	Dystrophic fingernails	HP:0040283	ORPHA:251393
3691	ITGB4	HP:0001056	Milia	-	OMIM:226730
3691	ITGB4	HP:0001056	Milia	HP:0040283	ORPHA:158684
3691	ITGB4	HP:0001056	Milia	HP:0040281	ORPHA:79402
3691	ITGB4	HP:0001056	Milia	HP:0040284	ORPHA:251393
3691	ITGB4	HP:0001057	Aplasia cutis congenita	HP:0040282	ORPHA:158684
3691	ITGB4	HP:0001057	Aplasia cutis congenita	HP:0040281	ORPHA:79402
3691	ITGB4	HP:0001057	Aplasia cutis congenita	HP:0040283	ORPHA:79403
3691	ITGB4	HP:0001057	Aplasia cutis congenita	HP:0040281	ORPHA:1114
3691	ITGB4	HP:0001057	Aplasia cutis congenita	HP:0040283	ORPHA:251393
3691	ITGB4	HP:0001060	Axillary pterygium	-	OMIM:226730
3691	ITGB4	HP:0001059	Pterygium	HP:0040283	ORPHA:79403
3691	ITGB4	HP:0001030	Fragile skin	-	OMIM:226730
3691	ITGB4	HP:0001030	Fragile skin	HP:0040282	ORPHA:158684
3691	ITGB4	HP:0001030	Fragile skin	HP:0040281	ORPHA:251393
3691	ITGB4	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:79402
3691	ITGB4	HP:0001075	Atrophic scars	-	OMIM:226730
3691	ITGB4	HP:0001075	Atrophic scars	HP:0040283	ORPHA:158684
3691	ITGB4	HP:0001075	Atrophic scars	HP:0040281	ORPHA:79402
3691	ITGB4	HP:0200042	Skin ulcer	HP:0040282	ORPHA:1114
3691	ITGB4	HP:0200041	Skin erosion	HP:0040282	ORPHA:158684
3691	ITGB4	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	2/2	OMIM:619816
3691	ITGB4	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3/3	OMIM:226730
3691	ITGB4	HP:0010783	Erythema	HP:0040283	ORPHA:1114
3691	ITGB4	HP:0032156	Skin detachment	HP:0040282	ORPHA:251393
3691	ITGB4	HP:0001903	Anemia	HP:0040282	ORPHA:79402
3691	ITGB4	HP:0000656	Ectropion	-	OMIM:226730
3691	ITGB4	HP:0000656	Ectropion	HP:0040283	ORPHA:79403
3691	ITGB4	HP:0004399	Congenital pyloric atresia	HP:0040281	ORPHA:79403
3691	ITGB4	HP:0004399	Congenital pyloric atresia	1/1	OMIM:226730
3691	ITGB4	HP:0004399	Congenital pyloric atresia	HP:0040282	ORPHA:158684
3691	ITGB4	HP:0034193	Stratum basale cleavage	1/1	OMIM:619816
3691	ITGB4	HP:0003010	Prolonged bleeding time	HP:0040283	ORPHA:1114
3691	ITGB4	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:1114
3691	ITGB4	HP:0000795	Abnormality of the urethra	HP:0040283	ORPHA:158684
3691	ITGB4	HP:0011432	Elevated maternal circulating alpha-fetoprotein concentration	-	OMIM:226730
3691	ITGB4	HP:0000790	Hematuria	HP:0040282	ORPHA:79403
3691	ITGB4	HP:0003121	Limb joint contracture	HP:0040284	ORPHA:251393
3691	ITGB4	HP:0004471	Aplasia cutis congenita over the scalp vertex	HP:0040281	ORPHA:1114
3691	ITGB4	HP:5200061	Tactile hypersensitivity	HP:0040283	ORPHA:1114
3691	ITGB4	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:158684
3691	ITGB4	HP:0004552	Scarring alopecia of scalp	HP:0040283	ORPHA:158684
3691	ITGB4	HP:0004552	Scarring alopecia of scalp	HP:0040283	ORPHA:251393
3691	ITGB4	HP:0004552	Scarring alopecia of scalp	HP:0040281	ORPHA:79402
3691	ITGB4	HP:0004529	Atrophic, patchy alopecia	HP:0040282	ORPHA:251393
3691	ITGB4	HP:0034378	Urethrovesical occlusion	1/1	OMIM:226730
3691	ITGB4	HP:0003270	Abdominal distention	HP:0040282	ORPHA:158684
3691	ITGB4	HP:0003270	Abdominal distention	HP:0040281	ORPHA:79403
3691	ITGB4	HP:0010301	Spinal dysraphism	HP:0040281	ORPHA:1114
3691	ITGB4	HP:0000987	Atypical scarring of skin	HP:0040284	ORPHA:251393
3691	ITGB4	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:79402
3691	ITGB4	HP:0008066	Abnormal blistering of the skin	1/1	OMIM:226730
3691	ITGB4	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:158684
3691	ITGB4	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79403
3691	ITGB4	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79402
3691	ITGB4	HP:0008066	Abnormal blistering of the skin	1/1	OMIM:619816
3691	ITGB4	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:251393
3691	ITGB4	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:226730
3691	ITGB4	HP:0012227	Urethral stricture	HP:0040282	ORPHA:79403
3691	ITGB4	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:79403
3691	ITGB4	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:158684
3691	ITGB4	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:79403
3691	ITGB4	HP:0001561	Polyhydramnios	-	OMIM:226730
3691	ITGB4	HP:0001522	Death in infancy	2/2	OMIM:226730
3691	ITGB4	HP:0001510	Growth delay	HP:0040283	ORPHA:79402
3691	ITGB4	HP:0011073	Abnormality of dental color	HP:0040282	ORPHA:251393
3691	ITGB4	HP:0004057	Mitten deformity	HP:0040284	ORPHA:251393
3691	ITGB4	HP:0001798	Anonychia	-	OMIM:226730
3691	ITGB4	HP:0001798	Anonychia	HP:0040282	ORPHA:79402
3691	ITGB4	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:1114
3691	ITGB4	HP:0011100	Intestinal atresia	HP:0040281	ORPHA:79403
3691	ITGB4	HP:0001805	Onychogryphosis	1/1	OMIM:619816
3691	ITGB4	HP:0001810	Dystrophic toenail	HP:0040283	ORPHA:251393
3694	ITGB6	HP:0001171	Split hand	HP:0040282	ORPHA:2850
3694	ITGB6	HP:0001156	Brachydactyly	HP:0040282	ORPHA:2850
3694	ITGB6	HP:0001250	Seizure	HP:0040282	ORPHA:2850
3694	ITGB6	HP:0001252	Hypotonia	HP:0040281	ORPHA:2850
3694	ITGB6	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2850
3694	ITGB6	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:2850
3694	ITGB6	HP:0001371	Flexion contracture	HP:0040283	ORPHA:2850
3694	ITGB6	HP:0000007	Autosomal recessive inheritance	-	OMIM:616221
3694	ITGB6	HP:0002650	Scoliosis	HP:0040283	ORPHA:2850
3694	ITGB6	HP:0006297	Enamel hypoplasia	-	OMIM:616221
3694	ITGB6	HP:0006286	Yellow-brown discoloration of the teeth	-	OMIM:616221
3694	ITGB6	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2850
3694	ITGB6	HP:0011842	Abnormal skeletal morphology	HP:0040282	ORPHA:2850
3694	ITGB6	HP:0002231	Sparse body hair	HP:0040281	ORPHA:2850
3694	ITGB6	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:2850
3694	ITGB6	HP:0009722	Dental enamel pits	-	OMIM:616221
3694	ITGB6	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2850
3694	ITGB6	HP:0200012	Short corpus callosum	HP:0040282	ORPHA:2850
3694	ITGB6	HP:0000613	Photophobia	HP:0040282	ORPHA:2850
3694	ITGB6	HP:0004322	Short stature	HP:0040282	ORPHA:2850
3694	ITGB6	HP:0009102	Anterior open-bite malocclusion	12/20	OMIM:616221
3694	ITGB6	HP:0000705	Amelogenesis imperfecta	-	OMIM:616221
3694	ITGB6	HP:0000815	Hypergonadotropic hypogonadism	HP:0040282	ORPHA:2850
3694	ITGB6	HP:0008064	Ichthyosis	HP:0040282	ORPHA:2850
3694	ITGB6	HP:0001596	Alopecia	HP:0040281	ORPHA:2850
3694	ITGB6	HP:0005105	Abnormal nasal morphology	HP:0040283	ORPHA:2850
3694	ITGB6	HP:0000252	Microcephaly	HP:0040281	ORPHA:2850
3694	ITGB6	HP:0001510	Growth delay	HP:0040282	ORPHA:2850
3694	ITGB6	HP:0000365	Hearing impairment	HP:0040281	ORPHA:2850
3694	ITGB6	HP:0000400	Macrotia	HP:0040283	ORPHA:2850
3702	ITK	HP:0032218	Decreased proportion of CD4-positive T cells	2/2	OMIM:613011
3702	ITK	HP:0000007	Autosomal recessive inheritance	-	OMIM:613011
3702	ITK	HP:0012191	B-cell lymphoma	1/2	OMIM:613011
3702	ITK	HP:0012189	Hodgkin lymphoma	4/5	OMIM:613011
3702	ITK	HP:0012156	Hemophagocytosis	0/2	OMIM:613011
3702	ITK	HP:0002719	Recurrent infections	3/3	OMIM:613011
3702	ITK	HP:0002716	Lymphadenopathy	4/4	OMIM:613011
3702	ITK	HP:0002240	Hepatomegaly	2/2	OMIM:613011
3702	ITK	HP:0003565	Elevated erythrocyte sedimentation rate	-	OMIM:613011
3702	ITK	HP:0002202	Pleural effusion	2/2	OMIM:613011
3702	ITK	HP:0020072	Persistent EBV viremia	5/5	OMIM:613011
3702	ITK	HP:0003621	Juvenile onset	4/4	OMIM:613011
3702	ITK	HP:0005523	Lymphoproliferative disorder	1/2	OMIM:613011
3702	ITK	HP:0001973	Autoimmune thrombocytopenia	1/2	OMIM:613011
3702	ITK	HP:0001954	Recurrent fever	4/4	OMIM:613011
3702	ITK	HP:0001903	Anemia	-	OMIM:613011
3702	ITK	HP:0004315	Decreased circulating IgG concentration	2/3	OMIM:613011
3702	ITK	HP:0004313	Decreased circulating immunoglobulin concentration	2/4	OMIM:613011
3702	ITK	HP:0011463	Childhood onset	3/3	OMIM:613011
3702	ITK	HP:0010280	Stomatitis	1/2	OMIM:613011
3702	ITK	HP:0003281	Increased circulating ferritin concentration	2/2	OMIM:613011
3702	ITK	HP:0001698	Pericardial effusion	2/2	OMIM:613011
3702	ITK	HP:0002960	Autoimmunity	-	OMIM:613011
3702	ITK	HP:0001744	Splenomegaly	2/2	OMIM:613011
3702	ITK	HP:0011227	Elevated circulating C-reactive protein concentration	2/2	OMIM:613011
3702	ITK	HP:0001890	Autoimmune hemolytic anemia	1/2	OMIM:613011
3702	ITK	HP:0001882	Decreased total leukocyte count	2/2	OMIM:613011
3702	ITK	HP:0001873	Thrombocytopenia	-	OMIM:613011
3702	ITK	HP:0001876	Pancytopenia	1/2	OMIM:613011
3703	STT3A	HP:0009890	High anterior hairline	9/16	OMIM:619714
3703	STT3A	HP:0003712	Skeletal muscle hypertrophy	4/15	OMIM:619714
3703	STT3A	HP:0001290	Generalized hypotonia	HP:0040280	ORPHA:370921
3703	STT3A	HP:0001276	Hypertonia	5/15	OMIM:619714
3703	STT3A	HP:0001272	Cerebellar atrophy	2/2	OMIM:615596
3703	STT3A	HP:0001272	Cerebellar atrophy	HP:0040280	ORPHA:370921
3703	STT3A	HP:0001270	Motor delay	9/13	OMIM:619714
3703	STT3A	HP:0001250	Seizure	2/2	OMIM:615596
3703	STT3A	HP:0001250	Seizure	HP:0040280	ORPHA:370921
3703	STT3A	HP:0001252	Hypotonia	2/2	OMIM:615596
3703	STT3A	HP:0001249	Intellectual disability	2/2	OMIM:615596
3703	STT3A	HP:0001249	Intellectual disability	9/15	OMIM:619714
3703	STT3A	HP:0001249	Intellectual disability	HP:0040280	ORPHA:370921
3703	STT3A	HP:0001263	Global developmental delay	2/2	OMIM:615596
3703	STT3A	HP:0001263	Global developmental delay	HP:0040280	ORPHA:370921
3703	STT3A	HP:0000046	Small scrotum	HP:0040282	ORPHA:370921
3703	STT3A	HP:0000054	Micropenis	HP:0040282	ORPHA:370921
3703	STT3A	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:370921
3703	STT3A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615596
3703	STT3A	HP:0000006	Autosomal dominant inheritance	-	OMIM:619714
3703	STT3A	HP:0002758	Osteoarthritis	4/15	OMIM:619714
3703	STT3A	HP:0003394	Muscle spasm	7/16	OMIM:619714
3703	STT3A	HP:0003596	Middle age onset	1/16	OMIM:619714
3703	STT3A	HP:0003593	Infantile onset	2/2	OMIM:615596
3703	STT3A	HP:0003593	Infantile onset	4/16	OMIM:619714
3703	STT3A	HP:0100702	Arachnoid cyst	1/16	OMIM:619714
3703	STT3A	HP:0011968	Feeding difficulties	2/2	OMIM:615596
3703	STT3A	HP:0011968	Feeding difficulties	HP:0040280	ORPHA:370921
3703	STT3A	HP:0002389	Cavum septum pellucidum	1/3	OMIM:619714
3703	STT3A	HP:0003623	Neonatal onset	1/16	OMIM:619714
3703	STT3A	HP:0003621	Juvenile onset	3/16	OMIM:619714
3703	STT3A	HP:0004322	Short stature	3/16	OMIM:619714
3703	STT3A	HP:0400004	Long ear	2/16	OMIM:619714
3703	STT3A	HP:0012745	Short palpebral fissure	6/16	OMIM:619714
3703	STT3A	HP:0000750	Delayed speech and language development	7/13	OMIM:619714
3703	STT3A	HP:0000718	Aggressive behavior	2/14	OMIM:619714
3703	STT3A	HP:0011463	Childhood onset	1/16	OMIM:619714
3703	STT3A	HP:0011462	Young adult onset	6/16	OMIM:619714
3703	STT3A	HP:0100309	Subdural hemorrhage	1/16	OMIM:619714
3703	STT3A	HP:0003186	Inverted nipples	4/16	OMIM:619714
3703	STT3A	HP:0000256	Macrocephaly	3/16	OMIM:619714
3703	STT3A	HP:0000276	Long face	3/16	OMIM:619714
3703	STT3A	HP:0007772	Impaired smooth pursuit	HP:0040282	ORPHA:370921
3703	STT3A	HP:0000252	Microcephaly	2/2	OMIM:615596
3703	STT3A	HP:0000252	Microcephaly	1/16	OMIM:619714
3703	STT3A	HP:0000252	Microcephaly	HP:0040280	ORPHA:370921
3703	STT3A	HP:0000219	Thin upper lip vermilion	8/16	OMIM:619714
3703	STT3A	HP:0001508	Failure to thrive	2/2	OMIM:615596
3703	STT3A	HP:0001508	Failure to thrive	HP:0040280	ORPHA:370921
3703	STT3A	HP:0001511	Intrauterine growth retardation	2/16	OMIM:619714
3703	STT3A	HP:0012345	Abnormal glycosylation	2/2	OMIM:615596
3703	STT3A	HP:0012345	Abnormal glycosylation	HP:0040280	ORPHA:370921
3703	STT3A	HP:0000303	Mandibular prognathia	5/16	OMIM:619714
3703	STT3A	HP:0000486	Strabismus	2/14	OMIM:619714
3703	STT3A	HP:0000431	Wide nasal bridge	6/16	OMIM:619714
3704	ITPA	HP:6000510	Elevated erythrocyte inosine triphosphate concentration	6/6	OMIM:613850
3704	ITPA	HP:6000511	Reduced erythrocyte inosine triphosphatase activity	6/6	OMIM:613850
3704	ITPA	HP:0001298	Encephalopathy	-	OMIM:616647
3704	ITPA	HP:0001250	Seizure	7/7	OMIM:616647
3704	ITPA	HP:0001263	Global developmental delay	6/6	OMIM:616647
3704	ITPA	HP:0000007	Autosomal recessive inheritance	-	OMIM:613850
3704	ITPA	HP:0000007	Autosomal recessive inheritance	-	OMIM:616647
3704	ITPA	HP:0002059	Cerebral atrophy	-	OMIM:616647
3704	ITPA	HP:0002133	Status epilepticus	-	OMIM:616647
3704	ITPA	HP:0002188	Delayed CNS myelination	-	OMIM:616647
3704	ITPA	HP:0003593	Infantile onset	-	OMIM:616647
3704	ITPA	HP:0200085	Limb tremor	-	OMIM:616647
3704	ITPA	HP:0011968	Feeding difficulties	6/7	OMIM:616647
3704	ITPA	HP:0006829	Severe muscular hypotonia	-	OMIM:616647
3704	ITPA	HP:0000737	Irritability	-	OMIM:616647
3704	ITPA	HP:0000252	Microcephaly	5/7	OMIM:616647
3704	ITPA	HP:0001522	Death in infancy	-	OMIM:616647
3704	ITPA	HP:0001511	Intrauterine growth retardation	-	OMIM:616647
3704	ITPA	HP:0001620	Abnormally high-pitched voice	-	OMIM:616647
3704	ITPA	HP:0001638	Cardiomyopathy	HP:0040283	OMIM:616647
3704	ITPA	HP:0012444	Brain atrophy	-	OMIM:616647
3704	ITPA	HP:0000518	Cataract	3/7	OMIM:616647
3708	ITPR1	HP:0002465	Poor speech	2/2	OMIM:117360
3708	ITPR1	HP:0002470	Nonprogressive cerebellar ataxia	12/12	OMIM:117360
3708	ITPR1	HP:0002442	Dyscalculia	2/2	OMIM:117360
3708	ITPR1	HP:0007256	Abnormal pyramidal sign	0/10	OMIM:117360
3708	ITPR1	HP:0007256	Abnormal pyramidal sign	1/6	OMIM:206700
3708	ITPR1	HP:0010862	Delayed fine motor development	HP:0040281	ORPHA:208513
3708	ITPR1	HP:0010862	Delayed fine motor development	1/1	OMIM:117360
3708	ITPR1	HP:0010864	Intellectual disability, severe	1/1	OMIM:206700
3708	ITPR1	HP:0009878	Cerebellar ataxia associated with quadrupedal gait	7/7	OMIM:117360
3708	ITPR1	HP:0002421	Poor head control	4/8	OMIM:117360
3708	ITPR1	HP:0002421	Poor head control	5/5	OMIM:206700
3708	ITPR1	HP:0003763	Bruxism	1/1	OMIM:117360
3708	ITPR1	HP:0002423	Long-tract sign	0/1	OMIM:117360
3708	ITPR1	HP:0002411	Myokymia	3/3	OMIM:117360
3708	ITPR1	HP:0002406	Limb dysmetria	14/14	OMIM:606658
3708	ITPR1	HP:0002406	Limb dysmetria	2/2	OMIM:117360
3708	ITPR1	HP:0002403	Positive Romberg sign	1/1	OMIM:117360
3708	ITPR1	HP:0003701	Proximal muscle weakness	1/2	OMIM:117360
3708	ITPR1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:208513
3708	ITPR1	HP:0001290	Generalized hypotonia	7/7	OMIM:206700
3708	ITPR1	HP:0001290	Generalized hypotonia	10/10	OMIM:117360
3708	ITPR1	HP:0001276	Hypertonia	1/1	OMIM:117360
3708	ITPR1	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:208513
3708	ITPR1	HP:0001272	Cerebellar atrophy	12/12	OMIM:206700
3708	ITPR1	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:98769
3708	ITPR1	HP:0001272	Cerebellar atrophy	21/25	OMIM:117360
3708	ITPR1	HP:0001272	Cerebellar atrophy	4/4	OMIM:606658
3708	ITPR1	HP:0001270	Motor delay	HP:0040282	ORPHA:208513
3708	ITPR1	HP:0001270	Motor delay	14/14	OMIM:117360
3708	ITPR1	HP:0001270	Motor delay	6/6	OMIM:206700
3708	ITPR1	HP:0001288	Gait disturbance	5/5	OMIM:206700
3708	ITPR1	HP:0001288	Gait disturbance	2/2	OMIM:117360
3708	ITPR1	HP:0001288	Gait disturbance	10/10	OMIM:606658
3708	ITPR1	HP:0001256	Intellectual disability, mild	7/7	OMIM:206700
3708	ITPR1	HP:0001256	Intellectual disability, mild	23/23	OMIM:117360
3708	ITPR1	HP:0001250	Seizure	0/13	OMIM:117360
3708	ITPR1	HP:0001250	Seizure	0/4	OMIM:206700
3708	ITPR1	HP:0001252	Hypotonia	HP:0040282	ORPHA:1065
3708	ITPR1	HP:0001252	Hypotonia	23/26	OMIM:117360
3708	ITPR1	HP:0001252	Hypotonia	5/6	OMIM:206700
3708	ITPR1	HP:0001251	Ataxia	HP:0040283	ORPHA:208513
3708	ITPR1	HP:0001251	Ataxia	HP:0040281	ORPHA:1065
3708	ITPR1	HP:0001251	Ataxia	HP:0040281	ORPHA:98769
3708	ITPR1	HP:0001251	Ataxia	30/30	OMIM:117360
3708	ITPR1	HP:0001251	Ataxia	16/16	OMIM:206700
3708	ITPR1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1065
3708	ITPR1	HP:0001249	Intellectual disability	0/5	OMIM:606658
3708	ITPR1	HP:0001249	Intellectual disability	4/8	OMIM:117360
3708	ITPR1	HP:0001249	Intellectual disability	3/4	OMIM:206700
3708	ITPR1	HP:0001260	Dysarthria	HP:0040281	ORPHA:208513
3708	ITPR1	HP:0001260	Dysarthria	24/31	OMIM:117360
3708	ITPR1	HP:0001260	Dysarthria	8/14	OMIM:606658
3708	ITPR1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1065
3708	ITPR1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:208513
3708	ITPR1	HP:0001263	Global developmental delay	9/11	OMIM:117360
3708	ITPR1	HP:0001257	Spasticity	1/9	OMIM:606658
3708	ITPR1	HP:0007366	Atrophy/Degeneration affecting the brainstem	4/8	OMIM:117360
3708	ITPR1	HP:0007369	Atrophy/Degeneration affecting the cerebrum	0/4	OMIM:117360
3708	ITPR1	HP:0007351	Upper limb postural tremor	HP:0040282	ORPHA:98769
3708	ITPR1	HP:0007340	Lower limb muscle weakness	1/2	OMIM:117360
3708	ITPR1	HP:0007338	Hypermetric saccades	7/9	OMIM:606658
3708	ITPR1	HP:0002540	Inability to walk	4/4	OMIM:117360
3708	ITPR1	HP:0002540	Inability to walk	1/1	OMIM:206700
3708	ITPR1	HP:0002522	Areflexia of lower limbs	1/1	OMIM:206700
3708	ITPR1	HP:0002505	Loss of ambulation	1/1	OMIM:117360
3708	ITPR1	HP:0033683	Jaw hyperreflexia	1/1	OMIM:117360
3708	ITPR1	HP:0000089	Renal hypoplasia	1/1	OMIM:117360
3708	ITPR1	HP:0025336	Delayed ability to sit	16/16	OMIM:117360
3708	ITPR1	HP:0025336	Delayed ability to sit	9/9	OMIM:206700
3708	ITPR1	HP:0025335	Delayed ability to stand	2/2	OMIM:117360
3708	ITPR1	HP:0025335	Delayed ability to stand	5/5	OMIM:206700
3708	ITPR1	HP:0001350	Slurred speech	10/10	OMIM:117360
3708	ITPR1	HP:0001350	Slurred speech	4/4	OMIM:206700
3708	ITPR1	HP:0001348	Brisk reflexes	1/1	OMIM:117360
3708	ITPR1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:98769
3708	ITPR1	HP:0001347	Hyperreflexia	4/5	OMIM:117360
3708	ITPR1	HP:0001347	Hyperreflexia	-	OMIM:606658
3708	ITPR1	HP:0000028	Cryptorchidism	1/1	OMIM:117360
3708	ITPR1	HP:0001332	Dystonia	3/3	OMIM:117360
3708	ITPR1	HP:0033725	Thin corpus callosum	1/4	OMIM:206700
3708	ITPR1	HP:0001328	Specific learning disability	2/2	OMIM:206700
3708	ITPR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:206700
3708	ITPR1	HP:0001337	Tremor	4/5	OMIM:117360
3708	ITPR1	HP:0001337	Tremor	1/5	OMIM:606658
3708	ITPR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:606658
3708	ITPR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:117360
3708	ITPR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:206700
3708	ITPR1	HP:0001336	Myoclonus	3/6	OMIM:117360
3708	ITPR1	HP:0001336	Myoclonus	1/1	OMIM:206700
3708	ITPR1	HP:0001310	Dysmetria	24/26	OMIM:117360
3708	ITPR1	HP:0001310	Dysmetria	HP:0040281	ORPHA:208513
3708	ITPR1	HP:0001320	Cerebellar vermis hypoplasia	2/5	OMIM:117360
3708	ITPR1	HP:0002650	Scoliosis	2/2	OMIM:206700
3708	ITPR1	HP:0001321	Cerebellar hypoplasia	3/6	OMIM:117360
3708	ITPR1	HP:0001321	Cerebellar hypoplasia	17/17	OMIM:206700
3708	ITPR1	HP:0001319	Neonatal hypotonia	4/4	OMIM:117360
3708	ITPR1	HP:0007676	Hypoplasia of the iris	1/13	OMIM:117360
3708	ITPR1	HP:0007676	Hypoplasia of the iris	14/14	OMIM:206700
3708	ITPR1	HP:0007663	Reduced visual acuity	1/1	OMIM:206700
3708	ITPR1	HP:0008935	Generalized neonatal hypotonia	1/1	OMIM:117360
3708	ITPR1	HP:0025405	Visual fixation instability	HP:0040283	ORPHA:208513
3708	ITPR1	HP:0002020	Gastroesophageal reflux	2/2	OMIM:206700
3708	ITPR1	HP:0004691	2-3 toe syndactyly	1/1	OMIM:117360
3708	ITPR1	HP:0004689	Short fourth metatarsal	1/1	OMIM:206700
3708	ITPR1	HP:0002002	Deep philtrum	2/2	OMIM:117360
3708	ITPR1	HP:0002015	Dysphagia	0/2	OMIM:206700
3708	ITPR1	HP:0002015	Dysphagia	1/9	OMIM:117360
3708	ITPR1	HP:0002015	Dysphagia	4/9	OMIM:606658
3708	ITPR1	HP:0002007	Frontal bossing	3/3	OMIM:117360
3708	ITPR1	HP:0002080	Intention tremor	HP:0040281	ORPHA:208513
3708	ITPR1	HP:0002080	Intention tremor	13/16	OMIM:117360
3708	ITPR1	HP:0002080	Intention tremor	9/9	OMIM:606658
3708	ITPR1	HP:0100543	Cognitive impairment	4/5	OMIM:117360
3708	ITPR1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:208513
3708	ITPR1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:98769
3708	ITPR1	HP:0002066	Gait ataxia	6/13	OMIM:117360
3708	ITPR1	HP:0002066	Gait ataxia	HP:0040281	ORPHA:208513
3708	ITPR1	HP:0002066	Gait ataxia	1/1	OMIM:606658
3708	ITPR1	HP:0003391	Gowers sign	1/1	OMIM:117360
3708	ITPR1	HP:0002078	Truncal ataxia	6/6	OMIM:117360
3708	ITPR1	HP:0002078	Truncal ataxia	5/5	OMIM:606658
3708	ITPR1	HP:0002075	Dysdiadochokinesis	HP:0040282	ORPHA:208513
3708	ITPR1	HP:0002075	Dysdiadochokinesis	1/10	OMIM:117360
3708	ITPR1	HP:0002072	Chorea	2/5	OMIM:606658
3708	ITPR1	HP:0002070	Limb ataxia	6/15	OMIM:117360
3708	ITPR1	HP:0002070	Limb ataxia	-	OMIM:606658
3708	ITPR1	HP:0002071	Abnormality of extrapyramidal motor function	6/14	OMIM:117360
3708	ITPR1	HP:0002071	Abnormality of extrapyramidal motor function	1/4	OMIM:206700
3708	ITPR1	HP:0002059	Cerebral atrophy	1/1	OMIM:117360
3708	ITPR1	HP:0034435	Abnormal eye contact	2/2	OMIM:117360
3708	ITPR1	HP:0033128	Delayed ability to crawl	2/2	OMIM:117360
3708	ITPR1	HP:0003487	Babinski sign	1/9	OMIM:606658
3708	ITPR1	HP:0002120	Cerebral cortical atrophy	0/2	OMIM:117360
3708	ITPR1	HP:0002119	Ventriculomegaly	1/4	OMIM:206700
3708	ITPR1	HP:0002136	Broad-based gait	2/2	OMIM:117360
3708	ITPR1	HP:0002136	Broad-based gait	2/2	OMIM:606658
3708	ITPR1	HP:0002194	Delayed gross motor development	HP:0040281	ORPHA:208513
3708	ITPR1	HP:0002194	Delayed gross motor development	1/4	OMIM:117360
3708	ITPR1	HP:0002194	Delayed gross motor development	2/2	OMIM:206700
3708	ITPR1	HP:0002168	Scanning speech	-	OMIM:606658
3708	ITPR1	HP:0002168	Scanning speech	HP:0040282	ORPHA:1065
3708	ITPR1	HP:0002169	Clonus	4/6	OMIM:117360
3708	ITPR1	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:1065
3708	ITPR1	HP:0002179	Opisthotonus	1/1	OMIM:117360
3708	ITPR1	HP:0002174	Postural tremor	15/16	OMIM:117360
3708	ITPR1	HP:0002174	Postural tremor	7/9	OMIM:606658
3708	ITPR1	HP:0002174	Postural tremor	2/5	OMIM:206700
3708	ITPR1	HP:0010529	Echolalia	1/1	OMIM:117360
3708	ITPR1	HP:0033257	Delayed ability to walk with support	7/7	OMIM:117360
3708	ITPR1	HP:0008278	Cerebellar cortical atrophy	9/9	OMIM:606658
3708	ITPR1	HP:0003596	Middle age onset	1/3	OMIM:117360
3708	ITPR1	HP:0003596	Middle age onset	8/14	OMIM:606658
3708	ITPR1	HP:0003593	Infantile onset	11/29	OMIM:117360
3708	ITPR1	HP:0003593	Infantile onset	5/14	OMIM:206700
3708	ITPR1	HP:0003577	Congenital onset	26/32	OMIM:117360
3708	ITPR1	HP:0003577	Congenital onset	10/12	OMIM:206700
3708	ITPR1	HP:0100704	Cerebral visual impairment	1/1	OMIM:117360
3708	ITPR1	HP:0100702	Arachnoid cyst	1/1	OMIM:117360
3708	ITPR1	HP:0003584	Late onset	3/14	OMIM:606658
3708	ITPR1	HP:0003581	Adult onset	-	OMIM:606658
3708	ITPR1	HP:0011968	Feeding difficulties	1/1	OMIM:117360
3708	ITPR1	HP:0430025	Bilateral facial palsy	1/1	OMIM:117360
3708	ITPR1	HP:0020045	Esodeviation	2/2	OMIM:117360
3708	ITPR1	HP:0020049	Exodeviation	1/1	OMIM:117360
3708	ITPR1	HP:0002384	Focal impaired awareness seizure	2/4	OMIM:117360
3708	ITPR1	HP:0003698	Difficulty standing	4/4	OMIM:117360
3708	ITPR1	HP:0002376	Developmental regression	0/1	OMIM:117360
3708	ITPR1	HP:0002345	Action tremor	-	OMIM:606658
3708	ITPR1	HP:0002345	Action tremor	HP:0040282	ORPHA:98769
3708	ITPR1	HP:0002345	Action tremor	1/1	OMIM:117360
3708	ITPR1	HP:0003676	Progressive	2/10	OMIM:117360
3708	ITPR1	HP:0002342	Intellectual disability, moderate	7/7	OMIM:117360
3708	ITPR1	HP:0002342	Intellectual disability, moderate	2/2	OMIM:206700
3708	ITPR1	HP:0002346	Head tremor	HP:0040282	ORPHA:98769
3708	ITPR1	HP:0002346	Head tremor	6/6	OMIM:117360
3708	ITPR1	HP:0003677	Slowly progressive	-	OMIM:606658
3708	ITPR1	HP:0100660	Dyskinesia	1/1	OMIM:606658
3708	ITPR1	HP:0009830	Peripheral neuropathy	0/8	OMIM:117360
3708	ITPR1	HP:0009830	Peripheral neuropathy	0/3	OMIM:206700
3708	ITPR1	HP:0001081	Cholelithiasis	1/1	OMIM:206700
3708	ITPR1	HP:0009751	Aplasia of the pectoralis major muscle	1/1	OMIM:206700
3708	ITPR1	HP:0002307	Drooling	1/1	OMIM:117360
3708	ITPR1	HP:0003621	Juvenile onset	-	OMIM:606658
3708	ITPR1	HP:0006855	Cerebellar vermis atrophy	HP:0040282	ORPHA:208513
3708	ITPR1	HP:0006855	Cerebellar vermis atrophy	9/15	OMIM:117360
3708	ITPR1	HP:0006855	Cerebellar vermis atrophy	9/9	OMIM:606658
3708	ITPR1	HP:0006855	Cerebellar vermis atrophy	2/2	OMIM:206700
3708	ITPR1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1/1	OMIM:117360
3708	ITPR1	HP:0000640	Gaze-evoked nystagmus	2/4	OMIM:117360
3708	ITPR1	HP:0000640	Gaze-evoked nystagmus	9/13	OMIM:606658
3708	ITPR1	HP:0000639	Nystagmus	HP:0040282	ORPHA:208513
3708	ITPR1	HP:0000639	Nystagmus	32/43	OMIM:117360
3708	ITPR1	HP:0000639	Nystagmus	9/9	OMIM:206700
3708	ITPR1	HP:0000639	Nystagmus	1/1	OMIM:606658
3708	ITPR1	HP:0000641	Dysmetric saccades	-	OMIM:606658
3708	ITPR1	HP:0000617	Abnormality of ocular smooth pursuit	1/1	OMIM:117360
3708	ITPR1	HP:0000616	Miosis	3/3	OMIM:117360
3708	ITPR1	HP:0009049	Peroneal muscle atrophy	1/1	OMIM:117360
3708	ITPR1	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:208513
3708	ITPR1	HP:0000657	Oculomotor apraxia	10/20	OMIM:117360
3708	ITPR1	HP:0000657	Oculomotor apraxia	0/2	OMIM:206700
3708	ITPR1	HP:0001999	Abnormal facial shape	1/1	OMIM:117360
3708	ITPR1	HP:0001999	Abnormal facial shape	1/1	OMIM:206700
3708	ITPR1	HP:0000666	Horizontal nystagmus	1/1	OMIM:117360
3708	ITPR1	HP:0004325	Decreased body weight	1/1	OMIM:117360
3708	ITPR1	HP:0004322	Short stature	4/4	OMIM:117360
3708	ITPR1	HP:0000805	Enuresis	1/1	OMIM:117360
3708	ITPR1	HP:0004396	Poor appetite	1/1	OMIM:117360
3708	ITPR1	HP:0031936	Delayed ability to walk	12/14	OMIM:117360
3708	ITPR1	HP:0031936	Delayed ability to walk	4/4	OMIM:206700
3708	ITPR1	HP:0100021	Cerebral palsy	4/48	OMIM:117360
3708	ITPR1	HP:0100021	Cerebral palsy	0/14	OMIM:606658
3708	ITPR1	HP:0100021	Cerebral palsy	0/16	OMIM:206700
3708	ITPR1	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:1065
3708	ITPR1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:208513
3708	ITPR1	HP:0000750	Delayed speech and language development	7/9	OMIM:117360
3708	ITPR1	HP:0000750	Delayed speech and language development	4/4	OMIM:206700
3708	ITPR1	HP:0000716	Depression	1/1	OMIM:206700
3708	ITPR1	HP:0011463	Childhood onset	9/12	OMIM:117360
3708	ITPR1	HP:0011462	Young adult onset	3/9	OMIM:606658
3708	ITPR1	HP:0012758	Neurodevelopmental delay	0/14	OMIM:606658
3708	ITPR1	HP:0004414	Abnormality of the pulmonary artery	HP:0040283	ORPHA:1065
3708	ITPR1	HP:0004428	Elfin facies	2/2	OMIM:117360
3708	ITPR1	HP:0004425	Flat forehead	1/1	OMIM:117360
3708	ITPR1	HP:0000826	Precocious puberty	1/1	OMIM:206700
3708	ITPR1	HP:0012896	Abnormal motor evoked potentials	0/2	OMIM:117360
3708	ITPR1	HP:0100275	Diffuse cerebellar atrophy	3/14	OMIM:117360
3708	ITPR1	HP:0100275	Diffuse cerebellar atrophy	1/2	OMIM:206700
3708	ITPR1	HP:0000298	Mask-like facies	HP:0040281	ORPHA:1065
3708	ITPR1	HP:0007772	Impaired smooth pursuit	-	OMIM:606658
3708	ITPR1	HP:0007750	Hypoplasia of the fovea	1/2	OMIM:206700
3708	ITPR1	HP:0002808	Kyphosis	1/1	OMIM:206700
3708	ITPR1	HP:0001583	Rotary nystagmus	1/1	OMIM:117360
3708	ITPR1	HP:0000252	Microcephaly	3/4	OMIM:117360
3708	ITPR1	HP:0000218	High palate	2/2	OMIM:117360
3708	ITPR1	HP:0030011	Imperforate hymen	1/1	OMIM:206700
3708	ITPR1	HP:0001518	Small for gestational age	2/2	OMIM:117360
3708	ITPR1	HP:0001510	Growth delay	1/1	OMIM:206700
3708	ITPR1	HP:0011094	Increased overbite	1/1	OMIM:117360
3708	ITPR1	HP:0007885	Slowed horizontal saccades	2/2	OMIM:117360
3708	ITPR1	HP:0007859	Congenital horizontal nystagmus	1/1	OMIM:117360
3708	ITPR1	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0/4	OMIM:117360
3708	ITPR1	HP:0030188	Tremor by anatomical site	HP:0040282	ORPHA:98769
3708	ITPR1	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:1065
3708	ITPR1	HP:0001642	Pulmonic stenosis	1/1	OMIM:117360
3708	ITPR1	HP:0001642	Pulmonic stenosis	1/1	OMIM:206700
3708	ITPR1	HP:0001660	Truncus arteriosus	1/5	OMIM:206700
3708	ITPR1	HP:0030147	Truncal titubation	2/4	OMIM:117360
3708	ITPR1	HP:0031491	Continuous spike and waves during slow sleep	2/2	OMIM:117360
3708	ITPR1	HP:0001627	Abnormal heart morphology	1/1	OMIM:117360
3708	ITPR1	HP:0001631	Atrial septal defect	1/1	OMIM:117360
3708	ITPR1	HP:0007928	Abnormal flash visual evoked potentials	1/2	OMIM:206700
3708	ITPR1	HP:0031629	Impaired tandem gait	1/1	OMIM:606658
3708	ITPR1	HP:0031629	Impaired tandem gait	11/11	OMIM:117360
3708	ITPR1	HP:0032988	Persistent head lag	1/1	OMIM:117360
3708	ITPR1	HP:0007979	Gaze-evoked horizontal nystagmus	-	OMIM:606658
3708	ITPR1	HP:0007979	Gaze-evoked horizontal nystagmus	1/1	OMIM:117360
3708	ITPR1	HP:0000486	Strabismus	3/3	OMIM:117360
3708	ITPR1	HP:0000474	Thickened nuchal skin fold	1/1	OMIM:117360
3708	ITPR1	HP:0012434	Delayed early-childhood social milestone development	HP:0040282	ORPHA:208513
3708	ITPR1	HP:0012428	Prominent calcaneus	1/1	OMIM:117360
3708	ITPR1	HP:0000448	Prominent nose	2/2	OMIM:117360
3708	ITPR1	HP:0005484	Secondary microcephaly	1/1	OMIM:117360
3708	ITPR1	HP:0000514	Slow saccadic eye movements	1/1	OMIM:117360
3708	ITPR1	HP:0000526	Aniridia	HP:0040281	ORPHA:1065
3708	ITPR1	HP:0000526	Aniridia	1/6	OMIM:117360
3708	ITPR1	HP:0000526	Aniridia	6/6	OMIM:206700
3708	ITPR1	HP:0000508	Ptosis	4/4	OMIM:117360
3708	ITPR1	HP:0000508	Ptosis	2/4	OMIM:206700
3708	ITPR1	HP:0000505	Visual impairment	12/12	OMIM:206700
3708	ITPR1	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:117360
3708	ITPR1	HP:0000563	Keratoconus	1/1	OMIM:117360
3708	ITPR1	HP:0000555	Leukocoria	2/3	OMIM:117360
3708	ITPR1	HP:0000571	Hypometric saccades	7/9	OMIM:606658
3708	ITPR1	HP:0000570	Abnormal saccadic eye movements	0/3	OMIM:117360
3708	ITPR1	HP:0000570	Abnormal saccadic eye movements	HP:0040282	ORPHA:208513
3708	ITPR1	HP:0000565	Esotropia	1/1	OMIM:117360
3708	ITPR1	HP:0000540	Hypermetropia	2/2	OMIM:117360
3709	ITPR2	HP:0007459	Generalized anhidrosis	5/5	OMIM:106190
3709	ITPR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:106190
3709	ITPR2	HP:0002046	Heat intolerance	5/5	OMIM:106190
3709	ITPR2	HP:0001595	Abnormal hair morphology	0/5	OMIM:106190
3709	ITPR2	HP:0001507	Growth abnormality	0/5	OMIM:106190
3710	ITPR3	HP:0002460	Distal muscle weakness	4/5	OMIM:620111
3710	ITPR3	HP:0001288	Gait disturbance	4/4	OMIM:620111
3710	ITPR3	HP:0002522	Areflexia of lower limbs	1/1	OMIM:620111
3710	ITPR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:620111
3710	ITPR3	HP:0003393	Thenar muscle atrophy	1/4	OMIM:620111
3710	ITPR3	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:620111
3710	ITPR3	HP:0003596	Middle age onset	1/1	OMIM:620111
3710	ITPR3	HP:0009830	Peripheral neuropathy	1/1	OMIM:620111
3710	ITPR3	HP:0011463	Childhood onset	1/3	OMIM:620111
3710	ITPR3	HP:0011462	Young adult onset	2/3	OMIM:620111
3710	ITPR3	HP:0002936	Distal sensory impairment	5/5	OMIM:620111
3710	ITPR3	HP:0001765	Hammertoe	3/4	OMIM:620111
3710	ITPR3	HP:0001761	Pes cavus	4/4	OMIM:620111
3712	IVD	HP:0002453	Abnormal globus pallidus morphology	HP:0040284	ORPHA:33
3712	IVD	HP:6000602	Elevated urinary isovalerylglycine level	4/4	OMIM:243500
3712	IVD	HP:0001270	Motor delay	HP:0040283	ORPHA:33
3712	IVD	HP:0001289	Confusion	HP:0040283	ORPHA:33
3712	IVD	HP:0001254	Lethargy	HP:0040282	ORPHA:33
3712	IVD	HP:0001254	Lethargy	-	OMIM:243500
3712	IVD	HP:0001250	Seizure	HP:0040282	ORPHA:33
3712	IVD	HP:0001250	Seizure	-	OMIM:243500
3712	IVD	HP:0001252	Hypotonia	HP:0040282	ORPHA:33
3712	IVD	HP:0001249	Intellectual disability	HP:0040282	ORPHA:33
3712	IVD	HP:0001263	Global developmental delay	HP:0040281	ORPHA:33
3712	IVD	HP:0001263	Global developmental delay	-	OMIM:243500
3712	IVD	HP:0001259	Coma	HP:0040283	ORPHA:33
3712	IVD	HP:0001259	Coma	-	OMIM:243500
3712	IVD	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:33
3712	IVD	HP:0000007	Autosomal recessive inheritance	-	OMIM:243500
3712	IVD	HP:0001337	Tremor	HP:0040283	ORPHA:33
3712	IVD	HP:0001310	Dysmetria	HP:0040283	ORPHA:33
3712	IVD	HP:0002013	Vomiting	HP:0040282	ORPHA:33
3712	IVD	HP:0002013	Vomiting	-	OMIM:243500
3712	IVD	HP:0002045	Hypothermia	HP:0040283	ORPHA:33
3712	IVD	HP:0033111	3-hydroxyisovaleric aciduria	HP:0040282	ORPHA:33
3712	IVD	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:33
3712	IVD	HP:0033447	Elevated circulating isovalerylcarnitine concentration	HP:0040282	ORPHA:33
3712	IVD	HP:0005528	Bone marrow hypocellularity	-	OMIM:243500
3712	IVD	HP:6001063	Sweaty foot-like odor	30/30	OMIM:243500
3712	IVD	HP:0001944	Dehydration	-	OMIM:243500
3712	IVD	HP:0001942	Metabolic acidosis	HP:0040281	ORPHA:33
3712	IVD	HP:0001942	Metabolic acidosis	-	OMIM:243500
3712	IVD	HP:0001993	Ketoacidosis	-	OMIM:243500
3712	IVD	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:33
3712	IVD	HP:0001994	Renal Fanconi syndrome	HP:0040284	ORPHA:33
3712	IVD	HP:0031962	Elevated serum anion gap	HP:0040282	ORPHA:33
3712	IVD	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:33
3712	IVD	HP:0003108	Hyperglycinuria	-	OMIM:243500
3712	IVD	HP:4000210	Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts	-	OMIM:243500
3712	IVD	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:33
3712	IVD	HP:0011695	Cerebellar hemorrhage	HP:0040283	OMIM:243500
3712	IVD	HP:0011675	Arrhythmia	HP:0040284	ORPHA:33
3712	IVD	HP:0001508	Failure to thrive	HP:0040282	ORPHA:33
3712	IVD	HP:0002919	Ketonuria	HP:0040282	ORPHA:33
3712	IVD	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:33
3712	IVD	HP:0001735	Acute pancreatitis	HP:0040283	ORPHA:33
3712	IVD	HP:0001824	Weight loss	HP:0040283	ORPHA:33
3712	IVD	HP:0001882	Decreased total leukocyte count	-	OMIM:243500
3712	IVD	HP:0001873	Thrombocytopenia	-	OMIM:243500
3712	IVD	HP:0001876	Pancytopenia	-	OMIM:243500
3714	JAG2	HP:0003712	Skeletal muscle hypertrophy	6/23	OMIM:619566
3714	JAG2	HP:0001256	Intellectual disability, mild	3/23	OMIM:619566
3714	JAG2	HP:0002505	Loss of ambulation	8/23	OMIM:619566
3714	JAG2	HP:0032341	Reduced forced vital capacity	13/20	OMIM:619566
3714	JAG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619566
3714	JAG2	HP:0002650	Scoliosis	12/23	OMIM:619566
3714	JAG2	HP:0008994	Proximal muscle weakness in lower limbs	23/23	OMIM:619566
3714	JAG2	HP:0008997	Proximal muscle weakness in upper limbs	23/23	OMIM:619566
3714	JAG2	HP:0008959	Distal upper limb muscle weakness	15/23	OMIM:619566
3714	JAG2	HP:0003306	Spinal rigidity	7/23	OMIM:619566
3714	JAG2	HP:0003458	EMG: myopathic abnormalities	16/19	OMIM:619566
3714	JAG2	HP:0003593	Infantile onset	4/12	OMIM:619566
3714	JAG2	HP:0003560	Muscular dystrophy	12/14	OMIM:619566
3714	JAG2	HP:0003557	Increased variability in muscle fiber diameter	2/14	OMIM:619566
3714	JAG2	HP:0003676	Progressive	22/23	OMIM:619566
3714	JAG2	HP:0003621	Juvenile onset	2/12	OMIM:619566
3714	JAG2	HP:0009053	Distal lower limb muscle weakness	18/23	OMIM:619566
3714	JAG2	HP:0003044	Shoulder flexion contracture	3/23	OMIM:619566
3714	JAG2	HP:0000750	Delayed speech and language development	3/23	OMIM:619566
3714	JAG2	HP:0000729	Autistic behavior	1/23	OMIM:619566
3714	JAG2	HP:0011463	Childhood onset	3/12	OMIM:619566
3714	JAG2	HP:0011462	Young adult onset	3/12	OMIM:619566
3714	JAG2	HP:0003236	Elevated circulating creatine kinase concentration	10/22	OMIM:619566
3714	JAG2	HP:0003202	Skeletal muscle atrophy	8/23	OMIM:619566
3714	JAG2	HP:0006380	Knee flexion contracture	4/23	OMIM:619566
3714	JAG2	HP:0002987	Elbow flexion contracture	6/23	OMIM:619566
3714	JAG2	HP:0001638	Cardiomyopathy	2/23	OMIM:619566
3714	JAG2	HP:0030319	Weakness of facial musculature	4/23	OMIM:619566
3714	JAG2	HP:0001716	Wolff-Parkinson-White syndrome	1/23	OMIM:619566
3714	JAG2	HP:0000467	Neck muscle weakness	19/23	OMIM:619566
3714	JAG2	HP:0001771	Achilles tendon contracture	11/23	OMIM:619566
3714	JAG2	HP:0000508	Ptosis	4/23	OMIM:619566
3716	JAK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618999
3716	JAK1	HP:0500093	Food allergy	11/11	OMIM:618999
3716	JAK1	HP:0000100	Nephrotic syndrome	1/1	OMIM:618999
3716	JAK1	HP:0001433	Hepatosplenomegaly	-	OMIM:618999
3716	JAK1	HP:0001407	Hepatic cysts	2/2	OMIM:618999
3716	JAK1	HP:0002099	Asthma	1/1	OMIM:618999
3716	JAK1	HP:0032021	Eosinophilic liver infiltration	-	OMIM:618999
3716	JAK1	HP:0001047	Atopic dermatitis	4/4	OMIM:618999
3716	JAK1	HP:0031813	Colonic eosinophilia	1/1	OMIM:618999
3716	JAK1	HP:0004322	Short stature	-	OMIM:618999
3716	JAK1	HP:0004429	Recurrent viral infections	-	OMIM:618999
3716	JAK1	HP:0000821	Hypothyroidism	-	OMIM:618999
3716	JAK1	HP:0001508	Failure to thrive	3/3	OMIM:618999
3716	JAK1	HP:0012578	Membranous nephropathy	1/1	OMIM:618999
3716	JAK1	HP:0001880	Increased total eosinophil count	11/11	OMIM:618999
3717	JAK2	HP:0025142	Constitutional symptom	HP:0040282	ORPHA:824
3717	JAK2	HP:0002488	Acute leukemia	HP:0040283	ORPHA:3318
3717	JAK2	HP:0002488	Acute leukemia	HP:0040281	ORPHA:729
3717	JAK2	HP:0002480	Hepatic encephalopathy	HP:0040283	ORPHA:131
3717	JAK2	HP:0001123	Visual field defect	HP:0040283	ORPHA:71493
3717	JAK2	HP:0003745	Sporadic	-	OMIM:263300
3717	JAK2	HP:0001297	Stroke	HP:0040283	ORPHA:729
3717	JAK2	HP:0001279	Syncope	HP:0040283	ORPHA:71493
3717	JAK2	HP:0002586	Peritonitis	HP:0040283	ORPHA:131
3717	JAK2	HP:0001250	Seizure	HP:0040283	ORPHA:71493
3717	JAK2	HP:0001260	Dysarthria	HP:0040283	ORPHA:71493
3717	JAK2	HP:0031020	Bone marrow hypercellularity	HP:0040283	ORPHA:824
3717	JAK2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:131
3717	JAK2	HP:0001394	Cirrhosis	6/43	OMIM:600880
3717	JAK2	HP:0001394	Cirrhosis	HP:0040282	ORPHA:131
3717	JAK2	HP:0001342	Cerebral hemorrhage	-	OMIM:133100
3717	JAK2	HP:0001342	Cerebral hemorrhage	-	OMIM:263300
3717	JAK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:600880
3717	JAK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614521
3717	JAK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:133100
3717	JAK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:263300
3717	JAK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:601626
3717	JAK2	HP:0002641	Peripheral thrombosis	-	OMIM:133100
3717	JAK2	HP:0002639	Budd-Chiari syndrome	-	OMIM:600880
3717	JAK2	HP:0002639	Budd-Chiari syndrome	HP:0040283	ORPHA:729
3717	JAK2	HP:0002639	Budd-Chiari syndrome	-	OMIM:263300
3717	JAK2	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:71493
3717	JAK2	HP:0002637	Cerebral ischemia	-	OMIM:263300
3717	JAK2	HP:0012156	Hemophagocytosis	0/2	OMIM:254450
3717	JAK2	HP:0012143	Abnormal megakaryocyte morphology	HP:0040282	ORPHA:824
3717	JAK2	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040284	ORPHA:824
3717	JAK2	HP:0033842	Early satiety	HP:0040283	ORPHA:729
3717	JAK2	HP:0001442	Typified by somatic mosaicism	-	OMIM:601626
3717	JAK2	HP:0001442	Typified by somatic mosaicism	-	OMIM:254450
3717	JAK2	HP:0001442	Typified by somatic mosaicism	-	OMIM:263300
3717	JAK2	HP:0001442	Typified by somatic mosaicism	-	OMIM:614521
3717	JAK2	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:824
3717	JAK2	HP:0001409	Portal hypertension	HP:0040283	ORPHA:824
3717	JAK2	HP:0001409	Portal hypertension	HP:0040281	ORPHA:131
3717	JAK2	HP:0001409	Portal hypertension	HP:0040283	ORPHA:729
3717	JAK2	HP:0001402	Hepatocellular carcinoma	-	OMIM:600880
3717	JAK2	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:824
3717	JAK2	HP:0002024	Malabsorption	HP:0040283	ORPHA:131
3717	JAK2	HP:0002027	Abdominal pain	HP:0040281	ORPHA:729
3717	JAK2	HP:0002027	Abdominal pain	HP:0040282	ORPHA:131
3717	JAK2	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:71493
3717	JAK2	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:729
3717	JAK2	HP:0002076	Migraine	HP:0040282	ORPHA:3318
3717	JAK2	HP:0002040	Esophageal varix	HP:0040282	ORPHA:131
3717	JAK2	HP:0002039	Anorexia	HP:0040283	ORPHA:824
3717	JAK2	HP:0003388	Easy fatigability	HP:0040283	ORPHA:824
3717	JAK2	HP:0100576	Amaurosis fugax	HP:0040281	ORPHA:3318
3717	JAK2	HP:0002140	Ischemic stroke	2/6	OMIM:614521
3717	JAK2	HP:0011875	Abnormal platelet morphology	HP:0040281	ORPHA:3318
3717	JAK2	HP:0003401	Paresthesia	HP:0040282	ORPHA:71493
3717	JAK2	HP:0003401	Paresthesia	HP:0040282	ORPHA:729
3717	JAK2	HP:0003401	Paresthesia	HP:0040281	ORPHA:3318
3717	JAK2	HP:0003596	Middle age onset	17/31	OMIM:263300
3717	JAK2	HP:0003593	Infantile onset	2/2	OMIM:254450
3717	JAK2	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:131
3717	JAK2	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:824
3717	JAK2	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:729
3717	JAK2	HP:0002240	Hepatomegaly	2/2	OMIM:254450
3717	JAK2	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:729
3717	JAK2	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:131
3717	JAK2	HP:0002239	Gastrointestinal hemorrhage	-	OMIM:263300
3717	JAK2	HP:0003584	Late onset	13/31	OMIM:263300
3717	JAK2	HP:0003581	Adult onset	-	OMIM:600880
3717	JAK2	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:729
3717	JAK2	HP:0100785	Insomnia	HP:0040282	ORPHA:3318
3717	JAK2	HP:0100749	Chest pain	HP:0040282	ORPHA:71493
3717	JAK2	HP:0100749	Chest pain	HP:0040281	ORPHA:3318
3717	JAK2	HP:0011974	Myelofibrosis	2/2	OMIM:254450
3717	JAK2	HP:0011974	Myelofibrosis	HP:0040283	ORPHA:3318
3717	JAK2	HP:0011974	Myelofibrosis	HP:0040281	ORPHA:729
3717	JAK2	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:71493
3717	JAK2	HP:0004808	Acute myeloid leukemia	-	OMIM:601626
3717	JAK2	HP:0001050	Plethora	-	OMIM:133100
3717	JAK2	HP:0001028	Hemangioma	HP:0040284	ORPHA:824
3717	JAK2	HP:0002321	Vertigo	HP:0040283	ORPHA:71493
3717	JAK2	HP:0002321	Vertigo	HP:0040281	ORPHA:729
3717	JAK2	HP:0002321	Vertigo	-	OMIM:133100
3717	JAK2	HP:0002321	Vertigo	HP:0040282	ORPHA:3318
3717	JAK2	HP:0002315	Headache	HP:0040282	ORPHA:71493
3717	JAK2	HP:0002315	Headache	HP:0040281	ORPHA:729
3717	JAK2	HP:0002315	Headache	-	OMIM:133100
3717	JAK2	HP:0002315	Headache	HP:0040282	ORPHA:3318
3717	JAK2	HP:0002326	Transient ischemic attack	HP:0040282	ORPHA:71493
3717	JAK2	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:3318
3717	JAK2	HP:0100659	Abnormal cerebral vascular morphology	HP:0040281	ORPHA:3318
3717	JAK2	HP:0001082	Cholecystitis	HP:0040283	ORPHA:131
3717	JAK2	HP:0032147	Erythromelalgia	HP:0040283	ORPHA:3318
3717	JAK2	HP:0032147	Erythromelalgia	HP:0040283	ORPHA:729
3717	JAK2	HP:0004936	Venous thrombosis	HP:0040281	ORPHA:71493
3717	JAK2	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:824
3717	JAK2	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:729
3717	JAK2	HP:0004936	Venous thrombosis	HP:0040281	ORPHA:3318
3717	JAK2	HP:0004950	Peripheral arterial stenosis	HP:0040282	ORPHA:71493
3717	JAK2	HP:0005513	Increased megakaryocyte count	HP:0040281	ORPHA:3318
3717	JAK2	HP:0005513	Increased megakaryocyte count	-	OMIM:263300
3717	JAK2	HP:0005506	Chronic myelogenous leukemia	HP:0040283	ORPHA:71493
3717	JAK2	HP:0005547	Myeloproliferative disorder	-	OMIM:254450
3717	JAK2	HP:0005561	Abnormal bone marrow cell morphology	HP:0040281	ORPHA:824
3717	JAK2	HP:0005561	Abnormal bone marrow cell morphology	HP:0040281	ORPHA:3318
3717	JAK2	HP:0001977	Abnormal thrombosis	-	OMIM:263300
3717	JAK2	HP:0001977	Abnormal thrombosis	HP:0040283	ORPHA:824
3717	JAK2	HP:0001978	Extramedullary hematopoiesis	2/2	OMIM:254450
3717	JAK2	HP:0001978	Extramedullary hematopoiesis	HP:0040283	ORPHA:824
3717	JAK2	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:824
3717	JAK2	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:729
3717	JAK2	HP:0001974	Increased total leukocyte count	-	OMIM:263300
3717	JAK2	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:3318
3717	JAK2	HP:0001945	Fever	HP:0040282	ORPHA:131
3717	JAK2	HP:0001945	Fever	HP:0040283	ORPHA:824
3717	JAK2	HP:0001945	Fever	-	OMIM:254450
3717	JAK2	HP:0001907	Thromboembolism	-	OMIM:263300
3717	JAK2	HP:0001903	Anemia	HP:0040282	ORPHA:824
3717	JAK2	HP:0001900	Increased circulating hemoglobin concentration	33/33	OMIM:133100
3717	JAK2	HP:0001900	Increased circulating hemoglobin concentration	-	OMIM:263300
3717	JAK2	HP:0001901	Polycythemia	HP:0040281	ORPHA:729
3717	JAK2	HP:0004326	Cachexia	HP:0040284	ORPHA:824
3717	JAK2	HP:0004377	Hematological neoplasm	HP:0040284	ORPHA:824
3717	JAK2	HP:0003010	Prolonged bleeding time	HP:0040281	ORPHA:3318
3717	JAK2	HP:0004447	Poikilocytosis	HP:0040283	ORPHA:824
3717	JAK2	HP:0004420	Arterial thrombosis	HP:0040281	ORPHA:71493
3717	JAK2	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:729
3717	JAK2	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:824
3717	JAK2	HP:0004420	Arterial thrombosis	HP:0040281	ORPHA:3318
3717	JAK2	HP:0004417	Intermittent claudication	HP:0040283	ORPHA:729
3717	JAK2	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:131
3717	JAK2	HP:0000822	Hypertension	-	OMIM:133100
3717	JAK2	HP:0000822	Hypertension	HP:0040281	ORPHA:729
3717	JAK2	HP:0000980	Pallor	HP:0040282	ORPHA:824
3717	JAK2	HP:0000980	Pallor	2/2	OMIM:254450
3717	JAK2	HP:0000979	Purpura	-	OMIM:254450
3717	JAK2	HP:0000979	Purpura	HP:0040283	ORPHA:824
3717	JAK2	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:71493
3717	JAK2	HP:0000978	Bruising susceptibility	HP:0040281	ORPHA:729
3717	JAK2	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:3318
3717	JAK2	HP:0000989	Pruritus	HP:0040282	ORPHA:71493
3717	JAK2	HP:0000989	Pruritus	HP:0040283	ORPHA:729
3717	JAK2	HP:0000952	Jaundice	HP:0040283	ORPHA:131
3717	JAK2	HP:0000967	Petechiae	HP:0040283	ORPHA:824
3717	JAK2	HP:0033045	Bipedal edema	HP:0040282	ORPHA:131
3717	JAK2	HP:0030057	Autoimmune antibody positivity	-	ORPHA:824
3717	JAK2	HP:0031386	Increased micromegakaryocyte count	-	OMIM:614521
3717	JAK2	HP:0031388	Megakaryocyte nucleus hyperlobulation	HP:0040281	ORPHA:3318
3717	JAK2	HP:0002829	Arthralgia	HP:0040282	ORPHA:729
3717	JAK2	HP:0002875	Exertional dyspnea	-	OMIM:133100
3717	JAK2	HP:0000225	Gingival bleeding	HP:0040281	ORPHA:729
3717	JAK2	HP:0001541	Ascites	HP:0040281	ORPHA:131
3717	JAK2	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:71493
3717	JAK2	HP:0002863	Myelodysplasia	HP:0040281	ORPHA:729
3717	JAK2	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:3318
3717	JAK2	HP:0031364	Ecchymosis	HP:0040283	ORPHA:824
3717	JAK2	HP:0012378	Fatigue	HP:0040282	ORPHA:824
3717	JAK2	HP:0012378	Fatigue	HP:0040282	ORPHA:729
3717	JAK2	HP:0012378	Fatigue	-	OMIM:133100
3717	JAK2	HP:0012378	Fatigue	HP:0040281	ORPHA:3318
3717	JAK2	HP:0005268	Miscarriage	HP:0040283	ORPHA:71493
3717	JAK2	HP:0005244	Gastrointestinal infarctions	HP:0040283	ORPHA:131
3717	JAK2	HP:0005214	Intestinal obstruction	HP:0040283	ORPHA:131
3717	JAK2	HP:0006554	Acute hepatic failure	HP:0040283	ORPHA:131
3717	JAK2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:131
3717	JAK2	HP:0000360	Tinnitus	HP:0040281	ORPHA:729
3717	JAK2	HP:0001681	Angina pectoris	HP:0040281	ORPHA:729
3717	JAK2	HP:0001658	Myocardial infarction	-	OMIM:133100
3717	JAK2	HP:0001658	Myocardial infarction	HP:0040281	ORPHA:3318
3717	JAK2	HP:0030157	Flank pain	HP:0040283	ORPHA:824
3717	JAK2	HP:0011134	Low-grade fever	HP:0040283	ORPHA:824
3717	JAK2	HP:0030243	Hepatic vein thrombosis	HP:0040283	ORPHA:3318
3717	JAK2	HP:0030243	Hepatic vein thrombosis	HP:0040282	ORPHA:131
3717	JAK2	HP:0030242	Portal vein thrombosis	HP:0040283	ORPHA:729
3717	JAK2	HP:0001744	Splenomegaly	-	OMIM:133100
3717	JAK2	HP:0001744	Splenomegaly	HP:0040281	ORPHA:131
3717	JAK2	HP:0001744	Splenomegaly	30/31	OMIM:263300
3717	JAK2	HP:0001744	Splenomegaly	HP:0040282	ORPHA:71493
3717	JAK2	HP:0001744	Splenomegaly	HP:0040282	ORPHA:824
3717	JAK2	HP:0001744	Splenomegaly	HP:0040281	ORPHA:729
3717	JAK2	HP:0001744	Splenomegaly	HP:0040282	ORPHA:3318
3717	JAK2	HP:0001744	Splenomegaly	2/2	OMIM:254450
3717	JAK2	HP:0025709	Intermediate young adult onset	1/31	OMIM:263300
3717	JAK2	HP:0000421	Epistaxis	HP:0040281	ORPHA:729
3717	JAK2	HP:0001824	Weight loss	HP:0040283	ORPHA:71493
3717	JAK2	HP:0001824	Weight loss	HP:0040281	ORPHA:729
3717	JAK2	HP:0001824	Weight loss	HP:0040283	ORPHA:131
3717	JAK2	HP:0000505	Visual impairment	HP:0040283	ORPHA:3318
3717	JAK2	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:729
3717	JAK2	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:71493
3717	JAK2	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:824
3717	JAK2	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:3318
3717	JAK2	HP:0001894	Thrombocytosis	HP:0040281	ORPHA:71493
3717	JAK2	HP:0001894	Thrombocytosis	HP:0040283	ORPHA:824
3717	JAK2	HP:0001894	Thrombocytosis	14/31	OMIM:263300
3717	JAK2	HP:0001894	Thrombocytosis	6/6	OMIM:614521
3717	JAK2	HP:0001894	Thrombocytosis	HP:0040283	ORPHA:729
3717	JAK2	HP:0001894	Thrombocytosis	HP:0040281	ORPHA:3318
3717	JAK2	HP:0001899	Increased hematocrit	33/33	OMIM:133100
3717	JAK2	HP:0001899	Increased hematocrit	-	OMIM:263300
3717	JAK2	HP:0001898	Increased red blood cell mass	-	OMIM:133100
3717	JAK2	HP:0001898	Increased red blood cell mass	-	OMIM:263300
3717	JAK2	HP:0001872	Abnormality of thrombocytes	HP:0040281	ORPHA:3318
3717	JAK2	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040282	ORPHA:824
3717	JAK2	HP:0001873	Thrombocytopenia	0/31	OMIM:263300
3717	JAK2	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:824
3717	JAK2	HP:0001876	Pancytopenia	HP:0040283	ORPHA:824
3718	JAK3	HP:0033581	Absent peripheral lymph nodes in presence of infection	1/1	OMIM:600802
3718	JAK3	HP:0001287	Meningitis	-	OMIM:600802
3718	JAK3	HP:0010976	Decreased total B cell count	HP:0040283	ORPHA:35078
3718	JAK3	HP:0000007	Autosomal recessive inheritance	-	OMIM:600802
3718	JAK3	HP:0000143	Rectovaginal fistula	HP:0040284	ORPHA:35078
3718	JAK3	HP:0002783	Recurrent lower respiratory tract infections	4/4	OMIM:600802
3718	JAK3	HP:0002788	Recurrent upper respiratory tract infections	4/4	OMIM:600802
3718	JAK3	HP:0001433	Hepatosplenomegaly	HP:0040284	ORPHA:35078
3718	JAK3	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	4/4	OMIM:600802
3718	JAK3	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	HP:0040281	ORPHA:35078
3718	JAK3	HP:0002028	Chronic diarrhea	1/1	OMIM:600802
3718	JAK3	HP:0002028	Chronic diarrhea	HP:0040282	ORPHA:35078
3718	JAK3	HP:0002090	Pneumonia	1/1	OMIM:600802
3718	JAK3	HP:0004798	Recurrent infection of the gastrointestinal tract	HP:0040283	ORPHA:35078
3718	JAK3	HP:0011837	Partial IgA deficiency	HP:0040283	ORPHA:35078
3718	JAK3	HP:0003593	Infantile onset	21/24	OMIM:600802
3718	JAK3	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:35078
3718	JAK3	HP:0200039	Pustule	HP:0040283	ORPHA:35078
3718	JAK3	HP:0009098	Chronic oral candidiasis	HP:0040282	ORPHA:35078
3718	JAK3	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:35078
3718	JAK3	HP:0004315	Decreased circulating IgG concentration	HP:0040283	ORPHA:35078
3718	JAK3	HP:0004430	Severe combined immunodeficiency	-	OMIM:600802
3718	JAK3	HP:0004429	Recurrent viral infections	HP:0040283	ORPHA:35078
3718	JAK3	HP:0003139	Panhypogammaglobulinemia	2/2	OMIM:600802
3718	JAK3	HP:0040219	Absent natural killer cells	3/4	OMIM:600802
3718	JAK3	HP:0040219	Absent natural killer cells	HP:0040282	ORPHA:35078
3718	JAK3	HP:0000988	Skin rash	HP:0040284	ORPHA:35078
3718	JAK3	HP:0000953	Hyperpigmentation of the skin	HP:0040284	ORPHA:35078
3718	JAK3	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:35078
3718	JAK3	HP:0001508	Failure to thrive	1/1	OMIM:600802
3718	JAK3	HP:0002850	Decreased circulating total IgM	HP:0040283	ORPHA:35078
3718	JAK3	HP:0031381	Decreased mitogen-induced T-cell proliferation	HP:0040281	ORPHA:35078
3718	JAK3	HP:0031382	Decreased anti-CD3/28-induced T-cell proliferation	4/4	OMIM:600802
3718	JAK3	HP:0005214	Intestinal obstruction	-	OMIM:600802
3718	JAK3	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:35078
3718	JAK3	HP:0000371	Acute otitis media	HP:0040283	ORPHA:35078
3718	JAK3	HP:0002965	Cutaneous anergy	-	OMIM:600802
3718	JAK3	HP:0005372	Abnormality of B cell physiology	2/2	OMIM:600802
3718	JAK3	HP:0005354	Absent cellular immunity	HP:0040281	ORPHA:35078
3718	JAK3	HP:0000403	Recurrent otitis media	1/1	OMIM:600802
3718	JAK3	HP:0005403	Decreased total T cell count	4/4	OMIM:600802
3718	JAK3	HP:0005403	Decreased total T cell count	HP:0040281	ORPHA:35078
3718	JAK3	HP:0005390	Recurrent opportunistic infections	HP:0040282	ORPHA:35078
3718	JAK3	HP:0001888	Decreased total lymphocyte count	1/1	OMIM:600802
3718	JAK3	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:35078
3720	JARID2	HP:0009890	High anterior hairline	6/16	OMIM:620098
3720	JARID2	HP:0001288	Gait disturbance	1/16	OMIM:620098
3720	JARID2	HP:0001250	Seizure	3/16	OMIM:620098
3720	JARID2	HP:0001252	Hypotonia	5/16	OMIM:620098
3720	JARID2	HP:0001249	Intellectual disability	11/15	OMIM:620098
3720	JARID2	HP:0001263	Global developmental delay	16/16	OMIM:620098
3720	JARID2	HP:0002558	Supernumerary nipple	1/16	OMIM:620098
3720	JARID2	HP:0001212	Prominent fingertip pads	2/16	OMIM:620098
3720	JARID2	HP:0001382	Joint hypermobility	2/16	OMIM:620098
3720	JARID2	HP:0000006	Autosomal dominant inheritance	-	OMIM:620098
3720	JARID2	HP:0002650	Scoliosis	1/16	OMIM:620098
3720	JARID2	HP:0000175	Cleft palate	1/16	OMIM:620098
3720	JARID2	HP:0410030	Cleft lip	1/16	OMIM:620098
3720	JARID2	HP:0004691	2-3 toe syndactyly	1/16	OMIM:620098
3720	JARID2	HP:0002002	Deep philtrum	1/16	OMIM:620098
3720	JARID2	HP:0002007	Frontal bossing	2/16	OMIM:620098
3720	JARID2	HP:0011800	Midface retrusion	3/16	OMIM:620098
3720	JARID2	HP:0002263	Exaggerated cupid's bow	2/16	OMIM:620098
3720	JARID2	HP:0007018	Attention deficit hyperactivity disorder	1/16	OMIM:620098
3720	JARID2	HP:0000664	Synophrys	1/16	OMIM:620098
3720	JARID2	HP:0000718	Aggressive behavior	4/16	OMIM:620098
3720	JARID2	HP:0000729	Autistic behavior	9/16	OMIM:620098
3720	JARID2	HP:0000722	Compulsive behaviors	3/16	OMIM:620098
3720	JARID2	HP:0000709	Psychosis	1/16	OMIM:620098
3720	JARID2	HP:0009183	Joint contracture of the 5th finger	1/16	OMIM:620098
3720	JARID2	HP:0003186	Inverted nipples	1/16	OMIM:620098
3720	JARID2	HP:0045075	Sparse eyebrow	2/16	OMIM:620098
3720	JARID2	HP:0000954	Single transverse palmar crease	1/16	OMIM:620098
3720	JARID2	HP:0000956	Acanthosis nigricans	1/16	OMIM:620098
3720	JARID2	HP:0000286	Epicanthus	1/16	OMIM:620098
3720	JARID2	HP:0000278	Retrognathia	1/16	OMIM:620098
3720	JARID2	HP:0000256	Macrocephaly	2/12	OMIM:620098
3720	JARID2	HP:0000252	Microcephaly	1/12	OMIM:620098
3720	JARID2	HP:0000369	Low-set ears	1/16	OMIM:620098
3720	JARID2	HP:0000337	Broad forehead	4/16	OMIM:620098
3720	JARID2	HP:0000336	Prominent supraorbital ridges	3/16	OMIM:620098
3720	JARID2	HP:0000319	Smooth philtrum	1/16	OMIM:620098
3720	JARID2	HP:0000316	Hypertelorism	1/16	OMIM:620098
3720	JARID2	HP:0000322	Short philtrum	3/16	OMIM:620098
3720	JARID2	HP:0000325	Triangular face	2/16	OMIM:620098
3720	JARID2	HP:0000307	Pointed chin	2/32	OMIM:620098
3720	JARID2	HP:0005280	Depressed nasal bridge	4/16	OMIM:620098
3720	JARID2	HP:0012471	Thick vermilion border	5/16	OMIM:620098
3720	JARID2	HP:0000494	Downslanted palpebral fissures	2/16	OMIM:620098
3720	JARID2	HP:0000490	Deeply set eye	6/16	OMIM:620098
3720	JARID2	HP:0001763	Pes planus	2/16	OMIM:620098
3720	JARID2	HP:0000414	Bulbous nose	4/16	OMIM:620098
3720	JARID2	HP:0000411	Protruding ear	1/16	OMIM:620098
3720	JARID2	HP:0000431	Wide nasal bridge	1/16	OMIM:620098
3720	JARID2	HP:0000508	Ptosis	1/16	OMIM:620098
3720	JARID2	HP:0000582	Upslanted palpebral fissure	2/16	OMIM:620098
3720	JARID2	HP:0011220	Prominent forehead	1/16	OMIM:620098
3720	JARID2	HP:0000574	Thick eyebrow	1/16	OMIM:620098
3720	JARID2	HP:0000568	Microphthalmia	1/16	OMIM:620098
3728	JUP	HP:0010872	T-wave inversion	20/26	OMIM:601214
3728	JUP	HP:0010872	T-wave inversion	1/1	OMIM:611528
3728	JUP	HP:0001279	Syncope	15/26	OMIM:601214
3728	JUP	HP:0001279	Syncope	-	OMIM:611528
3728	JUP	HP:0001233	2-3 finger cutaneous syndactyly	HP:0040283	ORPHA:158687
3728	JUP	HP:0007447	Diffuse palmoplantar hyperkeratosis	1/1	OMIM:601214
3728	JUP	HP:0006097	3-4 finger osseus syndactyly	HP:0040283	ORPHA:158687
3728	JUP	HP:0031193	Abnormal morphology of right ventricular trabeculae	23/26	OMIM:601214
3728	JUP	HP:0000007	Autosomal recessive inheritance	-	OMIM:601214
3728	JUP	HP:0000006	Autosomal dominant inheritance	-	OMIM:611528
3728	JUP	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	HP:0040282	ORPHA:158687
3728	JUP	HP:0000175	Cleft palate	HP:0040283	ORPHA:158687
3728	JUP	HP:0031274	Hypovolemic shock	HP:0040282	ORPHA:158687
3728	JUP	HP:0011712	Complete right bundle branch block	-	OMIM:601214
3728	JUP	HP:0004756	Ventricular tachycardia	-	OMIM:611528
3728	JUP	HP:0004751	Paroxysmal ventricular tachycardia	-	OMIM:601214
3728	JUP	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040281	ORPHA:34217
3728	JUP	HP:0003577	Congenital onset	1/1	OMIM:601214
3728	JUP	HP:0003581	Adult onset	3/3	OMIM:611528
3728	JUP	HP:0002223	Absent eyebrow	HP:0040282	ORPHA:158687
3728	JUP	HP:0002224	Woolly hair	1/1	OMIM:601214
3728	JUP	HP:0002224	Woolly hair	HP:0040281	ORPHA:34217
3728	JUP	HP:0002224	Woolly hair	0/3	OMIM:611528
3728	JUP	HP:0002231	Sparse body hair	-	OMIM:601214
3728	JUP	HP:0002212	Curly hair	-	OMIM:601214
3728	JUP	HP:0002212	Curly hair	HP:0040282	ORPHA:34217
3728	JUP	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:34217
3728	JUP	HP:0010719	Abnormality of hair texture	HP:0040281	ORPHA:34217
3728	JUP	HP:0008404	Nail dystrophy	-	OMIM:601214
3728	JUP	HP:0010705	4-5 finger cutaneous syndactyly	HP:0040283	ORPHA:158687
3728	JUP	HP:0100792	Acantholysis	1/1	OMIM:601214
3728	JUP	HP:0100792	Acantholysis	HP:0040282	ORPHA:158687
3728	JUP	HP:0002298	Absent hair	HP:0040282	ORPHA:158687
3728	JUP	HP:0008392	Subungual hyperkeratosis	1/1	OMIM:601214
3728	JUP	HP:0001030	Fragile skin	HP:0040282	ORPHA:158687
3728	JUP	HP:0001030	Fragile skin	5/5	OMIM:601214
3728	JUP	HP:0002321	Vertigo	HP:0040281	ORPHA:34217
3728	JUP	HP:0025092	Epidermal acanthosis	1/1	OMIM:601214
3728	JUP	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:158687
3728	JUP	HP:0005597	Congenital alopecia totalis	HP:0040282	ORPHA:158687
3728	JUP	HP:0001962	Palpitations	2/26	OMIM:601214
3728	JUP	HP:0000695	Natal tooth	HP:0040282	ORPHA:158687
3728	JUP	HP:0004308	Ventricular arrhythmia	-	OMIM:601214
3728	JUP	HP:0004308	Ventricular arrhythmia	3/3	OMIM:611528
3728	JUP	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:158687
3728	JUP	HP:0045075	Sparse eyebrow	-	OMIM:601214
3728	JUP	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:34217
3728	JUP	HP:0000982	Palmoplantar keratoderma	28/28	OMIM:601214
3728	JUP	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:34217
3728	JUP	HP:0000982	Palmoplantar keratoderma	0/3	OMIM:611528
3728	JUP	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:34217
3728	JUP	HP:0000962	Hyperkeratosis	1/1	OMIM:601214
3728	JUP	HP:0008066	Abnormal blistering of the skin	1/1	OMIM:601214
3728	JUP	HP:0011675	Arrhythmia	0/5	OMIM:601214
3728	JUP	HP:0011675	Arrhythmia	HP:0040281	ORPHA:34217
3728	JUP	HP:0011663	Right ventricular cardiomyopathy	1/1	OMIM:601214
3728	JUP	HP:0011663	Right ventricular cardiomyopathy	3/3	OMIM:611528
3728	JUP	HP:0002878	Respiratory failure	HP:0040282	ORPHA:158687
3728	JUP	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:158687
3728	JUP	HP:0000204	Cleft upper lip	HP:0040282	ORPHA:34217
3728	JUP	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:158687
3728	JUP	HP:0011039	Abnormal helix morphology	HP:0040283	ORPHA:158687
3728	JUP	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:158687
3728	JUP	HP:0031538	Abnormal dermoepidermal junction morphology	HP:0040282	ORPHA:158687
3728	JUP	HP:0001699	Sudden death	-	OMIM:601214
3728	JUP	HP:0001645	Sudden cardiac death	-	OMIM:601214
3728	JUP	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:34217
3728	JUP	HP:0001644	Dilated cardiomyopathy	-	OMIM:601214
3728	JUP	HP:0001627	Abnormal heart morphology	0/5	OMIM:601214
3728	JUP	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:158687
3728	JUP	HP:0001640	Cardiomegaly	-	OMIM:601214
3728	JUP	HP:0001635	Congestive heart failure	-	OMIM:601214
3728	JUP	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:34217
3728	JUP	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:158687
3728	JUP	HP:0001638	Cardiomyopathy	HP:0040281	ORPHA:34217
3728	JUP	HP:0006682	Premature ventricular contraction	24/26	OMIM:601214
3728	JUP	HP:0006670	Impaired myocardial contractility	HP:0040283	ORPHA:158687
3728	JUP	HP:0006677	Prolonged QRS complex	19/26	OMIM:601214
3728	JUP	HP:0006677	Prolonged QRS complex	1/1	OMIM:611528
3728	JUP	HP:0001836	Camptodactyly of toe	HP:0040283	ORPHA:158687
3728	JUP	HP:0001806	Onycholysis	-	OMIM:601214
3728	JUP	HP:0001802	Absent toenail	HP:0040282	ORPHA:158687
3728	JUP	HP:0001817	Absent fingernail	HP:0040282	ORPHA:158687
3728	JUP	HP:0000561	Absent eyelashes	HP:0040282	ORPHA:158687
3730	ANOS1	HP:0003782	Eunuchoid habitus	-	OMIM:308700
3730	ANOS1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
3730	ANOS1	HP:0001250	Seizure	HP:0040283	ORPHA:478
3730	ANOS1	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
3730	ANOS1	HP:0001251	Ataxia	-	OMIM:308700
3730	ANOS1	HP:0001251	Ataxia	HP:0040283	ORPHA:478
3730	ANOS1	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
3730	ANOS1	HP:0008734	Decreased testicular size	1/1	OMIM:146110
3730	ANOS1	HP:0008734	Decreased testicular size	-	OMIM:308700
3730	ANOS1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
3730	ANOS1	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
3730	ANOS1	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
3730	ANOS1	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:308700
3730	ANOS1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
3730	ANOS1	HP:0000046	Small scrotum	1/2	OMIM:308700
3730	ANOS1	HP:0000054	Micropenis	1/1	OMIM:146110
3730	ANOS1	HP:0000054	Micropenis	2/2	OMIM:308700
3730	ANOS1	HP:0000054	Micropenis	HP:0040281	ORPHA:478
3730	ANOS1	HP:0000029	Testicular atrophy	-	OMIM:308700
3730	ANOS1	HP:0000028	Cryptorchidism	-	OMIM:146110
3730	ANOS1	HP:0000028	Cryptorchidism	-	OMIM:308700
3730	ANOS1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
3730	ANOS1	HP:0000027	Azoospermia	-	OMIM:308700
3730	ANOS1	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
3730	ANOS1	HP:0001341	Olfactory lobe agenesis	-	OMIM:308700
3730	ANOS1	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
3730	ANOS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
3730	ANOS1	HP:0001335	Bimanual synkinesia	-	OMIM:308700
3730	ANOS1	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
3730	ANOS1	HP:0001337	Tremor	HP:0040283	ORPHA:478
3730	ANOS1	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
3730	ANOS1	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
3730	ANOS1	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
3730	ANOS1	HP:0000122	Unilateral renal agenesis	-	OMIM:308700
3730	ANOS1	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
3730	ANOS1	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
3730	ANOS1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
3730	ANOS1	HP:0001419	X-linked recessive inheritance	-	OMIM:308700
3730	ANOS1	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
3730	ANOS1	HP:0003593	Infantile onset	1/2	OMIM:308700
3730	ANOS1	HP:0003577	Congenital onset	1/2	OMIM:308700
3730	ANOS1	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
3730	ANOS1	HP:0002225	Sparse pubic hair	-	OMIM:308700
3730	ANOS1	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
3730	ANOS1	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
3730	ANOS1	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
3730	ANOS1	HP:0003621	Juvenile onset	2/2	OMIM:146110
3730	ANOS1	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
3730	ANOS1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
3730	ANOS1	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
3730	ANOS1	HP:0000771	Gynecomastia	0/1	OMIM:146110
3730	ANOS1	HP:0000771	Gynecomastia	-	OMIM:308700
3730	ANOS1	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
3730	ANOS1	HP:0000789	Infertility	HP:0040283	OMIM:146110
3730	ANOS1	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
3730	ANOS1	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
3730	ANOS1	HP:0004409	Hyposmia	-	OMIM:308700
3730	ANOS1	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
3730	ANOS1	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
3730	ANOS1	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
3730	ANOS1	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	-	OMIM:308700
3730	ANOS1	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
3730	ANOS1	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
3730	ANOS1	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
3730	ANOS1	HP:0040171	Decreased serum testosterone concentration	2/2	OMIM:308700
3730	ANOS1	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
3730	ANOS1	HP:0000218	High palate	-	OMIM:308700
3730	ANOS1	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
3730	ANOS1	HP:0001513	Obesity	HP:0040283	ORPHA:478
3730	ANOS1	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
3730	ANOS1	HP:0002929	Leydig cell insensitivity to gonadotropin	-	OMIM:308700
3730	ANOS1	HP:0000324	Facial asymmetry	HP:0040283	OMIM:308700
3730	ANOS1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
3730	ANOS1	HP:0000458	Anosmia	-	OMIM:308700
3730	ANOS1	HP:0000458	Anosmia	HP:0040281	ORPHA:478
3730	ANOS1	HP:0001763	Pes planus	HP:0040283	ORPHA:478
3730	ANOS1	HP:0001761	Pes cavus	-	OMIM:308700
3730	ANOS1	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
3730	ANOS1	HP:0000508	Ptosis	HP:0040283	ORPHA:478
3730	ANOS1	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
3730	ANOS1	HP:0030344	Decreased circulating luteinizing hormone level	20/20	OMIM:308700
3730	ANOS1	HP:0030341	Decreased circulating follicle stimulating hormone concentration	20/20	OMIM:308700
3730	ANOS1	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
3735	KARS1	HP:0007256	Abnormal pyramidal sign	2/2	OMIM:619196
3735	KARS1	HP:0008568	Vestibular areflexia	HP:0040282	ORPHA:3240
3735	KARS1	HP:0002415	Leukodystrophy	1/1	OMIM:619196
3735	KARS1	HP:0001276	Hypertonia	1/7	OMIM:619147
3735	KARS1	HP:0001270	Motor delay	1/1	OMIM:619196
3735	KARS1	HP:0001268	Mental deterioration	1/1	OMIM:619196
3735	KARS1	HP:0002599	Head titubation	HP:0040282	ORPHA:3240
3735	KARS1	HP:0001284	Areflexia	-	OMIM:613641
3735	KARS1	HP:0001250	Seizure	HP:0040282	ORPHA:3240
3735	KARS1	HP:0001250	Seizure	7/7	OMIM:619147
3735	KARS1	HP:0001252	Hypotonia	6/8	OMIM:619147
3735	KARS1	HP:0001251	Ataxia	1/1	OMIM:619196
3735	KARS1	HP:0001265	Hyporeflexia	-	OMIM:613641
3735	KARS1	HP:0001263	Global developmental delay	2/2	OMIM:619147
3735	KARS1	HP:0001263	Global developmental delay	1/1	OMIM:613641
3735	KARS1	HP:0007346	Subcortical white matter calcifications	HP:0040282	ORPHA:3240
3735	KARS1	HP:0002514	Cerebral calcification	8/8	OMIM:619147
3735	KARS1	HP:0002510	Spastic tetraplegia	HP:0040282	ORPHA:3240
3735	KARS1	HP:0002510	Spastic tetraplegia	1/1	OMIM:619147
3735	KARS1	HP:0002506	Diffuse cerebral atrophy	HP:0040282	ORPHA:3240
3735	KARS1	HP:0003819	Death in childhood	2/7	OMIM:619147
3735	KARS1	HP:0000083	Renal insufficiency	2/7	OMIM:619147
3735	KARS1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:3240
3735	KARS1	HP:0001332	Dystonia	-	ORPHA:3240
3735	KARS1	HP:0001332	Dystonia	1/1	OMIM:619196
3735	KARS1	HP:0001344	Absent speech	6/7	OMIM:619147
3735	KARS1	HP:0001344	Absent speech	HP:0040282	ORPHA:3240
3735	KARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613916
3735	KARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619196
3735	KARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619147
3735	KARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613641
3735	KARS1	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:3240
3735	KARS1	HP:0000160	Narrow mouth	1/1	OMIM:619147
3735	KARS1	HP:0008972	Decreased activity of mitochondrial respiratory chain	1/1	OMIM:619147
3735	KARS1	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:3240
3735	KARS1	HP:0002750	Delayed skeletal maturation	1/1	OMIM:619147
3735	KARS1	HP:0003348	Hyperalaninemia	1/1	OMIM:619147
3735	KARS1	HP:0002014	Diarrhea	HP:0040283	ORPHA:3240
3735	KARS1	HP:0002013	Vomiting	1/1	OMIM:619147
3735	KARS1	HP:0002013	Vomiting	HP:0040283	ORPHA:3240
3735	KARS1	HP:0100543	Cognitive impairment	2/2	OMIM:619196
3735	KARS1	HP:0003376	Steppage gait	-	OMIM:613641
3735	KARS1	HP:0003477	Peripheral axonal neuropathy	1/1	OMIM:619196
3735	KARS1	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:619196
3735	KARS1	HP:0002151	Increased circulating lactate concentration	4/8	OMIM:619147
3735	KARS1	HP:0002171	Gliosis	HP:0040282	ORPHA:3240
3735	KARS1	HP:0009588	Vestibular schwannoma	1/1	OMIM:613641
3735	KARS1	HP:0003593	Infantile onset	13/13	OMIM:613916
3735	KARS1	HP:0003577	Congenital onset	7/7	OMIM:619147
3735	KARS1	HP:0100716	Self-injurious behavior	1/1	OMIM:613641
3735	KARS1	HP:0003542	Increased circulating pyruvate concentration	2/7	OMIM:619147
3735	KARS1	HP:0033383	Decreased compound muscle action potential amplitude	1/1	OMIM:613641
3735	KARS1	HP:0004840	Hypochromic microcytic anemia	HP:0040282	ORPHA:3240
3735	KARS1	HP:0004840	Hypochromic microcytic anemia	1/1	OMIM:619147
3735	KARS1	HP:0001047	Atopic dermatitis	HP:0040282	ORPHA:3240
3735	KARS1	HP:0002376	Developmental regression	HP:0040282	ORPHA:3240
3735	KARS1	HP:0002376	Developmental regression	5/5	OMIM:619147
3735	KARS1	HP:0002344	Progressive neurologic deterioration	1/1	OMIM:619196
3735	KARS1	HP:0002352	Leukoencephalopathy	1/1	OMIM:619147
3735	KARS1	HP:0008527	Congenital sensorineural hearing impairment	7/7	OMIM:619147
3735	KARS1	HP:0010818	Generalized tonic seizure	1/1	OMIM:619147
3735	KARS1	HP:0007103	Hypointensity of cerebral white matter on MRI	2/2	OMIM:619196
3735	KARS1	HP:0002304	Akinesia	1/1	OMIM:619147
3735	KARS1	HP:0000639	Nystagmus	6/6	OMIM:619147
3735	KARS1	HP:0001946	Ketosis	1/1	OMIM:619147
3735	KARS1	HP:0001903	Anemia	3/7	OMIM:619147
3735	KARS1	HP:0011344	Severe global developmental delay	7/7	OMIM:619147
3735	KARS1	HP:0009027	Foot dorsiflexor weakness	-	OMIM:613641
3735	KARS1	HP:0031936	Delayed ability to walk	7/7	OMIM:619147
3735	KARS1	HP:0012707	Elevated brain lactate level by MRS	1/1	OMIM:619196
3735	KARS1	HP:0011476	Profound sensorineural hearing impairment	2/2	OMIM:619196
3735	KARS1	HP:0004463	Absent brainstem auditory responses	HP:0040282	ORPHA:3240
3735	KARS1	HP:0000821	Hypothyroidism	1/1	OMIM:619147
3735	KARS1	HP:0040209	Decreased CSF biopterin level	1/1	OMIM:619147
3735	KARS1	HP:0003281	Increased circulating ferritin concentration	HP:0040282	ORPHA:3240
3735	KARS1	HP:0000252	Microcephaly	1/1	OMIM:619147
3735	KARS1	HP:0002878	Respiratory failure	HP:0040283	ORPHA:3240
3735	KARS1	HP:0001508	Failure to thrive	1/1	OMIM:619147
3735	KARS1	HP:0001518	Small for gestational age	1/1	OMIM:619147
3735	KARS1	HP:0001510	Growth delay	1/1	OMIM:619147
3735	KARS1	HP:0001510	Growth delay	HP:0040282	ORPHA:3240
3735	KARS1	HP:0002936	Distal sensory impairment	-	OMIM:613641
3735	KARS1	HP:0000365	Hearing impairment	1/1	OMIM:619196
3735	KARS1	HP:0000343	Long philtrum	1/1	OMIM:619147
3735	KARS1	HP:0011002	Osteopetrosis	-	ORPHA:3240
3735	KARS1	HP:0000407	Sensorineural hearing impairment	13/13	OMIM:613916
3735	KARS1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:619196
3735	KARS1	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:619147
3735	KARS1	HP:0001761	Pes cavus	-	OMIM:613641
3735	KARS1	HP:0001756	Vestibular hyporeflexia	0/13	OMIM:613916
3735	KARS1	HP:0000529	Progressive visual loss	1/1	OMIM:619196
3735	KARS1	HP:0012595	Mild proteinuria	1/1	OMIM:619147
3735	KARS1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:3240
3736	KCNA1	HP:0001188	Hand clenching	HP:0040283	ORPHA:37612
3736	KCNA1	HP:0001155	Abnormality of the hand	-	OMIM:160120
3736	KCNA1	HP:0002486	Myotonia	HP:0040283	ORPHA:37612
3736	KCNA1	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:1934
3736	KCNA1	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0002421	Poor head control	HP:0040282	ORPHA:1934
3736	KCNA1	HP:0002411	Myokymia	-	OMIM:160120
3736	KCNA1	HP:0002411	Myokymia	HP:0040281	ORPHA:37612
3736	KCNA1	HP:0001276	Hypertonia	HP:0040283	ORPHA:37612
3736	KCNA1	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:37612
3736	KCNA1	HP:0001270	Motor delay	HP:0040283	ORPHA:37612
3736	KCNA1	HP:0001254	Lethargy	HP:0040282	ORPHA:1934
3736	KCNA1	HP:0001250	Seizure	HP:0040280	ORPHA:1934
3736	KCNA1	HP:0001250	Seizure	HP:0040283	ORPHA:972
3736	KCNA1	HP:0001250	Seizure	HP:0040283	ORPHA:98809
3736	KCNA1	HP:0001251	Ataxia	HP:0040282	ORPHA:972
3736	KCNA1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1934
3736	KCNA1	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:37612
3736	KCNA1	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0001260	Dysarthria	HP:0040282	ORPHA:972
3736	KCNA1	HP:0001260	Dysarthria	-	OMIM:160120
3736	KCNA1	HP:0001260	Dysarthria	HP:0040282	ORPHA:37612
3736	KCNA1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1934
3736	KCNA1	HP:0001257	Spasticity	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:1934
3736	KCNA1	HP:0003828	Variable expressivity	-	OMIM:160120
3736	KCNA1	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0003803	Type 1 muscle fiber predominance	HP:0040281	ORPHA:972
3736	KCNA1	HP:0000070	Ureterocele	HP:0040284	ORPHA:1934
3736	KCNA1	HP:0000054	Micropenis	HP:0040284	ORPHA:1934
3736	KCNA1	HP:0001350	Slurred speech	-	OMIM:160120
3736	KCNA1	HP:0001350	Slurred speech	HP:0040282	ORPHA:972
3736	KCNA1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1934
3736	KCNA1	HP:0001347	Hyperreflexia	-	OMIM:160120
3736	KCNA1	HP:0001332	Dystonia	HP:0040284	ORPHA:1934
3736	KCNA1	HP:0001332	Dystonia	HP:0040281	ORPHA:98809
3736	KCNA1	HP:0001328	Specific learning disability	HP:0040283	ORPHA:37612
3736	KCNA1	HP:0001337	Tremor	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0001337	Tremor	-	OMIM:160120
3736	KCNA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:160120
3736	KCNA1	HP:0001336	Myoclonus	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0001302	Pachygyria	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0002650	Scoliosis	HP:0040283	ORPHA:37612
3736	KCNA1	HP:0000175	Cleft palate	HP:0040284	ORPHA:1934
3736	KCNA1	HP:0008981	Calf muscle hypertrophy	HP:0040283	ORPHA:37612
3736	KCNA1	HP:0008947	Floppy infant	HP:0040282	ORPHA:1934
3736	KCNA1	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:1934
3736	KCNA1	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:37612
3736	KCNA1	HP:0002018	Nausea	HP:0040282	ORPHA:37612
3736	KCNA1	HP:0002033	Poor suck	HP:0040282	ORPHA:1934
3736	KCNA1	HP:0002015	Dysphagia	HP:0040282	ORPHA:1934
3736	KCNA1	HP:0002098	Respiratory distress	HP:0040283	ORPHA:37612
3736	KCNA1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0003394	Muscle spasm	HP:0040282	ORPHA:37612
3736	KCNA1	HP:0002064	Spastic gait	-	OMIM:160120
3736	KCNA1	HP:0002064	Spastic gait	HP:0040281	ORPHA:972
3736	KCNA1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0002076	Migraine	HP:0040283	ORPHA:98809
3736	KCNA1	HP:0002072	Chorea	HP:0040281	ORPHA:98809
3736	KCNA1	HP:0003487	Babinski sign	-	OMIM:160120
3736	KCNA1	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:1934
3736	KCNA1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0002131	Episodic ataxia	-	OMIM:160120
3736	KCNA1	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0003457	EMG abnormality	HP:0040281	ORPHA:972
3736	KCNA1	HP:0002172	Postural instability	HP:0040281	ORPHA:37612
3736	KCNA1	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:37612
3736	KCNA1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1934
3736	KCNA1	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:1934
3736	KCNA1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1934
3736	KCNA1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:1934
3736	KCNA1	HP:0002376	Developmental regression	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0002370	Poor coordination	HP:0040281	ORPHA:37612
3736	KCNA1	HP:0002356	Writer's cramp	HP:0040283	ORPHA:98809
3736	KCNA1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1934
3736	KCNA1	HP:0002321	Vertigo	-	OMIM:160120
3736	KCNA1	HP:0002321	Vertigo	HP:0040282	ORPHA:37612
3736	KCNA1	HP:0002315	Headache	-	OMIM:160120
3736	KCNA1	HP:0002315	Headache	HP:0040282	ORPHA:37612
3736	KCNA1	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0100660	Dyskinesia	HP:0040281	ORPHA:98809
3736	KCNA1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0010819	Atonic seizure	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0002311	Incoordination	-	OMIM:160120
3736	KCNA1	HP:0002312	Clumsiness	HP:0040282	ORPHA:37612
3736	KCNA1	HP:0002305	Athetosis	HP:0040281	ORPHA:98809
3736	KCNA1	HP:0003621	Juvenile onset	-	OMIM:160120
3736	KCNA1	HP:0000651	Diplopia	HP:0040282	ORPHA:37612
3736	KCNA1	HP:0000622	Blurred vision	-	OMIM:160120
3736	KCNA1	HP:0000622	Blurred vision	HP:0040282	ORPHA:37612
3736	KCNA1	HP:0004305	Involuntary movements	HP:0040281	ORPHA:98809
3736	KCNA1	HP:0003011	Abnormality of the musculature	-	OMIM:160120
3736	KCNA1	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:972
3736	KCNA1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:37612
3736	KCNA1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0010174	Broad phalanx of the toes	HP:0040284	ORPHA:1934
3736	KCNA1	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:972
3736	KCNA1	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1934
3736	KCNA1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:972
3736	KCNA1	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:160120
3736	KCNA1	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:37612
3736	KCNA1	HP:0009381	Short finger	HP:0040284	ORPHA:1934
3736	KCNA1	HP:0000252	Microcephaly	HP:0040284	ORPHA:1934
3736	KCNA1	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1934
3736	KCNA1	HP:0001508	Failure to thrive	HP:0040284	ORPHA:1934
3736	KCNA1	HP:0001500	Broad finger	HP:0040284	ORPHA:1934
3736	KCNA1	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:37612
3736	KCNA1	HP:0000340	Sloping forehead	HP:0040284	ORPHA:1934
3736	KCNA1	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:1934
3736	KCNA1	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0011157	Focal sensory seizure	HP:0040282	ORPHA:98809
3736	KCNA1	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:1934
3736	KCNA1	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:1934
3736	KCNA1	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:1934
3736	KCNA1	HP:0000486	Strabismus	HP:0040284	ORPHA:1934
3736	KCNA1	HP:0012469	Infantile spasms	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1934
3736	KCNA1	HP:0012448	Delayed myelination	HP:0040283	ORPHA:1934
3736	KCNA1	HP:0005461	Craniofacial disproportion	HP:0040283	ORPHA:37612
3736	KCNA1	HP:0012554	Absent thumbnail	HP:0040284	ORPHA:1934
3737	KCNA2	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
3737	KCNA2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
3737	KCNA2	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0001250	Seizure	HP:0040282	ORPHA:442835
3737	KCNA2	HP:0001250	Seizure	1/1	OMIM:616366
3737	KCNA2	HP:0001252	Hypotonia	1/1	OMIM:616366
3737	KCNA2	HP:0001251	Ataxia	1/1	OMIM:616366
3737	KCNA2	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
3737	KCNA2	HP:0001249	Intellectual disability	-	OMIM:616366
3737	KCNA2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
3737	KCNA2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
3737	KCNA2	HP:0001263	Global developmental delay	1/1	OMIM:616366
3737	KCNA2	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
3737	KCNA2	HP:0001344	Absent speech	-	OMIM:616366
3737	KCNA2	HP:0001337	Tremor	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0001337	Tremor	-	OMIM:616366
3737	KCNA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616366
3737	KCNA2	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0001336	Myoclonus	-	OMIM:616366
3737	KCNA2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
3737	KCNA2	HP:0003593	Infantile onset	-	OMIM:616366
3737	KCNA2	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0200134	Epileptic encephalopathy	1/1	OMIM:616366
3737	KCNA2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
3737	KCNA2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/1	OMIM:616366
3737	KCNA2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	1/1	OMIM:616366
3737	KCNA2	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
3737	KCNA2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
3737	KCNA2	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0004322	Short stature	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
3737	KCNA2	HP:0000717	Autism	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0011463	Childhood onset	1/1	OMIM:616366
3737	KCNA2	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
3737	KCNA2	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
3737	KCNA2	HP:0000348	High forehead	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0032794	Myoclonic seizure	1/1	OMIM:616366
3737	KCNA2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
3737	KCNA2	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
3737	KCNA2	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
3737	KCNA2	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
3739	KCNA4	HP:0001276	Hypertonia	-	OMIM:618284
3739	KCNA4	HP:0001249	Intellectual disability	4/4	OMIM:618284
3739	KCNA4	HP:0001260	Dysarthria	4/4	OMIM:618284
3739	KCNA4	HP:0001332	Dystonia	4/4	OMIM:618284
3739	KCNA4	HP:0000007	Autosomal recessive inheritance	-	OMIM:618284
3739	KCNA4	HP:0002064	Spastic gait	4/4	OMIM:618284
3739	KCNA4	HP:0003487	Babinski sign	4/4	OMIM:618284
3739	KCNA4	HP:0002194	Delayed gross motor development	4/4	OMIM:618284
3739	KCNA4	HP:0003577	Congenital onset	4/4	OMIM:618284
3739	KCNA4	HP:0007018	Attention deficit hyperactivity disorder	4/4	OMIM:618284
3739	KCNA4	HP:0002396	Cogwheel rigidity	4/4	OMIM:618284
3739	KCNA4	HP:0004325	Decreased body weight	4/4	OMIM:618284
3739	KCNA4	HP:0004322	Short stature	4/4	OMIM:618284
3739	KCNA4	HP:0000750	Delayed speech and language development	3/4	OMIM:618284
3739	KCNA4	HP:0000252	Microcephaly	4/4	OMIM:618284
3739	KCNA4	HP:0001510	Growth delay	4/4	OMIM:618284
3739	KCNA4	HP:0000519	Developmental cataract	4/4	OMIM:618284
3739	KCNA4	HP:0000501	Glaucoma	1/4	OMIM:618284
3741	KCNA5	HP:0001279	Syncope	HP:0040282	ORPHA:334
3741	KCNA5	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
3741	KCNA5	HP:0000006	Autosomal dominant inheritance	-	OMIM:612240
3741	KCNA5	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
3741	KCNA5	HP:0004757	Paroxysmal atrial fibrillation	12/22	OMIM:612240
3741	KCNA5	HP:0004754	Permanent atrial fibrillation	9/19	OMIM:612240
3741	KCNA5	HP:0003596	Middle age onset	2/3	OMIM:612240
3741	KCNA5	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
3741	KCNA5	HP:0100749	Chest pain	HP:0040282	ORPHA:334
3741	KCNA5	HP:0002321	Vertigo	HP:0040282	ORPHA:334
3741	KCNA5	HP:0001962	Palpitations	29/31	OMIM:612240
3741	KCNA5	HP:0001962	Palpitations	HP:0040282	ORPHA:334
3741	KCNA5	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
3741	KCNA5	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
3741	KCNA5	HP:0012248	Prolonged PR interval	1/2	OMIM:612240
3741	KCNA5	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
3741	KCNA5	HP:0012378	Fatigue	HP:0040282	ORPHA:334
3741	KCNA5	HP:0005184	Prolonged QTc interval	1/2	OMIM:612240
3741	KCNA5	HP:0001688	Sinus bradycardia	3/21	OMIM:612240
3741	KCNA5	HP:0001664	Torsade de pointes	1/46	OMIM:115000
3741	KCNA5	HP:0001645	Sudden cardiac death	-	OMIM:115000
3741	KCNA5	HP:0001663	Ventricular fibrillation	-	OMIM:115000
3741	KCNA5	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
3741	KCNA5	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
3741	KCNA5	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
3741	KCNA5	HP:0006699	Premature atrial contractions	16/20	OMIM:612240
3741	KCNA5	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
3741	KCNA5	HP:0025710	Late young adult onset	1/3	OMIM:612240
3741	KCNA5	HP:0025708	Early young adult onset	2/2	OMIM:612240
3745	KCNB1	HP:0007270	Atypical absence seizure	1/3	OMIM:616056
3745	KCNB1	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
3745	KCNB1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
3745	KCNB1	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0001250	Seizure	HP:0040282	ORPHA:442835
3745	KCNB1	HP:0001252	Hypotonia	2/3	OMIM:616056
3745	KCNB1	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
3745	KCNB1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
3745	KCNB1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
3745	KCNB1	HP:0001263	Global developmental delay	3/3	OMIM:616056
3745	KCNB1	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/3	OMIM:616056
3745	KCNB1	HP:0002521	Hypsarrhythmia	1/3	OMIM:616056
3745	KCNB1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
3745	KCNB1	HP:0001344	Absent speech	1/3	OMIM:616056
3745	KCNB1	HP:0001337	Tremor	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616056
3745	KCNB1	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0012171	Stereotypical hand wringing	1/3	OMIM:616056
3745	KCNB1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0002069	Bilateral tonic-clonic seizure	3/3	OMIM:616056
3745	KCNB1	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
3745	KCNB1	HP:0003593	Infantile onset	1/3	OMIM:616056
3745	KCNB1	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0200134	Epileptic encephalopathy	-	OMIM:616056
3745	KCNB1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0002384	Focal impaired awareness seizure	1/3	OMIM:616056
3745	KCNB1	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
3745	KCNB1	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
3745	KCNB1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0010819	Atonic seizure	3/3	OMIM:616056
3745	KCNB1	HP:0003623	Neonatal onset	1/3	OMIM:616056
3745	KCNB1	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
3745	KCNB1	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0004322	Short stature	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
3745	KCNB1	HP:0000717	Autism	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0011463	Childhood onset	1/3	OMIM:616056
3745	KCNB1	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
3745	KCNB1	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
3745	KCNB1	HP:0000348	High forehead	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0012469	Infantile spasms	2/3	OMIM:616056
3745	KCNB1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
3745	KCNB1	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
3745	KCNB1	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
3745	KCNB1	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
3746	KCNC1	HP:0001272	Cerebellar atrophy	HP:0040283	OMIM:616187
3746	KCNC1	HP:0001268	Mental deterioration	9/15	OMIM:616187
3746	KCNC1	HP:0001251	Ataxia	1/16	OMIM:616187
3746	KCNC1	HP:0001337	Tremor	-	OMIM:616187
3746	KCNC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616187
3746	KCNC1	HP:0001336	Myoclonus	16/16	OMIM:616187
3746	KCNC1	HP:0002069	Bilateral tonic-clonic seizure	15/15	OMIM:616187
3746	KCNC1	HP:0003676	Progressive	-	OMIM:616187
3746	KCNC1	HP:0003621	Juvenile onset	14/15	OMIM:616187
3746	KCNC1	HP:0011463	Childhood onset	1/15	OMIM:616187
3746	KCNC1	HP:0032794	Myoclonic seizure	14/15	OMIM:616187
3746	KCNC1	HP:0011198	EEG with generalized epileptiform discharges	16/16	OMIM:616187
3747	KCNC2	HP:0010864	Intellectual disability, severe	1/1	OMIM:619913
3747	KCNC2	HP:0010851	EEG with burst suppression	1/1	OMIM:619913
3747	KCNC2	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0002421	Poor head control	1/1	OMIM:619913
3747	KCNC2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
3747	KCNC2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
3747	KCNC2	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0001250	Seizure	HP:0040282	ORPHA:442835
3747	KCNC2	HP:0001252	Hypotonia	2/9	OMIM:619913
3747	KCNC2	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0001251	Ataxia	2/8	OMIM:619913
3747	KCNC2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
3747	KCNC2	HP:0001249	Intellectual disability	8/8	OMIM:619913
3747	KCNC2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
3747	KCNC2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
3747	KCNC2	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0002521	Hypsarrhythmia	1/8	OMIM:619913
3747	KCNC2	HP:0002510	Spastic tetraplegia	1/1	OMIM:619913
3747	KCNC2	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
3747	KCNC2	HP:0001344	Absent speech	1/1	OMIM:619913
3747	KCNC2	HP:0001337	Tremor	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619913
3747	KCNC2	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0002069	Bilateral tonic-clonic seizure	4/8	OMIM:619913
3747	KCNC2	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0002121	Generalized non-motor (absence) seizure	4/8	OMIM:619913
3747	KCNC2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
3747	KCNC2	HP:0002188	Delayed CNS myelination	1/1	OMIM:619913
3747	KCNC2	HP:0002179	Opisthotonus	1/1	OMIM:619913
3747	KCNC2	HP:0003593	Infantile onset	8/8	OMIM:619913
3747	KCNC2	HP:0100702	Arachnoid cyst	1/8	OMIM:619913
3747	KCNC2	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0200134	Epileptic encephalopathy	1/1	OMIM:619913
3747	KCNC2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0011968	Feeding difficulties	1/1	OMIM:619913
3747	KCNC2	HP:0002384	Focal impaired awareness seizure	3/8	OMIM:619913
3747	KCNC2	HP:0002381	Aphasia	1/8	OMIM:619913
3747	KCNC2	HP:0002392	EEG with polyspike wave complexes	3/8	OMIM:619913
3747	KCNC2	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
3747	KCNC2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
3747	KCNC2	HP:0025097	Eyelid myoclonus	1/1	OMIM:619913
3747	KCNC2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0010819	Atonic seizure	1/8	OMIM:619913
3747	KCNC2	HP:0003623	Neonatal onset	2/2	OMIM:619913
3747	KCNC2	HP:0002307	Drooling	1/1	OMIM:619913
3747	KCNC2	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
3747	KCNC2	HP:0011344	Severe global developmental delay	1/1	OMIM:619913
3747	KCNC2	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0004322	Short stature	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0000752	Hyperactivity	1/8	OMIM:619913
3747	KCNC2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
3747	KCNC2	HP:0000717	Autism	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0000729	Autistic behavior	2/8	OMIM:619913
3747	KCNC2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
3747	KCNC2	HP:0000256	Macrocephaly	1/8	OMIM:619913
3747	KCNC2	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0032670	Tonic status epilepticus	1/1	OMIM:619913
3747	KCNC2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0000211	Trismus	1/1	OMIM:619913
3747	KCNC2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
3747	KCNC2	HP:0011097	Epileptic spasm	2/2	OMIM:619913
3747	KCNC2	HP:0032792	Tonic seizure	1/1	OMIM:619913
3747	KCNC2	HP:0000348	High forehead	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0032794	Myoclonic seizure	7/8	OMIM:619913
3747	KCNC2	HP:0031491	Continuous spike and waves during slow sleep	2/8	OMIM:619913
3747	KCNC2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
3747	KCNC2	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
3747	KCNC2	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
3747	KCNC2	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
3748	KCNC3	HP:0007256	Abnormal pyramidal sign	-	OMIM:605259
3748	KCNC3	HP:0002406	Limb dysmetria	-	OMIM:605259
3748	KCNC3	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:98768
3748	KCNC3	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:98768
3748	KCNC3	HP:0001272	Cerebellar atrophy	4/4	OMIM:605259
3748	KCNC3	HP:0001270	Motor delay	HP:0040282	ORPHA:98768
3748	KCNC3	HP:0001270	Motor delay	-	OMIM:605259
3748	KCNC3	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98768
3748	KCNC3	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:98768
3748	KCNC3	HP:0001250	Seizure	HP:0040284	ORPHA:98768
3748	KCNC3	HP:0001252	Hypotonia	-	OMIM:605259
3748	KCNC3	HP:0001249	Intellectual disability	-	OMIM:605259
3748	KCNC3	HP:0001260	Dysarthria	HP:0040282	ORPHA:98768
3748	KCNC3	HP:0001260	Dysarthria	10/12	OMIM:605259
3748	KCNC3	HP:0001263	Global developmental delay	HP:0040282	ORPHA:98768
3748	KCNC3	HP:0001257	Spasticity	1/12	OMIM:605259
3748	KCNC3	HP:0025331	Upgaze palsy	HP:0040284	ORPHA:98768
3748	KCNC3	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:98768
3748	KCNC3	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:98768
3748	KCNC3	HP:0001347	Hyperreflexia	5/12	OMIM:605259
3748	KCNC3	HP:0000012	Urinary urgency	HP:0040283	ORPHA:98768
3748	KCNC3	HP:0000006	Autosomal dominant inheritance	-	OMIM:605259
3748	KCNC3	HP:0001336	Myoclonus	HP:0040283	ORPHA:98768
3748	KCNC3	HP:0001336	Myoclonus	2/12	OMIM:605259
3748	KCNC3	HP:0002015	Dysphagia	HP:0040283	ORPHA:98768
3748	KCNC3	HP:0100543	Cognitive impairment	14/21	OMIM:605259
3748	KCNC3	HP:0002067	Bradykinesia	HP:0040284	ORPHA:98768
3748	KCNC3	HP:0002066	Gait ataxia	HP:0040282	ORPHA:98768
3748	KCNC3	HP:0002066	Gait ataxia	12/12	OMIM:605259
3748	KCNC3	HP:0002062	Abnormal pyramidal tract morphology	-	OMIM:605259
3748	KCNC3	HP:0002073	Progressive cerebellar ataxia	-	OMIM:605259
3748	KCNC3	HP:0002070	Limb ataxia	12/12	OMIM:605259
3748	KCNC3	HP:0002070	Limb ataxia	HP:0040282	ORPHA:98768
3748	KCNC3	HP:0002172	Postural instability	HP:0040283	ORPHA:98768
3748	KCNC3	HP:0003596	Middle age onset	-	OMIM:605259
3748	KCNC3	HP:0003677	Slowly progressive	-	OMIM:605259
3748	KCNC3	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:98768
3748	KCNC3	HP:0002312	Clumsiness	HP:0040283	ORPHA:98768
3748	KCNC3	HP:0006801	Hyperactive deep tendon reflexes	HP:0040283	ORPHA:98768
3748	KCNC3	HP:0006886	Impaired distal vibration sensation	HP:0040282	ORPHA:98768
3748	KCNC3	HP:0006886	Impaired distal vibration sensation	6/12	OMIM:605259
3748	KCNC3	HP:0000639	Nystagmus	HP:0040282	ORPHA:98768
3748	KCNC3	HP:0000639	Nystagmus	0/21	OMIM:605259
3748	KCNC3	HP:0000648	Optic atrophy	HP:0040283	ORPHA:98768
3748	KCNC3	HP:0000648	Optic atrophy	-	OMIM:605259
3748	KCNC3	HP:0009046	Difficulty running	HP:0040282	ORPHA:98768
3748	KCNC3	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:98768
3748	KCNC3	HP:0004322	Short stature	HP:0040284	ORPHA:98768
3748	KCNC3	HP:0011462	Young adult onset	-	OMIM:605259
3748	KCNC3	HP:0008003	Jerky ocular pursuit movements	-	OMIM:605259
3748	KCNC3	HP:0008003	Jerky ocular pursuit movements	HP:0040283	ORPHA:98768
3748	KCNC3	HP:0030187	Titubation	HP:0040282	ORPHA:98768
3748	KCNC3	HP:0000365	Hearing impairment	HP:0040283	ORPHA:98768
3748	KCNC3	HP:0000365	Hearing impairment	HP:0040283	OMIM:605259
3748	KCNC3	HP:0000473	Torticollis	HP:0040283	ORPHA:98768
3748	KCNC3	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:98768
3752	KCND3	HP:0001152	Saccadic smooth pursuit	12/21	OMIM:607346
3752	KCND3	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:98772
3752	KCND3	HP:0001272	Cerebellar atrophy	10/10	OMIM:607346
3752	KCND3	HP:0001288	Gait disturbance	HP:0040281	ORPHA:98772
3752	KCND3	HP:0001279	Syncope	HP:0040282	ORPHA:130
3752	KCND3	HP:0001251	Ataxia	HP:0040281	ORPHA:98772
3752	KCND3	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:98772
3752	KCND3	HP:0001265	Hyporeflexia	6/12	OMIM:607346
3752	KCND3	HP:0001260	Dysarthria	HP:0040283	ORPHA:98772
3752	KCND3	HP:0001260	Dysarthria	15/18	OMIM:607346
3752	KCND3	HP:0000020	Urinary incontinence	HP:0040282	ORPHA:98772
3752	KCND3	HP:0001350	Slurred speech	HP:0040283	ORPHA:98772
3752	KCND3	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:98772
3752	KCND3	HP:0001347	Hyperreflexia	5/12	OMIM:607346
3752	KCND3	HP:0000006	Autosomal dominant inheritance	-	OMIM:616399
3752	KCND3	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
3752	KCND3	HP:0000006	Autosomal dominant inheritance	-	OMIM:607346
3752	KCND3	HP:0001336	Myoclonus	-	OMIM:607346
3752	KCND3	HP:0002015	Dysphagia	7/16	OMIM:607346
3752	KCND3	HP:0100543	Cognitive impairment	HP:0040283	OMIM:607346
3752	KCND3	HP:0002066	Gait ataxia	16/16	OMIM:607346
3752	KCND3	HP:0002078	Truncal ataxia	HP:0040282	ORPHA:98772
3752	KCND3	HP:0002078	Truncal ataxia	-	OMIM:607346
3752	KCND3	HP:0002073	Progressive cerebellar ataxia	-	OMIM:607346
3752	KCND3	HP:0002070	Limb ataxia	HP:0040282	ORPHA:98772
3752	KCND3	HP:0002070	Limb ataxia	-	OMIM:607346
3752	KCND3	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
3752	KCND3	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
3752	KCND3	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
3752	KCND3	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
3752	KCND3	HP:0002136	Broad-based gait	HP:0040283	ORPHA:98772
3752	KCND3	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
3752	KCND3	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
3752	KCND3	HP:0002174	Postural tremor	-	OMIM:607346
3752	KCND3	HP:0002172	Postural instability	HP:0040282	ORPHA:98772
3752	KCND3	HP:0003596	Middle age onset	6/21	OMIM:607346
3752	KCND3	HP:0003596	Middle age onset	1/2	OMIM:616399
3752	KCND3	HP:0003584	Late onset	4/21	OMIM:607346
3752	KCND3	HP:0002396	Cogwheel rigidity	HP:0040283	ORPHA:98772
3752	KCND3	HP:0002396	Cogwheel rigidity	HP:0040283	OMIM:607346
3752	KCND3	HP:0002370	Poor coordination	HP:0040283	ORPHA:98772
3752	KCND3	HP:0003677	Slowly progressive	-	OMIM:607346
3752	KCND3	HP:0003621	Juvenile onset	1/21	OMIM:607346
3752	KCND3	HP:0000639	Nystagmus	HP:0040283	ORPHA:98772
3752	KCND3	HP:0000639	Nystagmus	10/19	OMIM:607346
3752	KCND3	HP:0001962	Palpitations	2/2	OMIM:616399
3752	KCND3	HP:0000651	Diplopia	HP:0040283	ORPHA:98772
3752	KCND3	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:98772
3752	KCND3	HP:0031972	Presyncope	1/2	OMIM:616399
3752	KCND3	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
3752	KCND3	HP:0006938	Impaired vibration sensation at ankles	HP:0040282	ORPHA:98772
3752	KCND3	HP:0011462	Young adult onset	1/2	OMIM:616399
3752	KCND3	HP:0011462	Young adult onset	10/21	OMIM:607346
3752	KCND3	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
3752	KCND3	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
3752	KCND3	HP:0012251	ST segment elevation	2/2	OMIM:616399
3752	KCND3	HP:0007772	Impaired smooth pursuit	HP:0040283	ORPHA:98772
3752	KCND3	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
3752	KCND3	HP:0001664	Torsade de pointes	1/46	OMIM:115000
3752	KCND3	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
3752	KCND3	HP:0001645	Sudden cardiac death	-	OMIM:115000
3752	KCND3	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
3752	KCND3	HP:0001663	Ventricular fibrillation	-	OMIM:115000
3752	KCND3	HP:0001657	Prolonged QT interval	1/2	OMIM:616399
3752	KCND3	HP:0007944	Intermittent microsaccadic pursuits	-	OMIM:607346
3752	KCND3	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
3752	KCND3	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
3752	KCND3	HP:0007979	Gaze-evoked horizontal nystagmus	-	OMIM:607346
3753	KCNE1	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040281	ORPHA:90647
3753	KCNE1	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
3753	KCNE1	HP:0001279	Syncope	-	OMIM:613695
3753	KCNE1	HP:0001279	Syncope	HP:0040282	ORPHA:334
3753	KCNE1	HP:0001279	Syncope	HP:0040282	ORPHA:101016
3753	KCNE1	HP:0001279	Syncope	HP:0040282	ORPHA:90647
3753	KCNE1	HP:0001279	Syncope	1/1	OMIM:612347
3753	KCNE1	HP:0001250	Seizure	HP:0040283	ORPHA:101016
3753	KCNE1	HP:0001250	Seizure	HP:0040283	ORPHA:90647
3753	KCNE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612347
3753	KCNE1	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
3753	KCNE1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613695
3753	KCNE1	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
3753	KCNE1	HP:0030973	Postexertional symptom exacerbation	HP:0040282	ORPHA:90647
3753	KCNE1	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
3753	KCNE1	HP:0003577	Congenital onset	1/1	OMIM:612347
3753	KCNE1	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
3753	KCNE1	HP:0100749	Chest pain	HP:0040282	ORPHA:334
3753	KCNE1	HP:0002321	Vertigo	HP:0040282	ORPHA:334
3753	KCNE1	HP:0008527	Congenital sensorineural hearing impairment	1/1	OMIM:612347
3753	KCNE1	HP:0007185	Loss of consciousness	HP:0040282	ORPHA:90647
3753	KCNE1	HP:0001962	Palpitations	HP:0040282	ORPHA:334
3753	KCNE1	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
3753	KCNE1	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
3753	KCNE1	HP:0011476	Profound sensorineural hearing impairment	HP:0040281	ORPHA:90647
3753	KCNE1	HP:0011675	Arrhythmia	HP:0040282	ORPHA:90647
3753	KCNE1	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
3753	KCNE1	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
3753	KCNE1	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
3753	KCNE1	HP:0012378	Fatigue	HP:0040282	ORPHA:334
3753	KCNE1	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
3753	KCNE1	HP:0005184	Prolonged QTc interval	6/7	OMIM:613695
3753	KCNE1	HP:0005184	Prolonged QTc interval	HP:0040281	ORPHA:90647
3753	KCNE1	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
3753	KCNE1	HP:0000365	Hearing impairment	-	ORPHA:101016
3753	KCNE1	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
3753	KCNE1	HP:0001688	Sinus bradycardia	2/2	OMIM:613695
3753	KCNE1	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
3753	KCNE1	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
3753	KCNE1	HP:0001664	Torsade de pointes	1/46	OMIM:115000
3753	KCNE1	HP:0001664	Torsade de pointes	-	OMIM:613695
3753	KCNE1	HP:0001664	Torsade de pointes	HP:0040282	ORPHA:90647
3753	KCNE1	HP:0001664	Torsade de pointes	-	OMIM:612347
3753	KCNE1	HP:0001645	Sudden cardiac death	-	OMIM:613695
3753	KCNE1	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
3753	KCNE1	HP:0001645	Sudden cardiac death	-	OMIM:115000
3753	KCNE1	HP:0001645	Sudden cardiac death	-	OMIM:612347
3753	KCNE1	HP:0001663	Ventricular fibrillation	1/2	OMIM:613695
3753	KCNE1	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:90647
3753	KCNE1	HP:0001663	Ventricular fibrillation	-	OMIM:115000
3753	KCNE1	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
3753	KCNE1	HP:0001657	Prolonged QT interval	1/1	OMIM:612347
3753	KCNE1	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
3753	KCNE1	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
3753	KCNE1	HP:0006682	Premature ventricular contraction	1/1	OMIM:612347
3753	KCNE1	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
3753	KCNE1	HP:0025708	Early young adult onset	2/2	OMIM:613695
3753	KCNE1	HP:0001891	Iron deficiency anemia	HP:0040283	ORPHA:90647
3756	KCNH1	HP:0001187	Hyperextensibility of the finger joints	-	OMIM:135500
3756	KCNH1	HP:0001181	Adducted thumb	6/6	OMIM:611816
3756	KCNH1	HP:0009928	Thick nasal alae	1/6	OMIM:611816
3756	KCNH1	HP:0009928	Thick nasal alae	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0009890	High anterior hairline	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0009894	Thickened ears	HP:0040282	ORPHA:3473
3756	KCNH1	HP:0010864	Intellectual disability, severe	5/5	OMIM:611816
3756	KCNH1	HP:0010864	Intellectual disability, severe	6/6	OMIM:135500
3756	KCNH1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0009882	Short distal phalanx of finger	3/5	OMIM:135500
3756	KCNH1	HP:0009882	Short distal phalanx of finger	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0009882	Short distal phalanx of finger	5/6	OMIM:611816
3756	KCNH1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0001250	Seizure	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0001250	Seizure	6/6	OMIM:135500
3756	KCNH1	HP:0001250	Seizure	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0001250	Seizure	6/6	OMIM:611816
3756	KCNH1	HP:0001252	Hypotonia	14/16	OMIM:135500
3756	KCNH1	HP:0001252	Hypotonia	6/6	OMIM:611816
3756	KCNH1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:3473
3756	KCNH1	HP:0001263	Global developmental delay	-	OMIM:611816
3756	KCNH1	HP:0007440	Generalized hyperpigmentation	HP:0040284	ORPHA:3473
3756	KCNH1	HP:0100874	Thick hair	2/6	OMIM:135500
3756	KCNH1	HP:0006016	Delayed phalangeal epiphyseal ossification	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0002553	Highly arched eyebrow	2/6	OMIM:135500
3756	KCNH1	HP:0000040	Long penis	-	OMIM:135500
3756	KCNH1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:3473
3756	KCNH1	HP:0006191	Deep palmar crease	HP:0040284	ORPHA:3473
3756	KCNH1	HP:0001344	Absent speech	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:135500
3756	KCNH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:611816
3756	KCNH1	HP:0002650	Scoliosis	4/6	OMIM:135500
3756	KCNH1	HP:0002616	Aortic root aneurysm	-	OMIM:135500
3756	KCNH1	HP:0000194	Open mouth	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0000158	Macroglossia	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0000175	Cleft palate	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0000169	Gingival fibromatosis	-	OMIM:135500
3756	KCNH1	HP:0000169	Gingival fibromatosis	HP:0040280	ORPHA:3473
3756	KCNH1	HP:0000154	Wide mouth	HP:0040282	ORPHA:3473
3756	KCNH1	HP:0000154	Wide mouth	6/6	OMIM:611816
3756	KCNH1	HP:0000154	Wide mouth	1/6	OMIM:135500
3756	KCNH1	HP:0000154	Wide mouth	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0008947	Floppy infant	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0002714	Downturned corners of mouth	6/6	OMIM:611816
3756	KCNH1	HP:0002714	Downturned corners of mouth	1/6	OMIM:135500
3756	KCNH1	HP:0002020	Gastroesophageal reflux	1/5	OMIM:611816
3756	KCNH1	HP:0002020	Gastroesophageal reflux	2/6	OMIM:135500
3756	KCNH1	HP:0002019	Constipation	2/5	OMIM:611816
3756	KCNH1	HP:0002019	Constipation	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0002000	Short columella	5/6	OMIM:611816
3756	KCNH1	HP:0002058	Myopathic facies	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0002058	Myopathic facies	6/6	OMIM:611816
3756	KCNH1	HP:0009623	Proximal placement of thumb	6/6	OMIM:611816
3756	KCNH1	HP:0002265	Large fleshy ears	HP:0040282	ORPHA:3473
3756	KCNH1	HP:0003593	Infantile onset	-	OMIM:611816
3756	KCNH1	HP:0002240	Hepatomegaly	-	OMIM:135500
3756	KCNH1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0002219	Facial hypertrichosis	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0009693	Pseudoepiphysis of the thumb	4/6	OMIM:611816
3756	KCNH1	HP:0009660	Short phalanx of the thumb	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0010624	Aplastic/hypoplastic toenail	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0009648	Triangular shaped distal phalanx of the thumb	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0001007	Hirsutism	3/6	OMIM:135500
3756	KCNH1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0010804	Tented upper lip vermilion	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0010803	Everted upper lip vermilion	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0006887	Intellectual disability, progressive	HP:0040283	OMIM:135500
3756	KCNH1	HP:0010055	Broad hallux	-	OMIM:611816
3756	KCNH1	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0000684	Delayed eruption of teeth	-	OMIM:135500
3756	KCNH1	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0000657	Oculomotor apraxia	1/6	OMIM:135500
3756	KCNH1	HP:0011304	Broad thumb	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0011304	Broad thumb	5/6	OMIM:611816
3756	KCNH1	HP:0000668	Hypodontia	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0000664	Synophrys	-	OMIM:135500
3756	KCNH1	HP:0000666	Horizontal nystagmus	1/6	OMIM:135500
3756	KCNH1	HP:0004322	Short stature	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0009102	Anterior open-bite malocclusion	HP:0040282	ORPHA:3473
3756	KCNH1	HP:0000787	Nephrolithiasis	HP:0040283	OMIM:135500
3756	KCNH1	HP:0004425	Flat forehead	1/6	OMIM:611816
3756	KCNH1	HP:0000811	Abnormal external genitalia morphology	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0004554	Generalized hypertrichosis	HP:0040282	ORPHA:3473
3756	KCNH1	HP:0003298	Spina bifida occulta	-	OMIM:135500
3756	KCNH1	HP:0000977	Soft skin	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0000286	Epicanthus	3/6	OMIM:611816
3756	KCNH1	HP:0000286	Epicanthus	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0000280	Coarse facial features	2/6	OMIM:135500
3756	KCNH1	HP:0000280	Coarse facial features	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0000293	Full cheeks	1/6	OMIM:135500
3756	KCNH1	HP:0000293	Full cheeks	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0000294	Low anterior hairline	1/6	OMIM:135500
3756	KCNH1	HP:0000294	Low anterior hairline	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0000256	Macrocephaly	1/6	OMIM:135500
3756	KCNH1	HP:0000272	Malar flattening	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0000268	Dolichocephaly	1/6	OMIM:135500
3756	KCNH1	HP:0005113	Aortic arch aneurysm	-	OMIM:135500
3756	KCNH1	HP:0006391	Overtubulated long bones	HP:0040284	ORPHA:3473
3756	KCNH1	HP:0000252	Microcephaly	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0000218	High palate	-	OMIM:135500
3756	KCNH1	HP:0000218	High palate	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0000218	High palate	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0000212	Gingival overgrowth	5/6	OMIM:135500
3756	KCNH1	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0000232	Everted lower lip vermilion	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0001537	Umbilical hernia	-	OMIM:135500
3756	KCNH1	HP:0001507	Growth abnormality	-	OMIM:135500
3756	KCNH1	HP:0001510	Growth delay	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0000365	Hearing impairment	HP:0040283	OMIM:135500
3756	KCNH1	HP:0000358	Posteriorly rotated ears	-	OMIM:135500
3756	KCNH1	HP:0000369	Low-set ears	1/6	OMIM:135500
3756	KCNH1	HP:0000343	Long philtrum	6/6	OMIM:611816
3756	KCNH1	HP:0000343	Long philtrum	2/6	OMIM:135500
3756	KCNH1	HP:0000343	Long philtrum	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0000337	Broad forehead	1/6	OMIM:135500
3756	KCNH1	HP:0000348	High forehead	1/6	OMIM:135500
3756	KCNH1	HP:0000347	Micrognathia	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0000316	Hypertelorism	5/6	OMIM:611816
3756	KCNH1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0001643	Patent ductus arteriosus	-	OMIM:135500
3756	KCNH1	HP:0001642	Pulmonic stenosis	1/2	OMIM:611816
3756	KCNH1	HP:0000322	Short philtrum	1/6	OMIM:135500
3756	KCNH1	HP:0001638	Cardiomyopathy	-	OMIM:135500
3756	KCNH1	HP:0001631	Atrial septal defect	1/2	OMIM:611816
3756	KCNH1	HP:0000303	Mandibular prognathia	-	OMIM:135500
3756	KCNH1	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:3473
3756	KCNH1	HP:0000400	Macrotia	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0005280	Depressed nasal bridge	6/6	OMIM:611816
3756	KCNH1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0012471	Thick vermilion border	6/6	OMIM:611816
3756	KCNH1	HP:0012471	Thick vermilion border	2/6	OMIM:135500
3756	KCNH1	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0001792	Small nail	2/6	OMIM:135500
3756	KCNH1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0000455	Broad nasal tip	1/6	OMIM:135500
3756	KCNH1	HP:0000470	Short neck	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0001798	Anonychia	3/5	OMIM:135500
3756	KCNH1	HP:0001763	Pes planus	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0000445	Wide nose	HP:0040282	ORPHA:3473
3756	KCNH1	HP:0000445	Wide nose	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0000445	Wide nose	-	OMIM:611816
3756	KCNH1	HP:0000414	Bulbous nose	HP:0040282	ORPHA:3473
3756	KCNH1	HP:0001744	Splenomegaly	-	OMIM:135500
3756	KCNH1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0000431	Wide nasal bridge	-	OMIM:135500
3756	KCNH1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0001761	Pes cavus	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0000518	Cataract	-	OMIM:135500
3756	KCNH1	HP:0000518	Cataract	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0001847	Long hallux	6/6	OMIM:611816
3756	KCNH1	HP:0001847	Long hallux	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0000527	Long eyelashes	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0000527	Long eyelashes	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0001857	Short distal phalanx of toe	3/5	OMIM:135500
3756	KCNH1	HP:0001822	Hallux valgus	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0000506	Telecanthus	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0001804	Hypoplastic fingernail	HP:0040282	ORPHA:3473
3756	KCNH1	HP:0001804	Hypoplastic fingernail	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0001802	Absent toenail	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0001817	Absent fingernail	HP:0040282	ORPHA:3473
3756	KCNH1	HP:0012554	Absent thumbnail	2/6	OMIM:611816
3756	KCNH1	HP:0012555	Absent nail of hallux	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0012555	Absent nail of hallux	5/6	OMIM:611816
3756	KCNH1	HP:0012553	Hypoplastic thumbnail	HP:0040283	ORPHA:420561
3756	KCNH1	HP:0012553	Hypoplastic thumbnail	4/6	OMIM:611816
3756	KCNH1	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:3473
3756	KCNH1	HP:0000574	Thick eyebrow	2/6	OMIM:135500
3756	KCNH1	HP:0000574	Thick eyebrow	HP:0040282	ORPHA:420561
3756	KCNH1	HP:0001869	Deep plantar creases	HP:0040284	ORPHA:3473
3756	KCNH1	HP:0000545	Myopia	-	OMIM:135500
3757	KCNH2	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
3757	KCNH2	HP:0001279	Syncope	-	OMIM:609620
3757	KCNH2	HP:0001279	Syncope	HP:0040282	ORPHA:101016
3757	KCNH2	HP:0001279	Syncope	HP:0040283	ORPHA:51083
3757	KCNH2	HP:0001279	Syncope	3/4	OMIM:613688
3757	KCNH2	HP:0001250	Seizure	HP:0040283	ORPHA:101016
3757	KCNH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
3757	KCNH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613688
3757	KCNH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:609620
3757	KCNH2	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
3757	KCNH2	HP:0004757	Paroxysmal atrial fibrillation	-	OMIM:609620
3757	KCNH2	HP:0003581	Adult onset	4/5	OMIM:613688
3757	KCNH2	HP:0001962	Palpitations	-	OMIM:609620
3757	KCNH2	HP:0001962	Palpitations	HP:0040282	ORPHA:51083
3757	KCNH2	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
3757	KCNH2	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:51083
3757	KCNH2	HP:0011463	Childhood onset	1/4	OMIM:613688
3757	KCNH2	HP:0034303	Notched T wave	3/3	OMIM:613688
3757	KCNH2	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
3757	KCNH2	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
3757	KCNH2	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:51083
3757	KCNH2	HP:0012232	Shortened QT interval	HP:0040280	ORPHA:51083
3757	KCNH2	HP:0012232	Shortened QT interval	-	OMIM:609620
3757	KCNH2	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
3757	KCNH2	HP:0005184	Prolonged QTc interval	1/1	OMIM:613688
3757	KCNH2	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
3757	KCNH2	HP:0000365	Hearing impairment	-	ORPHA:101016
3757	KCNH2	HP:0001695	Cardiac arrest	-	OMIM:609620
3757	KCNH2	HP:0001695	Cardiac arrest	1/4	OMIM:613688
3757	KCNH2	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
3757	KCNH2	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
3757	KCNH2	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
3757	KCNH2	HP:0001664	Torsade de pointes	1/46	OMIM:115000
3757	KCNH2	HP:0001664	Torsade de pointes	-	OMIM:613688
3757	KCNH2	HP:0001678	Atrioventricular block	HP:0040283	ORPHA:51083
3757	KCNH2	HP:0001645	Sudden cardiac death	-	OMIM:609620
3757	KCNH2	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
3757	KCNH2	HP:0001645	Sudden cardiac death	-	OMIM:115000
3757	KCNH2	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:51083
3757	KCNH2	HP:0001645	Sudden cardiac death	2/5	OMIM:613688
3757	KCNH2	HP:0001663	Ventricular fibrillation	-	OMIM:115000
3757	KCNH2	HP:0001663	Ventricular fibrillation	-	OMIM:613688
3757	KCNH2	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:51083
3757	KCNH2	HP:0001662	Bradycardia	HP:0040281	ORPHA:51083
3757	KCNH2	HP:0001657	Prolonged QT interval	4/4	OMIM:613688
3757	KCNH2	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
3757	KCNH2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
3757	KCNH2	HP:0025708	Early young adult onset	1/1	OMIM:613688
3758	KCNJ1	HP:0001281	Tetany	-	OMIM:241200
3758	KCNJ1	HP:0001250	Seizure	-	OMIM:241200
3758	KCNJ1	HP:0001249	Intellectual disability	-	OMIM:241200
3758	KCNJ1	HP:0001263	Global developmental delay	-	OMIM:241200
3758	KCNJ1	HP:0000007	Autosomal recessive inheritance	-	OMIM:241200
3758	KCNJ1	HP:0002632	Low-to-normal blood pressure	-	OMIM:241200
3758	KCNJ1	HP:0000121	Nephrocalcinosis	7/8	OMIM:241200
3758	KCNJ1	HP:0000128	Renal potassium wasting	-	OMIM:241200
3758	KCNJ1	HP:0000127	Renal salt wasting	-	OMIM:241200
3758	KCNJ1	HP:0000111	Renal juxtaglomerular cell hypertrophy/hyperplasia	-	OMIM:241200
3758	KCNJ1	HP:0000103	Polyuria	-	OMIM:241200
3758	KCNJ1	HP:0002019	Constipation	-	OMIM:241200
3758	KCNJ1	HP:0002014	Diarrhea	-	OMIM:241200
3758	KCNJ1	HP:0002013	Vomiting	-	OMIM:241200
3758	KCNJ1	HP:0002007	Frontal bossing	-	OMIM:241200
3758	KCNJ1	HP:0003324	Generalized muscle weakness	-	OMIM:241200
3758	KCNJ1	HP:0003394	Muscle spasm	-	OMIM:241200
3758	KCNJ1	HP:0002150	Hypercalciuria	9/9	OMIM:241200
3758	KCNJ1	HP:0003401	Paresthesia	-	OMIM:241200
3758	KCNJ1	HP:0003566	Increased serum prostaglandin E2	-	OMIM:241200
3758	KCNJ1	HP:0003527	Hyperprostaglandinuria	-	OMIM:241200
3758	KCNJ1	HP:0003540	Impaired platelet aggregation	-	OMIM:241200
3758	KCNJ1	HP:0001090	Abnormally large globe	-	OMIM:241200
3758	KCNJ1	HP:0003623	Neonatal onset	9/9	OMIM:241200
3758	KCNJ1	HP:0001944	Dehydration	-	OMIM:241200
3758	KCNJ1	HP:0001945	Fever	-	OMIM:241200
3758	KCNJ1	HP:0001960	Hypokalemic metabolic alkalosis	9/9	OMIM:241200
3758	KCNJ1	HP:0001959	Polydipsia	-	OMIM:241200
3758	KCNJ1	HP:0004322	Short stature	-	OMIM:241200
3758	KCNJ1	HP:0003081	Increased urinary potassium	-	OMIM:241200
3758	KCNJ1	HP:0003113	Hypochloremia	-	OMIM:241200
3758	KCNJ1	HP:0003158	Hyposthenuria	-	OMIM:241200
3758	KCNJ1	HP:0000859	Increased circulating aldosterone concentration	9/9	OMIM:241200
3758	KCNJ1	HP:0000848	Increased circulating renin concentration	9/9	OMIM:241200
3758	KCNJ1	HP:0000841	Hyperactive renin-angiotensin system	-	OMIM:241200
3758	KCNJ1	HP:0000938	Osteopenia	-	OMIM:241200
3758	KCNJ1	HP:0000934	Chondrocalcinosis	-	OMIM:241200
3758	KCNJ1	HP:0000256	Macrocephaly	-	OMIM:241200
3758	KCNJ1	HP:0001561	Polyhydramnios	-	OMIM:241200
3758	KCNJ1	HP:0001563	Fetal polyuria	-	OMIM:241200
3758	KCNJ1	HP:0001508	Failure to thrive	-	OMIM:241200
3758	KCNJ1	HP:0001518	Small for gestational age	-	OMIM:241200
3758	KCNJ1	HP:0002917	Hypomagnesemia	HP:0040283	OMIM:241200
3758	KCNJ1	HP:0002914	Hyperchloriduria	-	OMIM:241200
3758	KCNJ1	HP:0002900	Hypokalemia	9/9	OMIM:241200
3758	KCNJ1	HP:0000325	Triangular face	-	OMIM:241200
3758	KCNJ1	HP:0001622	Premature birth	-	OMIM:241200
3758	KCNJ1	HP:0000400	Macrotia	-	OMIM:241200
3758	KCNJ1	HP:0011220	Prominent forehead	-	OMIM:241200
3759	KCNJ2	HP:0001156	Brachydactyly	-	OMIM:170390
3759	KCNJ2	HP:0003768	Periodic paralysis	2/2	OMIM:170390
3759	KCNJ2	HP:0003768	Periodic paralysis	HP:0040280	ORPHA:37553
3759	KCNJ2	HP:0003778	Short mandibular rami	-	OMIM:170390
3759	KCNJ2	HP:0003779	Antegonial notching of mandible	-	OMIM:170390
3759	KCNJ2	HP:0007215	Periodic hyperkalemic paralysis	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0003752	Episodic flaccid weakness	HP:0040281	ORPHA:37553
3759	KCNJ2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3759	KCNJ2	HP:0001293	Cranial nerve compression	-	OMIM:131300
3759	KCNJ2	HP:0001279	Syncope	0/7	OMIM:613980
3759	KCNJ2	HP:0001279	Syncope	HP:0040282	ORPHA:334
3759	KCNJ2	HP:0001279	Syncope	-	OMIM:170390
3759	KCNJ2	HP:0001279	Syncope	HP:0040283	ORPHA:51083
3759	KCNJ2	HP:0001279	Syncope	HP:0040284	ORPHA:37553
3759	KCNJ2	HP:0001250	Seizure	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0001252	Hypotonia	2/7	OMIM:615777
3759	KCNJ2	HP:0001249	Intellectual disability	5/7	OMIM:615777
3759	KCNJ2	HP:0001263	Global developmental delay	-	OMIM:615777
3759	KCNJ2	HP:0002515	Waddling gait	54/102	OMIM:131300
3759	KCNJ2	HP:0000089	Renal hypoplasia	HP:0040284	ORPHA:37553
3759	KCNJ2	HP:0001382	Joint hypermobility	-	OMIM:615777
3759	KCNJ2	HP:0001382	Joint hypermobility	-	OMIM:170390
3759	KCNJ2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3759	KCNJ2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3759	KCNJ2	HP:0001328	Specific learning disability	HP:0040283	OMIM:170390
3759	KCNJ2	HP:0001328	Specific learning disability	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3759	KCNJ2	HP:0001324	Muscle weakness	40/96	OMIM:131300
3759	KCNJ2	HP:0001324	Muscle weakness	HP:0040280	ORPHA:37553
3759	KCNJ2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3759	KCNJ2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3759	KCNJ2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613980
3759	KCNJ2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
3759	KCNJ2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3759	KCNJ2	HP:0000006	Autosomal dominant inheritance	-	OMIM:609622
3759	KCNJ2	HP:0000006	Autosomal dominant inheritance	-	OMIM:170390
3759	KCNJ2	HP:0002650	Scoliosis	-	OMIM:170390
3759	KCNJ2	HP:0002650	Scoliosis	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0002650	Scoliosis	12/14	OMIM:131300
3759	KCNJ2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3759	KCNJ2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3759	KCNJ2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3759	KCNJ2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3759	KCNJ2	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:37553
3759	KCNJ2	HP:0000175	Cleft palate	2/7	OMIM:615777
3759	KCNJ2	HP:0000175	Cleft palate	-	OMIM:170390
3759	KCNJ2	HP:0006335	Persistence of primary teeth	-	OMIM:170390
3759	KCNJ2	HP:0006335	Persistence of primary teeth	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0006297	Enamel hypoplasia	-	OMIM:170390
3759	KCNJ2	HP:0000124	Renal tubular dysfunction	HP:0040284	ORPHA:37553
3759	KCNJ2	HP:0002750	Delayed skeletal maturation	-	OMIM:170390
3759	KCNJ2	HP:0004691	2-3 toe syndactyly	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
3759	KCNJ2	HP:0003388	Easy fatigability	36/76	OMIM:131300
3759	KCNJ2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3759	KCNJ2	HP:0008153	Periodic hypokalemic paresis	-	OMIM:170390
3759	KCNJ2	HP:0008153	Periodic hypokalemic paresis	HP:0040282	ORPHA:37553
3759	KCNJ2	HP:0004757	Paroxysmal atrial fibrillation	2/4	OMIM:609622
3759	KCNJ2	HP:0004757	Paroxysmal atrial fibrillation	3/7	OMIM:613980
3759	KCNJ2	HP:0004754	Permanent atrial fibrillation	2/7	OMIM:613980
3759	KCNJ2	HP:0003596	Middle age onset	5/5	OMIM:613980
3759	KCNJ2	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
3759	KCNJ2	HP:0100749	Chest pain	HP:0040282	ORPHA:334
3759	KCNJ2	HP:0003510	Severe short stature	7/7	OMIM:615777
3759	KCNJ2	HP:0003691	Scapular winging	-	OMIM:170390
3759	KCNJ2	HP:0002321	Vertigo	HP:0040282	ORPHA:334
3759	KCNJ2	HP:0002315	Headache	-	OMIM:131300
3759	KCNJ2	HP:0004976	Knee dislocation	6/7	OMIM:615777
3759	KCNJ2	HP:0025072	Prominent U wave	-	OMIM:170390
3759	KCNJ2	HP:0025072	Prominent U wave	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0009803	Short phalanx of finger	-	OMIM:615777
3759	KCNJ2	HP:0009803	Short phalanx of finger	-	OMIM:170390
3759	KCNJ2	HP:0200055	Small hand	2/2	OMIM:170390
3759	KCNJ2	HP:0200055	Small hand	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0010743	Short metatarsal	-	OMIM:170390
3759	KCNJ2	HP:0009763	Limb pain	63/92	OMIM:131300
3759	KCNJ2	HP:0003621	Juvenile onset	1/1	OMIM:609622
3759	KCNJ2	HP:0003621	Juvenile onset	1/2	OMIM:170390
3759	KCNJ2	HP:0003621	Juvenile onset	-	OMIM:131300
3759	KCNJ2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3759	KCNJ2	HP:0004209	Clinodactyly of the 5th finger	1/2	OMIM:170390
3759	KCNJ2	HP:0004279	Short palm	-	OMIM:170390
3759	KCNJ2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3759	KCNJ2	HP:0001962	Palpitations	1/4	OMIM:609622
3759	KCNJ2	HP:0001962	Palpitations	4/7	OMIM:613980
3759	KCNJ2	HP:0001962	Palpitations	HP:0040282	ORPHA:334
3759	KCNJ2	HP:0001962	Palpitations	-	OMIM:170390
3759	KCNJ2	HP:0001962	Palpitations	HP:0040282	ORPHA:51083
3759	KCNJ2	HP:0001962	Palpitations	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:6001056	Out-toeing	-	OMIM:131300
3759	KCNJ2	HP:0000651	Diplopia	-	OMIM:131300
3759	KCNJ2	HP:0001956	Truncal obesity	2/7	OMIM:615777
3759	KCNJ2	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
3759	KCNJ2	HP:0001903	Anemia	HP:0040283	OMIM:131300
3759	KCNJ2	HP:0010049	Short metacarpal	-	OMIM:615777
3759	KCNJ2	HP:0010049	Short metacarpal	-	OMIM:170390
3759	KCNJ2	HP:0000696	Delayed eruption of permanent teeth	-	OMIM:170390
3759	KCNJ2	HP:0000678	Dental crowding	-	OMIM:615777
3759	KCNJ2	HP:0000678	Dental crowding	2/2	OMIM:170390
3759	KCNJ2	HP:0000678	Dental crowding	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0000677	Oligodontia	-	OMIM:170390
3759	KCNJ2	HP:0000677	Oligodontia	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0012663	Mildly reduced left ventricular ejection fraction	1/4	OMIM:609622
3759	KCNJ2	HP:0000670	Carious teeth	-	OMIM:131300
3759	KCNJ2	HP:0011304	Broad thumb	2/7	OMIM:615777
3759	KCNJ2	HP:0000668	Hypodontia	-	OMIM:615777
3759	KCNJ2	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:37553
3759	KCNJ2	HP:0000664	Synophrys	-	OMIM:615777
3759	KCNJ2	HP:0004322	Short stature	HP:0040282	ORPHA:37553
3759	KCNJ2	HP:0004322	Short stature	1/2	OMIM:170390
3759	KCNJ2	HP:0031972	Presyncope	1/4	OMIM:609622
3759	KCNJ2	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:51083
3759	KCNJ2	HP:0004308	Ventricular arrhythmia	HP:0040282	ORPHA:37553
3759	KCNJ2	HP:0004396	Poor appetite	-	OMIM:131300
3759	KCNJ2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3759	KCNJ2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3759	KCNJ2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3759	KCNJ2	HP:0003026	Short long bone	7/7	OMIM:615777
3759	KCNJ2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3759	KCNJ2	HP:0012745	Short palpebral fissure	-	OMIM:170390
3759	KCNJ2	HP:0012745	Short palpebral fissure	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3759	KCNJ2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3759	KCNJ2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3759	KCNJ2	HP:0000750	Delayed speech and language development	-	OMIM:615777
3759	KCNJ2	HP:0000716	Depression	-	OMIM:170390
3759	KCNJ2	HP:0011461	Fetal onset	7/7	OMIM:615777
3759	KCNJ2	HP:0000774	Narrow chest	2/7	OMIM:615777
3759	KCNJ2	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0003100	Slender long bone	-	OMIM:170390
3759	KCNJ2	HP:0030799	Scaphocephaly	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0000926	Platyspondyly	1/7	OMIM:615777
3759	KCNJ2	HP:0003180	Flat acetabular roof	-	OMIM:615777
3759	KCNJ2	HP:0004482	Relative macrocephaly	-	OMIM:615777
3759	KCNJ2	HP:0004467	Preauricular pit	-	OMIM:170390
3759	KCNJ2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3759	KCNJ2	HP:0000859	Increased circulating aldosterone concentration	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0000836	Hyperthyroidism	1/2	OMIM:170390
3759	KCNJ2	HP:0000823	Delayed puberty	-	OMIM:131300
3759	KCNJ2	HP:0000894	Short clavicles	-	OMIM:615777
3759	KCNJ2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3759	KCNJ2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3759	KCNJ2	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
3759	KCNJ2	HP:0000286	Epicanthus	1/7	OMIM:615777
3759	KCNJ2	HP:0000280	Coarse facial features	2/7	OMIM:615777
3759	KCNJ2	HP:0000272	Malar flattening	-	OMIM:170390
3759	KCNJ2	HP:0005135	Abnormal T-wave	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0005147	Bidirectional ventricular ectopy	-	OMIM:170390
3759	KCNJ2	HP:0005147	Bidirectional ventricular ectopy	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
3759	KCNJ2	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:51083
3759	KCNJ2	HP:0002827	Hip dislocation	3/7	OMIM:615777
3759	KCNJ2	HP:0012232	Shortened QT interval	4/4	OMIM:609622
3759	KCNJ2	HP:0012232	Shortened QT interval	HP:0040280	ORPHA:51083
3759	KCNJ2	HP:0000252	Microcephaly	-	OMIM:170390
3759	KCNJ2	HP:0000252	Microcephaly	-	OMIM:615777
3759	KCNJ2	HP:0000219	Thin upper lip vermilion	20/20	OMIM:170390
3759	KCNJ2	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0000218	High palate	-	OMIM:170390
3759	KCNJ2	HP:0000218	High palate	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0002857	Genu valgum	-	OMIM:131300
3759	KCNJ2	HP:0001533	Slender build	-	OMIM:131300
3759	KCNJ2	HP:0030033	Small finger	1/2	OMIM:170390
3759	KCNJ2	HP:0001507	Growth abnormality	-	OMIM:170390
3759	KCNJ2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3759	KCNJ2	HP:0001510	Growth delay	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0007807	Optic nerve compression	-	OMIM:131300
3759	KCNJ2	HP:0011073	Abnormality of dental color	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0012378	Fatigue	HP:0040282	ORPHA:334
3759	KCNJ2	HP:0012368	Flat face	7/7	OMIM:615777
3759	KCNJ2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3759	KCNJ2	HP:0005184	Prolonged QTc interval	1/2	OMIM:170390
3759	KCNJ2	HP:0005184	Prolonged QTc interval	0/7	OMIM:613980
3759	KCNJ2	HP:0005184	Prolonged QTc interval	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0002900	Hypokalemia	-	OMIM:170390
3759	KCNJ2	HP:0000365	Hearing impairment	10/67	OMIM:131300
3759	KCNJ2	HP:0000369	Low-set ears	-	OMIM:170390
3759	KCNJ2	HP:0000369	Low-set ears	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0000343	Long philtrum	1/7	OMIM:615777
3759	KCNJ2	HP:0011001	Increased bone mineral density	-	OMIM:131300
3759	KCNJ2	HP:0000337	Broad forehead	-	OMIM:170390
3759	KCNJ2	HP:0000337	Broad forehead	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0001664	Torsade de pointes	1/46	OMIM:115000
3759	KCNJ2	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0001678	Atrioventricular block	HP:0040283	ORPHA:51083
3759	KCNJ2	HP:0000347	Micrognathia	2/2	OMIM:170390
3759	KCNJ2	HP:0000347	Micrognathia	HP:0040282	ORPHA:37553
3759	KCNJ2	HP:0000316	Hypertelorism	2/2	OMIM:170390
3759	KCNJ2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0000311	Round face	2/7	OMIM:615777
3759	KCNJ2	HP:0001645	Sudden cardiac death	0/4	OMIM:609622
3759	KCNJ2	HP:0001645	Sudden cardiac death	-	OMIM:115000
3759	KCNJ2	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:51083
3759	KCNJ2	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0001663	Ventricular fibrillation	-	OMIM:115000
3759	KCNJ2	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:51083
3759	KCNJ2	HP:0001662	Bradycardia	HP:0040281	ORPHA:51083
3759	KCNJ2	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
3759	KCNJ2	HP:0000327	Hypoplasia of the maxilla	-	OMIM:170390
3759	KCNJ2	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0001657	Prolonged QT interval	-	OMIM:170390
3759	KCNJ2	HP:0001657	Prolonged QT interval	HP:0040282	ORPHA:37553
3759	KCNJ2	HP:0000325	Triangular face	-	OMIM:170390
3759	KCNJ2	HP:0000325	Triangular face	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0000324	Facial asymmetry	-	OMIM:170390
3759	KCNJ2	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0002970	Genu varum	-	OMIM:615777
3759	KCNJ2	HP:0000303	Mandibular prognathia	-	OMIM:131300
3759	KCNJ2	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
3759	KCNJ2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
3759	KCNJ2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0006682	Premature ventricular contraction	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
3759	KCNJ2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3759	KCNJ2	HP:0000470	Short neck	1/7	OMIM:615777
3759	KCNJ2	HP:0001770	Toe syndactyly	-	OMIM:170390
3759	KCNJ2	HP:0001773	Short foot	-	OMIM:170390
3759	KCNJ2	HP:0001773	Short foot	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3759	KCNJ2	HP:0001763	Pes planus	1/7	OMIM:615777
3759	KCNJ2	HP:0000414	Bulbous nose	-	OMIM:170390
3759	KCNJ2	HP:0000414	Bulbous nose	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0025708	Early young adult onset	1/2	OMIM:170390
3759	KCNJ2	HP:0005478	Prominent frontal sinuses	-	OMIM:170390
3759	KCNJ2	HP:0001840	Metatarsus adductus	-	OMIM:615777
3759	KCNJ2	HP:0000520	Proptosis	2/4	OMIM:131300
3759	KCNJ2	HP:0000520	Proptosis	7/7	OMIM:615777
3759	KCNJ2	HP:0031677	Polymorphic ventricular tachycardia	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0000581	Blepharophimosis	-	OMIM:170390
3759	KCNJ2	HP:0000592	Blue sclerae	2/7	OMIM:615777
3759	KCNJ2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3759	KCNJ2	HP:0001864	Clinodactyly of the 5th toe	-	OMIM:170390
3759	KCNJ2	HP:0001864	Clinodactyly of the 5th toe	HP:0040283	ORPHA:37553
3759	KCNJ2	HP:0012514	Lower limb pain	4/4	OMIM:131300
3760	KCNJ3	HP:0001279	Syncope	HP:0040282	ORPHA:334
3760	KCNJ3	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
3760	KCNJ3	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
3760	KCNJ3	HP:0100749	Chest pain	HP:0040282	ORPHA:334
3760	KCNJ3	HP:0002321	Vertigo	HP:0040282	ORPHA:334
3760	KCNJ3	HP:0001962	Palpitations	HP:0040282	ORPHA:334
3760	KCNJ3	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
3760	KCNJ3	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
3760	KCNJ3	HP:0012378	Fatigue	HP:0040282	ORPHA:334
3760	KCNJ3	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
3760	KCNJ3	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
3762	KCNJ5	HP:0003768	Periodic paralysis	HP:0040280	ORPHA:37553
3762	KCNJ5	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
3762	KCNJ5	HP:0007215	Periodic hyperkalemic paralysis	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0003752	Episodic flaccid weakness	HP:0040281	ORPHA:37553
3762	KCNJ5	HP:0001279	Syncope	HP:0040282	ORPHA:334
3762	KCNJ5	HP:0001279	Syncope	HP:0040282	ORPHA:101016
3762	KCNJ5	HP:0001279	Syncope	10/12	OMIM:613485
3762	KCNJ5	HP:0001279	Syncope	HP:0040284	ORPHA:37553
3762	KCNJ5	HP:0001250	Seizure	HP:0040283	ORPHA:101016
3762	KCNJ5	HP:0001250	Seizure	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0000089	Renal hypoplasia	HP:0040284	ORPHA:37553
3762	KCNJ5	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0001328	Specific learning disability	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0001324	Muscle weakness	HP:0040283	ORPHA:251274
3762	KCNJ5	HP:0001324	Muscle weakness	HP:0040280	ORPHA:37553
3762	KCNJ5	HP:0000006	Autosomal dominant inheritance	-	OMIM:613485
3762	KCNJ5	HP:0000006	Autosomal dominant inheritance	-	OMIM:613677
3762	KCNJ5	HP:0002650	Scoliosis	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:37553
3762	KCNJ5	HP:0006335	Persistence of primary teeth	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
3762	KCNJ5	HP:0000124	Renal tubular dysfunction	HP:0040284	ORPHA:37553
3762	KCNJ5	HP:0000103	Polyuria	HP:0040283	OMIM:613677
3762	KCNJ5	HP:0003351	Decreased circulating renin concentration	13/13	OMIM:613677
3762	KCNJ5	HP:0002018	Nausea	HP:0040283	ORPHA:251274
3762	KCNJ5	HP:0004691	2-3 toe syndactyly	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
3762	KCNJ5	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	HP:0040281	ORPHA:251274
3762	KCNJ5	HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	-	ORPHA:251274
3762	KCNJ5	HP:0008153	Periodic hypokalemic paresis	HP:0040282	ORPHA:37553
3762	KCNJ5	HP:0002150	Hypercalciuria	HP:0040283	OMIM:613677
3762	KCNJ5	HP:0002150	Hypercalciuria	HP:0040283	ORPHA:251274
3762	KCNJ5	HP:0004754	Permanent atrial fibrillation	3/11	OMIM:613485
3762	KCNJ5	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:251274
3762	KCNJ5	HP:0008221	Adrenal hyperplasia	-	OMIM:613677
3762	KCNJ5	HP:0008221	Adrenal hyperplasia	HP:0040281	ORPHA:251274
3762	KCNJ5	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
3762	KCNJ5	HP:0200114	Metabolic alkalosis	HP:0040283	ORPHA:251274
3762	KCNJ5	HP:0002204	Pulmonary embolism	1/9	OMIM:613485
3762	KCNJ5	HP:0100749	Chest pain	HP:0040282	ORPHA:334
3762	KCNJ5	HP:0002321	Vertigo	HP:0040282	ORPHA:334
3762	KCNJ5	HP:0002315	Headache	HP:0040283	ORPHA:251274
3762	KCNJ5	HP:0025072	Prominent U wave	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0200055	Small hand	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0003623	Neonatal onset	1/2	OMIM:613485
3762	KCNJ5	HP:0001962	Palpitations	HP:0040282	ORPHA:334
3762	KCNJ5	HP:0001962	Palpitations	11/11	OMIM:613485
3762	KCNJ5	HP:0001962	Palpitations	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0001942	Metabolic acidosis	HP:0040283	OMIM:613677
3762	KCNJ5	HP:0001959	Polydipsia	HP:0040283	OMIM:613677
3762	KCNJ5	HP:0001959	Polydipsia	HP:0040283	ORPHA:251274
3762	KCNJ5	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
3762	KCNJ5	HP:0012664	Reduced left ventricular ejection fraction	0/9	OMIM:613485
3762	KCNJ5	HP:0000678	Dental crowding	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0000677	Oligodontia	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:37553
3762	KCNJ5	HP:0004322	Short stature	HP:0040282	ORPHA:37553
3762	KCNJ5	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
3762	KCNJ5	HP:0004308	Ventricular arrhythmia	HP:0040282	ORPHA:37553
3762	KCNJ5	HP:0012745	Short palpebral fissure	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0030799	Scaphocephaly	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0000859	Increased circulating aldosterone concentration	3/3	OMIM:613677
3762	KCNJ5	HP:0000859	Increased circulating aldosterone concentration	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0000822	Hypertension	HP:0040280	ORPHA:251274
3762	KCNJ5	HP:0000822	Hypertension	3/3	OMIM:613677
3762	KCNJ5	HP:0040084	Abnormal circulating renin concentration	HP:0040280	ORPHA:251274
3762	KCNJ5	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
3762	KCNJ5	HP:0005135	Abnormal T-wave	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0005147	Bidirectional ventricular ectopy	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
3762	KCNJ5	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0000218	High palate	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0001510	Growth delay	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0011073	Abnormality of dental color	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0012378	Fatigue	HP:0040282	ORPHA:334
3762	KCNJ5	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
3762	KCNJ5	HP:0005184	Prolonged QTc interval	5/10	OMIM:613485
3762	KCNJ5	HP:0005184	Prolonged QTc interval	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
3762	KCNJ5	HP:0002900	Hypokalemia	-	OMIM:613677
3762	KCNJ5	HP:0002900	Hypokalemia	HP:0040281	ORPHA:251274
3762	KCNJ5	HP:0000365	Hearing impairment	-	ORPHA:101016
3762	KCNJ5	HP:0001695	Cardiac arrest	-	OMIM:613485
3762	KCNJ5	HP:0000360	Tinnitus	HP:0040283	ORPHA:251274
3762	KCNJ5	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
3762	KCNJ5	HP:0000369	Low-set ears	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
3762	KCNJ5	HP:0000337	Broad forehead	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
3762	KCNJ5	HP:0001664	Torsade de pointes	1/11	OMIM:613485
3762	KCNJ5	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0001678	Atrioventricular block	1/9	OMIM:613485
3762	KCNJ5	HP:0000347	Micrognathia	HP:0040282	ORPHA:37553
3762	KCNJ5	HP:0000316	Hypertelorism	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
3762	KCNJ5	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
3762	KCNJ5	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0001657	Prolonged QT interval	HP:0040283	ORPHA:251274
3762	KCNJ5	HP:0001657	Prolonged QT interval	HP:0040282	ORPHA:37553
3762	KCNJ5	HP:0000325	Triangular face	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0001635	Congestive heart failure	3/9	OMIM:613485
3762	KCNJ5	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0006682	Premature ventricular contraction	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
3762	KCNJ5	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:251274
3762	KCNJ5	HP:0001773	Short foot	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0000414	Bulbous nose	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0025708	Early young adult onset	1/2	OMIM:613485
3762	KCNJ5	HP:0000421	Epistaxis	HP:0040283	ORPHA:251274
3762	KCNJ5	HP:0031677	Polymorphic ventricular tachycardia	HP:0040283	ORPHA:37553
3762	KCNJ5	HP:0001864	Clinodactyly of the 5th toe	HP:0040283	ORPHA:37553
3763	KCNJ6	HP:0009933	Narrow naris	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0009933	Narrow naris	1/3	OMIM:614098
3763	KCNJ6	HP:0010864	Intellectual disability, severe	-	OMIM:614098
3763	KCNJ6	HP:0001276	Hypertonia	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0001276	Hypertonia	1/3	OMIM:614098
3763	KCNJ6	HP:0001285	Spastic tetraparesis	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0001285	Spastic tetraparesis	1/3	OMIM:614098
3763	KCNJ6	HP:0001250	Seizure	HP:0040283	ORPHA:435628
3763	KCNJ6	HP:0001250	Seizure	1/3	OMIM:614098
3763	KCNJ6	HP:0001249	Intellectual disability	HP:0040281	ORPHA:435628
3763	KCNJ6	HP:0001263	Global developmental delay	2/3	OMIM:614098
3763	KCNJ6	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0001371	Flexion contracture	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0001371	Flexion contracture	1/3	OMIM:614098
3763	KCNJ6	HP:0001347	Hyperreflexia	-	OMIM:614098
3763	KCNJ6	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:435628
3763	KCNJ6	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0007485	Absence of subcutaneous fat	1/3	OMIM:614098
3763	KCNJ6	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:435628
3763	KCNJ6	HP:0000006	Autosomal dominant inheritance	-	OMIM:614098
3763	KCNJ6	HP:0002650	Scoliosis	4/5	OMIM:614098
3763	KCNJ6	HP:0002650	Scoliosis	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0000194	Open mouth	HP:0040281	ORPHA:435628
3763	KCNJ6	HP:0000194	Open mouth	1/3	OMIM:614098
3763	KCNJ6	HP:0002781	Upper airway obstruction	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0002781	Upper airway obstruction	1/3	OMIM:614098
3763	KCNJ6	HP:0002094	Dyspnea	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0002093	Respiratory insufficiency	1/3	OMIM:614098
3763	KCNJ6	HP:0002187	Intellectual disability, profound	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0002179	Opisthotonus	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0002179	Opisthotonus	1/3	OMIM:614098
3763	KCNJ6	HP:0003577	Congenital onset	3/3	OMIM:614098
3763	KCNJ6	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/3	OMIM:614098
3763	KCNJ6	HP:0100678	Premature skin wrinkling	HP:0040281	ORPHA:435628
3763	KCNJ6	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0010804	Tented upper lip vermilion	-	OMIM:614098
3763	KCNJ6	HP:0001090	Abnormally large globe	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0001090	Abnormally large globe	-	OMIM:614098
3763	KCNJ6	HP:0010751	Dimple chin	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0009064	Generalized lipodystrophy	1/3	OMIM:614098
3763	KCNJ6	HP:0009059	Congenital generalized lipodystrophy	HP:0040280	ORPHA:435628
3763	KCNJ6	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0006956	Lateral ventricle dilatation	2/3	OMIM:614098
3763	KCNJ6	HP:0009125	Lipodystrophy	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0003292	Decreased serum leptin	1/1	OMIM:614098
3763	KCNJ6	HP:0000298	Mask-like facies	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0000292	Loss of facial adipose tissue	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0000290	Abnormal forehead morphology	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0000252	Microcephaly	HP:0040281	ORPHA:435628
3763	KCNJ6	HP:0000252	Microcephaly	-	OMIM:614098
3763	KCNJ6	HP:0000218	High palate	1/3	OMIM:614098
3763	KCNJ6	HP:0000218	High palate	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0000212	Gingival overgrowth	1/3	OMIM:614098
3763	KCNJ6	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0001561	Polyhydramnios	1/3	OMIM:614098
3763	KCNJ6	HP:0001508	Failure to thrive	-	OMIM:614098
3763	KCNJ6	HP:0001508	Failure to thrive	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0006532	Recurrent pneumonia	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0006532	Recurrent pneumonia	1/3	OMIM:614098
3763	KCNJ6	HP:0000347	Micrognathia	1/3	OMIM:614098
3763	KCNJ6	HP:0000347	Micrognathia	HP:0040281	ORPHA:435628
3763	KCNJ6	HP:0000322	Short philtrum	HP:0040281	ORPHA:435628
3763	KCNJ6	HP:0000322	Short philtrum	-	OMIM:614098
3763	KCNJ6	HP:0005328	Progeroid facial appearance	HP:0040280	ORPHA:435628
3763	KCNJ6	HP:0005328	Progeroid facial appearance	-	OMIM:614098
3763	KCNJ6	HP:0005320	Lack of facial subcutaneous fat	2/3	OMIM:614098
3763	KCNJ6	HP:0005274	Prominent nasal tip	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0000446	Narrow nasal bridge	1/3	OMIM:614098
3763	KCNJ6	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0000430	Underdeveloped nasal alae	1/3	OMIM:614098
3763	KCNJ6	HP:0000520	Proptosis	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0000520	Proptosis	2/3	OMIM:614098
3763	KCNJ6	HP:0000586	Shallow orbits	HP:0040282	ORPHA:435628
3763	KCNJ6	HP:0000586	Shallow orbits	1/3	OMIM:614098
3764	KCNJ8	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0001279	Syncope	HP:0040282	ORPHA:130
3764	KCNJ8	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:1517
3764	KCNJ8	HP:0002673	Coxa valga	HP:0040281	ORPHA:1517
3764	KCNJ8	HP:0002652	Skeletal dysplasia	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0000154	Wide mouth	HP:0040281	ORPHA:1517
3764	KCNJ8	HP:0007665	Curly eyelashes	HP:0040281	ORPHA:1517
3764	KCNJ8	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0004634	Cuboid-shaped vertebral bodies	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0003300	Ovoid vertebral bodies	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
3764	KCNJ8	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
3764	KCNJ8	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
3764	KCNJ8	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
3764	KCNJ8	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
3764	KCNJ8	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
3764	KCNJ8	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:1517
3764	KCNJ8	HP:0002230	Generalized hirsutism	HP:0040281	ORPHA:1517
3764	KCNJ8	HP:0010059	Broad hallux phalanx	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
3764	KCNJ8	HP:0005616	Accelerated skeletal maturation	HP:0040283	ORPHA:1517
3764	KCNJ8	HP:0010109	Short hallux	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0000774	Narrow chest	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0000926	Platyspondyly	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0000885	Broad ribs	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0000939	Osteoporosis	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1517
3764	KCNJ8	HP:0000286	Epicanthus	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1517
3764	KCNJ8	HP:0000294	Low anterior hairline	HP:0040281	ORPHA:1517
3764	KCNJ8	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
3764	KCNJ8	HP:0000256	Macrocephaly	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
3764	KCNJ8	HP:0000343	Long philtrum	HP:0040281	ORPHA:1517
3764	KCNJ8	HP:0000336	Prominent supraorbital ridges	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
3764	KCNJ8	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
3764	KCNJ8	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:1517
3764	KCNJ8	HP:0001640	Cardiomegaly	HP:0040281	ORPHA:1517
3764	KCNJ8	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:1517
3764	KCNJ8	HP:0012471	Thick vermilion border	HP:0040281	ORPHA:1517
3764	KCNJ8	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0000470	Short neck	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:1517
3764	KCNJ8	HP:0000527	Long eyelashes	HP:0040281	ORPHA:1517
3764	KCNJ8	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:1517
3764	KCNJ8	HP:0001869	Deep plantar creases	HP:0040282	ORPHA:1517
3766	KCNJ10	HP:0007267	Chronic axonal neuropathy	-	OMIM:612780
3766	KCNJ10	HP:0008586	Hypoplasia of the cochlea	HP:0040281	ORPHA:705
3766	KCNJ10	HP:0008554	Cochlear malformation	-	OMIM:274600
3766	KCNJ10	HP:0001290	Generalized hypotonia	-	OMIM:612780
3766	KCNJ10	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:199343
3766	KCNJ10	HP:0001272	Cerebellar atrophy	2/5	OMIM:612780
3766	KCNJ10	HP:0001288	Gait disturbance	HP:0040283	ORPHA:199343
3766	KCNJ10	HP:0001250	Seizure	HP:0040281	ORPHA:199343
3766	KCNJ10	HP:0001250	Seizure	-	OMIM:612780
3766	KCNJ10	HP:0001250	Seizure	HP:0040283	ORPHA:98809
3766	KCNJ10	HP:0001252	Hypotonia	-	OMIM:612780
3766	KCNJ10	HP:0001251	Ataxia	HP:0040281	ORPHA:199343
3766	KCNJ10	HP:0001251	Ataxia	5/5	OMIM:612780
3766	KCNJ10	HP:0001251	Ataxia	HP:0040283	ORPHA:705
3766	KCNJ10	HP:0001249	Intellectual disability	HP:0040281	ORPHA:199343
3766	KCNJ10	HP:0001249	Intellectual disability	-	OMIM:274600
3766	KCNJ10	HP:0001249	Intellectual disability	HP:0040283	ORPHA:705
3766	KCNJ10	HP:0001249	Intellectual disability	-	OMIM:612780
3766	KCNJ10	HP:0001263	Global developmental delay	HP:0040281	ORPHA:199343
3766	KCNJ10	HP:0001263	Global developmental delay	5/5	OMIM:612780
3766	KCNJ10	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:199343
3766	KCNJ10	HP:0002540	Inability to walk	HP:0040283	ORPHA:199343
3766	KCNJ10	HP:0001332	Dystonia	HP:0040281	ORPHA:98809
3766	KCNJ10	HP:0001344	Absent speech	HP:0040283	ORPHA:199343
3766	KCNJ10	HP:0000007	Autosomal recessive inheritance	-	OMIM:600791
3766	KCNJ10	HP:0000007	Autosomal recessive inheritance	-	OMIM:612780
3766	KCNJ10	HP:0000007	Autosomal recessive inheritance	-	OMIM:274600
3766	KCNJ10	HP:0025484	Increased circulating thyroglobulin concentration	11/14	OMIM:274600
3766	KCNJ10	HP:0002777	Tracheal stenosis	HP:0040283	ORPHA:705
3766	KCNJ10	HP:0000128	Renal potassium wasting	10/10	OMIM:612780
3766	KCNJ10	HP:0000127	Renal salt wasting	5/5	OMIM:612780
3766	KCNJ10	HP:0000127	Renal salt wasting	HP:0040281	ORPHA:199343
3766	KCNJ10	HP:0000112	Nephropathy	HP:0040283	ORPHA:705
3766	KCNJ10	HP:0000103	Polyuria	-	OMIM:612780
3766	KCNJ10	HP:0002080	Intention tremor	-	OMIM:612780
3766	KCNJ10	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:705
3766	KCNJ10	HP:0002076	Migraine	HP:0040283	ORPHA:98809
3766	KCNJ10	HP:0002075	Dysdiadochokinesis	-	OMIM:612780
3766	KCNJ10	HP:0002072	Chorea	HP:0040281	ORPHA:98809
3766	KCNJ10	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:199343
3766	KCNJ10	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:199343
3766	KCNJ10	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:705
3766	KCNJ10	HP:0008223	Compensated hypothyroidism	-	OMIM:274600
3766	KCNJ10	HP:0003593	Infantile onset	4/4	OMIM:612780
3766	KCNJ10	HP:0003577	Congenital onset	10/10	OMIM:600791
3766	KCNJ10	HP:0200114	Metabolic alkalosis	HP:0040281	ORPHA:199343
3766	KCNJ10	HP:0032067	Elevated serum bicarbonate concentration	5/5	OMIM:612780
3766	KCNJ10	HP:0002345	Action tremor	HP:0040282	ORPHA:199343
3766	KCNJ10	HP:0002356	Writer's cramp	HP:0040283	ORPHA:98809
3766	KCNJ10	HP:0002321	Vertigo	HP:0040283	ORPHA:705
3766	KCNJ10	HP:0100660	Dyskinesia	HP:0040281	ORPHA:98809
3766	KCNJ10	HP:0008527	Congenital sensorineural hearing impairment	15/15	OMIM:274600
3766	KCNJ10	HP:0002305	Athetosis	HP:0040281	ORPHA:98809
3766	KCNJ10	HP:0007182	Peripheral hypomyelination	HP:0040283	ORPHA:199343
3766	KCNJ10	HP:0007182	Peripheral hypomyelination	HP:0040283	OMIM:612780
3766	KCNJ10	HP:0005567	Renal magnesium wasting	HP:0040281	ORPHA:199343
3766	KCNJ10	HP:0012606	Renal sodium wasting	HP:0040281	ORPHA:199343
3766	KCNJ10	HP:0012606	Renal sodium wasting	5/5	OMIM:612780
3766	KCNJ10	HP:0001960	Hypokalemic metabolic alkalosis	5/5	OMIM:612780
3766	KCNJ10	HP:0001959	Polydipsia	HP:0040282	ORPHA:199343
3766	KCNJ10	HP:0001959	Polydipsia	-	OMIM:612780
3766	KCNJ10	HP:0011387	Enlarged vestibular aqueduct	3/3	OMIM:600791
3766	KCNJ10	HP:0011387	Enlarged vestibular aqueduct	HP:0040281	ORPHA:705
3766	KCNJ10	HP:0004322	Short stature	HP:0040283	OMIM:612780
3766	KCNJ10	HP:0004305	Involuntary movements	HP:0040281	ORPHA:98809
3766	KCNJ10	HP:0000805	Enuresis	-	OMIM:612780
3766	KCNJ10	HP:0000805	Enuresis	HP:0040282	ORPHA:199343
3766	KCNJ10	HP:0000750	Delayed speech and language development	-	OMIM:612780
3766	KCNJ10	HP:0003127	Hypocalciuria	-	OMIM:612780
3766	KCNJ10	HP:0000859	Increased circulating aldosterone concentration	-	OMIM:612780
3766	KCNJ10	HP:0000859	Increased circulating aldosterone concentration	HP:0040281	ORPHA:199343
3766	KCNJ10	HP:0000853	Goiter	HP:0040282	ORPHA:705
3766	KCNJ10	HP:0000853	Goiter	0/10	OMIM:600791
3766	KCNJ10	HP:0000853	Goiter	14/15	OMIM:274600
3766	KCNJ10	HP:0000848	Increased circulating renin concentration	-	OMIM:612780
3766	KCNJ10	HP:0000848	Increased circulating renin concentration	HP:0040281	ORPHA:199343
3766	KCNJ10	HP:0000843	Hyperparathyroidism	HP:0040283	ORPHA:705
3766	KCNJ10	HP:0000822	Hypertension	0/5	OMIM:612780
3766	KCNJ10	HP:0000821	Hypothyroidism	HP:0040282	ORPHA:705
3766	KCNJ10	HP:0030083	Salt craving	HP:0040281	ORPHA:199343
3766	KCNJ10	HP:0030083	Salt craving	-	OMIM:612780
3766	KCNJ10	HP:0002890	Thyroid carcinoma	HP:0040283	ORPHA:705
3766	KCNJ10	HP:0002890	Thyroid carcinoma	-	OMIM:274600
3766	KCNJ10	HP:0002917	Hypomagnesemia	5/5	OMIM:612780
3766	KCNJ10	HP:0002917	Hypomagnesemia	HP:0040281	ORPHA:199343
3766	KCNJ10	HP:0002900	Hypokalemia	HP:0040281	ORPHA:199343
3766	KCNJ10	HP:0002900	Hypokalemia	5/5	OMIM:612780
3766	KCNJ10	HP:0000359	Abnormality of the inner ear	HP:0040281	ORPHA:705
3766	KCNJ10	HP:0000376	Incomplete partition of the cochlea type II	0/3	OMIM:600791
3766	KCNJ10	HP:0011157	Focal sensory seizure	HP:0040282	ORPHA:98809
3766	KCNJ10	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:199343
3766	KCNJ10	HP:0000407	Sensorineural hearing impairment	10/10	OMIM:600791
3766	KCNJ10	HP:0000407	Sensorineural hearing impairment	5/5	OMIM:612780
3766	KCNJ10	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:705
3766	KCNJ10	HP:0001751	Abnormal vestibular function	-	OMIM:274600
3766	KCNJ10	HP:0012591	Abnormal urinary electrolyte concentration	HP:0040281	ORPHA:199343
3767	KCNJ11	HP:0010935	Abnormality of the upper urinary tract	HP:0040283	ORPHA:99885
3767	KCNJ11	HP:0009894	Thickened ears	HP:0040283	ORPHA:79134
3767	KCNJ11	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:99885
3767	KCNJ11	HP:0001270	Motor delay	HP:0040282	ORPHA:99885
3767	KCNJ11	HP:0001279	Syncope	HP:0040283	ORPHA:276580
3767	KCNJ11	HP:0001254	Lethargy	HP:0040283	ORPHA:276580
3767	KCNJ11	HP:0001250	Seizure	HP:0040283	ORPHA:99886
3767	KCNJ11	HP:0001250	Seizure	HP:0040283	ORPHA:79644
3767	KCNJ11	HP:0001250	Seizure	HP:0040282	ORPHA:79134
3767	KCNJ11	HP:0001252	Hypotonia	HP:0040283	ORPHA:99885
3767	KCNJ11	HP:0001252	Hypotonia	HP:0040283	ORPHA:99886
3767	KCNJ11	HP:0001251	Ataxia	HP:0040283	ORPHA:99885
3767	KCNJ11	HP:0001249	Intellectual disability	HP:0040282	ORPHA:99885
3767	KCNJ11	HP:0001249	Intellectual disability	HP:0040283	ORPHA:79644
3767	KCNJ11	HP:0002594	Pancreatic hypoplasia	HP:0040284	ORPHA:552
3767	KCNJ11	HP:0002594	Pancreatic hypoplasia	HP:0040283	ORPHA:99885
3767	KCNJ11	HP:0002591	Polyphagia	HP:0040283	ORPHA:276580
3767	KCNJ11	HP:0001263	Global developmental delay	HP:0040282	ORPHA:99885
3767	KCNJ11	HP:0001263	Global developmental delay	4/13	OMIM:618856
3767	KCNJ11	HP:0001259	Coma	HP:0040283	ORPHA:99885
3767	KCNJ11	HP:0031084	Excessive insulin response to glucagon test	HP:0040281	ORPHA:276580
3767	KCNJ11	HP:0031080	Abnormal response to glucagon stimulation test	HP:0040281	ORPHA:79644
3767	KCNJ11	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/13	OMIM:618856
3767	KCNJ11	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:79134
3767	KCNJ11	HP:0002521	Hypsarrhythmia	1/4	OMIM:618856
3767	KCNJ11	HP:0000077	Abnormality of the kidney	HP:0040284	ORPHA:552
3767	KCNJ11	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:99886
3767	KCNJ11	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:99886
3767	KCNJ11	HP:0001371	Flexion contracture	3/13	OMIM:618856
3767	KCNJ11	HP:0012028	Hepatocellular adenoma	HP:0040284	ORPHA:552
3767	KCNJ11	HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	1/4	OMIM:610582
3767	KCNJ11	HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	1/4	OMIM:616329
3767	KCNJ11	HP:0001324	Muscle weakness	HP:0040282	ORPHA:79134
3767	KCNJ11	HP:0001324	Muscle weakness	HP:0040283	ORPHA:276580
3767	KCNJ11	HP:0001325	Hypoglycemic coma	HP:0040283	ORPHA:276580
3767	KCNJ11	HP:0000007	Autosomal recessive inheritance	-	OMIM:601820
3767	KCNJ11	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
3767	KCNJ11	HP:0000006	Autosomal dominant inheritance	-	OMIM:616329
3767	KCNJ11	HP:0000006	Autosomal dominant inheritance	-	OMIM:618856
3767	KCNJ11	HP:0000006	Autosomal dominant inheritance	-	OMIM:610582
3767	KCNJ11	HP:0000158	Macroglossia	HP:0040282	ORPHA:99886
3767	KCNJ11	HP:0001488	Bilateral ptosis	HP:0040283	ORPHA:79134
3767	KCNJ11	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:99885
3767	KCNJ11	HP:0001488	Bilateral ptosis	3/13	OMIM:618856
3767	KCNJ11	HP:0008947	Floppy infant	HP:0040283	ORPHA:79644
3767	KCNJ11	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:79134
3767	KCNJ11	HP:0006274	Reduced pancreatic beta cells	HP:0040281	ORPHA:99885
3767	KCNJ11	HP:0000119	Abnormality of the genitourinary system	HP:0040284	ORPHA:552
3767	KCNJ11	HP:0000124	Renal tubular dysfunction	HP:0040283	ORPHA:99885
3767	KCNJ11	HP:0000112	Nephropathy	HP:0040283	ORPHA:552
3767	KCNJ11	HP:0000107	Renal cyst	HP:0040284	ORPHA:552
3767	KCNJ11	HP:0031223	Focal pancreatic islet hyperplasia	HP:0040282	ORPHA:79644
3767	KCNJ11	HP:0031224	Diffuse pancreatic islet hyperplasia	HP:0040282	ORPHA:276580
3767	KCNJ11	HP:0031224	Diffuse pancreatic islet hyperplasia	HP:0040282	ORPHA:79644
3767	KCNJ11	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:79134
3767	KCNJ11	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:99885
3767	KCNJ11	HP:0002714	Downturned corners of mouth	3/13	OMIM:618856
3767	KCNJ11	HP:0002013	Vomiting	HP:0040283	ORPHA:79134
3767	KCNJ11	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
3767	KCNJ11	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:99885
3767	KCNJ11	HP:0002069	Bilateral tonic-clonic seizure	1/13	OMIM:618856
3767	KCNJ11	HP:0008194	Multiple pancreatic beta-cell adenomas	HP:0040283	ORPHA:79644
3767	KCNJ11	HP:0040299	Decreased circulating free fatty acid level	HP:0040282	ORPHA:79644
3767	KCNJ11	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:99885
3767	KCNJ11	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:99885
3767	KCNJ11	HP:0002133	Status epilepticus	HP:0040283	ORPHA:276580
3767	KCNJ11	HP:0002104	Apnea	HP:0040283	ORPHA:79644
3767	KCNJ11	HP:0002186	Apraxia	HP:0040283	ORPHA:99885
3767	KCNJ11	HP:0002173	Hypoglycemic seizures	HP:0040282	ORPHA:276580
3767	KCNJ11	HP:0008255	Transient neonatal diabetes mellitus	HP:0040283	ORPHA:552
3767	KCNJ11	HP:0008255	Transient neonatal diabetes mellitus	1/4	OMIM:610582
3767	KCNJ11	HP:0008255	Transient neonatal diabetes mellitus	HP:0040282	ORPHA:99886
3767	KCNJ11	HP:0003593	Infantile onset	1/4	OMIM:616329
3767	KCNJ11	HP:0003593	Infantile onset	1/4	OMIM:610582
3767	KCNJ11	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:276580
3767	KCNJ11	HP:0003584	Late onset	-	OMIM:125853
3767	KCNJ11	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:79644
3767	KCNJ11	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:276580
3767	KCNJ11	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:276580
3767	KCNJ11	HP:0002329	Drowsiness	HP:0040282	ORPHA:276580
3767	KCNJ11	HP:0100651	Type I diabetes mellitus	HP:0040284	ORPHA:276580
3767	KCNJ11	HP:0100651	Type I diabetes mellitus	-	OMIM:618856
3767	KCNJ11	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:79134
3767	KCNJ11	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:276580
3767	KCNJ11	HP:0009800	Maternal diabetes	1/2	OMIM:610582
3767	KCNJ11	HP:0009800	Maternal diabetes	1/4	OMIM:616329
3767	KCNJ11	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:99886
3767	KCNJ11	HP:0003623	Neonatal onset	HP:0040283	OMIM:610582
3767	KCNJ11	HP:0003623	Neonatal onset	1/1	OMIM:601820
3767	KCNJ11	HP:0004924	Abnormal oral glucose tolerance	HP:0040282	ORPHA:552
3767	KCNJ11	HP:0004924	Abnormal oral glucose tolerance	HP:0040282	ORPHA:276580
3767	KCNJ11	HP:0007185	Loss of consciousness	HP:0040283	ORPHA:276580
3767	KCNJ11	HP:0004904	Maturity-onset diabetes of the young	4/4	OMIM:616329
3767	KCNJ11	HP:0004904	Maturity-onset diabetes of the young	HP:0040282	ORPHA:99886
3767	KCNJ11	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
3767	KCNJ11	HP:0001962	Palpitations	HP:0040282	ORPHA:276580
3767	KCNJ11	HP:0001944	Dehydration	HP:0040283	ORPHA:79134
3767	KCNJ11	HP:0001944	Dehydration	HP:0040281	ORPHA:99885
3767	KCNJ11	HP:0001944	Dehydration	HP:0040281	ORPHA:99886
3767	KCNJ11	HP:0001943	Hypoglycemia	-	OMIM:601820
3767	KCNJ11	HP:0001953	Diabetic ketoacidosis	-	ORPHA:552
3767	KCNJ11	HP:0001953	Diabetic ketoacidosis	HP:0040284	ORPHA:99886
3767	KCNJ11	HP:0001952	Glucose intolerance	HP:0040282	ORPHA:552
3767	KCNJ11	HP:0011342	Mild global developmental delay	HP:0040282	ORPHA:79134
3767	KCNJ11	HP:0001993	Ketoacidosis	-	OMIM:618856
3767	KCNJ11	HP:0001988	Recurrent hypoglycemia	HP:0040281	ORPHA:79644
3767	KCNJ11	HP:0001985	Hypoketotic hypoglycemia	HP:0040281	ORPHA:276580
3767	KCNJ11	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:552
3767	KCNJ11	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:79644
3767	KCNJ11	HP:0003076	Glycosuria	HP:0040282	ORPHA:552
3767	KCNJ11	HP:0003076	Glycosuria	HP:0040281	ORPHA:99885
3767	KCNJ11	HP:0003074	Hyperglycemia	HP:0040282	ORPHA:552
3767	KCNJ11	HP:0003074	Hyperglycemia	4/4	OMIM:610582
3767	KCNJ11	HP:0003074	Hyperglycemia	1/4	OMIM:616329
3767	KCNJ11	HP:0003074	Hyperglycemia	HP:0040280	ORPHA:79134
3767	KCNJ11	HP:0003074	Hyperglycemia	HP:0040281	ORPHA:99885
3767	KCNJ11	HP:0003074	Hyperglycemia	HP:0040281	ORPHA:99886
3767	KCNJ11	HP:0003074	Hyperglycemia	-	OMIM:618856
3767	KCNJ11	HP:0000713	Agitation	HP:0040282	ORPHA:276580
3767	KCNJ11	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:99886
3767	KCNJ11	HP:0000707	Abnormality of the nervous system	HP:0040281	ORPHA:79644
3767	KCNJ11	HP:0011463	Childhood onset	1/4	OMIM:616329
3767	KCNJ11	HP:0011463	Childhood onset	1/4	OMIM:610582
3767	KCNJ11	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:99885
3767	KCNJ11	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:99886
3767	KCNJ11	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:79644
3767	KCNJ11	HP:0012759	Neurodevelopmental abnormality	HP:0040282	ORPHA:276580
3767	KCNJ11	HP:0003118	Increased circulating cortisol level	HP:0040283	ORPHA:79644
3767	KCNJ11	HP:0005750	Lower-limb joint contracture	HP:0040282	ORPHA:99885
3767	KCNJ11	HP:0030796	Increased C-peptide level	HP:0040281	ORPHA:276580
3767	KCNJ11	HP:0030796	Increased C-peptide level	HP:0040281	ORPHA:79644
3767	KCNJ11	HP:0030795	Reduced C-peptide level	4/4	OMIM:610582
3767	KCNJ11	HP:0030795	Reduced C-peptide level	1/4	OMIM:616329
3767	KCNJ11	HP:0030795	Reduced C-peptide level	-	OMIM:618856
3767	KCNJ11	HP:0030794	Abnormal circulating C-peptide concentration	HP:0040282	ORPHA:552
3767	KCNJ11	HP:0003196	Short nose	HP:0040283	ORPHA:79134
3767	KCNJ11	HP:0003162	Fasting hypoglycemia	HP:0040281	ORPHA:276580
3767	KCNJ11	HP:0000855	Insulin resistance	-	OMIM:125853
3767	KCNJ11	HP:0000857	Neonatal insulin-dependent diabetes mellitus	HP:0040281	ORPHA:99885
3767	KCNJ11	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040283	ORPHA:552
3767	KCNJ11	HP:0000845	Elevated circulating growth hormone concentration	HP:0040282	ORPHA:79644
3767	KCNJ11	HP:0000842	Hyperinsulinemia	HP:0040281	ORPHA:276580
3767	KCNJ11	HP:0000819	Diabetes mellitus	1/4	OMIM:616329
3767	KCNJ11	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040283	ORPHA:552
3767	KCNJ11	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040281	ORPHA:276580
3767	KCNJ11	HP:0000825	Hyperinsulinemic hypoglycemia	1/1	OMIM:601820
3767	KCNJ11	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040280	ORPHA:79644
3767	KCNJ11	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:99886
3767	KCNJ11	HP:0040025	Clinodactyly of the 4th finger	HP:0040283	ORPHA:79134
3767	KCNJ11	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:99886
3767	KCNJ11	HP:0040214	Abnormal circulating insulin concentration	HP:0040282	ORPHA:552
3767	KCNJ11	HP:0040217	Elevated hemoglobin A1c	HP:0040282	ORPHA:552
3767	KCNJ11	HP:0040217	Elevated hemoglobin A1c	4/4	OMIM:610582
3767	KCNJ11	HP:0040217	Elevated hemoglobin A1c	3/4	OMIM:616329
3767	KCNJ11	HP:0040217	Elevated hemoglobin A1c	HP:0040281	ORPHA:79134
3767	KCNJ11	HP:0040216	Hypoinsulinemia	HP:0040282	ORPHA:552
3767	KCNJ11	HP:0040216	Hypoinsulinemia	HP:0040281	ORPHA:99886
3767	KCNJ11	HP:0004510	Pancreatic islet-cell hyperplasia	-	OMIM:601820
3767	KCNJ11	HP:0045081	Abnormality of body mass index	0/4	OMIM:616329
3767	KCNJ11	HP:0000980	Pallor	HP:0040282	ORPHA:276580
3767	KCNJ11	HP:0000956	Acanthosis nigricans	-	ORPHA:552
3767	KCNJ11	HP:0034346	Nesidioblastosis	1/1	OMIM:601820
3767	KCNJ11	HP:0030057	Autoimmune antibody positivity	-	ORPHA:552
3767	KCNJ11	HP:0030057	Autoimmune antibody positivity	-	ORPHA:79134
3767	KCNJ11	HP:0030057	Autoimmune antibody positivity	-	ORPHA:99885
3767	KCNJ11	HP:0030057	Autoimmune antibody positivity	-	ORPHA:99886
3767	KCNJ11	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:99885
3767	KCNJ11	HP:0025502	Overweight	HP:0040283	ORPHA:552
3767	KCNJ11	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:99886
3767	KCNJ11	HP:0001508	Failure to thrive	HP:0040281	ORPHA:99885
3767	KCNJ11	HP:0001508	Failure to thrive	HP:0040283	ORPHA:99886
3767	KCNJ11	HP:0001520	Large for gestational age	HP:0040283	ORPHA:552
3767	KCNJ11	HP:0001520	Large for gestational age	-	OMIM:601820
3767	KCNJ11	HP:0001520	Large for gestational age	HP:0040282	ORPHA:276580
3767	KCNJ11	HP:0001520	Large for gestational age	HP:0040282	ORPHA:79644
3767	KCNJ11	HP:0001518	Small for gestational age	HP:0040281	ORPHA:99886
3767	KCNJ11	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:552
3767	KCNJ11	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:99885
3767	KCNJ11	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:99886
3767	KCNJ11	HP:0001513	Obesity	HP:0040284	ORPHA:552
3767	KCNJ11	HP:0002919	Ketonuria	-	ORPHA:79644
3767	KCNJ11	HP:0002919	Ketonuria	HP:0040282	ORPHA:99885
3767	KCNJ11	HP:0000365	Hearing impairment	HP:0040283	ORPHA:99885
3767	KCNJ11	HP:0000365	Hearing impairment	HP:0040283	ORPHA:99886
3767	KCNJ11	HP:0000343	Long philtrum	HP:0040283	ORPHA:79134
3767	KCNJ11	HP:0032794	Myoclonic seizure	1/13	OMIM:618856
3767	KCNJ11	HP:0001649	Tachycardia	HP:0040282	ORPHA:276580
3767	KCNJ11	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:99885
3767	KCNJ11	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:99886
3767	KCNJ11	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:276580
3767	KCNJ11	HP:0001738	Exocrine pancreatic insufficiency	HP:0040284	ORPHA:552
3767	KCNJ11	HP:0000488	Retinopathy	HP:0040283	ORPHA:552
3767	KCNJ11	HP:0000488	Retinopathy	HP:0040282	ORPHA:99885
3767	KCNJ11	HP:0000463	Anteverted nares	HP:0040283	ORPHA:79134
3767	KCNJ11	HP:0011106	Hypovolemia	HP:0040281	ORPHA:99885
3767	KCNJ11	HP:0025710	Late young adult onset	1/4	OMIM:616329
3767	KCNJ11	HP:0025709	Intermediate young adult onset	2/4	OMIM:610582
3767	KCNJ11	HP:0025709	Intermediate young adult onset	1/4	OMIM:616329
3767	KCNJ11	HP:0005487	Prominent metopic ridge	HP:0040283	ORPHA:79134
3767	KCNJ11	HP:0005487	Prominent metopic ridge	HP:0040282	ORPHA:99885
3767	KCNJ11	HP:0005487	Prominent metopic ridge	1/13	OMIM:618856
3767	KCNJ11	HP:0001824	Weight loss	HP:0040281	ORPHA:99885
3767	KCNJ11	HP:0012594	Moderate albuminuria	HP:0040282	ORPHA:99885
3769	KCNJ13	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
3769	KCNJ13	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
3769	KCNJ13	HP:0001123	Visual field defect	1/3	OMIM:614186
3769	KCNJ13	HP:0001123	Visual field defect	-	OMIM:143200
3769	KCNJ13	HP:0001270	Motor delay	HP:0040283	ORPHA:65
3769	KCNJ13	HP:0001270	Motor delay	-	OMIM:156550
3769	KCNJ13	HP:0001288	Gait disturbance	-	OMIM:156550
3769	KCNJ13	HP:0001250	Seizure	HP:0040282	ORPHA:65
3769	KCNJ13	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
3769	KCNJ13	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
3769	KCNJ13	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
3769	KCNJ13	HP:0006095	Wide tufts of distal phalanges	-	OMIM:154780
3769	KCNJ13	HP:0012038	Corneal guttata	4/5	OMIM:193230
3769	KCNJ13	HP:0001376	Limitation of joint mobility	-	OMIM:156550
3769	KCNJ13	HP:0012019	Lens luxation	-	OMIM:154780
3769	KCNJ13	HP:0000023	Inguinal hernia	-	OMIM:156550
3769	KCNJ13	HP:0002684	Thickened calvaria	-	OMIM:154780
3769	KCNJ13	HP:0002688	Absent frontal sinuses	-	OMIM:154780
3769	KCNJ13	HP:0008839	Hypoplastic pelvis	-	OMIM:156550
3769	KCNJ13	HP:0006172	Flattened, squared-off epiphyses of tubular bones	-	OMIM:156550
3769	KCNJ13	HP:0002663	Delayed epiphyseal ossification	-	OMIM:156550
3769	KCNJ13	HP:0002656	Epiphyseal dysplasia	-	OMIM:184840
3769	KCNJ13	HP:0002673	Coxa valga	-	OMIM:154780
3769	KCNJ13	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
3769	KCNJ13	HP:0000007	Autosomal recessive inheritance	-	OMIM:614186
3769	KCNJ13	HP:0000006	Autosomal dominant inheritance	-	OMIM:193230
3769	KCNJ13	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
3769	KCNJ13	HP:0000006	Autosomal dominant inheritance	-	OMIM:154780
3769	KCNJ13	HP:0000006	Autosomal dominant inheritance	-	OMIM:156550
3769	KCNJ13	HP:0000006	Autosomal dominant inheritance	-	OMIM:143200
3769	KCNJ13	HP:0000006	Autosomal dominant inheritance	-	OMIM:184840
3769	KCNJ13	HP:0008905	Rhizomelia	1/1	OMIM:156550
3769	KCNJ13	HP:0000179	Thick lower lip vermilion	-	OMIM:154780
3769	KCNJ13	HP:0000193	Bifid uvula	4/9	OMIM:154780
3769	KCNJ13	HP:0000175	Cleft palate	-	OMIM:184840
3769	KCNJ13	HP:0000175	Cleft palate	1/1	OMIM:156550
3769	KCNJ13	HP:0000175	Cleft palate	4/9	OMIM:154780
3769	KCNJ13	HP:0001483	Eye poking	HP:0040282	ORPHA:65
3769	KCNJ13	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
3769	KCNJ13	HP:0007663	Reduced visual acuity	3/3	OMIM:614186
3769	KCNJ13	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
3769	KCNJ13	HP:0007643	Peripheral tractional retinal detachment	-	OMIM:143200
3769	KCNJ13	HP:0002779	Tracheomalacia	-	OMIM:156550
3769	KCNJ13	HP:0004619	Lumbar kyphoscoliosis	-	OMIM:156550
3769	KCNJ13	HP:0011800	Midface retrusion	-	OMIM:184840
3769	KCNJ13	HP:0011800	Midface retrusion	-	OMIM:156550
3769	KCNJ13	HP:0011800	Midface retrusion	9/9	OMIM:154780
3769	KCNJ13	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
3769	KCNJ13	HP:0002098	Respiratory distress	-	OMIM:156550
3769	KCNJ13	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:156550
3769	KCNJ13	HP:0008271	Abnormal cartilage collagen	-	OMIM:156550
3769	KCNJ13	HP:0010580	Enlarged epiphyses	-	OMIM:184840
3769	KCNJ13	HP:0003593	Infantile onset	1/3	OMIM:614186
3769	KCNJ13	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
3769	KCNJ13	HP:0003577	Congenital onset	1/1	OMIM:156550
3769	KCNJ13	HP:0032027	Retinal dots	-	OMIM:193230
3769	KCNJ13	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:156550
3769	KCNJ13	HP:0200003	Splayed epiphyses	-	OMIM:156550
3769	KCNJ13	HP:0003623	Neonatal onset	2/3	OMIM:614186
3769	KCNJ13	HP:0003621	Juvenile onset	8/19	OMIM:180100
3769	KCNJ13	HP:0004209	Clinodactyly of the 5th finger	2/9	OMIM:154780
3769	KCNJ13	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
3769	KCNJ13	HP:0000639	Nystagmus	3/3	OMIM:614186
3769	KCNJ13	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
3769	KCNJ13	HP:0000648	Optic atrophy	-	OMIM:143200
3769	KCNJ13	HP:0000613	Photophobia	HP:0040282	ORPHA:65
3769	KCNJ13	HP:0000613	Photophobia	-	OMIM:614186
3769	KCNJ13	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
3769	KCNJ13	HP:0030490	Exudative vitreoretinopathy	HP:0040283	OMIM:143200
3769	KCNJ13	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:154780
3769	KCNJ13	HP:0000662	Nyctalopia	2/3	OMIM:614186
3769	KCNJ13	HP:0000662	Nyctalopia	26/28	OMIM:180100
3769	KCNJ13	HP:0004322	Short stature	-	OMIM:154780
3769	KCNJ13	HP:0030663	Optically empty vitreous	HP:0040283	OMIM:193230
3769	KCNJ13	HP:0030663	Optically empty vitreous	-	OMIM:143200
3769	KCNJ13	HP:0003088	Premature osteoarthritis	-	OMIM:184840
3769	KCNJ13	HP:0003037	Enlarged joints	-	OMIM:156550
3769	KCNJ13	HP:0003031	Ulnar bowing	-	OMIM:154780
3769	KCNJ13	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
3769	KCNJ13	HP:0003015	Flared metaphysis	-	OMIM:156550
3769	KCNJ13	HP:0000767	Pectus excavatum	1/1	OMIM:156550
3769	KCNJ13	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
3769	KCNJ13	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
3769	KCNJ13	HP:0011463	Childhood onset	3/19	OMIM:180100
3769	KCNJ13	HP:0011462	Young adult onset	8/19	OMIM:180100
3769	KCNJ13	HP:0003196	Short nose	9/9	OMIM:154780
3769	KCNJ13	HP:0000926	Platyspondyly	1/9	OMIM:154780
3769	KCNJ13	HP:0000926	Platyspondyly	-	OMIM:184840
3769	KCNJ13	HP:0000926	Platyspondyly	1/1	OMIM:156550
3769	KCNJ13	HP:0011533	Snowflake vitreoretinal degeneration	4/6	OMIM:193230
3769	KCNJ13	HP:0040025	Clinodactyly of the 4th finger	2/9	OMIM:154780
3769	KCNJ13	HP:0003273	Hip contracture	-	OMIM:156550
3769	KCNJ13	HP:0100250	Meningeal calcification	-	OMIM:154780
3769	KCNJ13	HP:0000947	Dumbbell-shaped long bone	-	OMIM:156550
3769	KCNJ13	HP:0000946	Hypoplastic ilia	-	OMIM:154780
3769	KCNJ13	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:143200
3769	KCNJ13	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
3769	KCNJ13	HP:0012283	Small distal femoral epiphysis	-	OMIM:154780
3769	KCNJ13	HP:0012284	Small proximal tibial epiphyses	-	OMIM:154780
3769	KCNJ13	HP:0000286	Epicanthus	-	OMIM:154780
3769	KCNJ13	HP:0000272	Malar flattening	-	OMIM:154780
3769	KCNJ13	HP:0000272	Malar flattening	27/28	OMIM:184840
3769	KCNJ13	HP:0000272	Malar flattening	1/1	OMIM:156550
3769	KCNJ13	HP:0006456	Irregular proximal tibial epiphyses	-	OMIM:154780
3769	KCNJ13	HP:0007773	Vitreoretinopathy	-	OMIM:154780
3769	KCNJ13	HP:0007773	Vitreoretinopathy	-	OMIM:143200
3769	KCNJ13	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
3769	KCNJ13	HP:0006407	Irregular distal femoral epiphysis	-	OMIM:154780
3769	KCNJ13	HP:0002812	Coxa vara	-	OMIM:156550
3769	KCNJ13	HP:0002829	Arthralgia	20/20	OMIM:184840
3769	KCNJ13	HP:0002827	Hip dislocation	-	OMIM:156550
3769	KCNJ13	HP:0005086	Knee osteoarthritis	-	OMIM:154780
3769	KCNJ13	HP:0006375	Dumbbell-shaped femur	1/1	OMIM:156550
3769	KCNJ13	HP:0006361	Irregular femoral epiphysis	-	OMIM:154780
3769	KCNJ13	HP:0000215	Thick upper lip vermilion	-	OMIM:154780
3769	KCNJ13	HP:0001537	Umbilical hernia	-	OMIM:156550
3769	KCNJ13	HP:0000201	Pierre-Robin sequence	4/9	OMIM:154780
3769	KCNJ13	HP:0000201	Pierre-Robin sequence	-	OMIM:184840
3769	KCNJ13	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
3769	KCNJ13	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
3769	KCNJ13	HP:0000369	Low-set ears	-	OMIM:154780
3769	KCNJ13	HP:0000343	Long philtrum	-	OMIM:154780
3769	KCNJ13	HP:0000347	Micrognathia	-	OMIM:154780
3769	KCNJ13	HP:0002982	Tibial bowing	1/1	OMIM:156550
3769	KCNJ13	HP:0000316	Hypertelorism	-	OMIM:154780
3769	KCNJ13	HP:0000311	Round face	-	OMIM:156550
3769	KCNJ13	HP:0002986	Radial bowing	-	OMIM:154780
3769	KCNJ13	HP:0002970	Genu varum	1/1	OMIM:156550
3769	KCNJ13	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:154780
3769	KCNJ13	HP:0000407	Sensorineural hearing impairment	16/28	OMIM:184840
3769	KCNJ13	HP:0000403	Recurrent otitis media	4/9	OMIM:154780
3769	KCNJ13	HP:0000403	Recurrent otitis media	-	OMIM:156550
3769	KCNJ13	HP:0000405	Conductive hearing impairment	-	OMIM:156550
3769	KCNJ13	HP:0005280	Depressed nasal bridge	27/28	OMIM:184840
3769	KCNJ13	HP:0005280	Depressed nasal bridge	-	OMIM:156550
3769	KCNJ13	HP:0005280	Depressed nasal bridge	9/9	OMIM:154780
3769	KCNJ13	HP:0000486	Strabismus	1/3	OMIM:614186
3769	KCNJ13	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
3769	KCNJ13	HP:0000478	Abnormality of the eye	0/3	OMIM:184840
3769	KCNJ13	HP:0000463	Anteverted nares	27/28	OMIM:184840
3769	KCNJ13	HP:0000463	Anteverted nares	-	OMIM:154780
3769	KCNJ13	HP:0000470	Short neck	-	OMIM:156550
3769	KCNJ13	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
3769	KCNJ13	HP:0025707	Hypoplastic fetal nasal bone	-	OMIM:154780
3769	KCNJ13	HP:0005462	Calcification of falx cerebri	-	OMIM:154780
3769	KCNJ13	HP:0000518	Cataract	3/3	OMIM:614186
3769	KCNJ13	HP:0000518	Cataract	-	OMIM:156550
3769	KCNJ13	HP:0000518	Cataract	-	OMIM:143200
3769	KCNJ13	HP:0000518	Cataract	9/9	OMIM:154780
3769	KCNJ13	HP:0000518	Cataract	HP:0040282	ORPHA:65
3769	KCNJ13	HP:0000518	Cataract	5/6	OMIM:193230
3769	KCNJ13	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
3769	KCNJ13	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
3769	KCNJ13	HP:0000520	Proptosis	-	OMIM:156550
3769	KCNJ13	HP:0000505	Visual impairment	-	OMIM:614186
3769	KCNJ13	HP:0000501	Glaucoma	-	OMIM:154780
3769	KCNJ13	HP:0000501	Glaucoma	-	OMIM:143200
3769	KCNJ13	HP:0000575	Scotoma	5/18	OMIM:180100
3769	KCNJ13	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
3769	KCNJ13	HP:0000572	Visual loss	-	OMIM:143200
3769	KCNJ13	HP:0000565	Esotropia	-	OMIM:154780
3769	KCNJ13	HP:0000541	Retinal detachment	-	OMIM:154780
3769	KCNJ13	HP:0000541	Retinal detachment	-	OMIM:156550
3769	KCNJ13	HP:0000541	Retinal detachment	3/14	OMIM:193230
3769	KCNJ13	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
3769	KCNJ13	HP:0000533	Chorioretinal atrophy	-	OMIM:143200
3769	KCNJ13	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
3769	KCNJ13	HP:0000543	Optic disc pallor	-	OMIM:614186
3769	KCNJ13	HP:0000543	Optic disc pallor	1/1	OMIM:180100
3769	KCNJ13	HP:0000545	Myopia	-	OMIM:180100
3769	KCNJ13	HP:0000545	Myopia	1/1	OMIM:156550
3769	KCNJ13	HP:0000545	Myopia	-	OMIM:143200
3769	KCNJ13	HP:0000545	Myopia	9/9	OMIM:154780
3773	KCNJ16	HP:0001250	Seizure	0/8	OMIM:619406
3773	KCNJ16	HP:0001251	Ataxia	0/8	OMIM:619406
3773	KCNJ16	HP:0000007	Autosomal recessive inheritance	-	OMIM:619406
3773	KCNJ16	HP:0000127	Renal salt wasting	6/8	OMIM:619406
3773	KCNJ16	HP:0001941	Acidosis	7/8	OMIM:619406
3773	KCNJ16	HP:0000859	Increased circulating aldosterone concentration	5/7	OMIM:619406
3773	KCNJ16	HP:0000848	Increased circulating renin concentration	7/7	OMIM:619406
3773	KCNJ16	HP:0000407	Sensorineural hearing impairment	8/8	OMIM:619406
3777	KCNK3	HP:0000006	Autosomal dominant inheritance	-	OMIM:615344
3777	KCNK3	HP:0002092	Pulmonary arterial hypertension	7/9	OMIM:615344
3777	KCNK3	HP:0011712	Complete right bundle branch block	2/9	OMIM:615344
3777	KCNK3	HP:0011705	First degree atrioventricular block	1/9	OMIM:615344
3777	KCNK3	HP:0004749	Atrial flutter	1/9	OMIM:615344
3777	KCNK3	HP:0003596	Middle age onset	1/7	OMIM:615344
3777	KCNK3	HP:0004890	Elevated pulmonary artery pressure	7/9	OMIM:615344
3777	KCNK3	HP:0003676	Progressive	-	OMIM:615344
3777	KCNK3	HP:0003621	Juvenile onset	1/7	OMIM:615344
3777	KCNK3	HP:0033424	Pulmonary arterial hypertension with lack of acute response to NO challenge	5/5	OMIM:615344
3777	KCNK3	HP:0001907	Thromboembolism	0/9	OMIM:615344
3777	KCNK3	HP:0011462	Young adult onset	5/7	OMIM:615344
3777	KCNK3	HP:0005317	Increased pulmonary vascular resistance	-	OMIM:615344
3778	KCNMA1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2/13	OMIM:609446
3778	KCNMA1	HP:0007270	Atypical absence seizure	1/2	OMIM:618596
3778	KCNMA1	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:79137
3778	KCNMA1	HP:0001290	Generalized hypotonia	2/2	OMIM:617643
3778	KCNMA1	HP:0001272	Cerebellar atrophy	3/9	OMIM:618729
3778	KCNMA1	HP:0001272	Cerebellar atrophy	2/2	OMIM:617643
3778	KCNMA1	HP:0001250	Seizure	0/2	OMIM:609446
3778	KCNMA1	HP:0001252	Hypotonia	1/2	OMIM:609446
3778	KCNMA1	HP:0001251	Ataxia	3/9	OMIM:618729
3778	KCNMA1	HP:0001263	Global developmental delay	2/2	OMIM:609446
3778	KCNMA1	HP:0001263	Global developmental delay	2/2	OMIM:618596
3778	KCNMA1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:79137
3778	KCNMA1	HP:0001263	Global developmental delay	2/2	OMIM:617643
3778	KCNMA1	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/2	OMIM:617643
3778	KCNMA1	HP:0002500	Abnormal cerebral white matter morphology	1/2	OMIM:618596
3778	KCNMA1	HP:0001348	Brisk reflexes	2/2	OMIM:609446
3778	KCNMA1	HP:0001332	Dystonia	1/8	OMIM:618729
3778	KCNMA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617643
3778	KCNMA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:609446
3778	KCNMA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618729
3778	KCNMA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618596
3778	KCNMA1	HP:0000158	Macroglossia	3/9	OMIM:618729
3778	KCNMA1	HP:0000154	Wide mouth	2/5	OMIM:618729
3778	KCNMA1	HP:0008936	Axial hypotonia	5/8	OMIM:618729
3778	KCNMA1	HP:0002714	Downturned corners of mouth	4/9	OMIM:618729
3778	KCNMA1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:79137
3778	KCNMA1	HP:0002072	Chorea	HP:0040283	ORPHA:79137
3778	KCNMA1	HP:0002059	Cerebral atrophy	2/9	OMIM:618729
3778	KCNMA1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:79137
3778	KCNMA1	HP:0002121	Generalized non-motor (absence) seizure	6/13	OMIM:609446
3778	KCNMA1	HP:0002121	Generalized non-motor (absence) seizure	2/9	OMIM:618729
3778	KCNMA1	HP:0002133	Status epilepticus	1/9	OMIM:618729
3778	KCNMA1	HP:0002197	Generalized-onset seizure	HP:0040282	ORPHA:79137
3778	KCNMA1	HP:0003593	Infantile onset	2/15	OMIM:609446
3778	KCNMA1	HP:0003593	Infantile onset	-	OMIM:618729
3778	KCNMA1	HP:0003593	Infantile onset	2/2	OMIM:617643
3778	KCNMA1	HP:0002353	EEG abnormality	1/1	OMIM:617643
3778	KCNMA1	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	3/13	OMIM:609446
3778	KCNMA1	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	HP:0040282	ORPHA:79137
3778	KCNMA1	HP:0010841	Multifocal epileptiform discharges	1/2	OMIM:618596
3778	KCNMA1	HP:0007166	Paroxysmal dyskinesia	0/2	OMIM:618596
3778	KCNMA1	HP:0007166	Paroxysmal dyskinesia	14/15	OMIM:609446
3778	KCNMA1	HP:0007166	Paroxysmal dyskinesia	HP:0040282	ORPHA:79137
3778	KCNMA1	HP:0003623	Neonatal onset	1/2	OMIM:609446
3778	KCNMA1	HP:0003621	Juvenile onset	5/13	OMIM:609446
3778	KCNMA1	HP:0006889	Intellectual disability, borderline	HP:0040283	ORPHA:79137
3778	KCNMA1	HP:0000639	Nystagmus	HP:0040283	ORPHA:79137
3778	KCNMA1	HP:0000639	Nystagmus	1/9	OMIM:618729
3778	KCNMA1	HP:0000699	Diastema	1/3	OMIM:618729
3778	KCNMA1	HP:0000675	Macrodontia of permanent maxillary central incisor	1/3	OMIM:618729
3778	KCNMA1	HP:0000664	Synophrys	1/5	OMIM:618729
3778	KCNMA1	HP:0004322	Short stature	1/2	OMIM:618596
3778	KCNMA1	HP:0000750	Delayed speech and language development	7/7	OMIM:618729
3778	KCNMA1	HP:0000750	Delayed speech and language development	2/2	OMIM:617643
3778	KCNMA1	HP:0011463	Childhood onset	7/13	OMIM:609446
3778	KCNMA1	HP:0000252	Microcephaly	1/2	OMIM:618596
3778	KCNMA1	HP:0000219	Thin upper lip vermilion	4/5	OMIM:618729
3778	KCNMA1	HP:0000212	Gingival overgrowth	3/9	OMIM:618729
3778	KCNMA1	HP:0000232	Everted lower lip vermilion	2/4	OMIM:618729
3778	KCNMA1	HP:0001601	Laryngomalacia	1/9	OMIM:618729
3778	KCNMA1	HP:0032794	Myoclonic seizure	1/2	OMIM:618596
3778	KCNMA1	HP:0032794	Myoclonic seizure	2/2	OMIM:617643
3778	KCNMA1	HP:0000316	Hypertelorism	4/5	OMIM:618729
3778	KCNMA1	HP:0011150	Myoclonic absence seizure	1/2	OMIM:618596
3778	KCNMA1	HP:0000486	Strabismus	3/9	OMIM:618729
3778	KCNMA1	HP:0000485	Megalocornea	1/9	OMIM:618729
3778	KCNMA1	HP:0000494	Downslanted palpebral fissures	4/5	OMIM:618729
3778	KCNMA1	HP:0000431	Wide nasal bridge	4/5	OMIM:618729
3778	KCNMA1	HP:0000565	Esotropia	HP:0040283	ORPHA:79137
3781	KCNN2	HP:0009921	Duane anomaly	1/5	OMIM:619724
3781	KCNN2	HP:0025269	Panic attack	1/10	OMIM:619725
3781	KCNN2	HP:0001270	Motor delay	9/10	OMIM:619725
3781	KCNN2	HP:0001251	Ataxia	4/10	OMIM:619725
3781	KCNN2	HP:0001249	Intellectual disability	9/9	OMIM:619725
3781	KCNN2	HP:0001263	Global developmental delay	9/10	OMIM:619725
3781	KCNN2	HP:0007338	Hypermetric saccades	1/5	OMIM:619724
3781	KCNN2	HP:0002518	Abnormal periventricular white matter morphology	1/10	OMIM:619725
3781	KCNN2	HP:0001332	Dystonia	5/5	OMIM:619724
3781	KCNN2	HP:0001332	Dystonia	1/10	OMIM:619725
3781	KCNN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619724
3781	KCNN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619725
3781	KCNN2	HP:0001336	Myoclonus	2/5	OMIM:619724
3781	KCNN2	HP:0001336	Myoclonus	1/10	OMIM:619725
3781	KCNN2	HP:0001300	Parkinsonism	1/10	OMIM:619725
3781	KCNN2	HP:0002080	Intention tremor	4/10	OMIM:619725
3781	KCNN2	HP:0002069	Bilateral tonic-clonic seizure	2/10	OMIM:619725
3781	KCNN2	HP:0002067	Bradykinesia	1/10	OMIM:619725
3781	KCNN2	HP:0002072	Chorea	1/10	OMIM:619725
3781	KCNN2	HP:0002188	Delayed CNS myelination	1/10	OMIM:619725
3781	KCNN2	HP:0003593	Infantile onset	2/10	OMIM:619725
3781	KCNN2	HP:0007018	Attention deficit hyperactivity disorder	3/10	OMIM:619725
3781	KCNN2	HP:0007082	Dilated third ventricle	1/10	OMIM:619725
3781	KCNN2	HP:0002396	Cogwheel rigidity	1/10	OMIM:619725
3781	KCNN2	HP:0002378	Hand tremor	5/5	OMIM:619724
3781	KCNN2	HP:0002356	Writer's cramp	2/5	OMIM:619724
3781	KCNN2	HP:0002346	Head tremor	2/5	OMIM:619724
3781	KCNN2	HP:0002322	Resting tremor	2/10	OMIM:619725
3781	KCNN2	HP:0100660	Dyskinesia	2/10	OMIM:619725
3781	KCNN2	HP:0003621	Juvenile onset	5/5	OMIM:619724
3781	KCNN2	HP:0000646	Amblyopia	1/5	OMIM:619724
3781	KCNN2	HP:0031951	Nocturnal seizures	1/10	OMIM:619725
3781	KCNN2	HP:0100034	Motor tics	3/10	OMIM:619725
3781	KCNN2	HP:0000739	Anxiety	3/10	OMIM:619725
3781	KCNN2	HP:0000733	Motor stereotypy	1/10	OMIM:619725
3781	KCNN2	HP:0000750	Delayed speech and language development	8/10	OMIM:619725
3781	KCNN2	HP:0000729	Autistic behavior	6/10	OMIM:619725
3781	KCNN2	HP:0000709	Psychosis	1/10	OMIM:619725
3781	KCNN2	HP:0011463	Childhood onset	8/10	OMIM:619725
3781	KCNN2	HP:0007772	Impaired smooth pursuit	3/5	OMIM:619724
3781	KCNN2	HP:0001583	Rotary nystagmus	2/5	OMIM:619724
3781	KCNN2	HP:0000252	Microcephaly	1/10	OMIM:619725
3781	KCNN2	HP:0031629	Impaired tandem gait	2/5	OMIM:619724
3781	KCNN2	HP:0000473	Torticollis	2/5	OMIM:619724
3781	KCNN2	HP:0000508	Ptosis	1/5	OMIM:619724
3782	KCNN3	HP:0001199	Triphalangeal thumb	1/3	OMIM:618658
3782	KCNN3	HP:0009894	Thickened ears	HP:0040282	ORPHA:3473
3782	KCNN3	HP:0009882	Short distal phalanx of finger	-	OMIM:618658
3782	KCNN3	HP:0001290	Generalized hypotonia	-	OMIM:618658
3782	KCNN3	HP:0001250	Seizure	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0001249	Intellectual disability	-	OMIM:618658
3782	KCNN3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:3473
3782	KCNN3	HP:0001263	Global developmental delay	3/3	OMIM:618658
3782	KCNN3	HP:0007440	Generalized hyperpigmentation	HP:0040284	ORPHA:3473
3782	KCNN3	HP:0100874	Thick hair	1/3	OMIM:618658
3782	KCNN3	HP:0001371	Flexion contracture	-	OMIM:618658
3782	KCNN3	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:3473
3782	KCNN3	HP:0006191	Deep palmar crease	HP:0040284	ORPHA:3473
3782	KCNN3	HP:0000006	Autosomal dominant inheritance	-	OMIM:618658
3782	KCNN3	HP:0000179	Thick lower lip vermilion	1/3	OMIM:618658
3782	KCNN3	HP:0000193	Bifid uvula	1/3	OMIM:618658
3782	KCNN3	HP:0000193	Bifid uvula	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0000158	Macroglossia	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0000175	Cleft palate	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0000169	Gingival fibromatosis	HP:0040280	ORPHA:3473
3782	KCNN3	HP:0000154	Wide mouth	HP:0040282	ORPHA:3473
3782	KCNN3	HP:0008947	Floppy infant	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0032524	Long thumb	1/3	OMIM:618658
3782	KCNN3	HP:0010432	Absent distal phalanx of the 2nd toe	1/3	OMIM:618658
3782	KCNN3	HP:0002265	Large fleshy ears	HP:0040282	ORPHA:3473
3782	KCNN3	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0002219	Facial hypertrichosis	1/3	OMIM:618658
3782	KCNN3	HP:0002219	Facial hypertrichosis	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0000668	Hypodontia	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0000664	Synophrys	2/3	OMIM:618658
3782	KCNN3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0009102	Anterior open-bite malocclusion	HP:0040282	ORPHA:3473
3782	KCNN3	HP:0100380	Aplasia of the distal phalanx of the 5th toe	1/3	OMIM:618658
3782	KCNN3	HP:0000811	Abnormal external genitalia morphology	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0004554	Generalized hypertrichosis	HP:0040282	ORPHA:3473
3782	KCNN3	HP:0000998	Hypertrichosis	1/3	OMIM:618658
3782	KCNN3	HP:0000977	Soft skin	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0005807	Absent distal phalanges	-	OMIM:618658
3782	KCNN3	HP:0000280	Coarse facial features	2/3	OMIM:618658
3782	KCNN3	HP:0000294	Low anterior hairline	1/3	OMIM:618658
3782	KCNN3	HP:0030084	Clinodactyly	-	OMIM:618658
3782	KCNN3	HP:0002808	Kyphosis	1/3	OMIM:618658
3782	KCNN3	HP:0006391	Overtubulated long bones	HP:0040284	ORPHA:3473
3782	KCNN3	HP:0000218	High palate	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0000218	High palate	1/3	OMIM:618658
3782	KCNN3	HP:0000212	Gingival overgrowth	2/3	OMIM:618658
3782	KCNN3	HP:0001510	Growth delay	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0000347	Micrognathia	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0001643	Patent ductus arteriosus	2/3	OMIM:618658
3782	KCNN3	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:3473
3782	KCNN3	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0001792	Small nail	3/3	OMIM:618658
3782	KCNN3	HP:0000455	Broad nasal tip	3/3	OMIM:618658
3782	KCNN3	HP:0000470	Short neck	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0001763	Pes planus	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0000445	Wide nose	HP:0040282	ORPHA:3473
3782	KCNN3	HP:0000414	Bulbous nose	HP:0040282	ORPHA:3473
3782	KCNN3	HP:0001744	Splenomegaly	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0000431	Wide nasal bridge	1/3	OMIM:618658
3782	KCNN3	HP:0001761	Pes cavus	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0000518	Cataract	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0001847	Long hallux	1/3	OMIM:618658
3782	KCNN3	HP:0000527	Long eyelashes	-	OMIM:618658
3782	KCNN3	HP:0000527	Long eyelashes	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0001822	Hallux valgus	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0000506	Telecanthus	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0001804	Hypoplastic fingernail	HP:0040282	ORPHA:3473
3782	KCNN3	HP:0001802	Absent toenail	1/3	OMIM:618658
3782	KCNN3	HP:0001817	Absent fingernail	HP:0040282	ORPHA:3473
3782	KCNN3	HP:0000574	Thick eyebrow	1/3	OMIM:618658
3782	KCNN3	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:3473
3782	KCNN3	HP:0001869	Deep plantar creases	HP:0040284	ORPHA:3473
3783	KCNN4	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
3783	KCNN4	HP:0032231	Hypochromia	HP:0040282	ORPHA:3202
3783	KCNN4	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
3783	KCNN4	HP:0010972	Anemia of inadequate production	HP:0040283	ORPHA:3202
3783	KCNN4	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
3783	KCNN4	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
3783	KCNN4	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
3783	KCNN4	HP:0000006	Autosomal dominant inheritance	-	OMIM:616689
3783	KCNN4	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:3202
3783	KCNN4	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
3783	KCNN4	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
3783	KCNN4	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
3783	KCNN4	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
3783	KCNN4	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
3783	KCNN4	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
3783	KCNN4	HP:0002027	Abdominal pain	HP:0040283	ORPHA:3202
3783	KCNN4	HP:0002099	Asthma	HP:0040283	ORPHA:586
3783	KCNN4	HP:0030950	Pulmonary venous hypertension	HP:0040284	ORPHA:3202
3783	KCNN4	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
3783	KCNN4	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
3783	KCNN4	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
3783	KCNN4	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
3783	KCNN4	HP:0003593	Infantile onset	1/4	OMIM:616689
3783	KCNN4	HP:0003577	Congenital onset	1/4	OMIM:616689
3783	KCNN4	HP:0003573	Increased total bilirubin	HP:0040282	ORPHA:3202
3783	KCNN4	HP:0002240	Hepatomegaly	-	OMIM:616689
3783	KCNN4	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
3783	KCNN4	HP:0004823	Anisopoikilocytosis	3/3	OMIM:616689
3783	KCNN4	HP:0004804	Congenital hemolytic anemia	HP:0040283	ORPHA:3202
3783	KCNN4	HP:0001046	Intermittent jaundice	HP:0040283	ORPHA:3202
3783	KCNN4	HP:0001081	Cholelithiasis	HP:0040282	ORPHA:3202
3783	KCNN4	HP:0020122	Bite cells	3/3	OMIM:616689
3783	KCNN4	HP:0005518	Increased mean corpuscular volume	1/4	OMIM:616689
3783	KCNN4	HP:0005518	Increased mean corpuscular volume	HP:0040283	ORPHA:3202
3783	KCNN4	HP:0005502	Increased red cell osmotic fragility	HP:0040281	ORPHA:3202
3783	KCNN4	HP:0001981	Schistocytosis	HP:0040282	ORPHA:3202
3783	KCNN4	HP:0001972	Macrocytic anemia	HP:0040282	ORPHA:3202
3783	KCNN4	HP:0001927	Acanthocytosis	3/3	OMIM:616689
3783	KCNN4	HP:0001923	Reticulocytosis	4/4	OMIM:616689
3783	KCNN4	HP:0001923	Reticulocytosis	HP:0040282	ORPHA:3202
3783	KCNN4	HP:0001930	Nonspherocytic hemolytic anemia	HP:0040281	ORPHA:3202
3783	KCNN4	HP:0001907	Thromboembolism	HP:0040283	ORPHA:3202
3783	KCNN4	HP:0001900	Increased circulating hemoglobin concentration	HP:0040283	ORPHA:3202
3783	KCNN4	HP:0001901	Polycythemia	HP:0040284	ORPHA:3202
3783	KCNN4	HP:0000739	Anxiety	HP:0040283	ORPHA:586
3783	KCNN4	HP:0000716	Depression	HP:0040283	ORPHA:586
3783	KCNN4	HP:0011463	Childhood onset	2/4	OMIM:616689
3783	KCNN4	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
3783	KCNN4	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
3783	KCNN4	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
3783	KCNN4	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
3783	KCNN4	HP:0003281	Increased circulating ferritin concentration	HP:0040282	ORPHA:3202
3783	KCNN4	HP:0003251	Male infertility	HP:0040282	ORPHA:586
3783	KCNN4	HP:0003265	Neonatal hyperbilirubinemia	HP:0040283	ORPHA:3202
3783	KCNN4	HP:0000952	Jaundice	-	OMIM:616689
3783	KCNN4	HP:0000969	Edema	HP:0040283	ORPHA:3202
3783	KCNN4	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
3783	KCNN4	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
3783	KCNN4	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
3783	KCNN4	HP:0025548	Increased mean corpuscular hemoglobin concentration	4/4	OMIM:616689
3783	KCNN4	HP:0025548	Increased mean corpuscular hemoglobin concentration	HP:0040283	ORPHA:3202
3783	KCNN4	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
3783	KCNN4	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
3783	KCNN4	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
3783	KCNN4	HP:0011042	Abnormal circulating potassium concentration	HP:0040282	ORPHA:3202
3783	KCNN4	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
3783	KCNN4	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
3783	KCNN4	HP:0002904	Hyperbilirubinemia	-	OMIM:616689
3783	KCNN4	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
3783	KCNN4	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
3783	KCNN4	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
3783	KCNN4	HP:0030242	Portal vein thrombosis	HP:0040284	ORPHA:3202
3783	KCNN4	HP:0012431	Episodic fatigue	HP:0040283	ORPHA:3202
3783	KCNN4	HP:0001744	Splenomegaly	3/3	OMIM:616689
3783	KCNN4	HP:0001744	Splenomegaly	HP:0040282	ORPHA:3202
3783	KCNN4	HP:0001894	Thrombocytosis	2/4	OMIM:616689
3783	KCNN4	HP:0001878	Hemolytic anemia	4/4	OMIM:616689
3783	KCNN4	HP:0001878	Hemolytic anemia	HP:0040281	ORPHA:3202
3784	KCNQ1	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040281	ORPHA:90647
3784	KCNQ1	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
3784	KCNQ1	HP:0001279	Syncope	-	OMIM:609621
3784	KCNQ1	HP:0001279	Syncope	6/9	OMIM:192500
3784	KCNQ1	HP:0001279	Syncope	2/16	OMIM:607554
3784	KCNQ1	HP:0001279	Syncope	HP:0040282	ORPHA:334
3784	KCNQ1	HP:0001279	Syncope	HP:0040282	ORPHA:101016
3784	KCNQ1	HP:0001279	Syncope	9/9	OMIM:220400
3784	KCNQ1	HP:0001279	Syncope	HP:0040283	ORPHA:51083
3784	KCNQ1	HP:0001279	Syncope	HP:0040282	ORPHA:90647
3784	KCNQ1	HP:0001250	Seizure	HP:0040283	ORPHA:101016
3784	KCNQ1	HP:0001250	Seizure	HP:0040283	ORPHA:90647
3784	KCNQ1	HP:0000076	Vesicoureteral reflux	-	OMIM:130650
3784	KCNQ1	HP:0000028	Cryptorchidism	-	OMIM:130650
3784	KCNQ1	HP:0000007	Autosomal recessive inheritance	-	OMIM:220400
3784	KCNQ1	HP:0002667	Nephroblastoma	-	OMIM:130650
3784	KCNQ1	HP:0000006	Autosomal dominant inheritance	-	OMIM:607554
3784	KCNQ1	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
3784	KCNQ1	HP:0000006	Autosomal dominant inheritance	-	OMIM:130650
3784	KCNQ1	HP:0000006	Autosomal dominant inheritance	-	OMIM:192500
3784	KCNQ1	HP:0000006	Autosomal dominant inheritance	-	OMIM:609621
3784	KCNQ1	HP:0001305	Dandy-Walker malformation	HP:0040283	OMIM:130650
3784	KCNQ1	HP:0000158	Macroglossia	-	OMIM:130650
3784	KCNQ1	HP:0000150	Gonadoblastoma	-	OMIM:130650
3784	KCNQ1	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
3784	KCNQ1	HP:0006277	Pancreatic hyperplasia	-	OMIM:130650
3784	KCNQ1	HP:0000121	Nephrocalcinosis	-	OMIM:130650
3784	KCNQ1	HP:0000105	Enlarged kidney	-	OMIM:130650
3784	KCNQ1	HP:0030973	Postexertional symptom exacerbation	HP:0040282	ORPHA:90647
3784	KCNQ1	HP:0011800	Midface retrusion	-	OMIM:130650
3784	KCNQ1	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
3784	KCNQ1	HP:0008186	Adrenocortical cytomegaly	-	OMIM:130650
3784	KCNQ1	HP:0004757	Paroxysmal atrial fibrillation	4/6	OMIM:607554
3784	KCNQ1	HP:0004754	Permanent atrial fibrillation	18/22	OMIM:607554
3784	KCNQ1	HP:0003596	Middle age onset	1/6	OMIM:607554
3784	KCNQ1	HP:0003577	Congenital onset	9/9	OMIM:220400
3784	KCNQ1	HP:0002240	Hepatomegaly	-	OMIM:130650
3784	KCNQ1	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
3784	KCNQ1	HP:0100749	Chest pain	HP:0040282	ORPHA:334
3784	KCNQ1	HP:0001052	Nevus flammeus	-	OMIM:130650
3784	KCNQ1	HP:0002321	Vertigo	HP:0040282	ORPHA:334
3784	KCNQ1	HP:0008523	Posterior helix pit	-	OMIM:130650
3784	KCNQ1	HP:0008527	Congenital sensorineural hearing impairment	9/9	OMIM:220400
3784	KCNQ1	HP:0032165	Placental mesenchymal dysplasia	-	OMIM:130650
3784	KCNQ1	HP:0003621	Juvenile onset	1/6	OMIM:607554
3784	KCNQ1	HP:0007185	Loss of consciousness	HP:0040282	ORPHA:90647
3784	KCNQ1	HP:0001962	Palpitations	HP:0040282	ORPHA:334
3784	KCNQ1	HP:0001962	Palpitations	HP:0040282	ORPHA:51083
3784	KCNQ1	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
3784	KCNQ1	HP:0001998	Neonatal hypoglycemia	-	OMIM:130650
3784	KCNQ1	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
3784	KCNQ1	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:51083
3784	KCNQ1	HP:0005616	Accelerated skeletal maturation	-	OMIM:130650
3784	KCNQ1	HP:0000803	Renal cortical cysts	-	OMIM:130650
3784	KCNQ1	HP:0011476	Profound sensorineural hearing impairment	HP:0040281	ORPHA:90647
3784	KCNQ1	HP:0011463	Childhood onset	1/1	OMIM:192500
3784	KCNQ1	HP:0011462	Young adult onset	5/7	OMIM:607554
3784	KCNQ1	HP:0000787	Nephrolithiasis	-	OMIM:130650
3784	KCNQ1	HP:0003247	Overgrowth of external genitalia	-	OMIM:130650
3784	KCNQ1	HP:0011675	Arrhythmia	HP:0040282	ORPHA:90647
3784	KCNQ1	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
3784	KCNQ1	HP:0000280	Coarse facial features	-	OMIM:130650
3784	KCNQ1	HP:0000269	Prominent occiput	-	OMIM:130650
3784	KCNQ1	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
3784	KCNQ1	HP:0005110	Atrial fibrillation	-	OMIM:609621
3784	KCNQ1	HP:0005110	Atrial fibrillation	-	OMIM:607554
3784	KCNQ1	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
3784	KCNQ1	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:51083
3784	KCNQ1	HP:0012232	Shortened QT interval	HP:0040280	ORPHA:51083
3784	KCNQ1	HP:0012232	Shortened QT interval	-	OMIM:609621
3784	KCNQ1	HP:0000239	Large fontanelles	-	OMIM:130650
3784	KCNQ1	HP:0002884	Hepatoblastoma	-	OMIM:130650
3784	KCNQ1	HP:0001548	Overgrowth	-	OMIM:130650
3784	KCNQ1	HP:0001528	Hemihypertrophy	-	OMIM:130650
3784	KCNQ1	HP:0001540	Diastasis recti	-	OMIM:130650
3784	KCNQ1	HP:0001539	Omphalocele	-	OMIM:130650
3784	KCNQ1	HP:0012378	Fatigue	HP:0040282	ORPHA:334
3784	KCNQ1	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
3784	KCNQ1	HP:0005184	Prolonged QTc interval	HP:0040281	ORPHA:90647
3784	KCNQ1	HP:0005184	Prolonged QTc interval	9/9	OMIM:220400
3784	KCNQ1	HP:0005184	Prolonged QTc interval	5/9	OMIM:192500
3784	KCNQ1	HP:0005184	Prolonged QTc interval	9/16	OMIM:607554
3784	KCNQ1	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
3784	KCNQ1	HP:0000365	Hearing impairment	-	ORPHA:101016
3784	KCNQ1	HP:0000364	Hearing abnormality	0/6	OMIM:192500
3784	KCNQ1	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
3784	KCNQ1	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
3784	KCNQ1	HP:0001664	Torsade de pointes	-	OMIM:220400
3784	KCNQ1	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
3784	KCNQ1	HP:0001664	Torsade de pointes	1/46	OMIM:115000
3784	KCNQ1	HP:0001664	Torsade de pointes	1/6	OMIM:192500
3784	KCNQ1	HP:0001664	Torsade de pointes	HP:0040282	ORPHA:90647
3784	KCNQ1	HP:0001678	Atrioventricular block	HP:0040283	ORPHA:51083
3784	KCNQ1	HP:0001645	Sudden cardiac death	-	OMIM:609621
3784	KCNQ1	HP:0001645	Sudden cardiac death	1/6	OMIM:192500
3784	KCNQ1	HP:0001645	Sudden cardiac death	0/16	OMIM:607554
3784	KCNQ1	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
3784	KCNQ1	HP:0001645	Sudden cardiac death	-	OMIM:220400
3784	KCNQ1	HP:0001645	Sudden cardiac death	-	OMIM:115000
3784	KCNQ1	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:51083
3784	KCNQ1	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:90647
3784	KCNQ1	HP:0001663	Ventricular fibrillation	HP:0040283	OMIM:609621
3784	KCNQ1	HP:0001663	Ventricular fibrillation	-	OMIM:115000
3784	KCNQ1	HP:0001663	Ventricular fibrillation	1/3	OMIM:192500
3784	KCNQ1	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:51083
3784	KCNQ1	HP:0001662	Bradycardia	-	OMIM:609621
3784	KCNQ1	HP:0001662	Bradycardia	HP:0040281	ORPHA:51083
3784	KCNQ1	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
3784	KCNQ1	HP:0001657	Prolonged QT interval	-	OMIM:192500
3784	KCNQ1	HP:0001657	Prolonged QT interval	-	OMIM:220400
3784	KCNQ1	HP:0001640	Cardiomegaly	-	OMIM:130650
3784	KCNQ1	HP:0001638	Cardiomyopathy	-	OMIM:130650
3784	KCNQ1	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
3784	KCNQ1	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
3784	KCNQ1	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
3784	KCNQ1	HP:0001727	Thromboembolic stroke	11/16	OMIM:607554
3784	KCNQ1	HP:0006744	Adrenocortical carcinoma	-	OMIM:130650
3784	KCNQ1	HP:0005487	Prominent metopic ridge	-	OMIM:130650
3784	KCNQ1	HP:0000520	Proptosis	-	OMIM:130650
3784	KCNQ1	HP:0001891	Iron deficiency anemia	HP:0040283	ORPHA:90647
3785	KCNQ2	HP:0002453	Abnormal globus pallidus morphology	HP:0040282	ORPHA:439218
3785	KCNQ2	HP:0010851	EEG with burst suppression	HP:0040281	ORPHA:439218
3785	KCNQ2	HP:0010851	EEG with burst suppression	1/1	OMIM:613720
3785	KCNQ2	HP:0002411	Myokymia	-	OMIM:121200
3785	KCNQ2	HP:0001276	Hypertonia	HP:0040283	ORPHA:293181
3785	KCNQ2	HP:0001276	Hypertonia	HP:0040283	ORPHA:306
3785	KCNQ2	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:293181
3785	KCNQ2	HP:0001270	Motor delay	HP:0040283	OMIM:121200
3785	KCNQ2	HP:0001268	Mental deterioration	HP:0040284	ORPHA:140927
3785	KCNQ2	HP:0001285	Spastic tetraparesis	-	OMIM:613720
3785	KCNQ2	HP:0001250	Seizure	HP:0040282	ORPHA:439218
3785	KCNQ2	HP:0001250	Seizure	1/1	OMIM:613720
3785	KCNQ2	HP:0001252	Hypotonia	HP:0040282	ORPHA:439218
3785	KCNQ2	HP:0001252	Hypotonia	HP:0040282	ORPHA:293181
3785	KCNQ2	HP:0001252	Hypotonia	1/1	OMIM:613720
3785	KCNQ2	HP:0001249	Intellectual disability	HP:0040280	ORPHA:439218
3785	KCNQ2	HP:0001249	Intellectual disability	-	OMIM:613720
3785	KCNQ2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:439218
3785	KCNQ2	HP:0001263	Global developmental delay	1/1	OMIM:613720
3785	KCNQ2	HP:0001263	Global developmental delay	HP:0040283	OMIM:121200
3785	KCNQ2	HP:0410263	Brain imaging abnormality	-	ORPHA:306
3785	KCNQ2	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:306
3785	KCNQ2	HP:0007359	Focal-onset seizure	HP:0040281	ORPHA:1949
3785	KCNQ2	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:293181
3785	KCNQ2	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:306
3785	KCNQ2	HP:0002540	Inability to walk	HP:0040281	ORPHA:293181
3785	KCNQ2	HP:0002540	Inability to walk	HP:0040282	ORPHA:439218
3785	KCNQ2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:293181
3785	KCNQ2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:439218
3785	KCNQ2	HP:0002500	Abnormal cerebral white matter morphology	HP:0040281	ORPHA:439218
3785	KCNQ2	HP:0001350	Slurred speech	HP:0040283	ORPHA:140927
3785	KCNQ2	HP:0001332	Dystonia	HP:0040282	ORPHA:439218
3785	KCNQ2	HP:0001332	Dystonia	1/1	OMIM:613720
3785	KCNQ2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613720
3785	KCNQ2	HP:0000006	Autosomal dominant inheritance	-	OMIM:121200
3785	KCNQ2	HP:0002650	Scoliosis	HP:0040283	ORPHA:293181
3785	KCNQ2	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:1949
3785	KCNQ2	HP:0025401	Staring gaze	HP:0040283	ORPHA:140927
3785	KCNQ2	HP:0032556	Circumoral cyanosis	HP:0040282	ORPHA:1949
3785	KCNQ2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:1949
3785	KCNQ2	HP:0002018	Nausea	HP:0040283	ORPHA:140927
3785	KCNQ2	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:293181
3785	KCNQ2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:293181
3785	KCNQ2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:140927
3785	KCNQ2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:306
3785	KCNQ2	HP:0002069	Bilateral tonic-clonic seizure	11/12	OMIM:121200
3785	KCNQ2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:439218
3785	KCNQ2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	OMIM:613720
3785	KCNQ2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:439218
3785	KCNQ2	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:293181
3785	KCNQ2	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:306
3785	KCNQ2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:306
3785	KCNQ2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:1949
3785	KCNQ2	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:140927
3785	KCNQ2	HP:0002104	Apnea	HP:0040282	ORPHA:306
3785	KCNQ2	HP:0002104	Apnea	HP:0040283	ORPHA:140927
3785	KCNQ2	HP:0002104	Apnea	HP:0040282	ORPHA:1949
3785	KCNQ2	HP:0002104	Apnea	HP:0040282	ORPHA:439218
3785	KCNQ2	HP:0002181	Cerebral edema	HP:0040282	ORPHA:439218
3785	KCNQ2	HP:0002169	Clonus	HP:0040282	ORPHA:1949
3785	KCNQ2	HP:0002172	Postural instability	HP:0040283	ORPHA:140927
3785	KCNQ2	HP:0002266	Focal clonic seizure	HP:0040281	ORPHA:1949
3785	KCNQ2	HP:0002266	Focal clonic seizure	HP:0040282	ORPHA:140927
3785	KCNQ2	HP:0002266	Focal clonic seizure	HP:0040282	ORPHA:306
3785	KCNQ2	HP:0002266	Focal clonic seizure	-	OMIM:121200
3785	KCNQ2	HP:0003593	Infantile onset	-	OMIM:613720
3785	KCNQ2	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:439218
3785	KCNQ2	HP:0200134	Epileptic encephalopathy	1/1	OMIM:613720
3785	KCNQ2	HP:0007015	Poor gross motor coordination	HP:0040282	ORPHA:439218
3785	KCNQ2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:439218
3785	KCNQ2	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:293181
3785	KCNQ2	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:306
3785	KCNQ2	HP:0002361	Psychomotor deterioration	-	ORPHA:306
3785	KCNQ2	HP:0002376	Developmental regression	HP:0040281	ORPHA:293181
3785	KCNQ2	HP:0001041	Facial erythema	HP:0040282	ORPHA:439218
3785	KCNQ2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	3/12	OMIM:121200
3785	KCNQ2	HP:0002372	Normal interictal EEG	HP:0040281	ORPHA:306
3785	KCNQ2	HP:0002321	Vertigo	HP:0040283	ORPHA:140927
3785	KCNQ2	HP:0002315	Headache	HP:0040283	ORPHA:140927
3785	KCNQ2	HP:0010841	Multifocal epileptiform discharges	HP:0040281	ORPHA:293181
3785	KCNQ2	HP:0010821	Focal emotional seizure with laughing	HP:0040282	ORPHA:293181
3785	KCNQ2	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:306
3785	KCNQ2	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:1949
3785	KCNQ2	HP:0010818	Generalized tonic seizure	HP:0040281	ORPHA:439218
3785	KCNQ2	HP:0003623	Neonatal onset	-	OMIM:121200
3785	KCNQ2	HP:0003623	Neonatal onset	1/1	OMIM:613720
3785	KCNQ2	HP:0031834	Aortopulmonary collateral arteries	HP:0040283	ORPHA:293181
3785	KCNQ2	HP:0006813	Focal hemiclonic seizure	HP:0040282	ORPHA:293181
3785	KCNQ2	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:293181
3785	KCNQ2	HP:0012736	Profound global developmental delay	HP:0040282	ORPHA:439218
3785	KCNQ2	HP:0011468	Facial tics	HP:0040283	ORPHA:1949
3785	KCNQ2	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:293181
3785	KCNQ2	HP:0000826	Precocious puberty	HP:0040284	ORPHA:293181
3785	KCNQ2	HP:0045084	Limb myoclonus	HP:0040282	ORPHA:1949
3785	KCNQ2	HP:0045084	Limb myoclonus	HP:0040283	ORPHA:306
3785	KCNQ2	HP:0000980	Pallor	HP:0040282	ORPHA:439218
3785	KCNQ2	HP:0000961	Cyanosis	HP:0040283	ORPHA:306
3785	KCNQ2	HP:0000252	Microcephaly	HP:0040282	ORPHA:293181
3785	KCNQ2	HP:0032678	Eyelid myoclonia seizure	HP:0040283	ORPHA:306
3785	KCNQ2	HP:0001508	Failure to thrive	HP:0040283	ORPHA:293181
3785	KCNQ2	HP:0032807	Neonatal seizure	HP:0040281	ORPHA:1949
3785	KCNQ2	HP:0032807	Neonatal seizure	HP:0040282	ORPHA:140927
3785	KCNQ2	HP:0032807	Neonatal seizure	HP:0040281	ORPHA:306
3785	KCNQ2	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:293181
3785	KCNQ2	HP:0011097	Epileptic spasm	HP:0040282	ORPHA:439218
3785	KCNQ2	HP:0032823	Neonatal electro-clinical seizure with behavior arrest	HP:0040283	ORPHA:306
3785	KCNQ2	HP:0031535	Increased theta frequency activity in EEG	HP:0040284	ORPHA:1949
3785	KCNQ2	HP:0032792	Tonic seizure	HP:0040282	ORPHA:140927
3785	KCNQ2	HP:0032794	Myoclonic seizure	HP:0040282	ORPHA:293181
3785	KCNQ2	HP:0031491	Continuous spike and waves during slow sleep	HP:0040284	ORPHA:140927
3785	KCNQ2	HP:0011193	EEG with focal spikes	HP:0040282	ORPHA:140927
3785	KCNQ2	HP:0011182	Interictal epileptiform activity	HP:0040284	ORPHA:306
3785	KCNQ2	HP:0011188	Focal EEG discharges with secondary generalization	HP:0040281	ORPHA:1949
3785	KCNQ2	HP:0011169	Generalized clonic seizure	HP:0040282	ORPHA:306
3785	KCNQ2	HP:0011171	Simple febrile seizure	HP:0040283	ORPHA:1949
3785	KCNQ2	HP:0011171	Simple febrile seizure	HP:0040284	ORPHA:306
3785	KCNQ2	HP:0011167	Focal tonic seizure	HP:0040281	ORPHA:1949
3785	KCNQ2	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:306
3785	KCNQ2	HP:0011154	Focal autonomic seizure	HP:0040282	ORPHA:1949
3785	KCNQ2	HP:0011153	Focal motor seizure	HP:0040282	ORPHA:306
3785	KCNQ2	HP:0032906	Focal head nodding automatism seizure	HP:0040283	ORPHA:306
3785	KCNQ2	HP:0012448	Delayed myelination	HP:0040283	ORPHA:293181
3785	KCNQ2	HP:0000505	Visual impairment	HP:0040283	ORPHA:293181
3786	KCNQ3	HP:0001276	Hypertonia	HP:0040283	ORPHA:306
3786	KCNQ3	HP:0001249	Intellectual disability	-	ORPHA:307
3786	KCNQ3	HP:0001249	Intellectual disability	0/7	OMIM:121201
3786	KCNQ3	HP:0001263	Global developmental delay	0/15	OMIM:121201
3786	KCNQ3	HP:0410263	Brain imaging abnormality	-	ORPHA:306
3786	KCNQ3	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:306
3786	KCNQ3	HP:0007359	Focal-onset seizure	HP:0040281	ORPHA:1949
3786	KCNQ3	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:306
3786	KCNQ3	HP:0000006	Autosomal dominant inheritance	-	OMIM:121201
3786	KCNQ3	HP:0000153	Abnormality of the mouth	HP:0040282	ORPHA:307
3786	KCNQ3	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:1949
3786	KCNQ3	HP:0032556	Circumoral cyanosis	HP:0040282	ORPHA:1949
3786	KCNQ3	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:1949
3786	KCNQ3	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:306
3786	KCNQ3	HP:0002069	Bilateral tonic-clonic seizure	0/15	OMIM:121201
3786	KCNQ3	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:307
3786	KCNQ3	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:306
3786	KCNQ3	HP:0002133	Status epilepticus	HP:0040284	ORPHA:307
3786	KCNQ3	HP:0002133	Status epilepticus	HP:0040284	ORPHA:306
3786	KCNQ3	HP:0002133	Status epilepticus	HP:0040284	ORPHA:1949
3786	KCNQ3	HP:0002104	Apnea	HP:0040282	ORPHA:306
3786	KCNQ3	HP:0002104	Apnea	HP:0040282	ORPHA:1949
3786	KCNQ3	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:307
3786	KCNQ3	HP:0002169	Clonus	HP:0040282	ORPHA:1949
3786	KCNQ3	HP:0002266	Focal clonic seizure	HP:0040281	ORPHA:1949
3786	KCNQ3	HP:0002266	Focal clonic seizure	HP:0040282	ORPHA:306
3786	KCNQ3	HP:0002266	Focal clonic seizure	21/22	OMIM:121201
3786	KCNQ3	HP:0007000	Morning myoclonic jerks	HP:0040281	ORPHA:307
3786	KCNQ3	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:306
3786	KCNQ3	HP:0002392	EEG with polyspike wave complexes	HP:0040281	ORPHA:307
3786	KCNQ3	HP:0002361	Psychomotor deterioration	-	ORPHA:306
3786	KCNQ3	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:307
3786	KCNQ3	HP:0002372	Normal interictal EEG	HP:0040281	ORPHA:306
3786	KCNQ3	HP:0007207	Photosensitive tonic-clonic seizure	HP:0040283	ORPHA:307
3786	KCNQ3	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:306
3786	KCNQ3	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:1949
3786	KCNQ3	HP:0003623	Neonatal onset	21/21	OMIM:121201
3786	KCNQ3	HP:0000718	Aggressive behavior	HP:0040284	ORPHA:307
3786	KCNQ3	HP:0011468	Facial tics	HP:0040283	ORPHA:1949
3786	KCNQ3	HP:0045084	Limb myoclonus	HP:0040282	ORPHA:1949
3786	KCNQ3	HP:0045084	Limb myoclonus	HP:0040283	ORPHA:306
3786	KCNQ3	HP:0000961	Cyanosis	HP:0040283	ORPHA:306
3786	KCNQ3	HP:0032678	Eyelid myoclonia seizure	HP:0040283	ORPHA:306
3786	KCNQ3	HP:0032807	Neonatal seizure	HP:0040281	ORPHA:1949
3786	KCNQ3	HP:0032807	Neonatal seizure	HP:0040281	ORPHA:306
3786	KCNQ3	HP:0032823	Neonatal electro-clinical seizure with behavior arrest	HP:0040283	ORPHA:306
3786	KCNQ3	HP:0031535	Increased theta frequency activity in EEG	HP:0040284	ORPHA:1949
3786	KCNQ3	HP:0011182	Interictal epileptiform activity	HP:0040284	ORPHA:306
3786	KCNQ3	HP:0011188	Focal EEG discharges with secondary generalization	HP:0040281	ORPHA:1949
3786	KCNQ3	HP:0011169	Generalized clonic seizure	HP:0040282	ORPHA:306
3786	KCNQ3	HP:0011171	Simple febrile seizure	HP:0040283	ORPHA:1949
3786	KCNQ3	HP:0011171	Simple febrile seizure	HP:0040284	ORPHA:306
3786	KCNQ3	HP:0011167	Focal tonic seizure	HP:0040281	ORPHA:1949
3786	KCNQ3	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:306
3786	KCNQ3	HP:0011154	Focal autonomic seizure	HP:0040282	ORPHA:1949
3786	KCNQ3	HP:0011153	Focal motor seizure	HP:0040282	ORPHA:306
3786	KCNQ3	HP:0032906	Focal head nodding automatism seizure	HP:0040283	ORPHA:306
3786	KCNQ3	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:307
3791	KDR	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3303
3791	KDR	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:3303
3791	KDR	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3303
3791	KDR	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
3791	KDR	HP:0000006	Autosomal dominant inheritance	-	OMIM:602089
3791	KDR	HP:0003593	Infantile onset	2/2	OMIM:602089
3791	KDR	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
3791	KDR	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:3303
3791	KDR	HP:0004467	Preauricular pit	HP:0040282	ORPHA:3303
3791	KDR	HP:0004467	Preauricular pit	-	OMIM:187500
3791	KDR	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:3303
3791	KDR	HP:0005105	Abnormal nasal morphology	HP:0040281	ORPHA:3303
3791	KDR	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:3303
3791	KDR	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3303
3791	KDR	HP:0000337	Broad forehead	-	OMIM:187500
3791	KDR	HP:0000337	Broad forehead	HP:0040281	ORPHA:3303
3791	KDR	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:3303
3791	KDR	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
3791	KDR	HP:0005306	Capillary hemangioma	2/2	OMIM:602089
3791	KDR	HP:0000520	Proptosis	-	OMIM:187500
3791	KDR	HP:0000520	Proptosis	HP:0040282	ORPHA:3303
3795	KHK	HP:0010969	Abnormality of glycolipid metabolism	HP:0040281	ORPHA:2056
3795	KHK	HP:6000804	Elevated urine fructose level	3/3	OMIM:229800
3795	KHK	HP:0000007	Autosomal recessive inheritance	-	OMIM:229800
3795	KHK	HP:0031979	Abnormal urine carbohydrate level	HP:0040281	ORPHA:2056
3795	KHK	HP:0003074	Hyperglycemia	-	ORPHA:2056
3795	KHK	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040280	ORPHA:2056
3795	KHK	HP:0011033	Impairment of fructose metabolism	HP:0040280	ORPHA:2056
3795	KHK	HP:0011033	Impairment of fructose metabolism	-	OMIM:229800
3795	KHK	HP:0030272	Abnormal erythrocyte enzyme concentration or activity	HP:0040281	ORPHA:2056
3796	KIF2A	HP:0001250	Seizure	2/2	OMIM:615411
3796	KIF2A	HP:0001263	Global developmental delay	2/2	OMIM:615411
3796	KIF2A	HP:0002539	Cortical dysplasia	-	OMIM:615411
3796	KIF2A	HP:0002510	Spastic tetraplegia	-	OMIM:615411
3796	KIF2A	HP:0033725	Thin corpus callosum	2/2	OMIM:615411
3796	KIF2A	HP:0032409	Subcortical band heterotopia	1/2	OMIM:615411
3796	KIF2A	HP:0001339	Lissencephaly	-	OMIM:615411
3796	KIF2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:615411
3796	KIF2A	HP:0001302	Pachygyria	2/2	OMIM:615411
3796	KIF2A	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:615411
3796	KIF2A	HP:0002282	Gray matter heterotopia	-	OMIM:615411
3796	KIF2A	HP:0031882	Agyria	1/2	OMIM:615411
3796	KIF2A	HP:0000639	Nystagmus	HP:0040283	OMIM:615411
3796	KIF2A	HP:0000252	Microcephaly	2/2	OMIM:615411
3796	KIF2A	HP:0001511	Intrauterine growth retardation	HP:0040283	OMIM:615411
3798	KIF5A	HP:0002493	Upper motor neuron dysfunction	HP:0040282	ORPHA:100991
3798	KIF5A	HP:0020221	Clonic seizure	1/1	OMIM:617235
3798	KIF5A	HP:0001252	Hypotonia	3/3	OMIM:617235
3798	KIF5A	HP:0001251	Ataxia	HP:0040283	OMIM:604187
3798	KIF5A	HP:0001263	Global developmental delay	2/2	OMIM:617235
3798	KIF5A	HP:0001258	Spastic paraplegia	-	OMIM:604187
3798	KIF5A	HP:0007350	Upper limb hyperreflexia	HP:0040282	ORPHA:100991
3798	KIF5A	HP:0007354	Amyotrophic lateral sclerosis	12/12	OMIM:617921
3798	KIF5A	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:100991
3798	KIF5A	HP:0007340	Lower limb muscle weakness	4/4	OMIM:604187
3798	KIF5A	HP:0003829	Typified by incomplete penetrance	-	OMIM:617921
3798	KIF5A	HP:0000020	Urinary incontinence	-	OMIM:604187
3798	KIF5A	HP:0031146	Impaired oral bolus formation	1/2	OMIM:617235
3798	KIF5A	HP:0000012	Urinary urgency	HP:0040282	ORPHA:100991
3798	KIF5A	HP:0000012	Urinary urgency	2/4	OMIM:604187
3798	KIF5A	HP:0000006	Autosomal dominant inheritance	-	OMIM:604187
3798	KIF5A	HP:0000006	Autosomal dominant inheritance	-	OMIM:617235
3798	KIF5A	HP:0000006	Autosomal dominant inheritance	-	OMIM:617921
3798	KIF5A	HP:0001336	Myoclonus	3/3	OMIM:617235
3798	KIF5A	HP:0001305	Dandy-Walker malformation	1/1	OMIM:617235
3798	KIF5A	HP:0002650	Scoliosis	2/4	OMIM:604187
3798	KIF5A	HP:0002650	Scoliosis	HP:0040284	ORPHA:100991
3798	KIF5A	HP:0002619	Varicose veins	HP:0040283	ORPHA:100991
3798	KIF5A	HP:0001300	Parkinsonism	HP:0040284	ORPHA:100991
3798	KIF5A	HP:0001300	Parkinsonism	HP:0040283	OMIM:604187
3798	KIF5A	HP:0008969	Leg muscle stiffness	HP:0040282	ORPHA:100991
3798	KIF5A	HP:0008944	Distal lower limb amyotrophy	HP:0040281	ORPHA:100991
3798	KIF5A	HP:0002033	Poor suck	1/2	OMIM:617235
3798	KIF5A	HP:0002015	Dysphagia	2/2	OMIM:617235
3798	KIF5A	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:100991
3798	KIF5A	HP:0002064	Spastic gait	4/4	OMIM:604187
3798	KIF5A	HP:0002061	Lower limb spasticity	HP:0040280	ORPHA:100991
3798	KIF5A	HP:0002061	Lower limb spasticity	-	OMIM:604187
3798	KIF5A	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:617235
3798	KIF5A	HP:0002072	Chorea	1/2	OMIM:617235
3798	KIF5A	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:100991
3798	KIF5A	HP:0003487	Babinski sign	HP:0040282	ORPHA:100991
3798	KIF5A	HP:0003487	Babinski sign	4/4	OMIM:604187
3798	KIF5A	HP:0003484	Upper limb muscle weakness	2/4	OMIM:604187
3798	KIF5A	HP:0002104	Apnea	2/2	OMIM:617235
3798	KIF5A	HP:0002188	Delayed CNS myelination	2/3	OMIM:617235
3798	KIF5A	HP:0002166	Impaired vibration sensation in the lower limbs	3/4	OMIM:604187
3798	KIF5A	HP:0003401	Paresthesia	HP:0040283	ORPHA:100991
3798	KIF5A	HP:0003596	Middle age onset	11/12	OMIM:617921
3798	KIF5A	HP:0003593	Infantile onset	4/4	OMIM:604187
3798	KIF5A	HP:0003577	Congenital onset	2/2	OMIM:617235
3798	KIF5A	HP:0100704	Cerebral visual impairment	1/2	OMIM:617235
3798	KIF5A	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:617235
3798	KIF5A	HP:0011968	Feeding difficulties	2/2	OMIM:617235
3798	KIF5A	HP:0002395	Lower limb hyperreflexia	HP:0040281	ORPHA:100991
3798	KIF5A	HP:0003676	Progressive	-	OMIM:604187
3798	KIF5A	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:100991
3798	KIF5A	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:100991
3798	KIF5A	HP:0003623	Neonatal onset	1/1	OMIM:617235
3798	KIF5A	HP:0002305	Athetosis	2/2	OMIM:617235
3798	KIF5A	HP:0006895	Lower limb hypertonia	8/8	OMIM:604187
3798	KIF5A	HP:0006886	Impaired distal vibration sensation	HP:0040282	ORPHA:100991
3798	KIF5A	HP:0000666	Horizontal nystagmus	1/2	OMIM:617235
3798	KIF5A	HP:0031958	Spastic paraparetic gait	HP:0040282	ORPHA:100991
3798	KIF5A	HP:0006980	Progressive leukoencephalopathy	1/1	OMIM:617235
3798	KIF5A	HP:0006986	Upper limb spasticity	HP:0040284	ORPHA:100991
3798	KIF5A	HP:0005679	Dupuytren contracture	HP:0040283	ORPHA:100991
3798	KIF5A	HP:0011462	Young adult onset	1/12	OMIM:617921
3798	KIF5A	HP:0011449	Knee clonus	-	OMIM:604187
3798	KIF5A	HP:0011448	Ankle clonus	HP:0040284	ORPHA:100991
3798	KIF5A	HP:0011448	Ankle clonus	-	OMIM:604187
3798	KIF5A	HP:0009129	Upper limb amyotrophy	HP:0040283	ORPHA:100991
3798	KIF5A	HP:0000252	Microcephaly	1/2	OMIM:617235
3798	KIF5A	HP:0002839	Urinary bladder sphincter dysfunction	-	OMIM:604187
3798	KIF5A	HP:0002936	Distal sensory impairment	HP:0040282	ORPHA:100991
3798	KIF5A	HP:0002936	Distal sensory impairment	3/4	OMIM:604187
3798	KIF5A	HP:0000365	Hearing impairment	HP:0040284	ORPHA:100991
3798	KIF5A	HP:0005340	Spastic/hyperactive bladder	HP:0040282	ORPHA:100991
3798	KIF5A	HP:0001761	Pes cavus	HP:0040283	ORPHA:100991
3798	KIF5A	HP:0001761	Pes cavus	3/4	OMIM:604187
3798	KIF5A	HP:0000510	Rod-cone dystrophy	HP:0040282	ORPHA:100991
3798	KIF5A	HP:0000508	Ptosis	2/2	OMIM:617235
3798	KIF5A	HP:0000543	Optic disc pallor	2/2	OMIM:617235
3799	KIF5B	HP:0001256	Intellectual disability, mild	-	OMIM:259770
3799	KIF5B	HP:0001252	Hypotonia	-	OMIM:259770
3799	KIF5B	HP:0001263	Global developmental delay	1/1	OMIM:612394
3799	KIF5B	HP:0001382	Joint hypermobility	-	OMIM:259770
3799	KIF5B	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
3799	KIF5B	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
3799	KIF5B	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
3799	KIF5B	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
3799	KIF5B	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
3799	KIF5B	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
3799	KIF5B	HP:0002650	Scoliosis	1/5	OMIM:259770
3799	KIF5B	HP:0002650	Scoliosis	1/1	OMIM:612394
3799	KIF5B	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
3799	KIF5B	HP:0002757	Recurrent fractures	4/5	OMIM:259770
3799	KIF5B	HP:0002756	Pathologic fracture	-	OMIM:259770
3799	KIF5B	HP:0002756	Pathologic fracture	1/1	OMIM:612394
3799	KIF5B	HP:0002751	Kyphoscoliosis	-	OMIM:259770
3799	KIF5B	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
3799	KIF5B	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
3799	KIF5B	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
3799	KIF5B	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
3799	KIF5B	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
3799	KIF5B	HP:0002164	Nail dysplasia	1/1	OMIM:612394
3799	KIF5B	HP:0010557	Overlapping fingers	1/2	OMIM:612394
3799	KIF5B	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
3799	KIF5B	HP:0003593	Infantile onset	1/5	OMIM:259770
3799	KIF5B	HP:0003577	Congenital onset	4/5	OMIM:259770
3799	KIF5B	HP:0002208	Coarse hair	1/1	OMIM:612394
3799	KIF5B	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
3799	KIF5B	HP:0025019	Arterial rupture	1/1	OMIM:612394
3799	KIF5B	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
3799	KIF5B	HP:0001089	Iris atrophy	-	OMIM:259770
3799	KIF5B	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
3799	KIF5B	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
3799	KIF5B	HP:0000618	Blindness	5/5	OMIM:259770
3799	KIF5B	HP:0000667	Phthisis bulbi	-	OMIM:259770
3799	KIF5B	HP:0004322	Short stature	-	OMIM:259770
3799	KIF5B	HP:0003016	Metaphyseal widening	-	OMIM:259770
3799	KIF5B	HP:0011461	Fetal onset	2/2	OMIM:612394
3799	KIF5B	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
3799	KIF5B	HP:0003196	Short nose	1/1	OMIM:612394
3799	KIF5B	HP:0000926	Platyspondyly	-	OMIM:259770
3799	KIF5B	HP:0000926	Platyspondyly	1/1	OMIM:612394
3799	KIF5B	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
3799	KIF5B	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
3799	KIF5B	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
3799	KIF5B	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
3799	KIF5B	HP:0000939	Osteoporosis	4/5	OMIM:259770
3799	KIF5B	HP:0000938	Osteopenia	1/5	OMIM:259770
3799	KIF5B	HP:0000938	Osteopenia	1/1	OMIM:612394
3799	KIF5B	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
3799	KIF5B	HP:0000272	Malar flattening	1/1	OMIM:612394
3799	KIF5B	HP:0007773	Vitreoretinopathy	-	OMIM:259770
3799	KIF5B	HP:0002808	Kyphosis	1/5	OMIM:259770
3799	KIF5B	HP:0000252	Microcephaly	-	OMIM:259770
3799	KIF5B	HP:0001552	Barrel-shaped chest	-	OMIM:259770
3799	KIF5B	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
3799	KIF5B	HP:0012368	Flat face	1/1	OMIM:612394
3799	KIF5B	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
3799	KIF5B	HP:0007875	Congenital blindness	4/5	OMIM:259770
3799	KIF5B	HP:0007862	Retinal calcification	1/5	OMIM:259770
3799	KIF5B	HP:0000369	Low-set ears	2/2	OMIM:612394
3799	KIF5B	HP:0002982	Tibial bowing	1/5	OMIM:259770
3799	KIF5B	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
3799	KIF5B	HP:0001629	Ventricular septal defect	-	OMIM:259770
3799	KIF5B	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
3799	KIF5B	HP:0000307	Pointed chin	1/2	OMIM:612394
3799	KIF5B	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
3799	KIF5B	HP:0000463	Anteverted nares	1/1	OMIM:612394
3799	KIF5B	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
3799	KIF5B	HP:0000518	Cataract	1/5	OMIM:259770
3799	KIF5B	HP:0000518	Cataract	1/1	OMIM:612394
3799	KIF5B	HP:0000586	Shallow orbits	1/1	OMIM:612394
3799	KIF5B	HP:0000568	Microphthalmia	1/5	OMIM:259770
3799	KIF5B	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
3799	KIF5B	HP:0000545	Myopia	1/1	OMIM:612394
3800	KIF5C	HP:0020221	Clonic seizure	1/1	OMIM:615282
3800	KIF5C	HP:0010864	Intellectual disability, severe	1/1	OMIM:615282
3800	KIF5C	HP:0001276	Hypertonia	1/1	OMIM:615282
3800	KIF5C	HP:0001250	Seizure	1/1	OMIM:615282
3800	KIF5C	HP:0001263	Global developmental delay	-	OMIM:615282
3800	KIF5C	HP:0002539	Cortical dysplasia	-	OMIM:615282
3800	KIF5C	HP:0002510	Spastic tetraplegia	1/1	OMIM:615282
3800	KIF5C	HP:0001344	Absent speech	1/1	OMIM:615282
3800	KIF5C	HP:0000006	Autosomal dominant inheritance	-	OMIM:615282
3800	KIF5C	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:615282
3800	KIF5C	HP:0002126	Polymicrogyria	4/4	OMIM:615282
3800	KIF5C	HP:0100716	Self-injurious behavior	1/1	OMIM:615282
3800	KIF5C	HP:0200055	Small hand	1/1	OMIM:615282
3800	KIF5C	HP:0001989	Fetal akinesia sequence	3/3	OMIM:615282
3800	KIF5C	HP:0000733	Motor stereotypy	1/1	OMIM:615282
3800	KIF5C	HP:0011461	Fetal onset	4/4	OMIM:615282
3800	KIF5C	HP:0002804	Arthrogryposis multiplex congenita	1/1	OMIM:615282
3800	KIF5C	HP:0000252	Microcephaly	1/1	OMIM:615282
3800	KIF5C	HP:0001511	Intrauterine growth retardation	1/1	OMIM:615282
3800	KIF5C	HP:0001773	Short foot	1/1	OMIM:615282
3800	KIF5C	HP:0005484	Secondary microcephaly	1/1	OMIM:615282
3814	KISS1	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:432
3814	KISS1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:432
3814	KISS1	HP:0008734	Decreased testicular size	1/1	OMIM:146110
3814	KISS1	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:432
3814	KISS1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:432
3814	KISS1	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:614842
3814	KISS1	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
3814	KISS1	HP:0000054	Micropenis	1/1	OMIM:146110
3814	KISS1	HP:0000054	Micropenis	HP:0040281	ORPHA:432
3814	KISS1	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:432
3814	KISS1	HP:0000028	Cryptorchidism	-	OMIM:146110
3814	KISS1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:432
3814	KISS1	HP:0000027	Azoospermia	HP:0040281	ORPHA:432
3814	KISS1	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:432
3814	KISS1	HP:0000013	Hypoplasia of the uterus	HP:0040282	ORPHA:432
3814	KISS1	HP:0000013	Hypoplasia of the uterus	-	OMIM:614842
3814	KISS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
3814	KISS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614842
3814	KISS1	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:432
3814	KISS1	HP:0000175	Cleft palate	HP:0040283	ORPHA:432
3814	KISS1	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:432
3814	KISS1	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:432
3814	KISS1	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:432
3814	KISS1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:432
3814	KISS1	HP:0002750	Delayed skeletal maturation	-	OMIM:614842
3814	KISS1	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:432
3814	KISS1	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:432
3814	KISS1	HP:0008214	Decreased serum estradiol	4/4	OMIM:614842
3814	KISS1	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
3814	KISS1	HP:0002231	Sparse body hair	HP:0040281	ORPHA:432
3814	KISS1	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
3814	KISS1	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:432
3814	KISS1	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:432
3814	KISS1	HP:0003621	Juvenile onset	2/2	OMIM:146110
3814	KISS1	HP:0003621	Juvenile onset	4/4	OMIM:614842
3814	KISS1	HP:0000802	Impotence	HP:0040281	ORPHA:432
3814	KISS1	HP:0000771	Gynecomastia	HP:0040282	ORPHA:432
3814	KISS1	HP:0000771	Gynecomastia	0/1	OMIM:146110
3814	KISS1	HP:0000739	Anxiety	HP:0040282	ORPHA:432
3814	KISS1	HP:0000716	Depression	HP:0040282	ORPHA:432
3814	KISS1	HP:0000789	Infertility	HP:0040283	OMIM:146110
3814	KISS1	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:432
3814	KISS1	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
3814	KISS1	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
3814	KISS1	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:432
3814	KISS1	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:432
3814	KISS1	HP:0000823	Delayed puberty	HP:0040282	ORPHA:432
3814	KISS1	HP:0000939	Osteoporosis	HP:0040282	ORPHA:432
3814	KISS1	HP:0000938	Osteopenia	HP:0040282	ORPHA:432
3814	KISS1	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:432
3814	KISS1	HP:0030019	Increased female libido	HP:0040281	ORPHA:432
3814	KISS1	HP:0012385	Camptodactyly	HP:0040283	ORPHA:432
3814	KISS1	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:432
3814	KISS1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:432
3814	KISS1	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:432
3814	KISS1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:432
3814	KISS1	HP:0000458	Anosmia	0/4	OMIM:614842
3814	KISS1	HP:0030344	Decreased circulating luteinizing hormone level	4/4	OMIM:614842
3814	KISS1	HP:0030341	Decreased circulating follicle stimulating hormone concentration	4/4	OMIM:614842
3815	KIT	HP:0001176	Large hands	-	OMIM:606764
3815	KIT	HP:0003745	Sporadic	-	OMIM:273300
3815	KIT	HP:0003745	Sporadic	-	OMIM:606764
3815	KIT	HP:0001100	Heterochromia iridis	-	OMIM:172800
3815	KIT	HP:0001100	Heterochromia iridis	HP:0040283	ORPHA:2884
3815	KIT	HP:0100833	Neoplasm of the small intestine	HP:0040283	ORPHA:44890
3815	KIT	HP:0001279	Syncope	HP:0040283	ORPHA:98849
3815	KIT	HP:0001252	Hypotonia	HP:0040283	ORPHA:2884
3815	KIT	HP:0001251	Ataxia	HP:0040283	ORPHA:2884
3815	KIT	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2884
3815	KIT	HP:0007443	Partial albinism	-	OMIM:172800
3815	KIT	HP:0100845	Anaphylactic shock	HP:0040284	ORPHA:79455
3815	KIT	HP:0007400	Irregular hyperpigmentation	HP:0040283	ORPHA:44890
3815	KIT	HP:0007378	Neoplasm of the gastrointestinal tract	HP:0040283	ORPHA:44890
3815	KIT	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:98849
3815	KIT	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:44890
3815	KIT	HP:0002683	Abnormal calvaria morphology	HP:0040283	ORPHA:2884
3815	KIT	HP:0000027	Azoospermia	-	OMIM:273300
3815	KIT	HP:0007542	Absent pigmentation of the ventral chest	-	OMIM:172800
3815	KIT	HP:0007544	Piebald skin depigmentation	HP:0040281	ORPHA:2884
3815	KIT	HP:0007544	Piebald skin depigmentation	-	OMIM:172800
3815	KIT	HP:0002664	Neoplasm	-	OMIM:172800
3815	KIT	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:98849
3815	KIT	HP:0002665	Lymphoma	HP:0040283	ORPHA:98849
3815	KIT	HP:0000006	Autosomal dominant inheritance	-	OMIM:606764
3815	KIT	HP:0000006	Autosomal dominant inheritance	-	OMIM:154800
3815	KIT	HP:0000006	Autosomal dominant inheritance	-	OMIM:172800
3815	KIT	HP:0000006	Autosomal dominant inheritance	-	OMIM:601626
3815	KIT	HP:0002653	Bone pain	HP:0040283	ORPHA:98849
3815	KIT	HP:0002615	Hypotension	HP:0040283	ORPHA:98849
3815	KIT	HP:0002615	Hypotension	HP:0040283	ORPHA:79455
3815	KIT	HP:0025473	Hyperpigmented papule	HP:0040282	ORPHA:79455
3815	KIT	HP:0012138	Granulocytic hyperplasia	HP:0040283	ORPHA:98849
3815	KIT	HP:0031284	Flushing	HP:0040283	ORPHA:98849
3815	KIT	HP:0031284	Flushing	HP:0040283	ORPHA:79455
3815	KIT	HP:0007583	Telangiectasia macularis eruptiva perstans	HP:0040284	ORPHA:79455
3815	KIT	HP:0007583	Telangiectasia macularis eruptiva perstans	-	OMIM:154800
3815	KIT	HP:0006254	Elevated circulating alpha-fetoprotein concentration	-	OMIM:273300
3815	KIT	HP:0001442	Typified by somatic mosaicism	-	OMIM:601626
3815	KIT	HP:0001442	Typified by somatic mosaicism	-	OMIM:273300
3815	KIT	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:98849
3815	KIT	HP:0002716	Lymphadenopathy	-	ORPHA:79455
3815	KIT	HP:0002018	Nausea	HP:0040283	ORPHA:98849
3815	KIT	HP:0002018	Nausea	HP:0040283	ORPHA:79455
3815	KIT	HP:0002019	Constipation	HP:0040282	ORPHA:44890
3815	KIT	HP:0002019	Constipation	-	OMIM:606764
3815	KIT	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:44890
3815	KIT	HP:0002027	Abdominal pain	HP:0040283	ORPHA:98849
3815	KIT	HP:0002027	Abdominal pain	HP:0040283	ORPHA:79455
3815	KIT	HP:0003326	Myalgia	HP:0040283	ORPHA:98849
3815	KIT	HP:0002014	Diarrhea	HP:0040283	ORPHA:98849
3815	KIT	HP:0002014	Diarrhea	HP:0040282	ORPHA:79455
3815	KIT	HP:0002015	Dysphagia	HP:0040282	ORPHA:44890
3815	KIT	HP:0002015	Dysphagia	-	OMIM:606764
3815	KIT	HP:0002013	Vomiting	HP:0040283	ORPHA:79455
3815	KIT	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:98849
3815	KIT	HP:0002094	Dyspnea	HP:0040283	ORPHA:79455
3815	KIT	HP:0100585	Telangiectasia of the skin	HP:0040283	ORPHA:79455
3815	KIT	HP:0100494	Abnormal mast cell morphology	HP:0040281	ORPHA:98849
3815	KIT	HP:0011897	Increased total neutrophil count	HP:0040283	ORPHA:98849
3815	KIT	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:98849
3815	KIT	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:44890
3815	KIT	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:2884
3815	KIT	HP:0002251	Aganglionic megacolon	-	OMIM:172800
3815	KIT	HP:0002227	White eyelashes	HP:0040282	ORPHA:2884
3815	KIT	HP:0002226	White eyebrow	HP:0040282	ORPHA:2884
3815	KIT	HP:0002211	White forelock	-	OMIM:172800
3815	KIT	HP:0002211	White forelock	HP:0040281	ORPHA:2884
3815	KIT	HP:0100768	Choriocarcinoma	-	OMIM:273300
3815	KIT	HP:0200151	Cutaneous mastocytosis	HP:0040281	ORPHA:280794
3815	KIT	HP:0200151	Cutaneous mastocytosis	HP:0040281	ORPHA:280785
3815	KIT	HP:0200151	Cutaneous mastocytosis	-	OMIM:154800
3815	KIT	HP:0100723	Gastrointestinal stroma tumor	-	OMIM:606764
3815	KIT	HP:0100723	Gastrointestinal stroma tumor	HP:0040281	ORPHA:44890
3815	KIT	HP:0100751	Esophageal neoplasm	HP:0040283	ORPHA:44890
3815	KIT	HP:0100743	Neoplasm of the rectum	HP:0040283	ORPHA:44890
3815	KIT	HP:0011971	Dermatographic urticaria	HP:0040284	ORPHA:79455
3815	KIT	HP:0004808	Acute myeloid leukemia	-	OMIM:601626
3815	KIT	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:98849
3815	KIT	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:2884
3815	KIT	HP:0001067	Neurofibroma	-	OMIM:606764
3815	KIT	HP:0001034	Hypermelanotic macule	-	OMIM:154800
3815	KIT	HP:0001034	Hypermelanotic macule	HP:0040282	ORPHA:79455
3815	KIT	HP:0001025	Urticaria	HP:0040281	ORPHA:280785
3815	KIT	HP:0001025	Urticaria	-	OMIM:154800
3815	KIT	HP:0001025	Urticaria	HP:0040283	ORPHA:98849
3815	KIT	HP:0001025	Urticaria	-	OMIM:606764
3815	KIT	HP:0001019	Erythroderma	HP:0040281	ORPHA:280785
3815	KIT	HP:0002315	Headache	HP:0040282	ORPHA:98849
3815	KIT	HP:0002315	Headache	HP:0040283	ORPHA:79455
3815	KIT	HP:0200036	Skin nodule	HP:0040282	ORPHA:79455
3815	KIT	HP:0200035	Skin plaque	HP:0040282	ORPHA:79455
3815	KIT	HP:0025081	Darier's sign	HP:0040281	ORPHA:79455
3815	KIT	HP:0100665	Angioedema	HP:0040284	ORPHA:79455
3815	KIT	HP:0001072	Thickened skin	HP:0040283	ORPHA:79455
3815	KIT	HP:0200041	Skin erosion	HP:0040283	ORPHA:79455
3815	KIT	HP:0010783	Erythema	-	OMIM:154800
3815	KIT	HP:0010783	Erythema	HP:0040283	ORPHA:79455
3815	KIT	HP:0009792	Teratoma	-	OMIM:273300
3815	KIT	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:2884
3815	KIT	HP:0005587	Profuse pigmented skin lesions	HP:0040281	ORPHA:280785
3815	KIT	HP:0031807	Increased total basophil count	HP:0040283	ORPHA:98849
3815	KIT	HP:0005550	Chronic lymphatic leukemia	HP:0040284	ORPHA:98849
3815	KIT	HP:0005547	Myeloproliferative disorder	HP:0040282	ORPHA:98849
3815	KIT	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:98849
3815	KIT	HP:0001945	Fever	HP:0040282	ORPHA:98849
3815	KIT	HP:0001903	Anemia	HP:0040283	ORPHA:44890
3815	KIT	HP:0000664	Synophrys	HP:0040283	ORPHA:2884
3815	KIT	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:98849
3815	KIT	HP:0031901	Elevated total serum tryptase	HP:0040281	ORPHA:98849
3815	KIT	HP:0031901	Elevated total serum tryptase	HP:0040283	ORPHA:79455
3815	KIT	HP:0004377	Hematological neoplasm	HP:0040281	ORPHA:98849
3815	KIT	HP:0012733	Macule	HP:0040282	ORPHA:79455
3815	KIT	HP:0012733	Macule	HP:0040282	ORPHA:2884
3815	KIT	HP:0000980	Pallor	HP:0040282	ORPHA:98849
3815	KIT	HP:0100273	Neoplasm of the colon	HP:0040283	ORPHA:44890
3815	KIT	HP:0000989	Pruritus	HP:0040281	ORPHA:280785
3815	KIT	HP:0000989	Pruritus	HP:0040282	ORPHA:98849
3815	KIT	HP:0000989	Pruritus	HP:0040282	ORPHA:79455
3815	KIT	HP:0000988	Skin rash	HP:0040283	ORPHA:44890
3815	KIT	HP:0000953	Hyperpigmentation of the skin	HP:0040283	ORPHA:79455
3815	KIT	HP:0000953	Hyperpigmentation of the skin	-	OMIM:606764
3815	KIT	HP:0000969	Edema	-	OMIM:154800
3815	KIT	HP:0000939	Osteoporosis	HP:0040283	ORPHA:98849
3815	KIT	HP:0100242	Sarcoma	HP:0040281	ORPHA:44890
3815	KIT	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:280785
3815	KIT	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:280794
3815	KIT	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:79455
3815	KIT	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:2884
3815	KIT	HP:0040186	Maculopapular exanthema	HP:0040282	ORPHA:79455
3815	KIT	HP:0040189	Scaling skin	HP:0040283	ORPHA:79455
3815	KIT	HP:0002829	Arthralgia	HP:0040283	ORPHA:98849
3815	KIT	HP:0002898	Embryonal neoplasm	-	OMIM:273300
3815	KIT	HP:0000252	Microcephaly	HP:0040283	ORPHA:2884
3815	KIT	HP:0025533	Peau d'orange	HP:0040282	ORPHA:79455
3815	KIT	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:98849
3815	KIT	HP:0012378	Fatigue	HP:0040282	ORPHA:98849
3815	KIT	HP:0012378	Fatigue	HP:0040282	ORPHA:44890
3815	KIT	HP:0011034	Amyloidosis	HP:0040284	ORPHA:98849
3815	KIT	HP:0005214	Intestinal obstruction	HP:0040282	ORPHA:44890
3815	KIT	HP:0005214	Intestinal obstruction	-	OMIM:606764
3815	KIT	HP:0006543	Cardiorespiratory arrest	HP:0040283	ORPHA:280785
3815	KIT	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2884
3815	KIT	HP:0000343	Long philtrum	HP:0040283	ORPHA:2884
3815	KIT	HP:0012324	Myeloid leukemia	HP:0040281	ORPHA:98849
3815	KIT	HP:0012325	Chronic myelomonocytic leukemia	HP:0040283	ORPHA:98849
3815	KIT	HP:0001649	Tachycardia	HP:0040283	ORPHA:98849
3815	KIT	HP:0001744	Splenomegaly	HP:0040283	ORPHA:98849
3815	KIT	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:2884
3815	KIT	HP:0006753	Neoplasm of the stomach	HP:0040281	ORPHA:44890
3815	KIT	HP:0006775	Multiple myeloma	HP:0040284	ORPHA:98849
3815	KIT	HP:0001824	Weight loss	HP:0040282	ORPHA:98849
3815	KIT	HP:0000598	Abnormality of the ear	-	OMIM:172800
3815	KIT	HP:0030350	Erythematous papule	HP:0040282	ORPHA:79455
3815	KIT	HP:0001895	Normochromic anemia	HP:0040282	ORPHA:98849
3815	KIT	HP:0001897	Normocytic anemia	HP:0040282	ORPHA:98849
3815	KIT	HP:0001880	Increased total eosinophil count	HP:0040282	ORPHA:98849
3815	KIT	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:98849
3818	KLKB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612423
3818	KLKB1	HP:0003584	Late onset	1/1	OMIM:612423
3818	KLKB1	HP:0003645	Prolonged partial thromboplastin time	1/1	OMIM:612423
3818	KLKB1	HP:0034371	Reduced circulating prekallikrein concentration	1/1	OMIM:612423
3818	KLKB1	HP:0001892	Abnormal bleeding	0/1	OMIM:612423
3827	KNG1	HP:0007514	Edema of the dorsum of hands	2/6	OMIM:619363
3827	KNG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:228960
3827	KNG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619363
3827	KNG1	HP:0031244	Swollen lip	5/6	OMIM:619363
3827	KNG1	HP:0003596	Middle age onset	2/6	OMIM:619363
3827	KNG1	HP:0003645	Prolonged partial thromboplastin time	-	OMIM:228960
3827	KNG1	HP:0100665	Angioedema	6/6	OMIM:619363
3827	KNG1	HP:0005527	Reduced kininogen activity	-	OMIM:228960
3827	KNG1	HP:0011462	Young adult onset	4/6	OMIM:619363
3827	KNG1	HP:0000282	Facial edema	5/6	OMIM:619363
3832	KIF11	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
3832	KIF11	HP:0009891	Underdeveloped supraorbital ridges	HP:0040283	ORPHA:2526
3832	KIF11	HP:0009879	Simplified gyral pattern	-	OMIM:152950
3832	KIF11	HP:0001276	Hypertonia	HP:0040283	ORPHA:2526
3832	KIF11	HP:0001256	Intellectual disability, mild	19/27	OMIM:152950
3832	KIF11	HP:0001250	Seizure	HP:0040283	ORPHA:2526
3832	KIF11	HP:0001252	Hypotonia	HP:0040282	ORPHA:2526
3832	KIF11	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2526
3832	KIF11	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2526
3832	KIF11	HP:0001257	Spasticity	HP:0040283	ORPHA:2526
3832	KIF11	HP:0003828	Variable expressivity	-	OMIM:152950
3832	KIF11	HP:0003829	Typified by incomplete penetrance	-	OMIM:152950
3832	KIF11	HP:0001328	Specific learning disability	HP:0040282	ORPHA:2526
3832	KIF11	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
3832	KIF11	HP:0002665	Lymphoma	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
3832	KIF11	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
3832	KIF11	HP:0000006	Autosomal dominant inheritance	-	OMIM:152950
3832	KIF11	HP:0002619	Varicose veins	-	OMIM:153400
3832	KIF11	HP:0000179	Thick lower lip vermilion	-	OMIM:152950
3832	KIF11	HP:0000175	Cleft palate	5/39	OMIM:153400
3832	KIF11	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:2526
3832	KIF11	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
3832	KIF11	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
3832	KIF11	HP:0007663	Reduced visual acuity	-	OMIM:152950
3832	KIF11	HP:0500041	Myopic astigmatism	-	OMIM:152950
3832	KIF11	HP:0002002	Deep philtrum	-	OMIM:152950
3832	KIF11	HP:0002063	Rigidity	HP:0040283	ORPHA:2526
3832	KIF11	HP:0002133	Status epilepticus	HP:0040283	ORPHA:2526
3832	KIF11	HP:0003552	Muscle stiffness	HP:0040283	ORPHA:2526
3832	KIF11	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
3832	KIF11	HP:0002202	Pleural effusion	HP:0040283	ORPHA:2526
3832	KIF11	HP:0009743	Distichiasis	42/42	OMIM:153400
3832	KIF11	HP:0100758	Gangrene	HP:0040283	ORPHA:2526
3832	KIF11	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:152950
3832	KIF11	HP:0003510	Severe short stature	HP:0040283	ORPHA:2526
3832	KIF11	HP:0008388	Abnormal toenail morphology	HP:0040282	ORPHA:2526
3832	KIF11	HP:0001055	Erysipelas	HP:0040283	ORPHA:2526
3832	KIF11	HP:0002360	Sleep abnormality	HP:0040283	OMIM:152950
3832	KIF11	HP:0001004	Lymphedema	HP:0040281	ORPHA:2526
3832	KIF11	HP:0001004	Lymphedema	14/27	OMIM:152950
3832	KIF11	HP:0001004	Lymphedema	-	OMIM:153400
3832	KIF11	HP:0100644	Melanonychia	HP:0040282	ORPHA:2526
3832	KIF11	HP:0100658	Cellulitis	HP:0040283	ORPHA:2526
3832	KIF11	HP:0100658	Cellulitis	2/6	OMIM:153400
3832	KIF11	HP:0001072	Thickened skin	HP:0040283	ORPHA:2526
3832	KIF11	HP:0200042	Skin ulcer	HP:0040283	ORPHA:2526
3832	KIF11	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:2526
3832	KIF11	HP:0003621	Juvenile onset	8/19	OMIM:180100
3832	KIF11	HP:0000639	Nystagmus	-	OMIM:152950
3832	KIF11	HP:0000646	Amblyopia	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000648	Optic atrophy	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000648	Optic atrophy	HP:0040283	OMIM:152950
3832	KIF11	HP:0000618	Blindness	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000613	Photophobia	10/49	OMIM:153400
3832	KIF11	HP:0000614	Abnormal nasolacrimal system morphology	HP:0040283	ORPHA:2526
3832	KIF11	HP:0001909	Leukemia	HP:0040283	ORPHA:2526
3832	KIF11	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
3832	KIF11	HP:0000662	Nyctalopia	26/28	OMIM:180100
3832	KIF11	HP:0000656	Ectropion	2/43	OMIM:153400
3832	KIF11	HP:0003011	Abnormality of the musculature	-	OMIM:153400
3832	KIF11	HP:0000718	Aggressive behavior	HP:0040283	OMIM:152950
3832	KIF11	HP:0000713	Agitation	HP:0040283	OMIM:152950
3832	KIF11	HP:0011463	Childhood onset	3/19	OMIM:180100
3832	KIF11	HP:0011462	Young adult onset	8/19	OMIM:180100
3832	KIF11	HP:0012804	Corneal ulceration	-	OMIM:153400
3832	KIF11	HP:0010310	Chylothorax	1/6	OMIM:153400
3832	KIF11	HP:0010310	Chylothorax	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000958	Dry skin	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000969	Edema	HP:0040282	ORPHA:2526
3832	KIF11	HP:0008052	Retinal fold	-	OMIM:152950
3832	KIF11	HP:0040189	Scaling skin	HP:0040283	ORPHA:2526
3832	KIF11	HP:0011675	Arrhythmia	-	OMIM:153400
3832	KIF11	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:2526
3832	KIF11	HP:0000286	Epicanthus	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000286	Epicanthus	-	OMIM:152950
3832	KIF11	HP:0000293	Full cheeks	HP:0040283	ORPHA:2526
3832	KIF11	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:2526
3832	KIF11	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
3832	KIF11	HP:0007731	Chorioretinal dysplasia	HP:0040283	ORPHA:2526
3832	KIF11	HP:0007731	Chorioretinal dysplasia	11/27	OMIM:152950
3832	KIF11	HP:0002808	Kyphosis	2/5	OMIM:153400
3832	KIF11	HP:0000252	Microcephaly	HP:0040281	ORPHA:2526
3832	KIF11	HP:0000252	Microcephaly	-	OMIM:152950
3832	KIF11	HP:0000219	Thin upper lip vermilion	-	OMIM:152950
3832	KIF11	HP:0000204	Cleft upper lip	-	OMIM:153400
3832	KIF11	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
3832	KIF11	HP:0007858	Chorioretinal lacunae	HP:0040283	OMIM:152950
3832	KIF11	HP:0000340	Sloping forehead	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000340	Sloping forehead	-	OMIM:152950
3832	KIF11	HP:0000343	Long philtrum	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000343	Long philtrum	-	OMIM:152950
3832	KIF11	HP:0000347	Micrognathia	2/5	OMIM:153400
3832	KIF11	HP:0032794	Myoclonic seizure	1/27	OMIM:152950
3832	KIF11	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
3832	KIF11	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
3832	KIF11	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
3832	KIF11	HP:0000307	Pointed chin	HP:0040283	ORPHA:2526
3832	KIF11	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000303	Mandibular prognathia	-	OMIM:152950
3832	KIF11	HP:0007957	Corneal opacity	-	OMIM:152950
3832	KIF11	HP:0012490	Panniculitis	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000499	Abnormal eyelash morphology	HP:0040283	ORPHA:2526
3832	KIF11	HP:0007973	Retinal dysplasia	HP:0040283	ORPHA:2526
3832	KIF11	HP:0005280	Depressed nasal bridge	-	OMIM:152950
3832	KIF11	HP:0000483	Astigmatism	3/27	OMIM:152950
3832	KIF11	HP:0000482	Microcornea	-	OMIM:152950
3832	KIF11	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000476	Cystic hygroma	2/43	OMIM:153400
3832	KIF11	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:2526
3832	KIF11	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
3832	KIF11	HP:0000494	Downslanted palpebral fissures	-	OMIM:152950
3832	KIF11	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000488	Retinopathy	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000463	Anteverted nares	-	OMIM:152950
3832	KIF11	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
3832	KIF11	HP:0000455	Broad nasal tip	-	OMIM:152950
3832	KIF11	HP:0000465	Webbed neck	6/43	OMIM:153400
3832	KIF11	HP:0000445	Wide nose	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000411	Protruding ear	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000411	Protruding ear	-	OMIM:152950
3832	KIF11	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:2526
3832	KIF11	HP:0005469	Flat occiput	-	OMIM:152950
3832	KIF11	HP:0000518	Cataract	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000518	Cataract	-	OMIM:152950
3832	KIF11	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
3832	KIF11	HP:0000528	Anophthalmia	HP:0040283	ORPHA:2526
3832	KIF11	HP:0001820	Leukonychia	HP:0040282	ORPHA:2526
3832	KIF11	HP:0000509	Conjunctivitis	-	OMIM:153400
3832	KIF11	HP:0000508	Ptosis	2/39	OMIM:153400
3832	KIF11	HP:0000508	Ptosis	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:2526
3832	KIF11	HP:0000501	Glaucoma	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000582	Upslanted palpebral fissure	HP:0040283	OMIM:152950
3832	KIF11	HP:0000575	Scotoma	5/18	OMIM:180100
3832	KIF11	HP:0000587	Abnormal optic nerve morphology	HP:0040283	ORPHA:2526
3832	KIF11	HP:0011220	Prominent forehead	HP:0040283	OMIM:152950
3832	KIF11	HP:0000556	Retinal dystrophy	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000572	Visual loss	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000568	Microphthalmia	1/6	OMIM:153400
3832	KIF11	HP:0000568	Microphthalmia	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000568	Microphthalmia	-	OMIM:152950
3832	KIF11	HP:0000541	Retinal detachment	HP:0040283	ORPHA:2526
3832	KIF11	HP:0000541	Retinal detachment	-	OMIM:152950
3832	KIF11	HP:0000540	Hypermetropia	3/27	OMIM:152950
3832	KIF11	HP:0000543	Optic disc pallor	1/1	OMIM:180100
3832	KIF11	HP:0000545	Myopia	-	OMIM:180100
3832	KIF11	HP:0000545	Myopia	HP:0040282	ORPHA:2526
3832	KIF11	HP:0000545	Myopia	HP:0040283	OMIM:152950
3835	KIF22	HP:0001156	Brachydactyly	-	OMIM:143095
3835	KIF22	HP:0009882	Short distal phalanx of finger	-	OMIM:143095
3835	KIF22	HP:0008551	Microtia	-	OMIM:143095
3835	KIF22	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3835	KIF22	HP:0001293	Cranial nerve compression	-	OMIM:131300
3835	KIF22	HP:0001290	Generalized hypotonia	-	OMIM:603546
3835	KIF22	HP:0001250	Seizure	HP:0040283	ORPHA:93360
3835	KIF22	HP:0001252	Hypotonia	-	OMIM:603546
3835	KIF22	HP:0001252	Hypotonia	2/7	OMIM:615777
3835	KIF22	HP:0001249	Intellectual disability	0/9	OMIM:143095
3835	KIF22	HP:0001249	Intellectual disability	3/20	OMIM:150250
3835	KIF22	HP:0001249	Intellectual disability	5/7	OMIM:615777
3835	KIF22	HP:0001263	Global developmental delay	-	OMIM:615777
3835	KIF22	HP:0001238	Slender finger	HP:0040282	ORPHA:93360
3835	KIF22	HP:0008755	Laryngotracheomalacia	HP:0040282	ORPHA:93360
3835	KIF22	HP:0008755	Laryngotracheomalacia	5/8	OMIM:603546
3835	KIF22	HP:0100864	Short femoral neck	-	OMIM:143095
3835	KIF22	HP:0006067	Multiple carpal ossification centers	-	OMIM:143095
3835	KIF22	HP:0006067	Multiple carpal ossification centers	-	OMIM:150250
3835	KIF22	HP:0006014	Abnormally shaped carpal bones	HP:0040282	ORPHA:93360
3835	KIF22	HP:0006016	Delayed phalangeal epiphyseal ossification	-	OMIM:603546
3835	KIF22	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:143095
3835	KIF22	HP:0003883	Tapered humerus	3/16	OMIM:150250
3835	KIF22	HP:0001222	Spatulate thumbs	17/18	OMIM:150250
3835	KIF22	HP:0002515	Waddling gait	54/102	OMIM:131300
3835	KIF22	HP:0002515	Waddling gait	-	OMIM:143095
3835	KIF22	HP:0003834	Shoulder dislocation	-	OMIM:143095
3835	KIF22	HP:0001374	Congenital hip dislocation	-	OMIM:603546
3835	KIF22	HP:0001371	Flexion contracture	-	OMIM:143095
3835	KIF22	HP:0001373	Joint dislocation	-	OMIM:143095
3835	KIF22	HP:0001382	Joint hypermobility	-	OMIM:603546
3835	KIF22	HP:0001382	Joint hypermobility	-	OMIM:150250
3835	KIF22	HP:0001382	Joint hypermobility	-	OMIM:615777
3835	KIF22	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:93360
3835	KIF22	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3835	KIF22	HP:0000028	Cryptorchidism	-	OMIM:150250
3835	KIF22	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3835	KIF22	HP:0006236	Slender metacarpals	HP:0040282	ORPHA:93360
3835	KIF22	HP:0008857	Neonatal short-trunk short stature	HP:0040282	ORPHA:93360
3835	KIF22	HP:0012095	Multiple joint dislocation	HP:0040282	ORPHA:93360
3835	KIF22	HP:0008819	Narrow femoral neck	-	OMIM:603546
3835	KIF22	HP:0006127	Long proximal phalanx of finger	-	OMIM:603546
3835	KIF22	HP:0003994	Dislocated wrist	-	OMIM:150250
3835	KIF22	HP:0002663	Delayed epiphyseal ossification	HP:0040282	ORPHA:93360
3835	KIF22	HP:0002656	Epiphyseal dysplasia	HP:0040281	ORPHA:93360
3835	KIF22	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3835	KIF22	HP:0001324	Muscle weakness	40/96	OMIM:131300
3835	KIF22	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:143095
3835	KIF22	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3835	KIF22	HP:0000007	Autosomal recessive inheritance	-	OMIM:143095
3835	KIF22	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3835	KIF22	HP:0000006	Autosomal dominant inheritance	-	OMIM:150250
3835	KIF22	HP:0000006	Autosomal dominant inheritance	-	OMIM:603546
3835	KIF22	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3835	KIF22	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:93360
3835	KIF22	HP:0002650	Scoliosis	9/9	OMIM:143095
3835	KIF22	HP:0002650	Scoliosis	13/18	OMIM:603546
3835	KIF22	HP:0002650	Scoliosis	12/14	OMIM:131300
3835	KIF22	HP:0002650	Scoliosis	12/20	OMIM:150250
3835	KIF22	HP:0002650	Scoliosis	HP:0040283	ORPHA:93360
3835	KIF22	HP:0002651	Spondyloepimetaphyseal dysplasia	HP:0040282	ORPHA:93360
3835	KIF22	HP:0002651	Spondyloepimetaphyseal dysplasia	-	OMIM:603546
3835	KIF22	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3835	KIF22	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3835	KIF22	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3835	KIF22	HP:0008905	Rhizomelia	-	OMIM:143095
3835	KIF22	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3835	KIF22	HP:0001498	Carpal bone hypoplasia	-	OMIM:603546
3835	KIF22	HP:0000175	Cleft palate	3/20	OMIM:150250
3835	KIF22	HP:0000175	Cleft palate	2/7	OMIM:615777
3835	KIF22	HP:0005008	Large joint dislocations	-	OMIM:603546
3835	KIF22	HP:0007598	Bilateral single transverse palmar creases	-	OMIM:143095
3835	KIF22	HP:0002780	Bronchomalacia	-	OMIM:150250
3835	KIF22	HP:0002779	Tracheomalacia	-	OMIM:150250
3835	KIF22	HP:0002777	Tracheal stenosis	-	OMIM:150250
3835	KIF22	HP:0002761	Generalized joint hypermobility	HP:0040282	ORPHA:93360
3835	KIF22	HP:0002751	Kyphoscoliosis	-	OMIM:143095
3835	KIF22	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:93360
3835	KIF22	HP:0002750	Delayed skeletal maturation	-	OMIM:143095
3835	KIF22	HP:0002007	Frontal bossing	-	OMIM:150250
3835	KIF22	HP:0003304	Spondylolysis	-	OMIM:150250
3835	KIF22	HP:0003301	Irregular vertebral endplates	-	OMIM:603546
3835	KIF22	HP:0003301	Irregular vertebral endplates	-	OMIM:143095
3835	KIF22	HP:0100531	Wind-swept deformity of the knees	1/8	OMIM:603546
3835	KIF22	HP:0011800	Midface retrusion	8/8	OMIM:603546
3835	KIF22	HP:0011800	Midface retrusion	19/20	OMIM:150250
3835	KIF22	HP:0011800	Midface retrusion	HP:0040281	ORPHA:93360
3835	KIF22	HP:0002092	Pulmonary arterial hypertension	-	OMIM:143095
3835	KIF22	HP:0003370	Flat capital femoral epiphysis	HP:0040283	ORPHA:93360
3835	KIF22	HP:0003370	Flat capital femoral epiphysis	-	OMIM:603546
3835	KIF22	HP:0003388	Easy fatigability	36/76	OMIM:131300
3835	KIF22	HP:0010446	Tricuspid stenosis	-	OMIM:143095
3835	KIF22	HP:0008127	Bipartite calcaneus	-	OMIM:150250
3835	KIF22	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3835	KIF22	HP:0003417	Coronal cleft vertebrae	-	OMIM:143095
3835	KIF22	HP:0002194	Delayed gross motor development	-	OMIM:143095
3835	KIF22	HP:0002176	Spinal cord compression	-	OMIM:150250
3835	KIF22	HP:0100490	Camptodactyly of finger	-	OMIM:143095
3835	KIF22	HP:0010585	Small epiphyses	-	OMIM:603546
3835	KIF22	HP:0010585	Small epiphyses	9/9	OMIM:143095
3835	KIF22	HP:0010582	Irregular epiphyses	-	OMIM:603546
3835	KIF22	HP:0003593	Infantile onset	9/9	OMIM:143095
3835	KIF22	HP:0003577	Congenital onset	6/6	OMIM:143095
3835	KIF22	HP:0004875	Neonatal inspiratory stridor	HP:0040283	ORPHA:93360
3835	KIF22	HP:0010674	Abnormal curvature of the vertebral column	HP:0040282	ORPHA:93360
3835	KIF22	HP:0003510	Severe short stature	7/7	OMIM:615777
3835	KIF22	HP:0002315	Headache	-	OMIM:131300
3835	KIF22	HP:0004976	Knee dislocation	16/20	OMIM:150250
3835	KIF22	HP:0004976	Knee dislocation	6/6	OMIM:143095
3835	KIF22	HP:0004976	Knee dislocation	6/7	OMIM:615777
3835	KIF22	HP:0009836	Broad distal phalanx of finger	-	OMIM:603546
3835	KIF22	HP:0009815	Aplasia/hypoplasia of the extremities	HP:0040282	ORPHA:93360
3835	KIF22	HP:0009803	Short phalanx of finger	-	OMIM:143095
3835	KIF22	HP:0009803	Short phalanx of finger	-	OMIM:615777
3835	KIF22	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:143095
3835	KIF22	HP:0008457	Caudal interpedicular narrowing	-	OMIM:603546
3835	KIF22	HP:0010743	Short metatarsal	-	OMIM:150250
3835	KIF22	HP:0009763	Limb pain	63/92	OMIM:131300
3835	KIF22	HP:0008434	Hypoplastic cervical vertebrae	-	OMIM:150250
3835	KIF22	HP:0003621	Juvenile onset	-	OMIM:131300
3835	KIF22	HP:0004942	Aortic aneurysm	-	OMIM:150250
3835	KIF22	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3835	KIF22	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3835	KIF22	HP:0004232	Accessory carpal bones	-	OMIM:150250
3835	KIF22	HP:6001056	Out-toeing	-	OMIM:131300
3835	KIF22	HP:0000651	Diplopia	-	OMIM:131300
3835	KIF22	HP:0100168	Fragmented epiphyses	HP:0040282	ORPHA:93360
3835	KIF22	HP:0001956	Truncal obesity	2/7	OMIM:615777
3835	KIF22	HP:0001903	Anemia	HP:0040283	OMIM:131300
3835	KIF22	HP:0010049	Short metacarpal	-	OMIM:143095
3835	KIF22	HP:0010049	Short metacarpal	-	OMIM:615777
3835	KIF22	HP:0010049	Short metacarpal	-	OMIM:150250
3835	KIF22	HP:0000684	Delayed eruption of teeth	-	OMIM:143095
3835	KIF22	HP:0000678	Dental crowding	-	OMIM:615777
3835	KIF22	HP:0000691	Microdontia	-	OMIM:143095
3835	KIF22	HP:0000687	Widely spaced teeth	-	OMIM:143095
3835	KIF22	HP:0000670	Carious teeth	-	OMIM:131300
3835	KIF22	HP:0011304	Broad thumb	2/7	OMIM:615777
3835	KIF22	HP:0000668	Hypodontia	-	OMIM:615777
3835	KIF22	HP:0000668	Hypodontia	-	OMIM:150250
3835	KIF22	HP:0000664	Synophrys	-	OMIM:615777
3835	KIF22	HP:0004322	Short stature	7/8	OMIM:603546
3835	KIF22	HP:0004322	Short stature	HP:0040281	ORPHA:93360
3835	KIF22	HP:0004322	Short stature	15/15	OMIM:143095
3835	KIF22	HP:0004322	Short stature	14/20	OMIM:150250
3835	KIF22	HP:0005619	Thoracolumbar kyphosis	HP:0040283	ORPHA:93360
3835	KIF22	HP:0003071	Flattened epiphysis	-	OMIM:603546
3835	KIF22	HP:0003071	Flattened epiphysis	-	OMIM:143095
3835	KIF22	HP:0003088	Premature osteoarthritis	HP:0040282	ORPHA:93360
3835	KIF22	HP:0003083	Dislocated radial head	-	OMIM:603546
3835	KIF22	HP:0003083	Dislocated radial head	6/6	OMIM:143095
3835	KIF22	HP:0004396	Poor appetite	-	OMIM:131300
3835	KIF22	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3835	KIF22	HP:0003031	Ulnar bowing	-	OMIM:143095
3835	KIF22	HP:0003048	Radial head subluxation	HP:0040283	ORPHA:93360
3835	KIF22	HP:0003048	Radial head subluxation	6/8	OMIM:603546
3835	KIF22	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3835	KIF22	HP:0003042	Elbow dislocation	-	OMIM:143095
3835	KIF22	HP:0003042	Elbow dislocation	13/20	OMIM:150250
3835	KIF22	HP:0003040	Arthropathy	-	OMIM:143095
3835	KIF22	HP:0003015	Flared metaphysis	-	OMIM:603546
3835	KIF22	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3835	KIF22	HP:0003026	Short long bone	7/7	OMIM:615777
3835	KIF22	HP:0003025	Metaphyseal irregularity	HP:0040282	ORPHA:93360
3835	KIF22	HP:0003025	Metaphyseal irregularity	-	OMIM:603546
3835	KIF22	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3835	KIF22	HP:0003022	Hypoplasia of the ulna	-	OMIM:143095
3835	KIF22	HP:0000767	Pectus excavatum	-	OMIM:150250
3835	KIF22	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3835	KIF22	HP:0000768	Pectus carinatum	-	OMIM:150250
3835	KIF22	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3835	KIF22	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3835	KIF22	HP:0000750	Delayed speech and language development	-	OMIM:615777
3835	KIF22	HP:0009179	Deviation of the 5th finger	-	OMIM:143095
3835	KIF22	HP:0011461	Fetal onset	7/7	OMIM:615777
3835	KIF22	HP:0000774	Narrow chest	2/7	OMIM:615777
3835	KIF22	HP:0000914	Shield chest	-	OMIM:143095
3835	KIF22	HP:0000926	Platyspondyly	1/7	OMIM:615777
3835	KIF22	HP:0000926	Platyspondyly	HP:0040282	ORPHA:93360
3835	KIF22	HP:0003184	Decreased hip abduction	-	OMIM:143095
3835	KIF22	HP:0003180	Flat acetabular roof	-	OMIM:615777
3835	KIF22	HP:0004482	Relative macrocephaly	-	OMIM:615777
3835	KIF22	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3835	KIF22	HP:0003093	Limited hip extension	9/9	OMIM:143095
3835	KIF22	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:603546
3835	KIF22	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:143095
3835	KIF22	HP:0000823	Delayed puberty	-	OMIM:131300
3835	KIF22	HP:0040064	Abnormality of limbs	HP:0040282	ORPHA:93360
3835	KIF22	HP:0000894	Short clavicles	-	OMIM:615777
3835	KIF22	HP:0004568	Beaking of vertebral bodies	-	OMIM:150250
3835	KIF22	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3835	KIF22	HP:0003298	Spina bifida occulta	-	OMIM:150250
3835	KIF22	HP:0045075	Sparse eyebrow	-	OMIM:143095
3835	KIF22	HP:0010301	Spinal dysraphism	-	OMIM:603546
3835	KIF22	HP:0000977	Soft skin	-	OMIM:603546
3835	KIF22	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3835	KIF22	HP:6000970	Diminished sulfotransferase activity in cultured fibroblasts	2/2	OMIM:143095
3835	KIF22	HP:0012297	Slender proximal phalanx of finger	-	OMIM:603546
3835	KIF22	HP:0012299	Long distal phalanx of finger	-	OMIM:603546
3835	KIF22	HP:0012296	Slender distal phalanx of finger	-	OMIM:603546
3835	KIF22	HP:0000286	Epicanthus	1/7	OMIM:615777
3835	KIF22	HP:0000280	Coarse facial features	2/7	OMIM:615777
3835	KIF22	HP:0000272	Malar flattening	-	OMIM:603546
3835	KIF22	HP:0000272	Malar flattening	-	OMIM:150250
3835	KIF22	HP:0006471	Fixed elbow flexion	-	OMIM:143095
3835	KIF22	HP:0006462	Generalized bone demineralization	-	OMIM:143095
3835	KIF22	HP:0006454	Delayed patellar ossification	-	OMIM:603546
3835	KIF22	HP:0005121	Posterior scalloping of vertebral bodies	-	OMIM:603546
3835	KIF22	HP:0005092	Streaky metaphyseal sclerosis	-	OMIM:603546
3835	KIF22	HP:0002816	Genu recurvatum	3/6	OMIM:143095
3835	KIF22	HP:0002829	Arthralgia	-	OMIM:143095
3835	KIF22	HP:0002827	Hip dislocation	1/8	OMIM:603546
3835	KIF22	HP:0002827	Hip dislocation	16/20	OMIM:150250
3835	KIF22	HP:0002827	Hip dislocation	3/7	OMIM:615777
3835	KIF22	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93360
3835	KIF22	HP:0002808	Kyphosis	-	OMIM:143095
3835	KIF22	HP:0002808	Kyphosis	3/8	OMIM:603546
3835	KIF22	HP:0002808	Kyphosis	HP:0040283	ORPHA:93360
3835	KIF22	HP:0000252	Microcephaly	-	OMIM:615777
3835	KIF22	HP:0001552	Barrel-shaped chest	-	OMIM:143095
3835	KIF22	HP:0000218	High palate	-	OMIM:143095
3835	KIF22	HP:0002857	Genu valgum	-	OMIM:131300
3835	KIF22	HP:0002857	Genu valgum	-	OMIM:143095
3835	KIF22	HP:0002857	Genu valgum	4/8	OMIM:603546
3835	KIF22	HP:0002857	Genu valgum	HP:0040282	ORPHA:93360
3835	KIF22	HP:0001533	Slender build	-	OMIM:131300
3835	KIF22	HP:0000204	Cleft upper lip	-	OMIM:150250
3835	KIF22	HP:0031367	Metaphyseal striations	HP:0040282	ORPHA:93360
3835	KIF22	HP:0030043	Hip subluxation	HP:0040283	ORPHA:93360
3835	KIF22	HP:0001518	Small for gestational age	HP:0040282	ORPHA:93360
3835	KIF22	HP:0001511	Intrauterine growth retardation	-	OMIM:150250
3835	KIF22	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3835	KIF22	HP:0007807	Optic nerve compression	-	OMIM:131300
3835	KIF22	HP:0012368	Flat face	7/7	OMIM:615777
3835	KIF22	HP:0012368	Flat face	HP:0040282	ORPHA:93360
3835	KIF22	HP:0012368	Flat face	-	OMIM:150250
3835	KIF22	HP:0006536	Airway obstruction	HP:0040283	ORPHA:93360
3835	KIF22	HP:0002938	Lumbar hyperlordosis	-	OMIM:143095
3835	KIF22	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3835	KIF22	HP:0001602	Laryngeal stenosis	HP:0040282	ORPHA:93360
3835	KIF22	HP:0002948	Vertebral fusion	8/16	OMIM:150250
3835	KIF22	HP:0002947	Cervical kyphosis	-	OMIM:150250
3835	KIF22	HP:0002945	Intervertebral space narrowing	9/9	OMIM:143095
3835	KIF22	HP:0005180	Tricuspid regurgitation	-	OMIM:143095
3835	KIF22	HP:0000365	Hearing impairment	-	OMIM:143095
3835	KIF22	HP:0000365	Hearing impairment	10/67	OMIM:131300
3835	KIF22	HP:0000365	Hearing impairment	4/19	OMIM:150250
3835	KIF22	HP:0000343	Long philtrum	HP:0040282	OMIM:143095
3835	KIF22	HP:0000343	Long philtrum	1/7	OMIM:615777
3835	KIF22	HP:0011001	Increased bone mineral density	-	OMIM:131300
3835	KIF22	HP:0000337	Broad forehead	HP:0040282	OMIM:143095
3835	KIF22	HP:0002982	Tibial bowing	-	OMIM:143095
3835	KIF22	HP:0001650	Aortic valve stenosis	-	OMIM:143095
3835	KIF22	HP:0000316	Hypertelorism	-	OMIM:143095
3835	KIF22	HP:0000316	Hypertelorism	-	OMIM:150250
3835	KIF22	HP:0000311	Round face	2/7	OMIM:615777
3835	KIF22	HP:0001642	Pulmonic stenosis	-	OMIM:143095
3835	KIF22	HP:0001659	Aortic regurgitation	-	OMIM:143095
3835	KIF22	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:93360
3835	KIF22	HP:0001653	Mitral regurgitation	-	OMIM:143095
3835	KIF22	HP:0001629	Ventricular septal defect	-	OMIM:143095
3835	KIF22	HP:0001629	Ventricular septal defect	-	OMIM:150250
3835	KIF22	HP:0001623	Breech presentation	3/6	OMIM:143095
3835	KIF22	HP:0002970	Genu varum	HP:0040282	ORPHA:93360
3835	KIF22	HP:0002970	Genu varum	2/8	OMIM:603546
3835	KIF22	HP:0002970	Genu varum	-	OMIM:615777
3835	KIF22	HP:0002967	Cubitus valgus	-	OMIM:143095
3835	KIF22	HP:0001631	Atrial septal defect	-	OMIM:150250
3835	KIF22	HP:0000303	Mandibular prognathia	-	OMIM:131300
3835	KIF22	HP:0007957	Corneal opacity	-	OMIM:150250
3835	KIF22	HP:0006610	Wide intermamillary distance	-	OMIM:143095
3835	KIF22	HP:0000405	Conductive hearing impairment	-	OMIM:150250
3835	KIF22	HP:0001718	Mitral stenosis	-	OMIM:143095
3835	KIF22	HP:0001714	Ventricular hypertrophy	-	OMIM:143095
3835	KIF22	HP:0005280	Depressed nasal bridge	-	OMIM:150250
3835	KIF22	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3835	KIF22	HP:0000486	Strabismus	HP:0040283	ORPHA:93360
3835	KIF22	HP:0000470	Short neck	-	OMIM:143095
3835	KIF22	HP:0000470	Short neck	1/7	OMIM:615777
3835	KIF22	HP:0001799	Short nail	-	OMIM:150250
3835	KIF22	HP:0001772	Talipes equinovalgus	-	OMIM:150250
3835	KIF22	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3835	KIF22	HP:0001763	Pes planus	-	OMIM:143095
3835	KIF22	HP:0001763	Pes planus	1/7	OMIM:615777
3835	KIF22	HP:0001762	Talipes equinovarus	6/6	OMIM:143095
3835	KIF22	HP:0001762	Talipes equinovarus	15/20	OMIM:150250
3835	KIF22	HP:0001840	Metatarsus adductus	-	OMIM:615777
3835	KIF22	HP:0000520	Proptosis	2/4	OMIM:131300
3835	KIF22	HP:0000520	Proptosis	7/7	OMIM:615777
3835	KIF22	HP:0001832	Abnormal metatarsal morphology	HP:0040282	ORPHA:93360
3835	KIF22	HP:0000592	Blue sclerae	2/7	OMIM:615777
3835	KIF22	HP:0000586	Shallow orbits	-	OMIM:150250
3835	KIF22	HP:0011220	Prominent forehead	-	OMIM:150250
3835	KIF22	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3835	KIF22	HP:0012514	Lower limb pain	4/4	OMIM:131300
3839	KPNA3	HP:0010871	Sensory ataxia	1/2	OMIM:620106
3839	KPNA3	HP:0001270	Motor delay	8/8	OMIM:620106
3839	KPNA3	HP:0001288	Gait disturbance	HP:0040283	ORPHA:171612
3839	KPNA3	HP:0001250	Seizure	-	ORPHA:171612
3839	KPNA3	HP:0007350	Upper limb hyperreflexia	HP:0040283	ORPHA:171612
3839	KPNA3	HP:0007340	Lower limb muscle weakness	2/2	OMIM:620106
3839	KPNA3	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:171612
3839	KPNA3	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:171612
3839	KPNA3	HP:0033725	Thin corpus callosum	1/2	OMIM:620106
3839	KPNA3	HP:0000012	Urinary urgency	HP:0040283	ORPHA:171612
3839	KPNA3	HP:0000006	Autosomal dominant inheritance	-	OMIM:620106
3839	KPNA3	HP:0001321	Cerebellar hypoplasia	1/7	OMIM:620106
3839	KPNA3	HP:0100561	Spinal cord lesion	HP:0040282	ORPHA:171612
3839	KPNA3	HP:0003394	Muscle spasm	HP:0040283	ORPHA:171612
3839	KPNA3	HP:0002064	Spastic gait	HP:0040283	ORPHA:171612
3839	KPNA3	HP:0002061	Lower limb spasticity	2/2	OMIM:620106
3839	KPNA3	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:171612
3839	KPNA3	HP:0003487	Babinski sign	2/2	OMIM:620106
3839	KPNA3	HP:0003487	Babinski sign	HP:0040282	ORPHA:171612
3839	KPNA3	HP:0002119	Ventriculomegaly	1/2	OMIM:620106
3839	KPNA3	HP:0003457	EMG abnormality	-	ORPHA:171612
3839	KPNA3	HP:0002169	Clonus	HP:0040283	ORPHA:171612
3839	KPNA3	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:171612
3839	KPNA3	HP:0003593	Infantile onset	10/10	OMIM:620106
3839	KPNA3	HP:0003552	Muscle stiffness	2/2	OMIM:620106
3839	KPNA3	HP:0007020	Progressive spastic paraplegia	HP:0040281	ORPHA:171612
3839	KPNA3	HP:0007018	Attention deficit hyperactivity disorder	1/2	OMIM:620106
3839	KPNA3	HP:0007002	Motor axonal neuropathy	1/2	OMIM:620106
3839	KPNA3	HP:0002395	Lower limb hyperreflexia	2/2	OMIM:620106
3839	KPNA3	HP:0002365	Hypoplasia of the brainstem	1/7	OMIM:620106
3839	KPNA3	HP:0003676	Progressive	-	OMIM:620106
3839	KPNA3	HP:0002335	Agenesis of cerebellar vermis	1/7	OMIM:620106
3839	KPNA3	HP:0002317	Unsteady gait	2/2	OMIM:620106
3839	KPNA3	HP:0002314	Degeneration of the lateral corticospinal tracts	HP:0040281	ORPHA:171612
3839	KPNA3	HP:0031936	Delayed ability to walk	8/8	OMIM:620106
3839	KPNA3	HP:0000750	Delayed speech and language development	1/2	OMIM:620106
3839	KPNA3	HP:0011448	Ankle clonus	1/2	OMIM:620106
3839	KPNA3	HP:0012898	Abnormal lower-limb motor evoked potentials	-	ORPHA:171612
3839	KPNA3	HP:0012378	Fatigue	HP:0040283	ORPHA:171612
3839	KPNA3	HP:0002936	Distal sensory impairment	1/2	OMIM:620106
3839	KPNA3	HP:0002921	Abnormal cerebrospinal fluid morphology	-	ORPHA:171612
3839	KPNA3	HP:0001761	Pes cavus	HP:0040283	ORPHA:171612
3845	KRAS	HP:0001156	Brachydactyly	HP:0040283	ORPHA:648
3845	KRAS	HP:0001156	Brachydactyly	HP:0040282	ORPHA:3339
3845	KRAS	HP:0001156	Brachydactyly	1/7	OMIM:609942
3845	KRAS	HP:0001167	Abnormal finger morphology	-	OMIM:163200
3845	KRAS	HP:0100955	Giant cell granuloma of mandible	1/2	OMIM:600268
3845	KRAS	HP:0001140	Limbal dermoid	HP:0040281	ORPHA:3339
3845	KRAS	HP:0001140	Limbal dermoid	12/12	OMIM:600268
3845	KRAS	HP:0001123	Visual field defect	HP:0040283	ORPHA:144
3845	KRAS	HP:0002445	Tetraplegia	HP:0040283	ORPHA:2396
3845	KRAS	HP:0010946	Dilatation of the renal pelvis	HP:0040283	ORPHA:648
3845	KRAS	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:144
3845	KRAS	HP:0009891	Underdeveloped supraorbital ridges	HP:0040281	ORPHA:1340
3845	KRAS	HP:0003745	Sporadic	-	OMIM:163200
3845	KRAS	HP:0003764	Nevus	-	OMIM:163200
3845	KRAS	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3845	KRAS	HP:0002408	Cerebral arteriovenous malformation	-	OMIM:108010
3845	KRAS	HP:0001293	Cranial nerve compression	-	OMIM:131300
3845	KRAS	HP:0001276	Hypertonia	HP:0040282	ORPHA:144
3845	KRAS	HP:0001276	Hypertonia	HP:0040282	ORPHA:2396
3845	KRAS	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2396
3845	KRAS	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:3339
3845	KRAS	HP:0100827	Increased total lymphocyte count	-	OMIM:614470
3845	KRAS	HP:0001269	Hemiparesis	HP:0040283	ORPHA:2396
3845	KRAS	HP:0001288	Gait disturbance	HP:0040283	ORPHA:144
3845	KRAS	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:144
3845	KRAS	HP:0001250	Seizure	HP:0040281	ORPHA:2396
3845	KRAS	HP:0001250	Seizure	HP:0040282	ORPHA:144
3845	KRAS	HP:0001250	Seizure	-	OMIM:163200
3845	KRAS	HP:0001250	Seizure	HP:0040281	ORPHA:2612
3845	KRAS	HP:0001250	Seizure	-	OMIM:600268
3845	KRAS	HP:0001250	Seizure	1/7	OMIM:609942
3845	KRAS	HP:0001252	Hypotonia	HP:0040282	ORPHA:648
3845	KRAS	HP:0001252	Hypotonia	HP:0040282	ORPHA:3339
3845	KRAS	HP:0001252	Hypotonia	HP:0040282	ORPHA:144
3845	KRAS	HP:0001252	Hypotonia	HP:0040281	ORPHA:2612
3845	KRAS	HP:0001252	Hypotonia	HP:0040281	ORPHA:1340
3845	KRAS	HP:0001252	Hypotonia	2/7	OMIM:615777
3845	KRAS	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2396
3845	KRAS	HP:0001249	Intellectual disability	HP:0040283	ORPHA:648
3845	KRAS	HP:0001249	Intellectual disability	-	OMIM:163200
3845	KRAS	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2612
3845	KRAS	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1340
3845	KRAS	HP:0001249	Intellectual disability	5/7	OMIM:615777
3845	KRAS	HP:0001249	Intellectual disability	7/7	OMIM:609942
3845	KRAS	HP:0001260	Dysarthria	HP:0040283	ORPHA:144
3845	KRAS	HP:0001260	Dysarthria	HP:0040281	ORPHA:648
3845	KRAS	HP:0001260	Dysarthria	HP:0040283	ORPHA:1340
3845	KRAS	HP:0001263	Global developmental delay	-	OMIM:615278
3845	KRAS	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2396
3845	KRAS	HP:0001263	Global developmental delay	0/2	OMIM:600268
3845	KRAS	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1340
3845	KRAS	HP:0001263	Global developmental delay	-	OMIM:615777
3845	KRAS	HP:0001263	Global developmental delay	9/9	OMIM:609942
3845	KRAS	HP:0001257	Spasticity	HP:0040282	ORPHA:2396
3845	KRAS	HP:0002558	Supernumerary nipple	-	OMIM:600268
3845	KRAS	HP:0007440	Generalized hyperpigmentation	HP:0040282	ORPHA:1340
3845	KRAS	HP:0007440	Generalized hyperpigmentation	HP:0040281	ORPHA:3339
3845	KRAS	HP:0008749	Laryngeal hypoplasia	HP:0040282	ORPHA:3339
3845	KRAS	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:1340
3845	KRAS	HP:0007400	Irregular hyperpigmentation	HP:0040282	ORPHA:2612
3845	KRAS	HP:0007392	Excessive wrinkled skin	HP:0040281	ORPHA:1340
3845	KRAS	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2612
3845	KRAS	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:2612
3845	KRAS	HP:0002515	Waddling gait	54/102	OMIM:131300
3845	KRAS	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:144
3845	KRAS	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:2612
3845	KRAS	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:2396
3845	KRAS	HP:0000085	Horseshoe kidney	-	OMIM:163200
3845	KRAS	HP:0012062	Bone cyst	HP:0040282	ORPHA:2396
3845	KRAS	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:648
3845	KRAS	HP:0000069	Abnormality of the ureter	HP:0040282	ORPHA:3339
3845	KRAS	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:648
3845	KRAS	HP:0001371	Flexion contracture	HP:0040283	ORPHA:144
3845	KRAS	HP:0000036	Abnormal penis morphology	HP:0040283	ORPHA:3339
3845	KRAS	HP:0000039	Epispadias	HP:0040283	ORPHA:3339
3845	KRAS	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:648
3845	KRAS	HP:0001382	Joint hypermobility	-	OMIM:615777
3845	KRAS	HP:0000047	Hypospadias	HP:0040283	ORPHA:3339
3845	KRAS	HP:0000014	Abnormality of the bladder	HP:0040283	ORPHA:3339
3845	KRAS	HP:0025318	Ovarian carcinoma	HP:0040283	ORPHA:1333
3845	KRAS	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:2612
3845	KRAS	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3845	KRAS	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:2612
3845	KRAS	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:648
3845	KRAS	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1340
3845	KRAS	HP:0000028	Cryptorchidism	3/8	OMIM:609942
3845	KRAS	HP:0007565	Multiple cafe-au-lait spots	HP:0040282	ORPHA:1340
3845	KRAS	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3845	KRAS	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:648
3845	KRAS	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:1340
3845	KRAS	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:648
3845	KRAS	HP:0006191	Deep palmar crease	HP:0040282	ORPHA:1340
3845	KRAS	HP:0006191	Deep palmar crease	0/7	OMIM:609942
3845	KRAS	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:648
3845	KRAS	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:2396
3845	KRAS	HP:0001331	Absent septum pellucidum	HP:0040281	ORPHA:3339
3845	KRAS	HP:0001328	Specific learning disability	HP:0040283	ORPHA:648
3845	KRAS	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3845	KRAS	HP:0001324	Muscle weakness	HP:0040281	ORPHA:648
3845	KRAS	HP:0001324	Muscle weakness	40/96	OMIM:131300
3845	KRAS	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3845	KRAS	HP:0002671	Basal cell carcinoma	-	OMIM:163200
3845	KRAS	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:144
3845	KRAS	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3845	KRAS	HP:0002665	Lymphoma	-	OMIM:614470
3845	KRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:615278
3845	KRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
3845	KRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:109800
3845	KRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
3845	KRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
3845	KRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:609942
3845	KRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:614470
3845	KRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:211980
3845	KRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3845	KRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:260350
3845	KRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:600268
3845	KRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:601626
3845	KRAS	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:2612
3845	KRAS	HP:0001305	Dandy-Walker malformation	0/7	OMIM:609942
3845	KRAS	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:2396
3845	KRAS	HP:0002650	Scoliosis	HP:0040282	ORPHA:648
3845	KRAS	HP:0002650	Scoliosis	12/14	OMIM:131300
3845	KRAS	HP:0002650	Scoliosis	HP:0040282	ORPHA:1340
3845	KRAS	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:2612
3845	KRAS	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3845	KRAS	HP:0002619	Varicose veins	-	OMIM:153400
3845	KRAS	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3845	KRAS	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3845	KRAS	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:144
3845	KRAS	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:648
3845	KRAS	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3845	KRAS	HP:0012157	Subcortical cerebral atrophy	HP:0040282	ORPHA:2396
3845	KRAS	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:1340
3845	KRAS	HP:0000175	Cleft palate	5/39	OMIM:153400
3845	KRAS	HP:0000175	Cleft palate	2/7	OMIM:615777
3845	KRAS	HP:0012126	Stomach cancer	-	OMIM:613659
3845	KRAS	HP:0002797	Osteolysis	HP:0040282	ORPHA:2396
3845	KRAS	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:2396
3845	KRAS	HP:0012118	Laryngeal carcinoma	HP:0040283	ORPHA:144
3845	KRAS	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:144
3845	KRAS	HP:0410067	Increased level of L-fucose in urine	-	OMIM:613659
3845	KRAS	HP:0410067	Increased level of L-fucose in urine	-	OMIM:260350
3845	KRAS	HP:0007572	Hyperpigmented streaks	2/2	OMIM:600268
3845	KRAS	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1340
3845	KRAS	HP:0002763	Abnormal cartilage morphology	HP:0040283	ORPHA:2396
3845	KRAS	HP:0002757	Recurrent fractures	-	OMIM:163200
3845	KRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:601626
3845	KRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:260350
3845	KRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:109800
3845	KRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:613659
3845	KRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:163200
3845	KRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:108010
3845	KRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:614470
3845	KRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
3845	KRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:211980
3845	KRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:600268
3845	KRAS	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:1333
3845	KRAS	HP:0002731	Decreased T cell apoptosis	-	OMIM:614470
3845	KRAS	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:144
3845	KRAS	HP:0002751	Kyphoscoliosis	-	OMIM:163200
3845	KRAS	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:648
3845	KRAS	HP:0002750	Delayed skeletal maturation	-	OMIM:609942
3845	KRAS	HP:0002719	Recurrent infections	HP:0040283	OMIM:614470
3845	KRAS	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:1333
3845	KRAS	HP:0002729	Follicular hyperplasia	-	OMIM:614470
3845	KRAS	HP:0002024	Malabsorption	HP:0040281	ORPHA:144
3845	KRAS	HP:0002019	Constipation	HP:0040281	ORPHA:144
3845	KRAS	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:144
3845	KRAS	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:1333
3845	KRAS	HP:0002027	Abdominal pain	HP:0040281	ORPHA:144
3845	KRAS	HP:0002027	Abdominal pain	HP:0040281	ORPHA:1333
3845	KRAS	HP:0002007	Frontal bossing	HP:0040281	ORPHA:2612
3845	KRAS	HP:0002007	Frontal bossing	HP:0040282	ORPHA:1340
3845	KRAS	HP:0002007	Frontal bossing	1/2	OMIM:609942
3845	KRAS	HP:0011800	Midface retrusion	HP:0040281	ORPHA:648
3845	KRAS	HP:0002092	Pulmonary arterial hypertension	HP:0040282	ORPHA:2396
3845	KRAS	HP:0100555	Asymmetric growth	HP:0040281	ORPHA:2612
3845	KRAS	HP:0100559	Lower limb asymmetry	-	OMIM:600268
3845	KRAS	HP:0002063	Rigidity	HP:0040282	ORPHA:2396
3845	KRAS	HP:0002076	Migraine	HP:0040282	ORPHA:144
3845	KRAS	HP:0002039	Anorexia	HP:0040281	ORPHA:1333
3845	KRAS	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:2396
3845	KRAS	HP:0003388	Easy fatigability	36/76	OMIM:131300
3845	KRAS	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3845	KRAS	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:144
3845	KRAS	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:144
3845	KRAS	HP:0100592	Peritoneal abscess	HP:0040283	ORPHA:1333
3845	KRAS	HP:0003477	Peripheral axonal neuropathy	-	OMIM:615278
3845	KRAS	HP:0003470	Paralysis	HP:0040283	ORPHA:2396
3845	KRAS	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:2396
3845	KRAS	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:1340
3845	KRAS	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:2612
3845	KRAS	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2396
3845	KRAS	HP:0002132	Porencephalic cyst	HP:0040282	ORPHA:2612
3845	KRAS	HP:0003422	Vertebral segmentation defect	HP:0040281	ORPHA:2612
3845	KRAS	HP:0003418	Back pain	HP:0040281	ORPHA:1333
3845	KRAS	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:144
3845	KRAS	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1340
3845	KRAS	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:2396
3845	KRAS	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:648
3845	KRAS	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:1340
3845	KRAS	HP:0002162	Low posterior hairline	0/7	OMIM:609942
3845	KRAS	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:648
3845	KRAS	HP:0011869	Abnormal platelet function	HP:0040282	ORPHA:648
3845	KRAS	HP:0010529	Echolalia	HP:0040282	ORPHA:2396
3845	KRAS	HP:0010526	Dysgraphia	HP:0040283	ORPHA:144
3845	KRAS	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:144
3845	KRAS	HP:0003401	Paresthesia	HP:0040283	ORPHA:144
3845	KRAS	HP:0003577	Congenital onset	2/2	OMIM:600268
3845	KRAS	HP:0003577	Congenital onset	2/2	OMIM:609942
3845	KRAS	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:648
3845	KRAS	HP:0002240	Hepatomegaly	-	OMIM:614470
3845	KRAS	HP:0100702	Arachnoid cyst	HP:0040283	OMIM:600268
3845	KRAS	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:144
3845	KRAS	HP:0002254	Intermittent diarrhea	HP:0040283	ORPHA:1333
3845	KRAS	HP:0003581	Adult onset	-	OMIM:260350
3845	KRAS	HP:0002251	Aganglionic megacolon	HP:0040282	ORPHA:3339
3845	KRAS	HP:0002223	Absent eyebrow	-	OMIM:615278
3845	KRAS	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:2396
3845	KRAS	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
3845	KRAS	HP:0200102	Sparse or absent eyelashes	HP:0040282	ORPHA:1340
3845	KRAS	HP:0002217	Slow-growing hair	HP:0040282	ORPHA:1340
3845	KRAS	HP:0002212	Curly hair	-	OMIM:615278
3845	KRAS	HP:0002213	Fine hair	HP:0040281	ORPHA:1340
3845	KRAS	HP:0002213	Fine hair	-	OMIM:615278
3845	KRAS	HP:0002208	Coarse hair	HP:0040282	ORPHA:648
3845	KRAS	HP:0002205	Recurrent respiratory infections	HP:0040283	OMIM:614470
3845	KRAS	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:648
3845	KRAS	HP:0009743	Distichiasis	42/42	OMIM:153400
3845	KRAS	HP:0010702	Increased circulating immunoglobulin concentration	-	OMIM:614470
3845	KRAS	HP:0009720	Adenoma sebaceum	HP:0040281	ORPHA:2612
3845	KRAS	HP:0009720	Adenoma sebaceum	HP:0040281	ORPHA:144
3845	KRAS	HP:0009726	Renal neoplasm	HP:0040283	ORPHA:144
3845	KRAS	HP:0009725	Bladder neoplasm	-	OMIM:109800
3845	KRAS	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:144
3845	KRAS	HP:0002299	Brittle hair	HP:0040281	ORPHA:1340
3845	KRAS	HP:0100761	Visceral angiomatosis	HP:0040282	ORPHA:2396
3845	KRAS	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:1340
3845	KRAS	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:144
3845	KRAS	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:3339
3845	KRAS	HP:0011968	Feeding difficulties	1/7	OMIM:609942
3845	KRAS	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:144
3845	KRAS	HP:0010622	Neoplasm of the skeletal system	HP:0040282	ORPHA:2396
3845	KRAS	HP:0003510	Severe short stature	7/7	OMIM:615777
3845	KRAS	HP:0007099	Chiari type I malformation	1/2	OMIM:609942
3845	KRAS	HP:0004808	Acute myeloid leukemia	-	OMIM:601626
3845	KRAS	HP:0008391	Dystrophic fingernails	HP:0040282	ORPHA:1340
3845	KRAS	HP:0001057	Aplasia cutis congenita	2/2	OMIM:600268
3845	KRAS	HP:0001052	Nevus flammeus	HP:0040282	ORPHA:2396
3845	KRAS	HP:0002381	Aphasia	HP:0040282	ORPHA:2396
3845	KRAS	HP:0001048	Cavernous hemangioma	HP:0040281	ORPHA:2612
3845	KRAS	HP:0001048	Cavernous hemangioma	HP:0040282	ORPHA:1340
3845	KRAS	HP:0001028	Hemangioma	-	OMIM:163200
3845	KRAS	HP:0002376	Developmental regression	HP:0040283	ORPHA:144
3845	KRAS	HP:0001012	Multiple lipomas	HP:0040281	ORPHA:2396
3845	KRAS	HP:0001010	Hypopigmentation of the skin	-	OMIM:163200
3845	KRAS	HP:0001004	Lymphedema	HP:0040283	ORPHA:1340
3845	KRAS	HP:0001004	Lymphedema	HP:0040283	ORPHA:648
3845	KRAS	HP:0001004	Lymphedema	-	OMIM:600268
3845	KRAS	HP:0001004	Lymphedema	-	OMIM:153400
3845	KRAS	HP:0002353	EEG abnormality	HP:0040281	ORPHA:2612
3845	KRAS	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1340
3845	KRAS	HP:0002354	Memory impairment	HP:0040283	ORPHA:144
3845	KRAS	HP:0002315	Headache	-	OMIM:131300
3845	KRAS	HP:0004976	Knee dislocation	6/7	OMIM:615777
3845	KRAS	HP:0001003	Multiple lentigines	HP:0040282	ORPHA:1340
3845	KRAS	HP:0002326	Transient ischemic attack	-	OMIM:600268
3845	KRAS	HP:0007206	Hemimegalencephaly	-	OMIM:163200
3845	KRAS	HP:0100660	Dyskinesia	HP:0040283	ORPHA:144
3845	KRAS	HP:0100658	Cellulitis	2/6	OMIM:153400
3845	KRAS	HP:0010816	Epidermal nevus	-	OMIM:600268
3845	KRAS	HP:0010815	Nevus sebaceous	-	OMIM:163200
3845	KRAS	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:144
3845	KRAS	HP:0010817	Linear nevus sebaceous	-	OMIM:163200
3845	KRAS	HP:0100684	Salivary gland neoplasm	HP:0040283	ORPHA:144
3845	KRAS	HP:0100615	Ovarian neoplasm	HP:0040283	ORPHA:144
3845	KRAS	HP:0100613	Death in early adulthood	HP:0040282	ORPHA:144
3845	KRAS	HP:0100625	Enlarged thorax	HP:0040281	ORPHA:648
3845	KRAS	HP:0009803	Short phalanx of finger	-	OMIM:615777
3845	KRAS	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:144
3845	KRAS	HP:0009763	Limb pain	63/92	OMIM:131300
3845	KRAS	HP:0002300	Mutism	HP:0040282	ORPHA:2396
3845	KRAS	HP:0002301	Hemiplegia	HP:0040283	ORPHA:2396
3845	KRAS	HP:0003621	Juvenile onset	-	OMIM:131300
3845	KRAS	HP:0004912	Hypophosphatemic rickets	-	OMIM:163200
3845	KRAS	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3845	KRAS	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:648
3845	KRAS	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
3845	KRAS	HP:0005523	Lymphoproliferative disorder	-	OMIM:614470
3845	KRAS	HP:0004279	Short palm	HP:0040282	ORPHA:3339
3845	KRAS	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3845	KRAS	HP:0000639	Nystagmus	-	OMIM:600268
3845	KRAS	HP:0000639	Nystagmus	HP:0040283	ORPHA:648
3845	KRAS	HP:0000639	Nystagmus	HP:0040282	ORPHA:1340
3845	KRAS	HP:0000639	Nystagmus	1/12	OMIM:609942
3845	KRAS	HP:0000635	Blue irides	HP:0040282	ORPHA:648
3845	KRAS	HP:0000637	Long palpebral fissure	HP:0040281	ORPHA:1340
3845	KRAS	HP:6001056	Out-toeing	-	OMIM:131300
3845	KRAS	HP:0000651	Diplopia	-	OMIM:131300
3845	KRAS	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1340
3845	KRAS	HP:0001973	Autoimmune thrombocytopenia	-	OMIM:614470
3845	KRAS	HP:0000613	Photophobia	10/49	OMIM:153400
3845	KRAS	HP:0000612	Iris coloboma	HP:0040281	ORPHA:2612
3845	KRAS	HP:0000612	Iris coloboma	HP:0040282	ORPHA:2396
3845	KRAS	HP:0000614	Abnormal nasolacrimal system morphology	HP:0040282	ORPHA:2396
3845	KRAS	HP:0000625	Eyelid coloboma	-	OMIM:600268
3845	KRAS	HP:0000625	Eyelid coloboma	HP:0040283	ORPHA:3339
3845	KRAS	HP:0001956	Truncal obesity	2/7	OMIM:615777
3845	KRAS	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:648
3845	KRAS	HP:0000602	Ophthalmoplegia	HP:0040283	OMIM:163200
3845	KRAS	HP:0001909	Leukemia	-	OMIM:614470
3845	KRAS	HP:0001903	Anemia	HP:0040283	OMIM:131300
3845	KRAS	HP:0010049	Short metacarpal	-	OMIM:615777
3845	KRAS	HP:0011381	Aplasia of the semicircular canal	HP:0040283	ORPHA:648
3845	KRAS	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
3845	KRAS	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:648
3845	KRAS	HP:0012683	Pineal cyst	1/2	OMIM:600268
3845	KRAS	HP:0000678	Dental crowding	-	OMIM:615777
3845	KRAS	HP:0011321	Left unilambdoid synostosis	1/2	OMIM:609942
3845	KRAS	HP:0000656	Ectropion	2/43	OMIM:153400
3845	KRAS	HP:0000670	Carious teeth	-	OMIM:131300
3845	KRAS	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:3339
3845	KRAS	HP:0011304	Broad thumb	2/7	OMIM:615777
3845	KRAS	HP:0000668	Hypodontia	-	OMIM:615777
3845	KRAS	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:3339
3845	KRAS	HP:0000664	Synophrys	-	OMIM:615777
3845	KRAS	HP:0004322	Short stature	HP:0040281	ORPHA:648
3845	KRAS	HP:0004322	Short stature	-	OMIM:163200
3845	KRAS	HP:0004322	Short stature	HP:0040281	ORPHA:1340
3845	KRAS	HP:0004322	Short stature	9/12	OMIM:609942
3845	KRAS	HP:0003002	Breast carcinoma	-	OMIM:114480
3845	KRAS	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:144
3845	KRAS	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:1333
3845	KRAS	HP:0003003	Colon cancer	HP:0040282	ORPHA:144
3845	KRAS	HP:0003003	Colon cancer	HP:0040283	ORPHA:1333
3845	KRAS	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:3339
3845	KRAS	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:1340
3845	KRAS	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:648
3845	KRAS	HP:0004389	Intestinal pseudo-obstruction	HP:0040282	ORPHA:1333
3845	KRAS	HP:0004396	Poor appetite	-	OMIM:131300
3845	KRAS	HP:0004396	Poor appetite	HP:0040281	ORPHA:1333
3845	KRAS	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3845	KRAS	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3845	KRAS	HP:0004377	Hematological neoplasm	HP:0040283	ORPHA:144
3845	KRAS	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:144
3845	KRAS	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3845	KRAS	HP:0003011	Abnormality of the musculature	-	OMIM:153400
3845	KRAS	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:144
3845	KRAS	HP:0003026	Short long bone	7/7	OMIM:615777
3845	KRAS	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3845	KRAS	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:3339
3845	KRAS	HP:0000752	Hyperactivity	-	OMIM:600268
3845	KRAS	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:648
3845	KRAS	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:1340
3845	KRAS	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3845	KRAS	HP:0000767	Pectus excavatum	7/9	OMIM:609942
3845	KRAS	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3845	KRAS	HP:0000768	Pectus carinatum	1/12	OMIM:609942
3845	KRAS	HP:0000768	Pectus carinatum	HP:0040281	ORPHA:648
3845	KRAS	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:144
3845	KRAS	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3845	KRAS	HP:0000738	Hallucinations	HP:0040283	ORPHA:144
3845	KRAS	HP:0000737	Irritability	HP:0040282	ORPHA:144
3845	KRAS	HP:0000739	Anxiety	HP:0040282	ORPHA:144
3845	KRAS	HP:0000750	Delayed speech and language development	-	OMIM:615777
3845	KRAS	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040283	ORPHA:1340
3845	KRAS	HP:0000716	Depression	HP:0040282	ORPHA:144
3845	KRAS	HP:0000708	Atypical behavior	HP:0040282	ORPHA:144
3845	KRAS	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2396
3845	KRAS	HP:0011461	Fetal onset	7/7	OMIM:615777
3845	KRAS	HP:0009125	Lipodystrophy	HP:0040281	ORPHA:2396
3845	KRAS	HP:0000774	Narrow chest	2/7	OMIM:615777
3845	KRAS	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:648
3845	KRAS	HP:0012759	Neurodevelopmental abnormality	HP:0040281	ORPHA:2396
3845	KRAS	HP:0003115	Abnormal EKG	HP:0040281	ORPHA:648
3845	KRAS	HP:0004442	Sagittal craniosynostosis	2/7	OMIM:609942
3845	KRAS	HP:0003109	Hyperphosphaturia	HP:0040283	OMIM:163200
3845	KRAS	HP:0004422	Biparietal narrowing	HP:0040281	ORPHA:2612
3845	KRAS	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:1340
3845	KRAS	HP:0004415	Pulmonary artery stenosis	HP:0040281	ORPHA:648
3845	KRAS	HP:0030799	Scaphocephaly	-	OMIM:609942
3845	KRAS	HP:0003196	Short nose	HP:0040282	ORPHA:3339
3845	KRAS	HP:0003196	Short nose	HP:0040282	ORPHA:1340
3845	KRAS	HP:0003196	Short nose	1/2	OMIM:609942
3845	KRAS	HP:0000914	Shield chest	2/12	OMIM:609942
3845	KRAS	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:2396
3845	KRAS	HP:0000926	Platyspondyly	1/7	OMIM:615777
3845	KRAS	HP:0003180	Flat acetabular roof	-	OMIM:615777
3845	KRAS	HP:0004482	Relative macrocephaly	6/7	OMIM:609942
3845	KRAS	HP:0004482	Relative macrocephaly	-	OMIM:615777
3845	KRAS	HP:0004493	Craniofacial hyperostosis	HP:0040282	ORPHA:2396
3845	KRAS	HP:0004467	Preauricular pit	-	OMIM:187500
3845	KRAS	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3845	KRAS	HP:0012804	Corneal ulceration	-	OMIM:153400
3845	KRAS	HP:0012803	Anisometropia	-	OMIM:600268
3845	KRAS	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1333
3845	KRAS	HP:0000826	Precocious puberty	HP:0040283	OMIM:163200
3845	KRAS	HP:0000823	Delayed puberty	-	OMIM:131300
3845	KRAS	HP:0040071	Abnormal morphology of ulna	HP:0040282	ORPHA:1340
3845	KRAS	HP:0000894	Short clavicles	-	OMIM:615777
3845	KRAS	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3845	KRAS	HP:0045075	Sparse eyebrow	0/7	OMIM:609942
3845	KRAS	HP:0000995	Melanocytic nevus	HP:0040281	ORPHA:2612
3845	KRAS	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:648
3845	KRAS	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:648
3845	KRAS	HP:0010310	Chylothorax	1/6	OMIM:153400
3845	KRAS	HP:0000978	Bruising susceptibility	1/5	OMIM:609942
3845	KRAS	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:648
3845	KRAS	HP:0000974	Hyperextensible skin	HP:0040282	ORPHA:1340
3845	KRAS	HP:0000991	Xanthomatosis	HP:0040281	ORPHA:2396
3845	KRAS	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:1340
3845	KRAS	HP:0011611	Interrupted aortic arch	HP:0040283	ORPHA:2396
3845	KRAS	HP:0000958	Dry skin	HP:0040281	ORPHA:1340
3845	KRAS	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3845	KRAS	HP:0000953	Hyperpigmentation of the skin	-	OMIM:600268
3845	KRAS	HP:0000952	Jaundice	HP:0040282	ORPHA:1333
3845	KRAS	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:1340
3845	KRAS	HP:0000938	Osteopenia	-	OMIM:163200
3845	KRAS	HP:0000938	Osteopenia	HP:0040283	ORPHA:648
3845	KRAS	HP:0000943	Dysostosis multiplex	HP:0040283	ORPHA:2396
3845	KRAS	HP:0008070	Sparse hair	-	OMIM:615278
3845	KRAS	HP:0008070	Sparse hair	HP:0040282	ORPHA:1340
3845	KRAS	HP:0008070	Sparse hair	2/7	OMIM:609942
3845	KRAS	HP:0008064	Ichthyosis	HP:0040282	ORPHA:1340
3845	KRAS	HP:0008064	Ichthyosis	-	OMIM:163200
3845	KRAS	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:3339
3845	KRAS	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:144
3845	KRAS	HP:0040188	Osteochondrosis	HP:0040283	ORPHA:2396
3845	KRAS	HP:0011675	Arrhythmia	-	OMIM:153400
3845	KRAS	HP:0011675	Arrhythmia	HP:0040282	ORPHA:648
3845	KRAS	HP:0000286	Epicanthus	-	OMIM:600268
3845	KRAS	HP:0000286	Epicanthus	HP:0040282	ORPHA:3339
3845	KRAS	HP:0000286	Epicanthus	HP:0040282	ORPHA:1340
3845	KRAS	HP:0000286	Epicanthus	1/7	OMIM:615777
3845	KRAS	HP:0000286	Epicanthus	1/2	OMIM:609942
3845	KRAS	HP:0000280	Coarse facial features	-	OMIM:615278
3845	KRAS	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1340
3845	KRAS	HP:0000280	Coarse facial features	2/7	OMIM:615777
3845	KRAS	HP:0000280	Coarse facial features	0/7	OMIM:609942
3845	KRAS	HP:0000293	Full cheeks	HP:0040281	ORPHA:1340
3845	KRAS	HP:0001596	Alopecia	HP:0040281	ORPHA:2612
3845	KRAS	HP:0001596	Alopecia	HP:0040281	ORPHA:2396
3845	KRAS	HP:0001596	Alopecia	-	OMIM:163200
3845	KRAS	HP:0000256	Macrocephaly	1/2	OMIM:600268
3845	KRAS	HP:0000256	Macrocephaly	HP:0040282	ORPHA:2396
3845	KRAS	HP:0000256	Macrocephaly	HP:0040282	ORPHA:3339
3845	KRAS	HP:0000256	Macrocephaly	HP:0040282	ORPHA:1340
3845	KRAS	HP:0000276	Long face	HP:0040281	ORPHA:1340
3845	KRAS	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:2396
3845	KRAS	HP:0000268	Dolichocephaly	1/2	OMIM:609942
3845	KRAS	HP:0000267	Cranial asymmetry	-	OMIM:163200
3845	KRAS	HP:0000269	Prominent occiput	HP:0040281	ORPHA:2612
3845	KRAS	HP:0007759	Opacification of the corneal stroma	HP:0040283	OMIM:600268
3845	KRAS	HP:0002816	Genu recurvatum	HP:0040281	ORPHA:2612
3845	KRAS	HP:0002827	Hip dislocation	3/7	OMIM:615777
3845	KRAS	HP:0030078	Lung adenocarcinoma	-	OMIM:211980
3845	KRAS	HP:0002808	Kyphosis	2/5	OMIM:153400
3845	KRAS	HP:0000242	Parietal bossing	HP:0040283	OMIM:600268
3845	KRAS	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:1340
3845	KRAS	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:144
3845	KRAS	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:1333
3845	KRAS	HP:0000252	Microcephaly	-	OMIM:615777
3845	KRAS	HP:0001582	Redundant skin	1/7	OMIM:609942
3845	KRAS	HP:0001582	Redundant skin	HP:0040283	ORPHA:1340
3845	KRAS	HP:0012209	Juvenile myelomonocytic leukemia	HP:0040283	ORPHA:648
3845	KRAS	HP:0012209	Juvenile myelomonocytic leukemia	1/5	OMIM:609942
3845	KRAS	HP:0001548	Overgrowth	-	OMIM:163200
3845	KRAS	HP:0000218	High palate	-	OMIM:615278
3845	KRAS	HP:0000218	High palate	HP:0040281	ORPHA:648
3845	KRAS	HP:0000218	High palate	HP:0040282	ORPHA:1340
3845	KRAS	HP:0000218	High palate	1/2	OMIM:609942
3845	KRAS	HP:0002894	Neoplasm of the pancreas	-	OMIM:260350
3845	KRAS	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:144
3845	KRAS	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:3339
3845	KRAS	HP:0001561	Polyhydramnios	1/2	OMIM:609942
3845	KRAS	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:144
3845	KRAS	HP:0002861	Melanoma	HP:0040283	ORPHA:1333
3845	KRAS	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:1340
3845	KRAS	HP:0001528	Hemihypertrophy	-	OMIM:163200
3845	KRAS	HP:0002857	Genu valgum	-	OMIM:131300
3845	KRAS	HP:0002857	Genu valgum	HP:0040283	ORPHA:1340
3845	KRAS	HP:0001522	Death in infancy	HP:0040282	ORPHA:144
3845	KRAS	HP:0001533	Slender build	-	OMIM:131300
3845	KRAS	HP:0000204	Cleft upper lip	-	OMIM:153400
3845	KRAS	HP:0001508	Failure to thrive	HP:0040282	ORPHA:3339
3845	KRAS	HP:0001508	Failure to thrive	1/7	OMIM:609942
3845	KRAS	HP:0002836	Bladder exstrophy	-	OMIM:600268
3845	KRAS	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3845	KRAS	HP:0001510	Growth delay	HP:0040283	ORPHA:2612
3845	KRAS	HP:0001510	Growth delay	1/2	OMIM:600268
3845	KRAS	HP:0001510	Growth delay	-	OMIM:163200
3845	KRAS	HP:0001510	Growth delay	HP:0040282	ORPHA:3339
3845	KRAS	HP:0007807	Optic nerve compression	-	OMIM:131300
3845	KRAS	HP:0011073	Abnormality of dental color	-	OMIM:163200
3845	KRAS	HP:0012378	Fatigue	HP:0040281	ORPHA:144
3845	KRAS	HP:0000384	Preauricular skin tag	2/2	OMIM:600268
3845	KRAS	HP:0012368	Flat face	7/7	OMIM:615777
3845	KRAS	HP:0000391	Thickened helices	HP:0040281	ORPHA:1340
3845	KRAS	HP:0000391	Thickened helices	HP:0040281	ORPHA:648
3845	KRAS	HP:0000391	Thickened helices	1/2	OMIM:609942
3845	KRAS	HP:0005249	Functional intestinal obstruction	HP:0040282	ORPHA:1333
3845	KRAS	HP:0006519	Alveolar cell carcinoma	-	OMIM:211980
3845	KRAS	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3845	KRAS	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:1333
3845	KRAS	HP:0006482	Abnormal dental morphology	-	OMIM:163200
3845	KRAS	HP:0000365	Hearing impairment	10/67	OMIM:131300
3845	KRAS	HP:0000365	Hearing impairment	HP:0040282	ORPHA:3339
3845	KRAS	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:1340
3845	KRAS	HP:0000358	Posteriorly rotated ears	-	OMIM:615278
3845	KRAS	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:648
3845	KRAS	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1340
3845	KRAS	HP:0000358	Posteriorly rotated ears	4/9	OMIM:609942
3845	KRAS	HP:0012334	Extrahepatic cholestasis	HP:0040282	ORPHA:1333
3845	KRAS	HP:0000369	Low-set ears	-	OMIM:615278
3845	KRAS	HP:0000369	Low-set ears	6/9	OMIM:609942
3845	KRAS	HP:0000343	Long philtrum	HP:0040282	ORPHA:1340
3845	KRAS	HP:0000343	Long philtrum	1/7	OMIM:615777
3845	KRAS	HP:0011001	Increased bone mineral density	-	OMIM:131300
3845	KRAS	HP:0000337	Broad forehead	-	OMIM:615278
3845	KRAS	HP:0000337	Broad forehead	-	OMIM:187500
3845	KRAS	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:2396
3845	KRAS	HP:0001680	Coarctation of aorta	-	OMIM:163200
3845	KRAS	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:648
3845	KRAS	HP:0001680	Coarctation of aorta	-	OMIM:600268
3845	KRAS	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:2396
3845	KRAS	HP:0000348	High forehead	HP:0040282	ORPHA:1340
3845	KRAS	HP:0000348	High forehead	HP:0040281	ORPHA:648
3845	KRAS	HP:0000347	Micrognathia	2/5	OMIM:153400
3845	KRAS	HP:0000347	Micrognathia	HP:0040281	ORPHA:648
3845	KRAS	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:2396
3845	KRAS	HP:0012311	Increased total monocyte count	-	OMIM:614470
3845	KRAS	HP:0000316	Hypertelorism	HP:0040281	ORPHA:648
3845	KRAS	HP:0000316	Hypertelorism	HP:0040282	ORPHA:1340
3845	KRAS	HP:0000316	Hypertelorism	9/9	OMIM:609942
3845	KRAS	HP:0001643	Patent ductus arteriosus	-	OMIM:600268
3845	KRAS	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:648
3845	KRAS	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
3845	KRAS	HP:0001643	Patent ductus arteriosus	-	OMIM:609942
3845	KRAS	HP:0000311	Round face	2/7	OMIM:615777
3845	KRAS	HP:0001642	Pulmonic stenosis	HP:0040281	ORPHA:1340
3845	KRAS	HP:0001642	Pulmonic stenosis	3/7	OMIM:609942
3845	KRAS	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:648
3845	KRAS	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:1340
3845	KRAS	HP:0000325	Triangular face	HP:0040281	ORPHA:648
3845	KRAS	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:2612
3845	KRAS	HP:0000324	Facial asymmetry	-	OMIM:600268
3845	KRAS	HP:0001655	Patent foramen ovale	1/2	OMIM:609942
3845	KRAS	HP:0002960	Autoimmunity	-	OMIM:614470
3845	KRAS	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
3845	KRAS	HP:0001629	Ventricular septal defect	1/5	OMIM:609942
3845	KRAS	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:3339
3845	KRAS	HP:0001622	Premature birth	HP:0040282	ORPHA:1340
3845	KRAS	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:648
3845	KRAS	HP:0002970	Genu varum	-	OMIM:615777
3845	KRAS	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:600268
3845	KRAS	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:1340
3845	KRAS	HP:0001639	Hypertrophic cardiomyopathy	2/12	OMIM:609942
3845	KRAS	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:648
3845	KRAS	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
3845	KRAS	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
3845	KRAS	HP:0002967	Cubitus valgus	1/7	OMIM:609942
3845	KRAS	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:1340
3845	KRAS	HP:0001631	Atrial septal defect	1/2	OMIM:600268
3845	KRAS	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:648
3845	KRAS	HP:0001631	Atrial septal defect	HP:0040281	ORPHA:1340
3845	KRAS	HP:0001631	Atrial septal defect	2/12	OMIM:609942
3845	KRAS	HP:0000303	Mandibular prognathia	-	OMIM:131300
3845	KRAS	HP:0001634	Mitral valve prolapse	-	OMIM:615278
3845	KRAS	HP:0001634	Mitral valve prolapse	2/5	OMIM:609942
3845	KRAS	HP:0007957	Corneal opacity	HP:0040282	ORPHA:2396
3845	KRAS	HP:0007957	Corneal opacity	HP:0040283	OMIM:163200
3845	KRAS	HP:0006610	Wide intermamillary distance	0/7	OMIM:609942
3845	KRAS	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:648
3845	KRAS	HP:0000499	Abnormal eyelash morphology	HP:0040281	ORPHA:1340
3845	KRAS	HP:0000499	Abnormal eyelash morphology	HP:0040282	ORPHA:2396
3845	KRAS	HP:0005306	Capillary hemangioma	HP:0040282	ORPHA:2396
3845	KRAS	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:1333
3845	KRAS	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:648
3845	KRAS	HP:0000400	Macrotia	HP:0040282	ORPHA:1340
3845	KRAS	HP:0001704	Tricuspid valve prolapse	HP:0040282	ORPHA:2396
3845	KRAS	HP:0001704	Tricuspid valve prolapse	1/5	OMIM:609942
3845	KRAS	HP:0005281	Hypoplastic nasal bridge	-	OMIM:609942
3845	KRAS	HP:0005280	Depressed nasal bridge	HP:0040283	OMIM:600268
3845	KRAS	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1340
3845	KRAS	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3845	KRAS	HP:0005280	Depressed nasal bridge	1/7	OMIM:609942
3845	KRAS	HP:0000483	Astigmatism	HP:0040283	OMIM:600268
3845	KRAS	HP:0000486	Strabismus	-	OMIM:600268
3845	KRAS	HP:0000486	Strabismus	HP:0040282	ORPHA:648
3845	KRAS	HP:0000486	Strabismus	HP:0040282	ORPHA:3339
3845	KRAS	HP:0000486	Strabismus	HP:0040282	ORPHA:1340
3845	KRAS	HP:0000486	Strabismus	8/14	OMIM:609942
3845	KRAS	HP:0000482	Microcornea	-	OMIM:600268
3845	KRAS	HP:0000476	Cystic hygroma	1/2	OMIM:609942
3845	KRAS	HP:0000476	Cystic hygroma	HP:0040281	ORPHA:648
3845	KRAS	HP:0000476	Cystic hygroma	2/43	OMIM:153400
3845	KRAS	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:2612
3845	KRAS	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:1340
3845	KRAS	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
3845	KRAS	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:648
3845	KRAS	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:1340
3845	KRAS	HP:0000494	Downslanted palpebral fissures	5/9	OMIM:609942
3845	KRAS	HP:0000492	Abnormal eyelid morphology	HP:0040282	ORPHA:2396
3845	KRAS	HP:0000488	Retinopathy	HP:0040281	ORPHA:2396
3845	KRAS	HP:0000463	Anteverted nares	-	OMIM:615278
3845	KRAS	HP:0000463	Anteverted nares	HP:0040282	ORPHA:3339
3845	KRAS	HP:0000463	Anteverted nares	HP:0040281	ORPHA:1340
3845	KRAS	HP:0000463	Anteverted nares	2/9	OMIM:609942
3845	KRAS	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
3845	KRAS	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:648
3845	KRAS	HP:0000470	Short neck	-	OMIM:600268
3845	KRAS	HP:0000470	Short neck	HP:0040282	ORPHA:1340
3845	KRAS	HP:0000470	Short neck	1/7	OMIM:615777
3845	KRAS	HP:0000470	Short neck	6/7	OMIM:609942
3845	KRAS	HP:0000465	Webbed neck	HP:0040282	ORPHA:1340
3845	KRAS	HP:0000465	Webbed neck	5/9	OMIM:609942
3845	KRAS	HP:0000465	Webbed neck	HP:0040281	ORPHA:648
3845	KRAS	HP:0000465	Webbed neck	6/43	OMIM:153400
3845	KRAS	HP:0012432	Chronic fatigue	HP:0040281	ORPHA:1333
3845	KRAS	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3845	KRAS	HP:0001763	Pes planus	1/7	OMIM:615777
3845	KRAS	HP:0001780	Abnormal toe morphology	-	OMIM:163200
3845	KRAS	HP:0001744	Splenomegaly	-	OMIM:614470
3845	KRAS	HP:0001743	Abnormality of the spleen	HP:0040282	ORPHA:648
3845	KRAS	HP:0000431	Wide nasal bridge	HP:0040283	OMIM:600268
3845	KRAS	HP:0006753	Neoplasm of the stomach	HP:0040282	ORPHA:144
3845	KRAS	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:109800
3845	KRAS	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:144
3845	KRAS	HP:0006725	Pancreatic adenocarcinoma	HP:0040280	ORPHA:1333
3845	KRAS	HP:0006758	Malignant genitourinary tract tumor	HP:0040283	ORPHA:144
3845	KRAS	HP:0001840	Metatarsus adductus	-	OMIM:615777
3845	KRAS	HP:0000520	Proptosis	2/4	OMIM:131300
3845	KRAS	HP:0000520	Proptosis	HP:0040282	ORPHA:3339
3845	KRAS	HP:0000520	Proptosis	-	OMIM:187500
3845	KRAS	HP:0000520	Proptosis	-	OMIM:600268
3845	KRAS	HP:0000520	Proptosis	7/7	OMIM:615777
3845	KRAS	HP:0000520	Proptosis	HP:0040281	ORPHA:648
3845	KRAS	HP:0001824	Weight loss	HP:0040281	ORPHA:144
3845	KRAS	HP:0001824	Weight loss	HP:0040281	ORPHA:1333
3845	KRAS	HP:0000506	Telecanthus	HP:0040281	ORPHA:2612
3845	KRAS	HP:0000506	Telecanthus	HP:0040282	ORPHA:3339
3845	KRAS	HP:0000509	Conjunctivitis	-	OMIM:153400
3845	KRAS	HP:0000508	Ptosis	-	OMIM:615278
3845	KRAS	HP:0000508	Ptosis	2/39	OMIM:153400
3845	KRAS	HP:0000508	Ptosis	HP:0040281	ORPHA:648
3845	KRAS	HP:0000508	Ptosis	HP:0040282	ORPHA:1340
3845	KRAS	HP:0000508	Ptosis	7/12	OMIM:609942
3845	KRAS	HP:0000502	Abnormal conjunctiva morphology	HP:0040281	ORPHA:3339
3845	KRAS	HP:0000505	Visual impairment	HP:0040283	ORPHA:144
3845	KRAS	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:2612
3845	KRAS	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:1340
3845	KRAS	HP:0000598	Abnormality of the ear	HP:0040282	ORPHA:3339
3845	KRAS	HP:0030358	Non-small cell lung carcinoma	-	OMIM:211980
3845	KRAS	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:3339
3845	KRAS	HP:0012569	Delayed menarche	HP:0040283	ORPHA:648
3845	KRAS	HP:0000592	Blue sclerae	2/7	OMIM:615777
3845	KRAS	HP:0000589	Coloboma	-	OMIM:163200
3845	KRAS	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:648
3845	KRAS	HP:0000568	Microphthalmia	HP:0040281	ORPHA:2612
3845	KRAS	HP:0000568	Microphthalmia	1/6	OMIM:153400
3845	KRAS	HP:0001869	Deep plantar creases	0/7	OMIM:609942
3845	KRAS	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3845	KRAS	HP:0000533	Chorioretinal atrophy	1/2	OMIM:600268
3845	KRAS	HP:0012514	Lower limb pain	4/4	OMIM:131300
3845	KRAS	HP:0001878	Hemolytic anemia	-	OMIM:614470
3845	KRAS	HP:0001876	Pancytopenia	-	OMIM:614470
3845	KRAS	HP:0000545	Myopia	-	OMIM:615278
3845	KRAS	HP:0000545	Myopia	HP:0040282	ORPHA:1340
3845	KRAS	HP:0001875	Decreased total neutrophil count	-	OMIM:614470
3848	KRT1	HP:0025114	Hypergranulosis	HP:0040283	ORPHA:2199
3848	KRT1	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:2199
3848	KRT1	HP:0007446	Palmoplantar blistering	HP:0040283	ORPHA:530838
3848	KRT1	HP:0007447	Diffuse palmoplantar hyperkeratosis	HP:0040281	ORPHA:79503
3848	KRT1	HP:0007447	Diffuse palmoplantar hyperkeratosis	HP:0040281	ORPHA:530838
3848	KRT1	HP:0007447	Diffuse palmoplantar hyperkeratosis	HP:0040282	ORPHA:2199
3848	KRT1	HP:0007404	Nonepidermolytic palmoplantar hyperkeratosis	-	OMIM:600962
3848	KRT1	HP:0007404	Nonepidermolytic palmoplantar hyperkeratosis	HP:0040280	ORPHA:530838
3848	KRT1	HP:0001220	Interphalangeal joint contracture of finger	HP:0040282	ORPHA:2199
3848	KRT1	HP:0001217	Clubbing	HP:0040282	ORPHA:2199
3848	KRT1	HP:0001371	Flexion contracture	HP:0040282	ORPHA:79503
3848	KRT1	HP:0006203	Decreased movement range in interphalangeal joints	HP:0040283	ORPHA:530838
3848	KRT1	HP:0007475	Congenital bullous ichthyosiform erythroderma	HP:0040281	ORPHA:312
3848	KRT1	HP:0007475	Congenital bullous ichthyosiform erythroderma	-	OMIM:113800
3848	KRT1	HP:0007460	Autoamputation of digits	HP:0040283	ORPHA:79503
3848	KRT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:113800
3848	KRT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:607654
3848	KRT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:113800
3848	KRT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:600962
3848	KRT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620411
3848	KRT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620148
3848	KRT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:146590
3848	KRT1	HP:0032523	Tendon thickening	HP:0040283	ORPHA:530838
3848	KRT1	HP:0032541	Knuckle pad	5/5	OMIM:146590
3848	KRT1	HP:0032541	Knuckle pad	HP:0040282	ORPHA:2199
3848	KRT1	HP:0032541	Knuckle pad	HP:0040283	ORPHA:530838
3848	KRT1	HP:0004690	Thickened Achilles tendon	HP:0040283	ORPHA:530838
3848	KRT1	HP:0011889	Bleeding with minor or no trauma	HP:0040283	ORPHA:79503
3848	KRT1	HP:0003577	Congenital onset	5/5	OMIM:620148
3848	KRT1	HP:0003577	Congenital onset	5/5	OMIM:146590
3848	KRT1	HP:0003577	Congenital onset	-	OMIM:600962
3848	KRT1	HP:0002212	Curly hair	0/1	OMIM:620411
3848	KRT1	HP:0100780	Conjunctival hamartoma	HP:0040283	ORPHA:312
3848	KRT1	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:79503
3848	KRT1	HP:0001030	Fragile skin	0/5	OMIM:146590
3848	KRT1	HP:0001047	Atopic dermatitis	HP:0040283	ORPHA:530838
3848	KRT1	HP:0001019	Erythroderma	HP:0040281	ORPHA:312
3848	KRT1	HP:0001019	Erythroderma	-	OMIM:113800
3848	KRT1	HP:0010830	Impaired tactile sensation	HP:0040283	ORPHA:2199
3848	KRT1	HP:0025092	Epidermal acanthosis	-	OMIM:113800
3848	KRT1	HP:0025092	Epidermal acanthosis	HP:0040282	ORPHA:2199
3848	KRT1	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:2199
3848	KRT1	HP:0200042	Skin ulcer	HP:0040283	ORPHA:312
3848	KRT1	HP:0200041	Skin erosion	4/4	OMIM:620148
3848	KRT1	HP:0010783	Erythema	4/4	OMIM:620148
3848	KRT1	HP:0010783	Erythema	HP:0040282	ORPHA:530838
3848	KRT1	HP:0010765	Palmar hyperkeratosis	HP:0040282	ORPHA:2199
3848	KRT1	HP:0009775	Amniotic constriction ring	2/5	OMIM:146590
3848	KRT1	HP:0004396	Poor appetite	HP:0040281	ORPHA:312
3848	KRT1	HP:0011463	Childhood onset	3/3	OMIM:620411
3848	KRT1	HP:0011463	Childhood onset	14/14	OMIM:607654
3848	KRT1	HP:0045059	Hyperkeratotic papule	5/5	OMIM:146590
3848	KRT1	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:2199
3848	KRT1	HP:0000972	Palmoplantar hyperkeratosis	4/4	OMIM:620148
3848	KRT1	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:113800
3848	KRT1	HP:0000972	Palmoplantar hyperkeratosis	HP:0040281	ORPHA:2199
3848	KRT1	HP:0000972	Palmoplantar hyperkeratosis	1/1	OMIM:620411
3848	KRT1	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:312
3848	KRT1	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:312
3848	KRT1	HP:0000982	Palmoplantar keratoderma	1/1	OMIM:620148
3848	KRT1	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:50942
3848	KRT1	HP:0000982	Palmoplantar keratoderma	5/5	OMIM:146590
3848	KRT1	HP:0000982	Palmoplantar keratoderma	14/14	OMIM:607654
3848	KRT1	HP:0000958	Dry skin	HP:0040282	ORPHA:530838
3848	KRT1	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:312
3848	KRT1	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:79503
3848	KRT1	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:2199
3848	KRT1	HP:0040162	Orthokeratosis	1/1	OMIM:620148
3848	KRT1	HP:0008064	Ichthyosis	HP:0040281	ORPHA:312
3848	KRT1	HP:0008064	Ichthyosis	1/1	OMIM:620148
3848	KRT1	HP:0008064	Ichthyosis	HP:0040281	ORPHA:79503
3848	KRT1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:312
3848	KRT1	HP:0008066	Abnormal blistering of the skin	1/1	OMIM:620148
3848	KRT1	HP:0008066	Abnormal blistering of the skin	-	OMIM:113800
3848	KRT1	HP:0008066	Abnormal blistering of the skin	0/5	OMIM:146590
3848	KRT1	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:2199
3848	KRT1	HP:0040189	Scaling skin	4/4	OMIM:620148
3848	KRT1	HP:0040189	Scaling skin	-	OMIM:113800
3848	KRT1	HP:0040189	Scaling skin	HP:0040283	ORPHA:530838
3848	KRT1	HP:0040189	Scaling skin	0/5	OMIM:146590
3848	KRT1	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:50942
3848	KRT1	HP:0001595	Abnormal hair morphology	0/14	OMIM:607654
3848	KRT1	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:50942
3848	KRT1	HP:0001597	Abnormal nail morphology	0/14	OMIM:607654
3848	KRT1	HP:0001598	Concave nail	HP:0040283	ORPHA:530838
3848	KRT1	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:79503
3848	KRT1	HP:0025524	Palmoplantar scaling skin	HP:0040283	ORPHA:530838
3848	KRT1	HP:0001551	Abnormal umbilicus morphology	HP:0040282	ORPHA:530838
3848	KRT1	HP:0012203	Onychomycosis	HP:0040282	ORPHA:530838
3848	KRT1	HP:0012385	Camptodactyly	HP:0040283	ORPHA:2199
3848	KRT1	HP:0001824	Weight loss	HP:0040281	ORPHA:312
3849	KRT2	HP:0007475	Congenital bullous ichthyosiform erythroderma	-	OMIM:146800
3849	KRT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:146800
3849	KRT2	HP:0100792	Acantholysis	HP:0040281	ORPHA:455
3849	KRT2	HP:0010783	Erythema	HP:0040283	ORPHA:455
3849	KRT2	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:455
3849	KRT2	HP:0000969	Edema	HP:0040281	ORPHA:455
3849	KRT2	HP:0000963	Thin skin	HP:0040281	ORPHA:455
3849	KRT2	HP:0008064	Ichthyosis	HP:0040281	ORPHA:455
3849	KRT2	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:455
3850	KRT3	HP:0009926	Epiphora	-	OMIM:618767
3850	KRT3	HP:0000006	Autosomal dominant inheritance	-	OMIM:618767
3850	KRT3	HP:0000613	Photophobia	-	OMIM:618767
3850	KRT3	HP:0000495	Recurrent corneal erosions	-	OMIM:618767
3851	KRT4	HP:0000006	Autosomal dominant inheritance	-	OMIM:193900
3851	KRT4	HP:0002745	Oral leukoplakia	8/8	OMIM:193900
3851	KRT4	HP:0000502	Abnormal conjunctiva morphology	0/8	OMIM:193900
3852	KRT5	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:79145
3852	KRT5	HP:0100806	Sepsis	1/1	OMIM:619599
3852	KRT5	HP:0100806	Sepsis	HP:0040283	ORPHA:79396
3852	KRT5	HP:0025238	Foot pain	HP:0040281	ORPHA:79400
3852	KRT5	HP:0001263	Global developmental delay	HP:0040283	ORPHA:79396
3852	KRT5	HP:0001263	Global developmental delay	1/1	OMIM:619599
3852	KRT5	HP:0001231	Abnormal fingernail morphology	HP:0040283	ORPHA:79145
3852	KRT5	HP:0007446	Palmoplantar blistering	1/1	OMIM:619555
3852	KRT5	HP:0007446	Palmoplantar blistering	18/18	OMIM:619588
3852	KRT5	HP:0007446	Palmoplantar blistering	21/21	OMIM:619594
3852	KRT5	HP:0007446	Palmoplantar blistering	HP:0040281	ORPHA:79400
3852	KRT5	HP:0007438	Mottled pigmentation of the trunk and proximal extremities	-	OMIM:131960
3852	KRT5	HP:0007427	Reticulated skin pigmentation	HP:0040281	ORPHA:79397
3852	KRT5	HP:0031045	Acral blistering	HP:0040282	ORPHA:158681
3852	KRT5	HP:0003819	Death in childhood	1/1	OMIM:619599
3852	KRT5	HP:0033802	Intra-epidermal blistering	-	OMIM:619555
3852	KRT5	HP:0033802	Intra-epidermal blistering	9/9	OMIM:609352
3852	KRT5	HP:0033802	Intra-epidermal blistering	12/12	OMIM:131960
3852	KRT5	HP:0001369	Arthritis	HP:0040284	ORPHA:79145
3852	KRT5	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:79396
3852	KRT5	HP:0007556	Plantar hyperkeratosis	HP:0040282	ORPHA:79397
3852	KRT5	HP:0007556	Plantar hyperkeratosis	HP:0040282	ORPHA:79399
3852	KRT5	HP:0007556	Plantar hyperkeratosis	HP:0040283	ORPHA:79400
3852	KRT5	HP:0007530	Punctate palmoplantar hyperkeratosis	-	OMIM:131960
3852	KRT5	HP:0007513	Generalized hypopigmentation	HP:0040282	ORPHA:158681
3852	KRT5	HP:0031180	Erythema migrans	HP:0040282	ORPHA:158681
3852	KRT5	HP:0031180	Erythema migrans	9/9	OMIM:609352
3852	KRT5	HP:0007494	Discrete 2 to 5-mm hyper- and hypopigmented macules	-	OMIM:131960
3852	KRT5	HP:0007497	Focal friction-related palmoplantar hyperkeratosis	HP:0040281	ORPHA:79400
3852	KRT5	HP:0007483	Depigmentation/hyperpigmentation of skin	HP:0040283	ORPHA:79396
3852	KRT5	HP:0007456	Progressive reticulate hyperpigmentation	-	OMIM:179850
3852	KRT5	HP:0007456	Progressive reticulate hyperpigmentation	HP:0040281	ORPHA:79145
3852	KRT5	HP:0000007	Autosomal recessive inheritance	-	OMIM:619599
3852	KRT5	HP:0000006	Autosomal dominant inheritance	-	OMIM:609352
3852	KRT5	HP:0000006	Autosomal dominant inheritance	-	OMIM:619555
3852	KRT5	HP:0000006	Autosomal dominant inheritance	-	OMIM:619588
3852	KRT5	HP:0000006	Autosomal dominant inheritance	-	OMIM:619594
3852	KRT5	HP:0000006	Autosomal dominant inheritance	-	OMIM:131760
3852	KRT5	HP:0000006	Autosomal dominant inheritance	-	OMIM:179850
3852	KRT5	HP:0000006	Autosomal dominant inheritance	-	OMIM:131960
3852	KRT5	HP:0025473	Hyperpigmented papule	HP:0040283	ORPHA:79145
3852	KRT5	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:79397
3852	KRT5	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:79399
3852	KRT5	HP:0008944	Distal lower limb amyotrophy	HP:0040283	ORPHA:79396
3852	KRT5	HP:0031293	Digital pitting scar	HP:0040283	ORPHA:79145
3852	KRT5	HP:0006297	Enamel hypoplasia	HP:0040282	ORPHA:79396
3852	KRT5	HP:0007599	Generalized reticulate brown pigmentation	HP:0040283	ORPHA:158681
3852	KRT5	HP:0007599	Generalized reticulate brown pigmentation	HP:0040282	ORPHA:79396
3852	KRT5	HP:0007585	Skin fragility with non-scarring blistering	HP:0040282	ORPHA:158681
3852	KRT5	HP:0007585	Skin fragility with non-scarring blistering	HP:0040281	ORPHA:79397
3852	KRT5	HP:0007585	Skin fragility with non-scarring blistering	HP:0040281	ORPHA:79399
3852	KRT5	HP:0007585	Skin fragility with non-scarring blistering	HP:0040281	ORPHA:79400
3852	KRT5	HP:0007589	Aplasia cutis congenita on trunk or limbs	HP:0040282	ORPHA:79396
3852	KRT5	HP:0002780	Bronchomalacia	HP:0040283	ORPHA:79396
3852	KRT5	HP:0002788	Recurrent upper respiratory tract infections	1/1	OMIM:619599
3852	KRT5	HP:0002719	Recurrent infections	HP:0040283	ORPHA:79396
3852	KRT5	HP:0003341	Lamina lucida cleavage	HP:0040282	ORPHA:158681
3852	KRT5	HP:0003341	Lamina lucida cleavage	HP:0040281	ORPHA:79397
3852	KRT5	HP:0003341	Lamina lucida cleavage	HP:0040281	ORPHA:79399
3852	KRT5	HP:0003341	Lamina lucida cleavage	HP:0040281	ORPHA:79400
3852	KRT5	HP:0002046	Heat intolerance	HP:0040283	ORPHA:79145
3852	KRT5	HP:0002046	Heat intolerance	HP:0040282	ORPHA:79400
3852	KRT5	HP:0003489	Acute episodes of neuropathic symptoms	HP:0040282	ORPHA:79400
3852	KRT5	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:79396
3852	KRT5	HP:0011937	Hypoplastic fifth toenail	2/2	OMIM:131960
3852	KRT5	HP:0002164	Nail dysplasia	-	OMIM:131960
3852	KRT5	HP:0002164	Nail dysplasia	HP:0040282	ORPHA:79397
3852	KRT5	HP:0003401	Paresthesia	HP:0040282	ORPHA:79400
3852	KRT5	HP:0003593	Infantile onset	2/2	OMIM:131960
3852	KRT5	HP:0003577	Congenital onset	13/13	OMIM:619555
3852	KRT5	HP:0003577	Congenital onset	-	OMIM:619588
3852	KRT5	HP:0003577	Congenital onset	3/3	OMIM:619599
3852	KRT5	HP:0003577	Congenital onset	1/1	OMIM:619594
3852	KRT5	HP:0003577	Congenital onset	2/5	OMIM:131760
3852	KRT5	HP:0003577	Congenital onset	9/14	OMIM:131960
3852	KRT5	HP:0008404	Nail dystrophy	1/1	OMIM:131760
3852	KRT5	HP:0008404	Nail dystrophy	-	ORPHA:158681
3852	KRT5	HP:0008404	Nail dystrophy	HP:0040284	ORPHA:79400
3852	KRT5	HP:0008404	Nail dystrophy	-	OMIM:131960
3852	KRT5	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:79396
3852	KRT5	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:79397
3852	KRT5	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:79399
3852	KRT5	HP:0009719	Hypomelanotic macule	HP:0040282	ORPHA:79397
3852	KRT5	HP:0009719	Hypomelanotic macule	HP:0040283	ORPHA:79399
3852	KRT5	HP:0200097	Oral mucosal blisters	14/14	OMIM:619555
3852	KRT5	HP:0200097	Oral mucosal blisters	3/3	OMIM:619599
3852	KRT5	HP:0200097	Oral mucosal blisters	1/1	OMIM:131760
3852	KRT5	HP:0200097	Oral mucosal blisters	-	ORPHA:158681
3852	KRT5	HP:0200097	Oral mucosal blisters	HP:0040284	ORPHA:79400
3852	KRT5	HP:0200097	Oral mucosal blisters	HP:0040282	ORPHA:79396
3852	KRT5	HP:0200097	Oral mucosal blisters	HP:0040283	ORPHA:79397
3852	KRT5	HP:0200097	Oral mucosal blisters	HP:0040283	ORPHA:79399
3852	KRT5	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:79396
3852	KRT5	HP:0010610	Palmar pits	HP:0040284	ORPHA:79145
3852	KRT5	HP:0020073	Hypopigmented macule	HP:0040284	ORPHA:79145
3852	KRT5	HP:0001056	Milia	-	OMIM:131760
3852	KRT5	HP:0001056	Milia	HP:0040284	ORPHA:79400
3852	KRT5	HP:0001056	Milia	HP:0040282	ORPHA:79396
3852	KRT5	HP:0001056	Milia	HP:0040283	ORPHA:79397
3852	KRT5	HP:0001056	Milia	HP:0040283	ORPHA:79399
3852	KRT5	HP:0001057	Aplasia cutis congenita	HP:0040282	ORPHA:79396
3852	KRT5	HP:0001034	Hypermelanotic macule	HP:0040283	ORPHA:79145
3852	KRT5	HP:0001034	Hypermelanotic macule	HP:0040282	ORPHA:79397
3852	KRT5	HP:0001034	Hypermelanotic macule	HP:0040283	ORPHA:79399
3852	KRT5	HP:0001036	Parakeratosis	HP:0040282	ORPHA:158681
3852	KRT5	HP:0001030	Fragile skin	HP:0040281	ORPHA:79396
3852	KRT5	HP:0001010	Hypopigmentation of the skin	HP:0040283	ORPHA:79396
3852	KRT5	HP:0200037	Skin vesicle	HP:0040282	ORPHA:158681
3852	KRT5	HP:0200037	Skin vesicle	HP:0040284	ORPHA:79145
3852	KRT5	HP:0200035	Skin plaque	HP:0040282	ORPHA:79400
3852	KRT5	HP:0200034	Papule	HP:0040284	ORPHA:79399
3852	KRT5	HP:0025088	Onychomadesis	1/1	OMIM:619594
3852	KRT5	HP:0001075	Atrophic scars	HP:0040283	OMIM:131760
3852	KRT5	HP:0001075	Atrophic scars	HP:0040284	ORPHA:79400
3852	KRT5	HP:0001075	Atrophic scars	HP:0040282	ORPHA:79396
3852	KRT5	HP:0001070	Mottled pigmentation	HP:0040281	ORPHA:79397
3852	KRT5	HP:0200040	Epidermoid cyst	HP:0040284	ORPHA:79145
3852	KRT5	HP:0200041	Skin erosion	HP:0040283	ORPHA:79400
3852	KRT5	HP:0010783	Erythema	HP:0040281	ORPHA:79396
3852	KRT5	HP:0010765	Palmar hyperkeratosis	HP:0040282	ORPHA:79397
3852	KRT5	HP:0010765	Palmar hyperkeratosis	HP:0040282	ORPHA:79399
3852	KRT5	HP:0010765	Palmar hyperkeratosis	HP:0040283	ORPHA:79400
3852	KRT5	HP:0100699	Scarring	HP:0040282	ORPHA:79396
3852	KRT5	HP:0003623	Neonatal onset	1/1	OMIM:619555
3852	KRT5	HP:0003623	Neonatal onset	-	OMIM:609352
3852	KRT5	HP:0003623	Neonatal onset	1/4	OMIM:131760
3852	KRT5	HP:0005590	Spotty hypopigmentation	HP:0040282	ORPHA:79397
3852	KRT5	HP:0005590	Spotty hypopigmentation	HP:0040282	ORPHA:79399
3852	KRT5	HP:0034067	Tonofilament clumping	2/2	OMIM:619555
3852	KRT5	HP:0034067	Tonofilament clumping	5/6	OMIM:131760
3852	KRT5	HP:0005585	Spotty hyperpigmentation	HP:0040282	ORPHA:158681
3852	KRT5	HP:0005585	Spotty hyperpigmentation	HP:0040282	ORPHA:79399
3852	KRT5	HP:0000613	Photophobia	HP:0040283	ORPHA:79396
3852	KRT5	HP:0001903	Anemia	HP:0040282	ORPHA:79396
3852	KRT5	HP:0011354	Generalized abnormality of skin	HP:0040284	ORPHA:79145
3852	KRT5	HP:0011354	Generalized abnormality of skin	HP:0040281	ORPHA:79396
3852	KRT5	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040283	ORPHA:79396
3852	KRT5	HP:0006934	Congenital nystagmus	HP:0040283	ORPHA:79396
3852	KRT5	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:79396
3852	KRT5	HP:0034193	Stratum basale cleavage	1/1	OMIM:619555
3852	KRT5	HP:0034193	Stratum basale cleavage	7/7	OMIM:131760
3852	KRT5	HP:0000768	Pectus carinatum	1/1	OMIM:619599
3852	KRT5	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040282	ORPHA:79396
3852	KRT5	HP:0011463	Childhood onset	2/4	OMIM:131760
3852	KRT5	HP:0011463	Childhood onset	5/14	OMIM:131960
3852	KRT5	HP:0009123	Mixed hypo- and hyperpigmentation of the skin	HP:0040281	ORPHA:79397
3852	KRT5	HP:0009123	Mixed hypo- and hyperpigmentation of the skin	HP:0040284	ORPHA:79145
3852	KRT5	HP:0009123	Mixed hypo- and hyperpigmentation of the skin	HP:0040283	ORPHA:79399
3852	KRT5	HP:0009123	Mixed hypo- and hyperpigmentation of the skin	-	ORPHA:79400
3852	KRT5	HP:0012855	Scrotal hyperpigmentation	HP:0040283	ORPHA:79145
3852	KRT5	HP:0010298	Smooth tongue	HP:0040283	ORPHA:79396
3852	KRT5	HP:0045059	Hyperkeratotic papule	HP:0040282	ORPHA:79397
3852	KRT5	HP:0045059	Hyperkeratotic papule	HP:0040283	ORPHA:79145
3852	KRT5	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:79400
3852	KRT5	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:619555
3852	KRT5	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:131760
3852	KRT5	HP:0000972	Palmoplantar hyperkeratosis	-	ORPHA:158681
3852	KRT5	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:79397
3852	KRT5	HP:0000989	Pruritus	HP:0040282	ORPHA:158681
3852	KRT5	HP:0000989	Pruritus	HP:0040283	ORPHA:79145
3852	KRT5	HP:0000989	Pruritus	HP:0040281	ORPHA:79400
3852	KRT5	HP:0000989	Pruritus	HP:0040284	ORPHA:79399
3852	KRT5	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:79396
3852	KRT5	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:158681
3852	KRT5	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:79396
3852	KRT5	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:79145
3852	KRT5	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:79399
3852	KRT5	HP:0040154	Acne inversa	HP:0040283	ORPHA:79145
3852	KRT5	HP:0008066	Abnormal blistering of the skin	14/14	OMIM:619555
3852	KRT5	HP:0008066	Abnormal blistering of the skin	7/7	OMIM:131760
3852	KRT5	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:158681
3852	KRT5	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79400
3852	KRT5	HP:0008066	Abnormal blistering of the skin	2/2	OMIM:619599
3852	KRT5	HP:0008066	Abnormal blistering of the skin	16/16	OMIM:131960
3852	KRT5	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79396
3852	KRT5	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79397
3852	KRT5	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79399
3852	KRT5	HP:0008066	Abnormal blistering of the skin	9/9	OMIM:609352
3852	KRT5	HP:0001596	Alopecia	HP:0040282	ORPHA:79396
3852	KRT5	HP:0001596	Alopecia	HP:0040283	ORPHA:79397
3852	KRT5	HP:0002815	Abnormality of the knee	HP:0040283	ORPHA:158681
3852	KRT5	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:79396
3852	KRT5	HP:0012221	Pretibial blistering	HP:0040283	ORPHA:158681
3852	KRT5	HP:0001522	Death in infancy	1/2	OMIM:619599
3852	KRT5	HP:0001508	Failure to thrive	HP:0040283	ORPHA:79396
3852	KRT5	HP:0030052	Inguinal freckling	HP:0040282	ORPHA:79145
3852	KRT5	HP:0001510	Growth delay	1/1	OMIM:619599
3852	KRT5	HP:0001510	Growth delay	-	OMIM:131760
3852	KRT5	HP:0001510	Growth delay	HP:0040282	ORPHA:79396
3852	KRT5	HP:0031525	Keratoacanthoma	HP:0040284	ORPHA:79145
3852	KRT5	HP:0001609	Hoarse voice	1/1	OMIM:131760
3852	KRT5	HP:0001609	Hoarse voice	HP:0040283	ORPHA:79396
3852	KRT5	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:79396
3852	KRT5	HP:0001600	Abnormality of the larynx	HP:0040283	ORPHA:79396
3852	KRT5	HP:0001615	Hoarse cry	1/1	OMIM:131760
3852	KRT5	HP:0000365	Hearing impairment	1/1	OMIM:619599
3852	KRT5	HP:0031446	Erosion of oral mucosa	HP:0040283	ORPHA:79400
3852	KRT5	HP:0031447	Penile freckling	HP:0040283	ORPHA:79145
3852	KRT5	HP:0007957	Corneal opacity	HP:0040283	ORPHA:79396
3852	KRT5	HP:0004057	Mitten deformity	1/1	OMIM:619599
3852	KRT5	HP:0000478	Abnormality of the eye	-	ORPHA:158681
3852	KRT5	HP:0000464	Abnormality of the neck	HP:0040283	ORPHA:158681
3852	KRT5	HP:0000464	Abnormality of the neck	HP:0040282	ORPHA:79145
3852	KRT5	HP:0006739	Squamous cell carcinoma of the skin	HP:0040284	ORPHA:79396
3852	KRT5	HP:0030442	Anal margin squamous cell carcinoma	HP:0040284	ORPHA:79145
3852	KRT5	HP:0005483	Abnormal epiglottis morphology	HP:0040283	ORPHA:79396
3852	KRT5	HP:0001805	Onychogryphosis	-	OMIM:131960
3852	KRT5	HP:0001805	Onychogryphosis	HP:0040283	ORPHA:79396
3852	KRT5	HP:0001810	Dystrophic toenail	1/1	OMIM:619594
3852	KRT5	HP:0030350	Erythematous papule	HP:0040283	ORPHA:79145
3852	KRT5	HP:0030350	Erythematous papule	HP:0040284	ORPHA:79400
3852	KRT5	HP:0000540	Hypermetropia	HP:0040283	ORPHA:79396
3852	KRT5	HP:0012513	Upper limb pain	HP:0040282	ORPHA:79400
3853	KRT6A	HP:0025248	Eruptive vellus hair cyst	HP:0040283	ORPHA:2309
3853	KRT6A	HP:0025245	Cutaneous cyst	HP:0040282	ORPHA:2309
3853	KRT6A	HP:0007446	Palmoplantar blistering	HP:0040281	ORPHA:2309
3853	KRT6A	HP:0007410	Palmoplantar hyperhidrosis	HP:0040282	ORPHA:2309
3853	KRT6A	HP:0012035	Steatocystoma multiplex	HP:0040282	ORPHA:2309
3853	KRT6A	HP:0007556	Plantar hyperkeratosis	-	OMIM:615726
3853	KRT6A	HP:0007502	Follicular hyperkeratosis	-	OMIM:167200
3853	KRT6A	HP:0007502	Follicular hyperkeratosis	1/7	OMIM:615726
3853	KRT6A	HP:0007502	Follicular hyperkeratosis	HP:0040282	ORPHA:2309
3853	KRT6A	HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas	HP:0040282	ORPHA:2309
3853	KRT6A	HP:0000006	Autosomal dominant inheritance	-	OMIM:615726
3853	KRT6A	HP:0000006	Autosomal dominant inheritance	-	OMIM:167200
3853	KRT6A	HP:0006288	Advanced eruption of teeth	HP:0040283	ORPHA:2309
3853	KRT6A	HP:0002745	Oral leukoplakia	1/1	OMIM:167200
3853	KRT6A	HP:0002745	Oral leukoplakia	7/10	OMIM:615726
3853	KRT6A	HP:0002745	Oral leukoplakia	HP:0040282	ORPHA:2309
3853	KRT6A	HP:0002098	Respiratory distress	HP:0040284	ORPHA:2309
3853	KRT6A	HP:0008401	Onychogryphosis of toenails	3/3	OMIM:615726
3853	KRT6A	HP:0008401	Onychogryphosis of toenails	HP:0040281	ORPHA:2309
3853	KRT6A	HP:0008404	Nail dystrophy	1/1	OMIM:167200
3853	KRT6A	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:2309
3853	KRT6A	HP:0008404	Nail dystrophy	3/3	OMIM:615726
3853	KRT6A	HP:0100798	Fingernail dysplasia	HP:0040282	ORPHA:2309
3853	KRT6A	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2309
3853	KRT6A	HP:0200040	Epidermoid cyst	HP:0040282	ORPHA:2309
3853	KRT6A	HP:0010765	Palmar hyperkeratosis	-	OMIM:615726
3853	KRT6A	HP:0010765	Palmar hyperkeratosis	HP:0040282	ORPHA:2309
3853	KRT6A	HP:0000695	Natal tooth	HP:0040283	ORPHA:2309
3853	KRT6A	HP:0030766	Ear pain	HP:0040283	ORPHA:2309
3853	KRT6A	HP:0040036	Onychogryphosis of fingernail	HP:0040282	ORPHA:2309
3853	KRT6A	HP:0000975	Hyperhidrosis	-	OMIM:615726
3853	KRT6A	HP:0000972	Palmoplantar hyperkeratosis	1/1	OMIM:167200
3853	KRT6A	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:2309
3853	KRT6A	HP:0000982	Palmoplantar keratoderma	6/10	OMIM:615726
3853	KRT6A	HP:0040181	Chapped lip	-	OMIM:615726
3853	KRT6A	HP:0001596	Alopecia	HP:0040284	ORPHA:2309
3853	KRT6A	HP:0000221	Furrowed tongue	-	OMIM:615726
3853	KRT6A	HP:0000230	Gingivitis	-	OMIM:615726
3853	KRT6A	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2309
3853	KRT6A	HP:0001609	Hoarse voice	HP:0040284	ORPHA:2309
3853	KRT6A	HP:0030318	Angular cheilitis	HP:0040284	ORPHA:2309
3853	KRT6A	HP:0030268	Hyperplastic callus formation	HP:0040281	ORPHA:2309
3853	KRT6A	HP:0001805	Onychogryphosis	-	OMIM:167200
3853	KRT6A	HP:0001818	Paronychia	HP:0040283	ORPHA:2309
3853	KRT6A	HP:0012514	Lower limb pain	HP:0040281	ORPHA:2309
3854	KRT6B	HP:0025248	Eruptive vellus hair cyst	HP:0040283	ORPHA:2309
3854	KRT6B	HP:0025245	Cutaneous cyst	HP:0040282	ORPHA:2309
3854	KRT6B	HP:0007446	Palmoplantar blistering	HP:0040281	ORPHA:2309
3854	KRT6B	HP:0007410	Palmoplantar hyperhidrosis	-	OMIM:167210
3854	KRT6B	HP:0007410	Palmoplantar hyperhidrosis	HP:0040282	ORPHA:2309
3854	KRT6B	HP:0012035	Steatocystoma multiplex	-	OMIM:167210
3854	KRT6B	HP:0012035	Steatocystoma multiplex	-	OMIM:615728
3854	KRT6B	HP:0012035	Steatocystoma multiplex	HP:0040282	ORPHA:2309
3854	KRT6B	HP:0007502	Follicular hyperkeratosis	HP:0040282	ORPHA:2309
3854	KRT6B	HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas	HP:0040282	ORPHA:2309
3854	KRT6B	HP:0000006	Autosomal dominant inheritance	-	OMIM:615728
3854	KRT6B	HP:0000006	Autosomal dominant inheritance	-	OMIM:167210
3854	KRT6B	HP:0006288	Advanced eruption of teeth	HP:0040283	ORPHA:2309
3854	KRT6B	HP:0002745	Oral leukoplakia	0/4	OMIM:167210
3854	KRT6B	HP:0002745	Oral leukoplakia	HP:0040282	ORPHA:2309
3854	KRT6B	HP:0002098	Respiratory distress	HP:0040284	ORPHA:2309
3854	KRT6B	HP:0002164	Nail dysplasia	-	OMIM:167210
3854	KRT6B	HP:0002209	Sparse scalp hair	-	OMIM:167210
3854	KRT6B	HP:0008401	Onychogryphosis of toenails	HP:0040281	ORPHA:2309
3854	KRT6B	HP:0008404	Nail dystrophy	4/4	OMIM:167210
3854	KRT6B	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:2309
3854	KRT6B	HP:0008404	Nail dystrophy	-	OMIM:615728
3854	KRT6B	HP:0100798	Fingernail dysplasia	HP:0040282	ORPHA:2309
3854	KRT6B	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2309
3854	KRT6B	HP:0008392	Subungual hyperkeratosis	-	OMIM:167210
3854	KRT6B	HP:0025084	Folliculitis	-	OMIM:167210
3854	KRT6B	HP:0200040	Epidermoid cyst	4/4	OMIM:167210
3854	KRT6B	HP:0200040	Epidermoid cyst	HP:0040282	ORPHA:2309
3854	KRT6B	HP:0010765	Palmar hyperkeratosis	HP:0040282	ORPHA:2309
3854	KRT6B	HP:0011359	Dry hair	-	OMIM:167210
3854	KRT6B	HP:0000695	Natal tooth	1/4	OMIM:167210
3854	KRT6B	HP:0000695	Natal tooth	HP:0040283	ORPHA:2309
3854	KRT6B	HP:0030766	Ear pain	HP:0040283	ORPHA:2309
3854	KRT6B	HP:0040036	Onychogryphosis of fingernail	HP:0040282	ORPHA:2309
3854	KRT6B	HP:0045075	Sparse eyebrow	-	OMIM:167210
3854	KRT6B	HP:0000972	Palmoplantar hyperkeratosis	4/4	OMIM:167210
3854	KRT6B	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:2309
3854	KRT6B	HP:0000982	Palmoplantar keratoderma	-	OMIM:615728
3854	KRT6B	HP:0001596	Alopecia	HP:0040284	ORPHA:2309
3854	KRT6B	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2309
3854	KRT6B	HP:0001609	Hoarse voice	-	OMIM:167210
3854	KRT6B	HP:0001609	Hoarse voice	HP:0040284	ORPHA:2309
3854	KRT6B	HP:0030318	Angular cheilitis	-	OMIM:167210
3854	KRT6B	HP:0030318	Angular cheilitis	HP:0040284	ORPHA:2309
3854	KRT6B	HP:0030268	Hyperplastic callus formation	HP:0040281	ORPHA:2309
3854	KRT6B	HP:0001818	Paronychia	HP:0040283	ORPHA:2309
3854	KRT6B	HP:0012514	Lower limb pain	HP:0040281	ORPHA:2309
3857	KRT9	HP:0025114	Hypergranulosis	HP:0040283	ORPHA:2199
3857	KRT9	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:2199
3857	KRT9	HP:0007447	Diffuse palmoplantar hyperkeratosis	HP:0040282	ORPHA:2199
3857	KRT9	HP:0001220	Interphalangeal joint contracture of finger	HP:0040282	ORPHA:2199
3857	KRT9	HP:0001217	Clubbing	HP:0040282	ORPHA:2199
3857	KRT9	HP:0007556	Plantar hyperkeratosis	-	OMIM:144200
3857	KRT9	HP:0007559	Localized epidermolytic hyperkeratosis	-	OMIM:144200
3857	KRT9	HP:0000006	Autosomal dominant inheritance	-	OMIM:144200
3857	KRT9	HP:0032541	Knuckle pad	HP:0040282	ORPHA:2199
3857	KRT9	HP:0010830	Impaired tactile sensation	HP:0040283	ORPHA:2199
3857	KRT9	HP:0025092	Epidermal acanthosis	HP:0040282	ORPHA:2199
3857	KRT9	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:2199
3857	KRT9	HP:0010765	Palmar hyperkeratosis	HP:0040282	ORPHA:2199
3857	KRT9	HP:0010765	Palmar hyperkeratosis	-	OMIM:144200
3857	KRT9	HP:0003212	Increased circulating IgE concentration	-	OMIM:144200
3857	KRT9	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:2199
3857	KRT9	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:144200
3857	KRT9	HP:0000972	Palmoplantar hyperkeratosis	HP:0040281	ORPHA:2199
3857	KRT9	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:2199
3857	KRT9	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:2199
3857	KRT9	HP:0012385	Camptodactyly	HP:0040283	ORPHA:2199
3858	KRT10	HP:0025114	Hypergranulosis	2/2	OMIM:620707
3858	KRT10	HP:0002557	Hypoplastic nipples	6/7	OMIM:609165
3858	KRT10	HP:0001217	Clubbing	0/1	OMIM:609165
3858	KRT10	HP:0007475	Congenital bullous ichthyosiform erythroderma	HP:0040281	ORPHA:312
3858	KRT10	HP:0007475	Congenital bullous ichthyosiform erythroderma	-	OMIM:607602
3858	KRT10	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	4/6	OMIM:609165
3858	KRT10	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	2/2	OMIM:620150
3858	KRT10	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	3/4	OMIM:620707
3858	KRT10	HP:0007453	Flexural lichenification	1/2	OMIM:607602
3858	KRT10	HP:0000007	Autosomal recessive inheritance	-	OMIM:620150
3858	KRT10	HP:0000007	Autosomal recessive inheritance	-	OMIM:620707
3858	KRT10	HP:0000006	Autosomal dominant inheritance	-	OMIM:607602
3858	KRT10	HP:0000006	Autosomal dominant inheritance	-	OMIM:609165
3858	KRT10	HP:0000006	Autosomal dominant inheritance	-	OMIM:620150
3858	KRT10	HP:0000006	Autosomal dominant inheritance	-	OMIM:146600
3858	KRT10	HP:0025474	Erythematous plaque	1/2	OMIM:607602
3858	KRT10	HP:0031288	Cobblestone-like hyperkeratosis	1/2	OMIM:620150
3858	KRT10	HP:0031288	Cobblestone-like hyperkeratosis	1/2	OMIM:620707
3858	KRT10	HP:0003593	Infantile onset	3/3	OMIM:146600
3858	KRT10	HP:0003577	Congenital onset	1/2	OMIM:607602
3858	KRT10	HP:0003577	Congenital onset	2/2	OMIM:620150
3858	KRT10	HP:0003577	Congenital onset	4/4	OMIM:620707
3858	KRT10	HP:0100780	Conjunctival hamartoma	HP:0040283	ORPHA:312
3858	KRT10	HP:0001019	Erythroderma	HP:0040281	ORPHA:312
3858	KRT10	HP:0001019	Erythroderma	2/2	OMIM:620150
3858	KRT10	HP:0001019	Erythroderma	3/3	OMIM:620707
3858	KRT10	HP:0001019	Erythroderma	6/6	OMIM:609165
3858	KRT10	HP:0025092	Epidermal acanthosis	4/4	OMIM:620707
3858	KRT10	HP:0025080	Orthokeratotic hyperkeratosis	2/2	OMIM:146600
3858	KRT10	HP:0200042	Skin ulcer	HP:0040283	ORPHA:312
3858	KRT10	HP:0200041	Skin erosion	2/2	OMIM:607602
3858	KRT10	HP:0010783	Erythema	2/2	OMIM:607602
3858	KRT10	HP:0003623	Neonatal onset	1/2	OMIM:607602
3858	KRT10	HP:0034703	Keratinocyte vacuolization	2/2	OMIM:620707
3858	KRT10	HP:0004906	Hypernatremic dehydration	1/4	OMIM:620707
3858	KRT10	HP:0005595	Generalized hyperkeratosis	11/13	OMIM:620150
3858	KRT10	HP:0005595	Generalized hyperkeratosis	2/2	OMIM:620707
3858	KRT10	HP:0000639	Nystagmus	2/6	OMIM:609165
3858	KRT10	HP:0000656	Ectropion	5/7	OMIM:609165
3858	KRT10	HP:0004325	Decreased body weight	5/5	OMIM:609165
3858	KRT10	HP:0004322	Short stature	6/6	OMIM:609165
3858	KRT10	HP:0040009	Hyperparakeratosis	1/1	OMIM:607602
3858	KRT10	HP:0004396	Poor appetite	HP:0040281	ORPHA:312
3858	KRT10	HP:0000998	Hypertrichosis	6/6	OMIM:609165
3858	KRT10	HP:0000972	Palmoplantar hyperkeratosis	0/2	OMIM:607602
3858	KRT10	HP:0000972	Palmoplantar hyperkeratosis	2/10	OMIM:620150
3858	KRT10	HP:0000972	Palmoplantar hyperkeratosis	4/6	OMIM:609165
3858	KRT10	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:312
3858	KRT10	HP:0000989	Pruritus	2/6	OMIM:609165
3858	KRT10	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:312
3858	KRT10	HP:0000982	Palmoplantar keratoderma	2/3	OMIM:620150
3858	KRT10	HP:0000982	Palmoplantar keratoderma	0/4	OMIM:620707
3858	KRT10	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:312
3858	KRT10	HP:0000962	Hyperkeratosis	1/8	OMIM:620150
3858	KRT10	HP:0000962	Hyperkeratosis	3/3	OMIM:146600
3858	KRT10	HP:0040162	Orthokeratosis	1/1	OMIM:607602
3858	KRT10	HP:0040162	Orthokeratosis	1/1	OMIM:620707
3858	KRT10	HP:0008064	Ichthyosis	HP:0040281	ORPHA:312
3858	KRT10	HP:0008064	Ichthyosis	2/2	OMIM:607602
3858	KRT10	HP:0008064	Ichthyosis	6/6	OMIM:609165
3858	KRT10	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:312
3858	KRT10	HP:0008066	Abnormal blistering of the skin	2/2	OMIM:607602
3858	KRT10	HP:0008066	Abnormal blistering of the skin	4/11	OMIM:620150
3858	KRT10	HP:0008066	Abnormal blistering of the skin	2/4	OMIM:620707
3858	KRT10	HP:0008066	Abnormal blistering of the skin	0/3	OMIM:146600
3858	KRT10	HP:0040189	Scaling skin	1/2	OMIM:607602
3858	KRT10	HP:0040189	Scaling skin	7/7	OMIM:609165
3858	KRT10	HP:0001595	Abnormal hair morphology	0/2	OMIM:607602
3858	KRT10	HP:0001597	Abnormal nail morphology	0/2	OMIM:607602
3858	KRT10	HP:0000486	Strabismus	3/6	OMIM:609165
3858	KRT10	HP:0001824	Weight loss	HP:0040281	ORPHA:312
3859	KRT12	HP:0001131	Corneal dystrophy	-	OMIM:122100
3859	KRT12	HP:0009926	Epiphora	-	OMIM:122100
3859	KRT12	HP:0000006	Autosomal dominant inheritance	-	OMIM:122100
3859	KRT12	HP:0007663	Reduced visual acuity	-	OMIM:122100
3859	KRT12	HP:0003680	Nonprogressive	-	OMIM:122100
3859	KRT12	HP:0000613	Photophobia	-	OMIM:122100
3859	KRT12	HP:0007856	Punctate opacification of the cornea	-	OMIM:122100
3860	KRT13	HP:0000006	Autosomal dominant inheritance	-	OMIM:615785
3860	KRT13	HP:0025092	Epidermal acanthosis	-	OMIM:615785
3860	KRT13	HP:0040009	Hyperparakeratosis	-	OMIM:615785
3860	KRT13	HP:0000969	Edema	-	OMIM:615785
3861	KRT14	HP:0003764	Nevus	HP:0040283	ORPHA:89838
3861	KRT14	HP:0100806	Sepsis	HP:0040283	ORPHA:79396
3861	KRT14	HP:0025238	Foot pain	HP:0040281	ORPHA:79400
3861	KRT14	HP:0001263	Global developmental delay	HP:0040283	ORPHA:79396
3861	KRT14	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:89838
3861	KRT14	HP:0007446	Palmoplantar blistering	HP:0040282	ORPHA:89838
3861	KRT14	HP:0007446	Palmoplantar blistering	59/59	OMIM:131800
3861	KRT14	HP:0007446	Palmoplantar blistering	HP:0040281	ORPHA:79400
3861	KRT14	HP:0007427	Reticulated skin pigmentation	HP:0040281	ORPHA:69087
3861	KRT14	HP:0007427	Reticulated skin pigmentation	HP:0040281	ORPHA:79397
3861	KRT14	HP:0031045	Acral blistering	HP:0040283	ORPHA:69087
3861	KRT14	HP:0001220	Interphalangeal joint contracture of finger	HP:0040283	ORPHA:69087
3861	KRT14	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:79396
3861	KRT14	HP:0007556	Plantar hyperkeratosis	HP:0040282	ORPHA:79397
3861	KRT14	HP:0007556	Plantar hyperkeratosis	HP:0040282	ORPHA:79399
3861	KRT14	HP:0007556	Plantar hyperkeratosis	HP:0040283	ORPHA:79400
3861	KRT14	HP:0007530	Punctate palmoplantar hyperkeratosis	HP:0040283	ORPHA:69087
3861	KRT14	HP:0007500	Decreased number of sweat glands	HP:0040282	ORPHA:69087
3861	KRT14	HP:0007497	Focal friction-related palmoplantar hyperkeratosis	HP:0040281	ORPHA:79400
3861	KRT14	HP:0007483	Depigmentation/hyperpigmentation of skin	HP:0040283	ORPHA:79396
3861	KRT14	HP:0007455	Adermatoglyphia	-	OMIM:161000
3861	KRT14	HP:0007455	Adermatoglyphia	HP:0040281	ORPHA:69087
3861	KRT14	HP:0007455	Adermatoglyphia	-	OMIM:125595
3861	KRT14	HP:0000007	Autosomal recessive inheritance	-	OMIM:601001
3861	KRT14	HP:0000006	Autosomal dominant inheritance	-	OMIM:131800
3861	KRT14	HP:0000006	Autosomal dominant inheritance	-	OMIM:131760
3861	KRT14	HP:0000006	Autosomal dominant inheritance	-	OMIM:161000
3861	KRT14	HP:0000006	Autosomal dominant inheritance	-	OMIM:131900
3861	KRT14	HP:0000006	Autosomal dominant inheritance	-	OMIM:125595
3861	KRT14	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	0/2	OMIM:601001
3861	KRT14	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:69087
3861	KRT14	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:79397
3861	KRT14	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:79399
3861	KRT14	HP:0008944	Distal lower limb amyotrophy	HP:0040283	ORPHA:79396
3861	KRT14	HP:0031282	Malalignment of the great toenail	HP:0040282	ORPHA:69087
3861	KRT14	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:69087
3861	KRT14	HP:0006297	Enamel hypoplasia	HP:0040282	ORPHA:79396
3861	KRT14	HP:0006286	Yellow-brown discoloration of the teeth	HP:0040283	ORPHA:69087
3861	KRT14	HP:0007599	Generalized reticulate brown pigmentation	HP:0040283	ORPHA:69087
3861	KRT14	HP:0007599	Generalized reticulate brown pigmentation	HP:0040282	ORPHA:79396
3861	KRT14	HP:0006253	Swelling of proximal interphalangeal joints	HP:0040283	ORPHA:69087
3861	KRT14	HP:0007585	Skin fragility with non-scarring blistering	HP:0040281	ORPHA:79397
3861	KRT14	HP:0007585	Skin fragility with non-scarring blistering	HP:0040281	ORPHA:79399
3861	KRT14	HP:0007585	Skin fragility with non-scarring blistering	HP:0040281	ORPHA:79400
3861	KRT14	HP:0007588	Reticular hyperpigmentation	-	OMIM:161000
3861	KRT14	HP:0007588	Reticular hyperpigmentation	-	OMIM:125595
3861	KRT14	HP:0007589	Aplasia cutis congenita on trunk or limbs	HP:0040282	ORPHA:79396
3861	KRT14	HP:0007589	Aplasia cutis congenita on trunk or limbs	HP:0040283	ORPHA:89838
3861	KRT14	HP:0002780	Bronchomalacia	HP:0040283	ORPHA:79396
3861	KRT14	HP:0002719	Recurrent infections	HP:0040283	ORPHA:79396
3861	KRT14	HP:0003341	Lamina lucida cleavage	HP:0040281	ORPHA:79397
3861	KRT14	HP:0003341	Lamina lucida cleavage	HP:0040281	ORPHA:79399
3861	KRT14	HP:0003341	Lamina lucida cleavage	HP:0040281	ORPHA:79400
3861	KRT14	HP:0002046	Heat intolerance	HP:0040282	ORPHA:79400
3861	KRT14	HP:0002046	Heat intolerance	-	OMIM:161000
3861	KRT14	HP:0002046	Heat intolerance	HP:0040282	ORPHA:69087
3861	KRT14	HP:0003489	Acute episodes of neuropathic symptoms	HP:0040282	ORPHA:79400
3861	KRT14	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:79396
3861	KRT14	HP:0002164	Nail dysplasia	HP:0040282	ORPHA:79397
3861	KRT14	HP:0003401	Paresthesia	HP:0040282	ORPHA:79400
3861	KRT14	HP:0003593	Infantile onset	2/2	OMIM:601001
3861	KRT14	HP:0003593	Infantile onset	-	OMIM:131900
3861	KRT14	HP:0003577	Congenital onset	1/1	OMIM:601001
3861	KRT14	HP:0003577	Congenital onset	2/5	OMIM:131760
3861	KRT14	HP:0008404	Nail dystrophy	1/1	OMIM:131760
3861	KRT14	HP:0008404	Nail dystrophy	HP:0040284	ORPHA:79400
3861	KRT14	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:69087
3861	KRT14	HP:0008404	Nail dystrophy	0/5	OMIM:131900
3861	KRT14	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:79396
3861	KRT14	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:79397
3861	KRT14	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:79399
3861	KRT14	HP:0008404	Nail dystrophy	-	OMIM:125595
3861	KRT14	HP:0009719	Hypomelanotic macule	HP:0040282	ORPHA:79397
3861	KRT14	HP:0009719	Hypomelanotic macule	HP:0040283	ORPHA:79399
3861	KRT14	HP:0002293	Alopecia of scalp	-	OMIM:125595
3861	KRT14	HP:0200097	Oral mucosal blisters	0/2	OMIM:601001
3861	KRT14	HP:0200097	Oral mucosal blisters	HP:0040282	ORPHA:89838
3861	KRT14	HP:0200097	Oral mucosal blisters	1/1	OMIM:131760
3861	KRT14	HP:0200097	Oral mucosal blisters	HP:0040284	ORPHA:79400
3861	KRT14	HP:0200097	Oral mucosal blisters	0/5	OMIM:131900
3861	KRT14	HP:0200097	Oral mucosal blisters	HP:0040282	ORPHA:79396
3861	KRT14	HP:0200097	Oral mucosal blisters	HP:0040283	ORPHA:79397
3861	KRT14	HP:0200097	Oral mucosal blisters	HP:0040283	ORPHA:79399
3861	KRT14	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:79396
3861	KRT14	HP:0008392	Subungual hyperkeratosis	HP:0040282	ORPHA:69087
3861	KRT14	HP:0008388	Abnormal toenail morphology	HP:0040282	ORPHA:89838
3861	KRT14	HP:0001056	Milia	HP:0040283	ORPHA:89838
3861	KRT14	HP:0001056	Milia	-	OMIM:131760
3861	KRT14	HP:0001056	Milia	HP:0040284	ORPHA:79400
3861	KRT14	HP:0001056	Milia	HP:0040283	ORPHA:69087
3861	KRT14	HP:0001056	Milia	0/5	OMIM:131900
3861	KRT14	HP:0001056	Milia	0/33	OMIM:131800
3861	KRT14	HP:0001056	Milia	HP:0040282	ORPHA:79396
3861	KRT14	HP:0001056	Milia	HP:0040283	ORPHA:79397
3861	KRT14	HP:0001056	Milia	HP:0040283	ORPHA:79399
3861	KRT14	HP:0001057	Aplasia cutis congenita	HP:0040282	ORPHA:79396
3861	KRT14	HP:0001034	Hypermelanotic macule	HP:0040282	ORPHA:79397
3861	KRT14	HP:0001034	Hypermelanotic macule	HP:0040283	ORPHA:79399
3861	KRT14	HP:0001030	Fragile skin	HP:0040281	ORPHA:79396
3861	KRT14	HP:0001010	Hypopigmentation of the skin	HP:0040283	ORPHA:89838
3861	KRT14	HP:0001010	Hypopigmentation of the skin	HP:0040283	ORPHA:69087
3861	KRT14	HP:0001010	Hypopigmentation of the skin	HP:0040283	ORPHA:79396
3861	KRT14	HP:0200035	Skin plaque	HP:0040282	ORPHA:79400
3861	KRT14	HP:0200034	Papule	HP:0040284	ORPHA:79399
3861	KRT14	HP:0001075	Atrophic scars	HP:0040283	OMIM:131760
3861	KRT14	HP:0001075	Atrophic scars	HP:0040283	ORPHA:89838
3861	KRT14	HP:0001075	Atrophic scars	HP:0040284	ORPHA:79400
3861	KRT14	HP:0001075	Atrophic scars	HP:0040282	ORPHA:79396
3861	KRT14	HP:0001070	Mottled pigmentation	HP:0040281	ORPHA:79397
3861	KRT14	HP:0200041	Skin erosion	HP:0040282	ORPHA:89838
3861	KRT14	HP:0200041	Skin erosion	HP:0040283	ORPHA:79400
3861	KRT14	HP:0010783	Erythema	HP:0040281	ORPHA:79396
3861	KRT14	HP:0010765	Palmar hyperkeratosis	HP:0040282	ORPHA:79397
3861	KRT14	HP:0010765	Palmar hyperkeratosis	HP:0040282	ORPHA:79399
3861	KRT14	HP:0010765	Palmar hyperkeratosis	HP:0040283	ORPHA:79400
3861	KRT14	HP:0100699	Scarring	HP:0040282	ORPHA:79396
3861	KRT14	HP:0003623	Neonatal onset	1/4	OMIM:131760
3861	KRT14	HP:0005590	Spotty hypopigmentation	HP:0040282	ORPHA:79397
3861	KRT14	HP:0005590	Spotty hypopigmentation	HP:0040282	ORPHA:79399
3861	KRT14	HP:0034067	Tonofilament clumping	5/6	OMIM:131760
3861	KRT14	HP:0005586	Hyperpigmentation in sun-exposed areas	HP:0040283	ORPHA:69087
3861	KRT14	HP:0005585	Spotty hyperpigmentation	HP:0040282	ORPHA:79399
3861	KRT14	HP:0000613	Photophobia	HP:0040283	ORPHA:79396
3861	KRT14	HP:0001903	Anemia	HP:0040282	ORPHA:79396
3861	KRT14	HP:0011354	Generalized abnormality of skin	HP:0040281	ORPHA:79396
3861	KRT14	HP:0000670	Carious teeth	-	OMIM:161000
3861	KRT14	HP:0000670	Carious teeth	HP:0040283	ORPHA:69087
3861	KRT14	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040283	ORPHA:79396
3861	KRT14	HP:0006934	Congenital nystagmus	HP:0040283	ORPHA:79396
3861	KRT14	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:79396
3861	KRT14	HP:0034194	Suprabasal cleavage	1/1	OMIM:131900
3861	KRT14	HP:0034193	Stratum basale cleavage	3/3	OMIM:601001
3861	KRT14	HP:0034193	Stratum basale cleavage	1/1	OMIM:131800
3861	KRT14	HP:0034193	Stratum basale cleavage	7/7	OMIM:131760
3861	KRT14	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040282	ORPHA:79396
3861	KRT14	HP:0012785	Flexion contracture of finger	HP:0040283	ORPHA:69087
3861	KRT14	HP:0012788	Reticulate pigmentation of oral mucosa	-	OMIM:125595
3861	KRT14	HP:0011463	Childhood onset	33/33	OMIM:131800
3861	KRT14	HP:0011463	Childhood onset	2/4	OMIM:131760
3861	KRT14	HP:0009123	Mixed hypo- and hyperpigmentation of the skin	HP:0040281	ORPHA:79397
3861	KRT14	HP:0009123	Mixed hypo- and hyperpigmentation of the skin	HP:0040283	ORPHA:79399
3861	KRT14	HP:0009123	Mixed hypo- and hyperpigmentation of the skin	-	ORPHA:79400
3861	KRT14	HP:0010298	Smooth tongue	HP:0040283	ORPHA:79396
3861	KRT14	HP:0045059	Hyperkeratotic papule	HP:0040282	ORPHA:79397
3861	KRT14	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:79400
3861	KRT14	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:131760
3861	KRT14	HP:0000972	Palmoplantar hyperkeratosis	HP:0040282	ORPHA:89838
3861	KRT14	HP:0000972	Palmoplantar hyperkeratosis	HP:0040283	ORPHA:69087
3861	KRT14	HP:0000972	Palmoplantar hyperkeratosis	2/5	OMIM:131900
3861	KRT14	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:125595
3861	KRT14	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:79397
3861	KRT14	HP:0000989	Pruritus	HP:0040283	ORPHA:89838
3861	KRT14	HP:0000989	Pruritus	HP:0040281	ORPHA:79400
3861	KRT14	HP:0000989	Pruritus	HP:0040284	ORPHA:79399
3861	KRT14	HP:0000982	Palmoplantar keratoderma	-	OMIM:161000
3861	KRT14	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:79396
3861	KRT14	HP:0000958	Dry skin	HP:0040282	ORPHA:69087
3861	KRT14	HP:0000953	Hyperpigmentation of the skin	HP:0040283	ORPHA:89838
3861	KRT14	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:79396
3861	KRT14	HP:0000970	Anhidrosis	HP:0040283	ORPHA:69087
3861	KRT14	HP:0000966	Hypohidrosis	-	OMIM:161000
3861	KRT14	HP:0000966	Hypohidrosis	HP:0040282	ORPHA:69087
3861	KRT14	HP:0000966	Hypohidrosis	-	OMIM:125595
3861	KRT14	HP:0000962	Hyperkeratosis	0/33	OMIM:131800
3861	KRT14	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:89838
3861	KRT14	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:79399
3861	KRT14	HP:0008066	Abnormal blistering of the skin	7/7	OMIM:131760
3861	KRT14	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:89838
3861	KRT14	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79400
3861	KRT14	HP:0008066	Abnormal blistering of the skin	3/3	OMIM:601001
3861	KRT14	HP:0008066	Abnormal blistering of the skin	5/5	OMIM:131900
3861	KRT14	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79396
3861	KRT14	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79397
3861	KRT14	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79399
3861	KRT14	HP:0001596	Alopecia	HP:0040282	ORPHA:79396
3861	KRT14	HP:0001596	Alopecia	HP:0040283	ORPHA:79397
3861	KRT14	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:79396
3861	KRT14	HP:0001508	Failure to thrive	HP:0040283	ORPHA:89838
3861	KRT14	HP:0001508	Failure to thrive	HP:0040283	ORPHA:79396
3861	KRT14	HP:0001510	Growth delay	-	OMIM:131760
3861	KRT14	HP:0001510	Growth delay	HP:0040282	ORPHA:79396
3861	KRT14	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:69087
3861	KRT14	HP:0001609	Hoarse voice	1/1	OMIM:131760
3861	KRT14	HP:0001609	Hoarse voice	HP:0040283	ORPHA:79396
3861	KRT14	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:79396
3861	KRT14	HP:0001600	Abnormality of the larynx	HP:0040283	ORPHA:79396
3861	KRT14	HP:0001615	Hoarse cry	1/1	OMIM:131760
3861	KRT14	HP:0006480	Premature loss of teeth	-	OMIM:161000
3861	KRT14	HP:0006480	Premature loss of teeth	HP:0040283	ORPHA:69087
3861	KRT14	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:69087
3861	KRT14	HP:0031446	Erosion of oral mucosa	HP:0040283	ORPHA:79400
3861	KRT14	HP:0031464	Genital blistering	HP:0040283	ORPHA:89838
3861	KRT14	HP:0007957	Corneal opacity	HP:0040283	ORPHA:79396
3861	KRT14	HP:0006739	Squamous cell carcinoma of the skin	HP:0040284	ORPHA:79396
3861	KRT14	HP:0005483	Abnormal epiglottis morphology	HP:0040283	ORPHA:79396
3861	KRT14	HP:0000502	Abnormal conjunctiva morphology	-	OMIM:125595
3861	KRT14	HP:0001808	Fragile nails	-	OMIM:161000
3861	KRT14	HP:0001808	Fragile nails	HP:0040282	ORPHA:69087
3861	KRT14	HP:0001805	Onychogryphosis	0/2	OMIM:601001
3861	KRT14	HP:0001805	Onychogryphosis	HP:0040283	ORPHA:79396
3861	KRT14	HP:0001807	Ridged nail	0/2	OMIM:601001
3861	KRT14	HP:0001807	Ridged nail	HP:0040283	ORPHA:89838
3861	KRT14	HP:0001806	Onycholysis	HP:0040283	ORPHA:69087
3861	KRT14	HP:0001802	Absent toenail	HP:0040283	ORPHA:89838
3861	KRT14	HP:0001810	Dystrophic toenail	HP:0040283	ORPHA:89838
3861	KRT14	HP:0001810	Dystrophic toenail	HP:0040283	ORPHA:69087
3861	KRT14	HP:0030350	Erythematous papule	HP:0040284	ORPHA:79400
3861	KRT14	HP:0000540	Hypermetropia	HP:0040283	ORPHA:79396
3861	KRT14	HP:0012513	Upper limb pain	HP:0040282	ORPHA:79400
3868	KRT16	HP:0025114	Hypergranulosis	HP:0040283	ORPHA:2199
3868	KRT16	HP:0025248	Eruptive vellus hair cyst	HP:0040283	ORPHA:2309
3868	KRT16	HP:0025245	Cutaneous cyst	HP:0040282	ORPHA:2309
3868	KRT16	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:2199
3868	KRT16	HP:0033707	Perioral hyperkeratosis	-	OMIM:613000
3868	KRT16	HP:0007446	Palmoplantar blistering	HP:0040281	ORPHA:2309
3868	KRT16	HP:0007447	Diffuse palmoplantar hyperkeratosis	HP:0040282	ORPHA:2199
3868	KRT16	HP:0007410	Palmoplantar hyperhidrosis	HP:0040282	ORPHA:2309
3868	KRT16	HP:0001220	Interphalangeal joint contracture of finger	HP:0040282	ORPHA:2199
3868	KRT16	HP:0001217	Clubbing	HP:0040282	ORPHA:2199
3868	KRT16	HP:0012035	Steatocystoma multiplex	HP:0040282	ORPHA:2309
3868	KRT16	HP:0007502	Follicular hyperkeratosis	-	OMIM:167200
3868	KRT16	HP:0007502	Follicular hyperkeratosis	13/13	OMIM:613000
3868	KRT16	HP:0007502	Follicular hyperkeratosis	HP:0040282	ORPHA:2309
3868	KRT16	HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas	HP:0040282	ORPHA:2309
3868	KRT16	HP:0007475	Congenital bullous ichthyosiform erythroderma	0/13	OMIM:613000
3868	KRT16	HP:0000006	Autosomal dominant inheritance	-	OMIM:613000
3868	KRT16	HP:0000006	Autosomal dominant inheritance	-	OMIM:167200
3868	KRT16	HP:0006288	Advanced eruption of teeth	HP:0040283	ORPHA:2309
3868	KRT16	HP:0032541	Knuckle pad	HP:0040282	ORPHA:2199
3868	KRT16	HP:0002745	Oral leukoplakia	1/1	OMIM:167200
3868	KRT16	HP:0002745	Oral leukoplakia	HP:0040282	ORPHA:2309
3868	KRT16	HP:0002098	Respiratory distress	HP:0040284	ORPHA:2309
3868	KRT16	HP:0008401	Onychogryphosis of toenails	HP:0040281	ORPHA:2309
3868	KRT16	HP:0008404	Nail dystrophy	1/1	OMIM:167200
3868	KRT16	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:2309
3868	KRT16	HP:0100798	Fingernail dysplasia	HP:0040282	ORPHA:2309
3868	KRT16	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2309
3868	KRT16	HP:0010830	Impaired tactile sensation	HP:0040283	ORPHA:2199
3868	KRT16	HP:0025092	Epidermal acanthosis	HP:0040282	ORPHA:2199
3868	KRT16	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:2199
3868	KRT16	HP:0200040	Epidermoid cyst	HP:0040282	ORPHA:2309
3868	KRT16	HP:0032152	Keratosis pilaris	-	OMIM:613000
3868	KRT16	HP:0010765	Palmar hyperkeratosis	HP:0040282	ORPHA:2199
3868	KRT16	HP:0010765	Palmar hyperkeratosis	HP:0040282	ORPHA:2309
3868	KRT16	HP:0003621	Juvenile onset	-	OMIM:613000
3868	KRT16	HP:0000695	Natal tooth	HP:0040283	ORPHA:2309
3868	KRT16	HP:0030766	Ear pain	HP:0040283	ORPHA:2309
3868	KRT16	HP:0040036	Onychogryphosis of fingernail	HP:0040282	ORPHA:2309
3868	KRT16	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:2199
3868	KRT16	HP:0000972	Palmoplantar hyperkeratosis	1/1	OMIM:167200
3868	KRT16	HP:0000972	Palmoplantar hyperkeratosis	HP:0040281	ORPHA:2199
3868	KRT16	HP:0000982	Palmoplantar keratoderma	13/13	OMIM:613000
3868	KRT16	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:2309
3868	KRT16	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:2199
3868	KRT16	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:2199
3868	KRT16	HP:0001596	Alopecia	HP:0040284	ORPHA:2309
3868	KRT16	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2309
3868	KRT16	HP:0012385	Camptodactyly	HP:0040283	ORPHA:2199
3868	KRT16	HP:0001609	Hoarse voice	HP:0040284	ORPHA:2309
3868	KRT16	HP:0030318	Angular cheilitis	HP:0040284	ORPHA:2309
3868	KRT16	HP:0030268	Hyperplastic callus formation	HP:0040281	ORPHA:2309
3868	KRT16	HP:0001805	Onychogryphosis	-	OMIM:167200
3868	KRT16	HP:0001818	Paronychia	HP:0040283	ORPHA:2309
3868	KRT16	HP:0012514	Lower limb pain	HP:0040281	ORPHA:2309
3872	KRT17	HP:0025248	Eruptive vellus hair cyst	HP:0040283	ORPHA:2309
3872	KRT17	HP:0025245	Cutaneous cyst	HP:0040282	ORPHA:2309
3872	KRT17	HP:0007446	Palmoplantar blistering	HP:0040281	ORPHA:2309
3872	KRT17	HP:0007410	Palmoplantar hyperhidrosis	-	OMIM:167210
3872	KRT17	HP:0007410	Palmoplantar hyperhidrosis	HP:0040282	ORPHA:2309
3872	KRT17	HP:0012035	Steatocystoma multiplex	10/10	OMIM:184500
3872	KRT17	HP:0012035	Steatocystoma multiplex	-	OMIM:167210
3872	KRT17	HP:0012035	Steatocystoma multiplex	HP:0040282	ORPHA:2309
3872	KRT17	HP:0012035	Steatocystoma multiplex	HP:0040281	ORPHA:841
3872	KRT17	HP:0007502	Follicular hyperkeratosis	HP:0040282	ORPHA:2309
3872	KRT17	HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas	HP:0040282	ORPHA:2309
3872	KRT17	HP:0000006	Autosomal dominant inheritance	-	OMIM:184500
3872	KRT17	HP:0000006	Autosomal dominant inheritance	-	OMIM:167210
3872	KRT17	HP:0006288	Advanced eruption of teeth	HP:0040283	ORPHA:2309
3872	KRT17	HP:0002745	Oral leukoplakia	0/4	OMIM:167210
3872	KRT17	HP:0002745	Oral leukoplakia	HP:0040282	ORPHA:2309
3872	KRT17	HP:0002098	Respiratory distress	HP:0040284	ORPHA:2309
3872	KRT17	HP:0002164	Nail dysplasia	-	OMIM:167210
3872	KRT17	HP:0002209	Sparse scalp hair	-	OMIM:167210
3872	KRT17	HP:0008401	Onychogryphosis of toenails	HP:0040281	ORPHA:2309
3872	KRT17	HP:0008404	Nail dystrophy	4/4	OMIM:167210
3872	KRT17	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:2309
3872	KRT17	HP:0009720	Adenoma sebaceum	HP:0040281	ORPHA:841
3872	KRT17	HP:0100798	Fingernail dysplasia	HP:0040282	ORPHA:2309
3872	KRT17	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2309
3872	KRT17	HP:0008392	Subungual hyperkeratosis	-	OMIM:167210
3872	KRT17	HP:0025084	Folliculitis	-	OMIM:167210
3872	KRT17	HP:0200040	Epidermoid cyst	4/4	OMIM:167210
3872	KRT17	HP:0200040	Epidermoid cyst	HP:0040282	ORPHA:2309
3872	KRT17	HP:0010765	Palmar hyperkeratosis	HP:0040282	ORPHA:2309
3872	KRT17	HP:0011359	Dry hair	-	OMIM:167210
3872	KRT17	HP:0000695	Natal tooth	0/10	OMIM:184500
3872	KRT17	HP:0000695	Natal tooth	1/4	OMIM:167210
3872	KRT17	HP:0000695	Natal tooth	HP:0040283	ORPHA:2309
3872	KRT17	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:841
3872	KRT17	HP:0030766	Ear pain	HP:0040283	ORPHA:2309
3872	KRT17	HP:0040036	Onychogryphosis of fingernail	HP:0040282	ORPHA:2309
3872	KRT17	HP:0045075	Sparse eyebrow	-	OMIM:167210
3872	KRT17	HP:0000972	Palmoplantar hyperkeratosis	4/4	OMIM:167210
3872	KRT17	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:2309
3872	KRT17	HP:0001596	Alopecia	HP:0040284	ORPHA:2309
3872	KRT17	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2309
3872	KRT17	HP:0001609	Hoarse voice	-	OMIM:167210
3872	KRT17	HP:0001609	Hoarse voice	HP:0040284	ORPHA:2309
3872	KRT17	HP:0030318	Angular cheilitis	-	OMIM:167210
3872	KRT17	HP:0030318	Angular cheilitis	HP:0040284	ORPHA:2309
3872	KRT17	HP:0030268	Hyperplastic callus formation	HP:0040281	ORPHA:2309
3872	KRT17	HP:0001818	Paronychia	HP:0040283	ORPHA:2309
3872	KRT17	HP:0012514	Lower limb pain	HP:0040281	ORPHA:2309
3875	KRT18	HP:0001254	Lethargy	-	OMIM:215600
3875	KRT18	HP:0001394	Cirrhosis	3/6	OMIM:215600
3875	KRT18	HP:0000007	Autosomal recessive inheritance	-	OMIM:215600
3875	KRT18	HP:0002613	Biliary cirrhosis	1/5	OMIM:215600
3875	KRT18	HP:0410069	Increased level of propylene glycol in blood	-	OMIM:215600
3875	KRT18	HP:0410067	Increased level of L-fucose in urine	-	OMIM:215600
3875	KRT18	HP:0001413	Micronodular cirrhosis	-	OMIM:215600
3875	KRT18	HP:0002092	Pulmonary arterial hypertension	-	OMIM:215600
3875	KRT18	HP:0002040	Esophageal varix	1/1	OMIM:215600
3875	KRT18	HP:0004787	Fulminant hepatitis	1/5	OMIM:215600
3875	KRT18	HP:0003584	Late onset	1/1	OMIM:215600
3875	KRT18	HP:0001945	Fever	-	OMIM:215600
3875	KRT18	HP:0000822	Hypertension	-	OMIM:215600
3875	KRT18	HP:0003270	Abdominal distention	-	OMIM:215600
3875	KRT18	HP:0000952	Jaundice	-	OMIM:215600
3875	KRT18	HP:0001541	Ascites	1/1	OMIM:215600
3887	KRT81	HP:0001249	Intellectual disability	HP:0040283	ORPHA:573
3887	KRT81	HP:0007502	Follicular hyperkeratosis	HP:0040281	ORPHA:573
3887	KRT81	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:573
3887	KRT81	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:573
3887	KRT81	HP:0002217	Slow-growing hair	HP:0040281	ORPHA:573
3887	KRT81	HP:0002232	Patchy alopecia	HP:0040281	ORPHA:573
3887	KRT81	HP:0002213	Fine hair	HP:0040281	ORPHA:573
3887	KRT81	HP:0002299	Brittle hair	HP:0040281	ORPHA:573
3887	KRT81	HP:0100753	Schizophrenia	HP:0040283	ORPHA:573
3887	KRT81	HP:0008070	Sparse hair	HP:0040281	ORPHA:573
3887	KRT81	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:573
3887	KRT81	HP:0000499	Abnormal eyelash morphology	HP:0040281	ORPHA:573
3887	KRT81	HP:0000518	Cataract	HP:0040283	ORPHA:573
3887	KRT81	HP:0000534	Abnormal eyebrow morphology	HP:0040281	ORPHA:573
3889	KRT83	HP:0001249	Intellectual disability	HP:0040283	ORPHA:573
3889	KRT83	HP:0001387	Joint stiffness	4/4	OMIM:617756
3889	KRT83	HP:0007502	Follicular hyperkeratosis	HP:0040281	ORPHA:573
3889	KRT83	HP:0000007	Autosomal recessive inheritance	-	OMIM:617756
3889	KRT83	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:573
3889	KRT83	HP:0000164	Abnormality of the dentition	0/4	OMIM:617756
3889	KRT83	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:573
3889	KRT83	HP:0003593	Infantile onset	1/4	OMIM:617756
3889	KRT83	HP:0002217	Slow-growing hair	HP:0040281	ORPHA:573
3889	KRT83	HP:0002232	Patchy alopecia	HP:0040281	ORPHA:573
3889	KRT83	HP:0002213	Fine hair	HP:0040281	ORPHA:573
3889	KRT83	HP:0002299	Brittle hair	HP:0040281	ORPHA:573
3889	KRT83	HP:0100753	Schizophrenia	HP:0040283	ORPHA:573
3889	KRT83	HP:0200035	Skin plaque	HP:0040281	ORPHA:316
3889	KRT83	HP:0010783	Erythema	HP:0040281	ORPHA:316
3889	KRT83	HP:0011463	Childhood onset	3/4	OMIM:617756
3889	KRT83	HP:0000972	Palmoplantar hyperkeratosis	4/4	OMIM:617756
3889	KRT83	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:316
3889	KRT83	HP:0000962	Hyperkeratosis	4/4	OMIM:617756
3889	KRT83	HP:0008070	Sparse hair	HP:0040281	ORPHA:573
3889	KRT83	HP:0001595	Abnormal hair morphology	0/4	OMIM:617756
3889	KRT83	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:573
3889	KRT83	HP:0000499	Abnormal eyelash morphology	HP:0040281	ORPHA:573
3889	KRT83	HP:0000518	Cataract	HP:0040283	ORPHA:573
3889	KRT83	HP:0001805	Onychogryphosis	3/4	OMIM:617756
3889	KRT83	HP:0000534	Abnormal eyebrow morphology	HP:0040281	ORPHA:573
3891	KRT85	HP:0003777	Pili torti	-	OMIM:602032
3891	KRT85	HP:0001249	Intellectual disability	0/8	OMIM:602032
3891	KRT85	HP:0000007	Autosomal recessive inheritance	-	OMIM:602032
3891	KRT85	HP:0000164	Abnormality of the dentition	0/8	OMIM:602032
3891	KRT85	HP:0003577	Congenital onset	8/8	OMIM:602032
3891	KRT85	HP:0002223	Absent eyebrow	8/8	OMIM:602032
3891	KRT85	HP:0002231	Sparse body hair	8/8	OMIM:602032
3891	KRT85	HP:0008404	Nail dystrophy	8/8	OMIM:602032
3891	KRT85	HP:0002299	Brittle hair	-	OMIM:602032
3891	KRT85	HP:0008394	Congenital onychodystrophy	8/8	OMIM:602032
3891	KRT85	HP:0004524	Temporal hypotrichosis	-	OMIM:602032
3891	KRT85	HP:0000972	Palmoplantar hyperkeratosis	0/8	OMIM:602032
3891	KRT85	HP:0000971	Abnormal sweat gland morphology	0/8	OMIM:602032
3891	KRT85	HP:0001596	Alopecia	8/8	OMIM:602032
3891	KRT85	HP:0001806	Onycholysis	-	OMIM:602032
3891	KRT85	HP:0000561	Absent eyelashes	8/8	OMIM:602032
3892	KRT86	HP:0001249	Intellectual disability	HP:0040283	ORPHA:573
3892	KRT86	HP:0003828	Variable expressivity	-	OMIM:158000
3892	KRT86	HP:0007502	Follicular hyperkeratosis	HP:0040281	ORPHA:573
3892	KRT86	HP:0007468	Perifollicular hyperkeratosis	-	OMIM:158000
3892	KRT86	HP:0000006	Autosomal dominant inheritance	-	OMIM:158000
3892	KRT86	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:573
3892	KRT86	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:573
3892	KRT86	HP:0002164	Nail dysplasia	-	OMIM:158000
3892	KRT86	HP:0003593	Infantile onset	-	OMIM:158000
3892	KRT86	HP:0002217	Slow-growing hair	HP:0040281	ORPHA:573
3892	KRT86	HP:0002232	Patchy alopecia	HP:0040281	ORPHA:573
3892	KRT86	HP:0002213	Fine hair	HP:0040281	ORPHA:573
3892	KRT86	HP:0010719	Abnormality of hair texture	-	OMIM:158000
3892	KRT86	HP:0008404	Nail dystrophy	-	OMIM:158000
3892	KRT86	HP:0002299	Brittle hair	-	OMIM:158000
3892	KRT86	HP:0002299	Brittle hair	HP:0040281	ORPHA:573
3892	KRT86	HP:0100753	Schizophrenia	HP:0040283	ORPHA:573
3892	KRT86	HP:0032152	Keratosis pilaris	-	OMIM:158000
3892	KRT86	HP:0008070	Sparse hair	HP:0040281	ORPHA:573
3892	KRT86	HP:0008070	Sparse hair	-	OMIM:158000
3892	KRT86	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:573
3892	KRT86	HP:0001596	Alopecia	-	OMIM:158000
3892	KRT86	HP:0000499	Abnormal eyelash morphology	HP:0040281	ORPHA:573
3892	KRT86	HP:0000518	Cataract	HP:0040283	ORPHA:573
3892	KRT86	HP:0000534	Abnormal eyebrow morphology	HP:0040281	ORPHA:573
3897	L1CAM	HP:0001188	Hand clenching	HP:0040281	ORPHA:2466
3897	L1CAM	HP:0001181	Adducted thumb	HP:0040283	ORPHA:306617
3897	L1CAM	HP:0001181	Adducted thumb	-	OMIM:303350
3897	L1CAM	HP:0001181	Adducted thumb	1/5	OMIM:307000
3897	L1CAM	HP:0001181	Adducted thumb	HP:0040282	ORPHA:2182
3897	L1CAM	HP:0002493	Upper motor neuron dysfunction	HP:0040282	ORPHA:306617
3897	L1CAM	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2182
3897	L1CAM	HP:0002410	Aqueductal stenosis	2/5	OMIM:307000
3897	L1CAM	HP:0002410	Aqueductal stenosis	HP:0040281	ORPHA:2182
3897	L1CAM	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:2466
3897	L1CAM	HP:0001274	Agenesis of corpus callosum	-	OMIM:303350
3897	L1CAM	HP:0001274	Agenesis of corpus callosum	-	OMIM:307000
3897	L1CAM	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:2182
3897	L1CAM	HP:0001268	Mental deterioration	HP:0040283	ORPHA:306617
3897	L1CAM	HP:0001288	Gait disturbance	HP:0040281	ORPHA:2466
3897	L1CAM	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:306617
3897	L1CAM	HP:0001250	Seizure	HP:0040281	ORPHA:1497
3897	L1CAM	HP:0001250	Seizure	-	OMIM:304100
3897	L1CAM	HP:0001250	Seizure	HP:0040283	ORPHA:2182
3897	L1CAM	HP:0001251	Ataxia	HP:0040283	ORPHA:306617
3897	L1CAM	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1497
3897	L1CAM	HP:0001249	Intellectual disability	5/5	OMIM:307000
3897	L1CAM	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2466
3897	L1CAM	HP:0001249	Intellectual disability	-	OMIM:304100
3897	L1CAM	HP:0001249	Intellectual disability	-	OMIM:303350
3897	L1CAM	HP:0001263	Global developmental delay	2/2	OMIM:304100
3897	L1CAM	HP:0001258	Spastic paraplegia	HP:0040281	ORPHA:306617
3897	L1CAM	HP:0001258	Spastic paraplegia	-	OMIM:303350
3897	L1CAM	HP:0001258	Spastic paraplegia	2/5	OMIM:307000
3897	L1CAM	HP:0001258	Spastic paraplegia	HP:0040281	ORPHA:2466
3897	L1CAM	HP:0001257	Spasticity	-	OMIM:304100
3897	L1CAM	HP:0001257	Spasticity	2/5	OMIM:307000
3897	L1CAM	HP:0001257	Spasticity	HP:0040281	ORPHA:2182
3897	L1CAM	HP:0001257	Spasticity	HP:0040282	ORPHA:1497
3897	L1CAM	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:306617
3897	L1CAM	HP:0002516	Increased intracranial pressure	HP:0040281	ORPHA:2182
3897	L1CAM	HP:0032327	Interhemispheric cyst	-	OMIM:304100
3897	L1CAM	HP:0001387	Joint stiffness	HP:0040283	ORPHA:2182
3897	L1CAM	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:2466
3897	L1CAM	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:2182
3897	L1CAM	HP:0001331	Absent septum pellucidum	-	OMIM:307000
3897	L1CAM	HP:0001331	Absent septum pellucidum	HP:0040283	ORPHA:2182
3897	L1CAM	HP:0001324	Muscle weakness	HP:0040282	ORPHA:1497
3897	L1CAM	HP:0001338	Partial agenesis of the corpus callosum	1/2	OMIM:304100
3897	L1CAM	HP:0001321	Cerebellar hypoplasia	-	OMIM:304100
3897	L1CAM	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:1497
3897	L1CAM	HP:0001419	X-linked recessive inheritance	-	OMIM:304100
3897	L1CAM	HP:0001419	X-linked recessive inheritance	-	OMIM:303350
3897	L1CAM	HP:0001419	X-linked recessive inheritance	-	OMIM:307000
3897	L1CAM	HP:0003307	Hyperlordosis	-	OMIM:303350
3897	L1CAM	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:306617
3897	L1CAM	HP:0002061	Lower limb spasticity	-	OMIM:303350
3897	L1CAM	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:304100
3897	L1CAM	HP:0002119	Ventriculomegaly	2/2	OMIM:304100
3897	L1CAM	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:2466
3897	L1CAM	HP:0002119	Ventriculomegaly	-	OMIM:303350
3897	L1CAM	HP:0009600	Thumb contracture	20/20	OMIM:307000
3897	L1CAM	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:2466
3897	L1CAM	HP:0010550	Paraplegia	-	OMIM:303350
3897	L1CAM	HP:0002251	Aganglionic megacolon	1/2	OMIM:304100
3897	L1CAM	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:1497
3897	L1CAM	HP:0007016	Corticospinal tract hypoplasia	-	OMIM:307000
3897	L1CAM	HP:0007068	Inferior cerebellar vermis hypoplasia	-	OMIM:304100
3897	L1CAM	HP:0002381	Aphasia	-	OMIM:303350
3897	L1CAM	HP:0002381	Aphasia	HP:0040281	ORPHA:2466
3897	L1CAM	HP:0002362	Shuffling gait	-	OMIM:303350
3897	L1CAM	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:306617
3897	L1CAM	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:2466
3897	L1CAM	HP:0000639	Nystagmus	HP:0040283	ORPHA:2182
3897	L1CAM	HP:0004322	Short stature	HP:0040281	ORPHA:2466
3897	L1CAM	HP:0004322	Short stature	-	OMIM:303350
3897	L1CAM	HP:0003083	Dislocated radial head	1/2	OMIM:304100
3897	L1CAM	HP:0004374	Hemiplegia/hemiparesis	HP:0040281	ORPHA:2182
3897	L1CAM	HP:0004374	Hemiplegia/hemiparesis	HP:0040281	ORPHA:2466
3897	L1CAM	HP:0034198	Second trimester onset	2/2	OMIM:304100
3897	L1CAM	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:2466
3897	L1CAM	HP:0000280	Coarse facial features	HP:0040283	ORPHA:2182
3897	L1CAM	HP:0000256	Macrocephaly	-	OMIM:307000
3897	L1CAM	HP:0000256	Macrocephaly	-	OMIM:303350
3897	L1CAM	HP:0002808	Kyphosis	-	OMIM:303350
3897	L1CAM	HP:0000238	Hydrocephalus	-	OMIM:304100
3897	L1CAM	HP:0000238	Hydrocephalus	7/7	OMIM:307000
3897	L1CAM	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:2182
3897	L1CAM	HP:0000238	Hydrocephalus	-	OMIM:303350
3897	L1CAM	HP:0000252	Microcephaly	HP:0040282	ORPHA:1497
3897	L1CAM	HP:0000252	Microcephaly	-	OMIM:304100
3897	L1CAM	HP:0000252	Microcephaly	-	OMIM:303350
3897	L1CAM	HP:0000218	High palate	1/2	OMIM:304100
3897	L1CAM	HP:0000486	Strabismus	1/2	OMIM:304100
3897	L1CAM	HP:0000486	Strabismus	HP:0040283	ORPHA:2182
3897	L1CAM	HP:0000486	Strabismus	-	OMIM:303350
3897	L1CAM	HP:0001763	Pes planus	2/2	OMIM:304100
3897	L1CAM	HP:0001762	Talipes equinovarus	-	OMIM:303350
3897	L1CAM	HP:0001761	Pes cavus	-	OMIM:303350
3899	AFF3	HP:0003763	Bruxism	1/18	OMIM:619297
3899	AFF3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3899	AFF3	HP:0001293	Cranial nerve compression	-	OMIM:131300
3899	AFF3	HP:0001285	Spastic tetraparesis	2/18	OMIM:619297
3899	AFF3	HP:0001252	Hypotonia	11/18	OMIM:619297
3899	AFF3	HP:0001252	Hypotonia	2/7	OMIM:615777
3899	AFF3	HP:0001249	Intellectual disability	18/18	OMIM:619297
3899	AFF3	HP:0001249	Intellectual disability	5/7	OMIM:615777
3899	AFF3	HP:0001263	Global developmental delay	18/18	OMIM:619297
3899	AFF3	HP:0001263	Global developmental delay	-	OMIM:615777
3899	AFF3	HP:0007359	Focal-onset seizure	2/18	OMIM:619297
3899	AFF3	HP:0002515	Waddling gait	54/102	OMIM:131300
3899	AFF3	HP:0000089	Renal hypoplasia	1/18	OMIM:619297
3899	AFF3	HP:0000085	Horseshoe kidney	13/17	OMIM:619297
3899	AFF3	HP:0001382	Joint hypermobility	-	OMIM:615777
3899	AFF3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3899	AFF3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3899	AFF3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3899	AFF3	HP:0001324	Muscle weakness	40/96	OMIM:131300
3899	AFF3	HP:0002673	Coxa valga	7/18	OMIM:619297
3899	AFF3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3899	AFF3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3899	AFF3	HP:0000006	Autosomal dominant inheritance	-	OMIM:619297
3899	AFF3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3899	AFF3	HP:0001336	Myoclonus	1/18	OMIM:619297
3899	AFF3	HP:0001305	Dandy-Walker malformation	1/18	OMIM:619297
3899	AFF3	HP:0002650	Scoliosis	8/18	OMIM:619297
3899	AFF3	HP:0002650	Scoliosis	12/14	OMIM:131300
3899	AFF3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3899	AFF3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3899	AFF3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3899	AFF3	HP:0000179	Thick lower lip vermilion	1/18	OMIM:619297
3899	AFF3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3899	AFF3	HP:0000175	Cleft palate	2/7	OMIM:615777
3899	AFF3	HP:0000154	Wide mouth	10/16	OMIM:619297
3899	AFF3	HP:0002714	Downturned corners of mouth	1/18	OMIM:619297
3899	AFF3	HP:0002020	Gastroesophageal reflux	6/16	OMIM:619297
3899	AFF3	HP:0005943	Respiratory arrest	2/18	OMIM:619297
3899	AFF3	HP:0002069	Bilateral tonic-clonic seizure	9/18	OMIM:619297
3899	AFF3	HP:0003388	Easy fatigability	36/76	OMIM:131300
3899	AFF3	HP:0010442	Polydactyly	1/18	OMIM:619297
3899	AFF3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3899	AFF3	HP:0002121	Generalized non-motor (absence) seizure	1/18	OMIM:619297
3899	AFF3	HP:0002119	Ventriculomegaly	13/15	OMIM:619297
3899	AFF3	HP:0100704	Cerebral visual impairment	1/18	OMIM:619297
3899	AFF3	HP:0200134	Epileptic encephalopathy	14/18	OMIM:619297
3899	AFF3	HP:0002280	Enlarged cisterna magna	1/18	OMIM:619297
3899	AFF3	HP:0003510	Severe short stature	7/7	OMIM:615777
3899	AFF3	HP:0002315	Headache	-	OMIM:131300
3899	AFF3	HP:0004976	Knee dislocation	6/7	OMIM:615777
3899	AFF3	HP:0009803	Short phalanx of finger	-	OMIM:615777
3899	AFF3	HP:0009763	Limb pain	63/92	OMIM:131300
3899	AFF3	HP:0009765	Low hanging columella	10/18	OMIM:619297
3899	AFF3	HP:0003621	Juvenile onset	-	OMIM:131300
3899	AFF3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3899	AFF3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3899	AFF3	HP:0000639	Nystagmus	1/18	OMIM:619297
3899	AFF3	HP:0000637	Long palpebral fissure	4/18	OMIM:619297
3899	AFF3	HP:6001056	Out-toeing	-	OMIM:131300
3899	AFF3	HP:0000651	Diplopia	-	OMIM:131300
3899	AFF3	HP:0001956	Truncal obesity	2/7	OMIM:615777
3899	AFF3	HP:0001903	Anemia	HP:0040283	OMIM:131300
3899	AFF3	HP:0010049	Short metacarpal	-	OMIM:615777
3899	AFF3	HP:0000678	Dental crowding	-	OMIM:615777
3899	AFF3	HP:0000687	Widely spaced teeth	6/18	OMIM:619297
3899	AFF3	HP:0000670	Carious teeth	-	OMIM:131300
3899	AFF3	HP:0011304	Broad thumb	2/7	OMIM:615777
3899	AFF3	HP:0000668	Hypodontia	-	OMIM:615777
3899	AFF3	HP:0000664	Synophrys	10/18	OMIM:619297
3899	AFF3	HP:0000664	Synophrys	-	OMIM:615777
3899	AFF3	HP:0004322	Short stature	3/18	OMIM:619297
3899	AFF3	HP:0003083	Dislocated radial head	3/18	OMIM:619297
3899	AFF3	HP:0004396	Poor appetite	-	OMIM:131300
3899	AFF3	HP:0003038	Fibular hypoplasia	12/16	OMIM:619297
3899	AFF3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3899	AFF3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3899	AFF3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3899	AFF3	HP:0003026	Short long bone	7/7	OMIM:615777
3899	AFF3	HP:0003027	Mesomelia	12/18	OMIM:619297
3899	AFF3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3899	AFF3	HP:0012745	Short palpebral fissure	1/18	OMIM:619297
3899	AFF3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3899	AFF3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3899	AFF3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3899	AFF3	HP:0000733	Motor stereotypy	1/18	OMIM:619297
3899	AFF3	HP:0000750	Delayed speech and language development	-	OMIM:615777
3899	AFF3	HP:0000729	Autistic behavior	1/18	OMIM:619297
3899	AFF3	HP:0011461	Fetal onset	7/7	OMIM:615777
3899	AFF3	HP:0011451	Primary microcephaly	9/18	OMIM:619297
3899	AFF3	HP:0000774	Narrow chest	2/7	OMIM:615777
3899	AFF3	HP:0000926	Platyspondyly	1/7	OMIM:615777
3899	AFF3	HP:0003180	Flat acetabular roof	-	OMIM:615777
3899	AFF3	HP:0004482	Relative macrocephaly	-	OMIM:615777
3899	AFF3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3899	AFF3	HP:0000891	Cervical ribs	1/18	OMIM:619297
3899	AFF3	HP:0000823	Delayed puberty	-	OMIM:131300
3899	AFF3	HP:0010296	Ankyloglossia	2/18	OMIM:619297
3899	AFF3	HP:0000894	Short clavicles	-	OMIM:615777
3899	AFF3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3899	AFF3	HP:0000998	Hypertrichosis	22/33	OMIM:619297
3899	AFF3	HP:0000954	Single transverse palmar crease	1/18	OMIM:619297
3899	AFF3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3899	AFF3	HP:0000960	Sacral dimple	4/18	OMIM:619297
3899	AFF3	HP:0000938	Osteopenia	6/17	OMIM:619297
3899	AFF3	HP:0005815	Supernumerary ribs	1/18	OMIM:619297
3899	AFF3	HP:0000286	Epicanthus	1/7	OMIM:615777
3899	AFF3	HP:0000280	Coarse facial features	2/7	OMIM:615777
3899	AFF3	HP:0002827	Hip dislocation	3/18	OMIM:619297
3899	AFF3	HP:0002827	Hip dislocation	3/7	OMIM:615777
3899	AFF3	HP:0000252	Microcephaly	11/18	OMIM:619297
3899	AFF3	HP:0000252	Microcephaly	-	OMIM:615777
3899	AFF3	HP:0000219	Thin upper lip vermilion	4/18	OMIM:619297
3899	AFF3	HP:0000212	Gingival overgrowth	1/18	OMIM:619297
3899	AFF3	HP:0002857	Genu valgum	-	OMIM:131300
3899	AFF3	HP:0001522	Death in infancy	1/18	OMIM:619297
3899	AFF3	HP:0001533	Slender build	-	OMIM:131300
3899	AFF3	HP:0001508	Failure to thrive	14/18	OMIM:619297
3899	AFF3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3899	AFF3	HP:0007807	Optic nerve compression	-	OMIM:131300
3899	AFF3	HP:0012368	Flat face	7/7	OMIM:615777
3899	AFF3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3899	AFF3	HP:0000365	Hearing impairment	10/67	OMIM:131300
3899	AFF3	HP:0000369	Low-set ears	3/18	OMIM:619297
3899	AFF3	HP:0000343	Long philtrum	1/7	OMIM:615777
3899	AFF3	HP:0011001	Increased bone mineral density	-	OMIM:131300
3899	AFF3	HP:0000347	Micrognathia	6/18	OMIM:619297
3899	AFF3	HP:0000319	Smooth philtrum	3/17	OMIM:619297
3899	AFF3	HP:0000316	Hypertelorism	1/18	OMIM:619297
3899	AFF3	HP:0000311	Round face	2/7	OMIM:615777
3899	AFF3	HP:0000322	Short philtrum	7/17	OMIM:619297
3899	AFF3	HP:0002970	Genu varum	-	OMIM:615777
3899	AFF3	HP:0000303	Mandibular prognathia	2/18	OMIM:619297
3899	AFF3	HP:0000303	Mandibular prognathia	-	OMIM:131300
3899	AFF3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3899	AFF3	HP:0000486	Strabismus	7/18	OMIM:619297
3899	AFF3	HP:0012444	Brain atrophy	13/15	OMIM:619297
3899	AFF3	HP:0012450	Chronic constipation	10/18	OMIM:619297
3899	AFF3	HP:0000470	Short neck	2/18	OMIM:619297
3899	AFF3	HP:0000470	Short neck	1/7	OMIM:615777
3899	AFF3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3899	AFF3	HP:0001763	Pes planus	2/18	OMIM:619297
3899	AFF3	HP:0001763	Pes planus	1/7	OMIM:615777
3899	AFF3	HP:0000414	Bulbous nose	15/33	OMIM:619297
3899	AFF3	HP:0001840	Metatarsus adductus	-	OMIM:615777
3899	AFF3	HP:0000520	Proptosis	2/4	OMIM:131300
3899	AFF3	HP:0000520	Proptosis	7/7	OMIM:615777
3899	AFF3	HP:0000592	Blue sclerae	2/7	OMIM:615777
3899	AFF3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3899	AFF3	HP:0012514	Lower limb pain	4/4	OMIM:131300
3908	LAMA2	HP:0002446	Astrocytosis	HP:0040282	ORPHA:258
3908	LAMA2	HP:0003722	Neck flexor weakness	1/5	OMIM:618138
3908	LAMA2	HP:0003710	Exercise-induced muscle cramps	1/5	OMIM:618138
3908	LAMA2	HP:0001270	Motor delay	1/5	OMIM:618138
3908	LAMA2	HP:0001270	Motor delay	9/9	OMIM:607855
3908	LAMA2	HP:0001270	Motor delay	HP:0040281	ORPHA:258
3908	LAMA2	HP:0001284	Areflexia	1/1	OMIM:618138
3908	LAMA2	HP:0001284	Areflexia	-	OMIM:607855
3908	LAMA2	HP:0001250	Seizure	HP:0040282	ORPHA:258
3908	LAMA2	HP:0001250	Seizure	4/5	OMIM:618138
3908	LAMA2	HP:0001250	Seizure	4/9	OMIM:607855
3908	LAMA2	HP:0001252	Hypotonia	HP:0040281	ORPHA:258
3908	LAMA2	HP:0001252	Hypotonia	9/9	OMIM:607855
3908	LAMA2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:258
3908	LAMA2	HP:0001249	Intellectual disability	HP:0040283	OMIM:607855
3908	LAMA2	HP:6000659	Elevated muscle fiber laminin alpha 5 expression	-	OMIM:618138
3908	LAMA2	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:258
3908	LAMA2	HP:0002540	Inability to walk	HP:0040281	ORPHA:258
3908	LAMA2	HP:0002536	Abnormal cortical gyration	-	OMIM:607855
3908	LAMA2	HP:0002515	Waddling gait	1/5	OMIM:618138
3908	LAMA2	HP:0002500	Abnormal cerebral white matter morphology	6/6	OMIM:618138
3908	LAMA2	HP:0001371	Flexion contracture	HP:0040282	ORPHA:258
3908	LAMA2	HP:0001371	Flexion contracture	5/9	OMIM:607855
3908	LAMA2	HP:0008872	Feeding difficulties in infancy	-	OMIM:607855
3908	LAMA2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:258
3908	LAMA2	HP:0001324	Muscle weakness	9/9	OMIM:607855
3908	LAMA2	HP:0001339	Lissencephaly	HP:0040283	ORPHA:258
3908	LAMA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618138
3908	LAMA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:607855
3908	LAMA2	HP:0001302	Pachygyria	HP:0040283	ORPHA:258
3908	LAMA2	HP:0002650	Scoliosis	HP:0040283	ORPHA:258
3908	LAMA2	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:258
3908	LAMA2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:258
3908	LAMA2	HP:0000194	Open mouth	HP:0040283	ORPHA:258
3908	LAMA2	HP:0000158	Macroglossia	HP:0040282	ORPHA:258
3908	LAMA2	HP:0008994	Proximal muscle weakness in lower limbs	6/6	OMIM:618138
3908	LAMA2	HP:0008997	Proximal muscle weakness in upper limbs	1/1	OMIM:618138
3908	LAMA2	HP:0008981	Calf muscle hypertrophy	3/5	OMIM:618138
3908	LAMA2	HP:0002783	Recurrent lower respiratory tract infections	HP:0040282	ORPHA:258
3908	LAMA2	HP:0002791	Hypoventilation	HP:0040283	ORPHA:258
3908	LAMA2	HP:0002751	Kyphoscoliosis	2/9	OMIM:607855
3908	LAMA2	HP:0031237	Internally nucleated skeletal muscle fibers	1/1	OMIM:618138
3908	LAMA2	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:607855
3908	LAMA2	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:258
3908	LAMA2	HP:0002015	Dysphagia	HP:0040283	ORPHA:258
3908	LAMA2	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:258
3908	LAMA2	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:258
3908	LAMA2	HP:0002092	Pulmonary arterial hypertension	HP:0040284	ORPHA:258
3908	LAMA2	HP:0002093	Respiratory insufficiency	HP:0040284	ORPHA:258
3908	LAMA2	HP:0003391	Gowers sign	6/6	OMIM:618138
3908	LAMA2	HP:0002058	Myopathic facies	HP:0040283	ORPHA:258
3908	LAMA2	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:258
3908	LAMA2	HP:0003457	EMG abnormality	HP:0040282	ORPHA:258
3908	LAMA2	HP:0002181	Cerebral edema	HP:0040282	ORPHA:258
3908	LAMA2	HP:0003577	Congenital onset	9/9	OMIM:607855
3908	LAMA2	HP:0003581	Adult onset	3/5	OMIM:618138
3908	LAMA2	HP:0003551	Difficulty climbing stairs	3/6	OMIM:618138
3908	LAMA2	HP:0004878	Intercostal muscle weakness	HP:0040283	ORPHA:258
3908	LAMA2	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:258
3908	LAMA2	HP:0003560	Muscular dystrophy	-	OMIM:607855
3908	LAMA2	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:618138
3908	LAMA2	HP:0100750	Atelectasis	HP:0040283	ORPHA:258
3908	LAMA2	HP:0010628	Facial palsy	HP:0040282	ORPHA:258
3908	LAMA2	HP:0002375	Hypokinesia	HP:0040281	ORPHA:258
3908	LAMA2	HP:0003677	Slowly progressive	-	OMIM:618138
3908	LAMA2	HP:0010808	Protruding tongue	HP:0040283	ORPHA:258
3908	LAMA2	HP:0100614	Myositis	HP:0040281	ORPHA:258
3908	LAMA2	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:258
3908	LAMA2	HP:0007141	Sensorimotor neuropathy	1/1	OMIM:618138
3908	LAMA2	HP:0010754	Abnormality of the temporomandibular joint	HP:0040282	ORPHA:258
3908	LAMA2	HP:0007103	Hypointensity of cerebral white matter on MRI	-	OMIM:607855
3908	LAMA2	HP:0003621	Juvenile onset	1/5	OMIM:618138
3908	LAMA2	HP:0006879	Pontocerebellar atrophy	HP:0040283	ORPHA:258
3908	LAMA2	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:258
3908	LAMA2	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:258
3908	LAMA2	HP:0000602	Ophthalmoplegia	HP:0040283	OMIM:607855
3908	LAMA2	HP:0009046	Difficulty running	1/1	OMIM:618138
3908	LAMA2	HP:0012664	Reduced left ventricular ejection fraction	HP:0040283	ORPHA:258
3908	LAMA2	HP:0009025	Increased connective tissue	HP:0040281	ORPHA:258
3908	LAMA2	HP:0004325	Decreased body weight	HP:0040283	ORPHA:258
3908	LAMA2	HP:0031936	Delayed ability to walk	1/5	OMIM:618138
3908	LAMA2	HP:0012747	Abnormal brainstem MRI signal intensity	HP:0040282	ORPHA:258
3908	LAMA2	HP:0000762	Decreased nerve conduction velocity	1/1	OMIM:618138
3908	LAMA2	HP:0011463	Childhood onset	1/5	OMIM:618138
3908	LAMA2	HP:0040078	Axonal degeneration	1/1	OMIM:618138
3908	LAMA2	HP:0003236	Elevated circulating creatine kinase concentration	6/6	OMIM:618138
3908	LAMA2	HP:0003236	Elevated circulating creatine kinase concentration	9/9	OMIM:607855
3908	LAMA2	HP:0100295	Muscle fiber atrophy	HP:0040281	ORPHA:258
3908	LAMA2	HP:0100297	Increased endomysial connective tissue	-	OMIM:607855
3908	LAMA2	HP:0011675	Arrhythmia	HP:0040283	ORPHA:258
3908	LAMA2	HP:0002808	Kyphosis	1/1	OMIM:618138
3908	LAMA2	HP:0030091	Absent muscle fiber merosin	HP:0040281	ORPHA:258
3908	LAMA2	HP:0002878	Respiratory failure	HP:0040281	ORPHA:258
3908	LAMA2	HP:0002835	Aspiration	HP:0040282	ORPHA:258
3908	LAMA2	HP:0005216	Impaired mastication	HP:0040282	ORPHA:258
3908	LAMA2	HP:0001612	Weak cry	HP:0040281	ORPHA:258
3908	LAMA2	HP:0002987	Elbow flexion contracture	1/1	OMIM:618138
3908	LAMA2	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:258
3908	LAMA2	HP:0030234	Highly elevated creatine kinase	HP:0040281	ORPHA:258
3909	LAMA3	HP:0001159	Syndactyly	0/1	OMIM:226700
3909	LAMA3	HP:0100803	Abnormal periungual morphology	HP:0040282	ORPHA:2407
3909	LAMA3	HP:0100806	Sepsis	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0001250	Seizure	HP:0040284	ORPHA:79404
3909	LAMA3	HP:0008777	Abnormal vocal cord morphology	HP:0040283	ORPHA:2407
3909	LAMA3	HP:0007383	Congenital localized absence of skin	-	OMIM:226700
3909	LAMA3	HP:0008682	Renal tubular epithelial necrosis	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0006000	Ureteral obstruction	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0001211	Abnormal fingertip morphology	HP:0040282	ORPHA:79404
3909	LAMA3	HP:0003819	Death in childhood	1/1	OMIM:619784
3909	LAMA3	HP:0000081	Duplicated collecting system	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0000072	Hydroureter	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0000070	Ureterocele	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0033804	Subepidermal blistering	1/2	OMIM:619783
3909	LAMA3	HP:0000014	Abnormality of the bladder	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0000016	Urinary retention	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0000007	Autosomal recessive inheritance	-	OMIM:245660
3909	LAMA3	HP:0000007	Autosomal recessive inheritance	-	OMIM:226700
3909	LAMA3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619784
3909	LAMA3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619783
3909	LAMA3	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0006297	Enamel hypoplasia	HP:0040281	ORPHA:79404
3909	LAMA3	HP:0006297	Enamel hypoplasia	6/6	OMIM:245660
3909	LAMA3	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:79402
3909	LAMA3	HP:0006297	Enamel hypoplasia	HP:0040282	ORPHA:2407
3909	LAMA3	HP:0006297	Enamel hypoplasia	-	OMIM:226700
3909	LAMA3	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0000107	Renal cyst	HP:0040283	ORPHA:79404
3909	LAMA3	HP:6000956	Exuberant granulation tissue	HP:0040282	ORPHA:2407
3909	LAMA3	HP:0002021	Pyloric stenosis	-	OMIM:226700
3909	LAMA3	HP:0002019	Constipation	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0002013	Vomiting	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0003341	Lamina lucida cleavage	1/1	OMIM:226700
3909	LAMA3	HP:0003341	Lamina lucida cleavage	1/1	OMIM:619784
3909	LAMA3	HP:0002087	Abnormality of the upper respiratory tract	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0002098	Respiratory distress	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0002094	Dyspnea	HP:0040282	ORPHA:79404
3909	LAMA3	HP:0002090	Pneumonia	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0002043	Esophageal stricture	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0100518	Dysuria	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0010476	Aplasia/Hypoplasia of the bladder	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0002107	Pneumothorax	HP:0040284	ORPHA:79404
3909	LAMA3	HP:0002164	Nail dysplasia	-	OMIM:226700
3909	LAMA3	HP:0011830	Abnormal oral mucosa morphology	HP:0040281	ORPHA:79404
3909	LAMA3	HP:0003577	Congenital onset	2/2	OMIM:619784
3909	LAMA3	HP:0003577	Congenital onset	2/2	OMIM:619783
3909	LAMA3	HP:0003577	Congenital onset	1/1	OMIM:226700
3909	LAMA3	HP:0002231	Sparse body hair	HP:0040281	ORPHA:79402
3909	LAMA3	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0008404	Nail dystrophy	6/6	OMIM:245660
3909	LAMA3	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:79402
3909	LAMA3	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:2407
3909	LAMA3	HP:0008404	Nail dystrophy	-	OMIM:226700
3909	LAMA3	HP:0200097	Oral mucosal blisters	HP:0040281	ORPHA:79402
3909	LAMA3	HP:0200097	Oral mucosal blisters	2/2	OMIM:619784
3909	LAMA3	HP:0200097	Oral mucosal blisters	1/2	OMIM:619783
3909	LAMA3	HP:0200097	Oral mucosal blisters	HP:0040282	ORPHA:2407
3909	LAMA3	HP:0004840	Hypochromic microcytic anemia	HP:0040283	ORPHA:2407
3909	LAMA3	HP:0430007	Symblepharon	HP:0040282	ORPHA:2407
3909	LAMA3	HP:0430007	Symblepharon	1/6	OMIM:245660
3909	LAMA3	HP:0008390	Recurrent loss of toenails and fingernails	-	OMIM:245660
3909	LAMA3	HP:0001056	Milia	HP:0040281	ORPHA:79402
3909	LAMA3	HP:0001056	Milia	-	OMIM:226700
3909	LAMA3	HP:0001057	Aplasia cutis congenita	HP:0040281	ORPHA:79402
3909	LAMA3	HP:0001057	Aplasia cutis congenita	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0001030	Fragile skin	HP:0040281	ORPHA:79404
3909	LAMA3	HP:0001030	Fragile skin	HP:0040282	ORPHA:2407
3909	LAMA3	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:79402
3909	LAMA3	HP:0200020	Corneal erosion	HP:0040282	ORPHA:2407
3909	LAMA3	HP:0200035	Skin plaque	HP:0040281	ORPHA:79404
3909	LAMA3	HP:0001075	Atrophic scars	HP:0040281	ORPHA:79402
3909	LAMA3	HP:0001075	Atrophic scars	-	OMIM:226700
3909	LAMA3	HP:0200042	Skin ulcer	-	OMIM:245660
3909	LAMA3	HP:0200042	Skin ulcer	HP:0040281	ORPHA:2407
3909	LAMA3	HP:0200041	Skin erosion	HP:0040281	ORPHA:79404
3909	LAMA3	HP:0200041	Skin erosion	HP:0040282	ORPHA:2407
3909	LAMA3	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	HP:0040281	ORPHA:79404
3909	LAMA3	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	1/1	OMIM:619784
3909	LAMA3	HP:0003623	Neonatal onset	6/6	OMIM:245660
3909	LAMA3	HP:0001944	Dehydration	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0001955	Unexplained fevers	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0001903	Anemia	HP:0040282	ORPHA:79404
3909	LAMA3	HP:0001903	Anemia	HP:0040282	ORPHA:79402
3909	LAMA3	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:2407
3909	LAMA3	HP:0000691	Microdontia	HP:0040282	ORPHA:2407
3909	LAMA3	HP:0000670	Carious teeth	HP:0040282	ORPHA:2407
3909	LAMA3	HP:0000670	Carious teeth	-	OMIM:226700
3909	LAMA3	HP:0004386	Gastrointestinal inflammation	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0004395	Malnutrition	HP:0040282	ORPHA:79404
3909	LAMA3	HP:0000705	Amelogenesis imperfecta	-	OMIM:245660
3909	LAMA3	HP:0003111	Abnormal blood ion concentration	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0012804	Corneal ulceration	HP:0040282	ORPHA:2407
3909	LAMA3	HP:0004552	Scarring alopecia of scalp	HP:0040281	ORPHA:79402
3909	LAMA3	HP:0000999	Pyoderma	HP:0040284	ORPHA:79404
3909	LAMA3	HP:0010307	Stridor	HP:0040282	ORPHA:79404
3909	LAMA3	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:79402
3909	LAMA3	HP:0000969	Edema	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0000939	Osteoporosis	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0034363	Corneal pterygium	6/6	OMIM:245660
3909	LAMA3	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79404
3909	LAMA3	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79402
3909	LAMA3	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:2407
3909	LAMA3	HP:0008066	Abnormal blistering of the skin	1/1	OMIM:226700
3909	LAMA3	HP:0008066	Abnormal blistering of the skin	2/2	OMIM:619784
3909	LAMA3	HP:0008066	Abnormal blistering of the skin	2/2	OMIM:619783
3909	LAMA3	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:79404
3909	LAMA3	HP:0001596	Alopecia	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0012227	Urethral stricture	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:79404
3909	LAMA3	HP:0002878	Respiratory failure	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0001522	Death in infancy	-	OMIM:226700
3909	LAMA3	HP:0001522	Death in infancy	1/1	OMIM:619784
3909	LAMA3	HP:0001508	Failure to thrive	HP:0040281	ORPHA:79404
3909	LAMA3	HP:0001508	Failure to thrive	-	OMIM:226700
3909	LAMA3	HP:0001510	Growth delay	HP:0040281	ORPHA:79404
3909	LAMA3	HP:0001510	Growth delay	HP:0040283	ORPHA:79402
3909	LAMA3	HP:0001607	Subglottic stenosis	HP:0040281	ORPHA:2407
3909	LAMA3	HP:0001609	Hoarse voice	HP:0040282	ORPHA:79404
3909	LAMA3	HP:0001609	Hoarse voice	HP:0040282	ORPHA:2407
3909	LAMA3	HP:0001602	Laryngeal stenosis	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0001615	Hoarse cry	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0001615	Hoarse cry	6/6	OMIM:245660
3909	LAMA3	HP:0001612	Weak cry	-	OMIM:245660
3909	LAMA3	HP:0031446	Erosion of oral mucosa	HP:0040282	ORPHA:79404
3909	LAMA3	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0001662	Bradycardia	HP:0040284	ORPHA:79404
3909	LAMA3	HP:0004057	Mitten deformity	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0005348	Inspiratory stridor	HP:0040282	ORPHA:2407
3909	LAMA3	HP:0000481	Abnormal cornea morphology	HP:0040283	ORPHA:79404
3909	LAMA3	HP:0001798	Anonychia	HP:0040282	ORPHA:79404
3909	LAMA3	HP:0001798	Anonychia	HP:0040282	ORPHA:79402
3909	LAMA3	HP:0000421	Epistaxis	HP:0040283	ORPHA:2407
3909	LAMA3	HP:0000505	Visual impairment	HP:0040283	ORPHA:2407
3909	LAMA3	HP:0001818	Paronychia	HP:0040282	ORPHA:79404
3910	LAMA4	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
3910	LAMA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:615235
3910	LAMA4	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
3910	LAMA4	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
3910	LAMA4	HP:0003596	Middle age onset	1/3	OMIM:615235
3910	LAMA4	HP:0003584	Late onset	1/3	OMIM:615235
3910	LAMA4	HP:0012664	Reduced left ventricular ejection fraction	3/3	OMIM:615235
3910	LAMA4	HP:0011462	Young adult onset	1/3	OMIM:615235
3910	LAMA4	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
3910	LAMA4	HP:0003198	Myopathy	HP:0040283	ORPHA:154
3910	LAMA4	HP:0000969	Edema	HP:0040282	ORPHA:154
3910	LAMA4	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
3910	LAMA4	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
3910	LAMA4	HP:0012378	Fatigue	HP:0040282	ORPHA:154
3910	LAMA4	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
3910	LAMA4	HP:0001644	Dilated cardiomyopathy	3/3	OMIM:615235
3910	LAMA4	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
3910	LAMA4	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
3910	LAMA4	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
3911	LAMA5	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
3911	LAMA5	HP:0003774	Stage 5 chronic kidney disease	1/6	OMIM:620049
3911	LAMA5	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3911	LAMA5	HP:0001293	Cranial nerve compression	-	OMIM:131300
3911	LAMA5	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
3911	LAMA5	HP:0001252	Hypotonia	2/7	OMIM:615777
3911	LAMA5	HP:0001249	Intellectual disability	5/7	OMIM:615777
3911	LAMA5	HP:0001263	Global developmental delay	-	OMIM:615777
3911	LAMA5	HP:0003865	Bowed humerus	2/3	OMIM:620076
3911	LAMA5	HP:0002515	Waddling gait	54/102	OMIM:131300
3911	LAMA5	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
3911	LAMA5	HP:0000097	Focal segmental glomerulosclerosis	2/2	OMIM:620049
3911	LAMA5	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
3911	LAMA5	HP:0000054	Micropenis	1/1	OMIM:620076
3911	LAMA5	HP:0001382	Joint hypermobility	-	OMIM:615777
3911	LAMA5	HP:0000049	Shawl scrotum	1/1	OMIM:620076
3911	LAMA5	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3911	LAMA5	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3911	LAMA5	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3911	LAMA5	HP:0001324	Muscle weakness	40/96	OMIM:131300
3911	LAMA5	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3911	LAMA5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3911	LAMA5	HP:0000007	Autosomal recessive inheritance	-	OMIM:620049
3911	LAMA5	HP:0000007	Autosomal recessive inheritance	-	OMIM:620076
3911	LAMA5	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3911	LAMA5	HP:0002650	Scoliosis	12/14	OMIM:131300
3911	LAMA5	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3911	LAMA5	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3911	LAMA5	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3911	LAMA5	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3911	LAMA5	HP:0000175	Cleft palate	2/7	OMIM:615777
3911	LAMA5	HP:0000100	Nephrotic syndrome	6/6	OMIM:620049
3911	LAMA5	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
3911	LAMA5	HP:0003316	Butterfly vertebrae	1/3	OMIM:620076
3911	LAMA5	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
3911	LAMA5	HP:0003388	Easy fatigability	36/76	OMIM:131300
3911	LAMA5	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3911	LAMA5	HP:0009487	Ulnar deviation of the hand	3/3	OMIM:620076
3911	LAMA5	HP:0003417	Coronal cleft vertebrae	2/3	OMIM:620076
3911	LAMA5	HP:0003577	Congenital onset	3/3	OMIM:620076
3911	LAMA5	HP:0002240	Hepatomegaly	1/3	OMIM:620076
3911	LAMA5	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
3911	LAMA5	HP:0003510	Severe short stature	7/7	OMIM:615777
3911	LAMA5	HP:0002315	Headache	-	OMIM:131300
3911	LAMA5	HP:0002315	Headache	HP:0040283	ORPHA:656
3911	LAMA5	HP:0004976	Knee dislocation	6/7	OMIM:615777
3911	LAMA5	HP:0009803	Short phalanx of finger	-	OMIM:615777
3911	LAMA5	HP:0009763	Limb pain	63/92	OMIM:131300
3911	LAMA5	HP:0003621	Juvenile onset	-	OMIM:131300
3911	LAMA5	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3911	LAMA5	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3911	LAMA5	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
3911	LAMA5	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
3911	LAMA5	HP:6001056	Out-toeing	-	OMIM:131300
3911	LAMA5	HP:0000651	Diplopia	-	OMIM:131300
3911	LAMA5	HP:0001945	Fever	HP:0040283	ORPHA:656
3911	LAMA5	HP:0001956	Truncal obesity	2/7	OMIM:615777
3911	LAMA5	HP:0001903	Anemia	HP:0040283	OMIM:131300
3911	LAMA5	HP:0010049	Short metacarpal	-	OMIM:615777
3911	LAMA5	HP:0010034	Short 1st metacarpal	1/3	OMIM:620076
3911	LAMA5	HP:0000678	Dental crowding	-	OMIM:615777
3911	LAMA5	HP:0000670	Carious teeth	-	OMIM:131300
3911	LAMA5	HP:0011304	Broad thumb	2/7	OMIM:615777
3911	LAMA5	HP:0000668	Hypodontia	-	OMIM:615777
3911	LAMA5	HP:0000664	Synophrys	-	OMIM:615777
3911	LAMA5	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
3911	LAMA5	HP:0004396	Poor appetite	-	OMIM:131300
3911	LAMA5	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3911	LAMA5	HP:0003031	Ulnar bowing	3/3	OMIM:620076
3911	LAMA5	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3911	LAMA5	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3911	LAMA5	HP:0003026	Short long bone	7/7	OMIM:615777
3911	LAMA5	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3911	LAMA5	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3911	LAMA5	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3911	LAMA5	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3911	LAMA5	HP:0000737	Irritability	HP:0040283	ORPHA:656
3911	LAMA5	HP:0000750	Delayed speech and language development	-	OMIM:615777
3911	LAMA5	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
3911	LAMA5	HP:0011463	Childhood onset	6/6	OMIM:620049
3911	LAMA5	HP:0011461	Fetal onset	7/7	OMIM:615777
3911	LAMA5	HP:0000774	Narrow chest	2/7	OMIM:615777
3911	LAMA5	HP:0000773	Short ribs	1/3	OMIM:620076
3911	LAMA5	HP:0005736	Short tibia	3/3	OMIM:620076
3911	LAMA5	HP:0000926	Platyspondyly	3/3	OMIM:620076
3911	LAMA5	HP:0000926	Platyspondyly	1/7	OMIM:615777
3911	LAMA5	HP:0003180	Flat acetabular roof	-	OMIM:615777
3911	LAMA5	HP:0004482	Relative macrocephaly	2/3	OMIM:620076
3911	LAMA5	HP:0004482	Relative macrocephaly	-	OMIM:615777
3911	LAMA5	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3911	LAMA5	HP:0000879	Short sternum	2/3	OMIM:620076
3911	LAMA5	HP:0000883	Thin ribs	1/3	OMIM:620076
3911	LAMA5	HP:0000823	Delayed puberty	-	OMIM:131300
3911	LAMA5	HP:0000894	Short clavicles	-	OMIM:615777
3911	LAMA5	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3911	LAMA5	HP:0003274	Hypoplastic acetabulae	3/3	OMIM:620076
3911	LAMA5	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3911	LAMA5	HP:0000969	Edema	HP:0040281	ORPHA:656
3911	LAMA5	HP:0000938	Osteopenia	3/3	OMIM:620076
3911	LAMA5	HP:0000286	Epicanthus	1/7	OMIM:615777
3911	LAMA5	HP:0000280	Coarse facial features	2/7	OMIM:615777
3911	LAMA5	HP:0002827	Hip dislocation	3/7	OMIM:615777
3911	LAMA5	HP:0002804	Arthrogryposis multiplex congenita	3/3	OMIM:620076
3911	LAMA5	HP:0006385	Short lower limbs	2/3	OMIM:620076
3911	LAMA5	HP:0000252	Microcephaly	-	OMIM:615777
3911	LAMA5	HP:0002857	Genu valgum	-	OMIM:131300
3911	LAMA5	HP:0001533	Slender build	-	OMIM:131300
3911	LAMA5	HP:0002866	Hypoplastic iliac wing	1/3	OMIM:620076
3911	LAMA5	HP:0001511	Intrauterine growth retardation	3/3	OMIM:620076
3911	LAMA5	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3911	LAMA5	HP:0007807	Optic nerve compression	-	OMIM:131300
3911	LAMA5	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
3911	LAMA5	HP:0012368	Flat face	7/7	OMIM:615777
3911	LAMA5	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3911	LAMA5	HP:0000365	Hearing impairment	10/67	OMIM:131300
3911	LAMA5	HP:0000343	Long philtrum	1/7	OMIM:615777
3911	LAMA5	HP:0011001	Increased bone mineral density	-	OMIM:131300
3911	LAMA5	HP:0002980	Femoral bowing	1/3	OMIM:620076
3911	LAMA5	HP:0000311	Round face	2/7	OMIM:615777
3911	LAMA5	HP:0002970	Genu varum	-	OMIM:615777
3911	LAMA5	HP:0001631	Atrial septal defect	1/3	OMIM:620076
3911	LAMA5	HP:0000303	Mandibular prognathia	-	OMIM:131300
3911	LAMA5	HP:0006610	Wide intermamillary distance	2/3	OMIM:620076
3911	LAMA5	HP:0005280	Depressed nasal bridge	2/3	OMIM:620076
3911	LAMA5	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3911	LAMA5	HP:0000476	Cystic hygroma	1/3	OMIM:620076
3911	LAMA5	HP:0000474	Thickened nuchal skin fold	1/3	OMIM:620076
3911	LAMA5	HP:0000470	Short neck	3/3	OMIM:620076
3911	LAMA5	HP:0000470	Short neck	1/7	OMIM:615777
3911	LAMA5	HP:0000465	Webbed neck	2/3	OMIM:620076
3911	LAMA5	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3911	LAMA5	HP:0001763	Pes planus	1/7	OMIM:615777
3911	LAMA5	HP:0001762	Talipes equinovarus	3/3	OMIM:620076
3911	LAMA5	HP:0005474	Decreased calvarial ossification	3/3	OMIM:620076
3911	LAMA5	HP:0001840	Metatarsus adductus	-	OMIM:615777
3911	LAMA5	HP:0000520	Proptosis	2/4	OMIM:131300
3911	LAMA5	HP:0000520	Proptosis	7/7	OMIM:615777
3911	LAMA5	HP:0012588	Steroid-resistant nephrotic syndrome	2/6	OMIM:620049
3911	LAMA5	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
3911	LAMA5	HP:0000592	Blue sclerae	2/7	OMIM:615777
3911	LAMA5	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3911	LAMA5	HP:0012514	Lower limb pain	4/4	OMIM:131300
3912	LAMB1	HP:0007260	Type II lissencephaly	4/4	OMIM:615191
3912	LAMB1	HP:0007260	Type II lissencephaly	HP:0040282	ORPHA:352682
3912	LAMB1	HP:0001270	Motor delay	4/4	OMIM:615191
3912	LAMB1	HP:0001250	Seizure	4/4	OMIM:615191
3912	LAMB1	HP:0001250	Seizure	HP:0040283	ORPHA:352682
3912	LAMB1	HP:0001252	Hypotonia	3/4	OMIM:615191
3912	LAMB1	HP:0001249	Intellectual disability	4/4	OMIM:615191
3912	LAMB1	HP:0001263	Global developmental delay	-	OMIM:615191
3912	LAMB1	HP:0001258	Spastic paraplegia	-	OMIM:615191
3912	LAMB1	HP:0032398	Dysgyria	HP:0040282	ORPHA:352682
3912	LAMB1	HP:0002500	Abnormal cerebral white matter morphology	4/4	OMIM:615191
3912	LAMB1	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:352682
3912	LAMB1	HP:0032409	Subcortical band heterotopia	-	OMIM:615191
3912	LAMB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615191
3912	LAMB1	HP:0001320	Cerebellar vermis hypoplasia	4/4	OMIM:615191
3912	LAMB1	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:352682
3912	LAMB1	HP:0002085	Occipital encephalocele	3/4	OMIM:615191
3912	LAMB1	HP:0002085	Occipital encephalocele	HP:0040282	ORPHA:352682
3912	LAMB1	HP:0002079	Hypoplasia of the corpus callosum	3/4	OMIM:615191
3912	LAMB1	HP:0002132	Porencephalic cyst	-	OMIM:615191
3912	LAMB1	HP:0003457	EMG abnormality	-	ORPHA:352682
3912	LAMB1	HP:0002282	Gray matter heterotopia	-	OMIM:615191
3912	LAMB1	HP:0002282	Gray matter heterotopia	HP:0040282	ORPHA:352682
3912	LAMB1	HP:0002365	Hypoplasia of the brainstem	4/4	OMIM:615191
3912	LAMB1	HP:0002365	Hypoplasia of the brainstem	HP:0040282	ORPHA:352682
3912	LAMB1	HP:0003676	Progressive	-	OMIM:615191
3912	LAMB1	HP:0002352	Leukoencephalopathy	-	OMIM:615191
3912	LAMB1	HP:0000648	Optic atrophy	2/4	OMIM:615191
3912	LAMB1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:352682
3912	LAMB1	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:352682
3912	LAMB1	HP:0011344	Severe global developmental delay	-	OMIM:615191
3912	LAMB1	HP:0100307	Cerebellar hemisphere hypoplasia	4/4	OMIM:615191
3912	LAMB1	HP:0000256	Macrocephaly	-	OMIM:615191
3912	LAMB1	HP:0000238	Hydrocephalus	4/4	OMIM:615191
3912	LAMB1	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:352682
3912	LAMB1	HP:0000365	Hearing impairment	HP:0040283	OMIM:615191
3912	LAMB1	HP:0012447	Abnormal myelination	HP:0040282	ORPHA:352682
3912	LAMB1	HP:0000518	Cataract	HP:0040283	OMIM:615191
3913	LAMB2	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0003774	Stage 5 chronic kidney disease	4/4	OMIM:609049
3913	LAMB2	HP:0003774	Stage 5 chronic kidney disease	3/3	OMIM:614199
3913	LAMB2	HP:0001104	Macular hypoplasia	1/9	OMIM:614199
3913	LAMB2	HP:0001104	Macular hypoplasia	HP:0040282	ORPHA:2670
3913	LAMB2	HP:0001104	Macular hypoplasia	1/4	OMIM:609049
3913	LAMB2	HP:0002421	Poor head control	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:98915
3913	LAMB2	HP:0001270	Motor delay	3/4	OMIM:609049
3913	LAMB2	HP:0001270	Motor delay	HP:0040282	ORPHA:2670
3913	LAMB2	HP:0001284	Areflexia	1/4	OMIM:609049
3913	LAMB2	HP:0001284	Areflexia	HP:0040283	ORPHA:98915
3913	LAMB2	HP:0001252	Hypotonia	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0001252	Hypotonia	5/19	OMIM:609049
3913	LAMB2	HP:0001252	Hypotonia	HP:0040282	ORPHA:2670
3913	LAMB2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:98915
3913	LAMB2	HP:0001265	Hyporeflexia	1/4	OMIM:609049
3913	LAMB2	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:2670
3913	LAMB2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0001263	Global developmental delay	4/19	OMIM:609049
3913	LAMB2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2670
3913	LAMB2	HP:0008677	Congenital nephrotic syndrome	HP:0040281	ORPHA:2670
3913	LAMB2	HP:0002515	Waddling gait	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0003803	Type 1 muscle fiber predominance	HP:0040283	ORPHA:98915
3913	LAMB2	HP:0003819	Death in childhood	2/4	OMIM:609049
3913	LAMB2	HP:0000083	Renal insufficiency	6/6	OMIM:614199
3913	LAMB2	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:2670
3913	LAMB2	HP:0000099	Glomerulonephritis	4/4	OMIM:614199
3913	LAMB2	HP:0000097	Focal segmental glomerulosclerosis	2/3	OMIM:614199
3913	LAMB2	HP:0000093	Proteinuria	4/4	OMIM:614199
3913	LAMB2	HP:0000093	Proteinuria	4/4	OMIM:609049
3913	LAMB2	HP:0025358	Uveal ectropion	1/4	OMIM:609049
3913	LAMB2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:2670
3913	LAMB2	HP:0001324	Muscle weakness	HP:0040283	ORPHA:98915
3913	LAMB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:609049
3913	LAMB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614199
3913	LAMB2	HP:0002650	Scoliosis	HP:0040283	ORPHA:98915
3913	LAMB2	HP:0002643	Neonatal respiratory distress	HP:0040283	ORPHA:98915
3913	LAMB2	HP:0025492	Microcoria	HP:0040282	ORPHA:2670
3913	LAMB2	HP:0025492	Microcoria	6/19	OMIM:609049
3913	LAMB2	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0007676	Hypoplasia of the iris	HP:0040283	ORPHA:2670
3913	LAMB2	HP:0007676	Hypoplasia of the iris	-	OMIM:609049
3913	LAMB2	HP:0007663	Reduced visual acuity	8/8	OMIM:614199
3913	LAMB2	HP:0031266	Podocyte foot process effacement	1/5	OMIM:614199
3913	LAMB2	HP:0006251	Limited wrist extension	HP:0040284	ORPHA:98915
3913	LAMB2	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:98915
3913	LAMB2	HP:0002791	Hypoventilation	HP:0040283	ORPHA:98915
3913	LAMB2	HP:0000100	Nephrotic syndrome	4/4	OMIM:609049
3913	LAMB2	HP:0000100	Nephrotic syndrome	2/2	OMIM:614199
3913	LAMB2	HP:0032582	Renal interstitial foam cells	1/5	OMIM:614199
3913	LAMB2	HP:0002033	Poor suck	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0003327	Axial muscle weakness	HP:0040283	ORPHA:98915
3913	LAMB2	HP:0002015	Dysphagia	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:98915
3913	LAMB2	HP:0002098	Respiratory distress	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0002092	Pulmonary arterial hypertension	HP:0040284	ORPHA:98915
3913	LAMB2	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0003388	Easy fatigability	HP:0040283	ORPHA:98915
3913	LAMB2	HP:0003443	Decreased size of nerve terminals	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0003436	Prolonged miniature endplate currents	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040281	ORPHA:98915
3913	LAMB2	HP:0010535	Sleep apnea	HP:0040283	ORPHA:98915
3913	LAMB2	HP:0004719	Hyperechogenic kidneys	4/4	OMIM:609049
3913	LAMB2	HP:0003593	Infantile onset	4/13	OMIM:614199
3913	LAMB2	HP:0003577	Congenital onset	4/13	OMIM:614199
3913	LAMB2	HP:0003577	Congenital onset	4/4	OMIM:609049
3913	LAMB2	HP:0003554	Type 2 muscle fiber atrophy	HP:0040284	ORPHA:98915
3913	LAMB2	HP:0011968	Feeding difficulties	2/4	OMIM:609049
3913	LAMB2	HP:0010628	Facial palsy	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0003691	Scapular winging	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0002359	Frequent falls	HP:0040284	ORPHA:98915
3913	LAMB2	HP:0033454	Tube feeding	1/4	OMIM:609049
3913	LAMB2	HP:0003623	Neonatal onset	-	OMIM:609049
3913	LAMB2	HP:0003621	Juvenile onset	2/9	OMIM:614199
3913	LAMB2	HP:0000639	Nystagmus	3/13	OMIM:614199
3913	LAMB2	HP:0000639	Nystagmus	HP:0040282	ORPHA:2670
3913	LAMB2	HP:0001967	Diffuse mesangial sclerosis	1/1	OMIM:614199
3913	LAMB2	HP:0001967	Diffuse mesangial sclerosis	HP:0040281	ORPHA:2670
3913	LAMB2	HP:0001967	Diffuse mesangial sclerosis	-	OMIM:609049
3913	LAMB2	HP:0000618	Blindness	1/15	OMIM:609049
3913	LAMB2	HP:0000609	Optic nerve hypoplasia	1/9	OMIM:614199
3913	LAMB2	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:98915
3913	LAMB2	HP:0003075	Hypoproteinemia	-	OMIM:609049
3913	LAMB2	HP:0011463	Childhood onset	3/9	OMIM:614199
3913	LAMB2	HP:0000790	Hematuria	1/1	OMIM:614199
3913	LAMB2	HP:0003198	Myopathy	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0012841	Retinal vascular tortuosity	1/4	OMIM:609049
3913	LAMB2	HP:0011502	Posterior lenticonus	-	OMIM:609049
3913	LAMB2	HP:0000822	Hypertension	2/2	OMIM:614199
3913	LAMB2	HP:0000822	Hypertension	1/4	OMIM:609049
3913	LAMB2	HP:0003202	Skeletal muscle atrophy	1/4	OMIM:609049
3913	LAMB2	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:98915
3913	LAMB2	HP:0000969	Edema	-	OMIM:609049
3913	LAMB2	HP:0034375	Spherophakia	HP:0040283	ORPHA:2670
3913	LAMB2	HP:0007774	Hypoplasia of the ciliary body	-	OMIM:609049
3913	LAMB2	HP:0002815	Abnormality of the knee	HP:0040283	ORPHA:98915
3913	LAMB2	HP:0000253	Progressive microcephaly	2/4	OMIM:609049
3913	LAMB2	HP:0000252	Microcephaly	3/4	OMIM:609049
3913	LAMB2	HP:0000218	High palate	HP:0040283	ORPHA:98915
3913	LAMB2	HP:0002875	Exertional dyspnea	HP:0040284	ORPHA:98915
3913	LAMB2	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:2670
3913	LAMB2	HP:0001562	Oligohydramnios	2/4	OMIM:609049
3913	LAMB2	HP:0000207	Triangular mouth	HP:0040284	ORPHA:98915
3913	LAMB2	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0030203	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0007894	Hypopigmentation of the fundus	1/4	OMIM:609049
3913	LAMB2	HP:0005216	Impaired mastication	HP:0040283	ORPHA:98915
3913	LAMB2	HP:0001612	Weak cry	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0011003	High myopia	1/4	OMIM:609049
3913	LAMB2	HP:0001667	Right ventricular hypertrophy	HP:0040284	ORPHA:98915
3913	LAMB2	HP:0000303	Mandibular prognathia	HP:0040284	ORPHA:98915
3913	LAMB2	HP:0007941	Limited extraocular movements	HP:0040283	ORPHA:98915
3913	LAMB2	HP:0032988	Persistent head lag	1/4	OMIM:609049
3913	LAMB2	HP:0007968	Remnants of the hyaloid vascular system	HP:0040283	ORPHA:2670
3913	LAMB2	HP:0007968	Remnants of the hyaloid vascular system	3/4	OMIM:609049
3913	LAMB2	HP:0000486	Strabismus	1/4	OMIM:614199
3913	LAMB2	HP:0030211	Slow pupillary light response	HP:0040283	ORPHA:98915
3913	LAMB2	HP:0030237	Hand muscle weakness	HP:0040284	ORPHA:98915
3913	LAMB2	HP:0000467	Neck muscle weakness	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0001762	Talipes equinovarus	HP:0040284	ORPHA:98915
3913	LAMB2	HP:0000518	Cataract	3/12	OMIM:614199
3913	LAMB2	HP:0000518	Cataract	3/4	OMIM:609049
3913	LAMB2	HP:0000518	Cataract	HP:0040282	ORPHA:2670
3913	LAMB2	HP:0000510	Rod-cone dystrophy	1/1	OMIM:614199
3913	LAMB2	HP:0000508	Ptosis	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0000505	Visual impairment	HP:0040283	ORPHA:2670
3913	LAMB2	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:98915
3913	LAMB2	HP:0000580	Pigmentary retinopathy	3/9	OMIM:614199
3913	LAMB2	HP:0012574	Mesangial hypercellularity	4/5	OMIM:614199
3913	LAMB2	HP:0000558	Rieger anomaly	1/15	OMIM:609049
3913	LAMB2	HP:0000573	Retinal hemorrhage	1/4	OMIM:609049
3913	LAMB2	HP:0000568	Microphthalmia	1/9	OMIM:614199
3913	LAMB2	HP:0000568	Microphthalmia	1/4	OMIM:609049
3913	LAMB2	HP:0000541	Retinal detachment	1/4	OMIM:609049
3913	LAMB2	HP:0000541	Retinal detachment	5/9	OMIM:614199
3913	LAMB2	HP:0000545	Myopia	1/4	OMIM:614199
3914	LAMB3	HP:0001159	Syndactyly	0/1	OMIM:226700
3914	LAMB3	HP:0100806	Sepsis	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0001250	Seizure	HP:0040284	ORPHA:79404
3914	LAMB3	HP:0007383	Congenital localized absence of skin	-	OMIM:226700
3914	LAMB3	HP:0008682	Renal tubular epithelial necrosis	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0006000	Ureteral obstruction	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0001211	Abnormal fingertip morphology	HP:0040282	ORPHA:79404
3914	LAMB3	HP:0006089	Palmar hyperhidrosis	-	OMIM:226650
3914	LAMB3	HP:0000081	Duplicated collecting system	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0000072	Hydroureter	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0000070	Ureterocele	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0000014	Abnormality of the bladder	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0000016	Urinary retention	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0007556	Plantar hyperkeratosis	-	OMIM:226650
3914	LAMB3	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:226650
3914	LAMB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:226700
3914	LAMB3	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:104530
3914	LAMB3	HP:0006311	Generalized microdontia	-	OMIM:104530
3914	LAMB3	HP:0006297	Enamel hypoplasia	HP:0040281	ORPHA:79404
3914	LAMB3	HP:0006297	Enamel hypoplasia	2/2	OMIM:104530
3914	LAMB3	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:79402
3914	LAMB3	HP:0006297	Enamel hypoplasia	3/3	OMIM:226650
3914	LAMB3	HP:0006297	Enamel hypoplasia	-	OMIM:226700
3914	LAMB3	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0000107	Renal cyst	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0002021	Pyloric stenosis	-	OMIM:226700
3914	LAMB3	HP:0002019	Constipation	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0002013	Vomiting	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0003341	Lamina lucida cleavage	1/1	OMIM:226700
3914	LAMB3	HP:0002087	Abnormality of the upper respiratory tract	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0002098	Respiratory distress	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0002094	Dyspnea	HP:0040282	ORPHA:79404
3914	LAMB3	HP:0002090	Pneumonia	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0002043	Esophageal stricture	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0100518	Dysuria	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0010476	Aplasia/Hypoplasia of the bladder	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0002107	Pneumothorax	HP:0040284	ORPHA:79404
3914	LAMB3	HP:0002164	Nail dysplasia	-	OMIM:226700
3914	LAMB3	HP:0100490	Camptodactyly of finger	-	OMIM:226650
3914	LAMB3	HP:0011830	Abnormal oral mucosa morphology	HP:0040281	ORPHA:79404
3914	LAMB3	HP:0003577	Congenital onset	3/3	OMIM:226650
3914	LAMB3	HP:0003577	Congenital onset	1/1	OMIM:226700
3914	LAMB3	HP:0002232	Patchy alopecia	3/3	OMIM:226650
3914	LAMB3	HP:0002231	Sparse body hair	HP:0040281	ORPHA:79402
3914	LAMB3	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:79402
3914	LAMB3	HP:0008404	Nail dystrophy	13/13	OMIM:226650
3914	LAMB3	HP:0008404	Nail dystrophy	-	OMIM:226700
3914	LAMB3	HP:0009722	Dental enamel pits	1/2	OMIM:104530
3914	LAMB3	HP:0200097	Oral mucosal blisters	-	OMIM:226650
3914	LAMB3	HP:0200097	Oral mucosal blisters	HP:0040281	ORPHA:79402
3914	LAMB3	HP:0001056	Milia	HP:0040281	ORPHA:79402
3914	LAMB3	HP:0001056	Milia	-	OMIM:226700
3914	LAMB3	HP:0001057	Aplasia cutis congenita	HP:0040281	ORPHA:79402
3914	LAMB3	HP:0001057	Aplasia cutis congenita	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0001030	Fragile skin	HP:0040281	ORPHA:79404
3914	LAMB3	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:79402
3914	LAMB3	HP:0200035	Skin plaque	HP:0040281	ORPHA:79404
3914	LAMB3	HP:0001075	Atrophic scars	HP:0040281	ORPHA:79402
3914	LAMB3	HP:0001075	Atrophic scars	-	OMIM:226700
3914	LAMB3	HP:0200041	Skin erosion	HP:0040281	ORPHA:79404
3914	LAMB3	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	HP:0040281	ORPHA:79404
3914	LAMB3	HP:0001944	Dehydration	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0001955	Unexplained fevers	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0001903	Anemia	HP:0040282	ORPHA:79404
3914	LAMB3	HP:0001903	Anemia	HP:0040282	ORPHA:79402
3914	LAMB3	HP:0000679	Taurodontia	1/2	OMIM:104530
3914	LAMB3	HP:0000670	Carious teeth	3/3	OMIM:226650
3914	LAMB3	HP:0000670	Carious teeth	-	OMIM:226700
3914	LAMB3	HP:0000668	Hypodontia	-	OMIM:226650
3914	LAMB3	HP:0004386	Gastrointestinal inflammation	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0004395	Malnutrition	HP:0040282	ORPHA:79404
3914	LAMB3	HP:0000705	Amelogenesis imperfecta	2/2	OMIM:104530
3914	LAMB3	HP:0003111	Abnormal blood ion concentration	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0004552	Scarring alopecia of scalp	HP:0040281	ORPHA:79402
3914	LAMB3	HP:0000999	Pyoderma	HP:0040284	ORPHA:79404
3914	LAMB3	HP:0010307	Stridor	HP:0040282	ORPHA:79404
3914	LAMB3	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:79402
3914	LAMB3	HP:0000951	Abnormality of the skin	0/2	OMIM:104530
3914	LAMB3	HP:0000969	Edema	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0000939	Osteoporosis	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79404
3914	LAMB3	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79402
3914	LAMB3	HP:0008066	Abnormal blistering of the skin	3/3	OMIM:226650
3914	LAMB3	HP:0008066	Abnormal blistering of the skin	1/1	OMIM:226700
3914	LAMB3	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:79404
3914	LAMB3	HP:0001596	Alopecia	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0012227	Urethral stricture	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:79404
3914	LAMB3	HP:0002878	Respiratory failure	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0001522	Death in infancy	-	OMIM:226700
3914	LAMB3	HP:0001508	Failure to thrive	HP:0040281	ORPHA:79404
3914	LAMB3	HP:0001508	Failure to thrive	-	OMIM:226700
3914	LAMB3	HP:0001510	Growth delay	HP:0040281	ORPHA:79404
3914	LAMB3	HP:0001510	Growth delay	HP:0040283	ORPHA:79402
3914	LAMB3	HP:0001609	Hoarse voice	HP:0040282	ORPHA:79404
3914	LAMB3	HP:0001602	Laryngeal stenosis	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0001615	Hoarse cry	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0031446	Erosion of oral mucosa	HP:0040282	ORPHA:79404
3914	LAMB3	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0001662	Bradycardia	HP:0040284	ORPHA:79404
3914	LAMB3	HP:0004057	Mitten deformity	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0000481	Abnormal cornea morphology	HP:0040283	ORPHA:79404
3914	LAMB3	HP:0001798	Anonychia	HP:0040282	ORPHA:79404
3914	LAMB3	HP:0001798	Anonychia	HP:0040282	ORPHA:79402
3914	LAMB3	HP:0001808	Fragile nails	-	OMIM:226650
3914	LAMB3	HP:0001818	Paronychia	HP:0040282	ORPHA:79404
3918	LAMC2	HP:0001159	Syndactyly	0/1	OMIM:226700
3918	LAMC2	HP:0100806	Sepsis	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0001250	Seizure	HP:0040284	ORPHA:79404
3918	LAMC2	HP:0007383	Congenital localized absence of skin	-	OMIM:226700
3918	LAMC2	HP:0008682	Renal tubular epithelial necrosis	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0006000	Ureteral obstruction	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0001211	Abnormal fingertip morphology	HP:0040282	ORPHA:79404
3918	LAMC2	HP:0000081	Duplicated collecting system	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0000072	Hydroureter	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0000070	Ureterocele	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0000014	Abnormality of the bladder	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0000016	Urinary retention	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:226700
3918	LAMC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619785
3918	LAMC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619786
3918	LAMC2	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0006297	Enamel hypoplasia	HP:0040281	ORPHA:79404
3918	LAMC2	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:79402
3918	LAMC2	HP:0006297	Enamel hypoplasia	-	OMIM:226700
3918	LAMC2	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0000107	Renal cyst	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0002021	Pyloric stenosis	-	OMIM:226700
3918	LAMC2	HP:0002019	Constipation	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0002013	Vomiting	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0003341	Lamina lucida cleavage	1/1	OMIM:226700
3918	LAMC2	HP:0003341	Lamina lucida cleavage	1/1	OMIM:619785
3918	LAMC2	HP:0003341	Lamina lucida cleavage	1/1	OMIM:619786
3918	LAMC2	HP:0002087	Abnormality of the upper respiratory tract	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0002098	Respiratory distress	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0002094	Dyspnea	HP:0040282	ORPHA:79404
3918	LAMC2	HP:0002090	Pneumonia	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0002043	Esophageal stricture	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0100518	Dysuria	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0010476	Aplasia/Hypoplasia of the bladder	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0002107	Pneumothorax	HP:0040284	ORPHA:79404
3918	LAMC2	HP:0002164	Nail dysplasia	-	OMIM:226700
3918	LAMC2	HP:0011830	Abnormal oral mucosa morphology	HP:0040281	ORPHA:79404
3918	LAMC2	HP:0003577	Congenital onset	1/1	OMIM:619785
3918	LAMC2	HP:0003577	Congenital onset	2/2	OMIM:619786
3918	LAMC2	HP:0003577	Congenital onset	1/1	OMIM:226700
3918	LAMC2	HP:0002231	Sparse body hair	HP:0040281	ORPHA:79402
3918	LAMC2	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:79402
3918	LAMC2	HP:0008404	Nail dystrophy	-	OMIM:226700
3918	LAMC2	HP:0200097	Oral mucosal blisters	HP:0040281	ORPHA:79402
3918	LAMC2	HP:0200097	Oral mucosal blisters	0/1	OMIM:619785
3918	LAMC2	HP:0200097	Oral mucosal blisters	1/1	OMIM:619786
3918	LAMC2	HP:0001056	Milia	HP:0040281	ORPHA:79402
3918	LAMC2	HP:0001056	Milia	-	OMIM:226700
3918	LAMC2	HP:0001057	Aplasia cutis congenita	HP:0040281	ORPHA:79402
3918	LAMC2	HP:0001057	Aplasia cutis congenita	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0001030	Fragile skin	HP:0040281	ORPHA:79404
3918	LAMC2	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:79402
3918	LAMC2	HP:0200035	Skin plaque	HP:0040281	ORPHA:79404
3918	LAMC2	HP:0100613	Death in early adulthood	1/1	OMIM:619786
3918	LAMC2	HP:0001075	Atrophic scars	HP:0040281	ORPHA:79402
3918	LAMC2	HP:0001075	Atrophic scars	-	OMIM:226700
3918	LAMC2	HP:0200041	Skin erosion	HP:0040281	ORPHA:79404
3918	LAMC2	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	HP:0040281	ORPHA:79404
3918	LAMC2	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	2/2	OMIM:619785
3918	LAMC2	HP:0001944	Dehydration	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0001955	Unexplained fevers	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0001903	Anemia	HP:0040282	ORPHA:79404
3918	LAMC2	HP:0001903	Anemia	HP:0040282	ORPHA:79402
3918	LAMC2	HP:0000670	Carious teeth	-	OMIM:226700
3918	LAMC2	HP:0004386	Gastrointestinal inflammation	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0004395	Malnutrition	HP:0040282	ORPHA:79404
3918	LAMC2	HP:0003111	Abnormal blood ion concentration	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0004552	Scarring alopecia of scalp	HP:0040281	ORPHA:79402
3918	LAMC2	HP:0000999	Pyoderma	HP:0040284	ORPHA:79404
3918	LAMC2	HP:0010307	Stridor	HP:0040282	ORPHA:79404
3918	LAMC2	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:79402
3918	LAMC2	HP:0000969	Edema	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0000939	Osteoporosis	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79404
3918	LAMC2	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79402
3918	LAMC2	HP:0008066	Abnormal blistering of the skin	1/1	OMIM:226700
3918	LAMC2	HP:0008066	Abnormal blistering of the skin	2/2	OMIM:619785
3918	LAMC2	HP:0008066	Abnormal blistering of the skin	3/3	OMIM:619786
3918	LAMC2	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:79404
3918	LAMC2	HP:0001597	Abnormal nail morphology	1/1	OMIM:619786
3918	LAMC2	HP:0001596	Alopecia	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0012227	Urethral stricture	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:79404
3918	LAMC2	HP:0002878	Respiratory failure	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0001522	Death in infancy	-	OMIM:226700
3918	LAMC2	HP:0001522	Death in infancy	2/2	OMIM:619786
3918	LAMC2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:79404
3918	LAMC2	HP:0001508	Failure to thrive	-	OMIM:226700
3918	LAMC2	HP:0001510	Growth delay	HP:0040281	ORPHA:79404
3918	LAMC2	HP:0001510	Growth delay	HP:0040283	ORPHA:79402
3918	LAMC2	HP:0001609	Hoarse voice	HP:0040282	ORPHA:79404
3918	LAMC2	HP:0001602	Laryngeal stenosis	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0001615	Hoarse cry	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0031446	Erosion of oral mucosa	HP:0040282	ORPHA:79404
3918	LAMC2	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0001662	Bradycardia	HP:0040284	ORPHA:79404
3918	LAMC2	HP:0004057	Mitten deformity	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0000481	Abnormal cornea morphology	HP:0040283	ORPHA:79404
3918	LAMC2	HP:0001798	Anonychia	HP:0040282	ORPHA:79404
3918	LAMC2	HP:0001798	Anonychia	HP:0040282	ORPHA:79402
3918	LAMC2	HP:0001818	Paronychia	HP:0040282	ORPHA:79404
3920	LAMP2	HP:0002460	Distal muscle weakness	1/2	OMIM:300257
3920	LAMP2	HP:0007210	Lower limb amyotrophy	1/2	OMIM:300257
3920	LAMP2	HP:0003701	Proximal muscle weakness	-	OMIM:300257
3920	LAMP2	HP:0003700	Generalized amyotrophy	-	OMIM:300257
3920	LAMP2	HP:0003710	Exercise-induced muscle cramps	-	OMIM:300257
3920	LAMP2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:34587
3920	LAMP2	HP:0001279	Syncope	1/2	OMIM:300257
3920	LAMP2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:34587
3920	LAMP2	HP:0001249	Intellectual disability	8/10	OMIM:300257
3920	LAMP2	HP:0001263	Global developmental delay	-	OMIM:300257
3920	LAMP2	HP:0001324	Muscle weakness	10/10	OMIM:300257
3920	LAMP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
3920	LAMP2	HP:0001423	X-linked dominant inheritance	-	OMIM:300257
3920	LAMP2	HP:0100543	Cognitive impairment	0/2	OMIM:300257
3920	LAMP2	HP:0011706	Second degree atrioventricular block	1/2	OMIM:300257
3920	LAMP2	HP:0003458	EMG: myopathic abnormalities	-	OMIM:300257
3920	LAMP2	HP:0004756	Ventricular tachycardia	1/2	OMIM:300257
3920	LAMP2	HP:0010547	Muscle flaccidity	HP:0040281	ORPHA:34587
3920	LAMP2	HP:0003546	Exercise intolerance	-	OMIM:300257
3920	LAMP2	HP:0003690	Limb muscle weakness	1/2	OMIM:300257
3920	LAMP2	HP:0002375	Hypokinesia	-	OMIM:300257
3920	LAMP2	HP:0025075	Increased QRS voltage	1/2	OMIM:300257
3920	LAMP2	HP:0003621	Juvenile onset	1/2	OMIM:300257
3920	LAMP2	HP:0012666	Severely reduced left ventricular ejection fraction	2/2	OMIM:300257
3920	LAMP2	HP:0011463	Childhood onset	1/2	OMIM:300257
3920	LAMP2	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:300257
3920	LAMP2	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
3920	LAMP2	HP:0006543	Cardiorespiratory arrest	HP:0040281	ORPHA:34587
3920	LAMP2	HP:0001692	Atrial arrhythmia	1/2	OMIM:300257
3920	LAMP2	HP:0001664	Torsade de pointes	1/46	OMIM:115000
3920	LAMP2	HP:0001685	Myocardial fibrosis	-	OMIM:300257
3920	LAMP2	HP:0001678	Atrioventricular block	1/2	OMIM:300257
3920	LAMP2	HP:0001645	Sudden cardiac death	-	OMIM:115000
3920	LAMP2	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:34587
3920	LAMP2	HP:0001644	Dilated cardiomyopathy	10/10	OMIM:300257
3920	LAMP2	HP:0001663	Ventricular fibrillation	-	OMIM:115000
3920	LAMP2	HP:0001640	Cardiomegaly	-	OMIM:300257
3920	LAMP2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:34587
3920	LAMP2	HP:0001639	Hypertrophic cardiomyopathy	2/2	OMIM:300257
3920	LAMP2	HP:0001635	Congestive heart failure	2/2	OMIM:300257
3920	LAMP2	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
3920	LAMP2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
3920	LAMP2	HP:0001700	Myocardial necrosis	-	OMIM:300257
3920	LAMP2	HP:0001716	Wolff-Parkinson-White syndrome	1/2	OMIM:300257
3920	LAMP2	HP:0025717	Skeletal muscle autophagosome accumulation	10/10	OMIM:300257
3920	LAMP2	HP:0001761	Pes cavus	1/2	OMIM:300257
3920	LAMP2	HP:0000505	Visual impairment	1/2	OMIM:300257
3921	RPSA	HP:0000006	Autosomal dominant inheritance	-	OMIM:271400
3921	RPSA	HP:0032550	Howell-Jolly bodies	-	OMIM:271400
3921	RPSA	HP:0003593	Infantile onset	-	OMIM:271400
3921	RPSA	HP:0001746	Asplenia	-	OMIM:271400
3921	RPSA	HP:0001894	Thrombocytosis	HP:0040283	OMIM:271400
3930	LBR	HP:0001169	Broad palm	2/3	OMIM:215140
3930	LBR	HP:0001156	Brachydactyly	2/3	OMIM:215140
3930	LBR	HP:0001156	Brachydactyly	1/1	OMIM:618019
3930	LBR	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1426
3930	LBR	HP:0001162	Postaxial hand polydactyly	4/5	OMIM:215140
3930	LBR	HP:0010943	Echogenic fetal bowel	2/3	OMIM:215140
3930	LBR	HP:0010880	Increased nuchal translucency	1/2	OMIM:215140
3930	LBR	HP:0003761	Calcinosis	-	OMIM:613471
3930	LBR	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3930	LBR	HP:0001293	Cranial nerve compression	-	OMIM:131300
3930	LBR	HP:0001250	Seizure	2/11	OMIM:169400
3930	LBR	HP:0001252	Hypotonia	1/2	OMIM:618019
3930	LBR	HP:0001252	Hypotonia	2/7	OMIM:615777
3930	LBR	HP:0001249	Intellectual disability	4/12	OMIM:169400
3930	LBR	HP:0001249	Intellectual disability	5/7	OMIM:615777
3930	LBR	HP:0001263	Global developmental delay	-	OMIM:169400
3930	LBR	HP:0001263	Global developmental delay	-	OMIM:615777
3930	LBR	HP:0002570	Steatorrhea	-	OMIM:613471
3930	LBR	HP:0008754	Laryngeal calcification	2/2	OMIM:215140
3930	LBR	HP:0007413	Nevus flammeus of the forehead	1/2	OMIM:618019
3930	LBR	HP:0008747	Cartilaginous ossification of larynx	1/1	OMIM:215140
3930	LBR	HP:0007400	Irregular hyperpigmentation	HP:0040282	ORPHA:779
3930	LBR	HP:0100864	Short femoral neck	1/1	OMIM:618019
3930	LBR	HP:0100869	Palmar telangiectasia	1/1	OMIM:613471
3930	LBR	HP:0003865	Bowed humerus	2/2	OMIM:618019
3930	LBR	HP:0002515	Waddling gait	54/102	OMIM:131300
3930	LBR	HP:0003826	Stillbirth	2/2	OMIM:215140
3930	LBR	HP:0003811	Neonatal death	-	OMIM:215140
3930	LBR	HP:0001396	Cholestasis	1/1	OMIM:613471
3930	LBR	HP:0001394	Cirrhosis	HP:0040283	ORPHA:779
3930	LBR	HP:0001377	Limited elbow extension	1/1	OMIM:618019
3930	LBR	HP:0001373	Joint dislocation	1/2	OMIM:618019
3930	LBR	HP:0001369	Arthritis	HP:0040282	ORPHA:779
3930	LBR	HP:0001382	Joint hypermobility	1/2	OMIM:618019
3930	LBR	HP:0001382	Joint hypermobility	-	OMIM:615777
3930	LBR	HP:0002677	Small foramen magnum	1/2	OMIM:618019
3930	LBR	HP:0002694	Sclerosis of skull base	3/4	OMIM:215140
3930	LBR	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3930	LBR	HP:0001362	Calvarial skull defect	HP:0040282	ORPHA:1426
3930	LBR	HP:0002691	Platybasia	1/2	OMIM:618019
3930	LBR	HP:0008890	Severe short-limb dwarfism	1/1	OMIM:215140
3930	LBR	HP:0008890	Severe short-limb dwarfism	HP:0040281	ORPHA:1426
3930	LBR	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3930	LBR	HP:0008873	Disproportionate short-limb short stature	3/4	OMIM:215140
3930	LBR	HP:0008873	Disproportionate short-limb short stature	2/2	OMIM:618019
3930	LBR	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3930	LBR	HP:0001324	Muscle weakness	40/96	OMIM:131300
3930	LBR	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3930	LBR	HP:0000007	Autosomal recessive inheritance	-	OMIM:215140
3930	LBR	HP:0000007	Autosomal recessive inheritance	-	OMIM:618019
3930	LBR	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3930	LBR	HP:0000006	Autosomal dominant inheritance	-	OMIM:613471
3930	LBR	HP:0000006	Autosomal dominant inheritance	-	OMIM:169400
3930	LBR	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3930	LBR	HP:0002650	Scoliosis	12/14	OMIM:131300
3930	LBR	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3930	LBR	HP:0002613	Biliary cirrhosis	-	OMIM:613471
3930	LBR	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3930	LBR	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3930	LBR	HP:0008905	Rhizomelia	3/3	OMIM:618019
3930	LBR	HP:0008905	Rhizomelia	7/7	OMIM:215140
3930	LBR	HP:0008905	Rhizomelia	HP:0040281	ORPHA:1426
3930	LBR	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3930	LBR	HP:0000164	Abnormality of the dentition	1/1	OMIM:169400
3930	LBR	HP:0000175	Cleft palate	2/7	OMIM:615777
3930	LBR	HP:0005019	Diaphyseal undertubulation	-	OMIM:215140
3930	LBR	HP:0006267	Large placenta	1/3	OMIM:215140
3930	LBR	HP:0002787	Tracheal calcification	1/1	OMIM:215140
3930	LBR	HP:0025406	Asthenia	1/1	OMIM:613471
3930	LBR	HP:0002757	Recurrent fractures	1/1	OMIM:215140
3930	LBR	HP:0001433	Hepatosplenomegaly	1/1	OMIM:215140
3930	LBR	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:779
3930	LBR	HP:0003326	Myalgia	HP:0040281	ORPHA:779
3930	LBR	HP:0002015	Dysphagia	HP:0040282	ORPHA:779
3930	LBR	HP:0002007	Frontal bossing	2/2	OMIM:169400
3930	LBR	HP:0002007	Frontal bossing	1/2	OMIM:618019
3930	LBR	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:1426
3930	LBR	HP:0003307	Hyperlordosis	2/2	OMIM:618019
3930	LBR	HP:0003300	Ovoid vertebral bodies	1/1	OMIM:618019
3930	LBR	HP:0011800	Midface retrusion	4/5	OMIM:215140
3930	LBR	HP:0011800	Midface retrusion	1/2	OMIM:618019
3930	LBR	HP:0011800	Midface retrusion	HP:0040282	ORPHA:1426
3930	LBR	HP:0002089	Pulmonary hypoplasia	1/3	OMIM:215140
3930	LBR	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:779
3930	LBR	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:169400
3930	LBR	HP:0003388	Easy fatigability	36/76	OMIM:131300
3930	LBR	HP:0010442	Polydactyly	-	OMIM:169400
3930	LBR	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3930	LBR	HP:0100569	Abnormally ossified vertebrae	HP:0040281	ORPHA:1426
3930	LBR	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:779
3930	LBR	HP:0100579	Mucosal telangiectasiae	HP:0040282	ORPHA:779
3930	LBR	HP:0009487	Ulnar deviation of the hand	-	OMIM:215140
3930	LBR	HP:0002101	Abnormal lung lobation	1/1	OMIM:215140
3930	LBR	HP:0003440	Horizontal sacrum	-	OMIM:215140
3930	LBR	HP:0003493	Antinuclear antibody positivity	1/1	OMIM:613471
3930	LBR	HP:0011849	Abnormal bone ossification	HP:0040281	ORPHA:1426
3930	LBR	HP:0011838	Sclerodactyly	HP:0040282	ORPHA:779
3930	LBR	HP:0011838	Sclerodactyly	-	OMIM:613471
3930	LBR	HP:0003577	Congenital onset	3/3	OMIM:618019
3930	LBR	HP:0002240	Hepatomegaly	4/5	OMIM:215140
3930	LBR	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:779
3930	LBR	HP:0002240	Hepatomegaly	-	OMIM:613471
3930	LBR	HP:0002239	Gastrointestinal hemorrhage	-	OMIM:613471
3930	LBR	HP:0003565	Elevated erythrocyte sedimentation rate	1/1	OMIM:613471
3930	LBR	HP:0100725	Lichenification	HP:0040283	ORPHA:779
3930	LBR	HP:0010659	Patchy variation in bone mineral density	-	OMIM:215140
3930	LBR	HP:0011986	Ectopic ossification	1/3	OMIM:215140
3930	LBR	HP:0010655	Epiphyseal stippling	1/2	OMIM:215140
3930	LBR	HP:0003510	Severe short stature	7/7	OMIM:615777
3930	LBR	HP:0003502	Mild short stature	2/11	OMIM:169400
3930	LBR	HP:0003502	Mild short stature	1/1	OMIM:618019
3930	LBR	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:779
3930	LBR	HP:0002395	Lower limb hyperreflexia	1/1	OMIM:169400
3930	LBR	HP:0001004	Lymphedema	HP:0040281	ORPHA:1426
3930	LBR	HP:0002315	Headache	-	OMIM:131300
3930	LBR	HP:0004976	Knee dislocation	6/7	OMIM:615777
3930	LBR	HP:0009826	Limb undergrowth	1/2	OMIM:618019
3930	LBR	HP:0001097	Keratoconjunctivitis sicca	HP:0040282	ORPHA:779
3930	LBR	HP:0100602	Preeclampsia	HP:0040282	ORPHA:1426
3930	LBR	HP:0100603	Toxemia of pregnancy	1/2	OMIM:215140
3930	LBR	HP:0009824	Upper limb undergrowth	1/11	OMIM:169400
3930	LBR	HP:0009803	Short phalanx of finger	-	OMIM:215140
3930	LBR	HP:0009803	Short phalanx of finger	-	OMIM:615777
3930	LBR	HP:0200042	Skin ulcer	HP:0040282	ORPHA:779
3930	LBR	HP:0008479	Hypoplastic vertebral bodies	1/2	OMIM:215140
3930	LBR	HP:0010766	Ectopic calcification	1/3	OMIM:215140
3930	LBR	HP:0009763	Limb pain	63/92	OMIM:131300
3930	LBR	HP:0008420	Punctate vertebral calcifications	-	OMIM:215140
3930	LBR	HP:0003621	Juvenile onset	-	OMIM:131300
3930	LBR	HP:0005528	Bone marrow hypocellularity	-	OMIM:215140
3930	LBR	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3930	LBR	HP:0009099	Median cleft palate	1/1	OMIM:169400
3930	LBR	HP:0004295	Abnormal gastric mucosa morphology	HP:0040281	ORPHA:779
3930	LBR	HP:0006895	Lower limb hypertonia	1/1	OMIM:169400
3930	LBR	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3930	LBR	HP:6001056	Out-toeing	-	OMIM:131300
3930	LBR	HP:0000651	Diplopia	-	OMIM:131300
3930	LBR	HP:0001945	Fever	HP:0040282	ORPHA:779
3930	LBR	HP:0001956	Truncal obesity	2/7	OMIM:615777
3930	LBR	HP:0001903	Anemia	HP:0040283	OMIM:131300
3930	LBR	HP:0001902	Giant platelets	1/11	OMIM:169400
3930	LBR	HP:0010049	Short metacarpal	-	OMIM:615777
3930	LBR	HP:0010049	Short metacarpal	1/1	OMIM:215140
3930	LBR	HP:0010047	Short 5th metacarpal	1/11	OMIM:169400
3930	LBR	HP:0010047	Short 5th metacarpal	1/1	OMIM:618019
3930	LBR	HP:0010055	Broad hallux	1/2	OMIM:618019
3930	LBR	HP:0010041	Short 3rd metacarpal	1/11	OMIM:169400
3930	LBR	HP:0010044	Short 4th metacarpal	1/11	OMIM:169400
3930	LBR	HP:0010044	Short 4th metacarpal	1/1	OMIM:618019
3930	LBR	HP:0011354	Generalized abnormality of skin	HP:0040281	ORPHA:779
3930	LBR	HP:0009027	Foot dorsiflexor weakness	1/1	OMIM:169400
3930	LBR	HP:0000678	Dental crowding	-	OMIM:615777
3930	LBR	HP:0041159	Fractured rib	1/3	OMIM:215140
3930	LBR	HP:0000670	Carious teeth	-	OMIM:131300
3930	LBR	HP:0011304	Broad thumb	2/7	OMIM:615777
3930	LBR	HP:0000668	Hypodontia	-	OMIM:615777
3930	LBR	HP:0000664	Synophrys	-	OMIM:615777
3930	LBR	HP:0004331	Decreased skull ossification	3/5	OMIM:215140
3930	LBR	HP:0004331	Decreased skull ossification	HP:0040282	ORPHA:1426
3930	LBR	HP:0005619	Thoracolumbar kyphosis	1/1	OMIM:618019
3930	LBR	HP:0030674	Antenatal onset	1/1	OMIM:215140
3930	LBR	HP:0004396	Poor appetite	-	OMIM:131300
3930	LBR	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3930	LBR	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3930	LBR	HP:0003015	Flared metaphysis	11/12	OMIM:215140
3930	LBR	HP:0003015	Flared metaphysis	3/3	OMIM:618019
3930	LBR	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3930	LBR	HP:0003026	Short long bone	7/7	OMIM:615777
3930	LBR	HP:0003026	Short long bone	1/1	OMIM:618019
3930	LBR	HP:0003026	Short long bone	7/7	OMIM:215140
3930	LBR	HP:0003027	Mesomelia	2/4	OMIM:215140
3930	LBR	HP:0003025	Metaphyseal irregularity	1/1	OMIM:618019
3930	LBR	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3930	LBR	HP:0031936	Delayed ability to walk	1/2	OMIM:618019
3930	LBR	HP:0003021	Metaphyseal cupping	-	OMIM:215140
3930	LBR	HP:0003021	Metaphyseal cupping	1/1	OMIM:618019
3930	LBR	HP:0009106	Abnormal pelvis bone ossification	HP:0040281	ORPHA:1426
3930	LBR	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3930	LBR	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3930	LBR	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3930	LBR	HP:0000750	Delayed speech and language development	-	OMIM:615777
3930	LBR	HP:0012789	Hypoplasia of the calcaneus	1/1	OMIM:215140
3930	LBR	HP:0011461	Fetal onset	7/7	OMIM:615777
3930	LBR	HP:0011461	Fetal onset	2/2	OMIM:215140
3930	LBR	HP:0011447	Hyposegmentation of neutrophil nuclei	-	OMIM:169400
3930	LBR	HP:0011447	Hyposegmentation of neutrophil nuclei	2/2	OMIM:618019
3930	LBR	HP:0000782	Abnormal scapula morphology	-	OMIM:215140
3930	LBR	HP:0000774	Narrow chest	7/8	OMIM:215140
3930	LBR	HP:0000774	Narrow chest	2/7	OMIM:615777
3930	LBR	HP:0000774	Narrow chest	HP:0040282	ORPHA:1426
3930	LBR	HP:0000773	Short ribs	3/3	OMIM:215140
3930	LBR	HP:0005716	Lethal skeletal dysplasia	-	OMIM:215140
3930	LBR	HP:0000926	Platyspondyly	17/17	OMIM:215140
3930	LBR	HP:0000926	Platyspondyly	1/7	OMIM:615777
3930	LBR	HP:0000926	Platyspondyly	2/2	OMIM:618019
3930	LBR	HP:0000926	Platyspondyly	HP:0040281	ORPHA:1426
3930	LBR	HP:0003186	Inverted nipples	1/2	OMIM:618019
3930	LBR	HP:0003180	Flat acetabular roof	-	OMIM:615777
3930	LBR	HP:0003155	Elevated circulating alkaline phosphatase concentration	-	OMIM:613471
3930	LBR	HP:0004482	Relative macrocephaly	-	OMIM:615777
3930	LBR	HP:0004482	Relative macrocephaly	1/2	OMIM:618019
3930	LBR	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3930	LBR	HP:0030721	Tetraphocomelia	1/1	OMIM:215140
3930	LBR	HP:0000878	11 pairs of ribs	2/2	OMIM:215140
3930	LBR	HP:0000890	Long clavicles	1/1	OMIM:215140
3930	LBR	HP:0000888	Horizontal ribs	2/2	OMIM:618019
3930	LBR	HP:0100324	Scleroderma	-	OMIM:613471
3930	LBR	HP:0000823	Delayed puberty	-	OMIM:131300
3930	LBR	HP:0000894	Short clavicles	-	OMIM:615777
3930	LBR	HP:0030873	Anti-centromere antibody positivity	1/1	OMIM:613471
3930	LBR	HP:0030880	Raynaud phenomenon	1/1	OMIM:613471
3930	LBR	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3930	LBR	HP:0005855	Multiple prenatal fractures	1/2	OMIM:215140
3930	LBR	HP:0004510	Pancreatic islet-cell hyperplasia	-	OMIM:215140
3930	LBR	HP:0004599	Absent or minimally ossified vertebral bodies	-	OMIM:215140
3930	LBR	HP:0004598	Supernumerary vertebral ossification centers	1/2	OMIM:215140
3930	LBR	HP:0004592	Thoracic platyspondyly	1/1	OMIM:618019
3930	LBR	HP:0100255	Metaphyseal dysplasia	1/1	OMIM:618019
3930	LBR	HP:0000989	Pruritus	HP:0040281	ORPHA:779
3930	LBR	HP:0000989	Pruritus	-	OMIM:613471
3930	LBR	HP:0000988	Skin rash	HP:0040282	ORPHA:779
3930	LBR	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3930	LBR	HP:0000952	Jaundice	HP:0040283	ORPHA:779
3930	LBR	HP:0000952	Jaundice	-	OMIM:613471
3930	LBR	HP:0000964	Eczematoid dermatitis	1/11	OMIM:169400
3930	LBR	HP:0005807	Absent distal phalanges	1/1	OMIM:215140
3930	LBR	HP:0009381	Short finger	1/2	OMIM:215140
3930	LBR	HP:0000286	Epicanthus	1/7	OMIM:615777
3930	LBR	HP:0000280	Coarse facial features	2/7	OMIM:615777
3930	LBR	HP:0000278	Retrognathia	1/1	OMIM:215140
3930	LBR	HP:0000256	Macrocephaly	1/3	OMIM:215140
3930	LBR	HP:0000256	Macrocephaly	2/11	OMIM:169400
3930	LBR	HP:0002829	Arthralgia	1/1	OMIM:613471
3930	LBR	HP:0002827	Hip dislocation	3/7	OMIM:615777
3930	LBR	HP:0002808	Kyphosis	1/11	OMIM:169400
3930	LBR	HP:0002808	Kyphosis	1/2	OMIM:618019
3930	LBR	HP:0006380	Knee flexion contracture	1/1	OMIM:618019
3930	LBR	HP:0000252	Microcephaly	-	OMIM:615777
3930	LBR	HP:0012219	Erythema nodosum	1/1	OMIM:613471
3930	LBR	HP:0001552	Barrel-shaped chest	2/2	OMIM:215140
3930	LBR	HP:0025520	Calcinosis cutis	-	OMIM:613471
3930	LBR	HP:0000217	Xerostomia	HP:0040282	ORPHA:779
3930	LBR	HP:0000212	Gingival overgrowth	1/1	OMIM:169400
3930	LBR	HP:0000214	Lip telangiectasia	-	OMIM:613471
3930	LBR	HP:0001561	Polyhydramnios	2/3	OMIM:215140
3930	LBR	HP:0002857	Genu valgum	-	OMIM:131300
3930	LBR	HP:0002857	Genu valgum	1/1	OMIM:618019
3930	LBR	HP:0001541	Ascites	HP:0040283	ORPHA:779
3930	LBR	HP:0001537	Umbilical hernia	1/1	OMIM:169400
3930	LBR	HP:0001538	Protuberant abdomen	4/5	OMIM:215140
3930	LBR	HP:0001538	Protuberant abdomen	1/2	OMIM:618019
3930	LBR	HP:0001533	Slender build	-	OMIM:131300
3930	LBR	HP:0001508	Failure to thrive	1/1	OMIM:169400
3930	LBR	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3930	LBR	HP:0007807	Optic nerve compression	-	OMIM:131300
3930	LBR	HP:0012378	Fatigue	HP:0040281	ORPHA:779
3930	LBR	HP:0012385	Camptodactyly	1/1	OMIM:618019
3930	LBR	HP:0012368	Flat face	7/7	OMIM:615777
3930	LBR	HP:0005257	Thoracic hypoplasia	1/1	OMIM:215140
3930	LBR	HP:0005257	Thoracic hypoplasia	1/1	OMIM:618019
3930	LBR	HP:0006559	Hepatic calcification	-	OMIM:215140
3930	LBR	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3930	LBR	HP:0002944	Thoracolumbar scoliosis	1/2	OMIM:618019
3930	LBR	HP:0002916	Abnormality of chromosome segregation	HP:0040281	OMIM:169400
3930	LBR	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:613471
3930	LBR	HP:0002904	Hyperbilirubinemia	-	OMIM:613471
3930	LBR	HP:0000365	Hearing impairment	10/67	OMIM:131300
3930	LBR	HP:0000369	Low-set ears	11/13	OMIM:215140
3930	LBR	HP:0000343	Long philtrum	1/7	OMIM:615777
3930	LBR	HP:0011001	Increased bone mineral density	-	OMIM:131300
3930	LBR	HP:0000336	Prominent supraorbital ridges	1/1	OMIM:215140
3930	LBR	HP:0000348	High forehead	-	OMIM:215140
3930	LBR	HP:0000347	Micrognathia	2/4	OMIM:215140
3930	LBR	HP:0000347	Micrognathia	HP:0040282	ORPHA:1426
3930	LBR	HP:0002983	Micromelia	4/7	OMIM:215140
3930	LBR	HP:0002983	Micromelia	HP:0040281	ORPHA:1426
3930	LBR	HP:0002980	Femoral bowing	2/2	OMIM:618019
3930	LBR	HP:0000316	Hypertelorism	2/5	OMIM:215140
3930	LBR	HP:0000316	Hypertelorism	1/1	OMIM:169400
3930	LBR	HP:0000311	Round face	2/7	OMIM:615777
3930	LBR	HP:0000327	Hypoplasia of the maxilla	2/3	OMIM:215140
3930	LBR	HP:0002986	Radial bowing	4/4	OMIM:618019
3930	LBR	HP:0001629	Ventricular septal defect	1/11	OMIM:169400
3930	LBR	HP:0002970	Genu varum	-	OMIM:615777
3930	LBR	HP:0030167	Antimitochondrial antibody positivity	1/1	OMIM:613471
3930	LBR	HP:0000303	Mandibular prognathia	-	OMIM:131300
3930	LBR	HP:0006619	Anterior rib punctate calcifications	1/1	OMIM:215140
3930	LBR	HP:0006619	Anterior rib punctate calcifications	HP:0040281	ORPHA:1426
3930	LBR	HP:0006610	Wide intermamillary distance	1/2	OMIM:618019
3930	LBR	HP:0006637	Sternal punctate calcifications	-	OMIM:215140
3930	LBR	HP:0006640	Multiple rib fractures	3/3	OMIM:215140
3930	LBR	HP:0006646	Costal cartilage calcification	1/1	OMIM:215140
3930	LBR	HP:0000403	Recurrent otitis media	1/1	OMIM:169400
3930	LBR	HP:0005280	Depressed nasal bridge	1/3	OMIM:215140
3930	LBR	HP:0005280	Depressed nasal bridge	1/1	OMIM:169400
3930	LBR	HP:0005280	Depressed nasal bridge	1/2	OMIM:618019
3930	LBR	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3930	LBR	HP:0000486	Strabismus	1/1	OMIM:169400
3930	LBR	HP:0000476	Cystic hygroma	2/2	OMIM:215140
3930	LBR	HP:0001790	Nonimmune hydrops fetalis	2/2	OMIM:215140
3930	LBR	HP:0001789	Hydrops fetalis	7/8	OMIM:215140
3930	LBR	HP:0000457	Depressed nasal ridge	3/4	OMIM:215140
3930	LBR	HP:0000470	Short neck	1/7	OMIM:615777
3930	LBR	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3930	LBR	HP:0001763	Pes planus	1/7	OMIM:615777
3930	LBR	HP:0025710	Late young adult onset	1/1	OMIM:613471
3930	LBR	HP:0001744	Splenomegaly	-	OMIM:613471
3930	LBR	HP:0001761	Pes cavus	1/1	OMIM:169400
3930	LBR	HP:0001840	Metatarsus adductus	-	OMIM:615777
3930	LBR	HP:0000520	Proptosis	2/4	OMIM:131300
3930	LBR	HP:0000520	Proptosis	7/7	OMIM:615777
3930	LBR	HP:0001830	Postaxial foot polydactyly	1/4	OMIM:215140
3930	LBR	HP:0000592	Blue sclerae	2/7	OMIM:615777
3930	LBR	HP:0011220	Prominent forehead	-	OMIM:169400
3930	LBR	HP:0001888	Decreased total lymphocyte count	1/1	OMIM:613471
3930	LBR	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3930	LBR	HP:0001881	Abnormal leukocyte morphology	HP:0040281	ORPHA:1426
3930	LBR	HP:0001883	Talipes	1/2	OMIM:215140
3930	LBR	HP:0012514	Lower limb pain	4/4	OMIM:131300
3930	LBR	HP:0001874	Abnormality of neutrophils	HP:0040280	OMIM:169400
3930	LBR	HP:0001873	Thrombocytopenia	1/11	OMIM:169400
3930	LBR	HP:0001875	Decreased total neutrophil count	1/11	OMIM:169400
3931	LCAT	HP:0000083	Renal insufficiency	-	OMIM:245900
3931	LCAT	HP:0000093	Proteinuria	1/1	OMIM:245900
3931	LCAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:245900
3931	LCAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:136120
3931	LCAT	HP:0002621	Atherosclerosis	HP:0040283	ORPHA:79292
3931	LCAT	HP:0025433	Decreased lecithin cholesterol acyl transferase level	1/1	OMIM:245900
3931	LCAT	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:79292
3931	LCAT	HP:0003362	Increased VLDL cholesterol concentration	-	OMIM:136120
3931	LCAT	HP:0002155	Hypertriglyceridemia	-	OMIM:245900
3931	LCAT	HP:0002155	Hypertriglyceridemia	-	OMIM:136120
3931	LCAT	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:79292
3931	LCAT	HP:0003581	Adult onset	1/1	OMIM:245900
3931	LCAT	HP:0003651	Foam cells	-	OMIM:245900
3931	LCAT	HP:0001084	Corneal arcus	1/1	OMIM:245900
3931	LCAT	HP:0003141	Increased LDL cholesterol concentration	-	OMIM:136120
3931	LCAT	HP:0003233	Decreased HDL cholesterol concentration	-	OMIM:245900
3931	LCAT	HP:0003233	Decreased HDL cholesterol concentration	-	OMIM:136120
3931	LCAT	HP:0003233	Decreased HDL cholesterol concentration	HP:0040281	ORPHA:79292
3931	LCAT	HP:0007759	Opacification of the corneal stroma	-	OMIM:136120
3931	LCAT	HP:0001681	Angina pectoris	HP:0040283	ORPHA:79292
3931	LCAT	HP:0007957	Corneal opacity	HP:0040281	ORPHA:79292
3931	LCAT	HP:0001744	Splenomegaly	HP:0040283	ORPHA:79292
3931	LCAT	HP:0000505	Visual impairment	HP:0040283	ORPHA:79292
3931	LCAT	HP:0001895	Normochromic anemia	-	OMIM:245900
3931	LCAT	HP:0001878	Hemolytic anemia	-	OMIM:245900
3932	LCK	HP:0025188	Retinal vasculitis	1/1	OMIM:615758
3932	LCK	HP:0032218	Decreased proportion of CD4-positive T cells	1/1	OMIM:615758
3932	LCK	HP:0000007	Autosomal recessive inheritance	-	OMIM:615758
3932	LCK	HP:0002783	Recurrent lower respiratory tract infections	1/1	OMIM:615758
3932	LCK	HP:0002788	Recurrent upper respiratory tract infections	1/1	OMIM:615758
3932	LCK	HP:0002720	Decreased circulating IgA concentration	1/1	OMIM:615758
3932	LCK	HP:0002721	Immunodeficiency	1/1	OMIM:615758
3932	LCK	HP:0002014	Diarrhea	1/1	OMIM:615758
3932	LCK	HP:0003593	Infantile onset	1/1	OMIM:615758
3932	LCK	HP:0009098	Chronic oral candidiasis	1/1	OMIM:615758
3932	LCK	HP:0001945	Fever	1/1	OMIM:615758
3932	LCK	HP:0001903	Anemia	1/1	OMIM:615758
3932	LCK	HP:0004315	Decreased circulating IgG concentration	1/1	OMIM:615758
3932	LCK	HP:0004385	Protracted diarrhea	1/1	OMIM:615758
3932	LCK	HP:0011463	Childhood onset	1/1	OMIM:615758
3932	LCK	HP:0030005	Capillary leak	1/1	OMIM:615758
3932	LCK	HP:0001541	Ascites	1/1	OMIM:615758
3932	LCK	HP:0001508	Failure to thrive	2/2	OMIM:615758
3932	LCK	HP:0002850	Decreased circulating total IgM	1/1	OMIM:615758
3932	LCK	HP:0025615	Abscess	1/1	OMIM:615758
3932	LCK	HP:0002960	Autoimmunity	1/1	OMIM:615758
3932	LCK	HP:0012490	Panniculitis	1/1	OMIM:615758
3932	LCK	HP:0001701	Pericarditis	1/1	OMIM:615758
3932	LCK	HP:0005479	Decreased circulating IgE concentration	1/1	OMIM:615758
3932	LCK	HP:0001873	Thrombocytopenia	1/1	OMIM:615758
3937	LCP2	HP:0032218	Decreased proportion of CD4-positive T cells	1/1	OMIM:619374
3937	LCP2	HP:0100838	Recurrent cutaneous abscess formation	1/1	OMIM:619374
3937	LCP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619374
3937	LCP2	HP:0012177	Abnormal natural killer cell physiology	1/1	OMIM:619374
3937	LCP2	HP:0002719	Recurrent infections	1/1	OMIM:619374
3937	LCP2	HP:0002721	Immunodeficiency	1/1	OMIM:619374
3937	LCP2	HP:0008320	Impaired collagen-induced platelet aggregation	1/1	OMIM:619374
3937	LCP2	HP:0003203	Decreased neutrophil oxidative burst	1/1	OMIM:619374
3937	LCP2	HP:0040238	Impaired neutrophil chemotaxis	1/1	OMIM:619374
3937	LCP2	HP:0000988	Skin rash	1/1	OMIM:619374
3937	LCP2	HP:0000967	Petechiae	1/1	OMIM:619374
3937	LCP2	HP:0031402	Reduced antigen-specific T cell proliferation	1/1	OMIM:619374
3937	LCP2	HP:0025615	Abscess	1/1	OMIM:619374
3937	LCP2	HP:0031545	Abnormally low T cell receptor excision circle level	1/1	OMIM:619374
3937	LCP2	HP:0001890	Autoimmune hemolytic anemia	1/1	OMIM:619374
3937	LCP2	HP:0030388	Decreased class-switched memory B cell proportion	1/1	OMIM:619374
3938	LCT	HP:0025130	Decreased small intestinal mucosa lactase level	-	OMIM:223000
3938	LCT	HP:0000007	Autosomal recessive inheritance	-	OMIM:223000
3938	LCT	HP:0002014	Diarrhea	-	OMIM:223000
3938	LCT	HP:0004789	Lactose intolerance	-	OMIM:223000
3938	LCT	HP:0003623	Neonatal onset	-	OMIM:223000
3938	LCT	HP:0001944	Dehydration	-	OMIM:223000
3938	LCT	HP:0001942	Metabolic acidosis	-	OMIM:223000
3939	LDHA	HP:0003738	Exercise-induced myalgia	HP:0040282	ORPHA:284426
3939	LDHA	HP:0007432	Intermittent generalized erythematous papular rash	HP:0040283	ORPHA:284426
3939	LDHA	HP:0000083	Renal insufficiency	-	OMIM:612933
3939	LDHA	HP:0031190	Superficial dermal perivascular inflammatory infiltrate	HP:0040283	ORPHA:284426
3939	LDHA	HP:0000007	Autosomal recessive inheritance	-	OMIM:612933
3939	LDHA	HP:0025474	Erythematous plaque	HP:0040282	ORPHA:284426
3939	LDHA	HP:0031236	Predominantly dermal neutrophilic infiltrate	HP:0040283	ORPHA:284426
3939	LDHA	HP:0003326	Myalgia	-	OMIM:612933
3939	LDHA	HP:0003394	Muscle spasm	-	OMIM:612933
3939	LDHA	HP:0002063	Rigidity	-	OMIM:612933
3939	LDHA	HP:0002046	Heat intolerance	HP:0040283	ORPHA:284426
3939	LDHA	HP:0003388	Easy fatigability	HP:0040282	ORPHA:284426
3939	LDHA	HP:0002151	Increased circulating lactate concentration	-	OMIM:612933
3939	LDHA	HP:0003552	Muscle stiffness	-	OMIM:612933
3939	LDHA	HP:0003546	Exercise intolerance	-	OMIM:612933
3939	LDHA	HP:0003542	Increased circulating pyruvate concentration	-	OMIM:612933
3939	LDHA	HP:0008331	Elevated creatine kinase after exercise	HP:0040282	ORPHA:284426
3939	LDHA	HP:0008305	Exercise-induced myoglobinuria	HP:0040282	ORPHA:284426
3939	LDHA	HP:0001036	Parakeratosis	HP:0040283	ORPHA:284426
3939	LDHA	HP:0200039	Pustule	HP:0040282	ORPHA:284426
3939	LDHA	HP:0003621	Juvenile onset	-	OMIM:612933
3939	LDHA	HP:0012622	Chronic kidney disease	HP:0040283	ORPHA:284426
3939	LDHA	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:284426
3939	LDHA	HP:0011356	Regional abnormality of skin	HP:0040282	ORPHA:284426
3939	LDHA	HP:0009045	Exercise-induced rhabdomyolysis	HP:0040282	ORPHA:284426
3939	LDHA	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:284426
3939	LDHA	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:612933
3939	LDHA	HP:0003201	Rhabdomyolysis	-	OMIM:612933
3939	LDHA	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:284426
3939	LDHA	HP:0000989	Pruritus	HP:0040284	ORPHA:284426
3939	LDHA	HP:0040189	Scaling skin	HP:0040282	ORPHA:284426
3939	LDHA	HP:0025526	Psoriasiform lesion	HP:0040282	ORPHA:284426
3939	LDHA	HP:0025528	Annular cutaneous lesion	HP:0040282	ORPHA:284426
3939	LDHA	HP:0002913	Myoglobinuria	-	OMIM:612933
3939	LDHA	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:284426
3939	LDHA	HP:0001787	Abnormal delivery	HP:0040282	ORPHA:284426
3945	LDHB	HP:0045041	Reduced circulating lactate dehydrogenase concentration	-	OMIM:614128
3949	LDLR	HP:0001138	Optic neuropathy	HP:0040284	ORPHA:391665
3949	LDLR	HP:0001114	Xanthelasma	-	OMIM:143890
3949	LDLR	HP:0010874	Tendon xanthomatosis	HP:0040283	ORPHA:391665
3949	LDLR	HP:0010874	Tendon xanthomatosis	-	OMIM:143890
3949	LDLR	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:391665
3949	LDLR	HP:0000007	Autosomal recessive inheritance	-	OMIM:143890
3949	LDLR	HP:0000006	Autosomal dominant inheritance	-	OMIM:143890
3949	LDLR	HP:0002094	Dyspnea	HP:0040282	ORPHA:391665
3949	LDLR	HP:0007201	Cerebral artery atherosclerosis	HP:0040282	ORPHA:391665
3949	LDLR	HP:0001084	Corneal arcus	-	OMIM:143890
3949	LDLR	HP:0004963	Calcification of the aorta	HP:0040283	ORPHA:391665
3949	LDLR	HP:0004950	Peripheral arterial stenosis	HP:0040282	ORPHA:391665
3949	LDLR	HP:0001920	Renal artery stenosis	HP:0040282	ORPHA:391665
3949	LDLR	HP:0012638	Abnormal nervous system physiology	HP:0040284	ORPHA:391665
3949	LDLR	HP:0003077	Hyperlipidemia	HP:0040280	ORPHA:391665
3949	LDLR	HP:0004381	Supravalvular aortic stenosis	HP:0040283	ORPHA:391665
3949	LDLR	HP:0000799	Renal steatosis	HP:0040283	ORPHA:391665
3949	LDLR	HP:0003124	Hypercholesterolemia	HP:0040280	ORPHA:391665
3949	LDLR	HP:0004416	Precocious atherosclerosis	HP:0040281	ORPHA:391665
3949	LDLR	HP:0003141	Increased LDL cholesterol concentration	HP:0040280	ORPHA:391665
3949	LDLR	HP:0003141	Increased LDL cholesterol concentration	-	OMIM:143890
3949	LDLR	HP:0000822	Hypertension	HP:0040282	ORPHA:391665
3949	LDLR	HP:0030882	Coronary artery aneurysm	HP:0040284	ORPHA:391665
3949	LDLR	HP:0100261	Abnormal tendon morphology	HP:0040282	ORPHA:391665
3949	LDLR	HP:0000991	Xanthomatosis	HP:0040283	ORPHA:391665
3949	LDLR	HP:0002829	Arthralgia	HP:0040283	ORPHA:391665
3949	LDLR	HP:0012397	Aortic atherosclerotic lesion	HP:0040282	ORPHA:391665
3949	LDLR	HP:0012373	Abnormal eye physiology	HP:0040284	ORPHA:391665
3949	LDLR	HP:0005177	Premature arteriosclerosis	HP:0040281	ORPHA:391665
3949	LDLR	HP:0005181	Premature coronary artery atherosclerosis	HP:0040282	ORPHA:391665
3949	LDLR	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:391665
3949	LDLR	HP:0001681	Angina pectoris	HP:0040282	ORPHA:391665
3949	LDLR	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:391665
3949	LDLR	HP:0001677	Coronary artery atherosclerosis	-	OMIM:143890
3949	LDLR	HP:0001645	Sudden cardiac death	HP:0040282	ORPHA:391665
3949	LDLR	HP:0030148	Heart murmur	HP:0040282	ORPHA:391665
3949	LDLR	HP:0001658	Myocardial infarction	HP:0040282	ORPHA:391665
3949	LDLR	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:391665
3949	LDLR	HP:0006693	Myocardial steatosis	HP:0040282	ORPHA:391665
3949	LDLR	HP:3000062	Abnormal internal carotid artery morphology	HP:0040282	ORPHA:391665
3952	LEP	HP:0032218	Decreased proportion of CD4-positive T cells	HP:0040281	ORPHA:66628
3952	LEP	HP:0002591	Polyphagia	HP:0040281	ORPHA:66628
3952	LEP	HP:0002591	Polyphagia	2/2	OMIM:614962
3952	LEP	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:66628
3952	LEP	HP:0008734	Decreased testicular size	-	OMIM:614962
3952	LEP	HP:0008724	Hypoplasia of the ovary	HP:0040281	ORPHA:66628
3952	LEP	HP:0000054	Micropenis	-	OMIM:614962
3952	LEP	HP:0000007	Autosomal recessive inheritance	-	OMIM:614962
3952	LEP	HP:0000135	Hypogonadism	-	OMIM:614962
3952	LEP	HP:0410018	Recurrent ear infections	-	OMIM:614962
3952	LEP	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:66628
3952	LEP	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:614962
3952	LEP	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:66628
3952	LEP	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:66628
3952	LEP	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:66628
3952	LEP	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:66628
3952	LEP	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	HP:0040282	ORPHA:66628
3952	LEP	HP:0005616	Accelerated skeletal maturation	HP:0040282	ORPHA:66628
3952	LEP	HP:0000771	Gynecomastia	HP:0040281	ORPHA:66628
3952	LEP	HP:0000771	Gynecomastia	-	OMIM:614962
3952	LEP	HP:0011463	Childhood onset	2/2	OMIM:614962
3952	LEP	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:66628
3952	LEP	HP:0000786	Primary amenorrhea	-	OMIM:614962
3952	LEP	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040282	ORPHA:66628
3952	LEP	HP:0000842	Hyperinsulinemia	HP:0040281	ORPHA:66628
3952	LEP	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:66628
3952	LEP	HP:0003292	Decreased serum leptin	2/2	OMIM:614962
3952	LEP	HP:0003292	Decreased serum leptin	HP:0040280	ORPHA:66628
3952	LEP	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:66628
3952	LEP	HP:0001513	Obesity	2/2	OMIM:614962
3952	LEP	HP:0001513	Obesity	HP:0040280	ORPHA:66628
3952	LEP	HP:0006532	Recurrent pneumonia	-	OMIM:614962
3952	LEP	HP:0005419	Decreased T cell activation	HP:0040281	ORPHA:66628
3953	LEPR	HP:0032218	Decreased proportion of CD4-positive T cells	HP:0040281	ORPHA:179494
3953	LEPR	HP:0001249	Intellectual disability	0/3	OMIM:614963
3953	LEPR	HP:0002591	Polyphagia	-	OMIM:614963
3953	LEPR	HP:0002591	Polyphagia	HP:0040281	ORPHA:179494
3953	LEPR	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:179494
3953	LEPR	HP:0008724	Hypoplasia of the ovary	HP:0040281	ORPHA:179494
3953	LEPR	HP:0000007	Autosomal recessive inheritance	-	OMIM:614963
3953	LEPR	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:614963
3953	LEPR	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:179494
3953	LEPR	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:179494
3953	LEPR	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:179494
3953	LEPR	HP:0008245	Pituitary hypothyroidism	-	OMIM:614963
3953	LEPR	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:179494
3953	LEPR	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:179494
3953	LEPR	HP:0003593	Infantile onset	3/3	OMIM:614963
3953	LEPR	HP:0100738	Abnormal eating behavior	3/3	OMIM:614963
3953	LEPR	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	HP:0040282	ORPHA:179494
3953	LEPR	HP:0004322	Short stature	-	OMIM:614963
3953	LEPR	HP:0005616	Accelerated skeletal maturation	HP:0040282	ORPHA:179494
3953	LEPR	HP:0000771	Gynecomastia	HP:0040281	ORPHA:179494
3953	LEPR	HP:0000718	Aggressive behavior	3/3	OMIM:614963
3953	LEPR	HP:0000712	Emotional lability	3/3	OMIM:614963
3953	LEPR	HP:0000712	Emotional lability	HP:0040282	ORPHA:179494
3953	LEPR	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:179494
3953	LEPR	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040282	ORPHA:179494
3953	LEPR	HP:0000842	Hyperinsulinemia	HP:0040281	ORPHA:179494
3953	LEPR	HP:0000819	Diabetes mellitus	HP:0040284	OMIM:614963
3953	LEPR	HP:0000815	Hypergonadotropic hypogonadism	3/3	OMIM:614963
3953	LEPR	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:179494
3953	LEPR	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:614963
3953	LEPR	HP:0000823	Delayed puberty	3/3	OMIM:614963
3953	LEPR	HP:0003292	Decreased serum leptin	HP:0040280	ORPHA:179494
3953	LEPR	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:179494
3953	LEPR	HP:0012286	Abnormal hypothalamus morphology	HP:0040280	OMIM:614963
3953	LEPR	HP:0001513	Obesity	3/3	OMIM:614963
3953	LEPR	HP:0001513	Obesity	HP:0040280	ORPHA:179494
3953	LEPR	HP:0002958	Immune dysregulation	-	OMIM:614963
3953	LEPR	HP:0005419	Decreased T cell activation	HP:0040281	ORPHA:179494
3954	LETM1	HP:0001177	Preaxial hand polydactyly	HP:0040282	ORPHA:280
3954	LETM1	HP:0001177	Preaxial hand polydactyly	HP:0040283	OMIM:194190
3954	LETM1	HP:0001171	Split hand	HP:0040282	ORPHA:280
3954	LETM1	HP:0001171	Split hand	HP:0040283	OMIM:194190
3954	LETM1	HP:0002487	Hyperkinetic movements	4/12	OMIM:620089
3954	LETM1	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:280
3954	LETM1	HP:0008619	Bilateral sensorineural hearing impairment	11/14	OMIM:620089
3954	LETM1	HP:0009918	Ectopia pupillae	-	OMIM:194190
3954	LETM1	HP:0009890	High anterior hairline	HP:0040281	ORPHA:280
3954	LETM1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:280
3954	LETM1	HP:0010864	Intellectual disability, severe	-	OMIM:194190
3954	LETM1	HP:0008551	Microtia	HP:0040281	ORPHA:280
3954	LETM1	HP:0003745	Sporadic	-	OMIM:194190
3954	LETM1	HP:0001290	Generalized hypotonia	HP:0040281	OMIM:194190
3954	LETM1	HP:0001272	Cerebellar atrophy	1/6	OMIM:620089
3954	LETM1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280
3954	LETM1	HP:0001274	Agenesis of corpus callosum	HP:0040283	OMIM:194190
3954	LETM1	HP:0001250	Seizure	HP:0040282	OMIM:194190
3954	LETM1	HP:0001250	Seizure	HP:0040281	ORPHA:280
3954	LETM1	HP:0001250	Seizure	10/15	OMIM:620089
3954	LETM1	HP:0001252	Hypotonia	HP:0040281	ORPHA:280
3954	LETM1	HP:0001252	Hypotonia	11/18	OMIM:620089
3954	LETM1	HP:0001251	Ataxia	HP:0040281	ORPHA:280
3954	LETM1	HP:0001251	Ataxia	7/9	OMIM:620089
3954	LETM1	HP:0001249	Intellectual disability	7/8	OMIM:620089
3954	LETM1	HP:0001263	Global developmental delay	HP:0040281	OMIM:194190
3954	LETM1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:280
3954	LETM1	HP:0001263	Global developmental delay	17/18	OMIM:620089
3954	LETM1	HP:0001257	Spasticity	8/15	OMIM:620089
3954	LETM1	HP:0007385	Aplasia cutis congenita of scalp	HP:0040282	ORPHA:280
3954	LETM1	HP:0007385	Aplasia cutis congenita of scalp	HP:0040283	OMIM:194190
3954	LETM1	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:280
3954	LETM1	HP:0410309	Alpha-aminoadipic aciduria	1/11	OMIM:620089
3954	LETM1	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:280
3954	LETM1	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:194190
3954	LETM1	HP:0002505	Loss of ambulation	6/18	OMIM:620089
3954	LETM1	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:280
3954	LETM1	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:280
3954	LETM1	HP:0000078	Abnormality of the genital system	HP:0040283	ORPHA:280
3954	LETM1	HP:0001385	Hip dysplasia	HP:0040283	OMIM:194190
3954	LETM1	HP:0000047	Hypospadias	HP:0040281	ORPHA:280
3954	LETM1	HP:0000047	Hypospadias	50%	OMIM:194190
3954	LETM1	HP:0001348	Brisk reflexes	4/10	OMIM:620089
3954	LETM1	HP:0001362	Calvarial skull defect	HP:0040282	ORPHA:280
3954	LETM1	HP:0000028	Cryptorchidism	50%	OMIM:194190
3954	LETM1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:280
3954	LETM1	HP:0008850	Severe postnatal growth retardation	HP:0040282	OMIM:194190
3954	LETM1	HP:0008830	Hypoplastic pubic ramus	HP:0040282	ORPHA:280
3954	LETM1	HP:0001331	Absent septum pellucidum	-	OMIM:194190
3954	LETM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620089
3954	LETM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:194190
3954	LETM1	HP:0001320	Cerebellar vermis hypoplasia	2/6	OMIM:620089
3954	LETM1	HP:0002650	Scoliosis	HP:0040282	OMIM:194190
3954	LETM1	HP:0002650	Scoliosis	HP:0040282	ORPHA:280
3954	LETM1	HP:0000188	Short upper lip	HP:0040282	OMIM:194190
3954	LETM1	HP:0000159	Abnormal lip morphology	HP:0040281	ORPHA:280
3954	LETM1	HP:0000175	Cleft palate	HP:0040283	ORPHA:280
3954	LETM1	HP:0000175	Cleft palate	-	OMIM:194190
3954	LETM1	HP:0000153	Abnormality of the mouth	HP:0040281	ORPHA:280
3954	LETM1	HP:0000151	Aplasia of the uterus	HP:0040283	ORPHA:280
3954	LETM1	HP:0000151	Aplasia of the uterus	HP:0040283	OMIM:194190
3954	LETM1	HP:0000119	Abnormality of the genitourinary system	25%	OMIM:194190
3954	LETM1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:280
3954	LETM1	HP:0002750	Delayed skeletal maturation	-	OMIM:194190
3954	LETM1	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:280
3954	LETM1	HP:0002714	Downturned corners of mouth	HP:0040281	ORPHA:280
3954	LETM1	HP:0002714	Downturned corners of mouth	HP:0040282	OMIM:194190
3954	LETM1	HP:0002720	Decreased circulating IgA concentration	HP:0040282	ORPHA:280
3954	LETM1	HP:0002721	Immunodeficiency	69%	OMIM:194190
3954	LETM1	HP:0002020	Gastroesophageal reflux	-	OMIM:194190
3954	LETM1	HP:0003363	Abdominal situs inversus	HP:0040283	ORPHA:280
3954	LETM1	HP:0002011	Morphological central nervous system abnormality	33%	OMIM:194190
3954	LETM1	HP:0002007	Frontal bossing	HP:0040281	ORPHA:280
3954	LETM1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:280
3954	LETM1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	OMIM:194190
3954	LETM1	HP:0002066	Gait ataxia	3/9	OMIM:620089
3954	LETM1	HP:0002057	Prominent glabella	HP:0040282	OMIM:194190
3954	LETM1	HP:0010464	Streak ovary	HP:0040283	ORPHA:280
3954	LETM1	HP:0002144	Tethered cord	HP:0040282	ORPHA:280
3954	LETM1	HP:0002144	Tethered cord	HP:0040283	OMIM:194190
3954	LETM1	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280
3954	LETM1	HP:0003487	Babinski sign	4/9	OMIM:620089
3954	LETM1	HP:0002151	Increased circulating lactate concentration	8/12	OMIM:620089
3954	LETM1	HP:0002119	Ventriculomegaly	-	OMIM:194190
3954	LETM1	HP:0004794	Malrotation of small bowel	-	OMIM:194190
3954	LETM1	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:280
3954	LETM1	HP:0002162	Low posterior hairline	-	OMIM:194190
3954	LETM1	HP:0011863	Abnormal sternal ossification	-	OMIM:194190
3954	LETM1	HP:0003593	Infantile onset	14/18	OMIM:620089
3954	LETM1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:280
3954	LETM1	HP:0003535	3-Methylglutaconic aciduria	5/11	OMIM:620089
3954	LETM1	HP:0100790	Hernia	HP:0040283	ORPHA:280
3954	LETM1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:280
3954	LETM1	HP:0002389	Cavum septum pellucidum	-	OMIM:194190
3954	LETM1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:280
3954	LETM1	HP:0001028	Hemangioma	HP:0040282	ORPHA:280
3954	LETM1	HP:0001028	Hemangioma	HP:0040282	OMIM:194190
3954	LETM1	HP:0002376	Developmental regression	9/13	OMIM:620089
3954	LETM1	HP:0002353	EEG abnormality	90%	OMIM:194190
3954	LETM1	HP:0009830	Peripheral neuropathy	3/9	OMIM:620089
3954	LETM1	HP:0001080	Biliary tract abnormality	HP:0040283	OMIM:194190
3954	LETM1	HP:0007109	Periventricular cysts	-	OMIM:194190
3954	LETM1	HP:0009778	Short thumb	HP:0040282	ORPHA:280
3954	LETM1	HP:0009778	Short thumb	HP:0040283	OMIM:194190
3954	LETM1	HP:0033407	Elevated urine acetoacetic acid level	1/11	OMIM:620089
3954	LETM1	HP:0000639	Nystagmus	HP:0040282	OMIM:194190
3954	LETM1	HP:0000639	Nystagmus	HP:0040283	ORPHA:280
3954	LETM1	HP:0000639	Nystagmus	7/13	OMIM:620089
3954	LETM1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:280
3954	LETM1	HP:0000648	Optic atrophy	5/6	OMIM:620089
3954	LETM1	HP:0000647	Sclerocornea	HP:0040283	ORPHA:280
3954	LETM1	HP:0000612	Iris coloboma	HP:0040282	ORPHA:280
3954	LETM1	HP:0000612	Iris coloboma	30%	OMIM:194190
3954	LETM1	HP:0034008	Opto-chiasmatic atrophy	4/6	OMIM:620089
3954	LETM1	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:280
3954	LETM1	HP:0000679	Taurodontia	HP:0040282	ORPHA:280
3954	LETM1	HP:0000668	Hypodontia	HP:0040281	ORPHA:280
3954	LETM1	HP:0000668	Hypodontia	HP:0040282	OMIM:194190
3954	LETM1	HP:0004322	Short stature	HP:0040282	OMIM:194190
3954	LETM1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:280
3954	LETM1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	OMIM:194190
3954	LETM1	HP:0009193	Metacarpal pseudoepiphysis	-	OMIM:194190
3954	LETM1	HP:0100022	Abnormality of movement	HP:0040283	ORPHA:280
3954	LETM1	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:280
3954	LETM1	HP:0000733	Motor stereotypy	HP:0040282	OMIM:194190
3954	LETM1	HP:0011463	Childhood onset	4/18	OMIM:620089
3954	LETM1	HP:0010109	Short hallux	HP:0040282	ORPHA:280
3954	LETM1	HP:0010109	Short hallux	HP:0040283	OMIM:194190
3954	LETM1	HP:0000776	Congenital diaphragmatic hernia	HP:0040282	ORPHA:280
3954	LETM1	HP:0003199	Decreased muscle mass	HP:0040281	OMIM:194190
3954	LETM1	HP:0000925	Abnormality of the vertebral column	HP:0040282	ORPHA:280
3954	LETM1	HP:0000902	Rib fusion	HP:0040282	ORPHA:280
3954	LETM1	HP:0000902	Rib fusion	HP:0040282	OMIM:194190
3954	LETM1	HP:0004484	Craniofacial asymmetry	HP:0040282	OMIM:194190
3954	LETM1	HP:0004467	Preauricular pit	HP:0040282	ORPHA:280
3954	LETM1	HP:0004467	Preauricular pit	HP:0040282	OMIM:194190
3954	LETM1	HP:0000826	Precocious puberty	-	OMIM:194190
3954	LETM1	HP:0003202	Skeletal muscle atrophy	7/10	OMIM:620089
3954	LETM1	HP:0000958	Dry skin	HP:0040282	ORPHA:280
3954	LETM1	HP:0000954	Single transverse palmar crease	HP:0040283	OMIM:194190
3954	LETM1	HP:0000960	Sacral dimple	HP:0040282	ORPHA:280
3954	LETM1	HP:0000960	Sacral dimple	HP:0040283	OMIM:194190
3954	LETM1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:280
3954	LETM1	HP:0000286	Epicanthus	HP:0040282	OMIM:194190
3954	LETM1	HP:0000286	Epicanthus	HP:0040281	ORPHA:280
3954	LETM1	HP:0000288	Abnormality of the philtrum	HP:0040281	ORPHA:280
3954	LETM1	HP:0000276	Long face	1/18	OMIM:620089
3954	LETM1	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:280
3954	LETM1	HP:0002827	Hip dislocation	-	OMIM:194190
3954	LETM1	HP:0002808	Kyphosis	HP:0040282	ORPHA:280
3954	LETM1	HP:0002808	Kyphosis	HP:0040282	OMIM:194190
3954	LETM1	HP:0000238	Hydrocephalus	HP:0040283	OMIM:194190
3954	LETM1	HP:0000252	Microcephaly	HP:0040282	OMIM:194190
3954	LETM1	HP:0000252	Microcephaly	HP:0040281	ORPHA:280
3954	LETM1	HP:0000218	High palate	1/18	OMIM:620089
3954	LETM1	HP:0001558	Decreased fetal movement	HP:0040281	ORPHA:280
3954	LETM1	HP:0001558	Decreased fetal movement	-	OMIM:194190
3954	LETM1	HP:0000202	Orofacial cleft	HP:0040282	OMIM:194190
3954	LETM1	HP:0000204	Cleft upper lip	HP:0040282	ORPHA:280
3954	LETM1	HP:0000204	Cleft upper lip	-	OMIM:194190
3954	LETM1	HP:0001508	Failure to thrive	HP:0040282	OMIM:194190
3954	LETM1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:280
3954	LETM1	HP:0001519	Disproportionate tall stature	HP:0040283	ORPHA:280
3954	LETM1	HP:0001518	Small for gestational age	HP:0040281	OMIM:194190
3954	LETM1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:280
3954	LETM1	HP:0001511	Intrauterine growth retardation	HP:0040281	OMIM:194190
3954	LETM1	HP:0001510	Growth delay	HP:0040281	OMIM:194190
3954	LETM1	HP:0000384	Preauricular skin tag	HP:0040282	OMIM:194190
3954	LETM1	HP:0000377	Abnormal pinna morphology	HP:0040282	OMIM:194190
3954	LETM1	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:280
3954	LETM1	HP:0005264	Abnormality of the gallbladder	HP:0040283	ORPHA:280
3954	LETM1	HP:0002948	Vertebral fusion	-	OMIM:194190
3954	LETM1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:280
3954	LETM1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:280
3954	LETM1	HP:0001698	Pericardial effusion	3/11	OMIM:620089
3954	LETM1	HP:0000369	Low-set ears	1/18	OMIM:620089
3954	LETM1	HP:0000341	Narrow forehead	1/18	OMIM:620089
3954	LETM1	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:280
3954	LETM1	HP:0000348	High forehead	HP:0040281	ORPHA:280
3954	LETM1	HP:0000348	High forehead	HP:0040282	OMIM:194190
3954	LETM1	HP:0000347	Micrognathia	HP:0040282	OMIM:194190
3954	LETM1	HP:0000347	Micrognathia	HP:0040281	ORPHA:280
3954	LETM1	HP:0000347	Micrognathia	2/18	OMIM:620089
3954	LETM1	HP:0000316	Hypertelorism	HP:0040282	OMIM:194190
3954	LETM1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:280
3954	LETM1	HP:0002974	Radioulnar synostosis	-	OMIM:194190
3954	LETM1	HP:0001654	Abnormal heart valve morphology	HP:0040282	ORPHA:280
3954	LETM1	HP:0000322	Short philtrum	HP:0040281	ORPHA:280
3954	LETM1	HP:0000322	Short philtrum	HP:0040282	OMIM:194190
3954	LETM1	HP:0001629	Ventricular septal defect	-	OMIM:194190
3954	LETM1	HP:0001638	Cardiomyopathy	5/14	OMIM:620089
3954	LETM1	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:280
3954	LETM1	HP:0001631	Atrial septal defect	27%	OMIM:194190
3954	LETM1	HP:0006655	Rib segmentation abnormalities	HP:0040282	ORPHA:280
3954	LETM1	HP:0006655	Rib segmentation abnormalities	HP:0040282	OMIM:194190
3954	LETM1	HP:0000407	Sensorineural hearing impairment	15%	OMIM:194190
3954	LETM1	HP:0000405	Conductive hearing impairment	40%	OMIM:194190
3954	LETM1	HP:0000402	Stenosis of the external auditory canal	HP:0040282	OMIM:194190
3954	LETM1	HP:0000486	Strabismus	HP:0040282	OMIM:194190
3954	LETM1	HP:0000486	Strabismus	HP:0040283	ORPHA:280
3954	LETM1	HP:0000485	Megalocornea	HP:0040283	ORPHA:280
3954	LETM1	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:280
3954	LETM1	HP:0000488	Retinopathy	HP:0040283	ORPHA:280
3954	LETM1	HP:0000465	Webbed neck	HP:0040283	OMIM:194190
3954	LETM1	HP:0000444	Convex nasal ridge	HP:0040282	OMIM:194190
3954	LETM1	HP:0001747	Accessory spleen	-	OMIM:194190
3954	LETM1	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:280
3954	LETM1	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:280
3954	LETM1	HP:0001762	Talipes equinovarus	HP:0040282	OMIM:194190
3954	LETM1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:280
3954	LETM1	HP:0000431	Wide nasal bridge	HP:0040282	OMIM:194190
3954	LETM1	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040282	ORPHA:280
3954	LETM1	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040283	ORPHA:280
3954	LETM1	HP:0000518	Cataract	5/11	OMIM:620089
3954	LETM1	HP:0001841	Preaxial foot polydactyly	HP:0040283	OMIM:194190
3954	LETM1	HP:0001840	Metatarsus adductus	-	OMIM:194190
3954	LETM1	HP:0000520	Proptosis	HP:0040283	ORPHA:280
3954	LETM1	HP:0000520	Proptosis	HP:0040282	OMIM:194190
3954	LETM1	HP:0000508	Ptosis	HP:0040282	OMIM:194190
3954	LETM1	HP:0000508	Ptosis	HP:0040282	ORPHA:280
3954	LETM1	HP:0000505	Visual impairment	10/10	OMIM:620089
3954	LETM1	HP:0000501	Glaucoma	HP:0040283	ORPHA:280
3954	LETM1	HP:0001812	Hyperconvex fingernails	-	OMIM:194190
3954	LETM1	HP:0000558	Rieger anomaly	HP:0040282	OMIM:194190
3955	LFNG	HP:0002435	Meningocele	HP:0040283	ORPHA:2311
3955	LFNG	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3955	LFNG	HP:0001293	Cranial nerve compression	-	OMIM:131300
3955	LFNG	HP:0001252	Hypotonia	2/7	OMIM:615777
3955	LFNG	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2311
3955	LFNG	HP:0001249	Intellectual disability	5/7	OMIM:615777
3955	LFNG	HP:0001263	Global developmental delay	-	OMIM:615777
3955	LFNG	HP:0001238	Slender finger	1/1	OMIM:609813
3955	LFNG	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:2311
3955	LFNG	HP:0010978	Abnormality of immune system physiology	HP:0040281	ORPHA:2311
3955	LFNG	HP:0002515	Waddling gait	54/102	OMIM:131300
3955	LFNG	HP:0000069	Abnormality of the ureter	HP:0040283	ORPHA:2311
3955	LFNG	HP:0001382	Joint hypermobility	-	OMIM:615777
3955	LFNG	HP:0000047	Hypospadias	HP:0040283	ORPHA:2311
3955	LFNG	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2311
3955	LFNG	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3955	LFNG	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2311
3955	LFNG	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3955	LFNG	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3955	LFNG	HP:0001324	Muscle weakness	40/96	OMIM:131300
3955	LFNG	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3955	LFNG	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:2311
3955	LFNG	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3955	LFNG	HP:0000007	Autosomal recessive inheritance	-	OMIM:609813
3955	LFNG	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3955	LFNG	HP:0002650	Scoliosis	HP:0040281	ORPHA:2311
3955	LFNG	HP:0002650	Scoliosis	1/1	OMIM:609813
3955	LFNG	HP:0002650	Scoliosis	12/14	OMIM:131300
3955	LFNG	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3955	LFNG	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3955	LFNG	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3955	LFNG	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3955	LFNG	HP:0000175	Cleft palate	HP:0040283	ORPHA:2311
3955	LFNG	HP:0000175	Cleft palate	2/7	OMIM:615777
3955	LFNG	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:2311
3955	LFNG	HP:0003311	Hypoplasia of the odontoid process	-	OMIM:609813
3955	LFNG	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2311
3955	LFNG	HP:0003388	Easy fatigability	36/76	OMIM:131300
3955	LFNG	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3955	LFNG	HP:0100589	Urogenital fistula	HP:0040283	ORPHA:2311
3955	LFNG	HP:0003422	Vertebral segmentation defect	1/1	OMIM:609813
3955	LFNG	HP:0003422	Vertebral segmentation defect	HP:0040281	ORPHA:2311
3955	LFNG	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2311
3955	LFNG	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:609813
3955	LFNG	HP:0003577	Congenital onset	1/1	OMIM:609813
3955	LFNG	HP:0003510	Severe short stature	7/7	OMIM:615777
3955	LFNG	HP:0002315	Headache	-	OMIM:131300
3955	LFNG	HP:0004976	Knee dislocation	6/7	OMIM:615777
3955	LFNG	HP:0009803	Short phalanx of finger	-	OMIM:615777
3955	LFNG	HP:0010772	Anomalous pulmonary venous return	HP:0040283	ORPHA:2311
3955	LFNG	HP:0009763	Limb pain	63/92	OMIM:131300
3955	LFNG	HP:0003621	Juvenile onset	-	OMIM:131300
3955	LFNG	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3955	LFNG	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3955	LFNG	HP:6001056	Out-toeing	-	OMIM:131300
3955	LFNG	HP:0000651	Diplopia	-	OMIM:131300
3955	LFNG	HP:0001956	Truncal obesity	2/7	OMIM:615777
3955	LFNG	HP:0001903	Anemia	HP:0040283	OMIM:131300
3955	LFNG	HP:0010049	Short metacarpal	-	OMIM:615777
3955	LFNG	HP:0000678	Dental crowding	-	OMIM:615777
3955	LFNG	HP:0000670	Carious teeth	-	OMIM:131300
3955	LFNG	HP:0011304	Broad thumb	2/7	OMIM:615777
3955	LFNG	HP:0000668	Hypodontia	-	OMIM:615777
3955	LFNG	HP:0000664	Synophrys	-	OMIM:615777
3955	LFNG	HP:0004322	Short stature	HP:0040281	ORPHA:2311
3955	LFNG	HP:0004322	Short stature	1/1	OMIM:609813
3955	LFNG	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2311
3955	LFNG	HP:0004396	Poor appetite	-	OMIM:131300
3955	LFNG	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3955	LFNG	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3955	LFNG	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3955	LFNG	HP:0003026	Short long bone	7/7	OMIM:615777
3955	LFNG	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3955	LFNG	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:2311
3955	LFNG	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3955	LFNG	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3955	LFNG	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3955	LFNG	HP:0000750	Delayed speech and language development	-	OMIM:615777
3955	LFNG	HP:0011461	Fetal onset	7/7	OMIM:615777
3955	LFNG	HP:0000774	Narrow chest	2/7	OMIM:615777
3955	LFNG	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:2311
3955	LFNG	HP:0000926	Platyspondyly	1/7	OMIM:615777
3955	LFNG	HP:0003180	Flat acetabular roof	-	OMIM:615777
3955	LFNG	HP:0000902	Rib fusion	HP:0040281	ORPHA:2311
3955	LFNG	HP:0000902	Rib fusion	-	OMIM:609813
3955	LFNG	HP:0004482	Relative macrocephaly	-	OMIM:615777
3955	LFNG	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3955	LFNG	HP:0000823	Delayed puberty	-	OMIM:131300
3955	LFNG	HP:0000894	Short clavicles	-	OMIM:615777
3955	LFNG	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3955	LFNG	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:2311
3955	LFNG	HP:0004598	Supernumerary vertebral ossification centers	1/1	OMIM:609813
3955	LFNG	HP:0010306	Short thorax	HP:0040281	ORPHA:2311
3955	LFNG	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3955	LFNG	HP:0000286	Epicanthus	1/7	OMIM:615777
3955	LFNG	HP:0000280	Coarse facial features	2/7	OMIM:615777
3955	LFNG	HP:0000256	Macrocephaly	HP:0040283	ORPHA:2311
3955	LFNG	HP:0000269	Prominent occiput	HP:0040283	ORPHA:2311
3955	LFNG	HP:0005108	Abnormal intervertebral disk morphology	HP:0040281	ORPHA:2311
3955	LFNG	HP:0002827	Hip dislocation	3/7	OMIM:615777
3955	LFNG	HP:0002808	Kyphosis	HP:0040282	ORPHA:2311
3955	LFNG	HP:0002808	Kyphosis	-	OMIM:609813
3955	LFNG	HP:0000252	Microcephaly	HP:0040283	ORPHA:2311
3955	LFNG	HP:0000252	Microcephaly	-	OMIM:615777
3955	LFNG	HP:0002857	Genu valgum	-	OMIM:131300
3955	LFNG	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2311
3955	LFNG	HP:0001533	Slender build	-	OMIM:131300
3955	LFNG	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2311
3955	LFNG	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3955	LFNG	HP:0007807	Optic nerve compression	-	OMIM:131300
3955	LFNG	HP:0012368	Flat face	7/7	OMIM:615777
3955	LFNG	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3955	LFNG	HP:0000365	Hearing impairment	10/67	OMIM:131300
3955	LFNG	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:2311
3955	LFNG	HP:0000343	Long philtrum	HP:0040283	ORPHA:2311
3955	LFNG	HP:0000343	Long philtrum	1/7	OMIM:615777
3955	LFNG	HP:0011001	Increased bone mineral density	-	OMIM:131300
3955	LFNG	HP:0000337	Broad forehead	HP:0040283	ORPHA:2311
3955	LFNG	HP:0000311	Round face	2/7	OMIM:615777
3955	LFNG	HP:0002970	Genu varum	-	OMIM:615777
3955	LFNG	HP:0000303	Mandibular prognathia	-	OMIM:131300
3955	LFNG	HP:0006655	Rib segmentation abnormalities	HP:0040281	ORPHA:2311
3955	LFNG	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:2311
3955	LFNG	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3955	LFNG	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2311
3955	LFNG	HP:0000470	Short neck	HP:0040281	ORPHA:2311
3955	LFNG	HP:0000470	Short neck	1/7	OMIM:615777
3955	LFNG	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3955	LFNG	HP:0001763	Pes planus	1/7	OMIM:615777
3955	LFNG	HP:0001840	Metatarsus adductus	-	OMIM:615777
3955	LFNG	HP:0000520	Proptosis	2/4	OMIM:131300
3955	LFNG	HP:0000520	Proptosis	7/7	OMIM:615777
3955	LFNG	HP:0000592	Blue sclerae	2/7	OMIM:615777
3955	LFNG	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3955	LFNG	HP:0012514	Lower limb pain	4/4	OMIM:131300
3972	LHB	HP:0008669	Abnormal spermatogenesis	-	OMIM:228300
3972	LHB	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:228300
3972	LHB	HP:0000054	Micropenis	-	OMIM:228300
3972	LHB	HP:0033810	Decreased circulating dihydrotestosterone concentration	1/1	OMIM:228300
3972	LHB	HP:0000026	Male hypogonadism	2/2	OMIM:228300
3972	LHB	HP:0000027	Azoospermia	3/3	OMIM:228300
3972	LHB	HP:0000007	Autosomal recessive inheritance	-	OMIM:228300
3972	LHB	HP:0000138	Ovarian cyst	-	OMIM:228300
3972	LHB	HP:0008232	Elevated circulating follicle stimulating hormone level	3/3	OMIM:228300
3972	LHB	HP:0008226	Androgen insufficiency	-	OMIM:228300
3972	LHB	HP:0002215	Sparse axillary hair	1/1	OMIM:228300
3972	LHB	HP:0002225	Sparse pubic hair	1/1	OMIM:228300
3972	LHB	HP:0010789	Abnormality of the Leydig cells	-	OMIM:228300
3972	LHB	HP:0000771	Gynecomastia	2/3	OMIM:228300
3972	LHB	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:228300
3972	LHB	HP:0000876	Oligomenorrhea	-	OMIM:228300
3972	LHB	HP:0000869	Secondary amenorrhea	-	OMIM:228300
3972	LHB	HP:0000823	Delayed puberty	-	OMIM:228300
3972	LHB	HP:0040171	Decreased serum testosterone concentration	4/4	OMIM:228300
3972	LHB	HP:0012215	Testicular microlithiasis	-	OMIM:228300
3972	LHB	HP:0025708	Early young adult onset	2/2	OMIM:228300
3972	LHB	HP:0030344	Decreased circulating luteinizing hormone level	3/3	OMIM:228300
3973	LHCGR	HP:0008734	Decreased testicular size	-	OMIM:176410
3973	LHCGR	HP:0000098	Tall stature	HP:0040281	ORPHA:3000
3973	LHCGR	HP:0000040	Long penis	HP:0040282	ORPHA:3000
3973	LHCGR	HP:0000053	Macroorchidism	HP:0040283	ORPHA:3000
3973	LHCGR	HP:0000007	Autosomal recessive inheritance	-	OMIM:238320
3973	LHCGR	HP:0001470	Sex-limited expression	-	OMIM:176410
3973	LHCGR	HP:0008185	Precocious puberty in males	-	OMIM:176410
3973	LHCGR	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:3000
3973	LHCGR	HP:0001061	Acne	HP:0040282	ORPHA:3000
3973	LHCGR	HP:0005616	Accelerated skeletal maturation	HP:0040281	ORPHA:3000
3973	LHCGR	HP:0000708	Atypical behavior	HP:0040283	ORPHA:3000
3973	LHCGR	HP:0000798	Oligozoospermia	HP:0040283	ORPHA:3000
3973	LHCGR	HP:0000837	Increased circulating gonadotropin level	-	OMIM:238320
3973	LHCGR	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:238320
3973	LHCGR	HP:0000826	Precocious puberty	HP:0040281	ORPHA:3000
3973	LHCGR	HP:0003251	Male infertility	HP:0040281	ORPHA:3000
3973	LHCGR	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:3000
3975	LHX1	HP:0002463	Language impairment	HP:0040283	ORPHA:261265
3975	LHX1	HP:0100801	Pancreatic aplasia	HP:0040283	ORPHA:261265
3975	LHX1	HP:0001250	Seizure	HP:0040283	ORPHA:261265
3975	LHX1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:261265
3975	LHX1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:261265
3975	LHX1	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:261265
3975	LHX1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:261265
3975	LHX1	HP:0000070	Ureterocele	HP:0040283	ORPHA:261265
3975	LHX1	HP:0000049	Shawl scrotum	HP:0040283	ORPHA:261265
3975	LHX1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:261265
3975	LHX1	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:261265
3975	LHX1	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:261265
3975	LHX1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:261265
3975	LHX1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:261265
3975	LHX1	HP:0004322	Short stature	HP:0040282	ORPHA:261265
3975	LHX1	HP:0000717	Autism	HP:0040283	ORPHA:261265
3975	LHX1	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:261265
3975	LHX1	HP:0000239	Large fontanelles	HP:0040283	ORPHA:261265
3975	LHX1	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:261265
3975	LHX1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:261265
3975	LHX1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:261265
3977	LIFR	HP:0001181	Adducted thumb	-	OMIM:601559
3977	LIFR	HP:0002486	Myotonia	-	OMIM:601559
3977	LIFR	HP:0001156	Brachydactyly	2/6	OMIM:601559
3977	LIFR	HP:0007328	Impaired pain sensation	HP:0040282	ORPHA:3206
3977	LIFR	HP:0007328	Impaired pain sensation	6/6	OMIM:601559
3977	LIFR	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
3977	LIFR	HP:0001293	Cranial nerve compression	-	OMIM:131300
3977	LIFR	HP:0001290	Generalized hypotonia	-	OMIM:601559
3977	LIFR	HP:0001256	Intellectual disability, mild	-	OMIM:259770
3977	LIFR	HP:0001250	Seizure	2/12	OMIM:601559
3977	LIFR	HP:0001252	Hypotonia	HP:0040283	ORPHA:3206
3977	LIFR	HP:0001252	Hypotonia	-	OMIM:259770
3977	LIFR	HP:0001252	Hypotonia	6/6	OMIM:601559
3977	LIFR	HP:0001252	Hypotonia	2/7	OMIM:615777
3977	LIFR	HP:0001249	Intellectual disability	0/6	OMIM:601559
3977	LIFR	HP:0001249	Intellectual disability	5/7	OMIM:615777
3977	LIFR	HP:0001263	Global developmental delay	1/1	OMIM:612394
3977	LIFR	HP:0001263	Global developmental delay	-	OMIM:615777
3977	LIFR	HP:0100865	Broad ischia	-	OMIM:601559
3977	LIFR	HP:0001217	Clubbing	3/6	OMIM:601559
3977	LIFR	HP:0002515	Waddling gait	54/102	OMIM:131300
3977	LIFR	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:3206
3977	LIFR	HP:0001371	Flexion contracture	HP:0040282	ORPHA:3206
3977	LIFR	HP:0001382	Joint hypermobility	-	OMIM:259770
3977	LIFR	HP:0001382	Joint hypermobility	-	OMIM:615777
3977	LIFR	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
3977	LIFR	HP:0002694	Sclerosis of skull base	-	OMIM:131300
3977	LIFR	HP:0008897	Postnatal growth retardation	-	OMIM:615777
3977	LIFR	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
3977	LIFR	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:3206
3977	LIFR	HP:0008824	Hypoplastic iliac body	-	OMIM:601559
3977	LIFR	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
3977	LIFR	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
3977	LIFR	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
3977	LIFR	HP:0001324	Muscle weakness	40/96	OMIM:131300
3977	LIFR	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
3977	LIFR	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
3977	LIFR	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
3977	LIFR	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
3977	LIFR	HP:0000007	Autosomal recessive inheritance	-	OMIM:601559
3977	LIFR	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
3977	LIFR	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:3206
3977	LIFR	HP:0002650	Scoliosis	1/5	OMIM:259770
3977	LIFR	HP:0002650	Scoliosis	HP:0040282	ORPHA:3206
3977	LIFR	HP:0002650	Scoliosis	1/1	OMIM:612394
3977	LIFR	HP:0002650	Scoliosis	10/14	OMIM:601559
3977	LIFR	HP:0002650	Scoliosis	12/14	OMIM:131300
3977	LIFR	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
3977	LIFR	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
3977	LIFR	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
3977	LIFR	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
3977	LIFR	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:3206
3977	LIFR	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
3977	LIFR	HP:0000175	Cleft palate	2/7	OMIM:615777
3977	LIFR	HP:0005019	Diaphyseal undertubulation	14/14	OMIM:601559
3977	LIFR	HP:0007610	Blotching pigmentation of the skin	-	OMIM:601559
3977	LIFR	HP:0002757	Recurrent fractures	4/5	OMIM:259770
3977	LIFR	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:3206
3977	LIFR	HP:0002756	Pathologic fracture	-	OMIM:259770
3977	LIFR	HP:0002756	Pathologic fracture	2/6	OMIM:601559
3977	LIFR	HP:0002756	Pathologic fracture	1/1	OMIM:612394
3977	LIFR	HP:0002751	Kyphoscoliosis	-	OMIM:259770
3977	LIFR	HP:0002719	Recurrent infections	12/12	OMIM:601559
3977	LIFR	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
3977	LIFR	HP:0004684	Talipes valgus	-	OMIM:601559
3977	LIFR	HP:0002015	Dysphagia	-	OMIM:601559
3977	LIFR	HP:0002007	Frontal bossing	2/6	OMIM:601559
3977	LIFR	HP:0003300	Ovoid vertebral bodies	1/6	OMIM:601559
3977	LIFR	HP:0011800	Midface retrusion	4/6	OMIM:601559
3977	LIFR	HP:0002089	Pulmonary hypoplasia	-	OMIM:601559
3977	LIFR	HP:0002098	Respiratory distress	HP:0040282	ORPHA:3206
3977	LIFR	HP:0002099	Asthma	HP:0040282	ORPHA:3206
3977	LIFR	HP:0002092	Pulmonary arterial hypertension	-	OMIM:601559
3977	LIFR	HP:0002093	Respiratory insufficiency	6/6	OMIM:601559
3977	LIFR	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
3977	LIFR	HP:0003388	Easy fatigability	36/76	OMIM:131300
3977	LIFR	HP:0009465	Ulnar deviation of finger	-	OMIM:601559
3977	LIFR	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
3977	LIFR	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
3977	LIFR	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
3977	LIFR	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
3977	LIFR	HP:0002104	Apnea	-	OMIM:601559
3977	LIFR	HP:0002104	Apnea	HP:0040282	ORPHA:3206
3977	LIFR	HP:0002164	Nail dysplasia	1/1	OMIM:612394
3977	LIFR	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:3206
3977	LIFR	HP:0010557	Overlapping fingers	1/2	OMIM:612394
3977	LIFR	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
3977	LIFR	HP:0003401	Paresthesia	HP:0040281	ORPHA:3206
3977	LIFR	HP:0003593	Infantile onset	1/5	OMIM:259770
3977	LIFR	HP:0003577	Congenital onset	4/5	OMIM:259770
3977	LIFR	HP:0003577	Congenital onset	12/12	OMIM:601559
3977	LIFR	HP:0002208	Coarse hair	1/1	OMIM:612394
3977	LIFR	HP:0011968	Feeding difficulties	6/6	OMIM:601559
3977	LIFR	HP:0003510	Severe short stature	7/7	OMIM:615777
3977	LIFR	HP:0001056	Milia	5/12	OMIM:601559
3977	LIFR	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
3977	LIFR	HP:0025019	Arterial rupture	1/1	OMIM:612394
3977	LIFR	HP:0004980	Metaphyseal rarefaction	6/6	OMIM:601559
3977	LIFR	HP:0002315	Headache	-	OMIM:131300
3977	LIFR	HP:0004976	Knee dislocation	6/7	OMIM:615777
3977	LIFR	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
3977	LIFR	HP:0100678	Premature skin wrinkling	2/6	OMIM:601559
3977	LIFR	HP:0009803	Short phalanx of finger	-	OMIM:615777
3977	LIFR	HP:0009803	Short phalanx of finger	-	OMIM:601559
3977	LIFR	HP:0001089	Iris atrophy	-	OMIM:259770
3977	LIFR	HP:0009763	Limb pain	63/92	OMIM:131300
3977	LIFR	HP:0009765	Low hanging columella	6/6	OMIM:601559
3977	LIFR	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
3977	LIFR	HP:0004964	Pulmonary arterial medial hypertrophy	-	OMIM:601559
3977	LIFR	HP:0003621	Juvenile onset	-	OMIM:131300
3977	LIFR	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
3977	LIFR	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
3977	LIFR	HP:0006844	Absent patellar reflexes	8/14	OMIM:601559
3977	LIFR	HP:0006844	Absent patellar reflexes	HP:0040283	ORPHA:3206
3977	LIFR	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
3977	LIFR	HP:0000633	Decreased lacrimation	8/12	OMIM:601559
3977	LIFR	HP:0000632	Lacrimation abnormality	HP:0040282	ORPHA:3206
3977	LIFR	HP:6001056	Out-toeing	-	OMIM:131300
3977	LIFR	HP:0000651	Diplopia	-	OMIM:131300
3977	LIFR	HP:0000618	Blindness	5/5	OMIM:259770
3977	LIFR	HP:0001945	Fever	6/6	OMIM:601559
3977	LIFR	HP:0001954	Recurrent fever	-	OMIM:601559
3977	LIFR	HP:0001954	Recurrent fever	HP:0040281	ORPHA:3206
3977	LIFR	HP:0001956	Truncal obesity	2/7	OMIM:615777
3977	LIFR	HP:0001903	Anemia	HP:0040283	OMIM:131300
3977	LIFR	HP:0010049	Short metacarpal	-	OMIM:615777
3977	LIFR	HP:0000678	Dental crowding	-	OMIM:615777
3977	LIFR	HP:0000670	Carious teeth	-	OMIM:131300
3977	LIFR	HP:0000670	Carious teeth	3/3	OMIM:601559
3977	LIFR	HP:0011304	Broad thumb	2/7	OMIM:615777
3977	LIFR	HP:0000668	Hypodontia	-	OMIM:615777
3977	LIFR	HP:0000667	Phthisis bulbi	-	OMIM:259770
3977	LIFR	HP:0000664	Synophrys	-	OMIM:615777
3977	LIFR	HP:0004322	Short stature	HP:0040281	ORPHA:3206
3977	LIFR	HP:0004322	Short stature	-	OMIM:259770
3977	LIFR	HP:0004322	Short stature	2/6	OMIM:601559
3977	LIFR	HP:0004396	Poor appetite	-	OMIM:131300
3977	LIFR	HP:0003037	Enlarged joints	11/14	OMIM:601559
3977	LIFR	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
3977	LIFR	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
3977	LIFR	HP:0004370	Abnormality of temperature regulation	6/6	OMIM:601559
3977	LIFR	HP:0003015	Flared metaphysis	-	OMIM:601559
3977	LIFR	HP:0003016	Metaphyseal widening	-	OMIM:259770
3977	LIFR	HP:0003016	Metaphyseal widening	HP:0040281	ORPHA:3206
3977	LIFR	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
3977	LIFR	HP:0003026	Short long bone	7/7	OMIM:615777
3977	LIFR	HP:0003026	Short long bone	-	OMIM:601559
3977	LIFR	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
3977	LIFR	HP:0012745	Short palpebral fissure	12/12	OMIM:601559
3977	LIFR	HP:0000767	Pectus excavatum	2/7	OMIM:615777
3977	LIFR	HP:0000768	Pectus carinatum	1/7	OMIM:615777
3977	LIFR	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
3977	LIFR	HP:0100028	Ectopic thyroid	HP:0040283	ORPHA:3206
3977	LIFR	HP:0000750	Delayed speech and language development	-	OMIM:615777
3977	LIFR	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	6/6	OMIM:601559
3977	LIFR	HP:0012785	Flexion contracture of finger	HP:0040282	ORPHA:3206
3977	LIFR	HP:0011461	Fetal onset	7/7	OMIM:615777
3977	LIFR	HP:0011461	Fetal onset	2/2	OMIM:612394
3977	LIFR	HP:0000774	Narrow chest	2/7	OMIM:615777
3977	LIFR	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
3977	LIFR	HP:0003103	Abnormal cortical bone morphology	HP:0040281	ORPHA:3206
3977	LIFR	HP:0005736	Short tibia	-	OMIM:601559
3977	LIFR	HP:0003196	Short nose	-	OMIM:601559
3977	LIFR	HP:0003196	Short nose	1/1	OMIM:612394
3977	LIFR	HP:0000926	Platyspondyly	-	OMIM:259770
3977	LIFR	HP:0000926	Platyspondyly	1/7	OMIM:615777
3977	LIFR	HP:0000926	Platyspondyly	1/1	OMIM:612394
3977	LIFR	HP:0003180	Flat acetabular roof	-	OMIM:615777
3977	LIFR	HP:0004482	Relative macrocephaly	-	OMIM:615777
3977	LIFR	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
3977	LIFR	HP:0000883	Thin ribs	-	OMIM:601559
3977	LIFR	HP:0012810	Wide nasal base	6/6	OMIM:601559
3977	LIFR	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
3977	LIFR	HP:0034252	Absent corneal reflex	8/8	OMIM:601559
3977	LIFR	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:3206
3977	LIFR	HP:0000823	Delayed puberty	-	OMIM:131300
3977	LIFR	HP:0010298	Smooth tongue	HP:0040282	ORPHA:3206
3977	LIFR	HP:0010298	Smooth tongue	13/14	OMIM:601559
3977	LIFR	HP:0000894	Short clavicles	-	OMIM:615777
3977	LIFR	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
3977	LIFR	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
3977	LIFR	HP:0005830	Flexion contracture of toe	-	OMIM:601559
3977	LIFR	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
3977	LIFR	HP:0008000	Decreased corneal reflex	HP:0040283	ORPHA:3206
3977	LIFR	HP:0000975	Hyperhidrosis	5/5	OMIM:601559
3977	LIFR	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:3206
3977	LIFR	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
3977	LIFR	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
3977	LIFR	HP:0000954	Single transverse palmar crease	-	OMIM:601559
3977	LIFR	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:3206
3977	LIFR	HP:0000960	Sacral dimple	HP:0040283	ORPHA:3206
3977	LIFR	HP:0000963	Thin skin	-	OMIM:601559
3977	LIFR	HP:0000939	Osteoporosis	HP:0040282	ORPHA:3206
3977	LIFR	HP:0000939	Osteoporosis	4/5	OMIM:259770
3977	LIFR	HP:0000939	Osteoporosis	6/6	OMIM:601559
3977	LIFR	HP:0000935	Thickened cortex of long bones	HP:0040281	ORPHA:3206
3977	LIFR	HP:0000935	Thickened cortex of long bones	-	OMIM:601559
3977	LIFR	HP:0000938	Osteopenia	HP:0040282	ORPHA:3206
3977	LIFR	HP:0000938	Osteopenia	1/5	OMIM:259770
3977	LIFR	HP:0000938	Osteopenia	1/1	OMIM:612394
3977	LIFR	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:3206
3977	LIFR	HP:0008070	Sparse hair	12/12	OMIM:601559
3977	LIFR	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
3977	LIFR	HP:0000286	Epicanthus	1/7	OMIM:615777
3977	LIFR	HP:0000280	Coarse facial features	2/7	OMIM:615777
3977	LIFR	HP:0000293	Full cheeks	12/12	OMIM:601559
3977	LIFR	HP:0000272	Malar flattening	-	OMIM:601559
3977	LIFR	HP:0000272	Malar flattening	1/1	OMIM:612394
3977	LIFR	HP:0007773	Vitreoretinopathy	-	OMIM:259770
3977	LIFR	HP:0007759	Opacification of the corneal stroma	-	OMIM:601559
3977	LIFR	HP:0002827	Hip dislocation	3/7	OMIM:615777
3977	LIFR	HP:0005089	Abnormal metaphyseal trabeculation	-	OMIM:601559
3977	LIFR	HP:0002808	Kyphosis	1/5	OMIM:259770
3977	LIFR	HP:0006380	Knee flexion contracture	-	OMIM:601559
3977	LIFR	HP:0006380	Knee flexion contracture	HP:0040282	ORPHA:3206
3977	LIFR	HP:0000252	Microcephaly	-	OMIM:259770
3977	LIFR	HP:0000252	Microcephaly	-	OMIM:615777
3977	LIFR	HP:0001552	Barrel-shaped chest	-	OMIM:259770
3977	LIFR	HP:0001562	Oligohydramnios	1/6	OMIM:601559
3977	LIFR	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:3206
3977	LIFR	HP:0000233	Thin vermilion border	12/12	OMIM:601559
3977	LIFR	HP:0002857	Genu valgum	-	OMIM:131300
3977	LIFR	HP:0002857	Genu valgum	HP:0040282	ORPHA:3206
3977	LIFR	HP:0001522	Death in infancy	3/6	OMIM:601559
3977	LIFR	HP:0000211	Trismus	HP:0040282	ORPHA:3206
3977	LIFR	HP:0000205	Pursed lips	5/6	OMIM:601559
3977	LIFR	HP:0001533	Slender build	-	OMIM:131300
3977	LIFR	HP:0001511	Intrauterine growth retardation	0/6	OMIM:601559
3977	LIFR	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:3206
3977	LIFR	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
3977	LIFR	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
3977	LIFR	HP:0007807	Optic nerve compression	-	OMIM:131300
3977	LIFR	HP:0012385	Camptodactyly	6/6	OMIM:601559
3977	LIFR	HP:0012368	Flat face	7/7	OMIM:615777
3977	LIFR	HP:0012368	Flat face	1/1	OMIM:612394
3977	LIFR	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
3977	LIFR	HP:0007875	Congenital blindness	4/5	OMIM:259770
3977	LIFR	HP:0007862	Retinal calcification	1/5	OMIM:259770
3977	LIFR	HP:0001609	Hoarse voice	-	OMIM:601559
3977	LIFR	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
3977	LIFR	HP:0001611	Hypernasal speech	-	OMIM:601559
3977	LIFR	HP:0006487	Bowing of the long bones	-	OMIM:601559
3977	LIFR	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:3206
3977	LIFR	HP:0000365	Hearing impairment	10/67	OMIM:131300
3977	LIFR	HP:0000369	Low-set ears	2/2	OMIM:612394
3977	LIFR	HP:0000369	Low-set ears	6/6	OMIM:601559
3977	LIFR	HP:0000343	Long philtrum	1/7	OMIM:615777
3977	LIFR	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040281	ORPHA:3206
3977	LIFR	HP:0012332	Abnormal autonomic nervous system physiology	-	OMIM:601559
3977	LIFR	HP:0011001	Increased bone mineral density	-	OMIM:131300
3977	LIFR	HP:0000347	Micrognathia	5/6	OMIM:601559
3977	LIFR	HP:0002982	Tibial bowing	1/5	OMIM:259770
3977	LIFR	HP:0002982	Tibial bowing	-	OMIM:601559
3977	LIFR	HP:0002983	Micromelia	HP:0040281	ORPHA:3206
3977	LIFR	HP:0000321	Square face	1/6	OMIM:601559
3977	LIFR	HP:0002980	Femoral bowing	6/6	OMIM:601559
3977	LIFR	HP:0000311	Round face	2/7	OMIM:615777
3977	LIFR	HP:0002987	Elbow flexion contracture	-	OMIM:601559
3977	LIFR	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
3977	LIFR	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:3206
3977	LIFR	HP:0001629	Ventricular septal defect	-	OMIM:259770
3977	LIFR	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
3977	LIFR	HP:0002970	Genu varum	-	OMIM:615777
3977	LIFR	HP:0000307	Pointed chin	1/2	OMIM:612394
3977	LIFR	HP:0000303	Mandibular prognathia	-	OMIM:131300
3977	LIFR	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
3977	LIFR	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
3977	LIFR	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:3206
3977	LIFR	HP:0000490	Deeply set eye	6/6	OMIM:601559
3977	LIFR	HP:0000463	Anteverted nares	6/6	OMIM:601559
3977	LIFR	HP:0000463	Anteverted nares	1/1	OMIM:612394
3977	LIFR	HP:0000470	Short neck	-	OMIM:601559
3977	LIFR	HP:0000470	Short neck	1/7	OMIM:615777
3977	LIFR	HP:0001769	Broad foot	HP:0040283	OMIM:615777
3977	LIFR	HP:0001763	Pes planus	1/7	OMIM:615777
3977	LIFR	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
3977	LIFR	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:3206
3977	LIFR	HP:0000518	Cataract	1/5	OMIM:259770
3977	LIFR	HP:0000518	Cataract	1/1	OMIM:612394
3977	LIFR	HP:0001840	Metatarsus adductus	-	OMIM:615777
3977	LIFR	HP:0000520	Proptosis	2/4	OMIM:131300
3977	LIFR	HP:0000520	Proptosis	7/7	OMIM:615777
3977	LIFR	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:3206
3977	LIFR	HP:0000592	Blue sclerae	2/7	OMIM:615777
3977	LIFR	HP:0000586	Shallow orbits	1/1	OMIM:612394
3977	LIFR	HP:0000568	Microphthalmia	1/5	OMIM:259770
3977	LIFR	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
3977	LIFR	HP:0001883	Talipes	-	OMIM:601559
3977	LIFR	HP:0012514	Lower limb pain	4/4	OMIM:131300
3977	LIFR	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
3977	LIFR	HP:0000545	Myopia	1/1	OMIM:612394
3978	LIG1	HP:0001270	Motor delay	1/1	OMIM:619774
3978	LIG1	HP:0001249	Intellectual disability	0/5	OMIM:619774
3978	LIG1	HP:0500270	Increased gamma-delta T cell proportion	4/4	OMIM:619774
3978	LIG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619774
3978	LIG1	HP:0000003	Multicystic kidney dysplasia	2/5	OMIM:619774
3978	LIG1	HP:0002783	Recurrent lower respiratory tract infections	1/1	OMIM:619774
3978	LIG1	HP:0002719	Recurrent infections	5/5	OMIM:619774
3978	LIG1	HP:0002720	Decreased circulating IgA concentration	6/6	OMIM:619774
3978	LIG1	HP:0003593	Infantile onset	2/5	OMIM:619774
3978	LIG1	HP:0005518	Increased mean corpuscular volume	5/5	OMIM:619774
3978	LIG1	HP:0004315	Decreased circulating IgG concentration	6/6	OMIM:619774
3978	LIG1	HP:0011463	Childhood onset	3/5	OMIM:619774
3978	LIG1	HP:0000964	Eczematoid dermatitis	1/5	OMIM:619774
3978	LIG1	HP:0002850	Decreased circulating total IgM	5/5	OMIM:619774
3978	LIG1	HP:0031379	Abnormal T cell proliferation	1/1	OMIM:619774
3978	LIG1	HP:0001510	Growth delay	1/1	OMIM:619774
3978	LIG1	HP:0000403	Recurrent otitis media	1/1	OMIM:619774
3978	LIG1	HP:0000524	Conjunctival telangiectasia	1/1	OMIM:619774
3980	LIG3	HP:0001155	Abnormality of the hand	HP:0040282	ORPHA:298
3980	LIG3	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:298
3980	LIG3	HP:0025149	Atrophic muscularis propria	HP:0040281	ORPHA:298
3980	LIG3	HP:0007256	Abnormal pyramidal sign	3/7	OMIM:619780
3980	LIG3	HP:0002401	Stroke-like episode	2/7	OMIM:619780
3980	LIG3	HP:0001272	Cerebellar atrophy	4/7	OMIM:619780
3980	LIG3	HP:0001268	Mental deterioration	2/7	OMIM:619780
3980	LIG3	HP:0002579	Gastrointestinal dysmotility	HP:0040281	ORPHA:298
3980	LIG3	HP:0001249	Intellectual disability	HP:0040283	ORPHA:298
3980	LIG3	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:298
3980	LIG3	HP:0001394	Cirrhosis	HP:0040283	ORPHA:298
3980	LIG3	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:298
3980	LIG3	HP:0033725	Thin corpus callosum	1/7	OMIM:619780
3980	LIG3	HP:0000011	Neurogenic bladder	4/7	OMIM:619780
3980	LIG3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619780
3980	LIG3	HP:0001336	Myoclonus	2/7	OMIM:619780
3980	LIG3	HP:0001310	Dysmetria	1/7	OMIM:619780
3980	LIG3	HP:0025461	Abnormal cell morphology	HP:0040283	ORPHA:298
3980	LIG3	HP:0012103	Abnormality of the mitochondrion	HP:0040282	ORPHA:298
3980	LIG3	HP:0001403	Macrovesicular hepatic steatosis	HP:0040283	ORPHA:298
3980	LIG3	HP:0002719	Recurrent infections	2/7	OMIM:619780
3980	LIG3	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:298
3980	LIG3	HP:0002018	Nausea	HP:0040281	ORPHA:298
3980	LIG3	HP:0003348	Hyperalaninemia	HP:0040282	ORPHA:298
3980	LIG3	HP:0002027	Abdominal pain	HP:0040281	ORPHA:298
3980	LIG3	HP:0002014	Diarrhea	HP:0040282	ORPHA:298
3980	LIG3	HP:0002015	Dysphagia	HP:0040281	ORPHA:298
3980	LIG3	HP:0002015	Dysphagia	1/7	OMIM:619780
3980	LIG3	HP:0002013	Vomiting	HP:0040281	ORPHA:298
3980	LIG3	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	HP:0040282	ORPHA:298
3980	LIG3	HP:0003388	Easy fatigability	HP:0040282	ORPHA:298
3980	LIG3	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:298
3980	LIG3	HP:0003448	Decreased sensory nerve conduction velocity	HP:0040282	ORPHA:298
3980	LIG3	HP:0003431	Decreased motor nerve conduction velocity	HP:0040282	ORPHA:298
3980	LIG3	HP:0003401	Paresthesia	HP:0040282	ORPHA:298
3980	LIG3	HP:0003689	Multiple mitochondrial DNA deletions	3/3	OMIM:619780
3980	LIG3	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:298
3980	LIG3	HP:0002315	Headache	5/5	OMIM:619780
3980	LIG3	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:298
3980	LIG3	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:298
3980	LIG3	HP:0007108	Demyelinating peripheral neuropathy	HP:0040282	ORPHA:298
3980	LIG3	HP:0003621	Juvenile onset	3/7	OMIM:619780
3980	LIG3	HP:0000608	Macular degeneration	3/7	OMIM:619780
3980	LIG3	HP:0001903	Anemia	HP:0040283	ORPHA:298
3980	LIG3	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:298
3980	LIG3	HP:0006994	Diffuse leukoencephalopathy	6/7	OMIM:619780
3980	LIG3	HP:0004326	Cachexia	HP:0040281	ORPHA:298
3980	LIG3	HP:0004305	Involuntary movements	2/7	OMIM:619780
3980	LIG3	HP:0004389	Intestinal pseudo-obstruction	7/7	OMIM:619780
3980	LIG3	HP:0004396	Poor appetite	HP:0040281	ORPHA:298
3980	LIG3	HP:0000726	Dementia	HP:0040284	ORPHA:298
3980	LIG3	HP:0011463	Childhood onset	2/7	OMIM:619780
3980	LIG3	HP:0003199	Decreased muscle mass	HP:0040283	ORPHA:298
3980	LIG3	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:298
3980	LIG3	HP:0012850	Small intestinal dysmotility	HP:0040281	ORPHA:298
3980	LIG3	HP:0000815	Hypergonadotropic hypogonadism	HP:0040283	ORPHA:298
3980	LIG3	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:298
3980	LIG3	HP:0003270	Abdominal distention	HP:0040281	ORPHA:298
3980	LIG3	HP:0008049	Abnormality of the extraocular muscles	HP:0040282	ORPHA:298
3980	LIG3	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:298
3980	LIG3	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:298
3980	LIG3	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040282	ORPHA:298
3980	LIG3	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:298
3980	LIG3	HP:0025708	Early young adult onset	2/7	OMIM:619780
3980	LIG3	HP:0000518	Cataract	1/7	OMIM:619780
3980	LIG3	HP:0001824	Weight loss	HP:0040282	ORPHA:298
3980	LIG3	HP:0000508	Ptosis	HP:0040282	ORPHA:298
3980	LIG3	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:298
3980	LIG3	HP:0000544	External ophthalmoplegia	HP:0040281	ORPHA:298
3981	LIG4	HP:0002488	Acute leukemia	HP:0040282	ORPHA:99812
3981	LIG4	HP:0001156	Brachydactyly	HP:0040283	ORPHA:235
3981	LIG4	HP:0003765	Psoriasiform dermatitis	1/4	OMIM:606593
3981	LIG4	HP:0009891	Underdeveloped supraorbital ridges	HP:0040281	ORPHA:235
3981	LIG4	HP:0100806	Sepsis	HP:0040283	ORPHA:39041
3981	LIG4	HP:0001250	Seizure	HP:0040283	ORPHA:235
3981	LIG4	HP:0001252	Hypotonia	HP:0040283	ORPHA:235
3981	LIG4	HP:0001249	Intellectual disability	HP:0040282	ORPHA:99812
3981	LIG4	HP:0001249	Intellectual disability	HP:0040281	ORPHA:235
3981	LIG4	HP:0001263	Global developmental delay	HP:0040281	ORPHA:99812
3981	LIG4	HP:0001263	Global developmental delay	1/1	OMIM:606593
3981	LIG4	HP:0001231	Abnormal fingernail morphology	HP:0040283	ORPHA:235
3981	LIG4	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:39041
3981	LIG4	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:99812
3981	LIG4	HP:0031047	Paraproteinemia	-	OMIM:254500
3981	LIG4	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:235
3981	LIG4	HP:0000055	Abnormal female external genitalia morphology	HP:0040282	ORPHA:235
3981	LIG4	HP:0000054	Micropenis	1/1	OMIM:606593
3981	LIG4	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:235
3981	LIG4	HP:0000047	Hypospadias	HP:0040282	ORPHA:235
3981	LIG4	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:235
3981	LIG4	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:99812
3981	LIG4	HP:0000028	Cryptorchidism	1/1	OMIM:606593
3981	LIG4	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:235
3981	LIG4	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:235
3981	LIG4	HP:0007549	Desquamation of skin soon after birth	HP:0040282	ORPHA:39041
3981	LIG4	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:235
3981	LIG4	HP:0002664	Neoplasm	HP:0040284	ORPHA:235
3981	LIG4	HP:0001328	Specific learning disability	HP:0040283	ORPHA:235
3981	LIG4	HP:0000007	Autosomal recessive inheritance	-	OMIM:606593
3981	LIG4	HP:0002665	Lymphoma	HP:0040284	ORPHA:235
3981	LIG4	HP:0002665	Lymphoma	HP:0040282	ORPHA:99812
3981	LIG4	HP:0002665	Lymphoma	HP:0040283	ORPHA:39041
3981	LIG4	HP:0002650	Scoliosis	HP:0040283	ORPHA:235
3981	LIG4	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:235
3981	LIG4	HP:0000176	Submucous cleft hard palate	HP:0040282	ORPHA:235
3981	LIG4	HP:0000141	Amenorrhea	-	OMIM:606593
3981	LIG4	HP:0000154	Wide mouth	HP:0040284	ORPHA:235
3981	LIG4	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:235
3981	LIG4	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:39041
3981	LIG4	HP:0001442	Typified by somatic mosaicism	-	OMIM:254500
3981	LIG4	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:235
3981	LIG4	HP:0002719	Recurrent infections	HP:0040282	ORPHA:235
3981	LIG4	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:99812
3981	LIG4	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:39041
3981	LIG4	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:99812
3981	LIG4	HP:0002025	Anal stenosis	HP:0040283	ORPHA:235
3981	LIG4	HP:0002024	Malabsorption	HP:0040283	ORPHA:99812
3981	LIG4	HP:0002024	Malabsorption	HP:0040283	ORPHA:235
3981	LIG4	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:235
3981	LIG4	HP:0002019	Constipation	HP:0040283	ORPHA:235
3981	LIG4	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:235
3981	LIG4	HP:0002028	Chronic diarrhea	HP:0040283	ORPHA:235
3981	LIG4	HP:0002028	Chronic diarrhea	HP:0040281	ORPHA:39041
3981	LIG4	HP:0002013	Vomiting	HP:0040283	ORPHA:235
3981	LIG4	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:99812
3981	LIG4	HP:0005978	Type II diabetes mellitus	1/4	OMIM:606593
3981	LIG4	HP:0002099	Asthma	1/1	OMIM:606593
3981	LIG4	HP:0002099	Asthma	HP:0040283	ORPHA:235
3981	LIG4	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:235
3981	LIG4	HP:0002090	Pneumonia	HP:0040282	ORPHA:39041
3981	LIG4	HP:0100585	Telangiectasia of the skin	HP:0040283	ORPHA:99812
3981	LIG4	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040281	ORPHA:235
3981	LIG4	HP:0009602	Abnormality of thumb phalanx	HP:0040281	ORPHA:235
3981	LIG4	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:39041
3981	LIG4	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:99812
3981	LIG4	HP:0003581	Adult onset	-	OMIM:254500
3981	LIG4	HP:0002213	Fine hair	HP:0040282	ORPHA:235
3981	LIG4	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:235
3981	LIG4	HP:0002205	Recurrent respiratory infections	1/4	OMIM:606593
3981	LIG4	HP:0009738	Abnormal antihelix morphology	HP:0040282	ORPHA:235
3981	LIG4	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:235
3981	LIG4	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:235
3981	LIG4	HP:0001009	Telangiectasia	1/4	OMIM:606593
3981	LIG4	HP:0001019	Erythroderma	HP:0040281	ORPHA:39041
3981	LIG4	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:235
3981	LIG4	HP:0100646	Thyroiditis	HP:0040283	ORPHA:39041
3981	LIG4	HP:0001072	Thickened skin	HP:0040282	ORPHA:39041
3981	LIG4	HP:0200055	Small hand	HP:0040282	ORPHA:235
3981	LIG4	HP:0010783	Erythema	HP:0040282	ORPHA:99812
3981	LIG4	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:235
3981	LIG4	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:99812
3981	LIG4	HP:0004209	Clinodactyly of the 5th finger	1/1	OMIM:606593
3981	LIG4	HP:0005561	Abnormal bone marrow cell morphology	HP:0040282	ORPHA:99812
3981	LIG4	HP:0000639	Nystagmus	HP:0040283	ORPHA:235
3981	LIG4	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:99812
3981	LIG4	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:39041
3981	LIG4	HP:0000613	Photophobia	HP:0040283	ORPHA:235
3981	LIG4	HP:0000612	Iris coloboma	HP:0040284	ORPHA:235
3981	LIG4	HP:0001945	Fever	HP:0040282	ORPHA:39041
3981	LIG4	HP:0000601	Hypotelorism	-	OMIM:606593
3981	LIG4	HP:0001903	Anemia	HP:0040283	ORPHA:235
3981	LIG4	HP:0001903	Anemia	HP:0040283	ORPHA:39041
3981	LIG4	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:235
3981	LIG4	HP:0000678	Dental crowding	HP:0040283	ORPHA:235
3981	LIG4	HP:0011304	Broad thumb	HP:0040281	ORPHA:235
3981	LIG4	HP:0004322	Short stature	HP:0040281	ORPHA:235
3981	LIG4	HP:0004332	Abnormal lymphocyte morphology	HP:0040281	ORPHA:39041
3981	LIG4	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:235
3981	LIG4	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:235
3981	LIG4	HP:0000736	Short attention span	HP:0040283	ORPHA:235
3981	LIG4	HP:0000750	Delayed speech and language development	-	OMIM:606593
3981	LIG4	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:235
3981	LIG4	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:235
3981	LIG4	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:99812
3981	LIG4	HP:0004430	Severe combined immunodeficiency	HP:0040282	ORPHA:99812
3981	LIG4	HP:0004430	Severe combined immunodeficiency	HP:0040281	ORPHA:39041
3981	LIG4	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:99812
3981	LIG4	HP:5200060	Auditory hypersensitivity	HP:0040283	ORPHA:235
3981	LIG4	HP:0000829	Hypoparathyroidism	HP:0040283	ORPHA:235
3981	LIG4	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:99812
3981	LIG4	HP:0000821	Hypothyroidism	2/4	OMIM:606593
3981	LIG4	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:39041
3981	LIG4	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040284	ORPHA:235
3981	LIG4	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:99812
3981	LIG4	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:235
3981	LIG4	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:99812
3981	LIG4	HP:0000992	Cutaneous photosensitivity	2/4	OMIM:606593
3981	LIG4	HP:0000989	Pruritus	HP:0040282	ORPHA:39041
3981	LIG4	HP:0033005	Plantar warts	1/4	OMIM:606593
3981	LIG4	HP:0000958	Dry skin	HP:0040283	ORPHA:235
3981	LIG4	HP:0000958	Dry skin	HP:0040282	ORPHA:39041
3981	LIG4	HP:0000969	Edema	HP:0040282	ORPHA:39041
3981	LIG4	HP:0000965	Cutis marmorata	HP:0040283	ORPHA:235
3981	LIG4	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:235
3981	LIG4	HP:0000960	Sacral dimple	HP:0040283	ORPHA:235
3981	LIG4	HP:0000944	Abnormal metaphysis morphology	HP:0040283	ORPHA:39041
3981	LIG4	HP:0000286	Epicanthus	HP:0040282	ORPHA:99812
3981	LIG4	HP:0000286	Epicanthus	1/1	OMIM:606593
3981	LIG4	HP:0000286	Epicanthus	HP:0040282	ORPHA:235
3981	LIG4	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:99812
3981	LIG4	HP:0000294	Low anterior hairline	1/1	OMIM:606593
3981	LIG4	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:235
3981	LIG4	HP:0001596	Alopecia	HP:0040281	ORPHA:39041
3981	LIG4	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:235
3981	LIG4	HP:0000275	Narrow face	HP:0040282	ORPHA:235
3981	LIG4	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:235
3981	LIG4	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:235
3981	LIG4	HP:0000252	Microcephaly	HP:0040281	ORPHA:99812
3981	LIG4	HP:0000252	Microcephaly	HP:0040281	ORPHA:235
3981	LIG4	HP:0000252	Microcephaly	5/5	OMIM:606593
3981	LIG4	HP:0000248	Brachycephaly	HP:0040282	ORPHA:99812
3981	LIG4	HP:0000248	Brachycephaly	1/1	OMIM:606593
3981	LIG4	HP:0000218	High palate	HP:0040283	ORPHA:235
3981	LIG4	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:99812
3981	LIG4	HP:0002863	Myelodysplasia	-	OMIM:606593
3981	LIG4	HP:0001508	Failure to thrive	-	OMIM:606593
3981	LIG4	HP:0001508	Failure to thrive	HP:0040282	ORPHA:235
3981	LIG4	HP:0001508	Failure to thrive	HP:0040281	ORPHA:39041
3981	LIG4	HP:0001518	Small for gestational age	1/1	OMIM:606593
3981	LIG4	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:235
3981	LIG4	HP:0001510	Growth delay	HP:0040281	ORPHA:99812
3981	LIG4	HP:0011034	Amyloidosis	-	OMIM:254500
3981	LIG4	HP:0001609	Hoarse voice	HP:0040282	ORPHA:235
3981	LIG4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:235
3981	LIG4	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:235
3981	LIG4	HP:0000341	Narrow forehead	1/1	OMIM:606593
3981	LIG4	HP:0000340	Sloping forehead	HP:0040282	ORPHA:235
3981	LIG4	HP:0000347	Micrognathia	HP:0040282	ORPHA:99812
3981	LIG4	HP:0000347	Micrognathia	HP:0040282	ORPHA:235
3981	LIG4	HP:0000320	Bird-like facies	HP:0040281	ORPHA:99812
3981	LIG4	HP:0000316	Hypertelorism	HP:0040281	ORPHA:235
3981	LIG4	HP:0002960	Autoimmunity	HP:0040283	ORPHA:39041
3981	LIG4	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:235
3981	LIG4	HP:0001620	Abnormally high-pitched voice	HP:0040282	ORPHA:235
3981	LIG4	HP:0005338	Sparse lateral eyebrow	HP:0040282	ORPHA:235
3981	LIG4	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:235
3981	LIG4	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:235
3981	LIG4	HP:0000483	Astigmatism	1/1	OMIM:606593
3981	LIG4	HP:0000486	Strabismus	HP:0040283	ORPHA:235
3981	LIG4	HP:0000485	Megalocornea	HP:0040284	ORPHA:235
3981	LIG4	HP:0011109	Chronic sinusitis	1/4	OMIM:606593
3981	LIG4	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:235
3981	LIG4	HP:0001773	Short foot	HP:0040282	ORPHA:235
3981	LIG4	HP:0000448	Prominent nose	1/1	OMIM:606593
3981	LIG4	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:99812
3981	LIG4	HP:0000411	Protruding ear	HP:0040282	ORPHA:235
3981	LIG4	HP:0001744	Splenomegaly	HP:0040282	ORPHA:39041
3981	LIG4	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:99812
3981	LIG4	HP:0000431	Wide nasal bridge	1/1	OMIM:606593
3981	LIG4	HP:0006721	Acute lymphoblastic leukemia	HP:0040284	ORPHA:235
3981	LIG4	HP:0006721	Acute lymphoblastic leukemia	1/1	OMIM:606593
3981	LIG4	HP:0006775	Multiple myeloma	-	OMIM:254500
3981	LIG4	HP:0000518	Cataract	HP:0040283	ORPHA:235
3981	LIG4	HP:0001840	Metatarsus adductus	HP:0040283	ORPHA:235
3981	LIG4	HP:0001852	Sandal gap	HP:0040282	ORPHA:235
3981	LIG4	HP:0000506	Telecanthus	HP:0040282	ORPHA:99812
3981	LIG4	HP:0000506	Telecanthus	HP:0040281	ORPHA:235
3981	LIG4	HP:0000508	Ptosis	HP:0040282	ORPHA:235
3981	LIG4	HP:0001831	Short toe	HP:0040283	ORPHA:39041
3981	LIG4	HP:0001800	Hypoplastic toenails	HP:0040283	ORPHA:235
3981	LIG4	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:99812
3981	LIG4	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:606593
3981	LIG4	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:235
3981	LIG4	HP:0000568	Microphthalmia	HP:0040284	ORPHA:235
3981	LIG4	HP:0001880	Increased total eosinophil count	HP:0040282	ORPHA:39041
3981	LIG4	HP:0001874	Abnormality of neutrophils	HP:0040283	ORPHA:235
3981	LIG4	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:235
3981	LIG4	HP:0001873	Thrombocytopenia	-	OMIM:606593
3981	LIG4	HP:0001876	Pancytopenia	HP:0040282	ORPHA:99812
3981	LIG4	HP:0001876	Pancytopenia	3/4	OMIM:606593
3981	LIG4	HP:0000545	Myopia	HP:0040283	ORPHA:235
3982	LIM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615277
3982	LIM2	HP:0000639	Nystagmus	-	OMIM:615277
3982	LIM2	HP:0000646	Amblyopia	-	OMIM:615277
3982	LIM2	HP:0007780	Cortical pulverulent cataract	-	OMIM:615277
3984	LIMK1	HP:0001181	Adducted thumb	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:904
3984	LIMK1	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001297	Stroke	HP:0040282	ORPHA:904
3984	LIMK1	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:904
3984	LIMK1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:904
3984	LIMK1	HP:0001252	Hypotonia	HP:0040282	ORPHA:904
3984	LIMK1	HP:0001251	Ataxia	HP:0040281	ORPHA:904
3984	LIMK1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:904
3984	LIMK1	HP:0001260	Dysarthria	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001257	Spasticity	HP:0040282	ORPHA:904
3984	LIMK1	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:904
3984	LIMK1	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:904
3984	LIMK1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:904
3984	LIMK1	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040283	ORPHA:904
3984	LIMK1	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000093	Proteinuria	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000075	Renal duplication	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001387	Joint stiffness	HP:0040282	ORPHA:904
3984	LIMK1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000014	Abnormality of the bladder	HP:0040282	ORPHA:904
3984	LIMK1	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:904
3984	LIMK1	HP:0001361	Nystagmus-induced head nodding	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000025	Functional abnormality of male internal genitalia	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:904
3984	LIMK1	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:904
3984	LIMK1	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001337	Tremor	HP:0040281	ORPHA:904
3984	LIMK1	HP:0001310	Dysmetria	HP:0040281	ORPHA:904
3984	LIMK1	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:904
3984	LIMK1	HP:0002650	Scoliosis	HP:0040283	ORPHA:904
3984	LIMK1	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:904
3984	LIMK1	HP:0002623	Overriding aorta	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:904
3984	LIMK1	HP:0000158	Macroglossia	HP:0040281	ORPHA:904
3984	LIMK1	HP:0000154	Wide mouth	HP:0040281	ORPHA:904
3984	LIMK1	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000125	Pelvic kidney	HP:0040282	ORPHA:904
3984	LIMK1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:904
3984	LIMK1	HP:0002024	Malabsorption	HP:0040283	ORPHA:904
3984	LIMK1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:904
3984	LIMK1	HP:0002019	Constipation	HP:0040282	ORPHA:904
3984	LIMK1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:904
3984	LIMK1	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:904
3984	LIMK1	HP:0002027	Abdominal pain	HP:0040281	ORPHA:904
3984	LIMK1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:904
3984	LIMK1	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:904
3984	LIMK1	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:904
3984	LIMK1	HP:0100539	Periorbital edema	HP:0040281	ORPHA:904
3984	LIMK1	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:904
3984	LIMK1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:904
3984	LIMK1	HP:0002141	Gait imbalance	HP:0040281	ORPHA:904
3984	LIMK1	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:904
3984	LIMK1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:904
3984	LIMK1	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:904
3984	LIMK1	HP:0002183	Phonophobia	HP:0040281	ORPHA:904
3984	LIMK1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:904
3984	LIMK1	HP:0010526	Dysgraphia	HP:0040281	ORPHA:904
3984	LIMK1	HP:0002253	Colonic diverticula	HP:0040282	ORPHA:904
3984	LIMK1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:904
3984	LIMK1	HP:0100785	Insomnia	HP:0040282	ORPHA:904
3984	LIMK1	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:904
3984	LIMK1	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:904
3984	LIMK1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:904
3984	LIMK1	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:904
3984	LIMK1	HP:0002376	Developmental regression	HP:0040283	ORPHA:904
3984	LIMK1	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:904
3984	LIMK1	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:904
3984	LIMK1	HP:0010807	Open bite	HP:0040281	ORPHA:904
3984	LIMK1	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:904
3984	LIMK1	HP:0008499	High hypermetropia	HP:0040281	ORPHA:904
3984	LIMK1	HP:0010780	Hyperacusis	HP:0040281	ORPHA:904
3984	LIMK1	HP:0002308	Chiari malformation	HP:0040283	ORPHA:904
3984	LIMK1	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:904
3984	LIMK1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:904
3984	LIMK1	HP:0004295	Abnormal gastric mucosa morphology	HP:0040283	ORPHA:904
3984	LIMK1	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000635	Blue irides	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000691	Microdontia	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000670	Carious teeth	HP:0040283	ORPHA:904
3984	LIMK1	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:904
3984	LIMK1	HP:0000668	Hypodontia	HP:0040282	ORPHA:904
3984	LIMK1	HP:0004322	Short stature	HP:0040281	ORPHA:904
3984	LIMK1	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:904
3984	LIMK1	HP:0004305	Involuntary movements	HP:0040281	ORPHA:904
3984	LIMK1	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:904
3984	LIMK1	HP:0004381	Supravalvular aortic stenosis	HP:0040282	ORPHA:904
3984	LIMK1	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:904
3984	LIMK1	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:904
3984	LIMK1	HP:0100025	Overfriendliness	HP:0040281	ORPHA:904
3984	LIMK1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000739	Anxiety	HP:0040281	ORPHA:904
3984	LIMK1	HP:0000716	Depression	HP:0040281	ORPHA:904
3984	LIMK1	HP:0000717	Autism	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:904
3984	LIMK1	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:904
3984	LIMK1	HP:0004428	Elfin facies	HP:0040281	ORPHA:904
3984	LIMK1	HP:0003198	Myopathy	HP:0040283	ORPHA:904
3984	LIMK1	HP:0003196	Short nose	HP:0040281	ORPHA:904
3984	LIMK1	HP:0000826	Precocious puberty	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000822	Hypertension	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:904
3984	LIMK1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:904
3984	LIMK1	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000960	Sacral dimple	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000938	Osteopenia	HP:0040283	ORPHA:904
3984	LIMK1	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:904
3984	LIMK1	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:904
3984	LIMK1	HP:0007720	Flat cornea	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000286	Epicanthus	HP:0040281	ORPHA:904
3984	LIMK1	HP:0000280	Coarse facial features	HP:0040281	ORPHA:904
3984	LIMK1	HP:0000275	Narrow face	HP:0040281	ORPHA:904
3984	LIMK1	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:904
3984	LIMK1	HP:0002829	Arthralgia	HP:0040282	ORPHA:904
3984	LIMK1	HP:0002808	Kyphosis	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000252	Microcephaly	HP:0040282	ORPHA:904
3984	LIMK1	HP:0001582	Redundant skin	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:904
3984	LIMK1	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:904
3984	LIMK1	HP:0002857	Genu valgum	HP:0040282	ORPHA:904
3984	LIMK1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001513	Obesity	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:904
3984	LIMK1	HP:0001609	Hoarse voice	HP:0040281	ORPHA:904
3984	LIMK1	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:904
3984	LIMK1	HP:0001618	Dysphonia	HP:0040283	ORPHA:904
3984	LIMK1	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:904
3984	LIMK1	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000343	Long philtrum	HP:0040281	ORPHA:904
3984	LIMK1	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000337	Broad forehead	HP:0040281	ORPHA:904
3984	LIMK1	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000348	High forehead	HP:0040281	ORPHA:904
3984	LIMK1	HP:0000347	Micrognathia	HP:0040281	ORPHA:904
3984	LIMK1	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:904
3984	LIMK1	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:904
3984	LIMK1	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:904
3984	LIMK1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:904
3984	LIMK1	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000307	Pointed chin	HP:0040281	ORPHA:904
3984	LIMK1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:904
3984	LIMK1	HP:0007957	Corneal opacity	HP:0040283	ORPHA:904
3984	LIMK1	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000400	Macrotia	HP:0040281	ORPHA:904
3984	LIMK1	HP:0000486	Strabismus	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000485	Megalocornea	HP:0040283	ORPHA:904
3984	LIMK1	HP:0000464	Abnormality of the neck	HP:0040281	ORPHA:904
3984	LIMK1	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:904
3984	LIMK1	HP:0001763	Pes planus	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000411	Protruding ear	HP:0040281	ORPHA:904
3984	LIMK1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:904
3984	LIMK1	HP:0000518	Cataract	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001822	Hallux valgus	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000505	Visual impairment	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000501	Glaucoma	HP:0040283	ORPHA:904
3984	LIMK1	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:904
3984	LIMK1	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:904
3984	LIMK1	HP:0000545	Myopia	HP:0040283	ORPHA:904
3988	LIPA	HP:0001263	Global developmental delay	HP:0040281	ORPHA:75233
3988	LIPA	HP:0002570	Steatorrhea	HP:0040281	ORPHA:75233
3988	LIPA	HP:0002570	Steatorrhea	-	OMIM:278000
3988	LIPA	HP:0001397	Hepatic steatosis	3/3	OMIM:278000
3988	LIPA	HP:0001399	Hepatic failure	1/1	OMIM:278000
3988	LIPA	HP:0001399	Hepatic failure	HP:0040281	ORPHA:75233
3988	LIPA	HP:0001399	Hepatic failure	HP:0040282	ORPHA:75234
3988	LIPA	HP:0001395	Hepatic fibrosis	3/4	OMIM:278000
3988	LIPA	HP:0001394	Cirrhosis	2/5	OMIM:278000
3988	LIPA	HP:0001394	Cirrhosis	HP:0040283	ORPHA:75234
3988	LIPA	HP:0000007	Autosomal recessive inheritance	-	OMIM:278000
3988	LIPA	HP:0000007	Autosomal recessive inheritance	-	OMIM:620151
3988	LIPA	HP:0002634	Arteriosclerosis	HP:0040282	ORPHA:75234
3988	LIPA	HP:0031141	Increased hepatic echogenicity	1/1	OMIM:278000
3988	LIPA	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/4	OMIM:278000
3988	LIPA	HP:0031205	Reduced lysosomal acid lipase activity	7/7	OMIM:278000
3988	LIPA	HP:0031205	Reduced lysosomal acid lipase activity	2/2	OMIM:620151
3988	LIPA	HP:0001433	Hepatosplenomegaly	1/1	OMIM:278000
3988	LIPA	HP:0001409	Portal hypertension	1/1	OMIM:278000
3988	LIPA	HP:0001405	Periportal fibrosis	1/4	OMIM:278000
3988	LIPA	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:75233
3988	LIPA	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:75234
3988	LIPA	HP:0002014	Diarrhea	1/4	OMIM:278000
3988	LIPA	HP:0002014	Diarrhea	HP:0040282	ORPHA:75234
3988	LIPA	HP:0002013	Vomiting	1/1	OMIM:620151
3988	LIPA	HP:0002013	Vomiting	1/4	OMIM:278000
3988	LIPA	HP:0030948	Elevated gamma-glutamyltransferase level	1/4	OMIM:278000
3988	LIPA	HP:0002040	Esophageal varix	HP:0040283	ORPHA:75233
3988	LIPA	HP:0002040	Esophageal varix	1/1	OMIM:278000
3988	LIPA	HP:0002040	Esophageal varix	HP:0040283	ORPHA:75234
3988	LIPA	HP:0002155	Hypertriglyceridemia	4/6	OMIM:278000
3988	LIPA	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:75234
3988	LIPA	HP:0010512	Adrenal calcification	2/6	OMIM:278000
3988	LIPA	HP:0010512	Adrenal calcification	HP:0040281	ORPHA:75233
3988	LIPA	HP:0010512	Adrenal calcification	HP:0040283	ORPHA:75234
3988	LIPA	HP:0010512	Adrenal calcification	3/3	OMIM:620151
3988	LIPA	HP:0003593	Infantile onset	3/3	OMIM:620151
3988	LIPA	HP:0003593	Infantile onset	4/6	OMIM:278000
3988	LIPA	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:75233
3988	LIPA	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:75234
3988	LIPA	HP:0002240	Hepatomegaly	3/3	OMIM:620151
3988	LIPA	HP:0002240	Hepatomegaly	6/6	OMIM:278000
3988	LIPA	HP:0003621	Juvenile onset	2/4	OMIM:278000
3988	LIPA	HP:0005521	Disseminated intravascular coagulation	1/1	OMIM:278000
3988	LIPA	HP:0034029	Hepatic foam cells	1/4	OMIM:278000
3988	LIPA	HP:0001971	Hypersplenism	1/1	OMIM:278000
3988	LIPA	HP:0001945	Fever	HP:0040283	ORPHA:75233
3988	LIPA	HP:0001945	Fever	1/1	OMIM:620151
3988	LIPA	HP:0001903	Anemia	HP:0040282	ORPHA:75233
3988	LIPA	HP:0001903	Anemia	1/1	OMIM:278000
3988	LIPA	HP:0031956	Elevated circulating aspartate aminotransferase concentration	4/5	OMIM:278000
3988	LIPA	HP:0004333	Bone-marrow foam cells	-	OMIM:278000
3988	LIPA	HP:0004333	Bone-marrow foam cells	HP:0040283	ORPHA:75233
3988	LIPA	HP:0004326	Cachexia	HP:0040282	ORPHA:75233
3988	LIPA	HP:0031964	Elevated circulating alanine aminotransferase concentration	5/5	OMIM:278000
3988	LIPA	HP:0004395	Malnutrition	HP:0040282	ORPHA:75233
3988	LIPA	HP:0003124	Hypercholesterolemia	5/6	OMIM:278000
3988	LIPA	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:75234
3988	LIPA	HP:0003141	Increased LDL cholesterol concentration	1/1	OMIM:278000
3988	LIPA	HP:0012852	Hepatic bridging fibrosis	1/4	OMIM:278000
3988	LIPA	HP:0000846	Adrenal insufficiency	HP:0040283	ORPHA:75233
3988	LIPA	HP:0000846	Adrenal insufficiency	1/1	OMIM:278000
3988	LIPA	HP:0003233	Decreased HDL cholesterol concentration	1/1	OMIM:278000
3988	LIPA	HP:0003270	Abdominal distention	1/1	OMIM:620151
3988	LIPA	HP:0003270	Abdominal distention	HP:0040281	ORPHA:75233
3988	LIPA	HP:0003282	Decreased circulating alkaline phosphatase activity	1/4	OMIM:278000
3988	LIPA	HP:0000989	Pruritus	HP:0040283	ORPHA:75234
3988	LIPA	HP:0000952	Jaundice	HP:0040283	ORPHA:75234
3988	LIPA	HP:0001522	Death in infancy	3/3	OMIM:620151
3988	LIPA	HP:0001522	Death in infancy	-	OMIM:278000
3988	LIPA	HP:0001541	Ascites	HP:0040282	ORPHA:75233
3988	LIPA	HP:0001538	Protuberant abdomen	1/4	OMIM:278000
3988	LIPA	HP:0001508	Failure to thrive	3/3	OMIM:620151
3988	LIPA	HP:0001508	Failure to thrive	1/1	OMIM:278000
3988	LIPA	HP:0001510	Growth delay	HP:0040282	ORPHA:75233
3988	LIPA	HP:0006554	Acute hepatic failure	1/1	OMIM:278000
3988	LIPA	HP:0006554	Acute hepatic failure	1/1	OMIM:620151
3988	LIPA	HP:0001744	Splenomegaly	HP:0040282	ORPHA:75233
3988	LIPA	HP:0001744	Splenomegaly	HP:0040282	ORPHA:75234
3988	LIPA	HP:0001744	Splenomegaly	3/3	OMIM:620151
3988	LIPA	HP:0001744	Splenomegaly	2/2	OMIM:278000
3988	LIPA	HP:0001882	Decreased total leukocyte count	1/1	OMIM:278000
3988	LIPA	HP:0001873	Thrombocytopenia	1/1	OMIM:278000
3990	LIPC	HP:0000007	Autosomal recessive inheritance	-	OMIM:614025
3990	LIPC	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
3990	LIPC	HP:0012184	Increased HDL cholesterol concentration	1/1	OMIM:614025
3990	LIPC	HP:0012184	Increased HDL cholesterol concentration	HP:0040280	ORPHA:140905
3990	LIPC	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
3990	LIPC	HP:0002155	Hypertriglyceridemia	3/3	OMIM:614025
3990	LIPC	HP:0002155	Hypertriglyceridemia	HP:0040280	ORPHA:140905
3990	LIPC	HP:0003584	Late onset	-	OMIM:125853
3990	LIPC	HP:0001013	Eruptive xanthomas	1/3	OMIM:614025
3990	LIPC	HP:0001013	Eruptive xanthomas	HP:0040281	ORPHA:140905
3990	LIPC	HP:0001084	Corneal arcus	1/2	OMIM:614025
3990	LIPC	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
3990	LIPC	HP:0003124	Hypercholesterolemia	3/3	OMIM:614025
3990	LIPC	HP:0000855	Insulin resistance	-	OMIM:125853
3990	LIPC	HP:0005181	Premature coronary artery atherosclerosis	HP:0040282	ORPHA:140905
3990	LIPC	HP:0001681	Angina pectoris	1/2	OMIM:614025
3990	LIPC	HP:0001681	Angina pectoris	HP:0040282	ORPHA:140905
3991	LIPE	HP:0003701	Proximal muscle weakness	HP:0040283	OMIM:615980
3991	LIPE	HP:0003712	Skeletal muscle hypertrophy	HP:0040281	ORPHA:435660
3991	LIPE	HP:0007340	Lower limb muscle weakness	1/3	OMIM:615980
3991	LIPE	HP:0001397	Hepatic steatosis	HP:0040281	ORPHA:435660
3991	LIPE	HP:0001397	Hepatic steatosis	1/3	OMIM:615980
3991	LIPE	HP:0001324	Muscle weakness	1/3	OMIM:615980
3991	LIPE	HP:0000007	Autosomal recessive inheritance	-	OMIM:615980
3991	LIPE	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:435660
3991	LIPE	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:435660
3991	LIPE	HP:0008993	Increased intraabdominal fat	HP:0040281	ORPHA:435660
3991	LIPE	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040282	ORPHA:435660
3991	LIPE	HP:0002155	Hypertriglyceridemia	HP:0040281	ORPHA:435660
3991	LIPE	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:435660
3991	LIPE	HP:0003551	Difficulty climbing stairs	1/3	OMIM:615980
3991	LIPE	HP:0003560	Muscular dystrophy	HP:0040283	OMIM:615980
3991	LIPE	HP:0001010	Hypopigmentation of the skin	2/3	OMIM:615980
3991	LIPE	HP:0003635	Loss of subcutaneous adipose tissue in limbs	HP:0040280	ORPHA:435660
3991	LIPE	HP:0009017	Loss of gluteal subcutaneous adipose tissue	HP:0040281	ORPHA:435660
3991	LIPE	HP:0030685	Decreased adiponectin level	HP:0040281	ORPHA:435660
3991	LIPE	HP:0003077	Hyperlipidemia	1/3	OMIM:615980
3991	LIPE	HP:0012743	Abdominal obesity	-	OMIM:615980
3991	LIPE	HP:0011462	Young adult onset	3/3	OMIM:615980
3991	LIPE	HP:0009125	Lipodystrophy	HP:0040280	ORPHA:435660
3991	LIPE	HP:0009125	Lipodystrophy	2/3	OMIM:615980
3991	LIPE	HP:0003119	Abnormal circulating lipid concentration	-	OMIM:615980
3991	LIPE	HP:0003198	Myopathy	1/3	OMIM:615980
3991	LIPE	HP:0000876	Oligomenorrhea	HP:0040281	ORPHA:435660
3991	LIPE	HP:0000855	Insulin resistance	HP:0040280	ORPHA:435660
3991	LIPE	HP:0000855	Insulin resistance	-	OMIM:615980
3991	LIPE	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040281	ORPHA:435660
3991	LIPE	HP:0000819	Diabetes mellitus	-	OMIM:615980
3991	LIPE	HP:0000822	Hypertension	2/3	OMIM:615980
3991	LIPE	HP:0012881	Abnormal labia majora morphology	HP:0040281	ORPHA:435660
3991	LIPE	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:435660
3991	LIPE	HP:0003236	Elevated circulating creatine kinase concentration	1/3	OMIM:615980
3991	LIPE	HP:0003202	Skeletal muscle atrophy	3/3	OMIM:615980
3991	LIPE	HP:0003292	Decreased serum leptin	HP:0040281	ORPHA:435660
3991	LIPE	HP:0000956	Acanthosis nigricans	HP:0040281	ORPHA:435660
3991	LIPE	HP:0000956	Acanthosis nigricans	1/3	OMIM:615980
3991	LIPE	HP:0002938	Lumbar hyperlordosis	1/3	OMIM:615980
3991	LIPE	HP:0000468	Increased adipose tissue around the neck	HP:0040280	ORPHA:435660
3991	LIPE	HP:0001761	Pes cavus	3/3	OMIM:615980
3998	LMAN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:227300
3998	LMAN1	HP:0006298	Prolonged bleeding after dental extraction	HP:0040282	ORPHA:35909
3998	LMAN1	HP:0000132	Menorrhagia	HP:0040283	ORPHA:35909
3998	LMAN1	HP:0008151	Prolonged prothrombin time	HP:0040281	ORPHA:35909
3998	LMAN1	HP:0002149	Hyperuricemia	HP:0040284	ORPHA:35909
3998	LMAN1	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:35909
3998	LMAN1	HP:0011889	Bleeding with minor or no trauma	HP:0040282	ORPHA:35909
3998	LMAN1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:35909
3998	LMAN1	HP:0004846	Prolonged bleeding after surgery	HP:0040283	ORPHA:35909
3998	LMAN1	HP:0003645	Prolonged partial thromboplastin time	HP:0040281	ORPHA:35909
3998	LMAN1	HP:0003077	Hyperlipidemia	HP:0040284	ORPHA:35909
3998	LMAN1	HP:0000790	Hematuria	HP:0040283	ORPHA:35909
3998	LMAN1	HP:0003125	Reduced factor VIII activity	-	OMIM:227300
3998	LMAN1	HP:0003125	Reduced factor VIII activity	HP:0040281	ORPHA:35909
3998	LMAN1	HP:0003225	Reduced coagulation factor V activity	-	OMIM:227300
3998	LMAN1	HP:0003225	Reduced coagulation factor V activity	HP:0040281	ORPHA:35909
3998	LMAN1	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:35909
3998	LMAN1	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:35909
3998	LMAN1	HP:0005261	Joint hemorrhage	HP:0040283	ORPHA:35909
3998	LMAN1	HP:0030137	Prolonged bleeding following circumcision	HP:0040282	ORPHA:35909
3998	LMAN1	HP:0000421	Epistaxis	HP:0040282	ORPHA:35909
3998	LMAN1	HP:0001892	Abnormal bleeding	-	OMIM:227300
4000	LMNA	HP:0002486	Myotonia	1/6	OMIM:151660
4000	LMNA	HP:0002486	Myotonia	HP:0040281	ORPHA:98855
4000	LMNA	HP:0002486	Myotonia	HP:0040281	ORPHA:98853
4000	LMNA	HP:0001156	Brachydactyly	HP:0040283	ORPHA:168796
4000	LMNA	HP:0001156	Brachydactyly	6/14	OMIM:610140
4000	LMNA	HP:0025116	Fetal distress	1/2	OMIM:619793
4000	LMNA	HP:0001159	Syndactyly	-	OMIM:610140
4000	LMNA	HP:0002460	Distal muscle weakness	11/11	OMIM:613205
4000	LMNA	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:98856
4000	LMNA	HP:0002460	Distal muscle weakness	-	OMIM:605588
4000	LMNA	HP:0003777	Pili torti	HP:0040281	ORPHA:79474
4000	LMNA	HP:0008647	Pubertal developmental failure in females	HP:0040281	ORPHA:740
4000	LMNA	HP:0025169	Left ventricular systolic dysfunction	HP:0040284	ORPHA:740
4000	LMNA	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
4000	LMNA	HP:0025168	Left ventricular diastolic dysfunction	HP:0040282	ORPHA:740
4000	LMNA	HP:0001196	Short umbilical cord	HP:0040281	ORPHA:1662
4000	LMNA	HP:0009924	Aplasia/Hypoplasia involving the nose	HP:0040281	ORPHA:1662
4000	LMNA	HP:0009904	Prominent ear helix	HP:0040283	ORPHA:740
4000	LMNA	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:740
4000	LMNA	HP:0008573	Low-frequency sensorineural hearing impairment	HP:0040282	ORPHA:740
4000	LMNA	HP:0007249	Decreased number of small peripheral myelinated nerve fibers	HP:0040283	ORPHA:98856
4000	LMNA	HP:0007233	Clusters of axonal regeneration	-	ORPHA:98856
4000	LMNA	HP:0009882	Short distal phalanx of finger	1/1	OMIM:248370
4000	LMNA	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:90153
4000	LMNA	HP:0008551	Microtia	1/1	OMIM:212112
4000	LMNA	HP:0007210	Lower limb amyotrophy	7/41	OMIM:181350
4000	LMNA	HP:0002421	Poor head control	HP:0040281	ORPHA:157973
4000	LMNA	HP:0002421	Poor head control	15/15	OMIM:613205
4000	LMNA	HP:0003761	Calcinosis	1/1	OMIM:248370
4000	LMNA	HP:0003758	Reduced subcutaneous adipose tissue	HP:0040281	ORPHA:280365
4000	LMNA	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4000	LMNA	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:151660
4000	LMNA	HP:0003758	Reduced subcutaneous adipose tissue	9/9	OMIM:248370
4000	LMNA	HP:0003724	Shoulder girdle muscle atrophy	HP:0040283	ORPHA:98856
4000	LMNA	HP:0003738	Exercise-induced myalgia	3/3	OMIM:151660
4000	LMNA	HP:0003738	Exercise-induced myalgia	HP:0040283	ORPHA:79474
4000	LMNA	HP:0003707	Calf muscle pseudohypertrophy	3/41	OMIM:181350
4000	LMNA	HP:0003701	Proximal muscle weakness	15/15	OMIM:613205
4000	LMNA	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:98856
4000	LMNA	HP:0003701	Proximal muscle weakness	-	OMIM:605588
4000	LMNA	HP:0003700	Generalized amyotrophy	3/41	OMIM:181350
4000	LMNA	HP:0003700	Generalized amyotrophy	1/1	OMIM:616516
4000	LMNA	HP:0003700	Generalized amyotrophy	1/5	OMIM:613205
4000	LMNA	HP:0003717	Minimal subcutaneous fat	HP:0040281	ORPHA:280365
4000	LMNA	HP:0003712	Skeletal muscle hypertrophy	HP:0040281	ORPHA:280365
4000	LMNA	HP:0003712	Skeletal muscle hypertrophy	5/5	OMIM:151660
4000	LMNA	HP:0003712	Skeletal muscle hypertrophy	HP:0040281	ORPHA:2348
4000	LMNA	HP:0001297	Stroke	HP:0040283	ORPHA:740
4000	LMNA	HP:0001293	Cranial nerve compression	-	OMIM:131300
4000	LMNA	HP:0025258	Stiff neck	36/41	OMIM:181350
4000	LMNA	HP:0001270	Motor delay	-	OMIM:613205
4000	LMNA	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:2348
4000	LMNA	HP:0001288	Gait disturbance	18/18	OMIM:181350
4000	LMNA	HP:0001288	Gait disturbance	HP:0040282	ORPHA:157973
4000	LMNA	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98855
4000	LMNA	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98853
4000	LMNA	HP:0001288	Gait disturbance	1/1	OMIM:616516
4000	LMNA	HP:0001284	Areflexia	HP:0040282	ORPHA:98856
4000	LMNA	HP:0001284	Areflexia	-	OMIM:605588
4000	LMNA	HP:0100833	Neoplasm of the small intestine	HP:0040282	ORPHA:79474
4000	LMNA	HP:0001279	Syncope	HP:0040282	ORPHA:300751
4000	LMNA	HP:0001279	Syncope	1/1	OMIM:181350
4000	LMNA	HP:0001252	Hypotonia	HP:0040282	ORPHA:157973
4000	LMNA	HP:0001252	Hypotonia	HP:0040283	ORPHA:90153
4000	LMNA	HP:0001252	Hypotonia	21/21	OMIM:613205
4000	LMNA	HP:0001252	Hypotonia	HP:0040283	ORPHA:98855
4000	LMNA	HP:0001252	Hypotonia	HP:0040283	ORPHA:98853
4000	LMNA	HP:0001252	Hypotonia	2/7	OMIM:615777
4000	LMNA	HP:0001249	Intellectual disability	HP:0040283	OMIM:212112
4000	LMNA	HP:0001249	Intellectual disability	-	ORPHA:98855
4000	LMNA	HP:0001249	Intellectual disability	-	ORPHA:98853
4000	LMNA	HP:0001249	Intellectual disability	5/7	OMIM:615777
4000	LMNA	HP:0002597	Abnormality of the vasculature	HP:0040281	ORPHA:1662
4000	LMNA	HP:0001265	Hyporeflexia	-	OMIM:605588
4000	LMNA	HP:0001263	Global developmental delay	HP:0040282	ORPHA:157973
4000	LMNA	HP:0001263	Global developmental delay	-	OMIM:615777
4000	LMNA	HP:0001239	Wrist flexion contracture	3/41	OMIM:181350
4000	LMNA	HP:0007418	Alopecia totalis	HP:0040282	ORPHA:740
4000	LMNA	HP:0008739	Labial pseudohypertrophy	-	OMIM:151660
4000	LMNA	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:79474
4000	LMNA	HP:0007394	Prominent superficial blood vessels	HP:0040281	ORPHA:740
4000	LMNA	HP:0007394	Prominent superficial blood vessels	0/1	OMIM:151660
4000	LMNA	HP:0002540	Inability to walk	HP:0040283	ORPHA:98856
4000	LMNA	HP:0002515	Waddling gait	5/5	OMIM:181350
4000	LMNA	HP:0002515	Waddling gait	54/102	OMIM:131300
4000	LMNA	HP:0002515	Waddling gait	HP:0040282	ORPHA:98855
4000	LMNA	HP:0002515	Waddling gait	HP:0040282	ORPHA:98853
4000	LMNA	HP:0002505	Loss of ambulation	4/41	OMIM:181350
4000	LMNA	HP:0002505	Loss of ambulation	1/1	OMIM:616516
4000	LMNA	HP:0002505	Loss of ambulation	6/15	OMIM:613205
4000	LMNA	HP:0003805	Rimmed vacuoles	HP:0040282	ORPHA:98855
4000	LMNA	HP:0003805	Rimmed vacuoles	HP:0040282	ORPHA:98853
4000	LMNA	HP:0008800	Limited hip movement	HP:0040283	ORPHA:740
4000	LMNA	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:79084
4000	LMNA	HP:0001397	Hepatic steatosis	87/108	OMIM:151660
4000	LMNA	HP:0001397	Hepatic steatosis	HP:0040281	ORPHA:79474
4000	LMNA	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:280365
4000	LMNA	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:2348
4000	LMNA	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:1662
4000	LMNA	HP:0025354	Abnormal cellular phenotype	HP:0040281	ORPHA:1662
4000	LMNA	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:90153
4000	LMNA	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:79474
4000	LMNA	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:740
4000	LMNA	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:157973
4000	LMNA	HP:0001371	Flexion contracture	-	OMIM:248370
4000	LMNA	HP:0001371	Flexion contracture	HP:0040282	ORPHA:157973
4000	LMNA	HP:0001371	Flexion contracture	HP:0040283	ORPHA:90153
4000	LMNA	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:79474
4000	LMNA	HP:0001387	Joint stiffness	9/9	OMIM:248370
4000	LMNA	HP:0001387	Joint stiffness	HP:0040281	ORPHA:98855
4000	LMNA	HP:0001387	Joint stiffness	HP:0040281	ORPHA:98853
4000	LMNA	HP:0001387	Joint stiffness	HP:0040283	ORPHA:740
4000	LMNA	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:157973
4000	LMNA	HP:0001382	Joint hypermobility	-	OMIM:615777
4000	LMNA	HP:0000050	Hypoplastic male external genitalia	HP:0040282	ORPHA:740
4000	LMNA	HP:0000047	Hypospadias	HP:0040283	ORPHA:1662
4000	LMNA	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4000	LMNA	HP:0000035	Abnormal testis morphology	HP:0040281	ORPHA:79474
4000	LMNA	HP:0002692	Hypoplastic facial bones	1/2	OMIM:619793
4000	LMNA	HP:0008897	Postnatal growth retardation	-	OMIM:248370
4000	LMNA	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4000	LMNA	HP:0008887	Adipose tissue loss	-	OMIM:151660
4000	LMNA	HP:0007509	Patchy hypo- and hyperpigmentation	HP:0040281	ORPHA:79474
4000	LMNA	HP:0012084	Abnormality of skeletal muscle fiber size	HP:0040283	ORPHA:2348
4000	LMNA	HP:0031185	Increased circulating NT-proBNP concentration	3/5	OMIM:151660
4000	LMNA	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:79474
4000	LMNA	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:90153
4000	LMNA	HP:0007485	Absence of subcutaneous fat	HP:0040281	ORPHA:740
4000	LMNA	HP:0007485	Absence of subcutaneous fat	-	OMIM:176670
4000	LMNA	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4000	LMNA	HP:0001324	Muscle weakness	40/96	OMIM:131300
4000	LMNA	HP:0001324	Muscle weakness	0/4	OMIM:151660
4000	LMNA	HP:0001324	Muscle weakness	-	OMIM:616516
4000	LMNA	HP:0002673	Coxa valga	1/1	OMIM:248370
4000	LMNA	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4000	LMNA	HP:0002673	Coxa valga	HP:0040282	ORPHA:740
4000	LMNA	HP:0002671	Basal cell carcinoma	HP:0040281	ORPHA:363618
4000	LMNA	HP:0000007	Autosomal recessive inheritance	-	OMIM:616516
4000	LMNA	HP:0000007	Autosomal recessive inheritance	-	OMIM:176670
4000	LMNA	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4000	LMNA	HP:0000007	Autosomal recessive inheritance	-	OMIM:605588
4000	LMNA	HP:0000007	Autosomal recessive inheritance	-	OMIM:248370
4000	LMNA	HP:0002669	Osteosarcoma	HP:0040281	ORPHA:79474
4000	LMNA	HP:0000006	Autosomal dominant inheritance	-	OMIM:176670
4000	LMNA	HP:0000006	Autosomal dominant inheritance	-	OMIM:610140
4000	LMNA	HP:0000006	Autosomal dominant inheritance	-	OMIM:613205
4000	LMNA	HP:0000006	Autosomal dominant inheritance	-	OMIM:151660
4000	LMNA	HP:0000006	Autosomal dominant inheritance	-	OMIM:181350
4000	LMNA	HP:0000006	Autosomal dominant inheritance	-	OMIM:212112
4000	LMNA	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
4000	LMNA	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4000	LMNA	HP:0000006	Autosomal dominant inheritance	-	OMIM:115200
4000	LMNA	HP:0000006	Autosomal dominant inheritance	-	OMIM:619793
4000	LMNA	HP:0002650	Scoliosis	2/6	OMIM:151660
4000	LMNA	HP:0002650	Scoliosis	HP:0040283	OMIM:616516
4000	LMNA	HP:0002650	Scoliosis	5/40	OMIM:181350
4000	LMNA	HP:0002650	Scoliosis	12/14	OMIM:131300
4000	LMNA	HP:0002650	Scoliosis	HP:0040283	ORPHA:98855
4000	LMNA	HP:0002650	Scoliosis	HP:0040283	ORPHA:98853
4000	LMNA	HP:0002645	Wormian bones	1/1	OMIM:248370
4000	LMNA	HP:0002645	Wormian bones	HP:0040281	ORPHA:90153
4000	LMNA	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:98853
4000	LMNA	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4000	LMNA	HP:0002616	Aortic root aneurysm	HP:0040281	ORPHA:363618
4000	LMNA	HP:0002621	Atherosclerosis	HP:0040282	ORPHA:280365
4000	LMNA	HP:0002621	Atherosclerosis	HP:0040282	ORPHA:740
4000	LMNA	HP:0002621	Atherosclerosis	-	OMIM:151660
4000	LMNA	HP:0002621	Atherosclerosis	HP:0040282	ORPHA:2348
4000	LMNA	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4000	LMNA	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4000	LMNA	HP:0002600	Hyporeflexia of lower limbs	HP:0040281	ORPHA:98855
4000	LMNA	HP:0012185	Constrictive median neuropathy	2/2	OMIM:151660
4000	LMNA	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4000	LMNA	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:90153
4000	LMNA	HP:0000160	Narrow mouth	HP:0040281	ORPHA:740
4000	LMNA	HP:0000160	Narrow mouth	HP:0040281	ORPHA:1662
4000	LMNA	HP:0000176	Submucous cleft hard palate	HP:0040281	ORPHA:1662
4000	LMNA	HP:0000175	Cleft palate	2/7	OMIM:615777
4000	LMNA	HP:0000144	Decreased fertility	HP:0040281	ORPHA:79474
4000	LMNA	HP:0000135	Hypogonadism	HP:0040281	ORPHA:79474
4000	LMNA	HP:0002797	Osteolysis	-	OMIM:176670
4000	LMNA	HP:0002797	Osteolysis	HP:0040281	ORPHA:90153
4000	LMNA	HP:0000147	Polycystic ovaries	HP:0040282	ORPHA:280365
4000	LMNA	HP:0000147	Polycystic ovaries	HP:0040282	ORPHA:79084
4000	LMNA	HP:0000147	Polycystic ovaries	-	OMIM:151660
4000	LMNA	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:2229
4000	LMNA	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:2348
4000	LMNA	HP:0008994	Proximal muscle weakness in lower limbs	21/40	OMIM:181350
4000	LMNA	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:98855
4000	LMNA	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:98856
4000	LMNA	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:98853
4000	LMNA	HP:0008993	Increased intraabdominal fat	HP:0040282	ORPHA:280365
4000	LMNA	HP:0008993	Increased intraabdominal fat	-	OMIM:151660
4000	LMNA	HP:0006335	Persistence of primary teeth	HP:0040283	ORPHA:740
4000	LMNA	HP:0008997	Proximal muscle weakness in upper limbs	35/41	OMIM:181350
4000	LMNA	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040282	ORPHA:98855
4000	LMNA	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040282	ORPHA:98853
4000	LMNA	HP:0008981	Calf muscle hypertrophy	HP:0040281	ORPHA:79474
4000	LMNA	HP:0008985	Increased intramuscular fat	-	OMIM:151660
4000	LMNA	HP:0008988	Pelvic girdle muscle atrophy	HP:0040283	ORPHA:98856
4000	LMNA	HP:0008968	Muscle hypertrophy of the lower extremities	HP:0040282	ORPHA:280365
4000	LMNA	HP:0008959	Distal upper limb muscle weakness	17/41	OMIM:181350
4000	LMNA	HP:0008959	Distal upper limb muscle weakness	HP:0040282	ORPHA:98856
4000	LMNA	HP:0008948	Proximal upper limb amyotrophy	1/5	OMIM:613205
4000	LMNA	HP:0008948	Proximal upper limb amyotrophy	HP:0040282	ORPHA:98855
4000	LMNA	HP:0008948	Proximal upper limb amyotrophy	HP:0040282	ORPHA:98853
4000	LMNA	HP:0007618	Subcutaneous calcification	HP:0040281	ORPHA:79474
4000	LMNA	HP:0008956	Proximal lower limb amyotrophy	HP:0040282	ORPHA:98855
4000	LMNA	HP:0008956	Proximal lower limb amyotrophy	HP:0040282	ORPHA:98856
4000	LMNA	HP:0008956	Proximal lower limb amyotrophy	HP:0040282	ORPHA:98853
4000	LMNA	HP:0008944	Distal lower limb amyotrophy	-	OMIM:181350
4000	LMNA	HP:0006288	Advanced eruption of teeth	HP:0040282	ORPHA:280365
4000	LMNA	HP:0006288	Advanced eruption of teeth	HP:0040282	ORPHA:2348
4000	LMNA	HP:0007592	Aplasia/Hypoplasia of the eccrine sweat glands	HP:0040281	ORPHA:1662
4000	LMNA	HP:0006266	Small placenta	HP:0040281	ORPHA:1662
4000	LMNA	HP:0006267	Large placenta	HP:0040283	ORPHA:1662
4000	LMNA	HP:0006248	Limited wrist movement	HP:0040283	ORPHA:740
4000	LMNA	HP:0002781	Upper airway obstruction	HP:0040283	ORPHA:740
4000	LMNA	HP:0000134	Female hypogonadism	HP:0040282	ORPHA:740
4000	LMNA	HP:0012100	Abnormal circulating creatinine concentration	0/6	OMIM:151660
4000	LMNA	HP:0002758	Osteoarthritis	HP:0040283	ORPHA:740
4000	LMNA	HP:0002751	Kyphoscoliosis	-	OMIM:605588
4000	LMNA	HP:0002747	Respiratory insufficiency due to muscle weakness	12/20	OMIM:613205
4000	LMNA	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040284	ORPHA:98853
4000	LMNA	HP:0002020	Gastroesophageal reflux	1/2	OMIM:619793
4000	LMNA	HP:0002035	Rectal prolapse	1/2	OMIM:619793
4000	LMNA	HP:0005997	Neck joint contracture	-	OMIM:181350
4000	LMNA	HP:0003327	Axial muscle weakness	HP:0040281	ORPHA:157973
4000	LMNA	HP:0003327	Axial muscle weakness	12/12	OMIM:613205
4000	LMNA	HP:0003325	Limb-girdle muscle weakness	1/1	OMIM:181350
4000	LMNA	HP:0003326	Myalgia	HP:0040283	ORPHA:280365
4000	LMNA	HP:0003326	Myalgia	HP:0040283	ORPHA:2348
4000	LMNA	HP:0003326	Myalgia	-	OMIM:151660
4000	LMNA	HP:0003307	Hyperlordosis	1/41	OMIM:181350
4000	LMNA	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:157973
4000	LMNA	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:98855
4000	LMNA	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:98853
4000	LMNA	HP:0003306	Spinal rigidity	36/40	OMIM:181350
4000	LMNA	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:157973
4000	LMNA	HP:0003306	Spinal rigidity	5/5	OMIM:613205
4000	LMNA	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:98855
4000	LMNA	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:98853
4000	LMNA	HP:0005978	Type II diabetes mellitus	89/122	OMIM:151660
4000	LMNA	HP:0005978	Type II diabetes mellitus	HP:0040281	ORPHA:79474
4000	LMNA	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	-	OMIM:181350
4000	LMNA	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	HP:0040282	ORPHA:98855
4000	LMNA	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	HP:0040282	ORPHA:98853
4000	LMNA	HP:0100526	Neoplasm of the lung	HP:0040282	ORPHA:79474
4000	LMNA	HP:0011807	Type 1 muscle fiber atrophy	HP:0040282	ORPHA:98855
4000	LMNA	HP:0011807	Type 1 muscle fiber atrophy	HP:0040282	ORPHA:98853
4000	LMNA	HP:0011800	Midface retrusion	-	OMIM:176670
4000	LMNA	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:1662
4000	LMNA	HP:0002098	Respiratory distress	1/2	OMIM:619793
4000	LMNA	HP:0002097	Emphysema	HP:0040281	ORPHA:363618
4000	LMNA	HP:0002092	Pulmonary arterial hypertension	HP:0040284	ORPHA:740
4000	LMNA	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:157973
4000	LMNA	HP:0003390	Sensory axonal neuropathy	HP:0040281	ORPHA:98856
4000	LMNA	HP:0003391	Gowers sign	3/3	OMIM:181350
4000	LMNA	HP:0003378	Axonal degeneration/regeneration	-	OMIM:605588
4000	LMNA	HP:0003376	Steppage gait	-	OMIM:605588
4000	LMNA	HP:0003376	Steppage gait	HP:0040282	ORPHA:98856
4000	LMNA	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	HP:0040282	ORPHA:98856
4000	LMNA	HP:0003388	Easy fatigability	36/76	OMIM:131300
4000	LMNA	HP:0003383	Onion bulb formation	-	OMIM:605588
4000	LMNA	HP:0003384	Peripheral axonal atrophy	-	OMIM:605588
4000	LMNA	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:605588
4000	LMNA	HP:0003380	Decreased number of peripheral myelinated nerve fibers	HP:0040281	ORPHA:98856
4000	LMNA	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4000	LMNA	HP:0011727	Peroneal muscle weakness	1/1	OMIM:181350
4000	LMNA	HP:0100585	Telangiectasia of the skin	1/1	OMIM:212112
4000	LMNA	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:79474
4000	LMNA	HP:0100578	Lipoatrophy	HP:0040281	ORPHA:280365
4000	LMNA	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
4000	LMNA	HP:0100578	Lipoatrophy	HP:0040281	ORPHA:79084
4000	LMNA	HP:0100578	Lipoatrophy	HP:0040281	ORPHA:363618
4000	LMNA	HP:0100578	Lipoatrophy	HP:0040281	ORPHA:79474
4000	LMNA	HP:0100578	Lipoatrophy	HP:0040281	ORPHA:2348
4000	LMNA	HP:0011711	Left anterior fascicular block	1/1	OMIM:181350
4000	LMNA	HP:0011705	First degree atrioventricular block	1/1	OMIM:181350
4000	LMNA	HP:0011705	First degree atrioventricular block	1/40	OMIM:115200
4000	LMNA	HP:0011706	Second degree atrioventricular block	3/40	OMIM:115200
4000	LMNA	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	HP:0040281	ORPHA:168796
4000	LMNA	HP:0040270	Impaired glucose tolerance	9/9	OMIM:248370
4000	LMNA	HP:0040266	Proximal upper limb muscle hypertrophy	HP:0040282	ORPHA:280365
4000	LMNA	HP:0008180	Mildly elevated creatine kinase	-	OMIM:181350
4000	LMNA	HP:0002155	Hypertriglyceridemia	79/118	OMIM:151660
4000	LMNA	HP:0002155	Hypertriglyceridemia	HP:0040283	OMIM:616516
4000	LMNA	HP:0002155	Hypertriglyceridemia	HP:0040281	ORPHA:79474
4000	LMNA	HP:0002155	Hypertriglyceridemia	HP:0040281	ORPHA:280365
4000	LMNA	HP:0002155	Hypertriglyceridemia	HP:0040281	ORPHA:363618
4000	LMNA	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:98855
4000	LMNA	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:98853
4000	LMNA	HP:0002155	Hypertriglyceridemia	HP:0040281	ORPHA:2348
4000	LMNA	HP:0003484	Upper limb muscle weakness	-	OMIM:605588
4000	LMNA	HP:0003484	Upper limb muscle weakness	5/5	OMIM:613205
4000	LMNA	HP:0003482	EMG: axonal abnormality	HP:0040281	ORPHA:98856
4000	LMNA	HP:0002149	Hyperuricemia	3/6	OMIM:151660
4000	LMNA	HP:0003447	Axonal loss	HP:0040281	ORPHA:98856
4000	LMNA	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
4000	LMNA	HP:0003457	EMG abnormality	HP:0040282	ORPHA:157973
4000	LMNA	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98855
4000	LMNA	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98853
4000	LMNA	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:605588
4000	LMNA	HP:0003431	Decreased motor nerve conduction velocity	HP:0040284	ORPHA:98856
4000	LMNA	HP:0004757	Paroxysmal atrial fibrillation	1/5	OMIM:613205
4000	LMNA	HP:0004756	Ventricular tachycardia	1/15	OMIM:613205
4000	LMNA	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:300751
4000	LMNA	HP:0004749	Atrial flutter	HP:0040283	ORPHA:300751
4000	LMNA	HP:0004749	Atrial flutter	-	OMIM:115200
4000	LMNA	HP:0003418	Back pain	HP:0040282	ORPHA:98855
4000	LMNA	HP:0003418	Back pain	HP:0040282	ORPHA:98853
4000	LMNA	HP:0011916	Toe extensor amyotrophy	HP:0040282	ORPHA:98856
4000	LMNA	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:740
4000	LMNA	HP:0002170	Intracranial hemorrhage	HP:0040281	ORPHA:363618
4000	LMNA	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:1662
4000	LMNA	HP:0008244	Congenital adrenal hypoplasia	HP:0040283	ORPHA:1662
4000	LMNA	HP:0008209	Premature ovarian insufficiency	1/4	OMIM:151660
4000	LMNA	HP:0008209	Premature ovarian insufficiency	HP:0040281	ORPHA:79474
4000	LMNA	HP:0010505	Limitation of movement at ankles	HP:0040283	ORPHA:740
4000	LMNA	HP:0011838	Sclerodactyly	1/1	OMIM:212112
4000	LMNA	HP:0011832	Narrow nasal tip	HP:0040282	ORPHA:740
4000	LMNA	HP:0008283	Fasting hyperinsulinemia	HP:0040281	ORPHA:79474
4000	LMNA	HP:0003596	Middle age onset	2/40	OMIM:181350
4000	LMNA	HP:0003596	Middle age onset	10/40	OMIM:115200
4000	LMNA	HP:0003593	Infantile onset	14/20	OMIM:613205
4000	LMNA	HP:0003577	Congenital onset	1/15	OMIM:613205
4000	LMNA	HP:0003577	Congenital onset	1/2	OMIM:619793
4000	LMNA	HP:0002240	Hepatomegaly	9/9	OMIM:248370
4000	LMNA	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:280365
4000	LMNA	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:79084
4000	LMNA	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2348
4000	LMNA	HP:0002240	Hepatomegaly	2/2	OMIM:151660
4000	LMNA	HP:0003584	Late onset	1/6	OMIM:151660
4000	LMNA	HP:0003581	Adult onset	1/3	OMIM:151660
4000	LMNA	HP:0002223	Absent eyebrow	HP:0040283	ORPHA:740
4000	LMNA	HP:0002223	Absent eyebrow	HP:0040281	ORPHA:363618
4000	LMNA	HP:0003551	Difficulty climbing stairs	3/3	OMIM:181350
4000	LMNA	HP:0200102	Sparse or absent eyelashes	HP:0040281	ORPHA:1662
4000	LMNA	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:280365
4000	LMNA	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:363618
4000	LMNA	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:79474
4000	LMNA	HP:0002232	Patchy alopecia	HP:0040282	ORPHA:740
4000	LMNA	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:280365
4000	LMNA	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:2348
4000	LMNA	HP:0002231	Sparse body hair	HP:0040281	ORPHA:79474
4000	LMNA	HP:0003560	Muscular dystrophy	HP:0040283	ORPHA:300751
4000	LMNA	HP:0003560	Muscular dystrophy	1/6	OMIM:151660
4000	LMNA	HP:0003560	Muscular dystrophy	-	OMIM:616516
4000	LMNA	HP:0003560	Muscular dystrophy	15/15	OMIM:613205
4000	LMNA	HP:0002211	White forelock	HP:0040281	ORPHA:79474
4000	LMNA	HP:0002209	Sparse scalp hair	-	OMIM:248370
4000	LMNA	HP:0010721	Abnormal hair whorl	HP:0040281	ORPHA:79474
4000	LMNA	HP:0100783	Breast aplasia	HP:0040283	ORPHA:90153
4000	LMNA	HP:0009726	Renal neoplasm	HP:0040282	ORPHA:79474
4000	LMNA	HP:0002289	Alopecia universalis	HP:0040281	ORPHA:363618
4000	LMNA	HP:0034671	Knee contracture	4/41	OMIM:181350
4000	LMNA	HP:0034681	Finger joint contracture	2/41	OMIM:181350
4000	LMNA	HP:0034681	Finger joint contracture	1/1	OMIM:212112
4000	LMNA	HP:0010648	Dermal translucency	HP:0040281	ORPHA:1662
4000	LMNA	HP:0007002	Motor axonal neuropathy	HP:0040281	ORPHA:98856
4000	LMNA	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:157973
4000	LMNA	HP:0011968	Feeding difficulties	2/5	OMIM:613205
4000	LMNA	HP:0011968	Feeding difficulties	1/2	OMIM:619793
4000	LMNA	HP:0003510	Severe short stature	7/7	OMIM:615777
4000	LMNA	HP:0007078	Decreased amplitude of sensory action potentials	HP:0040281	ORPHA:98856
4000	LMNA	HP:0008391	Dystrophic fingernails	HP:0040282	ORPHA:740
4000	LMNA	HP:0001058	Poor wound healing	1/1	OMIM:212112
4000	LMNA	HP:0003697	Scapuloperoneal amyotrophy	13/41	OMIM:181350
4000	LMNA	HP:0003697	Scapuloperoneal amyotrophy	3/5	OMIM:613205
4000	LMNA	HP:0001034	Hypermelanotic macule	HP:0040283	ORPHA:740
4000	LMNA	HP:0002362	Shuffling gait	HP:0040282	ORPHA:740
4000	LMNA	HP:0003693	Distal amyotrophy	3/41	OMIM:181350
4000	LMNA	HP:0003693	Distal amyotrophy	-	OMIM:605588
4000	LMNA	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:98856
4000	LMNA	HP:0003691	Scapular winging	1/41	OMIM:181350
4000	LMNA	HP:0003691	Scapular winging	HP:0040282	ORPHA:98855
4000	LMNA	HP:0003691	Scapular winging	HP:0040282	ORPHA:98853
4000	LMNA	HP:0003690	Limb muscle weakness	-	OMIM:181350
4000	LMNA	HP:0002359	Frequent falls	5/5	OMIM:181350
4000	LMNA	HP:0001029	Poikiloderma	1/1	OMIM:212112
4000	LMNA	HP:0001029	Poikiloderma	1/1	OMIM:248370
4000	LMNA	HP:0003676	Progressive	-	OMIM:613205
4000	LMNA	HP:0003676	Progressive	-	OMIM:616516
4000	LMNA	HP:0001007	Hirsutism	-	OMIM:151660
4000	LMNA	HP:0001015	Prominent superficial veins	10/12	OMIM:151660
4000	LMNA	HP:0001015	Prominent superficial veins	HP:0040281	ORPHA:79474
4000	LMNA	HP:0003677	Slowly progressive	-	OMIM:181350
4000	LMNA	HP:0002315	Headache	-	OMIM:131300
4000	LMNA	HP:0004976	Knee dislocation	6/7	OMIM:615777
4000	LMNA	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:740
4000	LMNA	HP:0100649	Neoplasm of the oral cavity	HP:0040282	ORPHA:79474
4000	LMNA	HP:0200021	Down-sloping shoulders	-	OMIM:212112
4000	LMNA	HP:0200021	Down-sloping shoulders	1/1	OMIM:248370
4000	LMNA	HP:0100659	Abnormal cerebral vascular morphology	HP:0040281	ORPHA:79474
4000	LMNA	HP:0100658	Cellulitis	HP:0040283	ORPHA:2348
4000	LMNA	HP:0200034	Papule	HP:0040283	ORPHA:740
4000	LMNA	HP:0009839	Osteolytic defects of the distal phalanges of the hand	HP:0040283	ORPHA:740
4000	LMNA	HP:0009839	Osteolytic defects of the distal phalanges of the hand	-	OMIM:248370
4000	LMNA	HP:0009839	Osteolytic defects of the distal phalanges of the hand	HP:0040281	ORPHA:90153
4000	LMNA	HP:0100678	Premature skin wrinkling	HP:0040281	ORPHA:740
4000	LMNA	HP:0100678	Premature skin wrinkling	HP:0040281	ORPHA:363618
4000	LMNA	HP:0100679	Lack of skin elasticity	HP:0040282	ORPHA:740
4000	LMNA	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:79474
4000	LMNA	HP:0100679	Lack of skin elasticity	HP:0040283	ORPHA:90153
4000	LMNA	HP:0100601	Eclampsia	HP:0040283	ORPHA:2348
4000	LMNA	HP:0100607	Dysmenorrhea	HP:0040283	ORPHA:280365
4000	LMNA	HP:0100607	Dysmenorrhea	HP:0040283	ORPHA:2348
4000	LMNA	HP:0100615	Ovarian neoplasm	HP:0040282	ORPHA:79474
4000	LMNA	HP:0001070	Mottled pigmentation	-	OMIM:248370
4000	LMNA	HP:0001070	Mottled pigmentation	0/3	OMIM:151660
4000	LMNA	HP:0001072	Thickened skin	2/2	OMIM:619793
4000	LMNA	HP:0009803	Short phalanx of finger	-	OMIM:615777
4000	LMNA	HP:0200042	Skin ulcer	HP:0040281	ORPHA:79474
4000	LMNA	HP:0200041	Skin erosion	HP:0040281	ORPHA:1662
4000	LMNA	HP:0033454	Tube feeding	3/15	OMIM:613205
4000	LMNA	HP:0007149	Distal upper limb amyotrophy	HP:0040282	ORPHA:98856
4000	LMNA	HP:0033477	Abnormal circulating lipoprotein lipase concentration	0/1	OMIM:151660
4000	LMNA	HP:0010766	Ectopic calcification	HP:0040283	ORPHA:740
4000	LMNA	HP:0007126	Proximal amyotrophy	3/41	OMIM:181350
4000	LMNA	HP:0007126	Proximal amyotrophy	HP:0040283	ORPHA:98856
4000	LMNA	HP:0009771	Osteolytic defects of the phalanges of the hand	HP:0040282	ORPHA:280365
4000	LMNA	HP:0009771	Osteolytic defects of the phalanges of the hand	HP:0040281	ORPHA:79474
4000	LMNA	HP:0009763	Limb pain	63/92	OMIM:131300
4000	LMNA	HP:0008419	Intervertebral disk degeneration	HP:0040282	ORPHA:79474
4000	LMNA	HP:0003623	Neonatal onset	1/40	OMIM:181350
4000	LMNA	HP:0004970	Ascending tubular aorta aneurysm	HP:0040283	ORPHA:1662
4000	LMNA	HP:0003635	Loss of subcutaneous adipose tissue in limbs	HP:0040282	ORPHA:280365
4000	LMNA	HP:0003635	Loss of subcutaneous adipose tissue in limbs	121/121	OMIM:151660
4000	LMNA	HP:0003635	Loss of subcutaneous adipose tissue in limbs	-	OMIM:248370
4000	LMNA	HP:0003635	Loss of subcutaneous adipose tissue in limbs	HP:0040282	ORPHA:2348
4000	LMNA	HP:0003621	Juvenile onset	2/5	OMIM:613205
4000	LMNA	HP:0003621	Juvenile onset	5/9	OMIM:151660
4000	LMNA	HP:0003621	Juvenile onset	11/40	OMIM:181350
4000	LMNA	HP:0003621	Juvenile onset	-	OMIM:248370
4000	LMNA	HP:0003621	Juvenile onset	-	OMIM:131300
4000	LMNA	HP:0004950	Peripheral arterial stenosis	HP:0040281	ORPHA:79474
4000	LMNA	HP:0004943	Accelerated atherosclerosis	HP:0040282	ORPHA:280365
4000	LMNA	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4000	LMNA	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:2348
4000	LMNA	HP:0005595	Generalized hyperkeratosis	HP:0040281	ORPHA:1662
4000	LMNA	HP:0004279	Short palm	HP:0040281	ORPHA:79474
4000	LMNA	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4000	LMNA	HP:6001056	Out-toeing	-	OMIM:131300
4000	LMNA	HP:0000651	Diplopia	-	OMIM:131300
4000	LMNA	HP:0001956	Truncal obesity	2/7	OMIM:615777
4000	LMNA	HP:0000621	Entropion	HP:0040281	ORPHA:1662
4000	LMNA	HP:0001952	Glucose intolerance	2/2	OMIM:151660
4000	LMNA	HP:0001903	Anemia	HP:0040283	OMIM:131300
4000	LMNA	HP:0010049	Short metacarpal	-	OMIM:615777
4000	LMNA	HP:0009060	Scapular muscle atrophy	10/41	OMIM:181350
4000	LMNA	HP:0009064	Generalized lipodystrophy	6/9	OMIM:151660
4000	LMNA	HP:0009064	Generalized lipodystrophy	HP:0040281	ORPHA:79474
4000	LMNA	HP:0009053	Distal lower limb muscle weakness	21/40	OMIM:181350
4000	LMNA	HP:0009053	Distal lower limb muscle weakness	HP:0040281	ORPHA:98856
4000	LMNA	HP:0011362	Abnormal hair quantity	HP:0040281	ORPHA:79474
4000	LMNA	HP:0009046	Difficulty running	7/7	OMIM:181350
4000	LMNA	HP:0009049	Peroneal muscle atrophy	1/1	OMIM:181350
4000	LMNA	HP:0009049	Peroneal muscle atrophy	HP:0040282	ORPHA:98856
4000	LMNA	HP:0011354	Generalized abnormality of skin	HP:0040281	ORPHA:740
4000	LMNA	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:740
4000	LMNA	HP:0012664	Reduced left ventricular ejection fraction	1/1	OMIM:181350
4000	LMNA	HP:0009027	Foot dorsiflexor weakness	1/1	OMIM:181350
4000	LMNA	HP:0009027	Foot dorsiflexor weakness	-	OMIM:605588
4000	LMNA	HP:0000678	Dental crowding	10/10	OMIM:248370
4000	LMNA	HP:0000678	Dental crowding	-	OMIM:615777
4000	LMNA	HP:0000678	Dental crowding	HP:0040283	ORPHA:740
4000	LMNA	HP:0000695	Natal tooth	HP:0040283	ORPHA:1662
4000	LMNA	HP:0000685	Hypoplasia of teeth	-	OMIM:248370
4000	LMNA	HP:0012645	Enlarged peripheral nerve	-	OMIM:151660
4000	LMNA	HP:0009002	Loss of truncal subcutaneous adipose tissue	108/115	OMIM:151660
4000	LMNA	HP:0000670	Carious teeth	-	OMIM:131300
4000	LMNA	HP:0011304	Broad thumb	2/7	OMIM:615777
4000	LMNA	HP:0000668	Hypodontia	-	OMIM:615777
4000	LMNA	HP:0000668	Hypodontia	HP:0040283	ORPHA:740
4000	LMNA	HP:0000664	Synophrys	-	OMIM:615777
4000	LMNA	HP:0004325	Decreased body weight	HP:0040281	ORPHA:79474
4000	LMNA	HP:0004322	Short stature	HP:0040281	ORPHA:90153
4000	LMNA	HP:0004322	Short stature	HP:0040281	ORPHA:79474
4000	LMNA	HP:0004322	Short stature	1/5	OMIM:151660
4000	LMNA	HP:0031956	Elevated circulating aspartate aminotransferase concentration	3/6	OMIM:151660
4000	LMNA	HP:0004334	Dermal atrophy	HP:0040283	ORPHA:740
4000	LMNA	HP:0004334	Dermal atrophy	-	OMIM:248370
4000	LMNA	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:90153
4000	LMNA	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:1662
4000	LMNA	HP:0004331	Decreased skull ossification	HP:0040281	ORPHA:1662
4000	LMNA	HP:0005659	Thoracic kyphoscoliosis	HP:0040283	ORPHA:1662
4000	LMNA	HP:0004326	Cachexia	HP:0040283	ORPHA:157973
4000	LMNA	HP:0031964	Elevated circulating alanine aminotransferase concentration	3/6	OMIM:151660
4000	LMNA	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:280365
4000	LMNA	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:300751
4000	LMNA	HP:0004308	Ventricular arrhythmia	6/18	OMIM:181350
4000	LMNA	HP:0004308	Ventricular arrhythmia	20/20	OMIM:115200
4000	LMNA	HP:0030685	Decreased adiponectin level	HP:0040282	ORPHA:280365
4000	LMNA	HP:0003077	Hyperlipidemia	-	OMIM:248370
4000	LMNA	HP:0003077	Hyperlipidemia	HP:0040282	ORPHA:90153
4000	LMNA	HP:0003076	Glycosuria	HP:0040281	ORPHA:79474
4000	LMNA	HP:0003074	Hyperglycemia	0/9	OMIM:248370
4000	LMNA	HP:0003074	Hyperglycemia	8/9	OMIM:151660
4000	LMNA	HP:0003074	Hyperglycemia	HP:0040281	ORPHA:79474
4000	LMNA	HP:0003089	Hamstring contractures	1/5	OMIM:613205
4000	LMNA	HP:0004388	Microcolon	HP:0040283	ORPHA:1662
4000	LMNA	HP:0004382	Mitral valve calcification	HP:0040281	ORPHA:363618
4000	LMNA	HP:0004382	Mitral valve calcification	HP:0040283	ORPHA:740
4000	LMNA	HP:0004380	Aortic valve calcification	HP:0040283	ORPHA:740
4000	LMNA	HP:0004380	Aortic valve calcification	HP:0040281	ORPHA:79474
4000	LMNA	HP:0004396	Poor appetite	-	OMIM:131300
4000	LMNA	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4000	LMNA	HP:0004361	Abnormal circulating leptin concentration	HP:0040281	ORPHA:79474
4000	LMNA	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4000	LMNA	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4000	LMNA	HP:0003011	Abnormality of the musculature	HP:0040283	ORPHA:90153
4000	LMNA	HP:0003026	Short long bone	7/7	OMIM:615777
4000	LMNA	HP:0031936	Delayed ability to walk	10/10	OMIM:613205
4000	LMNA	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4000	LMNA	HP:0004349	Reduced bone mineral density	HP:0040281	ORPHA:79474
4000	LMNA	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:740
4000	LMNA	HP:0012745	Short palpebral fissure	HP:0040281	ORPHA:1662
4000	LMNA	HP:0100013	Neoplasm of the breast	HP:0040282	ORPHA:79474
4000	LMNA	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:98855
4000	LMNA	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:98853
4000	LMNA	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4000	LMNA	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4000	LMNA	HP:0000765	Abnormal thorax morphology	HP:0040283	ORPHA:740
4000	LMNA	HP:0000765	Abnormal thorax morphology	HP:0040281	ORPHA:79474
4000	LMNA	HP:0012723	Sinoatrial block	HP:0040283	ORPHA:300751
4000	LMNA	HP:0100031	Neoplasm of the thyroid gland	HP:0040282	ORPHA:79474
4000	LMNA	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4000	LMNA	HP:0012722	Heart block	HP:0040283	ORPHA:300751
4000	LMNA	HP:0000750	Delayed speech and language development	-	OMIM:615777
4000	LMNA	HP:0011457	Loss of eyelashes	HP:0040283	ORPHA:740
4000	LMNA	HP:0011463	Childhood onset	3/20	OMIM:613205
4000	LMNA	HP:0011463	Childhood onset	2/9	OMIM:151660
4000	LMNA	HP:0011463	Childhood onset	1/1	OMIM:616516
4000	LMNA	HP:0011463	Childhood onset	25/40	OMIM:181350
4000	LMNA	HP:0011463	Childhood onset	1/1	OMIM:248370
4000	LMNA	HP:0011463	Childhood onset	1/1	OMIM:212112
4000	LMNA	HP:0011462	Young adult onset	1/40	OMIM:181350
4000	LMNA	HP:0011462	Young adult onset	2/9	OMIM:151660
4000	LMNA	HP:0011462	Young adult onset	20/40	OMIM:115200
4000	LMNA	HP:0011461	Fetal onset	1/2	OMIM:619793
4000	LMNA	HP:0011461	Fetal onset	7/7	OMIM:615777
4000	LMNA	HP:0009130	Hand muscle atrophy	HP:0040282	ORPHA:98856
4000	LMNA	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
4000	LMNA	HP:0009125	Lipodystrophy	HP:0040282	ORPHA:300751
4000	LMNA	HP:0009125	Lipodystrophy	11/11	OMIM:248370
4000	LMNA	HP:0009125	Lipodystrophy	HP:0040281	ORPHA:280365
4000	LMNA	HP:0009125	Lipodystrophy	-	OMIM:212112
4000	LMNA	HP:0009125	Lipodystrophy	121/121	OMIM:151660
4000	LMNA	HP:0009125	Lipodystrophy	HP:0040283	ORPHA:98855
4000	LMNA	HP:0009125	Lipodystrophy	HP:0040283	ORPHA:98853
4000	LMNA	HP:0009125	Lipodystrophy	HP:0040281	ORPHA:2348
4000	LMNA	HP:0000774	Narrow chest	HP:0040283	ORPHA:157973
4000	LMNA	HP:0000774	Narrow chest	2/7	OMIM:615777
4000	LMNA	HP:0009129	Upper limb amyotrophy	7/41	OMIM:181350
4000	LMNA	HP:0003124	Hypercholesterolemia	1/1	OMIM:248370
4000	LMNA	HP:0003124	Hypercholesterolemia	55/125	OMIM:151660
4000	LMNA	HP:0003124	Hypercholesterolemia	HP:0040281	ORPHA:363618
4000	LMNA	HP:0004416	Precocious atherosclerosis	HP:0040282	ORPHA:280365
4000	LMNA	HP:0004416	Precocious atherosclerosis	-	OMIM:176670
4000	LMNA	HP:0004414	Abnormality of the pulmonary artery	HP:0040281	ORPHA:363618
4000	LMNA	HP:0004414	Abnormality of the pulmonary artery	HP:0040281	ORPHA:79474
4000	LMNA	HP:0030781	Increased circulating free fatty acid level	3/6	OMIM:151660
4000	LMNA	HP:0003198	Myopathy	HP:0040283	ORPHA:154
4000	LMNA	HP:0003198	Myopathy	1/14	OMIM:610140
4000	LMNA	HP:0003198	Myopathy	HP:0040283	ORPHA:280365
4000	LMNA	HP:0003198	Myopathy	HP:0040282	ORPHA:157973
4000	LMNA	HP:0003198	Myopathy	HP:0040281	ORPHA:98855
4000	LMNA	HP:0003198	Myopathy	HP:0040281	ORPHA:98853
4000	LMNA	HP:0003198	Myopathy	HP:0040283	ORPHA:2348
4000	LMNA	HP:0003198	Myopathy	5/5	OMIM:151660
4000	LMNA	HP:0000912	Sprengel anomaly	HP:0040282	ORPHA:98855
4000	LMNA	HP:0000912	Sprengel anomaly	HP:0040282	ORPHA:98853
4000	LMNA	HP:0000926	Platyspondyly	1/7	OMIM:615777
4000	LMNA	HP:0003180	Flat acetabular roof	-	OMIM:615777
4000	LMNA	HP:0000905	Progressive clavicular acroosteolysis	HP:0040283	ORPHA:740
4000	LMNA	HP:0000905	Progressive clavicular acroosteolysis	-	OMIM:248370
4000	LMNA	HP:0000905	Progressive clavicular acroosteolysis	HP:0040281	ORPHA:79474
4000	LMNA	HP:0004482	Relative macrocephaly	HP:0040282	ORPHA:740
4000	LMNA	HP:0004482	Relative macrocephaly	-	OMIM:615777
4000	LMNA	HP:0004492	Widely patent fontanelles and sutures	HP:0040281	ORPHA:1662
4000	LMNA	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4000	LMNA	HP:0003141	Increased LDL cholesterol concentration	25/110	OMIM:151660
4000	LMNA	HP:0003141	Increased LDL cholesterol concentration	HP:0040283	OMIM:616516
4000	LMNA	HP:0003141	Increased LDL cholesterol concentration	HP:0040282	ORPHA:98855
4000	LMNA	HP:0003141	Increased LDL cholesterol concentration	HP:0040282	ORPHA:98853
4000	LMNA	HP:0000883	Thin ribs	HP:0040281	ORPHA:1662
4000	LMNA	HP:0000855	Insulin resistance	HP:0040282	ORPHA:740
4000	LMNA	HP:0000855	Insulin resistance	HP:0040282	ORPHA:90153
4000	LMNA	HP:0000855	Insulin resistance	HP:0040281	ORPHA:280365
4000	LMNA	HP:0000855	Insulin resistance	HP:0040281	ORPHA:79084
4000	LMNA	HP:0000855	Insulin resistance	6/6	OMIM:151660
4000	LMNA	HP:0000855	Insulin resistance	HP:0040281	ORPHA:2348
4000	LMNA	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:280365
4000	LMNA	HP:0000869	Secondary amenorrhea	HP:0040281	ORPHA:79474
4000	LMNA	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:2348
4000	LMNA	HP:0100324	Scleroderma	0/3	OMIM:151660
4000	LMNA	HP:0100324	Scleroderma	1/2	OMIM:619793
4000	LMNA	HP:0100324	Scleroderma	HP:0040281	ORPHA:363618
4000	LMNA	HP:0000831	Insulin-resistant diabetes mellitus	3/3	OMIM:151660
4000	LMNA	HP:0000831	Insulin-resistant diabetes mellitus	-	OMIM:248370
4000	LMNA	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040281	ORPHA:79474
4000	LMNA	HP:0000842	Hyperinsulinemia	-	OMIM:248370
4000	LMNA	HP:0000842	Hyperinsulinemia	HP:0040281	ORPHA:79084
4000	LMNA	HP:0000842	Hyperinsulinemia	4/6	OMIM:151660
4000	LMNA	HP:0000842	Hyperinsulinemia	HP:0040281	ORPHA:79474
4000	LMNA	HP:0012804	Corneal ulceration	HP:0040284	ORPHA:740
4000	LMNA	HP:0000819	Diabetes mellitus	HP:0040281	ORPHA:79084
4000	LMNA	HP:0000819	Diabetes mellitus	HP:0040281	ORPHA:79474
4000	LMNA	HP:0000819	Diabetes mellitus	HP:0040281	ORPHA:280365
4000	LMNA	HP:0000819	Diabetes mellitus	HP:0040281	ORPHA:2348
4000	LMNA	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:212112
4000	LMNA	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:2229
4000	LMNA	HP:0100362	Aplasia of the phalanges of the 3rd toe	HP:0040281	ORPHA:2229
4000	LMNA	HP:0000826	Precocious puberty	HP:0040281	ORPHA:2229
4000	LMNA	HP:0000822	Hypertension	HP:0040283	ORPHA:740
4000	LMNA	HP:0000822	Hypertension	HP:0040281	ORPHA:79084
4000	LMNA	HP:0000822	Hypertension	1/3	OMIM:151660
4000	LMNA	HP:0000822	Hypertension	HP:0040281	ORPHA:79474
4000	LMNA	HP:0000822	Hypertension	HP:0040281	ORPHA:363618
4000	LMNA	HP:0000823	Delayed puberty	-	OMIM:131300
4000	LMNA	HP:0000823	Delayed puberty	HP:0040281	ORPHA:79474
4000	LMNA	HP:0010296	Ankyloglossia	HP:0040282	ORPHA:740
4000	LMNA	HP:0040019	Finger clinodactyly	HP:0040283	ORPHA:79474
4000	LMNA	HP:0010239	Aplasia of the middle phalanx of the hand	-	OMIM:610140
4000	LMNA	HP:0040078	Axonal degeneration	HP:0040281	ORPHA:98856
4000	LMNA	HP:0000894	Short clavicles	2/2	OMIM:619793
4000	LMNA	HP:0000894	Short clavicles	-	OMIM:615777
4000	LMNA	HP:0000894	Short clavicles	-	OMIM:212112
4000	LMNA	HP:0000894	Short clavicles	HP:0040283	ORPHA:740
4000	LMNA	HP:0000894	Short clavicles	9/10	OMIM:248370
4000	LMNA	HP:0010219	Structural foot deformity	HP:0040281	ORPHA:1662
4000	LMNA	HP:0003236	Elevated circulating creatine kinase concentration	13/13	OMIM:181350
4000	LMNA	HP:0003236	Elevated circulating creatine kinase concentration	4/5	OMIM:613205
4000	LMNA	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:98855
4000	LMNA	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:98853
4000	LMNA	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:616516
4000	LMNA	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:280365
4000	LMNA	HP:0003233	Decreased HDL cholesterol concentration	70/119	OMIM:151660
4000	LMNA	HP:0030880	Raynaud phenomenon	HP:0040283	ORPHA:740
4000	LMNA	HP:0040217	Elevated hemoglobin A1c	79/110	OMIM:151660
4000	LMNA	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:157973
4000	LMNA	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4000	LMNA	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:79474
4000	LMNA	HP:0034392	Joint contracture	1/1	OMIM:616516
4000	LMNA	HP:0034391	Elbow contracture	39/41	OMIM:181350
4000	LMNA	HP:0034391	Elbow contracture	4/5	OMIM:613205
4000	LMNA	HP:0003292	Decreased serum leptin	HP:0040282	ORPHA:280365
4000	LMNA	HP:0003292	Decreased serum leptin	HP:0040282	ORPHA:740
4000	LMNA	HP:0003273	Hip contracture	13/41	OMIM:181350
4000	LMNA	HP:0003273	Hip contracture	3/5	OMIM:613205
4000	LMNA	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:1662
4000	LMNA	HP:0030838	Hip pain	HP:0040283	ORPHA:740
4000	LMNA	HP:0000991	Xanthomatosis	HP:0040281	ORPHA:280365
4000	LMNA	HP:0000991	Xanthomatosis	4/4	OMIM:151660
4000	LMNA	HP:0000991	Xanthomatosis	HP:0040282	ORPHA:79084
4000	LMNA	HP:0000991	Xanthomatosis	HP:0040281	ORPHA:2348
4000	LMNA	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4000	LMNA	HP:0000953	Hyperpigmentation of the skin	HP:0040283	ORPHA:90153
4000	LMNA	HP:0000956	Acanthosis nigricans	10/10	OMIM:248370
4000	LMNA	HP:0000956	Acanthosis nigricans	HP:0040282	ORPHA:280365
4000	LMNA	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:79084
4000	LMNA	HP:0000956	Acanthosis nigricans	3/4	OMIM:151660
4000	LMNA	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:2348
4000	LMNA	HP:0000969	Edema	HP:0040282	ORPHA:154
4000	LMNA	HP:0000961	Cyanosis	1/2	OMIM:619793
4000	LMNA	HP:0000961	Cyanosis	HP:0040283	ORPHA:740
4000	LMNA	HP:0000963	Thin skin	HP:0040281	ORPHA:90153
4000	LMNA	HP:0000963	Thin skin	HP:0040281	ORPHA:79474
4000	LMNA	HP:0000963	Thin skin	HP:0040282	ORPHA:280365
4000	LMNA	HP:0000963	Thin skin	HP:0040282	ORPHA:2348
4000	LMNA	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:79474
4000	LMNA	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:1662
4000	LMNA	HP:0000939	Osteoporosis	2/6	OMIM:151660
4000	LMNA	HP:0000939	Osteoporosis	HP:0040281	ORPHA:79474
4000	LMNA	HP:0000938	Osteopenia	1/1	OMIM:248370
4000	LMNA	HP:0000938	Osteopenia	-	OMIM:212112
4000	LMNA	HP:0000938	Osteopenia	HP:0040281	ORPHA:1662
4000	LMNA	HP:0000934	Chondrocalcinosis	HP:0040281	ORPHA:79474
4000	LMNA	HP:0040160	Generalized osteoporosis	-	OMIM:176670
4000	LMNA	HP:0008070	Sparse hair	HP:0040281	ORPHA:1662
4000	LMNA	HP:0008070	Sparse hair	HP:0040281	ORPHA:363618
4000	LMNA	HP:0008064	Ichthyosis	HP:0040283	ORPHA:98855
4000	LMNA	HP:0008064	Ichthyosis	HP:0040283	ORPHA:98853
4000	LMNA	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:280365
4000	LMNA	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:79474
4000	LMNA	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:2348
4000	LMNA	HP:0008069	Neoplasm of the skin	HP:0040282	ORPHA:79474
4000	LMNA	HP:0100295	Muscle fiber atrophy	12/12	OMIM:613205
4000	LMNA	HP:0040189	Scaling skin	HP:0040281	ORPHA:1662
4000	LMNA	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
4000	LMNA	HP:0011675	Arrhythmia	33/33	OMIM:181350
4000	LMNA	HP:0011675	Arrhythmia	HP:0040283	ORPHA:157973
4000	LMNA	HP:0011675	Arrhythmia	-	OMIM:616516
4000	LMNA	HP:0011675	Arrhythmia	HP:0040281	ORPHA:168796
4000	LMNA	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
4000	LMNA	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:79474
4000	LMNA	HP:0000286	Epicanthus	1/7	OMIM:615777
4000	LMNA	HP:0000287	Increased facial adipose tissue	HP:0040282	ORPHA:280365
4000	LMNA	HP:0000287	Increased facial adipose tissue	-	OMIM:248370
4000	LMNA	HP:0000287	Increased facial adipose tissue	1/1	OMIM:151660
4000	LMNA	HP:0000280	Coarse facial features	2/7	OMIM:615777
4000	LMNA	HP:0000278	Retrognathia	-	OMIM:212112
4000	LMNA	HP:0000278	Retrognathia	HP:0040282	ORPHA:740
4000	LMNA	HP:0000293	Full cheeks	1/1	OMIM:248370
4000	LMNA	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:79474
4000	LMNA	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:280365
4000	LMNA	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:2348
4000	LMNA	HP:0001596	Alopecia	-	OMIM:176670
4000	LMNA	HP:0001596	Alopecia	-	OMIM:248370
4000	LMNA	HP:0001596	Alopecia	HP:0040281	ORPHA:90153
4000	LMNA	HP:0001596	Alopecia	0/3	OMIM:151660
4000	LMNA	HP:0001596	Alopecia	HP:0040281	ORPHA:79474
4000	LMNA	HP:0031409	Abnormal lymphocyte physiology	HP:0040283	ORPHA:300751
4000	LMNA	HP:0000275	Narrow face	HP:0040281	ORPHA:79474
4000	LMNA	HP:0000270	Delayed cranial suture closure	9/9	OMIM:248370
4000	LMNA	HP:0000272	Malar flattening	-	OMIM:176670
4000	LMNA	HP:0006467	Limited shoulder movement	HP:0040283	ORPHA:740
4000	LMNA	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:280365
4000	LMNA	HP:0005115	Supraventricular arrhythmia	HP:0040281	ORPHA:168796
4000	LMNA	HP:0005115	Supraventricular arrhythmia	HP:0040282	ORPHA:98855
4000	LMNA	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:98853
4000	LMNA	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:300751
4000	LMNA	HP:0005110	Atrial fibrillation	1/6	OMIM:151660
4000	LMNA	HP:0005110	Atrial fibrillation	19/40	OMIM:115200
4000	LMNA	HP:0005109	Abnormality of the Achilles tendon	HP:0040281	ORPHA:79474
4000	LMNA	HP:0002829	Arthralgia	HP:0040283	ORPHA:90153
4000	LMNA	HP:0002827	Hip dislocation	3/7	OMIM:615777
4000	LMNA	HP:0002827	Hip dislocation	HP:0040282	ORPHA:740
4000	LMNA	HP:0002828	Multiple joint contractures	HP:0040281	ORPHA:1662
4000	LMNA	HP:0030084	Clinodactyly	-	OMIM:610140
4000	LMNA	HP:0002808	Kyphosis	HP:0040283	ORPHA:98855
4000	LMNA	HP:0002808	Kyphosis	HP:0040283	ORPHA:98853
4000	LMNA	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:1662
4000	LMNA	HP:0006391	Overtubulated long bones	1/2	OMIM:619793
4000	LMNA	HP:0000239	Large fontanelles	HP:0040281	ORPHA:90153
4000	LMNA	HP:0000252	Microcephaly	-	OMIM:615777
4000	LMNA	HP:0031329	Interstitial cardiac fibrosis	1/1	OMIM:181350
4000	LMNA	HP:0000218	High palate	HP:0040282	ORPHA:740
4000	LMNA	HP:0000218	High palate	HP:0040283	ORPHA:90153
4000	LMNA	HP:0000218	High palate	-	OMIM:248370
4000	LMNA	HP:0001544	Prominent umbilicus	HP:0040281	ORPHA:740
4000	LMNA	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
4000	LMNA	HP:0002875	Exertional dyspnea	1/1	OMIM:181350
4000	LMNA	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:740
4000	LMNA	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:1662
4000	LMNA	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:79474
4000	LMNA	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:740
4000	LMNA	HP:0030002	Nocturnal lagophthalmos	HP:0040283	ORPHA:740
4000	LMNA	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:157973
4000	LMNA	HP:0001558	Decreased fetal movement	3/15	OMIM:613205
4000	LMNA	HP:0001558	Decreased fetal movement	1/2	OMIM:619793
4000	LMNA	HP:0001558	Decreased fetal movement	HP:0040281	ORPHA:1662
4000	LMNA	HP:0025502	Overweight	42/102	OMIM:151660
4000	LMNA	HP:0000200	Short lingual frenulum	HP:0040282	ORPHA:740
4000	LMNA	HP:0002858	Meningioma	HP:0040282	ORPHA:79474
4000	LMNA	HP:0001525	Severe failure to thrive	HP:0040281	ORPHA:740
4000	LMNA	HP:0002857	Genu valgum	-	OMIM:131300
4000	LMNA	HP:0001522	Death in infancy	HP:0040283	ORPHA:157973
4000	LMNA	HP:0001533	Slender build	-	OMIM:131300
4000	LMNA	HP:0001508	Failure to thrive	-	OMIM:613205
4000	LMNA	HP:0001508	Failure to thrive	0/3	OMIM:151660
4000	LMNA	HP:0001508	Failure to thrive	HP:0040281	ORPHA:79474
4000	LMNA	HP:0030053	Stiff skin	HP:0040280	ORPHA:1662
4000	LMNA	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:98855
4000	LMNA	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:98853
4000	LMNA	HP:0001511	Intrauterine growth retardation	1/2	OMIM:619793
4000	LMNA	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4000	LMNA	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:1662
4000	LMNA	HP:0001510	Growth delay	9/9	OMIM:248370
4000	LMNA	HP:0001510	Growth delay	-	OMIM:176670
4000	LMNA	HP:0001513	Obesity	HP:0040283	ORPHA:98855
4000	LMNA	HP:0001513	Obesity	HP:0040283	ORPHA:98853
4000	LMNA	HP:0001513	Obesity	21/103	OMIM:151660
4000	LMNA	HP:0007807	Optic nerve compression	-	OMIM:131300
4000	LMNA	HP:0011079	Impacted tooth	HP:0040283	ORPHA:740
4000	LMNA	HP:0012397	Aortic atherosclerotic lesion	HP:0040281	ORPHA:363618
4000	LMNA	HP:0012378	Fatigue	HP:0040282	ORPHA:154
4000	LMNA	HP:0012378	Fatigue	7/7	OMIM:181350
4000	LMNA	HP:0012385	Camptodactyly	1/1	OMIM:248370
4000	LMNA	HP:0012368	Flat face	7/7	OMIM:615777
4000	LMNA	HP:0011040	Abnormal intrahepatic bile duct morphology	HP:0040281	ORPHA:363618
4000	LMNA	HP:0005253	Increased anterioposterior diameter of thorax	HP:0040281	ORPHA:1662
4000	LMNA	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	HP:0040281	ORPHA:1662
4000	LMNA	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:79474
4000	LMNA	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4000	LMNA	HP:0002936	Distal sensory impairment	-	OMIM:605588
4000	LMNA	HP:0002936	Distal sensory impairment	HP:0040281	ORPHA:98856
4000	LMNA	HP:0001605	Vocal cord paralysis	HP:0040284	ORPHA:98853
4000	LMNA	HP:0001601	Laryngomalacia	HP:0040281	ORPHA:79474
4000	LMNA	HP:0002942	Thoracic kyphosis	1/41	OMIM:181350
4000	LMNA	HP:0005177	Premature arteriosclerosis	HP:0040281	ORPHA:79474
4000	LMNA	HP:0005181	Premature coronary artery atherosclerosis	9/115	OMIM:151660
4000	LMNA	HP:0005181	Premature coronary artery atherosclerosis	-	OMIM:176670
4000	LMNA	HP:0005155	Ventricular escape rhythm	HP:0040282	ORPHA:98855
4000	LMNA	HP:0005155	Ventricular escape rhythm	HP:0040284	ORPHA:98853
4000	LMNA	HP:0005150	Abnormal atrioventricular conduction	HP:0040283	ORPHA:280365
4000	LMNA	HP:0005150	Abnormal atrioventricular conduction	HP:0040281	ORPHA:168796
4000	LMNA	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:300751
4000	LMNA	HP:0005162	Abnormal left ventricular function	9/36	OMIM:181350
4000	LMNA	HP:0006480	Premature loss of teeth	-	OMIM:248370
4000	LMNA	HP:0000365	Hearing impairment	HP:0040283	ORPHA:90153
4000	LMNA	HP:0000365	Hearing impairment	10/67	OMIM:131300
4000	LMNA	HP:0001688	Sinus bradycardia	4/40	OMIM:115200
4000	LMNA	HP:0001698	Pericardial effusion	HP:0040283	ORPHA:300751
4000	LMNA	HP:0001698	Pericardial effusion	-	OMIM:115200
4000	LMNA	HP:0000369	Low-set ears	HP:0040281	ORPHA:1662
4000	LMNA	HP:0030117	Absent muscle fiber emerin	HP:0040282	ORPHA:98855
4000	LMNA	HP:0030117	Absent muscle fiber emerin	HP:0040282	ORPHA:98853
4000	LMNA	HP:0000343	Long philtrum	1/7	OMIM:615777
4000	LMNA	HP:0011001	Increased bone mineral density	-	OMIM:131300
4000	LMNA	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:79474
4000	LMNA	HP:0001669	Transposition of the great arteries	HP:0040283	ORPHA:1662
4000	LMNA	HP:0001664	Torsade de pointes	1/46	OMIM:115000
4000	LMNA	HP:0001681	Angina pectoris	-	OMIM:176670
4000	LMNA	HP:0001681	Angina pectoris	HP:0040284	ORPHA:740
4000	LMNA	HP:0001678	Atrioventricular block	2/118	OMIM:151660
4000	LMNA	HP:0001678	Atrioventricular block	HP:0040282	ORPHA:98855
4000	LMNA	HP:0001678	Atrioventricular block	HP:0040283	ORPHA:98853
4000	LMNA	HP:0000347	Micrognathia	HP:0040281	ORPHA:280365
4000	LMNA	HP:0000347	Micrognathia	HP:0040281	ORPHA:740
4000	LMNA	HP:0000347	Micrognathia	0/3	OMIM:151660
4000	LMNA	HP:0000347	Micrognathia	HP:0040281	ORPHA:1662
4000	LMNA	HP:0000347	Micrognathia	10/10	OMIM:248370
4000	LMNA	HP:0000347	Micrognathia	-	OMIM:176670
4000	LMNA	HP:0000347	Micrognathia	HP:0040281	ORPHA:79474
4000	LMNA	HP:0001677	Coronary artery atherosclerosis	HP:0040283	ORPHA:280365
4000	LMNA	HP:0001677	Coronary artery atherosclerosis	HP:0040283	ORPHA:79084
4000	LMNA	HP:0001677	Coronary artery atherosclerosis	HP:0040281	ORPHA:363618
4000	LMNA	HP:0001677	Coronary artery atherosclerosis	HP:0040281	ORPHA:79474
4000	LMNA	HP:0001677	Coronary artery atherosclerosis	HP:0040283	ORPHA:2348
4000	LMNA	HP:0001650	Aortic valve stenosis	HP:0040282	ORPHA:79474
4000	LMNA	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:740
4000	LMNA	HP:0001650	Aortic valve stenosis	HP:0040281	ORPHA:363618
4000	LMNA	HP:0000320	Bird-like facies	-	OMIM:248370
4000	LMNA	HP:0001651	Dextrocardia	HP:0040283	ORPHA:1662
4000	LMNA	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1662
4000	LMNA	HP:0001646	Abnormal aortic valve morphology	HP:0040282	ORPHA:740
4000	LMNA	HP:0001643	Patent ductus arteriosus	HP:0040281	ORPHA:1662
4000	LMNA	HP:0000311	Round face	2/7	OMIM:615777
4000	LMNA	HP:0000311	Round face	-	OMIM:151660
4000	LMNA	HP:0000311	Round face	HP:0040282	ORPHA:280365
4000	LMNA	HP:0000311	Round face	HP:0040281	ORPHA:2348
4000	LMNA	HP:0001645	Sudden cardiac death	HP:0040282	ORPHA:300751
4000	LMNA	HP:0001645	Sudden cardiac death	-	OMIM:181350
4000	LMNA	HP:0001645	Sudden cardiac death	-	OMIM:115000
4000	LMNA	HP:0001645	Sudden cardiac death	9/40	OMIM:115200
4000	LMNA	HP:0001645	Sudden cardiac death	HP:0040282	ORPHA:98855
4000	LMNA	HP:0001645	Sudden cardiac death	HP:0040284	ORPHA:98853
4000	LMNA	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
4000	LMNA	HP:0001644	Dilated cardiomyopathy	-	OMIM:181350
4000	LMNA	HP:0001644	Dilated cardiomyopathy	-	OMIM:610140
4000	LMNA	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:98855
4000	LMNA	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:2229
4000	LMNA	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:98853
4000	LMNA	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:300751
4000	LMNA	HP:0001644	Dilated cardiomyopathy	-	OMIM:212112
4000	LMNA	HP:0001644	Dilated cardiomyopathy	3/101	OMIM:151660
4000	LMNA	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:168796
4000	LMNA	HP:0001644	Dilated cardiomyopathy	27/40	OMIM:115200
4000	LMNA	HP:0001663	Ventricular fibrillation	-	OMIM:115000
4000	LMNA	HP:0000331	Short chin	HP:0040283	ORPHA:740
4000	LMNA	HP:0000331	Short chin	1/1	OMIM:212112
4000	LMNA	HP:0001658	Myocardial infarction	-	OMIM:176670
4000	LMNA	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:740
4000	LMNA	HP:0001657	Prolonged QT interval	1/6	OMIM:151660
4000	LMNA	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:740
4000	LMNA	HP:0002987	Elbow flexion contracture	1/1	OMIM:248370
4000	LMNA	HP:0002987	Elbow flexion contracture	-	OMIM:616516
4000	LMNA	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:98855
4000	LMNA	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:98853
4000	LMNA	HP:0001653	Mitral regurgitation	1/1	OMIM:212112
4000	LMNA	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:740
4000	LMNA	HP:0001653	Mitral regurgitation	HP:0040281	ORPHA:363618
4000	LMNA	HP:0001620	Abnormally high-pitched voice	HP:0040282	ORPHA:740
4000	LMNA	HP:0001622	Premature birth	HP:0040281	ORPHA:1662
4000	LMNA	HP:0002970	Genu varum	-	OMIM:615777
4000	LMNA	HP:0000308	Microretrognathia	1/2	OMIM:619793
4000	LMNA	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:280365
4000	LMNA	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:98853
4000	LMNA	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:2348
4000	LMNA	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
4000	LMNA	HP:0001635	Congestive heart failure	-	OMIM:176670
4000	LMNA	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:280365
4000	LMNA	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:157973
4000	LMNA	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:2348
4000	LMNA	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:300751
4000	LMNA	HP:0001635	Congestive heart failure	2/6	OMIM:151660
4000	LMNA	HP:0001635	Congestive heart failure	HP:0040281	ORPHA:79474
4000	LMNA	HP:0001635	Congestive heart failure	-	OMIM:115200
4000	LMNA	HP:0001635	Congestive heart failure	HP:0040281	ORPHA:363618
4000	LMNA	HP:0001638	Cardiomyopathy	1/1	OMIM:212112
4000	LMNA	HP:0001638	Cardiomyopathy	1/4	OMIM:151660
4000	LMNA	HP:0001637	Abnormal myocardium morphology	HP:0040282	ORPHA:300751
4000	LMNA	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1662
4000	LMNA	HP:0000303	Mandibular prognathia	-	OMIM:131300
4000	LMNA	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:79474
4000	LMNA	HP:0001633	Abnormal mitral valve morphology	HP:0040282	ORPHA:740
4000	LMNA	HP:0007957	Corneal opacity	HP:0040283	ORPHA:740
4000	LMNA	HP:0031610	Recurrent shoulder dislocation	1/1	OMIM:212112
4000	LMNA	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
4000	LMNA	HP:0032989	Delayed ability to roll over	2/2	OMIM:613205
4000	LMNA	HP:0012478	Temporomandibular joint ankylosis	HP:0040281	ORPHA:1662
4000	LMNA	HP:0004054	Sclerosis of hand bone	HP:0040281	ORPHA:79474
4000	LMNA	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
4000	LMNA	HP:0006671	Paroxysmal atrial tachycardia	2/15	OMIM:613205
4000	LMNA	HP:0005328	Progeroid facial appearance	HP:0040281	ORPHA:280365
4000	LMNA	HP:0005328	Progeroid facial appearance	2/9	OMIM:151660
4000	LMNA	HP:0005328	Progeroid facial appearance	HP:0040281	ORPHA:79474
4000	LMNA	HP:0005328	Progeroid facial appearance	HP:0040281	ORPHA:90153
4000	LMNA	HP:0005339	Abnormality of complement system	HP:0040283	ORPHA:2348
4000	LMNA	HP:0006645	Thin clavicles	HP:0040281	ORPHA:1662
4000	LMNA	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
4000	LMNA	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
4000	LMNA	HP:0001735	Acute pancreatitis	HP:0040282	OMIM:151660
4000	LMNA	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:740
4000	LMNA	HP:0001733	Pancreatitis	HP:0040283	ORPHA:280365
4000	LMNA	HP:0001733	Pancreatitis	HP:0040283	ORPHA:79084
4000	LMNA	HP:0001733	Pancreatitis	18/117	OMIM:151660
4000	LMNA	HP:0001733	Pancreatitis	HP:0040283	ORPHA:2348
4000	LMNA	HP:0001709	Third degree atrioventricular block	5/40	OMIM:115200
4000	LMNA	HP:0001718	Mitral stenosis	HP:0040283	ORPHA:740
4000	LMNA	HP:0001714	Ventricular hypertrophy	HP:0040283	ORPHA:740
4000	LMNA	HP:0001714	Ventricular hypertrophy	HP:0040281	ORPHA:363618
4000	LMNA	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4000	LMNA	HP:0031546	Cardiac conduction abnormality	HP:0040281	ORPHA:300751
4000	LMNA	HP:0012474	Carotid artery occlusion	HP:0040283	ORPHA:740
4000	LMNA	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:1662
4000	LMNA	HP:0030237	Hand muscle weakness	HP:0040282	ORPHA:98856
4000	LMNA	HP:0030234	Highly elevated creatine kinase	16/31	OMIM:181350
4000	LMNA	HP:0000460	Narrow nose	1/1	OMIM:212112
4000	LMNA	HP:0000470	Short neck	1/7	OMIM:615777
4000	LMNA	HP:0000465	Webbed neck	HP:0040283	ORPHA:1662
4000	LMNA	HP:0000468	Increased adipose tissue around the neck	HP:0040282	ORPHA:280365
4000	LMNA	HP:0000468	Increased adipose tissue around the neck	-	OMIM:248370
4000	LMNA	HP:0000468	Increased adipose tissue around the neck	-	OMIM:151660
4000	LMNA	HP:0001799	Short nail	HP:0040283	ORPHA:1662
4000	LMNA	HP:0000467	Neck muscle weakness	12/15	OMIM:613205
4000	LMNA	HP:0001771	Achilles tendon contracture	40/42	OMIM:181350
4000	LMNA	HP:0001771	Achilles tendon contracture	1/6	OMIM:151660
4000	LMNA	HP:0001771	Achilles tendon contracture	4/5	OMIM:613205
4000	LMNA	HP:0001771	Achilles tendon contracture	HP:0040282	ORPHA:98855
4000	LMNA	HP:0001771	Achilles tendon contracture	HP:0040282	ORPHA:98853
4000	LMNA	HP:0000436	Abnormal nasal tip morphology	HP:0040282	ORPHA:740
4000	LMNA	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4000	LMNA	HP:0001763	Pes planus	1/7	OMIM:615777
4000	LMNA	HP:0001763	Pes planus	HP:0040281	ORPHA:79474
4000	LMNA	HP:0001765	Hammertoe	HP:0040282	ORPHA:98856
4000	LMNA	HP:0000453	Choanal atresia	HP:0040283	ORPHA:1662
4000	LMNA	HP:0000444	Convex nasal ridge	1/2	OMIM:619793
4000	LMNA	HP:0000444	Convex nasal ridge	1/1	OMIM:248370
4000	LMNA	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:79474
4000	LMNA	HP:0000444	Convex nasal ridge	HP:0040283	ORPHA:740
4000	LMNA	HP:0000418	Narrow nasal ridge	HP:0040281	ORPHA:280365
4000	LMNA	HP:0000418	Narrow nasal ridge	HP:0040282	ORPHA:740
4000	LMNA	HP:0000418	Narrow nasal ridge	-	OMIM:248370
4000	LMNA	HP:0001744	Splenomegaly	HP:0040283	ORPHA:280365
4000	LMNA	HP:0001744	Splenomegaly	HP:0040283	ORPHA:2348
4000	LMNA	HP:0001744	Splenomegaly	2/2	OMIM:151660
4000	LMNA	HP:0001760	Abnormal foot morphology	HP:0040281	ORPHA:168796
4000	LMNA	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:98856
4000	LMNA	HP:0001762	Talipes equinovarus	3/41	OMIM:181350
4000	LMNA	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:2229
4000	LMNA	HP:0001761	Pes cavus	2/41	OMIM:181350
4000	LMNA	HP:0001761	Pes cavus	HP:0040282	ORPHA:98856
4000	LMNA	HP:0001761	Pes cavus	-	OMIM:605588
4000	LMNA	HP:0025708	Early young adult onset	1/1	OMIM:181350
4000	LMNA	HP:0001757	High-frequency sensorineural hearing impairment	HP:0040283	ORPHA:740
4000	LMNA	HP:0006739	Squamous cell carcinoma of the skin	HP:0040281	ORPHA:363618
4000	LMNA	HP:0006710	Aplasia/Hypoplasia of the clavicles	HP:0040281	ORPHA:1662
4000	LMNA	HP:0006710	Aplasia/Hypoplasia of the clavicles	HP:0040281	ORPHA:90153
4000	LMNA	HP:0030445	Pulmonary carcinoid tumor	HP:0040281	ORPHA:363618
4000	LMNA	HP:0005461	Craniofacial disproportion	HP:0040282	ORPHA:740
4000	LMNA	HP:0006785	Limb-girdle muscular dystrophy	-	OMIM:181350
4000	LMNA	HP:0006785	Limb-girdle muscular dystrophy	HP:0040281	ORPHA:98855
4000	LMNA	HP:0006785	Limb-girdle muscular dystrophy	HP:0040281	ORPHA:98853
4000	LMNA	HP:0006766	Papillary renal cell carcinoma	HP:0040281	ORPHA:363618
4000	LMNA	HP:0000518	Cataract	HP:0040283	ORPHA:90153
4000	LMNA	HP:0000519	Developmental cataract	HP:0040283	ORPHA:79474
4000	LMNA	HP:0001840	Metatarsus adductus	-	OMIM:615777
4000	LMNA	HP:0000520	Proptosis	-	OMIM:248370
4000	LMNA	HP:0000520	Proptosis	2/4	OMIM:131300
4000	LMNA	HP:0000520	Proptosis	2/2	OMIM:619793
4000	LMNA	HP:0000520	Proptosis	HP:0040282	ORPHA:90153
4000	LMNA	HP:0000520	Proptosis	7/7	OMIM:615777
4000	LMNA	HP:0000520	Proptosis	0/3	OMIM:151660
4000	LMNA	HP:0001824	Weight loss	HP:0040281	ORPHA:740
4000	LMNA	HP:0001838	Rocker bottom foot	HP:0040281	ORPHA:79474
4000	LMNA	HP:0000506	Telecanthus	HP:0040281	ORPHA:1662
4000	LMNA	HP:0000508	Ptosis	HP:0040283	OMIM:212112
4000	LMNA	HP:0000508	Ptosis	HP:0040281	ORPHA:2229
4000	LMNA	HP:0000508	Ptosis	HP:0040283	ORPHA:98853
4000	LMNA	HP:0001808	Fragile nails	HP:0040281	ORPHA:79474
4000	LMNA	HP:0001805	Onychogryphosis	1/1	OMIM:248370
4000	LMNA	HP:0001810	Dystrophic toenail	HP:0040282	ORPHA:740
4000	LMNA	HP:0012592	Albuminuria	3/6	OMIM:151660
4000	LMNA	HP:0012569	Delayed menarche	HP:0040282	ORPHA:740
4000	LMNA	HP:0000592	Blue sclerae	2/7	OMIM:615777
4000	LMNA	HP:0011227	Elevated circulating C-reactive protein concentration	4/6	OMIM:151660
4000	LMNA	HP:0000586	Shallow orbits	HP:0040282	ORPHA:740
4000	LMNA	HP:0000561	Absent eyelashes	HP:0040281	ORPHA:363618
4000	LMNA	HP:0000561	Absent eyelashes	HP:0040283	ORPHA:90153
4000	LMNA	HP:0001870	Acroosteolysis of distal phalanges (feet)	HP:0040282	ORPHA:280365
4000	LMNA	HP:0001870	Acroosteolysis of distal phalanges (feet)	9/9	OMIM:248370
4000	LMNA	HP:0001870	Acroosteolysis of distal phalanges (feet)	HP:0040281	ORPHA:90153
4000	LMNA	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4000	LMNA	HP:0000534	Abnormal eyebrow morphology	HP:0040282	ORPHA:90153
4000	LMNA	HP:0001883	Talipes	HP:0040283	ORPHA:157973
4000	LMNA	HP:0001883	Talipes	3/15	OMIM:613205
4000	LMNA	HP:0012514	Lower limb pain	4/4	OMIM:131300
4000	LMNA	HP:0000546	Retinal degeneration	HP:0040282	ORPHA:79474
4001	LMNB1	HP:0002493	Upper motor neuron dysfunction	HP:0040282	ORPHA:99027
4001	LMNB1	HP:0001137	Alternating esotropia	HP:0040282	ORPHA:2514
4001	LMNB1	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:99027
4001	LMNB1	HP:0009879	Simplified gyral pattern	4/9	OMIM:619179
4001	LMNB1	HP:0001276	Hypertonia	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0001278	Orthostatic hypotension	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0002599	Head titubation	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:99027
4001	LMNB1	HP:0001285	Spastic tetraparesis	2/7	OMIM:619179
4001	LMNB1	HP:0001250	Seizure	7/13	OMIM:619179
4001	LMNB1	HP:0001251	Ataxia	HP:0040281	ORPHA:99027
4001	LMNB1	HP:0001260	Dysarthria	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0001263	Global developmental delay	13/13	OMIM:619179
4001	LMNB1	HP:0001257	Spasticity	HP:0040282	ORPHA:99027
4001	LMNB1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0007377	Abnormality of somatosensory evoked potentials	HP:0040282	ORPHA:99027
4001	LMNB1	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0007366	Atrophy/Degeneration affecting the brainstem	HP:0040282	ORPHA:99027
4001	LMNB1	HP:0007369	Atrophy/Degeneration affecting the cerebrum	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0007351	Upper limb postural tremor	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0000016	Urinary retention	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:99027
4001	LMNB1	HP:0007480	Decreased sweating due to autonomic dysfunction	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:99027
4001	LMNB1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0001344	Absent speech	2/7	OMIM:619179
4001	LMNB1	HP:0000012	Urinary urgency	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0001337	Tremor	HP:0040282	ORPHA:99027
4001	LMNB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619179
4001	LMNB1	HP:0001310	Dysmetria	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0001302	Pachygyria	1/6	OMIM:619179
4001	LMNB1	HP:0002650	Scoliosis	4/7	OMIM:619179
4001	LMNB1	HP:0012171	Stereotypical hand wringing	1/6	OMIM:619179
4001	LMNB1	HP:0008936	Axial hypotonia	2/7	OMIM:619179
4001	LMNB1	HP:0000126	Hydronephrosis	1/6	OMIM:619179
4001	LMNB1	HP:0002019	Constipation	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0003326	Myalgia	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0002015	Dysphagia	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0005968	Temperature instability	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0002080	Intention tremor	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:99027
4001	LMNB1	HP:0002064	Spastic gait	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0002079	Hypoplasia of the corpus callosum	1/6	OMIM:619179
4001	LMNB1	HP:0002075	Dysdiadochokinesis	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0002045	Hypothermia	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0003487	Babinski sign	HP:0040282	ORPHA:99027
4001	LMNB1	HP:0002119	Ventriculomegaly	1/3	OMIM:619179
4001	LMNB1	HP:0011931	Abnormal cerebellar peduncle morphology	HP:0040282	ORPHA:99027
4001	LMNB1	HP:0002169	Clonus	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0003593	Infantile onset	2/6	OMIM:619179
4001	LMNB1	HP:0002273	Tetraparesis	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0100704	Cerebral visual impairment	3/7	OMIM:619179
4001	LMNB1	HP:0002200	Pseudobulbar signs	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0011968	Feeding difficulties	5/7	OMIM:619179
4001	LMNB1	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/6	OMIM:619179
4001	LMNB1	HP:0002345	Action tremor	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0010845	EEG with generalized slow activity	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0010831	Impaired proprioception	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0010808	Protruding tongue	1/7	OMIM:619179
4001	LMNB1	HP:0009804	Tooth agenesis	HP:0040281	ORPHA:2514
4001	LMNB1	HP:0100639	Erectile dysfunction	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0006827	Atrophy of the spinal cord	HP:0040282	ORPHA:99027
4001	LMNB1	HP:0006886	Impaired distal vibration sensation	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0000639	Nystagmus	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0000637	Long palpebral fissure	1/6	OMIM:619179
4001	LMNB1	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:2514
4001	LMNB1	HP:0006989	Dysplastic corpus callosum	2/6	OMIM:619179
4001	LMNB1	HP:0004322	Short stature	6/7	OMIM:619179
4001	LMNB1	HP:0004322	Short stature	HP:0040281	ORPHA:2514
4001	LMNB1	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0006958	Abnormal auditory evoked potentials	HP:0040282	ORPHA:99027
4001	LMNB1	HP:0030674	Antenatal onset	4/6	OMIM:619179
4001	LMNB1	HP:0000802	Impotence	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0004395	Malnutrition	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0031936	Delayed ability to walk	3/3	OMIM:619179
4001	LMNB1	HP:0000750	Delayed speech and language development	5/6	OMIM:619179
4001	LMNB1	HP:0000726	Dementia	HP:0040284	ORPHA:99027
4001	LMNB1	HP:0000708	Atypical behavior	HP:0040284	ORPHA:99027
4001	LMNB1	HP:0003196	Short nose	1/7	OMIM:619179
4001	LMNB1	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040282	ORPHA:99027
4001	LMNB1	HP:0000970	Anhidrosis	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0000243	Trigonocephaly	1/7	OMIM:619179
4001	LMNB1	HP:0000252	Microcephaly	13/13	OMIM:619179
4001	LMNB1	HP:0000252	Microcephaly	HP:0040281	ORPHA:2514
4001	LMNB1	HP:0000212	Gingival overgrowth	2/7	OMIM:619179
4001	LMNB1	HP:0001508	Failure to thrive	2/6	OMIM:619179
4001	LMNB1	HP:0006532	Recurrent pneumonia	3/7	OMIM:619179
4001	LMNB1	HP:0002936	Distal sensory impairment	HP:0040282	ORPHA:99027
4001	LMNB1	HP:0002922	Increased CSF protein concentration	HP:0040284	ORPHA:99027
4001	LMNB1	HP:0000341	Narrow forehead	1/7	OMIM:619179
4001	LMNB1	HP:0000343	Long philtrum	1/7	OMIM:619179
4001	LMNB1	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040281	ORPHA:99027
4001	LMNB1	HP:0000316	Hypertelorism	1/6	OMIM:619179
4001	LMNB1	HP:0001655	Patent foramen ovale	1/7	OMIM:619179
4001	LMNB1	HP:0000307	Pointed chin	1/6	OMIM:619179
4001	LMNB1	HP:0005341	Autonomic bladder dysfunction	HP:0040282	ORPHA:99027
4001	LMNB1	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:99027
4001	LMNB1	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:99027
4001	LMNB1	HP:0012450	Chronic constipation	1/6	OMIM:619179
4001	LMNB1	HP:0000411	Protruding ear	HP:0040283	ORPHA:2514
4001	LMNB1	HP:0000431	Wide nasal bridge	1/6	OMIM:619179
4001	LMNB1	HP:0000426	Prominent nasal bridge	1/7	OMIM:619179
4001	LMNB1	HP:0000582	Upslanted palpebral fissure	1/7	OMIM:619179
4001	LMNB1	HP:0011231	Prominent eyelashes	1/7	OMIM:619179
4001	LMNB1	HP:0012510	Extra-axial cerebrospinal fluid accumulation	1/3	OMIM:619179
4004	LMO1	HP:0001251	Ataxia	HP:0040284	ORPHA:635
4004	LMO1	HP:0001336	Myoclonus	HP:0040284	ORPHA:635
4004	LMO1	HP:0002653	Bone pain	HP:0040283	ORPHA:635
4004	LMO1	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:635
4004	LMO1	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:635
4004	LMO1	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:635
4004	LMO1	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:635
4004	LMO1	HP:0002028	Chronic diarrhea	HP:0040282	ORPHA:635
4004	LMO1	HP:0003334	Elevated circulating catecholamine level	HP:0040282	ORPHA:635
4004	LMO1	HP:0002098	Respiratory distress	HP:0040283	ORPHA:635
4004	LMO1	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:635
4004	LMO1	HP:0010543	Opsoclonus	HP:0040284	ORPHA:635
4004	LMO1	HP:0002277	Horner syndrome	HP:0040283	ORPHA:635
4004	LMO1	HP:0011976	Elevated urinary catecholamine level	HP:0040281	ORPHA:635
4004	LMO1	HP:0011977	Elevated urinary homovanillic acid	HP:0040283	ORPHA:635
4004	LMO1	HP:0011978	Elevated urinary vanillylmandelic acid	HP:0040283	ORPHA:635
4004	LMO1	HP:0001017	Anemic pallor	HP:0040283	ORPHA:635
4004	LMO1	HP:0001945	Fever	HP:0040282	ORPHA:635
4004	LMO1	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:635
4004	LMO1	HP:0001903	Anemia	HP:0040282	ORPHA:635
4004	LMO1	HP:0031955	Antalgic gait	HP:0040283	ORPHA:635
4004	LMO1	HP:0004375	Neoplasm of the nervous system	HP:0040281	ORPHA:635
4004	LMO1	HP:0003006	Neuroblastoma	HP:0040281	ORPHA:635
4004	LMO1	HP:0000737	Irritability	HP:0040283	ORPHA:635
4004	LMO1	HP:0000822	Hypertension	HP:0040284	ORPHA:635
4004	LMO1	HP:0003270	Abdominal distention	HP:0040282	ORPHA:635
4004	LMO1	HP:0003281	Increased circulating ferritin concentration	HP:0040283	ORPHA:635
4004	LMO1	HP:0025553	Periorbital ecchymosis with tarsal plate sparing	HP:0040284	ORPHA:635
4004	LMO1	HP:0031500	Abdominal mass	HP:0040282	ORPHA:635
4004	LMO1	HP:0012378	Fatigue	HP:0040282	ORPHA:635
4004	LMO1	HP:0000520	Proptosis	HP:0040283	ORPHA:635
4004	LMO1	HP:0001824	Weight loss	HP:0040282	ORPHA:635
4004	LMO1	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:635
4004	LMO1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:635
4007	PRICKLE3	HP:0001112	Leber optic atrophy	-	OMIM:308905
4007	PRICKLE3	HP:0001417	X-linked inheritance	-	OMIM:308905
4007	PRICKLE3	HP:0000648	Optic atrophy	-	OMIM:308905
4009	LMX1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:601412
4009	LMX1A	HP:0005101	High-frequency hearing impairment	-	OMIM:601412
4010	LMX1B	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0003774	Stage 5 chronic kidney disease	5/13	OMIM:256020
4010	LMX1B	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0010886	Osteochondritis dissecans	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0009890	High anterior hairline	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:495818
4010	LMX1B	HP:0002414	Spina bifida	-	OMIM:161200
4010	LMX1B	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4010	LMX1B	HP:0001293	Cranial nerve compression	-	OMIM:131300
4010	LMX1B	HP:0001270	Motor delay	HP:0040281	ORPHA:495818
4010	LMX1B	HP:0100820	Glomerulopathy	HP:0040281	ORPHA:2613
4010	LMX1B	HP:0001285	Spastic tetraparesis	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0001250	Seizure	HP:0040281	ORPHA:495818
4010	LMX1B	HP:0001250	Seizure	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0001252	Hypotonia	2/7	OMIM:615777
4010	LMX1B	HP:0001249	Intellectual disability	5/7	OMIM:615777
4010	LMX1B	HP:0002597	Abnormality of the vasculature	HP:0040284	ORPHA:2614
4010	LMX1B	HP:0001263	Global developmental delay	-	OMIM:615777
4010	LMX1B	HP:0002540	Inability to walk	HP:0040282	ORPHA:495818
4010	LMX1B	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:495818
4010	LMX1B	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0002515	Waddling gait	54/102	OMIM:131300
4010	LMX1B	HP:0031006	Acroparesthesia	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0000083	Renal insufficiency	HP:0040281	ORPHA:2613
4010	LMX1B	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0000083	Renal insufficiency	-	OMIM:161200
4010	LMX1B	HP:0000083	Renal insufficiency	-	OMIM:256020
4010	LMX1B	HP:0000099	Glomerulonephritis	-	OMIM:161200
4010	LMX1B	HP:0000097	Focal segmental glomerulosclerosis	5/8	OMIM:256020
4010	LMX1B	HP:0000093	Proteinuria	HP:0040281	ORPHA:2613
4010	LMX1B	HP:0000093	Proteinuria	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0000093	Proteinuria	-	OMIM:161200
4010	LMX1B	HP:0000093	Proteinuria	-	OMIM:256020
4010	LMX1B	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:2614
4010	LMX1B	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0000046	Small scrotum	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0001377	Limited elbow extension	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0001377	Limited elbow extension	167/240	OMIM:161200
4010	LMX1B	HP:0001371	Flexion contracture	HP:0040282	ORPHA:2614
4010	LMX1B	HP:0001369	Arthritis	HP:0040282	ORPHA:2614
4010	LMX1B	HP:0000054	Micropenis	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0001382	Joint hypermobility	-	OMIM:615777
4010	LMX1B	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4010	LMX1B	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:495818
4010	LMX1B	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4010	LMX1B	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4010	LMX1B	HP:0001324	Muscle weakness	40/96	OMIM:131300
4010	LMX1B	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4010	LMX1B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4010	LMX1B	HP:0000007	Autosomal recessive inheritance	-	OMIM:256020
4010	LMX1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:161200
4010	LMX1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4010	LMX1B	HP:0003997	Hypoplastic radial head	-	OMIM:161200
4010	LMX1B	HP:0002650	Scoliosis	-	OMIM:161200
4010	LMX1B	HP:0002650	Scoliosis	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0002650	Scoliosis	12/14	OMIM:131300
4010	LMX1B	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4010	LMX1B	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4010	LMX1B	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4010	LMX1B	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4010	LMX1B	HP:0000160	Narrow mouth	HP:0040282	ORPHA:495818
4010	LMX1B	HP:0000175	Cleft palate	-	OMIM:161200
4010	LMX1B	HP:0000175	Cleft palate	2/7	OMIM:615777
4010	LMX1B	HP:0008936	Axial hypotonia	HP:0040281	ORPHA:495818
4010	LMX1B	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0000123	Nephritis	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0012108	Open angle glaucoma	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0000100	Nephrotic syndrome	-	OMIM:161200
4010	LMX1B	HP:0002019	Constipation	HP:0040282	ORPHA:2614
4010	LMX1B	HP:0002019	Constipation	HP:0040282	ORPHA:495818
4010	LMX1B	HP:0002003	Large forehead	HP:0040281	ORPHA:495818
4010	LMX1B	HP:0002015	Dysphagia	HP:0040281	ORPHA:495818
4010	LMX1B	HP:0003304	Spondylolysis	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0003302	Spondylolisthesis	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0002099	Asthma	HP:0040282	ORPHA:495818
4010	LMX1B	HP:0003388	Easy fatigability	36/76	OMIM:131300
4010	LMX1B	HP:0008124	Talipes calcaneovarus	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4010	LMX1B	HP:0008110	Equinovarus deformity	HP:0040282	ORPHA:2614
4010	LMX1B	HP:0003418	Back pain	HP:0040282	ORPHA:2614
4010	LMX1B	HP:0003418	Back pain	66/120	OMIM:161200
4010	LMX1B	HP:0002188	Delayed CNS myelination	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0002164	Nail dysplasia	HP:0040281	ORPHA:495818
4010	LMX1B	HP:0011825	Tented philtrum	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0011822	Broad chin	HP:0040281	ORPHA:495818
4010	LMX1B	HP:0004722	Thickened glomerular basement membrane	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0003596	Middle age onset	1/11	OMIM:256020
4010	LMX1B	HP:0003584	Late onset	1/11	OMIM:256020
4010	LMX1B	HP:0010720	Abnormal hair pattern	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0100798	Fingernail dysplasia	HP:0040282	ORPHA:2614
4010	LMX1B	HP:0100797	Toenail dysplasia	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0010665	Bilateral coxa valga	HP:0040282	ORPHA:495818
4010	LMX1B	HP:0003510	Severe short stature	7/7	OMIM:615777
4010	LMX1B	HP:0001032	Absent distal interphalangeal creases	114/119	OMIM:161200
4010	LMX1B	HP:0001009	Telangiectasia	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0002315	Headache	-	OMIM:131300
4010	LMX1B	HP:0004976	Knee dislocation	6/7	OMIM:615777
4010	LMX1B	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0200005	Abnormal shape of the palpebral fissure	HP:0040281	ORPHA:495818
4010	LMX1B	HP:0009811	Abnormality of the elbow	HP:0040282	ORPHA:2614
4010	LMX1B	HP:0009803	Short phalanx of finger	-	OMIM:615777
4010	LMX1B	HP:0100633	Esophagitis	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0009780	Iliac horns	HP:0040282	ORPHA:2614
4010	LMX1B	HP:0009780	Iliac horns	34/50	OMIM:161200
4010	LMX1B	HP:0009781	Lester's sign	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0009781	Lester's sign	-	OMIM:161200
4010	LMX1B	HP:0009783	Biceps aplasia	-	OMIM:161200
4010	LMX1B	HP:0009785	Triceps aplasia	-	OMIM:161200
4010	LMX1B	HP:0009788	Quadriceps aplasia	-	OMIM:161200
4010	LMX1B	HP:0009760	Antecubital pterygium	15/123	OMIM:161200
4010	LMX1B	HP:0009760	Antecubital pterygium	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0009763	Limb pain	63/92	OMIM:131300
4010	LMX1B	HP:0003621	Juvenile onset	3/11	OMIM:256020
4010	LMX1B	HP:0003621	Juvenile onset	-	OMIM:131300
4010	LMX1B	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4010	LMX1B	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:161200
4010	LMX1B	HP:0006855	Cerebellar vermis atrophy	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4010	LMX1B	HP:6001056	Out-toeing	-	OMIM:131300
4010	LMX1B	HP:0000651	Diplopia	-	OMIM:131300
4010	LMX1B	HP:0001956	Truncal obesity	2/7	OMIM:615777
4010	LMX1B	HP:0001903	Anemia	HP:0040283	OMIM:131300
4010	LMX1B	HP:0010049	Short metacarpal	-	OMIM:615777
4010	LMX1B	HP:0000678	Dental crowding	-	OMIM:615777
4010	LMX1B	HP:0000670	Carious teeth	-	OMIM:131300
4010	LMX1B	HP:0011304	Broad thumb	2/7	OMIM:615777
4010	LMX1B	HP:0000668	Hypodontia	-	OMIM:615777
4010	LMX1B	HP:0000664	Synophrys	-	OMIM:615777
4010	LMX1B	HP:0004322	Short stature	-	OMIM:161200
4010	LMX1B	HP:0004322	Short stature	HP:0040281	ORPHA:2613
4010	LMX1B	HP:0003083	Dislocated radial head	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0004396	Poor appetite	-	OMIM:131300
4010	LMX1B	HP:0003065	Patellar hypoplasia	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0003065	Patellar hypoplasia	179/237	OMIM:161200
4010	LMX1B	HP:0003065	Patellar hypoplasia	HP:0040282	ORPHA:495818
4010	LMX1B	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4010	LMX1B	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4010	LMX1B	HP:0003045	Abnormal patella morphology	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0031910	Abnormal cranial nerve physiology	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4010	LMX1B	HP:0003026	Short long bone	7/7	OMIM:615777
4010	LMX1B	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4010	LMX1B	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0000767	Pectus excavatum	-	OMIM:161200
4010	LMX1B	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4010	LMX1B	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4010	LMX1B	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4010	LMX1B	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:495818
4010	LMX1B	HP:0000750	Delayed speech and language development	-	OMIM:615777
4010	LMX1B	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040282	ORPHA:2614
4010	LMX1B	HP:0000708	Atypical behavior	HP:0040282	ORPHA:495818
4010	LMX1B	HP:0011462	Young adult onset	6/11	OMIM:256020
4010	LMX1B	HP:0011461	Fetal onset	7/7	OMIM:615777
4010	LMX1B	HP:0000774	Narrow chest	2/7	OMIM:615777
4010	LMX1B	HP:0000790	Hematuria	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0000790	Hematuria	-	OMIM:161200
4010	LMX1B	HP:0003199	Decreased muscle mass	HP:0040282	ORPHA:2614
4010	LMX1B	HP:0000926	Platyspondyly	1/7	OMIM:615777
4010	LMX1B	HP:0003180	Flat acetabular roof	-	OMIM:615777
4010	LMX1B	HP:0004482	Relative macrocephaly	-	OMIM:615777
4010	LMX1B	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4010	LMX1B	HP:0000822	Hypertension	HP:0040281	ORPHA:2613
4010	LMX1B	HP:0000823	Delayed puberty	-	OMIM:131300
4010	LMX1B	HP:0000894	Short clavicles	-	OMIM:615777
4010	LMX1B	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4010	LMX1B	HP:0045086	Knee joint hypermobility	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0030839	Knee pain	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0008007	Primary congenital glaucoma	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4010	LMX1B	HP:0000939	Osteoporosis	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0008034	Abnormal iris pigmentation	HP:0040282	ORPHA:2614
4010	LMX1B	HP:0000286	Epicanthus	1/7	OMIM:615777
4010	LMX1B	HP:0000280	Coarse facial features	2/7	OMIM:615777
4010	LMX1B	HP:0000293	Full cheeks	HP:0040281	ORPHA:495818
4010	LMX1B	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:2614
4010	LMX1B	HP:0001598	Concave nail	-	OMIM:161200
4010	LMX1B	HP:0006471	Fixed elbow flexion	HP:0040282	ORPHA:495818
4010	LMX1B	HP:0006443	Patellar aplasia	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0006443	Patellar aplasia	21/237	OMIM:161200
4010	LMX1B	HP:0006443	Patellar aplasia	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0006437	Disproportionate prominence of the femoral medial condyle	-	OMIM:161200
4010	LMX1B	HP:0006424	Elongated radius	-	OMIM:161200
4010	LMX1B	HP:0002815	Abnormality of the knee	HP:0040282	ORPHA:2614
4010	LMX1B	HP:0002827	Hip dislocation	3/7	OMIM:615777
4010	LMX1B	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0006394	Limited pronation/supination of forearm	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0000252	Microcephaly	HP:0040282	ORPHA:495818
4010	LMX1B	HP:0000252	Microcephaly	-	OMIM:615777
4010	LMX1B	HP:0000248	Brachycephaly	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:495818
4010	LMX1B	HP:0002857	Genu valgum	-	OMIM:131300
4010	LMX1B	HP:0001533	Slender build	-	OMIM:131300
4010	LMX1B	HP:0000204	Cleft upper lip	-	OMIM:161200
4010	LMX1B	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4010	LMX1B	HP:0007807	Optic nerve compression	-	OMIM:131300
4010	LMX1B	HP:0012368	Flat face	7/7	OMIM:615777
4010	LMX1B	HP:0012376	Microphakia	-	OMIM:161200
4010	LMX1B	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0005255	Absence of pectoralis minor muscle	-	OMIM:161200
4010	LMX1B	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0002938	Lumbar hyperlordosis	41/87	OMIM:161200
4010	LMX1B	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4010	LMX1B	HP:0005190	Proximal finger joint hyperextensibility	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0002907	Microscopic hematuria	HP:0040281	ORPHA:2613
4010	LMX1B	HP:0000365	Hearing impairment	10/67	OMIM:131300
4010	LMX1B	HP:0000369	Low-set ears	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0000343	Long philtrum	1/7	OMIM:615777
4010	LMX1B	HP:0011001	Increased bone mineral density	-	OMIM:131300
4010	LMX1B	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0002999	Patellar dislocation	30/118	OMIM:161200
4010	LMX1B	HP:0002999	Patellar dislocation	HP:0040281	ORPHA:495818
4010	LMX1B	HP:0000348	High forehead	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0000311	Round face	HP:0040281	ORPHA:495818
4010	LMX1B	HP:0000311	Round face	2/7	OMIM:615777
4010	LMX1B	HP:0002992	Abnormal tibia morphology	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:2614
4010	LMX1B	HP:0002970	Genu varum	-	OMIM:615777
4010	LMX1B	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0000303	Mandibular prognathia	-	OMIM:131300
4010	LMX1B	HP:0006633	Glenoid fossa hypoplasia	-	OMIM:161200
4010	LMX1B	HP:0007906	Ocular hypertension	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0006650	Thickening of the lateral border of the scapula	-	OMIM:161200
4010	LMX1B	HP:0006657	Hypoplasia of first ribs	-	OMIM:161200
4010	LMX1B	HP:0000407	Sensorineural hearing impairment	-	OMIM:161200
4010	LMX1B	HP:0005290	Internal carotid artery hypoplasia	HP:0040284	ORPHA:2614
4010	LMX1B	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4010	LMX1B	HP:0000483	Astigmatism	HP:0040282	ORPHA:495818
4010	LMX1B	HP:0000486	Strabismus	HP:0040282	ORPHA:495818
4010	LMX1B	HP:0000482	Microcornea	-	OMIM:161200
4010	LMX1B	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0000470	Short neck	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0000470	Short neck	1/7	OMIM:615777
4010	LMX1B	HP:0000465	Webbed neck	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0001798	Anonychia	-	OMIM:161200
4010	LMX1B	HP:0001771	Achilles tendon contracture	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0001772	Talipes equinovalgus	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4010	LMX1B	HP:0001763	Pes planus	HP:0040282	ORPHA:2614
4010	LMX1B	HP:0001763	Pes planus	76/118	OMIM:161200
4010	LMX1B	HP:0001763	Pes planus	1/7	OMIM:615777
4010	LMX1B	HP:0000445	Wide nose	HP:0040283	ORPHA:495818
4010	LMX1B	HP:0000414	Bulbous nose	HP:0040281	ORPHA:495818
4010	LMX1B	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:495818
4010	LMX1B	HP:0001762	Talipes equinovarus	23/122	OMIM:161200
4010	LMX1B	HP:0000421	Epistaxis	HP:0040282	ORPHA:495818
4010	LMX1B	HP:0006702	Coronary artery dissection	HP:0040284	ORPHA:2614
4010	LMX1B	HP:0011297	Abnormal digit morphology	HP:0040281	ORPHA:2614
4010	LMX1B	HP:0005487	Prominent metopic ridge	HP:0040282	ORPHA:495818
4010	LMX1B	HP:0000518	Cataract	-	OMIM:161200
4010	LMX1B	HP:0001840	Metatarsus adductus	-	OMIM:615777
4010	LMX1B	HP:0000520	Proptosis	2/4	OMIM:131300
4010	LMX1B	HP:0000520	Proptosis	7/7	OMIM:615777
4010	LMX1B	HP:0000506	Telecanthus	HP:0040282	ORPHA:495818
4010	LMX1B	HP:0000508	Ptosis	-	OMIM:161200
4010	LMX1B	HP:0000501	Glaucoma	-	OMIM:161200
4010	LMX1B	HP:0001807	Ridged nail	-	OMIM:161200
4010	LMX1B	HP:0012579	Minimal change glomerulonephritis	2/8	OMIM:256020
4010	LMX1B	HP:0000592	Blue sclerae	2/7	OMIM:615777
4010	LMX1B	HP:0000563	Keratoconus	-	OMIM:161200
4010	LMX1B	HP:0001884	Talipes calcaneovalgus	HP:0040283	ORPHA:2614
4010	LMX1B	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4010	LMX1B	HP:0012514	Lower limb pain	4/4	OMIM:131300
4014	LORICRIN	HP:0025114	Hypergranulosis	-	OMIM:604117
4014	LORICRIN	HP:0025114	Hypergranulosis	HP:0040282	ORPHA:79395
4014	LORICRIN	HP:0007503	Generalized ichthyosis	HP:0040281	ORPHA:79395
4014	LORICRIN	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	HP:0040282	ORPHA:79395
4014	LORICRIN	HP:0007465	Honeycomb palmoplantar hyperkeratosis	11/11	OMIM:604117
4014	LORICRIN	HP:0007465	Honeycomb palmoplantar hyperkeratosis	HP:0040282	ORPHA:79395
4014	LORICRIN	HP:0000006	Autosomal dominant inheritance	-	OMIM:604117
4014	LORICRIN	HP:0032541	Knuckle pad	HP:0040282	ORPHA:79395
4014	LORICRIN	HP:0010491	Digital constriction ring	HP:0040281	ORPHA:79395
4014	LORICRIN	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:79395
4014	LORICRIN	HP:0001036	Parakeratosis	-	OMIM:604117
4014	LORICRIN	HP:0001036	Parakeratosis	HP:0040282	ORPHA:79395
4014	LORICRIN	HP:0025092	Epidermal acanthosis	HP:0040283	ORPHA:79395
4014	LORICRIN	HP:0200035	Skin plaque	HP:0040281	ORPHA:316
4014	LORICRIN	HP:0010783	Erythema	HP:0040281	ORPHA:316
4014	LORICRIN	HP:0009775	Amniotic constriction ring	11/11	OMIM:604117
4014	LORICRIN	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:79395
4014	LORICRIN	HP:0000972	Palmoplantar hyperkeratosis	HP:0040281	ORPHA:79395
4014	LORICRIN	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:316
4014	LORICRIN	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:79395
4014	LORICRIN	HP:0000962	Hyperkeratosis	2/2	OMIM:604117
4014	LORICRIN	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:79395
4014	LORICRIN	HP:0040162	Orthokeratosis	-	OMIM:604117
4014	LORICRIN	HP:0040162	Orthokeratosis	HP:0040283	ORPHA:79395
4014	LORICRIN	HP:0001595	Abnormal hair morphology	0/11	OMIM:604117
4014	LORICRIN	HP:0001596	Alopecia	HP:0040283	ORPHA:79395
4014	LORICRIN	HP:0025525	Scaling skin on fingertip	HP:0040282	ORPHA:79395
4014	LORICRIN	HP:0000407	Sensorineural hearing impairment	-	ORPHA:79395
4014	LORICRIN	HP:0001805	Onychogryphosis	HP:0040283	ORPHA:79395
4015	LOX	HP:0009901	Crumpled ear	90/119	OMIM:121050
4015	LOX	HP:0001181	Adducted thumb	42/90	OMIM:121050
4015	LOX	HP:0001166	Arachnodactyly	104/124	OMIM:121050
4015	LOX	HP:0001166	Arachnodactyly	124/197	OMIM:154700
4015	LOX	HP:0001166	Arachnodactyly	34/37	OMIM:182212
4015	LOX	HP:0001166	Arachnodactyly	6/15	OMIM:208050
4015	LOX	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
4015	LOX	HP:0003745	Sporadic	-	OMIM:182212
4015	LOX	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
4015	LOX	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
4015	LOX	HP:0001297	Stroke	HP:0040283	ORPHA:91387
4015	LOX	HP:0001290	Generalized hypotonia	-	OMIM:208050
4015	LOX	HP:0001290	Generalized hypotonia	-	OMIM:182212
4015	LOX	HP:0001270	Motor delay	-	OMIM:121050
4015	LOX	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
4015	LOX	HP:0001252	Hypotonia	26/37	OMIM:182212
4015	LOX	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
4015	LOX	HP:0001249	Intellectual disability	-	OMIM:182212
4015	LOX	HP:0001263	Global developmental delay	-	OMIM:182212
4015	LOX	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
4015	LOX	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
4015	LOX	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
4015	LOX	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
4015	LOX	HP:0000098	Tall stature	-	OMIM:154700
4015	LOX	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
4015	LOX	HP:0001377	Limited elbow extension	94/109	OMIM:121050
4015	LOX	HP:0001377	Limited elbow extension	29/199	OMIM:154700
4015	LOX	HP:0001371	Flexion contracture	-	OMIM:208050
4015	LOX	HP:0001371	Flexion contracture	-	OMIM:154700
4015	LOX	HP:0001382	Joint hypermobility	1/1	OMIM:130050
4015	LOX	HP:0001382	Joint hypermobility	3/20	OMIM:617168
4015	LOX	HP:0001382	Joint hypermobility	12/14	OMIM:208050
4015	LOX	HP:0001382	Joint hypermobility	11/53	OMIM:154700
4015	LOX	HP:0001382	Joint hypermobility	31/47	OMIM:182212
4015	LOX	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
4015	LOX	HP:0000023	Inguinal hernia	11/11	OMIM:130050
4015	LOX	HP:0000023	Inguinal hernia	8/15	OMIM:208050
4015	LOX	HP:0000023	Inguinal hernia	19/34	OMIM:182212
4015	LOX	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
4015	LOX	HP:0001363	Craniosynostosis	18/37	OMIM:182212
4015	LOX	HP:0000028	Cryptorchidism	1/1	OMIM:130050
4015	LOX	HP:0000028	Cryptorchidism	1/13	OMIM:182212
4015	LOX	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
4015	LOX	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
4015	LOX	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
4015	LOX	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
4015	LOX	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
4015	LOX	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
4015	LOX	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
4015	LOX	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
4015	LOX	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
4015	LOX	HP:0000006	Autosomal dominant inheritance	-	OMIM:617168
4015	LOX	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
4015	LOX	HP:0002650	Scoliosis	16/53	OMIM:154700
4015	LOX	HP:0002650	Scoliosis	11/15	OMIM:121050
4015	LOX	HP:0002650	Scoliosis	1/10	OMIM:617168
4015	LOX	HP:0002650	Scoliosis	3/15	OMIM:208050
4015	LOX	HP:0002650	Scoliosis	23/37	OMIM:182212
4015	LOX	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
4015	LOX	HP:0002647	Aortic dissection	1/58	OMIM:154700
4015	LOX	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
4015	LOX	HP:0002619	Varicose veins	-	OMIM:130050
4015	LOX	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
4015	LOX	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
4015	LOX	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
4015	LOX	HP:0002616	Aortic root aneurysm	5/5	OMIM:617168
4015	LOX	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
4015	LOX	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
4015	LOX	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
4015	LOX	HP:0000189	Narrow palate	-	OMIM:182212
4015	LOX	HP:0000189	Narrow palate	-	OMIM:154700
4015	LOX	HP:0000193	Bifid uvula	0/14	OMIM:208050
4015	LOX	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
4015	LOX	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
4015	LOX	HP:0012151	Hemothorax	3/4	OMIM:130050
4015	LOX	HP:0000139	Uterine prolapse	-	OMIM:130050
4015	LOX	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
4015	LOX	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
4015	LOX	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
4015	LOX	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
4015	LOX	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
4015	LOX	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
4015	LOX	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
4015	LOX	HP:0002036	Hiatus hernia	-	OMIM:208050
4015	LOX	HP:0002007	Frontal bossing	-	OMIM:121050
4015	LOX	HP:0002007	Frontal bossing	-	OMIM:182212
4015	LOX	HP:0003302	Spondylolisthesis	-	OMIM:154700
4015	LOX	HP:0002097	Emphysema	8/9	OMIM:130050
4015	LOX	HP:0002097	Emphysema	HP:0040283	OMIM:154700
4015	LOX	HP:0030961	Microspherophakia	2/53	OMIM:154700
4015	LOX	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
4015	LOX	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
4015	LOX	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
4015	LOX	HP:0010499	Patellar subluxation	12/22	OMIM:121050
4015	LOX	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
4015	LOX	HP:0002140	Ischemic stroke	-	OMIM:208050
4015	LOX	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
4015	LOX	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
4015	LOX	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
4015	LOX	HP:0002107	Pneumothorax	2/2	OMIM:130050
4015	LOX	HP:0002107	Pneumothorax	6/53	OMIM:154700
4015	LOX	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
4015	LOX	HP:0002105	Hemoptysis	6/10	OMIM:130050
4015	LOX	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
4015	LOX	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
4015	LOX	HP:0003596	Middle age onset	4/10	OMIM:617168
4015	LOX	HP:0003593	Infantile onset	5/16	OMIM:208050
4015	LOX	HP:0003577	Congenital onset	5/5	OMIM:121050
4015	LOX	HP:0003577	Congenital onset	12/26	OMIM:208050
4015	LOX	HP:0003584	Late onset	2/10	OMIM:617168
4015	LOX	HP:0100718	Uterine rupture	-	OMIM:130050
4015	LOX	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
4015	LOX	HP:0004872	Incisional hernia	-	OMIM:154700
4015	LOX	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
4015	LOX	HP:0100775	Dural ectasia	112/140	OMIM:154700
4015	LOX	HP:0100775	Dural ectasia	HP:0040283	OMIM:617168
4015	LOX	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
4015	LOX	HP:0100749	Chest pain	1/2	OMIM:130050
4015	LOX	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
4015	LOX	HP:0002293	Alopecia of scalp	-	OMIM:130050
4015	LOX	HP:0034671	Knee contracture	7/14	OMIM:121050
4015	LOX	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
4015	LOX	HP:0010648	Dermal translucency	3/3	OMIM:130050
4015	LOX	HP:0007099	Chiari type I malformation	-	OMIM:182212
4015	LOX	HP:0025019	Arterial rupture	-	OMIM:130050
4015	LOX	HP:0001065	Striae distensae	11/53	OMIM:154700
4015	LOX	HP:0001065	Striae distensae	1/10	OMIM:617168
4015	LOX	HP:0001030	Fragile skin	-	OMIM:130050
4015	LOX	HP:0001027	Soft, doughy skin	-	OMIM:208050
4015	LOX	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
4015	LOX	HP:0100645	Cystocele	-	OMIM:130050
4015	LOX	HP:0001073	Cigarette-paper scars	-	OMIM:130050
4015	LOX	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
4015	LOX	HP:0001083	Ectopia lentis	119/251	OMIM:154700
4015	LOX	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
4015	LOX	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
4015	LOX	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
4015	LOX	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
4015	LOX	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
4015	LOX	HP:0003623	Neonatal onset	3/16	OMIM:208050
4015	LOX	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
4015	LOX	HP:0004970	Ascending tubular aorta aneurysm	3/10	OMIM:617168
4015	LOX	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
4015	LOX	HP:0004933	Ascending aortic dissection	2/10	OMIM:617168
4015	LOX	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
4015	LOX	HP:0003621	Juvenile onset	2/10	OMIM:617168
4015	LOX	HP:0003621	Juvenile onset	2/16	OMIM:208050
4015	LOX	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
4015	LOX	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
4015	LOX	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
4015	LOX	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
4015	LOX	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
4015	LOX	HP:0001977	Abnormal thrombosis	-	OMIM:208050
4015	LOX	HP:0001903	Anemia	1/1	OMIM:130050
4015	LOX	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
4015	LOX	HP:0000678	Dental crowding	8/53	OMIM:154700
4015	LOX	HP:0000678	Dental crowding	HP:0040283	OMIM:617168
4015	LOX	HP:0000689	Dental malocclusion	-	OMIM:182212
4015	LOX	HP:0004322	Short stature	-	OMIM:130050
4015	LOX	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
4015	LOX	HP:0003088	Premature osteoarthritis	-	OMIM:154700
4015	LOX	HP:0003083	Dislocated radial head	5/37	OMIM:182212
4015	LOX	HP:0003066	Limited knee extension	38/45	OMIM:121050
4015	LOX	HP:0003042	Elbow dislocation	1/12	OMIM:121050
4015	LOX	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
4015	LOX	HP:0005684	Distal arthrogryposis	-	OMIM:121050
4015	LOX	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
4015	LOX	HP:0000767	Pectus excavatum	2/14	OMIM:121050
4015	LOX	HP:0000767	Pectus excavatum	1/4	OMIM:130050
4015	LOX	HP:0000767	Pectus excavatum	1/10	OMIM:617168
4015	LOX	HP:0000767	Pectus excavatum	3/15	OMIM:208050
4015	LOX	HP:0000767	Pectus excavatum	44/146	OMIM:154700
4015	LOX	HP:0000767	Pectus excavatum	-	OMIM:182212
4015	LOX	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
4015	LOX	HP:0000768	Pectus carinatum	4/14	OMIM:121050
4015	LOX	HP:0000768	Pectus carinatum	2/15	OMIM:208050
4015	LOX	HP:0000768	Pectus carinatum	58/146	OMIM:154700
4015	LOX	HP:0000768	Pectus carinatum	-	OMIM:182212
4015	LOX	HP:0012727	Thoracic aortic aneurysm	2/10	OMIM:617168
4015	LOX	HP:0000704	Periodontitis	-	OMIM:130050
4015	LOX	HP:0011463	Childhood onset	1/16	OMIM:208050
4015	LOX	HP:0011462	Young adult onset	4/10	OMIM:617168
4015	LOX	HP:0011462	Young adult onset	3/16	OMIM:208050
4015	LOX	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
4015	LOX	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
4015	LOX	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
4015	LOX	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
4015	LOX	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
4015	LOX	HP:0030799	Scaphocephaly	-	OMIM:121050
4015	LOX	HP:0003199	Decreased muscle mass	-	OMIM:154700
4015	LOX	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
4015	LOX	HP:0000883	Thin ribs	-	OMIM:182212
4015	LOX	HP:0000822	Hypertension	-	OMIM:208050
4015	LOX	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
4015	LOX	HP:0000895	Lateral clavicle hook	-	OMIM:182212
4015	LOX	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
4015	LOX	HP:0034391	Elbow contracture	10/14	OMIM:121050
4015	LOX	HP:0003273	Hip contracture	32/121	OMIM:121050
4015	LOX	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
4015	LOX	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
4015	LOX	HP:0000978	Bruising susceptibility	-	OMIM:208050
4015	LOX	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
4015	LOX	HP:0000977	Soft skin	7/15	OMIM:208050
4015	LOX	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
4015	LOX	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
4015	LOX	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
4015	LOX	HP:0000973	Cutis laxa	5/14	OMIM:208050
4015	LOX	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
4015	LOX	HP:0000963	Thin skin	4/13	OMIM:208050
4015	LOX	HP:0000938	Osteopenia	-	OMIM:121050
4015	LOX	HP:0000938	Osteopenia	-	OMIM:182212
4015	LOX	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
4015	LOX	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
4015	LOX	HP:0025586	Hypertropia	8/573	OMIM:154700
4015	LOX	HP:0000278	Retrognathia	-	OMIM:154700
4015	LOX	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
4015	LOX	HP:0000260	Wide anterior fontanel	-	OMIM:182212
4015	LOX	HP:0000275	Narrow face	-	OMIM:154700
4015	LOX	HP:0000276	Long face	14/14	OMIM:208050
4015	LOX	HP:0000276	Long face	-	OMIM:154700
4015	LOX	HP:0000272	Malar flattening	9/14	OMIM:208050
4015	LOX	HP:0000272	Malar flattening	31/53	OMIM:154700
4015	LOX	HP:0000268	Dolichocephaly	-	OMIM:121050
4015	LOX	HP:0000268	Dolichocephaly	36/53	OMIM:154700
4015	LOX	HP:0000268	Dolichocephaly	28/37	OMIM:182212
4015	LOX	HP:0005136	Mitral annular calcification	-	OMIM:154700
4015	LOX	HP:0005113	Aortic arch aneurysm	1/5	OMIM:617168
4015	LOX	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
4015	LOX	HP:0005112	Abdominal aortic aneurysm	HP:0040283	OMIM:617168
4015	LOX	HP:0002816	Genu recurvatum	-	OMIM:182212
4015	LOX	HP:0002816	Genu recurvatum	-	OMIM:154700
4015	LOX	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
4015	LOX	HP:0000244	Brachyturricephaly	-	OMIM:182212
4015	LOX	HP:0000238	Hydrocephalus	13/37	OMIM:182212
4015	LOX	HP:0000252	Microcephaly	6/37	OMIM:182212
4015	LOX	HP:0000248	Brachycephaly	-	OMIM:121050
4015	LOX	HP:0000218	High palate	34/53	OMIM:154700
4015	LOX	HP:0000218	High palate	30/102	OMIM:121050
4015	LOX	HP:0000218	High palate	1/10	OMIM:617168
4015	LOX	HP:0000218	High palate	5/13	OMIM:208050
4015	LOX	HP:0000218	High palate	30/37	OMIM:182212
4015	LOX	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
4015	LOX	HP:0000233	Thin vermilion border	-	OMIM:130050
4015	LOX	HP:0030009	Cervical insufficiency	-	OMIM:130050
4015	LOX	HP:0002857	Genu valgum	4/37	OMIM:182212
4015	LOX	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
4015	LOX	HP:0001537	Umbilical hernia	-	OMIM:208050
4015	LOX	HP:0001537	Umbilical hernia	13/37	OMIM:182212
4015	LOX	HP:0031364	Ecchymosis	-	OMIM:130050
4015	LOX	HP:0001519	Disproportionate tall stature	-	OMIM:121050
4015	LOX	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
4015	LOX	HP:0001519	Disproportionate tall stature	1/10	OMIM:617168
4015	LOX	HP:0007800	Increased axial length of the globe	-	OMIM:154700
4015	LOX	HP:0012385	Camptodactyly	86/110	OMIM:121050
4015	LOX	HP:0012385	Camptodactyly	19/53	OMIM:154700
4015	LOX	HP:0012385	Camptodactyly	24/37	OMIM:182212
4015	LOX	HP:0000387	Absent earlobe	-	OMIM:130050
4015	LOX	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
4015	LOX	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
4015	LOX	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
4015	LOX	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
4015	LOX	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
4015	LOX	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
4015	LOX	HP:0006480	Premature loss of teeth	-	OMIM:130050
4015	LOX	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
4015	LOX	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
4015	LOX	HP:0000369	Low-set ears	32/37	OMIM:182212
4015	LOX	HP:0000343	Long philtrum	-	OMIM:208050
4015	LOX	HP:0002999	Patellar dislocation	2/20	OMIM:121050
4015	LOX	HP:0000347	Micrognathia	-	OMIM:154700
4015	LOX	HP:0000347	Micrognathia	26/94	OMIM:121050
4015	LOX	HP:0000347	Micrognathia	5/14	OMIM:208050
4015	LOX	HP:0000347	Micrognathia	33/37	OMIM:182212
4015	LOX	HP:0001677	Coronary artery atherosclerosis	1/10	OMIM:617168
4015	LOX	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
4015	LOX	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
4015	LOX	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
4015	LOX	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
4015	LOX	HP:0001647	Bicuspid aortic valve	3/10	OMIM:617168
4015	LOX	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
4015	LOX	HP:0000316	Hypertelorism	6/16	OMIM:208050
4015	LOX	HP:0000316	Hypertelorism	28/37	OMIM:182212
4015	LOX	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
4015	LOX	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
4015	LOX	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
4015	LOX	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
4015	LOX	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
4015	LOX	HP:0001659	Aortic regurgitation	-	OMIM:208050
4015	LOX	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
4015	LOX	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
4015	LOX	HP:0001653	Mitral regurgitation	-	OMIM:121050
4015	LOX	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
4015	LOX	HP:0001653	Mitral regurgitation	1/10	OMIM:617168
4015	LOX	HP:0001629	Ventricular septal defect	-	OMIM:121050
4015	LOX	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
4015	LOX	HP:0001635	Congestive heart failure	-	OMIM:154700
4015	LOX	HP:0001631	Atrial septal defect	-	OMIM:121050
4015	LOX	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
4015	LOX	HP:0001634	Mitral valve prolapse	-	OMIM:130050
4015	LOX	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
4015	LOX	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
4015	LOX	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
4015	LOX	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
4015	LOX	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
4015	LOX	HP:0031643	Fusiform ascending tubular aorta aneurysm	1/10	OMIM:617168
4015	LOX	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
4015	LOX	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
4015	LOX	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
4015	LOX	HP:0000400	Macrotia	7/15	OMIM:208050
4015	LOX	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
4015	LOX	HP:0001712	Left ventricular hypertrophy	1/10	OMIM:617168
4015	LOX	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
4015	LOX	HP:0000483	Astigmatism	3/53	OMIM:154700
4015	LOX	HP:0000483	Astigmatism	5/15	OMIM:208050
4015	LOX	HP:0000486	Strabismus	110/573	OMIM:154700
4015	LOX	HP:0000486	Strabismus	17/37	OMIM:182212
4015	LOX	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
4015	LOX	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
4015	LOX	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
4015	LOX	HP:0000490	Deeply set eye	25/63	OMIM:154700
4015	LOX	HP:0000463	Anteverted nares	9/37	OMIM:182212
4015	LOX	HP:0001786	Narrow foot	33/53	OMIM:154700
4015	LOX	HP:0000470	Short neck	-	OMIM:121050
4015	LOX	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
4015	LOX	HP:0001763	Pes planus	27/53	OMIM:154700
4015	LOX	HP:0001763	Pes planus	-	OMIM:182212
4015	LOX	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
4015	LOX	HP:0001765	Hammertoe	-	OMIM:154700
4015	LOX	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
4015	LOX	HP:0000418	Narrow nasal ridge	-	OMIM:130050
4015	LOX	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
4015	LOX	HP:0001762	Talipes equinovarus	-	OMIM:130050
4015	LOX	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
4015	LOX	HP:0001761	Pes cavus	49/146	OMIM:154700
4015	LOX	HP:0000518	Cataract	118/199	OMIM:154700
4015	LOX	HP:0001840	Metatarsus adductus	-	OMIM:121050
4015	LOX	HP:0001840	Metatarsus adductus	-	OMIM:182212
4015	LOX	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
4015	LOX	HP:0001842	Foot acroosteolysis	-	OMIM:130050
4015	LOX	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
4015	LOX	HP:0000520	Proptosis	29/37	OMIM:182212
4015	LOX	HP:0000506	Telecanthus	-	OMIM:182212
4015	LOX	HP:0000508	Ptosis	16/37	OMIM:182212
4015	LOX	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
4015	LOX	HP:0000501	Glaucoma	29/625	OMIM:154700
4015	LOX	HP:0000581	Blepharophimosis	-	OMIM:208050
4015	LOX	HP:0000577	Exotropia	72/626	OMIM:154700
4015	LOX	HP:0000586	Shallow orbits	13/37	OMIM:182212
4015	LOX	HP:0000563	Keratoconus	-	OMIM:130050
4015	LOX	HP:0000563	Keratoconus	3/14	OMIM:208050
4015	LOX	HP:0011220	Prominent forehead	17/37	OMIM:182212
4015	LOX	HP:0000565	Esotropia	12/573	OMIM:154700
4015	LOX	HP:0000541	Retinal detachment	-	OMIM:154700
4015	LOX	HP:0001883	Talipes	13/53	OMIM:154700
4015	LOX	HP:0000545	Myopia	-	OMIM:121050
4015	LOX	HP:0000545	Myopia	HP:0040283	OMIM:617168
4015	LOX	HP:0000545	Myopia	6/15	OMIM:208050
4015	LOX	HP:0000545	Myopia	93/251	OMIM:154700
4015	LOX	HP:0000545	Myopia	9/37	OMIM:182212
4016	LOXL1	HP:0001132	Lens subluxation	-	OMIM:177650
4016	LOXL1	HP:0009916	Anisocoria	-	OMIM:177650
4016	LOXL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:177650
4016	LOXL1	HP:0002063	Rigidity	-	OMIM:177650
4016	LOXL1	HP:0012629	Phakodonesis	-	OMIM:177650
4016	LOXL1	HP:0012627	Pseudoexfoliation	-	OMIM:177650
4016	LOXL1	HP:0012635	Iris hypoperfusion	-	OMIM:177650
4016	LOXL1	HP:0012636	Retinal vein occlusion	-	OMIM:177650
4016	LOXL1	HP:0012631	Pigment deposition in the trabecular meshwork	-	OMIM:177650
4016	LOXL1	HP:0012633	Asymmetry of intraocular pressure	-	OMIM:177650
4016	LOXL1	HP:0011499	Mydriasis	-	OMIM:177650
4016	LOXL1	HP:0000518	Cataract	-	OMIM:177650
4016	LOXL1	HP:0000517	Abnormal lens morphology	-	OMIM:177650
4016	LOXL1	HP:0000501	Glaucoma	-	OMIM:177650
4023	LPL	HP:0001114	Xanthelasma	HP:0040283	OMIM:144250
4023	LPL	HP:0002574	Episodic abdominal pain	-	OMIM:238600
4023	LPL	HP:0031028	Lactescent serum	1/1	OMIM:238600
4023	LPL	HP:0000007	Autosomal recessive inheritance	-	OMIM:238600
4023	LPL	HP:0000006	Autosomal dominant inheritance	-	OMIM:144250
4023	LPL	HP:0001433	Hepatosplenomegaly	-	OMIM:238600
4023	LPL	HP:0002018	Nausea	-	OMIM:238600
4023	LPL	HP:0003362	Increased VLDL cholesterol concentration	-	OMIM:144250
4023	LPL	HP:0002013	Vomiting	-	OMIM:238600
4023	LPL	HP:0001013	Eruptive xanthomas	1/1	OMIM:238600
4023	LPL	HP:0031800	Elevated circulating apolipoprotein A-II concentration	-	OMIM:144250
4023	LPL	HP:0031798	Elevated circulating apolipoprotein B concentration	-	OMIM:144250
4023	LPL	HP:0000660	Lipemia retinalis	-	OMIM:238600
4023	LPL	HP:0003077	Hyperlipidemia	-	OMIM:238600
4023	LPL	HP:0003077	Hyperlipidemia	-	OMIM:144250
4023	LPL	HP:0011462	Young adult onset	1/1	OMIM:238600
4023	LPL	HP:0003124	Hypercholesterolemia	1/1	OMIM:238600
4023	LPL	HP:0003124	Hypercholesterolemia	-	OMIM:144250
4023	LPL	HP:0004416	Precocious atherosclerosis	0/1	OMIM:238600
4023	LPL	HP:0003141	Increased LDL cholesterol concentration	-	OMIM:144250
4023	LPL	HP:0000952	Jaundice	-	OMIM:238600
4023	LPL	HP:0012238	Increased circulating chylomicron concentration	-	OMIM:238600
4023	LPL	HP:0001658	Myocardial infarction	-	OMIM:144250
4023	LPL	HP:0001735	Acute pancreatitis	1/1	OMIM:238600
4023	LPL	HP:0001744	Splenomegaly	-	OMIM:238600
4026	LPP	HP:0000006	Autosomal dominant inheritance	-	OMIM:601626
4026	LPP	HP:0001442	Typified by somatic mosaicism	-	OMIM:601626
4026	LPP	HP:0004808	Acute myeloid leukemia	-	OMIM:601626
4035	LRP1	HP:0001131	Corneal dystrophy	HP:0040283	ORPHA:2340
4035	LRP1	HP:0009926	Epiphora	-	OMIM:604093
4035	LRP1	HP:0025249	Comedo	4/4	OMIM:604093
4035	LRP1	HP:0001249	Intellectual disability	0/4	OMIM:604093
4035	LRP1	HP:0001374	Congenital hip dislocation	-	OMIM:620690
4035	LRP1	HP:0007515	Hypoplastic pilosebaceous units	HP:0040281	ORPHA:79100
4035	LRP1	HP:0007502	Follicular hyperkeratosis	HP:0040282	ORPHA:79100
4035	LRP1	HP:0007502	Follicular hyperkeratosis	HP:0040282	ORPHA:2340
4035	LRP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:604093
4035	LRP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620690
4035	LRP1	HP:0031285	Abnormal perifollicular morphology	-	OMIM:604093
4035	LRP1	HP:0003593	Infantile onset	-	OMIM:620690
4035	LRP1	HP:0003593	Infantile onset	4/4	OMIM:604093
4035	LRP1	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:2340
4035	LRP1	HP:0002287	Progressive alopecia	HP:0040282	ORPHA:2340
4035	LRP1	HP:0001067	Neurofibroma	HP:0040283	ORPHA:79100
4035	LRP1	HP:0001047	Atopic dermatitis	HP:0040283	ORPHA:2340
4035	LRP1	HP:0001041	Facial erythema	HP:0040282	ORPHA:2340
4035	LRP1	HP:0200034	Papule	4/4	OMIM:604093
4035	LRP1	HP:0025084	Folliculitis	HP:0040282	ORPHA:2340
4035	LRP1	HP:0001075	Atrophic scars	HP:0040281	ORPHA:79100
4035	LRP1	HP:0010783	Erythema	4/4	OMIM:604093
4035	LRP1	HP:0010783	Erythema	HP:0040283	ORPHA:79100
4035	LRP1	HP:0032152	Keratosis pilaris	4/4	OMIM:604093
4035	LRP1	HP:0032152	Keratosis pilaris	HP:0040282	ORPHA:2340
4035	LRP1	HP:0000613	Photophobia	HP:0040283	ORPHA:2340
4035	LRP1	HP:0000653	Sparse eyelashes	HP:0040282	ORPHA:2340
4035	LRP1	HP:0012722	Heart block	HP:0040283	ORPHA:79100
4035	LRP1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:79100
4035	LRP1	HP:0004426	Abnormal cheek morphology	HP:0040281	ORPHA:79100
4035	LRP1	HP:0004552	Scarring alopecia of scalp	HP:0040282	ORPHA:2340
4035	LRP1	HP:0045059	Hyperkeratotic papule	HP:0040282	ORPHA:2340
4035	LRP1	HP:0045059	Hyperkeratotic papule	HP:0040282	ORPHA:79100
4035	LRP1	HP:0003274	Hypoplastic acetabulae	-	OMIM:620690
4035	LRP1	HP:0045075	Sparse eyebrow	4/4	OMIM:604093
4035	LRP1	HP:0045075	Sparse eyebrow	HP:0040282	ORPHA:2340
4035	LRP1	HP:0100277	Periauricular skin pits	HP:0040282	ORPHA:79100
4035	LRP1	HP:0100276	Skin pit	HP:0040281	ORPHA:79100
4035	LRP1	HP:0000989	Pruritus	HP:0040283	ORPHA:79100
4035	LRP1	HP:0000989	Pruritus	HP:0040282	ORPHA:2340
4035	LRP1	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:2340
4035	LRP1	HP:0000290	Abnormal forehead morphology	HP:0040283	ORPHA:79100
4035	LRP1	HP:0000306	Abnormality of the chin	HP:0040282	ORPHA:79100
4035	LRP1	HP:0000498	Blepharitis	HP:0040283	ORPHA:2340
4035	LRP1	HP:0011124	Abnormal epidermal morphology	HP:0040281	ORPHA:79100
4035	LRP1	HP:0000464	Abnormality of the neck	HP:0040283	ORPHA:79100
4035	LRP1	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:2340
4035	LRP1	HP:0000504	Abnormality of vision	0/4	OMIM:604093
4035	LRP1	HP:0000561	Absent eyelashes	4/4	OMIM:604093
4035	LRP1	HP:0012531	Pain	HP:0040283	ORPHA:79100
4036	LRP2	HP:0001123	Visual field defect	-	OMIM:143200
4036	LRP2	HP:0001274	Agenesis of corpus callosum	4/4	OMIM:222448
4036	LRP2	HP:0001270	Motor delay	-	OMIM:156550
4036	LRP2	HP:0001288	Gait disturbance	-	OMIM:156550
4036	LRP2	HP:0001250	Seizure	HP:0040283	ORPHA:2143
4036	LRP2	HP:0001250	Seizure	2/17	OMIM:222448
4036	LRP2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2143
4036	LRP2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2143
4036	LRP2	HP:0001263	Global developmental delay	15/17	OMIM:222448
4036	LRP2	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:2143
4036	LRP2	HP:0002566	Intestinal malrotation	3/13	OMIM:222448
4036	LRP2	HP:0100876	Infra-orbital crease	HP:0040281	OMIM:222448
4036	LRP2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11/11	OMIM:222448
4036	LRP2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040281	ORPHA:2143
4036	LRP2	HP:0006095	Wide tufts of distal phalanges	-	OMIM:154780
4036	LRP2	HP:0000093	Proteinuria	HP:0040281	ORPHA:2143
4036	LRP2	HP:0000093	Proteinuria	17/17	OMIM:222448
4036	LRP2	HP:0001376	Limitation of joint mobility	-	OMIM:156550
4036	LRP2	HP:0012019	Lens luxation	-	OMIM:154780
4036	LRP2	HP:0000023	Inguinal hernia	-	OMIM:156550
4036	LRP2	HP:0002684	Thickened calvaria	-	OMIM:154780
4036	LRP2	HP:0002688	Absent frontal sinuses	-	OMIM:154780
4036	LRP2	HP:0008839	Hypoplastic pelvis	-	OMIM:156550
4036	LRP2	HP:0006172	Flattened, squared-off epiphyses of tubular bones	-	OMIM:156550
4036	LRP2	HP:0002663	Delayed epiphyseal ossification	-	OMIM:156550
4036	LRP2	HP:0002656	Epiphyseal dysplasia	-	OMIM:184840
4036	LRP2	HP:0002673	Coxa valga	-	OMIM:154780
4036	LRP2	HP:0001338	Partial agenesis of the corpus callosum	15/27	OMIM:222448
4036	LRP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:222448
4036	LRP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:154780
4036	LRP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:156550
4036	LRP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:143200
4036	LRP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:184840
4036	LRP2	HP:0008905	Rhizomelia	1/1	OMIM:156550
4036	LRP2	HP:0000179	Thick lower lip vermilion	-	OMIM:154780
4036	LRP2	HP:0000193	Bifid uvula	4/9	OMIM:154780
4036	LRP2	HP:0000175	Cleft palate	-	OMIM:184840
4036	LRP2	HP:0000175	Cleft palate	1/1	OMIM:156550
4036	LRP2	HP:0000175	Cleft palate	4/9	OMIM:154780
4036	LRP2	HP:0007676	Hypoplasia of the iris	HP:0040283	OMIM:222448
4036	LRP2	HP:0007643	Peripheral tractional retinal detachment	-	OMIM:143200
4036	LRP2	HP:0002779	Tracheomalacia	-	OMIM:156550
4036	LRP2	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:2143
4036	LRP2	HP:0004619	Lumbar kyphoscoliosis	-	OMIM:156550
4036	LRP2	HP:0011800	Midface retrusion	-	OMIM:184840
4036	LRP2	HP:0011800	Midface retrusion	-	OMIM:156550
4036	LRP2	HP:0011800	Midface retrusion	9/9	OMIM:154780
4036	LRP2	HP:0011800	Midface retrusion	-	OMIM:222448
4036	LRP2	HP:0002098	Respiratory distress	-	OMIM:156550
4036	LRP2	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:156550
4036	LRP2	HP:0008271	Abnormal cartilage collagen	-	OMIM:156550
4036	LRP2	HP:0010580	Enlarged epiphyses	-	OMIM:184840
4036	LRP2	HP:0003577	Congenital onset	4/4	OMIM:222448
4036	LRP2	HP:0003577	Congenital onset	1/1	OMIM:156550
4036	LRP2	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:156550
4036	LRP2	HP:0200003	Splayed epiphyses	-	OMIM:156550
4036	LRP2	HP:0004209	Clinodactyly of the 5th finger	2/9	OMIM:154780
4036	LRP2	HP:0005574	Non-acidotic proximal tubulopathy	100%	OMIM:222448
4036	LRP2	HP:0000648	Optic atrophy	-	OMIM:143200
4036	LRP2	HP:0000612	Iris coloboma	HP:0040283	ORPHA:2143
4036	LRP2	HP:0000612	Iris coloboma	3/6	OMIM:222448
4036	LRP2	HP:0030490	Exudative vitreoretinopathy	HP:0040283	OMIM:143200
4036	LRP2	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:154780
4036	LRP2	HP:0004322	Short stature	-	OMIM:154780
4036	LRP2	HP:0030663	Optically empty vitreous	-	OMIM:143200
4036	LRP2	HP:0003088	Premature osteoarthritis	-	OMIM:184840
4036	LRP2	HP:0003037	Enlarged joints	-	OMIM:156550
4036	LRP2	HP:0003031	Ulnar bowing	-	OMIM:154780
4036	LRP2	HP:0003015	Flared metaphysis	-	OMIM:156550
4036	LRP2	HP:0000767	Pectus excavatum	1/1	OMIM:156550
4036	LRP2	HP:0000776	Congenital diaphragmatic hernia	HP:0040282	ORPHA:2143
4036	LRP2	HP:0000776	Congenital diaphragmatic hernia	1/4	OMIM:222448
4036	LRP2	HP:0009110	Diaphragmatic eventration	50%	OMIM:222448
4036	LRP2	HP:0003196	Short nose	9/9	OMIM:154780
4036	LRP2	HP:0003196	Short nose	HP:0040281	ORPHA:2143
4036	LRP2	HP:0003196	Short nose	9/11	OMIM:222448
4036	LRP2	HP:0000926	Platyspondyly	1/9	OMIM:154780
4036	LRP2	HP:0000926	Platyspondyly	-	OMIM:184840
4036	LRP2	HP:0000926	Platyspondyly	1/1	OMIM:156550
4036	LRP2	HP:0000879	Short sternum	2/17	OMIM:222448
4036	LRP2	HP:0000813	Bicornuate uterus	HP:0040283	OMIM:222448
4036	LRP2	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:2143
4036	LRP2	HP:0040025	Clinodactyly of the 4th finger	2/9	OMIM:154780
4036	LRP2	HP:0003273	Hip contracture	-	OMIM:156550
4036	LRP2	HP:0100250	Meningeal calcification	-	OMIM:154780
4036	LRP2	HP:0000947	Dumbbell-shaped long bone	-	OMIM:156550
4036	LRP2	HP:0000946	Hypoplastic ilia	-	OMIM:154780
4036	LRP2	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:143200
4036	LRP2	HP:0012283	Small distal femoral epiphysis	-	OMIM:154780
4036	LRP2	HP:0012284	Small proximal tibial epiphyses	-	OMIM:154780
4036	LRP2	HP:0000286	Epicanthus	-	OMIM:154780
4036	LRP2	HP:0000260	Wide anterior fontanel	HP:0040281	ORPHA:2143
4036	LRP2	HP:0000260	Wide anterior fontanel	27/31	OMIM:222448
4036	LRP2	HP:0000256	Macrocephaly	HP:0040282	ORPHA:2143
4036	LRP2	HP:0000256	Macrocephaly	-	OMIM:222448
4036	LRP2	HP:0000272	Malar flattening	-	OMIM:154780
4036	LRP2	HP:0000272	Malar flattening	27/28	OMIM:184840
4036	LRP2	HP:0000272	Malar flattening	-	OMIM:222448
4036	LRP2	HP:0000272	Malar flattening	1/1	OMIM:156550
4036	LRP2	HP:0006456	Irregular proximal tibial epiphyses	-	OMIM:154780
4036	LRP2	HP:0007773	Vitreoretinopathy	-	OMIM:154780
4036	LRP2	HP:0007773	Vitreoretinopathy	-	OMIM:143200
4036	LRP2	HP:0006407	Irregular distal femoral epiphysis	-	OMIM:154780
4036	LRP2	HP:0002812	Coxa vara	-	OMIM:156550
4036	LRP2	HP:0002829	Arthralgia	20/20	OMIM:184840
4036	LRP2	HP:0002827	Hip dislocation	-	OMIM:156550
4036	LRP2	HP:0005086	Knee osteoarthritis	-	OMIM:154780
4036	LRP2	HP:0006375	Dumbbell-shaped femur	1/1	OMIM:156550
4036	LRP2	HP:0006361	Irregular femoral epiphysis	-	OMIM:154780
4036	LRP2	HP:0000215	Thick upper lip vermilion	-	OMIM:154780
4036	LRP2	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:2143
4036	LRP2	HP:0001537	Umbilical hernia	1/17	OMIM:222448
4036	LRP2	HP:0001537	Umbilical hernia	-	OMIM:156550
4036	LRP2	HP:0001539	Omphalocele	HP:0040282	ORPHA:2143
4036	LRP2	HP:0001539	Omphalocele	16/33	OMIM:222448
4036	LRP2	HP:0000201	Pierre-Robin sequence	4/9	OMIM:154780
4036	LRP2	HP:0000201	Pierre-Robin sequence	-	OMIM:184840
4036	LRP2	HP:0000365	Hearing impairment	4/4	OMIM:222448
4036	LRP2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:2143
4036	LRP2	HP:0000358	Posteriorly rotated ears	7/11	OMIM:222448
4036	LRP2	HP:0011003	High myopia	18/18	OMIM:222448
4036	LRP2	HP:0000369	Low-set ears	-	OMIM:154780
4036	LRP2	HP:0000369	Low-set ears	HP:0040282	OMIM:222448
4036	LRP2	HP:0000343	Long philtrum	-	OMIM:154780
4036	LRP2	HP:0000337	Broad forehead	HP:0040282	ORPHA:2143
4036	LRP2	HP:0000349	Widow's peak	HP:0040281	ORPHA:2143
4036	LRP2	HP:0000347	Micrognathia	-	OMIM:154780
4036	LRP2	HP:0002982	Tibial bowing	1/1	OMIM:156550
4036	LRP2	HP:0000316	Hypertelorism	-	OMIM:154780
4036	LRP2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2143
4036	LRP2	HP:0000316	Hypertelorism	26/33	OMIM:222448
4036	LRP2	HP:0000311	Round face	-	OMIM:156550
4036	LRP2	HP:0002986	Radial bowing	-	OMIM:154780
4036	LRP2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:2143
4036	LRP2	HP:0001629	Ventricular septal defect	2/17	OMIM:222448
4036	LRP2	HP:0002970	Genu varum	1/1	OMIM:156550
4036	LRP2	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:154780
4036	LRP2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2143
4036	LRP2	HP:0000407	Sensorineural hearing impairment	15/15	OMIM:222448
4036	LRP2	HP:0000407	Sensorineural hearing impairment	16/28	OMIM:184840
4036	LRP2	HP:0000403	Recurrent otitis media	4/9	OMIM:154780
4036	LRP2	HP:0000403	Recurrent otitis media	-	OMIM:156550
4036	LRP2	HP:0000405	Conductive hearing impairment	-	OMIM:156550
4036	LRP2	HP:0005280	Depressed nasal bridge	27/28	OMIM:184840
4036	LRP2	HP:0005280	Depressed nasal bridge	-	OMIM:156550
4036	LRP2	HP:0005280	Depressed nasal bridge	9/9	OMIM:154780
4036	LRP2	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:2143
4036	LRP2	HP:0005280	Depressed nasal bridge	HP:0040281	OMIM:222448
4036	LRP2	HP:0000478	Abnormality of the eye	0/3	OMIM:184840
4036	LRP2	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:2143
4036	LRP2	HP:0000494	Downslanted palpebral fissures	8/11	OMIM:222448
4036	LRP2	HP:0000463	Anteverted nares	27/28	OMIM:184840
4036	LRP2	HP:0000463	Anteverted nares	-	OMIM:154780
4036	LRP2	HP:0000455	Broad nasal tip	HP:0040281	OMIM:222448
4036	LRP2	HP:0000470	Short neck	-	OMIM:156550
4036	LRP2	HP:0025707	Hypoplastic fetal nasal bone	-	OMIM:154780
4036	LRP2	HP:0005462	Calcification of falx cerebri	-	OMIM:154780
4036	LRP2	HP:0000518	Cataract	-	OMIM:156550
4036	LRP2	HP:0000518	Cataract	-	OMIM:143200
4036	LRP2	HP:0000518	Cataract	9/9	OMIM:154780
4036	LRP2	HP:0000518	Cataract	1/4	OMIM:222448
4036	LRP2	HP:0000529	Progressive visual loss	HP:0040282	OMIM:222448
4036	LRP2	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:2143
4036	LRP2	HP:0000520	Proptosis	HP:0040282	ORPHA:2143
4036	LRP2	HP:0000520	Proptosis	3/17	OMIM:222448
4036	LRP2	HP:0000520	Proptosis	-	OMIM:156550
4036	LRP2	HP:0000501	Glaucoma	-	OMIM:154780
4036	LRP2	HP:0000501	Glaucoma	-	OMIM:143200
4036	LRP2	HP:0000556	Retinal dystrophy	HP:0040283	ORPHA:2143
4036	LRP2	HP:0000556	Retinal dystrophy	3/17	OMIM:222448
4036	LRP2	HP:0000572	Visual loss	-	OMIM:143200
4036	LRP2	HP:0000565	Esotropia	-	OMIM:154780
4036	LRP2	HP:0000541	Retinal detachment	-	OMIM:154780
4036	LRP2	HP:0000541	Retinal detachment	-	OMIM:156550
4036	LRP2	HP:0000541	Retinal detachment	HP:0040282	ORPHA:2143
4036	LRP2	HP:0000541	Retinal detachment	2/21	OMIM:222448
4036	LRP2	HP:0000533	Chorioretinal atrophy	-	OMIM:143200
4036	LRP2	HP:0000545	Myopia	1/1	OMIM:156550
4036	LRP2	HP:0000545	Myopia	-	OMIM:143200
4036	LRP2	HP:0000545	Myopia	9/9	OMIM:154780
4036	LRP2	HP:0000545	Myopia	HP:0040281	ORPHA:2143
4038	LRP4	HP:0002497	Spastic ataxia	1/2	OMIM:614305
4038	LRP4	HP:0001159	Syndactyly	11/12	OMIM:212780
4038	LRP4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4038	LRP4	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:98913
4038	LRP4	HP:0001293	Cranial nerve compression	-	OMIM:131300
4038	LRP4	HP:0001293	Cranial nerve compression	1/2	OMIM:614305
4038	LRP4	HP:0001288	Gait disturbance	1/2	OMIM:614305
4038	LRP4	HP:0001288	Gait disturbance	1/1	OMIM:616304
4038	LRP4	HP:0001252	Hypotonia	2/7	OMIM:615777
4038	LRP4	HP:0001249	Intellectual disability	5/7	OMIM:615777
4038	LRP4	HP:0001265	Hyporeflexia	1/1	OMIM:616304
4038	LRP4	HP:0001263	Global developmental delay	-	OMIM:615777
4038	LRP4	HP:0001233	2-3 finger cutaneous syndactyly	HP:0040281	ORPHA:3152
4038	LRP4	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:3258
4038	LRP4	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:3152
4038	LRP4	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:3258
4038	LRP4	HP:0002515	Waddling gait	54/102	OMIM:131300
4038	LRP4	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:98913
4038	LRP4	HP:0003803	Type 1 muscle fiber predominance	1/1	OMIM:616304
4038	LRP4	HP:0000089	Renal hypoplasia	3/12	OMIM:212780
4038	LRP4	HP:0000086	Ectopic kidney	2/12	OMIM:212780
4038	LRP4	HP:0000098	Tall stature	HP:0040281	ORPHA:3152
4038	LRP4	HP:0001382	Joint hypermobility	-	OMIM:615777
4038	LRP4	HP:0002684	Thickened calvaria	2/2	OMIM:614305
4038	LRP4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4038	LRP4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4038	LRP4	HP:0410011	Abnormality of masticatory muscle	HP:0040282	ORPHA:98913
4038	LRP4	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:3258
4038	LRP4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4038	LRP4	HP:0001324	Muscle weakness	40/96	OMIM:131300
4038	LRP4	HP:0001324	Muscle weakness	HP:0040282	ORPHA:98913
4038	LRP4	HP:0001324	Muscle weakness	1/1	OMIM:616304
4038	LRP4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4038	LRP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:212780
4038	LRP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:616304
4038	LRP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4038	LRP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:614305
4038	LRP4	HP:0000006	Autosomal dominant inheritance	-	OMIM:614305
4038	LRP4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4038	LRP4	HP:0002650	Scoliosis	HP:0040283	ORPHA:3258
4038	LRP4	HP:0002650	Scoliosis	HP:0040283	ORPHA:98913
4038	LRP4	HP:0002650	Scoliosis	12/14	OMIM:131300
4038	LRP4	HP:0002650	Scoliosis	1/12	OMIM:212780
4038	LRP4	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:98913
4038	LRP4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4038	LRP4	HP:0031108	Triceps weakness	HP:0040283	ORPHA:98913
4038	LRP4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4038	LRP4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4038	LRP4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4038	LRP4	HP:0012165	Oligodactyly	HP:0040281	ORPHA:3258
4038	LRP4	HP:0000175	Cleft palate	2/7	OMIM:615777
4038	LRP4	HP:0006357	Premature loss of permanent teeth	2/7	OMIM:212780
4038	LRP4	HP:0005019	Diaphyseal undertubulation	HP:0040281	ORPHA:3152
4038	LRP4	HP:0002705	High, narrow palate	HP:0040283	ORPHA:3258
4038	LRP4	HP:0006297	Enamel hypoplasia	2/10	OMIM:212780
4038	LRP4	HP:0001446	Abnormality of the musculature of the upper limbs	HP:0040282	ORPHA:98913
4038	LRP4	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:98913
4038	LRP4	HP:0000104	Renal agenesis	4/12	OMIM:212780
4038	LRP4	HP:0002007	Frontal bossing	HP:0040281	ORPHA:3258
4038	LRP4	HP:0002007	Frontal bossing	-	OMIM:614305
4038	LRP4	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:3258
4038	LRP4	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:98913
4038	LRP4	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98913
4038	LRP4	HP:0003388	Easy fatigability	36/76	OMIM:131300
4038	LRP4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4038	LRP4	HP:0005916	Abnormal metacarpal morphology	HP:0040281	ORPHA:3258
4038	LRP4	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:98913
4038	LRP4	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98913
4038	LRP4	HP:0003443	Decreased size of nerve terminals	HP:0040282	ORPHA:98913
4038	LRP4	HP:0004736	Crossed fused renal ectopia	HP:0040283	ORPHA:3258
4038	LRP4	HP:0003402	Decreased miniature endplate potentials	HP:0040282	ORPHA:98913
4038	LRP4	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1/1	OMIM:616304
4038	LRP4	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040282	ORPHA:98913
4038	LRP4	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:98913
4038	LRP4	HP:0002194	Delayed gross motor development	1/10	OMIM:212780
4038	LRP4	HP:0002164	Nail dysplasia	1/2	OMIM:614305
4038	LRP4	HP:0010554	Cutaneous finger syndactyly	2/2	OMIM:614305
4038	LRP4	HP:0002273	Tetraparesis	-	OMIM:614305
4038	LRP4	HP:0003577	Congenital onset	1/1	OMIM:616304
4038	LRP4	HP:0003577	Congenital onset	12/12	OMIM:212780
4038	LRP4	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:98913
4038	LRP4	HP:0100798	Fingernail dysplasia	HP:0040281	ORPHA:3152
4038	LRP4	HP:0009701	Metacarpal synostosis	11/12	OMIM:212780
4038	LRP4	HP:0011968	Feeding difficulties	1/1	OMIM:616304
4038	LRP4	HP:0010628	Facial palsy	2/2	OMIM:614305
4038	LRP4	HP:0010628	Facial palsy	HP:0040282	ORPHA:98913
4038	LRP4	HP:0010628	Facial palsy	HP:0040282	ORPHA:3152
4038	LRP4	HP:0003510	Severe short stature	7/7	OMIM:615777
4038	LRP4	HP:0002321	Vertigo	1/2	OMIM:614305
4038	LRP4	HP:0002315	Headache	-	OMIM:131300
4038	LRP4	HP:0004976	Knee dislocation	6/7	OMIM:615777
4038	LRP4	HP:0002329	Drowsiness	HP:0040283	ORPHA:98913
4038	LRP4	HP:0009838	Curved distal phalanges of the hand	HP:0040281	ORPHA:3152
4038	LRP4	HP:0009803	Short phalanx of finger	-	OMIM:615777
4038	LRP4	HP:0009778	Short thumb	HP:0040282	ORPHA:3258
4038	LRP4	HP:0009763	Limb pain	63/92	OMIM:131300
4038	LRP4	HP:0003621	Juvenile onset	-	OMIM:131300
4038	LRP4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4038	LRP4	HP:0009077	Weakness of long finger extensor muscles	HP:0040283	ORPHA:98913
4038	LRP4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4038	LRP4	HP:0000639	Nystagmus	HP:0040283	ORPHA:3258
4038	LRP4	HP:6001056	Out-toeing	-	OMIM:131300
4038	LRP4	HP:0000651	Diplopia	-	OMIM:131300
4038	LRP4	HP:0000651	Diplopia	HP:0040283	ORPHA:98913
4038	LRP4	HP:0000648	Optic atrophy	HP:0040283	ORPHA:3152
4038	LRP4	HP:0001956	Truncal obesity	2/7	OMIM:615777
4038	LRP4	HP:0001903	Anemia	HP:0040283	OMIM:131300
4038	LRP4	HP:0010049	Short metacarpal	-	OMIM:615777
4038	LRP4	HP:0010055	Broad hallux	1/12	OMIM:212780
4038	LRP4	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:3258
4038	LRP4	HP:0000678	Dental crowding	-	OMIM:615777
4038	LRP4	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040282	ORPHA:98913
4038	LRP4	HP:0000656	Ectropion	HP:0040283	ORPHA:3258
4038	LRP4	HP:0000670	Carious teeth	-	OMIM:131300
4038	LRP4	HP:0011304	Broad thumb	2/7	OMIM:615777
4038	LRP4	HP:0000668	Hypodontia	HP:0040283	ORPHA:3258
4038	LRP4	HP:0000668	Hypodontia	-	OMIM:615777
4038	LRP4	HP:0000668	Hypodontia	1/10	OMIM:212780
4038	LRP4	HP:0000664	Synophrys	-	OMIM:615777
4038	LRP4	HP:0005659	Thoracic kyphoscoliosis	HP:0040283	ORPHA:98913
4038	LRP4	HP:0004396	Poor appetite	-	OMIM:131300
4038	LRP4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4038	LRP4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4038	LRP4	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:3258
4038	LRP4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4038	LRP4	HP:0003026	Short long bone	7/7	OMIM:615777
4038	LRP4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4038	LRP4	HP:0003022	Hypoplasia of the ulna	HP:0040282	ORPHA:3258
4038	LRP4	HP:0003022	Hypoplasia of the ulna	7/12	OMIM:212780
4038	LRP4	HP:0000772	Abnormal rib morphology	HP:0040283	ORPHA:3258
4038	LRP4	HP:0000767	Pectus excavatum	1/12	OMIM:212780
4038	LRP4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4038	LRP4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4038	LRP4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4038	LRP4	HP:0000750	Delayed speech and language development	-	OMIM:615777
4038	LRP4	HP:0011461	Fetal onset	7/7	OMIM:615777
4038	LRP4	HP:0012764	Orthopnea	HP:0040283	ORPHA:98913
4038	LRP4	HP:0000774	Narrow chest	2/7	OMIM:615777
4038	LRP4	HP:0003103	Abnormal cortical bone morphology	HP:0040281	ORPHA:3152
4038	LRP4	HP:0003196	Short nose	HP:0040283	ORPHA:3258
4038	LRP4	HP:0000926	Platyspondyly	1/7	OMIM:615777
4038	LRP4	HP:0003180	Flat acetabular roof	-	OMIM:615777
4038	LRP4	HP:0004482	Relative macrocephaly	-	OMIM:615777
4038	LRP4	HP:0004493	Craniofacial hyperostosis	HP:0040281	ORPHA:3152
4038	LRP4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4038	LRP4	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:3258
4038	LRP4	HP:0000823	Delayed puberty	-	OMIM:131300
4038	LRP4	HP:0000894	Short clavicles	-	OMIM:615777
4038	LRP4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4038	LRP4	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:98913
4038	LRP4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4038	LRP4	HP:0000961	Cyanosis	HP:0040283	ORPHA:98913
4038	LRP4	HP:0100240	Synostosis of joints	HP:0040281	ORPHA:3258
4038	LRP4	HP:0009381	Short finger	-	OMIM:614305
4038	LRP4	HP:0000286	Epicanthus	1/7	OMIM:615777
4038	LRP4	HP:0000280	Coarse facial features	2/7	OMIM:615777
4038	LRP4	HP:0000256	Macrocephaly	-	OMIM:614305
4038	LRP4	HP:0000272	Malar flattening	HP:0040283	ORPHA:3258
4038	LRP4	HP:0000272	Malar flattening	7/12	OMIM:212780
4038	LRP4	HP:0002827	Hip dislocation	HP:0040283	ORPHA:3258
4038	LRP4	HP:0002827	Hip dislocation	3/7	OMIM:615777
4038	LRP4	HP:0005048	Synostosis of carpal bones	HP:0040281	ORPHA:3258
4038	LRP4	HP:0000252	Microcephaly	-	OMIM:615777
4038	LRP4	HP:0002878	Respiratory failure	HP:0040283	ORPHA:98913
4038	LRP4	HP:0000218	High palate	HP:0040282	ORPHA:98913
4038	LRP4	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:98913
4038	LRP4	HP:0002857	Genu valgum	-	OMIM:131300
4038	LRP4	HP:0001533	Slender build	-	OMIM:131300
4038	LRP4	HP:0031374	Ankle weakness	HP:0040283	ORPHA:98913
4038	LRP4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4038	LRP4	HP:0007807	Optic nerve compression	-	OMIM:131300
4038	LRP4	HP:0012368	Flat face	7/7	OMIM:615777
4038	LRP4	HP:0002937	Hemivertebrae	1/12	OMIM:212780
4038	LRP4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4038	LRP4	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:3258
4038	LRP4	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040283	ORPHA:98913
4038	LRP4	HP:0030199	Fatigable weakness of neck muscles	HP:0040282	ORPHA:98913
4038	LRP4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:3258
4038	LRP4	HP:0000365	Hearing impairment	1/2	OMIM:614305
4038	LRP4	HP:0000365	Hearing impairment	10/67	OMIM:131300
4038	LRP4	HP:0000366	Abnormality of the nose	HP:0040281	ORPHA:3152
4038	LRP4	HP:0000343	Long philtrum	1/7	OMIM:615777
4038	LRP4	HP:0011001	Increased bone mineral density	-	OMIM:131300
4038	LRP4	HP:0011001	Increased bone mineral density	HP:0040281	ORPHA:3152
4038	LRP4	HP:0000347	Micrognathia	6/12	OMIM:212780
4038	LRP4	HP:0002983	Micromelia	HP:0040283	ORPHA:3258
4038	LRP4	HP:0000316	Hypertelorism	HP:0040282	ORPHA:3258
4038	LRP4	HP:0000316	Hypertelorism	-	OMIM:614305
4038	LRP4	HP:0000316	Hypertelorism	7/12	OMIM:212780
4038	LRP4	HP:0000311	Round face	2/7	OMIM:615777
4038	LRP4	HP:0001642	Pulmonic stenosis	1/12	OMIM:212780
4038	LRP4	HP:0002974	Radioulnar synostosis	HP:0040282	ORPHA:3258
4038	LRP4	HP:0002974	Radioulnar synostosis	7/10	OMIM:212780
4038	LRP4	HP:0000322	Short philtrum	HP:0040283	ORPHA:3258
4038	LRP4	HP:0002984	Hypoplasia of the radius	HP:0040282	ORPHA:3258
4038	LRP4	HP:0002984	Hypoplasia of the radius	7/12	OMIM:212780
4038	LRP4	HP:0000324	Facial asymmetry	1/2	OMIM:614305
4038	LRP4	HP:0002970	Genu varum	-	OMIM:615777
4038	LRP4	HP:0000303	Mandibular prognathia	-	OMIM:131300
4038	LRP4	HP:0000303	Mandibular prognathia	-	OMIM:614305
4038	LRP4	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:3152
4038	LRP4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4038	LRP4	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:3258
4038	LRP4	HP:0000494	Downslanted palpebral fissures	4/12	OMIM:212780
4038	LRP4	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:98913
4038	LRP4	HP:0000470	Short neck	1/7	OMIM:615777
4038	LRP4	HP:0001798	Anonychia	11/12	OMIM:212780
4038	LRP4	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:3258
4038	LRP4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4038	LRP4	HP:0001763	Pes planus	1/7	OMIM:615777
4038	LRP4	HP:0000444	Convex nasal ridge	HP:0040283	ORPHA:3258
4038	LRP4	HP:0000411	Protruding ear	HP:0040283	ORPHA:3258
4038	LRP4	HP:0001849	Foot oligodactyly	HP:0040283	ORPHA:3258
4038	LRP4	HP:0000518	Cataract	HP:0040283	ORPHA:3258
4038	LRP4	HP:0001840	Metatarsus adductus	-	OMIM:615777
4038	LRP4	HP:0000520	Proptosis	HP:0040283	ORPHA:3258
4038	LRP4	HP:0000520	Proptosis	2/4	OMIM:131300
4038	LRP4	HP:0000520	Proptosis	7/7	OMIM:615777
4038	LRP4	HP:0000508	Ptosis	HP:0040282	ORPHA:3152
4038	LRP4	HP:0000508	Ptosis	HP:0040283	ORPHA:3258
4038	LRP4	HP:0000508	Ptosis	HP:0040282	ORPHA:98913
4038	LRP4	HP:0000508	Ptosis	1/1	OMIM:616304
4038	LRP4	HP:0001802	Absent toenail	HP:0040282	ORPHA:3258
4038	LRP4	HP:0001817	Absent fingernail	HP:0040281	ORPHA:3258
4038	LRP4	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:98913
4038	LRP4	HP:0000592	Blue sclerae	2/7	OMIM:615777
4038	LRP4	HP:0011220	Prominent forehead	9/12	OMIM:212780
4038	LRP4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4038	LRP4	HP:0012514	Lower limb pain	4/4	OMIM:131300
4038	LRP4	HP:0012515	Hip flexor weakness	HP:0040283	ORPHA:98913
4040	LRP6	HP:0000006	Autosomal dominant inheritance	-	OMIM:610947
4040	LRP6	HP:0000006	Autosomal dominant inheritance	-	OMIM:616724
4040	LRP6	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:99798
4040	LRP6	HP:0006344	Abnormal primary molar morphology	HP:0040283	ORPHA:99798
4040	LRP6	HP:0006349	Agenesis of permanent teeth	20/26	OMIM:616724
4040	LRP6	HP:0006336	Short dental root	HP:0040282	ORPHA:99798
4040	LRP6	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:99798
4040	LRP6	HP:0006289	Agenesis of central incisor	HP:0040282	ORPHA:99798
4040	LRP6	HP:0005978	Type II diabetes mellitus	11/15	OMIM:610947
4040	LRP6	HP:0040270	Impaired glucose tolerance	-	OMIM:610947
4040	LRP6	HP:0002155	Hypertriglyceridemia	-	OMIM:610947
4040	LRP6	HP:0003581	Adult onset	-	OMIM:610947
4040	LRP6	HP:0001952	Glucose intolerance	-	OMIM:610947
4040	LRP6	HP:0000696	Delayed eruption of permanent teeth	HP:0040282	ORPHA:99798
4040	LRP6	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:99798
4040	LRP6	HP:0000679	Taurodontia	6/28	OMIM:616724
4040	LRP6	HP:0000679	Taurodontia	HP:0040283	ORPHA:99798
4040	LRP6	HP:0000677	Oligodontia	HP:0040280	ORPHA:99798
4040	LRP6	HP:0000691	Microdontia	HP:0040282	ORPHA:99798
4040	LRP6	HP:0000690	Agenesis of maxillary lateral incisor	HP:0040282	ORPHA:99798
4040	LRP6	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:99798
4040	LRP6	HP:0000685	Hypoplasia of teeth	HP:0040283	ORPHA:99798
4040	LRP6	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:99798
4040	LRP6	HP:0001997	Gout	-	OMIM:610947
4040	LRP6	HP:0003141	Increased LDL cholesterol concentration	-	OMIM:610947
4040	LRP6	HP:0000822	Hypertension	-	OMIM:610947
4040	LRP6	HP:0000939	Osteoporosis	-	OMIM:610947
4040	LRP6	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:99798
4040	LRP6	HP:0011078	Abnormality of canine	HP:0040283	ORPHA:99798
4040	LRP6	HP:0011053	Agenesis of mandibular premolar	HP:0040283	ORPHA:99798
4040	LRP6	HP:0011051	Agenesis of premolar	HP:0040282	ORPHA:99798
4040	LRP6	HP:0011056	Agenesis of first permanent molar tooth	HP:0040282	ORPHA:99798
4040	LRP6	HP:0005216	Impaired mastication	HP:0040281	ORPHA:99798
4040	LRP6	HP:0005181	Premature coronary artery atherosclerosis	-	OMIM:610947
4040	LRP6	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:99798
4040	LRP6	HP:0001645	Sudden cardiac death	-	OMIM:610947
4040	LRP6	HP:0001658	Myocardial infarction	-	OMIM:610947
4040	LRP6	HP:0012472	Eclabion	HP:0040283	ORPHA:99798
4040	LRP6	HP:0011219	Short face	HP:0040283	ORPHA:99798
4041	LRP5	HP:0100923	Clavicular sclerosis	HP:0040281	ORPHA:2790
4041	LRP5	HP:0100923	Clavicular sclerosis	-	OMIM:144750
4041	LRP5	HP:0001147	Retinal exudate	3/12	OMIM:133780
4041	LRP5	HP:0001147	Retinal exudate	-	OMIM:601813
4041	LRP5	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
4041	LRP5	HP:0001141	Severely reduced visual acuity	HP:0040283	ORPHA:891
4041	LRP5	HP:0001141	Severely reduced visual acuity	HP:0040282	ORPHA:2788
4041	LRP5	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:90050
4041	LRP5	HP:0001103	Abnormal macular morphology	HP:0040283	ORPHA:90050
4041	LRP5	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4041	LRP5	HP:0001293	Cranial nerve compression	-	OMIM:131300
4041	LRP5	HP:0001270	Motor delay	HP:0040283	ORPHA:891
4041	LRP5	HP:0100832	Vitreous floaters	8/12	OMIM:133780
4041	LRP5	HP:0100832	Vitreous floaters	HP:0040283	ORPHA:891
4041	LRP5	HP:0001256	Intellectual disability, mild	-	OMIM:259770
4041	LRP5	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:891
4041	LRP5	HP:0001252	Hypotonia	-	OMIM:259770
4041	LRP5	HP:0001252	Hypotonia	2/7	OMIM:615777
4041	LRP5	HP:0001249	Intellectual disability	5/7	OMIM:615777
4041	LRP5	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2788
4041	LRP5	HP:0001263	Global developmental delay	1/1	OMIM:612394
4041	LRP5	HP:0001263	Global developmental delay	-	OMIM:615777
4041	LRP5	HP:0100861	Sclerotic vertebral body	HP:0040282	ORPHA:2790
4041	LRP5	HP:0100861	Sclerotic vertebral body	-	OMIM:144750
4041	LRP5	HP:0002515	Waddling gait	54/102	OMIM:131300
4041	LRP5	HP:0002515	Waddling gait	HP:0040282	ORPHA:2788
4041	LRP5	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:178377
4041	LRP5	HP:0003829	Typified by incomplete penetrance	-	OMIM:617875
4041	LRP5	HP:0002505	Loss of ambulation	HP:0040282	ORPHA:2788
4041	LRP5	HP:0012052	Low serum calcitriol	HP:0040282	ORPHA:2788
4041	LRP5	HP:0001382	Joint hypermobility	-	OMIM:259770
4041	LRP5	HP:0001382	Joint hypermobility	-	OMIM:615777
4041	LRP5	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:2788
4041	LRP5	HP:0002684	Thickened calvaria	HP:0040281	ORPHA:178377
4041	LRP5	HP:0002684	Thickened calvaria	-	OMIM:607634
4041	LRP5	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
4041	LRP5	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:178377
4041	LRP5	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4041	LRP5	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4041	LRP5	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
4041	LRP5	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:2924
4041	LRP5	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
4041	LRP5	HP:0006174	Metacarpal diaphyseal endosteal sclerosis	-	OMIM:144750
4041	LRP5	HP:0000002	Abnormality of body height	0/10	OMIM:144750
4041	LRP5	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
4041	LRP5	HP:0002659	Increased susceptibility to fractures	HP:0040281	ORPHA:2788
4041	LRP5	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4041	LRP5	HP:0001324	Muscle weakness	40/96	OMIM:131300
4041	LRP5	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4041	LRP5	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
4041	LRP5	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
4041	LRP5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4041	LRP5	HP:0000007	Autosomal recessive inheritance	-	OMIM:601813
4041	LRP5	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
4041	LRP5	HP:0000006	Autosomal dominant inheritance	-	OMIM:607634
4041	LRP5	HP:0000006	Autosomal dominant inheritance	-	OMIM:617875
4041	LRP5	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
4041	LRP5	HP:0000006	Autosomal dominant inheritance	-	OMIM:133780
4041	LRP5	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4041	LRP5	HP:0000006	Autosomal dominant inheritance	-	OMIM:601813
4041	LRP5	HP:0000006	Autosomal dominant inheritance	-	OMIM:144750
4041	LRP5	HP:0002650	Scoliosis	1/5	OMIM:259770
4041	LRP5	HP:0002650	Scoliosis	1/1	OMIM:612394
4041	LRP5	HP:0002650	Scoliosis	12/14	OMIM:131300
4041	LRP5	HP:0002645	Wormian bones	HP:0040283	ORPHA:2788
4041	LRP5	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4041	LRP5	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:607634
4041	LRP5	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:144750
4041	LRP5	HP:0002617	Vascular dilatation	HP:0040283	ORPHA:2924
4041	LRP5	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4041	LRP5	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4041	LRP5	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4041	LRP5	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
4041	LRP5	HP:0001493	Falciform retinal fold	4/12	OMIM:133780
4041	LRP5	HP:0001493	Falciform retinal fold	HP:0040282	ORPHA:891
4041	LRP5	HP:0001493	Falciform retinal fold	-	OMIM:601813
4041	LRP5	HP:0001489	Posterior vitreous detachment	-	OMIM:133780
4041	LRP5	HP:0001489	Posterior vitreous detachment	-	OMIM:601813
4041	LRP5	HP:0000175	Cleft palate	2/7	OMIM:615777
4041	LRP5	HP:0007685	Peripheral retinal avascularization	14/14	OMIM:133780
4041	LRP5	HP:0007685	Peripheral retinal avascularization	HP:0040281	ORPHA:891
4041	LRP5	HP:0007685	Peripheral retinal avascularization	-	OMIM:601813
4041	LRP5	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
4041	LRP5	HP:0005019	Diaphyseal undertubulation	HP:0040281	ORPHA:2790
4041	LRP5	HP:0005019	Diaphyseal undertubulation	HP:0040281	ORPHA:3416
4041	LRP5	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
4041	LRP5	HP:0007663	Reduced visual acuity	-	OMIM:601813
4041	LRP5	HP:0007663	Reduced visual acuity	12/14	OMIM:133780
4041	LRP5	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:90050
4041	LRP5	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:891
4041	LRP5	HP:0008947	Floppy infant	HP:0040282	ORPHA:2788
4041	LRP5	HP:0500049	Retinopathy of prematurity	HP:0040281	ORPHA:90050
4041	LRP5	HP:0012109	Angle closure glaucoma	HP:0040282	ORPHA:2788
4041	LRP5	HP:0033842	Early satiety	HP:0040282	ORPHA:2924
4041	LRP5	HP:0002757	Recurrent fractures	-	OMIM:133780
4041	LRP5	HP:0002757	Recurrent fractures	4/5	OMIM:259770
4041	LRP5	HP:0002757	Recurrent fractures	0/10	OMIM:607634
4041	LRP5	HP:0002756	Pathologic fracture	-	OMIM:259770
4041	LRP5	HP:0002756	Pathologic fracture	1/1	OMIM:612394
4041	LRP5	HP:0000107	Renal cyst	14/25	OMIM:617875
4041	LRP5	HP:0001407	Hepatic cysts	19/25	OMIM:617875
4041	LRP5	HP:0002751	Kyphoscoliosis	-	OMIM:259770
4041	LRP5	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
4041	LRP5	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:2924
4041	LRP5	HP:0003366	Abnormal femoral neck/head morphology	HP:0040283	ORPHA:2788
4041	LRP5	HP:0002027	Abdominal pain	HP:0040283	ORPHA:2924
4041	LRP5	HP:0002007	Frontal bossing	HP:0040283	ORPHA:2788
4041	LRP5	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:2790
4041	LRP5	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:2924
4041	LRP5	HP:0002094	Dyspnea	HP:0040283	ORPHA:2924
4041	LRP5	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:2924
4041	LRP5	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
4041	LRP5	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040283	ORPHA:2924
4041	LRP5	HP:0003388	Easy fatigability	36/76	OMIM:131300
4041	LRP5	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4041	LRP5	HP:0008114	Metatarsal diaphyseal endosteal sclerosis	-	OMIM:144750
4041	LRP5	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
4041	LRP5	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
4041	LRP5	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
4041	LRP5	HP:0003418	Back pain	HP:0040283	ORPHA:2924
4041	LRP5	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:2788
4041	LRP5	HP:0002164	Nail dysplasia	1/1	OMIM:612394
4041	LRP5	HP:0010557	Overlapping fingers	1/2	OMIM:612394
4041	LRP5	HP:0008236	Isosexual precocious puberty	HP:0040284	ORPHA:2788
4041	LRP5	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
4041	LRP5	HP:0003593	Infantile onset	1/2	OMIM:133780
4041	LRP5	HP:0003593	Infantile onset	1/5	OMIM:259770
4041	LRP5	HP:0003593	Infantile onset	-	OMIM:601813
4041	LRP5	HP:0003577	Congenital onset	4/5	OMIM:259770
4041	LRP5	HP:0003573	Increased total bilirubin	HP:0040283	ORPHA:2924
4041	LRP5	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2924
4041	LRP5	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:2924
4041	LRP5	HP:0003581	Adult onset	1/2	OMIM:133780
4041	LRP5	HP:0002208	Coarse hair	1/1	OMIM:612394
4041	LRP5	HP:0100774	Hyperostosis	-	OMIM:144750
4041	LRP5	HP:0100789	Torus palatinus	3/10	OMIM:607634
4041	LRP5	HP:0100789	Torus palatinus	HP:0040281	ORPHA:2790
4041	LRP5	HP:0100789	Torus palatinus	-	OMIM:144750
4041	LRP5	HP:0010628	Facial palsy	HP:0040282	ORPHA:3416
4041	LRP5	HP:0010628	Facial palsy	HP:0040283	ORPHA:2790
4041	LRP5	HP:0010628	Facial palsy	HP:0040283	ORPHA:178377
4041	LRP5	HP:0003510	Severe short stature	7/7	OMIM:615777
4041	LRP5	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
4041	LRP5	HP:0025019	Arterial rupture	1/1	OMIM:612394
4041	LRP5	HP:0025007	Ectopic fovea	4/12	OMIM:133780
4041	LRP5	HP:0001004	Lymphedema	HP:0040283	ORPHA:891
4041	LRP5	HP:0003677	Slowly progressive	-	OMIM:133780
4041	LRP5	HP:0002315	Headache	-	OMIM:131300
4041	LRP5	HP:0002315	Headache	HP:0040283	ORPHA:178377
4041	LRP5	HP:0002315	Headache	2/10	OMIM:607634
4041	LRP5	HP:0004976	Knee dislocation	6/7	OMIM:615777
4041	LRP5	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
4041	LRP5	HP:0200025	Mandibular pain	1/10	OMIM:607634
4041	LRP5	HP:0009803	Short phalanx of finger	-	OMIM:615777
4041	LRP5	HP:0001089	Iris atrophy	-	OMIM:259770
4041	LRP5	HP:0010741	Pedal edema	HP:0040283	ORPHA:2924
4041	LRP5	HP:0009763	Limb pain	63/92	OMIM:131300
4041	LRP5	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
4041	LRP5	HP:0003621	Juvenile onset	8/19	OMIM:180100
4041	LRP5	HP:0003621	Juvenile onset	-	OMIM:131300
4041	LRP5	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
4041	LRP5	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:2924
4041	LRP5	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4041	LRP5	HP:0030503	Macular telangiectasia	HP:0040283	ORPHA:891
4041	LRP5	HP:0030515	Moderately reduced visual acuity	HP:0040284	ORPHA:2788
4041	LRP5	HP:0030551	Visual acuity light perception with projection	HP:0040283	ORPHA:2788
4041	LRP5	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4041	LRP5	HP:0005562	Multiple renal cysts	HP:0040282	ORPHA:2924
4041	LRP5	HP:0000639	Nystagmus	HP:0040283	ORPHA:2790
4041	LRP5	HP:6001056	Out-toeing	-	OMIM:131300
4041	LRP5	HP:0000651	Diplopia	-	OMIM:131300
4041	LRP5	HP:0000646	Amblyopia	HP:0040283	ORPHA:90050
4041	LRP5	HP:0000648	Optic atrophy	HP:0040283	ORPHA:178377
4041	LRP5	HP:0000618	Blindness	-	OMIM:133780
4041	LRP5	HP:0000618	Blindness	HP:0040283	ORPHA:90050
4041	LRP5	HP:0000618	Blindness	5/5	OMIM:259770
4041	LRP5	HP:0000618	Blindness	-	OMIM:601813
4041	LRP5	HP:0000618	Blindness	HP:0040283	ORPHA:891
4041	LRP5	HP:0001956	Truncal obesity	2/7	OMIM:615777
4041	LRP5	HP:0001903	Anemia	HP:0040283	OMIM:131300
4041	LRP5	HP:0010049	Short metacarpal	-	OMIM:615777
4041	LRP5	HP:0030490	Exudative vitreoretinopathy	HP:0040282	ORPHA:2788
4041	LRP5	HP:0030490	Exudative vitreoretinopathy	1/2	OMIM:133780
4041	LRP5	HP:0030490	Exudative vitreoretinopathy	-	OMIM:601813
4041	LRP5	HP:0030496	Macular exudate	HP:0040283	ORPHA:891
4041	LRP5	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:178377
4041	LRP5	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:891
4041	LRP5	HP:0000678	Dental crowding	-	OMIM:615777
4041	LRP5	HP:0000689	Dental malocclusion	-	OMIM:144750
4041	LRP5	HP:0000662	Nyctalopia	26/28	OMIM:180100
4041	LRP5	HP:0000670	Carious teeth	-	OMIM:131300
4041	LRP5	HP:0011304	Broad thumb	2/7	OMIM:615777
4041	LRP5	HP:0000668	Hypodontia	-	OMIM:615777
4041	LRP5	HP:0000667	Phthisis bulbi	-	OMIM:259770
4041	LRP5	HP:0000664	Synophrys	-	OMIM:615777
4041	LRP5	HP:0004322	Short stature	HP:0040283	ORPHA:2788
4041	LRP5	HP:0004322	Short stature	-	OMIM:259770
4041	LRP5	HP:0004327	Abnormal vitreous humor morphology	HP:0040282	ORPHA:2788
4041	LRP5	HP:0030666	Retinal neovascularization	0/2	OMIM:133780
4041	LRP5	HP:0030666	Retinal neovascularization	HP:0040282	ORPHA:891
4041	LRP5	HP:0006934	Congenital nystagmus	HP:0040283	ORPHA:2788
4041	LRP5	HP:0030680	Abnormal cardiovascular system morphology	HP:0040284	ORPHA:2788
4041	LRP5	HP:0004396	Poor appetite	-	OMIM:131300
4041	LRP5	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4041	LRP5	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4041	LRP5	HP:0003016	Metaphyseal widening	-	OMIM:259770
4041	LRP5	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4041	LRP5	HP:0003016	Metaphyseal widening	HP:0040282	ORPHA:2788
4041	LRP5	HP:0003026	Short long bone	7/7	OMIM:615777
4041	LRP5	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4041	LRP5	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:891
4041	LRP5	HP:0100014	Epiretinal membrane	HP:0040283	ORPHA:891
4041	LRP5	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:2790
4041	LRP5	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4041	LRP5	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4041	LRP5	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4041	LRP5	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:2788
4041	LRP5	HP:0000750	Delayed speech and language development	-	OMIM:615777
4041	LRP5	HP:0012795	Abnormal optic disc morphology	HP:0040282	ORPHA:891
4041	LRP5	HP:0011463	Childhood onset	3/19	OMIM:180100
4041	LRP5	HP:0011462	Young adult onset	8/19	OMIM:180100
4041	LRP5	HP:0011461	Fetal onset	7/7	OMIM:615777
4041	LRP5	HP:0011461	Fetal onset	2/2	OMIM:612394
4041	LRP5	HP:0000774	Narrow chest	2/7	OMIM:615777
4041	LRP5	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
4041	LRP5	HP:0004437	Cranial hyperostosis	HP:0040281	ORPHA:3416
4041	LRP5	HP:0003103	Abnormal cortical bone morphology	HP:0040281	ORPHA:2790
4041	LRP5	HP:0003103	Abnormal cortical bone morphology	HP:0040281	ORPHA:3416
4041	LRP5	HP:0004425	Flat forehead	-	OMIM:144750
4041	LRP5	HP:0003196	Short nose	1/1	OMIM:612394
4041	LRP5	HP:0000925	Abnormality of the vertebral column	-	OMIM:607634
4041	LRP5	HP:0000926	Platyspondyly	-	OMIM:259770
4041	LRP5	HP:0000926	Platyspondyly	1/7	OMIM:615777
4041	LRP5	HP:0000926	Platyspondyly	1/1	OMIM:612394
4041	LRP5	HP:0003180	Flat acetabular roof	-	OMIM:615777
4041	LRP5	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040283	ORPHA:2924
4041	LRP5	HP:0004482	Relative macrocephaly	-	OMIM:615777
4041	LRP5	HP:0004493	Craniofacial hyperostosis	HP:0040281	ORPHA:2790
4041	LRP5	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4041	LRP5	HP:0005789	Generalized osteosclerosis	HP:0040281	ORPHA:3416
4041	LRP5	HP:0005789	Generalized osteosclerosis	-	OMIM:607634
4041	LRP5	HP:0005789	Generalized osteosclerosis	HP:0040281	ORPHA:2790
4041	LRP5	HP:0003148	Elevated serum acid phosphatase	0/10	OMIM:607634
4041	LRP5	HP:0011530	Retinal hole	4/14	OMIM:133780
4041	LRP5	HP:0000889	Abnormal clavicle morphology	HP:0040281	ORPHA:3416
4041	LRP5	HP:0012802	Broad jaw	HP:0040281	ORPHA:178377
4041	LRP5	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
4041	LRP5	HP:0000823	Delayed puberty	-	OMIM:131300
4041	LRP5	HP:0040049	Macular edema	HP:0040283	ORPHA:891
4041	LRP5	HP:0040069	Abnormal lower limb bone morphology	HP:0040282	ORPHA:2788
4041	LRP5	HP:0000894	Short clavicles	-	OMIM:615777
4041	LRP5	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
4041	LRP5	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4041	LRP5	HP:0003270	Abdominal distention	HP:0040281	ORPHA:2924
4041	LRP5	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
4041	LRP5	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
4041	LRP5	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4041	LRP5	HP:0000952	Jaundice	HP:0040283	ORPHA:2924
4041	LRP5	HP:0000939	Osteoporosis	4/5	OMIM:259770
4041	LRP5	HP:0000939	Osteoporosis	HP:0040281	ORPHA:2788
4041	LRP5	HP:0000935	Thickened cortex of long bones	4/10	OMIM:607634
4041	LRP5	HP:0000935	Thickened cortex of long bones	-	OMIM:144750
4041	LRP5	HP:0000938	Osteopenia	-	OMIM:601813
4041	LRP5	HP:0000938	Osteopenia	1/5	OMIM:259770
4041	LRP5	HP:0000938	Osteopenia	1/1	OMIM:612394
4041	LRP5	HP:0000938	Osteopenia	HP:0040282	ORPHA:2788
4041	LRP5	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:90050
4041	LRP5	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
4041	LRP5	HP:0000286	Epicanthus	1/7	OMIM:615777
4041	LRP5	HP:0000280	Coarse facial features	2/7	OMIM:615777
4041	LRP5	HP:0000256	Macrocephaly	HP:0040281	ORPHA:178377
4041	LRP5	HP:0000272	Malar flattening	1/1	OMIM:612394
4041	LRP5	HP:0007773	Vitreoretinopathy	HP:0040280	ORPHA:891
4041	LRP5	HP:0007773	Vitreoretinopathy	-	OMIM:259770
4041	LRP5	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
4041	LRP5	HP:0002827	Hip dislocation	3/7	OMIM:615777
4041	LRP5	HP:0002808	Kyphosis	1/5	OMIM:259770
4041	LRP5	HP:0006367	Crumpled long bones	HP:0040282	ORPHA:2788
4041	LRP5	HP:0012230	Rhegmatogenous retinal detachment	HP:0040283	ORPHA:891
4041	LRP5	HP:0000252	Microcephaly	-	OMIM:259770
4041	LRP5	HP:0000252	Microcephaly	HP:0040283	ORPHA:891
4041	LRP5	HP:0000252	Microcephaly	-	OMIM:615777
4041	LRP5	HP:0000248	Brachycephaly	HP:0040281	ORPHA:178377
4041	LRP5	HP:0001552	Barrel-shaped chest	-	OMIM:259770
4041	LRP5	HP:0002857	Genu valgum	-	OMIM:131300
4041	LRP5	HP:0001533	Slender build	-	OMIM:131300
4041	LRP5	HP:0001507	Growth abnormality	-	OMIM:144750
4041	LRP5	HP:0001518	Small for gestational age	HP:0040281	ORPHA:90050
4041	LRP5	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4041	LRP5	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
4041	LRP5	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
4041	LRP5	HP:0007807	Optic nerve compression	-	OMIM:131300
4041	LRP5	HP:0007811	Horizontal pendular nystagmus	-	OMIM:601813
4041	LRP5	HP:0031526	Subretinal fluid	HP:0040282	ORPHA:891
4041	LRP5	HP:0000384	Preauricular skin tag	HP:0040284	ORPHA:2788
4041	LRP5	HP:0012368	Flat face	7/7	OMIM:615777
4041	LRP5	HP:0012368	Flat face	1/1	OMIM:612394
4041	LRP5	HP:0007898	Exudative retinopathy	HP:0040282	ORPHA:2788
4041	LRP5	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
4041	LRP5	HP:0006557	Polycystic liver disease	HP:0040281	ORPHA:2924
4041	LRP5	HP:0007875	Congenital blindness	HP:0040282	ORPHA:2788
4041	LRP5	HP:0007875	Congenital blindness	4/5	OMIM:259770
4041	LRP5	HP:0007862	Retinal calcification	1/5	OMIM:259770
4041	LRP5	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4041	LRP5	HP:0000365	Hearing impairment	HP:0040283	ORPHA:178377
4041	LRP5	HP:0000365	Hearing impairment	HP:0040283	ORPHA:891
4041	LRP5	HP:0000365	Hearing impairment	10/67	OMIM:131300
4041	LRP5	HP:0000369	Low-set ears	2/2	OMIM:612394
4041	LRP5	HP:0000343	Long philtrum	1/7	OMIM:615777
4041	LRP5	HP:0011002	Osteopetrosis	-	OMIM:607634
4041	LRP5	HP:0011001	Increased bone mineral density	HP:0040281	ORPHA:178377
4041	LRP5	HP:0011001	Increased bone mineral density	-	OMIM:131300
4041	LRP5	HP:0000337	Broad forehead	HP:0040281	ORPHA:178377
4041	LRP5	HP:0000348	High forehead	HP:0040281	ORPHA:178377
4041	LRP5	HP:0002982	Tibial bowing	1/5	OMIM:259770
4041	LRP5	HP:0000316	Hypertelorism	HP:0040281	ORPHA:178377
4041	LRP5	HP:0000311	Round face	2/7	OMIM:615777
4041	LRP5	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:2924
4041	LRP5	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
4041	LRP5	HP:0001629	Ventricular septal defect	-	OMIM:259770
4041	LRP5	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
4041	LRP5	HP:0001622	Premature birth	HP:0040281	ORPHA:90050
4041	LRP5	HP:0002970	Genu varum	-	OMIM:615777
4041	LRP5	HP:0000307	Pointed chin	1/2	OMIM:612394
4041	LRP5	HP:0000303	Mandibular prognathia	-	OMIM:131300
4041	LRP5	HP:0000303	Mandibular prognathia	HP:0040281	ORPHA:3416
4041	LRP5	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:2790
4041	LRP5	HP:0007957	Corneal opacity	HP:0040282	ORPHA:2788
4041	LRP5	HP:0007917	Tractional retinal detachment	HP:0040282	ORPHA:891
4041	LRP5	HP:0007917	Tractional retinal detachment	HP:0040283	ORPHA:90050
4041	LRP5	HP:0007917	Tractional retinal detachment	-	OMIM:601813
4041	LRP5	HP:0007902	Vitreous hemorrhage	-	OMIM:133780
4041	LRP5	HP:0007902	Vitreous hemorrhage	HP:0040283	ORPHA:891
4041	LRP5	HP:0007902	Vitreous hemorrhage	HP:0040283	ORPHA:90050
4041	LRP5	HP:0007902	Vitreous hemorrhage	-	OMIM:601813
4041	LRP5	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:3416
4041	LRP5	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2790
4041	LRP5	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
4041	LRP5	HP:0000407	Sensorineural hearing impairment	-	OMIM:144750
4041	LRP5	HP:0000405	Conductive hearing impairment	-	OMIM:607634
4041	LRP5	HP:0001732	Abnormality of the pancreas	HP:0040283	ORPHA:2924
4041	LRP5	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4041	LRP5	HP:0000486	Strabismus	HP:0040283	ORPHA:90050
4041	LRP5	HP:0000463	Anteverted nares	1/1	OMIM:612394
4041	LRP5	HP:0000470	Short neck	1/7	OMIM:615777
4041	LRP5	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4041	LRP5	HP:0001763	Pes planus	1/7	OMIM:615777
4041	LRP5	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
4041	LRP5	HP:0005450	Calvarial osteosclerosis	3/10	OMIM:607634
4041	LRP5	HP:0000518	Cataract	1/5	OMIM:259770
4041	LRP5	HP:0000518	Cataract	HP:0040283	ORPHA:891
4041	LRP5	HP:0000518	Cataract	HP:0040283	ORPHA:90050
4041	LRP5	HP:0000518	Cataract	1/1	OMIM:612394
4041	LRP5	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
4041	LRP5	HP:0001840	Metatarsus adductus	-	OMIM:615777
4041	LRP5	HP:0000520	Proptosis	2/4	OMIM:131300
4041	LRP5	HP:0000520	Proptosis	7/7	OMIM:615777
4041	LRP5	HP:0000523	Subcapsular cataract	-	OMIM:133780
4041	LRP5	HP:0000523	Subcapsular cataract	-	OMIM:601813
4041	LRP5	HP:0000505	Visual impairment	HP:0040283	ORPHA:178377
4041	LRP5	HP:0000501	Glaucoma	HP:0040283	ORPHA:90050
4041	LRP5	HP:0000575	Scotoma	5/18	OMIM:180100
4041	LRP5	HP:0000592	Blue sclerae	2/7	OMIM:615777
4041	LRP5	HP:0000592	Blue sclerae	HP:0040284	ORPHA:2788
4041	LRP5	HP:0000586	Shallow orbits	1/1	OMIM:612394
4041	LRP5	HP:0000568	Microphthalmia	1/5	OMIM:259770
4041	LRP5	HP:0000568	Microphthalmia	HP:0040283	ORPHA:2788
4041	LRP5	HP:0000568	Microphthalmia	HP:0040283	ORPHA:891
4041	LRP5	HP:0000565	Esotropia	1/2	OMIM:133780
4041	LRP5	HP:0000541	Retinal detachment	6/16	OMIM:133780
4041	LRP5	HP:0000541	Retinal detachment	HP:0040282	ORPHA:2788
4041	LRP5	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4041	LRP5	HP:0000533	Chorioretinal atrophy	HP:0040283	ORPHA:891
4041	LRP5	HP:0012514	Lower limb pain	4/4	OMIM:131300
4041	LRP5	HP:0000543	Optic disc pallor	1/1	OMIM:180100
4041	LRP5	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
4041	LRP5	HP:0000545	Myopia	-	OMIM:180100
4041	LRP5	HP:0000545	Myopia	HP:0040283	ORPHA:90050
4041	LRP5	HP:0000545	Myopia	1/1	OMIM:612394
4043	LRPAP1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
4043	LRPAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
4043	LRPAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615431
4043	LRPAP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
4043	LRPAP1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
4043	LRPAP1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
4043	LRPAP1	HP:0007663	Reduced visual acuity	-	OMIM:615431
4043	LRPAP1	HP:0003621	Juvenile onset	8/19	OMIM:180100
4043	LRPAP1	HP:0000662	Nyctalopia	26/28	OMIM:180100
4043	LRPAP1	HP:0011463	Childhood onset	3/19	OMIM:180100
4043	LRPAP1	HP:0011462	Young adult onset	8/19	OMIM:180100
4043	LRPAP1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
4043	LRPAP1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
4043	LRPAP1	HP:0007800	Increased axial length of the globe	-	OMIM:615431
4043	LRPAP1	HP:0011003	High myopia	-	OMIM:615431
4043	LRPAP1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
4043	LRPAP1	HP:0000505	Visual impairment	-	OMIM:615431
4043	LRPAP1	HP:0000575	Scotoma	5/18	OMIM:180100
4043	LRPAP1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
4043	LRPAP1	HP:0000545	Myopia	-	OMIM:180100
4047	LSS	HP:0001171	Split hand	HP:0040282	ORPHA:2850
4047	LSS	HP:0001156	Brachydactyly	HP:0040282	ORPHA:2850
4047	LSS	HP:0001250	Seizure	HP:0040282	ORPHA:2850
4047	LSS	HP:0001250	Seizure	7/11	OMIM:618840
4047	LSS	HP:0001252	Hypotonia	HP:0040281	ORPHA:2850
4047	LSS	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2850
4047	LSS	HP:0001249	Intellectual disability	11/11	OMIM:618840
4047	LSS	HP:0007418	Alopecia totalis	HP:0040281	ORPHA:1366
4047	LSS	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:2850
4047	LSS	HP:0008689	Bilateral cryptorchidism	1/6	OMIM:618840
4047	LSS	HP:0001371	Flexion contracture	HP:0040283	ORPHA:2850
4047	LSS	HP:0000054	Micropenis	1/6	OMIM:618840
4047	LSS	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1366
4047	LSS	HP:0000047	Hypospadias	2/6	OMIM:618840
4047	LSS	HP:0000007	Autosomal recessive inheritance	-	OMIM:616509
4047	LSS	HP:0000007	Autosomal recessive inheritance	-	OMIM:618275
4047	LSS	HP:0000007	Autosomal recessive inheritance	-	OMIM:618840
4047	LSS	HP:0002650	Scoliosis	HP:0040283	ORPHA:2850
4047	LSS	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:1366
4047	LSS	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2850
4047	LSS	HP:0002079	Hypoplasia of the corpus callosum	3/10	OMIM:618840
4047	LSS	HP:0011842	Abnormal skeletal morphology	HP:0040282	ORPHA:2850
4047	LSS	HP:0003577	Congenital onset	4/4	OMIM:616509
4047	LSS	HP:0003577	Congenital onset	2/2	OMIM:618275
4047	LSS	HP:0003577	Congenital onset	10/11	OMIM:618840
4047	LSS	HP:0002221	Absent axillary hair	4/6	OMIM:618275
4047	LSS	HP:0002231	Sparse body hair	HP:0040281	ORPHA:2850
4047	LSS	HP:0002231	Sparse body hair	HP:0040281	ORPHA:55654
4047	LSS	HP:0002231	Sparse body hair	2/6	OMIM:618275
4047	LSS	HP:0002225	Sparse pubic hair	4/6	OMIM:618275
4047	LSS	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:2850
4047	LSS	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:55654
4047	LSS	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:1366
4047	LSS	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2850
4047	LSS	HP:0001019	Erythroderma	-	OMIM:618840
4047	LSS	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:1366
4047	LSS	HP:0200012	Short corpus callosum	HP:0040282	ORPHA:2850
4047	LSS	HP:0010764	Short eyelashes	2/6	OMIM:618275
4047	LSS	HP:0003623	Neonatal onset	1/11	OMIM:618840
4047	LSS	HP:0000613	Photophobia	HP:0040282	ORPHA:2850
4047	LSS	HP:0000653	Sparse eyelashes	HP:0040281	ORPHA:55654
4047	LSS	HP:0004322	Short stature	HP:0040282	ORPHA:2850
4047	LSS	HP:0031936	Delayed ability to walk	-	OMIM:618840
4047	LSS	HP:0000750	Delayed speech and language development	9/11	OMIM:618840
4047	LSS	HP:0000713	Agitation	1/11	OMIM:618840
4047	LSS	HP:0000729	Autistic behavior	-	OMIM:618840
4047	LSS	HP:0000815	Hypergonadotropic hypogonadism	HP:0040282	ORPHA:2850
4047	LSS	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:55654
4047	LSS	HP:0000987	Atypical scarring of skin	HP:0040281	ORPHA:1366
4047	LSS	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:1366
4047	LSS	HP:0008070	Sparse hair	HP:0040282	ORPHA:55654
4047	LSS	HP:0008070	Sparse hair	6/6	OMIM:618275
4047	LSS	HP:0008064	Ichthyosis	HP:0040282	ORPHA:2850
4047	LSS	HP:0008064	Ichthyosis	-	OMIM:618840
4047	LSS	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:1366
4047	LSS	HP:0001596	Alopecia	HP:0040281	ORPHA:2850
4047	LSS	HP:0001596	Alopecia	HP:0040281	ORPHA:55654
4047	LSS	HP:0001596	Alopecia	11/11	OMIM:618840
4047	LSS	HP:0005105	Abnormal nasal morphology	HP:0040283	ORPHA:2850
4047	LSS	HP:0000252	Microcephaly	HP:0040281	ORPHA:2850
4047	LSS	HP:0000252	Microcephaly	3/11	OMIM:618840
4047	LSS	HP:0001510	Growth delay	HP:0040282	ORPHA:2850
4047	LSS	HP:0000365	Hearing impairment	HP:0040281	ORPHA:2850
4047	LSS	HP:0000400	Macrotia	HP:0040283	ORPHA:2850
4047	LSS	HP:0000518	Cataract	HP:0040281	ORPHA:1366
4047	LSS	HP:0000519	Developmental cataract	4/4	OMIM:616509
4047	LSS	HP:0000505	Visual impairment	HP:0040281	ORPHA:1366
4047	LSS	HP:0000572	Visual loss	-	OMIM:616509
4052	LTBP1	HP:0001156	Brachydactyly	7/8	OMIM:619451
4052	LTBP1	HP:0001159	Syndactyly	5/8	OMIM:619451
4052	LTBP1	HP:0025167	Fragmented elastic fibers in the dermis	HP:0040281	ORPHA:90349
4052	LTBP1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4052	LTBP1	HP:0001293	Cranial nerve compression	-	OMIM:131300
4052	LTBP1	HP:0001270	Motor delay	HP:0040282	ORPHA:90349
4052	LTBP1	HP:0001252	Hypotonia	2/7	OMIM:615777
4052	LTBP1	HP:0001249	Intellectual disability	5/7	OMIM:615777
4052	LTBP1	HP:0001263	Global developmental delay	-	OMIM:615777
4052	LTBP1	HP:0008722	Urethral diverticulum	HP:0040283	ORPHA:90349
4052	LTBP1	HP:0002553	Highly arched eyebrow	6/8	OMIM:619451
4052	LTBP1	HP:0002515	Waddling gait	54/102	OMIM:131300
4052	LTBP1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:90349
4052	LTBP1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:90349
4052	LTBP1	HP:0001382	Joint hypermobility	4/8	OMIM:619451
4052	LTBP1	HP:0001382	Joint hypermobility	-	OMIM:615777
4052	LTBP1	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:90349
4052	LTBP1	HP:0000023	Inguinal hernia	5/8	OMIM:619451
4052	LTBP1	HP:0001363	Craniosynostosis	6/8	OMIM:619451
4052	LTBP1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4052	LTBP1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4052	LTBP1	HP:0006191	Deep palmar crease	7/8	OMIM:619451
4052	LTBP1	HP:0001328	Specific learning disability	3/7	OMIM:619451
4052	LTBP1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4052	LTBP1	HP:0001324	Muscle weakness	40/96	OMIM:131300
4052	LTBP1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:90349
4052	LTBP1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4052	LTBP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619451
4052	LTBP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4052	LTBP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4052	LTBP1	HP:0002650	Scoliosis	2/8	OMIM:619451
4052	LTBP1	HP:0002650	Scoliosis	12/14	OMIM:131300
4052	LTBP1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4052	LTBP1	HP:0002617	Vascular dilatation	HP:0040283	ORPHA:90349
4052	LTBP1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4052	LTBP1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4052	LTBP1	HP:0000179	Thick lower lip vermilion	7/8	OMIM:619451
4052	LTBP1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4052	LTBP1	HP:0000175	Cleft palate	2/7	OMIM:615777
4052	LTBP1	HP:0002756	Pathologic fracture	HP:0040282	ORPHA:90349
4052	LTBP1	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:90349
4052	LTBP1	HP:0003300	Ovoid vertebral bodies	1/8	OMIM:619451
4052	LTBP1	HP:0002097	Emphysema	HP:0040281	ORPHA:90349
4052	LTBP1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:90349
4052	LTBP1	HP:0003388	Easy fatigability	36/76	OMIM:131300
4052	LTBP1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4052	LTBP1	HP:0002107	Pneumothorax	HP:0040282	ORPHA:90349
4052	LTBP1	HP:0003593	Infantile onset	2/8	OMIM:619451
4052	LTBP1	HP:0003577	Congenital onset	5/8	OMIM:619451
4052	LTBP1	HP:0002256	Small bowel diverticula	HP:0040283	ORPHA:90349
4052	LTBP1	HP:0100790	Hernia	HP:0040282	ORPHA:90349
4052	LTBP1	HP:0011968	Feeding difficulties	3/8	OMIM:619451
4052	LTBP1	HP:0003510	Severe short stature	7/7	OMIM:615777
4052	LTBP1	HP:0002315	Headache	-	OMIM:131300
4052	LTBP1	HP:0004976	Knee dislocation	6/7	OMIM:615777
4052	LTBP1	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:90349
4052	LTBP1	HP:0009803	Short phalanx of finger	-	OMIM:615777
4052	LTBP1	HP:0032153	Joint subluxation	HP:0040282	ORPHA:90349
4052	LTBP1	HP:0010750	Dermatochalasis	HP:0040281	ORPHA:90349
4052	LTBP1	HP:0009763	Limb pain	63/92	OMIM:131300
4052	LTBP1	HP:0003623	Neonatal onset	1/8	OMIM:619451
4052	LTBP1	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:90349
4052	LTBP1	HP:0003621	Juvenile onset	-	OMIM:131300
4052	LTBP1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4052	LTBP1	HP:0004209	Clinodactyly of the 5th finger	7/8	OMIM:619451
4052	LTBP1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4052	LTBP1	HP:6001056	Out-toeing	-	OMIM:131300
4052	LTBP1	HP:0000651	Diplopia	-	OMIM:131300
4052	LTBP1	HP:0012619	Multiple bladder diverticula	HP:0040283	ORPHA:90349
4052	LTBP1	HP:0001956	Truncal obesity	2/7	OMIM:615777
4052	LTBP1	HP:0001903	Anemia	HP:0040283	OMIM:131300
4052	LTBP1	HP:0010049	Short metacarpal	-	OMIM:615777
4052	LTBP1	HP:0000678	Dental crowding	-	OMIM:615777
4052	LTBP1	HP:0000670	Carious teeth	-	OMIM:131300
4052	LTBP1	HP:0011304	Broad thumb	2/7	OMIM:615777
4052	LTBP1	HP:0000668	Hypodontia	-	OMIM:615777
4052	LTBP1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:90349
4052	LTBP1	HP:0000664	Synophrys	-	OMIM:615777
4052	LTBP1	HP:0004322	Short stature	8/8	OMIM:619451
4052	LTBP1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:90349
4052	LTBP1	HP:0004381	Supravalvular aortic stenosis	HP:0040283	ORPHA:90349
4052	LTBP1	HP:0004396	Poor appetite	-	OMIM:131300
4052	LTBP1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4052	LTBP1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4052	LTBP1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4052	LTBP1	HP:0003026	Short long bone	7/7	OMIM:615777
4052	LTBP1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4052	LTBP1	HP:0000767	Pectus excavatum	1/8	OMIM:619451
4052	LTBP1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4052	LTBP1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4052	LTBP1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4052	LTBP1	HP:0000750	Delayed speech and language development	-	OMIM:615777
4052	LTBP1	HP:0011461	Fetal onset	7/7	OMIM:615777
4052	LTBP1	HP:0000774	Narrow chest	2/7	OMIM:615777
4052	LTBP1	HP:0004426	Abnormal cheek morphology	HP:0040282	ORPHA:90349
4052	LTBP1	HP:0000929	Abnormal skull morphology	HP:0040283	ORPHA:90349
4052	LTBP1	HP:0034271	Copper beaten skull	8/8	OMIM:619451
4052	LTBP1	HP:0034273	Premature sagging cheeks	7/8	OMIM:619451
4052	LTBP1	HP:0000926	Platyspondyly	1/7	OMIM:615777
4052	LTBP1	HP:0003180	Flat acetabular roof	-	OMIM:615777
4052	LTBP1	HP:0004482	Relative macrocephaly	-	OMIM:615777
4052	LTBP1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4052	LTBP1	HP:0000823	Delayed puberty	-	OMIM:131300
4052	LTBP1	HP:0000894	Short clavicles	-	OMIM:615777
4052	LTBP1	HP:0030872	Abnormal cardiac ventricular function	HP:0040283	ORPHA:90349
4052	LTBP1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4052	LTBP1	HP:0045027	Abnormality of the thoracic cavity	HP:0040282	ORPHA:90349
4052	LTBP1	HP:0010306	Short thorax	1/8	OMIM:619451
4052	LTBP1	HP:0000973	Cutis laxa	8/8	OMIM:619451
4052	LTBP1	HP:0000973	Cutis laxa	HP:0040280	ORPHA:90349
4052	LTBP1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4052	LTBP1	HP:0000286	Epicanthus	1/7	OMIM:615777
4052	LTBP1	HP:0000280	Coarse facial features	7/8	OMIM:619451
4052	LTBP1	HP:0000280	Coarse facial features	2/7	OMIM:615777
4052	LTBP1	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:90349
4052	LTBP1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:90349
4052	LTBP1	HP:0002827	Hip dislocation	1/8	OMIM:619451
4052	LTBP1	HP:0002827	Hip dislocation	3/7	OMIM:615777
4052	LTBP1	HP:0000252	Microcephaly	-	OMIM:615777
4052	LTBP1	HP:0001582	Redundant skin	HP:0040281	ORPHA:90349
4052	LTBP1	HP:0000218	High palate	5/8	OMIM:619451
4052	LTBP1	HP:0002857	Genu valgum	-	OMIM:131300
4052	LTBP1	HP:0001533	Slender build	-	OMIM:131300
4052	LTBP1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:90349
4052	LTBP1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4052	LTBP1	HP:0007807	Optic nerve compression	-	OMIM:131300
4052	LTBP1	HP:0012368	Flat face	7/7	OMIM:615777
4052	LTBP1	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:90349
4052	LTBP1	HP:0002938	Lumbar hyperlordosis	1/8	OMIM:619451
4052	LTBP1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4052	LTBP1	HP:0000365	Hearing impairment	3/8	OMIM:619451
4052	LTBP1	HP:0000365	Hearing impairment	10/67	OMIM:131300
4052	LTBP1	HP:0011004	Abnormal systemic arterial morphology	HP:0040282	ORPHA:90349
4052	LTBP1	HP:0000343	Long philtrum	7/8	OMIM:619451
4052	LTBP1	HP:0000343	Long philtrum	1/7	OMIM:615777
4052	LTBP1	HP:0012330	Pyelonephritis	HP:0040283	ORPHA:90349
4052	LTBP1	HP:0011001	Increased bone mineral density	-	OMIM:131300
4052	LTBP1	HP:0000311	Round face	2/7	OMIM:615777
4052	LTBP1	HP:0002970	Genu varum	3/8	OMIM:619451
4052	LTBP1	HP:0002970	Genu varum	-	OMIM:615777
4052	LTBP1	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:90349
4052	LTBP1	HP:0000303	Mandibular prognathia	-	OMIM:131300
4052	LTBP1	HP:0006698	Dilatation of the ventricular cavity	HP:0040283	ORPHA:90349
4052	LTBP1	HP:0005272	Prominent nasolabial fold	6/8	OMIM:619451
4052	LTBP1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4052	LTBP1	HP:0000494	Downslanted palpebral fissures	5/8	OMIM:619451
4052	LTBP1	HP:0000455	Broad nasal tip	8/8	OMIM:619451
4052	LTBP1	HP:0000470	Short neck	1/7	OMIM:615777
4052	LTBP1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4052	LTBP1	HP:0001763	Pes planus	1/7	OMIM:615777
4052	LTBP1	HP:0000444	Convex nasal ridge	7/8	OMIM:619451
4052	LTBP1	HP:0000431	Wide nasal bridge	8/8	OMIM:619451
4052	LTBP1	HP:0001840	Metatarsus adductus	-	OMIM:615777
4052	LTBP1	HP:0000527	Long eyelashes	7/8	OMIM:619451
4052	LTBP1	HP:0000520	Proptosis	2/4	OMIM:131300
4052	LTBP1	HP:0000520	Proptosis	6/8	OMIM:619451
4052	LTBP1	HP:0000520	Proptosis	7/7	OMIM:615777
4052	LTBP1	HP:0000592	Blue sclerae	2/7	OMIM:615777
4052	LTBP1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4052	LTBP1	HP:0012514	Lower limb pain	4/4	OMIM:131300
4053	LTBP2	HP:0001156	Brachydactyly	5/12	OMIM:614819
4053	LTBP2	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3449
4053	LTBP2	HP:0009926	Epiphora	HP:0040282	ORPHA:98976
4053	LTBP2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4053	LTBP2	HP:0001293	Cranial nerve compression	-	OMIM:131300
4053	LTBP2	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:3449
4053	LTBP2	HP:0001252	Hypotonia	2/7	OMIM:615777
4053	LTBP2	HP:0001249	Intellectual disability	5/7	OMIM:615777
4053	LTBP2	HP:0001263	Global developmental delay	-	OMIM:615777
4053	LTBP2	HP:0002515	Waddling gait	54/102	OMIM:131300
4053	LTBP2	HP:0012040	Corneal stromal edema	HP:0040281	ORPHA:98976
4053	LTBP2	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:3449
4053	LTBP2	HP:0001387	Joint stiffness	HP:0040283	ORPHA:3449
4053	LTBP2	HP:0001387	Joint stiffness	5/12	OMIM:614819
4053	LTBP2	HP:0001382	Joint hypermobility	-	OMIM:615777
4053	LTBP2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4053	LTBP2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4053	LTBP2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4053	LTBP2	HP:0001324	Muscle weakness	40/96	OMIM:131300
4053	LTBP2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4053	LTBP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614819
4053	LTBP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:600975
4053	LTBP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:251750
4053	LTBP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4053	LTBP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613086
4053	LTBP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4053	LTBP2	HP:0002650	Scoliosis	12/14	OMIM:131300
4053	LTBP2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4053	LTBP2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4053	LTBP2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4053	LTBP2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4053	LTBP2	HP:0000164	Abnormality of the dentition	0/5	OMIM:251750
4053	LTBP2	HP:0000175	Cleft palate	2/7	OMIM:615777
4053	LTBP2	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:98976
4053	LTBP2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:3449
4053	LTBP2	HP:0030961	Microspherophakia	HP:0040281	ORPHA:3449
4053	LTBP2	HP:0030961	Microspherophakia	3/12	OMIM:614819
4053	LTBP2	HP:0030961	Microspherophakia	5/5	OMIM:251750
4053	LTBP2	HP:0003388	Easy fatigability	36/76	OMIM:131300
4053	LTBP2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4053	LTBP2	HP:0003510	Severe short stature	7/7	OMIM:615777
4053	LTBP2	HP:0002315	Headache	-	OMIM:131300
4053	LTBP2	HP:0004976	Knee dislocation	6/7	OMIM:615777
4053	LTBP2	HP:0001072	Thickened skin	HP:0040282	ORPHA:3449
4053	LTBP2	HP:0009803	Short phalanx of finger	-	OMIM:615777
4053	LTBP2	HP:0001089	Iris atrophy	HP:0040282	ORPHA:98976
4053	LTBP2	HP:0001083	Ectopia lentis	HP:0040282	ORPHA:3449
4053	LTBP2	HP:0001083	Ectopia lentis	1/8	OMIM:613086
4053	LTBP2	HP:0001083	Ectopia lentis	3/12	OMIM:614819
4053	LTBP2	HP:0001083	Ectopia lentis	3/5	OMIM:251750
4053	LTBP2	HP:0100693	Iridodonesis	HP:0040283	ORPHA:98976
4053	LTBP2	HP:0100693	Iridodonesis	HP:0040283	OMIM:251750
4053	LTBP2	HP:0009778	Short thumb	HP:0040281	ORPHA:3449
4053	LTBP2	HP:0009763	Limb pain	63/92	OMIM:131300
4053	LTBP2	HP:0003621	Juvenile onset	5/5	OMIM:251750
4053	LTBP2	HP:0003621	Juvenile onset	-	OMIM:131300
4053	LTBP2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4053	LTBP2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4053	LTBP2	HP:6001056	Out-toeing	-	OMIM:131300
4053	LTBP2	HP:0000651	Diplopia	-	OMIM:131300
4053	LTBP2	HP:0000646	Amblyopia	HP:0040283	ORPHA:98976
4053	LTBP2	HP:0000643	Blepharospasm	HP:0040282	ORPHA:98976
4053	LTBP2	HP:0000613	Photophobia	-	OMIM:613086
4053	LTBP2	HP:0000613	Photophobia	HP:0040282	ORPHA:98976
4053	LTBP2	HP:0001956	Truncal obesity	2/7	OMIM:615777
4053	LTBP2	HP:0001903	Anemia	HP:0040283	OMIM:131300
4053	LTBP2	HP:0010049	Short metacarpal	-	OMIM:615777
4053	LTBP2	HP:0000678	Dental crowding	-	OMIM:615777
4053	LTBP2	HP:0000670	Carious teeth	-	OMIM:131300
4053	LTBP2	HP:0011304	Broad thumb	2/7	OMIM:615777
4053	LTBP2	HP:0000668	Hypodontia	-	OMIM:615777
4053	LTBP2	HP:0000664	Synophrys	-	OMIM:615777
4053	LTBP2	HP:0004322	Short stature	10/12	OMIM:614819
4053	LTBP2	HP:0004322	Short stature	HP:0040281	ORPHA:3449
4053	LTBP2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:3449
4053	LTBP2	HP:0004396	Poor appetite	-	OMIM:131300
4053	LTBP2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4053	LTBP2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4053	LTBP2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4053	LTBP2	HP:0003026	Short long bone	7/7	OMIM:615777
4053	LTBP2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4053	LTBP2	HP:0000767	Pectus excavatum	HP:0040283	OMIM:251750
4053	LTBP2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4053	LTBP2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4053	LTBP2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4053	LTBP2	HP:0000750	Delayed speech and language development	-	OMIM:615777
4053	LTBP2	HP:0011490	Abnormal Descemet membrane morphology	HP:0040282	ORPHA:98976
4053	LTBP2	HP:0011461	Fetal onset	7/7	OMIM:615777
4053	LTBP2	HP:0000774	Narrow chest	2/7	OMIM:615777
4053	LTBP2	HP:0000926	Platyspondyly	1/7	OMIM:615777
4053	LTBP2	HP:0003180	Flat acetabular roof	-	OMIM:615777
4053	LTBP2	HP:0004482	Relative macrocephaly	-	OMIM:615777
4053	LTBP2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4053	LTBP2	HP:0012803	Anisometropia	HP:0040283	ORPHA:98976
4053	LTBP2	HP:0000823	Delayed puberty	-	OMIM:131300
4053	LTBP2	HP:0000894	Short clavicles	-	OMIM:615777
4053	LTBP2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4053	LTBP2	HP:0008007	Primary congenital glaucoma	-	OMIM:600975
4053	LTBP2	HP:0008007	Primary congenital glaucoma	-	OMIM:613086
4053	LTBP2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4053	LTBP2	HP:0000951	Abnormality of the skin	0/5	OMIM:251750
4053	LTBP2	HP:0000286	Epicanthus	1/7	OMIM:615777
4053	LTBP2	HP:0000280	Coarse facial features	2/7	OMIM:615777
4053	LTBP2	HP:0007765	Deep anterior chamber	HP:0040282	ORPHA:98976
4053	LTBP2	HP:0007765	Deep anterior chamber	HP:0040283	OMIM:251750
4053	LTBP2	HP:0002827	Hip dislocation	3/7	OMIM:615777
4053	LTBP2	HP:0000252	Microcephaly	-	OMIM:615777
4053	LTBP2	HP:0000218	High palate	HP:0040283	OMIM:251750
4053	LTBP2	HP:0002857	Genu valgum	-	OMIM:131300
4053	LTBP2	HP:0001533	Slender build	-	OMIM:131300
4053	LTBP2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4053	LTBP2	HP:0007807	Optic nerve compression	-	OMIM:131300
4053	LTBP2	HP:0012368	Flat face	7/7	OMIM:615777
4053	LTBP2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4053	LTBP2	HP:0005184	Prolonged QTc interval	HP:0040283	ORPHA:3449
4053	LTBP2	HP:0000365	Hearing impairment	10/67	OMIM:131300
4053	LTBP2	HP:0011003	High myopia	HP:0040281	ORPHA:3449
4053	LTBP2	HP:0011003	High myopia	3/12	OMIM:614819
4053	LTBP2	HP:0000343	Long philtrum	1/7	OMIM:615777
4053	LTBP2	HP:0011001	Increased bone mineral density	-	OMIM:131300
4053	LTBP2	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:3449
4053	LTBP2	HP:0001650	Aortic valve stenosis	4/12	OMIM:614819
4053	LTBP2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:3449
4053	LTBP2	HP:0000311	Round face	2/7	OMIM:615777
4053	LTBP2	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:3449
4053	LTBP2	HP:0001642	Pulmonic stenosis	5/12	OMIM:614819
4053	LTBP2	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:3449
4053	LTBP2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:3449
4053	LTBP2	HP:0002970	Genu varum	-	OMIM:615777
4053	LTBP2	HP:0000303	Mandibular prognathia	-	OMIM:131300
4053	LTBP2	HP:0007957	Corneal opacity	-	OMIM:613086
4053	LTBP2	HP:0007957	Corneal opacity	HP:0040282	ORPHA:98976
4053	LTBP2	HP:0007906	Ocular hypertension	HP:0040282	ORPHA:98976
4053	LTBP2	HP:0007906	Ocular hypertension	2/12	OMIM:614819
4053	LTBP2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4053	LTBP2	HP:0000485	Megalocornea	HP:0040282	ORPHA:98976
4053	LTBP2	HP:0000485	Megalocornea	0/5	OMIM:251750
4053	LTBP2	HP:0025751	Reduced anterior scleral thickness	HP:0040282	ORPHA:98976
4053	LTBP2	HP:0000470	Short neck	1/7	OMIM:615777
4053	LTBP2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4053	LTBP2	HP:0001763	Pes planus	1/7	OMIM:615777
4053	LTBP2	HP:0000518	Cataract	HP:0040283	ORPHA:3449
4053	LTBP2	HP:0001840	Metatarsus adductus	-	OMIM:615777
4053	LTBP2	HP:0000520	Proptosis	2/4	OMIM:131300
4053	LTBP2	HP:0000520	Proptosis	7/7	OMIM:615777
4053	LTBP2	HP:0000501	Glaucoma	2/5	OMIM:251750
4053	LTBP2	HP:0000501	Glaucoma	HP:0040281	ORPHA:3449
4053	LTBP2	HP:0000501	Glaucoma	HP:0040281	ORPHA:98976
4053	LTBP2	HP:0000594	Shallow anterior chamber	3/12	OMIM:614819
4053	LTBP2	HP:0000592	Blue sclerae	2/7	OMIM:615777
4053	LTBP2	HP:0000557	Buphthalmos	HP:0040282	ORPHA:98976
4053	LTBP2	HP:0000557	Buphthalmos	0/5	OMIM:251750
4053	LTBP2	HP:0000572	Visual loss	HP:0040283	ORPHA:3449
4053	LTBP2	HP:0000572	Visual loss	HP:0040283	ORPHA:98976
4053	LTBP2	HP:0000540	Hypermetropia	HP:0040283	OMIM:251750
4053	LTBP2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4053	LTBP2	HP:0012514	Lower limb pain	4/4	OMIM:131300
4053	LTBP2	HP:0000545	Myopia	-	OMIM:251750
4053	LTBP2	HP:0000545	Myopia	HP:0040283	ORPHA:98976
4054	LTBP3	HP:0009901	Crumpled ear	90/119	OMIM:121050
4054	LTBP3	HP:0001181	Adducted thumb	42/90	OMIM:121050
4054	LTBP3	HP:0001156	Brachydactyly	HP:0040281	ORPHA:969
4054	LTBP3	HP:0001156	Brachydactyly	3/3	OMIM:617809
4054	LTBP3	HP:0001156	Brachydactyly	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0001166	Arachnodactyly	104/124	OMIM:121050
4054	LTBP3	HP:0001166	Arachnodactyly	124/197	OMIM:154700
4054	LTBP3	HP:0001166	Arachnodactyly	34/37	OMIM:182212
4054	LTBP3	HP:0001166	Arachnodactyly	6/15	OMIM:208050
4054	LTBP3	HP:0003745	Sporadic	-	OMIM:182212
4054	LTBP3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
4054	LTBP3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4054	LTBP3	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
4054	LTBP3	HP:0001293	Cranial nerve compression	-	OMIM:131300
4054	LTBP3	HP:0001290	Generalized hypotonia	-	OMIM:208050
4054	LTBP3	HP:0001290	Generalized hypotonia	-	OMIM:182212
4054	LTBP3	HP:0001270	Motor delay	-	OMIM:121050
4054	LTBP3	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
4054	LTBP3	HP:0001252	Hypotonia	2/7	OMIM:615777
4054	LTBP3	HP:0001252	Hypotonia	26/37	OMIM:182212
4054	LTBP3	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
4054	LTBP3	HP:0001249	Intellectual disability	5/7	OMIM:615777
4054	LTBP3	HP:0001249	Intellectual disability	-	OMIM:182212
4054	LTBP3	HP:0001263	Global developmental delay	-	OMIM:615777
4054	LTBP3	HP:0001263	Global developmental delay	-	OMIM:182212
4054	LTBP3	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
4054	LTBP3	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
4054	LTBP3	HP:0002515	Waddling gait	54/102	OMIM:131300
4054	LTBP3	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
4054	LTBP3	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
4054	LTBP3	HP:0000098	Tall stature	-	OMIM:154700
4054	LTBP3	HP:0001377	Limited elbow extension	94/109	OMIM:121050
4054	LTBP3	HP:0001377	Limited elbow extension	29/199	OMIM:154700
4054	LTBP3	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0001371	Flexion contracture	-	OMIM:208050
4054	LTBP3	HP:0001371	Flexion contracture	-	OMIM:154700
4054	LTBP3	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0001387	Joint stiffness	HP:0040283	ORPHA:969
4054	LTBP3	HP:0001382	Joint hypermobility	1/1	OMIM:130050
4054	LTBP3	HP:0001382	Joint hypermobility	12/14	OMIM:208050
4054	LTBP3	HP:0001382	Joint hypermobility	11/53	OMIM:154700
4054	LTBP3	HP:0001382	Joint hypermobility	-	OMIM:615777
4054	LTBP3	HP:0001382	Joint hypermobility	31/47	OMIM:182212
4054	LTBP3	HP:0000023	Inguinal hernia	11/11	OMIM:130050
4054	LTBP3	HP:0000023	Inguinal hernia	8/15	OMIM:208050
4054	LTBP3	HP:0000023	Inguinal hernia	19/34	OMIM:182212
4054	LTBP3	HP:0001363	Craniosynostosis	18/37	OMIM:182212
4054	LTBP3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4054	LTBP3	HP:0000028	Cryptorchidism	1/1	OMIM:130050
4054	LTBP3	HP:0000028	Cryptorchidism	1/13	OMIM:182212
4054	LTBP3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4054	LTBP3	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
4054	LTBP3	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
4054	LTBP3	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
4054	LTBP3	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
4054	LTBP3	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
4054	LTBP3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4054	LTBP3	HP:0002656	Epiphyseal dysplasia	-	OMIM:617809
4054	LTBP3	HP:0001324	Muscle weakness	40/96	OMIM:131300
4054	LTBP3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4054	LTBP3	HP:0000007	Autosomal recessive inheritance	-	OMIM:601216
4054	LTBP3	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
4054	LTBP3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4054	LTBP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:617809
4054	LTBP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
4054	LTBP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
4054	LTBP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
4054	LTBP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4054	LTBP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
4054	LTBP3	HP:0002650	Scoliosis	-	OMIM:601216
4054	LTBP3	HP:0002650	Scoliosis	16/53	OMIM:154700
4054	LTBP3	HP:0002650	Scoliosis	11/15	OMIM:121050
4054	LTBP3	HP:0002650	Scoliosis	12/14	OMIM:131300
4054	LTBP3	HP:0002650	Scoliosis	3/15	OMIM:208050
4054	LTBP3	HP:0002650	Scoliosis	23/37	OMIM:182212
4054	LTBP3	HP:0002647	Aortic dissection	1/58	OMIM:154700
4054	LTBP3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4054	LTBP3	HP:0002619	Varicose veins	-	OMIM:130050
4054	LTBP3	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
4054	LTBP3	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
4054	LTBP3	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
4054	LTBP3	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
4054	LTBP3	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
4054	LTBP3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4054	LTBP3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4054	LTBP3	HP:0012185	Constrictive median neuropathy	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0000189	Narrow palate	-	OMIM:182212
4054	LTBP3	HP:0000189	Narrow palate	-	OMIM:154700
4054	LTBP3	HP:0000179	Thick lower lip vermilion	HP:0040282	ORPHA:969
4054	LTBP3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4054	LTBP3	HP:0000193	Bifid uvula	0/14	OMIM:208050
4054	LTBP3	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
4054	LTBP3	HP:0000160	Narrow mouth	HP:0040282	ORPHA:969
4054	LTBP3	HP:0012151	Hemothorax	3/4	OMIM:130050
4054	LTBP3	HP:0000175	Cleft palate	2/7	OMIM:615777
4054	LTBP3	HP:0000139	Uterine prolapse	-	OMIM:130050
4054	LTBP3	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
4054	LTBP3	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
4054	LTBP3	HP:0410018	Recurrent ear infections	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0006248	Limited wrist movement	2/3	OMIM:617809
4054	LTBP3	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
4054	LTBP3	HP:0002779	Tracheomalacia	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0002777	Tracheal stenosis	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0002777	Tracheal stenosis	-	OMIM:617809
4054	LTBP3	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
4054	LTBP3	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
4054	LTBP3	HP:0002750	Delayed skeletal maturation	-	OMIM:601216
4054	LTBP3	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:969
4054	LTBP3	HP:0002750	Delayed skeletal maturation	-	OMIM:617809
4054	LTBP3	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
4054	LTBP3	HP:0002036	Hiatus hernia	-	OMIM:208050
4054	LTBP3	HP:0002007	Frontal bossing	-	OMIM:121050
4054	LTBP3	HP:0002007	Frontal bossing	-	OMIM:182212
4054	LTBP3	HP:0003302	Spondylolisthesis	-	OMIM:154700
4054	LTBP3	HP:0003300	Ovoid vertebral bodies	HP:0040283	ORPHA:969
4054	LTBP3	HP:0002099	Asthma	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0002097	Emphysema	8/9	OMIM:130050
4054	LTBP3	HP:0002097	Emphysema	HP:0040283	OMIM:154700
4054	LTBP3	HP:0002094	Dyspnea	-	OMIM:617809
4054	LTBP3	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0002090	Pneumonia	-	OMIM:617809
4054	LTBP3	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0030961	Microspherophakia	2/53	OMIM:154700
4054	LTBP3	HP:0003388	Easy fatigability	36/76	OMIM:131300
4054	LTBP3	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
4054	LTBP3	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
4054	LTBP3	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
4054	LTBP3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4054	LTBP3	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:969
4054	LTBP3	HP:0040261	Increased size of nasopharyngeal adenoids	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0005900	Fifth metacarpal with ulnar notch	HP:0040283	ORPHA:969
4054	LTBP3	HP:0010499	Patellar subluxation	12/22	OMIM:121050
4054	LTBP3	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
4054	LTBP3	HP:0002140	Ischemic stroke	-	OMIM:208050
4054	LTBP3	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
4054	LTBP3	HP:0002107	Pneumothorax	2/2	OMIM:130050
4054	LTBP3	HP:0002107	Pneumothorax	6/53	OMIM:154700
4054	LTBP3	HP:0002105	Hemoptysis	6/10	OMIM:130050
4054	LTBP3	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
4054	LTBP3	HP:0010535	Sleep apnea	-	OMIM:617809
4054	LTBP3	HP:0003593	Infantile onset	5/16	OMIM:208050
4054	LTBP3	HP:0003577	Congenital onset	5/5	OMIM:121050
4054	LTBP3	HP:0003577	Congenital onset	12/26	OMIM:208050
4054	LTBP3	HP:0002240	Hepatomegaly	0/3	OMIM:617809
4054	LTBP3	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0100718	Uterine rupture	-	OMIM:130050
4054	LTBP3	HP:0004890	Elevated pulmonary artery pressure	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0004872	Incisional hernia	-	OMIM:154700
4054	LTBP3	HP:0100775	Dural ectasia	112/140	OMIM:154700
4054	LTBP3	HP:0100749	Chest pain	1/2	OMIM:130050
4054	LTBP3	HP:0002293	Alopecia of scalp	-	OMIM:130050
4054	LTBP3	HP:0034671	Knee contracture	7/14	OMIM:121050
4054	LTBP3	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
4054	LTBP3	HP:0010648	Dermal translucency	3/3	OMIM:130050
4054	LTBP3	HP:0003510	Severe short stature	7/7	OMIM:615777
4054	LTBP3	HP:0003510	Severe short stature	HP:0040281	ORPHA:969
4054	LTBP3	HP:0007099	Chiari type I malformation	-	OMIM:182212
4054	LTBP3	HP:0025019	Arterial rupture	-	OMIM:130050
4054	LTBP3	HP:0001065	Striae distensae	11/53	OMIM:154700
4054	LTBP3	HP:0001030	Fragile skin	-	OMIM:130050
4054	LTBP3	HP:0001027	Soft, doughy skin	-	OMIM:208050
4054	LTBP3	HP:0002315	Headache	-	OMIM:131300
4054	LTBP3	HP:0004976	Knee dislocation	6/7	OMIM:615777
4054	LTBP3	HP:0100645	Cystocele	-	OMIM:130050
4054	LTBP3	HP:0009826	Limb undergrowth	-	OMIM:617809
4054	LTBP3	HP:0001073	Cigarette-paper scars	-	OMIM:130050
4054	LTBP3	HP:0001072	Thickened skin	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0001072	Thickened skin	-	OMIM:617809
4054	LTBP3	HP:0009803	Short phalanx of finger	-	OMIM:615777
4054	LTBP3	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
4054	LTBP3	HP:0001083	Ectopia lentis	119/251	OMIM:154700
4054	LTBP3	HP:0200055	Small hand	HP:0040281	ORPHA:969
4054	LTBP3	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:601216
4054	LTBP3	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
4054	LTBP3	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
4054	LTBP3	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
4054	LTBP3	HP:0008441	Herniation of intervertebral nuclei	-	OMIM:601216
4054	LTBP3	HP:0009763	Limb pain	63/92	OMIM:131300
4054	LTBP3	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
4054	LTBP3	HP:0003623	Neonatal onset	3/16	OMIM:208050
4054	LTBP3	HP:0003623	Neonatal onset	1/3	OMIM:617809
4054	LTBP3	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
4054	LTBP3	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
4054	LTBP3	HP:0003621	Juvenile onset	-	OMIM:131300
4054	LTBP3	HP:0003621	Juvenile onset	2/16	OMIM:208050
4054	LTBP3	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
4054	LTBP3	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
4054	LTBP3	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
4054	LTBP3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4054	LTBP3	HP:0004279	Short palm	HP:0040281	ORPHA:969
4054	LTBP3	HP:0004279	Short palm	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4054	LTBP3	HP:6001056	Out-toeing	-	OMIM:131300
4054	LTBP3	HP:0000651	Diplopia	-	OMIM:131300
4054	LTBP3	HP:0001977	Abnormal thrombosis	-	OMIM:208050
4054	LTBP3	HP:0001956	Truncal obesity	2/7	OMIM:615777
4054	LTBP3	HP:0001903	Anemia	1/1	OMIM:130050
4054	LTBP3	HP:0001903	Anemia	HP:0040283	OMIM:131300
4054	LTBP3	HP:0010049	Short metacarpal	-	OMIM:615777
4054	LTBP3	HP:0010049	Short metacarpal	HP:0040283	ORPHA:969
4054	LTBP3	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
4054	LTBP3	HP:0000678	Dental crowding	8/53	OMIM:154700
4054	LTBP3	HP:0000678	Dental crowding	-	OMIM:615777
4054	LTBP3	HP:0000677	Oligodontia	4/4	OMIM:601216
4054	LTBP3	HP:0000691	Microdontia	-	OMIM:601216
4054	LTBP3	HP:0000689	Dental malocclusion	-	OMIM:182212
4054	LTBP3	HP:0000687	Widely spaced teeth	-	OMIM:601216
4054	LTBP3	HP:0000670	Carious teeth	-	OMIM:131300
4054	LTBP3	HP:0011304	Broad thumb	2/7	OMIM:615777
4054	LTBP3	HP:0000668	Hypodontia	-	OMIM:615777
4054	LTBP3	HP:0000664	Synophrys	-	OMIM:615777
4054	LTBP3	HP:0004322	Short stature	-	OMIM:130050
4054	LTBP3	HP:0004322	Short stature	3/3	OMIM:617809
4054	LTBP3	HP:0004322	Short stature	4/4	OMIM:601216
4054	LTBP3	HP:0004322	Short stature	HP:0040281	ORPHA:2623
4054	LTBP3	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
4054	LTBP3	HP:0003088	Premature osteoarthritis	-	OMIM:154700
4054	LTBP3	HP:0003083	Dislocated radial head	5/37	OMIM:182212
4054	LTBP3	HP:0003066	Limited knee extension	38/45	OMIM:121050
4054	LTBP3	HP:0004396	Poor appetite	-	OMIM:131300
4054	LTBP3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4054	LTBP3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4054	LTBP3	HP:0003042	Elbow dislocation	1/12	OMIM:121050
4054	LTBP3	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
4054	LTBP3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4054	LTBP3	HP:0003026	Short long bone	7/7	OMIM:615777
4054	LTBP3	HP:0003026	Short long bone	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4054	LTBP3	HP:0005684	Distal arthrogryposis	-	OMIM:121050
4054	LTBP3	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
4054	LTBP3	HP:0000767	Pectus excavatum	2/14	OMIM:121050
4054	LTBP3	HP:0000767	Pectus excavatum	1/4	OMIM:130050
4054	LTBP3	HP:0000767	Pectus excavatum	3/15	OMIM:208050
4054	LTBP3	HP:0000767	Pectus excavatum	44/146	OMIM:154700
4054	LTBP3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4054	LTBP3	HP:0000767	Pectus excavatum	-	OMIM:182212
4054	LTBP3	HP:0000768	Pectus carinatum	4/14	OMIM:121050
4054	LTBP3	HP:0000768	Pectus carinatum	2/15	OMIM:208050
4054	LTBP3	HP:0000768	Pectus carinatum	58/146	OMIM:154700
4054	LTBP3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4054	LTBP3	HP:0000768	Pectus carinatum	-	OMIM:182212
4054	LTBP3	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:969
4054	LTBP3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4054	LTBP3	HP:0000750	Delayed speech and language development	-	OMIM:615777
4054	LTBP3	HP:0000705	Amelogenesis imperfecta	-	OMIM:601216
4054	LTBP3	HP:0000704	Periodontitis	-	OMIM:130050
4054	LTBP3	HP:0011463	Childhood onset	2/3	OMIM:617809
4054	LTBP3	HP:0011463	Childhood onset	1/16	OMIM:208050
4054	LTBP3	HP:0011462	Young adult onset	3/16	OMIM:208050
4054	LTBP3	HP:0011461	Fetal onset	7/7	OMIM:615777
4054	LTBP3	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
4054	LTBP3	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
4054	LTBP3	HP:0000774	Narrow chest	2/7	OMIM:615777
4054	LTBP3	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
4054	LTBP3	HP:0011428	Short fetal femur length	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
4054	LTBP3	HP:0030799	Scaphocephaly	-	OMIM:121050
4054	LTBP3	HP:0003199	Decreased muscle mass	-	OMIM:154700
4054	LTBP3	HP:0003196	Short nose	HP:0040281	ORPHA:969
4054	LTBP3	HP:0003196	Short nose	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0000926	Platyspondyly	-	OMIM:601216
4054	LTBP3	HP:0000926	Platyspondyly	1/7	OMIM:615777
4054	LTBP3	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
4054	LTBP3	HP:0034281	Phalangeal cone-shaped epiphyses	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0003180	Flat acetabular roof	-	OMIM:615777
4054	LTBP3	HP:0004482	Relative macrocephaly	-	OMIM:615777
4054	LTBP3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4054	LTBP3	HP:0000883	Thin ribs	-	OMIM:182212
4054	LTBP3	HP:0000822	Hypertension	-	OMIM:208050
4054	LTBP3	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:2623
4054	LTBP3	HP:0000823	Delayed puberty	-	OMIM:131300
4054	LTBP3	HP:0000895	Lateral clavicle hook	-	OMIM:182212
4054	LTBP3	HP:0000894	Short clavicles	-	OMIM:615777
4054	LTBP3	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
4054	LTBP3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4054	LTBP3	HP:0034392	Joint contracture	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0034391	Elbow contracture	10/14	OMIM:121050
4054	LTBP3	HP:0003273	Hip contracture	32/121	OMIM:121050
4054	LTBP3	HP:0000998	Hypertrichosis	-	OMIM:601216
4054	LTBP3	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
4054	LTBP3	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
4054	LTBP3	HP:0000978	Bruising susceptibility	-	OMIM:208050
4054	LTBP3	HP:0000977	Soft skin	7/15	OMIM:208050
4054	LTBP3	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
4054	LTBP3	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
4054	LTBP3	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
4054	LTBP3	HP:0000973	Cutis laxa	5/14	OMIM:208050
4054	LTBP3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4054	LTBP3	HP:0034350	Valvular pulmonary stenosis	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0000963	Thin skin	4/13	OMIM:208050
4054	LTBP3	HP:0000938	Osteopenia	-	OMIM:121050
4054	LTBP3	HP:0000938	Osteopenia	-	OMIM:182212
4054	LTBP3	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
4054	LTBP3	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
4054	LTBP3	HP:0000286	Epicanthus	1/7	OMIM:615777
4054	LTBP3	HP:0025586	Hypertropia	8/573	OMIM:154700
4054	LTBP3	HP:0000280	Coarse facial features	2/7	OMIM:615777
4054	LTBP3	HP:0000278	Retrognathia	-	OMIM:154700
4054	LTBP3	HP:0000293	Full cheeks	1/3	OMIM:617809
4054	LTBP3	HP:0000260	Wide anterior fontanel	-	OMIM:182212
4054	LTBP3	HP:0000275	Narrow face	-	OMIM:154700
4054	LTBP3	HP:0000276	Long face	14/14	OMIM:208050
4054	LTBP3	HP:0000276	Long face	-	OMIM:154700
4054	LTBP3	HP:0000272	Malar flattening	9/14	OMIM:208050
4054	LTBP3	HP:0000272	Malar flattening	31/53	OMIM:154700
4054	LTBP3	HP:0000268	Dolichocephaly	-	OMIM:121050
4054	LTBP3	HP:0000268	Dolichocephaly	36/53	OMIM:154700
4054	LTBP3	HP:0000268	Dolichocephaly	28/37	OMIM:182212
4054	LTBP3	HP:0005136	Mitral annular calcification	-	OMIM:154700
4054	LTBP3	HP:0002816	Genu recurvatum	-	OMIM:182212
4054	LTBP3	HP:0002816	Genu recurvatum	-	OMIM:154700
4054	LTBP3	HP:0002827	Hip dislocation	3/7	OMIM:615777
4054	LTBP3	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:969
4054	LTBP3	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
4054	LTBP3	HP:0000244	Brachyturricephaly	-	OMIM:182212
4054	LTBP3	HP:0000238	Hydrocephalus	13/37	OMIM:182212
4054	LTBP3	HP:0000252	Microcephaly	-	OMIM:615777
4054	LTBP3	HP:0000252	Microcephaly	6/37	OMIM:182212
4054	LTBP3	HP:0000248	Brachycephaly	-	OMIM:121050
4054	LTBP3	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0002878	Respiratory failure	-	OMIM:617809
4054	LTBP3	HP:0000218	High palate	34/53	OMIM:154700
4054	LTBP3	HP:0000218	High palate	30/102	OMIM:121050
4054	LTBP3	HP:0000218	High palate	5/13	OMIM:208050
4054	LTBP3	HP:0000218	High palate	30/37	OMIM:182212
4054	LTBP3	HP:0001561	Polyhydramnios	HP:0040284	OMIM:617809
4054	LTBP3	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0000233	Thin vermilion border	-	OMIM:130050
4054	LTBP3	HP:0030009	Cervical insufficiency	-	OMIM:130050
4054	LTBP3	HP:0002857	Genu valgum	-	OMIM:131300
4054	LTBP3	HP:0002857	Genu valgum	4/37	OMIM:182212
4054	LTBP3	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
4054	LTBP3	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0001537	Umbilical hernia	-	OMIM:208050
4054	LTBP3	HP:0001537	Umbilical hernia	13/37	OMIM:182212
4054	LTBP3	HP:0001533	Slender build	-	OMIM:131300
4054	LTBP3	HP:0031364	Ecchymosis	-	OMIM:130050
4054	LTBP3	HP:0001519	Disproportionate tall stature	-	OMIM:121050
4054	LTBP3	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
4054	LTBP3	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4054	LTBP3	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0007807	Optic nerve compression	-	OMIM:131300
4054	LTBP3	HP:0007800	Increased axial length of the globe	-	OMIM:154700
4054	LTBP3	HP:0012385	Camptodactyly	86/110	OMIM:121050
4054	LTBP3	HP:0012385	Camptodactyly	19/53	OMIM:154700
4054	LTBP3	HP:0012385	Camptodactyly	24/37	OMIM:182212
4054	LTBP3	HP:0000387	Absent earlobe	-	OMIM:130050
4054	LTBP3	HP:0012368	Flat face	7/7	OMIM:615777
4054	LTBP3	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
4054	LTBP3	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
4054	LTBP3	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
4054	LTBP3	HP:0006536	Airway obstruction	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
4054	LTBP3	HP:0001607	Subglottic stenosis	2/3	OMIM:617809
4054	LTBP3	HP:0001609	Hoarse voice	HP:0040283	ORPHA:969
4054	LTBP3	HP:0001609	Hoarse voice	3/3	OMIM:617809
4054	LTBP3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4054	LTBP3	HP:0001602	Laryngeal stenosis	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0002945	Intervertebral space narrowing	-	OMIM:601216
4054	LTBP3	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
4054	LTBP3	HP:0006480	Premature loss of teeth	-	OMIM:130050
4054	LTBP3	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
4054	LTBP3	HP:0000365	Hearing impairment	10/67	OMIM:131300
4054	LTBP3	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
4054	LTBP3	HP:0000369	Low-set ears	32/37	OMIM:182212
4054	LTBP3	HP:0000343	Long philtrum	HP:0040281	ORPHA:969
4054	LTBP3	HP:0000343	Long philtrum	-	OMIM:208050
4054	LTBP3	HP:0000343	Long philtrum	HP:0040284	OMIM:617809
4054	LTBP3	HP:0000343	Long philtrum	1/7	OMIM:615777
4054	LTBP3	HP:0000343	Long philtrum	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0011001	Increased bone mineral density	-	OMIM:131300
4054	LTBP3	HP:0002999	Patellar dislocation	2/20	OMIM:121050
4054	LTBP3	HP:0002996	Limited elbow movement	2/3	OMIM:617809
4054	LTBP3	HP:0000347	Micrognathia	-	OMIM:154700
4054	LTBP3	HP:0000347	Micrognathia	26/94	OMIM:121050
4054	LTBP3	HP:0000347	Micrognathia	5/14	OMIM:208050
4054	LTBP3	HP:0000347	Micrognathia	33/37	OMIM:182212
4054	LTBP3	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
4054	LTBP3	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
4054	LTBP3	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
4054	LTBP3	HP:0000316	Hypertelorism	6/16	OMIM:208050
4054	LTBP3	HP:0000316	Hypertelorism	28/37	OMIM:182212
4054	LTBP3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
4054	LTBP3	HP:0000311	Round face	2/7	OMIM:615777
4054	LTBP3	HP:0000311	Round face	HP:0040281	ORPHA:969
4054	LTBP3	HP:0000311	Round face	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0000311	Round face	3/3	OMIM:617809
4054	LTBP3	HP:0000327	Hypoplasia of the maxilla	HP:0040283	OMIM:601216
4054	LTBP3	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
4054	LTBP3	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
4054	LTBP3	HP:0001659	Aortic regurgitation	-	OMIM:208050
4054	LTBP3	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
4054	LTBP3	HP:0001653	Mitral regurgitation	-	OMIM:121050
4054	LTBP3	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
4054	LTBP3	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0001653	Mitral regurgitation	1/3	OMIM:617809
4054	LTBP3	HP:0001629	Ventricular septal defect	-	OMIM:121050
4054	LTBP3	HP:0001622	Premature birth	1/3	OMIM:617809
4054	LTBP3	HP:0002970	Genu varum	-	OMIM:615777
4054	LTBP3	HP:0001635	Congestive heart failure	-	OMIM:154700
4054	LTBP3	HP:0001631	Atrial septal defect	-	OMIM:121050
4054	LTBP3	HP:0000303	Mandibular prognathia	-	OMIM:131300
4054	LTBP3	HP:0000303	Mandibular prognathia	HP:0040283	OMIM:601216
4054	LTBP3	HP:0001634	Mitral valve prolapse	-	OMIM:601216
4054	LTBP3	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
4054	LTBP3	HP:0001634	Mitral valve prolapse	-	OMIM:130050
4054	LTBP3	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
4054	LTBP3	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
4054	LTBP3	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
4054	LTBP3	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
4054	LTBP3	HP:0006695	Atrioventricular canal defect	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
4054	LTBP3	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
4054	LTBP3	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
4054	LTBP3	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0000400	Macrotia	7/15	OMIM:208050
4054	LTBP3	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
4054	LTBP3	HP:0001718	Mitral stenosis	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
4054	LTBP3	HP:0005280	Depressed nasal bridge	1/3	OMIM:617809
4054	LTBP3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4054	LTBP3	HP:0000483	Astigmatism	3/53	OMIM:154700
4054	LTBP3	HP:0000483	Astigmatism	5/15	OMIM:208050
4054	LTBP3	HP:0000483	Astigmatism	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0000486	Strabismus	110/573	OMIM:154700
4054	LTBP3	HP:0000486	Strabismus	17/37	OMIM:182212
4054	LTBP3	HP:0012471	Thick vermilion border	1/3	OMIM:617809
4054	LTBP3	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
4054	LTBP3	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
4054	LTBP3	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
4054	LTBP3	HP:0000490	Deeply set eye	25/63	OMIM:154700
4054	LTBP3	HP:0000463	Anteverted nares	HP:0040281	ORPHA:969
4054	LTBP3	HP:0000463	Anteverted nares	1/3	OMIM:617809
4054	LTBP3	HP:0000463	Anteverted nares	9/37	OMIM:182212
4054	LTBP3	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0001786	Narrow foot	33/53	OMIM:154700
4054	LTBP3	HP:0000470	Short neck	-	OMIM:121050
4054	LTBP3	HP:0000470	Short neck	1/7	OMIM:615777
4054	LTBP3	HP:0001773	Short foot	HP:0040282	ORPHA:2623
4054	LTBP3	HP:0001773	Short foot	-	OMIM:617809
4054	LTBP3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4054	LTBP3	HP:0001763	Pes planus	27/53	OMIM:154700
4054	LTBP3	HP:0001763	Pes planus	1/7	OMIM:615777
4054	LTBP3	HP:0001763	Pes planus	-	OMIM:182212
4054	LTBP3	HP:0001765	Hammertoe	-	OMIM:154700
4054	LTBP3	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
4054	LTBP3	HP:0000418	Narrow nasal ridge	-	OMIM:130050
4054	LTBP3	HP:0000414	Bulbous nose	HP:0040282	ORPHA:969
4054	LTBP3	HP:0000414	Bulbous nose	3/3	OMIM:617809
4054	LTBP3	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
4054	LTBP3	HP:0001762	Talipes equinovarus	-	OMIM:130050
4054	LTBP3	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
4054	LTBP3	HP:0000431	Wide nasal bridge	1/3	OMIM:617809
4054	LTBP3	HP:0001761	Pes cavus	49/146	OMIM:154700
4054	LTBP3	HP:0000518	Cataract	118/199	OMIM:154700
4054	LTBP3	HP:0001840	Metatarsus adductus	-	OMIM:121050
4054	LTBP3	HP:0001840	Metatarsus adductus	-	OMIM:182212
4054	LTBP3	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
4054	LTBP3	HP:0001840	Metatarsus adductus	-	OMIM:615777
4054	LTBP3	HP:0001842	Foot acroosteolysis	-	OMIM:130050
4054	LTBP3	HP:0000527	Long eyelashes	HP:0040281	ORPHA:969
4054	LTBP3	HP:0000520	Proptosis	2/4	OMIM:131300
4054	LTBP3	HP:0000520	Proptosis	7/7	OMIM:615777
4054	LTBP3	HP:0000520	Proptosis	29/37	OMIM:182212
4054	LTBP3	HP:0000506	Telecanthus	-	OMIM:182212
4054	LTBP3	HP:0000508	Ptosis	16/37	OMIM:182212
4054	LTBP3	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
4054	LTBP3	HP:0000501	Glaucoma	29/625	OMIM:154700
4054	LTBP3	HP:0000501	Glaucoma	HP:0040284	ORPHA:2623
4054	LTBP3	HP:0000581	Blepharophimosis	-	OMIM:208050
4054	LTBP3	HP:0000577	Exotropia	72/626	OMIM:154700
4054	LTBP3	HP:0000592	Blue sclerae	2/7	OMIM:615777
4054	LTBP3	HP:0000586	Shallow orbits	13/37	OMIM:182212
4054	LTBP3	HP:0000563	Keratoconus	-	OMIM:130050
4054	LTBP3	HP:0000563	Keratoconus	3/14	OMIM:208050
4054	LTBP3	HP:0011220	Prominent forehead	17/37	OMIM:182212
4054	LTBP3	HP:0000565	Esotropia	12/573	OMIM:154700
4054	LTBP3	HP:0000541	Retinal detachment	-	OMIM:154700
4054	LTBP3	HP:0000540	Hypermetropia	HP:0040283	ORPHA:2623
4054	LTBP3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4054	LTBP3	HP:0000534	Abnormal eyebrow morphology	HP:0040281	ORPHA:969
4054	LTBP3	HP:0001883	Talipes	13/53	OMIM:154700
4054	LTBP3	HP:0012514	Lower limb pain	4/4	OMIM:131300
4054	LTBP3	HP:0000545	Myopia	-	OMIM:121050
4054	LTBP3	HP:0000545	Myopia	6/15	OMIM:208050
4054	LTBP3	HP:0000545	Myopia	93/251	OMIM:154700
4054	LTBP3	HP:0000545	Myopia	9/37	OMIM:182212
4054	LTBP3	HP:0000545	Myopia	HP:0040283	ORPHA:2623
4056	LTC4S	HP:0001252	Hypotonia	-	OMIM:614037
4056	LTC4S	HP:0001263	Global developmental delay	-	OMIM:614037
4056	LTC4S	HP:0000007	Autosomal recessive inheritance	-	OMIM:614037
4056	LTC4S	HP:0000252	Microcephaly	-	OMIM:614037
4056	LTC4S	HP:0001531	Failure to thrive in infancy	-	OMIM:614037
4056	LTC4S	HP:0001522	Death in infancy	-	OMIM:614037
4056	LTC4S	HP:0030390	Reduced circulating leukotriene C4 concentration	-	OMIM:614037
4067	LYN	HP:0410242	Abnormal circulating IgG concentration	0/3	OMIM:620376
4067	LYN	HP:0100828	Increased total T cell count	1/1	OMIM:620376
4067	LYN	HP:0002583	Colitis	2/2	OMIM:620376
4067	LYN	HP:0025379	Anti-thyroid peroxidase antibody positivity	1/1	OMIM:620376
4067	LYN	HP:0001396	Cholestasis	1/1	OMIM:620376
4067	LYN	HP:0001395	Hepatic fibrosis	2/3	OMIM:620376
4067	LYN	HP:0025343	Lupus anticoagulant	1/1	OMIM:620376
4067	LYN	HP:0001369	Arthritis	1/1	OMIM:620376
4067	LYN	HP:0000031	Epididymitis	2/2	OMIM:620376
4067	LYN	HP:0000155	Oral ulcer	2/2	OMIM:620376
4067	LYN	HP:0001433	Hepatosplenomegaly	2/2	OMIM:620376
4067	LYN	HP:0002720	Decreased circulating IgA concentration	1/3	OMIM:620376
4067	LYN	HP:0002027	Abdominal pain	3/3	OMIM:620376
4067	LYN	HP:0002014	Diarrhea	1/1	OMIM:620376
4067	LYN	HP:0002007	Frontal bossing	1/1	OMIM:620376
4067	LYN	HP:0100539	Periorbital edema	2/2	OMIM:620376
4067	LYN	HP:0002099	Asthma	1/1	OMIM:620376
4067	LYN	HP:0030948	Elevated gamma-glutamyltransferase level	2/2	OMIM:620376
4067	LYN	HP:0011850	Parotitis	1/1	OMIM:620376
4067	LYN	HP:0002240	Hepatomegaly	1/1	OMIM:620376
4067	LYN	HP:0003565	Elevated erythrocyte sedimentation rate	1/1	OMIM:620376
4067	LYN	HP:0011944	Small vessel vasculitis	2/2	OMIM:620376
4067	LYN	HP:0001047	Atopic dermatitis	1/1	OMIM:620376
4067	LYN	HP:0001025	Urticaria	1/1	OMIM:620376
4067	LYN	HP:0002315	Headache	2/2	OMIM:620376
4067	LYN	HP:0010783	Erythema	1/1	OMIM:620376
4067	LYN	HP:0003623	Neonatal onset	4/4	OMIM:620376
4067	LYN	HP:0004970	Ascending tubular aorta aneurysm	1/1	OMIM:620376
4067	LYN	HP:4000037	Congenital hydrocele	1/1	OMIM:620376
4067	LYN	HP:0001974	Increased total leukocyte count	2/2	OMIM:620376
4067	LYN	HP:0001945	Fever	3/3	OMIM:620376
4067	LYN	HP:0001903	Anemia	2/2	OMIM:620376
4067	LYN	HP:0031956	Elevated circulating aspartate aminotransferase concentration	2/2	OMIM:620376
4067	LYN	HP:0031964	Elevated circulating alanine aminotransferase concentration	2/2	OMIM:620376
4067	LYN	HP:0030783	Increased circulating interleukin 6 concentration	1/1	OMIM:620376
4067	LYN	HP:0000979	Purpura	3/3	OMIM:620376
4067	LYN	HP:0000952	Jaundice	1/1	OMIM:620376
4067	LYN	HP:0033040	Anti-Sm antibody positivity	1/1	OMIM:620376
4067	LYN	HP:0002829	Arthralgia	2/2	OMIM:620376
4067	LYN	HP:0001508	Failure to thrive	1/1	OMIM:620376
4067	LYN	HP:0002850	Decreased circulating total IgM	2/3	OMIM:620376
4067	LYN	HP:0001511	Intrauterine growth retardation	2/2	OMIM:620376
4067	LYN	HP:0012378	Fatigue	2/2	OMIM:620376
4067	LYN	HP:0006559	Hepatic calcification	1/1	OMIM:620376
4067	LYN	HP:0002923	Rheumatoid factor positive	1/1	OMIM:620376
4067	LYN	HP:0002908	Conjugated hyperbilirubinemia	1/1	OMIM:620376
4067	LYN	HP:0000316	Hypertelorism	1/1	OMIM:620376
4067	LYN	HP:0001622	Premature birth	1/1	OMIM:620376
4067	LYN	HP:0001640	Cardiomegaly	1/1	OMIM:620376
4067	LYN	HP:0030167	Antimitochondrial antibody positivity	1/1	OMIM:620376
4067	LYN	HP:0001789	Hydrops fetalis	1/2	OMIM:620376
4067	LYN	HP:0001744	Splenomegaly	1/1	OMIM:620376
4067	LYN	HP:0005404	Increased total B cell count	1/3	OMIM:620376
4067	LYN	HP:0000509	Conjunctivitis	2/2	OMIM:620376
4067	LYN	HP:0011227	Elevated circulating C-reactive protein concentration	4/4	OMIM:620376
4067	LYN	HP:0001873	Thrombocytopenia	2/2	OMIM:620376
4068	SH2D1A	HP:0002480	Hepatic encephalopathy	-	OMIM:308240
4068	SH2D1A	HP:0100827	Increased total lymphocyte count	-	OMIM:308240
4068	SH2D1A	HP:0001287	Meningitis	1/6	OMIM:308240
4068	SH2D1A	HP:0010975	Abnormal B cell count	0/7	OMIM:308240
4068	SH2D1A	HP:0001399	Hepatic failure	1/6	OMIM:308240
4068	SH2D1A	HP:0002665	Lymphoma	25/104	OMIM:308240
4068	SH2D1A	HP:0002633	Vasculitis	2/91	OMIM:308240
4068	SH2D1A	HP:0012177	Abnormal natural killer cell physiology	1/1	OMIM:308240
4068	SH2D1A	HP:0012156	Hemophagocytosis	39/118	OMIM:308240
4068	SH2D1A	HP:0001419	X-linked recessive inheritance	-	OMIM:308240
4068	SH2D1A	HP:0002716	Lymphadenopathy	-	OMIM:308240
4068	SH2D1A	HP:0002721	Immunodeficiency	-	OMIM:308240
4068	SH2D1A	HP:0004787	Fulminant hepatitis	1/6	OMIM:308240
4068	SH2D1A	HP:0003496	Increased circulating IgM level	-	OMIM:308240
4068	SH2D1A	HP:0011839	Abnormal T cell count	0/13	OMIM:308240
4068	SH2D1A	HP:0002240	Hepatomegaly	3/7	OMIM:308240
4068	SH2D1A	HP:0002205	Recurrent respiratory infections	2/6	OMIM:308240
4068	SH2D1A	HP:0100776	Recurrent pharyngitis	-	OMIM:308240
4068	SH2D1A	HP:0002383	Infectious encephalitis	-	OMIM:308240
4068	SH2D1A	HP:0001954	Recurrent fever	1/1	OMIM:308240
4068	SH2D1A	HP:0001915	Aplastic anemia	3/91	OMIM:308240
4068	SH2D1A	HP:0004315	Decreased circulating IgG concentration	8/13	OMIM:308240
4068	SH2D1A	HP:0004313	Decreased circulating immunoglobulin concentration	10/13	OMIM:308240
4068	SH2D1A	HP:0003073	Hypoalbuminemia	1/1	OMIM:308240
4068	SH2D1A	HP:0011463	Childhood onset	1/1	OMIM:308240
4068	SH2D1A	HP:0030080	Burkitt lymphoma	2/13	OMIM:308240
4068	SH2D1A	HP:0002961	Dysgammaglobulinemia	46/91	OMIM:308240
4068	SH2D1A	HP:0001744	Splenomegaly	2/6	OMIM:308240
4068	SH2D1A	HP:0031693	Severe Epstein Barr virus infection	16/110	OMIM:308240
4068	SH2D1A	HP:0011227	Elevated circulating C-reactive protein concentration	1/1	OMIM:308240
4068	SH2D1A	HP:0001873	Thrombocytopenia	-	OMIM:308240
4068	SH2D1A	HP:0001876	Pancytopenia	1/1	OMIM:308240
4068	SH2D1A	HP:0001875	Decreased total neutrophil count	12/57	OMIM:308240
4069	LYZ	HP:0003774	Stage 5 chronic kidney disease	4/6	OMIM:620658
4069	LYZ	HP:0000083	Renal insufficiency	4/4	OMIM:620658
4069	LYZ	HP:0000093	Proteinuria	1/2	OMIM:620658
4069	LYZ	HP:0000006	Autosomal dominant inheritance	-	OMIM:620658
4069	LYZ	HP:0003596	Middle age onset	2/2	OMIM:620658
4069	LYZ	HP:0010637	Conjunctival amyloidosis	0/1	OMIM:620658
4069	LYZ	HP:0009830	Peripheral neuropathy	0/1	OMIM:620658
4069	LYZ	HP:0001097	Keratoconjunctivitis sicca	1/1	OMIM:620658
4069	LYZ	HP:0001903	Anemia	1/1	OMIM:620658
4069	LYZ	HP:0001917	Renal amyloidosis	4/4	OMIM:620658
4069	LYZ	HP:0011462	Young adult onset	3/3	OMIM:620658
4069	LYZ	HP:0000822	Hypertension	2/2	OMIM:620658
4069	LYZ	HP:0000967	Petechiae	0/1	OMIM:620658
4069	LYZ	HP:0012280	Hepatic amyloidosis	3/3	OMIM:620658
4069	LYZ	HP:0011034	Amyloidosis	1/1	OMIM:620658
4069	LYZ	HP:0001635	Congestive heart failure	1/3	OMIM:620658
4070	TACSTD2	HP:0001131	Corneal dystrophy	-	OMIM:204870
4070	TACSTD2	HP:0009926	Epiphora	HP:0040282	ORPHA:98957
4070	TACSTD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:204870
4070	TACSTD2	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:98957
4070	TACSTD2	HP:0007663	Reduced visual acuity	-	OMIM:204870
4070	TACSTD2	HP:0010637	Conjunctival amyloidosis	HP:0040282	ORPHA:98957
4070	TACSTD2	HP:0034804	Corneal foreign body sensation	-	OMIM:204870
4070	TACSTD2	HP:0034804	Corneal foreign body sensation	HP:0040282	ORPHA:98957
4070	TACSTD2	HP:0200026	Ocular pain	HP:0040282	ORPHA:98957
4070	TACSTD2	HP:0000643	Blepharospasm	HP:0040282	ORPHA:98957
4070	TACSTD2	HP:0000613	Photophobia	HP:0040281	ORPHA:98957
4070	TACSTD2	HP:0000613	Photophobia	-	OMIM:204870
4070	TACSTD2	HP:0000622	Blurred vision	-	OMIM:204870
4070	TACSTD2	HP:0000622	Blurred vision	HP:0040281	ORPHA:98957
4070	TACSTD2	HP:0011493	Central opacification of the cornea	HP:0040283	ORPHA:98957
4070	TACSTD2	HP:0011496	Corneal neovascularization	HP:0040282	ORPHA:98957
4070	TACSTD2	HP:0011463	Childhood onset	-	OMIM:204870
4070	TACSTD2	HP:0008039	Subepithelial corneal opacities	HP:0040282	ORPHA:98957
4070	TACSTD2	HP:0000505	Visual impairment	-	OMIM:204870
4072	EPCAM	HP:0025129	Abnormal small intestinal mucosa morphology	HP:0040282	ORPHA:92050
4072	EPCAM	HP:0001123	Visual field defect	HP:0040283	ORPHA:144
4072	EPCAM	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:144
4072	EPCAM	HP:0001276	Hypertonia	HP:0040282	ORPHA:144
4072	EPCAM	HP:0001288	Gait disturbance	HP:0040283	ORPHA:144
4072	EPCAM	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:144
4072	EPCAM	HP:0001250	Seizure	HP:0040282	ORPHA:144
4072	EPCAM	HP:0001252	Hypotonia	HP:0040282	ORPHA:144
4072	EPCAM	HP:0001260	Dysarthria	HP:0040283	ORPHA:144
4072	EPCAM	HP:0002576	Intussusception	HP:0040283	OMIM:174900
4072	EPCAM	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
4072	EPCAM	HP:0002570	Steatorrhea	HP:0040282	ORPHA:92050
4072	EPCAM	HP:0001217	Clubbing	HP:0040283	OMIM:174900
4072	EPCAM	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:144
4072	EPCAM	HP:0001371	Flexion contracture	HP:0040283	ORPHA:144
4072	EPCAM	HP:0001369	Arthritis	HP:0040283	OMIM:613217
4072	EPCAM	HP:0001369	Arthritis	HP:0040283	ORPHA:92050
4072	EPCAM	HP:0032486	Elevated fecal osmolality	HP:0040282	ORPHA:92050
4072	EPCAM	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:144
4072	EPCAM	HP:0000007	Autosomal recessive inheritance	-	OMIM:613217
4072	EPCAM	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
4072	EPCAM	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
4072	EPCAM	HP:0000006	Autosomal dominant inheritance	-	OMIM:613244
4072	EPCAM	HP:0002652	Skeletal dysplasia	HP:0040284	ORPHA:92050
4072	EPCAM	HP:0002611	Cholestatic liver disease	HP:0040284	ORPHA:92050
4072	EPCAM	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:144
4072	EPCAM	HP:0012118	Laryngeal carcinoma	HP:0040283	ORPHA:144
4072	EPCAM	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:144
4072	EPCAM	HP:0012114	Endometrial carcinoma	1/9	OMIM:613244
4072	EPCAM	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:144
4072	EPCAM	HP:0002023	Anal atresia	HP:0040284	ORPHA:92050
4072	EPCAM	HP:0002024	Malabsorption	HP:0040281	ORPHA:144
4072	EPCAM	HP:0002024	Malabsorption	HP:0040281	ORPHA:92050
4072	EPCAM	HP:0002019	Constipation	HP:0040281	ORPHA:144
4072	EPCAM	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:144
4072	EPCAM	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
4072	EPCAM	HP:0002027	Abdominal pain	HP:0040281	ORPHA:144
4072	EPCAM	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
4072	EPCAM	HP:0002028	Chronic diarrhea	HP:0040281	ORPHA:92050
4072	EPCAM	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
4072	EPCAM	HP:0002013	Vomiting	HP:0040284	ORPHA:92050
4072	EPCAM	HP:0002076	Migraine	HP:0040282	ORPHA:144
4072	EPCAM	HP:0002041	Intractable diarrhea	5/5	OMIM:613217
4072	EPCAM	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:144
4072	EPCAM	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:144
4072	EPCAM	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:144
4072	EPCAM	HP:0011859	Punctate keratitis	HP:0040284	ORPHA:92050
4072	EPCAM	HP:0010526	Dysgraphia	HP:0040283	ORPHA:144
4072	EPCAM	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:144
4072	EPCAM	HP:0034588	Crypt hyperplasia	5/5	OMIM:613217
4072	EPCAM	HP:0003401	Paresthesia	HP:0040283	ORPHA:144
4072	EPCAM	HP:0003596	Middle age onset	2/4	OMIM:613244
4072	EPCAM	HP:0003593	Infantile onset	3/5	OMIM:613217
4072	EPCAM	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:144
4072	EPCAM	HP:0003584	Late onset	1/4	OMIM:613244
4072	EPCAM	HP:0009720	Adenoma sebaceum	HP:0040281	ORPHA:144
4072	EPCAM	HP:0009726	Renal neoplasm	HP:0040283	ORPHA:144
4072	EPCAM	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:144
4072	EPCAM	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:144
4072	EPCAM	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:144
4072	EPCAM	HP:0002376	Developmental regression	HP:0040283	ORPHA:144
4072	EPCAM	HP:0002354	Memory impairment	HP:0040283	ORPHA:144
4072	EPCAM	HP:0200020	Corneal erosion	HP:0040283	ORPHA:92050
4072	EPCAM	HP:0025090	Abnormal large intestinal mucosa morphology	HP:0040283	ORPHA:92050
4072	EPCAM	HP:0100660	Dyskinesia	HP:0040283	ORPHA:144
4072	EPCAM	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:144
4072	EPCAM	HP:0100684	Salivary gland neoplasm	HP:0040283	ORPHA:144
4072	EPCAM	HP:0100615	Ovarian neoplasm	HP:0040283	ORPHA:144
4072	EPCAM	HP:0100613	Death in early adulthood	HP:0040282	ORPHA:144
4072	EPCAM	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:144
4072	EPCAM	HP:0003623	Neonatal onset	2/5	OMIM:613217
4072	EPCAM	HP:0000613	Photophobia	HP:0040283	ORPHA:92050
4072	EPCAM	HP:0001944	Dehydration	HP:0040282	ORPHA:92050
4072	EPCAM	HP:0001903	Anemia	HP:0040282	OMIM:174900
4072	EPCAM	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:144
4072	EPCAM	HP:0003003	Colon cancer	20%	OMIM:174900
4072	EPCAM	HP:0003003	Colon cancer	5/12	OMIM:608456
4072	EPCAM	HP:0003003	Colon cancer	HP:0040282	ORPHA:144
4072	EPCAM	HP:0003003	Colon cancer	2/10	OMIM:613244
4072	EPCAM	HP:0003073	Hypoalbuminemia	-	OMIM:174900
4072	EPCAM	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
4072	EPCAM	HP:0004377	Hematological neoplasm	HP:0040283	ORPHA:144
4072	EPCAM	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:144
4072	EPCAM	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:144
4072	EPCAM	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:144
4072	EPCAM	HP:0000738	Hallucinations	HP:0040283	ORPHA:144
4072	EPCAM	HP:0000737	Irritability	HP:0040282	ORPHA:144
4072	EPCAM	HP:0000737	Irritability	HP:0040282	ORPHA:92050
4072	EPCAM	HP:0000739	Anxiety	HP:0040282	ORPHA:144
4072	EPCAM	HP:0000716	Depression	HP:0040282	ORPHA:144
4072	EPCAM	HP:0000708	Atypical behavior	HP:0040282	ORPHA:144
4072	EPCAM	HP:0011473	Villous atrophy	HP:0040281	ORPHA:92050
4072	EPCAM	HP:0011473	Villous atrophy	5/5	OMIM:613217
4072	EPCAM	HP:0003270	Abdominal distention	HP:0040282	ORPHA:92050
4072	EPCAM	HP:0000951	Abnormality of the skin	HP:0040283	ORPHA:92050
4072	EPCAM	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:144
4072	EPCAM	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:144
4072	EPCAM	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:144
4072	EPCAM	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:144
4072	EPCAM	HP:0001522	Death in infancy	HP:0040282	ORPHA:144
4072	EPCAM	HP:0000202	Orofacial cleft	HP:0040284	ORPHA:92050
4072	EPCAM	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
4072	EPCAM	HP:0001508	Failure to thrive	3/5	OMIM:613217
4072	EPCAM	HP:0001508	Failure to thrive	HP:0040281	ORPHA:92050
4072	EPCAM	HP:0001518	Small for gestational age	HP:0040283	OMIM:613217
4072	EPCAM	HP:0012378	Fatigue	HP:0040281	ORPHA:144
4072	EPCAM	HP:0005208	Secretory diarrhea	HP:0040282	ORPHA:92050
4072	EPCAM	HP:0005227	Adenomatous colonic polyposis	1/10	OMIM:613244
4072	EPCAM	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
4072	EPCAM	HP:0002900	Hypokalemia	-	OMIM:174900
4072	EPCAM	HP:0000453	Choanal atresia	HP:0040284	ORPHA:92050
4072	EPCAM	HP:0025710	Late young adult onset	1/4	OMIM:613244
4072	EPCAM	HP:0006753	Neoplasm of the stomach	HP:0040282	ORPHA:144
4072	EPCAM	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
4072	EPCAM	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:144
4072	EPCAM	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:613244
4072	EPCAM	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
4072	EPCAM	HP:0006758	Malignant genitourinary tract tumor	HP:0040283	ORPHA:144
4072	EPCAM	HP:0000518	Cataract	HP:0040283	ORPHA:92050
4072	EPCAM	HP:0001824	Weight loss	HP:0040281	ORPHA:144
4072	EPCAM	HP:0001824	Weight loss	HP:0040282	ORPHA:92050
4072	EPCAM	HP:0000505	Visual impairment	HP:0040283	ORPHA:144
4072	EPCAM	HP:0000588	Optic disc coloboma	HP:0040284	ORPHA:92050
4076	CAPRIN1	HP:0001195	Single umbilical artery	1/12	OMIM:620782
4076	CAPRIN1	HP:0003701	Proximal muscle weakness	1/1	OMIM:620636
4076	CAPRIN1	HP:0001272	Cerebellar atrophy	2/2	OMIM:620636
4076	CAPRIN1	HP:0001284	Areflexia	1/2	OMIM:620636
4076	CAPRIN1	HP:0001251	Ataxia	1/1	OMIM:620636
4076	CAPRIN1	HP:0001260	Dysarthria	2/2	OMIM:620636
4076	CAPRIN1	HP:0001263	Global developmental delay	5/12	OMIM:620782
4076	CAPRIN1	HP:0007359	Focal-onset seizure	1/12	OMIM:620782
4076	CAPRIN1	HP:0001212	Prominent fingertip pads	2/12	OMIM:620782
4076	CAPRIN1	HP:0002521	Hypsarrhythmia	1/12	OMIM:620782
4076	CAPRIN1	HP:0002505	Loss of ambulation	1/1	OMIM:620636
4076	CAPRIN1	HP:0001337	Tremor	1/2	OMIM:620636
4076	CAPRIN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620636
4076	CAPRIN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620782
4076	CAPRIN1	HP:0002650	Scoliosis	1/2	OMIM:620636
4076	CAPRIN1	HP:0002015	Dysphagia	1/2	OMIM:620636
4076	CAPRIN1	HP:0003391	Gowers sign	1/2	OMIM:620636
4076	CAPRIN1	HP:0002075	Dysdiadochokinesis	1/2	OMIM:620636
4076	CAPRIN1	HP:0002059	Cerebral atrophy	1/2	OMIM:620636
4076	CAPRIN1	HP:0003477	Peripheral axonal neuropathy	2/2	OMIM:620636
4076	CAPRIN1	HP:0002121	Generalized non-motor (absence) seizure	2/12	OMIM:620782
4076	CAPRIN1	HP:0003593	Infantile onset	2/12	OMIM:620782
4076	CAPRIN1	HP:0003577	Congenital onset	1/12	OMIM:620782
4076	CAPRIN1	HP:0007018	Attention deficit hyperactivity disorder	9/11	OMIM:620782
4076	CAPRIN1	HP:0002317	Unsteady gait	2/2	OMIM:620636
4076	CAPRIN1	HP:0009765	Low hanging columella	1/12	OMIM:620782
4076	CAPRIN1	HP:0003621	Juvenile onset	1/2	OMIM:620636
4076	CAPRIN1	HP:0004209	Clinodactyly of the 5th finger	1/12	OMIM:620782
4076	CAPRIN1	HP:0000601	Hypotelorism	1/12	OMIM:620782
4076	CAPRIN1	HP:0000739	Anxiety	1/12	OMIM:620782
4076	CAPRIN1	HP:0000750	Delayed speech and language development	12/12	OMIM:620782
4076	CAPRIN1	HP:0000718	Aggressive behavior	1/12	OMIM:620782
4076	CAPRIN1	HP:0000729	Autistic behavior	9/12	OMIM:620782
4076	CAPRIN1	HP:0011463	Childhood onset	1/2	OMIM:620636
4076	CAPRIN1	HP:0011463	Childhood onset	9/12	OMIM:620782
4076	CAPRIN1	HP:0003202	Skeletal muscle atrophy	2/2	OMIM:620636
4076	CAPRIN1	HP:0034332	Cognitive regression	1/1	OMIM:620636
4076	CAPRIN1	HP:0000957	Cafe-au-lait spot	2/12	OMIM:620782
4076	CAPRIN1	HP:0000960	Sacral dimple	1/12	OMIM:620782
4076	CAPRIN1	HP:0000294	Low anterior hairline	1/12	OMIM:620782
4076	CAPRIN1	HP:0000276	Long face	2/12	OMIM:620782
4076	CAPRIN1	HP:0000219	Thin upper lip vermilion	2/12	OMIM:620782
4076	CAPRIN1	HP:0002870	Obstructive sleep apnea	2/12	OMIM:620782
4076	CAPRIN1	HP:0001537	Umbilical hernia	1/12	OMIM:620782
4076	CAPRIN1	HP:0000201	Pierre-Robin sequence	1/12	OMIM:620782
4076	CAPRIN1	HP:0000365	Hearing impairment	3/12	OMIM:620782
4076	CAPRIN1	HP:0000347	Micrognathia	1/12	OMIM:620782
4076	CAPRIN1	HP:0000316	Hypertelorism	1/12	OMIM:620782
4076	CAPRIN1	HP:0000483	Astigmatism	2/12	OMIM:620782
4076	CAPRIN1	HP:0000486	Strabismus	3/12	OMIM:620782
4076	CAPRIN1	HP:0012469	Infantile spasms	1/12	OMIM:620782
4076	CAPRIN1	HP:0000490	Deeply set eye	1/12	OMIM:620782
4076	CAPRIN1	HP:0000455	Broad nasal tip	1/12	OMIM:620782
4076	CAPRIN1	HP:0000508	Ptosis	1/12	OMIM:620782
4076	CAPRIN1	HP:0011265	Cleft earlobe	1/12	OMIM:620782
4076	CAPRIN1	HP:0000540	Hypermetropia	1/12	OMIM:620782
4076	CAPRIN1	HP:0000545	Myopia	1/12	OMIM:620782
4081	MAB21L1	HP:0002465	Poor speech	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0001131	Corneal dystrophy	HP:0040281	ORPHA:495875
4081	MAB21L1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0001263	Global developmental delay	1/1	OMIM:618479
4081	MAB21L1	HP:0008729	Absence of labia majora	HP:0040281	ORPHA:495875
4081	MAB21L1	HP:0008707	Absent scrotum	1/1	OMIM:618479
4081	MAB21L1	HP:0008707	Absent scrotum	HP:0040281	ORPHA:495875
4081	MAB21L1	HP:0000064	Hypoplastic labia minora	HP:0040283	ORPHA:495875
4081	MAB21L1	HP:0000047	Hypospadias	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0001350	Slurred speech	HP:0040283	ORPHA:495875
4081	MAB21L1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:495875
4081	MAB21L1	HP:0001344	Absent speech	1/1	OMIM:618479
4081	MAB21L1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618479
4081	MAB21L1	HP:0001305	Dandy-Walker malformation	1/1	OMIM:618479
4081	MAB21L1	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0001321	Cerebellar hypoplasia	-	OMIM:618479
4081	MAB21L1	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:495875
4081	MAB21L1	HP:0012110	Hypoplasia of the pons	HP:0040284	OMIM:618479
4081	MAB21L1	HP:0012110	Hypoplasia of the pons	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0025405	Visual fixation instability	HP:0040283	ORPHA:495875
4081	MAB21L1	HP:0000107	Renal cyst	HP:0040283	ORPHA:495875
4081	MAB21L1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:495875
4081	MAB21L1	HP:0002000	Short columella	HP:0040283	ORPHA:495875
4081	MAB21L1	HP:0002066	Gait ataxia	-	OMIM:618479
4081	MAB21L1	HP:0002136	Broad-based gait	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0002172	Postural instability	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0011825	Tented philtrum	1/1	OMIM:618479
4081	MAB21L1	HP:0011825	Tented philtrum	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0003577	Congenital onset	1/1	OMIM:618479
4081	MAB21L1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:495875
4081	MAB21L1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0001007	Hirsutism	1/1	OMIM:618479
4081	MAB21L1	HP:0001007	Hirsutism	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0001097	Keratoconjunctivitis sicca	-	OMIM:618479
4081	MAB21L1	HP:0001097	Keratoconjunctivitis sicca	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0006801	Hyperactive deep tendon reflexes	-	OMIM:618479
4081	MAB21L1	HP:0000639	Nystagmus	1/1	OMIM:618479
4081	MAB21L1	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:495875
4081	MAB21L1	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0011343	Moderate global developmental delay	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0000664	Synophrys	1/1	OMIM:618479
4081	MAB21L1	HP:0000664	Synophrys	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0000666	Horizontal nystagmus	-	OMIM:618479
4081	MAB21L1	HP:0000666	Horizontal nystagmus	HP:0040281	ORPHA:495875
4081	MAB21L1	HP:0000718	Aggressive behavior	-	OMIM:618479
4081	MAB21L1	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:495875
4081	MAB21L1	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:495875
4081	MAB21L1	HP:0040171	Decreased serum testosterone concentration	HP:0040283	ORPHA:495875
4081	MAB21L1	HP:0000280	Coarse facial features	HP:0040281	ORPHA:495875
4081	MAB21L1	HP:0000294	Low anterior hairline	1/1	OMIM:618479
4081	MAB21L1	HP:0000294	Low anterior hairline	HP:0040281	ORPHA:495875
4081	MAB21L1	HP:0000252	Microcephaly	HP:0040283	ORPHA:495875
4081	MAB21L1	HP:0000252	Microcephaly	HP:0040284	OMIM:618479
4081	MAB21L1	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:495875
4081	MAB21L1	HP:0000358	Posteriorly rotated ears	-	OMIM:618479
4081	MAB21L1	HP:0000369	Low-set ears	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0000369	Low-set ears	-	OMIM:618479
4081	MAB21L1	HP:0000343	Long philtrum	1/1	OMIM:618479
4081	MAB21L1	HP:0000343	Long philtrum	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0000350	Small forehead	HP:0040281	ORPHA:495875
4081	MAB21L1	HP:0000347	Micrognathia	HP:0040283	ORPHA:495875
4081	MAB21L1	HP:0000319	Smooth philtrum	-	OMIM:618479
4081	MAB21L1	HP:0007957	Corneal opacity	HP:0040281	ORPHA:495875
4081	MAB21L1	HP:0006610	Wide intermamillary distance	-	OMIM:618479
4081	MAB21L1	HP:0006610	Wide intermamillary distance	HP:0040283	ORPHA:495875
4081	MAB21L1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0000486	Strabismus	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0000486	Strabismus	1/1	OMIM:618479
4081	MAB21L1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0000463	Anteverted nares	1/1	OMIM:618479
4081	MAB21L1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0000455	Broad nasal tip	HP:0040283	ORPHA:495875
4081	MAB21L1	HP:0000470	Short neck	HP:0040283	ORPHA:495875
4081	MAB21L1	HP:0000411	Protruding ear	-	OMIM:618479
4081	MAB21L1	HP:0000527	Long eyelashes	-	OMIM:618479
4081	MAB21L1	HP:0000527	Long eyelashes	HP:0040283	ORPHA:495875
4081	MAB21L1	HP:0000505	Visual impairment	-	OMIM:618479
4081	MAB21L1	HP:0000505	Visual impairment	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0011229	Broad eyebrow	HP:0040281	ORPHA:495875
4081	MAB21L1	HP:0011230	Laterally extended eyebrow	-	OMIM:618479
4081	MAB21L1	HP:0000557	Buphthalmos	HP:0040282	ORPHA:495875
4081	MAB21L1	HP:0000557	Buphthalmos	1/1	OMIM:618479
4081	MAB21L1	HP:0000546	Retinal degeneration	-	OMIM:618479
4087	SMAD2	HP:0009901	Crumpled ear	90/119	OMIM:121050
4087	SMAD2	HP:0001181	Adducted thumb	42/90	OMIM:121050
4087	SMAD2	HP:0001166	Arachnodactyly	104/124	OMIM:121050
4087	SMAD2	HP:0001166	Arachnodactyly	124/197	OMIM:154700
4087	SMAD2	HP:0001166	Arachnodactyly	34/37	OMIM:182212
4087	SMAD2	HP:0001166	Arachnodactyly	6/15	OMIM:208050
4087	SMAD2	HP:0001166	Arachnodactyly	6/14	OMIM:619656
4087	SMAD2	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:60030
4087	SMAD2	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0410151	Eosinophilic infiltration of the esophagus	HP:0040283	ORPHA:60030
4087	SMAD2	HP:0010882	Pulmonary valve atresia	1/5	OMIM:619657
4087	SMAD2	HP:0010886	Osteochondritis dissecans	0/2	OMIM:619656
4087	SMAD2	HP:0003745	Sporadic	-	OMIM:182212
4087	SMAD2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
4087	SMAD2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4087	SMAD2	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
4087	SMAD2	HP:0001297	Stroke	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0001293	Cranial nerve compression	-	OMIM:131300
4087	SMAD2	HP:0001290	Generalized hypotonia	-	OMIM:208050
4087	SMAD2	HP:0001290	Generalized hypotonia	-	OMIM:182212
4087	SMAD2	HP:0001270	Motor delay	-	OMIM:121050
4087	SMAD2	HP:0001250	Seizure	1/4	OMIM:619657
4087	SMAD2	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
4087	SMAD2	HP:0001252	Hypotonia	2/7	OMIM:615777
4087	SMAD2	HP:0001252	Hypotonia	26/37	OMIM:182212
4087	SMAD2	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
4087	SMAD2	HP:0001249	Intellectual disability	5/7	OMIM:615777
4087	SMAD2	HP:0001249	Intellectual disability	-	OMIM:182212
4087	SMAD2	HP:0001263	Global developmental delay	2/3	OMIM:619657
4087	SMAD2	HP:0001263	Global developmental delay	-	OMIM:615777
4087	SMAD2	HP:0001263	Global developmental delay	-	OMIM:182212
4087	SMAD2	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
4087	SMAD2	HP:0002566	Intestinal malrotation	1/5	OMIM:619657
4087	SMAD2	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
4087	SMAD2	HP:0002515	Waddling gait	54/102	OMIM:131300
4087	SMAD2	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
4087	SMAD2	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
4087	SMAD2	HP:0000098	Tall stature	-	OMIM:154700
4087	SMAD2	HP:0000098	Tall stature	5/10	OMIM:619656
4087	SMAD2	HP:0000098	Tall stature	HP:0040282	ORPHA:60030
4087	SMAD2	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0001377	Limited elbow extension	94/109	OMIM:121050
4087	SMAD2	HP:0001377	Limited elbow extension	29/199	OMIM:154700
4087	SMAD2	HP:0001371	Flexion contracture	-	OMIM:208050
4087	SMAD2	HP:0001371	Flexion contracture	-	OMIM:154700
4087	SMAD2	HP:0001373	Joint dislocation	HP:0040283	ORPHA:60030
4087	SMAD2	HP:0001382	Joint hypermobility	1/5	OMIM:619656
4087	SMAD2	HP:0001382	Joint hypermobility	1/1	OMIM:130050
4087	SMAD2	HP:0001382	Joint hypermobility	12/14	OMIM:208050
4087	SMAD2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:60030
4087	SMAD2	HP:0001382	Joint hypermobility	11/53	OMIM:154700
4087	SMAD2	HP:0001382	Joint hypermobility	-	OMIM:615777
4087	SMAD2	HP:0001382	Joint hypermobility	31/47	OMIM:182212
4087	SMAD2	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0000023	Inguinal hernia	5/11	OMIM:619656
4087	SMAD2	HP:0000023	Inguinal hernia	11/11	OMIM:130050
4087	SMAD2	HP:0000023	Inguinal hernia	8/15	OMIM:208050
4087	SMAD2	HP:0000023	Inguinal hernia	19/34	OMIM:182212
4087	SMAD2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:60030
4087	SMAD2	HP:0001363	Craniosynostosis	18/37	OMIM:182212
4087	SMAD2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4087	SMAD2	HP:0000028	Cryptorchidism	1/1	OMIM:130050
4087	SMAD2	HP:0000028	Cryptorchidism	1/13	OMIM:182212
4087	SMAD2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4087	SMAD2	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
4087	SMAD2	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
4087	SMAD2	HP:0008843	Hip osteoarthritis	1/2	OMIM:619656
4087	SMAD2	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
4087	SMAD2	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
4087	SMAD2	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
4087	SMAD2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4087	SMAD2	HP:0001324	Muscle weakness	40/96	OMIM:131300
4087	SMAD2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4087	SMAD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619657
4087	SMAD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
4087	SMAD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4087	SMAD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619656
4087	SMAD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619657
4087	SMAD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
4087	SMAD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
4087	SMAD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
4087	SMAD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4087	SMAD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
4087	SMAD2	HP:0002650	Scoliosis	5/12	OMIM:619656
4087	SMAD2	HP:0002650	Scoliosis	16/53	OMIM:154700
4087	SMAD2	HP:0002650	Scoliosis	11/15	OMIM:121050
4087	SMAD2	HP:0002650	Scoliosis	12/14	OMIM:131300
4087	SMAD2	HP:0002650	Scoliosis	3/15	OMIM:208050
4087	SMAD2	HP:0002650	Scoliosis	HP:0040282	ORPHA:60030
4087	SMAD2	HP:0002650	Scoliosis	23/37	OMIM:182212
4087	SMAD2	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0002647	Aortic dissection	1/58	OMIM:154700
4087	SMAD2	HP:0002647	Aortic dissection	HP:0040281	ORPHA:60030
4087	SMAD2	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4087	SMAD2	HP:0002619	Varicose veins	-	OMIM:130050
4087	SMAD2	HP:0002619	Varicose veins	4/12	OMIM:619656
4087	SMAD2	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
4087	SMAD2	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
4087	SMAD2	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
4087	SMAD2	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0002617	Vascular dilatation	HP:0040281	ORPHA:60030
4087	SMAD2	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
4087	SMAD2	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
4087	SMAD2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4087	SMAD2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4087	SMAD2	HP:0000189	Narrow palate	-	OMIM:182212
4087	SMAD2	HP:0000189	Narrow palate	-	OMIM:154700
4087	SMAD2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4087	SMAD2	HP:0000193	Bifid uvula	0/14	OMIM:208050
4087	SMAD2	HP:0000193	Bifid uvula	1/14	OMIM:619656
4087	SMAD2	HP:0000193	Bifid uvula	HP:0040282	ORPHA:60030
4087	SMAD2	HP:0012158	Carotid artery dissection	2/11	OMIM:619656
4087	SMAD2	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
4087	SMAD2	HP:0012163	Carotid artery dilatation	1/3	OMIM:619656
4087	SMAD2	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0012151	Hemothorax	3/4	OMIM:130050
4087	SMAD2	HP:0000175	Cleft palate	HP:0040282	ORPHA:60030
4087	SMAD2	HP:0000175	Cleft palate	2/7	OMIM:615777
4087	SMAD2	HP:0000139	Uterine prolapse	-	OMIM:130050
4087	SMAD2	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
4087	SMAD2	HP:0006315	Solitary median maxillary central incisor	1/1	OMIM:619657
4087	SMAD2	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
4087	SMAD2	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0007598	Bilateral single transverse palmar creases	1/4	OMIM:619657
4087	SMAD2	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
4087	SMAD2	HP:0002758	Osteoarthritis	2/2	OMIM:619656
4087	SMAD2	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
4087	SMAD2	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
4087	SMAD2	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
4087	SMAD2	HP:0002036	Hiatus hernia	-	OMIM:208050
4087	SMAD2	HP:0002007	Frontal bossing	-	OMIM:121050
4087	SMAD2	HP:0002007	Frontal bossing	-	OMIM:182212
4087	SMAD2	HP:0003302	Spondylolisthesis	-	OMIM:154700
4087	SMAD2	HP:0011800	Midface retrusion	1/1	OMIM:619656
4087	SMAD2	HP:0011800	Midface retrusion	2/3	OMIM:619657
4087	SMAD2	HP:0002099	Asthma	HP:0040282	ORPHA:60030
4087	SMAD2	HP:0002097	Emphysema	8/9	OMIM:130050
4087	SMAD2	HP:0002097	Emphysema	HP:0040283	OMIM:154700
4087	SMAD2	HP:0002076	Migraine	5/10	OMIM:619656
4087	SMAD2	HP:0030961	Microspherophakia	2/53	OMIM:154700
4087	SMAD2	HP:0003388	Easy fatigability	36/76	OMIM:131300
4087	SMAD2	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
4087	SMAD2	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
4087	SMAD2	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
4087	SMAD2	HP:0011755	Ectopic posterior pituitary	1/1	OMIM:619657
4087	SMAD2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4087	SMAD2	HP:0010499	Patellar subluxation	12/22	OMIM:121050
4087	SMAD2	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
4087	SMAD2	HP:0002140	Ischemic stroke	-	OMIM:208050
4087	SMAD2	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
4087	SMAD2	HP:0002108	Spontaneous pneumothorax	HP:0040283	ORPHA:60030
4087	SMAD2	HP:0002108	Spontaneous pneumothorax	0/9	OMIM:619656
4087	SMAD2	HP:0002107	Pneumothorax	2/2	OMIM:130050
4087	SMAD2	HP:0002107	Pneumothorax	6/53	OMIM:154700
4087	SMAD2	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0002105	Hemoptysis	6/10	OMIM:130050
4087	SMAD2	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
4087	SMAD2	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:60030
4087	SMAD2	HP:0003596	Middle age onset	1/6	OMIM:619656
4087	SMAD2	HP:0003593	Infantile onset	5/16	OMIM:208050
4087	SMAD2	HP:0002245	Meckel diverticulum	1/1	OMIM:619657
4087	SMAD2	HP:0003577	Congenital onset	1/6	OMIM:619656
4087	SMAD2	HP:0003577	Congenital onset	4/5	OMIM:619657
4087	SMAD2	HP:0003577	Congenital onset	5/5	OMIM:121050
4087	SMAD2	HP:0003577	Congenital onset	12/26	OMIM:208050
4087	SMAD2	HP:0003584	Late onset	1/6	OMIM:619656
4087	SMAD2	HP:0003581	Adult onset	1/1	OMIM:619656
4087	SMAD2	HP:0100718	Uterine rupture	-	OMIM:130050
4087	SMAD2	HP:0100718	Uterine rupture	HP:0040281	ORPHA:60030
4087	SMAD2	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
4087	SMAD2	HP:0004872	Incisional hernia	-	OMIM:154700
4087	SMAD2	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
4087	SMAD2	HP:0100775	Dural ectasia	112/140	OMIM:154700
4087	SMAD2	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0100749	Chest pain	1/2	OMIM:130050
4087	SMAD2	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
4087	SMAD2	HP:0002293	Alopecia of scalp	-	OMIM:130050
4087	SMAD2	HP:0034671	Knee contracture	7/14	OMIM:121050
4087	SMAD2	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
4087	SMAD2	HP:0010648	Dermal translucency	3/3	OMIM:130050
4087	SMAD2	HP:0010648	Dermal translucency	1/5	OMIM:619656
4087	SMAD2	HP:0010627	Anterior pituitary hypoplasia	1/1	OMIM:619657
4087	SMAD2	HP:0003510	Severe short stature	7/7	OMIM:615777
4087	SMAD2	HP:0007099	Chiari type I malformation	-	OMIM:182212
4087	SMAD2	HP:0025019	Arterial rupture	-	OMIM:130050
4087	SMAD2	HP:0001065	Striae distensae	11/53	OMIM:154700
4087	SMAD2	HP:0001065	Striae distensae	3/9	OMIM:619656
4087	SMAD2	HP:0001065	Striae distensae	HP:0040282	ORPHA:60030
4087	SMAD2	HP:0001030	Fragile skin	-	OMIM:130050
4087	SMAD2	HP:0001027	Soft, doughy skin	-	OMIM:208050
4087	SMAD2	HP:0002315	Headache	-	OMIM:131300
4087	SMAD2	HP:0004976	Knee dislocation	6/7	OMIM:615777
4087	SMAD2	HP:0002326	Transient ischemic attack	0/6	OMIM:619656
4087	SMAD2	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0100645	Cystocele	-	OMIM:130050
4087	SMAD2	HP:0010809	Broad uvula	1/10	OMIM:619656
4087	SMAD2	HP:0001073	Cigarette-paper scars	-	OMIM:130050
4087	SMAD2	HP:0009803	Short phalanx of finger	-	OMIM:615777
4087	SMAD2	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
4087	SMAD2	HP:0001083	Ectopia lentis	119/251	OMIM:154700
4087	SMAD2	HP:0010773	Partial anomalous pulmonary venous return	1/2	OMIM:619657
4087	SMAD2	HP:0010772	Anomalous pulmonary venous return	2/5	OMIM:619657
4087	SMAD2	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
4087	SMAD2	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
4087	SMAD2	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
4087	SMAD2	HP:0009763	Limb pain	63/92	OMIM:131300
4087	SMAD2	HP:0008419	Intervertebral disk degeneration	3/4	OMIM:619656
4087	SMAD2	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
4087	SMAD2	HP:0003623	Neonatal onset	3/16	OMIM:208050
4087	SMAD2	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
4087	SMAD2	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
4087	SMAD2	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
4087	SMAD2	HP:0003621	Juvenile onset	-	OMIM:131300
4087	SMAD2	HP:0003621	Juvenile onset	2/16	OMIM:208050
4087	SMAD2	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
4087	SMAD2	HP:0004944	Dilatation of the cerebral artery	3/11	OMIM:619656
4087	SMAD2	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
4087	SMAD2	HP:0004942	Aortic aneurysm	HP:0040281	ORPHA:60030
4087	SMAD2	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
4087	SMAD2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4087	SMAD2	HP:0031853	Isomerism	1/4	OMIM:619657
4087	SMAD2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4087	SMAD2	HP:6001056	Out-toeing	-	OMIM:131300
4087	SMAD2	HP:0000651	Diplopia	-	OMIM:131300
4087	SMAD2	HP:0001977	Abnormal thrombosis	-	OMIM:208050
4087	SMAD2	HP:0001956	Truncal obesity	2/7	OMIM:615777
4087	SMAD2	HP:0001903	Anemia	1/1	OMIM:130050
4087	SMAD2	HP:0001903	Anemia	HP:0040283	OMIM:131300
4087	SMAD2	HP:0010049	Short metacarpal	-	OMIM:615777
4087	SMAD2	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
4087	SMAD2	HP:0000678	Dental crowding	8/53	OMIM:154700
4087	SMAD2	HP:0000678	Dental crowding	-	OMIM:615777
4087	SMAD2	HP:0000678	Dental crowding	1/2	OMIM:619657
4087	SMAD2	HP:0000689	Dental malocclusion	-	OMIM:182212
4087	SMAD2	HP:0000670	Carious teeth	-	OMIM:131300
4087	SMAD2	HP:0011304	Broad thumb	2/7	OMIM:615777
4087	SMAD2	HP:0000668	Hypodontia	-	OMIM:615777
4087	SMAD2	HP:0000664	Synophrys	-	OMIM:615777
4087	SMAD2	HP:0004322	Short stature	1/1	OMIM:619656
4087	SMAD2	HP:0004322	Short stature	2/4	OMIM:619657
4087	SMAD2	HP:0004322	Short stature	-	OMIM:130050
4087	SMAD2	HP:0006956	Lateral ventricle dilatation	1/1	OMIM:619657
4087	SMAD2	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
4087	SMAD2	HP:0003088	Premature osteoarthritis	-	OMIM:154700
4087	SMAD2	HP:0003083	Dislocated radial head	5/37	OMIM:182212
4087	SMAD2	HP:0003066	Limited knee extension	38/45	OMIM:121050
4087	SMAD2	HP:0004396	Poor appetite	-	OMIM:131300
4087	SMAD2	HP:0034179	Vertebral artery aneurysm	1/3	OMIM:619656
4087	SMAD2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4087	SMAD2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4087	SMAD2	HP:0003042	Elbow dislocation	1/12	OMIM:121050
4087	SMAD2	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
4087	SMAD2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4087	SMAD2	HP:0003026	Short long bone	7/7	OMIM:615777
4087	SMAD2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4087	SMAD2	HP:0005684	Distal arthrogryposis	-	OMIM:121050
4087	SMAD2	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
4087	SMAD2	HP:0000767	Pectus excavatum	2/14	OMIM:121050
4087	SMAD2	HP:0000767	Pectus excavatum	1/4	OMIM:130050
4087	SMAD2	HP:0000767	Pectus excavatum	3/15	OMIM:208050
4087	SMAD2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:60030
4087	SMAD2	HP:0000767	Pectus excavatum	44/146	OMIM:154700
4087	SMAD2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4087	SMAD2	HP:0000767	Pectus excavatum	-	OMIM:182212
4087	SMAD2	HP:0000766	Abnormal sternum morphology	3/13	OMIM:619656
4087	SMAD2	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0000768	Pectus carinatum	4/14	OMIM:121050
4087	SMAD2	HP:0000768	Pectus carinatum	2/15	OMIM:208050
4087	SMAD2	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:60030
4087	SMAD2	HP:0000768	Pectus carinatum	58/146	OMIM:154700
4087	SMAD2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4087	SMAD2	HP:0000768	Pectus carinatum	-	OMIM:182212
4087	SMAD2	HP:0012727	Thoracic aortic aneurysm	10/15	OMIM:619656
4087	SMAD2	HP:0012727	Thoracic aortic aneurysm	2/4	OMIM:619657
4087	SMAD2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4087	SMAD2	HP:0000750	Delayed speech and language development	-	OMIM:615777
4087	SMAD2	HP:0000704	Periodontitis	-	OMIM:130050
4087	SMAD2	HP:0011463	Childhood onset	1/6	OMIM:619656
4087	SMAD2	HP:0011463	Childhood onset	1/16	OMIM:208050
4087	SMAD2	HP:0011462	Young adult onset	2/6	OMIM:619656
4087	SMAD2	HP:0011462	Young adult onset	3/16	OMIM:208050
4087	SMAD2	HP:0011461	Fetal onset	7/7	OMIM:615777
4087	SMAD2	HP:0011461	Fetal onset	1/3	OMIM:619657
4087	SMAD2	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
4087	SMAD2	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
4087	SMAD2	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
4087	SMAD2	HP:0000774	Narrow chest	2/7	OMIM:615777
4087	SMAD2	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
4087	SMAD2	HP:0000776	Congenital diaphragmatic hernia	2/8	OMIM:619656
4087	SMAD2	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
4087	SMAD2	HP:0030799	Scaphocephaly	-	OMIM:121050
4087	SMAD2	HP:0003199	Decreased muscle mass	-	OMIM:154700
4087	SMAD2	HP:0003196	Short nose	1/3	OMIM:619657
4087	SMAD2	HP:0000926	Platyspondyly	1/7	OMIM:615777
4087	SMAD2	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
4087	SMAD2	HP:0003180	Flat acetabular roof	-	OMIM:615777
4087	SMAD2	HP:0004482	Relative macrocephaly	-	OMIM:615777
4087	SMAD2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4087	SMAD2	HP:0000883	Thin ribs	-	OMIM:182212
4087	SMAD2	HP:0000822	Hypertension	-	OMIM:208050
4087	SMAD2	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
4087	SMAD2	HP:0000823	Delayed puberty	-	OMIM:131300
4087	SMAD2	HP:0011579	Unbalanced atrioventricular canal defect	3/5	OMIM:619657
4087	SMAD2	HP:0011560	Mitral atresia	1/5	OMIM:619657
4087	SMAD2	HP:0000895	Lateral clavicle hook	-	OMIM:182212
4087	SMAD2	HP:0000894	Short clavicles	-	OMIM:615777
4087	SMAD2	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
4087	SMAD2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4087	SMAD2	HP:0034391	Elbow contracture	10/14	OMIM:121050
4087	SMAD2	HP:0003273	Hip contracture	32/121	OMIM:121050
4087	SMAD2	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
4087	SMAD2	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
4087	SMAD2	HP:0000978	Bruising susceptibility	-	OMIM:208050
4087	SMAD2	HP:0000978	Bruising susceptibility	5/9	OMIM:619656
4087	SMAD2	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:60030
4087	SMAD2	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0000977	Soft skin	7/15	OMIM:208050
4087	SMAD2	HP:0000977	Soft skin	0/4	OMIM:619656
4087	SMAD2	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
4087	SMAD2	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
4087	SMAD2	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
4087	SMAD2	HP:0000973	Cutis laxa	5/14	OMIM:208050
4087	SMAD2	HP:0000987	Atypical scarring of skin	HP:0040282	ORPHA:60030
4087	SMAD2	HP:0000954	Single transverse palmar crease	1/2	OMIM:619657
4087	SMAD2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4087	SMAD2	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
4087	SMAD2	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:60030
4087	SMAD2	HP:0000963	Thin skin	4/13	OMIM:208050
4087	SMAD2	HP:0000963	Thin skin	HP:0040283	ORPHA:60030
4087	SMAD2	HP:0000938	Osteopenia	-	OMIM:121050
4087	SMAD2	HP:0000938	Osteopenia	-	OMIM:182212
4087	SMAD2	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
4087	SMAD2	HP:0011669	Left superior vena cava draining directly to the left atrium	1/2	OMIM:619657
4087	SMAD2	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
4087	SMAD2	HP:0000286	Epicanthus	1/7	OMIM:615777
4087	SMAD2	HP:0025586	Hypertropia	8/573	OMIM:154700
4087	SMAD2	HP:0000280	Coarse facial features	2/7	OMIM:615777
4087	SMAD2	HP:0000278	Retrognathia	-	OMIM:154700
4087	SMAD2	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0000260	Wide anterior fontanel	-	OMIM:182212
4087	SMAD2	HP:0000275	Narrow face	-	OMIM:154700
4087	SMAD2	HP:0000276	Long face	14/14	OMIM:208050
4087	SMAD2	HP:0000276	Long face	1/1	OMIM:619656
4087	SMAD2	HP:0000276	Long face	1/4	OMIM:619657
4087	SMAD2	HP:0000276	Long face	-	OMIM:154700
4087	SMAD2	HP:0000272	Malar flattening	9/14	OMIM:208050
4087	SMAD2	HP:0000272	Malar flattening	HP:0040282	ORPHA:60030
4087	SMAD2	HP:0000272	Malar flattening	31/53	OMIM:154700
4087	SMAD2	HP:0000268	Dolichocephaly	-	OMIM:121050
4087	SMAD2	HP:0000268	Dolichocephaly	3/11	OMIM:619656
4087	SMAD2	HP:0000268	Dolichocephaly	36/53	OMIM:154700
4087	SMAD2	HP:0000268	Dolichocephaly	28/37	OMIM:182212
4087	SMAD2	HP:0005136	Mitral annular calcification	-	OMIM:154700
4087	SMAD2	HP:0005116	Arterial tortuosity	HP:0040281	ORPHA:60030
4087	SMAD2	HP:0005116	Arterial tortuosity	1/1	OMIM:619656
4087	SMAD2	HP:0005112	Abdominal aortic aneurysm	1/11	OMIM:619656
4087	SMAD2	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0002816	Genu recurvatum	-	OMIM:182212
4087	SMAD2	HP:0002816	Genu recurvatum	-	OMIM:154700
4087	SMAD2	HP:0002829	Arthralgia	7/11	OMIM:619656
4087	SMAD2	HP:0002827	Hip dislocation	3/7	OMIM:615777
4087	SMAD2	HP:0005086	Knee osteoarthritis	1/2	OMIM:619656
4087	SMAD2	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
4087	SMAD2	HP:0000244	Brachyturricephaly	-	OMIM:182212
4087	SMAD2	HP:0000238	Hydrocephalus	13/37	OMIM:182212
4087	SMAD2	HP:0000252	Microcephaly	-	OMIM:615777
4087	SMAD2	HP:0000252	Microcephaly	6/37	OMIM:182212
4087	SMAD2	HP:0033981	Vertebral artery tortuosity	0/2	OMIM:619656
4087	SMAD2	HP:0000248	Brachycephaly	-	OMIM:121050
4087	SMAD2	HP:0000218	High palate	6/16	OMIM:619656
4087	SMAD2	HP:0000218	High palate	2/3	OMIM:619657
4087	SMAD2	HP:0000218	High palate	34/53	OMIM:154700
4087	SMAD2	HP:0000218	High palate	30/102	OMIM:121050
4087	SMAD2	HP:0000218	High palate	5/13	OMIM:208050
4087	SMAD2	HP:0000218	High palate	30/37	OMIM:182212
4087	SMAD2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
4087	SMAD2	HP:0000233	Thin vermilion border	-	OMIM:130050
4087	SMAD2	HP:0030009	Cervical insufficiency	-	OMIM:130050
4087	SMAD2	HP:0031348	Dextrotransposition of the great arteries	3/5	OMIM:619657
4087	SMAD2	HP:0002857	Genu valgum	-	OMIM:131300
4087	SMAD2	HP:0002857	Genu valgum	4/37	OMIM:182212
4087	SMAD2	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
4087	SMAD2	HP:0001537	Umbilical hernia	-	OMIM:208050
4087	SMAD2	HP:0001537	Umbilical hernia	2/4	OMIM:619656
4087	SMAD2	HP:0001537	Umbilical hernia	13/37	OMIM:182212
4087	SMAD2	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:60030
4087	SMAD2	HP:0001533	Slender build	-	OMIM:131300
4087	SMAD2	HP:0031364	Ecchymosis	-	OMIM:130050
4087	SMAD2	HP:0001508	Failure to thrive	2/4	OMIM:619657
4087	SMAD2	HP:0001519	Disproportionate tall stature	-	OMIM:121050
4087	SMAD2	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
4087	SMAD2	HP:0001519	Disproportionate tall stature	1/4	OMIM:619656
4087	SMAD2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4087	SMAD2	HP:0007807	Optic nerve compression	-	OMIM:131300
4087	SMAD2	HP:0012393	Allergy	0/4	OMIM:619656
4087	SMAD2	HP:0007800	Increased axial length of the globe	-	OMIM:154700
4087	SMAD2	HP:0012385	Camptodactyly	86/110	OMIM:121050
4087	SMAD2	HP:0012385	Camptodactyly	0/4	OMIM:619656
4087	SMAD2	HP:0012385	Camptodactyly	19/53	OMIM:154700
4087	SMAD2	HP:0012385	Camptodactyly	24/37	OMIM:182212
4087	SMAD2	HP:0000387	Absent earlobe	-	OMIM:130050
4087	SMAD2	HP:0012368	Flat face	7/7	OMIM:615777
4087	SMAD2	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
4087	SMAD2	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
4087	SMAD2	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
4087	SMAD2	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
4087	SMAD2	HP:0001607	Subglottic stenosis	1/4	OMIM:619657
4087	SMAD2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4087	SMAD2	HP:0001601	Laryngomalacia	1/2	OMIM:619657
4087	SMAD2	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
4087	SMAD2	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
4087	SMAD2	HP:0006480	Premature loss of teeth	-	OMIM:130050
4087	SMAD2	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
4087	SMAD2	HP:0000365	Hearing impairment	10/67	OMIM:131300
4087	SMAD2	HP:0001695	Cardiac arrest	HP:0040283	ORPHA:60030
4087	SMAD2	HP:0000358	Posteriorly rotated ears	1/3	OMIM:619657
4087	SMAD2	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
4087	SMAD2	HP:0000369	Low-set ears	1/3	OMIM:619657
4087	SMAD2	HP:0000369	Low-set ears	32/37	OMIM:182212
4087	SMAD2	HP:0000343	Long philtrum	-	OMIM:208050
4087	SMAD2	HP:0000343	Long philtrum	1/7	OMIM:615777
4087	SMAD2	HP:0011001	Increased bone mineral density	-	OMIM:131300
4087	SMAD2	HP:0000337	Broad forehead	1/3	OMIM:619657
4087	SMAD2	HP:0002999	Patellar dislocation	2/20	OMIM:121050
4087	SMAD2	HP:0000347	Micrognathia	1/3	OMIM:619657
4087	SMAD2	HP:0000347	Micrognathia	-	OMIM:154700
4087	SMAD2	HP:0000347	Micrognathia	26/94	OMIM:121050
4087	SMAD2	HP:0000347	Micrognathia	5/14	OMIM:208050
4087	SMAD2	HP:0000347	Micrognathia	HP:0040282	ORPHA:60030
4087	SMAD2	HP:0000347	Micrognathia	33/37	OMIM:182212
4087	SMAD2	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
4087	SMAD2	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
4087	SMAD2	HP:0001651	Dextrocardia	3/5	OMIM:619657
4087	SMAD2	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
4087	SMAD2	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
4087	SMAD2	HP:0001647	Bicuspid aortic valve	1/1	OMIM:619656
4087	SMAD2	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0000316	Hypertelorism	4/14	OMIM:619656
4087	SMAD2	HP:0000316	Hypertelorism	6/16	OMIM:208050
4087	SMAD2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:60030
4087	SMAD2	HP:0000316	Hypertelorism	28/37	OMIM:182212
4087	SMAD2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
4087	SMAD2	HP:0001643	Patent ductus arteriosus	2/2	OMIM:619657
4087	SMAD2	HP:0001643	Patent ductus arteriosus	HP:0040281	ORPHA:60030
4087	SMAD2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0000311	Round face	2/7	OMIM:615777
4087	SMAD2	HP:0001642	Pulmonic stenosis	2/2	OMIM:619657
4087	SMAD2	HP:0001660	Truncus arteriosus	1/1	OMIM:619657
4087	SMAD2	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
4087	SMAD2	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
4087	SMAD2	HP:0001659	Aortic regurgitation	-	OMIM:208050
4087	SMAD2	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
4087	SMAD2	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
4087	SMAD2	HP:0001653	Mitral regurgitation	-	OMIM:121050
4087	SMAD2	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
4087	SMAD2	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:60030
4087	SMAD2	HP:0002960	Autoimmunity	0/4	OMIM:619656
4087	SMAD2	HP:0001629	Ventricular septal defect	-	OMIM:121050
4087	SMAD2	HP:0001629	Ventricular septal defect	3/5	OMIM:619657
4087	SMAD2	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
4087	SMAD2	HP:0002970	Genu varum	-	OMIM:615777
4087	SMAD2	HP:0001635	Congestive heart failure	-	OMIM:154700
4087	SMAD2	HP:0001631	Atrial septal defect	-	OMIM:121050
4087	SMAD2	HP:0001631	Atrial septal defect	5/5	OMIM:619657
4087	SMAD2	HP:0000303	Mandibular prognathia	-	OMIM:131300
4087	SMAD2	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
4087	SMAD2	HP:0001634	Mitral valve prolapse	-	OMIM:130050
4087	SMAD2	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
4087	SMAD2	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
4087	SMAD2	HP:0005302	Carotid artery tortuosity	0/2	OMIM:619656
4087	SMAD2	HP:0005301	Persistent left superior vena cava	1/5	OMIM:619657
4087	SMAD2	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
4087	SMAD2	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
4087	SMAD2	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
4087	SMAD2	HP:0006687	Aortic tortuosity	0/4	OMIM:619656
4087	SMAD2	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
4087	SMAD2	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
4087	SMAD2	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
4087	SMAD2	HP:0000400	Macrotia	7/15	OMIM:208050
4087	SMAD2	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
4087	SMAD2	HP:0001719	Double outlet right ventricle	4/5	OMIM:619657
4087	SMAD2	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
4087	SMAD2	HP:0001714	Ventricular hypertrophy	1/3	OMIM:619656
4087	SMAD2	HP:0005294	Arterial dissection	HP:0040281	ORPHA:60030
4087	SMAD2	HP:0005280	Depressed nasal bridge	1/3	OMIM:619657
4087	SMAD2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4087	SMAD2	HP:0000483	Astigmatism	3/53	OMIM:154700
4087	SMAD2	HP:0000483	Astigmatism	5/15	OMIM:208050
4087	SMAD2	HP:0000486	Strabismus	110/573	OMIM:154700
4087	SMAD2	HP:0000486	Strabismus	17/37	OMIM:182212
4087	SMAD2	HP:0000494	Downslanted palpebral fissures	2/10	OMIM:619656
4087	SMAD2	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
4087	SMAD2	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
4087	SMAD2	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
4087	SMAD2	HP:0000490	Deeply set eye	25/63	OMIM:154700
4087	SMAD2	HP:0000463	Anteverted nares	9/37	OMIM:182212
4087	SMAD2	HP:0031565	Abdominal situs ambiguus	1/3	OMIM:619657
4087	SMAD2	HP:0001786	Narrow foot	33/53	OMIM:154700
4087	SMAD2	HP:0000470	Short neck	-	OMIM:121050
4087	SMAD2	HP:0000470	Short neck	1/7	OMIM:615777
4087	SMAD2	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0001770	Toe syndactyly	1/2	OMIM:619657
4087	SMAD2	HP:0012432	Chronic fatigue	2/4	OMIM:619656
4087	SMAD2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4087	SMAD2	HP:0001763	Pes planus	3/10	OMIM:619656
4087	SMAD2	HP:0001763	Pes planus	HP:0040281	ORPHA:60030
4087	SMAD2	HP:0001763	Pes planus	27/53	OMIM:154700
4087	SMAD2	HP:0001763	Pes planus	1/7	OMIM:615777
4087	SMAD2	HP:0001763	Pes planus	-	OMIM:182212
4087	SMAD2	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
4087	SMAD2	HP:0001765	Hammertoe	-	OMIM:154700
4087	SMAD2	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
4087	SMAD2	HP:0000418	Narrow nasal ridge	-	OMIM:130050
4087	SMAD2	HP:0001746	Asplenia	1/4	OMIM:619657
4087	SMAD2	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
4087	SMAD2	HP:0001762	Talipes equinovarus	-	OMIM:130050
4087	SMAD2	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:60030
4087	SMAD2	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
4087	SMAD2	HP:0001761	Pes cavus	49/146	OMIM:154700
4087	SMAD2	HP:0000518	Cataract	118/199	OMIM:154700
4087	SMAD2	HP:0001840	Metatarsus adductus	-	OMIM:121050
4087	SMAD2	HP:0001840	Metatarsus adductus	-	OMIM:182212
4087	SMAD2	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
4087	SMAD2	HP:0001840	Metatarsus adductus	-	OMIM:615777
4087	SMAD2	HP:0001842	Foot acroosteolysis	-	OMIM:130050
4087	SMAD2	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
4087	SMAD2	HP:0000520	Proptosis	2/4	OMIM:131300
4087	SMAD2	HP:0000520	Proptosis	7/7	OMIM:615777
4087	SMAD2	HP:0000520	Proptosis	29/37	OMIM:182212
4087	SMAD2	HP:0000506	Telecanthus	-	OMIM:182212
4087	SMAD2	HP:0000508	Ptosis	16/37	OMIM:182212
4087	SMAD2	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
4087	SMAD2	HP:0000501	Glaucoma	29/625	OMIM:154700
4087	SMAD2	HP:0000581	Blepharophimosis	-	OMIM:208050
4087	SMAD2	HP:0000577	Exotropia	72/626	OMIM:154700
4087	SMAD2	HP:0000592	Blue sclerae	2/7	OMIM:615777
4087	SMAD2	HP:0000592	Blue sclerae	HP:0040282	ORPHA:60030
4087	SMAD2	HP:0000586	Shallow orbits	13/37	OMIM:182212
4087	SMAD2	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:60030
4087	SMAD2	HP:0000563	Keratoconus	-	OMIM:130050
4087	SMAD2	HP:0000563	Keratoconus	3/14	OMIM:208050
4087	SMAD2	HP:0011220	Prominent forehead	17/37	OMIM:182212
4087	SMAD2	HP:0000565	Esotropia	12/573	OMIM:154700
4087	SMAD2	HP:0000541	Retinal detachment	-	OMIM:154700
4087	SMAD2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4087	SMAD2	HP:0001883	Talipes	13/53	OMIM:154700
4087	SMAD2	HP:0012514	Lower limb pain	4/4	OMIM:131300
4087	SMAD2	HP:0000545	Myopia	-	OMIM:121050
4087	SMAD2	HP:0000545	Myopia	6/15	OMIM:208050
4087	SMAD2	HP:0000545	Myopia	HP:0040283	ORPHA:60030
4087	SMAD2	HP:0000545	Myopia	93/251	OMIM:154700
4087	SMAD2	HP:0000545	Myopia	9/37	OMIM:182212
4088	SMAD3	HP:0009901	Crumpled ear	90/119	OMIM:121050
4088	SMAD3	HP:0001181	Adducted thumb	42/90	OMIM:121050
4088	SMAD3	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0001166	Arachnodactyly	104/124	OMIM:121050
4088	SMAD3	HP:0001166	Arachnodactyly	124/197	OMIM:154700
4088	SMAD3	HP:0001166	Arachnodactyly	34/37	OMIM:182212
4088	SMAD3	HP:0001166	Arachnodactyly	6/15	OMIM:208050
4088	SMAD3	HP:0001166	Arachnodactyly	42/125	OMIM:613795
4088	SMAD3	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:60030
4088	SMAD3	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0410151	Eosinophilic infiltration of the esophagus	HP:0040283	ORPHA:60030
4088	SMAD3	HP:0410151	Eosinophilic infiltration of the esophagus	-	OMIM:613795
4088	SMAD3	HP:0010886	Osteochondritis dissecans	HP:0040283	ORPHA:284984
4088	SMAD3	HP:0010886	Osteochondritis dissecans	13/18	OMIM:613795
4088	SMAD3	HP:0003745	Sporadic	-	OMIM:182212
4088	SMAD3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
4088	SMAD3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4088	SMAD3	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
4088	SMAD3	HP:0001297	Stroke	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0001293	Cranial nerve compression	-	OMIM:131300
4088	SMAD3	HP:0001290	Generalized hypotonia	-	OMIM:208050
4088	SMAD3	HP:0001290	Generalized hypotonia	-	OMIM:182212
4088	SMAD3	HP:0001270	Motor delay	-	OMIM:121050
4088	SMAD3	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
4088	SMAD3	HP:0001252	Hypotonia	2/7	OMIM:615777
4088	SMAD3	HP:0001252	Hypotonia	26/37	OMIM:182212
4088	SMAD3	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
4088	SMAD3	HP:0001249	Intellectual disability	5/7	OMIM:615777
4088	SMAD3	HP:0001249	Intellectual disability	-	OMIM:182212
4088	SMAD3	HP:0001263	Global developmental delay	0/27	OMIM:613795
4088	SMAD3	HP:0001263	Global developmental delay	-	OMIM:615777
4088	SMAD3	HP:0001263	Global developmental delay	-	OMIM:182212
4088	SMAD3	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
4088	SMAD3	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
4088	SMAD3	HP:0002515	Waddling gait	54/102	OMIM:131300
4088	SMAD3	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
4088	SMAD3	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
4088	SMAD3	HP:0000098	Tall stature	-	OMIM:154700
4088	SMAD3	HP:0000098	Tall stature	HP:0040282	ORPHA:60030
4088	SMAD3	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0001377	Limited elbow extension	94/109	OMIM:121050
4088	SMAD3	HP:0001377	Limited elbow extension	29/199	OMIM:154700
4088	SMAD3	HP:0001371	Flexion contracture	-	OMIM:208050
4088	SMAD3	HP:0001371	Flexion contracture	-	OMIM:154700
4088	SMAD3	HP:0001373	Joint dislocation	HP:0040283	ORPHA:60030
4088	SMAD3	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:284984
4088	SMAD3	HP:0001382	Joint hypermobility	1/1	OMIM:130050
4088	SMAD3	HP:0001382	Joint hypermobility	12/14	OMIM:208050
4088	SMAD3	HP:0001382	Joint hypermobility	30/116	OMIM:613795
4088	SMAD3	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:60030
4088	SMAD3	HP:0001382	Joint hypermobility	11/53	OMIM:154700
4088	SMAD3	HP:0001382	Joint hypermobility	-	OMIM:615777
4088	SMAD3	HP:0001382	Joint hypermobility	31/47	OMIM:182212
4088	SMAD3	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0000023	Inguinal hernia	11/11	OMIM:130050
4088	SMAD3	HP:0000023	Inguinal hernia	8/15	OMIM:208050
4088	SMAD3	HP:0000023	Inguinal hernia	12/39	OMIM:613795
4088	SMAD3	HP:0000023	Inguinal hernia	19/34	OMIM:182212
4088	SMAD3	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0001363	Craniosynostosis	1/58	OMIM:613795
4088	SMAD3	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:60030
4088	SMAD3	HP:0001363	Craniosynostosis	-	ORPHA:284984
4088	SMAD3	HP:0001363	Craniosynostosis	18/37	OMIM:182212
4088	SMAD3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4088	SMAD3	HP:0000028	Cryptorchidism	1/1	OMIM:130050
4088	SMAD3	HP:0000028	Cryptorchidism	1/13	OMIM:182212
4088	SMAD3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4088	SMAD3	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
4088	SMAD3	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
4088	SMAD3	HP:0008843	Hip osteoarthritis	4/26	OMIM:613795
4088	SMAD3	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
4088	SMAD3	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
4088	SMAD3	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
4088	SMAD3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4088	SMAD3	HP:0001324	Muscle weakness	40/96	OMIM:131300
4088	SMAD3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4088	SMAD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
4088	SMAD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4088	SMAD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
4088	SMAD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
4088	SMAD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
4088	SMAD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4088	SMAD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:613795
4088	SMAD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
4088	SMAD3	HP:0002650	Scoliosis	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0002650	Scoliosis	16/53	OMIM:154700
4088	SMAD3	HP:0002650	Scoliosis	11/15	OMIM:121050
4088	SMAD3	HP:0002650	Scoliosis	12/14	OMIM:131300
4088	SMAD3	HP:0002650	Scoliosis	3/15	OMIM:208050
4088	SMAD3	HP:0002650	Scoliosis	103/199	OMIM:613795
4088	SMAD3	HP:0002650	Scoliosis	HP:0040282	ORPHA:60030
4088	SMAD3	HP:0002650	Scoliosis	23/37	OMIM:182212
4088	SMAD3	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0002647	Aortic dissection	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0002647	Aortic dissection	1/58	OMIM:154700
4088	SMAD3	HP:0002647	Aortic dissection	12/32	OMIM:613795
4088	SMAD3	HP:0002647	Aortic dissection	HP:0040281	ORPHA:60030
4088	SMAD3	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4088	SMAD3	HP:0002619	Varicose veins	-	OMIM:130050
4088	SMAD3	HP:0002619	Varicose veins	51/91	OMIM:613795
4088	SMAD3	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
4088	SMAD3	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
4088	SMAD3	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
4088	SMAD3	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0002617	Vascular dilatation	HP:0040281	ORPHA:284984
4088	SMAD3	HP:0002617	Vascular dilatation	HP:0040281	ORPHA:60030
4088	SMAD3	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
4088	SMAD3	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
4088	SMAD3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4088	SMAD3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4088	SMAD3	HP:0000189	Narrow palate	-	OMIM:182212
4088	SMAD3	HP:0000189	Narrow palate	-	OMIM:154700
4088	SMAD3	HP:0025487	Abnormal bladder morphology	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0000193	Bifid uvula	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4088	SMAD3	HP:0000193	Bifid uvula	0/14	OMIM:208050
4088	SMAD3	HP:0000193	Bifid uvula	14/46	OMIM:613795
4088	SMAD3	HP:0000193	Bifid uvula	HP:0040282	ORPHA:60030
4088	SMAD3	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
4088	SMAD3	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0012151	Hemothorax	3/4	OMIM:130050
4088	SMAD3	HP:0000175	Cleft palate	HP:0040284	ORPHA:284984
4088	SMAD3	HP:0000175	Cleft palate	0/8	OMIM:613795
4088	SMAD3	HP:0000175	Cleft palate	HP:0040282	ORPHA:60030
4088	SMAD3	HP:0000175	Cleft palate	2/7	OMIM:615777
4088	SMAD3	HP:0000139	Uterine prolapse	-	OMIM:130050
4088	SMAD3	HP:0000139	Uterine prolapse	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0000139	Uterine prolapse	16/27	OMIM:613795
4088	SMAD3	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
4088	SMAD3	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
4088	SMAD3	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
4088	SMAD3	HP:0002758	Osteoarthritis	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0002758	Osteoarthritis	33/63	OMIM:613795
4088	SMAD3	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
4088	SMAD3	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
4088	SMAD3	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
4088	SMAD3	HP:0002036	Hiatus hernia	-	OMIM:208050
4088	SMAD3	HP:0002007	Frontal bossing	-	OMIM:121050
4088	SMAD3	HP:0002007	Frontal bossing	-	OMIM:182212
4088	SMAD3	HP:0003302	Spondylolisthesis	HP:0040283	ORPHA:284984
4088	SMAD3	HP:0003302	Spondylolisthesis	-	OMIM:154700
4088	SMAD3	HP:0003302	Spondylolisthesis	19/61	OMIM:613795
4088	SMAD3	HP:0002099	Asthma	HP:0040282	ORPHA:60030
4088	SMAD3	HP:0002097	Emphysema	8/9	OMIM:130050
4088	SMAD3	HP:0002097	Emphysema	HP:0040283	OMIM:154700
4088	SMAD3	HP:0002076	Migraine	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0002076	Migraine	15/30	OMIM:613795
4088	SMAD3	HP:0030961	Microspherophakia	2/53	OMIM:154700
4088	SMAD3	HP:0003388	Easy fatigability	36/76	OMIM:131300
4088	SMAD3	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
4088	SMAD3	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
4088	SMAD3	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
4088	SMAD3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4088	SMAD3	HP:0010499	Patellar subluxation	12/22	OMIM:121050
4088	SMAD3	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
4088	SMAD3	HP:0002140	Ischemic stroke	-	OMIM:208050
4088	SMAD3	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0002138	Subarachnoid hemorrhage	4/42	OMIM:613795
4088	SMAD3	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
4088	SMAD3	HP:0002108	Spontaneous pneumothorax	HP:0040283	ORPHA:60030
4088	SMAD3	HP:0002108	Spontaneous pneumothorax	2/20	OMIM:613795
4088	SMAD3	HP:0002107	Pneumothorax	2/2	OMIM:130050
4088	SMAD3	HP:0002107	Pneumothorax	6/53	OMIM:154700
4088	SMAD3	HP:0002107	Pneumothorax	1/29	OMIM:613795
4088	SMAD3	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0002105	Hemoptysis	6/10	OMIM:130050
4088	SMAD3	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
4088	SMAD3	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:60030
4088	SMAD3	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:284984
4088	SMAD3	HP:0003593	Infantile onset	5/16	OMIM:208050
4088	SMAD3	HP:0003577	Congenital onset	5/5	OMIM:121050
4088	SMAD3	HP:0003577	Congenital onset	12/26	OMIM:208050
4088	SMAD3	HP:0100718	Uterine rupture	-	OMIM:130050
4088	SMAD3	HP:0100718	Uterine rupture	HP:0040281	ORPHA:60030
4088	SMAD3	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
4088	SMAD3	HP:0004872	Incisional hernia	-	OMIM:154700
4088	SMAD3	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
4088	SMAD3	HP:0100775	Dural ectasia	HP:0040283	ORPHA:284984
4088	SMAD3	HP:0100775	Dural ectasia	112/140	OMIM:154700
4088	SMAD3	HP:0100775	Dural ectasia	11/18	OMIM:613795
4088	SMAD3	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0100749	Chest pain	1/2	OMIM:130050
4088	SMAD3	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
4088	SMAD3	HP:0002293	Alopecia of scalp	-	OMIM:130050
4088	SMAD3	HP:0034671	Knee contracture	7/14	OMIM:121050
4088	SMAD3	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
4088	SMAD3	HP:0010648	Dermal translucency	3/3	OMIM:130050
4088	SMAD3	HP:0010648	Dermal translucency	12/48	OMIM:613795
4088	SMAD3	HP:0010646	Cervical spine instability	1/22	OMIM:613795
4088	SMAD3	HP:0003510	Severe short stature	7/7	OMIM:615777
4088	SMAD3	HP:0007099	Chiari type I malformation	-	OMIM:182212
4088	SMAD3	HP:0025019	Arterial rupture	-	OMIM:130050
4088	SMAD3	HP:0001065	Striae distensae	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0001065	Striae distensae	11/53	OMIM:154700
4088	SMAD3	HP:0001065	Striae distensae	48/135	OMIM:613795
4088	SMAD3	HP:0001065	Striae distensae	HP:0040282	ORPHA:60030
4088	SMAD3	HP:0001030	Fragile skin	-	OMIM:130050
4088	SMAD3	HP:0001027	Soft, doughy skin	-	OMIM:208050
4088	SMAD3	HP:0002315	Headache	-	OMIM:131300
4088	SMAD3	HP:0002315	Headache	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0004976	Knee dislocation	6/7	OMIM:615777
4088	SMAD3	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0100645	Cystocele	-	OMIM:130050
4088	SMAD3	HP:0100645	Cystocele	2/17	OMIM:613795
4088	SMAD3	HP:0001073	Cigarette-paper scars	-	OMIM:130050
4088	SMAD3	HP:0001075	Atrophic scars	9/44	OMIM:613795
4088	SMAD3	HP:0009803	Short phalanx of finger	-	OMIM:615777
4088	SMAD3	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
4088	SMAD3	HP:0001083	Ectopia lentis	119/251	OMIM:154700
4088	SMAD3	HP:0001083	Ectopia lentis	0/49	OMIM:613795
4088	SMAD3	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
4088	SMAD3	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
4088	SMAD3	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
4088	SMAD3	HP:0009763	Limb pain	63/92	OMIM:131300
4088	SMAD3	HP:0008419	Intervertebral disk degeneration	HP:0040283	ORPHA:284984
4088	SMAD3	HP:0008419	Intervertebral disk degeneration	94/128	OMIM:613795
4088	SMAD3	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
4088	SMAD3	HP:0003623	Neonatal onset	3/16	OMIM:208050
4088	SMAD3	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
4088	SMAD3	HP:0004938	Tortuous cerebral arteries	8/16	OMIM:613795
4088	SMAD3	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
4088	SMAD3	HP:0004933	Ascending aortic dissection	13/42	OMIM:613795
4088	SMAD3	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
4088	SMAD3	HP:0003621	Juvenile onset	-	OMIM:131300
4088	SMAD3	HP:0003621	Juvenile onset	2/16	OMIM:208050
4088	SMAD3	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
4088	SMAD3	HP:0004944	Dilatation of the cerebral artery	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0004944	Dilatation of the cerebral artery	8/27	OMIM:613795
4088	SMAD3	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
4088	SMAD3	HP:0004942	Aortic aneurysm	67/109	OMIM:613795
4088	SMAD3	HP:0004942	Aortic aneurysm	HP:0040281	ORPHA:60030
4088	SMAD3	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
4088	SMAD3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4088	SMAD3	HP:0004268	Osteoarthritis of the small joints of the hand	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4088	SMAD3	HP:6001056	Out-toeing	-	OMIM:131300
4088	SMAD3	HP:0000651	Diplopia	-	OMIM:131300
4088	SMAD3	HP:0001977	Abnormal thrombosis	-	OMIM:208050
4088	SMAD3	HP:0001956	Truncal obesity	2/7	OMIM:615777
4088	SMAD3	HP:0001903	Anemia	1/1	OMIM:130050
4088	SMAD3	HP:0001903	Anemia	HP:0040283	OMIM:131300
4088	SMAD3	HP:0010049	Short metacarpal	-	OMIM:615777
4088	SMAD3	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
4088	SMAD3	HP:0000678	Dental crowding	8/53	OMIM:154700
4088	SMAD3	HP:0000678	Dental crowding	-	OMIM:615777
4088	SMAD3	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0000689	Dental malocclusion	-	OMIM:182212
4088	SMAD3	HP:0000689	Dental malocclusion	8/23	OMIM:613795
4088	SMAD3	HP:0000670	Carious teeth	-	OMIM:131300
4088	SMAD3	HP:0011304	Broad thumb	2/7	OMIM:615777
4088	SMAD3	HP:0000668	Hypodontia	-	OMIM:615777
4088	SMAD3	HP:0000664	Synophrys	-	OMIM:615777
4088	SMAD3	HP:0004322	Short stature	-	OMIM:130050
4088	SMAD3	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
4088	SMAD3	HP:0003088	Premature osteoarthritis	-	OMIM:154700
4088	SMAD3	HP:0003083	Dislocated radial head	5/37	OMIM:182212
4088	SMAD3	HP:0003066	Limited knee extension	38/45	OMIM:121050
4088	SMAD3	HP:0004396	Poor appetite	-	OMIM:131300
4088	SMAD3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4088	SMAD3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4088	SMAD3	HP:0003042	Elbow dislocation	1/12	OMIM:121050
4088	SMAD3	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
4088	SMAD3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4088	SMAD3	HP:0003026	Short long bone	7/7	OMIM:615777
4088	SMAD3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4088	SMAD3	HP:0005684	Distal arthrogryposis	-	OMIM:121050
4088	SMAD3	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
4088	SMAD3	HP:0000767	Pectus excavatum	2/14	OMIM:121050
4088	SMAD3	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:284984
4088	SMAD3	HP:0000767	Pectus excavatum	1/4	OMIM:130050
4088	SMAD3	HP:0000767	Pectus excavatum	3/15	OMIM:208050
4088	SMAD3	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:60030
4088	SMAD3	HP:0000767	Pectus excavatum	44/146	OMIM:154700
4088	SMAD3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4088	SMAD3	HP:0000767	Pectus excavatum	-	OMIM:182212
4088	SMAD3	HP:0000766	Abnormal sternum morphology	21/72	OMIM:613795
4088	SMAD3	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0000768	Pectus carinatum	4/14	OMIM:121050
4088	SMAD3	HP:0000768	Pectus carinatum	2/15	OMIM:208050
4088	SMAD3	HP:0000768	Pectus carinatum	1/8	OMIM:613795
4088	SMAD3	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:60030
4088	SMAD3	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:284984
4088	SMAD3	HP:0000768	Pectus carinatum	58/146	OMIM:154700
4088	SMAD3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4088	SMAD3	HP:0000768	Pectus carinatum	-	OMIM:182212
4088	SMAD3	HP:0012727	Thoracic aortic aneurysm	28/39	OMIM:613795
4088	SMAD3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4088	SMAD3	HP:0000750	Delayed speech and language development	-	OMIM:615777
4088	SMAD3	HP:0000704	Periodontitis	-	OMIM:130050
4088	SMAD3	HP:0011463	Childhood onset	1/16	OMIM:208050
4088	SMAD3	HP:0011462	Young adult onset	3/16	OMIM:208050
4088	SMAD3	HP:0011461	Fetal onset	7/7	OMIM:615777
4088	SMAD3	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
4088	SMAD3	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
4088	SMAD3	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
4088	SMAD3	HP:0000774	Narrow chest	2/7	OMIM:615777
4088	SMAD3	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
4088	SMAD3	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
4088	SMAD3	HP:0030799	Scaphocephaly	-	OMIM:121050
4088	SMAD3	HP:0003199	Decreased muscle mass	-	OMIM:154700
4088	SMAD3	HP:0000926	Platyspondyly	1/7	OMIM:615777
4088	SMAD3	HP:0003179	Protrusio acetabuli	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
4088	SMAD3	HP:0003179	Protrusio acetabuli	14/40	OMIM:613795
4088	SMAD3	HP:0003180	Flat acetabular roof	-	OMIM:615777
4088	SMAD3	HP:0004482	Relative macrocephaly	-	OMIM:615777
4088	SMAD3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4088	SMAD3	HP:0000883	Thin ribs	-	OMIM:182212
4088	SMAD3	HP:0000822	Hypertension	-	OMIM:208050
4088	SMAD3	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
4088	SMAD3	HP:0000823	Delayed puberty	-	OMIM:131300
4088	SMAD3	HP:0000895	Lateral clavicle hook	-	OMIM:182212
4088	SMAD3	HP:0000894	Short clavicles	-	OMIM:615777
4088	SMAD3	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
4088	SMAD3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4088	SMAD3	HP:0034391	Elbow contracture	10/14	OMIM:121050
4088	SMAD3	HP:0003273	Hip contracture	32/121	OMIM:121050
4088	SMAD3	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
4088	SMAD3	HP:0011645	Dilatation of the sinus of Valsalva	HP:0040281	ORPHA:284984
4088	SMAD3	HP:0011645	Dilatation of the sinus of Valsalva	8/42	OMIM:613795
4088	SMAD3	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
4088	SMAD3	HP:0000978	Bruising susceptibility	-	OMIM:208050
4088	SMAD3	HP:0000978	Bruising susceptibility	26/78	OMIM:613795
4088	SMAD3	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:60030
4088	SMAD3	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0000977	Soft skin	7/15	OMIM:208050
4088	SMAD3	HP:0000977	Soft skin	60/111	OMIM:613795
4088	SMAD3	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
4088	SMAD3	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
4088	SMAD3	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
4088	SMAD3	HP:0000973	Cutis laxa	5/14	OMIM:208050
4088	SMAD3	HP:0000987	Atypical scarring of skin	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0000987	Atypical scarring of skin	HP:0040282	ORPHA:60030
4088	SMAD3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4088	SMAD3	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
4088	SMAD3	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:60030
4088	SMAD3	HP:0000963	Thin skin	4/13	OMIM:208050
4088	SMAD3	HP:0000963	Thin skin	HP:0040283	ORPHA:60030
4088	SMAD3	HP:0000939	Osteoporosis	0/9	OMIM:613795
4088	SMAD3	HP:0000939	Osteoporosis	HP:0040284	ORPHA:284984
4088	SMAD3	HP:0000938	Osteopenia	-	OMIM:121050
4088	SMAD3	HP:0000938	Osteopenia	5/9	OMIM:613795
4088	SMAD3	HP:0000938	Osteopenia	-	OMIM:182212
4088	SMAD3	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
4088	SMAD3	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
4088	SMAD3	HP:0000286	Epicanthus	1/7	OMIM:615777
4088	SMAD3	HP:0025586	Hypertropia	8/573	OMIM:154700
4088	SMAD3	HP:0000280	Coarse facial features	2/7	OMIM:615777
4088	SMAD3	HP:0000278	Retrognathia	6/29	OMIM:613795
4088	SMAD3	HP:0000278	Retrognathia	HP:0040283	ORPHA:284984
4088	SMAD3	HP:0000278	Retrognathia	-	OMIM:154700
4088	SMAD3	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0000260	Wide anterior fontanel	-	OMIM:182212
4088	SMAD3	HP:0000275	Narrow face	-	OMIM:154700
4088	SMAD3	HP:0000276	Long face	14/14	OMIM:208050
4088	SMAD3	HP:0000276	Long face	11/18	OMIM:613795
4088	SMAD3	HP:0000276	Long face	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0000276	Long face	-	OMIM:154700
4088	SMAD3	HP:0000272	Malar flattening	9/14	OMIM:208050
4088	SMAD3	HP:0000272	Malar flattening	17/49	OMIM:613795
4088	SMAD3	HP:0000272	Malar flattening	HP:0040282	ORPHA:60030
4088	SMAD3	HP:0000272	Malar flattening	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0000272	Malar flattening	31/53	OMIM:154700
4088	SMAD3	HP:0000268	Dolichocephaly	-	OMIM:121050
4088	SMAD3	HP:0000268	Dolichocephaly	9/28	OMIM:613795
4088	SMAD3	HP:0000268	Dolichocephaly	36/53	OMIM:154700
4088	SMAD3	HP:0000268	Dolichocephaly	28/37	OMIM:182212
4088	SMAD3	HP:0005136	Mitral annular calcification	-	OMIM:154700
4088	SMAD3	HP:0005116	Arterial tortuosity	HP:0040281	ORPHA:60030
4088	SMAD3	HP:0005116	Arterial tortuosity	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0005116	Arterial tortuosity	11/26	OMIM:613795
4088	SMAD3	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:284984
4088	SMAD3	HP:0005112	Abdominal aortic aneurysm	13/151	OMIM:613795
4088	SMAD3	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:284984
4088	SMAD3	HP:0005110	Atrial fibrillation	16/66	OMIM:613795
4088	SMAD3	HP:0002816	Genu recurvatum	-	OMIM:182212
4088	SMAD3	HP:0002816	Genu recurvatum	-	OMIM:154700
4088	SMAD3	HP:0002827	Hip dislocation	3/7	OMIM:615777
4088	SMAD3	HP:0005086	Knee osteoarthritis	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0005086	Knee osteoarthritis	13/26	OMIM:613795
4088	SMAD3	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
4088	SMAD3	HP:0000244	Brachyturricephaly	-	OMIM:182212
4088	SMAD3	HP:0000238	Hydrocephalus	13/37	OMIM:182212
4088	SMAD3	HP:0000252	Microcephaly	-	OMIM:615777
4088	SMAD3	HP:0000252	Microcephaly	6/37	OMIM:182212
4088	SMAD3	HP:0000248	Brachycephaly	-	OMIM:121050
4088	SMAD3	HP:0000218	High palate	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0000218	High palate	34/53	OMIM:154700
4088	SMAD3	HP:0000218	High palate	30/102	OMIM:121050
4088	SMAD3	HP:0000218	High palate	5/13	OMIM:208050
4088	SMAD3	HP:0000218	High palate	12/28	OMIM:613795
4088	SMAD3	HP:0000218	High palate	30/37	OMIM:182212
4088	SMAD3	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
4088	SMAD3	HP:0000233	Thin vermilion border	-	OMIM:130050
4088	SMAD3	HP:0030009	Cervical insufficiency	-	OMIM:130050
4088	SMAD3	HP:0002857	Genu valgum	-	OMIM:131300
4088	SMAD3	HP:0002857	Genu valgum	4/37	OMIM:182212
4088	SMAD3	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
4088	SMAD3	HP:0001537	Umbilical hernia	-	OMIM:208050
4088	SMAD3	HP:0001537	Umbilical hernia	12/39	OMIM:613795
4088	SMAD3	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0001537	Umbilical hernia	13/37	OMIM:182212
4088	SMAD3	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:60030
4088	SMAD3	HP:0001533	Slender build	-	OMIM:131300
4088	SMAD3	HP:0031364	Ecchymosis	-	OMIM:130050
4088	SMAD3	HP:0001519	Disproportionate tall stature	HP:0040283	ORPHA:284984
4088	SMAD3	HP:0001519	Disproportionate tall stature	-	OMIM:121050
4088	SMAD3	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
4088	SMAD3	HP:0001519	Disproportionate tall stature	15/52	OMIM:613795
4088	SMAD3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4088	SMAD3	HP:0007807	Optic nerve compression	-	OMIM:131300
4088	SMAD3	HP:0007800	Increased axial length of the globe	-	OMIM:154700
4088	SMAD3	HP:0012385	Camptodactyly	86/110	OMIM:121050
4088	SMAD3	HP:0012385	Camptodactyly	13/106	OMIM:613795
4088	SMAD3	HP:0012385	Camptodactyly	19/53	OMIM:154700
4088	SMAD3	HP:0012385	Camptodactyly	24/37	OMIM:182212
4088	SMAD3	HP:0000387	Absent earlobe	-	OMIM:130050
4088	SMAD3	HP:0012368	Flat face	7/7	OMIM:615777
4088	SMAD3	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
4088	SMAD3	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
4088	SMAD3	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
4088	SMAD3	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
4088	SMAD3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4088	SMAD3	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
4088	SMAD3	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
4088	SMAD3	HP:0006480	Premature loss of teeth	-	OMIM:130050
4088	SMAD3	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
4088	SMAD3	HP:0000365	Hearing impairment	10/67	OMIM:131300
4088	SMAD3	HP:0001695	Cardiac arrest	HP:0040283	ORPHA:60030
4088	SMAD3	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
4088	SMAD3	HP:0000369	Low-set ears	32/37	OMIM:182212
4088	SMAD3	HP:0001699	Sudden death	16/57	OMIM:613795
4088	SMAD3	HP:0000343	Long philtrum	-	OMIM:208050
4088	SMAD3	HP:0000343	Long philtrum	1/7	OMIM:615777
4088	SMAD3	HP:0011001	Increased bone mineral density	-	OMIM:131300
4088	SMAD3	HP:0002999	Patellar dislocation	2/20	OMIM:121050
4088	SMAD3	HP:0000348	High forehead	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0000347	Micrognathia	-	OMIM:154700
4088	SMAD3	HP:0000347	Micrognathia	26/94	OMIM:121050
4088	SMAD3	HP:0000347	Micrognathia	5/14	OMIM:208050
4088	SMAD3	HP:0000347	Micrognathia	HP:0040282	ORPHA:60030
4088	SMAD3	HP:0000347	Micrognathia	33/37	OMIM:182212
4088	SMAD3	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
4088	SMAD3	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
4088	SMAD3	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
4088	SMAD3	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
4088	SMAD3	HP:0001647	Bicuspid aortic valve	1/33	OMIM:613795
4088	SMAD3	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0000316	Hypertelorism	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0000316	Hypertelorism	6/16	OMIM:208050
4088	SMAD3	HP:0000316	Hypertelorism	36/130	OMIM:613795
4088	SMAD3	HP:0000316	Hypertelorism	HP:0040282	ORPHA:60030
4088	SMAD3	HP:0000316	Hypertelorism	28/37	OMIM:182212
4088	SMAD3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
4088	SMAD3	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:284984
4088	SMAD3	HP:0001643	Patent ductus arteriosus	1/33	OMIM:613795
4088	SMAD3	HP:0001643	Patent ductus arteriosus	HP:0040281	ORPHA:60030
4088	SMAD3	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0000311	Round face	2/7	OMIM:615777
4088	SMAD3	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:284984
4088	SMAD3	HP:0001642	Pulmonic stenosis	1/33	OMIM:613795
4088	SMAD3	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
4088	SMAD3	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
4088	SMAD3	HP:0001659	Aortic regurgitation	-	OMIM:208050
4088	SMAD3	HP:0001659	Aortic regurgitation	4/22	OMIM:613795
4088	SMAD3	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
4088	SMAD3	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
4088	SMAD3	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0001653	Mitral regurgitation	-	OMIM:121050
4088	SMAD3	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
4088	SMAD3	HP:0001653	Mitral regurgitation	-	OMIM:613795
4088	SMAD3	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:60030
4088	SMAD3	HP:0001629	Ventricular septal defect	-	OMIM:121050
4088	SMAD3	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:284984
4088	SMAD3	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
4088	SMAD3	HP:0002970	Genu varum	-	OMIM:615777
4088	SMAD3	HP:0001635	Congestive heart failure	-	OMIM:154700
4088	SMAD3	HP:0001631	Atrial septal defect	-	OMIM:121050
4088	SMAD3	HP:0001631	Atrial septal defect	1/33	OMIM:613795
4088	SMAD3	HP:0000303	Mandibular prognathia	-	OMIM:131300
4088	SMAD3	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
4088	SMAD3	HP:0001634	Mitral valve prolapse	-	OMIM:130050
4088	SMAD3	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
4088	SMAD3	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
4088	SMAD3	HP:0001634	Mitral valve prolapse	7/45	OMIM:613795
4088	SMAD3	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
4088	SMAD3	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
4088	SMAD3	HP:0012499	Descending aortic dissection	1/42	OMIM:613795
4088	SMAD3	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
4088	SMAD3	HP:0006687	Aortic tortuosity	25/77	OMIM:613795
4088	SMAD3	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
4088	SMAD3	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
4088	SMAD3	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
4088	SMAD3	HP:0000400	Macrotia	7/15	OMIM:208050
4088	SMAD3	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
4088	SMAD3	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:284984
4088	SMAD3	HP:0001712	Left ventricular hypertrophy	7/34	OMIM:613795
4088	SMAD3	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
4088	SMAD3	HP:0001714	Ventricular hypertrophy	6/33	OMIM:613795
4088	SMAD3	HP:0005294	Arterial dissection	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0005294	Arterial dissection	HP:0040281	ORPHA:60030
4088	SMAD3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4088	SMAD3	HP:0000483	Astigmatism	3/53	OMIM:154700
4088	SMAD3	HP:0000483	Astigmatism	5/15	OMIM:208050
4088	SMAD3	HP:0000486	Strabismus	110/573	OMIM:154700
4088	SMAD3	HP:0000486	Strabismus	17/37	OMIM:182212
4088	SMAD3	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
4088	SMAD3	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
4088	SMAD3	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
4088	SMAD3	HP:0000490	Deeply set eye	25/63	OMIM:154700
4088	SMAD3	HP:0000463	Anteverted nares	9/37	OMIM:182212
4088	SMAD3	HP:0001786	Narrow foot	33/53	OMIM:154700
4088	SMAD3	HP:0000470	Short neck	-	OMIM:121050
4088	SMAD3	HP:0000470	Short neck	1/7	OMIM:615777
4088	SMAD3	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0012432	Chronic fatigue	HP:0040282	ORPHA:284984
4088	SMAD3	HP:0012432	Chronic fatigue	22/56	OMIM:613795
4088	SMAD3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4088	SMAD3	HP:0001763	Pes planus	99/139	OMIM:613795
4088	SMAD3	HP:0001763	Pes planus	HP:0040281	ORPHA:60030
4088	SMAD3	HP:0001763	Pes planus	HP:0040281	ORPHA:284984
4088	SMAD3	HP:0001763	Pes planus	27/53	OMIM:154700
4088	SMAD3	HP:0001763	Pes planus	1/7	OMIM:615777
4088	SMAD3	HP:0001763	Pes planus	-	OMIM:182212
4088	SMAD3	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
4088	SMAD3	HP:0001765	Hammertoe	-	OMIM:154700
4088	SMAD3	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
4088	SMAD3	HP:0000418	Narrow nasal ridge	-	OMIM:130050
4088	SMAD3	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
4088	SMAD3	HP:0001762	Talipes equinovarus	-	OMIM:130050
4088	SMAD3	HP:0001762	Talipes equinovarus	4/31	OMIM:613795
4088	SMAD3	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:60030
4088	SMAD3	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
4088	SMAD3	HP:0001761	Pes cavus	49/146	OMIM:154700
4088	SMAD3	HP:0000518	Cataract	4/19	OMIM:613795
4088	SMAD3	HP:0000518	Cataract	118/199	OMIM:154700
4088	SMAD3	HP:0001840	Metatarsus adductus	-	OMIM:121050
4088	SMAD3	HP:0001840	Metatarsus adductus	-	OMIM:182212
4088	SMAD3	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
4088	SMAD3	HP:0001840	Metatarsus adductus	-	OMIM:615777
4088	SMAD3	HP:0001842	Foot acroosteolysis	-	OMIM:130050
4088	SMAD3	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
4088	SMAD3	HP:0000520	Proptosis	2/4	OMIM:131300
4088	SMAD3	HP:0000520	Proptosis	2/29	OMIM:613795
4088	SMAD3	HP:0000520	Proptosis	7/7	OMIM:615777
4088	SMAD3	HP:0000520	Proptosis	29/37	OMIM:182212
4088	SMAD3	HP:0000506	Telecanthus	-	OMIM:182212
4088	SMAD3	HP:0000508	Ptosis	16/37	OMIM:182212
4088	SMAD3	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
4088	SMAD3	HP:0000501	Glaucoma	29/625	OMIM:154700
4088	SMAD3	HP:0000581	Blepharophimosis	-	OMIM:208050
4088	SMAD3	HP:0000577	Exotropia	72/626	OMIM:154700
4088	SMAD3	HP:0000577	Exotropia	-	OMIM:613795
4088	SMAD3	HP:0000592	Blue sclerae	2/7	OMIM:615777
4088	SMAD3	HP:0000592	Blue sclerae	1/20	OMIM:613795
4088	SMAD3	HP:0000592	Blue sclerae	HP:0040282	ORPHA:60030
4088	SMAD3	HP:0000586	Shallow orbits	13/37	OMIM:182212
4088	SMAD3	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:60030
4088	SMAD3	HP:0000563	Keratoconus	-	OMIM:130050
4088	SMAD3	HP:0000563	Keratoconus	3/14	OMIM:208050
4088	SMAD3	HP:0011220	Prominent forehead	17/37	OMIM:182212
4088	SMAD3	HP:0000565	Esotropia	12/573	OMIM:154700
4088	SMAD3	HP:0000541	Retinal detachment	-	OMIM:154700
4088	SMAD3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4088	SMAD3	HP:0001883	Talipes	13/53	OMIM:154700
4088	SMAD3	HP:0012514	Lower limb pain	4/4	OMIM:131300
4088	SMAD3	HP:0000545	Myopia	-	OMIM:121050
4088	SMAD3	HP:0000545	Myopia	6/15	OMIM:208050
4088	SMAD3	HP:0000545	Myopia	HP:0040283	ORPHA:60030
4088	SMAD3	HP:0000545	Myopia	93/251	OMIM:154700
4088	SMAD3	HP:0000545	Myopia	9/37	OMIM:182212
4089	SMAD4	HP:0001156	Brachydactyly	1/1	OMIM:139210
4089	SMAD4	HP:0001156	Brachydactyly	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0008551	Microtia	2/11	OMIM:139210
4089	SMAD4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4089	SMAD4	HP:0002408	Cerebral arteriovenous malformation	HP:0040283	ORPHA:774
4089	SMAD4	HP:0002408	Cerebral arteriovenous malformation	3/25	OMIM:175050
4089	SMAD4	HP:0003720	Generalized muscle hypertrophy	12/12	OMIM:139210
4089	SMAD4	HP:0003712	Skeletal muscle hypertrophy	8/8	OMIM:139210
4089	SMAD4	HP:0003712	Skeletal muscle hypertrophy	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0001297	Stroke	3/25	OMIM:175050
4089	SMAD4	HP:0001297	Stroke	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0001293	Cranial nerve compression	-	OMIM:131300
4089	SMAD4	HP:0001276	Hypertonia	1/1	OMIM:139210
4089	SMAD4	HP:0001250	Seizure	HP:0040283	ORPHA:774
4089	SMAD4	HP:0001250	Seizure	-	OMIM:139210
4089	SMAD4	HP:0001252	Hypotonia	2/7	OMIM:615777
4089	SMAD4	HP:0001251	Ataxia	HP:0040283	OMIM:139210
4089	SMAD4	HP:0001249	Intellectual disability	-	OMIM:139210
4089	SMAD4	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0001249	Intellectual disability	5/7	OMIM:615777
4089	SMAD4	HP:0001263	Global developmental delay	10/12	OMIM:139210
4089	SMAD4	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0001263	Global developmental delay	-	OMIM:615777
4089	SMAD4	HP:0002576	Intussusception	HP:0040283	OMIM:174900
4089	SMAD4	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
4089	SMAD4	HP:0002573	Hematochezia	HP:0040282	ORPHA:329971
4089	SMAD4	HP:0002573	Hematochezia	-	OMIM:175050
4089	SMAD4	HP:0100896	Rectal polyposis	HP:0040282	ORPHA:329971
4089	SMAD4	HP:0100867	Duodenal stenosis	1/11	OMIM:139210
4089	SMAD4	HP:0002553	Highly arched eyebrow	1/1	OMIM:139210
4089	SMAD4	HP:0001217	Clubbing	HP:0040283	OMIM:174900
4089	SMAD4	HP:0001217	Clubbing	17/25	OMIM:175050
4089	SMAD4	HP:0002515	Waddling gait	54/102	OMIM:131300
4089	SMAD4	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0001399	Hepatic failure	HP:0040283	ORPHA:774
4089	SMAD4	HP:0001394	Cirrhosis	HP:0040283	ORPHA:774
4089	SMAD4	HP:0001376	Limitation of joint mobility	11/11	OMIM:139210
4089	SMAD4	HP:0000036	Abnormal penis morphology	HP:0040283	ORPHA:2588
4089	SMAD4	HP:0000039	Epispadias	HP:0040283	ORPHA:2588
4089	SMAD4	HP:0001387	Joint stiffness	9/9	OMIM:139210
4089	SMAD4	HP:0001387	Joint stiffness	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0001382	Joint hypermobility	-	OMIM:615777
4089	SMAD4	HP:0000047	Hypospadias	HP:0040283	ORPHA:2588
4089	SMAD4	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2588
4089	SMAD4	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0002684	Thickened calvaria	18/18	OMIM:139210
4089	SMAD4	HP:0025318	Ovarian carcinoma	HP:0040283	ORPHA:1333
4089	SMAD4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4089	SMAD4	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:2588
4089	SMAD4	HP:0000028	Cryptorchidism	2/5	OMIM:139210
4089	SMAD4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4089	SMAD4	HP:0008818	Large iliac wing	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0001328	Specific learning disability	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4089	SMAD4	HP:0001324	Muscle weakness	40/96	OMIM:131300
4089	SMAD4	HP:0001342	Cerebral hemorrhage	HP:0040283	ORPHA:774
4089	SMAD4	HP:0002672	Gastrointestinal carcinoma	5/20	OMIM:175050
4089	SMAD4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4089	SMAD4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4089	SMAD4	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
4089	SMAD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
4089	SMAD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4089	SMAD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:139210
4089	SMAD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:260350
4089	SMAD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:175050
4089	SMAD4	HP:0002650	Scoliosis	12/14	OMIM:131300
4089	SMAD4	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0002647	Aortic dissection	HP:0040284	OMIM:175050
4089	SMAD4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4089	SMAD4	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0002629	Gastrointestinal arteriovenous malformation	HP:0040283	ORPHA:774
4089	SMAD4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4089	SMAD4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4089	SMAD4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4089	SMAD4	HP:0000193	Bifid uvula	HP:0040283	ORPHA:2588
4089	SMAD4	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0000160	Narrow mouth	7/8	OMIM:139210
4089	SMAD4	HP:0000160	Narrow mouth	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0000159	Abnormal lip morphology	HP:0040282	ORPHA:2588
4089	SMAD4	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:2588
4089	SMAD4	HP:0000175	Cleft palate	1/8	OMIM:139210
4089	SMAD4	HP:0000175	Cleft palate	HP:0040283	ORPHA:2588
4089	SMAD4	HP:0000175	Cleft palate	2/7	OMIM:615777
4089	SMAD4	HP:0000135	Hypogonadism	HP:0040283	ORPHA:2588
4089	SMAD4	HP:0410067	Increased level of L-fucose in urine	-	OMIM:260350
4089	SMAD4	HP:0410030	Cleft lip	1/8	OMIM:139210
4089	SMAD4	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0001442	Typified by somatic mosaicism	-	OMIM:260350
4089	SMAD4	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:1333
4089	SMAD4	HP:0001409	Portal hypertension	HP:0040282	ORPHA:774
4089	SMAD4	HP:0002750	Delayed skeletal maturation	5/7	OMIM:139210
4089	SMAD4	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:1333
4089	SMAD4	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:1333
4089	SMAD4	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
4089	SMAD4	HP:0004691	2-3 toe syndactyly	-	OMIM:139210
4089	SMAD4	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
4089	SMAD4	HP:0002027	Abdominal pain	HP:0040281	ORPHA:1333
4089	SMAD4	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
4089	SMAD4	HP:0004621	Enlarged vertebral pedicles	10/10	OMIM:139210
4089	SMAD4	HP:0011800	Midface retrusion	8/8	OMIM:139210
4089	SMAD4	HP:0011800	Midface retrusion	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0100541	Femoral hernia	HP:0040283	ORPHA:2588
4089	SMAD4	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:774
4089	SMAD4	HP:0002093	Respiratory insufficiency	HP:0040283	OMIM:139210
4089	SMAD4	HP:0002076	Migraine	HP:0040282	ORPHA:774
4089	SMAD4	HP:0002040	Esophageal varix	HP:0040283	ORPHA:774
4089	SMAD4	HP:0002039	Anorexia	HP:0040281	ORPHA:1333
4089	SMAD4	HP:0003388	Easy fatigability	36/76	OMIM:131300
4089	SMAD4	HP:0009466	Radial deviation of finger	-	OMIM:139210
4089	SMAD4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4089	SMAD4	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:774
4089	SMAD4	HP:0100579	Mucosal telangiectasiae	HP:0040281	ORPHA:774
4089	SMAD4	HP:0100592	Peritoneal abscess	HP:0040283	ORPHA:1333
4089	SMAD4	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:2588
4089	SMAD4	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:774
4089	SMAD4	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0004784	Juvenile gastrointestinal polyposis	100%	OMIM:175050
4089	SMAD4	HP:0004783	Duodenal polyposis	HP:0040284	ORPHA:329971
4089	SMAD4	HP:0003457	EMG abnormality	HP:0040282	ORPHA:2588
4089	SMAD4	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0002105	Hemoptysis	HP:0040283	ORPHA:774
4089	SMAD4	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0003418	Back pain	HP:0040281	ORPHA:1333
4089	SMAD4	HP:0010579	Cone-shaped epiphysis	5/9	OMIM:139210
4089	SMAD4	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:774
4089	SMAD4	HP:0002254	Intermittent diarrhea	HP:0040283	ORPHA:1333
4089	SMAD4	HP:0003581	Adult onset	-	OMIM:260350
4089	SMAD4	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
4089	SMAD4	HP:0004894	Laryngotracheal stenosis	-	OMIM:139210
4089	SMAD4	HP:0003561	Birth length less than 3rd percentile	3/5	OMIM:139210
4089	SMAD4	HP:0002213	Fine hair	-	OMIM:139210
4089	SMAD4	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:774
4089	SMAD4	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
4089	SMAD4	HP:0100784	Peripheral arteriovenous fistula	HP:0040283	ORPHA:774
4089	SMAD4	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
4089	SMAD4	HP:0100761	Visceral angiomatosis	HP:0040282	ORPHA:774
4089	SMAD4	HP:0003510	Severe short stature	7/7	OMIM:615777
4089	SMAD4	HP:0003510	Severe short stature	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0001009	Telangiectasia	HP:0040281	ORPHA:774
4089	SMAD4	HP:0001009	Telangiectasia	14/20	OMIM:175050
4089	SMAD4	HP:0001017	Anemic pallor	HP:0040282	ORPHA:329971
4089	SMAD4	HP:0002315	Headache	-	OMIM:131300
4089	SMAD4	HP:0004976	Knee dislocation	6/7	OMIM:615777
4089	SMAD4	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:774
4089	SMAD4	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0100659	Abnormal cerebral vascular morphology	HP:0040283	ORPHA:774
4089	SMAD4	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:774
4089	SMAD4	HP:0001072	Thickened skin	19/21	OMIM:139210
4089	SMAD4	HP:0001072	Thickened skin	HP:0040282	ORPHA:2588
4089	SMAD4	HP:0009803	Short phalanx of finger	-	OMIM:615777
4089	SMAD4	HP:0008499	High hypermetropia	HP:0040282	ORPHA:2588
4089	SMAD4	HP:0032152	Keratosis pilaris	1/1	OMIM:139210
4089	SMAD4	HP:0009763	Limb pain	63/92	OMIM:131300
4089	SMAD4	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:774
4089	SMAD4	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
4089	SMAD4	HP:0003621	Juvenile onset	-	OMIM:131300
4089	SMAD4	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0004942	Aortic aneurysm	HP:0040283	OMIM:175050
4089	SMAD4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4089	SMAD4	HP:0004209	Clinodactyly of the 5th finger	1/11	OMIM:139210
4089	SMAD4	HP:0009088	Speech articulation difficulties	1/1	OMIM:139210
4089	SMAD4	HP:0004279	Short palm	12/12	OMIM:139210
4089	SMAD4	HP:0004279	Short palm	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4089	SMAD4	HP:6001056	Out-toeing	-	OMIM:131300
4089	SMAD4	HP:0000651	Diplopia	-	OMIM:131300
4089	SMAD4	HP:0001956	Truncal obesity	2/7	OMIM:615777
4089	SMAD4	HP:0001903	Anemia	HP:0040282	OMIM:174900
4089	SMAD4	HP:0001903	Anemia	-	OMIM:175050
4089	SMAD4	HP:0001903	Anemia	HP:0040282	ORPHA:774
4089	SMAD4	HP:0001903	Anemia	HP:0040283	OMIM:131300
4089	SMAD4	HP:0001903	Anemia	HP:0040282	ORPHA:329971
4089	SMAD4	HP:0010049	Short metacarpal	-	OMIM:615777
4089	SMAD4	HP:0000678	Dental crowding	-	OMIM:615777
4089	SMAD4	HP:0000670	Carious teeth	-	OMIM:131300
4089	SMAD4	HP:0011304	Broad thumb	2/7	OMIM:615777
4089	SMAD4	HP:0000668	Hypodontia	-	OMIM:615777
4089	SMAD4	HP:0000664	Synophrys	-	OMIM:615777
4089	SMAD4	HP:0004322	Short stature	9/11	OMIM:139210
4089	SMAD4	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:1333
4089	SMAD4	HP:0003003	Colon cancer	20%	OMIM:174900
4089	SMAD4	HP:0003003	Colon cancer	5/12	OMIM:608456
4089	SMAD4	HP:0003003	Colon cancer	HP:0040283	ORPHA:1333
4089	SMAD4	HP:0030690	Gingival cleft	HP:0040283	ORPHA:2588
4089	SMAD4	HP:0003073	Hypoalbuminemia	-	OMIM:174900
4089	SMAD4	HP:0004389	Intestinal pseudo-obstruction	HP:0040282	ORPHA:1333
4089	SMAD4	HP:0004396	Poor appetite	-	OMIM:131300
4089	SMAD4	HP:0004396	Poor appetite	HP:0040281	ORPHA:1333
4089	SMAD4	HP:0004394	Multiple gastric polyps	HP:0040283	ORPHA:329971
4089	SMAD4	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
4089	SMAD4	HP:0004390	Hamartomatous polyposis	-	OMIM:175050
4089	SMAD4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4089	SMAD4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4089	SMAD4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4089	SMAD4	HP:0003026	Short long bone	7/7	OMIM:615777
4089	SMAD4	HP:0003026	Short long bone	9/9	OMIM:139210
4089	SMAD4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4089	SMAD4	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:2588
4089	SMAD4	HP:0000752	Hyperactivity	2/12	OMIM:139210
4089	SMAD4	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4089	SMAD4	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4089	SMAD4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4089	SMAD4	HP:0100026	Arteriovenous malformation	HP:0040282	ORPHA:774
4089	SMAD4	HP:0000750	Delayed speech and language development	-	OMIM:615777
4089	SMAD4	HP:0000717	Autism	2/8	OMIM:139210
4089	SMAD4	HP:0000709	Psychosis	2/12	OMIM:139210
4089	SMAD4	HP:0000708	Atypical behavior	HP:0040283	ORPHA:2588
4089	SMAD4	HP:0011463	Childhood onset	1/1	OMIM:139210
4089	SMAD4	HP:0011461	Fetal onset	7/7	OMIM:615777
4089	SMAD4	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
4089	SMAD4	HP:0000774	Narrow chest	2/7	OMIM:615777
4089	SMAD4	HP:0004406	Spontaneous, recurrent epistaxis	HP:0040281	ORPHA:774
4089	SMAD4	HP:0000926	Platyspondyly	10/17	OMIM:139210
4089	SMAD4	HP:0000926	Platyspondyly	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0000926	Platyspondyly	1/7	OMIM:615777
4089	SMAD4	HP:0003172	Abnormal pubic bone morphology	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0003180	Flat acetabular roof	-	OMIM:615777
4089	SMAD4	HP:0004482	Relative macrocephaly	-	OMIM:615777
4089	SMAD4	HP:0004493	Craniofacial hyperostosis	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4089	SMAD4	HP:0000885	Broad ribs	4/8	OMIM:139210
4089	SMAD4	HP:0100333	Unilateral cleft lip	HP:0040283	ORPHA:2588
4089	SMAD4	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1333
4089	SMAD4	HP:0000826	Precocious puberty	HP:0040283	ORPHA:2588
4089	SMAD4	HP:0000822	Hypertension	2/8	OMIM:139210
4089	SMAD4	HP:0000822	Hypertension	HP:0040282	ORPHA:2588
4089	SMAD4	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
4089	SMAD4	HP:0000823	Delayed puberty	-	OMIM:131300
4089	SMAD4	HP:0000894	Short clavicles	-	OMIM:615777
4089	SMAD4	HP:0003241	External genital hypoplasia	HP:0040283	ORPHA:2588
4089	SMAD4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4089	SMAD4	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4089	SMAD4	HP:0000952	Jaundice	HP:0040282	ORPHA:1333
4089	SMAD4	HP:0000969	Edema	HP:0040283	ORPHA:329971
4089	SMAD4	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
4089	SMAD4	HP:0000960	Sacral dimple	1/11	OMIM:139210
4089	SMAD4	HP:0045025	Narrow palpebral fissure	18/19	OMIM:139210
4089	SMAD4	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:2588
4089	SMAD4	HP:0008070	Sparse hair	-	OMIM:139210
4089	SMAD4	HP:0009381	Short finger	-	OMIM:139210
4089	SMAD4	HP:0000286	Epicanthus	1/7	OMIM:615777
4089	SMAD4	HP:0000280	Coarse facial features	2/7	OMIM:615777
4089	SMAD4	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0000256	Macrocephaly	2/8	OMIM:139210
4089	SMAD4	HP:0000272	Malar flattening	-	OMIM:139210
4089	SMAD4	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0007763	Retinal telangiectasia	HP:0040283	ORPHA:774
4089	SMAD4	HP:0002827	Hip dislocation	3/7	OMIM:615777
4089	SMAD4	HP:0002808	Kyphosis	1/1	OMIM:139210
4089	SMAD4	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:1333
4089	SMAD4	HP:0000252	Microcephaly	-	OMIM:139210
4089	SMAD4	HP:0000252	Microcephaly	-	OMIM:615777
4089	SMAD4	HP:0000220	Velopharyngeal insufficiency	3/11	OMIM:139210
4089	SMAD4	HP:0000219	Thin upper lip vermilion	17/18	OMIM:139210
4089	SMAD4	HP:0002878	Respiratory failure	HP:0040283	OMIM:139210
4089	SMAD4	HP:0000214	Lip telangiectasia	HP:0040281	ORPHA:774
4089	SMAD4	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
4089	SMAD4	HP:0002894	Neoplasm of the pancreas	-	OMIM:260350
4089	SMAD4	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0000227	Tongue telangiectasia	HP:0040281	ORPHA:774
4089	SMAD4	HP:0002861	Melanoma	HP:0040283	ORPHA:1333
4089	SMAD4	HP:0002857	Genu valgum	-	OMIM:131300
4089	SMAD4	HP:0001533	Slender build	-	OMIM:131300
4089	SMAD4	HP:0002866	Hypoplastic iliac wing	8/8	OMIM:139210
4089	SMAD4	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
4089	SMAD4	HP:0001518	Small for gestational age	5/7	OMIM:139210
4089	SMAD4	HP:0030053	Stiff skin	6/8	OMIM:139210
4089	SMAD4	HP:0001511	Intrauterine growth retardation	-	OMIM:139210
4089	SMAD4	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4089	SMAD4	HP:0001510	Growth delay	HP:0040283	ORPHA:329971
4089	SMAD4	HP:0001513	Obesity	5/8	OMIM:139210
4089	SMAD4	HP:0007807	Optic nerve compression	-	OMIM:131300
4089	SMAD4	HP:0012385	Camptodactyly	-	OMIM:139210
4089	SMAD4	HP:0000385	Small earlobe	1/1	OMIM:139210
4089	SMAD4	HP:0012368	Flat face	7/7	OMIM:615777
4089	SMAD4	HP:0011025	Abnormal cardiovascular system physiology	HP:0040282	ORPHA:774
4089	SMAD4	HP:0006574	Hepatic arteriovenous malformation	HP:0040282	ORPHA:774
4089	SMAD4	HP:0006574	Hepatic arteriovenous malformation	6/25	OMIM:175050
4089	SMAD4	HP:0005249	Functional intestinal obstruction	HP:0040282	ORPHA:1333
4089	SMAD4	HP:0006548	Pulmonary arteriovenous malformation	HP:0040282	ORPHA:774
4089	SMAD4	HP:0006548	Pulmonary arteriovenous malformation	18/25	OMIM:175050
4089	SMAD4	HP:0005227	Adenomatous colonic polyposis	HP:0040282	ORPHA:329971
4089	SMAD4	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
4089	SMAD4	HP:0001608	Abnormality of the voice	-	OMIM:139210
4089	SMAD4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4089	SMAD4	HP:0002938	Lumbar hyperlordosis	1/1	OMIM:139210
4089	SMAD4	HP:0002948	Vertebral fusion	-	OMIM:139210
4089	SMAD4	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:1333
4089	SMAD4	HP:0002900	Hypokalemia	-	OMIM:174900
4089	SMAD4	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
4089	SMAD4	HP:0000365	Hearing impairment	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0000365	Hearing impairment	10/67	OMIM:131300
4089	SMAD4	HP:0000365	Hearing impairment	17/20	OMIM:139210
4089	SMAD4	HP:0012334	Extrahepatic cholestasis	HP:0040282	ORPHA:1333
4089	SMAD4	HP:0001698	Pericardial effusion	-	OMIM:139210
4089	SMAD4	HP:0000369	Low-set ears	-	OMIM:139210
4089	SMAD4	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:2588
4089	SMAD4	HP:0000343	Long philtrum	1/7	OMIM:615777
4089	SMAD4	HP:0011001	Increased bone mineral density	-	OMIM:131300
4089	SMAD4	HP:0001680	Coarctation of aorta	-	OMIM:139210
4089	SMAD4	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
4089	SMAD4	HP:0001650	Aortic valve stenosis	-	OMIM:139210
4089	SMAD4	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0000316	Hypertelorism	-	OMIM:139210
4089	SMAD4	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0001643	Patent ductus arteriosus	5/11	OMIM:139210
4089	SMAD4	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0000311	Round face	2/7	OMIM:615777
4089	SMAD4	HP:0001642	Pulmonic stenosis	2/11	OMIM:139210
4089	SMAD4	HP:0000327	Hypoplasia of the maxilla	-	OMIM:139210
4089	SMAD4	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
4089	SMAD4	HP:0000322	Short philtrum	19/19	OMIM:139210
4089	SMAD4	HP:0001653	Mitral regurgitation	HP:0040283	OMIM:175050
4089	SMAD4	HP:0001629	Ventricular septal defect	1/8	OMIM:139210
4089	SMAD4	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
4089	SMAD4	HP:0002970	Genu varum	-	OMIM:615777
4089	SMAD4	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:774
4089	SMAD4	HP:0001631	Atrial septal defect	1/8	OMIM:139210
4089	SMAD4	HP:0000303	Mandibular prognathia	-	OMIM:131300
4089	SMAD4	HP:0000303	Mandibular prognathia	20/20	OMIM:139210
4089	SMAD4	HP:0000303	Mandibular prognathia	HP:0040281	ORPHA:2588
4089	SMAD4	HP:0001634	Mitral valve prolapse	HP:0040283	OMIM:175050
4089	SMAD4	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
4089	SMAD4	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:1333
4089	SMAD4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4089	SMAD4	HP:0000486	Strabismus	3/11	OMIM:139210
4089	SMAD4	HP:0000490	Deeply set eye	-	OMIM:139210
4089	SMAD4	HP:0000470	Short neck	-	OMIM:139210
4089	SMAD4	HP:0000470	Short neck	1/7	OMIM:615777
4089	SMAD4	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0001773	Short foot	11/11	OMIM:139210
4089	SMAD4	HP:0030256	Small intestinal polyposis	HP:0040284	ORPHA:329971
4089	SMAD4	HP:0012432	Chronic fatigue	HP:0040281	ORPHA:1333
4089	SMAD4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4089	SMAD4	HP:0001763	Pes planus	1/7	OMIM:615777
4089	SMAD4	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
4089	SMAD4	HP:0000434	Nasal mucosa telangiectasia	HP:0040281	ORPHA:774
4089	SMAD4	HP:0000426	Prominent nasal bridge	-	OMIM:139210
4089	SMAD4	HP:0000421	Epistaxis	10/16	OMIM:175050
4089	SMAD4	HP:0000421	Epistaxis	HP:0040281	ORPHA:774
4089	SMAD4	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
4089	SMAD4	HP:0006725	Pancreatic adenocarcinoma	HP:0040280	ORPHA:1333
4089	SMAD4	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
4089	SMAD4	HP:0000518	Cataract	1/7	OMIM:139210
4089	SMAD4	HP:0000518	Cataract	HP:0040283	ORPHA:2588
4089	SMAD4	HP:0001845	Overlapping toe	-	OMIM:139210
4089	SMAD4	HP:0001840	Metatarsus adductus	-	OMIM:615777
4089	SMAD4	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
4089	SMAD4	HP:0000524	Conjunctival telangiectasia	HP:0040283	ORPHA:774
4089	SMAD4	HP:0000527	Long eyelashes	1/1	OMIM:139210
4089	SMAD4	HP:0000520	Proptosis	2/4	OMIM:131300
4089	SMAD4	HP:0000520	Proptosis	7/7	OMIM:615777
4089	SMAD4	HP:0001824	Weight loss	HP:0040281	ORPHA:1333
4089	SMAD4	HP:0000508	Ptosis	HP:0040282	ORPHA:2588
4089	SMAD4	HP:0001831	Short toe	-	OMIM:139210
4089	SMAD4	HP:0000581	Blepharophimosis	-	OMIM:139210
4089	SMAD4	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:2588
4089	SMAD4	HP:0000592	Blue sclerae	2/7	OMIM:615777
4089	SMAD4	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:329971
4089	SMAD4	HP:0000574	Thick eyebrow	-	OMIM:139210
4089	SMAD4	HP:0000568	Microphthalmia	HP:0040283	OMIM:139210
4089	SMAD4	HP:0000540	Hypermetropia	-	OMIM:139210
4089	SMAD4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4089	SMAD4	HP:0012514	Lower limb pain	4/4	OMIM:131300
4091	SMAD6	HP:0001363	Craniosynostosis	-	OMIM:617439
4091	SMAD6	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
4091	SMAD6	HP:0000006	Autosomal dominant inheritance	-	OMIM:617439
4091	SMAD6	HP:0000006	Autosomal dominant inheritance	-	OMIM:179300
4091	SMAD6	HP:0000006	Autosomal dominant inheritance	-	OMIM:614823
4091	SMAD6	HP:0003577	Congenital onset	1/1	OMIM:614823
4091	SMAD6	HP:0004963	Calcification of the aorta	1/2	OMIM:614823
4091	SMAD6	HP:0004962	Thoracic aorta calcification	HP:0040281	ORPHA:402075
4091	SMAD6	HP:0004933	Ascending aortic dissection	2/20	OMIM:614823
4091	SMAD6	HP:0004933	Ascending aortic dissection	HP:0040284	ORPHA:402075
4091	SMAD6	HP:0004942	Aortic aneurysm	5/20	OMIM:614823
4091	SMAD6	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
4091	SMAD6	HP:0004383	Hypoplastic left heart	HP:0040284	ORPHA:402075
4091	SMAD6	HP:0004380	Aortic valve calcification	HP:0040281	ORPHA:402075
4091	SMAD6	HP:0000750	Delayed speech and language development	-	OMIM:617439
4091	SMAD6	HP:0012758	Neurodevelopmental delay	-	OMIM:617439
4091	SMAD6	HP:0004467	Preauricular pit	-	OMIM:187500
4091	SMAD6	HP:0000822	Hypertension	HP:0040282	ORPHA:402075
4091	SMAD6	HP:4000158	Typified by high penetrance	-	OMIM:614823
4091	SMAD6	HP:0005113	Aortic arch aneurysm	HP:0040282	ORPHA:402075
4091	SMAD6	HP:0006394	Limited pronation/supination of forearm	-	OMIM:179300
4091	SMAD6	HP:0000337	Broad forehead	-	OMIM:187500
4091	SMAD6	HP:0001680	Coarctation of aorta	1/2	OMIM:614823
4091	SMAD6	HP:0001680	Coarctation of aorta	HP:0040281	ORPHA:402075
4091	SMAD6	HP:0001650	Aortic valve stenosis	5/22	OMIM:614823
4091	SMAD6	HP:0001650	Aortic valve stenosis	HP:0040281	ORPHA:402075
4091	SMAD6	HP:0001647	Bicuspid aortic valve	9/22	OMIM:614823
4091	SMAD6	HP:0001647	Bicuspid aortic valve	HP:0040280	ORPHA:402075
4091	SMAD6	HP:0001642	Pulmonic stenosis	1/20	OMIM:614823
4091	SMAD6	HP:0002974	Radioulnar synostosis	22/22	OMIM:179300
4091	SMAD6	HP:0030148	Heart murmur	HP:0040281	ORPHA:402075
4091	SMAD6	HP:0001659	Aortic regurgitation	4/20	OMIM:614823
4091	SMAD6	HP:0001659	Aortic regurgitation	HP:0040281	ORPHA:402075
4091	SMAD6	HP:0001653	Mitral regurgitation	4/40	OMIM:614823
4091	SMAD6	HP:0001655	Patent foramen ovale	2/20	OMIM:614823
4091	SMAD6	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
4091	SMAD6	HP:0006687	Aortic tortuosity	1/20	OMIM:614823
4091	SMAD6	HP:0011103	Abnormal left ventricular outflow tract morphology	HP:0040284	ORPHA:402075
4091	SMAD6	HP:0000520	Proptosis	-	OMIM:187500
4092	SMAD7	HP:0003003	Colon cancer	-	OMIM:612229
4093	SMAD9	HP:0003829	Typified by incomplete penetrance	-	OMIM:615342
4093	SMAD9	HP:0000006	Autosomal dominant inheritance	-	OMIM:615342
4093	SMAD9	HP:0002092	Pulmonary arterial hypertension	1/2	OMIM:615342
4093	SMAD9	HP:0003676	Progressive	-	OMIM:615342
4093	SMAD9	HP:0003621	Juvenile onset	1/1	OMIM:615342
4093	SMAD9	HP:0005317	Increased pulmonary vascular resistance	1/1	OMIM:615342
4093	SMAD9	HP:0031687	Abnormally loud pulmonic component of the second heart sound	1/2	OMIM:615342
4094	MAF	HP:0001182	Tapered finger	HP:0040282	ORPHA:1272
4094	MAF	HP:0001182	Tapered finger	HP:0040283	OMIM:601088
4094	MAF	HP:0001156	Brachydactyly	12/15	OMIM:601088
4094	MAF	HP:0001131	Corneal dystrophy	HP:0040283	ORPHA:1377
4094	MAF	HP:0001104	Macular hypoplasia	HP:0040283	OMIM:610202
4094	MAF	HP:0008551	Microtia	HP:0040282	ORPHA:1272
4094	MAF	HP:0008551	Microtia	HP:0040283	OMIM:601088
4094	MAF	HP:0001250	Seizure	8/10	OMIM:601088
4094	MAF	HP:0001250	Seizure	HP:0040282	ORPHA:1272
4094	MAF	HP:0001249	Intellectual disability	15/15	OMIM:601088
4094	MAF	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1272
4094	MAF	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1272
4094	MAF	HP:0000093	Proteinuria	HP:0040283	ORPHA:1272
4094	MAF	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:1272
4094	MAF	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:1272
4094	MAF	HP:0002680	J-shaped sella turcica	HP:0040283	ORPHA:1272
4094	MAF	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:1272
4094	MAF	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:1272
4094	MAF	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1272
4094	MAF	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:1272
4094	MAF	HP:0000006	Autosomal dominant inheritance	-	OMIM:610202
4094	MAF	HP:0000006	Autosomal dominant inheritance	-	OMIM:601088
4094	MAF	HP:0002650	Scoliosis	HP:0040283	ORPHA:1272
4094	MAF	HP:0000164	Abnormality of the dentition	6/15	OMIM:601088
4094	MAF	HP:0000160	Narrow mouth	HP:0040282	ORPHA:1272
4094	MAF	HP:0000160	Narrow mouth	10/15	OMIM:601088
4094	MAF	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:1272
4094	MAF	HP:0000175	Cleft palate	HP:0040282	ORPHA:1272
4094	MAF	HP:0008947	Floppy infant	HP:0040282	ORPHA:1272
4094	MAF	HP:0011800	Midface retrusion	15/15	OMIM:601088
4094	MAF	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1272
4094	MAF	HP:0002059	Cerebral atrophy	HP:0040283	OMIM:601088
4094	MAF	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:1272
4094	MAF	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:1272
4094	MAF	HP:0003577	Congenital onset	1/8	OMIM:610202
4094	MAF	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:1272
4094	MAF	HP:0002209	Sparse scalp hair	HP:0040283	OMIM:601088
4094	MAF	HP:0008404	Nail dystrophy	HP:0040283	OMIM:601088
4094	MAF	HP:0007099	Chiari type I malformation	HP:0040282	ORPHA:1272
4094	MAF	HP:0007099	Chiari type I malformation	HP:0040283	OMIM:601088
4094	MAF	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1272
4094	MAF	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1272
4094	MAF	HP:0003621	Juvenile onset	7/8	OMIM:610202
4094	MAF	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1272
4094	MAF	HP:0000639	Nystagmus	HP:0040283	ORPHA:1377
4094	MAF	HP:0000612	Iris coloboma	1/10	OMIM:610202
4094	MAF	HP:0000612	Iris coloboma	HP:0040283	ORPHA:1377
4094	MAF	HP:0011333	Asymmetric crying face	HP:0040282	ORPHA:1272
4094	MAF	HP:0000677	Oligodontia	HP:0040282	ORPHA:1272
4094	MAF	HP:0000659	Peters anomaly	1/10	OMIM:610202
4094	MAF	HP:0004322	Short stature	-	OMIM:601088
4094	MAF	HP:0004322	Short stature	HP:0040282	ORPHA:1272
4094	MAF	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:1272
4094	MAF	HP:0000767	Pectus excavatum	3/15	OMIM:601088
4094	MAF	HP:0000765	Abnormal thorax morphology	HP:0040283	ORPHA:1272
4094	MAF	HP:0012770	Reduced arm span	HP:0040283	ORPHA:1272
4094	MAF	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:1272
4094	MAF	HP:0003196	Short nose	HP:0040282	ORPHA:1272
4094	MAF	HP:0003196	Short nose	13/15	OMIM:601088
4094	MAF	HP:0003187	Breast hypoplasia	HP:0040283	ORPHA:1272
4094	MAF	HP:0004484	Craniofacial asymmetry	HP:0040283	OMIM:601088
4094	MAF	HP:0005815	Supernumerary ribs	HP:0040283	ORPHA:1272
4094	MAF	HP:0000289	Broad philtrum	-	OMIM:601088
4094	MAF	HP:0000270	Delayed cranial suture closure	HP:0040283	ORPHA:1272
4094	MAF	HP:0000270	Delayed cranial suture closure	HP:0040283	OMIM:601088
4094	MAF	HP:0000272	Malar flattening	-	OMIM:601088
4094	MAF	HP:0007780	Cortical pulverulent cataract	7/10	OMIM:610202
4094	MAF	HP:0000239	Large fontanelles	HP:0040282	ORPHA:1272
4094	MAF	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:1272
4094	MAF	HP:0000248	Brachycephaly	HP:0040282	ORPHA:1272
4094	MAF	HP:0000248	Brachycephaly	-	OMIM:601088
4094	MAF	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:1272
4094	MAF	HP:0000219	Thin upper lip vermilion	10/15	OMIM:601088
4094	MAF	HP:0012385	Camptodactyly	HP:0040282	ORPHA:1272
4094	MAF	HP:0012385	Camptodactyly	HP:0040283	OMIM:601088
4094	MAF	HP:0012368	Flat face	HP:0040281	ORPHA:1272
4094	MAF	HP:0012368	Flat face	-	OMIM:601088
4094	MAF	HP:0000365	Hearing impairment	15/15	OMIM:601088
4094	MAF	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1272
4094	MAF	HP:0000358	Posteriorly rotated ears	HP:0040283	OMIM:601088
4094	MAF	HP:0011003	High myopia	1/10	OMIM:610202
4094	MAF	HP:0001698	Pericardial effusion	HP:0040283	ORPHA:1272
4094	MAF	HP:0000369	Low-set ears	HP:0040282	ORPHA:1272
4094	MAF	HP:0000369	Low-set ears	-	OMIM:601088
4094	MAF	HP:0000343	Long philtrum	HP:0040282	ORPHA:1272
4094	MAF	HP:0000343	Long philtrum	11/15	OMIM:601088
4094	MAF	HP:0000348	High forehead	HP:0040282	ORPHA:1272
4094	MAF	HP:0000348	High forehead	11/15	OMIM:601088
4094	MAF	HP:0000319	Smooth philtrum	-	OMIM:601088
4094	MAF	HP:0000316	Hypertelorism	HP:0040282	ORPHA:1272
4094	MAF	HP:0000316	Hypertelorism	9/15	OMIM:601088
4094	MAF	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1272
4094	MAF	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:1272
4094	MAF	HP:0002974	Radioulnar synostosis	-	OMIM:601088
4094	MAF	HP:0000303	Mandibular prognathia	HP:0040283	OMIM:601088
4094	MAF	HP:0007957	Corneal opacity	1/10	OMIM:610202
4094	MAF	HP:0007957	Corneal opacity	HP:0040283	ORPHA:1377
4094	MAF	HP:0007976	Cerulean cataract	-	OMIM:610202
4094	MAF	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:1272
4094	MAF	HP:0000407	Sensorineural hearing impairment	-	OMIM:601088
4094	MAF	HP:0000402	Stenosis of the external auditory canal	HP:0040283	ORPHA:1272
4094	MAF	HP:0001701	Pericarditis	HP:0040283	ORPHA:1272
4094	MAF	HP:0001701	Pericarditis	6/15	OMIM:601088
4094	MAF	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1272
4094	MAF	HP:0005280	Depressed nasal bridge	11/15	OMIM:601088
4094	MAF	HP:0000485	Megalocornea	HP:0040283	ORPHA:1272
4094	MAF	HP:0000482	Microcornea	2/10	OMIM:610202
4094	MAF	HP:0000482	Microcornea	HP:0040281	ORPHA:1377
4094	MAF	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:1272
4094	MAF	HP:0000494	Downslanted palpebral fissures	HP:0040283	OMIM:601088
4094	MAF	HP:0000431	Wide nasal bridge	-	OMIM:601088
4094	MAF	HP:0005487	Prominent metopic ridge	HP:0040282	ORPHA:1272
4094	MAF	HP:0000518	Cataract	HP:0040282	ORPHA:1272
4094	MAF	HP:0000518	Cataract	HP:0040281	ORPHA:1377
4094	MAF	HP:0000519	Developmental cataract	HP:0040282	ORPHA:1272
4094	MAF	HP:0000519	Developmental cataract	14/15	OMIM:601088
4094	MAF	HP:0000527	Long eyelashes	HP:0040283	ORPHA:1272
4094	MAF	HP:0001838	Rocker bottom foot	HP:0040282	ORPHA:1272
4094	MAF	HP:0000508	Ptosis	-	OMIM:601088
4094	MAF	HP:0000505	Visual impairment	HP:0040282	ORPHA:1272
4094	MAF	HP:0000501	Glaucoma	HP:0040283	ORPHA:1272
4094	MAF	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:1272
4094	MAF	HP:0000582	Upslanted palpebral fissure	HP:0040283	OMIM:601088
4094	MAF	HP:0011229	Broad eyebrow	8/15	OMIM:601088
4094	MAF	HP:0000586	Shallow orbits	HP:0040282	ORPHA:1272
4094	MAF	HP:0000541	Retinal detachment	HP:0040283	OMIM:610202
4094	MAF	HP:0000545	Myopia	HP:0040282	ORPHA:1377
4099	MAG	HP:0002495	Impaired vibratory sensation	HP:0040281	ORPHA:459056
4099	MAG	HP:0002464	Spastic dysarthria	3/3	OMIM:616680
4099	MAG	HP:0007256	Abnormal pyramidal sign	3/3	OMIM:616680
4099	MAG	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:459056
4099	MAG	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:459056
4099	MAG	HP:0001272	Cerebellar atrophy	-	OMIM:616680
4099	MAG	HP:0001252	Hypotonia	3/3	OMIM:616680
4099	MAG	HP:0001249	Intellectual disability	HP:0040281	ORPHA:459056
4099	MAG	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:459056
4099	MAG	HP:0001260	Dysarthria	0/2	OMIM:616680
4099	MAG	HP:0001263	Global developmental delay	3/3	OMIM:616680
4099	MAG	HP:0001263	Global developmental delay	HP:0040281	ORPHA:459056
4099	MAG	HP:0001258	Spastic paraplegia	HP:0040281	ORPHA:459056
4099	MAG	HP:0001257	Spasticity	5/5	OMIM:616680
4099	MAG	HP:0001257	Spasticity	HP:0040281	ORPHA:459056
4099	MAG	HP:0007371	Corpus callosum atrophy	-	OMIM:616680
4099	MAG	HP:0002522	Areflexia of lower limbs	-	OMIM:616680
4099	MAG	HP:0002505	Loss of ambulation	2/3	OMIM:616680
4099	MAG	HP:0001347	Hyperreflexia	2/2	OMIM:616680
4099	MAG	HP:0000007	Autosomal recessive inheritance	-	OMIM:616680
4099	MAG	HP:0001310	Dysmetria	3/3	OMIM:616680
4099	MAG	HP:0001310	Dysmetria	HP:0040281	ORPHA:459056
4099	MAG	HP:0001319	Neonatal hypotonia	3/3	OMIM:616680
4099	MAG	HP:0002600	Hyporeflexia of lower limbs	-	OMIM:616680
4099	MAG	HP:0007663	Reduced visual acuity	3/3	OMIM:616680
4099	MAG	HP:0008944	Distal lower limb amyotrophy	3/3	OMIM:616680
4099	MAG	HP:0008944	Distal lower limb amyotrophy	HP:0040281	ORPHA:459056
4099	MAG	HP:0100543	Cognitive impairment	-	OMIM:616680
4099	MAG	HP:0002064	Spastic gait	2/2	OMIM:616680
4099	MAG	HP:0003487	Babinski sign	5/5	OMIM:616680
4099	MAG	HP:0003487	Babinski sign	HP:0040281	ORPHA:459056
4099	MAG	HP:0002119	Ventriculomegaly	HP:0040283	OMIM:616680
4099	MAG	HP:0003677	Slowly progressive	-	OMIM:616680
4099	MAG	HP:0002313	Spastic paraparesis	3/3	OMIM:616680
4099	MAG	HP:0009830	Peripheral neuropathy	-	OMIM:616680
4099	MAG	HP:0003623	Neonatal onset	3/3	OMIM:616680
4099	MAG	HP:0006886	Impaired distal vibration sensation	3/3	OMIM:616680
4099	MAG	HP:0000639	Nystagmus	5/5	OMIM:616680
4099	MAG	HP:0000639	Nystagmus	HP:0040282	ORPHA:459056
4099	MAG	HP:0000648	Optic atrophy	-	OMIM:616680
4099	MAG	HP:0011463	Childhood onset	2/2	OMIM:616680
4099	MAG	HP:0030187	Titubation	HP:0040283	ORPHA:459056
4099	MAG	HP:0000483	Astigmatism	3/3	OMIM:616680
4099	MAG	HP:0000483	Astigmatism	HP:0040282	ORPHA:459056
4099	MAG	HP:0000501	Glaucoma	1/3	OMIM:616680
4099	MAG	HP:0000540	Hypermetropia	3/3	OMIM:616680
4099	MAG	HP:0000540	Hypermetropia	HP:0040282	ORPHA:459056
4099	MAG	HP:0012511	Temporal optic disc pallor	HP:0040282	ORPHA:459056
4117	MAK	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
4117	MAK	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
4117	MAK	HP:0001123	Visual field defect	7/7	OMIM:614181
4117	MAK	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
4117	MAK	HP:0000007	Autosomal recessive inheritance	-	OMIM:614181
4117	MAK	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
4117	MAK	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
4117	MAK	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
4117	MAK	HP:0007663	Reduced visual acuity	8/8	OMIM:614181
4117	MAK	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
4117	MAK	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
4117	MAK	HP:0003596	Middle age onset	2/8	OMIM:614181
4117	MAK	HP:0003621	Juvenile onset	8/19	OMIM:180100
4117	MAK	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
4117	MAK	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
4117	MAK	HP:0000618	Blindness	HP:0040281	ORPHA:791
4117	MAK	HP:0000613	Photophobia	HP:0040281	ORPHA:791
4117	MAK	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
4117	MAK	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
4117	MAK	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
4117	MAK	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
4117	MAK	HP:0000662	Nyctalopia	7/8	OMIM:614181
4117	MAK	HP:0000662	Nyctalopia	26/28	OMIM:180100
4117	MAK	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
4117	MAK	HP:0011463	Childhood onset	3/19	OMIM:180100
4117	MAK	HP:0011462	Young adult onset	6/8	OMIM:614181
4117	MAK	HP:0011462	Young adult onset	8/19	OMIM:180100
4117	MAK	HP:0030786	Photopsia	HP:0040283	ORPHA:791
4117	MAK	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
4117	MAK	HP:0011504	Bull's eye maculopathy	1/8	OMIM:614181
4117	MAK	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
4117	MAK	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
4117	MAK	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
4117	MAK	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
4117	MAK	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
4117	MAK	HP:0007737	Bone spicule pigmentation of the retina	3/4	OMIM:614181
4117	MAK	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
4117	MAK	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
4117	MAK	HP:0007843	Attenuation of retinal blood vessels	4/8	OMIM:614181
4117	MAK	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
4117	MAK	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
4117	MAK	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
4117	MAK	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
4117	MAK	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
4117	MAK	HP:0000510	Rod-cone dystrophy	-	OMIM:614181
4117	MAK	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
4117	MAK	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
4117	MAK	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
4117	MAK	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
4117	MAK	HP:0000575	Scotoma	5/18	OMIM:180100
4117	MAK	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
4117	MAK	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
4117	MAK	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
4117	MAK	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
4117	MAK	HP:0000543	Optic disc pallor	2/8	OMIM:614181
4117	MAK	HP:0000543	Optic disc pallor	1/1	OMIM:180100
4117	MAK	HP:0000545	Myopia	-	OMIM:180100
4123	MAN2C1	HP:0002444	Hypothalamic hamartoma	2/5	OMIM:619775
4123	MAN2C1	HP:0008551	Microtia	2/5	OMIM:619775
4123	MAN2C1	HP:0001270	Motor delay	4/4	OMIM:619775
4123	MAN2C1	HP:0001252	Hypotonia	1/5	OMIM:619775
4123	MAN2C1	HP:0001249	Intellectual disability	3/4	OMIM:619775
4123	MAN2C1	HP:0002553	Highly arched eyebrow	2/5	OMIM:619775
4123	MAN2C1	HP:0032327	Interhemispheric cyst	1/5	OMIM:619775
4123	MAN2C1	HP:0033725	Thin corpus callosum	1/5	OMIM:619775
4123	MAN2C1	HP:0001338	Partial agenesis of the corpus callosum	3/5	OMIM:619775
4123	MAN2C1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619775
4123	MAN2C1	HP:0001320	Cerebellar vermis hypoplasia	4/5	OMIM:619775
4123	MAN2C1	HP:0000158	Macroglossia	1/5	OMIM:619775
4123	MAN2C1	HP:0002000	Short columella	2/5	OMIM:619775
4123	MAN2C1	HP:0002015	Dysphagia	1/5	OMIM:619775
4123	MAN2C1	HP:0011802	Hamartoma of tongue	2/6	OMIM:619775
4123	MAN2C1	HP:0009487	Ulnar deviation of the hand	1/5	OMIM:619775
4123	MAN2C1	HP:0002119	Ventriculomegaly	3/5	OMIM:619775
4123	MAN2C1	HP:0002126	Polymicrogyria	3/5	OMIM:619775
4123	MAN2C1	HP:0002282	Gray matter heterotopia	2/5	OMIM:619775
4123	MAN2C1	HP:0011304	Broad thumb	1/5	OMIM:619775
4123	MAN2C1	HP:0000750	Delayed speech and language development	4/4	OMIM:619775
4123	MAN2C1	HP:0012760	Reduced social responsiveness	3/4	OMIM:619775
4123	MAN2C1	HP:0000960	Sacral dimple	1/5	OMIM:619775
4123	MAN2C1	HP:0000256	Macrocephaly	2/6	OMIM:619775
4123	MAN2C1	HP:0002816	Genu recurvatum	1/5	OMIM:619775
4123	MAN2C1	HP:0000218	High palate	1/4	OMIM:619775
4123	MAN2C1	HP:0000365	Hearing impairment	1/4	OMIM:619775
4123	MAN2C1	HP:0000348	High forehead	2/4	OMIM:619775
4123	MAN2C1	HP:0000347	Micrognathia	5/6	OMIM:619775
4123	MAN2C1	HP:0000316	Hypertelorism	1/5	OMIM:619775
4123	MAN2C1	HP:0000324	Facial asymmetry	1/5	OMIM:619775
4123	MAN2C1	HP:0000480	Retinal coloboma	1/4	OMIM:619775
4123	MAN2C1	HP:0001776	Bilateral talipes equinovarus	1/4	OMIM:619775
4123	MAN2C1	HP:0001852	Sandal gap	1/5	OMIM:619775
4123	MAN2C1	HP:0011265	Cleft earlobe	1/5	OMIM:619775
4125	MAN2B1	HP:0007256	Abnormal pyramidal sign	-	OMIM:248500
4125	MAN2B1	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0007232	Spinocerebellar tract disease in lower limbs	-	OMIM:248500
4125	MAN2B1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4125	MAN2B1	HP:0001293	Cranial nerve compression	-	OMIM:131300
4125	MAN2B1	HP:0001290	Generalized hypotonia	-	OMIM:248500
4125	MAN2B1	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0001272	Cerebellar atrophy	8/13	OMIM:248500
4125	MAN2B1	HP:0001270	Motor delay	HP:0040282	ORPHA:309282
4125	MAN2B1	HP:0001289	Confusion	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0001289	Confusion	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:309282
4125	MAN2B1	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:309288
4125	MAN2B1	HP:0001252	Hypotonia	HP:0040282	ORPHA:309282
4125	MAN2B1	HP:0001252	Hypotonia	-	OMIM:248500
4125	MAN2B1	HP:0001252	Hypotonia	2/7	OMIM:615777
4125	MAN2B1	HP:0001251	Ataxia	HP:0040282	ORPHA:309282
4125	MAN2B1	HP:0001251	Ataxia	HP:0040282	ORPHA:309288
4125	MAN2B1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:309282
4125	MAN2B1	HP:0001249	Intellectual disability	-	OMIM:248500
4125	MAN2B1	HP:0001249	Intellectual disability	5/7	OMIM:615777
4125	MAN2B1	HP:0001260	Dysarthria	-	OMIM:248500
4125	MAN2B1	HP:0001263	Global developmental delay	-	OMIM:248500
4125	MAN2B1	HP:0001263	Global developmental delay	-	OMIM:615777
4125	MAN2B1	HP:0001258	Spastic paraplegia	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0001257	Spasticity	-	OMIM:248500
4125	MAN2B1	HP:0007371	Corpus callosum atrophy	3/13	OMIM:248500
4125	MAN2B1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0002515	Waddling gait	54/102	OMIM:131300
4125	MAN2B1	HP:0001387	Joint stiffness	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0001382	Joint hypermobility	-	OMIM:615777
4125	MAN2B1	HP:0000023	Inguinal hernia	-	OMIM:248500
4125	MAN2B1	HP:0002684	Thickened calvaria	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0002684	Thickened calvaria	-	OMIM:248500
4125	MAN2B1	HP:0002679	Abnormal sella turcica morphology	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0001347	Hyperreflexia	-	OMIM:248500
4125	MAN2B1	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4125	MAN2B1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4125	MAN2B1	HP:0008821	Hypoplastic inferior ilia	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0001328	Specific learning disability	HP:0040281	ORPHA:309282
4125	MAN2B1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4125	MAN2B1	HP:0001324	Muscle weakness	40/96	OMIM:131300
4125	MAN2B1	HP:0000010	Recurrent urinary tract infections	HP:0040284	ORPHA:309282
4125	MAN2B1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4125	MAN2B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4125	MAN2B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:248500
4125	MAN2B1	HP:0001334	Communicating hydrocephalus	HP:0040284	ORPHA:309282
4125	MAN2B1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4125	MAN2B1	HP:0002650	Scoliosis	12/14	OMIM:131300
4125	MAN2B1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4125	MAN2B1	HP:0031123	Recurrent gastroenteritis	HP:0040282	ORPHA:309282
4125	MAN2B1	HP:0031123	Recurrent gastroenteritis	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4125	MAN2B1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4125	MAN2B1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4125	MAN2B1	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0000158	Macroglossia	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000158	Macroglossia	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0000158	Macroglossia	-	OMIM:248500
4125	MAN2B1	HP:0000175	Cleft palate	2/7	OMIM:615777
4125	MAN2B1	HP:0002797	Osteolysis	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0025406	Asthenia	HP:0040282	ORPHA:309282
4125	MAN2B1	HP:0025406	Asthenia	HP:0040282	ORPHA:309288
4125	MAN2B1	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:309282
4125	MAN2B1	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0002719	Recurrent infections	HP:0040281	ORPHA:309282
4125	MAN2B1	HP:0002719	Recurrent infections	HP:0040282	ORPHA:309288
4125	MAN2B1	HP:0002718	Recurrent bacterial infections	-	OMIM:248500
4125	MAN2B1	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:309282
4125	MAN2B1	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0004684	Talipes valgus	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0002007	Frontal bossing	-	OMIM:248500
4125	MAN2B1	HP:0003302	Spondylolisthesis	-	OMIM:248500
4125	MAN2B1	HP:0011800	Midface retrusion	-	OMIM:248500
4125	MAN2B1	HP:0002090	Pneumonia	HP:0040282	ORPHA:309282
4125	MAN2B1	HP:0002090	Pneumonia	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0002066	Gait ataxia	-	OMIM:248500
4125	MAN2B1	HP:0002070	Limb ataxia	-	OMIM:248500
4125	MAN2B1	HP:0003388	Easy fatigability	36/76	OMIM:131300
4125	MAN2B1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4125	MAN2B1	HP:0010471	Oligosacchariduria	HP:0040281	ORPHA:309282
4125	MAN2B1	HP:0010471	Oligosacchariduria	HP:0040281	ORPHA:309288
4125	MAN2B1	HP:0003487	Babinski sign	-	OMIM:248500
4125	MAN2B1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0002120	Cerebral cortical atrophy	8/13	OMIM:248500
4125	MAN2B1	HP:0002171	Gliosis	-	OMIM:248500
4125	MAN2B1	HP:0011842	Abnormal skeletal morphology	HP:0040281	ORPHA:309282
4125	MAN2B1	HP:0002240	Hepatomegaly	-	OMIM:248500
4125	MAN2B1	HP:0002280	Enlarged cisterna magna	11/13	OMIM:248500
4125	MAN2B1	HP:0010665	Bilateral coxa valga	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0430022	Abnormality of the sphenoid sinus	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0003510	Severe short stature	7/7	OMIM:615777
4125	MAN2B1	HP:0002371	Loss of speech	HP:0040284	ORPHA:309282
4125	MAN2B1	HP:0002315	Headache	-	OMIM:131300
4125	MAN2B1	HP:0004976	Knee dislocation	6/7	OMIM:615777
4125	MAN2B1	HP:0002329	Drowsiness	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0002329	Drowsiness	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0009803	Short phalanx of finger	-	OMIM:615777
4125	MAN2B1	HP:0009763	Limb pain	63/92	OMIM:131300
4125	MAN2B1	HP:0002312	Clumsiness	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0002312	Clumsiness	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0002308	Chiari malformation	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0034712	Decreased circulating alpha-mannosidase activity	20/20	OMIM:248500
4125	MAN2B1	HP:0003621	Juvenile onset	-	OMIM:131300
4125	MAN2B1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4125	MAN2B1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4125	MAN2B1	HP:0000639	Nystagmus	-	OMIM:248500
4125	MAN2B1	HP:6001056	Out-toeing	-	OMIM:131300
4125	MAN2B1	HP:0000651	Diplopia	-	OMIM:131300
4125	MAN2B1	HP:0001956	Truncal obesity	2/7	OMIM:615777
4125	MAN2B1	HP:0001922	Vacuolated lymphocytes	-	OMIM:248500
4125	MAN2B1	HP:0001903	Anemia	HP:0040283	OMIM:131300
4125	MAN2B1	HP:0010049	Short metacarpal	-	OMIM:615777
4125	MAN2B1	HP:0011334	Facial shape deformation	HP:0040282	ORPHA:309282
4125	MAN2B1	HP:0000678	Dental crowding	-	OMIM:615777
4125	MAN2B1	HP:0000687	Widely spaced teeth	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000687	Widely spaced teeth	-	OMIM:248500
4125	MAN2B1	HP:0000670	Carious teeth	-	OMIM:131300
4125	MAN2B1	HP:0011304	Broad thumb	2/7	OMIM:615777
4125	MAN2B1	HP:0000668	Hypodontia	-	OMIM:615777
4125	MAN2B1	HP:0000664	Synophrys	-	OMIM:615777
4125	MAN2B1	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:248500
4125	MAN2B1	HP:0005619	Thoracolumbar kyphosis	-	OMIM:248500
4125	MAN2B1	HP:0004396	Poor appetite	-	OMIM:131300
4125	MAN2B1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4125	MAN2B1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4125	MAN2B1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4125	MAN2B1	HP:0003026	Short long bone	7/7	OMIM:615777
4125	MAN2B1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4125	MAN2B1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4125	MAN2B1	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000768	Pectus carinatum	-	OMIM:248500
4125	MAN2B1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4125	MAN2B1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4125	MAN2B1	HP:0000738	Hallucinations	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000738	Hallucinations	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0000739	Anxiety	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000739	Anxiety	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0000736	Short attention span	HP:0040282	ORPHA:309282
4125	MAN2B1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:309282
4125	MAN2B1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0000750	Delayed speech and language development	-	OMIM:615777
4125	MAN2B1	HP:0000746	Delusion	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000746	Delusion	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0000716	Depression	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000716	Depression	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0011461	Fetal onset	7/7	OMIM:615777
4125	MAN2B1	HP:0000774	Narrow chest	2/7	OMIM:615777
4125	MAN2B1	HP:0004437	Cranial hyperostosis	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0003198	Myopathy	HP:0040282	ORPHA:309282
4125	MAN2B1	HP:0000926	Platyspondyly	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000926	Platyspondyly	1/7	OMIM:615777
4125	MAN2B1	HP:0003180	Flat acetabular roof	-	OMIM:615777
4125	MAN2B1	HP:0000900	Thickened ribs	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0004482	Relative macrocephaly	-	OMIM:615777
4125	MAN2B1	HP:0005791	Cortical thickening of long bone diaphyses	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4125	MAN2B1	HP:0000823	Delayed puberty	-	OMIM:131300
4125	MAN2B1	HP:0000894	Short clavicles	-	OMIM:615777
4125	MAN2B1	HP:0004570	Increased vertebral height	-	OMIM:248500
4125	MAN2B1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4125	MAN2B1	HP:4000190	Reduced leukocyte alpha-mannosidase activity	-	OMIM:248500
4125	MAN2B1	HP:0000998	Hypertrichosis	-	OMIM:248500
4125	MAN2B1	HP:0000977	Soft skin	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4125	MAN2B1	HP:0000938	Osteopenia	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000938	Osteopenia	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0000943	Dysostosis multiplex	-	OMIM:248500
4125	MAN2B1	HP:0000943	Dysostosis multiplex	HP:0040281	ORPHA:309282
4125	MAN2B1	HP:0000286	Epicanthus	-	OMIM:248500
4125	MAN2B1	HP:0000286	Epicanthus	1/7	OMIM:615777
4125	MAN2B1	HP:0000280	Coarse facial features	HP:0040282	ORPHA:309282
4125	MAN2B1	HP:0000280	Coarse facial features	-	OMIM:248500
4125	MAN2B1	HP:0000280	Coarse facial features	2/7	OMIM:615777
4125	MAN2B1	HP:0000297	Facial hypotonia	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000294	Low anterior hairline	-	OMIM:248500
4125	MAN2B1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000256	Macrocephaly	-	OMIM:248500
4125	MAN2B1	HP:0000272	Malar flattening	-	OMIM:248500
4125	MAN2B1	HP:0007772	Impaired smooth pursuit	-	OMIM:248500
4125	MAN2B1	HP:0002827	Hip dislocation	3/7	OMIM:615777
4125	MAN2B1	HP:0000252	Microcephaly	-	OMIM:615777
4125	MAN2B1	HP:0000248	Brachycephaly	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0001547	Abnormal rib cage morphology	-	OMIM:248500
4125	MAN2B1	HP:0000212	Gingival overgrowth	-	OMIM:248500
4125	MAN2B1	HP:0002857	Genu valgum	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0002857	Genu valgum	-	OMIM:131300
4125	MAN2B1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0001533	Slender build	-	OMIM:131300
4125	MAN2B1	HP:0001519	Disproportionate tall stature	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4125	MAN2B1	HP:0001510	Growth delay	-	OMIM:248500
4125	MAN2B1	HP:0007807	Optic nerve compression	-	OMIM:131300
4125	MAN2B1	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:309282
4125	MAN2B1	HP:0012368	Flat face	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0012368	Flat face	7/7	OMIM:615777
4125	MAN2B1	HP:0000388	Otitis media	HP:0040281	ORPHA:309282
4125	MAN2B1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4125	MAN2B1	HP:0000365	Hearing impairment	10/67	OMIM:131300
4125	MAN2B1	HP:0000343	Long philtrum	1/7	OMIM:615777
4125	MAN2B1	HP:0011001	Increased bone mineral density	-	OMIM:131300
4125	MAN2B1	HP:0000337	Broad forehead	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000337	Broad forehead	-	OMIM:248500
4125	MAN2B1	HP:0002980	Femoral bowing	-	OMIM:248500
4125	MAN2B1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:309282
4125	MAN2B1	HP:0000311	Round face	2/7	OMIM:615777
4125	MAN2B1	HP:0001659	Aortic regurgitation	HP:0040284	ORPHA:309282
4125	MAN2B1	HP:0001659	Aortic regurgitation	HP:0040284	ORPHA:309288
4125	MAN2B1	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0002970	Genu varum	-	OMIM:615777
4125	MAN2B1	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000303	Mandibular prognathia	-	OMIM:131300
4125	MAN2B1	HP:0000303	Mandibular prognathia	-	OMIM:248500
4125	MAN2B1	HP:0007957	Corneal opacity	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0007957	Corneal opacity	HP:0040284	ORPHA:309288
4125	MAN2B1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000407	Sensorineural hearing impairment	-	OMIM:248500
4125	MAN2B1	HP:0000400	Macrotia	-	OMIM:248500
4125	MAN2B1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4125	MAN2B1	HP:0000483	Astigmatism	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000486	Strabismus	HP:0040282	ORPHA:309282
4125	MAN2B1	HP:0012448	Delayed myelination	-	OMIM:248500
4125	MAN2B1	HP:0000457	Depressed nasal ridge	-	OMIM:248500
4125	MAN2B1	HP:0000470	Short neck	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000470	Short neck	1/7	OMIM:615777
4125	MAN2B1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4125	MAN2B1	HP:0001763	Pes planus	1/7	OMIM:615777
4125	MAN2B1	HP:0001776	Bilateral talipes equinovarus	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000410	Mixed hearing impairment	HP:0040282	ORPHA:309282
4125	MAN2B1	HP:0000410	Mixed hearing impairment	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0001744	Splenomegaly	-	OMIM:248500
4125	MAN2B1	HP:0005469	Flat occiput	-	OMIM:248500
4125	MAN2B1	HP:0000518	Cataract	HP:0040282	ORPHA:309282
4125	MAN2B1	HP:0000518	Cataract	HP:0040283	ORPHA:309288
4125	MAN2B1	HP:0001840	Metatarsus adductus	-	OMIM:615777
4125	MAN2B1	HP:0000520	Proptosis	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000520	Proptosis	2/4	OMIM:131300
4125	MAN2B1	HP:0000520	Proptosis	7/7	OMIM:615777
4125	MAN2B1	HP:0000592	Blue sclerae	2/7	OMIM:615777
4125	MAN2B1	HP:0011220	Prominent forehead	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000574	Thick eyebrow	-	OMIM:248500
4125	MAN2B1	HP:0000540	Hypermetropia	HP:0040282	ORPHA:309282
4125	MAN2B1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4125	MAN2B1	HP:0012514	Lower limb pain	4/4	OMIM:131300
4125	MAN2B1	HP:0000546	Retinal degeneration	-	OMIM:248500
4125	MAN2B1	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0000543	Optic disc pallor	HP:0040284	ORPHA:309288
4125	MAN2B1	HP:0001876	Pancytopenia	HP:0040283	ORPHA:309282
4125	MAN2B1	HP:0001876	Pancytopenia	HP:0040284	ORPHA:309288
4125	MAN2B1	HP:0000545	Myopia	HP:0040282	ORPHA:309282
4125	MAN2B1	HP:0000545	Myopia	HP:0040283	ORPHA:309288
4126	MANBA	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4126	MANBA	HP:0001293	Cranial nerve compression	-	OMIM:131300
4126	MANBA	HP:0001290	Generalized hypotonia	-	OMIM:248510
4126	MANBA	HP:0001250	Seizure	HP:0040281	ORPHA:118
4126	MANBA	HP:0001250	Seizure	HP:0040283	OMIM:248510
4126	MANBA	HP:0001252	Hypotonia	-	OMIM:248510
4126	MANBA	HP:0001252	Hypotonia	2/7	OMIM:615777
4126	MANBA	HP:0001249	Intellectual disability	HP:0040281	ORPHA:118
4126	MANBA	HP:0001249	Intellectual disability	1/1	OMIM:248510
4126	MANBA	HP:0001249	Intellectual disability	5/7	OMIM:615777
4126	MANBA	HP:0001263	Global developmental delay	-	OMIM:615777
4126	MANBA	HP:0002515	Waddling gait	54/102	OMIM:131300
4126	MANBA	HP:0012066	Increased urinary disaccharide excretion	-	OMIM:248510
4126	MANBA	HP:0001382	Joint hypermobility	-	OMIM:615777
4126	MANBA	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4126	MANBA	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4126	MANBA	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4126	MANBA	HP:0001324	Muscle weakness	40/96	OMIM:131300
4126	MANBA	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4126	MANBA	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4126	MANBA	HP:0000007	Autosomal recessive inheritance	-	OMIM:248510
4126	MANBA	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4126	MANBA	HP:0002650	Scoliosis	12/14	OMIM:131300
4126	MANBA	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4126	MANBA	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4126	MANBA	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4126	MANBA	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4126	MANBA	HP:0000175	Cleft palate	2/7	OMIM:615777
4126	MANBA	HP:0002719	Recurrent infections	-	OMIM:248510
4126	MANBA	HP:0003388	Easy fatigability	36/76	OMIM:131300
4126	MANBA	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4126	MANBA	HP:0002167	Abnormal speech pattern	-	OMIM:248510
4126	MANBA	HP:0003593	Infantile onset	1/1	OMIM:248510
4126	MANBA	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:118
4126	MANBA	HP:0003510	Severe short stature	7/7	OMIM:615777
4126	MANBA	HP:0001014	Angiokeratoma	-	OMIM:248510
4126	MANBA	HP:0002315	Headache	-	OMIM:131300
4126	MANBA	HP:0004976	Knee dislocation	6/7	OMIM:615777
4126	MANBA	HP:0009803	Short phalanx of finger	-	OMIM:615777
4126	MANBA	HP:0009763	Limb pain	63/92	OMIM:131300
4126	MANBA	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	OMIM:248510
4126	MANBA	HP:0003621	Juvenile onset	-	OMIM:131300
4126	MANBA	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4126	MANBA	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4126	MANBA	HP:6001056	Out-toeing	-	OMIM:131300
4126	MANBA	HP:0000651	Diplopia	-	OMIM:131300
4126	MANBA	HP:0001956	Truncal obesity	2/7	OMIM:615777
4126	MANBA	HP:0001903	Anemia	HP:0040283	OMIM:131300
4126	MANBA	HP:0010049	Short metacarpal	-	OMIM:615777
4126	MANBA	HP:0000678	Dental crowding	-	OMIM:615777
4126	MANBA	HP:0000670	Carious teeth	-	OMIM:131300
4126	MANBA	HP:0011304	Broad thumb	2/7	OMIM:615777
4126	MANBA	HP:0000668	Hypodontia	-	OMIM:615777
4126	MANBA	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:118
4126	MANBA	HP:0001999	Abnormal facial shape	HP:0040283	OMIM:248510
4126	MANBA	HP:0000664	Synophrys	-	OMIM:615777
4126	MANBA	HP:0004396	Poor appetite	-	OMIM:131300
4126	MANBA	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4126	MANBA	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4126	MANBA	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4126	MANBA	HP:0003026	Short long bone	7/7	OMIM:615777
4126	MANBA	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4126	MANBA	HP:0000752	Hyperactivity	1/1	OMIM:248510
4126	MANBA	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4126	MANBA	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4126	MANBA	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4126	MANBA	HP:0000750	Delayed speech and language development	-	OMIM:615777
4126	MANBA	HP:0000718	Aggressive behavior	-	OMIM:248510
4126	MANBA	HP:0011461	Fetal onset	7/7	OMIM:615777
4126	MANBA	HP:0000774	Narrow chest	2/7	OMIM:615777
4126	MANBA	HP:4000205	Reduced tissue beta-mannosidase activity	1/1	OMIM:248510
4126	MANBA	HP:0000926	Platyspondyly	1/7	OMIM:615777
4126	MANBA	HP:0003180	Flat acetabular roof	-	OMIM:615777
4126	MANBA	HP:0004482	Relative macrocephaly	-	OMIM:615777
4126	MANBA	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4126	MANBA	HP:0000823	Delayed puberty	-	OMIM:131300
4126	MANBA	HP:0000894	Short clavicles	-	OMIM:615777
4126	MANBA	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4126	MANBA	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4126	MANBA	HP:0034367	Decreased circulating beta-mannosidase activity	1/1	OMIM:248510
4126	MANBA	HP:0000286	Epicanthus	1/7	OMIM:615777
4126	MANBA	HP:0000280	Coarse facial features	2/7	OMIM:615777
4126	MANBA	HP:0002827	Hip dislocation	3/7	OMIM:615777
4126	MANBA	HP:0000252	Microcephaly	-	OMIM:615777
4126	MANBA	HP:0002857	Genu valgum	-	OMIM:131300
4126	MANBA	HP:0001533	Slender build	-	OMIM:131300
4126	MANBA	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4126	MANBA	HP:0007807	Optic nerve compression	-	OMIM:131300
4126	MANBA	HP:0012368	Flat face	7/7	OMIM:615777
4126	MANBA	HP:0005247	Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:118
4126	MANBA	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4126	MANBA	HP:0000365	Hearing impairment	HP:0040281	ORPHA:118
4126	MANBA	HP:0000365	Hearing impairment	-	OMIM:248510
4126	MANBA	HP:0000365	Hearing impairment	10/67	OMIM:131300
4126	MANBA	HP:0000343	Long philtrum	1/7	OMIM:615777
4126	MANBA	HP:0011001	Increased bone mineral density	-	OMIM:131300
4126	MANBA	HP:0000311	Round face	2/7	OMIM:615777
4126	MANBA	HP:0002970	Genu varum	-	OMIM:615777
4126	MANBA	HP:0000303	Mandibular prognathia	-	OMIM:131300
4126	MANBA	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4126	MANBA	HP:0000470	Short neck	1/7	OMIM:615777
4126	MANBA	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4126	MANBA	HP:0001763	Pes planus	1/7	OMIM:615777
4126	MANBA	HP:0001840	Metatarsus adductus	-	OMIM:615777
4126	MANBA	HP:0000520	Proptosis	2/4	OMIM:131300
4126	MANBA	HP:0000520	Proptosis	7/7	OMIM:615777
4126	MANBA	HP:0000503	Tortuosity of conjunctival vessels	-	OMIM:248510
4126	MANBA	HP:0000592	Blue sclerae	2/7	OMIM:615777
4126	MANBA	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4126	MANBA	HP:0012514	Lower limb pain	4/4	OMIM:131300
4128	MAOA	HP:0001270	Motor delay	HP:0040283	OMIM:300615
4128	MAOA	HP:0001249	Intellectual disability	-	OMIM:300615
4128	MAOA	HP:0031284	Flushing	HP:0040284	OMIM:300615
4128	MAOA	HP:0001419	X-linked recessive inheritance	-	OMIM:300615
4128	MAOA	HP:0002014	Diarrhea	HP:0040284	OMIM:300615
4128	MAOA	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:3057
4128	MAOA	HP:0100710	Impulsivity	-	OMIM:300615
4128	MAOA	HP:0100716	Self-injurious behavior	-	OMIM:300615
4128	MAOA	HP:0002315	Headache	-	OMIM:300615
4128	MAOA	HP:0000744	Low frustration tolerance	-	OMIM:300615
4128	MAOA	HP:0000718	Aggressive behavior	-	OMIM:300615
4128	MAOA	HP:0000717	Autism	-	OMIM:300615
4128	MAOA	HP:0000708	Atypical behavior	HP:0040281	ORPHA:3057
4128	MAOA	HP:0030186	Kinetic tremor	-	OMIM:300615
4131	MAP1B	HP:0001182	Tapered finger	1/1	OMIM:618918
4131	MAP1B	HP:0002442	Dyscalculia	4/15	OMIM:618918
4131	MAP1B	HP:0008619	Bilateral sensorineural hearing impairment	7/7	OMIM:619808
4131	MAP1B	HP:0008551	Microtia	1/1	OMIM:618918
4131	MAP1B	HP:0001249	Intellectual disability	12/16	OMIM:618918
4131	MAP1B	HP:0001263	Global developmental delay	1/1	OMIM:618918
4131	MAP1B	HP:0032388	Periventricular nodular heterotopia	13/20	OMIM:618918
4131	MAP1B	HP:0007359	Focal-onset seizure	2/5	OMIM:618918
4131	MAP1B	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:98892
4131	MAP1B	HP:0001212	Prominent fingertip pads	1/1	OMIM:618918
4131	MAP1B	HP:0003834	Shoulder dislocation	HP:0040283	ORPHA:98892
4131	MAP1B	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:98892
4131	MAP1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:618918
4131	MAP1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:619808
4131	MAP1B	HP:0002650	Scoliosis	HP:0040281	ORPHA:98892
4131	MAP1B	HP:0002021	Pyloric stenosis	HP:0040281	ORPHA:98892
4131	MAP1B	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:98892
4131	MAP1B	HP:0002079	Hypoplasia of the corpus callosum	4/6	OMIM:618918
4131	MAP1B	HP:0002136	Broad-based gait	1/1	OMIM:618918
4131	MAP1B	HP:0002126	Polymicrogyria	3/5	OMIM:618918
4131	MAP1B	HP:0010522	Dyslexia	6/15	OMIM:618918
4131	MAP1B	HP:0003596	Middle age onset	1/7	OMIM:619808
4131	MAP1B	HP:0100790	Hernia	HP:0040281	ORPHA:98892
4131	MAP1B	HP:0002282	Gray matter heterotopia	1/1	OMIM:618918
4131	MAP1B	HP:0007018	Attention deficit hyperactivity disorder	6/16	OMIM:618918
4131	MAP1B	HP:0001007	Hirsutism	1/1	OMIM:618918
4131	MAP1B	HP:0010803	Everted upper lip vermilion	1/1	OMIM:618918
4131	MAP1B	HP:0007165	Periventricular heterotopia	HP:0040282	ORPHA:98892
4131	MAP1B	HP:0003621	Juvenile onset	2/7	OMIM:619808
4131	MAP1B	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:98892
4131	MAP1B	HP:0004209	Clinodactyly of the 5th finger	1/1	OMIM:618918
4131	MAP1B	HP:0011342	Mild global developmental delay	5/10	OMIM:618918
4131	MAP1B	HP:0012639	Abnormal nervous system morphology	HP:0040282	ORPHA:98892
4131	MAP1B	HP:0000664	Synophrys	1/1	OMIM:618918
4131	MAP1B	HP:0000750	Delayed speech and language development	2/6	OMIM:618918
4131	MAP1B	HP:0000729	Autistic behavior	4/15	OMIM:618918
4131	MAP1B	HP:0000722	Compulsive behaviors	2/15	OMIM:618918
4131	MAP1B	HP:0011462	Young adult onset	5/7	OMIM:619808
4131	MAP1B	HP:0000954	Single transverse palmar crease	1/1	OMIM:618918
4131	MAP1B	HP:0000963	Thin skin	HP:0040282	ORPHA:98892
4131	MAP1B	HP:0000286	Epicanthus	1/1	OMIM:618918
4131	MAP1B	HP:0030084	Clinodactyly	1/5	OMIM:618918
4131	MAP1B	HP:0000252	Microcephaly	1/1	OMIM:618918
4131	MAP1B	HP:0000218	High palate	1/1	OMIM:618918
4131	MAP1B	HP:0000212	Gingival overgrowth	1/1	OMIM:618918
4131	MAP1B	HP:0030026	Squared superior portion of helix	1/1	OMIM:618918
4131	MAP1B	HP:0000358	Posteriorly rotated ears	1/1	OMIM:618918
4131	MAP1B	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:98892
4131	MAP1B	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:98892
4131	MAP1B	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:98892
4131	MAP1B	HP:0001654	Abnormal heart valve morphology	HP:0040282	ORPHA:98892
4131	MAP1B	HP:0011182	Interictal epileptiform activity	3/5	OMIM:618918
4131	MAP1B	HP:0005326	Hypoplastic philtrum	1/1	OMIM:618918
4131	MAP1B	HP:0001761	Pes cavus	1/5	OMIM:618918
4131	MAP1B	HP:0005487	Prominent metopic ridge	1/1	OMIM:618918
4131	MAP1B	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:98892
4137	MAPT	HP:0001188	Hand clenching	HP:0040282	ORPHA:240103
4137	MAPT	HP:0002493	Upper motor neuron dysfunction	HP:0040283	ORPHA:275864
4137	MAPT	HP:0002465	Poor speech	HP:0040282	ORPHA:240112
4137	MAPT	HP:0002465	Poor speech	HP:0040281	ORPHA:275864
4137	MAPT	HP:0002463	Language impairment	-	OMIM:172700
4137	MAPT	HP:0002463	Language impairment	-	OMIM:600274
4137	MAPT	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:240094
4137	MAPT	HP:0002476	Primitive reflex	-	OMIM:600274
4137	MAPT	HP:0002476	Primitive reflex	-	OMIM:172700
4137	MAPT	HP:0002442	Dyscalculia	HP:0040281	ORPHA:275864
4137	MAPT	HP:0002439	Frontolimbic dementia	-	OMIM:601104
4137	MAPT	HP:0002451	Limb dystonia	-	OMIM:601104
4137	MAPT	HP:0002446	Astrocytosis	1/1	OMIM:601104
4137	MAPT	HP:0002446	Astrocytosis	HP:0040283	ORPHA:275864
4137	MAPT	HP:0002446	Astrocytosis	HP:0040283	ORPHA:100070
4137	MAPT	HP:0007311	Short stepped shuffling gait	HP:0040283	ORPHA:240094
4137	MAPT	HP:0007311	Short stepped shuffling gait	-	OMIM:168600
4137	MAPT	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:240071
4137	MAPT	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:240103
4137	MAPT	HP:0007256	Abnormal pyramidal sign	-	OMIM:260540
4137	MAPT	HP:0003745	Sporadic	-	OMIM:172700
4137	MAPT	HP:0003745	Sporadic	-	OMIM:168600
4137	MAPT	HP:0002427	Expressive aphasia	HP:0040283	ORPHA:100070
4137	MAPT	HP:0001297	Stroke	-	ORPHA:100070
4137	MAPT	HP:0025268	Stuttering	HP:0040281	ORPHA:240112
4137	MAPT	HP:0001268	Mental deterioration	HP:0040282	ORPHA:240085
4137	MAPT	HP:0001268	Mental deterioration	HP:0040281	ORPHA:240071
4137	MAPT	HP:0001268	Mental deterioration	HP:0040282	ORPHA:240112
4137	MAPT	HP:0001268	Mental deterioration	HP:0040282	ORPHA:240103
4137	MAPT	HP:0001268	Mental deterioration	HP:0040281	ORPHA:275864
4137	MAPT	HP:0001268	Mental deterioration	HP:0040281	ORPHA:100070
4137	MAPT	HP:0001288	Gait disturbance	HP:0040283	ORPHA:275864
4137	MAPT	HP:0001260	Dysarthria	HP:0040282	ORPHA:240071
4137	MAPT	HP:0001260	Dysarthria	1/1	OMIM:601104
4137	MAPT	HP:0001260	Dysarthria	HP:0040282	ORPHA:240103
4137	MAPT	HP:0001260	Dysarthria	-	OMIM:168600
4137	MAPT	HP:0002591	Polyphagia	-	OMIM:172700
4137	MAPT	HP:0002591	Polyphagia	-	OMIM:600274
4137	MAPT	HP:0008768	Abnormal sexual behavior	-	OMIM:600274
4137	MAPT	HP:0007354	Amyotrophic lateral sclerosis	8/10	OMIM:600274
4137	MAPT	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	HP:0040283	ORPHA:240071
4137	MAPT	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	HP:0040281	ORPHA:240085
4137	MAPT	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	HP:0040283	ORPHA:240103
4137	MAPT	HP:0002549	Deficit in phonologic short-term memory	HP:0040281	ORPHA:240112
4137	MAPT	HP:0002544	Retrocollis	-	OMIM:601104
4137	MAPT	HP:0002530	Axial dystonia	-	OMIM:601104
4137	MAPT	HP:0002530	Axial dystonia	HP:0040282	ORPHA:240071
4137	MAPT	HP:0002528	Granulovacuolar degeneration	-	OMIM:601104
4137	MAPT	HP:0002529	Neuronal loss in central nervous system	-	OMIM:600274
4137	MAPT	HP:0002529	Neuronal loss in central nervous system	-	OMIM:601104
4137	MAPT	HP:0002529	Neuronal loss in central nervous system	-	OMIM:172700
4137	MAPT	HP:0002529	Neuronal loss in central nervous system	-	OMIM:168600
4137	MAPT	HP:0002527	Falls	1/1	OMIM:601104
4137	MAPT	HP:0002527	Falls	HP:0040283	ORPHA:240094
4137	MAPT	HP:0002527	Falls	HP:0040282	ORPHA:240085
4137	MAPT	HP:0002527	Falls	HP:0040281	ORPHA:240071
4137	MAPT	HP:0002527	Falls	HP:0040283	ORPHA:240112
4137	MAPT	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:240094
4137	MAPT	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:275864
4137	MAPT	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:100070
4137	MAPT	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:275864
4137	MAPT	HP:0001332	Dystonia	HP:0040282	ORPHA:240085
4137	MAPT	HP:0001332	Dystonia	HP:0040283	ORPHA:240071
4137	MAPT	HP:0001332	Dystonia	-	OMIM:168600
4137	MAPT	HP:0000012	Urinary urgency	-	OMIM:168600
4137	MAPT	HP:0000007	Autosomal recessive inheritance	-	OMIM:260540
4137	MAPT	HP:0001337	Tremor	HP:0040282	ORPHA:240085
4137	MAPT	HP:0001337	Tremor	HP:0040283	ORPHA:240071
4137	MAPT	HP:0001337	Tremor	-	OMIM:601104
4137	MAPT	HP:0001337	Tremor	HP:0040282	ORPHA:240103
4137	MAPT	HP:0001337	Tremor	-	OMIM:260540
4137	MAPT	HP:0001337	Tremor	-	OMIM:168600
4137	MAPT	HP:0000006	Autosomal dominant inheritance	-	OMIM:601104
4137	MAPT	HP:0000006	Autosomal dominant inheritance	-	OMIM:172700
4137	MAPT	HP:0000006	Autosomal dominant inheritance	-	OMIM:168600
4137	MAPT	HP:0000006	Autosomal dominant inheritance	-	OMIM:600274
4137	MAPT	HP:0001300	Parkinsonism	-	OMIM:601104
4137	MAPT	HP:0001300	Parkinsonism	HP:0040282	ORPHA:240071
4137	MAPT	HP:0001300	Parkinsonism	HP:0040283	ORPHA:240112
4137	MAPT	HP:0001300	Parkinsonism	4/10	OMIM:600274
4137	MAPT	HP:0001300	Parkinsonism	-	OMIM:260540
4137	MAPT	HP:0001300	Parkinsonism	-	OMIM:168600
4137	MAPT	HP:0001300	Parkinsonism	HP:0040283	ORPHA:100070
4137	MAPT	HP:0002751	Kyphoscoliosis	-	OMIM:260540
4137	MAPT	HP:0002019	Constipation	-	OMIM:168600
4137	MAPT	HP:0002015	Dysphagia	1/1	OMIM:601104
4137	MAPT	HP:0002015	Dysphagia	HP:0040283	ORPHA:240112
4137	MAPT	HP:0002015	Dysphagia	HP:0040283	ORPHA:240103
4137	MAPT	HP:0002015	Dysphagia	-	OMIM:168600
4137	MAPT	HP:0002098	Respiratory distress	HP:0040283	ORPHA:240085
4137	MAPT	HP:0002098	Respiratory distress	HP:0040284	ORPHA:240103
4137	MAPT	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:275864
4137	MAPT	HP:0002067	Bradykinesia	1/1	OMIM:601104
4137	MAPT	HP:0002067	Bradykinesia	-	ORPHA:240094
4137	MAPT	HP:0002067	Bradykinesia	HP:0040282	ORPHA:240085
4137	MAPT	HP:0002067	Bradykinesia	HP:0040282	ORPHA:240071
4137	MAPT	HP:0002067	Bradykinesia	HP:0040280	ORPHA:240103
4137	MAPT	HP:0002067	Bradykinesia	-	OMIM:168600
4137	MAPT	HP:0002068	Neuromuscular dysphagia	HP:0040283	ORPHA:240085
4137	MAPT	HP:0002068	Neuromuscular dysphagia	HP:0040283	ORPHA:240071
4137	MAPT	HP:0002063	Rigidity	1/1	OMIM:601104
4137	MAPT	HP:0002063	Rigidity	-	ORPHA:240094
4137	MAPT	HP:0002063	Rigidity	HP:0040282	ORPHA:240085
4137	MAPT	HP:0002063	Rigidity	HP:0040282	ORPHA:240103
4137	MAPT	HP:0002063	Rigidity	-	OMIM:260540
4137	MAPT	HP:0002063	Rigidity	-	OMIM:168600
4137	MAPT	HP:0002062	Abnormal pyramidal tract morphology	-	OMIM:260540
4137	MAPT	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:275864
4137	MAPT	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:100070
4137	MAPT	HP:0030953	Conjunctival hyperemia	HP:0040282	ORPHA:240071
4137	MAPT	HP:0002059	Cerebral atrophy	1/1	OMIM:601104
4137	MAPT	HP:0002145	Frontotemporal dementia	-	OMIM:600274
4137	MAPT	HP:0002145	Frontotemporal dementia	-	OMIM:172700
4137	MAPT	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:275864
4137	MAPT	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:100070
4137	MAPT	HP:0003474	Somatic sensory dysfunction	HP:0040282	ORPHA:240103
4137	MAPT	HP:0002141	Gait imbalance	1/1	OMIM:601104
4137	MAPT	HP:0002141	Gait imbalance	HP:0040282	ORPHA:240094
4137	MAPT	HP:0002141	Gait imbalance	HP:0040282	ORPHA:240071
4137	MAPT	HP:0002186	Apraxia	HP:0040281	ORPHA:240103
4137	MAPT	HP:0002186	Apraxia	HP:0040282	ORPHA:100070
4137	MAPT	HP:0002185	Neurofibrillary tangles	1/1	OMIM:601104
4137	MAPT	HP:0002185	Neurofibrillary tangles	-	ORPHA:100070
4137	MAPT	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:100069
4137	MAPT	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:240085
4137	MAPT	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:240112
4137	MAPT	HP:0002171	Gliosis	-	OMIM:601104
4137	MAPT	HP:0002171	Gliosis	-	OMIM:172700
4137	MAPT	HP:0002172	Postural instability	1/1	OMIM:601104
4137	MAPT	HP:0002172	Postural instability	HP:0040281	ORPHA:240085
4137	MAPT	HP:0002172	Postural instability	HP:0040281	ORPHA:240071
4137	MAPT	HP:0002172	Postural instability	HP:0040283	ORPHA:240112
4137	MAPT	HP:0002172	Postural instability	HP:0040281	ORPHA:240103
4137	MAPT	HP:0002172	Postural instability	-	OMIM:168600
4137	MAPT	HP:0010529	Echolalia	-	OMIM:172700
4137	MAPT	HP:0010529	Echolalia	HP:0040281	ORPHA:275864
4137	MAPT	HP:0010522	Dyslexia	HP:0040282	ORPHA:100069
4137	MAPT	HP:0010522	Dyslexia	HP:0040281	ORPHA:275864
4137	MAPT	HP:0010526	Dysgraphia	HP:0040282	ORPHA:100069
4137	MAPT	HP:0010526	Dysgraphia	HP:0040281	ORPHA:275864
4137	MAPT	HP:0010526	Dysgraphia	HP:0040283	ORPHA:100070
4137	MAPT	HP:0010523	Alexia	HP:0040282	ORPHA:100069
4137	MAPT	HP:0010523	Alexia	HP:0040282	ORPHA:100070
4137	MAPT	HP:0003596	Middle age onset	9/10	OMIM:600274
4137	MAPT	HP:0003587	Insidious onset	-	OMIM:168600
4137	MAPT	HP:0003584	Late onset	1/1	OMIM:601104
4137	MAPT	HP:0003584	Late onset	-	OMIM:168600
4137	MAPT	HP:0003581	Adult onset	-	OMIM:601104
4137	MAPT	HP:0003581	Adult onset	-	OMIM:260540
4137	MAPT	HP:0003581	Adult onset	-	OMIM:168600
4137	MAPT	HP:0100710	Impulsivity	HP:0040282	ORPHA:240071
4137	MAPT	HP:0200147	Neuronal loss in basal ganglia	-	OMIM:601104
4137	MAPT	HP:0011960	Substantia nigra gliosis	-	OMIM:168600
4137	MAPT	HP:0007086	Social and occupational deterioration	HP:0040283	ORPHA:240071
4137	MAPT	HP:0002380	Fasciculations	HP:0040283	ORPHA:275864
4137	MAPT	HP:0002381	Aphasia	HP:0040281	ORPHA:100069
4137	MAPT	HP:0002381	Aphasia	HP:0040283	ORPHA:240112
4137	MAPT	HP:0002381	Aphasia	HP:0040281	ORPHA:275864
4137	MAPT	HP:0002381	Aphasia	HP:0040282	ORPHA:240103
4137	MAPT	HP:0002381	Aphasia	HP:0040281	ORPHA:100070
4137	MAPT	HP:0002366	Abnormal lower motor neuron morphology	HP:0040283	ORPHA:100070
4137	MAPT	HP:0002360	Sleep abnormality	-	OMIM:168600
4137	MAPT	HP:0002359	Frequent falls	HP:0040282	ORPHA:240103
4137	MAPT	HP:0002374	Diminished movement	HP:0040282	ORPHA:240103
4137	MAPT	HP:0002371	Loss of speech	HP:0040281	ORPHA:275864
4137	MAPT	HP:0003676	Progressive	-	OMIM:168600
4137	MAPT	HP:0002354	Memory impairment	-	OMIM:601104
4137	MAPT	HP:0002354	Memory impairment	HP:0040283	ORPHA:240085
4137	MAPT	HP:0002354	Memory impairment	HP:0040282	ORPHA:240103
4137	MAPT	HP:0002354	Memory impairment	HP:0040281	ORPHA:275864
4137	MAPT	HP:0002354	Memory impairment	HP:0040281	ORPHA:100070
4137	MAPT	HP:0002322	Resting tremor	-	OMIM:168600
4137	MAPT	HP:0002317	Unsteady gait	HP:0040281	ORPHA:240094
4137	MAPT	HP:0007164	Slowed slurred speech	HP:0040282	ORPHA:240071
4137	MAPT	HP:0010794	Impaired visuospatial constructive cognition	HP:0040283	ORPHA:240085
4137	MAPT	HP:0007158	Progressive extrapyramidal muscular rigidity	HP:0040283	ORPHA:240112
4137	MAPT	HP:0007158	Progressive extrapyramidal muscular rigidity	HP:0040282	ORPHA:240103
4137	MAPT	HP:0007158	Progressive extrapyramidal muscular rigidity	HP:0040282	ORPHA:240071
4137	MAPT	HP:0007112	Temporal cortical atrophy	HP:0040281	ORPHA:100070
4137	MAPT	HP:0002300	Mutism	-	OMIM:601104
4137	MAPT	HP:0002300	Mutism	HP:0040283	ORPHA:275864
4137	MAPT	HP:0002300	Mutism	HP:0040283	ORPHA:100070
4137	MAPT	HP:0002312	Clumsiness	HP:0040283	ORPHA:240112
4137	MAPT	HP:0002304	Akinesia	-	OMIM:601104
4137	MAPT	HP:0002304	Akinesia	HP:0040283	ORPHA:240071
4137	MAPT	HP:0002304	Akinesia	HP:0040280	ORPHA:240094
4137	MAPT	HP:0031825	Freezing of gait	HP:0040280	ORPHA:240094
4137	MAPT	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:240112
4137	MAPT	HP:0009088	Speech articulation difficulties	HP:0040283	ORPHA:240103
4137	MAPT	HP:0006892	Frontotemporal cerebral atrophy	HP:0040281	ORPHA:275864
4137	MAPT	HP:0006892	Frontotemporal cerebral atrophy	HP:0040281	ORPHA:100070
4137	MAPT	HP:0031814	Palilalia	HP:0040282	ORPHA:240094
4137	MAPT	HP:0000633	Decreased lacrimation	HP:0040282	ORPHA:240071
4137	MAPT	HP:0000651	Diplopia	-	OMIM:601104
4137	MAPT	HP:0000643	Blepharospasm	HP:0040282	ORPHA:240071
4137	MAPT	HP:0000643	Blepharospasm	HP:0040284	ORPHA:240094
4137	MAPT	HP:0000613	Photophobia	HP:0040282	ORPHA:240071
4137	MAPT	HP:0000613	Photophobia	-	OMIM:601104
4137	MAPT	HP:0000622	Blurred vision	-	OMIM:601104
4137	MAPT	HP:0000622	Blurred vision	HP:0040282	ORPHA:240071
4137	MAPT	HP:0000605	Supranuclear gaze palsy	-	OMIM:601104
4137	MAPT	HP:0000605	Supranuclear gaze palsy	HP:0040282	ORPHA:240071
4137	MAPT	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:240094
4137	MAPT	HP:0012671	Abulia	HP:0040282	ORPHA:100069
4137	MAPT	HP:0012671	Abulia	HP:0040283	ORPHA:275864
4137	MAPT	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:275864
4137	MAPT	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:100070
4137	MAPT	HP:0000657	Oculomotor apraxia	HP:0040284	ORPHA:240094
4137	MAPT	HP:0000658	Eyelid apraxia	-	OMIM:601104
4137	MAPT	HP:0006977	Deficit in grammar	HP:0040281	ORPHA:240112
4137	MAPT	HP:0006977	Deficit in grammar	HP:0040281	ORPHA:100070
4137	MAPT	HP:0006961	Jerky head movements	HP:0040283	ORPHA:240103
4137	MAPT	HP:0004305	Involuntary movements	HP:0040282	ORPHA:240103
4137	MAPT	HP:0030692	Brain neoplasm	-	ORPHA:100070
4137	MAPT	HP:0006921	Axial muscle stiffness	HP:0040282	ORPHA:240085
4137	MAPT	HP:0006921	Axial muscle stiffness	HP:0040283	ORPHA:240071
4137	MAPT	HP:0031908	Micrographia	HP:0040282	ORPHA:240094
4137	MAPT	HP:0031908	Micrographia	1/1	OMIM:601104
4137	MAPT	HP:0031908	Micrographia	-	OMIM:168600
4137	MAPT	HP:0004373	Focal dystonia	HP:0040281	ORPHA:240103
4137	MAPT	HP:0031937	Tachylalia	HP:0040282	ORPHA:240094
4137	MAPT	HP:0000757	Lack of insight	HP:0040281	ORPHA:275864
4137	MAPT	HP:0000751	Personality changes	-	OMIM:600274
4137	MAPT	HP:0000751	Personality changes	-	OMIM:172700
4137	MAPT	HP:0000751	Personality changes	HP:0040281	ORPHA:275864
4137	MAPT	HP:0000751	Personality changes	HP:0040283	ORPHA:240103
4137	MAPT	HP:0000751	Personality changes	-	OMIM:168600
4137	MAPT	HP:0000751	Personality changes	HP:0040283	ORPHA:100070
4137	MAPT	HP:0000738	Hallucinations	HP:0040283	OMIM:168600
4137	MAPT	HP:0000737	Irritability	-	OMIM:172700
4137	MAPT	HP:0000737	Irritability	-	OMIM:600274
4137	MAPT	HP:0000737	Irritability	-	OMIM:601104
4137	MAPT	HP:0000737	Irritability	HP:0040281	ORPHA:275864
4137	MAPT	HP:0000739	Anxiety	-	ORPHA:240085
4137	MAPT	HP:0000739	Anxiety	HP:0040282	ORPHA:100070
4137	MAPT	HP:0000734	Disinhibition	-	OMIM:600274
4137	MAPT	HP:0000734	Disinhibition	-	OMIM:172700
4137	MAPT	HP:0000734	Disinhibition	HP:0040281	ORPHA:275864
4137	MAPT	HP:0000733	Motor stereotypy	-	OMIM:172700
4137	MAPT	HP:0000733	Motor stereotypy	HP:0040281	ORPHA:275864
4137	MAPT	HP:0000748	Inappropriate laughter	-	OMIM:600274
4137	MAPT	HP:0000748	Inappropriate laughter	-	OMIM:172700
4137	MAPT	HP:0000745	Abnormal diminished volition	-	OMIM:600274
4137	MAPT	HP:0000745	Abnormal diminished volition	-	OMIM:172700
4137	MAPT	HP:0000741	Apathy	-	OMIM:601104
4137	MAPT	HP:0000741	Apathy	-	OMIM:172700
4137	MAPT	HP:0000741	Apathy	HP:0040283	ORPHA:240085
4137	MAPT	HP:0000741	Apathy	-	OMIM:600274
4137	MAPT	HP:0000741	Apathy	HP:0040282	ORPHA:240112
4137	MAPT	HP:0000741	Apathy	HP:0040283	ORPHA:275864
4137	MAPT	HP:0000743	Frontal release signs	-	OMIM:601104
4137	MAPT	HP:0000743	Frontal release signs	-	ORPHA:240103
4137	MAPT	HP:0000719	Inappropriate behavior	HP:0040281	ORPHA:275864
4137	MAPT	HP:0000716	Depression	HP:0040282	ORPHA:240085
4137	MAPT	HP:0000716	Depression	HP:0040282	ORPHA:100070
4137	MAPT	HP:0000716	Depression	-	OMIM:168600
4137	MAPT	HP:0000718	Aggressive behavior	HP:0040281	ORPHA:275864
4137	MAPT	HP:0000711	Restlessness	HP:0040281	ORPHA:275864
4137	MAPT	HP:0000711	Restlessness	HP:0040283	ORPHA:100070
4137	MAPT	HP:0000710	Hyperorality	-	OMIM:600274
4137	MAPT	HP:0000710	Hyperorality	HP:0040281	ORPHA:275864
4137	MAPT	HP:0000710	Hyperorality	-	OMIM:172700
4137	MAPT	HP:0000727	Frontal lobe dementia	-	OMIM:600274
4137	MAPT	HP:0000726	Dementia	HP:0040283	ORPHA:240094
4137	MAPT	HP:0000726	Dementia	7/10	OMIM:600274
4137	MAPT	HP:0000726	Dementia	HP:0040282	ORPHA:100069
4137	MAPT	HP:0000726	Dementia	-	OMIM:260540
4137	MAPT	HP:0000726	Dementia	-	OMIM:168600
4137	MAPT	HP:0000723	Restrictive behavior	HP:0040281	ORPHA:275864
4137	MAPT	HP:0000709	Psychosis	HP:0040283	ORPHA:275864
4137	MAPT	HP:0000708	Atypical behavior	HP:0040283	ORPHA:100070
4137	MAPT	HP:0000708	Atypical behavior	HP:0040281	ORPHA:275864
4137	MAPT	HP:0011462	Young adult onset	-	OMIM:260540
4137	MAPT	HP:0030784	Anomic aphasia	HP:0040281	ORPHA:100069
4137	MAPT	HP:0030784	Anomic aphasia	HP:0040281	ORPHA:240112
4137	MAPT	HP:0100315	Lewy bodies	-	OMIM:168600
4137	MAPT	HP:0100315	Lewy bodies	-	ORPHA:100070
4137	MAPT	HP:0045084	Limb myoclonus	HP:0040282	ORPHA:240103
4137	MAPT	HP:0100256	Senile plaques	1/1	OMIM:601104
4137	MAPT	HP:0100256	Senile plaques	HP:0040283	ORPHA:100070
4137	MAPT	HP:0000298	Mask-like facies	-	OMIM:168600
4137	MAPT	HP:0011098	Speech apraxia	HP:0040281	ORPHA:240112
4137	MAPT	HP:0007885	Slowed horizontal saccades	HP:0040282	ORPHA:240103
4137	MAPT	HP:0031434	Abnormal prosody	HP:0040282	ORPHA:240094
4137	MAPT	HP:0031434	Abnormal prosody	HP:0040282	ORPHA:240112
4137	MAPT	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	OMIM:168600
4137	MAPT	HP:0001621	Weak voice	HP:0040282	ORPHA:240094
4137	MAPT	HP:0001621	Weak voice	-	OMIM:168600
4137	MAPT	HP:0005329	Fixed facial expression	HP:0040282	ORPHA:240094
4137	MAPT	HP:0030213	Emotional dearth	HP:0040281	ORPHA:275864
4137	MAPT	HP:0030213	Emotional dearth	-	OMIM:172700
4137	MAPT	HP:0030212	Collectionism	HP:0040282	ORPHA:275864
4137	MAPT	HP:0030217	Limb apraxia	HP:0040283	ORPHA:240112
4137	MAPT	HP:0030217	Limb apraxia	HP:0040281	ORPHA:240103
4137	MAPT	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:240085
4137	MAPT	HP:0030223	Perseverative thought	-	OMIM:172700
4137	MAPT	HP:0030223	Perseverative thought	HP:0040281	ORPHA:275864
4137	MAPT	HP:0030223	Perseverative thought	HP:0040283	ORPHA:100070
4137	MAPT	HP:0030222	Visual agnosia	HP:0040281	ORPHA:100069
4137	MAPT	HP:0012444	Brain atrophy	HP:0040281	ORPHA:100069
4137	MAPT	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:275864
4137	MAPT	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:100070
4137	MAPT	HP:0025710	Late young adult onset	1/10	OMIM:600274
4137	MAPT	HP:0000514	Slow saccadic eye movements	HP:0040282	ORPHA:240071
4137	MAPT	HP:0000514	Slow saccadic eye movements	HP:0040281	ORPHA:240103
4137	MAPT	HP:0000511	Vertical supranuclear gaze palsy	HP:0040282	ORPHA:240071
4137	MAPT	HP:0000511	Vertical supranuclear gaze palsy	HP:0040281	ORPHA:240085
4137	MAPT	HP:0000511	Vertical supranuclear gaze palsy	HP:0040283	ORPHA:240112
4137	MAPT	HP:0000511	Vertical supranuclear gaze palsy	HP:0040282	ORPHA:240103
4137	MAPT	HP:0000597	Ophthalmoparesis	-	OMIM:260540
4137	MAPT	HP:0000571	Hypometric saccades	HP:0040284	ORPHA:240094
4137	MAPT	HP:0000570	Abnormal saccadic eye movements	HP:0040282	ORPHA:240071
4137	MAPT	HP:0000570	Abnormal saccadic eye movements	HP:0040281	ORPHA:240085
4137	MAPT	HP:0000570	Abnormal saccadic eye movements	HP:0040282	ORPHA:240103
4137	MAPT	HP:0011204	EEG with continuous slow activity	HP:0040282	ORPHA:275864
4137	MAPT	HP:0011204	EEG with continuous slow activity	HP:0040282	ORPHA:100070
4137	MAPT	HP:0030391	Spoken word recognition deficit	HP:0040281	ORPHA:240112
4137	MAPT	HP:0030391	Spoken word recognition deficit	HP:0040281	ORPHA:100070
4140	MARK3	HP:0000007	Autosomal recessive inheritance	-	OMIM:618283
4140	MARK3	HP:0007663	Reduced visual acuity	3/3	OMIM:618283
4140	MARK3	HP:0003577	Congenital onset	3/3	OMIM:618283
4140	MARK3	HP:0000667	Phthisis bulbi	3/3	OMIM:618283
4140	MARK3	HP:0007720	Flat cornea	1/1	OMIM:618283
4140	MARK3	HP:0000508	Ptosis	1/1	OMIM:618283
4140	MARK3	HP:0000540	Hypermetropia	1/1	OMIM:618283
4141	MARS1	HP:0001156	Brachydactyly	1/1	OMIM:619692
4141	MARS1	HP:0002460	Distal muscle weakness	1/1	OMIM:616280
4141	MARS1	HP:0001270	Motor delay	1/1	OMIM:615486
4141	MARS1	HP:0001270	Motor delay	4/4	OMIM:620323
4141	MARS1	HP:0001288	Gait disturbance	3/3	OMIM:616280
4141	MARS1	HP:0001284	Areflexia	-	OMIM:616280
4141	MARS1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:401835
4141	MARS1	HP:0001252	Hypotonia	1/1	OMIM:615486
4141	MARS1	HP:0001251	Ataxia	1/1	OMIM:619692
4141	MARS1	HP:0001249	Intellectual disability	1/1	OMIM:619692
4141	MARS1	HP:0001260	Dysarthria	0/4	OMIM:620323
4141	MARS1	HP:0001263	Global developmental delay	1/1	OMIM:619692
4141	MARS1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:401835
4141	MARS1	HP:0001263	Global developmental delay	2/2	OMIM:620323
4141	MARS1	HP:0001257	Spasticity	6/6	OMIM:620323
4141	MARS1	HP:0001217	Clubbing	8/29	OMIM:615486
4141	MARS1	HP:0001397	Hepatic steatosis	6/30	OMIM:615486
4141	MARS1	HP:0001396	Cholestasis	1/1	OMIM:615486
4141	MARS1	HP:0001399	Hepatic failure	1/1	OMIM:615486
4141	MARS1	HP:0001395	Hepatic fibrosis	1/29	OMIM:615486
4141	MARS1	HP:0001394	Cirrhosis	8/29	OMIM:615486
4141	MARS1	HP:0001382	Joint hypermobility	1/1	OMIM:619692
4141	MARS1	HP:0001347	Hyperreflexia	3/3	OMIM:620323
4141	MARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619692
4141	MARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620323
4141	MARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615486
4141	MARS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616280
4141	MARS1	HP:0002650	Scoliosis	1/4	OMIM:620323
4141	MARS1	HP:0001315	Reduced tendon reflexes	1/1	OMIM:619692
4141	MARS1	HP:0002705	High, narrow palate	1/1	OMIM:619692
4141	MARS1	HP:0000100	Nephrotic syndrome	HP:0040284	ORPHA:401835
4141	MARS1	HP:0003355	Aminoaciduria	1/1	OMIM:615486
4141	MARS1	HP:0002013	Vomiting	1/1	OMIM:615486
4141	MARS1	HP:0002094	Dyspnea	28/29	OMIM:615486
4141	MARS1	HP:0002093	Respiratory insufficiency	-	OMIM:615486
4141	MARS1	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:401835
4141	MARS1	HP:0030948	Elevated gamma-glutamyltransferase level	20/29	OMIM:615486
4141	MARS1	HP:0003376	Steppage gait	1/1	OMIM:616280
4141	MARS1	HP:0003477	Peripheral axonal neuropathy	1/1	OMIM:616280
4141	MARS1	HP:0003474	Somatic sensory dysfunction	0/3	OMIM:620323
4141	MARS1	HP:0003596	Middle age onset	1/2	OMIM:616280
4141	MARS1	HP:0003593	Infantile onset	26/29	OMIM:615486
4141	MARS1	HP:0003593	Infantile onset	1/1	OMIM:619692
4141	MARS1	HP:0003593	Infantile onset	4/4	OMIM:620323
4141	MARS1	HP:0002240	Hepatomegaly	25/29	OMIM:615486
4141	MARS1	HP:0003584	Late onset	1/2	OMIM:616280
4141	MARS1	HP:0002206	Pulmonary fibrosis	12/18	OMIM:615486
4141	MARS1	HP:0008404	Nail dystrophy	1/1	OMIM:619692
4141	MARS1	HP:0007020	Progressive spastic paraplegia	HP:0040282	ORPHA:401835
4141	MARS1	HP:0011968	Feeding difficulties	2/2	OMIM:620323
4141	MARS1	HP:0002380	Fasciculations	0/3	OMIM:620323
4141	MARS1	HP:0003693	Distal amyotrophy	1/1	OMIM:616280
4141	MARS1	HP:0002378	Hand tremor	HP:0040282	ORPHA:401835
4141	MARS1	HP:0003676	Progressive	-	OMIM:615486
4141	MARS1	HP:0003677	Slowly progressive	-	OMIM:616280
4141	MARS1	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:401835
4141	MARS1	HP:0032152	Keratosis pilaris	1/1	OMIM:619692
4141	MARS1	HP:0003623	Neonatal onset	1/1	OMIM:615486
4141	MARS1	HP:0001903	Anemia	1/1	OMIM:615486
4141	MARS1	HP:0009027	Foot dorsiflexor weakness	-	OMIM:616280
4141	MARS1	HP:0000689	Dental malocclusion	1/1	OMIM:619692
4141	MARS1	HP:0001987	Hyperammonemia	1/1	OMIM:615486
4141	MARS1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	19/29	OMIM:615486
4141	MARS1	HP:0031964	Elevated circulating alanine aminotransferase concentration	13/29	OMIM:615486
4141	MARS1	HP:0031936	Delayed ability to walk	2/2	OMIM:620323
4141	MARS1	HP:0012735	Cough	7/29	OMIM:615486
4141	MARS1	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:401835
4141	MARS1	HP:0000750	Delayed speech and language development	2/2	OMIM:620323
4141	MARS1	HP:0011463	Childhood onset	3/29	OMIM:615486
4141	MARS1	HP:0011448	Ankle clonus	2/2	OMIM:620323
4141	MARS1	HP:0009130	Hand muscle atrophy	2/2	OMIM:616280
4141	MARS1	HP:0003128	Lactic acidosis	1/1	OMIM:615486
4141	MARS1	HP:0000821	Hypothyroidism	1/1	OMIM:615486
4141	MARS1	HP:0003202	Skeletal muscle atrophy	3/3	OMIM:620323
4141	MARS1	HP:0045055	Tiger tail banding	1/1	OMIM:619692
4141	MARS1	HP:0045075	Sparse eyebrow	1/1	OMIM:619692
4141	MARS1	HP:0008070	Sparse hair	1/1	OMIM:619692
4141	MARS1	HP:0008064	Ichthyosis	1/1	OMIM:619692
4141	MARS1	HP:0000286	Epicanthus	1/1	OMIM:619692
4141	MARS1	HP:0000252	Microcephaly	1/2	OMIM:620323
4141	MARS1	HP:0000218	High palate	2/2	OMIM:620323
4141	MARS1	HP:0001508	Failure to thrive	23/30	OMIM:615486
4141	MARS1	HP:0001510	Growth delay	2/2	OMIM:620323
4141	MARS1	HP:0006530	Abnormal pulmonary interstitial morphology	1/1	OMIM:615486
4141	MARS1	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040282	ORPHA:401835
4141	MARS1	HP:0006517	Intraalveolar phospholipid accumulation	-	OMIM:615486
4141	MARS1	HP:0002936	Distal sensory impairment	1/1	OMIM:616280
4141	MARS1	HP:0000369	Low-set ears	2/2	OMIM:620323
4141	MARS1	HP:0000347	Micrognathia	2/2	OMIM:620323
4141	MARS1	HP:0000316	Hypertelorism	2/2	OMIM:620323
4141	MARS1	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:620323
4141	MARS1	HP:0030237	Hand muscle weakness	1/2	OMIM:616280
4141	MARS1	HP:0012447	Abnormal myelination	HP:0040282	ORPHA:401835
4141	MARS1	HP:0001771	Achilles tendon contracture	2/4	OMIM:620323
4141	MARS1	HP:0012418	Hypoxemia	14/29	OMIM:615486
4141	MARS1	HP:0001894	Thrombocytosis	1/1	OMIM:615486
4143	MAT1A	HP:0007305	CNS demyelination	-	OMIM:250850
4143	MAT1A	HP:0100812	Halitosis	-	OMIM:250850
4143	MAT1A	HP:0001249	Intellectual disability	HP:0040283	OMIM:250850
4143	MAT1A	HP:0001347	Hyperreflexia	-	OMIM:250850
4143	MAT1A	HP:0001332	Dystonia	-	OMIM:250850
4143	MAT1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:250850
4143	MAT1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:250850
4143	MAT1A	HP:0003235	Hypermethioninemia	-	OMIM:250850
4143	MAT1A	HP:0011096	Peripheral demyelination	-	OMIM:250850
4144	MAT2A	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0001297	Stroke	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
4144	MAT2A	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
4144	MAT2A	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
4144	MAT2A	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
4144	MAT2A	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
4144	MAT2A	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
4144	MAT2A	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
4144	MAT2A	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
4144	MAT2A	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
4144	MAT2A	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
4144	MAT2A	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
4144	MAT2A	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
4144	MAT2A	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
4144	MAT2A	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
4144	MAT2A	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
4148	MATN3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4148	MATN3	HP:0001293	Cranial nerve compression	-	OMIM:131300
4148	MATN3	HP:0001288	Gait disturbance	HP:0040283	ORPHA:93311
4148	MATN3	HP:0001252	Hypotonia	2/7	OMIM:615777
4148	MATN3	HP:0001249	Intellectual disability	5/7	OMIM:615777
4148	MATN3	HP:0001263	Global developmental delay	-	OMIM:615777
4148	MATN3	HP:0100864	Short femoral neck	1/1	OMIM:607078
4148	MATN3	HP:0001216	Delayed ossification of carpal bones	-	OMIM:607078
4148	MATN3	HP:0002515	Waddling gait	HP:0040282	ORPHA:156728
4148	MATN3	HP:0002515	Waddling gait	54/102	OMIM:131300
4148	MATN3	HP:0002515	Waddling gait	4/5	OMIM:608728
4148	MATN3	HP:0003839	Abnormal upper limb epiphysis morphology	HP:0040282	ORPHA:93311
4148	MATN3	HP:0008800	Limited hip movement	HP:0040283	ORPHA:93311
4148	MATN3	HP:0001377	Limited elbow extension	2/5	OMIM:608728
4148	MATN3	HP:0001377	Limited elbow extension	HP:0040282	ORPHA:156728
4148	MATN3	HP:0001385	Hip dysplasia	HP:0040281	ORPHA:93311
4148	MATN3	HP:0001387	Joint stiffness	HP:0040283	ORPHA:93311
4148	MATN3	HP:0001382	Joint hypermobility	-	OMIM:615777
4148	MATN3	HP:0001384	Abnormal hip joint morphology	HP:0040282	ORPHA:93311
4148	MATN3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4148	MATN3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4148	MATN3	HP:0008873	Disproportionate short-limb short stature	5/5	OMIM:608728
4148	MATN3	HP:0008873	Disproportionate short-limb short stature	HP:0040282	ORPHA:156728
4148	MATN3	HP:0008828	Delayed proximal femoral epiphyseal ossification	HP:0040281	ORPHA:93311
4148	MATN3	HP:0008794	Dysplastic iliac wing	-	OMIM:608728
4148	MATN3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4148	MATN3	HP:0002656	Epiphyseal dysplasia	-	OMIM:607078
4148	MATN3	HP:0001324	Muscle weakness	40/96	OMIM:131300
4148	MATN3	HP:0002654	Multiple epiphyseal dysplasia	-	OMIM:607078
4148	MATN3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4148	MATN3	HP:0000007	Autosomal recessive inheritance	-	OMIM:608728
4148	MATN3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4148	MATN3	HP:0000006	Autosomal dominant inheritance	-	OMIM:140600
4148	MATN3	HP:0000006	Autosomal dominant inheritance	-	OMIM:607078
4148	MATN3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4148	MATN3	HP:0002650	Scoliosis	12/14	OMIM:131300
4148	MATN3	HP:0002651	Spondyloepimetaphyseal dysplasia	-	OMIM:608728
4148	MATN3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4148	MATN3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4148	MATN3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4148	MATN3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4148	MATN3	HP:0000175	Cleft palate	2/7	OMIM:615777
4148	MATN3	HP:0002758	Osteoarthritis	-	OMIM:140600
4148	MATN3	HP:0003365	Arthralgia of the hip	HP:0040283	ORPHA:93311
4148	MATN3	HP:0003365	Arthralgia of the hip	-	OMIM:607078
4148	MATN3	HP:0003300	Ovoid vertebral bodies	-	OMIM:608728
4148	MATN3	HP:0003375	Narrow greater sciatic notch	-	OMIM:608728
4148	MATN3	HP:0003388	Easy fatigability	36/76	OMIM:131300
4148	MATN3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4148	MATN3	HP:0008103	Delayed tarsal ossification	-	OMIM:607078
4148	MATN3	HP:0003418	Back pain	HP:0040284	ORPHA:93311
4148	MATN3	HP:0010585	Small epiphyses	-	OMIM:608728
4148	MATN3	HP:0010585	Small epiphyses	-	OMIM:607078
4148	MATN3	HP:0010582	Irregular epiphyses	-	OMIM:608728
4148	MATN3	HP:0010582	Irregular epiphyses	-	OMIM:607078
4148	MATN3	HP:0003593	Infantile onset	4/5	OMIM:608728
4148	MATN3	HP:0003577	Congenital onset	1/5	OMIM:608728
4148	MATN3	HP:0010631	Abnormality of the epiphyses of the feet	HP:0040282	ORPHA:93311
4148	MATN3	HP:0003510	Severe short stature	7/7	OMIM:615777
4148	MATN3	HP:0003502	Mild short stature	HP:0040282	ORPHA:93311
4148	MATN3	HP:0002315	Headache	-	OMIM:131300
4148	MATN3	HP:0004976	Knee dislocation	6/7	OMIM:615777
4148	MATN3	HP:0009826	Limb undergrowth	HP:0040281	ORPHA:156728
4148	MATN3	HP:0009803	Short phalanx of finger	-	OMIM:615777
4148	MATN3	HP:0009763	Limb pain	63/92	OMIM:131300
4148	MATN3	HP:0008419	Intervertebral disk degeneration	HP:0040283	ORPHA:93311
4148	MATN3	HP:0003621	Juvenile onset	-	OMIM:131300
4148	MATN3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4148	MATN3	HP:0004268	Osteoarthritis of the small joints of the hand	HP:0040283	ORPHA:93311
4148	MATN3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4148	MATN3	HP:6001056	Out-toeing	-	OMIM:131300
4148	MATN3	HP:0000651	Diplopia	-	OMIM:131300
4148	MATN3	HP:0001956	Truncal obesity	2/7	OMIM:615777
4148	MATN3	HP:0001903	Anemia	HP:0040283	OMIM:131300
4148	MATN3	HP:0010049	Short metacarpal	-	OMIM:615777
4148	MATN3	HP:0010049	Short metacarpal	1/1	OMIM:607078
4148	MATN3	HP:0000678	Dental crowding	-	OMIM:615777
4148	MATN3	HP:0000670	Carious teeth	-	OMIM:131300
4148	MATN3	HP:0011304	Broad thumb	2/7	OMIM:615777
4148	MATN3	HP:0000668	Hypodontia	-	OMIM:615777
4148	MATN3	HP:0000664	Synophrys	-	OMIM:615777
4148	MATN3	HP:0004322	Short stature	3/7	OMIM:607078
4148	MATN3	HP:0004322	Short stature	HP:0040281	ORPHA:156728
4148	MATN3	HP:0003088	Premature osteoarthritis	HP:0040282	ORPHA:93311
4148	MATN3	HP:0003088	Premature osteoarthritis	-	OMIM:607078
4148	MATN3	HP:0004396	Poor appetite	-	OMIM:131300
4148	MATN3	HP:0003037	Enlarged joints	HP:0040283	ORPHA:156728
4148	MATN3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4148	MATN3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4148	MATN3	HP:0003016	Metaphyseal widening	-	OMIM:608728
4148	MATN3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4148	MATN3	HP:0003026	Short long bone	7/7	OMIM:615777
4148	MATN3	HP:0003026	Short long bone	-	OMIM:608728
4148	MATN3	HP:0003025	Metaphyseal irregularity	-	OMIM:607078
4148	MATN3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4148	MATN3	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:156728
4148	MATN3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4148	MATN3	HP:0000767	Pectus excavatum	1/5	OMIM:608728
4148	MATN3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4148	MATN3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4148	MATN3	HP:0000750	Delayed speech and language development	-	OMIM:615777
4148	MATN3	HP:0011461	Fetal onset	7/7	OMIM:615777
4148	MATN3	HP:0000774	Narrow chest	2/7	OMIM:615777
4148	MATN3	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040283	ORPHA:93311
4148	MATN3	HP:0000926	Platyspondyly	1/7	OMIM:615777
4148	MATN3	HP:0000926	Platyspondyly	-	OMIM:608728
4148	MATN3	HP:0000922	Posterior rib cupping	-	OMIM:608728
4148	MATN3	HP:0003177	Squared iliac bones	-	OMIM:608728
4148	MATN3	HP:0003173	Hypoplastic pubic bone	-	OMIM:608728
4148	MATN3	HP:0003170	Abnormal acetabulum morphology	HP:0040283	ORPHA:93311
4148	MATN3	HP:0003184	Decreased hip abduction	HP:0040283	ORPHA:93311
4148	MATN3	HP:0003180	Flat acetabular roof	-	OMIM:615777
4148	MATN3	HP:0003180	Flat acetabular roof	-	OMIM:608728
4148	MATN3	HP:0004482	Relative macrocephaly	-	OMIM:615777
4148	MATN3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4148	MATN3	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:607078
4148	MATN3	HP:0000823	Delayed puberty	-	OMIM:131300
4148	MATN3	HP:0000894	Short clavicles	-	OMIM:615777
4148	MATN3	HP:0005877	Multiple small vertebral fractures	HP:0040283	ORPHA:93311
4148	MATN3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4148	MATN3	HP:0030839	Knee pain	HP:0040282	ORPHA:93311
4148	MATN3	HP:0030838	Hip pain	1/1	OMIM:607078
4148	MATN3	HP:0030840	Ankle pain	HP:0040283	ORPHA:93311
4148	MATN3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4148	MATN3	HP:0000286	Epicanthus	1/7	OMIM:615777
4148	MATN3	HP:0000280	Coarse facial features	2/7	OMIM:615777
4148	MATN3	HP:0006429	Broad femoral neck	-	OMIM:607078
4148	MATN3	HP:0002812	Coxa vara	2/7	OMIM:607078
4148	MATN3	HP:0002829	Arthralgia	-	OMIM:607078
4148	MATN3	HP:0002827	Hip dislocation	3/7	OMIM:615777
4148	MATN3	HP:0005054	Metaphyseal spurs	-	OMIM:608728
4148	MATN3	HP:0000252	Microcephaly	-	OMIM:615777
4148	MATN3	HP:0002857	Genu valgum	-	OMIM:131300
4148	MATN3	HP:0002857	Genu valgum	HP:0040282	ORPHA:93311
4148	MATN3	HP:0002857	Genu valgum	1/7	OMIM:607078
4148	MATN3	HP:0001533	Slender build	-	OMIM:131300
4148	MATN3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4148	MATN3	HP:0007807	Optic nerve compression	-	OMIM:131300
4148	MATN3	HP:0012368	Flat face	HP:0040283	ORPHA:156728
4148	MATN3	HP:0012368	Flat face	7/7	OMIM:615777
4148	MATN3	HP:0012368	Flat face	1/5	OMIM:608728
4148	MATN3	HP:0005257	Thoracic hypoplasia	1/5	OMIM:608728
4148	MATN3	HP:0005257	Thoracic hypoplasia	HP:0040283	ORPHA:156728
4148	MATN3	HP:0002938	Lumbar hyperlordosis	HP:0040282	ORPHA:156728
4148	MATN3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4148	MATN3	HP:0002938	Lumbar hyperlordosis	4/5	OMIM:608728
4148	MATN3	HP:0000365	Hearing impairment	10/67	OMIM:131300
4148	MATN3	HP:0000343	Long philtrum	1/7	OMIM:615777
4148	MATN3	HP:0011001	Increased bone mineral density	-	OMIM:131300
4148	MATN3	HP:0012313	Heberden node	-	OMIM:140600
4148	MATN3	HP:0002983	Micromelia	-	OMIM:608728
4148	MATN3	HP:0002980	Femoral bowing	1/5	OMIM:608728
4148	MATN3	HP:0002979	Bowing of the legs	4/5	OMIM:608728
4148	MATN3	HP:0002979	Bowing of the legs	HP:0040281	ORPHA:156728
4148	MATN3	HP:0000311	Round face	2/7	OMIM:615777
4148	MATN3	HP:0002970	Genu varum	HP:0040282	ORPHA:93311
4148	MATN3	HP:0002970	Genu varum	-	OMIM:615777
4148	MATN3	HP:0000303	Mandibular prognathia	-	OMIM:131300
4148	MATN3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4148	MATN3	HP:0000470	Short neck	1/7	OMIM:615777
4148	MATN3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4148	MATN3	HP:0001763	Pes planus	1/7	OMIM:615777
4148	MATN3	HP:0001840	Metatarsus adductus	-	OMIM:615777
4148	MATN3	HP:0000520	Proptosis	2/4	OMIM:131300
4148	MATN3	HP:0000520	Proptosis	7/7	OMIM:615777
4148	MATN3	HP:0000592	Blue sclerae	2/7	OMIM:615777
4148	MATN3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4148	MATN3	HP:0012514	Lower limb pain	4/4	OMIM:131300
4149	MAX	HP:0001162	Postaxial hand polydactyly	3/3	OMIM:620712
4149	MAX	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:29072
4149	MAX	HP:0001195	Single umbilical artery	1/3	OMIM:620712
4149	MAX	HP:0025269	Panic attack	HP:0040283	ORPHA:29072
4149	MAX	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:29072
4149	MAX	HP:0001263	Global developmental delay	1/2	OMIM:620712
4149	MAX	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:29072
4149	MAX	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:29072
4149	MAX	HP:0000093	Proteinuria	-	OMIM:171300
4149	MAX	HP:0000093	Proteinuria	HP:0040282	ORPHA:29072
4149	MAX	HP:0000047	Hypospadias	1/3	OMIM:620712
4149	MAX	HP:0002664	Neoplasm	-	OMIM:171300
4149	MAX	HP:0001342	Cerebral hemorrhage	-	OMIM:171300
4149	MAX	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:29072
4149	MAX	HP:0002668	Paraganglioma	HP:0040281	ORPHA:29072
4149	MAX	HP:0001337	Tremor	HP:0040283	ORPHA:29072
4149	MAX	HP:0000006	Autosomal dominant inheritance	-	OMIM:171300
4149	MAX	HP:0000006	Autosomal dominant inheritance	-	OMIM:620712
4149	MAX	HP:0002666	Pheochromocytoma	-	OMIM:171300
4149	MAX	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:29072
4149	MAX	HP:0031284	Flushing	HP:0040282	ORPHA:29072
4149	MAX	HP:0000104	Renal agenesis	1/3	OMIM:620712
4149	MAX	HP:0002018	Nausea	HP:0040282	ORPHA:29072
4149	MAX	HP:0003345	Elevated urinary norepinephrine level	-	OMIM:171300
4149	MAX	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:29072
4149	MAX	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:29072
4149	MAX	HP:0002119	Ventriculomegaly	1/3	OMIM:620712
4149	MAX	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:29072
4149	MAX	HP:0003577	Congenital onset	3/3	OMIM:620712
4149	MAX	HP:0003574	Positive regitine blocking test	-	OMIM:171300
4149	MAX	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:29072
4149	MAX	HP:0003528	Elevated circulating calcitonin concentration	HP:0040283	ORPHA:29072
4149	MAX	HP:0009711	Retinal capillary hemangioma	HP:0040283	ORPHA:29072
4149	MAX	HP:0100749	Chest pain	HP:0040282	ORPHA:29072
4149	MAX	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:29072
4149	MAX	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:29072
4149	MAX	HP:0001028	Hemangioma	-	OMIM:171300
4149	MAX	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:29072
4149	MAX	HP:0001095	Hypertensive retinopathy	-	OMIM:171300
4149	MAX	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:29072
4149	MAX	HP:0009789	Perianal abscess	1/3	OMIM:620712
4149	MAX	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:29072
4149	MAX	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:29072
4149	MAX	HP:0001962	Palpitations	HP:0040282	ORPHA:29072
4149	MAX	HP:0001920	Renal artery stenosis	-	OMIM:171300
4149	MAX	HP:0003072	Hypercalcemia	-	OMIM:171300
4149	MAX	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:29072
4149	MAX	HP:0000768	Pectus carinatum	1/3	OMIM:620712
4149	MAX	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:29072
4149	MAX	HP:0000729	Autistic behavior	2/2	OMIM:620712
4149	MAX	HP:0000790	Hematuria	HP:0040283	ORPHA:29072
4149	MAX	HP:0000875	Episodic hypertension	-	OMIM:171300
4149	MAX	HP:0004592	Thoracic platyspondyly	1/3	OMIM:620712
4149	MAX	HP:0000980	Pallor	HP:0040283	ORPHA:29072
4149	MAX	HP:0000975	Hyperhidrosis	-	OMIM:171300
4149	MAX	HP:0000957	Cafe-au-lait spot	-	OMIM:171300
4149	MAX	HP:0000256	Macrocephaly	2/3	OMIM:620712
4149	MAX	HP:0012222	Arachnoid hemangiomatosis	HP:0040283	ORPHA:29072
4149	MAX	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:29072
4149	MAX	HP:0012378	Fatigue	HP:0040282	ORPHA:29072
4149	MAX	HP:0007898	Exudative retinopathy	1/2	OMIM:620712
4149	MAX	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:29072
4149	MAX	HP:0001618	Dysphonia	HP:0040282	ORPHA:29072
4149	MAX	HP:0001649	Tachycardia	-	OMIM:171300
4149	MAX	HP:0001655	Patent foramen ovale	1/3	OMIM:620712
4149	MAX	HP:0001635	Congestive heart failure	-	OMIM:171300
4149	MAX	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:29072
4149	MAX	HP:0001631	Atrial septal defect	1/1	OMIM:620712
4149	MAX	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:29072
4149	MAX	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:29072
4149	MAX	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:29072
4149	MAX	HP:0000518	Cataract	1/2	OMIM:620712
4149	MAX	HP:0000519	Developmental cataract	-	OMIM:171300
4149	MAX	HP:0000526	Aniridia	HP:0040284	ORPHA:29072
4149	MAX	HP:0001824	Weight loss	HP:0040282	ORPHA:29072
4149	MAX	HP:0001830	Postaxial foot polydactyly	3/3	OMIM:620712
4149	MAX	HP:0000568	Microphthalmia	1/2	OMIM:620712
4149	MAX	HP:0000567	Chorioretinal coloboma	1/2	OMIM:620712
4151	MB	HP:0003803	Type 1 muscle fiber predominance	8/14	OMIM:620286
4151	MB	HP:0000006	Autosomal dominant inheritance	-	OMIM:620286
4151	MB	HP:0008994	Proximal muscle weakness in lower limbs	14/14	OMIM:620286
4151	MB	HP:0002747	Respiratory insufficiency due to muscle weakness	9/14	OMIM:620286
4151	MB	HP:0003327	Axial muscle weakness	13/14	OMIM:620286
4151	MB	HP:0002015	Dysphagia	10/14	OMIM:620286
4151	MB	HP:0003581	Adult onset	14/14	OMIM:620286
4151	MB	HP:0003557	Increased variability in muscle fiber diameter	11/14	OMIM:620286
4151	MB	HP:0003687	Centrally nucleated skeletal muscle fibers	12/14	OMIM:620286
4151	MB	HP:0034722	Sarcoplasmic bodies	21/24	OMIM:620286
4151	MB	HP:0009005	Weakness of the intrinsic hand muscles	13/14	OMIM:620286
4151	MB	HP:0003236	Elevated circulating creatine kinase concentration	14/14	OMIM:620286
4151	MB	HP:0003202	Skeletal muscle atrophy	13/14	OMIM:620286
4151	MB	HP:0030319	Weakness of facial musculature	0/14	OMIM:620286
4153	MBL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614372
4153	MBL2	HP:0002742	Recurrent Klebsiella infections	-	OMIM:614372
4153	MBL2	HP:0001581	Recurrent skin infections	-	OMIM:614372
4153	MBL2	HP:0001508	Failure to thrive	-	OMIM:614372
4153	MBL2	HP:0005381	Recurrent meningococcal disease	-	OMIM:614372
4153	MBL2	HP:0005353	Recurrent herpes	-	OMIM:614372
4153	MBL2	HP:0031699	Disseminated cryptosporidium infection	-	OMIM:614372
4157	MC1R	HP:0001100	Heterochromia iridis	HP:0040282	ORPHA:79432
4157	MC1R	HP:0003764	Nevus	HP:0040281	ORPHA:618
4157	MC1R	HP:0012056	Cutaneous melanoma	HP:0040283	ORPHA:79432
4157	MC1R	HP:0007481	Hyperpigmented nevi	HP:0040284	ORPHA:79432
4157	MC1R	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:79432
4157	MC1R	HP:0000007	Autosomal recessive inheritance	-	OMIM:203200
4157	MC1R	HP:0007603	Freckles in sun-exposed areas	-	OMIM:203200
4157	MC1R	HP:0001480	Freckling	HP:0040282	ORPHA:618
4157	MC1R	HP:0001480	Freckling	HP:0040282	ORPHA:79432
4157	MC1R	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:79432
4157	MC1R	HP:0007663	Reduced visual acuity	-	OMIM:203200
4157	MC1R	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:618
4157	MC1R	HP:0002227	White eyelashes	HP:0040283	ORPHA:79432
4157	MC1R	HP:0002226	White eyebrow	HP:0040282	ORPHA:79432
4157	MC1R	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:618
4157	MC1R	HP:0002297	Red hair	-	OMIM:203200
4157	MC1R	HP:0200098	Absent skin pigmentation	HP:0040283	ORPHA:79432
4157	MC1R	HP:0001010	Hypopigmentation of the skin	-	OMIM:203200
4157	MC1R	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:79432
4157	MC1R	HP:0001022	Albinism	-	OMIM:203200
4157	MC1R	HP:0005599	Hypopigmentation of hair	-	OMIM:203200
4157	MC1R	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:79432
4157	MC1R	HP:0000639	Nystagmus	HP:0040282	ORPHA:79432
4157	MC1R	HP:0000639	Nystagmus	-	OMIM:203200
4157	MC1R	HP:0000635	Blue irides	-	OMIM:203200
4157	MC1R	HP:0000635	Blue irides	HP:0040282	ORPHA:79432
4157	MC1R	HP:0000613	Photophobia	HP:0040282	ORPHA:79432
4157	MC1R	HP:0011364	White hair	HP:0040282	ORPHA:79432
4157	MC1R	HP:0100013	Neoplasm of the breast	HP:0040283	ORPHA:618
4157	MC1R	HP:0012805	Iris transillumination defect	HP:0040282	ORPHA:79432
4157	MC1R	HP:0030856	Posterior staphyloma	HP:0040283	ORPHA:79432
4157	MC1R	HP:0000958	Dry skin	HP:0040282	ORPHA:618
4157	MC1R	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:79432
4157	MC1R	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:618
4157	MC1R	HP:0025551	Optic nerve misrouting	HP:0040282	ORPHA:79432
4157	MC1R	HP:0007750	Hypoplasia of the fovea	-	OMIM:203200
4157	MC1R	HP:0007750	Hypoplasia of the fovea	HP:0040282	ORPHA:79432
4157	MC1R	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:79432
4157	MC1R	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:618
4157	MC1R	HP:0002861	Melanoma	HP:0040281	ORPHA:618
4157	MC1R	HP:0007894	Hypopigmentation of the fundus	-	OMIM:203200
4157	MC1R	HP:0007988	Macular hypopigmentation	HP:0040282	ORPHA:79432
4157	MC1R	HP:0000486	Strabismus	-	OMIM:203200
4157	MC1R	HP:0000488	Retinopathy	HP:0040283	ORPHA:618
4157	MC1R	HP:0006753	Neoplasm of the stomach	HP:0040283	ORPHA:618
4157	MC1R	HP:0006739	Squamous cell carcinoma of the skin	HP:0040283	ORPHA:79432
4157	MC1R	HP:0000505	Visual impairment	-	OMIM:203200
4157	MC1R	HP:0000577	Exotropia	-	OMIM:203200
4157	MC1R	HP:0000539	Abnormality of refraction	HP:0040282	ORPHA:79432
4157	MC1R	HP:0000545	Myopia	-	OMIM:203200
4158	MC2R	HP:0002445	Tetraplegia	HP:0040284	ORPHA:361
4158	MC2R	HP:0001250	Seizure	-	OMIM:202200
4158	MC2R	HP:0001249	Intellectual disability	HP:0040284	ORPHA:361
4158	MC2R	HP:0001259	Coma	1/1	OMIM:202200
4158	MC2R	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:361
4158	MC2R	HP:0007440	Generalized hyperpigmentation	1/1	OMIM:202200
4158	MC2R	HP:0007440	Generalized hyperpigmentation	HP:0040281	ORPHA:361
4158	MC2R	HP:0031074	Abnormal response to ACTH stimulation test	1/1	OMIM:202200
4158	MC2R	HP:0031076	Impaired cortisol response to insulin stimulation test	HP:0040281	ORPHA:361
4158	MC2R	HP:0000098	Tall stature	-	OMIM:202200
4158	MC2R	HP:0000098	Tall stature	HP:0040283	ORPHA:361
4158	MC2R	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:361
4158	MC2R	HP:0000027	Azoospermia	HP:0040284	ORPHA:361
4158	MC2R	HP:0001325	Hypoglycemic coma	HP:0040284	ORPHA:361
4158	MC2R	HP:0000010	Recurrent urinary tract infections	HP:0040284	ORPHA:361
4158	MC2R	HP:0000007	Autosomal recessive inheritance	-	OMIM:202200
4158	MC2R	HP:0002615	Hypotension	HP:0040281	ORPHA:361
4158	MC2R	HP:0025451	Testicular adrenal rest tumor	HP:0040283	ORPHA:361
4158	MC2R	HP:0000127	Renal salt wasting	HP:0040282	ORPHA:361
4158	MC2R	HP:0031214	Decreased circulating dehydroepiandrosterone concentration	HP:0040281	ORPHA:361
4158	MC2R	HP:0002719	Recurrent infections	HP:0040282	ORPHA:361
4158	MC2R	HP:0002719	Recurrent infections	-	OMIM:202200
4158	MC2R	HP:0002019	Constipation	HP:0040282	ORPHA:361
4158	MC2R	HP:0002014	Diarrhea	HP:0040282	ORPHA:361
4158	MC2R	HP:0002013	Vomiting	HP:0040282	ORPHA:361
4158	MC2R	HP:0002039	Anorexia	HP:0040282	ORPHA:361
4158	MC2R	HP:0008163	Decreased circulating cortisol level	1/1	OMIM:202200
4158	MC2R	HP:0008163	Decreased circulating cortisol level	HP:0040280	ORPHA:361
4158	MC2R	HP:0002153	Hyperkalemia	HP:0040282	ORPHA:361
4158	MC2R	HP:0002173	Hypoglycemic seizures	HP:0040282	ORPHA:361
4158	MC2R	HP:0003577	Congenital onset	1/1	OMIM:202200
4158	MC2R	HP:0100618	Leydig cell neoplasia	HP:0040284	ORPHA:361
4158	MC2R	HP:0012605	Hypernatriuria	HP:0040282	ORPHA:361
4158	MC2R	HP:0001988	Recurrent hypoglycemia	1/1	OMIM:202200
4158	MC2R	HP:0004319	Decreased circulating aldosterone concentration	HP:0040283	ORPHA:361
4158	MC2R	HP:0005616	Accelerated skeletal maturation	-	OMIM:202200
4158	MC2R	HP:0012734	Ketotic hypoglycemia	HP:0040281	ORPHA:361
4158	MC2R	HP:0003154	Increased circulating ACTH level	1/1	OMIM:202200
4158	MC2R	HP:0000851	Congenital hypothyroidism	HP:0040284	ORPHA:361
4158	MC2R	HP:0000846	Adrenal insufficiency	HP:0040280	ORPHA:361
4158	MC2R	HP:0000826	Precocious puberty	HP:0040283	ORPHA:361
4158	MC2R	HP:0040084	Abnormal circulating renin concentration	0/1	OMIM:202200
4158	MC2R	HP:0040085	Abnormal circulating aldosterone concentration	0/1	OMIM:202200
4158	MC2R	HP:0000953	Hyperpigmentation of the skin	-	OMIM:202200
4158	MC2R	HP:0001508	Failure to thrive	HP:0040281	ORPHA:361
4158	MC2R	HP:0001508	Failure to thrive	-	OMIM:202200
4158	MC2R	HP:0011043	Abnormal circulating adrenocorticotropin concentration	HP:0040281	ORPHA:361
4158	MC2R	HP:0002902	Hyponatremia	HP:0040282	ORPHA:361
4158	MC2R	HP:0002960	Autoimmunity	-	ORPHA:361
4158	MC2R	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:361
4158	MC2R	HP:0012432	Chronic fatigue	HP:0040282	ORPHA:361
4158	MC2R	HP:0001824	Weight loss	HP:0040282	ORPHA:361
4160	MC4R	HP:0002591	Polyphagia	HP:0040281	ORPHA:71529
4160	MC4R	HP:0002591	Polyphagia	-	OMIM:618406
4160	MC4R	HP:0000098	Tall stature	-	OMIM:618406
4160	MC4R	HP:0000007	Autosomal recessive inheritance	-	OMIM:618406
4160	MC4R	HP:0000006	Autosomal dominant inheritance	-	OMIM:618406
4160	MC4R	HP:0008915	Childhood-onset truncal obesity	HP:0040282	ORPHA:71529
4160	MC4R	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:71529
4160	MC4R	HP:0002155	Hypertriglyceridemia	HP:0040283	ORPHA:71529
4160	MC4R	HP:0005616	Accelerated skeletal maturation	HP:0040282	ORPHA:71529
4160	MC4R	HP:0009126	Increased adipose tissue	HP:0040280	ORPHA:71529
4160	MC4R	HP:0000842	Hyperinsulinemia	HP:0040283	ORPHA:71529
4160	MC4R	HP:0000842	Hyperinsulinemia	-	OMIM:618406
4160	MC4R	HP:0000822	Hypertension	HP:0040283	ORPHA:71529
4160	MC4R	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:71529
4160	MC4R	HP:0001513	Obesity	-	OMIM:618406
4160	MC4R	HP:0001513	Obesity	HP:0040280	ORPHA:71529
4160	MC4R	HP:0011001	Increased bone mineral density	-	OMIM:618406
4163	MCC	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
4163	MCC	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
4163	MCC	HP:0005584	Renal cell carcinoma	-	OMIM:114500
4163	MCC	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
4163	MCC	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
4163	MCC	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
4163	MCC	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
4166	CHST6	HP:0001131	Corneal dystrophy	-	OMIM:217800
4166	CHST6	HP:0001141	Severely reduced visual acuity	HP:0040282	ORPHA:98969
4166	CHST6	HP:0000007	Autosomal recessive inheritance	-	OMIM:217800
4166	CHST6	HP:0012155	Decreased corneal sensation	HP:0040283	ORPHA:98969
4166	CHST6	HP:0200026	Ocular pain	HP:0040283	ORPHA:98969
4166	CHST6	HP:0100689	Decreased corneal thickness	HP:0040282	ORPHA:98969
4166	CHST6	HP:0003621	Juvenile onset	-	OMIM:217800
4166	CHST6	HP:0000613	Photophobia	HP:0040283	ORPHA:98969
4166	CHST6	HP:0000613	Photophobia	-	OMIM:217800
4166	CHST6	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:98969
4166	CHST6	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:217800
4166	CHST6	HP:0007759	Opacification of the corneal stroma	HP:0040281	ORPHA:98969
4166	CHST6	HP:0007754	Macular dystrophy	-	OMIM:217800
4166	CHST6	HP:0007856	Punctate opacification of the cornea	HP:0040281	ORPHA:98969
4166	CHST6	HP:0007856	Punctate opacification of the cornea	-	OMIM:217800
4166	CHST6	HP:0000484	Hyperopic astigmatism	HP:0040283	ORPHA:98969
4166	CHST6	HP:0000495	Recurrent corneal erosions	-	OMIM:217800
4166	CHST6	HP:0000495	Recurrent corneal erosions	HP:0040282	ORPHA:98969
4166	CHST6	HP:0000531	Corneal crystals	HP:0040281	ORPHA:98969
4171	MCM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616968
4171	MCM2	HP:0003581	Adult onset	-	OMIM:616968
4171	MCM2	HP:0003677	Slowly progressive	-	OMIM:616968
4171	MCM2	HP:0003621	Juvenile onset	-	OMIM:616968
4171	MCM2	HP:0000408	Progressive sensorineural hearing impairment	8/8	OMIM:616968
4171	MCM2	HP:0001751	Abnormal vestibular function	0/8	OMIM:616968
4173	MCM4	HP:0008897	Postnatal growth retardation	-	OMIM:609981
4173	MCM4	HP:0000007	Autosomal recessive inheritance	-	OMIM:609981
4173	MCM4	HP:0002716	Lymphadenopathy	-	OMIM:609981
4173	MCM4	HP:0002093	Respiratory insufficiency	HP:0040283	OMIM:609981
4173	MCM4	HP:0011749	Adrenocorticotropic hormone excess	-	OMIM:609981
4173	MCM4	HP:0002240	Hepatomegaly	-	OMIM:609981
4173	MCM4	HP:0002205	Recurrent respiratory infections	1/7	OMIM:609981
4173	MCM4	HP:0005523	Lymphoproliferative disorder	-	OMIM:609981
4173	MCM4	HP:0011342	Mild global developmental delay	5/6	OMIM:609981
4173	MCM4	HP:0004322	Short stature	5/6	OMIM:609981
4173	MCM4	HP:0011410	Caesarean section	5/6	OMIM:609981
4173	MCM4	HP:0004429	Recurrent viral infections	6/6	OMIM:609981
4173	MCM4	HP:0000846	Adrenal insufficiency	6/6	OMIM:609981
4173	MCM4	HP:0040012	Chromosome breakage	-	OMIM:609981
4173	MCM4	HP:0040218	Reduced total natural killer cell count	6/6	OMIM:609981
4173	MCM4	HP:0000953	Hyperpigmentation of the skin	5/8	OMIM:609981
4173	MCM4	HP:0000252	Microcephaly	3/4	OMIM:609981
4173	MCM4	HP:0002878	Respiratory failure	HP:0040283	OMIM:609981
4173	MCM4	HP:0001508	Failure to thrive	5/8	OMIM:609981
4173	MCM4	HP:0001511	Intrauterine growth retardation	6/6	OMIM:609981
4173	MCM4	HP:0001744	Splenomegaly	-	OMIM:609981
4174	MCM5	HP:0008551	Microtia	1/1	OMIM:617564
4174	MCM5	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4174	MCM5	HP:0001293	Cranial nerve compression	-	OMIM:131300
4174	MCM5	HP:0001252	Hypotonia	2/7	OMIM:615777
4174	MCM5	HP:0001249	Intellectual disability	5/7	OMIM:615777
4174	MCM5	HP:0001263	Global developmental delay	-	OMIM:615777
4174	MCM5	HP:0008689	Bilateral cryptorchidism	1/1	OMIM:617564
4174	MCM5	HP:0002515	Waddling gait	54/102	OMIM:131300
4174	MCM5	HP:0001382	Joint hypermobility	-	OMIM:615777
4174	MCM5	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4174	MCM5	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4174	MCM5	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4174	MCM5	HP:0001324	Muscle weakness	40/96	OMIM:131300
4174	MCM5	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4174	MCM5	HP:0000007	Autosomal recessive inheritance	-	OMIM:617564
4174	MCM5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4174	MCM5	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4174	MCM5	HP:0002650	Scoliosis	12/14	OMIM:131300
4174	MCM5	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4174	MCM5	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4174	MCM5	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4174	MCM5	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4174	MCM5	HP:0000160	Narrow mouth	1/1	OMIM:617564
4174	MCM5	HP:0000175	Cleft palate	2/7	OMIM:615777
4174	MCM5	HP:0003388	Easy fatigability	36/76	OMIM:131300
4174	MCM5	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4174	MCM5	HP:0003593	Infantile onset	1/1	OMIM:617564
4174	MCM5	HP:0003510	Severe short stature	7/7	OMIM:615777
4174	MCM5	HP:0002315	Headache	-	OMIM:131300
4174	MCM5	HP:0004976	Knee dislocation	6/7	OMIM:615777
4174	MCM5	HP:0009803	Short phalanx of finger	-	OMIM:615777
4174	MCM5	HP:0009763	Limb pain	63/92	OMIM:131300
4174	MCM5	HP:0003621	Juvenile onset	-	OMIM:131300
4174	MCM5	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4174	MCM5	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4174	MCM5	HP:6001056	Out-toeing	-	OMIM:131300
4174	MCM5	HP:0000651	Diplopia	-	OMIM:131300
4174	MCM5	HP:0001956	Truncal obesity	2/7	OMIM:615777
4174	MCM5	HP:0001903	Anemia	HP:0040283	OMIM:131300
4174	MCM5	HP:0010049	Short metacarpal	-	OMIM:615777
4174	MCM5	HP:0000678	Dental crowding	-	OMIM:615777
4174	MCM5	HP:0000670	Carious teeth	-	OMIM:131300
4174	MCM5	HP:0011304	Broad thumb	2/7	OMIM:615777
4174	MCM5	HP:0000668	Hypodontia	-	OMIM:615777
4174	MCM5	HP:0000664	Synophrys	-	OMIM:615777
4174	MCM5	HP:0004325	Decreased body weight	1/1	OMIM:617564
4174	MCM5	HP:0004396	Poor appetite	-	OMIM:131300
4174	MCM5	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4174	MCM5	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4174	MCM5	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4174	MCM5	HP:0003026	Short long bone	7/7	OMIM:615777
4174	MCM5	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4174	MCM5	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4174	MCM5	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4174	MCM5	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4174	MCM5	HP:0000750	Delayed speech and language development	-	OMIM:615777
4174	MCM5	HP:0011461	Fetal onset	7/7	OMIM:615777
4174	MCM5	HP:0000774	Narrow chest	2/7	OMIM:615777
4174	MCM5	HP:0000926	Platyspondyly	1/7	OMIM:615777
4174	MCM5	HP:0003180	Flat acetabular roof	-	OMIM:615777
4174	MCM5	HP:0004482	Relative macrocephaly	-	OMIM:615777
4174	MCM5	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4174	MCM5	HP:0000823	Delayed puberty	-	OMIM:131300
4174	MCM5	HP:0000894	Short clavicles	-	OMIM:615777
4174	MCM5	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4174	MCM5	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4174	MCM5	HP:0000286	Epicanthus	1/7	OMIM:615777
4174	MCM5	HP:0000280	Coarse facial features	2/7	OMIM:615777
4174	MCM5	HP:0002827	Hip dislocation	3/7	OMIM:615777
4174	MCM5	HP:0000252	Microcephaly	-	OMIM:615777
4174	MCM5	HP:0002857	Genu valgum	-	OMIM:131300
4174	MCM5	HP:0001533	Slender build	-	OMIM:131300
4174	MCM5	HP:0001511	Intrauterine growth retardation	1/1	OMIM:617564
4174	MCM5	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4174	MCM5	HP:0007807	Optic nerve compression	-	OMIM:131300
4174	MCM5	HP:0012368	Flat face	7/7	OMIM:615777
4174	MCM5	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4174	MCM5	HP:0000365	Hearing impairment	10/67	OMIM:131300
4174	MCM5	HP:0000369	Low-set ears	1/1	OMIM:617564
4174	MCM5	HP:0000343	Long philtrum	1/7	OMIM:615777
4174	MCM5	HP:0011001	Increased bone mineral density	-	OMIM:131300
4174	MCM5	HP:0000347	Micrognathia	1/1	OMIM:617564
4174	MCM5	HP:0000311	Round face	2/7	OMIM:615777
4174	MCM5	HP:0002970	Genu varum	-	OMIM:615777
4174	MCM5	HP:0000303	Mandibular prognathia	-	OMIM:131300
4174	MCM5	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4174	MCM5	HP:0012471	Thick vermilion border	1/1	OMIM:617564
4174	MCM5	HP:0011126	Nephroptosis	1/1	OMIM:617564
4174	MCM5	HP:0000470	Short neck	1/7	OMIM:615777
4174	MCM5	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4174	MCM5	HP:0001763	Pes planus	1/7	OMIM:615777
4174	MCM5	HP:0001840	Metatarsus adductus	-	OMIM:615777
4174	MCM5	HP:0000520	Proptosis	2/4	OMIM:131300
4174	MCM5	HP:0000520	Proptosis	7/7	OMIM:615777
4174	MCM5	HP:0012583	Unilateral renal hypoplasia	1/1	OMIM:617564
4174	MCM5	HP:0000592	Blue sclerae	2/7	OMIM:615777
4174	MCM5	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4174	MCM5	HP:0012514	Lower limb pain	4/4	OMIM:131300
4175	MCM6	HP:0025130	Decreased small intestinal mucosa lactase level	-	OMIM:223100
4175	MCM6	HP:0033589	Flatulence	-	OMIM:223100
4175	MCM6	HP:0000006	Autosomal dominant inheritance	-	OMIM:223100
4175	MCM6	HP:0002027	Abdominal pain	-	OMIM:223100
4175	MCM6	HP:0002014	Diarrhea	-	OMIM:223100
4175	MCM6	HP:0004789	Lactose intolerance	-	OMIM:223100
4175	MCM6	HP:0003621	Juvenile onset	-	OMIM:223100
4175	MCM6	HP:0011463	Childhood onset	-	OMIM:223100
4175	MCM6	HP:0011462	Young adult onset	-	OMIM:223100
4176	MCM7	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
4176	MCM7	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
4176	MCM7	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
4176	MCM7	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
4176	MCM7	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
4176	MCM7	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
4176	MCM7	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
4176	MCM7	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
4176	MCM7	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
4176	MCM7	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
4176	MCM7	HP:0004322	Short stature	HP:0040281	ORPHA:2512
4176	MCM7	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
4176	MCM7	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
4176	MCM7	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
4176	MCM7	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
4176	MCM7	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
4176	MCM7	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
4179	CD46	HP:0007430	Generalized edema	HP:0040282	ORPHA:244242
4179	CD46	HP:0000093	Proteinuria	-	OMIM:612922
4179	CD46	HP:0000093	Proteinuria	HP:0040282	ORPHA:244242
4179	CD46	HP:0001342	Cerebral hemorrhage	HP:0040284	ORPHA:244242
4179	CD46	HP:0000007	Autosomal recessive inheritance	-	OMIM:612922
4179	CD46	HP:0000006	Autosomal dominant inheritance	-	OMIM:612922
4179	CD46	HP:0002615	Hypotension	HP:0040283	ORPHA:244242
4179	CD46	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:244242
4179	CD46	HP:0410019	Epigastric pain	HP:0040283	ORPHA:244242
4179	CD46	HP:0002018	Nausea	HP:0040283	ORPHA:244242
4179	CD46	HP:0002027	Abdominal pain	HP:0040283	ORPHA:244242
4179	CD46	HP:0002013	Vomiting	HP:0040283	ORPHA:244242
4179	CD46	HP:0100519	Anuria	-	OMIM:612922
4179	CD46	HP:0100598	Pulmonary edema	HP:0040283	ORPHA:244242
4179	CD46	HP:0008151	Prolonged prothrombin time	HP:0040282	ORPHA:244242
4179	CD46	HP:0003418	Back pain	HP:0040283	ORPHA:244242
4179	CD46	HP:0011900	Hypofibrinogenemia	HP:0040282	ORPHA:244242
4179	CD46	HP:0002202	Pleural effusion	HP:0040283	ORPHA:244242
4179	CD46	HP:0001058	Poor wound healing	HP:0040283	ORPHA:244242
4179	CD46	HP:0002315	Headache	HP:0040282	ORPHA:244242
4179	CD46	HP:0100601	Eclampsia	HP:0040283	ORPHA:244242
4179	CD46	HP:0100602	Preeclampsia	HP:0040282	ORPHA:244242
4179	CD46	HP:0003641	Hemoglobinuria	HP:0040283	ORPHA:244242
4179	CD46	HP:0003621	Juvenile onset	1/2	OMIM:612922
4179	CD46	HP:0005521	Disseminated intravascular coagulation	HP:0040283	ORPHA:244242
4179	CD46	HP:0005575	Hemolytic-uremic syndrome	2/2	OMIM:612922
4179	CD46	HP:0001937	Microangiopathic hemolytic anemia	HP:0040283	ORPHA:244242
4179	CD46	HP:0001937	Microangiopathic hemolytic anemia	2/2	OMIM:612922
4179	CD46	HP:0001903	Anemia	-	OMIM:612922
4179	CD46	HP:0001919	Acute kidney injury	2/2	OMIM:612922
4179	CD46	HP:0001919	Acute kidney injury	HP:0040284	ORPHA:244242
4179	CD46	HP:0004324	Increased body weight	HP:0040282	ORPHA:244242
4179	CD46	HP:0011419	Placental abruption	HP:0040283	ORPHA:244242
4179	CD46	HP:0011463	Childhood onset	1/2	OMIM:612922
4179	CD46	HP:0000790	Hematuria	-	OMIM:612922
4179	CD46	HP:0003138	Increased blood urea nitrogen	-	OMIM:612922
4179	CD46	HP:0000822	Hypertension	HP:0040282	OMIM:612922
4179	CD46	HP:0030834	Shoulder pain	HP:0040283	ORPHA:244242
4179	CD46	HP:0003259	Elevated circulating creatinine concentration	-	OMIM:612922
4179	CD46	HP:0008071	Maternal hypertension	HP:0040282	ORPHA:244242
4179	CD46	HP:0025547	Decreased mean corpuscular hemoglobin concentration	HP:0040283	ORPHA:244242
4179	CD46	HP:0012378	Fatigue	HP:0040282	ORPHA:244242
4179	CD46	HP:0011029	Internal hemorrhage	HP:0040284	ORPHA:244242
4179	CD46	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040280	ORPHA:244242
4179	CD46	HP:0005421	Decreased circulating complement C3 concentration	1/2	OMIM:612922
4179	CD46	HP:0001878	Hemolytic anemia	HP:0040281	ORPHA:244242
4179	CD46	HP:0001873	Thrombocytopenia	-	OMIM:612922
4179	CD46	HP:0001873	Thrombocytopenia	HP:0040280	ORPHA:244242
4190	MDH1	HP:0500149	Hyperglutamatemia	-	OMIM:618959
4190	MDH1	HP:0001276	Hypertonia	-	OMIM:618959
4190	MDH1	HP:0001250	Seizure	-	OMIM:618959
4190	MDH1	HP:0001263	Global developmental delay	-	OMIM:618959
4190	MDH1	HP:0100876	Infra-orbital crease	-	OMIM:618959
4190	MDH1	HP:0002521	Hypsarrhythmia	-	OMIM:618959
4190	MDH1	HP:0001338	Partial agenesis of the corpus callosum	-	OMIM:618959
4190	MDH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618959
4190	MDH1	HP:0008936	Axial hypotonia	-	OMIM:618959
4190	MDH1	HP:0012110	Hypoplasia of the pons	-	OMIM:618959
4190	MDH1	HP:0200134	Epileptic encephalopathy	-	OMIM:618959
4190	MDH1	HP:0007068	Inferior cerebellar vermis hypoplasia	-	OMIM:618959
4190	MDH1	HP:0000253	Progressive microcephaly	-	OMIM:618959
4190	MDH1	HP:0000232	Everted lower lip vermilion	-	OMIM:618959
4190	MDH1	HP:0001510	Growth delay	-	OMIM:618959
4190	MDH1	HP:0000348	High forehead	-	OMIM:618959
4190	MDH1	HP:0005280	Depressed nasal bridge	-	OMIM:618959
4191	MDH2	HP:0002490	Increased CSF lactate	2/2	OMIM:617339
4191	MDH2	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:29072
4191	MDH2	HP:0007256	Abnormal pyramidal sign	2/3	OMIM:617339
4191	MDH2	HP:0002421	Poor head control	3/3	OMIM:617339
4191	MDH2	HP:0025269	Panic attack	HP:0040283	ORPHA:29072
4191	MDH2	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:29072
4191	MDH2	HP:0001272	Cerebellar atrophy	1/3	OMIM:617339
4191	MDH2	HP:0001250	Seizure	3/3	OMIM:617339
4191	MDH2	HP:0001252	Hypotonia	3/3	OMIM:617339
4191	MDH2	HP:0001265	Hyporeflexia	1/3	OMIM:617339
4191	MDH2	HP:0001263	Global developmental delay	3/3	OMIM:617339
4191	MDH2	HP:0002558	Supernumerary nipple	1/3	OMIM:617339
4191	MDH2	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:29072
4191	MDH2	HP:0007371	Corpus callosum atrophy	1/3	OMIM:617339
4191	MDH2	HP:0007359	Focal-onset seizure	1/3	OMIM:617339
4191	MDH2	HP:0002540	Inability to walk	-	OMIM:617339
4191	MDH2	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:29072
4191	MDH2	HP:0000093	Proteinuria	HP:0040282	ORPHA:29072
4191	MDH2	HP:0025336	Delayed ability to sit	3/3	OMIM:617339
4191	MDH2	HP:0001332	Dystonia	2/3	OMIM:617339
4191	MDH2	HP:0001324	Muscle weakness	3/3	OMIM:617339
4191	MDH2	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:29072
4191	MDH2	HP:0001344	Absent speech	2/2	OMIM:617339
4191	MDH2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617339
4191	MDH2	HP:0002668	Paraganglioma	HP:0040281	ORPHA:29072
4191	MDH2	HP:0001337	Tremor	HP:0040283	ORPHA:29072
4191	MDH2	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:29072
4191	MDH2	HP:0031284	Flushing	HP:0040282	ORPHA:29072
4191	MDH2	HP:0002018	Nausea	HP:0040282	ORPHA:29072
4191	MDH2	HP:0002019	Constipation	2/3	OMIM:617339
4191	MDH2	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:29072
4191	MDH2	HP:0033128	Delayed ability to crawl	3/3	OMIM:617339
4191	MDH2	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:29072
4191	MDH2	HP:0003487	Babinski sign	2/3	OMIM:617339
4191	MDH2	HP:0002151	Increased circulating lactate concentration	3/3	OMIM:617339
4191	MDH2	HP:0002120	Cerebral cortical atrophy	2/3	OMIM:617339
4191	MDH2	HP:0002188	Delayed CNS myelination	2/3	OMIM:617339
4191	MDH2	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:29072
4191	MDH2	HP:0003593	Infantile onset	1/3	OMIM:617339
4191	MDH2	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:29072
4191	MDH2	HP:0003528	Elevated circulating calcitonin concentration	HP:0040283	ORPHA:29072
4191	MDH2	HP:0200134	Epileptic encephalopathy	-	OMIM:617339
4191	MDH2	HP:0009711	Retinal capillary hemangioma	HP:0040283	ORPHA:29072
4191	MDH2	HP:0100749	Chest pain	HP:0040282	ORPHA:29072
4191	MDH2	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:29072
4191	MDH2	HP:0011968	Feeding difficulties	-	OMIM:617339
4191	MDH2	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:29072
4191	MDH2	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:29072
4191	MDH2	HP:0100660	Dyskinesia	1/3	OMIM:617339
4191	MDH2	HP:0010818	Generalized tonic seizure	2/3	OMIM:617339
4191	MDH2	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:29072
4191	MDH2	HP:0003623	Neonatal onset	2/3	OMIM:617339
4191	MDH2	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:29072
4191	MDH2	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:29072
4191	MDH2	HP:0001962	Palpitations	HP:0040282	ORPHA:29072
4191	MDH2	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:29072
4191	MDH2	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:29072
4191	MDH2	HP:0000790	Hematuria	HP:0040283	ORPHA:29072
4191	MDH2	HP:0000817	Reduced eye contact	1/3	OMIM:617339
4191	MDH2	HP:0003202	Skeletal muscle atrophy	-	OMIM:617339
4191	MDH2	HP:0000980	Pallor	HP:0040283	ORPHA:29072
4191	MDH2	HP:0012222	Arachnoid hemangiomatosis	HP:0040283	ORPHA:29072
4191	MDH2	HP:0032653	Elevated lactate:pyruvate ratio	3/3	OMIM:617339
4191	MDH2	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:29072
4191	MDH2	HP:0001508	Failure to thrive	2/3	OMIM:617339
4191	MDH2	HP:0011097	Epileptic spasm	1/3	OMIM:617339
4191	MDH2	HP:0012378	Fatigue	HP:0040282	ORPHA:29072
4191	MDH2	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:29072
4191	MDH2	HP:0001618	Dysphonia	HP:0040282	ORPHA:29072
4191	MDH2	HP:0032794	Myoclonic seizure	1/3	OMIM:617339
4191	MDH2	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:29072
4191	MDH2	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:29072
4191	MDH2	HP:0000486	Strabismus	2/3	OMIM:617339
4191	MDH2	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:29072
4191	MDH2	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:29072
4191	MDH2	HP:0000510	Rod-cone dystrophy	1/3	OMIM:617339
4191	MDH2	HP:0000526	Aniridia	HP:0040284	ORPHA:29072
4191	MDH2	HP:0001824	Weight loss	HP:0040282	ORPHA:29072
4193	MDM2	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:99971
4193	MDM2	HP:0007378	Neoplasm of the gastrointestinal tract	HP:0040283	ORPHA:524
4193	MDM2	HP:0000089	Renal hypoplasia	1/1	OMIM:618681
4193	MDM2	HP:0000083	Renal insufficiency	1/1	OMIM:618681
4193	MDM2	HP:0002664	Neoplasm	HP:0040281	ORPHA:524
4193	MDM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618681
4193	MDM2	HP:0002669	Osteosarcoma	HP:0040283	ORPHA:524
4193	MDM2	HP:0002665	Lymphoma	HP:0040283	ORPHA:524
4193	MDM2	HP:0012189	Hodgkin lymphoma	HP:0040284	ORPHA:524
4193	MDM2	HP:0012174	Glioblastoma multiforme	HP:0040283	ORPHA:524
4193	MDM2	HP:0000160	Narrow mouth	1/1	OMIM:618681
4193	MDM2	HP:0012125	Prostate cancer	HP:0040284	ORPHA:524
4193	MDM2	HP:0012126	Stomach cancer	HP:0040283	ORPHA:524
4193	MDM2	HP:0000135	Hypogonadism	1/1	OMIM:618681
4193	MDM2	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:99971
4193	MDM2	HP:0100526	Neoplasm of the lung	HP:0040284	ORPHA:524
4193	MDM2	HP:0009592	Astrocytoma	HP:0040283	ORPHA:524
4193	MDM2	HP:0002216	Premature graying of hair	1/1	OMIM:618681
4193	MDM2	HP:0002225	Sparse pubic hair	1/1	OMIM:618681
4193	MDM2	HP:0100768	Choriocarcinoma	HP:0040284	ORPHA:524
4193	MDM2	HP:0009726	Renal neoplasm	HP:0040284	ORPHA:524
4193	MDM2	HP:0100743	Neoplasm of the rectum	HP:0040284	ORPHA:524
4193	MDM2	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:524
4193	MDM2	HP:0100605	Neoplasm of the larynx	HP:0040284	ORPHA:524
4193	MDM2	HP:0200063	Colorectal polyposis	HP:0040283	ORPHA:524
4193	MDM2	HP:0100615	Ovarian neoplasm	HP:0040284	ORPHA:524
4193	MDM2	HP:0010788	Testicular neoplasm	HP:0040284	ORPHA:524
4193	MDM2	HP:0001909	Leukemia	HP:0040283	ORPHA:524
4193	MDM2	HP:0004322	Short stature	1/1	OMIM:618681
4193	MDM2	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:524
4193	MDM2	HP:0003003	Colon cancer	HP:0040284	ORPHA:524
4193	MDM2	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:524
4193	MDM2	HP:0000822	Hypertension	1/1	OMIM:618681
4193	MDM2	HP:0012288	Neoplasm of head and neck	HP:0040284	ORPHA:524
4193	MDM2	HP:0030070	Central primitive neuroectodermal tumor	HP:0040283	ORPHA:524
4193	MDM2	HP:0012211	Abnormal renal physiology	HP:0040283	ORPHA:99971
4193	MDM2	HP:0002894	Neoplasm of the pancreas	HP:0040284	ORPHA:524
4193	MDM2	HP:0002890	Thyroid carcinoma	HP:0040284	ORPHA:524
4193	MDM2	HP:0002888	Ependymoma	HP:0040283	ORPHA:524
4193	MDM2	HP:0002885	Medulloblastoma	HP:0040284	ORPHA:524
4193	MDM2	HP:0002861	Melanoma	HP:0040284	ORPHA:524
4193	MDM2	HP:0002859	Rhabdomyosarcoma	HP:0040283	ORPHA:524
4193	MDM2	HP:0002863	Myelodysplasia	HP:0040284	ORPHA:524
4193	MDM2	HP:0001620	Abnormally high-pitched voice	1/1	OMIM:618681
4193	MDM2	HP:0000446	Narrow nasal bridge	1/1	OMIM:618681
4193	MDM2	HP:0006744	Adrenocortical carcinoma	HP:0040283	ORPHA:524
4193	MDM2	HP:0006721	Acute lymphoblastic leukemia	HP:0040284	ORPHA:524
4193	MDM2	HP:0012539	Non-Hodgkin lymphoma	HP:0040284	ORPHA:524
4193	MDM2	HP:0030392	Choroid plexus carcinoma	HP:0040283	ORPHA:524
4194	MDM4	HP:0000006	Autosomal dominant inheritance	-	OMIM:618849
4194	MDM4	HP:0003326	Myalgia	2/4	OMIM:618849
4194	MDM4	HP:0011904	Persistence of hemoglobin F	2/4	OMIM:618849
4194	MDM4	HP:0005528	Bone marrow hypocellularity	3/3	OMIM:618849
4194	MDM4	HP:0005518	Increased mean corpuscular volume	2/4	OMIM:618849
4194	MDM4	HP:0001903	Anemia	-	OMIM:618849
4194	MDM4	HP:0000821	Hypothyroidism	1/4	OMIM:618849
4194	MDM4	HP:0000938	Osteopenia	1/4	OMIM:618849
4194	MDM4	HP:0031413	Short telomere length	-	OMIM:618849
4194	MDM4	HP:0011108	Recurrent sinusitis	1/4	OMIM:618849
4194	MDM4	HP:0012432	Chronic fatigue	2/4	OMIM:618849
4194	MDM4	HP:0030413	Squamous cell carcinoma of the tongue	1/4	OMIM:618849
4194	MDM4	HP:0001888	Decreased total lymphocyte count	-	OMIM:618849
4194	MDM4	HP:0001875	Decreased total neutrophil count	-	OMIM:618849
4204	MECP2	HP:0002490	Increased CSF lactate	HP:0040283	ORPHA:778
4204	MECP2	HP:0003781	Excessive salivation	-	OMIM:300055
4204	MECP2	HP:0001118	Juvenile cataract	1/2	OMIM:300055
4204	MECP2	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:3095
4204	MECP2	HP:0007302	Bipolar affective disorder	HP:0040282	ORPHA:3077
4204	MECP2	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
4204	MECP2	HP:0007281	Developmental stagnation	HP:0040283	ORPHA:3095
4204	MECP2	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:1762
4204	MECP2	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:3077
4204	MECP2	HP:0010864	Intellectual disability, severe	-	OMIM:300673
4204	MECP2	HP:0010864	Intellectual disability, severe	1/1	OMIM:300055
4204	MECP2	HP:0010864	Intellectual disability, severe	26/26	OMIM:300260
4204	MECP2	HP:0003763	Bruxism	HP:0040282	ORPHA:778
4204	MECP2	HP:0003763	Bruxism	1/2	OMIM:300055
4204	MECP2	HP:0003763	Bruxism	7/10	OMIM:300260
4204	MECP2	HP:0003763	Bruxism	-	OMIM:312750
4204	MECP2	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
4204	MECP2	HP:0001298	Encephalopathy	1/1	OMIM:300673
4204	MECP2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:209370
4204	MECP2	HP:0001297	Stroke	HP:0040283	ORPHA:3077
4204	MECP2	HP:0025269	Panic attack	HP:0040283	ORPHA:3095
4204	MECP2	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
4204	MECP2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:1762
4204	MECP2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:3095
4204	MECP2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:778
4204	MECP2	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:3095
4204	MECP2	HP:0001256	Intellectual disability, mild	2/2	OMIM:300055
4204	MECP2	HP:0001250	Seizure	HP:0040282	ORPHA:778
4204	MECP2	HP:0001250	Seizure	1/1	OMIM:312750
4204	MECP2	HP:0001250	Seizure	1/1	OMIM:300055
4204	MECP2	HP:0001250	Seizure	HP:0040282	OMIM:300496
4204	MECP2	HP:0001250	Seizure	HP:0040283	ORPHA:536
4204	MECP2	HP:0001250	Seizure	HP:0040282	ORPHA:209370
4204	MECP2	HP:0001250	Seizure	HP:0040281	ORPHA:3095
4204	MECP2	HP:0001250	Seizure	HP:0040281	ORPHA:3077
4204	MECP2	HP:0001250	Seizure	-	OMIM:300673
4204	MECP2	HP:0001250	Seizure	14/30	OMIM:300260
4204	MECP2	HP:0001252	Hypotonia	HP:0040282	ORPHA:3095
4204	MECP2	HP:0001252	Hypotonia	1/1	OMIM:300260
4204	MECP2	HP:0001251	Ataxia	-	OMIM:300055
4204	MECP2	HP:0001251	Ataxia	-	OMIM:300260
4204	MECP2	HP:0001249	Intellectual disability	5/5	OMIM:300055
4204	MECP2	HP:0001249	Intellectual disability	-	OMIM:300496
4204	MECP2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3095
4204	MECP2	HP:0001266	Choreoathetosis	1/2	OMIM:300055
4204	MECP2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:778
4204	MECP2	HP:0001263	Global developmental delay	3/3	OMIM:300055
4204	MECP2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1762
4204	MECP2	HP:0001263	Global developmental delay	-	OMIM:300673
4204	MECP2	HP:0001263	Global developmental delay	7/7	OMIM:300260
4204	MECP2	HP:0001258	Spastic paraplegia	2/2	OMIM:300055
4204	MECP2	HP:0001257	Spasticity	HP:0040282	ORPHA:3095
4204	MECP2	HP:0001257	Spasticity	-	OMIM:312750
4204	MECP2	HP:0001257	Spasticity	HP:0040282	ORPHA:209370
4204	MECP2	HP:0001239	Wrist flexion contracture	1/1	OMIM:300055
4204	MECP2	HP:0008762	Repetitive compulsive behavior	9/9	OMIM:300260
4204	MECP2	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
4204	MECP2	HP:0100852	Abnormal fear-induced behavior	HP:0040283	ORPHA:3077
4204	MECP2	HP:0002540	Inability to walk	HP:0040282	ORPHA:3095
4204	MECP2	HP:0002540	Inability to walk	HP:0040283	ORPHA:778
4204	MECP2	HP:0002540	Inability to walk	8/19	OMIM:300260
4204	MECP2	HP:0002510	Spastic tetraplegia	1/1	OMIM:300055
4204	MECP2	HP:0002505	Loss of ambulation	HP:0040282	ORPHA:3095
4204	MECP2	HP:0500231	Abnormal CSF pyruvate family amino acid concentration	HP:0040283	ORPHA:778
4204	MECP2	HP:0003808	Abnormal muscle tone	HP:0040282	ORPHA:3095
4204	MECP2	HP:0003808	Abnormal muscle tone	HP:0040282	ORPHA:778
4204	MECP2	HP:0025387	Pill-rolling tremor	HP:0040283	ORPHA:3095
4204	MECP2	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
4204	MECP2	HP:0001371	Flexion contracture	1/1	OMIM:300055
4204	MECP2	HP:0025336	Delayed ability to sit	1/1	OMIM:300055
4204	MECP2	HP:0025336	Delayed ability to sit	6/6	OMIM:300260
4204	MECP2	HP:0001369	Arthritis	HP:0040282	ORPHA:536
4204	MECP2	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1762
4204	MECP2	HP:0000053	Macroorchidism	-	OMIM:300055
4204	MECP2	HP:0000053	Macroorchidism	HP:0040281	ORPHA:3077
4204	MECP2	HP:0000047	Hypospadias	HP:0040281	ORPHA:1762
4204	MECP2	HP:0000047	Hypospadias	1/7	OMIM:300260
4204	MECP2	HP:0001347	Hyperreflexia	-	OMIM:300673
4204	MECP2	HP:0001347	Hyperreflexia	-	OMIM:300055
4204	MECP2	HP:0033834	Malaise	HP:0040281	ORPHA:536
4204	MECP2	HP:0000026	Male hypogonadism	1/5	OMIM:300055
4204	MECP2	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:1762
4204	MECP2	HP:0000028	Cryptorchidism	5/17	OMIM:300260
4204	MECP2	HP:0008872	Feeding difficulties in infancy	-	OMIM:300673
4204	MECP2	HP:0012085	Pyuria	HP:0040282	ORPHA:536
4204	MECP2	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
4204	MECP2	HP:0001332	Dystonia	HP:0040282	ORPHA:3095
4204	MECP2	HP:0001332	Dystonia	HP:0040282	ORPHA:778
4204	MECP2	HP:0001332	Dystonia	-	OMIM:312750
4204	MECP2	HP:0001332	Dystonia	1/1	OMIM:300055
4204	MECP2	HP:0025300	Malar rash	HP:0040282	ORPHA:536
4204	MECP2	HP:0001344	Absent speech	HP:0040281	ORPHA:778
4204	MECP2	HP:0001344	Absent speech	3/3	OMIM:300055
4204	MECP2	HP:0001344	Absent speech	22/25	OMIM:300260
4204	MECP2	HP:0001337	Tremor	HP:0040283	ORPHA:3095
4204	MECP2	HP:0001337	Tremor	HP:0040282	ORPHA:3077
4204	MECP2	HP:0001337	Tremor	1/5	OMIM:300055
4204	MECP2	HP:0001336	Myoclonus	-	OMIM:300673
4204	MECP2	HP:0002650	Scoliosis	HP:0040283	ORPHA:778
4204	MECP2	HP:0002650	Scoliosis	-	OMIM:312750
4204	MECP2	HP:0002650	Scoliosis	HP:0040283	ORPHA:3095
4204	MECP2	HP:0002650	Scoliosis	1/1	OMIM:300055
4204	MECP2	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:3095
4204	MECP2	HP:0001300	Parkinsonism	-	OMIM:300055
4204	MECP2	HP:0001300	Parkinsonism	HP:0040283	ORPHA:3077
4204	MECP2	HP:0012171	Stereotypical hand wringing	HP:0040281	ORPHA:3095
4204	MECP2	HP:0012171	Stereotypical hand wringing	3/3	OMIM:312750
4204	MECP2	HP:0012171	Stereotypical hand wringing	HP:0040281	ORPHA:778
4204	MECP2	HP:0000164	Abnormality of the dentition	-	OMIM:312750
4204	MECP2	HP:0000160	Narrow mouth	-	OMIM:300260
4204	MECP2	HP:0025430	High-pitched cry	HP:0040281	ORPHA:778
4204	MECP2	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
4204	MECP2	HP:0008947	Floppy infant	HP:0040283	ORPHA:778
4204	MECP2	HP:0008947	Floppy infant	7/7	OMIM:300260
4204	MECP2	HP:0008936	Axial hypotonia	-	OMIM:300673
4204	MECP2	HP:0008936	Axial hypotonia	1/1	OMIM:300055
4204	MECP2	HP:0008936	Axial hypotonia	8/9	OMIM:300260
4204	MECP2	HP:0008935	Generalized neonatal hypotonia	HP:0040282	ORPHA:209370
4204	MECP2	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:3095
4204	MECP2	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:778
4204	MECP2	HP:0033850	Coldness	HP:0040282	ORPHA:778
4204	MECP2	HP:0025403	Stooped posture	HP:0040283	ORPHA:3077
4204	MECP2	HP:0001423	X-linked dominant inheritance	-	OMIM:312750
4204	MECP2	HP:0002751	Kyphoscoliosis	3/20	OMIM:300055
4204	MECP2	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:3077
4204	MECP2	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:1762
4204	MECP2	HP:0001419	X-linked recessive inheritance	-	OMIM:300673
4204	MECP2	HP:0001419	X-linked recessive inheritance	-	OMIM:300055
4204	MECP2	HP:0001419	X-linked recessive inheritance	-	OMIM:300260
4204	MECP2	HP:0001417	X-linked inheritance	-	OMIM:300496
4204	MECP2	HP:0002719	Recurrent infections	9/12	OMIM:300260
4204	MECP2	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
4204	MECP2	HP:0032588	Hand apraxia	HP:0040282	ORPHA:3095
4204	MECP2	HP:0002020	Gastroesophageal reflux	-	OMIM:300673
4204	MECP2	HP:0002020	Gastroesophageal reflux	-	OMIM:312750
4204	MECP2	HP:0002020	Gastroesophageal reflux	-	OMIM:300260
4204	MECP2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:209370
4204	MECP2	HP:0002019	Constipation	-	OMIM:312750
4204	MECP2	HP:0002033	Poor suck	HP:0040282	ORPHA:209370
4204	MECP2	HP:0002015	Dysphagia	-	OMIM:300260
4204	MECP2	HP:0011800	Midface retrusion	5/7	OMIM:300260
4204	MECP2	HP:0002093	Respiratory insufficiency	-	OMIM:300673
4204	MECP2	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:209370
4204	MECP2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:209370
4204	MECP2	HP:0002067	Bradykinesia	HP:0040282	ORPHA:778
4204	MECP2	HP:0002067	Bradykinesia	4/4	OMIM:300055
4204	MECP2	HP:0002066	Gait ataxia	-	OMIM:312750
4204	MECP2	HP:0002066	Gait ataxia	HP:0040282	ORPHA:3095
4204	MECP2	HP:0002063	Rigidity	-	OMIM:300673
4204	MECP2	HP:0002063	Rigidity	-	OMIM:300260
4204	MECP2	HP:0002064	Spastic gait	-	OMIM:300055
4204	MECP2	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:3077
4204	MECP2	HP:0002061	Lower limb spasticity	17/18	OMIM:300260
4204	MECP2	HP:0002078	Truncal ataxia	-	OMIM:312750
4204	MECP2	HP:0002072	Chorea	HP:0040284	ORPHA:536
4204	MECP2	HP:0002072	Chorea	8/9	OMIM:300260
4204	MECP2	HP:0002039	Anorexia	HP:0040281	ORPHA:536
4204	MECP2	HP:0002039	Anorexia	HP:0040282	ORPHA:3077
4204	MECP2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:209370
4204	MECP2	HP:0003487	Babinski sign	-	OMIM:300055
4204	MECP2	HP:0002151	Increased circulating lactate concentration	HP:0040283	ORPHA:778
4204	MECP2	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
4204	MECP2	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:3095
4204	MECP2	HP:0002120	Cerebral cortical atrophy	-	OMIM:312750
4204	MECP2	HP:0002121	Generalized non-motor (absence) seizure	1/1	OMIM:300260
4204	MECP2	HP:0002136	Broad-based gait	HP:0040283	ORPHA:3077
4204	MECP2	HP:0002133	Status epilepticus	5/5	OMIM:300260
4204	MECP2	HP:0002126	Polymicrogyria	-	OMIM:300673
4204	MECP2	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:209370
4204	MECP2	HP:0002104	Apnea	1/1	OMIM:300055
4204	MECP2	HP:0002104	Apnea	-	OMIM:300673
4204	MECP2	HP:0002104	Apnea	HP:0040281	ORPHA:209370
4204	MECP2	HP:0002104	Apnea	-	OMIM:312750
4204	MECP2	HP:0002186	Apraxia	1/1	OMIM:300055
4204	MECP2	HP:0002186	Apraxia	HP:0040282	ORPHA:3095
4204	MECP2	HP:0002187	Intellectual disability, profound	2/2	OMIM:312750
4204	MECP2	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:3095
4204	MECP2	HP:0002191	Progressive spasticity	-	OMIM:300260
4204	MECP2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1762
4204	MECP2	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
4204	MECP2	HP:0010521	Gait apraxia	-	OMIM:312750
4204	MECP2	HP:0003593	Infantile onset	2/2	OMIM:300055
4204	MECP2	HP:0003577	Congenital onset	1/1	OMIM:300673
4204	MECP2	HP:0100703	Tongue thrusting	HP:0040282	ORPHA:3095
4204	MECP2	HP:0004879	Intermittent hyperventilation	2/2	OMIM:312750
4204	MECP2	HP:0003542	Increased circulating pyruvate concentration	HP:0040283	ORPHA:778
4204	MECP2	HP:0002205	Recurrent respiratory infections	12/18	OMIM:300260
4204	MECP2	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
4204	MECP2	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
4204	MECP2	HP:0007021	Pain insensitivity	3/9	OMIM:300260
4204	MECP2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:3095
4204	MECP2	HP:0011968	Feeding difficulties	1/1	OMIM:300260
4204	MECP2	HP:0007064	Progressive language deterioration	HP:0040281	ORPHA:778
4204	MECP2	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:3077
4204	MECP2	HP:0002362	Shuffling gait	-	OMIM:300055
4204	MECP2	HP:0002362	Shuffling gait	HP:0040283	ORPHA:3077
4204	MECP2	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:3095
4204	MECP2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:778
4204	MECP2	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:3077
4204	MECP2	HP:0002360	Sleep abnormality	3/9	OMIM:300260
4204	MECP2	HP:0002376	Developmental regression	3/3	OMIM:312750
4204	MECP2	HP:0002376	Developmental regression	HP:0040281	ORPHA:3095
4204	MECP2	HP:0002376	Developmental regression	HP:0040281	ORPHA:778
4204	MECP2	HP:0002376	Developmental regression	4/10	OMIM:300260
4204	MECP2	HP:0002371	Loss of speech	HP:0040281	ORPHA:3095
4204	MECP2	HP:0003676	Progressive	-	OMIM:300260
4204	MECP2	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:3077
4204	MECP2	HP:0002353	EEG abnormality	-	OMIM:300673
4204	MECP2	HP:0002353	EEG abnormality	-	OMIM:312750
4204	MECP2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:3095
4204	MECP2	HP:0002353	EEG abnormality	HP:0040282	ORPHA:778
4204	MECP2	HP:0002353	EEG abnormality	HP:0040282	OMIM:300496
4204	MECP2	HP:0003677	Slowly progressive	-	OMIM:300055
4204	MECP2	HP:0002322	Resting tremor	4/4	OMIM:300055
4204	MECP2	HP:0002322	Resting tremor	HP:0040283	ORPHA:3077
4204	MECP2	HP:0002333	Motor deterioration	2/2	OMIM:312750
4204	MECP2	HP:0002332	Lack of peer relationships	-	OMIM:300496
4204	MECP2	HP:0010841	Multifocal epileptiform discharges	HP:0040283	ORPHA:209370
4204	MECP2	HP:0010845	EEG with generalized slow activity	1/2	OMIM:300055
4204	MECP2	HP:0010843	EEG with focal slow activity	HP:0040282	ORPHA:209370
4204	MECP2	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
4204	MECP2	HP:0010804	Tented upper lip vermilion	HP:0040281	ORPHA:1762
4204	MECP2	HP:0010804	Tented upper lip vermilion	-	OMIM:300260
4204	MECP2	HP:0001082	Cholecystitis	HP:0040283	ORPHA:778
4204	MECP2	HP:0200055	Small hand	HP:0040282	ORPHA:3095
4204	MECP2	HP:0200055	Small hand	1/1	OMIM:300055
4204	MECP2	HP:0032169	Severe infection	5/5	OMIM:300260
4204	MECP2	HP:0007110	Central hypoventilation	-	OMIM:300673
4204	MECP2	HP:0002300	Mutism	HP:0040282	ORPHA:3095
4204	MECP2	HP:0002307	Drooling	2/2	OMIM:300055
4204	MECP2	HP:0002307	Drooling	18/19	OMIM:300260
4204	MECP2	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
4204	MECP2	HP:0004209	Clinodactyly of the 5th finger	1/7	OMIM:300260
4204	MECP2	HP:0006801	Hyperactive deep tendon reflexes	HP:0040281	ORPHA:3077
4204	MECP2	HP:0004299	Hernia of the abdominal wall	HP:0040282	ORPHA:1762
4204	MECP2	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
4204	MECP2	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
4204	MECP2	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
4204	MECP2	HP:0006887	Intellectual disability, progressive	-	OMIM:300673
4204	MECP2	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
4204	MECP2	HP:0001945	Fever	HP:0040281	ORPHA:536
4204	MECP2	HP:0031793	Increased serum leptin	HP:0040283	ORPHA:778
4204	MECP2	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:1762
4204	MECP2	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:3095
4204	MECP2	HP:0011344	Severe global developmental delay	1/1	OMIM:300260
4204	MECP2	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:209370
4204	MECP2	HP:0000687	Widely spaced teeth	1/7	OMIM:300260
4204	MECP2	HP:0001987	Hyperammonemia	HP:0040283	ORPHA:778
4204	MECP2	HP:0004325	Decreased body weight	1/1	OMIM:300260
4204	MECP2	HP:0004322	Short stature	-	OMIM:312750
4204	MECP2	HP:0004322	Short stature	HP:0040281	ORPHA:1762
4204	MECP2	HP:0004322	Short stature	HP:0040282	ORPHA:3077
4204	MECP2	HP:0004326	Cachexia	-	OMIM:312750
4204	MECP2	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:3095
4204	MECP2	HP:0004305	Involuntary movements	HP:0040281	ORPHA:3095
4204	MECP2	HP:0004305	Involuntary movements	HP:0040282	ORPHA:209370
4204	MECP2	HP:0031936	Delayed ability to walk	1/1	OMIM:300055
4204	MECP2	HP:0031936	Delayed ability to walk	18/18	OMIM:300260
4204	MECP2	HP:0000758	Abnormal nonverbal communicative behavior	-	OMIM:300496
4204	MECP2	HP:0000752	Hyperactivity	HP:0040281	ORPHA:3077
4204	MECP2	HP:0000771	Gynecomastia	1/5	OMIM:300055
4204	MECP2	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:3095
4204	MECP2	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:1762
4204	MECP2	HP:0000737	Irritability	HP:0040281	ORPHA:3077
4204	MECP2	HP:0000739	Anxiety	6/9	OMIM:300260
4204	MECP2	HP:0000733	Motor stereotypy	HP:0040281	ORPHA:778
4204	MECP2	HP:0000733	Motor stereotypy	-	OMIM:300496
4204	MECP2	HP:0000733	Motor stereotypy	11/17	OMIM:300260
4204	MECP2	HP:0000732	Inflexible adherence to routines	-	OMIM:300496
4204	MECP2	HP:0000750	Delayed speech and language development	4/4	OMIM:300055
4204	MECP2	HP:0000750	Delayed speech and language development	-	OMIM:300496
4204	MECP2	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040282	ORPHA:3095
4204	MECP2	HP:0000748	Inappropriate laughter	HP:0040283	ORPHA:3095
4204	MECP2	HP:0000716	Depression	HP:0040283	ORPHA:536
4204	MECP2	HP:0000716	Depression	-	OMIM:300260
4204	MECP2	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:3077
4204	MECP2	HP:0000717	Autism	-	OMIM:300496
4204	MECP2	HP:0000712	Emotional lability	1/5	OMIM:300055
4204	MECP2	HP:0000711	Restlessness	1/1	OMIM:300055
4204	MECP2	HP:0000713	Agitation	HP:0040281	ORPHA:3095
4204	MECP2	HP:0000713	Agitation	HP:0040283	ORPHA:778
4204	MECP2	HP:0000729	Autistic behavior	HP:0040281	ORPHA:3095
4204	MECP2	HP:0000729	Autistic behavior	-	OMIM:312750
4204	MECP2	HP:0000729	Autistic behavior	1/5	OMIM:300055
4204	MECP2	HP:0000729	Autistic behavior	13/17	OMIM:300260
4204	MECP2	HP:0000723	Restrictive behavior	HP:0040282	ORPHA:3095
4204	MECP2	HP:0000723	Restrictive behavior	-	OMIM:300496
4204	MECP2	HP:0000721	Lack of spontaneous play	-	OMIM:300496
4204	MECP2	HP:0000709	Psychosis	1/20	OMIM:300055
4204	MECP2	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040282	ORPHA:209370
4204	MECP2	HP:0011463	Childhood onset	1/1	OMIM:312750
4204	MECP2	HP:0011463	Childhood onset	-	OMIM:300496
4204	MECP2	HP:0011451	Primary microcephaly	HP:0040284	ORPHA:778
4204	MECP2	HP:0000790	Hematuria	HP:0040282	ORPHA:536
4204	MECP2	HP:0012760	Reduced social responsiveness	HP:0040282	ORPHA:3095
4204	MECP2	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
4204	MECP2	HP:0005709	2-3 toe cutaneous syndactyly	1/7	OMIM:300260
4204	MECP2	HP:0003144	Increased serum serotonin	HP:0040282	OMIM:300496
4204	MECP2	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:3095
4204	MECP2	HP:0000817	Reduced eye contact	19/19	OMIM:300260
4204	MECP2	HP:0000822	Hypertension	HP:0040282	ORPHA:536
4204	MECP2	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
4204	MECP2	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:778
4204	MECP2	HP:0003202	Skeletal muscle atrophy	-	OMIM:312750
4204	MECP2	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
4204	MECP2	HP:0045073	Serositis	HP:0040283	ORPHA:536
4204	MECP2	HP:0045084	Limb myoclonus	HP:0040282	ORPHA:3095
4204	MECP2	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
4204	MECP2	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
4204	MECP2	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
4204	MECP2	HP:0000286	Epicanthus	HP:0040281	ORPHA:1762
4204	MECP2	HP:0000286	Epicanthus	1/7	OMIM:300260
4204	MECP2	HP:0000297	Facial hypotonia	2/2	OMIM:300055
4204	MECP2	HP:0000297	Facial hypotonia	11/11	OMIM:300260
4204	MECP2	HP:0001596	Alopecia	HP:0040282	ORPHA:536
4204	MECP2	HP:0000256	Macrocephaly	1/7	OMIM:300260
4204	MECP2	HP:0000272	Malar flattening	5/5	OMIM:300260
4204	MECP2	HP:0005135	Abnormal T-wave	-	OMIM:312750
4204	MECP2	HP:0002808	Kyphosis	HP:0040283	ORPHA:3095
4204	MECP2	HP:0002808	Kyphosis	-	OMIM:312750
4204	MECP2	HP:0000253	Progressive microcephaly	-	OMIM:300673
4204	MECP2	HP:0000253	Progressive microcephaly	HP:0040281	ORPHA:778
4204	MECP2	HP:0000252	Microcephaly	1/1	OMIM:300055
4204	MECP2	HP:0000252	Microcephaly	HP:0040282	ORPHA:209370
4204	MECP2	HP:0000252	Microcephaly	1/7	OMIM:300260
4204	MECP2	HP:0000248	Brachycephaly	1/5	OMIM:300260
4204	MECP2	HP:0002882	Sudden episodic apnea	HP:0040282	ORPHA:3095
4204	MECP2	HP:0000218	High palate	HP:0040283	ORPHA:209370
4204	MECP2	HP:0000218	High palate	-	OMIM:300055
4204	MECP2	HP:0000218	High palate	1/7	OMIM:300260
4204	MECP2	HP:0002876	Episodic tachypnea	HP:0040282	ORPHA:3095
4204	MECP2	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:1762
4204	MECP2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:778
4204	MECP2	HP:0001508	Failure to thrive	-	OMIM:300673
4204	MECP2	HP:0001510	Growth delay	HP:0040283	ORPHA:3095
4204	MECP2	HP:0001510	Growth delay	HP:0040282	ORPHA:778
4204	MECP2	HP:0001510	Growth delay	0/7	OMIM:300260
4204	MECP2	HP:0001510	Growth delay	HP:0040282	ORPHA:209370
4204	MECP2	HP:0001513	Obesity	1/5	OMIM:300055
4204	MECP2	HP:0001513	Obesity	HP:0040283	ORPHA:3077
4204	MECP2	HP:0007824	Total ophthalmoplegia	-	ORPHA:3095
4204	MECP2	HP:0032807	Neonatal seizure	HP:0040282	ORPHA:3095
4204	MECP2	HP:0012378	Fatigue	HP:0040281	ORPHA:536
4204	MECP2	HP:0002916	Abnormality of chromosome segregation	HP:0040281	ORPHA:1762
4204	MECP2	HP:0005184	Prolonged QTc interval	-	OMIM:312750
4204	MECP2	HP:0000369	Low-set ears	-	OMIM:300260
4204	MECP2	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:778
4204	MECP2	HP:0032792	Tonic seizure	1/1	OMIM:300260
4204	MECP2	HP:0000347	Micrognathia	-	OMIM:300055
4204	MECP2	HP:0031473	Anger	-	OMIM:300260
4204	MECP2	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:3077
4204	MECP2	HP:0011188	Focal EEG discharges with secondary generalization	HP:0040282	ORPHA:3077
4204	MECP2	HP:0032989	Delayed ability to roll over	1/1	OMIM:300260
4204	MECP2	HP:0032988	Persistent head lag	1/1	OMIM:300055
4204	MECP2	HP:0005324	Disturbance of facial expression	-	OMIM:300496
4204	MECP2	HP:0000400	Macrotia	3/20	OMIM:300055
4204	MECP2	HP:0000400	Macrotia	2/7	OMIM:300260
4204	MECP2	HP:0005280	Depressed nasal bridge	-	OMIM:300260
4204	MECP2	HP:0030215	Inappropriate crying	HP:0040283	ORPHA:3095
4204	MECP2	HP:0030217	Limb apraxia	HP:0040282	ORPHA:778
4204	MECP2	HP:0012469	Infantile spasms	HP:0040283	ORPHA:3095
4204	MECP2	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
4204	MECP2	HP:0000463	Anteverted nares	1/7	OMIM:300260
4204	MECP2	HP:0012450	Chronic constipation	9/14	OMIM:300260
4204	MECP2	HP:0000470	Short neck	-	OMIM:300055
4204	MECP2	HP:0001773	Short foot	HP:0040282	ORPHA:3095
4204	MECP2	HP:0001773	Short foot	3/4	OMIM:300260
4204	MECP2	HP:0001773	Short foot	-	OMIM:312750
4204	MECP2	HP:0000431	Wide nasal bridge	1/7	OMIM:300260
4204	MECP2	HP:0001761	Pes cavus	-	OMIM:300055
4204	MECP2	HP:0000426	Prominent nasal bridge	1/7	OMIM:300260
4204	MECP2	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
4204	MECP2	HP:0005484	Secondary microcephaly	HP:0040282	ORPHA:3095
4204	MECP2	HP:0005484	Secondary microcephaly	-	OMIM:312750
4204	MECP2	HP:0001824	Weight loss	HP:0040281	ORPHA:536
4204	MECP2	HP:0000508	Ptosis	HP:0040281	ORPHA:1762
4204	MECP2	HP:0000508	Ptosis	2/7	OMIM:300260
4204	MECP2	HP:0000582	Upslanted palpebral fissure	1/7	OMIM:300260
4204	MECP2	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:1762
4204	MECP2	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
4204	MECP2	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
4204	MECP2	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
4205	MEF2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:608320
4205	MEF2A	HP:0003581	Adult onset	13/13	OMIM:608320
4205	MEF2A	HP:0100749	Chest pain	-	OMIM:608320
4205	MEF2A	HP:0003124	Hypercholesterolemia	9/13	OMIM:608320
4205	MEF2A	HP:0000819	Diabetes mellitus	1/13	OMIM:608320
4205	MEF2A	HP:0000822	Hypertension	8/13	OMIM:608320
4205	MEF2A	HP:0001513	Obesity	1/13	OMIM:608320
4205	MEF2A	HP:0005181	Premature coronary artery atherosclerosis	13/13	OMIM:608320
4205	MEF2A	HP:0001658	Myocardial infarction	9/13	OMIM:608320
4208	MEF2C	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:228384
4208	MEF2C	HP:0010864	Intellectual disability, severe	6/6	OMIM:613443
4208	MEF2C	HP:0003745	Sporadic	-	OMIM:613443
4208	MEF2C	HP:0001270	Motor delay	6/6	OMIM:613443
4208	MEF2C	HP:0001250	Seizure	HP:0040281	ORPHA:228384
4208	MEF2C	HP:0001250	Seizure	4/6	OMIM:613443
4208	MEF2C	HP:0001252	Hypotonia	HP:0040281	ORPHA:228384
4208	MEF2C	HP:0001252	Hypotonia	5/6	OMIM:613443
4208	MEF2C	HP:0002540	Inability to walk	5/6	OMIM:613443
4208	MEF2C	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	OMIM:613443
4208	MEF2C	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:613443
4208	MEF2C	HP:0025336	Delayed ability to sit	6/6	OMIM:613443
4208	MEF2C	HP:0001344	Absent speech	6/6	OMIM:613443
4208	MEF2C	HP:0000006	Autosomal dominant inheritance	-	OMIM:613443
4208	MEF2C	HP:0000180	Lobulated tongue	1/6	OMIM:613443
4208	MEF2C	HP:0000194	Open mouth	HP:0040283	ORPHA:228384
4208	MEF2C	HP:0002714	Downturned corners of mouth	-	OMIM:613443
4208	MEF2C	HP:0004691	2-3 toe syndactyly	2/6	OMIM:613443
4208	MEF2C	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:228384
4208	MEF2C	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:228384
4208	MEF2C	HP:0002119	Ventriculomegaly	3/6	OMIM:613443
4208	MEF2C	HP:0002198	Dilated fourth ventricle	2/6	OMIM:613443
4208	MEF2C	HP:0003593	Infantile onset	-	OMIM:613443
4208	MEF2C	HP:0200134	Epileptic encephalopathy	HP:0040283	OMIM:613443
4208	MEF2C	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:228384
4208	MEF2C	HP:0011968	Feeding difficulties	1/6	OMIM:613443
4208	MEF2C	HP:0002335	Agenesis of cerebellar vermis	HP:0040283	ORPHA:228384
4208	MEF2C	HP:0004209	Clinodactyly of the 5th finger	1/6	OMIM:613443
4208	MEF2C	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:228384
4208	MEF2C	HP:0012639	Abnormal nervous system morphology	HP:0040282	ORPHA:228384
4208	MEF2C	HP:0006956	Lateral ventricle dilatation	1/6	OMIM:613443
4208	MEF2C	HP:0006913	Frontal cortical atrophy	HP:0040283	ORPHA:228384
4208	MEF2C	HP:0031936	Delayed ability to walk	6/6	OMIM:613443
4208	MEF2C	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:228384
4208	MEF2C	HP:0000733	Motor stereotypy	3/6	OMIM:613443
4208	MEF2C	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:228384
4208	MEF2C	HP:0000729	Autistic behavior	HP:0040281	ORPHA:228384
4208	MEF2C	HP:0003196	Short nose	HP:0040282	ORPHA:228384
4208	MEF2C	HP:0003196	Short nose	3/6	OMIM:613443
4208	MEF2C	HP:0000817	Reduced eye contact	6/6	OMIM:613443
4208	MEF2C	HP:0000954	Single transverse palmar crease	1/6	OMIM:613443
4208	MEF2C	HP:0000219	Thin upper lip vermilion	1/6	OMIM:613443
4208	MEF2C	HP:0000369	Low-set ears	-	OMIM:613443
4208	MEF2C	HP:0000337	Broad forehead	HP:0040281	ORPHA:228384
4208	MEF2C	HP:0000337	Broad forehead	5/6	OMIM:613443
4208	MEF2C	HP:0000348	High forehead	HP:0040281	ORPHA:228384
4208	MEF2C	HP:0000316	Hypertelorism	-	OMIM:613443
4208	MEF2C	HP:0000331	Short chin	4/6	OMIM:613443
4208	MEF2C	HP:0000322	Short philtrum	HP:0040282	ORPHA:228384
4208	MEF2C	HP:0000322	Short philtrum	3/6	OMIM:613443
4208	MEF2C	HP:0005280	Depressed nasal bridge	-	OMIM:613443
4208	MEF2C	HP:0000486	Strabismus	HP:0040283	ORPHA:228384
4208	MEF2C	HP:0000490	Deeply set eye	HP:0040283	ORPHA:228384
4208	MEF2C	HP:0000490	Deeply set eye	2/6	OMIM:613443
4208	MEF2C	HP:0000463	Anteverted nares	HP:0040283	ORPHA:228384
4208	MEF2C	HP:0000463	Anteverted nares	-	OMIM:613443
4208	MEF2C	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:228384
4208	MEF2C	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:228384
4208	MEF2C	HP:0000582	Upslanted palpebral fissure	3/6	OMIM:613443
4208	MEF2C	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:228384
4210	MEFV	HP:0001155	Abnormality of the hand	HP:0040282	ORPHA:3243
4210	MEFV	HP:0003774	Stage 5 chronic kidney disease	6/115	OMIM:249100
4210	MEFV	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:117
4210	MEFV	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:117
4210	MEFV	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:117
4210	MEFV	HP:0001269	Hemiparesis	HP:0040282	ORPHA:117
4210	MEFV	HP:0001287	Meningitis	HP:0040283	ORPHA:342
4210	MEFV	HP:0001287	Meningitis	-	OMIM:249100
4210	MEFV	HP:0001287	Meningitis	HP:0040281	ORPHA:117
4210	MEFV	HP:0001289	Confusion	HP:0040282	ORPHA:117
4210	MEFV	HP:0001288	Gait disturbance	HP:0040282	ORPHA:117
4210	MEFV	HP:0002586	Peritonitis	-	OMIM:134610
4210	MEFV	HP:0002586	Peritonitis	HP:0040283	ORPHA:342
4210	MEFV	HP:0002586	Peritonitis	164/175	OMIM:249100
4210	MEFV	HP:0001250	Seizure	HP:0040282	ORPHA:342
4210	MEFV	HP:0001250	Seizure	HP:0040283	ORPHA:117
4210	MEFV	HP:0001251	Ataxia	HP:0040283	ORPHA:117
4210	MEFV	HP:0002574	Episodic abdominal pain	349/488	OMIM:249100
4210	MEFV	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:117
4210	MEFV	HP:0032324	Non-periodic recurrent fever	HP:0040282	ORPHA:3243
4210	MEFV	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:117
4210	MEFV	HP:0000083	Renal insufficiency	2/5	OMIM:134610
4210	MEFV	HP:0000099	Glomerulonephritis	HP:0040284	ORPHA:117
4210	MEFV	HP:0000093	Proteinuria	HP:0040282	ORPHA:342
4210	MEFV	HP:0000093	Proteinuria	5/5	OMIM:134610
4210	MEFV	HP:0001369	Arthritis	218/561	OMIM:249100
4210	MEFV	HP:0001369	Arthritis	HP:0040282	ORPHA:342
4210	MEFV	HP:0001369	Arthritis	HP:0040281	ORPHA:117
4210	MEFV	HP:0001386	Joint swelling	HP:0040281	ORPHA:329967
4210	MEFV	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:117
4210	MEFV	HP:0000031	Epididymitis	HP:0040283	ORPHA:117
4210	MEFV	HP:0002664	Neoplasm	HP:0040283	ORPHA:3243
4210	MEFV	HP:0000007	Autosomal recessive inheritance	-	OMIM:249100
4210	MEFV	HP:0000006	Autosomal dominant inheritance	-	OMIM:608068
4210	MEFV	HP:0000006	Autosomal dominant inheritance	-	OMIM:134610
4210	MEFV	HP:0033748	Hypoesthesia	HP:0040282	ORPHA:342
4210	MEFV	HP:0002638	Superficial thrombophlebitis	HP:0040282	ORPHA:117
4210	MEFV	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:117
4210	MEFV	HP:0002633	Vasculitis	HP:0040283	ORPHA:342
4210	MEFV	HP:0002633	Vasculitis	HP:0040281	ORPHA:117
4210	MEFV	HP:0025474	Erythematous plaque	HP:0040281	ORPHA:3243
4210	MEFV	HP:0025452	Pyoderma gangrenosum	HP:0040283	ORPHA:3243
4210	MEFV	HP:0025452	Pyoderma gangrenosum	11/13	OMIM:608068
4210	MEFV	HP:0000155	Oral ulcer	HP:0040281	ORPHA:117
4210	MEFV	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:117
4210	MEFV	HP:0012121	Panuveitis	HP:0040282	ORPHA:117
4210	MEFV	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:342
4210	MEFV	HP:0025406	Asthenia	HP:0040282	ORPHA:342
4210	MEFV	HP:0000100	Nephrotic syndrome	-	OMIM:249100
4210	MEFV	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:342
4210	MEFV	HP:0002758	Osteoarthritis	HP:0040283	ORPHA:342
4210	MEFV	HP:0000112	Nephropathy	HP:0040283	ORPHA:342
4210	MEFV	HP:0031236	Predominantly dermal neutrophilic infiltrate	HP:0040281	ORPHA:3243
4210	MEFV	HP:0002745	Oral leukoplakia	HP:0040282	ORPHA:342
4210	MEFV	HP:0002719	Recurrent infections	HP:0040283	ORPHA:3243
4210	MEFV	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:342
4210	MEFV	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:117
4210	MEFV	HP:0002024	Malabsorption	HP:0040283	ORPHA:342
4210	MEFV	HP:0002024	Malabsorption	HP:0040283	ORPHA:117
4210	MEFV	HP:0002019	Constipation	HP:0040281	ORPHA:342
4210	MEFV	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:342
4210	MEFV	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:117
4210	MEFV	HP:0002037	Inflammation of the large intestine	HP:0040283	ORPHA:3243
4210	MEFV	HP:0002027	Abdominal pain	353/446	OMIM:249100
4210	MEFV	HP:0002027	Abdominal pain	HP:0040281	ORPHA:342
4210	MEFV	HP:0002027	Abdominal pain	HP:0040282	ORPHA:117
4210	MEFV	HP:0002027	Abdominal pain	-	OMIM:134610
4210	MEFV	HP:0040313	Oligoarthritis	HP:0040283	ORPHA:3243
4210	MEFV	HP:0003326	Myalgia	-	OMIM:249100
4210	MEFV	HP:0003326	Myalgia	HP:0040282	ORPHA:3243
4210	MEFV	HP:0003326	Myalgia	HP:0040281	ORPHA:342
4210	MEFV	HP:0003326	Myalgia	HP:0040281	ORPHA:117
4210	MEFV	HP:0003326	Myalgia	12/12	OMIM:608068
4210	MEFV	HP:0002014	Diarrhea	30/446	OMIM:249100
4210	MEFV	HP:0002014	Diarrhea	HP:0040282	ORPHA:342
4210	MEFV	HP:0002014	Diarrhea	HP:0040284	ORPHA:117
4210	MEFV	HP:0002013	Vomiting	34/446	OMIM:249100
4210	MEFV	HP:0033188	Cystic acne	3/3	OMIM:608068
4210	MEFV	HP:0002076	Migraine	HP:0040281	ORPHA:117
4210	MEFV	HP:0002039	Anorexia	HP:0040283	ORPHA:117
4210	MEFV	HP:0100584	Endocarditis	HP:0040283	ORPHA:117
4210	MEFV	HP:0002102	Pleuritis	HP:0040282	ORPHA:342
4210	MEFV	HP:0002102	Pleuritis	54/115	OMIM:249100
4210	MEFV	HP:0002102	Pleuritis	4/5	OMIM:134610
4210	MEFV	HP:0002102	Pleuritis	HP:0040283	ORPHA:117
4210	MEFV	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:117
4210	MEFV	HP:0002105	Hemoptysis	HP:0040283	ORPHA:117
4210	MEFV	HP:0003419	Low back pain	HP:0040283	ORPHA:342
4210	MEFV	HP:0011899	Hyperfibrinogenemia	HP:0040282	ORPHA:342
4210	MEFV	HP:0011897	Increased total neutrophil count	HP:0040282	ORPHA:3243
4210	MEFV	HP:0011897	Increased total neutrophil count	-	OMIM:249100
4210	MEFV	HP:0003401	Paresthesia	HP:0040283	ORPHA:117
4210	MEFV	HP:0003593	Infantile onset	-	OMIM:249100
4210	MEFV	HP:0002240	Hepatomegaly	-	OMIM:249100
4210	MEFV	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:117
4210	MEFV	HP:0003565	Elevated erythrocyte sedimentation rate	-	OMIM:249100
4210	MEFV	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:3243
4210	MEFV	HP:0003565	Elevated erythrocyte sedimentation rate	1/3	OMIM:608068
4210	MEFV	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040283	ORPHA:342
4210	MEFV	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:117
4210	MEFV	HP:0002202	Pleural effusion	-	OMIM:249100
4210	MEFV	HP:0002202	Pleural effusion	HP:0040283	ORPHA:117
4210	MEFV	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:117
4210	MEFV	HP:0100796	Orchitis	HP:0040283	ORPHA:342
4210	MEFV	HP:0100796	Orchitis	11/373	OMIM:249100
4210	MEFV	HP:0100796	Orchitis	HP:0040281	ORPHA:117
4210	MEFV	HP:0100749	Chest pain	125/373	OMIM:249100
4210	MEFV	HP:0100749	Chest pain	HP:0040282	ORPHA:342
4210	MEFV	HP:0100749	Chest pain	-	OMIM:134610
4210	MEFV	HP:0100758	Gangrene	HP:0040283	ORPHA:117
4210	MEFV	HP:0033332	Elevated circulating amyloid A concentration	-	OMIM:249100
4210	MEFV	HP:0011944	Small vessel vasculitis	HP:0040282	ORPHA:3243
4210	MEFV	HP:0011944	Small vessel vasculitis	-	OMIM:608068
4210	MEFV	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:3243
4210	MEFV	HP:0001055	Erysipelas	HP:0040282	ORPHA:342
4210	MEFV	HP:0001055	Erysipelas	13/115	OMIM:249100
4210	MEFV	HP:0001055	Erysipelas	4/5	OMIM:134610
4210	MEFV	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:117
4210	MEFV	HP:0001061	Acne	HP:0040282	ORPHA:3243
4210	MEFV	HP:0001061	Acne	HP:0040282	ORPHA:117
4210	MEFV	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:342
4210	MEFV	HP:0002376	Developmental regression	HP:0040283	ORPHA:117
4210	MEFV	HP:0002354	Memory impairment	HP:0040283	ORPHA:117
4210	MEFV	HP:0002321	Vertigo	HP:0040283	ORPHA:117
4210	MEFV	HP:0002315	Headache	-	OMIM:249100
4210	MEFV	HP:0002315	Headache	HP:0040282	ORPHA:117
4210	MEFV	HP:0100653	Optic neuritis	HP:0040283	ORPHA:117
4210	MEFV	HP:0100654	Retrobulbar optic neuritis	HP:0040283	ORPHA:117
4210	MEFV	HP:0200037	Skin vesicle	HP:0040283	ORPHA:3243
4210	MEFV	HP:0200036	Skin nodule	HP:0040281	ORPHA:3243
4210	MEFV	HP:0200034	Papule	HP:0040281	ORPHA:117
4210	MEFV	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:117
4210	MEFV	HP:0100614	Myositis	HP:0040282	ORPHA:3243
4210	MEFV	HP:0100614	Myositis	HP:0040283	ORPHA:117
4210	MEFV	HP:0200039	Pustule	HP:0040283	ORPHA:3243
4210	MEFV	HP:0200039	Pustule	HP:0040282	ORPHA:117
4210	MEFV	HP:0010783	Erythema	-	OMIM:608068
4210	MEFV	HP:0010783	Erythema	HP:0040282	ORPHA:342
4210	MEFV	HP:0032154	Aphthous ulcer	89/373	OMIM:249100
4210	MEFV	HP:0010741	Pedal edema	HP:0040283	ORPHA:342
4210	MEFV	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:117
4210	MEFV	HP:0003621	Juvenile onset	-	OMIM:249100
4210	MEFV	HP:0003621	Juvenile onset	-	OMIM:134610
4210	MEFV	HP:0020169	Abnormal drug response	HP:0040283	ORPHA:3243
4210	MEFV	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:117
4210	MEFV	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:117
4210	MEFV	HP:4000041	AA amyloidosis	HP:0040283	ORPHA:117
4210	MEFV	HP:0005550	Chronic lymphatic leukemia	HP:0040284	ORPHA:3243
4210	MEFV	HP:0001974	Increased total leukocyte count	-	OMIM:249100
4210	MEFV	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:3243
4210	MEFV	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:342
4210	MEFV	HP:0000618	Blindness	HP:0040283	ORPHA:117
4210	MEFV	HP:0000613	Photophobia	HP:0040281	ORPHA:117
4210	MEFV	HP:0001945	Fever	HP:0040281	ORPHA:342
4210	MEFV	HP:0001945	Fever	HP:0040281	ORPHA:117
4210	MEFV	HP:0001954	Recurrent fever	520/819	OMIM:249100
4210	MEFV	HP:0001954	Recurrent fever	13/15	OMIM:608068
4210	MEFV	HP:0001954	Recurrent fever	5/5	OMIM:134610
4210	MEFV	HP:0001954	Recurrent fever	HP:0040283	ORPHA:117
4210	MEFV	HP:0001903	Anemia	4/12	OMIM:608068
4210	MEFV	HP:0001903	Anemia	HP:0040283	ORPHA:3243
4210	MEFV	HP:0001917	Renal amyloidosis	17/446	OMIM:249100
4210	MEFV	HP:0001917	Renal amyloidosis	2/5	OMIM:134610
4210	MEFV	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:117
4210	MEFV	HP:0003002	Breast carcinoma	HP:0040284	ORPHA:3243
4210	MEFV	HP:0004396	Poor appetite	HP:0040282	ORPHA:342
4210	MEFV	HP:0004377	Hematological neoplasm	HP:0040283	ORPHA:3243
4210	MEFV	HP:0000737	Irritability	HP:0040282	ORPHA:342
4210	MEFV	HP:0000737	Irritability	HP:0040283	ORPHA:117
4210	MEFV	HP:0000739	Anxiety	HP:0040283	ORPHA:342
4210	MEFV	HP:0000716	Depression	HP:0040283	ORPHA:342
4210	MEFV	HP:0000708	Atypical behavior	HP:0040283	ORPHA:117
4210	MEFV	HP:0011463	Childhood onset	-	OMIM:249100
4210	MEFV	HP:0011463	Childhood onset	-	OMIM:608068
4210	MEFV	HP:0011462	Young adult onset	-	OMIM:249100
4210	MEFV	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:117
4210	MEFV	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:342
4210	MEFV	HP:0005764	Polyarticular arthritis	5/5	OMIM:134610
4210	MEFV	HP:0030783	Increased circulating interleukin 6 concentration	HP:0040282	ORPHA:3243
4210	MEFV	HP:0030783	Increased circulating interleukin 6 concentration	-	OMIM:608068
4210	MEFV	HP:0100326	Immunologic hypersensitivity	HP:0040282	ORPHA:117
4210	MEFV	HP:0012819	Myocarditis	HP:0040283	ORPHA:117
4210	MEFV	HP:0045086	Knee joint hypermobility	HP:0040283	ORPHA:329967
4210	MEFV	HP:0003249	Genital ulcers	HP:0040282	ORPHA:117
4210	MEFV	HP:0100280	Crohn's disease	6/115	OMIM:249100
4210	MEFV	HP:0000988	Skin rash	HP:0040283	ORPHA:342
4210	MEFV	HP:0000934	Chondrocalcinosis	HP:0040284	ORPHA:329967
4210	MEFV	HP:0040154	Acne inversa	HP:0040283	ORPHA:3243
4210	MEFV	HP:0040154	Acne inversa	1/3	OMIM:608068
4210	MEFV	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:3243
4210	MEFV	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:117
4210	MEFV	HP:0011675	Arrhythmia	HP:0040283	ORPHA:342
4210	MEFV	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:3243
4210	MEFV	HP:0002815	Abnormality of the knee	HP:0040282	ORPHA:329967
4210	MEFV	HP:0002829	Arthralgia	218/383	OMIM:249100
4210	MEFV	HP:0002829	Arthralgia	HP:0040282	ORPHA:3243
4210	MEFV	HP:0002829	Arthralgia	HP:0040281	ORPHA:342
4210	MEFV	HP:0002829	Arthralgia	HP:0040282	ORPHA:117
4210	MEFV	HP:0002829	Arthralgia	HP:0040283	ORPHA:329967
4210	MEFV	HP:0002829	Arthralgia	12/12	OMIM:608068
4210	MEFV	HP:0002829	Arthralgia	5/5	OMIM:134610
4210	MEFV	HP:0025532	Positive pathergy test	HP:0040282	ORPHA:117
4210	MEFV	HP:0012219	Erythema nodosum	HP:0040282	ORPHA:117
4210	MEFV	HP:0001541	Ascites	HP:0040283	ORPHA:342
4210	MEFV	HP:0007813	Nongranulomatous uveitis	HP:0040282	ORPHA:117
4210	MEFV	HP:0012378	Fatigue	HP:0040282	ORPHA:342
4210	MEFV	HP:0012378	Fatigue	HP:0040281	ORPHA:117
4210	MEFV	HP:0011034	Amyloidosis	HP:0040283	ORPHA:342
4210	MEFV	HP:0011034	Amyloidosis	5/115	OMIM:249100
4210	MEFV	HP:0005244	Gastrointestinal infarctions	HP:0040283	ORPHA:342
4210	MEFV	HP:0005214	Intestinal obstruction	HP:0040283	ORPHA:342
4210	MEFV	HP:0006554	Acute hepatic failure	HP:0040283	ORPHA:342
4210	MEFV	HP:0025616	Sterile abscess	HP:0040282	ORPHA:3243
4210	MEFV	HP:0001644	Dilated cardiomyopathy	HP:0040284	ORPHA:3243
4210	MEFV	HP:0001644	Dilated cardiomyopathy	1/12	OMIM:608068
4210	MEFV	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:342
4210	MEFV	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:117
4210	MEFV	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:117
4210	MEFV	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:117
4210	MEFV	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:117
4210	MEFV	HP:0012490	Panniculitis	HP:0040283	ORPHA:3243
4210	MEFV	HP:0012490	Panniculitis	1/3	OMIM:608068
4210	MEFV	HP:0001733	Pancreatitis	HP:0040283	ORPHA:342
4210	MEFV	HP:0001733	Pancreatitis	HP:0040283	ORPHA:117
4210	MEFV	HP:0001701	Pericarditis	HP:0040284	ORPHA:342
4210	MEFV	HP:0001701	Pericarditis	-	OMIM:249100
4210	MEFV	HP:0001701	Pericarditis	HP:0040283	ORPHA:117
4210	MEFV	HP:0000488	Retinopathy	HP:0040283	ORPHA:117
4210	MEFV	HP:0000464	Abnormality of the neck	HP:0040282	ORPHA:3243
4210	MEFV	HP:0011118	Abnormality of tumor necrosis factor secretion	HP:0040282	ORPHA:3243
4210	MEFV	HP:0011117	Abnormal circulating interleukin concentration	HP:0040281	ORPHA:3243
4210	MEFV	HP:0012450	Chronic constipation	16/446	OMIM:249100
4210	MEFV	HP:0011107	Recurrent aphthous stomatitis	HP:0040281	ORPHA:117
4210	MEFV	HP:0001744	Splenomegaly	5/115	OMIM:249100
4210	MEFV	HP:0001744	Splenomegaly	HP:0040283	ORPHA:342
4210	MEFV	HP:0001744	Splenomegaly	HP:0040283	ORPHA:117
4210	MEFV	HP:0000518	Cataract	HP:0040283	ORPHA:117
4210	MEFV	HP:0001824	Weight loss	HP:0040283	ORPHA:117
4210	MEFV	HP:0030350	Erythematous papule	HP:0040281	ORPHA:3243
4210	MEFV	HP:0011227	Elevated circulating C-reactive protein concentration	-	OMIM:249100
4210	MEFV	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:3243
4210	MEFV	HP:0011227	Elevated circulating C-reactive protein concentration	11/13	OMIM:608068
4210	MEFV	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:117
4210	MEFV	HP:0012531	Pain	HP:0040281	ORPHA:3243
4212	MEIS2	HP:0009890	High anterior hairline	-	OMIM:600987
4212	MEIS2	HP:0001250	Seizure	HP:0040283	ORPHA:261190
4212	MEIS2	HP:0001249	Intellectual disability	1/1	OMIM:600987
4212	MEIS2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:261190
4212	MEIS2	HP:0001263	Global developmental delay	-	OMIM:600987
4212	MEIS2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:261190
4212	MEIS2	HP:0002571	Achalasia	1/1	OMIM:600987
4212	MEIS2	HP:0002553	Highly arched eyebrow	1/1	OMIM:600987
4212	MEIS2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:261190
4212	MEIS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:600987
4212	MEIS2	HP:0002650	Scoliosis	HP:0040283	ORPHA:261190
4212	MEIS2	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:261190
4212	MEIS2	HP:0000175	Cleft palate	HP:0040281	ORPHA:261190
4212	MEIS2	HP:0000175	Cleft palate	1/1	OMIM:600987
4212	MEIS2	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:261190
4212	MEIS2	HP:0002020	Gastroesophageal reflux	1/1	OMIM:600987
4212	MEIS2	HP:0004691	2-3 toe syndactyly	1/1	OMIM:600987
4212	MEIS2	HP:0002003	Large forehead	-	OMIM:600987
4212	MEIS2	HP:0033255	Congenital lobar overinflation	1/1	OMIM:600987
4212	MEIS2	HP:0009536	Short 2nd finger	-	OMIM:600987
4212	MEIS2	HP:0003577	Congenital onset	1/1	OMIM:600987
4212	MEIS2	HP:0011968	Feeding difficulties	1/1	OMIM:600987
4212	MEIS2	HP:0001061	Acne	HP:0040283	ORPHA:261190
4212	MEIS2	HP:0010804	Tented upper lip vermilion	1/1	OMIM:600987
4212	MEIS2	HP:0010055	Broad hallux	-	OMIM:600987
4212	MEIS2	HP:0011344	Severe global developmental delay	1/1	OMIM:600987
4212	MEIS2	HP:0011304	Broad thumb	-	OMIM:600987
4212	MEIS2	HP:0004322	Short stature	-	OMIM:600987
4212	MEIS2	HP:0004322	Short stature	HP:0040281	ORPHA:261190
4212	MEIS2	HP:0012725	Cutaneous syndactyly	-	OMIM:600987
4212	MEIS2	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:261190
4212	MEIS2	HP:0000717	Autism	HP:0040283	ORPHA:261190
4212	MEIS2	HP:0000729	Autistic behavior	1/1	OMIM:600987
4212	MEIS2	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:261190
4212	MEIS2	HP:0009237	Short 5th finger	-	OMIM:600987
4212	MEIS2	HP:0045075	Sparse eyebrow	-	OMIM:600987
4212	MEIS2	HP:0011682	Perimembranous ventricular septal defect	1/1	OMIM:600987
4212	MEIS2	HP:0000276	Long face	HP:0040283	ORPHA:261190
4212	MEIS2	HP:0002808	Kyphosis	HP:0040283	ORPHA:261190
4212	MEIS2	HP:0000252	Microcephaly	-	OMIM:600987
4212	MEIS2	HP:0000252	Microcephaly	HP:0040282	ORPHA:261190
4212	MEIS2	HP:0000219	Thin upper lip vermilion	1/1	OMIM:600987
4212	MEIS2	HP:0000204	Cleft upper lip	-	OMIM:600987
4212	MEIS2	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:261190
4212	MEIS2	HP:0000369	Low-set ears	HP:0040283	ORPHA:261190
4212	MEIS2	HP:0000369	Low-set ears	-	OMIM:600987
4212	MEIS2	HP:0000341	Narrow forehead	1/1	OMIM:600987
4212	MEIS2	HP:0000341	Narrow forehead	HP:0040282	ORPHA:261190
4212	MEIS2	HP:0000343	Long philtrum	HP:0040283	ORPHA:261190
4212	MEIS2	HP:0001684	Secundum atrial septal defect	1/1	OMIM:600987
4212	MEIS2	HP:0001680	Coarctation of aorta	1/1	OMIM:600987
4212	MEIS2	HP:0000319	Smooth philtrum	HP:0040282	ORPHA:261190
4212	MEIS2	HP:0000322	Short philtrum	HP:0040282	ORPHA:261190
4212	MEIS2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:261190
4212	MEIS2	HP:0001629	Ventricular septal defect	-	OMIM:600987
4212	MEIS2	HP:0000307	Pointed chin	HP:0040282	ORPHA:261190
4212	MEIS2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:261190
4212	MEIS2	HP:0001631	Atrial septal defect	-	OMIM:600987
4212	MEIS2	HP:0000490	Deeply set eye	1/1	OMIM:600987
4212	MEIS2	HP:0000490	Deeply set eye	HP:0040282	ORPHA:261190
4212	MEIS2	HP:0000444	Convex nasal ridge	HP:0040283	ORPHA:261190
4212	MEIS2	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:261190
4212	MEIS2	HP:0001852	Sandal gap	1/1	OMIM:600987
4212	MEIS2	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:600987
4212	MEIS2	HP:0011230	Laterally extended eyebrow	1/1	OMIM:600987
4212	MEIS2	HP:0012523	Oral aversion	1/1	OMIM:600987
4214	MAP3K1	HP:0008726	Hypoplasia of the vagina	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0008730	Female external genitalia in individual with 46,XY karyotype	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0008715	Testicular dysgenesis	HP:0040281	ORPHA:242
4214	MAP3K1	HP:0008665	Clitoral hypertrophy	1/17	OMIM:613762
4214	MAP3K1	HP:0008665	Clitoral hypertrophy	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0000058	Abnormal labia morphology	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:242
4214	MAP3K1	HP:0000045	Abnormal scrotum morphology	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0000041	Chordee	-	OMIM:613762
4214	MAP3K1	HP:0000037	Male pseudohermaphroditism	HP:0040281	ORPHA:242
4214	MAP3K1	HP:0000054	Micropenis	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0000047	Hypospadias	4/17	OMIM:613762
4214	MAP3K1	HP:0000047	Hypospadias	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0000030	Testicular gonadoblastoma	HP:0040283	ORPHA:251510
4214	MAP3K1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:251510
4214	MAP3K1	HP:0000027	Azoospermia	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:251510
4214	MAP3K1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613762
4214	MAP3K1	HP:0000142	Abnormal vagina morphology	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0000150	Gonadoblastoma	1/17	OMIM:613762
4214	MAP3K1	HP:0000150	Gonadoblastoma	HP:0040282	ORPHA:251510
4214	MAP3K1	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:242
4214	MAP3K1	HP:0000149	Ovarian gonadoblastoma	HP:0040283	ORPHA:251510
4214	MAP3K1	HP:0000133	Gonadal dysgenesis	13/13	OMIM:613762
4214	MAP3K1	HP:0000133	Gonadal dysgenesis	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0000100	Nephrotic syndrome	HP:0040284	ORPHA:251510
4214	MAP3K1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:251510
4214	MAP3K1	HP:0008193	Primary gonadal insufficiency	HP:0040283	ORPHA:251510
4214	MAP3K1	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:251510
4214	MAP3K1	HP:0010464	Streak ovary	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0008232	Elevated circulating follicle stimulating hormone level	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0002215	Sparse axillary hair	-	OMIM:613762
4214	MAP3K1	HP:0002215	Sparse axillary hair	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0002225	Sparse pubic hair	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0100779	Urogenital sinus anomaly	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0001007	Hirsutism	HP:0040283	OMIM:613762
4214	MAP3K1	HP:0100621	Dysgerminoma	1/17	OMIM:613762
4214	MAP3K1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040284	ORPHA:251510
4214	MAP3K1	HP:0000771	Gynecomastia	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0012870	Vanishing testis	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0000868	Decreased fertility in females	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0000846	Adrenal insufficiency	HP:0040283	ORPHA:251510
4214	MAP3K1	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0000812	Abnormal internal genitalia	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0000823	Delayed puberty	HP:0040282	ORPHA:251510
4214	MAP3K1	HP:0003251	Male infertility	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0000939	Osteoporosis	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0012244	Abnormal sex determination	HP:0040281	ORPHA:251510
4214	MAP3K1	HP:0012245	Sex reversal	12/17	OMIM:613762
4221	MEN1	HP:0001176	Large hands	HP:0040281	ORPHA:99725
4221	MEN1	HP:0002494	Abnormal rapid eye movement sleep	HP:0040283	ORPHA:97279
4221	MEN1	HP:0001117	Sudden loss of visual acuity	HP:0040283	ORPHA:2965
4221	MEN1	HP:0500167	Hypergastrinemia	HP:0040282	ORPHA:652
4221	MEN1	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:652
4221	MEN1	HP:0100829	Galactorrhea	HP:0040282	ORPHA:652
4221	MEN1	HP:0100829	Galactorrhea	HP:0040281	ORPHA:2965
4221	MEN1	HP:0100829	Galactorrhea	HP:0040283	ORPHA:99725
4221	MEN1	HP:0001289	Confusion	HP:0040283	ORPHA:652
4221	MEN1	HP:0001254	Lethargy	HP:0040283	ORPHA:97279
4221	MEN1	HP:0001254	Lethargy	HP:0040283	ORPHA:652
4221	MEN1	HP:0001250	Seizure	HP:0040281	ORPHA:97279
4221	MEN1	HP:0001250	Seizure	HP:0040283	ORPHA:2965
4221	MEN1	HP:0002591	Polyphagia	HP:0040282	ORPHA:97279
4221	MEN1	HP:0002588	Duodenal ulcer	HP:0040283	ORPHA:652
4221	MEN1	HP:0001259	Coma	HP:0040283	ORPHA:97279
4221	MEN1	HP:0001259	Coma	HP:0040284	ORPHA:652
4221	MEN1	HP:0007449	Confetti-like hypopigmented macules	HP:0040283	ORPHA:652
4221	MEN1	HP:0007449	Confetti-like hypopigmented macules	-	OMIM:131100
4221	MEN1	HP:0031058	Impairment of activities of daily living	HP:0040281	ORPHA:652
4221	MEN1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:99879
4221	MEN1	HP:0000098	Tall stature	HP:0040281	ORPHA:99725
4221	MEN1	HP:0012051	Reactive hypoglycemia	HP:0040282	ORPHA:97279
4221	MEN1	HP:0012041	Decreased fertility in males	HP:0040281	ORPHA:2965
4221	MEN1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:2965
4221	MEN1	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:2965
4221	MEN1	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:652
4221	MEN1	HP:0001337	Tremor	HP:0040281	ORPHA:97279
4221	MEN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131100
4221	MEN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:145000
4221	MEN1	HP:0002666	Pheochromocytoma	HP:0040284	ORPHA:652
4221	MEN1	HP:0002615	Hypotension	HP:0040282	ORPHA:2965
4221	MEN1	HP:0012197	Insulinoma	HP:0040283	ORPHA:652
4221	MEN1	HP:0012197	Insulinoma	3/30	OMIM:131100
4221	MEN1	HP:0000169	Gingival fibromatosis	HP:0040283	ORPHA:652
4221	MEN1	HP:0000141	Amenorrhea	HP:0040283	ORPHA:652
4221	MEN1	HP:0000141	Amenorrhea	HP:0040281	ORPHA:2965
4221	MEN1	HP:0000141	Amenorrhea	HP:0040282	ORPHA:99725
4221	MEN1	HP:0000140	Abnormality of the menstrual cycle	HP:0040281	ORPHA:2965
4221	MEN1	HP:0000135	Hypogonadism	HP:0040281	ORPHA:2965
4221	MEN1	HP:0002797	Osteolysis	HP:0040283	ORPHA:652
4221	MEN1	HP:0000121	Nephrocalcinosis	HP:0040281	ORPHA:99879
4221	MEN1	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:2965
4221	MEN1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:652
4221	MEN1	HP:0002018	Nausea	HP:0040283	ORPHA:652
4221	MEN1	HP:0002019	Constipation	HP:0040283	ORPHA:652
4221	MEN1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:2965
4221	MEN1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:652
4221	MEN1	HP:0040306	Decreased male libido	HP:0040282	ORPHA:652
4221	MEN1	HP:0002014	Diarrhea	HP:0040282	ORPHA:652
4221	MEN1	HP:0002014	Diarrhea	-	OMIM:131100
4221	MEN1	HP:0002013	Vomiting	HP:0040282	ORPHA:2965
4221	MEN1	HP:0002013	Vomiting	HP:0040283	ORPHA:652
4221	MEN1	HP:0002007	Frontal bossing	HP:0040281	ORPHA:99725
4221	MEN1	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:97279
4221	MEN1	HP:0005978	Type II diabetes mellitus	HP:0040281	ORPHA:99725
4221	MEN1	HP:0100522	Thymoma	HP:0040284	ORPHA:652
4221	MEN1	HP:0002044	Zollinger-Ellison syndrome	HP:0040282	ORPHA:652
4221	MEN1	HP:0002044	Zollinger-Ellison syndrome	HP:0040282	ORPHA:97279
4221	MEN1	HP:0002044	Zollinger-Ellison syndrome	-	OMIM:131100
4221	MEN1	HP:0002039	Anorexia	HP:0040283	ORPHA:652
4221	MEN1	HP:0003388	Easy fatigability	HP:0040282	ORPHA:2965
4221	MEN1	HP:0011762	Pituitary thyrotropic cell adenoma	HP:0040284	ORPHA:652
4221	MEN1	HP:0011759	Pituitary gonadotropic cell adenoma	HP:0040284	ORPHA:652
4221	MEN1	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040283	ORPHA:652
4221	MEN1	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040281	ORPHA:99725
4221	MEN1	HP:0011761	Pituitary null cell adenoma	HP:0040284	ORPHA:652
4221	MEN1	HP:0011748	Adrenocorticotropic hormone deficiency	HP:0040282	ORPHA:2965
4221	MEN1	HP:0100570	Carcinoid tumor	HP:0040283	ORPHA:652
4221	MEN1	HP:0100570	Carcinoid tumor	5/30	OMIM:131100
4221	MEN1	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:2965
4221	MEN1	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	HP:0040282	ORPHA:2965
4221	MEN1	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:652
4221	MEN1	HP:0002150	Hypercalciuria	HP:0040281	ORPHA:99879
4221	MEN1	HP:0002148	Hypophosphatemia	HP:0040281	ORPHA:99879
4221	MEN1	HP:0008256	Adrenocortical adenoma	58/354	OMIM:131100
4221	MEN1	HP:0008240	Secondary growth hormone deficiency	HP:0040282	ORPHA:2965
4221	MEN1	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:2965
4221	MEN1	HP:0010534	Transient global amnesia	HP:0040281	ORPHA:97279
4221	MEN1	HP:0008200	Primary hyperparathyroidism	HP:0040281	ORPHA:652
4221	MEN1	HP:0008200	Primary hyperparathyroidism	-	OMIM:145000
4221	MEN1	HP:0008200	Primary hyperparathyroidism	HP:0040281	ORPHA:99879
4221	MEN1	HP:0008200	Primary hyperparathyroidism	HP:0040282	ORPHA:97279
4221	MEN1	HP:0008208	Parathyroid hyperplasia	HP:0040281	ORPHA:652
4221	MEN1	HP:0003401	Paresthesia	HP:0040283	ORPHA:97279
4221	MEN1	HP:0008291	Pituitary corticotropic cell adenoma	HP:0040284	ORPHA:652
4221	MEN1	HP:0008283	Fasting hyperinsulinemia	HP:0040281	ORPHA:97279
4221	MEN1	HP:0008261	Pancreatic islet cell adenoma	-	OMIM:131100
4221	MEN1	HP:0003581	Adult onset	-	OMIM:131100
4221	MEN1	HP:0002249	Melena	HP:0040283	ORPHA:652
4221	MEN1	HP:0002248	Hematemesis	HP:0040283	ORPHA:652
4221	MEN1	HP:0003528	Elevated circulating calcitonin concentration	HP:0040284	ORPHA:652
4221	MEN1	HP:0100785	Insomnia	HP:0040283	ORPHA:97279
4221	MEN1	HP:0009720	Adenoma sebaceum	-	OMIM:131100
4221	MEN1	HP:0007011	Fourth cranial nerve palsy	HP:0040283	ORPHA:2965
4221	MEN1	HP:0032044	Decreased vigilance	HP:0040283	ORPHA:652
4221	MEN1	HP:0010615	Angiofibromas	HP:0040281	ORPHA:652
4221	MEN1	HP:0001031	Subcutaneous lipoma	-	OMIM:131100
4221	MEN1	HP:0001012	Multiple lipomas	HP:0040282	ORPHA:652
4221	MEN1	HP:0002321	Vertigo	HP:0040283	ORPHA:2965
4221	MEN1	HP:0002315	Headache	HP:0040282	ORPHA:2965
4221	MEN1	HP:0002315	Headache	HP:0040283	ORPHA:652
4221	MEN1	HP:0010832	Abnormality of pain sensation	HP:0040283	ORPHA:97279
4221	MEN1	HP:0100633	Esophagitis	-	OMIM:131100
4221	MEN1	HP:0100634	Neuroendocrine neoplasm	HP:0040283	ORPHA:97279
4221	MEN1	HP:0100631	Neoplasm of the adrenal gland	HP:0040283	ORPHA:97279
4221	MEN1	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:2965
4221	MEN1	HP:0007159	Fluctuations in consciousness	HP:0040282	ORPHA:97279
4221	MEN1	HP:0030517	Heteronymous hemianopia	HP:0040283	ORPHA:2965
4221	MEN1	HP:0030521	Bitemporal hemianopia	HP:0040283	ORPHA:2965
4221	MEN1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:2965
4221	MEN1	HP:0006897	Abducens palsy	HP:0040283	ORPHA:2965
4221	MEN1	HP:0001962	Palpitations	HP:0040281	ORPHA:97279
4221	MEN1	HP:0000651	Diplopia	HP:0040283	ORPHA:2965
4221	MEN1	HP:0000618	Blindness	HP:0040283	ORPHA:2965
4221	MEN1	HP:0001944	Dehydration	HP:0040283	ORPHA:652
4221	MEN1	HP:0001943	Hypoglycemia	-	OMIM:131100
4221	MEN1	HP:0001958	Nonketotic hypoglycemia	HP:0040281	ORPHA:97279
4221	MEN1	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:2965
4221	MEN1	HP:0001988	Recurrent hypoglycemia	HP:0040281	ORPHA:97279
4221	MEN1	HP:0004324	Increased body weight	HP:0040282	ORPHA:97279
4221	MEN1	HP:0005605	Large cafe-au-lait macules with irregular margins	HP:0040282	ORPHA:652
4221	MEN1	HP:0005616	Accelerated skeletal maturation	HP:0040281	ORPHA:99725
4221	MEN1	HP:0003072	Hypercalcemia	-	OMIM:145000
4221	MEN1	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:652
4221	MEN1	HP:0003072	Hypercalcemia	-	OMIM:131100
4221	MEN1	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:99879
4221	MEN1	HP:0000802	Impotence	HP:0040282	ORPHA:652
4221	MEN1	HP:0000802	Impotence	HP:0040281	ORPHA:2965
4221	MEN1	HP:0004398	Peptic ulcer	HP:0040282	ORPHA:652
4221	MEN1	HP:0004398	Peptic ulcer	-	OMIM:131100
4221	MEN1	HP:0004372	Reduced consciousness	HP:0040282	ORPHA:97279
4221	MEN1	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:652
4221	MEN1	HP:0011407	Proportionate tall stature	HP:0040283	ORPHA:652
4221	MEN1	HP:0011407	Proportionate tall stature	HP:0040281	ORPHA:99725
4221	MEN1	HP:0000771	Gynecomastia	HP:0040282	ORPHA:2965
4221	MEN1	HP:0000739	Anxiety	HP:0040283	ORPHA:97279
4221	MEN1	HP:0000736	Short attention span	HP:0040283	ORPHA:652
4221	MEN1	HP:0000716	Depression	HP:0040283	ORPHA:652
4221	MEN1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:97279
4221	MEN1	HP:0011458	Abdominal symptom	HP:0040283	ORPHA:99879
4221	MEN1	HP:0011446	Abnormality of mental function	HP:0040283	ORPHA:97279
4221	MEN1	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:652
4221	MEN1	HP:0003109	Hyperphosphaturia	HP:0040281	ORPHA:99879
4221	MEN1	HP:0003118	Increased circulating cortisol level	HP:0040283	ORPHA:652
4221	MEN1	HP:0003118	Increased circulating cortisol level	-	OMIM:131100
4221	MEN1	HP:0003165	Elevated circulating parathyroid hormone level	HP:0040281	ORPHA:99879
4221	MEN1	HP:0003144	Increased serum serotonin	HP:0040284	ORPHA:652
4221	MEN1	HP:0000858	Irregular menstruation	HP:0040281	ORPHA:2965
4221	MEN1	HP:0000854	Thyroid adenoma	-	OMIM:131100
4221	MEN1	HP:0000853	Goiter	HP:0040283	ORPHA:652
4221	MEN1	HP:0000870	Increased circulating prolactin concentration	-	OMIM:131100
4221	MEN1	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:99725
4221	MEN1	HP:0000868	Decreased fertility in females	HP:0040281	ORPHA:2965
4221	MEN1	HP:0000830	Anterior hypopituitarism	HP:0040283	ORPHA:2965
4221	MEN1	HP:0000849	Adrenocortical abnormality	HP:0040282	ORPHA:652
4221	MEN1	HP:0000845	Elevated circulating growth hormone concentration	HP:0040283	ORPHA:652
4221	MEN1	HP:0000845	Elevated circulating growth hormone concentration	-	OMIM:131100
4221	MEN1	HP:0000845	Elevated circulating growth hormone concentration	HP:0040283	ORPHA:2965
4221	MEN1	HP:0000845	Elevated circulating growth hormone concentration	HP:0040281	ORPHA:99725
4221	MEN1	HP:0000842	Hyperinsulinemia	HP:0040281	ORPHA:97279
4221	MEN1	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040281	ORPHA:97279
4221	MEN1	HP:0000822	Hypertension	HP:0040283	ORPHA:652
4221	MEN1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:2965
4221	MEN1	HP:0040085	Abnormal circulating aldosterone concentration	HP:0040283	ORPHA:652
4221	MEN1	HP:0000980	Pallor	HP:0040282	ORPHA:2965
4221	MEN1	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:97279
4221	MEN1	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:99725
4221	MEN1	HP:0000957	Cafe-au-lait spot	-	OMIM:131100
4221	MEN1	HP:0000939	Osteoporosis	HP:0040282	ORPHA:2965
4221	MEN1	HP:0000938	Osteopenia	HP:0040282	ORPHA:2965
4221	MEN1	HP:0000938	Osteopenia	HP:0040281	ORPHA:99879
4221	MEN1	HP:0000934	Chondrocalcinosis	HP:0040281	ORPHA:99879
4221	MEN1	HP:0040160	Generalized osteoporosis	HP:0040281	ORPHA:99879
4221	MEN1	HP:0000280	Coarse facial features	HP:0040281	ORPHA:99725
4221	MEN1	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:2965
4221	MEN1	HP:0006476	Abnormality of the pancreatic islet cells	HP:0040281	ORPHA:97279
4221	MEN1	HP:0012232	Shortened QT interval	HP:0040283	ORPHA:652
4221	MEN1	HP:0002897	Parathyroid adenoma	-	OMIM:131100
4221	MEN1	HP:0002897	Parathyroid adenoma	HP:0040281	ORPHA:99879
4221	MEN1	HP:0001579	Primary hypercortisolism	HP:0040283	ORPHA:652
4221	MEN1	HP:0002894	Neoplasm of the pancreas	HP:0040282	ORPHA:652
4221	MEN1	HP:0002893	Pituitary adenoma	HP:0040282	ORPHA:652
4221	MEN1	HP:0002893	Pituitary adenoma	164/354	OMIM:131100
4221	MEN1	HP:0002890	Thyroid carcinoma	HP:0040283	ORPHA:652
4221	MEN1	HP:0002888	Ependymoma	HP:0040284	ORPHA:652
4221	MEN1	HP:0030018	Decreased female libido	HP:0040281	ORPHA:2965
4221	MEN1	HP:0030016	Dyspareunia	HP:0040282	ORPHA:2965
4221	MEN1	HP:0002858	Meningioma	HP:0040283	ORPHA:652
4221	MEN1	HP:0012378	Fatigue	HP:0040282	ORPHA:2965
4221	MEN1	HP:0012378	Fatigue	HP:0040283	ORPHA:97279
4221	MEN1	HP:0012377	Hemianopia	HP:0040283	ORPHA:2965
4221	MEN1	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:2965
4221	MEN1	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:97279
4221	MEN1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:99725
4221	MEN1	HP:0000303	Mandibular prognathia	HP:0040281	ORPHA:99725
4221	MEN1	HP:0007942	Internal ophthalmoplegia	HP:0040283	ORPHA:2965
4221	MEN1	HP:0011151	Atypical absence status epilepticus	HP:0040284	ORPHA:652
4221	MEN1	HP:0001712	Left ventricular hypertrophy	HP:0040281	ORPHA:99725
4221	MEN1	HP:0030269	Increased circulating insulin-like growth factor 1 concentration	HP:0040281	ORPHA:99725
4221	MEN1	HP:0012411	Premature pubarche	HP:0040281	ORPHA:99725
4221	MEN1	HP:0006744	Adrenocortical carcinoma	HP:0040283	ORPHA:652
4221	MEN1	HP:0030405	Pancreatic endocrine tumor	HP:0040283	ORPHA:652
4221	MEN1	HP:0030404	Glucagonoma	HP:0040284	ORPHA:652
4221	MEN1	HP:0030404	Glucagonoma	-	OMIM:131100
4221	MEN1	HP:0006723	Intestinal carcinoid	HP:0040283	ORPHA:652
4221	MEN1	HP:0030445	Pulmonary carcinoid tumor	HP:0040284	ORPHA:652
4221	MEN1	HP:0006780	Parathyroid carcinoma	HP:0040284	ORPHA:652
4221	MEN1	HP:0006767	Pituitary prolactin cell adenoma	HP:0040282	ORPHA:652
4221	MEN1	HP:0006767	Pituitary prolactin cell adenoma	HP:0040282	ORPHA:99725
4221	MEN1	HP:0006767	Pituitary prolactin cell adenoma	HP:0040282	ORPHA:97279
4221	MEN1	HP:0006767	Pituitary prolactin cell adenoma	22/40	OMIM:131100
4221	MEN1	HP:0012503	Abnormal pituitary gland morphology	HP:0040281	ORPHA:2965
4221	MEN1	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:2965
4221	MEN1	HP:0001824	Weight loss	HP:0040282	ORPHA:652
4221	MEN1	HP:0000508	Ptosis	HP:0040283	ORPHA:2965
4221	MEN1	HP:0001833	Long foot	HP:0040281	ORPHA:99725
4221	MEN1	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:97279
4222	MEOX1	HP:0002414	Spina bifida	HP:0040283	ORPHA:2345
4222	MEOX1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4222	MEOX1	HP:0001293	Cranial nerve compression	-	OMIM:131300
4222	MEOX1	HP:0001291	Abnormal cranial nerve morphology	HP:0040283	ORPHA:2345
4222	MEOX1	HP:0001252	Hypotonia	2/7	OMIM:615777
4222	MEOX1	HP:0001249	Intellectual disability	5/7	OMIM:615777
4222	MEOX1	HP:0001263	Global developmental delay	-	OMIM:615777
4222	MEOX1	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2345
4222	MEOX1	HP:0002515	Waddling gait	54/102	OMIM:131300
4222	MEOX1	HP:0034980	Synkinesis	HP:0040283	ORPHA:2345
4222	MEOX1	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:2345
4222	MEOX1	HP:0001382	Joint hypermobility	-	OMIM:615777
4222	MEOX1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4222	MEOX1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4222	MEOX1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4222	MEOX1	HP:0001324	Muscle weakness	40/96	OMIM:131300
4222	MEOX1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4222	MEOX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4222	MEOX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:214300
4222	MEOX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4222	MEOX1	HP:0002650	Scoliosis	HP:0040282	ORPHA:2345
4222	MEOX1	HP:0002650	Scoliosis	-	OMIM:214300
4222	MEOX1	HP:0002650	Scoliosis	12/14	OMIM:131300
4222	MEOX1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4222	MEOX1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4222	MEOX1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4222	MEOX1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4222	MEOX1	HP:0000175	Cleft palate	-	OMIM:214300
4222	MEOX1	HP:0000175	Cleft palate	HP:0040283	ORPHA:2345
4222	MEOX1	HP:0000175	Cleft palate	2/7	OMIM:615777
4222	MEOX1	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:2345
4222	MEOX1	HP:0002023	Anal atresia	HP:0040283	ORPHA:2345
4222	MEOX1	HP:0005988	Congenital muscular torticollis	HP:0040282	ORPHA:2345
4222	MEOX1	HP:0005986	Limitation of neck motion	HP:0040281	ORPHA:2345
4222	MEOX1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2345
4222	MEOX1	HP:0003388	Easy fatigability	36/76	OMIM:131300
4222	MEOX1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4222	MEOX1	HP:0004602	Cervical C2/C3 vertebral fusion	HP:0040281	ORPHA:2345
4222	MEOX1	HP:0004602	Cervical C2/C3 vertebral fusion	-	OMIM:214300
4222	MEOX1	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:2345
4222	MEOX1	HP:0002162	Low posterior hairline	-	OMIM:214300
4222	MEOX1	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:2345
4222	MEOX1	HP:0003510	Severe short stature	7/7	OMIM:615777
4222	MEOX1	HP:0002315	Headache	-	OMIM:131300
4222	MEOX1	HP:0002315	Headache	HP:0040282	ORPHA:2345
4222	MEOX1	HP:0004976	Knee dislocation	6/7	OMIM:615777
4222	MEOX1	HP:0009803	Short phalanx of finger	-	OMIM:615777
4222	MEOX1	HP:0009763	Limb pain	63/92	OMIM:131300
4222	MEOX1	HP:0003621	Juvenile onset	-	OMIM:131300
4222	MEOX1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4222	MEOX1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4222	MEOX1	HP:6001056	Out-toeing	-	OMIM:131300
4222	MEOX1	HP:0000651	Diplopia	-	OMIM:131300
4222	MEOX1	HP:0001956	Truncal obesity	2/7	OMIM:615777
4222	MEOX1	HP:0001903	Anemia	HP:0040283	OMIM:131300
4222	MEOX1	HP:0010049	Short metacarpal	-	OMIM:615777
4222	MEOX1	HP:0000678	Dental crowding	-	OMIM:615777
4222	MEOX1	HP:0000670	Carious teeth	-	OMIM:131300
4222	MEOX1	HP:0011304	Broad thumb	2/7	OMIM:615777
4222	MEOX1	HP:0000668	Hypodontia	-	OMIM:615777
4222	MEOX1	HP:0000664	Synophrys	-	OMIM:615777
4222	MEOX1	HP:0005640	Abnormal vertebral segmentation and fusion	HP:0040281	ORPHA:2345
4222	MEOX1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2345
4222	MEOX1	HP:0004397	Ectopic anus	HP:0040283	ORPHA:2345
4222	MEOX1	HP:0004396	Poor appetite	-	OMIM:131300
4222	MEOX1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4222	MEOX1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4222	MEOX1	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:2345
4222	MEOX1	HP:0003043	Abnormal shoulder morphology	HP:0040282	ORPHA:2345
4222	MEOX1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4222	MEOX1	HP:0003026	Short long bone	7/7	OMIM:615777
4222	MEOX1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4222	MEOX1	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:2345
4222	MEOX1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4222	MEOX1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4222	MEOX1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4222	MEOX1	HP:0000750	Delayed speech and language development	-	OMIM:615777
4222	MEOX1	HP:0011461	Fetal onset	7/7	OMIM:615777
4222	MEOX1	HP:0000774	Narrow chest	2/7	OMIM:615777
4222	MEOX1	HP:0000912	Sprengel anomaly	HP:0040282	ORPHA:2345
4222	MEOX1	HP:0000912	Sprengel anomaly	-	OMIM:214300
4222	MEOX1	HP:0000925	Abnormality of the vertebral column	HP:0040281	ORPHA:2345
4222	MEOX1	HP:0000926	Platyspondyly	1/7	OMIM:615777
4222	MEOX1	HP:0003180	Flat acetabular roof	-	OMIM:615777
4222	MEOX1	HP:0004482	Relative macrocephaly	-	OMIM:615777
4222	MEOX1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4222	MEOX1	HP:0000823	Delayed puberty	-	OMIM:131300
4222	MEOX1	HP:0000894	Short clavicles	-	OMIM:615777
4222	MEOX1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4222	MEOX1	HP:0003298	Spina bifida occulta	HP:0040282	ORPHA:2345
4222	MEOX1	HP:0030833	Neck pain	HP:0040282	ORPHA:2345
4222	MEOX1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4222	MEOX1	HP:0000286	Epicanthus	1/7	OMIM:615777
4222	MEOX1	HP:0000280	Coarse facial features	2/7	OMIM:615777
4222	MEOX1	HP:0005107	Abnormal sacrum morphology	HP:0040283	ORPHA:2345
4222	MEOX1	HP:0002827	Hip dislocation	3/7	OMIM:615777
4222	MEOX1	HP:0000252	Microcephaly	-	OMIM:615777
4222	MEOX1	HP:0002857	Genu valgum	-	OMIM:131300
4222	MEOX1	HP:0001533	Slender build	-	OMIM:131300
4222	MEOX1	HP:0000204	Cleft upper lip	-	OMIM:214300
4222	MEOX1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4222	MEOX1	HP:0007807	Optic nerve compression	-	OMIM:131300
4222	MEOX1	HP:0012368	Flat face	7/7	OMIM:615777
4222	MEOX1	HP:0000377	Abnormal pinna morphology	-	OMIM:214300
4222	MEOX1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4222	MEOX1	HP:0002949	Fused cervical vertebrae	-	OMIM:214300
4222	MEOX1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:2345
4222	MEOX1	HP:0000365	Hearing impairment	10/67	OMIM:131300
4222	MEOX1	HP:0000343	Long philtrum	1/7	OMIM:615777
4222	MEOX1	HP:0011001	Increased bone mineral density	-	OMIM:131300
4222	MEOX1	HP:0000311	Round face	2/7	OMIM:615777
4222	MEOX1	HP:0000324	Facial asymmetry	HP:0040281	ORPHA:2345
4222	MEOX1	HP:0001629	Ventricular septal defect	-	OMIM:214300
4222	MEOX1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:2345
4222	MEOX1	HP:0002970	Genu varum	-	OMIM:615777
4222	MEOX1	HP:0000303	Mandibular prognathia	-	OMIM:131300
4222	MEOX1	HP:0000407	Sensorineural hearing impairment	-	OMIM:214300
4222	MEOX1	HP:0000405	Conductive hearing impairment	-	OMIM:214300
4222	MEOX1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4222	MEOX1	HP:0000470	Short neck	-	OMIM:214300
4222	MEOX1	HP:0000470	Short neck	HP:0040281	ORPHA:2345
4222	MEOX1	HP:0000470	Short neck	1/7	OMIM:615777
4222	MEOX1	HP:0000466	Limited neck range of motion	-	OMIM:214300
4222	MEOX1	HP:0000465	Webbed neck	HP:0040281	ORPHA:2345
4222	MEOX1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4222	MEOX1	HP:0001763	Pes planus	1/7	OMIM:615777
4222	MEOX1	HP:0001840	Metatarsus adductus	-	OMIM:615777
4222	MEOX1	HP:0000520	Proptosis	2/4	OMIM:131300
4222	MEOX1	HP:0000520	Proptosis	7/7	OMIM:615777
4222	MEOX1	HP:0000592	Blue sclerae	2/7	OMIM:615777
4222	MEOX1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4222	MEOX1	HP:0012514	Lower limb pain	4/4	OMIM:131300
4233	MET	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4233	MET	HP:0001293	Cranial nerve compression	-	OMIM:131300
4233	MET	HP:0001252	Hypotonia	2/7	OMIM:615777
4233	MET	HP:0001249	Intellectual disability	5/7	OMIM:615777
4233	MET	HP:0001263	Global developmental delay	-	OMIM:615777
4233	MET	HP:0006077	Absent proximal finger flexion creases	10/11	OMIM:620019
4233	MET	HP:0002515	Waddling gait	54/102	OMIM:131300
4233	MET	HP:0003829	Typified by incomplete penetrance	-	OMIM:605074
4233	MET	HP:0001395	Hepatic fibrosis	HP:0040281	ORPHA:33402
4233	MET	HP:0001382	Joint hypermobility	-	OMIM:615777
4233	MET	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4233	MET	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4233	MET	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4233	MET	HP:0001324	Muscle weakness	40/96	OMIM:131300
4233	MET	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4233	MET	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4233	MET	HP:0000007	Autosomal recessive inheritance	-	OMIM:616705
4233	MET	HP:0000006	Autosomal dominant inheritance	-	OMIM:605074
4233	MET	HP:0000006	Autosomal dominant inheritance	-	OMIM:607278
4233	MET	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4233	MET	HP:0000006	Autosomal dominant inheritance	-	OMIM:620019
4233	MET	HP:0002650	Scoliosis	12/14	OMIM:131300
4233	MET	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4233	MET	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4233	MET	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4233	MET	HP:0002605	Hepatic necrosis	HP:0040282	ORPHA:33402
4233	MET	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4233	MET	HP:0000175	Cleft palate	2/7	OMIM:615777
4233	MET	HP:0410019	Epigastric pain	HP:0040282	ORPHA:33402
4233	MET	HP:0006254	Elevated circulating alpha-fetoprotein concentration	HP:0040281	ORPHA:33402
4233	MET	HP:0002756	Pathologic fracture	6/6	OMIM:607278
4233	MET	HP:0001442	Typified by somatic mosaicism	-	OMIM:114550
4233	MET	HP:0001442	Typified by somatic mosaicism	-	OMIM:605074
4233	MET	HP:0001402	Hepatocellular carcinoma	-	OMIM:114550
4233	MET	HP:0001413	Micronodular cirrhosis	-	OMIM:114550
4233	MET	HP:0002027	Abdominal pain	HP:0040281	ORPHA:33402
4233	MET	HP:0002013	Vomiting	HP:0040282	ORPHA:33402
4233	MET	HP:0003388	Easy fatigability	36/76	OMIM:131300
4233	MET	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4233	MET	HP:0003577	Congenital onset	12/12	OMIM:620019
4233	MET	HP:0003577	Congenital onset	-	OMIM:607278
4233	MET	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:33402
4233	MET	HP:0003510	Severe short stature	7/7	OMIM:615777
4233	MET	HP:0002315	Headache	-	OMIM:131300
4233	MET	HP:0004976	Knee dislocation	6/7	OMIM:615777
4233	MET	HP:0009803	Short phalanx of finger	-	OMIM:615777
4233	MET	HP:0009763	Limb pain	63/92	OMIM:131300
4233	MET	HP:0003621	Juvenile onset	-	OMIM:131300
4233	MET	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4233	MET	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4233	MET	HP:6001056	Out-toeing	-	OMIM:131300
4233	MET	HP:0000651	Diplopia	-	OMIM:131300
4233	MET	HP:0001956	Truncal obesity	2/7	OMIM:615777
4233	MET	HP:0001903	Anemia	HP:0040283	OMIM:131300
4233	MET	HP:0010049	Short metacarpal	-	OMIM:615777
4233	MET	HP:0000678	Dental crowding	-	OMIM:615777
4233	MET	HP:0000670	Carious teeth	-	OMIM:131300
4233	MET	HP:0011304	Broad thumb	2/7	OMIM:615777
4233	MET	HP:0000668	Hypodontia	-	OMIM:615777
4233	MET	HP:0000664	Synophrys	-	OMIM:615777
4233	MET	HP:0004396	Poor appetite	-	OMIM:131300
4233	MET	HP:0003038	Fibular hypoplasia	HP:0040283	OMIM:607278
4233	MET	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4233	MET	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4233	MET	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4233	MET	HP:0003026	Short long bone	7/7	OMIM:615777
4233	MET	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4233	MET	HP:0000767	Pectus excavatum	HP:0040283	OMIM:607278
4233	MET	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4233	MET	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4233	MET	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4233	MET	HP:0000750	Delayed speech and language development	-	OMIM:615777
4233	MET	HP:0011461	Fetal onset	7/7	OMIM:615777
4233	MET	HP:0000774	Narrow chest	2/7	OMIM:615777
4233	MET	HP:0000926	Platyspondyly	1/7	OMIM:615777
4233	MET	HP:0003180	Flat acetabular roof	-	OMIM:615777
4233	MET	HP:0004482	Relative macrocephaly	-	OMIM:615777
4233	MET	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4233	MET	HP:0000823	Delayed puberty	-	OMIM:131300
4233	MET	HP:0000894	Short clavicles	-	OMIM:615777
4233	MET	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4233	MET	HP:0005864	Pseudoarthrosis	-	OMIM:607278
4233	MET	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4233	MET	HP:0000286	Epicanthus	1/7	OMIM:615777
4233	MET	HP:0000280	Coarse facial features	2/7	OMIM:615777
4233	MET	HP:0002827	Hip dislocation	3/7	OMIM:615777
4233	MET	HP:0006394	Limited pronation/supination of forearm	7/11	OMIM:620019
4233	MET	HP:0000252	Microcephaly	-	OMIM:615777
4233	MET	HP:0002857	Genu valgum	-	OMIM:131300
4233	MET	HP:0001533	Slender build	-	OMIM:131300
4233	MET	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4233	MET	HP:0007807	Optic nerve compression	-	OMIM:131300
4233	MET	HP:0012378	Fatigue	HP:0040282	ORPHA:33402
4233	MET	HP:0012385	Camptodactyly	12/12	OMIM:620019
4233	MET	HP:0012368	Flat face	7/7	OMIM:615777
4233	MET	HP:0006572	Subacute progressive viral hepatitis	-	OMIM:114550
4233	MET	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4233	MET	HP:0000365	Hearing impairment	10/67	OMIM:131300
4233	MET	HP:0000343	Long philtrum	1/7	OMIM:615777
4233	MET	HP:0011001	Increased bone mineral density	-	OMIM:131300
4233	MET	HP:0000311	Round face	2/7	OMIM:615777
4233	MET	HP:0002970	Genu varum	-	OMIM:615777
4233	MET	HP:0000303	Mandibular prognathia	-	OMIM:131300
4233	MET	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:616705
4233	MET	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4233	MET	HP:0030242	Portal vein thrombosis	HP:0040282	ORPHA:33402
4233	MET	HP:0000470	Short neck	1/7	OMIM:615777
4233	MET	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4233	MET	HP:0001763	Pes planus	1/7	OMIM:615777
4233	MET	HP:0001762	Talipes equinovarus	0/12	OMIM:620019
4233	MET	HP:0006766	Papillary renal cell carcinoma	-	OMIM:605074
4233	MET	HP:0001848	Calcaneovalgus deformity	0/12	OMIM:620019
4233	MET	HP:0001840	Metatarsus adductus	-	OMIM:615777
4233	MET	HP:0001840	Metatarsus adductus	0/12	OMIM:620019
4233	MET	HP:0000520	Proptosis	2/4	OMIM:131300
4233	MET	HP:0000520	Proptosis	7/7	OMIM:615777
4233	MET	HP:0001838	Rocker bottom foot	0/12	OMIM:620019
4233	MET	HP:0000592	Blue sclerae	2/7	OMIM:615777
4233	MET	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4233	MET	HP:0012514	Lower limb pain	4/4	OMIM:131300
4247	MGAT2	HP:0001156	Brachydactyly	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0010864	Intellectual disability, severe	2/2	OMIM:212066
4247	MGAT2	HP:0500173	Reflex asystolic syncope	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0001290	Generalized hypotonia	1/3	OMIM:212066
4247	MGAT2	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0001276	Hypertonia	-	OMIM:212066
4247	MGAT2	HP:0001250	Seizure	2/3	OMIM:212066
4247	MGAT2	HP:0001250	Seizure	HP:0040282	ORPHA:79329
4247	MGAT2	HP:0001252	Hypotonia	HP:0040282	ORPHA:79329
4247	MGAT2	HP:0002578	Gastroparesis	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:79329
4247	MGAT2	HP:0002557	Hypoplastic nipples	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0010990	Abnormality of the common coagulation pathway	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0008897	Postnatal growth retardation	-	OMIM:212066
4247	MGAT2	HP:0007466	Midfrontal capillary hemangioma	-	OMIM:212066
4247	MGAT2	HP:0002673	Coxa valga	-	OMIM:212066
4247	MGAT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:212066
4247	MGAT2	HP:0002650	Scoliosis	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0001321	Cerebellar hypoplasia	0/3	OMIM:212066
4247	MGAT2	HP:0001321	Cerebellar hypoplasia	-	ORPHA:79329
4247	MGAT2	HP:0012171	Stereotypical hand wringing	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0012171	Stereotypical hand wringing	1/3	OMIM:212066
4247	MGAT2	HP:0000194	Open mouth	-	OMIM:212066
4247	MGAT2	HP:0000194	Open mouth	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0000154	Wide mouth	-	OMIM:212066
4247	MGAT2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0002098	Respiratory distress	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0003423	Thoracolumbar kyphoscoliosis	-	OMIM:212066
4247	MGAT2	HP:0009623	Proximal placement of thumb	-	OMIM:212066
4247	MGAT2	HP:0011858	Reduced factor IX activity	-	OMIM:212066
4247	MGAT2	HP:0003593	Infantile onset	3/3	OMIM:212066
4247	MGAT2	HP:0003540	Impaired platelet aggregation	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0200117	Recurrent upper and lower respiratory tract infections	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0004841	Reduced factor XII activity	-	OMIM:212066
4247	MGAT2	HP:0001007	Hirsutism	HP:0040283	OMIM:212066
4247	MGAT2	HP:0001007	Hirsutism	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0002317	Unsteady gait	-	OMIM:212066
4247	MGAT2	HP:0003655	Reduced level of N-acetylglucosaminyltransferase II	HP:0040281	ORPHA:79329
4247	MGAT2	HP:0009830	Peripheral neuropathy	-	ORPHA:79329
4247	MGAT2	HP:0010808	Protruding tongue	-	OMIM:212066
4247	MGAT2	HP:0009765	Low hanging columella	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0009765	Low hanging columella	-	OMIM:212066
4247	MGAT2	HP:0001965	Abnormal scalp morphology	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0001976	Reduced antithrombin III activity	-	OMIM:212066
4247	MGAT2	HP:0001929	Reduced factor XI activity	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0001929	Reduced factor XI activity	-	OMIM:212066
4247	MGAT2	HP:0000699	Diastema	-	OMIM:212066
4247	MGAT2	HP:0011344	Severe global developmental delay	3/3	OMIM:212066
4247	MGAT2	HP:0000678	Dental crowding	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:79329
4247	MGAT2	HP:0004322	Short stature	-	OMIM:212066
4247	MGAT2	HP:0004315	Decreased circulating IgG concentration	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0000767	Pectus excavatum	1/3	OMIM:212066
4247	MGAT2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0000733	Motor stereotypy	11/13	OMIM:212066
4247	MGAT2	HP:0000742	Self-mutilation	-	OMIM:212066
4247	MGAT2	HP:0000718	Aggressive behavior	-	OMIM:212066
4247	MGAT2	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0003100	Slender long bone	-	OMIM:212066
4247	MGAT2	HP:0003186	Inverted nipples	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0000938	Osteopenia	-	OMIM:212066
4247	MGAT2	HP:0000938	Osteopenia	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0008070	Sparse hair	HP:0040283	OMIM:212066
4247	MGAT2	HP:0011675	Arrhythmia	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0000278	Retrognathia	-	OMIM:212066
4247	MGAT2	HP:0000256	Macrocephaly	-	OMIM:212066
4247	MGAT2	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0002808	Kyphosis	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0001572	Macrodontia	2/3	OMIM:212066
4247	MGAT2	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:79329
4247	MGAT2	HP:0000252	Microcephaly	-	OMIM:212066
4247	MGAT2	HP:0000248	Brachycephaly	-	OMIM:212066
4247	MGAT2	HP:0001547	Abnormal rib cage morphology	-	OMIM:212066
4247	MGAT2	HP:0000212	Gingival overgrowth	2/3	OMIM:212066
4247	MGAT2	HP:0000233	Thin vermilion border	2/3	OMIM:212066
4247	MGAT2	HP:0000232	Everted lower lip vermilion	-	OMIM:212066
4247	MGAT2	HP:0001508	Failure to thrive	3/3	OMIM:212066
4247	MGAT2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79329
4247	MGAT2	HP:0031381	Decreased mitogen-induced T-cell proliferation	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0000395	Prominent antihelix	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0000363	Abnormal earlobe morphology	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0000358	Posteriorly rotated ears	-	OMIM:212066
4247	MGAT2	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0000369	Low-set ears	1/3	OMIM:212066
4247	MGAT2	HP:0000343	Long philtrum	2/3	OMIM:212066
4247	MGAT2	HP:0012301	Type II transferrin isoform profile	3/3	OMIM:212066
4247	MGAT2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0001629	Ventricular septal defect	2/3	OMIM:212066
4247	MGAT2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0000303	Mandibular prognathia	1/3	OMIM:212066
4247	MGAT2	HP:0006610	Wide intermamillary distance	2/3	OMIM:212066
4247	MGAT2	HP:0005387	Combined immunodeficiency	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0000407	Sensorineural hearing impairment	-	OMIM:212066
4247	MGAT2	HP:0000400	Macrotia	3/3	OMIM:212066
4247	MGAT2	HP:0012469	Infantile spasms	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0000494	Downslanted palpebral fissures	-	OMIM:212066
4247	MGAT2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0001789	Hydrops fetalis	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0000470	Short neck	2/3	OMIM:212066
4247	MGAT2	HP:0001763	Pes planus	-	OMIM:212066
4247	MGAT2	HP:0000444	Convex nasal ridge	2/3	OMIM:212066
4247	MGAT2	HP:0000444	Convex nasal ridge	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0000426	Prominent nasal bridge	-	OMIM:212066
4247	MGAT2	HP:0000527	Long eyelashes	-	OMIM:212066
4247	MGAT2	HP:0000527	Long eyelashes	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:79329
4247	MGAT2	HP:0000574	Thick eyebrow	-	OMIM:212066
4254	KITLG	HP:0001100	Heterochromia iridis	HP:0040282	ORPHA:895
4254	KITLG	HP:0001100	Heterochromia iridis	4/6	OMIM:619947
4254	KITLG	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:895
4254	KITLG	HP:0007505	Progressive hyperpigmentation	-	OMIM:145250
4254	KITLG	HP:0000007	Autosomal recessive inheritance	-	OMIM:619947
4254	KITLG	HP:0000006	Autosomal dominant inheritance	-	OMIM:145250
4254	KITLG	HP:0000006	Autosomal dominant inheritance	-	OMIM:616697
4254	KITLG	HP:0003593	Infantile onset	-	OMIM:145250
4254	KITLG	HP:0003577	Congenital onset	1/1	OMIM:619947
4254	KITLG	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:895
4254	KITLG	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:895
4254	KITLG	HP:0002216	Premature graying of hair	2/6	OMIM:619947
4254	KITLG	HP:0002211	White forelock	HP:0040282	ORPHA:895
4254	KITLG	HP:0002211	White forelock	3/6	OMIM:619947
4254	KITLG	HP:0001053	Hypopigmented skin patches	-	OMIM:145250
4254	KITLG	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:895
4254	KITLG	HP:0001034	Hypermelanotic macule	-	OMIM:145250
4254	KITLG	HP:0001034	Hypermelanotic macule	1/1	OMIM:619947
4254	KITLG	HP:0001045	Vitiligo	HP:0040283	OMIM:145250
4254	KITLG	HP:0001010	Hypopigmentation of the skin	7/7	OMIM:619947
4254	KITLG	HP:0001003	Multiple lentigines	-	OMIM:145250
4254	KITLG	HP:0008527	Congenital sensorineural hearing impairment	1/1	OMIM:619947
4254	KITLG	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:895
4254	KITLG	HP:0000635	Blue irides	1/1	OMIM:619947
4254	KITLG	HP:0011364	White hair	3/7	OMIM:619947
4254	KITLG	HP:0004414	Abnormality of the pulmonary artery	HP:0040283	ORPHA:895
4254	KITLG	HP:0000957	Cafe-au-lait spot	-	OMIM:145250
4254	KITLG	HP:0000957	Cafe-au-lait spot	1/1	OMIM:619947
4254	KITLG	HP:0000962	Hyperkeratosis	-	OMIM:145250
4254	KITLG	HP:0000365	Hearing impairment	HP:0040281	ORPHA:895
4254	KITLG	HP:0000407	Sensorineural hearing impairment	-	OMIM:616697
4254	KITLG	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:895
4254	KITLG	HP:0000407	Sensorineural hearing impairment	5/6	OMIM:619947
4254	KITLG	HP:0000506	Telecanthus	HP:0040283	ORPHA:895
4254	KITLG	HP:0000506	Telecanthus	1/1	OMIM:619947
4254	KITLG	HP:0000508	Ptosis	HP:0040283	ORPHA:895
4255	MGMT	HP:0003764	Nevus	HP:0040281	ORPHA:618
4255	MGMT	HP:0001480	Freckling	HP:0040282	ORPHA:618
4255	MGMT	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:618
4255	MGMT	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:618
4255	MGMT	HP:0100013	Neoplasm of the breast	HP:0040283	ORPHA:618
4255	MGMT	HP:0000958	Dry skin	HP:0040282	ORPHA:618
4255	MGMT	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:618
4255	MGMT	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:618
4255	MGMT	HP:0002861	Melanoma	HP:0040281	ORPHA:618
4255	MGMT	HP:0000488	Retinopathy	HP:0040283	ORPHA:618
4255	MGMT	HP:0006753	Neoplasm of the stomach	HP:0040283	ORPHA:618
4256	MGP	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:85202
4256	MGP	HP:0009882	Short distal phalanx of finger	-	OMIM:245150
4256	MGP	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4256	MGP	HP:0001293	Cranial nerve compression	-	OMIM:131300
4256	MGP	HP:0001256	Intellectual disability, mild	-	OMIM:245150
4256	MGP	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:85202
4256	MGP	HP:0001250	Seizure	HP:0040283	ORPHA:85202
4256	MGP	HP:0001250	Seizure	5/18	OMIM:245150
4256	MGP	HP:0001252	Hypotonia	2/7	OMIM:615777
4256	MGP	HP:0001249	Intellectual disability	5/7	OMIM:615777
4256	MGP	HP:0001263	Global developmental delay	HP:0040282	ORPHA:85202
4256	MGP	HP:0001263	Global developmental delay	10/17	OMIM:245150
4256	MGP	HP:0001263	Global developmental delay	-	OMIM:615777
4256	MGP	HP:0006118	Shortening of all distal phalanges of the fingers	20/20	OMIM:245150
4256	MGP	HP:0008747	Cartilaginous ossification of larynx	-	OMIM:245150
4256	MGP	HP:0002515	Waddling gait	54/102	OMIM:131300
4256	MGP	HP:0002514	Cerebral calcification	-	OMIM:245150
4256	MGP	HP:0001382	Joint hypermobility	-	OMIM:615777
4256	MGP	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4256	MGP	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4256	MGP	HP:0006140	Premature fusion of phalangeal epiphyses	-	OMIM:245150
4256	MGP	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4256	MGP	HP:0001324	Muscle weakness	40/96	OMIM:131300
4256	MGP	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4256	MGP	HP:0000007	Autosomal recessive inheritance	-	OMIM:245150
4256	MGP	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4256	MGP	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4256	MGP	HP:0002650	Scoliosis	12/14	OMIM:131300
4256	MGP	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4256	MGP	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4256	MGP	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4256	MGP	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4256	MGP	HP:0000175	Cleft palate	2/7	OMIM:615777
4256	MGP	HP:0002787	Tracheal calcification	-	OMIM:245150
4256	MGP	HP:0002002	Deep philtrum	-	OMIM:245150
4256	MGP	HP:0011800	Midface retrusion	12/12	OMIM:245150
4256	MGP	HP:0011800	Midface retrusion	HP:0040281	ORPHA:85202
4256	MGP	HP:0002097	Emphysema	-	OMIM:245150
4256	MGP	HP:0002092	Pulmonary arterial hypertension	HP:0040282	ORPHA:85202
4256	MGP	HP:0003388	Easy fatigability	36/76	OMIM:131300
4256	MGP	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4256	MGP	HP:0100593	Calcification of cartilage	HP:0040281	ORPHA:85202
4256	MGP	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:85202
4256	MGP	HP:0010655	Epiphyseal stippling	-	OMIM:245150
4256	MGP	HP:0003510	Severe short stature	7/7	OMIM:615777
4256	MGP	HP:0001027	Soft, doughy skin	HP:0040283	ORPHA:85202
4256	MGP	HP:0002315	Headache	-	OMIM:131300
4256	MGP	HP:0004976	Knee dislocation	6/7	OMIM:615777
4256	MGP	HP:0100682	Tracheal atresia	HP:0040281	ORPHA:85202
4256	MGP	HP:0009803	Short phalanx of finger	-	OMIM:615777
4256	MGP	HP:0009778	Short thumb	-	OMIM:245150
4256	MGP	HP:0009763	Limb pain	63/92	OMIM:131300
4256	MGP	HP:0004971	Pulmonary artery hypoplasia	-	OMIM:245150
4256	MGP	HP:0004969	Peripheral pulmonary artery stenosis	-	OMIM:245150
4256	MGP	HP:0003621	Juvenile onset	-	OMIM:131300
4256	MGP	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4256	MGP	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4256	MGP	HP:6001056	Out-toeing	-	OMIM:131300
4256	MGP	HP:0000651	Diplopia	-	OMIM:131300
4256	MGP	HP:0000648	Optic atrophy	HP:0040283	ORPHA:85202
4256	MGP	HP:0001956	Truncal obesity	2/7	OMIM:615777
4256	MGP	HP:0001903	Anemia	HP:0040283	OMIM:131300
4256	MGP	HP:0010049	Short metacarpal	-	OMIM:615777
4256	MGP	HP:0000678	Dental crowding	-	OMIM:615777
4256	MGP	HP:0000670	Carious teeth	-	OMIM:131300
4256	MGP	HP:0011304	Broad thumb	2/7	OMIM:615777
4256	MGP	HP:0000668	Hypodontia	-	OMIM:615777
4256	MGP	HP:0000664	Synophrys	-	OMIM:615777
4256	MGP	HP:0004322	Short stature	HP:0040283	ORPHA:85202
4256	MGP	HP:0004334	Dermal atrophy	HP:0040283	ORPHA:85202
4256	MGP	HP:0004396	Poor appetite	-	OMIM:131300
4256	MGP	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4256	MGP	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4256	MGP	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4256	MGP	HP:0003026	Short long bone	7/7	OMIM:615777
4256	MGP	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4256	MGP	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4256	MGP	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4256	MGP	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4256	MGP	HP:0000750	Delayed speech and language development	-	OMIM:615777
4256	MGP	HP:0011461	Fetal onset	7/7	OMIM:615777
4256	MGP	HP:0010109	Short hallux	-	OMIM:245150
4256	MGP	HP:0000774	Narrow chest	2/7	OMIM:615777
4256	MGP	HP:0004415	Pulmonary artery stenosis	HP:0040281	ORPHA:85202
4256	MGP	HP:0000926	Platyspondyly	1/7	OMIM:615777
4256	MGP	HP:0003180	Flat acetabular roof	-	OMIM:615777
4256	MGP	HP:0004482	Relative macrocephaly	-	OMIM:615777
4256	MGP	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4256	MGP	HP:0000822	Hypertension	-	OMIM:245150
4256	MGP	HP:0000823	Delayed puberty	-	OMIM:131300
4256	MGP	HP:0000894	Short clavicles	-	OMIM:615777
4256	MGP	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4256	MGP	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4256	MGP	HP:0000286	Epicanthus	1/7	OMIM:615777
4256	MGP	HP:0000280	Coarse facial features	2/7	OMIM:615777
4256	MGP	HP:0001596	Alopecia	HP:0040283	ORPHA:85202
4256	MGP	HP:0000276	Long face	HP:0040281	ORPHA:85202
4256	MGP	HP:0000276	Long face	-	OMIM:245150
4256	MGP	HP:0000272	Malar flattening	-	OMIM:245150
4256	MGP	HP:0005103	Calcification of the auricular cartilage	-	OMIM:245150
4256	MGP	HP:0002827	Hip dislocation	3/7	OMIM:615777
4256	MGP	HP:0000252	Microcephaly	-	OMIM:615777
4256	MGP	HP:0000246	Sinusitis	-	OMIM:245150
4256	MGP	HP:0002857	Genu valgum	-	OMIM:131300
4256	MGP	HP:0001533	Slender build	-	OMIM:131300
4256	MGP	HP:0001507	Growth abnormality	-	OMIM:245150
4256	MGP	HP:0002837	Recurrent bronchitis	-	OMIM:245150
4256	MGP	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4256	MGP	HP:0007807	Optic nerve compression	-	OMIM:131300
4256	MGP	HP:0012368	Flat face	7/7	OMIM:615777
4256	MGP	HP:0005268	Miscarriage	-	OMIM:245150
4256	MGP	HP:0006536	Airway obstruction	-	OMIM:245150
4256	MGP	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4256	MGP	HP:0001611	Hypernasal speech	-	OMIM:245150
4256	MGP	HP:0000365	Hearing impairment	12/17	OMIM:245150
4256	MGP	HP:0000365	Hearing impairment	HP:0040282	ORPHA:85202
4256	MGP	HP:0000365	Hearing impairment	10/67	OMIM:131300
4256	MGP	HP:0000340	Sloping forehead	HP:0040282	ORPHA:85202
4256	MGP	HP:0000343	Long philtrum	1/7	OMIM:615777
4256	MGP	HP:0011001	Increased bone mineral density	-	OMIM:131300
4256	MGP	HP:0000311	Round face	2/7	OMIM:615777
4256	MGP	HP:0001642	Pulmonic stenosis	-	OMIM:245150
4256	MGP	HP:0001629	Ventricular septal defect	-	OMIM:245150
4256	MGP	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:85202
4256	MGP	HP:0002970	Genu varum	-	OMIM:615777
4256	MGP	HP:0000303	Mandibular prognathia	-	OMIM:131300
4256	MGP	HP:0006646	Costal cartilage calcification	-	OMIM:245150
4256	MGP	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:85202
4256	MGP	HP:0000403	Recurrent otitis media	12/16	OMIM:245150
4256	MGP	HP:0000400	Macrotia	-	OMIM:245150
4256	MGP	HP:0005275	Cartilaginous ossification of nose	-	OMIM:245150
4256	MGP	HP:0005280	Depressed nasal bridge	15/15	OMIM:245150
4256	MGP	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:85202
4256	MGP	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4256	MGP	HP:0000470	Short neck	1/7	OMIM:615777
4256	MGP	HP:0011109	Chronic sinusitis	-	OMIM:245150
4256	MGP	HP:0011108	Recurrent sinusitis	HP:0040282	ORPHA:85202
4256	MGP	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4256	MGP	HP:0001763	Pes planus	1/7	OMIM:615777
4256	MGP	HP:0000445	Wide nose	HP:0040281	ORPHA:85202
4256	MGP	HP:0000431	Wide nasal bridge	15/15	OMIM:245150
4256	MGP	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:85202
4256	MGP	HP:0001840	Metatarsus adductus	-	OMIM:615777
4256	MGP	HP:0000520	Proptosis	2/4	OMIM:131300
4256	MGP	HP:0000520	Proptosis	7/7	OMIM:615777
4256	MGP	HP:0000592	Blue sclerae	2/7	OMIM:615777
4256	MGP	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4256	MGP	HP:0012514	Lower limb pain	4/4	OMIM:131300
4261	CIITA	HP:0032218	Decreased proportion of CD4-positive T cells	HP:0040282	ORPHA:572
4261	CIITA	HP:0002583	Colitis	-	OMIM:209920
4261	CIITA	HP:0001260	Dysarthria	HP:0040284	ORPHA:572
4261	CIITA	HP:0025347	Decreased circulating beta-2-microglobulin level	HP:0040282	ORPHA:572
4261	CIITA	HP:0001370	Rheumatoid arthritis	-	OMIM:180300
4261	CIITA	HP:0001386	Joint swelling	-	OMIM:180300
4261	CIITA	HP:0001387	Joint stiffness	-	OMIM:180300
4261	CIITA	HP:0006150	Swan neck-like deformities of the fingers	-	OMIM:180300
4261	CIITA	HP:0000010	Recurrent urinary tract infections	-	OMIM:209920
4261	CIITA	HP:0000007	Autosomal recessive inheritance	-	OMIM:209920
4261	CIITA	HP:0002633	Vasculitis	-	OMIM:180300
4261	CIITA	HP:0006252	Interphalangeal joint erosions	-	OMIM:180300
4261	CIITA	HP:0002783	Recurrent lower respiratory tract infections	-	OMIM:209920
4261	CIITA	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:209920
4261	CIITA	HP:0002718	Recurrent bacterial infections	HP:0040282	ORPHA:572
4261	CIITA	HP:0002718	Recurrent bacterial infections	-	OMIM:209920
4261	CIITA	HP:0002728	Chronic mucocutaneous candidiasis	HP:0040282	ORPHA:572
4261	CIITA	HP:0002728	Chronic mucocutaneous candidiasis	-	OMIM:209920
4261	CIITA	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040282	ORPHA:572
4261	CIITA	HP:0002024	Malabsorption	-	OMIM:209920
4261	CIITA	HP:0030991	Sclerosing cholangitis	HP:0040282	ORPHA:572
4261	CIITA	HP:0002014	Diarrhea	HP:0040282	ORPHA:572
4261	CIITA	HP:0002066	Gait ataxia	HP:0040284	ORPHA:572
4261	CIITA	HP:0004798	Recurrent infection of the gastrointestinal tract	HP:0040281	ORPHA:572
4261	CIITA	HP:0003565	Elevated erythrocyte sedimentation rate	-	OMIM:180300
4261	CIITA	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:572
4261	CIITA	HP:0200124	Chronic hepatitis due to cryptosporidium infection	HP:0040282	ORPHA:572
4261	CIITA	HP:0007041	Chronic lymphocytic meningitis	-	OMIM:209920
4261	CIITA	HP:0002383	Infectious encephalitis	-	OMIM:209920
4261	CIITA	HP:0001080	Biliary tract abnormality	-	OMIM:209920
4261	CIITA	HP:0001973	Autoimmune thrombocytopenia	HP:0040283	ORPHA:572
4261	CIITA	HP:0001945	Fever	-	OMIM:180300
4261	CIITA	HP:0001904	Autoimmune neutropenia	HP:0040283	ORPHA:572
4261	CIITA	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:572
4261	CIITA	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040282	ORPHA:572
4261	CIITA	HP:0004385	Protracted diarrhea	HP:0040282	ORPHA:572
4261	CIITA	HP:0004385	Protracted diarrhea	-	OMIM:209920
4261	CIITA	HP:0011473	Villous atrophy	-	OMIM:209920
4261	CIITA	HP:0005764	Polyarticular arthritis	-	OMIM:180300
4261	CIITA	HP:0004432	Agammaglobulinemia	-	OMIM:209920
4261	CIITA	HP:0004429	Recurrent viral infections	-	OMIM:209920
4261	CIITA	HP:0004429	Recurrent viral infections	HP:0040282	ORPHA:572
4261	CIITA	HP:0003139	Panhypogammaglobulinemia	HP:0040283	ORPHA:572
4261	CIITA	HP:0003139	Panhypogammaglobulinemia	-	OMIM:209920
4261	CIITA	HP:0000988	Skin rash	HP:0040283	ORPHA:572
4261	CIITA	HP:0033034	Anti-citrullinated protein antibody positivity	-	OMIM:180300
4261	CIITA	HP:0012276	Digital flexor tenosynovitis	-	OMIM:180300
4261	CIITA	HP:0031390	Reduced MHC II cell surface expression	HP:0040280	ORPHA:572
4261	CIITA	HP:0031394	Abnormal CD4:CD8 ratio	HP:0040283	ORPHA:572
4261	CIITA	HP:0002829	Arthralgia	-	OMIM:180300
4261	CIITA	HP:0000246	Sinusitis	HP:0040282	ORPHA:572
4261	CIITA	HP:0001508	Failure to thrive	-	OMIM:209920
4261	CIITA	HP:0001508	Failure to thrive	HP:0040282	ORPHA:572
4261	CIITA	HP:0031381	Decreased mitogen-induced T-cell proliferation	HP:0040283	ORPHA:572
4261	CIITA	HP:0002841	Recurrent fungal infections	HP:0040282	ORPHA:572
4261	CIITA	HP:0002841	Recurrent fungal infections	-	OMIM:209920
4261	CIITA	HP:0012378	Fatigue	-	OMIM:180300
4261	CIITA	HP:0012384	Rhinitis	HP:0040282	ORPHA:572
4261	CIITA	HP:0006562	Viral hepatitis	-	OMIM:209920
4261	CIITA	HP:0002923	Rheumatoid factor positive	-	OMIM:180300
4261	CIITA	HP:0000371	Acute otitis media	HP:0040283	ORPHA:572
4261	CIITA	HP:0030151	Cholangitis	-	OMIM:209920
4261	CIITA	HP:0002960	Autoimmunity	HP:0040283	ORPHA:572
4261	CIITA	HP:0002965	Cutaneous anergy	-	OMIM:209920
4261	CIITA	HP:0005386	Recurrent protozoan infections	-	OMIM:209920
4261	CIITA	HP:0005386	Recurrent protozoan infections	HP:0040282	ORPHA:572
4261	CIITA	HP:0005354	Absent cellular immunity	HP:0040281	ORPHA:572
4261	CIITA	HP:0005353	Recurrent herpes	HP:0040282	ORPHA:572
4261	CIITA	HP:0005368	Abnormality of humoral immunity	HP:0040282	ORPHA:572
4261	CIITA	HP:0005403	Decreased total T cell count	HP:0040283	ORPHA:572
4261	CIITA	HP:0005401	Recurrent candida infections	HP:0040282	ORPHA:572
4261	CIITA	HP:0001824	Weight loss	-	OMIM:180300
4261	CIITA	HP:0011227	Elevated circulating C-reactive protein concentration	-	OMIM:180300
4261	CIITA	HP:0001890	Autoimmune hemolytic anemia	HP:0040283	ORPHA:572
4261	CIITA	HP:0001876	Pancytopenia	HP:0040283	ORPHA:572
4261	CIITA	HP:0001875	Decreased total neutrophil count	-	OMIM:209920
4261	CIITA	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:572
4281	MID1	HP:0002465	Poor speech	HP:0040283	ORPHA:2745
4281	MID1	HP:0010957	Congenital posterior urethral valve	1/7	OMIM:300000
4281	MID1	HP:0001274	Agenesis of corpus callosum	-	OMIM:300000
4281	MID1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:2745
4281	MID1	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:2745
4281	MID1	HP:0001256	Intellectual disability, mild	1/7	OMIM:300000
4281	MID1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2745
4281	MID1	HP:0001263	Global developmental delay	19/37	OMIM:300000
4281	MID1	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:2745
4281	MID1	HP:0008751	Laryngeal cleft	HP:0040282	ORPHA:2745
4281	MID1	HP:0008751	Laryngeal cleft	2/7	OMIM:300000
4281	MID1	HP:0100879	Enlarged ovaries	HP:0040283	ORPHA:2745
4281	MID1	HP:0000076	Vesicoureteral reflux	1/7	OMIM:300000
4281	MID1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:2745
4281	MID1	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:2745
4281	MID1	HP:0000054	Micropenis	1/7	OMIM:300000
4281	MID1	HP:0000048	Bifid scrotum	HP:0040283	ORPHA:2745
4281	MID1	HP:0000047	Hypospadias	37/44	OMIM:300000
4281	MID1	HP:0000047	Hypospadias	HP:0040282	ORPHA:2745
4281	MID1	HP:0000049	Shawl scrotum	HP:0040283	ORPHA:2745
4281	MID1	HP:0000023	Inguinal hernia	1/7	OMIM:300000
4281	MID1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2745
4281	MID1	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:2745
4281	MID1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2745
4281	MID1	HP:0000028	Cryptorchidism	-	OMIM:300000
4281	MID1	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:2745
4281	MID1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:2745
4281	MID1	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:2745
4281	MID1	HP:0001320	Cerebellar vermis hypoplasia	3/7	OMIM:300000
4281	MID1	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:2745
4281	MID1	HP:0000175	Cleft palate	1/7	OMIM:300000
4281	MID1	HP:0000175	Cleft palate	HP:0040282	ORPHA:2745
4281	MID1	HP:0410030	Cleft lip	HP:0040282	ORPHA:2745
4281	MID1	HP:0006315	Solitary median maxillary central incisor	1/7	OMIM:300000
4281	MID1	HP:0002779	Tracheomalacia	HP:0040284	ORPHA:2745
4281	MID1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:2745
4281	MID1	HP:0025407	Rectourethral fistula	1/7	OMIM:300000
4281	MID1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2745
4281	MID1	HP:0001419	X-linked recessive inheritance	-	OMIM:300000
4281	MID1	HP:0002023	Anal atresia	-	OMIM:300000
4281	MID1	HP:0002023	Anal atresia	HP:0040283	ORPHA:2745
4281	MID1	HP:0002020	Gastroesophageal reflux	-	OMIM:300000
4281	MID1	HP:0002015	Dysphagia	6/7	OMIM:300000
4281	MID1	HP:0002015	Dysphagia	HP:0040283	ORPHA:2745
4281	MID1	HP:0002007	Frontal bossing	-	OMIM:300000
4281	MID1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2745
4281	MID1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2745
4281	MID1	HP:0002100	Recurrent aspiration pneumonia	HP:0040283	ORPHA:2745
4281	MID1	HP:0003422	Vertebral segmentation defect	HP:0040284	ORPHA:2745
4281	MID1	HP:0010518	Thyroglossal cyst	HP:0040284	ORPHA:2745
4281	MID1	HP:0003577	Congenital onset	7/7	OMIM:300000
4281	MID1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040283	ORPHA:2745
4281	MID1	HP:0000695	Natal tooth	HP:0040284	ORPHA:2745
4281	MID1	HP:0000668	Hypodontia	HP:0040284	ORPHA:2745
4281	MID1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:2745
4281	MID1	HP:0004322	Short stature	HP:0040282	ORPHA:2745
4281	MID1	HP:0004397	Ectopic anus	HP:0040283	ORPHA:2745
4281	MID1	HP:0031936	Delayed ability to walk	HP:0040283	ORPHA:2745
4281	MID1	HP:0000736	Short attention span	HP:0040282	ORPHA:2745
4281	MID1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:2745
4281	MID1	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:2745
4281	MID1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:2745
4281	MID1	HP:0004467	Preauricular pit	HP:0040283	ORPHA:2745
4281	MID1	HP:0100333	Unilateral cleft lip	1/7	OMIM:300000
4281	MID1	HP:0000813	Bicornuate uterus	HP:0040284	ORPHA:2745
4281	MID1	HP:0010296	Ankyloglossia	HP:0040284	ORPHA:2745
4281	MID1	HP:0010307	Stridor	HP:0040283	ORPHA:2745
4281	MID1	HP:0000260	Wide anterior fontanel	1/7	OMIM:300000
4281	MID1	HP:0000239	Large fontanelles	HP:0040283	ORPHA:2745
4281	MID1	HP:0000252	Microcephaly	HP:0040283	ORPHA:2745
4281	MID1	HP:0000252	Microcephaly	2/7	OMIM:300000
4281	MID1	HP:0000219	Thin upper lip vermilion	-	OMIM:300000
4281	MID1	HP:0000218	High palate	HP:0040283	ORPHA:2745
4281	MID1	HP:0000218	High palate	-	OMIM:300000
4281	MID1	HP:0001537	Umbilical hernia	1/7	OMIM:300000
4281	MID1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2745
4281	MID1	HP:0001539	Omphalocele	HP:0040283	ORPHA:2745
4281	MID1	HP:0000204	Cleft upper lip	1/7	OMIM:300000
4281	MID1	HP:0002835	Aspiration	-	OMIM:300000
4281	MID1	HP:0001510	Growth delay	1/7	OMIM:300000
4281	MID1	HP:0001609	Hoarse voice	1/7	OMIM:300000
4281	MID1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2745
4281	MID1	HP:0000358	Posteriorly rotated ears	1/7	OMIM:300000
4281	MID1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:2745
4281	MID1	HP:0000369	Low-set ears	HP:0040283	ORPHA:2745
4281	MID1	HP:0000369	Low-set ears	2/7	OMIM:300000
4281	MID1	HP:0000343	Long philtrum	HP:0040281	ORPHA:2745
4281	MID1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:2745
4281	MID1	HP:0000349	Widow's peak	2/7	OMIM:300000
4281	MID1	HP:0000349	Widow's peak	HP:0040282	ORPHA:2745
4281	MID1	HP:0000347	Micrognathia	HP:0040283	ORPHA:2745
4281	MID1	HP:0000319	Smooth philtrum	1/7	OMIM:300000
4281	MID1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2745
4281	MID1	HP:0000316	Hypertelorism	42/44	OMIM:300000
4281	MID1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:2745
4281	MID1	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:2745
4281	MID1	HP:0001629	Ventricular septal defect	1/7	OMIM:300000
4281	MID1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:2745
4281	MID1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2745
4281	MID1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:2745
4281	MID1	HP:0005301	Persistent left superior vena cava	HP:0040283	ORPHA:2745
4281	MID1	HP:0001739	Abnormal nasopharynx morphology	-	OMIM:300000
4281	MID1	HP:0000486	Strabismus	HP:0040284	ORPHA:2745
4281	MID1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:2745
4281	MID1	HP:0000463	Anteverted nares	17/44	OMIM:300000
4281	MID1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2745
4281	MID1	HP:0012443	Abnormal brain morphology	HP:0040283	ORPHA:2745
4281	MID1	HP:0000431	Wide nasal bridge	3/7	OMIM:300000
4281	MID1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:2745
4281	MID1	HP:0005487	Prominent metopic ridge	HP:0040283	ORPHA:2745
4281	MID1	HP:0006783	Posterior pharyngeal cleft	-	OMIM:300000
4281	MID1	HP:0000506	Telecanthus	37/37	OMIM:300000
4281	MID1	HP:0000506	Telecanthus	HP:0040282	ORPHA:2745
4281	MID1	HP:0000508	Ptosis	HP:0040282	ORPHA:2745
4281	MID1	HP:0011220	Prominent forehead	1/7	OMIM:300000
4281	MID1	HP:0011220	Prominent forehead	HP:0040281	ORPHA:2745
4281	MID1	HP:0000539	Abnormality of refraction	HP:0040284	ORPHA:2745
4282	MIF	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
4282	MIF	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
4282	MIF	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
4282	MIF	HP:0000099	Glomerulonephritis	HP:0040283	ORPHA:85414
4282	MIF	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
4282	MIF	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
4282	MIF	HP:0001369	Arthritis	HP:0040281	ORPHA:85414
4282	MIF	HP:0001386	Joint swelling	HP:0040281	ORPHA:85414
4282	MIF	HP:0012122	Anterior uveitis	HP:0040283	ORPHA:85414
4282	MIF	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
4282	MIF	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:85414
4282	MIF	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
4282	MIF	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
4282	MIF	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
4282	MIF	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
4282	MIF	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
4282	MIF	HP:0002027	Abdominal pain	HP:0040283	ORPHA:85414
4282	MIF	HP:0002099	Asthma	HP:0040283	ORPHA:586
4282	MIF	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
4282	MIF	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
4282	MIF	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
4282	MIF	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
4282	MIF	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:85414
4282	MIF	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040281	ORPHA:85414
4282	MIF	HP:0004890	Elevated pulmonary artery pressure	HP:0040283	ORPHA:85414
4282	MIF	HP:0002202	Pleural effusion	HP:0040283	ORPHA:85414
4282	MIF	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
4282	MIF	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:85414
4282	MIF	HP:0001945	Fever	HP:0040281	ORPHA:85414
4282	MIF	HP:0005681	Juvenile rheumatoid arthritis	HP:0040281	ORPHA:85414
4282	MIF	HP:0000739	Anxiety	HP:0040283	ORPHA:586
4282	MIF	HP:0000716	Depression	HP:0040283	ORPHA:586
4282	MIF	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
4282	MIF	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
4282	MIF	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
4282	MIF	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
4282	MIF	HP:0003281	Increased circulating ferritin concentration	HP:0040283	ORPHA:85414
4282	MIF	HP:0003251	Male infertility	HP:0040282	ORPHA:586
4282	MIF	HP:0000988	Skin rash	HP:0040281	ORPHA:85414
4282	MIF	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
4282	MIF	HP:0000938	Osteopenia	HP:0040283	ORPHA:85414
4282	MIF	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
4282	MIF	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
4282	MIF	HP:0002829	Arthralgia	HP:0040281	ORPHA:85414
4282	MIF	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
4282	MIF	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
4282	MIF	HP:0001510	Growth delay	HP:0040283	ORPHA:85414
4282	MIF	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
4282	MIF	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
4282	MIF	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
4282	MIF	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
4282	MIF	HP:0002960	Autoimmunity	HP:0040281	ORPHA:85414
4282	MIF	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
4282	MIF	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
4282	MIF	HP:0001701	Pericarditis	HP:0040283	ORPHA:85414
4282	MIF	HP:0001744	Splenomegaly	HP:0040283	ORPHA:85414
4282	MIF	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040281	ORPHA:85414
4284	MIP	HP:0000006	Autosomal dominant inheritance	-	OMIM:615274
4284	MIP	HP:0003577	Congenital onset	18/18	OMIM:615274
4284	MIP	HP:0100018	Nuclear cataract	-	OMIM:615274
4284	MIP	HP:0100019	Cortical cataract	1/18	OMIM:615274
4284	MIP	HP:0007971	Lamellar cataract	17/18	OMIM:615274
4285	MIPEP	HP:0001276	Hypertonia	1/4	OMIM:617228
4285	MIPEP	HP:0001250	Seizure	3/4	OMIM:617228
4285	MIPEP	HP:0001252	Hypotonia	4/4	OMIM:617228
4285	MIPEP	HP:0001263	Global developmental delay	4/4	OMIM:617228
4285	MIPEP	HP:0000007	Autosomal recessive inheritance	-	OMIM:617228
4285	MIPEP	HP:0000154	Wide mouth	1/4	OMIM:617228
4285	MIPEP	HP:0003348	Hyperalaninemia	4/4	OMIM:617228
4285	MIPEP	HP:0011800	Midface retrusion	1/4	OMIM:617228
4285	MIPEP	HP:0002151	Increased circulating lactate concentration	4/4	OMIM:617228
4285	MIPEP	HP:0003593	Infantile onset	4/4	OMIM:617228
4285	MIPEP	HP:0003557	Increased variability in muscle fiber diameter	2/3	OMIM:617228
4285	MIPEP	HP:0011968	Feeding difficulties	2/4	OMIM:617228
4285	MIPEP	HP:0030682	Left ventricular noncompaction	4/4	OMIM:617228
4285	MIPEP	HP:0003128	Lactic acidosis	4/4	OMIM:617228
4285	MIPEP	HP:0012240	Increased intramyocellular lipid droplets	3/3	OMIM:617228
4285	MIPEP	HP:0000252	Microcephaly	2/4	OMIM:617228
4285	MIPEP	HP:0001508	Failure to thrive	4/4	OMIM:617228
4285	MIPEP	HP:0000347	Micrognathia	1/4	OMIM:617228
4285	MIPEP	HP:0001639	Hypertrophic cardiomyopathy	4/4	OMIM:617228
4285	MIPEP	HP:0005280	Depressed nasal bridge	1/4	OMIM:617228
4285	MIPEP	HP:0000490	Deeply set eye	1/4	OMIM:617228
4285	MIPEP	HP:0000463	Anteverted nares	1/4	OMIM:617228
4285	MIPEP	HP:0000414	Bulbous nose	1/4	OMIM:617228
4285	MIPEP	HP:0000518	Cataract	1/3	OMIM:617228
4286	MITF	HP:0001103	Abnormal macular morphology	HP:0040281	ORPHA:897
4286	MITF	HP:0001100	Heterochromia iridis	HP:0040282	ORPHA:895
4286	MITF	HP:0001100	Heterochromia iridis	4/14	OMIM:193510
4286	MITF	HP:0001100	Heterochromia iridis	0/11	OMIM:103500
4286	MITF	HP:0003764	Nevus	HP:0040281	ORPHA:618
4286	MITF	HP:0001252	Hypotonia	1/2	OMIM:617306
4286	MITF	HP:0007443	Partial albinism	-	OMIM:193510
4286	MITF	HP:0012056	Cutaneous melanoma	-	OMIM:614456
4286	MITF	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:895
4286	MITF	HP:0007513	Generalized hypopigmentation	11/11	OMIM:103500
4286	MITF	HP:0007513	Generalized hypopigmentation	1/2	OMIM:617306
4286	MITF	HP:0001341	Olfactory lobe agenesis	HP:0040282	ORPHA:897
4286	MITF	HP:0000007	Autosomal recessive inheritance	-	OMIM:617306
4286	MITF	HP:0000006	Autosomal dominant inheritance	-	OMIM:614456
4286	MITF	HP:0000006	Autosomal dominant inheritance	-	OMIM:193510
4286	MITF	HP:0000006	Autosomal dominant inheritance	-	OMIM:103500
4286	MITF	HP:0001480	Freckling	HP:0040282	ORPHA:618
4286	MITF	HP:0007587	Numerous pigmented freckles	5/6	OMIM:193510
4286	MITF	HP:0002019	Constipation	HP:0040281	ORPHA:897
4286	MITF	HP:0002027	Abdominal pain	HP:0040282	ORPHA:897
4286	MITF	HP:0002007	Frontal bossing	1/2	OMIM:617306
4286	MITF	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:618
4286	MITF	HP:0003577	Congenital onset	11/11	OMIM:103500
4286	MITF	HP:0003577	Congenital onset	2/2	OMIM:617306
4286	MITF	HP:0003577	Congenital onset	8/8	OMIM:193510
4286	MITF	HP:0002242	Abnormal intestine morphology	HP:0040281	ORPHA:897
4286	MITF	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:897
4286	MITF	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:895
4286	MITF	HP:0002216	Premature graying of hair	8/8	OMIM:193510
4286	MITF	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:897
4286	MITF	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:895
4286	MITF	HP:0002227	White eyelashes	-	OMIM:193510
4286	MITF	HP:0002227	White eyelashes	11/11	OMIM:103500
4286	MITF	HP:0002227	White eyelashes	HP:0040281	ORPHA:897
4286	MITF	HP:0002226	White eyebrow	-	OMIM:193510
4286	MITF	HP:0002226	White eyebrow	HP:0040281	ORPHA:42665
4286	MITF	HP:0002226	White eyebrow	11/11	OMIM:103500
4286	MITF	HP:0002226	White eyebrow	HP:0040281	ORPHA:897
4286	MITF	HP:0002211	White forelock	HP:0040282	ORPHA:895
4286	MITF	HP:0002211	White forelock	3/8	OMIM:193510
4286	MITF	HP:0002211	White forelock	HP:0040281	ORPHA:897
4286	MITF	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:618
4286	MITF	HP:0002389	Cavum septum pellucidum	1/2	OMIM:617306
4286	MITF	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:895
4286	MITF	HP:0001010	Hypopigmentation of the skin	HP:0040281	ORPHA:42665
4286	MITF	HP:0001022	Albinism	-	OMIM:193510
4286	MITF	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:42665
4286	MITF	HP:0008527	Congenital sensorineural hearing impairment	11/11	OMIM:103500
4286	MITF	HP:0008527	Congenital sensorineural hearing impairment	1/2	OMIM:617306
4286	MITF	HP:0004209	Clinodactyly of the 5th finger	1/2	OMIM:617306
4286	MITF	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:897
4286	MITF	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:895
4286	MITF	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:42665
4286	MITF	HP:0000635	Blue irides	11/11	OMIM:103500
4286	MITF	HP:0000664	Synophrys	-	OMIM:193510
4286	MITF	HP:0000664	Synophrys	HP:0040282	ORPHA:897
4286	MITF	HP:0004325	Decreased body weight	1/2	OMIM:617306
4286	MITF	HP:0004322	Short stature	1/2	OMIM:617306
4286	MITF	HP:0100013	Neoplasm of the breast	HP:0040283	ORPHA:618
4286	MITF	HP:0004414	Abnormality of the pulmonary artery	HP:0040283	ORPHA:895
4286	MITF	HP:0004482	Relative macrocephaly	1/2	OMIM:617306
4286	MITF	HP:0004467	Preauricular pit	1/2	OMIM:617306
4286	MITF	HP:0012805	Iris transillumination defect	1/2	OMIM:617306
4286	MITF	HP:0000958	Dry skin	HP:0040282	ORPHA:618
4286	MITF	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:897
4286	MITF	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:618
4286	MITF	HP:0000256	Macrocephaly	2/2	OMIM:617306
4286	MITF	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:618
4286	MITF	HP:0002861	Melanoma	HP:0040281	ORPHA:618
4286	MITF	HP:0007894	Hypopigmentation of the fundus	11/11	OMIM:103500
4286	MITF	HP:0005214	Intestinal obstruction	HP:0040281	ORPHA:897
4286	MITF	HP:0000365	Hearing impairment	HP:0040281	ORPHA:897
4286	MITF	HP:0000365	Hearing impairment	HP:0040281	ORPHA:42665
4286	MITF	HP:0000365	Hearing impairment	HP:0040281	ORPHA:895
4286	MITF	HP:0000358	Posteriorly rotated ears	1/2	OMIM:617306
4286	MITF	HP:0000366	Abnormality of the nose	HP:0040282	ORPHA:897
4286	MITF	HP:0011002	Osteopetrosis	1/2	OMIM:617306
4286	MITF	HP:0011001	Increased bone mineral density	1/2	OMIM:617306
4286	MITF	HP:0000347	Micrognathia	1/2	OMIM:617306
4286	MITF	HP:0007990	Hypoplastic iris stroma	-	OMIM:193510
4286	MITF	HP:0000407	Sensorineural hearing impairment	12/14	OMIM:193510
4286	MITF	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:895
4286	MITF	HP:0000482	Microcornea	1/2	OMIM:617306
4286	MITF	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:897
4286	MITF	HP:0000488	Retinopathy	HP:0040283	ORPHA:618
4286	MITF	HP:0000431	Wide nasal bridge	-	OMIM:193510
4286	MITF	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:897
4286	MITF	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:897
4286	MITF	HP:0000430	Underdeveloped nasal alae	-	OMIM:193510
4286	MITF	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:897
4286	MITF	HP:0006753	Neoplasm of the stomach	HP:0040283	ORPHA:618
4286	MITF	HP:0000518	Cataract	1/2	OMIM:617306
4286	MITF	HP:0000506	Telecanthus	HP:0040283	ORPHA:897
4286	MITF	HP:0000506	Telecanthus	HP:0040283	ORPHA:895
4286	MITF	HP:0000508	Ptosis	HP:0040283	ORPHA:895
4286	MITF	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:897
4286	MITF	HP:0000593	Abnormal anterior chamber morphology	HP:0040281	ORPHA:42665
4286	MITF	HP:0000586	Shallow orbits	1/2	OMIM:617306
4286	MITF	HP:0000589	Coloboma	1/2	OMIM:617306
4286	MITF	HP:0000568	Microphthalmia	2/2	OMIM:617306
4286	MITF	HP:0000534	Abnormal eyebrow morphology	HP:0040281	ORPHA:897
4287	ATXN3	HP:0001151	Impaired horizontal smooth pursuit	-	OMIM:109150
4287	ATXN3	HP:0002495	Impaired vibratory sensation	-	OMIM:109150
4287	ATXN3	HP:0002493	Upper motor neuron dysfunction	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0002493	Upper motor neuron dysfunction	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0002493	Upper motor neuron dysfunction	HP:0040281	ORPHA:276238
4287	ATXN3	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0007311	Short stepped shuffling gait	-	OMIM:168600
4287	ATXN3	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:276238
4287	ATXN3	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0007240	Progressive gait ataxia	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0007240	Progressive gait ataxia	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0007240	Progressive gait ataxia	HP:0040282	ORPHA:276238
4287	ATXN3	HP:0003745	Sporadic	-	OMIM:168600
4287	ATXN3	HP:0003743	Genetic anticipation	-	OMIM:109150
4287	ATXN3	HP:0001272	Cerebellar atrophy	-	OMIM:109150
4287	ATXN3	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:276238
4287	ATXN3	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0001251	Ataxia	57/57	OMIM:109150
4287	ATXN3	HP:0001260	Dysarthria	30/57	OMIM:109150
4287	ATXN3	HP:0001260	Dysarthria	-	OMIM:168600
4287	ATXN3	HP:0001260	Dysarthria	HP:0040282	ORPHA:276238
4287	ATXN3	HP:0001260	Dysarthria	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0001260	Dysarthria	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0001257	Spasticity	62/139	OMIM:109150
4287	ATXN3	HP:0001257	Spasticity	HP:0040282	ORPHA:276238
4287	ATXN3	HP:0001257	Spasticity	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0001257	Spasticity	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0002529	Neuronal loss in central nervous system	-	OMIM:168600
4287	ATXN3	HP:0002503	Spinocerebellar tract degeneration	-	OMIM:109150
4287	ATXN3	HP:0002503	Spinocerebellar tract degeneration	HP:0040282	ORPHA:276238
4287	ATXN3	HP:0002503	Spinocerebellar tract degeneration	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0002503	Spinocerebellar tract degeneration	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:276238
4287	ATXN3	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0001332	Dystonia	17/57	OMIM:109150
4287	ATXN3	HP:0001332	Dystonia	-	OMIM:168600
4287	ATXN3	HP:0001332	Dystonia	HP:0040281	ORPHA:276238
4287	ATXN3	HP:0001332	Dystonia	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0001332	Dystonia	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:276244
4287	ATXN3	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:276241
4287	ATXN3	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:276238
4287	ATXN3	HP:0000012	Urinary urgency	-	OMIM:168600
4287	ATXN3	HP:0001337	Tremor	-	OMIM:168600
4287	ATXN3	HP:0000006	Autosomal dominant inheritance	-	OMIM:109150
4287	ATXN3	HP:0000006	Autosomal dominant inheritance	-	OMIM:168600
4287	ATXN3	HP:0001300	Parkinsonism	3/57	OMIM:109150
4287	ATXN3	HP:0001300	Parkinsonism	-	OMIM:168600
4287	ATXN3	HP:0008944	Distal lower limb amyotrophy	HP:0040281	ORPHA:276244
4287	ATXN3	HP:0008944	Distal lower limb amyotrophy	HP:0040283	ORPHA:276241
4287	ATXN3	HP:0008944	Distal lower limb amyotrophy	HP:0040283	ORPHA:276238
4287	ATXN3	HP:0002019	Constipation	-	OMIM:168600
4287	ATXN3	HP:0002015	Dysphagia	-	OMIM:109150
4287	ATXN3	HP:0002015	Dysphagia	-	OMIM:168600
4287	ATXN3	HP:0002015	Dysphagia	HP:0040283	ORPHA:276238
4287	ATXN3	HP:0002015	Dysphagia	HP:0040283	ORPHA:276244
4287	ATXN3	HP:0002015	Dysphagia	HP:0040283	ORPHA:276241
4287	ATXN3	HP:0002067	Bradykinesia	-	OMIM:109150
4287	ATXN3	HP:0002067	Bradykinesia	-	OMIM:168600
4287	ATXN3	HP:0003394	Muscle spasm	-	OMIM:109150
4287	ATXN3	HP:0003394	Muscle spasm	HP:0040283	ORPHA:276238
4287	ATXN3	HP:0003394	Muscle spasm	HP:0040283	ORPHA:276244
4287	ATXN3	HP:0003394	Muscle spasm	HP:0040283	ORPHA:276241
4287	ATXN3	HP:0002063	Rigidity	-	OMIM:109150
4287	ATXN3	HP:0002063	Rigidity	-	OMIM:168600
4287	ATXN3	HP:0002078	Truncal ataxia	-	OMIM:109150
4287	ATXN3	HP:0002073	Progressive cerebellar ataxia	-	OMIM:109150
4287	ATXN3	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:276244
4287	ATXN3	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:276241
4287	ATXN3	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:276238
4287	ATXN3	HP:0002070	Limb ataxia	-	OMIM:109150
4287	ATXN3	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:109150
4287	ATXN3	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:276238
4287	ATXN3	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:276244
4287	ATXN3	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:276241
4287	ATXN3	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:276244
4287	ATXN3	HP:0003487	Babinski sign	-	OMIM:109150
4287	ATXN3	HP:0003487	Babinski sign	HP:0040282	ORPHA:276238
4287	ATXN3	HP:0003487	Babinski sign	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0003487	Babinski sign	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0003457	EMG abnormality	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0003438	Absent Achilles reflex	-	OMIM:109150
4287	ATXN3	HP:0002198	Dilated fourth ventricle	-	OMIM:109150
4287	ATXN3	HP:0002198	Dilated fourth ventricle	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0002198	Dilated fourth ventricle	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0002198	Dilated fourth ventricle	HP:0040282	ORPHA:276238
4287	ATXN3	HP:0002171	Gliosis	-	OMIM:109150
4287	ATXN3	HP:0002172	Postural instability	-	OMIM:109150
4287	ATXN3	HP:0002172	Postural instability	-	OMIM:168600
4287	ATXN3	HP:0003587	Insidious onset	-	OMIM:168600
4287	ATXN3	HP:0003584	Late onset	-	OMIM:168600
4287	ATXN3	HP:0003581	Adult onset	-	OMIM:168600
4287	ATXN3	HP:0011960	Substantia nigra gliosis	HP:0040282	ORPHA:276238
4287	ATXN3	HP:0011960	Substantia nigra gliosis	-	OMIM:168600
4287	ATXN3	HP:0011960	Substantia nigra gliosis	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0011960	Substantia nigra gliosis	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0007089	Facial-lingual fasciculations	HP:0040282	ORPHA:276238
4287	ATXN3	HP:0007089	Facial-lingual fasciculations	-	OMIM:109150
4287	ATXN3	HP:0007089	Facial-lingual fasciculations	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0007089	Facial-lingual fasciculations	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0002380	Fasciculations	12/57	OMIM:109150
4287	ATXN3	HP:0002398	Degeneration of anterior horn cells	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0002366	Abnormal lower motor neuron morphology	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0003693	Distal amyotrophy	-	OMIM:109150
4287	ATXN3	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:276238
4287	ATXN3	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:276244
4287	ATXN3	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:276241
4287	ATXN3	HP:0002360	Sleep abnormality	-	OMIM:168600
4287	ATXN3	HP:0003676	Progressive	-	OMIM:109150
4287	ATXN3	HP:0003676	Progressive	-	OMIM:168600
4287	ATXN3	HP:0002354	Memory impairment	HP:0040283	ORPHA:276238
4287	ATXN3	HP:0002354	Memory impairment	HP:0040283	ORPHA:276244
4287	ATXN3	HP:0002354	Memory impairment	HP:0040283	ORPHA:276241
4287	ATXN3	HP:0002322	Resting tremor	-	OMIM:168600
4287	ATXN3	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:276238
4287	ATXN3	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0002312	Clumsiness	HP:0040282	ORPHA:276238
4287	ATXN3	HP:0002312	Clumsiness	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0002312	Clumsiness	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0000640	Gaze-evoked nystagmus	15/20	OMIM:109150
4287	ATXN3	HP:0000640	Gaze-evoked nystagmus	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0000640	Gaze-evoked nystagmus	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0000640	Gaze-evoked nystagmus	HP:0040282	ORPHA:276238
4287	ATXN3	HP:0000651	Diplopia	-	OMIM:109150
4287	ATXN3	HP:0000651	Diplopia	HP:0040282	ORPHA:276238
4287	ATXN3	HP:0000651	Diplopia	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0000651	Diplopia	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0000641	Dysmetric saccades	-	OMIM:109150
4287	ATXN3	HP:0000623	Supranuclear ophthalmoplegia	HP:0040282	ORPHA:276238
4287	ATXN3	HP:0000623	Supranuclear ophthalmoplegia	-	OMIM:109150
4287	ATXN3	HP:0000623	Supranuclear ophthalmoplegia	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0000623	Supranuclear ophthalmoplegia	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0030454	Abnormal electrooculogram	-	OMIM:109150
4287	ATXN3	HP:0031908	Micrographia	-	OMIM:168600
4287	ATXN3	HP:0004370	Abnormality of temperature regulation	HP:0040283	ORPHA:276238
4287	ATXN3	HP:0004370	Abnormality of temperature regulation	HP:0040283	ORPHA:276244
4287	ATXN3	HP:0004370	Abnormality of temperature regulation	HP:0040283	ORPHA:276241
4287	ATXN3	HP:0000751	Personality changes	-	OMIM:168600
4287	ATXN3	HP:0000738	Hallucinations	HP:0040283	OMIM:168600
4287	ATXN3	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:276238
4287	ATXN3	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0000716	Depression	-	OMIM:168600
4287	ATXN3	HP:0000726	Dementia	-	OMIM:109150
4287	ATXN3	HP:0000726	Dementia	-	OMIM:168600
4287	ATXN3	HP:0100315	Lewy bodies	-	OMIM:168600
4287	ATXN3	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:276238
4287	ATXN3	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0040140	Degeneration of the striatum	HP:0040282	ORPHA:276238
4287	ATXN3	HP:0040140	Degeneration of the striatum	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0040140	Degeneration of the striatum	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0000298	Mask-like facies	-	OMIM:168600
4287	ATXN3	HP:0002839	Urinary bladder sphincter dysfunction	-	OMIM:109150
4287	ATXN3	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:276244
4287	ATXN3	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:276241
4287	ATXN3	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:276238
4287	ATXN3	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	OMIM:109150
4287	ATXN3	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	OMIM:168600
4287	ATXN3	HP:0001621	Weak voice	-	OMIM:168600
4287	ATXN3	HP:0001751	Abnormal vestibular function	HP:0040283	ORPHA:276244
4287	ATXN3	HP:0001751	Abnormal vestibular function	HP:0040283	ORPHA:276241
4287	ATXN3	HP:0001751	Abnormal vestibular function	HP:0040283	ORPHA:276238
4287	ATXN3	HP:0025710	Late young adult onset	-	OMIM:109150
4287	ATXN3	HP:0000520	Proptosis	-	OMIM:109150
4287	ATXN3	HP:0000520	Proptosis	HP:0040282	ORPHA:276238
4287	ATXN3	HP:0000520	Proptosis	HP:0040282	ORPHA:276244
4287	ATXN3	HP:0000520	Proptosis	HP:0040282	ORPHA:276241
4287	ATXN3	HP:0000508	Ptosis	-	OMIM:109150
4287	ATXN3	HP:0000590	Progressive external ophthalmoplegia	HP:0040281	ORPHA:276244
4287	ATXN3	HP:0000590	Progressive external ophthalmoplegia	HP:0040281	ORPHA:276241
4287	ATXN3	HP:0000590	Progressive external ophthalmoplegia	HP:0040281	ORPHA:276238
4287	ATXN3	HP:0012532	Chronic pain	-	OMIM:109150
4287	ATXN3	HP:0000544	External ophthalmoplegia	34/57	OMIM:109150
4292	MLH1	HP:0001123	Visual field defect	HP:0040283	ORPHA:144
4292	MLH1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:144
4292	MLH1	HP:0001276	Hypertonia	HP:0040282	ORPHA:144
4292	MLH1	HP:0001274	Agenesis of corpus callosum	2/3	OMIM:276300
4292	MLH1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:144
4292	MLH1	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:144
4292	MLH1	HP:0001250	Seizure	HP:0040282	ORPHA:144
4292	MLH1	HP:0001252	Hypotonia	HP:0040282	ORPHA:144
4292	MLH1	HP:0001260	Dysarthria	HP:0040283	ORPHA:144
4292	MLH1	HP:0002576	Intussusception	HP:0040283	OMIM:174900
4292	MLH1	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
4292	MLH1	HP:0001217	Clubbing	HP:0040283	OMIM:174900
4292	MLH1	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:144
4292	MLH1	HP:0033682	Pleomorphic xanthoastrocytoma	1/18	OMIM:276300
4292	MLH1	HP:0033681	Oligodendroglioma	2/18	OMIM:276300
4292	MLH1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:144
4292	MLH1	HP:0007565	Multiple cafe-au-lait spots	20/21	OMIM:276300
4292	MLH1	HP:0002671	Basal cell carcinoma	-	OMIM:158320
4292	MLH1	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:144
4292	MLH1	HP:0002671	Basal cell carcinoma	-	OMIM:276300
4292	MLH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
4292	MLH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:276300
4292	MLH1	HP:0002665	Lymphoma	5/18	OMIM:276300
4292	MLH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
4292	MLH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:609310
4292	MLH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:158320
4292	MLH1	HP:0012190	T-cell lymphoma	2/3	OMIM:276300
4292	MLH1	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:144
4292	MLH1	HP:0012174	Glioblastoma multiforme	10/21	OMIM:276300
4292	MLH1	HP:0012118	Laryngeal carcinoma	-	OMIM:158320
4292	MLH1	HP:0012118	Laryngeal carcinoma	HP:0040283	ORPHA:144
4292	MLH1	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:144
4292	MLH1	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:144
4292	MLH1	HP:0002024	Malabsorption	HP:0040281	ORPHA:144
4292	MLH1	HP:0002019	Constipation	HP:0040281	ORPHA:144
4292	MLH1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:144
4292	MLH1	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
4292	MLH1	HP:0002027	Abdominal pain	HP:0040281	ORPHA:144
4292	MLH1	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
4292	MLH1	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
4292	MLH1	HP:0002076	Migraine	HP:0040282	ORPHA:144
4292	MLH1	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:144
4292	MLH1	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:144
4292	MLH1	HP:0040274	Adenocarcinoma of the small intestine	2/18	OMIM:276300
4292	MLH1	HP:0040276	Adenocarcinoma of the colon	1/18	OMIM:276300
4292	MLH1	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:144
4292	MLH1	HP:0010526	Dysgraphia	HP:0040283	ORPHA:144
4292	MLH1	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:144
4292	MLH1	HP:0003401	Paresthesia	HP:0040283	ORPHA:144
4292	MLH1	HP:0009592	Astrocytoma	11/13	OMIM:276300
4292	MLH1	HP:0003596	Middle age onset	3/3	OMIM:158320
4292	MLH1	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:144
4292	MLH1	HP:0002253	Colonic diverticula	-	OMIM:158320
4292	MLH1	HP:0009732	Plexiform neurofibroma	1/18	OMIM:276300
4292	MLH1	HP:0009720	Adenoma sebaceum	-	OMIM:158320
4292	MLH1	HP:0009720	Adenoma sebaceum	HP:0040281	ORPHA:144
4292	MLH1	HP:0009726	Renal neoplasm	HP:0040283	ORPHA:144
4292	MLH1	HP:0002282	Gray matter heterotopia	2/3	OMIM:276300
4292	MLH1	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:144
4292	MLH1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:144
4292	MLH1	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:144
4292	MLH1	HP:0002376	Developmental regression	HP:0040283	ORPHA:144
4292	MLH1	HP:0001010	Hypopigmentation of the skin	3/18	OMIM:276300
4292	MLH1	HP:0002354	Memory impairment	HP:0040283	ORPHA:144
4292	MLH1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:144
4292	MLH1	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:144
4292	MLH1	HP:0100684	Salivary gland neoplasm	HP:0040283	ORPHA:144
4292	MLH1	HP:0100615	Ovarian neoplasm	1/1	OMIM:158320
4292	MLH1	HP:0100615	Ovarian neoplasm	HP:0040283	ORPHA:144
4292	MLH1	HP:0100613	Death in early adulthood	HP:0040282	ORPHA:144
4292	MLH1	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:144
4292	MLH1	HP:0001909	Leukemia	1/18	OMIM:276300
4292	MLH1	HP:0001903	Anemia	HP:0040282	OMIM:174900
4292	MLH1	HP:0003002	Breast carcinoma	-	OMIM:158320
4292	MLH1	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:144
4292	MLH1	HP:0003003	Colon cancer	2/3	OMIM:158320
4292	MLH1	HP:0003003	Colon cancer	20%	OMIM:174900
4292	MLH1	HP:0003003	Colon cancer	5/12	OMIM:608456
4292	MLH1	HP:0003003	Colon cancer	HP:0040282	ORPHA:144
4292	MLH1	HP:0003003	Colon cancer	-	OMIM:609310
4292	MLH1	HP:0003073	Hypoalbuminemia	-	OMIM:174900
4292	MLH1	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
4292	MLH1	HP:0004377	Hematological neoplasm	HP:0040283	ORPHA:144
4292	MLH1	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:144
4292	MLH1	HP:0003006	Neuroblastoma	-	OMIM:276300
4292	MLH1	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:144
4292	MLH1	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:144
4292	MLH1	HP:0000738	Hallucinations	HP:0040283	ORPHA:144
4292	MLH1	HP:0000737	Irritability	HP:0040282	ORPHA:144
4292	MLH1	HP:0000739	Anxiety	HP:0040282	ORPHA:144
4292	MLH1	HP:0000716	Depression	HP:0040282	ORPHA:144
4292	MLH1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:144
4292	MLH1	HP:0000997	Axillary freckling	3/18	OMIM:276300
4292	MLH1	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:144
4292	MLH1	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:144
4292	MLH1	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:144
4292	MLH1	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:144
4292	MLH1	HP:0002888	Ependymoma	-	OMIM:276300
4292	MLH1	HP:0002885	Medulloblastoma	-	OMIM:276300
4292	MLH1	HP:0002859	Rhabdomyosarcoma	-	OMIM:276300
4292	MLH1	HP:0001522	Death in infancy	HP:0040282	ORPHA:144
4292	MLH1	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
4292	MLH1	HP:0012378	Fatigue	HP:0040281	ORPHA:144
4292	MLH1	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
4292	MLH1	HP:0005227	Adenomatous colonic polyposis	9/18	OMIM:276300
4292	MLH1	HP:0002900	Hypokalemia	-	OMIM:174900
4292	MLH1	HP:0006753	Neoplasm of the stomach	HP:0040282	ORPHA:144
4292	MLH1	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
4292	MLH1	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:144
4292	MLH1	HP:0006719	Benign gastrointestinal tract tumors	-	OMIM:158320
4292	MLH1	HP:0030410	Sebaceous gland carcinoma	3/3	OMIM:158320
4292	MLH1	HP:0006771	Duodenal adenocarcinoma	-	OMIM:158320
4292	MLH1	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
4292	MLH1	HP:0006778	Benign genitourinary tract neoplasm	-	OMIM:158320
4292	MLH1	HP:0006758	Malignant genitourinary tract tumor	-	OMIM:158320
4292	MLH1	HP:0006758	Malignant genitourinary tract tumor	HP:0040283	ORPHA:144
4292	MLH1	HP:0001824	Weight loss	HP:0040281	ORPHA:144
4292	MLH1	HP:0000505	Visual impairment	HP:0040283	ORPHA:144
4292	MLH1	HP:0012539	Non-Hodgkin lymphoma	1/3	OMIM:276300
4297	KMT2A	HP:0001182	Tapered finger	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0001182	Tapered finger	6/11	OMIM:605130
4297	KMT2A	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4297	KMT2A	HP:0001293	Cranial nerve compression	-	OMIM:131300
4297	KMT2A	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0001250	Seizure	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0001250	Seizure	10/15	OMIM:605130
4297	KMT2A	HP:0001252	Hypotonia	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0001252	Hypotonia	2/5	OMIM:605130
4297	KMT2A	HP:0001252	Hypotonia	2/7	OMIM:615777
4297	KMT2A	HP:0001249	Intellectual disability	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0001249	Intellectual disability	6/6	OMIM:605130
4297	KMT2A	HP:0001249	Intellectual disability	5/7	OMIM:615777
4297	KMT2A	HP:0001263	Global developmental delay	11/11	OMIM:605130
4297	KMT2A	HP:0001263	Global developmental delay	-	OMIM:615777
4297	KMT2A	HP:0100874	Thick hair	4/5	OMIM:605130
4297	KMT2A	HP:0002553	Highly arched eyebrow	4/6	OMIM:605130
4297	KMT2A	HP:0002515	Waddling gait	54/102	OMIM:131300
4297	KMT2A	HP:0001382	Joint hypermobility	1/5	OMIM:605130
4297	KMT2A	HP:0001382	Joint hypermobility	-	OMIM:615777
4297	KMT2A	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4297	KMT2A	HP:0000028	Cryptorchidism	1/4	OMIM:605130
4297	KMT2A	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0008897	Postnatal growth retardation	6/6	OMIM:605130
4297	KMT2A	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4297	KMT2A	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4297	KMT2A	HP:0001324	Muscle weakness	40/96	OMIM:131300
4297	KMT2A	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4297	KMT2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4297	KMT2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
4297	KMT2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4297	KMT2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:605130
4297	KMT2A	HP:0002650	Scoliosis	12/14	OMIM:131300
4297	KMT2A	HP:0002650	Scoliosis	1/11	OMIM:605130
4297	KMT2A	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4297	KMT2A	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4297	KMT2A	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4297	KMT2A	HP:0008905	Rhizomelia	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4297	KMT2A	HP:0000175	Cleft palate	2/7	OMIM:615777
4297	KMT2A	HP:0007655	Eversion of lateral third of lower eyelids	2/5	OMIM:605130
4297	KMT2A	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0002750	Delayed skeletal maturation	HP:0040283	OMIM:605130
4297	KMT2A	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0002019	Constipation	6/11	OMIM:605130
4297	KMT2A	HP:0004691	2-3 toe syndactyly	4/11	OMIM:605130
4297	KMT2A	HP:0002000	Short columella	2/4	OMIM:605130
4297	KMT2A	HP:0002015	Dysphagia	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0003388	Easy fatigability	36/76	OMIM:131300
4297	KMT2A	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4297	KMT2A	HP:0100581	Dilatation of renal calices	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0010485	Hyperextensibility at elbow	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0004780	Elbow hypertrichosis	10/12	OMIM:605130
4297	KMT2A	HP:0002136	Broad-based gait	-	OMIM:605130
4297	KMT2A	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0002162	Low posterior hairline	4/6	OMIM:605130
4297	KMT2A	HP:0002263	Exaggerated cupid's bow	6/11	OMIM:605130
4297	KMT2A	HP:0002230	Generalized hirsutism	5/5	OMIM:605130
4297	KMT2A	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	2/5	OMIM:605130
4297	KMT2A	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0011968	Feeding difficulties	5/11	OMIM:605130
4297	KMT2A	HP:0003510	Severe short stature	7/7	OMIM:615777
4297	KMT2A	HP:0002360	Sleep abnormality	4/11	OMIM:605130
4297	KMT2A	HP:0002361	Psychomotor deterioration	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0002315	Headache	-	OMIM:131300
4297	KMT2A	HP:0004976	Knee dislocation	6/7	OMIM:615777
4297	KMT2A	HP:0009811	Abnormality of the elbow	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0009803	Short phalanx of finger	-	OMIM:605130
4297	KMT2A	HP:0009803	Short phalanx of finger	-	OMIM:615777
4297	KMT2A	HP:0200055	Small hand	1/4	OMIM:605130
4297	KMT2A	HP:0009763	Limb pain	63/92	OMIM:131300
4297	KMT2A	HP:0003621	Juvenile onset	-	OMIM:131300
4297	KMT2A	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4297	KMT2A	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
4297	KMT2A	HP:0004209	Clinodactyly of the 5th finger	4/5	OMIM:605130
4297	KMT2A	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4297	KMT2A	HP:0000637	Long palpebral fissure	2/5	OMIM:605130
4297	KMT2A	HP:6001056	Out-toeing	-	OMIM:131300
4297	KMT2A	HP:0000651	Diplopia	-	OMIM:131300
4297	KMT2A	HP:0001956	Truncal obesity	2/7	OMIM:615777
4297	KMT2A	HP:0001903	Anemia	HP:0040283	OMIM:131300
4297	KMT2A	HP:0010049	Short metacarpal	-	OMIM:615777
4297	KMT2A	HP:0000678	Dental crowding	-	OMIM:615777
4297	KMT2A	HP:0000670	Carious teeth	-	OMIM:131300
4297	KMT2A	HP:0011304	Broad thumb	2/7	OMIM:615777
4297	KMT2A	HP:0000668	Hypodontia	1/3	OMIM:605130
4297	KMT2A	HP:0000668	Hypodontia	-	OMIM:615777
4297	KMT2A	HP:0000664	Synophrys	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0000664	Synophrys	1/1	OMIM:605130
4297	KMT2A	HP:0000664	Synophrys	-	OMIM:615777
4297	KMT2A	HP:0004322	Short stature	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0004322	Short stature	5/5	OMIM:605130
4297	KMT2A	HP:0005616	Accelerated skeletal maturation	0/5	OMIM:605130
4297	KMT2A	HP:0005616	Accelerated skeletal maturation	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0004396	Poor appetite	-	OMIM:131300
4297	KMT2A	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4297	KMT2A	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4297	KMT2A	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4297	KMT2A	HP:0003026	Short long bone	7/7	OMIM:615777
4297	KMT2A	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4297	KMT2A	HP:0012745	Short palpebral fissure	1/10	OMIM:605130
4297	KMT2A	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0000752	Hyperactivity	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0000752	Hyperactivity	2/11	OMIM:605130
4297	KMT2A	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4297	KMT2A	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4297	KMT2A	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4297	KMT2A	HP:0000739	Anxiety	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0000736	Short attention span	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:319182
4297	KMT2A	HP:0000750	Delayed speech and language development	1/1	OMIM:605130
4297	KMT2A	HP:0000750	Delayed speech and language development	-	OMIM:615777
4297	KMT2A	HP:0000744	Low frustration tolerance	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0000718	Aggressive behavior	3/11	OMIM:605130
4297	KMT2A	HP:0000717	Autism	2/11	OMIM:605130
4297	KMT2A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0011463	Childhood onset	1/1	OMIM:605130
4297	KMT2A	HP:0011461	Fetal onset	7/7	OMIM:615777
4297	KMT2A	HP:0000774	Narrow chest	2/7	OMIM:615777
4297	KMT2A	HP:0003196	Short nose	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0000926	Platyspondyly	1/7	OMIM:615777
4297	KMT2A	HP:0003180	Flat acetabular roof	-	OMIM:615777
4297	KMT2A	HP:0004482	Relative macrocephaly	-	OMIM:615777
4297	KMT2A	HP:0004467	Preauricular pit	-	OMIM:187500
4297	KMT2A	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4297	KMT2A	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0000823	Delayed puberty	-	OMIM:131300
4297	KMT2A	HP:0000894	Short clavicles	-	OMIM:615777
4297	KMT2A	HP:0009237	Short 5th finger	2/5	OMIM:605130
4297	KMT2A	HP:0004540	Congenital, generalized hypertrichosis	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0004554	Generalized hypertrichosis	1/1	OMIM:605130
4297	KMT2A	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4297	KMT2A	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4297	KMT2A	HP:0000960	Sacral dimple	6/10	OMIM:605130
4297	KMT2A	HP:0000960	Sacral dimple	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0045025	Narrow palpebral fissure	8/11	OMIM:605130
4297	KMT2A	HP:0005819	Short middle phalanx of finger	-	OMIM:605130
4297	KMT2A	HP:0000286	Epicanthus	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0000286	Epicanthus	2/5	OMIM:605130
4297	KMT2A	HP:0000286	Epicanthus	1/7	OMIM:615777
4297	KMT2A	HP:0000280	Coarse facial features	2/7	OMIM:615777
4297	KMT2A	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0002827	Hip dislocation	3/7	OMIM:615777
4297	KMT2A	HP:0030084	Clinodactyly	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0000252	Microcephaly	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0000252	Microcephaly	1/5	OMIM:605130
4297	KMT2A	HP:0000252	Microcephaly	-	OMIM:615777
4297	KMT2A	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0000219	Thin upper lip vermilion	7/11	OMIM:605130
4297	KMT2A	HP:0000218	High palate	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0000218	High palate	2/5	OMIM:605130
4297	KMT2A	HP:0002857	Genu valgum	-	OMIM:131300
4297	KMT2A	HP:0001533	Slender build	-	OMIM:131300
4297	KMT2A	HP:0001508	Failure to thrive	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0001508	Failure to thrive	-	OMIM:605130
4297	KMT2A	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0001511	Intrauterine growth retardation	3/5	OMIM:605130
4297	KMT2A	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4297	KMT2A	HP:0007807	Optic nerve compression	-	OMIM:131300
4297	KMT2A	HP:0012368	Flat face	-	OMIM:605130
4297	KMT2A	HP:0012368	Flat face	7/7	OMIM:615777
4297	KMT2A	HP:0012368	Flat face	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4297	KMT2A	HP:0000365	Hearing impairment	10/67	OMIM:131300
4297	KMT2A	HP:0000369	Low-set ears	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0000369	Low-set ears	-	OMIM:605130
4297	KMT2A	HP:0000343	Long philtrum	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0000343	Long philtrum	-	OMIM:605130
4297	KMT2A	HP:0000343	Long philtrum	1/7	OMIM:615777
4297	KMT2A	HP:0011001	Increased bone mineral density	-	OMIM:131300
4297	KMT2A	HP:0000337	Broad forehead	-	OMIM:187500
4297	KMT2A	HP:0000348	High forehead	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0000347	Micrognathia	3/5	OMIM:605130
4297	KMT2A	HP:0000316	Hypertelorism	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0000316	Hypertelorism	2/4	OMIM:605130
4297	KMT2A	HP:0001643	Patent ductus arteriosus	1/6	OMIM:605130
4297	KMT2A	HP:0000311	Round face	2/7	OMIM:615777
4297	KMT2A	HP:0000311	Round face	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0002970	Genu varum	-	OMIM:615777
4297	KMT2A	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
4297	KMT2A	HP:0001631	Atrial septal defect	1/6	OMIM:605130
4297	KMT2A	HP:0000303	Mandibular prognathia	-	OMIM:131300
4297	KMT2A	HP:0007933	Broad lateral eyebrow	4/11	OMIM:605130
4297	KMT2A	HP:0031623	Brow ptosis	2/5	OMIM:605130
4297	KMT2A	HP:0000403	Recurrent otitis media	1/5	OMIM:605130
4297	KMT2A	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4297	KMT2A	HP:0000486	Strabismus	2/5	OMIM:605130
4297	KMT2A	HP:0000494	Downslanted palpebral fissures	10/12	OMIM:605130
4297	KMT2A	HP:0000455	Broad nasal tip	9/12	OMIM:605130
4297	KMT2A	HP:0000470	Short neck	1/7	OMIM:615777
4297	KMT2A	HP:0000465	Webbed neck	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0000437	Depressed nasal tip	4/5	OMIM:605130
4297	KMT2A	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4297	KMT2A	HP:0001763	Pes planus	1/1	OMIM:605130
4297	KMT2A	HP:0001763	Pes planus	1/7	OMIM:615777
4297	KMT2A	HP:0000445	Wide nose	-	OMIM:605130
4297	KMT2A	HP:0000414	Bulbous nose	1/1	OMIM:605130
4297	KMT2A	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0000431	Wide nasal bridge	9/11	OMIM:605130
4297	KMT2A	HP:0006712	Aplasia/Hypoplasia of the ribs	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0011298	Prominent digit pad	3/3	OMIM:605130
4297	KMT2A	HP:0001847	Long hallux	3/11	OMIM:605130
4297	KMT2A	HP:0001840	Metatarsus adductus	-	OMIM:615777
4297	KMT2A	HP:0000527	Long eyelashes	11/12	OMIM:605130
4297	KMT2A	HP:0000527	Long eyelashes	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0000520	Proptosis	2/4	OMIM:131300
4297	KMT2A	HP:0000520	Proptosis	-	OMIM:187500
4297	KMT2A	HP:0000520	Proptosis	7/7	OMIM:615777
4297	KMT2A	HP:0000506	Telecanthus	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0000508	Ptosis	HP:0040283	ORPHA:319182
4297	KMT2A	HP:0001831	Short toe	-	OMIM:605130
4297	KMT2A	HP:0000581	Blepharophimosis	-	OMIM:605130
4297	KMT2A	HP:0000592	Blue sclerae	3/5	OMIM:605130
4297	KMT2A	HP:0000592	Blue sclerae	2/7	OMIM:615777
4297	KMT2A	HP:0011220	Prominent forehead	3/5	OMIM:605130
4297	KMT2A	HP:0000574	Thick eyebrow	HP:0040282	ORPHA:319182
4297	KMT2A	HP:0000574	Thick eyebrow	11/12	OMIM:605130
4297	KMT2A	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4297	KMT2A	HP:0012514	Lower limb pain	4/4	OMIM:131300
4306	NR3C2	HP:0000006	Autosomal dominant inheritance	-	OMIM:177735
4306	NR3C2	HP:0000006	Autosomal dominant inheritance	-	OMIM:605115
4306	NR3C2	HP:0002615	Hypotension	-	OMIM:177735
4306	NR3C2	HP:0003351	Decreased circulating renin concentration	-	OMIM:605115
4306	NR3C2	HP:0002014	Diarrhea	-	OMIM:177735
4306	NR3C2	HP:0002013	Vomiting	-	OMIM:177735
4306	NR3C2	HP:0002153	Hyperkalemia	5/5	OMIM:177735
4306	NR3C2	HP:0008242	Pseudohypoaldosteronism	-	OMIM:177735
4306	NR3C2	HP:0011968	Feeding difficulties	-	OMIM:177735
4306	NR3C2	HP:0003623	Neonatal onset	-	OMIM:177735
4306	NR3C2	HP:0001944	Dehydration	-	OMIM:177735
4306	NR3C2	HP:0001942	Metabolic acidosis	-	OMIM:177735
4306	NR3C2	HP:0004319	Decreased circulating aldosterone concentration	-	OMIM:605115
4306	NR3C2	HP:0000859	Increased circulating aldosterone concentration	-	OMIM:177735
4306	NR3C2	HP:0000848	Increased circulating renin concentration	-	OMIM:177735
4306	NR3C2	HP:0000841	Hyperactive renin-angiotensin system	-	OMIM:177735
4306	NR3C2	HP:0000822	Hypertension	-	OMIM:605115
4306	NR3C2	HP:0008071	Maternal hypertension	-	OMIM:605115
4306	NR3C2	HP:0001508	Failure to thrive	-	OMIM:177735
4306	NR3C2	HP:0002902	Hyponatremia	3/5	OMIM:177735
4308	TRPM1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
4308	TRPM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
4308	TRPM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613216
4308	TRPM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
4308	TRPM1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
4308	TRPM1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
4308	TRPM1	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:215
4308	TRPM1	HP:0007663	Reduced visual acuity	6/6	OMIM:613216
4308	TRPM1	HP:0007642	Congenital stationary night blindness	6/6	OMIM:613216
4308	TRPM1	HP:0001000	Abnormality of skin pigmentation	0/6	OMIM:613216
4308	TRPM1	HP:0003621	Juvenile onset	8/19	OMIM:180100
4308	TRPM1	HP:0000639	Nystagmus	4/6	OMIM:613216
4308	TRPM1	HP:0000639	Nystagmus	HP:0040282	ORPHA:215
4308	TRPM1	HP:0030469	Abnormal dark-adapted electroretinogram	HP:0040281	ORPHA:215
4308	TRPM1	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	HP:0040283	ORPHA:215
4308	TRPM1	HP:0000662	Nyctalopia	26/28	OMIM:180100
4308	TRPM1	HP:0000662	Nyctalopia	HP:0040281	ORPHA:215
4308	TRPM1	HP:0030639	Congenital stationary night blindness with abnormal fundus	HP:0040282	ORPHA:215
4308	TRPM1	HP:0030638	Congenital stationary night blindness with normal fundus	HP:0040282	ORPHA:215
4308	TRPM1	HP:0011463	Childhood onset	3/19	OMIM:180100
4308	TRPM1	HP:0011462	Young adult onset	8/19	OMIM:180100
4308	TRPM1	HP:0000958	Dry skin	3/6	OMIM:613216
4308	TRPM1	HP:0007703	Abnormality of retinal pigmentation	HP:0040284	ORPHA:215
4308	TRPM1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
4308	TRPM1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
4308	TRPM1	HP:0030329	Retinal thinning	HP:0040284	ORPHA:215
4308	TRPM1	HP:0007984	Electronegative electroretinogram	HP:0040283	ORPHA:215
4308	TRPM1	HP:0000486	Strabismus	2/5	OMIM:613216
4308	TRPM1	HP:0000486	Strabismus	HP:0040282	ORPHA:215
4308	TRPM1	HP:0031705	Compensatory head posture	HP:0040283	ORPHA:215
4308	TRPM1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
4308	TRPM1	HP:0000512	Abnormal electroretinogram	1/1	OMIM:613216
4308	TRPM1	HP:0000575	Scotoma	5/18	OMIM:180100
4308	TRPM1	HP:0000540	Hypermetropia	HP:0040283	ORPHA:215
4308	TRPM1	HP:0000551	Color vision defect	HP:0040284	ORPHA:215
4308	TRPM1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
4308	TRPM1	HP:0000545	Myopia	-	OMIM:180100
4308	TRPM1	HP:0000545	Myopia	HP:0040281	ORPHA:215
4308	TRPM1	HP:0000545	Myopia	5/6	OMIM:613216
4311	MME	HP:0001284	Areflexia	HP:0040282	ORPHA:497764
4311	MME	HP:0001284	Areflexia	-	OMIM:617017
4311	MME	HP:0001251	Ataxia	6/7	OMIM:617018
4311	MME	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:497764
4311	MME	HP:0001265	Hyporeflexia	2/7	OMIM:617018
4311	MME	HP:0001265	Hyporeflexia	10/10	OMIM:617017
4311	MME	HP:0001260	Dysarthria	HP:0040282	ORPHA:497764
4311	MME	HP:0001260	Dysarthria	2/7	OMIM:617018
4311	MME	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:69063
4311	MME	HP:0000099	Glomerulonephritis	HP:0040281	ORPHA:69063
4311	MME	HP:0000007	Autosomal recessive inheritance	-	OMIM:617017
4311	MME	HP:0001337	Tremor	-	OMIM:617018
4311	MME	HP:0000006	Autosomal dominant inheritance	-	OMIM:617018
4311	MME	HP:0000006	Autosomal dominant inheritance	-	OMIM:617017
4311	MME	HP:0008959	Distal upper limb muscle weakness	HP:0040281	ORPHA:497764
4311	MME	HP:0008944	Distal lower limb amyotrophy	10/10	OMIM:617017
4311	MME	HP:0000100	Nephrotic syndrome	HP:0040281	ORPHA:69063
4311	MME	HP:0030902	Palmomental reflex	1/7	OMIM:617018
4311	MME	HP:0002066	Gait ataxia	HP:0040282	ORPHA:497764
4311	MME	HP:0002066	Gait ataxia	1/7	OMIM:617018
4311	MME	HP:0002063	Rigidity	1/7	OMIM:617018
4311	MME	HP:0030949	Glomerular deposits	HP:0040281	ORPHA:69063
4311	MME	HP:0002073	Progressive cerebellar ataxia	HP:0040283	ORPHA:497764
4311	MME	HP:0002070	Limb ataxia	3/7	OMIM:617018
4311	MME	HP:0002070	Limb ataxia	HP:0040282	ORPHA:497764
4311	MME	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	HP:0040282	ORPHA:497764
4311	MME	HP:0003477	Peripheral axonal neuropathy	HP:0040281	ORPHA:497764
4311	MME	HP:0002172	Postural instability	6/7	OMIM:617018
4311	MME	HP:0003596	Middle age onset	4/7	OMIM:617018
4311	MME	HP:0003596	Middle age onset	8/10	OMIM:617017
4311	MME	HP:0003584	Late onset	3/7	OMIM:617018
4311	MME	HP:0002396	Cogwheel rigidity	HP:0040282	ORPHA:497764
4311	MME	HP:0003693	Distal amyotrophy	1/7	OMIM:617018
4311	MME	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:497764
4311	MME	HP:0003677	Slowly progressive	-	OMIM:617018
4311	MME	HP:0003677	Slowly progressive	-	OMIM:617017
4311	MME	HP:0002317	Unsteady gait	10/10	OMIM:617017
4311	MME	HP:0002317	Unsteady gait	HP:0040282	ORPHA:497764
4311	MME	HP:0007141	Sensorimotor neuropathy	6/7	OMIM:617018
4311	MME	HP:0007141	Sensorimotor neuropathy	-	OMIM:617017
4311	MME	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:497764
4311	MME	HP:0006855	Cerebellar vermis atrophy	2/7	OMIM:617018
4311	MME	HP:0006855	Cerebellar vermis atrophy	HP:0040283	ORPHA:497764
4311	MME	HP:0000639	Nystagmus	1/7	OMIM:617018
4311	MME	HP:0009053	Distal lower limb muscle weakness	10/10	OMIM:617017
4311	MME	HP:0009053	Distal lower limb muscle weakness	HP:0040281	ORPHA:497764
4311	MME	HP:0009027	Foot dorsiflexor weakness	-	OMIM:617017
4311	MME	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:497764
4311	MME	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:497764
4311	MME	HP:0000768	Pectus carinatum	4/7	OMIM:617018
4311	MME	HP:0000726	Dementia	-	ORPHA:497764
4311	MME	HP:0000726	Dementia	0/10	OMIM:617017
4311	MME	HP:0002936	Distal sensory impairment	3/7	OMIM:617018
4311	MME	HP:0002936	Distal sensory impairment	10/10	OMIM:617017
4311	MME	HP:0002936	Distal sensory impairment	HP:0040282	ORPHA:497764
4311	MME	HP:0031437	Pregnancy exposure	HP:0040281	ORPHA:69063
4311	MME	HP:0025710	Late young adult onset	2/10	OMIM:617017
4311	MME	HP:0001761	Pes cavus	HP:0040282	ORPHA:497764
4311	MME	HP:0001761	Pes cavus	2/7	OMIM:617018
4311	MME	HP:0000571	Hypometric saccades	HP:0040282	ORPHA:497764
4311	MME	HP:0000571	Hypometric saccades	1/7	OMIM:617018
4311	MME	HP:0012531	Pain	HP:0040282	ORPHA:497764
4311	MME	HP:0012514	Lower limb pain	2/7	OMIM:617018
4312	MMP1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:79408
4312	MMP1	HP:0000099	Glomerulonephritis	HP:0040283	ORPHA:79408
4312	MMP1	HP:0012056	Cutaneous melanoma	HP:0040283	ORPHA:79408
4312	MMP1	HP:0000079	Abnormality of the urinary system	HP:0040284	ORPHA:79408
4312	MMP1	HP:0001371	Flexion contracture	HP:0040281	ORPHA:79408
4312	MMP1	HP:0002671	Basal cell carcinoma	-	ORPHA:79408
4312	MMP1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:79408
4312	MMP1	HP:0006297	Enamel hypoplasia	-	ORPHA:79408
4312	MMP1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:79408
4312	MMP1	HP:0002015	Dysphagia	HP:0040283	ORPHA:79408
4312	MMP1	HP:0100508	Abnormality of vitamin metabolism	HP:0040283	ORPHA:79408
4312	MMP1	HP:0100512	Decreased circulating vitamin D concentration	HP:0040283	ORPHA:79408
4312	MMP1	HP:0004791	Esophageal ulceration	HP:0040283	ORPHA:79408
4312	MMP1	HP:0011936	Decreased plasma total carnitine	HP:0040283	ORPHA:79408
4312	MMP1	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:79408
4312	MMP1	HP:0008366	Foot joint contracture	HP:0040283	ORPHA:79408
4312	MMP1	HP:0200097	Oral mucosal blisters	HP:0040281	ORPHA:79408
4312	MMP1	HP:0001056	Milia	HP:0040281	ORPHA:79408
4312	MMP1	HP:0001057	Aplasia cutis congenita	HP:0040283	ORPHA:79408
4312	MMP1	HP:0001030	Fragile skin	HP:0040281	ORPHA:79408
4312	MMP1	HP:0200020	Corneal erosion	HP:0040283	ORPHA:79408
4312	MMP1	HP:0001075	Atrophic scars	HP:0040281	ORPHA:79408
4312	MMP1	HP:0031831	Decreased serum zinc	HP:0040283	ORPHA:79408
4312	MMP1	HP:0012622	Chronic kidney disease	HP:0040283	ORPHA:79408
4312	MMP1	HP:0001965	Abnormal scalp morphology	HP:0040282	ORPHA:79408
4312	MMP1	HP:0001903	Anemia	HP:0040281	ORPHA:79408
4312	MMP1	HP:0001917	Renal amyloidosis	HP:0040283	ORPHA:79408
4312	MMP1	HP:0011354	Generalized abnormality of skin	HP:0040282	ORPHA:79408
4312	MMP1	HP:0000670	Carious teeth	HP:0040281	ORPHA:79408
4312	MMP1	HP:0004386	Gastrointestinal inflammation	HP:0040281	ORPHA:79408
4312	MMP1	HP:0004395	Malnutrition	HP:0040283	ORPHA:79408
4312	MMP1	HP:0031903	Abnormal circulating selenium concentration	HP:0040283	ORPHA:79408
4312	MMP1	HP:0000739	Anxiety	HP:0040282	ORPHA:79408
4312	MMP1	HP:0000716	Depression	HP:0040282	ORPHA:79408
4312	MMP1	HP:0000794	IgA deposition in the glomerulus	HP:0040283	ORPHA:79408
4312	MMP1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:79408
4312	MMP1	HP:0010296	Ankyloglossia	HP:0040283	ORPHA:79408
4312	MMP1	HP:0000982	Palmoplantar keratoderma	-	ORPHA:79408
4312	MMP1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:79408
4312	MMP1	HP:0000938	Osteopenia	HP:0040283	ORPHA:79408
4312	MMP1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79408
4312	MMP1	HP:0012252	Abnormal respiratory system morphology	-	ORPHA:79408
4312	MMP1	HP:0012227	Urethral stricture	HP:0040283	ORPHA:79408
4312	MMP1	HP:0001581	Recurrent skin infections	HP:0040283	ORPHA:79408
4312	MMP1	HP:0002860	Squamous cell carcinoma	HP:0040282	ORPHA:79408
4312	MMP1	HP:0032676	Chronic cutaneous wound	HP:0040282	ORPHA:79408
4312	MMP1	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040283	ORPHA:79408
4312	MMP1	HP:0001510	Growth delay	HP:0040281	ORPHA:79408
4312	MMP1	HP:0012390	Anal fissure	HP:0040283	ORPHA:79408
4312	MMP1	HP:0031446	Erosion of oral mucosa	HP:0040282	ORPHA:79408
4312	MMP1	HP:0031464	Genital blistering	HP:0040284	ORPHA:79408
4312	MMP1	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:79408
4312	MMP1	HP:0004057	Mitten deformity	HP:0040281	ORPHA:79408
4312	MMP1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:79408
4312	MMP1	HP:0001798	Anonychia	HP:0040282	ORPHA:79408
4312	MMP1	HP:0001891	Iron deficiency anemia	HP:0040282	ORPHA:79408
4312	MMP1	HP:0000572	Visual loss	HP:0040283	ORPHA:79408
4312	MMP1	HP:0012532	Chronic pain	HP:0040281	ORPHA:79408
4313	MMP2	HP:0001171	Split hand	-	OMIM:259600
4313	MMP2	HP:0025131	Finger swelling	-	OMIM:259600
4313	MMP2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4313	MMP2	HP:0001293	Cranial nerve compression	-	OMIM:131300
4313	MMP2	HP:0001288	Gait disturbance	1/1	OMIM:259600
4313	MMP2	HP:0001252	Hypotonia	2/7	OMIM:615777
4313	MMP2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:371428
4313	MMP2	HP:0001249	Intellectual disability	5/7	OMIM:615777
4313	MMP2	HP:0001263	Global developmental delay	-	OMIM:615777
4313	MMP2	HP:0001230	Broad metacarpals	HP:0040282	ORPHA:371428
4313	MMP2	HP:0001230	Broad metacarpals	1/1	OMIM:259600
4313	MMP2	HP:0001239	Wrist flexion contracture	-	OMIM:259600
4313	MMP2	HP:0006012	Widened metacarpal shaft	1/1	OMIM:259600
4313	MMP2	HP:0001220	Interphalangeal joint contracture of finger	1/1	OMIM:259600
4313	MMP2	HP:0002515	Waddling gait	54/102	OMIM:131300
4313	MMP2	HP:0006086	Thin metacarpal cortices	1/1	OMIM:259600
4313	MMP2	HP:0001369	Arthritis	HP:0040281	ORPHA:371428
4313	MMP2	HP:0001382	Joint hypermobility	-	OMIM:615777
4313	MMP2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4313	MMP2	HP:0006234	Osteolysis involving tarsal bones	HP:0040281	ORPHA:371428
4313	MMP2	HP:0006234	Osteolysis involving tarsal bones	1/1	OMIM:259600
4313	MMP2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4313	MMP2	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:371428
4313	MMP2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4313	MMP2	HP:0001324	Muscle weakness	40/96	OMIM:131300
4313	MMP2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4313	MMP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:259600
4313	MMP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4313	MMP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4313	MMP2	HP:0002650	Scoliosis	12/14	OMIM:131300
4313	MMP2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4313	MMP2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4313	MMP2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4313	MMP2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4313	MMP2	HP:0001495	Carpal osteolysis	HP:0040281	ORPHA:371428
4313	MMP2	HP:0001495	Carpal osteolysis	2/5	OMIM:259600
4313	MMP2	HP:0000175	Cleft palate	2/7	OMIM:615777
4313	MMP2	HP:0001473	Metatarsal osteolysis	1/1	OMIM:259600
4313	MMP2	HP:0001476	Delayed closure of the anterior fontanelle	-	OMIM:259600
4313	MMP2	HP:0002797	Osteolysis	HP:0040281	ORPHA:371428
4313	MMP2	HP:0001482	Subcutaneous nodule	2/6	OMIM:259600
4313	MMP2	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:371428
4313	MMP2	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:371428
4313	MMP2	HP:0006252	Interphalangeal joint erosions	1/1	OMIM:259600
4313	MMP2	HP:0002753	Thin bony cortex	1/1	OMIM:259600
4313	MMP2	HP:0002751	Kyphoscoliosis	2/5	OMIM:259600
4313	MMP2	HP:0005994	Nodular goiter	HP:0040283	ORPHA:371428
4313	MMP2	HP:0002007	Frontal bossing	-	OMIM:259600
4313	MMP2	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:371428
4313	MMP2	HP:0003320	C1-C2 subluxation	2/5	OMIM:259600
4313	MMP2	HP:0003388	Easy fatigability	36/76	OMIM:131300
4313	MMP2	HP:0008133	Distal tapering of metatarsals	-	OMIM:259600
4313	MMP2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4313	MMP2	HP:0005922	Abnormal hand morphology	HP:0040281	ORPHA:371428
4313	MMP2	HP:0003493	Antinuclear antibody positivity	-	OMIM:259600
4313	MMP2	HP:0010537	Wide cranial sutures	2/5	OMIM:259600
4313	MMP2	HP:0003593	Infantile onset	15/16	OMIM:259600
4313	MMP2	HP:0003510	Severe short stature	7/7	OMIM:615777
4313	MMP2	HP:0001059	Pterygium	HP:0040283	ORPHA:371428
4313	MMP2	HP:0001034	Hypermelanotic macule	-	OMIM:259600
4313	MMP2	HP:0001007	Hirsutism	HP:0040281	ORPHA:371428
4313	MMP2	HP:0001007	Hirsutism	3/3	OMIM:259600
4313	MMP2	HP:0002315	Headache	-	OMIM:131300
4313	MMP2	HP:0004976	Knee dislocation	6/7	OMIM:615777
4313	MMP2	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:371428
4313	MMP2	HP:0001072	Thickened skin	-	OMIM:259600
4313	MMP2	HP:0009803	Short phalanx of finger	-	OMIM:615777
4313	MMP2	HP:0001085	Papilledema	HP:0040283	ORPHA:371428
4313	MMP2	HP:0009763	Limb pain	63/92	OMIM:131300
4313	MMP2	HP:0003621	Juvenile onset	-	OMIM:131300
4313	MMP2	HP:0003621	Juvenile onset	-	OMIM:259600
4313	MMP2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4313	MMP2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4313	MMP2	HP:6001056	Out-toeing	-	OMIM:131300
4313	MMP2	HP:0000651	Diplopia	-	OMIM:131300
4313	MMP2	HP:0000612	Iris coloboma	HP:0040283	ORPHA:371428
4313	MMP2	HP:0001956	Truncal obesity	2/7	OMIM:615777
4313	MMP2	HP:0001903	Anemia	HP:0040283	OMIM:131300
4313	MMP2	HP:0010049	Short metacarpal	-	OMIM:615777
4313	MMP2	HP:0011355	Localized skin lesion	HP:0040282	ORPHA:371428
4313	MMP2	HP:0000684	Delayed eruption of teeth	-	OMIM:259600
4313	MMP2	HP:0000678	Dental crowding	-	OMIM:615777
4313	MMP2	HP:0000670	Carious teeth	-	OMIM:131300
4313	MMP2	HP:0011304	Broad thumb	2/7	OMIM:615777
4313	MMP2	HP:0000668	Hypodontia	-	OMIM:615777
4313	MMP2	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:371428
4313	MMP2	HP:0000664	Synophrys	-	OMIM:615777
4313	MMP2	HP:0004322	Short stature	-	OMIM:259600
4313	MMP2	HP:0004396	Poor appetite	-	OMIM:131300
4313	MMP2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4313	MMP2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4313	MMP2	HP:0003040	Arthropathy	HP:0040281	ORPHA:371428
4313	MMP2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4313	MMP2	HP:0003016	Metaphyseal widening	1/1	OMIM:259600
4313	MMP2	HP:0003026	Short long bone	7/7	OMIM:615777
4313	MMP2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4313	MMP2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4313	MMP2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4313	MMP2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4313	MMP2	HP:0000750	Delayed speech and language development	-	OMIM:615777
4313	MMP2	HP:0011463	Childhood onset	1/5	OMIM:259600
4313	MMP2	HP:0011461	Fetal onset	7/7	OMIM:615777
4313	MMP2	HP:0009139	Osteolysis involving bones of the lower limbs	HP:0040281	ORPHA:371428
4313	MMP2	HP:0000774	Narrow chest	2/7	OMIM:615777
4313	MMP2	HP:0000916	Broad clavicles	HP:0040282	ORPHA:371428
4313	MMP2	HP:0000926	Platyspondyly	1/7	OMIM:615777
4313	MMP2	HP:0003179	Protrusio acetabuli	-	OMIM:259600
4313	MMP2	HP:0003180	Flat acetabular roof	-	OMIM:615777
4313	MMP2	HP:0004482	Relative macrocephaly	-	OMIM:615777
4313	MMP2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4313	MMP2	HP:0000822	Hypertension	HP:0040283	ORPHA:371428
4313	MMP2	HP:0000823	Delayed puberty	-	OMIM:131300
4313	MMP2	HP:0000894	Short clavicles	-	OMIM:615777
4313	MMP2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4313	MMP2	HP:0045039	Osteolysis involving bones of the upper limbs	HP:0040281	ORPHA:371428
4313	MMP2	HP:0003273	Hip contracture	-	OMIM:259600
4313	MMP2	HP:0008011	Peripheral opacification of the cornea	-	OMIM:259600
4313	MMP2	HP:0010314	Premature thelarche	HP:0040283	ORPHA:371428
4313	MMP2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4313	MMP2	HP:0000939	Osteoporosis	HP:0040281	ORPHA:371428
4313	MMP2	HP:0000939	Osteoporosis	-	OMIM:259600
4313	MMP2	HP:0000938	Osteopenia	HP:0040281	ORPHA:371428
4313	MMP2	HP:0000938	Osteopenia	-	OMIM:259600
4313	MMP2	HP:0008090	Ankylosis of feet small joints	-	OMIM:259600
4313	MMP2	HP:0008078	Thin metatarsal cortices	1/1	OMIM:259600
4313	MMP2	HP:0000286	Epicanthus	1/7	OMIM:615777
4313	MMP2	HP:0000280	Coarse facial features	5/5	OMIM:259600
4313	MMP2	HP:0000280	Coarse facial features	2/7	OMIM:615777
4313	MMP2	HP:0006466	Ankle flexion contracture	-	OMIM:259600
4313	MMP2	HP:0002829	Arthralgia	1/1	OMIM:259600
4313	MMP2	HP:0002827	Hip dislocation	3/7	OMIM:615777
4313	MMP2	HP:0000252	Microcephaly	-	OMIM:615777
4313	MMP2	HP:0000248	Brachycephaly	HP:0040282	ORPHA:371428
4313	MMP2	HP:0000248	Brachycephaly	-	OMIM:259600
4313	MMP2	HP:0000212	Gingival overgrowth	4/5	OMIM:259600
4313	MMP2	HP:0002857	Genu valgum	-	OMIM:131300
4313	MMP2	HP:0001539	Omphalocele	HP:0040283	ORPHA:371428
4313	MMP2	HP:0001533	Slender build	-	OMIM:131300
4313	MMP2	HP:0001504	Metacarpal osteolysis	1/1	OMIM:259600
4313	MMP2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4313	MMP2	HP:0007807	Optic nerve compression	-	OMIM:131300
4313	MMP2	HP:0012368	Flat face	7/7	OMIM:615777
4313	MMP2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4313	MMP2	HP:0000365	Hearing impairment	10/67	OMIM:131300
4313	MMP2	HP:0000343	Long philtrum	1/7	OMIM:615777
4313	MMP2	HP:0011001	Increased bone mineral density	-	OMIM:131300
4313	MMP2	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:371428
4313	MMP2	HP:0001678	Atrioventricular block	HP:0040283	ORPHA:371428
4313	MMP2	HP:0000347	Micrognathia	-	OMIM:259600
4313	MMP2	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:371428
4313	MMP2	HP:0000316	Hypertelorism	-	OMIM:259600
4313	MMP2	HP:0000315	Abnormality of the orbital region	HP:0040283	ORPHA:371428
4313	MMP2	HP:0000311	Round face	2/7	OMIM:615777
4313	MMP2	HP:0000327	Hypoplasia of the maxilla	-	OMIM:259600
4313	MMP2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:371428
4313	MMP2	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:371428
4313	MMP2	HP:0002953	Vertebral compression fracture	-	OMIM:259600
4313	MMP2	HP:0002970	Genu varum	-	OMIM:615777
4313	MMP2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:371428
4313	MMP2	HP:0000303	Mandibular prognathia	-	OMIM:131300
4313	MMP2	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:371428
4313	MMP2	HP:0001634	Mitral valve prolapse	1/5	OMIM:259600
4313	MMP2	HP:0007957	Corneal opacity	2/5	OMIM:259600
4313	MMP2	HP:0001719	Double outlet right ventricle	HP:0040283	ORPHA:371428
4313	MMP2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4313	MMP2	HP:0000470	Short neck	1/7	OMIM:615777
4313	MMP2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4313	MMP2	HP:0001763	Pes planus	-	OMIM:259600
4313	MMP2	HP:0001763	Pes planus	1/7	OMIM:615777
4313	MMP2	HP:0001783	Broad metatarsal	11/11	OMIM:259600
4313	MMP2	HP:0000446	Narrow nasal bridge	-	OMIM:259600
4313	MMP2	HP:0000414	Bulbous nose	5/5	OMIM:259600
4313	MMP2	HP:0001761	Pes cavus	-	OMIM:259600
4313	MMP2	HP:0005441	Sclerotic cranial sutures	HP:0040282	ORPHA:371428
4313	MMP2	HP:0005441	Sclerotic cranial sutures	-	OMIM:259600
4313	MMP2	HP:0001840	Metatarsus adductus	-	OMIM:615777
4313	MMP2	HP:0000520	Proptosis	2/4	OMIM:131300
4313	MMP2	HP:0000520	Proptosis	-	OMIM:259600
4313	MMP2	HP:0000520	Proptosis	7/7	OMIM:615777
4313	MMP2	HP:0001836	Camptodactyly of toe	-	OMIM:259600
4313	MMP2	HP:0000592	Blue sclerae	2/7	OMIM:615777
4313	MMP2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4313	MMP2	HP:0012514	Lower limb pain	4/4	OMIM:131300
4318	MMP9	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4318	MMP9	HP:0001293	Cranial nerve compression	-	OMIM:131300
4318	MMP9	HP:0001252	Hypotonia	2/7	OMIM:615777
4318	MMP9	HP:0001249	Intellectual disability	5/7	OMIM:615777
4318	MMP9	HP:0001263	Global developmental delay	-	OMIM:615777
4318	MMP9	HP:0100864	Short femoral neck	2/2	OMIM:613073
4318	MMP9	HP:0002515	Waddling gait	54/102	OMIM:131300
4318	MMP9	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1040
4318	MMP9	HP:0001382	Joint hypermobility	-	OMIM:615777
4318	MMP9	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4318	MMP9	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4318	MMP9	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4318	MMP9	HP:0001324	Muscle weakness	40/96	OMIM:131300
4318	MMP9	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4318	MMP9	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4318	MMP9	HP:0000007	Autosomal recessive inheritance	-	OMIM:613073
4318	MMP9	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4318	MMP9	HP:0002650	Scoliosis	12/14	OMIM:131300
4318	MMP9	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4318	MMP9	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4318	MMP9	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4318	MMP9	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4318	MMP9	HP:0000175	Cleft palate	2/7	OMIM:615777
4318	MMP9	HP:0003388	Easy fatigability	36/76	OMIM:131300
4318	MMP9	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4318	MMP9	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:1040
4318	MMP9	HP:0003593	Infantile onset	2/2	OMIM:613073
4318	MMP9	HP:0003510	Severe short stature	7/7	OMIM:615777
4318	MMP9	HP:0002315	Headache	-	OMIM:131300
4318	MMP9	HP:0004976	Knee dislocation	6/7	OMIM:615777
4318	MMP9	HP:0009803	Short phalanx of finger	-	OMIM:615777
4318	MMP9	HP:0009763	Limb pain	63/92	OMIM:131300
4318	MMP9	HP:0003621	Juvenile onset	-	OMIM:131300
4318	MMP9	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4318	MMP9	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4318	MMP9	HP:6001056	Out-toeing	-	OMIM:131300
4318	MMP9	HP:0000651	Diplopia	-	OMIM:131300
4318	MMP9	HP:0001956	Truncal obesity	2/7	OMIM:615777
4318	MMP9	HP:0001903	Anemia	HP:0040283	OMIM:131300
4318	MMP9	HP:0010049	Short metacarpal	-	OMIM:615777
4318	MMP9	HP:0000678	Dental crowding	-	OMIM:615777
4318	MMP9	HP:0000670	Carious teeth	-	OMIM:131300
4318	MMP9	HP:0011304	Broad thumb	2/7	OMIM:615777
4318	MMP9	HP:0000668	Hypodontia	-	OMIM:615777
4318	MMP9	HP:0000664	Synophrys	-	OMIM:615777
4318	MMP9	HP:0004322	Short stature	HP:0040281	ORPHA:1040
4318	MMP9	HP:0004396	Poor appetite	-	OMIM:131300
4318	MMP9	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4318	MMP9	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4318	MMP9	HP:0003016	Metaphyseal widening	2/2	OMIM:613073
4318	MMP9	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4318	MMP9	HP:0003026	Short long bone	7/7	OMIM:615777
4318	MMP9	HP:0003025	Metaphyseal irregularity	2/2	OMIM:613073
4318	MMP9	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4318	MMP9	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4318	MMP9	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4318	MMP9	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4318	MMP9	HP:0000750	Delayed speech and language development	-	OMIM:615777
4318	MMP9	HP:0011461	Fetal onset	7/7	OMIM:615777
4318	MMP9	HP:0000774	Narrow chest	2/7	OMIM:615777
4318	MMP9	HP:0000926	Platyspondyly	1/7	OMIM:615777
4318	MMP9	HP:0003180	Flat acetabular roof	-	OMIM:615777
4318	MMP9	HP:0004482	Relative macrocephaly	-	OMIM:615777
4318	MMP9	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4318	MMP9	HP:0000823	Delayed puberty	-	OMIM:131300
4318	MMP9	HP:0040071	Abnormal morphology of ulna	HP:0040281	ORPHA:1040
4318	MMP9	HP:0000894	Short clavicles	-	OMIM:615777
4318	MMP9	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4318	MMP9	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4318	MMP9	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1040
4318	MMP9	HP:0000286	Epicanthus	1/7	OMIM:615777
4318	MMP9	HP:0000280	Coarse facial features	2/7	OMIM:615777
4318	MMP9	HP:0002814	Abnormality of the lower limb	HP:0040281	ORPHA:1040
4318	MMP9	HP:0002827	Hip dislocation	3/7	OMIM:615777
4318	MMP9	HP:0000252	Microcephaly	-	OMIM:615777
4318	MMP9	HP:0002857	Genu valgum	-	OMIM:131300
4318	MMP9	HP:0001533	Slender build	-	OMIM:131300
4318	MMP9	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4318	MMP9	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:1040
4318	MMP9	HP:0007807	Optic nerve compression	-	OMIM:131300
4318	MMP9	HP:0012368	Flat face	7/7	OMIM:615777
4318	MMP9	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4318	MMP9	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:1040
4318	MMP9	HP:0000365	Hearing impairment	10/67	OMIM:131300
4318	MMP9	HP:0000343	Long philtrum	1/7	OMIM:615777
4318	MMP9	HP:0011001	Increased bone mineral density	-	OMIM:131300
4318	MMP9	HP:0002983	Micromelia	0/2	OMIM:613073
4318	MMP9	HP:0002979	Bowing of the legs	2/2	OMIM:613073
4318	MMP9	HP:0000311	Round face	2/7	OMIM:615777
4318	MMP9	HP:0002970	Genu varum	2/2	OMIM:613073
4318	MMP9	HP:0002970	Genu varum	-	OMIM:615777
4318	MMP9	HP:0000303	Mandibular prognathia	-	OMIM:131300
4318	MMP9	HP:0004039	Abnormal ulnar metaphysis morphology	HP:0040281	ORPHA:1040
4318	MMP9	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4318	MMP9	HP:0000470	Short neck	1/7	OMIM:615777
4318	MMP9	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4318	MMP9	HP:0001763	Pes planus	1/7	OMIM:615777
4318	MMP9	HP:0001840	Metatarsus adductus	-	OMIM:615777
4318	MMP9	HP:0000520	Proptosis	2/4	OMIM:131300
4318	MMP9	HP:0000520	Proptosis	7/7	OMIM:615777
4318	MMP9	HP:0000592	Blue sclerae	2/7	OMIM:615777
4318	MMP9	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4318	MMP9	HP:0012514	Lower limb pain	4/4	OMIM:131300
4322	MMP13	HP:0010886	Osteochondritis dissecans	1/3	OMIM:250400
4322	MMP13	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4322	MMP13	HP:0001293	Cranial nerve compression	-	OMIM:131300
4322	MMP13	HP:0001270	Motor delay	-	OMIM:250400
4322	MMP13	HP:0001288	Gait disturbance	HP:0040281	ORPHA:2501
4322	MMP13	HP:0001252	Hypotonia	2/7	OMIM:615777
4322	MMP13	HP:0001249	Intellectual disability	5/7	OMIM:615777
4322	MMP13	HP:0001263	Global developmental delay	-	OMIM:615777
4322	MMP13	HP:0002515	Waddling gait	54/102	OMIM:131300
4322	MMP13	HP:0002515	Waddling gait	-	OMIM:602111
4322	MMP13	HP:0002515	Waddling gait	-	OMIM:250400
4322	MMP13	HP:0025369	Thick growth plates	HP:0040282	ORPHA:93356
4322	MMP13	HP:0001377	Limited elbow extension	-	OMIM:602111
4322	MMP13	HP:0001385	Hip dysplasia	HP:0040281	ORPHA:2501
4322	MMP13	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1040
4322	MMP13	HP:0001382	Joint hypermobility	-	OMIM:615777
4322	MMP13	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4322	MMP13	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4322	MMP13	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4322	MMP13	HP:0001324	Muscle weakness	40/96	OMIM:131300
4322	MMP13	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4322	MMP13	HP:0000007	Autosomal recessive inheritance	-	OMIM:250400
4322	MMP13	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4322	MMP13	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4322	MMP13	HP:0000006	Autosomal dominant inheritance	-	OMIM:602111
4322	MMP13	HP:0002650	Scoliosis	HP:0040282	ORPHA:2501
4322	MMP13	HP:0002650	Scoliosis	12/14	OMIM:131300
4322	MMP13	HP:0002651	Spondyloepimetaphyseal dysplasia	-	OMIM:602111
4322	MMP13	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4322	MMP13	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4322	MMP13	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4322	MMP13	HP:0008905	Rhizomelia	-	OMIM:602111
4322	MMP13	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4322	MMP13	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:2501
4322	MMP13	HP:0000175	Cleft palate	2/7	OMIM:615777
4322	MMP13	HP:0002758	Osteoarthritis	-	OMIM:602111
4322	MMP13	HP:0002750	Delayed skeletal maturation	-	OMIM:602111
4322	MMP13	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2501
4322	MMP13	HP:0003307	Hyperlordosis	HP:0040281	ORPHA:2501
4322	MMP13	HP:0003388	Easy fatigability	36/76	OMIM:131300
4322	MMP13	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4322	MMP13	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:1040
4322	MMP13	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:2501
4322	MMP13	HP:0003498	Disproportionate short stature	HP:0040282	ORPHA:93356
4322	MMP13	HP:0003498	Disproportionate short stature	-	OMIM:250400
4322	MMP13	HP:0003498	Disproportionate short stature	HP:0040281	ORPHA:2501
4322	MMP13	HP:0010585	Small epiphyses	-	OMIM:602111
4322	MMP13	HP:0010585	Small epiphyses	HP:0040282	ORPHA:93356
4322	MMP13	HP:0003593	Infantile onset	1/1	OMIM:250400
4322	MMP13	HP:0003510	Severe short stature	7/7	OMIM:615777
4322	MMP13	HP:0004979	Metaphyseal sclerosis	-	OMIM:250400
4322	MMP13	HP:0002315	Headache	-	OMIM:131300
4322	MMP13	HP:0004976	Knee dislocation	6/7	OMIM:615777
4322	MMP13	HP:0009803	Short phalanx of finger	-	OMIM:615777
4322	MMP13	HP:0008476	Irregular sclerotic endplates	-	OMIM:602111
4322	MMP13	HP:0009763	Limb pain	63/92	OMIM:131300
4322	MMP13	HP:0003621	Juvenile onset	1/1	OMIM:250400
4322	MMP13	HP:0003621	Juvenile onset	-	OMIM:131300
4322	MMP13	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4322	MMP13	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4322	MMP13	HP:6001056	Out-toeing	-	OMIM:131300
4322	MMP13	HP:0000651	Diplopia	-	OMIM:131300
4322	MMP13	HP:0001956	Truncal obesity	2/7	OMIM:615777
4322	MMP13	HP:0001903	Anemia	HP:0040283	OMIM:131300
4322	MMP13	HP:0010049	Short metacarpal	-	OMIM:615777
4322	MMP13	HP:0000678	Dental crowding	-	OMIM:615777
4322	MMP13	HP:0000670	Carious teeth	-	OMIM:131300
4322	MMP13	HP:0000670	Carious teeth	HP:0040282	ORPHA:2501
4322	MMP13	HP:0011304	Broad thumb	2/7	OMIM:615777
4322	MMP13	HP:0000668	Hypodontia	-	OMIM:615777
4322	MMP13	HP:0000664	Synophrys	-	OMIM:615777
4322	MMP13	HP:0004322	Short stature	HP:0040281	ORPHA:1040
4322	MMP13	HP:0004322	Short stature	1/3	OMIM:250400
4322	MMP13	HP:0003071	Flattened epiphysis	-	OMIM:602111
4322	MMP13	HP:0003071	Flattened epiphysis	HP:0040282	ORPHA:93356
4322	MMP13	HP:0004396	Poor appetite	-	OMIM:131300
4322	MMP13	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4322	MMP13	HP:0003031	Ulnar bowing	-	OMIM:602111
4322	MMP13	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4322	MMP13	HP:0003015	Flared metaphysis	-	OMIM:602111
4322	MMP13	HP:0003015	Flared metaphysis	HP:0040282	ORPHA:93356
4322	MMP13	HP:0003016	Metaphyseal widening	-	OMIM:250400
4322	MMP13	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4322	MMP13	HP:0003026	Short long bone	7/7	OMIM:615777
4322	MMP13	HP:0003025	Metaphyseal irregularity	HP:0040282	ORPHA:93356
4322	MMP13	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4322	MMP13	HP:0003021	Metaphyseal cupping	-	OMIM:602111
4322	MMP13	HP:0004349	Reduced bone mineral density	HP:0040281	ORPHA:2501
4322	MMP13	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4322	MMP13	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4322	MMP13	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4322	MMP13	HP:0000750	Delayed speech and language development	-	OMIM:615777
4322	MMP13	HP:0011461	Fetal onset	7/7	OMIM:615777
4322	MMP13	HP:0000774	Narrow chest	2/7	OMIM:615777
4322	MMP13	HP:0000926	Platyspondyly	-	OMIM:602111
4322	MMP13	HP:0000926	Platyspondyly	1/7	OMIM:615777
4322	MMP13	HP:0003180	Flat acetabular roof	-	OMIM:615777
4322	MMP13	HP:0004482	Relative macrocephaly	-	OMIM:615777
4322	MMP13	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4322	MMP13	HP:0000823	Delayed puberty	-	OMIM:131300
4322	MMP13	HP:0040071	Abnormal morphology of ulna	HP:0040281	ORPHA:1040
4322	MMP13	HP:0000894	Short clavicles	-	OMIM:615777
4322	MMP13	HP:0004566	Pear-shaped vertebrae	-	OMIM:602111
4322	MMP13	HP:0004566	Pear-shaped vertebrae	HP:0040282	ORPHA:93356
4322	MMP13	HP:0005871	Metaphyseal chondrodysplasia	-	OMIM:250400
4322	MMP13	HP:0005871	Metaphyseal chondrodysplasia	HP:0040281	ORPHA:2501
4322	MMP13	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4322	MMP13	HP:0030839	Knee pain	2/3	OMIM:250400
4322	MMP13	HP:0100255	Metaphyseal dysplasia	3/3	OMIM:250400
4322	MMP13	HP:0100255	Metaphyseal dysplasia	HP:0040281	ORPHA:2501
4322	MMP13	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4322	MMP13	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1040
4322	MMP13	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2501
4322	MMP13	HP:0000286	Epicanthus	1/7	OMIM:615777
4322	MMP13	HP:0000280	Coarse facial features	2/7	OMIM:615777
4322	MMP13	HP:0006409	Progressive leg bowing	-	OMIM:250400
4322	MMP13	HP:0006409	Progressive leg bowing	HP:0040281	ORPHA:2501
4322	MMP13	HP:0002814	Abnormality of the lower limb	HP:0040281	ORPHA:1040
4322	MMP13	HP:0002812	Coxa vara	-	OMIM:602111
4322	MMP13	HP:0002827	Hip dislocation	3/7	OMIM:615777
4322	MMP13	HP:0005086	Knee osteoarthritis	HP:0040282	ORPHA:93356
4322	MMP13	HP:0006385	Short lower limbs	-	OMIM:250400
4322	MMP13	HP:0006385	Short lower limbs	HP:0040282	ORPHA:93356
4322	MMP13	HP:0006385	Short lower limbs	HP:0040281	ORPHA:2501
4322	MMP13	HP:0000252	Microcephaly	-	OMIM:615777
4322	MMP13	HP:0002857	Genu valgum	-	OMIM:131300
4322	MMP13	HP:0002857	Genu valgum	-	OMIM:250400
4322	MMP13	HP:0002869	Flared iliac wing	-	OMIM:602111
4322	MMP13	HP:0001533	Slender build	-	OMIM:131300
4322	MMP13	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4322	MMP13	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:1040
4322	MMP13	HP:0007807	Optic nerve compression	-	OMIM:131300
4322	MMP13	HP:0012368	Flat face	7/7	OMIM:615777
4322	MMP13	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4322	MMP13	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:1040
4322	MMP13	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:2501
4322	MMP13	HP:0000365	Hearing impairment	10/67	OMIM:131300
4322	MMP13	HP:0000343	Long philtrum	1/7	OMIM:615777
4322	MMP13	HP:0011001	Increased bone mineral density	-	OMIM:131300
4322	MMP13	HP:0002982	Tibial bowing	-	OMIM:602111
4322	MMP13	HP:0002982	Tibial bowing	HP:0040282	ORPHA:93356
4322	MMP13	HP:0002980	Femoral bowing	-	OMIM:602111
4322	MMP13	HP:0002980	Femoral bowing	HP:0040282	ORPHA:93356
4322	MMP13	HP:0002979	Bowing of the legs	1/1	OMIM:250400
4322	MMP13	HP:0000311	Round face	2/7	OMIM:615777
4322	MMP13	HP:0002986	Radial bowing	-	OMIM:602111
4322	MMP13	HP:0002970	Genu varum	-	OMIM:602111
4322	MMP13	HP:0002970	Genu varum	HP:0040282	ORPHA:93356
4322	MMP13	HP:0002970	Genu varum	-	OMIM:615777
4322	MMP13	HP:0002970	Genu varum	HP:0040281	ORPHA:2501
4322	MMP13	HP:0000303	Mandibular prognathia	-	OMIM:131300
4322	MMP13	HP:0006603	Flared, irregular rib ends	-	OMIM:602111
4322	MMP13	HP:0004039	Abnormal ulnar metaphysis morphology	HP:0040281	ORPHA:1040
4322	MMP13	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4322	MMP13	HP:0000470	Short neck	1/7	OMIM:615777
4322	MMP13	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4322	MMP13	HP:0001763	Pes planus	1/7	OMIM:615777
4322	MMP13	HP:0001840	Metatarsus adductus	-	OMIM:615777
4322	MMP13	HP:0000520	Proptosis	2/4	OMIM:131300
4322	MMP13	HP:0000520	Proptosis	7/7	OMIM:615777
4322	MMP13	HP:0000592	Blue sclerae	2/7	OMIM:615777
4322	MMP13	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4322	MMP13	HP:0012514	Lower limb pain	4/4	OMIM:131300
4323	MMP14	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4323	MMP14	HP:0001293	Cranial nerve compression	-	OMIM:131300
4323	MMP14	HP:0001252	Hypotonia	2/7	OMIM:615777
4323	MMP14	HP:0001249	Intellectual disability	HP:0040283	ORPHA:371428
4323	MMP14	HP:0001249	Intellectual disability	5/7	OMIM:615777
4323	MMP14	HP:0001263	Global developmental delay	-	OMIM:615777
4323	MMP14	HP:0001230	Broad metacarpals	HP:0040282	ORPHA:371428
4323	MMP14	HP:0001230	Broad metacarpals	0/2	OMIM:277950
4323	MMP14	HP:0002515	Waddling gait	54/102	OMIM:131300
4323	MMP14	HP:0001369	Arthritis	HP:0040281	ORPHA:371428
4323	MMP14	HP:0001382	Joint hypermobility	-	OMIM:615777
4323	MMP14	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4323	MMP14	HP:0006234	Osteolysis involving tarsal bones	HP:0040281	ORPHA:371428
4323	MMP14	HP:0006234	Osteolysis involving tarsal bones	2/2	OMIM:277950
4323	MMP14	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4323	MMP14	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:371428
4323	MMP14	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4323	MMP14	HP:0001324	Muscle weakness	40/96	OMIM:131300
4323	MMP14	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4323	MMP14	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4323	MMP14	HP:0000007	Autosomal recessive inheritance	-	OMIM:277950
4323	MMP14	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4323	MMP14	HP:0002650	Scoliosis	12/14	OMIM:131300
4323	MMP14	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4323	MMP14	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4323	MMP14	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4323	MMP14	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4323	MMP14	HP:0001495	Carpal osteolysis	HP:0040281	ORPHA:371428
4323	MMP14	HP:0001495	Carpal osteolysis	2/2	OMIM:277950
4323	MMP14	HP:0000175	Cleft palate	2/7	OMIM:615777
4323	MMP14	HP:0002797	Osteolysis	HP:0040281	ORPHA:371428
4323	MMP14	HP:0001482	Subcutaneous nodule	0/2	OMIM:277950
4323	MMP14	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:371428
4323	MMP14	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:371428
4323	MMP14	HP:0005994	Nodular goiter	HP:0040283	ORPHA:371428
4323	MMP14	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:371428
4323	MMP14	HP:0003388	Easy fatigability	36/76	OMIM:131300
4323	MMP14	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4323	MMP14	HP:0005922	Abnormal hand morphology	HP:0040281	ORPHA:371428
4323	MMP14	HP:0003593	Infantile onset	1/2	OMIM:277950
4323	MMP14	HP:0003510	Severe short stature	7/7	OMIM:615777
4323	MMP14	HP:0001059	Pterygium	HP:0040283	ORPHA:371428
4323	MMP14	HP:0001007	Hirsutism	1/2	OMIM:277950
4323	MMP14	HP:0001007	Hirsutism	HP:0040281	ORPHA:371428
4323	MMP14	HP:0002315	Headache	-	OMIM:131300
4323	MMP14	HP:0004976	Knee dislocation	6/7	OMIM:615777
4323	MMP14	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:371428
4323	MMP14	HP:0009803	Short phalanx of finger	-	OMIM:615777
4323	MMP14	HP:0001085	Papilledema	HP:0040283	ORPHA:371428
4323	MMP14	HP:0009763	Limb pain	63/92	OMIM:131300
4323	MMP14	HP:0003621	Juvenile onset	-	OMIM:131300
4323	MMP14	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4323	MMP14	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4323	MMP14	HP:6001056	Out-toeing	-	OMIM:131300
4323	MMP14	HP:0000651	Diplopia	-	OMIM:131300
4323	MMP14	HP:0000612	Iris coloboma	HP:0040283	ORPHA:371428
4323	MMP14	HP:0001956	Truncal obesity	2/7	OMIM:615777
4323	MMP14	HP:0001903	Anemia	HP:0040283	OMIM:131300
4323	MMP14	HP:0010049	Short metacarpal	-	OMIM:615777
4323	MMP14	HP:0011355	Localized skin lesion	HP:0040282	ORPHA:371428
4323	MMP14	HP:0000678	Dental crowding	-	OMIM:615777
4323	MMP14	HP:0000670	Carious teeth	-	OMIM:131300
4323	MMP14	HP:0011304	Broad thumb	2/7	OMIM:615777
4323	MMP14	HP:0000668	Hypodontia	-	OMIM:615777
4323	MMP14	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:371428
4323	MMP14	HP:0000664	Synophrys	-	OMIM:615777
4323	MMP14	HP:0004396	Poor appetite	-	OMIM:131300
4323	MMP14	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4323	MMP14	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4323	MMP14	HP:0003040	Arthropathy	HP:0040281	ORPHA:371428
4323	MMP14	HP:0003040	Arthropathy	-	OMIM:277950
4323	MMP14	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4323	MMP14	HP:0003026	Short long bone	7/7	OMIM:615777
4323	MMP14	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4323	MMP14	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4323	MMP14	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4323	MMP14	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4323	MMP14	HP:0000750	Delayed speech and language development	-	OMIM:615777
4323	MMP14	HP:0011463	Childhood onset	1/2	OMIM:277950
4323	MMP14	HP:0011461	Fetal onset	7/7	OMIM:615777
4323	MMP14	HP:0009139	Osteolysis involving bones of the lower limbs	HP:0040281	ORPHA:371428
4323	MMP14	HP:0000774	Narrow chest	2/7	OMIM:615777
4323	MMP14	HP:0000916	Broad clavicles	HP:0040282	ORPHA:371428
4323	MMP14	HP:0000926	Platyspondyly	1/7	OMIM:615777
4323	MMP14	HP:0003180	Flat acetabular roof	-	OMIM:615777
4323	MMP14	HP:0004482	Relative macrocephaly	-	OMIM:615777
4323	MMP14	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4323	MMP14	HP:0000822	Hypertension	HP:0040283	ORPHA:371428
4323	MMP14	HP:0000823	Delayed puberty	-	OMIM:131300
4323	MMP14	HP:0000894	Short clavicles	-	OMIM:615777
4323	MMP14	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4323	MMP14	HP:0045039	Osteolysis involving bones of the upper limbs	HP:0040281	ORPHA:371428
4323	MMP14	HP:0010314	Premature thelarche	HP:0040283	ORPHA:371428
4323	MMP14	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4323	MMP14	HP:0000939	Osteoporosis	HP:0040281	ORPHA:371428
4323	MMP14	HP:0000938	Osteopenia	HP:0040281	ORPHA:371428
4323	MMP14	HP:0040160	Generalized osteoporosis	2/2	OMIM:277950
4323	MMP14	HP:0000286	Epicanthus	1/7	OMIM:615777
4323	MMP14	HP:0000280	Coarse facial features	2/2	OMIM:277950
4323	MMP14	HP:0000280	Coarse facial features	2/7	OMIM:615777
4323	MMP14	HP:0002827	Hip dislocation	3/7	OMIM:615777
4323	MMP14	HP:0002808	Kyphosis	2/2	OMIM:277950
4323	MMP14	HP:0000252	Microcephaly	-	OMIM:615777
4323	MMP14	HP:0000248	Brachycephaly	HP:0040282	ORPHA:371428
4323	MMP14	HP:0000212	Gingival overgrowth	-	OMIM:277950
4323	MMP14	HP:0002857	Genu valgum	-	OMIM:131300
4323	MMP14	HP:0001539	Omphalocele	HP:0040283	ORPHA:371428
4323	MMP14	HP:0001533	Slender build	-	OMIM:131300
4323	MMP14	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4323	MMP14	HP:0007807	Optic nerve compression	-	OMIM:131300
4323	MMP14	HP:0012368	Flat face	7/7	OMIM:615777
4323	MMP14	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4323	MMP14	HP:0000365	Hearing impairment	10/67	OMIM:131300
4323	MMP14	HP:0000343	Long philtrum	1/7	OMIM:615777
4323	MMP14	HP:0011001	Increased bone mineral density	-	OMIM:131300
4323	MMP14	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:371428
4323	MMP14	HP:0001678	Atrioventricular block	HP:0040283	ORPHA:371428
4323	MMP14	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:371428
4323	MMP14	HP:0000315	Abnormality of the orbital region	HP:0040283	ORPHA:371428
4323	MMP14	HP:0000311	Round face	2/7	OMIM:615777
4323	MMP14	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:371428
4323	MMP14	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:371428
4323	MMP14	HP:0002970	Genu varum	-	OMIM:615777
4323	MMP14	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:371428
4323	MMP14	HP:0000303	Mandibular prognathia	-	OMIM:131300
4323	MMP14	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:371428
4323	MMP14	HP:0007957	Corneal opacity	0/2	OMIM:277950
4323	MMP14	HP:0001719	Double outlet right ventricle	HP:0040283	ORPHA:371428
4323	MMP14	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4323	MMP14	HP:0000470	Short neck	1/7	OMIM:615777
4323	MMP14	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4323	MMP14	HP:0001763	Pes planus	1/7	OMIM:615777
4323	MMP14	HP:0005441	Sclerotic cranial sutures	HP:0040282	ORPHA:371428
4323	MMP14	HP:0001840	Metatarsus adductus	-	OMIM:615777
4323	MMP14	HP:0000520	Proptosis	2/4	OMIM:131300
4323	MMP14	HP:0000520	Proptosis	7/7	OMIM:615777
4323	MMP14	HP:0000592	Blue sclerae	2/7	OMIM:615777
4323	MMP14	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4323	MMP14	HP:0012514	Lower limb pain	4/4	OMIM:131300
4327	MMP19	HP:0001123	Visual field defect	-	OMIM:611543
4327	MMP19	HP:0000006	Autosomal dominant inheritance	-	OMIM:611543
4327	MMP19	HP:0007663	Reduced visual acuity	-	OMIM:611543
4327	MMP19	HP:0500087	Peripapillary atrophy	HP:0040284	OMIM:611543
4327	MMP19	HP:0000662	Nyctalopia	HP:0040283	OMIM:611543
4329	ALDH6A1	HP:6000607	Elevated urinary 3-hydroxyisobutyric acid level	1/1	OMIM:614105
4329	ALDH6A1	HP:0001252	Hypotonia	1/1	OMIM:614105
4329	ALDH6A1	HP:0001263	Global developmental delay	1/1	OMIM:614105
4329	ALDH6A1	HP:0001332	Dystonia	1/1	OMIM:614105
4329	ALDH6A1	HP:0033725	Thin corpus callosum	1/1	OMIM:614105
4329	ALDH6A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614105
4329	ALDH6A1	HP:0012120	Methylmalonic aciduria	1/1	OMIM:614105
4329	ALDH6A1	HP:0002007	Frontal bossing	1/1	OMIM:614105
4329	ALDH6A1	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:614105
4329	ALDH6A1	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:614105
4329	ALDH6A1	HP:6000219	Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts	1/1	OMIM:614105
4329	ALDH6A1	HP:0002188	Delayed CNS myelination	1/1	OMIM:614105
4329	ALDH6A1	HP:0003593	Infantile onset	1/1	OMIM:614105
4329	ALDH6A1	HP:0011968	Feeding difficulties	-	OMIM:614105
4329	ALDH6A1	HP:0020079	Beta-alaninuria	1/1	OMIM:614105
4329	ALDH6A1	HP:0010804	Tented upper lip vermilion	1/1	OMIM:614105
4329	ALDH6A1	HP:0007165	Periventricular heterotopia	1/1	OMIM:614105
4329	ALDH6A1	HP:0001942	Metabolic acidosis	-	OMIM:614105
4329	ALDH6A1	HP:0010055	Broad hallux	1/1	OMIM:614105
4329	ALDH6A1	HP:0006956	Lateral ventricle dilatation	1/1	OMIM:614105
4329	ALDH6A1	HP:0003196	Short nose	1/1	OMIM:614105
4329	ALDH6A1	HP:0045034	Elevated urinary 3-aminoisobutyric acid	1/1	OMIM:614105
4329	ALDH6A1	HP:0000954	Single transverse palmar crease	1/1	OMIM:614105
4329	ALDH6A1	HP:0008070	Sparse hair	1/1	OMIM:614105
4329	ALDH6A1	HP:0040155	Elevated urinary 3-hydroxybutyric acid	1/1	OMIM:614105
4329	ALDH6A1	HP:0000286	Epicanthus	1/1	OMIM:614105
4329	ALDH6A1	HP:0000252	Microcephaly	-	OMIM:614105
4329	ALDH6A1	HP:0000218	High palate	1/1	OMIM:614105
4329	ALDH6A1	HP:0007814	Retinal pigment epithelial mottling	1/1	OMIM:614105
4329	ALDH6A1	HP:0002912	Methylmalonic acidemia	1/1	OMIM:614105
4329	ALDH6A1	HP:0000343	Long philtrum	-	OMIM:614105
4329	ALDH6A1	HP:0000348	High forehead	1/1	OMIM:614105
4329	ALDH6A1	HP:0000316	Hypertelorism	1/1	OMIM:614105
4329	ALDH6A1	HP:0000322	Short philtrum	1/1	OMIM:614105
4329	ALDH6A1	HP:0005280	Depressed nasal bridge	-	OMIM:614105
4329	ALDH6A1	HP:0000494	Downslanted palpebral fissures	-	OMIM:614105
4329	ALDH6A1	HP:0000463	Anteverted nares	1/1	OMIM:614105
4329	ALDH6A1	HP:0000414	Bulbous nose	-	OMIM:614105
4329	ALDH6A1	HP:0000518	Cataract	-	OMIM:614105
4329	ALDH6A1	HP:0000568	Microphthalmia	-	OMIM:614105
4330	MN1	HP:0009921	Duane anomaly	-	OMIM:618774
4330	MN1	HP:0001290	Generalized hypotonia	19/21	OMIM:618774
4330	MN1	HP:0001270	Motor delay	19/20	OMIM:618774
4330	MN1	HP:0001250	Seizure	6/21	OMIM:618774
4330	MN1	HP:0001249	Intellectual disability	16/17	OMIM:618774
4330	MN1	HP:0002591	Polyphagia	3/3	OMIM:618774
4330	MN1	HP:0002553	Highly arched eyebrow	2/3	OMIM:618774
4330	MN1	HP:0003829	Typified by incomplete penetrance	-	OMIM:607174
4330	MN1	HP:0001357	Plagiocephaly	-	OMIM:618774
4330	MN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618774
4330	MN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:607174
4330	MN1	HP:0011800	Midface retrusion	21/22	OMIM:618774
4330	MN1	HP:0002126	Polymicrogyria	2/3	OMIM:618774
4330	MN1	HP:0002167	Abnormal speech pattern	3/3	OMIM:618774
4330	MN1	HP:0003581	Adult onset	-	OMIM:607174
4330	MN1	HP:0011968	Feeding difficulties	14/21	OMIM:618774
4330	MN1	HP:0000639	Nystagmus	-	OMIM:618774
4330	MN1	HP:0011344	Severe global developmental delay	3/3	OMIM:618774
4330	MN1	HP:0000750	Delayed speech and language development	18/20	OMIM:618774
4330	MN1	HP:0000776	Congenital diaphragmatic hernia	2/21	OMIM:618774
4330	MN1	HP:0003196	Short nose	3/3	OMIM:618774
4330	MN1	HP:0033011	Platystencephaly	1/3	OMIM:618774
4330	MN1	HP:0000262	Turricephaly	-	OMIM:618774
4330	MN1	HP:0000268	Dolichocephaly	12/13	OMIM:618774
4330	MN1	HP:0000248	Brachycephaly	-	OMIM:618774
4330	MN1	HP:0000218	High palate	15/21	OMIM:618774
4330	MN1	HP:0002858	Meningioma	-	OMIM:607174
4330	MN1	HP:0012368	Flat face	3/3	OMIM:618774
4330	MN1	HP:0000377	Abnormal pinna morphology	22/22	OMIM:618774
4330	MN1	HP:0000365	Hearing impairment	16/20	OMIM:618774
4330	MN1	HP:0000358	Posteriorly rotated ears	2/3	OMIM:618774
4330	MN1	HP:0000369	Low-set ears	3/3	OMIM:618774
4330	MN1	HP:0000341	Narrow forehead	-	OMIM:618774
4330	MN1	HP:0000316	Hypertelorism	22/24	OMIM:618774
4330	MN1	HP:0005280	Depressed nasal bridge	2/3	OMIM:618774
4330	MN1	HP:0000486	Strabismus	-	OMIM:618774
4330	MN1	HP:0000494	Downslanted palpebral fissures	15/21	OMIM:618774
4330	MN1	HP:0000463	Anteverted nares	24/25	OMIM:618774
4330	MN1	HP:0000457	Depressed nasal ridge	2/3	OMIM:618774
4330	MN1	HP:0011220	Prominent forehead	2/3	OMIM:618774
4330	MN1	HP:0000574	Thick eyebrow	3/3	OMIM:618774
4337	MOCS1	HP:0010934	Xanthinuria	-	OMIM:252150
4337	MOCS1	HP:0003739	Myoclonic spasms	-	OMIM:252150
4337	MOCS1	HP:0001285	Spastic tetraparesis	-	OMIM:252150
4337	MOCS1	HP:0001250	Seizure	-	OMIM:252150
4337	MOCS1	HP:0001249	Intellectual disability	-	OMIM:252150
4337	MOCS1	HP:0002510	Spastic tetraplegia	-	OMIM:252150
4337	MOCS1	HP:0003808	Abnormal muscle tone	-	OMIM:252150
4337	MOCS1	HP:0012019	Lens luxation	-	OMIM:252150
4337	MOCS1	HP:0008872	Feeding difficulties in infancy	-	OMIM:252150
4337	MOCS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:252150
4337	MOCS1	HP:0003359	Decreased urinary sulfate	-	OMIM:252150
4337	MOCS1	HP:0002007	Frontal bossing	-	OMIM:252150
4337	MOCS1	HP:0011814	Increased urinary hypoxanthine level	-	OMIM:252150
4337	MOCS1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:252150
4337	MOCS1	HP:0002059	Cerebral atrophy	-	OMIM:252150
4337	MOCS1	HP:0002119	Ventriculomegaly	-	OMIM:252150
4337	MOCS1	HP:0003447	Axonal loss	-	OMIM:252150
4337	MOCS1	HP:0011935	Decreased urinary urate	-	OMIM:252150
4337	MOCS1	HP:0002179	Opisthotonus	-	OMIM:252150
4337	MOCS1	HP:0002171	Gliosis	-	OMIM:252150
4337	MOCS1	HP:0003570	Molybdenum cofactor deficiency	-	OMIM:252150
4337	MOCS1	HP:0003537	Hypouricemia	-	OMIM:252150
4337	MOCS1	HP:0003534	Reduced xanthine dehydrogenase level	-	OMIM:252150
4337	MOCS1	HP:0011942	Increased urinary sulfite level	-	OMIM:252150
4337	MOCS1	HP:0011943	Increased urinary thiosulfate	-	OMIM:252150
4337	MOCS1	HP:0003676	Progressive	-	OMIM:252150
4337	MOCS1	HP:0001083	Ectopia lentis	-	OMIM:252150
4337	MOCS1	HP:0003643	Sulfite oxidase deficiency	-	OMIM:252150
4337	MOCS1	HP:0003606	Absent urinary urothione	-	OMIM:252150
4337	MOCS1	HP:0034744	Elevated urinary S-sulfocysteine level	-	OMIM:252150
4337	MOCS1	HP:0000639	Nystagmus	-	OMIM:252150
4337	MOCS1	HP:0000804	Xanthine nephrolithiasis	-	OMIM:252150
4337	MOCS1	HP:0003196	Short nose	-	OMIM:252150
4337	MOCS1	HP:0003166	Increased urinary taurine	-	OMIM:252150
4337	MOCS1	HP:0000293	Full cheeks	-	OMIM:252150
4337	MOCS1	HP:0000256	Macrocephaly	-	OMIM:252150
4337	MOCS1	HP:0000276	Long face	-	OMIM:252150
4337	MOCS1	HP:0000252	Microcephaly	-	OMIM:252150
4337	MOCS1	HP:0001510	Growth delay	-	OMIM:252150
4337	MOCS1	HP:0011096	Peripheral demyelination	-	OMIM:252150
4337	MOCS1	HP:0002932	Aldehyde oxidase deficiency	-	OMIM:252150
4337	MOCS1	HP:0000343	Long philtrum	-	OMIM:252150
4337	MOCS1	HP:0000316	Hypertelorism	-	OMIM:252150
4337	MOCS1	HP:0012471	Thick vermilion border	-	OMIM:252150
4338	MOCS2	HP:0010934	Xanthinuria	-	OMIM:252160
4338	MOCS2	HP:0003739	Myoclonic spasms	-	OMIM:252160
4338	MOCS2	HP:0001276	Hypertonia	-	OMIM:252160
4338	MOCS2	HP:0001250	Seizure	-	OMIM:252160
4338	MOCS2	HP:0001252	Hypotonia	1/1	OMIM:252160
4338	MOCS2	HP:0001263	Global developmental delay	1/1	OMIM:252160
4338	MOCS2	HP:0002510	Spastic tetraplegia	1/1	OMIM:252160
4338	MOCS2	HP:0002506	Diffuse cerebral atrophy	1/1	OMIM:252160
4338	MOCS2	HP:0003811	Neonatal death	1/1	OMIM:252160
4338	MOCS2	HP:0012019	Lens luxation	-	OMIM:252160
4338	MOCS2	HP:0033725	Thin corpus callosum	1/1	OMIM:252160
4338	MOCS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:252160
4338	MOCS2	HP:0002007	Frontal bossing	-	OMIM:252160
4338	MOCS2	HP:0011814	Increased urinary hypoxanthine level	-	OMIM:252160
4338	MOCS2	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:252160
4338	MOCS2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:252160
4338	MOCS2	HP:0002059	Cerebral atrophy	-	OMIM:252160
4338	MOCS2	HP:0002119	Ventriculomegaly	-	OMIM:252160
4338	MOCS2	HP:0003447	Axonal loss	-	OMIM:252160
4338	MOCS2	HP:0011935	Decreased urinary urate	1/1	OMIM:252160
4338	MOCS2	HP:0002179	Opisthotonus	1/1	OMIM:252160
4338	MOCS2	HP:0002171	Gliosis	-	OMIM:252160
4338	MOCS2	HP:0003570	Molybdenum cofactor deficiency	-	OMIM:252160
4338	MOCS2	HP:0003537	Hypouricemia	1/1	OMIM:252160
4338	MOCS2	HP:0011968	Feeding difficulties	1/1	OMIM:252160
4338	MOCS2	HP:0011942	Increased urinary sulfite level	1/1	OMIM:252160
4338	MOCS2	HP:0003676	Progressive	-	OMIM:252160
4338	MOCS2	HP:0001083	Ectopia lentis	-	OMIM:252160
4338	MOCS2	HP:0003623	Neonatal onset	1/1	OMIM:252160
4338	MOCS2	HP:0000639	Nystagmus	1/1	OMIM:252160
4338	MOCS2	HP:0000804	Xanthine nephrolithiasis	-	OMIM:252160
4338	MOCS2	HP:0000737	Irritability	1/1	OMIM:252160
4338	MOCS2	HP:0003196	Short nose	-	OMIM:252160
4338	MOCS2	HP:0003166	Increased urinary taurine	-	OMIM:252160
4338	MOCS2	HP:0000293	Full cheeks	-	OMIM:252160
4338	MOCS2	HP:0000256	Macrocephaly	-	OMIM:252160
4338	MOCS2	HP:0000276	Long face	-	OMIM:252160
4338	MOCS2	HP:0000252	Microcephaly	1/1	OMIM:252160
4338	MOCS2	HP:0001510	Growth delay	-	OMIM:252160
4338	MOCS2	HP:0011096	Peripheral demyelination	-	OMIM:252160
4338	MOCS2	HP:0000343	Long philtrum	-	OMIM:252160
4338	MOCS2	HP:0000316	Hypertelorism	-	OMIM:252160
4338	MOCS2	HP:0012471	Thick vermilion border	-	OMIM:252160
4340	MOG	HP:0002494	Abnormal rapid eye movement sleep	HP:0040282	ORPHA:2073
4340	MOG	HP:0025235	NREM parasomnia	HP:0040282	ORPHA:2073
4340	MOG	HP:0025233	Sleep paralysis	3/6	OMIM:614250
4340	MOG	HP:0025233	Sleep paralysis	HP:0040283	ORPHA:2073
4340	MOG	HP:0001279	Syncope	HP:0040283	ORPHA:2073
4340	MOG	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:2073
4340	MOG	HP:0001262	Excessive daytime somnolence	6/6	OMIM:614250
4340	MOG	HP:0002519	Hypnagogic hallucination	3/6	OMIM:614250
4340	MOG	HP:0002519	Hypnagogic hallucination	HP:0040282	ORPHA:2073
4340	MOG	HP:0002524	Cataplexy	6/6	OMIM:614250
4340	MOG	HP:0002524	Cataplexy	HP:0040281	ORPHA:2073
4340	MOG	HP:0001350	Slurred speech	HP:0040283	ORPHA:2073
4340	MOG	HP:0000017	Nocturia	HP:0040282	ORPHA:2073
4340	MOG	HP:0000006	Autosomal dominant inheritance	-	OMIM:614250
4340	MOG	HP:0007686	Abnormal pupillary function	HP:0040282	ORPHA:2073
4340	MOG	HP:0002019	Constipation	HP:0040282	ORPHA:2073
4340	MOG	HP:0040307	Male sexual dysfunction	HP:0040282	ORPHA:2073
4340	MOG	HP:0005978	Type II diabetes mellitus	2/6	OMIM:614250
4340	MOG	HP:0002076	Migraine	HP:0040283	ORPHA:2073
4340	MOG	HP:0010535	Sleep apnea	HP:0040283	ORPHA:2073
4340	MOG	HP:0010534	Transient global amnesia	HP:0040281	ORPHA:2073
4340	MOG	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:2073
4340	MOG	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:2073
4340	MOG	HP:0002307	Drooling	HP:0040282	ORPHA:2073
4340	MOG	HP:0006896	Hypnopompic hallucination	HP:0040282	ORPHA:2073
4340	MOG	HP:0000738	Hallucinations	HP:0040281	ORPHA:2073
4340	MOG	HP:0000739	Anxiety	HP:0040282	ORPHA:2073
4340	MOG	HP:0000716	Depression	HP:0040283	ORPHA:2073
4340	MOG	HP:0000711	Restlessness	HP:0040283	ORPHA:2073
4340	MOG	HP:0000709	Psychosis	HP:0040284	ORPHA:2073
4340	MOG	HP:0011462	Young adult onset	6/6	OMIM:614250
4340	MOG	HP:0000826	Precocious puberty	HP:0040283	ORPHA:2073
4340	MOG	HP:0000822	Hypertension	HP:0040282	ORPHA:2073
4340	MOG	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:2073
4340	MOG	HP:0030014	Female sexual dysfunction	HP:0040282	ORPHA:2073
4340	MOG	HP:0002870	Obstructive sleep apnea	3/6	OMIM:614250
4340	MOG	HP:0030050	Narcolepsy	-	OMIM:614250
4340	MOG	HP:0001513	Obesity	HP:0040283	ORPHA:2073
4340	MOG	HP:0001513	Obesity	5/6	OMIM:614250
4340	MOG	HP:0012452	Restless legs	HP:0040282	ORPHA:2073
4342	MOS	HP:0000007	Autosomal recessive inheritance	-	OMIM:620383
4342	MOS	HP:0000141	Amenorrhea	0/3	OMIM:620383
4342	MOS	HP:0008222	Female infertility	3/3	OMIM:620383
4342	MOS	HP:0011462	Young adult onset	3/3	OMIM:620383
4351	MPI	HP:0001290	Generalized hypotonia	-	OMIM:602579
4351	MPI	HP:0001252	Hypotonia	2/2	OMIM:602579
4351	MPI	HP:0001249	Intellectual disability	-	ORPHA:79319
4351	MPI	HP:0002570	Steatorrhea	2/2	OMIM:602579
4351	MPI	HP:0003819	Death in childhood	1/2	OMIM:602579
4351	MPI	HP:0001399	Hepatic failure	-	OMIM:602579
4351	MPI	HP:0001395	Hepatic fibrosis	HP:0040281	ORPHA:79319
4351	MPI	HP:0001395	Hepatic fibrosis	1/1	OMIM:602579
4351	MPI	HP:0001394	Cirrhosis	1/1	OMIM:602579
4351	MPI	HP:6000782	Reduced tissue phosphomannose isomerase activity	1/1	OMIM:602579
4351	MPI	HP:0000007	Autosomal recessive inheritance	-	OMIM:602579
4351	MPI	HP:0000114	Proximal tubulopathy	1/2	OMIM:602579
4351	MPI	HP:0000107	Renal cyst	2/2	OMIM:602579
4351	MPI	HP:0001410	Decreased liver function	HP:0040282	ORPHA:79319
4351	MPI	HP:0001409	Portal hypertension	HP:0040282	ORPHA:79319
4351	MPI	HP:0002014	Diarrhea	HP:0040281	ORPHA:79319
4351	MPI	HP:0002014	Diarrhea	2/2	OMIM:602579
4351	MPI	HP:0002013	Vomiting	HP:0040282	ORPHA:79319
4351	MPI	HP:0002013	Vomiting	2/2	OMIM:602579
4351	MPI	HP:0003593	Infantile onset	2/2	OMIM:602579
4351	MPI	HP:0002243	Protein-losing enteropathy	HP:0040282	ORPHA:79319
4351	MPI	HP:0002243	Protein-losing enteropathy	-	OMIM:602579
4351	MPI	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:79319
4351	MPI	HP:0002240	Hepatomegaly	2/2	OMIM:602579
4351	MPI	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:79319
4351	MPI	HP:0004855	Reduced protein S activity	HP:0040282	ORPHA:79319
4351	MPI	HP:0003642	Type I transferrin isoform profile	-	OMIM:602579
4351	MPI	HP:0005543	Reduced protein C activity	HP:0040282	ORPHA:79319
4351	MPI	HP:0031842	Lymphangiectasis	-	OMIM:602579
4351	MPI	HP:0001977	Abnormal thrombosis	HP:0040282	ORPHA:79319
4351	MPI	HP:0001977	Abnormal thrombosis	-	OMIM:602579
4351	MPI	HP:0001976	Reduced antithrombin III activity	-	OMIM:602579
4351	MPI	HP:0001929	Reduced factor XI activity	HP:0040282	ORPHA:79319
4351	MPI	HP:0001929	Reduced factor XI activity	-	OMIM:602579
4351	MPI	HP:0003073	Hypoalbuminemia	HP:0040281	ORPHA:79319
4351	MPI	HP:0003073	Hypoalbuminemia	-	OMIM:602579
4351	MPI	HP:0000707	Abnormality of the nervous system	-	ORPHA:79319
4351	MPI	HP:0011473	Villous atrophy	1/1	OMIM:602579
4351	MPI	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040282	ORPHA:79319
4351	MPI	HP:0000825	Hyperinsulinemic hypoglycemia	-	OMIM:602579
4351	MPI	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:79319
4351	MPI	HP:0040246	Reduced antithrombin antigen	HP:0040281	ORPHA:79319
4351	MPI	HP:0003256	Abnormality of the coagulation cascade	HP:0040281	ORPHA:79319
4351	MPI	HP:0000969	Edema	HP:0040282	ORPHA:79319
4351	MPI	HP:0000969	Edema	1/2	OMIM:602579
4351	MPI	HP:0001508	Failure to thrive	2/2	OMIM:602579
4351	MPI	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79319
4351	MPI	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040280	ORPHA:79319
4351	MPI	HP:0001892	Abnormal bleeding	-	OMIM:602579
4352	MPL	HP:0025142	Constitutional symptom	HP:0040282	ORPHA:824
4352	MPL	HP:0002488	Acute leukemia	HP:0040283	ORPHA:3318
4352	MPL	HP:0001123	Visual field defect	HP:0040283	ORPHA:71493
4352	MPL	HP:0001279	Syncope	HP:0040283	ORPHA:71493
4352	MPL	HP:0001250	Seizure	HP:0040283	ORPHA:71493
4352	MPL	HP:0001260	Dysarthria	HP:0040283	ORPHA:71493
4352	MPL	HP:0031020	Bone marrow hypercellularity	HP:0040283	ORPHA:824
4352	MPL	HP:0000007	Autosomal recessive inheritance	-	OMIM:604498
4352	MPL	HP:0000006	Autosomal dominant inheritance	-	OMIM:601977
4352	MPL	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:71493
4352	MPL	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:604498
4352	MPL	HP:0002650	Scoliosis	HP:0040282	ORPHA:3319
4352	MPL	HP:0012156	Hemophagocytosis	0/2	OMIM:254450
4352	MPL	HP:0012143	Abnormal megakaryocyte morphology	HP:0040282	ORPHA:824
4352	MPL	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040284	ORPHA:824
4352	MPL	HP:0001442	Typified by somatic mosaicism	-	OMIM:601977
4352	MPL	HP:0001442	Typified by somatic mosaicism	-	OMIM:254450
4352	MPL	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:824
4352	MPL	HP:0001409	Portal hypertension	HP:0040283	ORPHA:824
4352	MPL	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:824
4352	MPL	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:3319
4352	MPL	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:71493
4352	MPL	HP:0002076	Migraine	HP:0040282	ORPHA:3318
4352	MPL	HP:0002039	Anorexia	HP:0040283	ORPHA:824
4352	MPL	HP:0003388	Easy fatigability	HP:0040283	ORPHA:824
4352	MPL	HP:0100576	Amaurosis fugax	HP:0040281	ORPHA:3318
4352	MPL	HP:0011902	Abnormal hemoglobin	HP:0040281	ORPHA:3319
4352	MPL	HP:0011875	Abnormal platelet morphology	HP:0040281	ORPHA:3318
4352	MPL	HP:0003401	Paresthesia	HP:0040282	ORPHA:71493
4352	MPL	HP:0003401	Paresthesia	HP:0040281	ORPHA:3318
4352	MPL	HP:0003593	Infantile onset	2/2	OMIM:254450
4352	MPL	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:824
4352	MPL	HP:0002240	Hepatomegaly	2/2	OMIM:254450
4352	MPL	HP:0004859	Amegakaryocytic thrombocytopenia	-	OMIM:604498
4352	MPL	HP:0100785	Insomnia	HP:0040282	ORPHA:3318
4352	MPL	HP:0100749	Chest pain	HP:0040282	ORPHA:71493
4352	MPL	HP:0100749	Chest pain	HP:0040281	ORPHA:3318
4352	MPL	HP:0011974	Myelofibrosis	2/2	OMIM:254450
4352	MPL	HP:0011974	Myelofibrosis	HP:0040283	ORPHA:3318
4352	MPL	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:71493
4352	MPL	HP:0001028	Hemangioma	HP:0040284	ORPHA:824
4352	MPL	HP:0002321	Vertigo	HP:0040283	ORPHA:71493
4352	MPL	HP:0002321	Vertigo	HP:0040282	ORPHA:3318
4352	MPL	HP:0002315	Headache	HP:0040282	ORPHA:71493
4352	MPL	HP:0002315	Headache	HP:0040282	ORPHA:3318
4352	MPL	HP:0002326	Transient ischemic attack	HP:0040282	ORPHA:71493
4352	MPL	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:3318
4352	MPL	HP:0100659	Abnormal cerebral vascular morphology	HP:0040281	ORPHA:3318
4352	MPL	HP:0032147	Erythromelalgia	HP:0040283	ORPHA:3318
4352	MPL	HP:0004936	Venous thrombosis	HP:0040281	ORPHA:71493
4352	MPL	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:824
4352	MPL	HP:0004936	Venous thrombosis	HP:0040281	ORPHA:3318
4352	MPL	HP:0004950	Peripheral arterial stenosis	HP:0040282	ORPHA:71493
4352	MPL	HP:0005513	Increased megakaryocyte count	HP:0040281	ORPHA:3318
4352	MPL	HP:0005513	Increased megakaryocyte count	-	OMIM:601977
4352	MPL	HP:0005506	Chronic myelogenous leukemia	HP:0040283	ORPHA:71493
4352	MPL	HP:0005548	Megakaryocytopenia	-	OMIM:604498
4352	MPL	HP:0005547	Myeloproliferative disorder	-	OMIM:254450
4352	MPL	HP:0005561	Abnormal bone marrow cell morphology	HP:0040281	ORPHA:824
4352	MPL	HP:0005561	Abnormal bone marrow cell morphology	HP:0040281	ORPHA:3318
4352	MPL	HP:0001977	Abnormal thrombosis	HP:0040283	ORPHA:824
4352	MPL	HP:0001978	Extramedullary hematopoiesis	2/2	OMIM:254450
4352	MPL	HP:0001978	Extramedullary hematopoiesis	HP:0040283	ORPHA:824
4352	MPL	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:824
4352	MPL	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:3318
4352	MPL	HP:0001945	Fever	HP:0040283	ORPHA:824
4352	MPL	HP:0001945	Fever	-	OMIM:254450
4352	MPL	HP:0001903	Anemia	HP:0040282	ORPHA:824
4352	MPL	HP:0001903	Anemia	HP:0040282	ORPHA:3319
4352	MPL	HP:0004322	Short stature	HP:0040282	ORPHA:3319
4352	MPL	HP:0004331	Decreased skull ossification	HP:0040283	ORPHA:3319
4352	MPL	HP:0004326	Cachexia	HP:0040284	ORPHA:824
4352	MPL	HP:0004377	Hematological neoplasm	HP:0040284	ORPHA:824
4352	MPL	HP:0003010	Prolonged bleeding time	HP:0040281	ORPHA:3318
4352	MPL	HP:0004447	Poikilocytosis	HP:0040283	ORPHA:824
4352	MPL	HP:0004420	Arterial thrombosis	HP:0040281	ORPHA:71493
4352	MPL	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:824
4352	MPL	HP:0004420	Arterial thrombosis	HP:0040281	ORPHA:3318
4352	MPL	HP:0000995	Melanocytic nevus	HP:0040282	ORPHA:3319
4352	MPL	HP:0000980	Pallor	HP:0040282	ORPHA:824
4352	MPL	HP:0000980	Pallor	2/2	OMIM:254450
4352	MPL	HP:0000979	Purpura	-	OMIM:254450
4352	MPL	HP:0000979	Purpura	HP:0040283	ORPHA:824
4352	MPL	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:71493
4352	MPL	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:3318
4352	MPL	HP:0000989	Pruritus	HP:0040282	ORPHA:71493
4352	MPL	HP:0000967	Petechiae	HP:0040283	ORPHA:824
4352	MPL	HP:0000280	Coarse facial features	HP:0040282	ORPHA:3319
4352	MPL	HP:0030057	Autoimmune antibody positivity	-	ORPHA:824
4352	MPL	HP:0031388	Megakaryocyte nucleus hyperlobulation	HP:0040281	ORPHA:3318
4352	MPL	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:71493
4352	MPL	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:3318
4352	MPL	HP:0031364	Ecchymosis	HP:0040283	ORPHA:824
4352	MPL	HP:0012378	Fatigue	HP:0040282	ORPHA:824
4352	MPL	HP:0012378	Fatigue	HP:0040281	ORPHA:3318
4352	MPL	HP:0005268	Miscarriage	HP:0040283	ORPHA:71493
4352	MPL	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:3319
4352	MPL	HP:0001658	Myocardial infarction	HP:0040281	ORPHA:3318
4352	MPL	HP:0030157	Flank pain	HP:0040283	ORPHA:824
4352	MPL	HP:0011134	Low-grade fever	HP:0040283	ORPHA:824
4352	MPL	HP:0030243	Hepatic vein thrombosis	HP:0040283	ORPHA:3318
4352	MPL	HP:0000470	Short neck	HP:0040282	ORPHA:3319
4352	MPL	HP:0001744	Splenomegaly	HP:0040282	ORPHA:71493
4352	MPL	HP:0001744	Splenomegaly	HP:0040282	ORPHA:824
4352	MPL	HP:0001744	Splenomegaly	HP:0040282	ORPHA:3318
4352	MPL	HP:0001744	Splenomegaly	2/2	OMIM:254450
4352	MPL	HP:0001824	Weight loss	HP:0040283	ORPHA:71493
4352	MPL	HP:0000505	Visual impairment	HP:0040283	ORPHA:3318
4352	MPL	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:71493
4352	MPL	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:824
4352	MPL	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:3318
4352	MPL	HP:0001894	Thrombocytosis	HP:0040281	ORPHA:71493
4352	MPL	HP:0001894	Thrombocytosis	HP:0040283	ORPHA:824
4352	MPL	HP:0001894	Thrombocytosis	-	OMIM:601977
4352	MPL	HP:0001894	Thrombocytosis	HP:0040281	ORPHA:3318
4352	MPL	HP:0001872	Abnormality of thrombocytes	HP:0040281	ORPHA:3318
4352	MPL	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040282	ORPHA:824
4352	MPL	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:824
4352	MPL	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:3319
4352	MPL	HP:0001873	Thrombocytopenia	-	OMIM:604498
4352	MPL	HP:0001876	Pancytopenia	HP:0040283	ORPHA:824
4352	MPL	HP:0001876	Pancytopenia	-	OMIM:604498
4353	MPO	HP:6000513	Diminished neutrophil myeloperoxidase activity	1/1	OMIM:254600
4353	MPO	HP:0002423	Long-tract sign	-	OMIM:104300
4353	MPO	HP:0002511	Alzheimer disease	-	OMIM:104300
4353	MPO	HP:0000007	Autosomal recessive inheritance	-	OMIM:254600
4353	MPO	HP:0000006	Autosomal dominant inheritance	-	OMIM:104300
4353	MPO	HP:0001300	Parkinsonism	-	OMIM:104300
4353	MPO	HP:0410054	Decreased circulating GABA concentration	-	OMIM:104300
4353	MPO	HP:0002715	Abnormality of the immune system	-	OMIM:254600
4353	MPO	HP:0002185	Neurofibrillary tangles	-	OMIM:104300
4353	MPO	HP:0003581	Adult onset	-	OMIM:104300
4353	MPO	HP:6000375	Reduced neutrophil myeloperoxidase activity	-	OMIM:254600
4353	MPO	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:254600
4353	MPO	HP:0000726	Dementia	-	OMIM:104300
4353	MPO	HP:0001871	Abnormality of blood and blood-forming tissues	-	OMIM:254600
4358	MPV17	HP:0001178	Ulnar claw	-	OMIM:618400
4358	MPV17	HP:0002495	Impaired vibratory sensation	6/6	OMIM:256810
4358	MPV17	HP:0002490	Increased CSF lactate	HP:0040284	OMIM:618400
4358	MPV17	HP:0002490	Increased CSF lactate	1/1	OMIM:256810
4358	MPV17	HP:0002460	Distal muscle weakness	-	OMIM:618400
4358	MPV17	HP:0002460	Distal muscle weakness	5/7	OMIM:256810
4358	MPV17	HP:0007230	Decreased distal sensory nerve action potential	-	OMIM:618400
4358	MPV17	HP:0010864	Intellectual disability, severe	0/4	OMIM:256810
4358	MPV17	HP:0002403	Positive Romberg sign	2/2	OMIM:256810
4358	MPV17	HP:0003700	Generalized amyotrophy	1/1	OMIM:256810
4358	MPV17	HP:0032230	Cytoplasmic antineutrophil antibody positivity	0/1	OMIM:256810
4358	MPV17	HP:0001298	Encephalopathy	3/17	OMIM:256810
4358	MPV17	HP:0001290	Generalized hypotonia	1/1	OMIM:256810
4358	MPV17	HP:0001271	Polyneuropathy	3/3	OMIM:256810
4358	MPV17	HP:0001270	Motor delay	4/8	OMIM:256810
4358	MPV17	HP:0001288	Gait disturbance	-	OMIM:618400
4358	MPV17	HP:0001288	Gait disturbance	1/1	OMIM:256810
4358	MPV17	HP:0001284	Areflexia	-	OMIM:618400
4358	MPV17	HP:0001284	Areflexia	8/9	OMIM:256810
4358	MPV17	HP:0001256	Intellectual disability, mild	1/4	OMIM:256810
4358	MPV17	HP:0001250	Seizure	4/12	OMIM:256810
4358	MPV17	HP:0001252	Hypotonia	21/33	OMIM:256810
4358	MPV17	HP:0001251	Ataxia	-	OMIM:256810
4358	MPV17	HP:0002579	Gastrointestinal dysmotility	1/1	OMIM:256810
4358	MPV17	HP:0001249	Intellectual disability	0/1	OMIM:256810
4358	MPV17	HP:0001265	Hyporeflexia	-	OMIM:618400
4358	MPV17	HP:0001265	Hyporeflexia	4/9	OMIM:256810
4358	MPV17	HP:0001260	Dysarthria	0/1	OMIM:256810
4358	MPV17	HP:0001263	Global developmental delay	19/44	OMIM:256810
4358	MPV17	HP:0002572	Episodic vomiting	6/12	OMIM:256810
4358	MPV17	HP:0007340	Lower limb muscle weakness	8/10	OMIM:256810
4358	MPV17	HP:0002505	Loss of ambulation	2/6	OMIM:256810
4358	MPV17	HP:0001397	Hepatic steatosis	4/11	OMIM:618400
4358	MPV17	HP:0001397	Hepatic steatosis	16/23	OMIM:256810
4358	MPV17	HP:0001396	Cholestasis	13/13	OMIM:256810
4358	MPV17	HP:0001399	Hepatic failure	34/44	OMIM:256810
4358	MPV17	HP:0001394	Cirrhosis	11/32	OMIM:256810
4358	MPV17	HP:0007460	Autoamputation of digits	-	OMIM:256810
4358	MPV17	HP:0006121	Acral ulceration	-	OMIM:256810
4358	MPV17	HP:0002661	Painless fractures due to injury	-	OMIM:256810
4358	MPV17	HP:0001332	Dystonia	11/13	OMIM:256810
4358	MPV17	HP:0002659	Increased susceptibility to fractures	-	OMIM:256810
4358	MPV17	HP:0001324	Muscle weakness	5/9	OMIM:256810
4358	MPV17	HP:0000007	Autosomal recessive inheritance	-	OMIM:256810
4358	MPV17	HP:0000007	Autosomal recessive inheritance	-	OMIM:618400
4358	MPV17	HP:0002650	Scoliosis	2/2	OMIM:256810
4358	MPV17	HP:0001300	Parkinsonism	1/1	OMIM:256810
4358	MPV17	HP:0031141	Increased hepatic echogenicity	2/2	OMIM:256810
4358	MPV17	HP:0005010	Osteomyelitis leading to amputation due to slow healing fractures	-	OMIM:256810
4358	MPV17	HP:0008954	Intrinsic hand muscle atrophy	3/3	OMIM:256810
4358	MPV17	HP:0008936	Axial hypotonia	4/4	OMIM:256810
4358	MPV17	HP:0008944	Distal lower limb amyotrophy	5/5	OMIM:256810
4358	MPV17	HP:0006254	Elevated circulating alpha-fetoprotein concentration	4/6	OMIM:256810
4358	MPV17	HP:0007588	Reticular hyperpigmentation	1/1	OMIM:256810
4358	MPV17	HP:0000121	Nephrocalcinosis	1/4	OMIM:256810
4358	MPV17	HP:0000114	Proximal tubulopathy	3/7	OMIM:256810
4358	MPV17	HP:0001405	Periportal fibrosis	2/2	OMIM:256810
4358	MPV17	HP:0001404	Hepatocellular necrosis	1/6	OMIM:256810
4358	MPV17	HP:0001406	Intrahepatic cholestasis	3/3	OMIM:256810
4358	MPV17	HP:0001403	Macrovesicular hepatic steatosis	3/8	OMIM:256810
4358	MPV17	HP:0001402	Hepatocellular carcinoma	1/6	OMIM:256810
4358	MPV17	HP:0002747	Respiratory insufficiency due to muscle weakness	1/1	OMIM:256810
4358	MPV17	HP:0001414	Microvesicular hepatic steatosis	14/14	OMIM:256810
4358	MPV17	HP:0001413	Micronodular cirrhosis	1/6	OMIM:256810
4358	MPV17	HP:0002020	Gastroesophageal reflux	3/7	OMIM:256810
4358	MPV17	HP:0002019	Constipation	1/1	OMIM:256810
4358	MPV17	HP:0002033	Poor suck	2/2	OMIM:256810
4358	MPV17	HP:0040319	Dark urine	1/2	OMIM:256810
4358	MPV17	HP:0003326	Myalgia	1/1	OMIM:256810
4358	MPV17	HP:0002014	Diarrhea	14/18	OMIM:256810
4358	MPV17	HP:0002015	Dysphagia	0/1	OMIM:256810
4358	MPV17	HP:0002013	Vomiting	15/30	OMIM:256810
4358	MPV17	HP:0003323	Progressive muscle weakness	1/6	OMIM:256810
4358	MPV17	HP:0005978	Type II diabetes mellitus	1/1	OMIM:256810
4358	MPV17	HP:0002098	Respiratory distress	1/6	OMIM:256810
4358	MPV17	HP:0100560	Upper limb asymmetry	1/1	OMIM:256810
4358	MPV17	HP:0100559	Lower limb asymmetry	1/1	OMIM:256810
4358	MPV17	HP:0030948	Elevated gamma-glutamyltransferase level	7/12	OMIM:256810
4358	MPV17	HP:0003376	Steppage gait	1/1	OMIM:256810
4358	MPV17	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2/2	OMIM:256810
4358	MPV17	HP:0008180	Mildly elevated creatine kinase	-	OMIM:618400
4358	MPV17	HP:0008163	Decreased circulating cortisol level	1/17	OMIM:256810
4358	MPV17	HP:0008151	Prolonged prothrombin time	13/15	OMIM:256810
4358	MPV17	HP:0003477	Peripheral axonal neuropathy	10/11	OMIM:618400
4358	MPV17	HP:0003477	Peripheral axonal neuropathy	4/4	OMIM:256810
4358	MPV17	HP:0002141	Gait imbalance	1/1	OMIM:256810
4358	MPV17	HP:0002151	Increased circulating lactate concentration	29/40	OMIM:256810
4358	MPV17	HP:0002136	Broad-based gait	1/6	OMIM:256810
4358	MPV17	HP:0003458	EMG: myopathic abnormalities	1/1	OMIM:256810
4358	MPV17	HP:0003444	EMG: chronic denervation signs	-	OMIM:618400
4358	MPV17	HP:0003438	Absent Achilles reflex	3/3	OMIM:256810
4358	MPV17	HP:0011924	Decreased activity of mitochondrial complex III	1/1	OMIM:256810
4358	MPV17	HP:0011923	Decreased activity of mitochondrial complex I	5/8	OMIM:256810
4358	MPV17	HP:0011900	Hypofibrinogenemia	1/1	OMIM:256810
4358	MPV17	HP:0002188	Delayed CNS myelination	1/4	OMIM:256810
4358	MPV17	HP:0002194	Delayed gross motor development	1/3	OMIM:256810
4358	MPV17	HP:0003493	Antinuclear antibody positivity	0/1	OMIM:256810
4358	MPV17	HP:0002172	Postural instability	1/1	OMIM:256810
4358	MPV17	HP:0010547	Muscle flaccidity	1/1	OMIM:256810
4358	MPV17	HP:0003593	Infantile onset	34/48	OMIM:256810
4358	MPV17	HP:0003577	Congenital onset	6/17	OMIM:256810
4358	MPV17	HP:0002240	Hepatomegaly	24/35	OMIM:256810
4358	MPV17	HP:0003546	Exercise intolerance	1/1	OMIM:256810
4358	MPV17	HP:0003542	Increased circulating pyruvate concentration	1/3	OMIM:256810
4358	MPV17	HP:0002299	Brittle hair	1/1	OMIM:256810
4358	MPV17	HP:0007021	Pain insensitivity	-	OMIM:256810
4358	MPV17	HP:0008347	Decreased activity of mitochondrial complex IV	6/8	OMIM:256810
4358	MPV17	HP:0011968	Feeding difficulties	7/19	OMIM:256810
4358	MPV17	HP:0002380	Fasciculations	2/3	OMIM:256810
4358	MPV17	HP:0003693	Distal amyotrophy	-	OMIM:618400
4358	MPV17	HP:0003689	Multiple mitochondrial DNA deletions	2/2	OMIM:256810
4358	MPV17	HP:0002376	Developmental regression	1/1	OMIM:256810
4358	MPV17	HP:0003676	Progressive	-	OMIM:618400
4358	MPV17	HP:0003676	Progressive	-	OMIM:256810
4358	MPV17	HP:0002342	Intellectual disability, moderate	0/4	OMIM:256810
4358	MPV17	HP:0002354	Memory impairment	1/1	OMIM:256810
4358	MPV17	HP:0003648	Lacticaciduria	1/1	OMIM:256810
4358	MPV17	HP:0002317	Unsteady gait	1/1	OMIM:256810
4358	MPV17	HP:0003645	Prolonged partial thromboplastin time	7/7	OMIM:256810
4358	MPV17	HP:0009830	Peripheral neuropathy	8/29	OMIM:256810
4358	MPV17	HP:0001081	Cholelithiasis	1/1	OMIM:256810
4358	MPV17	HP:0007141	Sensorimotor neuropathy	-	OMIM:256810
4358	MPV17	HP:0003623	Neonatal onset	8/17	OMIM:256810
4358	MPV17	HP:0002311	Incoordination	1/1	OMIM:256810
4358	MPV17	HP:0003621	Juvenile onset	5/21	OMIM:256810
4358	MPV17	HP:0003621	Juvenile onset	-	OMIM:618400
4358	MPV17	HP:0007178	Motor polyneuropathy	1/4	OMIM:256810
4358	MPV17	HP:0006858	Impaired distal proprioception	6/6	OMIM:256810
4358	MPV17	HP:0009072	Decreased Achilles reflex	1/1	OMIM:256810
4358	MPV17	HP:0009073	Progressive proximal muscle weakness	1/1	OMIM:256810
4358	MPV17	HP:0000639	Nystagmus	12/14	OMIM:256810
4358	MPV17	HP:0001944	Dehydration	3/3	OMIM:256810
4358	MPV17	HP:0001943	Hypoglycemia	25/45	OMIM:256810
4358	MPV17	HP:0001942	Metabolic acidosis	5/6	OMIM:256810
4358	MPV17	HP:0009027	Foot dorsiflexor weakness	-	OMIM:618400
4358	MPV17	HP:0009027	Foot dorsiflexor weakness	2/2	OMIM:256810
4358	MPV17	HP:0009005	Weakness of the intrinsic hand muscles	1/1	OMIM:256810
4358	MPV17	HP:0001988	Recurrent hypoglycemia	2/6	OMIM:256810
4358	MPV17	HP:0001987	Hyperammonemia	4/5	OMIM:256810
4358	MPV17	HP:0000666	Horizontal nystagmus	1/4	OMIM:256810
4358	MPV17	HP:0004322	Short stature	-	OMIM:256810
4358	MPV17	HP:0006994	Diffuse leukoencephalopathy	2/6	OMIM:256810
4358	MPV17	HP:0031956	Elevated circulating aspartate aminotransferase concentration	21/24	OMIM:256810
4358	MPV17	HP:0031964	Elevated circulating alanine aminotransferase concentration	21/24	OMIM:256810
4358	MPV17	HP:0006970	Periventricular leukomalacia	3/11	OMIM:256810
4358	MPV17	HP:0006937	Impaired distal tactile sensation	-	OMIM:618400
4358	MPV17	HP:0006937	Impaired distal tactile sensation	10/12	OMIM:256810
4358	MPV17	HP:0003073	Hypoalbuminemia	3/4	OMIM:256810
4358	MPV17	HP:0012707	Elevated brain lactate level by MRS	1/1	OMIM:256810
4358	MPV17	HP:0000716	Depression	1/1	OMIM:256810
4358	MPV17	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	9/12	OMIM:256810
4358	MPV17	HP:0011463	Childhood onset	4/23	OMIM:256810
4358	MPV17	HP:0011462	Young adult onset	3/3	OMIM:256810
4358	MPV17	HP:0000787	Nephrolithiasis	1/1	OMIM:256810
4358	MPV17	HP:0034295	Reduced cerebral white matter volume	1/7	OMIM:256810
4358	MPV17	HP:0003155	Elevated circulating alkaline phosphatase concentration	4/4	OMIM:256810
4358	MPV17	HP:0003128	Lactic acidosis	21/23	OMIM:256810
4358	MPV17	HP:0000869	Secondary amenorrhea	1/1	OMIM:256810
4358	MPV17	HP:0012804	Corneal ulceration	2/6	OMIM:256810
4358	MPV17	HP:0000829	Hypoparathyroidism	3/24	OMIM:256810
4358	MPV17	HP:0000821	Hypothyroidism	1/17	OMIM:256810
4358	MPV17	HP:0003231	Hypertyrosinemia	4/4	OMIM:256810
4358	MPV17	HP:0030890	Hyperintensity of cerebral white matter on MRI	5/7	OMIM:256810
4358	MPV17	HP:0003202	Skeletal muscle atrophy	1/6	OMIM:256810
4358	MPV17	HP:0003200	Ragged-red muscle fibers	0/4	OMIM:256810
4358	MPV17	HP:0033051	Impaired executive functioning	1/3	OMIM:256810
4358	MPV17	HP:0034397	Claw toe deformity	1/1	OMIM:256810
4358	MPV17	HP:0003270	Abdominal distention	2/7	OMIM:256810
4358	MPV17	HP:0003281	Increased circulating ferritin concentration	2/2	OMIM:256810
4358	MPV17	HP:0003256	Abnormality of the coagulation cascade	4/19	OMIM:256810
4358	MPV17	HP:0034323	Reduced circulating growth hormone concentration	1/17	OMIM:256810
4358	MPV17	HP:0000952	Jaundice	23/35	OMIM:256810
4358	MPV17	HP:0040189	Scaling skin	1/1	OMIM:256810
4358	MPV17	HP:0030059	Mitochondrial depletion	7/7	OMIM:256810
4358	MPV17	HP:0000252	Microcephaly	4/26	OMIM:256810
4358	MPV17	HP:0032653	Elevated lactate:pyruvate ratio	5/6	OMIM:256810
4358	MPV17	HP:0012202	Increased serum bile acid concentration	2/2	OMIM:256810
4358	MPV17	HP:0001541	Ascites	4/12	OMIM:256810
4358	MPV17	HP:0001508	Failure to thrive	25/46	OMIM:256810
4358	MPV17	HP:0031374	Ankle weakness	2/2	OMIM:256810
4358	MPV17	HP:0001518	Small for gestational age	1/10	OMIM:256810
4358	MPV17	HP:0001510	Growth delay	3/6	OMIM:256810
4358	MPV17	HP:0012389	Appendicular hypotonia	1/1	OMIM:256810
4358	MPV17	HP:0006581	Depletion of mitochondrial DNA in liver	15/15	OMIM:256810
4358	MPV17	HP:0006582	Reye syndrome-like episodes	-	OMIM:256810
4358	MPV17	HP:0006579	Prolonged neonatal jaundice	-	OMIM:256810
4358	MPV17	HP:0006554	Acute hepatic failure	11/11	OMIM:256810
4358	MPV17	HP:0002936	Distal sensory impairment	3/6	OMIM:256810
4358	MPV17	HP:0001612	Weak cry	1/1	OMIM:256810
4358	MPV17	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:618400
4358	MPV17	HP:0002922	Increased CSF protein concentration	1/1	OMIM:256810
4358	MPV17	HP:0002908	Conjugated hyperbilirubinemia	9/12	OMIM:256810
4358	MPV17	HP:0002904	Hyperbilirubinemia	1/1	OMIM:256810
4358	MPV17	HP:0000365	Hearing impairment	1/1	OMIM:256810
4358	MPV17	HP:0001662	Bradycardia	1/1	OMIM:256810
4358	MPV17	HP:0001733	Pancreatitis	2/7	OMIM:256810
4358	MPV17	HP:0000495	Recurrent corneal erosions	-	OMIM:256810
4358	MPV17	HP:0001763	Pes planus	1/1	OMIM:256810
4358	MPV17	HP:0001765	Hammertoe	-	OMIM:618400
4358	MPV17	HP:0001765	Hammertoe	1/1	OMIM:256810
4358	MPV17	HP:0001744	Splenomegaly	3/7	OMIM:256810
4358	MPV17	HP:0000431	Wide nasal bridge	1/4	OMIM:256810
4358	MPV17	HP:0001761	Pes cavus	-	OMIM:618400
4358	MPV17	HP:0001761	Pes cavus	0/1	OMIM:256810
4358	MPV17	HP:0000508	Ptosis	1/1	OMIM:256810
4358	MPV17	HP:0000597	Ophthalmoparesis	1/2	OMIM:256810
4358	MPV17	HP:0000580	Pigmentary retinopathy	2/2	OMIM:256810
4358	MPV17	HP:0012573	Global proximal tubulopathy	1/1	OMIM:256810
4358	MPV17	HP:0000559	Corneal scarring	2/3	OMIM:256810
4358	MPV17	HP:0000556	Retinal dystrophy	1/1	OMIM:256810
4359	MPZ	HP:0001178	Ulnar claw	-	OMIM:118200
4359	MPZ	HP:0001178	Ulnar claw	-	OMIM:145900
4359	MPZ	HP:0001171	Split hand	-	OMIM:118200
4359	MPZ	HP:0001171	Split hand	-	OMIM:145900
4359	MPZ	HP:0002495	Impaired vibratory sensation	HP:0040282	ORPHA:3115
4359	MPZ	HP:0002460	Distal muscle weakness	-	OMIM:180800
4359	MPZ	HP:0002460	Distal muscle weakness	20/20	OMIM:118200
4359	MPZ	HP:0002460	Distal muscle weakness	-	OMIM:145900
4359	MPZ	HP:0002460	Distal muscle weakness	-	OMIM:607677
4359	MPZ	HP:0002460	Distal muscle weakness	-	OMIM:607791
4359	MPZ	HP:0002460	Distal muscle weakness	-	OMIM:607736
4359	MPZ	HP:0007328	Impaired pain sensation	HP:0040282	ORPHA:3115
4359	MPZ	HP:0010871	Sensory ataxia	1/1	OMIM:618184
4359	MPZ	HP:0010871	Sensory ataxia	1/1	OMIM:145900
4359	MPZ	HP:0002421	Poor head control	-	OMIM:618184
4359	MPZ	HP:0003701	Proximal muscle weakness	1/1	OMIM:145900
4359	MPZ	HP:0003712	Skeletal muscle hypertrophy	HP:0040282	ORPHA:101082
4359	MPZ	HP:0001270	Motor delay	HP:0040283	ORPHA:101082
4359	MPZ	HP:0001270	Motor delay	-	OMIM:180800
4359	MPZ	HP:0001270	Motor delay	3/3	OMIM:618184
4359	MPZ	HP:0001270	Motor delay	1/1	OMIM:145900
4359	MPZ	HP:0001288	Gait disturbance	HP:0040282	ORPHA:3115
4359	MPZ	HP:0001284	Areflexia	1/1	OMIM:618184
4359	MPZ	HP:0001284	Areflexia	-	OMIM:180800
4359	MPZ	HP:0001284	Areflexia	HP:0040282	ORPHA:3115
4359	MPZ	HP:0001284	Areflexia	HP:0040282	ORPHA:101082
4359	MPZ	HP:0001284	Areflexia	30/30	OMIM:118200
4359	MPZ	HP:0001284	Areflexia	1/1	OMIM:145900
4359	MPZ	HP:0001284	Areflexia	-	OMIM:607677
4359	MPZ	HP:0001284	Areflexia	-	OMIM:607791
4359	MPZ	HP:0001284	Areflexia	-	OMIM:607736
4359	MPZ	HP:0001252	Hypotonia	2/2	OMIM:618184
4359	MPZ	HP:0001252	Hypotonia	-	OMIM:145900
4359	MPZ	HP:0001265	Hyporeflexia	1/1	OMIM:618184
4359	MPZ	HP:0001265	Hyporeflexia	-	OMIM:180800
4359	MPZ	HP:0001265	Hyporeflexia	-	OMIM:118200
4359	MPZ	HP:0001265	Hyporeflexia	-	OMIM:145900
4359	MPZ	HP:0001265	Hyporeflexia	-	OMIM:607677
4359	MPZ	HP:0001265	Hyporeflexia	-	OMIM:607791
4359	MPZ	HP:0001265	Hyporeflexia	-	OMIM:607736
4359	MPZ	HP:0007351	Upper limb postural tremor	-	OMIM:180800
4359	MPZ	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:3115
4359	MPZ	HP:0002540	Inability to walk	-	OMIM:618184
4359	MPZ	HP:0012074	Tonic pupil	-	OMIM:118200
4359	MPZ	HP:0025335	Delayed ability to stand	1/1	OMIM:618184
4359	MPZ	HP:0001349	Facial diplegia	1/1	OMIM:618184
4359	MPZ	HP:0001324	Muscle weakness	HP:0040281	ORPHA:101082
4359	MPZ	HP:0001324	Muscle weakness	1/1	OMIM:618184
4359	MPZ	HP:0000007	Autosomal recessive inheritance	-	OMIM:145900
4359	MPZ	HP:0000006	Autosomal dominant inheritance	-	OMIM:180800
4359	MPZ	HP:0000006	Autosomal dominant inheritance	-	OMIM:607677
4359	MPZ	HP:0000006	Autosomal dominant inheritance	-	OMIM:618184
4359	MPZ	HP:0000006	Autosomal dominant inheritance	-	OMIM:118200
4359	MPZ	HP:0000006	Autosomal dominant inheritance	-	OMIM:145900
4359	MPZ	HP:0000006	Autosomal dominant inheritance	-	OMIM:607791
4359	MPZ	HP:0000006	Autosomal dominant inheritance	-	OMIM:607736
4359	MPZ	HP:0001308	Tongue fasciculations	1/1	OMIM:145900
4359	MPZ	HP:0002650	Scoliosis	HP:0040282	ORPHA:101082
4359	MPZ	HP:0002650	Scoliosis	1/1	OMIM:618184
4359	MPZ	HP:0002650	Scoliosis	HP:0040282	ORPHA:3115
4359	MPZ	HP:0002650	Scoliosis	1/1	OMIM:145900
4359	MPZ	HP:0008954	Intrinsic hand muscle atrophy	HP:0040283	ORPHA:3115
4359	MPZ	HP:0002751	Kyphoscoliosis	-	OMIM:180800
4359	MPZ	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:3115
4359	MPZ	HP:0002751	Kyphoscoliosis	HP:0040282	OMIM:118200
4359	MPZ	HP:0002751	Kyphoscoliosis	-	OMIM:145900
4359	MPZ	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:618184
4359	MPZ	HP:0002715	Abnormality of the immune system	-	OMIM:180800
4359	MPZ	HP:0002015	Dysphagia	-	OMIM:607736
4359	MPZ	HP:0002066	Gait ataxia	-	OMIM:180800
4359	MPZ	HP:0002066	Gait ataxia	HP:0040282	ORPHA:3115
4359	MPZ	HP:0002070	Limb ataxia	HP:0040282	ORPHA:3115
4359	MPZ	HP:0003378	Axonal degeneration/regeneration	-	OMIM:607736
4359	MPZ	HP:0003378	Axonal degeneration/regeneration	-	OMIM:607677
4359	MPZ	HP:0003378	Axonal degeneration/regeneration	-	OMIM:607791
4359	MPZ	HP:0003376	Steppage gait	-	OMIM:607677
4359	MPZ	HP:0003376	Steppage gait	-	OMIM:118200
4359	MPZ	HP:0003376	Steppage gait	-	OMIM:607736
4359	MPZ	HP:0003376	Steppage gait	-	OMIM:145900
4359	MPZ	HP:0003383	Onion bulb formation	2/2	OMIM:618184
4359	MPZ	HP:0003383	Onion bulb formation	-	OMIM:118200
4359	MPZ	HP:0003383	Onion bulb formation	-	OMIM:180800
4359	MPZ	HP:0003383	Onion bulb formation	1/1	OMIM:145900
4359	MPZ	HP:0003382	Hypertrophic nerve changes	-	OMIM:118200
4359	MPZ	HP:0003382	Hypertrophic nerve changes	-	OMIM:145900
4359	MPZ	HP:0003382	Hypertrophic nerve changes	-	OMIM:180800
4359	MPZ	HP:0003380	Decreased number of peripheral myelinated nerve fibers	1/1	OMIM:618184
4359	MPZ	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:118200
4359	MPZ	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:180800
4359	MPZ	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:607677
4359	MPZ	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:145900
4359	MPZ	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:101082
4359	MPZ	HP:0003474	Somatic sensory dysfunction	HP:0040282	ORPHA:3115
4359	MPZ	HP:0003474	Somatic sensory dysfunction	HP:0040283	ORPHA:101082
4359	MPZ	HP:0003469	Peripheral dysmyelination	HP:0040282	ORPHA:101082
4359	MPZ	HP:0003487	Babinski sign	HP:0040283	ORPHA:3115
4359	MPZ	HP:0003484	Upper limb muscle weakness	-	OMIM:607677
4359	MPZ	HP:0003484	Upper limb muscle weakness	-	OMIM:607791
4359	MPZ	HP:0003481	Segmental peripheral demyelination/remyelination	1/1	OMIM:145900
4359	MPZ	HP:0003481	Segmental peripheral demyelination/remyelination	-	OMIM:607791
4359	MPZ	HP:0003481	Segmental peripheral demyelination/remyelination	-	OMIM:180800
4359	MPZ	HP:0003448	Decreased sensory nerve conduction velocity	1/1	OMIM:145900
4359	MPZ	HP:0003449	Cold-induced muscle cramps	-	OMIM:118200
4359	MPZ	HP:0002136	Broad-based gait	1/1	OMIM:145900
4359	MPZ	HP:0003431	Decreased motor nerve conduction velocity	1/1	OMIM:618184
4359	MPZ	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:180800
4359	MPZ	HP:0003431	Decreased motor nerve conduction velocity	20/20	OMIM:118200
4359	MPZ	HP:0003431	Decreased motor nerve conduction velocity	1/1	OMIM:145900
4359	MPZ	HP:0003431	Decreased motor nerve conduction velocity	HP:0040282	ORPHA:3115
4359	MPZ	HP:0002174	Postural tremor	HP:0040282	ORPHA:3115
4359	MPZ	HP:0003596	Middle age onset	-	OMIM:607736
4359	MPZ	HP:0003593	Infantile onset	2/2	OMIM:618184
4359	MPZ	HP:0003593	Infantile onset	1/1	OMIM:145900
4359	MPZ	HP:0003577	Congenital onset	1/1	OMIM:618184
4359	MPZ	HP:0003587	Insidious onset	-	OMIM:118200
4359	MPZ	HP:0033362	Recurrent coughing spasms	1/1	OMIM:607736
4359	MPZ	HP:0003693	Distal amyotrophy	1/1	OMIM:618184
4359	MPZ	HP:0003693	Distal amyotrophy	-	OMIM:180800
4359	MPZ	HP:0003693	Distal amyotrophy	-	OMIM:607677
4359	MPZ	HP:0003693	Distal amyotrophy	-	OMIM:607791
4359	MPZ	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:3115
4359	MPZ	HP:0003693	Distal amyotrophy	30/30	OMIM:118200
4359	MPZ	HP:0003693	Distal amyotrophy	-	OMIM:607736
4359	MPZ	HP:0003693	Distal amyotrophy	-	OMIM:145900
4359	MPZ	HP:0003690	Limb muscle weakness	-	OMIM:118200
4359	MPZ	HP:0002359	Frequent falls	HP:0040283	ORPHA:3115
4359	MPZ	HP:0002375	Hypokinesia	-	OMIM:618184
4359	MPZ	HP:0002345	Action tremor	-	OMIM:180800
4359	MPZ	HP:0003677	Slowly progressive	-	OMIM:180800
4359	MPZ	HP:0003677	Slowly progressive	-	OMIM:118200
4359	MPZ	HP:0002317	Unsteady gait	HP:0040282	ORPHA:3115
4359	MPZ	HP:0010829	Impaired temperature sensation	HP:0040282	ORPHA:3115
4359	MPZ	HP:0009830	Peripheral neuropathy	-	OMIM:118200
4359	MPZ	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:3115
4359	MPZ	HP:0007131	Acute demyelinating polyneuropathy	HP:0040282	ORPHA:3115
4359	MPZ	HP:0002312	Clumsiness	HP:0040282	ORPHA:3115
4359	MPZ	HP:0003621	Juvenile onset	-	OMIM:180800
4359	MPZ	HP:0003621	Juvenile onset	-	OMIM:118200
4359	MPZ	HP:0006829	Severe muscular hypotonia	-	OMIM:618184
4359	MPZ	HP:0006886	Impaired distal vibration sensation	1/1	OMIM:145900
4359	MPZ	HP:0000639	Nystagmus	HP:0040282	ORPHA:3115
4359	MPZ	HP:0000639	Nystagmus	HP:0040283	OMIM:145900
4359	MPZ	HP:0000615	Abnormal pupil morphology	HP:0040282	ORPHA:101082
4359	MPZ	HP:0009053	Distal lower limb muscle weakness	1/1	OMIM:145900
4359	MPZ	HP:0009027	Foot dorsiflexor weakness	-	OMIM:118200
4359	MPZ	HP:0009027	Foot dorsiflexor weakness	-	OMIM:607736
4359	MPZ	HP:0009027	Foot dorsiflexor weakness	-	OMIM:145900
4359	MPZ	HP:0004336	Myelin outfoldings	-	OMIM:118200
4359	MPZ	HP:0031936	Delayed ability to walk	1/1	OMIM:618184
4359	MPZ	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:101082
4359	MPZ	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:101082
4359	MPZ	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:101082
4359	MPZ	HP:0003202	Skeletal muscle atrophy	-	OMIM:618184
4359	MPZ	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:3115
4359	MPZ	HP:0001558	Decreased fetal movement	-	OMIM:618184
4359	MPZ	HP:0002857	Genu valgum	HP:0040283	ORPHA:3115
4359	MPZ	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040283	ORPHA:3115
4359	MPZ	HP:0011096	Peripheral demyelination	HP:0040282	OMIM:118200
4359	MPZ	HP:0011096	Peripheral demyelination	-	OMIM:607736
4359	MPZ	HP:0011096	Peripheral demyelination	1/1	OMIM:145900
4359	MPZ	HP:0002936	Distal sensory impairment	-	OMIM:180800
4359	MPZ	HP:0002936	Distal sensory impairment	-	OMIM:607677
4359	MPZ	HP:0002936	Distal sensory impairment	-	OMIM:607791
4359	MPZ	HP:0002936	Distal sensory impairment	20/20	OMIM:118200
4359	MPZ	HP:0002936	Distal sensory impairment	-	OMIM:607736
4359	MPZ	HP:0002936	Distal sensory impairment	-	OMIM:145900
4359	MPZ	HP:0002922	Increased CSF protein concentration	-	OMIM:145900
4359	MPZ	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:101082
4359	MPZ	HP:0000365	Hearing impairment	HP:0040282	ORPHA:101082
4359	MPZ	HP:0030175	Myelin tomacula	1/1	OMIM:145900
4359	MPZ	HP:0032988	Persistent head lag	1/1	OMIM:618184
4359	MPZ	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:607736
4359	MPZ	HP:0000407	Sensorineural hearing impairment	-	OMIM:607736
4359	MPZ	HP:0030211	Slow pupillary light response	-	OMIM:607736
4359	MPZ	HP:0001763	Pes planus	1/1	OMIM:618184
4359	MPZ	HP:0001763	Pes planus	1/1	OMIM:145900
4359	MPZ	HP:0001765	Hammertoe	-	OMIM:180800
4359	MPZ	HP:0001765	Hammertoe	-	OMIM:118200
4359	MPZ	HP:0001765	Hammertoe	-	OMIM:145900
4359	MPZ	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:3115
4359	MPZ	HP:0001761	Pes cavus	-	OMIM:180800
4359	MPZ	HP:0001761	Pes cavus	HP:0040282	ORPHA:3115
4359	MPZ	HP:0001761	Pes cavus	20/20	OMIM:118200
4359	MPZ	HP:0001761	Pes cavus	-	OMIM:145900
4359	MPZ	HP:0001761	Pes cavus	-	OMIM:607677
4359	MPZ	HP:0001761	Pes cavus	-	OMIM:607736
4361	MRE11	HP:0100953	Enlarged interhemispheric fissure	HP:0040282	ORPHA:251347
4361	MRE11	HP:0007286	Horizontal jerk nystagmus	1/2	OMIM:604391
4361	MRE11	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:251347
4361	MRE11	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:251347
4361	MRE11	HP:0001272	Cerebellar atrophy	-	OMIM:604391
4361	MRE11	HP:0001252	Hypotonia	1/2	OMIM:604391
4361	MRE11	HP:0001251	Ataxia	HP:0040281	ORPHA:251347
4361	MRE11	HP:0001251	Ataxia	2/2	OMIM:604391
4361	MRE11	HP:0001265	Hyporeflexia	-	OMIM:604391
4361	MRE11	HP:0001266	Choreoathetosis	1/2	OMIM:604391
4361	MRE11	HP:0001260	Dysarthria	HP:0040282	ORPHA:251347
4361	MRE11	HP:0001260	Dysarthria	2/2	OMIM:604391
4361	MRE11	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:251347
4361	MRE11	HP:0001332	Dystonia	HP:0040282	ORPHA:251347
4361	MRE11	HP:0001332	Dystonia	2/2	OMIM:604391
4361	MRE11	HP:0000007	Autosomal recessive inheritance	-	OMIM:604391
4361	MRE11	HP:0001336	Myoclonus	HP:0040283	ORPHA:251347
4361	MRE11	HP:0001310	Dysmetria	1/2	OMIM:604391
4361	MRE11	HP:0001310	Dysmetria	HP:0040282	ORPHA:251347
4361	MRE11	HP:0001320	Cerebellar vermis hypoplasia	HP:0040282	ORPHA:251347
4361	MRE11	HP:0001315	Reduced tendon reflexes	1/2	OMIM:604391
4361	MRE11	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:251347
4361	MRE11	HP:0012125	Prostate cancer	HP:0040283	ORPHA:145
4361	MRE11	HP:0002080	Intention tremor	HP:0040282	ORPHA:251347
4361	MRE11	HP:0002066	Gait ataxia	1/2	OMIM:604391
4361	MRE11	HP:0002066	Gait ataxia	HP:0040282	ORPHA:251347
4361	MRE11	HP:0002061	Lower limb spasticity	-	OMIM:604391
4361	MRE11	HP:0002075	Dysdiadochokinesis	HP:0040283	ORPHA:251347
4361	MRE11	HP:0002075	Dysdiadochokinesis	-	OMIM:604391
4361	MRE11	HP:0002072	Chorea	-	OMIM:604391
4361	MRE11	HP:0002072	Chorea	HP:0040282	ORPHA:251347
4361	MRE11	HP:0003438	Absent Achilles reflex	HP:0040282	ORPHA:251347
4361	MRE11	HP:0003438	Absent Achilles reflex	1/2	OMIM:604391
4361	MRE11	HP:0002198	Dilated fourth ventricle	HP:0040282	ORPHA:251347
4361	MRE11	HP:0010544	Vertical nystagmus	HP:0040283	ORPHA:251347
4361	MRE11	HP:0003693	Distal amyotrophy	-	OMIM:604391
4361	MRE11	HP:0002359	Frequent falls	-	OMIM:604391
4361	MRE11	HP:0002359	Frequent falls	HP:0040283	ORPHA:251347
4361	MRE11	HP:0003676	Progressive	-	OMIM:604391
4361	MRE11	HP:0001009	Telangiectasia	0/2	OMIM:604391
4361	MRE11	HP:0002317	Unsteady gait	2/2	OMIM:604391
4361	MRE11	HP:0100615	Ovarian neoplasm	HP:0040281	ORPHA:145
4361	MRE11	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:251347
4361	MRE11	HP:0002310	Orofacial dyskinesia	HP:0040282	ORPHA:251347
4361	MRE11	HP:0002307	Drooling	HP:0040283	ORPHA:251347
4361	MRE11	HP:0003621	Juvenile onset	1/2	OMIM:604391
4361	MRE11	HP:0006801	Hyperactive deep tendon reflexes	HP:0040283	ORPHA:251347
4361	MRE11	HP:0000640	Gaze-evoked nystagmus	HP:0040283	ORPHA:251347
4361	MRE11	HP:0000640	Gaze-evoked nystagmus	-	OMIM:604391
4361	MRE11	HP:0000641	Dysmetric saccades	HP:0040283	ORPHA:251347
4361	MRE11	HP:0000617	Abnormality of ocular smooth pursuit	HP:0040283	ORPHA:251347
4361	MRE11	HP:0000657	Oculomotor apraxia	2/2	OMIM:604391
4361	MRE11	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:251347
4361	MRE11	HP:0004322	Short stature	HP:0040284	ORPHA:251347
4361	MRE11	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:145
4361	MRE11	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:251347
4361	MRE11	HP:0000750	Delayed speech and language development	1/2	OMIM:604391
4361	MRE11	HP:0011463	Childhood onset	1/2	OMIM:604391
4361	MRE11	HP:0000815	Hypergonadotropic hypogonadism	HP:0040283	ORPHA:251347
4361	MRE11	HP:0040010	Small posterior fossa	HP:0040283	ORPHA:251347
4361	MRE11	HP:0000298	Mask-like facies	HP:0040282	ORPHA:251347
4361	MRE11	HP:0007772	Impaired smooth pursuit	-	OMIM:604391
4361	MRE11	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:145
4361	MRE11	HP:0002861	Melanoma	HP:0040283	ORPHA:145
4361	MRE11	HP:0011027	Abnormal fallopian tube morphology	HP:0040281	ORPHA:145
4361	MRE11	HP:0011133	Increased sensitivity to ionizing radiation	-	OMIM:604391
4361	MRE11	HP:0001761	Pes cavus	HP:0040283	ORPHA:251347
4361	MRE11	HP:0030406	Primary peritoneal carcinoma	HP:0040281	ORPHA:145
4361	MRE11	HP:0000514	Slow saccadic eye movements	HP:0040282	ORPHA:251347
4361	MRE11	HP:0000571	Hypometric saccades	-	OMIM:604391
4363	ABCC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618915
4363	ABCC1	HP:0003581	Adult onset	13/13	OMIM:618915
4363	ABCC1	HP:0011390	Abnormal inner ear morphology	0/13	OMIM:618915
4363	ABCC1	HP:0000360	Tinnitus	0/13	OMIM:618915
4363	ABCC1	HP:0000407	Sensorineural hearing impairment	13/13	OMIM:618915
4436	MSH2	HP:0001123	Visual field defect	HP:0040283	ORPHA:144
4436	MSH2	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:144
4436	MSH2	HP:0001276	Hypertonia	HP:0040282	ORPHA:144
4436	MSH2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:144
4436	MSH2	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:144
4436	MSH2	HP:0001250	Seizure	HP:0040282	ORPHA:144
4436	MSH2	HP:0001252	Hypotonia	HP:0040282	ORPHA:144
4436	MSH2	HP:0001260	Dysarthria	HP:0040283	ORPHA:144
4436	MSH2	HP:0002576	Intussusception	HP:0040283	OMIM:174900
4436	MSH2	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
4436	MSH2	HP:0001217	Clubbing	HP:0040283	OMIM:174900
4436	MSH2	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:144
4436	MSH2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:144
4436	MSH2	HP:0007565	Multiple cafe-au-lait spots	-	OMIM:619096
4436	MSH2	HP:0002671	Basal cell carcinoma	-	OMIM:158320
4436	MSH2	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:144
4436	MSH2	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
4436	MSH2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619096
4436	MSH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
4436	MSH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:120435
4436	MSH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:158320
4436	MSH2	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:144
4436	MSH2	HP:0012174	Glioblastoma multiforme	-	OMIM:619096
4436	MSH2	HP:0012118	Laryngeal carcinoma	-	OMIM:158320
4436	MSH2	HP:0012118	Laryngeal carcinoma	HP:0040283	ORPHA:144
4436	MSH2	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:144
4436	MSH2	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:144
4436	MSH2	HP:0002024	Malabsorption	HP:0040281	ORPHA:144
4436	MSH2	HP:0002019	Constipation	HP:0040281	ORPHA:144
4436	MSH2	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:144
4436	MSH2	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
4436	MSH2	HP:0002027	Abdominal pain	HP:0040281	ORPHA:144
4436	MSH2	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
4436	MSH2	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
4436	MSH2	HP:0002076	Migraine	HP:0040282	ORPHA:144
4436	MSH2	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:144
4436	MSH2	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:144
4436	MSH2	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:144
4436	MSH2	HP:0010526	Dysgraphia	HP:0040283	ORPHA:144
4436	MSH2	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:144
4436	MSH2	HP:0003401	Paresthesia	HP:0040283	ORPHA:144
4436	MSH2	HP:0003596	Middle age onset	3/3	OMIM:158320
4436	MSH2	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:144
4436	MSH2	HP:0002253	Colonic diverticula	-	OMIM:158320
4436	MSH2	HP:0009720	Adenoma sebaceum	-	OMIM:158320
4436	MSH2	HP:0009720	Adenoma sebaceum	HP:0040281	ORPHA:144
4436	MSH2	HP:0009726	Renal neoplasm	HP:0040283	ORPHA:144
4436	MSH2	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:144
4436	MSH2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:144
4436	MSH2	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:144
4436	MSH2	HP:0002376	Developmental regression	HP:0040283	ORPHA:144
4436	MSH2	HP:0002354	Memory impairment	HP:0040283	ORPHA:144
4436	MSH2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:144
4436	MSH2	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:144
4436	MSH2	HP:0100684	Salivary gland neoplasm	HP:0040283	ORPHA:144
4436	MSH2	HP:0100615	Ovarian neoplasm	1/1	OMIM:158320
4436	MSH2	HP:0100615	Ovarian neoplasm	HP:0040283	ORPHA:144
4436	MSH2	HP:0100613	Death in early adulthood	HP:0040282	ORPHA:144
4436	MSH2	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:144
4436	MSH2	HP:0001903	Anemia	HP:0040282	OMIM:174900
4436	MSH2	HP:0003002	Breast carcinoma	-	OMIM:158320
4436	MSH2	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:144
4436	MSH2	HP:0003003	Colon cancer	2/3	OMIM:158320
4436	MSH2	HP:0003003	Colon cancer	-	OMIM:619096
4436	MSH2	HP:0003003	Colon cancer	20%	OMIM:174900
4436	MSH2	HP:0003003	Colon cancer	-	OMIM:120435
4436	MSH2	HP:0003003	Colon cancer	5/12	OMIM:608456
4436	MSH2	HP:0003003	Colon cancer	HP:0040282	ORPHA:144
4436	MSH2	HP:0003073	Hypoalbuminemia	-	OMIM:174900
4436	MSH2	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
4436	MSH2	HP:0004377	Hematological neoplasm	HP:0040283	ORPHA:144
4436	MSH2	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:144
4436	MSH2	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:144
4436	MSH2	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:144
4436	MSH2	HP:0000738	Hallucinations	HP:0040283	ORPHA:144
4436	MSH2	HP:0000737	Irritability	HP:0040282	ORPHA:144
4436	MSH2	HP:0000739	Anxiety	HP:0040282	ORPHA:144
4436	MSH2	HP:0000716	Depression	HP:0040282	ORPHA:144
4436	MSH2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:144
4436	MSH2	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:144
4436	MSH2	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:144
4436	MSH2	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:144
4436	MSH2	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:144
4436	MSH2	HP:0001522	Death in infancy	HP:0040282	ORPHA:144
4436	MSH2	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
4436	MSH2	HP:0012378	Fatigue	HP:0040281	ORPHA:144
4436	MSH2	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
4436	MSH2	HP:0002900	Hypokalemia	-	OMIM:174900
4436	MSH2	HP:0006753	Neoplasm of the stomach	HP:0040282	ORPHA:144
4436	MSH2	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
4436	MSH2	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:144
4436	MSH2	HP:0006727	T-cell acute lymphoblastic leukemias	-	OMIM:619096
4436	MSH2	HP:0006719	Benign gastrointestinal tract tumors	-	OMIM:158320
4436	MSH2	HP:0030410	Sebaceous gland carcinoma	3/3	OMIM:158320
4436	MSH2	HP:0006771	Duodenal adenocarcinoma	-	OMIM:158320
4436	MSH2	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
4436	MSH2	HP:0006778	Benign genitourinary tract neoplasm	-	OMIM:158320
4436	MSH2	HP:0006758	Malignant genitourinary tract tumor	-	OMIM:158320
4436	MSH2	HP:0006758	Malignant genitourinary tract tumor	HP:0040283	ORPHA:144
4436	MSH2	HP:0001824	Weight loss	HP:0040281	ORPHA:144
4436	MSH2	HP:0000505	Visual impairment	HP:0040283	ORPHA:144
4437	MSH3	HP:0002576	Intussusception	HP:0040283	OMIM:174900
4437	MSH3	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
4437	MSH3	HP:0025274	Ovarian dermoid cyst	HP:0040283	ORPHA:480536
4437	MSH3	HP:0001217	Clubbing	HP:0040283	OMIM:174900
4437	MSH3	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
4437	MSH3	HP:0000007	Autosomal recessive inheritance	-	OMIM:617100
4437	MSH3	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
4437	MSH3	HP:0000006	Autosomal dominant inheritance	-	OMIM:608089
4437	MSH3	HP:0033770	Gastric adenocarcinoma	1/4	OMIM:617100
4437	MSH3	HP:0012126	Stomach cancer	HP:0040282	ORPHA:480536
4437	MSH3	HP:0000138	Ovarian cyst	1/4	OMIM:617100
4437	MSH3	HP:0012114	Endometrial carcinoma	-	OMIM:608089
4437	MSH3	HP:0000131	Uterine leiomyoma	HP:0040282	ORPHA:480536
4437	MSH3	HP:0000131	Uterine leiomyoma	2/4	OMIM:617100
4437	MSH3	HP:0001442	Typified by somatic mosaicism	-	OMIM:608089
4437	MSH3	HP:0000107	Renal cyst	1/4	OMIM:617100
4437	MSH3	HP:0000107	Renal cyst	HP:0040283	ORPHA:480536
4437	MSH3	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
4437	MSH3	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
4437	MSH3	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
4437	MSH3	HP:6000102	Breast intraductal papilloma	2/3	OMIM:617100
4437	MSH3	HP:0004784	Juvenile gastrointestinal polyposis	HP:0040281	ORPHA:480536
4437	MSH3	HP:0004783	Duodenal polyposis	1/4	OMIM:617100
4437	MSH3	HP:0009592	Astrocytoma	1/4	OMIM:617100
4437	MSH3	HP:0009592	Astrocytoma	HP:0040282	ORPHA:480536
4437	MSH3	HP:0003596	Middle age onset	1/4	OMIM:617100
4437	MSH3	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:480536
4437	MSH3	HP:0200063	Colorectal polyposis	HP:0040281	ORPHA:480536
4437	MSH3	HP:0001903	Anemia	HP:0040282	OMIM:174900
4437	MSH3	HP:0003003	Colon cancer	20%	OMIM:174900
4437	MSH3	HP:0003003	Colon cancer	5/12	OMIM:608456
4437	MSH3	HP:0003003	Colon cancer	HP:0040282	ORPHA:480536
4437	MSH3	HP:0003073	Hypoalbuminemia	-	OMIM:174900
4437	MSH3	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
4437	MSH3	HP:0004394	Multiple gastric polyps	HP:0040282	ORPHA:480536
4437	MSH3	HP:0012740	Papilloma	HP:0040282	ORPHA:480536
4437	MSH3	HP:0011462	Young adult onset	3/4	OMIM:617100
4437	MSH3	HP:0000854	Thyroid adenoma	HP:0040282	ORPHA:480536
4437	MSH3	HP:0000854	Thyroid adenoma	1/4	OMIM:617100
4437	MSH3	HP:0008069	Neoplasm of the skin	HP:0040282	ORPHA:480536
4437	MSH3	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
4437	MSH3	HP:0005227	Adenomatous colonic polyposis	4/4	OMIM:617100
4437	MSH3	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
4437	MSH3	HP:0005227	Adenomatous colonic polyposis	HP:0040281	ORPHA:480536
4437	MSH3	HP:0002900	Hypokalemia	-	OMIM:174900
4437	MSH3	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
4437	MSH3	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
4438	MSH4	HP:0001166	Arachnodactyly	HP:0040284	ORPHA:243
4438	MSH4	HP:0009888	Abnormality of secondary sexual hair	HP:0040281	ORPHA:243
4438	MSH4	HP:0001251	Ataxia	HP:0040284	ORPHA:243
4438	MSH4	HP:0008684	Aplasia/hypoplasia of the uterus	HP:0040282	ORPHA:243
4438	MSH4	HP:0000062	Ambiguous genitalia	-	ORPHA:243
4438	MSH4	HP:0000027	Azoospermia	-	OMIM:108420
4438	MSH4	HP:0000007	Autosomal recessive inheritance	-	OMIM:619938
4438	MSH4	HP:0000007	Autosomal recessive inheritance	-	OMIM:108420
4438	MSH4	HP:0000144	Decreased fertility	HP:0040281	ORPHA:243
4438	MSH4	HP:0000133	Gonadal dysgenesis	HP:0040280	ORPHA:243
4438	MSH4	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:243
4438	MSH4	HP:0010464	Streak ovary	HP:0040282	ORPHA:243
4438	MSH4	HP:0008232	Elevated circulating follicle stimulating hormone level	2/2	OMIM:619938
4438	MSH4	HP:0008222	Female infertility	2/2	OMIM:619938
4438	MSH4	HP:0008209	Premature ovarian insufficiency	HP:0040280	ORPHA:243
4438	MSH4	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:243
4438	MSH4	HP:0002225	Sparse pubic hair	HP:0040282	ORPHA:243
4438	MSH4	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:243
4438	MSH4	HP:0011969	Elevated circulating luteinizing hormone level	2/2	OMIM:619938
4438	MSH4	HP:0011961	Non-obstructive azoospermia	1/1	OMIM:108420
4438	MSH4	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040283	ORPHA:243
4438	MSH4	HP:0004322	Short stature	HP:0040283	ORPHA:243
4438	MSH4	HP:0005625	Osteoporosis of vertebrae	HP:0040282	ORPHA:243
4438	MSH4	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:243
4438	MSH4	HP:0011462	Young adult onset	1/1	OMIM:108420
4438	MSH4	HP:0011462	Young adult onset	2/2	OMIM:619938
4438	MSH4	HP:0000798	Oligozoospermia	-	OMIM:108420
4438	MSH4	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:243
4438	MSH4	HP:0000869	Secondary amenorrhea	2/2	OMIM:619938
4438	MSH4	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:243
4438	MSH4	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:243
4438	MSH4	HP:0000823	Delayed puberty	HP:0040281	ORPHA:243
4438	MSH4	HP:0003251	Male infertility	1/1	OMIM:108420
4438	MSH4	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:243
4438	MSH4	HP:0000938	Osteopenia	HP:0040282	ORPHA:243
4438	MSH4	HP:0030087	Abnormal circulating testosterone concentration	0/1	OMIM:108420
4438	MSH4	HP:0000252	Microcephaly	HP:0040284	ORPHA:243
4438	MSH4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:243
4438	MSH4	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0/1	OMIM:108420
4438	MSH4	HP:0030345	Abnormal circulating luteinizing hormone concentration	0/1	OMIM:108420
4439	MSH5	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
4439	MSH5	HP:0031038	Spermatogenesis maturation arrest	1/1	OMIM:619937
4439	MSH5	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
4439	MSH5	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
4439	MSH5	HP:0000013	Hypoplasia of the uterus	2/2	OMIM:617442
4439	MSH5	HP:0000007	Autosomal recessive inheritance	-	OMIM:617442
4439	MSH5	HP:0000007	Autosomal recessive inheritance	-	OMIM:619937
4439	MSH5	HP:0000141	Amenorrhea	2/2	OMIM:617442
4439	MSH5	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
4439	MSH5	HP:0008232	Elevated circulating follicle stimulating hormone level	2/2	OMIM:617442
4439	MSH5	HP:0008222	Female infertility	2/2	OMIM:617442
4439	MSH5	HP:0011961	Non-obstructive azoospermia	4/4	OMIM:619937
4439	MSH5	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
4439	MSH5	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
4439	MSH5	HP:0003621	Juvenile onset	2/2	OMIM:617442
4439	MSH5	HP:0011462	Young adult onset	4/4	OMIM:619937
4439	MSH5	HP:0000876	Oligomenorrhea	2/2	OMIM:617442
4439	MSH5	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
4439	MSH5	HP:0003251	Male infertility	4/4	OMIM:619937
4478	MSN	HP:0000010	Recurrent urinary tract infections	-	OMIM:300988
4478	MSN	HP:0001419	X-linked recessive inheritance	-	OMIM:300988
4478	MSN	HP:0002205	Recurrent respiratory infections	-	OMIM:300988
4478	MSN	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:300988
4478	MSN	HP:0000964	Eczematoid dermatitis	-	OMIM:300988
4478	MSN	HP:0001888	Decreased total lymphocyte count	-	OMIM:300988
4478	MSN	HP:0001875	Decreased total neutrophil count	-	OMIM:300988
4481	MSR1	HP:0001442	Typified by somatic mosaicism	-	OMIM:614266
4481	MSR1	HP:0002020	Gastroesophageal reflux	-	OMIM:614266
4481	MSR1	HP:0100580	Barrett esophagus	-	OMIM:614266
4481	MSR1	HP:0004791	Esophageal ulceration	HP:0040281	OMIM:614266
4481	MSR1	HP:0011459	Esophageal carcinoma	-	OMIM:614266
4485	MST1	HP:0003700	Generalized amyotrophy	HP:0040283	ORPHA:171
4485	MST1	HP:0001298	Encephalopathy	HP:0040284	ORPHA:171
4485	MST1	HP:0100869	Palmar telangiectasia	HP:0040282	ORPHA:171
4485	MST1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:171
4485	MST1	HP:0001396	Cholestasis	HP:0040281	ORPHA:171
4485	MST1	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:171
4485	MST1	HP:0001394	Cirrhosis	HP:0040282	ORPHA:171
4485	MST1	HP:0002608	Celiac disease	HP:0040283	ORPHA:171
4485	MST1	HP:0012115	Hepatitis	HP:0040283	ORPHA:171
4485	MST1	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:171
4485	MST1	HP:0001409	Portal hypertension	HP:0040282	ORPHA:171
4485	MST1	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:171
4485	MST1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:171
4485	MST1	HP:0100512	Decreased circulating vitamin D concentration	HP:0040283	ORPHA:171
4485	MST1	HP:0100513	Decreased circulating vitamin E concentration	HP:0040283	ORPHA:171
4485	MST1	HP:0100575	Neoplasm of the gallbladder	HP:0040284	ORPHA:171
4485	MST1	HP:0040275	Adenocarcinoma of the large intestine	HP:0040283	ORPHA:171
4485	MST1	HP:0008151	Prolonged prothrombin time	HP:0040283	ORPHA:171
4485	MST1	HP:0003459	Polyclonal elevation of IgM	HP:0040283	ORPHA:171
4485	MST1	HP:0011892	Decreased circulating vitamin K concentration	HP:0040283	ORPHA:171
4485	MST1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:171
4485	MST1	HP:0002202	Pleural effusion	HP:0040283	ORPHA:171
4485	MST1	HP:0100727	Histiocytosis	-	ORPHA:171
4485	MST1	HP:0010638	Elevated alkaline phosphatase of hepatic origin	HP:0040282	ORPHA:171
4485	MST1	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:171
4485	MST1	HP:0100646	Thyroiditis	HP:0040283	ORPHA:171
4485	MST1	HP:0100626	Chronic hepatic failure	HP:0040283	ORPHA:171
4485	MST1	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:171
4485	MST1	HP:0004905	Reduced circulating vitamin A concentration	HP:0040283	ORPHA:171
4485	MST1	HP:0001945	Fever	HP:0040282	ORPHA:171
4485	MST1	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:171
4485	MST1	HP:0012700	Abnormal large intestine physiology	HP:0040282	ORPHA:171
4485	MST1	HP:0000716	Depression	HP:0040283	ORPHA:171
4485	MST1	HP:0100279	Ulcerative colitis	HP:0040282	ORPHA:171
4485	MST1	HP:0000989	Pruritus	HP:0040283	ORPHA:171
4485	MST1	HP:0000952	Jaundice	HP:0040283	ORPHA:171
4485	MST1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:171
4485	MST1	HP:0000938	Osteopenia	HP:0040283	ORPHA:171
4485	MST1	HP:0001541	Ascites	HP:0040282	ORPHA:171
4485	MST1	HP:0012378	Fatigue	HP:0040283	ORPHA:171
4485	MST1	HP:0011034	Amyloidosis	-	ORPHA:171
4485	MST1	HP:0006554	Acute hepatic failure	HP:0040284	ORPHA:171
4485	MST1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:171
4485	MST1	HP:0030153	Cholangiocarcinoma	HP:0040283	ORPHA:171
4485	MST1	HP:0002960	Autoimmunity	HP:0040281	ORPHA:171
4485	MST1	HP:0030168	Dilated superficial abdominal veins	HP:0040282	ORPHA:171
4485	MST1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:171
4485	MST1	HP:0001733	Pancreatitis	HP:0040283	ORPHA:171
4485	MST1	HP:0012440	Abnormal biliary tract morphology	HP:0040281	ORPHA:171
4485	MST1	HP:0001744	Splenomegaly	HP:0040282	ORPHA:171
4485	MST1	HP:0005429	Recurrent systemic pyogenic infections	-	ORPHA:171
4485	MST1	HP:0001824	Weight loss	HP:0040282	ORPHA:171
4485	MST1	HP:0000554	Uveitis	HP:0040284	ORPHA:171
4485	MST1	HP:0012522	Spider hemangioma	HP:0040282	ORPHA:171
4485	MST1	HP:0001879	Abnormal eosinophil morphology	-	ORPHA:171
4486	MST1R	HP:0000006	Autosomal dominant inheritance	-	OMIM:617075
4486	MST1R	HP:0100630	Neoplasia of the nasopharynx	7/13	OMIM:617075
4487	MSX1	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:2228
4487	MSX1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199306
4487	MSX1	HP:0410011	Abnormality of masticatory muscle	HP:0040282	ORPHA:141291
4487	MSX1	HP:0001328	Specific learning disability	HP:0040284	ORPHA:199302
4487	MSX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:608874
4487	MSX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:189500
4487	MSX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:106600
4487	MSX1	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:2228
4487	MSX1	HP:0000175	Cleft palate	HP:0040282	ORPHA:199306
4487	MSX1	HP:0000175	Cleft palate	-	OMIM:608874
4487	MSX1	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:2228
4487	MSX1	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:199306
4487	MSX1	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:99798
4487	MSX1	HP:0006344	Abnormal primary molar morphology	HP:0040283	ORPHA:99798
4487	MSX1	HP:0006347	Microdontia of primary teeth	-	OMIM:189500
4487	MSX1	HP:0006349	Agenesis of permanent teeth	9/9	OMIM:189500
4487	MSX1	HP:0006349	Agenesis of permanent teeth	HP:0040281	ORPHA:2228
4487	MSX1	HP:0006332	Supernumerary maxillary incisor	HP:0040283	ORPHA:199302
4487	MSX1	HP:0006336	Short dental root	HP:0040282	ORPHA:99798
4487	MSX1	HP:0006292	Abnormality of dental eruption	HP:0040281	ORPHA:199306
4487	MSX1	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:99798
4487	MSX1	HP:0006289	Agenesis of central incisor	HP:0040282	ORPHA:99798
4487	MSX1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:141291
4487	MSX1	HP:0002033	Poor suck	HP:0040282	ORPHA:199306
4487	MSX1	HP:0002015	Dysphagia	HP:0040283	ORPHA:141291
4487	MSX1	HP:0011937	Hypoplastic fifth toenail	9/9	OMIM:189500
4487	MSX1	HP:0002213	Fine hair	0/9	OMIM:189500
4487	MSX1	HP:0002213	Fine hair	HP:0040282	ORPHA:2228
4487	MSX1	HP:0008402	Ridged fingernail	HP:0040281	ORPHA:2228
4487	MSX1	HP:0200153	Agenesis of lateral incisor	HP:0040283	ORPHA:199306
4487	MSX1	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:199306
4487	MSX1	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:141291
4487	MSX1	HP:0009088	Speech articulation difficulties	HP:0040283	ORPHA:199302
4487	MSX1	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:199306
4487	MSX1	HP:0000696	Delayed eruption of permanent teeth	HP:0040282	ORPHA:99798
4487	MSX1	HP:0000698	Conical tooth	HP:0040281	ORPHA:2228
4487	MSX1	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:99798
4487	MSX1	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:2228
4487	MSX1	HP:0000679	Taurodontia	HP:0040283	ORPHA:99798
4487	MSX1	HP:0000677	Oligodontia	HP:0040280	ORPHA:99798
4487	MSX1	HP:0000691	Microdontia	HP:0040282	ORPHA:99798
4487	MSX1	HP:0000690	Agenesis of maxillary lateral incisor	HP:0040282	ORPHA:99798
4487	MSX1	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:199306
4487	MSX1	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:99798
4487	MSX1	HP:0000685	Hypoplasia of teeth	HP:0040283	ORPHA:99798
4487	MSX1	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:99798
4487	MSX1	HP:0000668	Hypodontia	HP:0040283	ORPHA:141291
4487	MSX1	HP:0000668	Hypodontia	-	OMIM:106600
4487	MSX1	HP:0000668	Hypodontia	HP:0040284	ORPHA:199302
4487	MSX1	HP:0000668	Hypodontia	HP:0040281	ORPHA:2228
4487	MSX1	HP:0004395	Malnutrition	HP:0040283	ORPHA:199306
4487	MSX1	HP:0012746	Thin toenail	HP:0040281	ORPHA:2228
4487	MSX1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:199306
4487	MSX1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:199302
4487	MSX1	HP:0011463	Childhood onset	-	OMIM:106600
4487	MSX1	HP:0011438	Maternal teratogenic exposure	HP:0040283	ORPHA:199302
4487	MSX1	HP:0040115	Abnormal Eustachian tube morphology	HP:0040283	ORPHA:199302
4487	MSX1	HP:0100336	Bilateral cleft lip	HP:0040283	ORPHA:199302
4487	MSX1	HP:0100337	Bilateral cleft palate	HP:0040283	ORPHA:199306
4487	MSX1	HP:0100334	Unilateral cleft palate	HP:0040282	ORPHA:199306
4487	MSX1	HP:0100335	Non-midline cleft of the upper lip	HP:0040282	ORPHA:199302
4487	MSX1	HP:0010294	Palate fistula	HP:0040283	ORPHA:199306
4487	MSX1	HP:0100267	Lip pit	HP:0040281	ORPHA:141291
4487	MSX1	HP:0000971	Abnormal sweat gland morphology	0/9	OMIM:189500
4487	MSX1	HP:0008070	Sparse hair	0/9	OMIM:189500
4487	MSX1	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:2228
4487	MSX1	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:141291
4487	MSX1	HP:0001598	Concave nail	9/9	OMIM:189500
4487	MSX1	HP:0005105	Abnormal nasal morphology	HP:0040282	ORPHA:141291
4487	MSX1	HP:0001572	Macrodontia	HP:0040283	ORPHA:199302
4487	MSX1	HP:0000220	Velopharyngeal insufficiency	HP:0040283	ORPHA:199302
4487	MSX1	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:199306
4487	MSX1	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:199302
4487	MSX1	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:2228
4487	MSX1	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:199302
4487	MSX1	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:199306
4487	MSX1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:99798
4487	MSX1	HP:0000204	Cleft upper lip	-	OMIM:608874
4487	MSX1	HP:0001518	Small for gestational age	HP:0040283	ORPHA:199302
4487	MSX1	HP:0011078	Abnormality of canine	HP:0040283	ORPHA:99798
4487	MSX1	HP:0011053	Agenesis of mandibular premolar	HP:0040283	ORPHA:99798
4487	MSX1	HP:0011051	Agenesis of premolar	HP:0040282	ORPHA:99798
4487	MSX1	HP:0011056	Agenesis of first permanent molar tooth	HP:0040282	ORPHA:99798
4487	MSX1	HP:0011044	Abnormal number of permanent teeth	HP:0040283	ORPHA:199306
4487	MSX1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:199302
4487	MSX1	HP:0005216	Impaired mastication	HP:0040282	ORPHA:141291
4487	MSX1	HP:0005216	Impaired mastication	HP:0040281	ORPHA:99798
4487	MSX1	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:141291
4487	MSX1	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:199306
4487	MSX1	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:99798
4487	MSX1	HP:0006482	Abnormal dental morphology	HP:0040281	ORPHA:2228
4487	MSX1	HP:0001696	Situs inversus totalis	HP:0040284	ORPHA:199302
4487	MSX1	HP:0031469	Low self-esteem	HP:0040283	ORPHA:199302
4487	MSX1	HP:0000327	Hypoplasia of the maxilla	HP:0040284	ORPHA:199306
4487	MSX1	HP:0005324	Disturbance of facial expression	HP:0040282	ORPHA:141291
4487	MSX1	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:199306
4487	MSX1	HP:0000405	Conductive hearing impairment	HP:0040284	ORPHA:199302
4487	MSX1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:199306
4487	MSX1	HP:0012472	Eclabion	HP:0040283	ORPHA:99798
4487	MSX1	HP:0000419	Abnormal nasal septum morphology	HP:0040283	ORPHA:141291
4487	MSX1	HP:0001762	Talipes equinovarus	HP:0040284	ORPHA:199302
4487	MSX1	HP:0001808	Fragile nails	HP:0040281	ORPHA:2228
4487	MSX1	HP:0001804	Hypoplastic fingernail	HP:0040281	ORPHA:2228
4487	MSX1	HP:0001807	Ridged nail	-	OMIM:189500
4487	MSX1	HP:0001800	Hypoplastic toenails	HP:0040281	ORPHA:2228
4487	MSX1	HP:0001803	Nail pits	-	OMIM:189500
4487	MSX1	HP:0011219	Short face	HP:0040283	ORPHA:99798
4488	MSX2	HP:0001156	Brachydactyly	1/8	OMIM:604757
4488	MSX2	HP:0002475	Myelomeningocele	HP:0040284	ORPHA:60015
4488	MSX2	HP:0001123	Visual field defect	HP:0040283	OMIM:604757
4488	MSX2	HP:0001199	Triphalangeal thumb	HP:0040283	OMIM:604757
4488	MSX2	HP:0008551	Microtia	-	OMIM:168550
4488	MSX2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4488	MSX2	HP:0001293	Cranial nerve compression	-	OMIM:131300
4488	MSX2	HP:0100809	Scalp tenderness	HP:0040283	ORPHA:60015
4488	MSX2	HP:0025247	Dermoid cyst	-	OMIM:168550
4488	MSX2	HP:0001250	Seizure	-	OMIM:168500
4488	MSX2	HP:0001250	Seizure	HP:0040284	ORPHA:60015
4488	MSX2	HP:0001250	Seizure	HP:0040283	OMIM:604757
4488	MSX2	HP:0001252	Hypotonia	2/7	OMIM:615777
4488	MSX2	HP:0001249	Intellectual disability	HP:0040284	ORPHA:60015
4488	MSX2	HP:0001249	Intellectual disability	0/8	OMIM:604757
4488	MSX2	HP:0001249	Intellectual disability	5/7	OMIM:615777
4488	MSX2	HP:0001263	Global developmental delay	-	OMIM:615777
4488	MSX2	HP:0007385	Aplasia cutis congenita of scalp	HP:0040284	ORPHA:60015
4488	MSX2	HP:0007385	Aplasia cutis congenita of scalp	-	OMIM:168500
4488	MSX2	HP:0002515	Waddling gait	54/102	OMIM:131300
4488	MSX2	HP:0001382	Joint hypermobility	-	OMIM:615777
4488	MSX2	HP:0002697	Parietal foramina	HP:0040281	ORPHA:60015
4488	MSX2	HP:0002697	Parietal foramina	20/20	OMIM:168550
4488	MSX2	HP:0002697	Parietal foramina	19/20	OMIM:168500
4488	MSX2	HP:0001363	Craniosynostosis	8/8	OMIM:604757
4488	MSX2	HP:0001363	Craniosynostosis	HP:0040284	ORPHA:60015
4488	MSX2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4488	MSX2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4488	MSX2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4488	MSX2	HP:0001324	Muscle weakness	40/96	OMIM:131300
4488	MSX2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4488	MSX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4488	MSX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:168550
4488	MSX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:168500
4488	MSX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4488	MSX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:604757
4488	MSX2	HP:0002650	Scoliosis	12/14	OMIM:131300
4488	MSX2	HP:0002645	Wormian bones	1/10	OMIM:168500
4488	MSX2	HP:0002645	Wormian bones	1/8	OMIM:604757
4488	MSX2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4488	MSX2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4488	MSX2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4488	MSX2	HP:0000185	Cleft soft palate	HP:0040283	OMIM:604757
4488	MSX2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4488	MSX2	HP:0000175	Cleft palate	-	OMIM:168500
4488	MSX2	HP:0000175	Cleft palate	HP:0040284	ORPHA:60015
4488	MSX2	HP:0000175	Cleft palate	2/7	OMIM:615777
4488	MSX2	HP:0410030	Cleft lip	HP:0040284	ORPHA:60015
4488	MSX2	HP:0002762	Multiple exostoses	HP:0040284	ORPHA:60015
4488	MSX2	HP:0002013	Vomiting	HP:0040283	ORPHA:60015
4488	MSX2	HP:0002007	Frontal bossing	-	OMIM:604757
4488	MSX2	HP:0002085	Occipital encephalocele	HP:0040284	ORPHA:60015
4488	MSX2	HP:0002084	Encephalocele	-	OMIM:168500
4488	MSX2	HP:0003388	Easy fatigability	36/76	OMIM:131300
4488	MSX2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4488	MSX2	HP:0003593	Infantile onset	-	OMIM:604757
4488	MSX2	HP:0003510	Severe short stature	7/7	OMIM:615777
4488	MSX2	HP:0002315	Headache	-	OMIM:131300
4488	MSX2	HP:0002315	Headache	HP:0040283	OMIM:604757
4488	MSX2	HP:0002315	Headache	HP:0040283	ORPHA:60015
4488	MSX2	HP:0002315	Headache	-	OMIM:168500
4488	MSX2	HP:0004976	Knee dislocation	6/7	OMIM:615777
4488	MSX2	HP:0009803	Short phalanx of finger	-	OMIM:615777
4488	MSX2	HP:0008497	Congenital craniofacial dysostosis	HP:0040284	ORPHA:60015
4488	MSX2	HP:0009763	Limb pain	63/92	OMIM:131300
4488	MSX2	HP:0003621	Juvenile onset	-	OMIM:131300
4488	MSX2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4488	MSX2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4488	MSX2	HP:6001056	Out-toeing	-	OMIM:131300
4488	MSX2	HP:0000651	Diplopia	-	OMIM:131300
4488	MSX2	HP:0001956	Truncal obesity	2/7	OMIM:615777
4488	MSX2	HP:0000601	Hypotelorism	2/8	OMIM:604757
4488	MSX2	HP:0001903	Anemia	HP:0040283	OMIM:131300
4488	MSX2	HP:0010049	Short metacarpal	-	OMIM:615777
4488	MSX2	HP:0000678	Dental crowding	-	OMIM:615777
4488	MSX2	HP:0011330	Metopic synostosis	1/8	OMIM:604757
4488	MSX2	HP:0011318	Bicoronal synostosis	2/8	OMIM:604757
4488	MSX2	HP:0011315	Unicoronal synostosis	1/8	OMIM:604757
4488	MSX2	HP:0000670	Carious teeth	-	OMIM:131300
4488	MSX2	HP:0011304	Broad thumb	2/7	OMIM:615777
4488	MSX2	HP:0011304	Broad thumb	HP:0040284	ORPHA:60015
4488	MSX2	HP:0000668	Hypodontia	-	OMIM:615777
4488	MSX2	HP:0000664	Synophrys	-	OMIM:615777
4488	MSX2	HP:0004396	Poor appetite	-	OMIM:131300
4488	MSX2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4488	MSX2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4488	MSX2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4488	MSX2	HP:0003026	Short long bone	7/7	OMIM:615777
4488	MSX2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4488	MSX2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4488	MSX2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4488	MSX2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4488	MSX2	HP:0012721	Venous malformation	HP:0040283	ORPHA:60015
4488	MSX2	HP:0000750	Delayed speech and language development	-	OMIM:615777
4488	MSX2	HP:0011461	Fetal onset	7/7	OMIM:615777
4488	MSX2	HP:0000774	Narrow chest	2/7	OMIM:615777
4488	MSX2	HP:0000926	Platyspondyly	1/7	OMIM:615777
4488	MSX2	HP:0003180	Flat acetabular roof	-	OMIM:615777
4488	MSX2	HP:0004482	Relative macrocephaly	-	OMIM:615777
4488	MSX2	HP:0004492	Widely patent fontanelles and sutures	-	OMIM:168550
4488	MSX2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4488	MSX2	HP:0000823	Delayed puberty	-	OMIM:131300
4488	MSX2	HP:0000894	Short clavicles	HP:0040284	ORPHA:60015
4488	MSX2	HP:0000894	Short clavicles	-	OMIM:615777
4488	MSX2	HP:0000894	Short clavicles	-	OMIM:168550
4488	MSX2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4488	MSX2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4488	MSX2	HP:0000932	Abnormal posterior cranial fossa morphology	HP:0040283	ORPHA:60015
4488	MSX2	HP:0040197	Encephalomalacia	HP:0040284	ORPHA:60015
4488	MSX2	HP:0000286	Epicanthus	1/7	OMIM:615777
4488	MSX2	HP:0000280	Coarse facial features	2/7	OMIM:615777
4488	MSX2	HP:0000262	Turricephaly	1/8	OMIM:604757
4488	MSX2	HP:0000256	Macrocephaly	-	OMIM:168550
4488	MSX2	HP:0000256	Macrocephaly	1/10	OMIM:168500
4488	MSX2	HP:0002827	Hip dislocation	3/7	OMIM:615777
4488	MSX2	HP:0000243	Trigonocephaly	1/8	OMIM:604757
4488	MSX2	HP:0000252	Microcephaly	-	OMIM:615777
4488	MSX2	HP:0000248	Brachycephaly	2/8	OMIM:604757
4488	MSX2	HP:0002857	Genu valgum	-	OMIM:131300
4488	MSX2	HP:0001533	Slender build	-	OMIM:131300
4488	MSX2	HP:0000204	Cleft upper lip	-	OMIM:168500
4488	MSX2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4488	MSX2	HP:0007807	Optic nerve compression	-	OMIM:131300
4488	MSX2	HP:0011069	Supernumerary tooth	HP:0040283	OMIM:604757
4488	MSX2	HP:0012368	Flat face	7/7	OMIM:615777
4488	MSX2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4488	MSX2	HP:0000365	Hearing impairment	10/67	OMIM:131300
4488	MSX2	HP:0000343	Long philtrum	1/7	OMIM:615777
4488	MSX2	HP:0011001	Increased bone mineral density	-	OMIM:131300
4488	MSX2	HP:0000311	Round face	2/7	OMIM:615777
4488	MSX2	HP:0002970	Genu varum	-	OMIM:615777
4488	MSX2	HP:0000303	Mandibular prognathia	-	OMIM:131300
4488	MSX2	HP:0012480	Abnormal cerebral vein morphology	HP:0040284	ORPHA:60015
4488	MSX2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4488	MSX2	HP:0000470	Short neck	1/7	OMIM:615777
4488	MSX2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4488	MSX2	HP:0001763	Pes planus	1/7	OMIM:615777
4488	MSX2	HP:0001840	Metatarsus adductus	-	OMIM:615777
4488	MSX2	HP:0000520	Proptosis	2/4	OMIM:131300
4488	MSX2	HP:0000520	Proptosis	7/7	OMIM:615777
4488	MSX2	HP:0000592	Blue sclerae	2/7	OMIM:615777
4488	MSX2	HP:0000592	Blue sclerae	1/10	OMIM:168500
4488	MSX2	HP:0000540	Hypermetropia	HP:0040283	OMIM:604757
4488	MSX2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4488	MSX2	HP:0012514	Lower limb pain	4/4	OMIM:131300
4488	MSX2	HP:0000545	Myopia	HP:0040283	OMIM:604757
4507	MTAP	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4507	MTAP	HP:0003701	Proximal muscle weakness	-	OMIM:112250
4507	MTAP	HP:0001293	Cranial nerve compression	-	OMIM:131300
4507	MTAP	HP:0001252	Hypotonia	2/7	OMIM:615777
4507	MTAP	HP:0001249	Intellectual disability	5/7	OMIM:615777
4507	MTAP	HP:0001263	Global developmental delay	-	OMIM:615777
4507	MTAP	HP:0002515	Waddling gait	54/102	OMIM:131300
4507	MTAP	HP:0001382	Joint hypermobility	-	OMIM:615777
4507	MTAP	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4507	MTAP	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4507	MTAP	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4507	MTAP	HP:0001324	Muscle weakness	40/96	OMIM:131300
4507	MTAP	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4507	MTAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4507	MTAP	HP:0002669	Osteosarcoma	-	OMIM:112250
4507	MTAP	HP:0000006	Autosomal dominant inheritance	-	OMIM:112250
4507	MTAP	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4507	MTAP	HP:0002650	Scoliosis	12/14	OMIM:131300
4507	MTAP	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4507	MTAP	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4507	MTAP	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4507	MTAP	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4507	MTAP	HP:0000175	Cleft palate	2/7	OMIM:615777
4507	MTAP	HP:0005010	Osteomyelitis leading to amputation due to slow healing fractures	-	OMIM:112250
4507	MTAP	HP:0002756	Pathologic fracture	-	OMIM:112250
4507	MTAP	HP:0003325	Limb-girdle muscle weakness	-	OMIM:112250
4507	MTAP	HP:0003388	Easy fatigability	36/76	OMIM:131300
4507	MTAP	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4507	MTAP	HP:0002216	Premature graying of hair	HP:0040283	OMIM:112250
4507	MTAP	HP:0003510	Severe short stature	7/7	OMIM:615777
4507	MTAP	HP:0003690	Limb muscle weakness	-	OMIM:112250
4507	MTAP	HP:0003676	Progressive	-	OMIM:112250
4507	MTAP	HP:0002315	Headache	-	OMIM:131300
4507	MTAP	HP:0004976	Knee dislocation	6/7	OMIM:615777
4507	MTAP	HP:0009803	Short phalanx of finger	-	OMIM:615777
4507	MTAP	HP:0009763	Limb pain	63/92	OMIM:131300
4507	MTAP	HP:0003621	Juvenile onset	-	OMIM:131300
4507	MTAP	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4507	MTAP	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4507	MTAP	HP:6001056	Out-toeing	-	OMIM:131300
4507	MTAP	HP:0000651	Diplopia	-	OMIM:131300
4507	MTAP	HP:0001956	Truncal obesity	2/7	OMIM:615777
4507	MTAP	HP:0001903	Anemia	HP:0040283	OMIM:131300
4507	MTAP	HP:0010049	Short metacarpal	-	OMIM:615777
4507	MTAP	HP:0000678	Dental crowding	-	OMIM:615777
4507	MTAP	HP:0000670	Carious teeth	-	OMIM:131300
4507	MTAP	HP:0011304	Broad thumb	2/7	OMIM:615777
4507	MTAP	HP:0000668	Hypodontia	-	OMIM:615777
4507	MTAP	HP:0000664	Synophrys	-	OMIM:615777
4507	MTAP	HP:0003084	Recurrent long bone fractures	-	OMIM:112250
4507	MTAP	HP:0004396	Poor appetite	-	OMIM:131300
4507	MTAP	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4507	MTAP	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4507	MTAP	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4507	MTAP	HP:0003026	Short long bone	7/7	OMIM:615777
4507	MTAP	HP:0005686	Patchy osteosclerosis	-	OMIM:112250
4507	MTAP	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4507	MTAP	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4507	MTAP	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4507	MTAP	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4507	MTAP	HP:0000750	Delayed speech and language development	-	OMIM:615777
4507	MTAP	HP:0011461	Fetal onset	7/7	OMIM:615777
4507	MTAP	HP:0000774	Narrow chest	2/7	OMIM:615777
4507	MTAP	HP:0003198	Myopathy	HP:0040283	OMIM:112250
4507	MTAP	HP:0000926	Platyspondyly	1/7	OMIM:615777
4507	MTAP	HP:0003180	Flat acetabular roof	-	OMIM:615777
4507	MTAP	HP:0004482	Relative macrocephaly	-	OMIM:615777
4507	MTAP	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4507	MTAP	HP:0000823	Delayed puberty	-	OMIM:131300
4507	MTAP	HP:0000894	Short clavicles	-	OMIM:615777
4507	MTAP	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4507	MTAP	HP:0003202	Skeletal muscle atrophy	-	OMIM:112250
4507	MTAP	HP:0100254	Stenosis of the medullary cavity of the long bones	-	OMIM:112250
4507	MTAP	HP:0000978	Bruising susceptibility	HP:0040283	OMIM:112250
4507	MTAP	HP:0000977	Soft skin	HP:0040283	OMIM:112250
4507	MTAP	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4507	MTAP	HP:0000963	Thin skin	HP:0040283	OMIM:112250
4507	MTAP	HP:0000938	Osteopenia	-	OMIM:112250
4507	MTAP	HP:0100244	Fibrosarcoma	-	OMIM:112250
4507	MTAP	HP:0000286	Epicanthus	1/7	OMIM:615777
4507	MTAP	HP:0000280	Coarse facial features	2/7	OMIM:615777
4507	MTAP	HP:0002827	Hip dislocation	3/7	OMIM:615777
4507	MTAP	HP:0005045	Diaphyseal cortical sclerosis	-	OMIM:112250
4507	MTAP	HP:0000252	Microcephaly	-	OMIM:615777
4507	MTAP	HP:0002857	Genu valgum	-	OMIM:131300
4507	MTAP	HP:0001533	Slender build	-	OMIM:131300
4507	MTAP	HP:0031367	Metaphyseal striations	-	OMIM:112250
4507	MTAP	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4507	MTAP	HP:0007819	Presenile cataracts	-	OMIM:112250
4507	MTAP	HP:0007807	Optic nerve compression	-	OMIM:131300
4507	MTAP	HP:0012368	Flat face	7/7	OMIM:615777
4507	MTAP	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4507	MTAP	HP:0000365	Hearing impairment	10/67	OMIM:131300
4507	MTAP	HP:0000343	Long philtrum	1/7	OMIM:615777
4507	MTAP	HP:0011001	Increased bone mineral density	-	OMIM:131300
4507	MTAP	HP:0012315	Histiocytoma	-	OMIM:112250
4507	MTAP	HP:0002979	Bowing of the legs	-	OMIM:112250
4507	MTAP	HP:0000311	Round face	2/7	OMIM:615777
4507	MTAP	HP:0002970	Genu varum	-	OMIM:615777
4507	MTAP	HP:0000303	Mandibular prognathia	-	OMIM:131300
4507	MTAP	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4507	MTAP	HP:0000470	Short neck	1/7	OMIM:615777
4507	MTAP	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4507	MTAP	HP:0001763	Pes planus	1/7	OMIM:615777
4507	MTAP	HP:0001840	Metatarsus adductus	-	OMIM:615777
4507	MTAP	HP:0000520	Proptosis	2/4	OMIM:131300
4507	MTAP	HP:0000520	Proptosis	7/7	OMIM:615777
4507	MTAP	HP:0000592	Blue sclerae	2/7	OMIM:615777
4507	MTAP	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4507	MTAP	HP:0012514	Lower limb pain	4/4	OMIM:131300
4508	MT-ATP6	HP:0002483	Bulbar signs	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:255210
4508	MT-ATP6	HP:0001133	Constriction of peripheral visual field	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0001136	Retinal arteriolar tortuosity	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0001138	Optic neuropathy	HP:0040282	OMIM:535000
4508	MT-ATP6	HP:0001112	Leber optic atrophy	-	OMIM:535000
4508	MT-ATP6	HP:0002445	Tetraplegia	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0002446	Astrocytosis	HP:0040283	ORPHA:225154
4508	MT-ATP6	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:320360
4508	MT-ATP6	HP:0007240	Progressive gait ataxia	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0003739	Myoclonic spasms	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0003737	Mitochondrial myopathy	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0003737	Mitochondrial myopathy	-	OMIM:551500
4508	MT-ATP6	HP:0003701	Proximal muscle weakness	-	OMIM:551500
4508	MT-ATP6	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0001298	Encephalopathy	HP:0040282	ORPHA:254913
4508	MT-ATP6	HP:0001276	Hypertonia	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0001276	Hypertonia	HP:0040283	ORPHA:225154
4508	MT-ATP6	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0001271	Polyneuropathy	-	OMIM:535000
4508	MT-ATP6	HP:0001270	Motor delay	HP:0040282	ORPHA:254913
4508	MT-ATP6	HP:0001288	Gait disturbance	HP:0040282	ORPHA:320360
4508	MT-ATP6	HP:0001288	Gait disturbance	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0001285	Spastic tetraparesis	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0001254	Lethargy	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0001250	Seizure	-	OMIM:551500
4508	MT-ATP6	HP:0001250	Seizure	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0001250	Seizure	HP:0040282	ORPHA:254913
4508	MT-ATP6	HP:0001250	Seizure	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0001252	Hypotonia	HP:0040282	ORPHA:254913
4508	MT-ATP6	HP:0001251	Ataxia	-	OMIM:551500
4508	MT-ATP6	HP:0001251	Ataxia	HP:0040283	ORPHA:104
4508	MT-ATP6	HP:0001251	Ataxia	-	OMIM:535000
4508	MT-ATP6	HP:0001251	Ataxia	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0001251	Ataxia	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0001251	Ataxia	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0001251	Ataxia	HP:0040282	ORPHA:254913
4508	MT-ATP6	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0001260	Dysarthria	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0001260	Dysarthria	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0001263	Global developmental delay	-	OMIM:551500
4508	MT-ATP6	HP:0001263	Global developmental delay	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0001258	Spastic paraplegia	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0001257	Spasticity	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0001257	Spasticity	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0002572	Episodic vomiting	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:225154
4508	MT-ATP6	HP:0003829	Typified by incomplete penetrance	-	OMIM:535000
4508	MT-ATP6	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:225154
4508	MT-ATP6	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0000091	Abnormal renal tubule morphology	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0001399	Hepatic failure	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:320360
4508	MT-ATP6	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0001332	Dystonia	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0001332	Dystonia	-	OMIM:535000
4508	MT-ATP6	HP:0001332	Dystonia	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0001332	Dystonia	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0001324	Muscle weakness	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0001324	Muscle weakness	HP:0040282	ORPHA:254913
4508	MT-ATP6	HP:0001336	Myoclonus	HP:0040283	ORPHA:225154
4508	MT-ATP6	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:320360
4508	MT-ATP6	HP:0000135	Hypogonadism	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0007688	Undetectable light- and dark-adapted electroretinogram	HP:0040283	ORPHA:225154
4508	MT-ATP6	HP:0008969	Leg muscle stiffness	HP:0040283	ORPHA:320360
4508	MT-ATP6	HP:0008947	Floppy infant	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0008947	Floppy infant	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0001427	Mitochondrial inheritance	-	OMIM:551500
4508	MT-ATP6	HP:0001427	Mitochondrial inheritance	-	OMIM:535000
4508	MT-ATP6	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:225154
4508	MT-ATP6	HP:0003348	Hyperalaninemia	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0003348	Hyperalaninemia	HP:0040282	ORPHA:254913
4508	MT-ATP6	HP:0002015	Dysphagia	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0002015	Dysphagia	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0002098	Respiratory distress	HP:0040282	ORPHA:254913
4508	MT-ATP6	HP:0002094	Dyspnea	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0002066	Gait ataxia	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0002066	Gait ataxia	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0003394	Muscle spasm	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0002063	Rigidity	HP:0040283	ORPHA:225154
4508	MT-ATP6	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:320360
4508	MT-ATP6	HP:0002072	Chorea	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0002045	Hypothermia	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:320360
4508	MT-ATP6	HP:0003487	Babinski sign	HP:0040283	ORPHA:320360
4508	MT-ATP6	HP:0003487	Babinski sign	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0003487	Babinski sign	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:225154
4508	MT-ATP6	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0002151	Increased circulating lactate concentration	-	ORPHA:320360
4508	MT-ATP6	HP:0003481	Segmental peripheral demyelination/remyelination	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0002104	Apnea	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040281	ORPHA:320360
4508	MT-ATP6	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0002174	Postural tremor	HP:0040283	ORPHA:104
4508	MT-ATP6	HP:0002174	Postural tremor	-	OMIM:535000
4508	MT-ATP6	HP:0002273	Tetraparesis	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0003572	Low plasma citrulline	HP:0040284	ORPHA:255210
4508	MT-ATP6	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0004885	Episodic respiratory distress	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0003535	3-Methylglutaconic aciduria	HP:0040282	ORPHA:254913
4508	MT-ATP6	HP:0200125	Mitochondrial respiratory chain defects	HP:0040281	ORPHA:104
4508	MT-ATP6	HP:0007020	Progressive spastic paraplegia	HP:0040281	ORPHA:320360
4508	MT-ATP6	HP:0032036	Reduced contrast sensitivity	HP:0040283	ORPHA:104
4508	MT-ATP6	HP:0008316	Abnormal mitochondria in muscle tissue	-	ORPHA:644
4508	MT-ATP6	HP:0002396	Cogwheel rigidity	HP:0040283	ORPHA:225154
4508	MT-ATP6	HP:0002359	Frequent falls	HP:0040283	ORPHA:225154
4508	MT-ATP6	HP:0002376	Developmental regression	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0002376	Developmental regression	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0003648	Lacticaciduria	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0002315	Headache	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0100660	Dyskinesia	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:254913
4508	MT-ATP6	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:104
4508	MT-ATP6	HP:0100611	Multiple glomerular cysts	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0020120	Retinal nerve fiber edema	HP:0040283	ORPHA:104
4508	MT-ATP6	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0007117	Corticospinal tract atrophy	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0007117	Corticospinal tract atrophy	-	OMIM:551500
4508	MT-ATP6	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0007183	Focal T2 hyperintense basal ganglia lesion	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0000639	Nystagmus	-	OMIM:551500
4508	MT-ATP6	HP:0000639	Nystagmus	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0000639	Nystagmus	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0000639	Nystagmus	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:104
4508	MT-ATP6	HP:0000648	Optic atrophy	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0000648	Optic atrophy	HP:0040282	ORPHA:104
4508	MT-ATP6	HP:0000648	Optic atrophy	-	OMIM:535000
4508	MT-ATP6	HP:0000648	Optic atrophy	-	ORPHA:320360
4508	MT-ATP6	HP:0000648	Optic atrophy	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0000648	Optic atrophy	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0000618	Blindness	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0000618	Blindness	-	OMIM:551500
4508	MT-ATP6	HP:0000618	Blindness	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0001945	Fever	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0000622	Blurred vision	HP:0040282	ORPHA:104
4508	MT-ATP6	HP:0000602	Ophthalmoplegia	HP:0040284	ORPHA:254913
4508	MT-ATP6	HP:0000603	Central scotoma	HP:0040282	ORPHA:104
4508	MT-ATP6	HP:0012697	Small basal ganglia	HP:0040283	ORPHA:225154
4508	MT-ATP6	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:320360
4508	MT-ATP6	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:254913
4508	MT-ATP6	HP:0004322	Short stature	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0004322	Short stature	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0004309	Ventricular preexcitation	HP:0040283	ORPHA:104
4508	MT-ATP6	HP:0006999	Basal ganglia gliosis	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0012751	Abnormal basal ganglia MRI signal intensity	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0000763	Sensory neuropathy	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0000763	Sensory neuropathy	-	OMIM:551500
4508	MT-ATP6	HP:0000737	Irritability	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0000726	Dementia	-	OMIM:551500
4508	MT-ATP6	HP:0000726	Dementia	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0030588	Abnormal visual field test	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:254913
4508	MT-ATP6	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0003198	Myopathy	-	OMIM:551500
4508	MT-ATP6	HP:0003198	Myopathy	HP:0040283	ORPHA:104
4508	MT-ATP6	HP:0003198	Myopathy	-	OMIM:535000
4508	MT-ATP6	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:254913
4508	MT-ATP6	HP:0012841	Retinal vascular tortuosity	HP:0040282	ORPHA:104
4508	MT-ATP6	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:320360
4508	MT-ATP6	HP:0000816	Abnormality of Krebs cycle metabolism	HP:0040281	ORPHA:255210
4508	MT-ATP6	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0003200	Ragged-red muscle fibers	HP:0040284	ORPHA:255210
4508	MT-ATP6	HP:0011675	Arrhythmia	HP:0040282	ORPHA:254913
4508	MT-ATP6	HP:0011675	Arrhythmia	HP:0040283	ORPHA:104
4508	MT-ATP6	HP:0011675	Arrhythmia	-	OMIM:535000
4508	MT-ATP6	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:320360
4508	MT-ATP6	HP:0007763	Retinal telangiectasia	HP:0040282	ORPHA:104
4508	MT-ATP6	HP:0007768	Central retinal vessel vascular tortuosity	-	OMIM:535000
4508	MT-ATP6	HP:0000252	Microcephaly	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0002883	Hyperventilation	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0001508	Failure to thrive	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0001508	Failure to thrive	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0007814	Retinal pigment epithelial mottling	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0007814	Retinal pigment epithelial mottling	-	OMIM:551500
4508	MT-ATP6	HP:0007811	Horizontal pendular nystagmus	HP:0040282	ORPHA:225154
4508	MT-ATP6	HP:0000365	Hearing impairment	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0031434	Abnormal prosody	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0032794	Myoclonic seizure	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:254913
4508	MT-ATP6	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:254913
4508	MT-ATP6	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:320360
4508	MT-ATP6	HP:0007924	Slow decrease in visual acuity	HP:0040281	ORPHA:104
4508	MT-ATP6	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0000486	Strabismus	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0012469	Infantile spasms	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0000488	Retinopathy	-	OMIM:551500
4508	MT-ATP6	HP:0006799	Basal ganglia cysts	HP:0040283	ORPHA:225154
4508	MT-ATP6	HP:0000518	Cataract	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:255210
4508	MT-ATP6	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0000510	Rod-cone dystrophy	-	OMIM:551500
4508	MT-ATP6	HP:0000510	Rod-cone dystrophy	HP:0040282	ORPHA:644
4508	MT-ATP6	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:104
4508	MT-ATP6	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:104
4508	MT-ATP6	HP:0000508	Ptosis	HP:0040283	ORPHA:254913
4508	MT-ATP6	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:255210
4508	MT-ATP6	HP:0000576	Centrocecal scotoma	-	OMIM:535000
4508	MT-ATP6	HP:0000576	Centrocecal scotoma	HP:0040282	ORPHA:104
4508	MT-ATP6	HP:0000572	Visual loss	-	OMIM:535000
4508	MT-ATP6	HP:0000551	Color vision defect	HP:0040283	ORPHA:104
4508	MT-ATP6	HP:0012514	Lower limb pain	HP:0040281	ORPHA:320360
4508	MT-ATP6	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:644
4509	MT-ATP8	HP:0002445	Tetraplegia	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0001298	Encephalopathy	HP:0040282	ORPHA:254913
4509	MT-ATP8	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0001270	Motor delay	HP:0040282	ORPHA:254913
4509	MT-ATP8	HP:0001254	Lethargy	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0001250	Seizure	HP:0040282	ORPHA:254913
4509	MT-ATP8	HP:0001252	Hypotonia	HP:0040282	ORPHA:254913
4509	MT-ATP8	HP:0001252	Hypotonia	HP:0040282	ORPHA:480
4509	MT-ATP8	HP:0001251	Ataxia	HP:0040282	ORPHA:480
4509	MT-ATP8	HP:0001251	Ataxia	HP:0040282	ORPHA:254913
4509	MT-ATP8	HP:0001260	Dysarthria	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0001258	Spastic paraplegia	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0001332	Dystonia	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0001324	Muscle weakness	HP:0040283	ORPHA:480
4509	MT-ATP8	HP:0001324	Muscle weakness	HP:0040282	ORPHA:254913
4509	MT-ATP8	HP:0001337	Tremor	HP:0040283	ORPHA:480
4509	MT-ATP8	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:480
4509	MT-ATP8	HP:0000135	Hypogonadism	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:480
4509	MT-ATP8	HP:0003348	Hyperalaninemia	HP:0040282	ORPHA:254913
4509	MT-ATP8	HP:0002015	Dysphagia	HP:0040283	ORPHA:480
4509	MT-ATP8	HP:0004622	Progressive intervertebral space narrowing	HP:0040282	ORPHA:480
4509	MT-ATP8	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:480
4509	MT-ATP8	HP:0002098	Respiratory distress	HP:0040282	ORPHA:254913
4509	MT-ATP8	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0003457	EMG abnormality	HP:0040282	ORPHA:480
4509	MT-ATP8	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:480
4509	MT-ATP8	HP:0003535	3-Methylglutaconic aciduria	HP:0040282	ORPHA:254913
4509	MT-ATP8	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:254913
4509	MT-ATP8	HP:0012622	Chronic kidney disease	HP:0040283	ORPHA:480
4509	MT-ATP8	HP:0000639	Nystagmus	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0000648	Optic atrophy	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0001947	Renal tubular acidosis	HP:0040283	ORPHA:480
4509	MT-ATP8	HP:0000618	Blindness	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0000602	Ophthalmoplegia	HP:0040284	ORPHA:254913
4509	MT-ATP8	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:254913
4509	MT-ATP8	HP:0004322	Short stature	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0004322	Short stature	HP:0040283	ORPHA:480
4509	MT-ATP8	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:480
4509	MT-ATP8	HP:0000726	Dementia	HP:0040283	ORPHA:480
4509	MT-ATP8	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:254913
4509	MT-ATP8	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:254913
4509	MT-ATP8	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:480
4509	MT-ATP8	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:480
4509	MT-ATP8	HP:0000829	Hypoparathyroidism	HP:0040283	ORPHA:480
4509	MT-ATP8	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0000823	Delayed puberty	HP:0040283	ORPHA:480
4509	MT-ATP8	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:480
4509	MT-ATP8	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:480
4509	MT-ATP8	HP:0011675	Arrhythmia	HP:0040282	ORPHA:254913
4509	MT-ATP8	HP:0000252	Microcephaly	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:480
4509	MT-ATP8	HP:0000365	Hearing impairment	HP:0040282	ORPHA:480
4509	MT-ATP8	HP:0032794	Myoclonic seizure	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:254913
4509	MT-ATP8	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:254913
4509	MT-ATP8	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:480
4509	MT-ATP8	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0001709	Third degree atrioventricular block	HP:0040281	ORPHA:480
4509	MT-ATP8	HP:0000486	Strabismus	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:480
4509	MT-ATP8	HP:0000518	Cataract	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0000508	Ptosis	HP:0040282	ORPHA:480
4509	MT-ATP8	HP:0000508	Ptosis	HP:0040283	ORPHA:254913
4509	MT-ATP8	HP:0000580	Pigmentary retinopathy	HP:0040281	ORPHA:480
4509	MT-ATP8	HP:0000590	Progressive external ophthalmoplegia	HP:0040281	ORPHA:480
4511	MT-TC	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:540000
4511	MT-TC	HP:0003737	Mitochondrial myopathy	-	OMIM:540000
4511	MT-TC	HP:0002401	Stroke-like episode	-	OMIM:540000
4511	MT-TC	HP:0001298	Encephalopathy	-	OMIM:540000
4511	MT-TC	HP:0001269	Hemiparesis	-	OMIM:540000
4511	MT-TC	HP:0002572	Episodic vomiting	-	OMIM:540000
4511	MT-TC	HP:0003828	Variable expressivity	-	OMIM:540000
4511	MT-TC	HP:0001427	Mitochondrial inheritance	-	OMIM:540000
4511	MT-TC	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:540000
4511	MT-TC	HP:0002076	Migraine	-	OMIM:540000
4511	MT-TC	HP:0100704	Cerebral visual impairment	-	OMIM:540000
4511	MT-TC	HP:0000602	Ophthalmoplegia	-	OMIM:540000
4511	MT-TC	HP:0000726	Dementia	-	OMIM:540000
4511	MT-TC	HP:0003198	Myopathy	-	OMIM:540000
4511	MT-TC	HP:0003128	Lactic acidosis	-	OMIM:540000
4511	MT-TC	HP:0000819	Diabetes mellitus	-	OMIM:540000
4511	MT-TC	HP:0000822	Hypertension	-	OMIM:540000
4511	MT-TC	HP:0003200	Ragged-red muscle fibers	-	OMIM:540000
4511	MT-TC	HP:0011675	Arrhythmia	-	OMIM:540000
4511	MT-TC	HP:0001507	Growth abnormality	-	OMIM:540000
4511	MT-TC	HP:0012377	Hemianopia	-	OMIM:540000
4511	MT-TC	HP:0005162	Abnormal left ventricular function	-	OMIM:540000
4511	MT-TC	HP:0001635	Congestive heart failure	-	OMIM:540000
4511	MT-TC	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:540000
4511	MT-TC	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:540000
4511	MT-TC	HP:0001712	Left ventricular hypertrophy	-	OMIM:540000
4511	MT-TC	HP:0000519	Developmental cataract	-	OMIM:540000
4512	MT-CO1	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0010969	Abnormality of glycolipid metabolism	HP:0040282	ORPHA:99845
4512	MT-CO1	HP:0007327	Mixed demyelinating and axonal polyneuropathy	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:540000
4512	MT-CO1	HP:0003738	Exercise-induced myalgia	HP:0040282	ORPHA:99845
4512	MT-CO1	HP:0003737	Mitochondrial myopathy	-	OMIM:540000
4512	MT-CO1	HP:0002401	Stroke-like episode	-	OMIM:540000
4512	MT-CO1	HP:0002401	Stroke-like episode	HP:0040281	ORPHA:550
4512	MT-CO1	HP:0001298	Encephalopathy	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0001298	Encephalopathy	-	OMIM:540000
4512	MT-CO1	HP:0025268	Stuttering	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0001270	Motor delay	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0001269	Hemiparesis	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0001269	Hemiparesis	-	OMIM:540000
4512	MT-CO1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:99845
4512	MT-CO1	HP:0001250	Seizure	HP:0040281	ORPHA:550
4512	MT-CO1	HP:0001251	Ataxia	HP:0040283	ORPHA:104
4512	MT-CO1	HP:0001251	Ataxia	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0002572	Episodic vomiting	-	OMIM:540000
4512	MT-CO1	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:99845
4512	MT-CO1	HP:0003828	Variable expressivity	-	OMIM:540000
4512	MT-CO1	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:99845
4512	MT-CO1	HP:0000097	Focal segmental glomerulosclerosis	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0000093	Proteinuria	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:550
4512	MT-CO1	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:550
4512	MT-CO1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:99845
4512	MT-CO1	HP:0001336	Myoclonus	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:99845
4512	MT-CO1	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:99845
4512	MT-CO1	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040283	ORPHA:99845
4512	MT-CO1	HP:0000114	Proximal tubulopathy	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0001427	Mitochondrial inheritance	-	OMIM:540000
4512	MT-CO1	HP:0000112	Nephropathy	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0002019	Constipation	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0040319	Dark urine	HP:0040281	ORPHA:99845
4512	MT-CO1	HP:0002014	Diarrhea	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0002013	Vomiting	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:540000
4512	MT-CO1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0003394	Muscle spasm	HP:0040283	ORPHA:99845
4512	MT-CO1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0002076	Migraine	HP:0040281	ORPHA:550
4512	MT-CO1	HP:0002076	Migraine	-	OMIM:540000
4512	MT-CO1	HP:0100520	Oliguria	HP:0040283	ORPHA:99845
4512	MT-CO1	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0002153	Hyperkalemia	HP:0040283	ORPHA:99845
4512	MT-CO1	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:550
4512	MT-CO1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:99845
4512	MT-CO1	HP:0002174	Postural tremor	HP:0040283	ORPHA:104
4512	MT-CO1	HP:0100704	Cerebral visual impairment	-	OMIM:540000
4512	MT-CO1	HP:0003554	Type 2 muscle fiber atrophy	HP:0040282	ORPHA:99845
4512	MT-CO1	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0003558	Viral infection-induced rhabdomyolysis	HP:0040282	ORPHA:99845
4512	MT-CO1	HP:0200125	Mitochondrial respiratory chain defects	HP:0040281	ORPHA:104
4512	MT-CO1	HP:0032036	Reduced contrast sensitivity	HP:0040283	ORPHA:104
4512	MT-CO1	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:550
4512	MT-CO1	HP:0008305	Exercise-induced myoglobinuria	HP:0040282	ORPHA:99845
4512	MT-CO1	HP:0007067	Distal peripheral sensory neuropathy	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0002381	Aphasia	HP:0040281	ORPHA:550
4512	MT-CO1	HP:0001045	Vitiligo	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:550
4512	MT-CO1	HP:0002354	Memory impairment	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0003652	Recurrent myoglobinuria	HP:0040280	ORPHA:99845
4512	MT-CO1	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:104
4512	MT-CO1	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0100614	Myositis	HP:0040282	ORPHA:99845
4512	MT-CO1	HP:0020120	Retinal nerve fiber edema	HP:0040283	ORPHA:104
4512	MT-CO1	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0007159	Fluctuations in consciousness	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0010783	Erythema	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0005521	Disseminated intravascular coagulation	HP:0040284	ORPHA:99845
4512	MT-CO1	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:104
4512	MT-CO1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:104
4512	MT-CO1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0001945	Fever	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0001945	Fever	HP:0040281	ORPHA:99845
4512	MT-CO1	HP:0000622	Blurred vision	HP:0040282	ORPHA:104
4512	MT-CO1	HP:0000602	Ophthalmoplegia	-	OMIM:540000
4512	MT-CO1	HP:0000603	Central scotoma	HP:0040282	ORPHA:104
4512	MT-CO1	HP:0001903	Anemia	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:99845
4512	MT-CO1	HP:0004322	Short stature	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0004309	Ventricular preexcitation	HP:0040283	ORPHA:104
4512	MT-CO1	HP:0004389	Intestinal pseudo-obstruction	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0000751	Personality changes	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0100027	Recurrent pancreatitis	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0000739	Anxiety	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0000736	Short attention span	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0012707	Elevated brain lactate level by MRS	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0000716	Depression	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0000726	Dementia	-	OMIM:540000
4512	MT-CO1	HP:0000726	Dementia	HP:0040281	ORPHA:550
4512	MT-CO1	HP:0000709	Psychosis	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0012766	Widened cerebral subarachnoid space	HP:0040281	ORPHA:550
4512	MT-CO1	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0003198	Myopathy	-	OMIM:540000
4512	MT-CO1	HP:0003198	Myopathy	HP:0040283	ORPHA:104
4512	MT-CO1	HP:0003198	Myopathy	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0003128	Lactic acidosis	-	OMIM:540000
4512	MT-CO1	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:550
4512	MT-CO1	HP:0012841	Retinal vascular tortuosity	HP:0040282	ORPHA:104
4512	MT-CO1	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0000819	Diabetes mellitus	-	OMIM:540000
4512	MT-CO1	HP:0000829	Hypoparathyroidism	HP:0040284	ORPHA:550
4512	MT-CO1	HP:0000822	Hypertension	-	OMIM:540000
4512	MT-CO1	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:550
4512	MT-CO1	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:550
4512	MT-CO1	HP:0003200	Ragged-red muscle fibers	-	OMIM:540000
4512	MT-CO1	HP:0045037	Abnormality of jaw muscles	HP:0040283	ORPHA:99845
4512	MT-CO1	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0011675	Arrhythmia	-	OMIM:540000
4512	MT-CO1	HP:0011675	Arrhythmia	HP:0040283	ORPHA:104
4512	MT-CO1	HP:0011675	Arrhythmia	HP:0040283	ORPHA:99845
4512	MT-CO1	HP:0007763	Retinal telangiectasia	HP:0040282	ORPHA:104
4512	MT-CO1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0001507	Growth abnormality	-	OMIM:540000
4512	MT-CO1	HP:0012377	Hemianopia	-	OMIM:540000
4512	MT-CO1	HP:0005216	Impaired mastication	HP:0040283	ORPHA:99845
4512	MT-CO1	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040283	ORPHA:99845
4512	MT-CO1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:99845
4512	MT-CO1	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0002905	Hyperphosphatemia	HP:0040283	ORPHA:99845
4512	MT-CO1	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:99845
4512	MT-CO1	HP:0005157	Concentric hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0005162	Abnormal left ventricular function	-	OMIM:540000
4512	MT-CO1	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0001635	Congestive heart failure	-	OMIM:540000
4512	MT-CO1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0007924	Slow decrease in visual acuity	HP:0040281	ORPHA:104
4512	MT-CO1	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:540000
4512	MT-CO1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:540000
4512	MT-CO1	HP:0001716	Wolff-Parkinson-White syndrome	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0001712	Left ventricular hypertrophy	-	OMIM:540000
4512	MT-CO1	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0030234	Highly elevated creatine kinase	HP:0040281	ORPHA:99845
4512	MT-CO1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:99845
4512	MT-CO1	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	HP:0040281	ORPHA:550
4512	MT-CO1	HP:0000519	Developmental cataract	-	OMIM:540000
4512	MT-CO1	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:104
4512	MT-CO1	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:104
4512	MT-CO1	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0000576	Centrocecal scotoma	HP:0040282	ORPHA:104
4512	MT-CO1	HP:0000590	Progressive external ophthalmoplegia	HP:0040283	ORPHA:550
4512	MT-CO1	HP:0012544	Elevated circulating aldolase concentration	HP:0040282	ORPHA:99845
4512	MT-CO1	HP:0000572	Visual loss	HP:0040282	ORPHA:550
4512	MT-CO1	HP:0000551	Color vision defect	HP:0040283	ORPHA:104
4513	MT-CO2	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0007327	Mixed demyelinating and axonal polyneuropathy	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:540000
4513	MT-CO2	HP:0003737	Mitochondrial myopathy	-	OMIM:540000
4513	MT-CO2	HP:0002401	Stroke-like episode	-	OMIM:540000
4513	MT-CO2	HP:0002401	Stroke-like episode	HP:0040281	ORPHA:550
4513	MT-CO2	HP:0001298	Encephalopathy	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0001298	Encephalopathy	-	OMIM:540000
4513	MT-CO2	HP:0025268	Stuttering	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0001270	Motor delay	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0001269	Hemiparesis	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0001269	Hemiparesis	-	OMIM:540000
4513	MT-CO2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0001250	Seizure	HP:0040281	ORPHA:550
4513	MT-CO2	HP:0001251	Ataxia	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0002572	Episodic vomiting	-	OMIM:540000
4513	MT-CO2	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0003828	Variable expressivity	-	OMIM:540000
4513	MT-CO2	HP:0000097	Focal segmental glomerulosclerosis	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0000093	Proteinuria	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:550
4513	MT-CO2	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:550
4513	MT-CO2	HP:0001336	Myoclonus	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0000114	Proximal tubulopathy	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0001427	Mitochondrial inheritance	-	OMIM:540000
4513	MT-CO2	HP:0000112	Nephropathy	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0002019	Constipation	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0002014	Diarrhea	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0002013	Vomiting	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:540000
4513	MT-CO2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0002076	Migraine	HP:0040281	ORPHA:550
4513	MT-CO2	HP:0002076	Migraine	-	OMIM:540000
4513	MT-CO2	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:550
4513	MT-CO2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0100704	Cerebral visual impairment	-	OMIM:540000
4513	MT-CO2	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:550
4513	MT-CO2	HP:0007067	Distal peripheral sensory neuropathy	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0002381	Aphasia	HP:0040281	ORPHA:550
4513	MT-CO2	HP:0001045	Vitiligo	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:550
4513	MT-CO2	HP:0002354	Memory impairment	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0007159	Fluctuations in consciousness	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0010783	Erythema	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0001945	Fever	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0000602	Ophthalmoplegia	-	OMIM:540000
4513	MT-CO2	HP:0001903	Anemia	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0004322	Short stature	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0004389	Intestinal pseudo-obstruction	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0000751	Personality changes	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0100027	Recurrent pancreatitis	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0000739	Anxiety	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0000736	Short attention span	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0012707	Elevated brain lactate level by MRS	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0000716	Depression	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0000726	Dementia	-	OMIM:540000
4513	MT-CO2	HP:0000726	Dementia	HP:0040281	ORPHA:550
4513	MT-CO2	HP:0000709	Psychosis	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0012766	Widened cerebral subarachnoid space	HP:0040281	ORPHA:550
4513	MT-CO2	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0003198	Myopathy	-	OMIM:540000
4513	MT-CO2	HP:0003198	Myopathy	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0003128	Lactic acidosis	-	OMIM:540000
4513	MT-CO2	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:550
4513	MT-CO2	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0000819	Diabetes mellitus	-	OMIM:540000
4513	MT-CO2	HP:0000829	Hypoparathyroidism	HP:0040284	ORPHA:550
4513	MT-CO2	HP:0000822	Hypertension	-	OMIM:540000
4513	MT-CO2	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:550
4513	MT-CO2	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:550
4513	MT-CO2	HP:0003200	Ragged-red muscle fibers	-	OMIM:540000
4513	MT-CO2	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0011675	Arrhythmia	-	OMIM:540000
4513	MT-CO2	HP:0001508	Failure to thrive	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0001507	Growth abnormality	-	OMIM:540000
4513	MT-CO2	HP:0012377	Hemianopia	-	OMIM:540000
4513	MT-CO2	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0005157	Concentric hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0005162	Abnormal left ventricular function	-	OMIM:540000
4513	MT-CO2	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0001635	Congestive heart failure	-	OMIM:540000
4513	MT-CO2	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:540000
4513	MT-CO2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:550
4513	MT-CO2	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:540000
4513	MT-CO2	HP:0001716	Wolff-Parkinson-White syndrome	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0001712	Left ventricular hypertrophy	-	OMIM:540000
4513	MT-CO2	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	HP:0040281	ORPHA:550
4513	MT-CO2	HP:0000519	Developmental cataract	-	OMIM:540000
4513	MT-CO2	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0000590	Progressive external ophthalmoplegia	HP:0040283	ORPHA:550
4513	MT-CO2	HP:0000572	Visual loss	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0001138	Optic neuropathy	HP:0040282	OMIM:535000
4514	MT-CO3	HP:0001112	Leber optic atrophy	-	OMIM:535000
4514	MT-CO3	HP:0010969	Abnormality of glycolipid metabolism	HP:0040282	ORPHA:99845
4514	MT-CO3	HP:0007327	Mixed demyelinating and axonal polyneuropathy	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:540000
4514	MT-CO3	HP:0003738	Exercise-induced myalgia	HP:0040282	ORPHA:99845
4514	MT-CO3	HP:0003737	Mitochondrial myopathy	-	OMIM:540000
4514	MT-CO3	HP:0002401	Stroke-like episode	-	OMIM:540000
4514	MT-CO3	HP:0002401	Stroke-like episode	HP:0040281	ORPHA:550
4514	MT-CO3	HP:0001298	Encephalopathy	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0001298	Encephalopathy	-	OMIM:540000
4514	MT-CO3	HP:0025268	Stuttering	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0001271	Polyneuropathy	-	OMIM:535000
4514	MT-CO3	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0001270	Motor delay	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0001269	Hemiparesis	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0001269	Hemiparesis	-	OMIM:540000
4514	MT-CO3	HP:0001288	Gait disturbance	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0001288	Gait disturbance	HP:0040283	ORPHA:99845
4514	MT-CO3	HP:0001250	Seizure	HP:0040281	ORPHA:550
4514	MT-CO3	HP:0001251	Ataxia	HP:0040283	ORPHA:104
4514	MT-CO3	HP:0001251	Ataxia	-	OMIM:535000
4514	MT-CO3	HP:0001251	Ataxia	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0001263	Global developmental delay	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0002572	Episodic vomiting	-	OMIM:540000
4514	MT-CO3	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:99845
4514	MT-CO3	HP:0003828	Variable expressivity	-	OMIM:540000
4514	MT-CO3	HP:0003829	Typified by incomplete penetrance	-	OMIM:535000
4514	MT-CO3	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:99845
4514	MT-CO3	HP:0000097	Focal segmental glomerulosclerosis	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0000093	Proteinuria	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:550
4514	MT-CO3	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0001332	Dystonia	-	OMIM:535000
4514	MT-CO3	HP:0001328	Specific learning disability	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0001324	Muscle weakness	HP:0040281	ORPHA:550
4514	MT-CO3	HP:0001324	Muscle weakness	HP:0040281	ORPHA:99845
4514	MT-CO3	HP:0001336	Myoclonus	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:99845
4514	MT-CO3	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:99845
4514	MT-CO3	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040283	ORPHA:99845
4514	MT-CO3	HP:0000114	Proximal tubulopathy	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0001427	Mitochondrial inheritance	-	OMIM:540000
4514	MT-CO3	HP:0001427	Mitochondrial inheritance	-	OMIM:535000
4514	MT-CO3	HP:0000112	Nephropathy	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0002019	Constipation	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0040319	Dark urine	HP:0040281	ORPHA:99845
4514	MT-CO3	HP:0002014	Diarrhea	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0002013	Vomiting	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:540000
4514	MT-CO3	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0003394	Muscle spasm	HP:0040283	ORPHA:99845
4514	MT-CO3	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0002076	Migraine	HP:0040281	ORPHA:550
4514	MT-CO3	HP:0002076	Migraine	-	OMIM:540000
4514	MT-CO3	HP:0100520	Oliguria	HP:0040283	ORPHA:99845
4514	MT-CO3	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0002153	Hyperkalemia	HP:0040283	ORPHA:99845
4514	MT-CO3	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:550
4514	MT-CO3	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:99845
4514	MT-CO3	HP:0002174	Postural tremor	HP:0040283	ORPHA:104
4514	MT-CO3	HP:0002174	Postural tremor	-	OMIM:535000
4514	MT-CO3	HP:0100704	Cerebral visual impairment	-	OMIM:540000
4514	MT-CO3	HP:0003554	Type 2 muscle fiber atrophy	HP:0040282	ORPHA:99845
4514	MT-CO3	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0003558	Viral infection-induced rhabdomyolysis	HP:0040282	ORPHA:99845
4514	MT-CO3	HP:0200125	Mitochondrial respiratory chain defects	HP:0040281	ORPHA:104
4514	MT-CO3	HP:0032036	Reduced contrast sensitivity	HP:0040283	ORPHA:104
4514	MT-CO3	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:550
4514	MT-CO3	HP:0008305	Exercise-induced myoglobinuria	HP:0040282	ORPHA:99845
4514	MT-CO3	HP:0007067	Distal peripheral sensory neuropathy	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0002381	Aphasia	HP:0040281	ORPHA:550
4514	MT-CO3	HP:0001045	Vitiligo	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0002353	EEG abnormality	HP:0040281	ORPHA:550
4514	MT-CO3	HP:0002354	Memory impairment	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0003652	Recurrent myoglobinuria	HP:0040280	ORPHA:99845
4514	MT-CO3	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:104
4514	MT-CO3	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0100614	Myositis	HP:0040282	ORPHA:99845
4514	MT-CO3	HP:0020120	Retinal nerve fiber edema	HP:0040283	ORPHA:104
4514	MT-CO3	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0007159	Fluctuations in consciousness	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0010783	Erythema	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0005521	Disseminated intravascular coagulation	HP:0040284	ORPHA:99845
4514	MT-CO3	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:104
4514	MT-CO3	HP:0000648	Optic atrophy	HP:0040282	ORPHA:104
4514	MT-CO3	HP:0000648	Optic atrophy	-	OMIM:535000
4514	MT-CO3	HP:0000648	Optic atrophy	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0001945	Fever	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0001945	Fever	HP:0040281	ORPHA:99845
4514	MT-CO3	HP:0000622	Blurred vision	HP:0040282	ORPHA:104
4514	MT-CO3	HP:0000602	Ophthalmoplegia	-	OMIM:540000
4514	MT-CO3	HP:0000603	Central scotoma	HP:0040282	ORPHA:104
4514	MT-CO3	HP:0001903	Anemia	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:99845
4514	MT-CO3	HP:0004322	Short stature	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0004309	Ventricular preexcitation	HP:0040283	ORPHA:104
4514	MT-CO3	HP:0004389	Intestinal pseudo-obstruction	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0000751	Personality changes	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0100027	Recurrent pancreatitis	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0000739	Anxiety	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0000736	Short attention span	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0012707	Elevated brain lactate level by MRS	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0000716	Depression	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0000726	Dementia	-	OMIM:540000
4514	MT-CO3	HP:0000726	Dementia	HP:0040281	ORPHA:550
4514	MT-CO3	HP:0000709	Psychosis	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0012766	Widened cerebral subarachnoid space	HP:0040281	ORPHA:550
4514	MT-CO3	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0003198	Myopathy	-	OMIM:540000
4514	MT-CO3	HP:0003198	Myopathy	HP:0040283	ORPHA:104
4514	MT-CO3	HP:0003198	Myopathy	-	OMIM:535000
4514	MT-CO3	HP:0003198	Myopathy	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0003128	Lactic acidosis	-	OMIM:540000
4514	MT-CO3	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:550
4514	MT-CO3	HP:0012841	Retinal vascular tortuosity	HP:0040282	ORPHA:104
4514	MT-CO3	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0000819	Diabetes mellitus	-	OMIM:540000
4514	MT-CO3	HP:0000829	Hypoparathyroidism	HP:0040284	ORPHA:550
4514	MT-CO3	HP:0000822	Hypertension	-	OMIM:540000
4514	MT-CO3	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:550
4514	MT-CO3	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:550
4514	MT-CO3	HP:0003200	Ragged-red muscle fibers	-	OMIM:540000
4514	MT-CO3	HP:0045037	Abnormality of jaw muscles	HP:0040283	ORPHA:99845
4514	MT-CO3	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0011675	Arrhythmia	-	OMIM:540000
4514	MT-CO3	HP:0011675	Arrhythmia	HP:0040283	ORPHA:104
4514	MT-CO3	HP:0011675	Arrhythmia	HP:0040283	ORPHA:99845
4514	MT-CO3	HP:0011675	Arrhythmia	-	OMIM:535000
4514	MT-CO3	HP:0007763	Retinal telangiectasia	HP:0040282	ORPHA:104
4514	MT-CO3	HP:0007768	Central retinal vessel vascular tortuosity	-	OMIM:535000
4514	MT-CO3	HP:0001508	Failure to thrive	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0001507	Growth abnormality	-	OMIM:540000
4514	MT-CO3	HP:0012377	Hemianopia	-	OMIM:540000
4514	MT-CO3	HP:0005216	Impaired mastication	HP:0040283	ORPHA:99845
4514	MT-CO3	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040283	ORPHA:99845
4514	MT-CO3	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:99845
4514	MT-CO3	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0002905	Hyperphosphatemia	HP:0040283	ORPHA:99845
4514	MT-CO3	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:99845
4514	MT-CO3	HP:0005157	Concentric hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0005162	Abnormal left ventricular function	-	OMIM:540000
4514	MT-CO3	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0001635	Congestive heart failure	-	OMIM:540000
4514	MT-CO3	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0007924	Slow decrease in visual acuity	HP:0040281	ORPHA:104
4514	MT-CO3	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:540000
4514	MT-CO3	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:540000
4514	MT-CO3	HP:0001716	Wolff-Parkinson-White syndrome	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0001712	Left ventricular hypertrophy	-	OMIM:540000
4514	MT-CO3	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0030234	Highly elevated creatine kinase	HP:0040281	ORPHA:99845
4514	MT-CO3	HP:0012444	Brain atrophy	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:99845
4514	MT-CO3	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	HP:0040281	ORPHA:550
4514	MT-CO3	HP:0000519	Developmental cataract	-	OMIM:540000
4514	MT-CO3	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:104
4514	MT-CO3	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:104
4514	MT-CO3	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0000576	Centrocecal scotoma	-	OMIM:535000
4514	MT-CO3	HP:0000576	Centrocecal scotoma	HP:0040282	ORPHA:104
4514	MT-CO3	HP:0000590	Progressive external ophthalmoplegia	HP:0040283	ORPHA:550
4514	MT-CO3	HP:0012544	Elevated circulating aldolase concentration	HP:0040282	ORPHA:99845
4514	MT-CO3	HP:0000572	Visual loss	HP:0040282	ORPHA:550
4514	MT-CO3	HP:0000572	Visual loss	-	OMIM:535000
4514	MT-CO3	HP:0000551	Color vision defect	HP:0040283	ORPHA:104
4519	MT-CYB	HP:0001138	Optic neuropathy	HP:0040282	OMIM:535000
4519	MT-CYB	HP:0001112	Leber optic atrophy	-	OMIM:535000
4519	MT-CYB	HP:0002438	Cerebellar malformation	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:540000
4519	MT-CYB	HP:0003737	Mitochondrial myopathy	-	OMIM:540000
4519	MT-CYB	HP:0002401	Stroke-like episode	-	OMIM:540000
4519	MT-CYB	HP:0002401	Stroke-like episode	HP:0040283	ORPHA:137675
4519	MT-CYB	HP:0001298	Encephalopathy	-	OMIM:540000
4519	MT-CYB	HP:0001271	Polyneuropathy	-	OMIM:535000
4519	MT-CYB	HP:0001274	Agenesis of corpus callosum	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0001269	Hemiparesis	-	OMIM:540000
4519	MT-CYB	HP:0001254	Lethargy	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0001250	Seizure	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0001251	Ataxia	HP:0040283	ORPHA:104
4519	MT-CYB	HP:0001251	Ataxia	-	OMIM:535000
4519	MT-CYB	HP:0002572	Episodic vomiting	-	OMIM:540000
4519	MT-CYB	HP:0003828	Variable expressivity	-	OMIM:540000
4519	MT-CYB	HP:0003829	Typified by incomplete penetrance	-	OMIM:535000
4519	MT-CYB	HP:0001332	Dystonia	-	OMIM:535000
4519	MT-CYB	HP:0000175	Cleft palate	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0000147	Polycystic ovaries	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0002789	Tachypnea	HP:0040283	ORPHA:137675
4519	MT-CYB	HP:0001427	Mitochondrial inheritance	-	OMIM:540000
4519	MT-CYB	HP:0001427	Mitochondrial inheritance	-	OMIM:535000
4519	MT-CYB	HP:0000107	Renal cyst	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0002013	Vomiting	HP:0040283	ORPHA:137675
4519	MT-CYB	HP:0005950	Laryngeal web	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:540000
4519	MT-CYB	HP:0002076	Migraine	-	OMIM:540000
4519	MT-CYB	HP:0011716	Junctional ectopic tachycardia	HP:0040283	ORPHA:137675
4519	MT-CYB	HP:0011712	Complete right bundle branch block	HP:0040283	ORPHA:137675
4519	MT-CYB	HP:0100598	Pulmonary edema	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0004756	Ventricular tachycardia	HP:0040282	ORPHA:137675
4519	MT-CYB	HP:0004755	Supraventricular tachycardia	HP:0040282	ORPHA:137675
4519	MT-CYB	HP:0004749	Atrial flutter	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0002174	Postural tremor	HP:0040283	ORPHA:104
4519	MT-CYB	HP:0002174	Postural tremor	-	OMIM:535000
4519	MT-CYB	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:137675
4519	MT-CYB	HP:0100704	Cerebral visual impairment	-	OMIM:540000
4519	MT-CYB	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:137675
4519	MT-CYB	HP:0200125	Mitochondrial respiratory chain defects	HP:0040281	ORPHA:104
4519	MT-CYB	HP:0032036	Reduced contrast sensitivity	HP:0040283	ORPHA:104
4519	MT-CYB	HP:0002329	Drowsiness	HP:0040283	ORPHA:137675
4519	MT-CYB	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:104
4519	MT-CYB	HP:0020120	Retinal nerve fiber edema	HP:0040283	ORPHA:104
4519	MT-CYB	HP:0002301	Hemiplegia	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0007185	Loss of consciousness	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:104
4519	MT-CYB	HP:0000648	Optic atrophy	HP:0040282	ORPHA:104
4519	MT-CYB	HP:0000648	Optic atrophy	-	OMIM:535000
4519	MT-CYB	HP:0000648	Optic atrophy	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0001943	Hypoglycemia	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0001945	Fever	HP:0040283	ORPHA:137675
4519	MT-CYB	HP:0000622	Blurred vision	HP:0040282	ORPHA:104
4519	MT-CYB	HP:0000602	Ophthalmoplegia	-	OMIM:540000
4519	MT-CYB	HP:0000603	Central scotoma	HP:0040282	ORPHA:104
4519	MT-CYB	HP:0001907	Thromboembolism	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0004309	Ventricular preexcitation	HP:0040283	ORPHA:104
4519	MT-CYB	HP:0012735	Cough	HP:0040283	ORPHA:137675
4519	MT-CYB	HP:0000726	Dementia	-	OMIM:540000
4519	MT-CYB	HP:0003198	Myopathy	-	OMIM:540000
4519	MT-CYB	HP:0003198	Myopathy	HP:0040283	ORPHA:104
4519	MT-CYB	HP:0003198	Myopathy	-	OMIM:535000
4519	MT-CYB	HP:0003128	Lactic acidosis	-	OMIM:540000
4519	MT-CYB	HP:0003128	Lactic acidosis	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0012841	Retinal vascular tortuosity	HP:0040282	ORPHA:104
4519	MT-CYB	HP:0000819	Diabetes mellitus	-	OMIM:540000
4519	MT-CYB	HP:0000822	Hypertension	-	OMIM:540000
4519	MT-CYB	HP:0003200	Ragged-red muscle fibers	-	OMIM:540000
4519	MT-CYB	HP:0000980	Pallor	HP:0040283	ORPHA:137675
4519	MT-CYB	HP:0000961	Cyanosis	HP:0040283	ORPHA:137675
4519	MT-CYB	HP:0011675	Arrhythmia	-	OMIM:540000
4519	MT-CYB	HP:0011675	Arrhythmia	HP:0040283	ORPHA:104
4519	MT-CYB	HP:0011675	Arrhythmia	-	OMIM:535000
4519	MT-CYB	HP:0007707	Congenital aphakia	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0005110	Atrial fibrillation	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0007763	Retinal telangiectasia	HP:0040282	ORPHA:104
4519	MT-CYB	HP:0007768	Central retinal vessel vascular tortuosity	-	OMIM:535000
4519	MT-CYB	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0001508	Failure to thrive	HP:0040283	ORPHA:137675
4519	MT-CYB	HP:0001507	Growth abnormality	-	OMIM:540000
4519	MT-CYB	HP:0012377	Hemianopia	-	OMIM:540000
4519	MT-CYB	HP:0005165	Shortened PR interval	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0005162	Abnormal left ventricular function	-	OMIM:540000
4519	MT-CYB	HP:0001678	Atrioventricular block	HP:0040283	ORPHA:137675
4519	MT-CYB	HP:0001649	Tachycardia	HP:0040281	ORPHA:137675
4519	MT-CYB	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:137675
4519	MT-CYB	HP:0001635	Congestive heart failure	-	OMIM:540000
4519	MT-CYB	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:137675
4519	MT-CYB	HP:0007957	Corneal opacity	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0007924	Slow decrease in visual acuity	HP:0040281	ORPHA:104
4519	MT-CYB	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:540000
4519	MT-CYB	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:540000
4519	MT-CYB	HP:0001716	Wolff-Parkinson-White syndrome	HP:0040283	ORPHA:137675
4519	MT-CYB	HP:0001712	Left ventricular hypertrophy	-	OMIM:540000
4519	MT-CYB	HP:0000485	Megalocornea	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0000519	Developmental cataract	-	OMIM:540000
4519	MT-CYB	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:104
4519	MT-CYB	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:104
4519	MT-CYB	HP:0000576	Centrocecal scotoma	-	OMIM:535000
4519	MT-CYB	HP:0000576	Centrocecal scotoma	HP:0040282	ORPHA:104
4519	MT-CYB	HP:0000572	Visual loss	-	OMIM:535000
4519	MT-CYB	HP:0000568	Microphthalmia	HP:0040284	ORPHA:137675
4519	MT-CYB	HP:0000551	Color vision defect	HP:0040283	ORPHA:104
4522	MTHFD1	HP:0001256	Intellectual disability, mild	1/1	OMIM:617780
4522	MTHFD1	HP:0001250	Seizure	1/1	OMIM:617780
4522	MTHFD1	HP:0010972	Anemia of inadequate production	-	OMIM:617780
4522	MTHFD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617780
4522	MTHFD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:601634
4522	MTHFD1	HP:0025435	Increased circulating lactate dehydrogenase concentration	2/2	OMIM:617780
4522	MTHFD1	HP:0025406	Asthenia	-	OMIM:617780
4522	MTHFD1	HP:0002719	Recurrent infections	-	OMIM:617780
4522	MTHFD1	HP:0002013	Vomiting	-	OMIM:617780
4522	MTHFD1	HP:0002160	Hyperhomocystinemia	1/1	OMIM:617780
4522	MTHFD1	HP:0003593	Infantile onset	1/1	OMIM:617780
4522	MTHFD1	HP:0004821	Hypersegmentation of neutrophil nuclei	1/1	OMIM:617780
4522	MTHFD1	HP:0001972	Macrocytic anemia	-	OMIM:617780
4522	MTHFD1	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:601634
4522	MTHFD1	HP:0004313	Decreased circulating immunoglobulin concentration	1/1	OMIM:617780
4522	MTHFD1	HP:0004430	Severe combined immunodeficiency	1/1	OMIM:617780
4522	MTHFD1	HP:0003095	Septic arthritis	-	OMIM:617780
4522	MTHFD1	HP:0003223	Decreased circulating methylcobalamin concentration	-	OMIM:617780
4522	MTHFD1	HP:0010301	Spinal dysraphism	-	OMIM:601634
4522	MTHFD1	HP:0000964	Eczematoid dermatitis	-	OMIM:617780
4522	MTHFD1	HP:0025517	Hypoplastic hippocampus	1/1	OMIM:617780
4522	MTHFD1	HP:0006532	Recurrent pneumonia	-	OMIM:617780
4522	MTHFD1	HP:0000365	Hearing impairment	-	OMIM:617780
4522	MTHFD1	HP:0002960	Autoimmunity	HP:0040284	OMIM:617780
4522	MTHFD1	HP:0001894	Thrombocytosis	-	OMIM:617780
4522	MTHFD1	HP:0001889	Megaloblastic anemia	1/1	OMIM:617780
4522	MTHFD1	HP:0001888	Decreased total lymphocyte count	1/1	OMIM:617780
4522	MTHFD1	HP:0001876	Pancytopenia	1/1	OMIM:617780
4524	MTHFR	HP:0002493	Upper motor neuron dysfunction	HP:0040281	ORPHA:395
4524	MTHFR	HP:0001298	Encephalopathy	HP:0040284	ORPHA:395
4524	MTHFR	HP:0001297	Stroke	HP:0040284	ORPHA:395
4524	MTHFR	HP:0001297	Stroke	-	OMIM:236250
4524	MTHFR	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:563612
4524	MTHFR	HP:0001269	Hemiparesis	HP:0040283	ORPHA:395
4524	MTHFR	HP:0001268	Mental deterioration	HP:0040282	ORPHA:395
4524	MTHFR	HP:0001288	Gait disturbance	HP:0040281	ORPHA:395
4524	MTHFR	HP:0001288	Gait disturbance	-	OMIM:236250
4524	MTHFR	HP:0001254	Lethargy	HP:0040283	ORPHA:395
4524	MTHFR	HP:0001250	Seizure	HP:0040282	ORPHA:395
4524	MTHFR	HP:0001250	Seizure	-	OMIM:236250
4524	MTHFR	HP:0001251	Ataxia	HP:0040282	ORPHA:395
4524	MTHFR	HP:0001249	Intellectual disability	HP:0040283	ORPHA:395
4524	MTHFR	HP:0001263	Global developmental delay	HP:0040283	ORPHA:395
4524	MTHFR	HP:0001263	Global developmental delay	-	OMIM:236250
4524	MTHFR	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:395
4524	MTHFR	HP:0410291	Negativism	-	OMIM:181500
4524	MTHFR	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:563612
4524	MTHFR	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:395
4524	MTHFR	HP:0007340	Lower limb muscle weakness	HP:0040281	ORPHA:395
4524	MTHFR	HP:0002518	Abnormal periventricular white matter morphology	HP:0040282	ORPHA:395
4524	MTHFR	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:395
4524	MTHFR	HP:0002683	Abnormal calvaria morphology	HP:0040282	ORPHA:563612
4524	MTHFR	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:395
4524	MTHFR	HP:0001360	Holoprosencephaly	HP:0040282	ORPHA:563612
4524	MTHFR	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:395
4524	MTHFR	HP:0001328	Specific learning disability	HP:0040283	ORPHA:395
4524	MTHFR	HP:0001324	Muscle weakness	-	OMIM:236250
4524	MTHFR	HP:0000007	Autosomal recessive inheritance	-	OMIM:236250
4524	MTHFR	HP:0000007	Autosomal recessive inheritance	-	OMIM:601634
4524	MTHFR	HP:0000006	Autosomal dominant inheritance	-	OMIM:188050
4524	MTHFR	HP:0000006	Autosomal dominant inheritance	-	OMIM:181500
4524	MTHFR	HP:0002625	Deep venous thrombosis	HP:0040283	ORPHA:395
4524	MTHFR	HP:0002625	Deep venous thrombosis	-	OMIM:188050
4524	MTHFR	HP:0410030	Cleft lip	HP:0040283	ORPHA:563609
4524	MTHFR	HP:0008935	Generalized neonatal hypotonia	HP:0040283	ORPHA:395
4524	MTHFR	HP:0002011	Morphological central nervous system abnormality	HP:0040281	ORPHA:395
4524	MTHFR	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:395
4524	MTHFR	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:395
4524	MTHFR	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:395
4524	MTHFR	HP:0011756	Posterior pituitary agenesis	HP:0040283	ORPHA:563612
4524	MTHFR	HP:0002156	Homocystinuria	-	OMIM:236250
4524	MTHFR	HP:0002156	Homocystinuria	HP:0040281	ORPHA:395
4524	MTHFR	HP:0002123	Generalized myoclonic seizure	HP:0040284	ORPHA:395
4524	MTHFR	HP:0002121	Generalized non-motor (absence) seizure	HP:0040284	ORPHA:395
4524	MTHFR	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:395
4524	MTHFR	HP:0002104	Apnea	HP:0040283	ORPHA:395
4524	MTHFR	HP:0002160	Hyperhomocystinemia	-	OMIM:236250
4524	MTHFR	HP:0002160	Hyperhomocystinemia	HP:0040281	ORPHA:395
4524	MTHFR	HP:0010516	Thymus hyperplasia	HP:0040283	ORPHA:563609
4524	MTHFR	HP:0011821	Abnormal facial skeleton morphology	HP:0040283	ORPHA:563612
4524	MTHFR	HP:0003401	Paresthesia	-	OMIM:236250
4524	MTHFR	HP:0002204	Pulmonary embolism	-	OMIM:188050
4524	MTHFR	HP:0100753	Schizophrenia	-	OMIM:181500
4524	MTHFR	HP:0010627	Anterior pituitary hypoplasia	HP:0040283	ORPHA:563612
4524	MTHFR	HP:0007086	Social and occupational deterioration	-	OMIM:181500
4524	MTHFR	HP:0002353	EEG abnormality	-	OMIM:181500
4524	MTHFR	HP:0002315	Headache	HP:0040283	ORPHA:395
4524	MTHFR	HP:0002313	Spastic paraparesis	HP:0040282	ORPHA:395
4524	MTHFR	HP:0003658	Hypomethioninemia	HP:0040282	ORPHA:395
4524	MTHFR	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:395
4524	MTHFR	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:563612
4524	MTHFR	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:563609
4524	MTHFR	HP:0002311	Incoordination	-	OMIM:236250
4524	MTHFR	HP:0006827	Atrophy of the spinal cord	HP:0040283	ORPHA:395
4524	MTHFR	HP:0000639	Nystagmus	HP:0040284	ORPHA:395
4524	MTHFR	HP:0001977	Abnormal thrombosis	HP:0040283	ORPHA:395
4524	MTHFR	HP:0000648	Optic atrophy	HP:0040284	ORPHA:395
4524	MTHFR	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:601634
4524	MTHFR	HP:0001907	Thromboembolism	-	OMIM:188050
4524	MTHFR	HP:0000738	Hallucinations	-	OMIM:181500
4524	MTHFR	HP:0000746	Delusion	-	OMIM:181500
4524	MTHFR	HP:0000725	Psychotic episodes	HP:0040282	ORPHA:395
4524	MTHFR	HP:0000709	Psychosis	HP:0040283	ORPHA:395
4524	MTHFR	HP:0000708	Atypical behavior	HP:0040281	ORPHA:395
4524	MTHFR	HP:0000708	Atypical behavior	-	OMIM:236250
4524	MTHFR	HP:0011463	Childhood onset	-	OMIM:188050
4524	MTHFR	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:563609
4524	MTHFR	HP:0004419	Recurrent thrombophlebitis	-	OMIM:188050
4524	MTHFR	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:563612
4524	MTHFR	HP:0000835	Adrenal hypoplasia	HP:0040282	ORPHA:563609
4524	MTHFR	HP:0003286	Cystathioninemia	HP:0040281	ORPHA:395
4524	MTHFR	HP:0010301	Spinal dysraphism	-	OMIM:601634
4524	MTHFR	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:395
4524	MTHFR	HP:0000252	Microcephaly	HP:0040284	ORPHA:395
4524	MTHFR	HP:0000252	Microcephaly	-	OMIM:236250
4524	MTHFR	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:563612
4524	MTHFR	HP:0001539	Omphalocele	HP:0040283	ORPHA:563609
4524	MTHFR	HP:0001508	Failure to thrive	HP:0040283	ORPHA:395
4524	MTHFR	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:563609
4524	MTHFR	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:395
4524	MTHFR	HP:0000369	Low-set ears	HP:0040283	ORPHA:563612
4524	MTHFR	HP:0005305	Cerebral venous thrombosis	-	OMIM:188050
4524	MTHFR	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:395
4524	MTHFR	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:563612
4524	MTHFR	HP:0000478	Abnormality of the eye	HP:0040284	ORPHA:395
4524	MTHFR	HP:0012444	Brain atrophy	HP:0040283	ORPHA:395
4524	MTHFR	HP:0030244	Maternal fever in pregnancy	HP:0040283	ORPHA:563612
4524	MTHFR	HP:0030244	Maternal fever in pregnancy	HP:0040283	ORPHA:563609
4524	MTHFR	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:563612
4524	MTHFR	HP:0005466	Hypoplasia of the frontal bone	HP:0040282	ORPHA:563612
4524	MTHFR	HP:0000520	Proptosis	HP:0040282	ORPHA:563612
4534	MTM1	HP:0001166	Arachnodactyly	9/21	OMIM:310400
4534	MTM1	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	HP:0040281	ORPHA:596
4534	MTM1	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:456328
4534	MTM1	HP:0001270	Motor delay	-	OMIM:310400
4534	MTM1	HP:0001284	Areflexia	18/29	OMIM:310400
4534	MTM1	HP:0002540	Inability to walk	HP:0040283	ORPHA:596
4534	MTM1	HP:0001371	Flexion contracture	-	OMIM:310400
4534	MTM1	HP:0000054	Micropenis	HP:0040282	ORPHA:456328
4534	MTM1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:456328
4534	MTM1	HP:0000048	Bifid scrotum	HP:0040282	ORPHA:456328
4534	MTM1	HP:0000028	Cryptorchidism	17/30	OMIM:310400
4534	MTM1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:456328
4534	MTM1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:596
4534	MTM1	HP:0001305	Dandy-Walker malformation	1/45	OMIM:310400
4534	MTM1	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:596
4534	MTM1	HP:0001319	Neonatal hypotonia	45/45	OMIM:310400
4534	MTM1	HP:0002643	Neonatal respiratory distress	33/41	OMIM:310400
4534	MTM1	HP:0031238	Necklace skeletal muscle fibers	HP:0040282	ORPHA:596
4534	MTM1	HP:0001419	X-linked recessive inheritance	-	OMIM:310400
4534	MTM1	HP:0002021	Pyloric stenosis	-	OMIM:310400
4534	MTM1	HP:0002033	Poor suck	HP:0040282	ORPHA:596
4534	MTM1	HP:0040314	Blind vagina	HP:0040282	ORPHA:456328
4534	MTM1	HP:0003324	Generalized muscle weakness	-	OMIM:310400
4534	MTM1	HP:0030917	Low APGAR score	HP:0040281	ORPHA:596
4534	MTM1	HP:0030919	Low 5-minute APGAR score	19/39	OMIM:310400
4534	MTM1	HP:0030918	Low 1-minute APGAR score	35/39	OMIM:310400
4534	MTM1	HP:0002098	Respiratory distress	HP:0040282	ORPHA:596
4534	MTM1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:456328
4534	MTM1	HP:0002090	Pneumonia	HP:0040282	ORPHA:596
4534	MTM1	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040282	ORPHA:596
4534	MTM1	HP:0004887	Respiratory failure requiring assisted ventilation	28/35	OMIM:310400
4534	MTM1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:596
4534	MTM1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:456328
4534	MTM1	HP:0010628	Facial palsy	-	OMIM:310400
4534	MTM1	HP:0003517	Birth length greater than 97th percentile	25/36	OMIM:310400
4534	MTM1	HP:0002375	Hypokinesia	-	OMIM:310400
4534	MTM1	HP:0003687	Centrally nucleated skeletal muscle fibers	HP:0040282	ORPHA:596
4534	MTM1	HP:0033454	Tube feeding	-	OMIM:310400
4534	MTM1	HP:0006829	Severe muscular hypotonia	HP:0040282	ORPHA:596
4534	MTM1	HP:0006829	Severe muscular hypotonia	-	OMIM:310400
4534	MTM1	HP:0000689	Dental malocclusion	-	OMIM:310400
4534	MTM1	HP:0011308	Slender toe	-	OMIM:310400
4534	MTM1	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:596
4534	MTM1	HP:0000808	Penoscrotal hypospadias	HP:0040282	ORPHA:456328
4534	MTM1	HP:0000807	Glanular hypospadias	HP:0040282	ORPHA:456328
4534	MTM1	HP:0011410	Caesarean section	19/42	OMIM:310400
4534	MTM1	HP:0009110	Diaphragmatic eventration	-	OMIM:310400
4534	MTM1	HP:0000883	Thin ribs	HP:0040283	ORPHA:456328
4534	MTM1	HP:0003244	Penile hypospadias	HP:0040282	ORPHA:456328
4534	MTM1	HP:0000278	Retrognathia	HP:0040283	ORPHA:456328
4534	MTM1	HP:0000256	Macrocephaly	-	OMIM:310400
4534	MTM1	HP:0000275	Narrow face	-	OMIM:310400
4534	MTM1	HP:0000276	Long face	HP:0040283	ORPHA:596
4534	MTM1	HP:0000276	Long face	-	OMIM:310400
4534	MTM1	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:596
4534	MTM1	HP:0000268	Dolichocephaly	-	OMIM:310400
4534	MTM1	HP:0000238	Hydrocephalus	-	OMIM:310400
4534	MTM1	HP:0000218	High palate	HP:0040283	ORPHA:596
4534	MTM1	HP:0000218	High palate	-	OMIM:310400
4534	MTM1	HP:0000218	High palate	HP:0040283	ORPHA:456328
4534	MTM1	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:456328
4534	MTM1	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:596
4534	MTM1	HP:0001561	Polyhydramnios	14/31	OMIM:310400
4534	MTM1	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:596
4534	MTM1	HP:0001558	Decreased fetal movement	21/36	OMIM:310400
4534	MTM1	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:596
4534	MTM1	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:596
4534	MTM1	HP:0002910	Elevated circulating hepatic transaminase concentration	6/45	OMIM:310400
4534	MTM1	HP:0000348	High forehead	-	OMIM:310400
4534	MTM1	HP:0001622	Premature birth	HP:0040282	ORPHA:596
4534	MTM1	HP:0001622	Premature birth	10/42	OMIM:310400
4534	MTM1	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:596
4534	MTM1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:596
4534	MTM1	HP:0000467	Neck muscle weakness	-	OMIM:310400
4534	MTM1	HP:0000544	External ophthalmoplegia	-	OMIM:310400
4535	MT-ND1	HP:0002483	Bulbar signs	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
4535	MT-ND1	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:255210
4535	MT-ND1	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0001138	Optic neuropathy	HP:0040282	OMIM:535000
4535	MT-ND1	HP:0001112	Leber optic atrophy	-	OMIM:535000
4535	MT-ND1	HP:0007327	Mixed demyelinating and axonal polyneuropathy	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:540000
4535	MT-ND1	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0003737	Mitochondrial myopathy	-	OMIM:540000
4535	MT-ND1	HP:0003737	Mitochondrial myopathy	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0002401	Stroke-like episode	-	OMIM:540000
4535	MT-ND1	HP:0002401	Stroke-like episode	HP:0040281	ORPHA:550
4535	MT-ND1	HP:0001298	Encephalopathy	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0001298	Encephalopathy	-	OMIM:540000
4535	MT-ND1	HP:0025268	Stuttering	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0001276	Hypertonia	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0001271	Polyneuropathy	-	OMIM:535000
4535	MT-ND1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0001270	Motor delay	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0001269	Hemiparesis	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0001269	Hemiparesis	-	OMIM:540000
4535	MT-ND1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0001250	Seizure	HP:0040281	ORPHA:550
4535	MT-ND1	HP:0001250	Seizure	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0001251	Ataxia	HP:0040283	ORPHA:104
4535	MT-ND1	HP:0001251	Ataxia	-	OMIM:535000
4535	MT-ND1	HP:0001251	Ataxia	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0001251	Ataxia	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0001257	Spasticity	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0002572	Episodic vomiting	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0002572	Episodic vomiting	-	OMIM:540000
4535	MT-ND1	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0003828	Variable expressivity	-	OMIM:540000
4535	MT-ND1	HP:0003829	Typified by incomplete penetrance	-	OMIM:535000
4535	MT-ND1	HP:0000097	Focal segmental glomerulosclerosis	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0000091	Abnormal renal tubule morphology	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0000093	Proteinuria	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0001399	Hepatic failure	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:550
4535	MT-ND1	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0001332	Dystonia	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0001332	Dystonia	-	OMIM:535000
4535	MT-ND1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:550
4535	MT-ND1	HP:0001336	Myoclonus	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0008947	Floppy infant	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0000114	Proximal tubulopathy	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0001427	Mitochondrial inheritance	-	OMIM:540000
4535	MT-ND1	HP:0001427	Mitochondrial inheritance	-	OMIM:535000
4535	MT-ND1	HP:0000112	Nephropathy	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0002019	Constipation	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0003348	Hyperalaninemia	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0002014	Diarrhea	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0002015	Dysphagia	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0002013	Vomiting	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0002094	Dyspnea	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:540000
4535	MT-ND1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0002076	Migraine	HP:0040281	ORPHA:550
4535	MT-ND1	HP:0002076	Migraine	-	OMIM:540000
4535	MT-ND1	HP:0002072	Chorea	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0002045	Hypothermia	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:550
4535	MT-ND1	HP:0003481	Segmental peripheral demyelination/remyelination	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0002104	Apnea	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
4535	MT-ND1	HP:0002174	Postural tremor	HP:0040283	ORPHA:104
4535	MT-ND1	HP:0002174	Postural tremor	-	OMIM:535000
4535	MT-ND1	HP:0003572	Low plasma citrulline	HP:0040284	ORPHA:255210
4535	MT-ND1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0100704	Cerebral visual impairment	-	OMIM:540000
4535	MT-ND1	HP:0004885	Episodic respiratory distress	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0200125	Mitochondrial respiratory chain defects	HP:0040281	ORPHA:104
4535	MT-ND1	HP:0032036	Reduced contrast sensitivity	HP:0040283	ORPHA:104
4535	MT-ND1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
4535	MT-ND1	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:550
4535	MT-ND1	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0007067	Distal peripheral sensory neuropathy	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0002381	Aphasia	HP:0040281	ORPHA:550
4535	MT-ND1	HP:0001045	Vitiligo	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0002376	Developmental regression	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:550
4535	MT-ND1	HP:0002354	Memory impairment	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0003648	Lacticaciduria	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0100660	Dyskinesia	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:104
4535	MT-ND1	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0100611	Multiple glomerular cysts	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0020120	Retinal nerve fiber edema	HP:0040283	ORPHA:104
4535	MT-ND1	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0007159	Fluctuations in consciousness	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0010783	Erythema	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0007183	Focal T2 hyperintense basal ganglia lesion	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0000639	Nystagmus	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:104
4535	MT-ND1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:104
4535	MT-ND1	HP:0000648	Optic atrophy	-	OMIM:535000
4535	MT-ND1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0000618	Blindness	HP:0040283	ORPHA:2609
4535	MT-ND1	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0001945	Fever	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0001945	Fever	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0000622	Blurred vision	HP:0040282	ORPHA:104
4535	MT-ND1	HP:0000602	Ophthalmoplegia	-	OMIM:540000
4535	MT-ND1	HP:0000603	Central scotoma	HP:0040282	ORPHA:104
4535	MT-ND1	HP:0001903	Anemia	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0004322	Short stature	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0004309	Ventricular preexcitation	HP:0040283	ORPHA:104
4535	MT-ND1	HP:0004389	Intestinal pseudo-obstruction	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0000751	Personality changes	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0100027	Recurrent pancreatitis	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0000739	Anxiety	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0000736	Short attention span	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0012707	Elevated brain lactate level by MRS	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0000716	Depression	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0000726	Dementia	-	OMIM:540000
4535	MT-ND1	HP:0000726	Dementia	HP:0040281	ORPHA:550
4535	MT-ND1	HP:0000709	Psychosis	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0012766	Widened cerebral subarachnoid space	HP:0040281	ORPHA:550
4535	MT-ND1	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0003198	Myopathy	-	OMIM:540000
4535	MT-ND1	HP:0003198	Myopathy	HP:0040283	ORPHA:104
4535	MT-ND1	HP:0003198	Myopathy	-	OMIM:535000
4535	MT-ND1	HP:0003198	Myopathy	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0003128	Lactic acidosis	-	OMIM:540000
4535	MT-ND1	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:550
4535	MT-ND1	HP:0012841	Retinal vascular tortuosity	HP:0040282	ORPHA:104
4535	MT-ND1	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
4535	MT-ND1	HP:0000819	Diabetes mellitus	-	OMIM:540000
4535	MT-ND1	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0000816	Abnormality of Krebs cycle metabolism	HP:0040281	ORPHA:255210
4535	MT-ND1	HP:0000829	Hypoparathyroidism	HP:0040284	ORPHA:550
4535	MT-ND1	HP:0000822	Hypertension	-	OMIM:540000
4535	MT-ND1	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:550
4535	MT-ND1	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:550
4535	MT-ND1	HP:0003200	Ragged-red muscle fibers	HP:0040284	ORPHA:255210
4535	MT-ND1	HP:0003200	Ragged-red muscle fibers	-	OMIM:540000
4535	MT-ND1	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0011675	Arrhythmia	-	OMIM:540000
4535	MT-ND1	HP:0011675	Arrhythmia	HP:0040283	ORPHA:104
4535	MT-ND1	HP:0011675	Arrhythmia	-	OMIM:535000
4535	MT-ND1	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0007763	Retinal telangiectasia	HP:0040282	ORPHA:104
4535	MT-ND1	HP:0007768	Central retinal vessel vascular tortuosity	-	OMIM:535000
4535	MT-ND1	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
4535	MT-ND1	HP:0002883	Hyperventilation	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0001507	Growth abnormality	-	OMIM:540000
4535	MT-ND1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0012377	Hemianopia	-	OMIM:540000
4535	MT-ND1	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0005157	Concentric hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0005162	Abnormal left ventricular function	-	OMIM:540000
4535	MT-ND1	HP:0031434	Abnormal prosody	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0001635	Congestive heart failure	-	OMIM:540000
4535	MT-ND1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0007924	Slow decrease in visual acuity	HP:0040281	ORPHA:104
4535	MT-ND1	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:540000
4535	MT-ND1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:540000
4535	MT-ND1	HP:0001716	Wolff-Parkinson-White syndrome	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0001712	Left ventricular hypertrophy	-	OMIM:540000
4535	MT-ND1	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0012469	Infantile spasms	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	HP:0040281	ORPHA:550
4535	MT-ND1	HP:0000519	Developmental cataract	-	OMIM:540000
4535	MT-ND1	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:255210
4535	MT-ND1	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:104
4535	MT-ND1	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:104
4535	MT-ND1	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
4535	MT-ND1	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:255210
4535	MT-ND1	HP:0000576	Centrocecal scotoma	-	OMIM:535000
4535	MT-ND1	HP:0000576	Centrocecal scotoma	HP:0040282	ORPHA:104
4535	MT-ND1	HP:0000590	Progressive external ophthalmoplegia	HP:0040283	ORPHA:550
4535	MT-ND1	HP:0000572	Visual loss	HP:0040282	ORPHA:550
4535	MT-ND1	HP:0000572	Visual loss	-	OMIM:535000
4535	MT-ND1	HP:0000551	Color vision defect	HP:0040283	ORPHA:104
4535	MT-ND1	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0002483	Bulbar signs	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
4536	MT-ND2	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:255210
4536	MT-ND2	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0001138	Optic neuropathy	HP:0040282	OMIM:535000
4536	MT-ND2	HP:0001112	Leber optic atrophy	-	OMIM:535000
4536	MT-ND2	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0003737	Mitochondrial myopathy	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0001276	Hypertonia	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0001271	Polyneuropathy	-	OMIM:535000
4536	MT-ND2	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0001250	Seizure	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0001251	Ataxia	HP:0040283	ORPHA:104
4536	MT-ND2	HP:0001251	Ataxia	-	OMIM:535000
4536	MT-ND2	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0001251	Ataxia	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0001257	Spasticity	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0002572	Episodic vomiting	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0003829	Typified by incomplete penetrance	-	OMIM:535000
4536	MT-ND2	HP:0000091	Abnormal renal tubule morphology	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0001399	Hepatic failure	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0001332	Dystonia	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0001332	Dystonia	-	OMIM:535000
4536	MT-ND2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0001324	Muscle weakness	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0008947	Floppy infant	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0001427	Mitochondrial inheritance	-	OMIM:535000
4536	MT-ND2	HP:0003348	Hyperalaninemia	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0002015	Dysphagia	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0002094	Dyspnea	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0002066	Gait ataxia	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0002072	Chorea	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0002045	Hypothermia	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0003481	Segmental peripheral demyelination/remyelination	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0002104	Apnea	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
4536	MT-ND2	HP:0002174	Postural tremor	HP:0040283	ORPHA:104
4536	MT-ND2	HP:0002174	Postural tremor	-	OMIM:535000
4536	MT-ND2	HP:0003572	Low plasma citrulline	HP:0040284	ORPHA:255210
4536	MT-ND2	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0004885	Episodic respiratory distress	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0200125	Mitochondrial respiratory chain defects	HP:0040281	ORPHA:104
4536	MT-ND2	HP:0032036	Reduced contrast sensitivity	HP:0040283	ORPHA:104
4536	MT-ND2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
4536	MT-ND2	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0002376	Developmental regression	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0003648	Lacticaciduria	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0100660	Dyskinesia	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:104
4536	MT-ND2	HP:0100611	Multiple glomerular cysts	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0020120	Retinal nerve fiber edema	HP:0040283	ORPHA:104
4536	MT-ND2	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0007183	Focal T2 hyperintense basal ganglia lesion	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0000639	Nystagmus	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:104
4536	MT-ND2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0000648	Optic atrophy	HP:0040282	ORPHA:104
4536	MT-ND2	HP:0000648	Optic atrophy	-	OMIM:535000
4536	MT-ND2	HP:0000618	Blindness	HP:0040283	ORPHA:2609
4536	MT-ND2	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0001945	Fever	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0000622	Blurred vision	HP:0040282	ORPHA:104
4536	MT-ND2	HP:0000603	Central scotoma	HP:0040282	ORPHA:104
4536	MT-ND2	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0004309	Ventricular preexcitation	HP:0040283	ORPHA:104
4536	MT-ND2	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0003198	Myopathy	HP:0040283	ORPHA:104
4536	MT-ND2	HP:0003198	Myopathy	-	OMIM:535000
4536	MT-ND2	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0012841	Retinal vascular tortuosity	HP:0040282	ORPHA:104
4536	MT-ND2	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
4536	MT-ND2	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0000816	Abnormality of Krebs cycle metabolism	HP:0040281	ORPHA:255210
4536	MT-ND2	HP:0003200	Ragged-red muscle fibers	HP:0040284	ORPHA:255210
4536	MT-ND2	HP:0011675	Arrhythmia	HP:0040283	ORPHA:104
4536	MT-ND2	HP:0011675	Arrhythmia	-	OMIM:535000
4536	MT-ND2	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0007763	Retinal telangiectasia	HP:0040282	ORPHA:104
4536	MT-ND2	HP:0007768	Central retinal vessel vascular tortuosity	-	OMIM:535000
4536	MT-ND2	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
4536	MT-ND2	HP:0002883	Hyperventilation	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0031434	Abnormal prosody	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0007924	Slow decrease in visual acuity	HP:0040281	ORPHA:104
4536	MT-ND2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0012469	Infantile spasms	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:255210
4536	MT-ND2	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:104
4536	MT-ND2	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:104
4536	MT-ND2	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
4536	MT-ND2	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:255210
4536	MT-ND2	HP:0000576	Centrocecal scotoma	-	OMIM:535000
4536	MT-ND2	HP:0000576	Centrocecal scotoma	HP:0040282	ORPHA:104
4536	MT-ND2	HP:0000572	Visual loss	-	OMIM:535000
4536	MT-ND2	HP:0000551	Color vision defect	HP:0040283	ORPHA:104
4536	MT-ND2	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0002483	Bulbar signs	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
4537	MT-ND3	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:255210
4537	MT-ND3	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0003737	Mitochondrial myopathy	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0001276	Hypertonia	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0001250	Seizure	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0001251	Ataxia	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0001257	Spasticity	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0002572	Episodic vomiting	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0000091	Abnormal renal tubule morphology	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0001399	Hepatic failure	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0001332	Dystonia	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0001324	Muscle weakness	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0008947	Floppy infant	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0003348	Hyperalaninemia	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0002015	Dysphagia	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0002094	Dyspnea	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0002066	Gait ataxia	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0002072	Chorea	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0002045	Hypothermia	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0003481	Segmental peripheral demyelination/remyelination	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0002104	Apnea	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
4537	MT-ND3	HP:0003572	Low plasma citrulline	HP:0040284	ORPHA:255210
4537	MT-ND3	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0004885	Episodic respiratory distress	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
4537	MT-ND3	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0002376	Developmental regression	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0003648	Lacticaciduria	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0100660	Dyskinesia	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0100611	Multiple glomerular cysts	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0007183	Focal T2 hyperintense basal ganglia lesion	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0000639	Nystagmus	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0000648	Optic atrophy	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0000618	Blindness	HP:0040283	ORPHA:2609
4537	MT-ND3	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0001945	Fever	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
4537	MT-ND3	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0000816	Abnormality of Krebs cycle metabolism	HP:0040281	ORPHA:255210
4537	MT-ND3	HP:0003200	Ragged-red muscle fibers	HP:0040284	ORPHA:255210
4537	MT-ND3	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
4537	MT-ND3	HP:0002883	Hyperventilation	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0031434	Abnormal prosody	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0012469	Infantile spasms	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:255210
4537	MT-ND3	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
4537	MT-ND3	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:255210
4537	MT-ND3	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
4538	MT-ND4	HP:0002483	Bulbar signs	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:255210
4538	MT-ND4	HP:0001138	Optic neuropathy	HP:0040282	OMIM:535000
4538	MT-ND4	HP:0001112	Leber optic atrophy	-	OMIM:535000
4538	MT-ND4	HP:0007327	Mixed demyelinating and axonal polyneuropathy	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0003737	Mitochondrial myopathy	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0002401	Stroke-like episode	HP:0040281	ORPHA:550
4538	MT-ND4	HP:0001298	Encephalopathy	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0025268	Stuttering	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0001276	Hypertonia	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0001271	Polyneuropathy	-	OMIM:535000
4538	MT-ND4	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0001270	Motor delay	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0001269	Hemiparesis	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0001288	Gait disturbance	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0001250	Seizure	HP:0040281	ORPHA:550
4538	MT-ND4	HP:0001250	Seizure	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0001251	Ataxia	HP:0040283	ORPHA:104
4538	MT-ND4	HP:0001251	Ataxia	-	OMIM:535000
4538	MT-ND4	HP:0001251	Ataxia	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0001251	Ataxia	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0001263	Global developmental delay	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0001257	Spasticity	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0002572	Episodic vomiting	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0003829	Typified by incomplete penetrance	-	OMIM:535000
4538	MT-ND4	HP:0000097	Focal segmental glomerulosclerosis	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0000091	Abnormal renal tubule morphology	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0000093	Proteinuria	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0001399	Hepatic failure	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:550
4538	MT-ND4	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0001332	Dystonia	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0001332	Dystonia	-	OMIM:535000
4538	MT-ND4	HP:0001328	Specific learning disability	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0001324	Muscle weakness	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0001324	Muscle weakness	HP:0040281	ORPHA:550
4538	MT-ND4	HP:0001336	Myoclonus	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0008947	Floppy infant	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0000114	Proximal tubulopathy	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0001427	Mitochondrial inheritance	-	OMIM:535000
4538	MT-ND4	HP:0000112	Nephropathy	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0002019	Constipation	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0003348	Hyperalaninemia	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0002014	Diarrhea	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0002015	Dysphagia	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0002013	Vomiting	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0002094	Dyspnea	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0002066	Gait ataxia	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0002076	Migraine	HP:0040281	ORPHA:550
4538	MT-ND4	HP:0002072	Chorea	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0002045	Hypothermia	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:550
4538	MT-ND4	HP:0003481	Segmental peripheral demyelination/remyelination	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0002104	Apnea	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0002174	Postural tremor	HP:0040283	ORPHA:104
4538	MT-ND4	HP:0002174	Postural tremor	-	OMIM:535000
4538	MT-ND4	HP:0003572	Low plasma citrulline	HP:0040284	ORPHA:255210
4538	MT-ND4	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0004885	Episodic respiratory distress	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0200125	Mitochondrial respiratory chain defects	HP:0040281	ORPHA:104
4538	MT-ND4	HP:0032036	Reduced contrast sensitivity	HP:0040283	ORPHA:104
4538	MT-ND4	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:550
4538	MT-ND4	HP:0007067	Distal peripheral sensory neuropathy	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0002381	Aphasia	HP:0040281	ORPHA:550
4538	MT-ND4	HP:0001045	Vitiligo	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0002376	Developmental regression	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0002353	EEG abnormality	HP:0040281	ORPHA:550
4538	MT-ND4	HP:0002354	Memory impairment	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0003648	Lacticaciduria	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0100660	Dyskinesia	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:104
4538	MT-ND4	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0100611	Multiple glomerular cysts	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0020120	Retinal nerve fiber edema	HP:0040283	ORPHA:104
4538	MT-ND4	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0007159	Fluctuations in consciousness	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0010783	Erythema	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0007183	Focal T2 hyperintense basal ganglia lesion	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0000639	Nystagmus	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:104
4538	MT-ND4	HP:0000648	Optic atrophy	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0000648	Optic atrophy	HP:0040282	ORPHA:104
4538	MT-ND4	HP:0000648	Optic atrophy	-	OMIM:535000
4538	MT-ND4	HP:0000648	Optic atrophy	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0001945	Fever	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0001945	Fever	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0000622	Blurred vision	HP:0040282	ORPHA:104
4538	MT-ND4	HP:0000603	Central scotoma	HP:0040282	ORPHA:104
4538	MT-ND4	HP:0001903	Anemia	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0004322	Short stature	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0004309	Ventricular preexcitation	HP:0040283	ORPHA:104
4538	MT-ND4	HP:0004389	Intestinal pseudo-obstruction	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0000751	Personality changes	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0100027	Recurrent pancreatitis	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0000739	Anxiety	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0000736	Short attention span	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0012707	Elevated brain lactate level by MRS	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0000716	Depression	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0000726	Dementia	HP:0040281	ORPHA:550
4538	MT-ND4	HP:0000709	Psychosis	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0012766	Widened cerebral subarachnoid space	HP:0040281	ORPHA:550
4538	MT-ND4	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0003198	Myopathy	HP:0040283	ORPHA:104
4538	MT-ND4	HP:0003198	Myopathy	-	OMIM:535000
4538	MT-ND4	HP:0003198	Myopathy	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:550
4538	MT-ND4	HP:0012841	Retinal vascular tortuosity	HP:0040282	ORPHA:104
4538	MT-ND4	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0000816	Abnormality of Krebs cycle metabolism	HP:0040281	ORPHA:255210
4538	MT-ND4	HP:0000829	Hypoparathyroidism	HP:0040284	ORPHA:550
4538	MT-ND4	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:550
4538	MT-ND4	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:550
4538	MT-ND4	HP:0003200	Ragged-red muscle fibers	HP:0040284	ORPHA:255210
4538	MT-ND4	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0011675	Arrhythmia	HP:0040283	ORPHA:104
4538	MT-ND4	HP:0011675	Arrhythmia	-	OMIM:535000
4538	MT-ND4	HP:0007763	Retinal telangiectasia	HP:0040282	ORPHA:104
4538	MT-ND4	HP:0007768	Central retinal vessel vascular tortuosity	-	OMIM:535000
4538	MT-ND4	HP:0002883	Hyperventilation	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0001508	Failure to thrive	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0001508	Failure to thrive	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0005157	Concentric hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0031434	Abnormal prosody	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0007924	Slow decrease in visual acuity	HP:0040281	ORPHA:104
4538	MT-ND4	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0001716	Wolff-Parkinson-White syndrome	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0012469	Infantile spasms	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0012444	Brain atrophy	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	HP:0040281	ORPHA:550
4538	MT-ND4	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:255210
4538	MT-ND4	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:104
4538	MT-ND4	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:104
4538	MT-ND4	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:255210
4538	MT-ND4	HP:0000576	Centrocecal scotoma	-	OMIM:535000
4538	MT-ND4	HP:0000576	Centrocecal scotoma	HP:0040282	ORPHA:104
4538	MT-ND4	HP:0000590	Progressive external ophthalmoplegia	HP:0040283	ORPHA:550
4538	MT-ND4	HP:0000572	Visual loss	HP:0040282	ORPHA:550
4538	MT-ND4	HP:0000572	Visual loss	-	OMIM:535000
4538	MT-ND4	HP:0000551	Color vision defect	HP:0040283	ORPHA:104
4539	MT-ND4L	HP:0001138	Optic neuropathy	HP:0040282	OMIM:535000
4539	MT-ND4L	HP:0001112	Leber optic atrophy	-	OMIM:535000
4539	MT-ND4L	HP:0001271	Polyneuropathy	-	OMIM:535000
4539	MT-ND4L	HP:0001251	Ataxia	HP:0040283	ORPHA:104
4539	MT-ND4L	HP:0001251	Ataxia	-	OMIM:535000
4539	MT-ND4L	HP:0003829	Typified by incomplete penetrance	-	OMIM:535000
4539	MT-ND4L	HP:0001332	Dystonia	-	OMIM:535000
4539	MT-ND4L	HP:0001427	Mitochondrial inheritance	-	OMIM:535000
4539	MT-ND4L	HP:0002174	Postural tremor	HP:0040283	ORPHA:104
4539	MT-ND4L	HP:0002174	Postural tremor	-	OMIM:535000
4539	MT-ND4L	HP:0200125	Mitochondrial respiratory chain defects	HP:0040281	ORPHA:104
4539	MT-ND4L	HP:0032036	Reduced contrast sensitivity	HP:0040283	ORPHA:104
4539	MT-ND4L	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:104
4539	MT-ND4L	HP:0020120	Retinal nerve fiber edema	HP:0040283	ORPHA:104
4539	MT-ND4L	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:104
4539	MT-ND4L	HP:0000648	Optic atrophy	HP:0040282	ORPHA:104
4539	MT-ND4L	HP:0000648	Optic atrophy	-	OMIM:535000
4539	MT-ND4L	HP:0000622	Blurred vision	HP:0040282	ORPHA:104
4539	MT-ND4L	HP:0000603	Central scotoma	HP:0040282	ORPHA:104
4539	MT-ND4L	HP:0004309	Ventricular preexcitation	HP:0040283	ORPHA:104
4539	MT-ND4L	HP:0003198	Myopathy	HP:0040283	ORPHA:104
4539	MT-ND4L	HP:0003198	Myopathy	-	OMIM:535000
4539	MT-ND4L	HP:0012841	Retinal vascular tortuosity	HP:0040282	ORPHA:104
4539	MT-ND4L	HP:0011675	Arrhythmia	HP:0040283	ORPHA:104
4539	MT-ND4L	HP:0011675	Arrhythmia	-	OMIM:535000
4539	MT-ND4L	HP:0007763	Retinal telangiectasia	HP:0040282	ORPHA:104
4539	MT-ND4L	HP:0007768	Central retinal vessel vascular tortuosity	-	OMIM:535000
4539	MT-ND4L	HP:0007924	Slow decrease in visual acuity	HP:0040281	ORPHA:104
4539	MT-ND4L	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:104
4539	MT-ND4L	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:104
4539	MT-ND4L	HP:0000576	Centrocecal scotoma	-	OMIM:535000
4539	MT-ND4L	HP:0000576	Centrocecal scotoma	HP:0040282	ORPHA:104
4539	MT-ND4L	HP:0000572	Visual loss	-	OMIM:535000
4539	MT-ND4L	HP:0000551	Color vision defect	HP:0040283	ORPHA:104
4540	MT-ND5	HP:0002483	Bulbar signs	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:255210
4540	MT-ND5	HP:0001138	Optic neuropathy	HP:0040282	OMIM:535000
4540	MT-ND5	HP:0001112	Leber optic atrophy	-	OMIM:535000
4540	MT-ND5	HP:0007327	Mixed demyelinating and axonal polyneuropathy	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:540000
4540	MT-ND5	HP:0003737	Mitochondrial myopathy	-	OMIM:540000
4540	MT-ND5	HP:0003737	Mitochondrial myopathy	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0002401	Stroke-like episode	-	OMIM:540000
4540	MT-ND5	HP:0002401	Stroke-like episode	HP:0040281	ORPHA:550
4540	MT-ND5	HP:0001298	Encephalopathy	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0001298	Encephalopathy	-	OMIM:540000
4540	MT-ND5	HP:0025268	Stuttering	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0001276	Hypertonia	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0001271	Polyneuropathy	-	OMIM:535000
4540	MT-ND5	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0001270	Motor delay	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0001269	Hemiparesis	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0001269	Hemiparesis	-	OMIM:540000
4540	MT-ND5	HP:0001288	Gait disturbance	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0001250	Seizure	HP:0040281	ORPHA:550
4540	MT-ND5	HP:0001250	Seizure	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0001251	Ataxia	HP:0040283	ORPHA:104
4540	MT-ND5	HP:0001251	Ataxia	-	OMIM:535000
4540	MT-ND5	HP:0001251	Ataxia	HP:0040281	ORPHA:551
4540	MT-ND5	HP:0001251	Ataxia	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0001251	Ataxia	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0001263	Global developmental delay	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0001257	Spasticity	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0002572	Episodic vomiting	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0002572	Episodic vomiting	-	OMIM:540000
4540	MT-ND5	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0003828	Variable expressivity	-	OMIM:540000
4540	MT-ND5	HP:0003829	Typified by incomplete penetrance	-	OMIM:535000
4540	MT-ND5	HP:0000097	Focal segmental glomerulosclerosis	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0000091	Abnormal renal tubule morphology	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0000093	Proteinuria	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0001399	Hepatic failure	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:550
4540	MT-ND5	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0001332	Dystonia	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0001332	Dystonia	-	OMIM:535000
4540	MT-ND5	HP:0001328	Specific learning disability	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0001324	Muscle weakness	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0001324	Muscle weakness	HP:0040281	ORPHA:550
4540	MT-ND5	HP:0001336	Myoclonus	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0008947	Floppy infant	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0000114	Proximal tubulopathy	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0001427	Mitochondrial inheritance	-	OMIM:540000
4540	MT-ND5	HP:0001427	Mitochondrial inheritance	-	OMIM:535000
4540	MT-ND5	HP:0000112	Nephropathy	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0002019	Constipation	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0003348	Hyperalaninemia	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0002014	Diarrhea	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0002015	Dysphagia	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0002013	Vomiting	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:551
4540	MT-ND5	HP:0002094	Dyspnea	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:540000
4540	MT-ND5	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0002066	Gait ataxia	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0002076	Migraine	HP:0040281	ORPHA:550
4540	MT-ND5	HP:0002076	Migraine	-	OMIM:540000
4540	MT-ND5	HP:0002072	Chorea	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0002045	Hypothermia	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:550
4540	MT-ND5	HP:0003481	Segmental peripheral demyelination/remyelination	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:551
4540	MT-ND5	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0003457	EMG abnormality	HP:0040281	ORPHA:551
4540	MT-ND5	HP:0002104	Apnea	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0002174	Postural tremor	HP:0040283	ORPHA:104
4540	MT-ND5	HP:0002174	Postural tremor	-	OMIM:535000
4540	MT-ND5	HP:0003572	Low plasma citrulline	HP:0040284	ORPHA:255210
4540	MT-ND5	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0100704	Cerebral visual impairment	-	OMIM:540000
4540	MT-ND5	HP:0004885	Episodic respiratory distress	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0200125	Mitochondrial respiratory chain defects	HP:0040281	ORPHA:104
4540	MT-ND5	HP:0032036	Reduced contrast sensitivity	HP:0040283	ORPHA:104
4540	MT-ND5	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:550
4540	MT-ND5	HP:0007067	Distal peripheral sensory neuropathy	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0002381	Aphasia	HP:0040281	ORPHA:550
4540	MT-ND5	HP:0001045	Vitiligo	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0002376	Developmental regression	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0001012	Multiple lipomas	HP:0040282	ORPHA:551
4540	MT-ND5	HP:0002353	EEG abnormality	HP:0040281	ORPHA:550
4540	MT-ND5	HP:0002354	Memory impairment	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0003648	Lacticaciduria	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0100660	Dyskinesia	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:104
4540	MT-ND5	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0100611	Multiple glomerular cysts	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0020120	Retinal nerve fiber edema	HP:0040283	ORPHA:104
4540	MT-ND5	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0007159	Fluctuations in consciousness	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0010783	Erythema	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0007183	Focal T2 hyperintense basal ganglia lesion	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0000639	Nystagmus	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:104
4540	MT-ND5	HP:0000648	Optic atrophy	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0000648	Optic atrophy	HP:0040282	ORPHA:104
4540	MT-ND5	HP:0000648	Optic atrophy	-	OMIM:535000
4540	MT-ND5	HP:0000648	Optic atrophy	HP:0040282	ORPHA:551
4540	MT-ND5	HP:0000648	Optic atrophy	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0001945	Fever	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0001945	Fever	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0000622	Blurred vision	HP:0040282	ORPHA:104
4540	MT-ND5	HP:0000602	Ophthalmoplegia	-	OMIM:540000
4540	MT-ND5	HP:0000603	Central scotoma	HP:0040282	ORPHA:104
4540	MT-ND5	HP:0001903	Anemia	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0004322	Short stature	HP:0040282	ORPHA:551
4540	MT-ND5	HP:0004322	Short stature	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0004309	Ventricular preexcitation	HP:0040283	ORPHA:104
4540	MT-ND5	HP:0004389	Intestinal pseudo-obstruction	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0000751	Personality changes	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:551
4540	MT-ND5	HP:0100027	Recurrent pancreatitis	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0000739	Anxiety	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0000736	Short attention span	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0012707	Elevated brain lactate level by MRS	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0000716	Depression	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0000726	Dementia	-	OMIM:540000
4540	MT-ND5	HP:0000726	Dementia	HP:0040281	ORPHA:550
4540	MT-ND5	HP:0000709	Psychosis	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0012766	Widened cerebral subarachnoid space	HP:0040281	ORPHA:550
4540	MT-ND5	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0003198	Myopathy	-	OMIM:540000
4540	MT-ND5	HP:0003198	Myopathy	HP:0040283	ORPHA:104
4540	MT-ND5	HP:0003198	Myopathy	-	OMIM:535000
4540	MT-ND5	HP:0003198	Myopathy	HP:0040281	ORPHA:551
4540	MT-ND5	HP:0003198	Myopathy	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0003128	Lactic acidosis	-	OMIM:540000
4540	MT-ND5	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:550
4540	MT-ND5	HP:0012841	Retinal vascular tortuosity	HP:0040282	ORPHA:104
4540	MT-ND5	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0000819	Diabetes mellitus	-	OMIM:540000
4540	MT-ND5	HP:0000816	Abnormality of Krebs cycle metabolism	HP:0040281	ORPHA:255210
4540	MT-ND5	HP:0000829	Hypoparathyroidism	HP:0040284	ORPHA:550
4540	MT-ND5	HP:0000822	Hypertension	-	OMIM:540000
4540	MT-ND5	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:550
4540	MT-ND5	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:551
4540	MT-ND5	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:550
4540	MT-ND5	HP:0003200	Ragged-red muscle fibers	HP:0040284	ORPHA:255210
4540	MT-ND5	HP:0003200	Ragged-red muscle fibers	-	OMIM:540000
4540	MT-ND5	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0011675	Arrhythmia	-	OMIM:540000
4540	MT-ND5	HP:0011675	Arrhythmia	HP:0040283	ORPHA:104
4540	MT-ND5	HP:0011675	Arrhythmia	-	OMIM:535000
4540	MT-ND5	HP:0007763	Retinal telangiectasia	HP:0040282	ORPHA:104
4540	MT-ND5	HP:0007768	Central retinal vessel vascular tortuosity	-	OMIM:535000
4540	MT-ND5	HP:0002883	Hyperventilation	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0001508	Failure to thrive	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0001508	Failure to thrive	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0001507	Growth abnormality	-	OMIM:540000
4540	MT-ND5	HP:0012377	Hemianopia	-	OMIM:540000
4540	MT-ND5	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0005157	Concentric hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0005162	Abnormal left ventricular function	-	OMIM:540000
4540	MT-ND5	HP:0031434	Abnormal prosody	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0001635	Congestive heart failure	-	OMIM:540000
4540	MT-ND5	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0007924	Slow decrease in visual acuity	HP:0040281	ORPHA:104
4540	MT-ND5	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:540000
4540	MT-ND5	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:551
4540	MT-ND5	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:540000
4540	MT-ND5	HP:0001716	Wolff-Parkinson-White syndrome	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0001712	Left ventricular hypertrophy	-	OMIM:540000
4540	MT-ND5	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0012469	Infantile spasms	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0012444	Brain atrophy	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	HP:0040281	ORPHA:550
4540	MT-ND5	HP:0000519	Developmental cataract	-	OMIM:540000
4540	MT-ND5	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:255210
4540	MT-ND5	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:104
4540	MT-ND5	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:104
4540	MT-ND5	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:255210
4540	MT-ND5	HP:0000576	Centrocecal scotoma	-	OMIM:535000
4540	MT-ND5	HP:0000576	Centrocecal scotoma	HP:0040282	ORPHA:104
4540	MT-ND5	HP:0000590	Progressive external ophthalmoplegia	HP:0040283	ORPHA:550
4540	MT-ND5	HP:0000572	Visual loss	HP:0040282	ORPHA:550
4540	MT-ND5	HP:0000572	Visual loss	-	OMIM:535000
4540	MT-ND5	HP:0000551	Color vision defect	HP:0040283	ORPHA:104
4541	MT-ND6	HP:0002483	Bulbar signs	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:255210
4541	MT-ND6	HP:0001138	Optic neuropathy	HP:0040282	OMIM:535000
4541	MT-ND6	HP:0001112	Leber optic atrophy	-	OMIM:535000
4541	MT-ND6	HP:0007327	Mixed demyelinating and axonal polyneuropathy	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:540000
4541	MT-ND6	HP:0003737	Mitochondrial myopathy	-	OMIM:540000
4541	MT-ND6	HP:0003737	Mitochondrial myopathy	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0002401	Stroke-like episode	-	OMIM:540000
4541	MT-ND6	HP:0002401	Stroke-like episode	HP:0040281	ORPHA:550
4541	MT-ND6	HP:0001298	Encephalopathy	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0001298	Encephalopathy	-	OMIM:540000
4541	MT-ND6	HP:0025268	Stuttering	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0001276	Hypertonia	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0001271	Polyneuropathy	-	OMIM:535000
4541	MT-ND6	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0001270	Motor delay	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0001269	Hemiparesis	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0001269	Hemiparesis	-	OMIM:540000
4541	MT-ND6	HP:0001288	Gait disturbance	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0001250	Seizure	HP:0040281	ORPHA:550
4541	MT-ND6	HP:0001250	Seizure	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0001251	Ataxia	HP:0040283	ORPHA:104
4541	MT-ND6	HP:0001251	Ataxia	-	OMIM:535000
4541	MT-ND6	HP:0001251	Ataxia	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0001251	Ataxia	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0001263	Global developmental delay	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0001257	Spasticity	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0002572	Episodic vomiting	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0002572	Episodic vomiting	-	OMIM:540000
4541	MT-ND6	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0003828	Variable expressivity	-	OMIM:540000
4541	MT-ND6	HP:0003829	Typified by incomplete penetrance	-	OMIM:535000
4541	MT-ND6	HP:0000097	Focal segmental glomerulosclerosis	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0000091	Abnormal renal tubule morphology	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0000093	Proteinuria	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0001399	Hepatic failure	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:550
4541	MT-ND6	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0001332	Dystonia	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0001332	Dystonia	-	OMIM:535000
4541	MT-ND6	HP:0001328	Specific learning disability	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0001324	Muscle weakness	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0001324	Muscle weakness	HP:0040281	ORPHA:550
4541	MT-ND6	HP:0001336	Myoclonus	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0008947	Floppy infant	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0000114	Proximal tubulopathy	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0001427	Mitochondrial inheritance	-	OMIM:540000
4541	MT-ND6	HP:0001427	Mitochondrial inheritance	-	OMIM:535000
4541	MT-ND6	HP:0000112	Nephropathy	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0002019	Constipation	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0003348	Hyperalaninemia	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0002014	Diarrhea	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0002015	Dysphagia	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0002013	Vomiting	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0002094	Dyspnea	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:540000
4541	MT-ND6	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0002066	Gait ataxia	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0002076	Migraine	HP:0040281	ORPHA:550
4541	MT-ND6	HP:0002076	Migraine	-	OMIM:540000
4541	MT-ND6	HP:0002072	Chorea	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0002045	Hypothermia	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:550
4541	MT-ND6	HP:0003481	Segmental peripheral demyelination/remyelination	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0002104	Apnea	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0002174	Postural tremor	HP:0040283	ORPHA:104
4541	MT-ND6	HP:0002174	Postural tremor	-	OMIM:535000
4541	MT-ND6	HP:0003572	Low plasma citrulline	HP:0040284	ORPHA:255210
4541	MT-ND6	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0100704	Cerebral visual impairment	-	OMIM:540000
4541	MT-ND6	HP:0004885	Episodic respiratory distress	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0200125	Mitochondrial respiratory chain defects	HP:0040281	ORPHA:104
4541	MT-ND6	HP:0032036	Reduced contrast sensitivity	HP:0040283	ORPHA:104
4541	MT-ND6	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:550
4541	MT-ND6	HP:0007067	Distal peripheral sensory neuropathy	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0002381	Aphasia	HP:0040281	ORPHA:550
4541	MT-ND6	HP:0001045	Vitiligo	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0002376	Developmental regression	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0002353	EEG abnormality	HP:0040281	ORPHA:550
4541	MT-ND6	HP:0002354	Memory impairment	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0003648	Lacticaciduria	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0100660	Dyskinesia	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:104
4541	MT-ND6	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0100611	Multiple glomerular cysts	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0020120	Retinal nerve fiber edema	HP:0040283	ORPHA:104
4541	MT-ND6	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0007159	Fluctuations in consciousness	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0010783	Erythema	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0007183	Focal T2 hyperintense basal ganglia lesion	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0000639	Nystagmus	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:104
4541	MT-ND6	HP:0000648	Optic atrophy	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0000648	Optic atrophy	HP:0040282	ORPHA:104
4541	MT-ND6	HP:0000648	Optic atrophy	-	OMIM:535000
4541	MT-ND6	HP:0000648	Optic atrophy	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0001945	Fever	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0001945	Fever	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0000622	Blurred vision	HP:0040282	ORPHA:104
4541	MT-ND6	HP:0000602	Ophthalmoplegia	-	OMIM:540000
4541	MT-ND6	HP:0000603	Central scotoma	HP:0040282	ORPHA:104
4541	MT-ND6	HP:0001903	Anemia	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0004322	Short stature	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0004309	Ventricular preexcitation	HP:0040283	ORPHA:104
4541	MT-ND6	HP:0004389	Intestinal pseudo-obstruction	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0000751	Personality changes	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0100027	Recurrent pancreatitis	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0000739	Anxiety	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0000736	Short attention span	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0012707	Elevated brain lactate level by MRS	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0000716	Depression	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0000726	Dementia	-	OMIM:540000
4541	MT-ND6	HP:0000726	Dementia	HP:0040281	ORPHA:550
4541	MT-ND6	HP:0000709	Psychosis	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0012766	Widened cerebral subarachnoid space	HP:0040281	ORPHA:550
4541	MT-ND6	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0003198	Myopathy	-	OMIM:540000
4541	MT-ND6	HP:0003198	Myopathy	HP:0040283	ORPHA:104
4541	MT-ND6	HP:0003198	Myopathy	-	OMIM:535000
4541	MT-ND6	HP:0003198	Myopathy	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0003128	Lactic acidosis	-	OMIM:540000
4541	MT-ND6	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:550
4541	MT-ND6	HP:0012841	Retinal vascular tortuosity	HP:0040282	ORPHA:104
4541	MT-ND6	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0000819	Diabetes mellitus	-	OMIM:540000
4541	MT-ND6	HP:0000816	Abnormality of Krebs cycle metabolism	HP:0040281	ORPHA:255210
4541	MT-ND6	HP:0000829	Hypoparathyroidism	HP:0040284	ORPHA:550
4541	MT-ND6	HP:0000822	Hypertension	-	OMIM:540000
4541	MT-ND6	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:550
4541	MT-ND6	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:550
4541	MT-ND6	HP:0003200	Ragged-red muscle fibers	HP:0040284	ORPHA:255210
4541	MT-ND6	HP:0003200	Ragged-red muscle fibers	-	OMIM:540000
4541	MT-ND6	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0011675	Arrhythmia	-	OMIM:540000
4541	MT-ND6	HP:0011675	Arrhythmia	HP:0040283	ORPHA:104
4541	MT-ND6	HP:0011675	Arrhythmia	-	OMIM:535000
4541	MT-ND6	HP:0007763	Retinal telangiectasia	HP:0040282	ORPHA:104
4541	MT-ND6	HP:0007768	Central retinal vessel vascular tortuosity	-	OMIM:535000
4541	MT-ND6	HP:0002883	Hyperventilation	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0001508	Failure to thrive	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0001508	Failure to thrive	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0001507	Growth abnormality	-	OMIM:540000
4541	MT-ND6	HP:0012377	Hemianopia	-	OMIM:540000
4541	MT-ND6	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0005157	Concentric hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0005162	Abnormal left ventricular function	-	OMIM:540000
4541	MT-ND6	HP:0031434	Abnormal prosody	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0001635	Congestive heart failure	-	OMIM:540000
4541	MT-ND6	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0007924	Slow decrease in visual acuity	HP:0040281	ORPHA:104
4541	MT-ND6	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:540000
4541	MT-ND6	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:540000
4541	MT-ND6	HP:0001716	Wolff-Parkinson-White syndrome	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0001712	Left ventricular hypertrophy	-	OMIM:540000
4541	MT-ND6	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0012469	Infantile spasms	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0012444	Brain atrophy	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	HP:0040281	ORPHA:550
4541	MT-ND6	HP:0000519	Developmental cataract	-	OMIM:540000
4541	MT-ND6	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:255210
4541	MT-ND6	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:104
4541	MT-ND6	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:104
4541	MT-ND6	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:255210
4541	MT-ND6	HP:0000576	Centrocecal scotoma	-	OMIM:535000
4541	MT-ND6	HP:0000576	Centrocecal scotoma	HP:0040282	ORPHA:104
4541	MT-ND6	HP:0000590	Progressive external ophthalmoplegia	HP:0040283	ORPHA:550
4541	MT-ND6	HP:0000572	Visual loss	HP:0040282	ORPHA:550
4541	MT-ND6	HP:0000572	Visual loss	-	OMIM:535000
4541	MT-ND6	HP:0000551	Color vision defect	HP:0040283	ORPHA:104
4544	MTNR1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
4544	MTNR1B	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
4544	MTNR1B	HP:0003584	Late onset	-	OMIM:125853
4544	MTNR1B	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
4544	MTNR1B	HP:0000855	Insulin resistance	-	OMIM:125853
4547	MTTP	HP:0002495	Impaired vibratory sensation	HP:0040283	ORPHA:14
4547	MTTP	HP:0002493	Upper motor neuron dysfunction	HP:0040283	ORPHA:14
4547	MTTP	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
4547	MTTP	HP:0007305	CNS demyelination	-	OMIM:200100
4547	MTTP	HP:0002403	Positive Romberg sign	HP:0040283	ORPHA:14
4547	MTTP	HP:0001284	Areflexia	HP:0040282	ORPHA:14
4547	MTTP	HP:0001251	Ataxia	HP:0040283	ORPHA:14
4547	MTTP	HP:0001251	Ataxia	-	OMIM:200100
4547	MTTP	HP:0001260	Dysarthria	HP:0040283	ORPHA:14
4547	MTTP	HP:0025201	Abnormal circulating apolipoprotein concentration	HP:0040281	ORPHA:14
4547	MTTP	HP:0002570	Steatorrhea	HP:0040281	ORPHA:14
4547	MTTP	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:14
4547	MTTP	HP:0001395	Hepatic fibrosis	HP:0040284	ORPHA:14
4547	MTTP	HP:0001394	Cirrhosis	HP:0040284	ORPHA:14
4547	MTTP	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
4547	MTTP	HP:0000007	Autosomal recessive inheritance	-	OMIM:200100
4547	MTTP	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
4547	MTTP	HP:0001310	Dysmetria	HP:0040283	ORPHA:14
4547	MTTP	HP:0002630	Fat malabsorption	HP:0040281	ORPHA:14
4547	MTTP	HP:0002630	Fat malabsorption	-	OMIM:200100
4547	MTTP	HP:0012153	Hypotriglyceridemia	HP:0040282	ORPHA:14
4547	MTTP	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
4547	MTTP	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
4547	MTTP	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:14
4547	MTTP	HP:0002028	Chronic diarrhea	HP:0040282	ORPHA:14
4547	MTTP	HP:0003326	Myalgia	HP:0040282	ORPHA:14
4547	MTTP	HP:0002013	Vomiting	HP:0040283	ORPHA:14
4547	MTTP	HP:0002066	Gait ataxia	HP:0040283	ORPHA:14
4547	MTTP	HP:0003376	Steppage gait	HP:0040283	ORPHA:14
4547	MTTP	HP:0100512	Decreased circulating vitamin D concentration	HP:0040282	ORPHA:14
4547	MTTP	HP:0100513	Decreased circulating vitamin E concentration	HP:0040281	ORPHA:14
4547	MTTP	HP:0008181	Abetalipoproteinemia	-	OMIM:200100
4547	MTTP	HP:0008151	Prolonged prothrombin time	HP:0040283	ORPHA:14
4547	MTTP	HP:0003487	Babinski sign	HP:0040283	ORPHA:14
4547	MTTP	HP:0002136	Broad-based gait	HP:0040283	ORPHA:14
4547	MTTP	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:14
4547	MTTP	HP:0003563	Decreased LDL cholesterol concentration	HP:0040282	ORPHA:14
4547	MTTP	HP:0025022	Decreased erythrocyte sedimentation rate	HP:0040283	ORPHA:14
4547	MTTP	HP:0010831	Impaired proprioception	HP:0040283	ORPHA:14
4547	MTTP	HP:0001097	Keratoconjunctivitis sicca	HP:0040284	ORPHA:14
4547	MTTP	HP:0003621	Juvenile onset	8/19	OMIM:180100
4547	MTTP	HP:0004905	Reduced circulating vitamin A concentration	HP:0040282	ORPHA:14
4547	MTTP	HP:0006858	Impaired distal proprioception	HP:0040283	ORPHA:14
4547	MTTP	HP:0000618	Blindness	HP:0040284	ORPHA:14
4547	MTTP	HP:0001927	Acanthocytosis	HP:0040281	ORPHA:14
4547	MTTP	HP:0001927	Acanthocytosis	-	OMIM:200100
4547	MTTP	HP:0001923	Reticulocytosis	HP:0040282	ORPHA:14
4547	MTTP	HP:0000602	Ophthalmoplegia	HP:0040284	ORPHA:14
4547	MTTP	HP:0001903	Anemia	HP:0040282	ORPHA:14
4547	MTTP	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:14
4547	MTTP	HP:0000662	Nyctalopia	HP:0040282	ORPHA:14
4547	MTTP	HP:0000662	Nyctalopia	26/28	OMIM:180100
4547	MTTP	HP:0003073	Hypoalbuminemia	HP:0040282	ORPHA:14
4547	MTTP	HP:0000707	Abnormality of the nervous system	HP:0040281	ORPHA:14
4547	MTTP	HP:0011463	Childhood onset	3/19	OMIM:180100
4547	MTTP	HP:0011462	Young adult onset	8/19	OMIM:180100
4547	MTTP	HP:0003198	Myopathy	HP:0040283	ORPHA:14
4547	MTTP	HP:0003146	Hypocholesterolemia	HP:0040282	ORPHA:14
4547	MTTP	HP:0012804	Corneal ulceration	HP:0040284	ORPHA:14
4547	MTTP	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:14
4547	MTTP	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:14
4547	MTTP	HP:0000938	Osteopenia	HP:0040283	ORPHA:14
4547	MTTP	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:14
4547	MTTP	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
4547	MTTP	HP:0002878	Respiratory failure	HP:0040284	ORPHA:14
4547	MTTP	HP:0001508	Failure to thrive	HP:0040282	ORPHA:14
4547	MTTP	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
4547	MTTP	HP:0011096	Peripheral demyelination	-	OMIM:200100
4547	MTTP	HP:0007894	Hypopigmentation of the fundus	HP:0040283	ORPHA:14
4547	MTTP	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:14
4547	MTTP	HP:0002904	Hyperbilirubinemia	HP:0040282	ORPHA:14
4547	MTTP	HP:0001640	Cardiomegaly	HP:0040284	ORPHA:14
4547	MTTP	HP:0001635	Congestive heart failure	HP:0040284	ORPHA:14
4547	MTTP	HP:0000488	Retinopathy	-	OMIM:200100
4547	MTTP	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:14
4547	MTTP	HP:0001761	Pes cavus	HP:0040283	ORPHA:14
4547	MTTP	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
4547	MTTP	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:14
4547	MTTP	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:14
4547	MTTP	HP:0000508	Ptosis	HP:0040284	ORPHA:14
4547	MTTP	HP:0000575	Scotoma	HP:0040283	ORPHA:14
4547	MTTP	HP:0000575	Scotoma	5/18	OMIM:180100
4547	MTTP	HP:0001892	Abnormal bleeding	HP:0040284	ORPHA:14
4547	MTTP	HP:0000551	Color vision defect	HP:0040282	ORPHA:14
4547	MTTP	HP:0000546	Retinal degeneration	-	OMIM:200100
4547	MTTP	HP:0000543	Optic disc pallor	1/1	OMIM:180100
4547	MTTP	HP:0000545	Myopia	-	OMIM:180100
4548	MTR	HP:0001288	Gait disturbance	-	OMIM:250940
4548	MTR	HP:0001254	Lethargy	1/1	OMIM:250940
4548	MTR	HP:0001250	Seizure	2/4	OMIM:250940
4548	MTR	HP:0001252	Hypotonia	3/4	OMIM:250940
4548	MTR	HP:0001249	Intellectual disability	-	OMIM:250940
4548	MTR	HP:0001263	Global developmental delay	1/1	OMIM:250940
4548	MTR	HP:0001257	Spasticity	1/3	OMIM:250940
4548	MTR	HP:0001238	Slender finger	1/3	OMIM:250940
4548	MTR	HP:0000007	Autosomal recessive inheritance	-	OMIM:250940
4548	MTR	HP:0000007	Autosomal recessive inheritance	-	OMIM:601634
4548	MTR	HP:0012120	Methylmalonic aciduria	0/4	OMIM:250940
4548	MTR	HP:0002014	Diarrhea	1/3	OMIM:250940
4548	MTR	HP:0002013	Vomiting	1/1	OMIM:250940
4548	MTR	HP:0002098	Respiratory distress	1/3	OMIM:250940
4548	MTR	HP:0002059	Cerebral atrophy	-	OMIM:250940
4548	MTR	HP:0002156	Homocystinuria	3/3	OMIM:250940
4548	MTR	HP:0002197	Generalized-onset seizure	1/3	OMIM:250940
4548	MTR	HP:0002160	Hyperhomocystinemia	3/3	OMIM:250940
4548	MTR	HP:0003593	Infantile onset	2/4	OMIM:250940
4548	MTR	HP:0003524	Decreased methionine synthase activity	2/2	OMIM:250940
4548	MTR	HP:0011968	Feeding difficulties	1/3	OMIM:250940
4548	MTR	HP:0002370	Poor coordination	-	OMIM:250940
4548	MTR	HP:0003658	Hypomethioninemia	5/5	OMIM:250940
4548	MTR	HP:0003623	Neonatal onset	3/4	OMIM:250940
4548	MTR	HP:0000639	Nystagmus	5/13	OMIM:250940
4548	MTR	HP:0000618	Blindness	HP:0040283	OMIM:250940
4548	MTR	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:601634
4548	MTR	HP:0011344	Severe global developmental delay	2/3	OMIM:250940
4548	MTR	HP:0004322	Short stature	3/3	OMIM:250940
4548	MTR	HP:0040126	Abnormal circulating vitamin B12 concentration	0/1	OMIM:250940
4548	MTR	HP:0040087	Abnormal blood folate concentration	0/1	OMIM:250940
4548	MTR	HP:0003223	Decreased circulating methylcobalamin concentration	-	OMIM:250940
4548	MTR	HP:0010301	Spinal dysraphism	-	OMIM:601634
4548	MTR	HP:0000952	Jaundice	1/3	OMIM:250940
4548	MTR	HP:0001583	Rotary nystagmus	2/3	OMIM:250940
4548	MTR	HP:0000252	Microcephaly	2/3	OMIM:250940
4548	MTR	HP:0002878	Respiratory failure	1/3	OMIM:250940
4548	MTR	HP:0001508	Failure to thrive	1/3	OMIM:250940
4548	MTR	HP:0001510	Growth delay	1/3	OMIM:250940
4548	MTR	HP:0001763	Pes planus	1/3	OMIM:250940
4548	MTR	HP:0001889	Megaloblastic anemia	4/4	OMIM:250940
4548	MTR	HP:0001875	Decreased total neutrophil count	1/3	OMIM:250940
4549	MT-RNR1	HP:0001251	Ataxia	HP:0040281	ORPHA:551
4549	MT-RNR1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:551
4549	MT-RNR1	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:551
4549	MT-RNR1	HP:0003457	EMG abnormality	HP:0040281	ORPHA:551
4549	MT-RNR1	HP:0001012	Multiple lipomas	HP:0040282	ORPHA:551
4549	MT-RNR1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:551
4549	MT-RNR1	HP:0004322	Short stature	HP:0040282	ORPHA:551
4549	MT-RNR1	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:551
4549	MT-RNR1	HP:0003198	Myopathy	HP:0040281	ORPHA:551
4549	MT-RNR1	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:551
4549	MT-RNR1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:551
4552	MTRR	HP:0002487	Hyperkinetic movements	1/2	OMIM:236270
4552	MTRR	HP:0001159	Syndactyly	HP:0040283	ORPHA:2169
4552	MTRR	HP:0001276	Hypertonia	1/2	OMIM:236270
4552	MTRR	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:2169
4552	MTRR	HP:0001288	Gait disturbance	-	OMIM:236270
4552	MTRR	HP:0001254	Lethargy	-	OMIM:236270
4552	MTRR	HP:0001254	Lethargy	HP:0040283	ORPHA:2169
4552	MTRR	HP:0001250	Seizure	1/2	OMIM:236270
4552	MTRR	HP:0001250	Seizure	HP:0040282	ORPHA:2169
4552	MTRR	HP:0001252	Hypotonia	1/2	OMIM:236270
4552	MTRR	HP:0001252	Hypotonia	HP:0040282	ORPHA:2169
4552	MTRR	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2169
4552	MTRR	HP:0001263	Global developmental delay	2/2	OMIM:236270
4552	MTRR	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2169
4552	MTRR	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:2169
4552	MTRR	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:2169
4552	MTRR	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:2169
4552	MTRR	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:2169
4552	MTRR	HP:0000007	Autosomal recessive inheritance	-	OMIM:236270
4552	MTRR	HP:0000007	Autosomal recessive inheritance	-	OMIM:601634
4552	MTRR	HP:0002650	Scoliosis	HP:0040283	ORPHA:2169
4552	MTRR	HP:0002625	Deep venous thrombosis	HP:0040283	ORPHA:2169
4552	MTRR	HP:0012120	Methylmalonic aciduria	0/2	OMIM:236270
4552	MTRR	HP:0002013	Vomiting	HP:0040282	ORPHA:2169
4552	MTRR	HP:0002059	Cerebral atrophy	-	OMIM:236270
4552	MTRR	HP:0002156	Homocystinuria	-	OMIM:236270
4552	MTRR	HP:0002120	Cerebral cortical atrophy	1/2	OMIM:236270
4552	MTRR	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:2169
4552	MTRR	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:2169
4552	MTRR	HP:0002160	Hyperhomocystinemia	2/2	OMIM:236270
4552	MTRR	HP:0002160	Hyperhomocystinemia	HP:0040281	ORPHA:2169
4552	MTRR	HP:0003593	Infantile onset	-	OMIM:236270
4552	MTRR	HP:0003524	Decreased methionine synthase activity	-	OMIM:236270
4552	MTRR	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2169
4552	MTRR	HP:0002365	Hypoplasia of the brainstem	HP:0040283	ORPHA:2169
4552	MTRR	HP:0002329	Drowsiness	HP:0040282	ORPHA:2169
4552	MTRR	HP:0003658	Hypomethioninemia	1/2	OMIM:236270
4552	MTRR	HP:0003658	Hypomethioninemia	HP:0040282	ORPHA:2169
4552	MTRR	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:2169
4552	MTRR	HP:0003623	Neonatal onset	2/2	OMIM:236270
4552	MTRR	HP:0007185	Loss of consciousness	HP:0040282	ORPHA:2169
4552	MTRR	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:2169
4552	MTRR	HP:0005575	Hemolytic-uremic syndrome	HP:0040283	ORPHA:2169
4552	MTRR	HP:0006895	Lower limb hypertonia	HP:0040283	ORPHA:2169
4552	MTRR	HP:0006887	Intellectual disability, progressive	-	OMIM:236270
4552	MTRR	HP:0000639	Nystagmus	1/2	OMIM:236270
4552	MTRR	HP:0000639	Nystagmus	HP:0040283	ORPHA:2169
4552	MTRR	HP:0001980	Megaloblastic bone marrow	HP:0040281	ORPHA:2169
4552	MTRR	HP:0001972	Macrocytic anemia	HP:0040282	ORPHA:2169
4552	MTRR	HP:0000618	Blindness	HP:0040283	OMIM:236270
4552	MTRR	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:601634
4552	MTRR	HP:0001907	Thromboembolism	HP:0040283	ORPHA:2169
4552	MTRR	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:2169
4552	MTRR	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:2169
4552	MTRR	HP:0012704	Widened subarachnoid space	HP:0040283	ORPHA:2169
4552	MTRR	HP:0000708	Atypical behavior	HP:0040283	ORPHA:2169
4552	MTRR	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:2169
4552	MTRR	HP:0000822	Hypertension	HP:0040283	ORPHA:2169
4552	MTRR	HP:0003223	Decreased circulating methylcobalamin concentration	-	OMIM:236270
4552	MTRR	HP:0010301	Spinal dysraphism	-	OMIM:601634
4552	MTRR	HP:0000939	Osteoporosis	HP:0040283	ORPHA:2169
4552	MTRR	HP:0030084	Clinodactyly	HP:0040283	ORPHA:2169
4552	MTRR	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2169
4552	MTRR	HP:0000252	Microcephaly	HP:0040282	ORPHA:2169
4552	MTRR	HP:0001508	Failure to thrive	2/2	OMIM:236270
4552	MTRR	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2169
4552	MTRR	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2169
4552	MTRR	HP:0002912	Methylmalonic acidemia	0/2	OMIM:236270
4552	MTRR	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2169
4552	MTRR	HP:0001626	Abnormality of the cardiovascular system	HP:0040283	ORPHA:2169
4552	MTRR	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:2169
4552	MTRR	HP:0012448	Delayed myelination	HP:0040283	ORPHA:2169
4552	MTRR	HP:0012444	Brain atrophy	HP:0040282	ORPHA:2169
4552	MTRR	HP:0000505	Visual impairment	HP:0040283	ORPHA:2169
4552	MTRR	HP:0001889	Megaloblastic anemia	2/2	OMIM:236270
4552	MTRR	HP:0001897	Normocytic anemia	2/2	OMIM:236270
4552	MTRR	HP:0001876	Pancytopenia	HP:0040283	ORPHA:2169
4552	MTRR	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:2169
4556	MT-TE	HP:0002495	Impaired vibratory sensation	HP:0040284	ORPHA:2596
4556	MT-TE	HP:0003749	Pelvic girdle muscle weakness	HP:0040283	ORPHA:2596
4556	MT-TE	HP:0003756	Skeletal myopathy	HP:0040281	ORPHA:2596
4556	MT-TE	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:254864
4556	MT-TE	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:254864
4556	MT-TE	HP:0001260	Dysarthria	HP:0040283	ORPHA:2596
4556	MT-TE	HP:0002540	Inability to walk	HP:0040282	ORPHA:2596
4556	MT-TE	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:254864
4556	MT-TE	HP:0012036	Sternocleidomastoid amyotrophy	HP:0040283	ORPHA:2596
4556	MT-TE	HP:0001324	Muscle weakness	HP:0040281	ORPHA:254864
4556	MT-TE	HP:0001319	Neonatal hypotonia	HP:0040284	ORPHA:2596
4556	MT-TE	HP:0000158	Macroglossia	HP:0040283	ORPHA:254864
4556	MT-TE	HP:0008944	Distal lower limb amyotrophy	HP:0040283	ORPHA:2596
4556	MT-TE	HP:0031258	Delirium	HP:0040284	ORPHA:2596
4556	MT-TE	HP:0002033	Poor suck	HP:0040283	ORPHA:254864
4556	MT-TE	HP:0003326	Myalgia	HP:0040283	ORPHA:2596
4556	MT-TE	HP:0005946	Ventilator dependence with inability to wean	HP:0040283	ORPHA:254864
4556	MT-TE	HP:0002098	Respiratory distress	HP:0040283	ORPHA:2596
4556	MT-TE	HP:0002098	Respiratory distress	HP:0040282	ORPHA:254864
4556	MT-TE	HP:0002073	Progressive cerebellar ataxia	HP:0040283	ORPHA:2596
4556	MT-TE	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:254864
4556	MT-TE	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:2596
4556	MT-TE	HP:0003487	Babinski sign	HP:0040282	ORPHA:2596
4556	MT-TE	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040282	ORPHA:254864
4556	MT-TE	HP:0002194	Delayed gross motor development	HP:0040284	ORPHA:254864
4556	MT-TE	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:254864
4556	MT-TE	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:2596
4556	MT-TE	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:2596
4556	MT-TE	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:2596
4556	MT-TE	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040283	ORPHA:254864
4556	MT-TE	HP:0100753	Schizophrenia	HP:0040284	ORPHA:2596
4556	MT-TE	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:2596
4556	MT-TE	HP:0002359	Frequent falls	HP:0040283	ORPHA:2596
4556	MT-TE	HP:0003688	Cytochrome C oxidase-negative muscle fibers	HP:0040281	ORPHA:254864
4556	MT-TE	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:2596
4556	MT-TE	HP:0100651	Type I diabetes mellitus	HP:0040281	ORPHA:2596
4556	MT-TE	HP:0007126	Proximal amyotrophy	HP:0040281	ORPHA:2596
4556	MT-TE	HP:0004900	Severe lactic acidosis	HP:0040282	ORPHA:254864
4556	MT-TE	HP:0009073	Progressive proximal muscle weakness	HP:0040282	ORPHA:2596
4556	MT-TE	HP:0009051	Increased muscle glycogen content	HP:0040281	ORPHA:254864
4556	MT-TE	HP:0009058	Increased muscle lipid content	HP:0040281	ORPHA:254864
4556	MT-TE	HP:0009046	Difficulty running	HP:0040282	ORPHA:2596
4556	MT-TE	HP:0000726	Dementia	HP:0040284	ORPHA:2596
4556	MT-TE	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:254864
4556	MT-TE	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:254864
4556	MT-TE	HP:0003198	Myopathy	HP:0040281	ORPHA:254864
4556	MT-TE	HP:0003234	Decreased circulating carnitine concentration	HP:0040283	ORPHA:254864
4556	MT-TE	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:254864
4556	MT-TE	HP:0000218	High palate	HP:0040283	ORPHA:254864
4556	MT-TE	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:2596
4556	MT-TE	HP:0012391	Hyporeflexia of upper limbs	HP:0040282	ORPHA:2596
4556	MT-TE	HP:0001626	Abnormality of the cardiovascular system	HP:0040283	ORPHA:254864
4556	MT-TE	HP:0030319	Weakness of facial musculature	HP:0040283	ORPHA:2596
4556	MT-TE	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:2596
4556	MT-TE	HP:0001771	Achilles tendon contracture	HP:0040284	ORPHA:2596
4556	MT-TE	HP:0012507	Weakness of orbicularis oculi muscle	HP:0040283	ORPHA:2596
4558	MT-TF	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:550
4558	MT-TF	HP:0007327	Mixed demyelinating and axonal polyneuropathy	HP:0040283	ORPHA:550
4558	MT-TF	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:550
4558	MT-TF	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:540000
4558	MT-TF	HP:0003737	Mitochondrial myopathy	-	OMIM:540000
4558	MT-TF	HP:0002401	Stroke-like episode	-	OMIM:540000
4558	MT-TF	HP:0002401	Stroke-like episode	HP:0040281	ORPHA:550
4558	MT-TF	HP:0001298	Encephalopathy	HP:0040282	ORPHA:550
4558	MT-TF	HP:0001298	Encephalopathy	-	OMIM:540000
4558	MT-TF	HP:0025268	Stuttering	HP:0040283	ORPHA:550
4558	MT-TF	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:550
4558	MT-TF	HP:0001270	Motor delay	HP:0040283	ORPHA:550
4558	MT-TF	HP:0001269	Hemiparesis	HP:0040282	ORPHA:550
4558	MT-TF	HP:0001269	Hemiparesis	-	OMIM:540000
4558	MT-TF	HP:0001288	Gait disturbance	HP:0040282	ORPHA:550
4558	MT-TF	HP:0001250	Seizure	-	OMIM:545000
4558	MT-TF	HP:0001250	Seizure	HP:0040281	ORPHA:550
4558	MT-TF	HP:0001251	Ataxia	-	OMIM:545000
4558	MT-TF	HP:0001251	Ataxia	HP:0040281	ORPHA:551
4558	MT-TF	HP:0001251	Ataxia	HP:0040282	ORPHA:550
4558	MT-TF	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:550
4558	MT-TF	HP:0001263	Global developmental delay	HP:0040283	ORPHA:550
4558	MT-TF	HP:0001257	Spasticity	-	OMIM:545000
4558	MT-TF	HP:0002572	Episodic vomiting	-	OMIM:540000
4558	MT-TF	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:550
4558	MT-TF	HP:0003828	Variable expressivity	-	OMIM:540000
4558	MT-TF	HP:0000097	Focal segmental glomerulosclerosis	HP:0040283	ORPHA:550
4558	MT-TF	HP:0000093	Proteinuria	HP:0040283	ORPHA:550
4558	MT-TF	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:550
4558	MT-TF	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:550
4558	MT-TF	HP:0001328	Specific learning disability	HP:0040282	ORPHA:550
4558	MT-TF	HP:0001324	Muscle weakness	-	OMIM:545000
4558	MT-TF	HP:0001324	Muscle weakness	HP:0040281	ORPHA:550
4558	MT-TF	HP:0001336	Myoclonus	-	OMIM:545000
4558	MT-TF	HP:0001336	Myoclonus	HP:0040282	ORPHA:550
4558	MT-TF	HP:0000114	Proximal tubulopathy	HP:0040283	ORPHA:550
4558	MT-TF	HP:0001427	Mitochondrial inheritance	-	OMIM:540000
4558	MT-TF	HP:0001427	Mitochondrial inheritance	-	OMIM:545000
4558	MT-TF	HP:0000112	Nephropathy	HP:0040283	ORPHA:550
4558	MT-TF	HP:0002019	Constipation	HP:0040283	ORPHA:550
4558	MT-TF	HP:0002014	Diarrhea	HP:0040283	ORPHA:550
4558	MT-TF	HP:0002013	Vomiting	HP:0040282	ORPHA:550
4558	MT-TF	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:550
4558	MT-TF	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:551
4558	MT-TF	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:550
4558	MT-TF	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:540000
4558	MT-TF	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:550
4558	MT-TF	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:550
4558	MT-TF	HP:0002076	Migraine	HP:0040281	ORPHA:550
4558	MT-TF	HP:0002076	Migraine	-	OMIM:540000
4558	MT-TF	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:550
4558	MT-TF	HP:0002151	Increased circulating lactate concentration	-	OMIM:545000
4558	MT-TF	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:550
4558	MT-TF	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:551
4558	MT-TF	HP:0002123	Generalized myoclonic seizure	-	OMIM:545000
4558	MT-TF	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:550
4558	MT-TF	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:550
4558	MT-TF	HP:0003457	EMG abnormality	HP:0040281	ORPHA:551
4558	MT-TF	HP:0100704	Cerebral visual impairment	-	OMIM:540000
4558	MT-TF	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:550
4558	MT-TF	HP:0003542	Increased circulating pyruvate concentration	-	OMIM:545000
4558	MT-TF	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:550
4558	MT-TF	HP:0007067	Distal peripheral sensory neuropathy	HP:0040283	ORPHA:550
4558	MT-TF	HP:0002381	Aphasia	HP:0040281	ORPHA:550
4558	MT-TF	HP:0001045	Vitiligo	HP:0040283	ORPHA:550
4558	MT-TF	HP:0001012	Multiple lipomas	HP:0040282	ORPHA:551
4558	MT-TF	HP:0002353	EEG abnormality	HP:0040281	ORPHA:550
4558	MT-TF	HP:0002354	Memory impairment	HP:0040282	ORPHA:550
4558	MT-TF	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:550
4558	MT-TF	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:550
4558	MT-TF	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:550
4558	MT-TF	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:550
4558	MT-TF	HP:0007159	Fluctuations in consciousness	HP:0040282	ORPHA:550
4558	MT-TF	HP:0010783	Erythema	HP:0040283	ORPHA:550
4558	MT-TF	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:550
4558	MT-TF	HP:0000648	Optic atrophy	HP:0040282	ORPHA:551
4558	MT-TF	HP:0000648	Optic atrophy	HP:0040283	ORPHA:550
4558	MT-TF	HP:0001945	Fever	HP:0040283	ORPHA:550
4558	MT-TF	HP:0000602	Ophthalmoplegia	-	OMIM:540000
4558	MT-TF	HP:0001903	Anemia	HP:0040283	ORPHA:550
4558	MT-TF	HP:0004322	Short stature	HP:0040282	ORPHA:551
4558	MT-TF	HP:0004322	Short stature	HP:0040282	ORPHA:550
4558	MT-TF	HP:0004389	Intestinal pseudo-obstruction	HP:0040283	ORPHA:550
4558	MT-TF	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:550
4558	MT-TF	HP:0000751	Personality changes	HP:0040283	ORPHA:550
4558	MT-TF	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:551
4558	MT-TF	HP:0100027	Recurrent pancreatitis	HP:0040283	ORPHA:550
4558	MT-TF	HP:0000739	Anxiety	HP:0040282	ORPHA:550
4558	MT-TF	HP:0000736	Short attention span	HP:0040282	ORPHA:550
4558	MT-TF	HP:0012707	Elevated brain lactate level by MRS	HP:0040283	ORPHA:550
4558	MT-TF	HP:0000716	Depression	HP:0040282	ORPHA:550
4558	MT-TF	HP:0000726	Dementia	-	OMIM:540000
4558	MT-TF	HP:0000726	Dementia	HP:0040281	ORPHA:550
4558	MT-TF	HP:0000709	Psychosis	HP:0040282	ORPHA:550
4558	MT-TF	HP:0012766	Widened cerebral subarachnoid space	HP:0040281	ORPHA:550
4558	MT-TF	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:550
4558	MT-TF	HP:0003198	Myopathy	-	OMIM:540000
4558	MT-TF	HP:0003198	Myopathy	-	OMIM:545000
4558	MT-TF	HP:0003198	Myopathy	HP:0040281	ORPHA:551
4558	MT-TF	HP:0003198	Myopathy	HP:0040282	ORPHA:550
4558	MT-TF	HP:0003128	Lactic acidosis	-	OMIM:540000
4558	MT-TF	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:550
4558	MT-TF	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:550
4558	MT-TF	HP:0000819	Diabetes mellitus	-	OMIM:540000
4558	MT-TF	HP:0000829	Hypoparathyroidism	HP:0040284	ORPHA:550
4558	MT-TF	HP:0000822	Hypertension	-	OMIM:540000
4558	MT-TF	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:550
4558	MT-TF	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:551
4558	MT-TF	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:550
4558	MT-TF	HP:0003200	Ragged-red muscle fibers	-	OMIM:540000
4558	MT-TF	HP:0003200	Ragged-red muscle fibers	-	OMIM:545000
4558	MT-TF	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:550
4558	MT-TF	HP:0011675	Arrhythmia	-	OMIM:540000
4558	MT-TF	HP:0001508	Failure to thrive	HP:0040283	ORPHA:550
4558	MT-TF	HP:0001507	Growth abnormality	-	OMIM:540000
4558	MT-TF	HP:0012377	Hemianopia	-	OMIM:540000
4558	MT-TF	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:550
4558	MT-TF	HP:0005157	Concentric hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4558	MT-TF	HP:0005162	Abnormal left ventricular function	-	OMIM:540000
4558	MT-TF	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:550
4558	MT-TF	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4558	MT-TF	HP:0001635	Congestive heart failure	-	OMIM:540000
4558	MT-TF	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:550
4558	MT-TF	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:540000
4558	MT-TF	HP:0000407	Sensorineural hearing impairment	-	OMIM:545000
4558	MT-TF	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:551
4558	MT-TF	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:550
4558	MT-TF	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:540000
4558	MT-TF	HP:0001716	Wolff-Parkinson-White syndrome	HP:0040283	ORPHA:550
4558	MT-TF	HP:0001712	Left ventricular hypertrophy	-	OMIM:540000
4558	MT-TF	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:550
4558	MT-TF	HP:0012444	Brain atrophy	HP:0040283	ORPHA:550
4558	MT-TF	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	HP:0040281	ORPHA:550
4558	MT-TF	HP:0000519	Developmental cataract	-	OMIM:540000
4558	MT-TF	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:550
4558	MT-TF	HP:0000590	Progressive external ophthalmoplegia	HP:0040283	ORPHA:550
4558	MT-TF	HP:0000572	Visual loss	HP:0040282	ORPHA:550
4564	MT-TH	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:550
4564	MT-TH	HP:0007327	Mixed demyelinating and axonal polyneuropathy	HP:0040283	ORPHA:550
4564	MT-TH	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:550
4564	MT-TH	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:540000
4564	MT-TH	HP:0003737	Mitochondrial myopathy	-	OMIM:540000
4564	MT-TH	HP:0002401	Stroke-like episode	-	OMIM:540000
4564	MT-TH	HP:0002401	Stroke-like episode	HP:0040281	ORPHA:550
4564	MT-TH	HP:0001298	Encephalopathy	HP:0040282	ORPHA:550
4564	MT-TH	HP:0001298	Encephalopathy	-	OMIM:540000
4564	MT-TH	HP:0025268	Stuttering	HP:0040283	ORPHA:550
4564	MT-TH	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:550
4564	MT-TH	HP:0001270	Motor delay	HP:0040283	ORPHA:550
4564	MT-TH	HP:0001269	Hemiparesis	HP:0040282	ORPHA:550
4564	MT-TH	HP:0001269	Hemiparesis	-	OMIM:540000
4564	MT-TH	HP:0001288	Gait disturbance	HP:0040282	ORPHA:550
4564	MT-TH	HP:0001250	Seizure	-	OMIM:545000
4564	MT-TH	HP:0001250	Seizure	HP:0040281	ORPHA:550
4564	MT-TH	HP:0001251	Ataxia	-	OMIM:545000
4564	MT-TH	HP:0001251	Ataxia	HP:0040281	ORPHA:551
4564	MT-TH	HP:0001251	Ataxia	HP:0040282	ORPHA:550
4564	MT-TH	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:550
4564	MT-TH	HP:0001263	Global developmental delay	HP:0040283	ORPHA:550
4564	MT-TH	HP:0001257	Spasticity	-	OMIM:545000
4564	MT-TH	HP:0002572	Episodic vomiting	-	OMIM:540000
4564	MT-TH	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:550
4564	MT-TH	HP:0003828	Variable expressivity	-	OMIM:540000
4564	MT-TH	HP:0000097	Focal segmental glomerulosclerosis	HP:0040283	ORPHA:550
4564	MT-TH	HP:0000093	Proteinuria	HP:0040283	ORPHA:550
4564	MT-TH	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:550
4564	MT-TH	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:550
4564	MT-TH	HP:0001328	Specific learning disability	HP:0040282	ORPHA:550
4564	MT-TH	HP:0001324	Muscle weakness	-	OMIM:545000
4564	MT-TH	HP:0001324	Muscle weakness	HP:0040281	ORPHA:550
4564	MT-TH	HP:0001336	Myoclonus	-	OMIM:545000
4564	MT-TH	HP:0001336	Myoclonus	HP:0040282	ORPHA:550
4564	MT-TH	HP:0000114	Proximal tubulopathy	HP:0040283	ORPHA:550
4564	MT-TH	HP:0001427	Mitochondrial inheritance	-	OMIM:540000
4564	MT-TH	HP:0001427	Mitochondrial inheritance	-	OMIM:545000
4564	MT-TH	HP:0000112	Nephropathy	HP:0040283	ORPHA:550
4564	MT-TH	HP:0002019	Constipation	HP:0040283	ORPHA:550
4564	MT-TH	HP:0002014	Diarrhea	HP:0040283	ORPHA:550
4564	MT-TH	HP:0002013	Vomiting	HP:0040282	ORPHA:550
4564	MT-TH	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:550
4564	MT-TH	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:551
4564	MT-TH	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:550
4564	MT-TH	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:540000
4564	MT-TH	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:550
4564	MT-TH	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:550
4564	MT-TH	HP:0002076	Migraine	HP:0040281	ORPHA:550
4564	MT-TH	HP:0002076	Migraine	-	OMIM:540000
4564	MT-TH	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:550
4564	MT-TH	HP:0002151	Increased circulating lactate concentration	-	OMIM:545000
4564	MT-TH	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:550
4564	MT-TH	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:551
4564	MT-TH	HP:0002123	Generalized myoclonic seizure	-	OMIM:545000
4564	MT-TH	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:550
4564	MT-TH	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:550
4564	MT-TH	HP:0003457	EMG abnormality	HP:0040281	ORPHA:551
4564	MT-TH	HP:0100704	Cerebral visual impairment	-	OMIM:540000
4564	MT-TH	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:550
4564	MT-TH	HP:0003542	Increased circulating pyruvate concentration	-	OMIM:545000
4564	MT-TH	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:550
4564	MT-TH	HP:0007067	Distal peripheral sensory neuropathy	HP:0040283	ORPHA:550
4564	MT-TH	HP:0002381	Aphasia	HP:0040281	ORPHA:550
4564	MT-TH	HP:0001045	Vitiligo	HP:0040283	ORPHA:550
4564	MT-TH	HP:0001012	Multiple lipomas	HP:0040282	ORPHA:551
4564	MT-TH	HP:0002353	EEG abnormality	HP:0040281	ORPHA:550
4564	MT-TH	HP:0002354	Memory impairment	HP:0040282	ORPHA:550
4564	MT-TH	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:550
4564	MT-TH	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:550
4564	MT-TH	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:550
4564	MT-TH	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:550
4564	MT-TH	HP:0007159	Fluctuations in consciousness	HP:0040282	ORPHA:550
4564	MT-TH	HP:0010783	Erythema	HP:0040283	ORPHA:550
4564	MT-TH	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:550
4564	MT-TH	HP:0000648	Optic atrophy	HP:0040282	ORPHA:551
4564	MT-TH	HP:0000648	Optic atrophy	HP:0040283	ORPHA:550
4564	MT-TH	HP:0001945	Fever	HP:0040283	ORPHA:550
4564	MT-TH	HP:0000602	Ophthalmoplegia	-	OMIM:540000
4564	MT-TH	HP:0001903	Anemia	HP:0040283	ORPHA:550
4564	MT-TH	HP:0004322	Short stature	HP:0040282	ORPHA:551
4564	MT-TH	HP:0004322	Short stature	HP:0040282	ORPHA:550
4564	MT-TH	HP:0004389	Intestinal pseudo-obstruction	HP:0040283	ORPHA:550
4564	MT-TH	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:550
4564	MT-TH	HP:0000751	Personality changes	HP:0040283	ORPHA:550
4564	MT-TH	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:551
4564	MT-TH	HP:0100027	Recurrent pancreatitis	HP:0040283	ORPHA:550
4564	MT-TH	HP:0000739	Anxiety	HP:0040282	ORPHA:550
4564	MT-TH	HP:0000736	Short attention span	HP:0040282	ORPHA:550
4564	MT-TH	HP:0012707	Elevated brain lactate level by MRS	HP:0040283	ORPHA:550
4564	MT-TH	HP:0000716	Depression	HP:0040282	ORPHA:550
4564	MT-TH	HP:0000726	Dementia	-	OMIM:540000
4564	MT-TH	HP:0000726	Dementia	HP:0040281	ORPHA:550
4564	MT-TH	HP:0000709	Psychosis	HP:0040282	ORPHA:550
4564	MT-TH	HP:0012766	Widened cerebral subarachnoid space	HP:0040281	ORPHA:550
4564	MT-TH	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:550
4564	MT-TH	HP:0003198	Myopathy	-	OMIM:540000
4564	MT-TH	HP:0003198	Myopathy	-	OMIM:545000
4564	MT-TH	HP:0003198	Myopathy	HP:0040281	ORPHA:551
4564	MT-TH	HP:0003198	Myopathy	HP:0040282	ORPHA:550
4564	MT-TH	HP:0003128	Lactic acidosis	-	OMIM:540000
4564	MT-TH	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:550
4564	MT-TH	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:550
4564	MT-TH	HP:0000819	Diabetes mellitus	-	OMIM:540000
4564	MT-TH	HP:0000829	Hypoparathyroidism	HP:0040284	ORPHA:550
4564	MT-TH	HP:0000822	Hypertension	-	OMIM:540000
4564	MT-TH	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:550
4564	MT-TH	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:551
4564	MT-TH	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:550
4564	MT-TH	HP:0003200	Ragged-red muscle fibers	-	OMIM:540000
4564	MT-TH	HP:0003200	Ragged-red muscle fibers	-	OMIM:545000
4564	MT-TH	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:550
4564	MT-TH	HP:0011675	Arrhythmia	-	OMIM:540000
4564	MT-TH	HP:0001508	Failure to thrive	HP:0040283	ORPHA:550
4564	MT-TH	HP:0001507	Growth abnormality	-	OMIM:540000
4564	MT-TH	HP:0012377	Hemianopia	-	OMIM:540000
4564	MT-TH	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:550
4564	MT-TH	HP:0005157	Concentric hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4564	MT-TH	HP:0005162	Abnormal left ventricular function	-	OMIM:540000
4564	MT-TH	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:550
4564	MT-TH	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4564	MT-TH	HP:0001635	Congestive heart failure	-	OMIM:540000
4564	MT-TH	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:550
4564	MT-TH	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:540000
4564	MT-TH	HP:0000407	Sensorineural hearing impairment	-	OMIM:545000
4564	MT-TH	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:551
4564	MT-TH	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:550
4564	MT-TH	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:540000
4564	MT-TH	HP:0001716	Wolff-Parkinson-White syndrome	HP:0040283	ORPHA:550
4564	MT-TH	HP:0001712	Left ventricular hypertrophy	-	OMIM:540000
4564	MT-TH	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:550
4564	MT-TH	HP:0012444	Brain atrophy	HP:0040283	ORPHA:550
4564	MT-TH	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	HP:0040281	ORPHA:550
4564	MT-TH	HP:0000519	Developmental cataract	-	OMIM:540000
4564	MT-TH	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:550
4564	MT-TH	HP:0000590	Progressive external ophthalmoplegia	HP:0040283	ORPHA:550
4564	MT-TH	HP:0000572	Visual loss	HP:0040282	ORPHA:550
4565	MT-TI	HP:0001250	Seizure	-	OMIM:545000
4565	MT-TI	HP:0001251	Ataxia	-	OMIM:545000
4565	MT-TI	HP:0001257	Spasticity	-	OMIM:545000
4565	MT-TI	HP:0001324	Muscle weakness	-	OMIM:545000
4565	MT-TI	HP:0001336	Myoclonus	-	OMIM:545000
4565	MT-TI	HP:0001427	Mitochondrial inheritance	-	OMIM:545000
4565	MT-TI	HP:0002151	Increased circulating lactate concentration	-	OMIM:545000
4565	MT-TI	HP:0002123	Generalized myoclonic seizure	-	OMIM:545000
4565	MT-TI	HP:0003542	Increased circulating pyruvate concentration	-	OMIM:545000
4565	MT-TI	HP:0003198	Myopathy	-	OMIM:545000
4565	MT-TI	HP:0003200	Ragged-red muscle fibers	-	OMIM:545000
4565	MT-TI	HP:0000407	Sensorineural hearing impairment	-	OMIM:545000
4566	MT-TK	HP:0002483	Bulbar signs	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:255210
4566	MT-TK	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:540000
4566	MT-TK	HP:0003737	Mitochondrial myopathy	-	OMIM:540000
4566	MT-TK	HP:0003737	Mitochondrial myopathy	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0002401	Stroke-like episode	-	OMIM:540000
4566	MT-TK	HP:0001298	Encephalopathy	-	OMIM:540000
4566	MT-TK	HP:0001298	Encephalopathy	HP:0040282	ORPHA:1349
4566	MT-TK	HP:0001276	Hypertonia	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0001269	Hemiparesis	-	OMIM:540000
4566	MT-TK	HP:0001268	Mental deterioration	HP:0040282	ORPHA:1349
4566	MT-TK	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1349
4566	MT-TK	HP:0001250	Seizure	-	OMIM:545000
4566	MT-TK	HP:0001250	Seizure	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0001251	Ataxia	-	OMIM:545000
4566	MT-TK	HP:0001251	Ataxia	HP:0040281	ORPHA:551
4566	MT-TK	HP:0001251	Ataxia	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0001251	Ataxia	HP:0040281	ORPHA:1349
4566	MT-TK	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0001257	Spasticity	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0001257	Spasticity	-	OMIM:545000
4566	MT-TK	HP:0002572	Episodic vomiting	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0002572	Episodic vomiting	-	OMIM:540000
4566	MT-TK	HP:0003828	Variable expressivity	-	OMIM:540000
4566	MT-TK	HP:0000091	Abnormal renal tubule morphology	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0001399	Hepatic failure	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0001350	Slurred speech	HP:0040281	ORPHA:1349
4566	MT-TK	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:1349
4566	MT-TK	HP:0001332	Dystonia	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0001324	Muscle weakness	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0001324	Muscle weakness	-	OMIM:545000
4566	MT-TK	HP:0001324	Muscle weakness	HP:0040281	ORPHA:1349
4566	MT-TK	HP:0001336	Myoclonus	-	OMIM:545000
4566	MT-TK	HP:0008947	Floppy infant	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0001427	Mitochondrial inheritance	-	OMIM:540000
4566	MT-TK	HP:0001427	Mitochondrial inheritance	-	OMIM:545000
4566	MT-TK	HP:0003348	Hyperalaninemia	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0003326	Myalgia	HP:0040283	ORPHA:1349
4566	MT-TK	HP:0002015	Dysphagia	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:551
4566	MT-TK	HP:0002094	Dyspnea	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0002094	Dyspnea	HP:0040282	ORPHA:1349
4566	MT-TK	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:540000
4566	MT-TK	HP:0002066	Gait ataxia	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0002076	Migraine	-	OMIM:540000
4566	MT-TK	HP:0002072	Chorea	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0002045	Hypothermia	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0002151	Increased circulating lactate concentration	-	OMIM:545000
4566	MT-TK	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:1349
4566	MT-TK	HP:0003481	Segmental peripheral demyelination/remyelination	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:551
4566	MT-TK	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0002123	Generalized myoclonic seizure	-	OMIM:545000
4566	MT-TK	HP:0003457	EMG abnormality	HP:0040281	ORPHA:551
4566	MT-TK	HP:0003457	EMG abnormality	HP:0040282	ORPHA:1349
4566	MT-TK	HP:0002104	Apnea	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0003572	Low plasma citrulline	HP:0040284	ORPHA:255210
4566	MT-TK	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0100704	Cerebral visual impairment	-	OMIM:540000
4566	MT-TK	HP:0004885	Episodic respiratory distress	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:1349
4566	MT-TK	HP:0003542	Increased circulating pyruvate concentration	HP:0040282	ORPHA:1349
4566	MT-TK	HP:0003542	Increased circulating pyruvate concentration	-	OMIM:545000
4566	MT-TK	HP:0100749	Chest pain	HP:0040283	ORPHA:1349
4566	MT-TK	HP:0002376	Developmental regression	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1349
4566	MT-TK	HP:0001012	Multiple lipomas	HP:0040282	ORPHA:551
4566	MT-TK	HP:0001012	Multiple lipomas	HP:0040283	ORPHA:1349
4566	MT-TK	HP:0003648	Lacticaciduria	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0100660	Dyskinesia	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:1349
4566	MT-TK	HP:0100611	Multiple glomerular cysts	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0007183	Focal T2 hyperintense basal ganglia lesion	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0000639	Nystagmus	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0000648	Optic atrophy	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0000648	Optic atrophy	HP:0040282	ORPHA:551
4566	MT-TK	HP:0001945	Fever	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0000602	Ophthalmoplegia	-	OMIM:540000
4566	MT-TK	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0011342	Mild global developmental delay	HP:0040281	ORPHA:1349
4566	MT-TK	HP:0004322	Short stature	HP:0040282	ORPHA:551
4566	MT-TK	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1349
4566	MT-TK	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:551
4566	MT-TK	HP:0000726	Dementia	-	OMIM:540000
4566	MT-TK	HP:0009126	Increased adipose tissue	HP:0040283	ORPHA:1349
4566	MT-TK	HP:0003198	Myopathy	-	OMIM:540000
4566	MT-TK	HP:0003198	Myopathy	-	OMIM:545000
4566	MT-TK	HP:0003198	Myopathy	HP:0040281	ORPHA:551
4566	MT-TK	HP:0003128	Lactic acidosis	-	OMIM:540000
4566	MT-TK	HP:0000819	Diabetes mellitus	-	OMIM:540000
4566	MT-TK	HP:0000816	Abnormality of Krebs cycle metabolism	HP:0040281	ORPHA:255210
4566	MT-TK	HP:0000822	Hypertension	-	OMIM:540000
4566	MT-TK	HP:0000822	Hypertension	HP:0040283	ORPHA:1349
4566	MT-TK	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:551
4566	MT-TK	HP:0003200	Ragged-red muscle fibers	HP:0040284	ORPHA:255210
4566	MT-TK	HP:0003200	Ragged-red muscle fibers	-	OMIM:540000
4566	MT-TK	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:1349
4566	MT-TK	HP:0003200	Ragged-red muscle fibers	-	OMIM:545000
4566	MT-TK	HP:0011675	Arrhythmia	-	OMIM:540000
4566	MT-TK	HP:0002883	Hyperventilation	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0001508	Failure to thrive	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0001507	Growth abnormality	-	OMIM:540000
4566	MT-TK	HP:0012378	Fatigue	HP:0040283	ORPHA:1349
4566	MT-TK	HP:0012377	Hemianopia	-	OMIM:540000
4566	MT-TK	HP:0005162	Abnormal left ventricular function	-	OMIM:540000
4566	MT-TK	HP:0031434	Abnormal prosody	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:1349
4566	MT-TK	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:1349
4566	MT-TK	HP:0001635	Congestive heart failure	-	OMIM:540000
4566	MT-TK	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:1349
4566	MT-TK	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:540000
4566	MT-TK	HP:0000407	Sensorineural hearing impairment	-	OMIM:545000
4566	MT-TK	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:551
4566	MT-TK	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:1349
4566	MT-TK	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:540000
4566	MT-TK	HP:0001712	Left ventricular hypertrophy	-	OMIM:540000
4566	MT-TK	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0012469	Infantile spasms	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0000519	Developmental cataract	-	OMIM:540000
4566	MT-TK	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:255210
4566	MT-TK	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:1349
4566	MT-TK	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:255210
4566	MT-TK	HP:0000590	Progressive external ophthalmoplegia	HP:0040282	ORPHA:1349
4566	MT-TK	HP:0012514	Lower limb pain	HP:0040282	ORPHA:1349
4567	MT-TL1	HP:0002483	Bulbar signs	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:255210
4567	MT-TL1	HP:0002490	Increased CSF lactate	HP:0040283	ORPHA:324525
4567	MT-TL1	HP:0007327	Mixed demyelinating and axonal polyneuropathy	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:540000
4567	MT-TL1	HP:0003737	Mitochondrial myopathy	-	OMIM:540000
4567	MT-TL1	HP:0003737	Mitochondrial myopathy	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0002401	Stroke-like episode	-	OMIM:540000
4567	MT-TL1	HP:0002401	Stroke-like episode	HP:0040281	ORPHA:550
4567	MT-TL1	HP:0001298	Encephalopathy	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0001298	Encephalopathy	-	OMIM:540000
4567	MT-TL1	HP:0025268	Stuttering	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0001276	Hypertonia	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0001270	Motor delay	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0001269	Hemiparesis	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0001269	Hemiparesis	-	OMIM:540000
4567	MT-TL1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:663
4567	MT-TL1	HP:0001250	Seizure	-	OMIM:545000
4567	MT-TL1	HP:0001250	Seizure	HP:0040281	ORPHA:550
4567	MT-TL1	HP:0001250	Seizure	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0001250	Seizure	HP:0040283	ORPHA:324525
4567	MT-TL1	HP:0001252	Hypotonia	HP:0040282	ORPHA:480
4567	MT-TL1	HP:0001251	Ataxia	-	OMIM:545000
4567	MT-TL1	HP:0001251	Ataxia	HP:0040281	ORPHA:551
4567	MT-TL1	HP:0001251	Ataxia	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0001251	Ataxia	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0001251	Ataxia	HP:0040282	ORPHA:480
4567	MT-TL1	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:324525
4567	MT-TL1	HP:0001257	Spasticity	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0001257	Spasticity	-	OMIM:545000
4567	MT-TL1	HP:0002572	Episodic vomiting	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0002572	Episodic vomiting	-	OMIM:540000
4567	MT-TL1	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:324525
4567	MT-TL1	HP:0003828	Variable expressivity	-	OMIM:540000
4567	MT-TL1	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	HP:0040281	ORPHA:663
4567	MT-TL1	HP:0000097	Focal segmental glomerulosclerosis	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0000091	Abnormal renal tubule morphology	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0000093	Proteinuria	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0001399	Hepatic failure	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:550
4567	MT-TL1	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:663
4567	MT-TL1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:324525
4567	MT-TL1	HP:0001332	Dystonia	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0001324	Muscle weakness	-	OMIM:545000
4567	MT-TL1	HP:0001324	Muscle weakness	HP:0040283	ORPHA:480
4567	MT-TL1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:550
4567	MT-TL1	HP:0001337	Tremor	HP:0040283	ORPHA:480
4567	MT-TL1	HP:0001336	Myoclonus	-	OMIM:545000
4567	MT-TL1	HP:0001336	Myoclonus	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:480
4567	MT-TL1	HP:0008947	Floppy infant	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0008947	Floppy infant	HP:0040282	ORPHA:324525
4567	MT-TL1	HP:0000114	Proximal tubulopathy	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0001427	Mitochondrial inheritance	-	OMIM:540000
4567	MT-TL1	HP:0001427	Mitochondrial inheritance	-	OMIM:545000
4567	MT-TL1	HP:0000112	Nephropathy	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:480
4567	MT-TL1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:663
4567	MT-TL1	HP:0002019	Constipation	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0003348	Hyperalaninemia	HP:0040283	ORPHA:324525
4567	MT-TL1	HP:0003348	Hyperalaninemia	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:663
4567	MT-TL1	HP:0002014	Diarrhea	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0002015	Dysphagia	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0002015	Dysphagia	HP:0040283	ORPHA:480
4567	MT-TL1	HP:0002013	Vomiting	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0004622	Progressive intervertebral space narrowing	HP:0040282	ORPHA:480
4567	MT-TL1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:480
4567	MT-TL1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:551
4567	MT-TL1	HP:0002094	Dyspnea	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:324525
4567	MT-TL1	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:663
4567	MT-TL1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:540000
4567	MT-TL1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0002076	Migraine	HP:0040281	ORPHA:550
4567	MT-TL1	HP:0002076	Migraine	-	OMIM:540000
4567	MT-TL1	HP:0002072	Chorea	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0002045	Hypothermia	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:324525
4567	MT-TL1	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:663
4567	MT-TL1	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0002151	Increased circulating lactate concentration	-	OMIM:545000
4567	MT-TL1	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:550
4567	MT-TL1	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:663
4567	MT-TL1	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:324525
4567	MT-TL1	HP:0003481	Segmental peripheral demyelination/remyelination	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:551
4567	MT-TL1	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0002123	Generalized myoclonic seizure	-	OMIM:545000
4567	MT-TL1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0003457	EMG abnormality	HP:0040281	ORPHA:551
4567	MT-TL1	HP:0003457	EMG abnormality	HP:0040282	ORPHA:663
4567	MT-TL1	HP:0003457	EMG abnormality	HP:0040282	ORPHA:480
4567	MT-TL1	HP:0002104	Apnea	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0011924	Decreased activity of mitochondrial complex III	HP:0040283	ORPHA:324525
4567	MT-TL1	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040282	ORPHA:324525
4567	MT-TL1	HP:0003572	Low plasma citrulline	HP:0040284	ORPHA:255210
4567	MT-TL1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0100704	Cerebral visual impairment	-	OMIM:540000
4567	MT-TL1	HP:0004885	Episodic respiratory distress	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:480
4567	MT-TL1	HP:0003542	Increased circulating pyruvate concentration	-	OMIM:545000
4567	MT-TL1	HP:0003535	3-Methylglutaconic aciduria	HP:0040283	ORPHA:324525
4567	MT-TL1	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040282	ORPHA:663
4567	MT-TL1	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:550
4567	MT-TL1	HP:0007067	Distal peripheral sensory neuropathy	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0002381	Aphasia	HP:0040281	ORPHA:550
4567	MT-TL1	HP:0001045	Vitiligo	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0002376	Developmental regression	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0001012	Multiple lipomas	HP:0040282	ORPHA:551
4567	MT-TL1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:550
4567	MT-TL1	HP:0002354	Memory impairment	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0003648	Lacticaciduria	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0100660	Dyskinesia	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0100611	Multiple glomerular cysts	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0007159	Fluctuations in consciousness	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0010783	Erythema	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0007183	Focal T2 hyperintense basal ganglia lesion	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0009073	Progressive proximal muscle weakness	HP:0040282	ORPHA:663
4567	MT-TL1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:324525
4567	MT-TL1	HP:0012622	Chronic kidney disease	HP:0040283	ORPHA:480
4567	MT-TL1	HP:0000639	Nystagmus	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0000651	Diplopia	-	ORPHA:663
4567	MT-TL1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:551
4567	MT-TL1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0001947	Renal tubular acidosis	HP:0040283	ORPHA:324525
4567	MT-TL1	HP:0001947	Renal tubular acidosis	HP:0040283	ORPHA:480
4567	MT-TL1	HP:0001945	Fever	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0001945	Fever	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0000602	Ophthalmoplegia	-	OMIM:540000
4567	MT-TL1	HP:0001903	Anemia	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0004322	Short stature	HP:0040282	ORPHA:551
4567	MT-TL1	HP:0004322	Short stature	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0004322	Short stature	HP:0040283	ORPHA:480
4567	MT-TL1	HP:0004322	Short stature	HP:0040283	ORPHA:324525
4567	MT-TL1	HP:0004389	Intestinal pseudo-obstruction	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:480
4567	MT-TL1	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0000751	Personality changes	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:551
4567	MT-TL1	HP:0100027	Recurrent pancreatitis	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0000739	Anxiety	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0000736	Short attention span	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0012707	Elevated brain lactate level by MRS	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0000716	Depression	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0000716	Depression	HP:0040283	ORPHA:663
4567	MT-TL1	HP:0000726	Dementia	-	OMIM:540000
4567	MT-TL1	HP:0000726	Dementia	HP:0040283	ORPHA:480
4567	MT-TL1	HP:0000726	Dementia	HP:0040281	ORPHA:550
4567	MT-TL1	HP:0000709	Psychosis	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0012766	Widened cerebral subarachnoid space	HP:0040281	ORPHA:550
4567	MT-TL1	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0003198	Myopathy	-	OMIM:540000
4567	MT-TL1	HP:0003198	Myopathy	-	OMIM:545000
4567	MT-TL1	HP:0003198	Myopathy	HP:0040281	ORPHA:551
4567	MT-TL1	HP:0003198	Myopathy	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0003128	Lactic acidosis	-	OMIM:540000
4567	MT-TL1	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:550
4567	MT-TL1	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:480
4567	MT-TL1	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0000819	Diabetes mellitus	-	OMIM:540000
4567	MT-TL1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:480
4567	MT-TL1	HP:0000816	Abnormality of Krebs cycle metabolism	HP:0040281	ORPHA:255210
4567	MT-TL1	HP:0000829	Hypoparathyroidism	HP:0040284	ORPHA:550
4567	MT-TL1	HP:0000829	Hypoparathyroidism	HP:0040283	ORPHA:480
4567	MT-TL1	HP:0000822	Hypertension	-	OMIM:540000
4567	MT-TL1	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:550
4567	MT-TL1	HP:0000821	Hypothyroidism	HP:0040282	ORPHA:663
4567	MT-TL1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:480
4567	MT-TL1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:324525
4567	MT-TL1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:480
4567	MT-TL1	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:551
4567	MT-TL1	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:550
4567	MT-TL1	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:663
4567	MT-TL1	HP:0003200	Ragged-red muscle fibers	HP:0040284	ORPHA:255210
4567	MT-TL1	HP:0003200	Ragged-red muscle fibers	-	OMIM:540000
4567	MT-TL1	HP:0003200	Ragged-red muscle fibers	-	OMIM:545000
4567	MT-TL1	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:480
4567	MT-TL1	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0011675	Arrhythmia	-	OMIM:540000
4567	MT-TL1	HP:0002883	Hyperventilation	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:324525
4567	MT-TL1	HP:0001507	Growth abnormality	-	OMIM:540000
4567	MT-TL1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:324525
4567	MT-TL1	HP:0012377	Hemianopia	-	OMIM:540000
4567	MT-TL1	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:480
4567	MT-TL1	HP:0005157	Concentric hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0005162	Abnormal left ventricular function	-	OMIM:540000
4567	MT-TL1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:480
4567	MT-TL1	HP:0031434	Abnormal prosody	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0001635	Congestive heart failure	-	OMIM:540000
4567	MT-TL1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:480
4567	MT-TL1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:324525
4567	MT-TL1	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:540000
4567	MT-TL1	HP:0000407	Sensorineural hearing impairment	-	OMIM:545000
4567	MT-TL1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:551
4567	MT-TL1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:550
4567	MT-TL1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0001709	Third degree atrioventricular block	HP:0040281	ORPHA:480
4567	MT-TL1	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:540000
4567	MT-TL1	HP:0001716	Wolff-Parkinson-White syndrome	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0001712	Left ventricular hypertrophy	-	OMIM:540000
4567	MT-TL1	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0012469	Infantile spasms	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:480
4567	MT-TL1	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	HP:0040281	ORPHA:550
4567	MT-TL1	HP:0000519	Developmental cataract	-	OMIM:540000
4567	MT-TL1	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:255210
4567	MT-TL1	HP:0000508	Ptosis	HP:0040282	ORPHA:480
4567	MT-TL1	HP:0000508	Ptosis	HP:0040282	ORPHA:663
4567	MT-TL1	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:255210
4567	MT-TL1	HP:0000580	Pigmentary retinopathy	HP:0040281	ORPHA:480
4567	MT-TL1	HP:0000590	Progressive external ophthalmoplegia	HP:0040283	ORPHA:550
4567	MT-TL1	HP:0000590	Progressive external ophthalmoplegia	HP:0040281	ORPHA:663
4567	MT-TL1	HP:0000590	Progressive external ophthalmoplegia	HP:0040281	ORPHA:480
4567	MT-TL1	HP:0000572	Visual loss	HP:0040282	ORPHA:550
4568	MT-TL2	HP:0002483	Bulbar signs	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:540000
4568	MT-TL2	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0003737	Mitochondrial myopathy	-	OMIM:540000
4568	MT-TL2	HP:0002401	Stroke-like episode	-	OMIM:540000
4568	MT-TL2	HP:0001298	Encephalopathy	-	OMIM:540000
4568	MT-TL2	HP:0001269	Hemiparesis	-	OMIM:540000
4568	MT-TL2	HP:0001284	Areflexia	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:663
4568	MT-TL2	HP:0001250	Seizure	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0001252	Hypotonia	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0001251	Ataxia	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0002579	Gastrointestinal dysmotility	HP:0040281	ORPHA:2131
4568	MT-TL2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0001260	Dysarthria	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0002572	Episodic vomiting	-	OMIM:540000
4568	MT-TL2	HP:0410263	Brain imaging abnormality	-	ORPHA:2131
4568	MT-TL2	HP:0003828	Variable expressivity	-	OMIM:540000
4568	MT-TL2	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	HP:0040281	ORPHA:663
4568	MT-TL2	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:663
4568	MT-TL2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0001332	Dystonia	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0001337	Tremor	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0012194	Episodic hemiplegia	HP:0040281	ORPHA:2131
4568	MT-TL2	HP:0031284	Flushing	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0001427	Mitochondrial inheritance	-	OMIM:540000
4568	MT-TL2	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:663
4568	MT-TL2	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0002019	Constipation	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:663
4568	MT-TL2	HP:0002014	Diarrhea	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0002015	Dysphagia	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0002013	Vomiting	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0002098	Respiratory distress	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:663
4568	MT-TL2	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:540000
4568	MT-TL2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0002063	Rigidity	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0002076	Migraine	-	OMIM:540000
4568	MT-TL2	HP:0002072	Chorea	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0002039	Anorexia	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:663
4568	MT-TL2	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:663
4568	MT-TL2	HP:0002133	Status epilepticus	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0003457	EMG abnormality	HP:0040282	ORPHA:663
4568	MT-TL2	HP:0002104	Apnea	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0002263	Exaggerated cupid's bow	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0002273	Tetraparesis	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0100704	Cerebral visual impairment	-	OMIM:540000
4568	MT-TL2	HP:0100710	Impulsivity	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040282	ORPHA:663
4568	MT-TL2	HP:0002344	Progressive neurologic deterioration	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0002353	EEG abnormality	-	ORPHA:2131
4568	MT-TL2	HP:0002315	Headache	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0007166	Paroxysmal dyskinesia	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0009073	Progressive proximal muscle weakness	HP:0040282	ORPHA:663
4568	MT-TL2	HP:0000639	Nystagmus	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0000651	Diplopia	-	ORPHA:663
4568	MT-TL2	HP:0001944	Dehydration	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0000602	Ophthalmoplegia	-	OMIM:540000
4568	MT-TL2	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0031931	Ocular flutter	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0000716	Depression	HP:0040283	ORPHA:663
4568	MT-TL2	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0000712	Emotional lability	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0000726	Dementia	-	OMIM:540000
4568	MT-TL2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0011499	Mydriasis	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0003198	Myopathy	-	OMIM:540000
4568	MT-TL2	HP:0003128	Lactic acidosis	-	OMIM:540000
4568	MT-TL2	HP:0000819	Diabetes mellitus	-	OMIM:540000
4568	MT-TL2	HP:0000822	Hypertension	-	OMIM:540000
4568	MT-TL2	HP:0000821	Hypothyroidism	HP:0040282	ORPHA:663
4568	MT-TL2	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:663
4568	MT-TL2	HP:0003200	Ragged-red muscle fibers	-	OMIM:540000
4568	MT-TL2	HP:0003270	Abdominal distention	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0045074	Thin eyebrow	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0000980	Pallor	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0011675	Arrhythmia	-	OMIM:540000
4568	MT-TL2	HP:0011675	Arrhythmia	HP:0040284	ORPHA:2131
4568	MT-TL2	HP:0000297	Facial hypotonia	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0005135	Abnormal T-wave	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0032649	Skewfoot	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0001507	Growth abnormality	-	OMIM:540000
4568	MT-TL2	HP:0002835	Aspiration	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0012377	Hemianopia	-	OMIM:540000
4568	MT-TL2	HP:0005162	Abnormal left ventricular function	-	OMIM:540000
4568	MT-TL2	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040281	ORPHA:2131
4568	MT-TL2	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0000348	High forehead	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0001635	Congestive heart failure	-	OMIM:540000
4568	MT-TL2	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:2131
4568	MT-TL2	HP:0011153	Focal motor seizure	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:540000
4568	MT-TL2	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:540000
4568	MT-TL2	HP:0001712	Left ventricular hypertrophy	-	OMIM:540000
4568	MT-TL2	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:2131
4568	MT-TL2	HP:0000519	Developmental cataract	-	OMIM:540000
4568	MT-TL2	HP:0000508	Ptosis	HP:0040282	ORPHA:663
4568	MT-TL2	HP:0000577	Exotropia	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0000590	Progressive external ophthalmoplegia	HP:0040281	ORPHA:663
4568	MT-TL2	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:2131
4568	MT-TL2	HP:0000565	Esotropia	HP:0040282	ORPHA:2131
4570	MT-TN	HP:0002490	Increased CSF lactate	-	OMIM:220110
4570	MT-TN	HP:0001290	Generalized hypotonia	11/11	OMIM:220110
4570	MT-TN	HP:0001270	Motor delay	-	OMIM:220110
4570	MT-TN	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:663
4570	MT-TN	HP:0001250	Seizure	-	OMIM:220110
4570	MT-TN	HP:0001252	Hypotonia	2/2	OMIM:220110
4570	MT-TN	HP:0001251	Ataxia	2/2	OMIM:220110
4570	MT-TN	HP:0001249	Intellectual disability	-	OMIM:220110
4570	MT-TN	HP:0001263	Global developmental delay	-	OMIM:220110
4570	MT-TN	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	HP:0040281	ORPHA:663
4570	MT-TN	HP:0003819	Death in childhood	2/2	OMIM:220110
4570	MT-TN	HP:0000093	Proteinuria	-	OMIM:220110
4570	MT-TN	HP:0001348	Brisk reflexes	11/11	OMIM:220110
4570	MT-TN	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:663
4570	MT-TN	HP:0000007	Autosomal recessive inheritance	-	OMIM:220110
4570	MT-TN	HP:0000124	Renal tubular dysfunction	-	OMIM:220110
4570	MT-TN	HP:0001427	Mitochondrial inheritance	-	OMIM:220110
4570	MT-TN	HP:0001410	Decreased liver function	-	OMIM:220110
4570	MT-TN	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:220110
4570	MT-TN	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:663
4570	MT-TN	HP:0003355	Aminoaciduria	-	OMIM:220110
4570	MT-TN	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:663
4570	MT-TN	HP:0002098	Respiratory distress	-	OMIM:220110
4570	MT-TN	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:663
4570	MT-TN	HP:0002078	Truncal ataxia	11/11	OMIM:220110
4570	MT-TN	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:663
4570	MT-TN	HP:0002151	Increased circulating lactate concentration	-	OMIM:220110
4570	MT-TN	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:663
4570	MT-TN	HP:0003457	EMG abnormality	HP:0040282	ORPHA:663
4570	MT-TN	HP:0003593	Infantile onset	2/2	OMIM:220110
4570	MT-TN	HP:0002240	Hepatomegaly	-	OMIM:220110
4570	MT-TN	HP:0003546	Exercise intolerance	-	OMIM:220110
4570	MT-TN	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040282	ORPHA:663
4570	MT-TN	HP:0003688	Cytochrome C oxidase-negative muscle fibers	15/15	OMIM:220110
4570	MT-TN	HP:0002376	Developmental regression	13/13	OMIM:220110
4570	MT-TN	HP:0002352	Leukoencephalopathy	-	OMIM:220110
4570	MT-TN	HP:0009073	Progressive proximal muscle weakness	HP:0040282	ORPHA:663
4570	MT-TN	HP:0000651	Diplopia	-	ORPHA:663
4570	MT-TN	HP:0000648	Optic atrophy	2/2	OMIM:220110
4570	MT-TN	HP:0001903	Anemia	-	OMIM:220110
4570	MT-TN	HP:0001994	Renal Fanconi syndrome	-	OMIM:220110
4570	MT-TN	HP:0003076	Glycosuria	-	OMIM:220110
4570	MT-TN	HP:0000716	Depression	HP:0040283	ORPHA:663
4570	MT-TN	HP:0003109	Hyperphosphaturia	-	OMIM:220110
4570	MT-TN	HP:0003128	Lactic acidosis	13/13	OMIM:220110
4570	MT-TN	HP:0000821	Hypothyroidism	HP:0040282	ORPHA:663
4570	MT-TN	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:663
4570	MT-TN	HP:0012240	Increased intramyocellular lipid droplets	-	OMIM:220110
4570	MT-TN	HP:0002878	Respiratory failure	2/2	OMIM:220110
4570	MT-TN	HP:0000218	High palate	-	OMIM:220110
4570	MT-TN	HP:0002875	Exertional dyspnea	-	OMIM:220110
4570	MT-TN	HP:0001508	Failure to thrive	2/2	OMIM:220110
4570	MT-TN	HP:0006565	Increased hepatocellular lipid droplets	-	OMIM:220110
4570	MT-TN	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:220110
4570	MT-TN	HP:0030319	Weakness of facial musculature	-	OMIM:220110
4570	MT-TN	HP:0000407	Sensorineural hearing impairment	-	OMIM:220110
4570	MT-TN	HP:0000508	Ptosis	HP:0040282	ORPHA:663
4570	MT-TN	HP:0000508	Ptosis	-	OMIM:220110
4570	MT-TN	HP:0000597	Ophthalmoparesis	2/2	OMIM:220110
4570	MT-TN	HP:0000580	Pigmentary retinopathy	-	OMIM:220110
4570	MT-TN	HP:0000590	Progressive external ophthalmoplegia	HP:0040281	ORPHA:663
4571	MT-TP	HP:0001250	Seizure	-	OMIM:545000
4571	MT-TP	HP:0001251	Ataxia	-	OMIM:545000
4571	MT-TP	HP:0001251	Ataxia	HP:0040281	ORPHA:551
4571	MT-TP	HP:0001257	Spasticity	-	OMIM:545000
4571	MT-TP	HP:0001324	Muscle weakness	-	OMIM:545000
4571	MT-TP	HP:0001336	Myoclonus	-	OMIM:545000
4571	MT-TP	HP:0001427	Mitochondrial inheritance	-	OMIM:545000
4571	MT-TP	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:551
4571	MT-TP	HP:0002151	Increased circulating lactate concentration	-	OMIM:545000
4571	MT-TP	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:551
4571	MT-TP	HP:0002123	Generalized myoclonic seizure	-	OMIM:545000
4571	MT-TP	HP:0003457	EMG abnormality	HP:0040281	ORPHA:551
4571	MT-TP	HP:0003542	Increased circulating pyruvate concentration	-	OMIM:545000
4571	MT-TP	HP:0001012	Multiple lipomas	HP:0040282	ORPHA:551
4571	MT-TP	HP:0000648	Optic atrophy	HP:0040282	ORPHA:551
4571	MT-TP	HP:0004322	Short stature	HP:0040282	ORPHA:551
4571	MT-TP	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:551
4571	MT-TP	HP:0003198	Myopathy	-	OMIM:545000
4571	MT-TP	HP:0003198	Myopathy	HP:0040281	ORPHA:551
4571	MT-TP	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:551
4571	MT-TP	HP:0003200	Ragged-red muscle fibers	-	OMIM:545000
4571	MT-TP	HP:0000407	Sensorineural hearing impairment	-	OMIM:545000
4571	MT-TP	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:551
4572	MT-TQ	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0007327	Mixed demyelinating and axonal polyneuropathy	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:540000
4572	MT-TQ	HP:0003737	Mitochondrial myopathy	-	OMIM:540000
4572	MT-TQ	HP:0002401	Stroke-like episode	-	OMIM:540000
4572	MT-TQ	HP:0002401	Stroke-like episode	HP:0040281	ORPHA:550
4572	MT-TQ	HP:0001298	Encephalopathy	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0001298	Encephalopathy	-	OMIM:540000
4572	MT-TQ	HP:0025268	Stuttering	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0001270	Motor delay	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0001269	Hemiparesis	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0001269	Hemiparesis	-	OMIM:540000
4572	MT-TQ	HP:0001288	Gait disturbance	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0001250	Seizure	HP:0040281	ORPHA:550
4572	MT-TQ	HP:0001251	Ataxia	HP:0040281	ORPHA:551
4572	MT-TQ	HP:0001251	Ataxia	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0001263	Global developmental delay	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0002572	Episodic vomiting	-	OMIM:540000
4572	MT-TQ	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0003828	Variable expressivity	-	OMIM:540000
4572	MT-TQ	HP:0000097	Focal segmental glomerulosclerosis	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0000093	Proteinuria	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:550
4572	MT-TQ	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0001328	Specific learning disability	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0001324	Muscle weakness	HP:0040281	ORPHA:550
4572	MT-TQ	HP:0001336	Myoclonus	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0000114	Proximal tubulopathy	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0001427	Mitochondrial inheritance	-	OMIM:540000
4572	MT-TQ	HP:0000112	Nephropathy	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0002019	Constipation	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0002014	Diarrhea	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0002013	Vomiting	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:551
4572	MT-TQ	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:540000
4572	MT-TQ	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0002076	Migraine	HP:0040281	ORPHA:550
4572	MT-TQ	HP:0002076	Migraine	-	OMIM:540000
4572	MT-TQ	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:550
4572	MT-TQ	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:551
4572	MT-TQ	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0003457	EMG abnormality	HP:0040281	ORPHA:551
4572	MT-TQ	HP:0100704	Cerebral visual impairment	-	OMIM:540000
4572	MT-TQ	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:550
4572	MT-TQ	HP:0007067	Distal peripheral sensory neuropathy	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0002381	Aphasia	HP:0040281	ORPHA:550
4572	MT-TQ	HP:0001045	Vitiligo	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0001012	Multiple lipomas	HP:0040282	ORPHA:551
4572	MT-TQ	HP:0002353	EEG abnormality	HP:0040281	ORPHA:550
4572	MT-TQ	HP:0002354	Memory impairment	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0007159	Fluctuations in consciousness	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0010783	Erythema	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0000648	Optic atrophy	HP:0040282	ORPHA:551
4572	MT-TQ	HP:0000648	Optic atrophy	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0001945	Fever	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0000602	Ophthalmoplegia	-	OMIM:540000
4572	MT-TQ	HP:0001903	Anemia	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0004322	Short stature	HP:0040282	ORPHA:551
4572	MT-TQ	HP:0004322	Short stature	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0004389	Intestinal pseudo-obstruction	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0000751	Personality changes	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:551
4572	MT-TQ	HP:0100027	Recurrent pancreatitis	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0000739	Anxiety	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0000736	Short attention span	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0012707	Elevated brain lactate level by MRS	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0000716	Depression	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0000726	Dementia	-	OMIM:540000
4572	MT-TQ	HP:0000726	Dementia	HP:0040281	ORPHA:550
4572	MT-TQ	HP:0000709	Psychosis	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0012766	Widened cerebral subarachnoid space	HP:0040281	ORPHA:550
4572	MT-TQ	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0003198	Myopathy	-	OMIM:540000
4572	MT-TQ	HP:0003198	Myopathy	HP:0040281	ORPHA:551
4572	MT-TQ	HP:0003198	Myopathy	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0003128	Lactic acidosis	-	OMIM:540000
4572	MT-TQ	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:550
4572	MT-TQ	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0000819	Diabetes mellitus	-	OMIM:540000
4572	MT-TQ	HP:0000829	Hypoparathyroidism	HP:0040284	ORPHA:550
4572	MT-TQ	HP:0000822	Hypertension	-	OMIM:540000
4572	MT-TQ	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:550
4572	MT-TQ	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:551
4572	MT-TQ	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:550
4572	MT-TQ	HP:0003200	Ragged-red muscle fibers	-	OMIM:540000
4572	MT-TQ	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0011675	Arrhythmia	-	OMIM:540000
4572	MT-TQ	HP:0001508	Failure to thrive	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0001507	Growth abnormality	-	OMIM:540000
4572	MT-TQ	HP:0012377	Hemianopia	-	OMIM:540000
4572	MT-TQ	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0005157	Concentric hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0005162	Abnormal left ventricular function	-	OMIM:540000
4572	MT-TQ	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0001635	Congestive heart failure	-	OMIM:540000
4572	MT-TQ	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:540000
4572	MT-TQ	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:551
4572	MT-TQ	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:550
4572	MT-TQ	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:540000
4572	MT-TQ	HP:0001716	Wolff-Parkinson-White syndrome	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0001712	Left ventricular hypertrophy	-	OMIM:540000
4572	MT-TQ	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0012444	Brain atrophy	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	HP:0040281	ORPHA:550
4572	MT-TQ	HP:0000519	Developmental cataract	-	OMIM:540000
4572	MT-TQ	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0000590	Progressive external ophthalmoplegia	HP:0040283	ORPHA:550
4572	MT-TQ	HP:0000572	Visual loss	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0002490	Increased CSF lactate	-	OMIM:220110
4574	MT-TS1	HP:0007327	Mixed demyelinating and axonal polyneuropathy	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:540000
4574	MT-TS1	HP:0003737	Mitochondrial myopathy	-	OMIM:540000
4574	MT-TS1	HP:0002401	Stroke-like episode	-	OMIM:540000
4574	MT-TS1	HP:0002401	Stroke-like episode	HP:0040281	ORPHA:550
4574	MT-TS1	HP:0001298	Encephalopathy	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0001298	Encephalopathy	-	OMIM:540000
4574	MT-TS1	HP:0025268	Stuttering	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0001290	Generalized hypotonia	11/11	OMIM:220110
4574	MT-TS1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0001270	Motor delay	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0001270	Motor delay	-	OMIM:220110
4574	MT-TS1	HP:0001269	Hemiparesis	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0001269	Hemiparesis	-	OMIM:540000
4574	MT-TS1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:663
4574	MT-TS1	HP:0001250	Seizure	-	OMIM:545000
4574	MT-TS1	HP:0001250	Seizure	HP:0040281	ORPHA:550
4574	MT-TS1	HP:0001250	Seizure	-	OMIM:220110
4574	MT-TS1	HP:0001252	Hypotonia	2/2	OMIM:220110
4574	MT-TS1	HP:0001251	Ataxia	-	OMIM:545000
4574	MT-TS1	HP:0001251	Ataxia	HP:0040281	ORPHA:551
4574	MT-TS1	HP:0001251	Ataxia	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0001251	Ataxia	2/2	OMIM:220110
4574	MT-TS1	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0001249	Intellectual disability	-	OMIM:220110
4574	MT-TS1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0001263	Global developmental delay	-	OMIM:220110
4574	MT-TS1	HP:0001257	Spasticity	-	OMIM:545000
4574	MT-TS1	HP:0002572	Episodic vomiting	-	OMIM:540000
4574	MT-TS1	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0003828	Variable expressivity	-	OMIM:540000
4574	MT-TS1	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	HP:0040281	ORPHA:663
4574	MT-TS1	HP:0003819	Death in childhood	2/2	OMIM:220110
4574	MT-TS1	HP:0000097	Focal segmental glomerulosclerosis	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0000093	Proteinuria	-	OMIM:220110
4574	MT-TS1	HP:0000093	Proteinuria	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:550
4574	MT-TS1	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0001348	Brisk reflexes	11/11	OMIM:220110
4574	MT-TS1	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:663
4574	MT-TS1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0001324	Muscle weakness	-	OMIM:545000
4574	MT-TS1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:550
4574	MT-TS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:220110
4574	MT-TS1	HP:0001336	Myoclonus	-	OMIM:545000
4574	MT-TS1	HP:0001336	Myoclonus	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0000114	Proximal tubulopathy	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0000124	Renal tubular dysfunction	-	OMIM:220110
4574	MT-TS1	HP:0001427	Mitochondrial inheritance	-	OMIM:540000
4574	MT-TS1	HP:0001427	Mitochondrial inheritance	-	OMIM:220110
4574	MT-TS1	HP:0001427	Mitochondrial inheritance	-	OMIM:580000
4574	MT-TS1	HP:0001427	Mitochondrial inheritance	-	OMIM:545000
4574	MT-TS1	HP:0000112	Nephropathy	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0001410	Decreased liver function	-	OMIM:220110
4574	MT-TS1	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:220110
4574	MT-TS1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:663
4574	MT-TS1	HP:0003355	Aminoaciduria	-	OMIM:220110
4574	MT-TS1	HP:0002019	Constipation	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:663
4574	MT-TS1	HP:0002014	Diarrhea	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0002013	Vomiting	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:551
4574	MT-TS1	HP:0002098	Respiratory distress	-	OMIM:220110
4574	MT-TS1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:663
4574	MT-TS1	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:540000
4574	MT-TS1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0002078	Truncal ataxia	11/11	OMIM:220110
4574	MT-TS1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0002076	Migraine	HP:0040281	ORPHA:550
4574	MT-TS1	HP:0002076	Migraine	-	OMIM:540000
4574	MT-TS1	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:663
4574	MT-TS1	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0002151	Increased circulating lactate concentration	-	OMIM:220110
4574	MT-TS1	HP:0002151	Increased circulating lactate concentration	-	OMIM:545000
4574	MT-TS1	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:550
4574	MT-TS1	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:663
4574	MT-TS1	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:551
4574	MT-TS1	HP:0002123	Generalized myoclonic seizure	-	OMIM:545000
4574	MT-TS1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0003457	EMG abnormality	HP:0040281	ORPHA:551
4574	MT-TS1	HP:0003457	EMG abnormality	HP:0040282	ORPHA:663
4574	MT-TS1	HP:0003593	Infantile onset	2/2	OMIM:220110
4574	MT-TS1	HP:0002240	Hepatomegaly	-	OMIM:220110
4574	MT-TS1	HP:0100704	Cerebral visual impairment	-	OMIM:540000
4574	MT-TS1	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0003546	Exercise intolerance	-	OMIM:220110
4574	MT-TS1	HP:0003542	Increased circulating pyruvate concentration	-	OMIM:545000
4574	MT-TS1	HP:0011975	Aminoglycoside-induced hearing loss	-	OMIM:580000
4574	MT-TS1	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040282	ORPHA:663
4574	MT-TS1	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:550
4574	MT-TS1	HP:0007067	Distal peripheral sensory neuropathy	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0002381	Aphasia	HP:0040281	ORPHA:550
4574	MT-TS1	HP:0003688	Cytochrome C oxidase-negative muscle fibers	15/15	OMIM:220110
4574	MT-TS1	HP:0001045	Vitiligo	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0002376	Developmental regression	13/13	OMIM:220110
4574	MT-TS1	HP:0001012	Multiple lipomas	HP:0040282	ORPHA:551
4574	MT-TS1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:550
4574	MT-TS1	HP:0002354	Memory impairment	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0002352	Leukoencephalopathy	-	OMIM:220110
4574	MT-TS1	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0007159	Fluctuations in consciousness	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0010783	Erythema	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0009073	Progressive proximal muscle weakness	HP:0040282	ORPHA:663
4574	MT-TS1	HP:0000651	Diplopia	-	ORPHA:663
4574	MT-TS1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:551
4574	MT-TS1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0000648	Optic atrophy	2/2	OMIM:220110
4574	MT-TS1	HP:0001945	Fever	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0000602	Ophthalmoplegia	-	OMIM:540000
4574	MT-TS1	HP:0001903	Anemia	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0001903	Anemia	-	OMIM:220110
4574	MT-TS1	HP:0001994	Renal Fanconi syndrome	-	OMIM:220110
4574	MT-TS1	HP:0004322	Short stature	HP:0040282	ORPHA:551
4574	MT-TS1	HP:0004322	Short stature	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0003076	Glycosuria	-	OMIM:220110
4574	MT-TS1	HP:0004389	Intestinal pseudo-obstruction	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0000751	Personality changes	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:551
4574	MT-TS1	HP:0100027	Recurrent pancreatitis	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0000739	Anxiety	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0000736	Short attention span	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0012707	Elevated brain lactate level by MRS	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0000716	Depression	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0000716	Depression	HP:0040283	ORPHA:663
4574	MT-TS1	HP:0000726	Dementia	-	OMIM:540000
4574	MT-TS1	HP:0000726	Dementia	HP:0040281	ORPHA:550
4574	MT-TS1	HP:0000709	Psychosis	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0012766	Widened cerebral subarachnoid space	HP:0040281	ORPHA:550
4574	MT-TS1	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0003109	Hyperphosphaturia	-	OMIM:220110
4574	MT-TS1	HP:0003198	Myopathy	-	OMIM:540000
4574	MT-TS1	HP:0003198	Myopathy	-	OMIM:545000
4574	MT-TS1	HP:0003198	Myopathy	HP:0040281	ORPHA:551
4574	MT-TS1	HP:0003198	Myopathy	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0003128	Lactic acidosis	13/13	OMIM:220110
4574	MT-TS1	HP:0003128	Lactic acidosis	-	OMIM:540000
4574	MT-TS1	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:550
4574	MT-TS1	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0000819	Diabetes mellitus	-	OMIM:540000
4574	MT-TS1	HP:0000829	Hypoparathyroidism	HP:0040284	ORPHA:550
4574	MT-TS1	HP:0000822	Hypertension	-	OMIM:540000
4574	MT-TS1	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:550
4574	MT-TS1	HP:0000821	Hypothyroidism	HP:0040282	ORPHA:663
4574	MT-TS1	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:551
4574	MT-TS1	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:550
4574	MT-TS1	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:663
4574	MT-TS1	HP:0003200	Ragged-red muscle fibers	-	OMIM:540000
4574	MT-TS1	HP:0003200	Ragged-red muscle fibers	-	OMIM:545000
4574	MT-TS1	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:2202
4574	MT-TS1	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:2202
4574	MT-TS1	HP:0011675	Arrhythmia	-	OMIM:540000
4574	MT-TS1	HP:0012240	Increased intramyocellular lipid droplets	-	OMIM:220110
4574	MT-TS1	HP:0002878	Respiratory failure	2/2	OMIM:220110
4574	MT-TS1	HP:0000218	High palate	-	OMIM:220110
4574	MT-TS1	HP:0002875	Exertional dyspnea	-	OMIM:220110
4574	MT-TS1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0001508	Failure to thrive	2/2	OMIM:220110
4574	MT-TS1	HP:0001507	Growth abnormality	-	OMIM:540000
4574	MT-TS1	HP:0012377	Hemianopia	-	OMIM:540000
4574	MT-TS1	HP:0006565	Increased hepatocellular lipid droplets	-	OMIM:220110
4574	MT-TS1	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0005157	Concentric hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0005162	Abnormal left ventricular function	-	OMIM:540000
4574	MT-TS1	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:220110
4574	MT-TS1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0001635	Congestive heart failure	-	OMIM:540000
4574	MT-TS1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0030319	Weakness of facial musculature	-	OMIM:220110
4574	MT-TS1	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:540000
4574	MT-TS1	HP:0000407	Sensorineural hearing impairment	-	OMIM:545000
4574	MT-TS1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:551
4574	MT-TS1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:550
4574	MT-TS1	HP:0000407	Sensorineural hearing impairment	-	OMIM:220110
4574	MT-TS1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2202
4574	MT-TS1	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:540000
4574	MT-TS1	HP:0001716	Wolff-Parkinson-White syndrome	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0001712	Left ventricular hypertrophy	-	OMIM:540000
4574	MT-TS1	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	HP:0040281	ORPHA:550
4574	MT-TS1	HP:0000519	Developmental cataract	-	OMIM:540000
4574	MT-TS1	HP:0000508	Ptosis	HP:0040282	ORPHA:663
4574	MT-TS1	HP:0000508	Ptosis	-	OMIM:220110
4574	MT-TS1	HP:0000597	Ophthalmoparesis	2/2	OMIM:220110
4574	MT-TS1	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0000580	Pigmentary retinopathy	-	OMIM:220110
4574	MT-TS1	HP:0000590	Progressive external ophthalmoplegia	HP:0040283	ORPHA:550
4574	MT-TS1	HP:0000590	Progressive external ophthalmoplegia	HP:0040281	ORPHA:663
4574	MT-TS1	HP:0000572	Visual loss	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0007327	Mixed demyelinating and axonal polyneuropathy	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:540000
4575	MT-TS2	HP:0003737	Mitochondrial myopathy	-	OMIM:540000
4575	MT-TS2	HP:0002401	Stroke-like episode	-	OMIM:540000
4575	MT-TS2	HP:0002401	Stroke-like episode	HP:0040281	ORPHA:550
4575	MT-TS2	HP:0001298	Encephalopathy	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0001298	Encephalopathy	-	OMIM:540000
4575	MT-TS2	HP:0025268	Stuttering	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0001270	Motor delay	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0001269	Hemiparesis	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0001269	Hemiparesis	-	OMIM:540000
4575	MT-TS2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0001250	Seizure	-	OMIM:545000
4575	MT-TS2	HP:0001250	Seizure	HP:0040281	ORPHA:550
4575	MT-TS2	HP:0001251	Ataxia	-	OMIM:545000
4575	MT-TS2	HP:0001251	Ataxia	HP:0040281	ORPHA:551
4575	MT-TS2	HP:0001251	Ataxia	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0001251	Ataxia	HP:0040282	ORPHA:231183
4575	MT-TS2	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0001257	Spasticity	-	OMIM:545000
4575	MT-TS2	HP:0002572	Episodic vomiting	-	OMIM:540000
4575	MT-TS2	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0003828	Variable expressivity	-	OMIM:540000
4575	MT-TS2	HP:0000097	Focal segmental glomerulosclerosis	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0000093	Proteinuria	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:550
4575	MT-TS2	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0001324	Muscle weakness	-	OMIM:545000
4575	MT-TS2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:550
4575	MT-TS2	HP:0001336	Myoclonus	-	OMIM:545000
4575	MT-TS2	HP:0001336	Myoclonus	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0000114	Proximal tubulopathy	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0001427	Mitochondrial inheritance	-	OMIM:540000
4575	MT-TS2	HP:0001427	Mitochondrial inheritance	-	OMIM:545000
4575	MT-TS2	HP:0000112	Nephropathy	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0002019	Constipation	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0002014	Diarrhea	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0002013	Vomiting	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:551
4575	MT-TS2	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:540000
4575	MT-TS2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0002076	Migraine	HP:0040281	ORPHA:550
4575	MT-TS2	HP:0002076	Migraine	-	OMIM:540000
4575	MT-TS2	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0002151	Increased circulating lactate concentration	-	OMIM:545000
4575	MT-TS2	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:550
4575	MT-TS2	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:551
4575	MT-TS2	HP:0002123	Generalized myoclonic seizure	-	OMIM:545000
4575	MT-TS2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0003457	EMG abnormality	HP:0040281	ORPHA:551
4575	MT-TS2	HP:0100704	Cerebral visual impairment	-	OMIM:540000
4575	MT-TS2	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0003542	Increased circulating pyruvate concentration	-	OMIM:545000
4575	MT-TS2	HP:0100753	Schizophrenia	HP:0040283	ORPHA:231183
4575	MT-TS2	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:550
4575	MT-TS2	HP:0007067	Distal peripheral sensory neuropathy	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0002381	Aphasia	HP:0040281	ORPHA:550
4575	MT-TS2	HP:0001045	Vitiligo	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0001012	Multiple lipomas	HP:0040282	ORPHA:551
4575	MT-TS2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:550
4575	MT-TS2	HP:0002354	Memory impairment	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0008499	High hypermetropia	HP:0040282	ORPHA:231183
4575	MT-TS2	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0007159	Fluctuations in consciousness	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0010783	Erythema	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0000648	Optic atrophy	HP:0040282	ORPHA:551
4575	MT-TS2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0001945	Fever	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0000602	Ophthalmoplegia	-	OMIM:540000
4575	MT-TS2	HP:0001903	Anemia	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0000662	Nyctalopia	HP:0040281	ORPHA:231183
4575	MT-TS2	HP:0004322	Short stature	HP:0040282	ORPHA:551
4575	MT-TS2	HP:0004322	Short stature	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0004389	Intestinal pseudo-obstruction	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0000751	Personality changes	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:551
4575	MT-TS2	HP:0100027	Recurrent pancreatitis	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0000738	Hallucinations	HP:0040283	ORPHA:231183
4575	MT-TS2	HP:0000739	Anxiety	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0000739	Anxiety	HP:0040283	ORPHA:231183
4575	MT-TS2	HP:0000736	Short attention span	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0012707	Elevated brain lactate level by MRS	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0000716	Depression	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0000716	Depression	HP:0040283	ORPHA:231183
4575	MT-TS2	HP:0000726	Dementia	-	OMIM:540000
4575	MT-TS2	HP:0000726	Dementia	HP:0040281	ORPHA:550
4575	MT-TS2	HP:0000709	Psychosis	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0012766	Widened cerebral subarachnoid space	HP:0040281	ORPHA:550
4575	MT-TS2	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0003198	Myopathy	-	OMIM:540000
4575	MT-TS2	HP:0003198	Myopathy	-	OMIM:545000
4575	MT-TS2	HP:0003198	Myopathy	HP:0040281	ORPHA:551
4575	MT-TS2	HP:0003198	Myopathy	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0003128	Lactic acidosis	-	OMIM:540000
4575	MT-TS2	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:550
4575	MT-TS2	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0000819	Diabetes mellitus	-	OMIM:540000
4575	MT-TS2	HP:0000829	Hypoparathyroidism	HP:0040284	ORPHA:550
4575	MT-TS2	HP:0000822	Hypertension	-	OMIM:540000
4575	MT-TS2	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:550
4575	MT-TS2	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:551
4575	MT-TS2	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:550
4575	MT-TS2	HP:0003200	Ragged-red muscle fibers	-	OMIM:540000
4575	MT-TS2	HP:0003200	Ragged-red muscle fibers	-	OMIM:545000
4575	MT-TS2	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0011675	Arrhythmia	-	OMIM:540000
4575	MT-TS2	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:231183
4575	MT-TS2	HP:0001508	Failure to thrive	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0001507	Growth abnormality	-	OMIM:540000
4575	MT-TS2	HP:0012377	Hemianopia	-	OMIM:540000
4575	MT-TS2	HP:0012377	Hemianopia	HP:0040281	ORPHA:231183
4575	MT-TS2	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0005157	Concentric hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0005162	Abnormal left ventricular function	-	OMIM:540000
4575	MT-TS2	HP:0000375	Abnormal cochlea morphology	HP:0040281	ORPHA:231183
4575	MT-TS2	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0001635	Congestive heart failure	-	OMIM:540000
4575	MT-TS2	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:540000
4575	MT-TS2	HP:0000407	Sensorineural hearing impairment	-	OMIM:545000
4575	MT-TS2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:551
4575	MT-TS2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:231183
4575	MT-TS2	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:540000
4575	MT-TS2	HP:0001716	Wolff-Parkinson-White syndrome	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0001712	Left ventricular hypertrophy	-	OMIM:540000
4575	MT-TS2	HP:0000483	Astigmatism	HP:0040282	ORPHA:231183
4575	MT-TS2	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	HP:0040281	ORPHA:550
4575	MT-TS2	HP:0001756	Vestibular hyporeflexia	HP:0040281	ORPHA:231183
4575	MT-TS2	HP:0000518	Cataract	HP:0040282	ORPHA:231183
4575	MT-TS2	HP:0000519	Developmental cataract	-	OMIM:540000
4575	MT-TS2	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:231183
4575	MT-TS2	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0000575	Scotoma	HP:0040281	ORPHA:231183
4575	MT-TS2	HP:0000590	Progressive external ophthalmoplegia	HP:0040283	ORPHA:550
4575	MT-TS2	HP:0000572	Visual loss	HP:0040282	ORPHA:550
4575	MT-TS2	HP:0000572	Visual loss	HP:0040281	ORPHA:231183
4576	MT-TT	HP:0007311	Short stepped shuffling gait	-	OMIM:168600
4576	MT-TT	HP:0003745	Sporadic	-	OMIM:168600
4576	MT-TT	HP:0001284	Areflexia	HP:0040283	ORPHA:254857
4576	MT-TT	HP:0001254	Lethargy	HP:0040283	ORPHA:254857
4576	MT-TT	HP:0001250	Seizure	HP:0040283	ORPHA:254857
4576	MT-TT	HP:0001260	Dysarthria	-	OMIM:168600
4576	MT-TT	HP:0002529	Neuronal loss in central nervous system	-	OMIM:168600
4576	MT-TT	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:254857
4576	MT-TT	HP:0001332	Dystonia	-	OMIM:168600
4576	MT-TT	HP:0000012	Urinary urgency	-	OMIM:168600
4576	MT-TT	HP:0001337	Tremor	-	OMIM:168600
4576	MT-TT	HP:0000006	Autosomal dominant inheritance	-	OMIM:168600
4576	MT-TT	HP:0002643	Neonatal respiratory distress	HP:0040283	ORPHA:254857
4576	MT-TT	HP:0001300	Parkinsonism	-	OMIM:168600
4576	MT-TT	HP:0008935	Generalized neonatal hypotonia	HP:0040283	ORPHA:254857
4576	MT-TT	HP:0001427	Mitochondrial inheritance	-	OMIM:551000
4576	MT-TT	HP:0002019	Constipation	-	OMIM:168600
4576	MT-TT	HP:0002015	Dysphagia	-	OMIM:168600
4576	MT-TT	HP:0002067	Bradykinesia	-	OMIM:168600
4576	MT-TT	HP:0002063	Rigidity	-	OMIM:168600
4576	MT-TT	HP:0002172	Postural instability	-	OMIM:168600
4576	MT-TT	HP:0003587	Insidious onset	-	OMIM:168600
4576	MT-TT	HP:0003584	Late onset	-	OMIM:168600
4576	MT-TT	HP:0003581	Adult onset	-	OMIM:168600
4576	MT-TT	HP:0011960	Substantia nigra gliosis	-	OMIM:168600
4576	MT-TT	HP:0002360	Sleep abnormality	-	OMIM:168600
4576	MT-TT	HP:0003676	Progressive	-	OMIM:168600
4576	MT-TT	HP:0002322	Resting tremor	-	OMIM:168600
4576	MT-TT	HP:0004900	Severe lactic acidosis	HP:0040282	ORPHA:254857
4576	MT-TT	HP:0009069	Lethal infantile mitochondrial myopathy	-	OMIM:551000
4576	MT-TT	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:254857
4576	MT-TT	HP:0031908	Micrographia	-	OMIM:168600
4576	MT-TT	HP:0000751	Personality changes	-	OMIM:168600
4576	MT-TT	HP:0000738	Hallucinations	HP:0040283	OMIM:168600
4576	MT-TT	HP:0000716	Depression	-	OMIM:168600
4576	MT-TT	HP:0000726	Dementia	-	OMIM:168600
4576	MT-TT	HP:0003198	Myopathy	-	OMIM:551000
4576	MT-TT	HP:0100315	Lewy bodies	-	OMIM:168600
4576	MT-TT	HP:0003128	Lactic acidosis	-	OMIM:551000
4576	MT-TT	HP:0000298	Mask-like facies	-	OMIM:168600
4576	MT-TT	HP:0006583	Fatal liver failure in infancy	HP:0040283	ORPHA:254857
4576	MT-TT	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	OMIM:168600
4576	MT-TT	HP:0001621	Weak voice	-	OMIM:168600
4576	MT-TT	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:254857
4576	MT-TT	HP:0000590	Progressive external ophthalmoplegia	HP:0040282	ORPHA:254857
4577	MT-TV	HP:0002483	Bulbar signs	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:255210
4577	MT-TV	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:540000
4577	MT-TV	HP:0003737	Mitochondrial myopathy	-	OMIM:540000
4577	MT-TV	HP:0003737	Mitochondrial myopathy	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0002401	Stroke-like episode	-	OMIM:540000
4577	MT-TV	HP:0001298	Encephalopathy	-	OMIM:540000
4577	MT-TV	HP:0001276	Hypertonia	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0001269	Hemiparesis	-	OMIM:540000
4577	MT-TV	HP:0001250	Seizure	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0001251	Ataxia	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0001257	Spasticity	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0002572	Episodic vomiting	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0002572	Episodic vomiting	-	OMIM:540000
4577	MT-TV	HP:0003828	Variable expressivity	-	OMIM:540000
4577	MT-TV	HP:0000091	Abnormal renal tubule morphology	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0001399	Hepatic failure	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0001332	Dystonia	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0001324	Muscle weakness	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0008947	Floppy infant	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0001427	Mitochondrial inheritance	-	OMIM:540000
4577	MT-TV	HP:0003348	Hyperalaninemia	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0002015	Dysphagia	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0002094	Dyspnea	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:540000
4577	MT-TV	HP:0002066	Gait ataxia	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0002076	Migraine	-	OMIM:540000
4577	MT-TV	HP:0002072	Chorea	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0002045	Hypothermia	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0003481	Segmental peripheral demyelination/remyelination	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0002104	Apnea	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0003572	Low plasma citrulline	HP:0040284	ORPHA:255210
4577	MT-TV	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0100704	Cerebral visual impairment	-	OMIM:540000
4577	MT-TV	HP:0004885	Episodic respiratory distress	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0002376	Developmental regression	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0003648	Lacticaciduria	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0100660	Dyskinesia	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0100611	Multiple glomerular cysts	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0007183	Focal T2 hyperintense basal ganglia lesion	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0000639	Nystagmus	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0000648	Optic atrophy	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0001945	Fever	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0000602	Ophthalmoplegia	-	OMIM:540000
4577	MT-TV	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0000726	Dementia	-	OMIM:540000
4577	MT-TV	HP:0003198	Myopathy	-	OMIM:540000
4577	MT-TV	HP:0003128	Lactic acidosis	-	OMIM:540000
4577	MT-TV	HP:0000819	Diabetes mellitus	-	OMIM:540000
4577	MT-TV	HP:0000816	Abnormality of Krebs cycle metabolism	HP:0040281	ORPHA:255210
4577	MT-TV	HP:0000822	Hypertension	-	OMIM:540000
4577	MT-TV	HP:0003200	Ragged-red muscle fibers	HP:0040284	ORPHA:255210
4577	MT-TV	HP:0003200	Ragged-red muscle fibers	-	OMIM:540000
4577	MT-TV	HP:0011675	Arrhythmia	-	OMIM:540000
4577	MT-TV	HP:0002883	Hyperventilation	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0001508	Failure to thrive	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0001507	Growth abnormality	-	OMIM:540000
4577	MT-TV	HP:0012377	Hemianopia	-	OMIM:540000
4577	MT-TV	HP:0005162	Abnormal left ventricular function	-	OMIM:540000
4577	MT-TV	HP:0031434	Abnormal prosody	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0001635	Congestive heart failure	-	OMIM:540000
4577	MT-TV	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:540000
4577	MT-TV	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:540000
4577	MT-TV	HP:0001712	Left ventricular hypertrophy	-	OMIM:540000
4577	MT-TV	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0012469	Infantile spasms	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0000519	Developmental cataract	-	OMIM:540000
4577	MT-TV	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:255210
4577	MT-TV	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:255210
4577	MT-TV	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0002483	Bulbar signs	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:550
4578	MT-TW	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:255210
4578	MT-TW	HP:0007327	Mixed demyelinating and axonal polyneuropathy	HP:0040283	ORPHA:550
4578	MT-TW	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:550
4578	MT-TW	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:540000
4578	MT-TW	HP:0003737	Mitochondrial myopathy	-	OMIM:540000
4578	MT-TW	HP:0003737	Mitochondrial myopathy	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0002401	Stroke-like episode	-	OMIM:540000
4578	MT-TW	HP:0002401	Stroke-like episode	HP:0040281	ORPHA:550
4578	MT-TW	HP:0001298	Encephalopathy	HP:0040282	ORPHA:550
4578	MT-TW	HP:0001298	Encephalopathy	-	OMIM:540000
4578	MT-TW	HP:0025268	Stuttering	HP:0040283	ORPHA:550
4578	MT-TW	HP:0001276	Hypertonia	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:550
4578	MT-TW	HP:0001270	Motor delay	HP:0040283	ORPHA:550
4578	MT-TW	HP:0001269	Hemiparesis	HP:0040282	ORPHA:550
4578	MT-TW	HP:0001269	Hemiparesis	-	OMIM:540000
4578	MT-TW	HP:0001288	Gait disturbance	HP:0040282	ORPHA:550
4578	MT-TW	HP:0001250	Seizure	HP:0040281	ORPHA:550
4578	MT-TW	HP:0001250	Seizure	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0001251	Ataxia	HP:0040282	ORPHA:550
4578	MT-TW	HP:0001251	Ataxia	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:550
4578	MT-TW	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0001263	Global developmental delay	HP:0040283	ORPHA:550
4578	MT-TW	HP:0001257	Spasticity	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0002572	Episodic vomiting	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0002572	Episodic vomiting	-	OMIM:540000
4578	MT-TW	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:550
4578	MT-TW	HP:0003828	Variable expressivity	-	OMIM:540000
4578	MT-TW	HP:0000097	Focal segmental glomerulosclerosis	HP:0040283	ORPHA:550
4578	MT-TW	HP:0000091	Abnormal renal tubule morphology	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0000093	Proteinuria	HP:0040283	ORPHA:550
4578	MT-TW	HP:0001399	Hepatic failure	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:550
4578	MT-TW	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:550
4578	MT-TW	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0001332	Dystonia	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0001328	Specific learning disability	HP:0040282	ORPHA:550
4578	MT-TW	HP:0001324	Muscle weakness	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0001324	Muscle weakness	HP:0040281	ORPHA:550
4578	MT-TW	HP:0001336	Myoclonus	HP:0040282	ORPHA:550
4578	MT-TW	HP:0008947	Floppy infant	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0000114	Proximal tubulopathy	HP:0040283	ORPHA:550
4578	MT-TW	HP:0001427	Mitochondrial inheritance	-	OMIM:540000
4578	MT-TW	HP:0000112	Nephropathy	HP:0040283	ORPHA:550
4578	MT-TW	HP:0002019	Constipation	HP:0040283	ORPHA:550
4578	MT-TW	HP:0003348	Hyperalaninemia	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0002014	Diarrhea	HP:0040283	ORPHA:550
4578	MT-TW	HP:0002015	Dysphagia	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0002013	Vomiting	HP:0040282	ORPHA:550
4578	MT-TW	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:550
4578	MT-TW	HP:0002094	Dyspnea	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:550
4578	MT-TW	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:540000
4578	MT-TW	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:550
4578	MT-TW	HP:0002066	Gait ataxia	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:550
4578	MT-TW	HP:0002076	Migraine	HP:0040281	ORPHA:550
4578	MT-TW	HP:0002076	Migraine	-	OMIM:540000
4578	MT-TW	HP:0002072	Chorea	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0002045	Hypothermia	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:550
4578	MT-TW	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:550
4578	MT-TW	HP:0003481	Segmental peripheral demyelination/remyelination	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:550
4578	MT-TW	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:550
4578	MT-TW	HP:0002104	Apnea	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0003572	Low plasma citrulline	HP:0040284	ORPHA:255210
4578	MT-TW	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0100704	Cerebral visual impairment	-	OMIM:540000
4578	MT-TW	HP:0004885	Episodic respiratory distress	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:550
4578	MT-TW	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:550
4578	MT-TW	HP:0007067	Distal peripheral sensory neuropathy	HP:0040283	ORPHA:550
4578	MT-TW	HP:0002381	Aphasia	HP:0040281	ORPHA:550
4578	MT-TW	HP:0001045	Vitiligo	HP:0040283	ORPHA:550
4578	MT-TW	HP:0002376	Developmental regression	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0002353	EEG abnormality	HP:0040281	ORPHA:550
4578	MT-TW	HP:0002354	Memory impairment	HP:0040282	ORPHA:550
4578	MT-TW	HP:0003648	Lacticaciduria	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:550
4578	MT-TW	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:550
4578	MT-TW	HP:0100660	Dyskinesia	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:550
4578	MT-TW	HP:0100611	Multiple glomerular cysts	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:550
4578	MT-TW	HP:0007159	Fluctuations in consciousness	HP:0040282	ORPHA:550
4578	MT-TW	HP:0010783	Erythema	HP:0040283	ORPHA:550
4578	MT-TW	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:550
4578	MT-TW	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0007183	Focal T2 hyperintense basal ganglia lesion	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0000639	Nystagmus	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0000648	Optic atrophy	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0000648	Optic atrophy	HP:0040283	ORPHA:550
4578	MT-TW	HP:0001945	Fever	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0001945	Fever	HP:0040283	ORPHA:550
4578	MT-TW	HP:0000602	Ophthalmoplegia	-	OMIM:540000
4578	MT-TW	HP:0001903	Anemia	HP:0040283	ORPHA:550
4578	MT-TW	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0004322	Short stature	HP:0040282	ORPHA:550
4578	MT-TW	HP:0004389	Intestinal pseudo-obstruction	HP:0040283	ORPHA:550
4578	MT-TW	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:550
4578	MT-TW	HP:0000751	Personality changes	HP:0040283	ORPHA:550
4578	MT-TW	HP:0100027	Recurrent pancreatitis	HP:0040283	ORPHA:550
4578	MT-TW	HP:0000739	Anxiety	HP:0040282	ORPHA:550
4578	MT-TW	HP:0000736	Short attention span	HP:0040282	ORPHA:550
4578	MT-TW	HP:0012707	Elevated brain lactate level by MRS	HP:0040283	ORPHA:550
4578	MT-TW	HP:0000716	Depression	HP:0040282	ORPHA:550
4578	MT-TW	HP:0000726	Dementia	-	OMIM:540000
4578	MT-TW	HP:0000726	Dementia	HP:0040281	ORPHA:550
4578	MT-TW	HP:0000709	Psychosis	HP:0040282	ORPHA:550
4578	MT-TW	HP:0012766	Widened cerebral subarachnoid space	HP:0040281	ORPHA:550
4578	MT-TW	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:550
4578	MT-TW	HP:0003198	Myopathy	-	OMIM:540000
4578	MT-TW	HP:0003198	Myopathy	HP:0040282	ORPHA:550
4578	MT-TW	HP:0003128	Lactic acidosis	-	OMIM:540000
4578	MT-TW	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:550
4578	MT-TW	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:550
4578	MT-TW	HP:0000819	Diabetes mellitus	-	OMIM:540000
4578	MT-TW	HP:0000816	Abnormality of Krebs cycle metabolism	HP:0040281	ORPHA:255210
4578	MT-TW	HP:0000829	Hypoparathyroidism	HP:0040284	ORPHA:550
4578	MT-TW	HP:0000822	Hypertension	-	OMIM:540000
4578	MT-TW	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:550
4578	MT-TW	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:550
4578	MT-TW	HP:0003200	Ragged-red muscle fibers	HP:0040284	ORPHA:255210
4578	MT-TW	HP:0003200	Ragged-red muscle fibers	-	OMIM:540000
4578	MT-TW	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:550
4578	MT-TW	HP:0011675	Arrhythmia	-	OMIM:540000
4578	MT-TW	HP:0002883	Hyperventilation	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0001508	Failure to thrive	HP:0040283	ORPHA:550
4578	MT-TW	HP:0001508	Failure to thrive	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0001507	Growth abnormality	-	OMIM:540000
4578	MT-TW	HP:0012377	Hemianopia	-	OMIM:540000
4578	MT-TW	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:550
4578	MT-TW	HP:0005157	Concentric hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4578	MT-TW	HP:0005162	Abnormal left ventricular function	-	OMIM:540000
4578	MT-TW	HP:0031434	Abnormal prosody	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:550
4578	MT-TW	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:550
4578	MT-TW	HP:0001635	Congestive heart failure	-	OMIM:540000
4578	MT-TW	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:550
4578	MT-TW	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:540000
4578	MT-TW	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:550
4578	MT-TW	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:540000
4578	MT-TW	HP:0001716	Wolff-Parkinson-White syndrome	HP:0040283	ORPHA:550
4578	MT-TW	HP:0001712	Left ventricular hypertrophy	-	OMIM:540000
4578	MT-TW	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:550
4578	MT-TW	HP:0012469	Infantile spasms	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0012444	Brain atrophy	HP:0040283	ORPHA:550
4578	MT-TW	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	HP:0040281	ORPHA:550
4578	MT-TW	HP:0000519	Developmental cataract	-	OMIM:540000
4578	MT-TW	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:255210
4578	MT-TW	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:550
4578	MT-TW	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:255210
4578	MT-TW	HP:0000590	Progressive external ophthalmoplegia	HP:0040283	ORPHA:550
4578	MT-TW	HP:0000572	Visual loss	HP:0040282	ORPHA:550
4582	MUC1	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:174000
4582	MUC1	HP:0000089	Renal hypoplasia	-	OMIM:174000
4582	MUC1	HP:0000096	Glomerular sclerosis	-	OMIM:174000
4582	MUC1	HP:0000092	Renal tubular atrophy	-	OMIM:174000
4582	MUC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:174000
4582	MUC1	HP:0002615	Hypotension	-	OMIM:174000
4582	MUC1	HP:0000127	Renal salt wasting	-	OMIM:174000
4582	MUC1	HP:0000108	Renal corticomedullary cysts	-	OMIM:174000
4582	MUC1	HP:0002048	Renal cortical atrophy	-	OMIM:174000
4582	MUC1	HP:0002149	Hyperuricemia	-	OMIM:174000
4582	MUC1	HP:0002120	Cerebral cortical atrophy	-	OMIM:174000
4582	MUC1	HP:0004732	Impaired renal uric acid clearance	-	OMIM:174000
4582	MUC1	HP:0003581	Adult onset	-	OMIM:174000
4582	MUC1	HP:0005576	Tubulointerstitial fibrosis	-	OMIM:174000
4582	MUC1	HP:0005583	Tubular basement membrane disintegration	-	OMIM:174000
4582	MUC1	HP:0001970	Tubulointerstitial nephritis	-	OMIM:174000
4582	MUC1	HP:0001903	Anemia	-	OMIM:174000
4582	MUC1	HP:0001997	Gout	-	OMIM:174000
4582	MUC1	HP:0000822	Hypertension	-	OMIM:174000
4582	MUC1	HP:0003259	Elevated circulating creatinine concentration	-	OMIM:174000
4582	MUC1	HP:0012213	Decreased glomerular filtration rate	-	OMIM:174000
4589	MUC7	HP:0000006	Autosomal dominant inheritance	-	OMIM:600807
4589	MUC7	HP:0001426	Non-Mendelian inheritance	-	OMIM:600807
4589	MUC7	HP:0002099	Asthma	-	OMIM:600807
4589	MUC7	HP:4000007	Bronchoconstriction	-	OMIM:600807
4589	MUC7	HP:0032933	Airway hyperresponsiveness	-	OMIM:600807
4591	TRIM37	HP:0001131	Corneal dystrophy	4/42	OMIM:253250
4591	TRIM37	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4591	TRIM37	HP:0001293	Cranial nerve compression	-	OMIM:131300
4591	TRIM37	HP:0001256	Intellectual disability, mild	4/42	OMIM:253250
4591	TRIM37	HP:0001252	Hypotonia	31/42	OMIM:253250
4591	TRIM37	HP:0001252	Hypotonia	2/7	OMIM:615777
4591	TRIM37	HP:0001249	Intellectual disability	5/7	OMIM:615777
4591	TRIM37	HP:0001260	Dysarthria	-	OMIM:253250
4591	TRIM37	HP:0001263	Global developmental delay	-	OMIM:615777
4591	TRIM37	HP:0002515	Waddling gait	54/102	OMIM:131300
4591	TRIM37	HP:0001382	Joint hypermobility	-	OMIM:615777
4591	TRIM37	HP:0002680	J-shaped sella turcica	38/42	OMIM:253250
4591	TRIM37	HP:0002680	J-shaped sella turcica	HP:0040281	ORPHA:2576
4591	TRIM37	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4591	TRIM37	HP:0002688	Absent frontal sinuses	14/42	OMIM:253250
4591	TRIM37	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4591	TRIM37	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4591	TRIM37	HP:0001324	Muscle weakness	40/96	OMIM:131300
4591	TRIM37	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4591	TRIM37	HP:0000007	Autosomal recessive inheritance	-	OMIM:253250
4591	TRIM37	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4591	TRIM37	HP:0002667	Nephroblastoma	11/52	OMIM:253250
4591	TRIM37	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4591	TRIM37	HP:0002650	Scoliosis	12/14	OMIM:131300
4591	TRIM37	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:2576
4591	TRIM37	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4591	TRIM37	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4591	TRIM37	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4591	TRIM37	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4591	TRIM37	HP:0000175	Cleft palate	2/7	OMIM:615777
4591	TRIM37	HP:0000171	Microglossia	-	OMIM:253250
4591	TRIM37	HP:0006297	Enamel hypoplasia	1/42	OMIM:253250
4591	TRIM37	HP:0002783	Recurrent lower respiratory tract infections	13/42	OMIM:253250
4591	TRIM37	HP:0002738	Hypoplastic frontal sinuses	-	OMIM:253250
4591	TRIM37	HP:0002007	Frontal bossing	36/42	OMIM:253250
4591	TRIM37	HP:0003388	Easy fatigability	36/76	OMIM:131300
4591	TRIM37	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4591	TRIM37	HP:0002119	Ventriculomegaly	6/42	OMIM:253250
4591	TRIM37	HP:0003593	Infantile onset	3/3	OMIM:253250
4591	TRIM37	HP:0002240	Hepatomegaly	37/42	OMIM:253250
4591	TRIM37	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:2576
4591	TRIM37	HP:0003510	Severe short stature	7/7	OMIM:615777
4591	TRIM37	HP:0001052	Nevus flammeus	21/42	OMIM:253250
4591	TRIM37	HP:0002315	Headache	-	OMIM:131300
4591	TRIM37	HP:0004976	Knee dislocation	6/7	OMIM:615777
4591	TRIM37	HP:0009803	Short phalanx of finger	-	OMIM:615777
4591	TRIM37	HP:0009763	Limb pain	63/92	OMIM:131300
4591	TRIM37	HP:0003621	Juvenile onset	-	OMIM:131300
4591	TRIM37	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4591	TRIM37	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4591	TRIM37	HP:6001056	Out-toeing	-	OMIM:131300
4591	TRIM37	HP:0000651	Diplopia	-	OMIM:131300
4591	TRIM37	HP:0000612	Iris coloboma	1/42	OMIM:253250
4591	TRIM37	HP:0001956	Truncal obesity	2/7	OMIM:615777
4591	TRIM37	HP:0001903	Anemia	HP:0040283	OMIM:131300
4591	TRIM37	HP:0010049	Short metacarpal	-	OMIM:615777
4591	TRIM37	HP:0000678	Dental crowding	-	OMIM:615777
4591	TRIM37	HP:0000678	Dental crowding	-	OMIM:253250
4591	TRIM37	HP:0000689	Dental malocclusion	19/42	OMIM:253250
4591	TRIM37	HP:0000670	Carious teeth	-	OMIM:131300
4591	TRIM37	HP:0011304	Broad thumb	2/7	OMIM:615777
4591	TRIM37	HP:0000668	Hypodontia	-	OMIM:615777
4591	TRIM37	HP:0000668	Hypodontia	-	OMIM:253250
4591	TRIM37	HP:0000664	Synophrys	-	OMIM:615777
4591	TRIM37	HP:0004322	Short stature	41/42	OMIM:253250
4591	TRIM37	HP:0004322	Short stature	HP:0040281	ORPHA:2576
4591	TRIM37	HP:0004326	Cachexia	HP:0040281	ORPHA:2576
4591	TRIM37	HP:0004396	Poor appetite	-	OMIM:131300
4591	TRIM37	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4591	TRIM37	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4591	TRIM37	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4591	TRIM37	HP:0003026	Short long bone	7/7	OMIM:615777
4591	TRIM37	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4591	TRIM37	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4591	TRIM37	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4591	TRIM37	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4591	TRIM37	HP:0000750	Delayed speech and language development	-	OMIM:615777
4591	TRIM37	HP:0011461	Fetal onset	7/7	OMIM:615777
4591	TRIM37	HP:0000774	Narrow chest	2/7	OMIM:615777
4591	TRIM37	HP:0000926	Platyspondyly	1/7	OMIM:615777
4591	TRIM37	HP:0003180	Flat acetabular roof	-	OMIM:615777
4591	TRIM37	HP:0004482	Relative macrocephaly	-	OMIM:615777
4591	TRIM37	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4591	TRIM37	HP:0000823	Delayed puberty	-	OMIM:131300
4591	TRIM37	HP:0000894	Short clavicles	-	OMIM:615777
4591	TRIM37	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4591	TRIM37	HP:0000954	Single transverse palmar crease	2/42	OMIM:253250
4591	TRIM37	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4591	TRIM37	HP:0000935	Thickened cortex of long bones	8/42	OMIM:253250
4591	TRIM37	HP:0000286	Epicanthus	1/7	OMIM:615777
4591	TRIM37	HP:0000280	Coarse facial features	2/7	OMIM:615777
4591	TRIM37	HP:0000256	Macrocephaly	HP:0040281	ORPHA:2576
4591	TRIM37	HP:0000268	Dolichocephaly	-	OMIM:253250
4591	TRIM37	HP:0005132	Pericardial constriction	31/42	OMIM:253250
4591	TRIM37	HP:0002827	Hip dislocation	3/7	OMIM:615777
4591	TRIM37	HP:0000252	Microcephaly	-	OMIM:615777
4591	TRIM37	HP:0002857	Genu valgum	-	OMIM:131300
4591	TRIM37	HP:0001541	Ascites	11/42	OMIM:253250
4591	TRIM37	HP:0001533	Slender build	-	OMIM:131300
4591	TRIM37	HP:0001511	Intrauterine growth retardation	14/38	OMIM:253250
4591	TRIM37	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2576
4591	TRIM37	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4591	TRIM37	HP:0001510	Growth delay	41/42	OMIM:253250
4591	TRIM37	HP:0007807	Optic nerve compression	-	OMIM:131300
4591	TRIM37	HP:0012368	Flat face	7/7	OMIM:615777
4591	TRIM37	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4591	TRIM37	HP:0000365	Hearing impairment	10/67	OMIM:131300
4591	TRIM37	HP:0000343	Long philtrum	1/7	OMIM:615777
4591	TRIM37	HP:0011001	Increased bone mineral density	-	OMIM:131300
4591	TRIM37	HP:0001685	Myocardial fibrosis	-	OMIM:253250
4591	TRIM37	HP:0000316	Hypertelorism	-	OMIM:253250
4591	TRIM37	HP:0000311	Round face	2/7	OMIM:615777
4591	TRIM37	HP:0000325	Triangular face	41/42	OMIM:253250
4591	TRIM37	HP:0001621	Weak voice	36/42	OMIM:253250
4591	TRIM37	HP:0001620	Abnormally high-pitched voice	HP:0040281	ORPHA:2576
4591	TRIM37	HP:0001620	Abnormally high-pitched voice	-	OMIM:253250
4591	TRIM37	HP:0001640	Cardiomegaly	9/42	OMIM:253250
4591	TRIM37	HP:0002970	Genu varum	-	OMIM:615777
4591	TRIM37	HP:0001635	Congestive heart failure	-	OMIM:253250
4591	TRIM37	HP:0000303	Mandibular prognathia	-	OMIM:131300
4591	TRIM37	HP:0005280	Depressed nasal bridge	38/42	OMIM:253250
4591	TRIM37	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4591	TRIM37	HP:0000483	Astigmatism	-	OMIM:253250
4591	TRIM37	HP:0000486	Strabismus	6/42	OMIM:253250
4591	TRIM37	HP:0001789	Hydrops fetalis	1/42	OMIM:253250
4591	TRIM37	HP:0000470	Short neck	1/7	OMIM:615777
4591	TRIM37	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4591	TRIM37	HP:0001763	Pes planus	1/7	OMIM:615777
4591	TRIM37	HP:0000445	Wide nose	38/42	OMIM:253250
4591	TRIM37	HP:0000431	Wide nasal bridge	-	OMIM:253250
4591	TRIM37	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:2576
4591	TRIM37	HP:0001840	Metatarsus adductus	-	OMIM:615777
4591	TRIM37	HP:0000520	Proptosis	2/4	OMIM:131300
4591	TRIM37	HP:0000520	Proptosis	7/7	OMIM:615777
4591	TRIM37	HP:0000580	Pigmentary retinopathy	-	OMIM:253250
4591	TRIM37	HP:0000592	Blue sclerae	2/7	OMIM:615777
4591	TRIM37	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4591	TRIM37	HP:0012514	Lower limb pain	4/4	OMIM:131300
4593	MUSK	HP:0001196	Short umbilical cord	-	OMIM:208150
4593	MUSK	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	-	OMIM:208150
4593	MUSK	HP:0010880	Increased nuchal translucency	1/6	OMIM:208150
4593	MUSK	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:98913
4593	MUSK	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:994
4593	MUSK	HP:0003700	Generalized amyotrophy	-	OMIM:208150
4593	MUSK	HP:0001290	Generalized hypotonia	-	OMIM:608931
4593	MUSK	HP:0001270	Motor delay	-	OMIM:608931
4593	MUSK	HP:0001252	Hypotonia	-	OMIM:608931
4593	MUSK	HP:0001252	Hypotonia	1/1	OMIM:616325
4593	MUSK	HP:0001260	Dysarthria	-	OMIM:608931
4593	MUSK	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:994
4593	MUSK	HP:0001239	Wrist flexion contracture	12/12	OMIM:208150
4593	MUSK	HP:0002515	Waddling gait	2/6	OMIM:616325
4593	MUSK	HP:0003828	Variable expressivity	-	OMIM:608931
4593	MUSK	HP:0003826	Stillbirth	-	OMIM:208150
4593	MUSK	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:98913
4593	MUSK	HP:0001371	Flexion contracture	0/1	OMIM:616325
4593	MUSK	HP:0025331	Upgaze palsy	2/2	OMIM:616325
4593	MUSK	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:994
4593	MUSK	HP:0000028	Cryptorchidism	7/7	OMIM:208150
4593	MUSK	HP:0410011	Abnormality of masticatory muscle	HP:0040282	ORPHA:98913
4593	MUSK	HP:0001331	Absent septum pellucidum	-	OMIM:208150
4593	MUSK	HP:0001324	Muscle weakness	HP:0040282	ORPHA:98913
4593	MUSK	HP:0000007	Autosomal recessive inheritance	-	OMIM:608931
4593	MUSK	HP:0000007	Autosomal recessive inheritance	-	OMIM:616325
4593	MUSK	HP:0000007	Autosomal recessive inheritance	-	OMIM:208150
4593	MUSK	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:994
4593	MUSK	HP:0002650	Scoliosis	1/2	OMIM:616325
4593	MUSK	HP:0002650	Scoliosis	HP:0040282	ORPHA:994
4593	MUSK	HP:0002650	Scoliosis	HP:0040283	ORPHA:98913
4593	MUSK	HP:0001321	Cerebellar hypoplasia	-	OMIM:208150
4593	MUSK	HP:0001319	Neonatal hypotonia	-	OMIM:616325
4593	MUSK	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:98913
4593	MUSK	HP:0031108	Triceps weakness	HP:0040283	ORPHA:98913
4593	MUSK	HP:0000160	Narrow mouth	3/11	OMIM:208150
4593	MUSK	HP:0000175	Cleft palate	HP:0040282	ORPHA:994
4593	MUSK	HP:0000175	Cleft palate	0/13	OMIM:208150
4593	MUSK	HP:0008997	Proximal muscle weakness in upper limbs	3/8	OMIM:616325
4593	MUSK	HP:0008944	Distal lower limb amyotrophy	1/1	OMIM:616325
4593	MUSK	HP:0002705	High, narrow palate	-	OMIM:208150
4593	MUSK	HP:0006266	Small placenta	-	OMIM:208150
4593	MUSK	HP:0001446	Abnormality of the musculature of the upper limbs	HP:0040282	ORPHA:98913
4593	MUSK	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:98913
4593	MUSK	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:608931
4593	MUSK	HP:0003327	Axial muscle weakness	1/1	OMIM:616325
4593	MUSK	HP:0002015	Dysphagia	-	OMIM:608931
4593	MUSK	HP:0002015	Dysphagia	1/3	OMIM:616325
4593	MUSK	HP:0003307	Hyperlordosis	2/5	OMIM:616325
4593	MUSK	HP:0003324	Generalized muscle weakness	1/1	OMIM:616325
4593	MUSK	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:994
4593	MUSK	HP:0002089	Pulmonary hypoplasia	13/13	OMIM:208150
4593	MUSK	HP:0002093	Respiratory insufficiency	3/7	OMIM:616325
4593	MUSK	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:994
4593	MUSK	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:98913
4593	MUSK	HP:0003394	Muscle spasm	-	OMIM:608931
4593	MUSK	HP:0003391	Gowers sign	-	OMIM:608931
4593	MUSK	HP:0003391	Gowers sign	5/6	OMIM:616325
4593	MUSK	HP:0003388	Easy fatigability	-	OMIM:608931
4593	MUSK	HP:0003388	Easy fatigability	7/7	OMIM:616325
4593	MUSK	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98913
4593	MUSK	HP:0010489	Absent palmar crease	HP:0040281	ORPHA:994
4593	MUSK	HP:0009487	Ulnar deviation of the hand	-	OMIM:208150
4593	MUSK	HP:0003473	Fatigable weakness	20/20	OMIM:608931
4593	MUSK	HP:0003473	Fatigable weakness	1/1	OMIM:616325
4593	MUSK	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:98913
4593	MUSK	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98913
4593	MUSK	HP:0003443	Decreased size of nerve terminals	-	OMIM:608931
4593	MUSK	HP:0003443	Decreased size of nerve terminals	HP:0040282	ORPHA:98913
4593	MUSK	HP:0003402	Decreased miniature endplate potentials	HP:0040282	ORPHA:98913
4593	MUSK	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1/1	OMIM:608931
4593	MUSK	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2/3	OMIM:616325
4593	MUSK	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040282	ORPHA:98913
4593	MUSK	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:98913
4593	MUSK	HP:0100490	Camptodactyly of finger	-	OMIM:208150
4593	MUSK	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:994
4593	MUSK	HP:0010535	Sleep apnea	1/1	OMIM:616325
4593	MUSK	HP:0003593	Infantile onset	-	OMIM:608931
4593	MUSK	HP:0003593	Infantile onset	-	OMIM:616325
4593	MUSK	HP:0003577	Congenital onset	1/1	OMIM:616325
4593	MUSK	HP:0003577	Congenital onset	14/14	OMIM:208150
4593	MUSK	HP:0003554	Type 2 muscle fiber atrophy	-	OMIM:608931
4593	MUSK	HP:0003547	Shoulder girdle muscle weakness	2/5	OMIM:616325
4593	MUSK	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:98913
4593	MUSK	HP:0011968	Feeding difficulties	-	OMIM:608931
4593	MUSK	HP:0010628	Facial palsy	-	OMIM:608931
4593	MUSK	HP:0010628	Facial palsy	HP:0040282	ORPHA:98913
4593	MUSK	HP:0002389	Cavum septum pellucidum	-	OMIM:208150
4593	MUSK	HP:0002380	Fasciculations	0/1	OMIM:616325
4593	MUSK	HP:0001059	Pterygium	HP:0040283	ORPHA:994
4593	MUSK	HP:0002375	Hypokinesia	HP:0040281	ORPHA:994
4593	MUSK	HP:0003680	Nonprogressive	-	OMIM:608931
4593	MUSK	HP:0002329	Drowsiness	HP:0040283	ORPHA:98913
4593	MUSK	HP:0003623	Neonatal onset	1/1	OMIM:616325
4593	MUSK	HP:0002304	Akinesia	HP:0040281	ORPHA:994
4593	MUSK	HP:0009077	Weakness of long finger extensor muscles	HP:0040283	ORPHA:98913
4593	MUSK	HP:0000651	Diplopia	HP:0040283	ORPHA:98913
4593	MUSK	HP:0000602	Ophthalmoplegia	6/6	OMIM:616325
4593	MUSK	HP:0000689	Dental malocclusion	-	OMIM:608931
4593	MUSK	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040282	ORPHA:98913
4593	MUSK	HP:0001989	Fetal akinesia sequence	HP:0040281	ORPHA:994
4593	MUSK	HP:0001989	Fetal akinesia sequence	-	OMIM:208150
4593	MUSK	HP:0005659	Thoracic kyphoscoliosis	HP:0040283	ORPHA:98913
4593	MUSK	HP:0003070	Elbow ankylosis	-	OMIM:208150
4593	MUSK	HP:0012745	Short palpebral fissure	-	OMIM:208150
4593	MUSK	HP:0011463	Childhood onset	1/1	OMIM:608931
4593	MUSK	HP:0011463	Childhood onset	6/6	OMIM:616325
4593	MUSK	HP:0012764	Orthopnea	HP:0040283	ORPHA:98913
4593	MUSK	HP:0003100	Slender long bone	-	OMIM:208150
4593	MUSK	HP:0003199	Decreased muscle mass	-	OMIM:608931
4593	MUSK	HP:0003199	Decreased muscle mass	6/10	OMIM:208150
4593	MUSK	HP:0000883	Thin ribs	-	OMIM:208150
4593	MUSK	HP:0003202	Skeletal muscle atrophy	-	OMIM:608931
4593	MUSK	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:98913
4593	MUSK	HP:0034391	Elbow contracture	5/12	OMIM:208150
4593	MUSK	HP:0003273	Hip contracture	10/13	OMIM:208150
4593	MUSK	HP:0000961	Cyanosis	HP:0040283	ORPHA:98913
4593	MUSK	HP:0000276	Long face	-	OMIM:608931
4593	MUSK	HP:0002828	Multiple joint contractures	HP:0040281	ORPHA:994
4593	MUSK	HP:0002803	Congenital contracture	5/5	OMIM:208150
4593	MUSK	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:608931
4593	MUSK	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:994
4593	MUSK	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:208150
4593	MUSK	HP:0000238	Hydrocephalus	-	OMIM:208150
4593	MUSK	HP:0002878	Respiratory failure	HP:0040283	ORPHA:98913
4593	MUSK	HP:0000218	High palate	-	OMIM:608931
4593	MUSK	HP:0000218	High palate	-	OMIM:208150
4593	MUSK	HP:0000218	High palate	HP:0040282	ORPHA:98913
4593	MUSK	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:98913
4593	MUSK	HP:0001561	Polyhydramnios	11/13	OMIM:208150
4593	MUSK	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:994
4593	MUSK	HP:0001558	Decreased fetal movement	-	OMIM:608931
4593	MUSK	HP:0001558	Decreased fetal movement	6/7	OMIM:208150
4593	MUSK	HP:0031374	Ankle weakness	HP:0040283	ORPHA:98913
4593	MUSK	HP:0001518	Small for gestational age	-	OMIM:208150
4593	MUSK	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:994
4593	MUSK	HP:0001511	Intrauterine growth retardation	2/12	OMIM:208150
4593	MUSK	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	0/3	OMIM:616325
4593	MUSK	HP:0005257	Thoracic hypoplasia	-	OMIM:208150
4593	MUSK	HP:0005245	Intestinal hypoplasia	HP:0040283	ORPHA:994
4593	MUSK	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040283	ORPHA:98913
4593	MUSK	HP:0001612	Weak cry	-	OMIM:608931
4593	MUSK	HP:0001611	Hypernasal speech	2/7	OMIM:616325
4593	MUSK	HP:0030199	Fatigable weakness of neck muscles	HP:0040282	ORPHA:98913
4593	MUSK	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:994
4593	MUSK	HP:0000358	Posteriorly rotated ears	-	OMIM:208150
4593	MUSK	HP:0000369	Low-set ears	8/12	OMIM:208150
4593	MUSK	HP:0000343	Long philtrum	-	OMIM:208150
4593	MUSK	HP:0000347	Micrognathia	HP:0040281	ORPHA:994
4593	MUSK	HP:0000347	Micrognathia	8/13	OMIM:208150
4593	MUSK	HP:0000316	Hypertelorism	HP:0040282	ORPHA:994
4593	MUSK	HP:0000316	Hypertelorism	9/12	OMIM:208150
4593	MUSK	HP:0001622	Premature birth	-	OMIM:208150
4593	MUSK	HP:0000303	Mandibular prognathia	-	OMIM:608931
4593	MUSK	HP:0030319	Weakness of facial musculature	6/6	OMIM:616325
4593	MUSK	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:994
4593	MUSK	HP:0000486	Strabismus	-	OMIM:608931
4593	MUSK	HP:0030210	Anti-muscle-specific tyrosine kinase antibody	0/2	OMIM:616325
4593	MUSK	HP:0012473	Tongue atrophy	1/1	OMIM:616325
4593	MUSK	HP:0000476	Cystic hygroma	HP:0040282	ORPHA:994
4593	MUSK	HP:0000476	Cystic hygroma	1/6	OMIM:208150
4593	MUSK	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:98913
4593	MUSK	HP:0001790	Nonimmune hydrops fetalis	1/6	OMIM:208150
4593	MUSK	HP:0000470	Short neck	-	OMIM:208150
4593	MUSK	HP:0000467	Neck muscle weakness	13/17	OMIM:616325
4593	MUSK	HP:0000437	Depressed nasal tip	-	OMIM:208150
4593	MUSK	HP:0001762	Talipes equinovarus	3/5	OMIM:208150
4593	MUSK	HP:0000520	Proptosis	-	OMIM:208150
4593	MUSK	HP:0001838	Rocker bottom foot	1/12	OMIM:208150
4593	MUSK	HP:0000506	Telecanthus	-	OMIM:208150
4593	MUSK	HP:0000508	Ptosis	1/1	OMIM:608931
4593	MUSK	HP:0000508	Ptosis	8/8	OMIM:616325
4593	MUSK	HP:0000508	Ptosis	-	OMIM:208150
4593	MUSK	HP:0000508	Ptosis	HP:0040282	ORPHA:98913
4593	MUSK	HP:0000597	Ophthalmoparesis	1/1	OMIM:608931
4593	MUSK	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:98913
4593	MUSK	HP:0000581	Blepharophimosis	-	OMIM:208150
4593	MUSK	HP:0012515	Hip flexor weakness	HP:0040283	ORPHA:98913
4594	MMUT	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:251000
4594	MMUT	HP:0002453	Abnormal globus pallidus morphology	-	OMIM:251000
4594	MMUT	HP:0001297	Stroke	HP:0040283	ORPHA:79312
4594	MMUT	HP:0100806	Sepsis	HP:0040283	ORPHA:289916
4594	MMUT	HP:0001254	Lethargy	HP:0040281	ORPHA:289916
4594	MMUT	HP:0001254	Lethargy	HP:0040281	ORPHA:79312
4594	MMUT	HP:0001254	Lethargy	76/266	OMIM:251000
4594	MMUT	HP:0001250	Seizure	58/266	OMIM:251000
4594	MMUT	HP:0001250	Seizure	HP:0040283	ORPHA:79312
4594	MMUT	HP:0001252	Hypotonia	HP:0040282	ORPHA:289916
4594	MMUT	HP:0001252	Hypotonia	1/10	OMIM:251000
4594	MMUT	HP:0001252	Hypotonia	HP:0040282	ORPHA:79312
4594	MMUT	HP:0001249	Intellectual disability	HP:0040282	ORPHA:289916
4594	MMUT	HP:0001249	Intellectual disability	HP:0040282	ORPHA:79312
4594	MMUT	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:289916
4594	MMUT	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:79312
4594	MMUT	HP:0001260	Dysarthria	HP:0040282	ORPHA:79312
4594	MMUT	HP:0001263	Global developmental delay	HP:0040282	ORPHA:289916
4594	MMUT	HP:0001263	Global developmental delay	-	OMIM:251000
4594	MMUT	HP:0001263	Global developmental delay	HP:0040282	ORPHA:79312
4594	MMUT	HP:0001259	Coma	HP:0040281	ORPHA:289916
4594	MMUT	HP:0001259	Coma	56/266	OMIM:251000
4594	MMUT	HP:0001259	Coma	HP:0040281	ORPHA:79312
4594	MMUT	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:289916
4594	MMUT	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:79312
4594	MMUT	HP:0001332	Dystonia	HP:0040282	ORPHA:79312
4594	MMUT	HP:0001332	Dystonia	HP:0040283	ORPHA:289916
4594	MMUT	HP:0001324	Muscle weakness	63/266	OMIM:251000
4594	MMUT	HP:0000007	Autosomal recessive inheritance	-	OMIM:251000
4594	MMUT	HP:0012120	Methylmalonic aciduria	267/267	OMIM:251000
4594	MMUT	HP:0000124	Renal tubular dysfunction	HP:0040283	ORPHA:289916
4594	MMUT	HP:0002721	Immunodeficiency	HP:0040282	ORPHA:79312
4594	MMUT	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:289916
4594	MMUT	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:79312
4594	MMUT	HP:0002027	Abdominal pain	HP:0040283	ORPHA:79312
4594	MMUT	HP:0002014	Diarrhea	47/266	OMIM:251000
4594	MMUT	HP:0002013	Vomiting	81/266	OMIM:251000
4594	MMUT	HP:0005979	Metabolic ketoacidosis	8/10	OMIM:251000
4594	MMUT	HP:0002098	Respiratory distress	HP:0040282	ORPHA:289916
4594	MMUT	HP:0002098	Respiratory distress	HP:0040281	ORPHA:79312
4594	MMUT	HP:0002098	Respiratory distress	1/1	OMIM:251000
4594	MMUT	HP:0002072	Chorea	HP:0040283	ORPHA:289916
4594	MMUT	HP:0002039	Anorexia	HP:0040281	ORPHA:79312
4594	MMUT	HP:0002154	Hyperglycinemia	-	OMIM:251000
4594	MMUT	HP:0002188	Delayed CNS myelination	-	OMIM:251000
4594	MMUT	HP:0003593	Infantile onset	3/10	OMIM:251000
4594	MMUT	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:79312
4594	MMUT	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:289916
4594	MMUT	HP:0002240	Hepatomegaly	-	OMIM:251000
4594	MMUT	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:79312
4594	MMUT	HP:0011968	Feeding difficulties	124/266	OMIM:251000
4594	MMUT	HP:0003623	Neonatal onset	6/11	OMIM:251000
4594	MMUT	HP:0004911	Episodic metabolic acidosis	1/1	OMIM:251000
4594	MMUT	HP:0001970	Tubulointerstitial nephritis	-	OMIM:251000
4594	MMUT	HP:0000648	Optic atrophy	HP:0040283	ORPHA:79312
4594	MMUT	HP:0000648	Optic atrophy	HP:0040283	ORPHA:289916
4594	MMUT	HP:0001944	Dehydration	-	OMIM:251000
4594	MMUT	HP:0001944	Dehydration	HP:0040281	ORPHA:79312
4594	MMUT	HP:0001943	Hypoglycemia	1/1	OMIM:251000
4594	MMUT	HP:0001903	Anemia	HP:0040283	ORPHA:79312
4594	MMUT	HP:0001903	Anemia	HP:0040283	ORPHA:289916
4594	MMUT	HP:0001987	Hyperammonemia	HP:0040283	ORPHA:289916
4594	MMUT	HP:0001987	Hyperammonemia	1/1	OMIM:251000
4594	MMUT	HP:0001987	Hyperammonemia	HP:0040281	ORPHA:79312
4594	MMUT	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:289916
4594	MMUT	HP:0100022	Abnormality of movement	HP:0040283	ORPHA:79312
4594	MMUT	HP:0011463	Childhood onset	2/10	OMIM:251000
4594	MMUT	HP:0040126	Abnormal circulating vitamin B12 concentration	0/1	OMIM:251000
4594	MMUT	HP:0011695	Cerebellar hemorrhage	HP:0040283	OMIM:251000
4594	MMUT	HP:0001508	Failure to thrive	HP:0040281	ORPHA:79312
4594	MMUT	HP:0001508	Failure to thrive	-	OMIM:251000
4594	MMUT	HP:0001510	Growth delay	HP:0040281	ORPHA:289916
4594	MMUT	HP:0002912	Methylmalonic acidemia	1/1	OMIM:251000
4594	MMUT	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:79312
4594	MMUT	HP:0001638	Cardiomyopathy	-	OMIM:251000
4594	MMUT	HP:0001733	Pancreatitis	HP:0040283	ORPHA:289916
4594	MMUT	HP:0001733	Pancreatitis	-	OMIM:251000
4594	MMUT	HP:0001733	Pancreatitis	HP:0040283	ORPHA:79312
4594	MMUT	HP:0001744	Splenomegaly	HP:0040282	ORPHA:79312
4594	MMUT	HP:0001882	Decreased total leukocyte count	-	OMIM:251000
4594	MMUT	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:79312
4594	MMUT	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:289916
4594	MMUT	HP:0001873	Thrombocytopenia	1/1	OMIM:251000
4594	MMUT	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:289916
4594	MMUT	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:79312
4594	MMUT	HP:0001875	Decreased total neutrophil count	1/1	OMIM:251000
4595	MUTYH	HP:0001123	Visual field defect	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0001276	Hypertonia	HP:0040282	ORPHA:440437
4595	MUTYH	HP:0001288	Gait disturbance	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0001250	Seizure	HP:0040282	ORPHA:440437
4595	MUTYH	HP:0001252	Hypotonia	HP:0040282	ORPHA:440437
4595	MUTYH	HP:0001260	Dysarthria	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0002576	Intussusception	HP:0040283	OMIM:174900
4595	MUTYH	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
4595	MUTYH	HP:0100896	Rectal polyposis	HP:0040282	ORPHA:247798
4595	MUTYH	HP:0001217	Clubbing	HP:0040283	OMIM:174900
4595	MUTYH	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:440437
4595	MUTYH	HP:0001371	Flexion contracture	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
4595	MUTYH	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
4595	MUTYH	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:440437
4595	MUTYH	HP:0012126	Stomach cancer	HP:0040284	ORPHA:440437
4595	MUTYH	HP:0012126	Stomach cancer	-	OMIM:613659
4595	MUTYH	HP:0410067	Increased level of L-fucose in urine	-	OMIM:613659
4595	MUTYH	HP:0007649	Congenital hypertrophy of retinal pigment epithelium	HP:0040284	ORPHA:247798
4595	MUTYH	HP:0012113	Abnormal circulating creatine concentration	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0001442	Typified by somatic mosaicism	-	OMIM:613659
4595	MUTYH	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0002024	Malabsorption	HP:0040281	ORPHA:440437
4595	MUTYH	HP:0002019	Constipation	HP:0040281	ORPHA:440437
4595	MUTYH	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:440437
4595	MUTYH	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
4595	MUTYH	HP:0002027	Abdominal pain	HP:0040281	ORPHA:440437
4595	MUTYH	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
4595	MUTYH	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
4595	MUTYH	HP:0002076	Migraine	HP:0040282	ORPHA:440437
4595	MUTYH	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0040276	Adenocarcinoma of the colon	HP:0040282	ORPHA:247798
4595	MUTYH	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0010526	Dysgraphia	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0003401	Paresthesia	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:440437
4595	MUTYH	HP:0009726	Renal neoplasm	-	ORPHA:440437
4595	MUTYH	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:440437
4595	MUTYH	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:440437
4595	MUTYH	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0002376	Developmental regression	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0002354	Memory impairment	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0100660	Dyskinesia	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0200063	Colorectal polyposis	HP:0040281	ORPHA:247798
4595	MUTYH	HP:0100615	Ovarian neoplasm	-	ORPHA:440437
4595	MUTYH	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0010784	Uterine neoplasm	HP:0040284	ORPHA:440437
4595	MUTYH	HP:0001903	Anemia	HP:0040282	OMIM:174900
4595	MUTYH	HP:0003003	Colon cancer	20%	OMIM:174900
4595	MUTYH	HP:0003003	Colon cancer	5/12	OMIM:608456
4595	MUTYH	HP:0003073	Hypoalbuminemia	-	OMIM:174900
4595	MUTYH	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
4595	MUTYH	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0100013	Neoplasm of the breast	-	ORPHA:440437
4595	MUTYH	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0000738	Hallucinations	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0000737	Irritability	HP:0040282	ORPHA:440437
4595	MUTYH	HP:0000739	Anxiety	HP:0040282	ORPHA:440437
4595	MUTYH	HP:0000716	Depression	HP:0040282	ORPHA:440437
4595	MUTYH	HP:0000708	Atypical behavior	HP:0040282	ORPHA:440437
4595	MUTYH	HP:0100273	Neoplasm of the colon	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0100245	Gastrointestinal desmoid tumor	-	ORPHA:247798
4595	MUTYH	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
4595	MUTYH	HP:0012378	Fatigue	HP:0040281	ORPHA:440437
4595	MUTYH	HP:0005227	Adenomatous colonic polyposis	HP:0040282	ORPHA:247798
4595	MUTYH	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
4595	MUTYH	HP:0002900	Hypokalemia	-	OMIM:174900
4595	MUTYH	HP:0030255	Large intestinal polyposis	HP:0040282	ORPHA:247798
4595	MUTYH	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
4595	MUTYH	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:440437
4595	MUTYH	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
4595	MUTYH	HP:0001824	Weight loss	HP:0040281	ORPHA:440437
4595	MUTYH	HP:0000505	Visual impairment	HP:0040283	ORPHA:440437
4597	MVD	HP:0000006	Autosomal dominant inheritance	-	OMIM:614714
4597	MVD	HP:0001036	Parakeratosis	-	OMIM:614714
4597	MVD	HP:0200044	Porokeratosis	HP:0040281	ORPHA:79152
4597	MVD	HP:0200044	Porokeratosis	-	OMIM:614714
4597	MVD	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:79152
4597	MVD	HP:0000989	Pruritus	HP:0040283	ORPHA:79152
4597	MVD	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:79152
4598	MVK	HP:0025143	Chills	38/50	OMIM:260920
4598	MVK	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
4598	MVK	HP:0410246	Increased circulating IgD concentration	53/60	OMIM:260920
4598	MVK	HP:0410246	Increased circulating IgD concentration	2/3	OMIM:610377
4598	MVK	HP:6000606	Elevated urinary D-glyceric acid level	-	OMIM:610377
4598	MVK	HP:0001290	Generalized hypotonia	-	OMIM:610377
4598	MVK	HP:0001272	Cerebellar atrophy	3/3	OMIM:610377
4598	MVK	HP:0002586	Peritonitis	HP:0040283	ORPHA:343
4598	MVK	HP:0001250	Seizure	HP:0040283	ORPHA:343
4598	MVK	HP:0001250	Seizure	HP:0040281	ORPHA:29
4598	MVK	HP:0001252	Hypotonia	HP:0040281	ORPHA:29
4598	MVK	HP:0001252	Hypotonia	1/1	OMIM:610377
4598	MVK	HP:0001251	Ataxia	HP:0040283	ORPHA:343
4598	MVK	HP:0001251	Ataxia	HP:0040282	ORPHA:29
4598	MVK	HP:0001251	Ataxia	4/4	OMIM:610377
4598	MVK	HP:0001249	Intellectual disability	HP:0040281	ORPHA:29
4598	MVK	HP:0001260	Dysarthria	1/3	OMIM:610377
4598	MVK	HP:0001263	Global developmental delay	HP:0040283	ORPHA:343
4598	MVK	HP:0001263	Global developmental delay	HP:0040281	ORPHA:29
4598	MVK	HP:0001263	Global developmental delay	16/16	OMIM:610377
4598	MVK	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:343
4598	MVK	HP:0001369	Arthritis	40/60	OMIM:260920
4598	MVK	HP:0001369	Arthritis	HP:0040282	ORPHA:343
4598	MVK	HP:0000007	Autosomal recessive inheritance	-	OMIM:610377
4598	MVK	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
4598	MVK	HP:0000007	Autosomal recessive inheritance	-	OMIM:260920
4598	MVK	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
4598	MVK	HP:0000006	Autosomal dominant inheritance	-	OMIM:175900
4598	MVK	HP:0002633	Vasculitis	HP:0040282	ORPHA:343
4598	MVK	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:610377
4598	MVK	HP:0000155	Oral ulcer	6/10	OMIM:260920
4598	MVK	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
4598	MVK	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
4598	MVK	HP:0006268	Fluctuating splenomegaly	-	OMIM:610377
4598	MVK	HP:0001433	Hepatosplenomegaly	10/10	OMIM:260920
4598	MVK	HP:0001433	Hepatosplenomegaly	5/6	OMIM:610377
4598	MVK	HP:0002751	Kyphoscoliosis	2/3	OMIM:610377
4598	MVK	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:29
4598	MVK	HP:0002719	Recurrent infections	13/50	OMIM:260920
4598	MVK	HP:0002719	Recurrent infections	3/3	OMIM:610377
4598	MVK	HP:0002716	Lymphadenopathy	82/100	OMIM:260920
4598	MVK	HP:0002716	Lymphadenopathy	2/3	OMIM:610377
4598	MVK	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:343
4598	MVK	HP:0002027	Abdominal pain	74/110	OMIM:260920
4598	MVK	HP:0002027	Abdominal pain	HP:0040281	ORPHA:343
4598	MVK	HP:0002028	Chronic diarrhea	44/60	OMIM:260920
4598	MVK	HP:0003326	Myalgia	8/10	OMIM:260920
4598	MVK	HP:0003326	Myalgia	HP:0040281	ORPHA:343
4598	MVK	HP:0002014	Diarrhea	41/50	OMIM:260920
4598	MVK	HP:0002014	Diarrhea	2/3	OMIM:610377
4598	MVK	HP:0002014	Diarrhea	HP:0040282	ORPHA:343
4598	MVK	HP:0002013	Vomiting	31/60	OMIM:260920
4598	MVK	HP:0002013	Vomiting	2/3	OMIM:610377
4598	MVK	HP:0002076	Migraine	HP:0040282	ORPHA:343
4598	MVK	HP:0002073	Progressive cerebellar ataxia	-	OMIM:610377
4598	MVK	HP:0002059	Cerebral atrophy	-	OMIM:610377
4598	MVK	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:29
4598	MVK	HP:0011897	Increased total neutrophil count	-	OMIM:260920
4598	MVK	HP:0003593	Infantile onset	30/50	OMIM:260920
4598	MVK	HP:0003593	Infantile onset	3/3	OMIM:610377
4598	MVK	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:343
4598	MVK	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:343
4598	MVK	HP:0003565	Elevated erythrocyte sedimentation rate	10/10	OMIM:260920
4598	MVK	HP:0003565	Elevated erythrocyte sedimentation rate	2/3	OMIM:610377
4598	MVK	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040281	ORPHA:343
4598	MVK	HP:0008404	Nail dystrophy	HP:0040283	OMIM:175900
4598	MVK	HP:0004819	Normocytic hypoplastic anemia	-	OMIM:610377
4598	MVK	HP:0001063	Acrocyanosis	HP:0040283	ORPHA:343
4598	MVK	HP:0001036	Parakeratosis	-	OMIM:175900
4598	MVK	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2/10	OMIM:260920
4598	MVK	HP:0002335	Agenesis of cerebellar vermis	-	OMIM:610377
4598	MVK	HP:0001025	Urticaria	HP:0040282	ORPHA:343
4598	MVK	HP:0002321	Vertigo	-	OMIM:260920
4598	MVK	HP:0002315	Headache	26/50	OMIM:260920
4598	MVK	HP:0200034	Papule	HP:0040282	ORPHA:343
4598	MVK	HP:0200044	Porokeratosis	-	OMIM:175900
4598	MVK	HP:0200044	Porokeratosis	HP:0040281	ORPHA:79152
4598	MVK	HP:0200044	Porokeratosis	HP:0040281	ORPHA:735
4598	MVK	HP:0010783	Erythema	HP:0040283	ORPHA:343
4598	MVK	HP:0032163	Molluscum contagiosum	1/10	OMIM:260920
4598	MVK	HP:0003621	Juvenile onset	8/19	OMIM:180100
4598	MVK	HP:0003621	Juvenile onset	-	OMIM:175900
4598	MVK	HP:0009098	Chronic oral candidiasis	2/10	OMIM:260920
4598	MVK	HP:0000639	Nystagmus	-	OMIM:610377
4598	MVK	HP:0001974	Increased total leukocyte count	-	OMIM:260920
4598	MVK	HP:0001974	Increased total leukocyte count	3/3	OMIM:610377
4598	MVK	HP:0001954	Recurrent fever	50/50	OMIM:260920
4598	MVK	HP:0001954	Recurrent fever	HP:0040281	ORPHA:343
4598	MVK	HP:0001903	Anemia	3/3	OMIM:610377
4598	MVK	HP:0000662	Nyctalopia	-	OMIM:260920
4598	MVK	HP:0000662	Nyctalopia	26/28	OMIM:180100
4598	MVK	HP:0004322	Short stature	HP:0040281	ORPHA:29
4598	MVK	HP:0004322	Short stature	3/3	OMIM:610377
4598	MVK	HP:0100018	Nuclear cataract	2/3	OMIM:610377
4598	MVK	HP:0011463	Childhood onset	3/19	OMIM:180100
4598	MVK	HP:0011462	Young adult onset	8/19	OMIM:180100
4598	MVK	HP:0003236	Elevated circulating creatine kinase concentration	4/4	OMIM:610377
4598	MVK	HP:0045073	Serositis	3/50	OMIM:260920
4598	MVK	HP:0003261	Increased circulating IgA concentration	26/40	OMIM:260920
4598	MVK	HP:0003261	Increased circulating IgA concentration	HP:0040281	ORPHA:343
4598	MVK	HP:0000979	Purpura	HP:0040283	ORPHA:343
4598	MVK	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:735
4598	MVK	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:79152
4598	MVK	HP:0000989	Pruritus	HP:0040282	ORPHA:735
4598	MVK	HP:0000989	Pruritus	HP:0040283	ORPHA:79152
4598	MVK	HP:0000988	Skin rash	20/20	OMIM:260920
4598	MVK	HP:0000988	Skin rash	2/3	OMIM:610377
4598	MVK	HP:0000969	Edema	2/3	OMIM:610377
4598	MVK	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:735
4598	MVK	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:735
4598	MVK	HP:0012282	Morbilliform rash	-	OMIM:610377
4598	MVK	HP:0000268	Dolichocephaly	-	OMIM:610377
4598	MVK	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:29
4598	MVK	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
4598	MVK	HP:0002829	Arthralgia	33/50	OMIM:260920
4598	MVK	HP:0002829	Arthralgia	-	OMIM:610377
4598	MVK	HP:0002829	Arthralgia	HP:0040281	ORPHA:343
4598	MVK	HP:0032638	Elevated urine mevalonic acid level	33/33	OMIM:260920
4598	MVK	HP:0032638	Elevated urine mevalonic acid level	7/7	OMIM:610377
4598	MVK	HP:0000239	Large fontanelles	HP:0040281	ORPHA:29
4598	MVK	HP:0000239	Large fontanelles	-	OMIM:610377
4598	MVK	HP:0000252	Microcephaly	HP:0040281	ORPHA:29
4598	MVK	HP:0000252	Microcephaly	2/3	OMIM:610377
4598	MVK	HP:0001531	Failure to thrive in infancy	3/3	OMIM:610377
4598	MVK	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:79152
4598	MVK	HP:0002840	Lymphadenitis	8/10	OMIM:260920
4598	MVK	HP:0001508	Failure to thrive	-	OMIM:610377
4598	MVK	HP:0001510	Growth delay	HP:0040283	ORPHA:343
4598	MVK	HP:0007843	Attenuation of retinal blood vessels	3/3	OMIM:610377
4598	MVK	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
4598	MVK	HP:0006564	Fluctuating hepatomegaly	-	OMIM:610377
4598	MVK	HP:0005214	Intestinal obstruction	HP:0040283	ORPHA:343
4598	MVK	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:610377
4598	MVK	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:29
4598	MVK	HP:0000358	Posteriorly rotated ears	-	OMIM:610377
4598	MVK	HP:0000369	Low-set ears	-	OMIM:610377
4598	MVK	HP:0000325	Triangular face	2/3	OMIM:610377
4598	MVK	HP:0000325	Triangular face	HP:0040281	ORPHA:29
4598	MVK	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:29
4598	MVK	HP:0000494	Downslanted palpebral fissures	-	OMIM:610377
4598	MVK	HP:0011107	Recurrent aphthous stomatitis	HP:0040282	ORPHA:343
4598	MVK	HP:0001744	Splenomegaly	HP:0040281	ORPHA:29
4598	MVK	HP:0001744	Splenomegaly	42/60	OMIM:260920
4598	MVK	HP:0000430	Underdeveloped nasal alae	2/3	OMIM:610377
4598	MVK	HP:0006772	Renal angiomyolipoma	3/50	OMIM:260920
4598	MVK	HP:0000518	Cataract	HP:0040282	ORPHA:29
4598	MVK	HP:0000518	Cataract	3/3	OMIM:610377
4598	MVK	HP:0000510	Rod-cone dystrophy	HP:0040283	OMIM:260920
4598	MVK	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
4598	MVK	HP:0000575	Scotoma	5/18	OMIM:180100
4598	MVK	HP:0000592	Blue sclerae	HP:0040282	ORPHA:29
4598	MVK	HP:0000592	Blue sclerae	-	OMIM:610377
4598	MVK	HP:0011227	Elevated circulating C-reactive protein concentration	2/3	OMIM:610377
4598	MVK	HP:0000543	Optic disc pallor	-	OMIM:260920
4598	MVK	HP:0000543	Optic disc pallor	1/3	OMIM:610377
4598	MVK	HP:0000543	Optic disc pallor	1/1	OMIM:180100
4598	MVK	HP:0001873	Thrombocytopenia	-	OMIM:610377
4598	MVK	HP:0000545	Myopia	-	OMIM:180100
4601	MXI1	HP:0000006	Autosomal dominant inheritance	-	OMIM:176807
4601	MXI1	HP:0012125	Prostate cancer	-	OMIM:176807
4601	MXI1	HP:0001442	Typified by somatic mosaicism	-	OMIM:176807
4604	MYBPC1	HP:0001181	Adducted thumb	HP:0040281	ORPHA:1146
4604	MYBPC1	HP:0002460	Distal muscle weakness	-	OMIM:618524
4604	MYBPC1	HP:0003701	Proximal muscle weakness	-	OMIM:618524
4604	MYBPC1	HP:0001371	Flexion contracture	7/7	OMIM:618524
4604	MYBPC1	HP:0001371	Flexion contracture	-	OMIM:614915
4604	MYBPC1	HP:0001387	Joint stiffness	HP:0040282	ORPHA:1146
4604	MYBPC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614915
4604	MYBPC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614335
4604	MYBPC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618524
4604	MYBPC1	HP:0002650	Scoliosis	5/7	OMIM:618524
4604	MYBPC1	HP:0000160	Narrow mouth	1/7	OMIM:618524
4604	MYBPC1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:1146
4604	MYBPC1	HP:0003327	Axial muscle weakness	6/7	OMIM:618524
4604	MYBPC1	HP:0003306	Spinal rigidity	3/7	OMIM:618524
4604	MYBPC1	HP:0002093	Respiratory insufficiency	-	OMIM:614915
4604	MYBPC1	HP:0009465	Ulnar deviation of finger	HP:0040282	ORPHA:1146
4604	MYBPC1	HP:0009473	Joint contracture of the hand	5/12	OMIM:614335
4604	MYBPC1	HP:0003458	EMG: myopathic abnormalities	2/2	OMIM:618524
4604	MYBPC1	HP:0002174	Postural tremor	6/7	OMIM:618524
4604	MYBPC1	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:1146
4604	MYBPC1	HP:0010557	Overlapping fingers	HP:0040281	ORPHA:1146
4604	MYBPC1	HP:0003577	Congenital onset	4/4	OMIM:614915
4604	MYBPC1	HP:0008366	Foot joint contracture	HP:0040281	OMIM:614335
4604	MYBPC1	HP:0003691	Scapular winging	3/7	OMIM:618524
4604	MYBPC1	HP:0031947	Tongue tremor	3/7	OMIM:618524
4604	MYBPC1	HP:0005684	Distal arthrogryposis	HP:0040280	OMIM:614335
4604	MYBPC1	HP:0005684	Distal arthrogryposis	-	OMIM:614915
4604	MYBPC1	HP:0003202	Skeletal muscle atrophy	-	OMIM:614915
4604	MYBPC1	HP:0003272	Abnormal hip bone morphology	HP:0040283	ORPHA:1146
4604	MYBPC1	HP:0002828	Multiple joint contractures	-	OMIM:614915
4604	MYBPC1	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:614335
4604	MYBPC1	HP:0000218	High palate	3/7	OMIM:618524
4604	MYBPC1	HP:0012385	Camptodactyly	-	OMIM:614335
4604	MYBPC1	HP:0002938	Lumbar hyperlordosis	3/7	OMIM:618524
4604	MYBPC1	HP:0000347	Micrognathia	1/7	OMIM:618524
4604	MYBPC1	HP:0005272	Prominent nasolabial fold	1/7	OMIM:618524
4604	MYBPC1	HP:0001762	Talipes equinovarus	9/12	OMIM:614335
4604	MYBPC1	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:1146
4604	MYBPC1	HP:0001838	Rocker bottom foot	3/12	OMIM:614335
4604	MYBPC1	HP:0001883	Talipes	HP:0040282	ORPHA:1146
4607	MYBPC3	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
4607	MYBPC3	HP:0001297	Stroke	1/12	OMIM:115197
4607	MYBPC3	HP:0001279	Syncope	1/12	OMIM:115197
4607	MYBPC3	HP:0001279	Syncope	1/6	OMIM:615396
4607	MYBPC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:115197
4607	MYBPC3	HP:0000006	Autosomal dominant inheritance	-	OMIM:115197
4607	MYBPC3	HP:0000006	Autosomal dominant inheritance	-	OMIM:615396
4607	MYBPC3	HP:0033755	Increased left ventricular end-diastolic volume	1/6	OMIM:615396
4607	MYBPC3	HP:0002098	Respiratory distress	2/2	OMIM:115197
4607	MYBPC3	HP:0002094	Dyspnea	-	OMIM:115197
4607	MYBPC3	HP:0002092	Pulmonary arterial hypertension	1/6	OMIM:615396
4607	MYBPC3	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
4607	MYBPC3	HP:0011712	Complete right bundle branch block	-	OMIM:115197
4607	MYBPC3	HP:0011713	Left bundle branch block	-	OMIM:115197
4607	MYBPC3	HP:0011705	First degree atrioventricular block	1/2	OMIM:115197
4607	MYBPC3	HP:0100598	Pulmonary edema	1/2	OMIM:115197
4607	MYBPC3	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
4607	MYBPC3	HP:0002240	Hepatomegaly	-	OMIM:115197
4607	MYBPC3	HP:0003584	Late onset	1/6	OMIM:615396
4607	MYBPC3	HP:0003581	Adult onset	113/121	OMIM:115197
4607	MYBPC3	HP:0100749	Chest pain	-	OMIM:115197
4607	MYBPC3	HP:0002326	Transient ischemic attack	-	OMIM:115197
4607	MYBPC3	HP:0003623	Neonatal onset	2/2	OMIM:115197
4607	MYBPC3	HP:0003621	Juvenile onset	8/121	OMIM:115197
4607	MYBPC3	HP:0012664	Reduced left ventricular ejection fraction	1/2	OMIM:115197
4607	MYBPC3	HP:0030682	Left ventricular noncompaction	6/6	OMIM:615396
4607	MYBPC3	HP:0011462	Young adult onset	5/6	OMIM:615396
4607	MYBPC3	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
4607	MYBPC3	HP:0003198	Myopathy	HP:0040283	ORPHA:154
4607	MYBPC3	HP:0003198	Myopathy	-	OMIM:115197
4607	MYBPC3	HP:0030718	Right atrial enlargement	1/2	OMIM:115197
4607	MYBPC3	HP:0011623	Muscular ventricular septal defect	1/2	OMIM:115197
4607	MYBPC3	HP:0000969	Edema	HP:0040282	ORPHA:154
4607	MYBPC3	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
4607	MYBPC3	HP:0005144	Ventricular septal hypertrophy	1/2	OMIM:115197
4607	MYBPC3	HP:0031318	Myofiber disarray	2/2	OMIM:115197
4607	MYBPC3	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
4607	MYBPC3	HP:0001541	Ascites	1/2	OMIM:115197
4607	MYBPC3	HP:0012378	Fatigue	HP:0040282	ORPHA:154
4607	MYBPC3	HP:0001695	Cardiac arrest	-	OMIM:115197
4607	MYBPC3	HP:0001698	Pericardial effusion	-	OMIM:115197
4607	MYBPC3	HP:0001678	Atrioventricular block	-	OMIM:115197
4607	MYBPC3	HP:0001645	Sudden cardiac death	35/293	OMIM:115197
4607	MYBPC3	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
4607	MYBPC3	HP:0001644	Dilated cardiomyopathy	-	OMIM:615396
4607	MYBPC3	HP:0001663	Ventricular fibrillation	-	OMIM:115197
4607	MYBPC3	HP:0001640	Cardiomegaly	2/2	OMIM:115197
4607	MYBPC3	HP:0001639	Hypertrophic cardiomyopathy	2/2	OMIM:115197
4607	MYBPC3	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
4607	MYBPC3	HP:0001635	Congestive heart failure	2/2	OMIM:115197
4607	MYBPC3	HP:0001635	Congestive heart failure	1/6	OMIM:615396
4607	MYBPC3	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
4607	MYBPC3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
4607	MYBPC3	HP:0001714	Ventricular hypertrophy	68/117	OMIM:115197
4609	MYC	HP:0003745	Sporadic	-	OMIM:113970
4609	MYC	HP:0032218	Decreased proportion of CD4-positive T cells	HP:0040283	ORPHA:543
4609	MYC	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:543
4609	MYC	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:543
4609	MYC	HP:0000137	Abnormality of the ovary	HP:0040283	ORPHA:543
4609	MYC	HP:0001442	Typified by somatic mosaicism	-	OMIM:113970
4609	MYC	HP:0002733	Abnormal lymph node morphology	HP:0040283	ORPHA:543
4609	MYC	HP:0002721	Immunodeficiency	-	OMIM:113970
4609	MYC	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:543
4609	MYC	HP:0002027	Abdominal pain	HP:0040283	ORPHA:543
4609	MYC	HP:0002149	Hyperuricemia	HP:0040282	ORPHA:543
4609	MYC	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:543
4609	MYC	HP:0100649	Neoplasm of the oral cavity	HP:0040282	ORPHA:543
4609	MYC	HP:0005561	Abnormal bone marrow cell morphology	HP:0040282	ORPHA:543
4609	MYC	HP:0030080	Burkitt lymphoma	-	OMIM:113970
4609	MYC	HP:0005214	Intestinal obstruction	HP:0040283	ORPHA:543
4609	MYC	HP:0001732	Abnormality of the pancreas	HP:0040283	ORPHA:543
4609	MYC	HP:0001743	Abnormality of the spleen	HP:0040283	ORPHA:543
4613	MYCN	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4613	MYCN	HP:0001293	Cranial nerve compression	-	OMIM:131300
4613	MYCN	HP:0001270	Motor delay	2/2	OMIM:620748
4613	MYCN	HP:0001256	Intellectual disability, mild	39/77	OMIM:164280
4613	MYCN	HP:0001252	Hypotonia	2/7	OMIM:615777
4613	MYCN	HP:0001251	Ataxia	HP:0040284	ORPHA:635
4613	MYCN	HP:0001249	Intellectual disability	-	OMIM:164280
4613	MYCN	HP:0001249	Intellectual disability	HP:0040284	ORPHA:391641
4613	MYCN	HP:0001249	Intellectual disability	2/2	OMIM:620748
4613	MYCN	HP:0001249	Intellectual disability	5/7	OMIM:615777
4613	MYCN	HP:0001263	Global developmental delay	1/1	OMIM:620748
4613	MYCN	HP:0001263	Global developmental delay	-	OMIM:615777
4613	MYCN	HP:0002589	Gastrointestinal atresia	0/3	OMIM:620748
4613	MYCN	HP:0002589	Gastrointestinal atresia	42/77	OMIM:164280
4613	MYCN	HP:0002589	Gastrointestinal atresia	HP:0040281	ORPHA:391641
4613	MYCN	HP:0002575	Tracheoesophageal fistula	-	OMIM:164280
4613	MYCN	HP:0002515	Waddling gait	54/102	OMIM:131300
4613	MYCN	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:391641
4613	MYCN	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:391641
4613	MYCN	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:391641
4613	MYCN	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:391641
4613	MYCN	HP:0001382	Joint hypermobility	-	OMIM:615777
4613	MYCN	HP:0001355	Megalencephaly	3/3	OMIM:620748
4613	MYCN	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4613	MYCN	HP:0008897	Postnatal growth retardation	1/2	OMIM:620748
4613	MYCN	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4613	MYCN	HP:0001328	Specific learning disability	-	OMIM:164280
4613	MYCN	HP:0001328	Specific learning disability	HP:0040282	ORPHA:391641
4613	MYCN	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4613	MYCN	HP:0001324	Muscle weakness	40/96	OMIM:131300
4613	MYCN	HP:0032407	Bilateral perisylvian polymicrogyria	0/3	OMIM:620748
4613	MYCN	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4613	MYCN	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4613	MYCN	HP:0000006	Autosomal dominant inheritance	-	OMIM:164280
4613	MYCN	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4613	MYCN	HP:0000006	Autosomal dominant inheritance	-	OMIM:620748
4613	MYCN	HP:0001336	Myoclonus	HP:0040284	ORPHA:635
4613	MYCN	HP:0002653	Bone pain	HP:0040283	ORPHA:635
4613	MYCN	HP:0002650	Scoliosis	12/14	OMIM:131300
4613	MYCN	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4613	MYCN	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4613	MYCN	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4613	MYCN	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4613	MYCN	HP:0000175	Cleft palate	2/7	OMIM:615777
4613	MYCN	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:635
4613	MYCN	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:635
4613	MYCN	HP:0000123	Nephritis	HP:0040283	ORPHA:391641
4613	MYCN	HP:0002779	Tracheomalacia	1/3	OMIM:620748
4613	MYCN	HP:0000126	Hydronephrosis	1/1	OMIM:620748
4613	MYCN	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:391641
4613	MYCN	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:635
4613	MYCN	HP:0000110	Renal dysplasia	HP:0040283	ORPHA:391641
4613	MYCN	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:635
4613	MYCN	HP:0002023	Anal atresia	HP:0040284	ORPHA:391641
4613	MYCN	HP:0002032	Esophageal atresia	HP:0040282	ORPHA:391641
4613	MYCN	HP:0002032	Esophageal atresia	25/77	OMIM:164280
4613	MYCN	HP:0004692	4-5 toe syndactyly	HP:0040282	ORPHA:391641
4613	MYCN	HP:0004692	4-5 toe syndactyly	58/77	OMIM:164280
4613	MYCN	HP:0004691	2-3 toe syndactyly	57/77	OMIM:164280
4613	MYCN	HP:0004691	2-3 toe syndactyly	HP:0040282	ORPHA:391641
4613	MYCN	HP:0002028	Chronic diarrhea	HP:0040282	ORPHA:635
4613	MYCN	HP:0003334	Elevated circulating catecholamine level	HP:0040282	ORPHA:635
4613	MYCN	HP:0002098	Respiratory distress	1/1	OMIM:620748
4613	MYCN	HP:0002098	Respiratory distress	HP:0040283	ORPHA:635
4613	MYCN	HP:0002079	Hypoplasia of the corpus callosum	2/3	OMIM:620748
4613	MYCN	HP:0003388	Easy fatigability	36/76	OMIM:131300
4613	MYCN	HP:0010446	Tricuspid stenosis	1/77	OMIM:164280
4613	MYCN	HP:0010446	Tricuspid stenosis	HP:0040283	ORPHA:391641
4613	MYCN	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4613	MYCN	HP:0002119	Ventriculomegaly	3/3	OMIM:620748
4613	MYCN	HP:0002197	Generalized-onset seizure	1/3	OMIM:620748
4613	MYCN	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:635
4613	MYCN	HP:0009577	Short middle phalanx of the 2nd finger	HP:0040282	ORPHA:391641
4613	MYCN	HP:0010543	Opsoclonus	HP:0040284	ORPHA:635
4613	MYCN	HP:0002277	Horner syndrome	HP:0040283	ORPHA:635
4613	MYCN	HP:0002245	Meckel diverticulum	1/1	OMIM:620748
4613	MYCN	HP:0003577	Congenital onset	77/77	OMIM:164280
4613	MYCN	HP:0003577	Congenital onset	3/3	OMIM:620748
4613	MYCN	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:391641
4613	MYCN	HP:0002247	Duodenal atresia	24/77	OMIM:164280
4613	MYCN	HP:0011976	Elevated urinary catecholamine level	HP:0040281	ORPHA:635
4613	MYCN	HP:0011977	Elevated urinary homovanillic acid	HP:0040283	ORPHA:635
4613	MYCN	HP:0011978	Elevated urinary vanillylmandelic acid	HP:0040283	ORPHA:635
4613	MYCN	HP:0003510	Severe short stature	7/7	OMIM:615777
4613	MYCN	HP:0001017	Anemic pallor	HP:0040283	ORPHA:635
4613	MYCN	HP:0002315	Headache	-	OMIM:131300
4613	MYCN	HP:0004976	Knee dislocation	6/7	OMIM:615777
4613	MYCN	HP:0009803	Short phalanx of finger	-	OMIM:615777
4613	MYCN	HP:0009778	Short thumb	13/77	OMIM:164280
4613	MYCN	HP:0009778	Short thumb	HP:0040282	ORPHA:391641
4613	MYCN	HP:0009763	Limb pain	63/92	OMIM:131300
4613	MYCN	HP:0003621	Juvenile onset	-	OMIM:131300
4613	MYCN	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4613	MYCN	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:391641
4613	MYCN	HP:0004220	Short middle phalanx of the 5th finger	HP:0040282	ORPHA:391641
4613	MYCN	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4613	MYCN	HP:6001056	Out-toeing	-	OMIM:131300
4613	MYCN	HP:0000651	Diplopia	-	OMIM:131300
4613	MYCN	HP:0001945	Fever	HP:0040282	ORPHA:635
4613	MYCN	HP:0001956	Truncal obesity	2/7	OMIM:615777
4613	MYCN	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:635
4613	MYCN	HP:0001903	Anemia	HP:0040282	ORPHA:635
4613	MYCN	HP:0001903	Anemia	HP:0040283	OMIM:131300
4613	MYCN	HP:0010049	Short metacarpal	-	OMIM:615777
4613	MYCN	HP:0000678	Dental crowding	-	OMIM:615777
4613	MYCN	HP:0000670	Carious teeth	-	OMIM:131300
4613	MYCN	HP:0011304	Broad thumb	2/7	OMIM:615777
4613	MYCN	HP:0000668	Hypodontia	-	OMIM:615777
4613	MYCN	HP:0001999	Abnormal facial shape	2/2	OMIM:620748
4613	MYCN	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:391641
4613	MYCN	HP:0000664	Synophrys	-	OMIM:615777
4613	MYCN	HP:0004322	Short stature	HP:0040284	ORPHA:391641
4613	MYCN	HP:0031955	Antalgic gait	HP:0040283	ORPHA:635
4613	MYCN	HP:0004396	Poor appetite	-	OMIM:131300
4613	MYCN	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4613	MYCN	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4613	MYCN	HP:0004375	Neoplasm of the nervous system	HP:0040281	ORPHA:635
4613	MYCN	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4613	MYCN	HP:0003006	Neuroblastoma	2/2	OMIM:620748
4613	MYCN	HP:0003006	Neuroblastoma	HP:0040281	ORPHA:635
4613	MYCN	HP:0003026	Short long bone	7/7	OMIM:615777
4613	MYCN	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4613	MYCN	HP:0012745	Short palpebral fissure	56/77	OMIM:164280
4613	MYCN	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:391641
4613	MYCN	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4613	MYCN	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4613	MYCN	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4613	MYCN	HP:0000737	Irritability	HP:0040283	ORPHA:635
4613	MYCN	HP:0000750	Delayed speech and language development	-	OMIM:615777
4613	MYCN	HP:0011461	Fetal onset	7/7	OMIM:615777
4613	MYCN	HP:0000774	Narrow chest	2/7	OMIM:615777
4613	MYCN	HP:0009110	Diaphragmatic eventration	1/1	OMIM:620748
4613	MYCN	HP:0003196	Short nose	1/1	OMIM:620748
4613	MYCN	HP:0000926	Platyspondyly	1/7	OMIM:615777
4613	MYCN	HP:0003180	Flat acetabular roof	-	OMIM:615777
4613	MYCN	HP:0004482	Relative macrocephaly	-	OMIM:615777
4613	MYCN	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4613	MYCN	HP:0012810	Wide nasal base	1/1	OMIM:620748
4613	MYCN	HP:0000822	Hypertension	HP:0040284	ORPHA:635
4613	MYCN	HP:0000823	Delayed puberty	-	OMIM:131300
4613	MYCN	HP:0000894	Short clavicles	-	OMIM:615777
4613	MYCN	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4613	MYCN	HP:0003270	Abdominal distention	HP:0040282	ORPHA:635
4613	MYCN	HP:0003281	Increased circulating ferritin concentration	HP:0040283	ORPHA:635
4613	MYCN	HP:0011662	Tricuspid atresia	1/77	OMIM:164280
4613	MYCN	HP:0011662	Tricuspid atresia	HP:0040283	ORPHA:391641
4613	MYCN	HP:0100259	Postaxial polydactyly	3/3	OMIM:620748
4613	MYCN	HP:0011625	Multiple muscular ventricular septal defects	HP:0040283	ORPHA:391641
4613	MYCN	HP:0011611	Interrupted aortic arch	HP:0040283	ORPHA:391641
4613	MYCN	HP:0011611	Interrupted aortic arch	1/77	OMIM:164280
4613	MYCN	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4613	MYCN	HP:0045025	Narrow palpebral fissure	-	OMIM:164280
4613	MYCN	HP:0005819	Short middle phalanx of finger	HP:0040281	ORPHA:391641
4613	MYCN	HP:0005819	Short middle phalanx of finger	0/3	OMIM:620748
4613	MYCN	HP:0005819	Short middle phalanx of finger	77/77	OMIM:164280
4613	MYCN	HP:0000286	Epicanthus	-	OMIM:164280
4613	MYCN	HP:0000286	Epicanthus	1/1	OMIM:620748
4613	MYCN	HP:0000286	Epicanthus	1/7	OMIM:615777
4613	MYCN	HP:0000280	Coarse facial features	2/7	OMIM:615777
4613	MYCN	HP:0000278	Retrognathia	1/1	OMIM:620748
4613	MYCN	HP:0025553	Periorbital ecchymosis with tarsal plate sparing	HP:0040284	ORPHA:635
4613	MYCN	HP:0000269	Prominent occiput	-	OMIM:164280
4613	MYCN	HP:0002827	Hip dislocation	3/7	OMIM:615777
4613	MYCN	HP:0000238	Hydrocephalus	0/3	OMIM:620748
4613	MYCN	HP:0000237	Small anterior fontanelle	-	OMIM:164280
4613	MYCN	HP:0000252	Microcephaly	-	OMIM:164280
4613	MYCN	HP:0000252	Microcephaly	HP:0040281	ORPHA:391641
4613	MYCN	HP:0000252	Microcephaly	-	OMIM:615777
4613	MYCN	HP:0000218	High palate	-	OMIM:164280
4613	MYCN	HP:0000218	High palate	1/1	OMIM:620748
4613	MYCN	HP:0001561	Polyhydramnios	-	OMIM:164280
4613	MYCN	HP:0000232	Everted lower lip vermilion	-	OMIM:164280
4613	MYCN	HP:0001558	Decreased fetal movement	-	OMIM:164280
4613	MYCN	HP:0002857	Genu valgum	-	OMIM:131300
4613	MYCN	HP:0001533	Slender build	-	OMIM:131300
4613	MYCN	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4613	MYCN	HP:0007807	Optic nerve compression	-	OMIM:131300
4613	MYCN	HP:0031500	Abdominal mass	HP:0040282	ORPHA:635
4613	MYCN	HP:0012378	Fatigue	HP:0040282	ORPHA:635
4613	MYCN	HP:0012368	Flat face	7/7	OMIM:615777
4613	MYCN	HP:0005235	Jejunal atresia	HP:0040284	ORPHA:391641
4613	MYCN	HP:0005235	Jejunal atresia	2/77	OMIM:164280
4613	MYCN	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4613	MYCN	HP:0001605	Vocal cord paralysis	-	OMIM:164280
4613	MYCN	HP:0000365	Hearing impairment	8/77	OMIM:164280
4613	MYCN	HP:0000365	Hearing impairment	10/67	OMIM:131300
4613	MYCN	HP:0000358	Posteriorly rotated ears	1/2	OMIM:620748
4613	MYCN	HP:0000358	Posteriorly rotated ears	-	OMIM:164280
4613	MYCN	HP:0000369	Low-set ears	-	OMIM:164280
4613	MYCN	HP:0000369	Low-set ears	1/2	OMIM:620748
4613	MYCN	HP:0000343	Long philtrum	1/1	OMIM:620748
4613	MYCN	HP:0000343	Long philtrum	1/7	OMIM:615777
4613	MYCN	HP:0011001	Increased bone mineral density	-	OMIM:131300
4613	MYCN	HP:0000347	Micrognathia	25/77	OMIM:164280
4613	MYCN	HP:0000347	Micrognathia	HP:0040282	ORPHA:391641
4613	MYCN	HP:0000321	Square face	1/1	OMIM:620748
4613	MYCN	HP:0000316	Hypertelorism	2/2	OMIM:620748
4613	MYCN	HP:0001643	Patent ductus arteriosus	9/77	OMIM:164280
4613	MYCN	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:391641
4613	MYCN	HP:0000311	Round face	2/7	OMIM:615777
4613	MYCN	HP:0000325	Triangular face	-	OMIM:164280
4613	MYCN	HP:0000324	Facial asymmetry	-	OMIM:164280
4613	MYCN	HP:0001629	Ventricular septal defect	1/2	OMIM:620748
4613	MYCN	HP:0001629	Ventricular septal defect	2/77	OMIM:164280
4613	MYCN	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:391641
4613	MYCN	HP:0002970	Genu varum	-	OMIM:615777
4613	MYCN	HP:0000303	Mandibular prognathia	-	OMIM:131300
4613	MYCN	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:391641
4613	MYCN	HP:0001734	Annular pancreas	-	OMIM:164280
4613	MYCN	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:391641
4613	MYCN	HP:0005280	Depressed nasal bridge	1/1	OMIM:620748
4613	MYCN	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4613	MYCN	HP:0012471	Thick vermilion border	-	OMIM:164280
4613	MYCN	HP:0000463	Anteverted nares	2/2	OMIM:620748
4613	MYCN	HP:0000463	Anteverted nares	-	OMIM:164280
4613	MYCN	HP:0000470	Short neck	1/7	OMIM:615777
4613	MYCN	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:391641
4613	MYCN	HP:0001770	Toe syndactyly	0/3	OMIM:620748
4613	MYCN	HP:0000437	Depressed nasal tip	-	OMIM:164280
4613	MYCN	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4613	MYCN	HP:0001763	Pes planus	1/7	OMIM:615777
4613	MYCN	HP:0001746	Asplenia	-	OMIM:164280
4613	MYCN	HP:0001748	Polysplenia	-	OMIM:164280
4613	MYCN	HP:0001747	Accessory spleen	-	OMIM:164280
4613	MYCN	HP:0000431	Wide nasal bridge	1/1	OMIM:620748
4613	MYCN	HP:0000431	Wide nasal bridge	-	OMIM:164280
4613	MYCN	HP:0001840	Metatarsus adductus	-	OMIM:615777
4613	MYCN	HP:0000520	Proptosis	2/4	OMIM:131300
4613	MYCN	HP:0000520	Proptosis	7/7	OMIM:615777
4613	MYCN	HP:0000520	Proptosis	HP:0040283	ORPHA:635
4613	MYCN	HP:0001824	Weight loss	HP:0040282	ORPHA:635
4613	MYCN	HP:0001831	Short toe	-	OMIM:164280
4613	MYCN	HP:0000582	Upslanted palpebral fissure	-	OMIM:164280
4613	MYCN	HP:0000581	Blepharophimosis	-	OMIM:164280
4613	MYCN	HP:0000592	Blue sclerae	2/7	OMIM:615777
4613	MYCN	HP:0011230	Laterally extended eyebrow	1/1	OMIM:620748
4613	MYCN	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:635
4613	MYCN	HP:0011220	Prominent forehead	1/1	OMIM:620748
4613	MYCN	HP:0000574	Thick eyebrow	1/1	OMIM:620748
4613	MYCN	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4613	MYCN	HP:0012514	Lower limb pain	4/4	OMIM:131300
4613	MYCN	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:635
4615	MYD88	HP:0001297	Stroke	HP:0040283	ORPHA:33226
4615	MYD88	HP:0100806	Sepsis	1/9	OMIM:612260
4615	MYD88	HP:0001271	Polyneuropathy	-	OMIM:153600
4615	MYD88	HP:0001251	Ataxia	HP:0040283	ORPHA:33226
4615	MYD88	HP:0010976	Decreased total B cell count	1/8	OMIM:612260
4615	MYD88	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:33226
4615	MYD88	HP:0007499	Recurrent staphylococcal infections	HP:0040281	ORPHA:70592
4615	MYD88	HP:0000007	Autosomal recessive inheritance	-	OMIM:612260
4615	MYD88	HP:0002665	Lymphoma	HP:0040281	ORPHA:33226
4615	MYD88	HP:0002665	Lymphoma	HP:0040283	OMIM:153600
4615	MYD88	HP:0002633	Vasculitis	HP:0040283	ORPHA:33226
4615	MYD88	HP:0032434	Delayed umbilical cord separation	1/1	OMIM:612260
4615	MYD88	HP:0001442	Typified by somatic mosaicism	-	OMIM:153600
4615	MYD88	HP:0002719	Recurrent infections	HP:0040283	ORPHA:33226
4615	MYD88	HP:0002718	Recurrent bacterial infections	HP:0040281	ORPHA:70592
4615	MYD88	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:33226
4615	MYD88	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:70592
4615	MYD88	HP:0002024	Malabsorption	HP:0040283	ORPHA:33226
4615	MYD88	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	-	OMIM:153600
4615	MYD88	HP:0002014	Diarrhea	HP:0040283	ORPHA:33226
4615	MYD88	HP:0100539	Periorbital edema	HP:0040283	ORPHA:33226
4615	MYD88	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:33226
4615	MYD88	HP:0002076	Migraine	HP:0040283	ORPHA:33226
4615	MYD88	HP:0002039	Anorexia	HP:0040283	ORPHA:33226
4615	MYD88	HP:0003459	Polyclonal elevation of IgM	-	OMIM:153600
4615	MYD88	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:33226
4615	MYD88	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:33226
4615	MYD88	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:33226
4615	MYD88	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040283	ORPHA:33226
4615	MYD88	HP:0002202	Pleural effusion	HP:0040283	ORPHA:33226
4615	MYD88	HP:0100778	Cryoglobulinemia	HP:0040283	ORPHA:33226
4615	MYD88	HP:0100724	Hypercoagulability	HP:0040282	ORPHA:33226
4615	MYD88	HP:0001025	Urticaria	HP:0040283	ORPHA:33226
4615	MYD88	HP:0002354	Memory impairment	HP:0040283	ORPHA:33226
4615	MYD88	HP:0002321	Vertigo	HP:0040282	ORPHA:33226
4615	MYD88	HP:0010841	Multifocal epileptiform discharges	HP:0040283	ORPHA:33226
4615	MYD88	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:33226
4615	MYD88	HP:0010741	Pedal edema	HP:0040283	ORPHA:33226
4615	MYD88	HP:0005508	Monoclonal immunoglobulin M proteinemia	HP:0040281	ORPHA:33226
4615	MYD88	HP:0005508	Monoclonal immunoglobulin M proteinemia	-	OMIM:153600
4615	MYD88	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:33226
4615	MYD88	HP:0001945	Fever	HP:0040283	ORPHA:33226
4615	MYD88	HP:0001945	Fever	HP:0040283	ORPHA:70592
4615	MYD88	HP:0001909	Leukemia	HP:0040281	ORPHA:33226
4615	MYD88	HP:0001909	Leukemia	HP:0040283	OMIM:153600
4615	MYD88	HP:0006946	Recurrent meningitis	5/9	OMIM:612260
4615	MYD88	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:33226
4615	MYD88	HP:0003095	Septic arthritis	1/9	OMIM:612260
4615	MYD88	HP:0040089	Abnormal total natural killer cell count	0/7	OMIM:612260
4615	MYD88	HP:0000980	Pallor	HP:0040282	ORPHA:33226
4615	MYD88	HP:0000979	Purpura	HP:0040283	ORPHA:33226
4615	MYD88	HP:0000965	Cutis marmorata	HP:0040283	ORPHA:33226
4615	MYD88	HP:0008046	Abnormal retinal vascular morphology	HP:0040283	ORPHA:33226
4615	MYD88	HP:0001581	Recurrent skin infections	2/9	OMIM:612260
4615	MYD88	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:33226
4615	MYD88	HP:0002840	Lymphadenitis	-	OMIM:612260
4615	MYD88	HP:0012378	Fatigue	HP:0040283	ORPHA:33226
4615	MYD88	HP:0000365	Hearing impairment	HP:0040283	ORPHA:33226
4615	MYD88	HP:0025615	Abscess	4/9	OMIM:612260
4615	MYD88	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:33226
4615	MYD88	HP:0005366	Recurrent streptococcus pneumoniae infections	HP:0040281	ORPHA:70592
4615	MYD88	HP:0001744	Splenomegaly	HP:0040283	ORPHA:33226
4615	MYD88	HP:0000421	Epistaxis	HP:0040283	ORPHA:33226
4615	MYD88	HP:0005406	Recurrent bacterial skin infections	HP:0040282	ORPHA:70592
4615	MYD88	HP:0005403	Decreased total T cell count	0/7	OMIM:612260
4615	MYD88	HP:0000520	Proptosis	HP:0040283	ORPHA:33226
4615	MYD88	HP:0000573	Retinal hemorrhage	HP:0040283	ORPHA:33226
4615	MYD88	HP:0001897	Normocytic anemia	HP:0040282	ORPHA:33226
4615	MYD88	HP:0001874	Abnormality of neutrophils	HP:0040282	ORPHA:33226
4615	MYD88	HP:0001875	Decreased total neutrophil count	HP:0040281	ORPHA:70592
4617	MYF5	HP:0000007	Autosomal recessive inheritance	-	OMIM:618155
4617	MYF5	HP:0002650	Scoliosis	4/4	OMIM:618155
4617	MYF5	HP:0003577	Congenital onset	5/5	OMIM:618155
4617	MYF5	HP:0000767	Pectus excavatum	-	OMIM:618155
4617	MYF5	HP:0000768	Pectus carinatum	1/5	OMIM:618155
4617	MYF5	HP:0000773	Short ribs	3/3	OMIM:618155
4617	MYF5	HP:0000921	Missing ribs	1/3	OMIM:618155
4617	MYF5	HP:0005864	Pseudoarthrosis	1/5	OMIM:618155
4617	MYF5	HP:0025584	Hypotropia	3/5	OMIM:618155
4617	MYF5	HP:0012366	Basilar invagination	2/5	OMIM:618155
4617	MYF5	HP:0000473	Torticollis	4/4	OMIM:618155
4617	MYF5	HP:0000508	Ptosis	4/5	OMIM:618155
4617	MYF5	HP:0000577	Exotropia	4/5	OMIM:618155
4617	MYF5	HP:0000544	External ophthalmoplegia	5/5	OMIM:618155
4618	MYF6	HP:0003738	Exercise-induced myalgia	HP:0040283	ORPHA:169189
4618	MYF6	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:169189
4618	MYF6	HP:0001288	Gait disturbance	HP:0040282	ORPHA:169189
4618	MYF6	HP:0002522	Areflexia of lower limbs	HP:0040283	ORPHA:169189
4618	MYF6	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:169189
4618	MYF6	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:169189
4618	MYF6	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:169189
4618	MYF6	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:169189
4618	MYF6	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040282	ORPHA:169189
4618	MYF6	HP:0008981	Calf muscle hypertrophy	HP:0040283	ORPHA:169189
4618	MYF6	HP:0001436	Abnormality of the foot musculature	HP:0040282	ORPHA:169189
4618	MYF6	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:169189
4618	MYF6	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:169189
4618	MYF6	HP:0002047	Malignant hyperthermia	HP:0040284	ORPHA:169189
4618	MYF6	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:169189
4618	MYF6	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:169189
4618	MYF6	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:169189
4618	MYF6	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:169189
4618	MYF6	HP:0010546	Muscle fibrillation	HP:0040282	ORPHA:169189
4618	MYF6	HP:0001048	Cavernous hemangioma	HP:0040283	ORPHA:169189
4618	MYF6	HP:0003687	Centrally nucleated skeletal muscle fibers	HP:0040281	ORPHA:169189
4618	MYF6	HP:0012768	Neonatal asphyxia	HP:0040283	ORPHA:169189
4618	MYF6	HP:0004488	Macrocephaly at birth	HP:0040282	ORPHA:169189
4618	MYF6	HP:0000883	Thin ribs	HP:0040282	ORPHA:169189
4618	MYF6	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:169189
4618	MYF6	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:169189
4618	MYF6	HP:0001520	Large for gestational age	HP:0040282	ORPHA:169189
4618	MYF6	HP:0005268	Miscarriage	HP:0040282	ORPHA:169189
4618	MYF6	HP:0000508	Ptosis	HP:0040282	ORPHA:169189
4618	MYF6	HP:0000544	External ophthalmoplegia	HP:0040283	ORPHA:169189
4620	MYH2	HP:0002460	Distal muscle weakness	HP:0040283	OMIM:605637
4620	MYH2	HP:0003701	Proximal muscle weakness	-	OMIM:605637
4620	MYH2	HP:0001290	Generalized hypotonia	1/1	OMIM:605637
4620	MYH2	HP:0002515	Waddling gait	1/1	OMIM:605637
4620	MYH2	HP:0003803	Type 1 muscle fiber predominance	1/1	OMIM:605637
4620	MYH2	HP:0000007	Autosomal recessive inheritance	-	OMIM:605637
4620	MYH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:605637
4620	MYH2	HP:0002650	Scoliosis	1/1	OMIM:605637
4620	MYH2	HP:0002015	Dysphagia	1/1	OMIM:605637
4620	MYH2	HP:0003324	Generalized muscle weakness	-	OMIM:605637
4620	MYH2	HP:0002058	Myopathic facies	1/1	OMIM:605637
4620	MYH2	HP:0003577	Congenital onset	1/1	OMIM:605637
4620	MYH2	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:605637
4620	MYH2	HP:0003691	Scapular winging	HP:0040283	OMIM:605637
4620	MYH2	HP:0000602	Ophthalmoplegia	1/1	OMIM:605637
4620	MYH2	HP:0003198	Myopathy	1/1	OMIM:605637
4620	MYH2	HP:0100299	Muscle fiber inclusion bodies	-	OMIM:605637
4620	MYH2	HP:0002803	Congenital contracture	-	OMIM:605637
4620	MYH2	HP:0000218	High palate	1/1	OMIM:605637
4620	MYH2	HP:0000467	Neck muscle weakness	-	OMIM:605637
4620	MYH2	HP:0000508	Ptosis	1/1	OMIM:605637
4621	MYH3	HP:0001181	Adducted thumb	3/3	OMIM:618436
4621	MYH3	HP:0001181	Adducted thumb	-	OMIM:193700
4621	MYH3	HP:0001181	Adducted thumb	HP:0040281	ORPHA:1147
4621	MYH3	HP:0001181	Adducted thumb	HP:0040281	ORPHA:1146
4621	MYH3	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	-	OMIM:193700
4621	MYH3	HP:0003764	Nevus	HP:0040283	ORPHA:2990
4621	MYH3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4621	MYH3	HP:0001293	Cranial nerve compression	-	OMIM:131300
4621	MYH3	HP:0001272	Cerebellar atrophy	-	OMIM:193700
4621	MYH3	HP:0001270	Motor delay	28/28	OMIM:193700
4621	MYH3	HP:0001288	Gait disturbance	HP:0040283	ORPHA:2990
4621	MYH3	HP:0100830	Round ear	HP:0040282	ORPHA:1147
4621	MYH3	HP:0001250	Seizure	-	OMIM:193700
4621	MYH3	HP:0001252	Hypotonia	2/7	OMIM:615777
4621	MYH3	HP:0001249	Intellectual disability	5/7	OMIM:615777
4621	MYH3	HP:0001263	Global developmental delay	-	OMIM:615777
4621	MYH3	HP:0001239	Wrist flexion contracture	23/27	OMIM:193700
4621	MYH3	HP:0006109	Absent phalangeal crease	6/9	OMIM:618469
4621	MYH3	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:2990
4621	MYH3	HP:0008729	Absence of labia majora	HP:0040283	ORPHA:2990
4621	MYH3	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:2990
4621	MYH3	HP:0001216	Delayed ossification of carpal bones	HP:0040283	ORPHA:3275
4621	MYH3	HP:0002515	Waddling gait	54/102	OMIM:131300
4621	MYH3	HP:0000046	Small scrotum	HP:0040283	ORPHA:2990
4621	MYH3	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:2990
4621	MYH3	HP:0001371	Flexion contracture	10/10	OMIM:618469
4621	MYH3	HP:0001373	Joint dislocation	3/26	OMIM:193700
4621	MYH3	HP:0000041	Chordee	1/1	OMIM:193700
4621	MYH3	HP:0001387	Joint stiffness	HP:0040281	ORPHA:2053
4621	MYH3	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1147
4621	MYH3	HP:0001387	Joint stiffness	HP:0040282	ORPHA:1146
4621	MYH3	HP:0001382	Joint hypermobility	-	OMIM:615777
4621	MYH3	HP:0000047	Hypospadias	0/1	OMIM:193700
4621	MYH3	HP:0000023	Inguinal hernia	1/7	OMIM:178110
4621	MYH3	HP:0000023	Inguinal hernia	-	OMIM:193700
4621	MYH3	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2990
4621	MYH3	HP:0001363	Craniosynostosis	2/7	OMIM:178110
4621	MYH3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4621	MYH3	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2990
4621	MYH3	HP:0000028	Cryptorchidism	5/12	OMIM:193700
4621	MYH3	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:2053
4621	MYH3	HP:0008897	Postnatal growth retardation	-	OMIM:193700
4621	MYH3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4621	MYH3	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:2053
4621	MYH3	HP:0008872	Feeding difficulties in infancy	HP:0040281	OMIM:193700
4621	MYH3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4621	MYH3	HP:0001324	Muscle weakness	-	OMIM:193700
4621	MYH3	HP:0001324	Muscle weakness	40/96	OMIM:131300
4621	MYH3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4621	MYH3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4621	MYH3	HP:0000007	Autosomal recessive inheritance	-	OMIM:618469
4621	MYH3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4621	MYH3	HP:0000006	Autosomal dominant inheritance	-	OMIM:618436
4621	MYH3	HP:0000006	Autosomal dominant inheritance	-	OMIM:178110
4621	MYH3	HP:0000006	Autosomal dominant inheritance	-	OMIM:193700
4621	MYH3	HP:0002650	Scoliosis	HP:0040281	ORPHA:2990
4621	MYH3	HP:0002650	Scoliosis	-	OMIM:618436
4621	MYH3	HP:0002650	Scoliosis	7/10	OMIM:178110
4621	MYH3	HP:0002650	Scoliosis	10/10	OMIM:618469
4621	MYH3	HP:0002650	Scoliosis	22/26	OMIM:193700
4621	MYH3	HP:0002650	Scoliosis	HP:0040282	ORPHA:3275
4621	MYH3	HP:0002650	Scoliosis	HP:0040281	ORPHA:2053
4621	MYH3	HP:0002650	Scoliosis	12/14	OMIM:131300
4621	MYH3	HP:0002650	Scoliosis	HP:0040281	ORPHA:1147
4621	MYH3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4621	MYH3	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:2990
4621	MYH3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4621	MYH3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4621	MYH3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4621	MYH3	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:2053
4621	MYH3	HP:0000160	Narrow mouth	HP:0040281	ORPHA:2053
4621	MYH3	HP:0000160	Narrow mouth	3/3	OMIM:618436
4621	MYH3	HP:0000160	Narrow mouth	HP:0040283	ORPHA:1146
4621	MYH3	HP:0000160	Narrow mouth	1/1	OMIM:193700
4621	MYH3	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:2990
4621	MYH3	HP:0000175	Cleft palate	1/7	OMIM:178110
4621	MYH3	HP:0000175	Cleft palate	1/10	OMIM:618469
4621	MYH3	HP:0000175	Cleft palate	HP:0040283	ORPHA:3275
4621	MYH3	HP:0000175	Cleft palate	2/7	OMIM:615777
4621	MYH3	HP:0000175	Cleft palate	HP:0040283	ORPHA:2990
4621	MYH3	HP:0000135	Hypogonadism	HP:0040282	ORPHA:2990
4621	MYH3	HP:0006297	Enamel hypoplasia	HP:0040282	ORPHA:3275
4621	MYH3	HP:0007598	Bilateral single transverse palmar creases	HP:0040281	ORPHA:1147
4621	MYH3	HP:0002757	Recurrent fractures	6/23	OMIM:193700
4621	MYH3	HP:0002751	Kyphoscoliosis	-	OMIM:193700
4621	MYH3	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:3275
4621	MYH3	HP:0005997	Neck joint contracture	24/27	OMIM:193700
4621	MYH3	HP:0002007	Frontal bossing	HP:0040283	ORPHA:3275
4621	MYH3	HP:0003302	Spondylolisthesis	1/7	OMIM:178110
4621	MYH3	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:2990
4621	MYH3	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2990
4621	MYH3	HP:0002047	Malignant hyperthermia	HP:0040282	ORPHA:2053
4621	MYH3	HP:0002047	Malignant hyperthermia	3/19	OMIM:193700
4621	MYH3	HP:0003388	Easy fatigability	36/76	OMIM:131300
4621	MYH3	HP:0009465	Ulnar deviation of finger	HP:0040281	ORPHA:2053
4621	MYH3	HP:0009465	Ulnar deviation of finger	HP:0040282	ORPHA:1147
4621	MYH3	HP:0009465	Ulnar deviation of finger	HP:0040282	ORPHA:1146
4621	MYH3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4621	MYH3	HP:0033142	Long nasal bridge	7/9	OMIM:178110
4621	MYH3	HP:0010489	Absent palmar crease	HP:0040283	ORPHA:2053
4621	MYH3	HP:0009487	Ulnar deviation of the hand	3/3	OMIM:618436
4621	MYH3	HP:0009473	Joint contracture of the hand	-	OMIM:193700
4621	MYH3	HP:0003422	Vertebral segmentation defect	HP:0040282	ORPHA:1147
4621	MYH3	HP:0003422	Vertebral segmentation defect	HP:0040282	ORPHA:2990
4621	MYH3	HP:0003498	Disproportionate short stature	HP:0040282	ORPHA:3275
4621	MYH3	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:2053
4621	MYH3	HP:0002162	Low posterior hairline	HP:0040283	ORPHA:2990
4621	MYH3	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:2053
4621	MYH3	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:1146
4621	MYH3	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:2990
4621	MYH3	HP:0010554	Cutaneous finger syndactyly	1/7	OMIM:178110
4621	MYH3	HP:0010557	Overlapping fingers	HP:0040282	ORPHA:1147
4621	MYH3	HP:0010557	Overlapping fingers	HP:0040281	ORPHA:1146
4621	MYH3	HP:0010557	Overlapping fingers	-	OMIM:618436
4621	MYH3	HP:0011842	Abnormal skeletal morphology	HP:0040282	ORPHA:2990
4621	MYH3	HP:0011824	Chin with H-shaped crease	-	OMIM:193700
4621	MYH3	HP:0003593	Infantile onset	1/1	OMIM:193700
4621	MYH3	HP:0003577	Congenital onset	7/7	OMIM:178110
4621	MYH3	HP:0003577	Congenital onset	1/1	OMIM:193700
4621	MYH3	HP:0002205	Recurrent respiratory infections	9/27	OMIM:193700
4621	MYH3	HP:0100790	Hernia	HP:0040283	ORPHA:2053
4621	MYH3	HP:0100790	Hernia	6/26	OMIM:193700
4621	MYH3	HP:0009702	Carpal synostosis	-	OMIM:178110
4621	MYH3	HP:0009702	Carpal synostosis	HP:0040282	ORPHA:3275
4621	MYH3	HP:0008368	Tarsal synostosis	-	OMIM:178110
4621	MYH3	HP:0008368	Tarsal synostosis	HP:0040282	ORPHA:1147
4621	MYH3	HP:0008368	Tarsal synostosis	6/8	OMIM:618469
4621	MYH3	HP:0008368	Tarsal synostosis	HP:0040282	ORPHA:3275
4621	MYH3	HP:0003510	Severe short stature	7/7	OMIM:615777
4621	MYH3	HP:0001060	Axillary pterygium	HP:0040281	ORPHA:2990
4621	MYH3	HP:0001059	Pterygium	HP:0040283	ORPHA:2990
4621	MYH3	HP:0002365	Hypoplasia of the brainstem	-	OMIM:193700
4621	MYH3	HP:0001040	Multiple pterygia	-	OMIM:178110
4621	MYH3	HP:0001040	Multiple pterygia	HP:0040281	ORPHA:2990
4621	MYH3	HP:0002315	Headache	-	OMIM:131300
4621	MYH3	HP:0004976	Knee dislocation	6/7	OMIM:615777
4621	MYH3	HP:0009803	Short phalanx of finger	-	OMIM:615777
4621	MYH3	HP:0010751	Dimple chin	HP:0040281	ORPHA:2053
4621	MYH3	HP:0010751	Dimple chin	-	OMIM:193700
4621	MYH3	HP:0009773	Symphalangism affecting the phalanges of the hand	HP:0040281	ORPHA:2990
4621	MYH3	HP:0008445	Cervical spinal canal stenosis	1/7	OMIM:178110
4621	MYH3	HP:0009760	Antecubital pterygium	2/9	OMIM:178110
4621	MYH3	HP:0009760	Antecubital pterygium	2/9	OMIM:618469
4621	MYH3	HP:0009760	Antecubital pterygium	HP:0040281	ORPHA:2990
4621	MYH3	HP:0009763	Limb pain	63/92	OMIM:131300
4621	MYH3	HP:0009756	Popliteal pterygium	5/9	OMIM:178110
4621	MYH3	HP:0009756	Popliteal pterygium	HP:0040281	ORPHA:2990
4621	MYH3	HP:0003621	Juvenile onset	-	OMIM:131300
4621	MYH3	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:2990
4621	MYH3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4621	MYH3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4621	MYH3	HP:6001056	Out-toeing	-	OMIM:131300
4621	MYH3	HP:0000651	Diplopia	-	OMIM:131300
4621	MYH3	HP:0001956	Truncal obesity	2/7	OMIM:615777
4621	MYH3	HP:0001903	Anemia	HP:0040283	OMIM:131300
4621	MYH3	HP:0010049	Short metacarpal	-	OMIM:615777
4621	MYH3	HP:0000678	Dental crowding	14/14	OMIM:193700
4621	MYH3	HP:0000678	Dental crowding	-	OMIM:615777
4621	MYH3	HP:0000670	Carious teeth	-	OMIM:131300
4621	MYH3	HP:0011304	Broad thumb	2/7	OMIM:615777
4621	MYH3	HP:0000668	Hypodontia	-	OMIM:615777
4621	MYH3	HP:0000664	Synophrys	-	OMIM:615777
4621	MYH3	HP:0004322	Short stature	HP:0040282	ORPHA:2053
4621	MYH3	HP:0004322	Short stature	HP:0040282	ORPHA:1147
4621	MYH3	HP:0004322	Short stature	HP:0040282	ORPHA:2990
4621	MYH3	HP:0004322	Short stature	-	OMIM:618436
4621	MYH3	HP:0004322	Short stature	8/9	OMIM:178110
4621	MYH3	HP:0006958	Abnormal auditory evoked potentials	-	OMIM:193700
4621	MYH3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2990
4621	MYH3	HP:0004396	Poor appetite	-	OMIM:131300
4621	MYH3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4621	MYH3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4621	MYH3	HP:0003049	Ulnar deviation of the wrist	HP:0040282	ORPHA:1147
4621	MYH3	HP:0003044	Shoulder flexion contracture	-	OMIM:193700
4621	MYH3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4621	MYH3	HP:0003026	Short long bone	7/7	OMIM:615777
4621	MYH3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4621	MYH3	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:2990
4621	MYH3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4621	MYH3	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:2990
4621	MYH3	HP:0000766	Abnormal sternum morphology	HP:0040281	ORPHA:2990
4621	MYH3	HP:0000768	Pectus carinatum	HP:0040284	OMIM:178110
4621	MYH3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4621	MYH3	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:3275
4621	MYH3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4621	MYH3	HP:0000750	Delayed speech and language development	-	OMIM:615777
4621	MYH3	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:2990
4621	MYH3	HP:0012785	Flexion contracture of finger	28/28	OMIM:193700
4621	MYH3	HP:0011461	Fetal onset	7/7	OMIM:615777
4621	MYH3	HP:0000774	Narrow chest	2/7	OMIM:615777
4621	MYH3	HP:0003196	Short nose	1/1	OMIM:193700
4621	MYH3	HP:0003191	Cleft ala nasi	1/2	OMIM:193700
4621	MYH3	HP:0000926	Platyspondyly	1/7	OMIM:615777
4621	MYH3	HP:0003180	Flat acetabular roof	-	OMIM:615777
4621	MYH3	HP:0000902	Rib fusion	HP:0040283	ORPHA:2990
4621	MYH3	HP:0004482	Relative macrocephaly	-	OMIM:615777
4621	MYH3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4621	MYH3	HP:0000823	Delayed puberty	-	OMIM:131300
4621	MYH3	HP:0000894	Short clavicles	-	OMIM:615777
4621	MYH3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4621	MYH3	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:2990
4621	MYH3	HP:0005830	Flexion contracture of toe	-	OMIM:193700
4621	MYH3	HP:0034391	Elbow contracture	6/9	OMIM:178110
4621	MYH3	HP:0003298	Spina bifida occulta	-	OMIM:193700
4621	MYH3	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:2990
4621	MYH3	HP:0003273	Hip contracture	2/4	OMIM:178110
4621	MYH3	HP:0003273	Hip contracture	15/26	OMIM:193700
4621	MYH3	HP:0003272	Abnormal hip bone morphology	HP:0040282	ORPHA:1147
4621	MYH3	HP:0003272	Abnormal hip bone morphology	HP:0040283	ORPHA:1146
4621	MYH3	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040282	ORPHA:2990
4621	MYH3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4621	MYH3	HP:0000951	Abnormality of the skin	-	OMIM:193700
4621	MYH3	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:2990
4621	MYH3	HP:0000286	Epicanthus	HP:0040282	ORPHA:2990
4621	MYH3	HP:0000286	Epicanthus	-	OMIM:193700
4621	MYH3	HP:0000286	Epicanthus	1/7	OMIM:615777
4621	MYH3	HP:0000280	Coarse facial features	2/7	OMIM:615777
4621	MYH3	HP:0000298	Mask-like facies	-	OMIM:193700
4621	MYH3	HP:0000275	Narrow face	HP:0040282	ORPHA:1147
4621	MYH3	HP:0000276	Long face	HP:0040282	ORPHA:2990
4621	MYH3	HP:0000272	Malar flattening	-	OMIM:193700
4621	MYH3	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:2990
4621	MYH3	HP:0002829	Arthralgia	2/11	OMIM:193700
4621	MYH3	HP:0002827	Hip dislocation	-	OMIM:193700
4621	MYH3	HP:0002827	Hip dislocation	3/7	OMIM:615777
4621	MYH3	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:178110
4621	MYH3	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:2990
4621	MYH3	HP:0006380	Knee flexion contracture	7/27	OMIM:193700
4621	MYH3	HP:0006380	Knee flexion contracture	7/10	OMIM:178110
4621	MYH3	HP:0000252	Microcephaly	HP:0040282	ORPHA:2990
4621	MYH3	HP:0000252	Microcephaly	HP:0040284	OMIM:178110
4621	MYH3	HP:0000252	Microcephaly	-	OMIM:193700
4621	MYH3	HP:0000252	Microcephaly	-	OMIM:615777
4621	MYH3	HP:0001552	Barrel-shaped chest	HP:0040284	OMIM:178110
4621	MYH3	HP:0000218	High palate	HP:0040282	ORPHA:2990
4621	MYH3	HP:0000218	High palate	-	OMIM:193700
4621	MYH3	HP:0000218	High palate	HP:0040282	ORPHA:1147
4621	MYH3	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:2053
4621	MYH3	HP:0001562	Oligohydramnios	2/17	OMIM:193700
4621	MYH3	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:2053
4621	MYH3	HP:0001561	Polyhydramnios	5/17	OMIM:193700
4621	MYH3	HP:0001558	Decreased fetal movement	9/17	OMIM:193700
4621	MYH3	HP:0001557	Prenatal movement abnormality	HP:0040282	ORPHA:2053
4621	MYH3	HP:0002857	Genu valgum	-	OMIM:131300
4621	MYH3	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:2990
4621	MYH3	HP:0000205	Pursed lips	1/1	OMIM:193700
4621	MYH3	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:2990
4621	MYH3	HP:0001533	Slender build	-	OMIM:131300
4621	MYH3	HP:0030039	Fused thoracic vertebrae	10/10	OMIM:618469
4621	MYH3	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2990
4621	MYH3	HP:0001508	Failure to thrive	-	OMIM:193700
4621	MYH3	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2053
4621	MYH3	HP:0001518	Small for gestational age	-	OMIM:193700
4621	MYH3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4621	MYH3	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2990
4621	MYH3	HP:0001510	Growth delay	HP:0040281	ORPHA:2053
4621	MYH3	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:1147
4621	MYH3	HP:0007807	Optic nerve compression	-	OMIM:131300
4621	MYH3	HP:0012385	Camptodactyly	3/3	OMIM:618436
4621	MYH3	HP:0012385	Camptodactyly	9/9	OMIM:178110
4621	MYH3	HP:0012385	Camptodactyly	2/2	OMIM:193700
4621	MYH3	HP:0012368	Flat face	1/1	OMIM:193700
4621	MYH3	HP:0012368	Flat face	7/7	OMIM:615777
4621	MYH3	HP:0002937	Hemivertebrae	-	OMIM:178110
4621	MYH3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4621	MYH3	HP:0002938	Lumbar hyperlordosis	HP:0040282	ORPHA:3275
4621	MYH3	HP:0002948	Vertebral fusion	5/8	OMIM:178110
4621	MYH3	HP:0002948	Vertebral fusion	HP:0040282	ORPHA:3275
4621	MYH3	HP:0002949	Fused cervical vertebrae	4/10	OMIM:618469
4621	MYH3	HP:0002945	Intervertebral space narrowing	HP:0040282	ORPHA:3275
4621	MYH3	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:2053
4621	MYH3	HP:0001611	Hypernasal speech	-	OMIM:193700
4621	MYH3	HP:0000365	Hearing impairment	HP:0040282	ORPHA:2990
4621	MYH3	HP:0000365	Hearing impairment	HP:0040284	OMIM:178110
4621	MYH3	HP:0000365	Hearing impairment	8/27	OMIM:193700
4621	MYH3	HP:0000365	Hearing impairment	HP:0040282	ORPHA:3275
4621	MYH3	HP:0000365	Hearing impairment	HP:0040282	ORPHA:2053
4621	MYH3	HP:0000365	Hearing impairment	10/67	OMIM:131300
4621	MYH3	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:2990
4621	MYH3	HP:0000358	Posteriorly rotated ears	5/9	OMIM:178110
4621	MYH3	HP:0000369	Low-set ears	HP:0040282	ORPHA:2990
4621	MYH3	HP:0000369	Low-set ears	5/9	OMIM:178110
4621	MYH3	HP:0000369	Low-set ears	1/1	OMIM:193700
4621	MYH3	HP:0000343	Long philtrum	1/1	OMIM:193700
4621	MYH3	HP:0000343	Long philtrum	HP:0040282	ORPHA:2053
4621	MYH3	HP:0000343	Long philtrum	1/7	OMIM:615777
4621	MYH3	HP:0000343	Long philtrum	HP:0040283	ORPHA:2990
4621	MYH3	HP:0011001	Increased bone mineral density	-	OMIM:131300
4621	MYH3	HP:0000347	Micrognathia	HP:0040282	ORPHA:2990
4621	MYH3	HP:0000347	Micrognathia	1/1	OMIM:193700
4621	MYH3	HP:0000347	Micrognathia	HP:0040282	ORPHA:1147
4621	MYH3	HP:0000346	Whistling appearance	-	OMIM:193700
4621	MYH3	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2990
4621	MYH3	HP:0000316	Hypertelorism	1/1	OMIM:193700
4621	MYH3	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2053
4621	MYH3	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:2990
4621	MYH3	HP:0000311	Round face	2/7	OMIM:615777
4621	MYH3	HP:0002987	Elbow flexion contracture	11/25	OMIM:193700
4621	MYH3	HP:0002987	Elbow flexion contracture	-	OMIM:178110
4621	MYH3	HP:0000325	Triangular face	-	OMIM:618436
4621	MYH3	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:2990
4621	MYH3	HP:0001629	Ventricular septal defect	2/7	OMIM:178110
4621	MYH3	HP:0001623	Breech presentation	-	OMIM:193700
4621	MYH3	HP:0002970	Genu varum	-	OMIM:615777
4621	MYH3	HP:0000307	Pointed chin	HP:0040282	ORPHA:2990
4621	MYH3	HP:0000303	Mandibular prognathia	-	OMIM:131300
4621	MYH3	HP:0000303	Mandibular prognathia	-	OMIM:193700
4621	MYH3	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:2990
4621	MYH3	HP:0005280	Depressed nasal bridge	2/2	OMIM:193700
4621	MYH3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4621	MYH3	HP:0000486	Strabismus	HP:0040283	ORPHA:2990
4621	MYH3	HP:0000486	Strabismus	12/27	OMIM:193700
4621	MYH3	HP:0000486	Strabismus	HP:0040282	ORPHA:2053
4621	MYH3	HP:0000494	Downslanted palpebral fissures	3/3	OMIM:618436
4621	MYH3	HP:0000494	Downslanted palpebral fissures	7/9	OMIM:178110
4621	MYH3	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:2053
4621	MYH3	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:2990
4621	MYH3	HP:0000490	Deeply set eye	HP:0040282	ORPHA:2053
4621	MYH3	HP:0000490	Deeply set eye	1/1	OMIM:193700
4621	MYH3	HP:0000492	Abnormal eyelid morphology	HP:0040282	ORPHA:2990
4621	MYH3	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:2053
4621	MYH3	HP:0000470	Short neck	10/10	OMIM:178110
4621	MYH3	HP:0000470	Short neck	6/8	OMIM:618469
4621	MYH3	HP:0000470	Short neck	1/1	OMIM:193700
4621	MYH3	HP:0000470	Short neck	HP:0040283	ORPHA:3275
4621	MYH3	HP:0000470	Short neck	HP:0040282	ORPHA:1147
4621	MYH3	HP:0000470	Short neck	1/7	OMIM:615777
4621	MYH3	HP:0000465	Webbed neck	5/9	OMIM:618469
4621	MYH3	HP:0000465	Webbed neck	8/9	OMIM:178110
4621	MYH3	HP:0000465	Webbed neck	HP:0040281	ORPHA:1147
4621	MYH3	HP:0000465	Webbed neck	HP:0040281	ORPHA:2990
4621	MYH3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4621	MYH3	HP:0001763	Pes planus	1/7	OMIM:615777
4621	MYH3	HP:0001763	Pes planus	HP:0040283	ORPHA:3275
4621	MYH3	HP:0000411	Protruding ear	HP:0040282	ORPHA:1147
4621	MYH3	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:2990
4621	MYH3	HP:0001762	Talipes equinovarus	-	OMIM:618436
4621	MYH3	HP:0001762	Talipes equinovarus	1/10	OMIM:618469
4621	MYH3	HP:0001762	Talipes equinovarus	2/2	OMIM:193700
4621	MYH3	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:3275
4621	MYH3	HP:0001762	Talipes equinovarus	HP:0040281	ORPHA:2053
4621	MYH3	HP:0000431	Wide nasal bridge	1/1	OMIM:193700
4621	MYH3	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:2053
4621	MYH3	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:1147
4621	MYH3	HP:0000430	Underdeveloped nasal alae	HP:0040281	ORPHA:2053
4621	MYH3	HP:0000430	Underdeveloped nasal alae	-	OMIM:193700
4621	MYH3	HP:0001845	Overlapping toe	1/1	OMIM:193700
4621	MYH3	HP:0001840	Metatarsus adductus	-	OMIM:615777
4621	MYH3	HP:0000520	Proptosis	2/4	OMIM:131300
4621	MYH3	HP:0000520	Proptosis	7/7	OMIM:615777
4621	MYH3	HP:0001822	Hallux valgus	-	OMIM:618436
4621	MYH3	HP:0001838	Rocker bottom foot	1/1	OMIM:193700
4621	MYH3	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:1146
4621	MYH3	HP:0000506	Telecanthus	-	OMIM:193700
4621	MYH3	HP:0000506	Telecanthus	HP:0040282	ORPHA:2990
4621	MYH3	HP:0000508	Ptosis	HP:0040282	ORPHA:2990
4621	MYH3	HP:0000508	Ptosis	-	OMIM:618436
4621	MYH3	HP:0000508	Ptosis	5/9	OMIM:178110
4621	MYH3	HP:0000508	Ptosis	-	OMIM:193700
4621	MYH3	HP:0000508	Ptosis	HP:0040282	ORPHA:2053
4621	MYH3	HP:0000581	Blepharophimosis	-	OMIM:193700
4621	MYH3	HP:0000592	Blue sclerae	2/7	OMIM:615777
4621	MYH3	HP:0011220	Prominent forehead	-	OMIM:193700
4621	MYH3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4621	MYH3	HP:0001883	Talipes	HP:0040282	ORPHA:1146
4621	MYH3	HP:0012514	Lower limb pain	4/4	OMIM:131300
4624	MYH6	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
4624	MYH6	HP:0001297	Stroke	HP:0040284	ORPHA:99103
4624	MYH6	HP:0001279	Syncope	HP:0040284	ORPHA:99103
4624	MYH6	HP:0000006	Autosomal dominant inheritance	-	OMIM:192600
4624	MYH6	HP:0000006	Autosomal dominant inheritance	-	OMIM:613251
4624	MYH6	HP:0000006	Autosomal dominant inheritance	-	OMIM:613252
4624	MYH6	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
4624	MYH6	HP:0000006	Autosomal dominant inheritance	-	OMIM:614089
4624	MYH6	HP:0033755	Increased left ventricular end-diastolic volume	3/3	OMIM:613252
4624	MYH6	HP:0033764	Death in middle age	1/1	OMIM:613251
4624	MYH6	HP:0002718	Recurrent bacterial infections	HP:0040284	ORPHA:99103
4624	MYH6	HP:0005957	Breathing dysregulation	HP:0040283	ORPHA:99103
4624	MYH6	HP:0002094	Dyspnea	HP:0040283	ORPHA:99103
4624	MYH6	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:99103
4624	MYH6	HP:0002090	Pneumonia	HP:0040284	ORPHA:99103
4624	MYH6	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
4624	MYH6	HP:0011712	Complete right bundle branch block	1/1	OMIM:613251
4624	MYH6	HP:0011710	Bundle branch block	HP:0040283	ORPHA:99103
4624	MYH6	HP:0011704	Sick sinus syndrome	-	OMIM:614090
4624	MYH6	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:99103
4624	MYH6	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
4624	MYH6	HP:0004756	Ventricular tachycardia	1/1	OMIM:613251
4624	MYH6	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:99103
4624	MYH6	HP:0004749	Atrial flutter	HP:0040283	ORPHA:99103
4624	MYH6	HP:0003596	Middle age onset	3/3	OMIM:613252
4624	MYH6	HP:0003584	Late onset	1/1	OMIM:613251
4624	MYH6	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:99103
4624	MYH6	HP:0032092	Left ventricular outflow tract obstruction	1/1	OMIM:613251
4624	MYH6	HP:0002326	Transient ischemic attack	HP:0040284	ORPHA:99103
4624	MYH6	HP:0010741	Pedal edema	HP:0040283	ORPHA:99103
4624	MYH6	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
4624	MYH6	HP:0001962	Palpitations	HP:0040282	ORPHA:99103
4624	MYH6	HP:0012664	Reduced left ventricular ejection fraction	3/3	OMIM:613252
4624	MYH6	HP:0012666	Severely reduced left ventricular ejection fraction	1/1	OMIM:613251
4624	MYH6	HP:0011462	Young adult onset	1/1	OMIM:613251
4624	MYH6	HP:0012764	Orthopnea	HP:0040283	ORPHA:99103
4624	MYH6	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
4624	MYH6	HP:0003198	Myopathy	HP:0040283	ORPHA:154
4624	MYH6	HP:0004467	Preauricular pit	-	OMIM:187500
4624	MYH6	HP:0030718	Right atrial enlargement	HP:0040282	ORPHA:99103
4624	MYH6	HP:0000969	Edema	HP:0040282	ORPHA:154
4624	MYH6	HP:0000961	Cyanosis	HP:0040284	ORPHA:99103
4624	MYH6	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
4624	MYH6	HP:0011675	Arrhythmia	-	OMIM:192600
4624	MYH6	HP:0011675	Arrhythmia	HP:0040283	ORPHA:99103
4624	MYH6	HP:0012250	ST segment depression	HP:0040283	ORPHA:99103
4624	MYH6	HP:0005133	Right ventricular dilatation	HP:0040283	ORPHA:99103
4624	MYH6	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:99103
4624	MYH6	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:99103
4624	MYH6	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:99103
4624	MYH6	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
4624	MYH6	HP:0012378	Fatigue	HP:0040282	ORPHA:154
4624	MYH6	HP:0012378	Fatigue	HP:0040282	ORPHA:99103
4624	MYH6	HP:0012382	Left-to-right shunt	HP:0040281	ORPHA:99103
4624	MYH6	HP:0006536	Airway obstruction	HP:0040284	ORPHA:99103
4624	MYH6	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:99103
4624	MYH6	HP:0005162	Abnormal left ventricular function	HP:0040283	ORPHA:99103
4624	MYH6	HP:0001699	Sudden death	-	OMIM:192600
4624	MYH6	HP:0001670	Asymmetric septal hypertrophy	-	OMIM:192600
4624	MYH6	HP:0000337	Broad forehead	-	OMIM:187500
4624	MYH6	HP:0001682	Subvalvular aortic stenosis	-	OMIM:192600
4624	MYH6	HP:0001684	Secundum atrial septal defect	-	OMIM:614089
4624	MYH6	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
4624	MYH6	HP:0001644	Dilated cardiomyopathy	3/3	OMIM:613252
4624	MYH6	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:99103
4624	MYH6	HP:0001639	Hypertrophic cardiomyopathy	2/2	OMIM:613251
4624	MYH6	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
4624	MYH6	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
4624	MYH6	HP:0001635	Congestive heart failure	-	OMIM:192600
4624	MYH6	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:99103
4624	MYH6	HP:0001635	Congestive heart failure	1/1	OMIM:613251
4624	MYH6	HP:0001635	Congestive heart failure	3/3	OMIM:613252
4624	MYH6	HP:0001633	Abnormal mitral valve morphology	HP:0040283	ORPHA:99103
4624	MYH6	HP:0005317	Increased pulmonary vascular resistance	HP:0040284	ORPHA:99103
4624	MYH6	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
4624	MYH6	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
4624	MYH6	HP:0001708	Right ventricular failure	HP:0040284	ORPHA:99103
4624	MYH6	HP:0001712	Left ventricular hypertrophy	1/1	OMIM:613251
4624	MYH6	HP:0000520	Proptosis	-	OMIM:187500
4624	MYH6	HP:0031664	Systolic heart murmur	HP:0040282	ORPHA:99103
4625	MYH7	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:59135
4625	MYH7	HP:0002460	Distal muscle weakness	-	OMIM:160500
4625	MYH7	HP:0003789	Minicore myopathy	HP:0040282	ORPHA:59135
4625	MYH7	HP:0001195	Single umbilical artery	1/4	OMIM:613426
4625	MYH7	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
4625	MYH7	HP:0033567	Right axis deviation	1/3	OMIM:255160
4625	MYH7	HP:0002421	Poor head control	HP:0040282	ORPHA:324604
4625	MYH7	HP:0003749	Pelvic girdle muscle weakness	1/4	OMIM:608358
4625	MYH7	HP:0003724	Shoulder girdle muscle atrophy	1/4	OMIM:608358
4625	MYH7	HP:0003722	Neck flexor weakness	1/4	OMIM:608358
4625	MYH7	HP:0003707	Calf muscle pseudohypertrophy	2/4	OMIM:608358
4625	MYH7	HP:0003704	Scapuloperoneal weakness	-	OMIM:255160
4625	MYH7	HP:0003704	Scapuloperoneal weakness	-	OMIM:608358
4625	MYH7	HP:0003701	Proximal muscle weakness	HP:0040283	OMIM:160500
4625	MYH7	HP:0003701	Proximal muscle weakness	1/3	OMIM:255160
4625	MYH7	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:324604
4625	MYH7	HP:0001297	Stroke	HP:0040284	ORPHA:1880
4625	MYH7	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:324604
4625	MYH7	HP:0001288	Gait disturbance	-	OMIM:160500
4625	MYH7	HP:0001288	Gait disturbance	HP:0040282	ORPHA:59135
4625	MYH7	HP:0001288	Gait disturbance	1/4	OMIM:608358
4625	MYH7	HP:0001265	Hyporeflexia	1/1	OMIM:160500
4625	MYH7	HP:0002515	Waddling gait	1/4	OMIM:608358
4625	MYH7	HP:0002527	Falls	1/4	OMIM:608358
4625	MYH7	HP:0002505	Loss of ambulation	1/3	OMIM:255160
4625	MYH7	HP:0003805	Rimmed vacuoles	-	ORPHA:59135
4625	MYH7	HP:0003805	Rimmed vacuoles	-	OMIM:160500
4625	MYH7	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:59135
4625	MYH7	HP:0003803	Type 1 muscle fiber predominance	-	OMIM:160500
4625	MYH7	HP:0003803	Type 1 muscle fiber predominance	-	OMIM:255160
4625	MYH7	HP:0003803	Type 1 muscle fiber predominance	-	OMIM:608358
4625	MYH7	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:324604
4625	MYH7	HP:0001324	Muscle weakness	-	OMIM:255160
4625	MYH7	HP:0001324	Muscle weakness	2/4	OMIM:608358
4625	MYH7	HP:0000007	Autosomal recessive inheritance	-	OMIM:255160
4625	MYH7	HP:0000006	Autosomal dominant inheritance	-	OMIM:613426
4625	MYH7	HP:0000006	Autosomal dominant inheritance	-	OMIM:192600
4625	MYH7	HP:0000006	Autosomal dominant inheritance	-	OMIM:160500
4625	MYH7	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
4625	MYH7	HP:0000006	Autosomal dominant inheritance	-	OMIM:608358
4625	MYH7	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:1880
4625	MYH7	HP:0002650	Scoliosis	-	OMIM:160500
4625	MYH7	HP:0002650	Scoliosis	HP:0040282	ORPHA:324604
4625	MYH7	HP:0002650	Scoliosis	3/3	OMIM:255160
4625	MYH7	HP:0002650	Scoliosis	HP:0040282	ORPHA:59135
4625	MYH7	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040283	ORPHA:59135
4625	MYH7	HP:0008981	Calf muscle hypertrophy	1/3	OMIM:255160
4625	MYH7	HP:0031295	Left atrial enlargement	1/1	OMIM:160500
4625	MYH7	HP:0002792	Reduced vital capacity	1/4	OMIM:608358
4625	MYH7	HP:0001430	Abnormal calf musculature morphology	HP:0040282	ORPHA:59135
4625	MYH7	HP:0004696	Talipes cavus equinovarus	HP:0040282	ORPHA:59135
4625	MYH7	HP:0005991	Limited neck flexion	HP:0040282	ORPHA:324604
4625	MYH7	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:324604
4625	MYH7	HP:0003325	Limb-girdle muscle weakness	1/3	OMIM:255160
4625	MYH7	HP:0003326	Myalgia	HP:0040282	ORPHA:59135
4625	MYH7	HP:0003326	Myalgia	-	OMIM:160500
4625	MYH7	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:324604
4625	MYH7	HP:0003323	Progressive muscle weakness	HP:0040282	ORPHA:59135
4625	MYH7	HP:0003324	Generalized muscle weakness	-	OMIM:608358
4625	MYH7	HP:0002094	Dyspnea	HP:0040283	ORPHA:1880
4625	MYH7	HP:0002092	Pulmonary arterial hypertension	1/19	OMIM:613426
4625	MYH7	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:1880
4625	MYH7	HP:0002093	Respiratory insufficiency	-	OMIM:255160
4625	MYH7	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:324604
4625	MYH7	HP:0002091	Restrictive ventilatory defect	1/3	OMIM:255160
4625	MYH7	HP:0002058	Myopathic facies	1/3	OMIM:255160
4625	MYH7	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
4625	MYH7	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:1880
4625	MYH7	HP:0011712	Complete right bundle branch block	1/3	OMIM:255160
4625	MYH7	HP:0011703	Sinus tachycardia	1/4	OMIM:255160
4625	MYH7	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:59135
4625	MYH7	HP:0008180	Mildly elevated creatine kinase	-	OMIM:160500
4625	MYH7	HP:0008180	Mildly elevated creatine kinase	2/4	OMIM:608358
4625	MYH7	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
4625	MYH7	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:59135
4625	MYH7	HP:0003458	EMG: myopathic abnormalities	1/1	OMIM:255160
4625	MYH7	HP:0003458	EMG: myopathic abnormalities	4/4	OMIM:608358
4625	MYH7	HP:0004756	Ventricular tachycardia	2/19	OMIM:613426
4625	MYH7	HP:0003445	EMG: neuropathic changes	-	OMIM:160500
4625	MYH7	HP:0011916	Toe extensor amyotrophy	HP:0040281	ORPHA:59135
4625	MYH7	HP:0011916	Toe extensor amyotrophy	-	OMIM:160500
4625	MYH7	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:324604
4625	MYH7	HP:0003593	Infantile onset	1/1	OMIM:160500
4625	MYH7	HP:0003593	Infantile onset	1/23	OMIM:613426
4625	MYH7	HP:0003581	Adult onset	31/42	OMIM:613426
4625	MYH7	HP:0003551	Difficulty climbing stairs	1/4	OMIM:608358
4625	MYH7	HP:0003547	Shoulder girdle muscle weakness	4/4	OMIM:608358
4625	MYH7	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:324604
4625	MYH7	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:324604
4625	MYH7	HP:0200128	Biventricular hypertrophy	2/3	OMIM:255160
4625	MYH7	HP:0100749	Chest pain	HP:0040282	ORPHA:1880
4625	MYH7	HP:0010628	Facial palsy	-	OMIM:160500
4625	MYH7	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040282	ORPHA:59135
4625	MYH7	HP:0003697	Scapuloperoneal amyotrophy	-	OMIM:255160
4625	MYH7	HP:0003697	Scapuloperoneal amyotrophy	-	OMIM:608358
4625	MYH7	HP:0003691	Scapular winging	3/4	OMIM:608358
4625	MYH7	HP:0003687	Centrally nucleated skeletal muscle fibers	-	OMIM:255160
4625	MYH7	HP:0003687	Centrally nucleated skeletal muscle fibers	-	OMIM:608358
4625	MYH7	HP:0003677	Slowly progressive	-	OMIM:160500
4625	MYH7	HP:0003677	Slowly progressive	-	OMIM:255160
4625	MYH7	HP:0003677	Slowly progressive	-	OMIM:608358
4625	MYH7	HP:0100613	Death in early adulthood	1/3	OMIM:255160
4625	MYH7	HP:0007126	Proximal amyotrophy	1/3	OMIM:255160
4625	MYH7	HP:0010741	Pedal edema	HP:0040283	ORPHA:1880
4625	MYH7	HP:0004971	Pulmonary artery hypoplasia	HP:0040283	OMIM:613426
4625	MYH7	HP:0003621	Juvenile onset	1/3	OMIM:255160
4625	MYH7	HP:0003621	Juvenile onset	7/42	OMIM:613426
4625	MYH7	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
4625	MYH7	HP:0011399	Tibialis anterior muscle atrophy	1/1	OMIM:160500
4625	MYH7	HP:0009077	Weakness of long finger extensor muscles	1/1	OMIM:160500
4625	MYH7	HP:0001962	Palpitations	HP:0040282	ORPHA:1880
4625	MYH7	HP:0009053	Distal lower limb muscle weakness	1/1	OMIM:160500
4625	MYH7	HP:0009055	Generalized limb muscle atrophy	-	OMIM:608358
4625	MYH7	HP:0009058	Increased muscle lipid content	HP:0040282	ORPHA:324604
4625	MYH7	HP:0009046	Difficulty running	1/4	OMIM:608358
4625	MYH7	HP:0009031	Amyotrophy of ankle musculature	-	OMIM:160500
4625	MYH7	HP:0012664	Reduced left ventricular ejection fraction	17/21	OMIM:613426
4625	MYH7	HP:0009027	Foot dorsiflexor weakness	HP:0040281	ORPHA:59135
4625	MYH7	HP:0004322	Short stature	HP:0040282	ORPHA:324604
4625	MYH7	HP:0004322	Short stature	3/3	OMIM:255160
4625	MYH7	HP:0004308	Ventricular arrhythmia	0/4	OMIM:613426
4625	MYH7	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:1880
4625	MYH7	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:1880
4625	MYH7	HP:0030682	Left ventricular noncompaction	21/23	OMIM:613426
4625	MYH7	HP:0034192	Pulmonary thromboembolism	2/19	OMIM:613426
4625	MYH7	HP:0011463	Childhood onset	-	OMIM:160500
4625	MYH7	HP:0011463	Childhood onset	3/3	OMIM:608358
4625	MYH7	HP:0011463	Childhood onset	3/42	OMIM:613426
4625	MYH7	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
4625	MYH7	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:1880
4625	MYH7	HP:0003198	Myopathy	HP:0040283	ORPHA:154
4625	MYH7	HP:0003198	Myopathy	1/4	OMIM:608358
4625	MYH7	HP:0100306	Muscle fiber hyaline bodies	3/3	OMIM:255160
4625	MYH7	HP:0004467	Preauricular pit	-	OMIM:187500
4625	MYH7	HP:0011575	Imperforate tricuspid valve	HP:0040281	ORPHA:1880
4625	MYH7	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:160500
4625	MYH7	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:255160
4625	MYH7	HP:0003200	Ragged-red muscle fibers	-	OMIM:160500
4625	MYH7	HP:0030848	Elevated jugular venous pressure	2/3	OMIM:255160
4625	MYH7	HP:0010316	Ebstein anomaly of the tricuspid valve	HP:0040281	ORPHA:1880
4625	MYH7	HP:0010316	Ebstein anomaly of the tricuspid valve	1/4	OMIM:613426
4625	MYH7	HP:0000969	Edema	HP:0040282	ORPHA:154
4625	MYH7	HP:0000961	Cyanosis	HP:0040282	ORPHA:1880
4625	MYH7	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:324604
4625	MYH7	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
4625	MYH7	HP:0011675	Arrhythmia	HP:0040282	ORPHA:1880
4625	MYH7	HP:0011675	Arrhythmia	-	OMIM:192600
4625	MYH7	HP:0011682	Perimembranous ventricular septal defect	1/4	OMIM:613426
4625	MYH7	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:1880
4625	MYH7	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:324604
4625	MYH7	HP:0030091	Absent muscle fiber merosin	-	ORPHA:324604
4625	MYH7	HP:0031329	Interstitial cardiac fibrosis	1/1	OMIM:613426
4625	MYH7	HP:0000218	High palate	-	OMIM:160500
4625	MYH7	HP:0000218	High palate	HP:0040282	ORPHA:324604
4625	MYH7	HP:0000218	High palate	1/3	OMIM:255160
4625	MYH7	HP:0000218	High palate	HP:0040282	ORPHA:59135
4625	MYH7	HP:0002877	Nocturnal hypoventilation	HP:0040282	ORPHA:324604
4625	MYH7	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
4625	MYH7	HP:0002875	Exertional dyspnea	2/3	OMIM:255160
4625	MYH7	HP:0001508	Failure to thrive	HP:0040282	ORPHA:324604
4625	MYH7	HP:0030051	Tip-toe gait	1/1	OMIM:160500
4625	MYH7	HP:0012378	Fatigue	HP:0040282	ORPHA:154
4625	MYH7	HP:0012378	Fatigue	HP:0040281	ORPHA:1880
4625	MYH7	HP:0002938	Lumbar hyperlordosis	1/1	OMIM:160500
4625	MYH7	HP:0002943	Thoracic scoliosis	3/3	OMIM:255160
4625	MYH7	HP:0005180	Tricuspid regurgitation	HP:0040282	ORPHA:1880
4625	MYH7	HP:0005180	Tricuspid regurgitation	3/4	OMIM:613426
4625	MYH7	HP:0001699	Sudden death	-	OMIM:192600
4625	MYH7	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:1880
4625	MYH7	HP:0001670	Asymmetric septal hypertrophy	-	OMIM:192600
4625	MYH7	HP:0000337	Broad forehead	-	OMIM:187500
4625	MYH7	HP:0001667	Right ventricular hypertrophy	HP:0040283	ORPHA:324604
4625	MYH7	HP:0001682	Subvalvular aortic stenosis	-	OMIM:192600
4625	MYH7	HP:0001680	Coarctation of aorta	HP:0040283	OMIM:613426
4625	MYH7	HP:0001647	Bicuspid aortic valve	HP:0040283	OMIM:613426
4625	MYH7	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:1880
4625	MYH7	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:1880
4625	MYH7	HP:0001645	Sudden cardiac death	6/23	OMIM:613426
4625	MYH7	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
4625	MYH7	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:59135
4625	MYH7	HP:0001644	Dilated cardiomyopathy	HP:0040283	OMIM:160500
4625	MYH7	HP:0001644	Dilated cardiomyopathy	-	OMIM:613426
4625	MYH7	HP:0001644	Dilated cardiomyopathy	-	OMIM:255160
4625	MYH7	HP:0001658	Myocardial infarction	HP:0040284	ORPHA:1880
4625	MYH7	HP:0001653	Mitral regurgitation	2/23	OMIM:613426
4625	MYH7	HP:0001620	Abnormally high-pitched voice	HP:0040282	ORPHA:324604
4625	MYH7	HP:0001622	Premature birth	HP:0040281	ORPHA:1880
4625	MYH7	HP:0000308	Microretrognathia	HP:0040283	ORPHA:324604
4625	MYH7	HP:0001639	Hypertrophic cardiomyopathy	0/4	OMIM:608358
4625	MYH7	HP:0001639	Hypertrophic cardiomyopathy	3/3	OMIM:255160
4625	MYH7	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
4625	MYH7	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
4625	MYH7	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:1880
4625	MYH7	HP:0001635	Congestive heart failure	16/42	OMIM:613426
4625	MYH7	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:324604
4625	MYH7	HP:0001635	Congestive heart failure	2/3	OMIM:255160
4625	MYH7	HP:0001635	Congestive heart failure	-	OMIM:192600
4625	MYH7	HP:0001631	Atrial septal defect	HP:0040281	ORPHA:1880
4625	MYH7	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:324604
4625	MYH7	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:324604
4625	MYH7	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:324604
4625	MYH7	HP:0031659	Fourth heart sound	1/3	OMIM:255160
4625	MYH7	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
4625	MYH7	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
4625	MYH7	HP:0001708	Right ventricular failure	HP:0040283	ORPHA:324604
4625	MYH7	HP:0000467	Neck muscle weakness	HP:0040282	ORPHA:59135
4625	MYH7	HP:0000467	Neck muscle weakness	-	OMIM:160500
4625	MYH7	HP:0001763	Pes planus	HP:0040283	ORPHA:324604
4625	MYH7	HP:0012418	Hypoxemia	HP:0040283	ORPHA:1880
4625	MYH7	HP:0025710	Late young adult onset	1/3	OMIM:255160
4625	MYH7	HP:0001761	Pes cavus	-	OMIM:160500
4625	MYH7	HP:0012507	Weakness of orbicularis oculi muscle	HP:0040282	ORPHA:59135
4625	MYH7	HP:0000520	Proptosis	-	OMIM:187500
4625	MYH7	HP:0031667	Holosystolic murmur	HP:0040282	ORPHA:1880
4626	MYH8	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:3377
4626	MYH8	HP:0000006	Autosomal dominant inheritance	-	OMIM:608837
4626	MYH8	HP:0000006	Autosomal dominant inheritance	-	OMIM:158300
4626	MYH8	HP:0002002	Deep philtrum	HP:0040283	OMIM:158300
4626	MYH8	HP:0002015	Dysphagia	-	OMIM:158300
4626	MYH8	HP:0011968	Feeding difficulties	-	OMIM:158300
4626	MYH8	HP:0010621	Cutaneous syndactyly of toes	-	OMIM:158300
4626	MYH8	HP:0009773	Symphalangism affecting the phalanges of the hand	HP:0040281	ORPHA:3377
4626	MYH8	HP:0004322	Short stature	-	OMIM:158300
4626	MYH8	HP:0004322	Short stature	HP:0040281	ORPHA:3377
4626	MYH8	HP:0003011	Abnormality of the musculature	HP:0040281	ORPHA:3377
4626	MYH8	HP:0005684	Distal arthrogryposis	-	OMIM:158300
4626	MYH8	HP:0005684	Distal arthrogryposis	-	OMIM:608837
4626	MYH8	HP:0400000	Tall chin	HP:0040283	OMIM:158300
4626	MYH8	HP:0011672	Cardiac myxoma	-	OMIM:608837
4626	MYH8	HP:0000256	Macrocephaly	HP:0040283	OMIM:158300
4626	MYH8	HP:0002827	Hip dislocation	HP:0040283	ORPHA:3377
4626	MYH8	HP:0002827	Hip dislocation	-	OMIM:158300
4626	MYH8	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:158300
4626	MYH8	HP:0000211	Trismus	2/2	OMIM:158300
4626	MYH8	HP:0000211	Trismus	-	OMIM:608837
4626	MYH8	HP:0000347	Micrognathia	-	OMIM:158300
4626	MYH8	HP:0000324	Facial asymmetry	-	OMIM:158300
4626	MYH8	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:3377
4626	MYH8	HP:0001765	Hammertoe	-	OMIM:158300
4626	MYH8	HP:0001762	Talipes equinovarus	-	OMIM:158300
4626	MYH8	HP:0001840	Metatarsus adductus	-	OMIM:158300
4626	MYH8	HP:0000508	Ptosis	-	OMIM:158300
4626	MYH8	HP:0000508	Ptosis	HP:0040283	ORPHA:3377
4627	MYH9	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:182050
4627	MYH9	HP:0000093	Proteinuria	HP:0040282	ORPHA:182050
4627	MYH9	HP:0000077	Abnormality of the kidney	0/10	OMIM:155100
4627	MYH9	HP:0000006	Autosomal dominant inheritance	-	OMIM:155100
4627	MYH9	HP:0000006	Autosomal dominant inheritance	-	OMIM:603622
4627	MYH9	HP:0000123	Nephritis	HP:0040282	ORPHA:182050
4627	MYH9	HP:0000132	Menorrhagia	-	OMIM:155100
4627	MYH9	HP:0000132	Menorrhagia	HP:0040282	ORPHA:182050
4627	MYH9	HP:0000112	Nephropathy	HP:0040282	ORPHA:182050
4627	MYH9	HP:0008148	Impaired epinephrine-induced platelet aggregation	1/1	OMIM:155100
4627	MYH9	HP:0011877	Increased mean platelet volume	HP:0040282	ORPHA:182050
4627	MYH9	HP:0008264	Neutrophil inclusion bodies	2/2	OMIM:155100
4627	MYH9	HP:0008264	Neutrophil inclusion bodies	HP:0040282	ORPHA:182050
4627	MYH9	HP:0003577	Congenital onset	1/1	OMIM:155100
4627	MYH9	HP:0004866	Impaired ADP-induced platelet aggregation	1/1	OMIM:155100
4627	MYH9	HP:0003621	Juvenile onset	-	OMIM:603622
4627	MYH9	HP:0001977	Abnormal thrombosis	-	OMIM:155100
4627	MYH9	HP:0001905	Congenital thrombocytopenia	HP:0040281	ORPHA:182050
4627	MYH9	HP:0001902	Giant platelets	10/10	OMIM:155100
4627	MYH9	HP:0001902	Giant platelets	HP:0040282	ORPHA:182050
4627	MYH9	HP:0003010	Prolonged bleeding time	-	OMIM:155100
4627	MYH9	HP:0003010	Prolonged bleeding time	HP:0040282	ORPHA:182050
4627	MYH9	HP:0004406	Spontaneous, recurrent epistaxis	HP:0040282	ORPHA:182050
4627	MYH9	HP:0040235	Leukocyte inclusion bodies	10/10	OMIM:155100
4627	MYH9	HP:0000978	Bruising susceptibility	-	OMIM:155100
4627	MYH9	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:182050
4627	MYH9	HP:0040185	Macrothrombocytopenia	2/2	OMIM:155100
4627	MYH9	HP:0005101	High-frequency hearing impairment	-	OMIM:603622
4627	MYH9	HP:0007819	Presenile cataracts	HP:0040282	ORPHA:182050
4627	MYH9	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:182050
4627	MYH9	HP:0001658	Myocardial infarction	-	OMIM:155100
4627	MYH9	HP:0001658	Myocardial infarction	HP:0040284	ORPHA:182050
4627	MYH9	HP:0000407	Sensorineural hearing impairment	1/11	OMIM:155100
4627	MYH9	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:182050
4627	MYH9	HP:0000421	Epistaxis	-	OMIM:155100
4627	MYH9	HP:0031689	Megakaryocyte dysplasia	1/1	OMIM:155100
4627	MYH9	HP:0001892	Abnormal bleeding	-	OMIM:155100
4627	MYH9	HP:0001873	Thrombocytopenia	10/10	OMIM:155100
4629	MYH11	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
4629	MYH11	HP:0010956	Fetal megacystis	5/5	OMIM:619351
4629	MYH11	HP:0033505	Livedo reticularis	1/10	OMIM:132900
4629	MYH11	HP:0001297	Stroke	3/20	OMIM:132900
4629	MYH11	HP:0001297	Stroke	HP:0040283	ORPHA:229
4629	MYH11	HP:0001297	Stroke	HP:0040283	ORPHA:91387
4629	MYH11	HP:0100806	Sepsis	HP:0040283	ORPHA:2241
4629	MYH11	HP:0002586	Peritonitis	1/1	OMIM:619351
4629	MYH11	HP:0002580	Volvulus	1/8	OMIM:619350
4629	MYH11	HP:0002578	Gastroparesis	2/8	OMIM:619350
4629	MYH11	HP:0002566	Intestinal malrotation	1/7	OMIM:619350
4629	MYH11	HP:0002566	Intestinal malrotation	HP:0040282	ORPHA:2241
4629	MYH11	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
4629	MYH11	HP:0000072	Hydroureter	HP:0040282	ORPHA:2241
4629	MYH11	HP:0000021	Megacystis	5/7	OMIM:619350
4629	MYH11	HP:0000021	Megacystis	2/2	OMIM:619351
4629	MYH11	HP:0000021	Megacystis	HP:0040281	ORPHA:2241
4629	MYH11	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
4629	MYH11	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
4629	MYH11	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2241
4629	MYH11	HP:0000007	Autosomal recessive inheritance	-	OMIM:619351
4629	MYH11	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:2241
4629	MYH11	HP:0000006	Autosomal dominant inheritance	-	OMIM:619350
4629	MYH11	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
4629	MYH11	HP:0000006	Autosomal dominant inheritance	-	OMIM:132900
4629	MYH11	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
4629	MYH11	HP:0002647	Aortic dissection	1/1	OMIM:132900
4629	MYH11	HP:0002647	Aortic dissection	HP:0040283	ORPHA:229
4629	MYH11	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
4629	MYH11	HP:0002616	Aortic root aneurysm	HP:0040282	ORPHA:229
4629	MYH11	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
4629	MYH11	HP:0012180	Cystic medial necrosis	2/2	OMIM:132900
4629	MYH11	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:229
4629	MYH11	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
4629	MYH11	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
4629	MYH11	HP:0002780	Bronchomalacia	1/1	OMIM:619351
4629	MYH11	HP:0002719	Recurrent infections	1/1	OMIM:619351
4629	MYH11	HP:0002020	Gastroesophageal reflux	5/8	OMIM:619350
4629	MYH11	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:2241
4629	MYH11	HP:0002036	Hiatus hernia	5/8	OMIM:619350
4629	MYH11	HP:0002035	Rectal prolapse	1/7	OMIM:619350
4629	MYH11	HP:0030996	Megaduodenum	1/8	OMIM:619350
4629	MYH11	HP:0002015	Dysphagia	3/8	OMIM:619350
4629	MYH11	HP:0002089	Pulmonary hypoplasia	1/1	OMIM:619351
4629	MYH11	HP:0100546	Carotid artery stenosis	1/1	OMIM:132900
4629	MYH11	HP:0100544	Neoplasm of the heart	HP:0040283	ORPHA:2241
4629	MYH11	HP:0002043	Esophageal stricture	1/8	OMIM:619350
4629	MYH11	HP:0100519	Anuria	1/1	OMIM:619351
4629	MYH11	HP:0033132	Renal cortical hyperechogenicity	1/1	OMIM:619351
4629	MYH11	HP:0100580	Barrett esophagus	1/8	OMIM:619350
4629	MYH11	HP:0033165	Necrotizing enterocolitis	1/8	OMIM:619350
4629	MYH11	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
4629	MYH11	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
4629	MYH11	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
4629	MYH11	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
4629	MYH11	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
4629	MYH11	HP:0004890	Elevated pulmonary artery pressure	1/1	OMIM:619351
4629	MYH11	HP:0004887	Respiratory failure requiring assisted ventilation	1/1	OMIM:619351
4629	MYH11	HP:0100771	Hypoperistalsis	HP:0040281	ORPHA:2241
4629	MYH11	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:229
4629	MYH11	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
4629	MYH11	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
4629	MYH11	HP:0100749	Chest pain	HP:0040282	ORPHA:229
4629	MYH11	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
4629	MYH11	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
4629	MYH11	HP:0100633	Esophagitis	5/8	OMIM:619350
4629	MYH11	HP:0004959	Descending thoracic aorta aneurysm	HP:0040282	ORPHA:229
4629	MYH11	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
4629	MYH11	HP:0004970	Ascending tubular aorta aneurysm	5/11	OMIM:132900
4629	MYH11	HP:0004933	Ascending aortic dissection	3/10	OMIM:132900
4629	MYH11	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:229
4629	MYH11	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
4629	MYH11	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:229
4629	MYH11	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
4629	MYH11	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:229
4629	MYH11	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
4629	MYH11	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
4629	MYH11	HP:0031857	Ineffective esophageal peristalsis	2/8	OMIM:619350
4629	MYH11	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2241
4629	MYH11	HP:0004389	Intestinal pseudo-obstruction	1/8	OMIM:619350
4629	MYH11	HP:0004388	Microcolon	HP:0040281	ORPHA:2241
4629	MYH11	HP:0004388	Microcolon	2/2	OMIM:619351
4629	MYH11	HP:0004392	Prune belly	1/1	OMIM:619351
4629	MYH11	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
4629	MYH11	HP:0012727	Thoracic aortic aneurysm	1/1	OMIM:619351
4629	MYH11	HP:0012727	Thoracic aortic aneurysm	5/16	OMIM:132900
4629	MYH11	HP:0011499	Mydriasis	1/1	OMIM:619351
4629	MYH11	HP:0011461	Fetal onset	5/5	OMIM:619351
4629	MYH11	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:229
4629	MYH11	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
4629	MYH11	HP:0004467	Preauricular pit	-	OMIM:187500
4629	MYH11	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
4629	MYH11	HP:0003270	Abdominal distention	1/1	OMIM:619351
4629	MYH11	HP:0003270	Abdominal distention	HP:0040281	ORPHA:2241
4629	MYH11	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
4629	MYH11	HP:0000965	Cutis marmorata	HP:0040283	ORPHA:229
4629	MYH11	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
4629	MYH11	HP:0008034	Abnormal iris pigmentation	-	OMIM:132900
4629	MYH11	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
4629	MYH11	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
4629	MYH11	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:229
4629	MYH11	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
4629	MYH11	HP:0001562	Oligohydramnios	4/4	OMIM:619351
4629	MYH11	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:2241
4629	MYH11	HP:0001522	Death in infancy	HP:0040283	ORPHA:2241
4629	MYH11	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2241
4629	MYH11	HP:0001539	Omphalocele	HP:0040283	ORPHA:2241
4629	MYH11	HP:0012383	Bidirectional shunt	1/1	OMIM:619351
4629	MYH11	HP:0005214	Intestinal obstruction	1/7	OMIM:619350
4629	MYH11	HP:0005162	Abnormal left ventricular function	-	OMIM:132900
4629	MYH11	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:229
4629	MYH11	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
4629	MYH11	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040282	ORPHA:2241
4629	MYH11	HP:0012330	Pyelonephritis	1/1	OMIM:619351
4629	MYH11	HP:0000337	Broad forehead	-	OMIM:187500
4629	MYH11	HP:0001677	Coronary artery atherosclerosis	2/7	OMIM:132900
4629	MYH11	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:229
4629	MYH11	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
4629	MYH11	HP:0001647	Bicuspid aortic valve	-	OMIM:132900
4629	MYH11	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
4629	MYH11	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
4629	MYH11	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:229
4629	MYH11	HP:0001643	Patent ductus arteriosus	1/1	OMIM:619351
4629	MYH11	HP:0001643	Patent ductus arteriosus	7/28	OMIM:132900
4629	MYH11	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
4629	MYH11	HP:0001659	Aortic regurgitation	-	OMIM:132900
4629	MYH11	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:229
4629	MYH11	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
4629	MYH11	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:229
4629	MYH11	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
4629	MYH11	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
4629	MYH11	HP:0012499	Descending aortic dissection	2/16	OMIM:132900
4629	MYH11	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:229
4629	MYH11	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
4629	MYH11	HP:0012495	Posterior cerebral artery stenosis	1/1	OMIM:132900
4629	MYH11	HP:0012493	Middle cerebral artery stenosis	1/1	OMIM:132900
4629	MYH11	HP:0012494	Anterior cerebral artery stenosis	1/1	OMIM:132900
4629	MYH11	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:619351
4629	MYH11	HP:0012450	Chronic constipation	1/8	OMIM:619350
4629	MYH11	HP:0011102	Ileal atresia	1/1	OMIM:619351
4629	MYH11	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
4629	MYH11	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
4629	MYH11	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
4629	MYH11	HP:0000520	Proptosis	-	OMIM:187500
4632	MYL1	HP:0003701	Proximal muscle weakness	1/2	OMIM:618414
4632	MYL1	HP:0001270	Motor delay	-	OMIM:618414
4632	MYL1	HP:0001284	Areflexia	1/2	OMIM:618414
4632	MYL1	HP:0001252	Hypotonia	2/2	OMIM:618414
4632	MYL1	HP:0003803	Type 1 muscle fiber predominance	1/2	OMIM:618414
4632	MYL1	HP:0001371	Flexion contracture	-	OMIM:618414
4632	MYL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618414
4632	MYL1	HP:0002747	Respiratory insufficiency due to muscle weakness	2/2	OMIM:618414
4632	MYL1	HP:0003327	Axial muscle weakness	2/2	OMIM:618414
4632	MYL1	HP:0003324	Generalized muscle weakness	1/2	OMIM:618414
4632	MYL1	HP:0002058	Myopathic facies	1/2	OMIM:618414
4632	MYL1	HP:0040288	Nasogastric tube feeding	1/2	OMIM:618414
4632	MYL1	HP:0002104	Apnea	1/2	OMIM:618414
4632	MYL1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1/2	OMIM:618414
4632	MYL1	HP:0003577	Congenital onset	2/2	OMIM:618414
4632	MYL1	HP:0003557	Increased variability in muscle fiber diameter	2/2	OMIM:618414
4632	MYL1	HP:0011968	Feeding difficulties	1/2	OMIM:618414
4632	MYL1	HP:0040081	Abnormal circulating creatine kinase concentration	0/2	OMIM:618414
4632	MYL1	HP:0003273	Hip contracture	1/2	OMIM:618414
4632	MYL1	HP:0100297	Increased endomysial connective tissue	2/2	OMIM:618414
4632	MYL1	HP:0006380	Knee flexion contracture	1/2	OMIM:618414
4632	MYL1	HP:0002878	Respiratory failure	2/2	OMIM:618414
4632	MYL1	HP:0000218	High palate	1/2	OMIM:618414
4632	MYL1	HP:0001561	Polyhydramnios	1/2	OMIM:618414
4632	MYL1	HP:0001558	Decreased fetal movement	1/2	OMIM:618414
4632	MYL1	HP:0001522	Death in infancy	1/2	OMIM:618414
4632	MYL1	HP:0002987	Elbow flexion contracture	1/2	OMIM:618414
4632	MYL1	HP:0030319	Weakness of facial musculature	2/2	OMIM:618414
4632	MYL1	HP:0032988	Persistent head lag	1/2	OMIM:618414
4632	MYL1	HP:0000467	Neck muscle weakness	1/2	OMIM:618414
4633	MYL2	HP:0010872	T-wave inversion	14/22	OMIM:608758
4633	MYL2	HP:0002421	Poor head control	HP:0040282	ORPHA:2020
4633	MYL2	HP:0003749	Pelvic girdle muscle weakness	HP:0040283	ORPHA:2020
4633	MYL2	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	13/13	OMIM:619424
4633	MYL2	HP:0001290	Generalized hypotonia	4/4	OMIM:619424
4633	MYL2	HP:0001270	Motor delay	HP:0040282	ORPHA:2020
4633	MYL2	HP:0001284	Areflexia	HP:0040282	ORPHA:2020
4633	MYL2	HP:0001252	Hypotonia	HP:0040281	ORPHA:2020
4633	MYL2	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:2020
4633	MYL2	HP:0001371	Flexion contracture	HP:0040282	ORPHA:2020
4633	MYL2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619424
4633	MYL2	HP:0001337	Tremor	12/12	OMIM:619424
4633	MYL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:608758
4633	MYL2	HP:0002650	Scoliosis	HP:0040283	ORPHA:2020
4633	MYL2	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:2020
4633	MYL2	HP:0031295	Left atrial enlargement	1/1	OMIM:619424
4633	MYL2	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:2020
4633	MYL2	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:2020
4633	MYL2	HP:0002015	Dysphagia	HP:0040282	ORPHA:2020
4633	MYL2	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:2020
4633	MYL2	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:2020
4633	MYL2	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:2020
4633	MYL2	HP:0003324	Generalized muscle weakness	13/13	OMIM:619424
4633	MYL2	HP:0011807	Type 1 muscle fiber atrophy	HP:0040281	ORPHA:2020
4633	MYL2	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:2020
4633	MYL2	HP:0002094	Dyspnea	1/7	OMIM:608758
4633	MYL2	HP:0002058	Myopathic facies	HP:0040282	ORPHA:2020
4633	MYL2	HP:0003388	Easy fatigability	HP:0040282	ORPHA:2020
4633	MYL2	HP:0011713	Left bundle branch block	1/7	OMIM:608758
4633	MYL2	HP:0004756	Ventricular tachycardia	-	OMIM:608758
4633	MYL2	HP:0004755	Supraventricular tachycardia	1/7	OMIM:608758
4633	MYL2	HP:0002169	Clonus	12/12	OMIM:619424
4633	MYL2	HP:0011842	Abnormal skeletal morphology	HP:0040282	ORPHA:2020
4633	MYL2	HP:0002240	Hepatomegaly	4/4	OMIM:619424
4633	MYL2	HP:0003581	Adult onset	7/7	OMIM:608758
4633	MYL2	HP:0003547	Shoulder girdle muscle weakness	HP:0040283	ORPHA:2020
4633	MYL2	HP:0004878	Intercostal muscle weakness	HP:0040283	ORPHA:2020
4633	MYL2	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:2020
4633	MYL2	HP:0200128	Biventricular hypertrophy	1/1	OMIM:619424
4633	MYL2	HP:0100749	Chest pain	1/7	OMIM:608758
4633	MYL2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2020
4633	MYL2	HP:0010628	Facial palsy	2/13	OMIM:619424
4633	MYL2	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:2020
4633	MYL2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:2020
4633	MYL2	HP:0002321	Vertigo	-	OMIM:608758
4633	MYL2	HP:0002315	Headache	HP:0040283	ORPHA:2020
4633	MYL2	HP:0010804	Tented upper lip vermilion	7/13	OMIM:619424
4633	MYL2	HP:0003623	Neonatal onset	17/17	OMIM:619424
4633	MYL2	HP:0001962	Palpitations	-	OMIM:608758
4633	MYL2	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2020
4633	MYL2	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:2020
4633	MYL2	HP:0000678	Dental crowding	HP:0040282	ORPHA:2020
4633	MYL2	HP:0009004	Hypoplasia of the musculature	HP:0040283	ORPHA:2020
4633	MYL2	HP:0004396	Poor appetite	HP:0040282	ORPHA:2020
4633	MYL2	HP:0004347	Weakness of muscles of respiration	HP:0040282	ORPHA:2020
4633	MYL2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:2020
4633	MYL2	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:2020
4633	MYL2	HP:0012785	Flexion contracture of finger	HP:0040283	ORPHA:2020
4633	MYL2	HP:0030718	Right atrial enlargement	1/1	OMIM:619424
4633	MYL2	HP:0003236	Elevated circulating creatine kinase concentration	10/13	OMIM:619424
4633	MYL2	HP:0003273	Hip contracture	HP:0040283	ORPHA:2020
4633	MYL2	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/13	OMIM:619424
4633	MYL2	HP:0000276	Long face	HP:0040283	ORPHA:2020
4633	MYL2	HP:0005144	Ventricular septal hypertrophy	-	OMIM:608758
4633	MYL2	HP:0006466	Ankle flexion contracture	HP:0040283	ORPHA:2020
4633	MYL2	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:2020
4633	MYL2	HP:0031318	Myofiber disarray	11/11	OMIM:619424
4633	MYL2	HP:0002878	Respiratory failure	HP:0040283	ORPHA:2020
4633	MYL2	HP:0000218	High palate	HP:0040282	ORPHA:2020
4633	MYL2	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:2020
4633	MYL2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:2020
4633	MYL2	HP:0001522	Death in infancy	13/13	OMIM:619424
4633	MYL2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2020
4633	MYL2	HP:0012378	Fatigue	HP:0040282	ORPHA:2020
4633	MYL2	HP:0005216	Impaired mastication	HP:0040283	ORPHA:2020
4633	MYL2	HP:0006543	Cardiorespiratory arrest	2/4	OMIM:619424
4633	MYL2	HP:0001609	Hoarse voice	HP:0040283	ORPHA:2020
4633	MYL2	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:2020
4633	MYL2	HP:0001670	Asymmetric septal hypertrophy	2/7	OMIM:608758
4633	MYL2	HP:0001685	Myocardial fibrosis	1/1	OMIM:619424
4633	MYL2	HP:0000347	Micrognathia	HP:0040283	ORPHA:2020
4633	MYL2	HP:0001648	Cor pulmonale	HP:0040283	ORPHA:2020
4633	MYL2	HP:0001645	Sudden cardiac death	2/7	OMIM:608758
4633	MYL2	HP:0001644	Dilated cardiomyopathy	7/13	OMIM:619424
4633	MYL2	HP:0030149	Cardiogenic shock	2/4	OMIM:619424
4633	MYL2	HP:0001663	Ventricular fibrillation	1/7	OMIM:608758
4633	MYL2	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:2020
4633	MYL2	HP:0001653	Mitral regurgitation	2/4	OMIM:619424
4633	MYL2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2020
4633	MYL2	HP:0001639	Hypertrophic cardiomyopathy	6/13	OMIM:619424
4633	MYL2	HP:0001639	Hypertrophic cardiomyopathy	4/4	OMIM:608758
4633	MYL2	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:2020
4633	MYL2	HP:0031656	Systolic anterior motion of the mitral valve	8/16	OMIM:608758
4633	MYL2	HP:0001723	Restrictive cardiomyopathy	2/13	OMIM:619424
4633	MYL2	HP:0001712	Left ventricular hypertrophy	13/16	OMIM:608758
4633	MYL2	HP:0012416	Hypercapnia	HP:0040283	ORPHA:2020
4633	MYL2	HP:0012418	Hypoxemia	HP:0040283	ORPHA:2020
4633	MYL2	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:2020
4633	MYL2	HP:0001761	Pes cavus	HP:0040283	ORPHA:2020
4633	MYL2	HP:0001824	Weight loss	HP:0040282	ORPHA:2020
4633	MYL2	HP:0000508	Ptosis	1/13	OMIM:619424
4634	MYL3	HP:0010872	T-wave inversion	1/1	OMIM:608751
4634	MYL3	HP:0000007	Autosomal recessive inheritance	-	OMIM:608751
4634	MYL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:608751
4634	MYL3	HP:0031295	Left atrial enlargement	1/2	OMIM:608751
4634	MYL3	HP:0003621	Juvenile onset	3/3	OMIM:608751
4634	MYL3	HP:0001962	Palpitations	-	OMIM:608751
4634	MYL3	HP:0012664	Reduced left ventricular ejection fraction	0/1	OMIM:608751
4634	MYL3	HP:0002875	Exertional dyspnea	-	OMIM:608751
4634	MYL3	HP:0001695	Cardiac arrest	-	OMIM:608751
4634	MYL3	HP:0001645	Sudden cardiac death	-	OMIM:608751
4634	MYL3	HP:0001663	Ventricular fibrillation	-	OMIM:608751
4634	MYL3	HP:0001639	Hypertrophic cardiomyopathy	13/13	OMIM:608751
4634	MYL3	HP:0001635	Congestive heart failure	HP:0040283	OMIM:608751
4634	MYL3	HP:0006685	Endocardial fibrosis	-	OMIM:608751
4634	MYL3	HP:0001723	Restrictive cardiomyopathy	-	OMIM:608751
4634	MYL3	HP:0001712	Left ventricular hypertrophy	3/3	OMIM:608751
4635	MYL4	HP:0001279	Syncope	HP:0040282	ORPHA:334
4635	MYL4	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
4635	MYL4	HP:0000006	Autosomal dominant inheritance	-	OMIM:617280
4635	MYL4	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
4635	MYL4	HP:0011705	First degree atrioventricular block	3/6	OMIM:617280
4635	MYL4	HP:0004757	Paroxysmal atrial fibrillation	2/6	OMIM:617280
4635	MYL4	HP:0004754	Permanent atrial fibrillation	3/6	OMIM:617280
4635	MYL4	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
4635	MYL4	HP:0100749	Chest pain	HP:0040282	ORPHA:334
4635	MYL4	HP:0002321	Vertigo	HP:0040282	ORPHA:334
4635	MYL4	HP:0001962	Palpitations	HP:0040282	ORPHA:334
4635	MYL4	HP:0001962	Palpitations	3/6	OMIM:617280
4635	MYL4	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
4635	MYL4	HP:0011462	Young adult onset	5/5	OMIM:617280
4635	MYL4	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
4635	MYL4	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
4635	MYL4	HP:0012378	Fatigue	HP:0040282	ORPHA:334
4635	MYL4	HP:0001664	Torsade de pointes	1/46	OMIM:115000
4635	MYL4	HP:0001645	Sudden cardiac death	-	OMIM:115000
4635	MYL4	HP:0001663	Ventricular fibrillation	-	OMIM:115000
4635	MYL4	HP:0001662	Bradycardia	1/6	OMIM:617280
4635	MYL4	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
4635	MYL4	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
4635	MYL4	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
4635	MYL4	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
4635	MYL4	HP:0001709	Third degree atrioventricular block	1/6	OMIM:617280
4638	MYLK	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
4638	MYLK	HP:0010956	Fetal megacystis	-	OMIM:249210
4638	MYLK	HP:0001297	Stroke	HP:0040283	ORPHA:91387
4638	MYLK	HP:0100806	Sepsis	HP:0040283	ORPHA:2241
4638	MYLK	HP:0002566	Intestinal malrotation	-	OMIM:249210
4638	MYLK	HP:0002566	Intestinal malrotation	HP:0040282	ORPHA:2241
4638	MYLK	HP:0007430	Generalized edema	-	OMIM:249210
4638	MYLK	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
4638	MYLK	HP:0000072	Hydroureter	-	OMIM:249210
4638	MYLK	HP:0000072	Hydroureter	HP:0040282	ORPHA:2241
4638	MYLK	HP:0000021	Megacystis	HP:0040281	ORPHA:2241
4638	MYLK	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
4638	MYLK	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
4638	MYLK	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2241
4638	MYLK	HP:0000007	Autosomal recessive inheritance	-	OMIM:249210
4638	MYLK	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:2241
4638	MYLK	HP:0000006	Autosomal dominant inheritance	-	OMIM:613780
4638	MYLK	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
4638	MYLK	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
4638	MYLK	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
4638	MYLK	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
4638	MYLK	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
4638	MYLK	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:2241
4638	MYLK	HP:0100544	Neoplasm of the heart	HP:0040283	ORPHA:2241
4638	MYLK	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
4638	MYLK	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
4638	MYLK	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
4638	MYLK	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
4638	MYLK	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
4638	MYLK	HP:0100771	Hypoperistalsis	HP:0040281	ORPHA:2241
4638	MYLK	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
4638	MYLK	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
4638	MYLK	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
4638	MYLK	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
4638	MYLK	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
4638	MYLK	HP:0004933	Ascending aortic dissection	3/5	OMIM:613780
4638	MYLK	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
4638	MYLK	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
4638	MYLK	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
4638	MYLK	HP:0004942	Aortic aneurysm	-	OMIM:613780
4638	MYLK	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2241
4638	MYLK	HP:0004388	Microcolon	HP:0040281	ORPHA:2241
4638	MYLK	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
4638	MYLK	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
4638	MYLK	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
4638	MYLK	HP:0003270	Abdominal distention	HP:0040281	ORPHA:2241
4638	MYLK	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
4638	MYLK	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
4638	MYLK	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
4638	MYLK	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
4638	MYLK	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
4638	MYLK	HP:0001562	Oligohydramnios	-	OMIM:249210
4638	MYLK	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:2241
4638	MYLK	HP:0001522	Death in infancy	HP:0040283	ORPHA:2241
4638	MYLK	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2241
4638	MYLK	HP:0001539	Omphalocele	HP:0040283	ORPHA:2241
4638	MYLK	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
4638	MYLK	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040282	ORPHA:2241
4638	MYLK	HP:0001699	Sudden death	1/17	OMIM:613780
4638	MYLK	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
4638	MYLK	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
4638	MYLK	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
4638	MYLK	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
4638	MYLK	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
4638	MYLK	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
4638	MYLK	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
4638	MYLK	HP:0012499	Descending aortic dissection	2/17	OMIM:613780
4638	MYLK	HP:0031649	Aortic rupture	2/5	OMIM:613780
4638	MYLK	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
4638	MYLK	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
4638	MYLK	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
4640	MYO1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:607841
4640	MYO1A	HP:0000407	Sensorineural hearing impairment	-	OMIM:607841
4643	MYO1E	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
4643	MYO1E	HP:0003774	Stage 5 chronic kidney disease	1/5	OMIM:614131
4643	MYO1E	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
4643	MYO1E	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
4643	MYO1E	HP:0000097	Focal segmental glomerulosclerosis	4/4	OMIM:614131
4643	MYO1E	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
4643	MYO1E	HP:0000093	Proteinuria	4/4	OMIM:614131
4643	MYO1E	HP:0000092	Renal tubular atrophy	1/2	OMIM:614131
4643	MYO1E	HP:0000007	Autosomal recessive inheritance	-	OMIM:614131
4643	MYO1E	HP:0000100	Nephrotic syndrome	2/2	OMIM:614131
4643	MYO1E	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
4643	MYO1E	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
4643	MYO1E	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
4643	MYO1E	HP:0003676	Progressive	-	OMIM:614131
4643	MYO1E	HP:0002315	Headache	HP:0040283	ORPHA:656
4643	MYO1E	HP:0003621	Juvenile onset	1/4	OMIM:614131
4643	MYO1E	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
4643	MYO1E	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
4643	MYO1E	HP:0001945	Fever	HP:0040283	ORPHA:656
4643	MYO1E	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
4643	MYO1E	HP:0003073	Hypoalbuminemia	2/2	OMIM:614131
4643	MYO1E	HP:0000737	Irritability	HP:0040283	ORPHA:656
4643	MYO1E	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
4643	MYO1E	HP:0011463	Childhood onset	3/4	OMIM:614131
4643	MYO1E	HP:0000790	Hematuria	2/2	OMIM:614131
4643	MYO1E	HP:0000969	Edema	HP:0040281	ORPHA:656
4643	MYO1E	HP:0000969	Edema	2/2	OMIM:614131
4643	MYO1E	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
4643	MYO1E	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
4644	MYO5A	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:79476
4644	MYO5A	HP:0001276	Hypertonia	HP:0040283	ORPHA:33445
4644	MYO5A	HP:0001276	Hypertonia	HP:0040281	ORPHA:79476
4644	MYO5A	HP:0001250	Seizure	HP:0040281	ORPHA:79476
4644	MYO5A	HP:0001250	Seizure	HP:0040281	ORPHA:33445
4644	MYO5A	HP:0001250	Seizure	12/12	OMIM:214450
4644	MYO5A	HP:0001252	Hypotonia	HP:0040281	ORPHA:33445
4644	MYO5A	HP:0001252	Hypotonia	2/5	OMIM:214450
4644	MYO5A	HP:0001251	Ataxia	HP:0040283	ORPHA:33445
4644	MYO5A	HP:0001251	Ataxia	HP:0040281	ORPHA:79476
4644	MYO5A	HP:0001249	Intellectual disability	HP:0040282	ORPHA:79476
4644	MYO5A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:33445
4644	MYO5A	HP:0001249	Intellectual disability	-	OMIM:214450
4644	MYO5A	HP:0001263	Global developmental delay	HP:0040282	ORPHA:79476
4644	MYO5A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:33445
4644	MYO5A	HP:0001263	Global developmental delay	3/5	OMIM:214450
4644	MYO5A	HP:0001257	Spasticity	HP:0040283	ORPHA:33445
4644	MYO5A	HP:0007440	Generalized hyperpigmentation	HP:0040283	ORPHA:33445
4644	MYO5A	HP:0007443	Partial albinism	HP:0040281	ORPHA:79476
4644	MYO5A	HP:0007443	Partial albinism	HP:0040283	ORPHA:79478
4644	MYO5A	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:79476
4644	MYO5A	HP:0001328	Specific learning disability	HP:0040281	ORPHA:33445
4644	MYO5A	HP:0000007	Autosomal recessive inheritance	-	OMIM:214450
4644	MYO5A	HP:0001337	Tremor	HP:0040282	ORPHA:33445
4644	MYO5A	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:33445
4644	MYO5A	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:33445
4644	MYO5A	HP:0002063	Rigidity	HP:0040283	ORPHA:33445
4644	MYO5A	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:33445
4644	MYO5A	HP:0003593	Infantile onset	3/3	OMIM:214450
4644	MYO5A	HP:0003552	Muscle stiffness	HP:0040283	ORPHA:33445
4644	MYO5A	HP:0002220	Melanin pigment aggregation in hair shafts	3/3	OMIM:214450
4644	MYO5A	HP:0002218	Silver-gray hair	7/7	OMIM:214450
4644	MYO5A	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:33445
4644	MYO5A	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:79476
4644	MYO5A	HP:0002227	White eyelashes	2/2	OMIM:214450
4644	MYO5A	HP:0002226	White eyebrow	2/2	OMIM:214450
4644	MYO5A	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:33445
4644	MYO5A	HP:0001010	Hypopigmentation of the skin	HP:0040281	ORPHA:33445
4644	MYO5A	HP:0001010	Hypopigmentation of the skin	6/7	OMIM:214450
4644	MYO5A	HP:0001008	Accumulation of melanosomes in melanocytes	11/12	OMIM:214450
4644	MYO5A	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040283	ORPHA:33445
4644	MYO5A	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:33445
4644	MYO5A	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:79478
4644	MYO5A	HP:0000639	Nystagmus	HP:0040283	ORPHA:33445
4644	MYO5A	HP:0000639	Nystagmus	HP:0040281	ORPHA:79476
4644	MYO5A	HP:0000651	Diplopia	HP:0040281	ORPHA:79476
4644	MYO5A	HP:0000648	Optic atrophy	HP:0040283	ORPHA:33445
4644	MYO5A	HP:0011364	White hair	HP:0040281	ORPHA:79476
4644	MYO5A	HP:0003077	Hyperlipidemia	HP:0040282	ORPHA:79476
4644	MYO5A	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:79476
4644	MYO5A	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:33445
4644	MYO5A	HP:0100308	Cerebral cortical hemiatrophy	HP:0040283	ORPHA:33445
4644	MYO5A	HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	4/4	OMIM:214450
4644	MYO5A	HP:0008059	Aplasia/Hypoplasia of the macula	HP:0040283	ORPHA:33445
4644	MYO5A	HP:0007754	Macular dystrophy	HP:0040283	ORPHA:33445
4644	MYO5A	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:79476
4644	MYO5A	HP:0007730	Iris hypopigmentation	HP:0040283	ORPHA:79478
4644	MYO5A	HP:0000486	Strabismus	HP:0040283	ORPHA:33445
4644	MYO5A	HP:0000488	Retinopathy	HP:0040281	ORPHA:79476
4644	MYO5A	HP:0011110	Recurrent tonsillitis	1/2	OMIM:214450
4644	MYO5A	HP:0000587	Abnormal optic nerve morphology	HP:0040283	ORPHA:33445
4644	MYO5A	HP:0000545	Myopia	HP:0040282	ORPHA:33445
4645	MYO5B	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2290
4645	MYO5B	HP:0000007	Autosomal recessive inheritance	-	OMIM:251850
4645	MYO5B	HP:0000007	Autosomal recessive inheritance	-	OMIM:619868
4645	MYO5B	HP:0000121	Nephrocalcinosis	HP:0040282	ORPHA:2290
4645	MYO5B	HP:0002014	Diarrhea	HP:0040282	ORPHA:2290
4645	MYO5B	HP:0030948	Elevated gamma-glutamyltransferase level	0/5	OMIM:619868
4645	MYO5B	HP:0003593	Infantile onset	3/5	OMIM:619868
4645	MYO5B	HP:0003573	Increased total bilirubin	5/5	OMIM:619868
4645	MYO5B	HP:0002242	Abnormal intestine morphology	-	OMIM:251850
4645	MYO5B	HP:0002240	Hepatomegaly	4/5	OMIM:619868
4645	MYO5B	HP:0011985	Acholic stools	1/5	OMIM:619868
4645	MYO5B	HP:0003623	Neonatal onset	11/11	OMIM:251850
4645	MYO5B	HP:0001944	Dehydration	HP:0040282	ORPHA:2290
4645	MYO5B	HP:0001944	Dehydration	-	OMIM:251850
4645	MYO5B	HP:0001942	Metabolic acidosis	HP:0040282	ORPHA:2290
4645	MYO5B	HP:0004322	Short stature	1/5	OMIM:619868
4645	MYO5B	HP:0031956	Elevated circulating aspartate aminotransferase concentration	5/5	OMIM:619868
4645	MYO5B	HP:0031964	Elevated circulating alanine aminotransferase concentration	4/5	OMIM:619868
4645	MYO5B	HP:0003073	Hypoalbuminemia	2/4	OMIM:619868
4645	MYO5B	HP:0004385	Protracted diarrhea	11/11	OMIM:251850
4645	MYO5B	HP:0004395	Malnutrition	-	OMIM:251850
4645	MYO5B	HP:0011473	Villous atrophy	HP:0040282	ORPHA:2290
4645	MYO5B	HP:0011473	Villous atrophy	-	OMIM:251850
4645	MYO5B	HP:0011472	Abnormal small intestinal villus morphology	HP:0040282	ORPHA:2290
4645	MYO5B	HP:0011463	Childhood onset	2/5	OMIM:619868
4645	MYO5B	HP:0003124	Hypercholesterolemia	1/4	OMIM:619868
4645	MYO5B	HP:0003270	Abdominal distention	HP:0040282	ORPHA:2290
4645	MYO5B	HP:0000989	Pruritus	HP:0040282	ORPHA:2290
4645	MYO5B	HP:0000989	Pruritus	3/5	OMIM:619868
4645	MYO5B	HP:0000952	Jaundice	4/5	OMIM:619868
4645	MYO5B	HP:0012202	Increased serum bile acid concentration	4/4	OMIM:619868
4645	MYO5B	HP:0012211	Abnormal renal physiology	HP:0040282	ORPHA:2290
4645	MYO5B	HP:0001522	Death in infancy	-	OMIM:251850
4645	MYO5B	HP:0001508	Failure to thrive	1/5	OMIM:619868
4645	MYO5B	HP:0001510	Growth delay	-	OMIM:251850
4645	MYO5B	HP:0006580	Portal fibrosis	2/3	OMIM:619868
4645	MYO5B	HP:0002908	Conjugated hyperbilirubinemia	4/4	OMIM:619868
4645	MYO5B	HP:0011106	Hypovolemia	HP:0040282	ORPHA:2290
4645	MYO5B	HP:0001744	Splenomegaly	1/5	OMIM:619868
4646	MYO6	HP:0000007	Autosomal recessive inheritance	-	OMIM:607821
4646	MYO6	HP:0000006	Autosomal dominant inheritance	-	OMIM:606346
4646	MYO6	HP:0007642	Congenital stationary night blindness	1/6	OMIM:607821
4646	MYO6	HP:0003577	Congenital onset	6/6	OMIM:607821
4646	MYO6	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:606346
4646	MYO6	HP:0000407	Sensorineural hearing impairment	6/6	OMIM:607821
4646	MYO6	HP:0000407	Sensorineural hearing impairment	-	OMIM:606346
4646	MYO6	HP:0001751	Abnormal vestibular function	1/6	OMIM:607821
4646	MYO6	HP:0000510	Rod-cone dystrophy	1/6	OMIM:607821
4647	MYO7A	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
4647	MYO7A	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:601317
4647	MYO7A	HP:0008555	Absent vestibular function	-	OMIM:276900
4647	MYO7A	HP:0001270	Motor delay	-	OMIM:276900
4647	MYO7A	HP:0001251	Ataxia	HP:0040283	ORPHA:231178
4647	MYO7A	HP:0001251	Ataxia	HP:0040281	ORPHA:231169
4647	MYO7A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:231169
4647	MYO7A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:231169
4647	MYO7A	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:231178
4647	MYO7A	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:231169
4647	MYO7A	HP:0000007	Autosomal recessive inheritance	-	OMIM:276900
4647	MYO7A	HP:0000007	Autosomal recessive inheritance	-	OMIM:600060
4647	MYO7A	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
4647	MYO7A	HP:0000006	Autosomal dominant inheritance	-	OMIM:601317
4647	MYO7A	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
4647	MYO7A	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:231169
4647	MYO7A	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:231178
4647	MYO7A	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
4647	MYO7A	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
4647	MYO7A	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:231178
4647	MYO7A	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:231169
4647	MYO7A	HP:0003593	Infantile onset	1/1	OMIM:276900
4647	MYO7A	HP:0003577	Congenital onset	-	OMIM:600060
4647	MYO7A	HP:0100753	Schizophrenia	HP:0040283	ORPHA:231178
4647	MYO7A	HP:0100753	Schizophrenia	HP:0040282	ORPHA:231169
4647	MYO7A	HP:0002321	Vertigo	-	OMIM:601317
4647	MYO7A	HP:0002321	Vertigo	-	OMIM:600060
4647	MYO7A	HP:0008499	High hypermetropia	HP:0040282	ORPHA:231169
4647	MYO7A	HP:0003621	Juvenile onset	8/19	OMIM:180100
4647	MYO7A	HP:0000639	Nystagmus	1/1	OMIM:276900
4647	MYO7A	HP:0000639	Nystagmus	HP:0040283	ORPHA:231178
4647	MYO7A	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:231178
4647	MYO7A	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:231169
4647	MYO7A	HP:0000691	Microdontia	HP:0040283	ORPHA:231178
4647	MYO7A	HP:0000662	Nyctalopia	HP:0040281	ORPHA:231178
4647	MYO7A	HP:0000662	Nyctalopia	26/28	OMIM:180100
4647	MYO7A	HP:0000662	Nyctalopia	HP:0040281	ORPHA:231169
4647	MYO7A	HP:0000670	Carious teeth	HP:0040283	ORPHA:231178
4647	MYO7A	HP:0000738	Hallucinations	HP:0040283	ORPHA:231178
4647	MYO7A	HP:0000738	Hallucinations	HP:0040283	ORPHA:231169
4647	MYO7A	HP:0000739	Anxiety	HP:0040283	ORPHA:231178
4647	MYO7A	HP:0000739	Anxiety	HP:0040283	ORPHA:231169
4647	MYO7A	HP:0000716	Depression	HP:0040283	ORPHA:231178
4647	MYO7A	HP:0000716	Depression	HP:0040283	ORPHA:231169
4647	MYO7A	HP:0011463	Childhood onset	3/19	OMIM:180100
4647	MYO7A	HP:0011462	Young adult onset	8/19	OMIM:180100
4647	MYO7A	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
4647	MYO7A	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:231178
4647	MYO7A	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:231169
4647	MYO7A	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
4647	MYO7A	HP:0011073	Abnormality of dental color	HP:0040283	ORPHA:231178
4647	MYO7A	HP:0012377	Hemianopia	HP:0040281	ORPHA:231169
4647	MYO7A	HP:0012377	Hemianopia	HP:0040281	ORPHA:231178
4647	MYO7A	HP:0000359	Abnormality of the inner ear	HP:0040281	ORPHA:231178
4647	MYO7A	HP:0000375	Abnormal cochlea morphology	HP:0040281	ORPHA:231169
4647	MYO7A	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:276900
4647	MYO7A	HP:0000407	Sensorineural hearing impairment	-	OMIM:600060
4647	MYO7A	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:231178
4647	MYO7A	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:231169
4647	MYO7A	HP:0001751	Abnormal vestibular function	-	OMIM:601317
4647	MYO7A	HP:0001751	Abnormal vestibular function	-	OMIM:600060
4647	MYO7A	HP:0001756	Vestibular hyporeflexia	HP:0040281	ORPHA:231169
4647	MYO7A	HP:0000518	Cataract	HP:0040282	ORPHA:231178
4647	MYO7A	HP:0000518	Cataract	HP:0040282	ORPHA:231169
4647	MYO7A	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
4647	MYO7A	HP:0000510	Rod-cone dystrophy	1/1	OMIM:276900
4647	MYO7A	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:231178
4647	MYO7A	HP:0000512	Abnormal electroretinogram	1/1	OMIM:276900
4647	MYO7A	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:231169
4647	MYO7A	HP:0000575	Scotoma	HP:0040281	ORPHA:231169
4647	MYO7A	HP:0000575	Scotoma	5/18	OMIM:180100
4647	MYO7A	HP:0000575	Scotoma	HP:0040281	ORPHA:231178
4647	MYO7A	HP:0000572	Visual loss	1/1	OMIM:276900
4647	MYO7A	HP:0000572	Visual loss	HP:0040281	ORPHA:231178
4647	MYO7A	HP:0000572	Visual loss	HP:0040281	ORPHA:231169
4647	MYO7A	HP:0000550	Undetectable electroretinogram	-	OMIM:276900
4647	MYO7A	HP:0000543	Optic disc pallor	1/1	OMIM:180100
4647	MYO7A	HP:0000545	Myopia	-	OMIM:180100
4647	MYO7A	HP:0000545	Myopia	HP:0040282	ORPHA:231178
4649	MYO9A	HP:0002421	Poor head control	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:98914
4649	MYO9A	HP:0001270	Motor delay	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0001270	Motor delay	-	OMIM:618198
4649	MYO9A	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0001283	Bulbar palsy	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0001284	Areflexia	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0001250	Seizure	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0001252	Hypotonia	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0001251	Ataxia	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0001249	Intellectual disability	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0001265	Hyporeflexia	HP:0040284	ORPHA:98914
4649	MYO9A	HP:0002515	Waddling gait	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0001374	Congenital hip dislocation	HP:0040284	ORPHA:98914
4649	MYO9A	HP:0001382	Joint hypermobility	HP:0040284	ORPHA:98914
4649	MYO9A	HP:0001324	Muscle weakness	-	OMIM:618198
4649	MYO9A	HP:0000007	Autosomal recessive inheritance	-	OMIM:618198
4649	MYO9A	HP:0025401	Staring gaze	HP:0040284	ORPHA:98914
4649	MYO9A	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0002020	Gastroesophageal reflux	HP:0040284	ORPHA:98914
4649	MYO9A	HP:0002033	Poor suck	HP:0040281	ORPHA:98914
4649	MYO9A	HP:0004661	Frontalis muscle weakness	HP:0040281	ORPHA:98914
4649	MYO9A	HP:0003325	Limb-girdle muscle weakness	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0002015	Dysphagia	-	OMIM:618198
4649	MYO9A	HP:0002015	Dysphagia	HP:0040281	ORPHA:98914
4649	MYO9A	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0005943	Respiratory arrest	HP:0040284	ORPHA:98914
4649	MYO9A	HP:0002093	Respiratory insufficiency	-	OMIM:618198
4649	MYO9A	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0003473	Fatigable weakness	HP:0040281	ORPHA:98914
4649	MYO9A	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0002104	Apnea	-	OMIM:618198
4649	MYO9A	HP:0010536	Central sleep apnea	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0003577	Congenital onset	1/1	OMIM:618198
4649	MYO9A	HP:0004885	Episodic respiratory distress	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0040281	ORPHA:98914
4649	MYO9A	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:98914
4649	MYO9A	HP:0011968	Feeding difficulties	-	OMIM:618198
4649	MYO9A	HP:0002392	EEG with polyspike wave complexes	HP:0040284	ORPHA:98914
4649	MYO9A	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0008443	Neuropathic spinal arthropathy	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0007178	Motor polyneuropathy	HP:0040284	ORPHA:98914
4649	MYO9A	HP:0000639	Nystagmus	HP:0040284	ORPHA:98914
4649	MYO9A	HP:0000639	Nystagmus	-	OMIM:618198
4649	MYO9A	HP:0000651	Diplopia	HP:0040284	ORPHA:98914
4649	MYO9A	HP:0000602	Ophthalmoplegia	-	OMIM:618198
4649	MYO9A	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0000657	Oculomotor apraxia	-	OMIM:618198
4649	MYO9A	HP:0031936	Delayed ability to walk	-	OMIM:618198
4649	MYO9A	HP:0005684	Distal arthrogryposis	1/1	OMIM:618198
4649	MYO9A	HP:0000768	Pectus carinatum	HP:0040284	ORPHA:98914
4649	MYO9A	HP:0000750	Delayed speech and language development	-	OMIM:618198
4649	MYO9A	HP:0011469	Nasal regurgitation	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0012801	Narrow jaw	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0030842	Choking episodes	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0010307	Stridor	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0100285	EMG: impaired neuromuscular transmission	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0000961	Cyanosis	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0000276	Long face	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0006380	Knee flexion contracture	1/1	OMIM:618198
4649	MYO9A	HP:0002882	Sudden episodic apnea	HP:0040281	ORPHA:98914
4649	MYO9A	HP:0000218	High palate	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:98914
4649	MYO9A	HP:0001558	Decreased fetal movement	-	OMIM:618198
4649	MYO9A	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0002870	Obstructive sleep apnea	HP:0040284	ORPHA:98914
4649	MYO9A	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0012385	Camptodactyly	1/1	OMIM:618198
4649	MYO9A	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	-	ORPHA:98914
4649	MYO9A	HP:0001618	Dysphonia	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0001612	Weak cry	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:98914
4649	MYO9A	HP:0000369	Low-set ears	HP:0040284	ORPHA:98914
4649	MYO9A	HP:0000308	Microretrognathia	HP:0040284	ORPHA:98914
4649	MYO9A	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:98914
4649	MYO9A	HP:0000467	Neck muscle weakness	HP:0040281	ORPHA:98914
4649	MYO9A	HP:0001760	Abnormal foot morphology	-	OMIM:618198
4649	MYO9A	HP:0001762	Talipes equinovarus	1/1	OMIM:618198
4649	MYO9A	HP:0001761	Pes cavus	HP:0040283	ORPHA:98914
4649	MYO9A	HP:0000508	Ptosis	HP:0040281	ORPHA:98914
4649	MYO9A	HP:0000508	Ptosis	-	OMIM:618198
4649	MYO9A	HP:0000565	Esotropia	HP:0040284	ORPHA:98914
4653	MYOC	HP:0001138	Optic neuropathy	HP:0040282	ORPHA:98977
4653	MYOC	HP:0009926	Epiphora	HP:0040282	ORPHA:98976
4653	MYOC	HP:0012040	Corneal stromal edema	HP:0040281	ORPHA:98976
4653	MYOC	HP:0025326	Retinal arterial occlusion	HP:0040284	ORPHA:98977
4653	MYOC	HP:0000006	Autosomal dominant inheritance	-	OMIM:137750
4653	MYOC	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:98976
4653	MYOC	HP:0012108	Open angle glaucoma	HP:0040282	ORPHA:98977
4653	MYOC	HP:0001089	Iris atrophy	HP:0040282	ORPHA:98976
4653	MYOC	HP:0100693	Iridodonesis	HP:0040283	ORPHA:98976
4653	MYOC	HP:0000646	Amblyopia	HP:0040283	ORPHA:98976
4653	MYOC	HP:0000643	Blepharospasm	HP:0040282	ORPHA:98976
4653	MYOC	HP:0000613	Photophobia	HP:0040282	ORPHA:98976
4653	MYOC	HP:0000603	Central scotoma	HP:0040284	ORPHA:98977
4653	MYOC	HP:0012636	Retinal vein occlusion	HP:0040284	ORPHA:98977
4653	MYOC	HP:0011490	Abnormal Descemet membrane morphology	HP:0040282	ORPHA:98976
4653	MYOC	HP:0012796	Increased cup-to-disc ratio	HP:0040283	ORPHA:98977
4653	MYOC	HP:0012803	Anisometropia	HP:0040283	ORPHA:98976
4653	MYOC	HP:0007765	Deep anterior chamber	HP:0040282	ORPHA:98976
4653	MYOC	HP:0007854	Glaucomatous visual field defect	HP:0040282	ORPHA:98977
4653	MYOC	HP:0011003	High myopia	HP:0040283	ORPHA:98977
4653	MYOC	HP:0007957	Corneal opacity	HP:0040282	ORPHA:98976
4653	MYOC	HP:0007905	Abnormal iris vasculature	-	OMIM:137750
4653	MYOC	HP:0007906	Ocular hypertension	HP:0040282	ORPHA:98976
4653	MYOC	HP:0007906	Ocular hypertension	HP:0040282	ORPHA:98977
4653	MYOC	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:98977
4653	MYOC	HP:0000485	Megalocornea	HP:0040282	ORPHA:98976
4653	MYOC	HP:0025751	Reduced anterior scleral thickness	HP:0040282	ORPHA:98976
4653	MYOC	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:98977
4653	MYOC	HP:0000505	Visual impairment	HP:0040282	ORPHA:98977
4653	MYOC	HP:0000501	Glaucoma	-	OMIM:137750
4653	MYOC	HP:0000501	Glaucoma	HP:0040281	ORPHA:98976
4653	MYOC	HP:0000593	Abnormal anterior chamber morphology	HP:0040282	ORPHA:98977
4653	MYOC	HP:0000587	Abnormal optic nerve morphology	HP:0040282	ORPHA:98977
4653	MYOC	HP:0000557	Buphthalmos	HP:0040282	ORPHA:98976
4653	MYOC	HP:0000572	Visual loss	HP:0040283	ORPHA:98976
4653	MYOC	HP:0012511	Temporal optic disc pallor	HP:0040283	ORPHA:98977
4653	MYOC	HP:0000545	Myopia	-	OMIM:137750
4653	MYOC	HP:0000545	Myopia	HP:0040283	ORPHA:98976
4654	MYOD1	HP:0001188	Hand clenching	1/3	OMIM:618975
4654	MYOD1	HP:0001182	Tapered finger	1/3	OMIM:618975
4654	MYOD1	HP:0009891	Underdeveloped supraorbital ridges	1/1	OMIM:618975
4654	MYOD1	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:994
4654	MYOD1	HP:0001290	Generalized hypotonia	1/1	OMIM:618975
4654	MYOD1	HP:0001270	Motor delay	2/2	OMIM:618975
4654	MYOD1	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:994
4654	MYOD1	HP:0000089	Renal hypoplasia	1/1	OMIM:618975
4654	MYOD1	HP:0000074	Ureteropelvic junction obstruction	1/3	OMIM:618975
4654	MYOD1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:994
4654	MYOD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618975
4654	MYOD1	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:994
4654	MYOD1	HP:0002650	Scoliosis	HP:0040282	ORPHA:994
4654	MYOD1	HP:0000175	Cleft palate	HP:0040282	ORPHA:994
4654	MYOD1	HP:0000175	Cleft palate	3/3	OMIM:618975
4654	MYOD1	HP:0000126	Hydronephrosis	1/3	OMIM:618975
4654	MYOD1	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:994
4654	MYOD1	HP:0002089	Pulmonary hypoplasia	0/1	OMIM:618975
4654	MYOD1	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:994
4654	MYOD1	HP:0002093	Respiratory insufficiency	1/1	OMIM:618975
4654	MYOD1	HP:0010489	Absent palmar crease	HP:0040281	ORPHA:994
4654	MYOD1	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:994
4654	MYOD1	HP:0010557	Overlapping fingers	1/1	OMIM:618975
4654	MYOD1	HP:0011947	Respiratory tract infection	1/1	OMIM:618975
4654	MYOD1	HP:0001059	Pterygium	HP:0040283	ORPHA:994
4654	MYOD1	HP:0002375	Hypokinesia	HP:0040281	ORPHA:994
4654	MYOD1	HP:0010804	Tented upper lip vermilion	1/1	OMIM:618975
4654	MYOD1	HP:0002304	Akinesia	HP:0040281	ORPHA:994
4654	MYOD1	HP:0000689	Dental malocclusion	1/1	OMIM:618975
4654	MYOD1	HP:0001989	Fetal akinesia sequence	HP:0040281	ORPHA:994
4654	MYOD1	HP:0001989	Fetal akinesia sequence	-	OMIM:618975
4654	MYOD1	HP:0005684	Distal arthrogryposis	1/1	OMIM:618975
4654	MYOD1	HP:0000767	Pectus excavatum	1/1	OMIM:618975
4654	MYOD1	HP:0000774	Narrow chest	1/1	OMIM:618975
4654	MYOD1	HP:0009110	Diaphragmatic eventration	1/3	OMIM:618975
4654	MYOD1	HP:0003198	Myopathy	2/2	OMIM:618975
4654	MYOD1	HP:0012801	Narrow jaw	1/1	OMIM:618975
4654	MYOD1	HP:0002828	Multiple joint contractures	HP:0040281	ORPHA:994
4654	MYOD1	HP:0030084	Clinodactyly	1/1	OMIM:618975
4654	MYOD1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:994
4654	MYOD1	HP:0000218	High palate	1/1	OMIM:618975
4654	MYOD1	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:994
4654	MYOD1	HP:0001561	Polyhydramnios	1/1	OMIM:618975
4654	MYOD1	HP:0001531	Failure to thrive in infancy	1/1	OMIM:618975
4654	MYOD1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:994
4654	MYOD1	HP:0005245	Intestinal hypoplasia	HP:0040283	ORPHA:994
4654	MYOD1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:994
4654	MYOD1	HP:0000369	Low-set ears	1/1	OMIM:618975
4654	MYOD1	HP:0000341	Narrow forehead	1/3	OMIM:618975
4654	MYOD1	HP:0000343	Long philtrum	1/3	OMIM:618975
4654	MYOD1	HP:0000348	High forehead	1/3	OMIM:618975
4654	MYOD1	HP:0000347	Micrognathia	HP:0040281	ORPHA:994
4654	MYOD1	HP:0000319	Smooth philtrum	1/1	OMIM:618975
4654	MYOD1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:994
4654	MYOD1	HP:0000331	Short chin	2/3	OMIM:618975
4654	MYOD1	HP:0000325	Triangular face	2/2	OMIM:618975
4654	MYOD1	HP:0000303	Mandibular prognathia	1/1	OMIM:618975
4654	MYOD1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:994
4654	MYOD1	HP:0000476	Cystic hygroma	HP:0040282	ORPHA:994
4654	MYOD1	HP:0000476	Cystic hygroma	2/3	OMIM:618975
4654	MYOD1	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:618975
4654	MYOD1	HP:0001845	Overlapping toe	2/3	OMIM:618975
4654	MYOD1	HP:0000520	Proptosis	1/1	OMIM:618975
4654	MYOD1	HP:0000506	Telecanthus	1/1	OMIM:618975
4654	MYOD1	HP:0000508	Ptosis	1/1	OMIM:618975
4654	MYOD1	HP:0000565	Esotropia	1/1	OMIM:618975
4659	PPP1R12A	HP:0001159	Syndactyly	1/12	OMIM:618820
4659	PPP1R12A	HP:0010941	Aplasia of the nasal bone	1/12	OMIM:618820
4659	PPP1R12A	HP:0003762	Uterus didelphys	1/8	OMIM:618820
4659	PPP1R12A	HP:0001274	Agenesis of corpus callosum	1/12	OMIM:618820
4659	PPP1R12A	HP:0001263	Global developmental delay	7/12	OMIM:618820
4659	PPP1R12A	HP:0008665	Clitoral hypertrophy	1/8	OMIM:618820
4659	PPP1R12A	HP:0000041	Chordee	2/4	OMIM:618820
4659	PPP1R12A	HP:0000054	Micropenis	1/4	OMIM:618820
4659	PPP1R12A	HP:0001387	Joint stiffness	1/12	OMIM:618820
4659	PPP1R12A	HP:0000047	Hypospadias	4/4	OMIM:618820
4659	PPP1R12A	HP:0001360	Holoprosencephaly	2/12	OMIM:618820
4659	PPP1R12A	HP:0000028	Cryptorchidism	3/4	OMIM:618820
4659	PPP1R12A	HP:0001331	Absent septum pellucidum	1/12	OMIM:618820
4659	PPP1R12A	HP:0000006	Autosomal dominant inheritance	-	OMIM:618820
4659	PPP1R12A	HP:0000133	Gonadal dysgenesis	-	OMIM:618820
4659	PPP1R12A	HP:0002751	Kyphoscoliosis	1/12	OMIM:618820
4659	PPP1R12A	HP:0010464	Streak ovary	2/8	OMIM:618820
4659	PPP1R12A	HP:0002126	Polymicrogyria	1/12	OMIM:618820
4659	PPP1R12A	HP:0100779	Urogenital sinus anomaly	2/8	OMIM:618820
4659	PPP1R12A	HP:0002282	Gray matter heterotopia	1/12	OMIM:618820
4659	PPP1R12A	HP:0007018	Attention deficit hyperactivity disorder	1/12	OMIM:618820
4659	PPP1R12A	HP:0002308	Chiari malformation	1/12	OMIM:618820
4659	PPP1R12A	HP:0006989	Dysplastic corpus callosum	1/12	OMIM:618820
4659	PPP1R12A	HP:0012745	Short palpebral fissure	1/12	OMIM:618820
4659	PPP1R12A	HP:0003196	Short nose	1/12	OMIM:618820
4659	PPP1R12A	HP:0030716	Acrania	1/12	OMIM:618820
4659	PPP1R12A	HP:0000286	Epicanthus	1/12	OMIM:618820
4659	PPP1R12A	HP:0000256	Macrocephaly	1/12	OMIM:618820
4659	PPP1R12A	HP:0000276	Long face	1/12	OMIM:618820
4659	PPP1R12A	HP:0001539	Omphalocele	1/12	OMIM:618820
4659	PPP1R12A	HP:0030048	Colpocephaly	1/12	OMIM:618820
4659	PPP1R12A	HP:0012368	Flat face	1/12	OMIM:618820
4659	PPP1R12A	HP:0005235	Jejunal atresia	1/12	OMIM:618820
4659	PPP1R12A	HP:0000356	Abnormality of the outer ear	1/12	OMIM:618820
4659	PPP1R12A	HP:0000369	Low-set ears	1/12	OMIM:618820
4659	PPP1R12A	HP:0000343	Long philtrum	1/12	OMIM:618820
4659	PPP1R12A	HP:0000347	Micrognathia	1/12	OMIM:618820
4659	PPP1R12A	HP:0000316	Hypertelorism	2/12	OMIM:618820
4659	PPP1R12A	HP:0000483	Astigmatism	1/12	OMIM:618820
4659	PPP1R12A	HP:0000486	Strabismus	2/12	OMIM:618820
4659	PPP1R12A	HP:0011102	Ileal atresia	1/12	OMIM:618820
4659	PPP1R12A	HP:0000411	Protruding ear	1/12	OMIM:618820
4659	PPP1R12A	HP:0005484	Secondary microcephaly	1/12	OMIM:618820
4659	PPP1R12A	HP:0000508	Ptosis	1/12	OMIM:618820
4659	PPP1R12A	HP:0000505	Visual impairment	1/12	OMIM:618820
4659	PPP1R12A	HP:0000582	Upslanted palpebral fissure	1/12	OMIM:618820
4659	PPP1R12A	HP:0000540	Hypermetropia	1/12	OMIM:618820
4659	PPP1R12A	HP:0000537	Epicanthus inversus	1/12	OMIM:618820
4665	NAB2	HP:0002585	Abnormal peritoneum morphology	HP:0040284	ORPHA:2126
4665	NAB2	HP:0008775	Abnormal prostate morphology	HP:0040284	ORPHA:2126
4665	NAB2	HP:0000016	Urinary retention	HP:0040284	ORPHA:2126
4665	NAB2	HP:0002664	Neoplasm	HP:0040283	ORPHA:2126
4665	NAB2	HP:0012125	Prostate cancer	HP:0040284	ORPHA:2126
4665	NAB2	HP:0002019	Constipation	HP:0040284	ORPHA:2126
4665	NAB2	HP:0100527	Neoplasia of the pleura	HP:0040283	ORPHA:2126
4665	NAB2	HP:0100526	Neoplasm of the lung	HP:0040284	ORPHA:2126
4665	NAB2	HP:0003419	Low back pain	HP:0040284	ORPHA:2126
4665	NAB2	HP:0100650	Vaginal neoplasm	HP:0040284	ORPHA:2126
4665	NAB2	HP:0010784	Uterine neoplasm	HP:0040284	ORPHA:2126
4665	NAB2	HP:0010787	Genital neoplasm	HP:0040283	ORPHA:2126
4665	NAB2	HP:0004912	Hypophosphatemic rickets	HP:0040284	ORPHA:2126
4665	NAB2	HP:0007185	Loss of consciousness	HP:0040284	ORPHA:2126
4665	NAB2	HP:0000651	Diplopia	HP:0040284	ORPHA:2126
4665	NAB2	HP:0001943	Hypoglycemia	HP:0040284	ORPHA:2126
4665	NAB2	HP:0001945	Fever	HP:0040284	ORPHA:2126
4665	NAB2	HP:0001988	Recurrent hypoglycemia	HP:0040284	ORPHA:2126
4665	NAB2	HP:0004375	Neoplasm of the nervous system	HP:0040284	ORPHA:2126
4665	NAB2	HP:0030795	Reduced C-peptide level	HP:0040284	ORPHA:2126
4665	NAB2	HP:0040216	Hypoinsulinemia	HP:0040284	ORPHA:2126
4665	NAB2	HP:0045026	Abnormal mediastinum morphology	HP:0040284	ORPHA:2126
4665	NAB2	HP:0000290	Abnormal forehead morphology	HP:0040284	ORPHA:2126
4665	NAB2	HP:0002896	Neoplasm of the liver	HP:0040284	ORPHA:2126
4665	NAB2	HP:0031501	Pelvic mass	HP:0040284	ORPHA:2126
4665	NAB2	HP:0012378	Fatigue	HP:0040283	ORPHA:2126
4665	NAB2	HP:0031459	Soft tissue neoplasm	HP:0040283	ORPHA:2126
4665	NAB2	HP:0030166	Night sweats	HP:0040284	ORPHA:2126
4665	NAB2	HP:0001824	Weight loss	HP:0040283	ORPHA:2126
4668	NAGA	HP:0002460	Distal muscle weakness	-	OMIM:609242
4668	NAGA	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:79279
4668	NAGA	HP:0010864	Intellectual disability, severe	-	OMIM:609241
4668	NAGA	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:79279
4668	NAGA	HP:0003700	Generalized amyotrophy	-	OMIM:609241
4668	NAGA	HP:0003700	Generalized amyotrophy	HP:0040281	ORPHA:79279
4668	NAGA	HP:0001290	Generalized hypotonia	-	OMIM:609241
4668	NAGA	HP:0001256	Intellectual disability, mild	1/1	OMIM:609242
4668	NAGA	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:79280
4668	NAGA	HP:0001250	Seizure	-	OMIM:609241
4668	NAGA	HP:0001250	Seizure	HP:0040281	ORPHA:79281
4668	NAGA	HP:0001250	Seizure	HP:0040281	ORPHA:79279
4668	NAGA	HP:0001252	Hypotonia	-	OMIM:609241
4668	NAGA	HP:0001252	Hypotonia	HP:0040281	ORPHA:79279
4668	NAGA	HP:0001249	Intellectual disability	HP:0040281	ORPHA:79281
4668	NAGA	HP:0001263	Global developmental delay	-	OMIM:609241
4668	NAGA	HP:0001263	Global developmental delay	HP:0040281	ORPHA:79281
4668	NAGA	HP:0001263	Global developmental delay	HP:0040281	ORPHA:79279
4668	NAGA	HP:0001257	Spasticity	-	OMIM:609241
4668	NAGA	HP:0001257	Spasticity	HP:0040281	ORPHA:79279
4668	NAGA	HP:0007428	Telangiectasia of the oral mucosa	HP:0040281	ORPHA:79280
4668	NAGA	HP:0007428	Telangiectasia of the oral mucosa	-	OMIM:609242
4668	NAGA	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:79279
4668	NAGA	HP:0032325	Lacunar stroke	1/1	OMIM:609242
4668	NAGA	HP:0001347	Hyperreflexia	-	OMIM:609241
4668	NAGA	HP:0001324	Muscle weakness	HP:0040281	ORPHA:79279
4668	NAGA	HP:0000007	Autosomal recessive inheritance	-	OMIM:609241
4668	NAGA	HP:0000007	Autosomal recessive inheritance	-	OMIM:609242
4668	NAGA	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
4668	NAGA	HP:0001336	Myoclonus	-	OMIM:609241
4668	NAGA	HP:0001336	Myoclonus	HP:0040282	ORPHA:79279
4668	NAGA	HP:0002619	Varicose veins	-	OMIM:153400
4668	NAGA	HP:0000179	Thick lower lip vermilion	-	OMIM:609242
4668	NAGA	HP:0000175	Cleft palate	5/39	OMIM:153400
4668	NAGA	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:79280
4668	NAGA	HP:0003355	Aminoaciduria	-	OMIM:609242
4668	NAGA	HP:0100543	Cognitive impairment	-	OMIM:609242
4668	NAGA	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:79279
4668	NAGA	HP:0002059	Cerebral atrophy	-	OMIM:609242
4668	NAGA	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:79280
4668	NAGA	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:79279
4668	NAGA	HP:0003477	Peripheral axonal neuropathy	-	OMIM:609242
4668	NAGA	HP:0003461	Increased urinary O-linked sialopeptides	-	OMIM:609241
4668	NAGA	HP:0003461	Increased urinary O-linked sialopeptides	-	OMIM:609242
4668	NAGA	HP:0003409	Distal sensory impairment of all modalities	-	OMIM:609242
4668	NAGA	HP:0003401	Paresthesia	HP:0040283	ORPHA:79279
4668	NAGA	HP:0003593	Infantile onset	-	OMIM:609241
4668	NAGA	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:79281
4668	NAGA	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:79279
4668	NAGA	HP:0100704	Cerebral visual impairment	-	OMIM:609241
4668	NAGA	HP:0100704	Cerebral visual impairment	HP:0040281	ORPHA:79279
4668	NAGA	HP:0003581	Adult onset	-	OMIM:609242
4668	NAGA	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
4668	NAGA	HP:0009743	Distichiasis	42/42	OMIM:153400
4668	NAGA	HP:0002363	Abnormal brainstem morphology	HP:0040281	ORPHA:79279
4668	NAGA	HP:0002376	Developmental regression	-	OMIM:609241
4668	NAGA	HP:0002376	Developmental regression	HP:0040281	ORPHA:79279
4668	NAGA	HP:0001009	Telangiectasia	HP:0040282	ORPHA:79279
4668	NAGA	HP:0001004	Lymphedema	HP:0040282	ORPHA:79280
4668	NAGA	HP:0001004	Lymphedema	-	OMIM:609242
4668	NAGA	HP:0001004	Lymphedema	-	OMIM:153400
4668	NAGA	HP:0001004	Lymphedema	HP:0040283	ORPHA:79279
4668	NAGA	HP:0002321	Vertigo	HP:0040281	ORPHA:79280
4668	NAGA	HP:0002321	Vertigo	-	OMIM:609242
4668	NAGA	HP:0002321	Vertigo	HP:0040282	ORPHA:79279
4668	NAGA	HP:0100658	Cellulitis	2/6	OMIM:153400
4668	NAGA	HP:0200034	Papule	HP:0040281	ORPHA:79280
4668	NAGA	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:79280
4668	NAGA	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:79279
4668	NAGA	HP:0001071	Angiokeratoma corporis diffusum	HP:0040281	ORPHA:79280
4668	NAGA	HP:0001071	Angiokeratoma corporis diffusum	1/1	OMIM:609242
4668	NAGA	HP:0006812	White mater abnormalities in the posterior periventricular region	-	OMIM:609242
4668	NAGA	HP:0000639	Nystagmus	-	OMIM:609241
4668	NAGA	HP:0000639	Nystagmus	HP:0040282	ORPHA:79279
4668	NAGA	HP:0000648	Optic atrophy	-	OMIM:609241
4668	NAGA	HP:0000648	Optic atrophy	HP:0040282	ORPHA:79279
4668	NAGA	HP:0000613	Photophobia	10/49	OMIM:153400
4668	NAGA	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
4668	NAGA	HP:0000656	Ectropion	2/43	OMIM:153400
4668	NAGA	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:79279
4668	NAGA	HP:0003011	Abnormality of the musculature	-	OMIM:153400
4668	NAGA	HP:0000763	Sensory neuropathy	HP:0040282	ORPHA:79279
4668	NAGA	HP:0000717	Autism	HP:0040281	ORPHA:79281
4668	NAGA	HP:0000717	Autism	HP:0040282	ORPHA:79279
4668	NAGA	HP:4000202	Reduced tissue alpha-N-acetylgalactosaminidase activity	-	OMIM:609241
4668	NAGA	HP:0012804	Corneal ulceration	-	OMIM:153400
4668	NAGA	HP:0040078	Axonal degeneration	-	OMIM:609242
4668	NAGA	HP:0010310	Chylothorax	1/6	OMIM:153400
4668	NAGA	HP:0000958	Dry skin	-	OMIM:609242
4668	NAGA	HP:0000967	Petechiae	1/1	OMIM:609242
4668	NAGA	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:79280
4668	NAGA	HP:0000962	Hyperkeratosis	-	OMIM:609242
4668	NAGA	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:79279
4668	NAGA	HP:0000938	Osteopenia	-	OMIM:609241
4668	NAGA	HP:0011675	Arrhythmia	-	OMIM:153400
4668	NAGA	HP:0000280	Coarse facial features	HP:0040282	ORPHA:79280
4668	NAGA	HP:0000280	Coarse facial features	-	OMIM:609242
4668	NAGA	HP:0007759	Opacification of the corneal stroma	HP:0040282	ORPHA:79280
4668	NAGA	HP:0002808	Kyphosis	2/5	OMIM:153400
4668	NAGA	HP:0000214	Lip telangiectasia	HP:0040281	ORPHA:79280
4668	NAGA	HP:0000214	Lip telangiectasia	-	OMIM:609242
4668	NAGA	HP:0000204	Cleft upper lip	-	OMIM:153400
4668	NAGA	HP:0002936	Distal sensory impairment	-	OMIM:609242
4668	NAGA	HP:0000365	Hearing impairment	HP:0040282	ORPHA:79280
4668	NAGA	HP:0000365	Hearing impairment	HP:0040281	ORPHA:79279
4668	NAGA	HP:0000360	Tinnitus	HP:0040282	ORPHA:79280
4668	NAGA	HP:0000347	Micrognathia	2/5	OMIM:153400
4668	NAGA	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
4668	NAGA	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
4668	NAGA	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:79280
4668	NAGA	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:79281
4668	NAGA	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:79279
4668	NAGA	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
4668	NAGA	HP:0000407	Sensorineural hearing impairment	-	OMIM:609242
4668	NAGA	HP:0005280	Depressed nasal bridge	-	OMIM:609242
4668	NAGA	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:79280
4668	NAGA	HP:0000486	Strabismus	-	OMIM:609241
4668	NAGA	HP:0000486	Strabismus	HP:0040281	ORPHA:79281
4668	NAGA	HP:0000486	Strabismus	HP:0040282	ORPHA:79279
4668	NAGA	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:79280
4668	NAGA	HP:0000476	Cystic hygroma	2/43	OMIM:153400
4668	NAGA	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
4668	NAGA	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
4668	NAGA	HP:0000465	Webbed neck	6/43	OMIM:153400
4668	NAGA	HP:0025710	Late young adult onset	1/1	OMIM:609242
4668	NAGA	HP:0000518	Cataract	HP:0040281	ORPHA:79281
4668	NAGA	HP:0000509	Conjunctivitis	-	OMIM:153400
4668	NAGA	HP:0000508	Ptosis	2/39	OMIM:153400
4668	NAGA	HP:0000503	Tortuosity of conjunctival vessels	1/1	OMIM:609242
4668	NAGA	HP:0000568	Microphthalmia	1/6	OMIM:153400
4669	NAGLU	HP:0002495	Impaired vibratory sensation	12/21	OMIM:616491
4669	NAGLU	HP:0010871	Sensory ataxia	9/21	OMIM:616491
4669	NAGLU	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4669	NAGLU	HP:0001293	Cranial nerve compression	-	OMIM:131300
4669	NAGLU	HP:0001250	Seizure	-	OMIM:252920
4669	NAGLU	HP:0001252	Hypotonia	2/7	OMIM:615777
4669	NAGLU	HP:0001249	Intellectual disability	16/16	OMIM:252920
4669	NAGLU	HP:0001249	Intellectual disability	5/7	OMIM:615777
4669	NAGLU	HP:0001265	Hyporeflexia	10/21	OMIM:616491
4669	NAGLU	HP:0001263	Global developmental delay	-	OMIM:615777
4669	NAGLU	HP:0002515	Waddling gait	54/102	OMIM:131300
4669	NAGLU	HP:0001387	Joint stiffness	-	OMIM:252920
4669	NAGLU	HP:0001382	Joint hypermobility	-	OMIM:615777
4669	NAGLU	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4669	NAGLU	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4669	NAGLU	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4669	NAGLU	HP:0001324	Muscle weakness	0/21	OMIM:616491
4669	NAGLU	HP:0001324	Muscle weakness	40/96	OMIM:131300
4669	NAGLU	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4669	NAGLU	HP:0000007	Autosomal recessive inheritance	-	OMIM:252920
4669	NAGLU	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4669	NAGLU	HP:0000006	Autosomal dominant inheritance	-	OMIM:616491
4669	NAGLU	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4669	NAGLU	HP:0002650	Scoliosis	12/14	OMIM:131300
4669	NAGLU	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4669	NAGLU	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4669	NAGLU	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4669	NAGLU	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4669	NAGLU	HP:0000175	Cleft palate	2/7	OMIM:615777
4669	NAGLU	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:252920
4669	NAGLU	HP:0002014	Diarrhea	-	OMIM:252920
4669	NAGLU	HP:0003309	Ovoid thoracolumbar vertebrae	-	OMIM:252920
4669	NAGLU	HP:0003388	Easy fatigability	36/76	OMIM:131300
4669	NAGLU	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4669	NAGLU	HP:0002159	Heparan sulfate excretion in urine	-	OMIM:252920
4669	NAGLU	HP:0003401	Paresthesia	-	OMIM:616491
4669	NAGLU	HP:0003596	Middle age onset	6/18	OMIM:616491
4669	NAGLU	HP:0002240	Hepatomegaly	-	OMIM:252920
4669	NAGLU	HP:0003584	Late onset	8/18	OMIM:616491
4669	NAGLU	HP:0002208	Coarse hair	-	OMIM:252920
4669	NAGLU	HP:6000360	Reduced tissue alpha-N-acetylglucosaminidase activity	7/7	OMIM:252920
4669	NAGLU	HP:0003510	Severe short stature	7/7	OMIM:615777
4669	NAGLU	HP:0002360	Sleep abnormality	16/19	OMIM:616491
4669	NAGLU	HP:0002360	Sleep abnormality	-	OMIM:252920
4669	NAGLU	HP:0002344	Progressive neurologic deterioration	-	OMIM:252920
4669	NAGLU	HP:0003676	Progressive	-	OMIM:616491
4669	NAGLU	HP:0001007	Hirsutism	-	OMIM:252920
4669	NAGLU	HP:0002315	Headache	-	OMIM:131300
4669	NAGLU	HP:0004976	Knee dislocation	6/7	OMIM:615777
4669	NAGLU	HP:0009830	Peripheral neuropathy	-	OMIM:616491
4669	NAGLU	HP:0009803	Short phalanx of finger	-	OMIM:615777
4669	NAGLU	HP:0009763	Limb pain	63/92	OMIM:131300
4669	NAGLU	HP:0003621	Juvenile onset	8/16	OMIM:252920
4669	NAGLU	HP:0003621	Juvenile onset	-	OMIM:131300
4669	NAGLU	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4669	NAGLU	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4669	NAGLU	HP:0000639	Nystagmus	0/17	OMIM:616491
4669	NAGLU	HP:6001056	Out-toeing	-	OMIM:131300
4669	NAGLU	HP:0000651	Diplopia	-	OMIM:131300
4669	NAGLU	HP:0001956	Truncal obesity	2/7	OMIM:615777
4669	NAGLU	HP:0001903	Anemia	HP:0040283	OMIM:131300
4669	NAGLU	HP:0010049	Short metacarpal	-	OMIM:615777
4669	NAGLU	HP:0000678	Dental crowding	-	OMIM:615777
4669	NAGLU	HP:0000670	Carious teeth	-	OMIM:131300
4669	NAGLU	HP:0011304	Broad thumb	2/7	OMIM:615777
4669	NAGLU	HP:0000668	Hypodontia	-	OMIM:615777
4669	NAGLU	HP:0000664	Synophrys	-	OMIM:615777
4669	NAGLU	HP:0000664	Synophrys	-	OMIM:252920
4669	NAGLU	HP:0004396	Poor appetite	-	OMIM:131300
4669	NAGLU	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4669	NAGLU	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4669	NAGLU	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4669	NAGLU	HP:0003026	Short long bone	7/7	OMIM:615777
4669	NAGLU	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4669	NAGLU	HP:0000752	Hyperactivity	-	OMIM:252920
4669	NAGLU	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4669	NAGLU	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4669	NAGLU	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4669	NAGLU	HP:0000750	Delayed speech and language development	-	OMIM:615777
4669	NAGLU	HP:0000718	Aggressive behavior	-	OMIM:252920
4669	NAGLU	HP:0011463	Childhood onset	8/16	OMIM:252920
4669	NAGLU	HP:0011462	Young adult onset	4/18	OMIM:616491
4669	NAGLU	HP:0011461	Fetal onset	7/7	OMIM:615777
4669	NAGLU	HP:0000774	Narrow chest	2/7	OMIM:615777
4669	NAGLU	HP:0000926	Platyspondyly	1/7	OMIM:615777
4669	NAGLU	HP:0003180	Flat acetabular roof	-	OMIM:615777
4669	NAGLU	HP:0000900	Thickened ribs	-	OMIM:252920
4669	NAGLU	HP:0004482	Relative macrocephaly	-	OMIM:615777
4669	NAGLU	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4669	NAGLU	HP:0000823	Delayed puberty	-	OMIM:131300
4669	NAGLU	HP:0000894	Short clavicles	-	OMIM:615777
4669	NAGLU	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4669	NAGLU	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4669	NAGLU	HP:0000943	Dysostosis multiplex	16/16	OMIM:252920
4669	NAGLU	HP:0000286	Epicanthus	1/7	OMIM:615777
4669	NAGLU	HP:0000280	Coarse facial features	2/7	OMIM:615777
4669	NAGLU	HP:0000280	Coarse facial features	-	OMIM:252920
4669	NAGLU	HP:0002827	Hip dislocation	3/7	OMIM:615777
4669	NAGLU	HP:0000252	Microcephaly	-	OMIM:615777
4669	NAGLU	HP:0000250	Dense calvaria	-	OMIM:252920
4669	NAGLU	HP:0002857	Genu valgum	-	OMIM:131300
4669	NAGLU	HP:0001533	Slender build	-	OMIM:131300
4669	NAGLU	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4669	NAGLU	HP:0007807	Optic nerve compression	-	OMIM:131300
4669	NAGLU	HP:0012368	Flat face	7/7	OMIM:615777
4669	NAGLU	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4669	NAGLU	HP:0002936	Distal sensory impairment	-	OMIM:616491
4669	NAGLU	HP:0000365	Hearing impairment	-	OMIM:252920
4669	NAGLU	HP:0000365	Hearing impairment	10/67	OMIM:131300
4669	NAGLU	HP:0000343	Long philtrum	1/7	OMIM:615777
4669	NAGLU	HP:0001670	Asymmetric septal hypertrophy	-	OMIM:252920
4669	NAGLU	HP:0011001	Increased bone mineral density	-	OMIM:131300
4669	NAGLU	HP:0000311	Round face	2/7	OMIM:615777
4669	NAGLU	HP:0001640	Cardiomegaly	-	OMIM:252920
4669	NAGLU	HP:0002970	Genu varum	-	OMIM:615777
4669	NAGLU	HP:0000303	Mandibular prognathia	-	OMIM:131300
4669	NAGLU	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4669	NAGLU	HP:0000470	Short neck	1/7	OMIM:615777
4669	NAGLU	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4669	NAGLU	HP:0001763	Pes planus	1/7	OMIM:615777
4669	NAGLU	HP:0001744	Splenomegaly	-	OMIM:252920
4669	NAGLU	HP:0001840	Metatarsus adductus	-	OMIM:615777
4669	NAGLU	HP:0000520	Proptosis	2/4	OMIM:131300
4669	NAGLU	HP:0000520	Proptosis	7/7	OMIM:615777
4669	NAGLU	HP:0000592	Blue sclerae	2/7	OMIM:615777
4669	NAGLU	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4669	NAGLU	HP:0012514	Lower limb pain	4/4	OMIM:131300
4669	NAGLU	HP:0012514	Lower limb pain	20/20	OMIM:616491
4677	NARS1	HP:0001166	Arachnodactyly	2/8	OMIM:619092
4677	NARS1	HP:0001159	Syndactyly	1/22	OMIM:619091
4677	NARS1	HP:0001159	Syndactyly	1/8	OMIM:619092
4677	NARS1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	14/24	OMIM:619091
4677	NARS1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	5/8	OMIM:619092
4677	NARS1	HP:0001290	Generalized hypotonia	7/17	OMIM:619091
4677	NARS1	HP:0001290	Generalized hypotonia	3/7	OMIM:619092
4677	NARS1	HP:0001276	Hypertonia	1/17	OMIM:619091
4677	NARS1	HP:0001276	Hypertonia	4/7	OMIM:619092
4677	NARS1	HP:0001251	Ataxia	7/7	OMIM:619092
4677	NARS1	HP:0001249	Intellectual disability	24/24	OMIM:619091
4677	NARS1	HP:0001249	Intellectual disability	8/8	OMIM:619092
4677	NARS1	HP:0001265	Hyporeflexia	10/15	OMIM:619091
4677	NARS1	HP:0001265	Hyporeflexia	3/7	OMIM:619092
4677	NARS1	HP:0001263	Global developmental delay	24/24	OMIM:619091
4677	NARS1	HP:0001263	Global developmental delay	8/8	OMIM:619092
4677	NARS1	HP:0007359	Focal-onset seizure	2/24	OMIM:619091
4677	NARS1	HP:0007359	Focal-onset seizure	3/8	OMIM:619092
4677	NARS1	HP:0001371	Flexion contracture	1/22	OMIM:619091
4677	NARS1	HP:0025336	Delayed ability to sit	10/14	OMIM:619091
4677	NARS1	HP:0025336	Delayed ability to sit	5/6	OMIM:619092
4677	NARS1	HP:0001347	Hyperreflexia	1/15	OMIM:619091
4677	NARS1	HP:0001347	Hyperreflexia	4/7	OMIM:619092
4677	NARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619091
4677	NARS1	HP:0001337	Tremor	2/8	OMIM:619092
4677	NARS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619092
4677	NARS1	HP:0001336	Myoclonus	1/8	OMIM:619092
4677	NARS1	HP:0001302	Pachygyria	1/10	OMIM:619091
4677	NARS1	HP:0002650	Scoliosis	1/22	OMIM:619091
4677	NARS1	HP:0002066	Gait ataxia	4/7	OMIM:619092
4677	NARS1	HP:0002079	Hypoplasia of the corpus callosum	1/10	OMIM:619091
4677	NARS1	HP:0002188	Delayed CNS myelination	2/10	OMIM:619091
4677	NARS1	HP:0002265	Large fleshy ears	1/8	OMIM:619092
4677	NARS1	HP:0003593	Infantile onset	18/24	OMIM:619091
4677	NARS1	HP:0003577	Congenital onset	6/24	OMIM:619091
4677	NARS1	HP:0003577	Congenital onset	8/8	OMIM:619092
4677	NARS1	HP:0100702	Arachnoid cyst	1/10	OMIM:619091
4677	NARS1	HP:0010830	Impaired tactile sensation	5/12	OMIM:619091
4677	NARS1	HP:0010830	Impaired tactile sensation	2/4	OMIM:619092
4677	NARS1	HP:0009830	Peripheral neuropathy	5/17	OMIM:619091
4677	NARS1	HP:0009830	Peripheral neuropathy	3/5	OMIM:619092
4677	NARS1	HP:0000601	Hypotelorism	1/22	OMIM:619091
4677	NARS1	HP:0000687	Widely spaced teeth	2/8	OMIM:619092
4677	NARS1	HP:0031936	Delayed ability to walk	19/19	OMIM:619091
4677	NARS1	HP:0031936	Delayed ability to walk	7/8	OMIM:619092
4677	NARS1	HP:0000767	Pectus excavatum	1/8	OMIM:619092
4677	NARS1	HP:0000733	Motor stereotypy	2/8	OMIM:619092
4677	NARS1	HP:0000750	Delayed speech and language development	22/24	OMIM:619091
4677	NARS1	HP:0000750	Delayed speech and language development	8/8	OMIM:619092
4677	NARS1	HP:0012766	Widened cerebral subarachnoid space	1/8	OMIM:619092
4677	NARS1	HP:0000278	Retrognathia	1/8	OMIM:619092
4677	NARS1	HP:0030084	Clinodactyly	3/22	OMIM:619091
4677	NARS1	HP:0030084	Clinodactyly	2/8	OMIM:619092
4677	NARS1	HP:0000252	Microcephaly	24/24	OMIM:619091
4677	NARS1	HP:0000252	Microcephaly	6/8	OMIM:619092
4677	NARS1	HP:0000396	Overfolded helix	1/8	OMIM:619092
4677	NARS1	HP:0002942	Thoracic kyphosis	1/8	OMIM:619092
4677	NARS1	HP:0000369	Low-set ears	2/8	OMIM:619092
4677	NARS1	HP:0000337	Broad forehead	1/8	OMIM:619092
4677	NARS1	HP:0032794	Myoclonic seizure	1/24	OMIM:619091
4677	NARS1	HP:0032794	Myoclonic seizure	2/8	OMIM:619092
4677	NARS1	HP:0000316	Hypertelorism	1/8	OMIM:619092
4677	NARS1	HP:0012444	Brain atrophy	1/8	OMIM:619092
4677	NARS1	HP:0012430	Cerebral white matter hypoplasia	1/10	OMIM:619091
4677	NARS1	HP:0001761	Pes cavus	1/8	OMIM:619092
4677	NARS1	HP:0000582	Upslanted palpebral fissure	4/8	OMIM:619092
4680	CEACAM6	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
4680	CEACAM6	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
4680	CEACAM6	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
4680	CEACAM6	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
4680	CEACAM6	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
4680	CEACAM6	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
4680	CEACAM6	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
4680	CEACAM6	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
4680	CEACAM6	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
4680	CEACAM6	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
4680	CEACAM6	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
4680	CEACAM6	HP:0002099	Asthma	HP:0040283	ORPHA:586
4680	CEACAM6	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
4680	CEACAM6	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
4680	CEACAM6	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
4680	CEACAM6	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
4680	CEACAM6	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
4680	CEACAM6	HP:0000739	Anxiety	HP:0040283	ORPHA:586
4680	CEACAM6	HP:0000716	Depression	HP:0040283	ORPHA:586
4680	CEACAM6	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
4680	CEACAM6	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
4680	CEACAM6	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
4680	CEACAM6	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
4680	CEACAM6	HP:0003251	Male infertility	HP:0040282	ORPHA:586
4680	CEACAM6	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
4680	CEACAM6	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
4680	CEACAM6	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
4680	CEACAM6	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
4680	CEACAM6	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
4680	CEACAM6	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
4680	CEACAM6	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
4680	CEACAM6	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
4680	CEACAM6	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
4680	CEACAM6	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
4680	CEACAM6	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
4683	NBN	HP:0002488	Acute leukemia	HP:0040283	ORPHA:647
4683	NBN	HP:0001268	Mental deterioration	HP:0040281	ORPHA:647
4683	NBN	HP:0001249	Intellectual disability	-	OMIM:251260
4683	NBN	HP:0010982	Polygenic inheritance	-	OMIM:613065
4683	NBN	HP:0010976	Decreased total B cell count	-	OMIM:251260
4683	NBN	HP:0002664	Neoplasm	HP:0040282	ORPHA:647
4683	NBN	HP:0001324	Muscle weakness	HP:0040283	ORPHA:647
4683	NBN	HP:0000010	Recurrent urinary tract infections	3/11	OMIM:251260
4683	NBN	HP:0000007	Autosomal recessive inheritance	-	OMIM:251260
4683	NBN	HP:0002665	Lymphoma	-	OMIM:251260
4683	NBN	HP:0002665	Lymphoma	HP:0040283	ORPHA:647
4683	NBN	HP:0012190	T-cell lymphoma	HP:0040283	ORPHA:647
4683	NBN	HP:0012191	B-cell lymphoma	HP:0040283	ORPHA:647
4683	NBN	HP:0000175	Cleft palate	HP:0040283	ORPHA:647
4683	NBN	HP:0000175	Cleft palate	-	OMIM:251260
4683	NBN	HP:0012125	Prostate cancer	HP:0040283	ORPHA:145
4683	NBN	HP:0001480	Freckling	HP:0040283	ORPHA:647
4683	NBN	HP:0000126	Hydronephrosis	-	OMIM:251260
4683	NBN	HP:0001442	Typified by somatic mosaicism	-	OMIM:613065
4683	NBN	HP:0002025	Anal stenosis	-	OMIM:251260
4683	NBN	HP:0002025	Anal stenosis	HP:0040281	ORPHA:647
4683	NBN	HP:0002023	Anal atresia	-	OMIM:251260
4683	NBN	HP:0002023	Anal atresia	HP:0040281	ORPHA:647
4683	NBN	HP:0004691	2-3 toe syndactyly	5/11	OMIM:251260
4683	NBN	HP:0002028	Chronic diarrhea	HP:0040281	ORPHA:647
4683	NBN	HP:0002002	Deep philtrum	2/11	OMIM:251260
4683	NBN	HP:0002002	Deep philtrum	HP:0040281	ORPHA:647
4683	NBN	HP:0002014	Diarrhea	-	OMIM:251260
4683	NBN	HP:0100515	Pollakisuria	HP:0040282	ORPHA:647
4683	NBN	HP:0004798	Recurrent infection of the gastrointestinal tract	-	OMIM:251260
4683	NBN	HP:0002110	Bronchiectasis	2/11	OMIM:251260
4683	NBN	HP:0002180	Neurodegeneration	-	OMIM:251260
4683	NBN	HP:0008209	Premature ovarian insufficiency	-	OMIM:251260
4683	NBN	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:647
4683	NBN	HP:0003577	Congenital onset	-	OMIM:251260
4683	NBN	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:647
4683	NBN	HP:0009733	Glioma	-	OMIM:251260
4683	NBN	HP:0009733	Glioma	HP:0040283	ORPHA:647
4683	NBN	HP:0007018	Attention deficit hyperactivity disorder	HP:0040281	ORPHA:647
4683	NBN	HP:0010620	Malar prominence	-	OMIM:251260
4683	NBN	HP:0100615	Ovarian neoplasm	HP:0040281	ORPHA:145
4683	NBN	HP:0005528	Bone marrow hypocellularity	-	OMIM:609135
4683	NBN	HP:0001915	Aplastic anemia	HP:0040280	OMIM:609135
4683	NBN	HP:0011362	Abnormal hair quantity	HP:0040281	ORPHA:647
4683	NBN	HP:0004322	Short stature	HP:0040281	ORPHA:647
4683	NBN	HP:0004322	Short stature	-	OMIM:251260
4683	NBN	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:145
4683	NBN	HP:0004326	Cachexia	HP:0040281	ORPHA:647
4683	NBN	HP:0005602	Progressive vitiligo	-	OMIM:251260
4683	NBN	HP:0003011	Abnormality of the musculature	HP:0040283	ORPHA:647
4683	NBN	HP:0000752	Hyperactivity	-	OMIM:251260
4683	NBN	HP:0012732	Anorectal anomaly	HP:0040281	ORPHA:647
4683	NBN	HP:0000750	Delayed speech and language development	-	OMIM:251260
4683	NBN	HP:0003189	Long nose	-	OMIM:251260
4683	NBN	HP:0100335	Non-midline cleft of the upper lip	HP:0040283	ORPHA:647
4683	NBN	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:647
4683	NBN	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:647
4683	NBN	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:647
4683	NBN	HP:0000957	Cafe-au-lait spot	-	OMIM:251260
4683	NBN	HP:0000286	Epicanthus	2/11	OMIM:251260
4683	NBN	HP:0000278	Retrognathia	HP:0040281	ORPHA:647
4683	NBN	HP:0000294	Low anterior hairline	HP:0040281	ORPHA:647
4683	NBN	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:647
4683	NBN	HP:0000265	Mastoiditis	-	OMIM:251260
4683	NBN	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:647
4683	NBN	HP:0000252	Microcephaly	HP:0040281	ORPHA:647
4683	NBN	HP:0000252	Microcephaly	11/11	OMIM:251260
4683	NBN	HP:0000246	Sinusitis	-	OMIM:251260
4683	NBN	HP:0002878	Respiratory failure	HP:0040283	ORPHA:647
4683	NBN	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:145
4683	NBN	HP:0002885	Medulloblastoma	-	OMIM:251260
4683	NBN	HP:0002861	Melanoma	HP:0040283	ORPHA:145
4683	NBN	HP:0002859	Rhabdomyosarcoma	-	OMIM:251260
4683	NBN	HP:0002859	Rhabdomyosarcoma	HP:0040283	ORPHA:647
4683	NBN	HP:0000204	Cleft upper lip	-	OMIM:251260
4683	NBN	HP:0002837	Recurrent bronchitis	6/11	OMIM:251260
4683	NBN	HP:0001511	Intrauterine growth retardation	-	OMIM:251260
4683	NBN	HP:0007814	Retinal pigment epithelial mottling	2/11	OMIM:251260
4683	NBN	HP:0011027	Abnormal fallopian tube morphology	HP:0040281	ORPHA:145
4683	NBN	HP:0006532	Recurrent pneumonia	6/11	OMIM:251260
4683	NBN	HP:0006532	Recurrent pneumonia	HP:0040281	ORPHA:647
4683	NBN	HP:0000364	Hearing abnormality	HP:0040281	ORPHA:647
4683	NBN	HP:0000340	Sloping forehead	21/21	OMIM:251260
4683	NBN	HP:0000340	Sloping forehead	HP:0040281	ORPHA:647
4683	NBN	HP:0000347	Micrognathia	11/11	OMIM:251260
4683	NBN	HP:0002961	Dysgammaglobulinemia	-	OMIM:251260
4683	NBN	HP:0000403	Recurrent otitis media	2/11	OMIM:251260
4683	NBN	HP:0000400	Macrotia	11/11	OMIM:251260
4683	NBN	HP:0000400	Macrotia	HP:0040281	ORPHA:647
4683	NBN	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:647
4683	NBN	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:647
4683	NBN	HP:0000470	Short neck	HP:0040281	ORPHA:647
4683	NBN	HP:0000453	Choanal atresia	-	OMIM:251260
4683	NBN	HP:0000448	Prominent nose	HP:0040281	ORPHA:647
4683	NBN	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:647
4683	NBN	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:647
4683	NBN	HP:0005425	Recurrent sinopulmonary infections	HP:0040281	ORPHA:647
4683	NBN	HP:0005403	Decreased total T cell count	-	OMIM:251260
4683	NBN	HP:0030406	Primary peritoneal carcinoma	HP:0040281	ORPHA:145
4683	NBN	HP:0006721	Acute lymphoblastic leukemia	-	OMIM:613065
4683	NBN	HP:0000524	Conjunctival telangiectasia	5/11	OMIM:251260
4683	NBN	HP:0001852	Sandal gap	7/11	OMIM:251260
4683	NBN	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:647
4683	NBN	HP:0000582	Upslanted palpebral fissure	11/11	OMIM:251260
4683	NBN	HP:0001890	Autoimmune hemolytic anemia	-	OMIM:251260
4683	NBN	HP:0001890	Autoimmune hemolytic anemia	HP:0040281	ORPHA:647
4683	NBN	HP:0001878	Hemolytic anemia	HP:0040281	ORPHA:647
4683	NBN	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:647
4683	NBN	HP:0001873	Thrombocytopenia	-	OMIM:251260
4688	NCF2	HP:0100806	Sepsis	HP:0040283	ORPHA:379
4688	NCF2	HP:0001287	Meningitis	HP:0040283	ORPHA:379
4688	NCF2	HP:0002586	Peritonitis	1/4	OMIM:233710
4688	NCF2	HP:0002575	Tracheoesophageal fistula	HP:0040281	ORPHA:379
4688	NCF2	HP:0007417	Discoid lupus rash	-	OMIM:233710
4688	NCF2	HP:0025289	Cervical lymphadenopathy	1/1	OMIM:233710
4688	NCF2	HP:0033608	Pulmonary nodule	1/1	OMIM:233710
4688	NCF2	HP:0000010	Recurrent urinary tract infections	1/7	OMIM:233710
4688	NCF2	HP:0000007	Autosomal recessive inheritance	-	OMIM:233710
4688	NCF2	HP:0002754	Osteomyelitis	1/7	OMIM:233710
4688	NCF2	HP:0002740	Recurrent E. coli infections	-	OMIM:233710
4688	NCF2	HP:0002741	Recurrent Serratia marcescens infections	-	OMIM:233710
4688	NCF2	HP:0002742	Recurrent Klebsiella infections	-	OMIM:233710
4688	NCF2	HP:0002719	Recurrent infections	2/2	OMIM:233710
4688	NCF2	HP:0002716	Lymphadenopathy	-	OMIM:233710
4688	NCF2	HP:0002726	Recurrent Staphylococcus aureus infections	-	OMIM:233710
4688	NCF2	HP:0002724	Recurrent Aspergillus infections	-	OMIM:233710
4688	NCF2	HP:0002722	Recurrent abscess formation	3/3	OMIM:233710
4688	NCF2	HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes	-	OMIM:233710
4688	NCF2	HP:0002721	Immunodeficiency	-	OMIM:233710
4688	NCF2	HP:0002024	Malabsorption	HP:0040281	ORPHA:379
4688	NCF2	HP:0002021	Pyloric stenosis	HP:0040281	ORPHA:379
4688	NCF2	HP:0002037	Inflammation of the large intestine	1/1	OMIM:233710
4688	NCF2	HP:0100523	Liver abscess	1/6	OMIM:233710
4688	NCF2	HP:0100523	Liver abscess	HP:0040283	ORPHA:379
4688	NCF2	HP:0100533	Inflammatory abnormality of the eye	HP:0040283	ORPHA:379
4688	NCF2	HP:0003593	Infantile onset	4/6	OMIM:233710
4688	NCF2	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:379
4688	NCF2	HP:0002240	Hepatomegaly	-	OMIM:233710
4688	NCF2	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:379
4688	NCF2	HP:0100721	Mediastinal lymphadenopathy	1/1	OMIM:233710
4688	NCF2	HP:0100721	Mediastinal lymphadenopathy	HP:0040281	ORPHA:379
4688	NCF2	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:379
4688	NCF2	HP:0100658	Cellulitis	-	OMIM:233710
4688	NCF2	HP:0025044	Lung abscess	1/7	OMIM:233710
4688	NCF2	HP:0200042	Skin ulcer	HP:0040283	ORPHA:379
4688	NCF2	HP:0009789	Perianal abscess	1/7	OMIM:233710
4688	NCF2	HP:0003621	Juvenile onset	-	OMIM:233710
4688	NCF2	HP:0034752	Axillary lymphadenopathy	1/1	OMIM:233710
4688	NCF2	HP:0009098	Chronic oral candidiasis	1/7	OMIM:233710
4688	NCF2	HP:0001945	Fever	HP:0040281	ORPHA:379
4688	NCF2	HP:0012733	Macule	HP:0040281	ORPHA:379
4688	NCF2	HP:0011463	Childhood onset	3/7	OMIM:233710
4688	NCF2	HP:0003206	Decreased activity of NADPH oxidase	-	OMIM:233710
4688	NCF2	HP:0003203	Decreased neutrophil oxidative burst	7/7	OMIM:233710
4688	NCF2	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:379
4688	NCF2	HP:0000964	Eczematoid dermatitis	-	OMIM:233710
4688	NCF2	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:379
4688	NCF2	HP:0000246	Sinusitis	HP:0040281	ORPHA:379
4688	NCF2	HP:0000230	Gingivitis	HP:0040283	ORPHA:379
4688	NCF2	HP:0002840	Lymphadenitis	-	OMIM:233710
4688	NCF2	HP:0001508	Failure to thrive	1/4	OMIM:233710
4688	NCF2	HP:0002842	Recurrent Burkholderia cepacia infections	-	OMIM:233710
4688	NCF2	HP:0006510	Chronic pulmonary obstruction	HP:0040281	ORPHA:379
4688	NCF2	HP:0000388	Otitis media	HP:0040281	ORPHA:379
4688	NCF2	HP:0005224	Rectal abscess	-	OMIM:233710
4688	NCF2	HP:0006532	Recurrent pneumonia	-	OMIM:233710
4688	NCF2	HP:0002955	Granulomatosis	-	OMIM:233710
4688	NCF2	HP:0001744	Splenomegaly	HP:0040283	ORPHA:379
4688	NCF2	HP:0001744	Splenomegaly	-	OMIM:233710
4688	NCF2	HP:0005406	Recurrent bacterial skin infections	1/7	OMIM:233710
4688	NCF2	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:379
4689	NCF4	HP:0100806	Sepsis	HP:0040283	ORPHA:379
4689	NCF4	HP:0001287	Meningitis	HP:0040283	ORPHA:379
4689	NCF4	HP:0002583	Colitis	1/1	OMIM:613960
4689	NCF4	HP:0002575	Tracheoesophageal fistula	HP:0040281	ORPHA:379
4689	NCF4	HP:0000007	Autosomal recessive inheritance	-	OMIM:613960
4689	NCF4	HP:0002719	Recurrent infections	-	OMIM:613960
4689	NCF4	HP:0002024	Malabsorption	HP:0040281	ORPHA:379
4689	NCF4	HP:0002021	Pyloric stenosis	HP:0040281	ORPHA:379
4689	NCF4	HP:0002027	Abdominal pain	1/1	OMIM:613960
4689	NCF4	HP:0002014	Diarrhea	1/1	OMIM:613960
4689	NCF4	HP:0100523	Liver abscess	HP:0040283	ORPHA:379
4689	NCF4	HP:0100533	Inflammatory abnormality of the eye	HP:0040283	ORPHA:379
4689	NCF4	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:379
4689	NCF4	HP:0003565	Elevated erythrocyte sedimentation rate	1/1	OMIM:613960
4689	NCF4	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:379
4689	NCF4	HP:0100721	Mediastinal lymphadenopathy	HP:0040281	ORPHA:379
4689	NCF4	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:379
4689	NCF4	HP:0200042	Skin ulcer	HP:0040283	ORPHA:379
4689	NCF4	HP:0001945	Fever	HP:0040281	ORPHA:379
4689	NCF4	HP:0012733	Macule	HP:0040281	ORPHA:379
4689	NCF4	HP:0011463	Childhood onset	1/1	OMIM:613960
4689	NCF4	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:379
4689	NCF4	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:379
4689	NCF4	HP:0000246	Sinusitis	HP:0040281	ORPHA:379
4689	NCF4	HP:0000230	Gingivitis	HP:0040283	ORPHA:379
4689	NCF4	HP:0006510	Chronic pulmonary obstruction	HP:0040281	ORPHA:379
4689	NCF4	HP:0000388	Otitis media	HP:0040281	ORPHA:379
4689	NCF4	HP:0005218	Anoperineal fistula	1/1	OMIM:613960
4689	NCF4	HP:0011127	Perioral eczema	1/1	OMIM:613960
4689	NCF4	HP:0011108	Recurrent sinusitis	-	OMIM:613960
4689	NCF4	HP:0011107	Recurrent aphthous stomatitis	1/1	OMIM:613960
4689	NCF4	HP:0001744	Splenomegaly	HP:0040283	ORPHA:379
4689	NCF4	HP:0011227	Elevated circulating C-reactive protein concentration	1/1	OMIM:613960
4689	NCF4	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:379
4692	NDN	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:177904
4692	NDN	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:177901
4692	NDN	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:98754
4692	NDN	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:98754
4692	NDN	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:177904
4692	NDN	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:177901
4692	NDN	HP:0001250	Seizure	HP:0040283	ORPHA:177904
4692	NDN	HP:0001250	Seizure	HP:0040283	ORPHA:177901
4692	NDN	HP:0001250	Seizure	HP:0040283	ORPHA:98754
4692	NDN	HP:0001252	Hypotonia	HP:0040282	ORPHA:177904
4692	NDN	HP:0001252	Hypotonia	HP:0040282	ORPHA:177901
4692	NDN	HP:0001252	Hypotonia	HP:0040282	ORPHA:98754
4692	NDN	HP:0002578	Gastroparesis	HP:0040283	ORPHA:177904
4692	NDN	HP:0002578	Gastroparesis	HP:0040283	ORPHA:177901
4692	NDN	HP:0002578	Gastroparesis	HP:0040283	ORPHA:98754
4692	NDN	HP:0002591	Polyphagia	HP:0040282	ORPHA:98754
4692	NDN	HP:0002591	Polyphagia	HP:0040281	ORPHA:177904
4692	NDN	HP:0002591	Polyphagia	HP:0040282	ORPHA:177901
4692	NDN	HP:0002591	Polyphagia	HP:0040282	ORPHA:177910
4692	NDN	HP:0001263	Global developmental delay	HP:0040283	ORPHA:177904
4692	NDN	HP:0001263	Global developmental delay	HP:0040282	ORPHA:177901
4692	NDN	HP:0001263	Global developmental delay	HP:0040282	ORPHA:177910
4692	NDN	HP:0001263	Global developmental delay	HP:0040283	ORPHA:98754
4692	NDN	HP:0008770	Obsessive-compulsive trait	HP:0040282	ORPHA:177904
4692	NDN	HP:0008770	Obsessive-compulsive trait	HP:0040282	ORPHA:177901
4692	NDN	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:177904
4692	NDN	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:177901
4692	NDN	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:98754
4692	NDN	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:177904
4692	NDN	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:177901
4692	NDN	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:98754
4692	NDN	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:177904
4692	NDN	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:177901
4692	NDN	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:98754
4692	NDN	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:177904
4692	NDN	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:177901
4692	NDN	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:177910
4692	NDN	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:98754
4692	NDN	HP:0000046	Small scrotum	HP:0040282	ORPHA:98754
4692	NDN	HP:0000046	Small scrotum	HP:0040282	ORPHA:177904
4692	NDN	HP:0000046	Small scrotum	HP:0040282	ORPHA:177901
4692	NDN	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:98754
4692	NDN	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:177904
4692	NDN	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:177901
4692	NDN	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:98754
4692	NDN	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:177904
4692	NDN	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:177901
4692	NDN	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:98754
4692	NDN	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:177904
4692	NDN	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:177901
4692	NDN	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:177910
4692	NDN	HP:0031169	Postterm pregnancy	HP:0040283	ORPHA:177904
4692	NDN	HP:0031169	Postterm pregnancy	HP:0040283	ORPHA:177901
4692	NDN	HP:0031169	Postterm pregnancy	HP:0040282	ORPHA:98754
4692	NDN	HP:0001328	Specific learning disability	HP:0040282	ORPHA:98754
4692	NDN	HP:0001328	Specific learning disability	HP:0040282	ORPHA:177904
4692	NDN	HP:0001328	Specific learning disability	HP:0040282	ORPHA:177901
4692	NDN	HP:0002650	Scoliosis	HP:0040282	ORPHA:98754
4692	NDN	HP:0002650	Scoliosis	HP:0040282	ORPHA:177904
4692	NDN	HP:0002650	Scoliosis	HP:0040282	ORPHA:177901
4692	NDN	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:177910
4692	NDN	HP:0031100	Decreased circulating inhibin B concentration	HP:0040283	ORPHA:177904
4692	NDN	HP:0031100	Decreased circulating inhibin B concentration	HP:0040283	ORPHA:177901
4692	NDN	HP:0031100	Decreased circulating inhibin B concentration	HP:0040283	ORPHA:98754
4692	NDN	HP:0012166	Skin-picking	HP:0040282	ORPHA:177904
4692	NDN	HP:0012166	Skin-picking	HP:0040282	ORPHA:177901
4692	NDN	HP:0012166	Skin-picking	HP:0040283	ORPHA:98754
4692	NDN	HP:0012104	Parietal cortical atrophy	HP:0040282	ORPHA:177904
4692	NDN	HP:0012104	Parietal cortical atrophy	HP:0040282	ORPHA:177901
4692	NDN	HP:0012104	Parietal cortical atrophy	HP:0040282	ORPHA:98754
4692	NDN	HP:0012105	Occipital cortical atrophy	HP:0040282	ORPHA:177904
4692	NDN	HP:0012105	Occipital cortical atrophy	HP:0040282	ORPHA:177901
4692	NDN	HP:0012105	Occipital cortical atrophy	HP:0040282	ORPHA:98754
4692	NDN	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:98754
4692	NDN	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:177904
4692	NDN	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:177901
4692	NDN	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:177904
4692	NDN	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:177901
4692	NDN	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:98754
4692	NDN	HP:0011787	Central hypothyroidism	HP:0040282	ORPHA:177904
4692	NDN	HP:0011787	Central hypothyroidism	HP:0040282	ORPHA:177901
4692	NDN	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:98754
4692	NDN	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:98754
4692	NDN	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:177904
4692	NDN	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:177901
4692	NDN	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:177904
4692	NDN	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:177901
4692	NDN	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:98754
4692	NDN	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:98754
4692	NDN	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:177904
4692	NDN	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:177901
4692	NDN	HP:0100739	Bulimia	HP:0040283	ORPHA:177904
4692	NDN	HP:0100739	Bulimia	HP:0040282	ORPHA:177901
4692	NDN	HP:0100739	Bulimia	HP:0040283	ORPHA:98754
4692	NDN	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:177904
4692	NDN	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:177901
4692	NDN	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:98754
4692	NDN	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:98754
4692	NDN	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:177904
4692	NDN	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:177901
4692	NDN	HP:0002342	Intellectual disability, moderate	HP:0040284	ORPHA:98754
4692	NDN	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:177904
4692	NDN	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:177901
4692	NDN	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:177904
4692	NDN	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:177901
4692	NDN	HP:0001010	Hypopigmentation of the skin	HP:0040284	ORPHA:177910
4692	NDN	HP:0001010	Hypopigmentation of the skin	HP:0040284	ORPHA:98754
4692	NDN	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:177904
4692	NDN	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:177901
4692	NDN	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:98754
4692	NDN	HP:0200055	Small hand	HP:0040282	ORPHA:177904
4692	NDN	HP:0200055	Small hand	HP:0040282	ORPHA:177901
4692	NDN	HP:0200055	Small hand	HP:0040282	ORPHA:177910
4692	NDN	HP:0200055	Small hand	HP:0040282	ORPHA:98754
4692	NDN	HP:0010741	Pedal edema	HP:0040283	ORPHA:98754
4692	NDN	HP:0010741	Pedal edema	HP:0040283	ORPHA:177904
4692	NDN	HP:0010741	Pedal edema	HP:0040283	ORPHA:177901
4692	NDN	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:177904
4692	NDN	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:177901
4692	NDN	HP:0004283	Narrow palm	HP:0040283	ORPHA:177910
4692	NDN	HP:0005599	Hypopigmentation of hair	HP:0040284	ORPHA:98754
4692	NDN	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:177904
4692	NDN	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:177901
4692	NDN	HP:0005599	Hypopigmentation of hair	HP:0040284	ORPHA:177910
4692	NDN	HP:0006889	Intellectual disability, borderline	HP:0040283	ORPHA:177904
4692	NDN	HP:0006889	Intellectual disability, borderline	HP:0040283	ORPHA:177901
4692	NDN	HP:0006889	Intellectual disability, borderline	HP:0040282	ORPHA:98754
4692	NDN	HP:0012650	Perisylvian polymicrogyria	HP:0040282	ORPHA:177904
4692	NDN	HP:0012650	Perisylvian polymicrogyria	HP:0040282	ORPHA:177901
4692	NDN	HP:0012650	Perisylvian polymicrogyria	HP:0040282	ORPHA:98754
4692	NDN	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:177904
4692	NDN	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:177910
4692	NDN	HP:0004322	Short stature	HP:0040282	ORPHA:177904
4692	NDN	HP:0004322	Short stature	HP:0040282	ORPHA:177901
4692	NDN	HP:0004322	Short stature	HP:0040282	ORPHA:177910
4692	NDN	HP:0004322	Short stature	HP:0040282	ORPHA:98754
4692	NDN	HP:0000717	Autism	HP:0040282	ORPHA:177904
4692	NDN	HP:0000717	Autism	HP:0040282	ORPHA:177901
4692	NDN	HP:0000717	Autism	HP:0040282	ORPHA:98754
4692	NDN	HP:0000729	Autistic behavior	HP:0040282	ORPHA:98754
4692	NDN	HP:0000729	Autistic behavior	HP:0040282	ORPHA:177904
4692	NDN	HP:0000729	Autistic behavior	HP:0040282	ORPHA:177901
4692	NDN	HP:0000709	Psychosis	HP:0040282	ORPHA:177904
4692	NDN	HP:0000709	Psychosis	HP:0040282	ORPHA:177901
4692	NDN	HP:0000709	Psychosis	HP:0040282	ORPHA:98754
4692	NDN	HP:0000708	Atypical behavior	HP:0040282	ORPHA:98754
4692	NDN	HP:0000708	Atypical behavior	HP:0040282	ORPHA:177904
4692	NDN	HP:0000708	Atypical behavior	HP:0040282	ORPHA:177901
4692	NDN	HP:0000708	Atypical behavior	HP:0040282	ORPHA:177910
4692	NDN	HP:0000789	Infertility	HP:0040282	ORPHA:98754
4692	NDN	HP:0000789	Infertility	HP:0040282	ORPHA:177904
4692	NDN	HP:0000789	Infertility	HP:0040282	ORPHA:177901
4692	NDN	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:177904
4692	NDN	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:177901
4692	NDN	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:98754
4692	NDN	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:177904
4692	NDN	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:177901
4692	NDN	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:98754
4692	NDN	HP:0000826	Precocious puberty	HP:0040284	ORPHA:98754
4692	NDN	HP:0000826	Precocious puberty	HP:0040284	ORPHA:177904
4692	NDN	HP:0000826	Precocious puberty	HP:0040284	ORPHA:177901
4692	NDN	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:177904
4692	NDN	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:177901
4692	NDN	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:98754
4692	NDN	HP:0000823	Delayed puberty	HP:0040282	ORPHA:177904
4692	NDN	HP:0000823	Delayed puberty	HP:0040282	ORPHA:177901
4692	NDN	HP:0000823	Delayed puberty	HP:0040282	ORPHA:98754
4692	NDN	HP:0003241	External genital hypoplasia	HP:0040282	ORPHA:98754
4692	NDN	HP:0003241	External genital hypoplasia	HP:0040282	ORPHA:177904
4692	NDN	HP:0003241	External genital hypoplasia	HP:0040282	ORPHA:177901
4692	NDN	HP:0003241	External genital hypoplasia	HP:0040284	ORPHA:177910
4692	NDN	HP:0000939	Osteoporosis	HP:0040283	ORPHA:98754
4692	NDN	HP:0000939	Osteoporosis	HP:0040283	ORPHA:177904
4692	NDN	HP:0000939	Osteoporosis	HP:0040283	ORPHA:177901
4692	NDN	HP:0000938	Osteopenia	HP:0040283	ORPHA:98754
4692	NDN	HP:0000938	Osteopenia	HP:0040283	ORPHA:177904
4692	NDN	HP:0000938	Osteopenia	HP:0040283	ORPHA:177901
4692	NDN	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:177904
4692	NDN	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:177901
4692	NDN	HP:0007730	Iris hypopigmentation	HP:0040284	ORPHA:177910
4692	NDN	HP:0007730	Iris hypopigmentation	HP:0040284	ORPHA:98754
4692	NDN	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:177901
4692	NDN	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:98754
4692	NDN	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:177904
4692	NDN	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:177901
4692	NDN	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:177910
4692	NDN	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:98754
4692	NDN	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:177904
4692	NDN	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:177901
4692	NDN	HP:0002871	Central apnea	HP:0040283	ORPHA:177904
4692	NDN	HP:0002871	Central apnea	HP:0040283	ORPHA:177901
4692	NDN	HP:0002871	Central apnea	HP:0040283	ORPHA:98754
4692	NDN	HP:0001508	Failure to thrive	HP:0040282	ORPHA:98754
4692	NDN	HP:0001508	Failure to thrive	HP:0040282	ORPHA:177904
4692	NDN	HP:0001508	Failure to thrive	HP:0040282	ORPHA:177901
4692	NDN	HP:0001518	Small for gestational age	HP:0040283	ORPHA:98754
4692	NDN	HP:0001518	Small for gestational age	HP:0040283	ORPHA:177904
4692	NDN	HP:0001518	Small for gestational age	HP:0040283	ORPHA:177901
4692	NDN	HP:0001513	Obesity	HP:0040281	ORPHA:98754
4692	NDN	HP:0001513	Obesity	HP:0040281	ORPHA:177904
4692	NDN	HP:0001513	Obesity	HP:0040281	ORPHA:177901
4692	NDN	HP:0001513	Obesity	HP:0040282	ORPHA:177910
4692	NDN	HP:0031507	Decreased circulating T4 concentration	HP:0040282	ORPHA:177904
4692	NDN	HP:0031507	Decreased circulating T4 concentration	HP:0040282	ORPHA:177901
4692	NDN	HP:0031507	Decreased circulating T4 concentration	HP:0040283	ORPHA:98754
4692	NDN	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:177904
4692	NDN	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:177901
4692	NDN	HP:0007874	Almond-shaped palpebral fissure	HP:0040283	ORPHA:98754
4692	NDN	HP:0004039	Abnormal ulnar metaphysis morphology	HP:0040283	ORPHA:177910
4692	NDN	HP:0000486	Strabismus	HP:0040282	ORPHA:98754
4692	NDN	HP:0000486	Strabismus	HP:0040282	ORPHA:177904
4692	NDN	HP:0000486	Strabismus	HP:0040282	ORPHA:177901
4692	NDN	HP:0001773	Short foot	HP:0040282	ORPHA:177904
4692	NDN	HP:0001773	Short foot	HP:0040282	ORPHA:177901
4692	NDN	HP:0001773	Short foot	HP:0040282	ORPHA:177910
4692	NDN	HP:0001773	Short foot	HP:0040282	ORPHA:98754
4692	NDN	HP:0012411	Premature pubarche	HP:0040282	ORPHA:177904
4692	NDN	HP:0012411	Premature pubarche	HP:0040282	ORPHA:177901
4692	NDN	HP:0012411	Premature pubarche	HP:0040283	ORPHA:98754
4692	NDN	HP:0012412	Premature adrenarche	HP:0040282	ORPHA:177904
4692	NDN	HP:0012412	Premature adrenarche	HP:0040282	ORPHA:177901
4692	NDN	HP:0012412	Premature adrenarche	HP:0040283	ORPHA:98754
4692	NDN	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:177904
4692	NDN	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:177901
4692	NDN	HP:0030339	Decreased circulating gonadotropin concentration	HP:0040282	ORPHA:177904
4692	NDN	HP:0030339	Decreased circulating gonadotropin concentration	HP:0040282	ORPHA:177901
4692	NDN	HP:0030339	Decreased circulating gonadotropin concentration	HP:0040282	ORPHA:98754
4693	NDP	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
4693	NDP	HP:0001141	Severely reduced visual acuity	HP:0040283	ORPHA:891
4693	NDP	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:90050
4693	NDP	HP:0001104	Macular hypoplasia	HP:0040283	ORPHA:91495
4693	NDP	HP:0001103	Abnormal macular morphology	HP:0040283	ORPHA:90050
4693	NDP	HP:0001103	Abnormal macular morphology	HP:0040282	ORPHA:190
4693	NDP	HP:0009926	Epiphora	HP:0040283	ORPHA:91495
4693	NDP	HP:0009917	Persistent pupillary membrane	HP:0040282	ORPHA:91495
4693	NDP	HP:0001276	Hypertonia	HP:0040283	ORPHA:649
4693	NDP	HP:0001270	Motor delay	HP:0040283	ORPHA:891
4693	NDP	HP:0100832	Vitreous floaters	HP:0040283	ORPHA:891
4693	NDP	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:891
4693	NDP	HP:0001250	Seizure	-	OMIM:310600
4693	NDP	HP:0001250	Seizure	HP:0040283	ORPHA:649
4693	NDP	HP:0001252	Hypotonia	HP:0040283	ORPHA:649
4693	NDP	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:649
4693	NDP	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:649
4693	NDP	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:649
4693	NDP	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:649
4693	NDP	HP:0001324	Muscle weakness	HP:0040283	ORPHA:649
4693	NDP	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
4693	NDP	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
4693	NDP	HP:0002650	Scoliosis	HP:0040283	ORPHA:649
4693	NDP	HP:0001493	Falciform retinal fold	HP:0040282	ORPHA:891
4693	NDP	HP:0001493	Falciform retinal fold	-	OMIM:305390
4693	NDP	HP:0007685	Peripheral retinal avascularization	HP:0040281	ORPHA:891
4693	NDP	HP:0007685	Peripheral retinal avascularization	3/4	OMIM:305390
4693	NDP	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
4693	NDP	HP:0007676	Hypoplasia of the iris	-	OMIM:310600
4693	NDP	HP:0007676	Hypoplasia of the iris	HP:0040281	ORPHA:649
4693	NDP	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
4693	NDP	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:90050
4693	NDP	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:91495
4693	NDP	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:891
4693	NDP	HP:0007663	Reduced visual acuity	4/4	OMIM:305390
4693	NDP	HP:0500049	Retinopathy of prematurity	HP:0040281	ORPHA:90050
4693	NDP	HP:0012109	Angle closure glaucoma	HP:0040282	ORPHA:91495
4693	NDP	HP:0001419	X-linked recessive inheritance	-	OMIM:310600
4693	NDP	HP:0001419	X-linked recessive inheritance	-	OMIM:305390
4693	NDP	HP:0002076	Migraine	HP:0040283	ORPHA:649
4693	NDP	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:649
4693	NDP	HP:0002169	Clonus	HP:0040283	ORPHA:649
4693	NDP	HP:0011885	Hemorrhage of the eye	HP:0040283	ORPHA:91495
4693	NDP	HP:0003593	Infantile onset	1/4	OMIM:305390
4693	NDP	HP:0003593	Infantile onset	2/2	OMIM:310600
4693	NDP	HP:0100718	Uterine rupture	HP:0040283	ORPHA:649
4693	NDP	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:649
4693	NDP	HP:0100742	Vascular neoplasm	HP:0040281	ORPHA:649
4693	NDP	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:649
4693	NDP	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:649
4693	NDP	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:649
4693	NDP	HP:0002376	Developmental regression	HP:0040283	ORPHA:649
4693	NDP	HP:0001004	Lymphedema	HP:0040283	ORPHA:891
4693	NDP	HP:0002353	EEG abnormality	HP:0040283	ORPHA:649
4693	NDP	HP:0001083	Ectopia lentis	HP:0040283	ORPHA:649
4693	NDP	HP:0100639	Erectile dysfunction	HP:0040282	ORPHA:649
4693	NDP	HP:0010766	Ectopic calcification	HP:0040284	ORPHA:91495
4693	NDP	HP:0003621	Juvenile onset	8/19	OMIM:180100
4693	NDP	HP:0030503	Macular telangiectasia	HP:0040283	ORPHA:891
4693	NDP	HP:0006887	Intellectual disability, progressive	-	OMIM:310600
4693	NDP	HP:0006887	Intellectual disability, progressive	HP:0040282	ORPHA:649
4693	NDP	HP:0000639	Nystagmus	HP:0040283	OMIM:305390
4693	NDP	HP:0000639	Nystagmus	HP:0040282	ORPHA:649
4693	NDP	HP:0000646	Amblyopia	HP:0040283	ORPHA:90050
4693	NDP	HP:0000646	Amblyopia	HP:0040283	ORPHA:91495
4693	NDP	HP:0000648	Optic atrophy	-	OMIM:310600
4693	NDP	HP:0000648	Optic atrophy	HP:0040283	ORPHA:649
4693	NDP	HP:0000647	Sclerocornea	HP:0040281	ORPHA:649
4693	NDP	HP:0000618	Blindness	HP:0040283	ORPHA:90050
4693	NDP	HP:0000618	Blindness	-	OMIM:310600
4693	NDP	HP:0000618	Blindness	HP:0040283	ORPHA:91495
4693	NDP	HP:0000618	Blindness	HP:0040283	ORPHA:891
4693	NDP	HP:0000618	Blindness	HP:0040281	ORPHA:649
4693	NDP	HP:0000615	Abnormal pupil morphology	HP:0040283	ORPHA:649
4693	NDP	HP:0000601	Hypotelorism	HP:0040281	ORPHA:649
4693	NDP	HP:0030490	Exudative vitreoretinopathy	-	OMIM:305390
4693	NDP	HP:0030496	Macular exudate	HP:0040283	ORPHA:891
4693	NDP	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:891
4693	NDP	HP:0000662	Nyctalopia	26/28	OMIM:180100
4693	NDP	HP:0000667	Phthisis bulbi	HP:0040283	ORPHA:91495
4693	NDP	HP:0004327	Abnormal vitreous humor morphology	HP:0040282	ORPHA:649
4693	NDP	HP:0004326	Cachexia	HP:0040283	ORPHA:649
4693	NDP	HP:0030666	Retinal neovascularization	HP:0040282	ORPHA:891
4693	NDP	HP:0030666	Retinal neovascularization	1/4	OMIM:305390
4693	NDP	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:891
4693	NDP	HP:0100014	Epiretinal membrane	HP:0040283	ORPHA:891
4693	NDP	HP:0100012	Neoplasm of the eye	HP:0040281	ORPHA:649
4693	NDP	HP:0000738	Hallucinations	-	OMIM:310600
4693	NDP	HP:0000738	Hallucinations	HP:0040283	ORPHA:649
4693	NDP	HP:0000737	Irritability	HP:0040282	ORPHA:649
4693	NDP	HP:0000739	Anxiety	HP:0040282	ORPHA:649
4693	NDP	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:649
4693	NDP	HP:0000718	Aggressive behavior	-	OMIM:310600
4693	NDP	HP:0000717	Autism	HP:0040283	ORPHA:649
4693	NDP	HP:0000726	Dementia	-	OMIM:310600
4693	NDP	HP:0000709	Psychosis	-	OMIM:310600
4693	NDP	HP:0000709	Psychosis	HP:0040282	ORPHA:649
4693	NDP	HP:0000708	Atypical behavior	HP:0040283	ORPHA:649
4693	NDP	HP:0012795	Abnormal optic disc morphology	HP:0040282	ORPHA:891
4693	NDP	HP:0011463	Childhood onset	3/19	OMIM:180100
4693	NDP	HP:0011463	Childhood onset	3/4	OMIM:305390
4693	NDP	HP:0011462	Young adult onset	8/19	OMIM:180100
4693	NDP	HP:0030744	Hyaloid vascular remnant and retrolental mass	HP:0040282	ORPHA:91495
4693	NDP	HP:0030743	Glial remnants anterior to the optic disc	HP:0040282	ORPHA:91495
4693	NDP	HP:0011532	Subretinal exudate	-	OMIM:305390
4693	NDP	HP:0011530	Retinal hole	HP:0040283	OMIM:305390
4693	NDP	HP:0012841	Retinal vascular tortuosity	1/4	OMIM:305390
4693	NDP	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:649
4693	NDP	HP:0000823	Delayed puberty	HP:0040283	ORPHA:649
4693	NDP	HP:0040049	Macular edema	HP:0040283	ORPHA:891
4693	NDP	HP:0008063	Aplasia/Hypoplasia of the lens	HP:0040282	ORPHA:649
4693	NDP	HP:0008052	Retinal fold	1/2	OMIM:310600
4693	NDP	HP:0008052	Retinal fold	HP:0040283	ORPHA:91495
4693	NDP	HP:0008052	Retinal fold	1/4	OMIM:305390
4693	NDP	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:190
4693	NDP	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:90050
4693	NDP	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:190
4693	NDP	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:649
4693	NDP	HP:0007710	Peripheral vitreous opacities	-	OMIM:305390
4693	NDP	HP:0000272	Malar flattening	HP:0040283	ORPHA:649
4693	NDP	HP:0007773	Vitreoretinopathy	HP:0040280	ORPHA:891
4693	NDP	HP:0007759	Opacification of the corneal stroma	-	OMIM:310600
4693	NDP	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
4693	NDP	HP:0012230	Rhegmatogenous retinal detachment	HP:0040283	ORPHA:891
4693	NDP	HP:0000252	Microcephaly	HP:0040283	ORPHA:649
4693	NDP	HP:0000252	Microcephaly	HP:0040283	ORPHA:891
4693	NDP	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:649
4693	NDP	HP:0001508	Failure to thrive	HP:0040283	ORPHA:649
4693	NDP	HP:0001518	Small for gestational age	HP:0040281	ORPHA:90050
4693	NDP	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
4693	NDP	HP:0007833	Anterior chamber synechiae	HP:0040281	ORPHA:649
4693	NDP	HP:0031526	Subretinal fluid	HP:0040282	ORPHA:891
4693	NDP	HP:0011039	Abnormal helix morphology	HP:0040283	ORPHA:649
4693	NDP	HP:0000365	Hearing impairment	HP:0040283	ORPHA:891
4693	NDP	HP:0000375	Abnormal cochlea morphology	HP:0040282	ORPHA:649
4693	NDP	HP:0011003	High myopia	1/4	OMIM:305390
4693	NDP	HP:0001622	Premature birth	HP:0040281	ORPHA:90050
4693	NDP	HP:0007957	Corneal opacity	2/2	OMIM:310600
4693	NDP	HP:0007957	Corneal opacity	HP:0040281	ORPHA:91495
4693	NDP	HP:0007957	Corneal opacity	HP:0040281	ORPHA:649
4693	NDP	HP:0007917	Tractional retinal detachment	HP:0040282	ORPHA:891
4693	NDP	HP:0007917	Tractional retinal detachment	HP:0040283	ORPHA:90050
4693	NDP	HP:0007917	Tractional retinal detachment	HP:0040282	ORPHA:91495
4693	NDP	HP:0007902	Vitreous hemorrhage	HP:0040283	ORPHA:891
4693	NDP	HP:0007902	Vitreous hemorrhage	HP:0040283	ORPHA:90050
4693	NDP	HP:0007989	Intraretinal exudate	-	OMIM:305390
4693	NDP	HP:0007968	Remnants of the hyaloid vascular system	HP:0040280	ORPHA:91495
4693	NDP	HP:0007968	Remnants of the hyaloid vascular system	HP:0040282	ORPHA:649
4693	NDP	HP:0007973	Retinal dysplasia	-	OMIM:310600
4693	NDP	HP:0000407	Sensorineural hearing impairment	-	OMIM:310600
4693	NDP	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:649
4693	NDP	HP:0000400	Macrotia	HP:0040281	ORPHA:649
4693	NDP	HP:0005293	Venous insufficiency	HP:0040282	ORPHA:649
4693	NDP	HP:0000486	Strabismus	HP:0040283	ORPHA:91495
4693	NDP	HP:0000486	Strabismus	HP:0040281	ORPHA:190
4693	NDP	HP:0000486	Strabismus	HP:0040283	ORPHA:90050
4693	NDP	HP:0000482	Microcornea	HP:0040283	ORPHA:91495
4693	NDP	HP:0000490	Deeply set eye	HP:0040281	ORPHA:649
4693	NDP	HP:0000490	Deeply set eye	-	OMIM:305390
4693	NDP	HP:0000446	Narrow nasal bridge	HP:0040281	ORPHA:649
4693	NDP	HP:0000411	Protruding ear	HP:0040283	ORPHA:649
4693	NDP	HP:0000518	Cataract	-	OMIM:310600
4693	NDP	HP:0000518	Cataract	HP:0040283	ORPHA:891
4693	NDP	HP:0000518	Cataract	HP:0040281	ORPHA:649
4693	NDP	HP:0000518	Cataract	HP:0040283	ORPHA:90050
4693	NDP	HP:0000518	Cataract	HP:0040281	ORPHA:91495
4693	NDP	HP:0000518	Cataract	HP:0040283	ORPHA:190
4693	NDP	HP:0000519	Developmental cataract	HP:0040282	ORPHA:91495
4693	NDP	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
4693	NDP	HP:0000501	Glaucoma	HP:0040283	ORPHA:90050
4693	NDP	HP:0000501	Glaucoma	HP:0040282	ORPHA:190
4693	NDP	HP:0000501	Glaucoma	HP:0040283	ORPHA:649
4693	NDP	HP:0000575	Scotoma	5/18	OMIM:180100
4693	NDP	HP:0000594	Shallow anterior chamber	2/2	OMIM:310600
4693	NDP	HP:0000594	Shallow anterior chamber	HP:0040283	ORPHA:91495
4693	NDP	HP:0000594	Shallow anterior chamber	1/4	OMIM:305390
4693	NDP	HP:0000593	Abnormal anterior chamber morphology	HP:0040283	ORPHA:190
4693	NDP	HP:0000557	Buphthalmos	1/2	OMIM:310600
4693	NDP	HP:0000557	Buphthalmos	HP:0040283	ORPHA:91495
4693	NDP	HP:0000555	Leukocoria	1/2	OMIM:310600
4693	NDP	HP:0000555	Leukocoria	HP:0040281	ORPHA:91495
4693	NDP	HP:0000568	Microphthalmia	-	OMIM:310600
4693	NDP	HP:0000568	Microphthalmia	HP:0040281	ORPHA:91495
4693	NDP	HP:0000568	Microphthalmia	HP:0040283	ORPHA:891
4693	NDP	HP:0000568	Microphthalmia	HP:0040281	ORPHA:649
4693	NDP	HP:0000568	Microphthalmia	HP:0040283	OMIM:305390
4693	NDP	HP:0000541	Retinal detachment	2/2	OMIM:310600
4693	NDP	HP:0000541	Retinal detachment	HP:0040282	ORPHA:190
4693	NDP	HP:0000541	Retinal detachment	HP:0040282	ORPHA:649
4693	NDP	HP:0000541	Retinal detachment	3/4	OMIM:305390
4693	NDP	HP:0000532	Abnormal chorioretinal morphology	HP:0040281	ORPHA:649
4693	NDP	HP:0000533	Chorioretinal atrophy	HP:0040283	ORPHA:891
4693	NDP	HP:0000543	Optic disc pallor	1/1	OMIM:180100
4693	NDP	HP:0000545	Myopia	-	OMIM:180100
4693	NDP	HP:0000545	Myopia	HP:0040283	ORPHA:90050
4694	NDUFA1	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
4694	NDUFA1	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0003701	Proximal muscle weakness	1/3	OMIM:301020
4694	NDUFA1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0001290	Generalized hypotonia	1/2	OMIM:301020
4694	NDUFA1	HP:0001272	Cerebellar atrophy	1/3	OMIM:301020
4694	NDUFA1	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0001250	Seizure	1/3	OMIM:301020
4694	NDUFA1	HP:0001252	Hypotonia	1/3	OMIM:301020
4694	NDUFA1	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0001251	Ataxia	3/3	OMIM:301020
4694	NDUFA1	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0001249	Intellectual disability	1/3	OMIM:301020
4694	NDUFA1	HP:0001265	Hyporeflexia	1/2	OMIM:301020
4694	NDUFA1	HP:0001266	Choreoathetosis	1/2	OMIM:301020
4694	NDUFA1	HP:0001263	Global developmental delay	2/2	OMIM:301020
4694	NDUFA1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0001336	Myoclonus	1/3	OMIM:301020
4694	NDUFA1	HP:0008936	Axial hypotonia	1/2	OMIM:301020
4694	NDUFA1	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0001419	X-linked recessive inheritance	-	OMIM:301020
4694	NDUFA1	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0002069	Bilateral tonic-clonic seizure	1/3	OMIM:301020
4694	NDUFA1	HP:0002141	Gait imbalance	1/3	OMIM:301020
4694	NDUFA1	HP:0002151	Increased circulating lactate concentration	1/3	OMIM:301020
4694	NDUFA1	HP:0002123	Generalized myoclonic seizure	1/2	OMIM:301020
4694	NDUFA1	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
4694	NDUFA1	HP:0011923	Decreased activity of mitochondrial complex I	3/3	OMIM:301020
4694	NDUFA1	HP:0003593	Infantile onset	2/2	OMIM:301020
4694	NDUFA1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
4694	NDUFA1	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0002381	Aphasia	1/3	OMIM:301020
4694	NDUFA1	HP:0002359	Frequent falls	1/3	OMIM:301020
4694	NDUFA1	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0002317	Unsteady gait	1/3	OMIM:301020
4694	NDUFA1	HP:0000639	Nystagmus	1/2	OMIM:301020
4694	NDUFA1	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0000618	Blindness	HP:0040283	ORPHA:2609
4694	NDUFA1	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0031936	Delayed ability to walk	1/3	OMIM:301020
4694	NDUFA1	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0000750	Delayed speech and language development	1/2	OMIM:301020
4694	NDUFA1	HP:0000726	Dementia	2/3	OMIM:301020
4694	NDUFA1	HP:0011463	Childhood onset	3/3	OMIM:301020
4694	NDUFA1	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
4694	NDUFA1	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
4694	NDUFA1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0000408	Progressive sensorineural hearing impairment	1/3	OMIM:301020
4694	NDUFA1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0000510	Rod-cone dystrophy	1/3	OMIM:301020
4694	NDUFA1	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
4694	NDUFA1	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
4695	NDUFA2	HP:0007325	Generalized dystonia	1/2	OMIM:618235
4695	NDUFA2	HP:0001298	Encephalopathy	1/2	OMIM:618235
4695	NDUFA2	HP:0001249	Intellectual disability	1/1	OMIM:618235
4695	NDUFA2	HP:0001263	Global developmental delay	3/3	OMIM:618235
4695	NDUFA2	HP:0001257	Spasticity	1/2	OMIM:618235
4695	NDUFA2	HP:0001259	Coma	1/1	OMIM:618235
4695	NDUFA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618235
4695	NDUFA2	HP:0002013	Vomiting	1/1	OMIM:618235
4695	NDUFA2	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:618235
4695	NDUFA2	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:618235
4695	NDUFA2	HP:0002059	Cerebral atrophy	1/1	OMIM:618235
4695	NDUFA2	HP:0002104	Apnea	1/1	OMIM:618235
4695	NDUFA2	HP:0011923	Decreased activity of mitochondrial complex I	3/3	OMIM:618235
4695	NDUFA2	HP:0003593	Infantile onset	1/2	OMIM:618235
4695	NDUFA2	HP:0002240	Hepatomegaly	1/2	OMIM:618235
4695	NDUFA2	HP:0011968	Feeding difficulties	1/2	OMIM:618235
4695	NDUFA2	HP:0002376	Developmental regression	2/2	OMIM:618235
4695	NDUFA2	HP:0003623	Neonatal onset	1/1	OMIM:618235
4695	NDUFA2	HP:0001945	Fever	1/2	OMIM:618235
4695	NDUFA2	HP:0001942	Metabolic acidosis	-	OMIM:618235
4695	NDUFA2	HP:0001941	Acidosis	1/1	OMIM:618235
4695	NDUFA2	HP:0000737	Irritability	1/2	OMIM:618235
4695	NDUFA2	HP:0034295	Reduced cerebral white matter volume	1/2	OMIM:618235
4695	NDUFA2	HP:0003234	Decreased circulating carnitine concentration	1/2	OMIM:618235
4695	NDUFA2	HP:0000252	Microcephaly	1/2	OMIM:618235
4695	NDUFA2	HP:0001522	Death in infancy	1/1	OMIM:618235
4695	NDUFA2	HP:0001508	Failure to thrive	1/2	OMIM:618235
4695	NDUFA2	HP:0001695	Cardiac arrest	1/1	OMIM:618235
4695	NDUFA2	HP:0001662	Bradycardia	1/1	OMIM:618235
4695	NDUFA2	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:618235
4695	NDUFA2	HP:0011153	Focal motor seizure	1/2	OMIM:618235
4697	COXFA4	HP:0002490	Increased CSF lactate	2/2	OMIM:619065
4697	COXFA4	HP:0001270	Motor delay	2/4	OMIM:619065
4697	COXFA4	HP:0001251	Ataxia	2/4	OMIM:619065
4697	COXFA4	HP:0001264	Spastic diplegia	-	OMIM:619065
4697	COXFA4	HP:0500233	Increased CSF alanine concentration	-	OMIM:619065
4697	COXFA4	HP:0001348	Brisk reflexes	-	OMIM:619065
4697	COXFA4	HP:0001332	Dystonia	3/4	OMIM:619065
4697	COXFA4	HP:0000007	Autosomal recessive inheritance	-	OMIM:619065
4697	COXFA4	HP:0001336	Myoclonus	1/4	OMIM:619065
4697	COXFA4	HP:0002069	Bilateral tonic-clonic seizure	1/4	OMIM:619065
4697	COXFA4	HP:0003487	Babinski sign	-	OMIM:619065
4697	COXFA4	HP:0003577	Congenital onset	4/4	OMIM:619065
4697	COXFA4	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:619065
4697	COXFA4	HP:0008347	Decreased activity of mitochondrial complex IV	-	OMIM:619065
4697	COXFA4	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1/1	OMIM:619065
4697	COXFA4	HP:0004322	Short stature	-	OMIM:619065
4697	COXFA4	HP:0000750	Delayed speech and language development	4/4	OMIM:619065
4697	COXFA4	HP:0003128	Lactic acidosis	4/4	OMIM:619065
4697	COXFA4	HP:0012240	Increased intramyocellular lipid droplets	3/3	OMIM:619065
4697	COXFA4	HP:0001531	Failure to thrive in infancy	2/4	OMIM:619065
4700	NDUFA6	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
4700	NDUFA6	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0002490	Increased CSF lactate	2/4	OMIM:618253
4700	NDUFA6	HP:0002465	Poor speech	-	OMIM:618253
4700	NDUFA6	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0009879	Simplified gyral pattern	1/4	OMIM:618253
4700	NDUFA6	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0001298	Encephalopathy	-	OMIM:618253
4700	NDUFA6	HP:0001290	Generalized hypotonia	1/4	OMIM:618253
4700	NDUFA6	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0001250	Seizure	2/4	OMIM:618253
4700	NDUFA6	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0001260	Dysarthria	1/4	OMIM:618253
4700	NDUFA6	HP:0001263	Global developmental delay	-	OMIM:618253
4700	NDUFA6	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0001257	Spasticity	1/4	OMIM:618253
4700	NDUFA6	HP:0002505	Loss of ambulation	1/4	OMIM:618253
4700	NDUFA6	HP:0000047	Hypospadias	1/4	OMIM:618253
4700	NDUFA6	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0000007	Autosomal recessive inheritance	-	OMIM:618253
4700	NDUFA6	HP:0001321	Cerebellar hypoplasia	1/4	OMIM:618253
4700	NDUFA6	HP:0012179	Craniofacial dystonia	1/4	OMIM:618253
4700	NDUFA6	HP:0008936	Axial hypotonia	1/4	OMIM:618253
4700	NDUFA6	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0002015	Dysphagia	1/4	OMIM:618253
4700	NDUFA6	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0002093	Respiratory insufficiency	-	OMIM:618253
4700	NDUFA6	HP:0002151	Increased circulating lactate concentration	1/4	OMIM:618253
4700	NDUFA6	HP:0002119	Ventriculomegaly	1/4	OMIM:618253
4700	NDUFA6	HP:0002133	Status epilepticus	2/4	OMIM:618253
4700	NDUFA6	HP:0002110	Bronchiectasis	1/4	OMIM:618253
4700	NDUFA6	HP:0002104	Apnea	1/4	OMIM:618253
4700	NDUFA6	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
4700	NDUFA6	HP:0011923	Decreased activity of mitochondrial complex I	-	OMIM:618253
4700	NDUFA6	HP:0003593	Infantile onset	1/4	OMIM:618253
4700	NDUFA6	HP:0003577	Congenital onset	1/4	OMIM:618253
4700	NDUFA6	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
4700	NDUFA6	HP:0011968	Feeding difficulties	1/4	OMIM:618253
4700	NDUFA6	HP:0011951	Aspiration pneumonia	1/4	OMIM:618253
4700	NDUFA6	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0002344	Progressive neurologic deterioration	-	OMIM:618253
4700	NDUFA6	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0002300	Mutism	-	OMIM:618253
4700	NDUFA6	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0000648	Optic atrophy	2/4	OMIM:618253
4700	NDUFA6	HP:0000618	Blindness	HP:0040283	ORPHA:2609
4700	NDUFA6	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0001943	Hypoglycemia	1/4	OMIM:618253
4700	NDUFA6	HP:0001942	Metabolic acidosis	-	OMIM:618253
4700	NDUFA6	HP:0001987	Hyperammonemia	1/4	OMIM:618253
4700	NDUFA6	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0000737	Irritability	1/4	OMIM:618253
4700	NDUFA6	HP:0011463	Childhood onset	1/4	OMIM:618253
4700	NDUFA6	HP:0034295	Reduced cerebral white matter volume	1/4	OMIM:618253
4700	NDUFA6	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0003128	Lactic acidosis	2/4	OMIM:618253
4700	NDUFA6	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
4700	NDUFA6	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0033044	Motor regression	1/4	OMIM:618253
4700	NDUFA6	HP:0008070	Sparse hair	1/4	OMIM:618253
4700	NDUFA6	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
4700	NDUFA6	HP:0001562	Oligohydramnios	1/4	OMIM:618253
4700	NDUFA6	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0001518	Small for gestational age	2/4	OMIM:618253
4700	NDUFA6	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0001511	Intrauterine growth retardation	2/4	OMIM:618253
4700	NDUFA6	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
4700	NDUFA6	HP:0001875	Decreased total neutrophil count	1/4	OMIM:618253
4702	NDUFA8	HP:0002490	Increased CSF lactate	1/1	OMIM:619272
4702	NDUFA8	HP:0002445	Tetraplegia	1/1	OMIM:619272
4702	NDUFA8	HP:0002421	Poor head control	1/1	OMIM:619272
4702	NDUFA8	HP:0002401	Stroke-like episode	1/2	OMIM:619272
4702	NDUFA8	HP:0001276	Hypertonia	2/3	OMIM:619272
4702	NDUFA8	HP:0001272	Cerebellar atrophy	1/1	OMIM:619272
4702	NDUFA8	HP:0001270	Motor delay	1/2	OMIM:619272
4702	NDUFA8	HP:0001250	Seizure	2/3	OMIM:619272
4702	NDUFA8	HP:0001252	Hypotonia	1/2	OMIM:619272
4702	NDUFA8	HP:0007371	Corpus callosum atrophy	1/1	OMIM:619272
4702	NDUFA8	HP:0000047	Hypospadias	1/1	OMIM:619272
4702	NDUFA8	HP:0000023	Inguinal hernia	1/1	OMIM:619272
4702	NDUFA8	HP:0000007	Autosomal recessive inheritance	-	OMIM:619272
4702	NDUFA8	HP:0002098	Respiratory distress	1/2	OMIM:619272
4702	NDUFA8	HP:0002092	Pulmonary arterial hypertension	2/2	OMIM:619272
4702	NDUFA8	HP:0002059	Cerebral atrophy	1/1	OMIM:619272
4702	NDUFA8	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:619272
4702	NDUFA8	HP:0002120	Cerebral cortical atrophy	1/2	OMIM:619272
4702	NDUFA8	HP:0002119	Ventriculomegaly	1/1	OMIM:619272
4702	NDUFA8	HP:0002133	Status epilepticus	1/2	OMIM:619272
4702	NDUFA8	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:619272
4702	NDUFA8	HP:0002179	Opisthotonus	1/1	OMIM:619272
4702	NDUFA8	HP:0003593	Infantile onset	1/1	OMIM:619272
4702	NDUFA8	HP:0011344	Severe global developmental delay	1/1	OMIM:619272
4702	NDUFA8	HP:0000750	Delayed speech and language development	2/2	OMIM:619272
4702	NDUFA8	HP:0003128	Lactic acidosis	1/2	OMIM:619272
4702	NDUFA8	HP:0003202	Skeletal muscle atrophy	1/2	OMIM:619272
4702	NDUFA8	HP:0000252	Microcephaly	1/1	OMIM:619272
4702	NDUFA8	HP:0000218	High palate	1/1	OMIM:619272
4702	NDUFA8	HP:0001508	Failure to thrive	3/3	OMIM:619272
4702	NDUFA8	HP:0001510	Growth delay	1/1	OMIM:619272
4702	NDUFA8	HP:0001662	Bradycardia	1/2	OMIM:619272
4702	NDUFA8	HP:0032989	Delayed ability to roll over	1/1	OMIM:619272
4703	NEB	HP:0001188	Hand clenching	-	OMIM:256030
4703	NEB	HP:0001181	Adducted thumb	HP:0040283	ORPHA:171430
4703	NEB	HP:0001181	Adducted thumb	1/5	OMIM:619334
4703	NEB	HP:0002483	Bulbar signs	HP:0040283	ORPHA:171439
4703	NEB	HP:0003798	Nemaline bodies	5/5	OMIM:619334
4703	NEB	HP:0003798	Nemaline bodies	HP:0040281	ORPHA:171439
4703	NEB	HP:0003798	Nemaline bodies	4/7	OMIM:256030
4703	NEB	HP:0003798	Nemaline bodies	HP:0040283	ORPHA:171436
4703	NEB	HP:0003798	Nemaline bodies	HP:0040281	ORPHA:171433
4703	NEB	HP:0003798	Nemaline bodies	HP:0040282	ORPHA:171430
4703	NEB	HP:0003798	Nemaline bodies	HP:0040282	ORPHA:399103
4703	NEB	HP:0003722	Neck flexor weakness	-	OMIM:256030
4703	NEB	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:171436
4703	NEB	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:399103
4703	NEB	HP:0003707	Calf muscle pseudohypertrophy	3/7	OMIM:256030
4703	NEB	HP:0003701	Proximal muscle weakness	-	OMIM:256030
4703	NEB	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:171439
4703	NEB	HP:0001270	Motor delay	-	OMIM:256030
4703	NEB	HP:0001270	Motor delay	HP:0040282	ORPHA:171433
4703	NEB	HP:0001270	Motor delay	HP:0040282	ORPHA:171430
4703	NEB	HP:0001270	Motor delay	HP:0040282	ORPHA:171439
4703	NEB	HP:0001288	Gait disturbance	1/7	OMIM:256030
4703	NEB	HP:0001288	Gait disturbance	HP:0040282	ORPHA:171436
4703	NEB	HP:0001288	Gait disturbance	HP:0040282	ORPHA:171433
4703	NEB	HP:0001288	Gait disturbance	HP:0040282	ORPHA:171439
4703	NEB	HP:0001283	Bulbar palsy	-	OMIM:256030
4703	NEB	HP:0001284	Areflexia	HP:0040283	ORPHA:171433
4703	NEB	HP:0001284	Areflexia	HP:0040283	ORPHA:171439
4703	NEB	HP:0001284	Areflexia	-	OMIM:256030
4703	NEB	HP:0001265	Hyporeflexia	-	OMIM:256030
4703	NEB	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:171436
4703	NEB	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:171433
4703	NEB	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:171439
4703	NEB	HP:0001260	Dysarthria	2/7	OMIM:256030
4703	NEB	HP:0002540	Inability to walk	-	OMIM:256030
4703	NEB	HP:0002515	Waddling gait	-	OMIM:256030
4703	NEB	HP:0002515	Waddling gait	HP:0040283	ORPHA:171436
4703	NEB	HP:0002515	Waddling gait	HP:0040283	ORPHA:171439
4703	NEB	HP:0003805	Rimmed vacuoles	1/7	OMIM:256030
4703	NEB	HP:0003803	Type 1 muscle fiber predominance	-	OMIM:256030
4703	NEB	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171436
4703	NEB	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171433
4703	NEB	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171430
4703	NEB	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171439
4703	NEB	HP:0003819	Death in childhood	1/5	OMIM:619334
4703	NEB	HP:0003811	Neonatal death	2/5	OMIM:619334
4703	NEB	HP:0003810	Late-onset distal muscle weakness	-	OMIM:256030
4703	NEB	HP:0001371	Flexion contracture	HP:0040283	ORPHA:171436
4703	NEB	HP:0001371	Flexion contracture	HP:0040282	ORPHA:171433
4703	NEB	HP:0001371	Flexion contracture	HP:0040282	ORPHA:171430
4703	NEB	HP:0001371	Flexion contracture	HP:0040283	ORPHA:171439
4703	NEB	HP:0001371	Flexion contracture	-	OMIM:256030
4703	NEB	HP:0012036	Sternocleidomastoid amyotrophy	HP:0040282	ORPHA:399103
4703	NEB	HP:0012036	Sternocleidomastoid amyotrophy	1/7	OMIM:256030
4703	NEB	HP:0000054	Micropenis	HP:0040283	ORPHA:171430
4703	NEB	HP:0000047	Hypospadias	-	OMIM:619334
4703	NEB	HP:0000047	Hypospadias	HP:0040283	ORPHA:171430
4703	NEB	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171439
4703	NEB	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171436
4703	NEB	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171433
4703	NEB	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171430
4703	NEB	HP:0007514	Edema of the dorsum of hands	HP:0040283	ORPHA:171430
4703	NEB	HP:0000007	Autosomal recessive inheritance	-	OMIM:619334
4703	NEB	HP:0000007	Autosomal recessive inheritance	-	OMIM:256030
4703	NEB	HP:0002650	Scoliosis	-	OMIM:256030
4703	NEB	HP:0002650	Scoliosis	HP:0040283	ORPHA:171436
4703	NEB	HP:0002650	Scoliosis	HP:0040283	ORPHA:171439
4703	NEB	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:171436
4703	NEB	HP:0001319	Neonatal hypotonia	-	OMIM:256030
4703	NEB	HP:0000160	Narrow mouth	3/7	OMIM:256030
4703	NEB	HP:0000175	Cleft palate	-	OMIM:256030
4703	NEB	HP:0002705	High, narrow palate	HP:0040283	ORPHA:171433
4703	NEB	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:171439
4703	NEB	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:256030
4703	NEB	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:171439
4703	NEB	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:171436
4703	NEB	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:171430
4703	NEB	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:171436
4703	NEB	HP:0002015	Dysphagia	-	OMIM:256030
4703	NEB	HP:0002015	Dysphagia	HP:0040282	ORPHA:171433
4703	NEB	HP:0002015	Dysphagia	HP:0040282	ORPHA:171430
4703	NEB	HP:0003307	Hyperlordosis	-	OMIM:256030
4703	NEB	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:171436
4703	NEB	HP:0003306	Spinal rigidity	-	OMIM:256030
4703	NEB	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:171436
4703	NEB	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:171439
4703	NEB	HP:0003324	Generalized muscle weakness	-	OMIM:256030
4703	NEB	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:171433
4703	NEB	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:171430
4703	NEB	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:171436
4703	NEB	HP:0002067	Bradykinesia	HP:0040282	ORPHA:171439
4703	NEB	HP:0002068	Neuromuscular dysphagia	HP:0040282	ORPHA:171439
4703	NEB	HP:0003393	Thenar muscle atrophy	1/7	OMIM:256030
4703	NEB	HP:0003376	Steppage gait	1/7	OMIM:256030
4703	NEB	HP:0002058	Myopathic facies	11/17	OMIM:256030
4703	NEB	HP:0002058	Myopathic facies	HP:0040282	ORPHA:171433
4703	NEB	HP:0003388	Easy fatigability	1/7	OMIM:256030
4703	NEB	HP:0008180	Mildly elevated creatine kinase	-	OMIM:256030
4703	NEB	HP:0008180	Mildly elevated creatine kinase	HP:0040283	ORPHA:171439
4703	NEB	HP:0003458	EMG: myopathic abnormalities	-	OMIM:256030
4703	NEB	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:171433
4703	NEB	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:171439
4703	NEB	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:399103
4703	NEB	HP:0003445	EMG: neuropathic changes	-	OMIM:256030
4703	NEB	HP:0002104	Apnea	-	OMIM:256030
4703	NEB	HP:0003593	Infantile onset	-	OMIM:256030
4703	NEB	HP:0003555	Muscle fiber splitting	1/7	OMIM:256030
4703	NEB	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:171439
4703	NEB	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:171439
4703	NEB	HP:0003557	Increased variability in muscle fiber diameter	1/7	OMIM:256030
4703	NEB	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:171436
4703	NEB	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:619334
4703	NEB	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:171439
4703	NEB	HP:0007010	Poor fine motor coordination	-	ORPHA:171439
4703	NEB	HP:0011968	Feeding difficulties	-	OMIM:256030
4703	NEB	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:171436
4703	NEB	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:171439
4703	NEB	HP:0010628	Facial palsy	HP:0040282	ORPHA:171436
4703	NEB	HP:0010628	Facial palsy	HP:0040282	ORPHA:171433
4703	NEB	HP:0010628	Facial palsy	HP:0040282	ORPHA:171430
4703	NEB	HP:0003691	Scapular winging	HP:0040283	ORPHA:171439
4703	NEB	HP:0003690	Limb muscle weakness	-	OMIM:256030
4703	NEB	HP:0003690	Limb muscle weakness	HP:0040282	ORPHA:171439
4703	NEB	HP:0002359	Frequent falls	2/7	OMIM:256030
4703	NEB	HP:0002375	Hypokinesia	HP:0040283	ORPHA:171436
4703	NEB	HP:0002375	Hypokinesia	HP:0040282	ORPHA:171433
4703	NEB	HP:0002375	Hypokinesia	HP:0040282	ORPHA:171430
4703	NEB	HP:0002312	Clumsiness	HP:0040282	ORPHA:171439
4703	NEB	HP:0002304	Akinesia	5/5	OMIM:619334
4703	NEB	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:171433
4703	NEB	HP:0006829	Severe muscular hypotonia	HP:0040282	ORPHA:171430
4703	NEB	HP:0009073	Progressive proximal muscle weakness	HP:0040283	ORPHA:399103
4703	NEB	HP:0009077	Weakness of long finger extensor muscles	HP:0040282	ORPHA:399103
4703	NEB	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:171433
4703	NEB	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:171430
4703	NEB	HP:0009063	Progressive distal muscle weakness	HP:0040282	ORPHA:399103
4703	NEB	HP:0009055	Generalized limb muscle atrophy	HP:0040282	ORPHA:171439
4703	NEB	HP:0009058	Increased muscle lipid content	HP:0040282	ORPHA:171439
4703	NEB	HP:0009025	Increased connective tissue	HP:0040282	ORPHA:171430
4703	NEB	HP:0009027	Foot dorsiflexor weakness	5/7	OMIM:256030
4703	NEB	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:171436
4703	NEB	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:399103
4703	NEB	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040282	ORPHA:399103
4703	NEB	HP:0001989	Fetal akinesia sequence	HP:0040283	ORPHA:171439
4703	NEB	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:171436
4703	NEB	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:171433
4703	NEB	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:171430
4703	NEB	HP:0000774	Narrow chest	HP:0040283	ORPHA:171436
4703	NEB	HP:0000774	Narrow chest	HP:0040283	ORPHA:171439
4703	NEB	HP:0000775	Abnormality of the diaphragm	HP:0040283	ORPHA:171430
4703	NEB	HP:0003198	Myopathy	HP:0040283	ORPHA:171436
4703	NEB	HP:0003198	Myopathy	HP:0040281	ORPHA:171439
4703	NEB	HP:0000883	Thin ribs	HP:0040283	ORPHA:171430
4703	NEB	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:171436
4703	NEB	HP:0003202	Skeletal muscle atrophy	1/7	OMIM:256030
4703	NEB	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:171433
4703	NEB	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:171430
4703	NEB	HP:0005855	Multiple prenatal fractures	HP:0040282	ORPHA:171433
4703	NEB	HP:0005855	Multiple prenatal fractures	HP:0040282	ORPHA:171430
4703	NEB	HP:0000275	Narrow face	HP:0040283	ORPHA:171436
4703	NEB	HP:0000275	Narrow face	HP:0040283	ORPHA:171439
4703	NEB	HP:0000276	Long face	HP:0040283	ORPHA:171439
4703	NEB	HP:0006466	Ankle flexion contracture	HP:0040282	ORPHA:399103
4703	NEB	HP:0030059	Mitochondrial depletion	-	OMIM:256030
4703	NEB	HP:0002827	Hip dislocation	HP:0040283	ORPHA:171436
4703	NEB	HP:0002808	Kyphosis	HP:0040284	ORPHA:171436
4703	NEB	HP:0002803	Congenital contracture	-	OMIM:256030
4703	NEB	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:256030
4703	NEB	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:171436
4703	NEB	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	ORPHA:171433
4703	NEB	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:171430
4703	NEB	HP:0002804	Arthrogryposis multiplex congenita	4/5	OMIM:619334
4703	NEB	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	ORPHA:171439
4703	NEB	HP:0000239	Large fontanelles	HP:0040283	ORPHA:171430
4703	NEB	HP:0000239	Large fontanelles	1/5	OMIM:619334
4703	NEB	HP:0001547	Abnormal rib cage morphology	-	OMIM:256030
4703	NEB	HP:0002878	Respiratory failure	HP:0040282	ORPHA:171433
4703	NEB	HP:0002878	Respiratory failure	HP:0040282	ORPHA:171430
4703	NEB	HP:0002878	Respiratory failure	5/5	OMIM:619334
4703	NEB	HP:0000218	High palate	3/7	OMIM:256030
4703	NEB	HP:0000218	High palate	HP:0040282	ORPHA:399103
4703	NEB	HP:0000218	High palate	HP:0040282	ORPHA:171436
4703	NEB	HP:0000218	High palate	HP:0040283	ORPHA:171439
4703	NEB	HP:0002877	Nocturnal hypoventilation	HP:0040283	ORPHA:171436
4703	NEB	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:399103
4703	NEB	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:171436
4703	NEB	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:171433
4703	NEB	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:171430
4703	NEB	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:171439
4703	NEB	HP:0001561	Polyhydramnios	-	OMIM:256030
4703	NEB	HP:0001561	Polyhydramnios	3/4	OMIM:619334
4703	NEB	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:171433
4703	NEB	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:171430
4703	NEB	HP:0001558	Decreased fetal movement	-	OMIM:256030
4703	NEB	HP:0001558	Decreased fetal movement	5/5	OMIM:619334
4703	NEB	HP:0002857	Genu valgum	HP:0040283	ORPHA:171436
4703	NEB	HP:0001522	Death in infancy	2/5	OMIM:619334
4703	NEB	HP:0001533	Slender build	HP:0040283	ORPHA:171439
4703	NEB	HP:0001533	Slender build	-	OMIM:256030
4703	NEB	HP:0001533	Slender build	HP:0040283	ORPHA:399103
4703	NEB	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040283	ORPHA:171436
4703	NEB	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040283	ORPHA:171436
4703	NEB	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040283	ORPHA:171439
4703	NEB	HP:0030198	Fatigable weakness of distal limb muscles	HP:0040282	ORPHA:171436
4703	NEB	HP:0000369	Low-set ears	-	OMIM:256030
4703	NEB	HP:0000369	Low-set ears	HP:0040283	ORPHA:171433
4703	NEB	HP:0000369	Low-set ears	HP:0040283	ORPHA:171430
4703	NEB	HP:0000343	Long philtrum	-	OMIM:256030
4703	NEB	HP:0000343	Long philtrum	HP:0040283	ORPHA:171433
4703	NEB	HP:0000347	Micrognathia	HP:0040283	ORPHA:171436
4703	NEB	HP:0000347	Micrognathia	HP:0040283	ORPHA:171439
4703	NEB	HP:0000316	Hypertelorism	-	OMIM:256030
4703	NEB	HP:0000316	Hypertelorism	HP:0040283	ORPHA:171433
4703	NEB	HP:0000316	Hypertelorism	HP:0040283	ORPHA:171439
4703	NEB	HP:0001623	Breech presentation	HP:0040282	ORPHA:171430
4703	NEB	HP:0001623	Breech presentation	HP:0040283	ORPHA:171439
4703	NEB	HP:0001622	Premature birth	HP:0040283	ORPHA:171433
4703	NEB	HP:0001622	Premature birth	HP:0040283	ORPHA:171430
4703	NEB	HP:0002970	Genu varum	HP:0040283	ORPHA:171436
4703	NEB	HP:0001638	Cardiomyopathy	-	ORPHA:171433
4703	NEB	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:171439
4703	NEB	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:399103
4703	NEB	HP:0030319	Weakness of facial musculature	6/7	OMIM:256030
4703	NEB	HP:0030319	Weakness of facial musculature	HP:0040283	ORPHA:399103
4703	NEB	HP:0000478	Abnormality of the eye	-	OMIM:256030
4703	NEB	HP:0000470	Short neck	HP:0040283	ORPHA:171436
4703	NEB	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:171439
4703	NEB	HP:0001761	Pes cavus	HP:0040283	ORPHA:171439
4703	NEB	HP:0000508	Ptosis	HP:0040283	ORPHA:171436
4703	NEB	HP:0000508	Ptosis	HP:0040284	ORPHA:171439
4703	NEB	HP:0012548	Fatty replacement of skeletal muscle	3/7	OMIM:256030
4703	NEB	HP:0012548	Fatty replacement of skeletal muscle	HP:0040283	ORPHA:399103
4703	NEB	HP:0001883	Talipes	-	OMIM:256030
4704	NDUFA9	HP:0001272	Cerebellar atrophy	1/1	OMIM:618247
4704	NDUFA9	HP:0001265	Hyporeflexia	-	OMIM:618247
4704	NDUFA9	HP:0001266	Choreoathetosis	1/1	OMIM:618247
4704	NDUFA9	HP:0001260	Dysarthria	-	OMIM:618247
4704	NDUFA9	HP:0002509	Limb hypertonia	-	OMIM:618247
4704	NDUFA9	HP:0001332	Dystonia	1/1	OMIM:618247
4704	NDUFA9	HP:0000007	Autosomal recessive inheritance	-	OMIM:618247
4704	NDUFA9	HP:0002015	Dysphagia	-	OMIM:618247
4704	NDUFA9	HP:0002093	Respiratory insufficiency	1/1	OMIM:618247
4704	NDUFA9	HP:0002059	Cerebral atrophy	1/1	OMIM:618247
4704	NDUFA9	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:618247
4704	NDUFA9	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:618247
4704	NDUFA9	HP:0003693	Distal amyotrophy	-	OMIM:618247
4704	NDUFA9	HP:0002353	EEG abnormality	-	OMIM:618247
4704	NDUFA9	HP:0003648	Lacticaciduria	1/1	OMIM:618247
4704	NDUFA9	HP:0003623	Neonatal onset	1/1	OMIM:618247
4704	NDUFA9	HP:0001942	Metabolic acidosis	1/1	OMIM:618247
4704	NDUFA9	HP:0034295	Reduced cerebral white matter volume	1/1	OMIM:618247
4704	NDUFA9	HP:0032653	Elevated lactate:pyruvate ratio	1/1	OMIM:618247
4704	NDUFA9	HP:0000365	Hearing impairment	1/1	OMIM:618247
4704	NDUFA9	HP:0000510	Rod-cone dystrophy	1/1	OMIM:618247
4705	NDUFA10	HP:0025116	Fetal distress	1/1	OMIM:618243
4705	NDUFA10	HP:0002490	Increased CSF lactate	1/1	OMIM:618243
4705	NDUFA10	HP:0002421	Poor head control	1/1	OMIM:618243
4705	NDUFA10	HP:0001252	Hypotonia	1/1	OMIM:618243
4705	NDUFA10	HP:0001263	Global developmental delay	1/1	OMIM:618243
4705	NDUFA10	HP:0000007	Autosomal recessive inheritance	-	OMIM:618243
4705	NDUFA10	HP:0002093	Respiratory insufficiency	1/1	OMIM:618243
4705	NDUFA10	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:618243
4705	NDUFA10	HP:0003593	Infantile onset	-	OMIM:618243
4705	NDUFA10	HP:0003623	Neonatal onset	1/1	OMIM:618243
4705	NDUFA10	HP:0003128	Lactic acidosis	1/1	OMIM:618243
4705	NDUFA10	HP:0032653	Elevated lactate:pyruvate ratio	1/1	OMIM:618243
4705	NDUFA10	HP:0001511	Intrauterine growth retardation	-	OMIM:618243
4705	NDUFA10	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:618243
4709	NDUFB3	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
4709	NDUFB3	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0003798	Nemaline bodies	1/1	OMIM:618246
4709	NDUFB3	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0001298	Encephalopathy	1/1	OMIM:618246
4709	NDUFB3	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0001252	Hypotonia	1/1	OMIM:618246
4709	NDUFB3	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0001263	Global developmental delay	1/1	OMIM:618246
4709	NDUFB3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:618246
4709	NDUFB3	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
4709	NDUFB3	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:618246
4709	NDUFB3	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
4709	NDUFB3	HP:0011968	Feeding difficulties	1/1	OMIM:618246
4709	NDUFB3	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0000618	Blindness	HP:0040283	ORPHA:2609
4709	NDUFB3	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0030674	Antenatal onset	1/1	OMIM:618246
4709	NDUFB3	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0003198	Myopathy	1/1	OMIM:618246
4709	NDUFB3	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0003128	Lactic acidosis	2/2	OMIM:618246
4709	NDUFB3	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
4709	NDUFB3	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
4709	NDUFB3	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0001508	Failure to thrive	1/1	OMIM:618246
4709	NDUFB3	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0001511	Intrauterine growth retardation	1/1	OMIM:618246
4709	NDUFB3	HP:0001622	Premature birth	1/1	OMIM:618246
4709	NDUFB3	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
4709	NDUFB3	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
4713	NDUFB7	HP:0000047	Hypospadias	1/1	OMIM:620135
4713	NDUFB7	HP:0000028	Cryptorchidism	1/1	OMIM:620135
4713	NDUFB7	HP:0000007	Autosomal recessive inheritance	-	OMIM:620135
4713	NDUFB7	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:620135
4713	NDUFB7	HP:0001903	Anemia	1/1	OMIM:620135
4713	NDUFB7	HP:0006989	Dysplastic corpus callosum	1/1	OMIM:620135
4713	NDUFB7	HP:0034198	Second trimester onset	1/1	OMIM:620135
4713	NDUFB7	HP:0012707	Elevated brain lactate level by MRS	1/1	OMIM:620135
4713	NDUFB7	HP:0012708	Reduced brain N-acetyl aspartate level by MRS	1/1	OMIM:620135
4713	NDUFB7	HP:0003128	Lactic acidosis	1/1	OMIM:620135
4713	NDUFB7	HP:0011682	Perimembranous ventricular septal defect	1/1	OMIM:620135
4713	NDUFB7	HP:0001562	Oligohydramnios	1/1	OMIM:620135
4713	NDUFB7	HP:0001518	Small for gestational age	1/1	OMIM:620135
4713	NDUFB7	HP:0001511	Intrauterine growth retardation	1/1	OMIM:620135
4713	NDUFB7	HP:0001640	Cardiomegaly	1/1	OMIM:620135
4713	NDUFB7	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:620135
4713	NDUFB7	HP:0001631	Atrial septal defect	1/1	OMIM:620135
4714	NDUFB8	HP:0002490	Increased CSF lactate	4/4	OMIM:618252
4714	NDUFB8	HP:0001290	Generalized hypotonia	2/2	OMIM:618252
4714	NDUFB8	HP:0001250	Seizure	1/2	OMIM:618252
4714	NDUFB8	HP:0001263	Global developmental delay	2/2	OMIM:618252
4714	NDUFB8	HP:0003819	Death in childhood	1/2	OMIM:618252
4714	NDUFB8	HP:0000007	Autosomal recessive inheritance	-	OMIM:618252
4714	NDUFB8	HP:0002013	Vomiting	1/2	OMIM:618252
4714	NDUFB8	HP:0002059	Cerebral atrophy	1/2	OMIM:618252
4714	NDUFB8	HP:0010479	Patent urachus	1/2	OMIM:618252
4714	NDUFB8	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:618252
4714	NDUFB8	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:618252
4714	NDUFB8	HP:0003593	Infantile onset	2/2	OMIM:618252
4714	NDUFB8	HP:0001942	Metabolic acidosis	2/2	OMIM:618252
4714	NDUFB8	HP:0003202	Skeletal muscle atrophy	1/2	OMIM:618252
4714	NDUFB8	HP:0002878	Respiratory failure	1/2	OMIM:618252
4714	NDUFB8	HP:0001508	Failure to thrive	1/2	OMIM:618252
4714	NDUFB8	HP:0001518	Small for gestational age	1/2	OMIM:618252
4714	NDUFB8	HP:0002902	Hyponatremia	1/2	OMIM:618252
4715	NDUFB9	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
4715	NDUFB9	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0001252	Hypotonia	1/1	OMIM:618245
4715	NDUFB9	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0000007	Autosomal recessive inheritance	-	OMIM:618245
4715	NDUFB9	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:618245
4715	NDUFB9	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
4715	NDUFB9	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:618245
4715	NDUFB9	HP:0003593	Infantile onset	1/1	OMIM:618245
4715	NDUFB9	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
4715	NDUFB9	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0003676	Progressive	-	OMIM:618245
4715	NDUFB9	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0000618	Blindness	HP:0040283	ORPHA:2609
4715	NDUFB9	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
4715	NDUFB9	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
4715	NDUFB9	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
4715	NDUFB9	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
4716	NDUFB10	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0003811	Neonatal death	1/1	OMIM:619003
4716	NDUFB10	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0000007	Autosomal recessive inheritance	-	OMIM:619003
4716	NDUFB10	HP:0002643	Neonatal respiratory distress	1/1	OMIM:619003
4716	NDUFB10	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0032528	Elevated urinary 4-hydroxybutyric acid	1/1	OMIM:619003
4716	NDUFB10	HP:0003348	Hyperalaninemia	1/1	OMIM:619003
4716	NDUFB10	HP:0005989	Redundant neck skin	1/1	OMIM:619003
4716	NDUFB10	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0002089	Pulmonary hypoplasia	1/1	OMIM:619003
4716	NDUFB10	HP:0002092	Pulmonary arterial hypertension	1/1	OMIM:619003
4716	NDUFB10	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
4716	NDUFB10	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:619003
4716	NDUFB10	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0008358	Hyperprolinemia	1/1	OMIM:619003
4716	NDUFB10	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
4716	NDUFB10	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0003648	Lacticaciduria	1/1	OMIM:619003
4716	NDUFB10	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0000618	Blindness	HP:0040283	ORPHA:2609
4716	NDUFB10	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0001942	Metabolic acidosis	1/1	OMIM:619003
4716	NDUFB10	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0003128	Lactic acidosis	1/1	OMIM:619003
4716	NDUFB10	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
4716	NDUFB10	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
4716	NDUFB10	HP:0032653	Elevated lactate:pyruvate ratio	1/1	OMIM:619003
4716	NDUFB10	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0001511	Intrauterine growth retardation	1/1	OMIM:619003
4716	NDUFB10	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0001638	Cardiomyopathy	1/1	OMIM:619003
4716	NDUFB10	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0001790	Nonimmune hydrops fetalis	1/1	OMIM:619003
4716	NDUFB10	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
4716	NDUFB10	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
4718	NDUFC2	HP:0001250	Seizure	2/3	OMIM:619170
4718	NDUFC2	HP:0001263	Global developmental delay	3/3	OMIM:619170
4718	NDUFC2	HP:0001257	Spasticity	2/3	OMIM:619170
4718	NDUFC2	HP:0002509	Limb hypertonia	1/3	OMIM:619170
4718	NDUFC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619170
4718	NDUFC2	HP:0008936	Axial hypotonia	1/3	OMIM:619170
4718	NDUFC2	HP:0002783	Recurrent lower respiratory tract infections	1/3	OMIM:619170
4718	NDUFC2	HP:0003348	Hyperalaninemia	1/3	OMIM:619170
4718	NDUFC2	HP:0002151	Increased circulating lactate concentration	3/3	OMIM:619170
4718	NDUFC2	HP:0011923	Decreased activity of mitochondrial complex I	3/3	OMIM:619170
4718	NDUFC2	HP:0003593	Infantile onset	1/3	OMIM:619170
4718	NDUFC2	HP:0002280	Enlarged cisterna magna	1/3	OMIM:619170
4718	NDUFC2	HP:0008358	Hyperprolinemia	1/3	OMIM:619170
4718	NDUFC2	HP:0002376	Developmental regression	1/3	OMIM:619170
4718	NDUFC2	HP:0006970	Periventricular leukomalacia	2/3	OMIM:619170
4718	NDUFC2	HP:0030674	Antenatal onset	1/3	OMIM:619170
4718	NDUFC2	HP:0011463	Childhood onset	1/3	OMIM:619170
4718	NDUFC2	HP:0000817	Reduced eye contact	1/3	OMIM:619170
4718	NDUFC2	HP:0011682	Perimembranous ventricular septal defect	1/3	OMIM:619170
4718	NDUFC2	HP:0000252	Microcephaly	1/3	OMIM:619170
4718	NDUFC2	HP:0001640	Cardiomegaly	1/3	OMIM:619170
4718	NDUFC2	HP:0000543	Optic disc pallor	1/3	OMIM:619170
4719	NDUFS1	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
4719	NDUFS1	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0002490	Increased CSF lactate	3/3	OMIM:618226
4719	NDUFS1	HP:0002465	Poor speech	-	OMIM:618226
4719	NDUFS1	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0002415	Leukodystrophy	1/3	OMIM:618226
4719	NDUFS1	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0001290	Generalized hypotonia	-	OMIM:618226
4719	NDUFS1	HP:0001272	Cerebellar atrophy	-	OMIM:618226
4719	NDUFS1	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0001254	Lethargy	-	OMIM:618226
4719	NDUFS1	HP:0001250	Seizure	1/3	OMIM:618226
4719	NDUFS1	HP:0001252	Hypotonia	3/3	OMIM:618226
4719	NDUFS1	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0001251	Ataxia	2/3	OMIM:618226
4719	NDUFS1	HP:0001263	Global developmental delay	1/3	OMIM:618226
4719	NDUFS1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0002572	Episodic vomiting	1/3	OMIM:618226
4719	NDUFS1	HP:0001347	Hyperreflexia	-	OMIM:618226
4719	NDUFS1	HP:0001332	Dystonia	1/3	OMIM:618226
4719	NDUFS1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618226
4719	NDUFS1	HP:0008936	Axial hypotonia	1/3	OMIM:618226
4719	NDUFS1	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0002015	Dysphagia	-	OMIM:618226
4719	NDUFS1	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0002013	Vomiting	-	OMIM:618226
4719	NDUFS1	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0002093	Respiratory insufficiency	-	OMIM:618226
4719	NDUFS1	HP:0003487	Babinski sign	-	OMIM:618226
4719	NDUFS1	HP:0002151	Increased circulating lactate concentration	3/3	OMIM:618226
4719	NDUFS1	HP:0002104	Apnea	1/3	OMIM:618226
4719	NDUFS1	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
4719	NDUFS1	HP:0011923	Decreased activity of mitochondrial complex I	3/3	OMIM:618226
4719	NDUFS1	HP:0003593	Infantile onset	2/3	OMIM:618226
4719	NDUFS1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0002240	Hepatomegaly	1/3	OMIM:618226
4719	NDUFS1	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
4719	NDUFS1	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0002376	Developmental regression	1/3	OMIM:618226
4719	NDUFS1	HP:0003676	Progressive	-	OMIM:618226
4719	NDUFS1	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0002352	Leukoencephalopathy	-	OMIM:618226
4719	NDUFS1	HP:0003623	Neonatal onset	1/3	OMIM:618226
4719	NDUFS1	HP:0007183	Focal T2 hyperintense basal ganglia lesion	1/3	OMIM:618226
4719	NDUFS1	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0000639	Nystagmus	1/3	OMIM:618226
4719	NDUFS1	HP:0000648	Optic atrophy	1/3	OMIM:618226
4719	NDUFS1	HP:0000618	Blindness	HP:0040283	ORPHA:2609
4719	NDUFS1	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0001942	Metabolic acidosis	2/3	OMIM:618226
4719	NDUFS1	HP:0000602	Ophthalmoplegia	1/3	OMIM:618226
4719	NDUFS1	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0000737	Irritability	-	OMIM:618226
4719	NDUFS1	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0003128	Lactic acidosis	1/3	OMIM:618226
4719	NDUFS1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
4719	NDUFS1	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0000253	Progressive microcephaly	HP:0040284	OMIM:618226
4719	NDUFS1	HP:0000252	Microcephaly	1/3	OMIM:618226
4719	NDUFS1	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
4719	NDUFS1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0001508	Failure to thrive	1/3	OMIM:618226
4719	NDUFS1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0001510	Growth delay	1/3	OMIM:618226
4719	NDUFS1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0000486	Strabismus	2/3	OMIM:618226
4719	NDUFS1	HP:0012444	Brain atrophy	-	OMIM:618226
4719	NDUFS1	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
4719	NDUFS1	HP:0000508	Ptosis	2/3	OMIM:618226
4719	NDUFS1	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
4720	NDUFS2	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0007256	Abnormal pyramidal sign	1/6	OMIM:618228
4720	NDUFS2	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0001290	Generalized hypotonia	2/6	OMIM:618228
4720	NDUFS2	HP:0001270	Motor delay	3/6	OMIM:618228
4720	NDUFS2	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0001254	Lethargy	1/6	OMIM:618228
4720	NDUFS2	HP:0001252	Hypotonia	1/6	OMIM:618228
4720	NDUFS2	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0001251	Ataxia	HP:0040283	ORPHA:104
4720	NDUFS2	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0001251	Ataxia	1/6	OMIM:618228
4720	NDUFS2	HP:0001263	Global developmental delay	1/6	OMIM:618228
4720	NDUFS2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0001347	Hyperreflexia	1/6	OMIM:618228
4720	NDUFS2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618228
4720	NDUFS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620569
4720	NDUFS2	HP:0008936	Axial hypotonia	2/6	OMIM:618228
4720	NDUFS2	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0002013	Vomiting	3/6	OMIM:618228
4720	NDUFS2	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0002093	Respiratory insufficiency	-	OMIM:618228
4720	NDUFS2	HP:0002151	Increased circulating lactate concentration	3/6	OMIM:618228
4720	NDUFS2	HP:0002119	Ventriculomegaly	1/6	OMIM:618228
4720	NDUFS2	HP:0002104	Apnea	1/6	OMIM:618228
4720	NDUFS2	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
4720	NDUFS2	HP:0011923	Decreased activity of mitochondrial complex I	6/6	OMIM:618228
4720	NDUFS2	HP:0002174	Postural tremor	HP:0040283	ORPHA:104
4720	NDUFS2	HP:0010535	Sleep apnea	1/6	OMIM:618228
4720	NDUFS2	HP:0003593	Infantile onset	4/6	OMIM:618228
4720	NDUFS2	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0200125	Mitochondrial respiratory chain defects	HP:0040281	ORPHA:104
4720	NDUFS2	HP:0032036	Reduced contrast sensitivity	HP:0040283	ORPHA:104
4720	NDUFS2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
4720	NDUFS2	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0002376	Developmental regression	1/6	OMIM:618228
4720	NDUFS2	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:104
4720	NDUFS2	HP:0020120	Retinal nerve fiber edema	HP:0040283	ORPHA:104
4720	NDUFS2	HP:0003623	Neonatal onset	2/6	OMIM:618228
4720	NDUFS2	HP:0003621	Juvenile onset	2/3	OMIM:620569
4720	NDUFS2	HP:0004900	Severe lactic acidosis	1/6	OMIM:618228
4720	NDUFS2	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0000639	Nystagmus	3/6	OMIM:618228
4720	NDUFS2	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:104
4720	NDUFS2	HP:0000648	Optic atrophy	HP:0040282	ORPHA:104
4720	NDUFS2	HP:0000648	Optic atrophy	1/6	OMIM:618228
4720	NDUFS2	HP:0000648	Optic atrophy	3/3	OMIM:620569
4720	NDUFS2	HP:0000642	Red-green dyschromatopsia	3/3	OMIM:620569
4720	NDUFS2	HP:0000618	Blindness	HP:0040283	ORPHA:2609
4720	NDUFS2	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0001942	Metabolic acidosis	1/6	OMIM:618228
4720	NDUFS2	HP:0000622	Blurred vision	HP:0040282	ORPHA:104
4720	NDUFS2	HP:0000603	Central scotoma	HP:0040282	ORPHA:104
4720	NDUFS2	HP:0000666	Horizontal nystagmus	2/6	OMIM:618228
4720	NDUFS2	HP:0004309	Ventricular preexcitation	HP:0040283	ORPHA:104
4720	NDUFS2	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0003198	Myopathy	HP:0040283	ORPHA:104
4720	NDUFS2	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0003128	Lactic acidosis	6/6	OMIM:618228
4720	NDUFS2	HP:0012841	Retinal vascular tortuosity	HP:0040282	ORPHA:104
4720	NDUFS2	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
4720	NDUFS2	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0003202	Skeletal muscle atrophy	1/6	OMIM:618228
4720	NDUFS2	HP:0011675	Arrhythmia	HP:0040283	ORPHA:104
4720	NDUFS2	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0007763	Retinal telangiectasia	HP:0040282	ORPHA:104
4720	NDUFS2	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
4720	NDUFS2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0001508	Failure to thrive	4/6	OMIM:618228
4720	NDUFS2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0001639	Hypertrophic cardiomyopathy	2/6	OMIM:618228
4720	NDUFS2	HP:0007924	Slow decrease in visual acuity	HP:0040281	ORPHA:104
4720	NDUFS2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0001712	Left ventricular hypertrophy	1/6	OMIM:618228
4720	NDUFS2	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0012444	Brain atrophy	-	OMIM:618228
4720	NDUFS2	HP:0025709	Intermediate young adult onset	1/3	OMIM:620569
4720	NDUFS2	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:104
4720	NDUFS2	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:104
4720	NDUFS2	HP:0000529	Progressive visual loss	3/3	OMIM:620569
4720	NDUFS2	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0000576	Centrocecal scotoma	3/3	OMIM:620569
4720	NDUFS2	HP:0000576	Centrocecal scotoma	HP:0040282	ORPHA:104
4720	NDUFS2	HP:0000551	Color vision defect	HP:0040283	ORPHA:104
4720	NDUFS2	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
4720	NDUFS2	HP:0000543	Optic disc pallor	1/6	OMIM:618228
4722	NDUFS3	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
4722	NDUFS3	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0002490	Increased CSF lactate	1/1	OMIM:618230
4722	NDUFS3	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0001298	Encephalopathy	-	OMIM:618230
4722	NDUFS3	HP:0001290	Generalized hypotonia	-	OMIM:618230
4722	NDUFS3	HP:0025258	Stiff neck	1/1	OMIM:618230
4722	NDUFS3	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0002530	Axial dystonia	1/1	OMIM:618230
4722	NDUFS3	HP:0001332	Dystonia	-	OMIM:618230
4722	NDUFS3	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0000007	Autosomal recessive inheritance	-	OMIM:618230
4722	NDUFS3	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0002751	Kyphoscoliosis	1/1	OMIM:618230
4722	NDUFS3	HP:0002015	Dysphagia	-	OMIM:618230
4722	NDUFS3	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0002093	Respiratory insufficiency	-	OMIM:618230
4722	NDUFS3	HP:0002151	Increased circulating lactate concentration	-	OMIM:618230
4722	NDUFS3	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
4722	NDUFS3	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:618230
4722	NDUFS3	HP:0002273	Tetraparesis	-	OMIM:618230
4722	NDUFS3	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
4722	NDUFS3	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0003621	Juvenile onset	1/1	OMIM:618230
4722	NDUFS3	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0000618	Blindness	HP:0040283	ORPHA:2609
4722	NDUFS3	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0003128	Lactic acidosis	-	OMIM:618230
4722	NDUFS3	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
4722	NDUFS3	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
4722	NDUFS3	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0001733	Pancreatitis	-	OMIM:618230
4722	NDUFS3	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
4722	NDUFS3	HP:0000543	Optic disc pallor	1/1	OMIM:618230
4723	NDUFV1	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
4723	NDUFV1	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0002490	Increased CSF lactate	3/3	OMIM:618225
4723	NDUFV1	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0002415	Leukodystrophy	1/2	OMIM:618225
4723	NDUFV1	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0001254	Lethargy	-	OMIM:618225
4723	NDUFV1	HP:0001250	Seizure	-	OMIM:618225
4723	NDUFV1	HP:0001252	Hypotonia	3/3	OMIM:618225
4723	NDUFV1	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0001251	Ataxia	-	OMIM:618225
4723	NDUFV1	HP:0001263	Global developmental delay	-	OMIM:618225
4723	NDUFV1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0001257	Spasticity	1/2	OMIM:618225
4723	NDUFV1	HP:0003819	Death in childhood	1/3	OMIM:618225
4723	NDUFV1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618225
4723	NDUFV1	HP:0001336	Myoclonus	-	OMIM:618225
4723	NDUFV1	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0002013	Vomiting	2/3	OMIM:618225
4723	NDUFV1	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0002151	Increased circulating lactate concentration	2/3	OMIM:618225
4723	NDUFV1	HP:0002104	Apnea	-	OMIM:618225
4723	NDUFV1	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
4723	NDUFV1	HP:0011923	Decreased activity of mitochondrial complex I	3/3	OMIM:618225
4723	NDUFV1	HP:0003593	Infantile onset	3/3	OMIM:618225
4723	NDUFV1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0003542	Increased circulating pyruvate concentration	2/2	OMIM:618225
4723	NDUFV1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
4723	NDUFV1	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0002376	Developmental regression	2/3	OMIM:618225
4723	NDUFV1	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0000618	Blindness	HP:0040283	ORPHA:2609
4723	NDUFV1	HP:0000618	Blindness	1/1	OMIM:618225
4723	NDUFV1	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0001942	Metabolic acidosis	-	OMIM:618225
4723	NDUFV1	HP:0000602	Ophthalmoplegia	-	OMIM:618225
4723	NDUFV1	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
4723	NDUFV1	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0000256	Macrocephaly	1/2	OMIM:618225
4723	NDUFV1	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
4723	NDUFV1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0032794	Myoclonic seizure	3/3	OMIM:618225
4723	NDUFV1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0000486	Strabismus	2/3	OMIM:618225
4723	NDUFV1	HP:0012444	Brain atrophy	3/3	OMIM:618225
4723	NDUFV1	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
4723	NDUFV1	HP:0000508	Ptosis	-	OMIM:618225
4723	NDUFV1	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
4724	NDUFS4	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0002490	Increased CSF lactate	2/2	OMIM:252010
4724	NDUFS4	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0001138	Optic neuropathy	-	OMIM:252010
4724	NDUFS4	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0002421	Poor head control	-	OMIM:252010
4724	NDUFS4	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0002415	Leukodystrophy	-	OMIM:252010
4724	NDUFS4	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0001272	Cerebellar atrophy	-	OMIM:252010
4724	NDUFS4	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0001254	Lethargy	2/2	OMIM:252010
4724	NDUFS4	HP:0001252	Hypotonia	3/3	OMIM:252010
4724	NDUFS4	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0001251	Ataxia	-	OMIM:252010
4724	NDUFS4	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0001265	Hyporeflexia	-	OMIM:252010
4724	NDUFS4	HP:0001263	Global developmental delay	1/1	OMIM:252010
4724	NDUFS4	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0001257	Spasticity	-	OMIM:252010
4724	NDUFS4	HP:0001259	Coma	-	OMIM:252010
4724	NDUFS4	HP:0001399	Hepatic failure	-	OMIM:252010
4724	NDUFS4	HP:0000047	Hypospadias	1/1	OMIM:252010
4724	NDUFS4	HP:0001347	Hyperreflexia	-	OMIM:252010
4724	NDUFS4	HP:0008872	Feeding difficulties in infancy	2/2	OMIM:252010
4724	NDUFS4	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0001324	Muscle weakness	-	OMIM:252010
4724	NDUFS4	HP:0000007	Autosomal recessive inheritance	-	OMIM:252010
4724	NDUFS4	HP:0001308	Tongue fasciculations	1/1	OMIM:252010
4724	NDUFS4	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0001427	Mitochondrial inheritance	-	OMIM:252010
4724	NDUFS4	HP:0003348	Hyperalaninemia	2/2	OMIM:252010
4724	NDUFS4	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0002013	Vomiting	1/1	OMIM:252010
4724	NDUFS4	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0002093	Respiratory insufficiency	-	OMIM:252010
4724	NDUFS4	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:252010
4724	NDUFS4	HP:0008160	3-hydroxydicarboxylic aciduria	1/2	OMIM:252010
4724	NDUFS4	HP:0003487	Babinski sign	-	OMIM:252010
4724	NDUFS4	HP:0002104	Apnea	1/1	OMIM:252010
4724	NDUFS4	HP:0011924	Decreased activity of mitochondrial complex III	2/2	OMIM:252010
4724	NDUFS4	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
4724	NDUFS4	HP:0011923	Decreased activity of mitochondrial complex I	3/3	OMIM:252010
4724	NDUFS4	HP:0002181	Cerebral edema	-	OMIM:252010
4724	NDUFS4	HP:0003593	Infantile onset	2/2	OMIM:252010
4724	NDUFS4	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0002240	Hepatomegaly	1/2	OMIM:252010
4724	NDUFS4	HP:0003546	Exercise intolerance	-	OMIM:252010
4724	NDUFS4	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
4724	NDUFS4	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0002376	Developmental regression	-	OMIM:252010
4724	NDUFS4	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0002352	Leukoencephalopathy	-	OMIM:252010
4724	NDUFS4	HP:0003648	Lacticaciduria	1/2	OMIM:252010
4724	NDUFS4	HP:0100660	Dyskinesia	-	OMIM:252010
4724	NDUFS4	HP:0007183	Focal T2 hyperintense basal ganglia lesion	1/2	OMIM:252010
4724	NDUFS4	HP:0004900	Severe lactic acidosis	1/1	OMIM:252010
4724	NDUFS4	HP:0000639	Nystagmus	-	OMIM:252010
4724	NDUFS4	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0000618	Blindness	HP:0040283	ORPHA:2609
4724	NDUFS4	HP:0000618	Blindness	-	OMIM:252010
4724	NDUFS4	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0001943	Hypoglycemia	-	OMIM:252010
4724	NDUFS4	HP:0006965	Acute necrotizing encephalopathy	-	OMIM:252010
4724	NDUFS4	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0012752	Focal T2 hypointense basal ganglia lesion	1/2	OMIM:252010
4724	NDUFS4	HP:0004481	Progressive macrocephaly	-	OMIM:252010
4724	NDUFS4	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0003128	Lactic acidosis	2/2	OMIM:252010
4724	NDUFS4	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
4724	NDUFS4	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0000817	Reduced eye contact	2/2	OMIM:252010
4724	NDUFS4	HP:0003202	Skeletal muscle atrophy	-	OMIM:252010
4724	NDUFS4	HP:0003200	Ragged-red muscle fibers	1/3	OMIM:252010
4724	NDUFS4	HP:0000961	Cyanosis	1/1	OMIM:252010
4724	NDUFS4	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0012240	Increased intramyocellular lipid droplets	2/3	OMIM:252010
4724	NDUFS4	HP:0000252	Microcephaly	1/2	OMIM:252010
4724	NDUFS4	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
4724	NDUFS4	HP:0032653	Elevated lactate:pyruvate ratio	1/2	OMIM:252010
4724	NDUFS4	HP:0002878	Respiratory failure	2/2	OMIM:252010
4724	NDUFS4	HP:0001522	Death in infancy	2/2	OMIM:252010
4724	NDUFS4	HP:0001508	Failure to thrive	3/3	OMIM:252010
4724	NDUFS4	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0001510	Growth delay	-	OMIM:252010
4724	NDUFS4	HP:0002922	Increased CSF protein concentration	1/2	OMIM:252010
4724	NDUFS4	HP:0005157	Concentric hypertrophic cardiomyopathy	1/2	OMIM:252010
4724	NDUFS4	HP:0000331	Short chin	1/2	OMIM:252010
4724	NDUFS4	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:252010
4724	NDUFS4	HP:0007965	Undetectable visual evoked potentials	2/2	OMIM:252010
4724	NDUFS4	HP:0000407	Sensorineural hearing impairment	-	OMIM:252010
4724	NDUFS4	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0000486	Strabismus	-	OMIM:252010
4724	NDUFS4	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0001744	Splenomegaly	1/2	OMIM:252010
4724	NDUFS4	HP:0000508	Ptosis	-	OMIM:252010
4724	NDUFS4	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0000582	Upslanted palpebral fissure	1/2	OMIM:252010
4724	NDUFS4	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
4724	NDUFS4	HP:0000543	Optic disc pallor	-	OMIM:252010
4726	NDUFS6	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
4726	NDUFS6	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0001298	Encephalopathy	-	OMIM:618232
4726	NDUFS6	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0001254	Lethargy	-	OMIM:618232
4726	NDUFS6	HP:0001250	Seizure	HP:0040284	OMIM:618232
4726	NDUFS6	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0003811	Neonatal death	2/2	OMIM:618232
4726	NDUFS6	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0000007	Autosomal recessive inheritance	-	OMIM:618232
4726	NDUFS6	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0002791	Hypoventilation	-	OMIM:618232
4726	NDUFS6	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0005957	Breathing dysregulation	-	OMIM:618232
4726	NDUFS6	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
4726	NDUFS6	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:618232
4726	NDUFS6	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
4726	NDUFS6	HP:0011968	Feeding difficulties	-	OMIM:618232
4726	NDUFS6	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0003623	Neonatal onset	2/2	OMIM:618232
4726	NDUFS6	HP:0006829	Severe muscular hypotonia	-	OMIM:618232
4726	NDUFS6	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0000639	Nystagmus	-	OMIM:618232
4726	NDUFS6	HP:0000618	Blindness	HP:0040283	ORPHA:2609
4726	NDUFS6	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0003128	Lactic acidosis	2/2	OMIM:618232
4726	NDUFS6	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
4726	NDUFS6	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
4726	NDUFS6	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
4726	NDUFS6	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
4728	NDUFS8	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0002476	Primitive reflex	1/1	OMIM:618222
4728	NDUFS8	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0001288	Gait disturbance	-	OMIM:618222
4728	NDUFS8	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0001250	Seizure	-	OMIM:618222
4728	NDUFS8	HP:0001252	Hypotonia	1/1	OMIM:618222
4728	NDUFS8	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0001260	Dysarthria	1/1	OMIM:618222
4728	NDUFS8	HP:0001263	Global developmental delay	HP:0040284	OMIM:618222
4728	NDUFS8	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0002527	Falls	1/1	OMIM:618222
4728	NDUFS8	HP:0001348	Brisk reflexes	1/1	OMIM:618222
4728	NDUFS8	HP:0001347	Hyperreflexia	-	OMIM:618222
4728	NDUFS8	HP:0001332	Dystonia	1/1	OMIM:618222
4728	NDUFS8	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0000007	Autosomal recessive inheritance	-	OMIM:618222
4728	NDUFS8	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0002033	Poor suck	1/1	OMIM:618222
4728	NDUFS8	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0005949	Apneic episodes in infancy	1/1	OMIM:618222
4728	NDUFS8	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0002093	Respiratory insufficiency	-	OMIM:618222
4728	NDUFS8	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:618222
4728	NDUFS8	HP:0002119	Ventriculomegaly	1/1	OMIM:618222
4728	NDUFS8	HP:0002104	Apnea	-	OMIM:618222
4728	NDUFS8	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
4728	NDUFS8	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:618222
4728	NDUFS8	HP:0002171	Gliosis	1/1	OMIM:618222
4728	NDUFS8	HP:0010544	Vertical nystagmus	1/1	OMIM:618222
4728	NDUFS8	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0003542	Increased circulating pyruvate concentration	1/1	OMIM:618222
4728	NDUFS8	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
4728	NDUFS8	HP:0011968	Feeding difficulties	1/1	OMIM:618222
4728	NDUFS8	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0002329	Drowsiness	1/1	OMIM:618222
4728	NDUFS8	HP:0100660	Dyskinesia	-	OMIM:618222
4728	NDUFS8	HP:0003623	Neonatal onset	1/1	OMIM:618222
4728	NDUFS8	HP:0003621	Juvenile onset	1/1	OMIM:618222
4728	NDUFS8	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0000639	Nystagmus	-	OMIM:618222
4728	NDUFS8	HP:0000618	Blindness	HP:0040283	ORPHA:2609
4728	NDUFS8	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0011448	Ankle clonus	1/1	OMIM:618222
4728	NDUFS8	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
4728	NDUFS8	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
4728	NDUFS8	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0001612	Weak cry	1/1	OMIM:618222
4728	NDUFS8	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:618222
4728	NDUFS8	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0012416	Hypercapnia	1/1	OMIM:618222
4728	NDUFS8	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
4728	NDUFS8	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
4729	NDUFV2	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0001298	Encephalopathy	1/1	OMIM:618229
4729	NDUFV2	HP:0001290	Generalized hypotonia	-	OMIM:618229
4729	NDUFV2	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0001257	Spasticity	-	OMIM:618229
4729	NDUFV2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618229
4729	NDUFV2	HP:0008936	Axial hypotonia	1/1	OMIM:618229
4729	NDUFV2	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
4729	NDUFV2	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:618229
4729	NDUFV2	HP:0003593	Infantile onset	-	OMIM:618229
4729	NDUFV2	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
4729	NDUFV2	HP:0011968	Feeding difficulties	1/1	OMIM:618229
4729	NDUFV2	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0002376	Developmental regression	-	OMIM:618229
4729	NDUFV2	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0003623	Neonatal onset	1/1	OMIM:618229
4729	NDUFV2	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0000639	Nystagmus	-	OMIM:618229
4729	NDUFV2	HP:0000648	Optic atrophy	-	OMIM:618229
4729	NDUFV2	HP:0000618	Blindness	HP:0040283	ORPHA:2609
4729	NDUFV2	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0003128	Lactic acidosis	1/1	OMIM:618229
4729	NDUFV2	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
4729	NDUFV2	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0000252	Microcephaly	-	OMIM:618229
4729	NDUFV2	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
4729	NDUFV2	HP:0001522	Death in infancy	1/1	OMIM:618229
4729	NDUFV2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0001508	Failure to thrive	1/1	OMIM:618229
4729	NDUFV2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0001639	Hypertrophic cardiomyopathy	2/2	OMIM:618229
4729	NDUFV2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0012444	Brain atrophy	-	OMIM:618229
4729	NDUFV2	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
4729	NDUFV2	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
4733	DRG1	HP:0002475	Myelomeningocele	1/4	OMIM:620641
4733	DRG1	HP:0009891	Underdeveloped supraorbital ridges	4/4	OMIM:620641
4733	DRG1	HP:0001250	Seizure	1/4	OMIM:620641
4733	DRG1	HP:0001257	Spasticity	2/4	OMIM:620641
4733	DRG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620641
4733	DRG1	HP:0002719	Recurrent infections	1/2	OMIM:620641
4733	DRG1	HP:0003577	Congenital onset	4/4	OMIM:620641
4733	DRG1	HP:0010702	Increased circulating immunoglobulin concentration	1/2	OMIM:620641
4733	DRG1	HP:0003508	Proportionate short stature	4/4	OMIM:620641
4733	DRG1	HP:0010764	Short eyelashes	3/4	OMIM:620641
4733	DRG1	HP:0000687	Widely spaced teeth	4/4	OMIM:620641
4733	DRG1	HP:0012745	Short palpebral fissure	4/4	OMIM:620641
4733	DRG1	HP:0012758	Neurodevelopmental delay	4/4	OMIM:620641
4733	DRG1	HP:0000958	Dry skin	3/4	OMIM:620641
4733	DRG1	HP:0000964	Eczematoid dermatitis	4/4	OMIM:620641
4733	DRG1	HP:0000252	Microcephaly	4/4	OMIM:620641
4733	DRG1	HP:0000248	Brachycephaly	4/4	OMIM:620641
4733	DRG1	HP:0000232	Everted lower lip vermilion	3/4	OMIM:620641
4733	DRG1	HP:0001508	Failure to thrive	4/4	OMIM:620641
4733	DRG1	HP:0001511	Intrauterine growth retardation	4/4	OMIM:620641
4733	DRG1	HP:0012385	Camptodactyly	4/4	OMIM:620641
4733	DRG1	HP:0000358	Posteriorly rotated ears	3/4	OMIM:620641
4733	DRG1	HP:0000369	Low-set ears	4/4	OMIM:620641
4733	DRG1	HP:0001762	Talipes equinovarus	3/4	OMIM:620641
4733	DRG1	HP:0000431	Wide nasal bridge	4/4	OMIM:620641
4733	DRG1	HP:0001890	Autoimmune hemolytic anemia	1/2	OMIM:620641
4733	DRG1	HP:0011220	Prominent forehead	4/4	OMIM:620641
4744	NEFH	HP:0002495	Impaired vibratory sensation	2/4	OMIM:616924
4744	NEFH	HP:0002463	Language impairment	HP:0040283	ORPHA:803
4744	NEFH	HP:0007210	Lower limb amyotrophy	4/4	OMIM:616924
4744	NEFH	HP:0003701	Proximal muscle weakness	HP:0040283	OMIM:616924
4744	NEFH	HP:0001265	Hyporeflexia	-	OMIM:616924
4744	NEFH	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
4744	NEFH	HP:0001260	Dysarthria	-	OMIM:105400
4744	NEFH	HP:0001257	Spasticity	HP:0040282	ORPHA:803
4744	NEFH	HP:0001257	Spasticity	-	OMIM:105400
4744	NEFH	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
4744	NEFH	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
4744	NEFH	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:105400
4744	NEFH	HP:0007340	Lower limb muscle weakness	4/4	OMIM:616924
4744	NEFH	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
4744	NEFH	HP:0002515	Waddling gait	-	OMIM:616924
4744	NEFH	HP:0003828	Variable expressivity	-	OMIM:616924
4744	NEFH	HP:0003805	Rimmed vacuoles	-	OMIM:616924
4744	NEFH	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
4744	NEFH	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
4744	NEFH	HP:0001347	Hyperreflexia	-	OMIM:105400
4744	NEFH	HP:0001324	Muscle weakness	-	OMIM:105400
4744	NEFH	HP:0000007	Autosomal recessive inheritance	-	OMIM:105400
4744	NEFH	HP:0000006	Autosomal dominant inheritance	-	OMIM:105400
4744	NEFH	HP:0000006	Autosomal dominant inheritance	-	OMIM:616924
4744	NEFH	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
4744	NEFH	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
4744	NEFH	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
4744	NEFH	HP:0002021	Pyloric stenosis	-	OMIM:616924
4744	NEFH	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
4744	NEFH	HP:0002015	Dysphagia	-	OMIM:105400
4744	NEFH	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
4744	NEFH	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
4744	NEFH	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
4744	NEFH	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
4744	NEFH	HP:0003394	Muscle spasm	-	OMIM:105400
4744	NEFH	HP:0003390	Sensory axonal neuropathy	-	OMIM:616924
4744	NEFH	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
4744	NEFH	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
4744	NEFH	HP:0003474	Somatic sensory dysfunction	-	OMIM:616924
4744	NEFH	HP:0003470	Paralysis	HP:0040282	ORPHA:803
4744	NEFH	HP:0003487	Babinski sign	4/4	OMIM:616924
4744	NEFH	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
4744	NEFH	HP:0003484	Upper limb muscle weakness	3/4	OMIM:616924
4744	NEFH	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
4744	NEFH	HP:0003445	EMG: neuropathic changes	4/4	OMIM:616924
4744	NEFH	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
4744	NEFH	HP:0010535	Sleep apnea	-	OMIM:105400
4744	NEFH	HP:0003581	Adult onset	-	OMIM:105400
4744	NEFH	HP:0003555	Muscle fiber splitting	-	OMIM:616924
4744	NEFH	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:616924
4744	NEFH	HP:0007024	Pseudobulbar paralysis	-	OMIM:105400
4744	NEFH	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
4744	NEFH	HP:0002380	Fasciculations	-	OMIM:105400
4744	NEFH	HP:0002398	Degeneration of anterior horn cells	-	OMIM:105400
4744	NEFH	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
4744	NEFH	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
4744	NEFH	HP:0002359	Frequent falls	-	OMIM:616924
4744	NEFH	HP:0003676	Progressive	-	OMIM:616924
4744	NEFH	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
4744	NEFH	HP:0002314	Degeneration of the lateral corticospinal tracts	-	OMIM:105400
4744	NEFH	HP:0007141	Sensorimotor neuropathy	-	OMIM:616924
4744	NEFH	HP:0002307	Drooling	HP:0040282	ORPHA:803
4744	NEFH	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
4744	NEFH	HP:0004326	Cachexia	HP:0040283	ORPHA:803
4744	NEFH	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
4744	NEFH	HP:0000739	Anxiety	HP:0040282	ORPHA:803
4744	NEFH	HP:0000716	Depression	HP:0040282	ORPHA:803
4744	NEFH	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
4744	NEFH	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
4744	NEFH	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
4744	NEFH	HP:0009129	Upper limb amyotrophy	3/4	OMIM:616924
4744	NEFH	HP:0003198	Myopathy	-	OMIM:616924
4744	NEFH	HP:0003236	Elevated circulating creatine kinase concentration	3/4	OMIM:616924
4744	NEFH	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
4744	NEFH	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
4744	NEFH	HP:0003202	Skeletal muscle atrophy	-	OMIM:105400
4744	NEFH	HP:0003200	Ragged-red muscle fibers	-	OMIM:616924
4744	NEFH	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
4744	NEFH	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
4744	NEFH	HP:0012378	Fatigue	HP:0040282	ORPHA:803
4744	NEFH	HP:0002936	Distal sensory impairment	-	OMIM:616924
4744	NEFH	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
4744	NEFH	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
4744	NEFH	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
4744	NEFH	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
4744	NEFH	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
4744	NEFH	HP:0001761	Pes cavus	-	OMIM:616924
4744	NEFH	HP:0001824	Weight loss	HP:0040282	ORPHA:803
4744	NEFH	HP:0012531	Pain	HP:0040282	ORPHA:803
4747	NEFL	HP:0001178	Ulnar claw	-	OMIM:607684
4747	NEFL	HP:0001171	Split hand	-	OMIM:617882
4747	NEFL	HP:0001155	Abnormality of the hand	HP:0040282	ORPHA:101085
4747	NEFL	HP:0002495	Impaired vibratory sensation	HP:0040282	ORPHA:101085
4747	NEFL	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:99939
4747	NEFL	HP:0002460	Distal muscle weakness	HP:0040281	ORPHA:101085
4747	NEFL	HP:0002460	Distal muscle weakness	-	OMIM:607684
4747	NEFL	HP:0002460	Distal muscle weakness	9/9	OMIM:607734
4747	NEFL	HP:0002460	Distal muscle weakness	-	OMIM:617882
4747	NEFL	HP:0003798	Nemaline bodies	HP:0040283	OMIM:607684
4747	NEFL	HP:0007327	Mixed demyelinating and axonal polyneuropathy	HP:0040282	ORPHA:101085
4747	NEFL	HP:0007328	Impaired pain sensation	2/2	OMIM:607684
4747	NEFL	HP:0007328	Impaired pain sensation	HP:0040282	ORPHA:101085
4747	NEFL	HP:0010873	Cervical spinal cord atrophy	HP:0040282	ORPHA:101085
4747	NEFL	HP:0007230	Decreased distal sensory nerve action potential	1/2	OMIM:607684
4747	NEFL	HP:0007233	Clusters of axonal regeneration	-	OMIM:607734
4747	NEFL	HP:0007220	Demyelinating motor neuropathy	HP:0040281	ORPHA:99939
4747	NEFL	HP:0007220	Demyelinating motor neuropathy	HP:0040281	ORPHA:101085
4747	NEFL	HP:0007210	Lower limb amyotrophy	1/6	OMIM:617882
4747	NEFL	HP:0002403	Positive Romberg sign	HP:0040282	ORPHA:101085
4747	NEFL	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:99939
4747	NEFL	HP:0003701	Proximal muscle weakness	HP:0040284	OMIM:617882
4747	NEFL	HP:0001270	Motor delay	HP:0040282	ORPHA:101085
4747	NEFL	HP:0001270	Motor delay	HP:0040283	OMIM:607684
4747	NEFL	HP:0001270	Motor delay	-	OMIM:617882
4747	NEFL	HP:0001270	Motor delay	HP:0040283	ORPHA:99939
4747	NEFL	HP:0001270	Motor delay	-	OMIM:607734
4747	NEFL	HP:0001288	Gait disturbance	HP:0040281	ORPHA:99939
4747	NEFL	HP:0001288	Gait disturbance	2/2	OMIM:607684
4747	NEFL	HP:0001288	Gait disturbance	2/12	OMIM:617882
4747	NEFL	HP:0001284	Areflexia	HP:0040282	ORPHA:101085
4747	NEFL	HP:0001284	Areflexia	2/2	OMIM:607684
4747	NEFL	HP:0001284	Areflexia	4/9	OMIM:607734
4747	NEFL	HP:0001284	Areflexia	-	OMIM:617882
4747	NEFL	HP:0001252	Hypotonia	HP:0040283	ORPHA:101085
4747	NEFL	HP:0001251	Ataxia	HP:0040284	OMIM:617882
4747	NEFL	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:99939
4747	NEFL	HP:0001265	Hyporeflexia	1/2	OMIM:607684
4747	NEFL	HP:0001265	Hyporeflexia	4/9	OMIM:607734
4747	NEFL	HP:0001265	Hyporeflexia	4/6	OMIM:617882
4747	NEFL	HP:0001260	Dysarthria	HP:0040283	ORPHA:101085
4747	NEFL	HP:0001263	Global developmental delay	1/9	OMIM:607734
4747	NEFL	HP:0001257	Spasticity	HP:0040284	OMIM:617882
4747	NEFL	HP:0007340	Lower limb muscle weakness	HP:0040281	ORPHA:99939
4747	NEFL	HP:0007340	Lower limb muscle weakness	2/2	OMIM:607684
4747	NEFL	HP:0007340	Lower limb muscle weakness	2/6	OMIM:617882
4747	NEFL	HP:0002540	Inability to walk	HP:0040283	ORPHA:99939
4747	NEFL	HP:0002540	Inability to walk	HP:0040284	ORPHA:101085
4747	NEFL	HP:0002515	Waddling gait	-	OMIM:617882
4747	NEFL	HP:0002527	Falls	1/6	OMIM:617882
4747	NEFL	HP:0001371	Flexion contracture	-	OMIM:607684
4747	NEFL	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:101085
4747	NEFL	HP:0000007	Autosomal recessive inheritance	-	OMIM:607734
4747	NEFL	HP:0001337	Tremor	2/9	OMIM:607734
4747	NEFL	HP:0000006	Autosomal dominant inheritance	-	OMIM:607684
4747	NEFL	HP:0000006	Autosomal dominant inheritance	-	OMIM:617882
4747	NEFL	HP:0000006	Autosomal dominant inheritance	-	OMIM:607734
4747	NEFL	HP:0002650	Scoliosis	HP:0040283	ORPHA:101085
4747	NEFL	HP:0002650	Scoliosis	HP:0040283	OMIM:607684
4747	NEFL	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040283	ORPHA:101085
4747	NEFL	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040283	ORPHA:101085
4747	NEFL	HP:0008959	Distal upper limb muscle weakness	1/2	OMIM:607684
4747	NEFL	HP:0008956	Proximal lower limb amyotrophy	HP:0040283	ORPHA:101085
4747	NEFL	HP:0008944	Distal lower limb amyotrophy	HP:0040282	ORPHA:101085
4747	NEFL	HP:0002015	Dysphagia	1/9	OMIM:607734
4747	NEFL	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:101085
4747	NEFL	HP:0002066	Gait ataxia	HP:0040282	ORPHA:101085
4747	NEFL	HP:0003394	Muscle spasm	HP:0040283	ORPHA:101085
4747	NEFL	HP:0003391	Gowers sign	HP:0040284	OMIM:617882
4747	NEFL	HP:0002070	Limb ataxia	HP:0040282	ORPHA:101085
4747	NEFL	HP:0003376	Steppage gait	HP:0040283	ORPHA:99939
4747	NEFL	HP:0003376	Steppage gait	1/2	OMIM:607684
4747	NEFL	HP:0003376	Steppage gait	-	OMIM:617882
4747	NEFL	HP:0003376	Steppage gait	HP:0040282	ORPHA:101085
4747	NEFL	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	HP:0040282	ORPHA:101085
4747	NEFL	HP:0003383	Onion bulb formation	1/1	OMIM:607684
4747	NEFL	HP:0003383	Onion bulb formation	1/1	OMIM:607734
4747	NEFL	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:607734
4747	NEFL	HP:0003477	Peripheral axonal neuropathy	HP:0040281	ORPHA:99939
4747	NEFL	HP:0003474	Somatic sensory dysfunction	HP:0040282	ORPHA:99939
4747	NEFL	HP:0003474	Somatic sensory dysfunction	HP:0040281	ORPHA:101085
4747	NEFL	HP:0003487	Babinski sign	-	OMIM:617882
4747	NEFL	HP:0003484	Upper limb muscle weakness	HP:0040281	ORPHA:99939
4747	NEFL	HP:0003481	Segmental peripheral demyelination/remyelination	1/1	OMIM:607734
4747	NEFL	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:99939
4747	NEFL	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:607684
4747	NEFL	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:607734
4747	NEFL	HP:0003401	Paresthesia	HP:0040283	ORPHA:101085
4747	NEFL	HP:0003596	Middle age onset	1/4	OMIM:617882
4747	NEFL	HP:0003593	Infantile onset	1/9	OMIM:607734
4747	NEFL	HP:0200101	Decreased/absent ankle reflexes	HP:0040282	ORPHA:99939
4747	NEFL	HP:0010628	Facial palsy	HP:0040283	OMIM:607684
4747	NEFL	HP:0002380	Fasciculations	HP:0040283	ORPHA:101085
4747	NEFL	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:99939
4747	NEFL	HP:0003693	Distal amyotrophy	2/2	OMIM:607684
4747	NEFL	HP:0003693	Distal amyotrophy	8/8	OMIM:607734
4747	NEFL	HP:0003691	Scapular winging	HP:0040283	ORPHA:101085
4747	NEFL	HP:0002359	Frequent falls	1/2	OMIM:607684
4747	NEFL	HP:0002378	Hand tremor	HP:0040282	ORPHA:101085
4747	NEFL	HP:0002346	Head tremor	HP:0040282	ORPHA:101085
4747	NEFL	HP:0003677	Slowly progressive	-	OMIM:617882
4747	NEFL	HP:0002317	Unsteady gait	HP:0040282	ORPHA:101085
4747	NEFL	HP:0010831	Impaired proprioception	HP:0040282	ORPHA:101085
4747	NEFL	HP:0009830	Peripheral neuropathy	1/6	OMIM:617882
4747	NEFL	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:99939
4747	NEFL	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:101085
4747	NEFL	HP:0007141	Sensorimotor neuropathy	-	OMIM:617882
4747	NEFL	HP:0007149	Distal upper limb amyotrophy	HP:0040282	ORPHA:101085
4747	NEFL	HP:0003621	Juvenile onset	1/2	OMIM:607684
4747	NEFL	HP:0003621	Juvenile onset	1/4	OMIM:617882
4747	NEFL	HP:0003621	Juvenile onset	5/9	OMIM:607734
4747	NEFL	HP:0006886	Impaired distal vibration sensation	2/2	OMIM:607684
4747	NEFL	HP:0000639	Nystagmus	-	OMIM:617882
4747	NEFL	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:101085
4747	NEFL	HP:0009053	Distal lower limb muscle weakness	1/2	OMIM:607684
4747	NEFL	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:101085
4747	NEFL	HP:0009046	Difficulty running	HP:0040282	ORPHA:99939
4747	NEFL	HP:0009025	Increased connective tissue	HP:0040283	OMIM:607684
4747	NEFL	HP:0009027	Foot dorsiflexor weakness	-	OMIM:607684
4747	NEFL	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:101085
4747	NEFL	HP:0004336	Myelin outfoldings	1/1	OMIM:607734
4747	NEFL	HP:0011402	Demyelinating sensory neuropathy	HP:0040281	ORPHA:99939
4747	NEFL	HP:0011402	Demyelinating sensory neuropathy	HP:0040281	ORPHA:101085
4747	NEFL	HP:0000762	Decreased nerve conduction velocity	HP:0040284	ORPHA:99939
4747	NEFL	HP:0000762	Decreased nerve conduction velocity	HP:0040281	ORPHA:101085
4747	NEFL	HP:0012785	Flexion contracture of finger	HP:0040283	ORPHA:101085
4747	NEFL	HP:0011463	Childhood onset	1/2	OMIM:607684
4747	NEFL	HP:0011463	Childhood onset	1/6	OMIM:617882
4747	NEFL	HP:0011463	Childhood onset	3/9	OMIM:607734
4747	NEFL	HP:0011462	Young adult onset	2/4	OMIM:617882
4747	NEFL	HP:0009130	Hand muscle atrophy	1/2	OMIM:607684
4747	NEFL	HP:0009130	Hand muscle atrophy	HP:0040282	ORPHA:101085
4747	NEFL	HP:0004463	Absent brainstem auditory responses	HP:0040282	ORPHA:101085
4747	NEFL	HP:0012896	Abnormal motor evoked potentials	HP:0040282	ORPHA:99939
4747	NEFL	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:617882
4747	NEFL	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:101085
4747	NEFL	HP:0000218	High palate	HP:0040283	OMIM:607684
4747	NEFL	HP:0002936	Distal sensory impairment	2/2	OMIM:607684
4747	NEFL	HP:0002936	Distal sensory impairment	7/8	OMIM:607734
4747	NEFL	HP:0002936	Distal sensory impairment	-	OMIM:617882
4747	NEFL	HP:0000365	Hearing impairment	1/6	OMIM:617882
4747	NEFL	HP:0030319	Weakness of facial musculature	HP:0040283	ORPHA:101085
4747	NEFL	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:101085
4747	NEFL	HP:0000407	Sensorineural hearing impairment	HP:0040284	OMIM:617882
4747	NEFL	HP:0012473	Tongue atrophy	HP:0040283	ORPHA:101085
4747	NEFL	HP:0030237	Hand muscle weakness	HP:0040282	ORPHA:101085
4747	NEFL	HP:0030235	Extremely elevated creatine kinase	HP:0040282	ORPHA:99939
4747	NEFL	HP:0012452	Restless legs	HP:0040283	ORPHA:101085
4747	NEFL	HP:0001765	Hammertoe	1/2	OMIM:607684
4747	NEFL	HP:0001760	Abnormal foot morphology	HP:0040281	ORPHA:99939
4747	NEFL	HP:0001761	Pes cavus	HP:0040282	ORPHA:101085
4747	NEFL	HP:0001761	Pes cavus	HP:0040282	ORPHA:99939
4747	NEFL	HP:0001761	Pes cavus	1/2	OMIM:607684
4747	NEFL	HP:0001761	Pes cavus	9/9	OMIM:607734
4747	NEFL	HP:0001761	Pes cavus	3/6	OMIM:617882
4747	NEFL	HP:0000508	Ptosis	HP:0040283	OMIM:607684
4747	NEFL	HP:0001884	Talipes calcaneovalgus	HP:0040282	ORPHA:99939
4750	NEK1	HP:0001177	Preaxial hand polydactyly	-	OMIM:263520
4750	NEK1	HP:0001177	Preaxial hand polydactyly	HP:0040282	OMIM:252100
4750	NEK1	HP:0001156	Brachydactyly	-	OMIM:263520
4750	NEK1	HP:0001156	Brachydactyly	HP:0040282	OMIM:252100
4750	NEK1	HP:0002483	Bulbar signs	1/3	OMIM:617892
4750	NEK1	HP:0001162	Postaxial hand polydactyly	-	OMIM:263520
4750	NEK1	HP:0001162	Postaxial hand polydactyly	HP:0040282	OMIM:252100
4750	NEK1	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:2751
4750	NEK1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2751
4750	NEK1	HP:0001159	Syndactyly	HP:0040283	OMIM:252100
4750	NEK1	HP:0002463	Language impairment	HP:0040283	ORPHA:803
4750	NEK1	HP:0410170	Hippocampal atrophy	1/3	OMIM:617892
4750	NEK1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4750	NEK1	HP:0001293	Cranial nerve compression	-	OMIM:131300
4750	NEK1	HP:0001270	Motor delay	HP:0040284	OMIM:263520
4750	NEK1	HP:0001252	Hypotonia	2/7	OMIM:615777
4750	NEK1	HP:0001249	Intellectual disability	5/7	OMIM:615777
4750	NEK1	HP:0001260	Dysarthria	2/3	OMIM:617892
4750	NEK1	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
4750	NEK1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2751
4750	NEK1	HP:0001263	Global developmental delay	-	OMIM:615777
4750	NEK1	HP:0001257	Spasticity	1/3	OMIM:617892
4750	NEK1	HP:0001257	Spasticity	HP:0040282	ORPHA:803
4750	NEK1	HP:0002566	Intestinal malrotation	HP:0040283	OMIM:263520
4750	NEK1	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:2751
4750	NEK1	HP:0100874	Thick hair	HP:0040283	ORPHA:2751
4750	NEK1	HP:0006042	Y-shaped metacarpals	HP:0040282	ORPHA:2751
4750	NEK1	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
4750	NEK1	HP:0007354	Amyotrophic lateral sclerosis	3/3	OMIM:617892
4750	NEK1	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
4750	NEK1	HP:0010984	Digenic inheritance	-	OMIM:263520
4750	NEK1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
4750	NEK1	HP:0002515	Waddling gait	54/102	OMIM:131300
4750	NEK1	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
4750	NEK1	HP:0000062	Ambiguous genitalia	-	OMIM:263520
4750	NEK1	HP:0001395	Hepatic fibrosis	HP:0040283	OMIM:263520
4750	NEK1	HP:0000054	Micropenis	HP:0040283	OMIM:263520
4750	NEK1	HP:0001382	Joint hypermobility	-	OMIM:615777
4750	NEK1	HP:0000050	Hypoplastic male external genitalia	HP:0040284	ORPHA:2751
4750	NEK1	HP:0001347	Hyperreflexia	3/3	OMIM:617892
4750	NEK1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
4750	NEK1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4750	NEK1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4750	NEK1	HP:0006136	Bilateral postaxial polydactyly	-	OMIM:252100
4750	NEK1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4750	NEK1	HP:0001324	Muscle weakness	40/96	OMIM:131300
4750	NEK1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4750	NEK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:263520
4750	NEK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:252100
4750	NEK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4750	NEK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617892
4750	NEK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4750	NEK1	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
4750	NEK1	HP:0001302	Pachygyria	HP:0040283	OMIM:263520
4750	NEK1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	OMIM:263520
4750	NEK1	HP:0002650	Scoliosis	12/14	OMIM:131300
4750	NEK1	HP:0002650	Scoliosis	HP:0040283	OMIM:252100
4750	NEK1	HP:0002645	Wormian bones	HP:0040283	OMIM:252100
4750	NEK1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4750	NEK1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4750	NEK1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4750	NEK1	HP:0000180	Lobulated tongue	HP:0040282	OMIM:252100
4750	NEK1	HP:0000199	Tongue nodules	HP:0040282	ORPHA:2751
4750	NEK1	HP:0000199	Tongue nodules	HP:0040282	OMIM:252100
4750	NEK1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4750	NEK1	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:2751
4750	NEK1	HP:0000191	Accessory oral frenulum	HP:0040282	OMIM:252100
4750	NEK1	HP:0000161	Median cleft upper lip	-	OMIM:263520
4750	NEK1	HP:0000161	Median cleft upper lip	HP:0040282	OMIM:252100
4750	NEK1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:2751
4750	NEK1	HP:0000175	Cleft palate	-	OMIM:263520
4750	NEK1	HP:0000175	Cleft palate	HP:0040283	OMIM:252100
4750	NEK1	HP:0000175	Cleft palate	2/7	OMIM:615777
4750	NEK1	HP:0000175	Cleft palate	HP:0040281	ORPHA:2751
4750	NEK1	HP:0000171	Microglossia	HP:0040283	OMIM:263520
4750	NEK1	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
4750	NEK1	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:2751
4750	NEK1	HP:0410033	Unilateral alveolar cleft of maxilla	HP:0040283	ORPHA:2751
4750	NEK1	HP:0008947	Floppy infant	HP:0040283	ORPHA:2751
4750	NEK1	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
4750	NEK1	HP:0006289	Agenesis of central incisor	HP:0040282	ORPHA:2751
4750	NEK1	HP:0006289	Agenesis of central incisor	HP:0040283	OMIM:252100
4750	NEK1	HP:0000113	Polycystic kidney dysplasia	-	OMIM:263520
4750	NEK1	HP:0002789	Tachypnea	HP:0040283	ORPHA:2751
4750	NEK1	HP:0002015	Dysphagia	2/3	OMIM:617892
4750	NEK1	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
4750	NEK1	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
4750	NEK1	HP:0011819	Submucous cleft soft palate	HP:0040282	ORPHA:2751
4750	NEK1	HP:0011802	Hamartoma of tongue	-	OMIM:263520
4750	NEK1	HP:0011802	Hamartoma of tongue	HP:0040282	ORPHA:2751
4750	NEK1	HP:0002089	Pulmonary hypoplasia	-	OMIM:263520
4750	NEK1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
4750	NEK1	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
4750	NEK1	HP:0002093	Respiratory insufficiency	2/3	OMIM:617892
4750	NEK1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040284	ORPHA:2751
4750	NEK1	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
4750	NEK1	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
4750	NEK1	HP:0003388	Easy fatigability	36/76	OMIM:131300
4750	NEK1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4750	NEK1	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
4750	NEK1	HP:0003470	Paralysis	HP:0040282	ORPHA:803
4750	NEK1	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
4750	NEK1	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
4750	NEK1	HP:0002132	Porencephalic cyst	HP:0040283	OMIM:252100
4750	NEK1	HP:0002104	Apnea	HP:0040283	ORPHA:2751
4750	NEK1	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
4750	NEK1	HP:0003596	Middle age onset	2/3	OMIM:617892
4750	NEK1	HP:0002273	Tetraparesis	1/3	OMIM:617892
4750	NEK1	HP:0100702	Arachnoid cyst	HP:0040283	ORPHA:2751
4750	NEK1	HP:0003584	Late onset	1/3	OMIM:617892
4750	NEK1	HP:0100732	Pancreatic fibrosis	HP:0040283	OMIM:263520
4750	NEK1	HP:0003510	Severe short stature	7/7	OMIM:615777
4750	NEK1	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
4750	NEK1	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
4750	NEK1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
4750	NEK1	HP:0002340	Caudate atrophy	1/3	OMIM:617892
4750	NEK1	HP:0002315	Headache	-	OMIM:131300
4750	NEK1	HP:0004976	Knee dislocation	6/7	OMIM:615777
4750	NEK1	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
4750	NEK1	HP:0004987	Mesomelic leg shortening	HP:0040283	ORPHA:2751
4750	NEK1	HP:0009826	Limb undergrowth	HP:0040283	ORPHA:2751
4750	NEK1	HP:0009803	Short phalanx of finger	-	OMIM:615777
4750	NEK1	HP:0009776	Adactyly	HP:0040284	ORPHA:2751
4750	NEK1	HP:0009763	Limb pain	63/92	OMIM:131300
4750	NEK1	HP:0002307	Drooling	HP:0040282	ORPHA:803
4750	NEK1	HP:0003621	Juvenile onset	-	OMIM:131300
4750	NEK1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4750	NEK1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	OMIM:252100
4750	NEK1	HP:0010068	Broad first metatarsal	HP:0040282	ORPHA:2751
4750	NEK1	HP:0004279	Short palm	-	OMIM:252100
4750	NEK1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4750	NEK1	HP:6001056	Out-toeing	-	OMIM:131300
4750	NEK1	HP:0000651	Diplopia	-	OMIM:131300
4750	NEK1	HP:0001956	Truncal obesity	2/7	OMIM:615777
4750	NEK1	HP:0001903	Anemia	HP:0040283	OMIM:131300
4750	NEK1	HP:0010049	Short metacarpal	-	OMIM:615777
4750	NEK1	HP:0010055	Broad hallux	HP:0040282	ORPHA:2751
4750	NEK1	HP:0000679	Taurodontia	HP:0040283	ORPHA:2751
4750	NEK1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
4750	NEK1	HP:0000678	Dental crowding	-	OMIM:615777
4750	NEK1	HP:0000695	Natal tooth	HP:0040284	ORPHA:2751
4750	NEK1	HP:0000685	Hypoplasia of teeth	HP:0040282	ORPHA:2751
4750	NEK1	HP:0000670	Carious teeth	-	OMIM:131300
4750	NEK1	HP:0011304	Broad thumb	2/7	OMIM:615777
4750	NEK1	HP:0000668	Hypodontia	-	OMIM:615777
4750	NEK1	HP:0000664	Synophrys	-	OMIM:615777
4750	NEK1	HP:0004322	Short stature	HP:0040282	ORPHA:2751
4750	NEK1	HP:0004322	Short stature	HP:0040282	OMIM:252100
4750	NEK1	HP:0004326	Cachexia	HP:0040283	ORPHA:803
4750	NEK1	HP:0006956	Lateral ventricle dilatation	HP:0040283	OMIM:263520
4750	NEK1	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
4750	NEK1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2751
4750	NEK1	HP:0004396	Poor appetite	-	OMIM:131300
4750	NEK1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4750	NEK1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4750	NEK1	HP:0003015	Flared metaphysis	HP:0040282	OMIM:252100
4750	NEK1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4750	NEK1	HP:0003026	Short long bone	-	OMIM:263520
4750	NEK1	HP:0003026	Short long bone	7/7	OMIM:615777
4750	NEK1	HP:0003027	Mesomelia	-	OMIM:263520
4750	NEK1	HP:0003025	Metaphyseal irregularity	HP:0040282	OMIM:252100
4750	NEK1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4750	NEK1	HP:0000767	Pectus excavatum	HP:0040283	OMIM:252100
4750	NEK1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4750	NEK1	HP:0000768	Pectus carinatum	HP:0040284	OMIM:263520
4750	NEK1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4750	NEK1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4750	NEK1	HP:0000739	Anxiety	HP:0040282	ORPHA:803
4750	NEK1	HP:0000750	Delayed speech and language development	HP:0040284	OMIM:263520
4750	NEK1	HP:0000750	Delayed speech and language development	-	OMIM:615777
4750	NEK1	HP:0000716	Depression	HP:0040282	ORPHA:803
4750	NEK1	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
4750	NEK1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
4750	NEK1	HP:0011461	Fetal onset	7/7	OMIM:615777
4750	NEK1	HP:0010101	Partial duplication of the phalanges of the hallux	-	OMIM:252100
4750	NEK1	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
4750	NEK1	HP:0000774	Narrow chest	-	OMIM:263520
4750	NEK1	HP:0000774	Narrow chest	2/7	OMIM:615777
4750	NEK1	HP:0000773	Short ribs	-	OMIM:263520
4750	NEK1	HP:0010100	Complete duplication of hallux phalanx	HP:0040282	ORPHA:2751
4750	NEK1	HP:0005766	Disproportionate shortening of the tibia	-	OMIM:263520
4750	NEK1	HP:0005736	Short tibia	HP:0040283	ORPHA:2751
4750	NEK1	HP:0000926	Platyspondyly	HP:0040284	OMIM:263520
4750	NEK1	HP:0000926	Platyspondyly	1/7	OMIM:615777
4750	NEK1	HP:0003180	Flat acetabular roof	-	OMIM:615777
4750	NEK1	HP:0004482	Relative macrocephaly	-	OMIM:615777
4750	NEK1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4750	NEK1	HP:0000888	Horizontal ribs	-	OMIM:263520
4750	NEK1	HP:0000823	Delayed puberty	-	OMIM:131300
4750	NEK1	HP:0010297	Bifid tongue	HP:0040282	ORPHA:2751
4750	NEK1	HP:0010297	Bifid tongue	HP:0040282	OMIM:252100
4750	NEK1	HP:0040019	Finger clinodactyly	HP:0040282	ORPHA:2751
4750	NEK1	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	HP:0040283	ORPHA:2751
4750	NEK1	HP:0000895	Lateral clavicle hook	-	OMIM:263520
4750	NEK1	HP:0000894	Short clavicles	-	OMIM:615777
4750	NEK1	HP:0005873	Polysyndactyly of hallux	HP:0040283	ORPHA:2751
4750	NEK1	HP:0005873	Polysyndactyly of hallux	-	OMIM:263520
4750	NEK1	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
4750	NEK1	HP:0003202	Skeletal muscle atrophy	1/3	OMIM:617892
4750	NEK1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4750	NEK1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
4750	NEK1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4750	NEK1	HP:0005817	Postaxial polysyndactyly of foot	-	OMIM:263520
4750	NEK1	HP:0000286	Epicanthus	1/7	OMIM:615777
4750	NEK1	HP:0000280	Coarse facial features	2/7	OMIM:615777
4750	NEK1	HP:0000272	Malar flattening	HP:0040282	OMIM:252100
4750	NEK1	HP:0007768	Central retinal vessel vascular tortuosity	HP:0040283	ORPHA:2751
4750	NEK1	HP:0002827	Hip dislocation	3/7	OMIM:615777
4750	NEK1	HP:0000238	Hydrocephalus	HP:0040283	OMIM:252100
4750	NEK1	HP:0000252	Microcephaly	-	OMIM:615777
4750	NEK1	HP:0000248	Brachycephaly	HP:0040283	OMIM:263520
4750	NEK1	HP:0000220	Velopharyngeal insufficiency	HP:0040283	ORPHA:2751
4750	NEK1	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
4750	NEK1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
4750	NEK1	HP:0000218	High palate	HP:0040282	ORPHA:2751
4750	NEK1	HP:0000218	High palate	HP:0040283	OMIM:252100
4750	NEK1	HP:0002857	Genu valgum	-	OMIM:131300
4750	NEK1	HP:0001533	Slender build	-	OMIM:131300
4750	NEK1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4750	NEK1	HP:0011087	Talon cusp	HP:0040283	ORPHA:2751
4750	NEK1	HP:0007807	Optic nerve compression	-	OMIM:131300
4750	NEK1	HP:0012378	Fatigue	HP:0040282	ORPHA:803
4750	NEK1	HP:0012368	Flat face	7/7	OMIM:615777
4750	NEK1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4750	NEK1	HP:0001600	Abnormality of the larynx	-	OMIM:263520
4750	NEK1	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
4750	NEK1	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
4750	NEK1	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
4750	NEK1	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
4750	NEK1	HP:0005180	Tricuspid regurgitation	HP:0040284	OMIM:263520
4750	NEK1	HP:0000365	Hearing impairment	10/67	OMIM:131300
4750	NEK1	HP:0000343	Long philtrum	1/7	OMIM:615777
4750	NEK1	HP:0011001	Increased bone mineral density	-	OMIM:131300
4750	NEK1	HP:0000347	Micrognathia	HP:0040283	ORPHA:2751
4750	NEK1	HP:0000347	Micrognathia	HP:0040282	OMIM:252100
4750	NEK1	HP:0000316	Hypertelorism	-	OMIM:252100
4750	NEK1	HP:0000311	Round face	2/7	OMIM:615777
4750	NEK1	HP:0000327	Hypoplasia of the maxilla	HP:0040282	OMIM:252100
4750	NEK1	HP:0001629	Ventricular septal defect	HP:0040283	OMIM:263520
4750	NEK1	HP:0002970	Genu varum	-	OMIM:615777
4750	NEK1	HP:0001631	Atrial septal defect	HP:0040283	OMIM:263520
4750	NEK1	HP:0000303	Mandibular prognathia	-	OMIM:131300
4750	NEK1	HP:0006695	Atrioventricular canal defect	HP:0040283	ORPHA:2751
4750	NEK1	HP:0005349	Hypoplasia of the epiglottis	HP:0040283	ORPHA:2751
4750	NEK1	HP:0005349	Hypoplasia of the epiglottis	-	OMIM:263520
4750	NEK1	HP:0006644	Thoracic dysplasia	-	OMIM:263520
4750	NEK1	HP:0000405	Conductive hearing impairment	HP:0040282	OMIM:252100
4750	NEK1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:2751
4750	NEK1	HP:0005280	Depressed nasal bridge	HP:0040282	OMIM:252100
4750	NEK1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4750	NEK1	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
4750	NEK1	HP:0001789	Hydrops fetalis	-	OMIM:263520
4750	NEK1	HP:0000455	Broad nasal tip	HP:0040282	OMIM:252100
4750	NEK1	HP:0000456	Bifid nasal tip	HP:0040282	OMIM:252100
4750	NEK1	HP:0000470	Short neck	1/7	OMIM:615777
4750	NEK1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4750	NEK1	HP:0001763	Pes planus	1/7	OMIM:615777
4750	NEK1	HP:0000411	Protruding ear	HP:0040283	ORPHA:2751
4750	NEK1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:2751
4750	NEK1	HP:0001841	Preaxial foot polydactyly	HP:0040282	ORPHA:2751
4750	NEK1	HP:0001841	Preaxial foot polydactyly	HP:0040282	OMIM:252100
4750	NEK1	HP:0001840	Metatarsus adductus	-	OMIM:615777
4750	NEK1	HP:0000520	Proptosis	2/4	OMIM:131300
4750	NEK1	HP:0000520	Proptosis	7/7	OMIM:615777
4750	NEK1	HP:0001824	Weight loss	HP:0040282	ORPHA:803
4750	NEK1	HP:0000506	Telecanthus	HP:0040282	OMIM:252100
4750	NEK1	HP:0000506	Telecanthus	HP:0040283	ORPHA:2751
4750	NEK1	HP:0001830	Postaxial foot polydactyly	HP:0040282	OMIM:252100
4750	NEK1	HP:0000592	Blue sclerae	2/7	OMIM:615777
4750	NEK1	HP:0000556	Retinal dystrophy	HP:0040284	OMIM:263520
4750	NEK1	HP:0000540	Hypermetropia	-	OMIM:263520
4750	NEK1	HP:0012531	Pain	HP:0040282	ORPHA:803
4750	NEK1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4750	NEK1	HP:0012514	Lower limb pain	4/4	OMIM:131300
4751	NEK2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
4751	NEK2	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
4751	NEK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
4751	NEK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615565
4751	NEK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
4751	NEK2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
4751	NEK2	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
4751	NEK2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
4751	NEK2	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
4751	NEK2	HP:0003621	Juvenile onset	8/19	OMIM:180100
4751	NEK2	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
4751	NEK2	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
4751	NEK2	HP:0000618	Blindness	HP:0040281	ORPHA:791
4751	NEK2	HP:0000613	Photophobia	HP:0040281	ORPHA:791
4751	NEK2	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
4751	NEK2	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
4751	NEK2	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
4751	NEK2	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
4751	NEK2	HP:0000662	Nyctalopia	26/28	OMIM:180100
4751	NEK2	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
4751	NEK2	HP:0011463	Childhood onset	3/19	OMIM:180100
4751	NEK2	HP:0011462	Young adult onset	8/19	OMIM:180100
4751	NEK2	HP:0030786	Photopsia	HP:0040283	ORPHA:791
4751	NEK2	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
4751	NEK2	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
4751	NEK2	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
4751	NEK2	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
4751	NEK2	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
4751	NEK2	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
4751	NEK2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
4751	NEK2	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
4751	NEK2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
4751	NEK2	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
4751	NEK2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
4751	NEK2	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
4751	NEK2	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
4751	NEK2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
4751	NEK2	HP:0000510	Rod-cone dystrophy	1/1	OMIM:615565
4751	NEK2	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
4751	NEK2	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
4751	NEK2	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
4751	NEK2	HP:0000575	Scotoma	5/18	OMIM:180100
4751	NEK2	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
4751	NEK2	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
4751	NEK2	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
4751	NEK2	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
4751	NEK2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
4751	NEK2	HP:0000545	Myopia	-	OMIM:180100
4758	NEU1	HP:0009891	Underdeveloped supraorbital ridges	HP:0040283	ORPHA:93399
4758	NEU1	HP:0009891	Underdeveloped supraorbital ridges	HP:0040283	ORPHA:93400
4758	NEU1	HP:0010864	Intellectual disability, severe	HP:0040284	ORPHA:93399
4758	NEU1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4758	NEU1	HP:0001293	Cranial nerve compression	-	OMIM:131300
4758	NEU1	HP:0001290	Generalized hypotonia	-	OMIM:256550
4758	NEU1	HP:0001270	Motor delay	HP:0040283	ORPHA:93399
4758	NEU1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:812
4758	NEU1	HP:0001250	Seizure	HP:0040281	ORPHA:812
4758	NEU1	HP:0001250	Seizure	HP:0040282	ORPHA:93399
4758	NEU1	HP:0001250	Seizure	HP:0040283	ORPHA:93400
4758	NEU1	HP:0001250	Seizure	-	OMIM:256550
4758	NEU1	HP:0001252	Hypotonia	HP:0040282	ORPHA:812
4758	NEU1	HP:0001252	Hypotonia	HP:0040282	ORPHA:93400
4758	NEU1	HP:0001252	Hypotonia	-	OMIM:256550
4758	NEU1	HP:0001252	Hypotonia	2/7	OMIM:615777
4758	NEU1	HP:0001251	Ataxia	HP:0040281	ORPHA:812
4758	NEU1	HP:0001251	Ataxia	HP:0040283	ORPHA:93400
4758	NEU1	HP:0001251	Ataxia	HP:0040283	ORPHA:93399
4758	NEU1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:812
4758	NEU1	HP:0001249	Intellectual disability	-	OMIM:256550
4758	NEU1	HP:0001249	Intellectual disability	5/7	OMIM:615777
4758	NEU1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:93399
4758	NEU1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:93400
4758	NEU1	HP:0001263	Global developmental delay	-	OMIM:615777
4758	NEU1	HP:0001257	Spasticity	HP:0040283	ORPHA:93399
4758	NEU1	HP:0001257	Spasticity	HP:0040283	ORPHA:93400
4758	NEU1	HP:0002515	Waddling gait	54/102	OMIM:131300
4758	NEU1	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:93399
4758	NEU1	HP:0000093	Proteinuria	-	OMIM:256550
4758	NEU1	HP:0012061	Urinary excretion of sialylated oligosaccharides	HP:0040281	ORPHA:812
4758	NEU1	HP:0012061	Urinary excretion of sialylated oligosaccharides	-	OMIM:256550
4758	NEU1	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:93399
4758	NEU1	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:93400
4758	NEU1	HP:0001382	Joint hypermobility	-	OMIM:615777
4758	NEU1	HP:0000023	Inguinal hernia	-	OMIM:256550
4758	NEU1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:93399
4758	NEU1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:93400
4758	NEU1	HP:0001350	Slurred speech	-	OMIM:256550
4758	NEU1	HP:0001350	Slurred speech	HP:0040281	ORPHA:812
4758	NEU1	HP:0001347	Hyperreflexia	-	OMIM:256550
4758	NEU1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4758	NEU1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4758	NEU1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4758	NEU1	HP:0001324	Muscle weakness	-	OMIM:256550
4758	NEU1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:812
4758	NEU1	HP:0001324	Muscle weakness	40/96	OMIM:131300
4758	NEU1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4758	NEU1	HP:0000007	Autosomal recessive inheritance	-	OMIM:256550
4758	NEU1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4758	NEU1	HP:0001337	Tremor	HP:0040282	ORPHA:812
4758	NEU1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4758	NEU1	HP:0001336	Myoclonus	-	OMIM:256550
4758	NEU1	HP:0001336	Myoclonus	HP:0040283	ORPHA:93399
4758	NEU1	HP:0001336	Myoclonus	HP:0040281	ORPHA:812
4758	NEU1	HP:0001336	Myoclonus	HP:0040283	ORPHA:93400
4758	NEU1	HP:0001310	Dysmetria	-	OMIM:256550
4758	NEU1	HP:0001310	Dysmetria	HP:0040283	ORPHA:93399
4758	NEU1	HP:0001310	Dysmetria	HP:0040283	ORPHA:93400
4758	NEU1	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:812
4758	NEU1	HP:0002650	Scoliosis	HP:0040281	ORPHA:812
4758	NEU1	HP:0002650	Scoliosis	12/14	OMIM:131300
4758	NEU1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4758	NEU1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4758	NEU1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4758	NEU1	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:812
4758	NEU1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4758	NEU1	HP:0000175	Cleft palate	2/7	OMIM:615777
4758	NEU1	HP:0008947	Floppy infant	HP:0040282	ORPHA:93399
4758	NEU1	HP:6000911	Reduced tissue neuraminidase activity	1/1	OMIM:256550
4758	NEU1	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:93399
4758	NEU1	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:93400
4758	NEU1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:812
4758	NEU1	HP:0003355	Aminoaciduria	HP:0040281	ORPHA:812
4758	NEU1	HP:0002015	Dysphagia	HP:0040283	ORPHA:93399
4758	NEU1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:812
4758	NEU1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:93399
4758	NEU1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:812
4758	NEU1	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:93399
4758	NEU1	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:93399
4758	NEU1	HP:0003388	Easy fatigability	36/76	OMIM:131300
4758	NEU1	HP:0010442	Polydactyly	HP:0040284	ORPHA:93400
4758	NEU1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4758	NEU1	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:93399
4758	NEU1	HP:0003461	Increased urinary O-linked sialopeptides	HP:0040281	ORPHA:812
4758	NEU1	HP:0003461	Increased urinary O-linked sialopeptides	-	OMIM:256550
4758	NEU1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:812
4758	NEU1	HP:0002240	Hepatomegaly	-	OMIM:256550
4758	NEU1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:93399
4758	NEU1	HP:0002240	Hepatomegaly	HP:0040284	ORPHA:93400
4758	NEU1	HP:0010729	Cherry red spot of the macula	-	OMIM:256550
4758	NEU1	HP:0010729	Cherry red spot of the macula	HP:0040282	ORPHA:93399
4758	NEU1	HP:0010729	Cherry red spot of the macula	HP:0040281	ORPHA:812
4758	NEU1	HP:0010729	Cherry red spot of the macula	HP:0040282	ORPHA:93400
4758	NEU1	HP:0100790	Hernia	HP:0040282	ORPHA:812
4758	NEU1	HP:0010655	Epiphyseal stippling	-	OMIM:256550
4758	NEU1	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:93400
4758	NEU1	HP:0003510	Severe short stature	7/7	OMIM:615777
4758	NEU1	HP:0002376	Developmental regression	HP:0040283	ORPHA:93400
4758	NEU1	HP:0001009	Telangiectasia	HP:0040283	ORPHA:93400
4758	NEU1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:812
4758	NEU1	HP:0002315	Headache	-	OMIM:131300
4758	NEU1	HP:0004976	Knee dislocation	6/7	OMIM:615777
4758	NEU1	HP:0010808	Protruding tongue	HP:0040283	ORPHA:93399
4758	NEU1	HP:0010808	Protruding tongue	HP:0040284	ORPHA:93400
4758	NEU1	HP:0009803	Short phalanx of finger	-	OMIM:615777
4758	NEU1	HP:0009763	Limb pain	63/92	OMIM:131300
4758	NEU1	HP:0003621	Juvenile onset	-	OMIM:131300
4758	NEU1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4758	NEU1	HP:0030506	Yellow/white lesions of the retina	HP:0040283	ORPHA:93400
4758	NEU1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4758	NEU1	HP:0000639	Nystagmus	HP:0040281	ORPHA:812
4758	NEU1	HP:0000639	Nystagmus	HP:0040283	ORPHA:93400
4758	NEU1	HP:0000639	Nystagmus	-	OMIM:256550
4758	NEU1	HP:0000639	Nystagmus	HP:0040283	ORPHA:93399
4758	NEU1	HP:6001056	Out-toeing	-	OMIM:131300
4758	NEU1	HP:0000651	Diplopia	-	OMIM:131300
4758	NEU1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:93399
4758	NEU1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:93400
4758	NEU1	HP:0001956	Truncal obesity	2/7	OMIM:615777
4758	NEU1	HP:0001922	Vacuolated lymphocytes	-	OMIM:256550
4758	NEU1	HP:0001903	Anemia	HP:0040283	OMIM:131300
4758	NEU1	HP:0010049	Short metacarpal	-	OMIM:615777
4758	NEU1	HP:0000678	Dental crowding	-	OMIM:615777
4758	NEU1	HP:0000670	Carious teeth	-	OMIM:131300
4758	NEU1	HP:0011304	Broad thumb	2/7	OMIM:615777
4758	NEU1	HP:0000668	Hypodontia	-	OMIM:615777
4758	NEU1	HP:0000664	Synophrys	-	OMIM:615777
4758	NEU1	HP:0004322	Short stature	HP:0040281	ORPHA:812
4758	NEU1	HP:0004322	Short stature	-	OMIM:256550
4758	NEU1	HP:0004333	Bone-marrow foam cells	-	OMIM:256550
4758	NEU1	HP:0004396	Poor appetite	-	OMIM:131300
4758	NEU1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4758	NEU1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4758	NEU1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4758	NEU1	HP:0003026	Short long bone	7/7	OMIM:615777
4758	NEU1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4758	NEU1	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:812
4758	NEU1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4758	NEU1	HP:0000768	Pectus carinatum	HP:0040281	ORPHA:812
4758	NEU1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4758	NEU1	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:812
4758	NEU1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4758	NEU1	HP:0000750	Delayed speech and language development	-	OMIM:615777
4758	NEU1	HP:0011461	Fetal onset	7/7	OMIM:615777
4758	NEU1	HP:0000774	Narrow chest	2/7	OMIM:615777
4758	NEU1	HP:0003115	Abnormal EKG	HP:0040284	ORPHA:93400
4758	NEU1	HP:0000926	Platyspondyly	1/7	OMIM:615777
4758	NEU1	HP:0003180	Flat acetabular roof	-	OMIM:615777
4758	NEU1	HP:0004482	Relative macrocephaly	-	OMIM:615777
4758	NEU1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4758	NEU1	HP:0000823	Delayed puberty	-	OMIM:131300
4758	NEU1	HP:0000894	Short clavicles	-	OMIM:615777
4758	NEU1	HP:0004554	Generalized hypertrichosis	HP:0040283	ORPHA:93399
4758	NEU1	HP:0004554	Generalized hypertrichosis	HP:0040284	ORPHA:93400
4758	NEU1	HP:0003202	Skeletal muscle atrophy	-	OMIM:256550
4758	NEU1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:812
4758	NEU1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4758	NEU1	HP:0003271	Visceromegaly	HP:0040281	ORPHA:93399
4758	NEU1	HP:0010306	Short thorax	HP:0040281	ORPHA:812
4758	NEU1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4758	NEU1	HP:0000969	Edema	HP:0040282	ORPHA:93400
4758	NEU1	HP:0000967	Petechiae	HP:0040283	ORPHA:93400
4758	NEU1	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:812
4758	NEU1	HP:0000943	Dysostosis multiplex	-	OMIM:256550
4758	NEU1	HP:0000943	Dysostosis multiplex	HP:0040281	ORPHA:93399
4758	NEU1	HP:0000943	Dysostosis multiplex	HP:0040281	ORPHA:812
4758	NEU1	HP:0000943	Dysostosis multiplex	HP:0040282	ORPHA:93400
4758	NEU1	HP:0000286	Epicanthus	1/7	OMIM:615777
4758	NEU1	HP:0000282	Facial edema	-	OMIM:256550
4758	NEU1	HP:0000280	Coarse facial features	-	OMIM:256550
4758	NEU1	HP:0000280	Coarse facial features	HP:0040281	ORPHA:93399
4758	NEU1	HP:0000280	Coarse facial features	HP:0040281	ORPHA:812
4758	NEU1	HP:0000280	Coarse facial features	2/7	OMIM:615777
4758	NEU1	HP:0000280	Coarse facial features	HP:0040282	ORPHA:93400
4758	NEU1	HP:0000256	Macrocephaly	HP:0040284	ORPHA:93400
4758	NEU1	HP:0007750	Hypoplasia of the fovea	HP:0040283	ORPHA:93400
4758	NEU1	HP:0002827	Hip dislocation	3/7	OMIM:615777
4758	NEU1	HP:0002808	Kyphosis	HP:0040283	ORPHA:812
4758	NEU1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93400
4758	NEU1	HP:0000252	Microcephaly	-	OMIM:615777
4758	NEU1	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:93399
4758	NEU1	HP:0000212	Gingival overgrowth	HP:0040284	ORPHA:93400
4758	NEU1	HP:0002857	Genu valgum	-	OMIM:131300
4758	NEU1	HP:0001541	Ascites	-	OMIM:256550
4758	NEU1	HP:0001541	Ascites	HP:0040282	ORPHA:93400
4758	NEU1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:93399
4758	NEU1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:93400
4758	NEU1	HP:0001533	Slender build	-	OMIM:131300
4758	NEU1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4758	NEU1	HP:0007807	Optic nerve compression	-	OMIM:131300
4758	NEU1	HP:0012368	Flat face	7/7	OMIM:615777
4758	NEU1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4758	NEU1	HP:0001618	Dysphonia	HP:0040283	ORPHA:93399
4758	NEU1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:93400
4758	NEU1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:93399
4758	NEU1	HP:0000365	Hearing impairment	10/67	OMIM:131300
4758	NEU1	HP:0000369	Low-set ears	HP:0040282	ORPHA:93400
4758	NEU1	HP:0000369	Low-set ears	HP:0040283	ORPHA:93399
4758	NEU1	HP:0000343	Long philtrum	1/7	OMIM:615777
4758	NEU1	HP:0011001	Increased bone mineral density	-	OMIM:131300
4758	NEU1	HP:0000348	High forehead	HP:0040284	ORPHA:93400
4758	NEU1	HP:0000311	Round face	2/7	OMIM:615777
4758	NEU1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93399
4758	NEU1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93400
4758	NEU1	HP:0001640	Cardiomegaly	-	OMIM:256550
4758	NEU1	HP:0002970	Genu varum	-	OMIM:615777
4758	NEU1	HP:0001638	Cardiomyopathy	-	OMIM:256550
4758	NEU1	HP:0000303	Mandibular prognathia	-	OMIM:131300
4758	NEU1	HP:0007957	Corneal opacity	HP:0040283	ORPHA:93399
4758	NEU1	HP:0007957	Corneal opacity	HP:0040281	ORPHA:812
4758	NEU1	HP:0007957	Corneal opacity	HP:0040283	ORPHA:93400
4758	NEU1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:812
4758	NEU1	HP:0000407	Sensorineural hearing impairment	-	OMIM:256550
4758	NEU1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4758	NEU1	HP:0000486	Strabismus	HP:0040283	ORPHA:93400
4758	NEU1	HP:0000486	Strabismus	HP:0040283	ORPHA:93399
4758	NEU1	HP:0000488	Retinopathy	HP:0040281	ORPHA:812
4758	NEU1	HP:0001789	Hydrops fetalis	-	OMIM:256550
4758	NEU1	HP:0000470	Short neck	1/7	OMIM:615777
4758	NEU1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4758	NEU1	HP:0001763	Pes planus	1/7	OMIM:615777
4758	NEU1	HP:0001744	Splenomegaly	-	OMIM:256550
4758	NEU1	HP:0001744	Splenomegaly	HP:0040281	ORPHA:812
4758	NEU1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:812
4758	NEU1	HP:0011276	Vascular skin abnormality	HP:0040281	ORPHA:812
4758	NEU1	HP:0000518	Cataract	-	OMIM:256550
4758	NEU1	HP:0000518	Cataract	HP:0040282	ORPHA:93399
4758	NEU1	HP:0000518	Cataract	HP:0040283	ORPHA:812
4758	NEU1	HP:0000518	Cataract	HP:0040282	ORPHA:93400
4758	NEU1	HP:0000519	Developmental cataract	HP:0040283	ORPHA:93400
4758	NEU1	HP:0001840	Metatarsus adductus	-	OMIM:615777
4758	NEU1	HP:0000529	Progressive visual loss	-	OMIM:256550
4758	NEU1	HP:0000529	Progressive visual loss	HP:0040281	ORPHA:812
4758	NEU1	HP:0000520	Proptosis	2/4	OMIM:131300
4758	NEU1	HP:0000520	Proptosis	7/7	OMIM:615777
4758	NEU1	HP:0000505	Visual impairment	HP:0040281	ORPHA:812
4758	NEU1	HP:0000592	Blue sclerae	2/7	OMIM:615777
4758	NEU1	HP:0000572	Visual loss	HP:0040283	ORPHA:93399
4758	NEU1	HP:0000572	Visual loss	HP:0040283	ORPHA:93400
4758	NEU1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4758	NEU1	HP:0012514	Lower limb pain	4/4	OMIM:131300
4760	NEUROD1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
4760	NEUROD1	HP:0002594	Pancreatic hypoplasia	HP:0040284	ORPHA:552
4760	NEUROD1	HP:0000077	Abnormality of the kidney	HP:0040284	ORPHA:552
4760	NEUROD1	HP:0012028	Hepatocellular adenoma	HP:0040284	ORPHA:552
4760	NEUROD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
4760	NEUROD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:606394
4760	NEUROD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
4760	NEUROD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
4760	NEUROD1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
4760	NEUROD1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
4760	NEUROD1	HP:0000119	Abnormality of the genitourinary system	HP:0040284	ORPHA:552
4760	NEUROD1	HP:0000112	Nephropathy	HP:0040283	ORPHA:552
4760	NEUROD1	HP:0000107	Renal cyst	HP:0040284	ORPHA:552
4760	NEUROD1	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
4760	NEUROD1	HP:0008255	Transient neonatal diabetes mellitus	HP:0040283	ORPHA:552
4760	NEUROD1	HP:0003584	Late onset	-	OMIM:125853
4760	NEUROD1	HP:0003621	Juvenile onset	8/19	OMIM:180100
4760	NEUROD1	HP:0004924	Abnormal oral glucose tolerance	HP:0040282	ORPHA:552
4760	NEUROD1	HP:0004904	Maturity-onset diabetes of the young	-	OMIM:606394
4760	NEUROD1	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
4760	NEUROD1	HP:0001953	Diabetic ketoacidosis	-	ORPHA:552
4760	NEUROD1	HP:0001952	Glucose intolerance	HP:0040282	ORPHA:552
4760	NEUROD1	HP:0000662	Nyctalopia	26/28	OMIM:180100
4760	NEUROD1	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:552
4760	NEUROD1	HP:0003076	Glycosuria	HP:0040282	ORPHA:552
4760	NEUROD1	HP:0003074	Hyperglycemia	HP:0040282	ORPHA:552
4760	NEUROD1	HP:0011463	Childhood onset	3/19	OMIM:180100
4760	NEUROD1	HP:0011462	Young adult onset	8/19	OMIM:180100
4760	NEUROD1	HP:0030794	Abnormal circulating C-peptide concentration	HP:0040282	ORPHA:552
4760	NEUROD1	HP:0000855	Insulin resistance	-	OMIM:125853
4760	NEUROD1	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040283	ORPHA:552
4760	NEUROD1	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040283	ORPHA:552
4760	NEUROD1	HP:0040214	Abnormal circulating insulin concentration	HP:0040282	ORPHA:552
4760	NEUROD1	HP:0040217	Elevated hemoglobin A1c	HP:0040282	ORPHA:552
4760	NEUROD1	HP:0040216	Hypoinsulinemia	HP:0040282	ORPHA:552
4760	NEUROD1	HP:0000956	Acanthosis nigricans	-	ORPHA:552
4760	NEUROD1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
4760	NEUROD1	HP:0030057	Autoimmune antibody positivity	-	ORPHA:552
4760	NEUROD1	HP:0025502	Overweight	HP:0040283	ORPHA:552
4760	NEUROD1	HP:0001520	Large for gestational age	HP:0040283	ORPHA:552
4760	NEUROD1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:552
4760	NEUROD1	HP:0001513	Obesity	HP:0040284	ORPHA:552
4760	NEUROD1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
4760	NEUROD1	HP:0001738	Exocrine pancreatic insufficiency	HP:0040284	ORPHA:552
4760	NEUROD1	HP:0000488	Retinopathy	HP:0040283	ORPHA:552
4760	NEUROD1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
4760	NEUROD1	HP:0000575	Scotoma	5/18	OMIM:180100
4760	NEUROD1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
4760	NEUROD1	HP:0000545	Myopia	-	OMIM:180100
4761	NEUROD2	HP:0002487	Hyperkinetic movements	1/2	OMIM:618374
4761	NEUROD2	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:1934
4761	NEUROD2	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0002421	Poor head control	HP:0040282	ORPHA:1934
4761	NEUROD2	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0001254	Lethargy	HP:0040282	ORPHA:1934
4761	NEUROD2	HP:0001250	Seizure	HP:0040280	ORPHA:1934
4761	NEUROD2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1934
4761	NEUROD2	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0001263	Global developmental delay	2/2	OMIM:618374
4761	NEUROD2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1934
4761	NEUROD2	HP:0001257	Spasticity	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0002540	Inability to walk	1/2	OMIM:618374
4761	NEUROD2	HP:0002521	Hypsarrhythmia	2/2	OMIM:618374
4761	NEUROD2	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:1934
4761	NEUROD2	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0000070	Ureterocele	HP:0040284	ORPHA:1934
4761	NEUROD2	HP:0025336	Delayed ability to sit	2/2	OMIM:618374
4761	NEUROD2	HP:0000054	Micropenis	HP:0040284	ORPHA:1934
4761	NEUROD2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1934
4761	NEUROD2	HP:0001332	Dystonia	HP:0040284	ORPHA:1934
4761	NEUROD2	HP:0001337	Tremor	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618374
4761	NEUROD2	HP:0001336	Myoclonus	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0001302	Pachygyria	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0000175	Cleft palate	HP:0040284	ORPHA:1934
4761	NEUROD2	HP:0008947	Floppy infant	HP:0040282	ORPHA:1934
4761	NEUROD2	HP:0008936	Axial hypotonia	1/2	OMIM:618374
4761	NEUROD2	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:1934
4761	NEUROD2	HP:0002033	Poor suck	HP:0040282	ORPHA:1934
4761	NEUROD2	HP:0002015	Dysphagia	HP:0040282	ORPHA:1934
4761	NEUROD2	HP:0002015	Dysphagia	1/2	OMIM:618374
4761	NEUROD2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0002079	Hypoplasia of the corpus callosum	1/2	OMIM:618374
4761	NEUROD2	HP:0002059	Cerebral atrophy	2/2	OMIM:618374
4761	NEUROD2	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:1934
4761	NEUROD2	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0002188	Delayed CNS myelination	1/2	OMIM:618374
4761	NEUROD2	HP:0003593	Infantile onset	2/2	OMIM:618374
4761	NEUROD2	HP:0100704	Cerebral visual impairment	1/2	OMIM:618374
4761	NEUROD2	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1934
4761	NEUROD2	HP:0200134	Epileptic encephalopathy	-	OMIM:618374
4761	NEUROD2	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:1934
4761	NEUROD2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1934
4761	NEUROD2	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:1934
4761	NEUROD2	HP:0002376	Developmental regression	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1934
4761	NEUROD2	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0010819	Atonic seizure	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0031936	Delayed ability to walk	2/2	OMIM:618374
4761	NEUROD2	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0010174	Broad phalanx of the toes	HP:0040284	ORPHA:1934
4761	NEUROD2	HP:0000817	Reduced eye contact	1/2	OMIM:618374
4761	NEUROD2	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1934
4761	NEUROD2	HP:0030891	Periventricular white matter hyperintensities	1/2	OMIM:618374
4761	NEUROD2	HP:0009381	Short finger	HP:0040284	ORPHA:1934
4761	NEUROD2	HP:0000252	Microcephaly	HP:0040284	ORPHA:1934
4761	NEUROD2	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1934
4761	NEUROD2	HP:0001508	Failure to thrive	HP:0040284	ORPHA:1934
4761	NEUROD2	HP:0001500	Broad finger	HP:0040284	ORPHA:1934
4761	NEUROD2	HP:0000340	Sloping forehead	HP:0040284	ORPHA:1934
4761	NEUROD2	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:1934
4761	NEUROD2	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:1934
4761	NEUROD2	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:1934
4761	NEUROD2	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:1934
4761	NEUROD2	HP:0000483	Astigmatism	1/2	OMIM:618374
4761	NEUROD2	HP:0000486	Strabismus	HP:0040284	ORPHA:1934
4761	NEUROD2	HP:0012469	Infantile spasms	2/2	OMIM:618374
4761	NEUROD2	HP:0012469	Infantile spasms	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1934
4761	NEUROD2	HP:0012448	Delayed myelination	HP:0040283	ORPHA:1934
4761	NEUROD2	HP:0012554	Absent thumbnail	HP:0040284	ORPHA:1934
4761	NEUROD2	HP:0000565	Esotropia	1/2	OMIM:618374
4762	NEUROG1	HP:0002487	Hyperkinetic movements	1/1	OMIM:620469
4762	NEUROG1	HP:0008586	Hypoplasia of the cochlea	1/2	OMIM:620469
4762	NEUROG1	HP:0001288	Gait disturbance	2/2	OMIM:620469
4762	NEUROG1	HP:0001284	Areflexia	1/1	OMIM:620469
4762	NEUROG1	HP:0001252	Hypotonia	1/1	OMIM:620469
4762	NEUROG1	HP:0001263	Global developmental delay	1/1	OMIM:620469
4762	NEUROG1	HP:0002553	Highly arched eyebrow	3/3	OMIM:620469
4762	NEUROG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620469
4762	NEUROG1	HP:0000189	Narrow palate	1/1	OMIM:620469
4762	NEUROG1	HP:0003390	Sensory axonal neuropathy	1/1	OMIM:620469
4762	NEUROG1	HP:0100716	Self-injurious behavior	1/1	OMIM:620469
4762	NEUROG1	HP:0100785	Insomnia	1/1	OMIM:620469
4762	NEUROG1	HP:0011968	Feeding difficulties	1/1	OMIM:620469
4762	NEUROG1	HP:0003623	Neonatal onset	3/3	OMIM:620469
4762	NEUROG1	HP:0000637	Long palpebral fissure	3/3	OMIM:620469
4762	NEUROG1	HP:0011385	Absent internal auditory canal	1/2	OMIM:620469
4762	NEUROG1	HP:0012736	Profound global developmental delay	2/2	OMIM:620469
4762	NEUROG1	HP:0000729	Autistic behavior	2/2	OMIM:620469
4762	NEUROG1	HP:0011476	Profound sensorineural hearing impairment	1/1	OMIM:620469
4762	NEUROG1	HP:0034252	Absent corneal reflex	1/1	OMIM:620469
4762	NEUROG1	HP:0030890	Hyperintensity of cerebral white matter on MRI	1/2	OMIM:620469
4762	NEUROG1	HP:0000298	Mask-like facies	1/2	OMIM:620469
4762	NEUROG1	HP:0005216	Impaired mastication	1/2	OMIM:620469
4762	NEUROG1	HP:0032794	Myoclonic seizure	1/1	OMIM:620469
4762	NEUROG1	HP:0000324	Facial asymmetry	2/2	OMIM:620469
4762	NEUROG1	HP:0007957	Corneal opacity	1/2	OMIM:620469
4762	NEUROG1	HP:0005469	Flat occiput	2/2	OMIM:620469
4762	NEUROG1	HP:0000508	Ptosis	1/2	OMIM:620469
4763	NF1	HP:0001176	Large hands	HP:0040282	ORPHA:363700
4763	NF1	HP:0001176	Large hands	HP:0040283	ORPHA:97685
4763	NF1	HP:0025105	Nevus anemicus	HP:0040282	ORPHA:97685
4763	NF1	HP:0002463	Language impairment	HP:0040282	ORPHA:97685
4763	NF1	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:29072
4763	NF1	HP:0009928	Thick nasal alae	HP:0040283	ORPHA:139474
4763	NF1	HP:0032252	Granuloma	HP:0040284	ORPHA:363700
4763	NF1	HP:0007236	Recurrent subcortical infarcts	HP:0040283	ORPHA:97685
4763	NF1	HP:0002414	Spina bifida	151/357	OMIM:162200
4763	NF1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4763	NF1	HP:0002410	Aqueductal stenosis	-	OMIM:162200
4763	NF1	HP:0001297	Stroke	HP:0040283	ORPHA:97685
4763	NF1	HP:0025269	Panic attack	HP:0040283	ORPHA:29072
4763	NF1	HP:0001293	Cranial nerve compression	-	OMIM:131300
4763	NF1	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:29072
4763	NF1	HP:0100817	Renovascular hypertension	HP:0040283	ORPHA:97685
4763	NF1	HP:0001271	Polyneuropathy	HP:0040283	ORPHA:97685
4763	NF1	HP:0001256	Intellectual disability, mild	-	OMIM:162200
4763	NF1	HP:0001250	Seizure	HP:0040283	ORPHA:97685
4763	NF1	HP:0001250	Seizure	HP:0040283	ORPHA:139474
4763	NF1	HP:0001250	Seizure	HP:0040283	ORPHA:363700
4763	NF1	HP:0001250	Seizure	19/437	OMIM:162200
4763	NF1	HP:0001252	Hypotonia	HP:0040282	ORPHA:363700
4763	NF1	HP:0001252	Hypotonia	2/7	OMIM:615777
4763	NF1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:97685
4763	NF1	HP:0001249	Intellectual disability	4/22	OMIM:601321
4763	NF1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:139474
4763	NF1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:363700
4763	NF1	HP:0001249	Intellectual disability	5/7	OMIM:615777
4763	NF1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:97685
4763	NF1	HP:0001263	Global developmental delay	-	OMIM:601321
4763	NF1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:139474
4763	NF1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:363700
4763	NF1	HP:0001263	Global developmental delay	-	OMIM:615777
4763	NF1	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:29072
4763	NF1	HP:0007429	Few cafe-au-lait spots	48/56	OMIM:162200
4763	NF1	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:363700
4763	NF1	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:97685
4763	NF1	HP:0031023	Multiple mucosal neuromas	HP:0040283	ORPHA:97685
4763	NF1	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:97685
4763	NF1	HP:0007340	Lower limb muscle weakness	-	OMIM:162210
4763	NF1	HP:0008678	Renal hypoplasia/aplasia	HP:0040284	ORPHA:363700
4763	NF1	HP:0002521	Hypsarrhythmia	-	OMIM:162200
4763	NF1	HP:0002515	Waddling gait	54/102	OMIM:131300
4763	NF1	HP:0033680	Pilocytic astrocytoma	1/148	OMIM:162200
4763	NF1	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:29072
4763	NF1	HP:0000093	Proteinuria	HP:0040282	ORPHA:29072
4763	NF1	HP:0012062	Bone cyst	HP:0040282	ORPHA:363700
4763	NF1	HP:0012032	Lipoma	9/328	OMIM:162200
4763	NF1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:363700
4763	NF1	HP:0001382	Joint hypermobility	-	OMIM:615777
4763	NF1	HP:0000053	Macroorchidism	HP:0040283	ORPHA:139474
4763	NF1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4763	NF1	HP:0000028	Cryptorchidism	1/12	OMIM:601321
4763	NF1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:638
4763	NF1	HP:0007565	Multiple cafe-au-lait spots	22/22	OMIM:601321
4763	NF1	HP:0007565	Multiple cafe-au-lait spots	677/781	OMIM:162200
4763	NF1	HP:0007565	Multiple cafe-au-lait spots	3/3	OMIM:193520
4763	NF1	HP:0007565	Multiple cafe-au-lait spots	HP:0040281	ORPHA:638
4763	NF1	HP:0007565	Multiple cafe-au-lait spots	HP:0040281	ORPHA:97685
4763	NF1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4763	NF1	HP:0007524	Atypical neurofibromatosis	HP:0040283	ORPHA:97685
4763	NF1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:363700
4763	NF1	HP:0001328	Specific learning disability	21/30	OMIM:601321
4763	NF1	HP:0001328	Specific learning disability	186/300	OMIM:162200
4763	NF1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:97685
4763	NF1	HP:0001328	Specific learning disability	HP:0040281	ORPHA:638
4763	NF1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4763	NF1	HP:0001324	Muscle weakness	-	OMIM:601321
4763	NF1	HP:0001324	Muscle weakness	40/96	OMIM:131300
4763	NF1	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:29072
4763	NF1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4763	NF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4763	NF1	HP:0002668	Paraganglioma	HP:0040281	ORPHA:29072
4763	NF1	HP:0001337	Tremor	HP:0040283	ORPHA:29072
4763	NF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:601321
4763	NF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
4763	NF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:162210
4763	NF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
4763	NF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:162200
4763	NF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:193520
4763	NF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4763	NF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:607785
4763	NF1	HP:0002666	Pheochromocytoma	3/3	OMIM:162200
4763	NF1	HP:0002666	Pheochromocytoma	HP:0040284	ORPHA:97685
4763	NF1	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:29072
4763	NF1	HP:0002650	Scoliosis	HP:0040283	ORPHA:97685
4763	NF1	HP:0002650	Scoliosis	HP:0040282	ORPHA:363700
4763	NF1	HP:0002650	Scoliosis	9/22	OMIM:601321
4763	NF1	HP:0002650	Scoliosis	12/14	OMIM:131300
4763	NF1	HP:0002650	Scoliosis	56/365	OMIM:162200
4763	NF1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4763	NF1	HP:0002619	Varicose veins	-	OMIM:153400
4763	NF1	HP:0032458	Narrowing of medullary canal	HP:0040283	ORPHA:97685
4763	NF1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4763	NF1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4763	NF1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4763	NF1	HP:0000175	Cleft palate	5/39	OMIM:153400
4763	NF1	HP:0000175	Cleft palate	2/7	OMIM:615777
4763	NF1	HP:0002797	Osteolysis	HP:0040283	ORPHA:97685
4763	NF1	HP:0001480	Freckling	146/224	OMIM:162200
4763	NF1	HP:0001480	Freckling	0/3	OMIM:162210
4763	NF1	HP:0001480	Freckling	HP:0040281	ORPHA:97685
4763	NF1	HP:0031284	Flushing	HP:0040282	ORPHA:29072
4763	NF1	HP:0006297	Enamel hypoplasia	HP:0040282	ORPHA:139474
4763	NF1	HP:0000126	Hydronephrosis	HP:0040284	ORPHA:363700
4763	NF1	HP:0001442	Typified by somatic mosaicism	-	OMIM:607785
4763	NF1	HP:0002751	Kyphoscoliosis	HP:0040284	ORPHA:363700
4763	NF1	HP:0002018	Nausea	HP:0040282	ORPHA:29072
4763	NF1	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:29072
4763	NF1	HP:0002015	Dysphagia	HP:0040282	ORPHA:638
4763	NF1	HP:0003307	Hyperlordosis	HP:0040284	ORPHA:363700
4763	NF1	HP:0011803	Bifid nose	HP:0040283	ORPHA:139474
4763	NF1	HP:0011800	Midface retrusion	-	OMIM:601321
4763	NF1	HP:0002088	Abnormal lung morphology	HP:0040283	ORPHA:97685
4763	NF1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:97685
4763	NF1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:363700
4763	NF1	HP:0002076	Migraine	HP:0040282	ORPHA:97685
4763	NF1	HP:0002057	Prominent glabella	HP:0040283	ORPHA:363700
4763	NF1	HP:0003388	Easy fatigability	36/76	OMIM:131300
4763	NF1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4763	NF1	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:97685
4763	NF1	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:29072
4763	NF1	HP:0002162	Low posterior hairline	17/22	OMIM:601321
4763	NF1	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:29072
4763	NF1	HP:0009592	Astrocytoma	2/137	OMIM:162200
4763	NF1	HP:0003596	Middle age onset	1/3	OMIM:162210
4763	NF1	HP:0003593	Infantile onset	-	OMIM:162200
4763	NF1	HP:0003577	Congenital onset	3/3	OMIM:193520
4763	NF1	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:29072
4763	NF1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
4763	NF1	HP:0003528	Elevated circulating calcitonin concentration	HP:0040283	ORPHA:29072
4763	NF1	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:638
4763	NF1	HP:0009743	Distichiasis	42/42	OMIM:153400
4763	NF1	HP:0100775	Dural ectasia	HP:0040284	ORPHA:97685
4763	NF1	HP:0009733	Glioma	2/2	OMIM:162200
4763	NF1	HP:0009733	Glioma	HP:0040283	ORPHA:97685
4763	NF1	HP:0009732	Plexiform neurofibroma	1/22	OMIM:601321
4763	NF1	HP:0009732	Plexiform neurofibroma	139/554	OMIM:162200
4763	NF1	HP:0009732	Plexiform neurofibroma	1/5	OMIM:162210
4763	NF1	HP:0009732	Plexiform neurofibroma	HP:0040282	ORPHA:97685
4763	NF1	HP:0009735	Spinal neurofibroma	34/354	OMIM:162200
4763	NF1	HP:0009735	Spinal neurofibroma	8/8	OMIM:162210
4763	NF1	HP:0009735	Spinal neurofibroma	HP:0040283	ORPHA:363700
4763	NF1	HP:0009734	Optic nerve glioma	4/14	OMIM:601321
4763	NF1	HP:0009734	Optic nerve glioma	64/476	OMIM:162200
4763	NF1	HP:0009734	Optic nerve glioma	HP:0040283	ORPHA:363700
4763	NF1	HP:0009734	Optic nerve glioma	HP:0040283	ORPHA:97685
4763	NF1	HP:0009737	Lisch nodules	12/20	OMIM:601321
4763	NF1	HP:0009737	Lisch nodules	240/533	OMIM:162200
4763	NF1	HP:0009737	Lisch nodules	2/5	OMIM:162210
4763	NF1	HP:0009737	Lisch nodules	0/3	OMIM:193520
4763	NF1	HP:0009737	Lisch nodules	HP:0040282	ORPHA:363700
4763	NF1	HP:0009737	Lisch nodules	HP:0040282	ORPHA:97685
4763	NF1	HP:0009736	Tibial pseudarthrosis	10/300	OMIM:162200
4763	NF1	HP:0009711	Retinal capillary hemangioma	HP:0040283	ORPHA:29072
4763	NF1	HP:0100723	Gastrointestinal stroma tumor	HP:0040284	ORPHA:97685
4763	NF1	HP:0100749	Chest pain	HP:0040282	ORPHA:29072
4763	NF1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:363700
4763	NF1	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:29072
4763	NF1	HP:0430022	Abnormality of the sphenoid sinus	HP:0040283	ORPHA:363700
4763	NF1	HP:0430022	Abnormality of the sphenoid sinus	HP:0040283	ORPHA:97685
4763	NF1	HP:0003510	Severe short stature	7/7	OMIM:615777
4763	NF1	HP:0020073	Hypopigmented macule	-	OMIM:162200
4763	NF1	HP:0020035	Lower limb dysmetria	HP:0040284	ORPHA:363700
4763	NF1	HP:0002385	Paraparesis	2/5	OMIM:162210
4763	NF1	HP:0001067	Neurofibroma	9/22	OMIM:601321
4763	NF1	HP:0001067	Neurofibroma	297/457	OMIM:162200
4763	NF1	HP:0001067	Neurofibroma	1/5	OMIM:162210
4763	NF1	HP:0001067	Neurofibroma	-	OMIM:193520
4763	NF1	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:29072
4763	NF1	HP:0001034	Hypermelanotic macule	HP:0040283	ORPHA:97685
4763	NF1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:97685
4763	NF1	HP:0001028	Hemangioma	HP:0040284	ORPHA:363700
4763	NF1	HP:0001004	Lymphedema	-	OMIM:153400
4763	NF1	HP:0002354	Memory impairment	HP:0040282	ORPHA:97685
4763	NF1	HP:0002315	Headache	-	OMIM:131300
4763	NF1	HP:0002315	Headache	HP:0040284	ORPHA:363700
4763	NF1	HP:0002315	Headache	HP:0040282	ORPHA:97685
4763	NF1	HP:0004976	Knee dislocation	6/7	OMIM:615777
4763	NF1	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:29072
4763	NF1	HP:0100658	Cellulitis	2/6	OMIM:153400
4763	NF1	HP:0200034	Papule	HP:0040282	ORPHA:97685
4763	NF1	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:29072
4763	NF1	HP:0001072	Thickened skin	HP:0040282	ORPHA:97685
4763	NF1	HP:0009803	Short phalanx of finger	-	OMIM:615777
4763	NF1	HP:0010796	Brainstem glioma	HP:0040283	ORPHA:97685
4763	NF1	HP:0010795	Cerebellar glioma	2/163	OMIM:162200
4763	NF1	HP:0010795	Cerebellar glioma	HP:0040283	ORPHA:97685
4763	NF1	HP:0010794	Impaired visuospatial constructive cognition	HP:0040283	ORPHA:363700
4763	NF1	HP:0100697	Neurofibrosarcoma	-	OMIM:162200
4763	NF1	HP:0100697	Neurofibrosarcoma	HP:0040283	ORPHA:363700
4763	NF1	HP:0100697	Neurofibrosarcoma	HP:0040283	ORPHA:97685
4763	NF1	HP:0100698	Subcutaneous neurofibroma	HP:0040282	ORPHA:363700
4763	NF1	HP:0009763	Limb pain	63/92	OMIM:131300
4763	NF1	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:29072
4763	NF1	HP:0003621	Juvenile onset	-	OMIM:131300
4763	NF1	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:97685
4763	NF1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4763	NF1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
4763	NF1	HP:0006851	Symmetric spinal nerve root neurofibromas	-	OMIM:162210
4763	NF1	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:363700
4763	NF1	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:29072
4763	NF1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4763	NF1	HP:0001962	Palpitations	HP:0040282	ORPHA:29072
4763	NF1	HP:6001056	Out-toeing	-	OMIM:131300
4763	NF1	HP:0000651	Diplopia	-	OMIM:131300
4763	NF1	HP:0000618	Blindness	HP:0040283	ORPHA:97685
4763	NF1	HP:0000613	Photophobia	10/49	OMIM:153400
4763	NF1	HP:0000610	Abnormal choroid morphology	HP:0040283	ORPHA:97685
4763	NF1	HP:0001956	Truncal obesity	2/7	OMIM:615777
4763	NF1	HP:0001920	Renal artery stenosis	4/641	OMIM:162200
4763	NF1	HP:0001920	Renal artery stenosis	HP:0040283	ORPHA:97685
4763	NF1	HP:0000601	Hypotelorism	HP:0040283	ORPHA:363700
4763	NF1	HP:0001909	Leukemia	HP:0040284	ORPHA:97685
4763	NF1	HP:0001903	Anemia	HP:0040283	OMIM:131300
4763	NF1	HP:0010049	Short metacarpal	-	OMIM:615777
4763	NF1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
4763	NF1	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:139474
4763	NF1	HP:0009023	Abdominal wall muscle weakness	HP:0040281	ORPHA:638
4763	NF1	HP:0011343	Moderate global developmental delay	2/3	OMIM:193520
4763	NF1	HP:0000678	Dental crowding	-	OMIM:615777
4763	NF1	HP:0000656	Ectropion	2/43	OMIM:153400
4763	NF1	HP:0000653	Sparse eyelashes	HP:0040283	ORPHA:139474
4763	NF1	HP:0000670	Carious teeth	-	OMIM:131300
4763	NF1	HP:0011304	Broad thumb	2/7	OMIM:615777
4763	NF1	HP:0000668	Hypodontia	-	OMIM:615777
4763	NF1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:363700
4763	NF1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:97685
4763	NF1	HP:0000664	Synophrys	-	OMIM:615777
4763	NF1	HP:0004322	Short stature	HP:0040283	ORPHA:97685
4763	NF1	HP:0004322	Short stature	-	OMIM:193520
4763	NF1	HP:0004322	Short stature	10/22	OMIM:601321
4763	NF1	HP:0004322	Short stature	HP:0040281	ORPHA:638
4763	NF1	HP:0004322	Short stature	HP:0040282	ORPHA:139474
4763	NF1	HP:0004322	Short stature	HP:0040283	ORPHA:363700
4763	NF1	HP:0004322	Short stature	50/385	OMIM:162200
4763	NF1	HP:0003002	Breast carcinoma	1/148	OMIM:162200
4763	NF1	HP:0003002	Breast carcinoma	HP:0040284	ORPHA:97685
4763	NF1	HP:0003003	Colon cancer	1/148	OMIM:162200
4763	NF1	HP:0003001	Glomus jugular tumor	HP:0040284	ORPHA:97685
4763	NF1	HP:0030692	Brain neoplasm	HP:0040283	ORPHA:97685
4763	NF1	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:29072
4763	NF1	HP:0004396	Poor appetite	-	OMIM:131300
4763	NF1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4763	NF1	HP:6001124	Sphenoid wing dysplasia	-	OMIM:162200
4763	NF1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4763	NF1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4763	NF1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
4763	NF1	HP:0003010	Prolonged bleeding time	HP:0040282	ORPHA:638
4763	NF1	HP:0003006	Neuroblastoma	1/21	OMIM:601321
4763	NF1	HP:0003026	Short long bone	7/7	OMIM:615777
4763	NF1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4763	NF1	HP:0100008	Schwannoma	HP:0040284	ORPHA:363700
4763	NF1	HP:0100008	Schwannoma	HP:0040283	ORPHA:97685
4763	NF1	HP:0011407	Proportionate tall stature	HP:0040282	ORPHA:363700
4763	NF1	HP:0012733	Macule	HP:0040284	ORPHA:363700
4763	NF1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:363700
4763	NF1	HP:0000767	Pectus excavatum	4/8	OMIM:601321
4763	NF1	HP:0000767	Pectus excavatum	24/439	OMIM:162200
4763	NF1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4763	NF1	HP:0000768	Pectus carinatum	2/3	OMIM:193520
4763	NF1	HP:0000768	Pectus carinatum	13/274	OMIM:162200
4763	NF1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4763	NF1	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:638
4763	NF1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4763	NF1	HP:0000736	Short attention span	HP:0040281	ORPHA:97685
4763	NF1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:139474
4763	NF1	HP:0000750	Delayed speech and language development	-	OMIM:601321
4763	NF1	HP:0000750	Delayed speech and language development	-	OMIM:615777
4763	NF1	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:29072
4763	NF1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:97685
4763	NF1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:97685
4763	NF1	HP:0011463	Childhood onset	-	OMIM:162200
4763	NF1	HP:0011462	Young adult onset	2/3	OMIM:162210
4763	NF1	HP:0011461	Fetal onset	7/7	OMIM:615777
4763	NF1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:97685
4763	NF1	HP:0000774	Narrow chest	2/7	OMIM:615777
4763	NF1	HP:0000790	Hematuria	HP:0040283	ORPHA:29072
4763	NF1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:363700
4763	NF1	HP:0012760	Reduced social responsiveness	HP:0040281	ORPHA:97685
4763	NF1	HP:0004411	Deviated nasal septum	HP:0040283	ORPHA:139474
4763	NF1	HP:0000917	Superior pectus carinatum	-	OMIM:601321
4763	NF1	HP:0000915	Pectus excavatum of inferior sternum	-	OMIM:601321
4763	NF1	HP:0000925	Abnormality of the vertebral column	HP:0040283	ORPHA:97685
4763	NF1	HP:0000924	Abnormality of the skeletal system	HP:0040282	ORPHA:363700
4763	NF1	HP:0000926	Platyspondyly	1/7	OMIM:615777
4763	NF1	HP:0003180	Flat acetabular roof	-	OMIM:615777
4763	NF1	HP:0004482	Relative macrocephaly	-	OMIM:193520
4763	NF1	HP:0004482	Relative macrocephaly	-	OMIM:615777
4763	NF1	HP:0003165	Elevated circulating parathyroid hormone level	HP:0040283	ORPHA:97685
4763	NF1	HP:0004467	Preauricular pit	-	OMIM:187500
4763	NF1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4763	NF1	HP:0012804	Corneal ulceration	-	OMIM:153400
4763	NF1	HP:0000826	Precocious puberty	HP:0040284	ORPHA:97685
4763	NF1	HP:0000822	Hypertension	HP:0040282	ORPHA:97685
4763	NF1	HP:0000822	Hypertension	10/238	OMIM:162200
4763	NF1	HP:0000823	Delayed puberty	-	OMIM:131300
4763	NF1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:97685
4763	NF1	HP:0000894	Short clavicles	-	OMIM:615777
4763	NF1	HP:0004562	Beaking of vertebral bodies T12-L3	HP:0040282	ORPHA:97685
4763	NF1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4763	NF1	HP:0045075	Sparse eyebrow	HP:0040283	ORPHA:139474
4763	NF1	HP:0100252	Diaphyseal dysplasia	HP:0040284	ORPHA:97685
4763	NF1	HP:0000997	Axillary freckling	16/22	OMIM:601321
4763	NF1	HP:0000997	Axillary freckling	435/546	OMIM:162200
4763	NF1	HP:0000997	Axillary freckling	1/3	OMIM:193520
4763	NF1	HP:0000997	Axillary freckling	HP:0040282	ORPHA:363700
4763	NF1	HP:0010310	Chylothorax	1/6	OMIM:153400
4763	NF1	HP:0000980	Pallor	HP:0040283	ORPHA:29072
4763	NF1	HP:0000957	Cafe-au-lait spot	HP:0040281	ORPHA:363700
4763	NF1	HP:0000957	Cafe-au-lait spot	5/8	OMIM:162210
4763	NF1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4763	NF1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:97685
4763	NF1	HP:0000935	Thickened cortex of long bones	HP:0040283	ORPHA:97685
4763	NF1	HP:0000938	Osteopenia	HP:0040283	ORPHA:97685
4763	NF1	HP:0011675	Arrhythmia	-	OMIM:153400
4763	NF1	HP:0000286	Epicanthus	HP:0040283	ORPHA:363700
4763	NF1	HP:0000286	Epicanthus	2/3	OMIM:193520
4763	NF1	HP:0000286	Epicanthus	12/22	OMIM:601321
4763	NF1	HP:0000286	Epicanthus	1/7	OMIM:615777
4763	NF1	HP:0000280	Coarse facial features	HP:0040282	ORPHA:363700
4763	NF1	HP:0000280	Coarse facial features	2/7	OMIM:615777
4763	NF1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:363700
4763	NF1	HP:0000256	Macrocephaly	14/22	OMIM:601321
4763	NF1	HP:0000256	Macrocephaly	48/128	OMIM:162200
4763	NF1	HP:0000276	Long face	HP:0040283	ORPHA:363700
4763	NF1	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:638
4763	NF1	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:97685
4763	NF1	HP:0000272	Malar flattening	5/22	OMIM:601321
4763	NF1	HP:0000272	Malar flattening	HP:0040283	ORPHA:139474
4763	NF1	HP:0006479	Abnormal dental pulp morphology	HP:0040283	ORPHA:363700
4763	NF1	HP:0002827	Hip dislocation	3/7	OMIM:615777
4763	NF1	HP:0002808	Kyphosis	HP:0040283	ORPHA:97685
4763	NF1	HP:0002808	Kyphosis	2/5	OMIM:153400
4763	NF1	HP:0002808	Kyphosis	2/145	OMIM:162200
4763	NF1	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:363700
4763	NF1	HP:0000238	Hydrocephalus	-	OMIM:162200
4763	NF1	HP:0002897	Parathyroid adenoma	-	OMIM:162200
4763	NF1	HP:0000252	Microcephaly	HP:0040282	ORPHA:139474
4763	NF1	HP:0000252	Microcephaly	-	OMIM:615777
4763	NF1	HP:0012222	Arachnoid hemangiomatosis	HP:0040283	ORPHA:29072
4763	NF1	HP:0000246	Sinusitis	HP:0040284	ORPHA:363700
4763	NF1	HP:0012209	Juvenile myelomonocytic leukemia	-	OMIM:607785
4763	NF1	HP:0012210	Abnormal renal morphology	HP:0040283	ORPHA:363700
4763	NF1	HP:0001548	Overgrowth	-	OMIM:162200
4763	NF1	HP:0000218	High palate	HP:0040283	ORPHA:363700
4763	NF1	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:139474
4763	NF1	HP:0002858	Meningioma	-	OMIM:162200
4763	NF1	HP:0002859	Rhabdomyosarcoma	-	OMIM:162200
4763	NF1	HP:0002859	Rhabdomyosarcoma	HP:0040284	ORPHA:97685
4763	NF1	HP:0002857	Genu valgum	-	OMIM:131300
4763	NF1	HP:0002857	Genu valgum	HP:0040283	ORPHA:363700
4763	NF1	HP:0002857	Genu valgum	-	OMIM:162200
4763	NF1	HP:0002865	Medullary thyroid carcinoma	1/148	OMIM:162200
4763	NF1	HP:0001533	Slender build	-	OMIM:131300
4763	NF1	HP:0000204	Cleft upper lip	-	OMIM:153400
4763	NF1	HP:0002863	Myelodysplasia	HP:0040284	ORPHA:97685
4763	NF1	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:29072
4763	NF1	HP:0030052	Inguinal freckling	-	OMIM:601321
4763	NF1	HP:0030052	Inguinal freckling	69/130	OMIM:162200
4763	NF1	HP:0030052	Inguinal freckling	1/3	OMIM:193520
4763	NF1	HP:0030052	Inguinal freckling	HP:0040282	ORPHA:363700
4763	NF1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:97685
4763	NF1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4763	NF1	HP:0007807	Optic nerve compression	-	OMIM:131300
4763	NF1	HP:0012378	Fatigue	HP:0040282	ORPHA:29072
4763	NF1	HP:0011039	Abnormal helix morphology	HP:0040281	ORPHA:638
4763	NF1	HP:0012368	Flat face	7/7	OMIM:615777
4763	NF1	HP:0007850	Retinal vascular proliferation	HP:0040283	ORPHA:97685
4763	NF1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4763	NF1	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:29072
4763	NF1	HP:0001618	Dysphonia	HP:0040282	ORPHA:29072
4763	NF1	HP:0000365	Hearing impairment	10/67	OMIM:131300
4763	NF1	HP:0000358	Posteriorly rotated ears	3/3	OMIM:193520
4763	NF1	HP:0000358	Posteriorly rotated ears	22/22	OMIM:601321
4763	NF1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:638
4763	NF1	HP:0000369	Low-set ears	HP:0040284	ORPHA:97685
4763	NF1	HP:0000369	Low-set ears	3/3	OMIM:193520
4763	NF1	HP:0000369	Low-set ears	22/22	OMIM:601321
4763	NF1	HP:0000369	Low-set ears	2/15	OMIM:162200
4763	NF1	HP:0000341	Narrow forehead	HP:0040283	ORPHA:363700
4763	NF1	HP:0000343	Long philtrum	HP:0040283	ORPHA:363700
4763	NF1	HP:0000343	Long philtrum	1/7	OMIM:615777
4763	NF1	HP:0011001	Increased bone mineral density	-	OMIM:131300
4763	NF1	HP:0000337	Broad forehead	-	OMIM:187500
4763	NF1	HP:0000337	Broad forehead	HP:0040283	ORPHA:97685
4763	NF1	HP:0001684	Secundum atrial septal defect	-	OMIM:601321
4763	NF1	HP:0001680	Coarctation of aorta	1/118	OMIM:162200
4763	NF1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:97685
4763	NF1	HP:0000347	Micrognathia	2/5	OMIM:153400
4763	NF1	HP:0000347	Micrognathia	HP:0040283	ORPHA:363700
4763	NF1	HP:0002979	Bowing of the legs	HP:0040284	ORPHA:97685
4763	NF1	HP:0000316	Hypertelorism	HP:0040284	ORPHA:97685
4763	NF1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:363700
4763	NF1	HP:0000316	Hypertelorism	2/3	OMIM:193520
4763	NF1	HP:0000316	Hypertelorism	20/22	OMIM:601321
4763	NF1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:638
4763	NF1	HP:0000316	Hypertelorism	3/15	OMIM:162200
4763	NF1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
4763	NF1	HP:0000311	Round face	2/7	OMIM:615777
4763	NF1	HP:0001642	Pulmonic stenosis	4/22	OMIM:601321
4763	NF1	HP:0001642	Pulmonic stenosis	18/267	OMIM:162200
4763	NF1	HP:0001642	Pulmonic stenosis	HP:0040284	ORPHA:363700
4763	NF1	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:97685
4763	NF1	HP:0001642	Pulmonic stenosis	1/3	OMIM:193520
4763	NF1	HP:0001642	Pulmonic stenosis	HP:0040281	ORPHA:638
4763	NF1	HP:0002992	Abnormal tibia morphology	HP:0040284	ORPHA:363700
4763	NF1	HP:0001653	Mitral regurgitation	HP:0040284	ORPHA:363700
4763	NF1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:363700
4763	NF1	HP:0001655	Patent foramen ovale	HP:0040284	ORPHA:363700
4763	NF1	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:363700
4763	NF1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
4763	NF1	HP:0001629	Ventricular septal defect	2/223	OMIM:162200
4763	NF1	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:363700
4763	NF1	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:97685
4763	NF1	HP:0002970	Genu varum	-	OMIM:615777
4763	NF1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:363700
4763	NF1	HP:0001639	Hypertrophic cardiomyopathy	1/118	OMIM:162200
4763	NF1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:97685
4763	NF1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:638
4763	NF1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
4763	NF1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
4763	NF1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:29072
4763	NF1	HP:0002967	Cubitus valgus	7/22	OMIM:601321
4763	NF1	HP:0001631	Atrial septal defect	HP:0040284	ORPHA:363700
4763	NF1	HP:0001631	Atrial septal defect	3/267	OMIM:162200
4763	NF1	HP:0000303	Mandibular prognathia	-	OMIM:131300
4763	NF1	HP:0001634	Mitral valve prolapse	HP:0040284	ORPHA:363700
4763	NF1	HP:0006610	Wide intermamillary distance	HP:0040284	ORPHA:97685
4763	NF1	HP:0012492	Cerebral artery stenosis	HP:0040283	ORPHA:97685
4763	NF1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:29072
4763	NF1	HP:0001701	Pericarditis	1/118	OMIM:162200
4763	NF1	HP:0001718	Mitral stenosis	1/118	OMIM:162200
4763	NF1	HP:0005272	Prominent nasolabial fold	-	OMIM:601321
4763	NF1	HP:0005280	Depressed nasal bridge	-	OMIM:601321
4763	NF1	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:97685
4763	NF1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4763	NF1	HP:0000486	Strabismus	HP:0040283	ORPHA:97685
4763	NF1	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:363700
4763	NF1	HP:0012471	Thick vermilion border	9/22	OMIM:601321
4763	NF1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
4763	NF1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
4763	NF1	HP:0000494	Downslanted palpebral fissures	18/22	OMIM:601321
4763	NF1	HP:0000494	Downslanted palpebral fissures	HP:0040284	ORPHA:97685
4763	NF1	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:638
4763	NF1	HP:0000494	Downslanted palpebral fissures	4/15	OMIM:162200
4763	NF1	HP:0000490	Deeply set eye	HP:0040283	ORPHA:97685
4763	NF1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
4763	NF1	HP:0000475	Broad neck	HP:0040282	ORPHA:363700
4763	NF1	HP:0000470	Short neck	-	OMIM:601321
4763	NF1	HP:0000470	Short neck	1/7	OMIM:615777
4763	NF1	HP:0000465	Webbed neck	14/22	OMIM:601321
4763	NF1	HP:0000465	Webbed neck	1/15	OMIM:162200
4763	NF1	HP:0000465	Webbed neck	HP:0040284	ORPHA:97685
4763	NF1	HP:0000465	Webbed neck	6/43	OMIM:153400
4763	NF1	HP:0000465	Webbed neck	HP:0040281	ORPHA:638
4763	NF1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4763	NF1	HP:0001763	Pes planus	1/7	OMIM:615777
4763	NF1	HP:0000411	Protruding ear	HP:0040283	ORPHA:363700
4763	NF1	HP:0001761	Pes cavus	HP:0040283	ORPHA:363700
4763	NF1	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:29072
4763	NF1	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:29072
4763	NF1	HP:0006743	Embryonal rhabdomyosarcoma	3/148	OMIM:162200
4763	NF1	HP:0030426	Ossifying fibroma	HP:0040284	ORPHA:363700
4763	NF1	HP:3000062	Abnormal internal carotid artery morphology	HP:0040283	ORPHA:97685
4763	NF1	HP:0001840	Metatarsus adductus	-	OMIM:615777
4763	NF1	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:97685
4763	NF1	HP:0000526	Aniridia	HP:0040284	ORPHA:29072
4763	NF1	HP:0000520	Proptosis	2/4	OMIM:131300
4763	NF1	HP:0000520	Proptosis	-	OMIM:187500
4763	NF1	HP:0000520	Proptosis	7/7	OMIM:615777
4763	NF1	HP:0000520	Proptosis	HP:0040283	ORPHA:97685
4763	NF1	HP:0001824	Weight loss	HP:0040282	ORPHA:29072
4763	NF1	HP:0000509	Conjunctivitis	-	OMIM:153400
4763	NF1	HP:0000508	Ptosis	2/39	OMIM:153400
4763	NF1	HP:0000508	Ptosis	15/22	OMIM:601321
4763	NF1	HP:0000508	Ptosis	HP:0040281	ORPHA:638
4763	NF1	HP:0001833	Long foot	HP:0040282	ORPHA:363700
4763	NF1	HP:0001833	Long foot	HP:0040283	ORPHA:97685
4763	NF1	HP:0000501	Glaucoma	-	OMIM:162200
4763	NF1	HP:0000501	Glaucoma	HP:0040283	ORPHA:97685
4763	NF1	HP:0000592	Blue sclerae	2/7	OMIM:615777
4763	NF1	HP:0000568	Microphthalmia	1/6	OMIM:153400
4763	NF1	HP:0012531	Pain	HP:0040283	ORPHA:97685
4763	NF1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4763	NF1	HP:0012514	Lower limb pain	4/4	OMIM:131300
4771	NF2	HP:0100963	Hyperesthesia	HP:0040282	ORPHA:637
4771	NF2	HP:0001271	Polyneuropathy	HP:0040283	ORPHA:637
4771	NF2	HP:0001269	Hemiparesis	HP:0040283	ORPHA:2495
4771	NF2	HP:0001269	Hemiparesis	HP:0040283	ORPHA:637
4771	NF2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:2495
4771	NF2	HP:0001279	Syncope	HP:0040284	ORPHA:2495
4771	NF2	HP:0001250	Seizure	HP:0040283	ORPHA:637
4771	NF2	HP:0001250	Seizure	HP:0040282	ORPHA:2495
4771	NF2	HP:0001250	Seizure	10/120	OMIM:101000
4771	NF2	HP:0001250	Seizure	HP:0040284	ORPHA:93921
4771	NF2	HP:0001251	Ataxia	HP:0040283	ORPHA:2495
4771	NF2	HP:0001251	Ataxia	10/120	OMIM:101000
4771	NF2	HP:0001260	Dysarthria	HP:0040283	ORPHA:637
4771	NF2	HP:0001262	Excessive daytime somnolence	HP:0040284	ORPHA:2495
4771	NF2	HP:0410275	Lumbosacral hemangioma	HP:0040283	ORPHA:93921
4771	NF2	HP:0010997	Chromosomal breakage induced by ionizing radiation	HP:0040281	ORPHA:2495
4771	NF2	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:2495
4771	NF2	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:2495
4771	NF2	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:2495
4771	NF2	HP:0002512	Brain stem compression	HP:0040284	ORPHA:2495
4771	NF2	HP:0002512	Brain stem compression	HP:0040283	ORPHA:637
4771	NF2	HP:0003829	Typified by incomplete penetrance	-	OMIM:607174
4771	NF2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:2495
4771	NF2	HP:0012032	Lipoma	HP:0040283	ORPHA:93921
4771	NF2	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:2495
4771	NF2	HP:0031189	Wrist drop	HP:0040283	ORPHA:637
4771	NF2	HP:0002664	Neoplasm	HP:0040283	ORPHA:93921
4771	NF2	HP:0001324	Muscle weakness	HP:0040283	ORPHA:93921
4771	NF2	HP:0001342	Cerebral hemorrhage	HP:0040284	ORPHA:2495
4771	NF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:101000
4771	NF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:607174
4771	NF2	HP:0033748	Hypoesthesia	HP:0040284	ORPHA:93921
4771	NF2	HP:0002650	Scoliosis	HP:0040283	ORPHA:93921
4771	NF2	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:2495
4771	NF2	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:637
4771	NF2	HP:0000141	Amenorrhea	HP:0040282	ORPHA:2495
4771	NF2	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:637
4771	NF2	HP:0500089	Optic nerve sheath meningioma	15/294	OMIM:101000
4771	NF2	HP:0000131	Uterine leiomyoma	HP:0040283	ORPHA:93921
4771	NF2	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:2495
4771	NF2	HP:0002015	Dysphagia	HP:0040283	ORPHA:637
4771	NF2	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2495
4771	NF2	HP:0011752	Neoplasm of the posterior pituitary	HP:0040284	ORPHA:2495
4771	NF2	HP:0011750	Neoplasm of the anterior pituitary	HP:0040284	ORPHA:93921
4771	NF2	HP:0011750	Neoplasm of the anterior pituitary	HP:0040283	ORPHA:2495
4771	NF2	HP:0011730	Abnormal central sensory function	HP:0040283	ORPHA:2495
4771	NF2	HP:0008163	Decreased circulating cortisol level	HP:0040282	ORPHA:2495
4771	NF2	HP:0003474	Somatic sensory dysfunction	HP:0040283	ORPHA:637
4771	NF2	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:2495
4771	NF2	HP:0003418	Back pain	HP:0040284	ORPHA:2495
4771	NF2	HP:0002196	Myelopathy	HP:0040282	ORPHA:637
4771	NF2	HP:0002167	Abnormal speech pattern	HP:0040284	ORPHA:2495
4771	NF2	HP:0002172	Postural instability	HP:0040283	ORPHA:637
4771	NF2	HP:0009588	Vestibular schwannoma	62/63	OMIM:101000
4771	NF2	HP:0009589	Bilateral vestibular schwannoma	-	ORPHA:93921
4771	NF2	HP:0009589	Bilateral vestibular schwannoma	HP:0040282	ORPHA:637
4771	NF2	HP:0009589	Bilateral vestibular schwannoma	43/48	OMIM:101000
4771	NF2	HP:0008240	Secondary growth hormone deficiency	HP:0040282	ORPHA:2495
4771	NF2	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:2495
4771	NF2	HP:0008237	Hypothalamic hypothyroidism	HP:0040283	ORPHA:2495
4771	NF2	HP:0010534	Transient global amnesia	HP:0040284	ORPHA:2495
4771	NF2	HP:0008214	Decreased serum estradiol	HP:0040282	ORPHA:2495
4771	NF2	HP:0008202	Reduced circulating prolactin concentration	HP:0040283	ORPHA:2495
4771	NF2	HP:0003401	Paresthesia	HP:0040283	ORPHA:93921
4771	NF2	HP:0009590	Unilateral vestibular schwannoma	65/111	OMIM:101000
4771	NF2	HP:0009593	Peripheral schwannoma	HP:0040282	ORPHA:93921
4771	NF2	HP:0009593	Peripheral schwannoma	HP:0040282	ORPHA:637
4771	NF2	HP:0009593	Peripheral schwannoma	-	OMIM:101000
4771	NF2	HP:0009592	Astrocytoma	HP:0040284	ORPHA:637
4771	NF2	HP:0009592	Astrocytoma	1/63	OMIM:101000
4771	NF2	HP:0009594	Retinal hamartoma	HP:0040283	ORPHA:637
4771	NF2	HP:0009594	Retinal hamartoma	5/58	OMIM:101000
4771	NF2	HP:0003581	Adult onset	-	OMIM:607174
4771	NF2	HP:0009733	Glioma	HP:0040284	ORPHA:637
4771	NF2	HP:0009737	Lisch nodules	2/55	OMIM:101000
4771	NF2	HP:0010628	Facial palsy	HP:0040283	ORPHA:2495
4771	NF2	HP:0010628	Facial palsy	HP:0040283	ORPHA:637
4771	NF2	HP:0002380	Fasciculations	HP:0040284	ORPHA:93921
4771	NF2	HP:0002381	Aphasia	HP:0040284	ORPHA:637
4771	NF2	HP:0001067	Neurofibroma	HP:0040283	ORPHA:2495
4771	NF2	HP:0001067	Neurofibroma	27/100	OMIM:101000
4771	NF2	HP:0002354	Memory impairment	HP:0040283	ORPHA:2495
4771	NF2	HP:0002354	Memory impairment	HP:0040283	ORPHA:637
4771	NF2	HP:0002321	Vertigo	8/100	OMIM:101000
4771	NF2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:637
4771	NF2	HP:0002315	Headache	HP:0040282	ORPHA:2495
4771	NF2	HP:0002315	Headache	2/63	OMIM:101000
4771	NF2	HP:0100648	Neoplasm of the tongue	HP:0040284	ORPHA:2495
4771	NF2	HP:0100661	Trigeminal neuralgia	HP:0040283	ORPHA:2495
4771	NF2	HP:0010828	Hemifacial spasm	HP:0040284	ORPHA:2495
4771	NF2	HP:0009830	Peripheral neuropathy	3/100	OMIM:101000
4771	NF2	HP:0009831	Mononeuropathy	HP:0040283	ORPHA:637
4771	NF2	HP:0001085	Papilledema	HP:0040283	ORPHA:2495
4771	NF2	HP:0030521	Bitemporal hemianopia	HP:0040282	ORPHA:2495
4771	NF2	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:2495
4771	NF2	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:637
4771	NF2	HP:0030532	Visual acuity test abnormality	HP:0040283	ORPHA:2495
4771	NF2	HP:0000651	Diplopia	1/63	OMIM:101000
4771	NF2	HP:0000651	Diplopia	HP:0040283	ORPHA:637
4771	NF2	HP:0000646	Amblyopia	HP:0040283	ORPHA:637
4771	NF2	HP:0000618	Blindness	HP:0040284	ORPHA:2495
4771	NF2	HP:0000618	Blindness	HP:0040283	ORPHA:637
4771	NF2	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2495
4771	NF2	HP:0012691	Focal T2 hypointense thalamic lesion	HP:0040282	ORPHA:2495
4771	NF2	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:637
4771	NF2	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:2495
4771	NF2	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:2495
4771	NF2	HP:0000802	Impotence	HP:0040282	ORPHA:2495
4771	NF2	HP:0100010	Spinal meningioma	HP:0040283	ORPHA:2495
4771	NF2	HP:0100010	Spinal meningioma	HP:0040283	ORPHA:637
4771	NF2	HP:0100014	Epiretinal membrane	HP:0040283	ORPHA:637
4771	NF2	HP:0100014	Epiretinal membrane	1/63	OMIM:101000
4771	NF2	HP:0100008	Schwannoma	HP:0040280	ORPHA:93921
4771	NF2	HP:0100009	Intracranial meningioma	HP:0040281	ORPHA:2495
4771	NF2	HP:0100009	Intracranial meningioma	HP:0040282	ORPHA:637
4771	NF2	HP:0000751	Personality changes	1/63	OMIM:101000
4771	NF2	HP:0100019	Cortical cataract	HP:0040283	ORPHA:637
4771	NF2	HP:0100019	Cortical cataract	17/45	OMIM:101000
4771	NF2	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:637
4771	NF2	HP:0000712	Emotional lability	HP:0040284	ORPHA:2495
4771	NF2	HP:0030591	Abnormal kinetic perimetry test	HP:0040283	ORPHA:2495
4771	NF2	HP:0011462	Young adult onset	-	OMIM:101000
4771	NF2	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:2495
4771	NF2	HP:0030766	Ear pain	HP:0040284	ORPHA:2495
4771	NF2	HP:0004408	Abnormality of the sense of smell	HP:0040283	ORPHA:2495
4771	NF2	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:2495
4771	NF2	HP:0030878	Abnormality on pulmonary function testing	HP:0040284	ORPHA:2495
4771	NF2	HP:0045026	Abnormal mediastinum morphology	HP:0040284	ORPHA:2495
4771	NF2	HP:0000997	Axillary freckling	0/100	OMIM:101000
4771	NF2	HP:0010302	Spinal cord tumor	HP:0040282	ORPHA:93921
4771	NF2	HP:0010302	Spinal cord tumor	HP:0040282	ORPHA:637
4771	NF2	HP:0000957	Cafe-au-lait spot	158/355	OMIM:101000
4771	NF2	HP:0000953	Hyperpigmentation of the skin	HP:0040283	ORPHA:637
4771	NF2	HP:0040171	Decreased serum testosterone concentration	HP:0040282	ORPHA:2495
4771	NF2	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:2495
4771	NF2	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:637
4771	NF2	HP:0007715	Weak extraocular muscles	HP:0040283	ORPHA:2495
4771	NF2	HP:0012285	Abnormal hypothalamus physiology	HP:0040283	ORPHA:2495
4771	NF2	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:2495
4771	NF2	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:637
4771	NF2	HP:0007787	Posterior subcapsular cataract	30/48	OMIM:101000
4771	NF2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:637
4771	NF2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2495
4771	NF2	HP:0002888	Ependymoma	HP:0040283	ORPHA:637
4771	NF2	HP:0002888	Ependymoma	10/294	OMIM:101000
4771	NF2	HP:0002858	Meningioma	HP:0040284	ORPHA:93921
4771	NF2	HP:0002858	Meningioma	HP:0040282	ORPHA:637
4771	NF2	HP:0002858	Meningioma	-	OMIM:607174
4771	NF2	HP:0002858	Meningioma	179/415	OMIM:101000
4771	NF2	HP:0030052	Inguinal freckling	0/100	OMIM:101000
4771	NF2	HP:0001513	Obesity	HP:0040283	ORPHA:2495
4771	NF2	HP:0006520	Progressive pulmonary function impairment	HP:0040284	ORPHA:2495
4771	NF2	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:2495
4771	NF2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:93921
4771	NF2	HP:0000365	Hearing impairment	68/183	OMIM:101000
4771	NF2	HP:0000360	Tinnitus	HP:0040284	ORPHA:2495
4771	NF2	HP:0000360	Tinnitus	HP:0040283	ORPHA:93921
4771	NF2	HP:0000360	Tinnitus	HP:0040283	ORPHA:637
4771	NF2	HP:0000360	Tinnitus	19/183	OMIM:101000
4771	NF2	HP:0001621	Weak voice	HP:0040284	ORPHA:93921
4771	NF2	HP:0007935	Juvenile posterior subcapsular lenticular opacities	36/45	OMIM:101000
4771	NF2	HP:0007924	Slow decrease in visual acuity	HP:0040283	ORPHA:2495
4771	NF2	HP:0007968	Remnants of the hyaloid vascular system	HP:0040284	ORPHA:637
4771	NF2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:637
4771	NF2	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:637
4771	NF2	HP:0011133	Increased sensitivity to ionizing radiation	HP:0040281	ORPHA:2495
4771	NF2	HP:0030430	Neuroma	HP:0040281	ORPHA:637
4771	NF2	HP:0012505	Enlarged pituitary gland	HP:0040283	ORPHA:2495
4771	NF2	HP:0000518	Cataract	HP:0040283	ORPHA:93921
4771	NF2	HP:0000518	Cataract	81/148	OMIM:101000
4771	NF2	HP:0000520	Proptosis	HP:0040284	ORPHA:2495
4771	NF2	HP:0030344	Decreased circulating luteinizing hormone level	HP:0040282	ORPHA:2495
4771	NF2	HP:0030341	Decreased circulating follicle stimulating hormone concentration	HP:0040282	ORPHA:2495
4771	NF2	HP:0000587	Abnormal optic nerve morphology	HP:0040283	ORPHA:637
4771	NF2	HP:0000572	Visual loss	7/63	OMIM:101000
4771	NF2	HP:0000572	Visual loss	HP:0040283	ORPHA:637
4771	NF2	HP:0012531	Pain	HP:0040282	ORPHA:93921
4773	NFATC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620232
4773	NFATC2	HP:0012191	B-cell lymphoma	1/1	OMIM:620232
4773	NFATC2	HP:0008940	Generalized lymphadenopathy	1/1	OMIM:620232
4773	NFATC2	HP:0008445	Cervical spinal canal stenosis	1/1	OMIM:620232
4773	NFATC2	HP:0004349	Reduced bone mineral density	1/1	OMIM:620232
4773	NFATC2	HP:0011463	Childhood onset	1/1	OMIM:620232
4773	NFATC2	HP:0003273	Hip contracture	1/1	OMIM:620232
4773	NFATC2	HP:0006466	Ankle flexion contracture	1/1	OMIM:620232
4773	NFATC2	HP:0030080	Burkitt lymphoma	1/1	OMIM:620232
4773	NFATC2	HP:0006380	Knee flexion contracture	1/1	OMIM:620232
4773	NFATC2	HP:0002953	Vertebral compression fracture	1/1	OMIM:620232
4773	NFATC2	HP:0030431	Osteochondroma	1/1	OMIM:620232
4774	NFIA	HP:0010862	Delayed fine motor development	1/1	OMIM:613735
4774	NFIA	HP:0003745	Sporadic	-	OMIM:613735
4774	NFIA	HP:0001274	Agenesis of corpus callosum	-	OMIM:613735
4774	NFIA	HP:0001250	Seizure	0/1	OMIM:613735
4774	NFIA	HP:0001250	Seizure	HP:0040282	ORPHA:401986
4774	NFIA	HP:0001252	Hypotonia	1/1	OMIM:613735
4774	NFIA	HP:0001252	Hypotonia	HP:0040282	ORPHA:401986
4774	NFIA	HP:0001249	Intellectual disability	-	OMIM:613735
4774	NFIA	HP:0001249	Intellectual disability	HP:0040282	ORPHA:401986
4774	NFIA	HP:0001263	Global developmental delay	1/1	OMIM:613735
4774	NFIA	HP:0001263	Global developmental delay	HP:0040281	ORPHA:401986
4774	NFIA	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040281	ORPHA:401986
4774	NFIA	HP:0000089	Renal hypoplasia	-	OMIM:613735
4774	NFIA	HP:0000076	Vesicoureteral reflux	HP:0040282	OMIM:613735
4774	NFIA	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:401986
4774	NFIA	HP:0000023	Inguinal hernia	-	OMIM:613735
4774	NFIA	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:401986
4774	NFIA	HP:0000006	Autosomal dominant inheritance	-	OMIM:613735
4774	NFIA	HP:0000160	Narrow mouth	-	OMIM:613735
4774	NFIA	HP:0000126	Hydronephrosis	1/1	OMIM:613735
4774	NFIA	HP:0002007	Frontal bossing	HP:0040282	ORPHA:401986
4774	NFIA	HP:0100543	Cognitive impairment	-	OMIM:613735
4774	NFIA	HP:0003396	Syringomyelia	-	OMIM:613735
4774	NFIA	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:613735
4774	NFIA	HP:0002144	Tethered cord	HP:0040282	ORPHA:401986
4774	NFIA	HP:0002119	Ventriculomegaly	1/1	OMIM:613735
4774	NFIA	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:401986
4774	NFIA	HP:0002194	Delayed gross motor development	1/1	OMIM:613735
4774	NFIA	HP:0011834	Moyamoya phenomenon	HP:0040284	ORPHA:401986
4774	NFIA	HP:0003593	Infantile onset	1/1	OMIM:613735
4774	NFIA	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:401986
4774	NFIA	HP:0007099	Chiari type I malformation	0/1	OMIM:613735
4774	NFIA	HP:0007099	Chiari type I malformation	HP:0040282	ORPHA:401986
4774	NFIA	HP:0011330	Metopic synostosis	1/1	OMIM:613735
4774	NFIA	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:401986
4774	NFIA	HP:0030746	Intraventricular hemorrhage	HP:0040282	ORPHA:401986
4774	NFIA	HP:0003196	Short nose	-	OMIM:613735
4774	NFIA	HP:0000965	Cutis marmorata	1/1	OMIM:613735
4774	NFIA	HP:0000965	Cutis marmorata	HP:0040283	ORPHA:401986
4774	NFIA	HP:0000283	Broad face	-	OMIM:613735
4774	NFIA	HP:0000256	Macrocephaly	1/1	OMIM:613735
4774	NFIA	HP:0000256	Macrocephaly	HP:0040282	ORPHA:401986
4774	NFIA	HP:0000219	Thin upper lip vermilion	-	OMIM:613735
4774	NFIA	HP:0001508	Failure to thrive	1/1	OMIM:613735
4774	NFIA	HP:0000396	Overfolded helix	1/1	OMIM:613735
4774	NFIA	HP:0000369	Low-set ears	-	OMIM:613735
4774	NFIA	HP:0000337	Broad forehead	-	OMIM:613735
4774	NFIA	HP:0000331	Short chin	-	OMIM:613735
4774	NFIA	HP:0007906	Ocular hypertension	HP:0040283	ORPHA:401986
4774	NFIA	HP:0000463	Anteverted nares	1/1	OMIM:613735
4774	NFIA	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:613735
4780	NFE2L2	HP:0500152	Hypocystinemia	2/4	OMIM:617744
4780	NFE2L2	HP:0020222	Hypohomocysteinemia	3/4	OMIM:617744
4780	NFE2L2	HP:0001256	Intellectual disability, mild	-	OMIM:617744
4780	NFE2L2	HP:0001324	Muscle weakness	2/4	OMIM:617744
4780	NFE2L2	HP:0001337	Tremor	1/4	OMIM:617744
4780	NFE2L2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617744
4780	NFE2L2	HP:0002783	Recurrent lower respiratory tract infections	4/4	OMIM:617744
4780	NFE2L2	HP:0012101	Decreased serum creatinine	4/4	OMIM:617744
4780	NFE2L2	HP:0002750	Delayed skeletal maturation	2/3	OMIM:617744
4780	NFE2L2	HP:0002720	Decreased circulating IgA concentration	1/4	OMIM:617744
4780	NFE2L2	HP:0002721	Immunodeficiency	-	OMIM:617744
4780	NFE2L2	HP:0003388	Easy fatigability	1/4	OMIM:617744
4780	NFE2L2	HP:0003593	Infantile onset	-	OMIM:617744
4780	NFE2L2	HP:0011968	Feeding difficulties	1/4	OMIM:617744
4780	NFE2L2	HP:0002352	Leukoencephalopathy	-	OMIM:617744
4780	NFE2L2	HP:0002315	Headache	2/3	OMIM:617744
4780	NFE2L2	HP:0011342	Mild global developmental delay	4/4	OMIM:617744
4780	NFE2L2	HP:0004322	Short stature	2/3	OMIM:617744
4780	NFE2L2	HP:0004313	Decreased circulating immunoglobulin concentration	1/4	OMIM:617744
4780	NFE2L2	HP:0000750	Delayed speech and language development	1/4	OMIM:617744
4780	NFE2L2	HP:0001581	Recurrent skin infections	3/4	OMIM:617744
4780	NFE2L2	HP:0001508	Failure to thrive	3/4	OMIM:617744
4780	NFE2L2	HP:0001511	Intrauterine growth retardation	1/4	OMIM:617744
4780	NFE2L2	HP:0001510	Growth delay	1/4	OMIM:617744
4780	NFE2L2	HP:0001609	Hoarse voice	1/4	OMIM:617744
4780	NFE2L2	HP:0001647	Bicuspid aortic valve	1/4	OMIM:617744
4780	NFE2L2	HP:0001631	Atrial septal defect	2/4	OMIM:617744
4781	NFIB	HP:0001274	Agenesis of corpus callosum	3/11	OMIM:618286
4781	NFIB	HP:0001270	Motor delay	11/16	OMIM:618286
4781	NFIB	HP:0001250	Seizure	0/18	OMIM:618286
4781	NFIB	HP:0001252	Hypotonia	11/17	OMIM:618286
4781	NFIB	HP:0001249	Intellectual disability	18/18	OMIM:618286
4781	NFIB	HP:0033725	Thin corpus callosum	2/11	OMIM:618286
4781	NFIB	HP:0000006	Autosomal dominant inheritance	-	OMIM:618286
4781	NFIB	HP:0002119	Ventriculomegaly	2/11	OMIM:618286
4781	NFIB	HP:0100710	Impulsivity	1/15	OMIM:618286
4781	NFIB	HP:0007018	Attention deficit hyperactivity disorder	11/15	OMIM:618286
4781	NFIB	HP:0034054	Probst bundles	1/15	OMIM:618286
4781	NFIB	HP:0012741	Unilateral cryptorchidism	2/15	OMIM:618286
4781	NFIB	HP:0000739	Anxiety	3/15	OMIM:618286
4781	NFIB	HP:0000750	Delayed speech and language development	18/18	OMIM:618286
4781	NFIB	HP:0000718	Aggressive behavior	1/15	OMIM:618286
4781	NFIB	HP:0000717	Autism	4/15	OMIM:618286
4781	NFIB	HP:0045075	Sparse eyebrow	4/17	OMIM:618286
4781	NFIB	HP:0000256	Macrocephaly	13/16	OMIM:618286
4781	NFIB	HP:0000276	Long face	-	OMIM:618286
4781	NFIB	HP:0000343	Long philtrum	-	OMIM:618286
4781	NFIB	HP:0000348	High forehead	-	OMIM:618286
4781	NFIB	HP:0000494	Downslanted palpebral fissures	-	OMIM:618286
4781	NFIB	HP:0000463	Anteverted nares	2/18	OMIM:618286
4781	NFIB	HP:0000446	Narrow nasal bridge	-	OMIM:618286
4781	NFIB	HP:0000581	Blepharophimosis	-	OMIM:618286
4784	NFIX	HP:0003778	Short mandibular rami	-	OMIM:602535
4784	NFIX	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:447980
4784	NFIX	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:420179
4784	NFIX	HP:0009882	Short distal phalanx of finger	-	OMIM:602535
4784	NFIX	HP:0008551	Microtia	HP:0040283	ORPHA:447980
4784	NFIX	HP:0003745	Sporadic	-	OMIM:602535
4784	NFIX	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4784	NFIX	HP:0001293	Cranial nerve compression	-	OMIM:131300
4784	NFIX	HP:0100807	Long fingers	HP:0040282	ORPHA:447980
4784	NFIX	HP:0100807	Long fingers	2/3	OMIM:614753
4784	NFIX	HP:0001276	Hypertonia	4/15	OMIM:602535
4784	NFIX	HP:0001274	Agenesis of corpus callosum	-	OMIM:602535
4784	NFIX	HP:0001270	Motor delay	-	OMIM:602535
4784	NFIX	HP:0001270	Motor delay	HP:0040282	ORPHA:447980
4784	NFIX	HP:0001270	Motor delay	3/5	OMIM:614753
4784	NFIX	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:420179
4784	NFIX	HP:0001250	Seizure	HP:0040283	ORPHA:420179
4784	NFIX	HP:0001252	Hypotonia	4/5	OMIM:614753
4784	NFIX	HP:0001252	Hypotonia	-	OMIM:602535
4784	NFIX	HP:0001252	Hypotonia	2/7	OMIM:615777
4784	NFIX	HP:0001249	Intellectual disability	5/5	OMIM:614753
4784	NFIX	HP:0001249	Intellectual disability	16/16	OMIM:602535
4784	NFIX	HP:0001249	Intellectual disability	HP:0040281	ORPHA:561
4784	NFIX	HP:0001249	Intellectual disability	5/7	OMIM:615777
4784	NFIX	HP:0001263	Global developmental delay	HP:0040281	ORPHA:447980
4784	NFIX	HP:0001263	Global developmental delay	29/29	OMIM:602535
4784	NFIX	HP:0001263	Global developmental delay	-	OMIM:615777
4784	NFIX	HP:0002572	Episodic vomiting	HP:0040283	ORPHA:447980
4784	NFIX	HP:0001238	Slender finger	1/2	OMIM:602535
4784	NFIX	HP:0006048	Distal widening of metacarpals	-	OMIM:602535
4784	NFIX	HP:0008689	Bilateral cryptorchidism	1/2	OMIM:602535
4784	NFIX	HP:0001212	Prominent fingertip pads	8/14	OMIM:602535
4784	NFIX	HP:0002553	Highly arched eyebrow	1/2	OMIM:602535
4784	NFIX	HP:0002515	Waddling gait	54/102	OMIM:131300
4784	NFIX	HP:0003819	Death in childhood	-	OMIM:602535
4784	NFIX	HP:0000098	Tall stature	-	OMIM:602535
4784	NFIX	HP:0000098	Tall stature	HP:0040282	ORPHA:420179
4784	NFIX	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:447980
4784	NFIX	HP:0001385	Hip dysplasia	1/2	OMIM:602535
4784	NFIX	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:561
4784	NFIX	HP:0001382	Joint hypermobility	-	OMIM:615777
4784	NFIX	HP:0001348	Brisk reflexes	5/15	OMIM:602535
4784	NFIX	HP:0001363	Craniosynostosis	1/19	OMIM:602535
4784	NFIX	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:561
4784	NFIX	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4784	NFIX	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:420179
4784	NFIX	HP:0000028	Cryptorchidism	3/8	OMIM:602535
4784	NFIX	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4784	NFIX	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:420179
4784	NFIX	HP:0001331	Absent septum pellucidum	1/2	OMIM:602535
4784	NFIX	HP:0002659	Increased susceptibility to fractures	HP:0040282	ORPHA:561
4784	NFIX	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4784	NFIX	HP:0001324	Muscle weakness	40/96	OMIM:131300
4784	NFIX	HP:0001344	Absent speech	HP:0040282	ORPHA:447980
4784	NFIX	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4784	NFIX	HP:0002673	Coxa valga	2/5	OMIM:614753
4784	NFIX	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4784	NFIX	HP:0000006	Autosomal dominant inheritance	-	OMIM:614753
4784	NFIX	HP:0000006	Autosomal dominant inheritance	-	OMIM:602535
4784	NFIX	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4784	NFIX	HP:0001302	Pachygyria	12/33	OMIM:602535
4784	NFIX	HP:0002650	Scoliosis	4/9	OMIM:602535
4784	NFIX	HP:0002650	Scoliosis	HP:0040282	ORPHA:561
4784	NFIX	HP:0002650	Scoliosis	3/5	OMIM:614753
4784	NFIX	HP:0002650	Scoliosis	12/14	OMIM:131300
4784	NFIX	HP:0002650	Scoliosis	HP:0040283	ORPHA:420179
4784	NFIX	HP:0001321	Cerebellar hypoplasia	1/10	OMIM:602535
4784	NFIX	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:561
4784	NFIX	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:420179
4784	NFIX	HP:0002645	Wormian bones	1/2	OMIM:602535
4784	NFIX	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4784	NFIX	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4784	NFIX	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4784	NFIX	HP:0000194	Open mouth	HP:0040282	ORPHA:561
4784	NFIX	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4784	NFIX	HP:0000160	Narrow mouth	HP:0040282	ORPHA:447980
4784	NFIX	HP:0000160	Narrow mouth	HP:0040283	ORPHA:420179
4784	NFIX	HP:0000160	Narrow mouth	2/4	OMIM:614753
4784	NFIX	HP:0000162	Glossoptosis	-	OMIM:602535
4784	NFIX	HP:0000175	Cleft palate	HP:0040283	ORPHA:447980
4784	NFIX	HP:0000175	Cleft palate	2/7	OMIM:615777
4784	NFIX	HP:0008936	Axial hypotonia	1/2	OMIM:602535
4784	NFIX	HP:0006288	Advanced eruption of teeth	1/3	OMIM:614753
4784	NFIX	HP:0002788	Recurrent upper respiratory tract infections	1/2	OMIM:602535
4784	NFIX	HP:0002757	Recurrent fractures	4/19	OMIM:602535
4784	NFIX	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:447980
4784	NFIX	HP:0002751	Kyphoscoliosis	10/19	OMIM:602535
4784	NFIX	HP:0002021	Pyloric stenosis	2/19	OMIM:602535
4784	NFIX	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:447980
4784	NFIX	HP:0002019	Constipation	HP:0040283	ORPHA:447980
4784	NFIX	HP:0002007	Frontal bossing	1/2	OMIM:602535
4784	NFIX	HP:0002007	Frontal bossing	HP:0040283	ORPHA:420179
4784	NFIX	HP:0003311	Hypoplasia of the odontoid process	-	OMIM:602535
4784	NFIX	HP:0011800	Midface retrusion	19/21	OMIM:602535
4784	NFIX	HP:0011800	Midface retrusion	1/2	OMIM:614753
4784	NFIX	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:447980
4784	NFIX	HP:0002092	Pulmonary arterial hypertension	1/17	OMIM:602535
4784	NFIX	HP:0002079	Hypoplasia of the corpus callosum	2/10	OMIM:602535
4784	NFIX	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:420179
4784	NFIX	HP:0002079	Hypoplasia of the corpus callosum	1/3	OMIM:614753
4784	NFIX	HP:0002076	Migraine	HP:0040283	ORPHA:420179
4784	NFIX	HP:0002059	Cerebral atrophy	2/10	OMIM:602535
4784	NFIX	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:447980
4784	NFIX	HP:0003388	Easy fatigability	36/76	OMIM:131300
4784	NFIX	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4784	NFIX	HP:0002119	Ventriculomegaly	4/25	OMIM:602535
4784	NFIX	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:561
4784	NFIX	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:420179
4784	NFIX	HP:0002119	Ventriculomegaly	2/3	OMIM:614753
4784	NFIX	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:420179
4784	NFIX	HP:0002100	Recurrent aspiration pneumonia	1/2	OMIM:602535
4784	NFIX	HP:0002104	Apnea	-	OMIM:602535
4784	NFIX	HP:0003414	Atlantoaxial dislocation	1/2	OMIM:602535
4784	NFIX	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:420179
4784	NFIX	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:447980
4784	NFIX	HP:0002230	Generalized hirsutism	HP:0040282	ORPHA:561
4784	NFIX	HP:0002299	Brittle hair	1/2	OMIM:602535
4784	NFIX	HP:0011968	Feeding difficulties	1/2	OMIM:602535
4784	NFIX	HP:0011951	Aspiration pneumonia	1/2	OMIM:602535
4784	NFIX	HP:0430029	Hyperplasia of the premaxilla	0/1	OMIM:614753
4784	NFIX	HP:0003510	Severe short stature	7/7	OMIM:615777
4784	NFIX	HP:0002365	Hypoplasia of the brainstem	HP:0040283	ORPHA:420179
4784	NFIX	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:447980
4784	NFIX	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:447980
4784	NFIX	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:420179
4784	NFIX	HP:0002342	Intellectual disability, moderate	1/1	OMIM:602535
4784	NFIX	HP:0002341	Cervical cord compression	2/19	OMIM:602535
4784	NFIX	HP:0002315	Headache	-	OMIM:131300
4784	NFIX	HP:0004976	Knee dislocation	6/7	OMIM:615777
4784	NFIX	HP:0009845	Bullet-shaped middle phalanges of the hand	-	OMIM:602535
4784	NFIX	HP:0008513	Bilateral conductive hearing impairment	1/2	OMIM:602535
4784	NFIX	HP:0010808	Protruding tongue	HP:0040282	ORPHA:561
4784	NFIX	HP:0009803	Short phalanx of finger	-	OMIM:615777
4784	NFIX	HP:0009797	Cholesteatoma	1/2	OMIM:602535
4784	NFIX	HP:0010759	Prominence of the premaxilla	28/28	OMIM:602535
4784	NFIX	HP:0009763	Limb pain	63/92	OMIM:131300
4784	NFIX	HP:0003623	Neonatal onset	2/2	OMIM:602535
4784	NFIX	HP:0003623	Neonatal onset	1/2	OMIM:614753
4784	NFIX	HP:0002307	Drooling	1/2	OMIM:602535
4784	NFIX	HP:0003621	Juvenile onset	-	OMIM:131300
4784	NFIX	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4784	NFIX	HP:0004209	Clinodactyly of the 5th finger	1/2	OMIM:602535
4784	NFIX	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4784	NFIX	HP:0000639	Nystagmus	1/5	OMIM:614753
4784	NFIX	HP:0000639	Nystagmus	HP:0040283	ORPHA:420179
4784	NFIX	HP:6001056	Out-toeing	-	OMIM:131300
4784	NFIX	HP:0000651	Diplopia	-	OMIM:131300
4784	NFIX	HP:0000646	Amblyopia	HP:0040283	ORPHA:447980
4784	NFIX	HP:0000648	Optic atrophy	HP:0040283	ORPHA:561
4784	NFIX	HP:0001956	Truncal obesity	2/7	OMIM:615777
4784	NFIX	HP:0000609	Optic nerve hypoplasia	5/16	OMIM:602535
4784	NFIX	HP:0001903	Anemia	HP:0040283	OMIM:131300
4784	NFIX	HP:0010049	Short metacarpal	-	OMIM:615777
4784	NFIX	HP:0000678	Dental crowding	-	OMIM:615777
4784	NFIX	HP:0000691	Microdontia	1/2	OMIM:602535
4784	NFIX	HP:0000670	Carious teeth	-	OMIM:131300
4784	NFIX	HP:0011304	Broad thumb	2/7	OMIM:615777
4784	NFIX	HP:0000668	Hypodontia	-	OMIM:615777
4784	NFIX	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:447980
4784	NFIX	HP:0000664	Synophrys	-	OMIM:602535
4784	NFIX	HP:0000664	Synophrys	-	OMIM:615777
4784	NFIX	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:447980
4784	NFIX	HP:0004325	Decreased body weight	2/2	OMIM:602535
4784	NFIX	HP:0004322	Short stature	12/17	OMIM:602535
4784	NFIX	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:420179
4784	NFIX	HP:0005616	Accelerated skeletal maturation	HP:0040281	ORPHA:420179
4784	NFIX	HP:0005616	Accelerated skeletal maturation	4/5	OMIM:614753
4784	NFIX	HP:0005616	Accelerated skeletal maturation	1/2	OMIM:602535
4784	NFIX	HP:0005616	Accelerated skeletal maturation	HP:0040281	ORPHA:561
4784	NFIX	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:561
4784	NFIX	HP:0004396	Poor appetite	-	OMIM:131300
4784	NFIX	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4784	NFIX	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4784	NFIX	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4784	NFIX	HP:0003026	Short long bone	7/7	OMIM:615777
4784	NFIX	HP:0031936	Delayed ability to walk	1/2	OMIM:602535
4784	NFIX	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4784	NFIX	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:561
4784	NFIX	HP:0012741	Unilateral cryptorchidism	HP:0040283	ORPHA:447980
4784	NFIX	HP:0000752	Hyperactivity	HP:0040283	ORPHA:447980
4784	NFIX	HP:0000767	Pectus excavatum	1/2	OMIM:602535
4784	NFIX	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:420179
4784	NFIX	HP:0000767	Pectus excavatum	3/5	OMIM:614753
4784	NFIX	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4784	NFIX	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4784	NFIX	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4784	NFIX	HP:0000737	Irritability	HP:0040283	ORPHA:447980
4784	NFIX	HP:0000739	Anxiety	HP:0040283	ORPHA:420179
4784	NFIX	HP:0000739	Anxiety	3/3	OMIM:614753
4784	NFIX	HP:0000750	Delayed speech and language development	5/6	OMIM:602535
4784	NFIX	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:447980
4784	NFIX	HP:0000750	Delayed speech and language development	5/5	OMIM:614753
4784	NFIX	HP:0000750	Delayed speech and language development	-	OMIM:615777
4784	NFIX	HP:0000729	Autistic behavior	3/5	OMIM:614753
4784	NFIX	HP:0011463	Childhood onset	1/2	OMIM:614753
4784	NFIX	HP:0011461	Fetal onset	7/7	OMIM:615777
4784	NFIX	HP:0000774	Narrow chest	2/7	OMIM:615777
4784	NFIX	HP:0003100	Slender long bone	HP:0040282	ORPHA:420179
4784	NFIX	HP:0003100	Slender long bone	-	OMIM:602535
4784	NFIX	HP:0003100	Slender long bone	HP:0040281	ORPHA:561
4784	NFIX	HP:0030799	Scaphocephaly	HP:0040283	ORPHA:420179
4784	NFIX	HP:0003196	Short nose	22/28	OMIM:602535
4784	NFIX	HP:0003196	Short nose	HP:0040282	ORPHA:561
4784	NFIX	HP:0003196	Short nose	1/2	OMIM:614753
4784	NFIX	HP:0000926	Platyspondyly	1/7	OMIM:615777
4784	NFIX	HP:0003186	Inverted nipples	HP:0040283	ORPHA:447980
4784	NFIX	HP:0003184	Decreased hip abduction	1/2	OMIM:602535
4784	NFIX	HP:0003180	Flat acetabular roof	-	OMIM:615777
4784	NFIX	HP:0004482	Relative macrocephaly	-	OMIM:615777
4784	NFIX	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4784	NFIX	HP:0000879	Short sternum	-	OMIM:602535
4784	NFIX	HP:0000826	Precocious puberty	HP:0040283	ORPHA:447980
4784	NFIX	HP:0000822	Hypertension	-	OMIM:602535
4784	NFIX	HP:0000823	Delayed puberty	-	OMIM:131300
4784	NFIX	HP:0040079	Irregular dentition	8/14	OMIM:602535
4784	NFIX	HP:0000894	Short clavicles	-	OMIM:615777
4784	NFIX	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4784	NFIX	HP:0000998	Hypertrichosis	23/28	OMIM:602535
4784	NFIX	HP:0000995	Melanocytic nevus	1/2	OMIM:602535
4784	NFIX	HP:0010307	Stridor	1/2	OMIM:602535
4784	NFIX	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:561
4784	NFIX	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4784	NFIX	HP:0000965	Cutis marmorata	1/3	OMIM:614753
4784	NFIX	HP:0000963	Thin skin	HP:0040281	ORPHA:561
4784	NFIX	HP:0000939	Osteoporosis	HP:0040283	ORPHA:447980
4784	NFIX	HP:0008070	Sparse hair	1/2	OMIM:602535
4784	NFIX	HP:0000286	Epicanthus	HP:0040282	ORPHA:447980
4784	NFIX	HP:0000286	Epicanthus	1/7	OMIM:615777
4784	NFIX	HP:0000280	Coarse facial features	2/7	OMIM:615777
4784	NFIX	HP:0000278	Retrognathia	0/2	OMIM:614753
4784	NFIX	HP:0000278	Retrognathia	25/28	OMIM:602535
4784	NFIX	HP:0000278	Retrognathia	HP:0040281	ORPHA:561
4784	NFIX	HP:0000256	Macrocephaly	HP:0040282	ORPHA:420179
4784	NFIX	HP:0000256	Macrocephaly	3/3	OMIM:614753
4784	NFIX	HP:0000275	Narrow face	HP:0040282	ORPHA:420179
4784	NFIX	HP:0000275	Narrow face	4/5	OMIM:614753
4784	NFIX	HP:0000276	Long face	HP:0040282	ORPHA:447980
4784	NFIX	HP:0000276	Long face	4/5	OMIM:614753
4784	NFIX	HP:0000268	Dolichocephaly	1/2	OMIM:602535
4784	NFIX	HP:0000269	Prominent occiput	1/2	OMIM:602535
4784	NFIX	HP:0007766	Optic disc hypoplasia	HP:0040283	ORPHA:420179
4784	NFIX	HP:0002812	Coxa vara	1/2	OMIM:602535
4784	NFIX	HP:0002827	Hip dislocation	HP:0040283	ORPHA:447980
4784	NFIX	HP:0002827	Hip dislocation	3/7	OMIM:615777
4784	NFIX	HP:0030084	Clinodactyly	HP:0040283	ORPHA:447980
4784	NFIX	HP:0002808	Kyphosis	1/2	OMIM:602535
4784	NFIX	HP:0000238	Hydrocephalus	1/2	OMIM:602535
4784	NFIX	HP:0000252	Microcephaly	HP:0040281	ORPHA:447980
4784	NFIX	HP:0000252	Microcephaly	-	OMIM:615777
4784	NFIX	HP:0001548	Overgrowth	3/3	OMIM:614753
4784	NFIX	HP:0000218	High palate	1/2	OMIM:602535
4784	NFIX	HP:0000218	High palate	HP:0040283	ORPHA:420179
4784	NFIX	HP:0000212	Gingival overgrowth	12/28	OMIM:602535
4784	NFIX	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:561
4784	NFIX	HP:0000212	Gingival overgrowth	1/2	OMIM:614753
4784	NFIX	HP:0001545	Anteriorly placed anus	1/19	OMIM:602535
4784	NFIX	HP:0000232	Everted lower lip vermilion	3/5	OMIM:614753
4784	NFIX	HP:0002857	Genu valgum	-	OMIM:131300
4784	NFIX	HP:0002870	Obstructive sleep apnea	9/15	OMIM:602535
4784	NFIX	HP:0001537	Umbilical hernia	6/43	OMIM:602535
4784	NFIX	HP:0001539	Omphalocele	-	OMIM:602535
4784	NFIX	HP:0001533	Slender build	-	OMIM:131300
4784	NFIX	HP:0001508	Failure to thrive	1/2	OMIM:602535
4784	NFIX	HP:0001508	Failure to thrive	HP:0040281	ORPHA:561
4784	NFIX	HP:0030043	Hip subluxation	HP:0040283	ORPHA:447980
4784	NFIX	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:447980
4784	NFIX	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4784	NFIX	HP:0001510	Growth delay	HP:0040282	ORPHA:447980
4784	NFIX	HP:0007807	Optic nerve compression	-	OMIM:131300
4784	NFIX	HP:0012368	Flat face	7/7	OMIM:615777
4784	NFIX	HP:0000396	Overfolded helix	1/2	OMIM:602535
4784	NFIX	HP:0006536	Airway obstruction	16/17	OMIM:602535
4784	NFIX	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4784	NFIX	HP:0001601	Laryngomalacia	3/4	OMIM:602535
4784	NFIX	HP:0002942	Thoracic kyphosis	5/9	OMIM:602535
4784	NFIX	HP:0002943	Thoracic scoliosis	1/2	OMIM:602535
4784	NFIX	HP:0005176	Dysplastic aortic valve	1/2	OMIM:602535
4784	NFIX	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:561
4784	NFIX	HP:0000365	Hearing impairment	13/25	OMIM:602535
4784	NFIX	HP:0000365	Hearing impairment	10/67	OMIM:131300
4784	NFIX	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:447980
4784	NFIX	HP:0011003	High myopia	3/9	OMIM:602535
4784	NFIX	HP:0000369	Low-set ears	10/18	OMIM:602535
4784	NFIX	HP:0000369	Low-set ears	HP:0040282	ORPHA:447980
4784	NFIX	HP:0000340	Sloping forehead	HP:0040283	ORPHA:447980
4784	NFIX	HP:0000343	Long philtrum	1/7	OMIM:615777
4784	NFIX	HP:0011001	Increased bone mineral density	-	OMIM:131300
4784	NFIX	HP:0000337	Broad forehead	1/2	OMIM:602535
4784	NFIX	HP:0000348	High forehead	HP:0040282	ORPHA:420179
4784	NFIX	HP:0000348	High forehead	5/5	OMIM:614753
4784	NFIX	HP:0000348	High forehead	28/28	OMIM:602535
4784	NFIX	HP:0000347	Micrognathia	HP:0040282	ORPHA:447980
4784	NFIX	HP:0000316	Hypertelorism	HP:0040282	ORPHA:561
4784	NFIX	HP:0001643	Patent ductus arteriosus	1/17	OMIM:602535
4784	NFIX	HP:0000311	Round face	2/7	OMIM:615777
4784	NFIX	HP:0000322	Short philtrum	HP:0040282	ORPHA:447980
4784	NFIX	HP:0000322	Short philtrum	13/19	OMIM:602535
4784	NFIX	HP:0000325	Triangular face	1/2	OMIM:602535
4784	NFIX	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:420179
4784	NFIX	HP:0001629	Ventricular septal defect	2/9	OMIM:602535
4784	NFIX	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:447980
4784	NFIX	HP:0002970	Genu varum	-	OMIM:615777
4784	NFIX	HP:0000308	Microretrognathia	1/2	OMIM:602535
4784	NFIX	HP:0000307	Pointed chin	HP:0040283	ORPHA:420179
4784	NFIX	HP:0000300	Oval face	HP:0040282	ORPHA:420179
4784	NFIX	HP:0001631	Atrial septal defect	1/17	OMIM:602535
4784	NFIX	HP:0000303	Mandibular prognathia	-	OMIM:131300
4784	NFIX	HP:0000303	Mandibular prognathia	3/5	OMIM:614753
4784	NFIX	HP:0006682	Premature ventricular contraction	1/17	OMIM:602535
4784	NFIX	HP:0006642	Large sternal ossification centers	-	OMIM:602535
4784	NFIX	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:561
4784	NFIX	HP:0005280	Depressed nasal bridge	1/2	OMIM:602535
4784	NFIX	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:420179
4784	NFIX	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4784	NFIX	HP:0000483	Astigmatism	1/3	OMIM:614753
4784	NFIX	HP:0000486	Strabismus	3/5	OMIM:614753
4784	NFIX	HP:0000486	Strabismus	HP:0040282	ORPHA:420179
4784	NFIX	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:447980
4784	NFIX	HP:0012472	Eclabion	18/28	OMIM:602535
4784	NFIX	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:447980
4784	NFIX	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:420179
4784	NFIX	HP:0000494	Downslanted palpebral fissures	4/5	OMIM:614753
4784	NFIX	HP:0000490	Deeply set eye	HP:0040283	ORPHA:420179
4784	NFIX	HP:0000463	Anteverted nares	23/31	OMIM:602535
4784	NFIX	HP:0000463	Anteverted nares	HP:0040281	ORPHA:561
4784	NFIX	HP:0000470	Short neck	1/7	OMIM:615777
4784	NFIX	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4784	NFIX	HP:0001763	Pes planus	1/7	OMIM:615777
4784	NFIX	HP:0000453	Choanal atresia	-	OMIM:602535
4784	NFIX	HP:0000453	Choanal atresia	HP:0040283	ORPHA:561
4784	NFIX	HP:0000452	Choanal stenosis	8/27	OMIM:602535
4784	NFIX	HP:0000448	Prominent nose	HP:0040282	ORPHA:447980
4784	NFIX	HP:0000430	Underdeveloped nasal alae	HP:0040283	ORPHA:447980
4784	NFIX	HP:0001761	Pes cavus	HP:0040283	ORPHA:447980
4784	NFIX	HP:0001840	Metatarsus adductus	-	OMIM:615777
4784	NFIX	HP:0000520	Proptosis	2/4	OMIM:131300
4784	NFIX	HP:0000520	Proptosis	30/30	OMIM:602535
4784	NFIX	HP:0000520	Proptosis	7/7	OMIM:615777
4784	NFIX	HP:0000520	Proptosis	HP:0040281	ORPHA:561
4784	NFIX	HP:0001822	Hallux valgus	1/2	OMIM:602535
4784	NFIX	HP:0000506	Telecanthus	HP:0040282	ORPHA:447980
4784	NFIX	HP:0000501	Glaucoma	3/17	OMIM:602535
4784	NFIX	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:447980
4784	NFIX	HP:0000592	Blue sclerae	25/30	OMIM:602535
4784	NFIX	HP:0000592	Blue sclerae	2/7	OMIM:615777
4784	NFIX	HP:0000592	Blue sclerae	HP:0040282	ORPHA:561
4784	NFIX	HP:0000586	Shallow orbits	-	OMIM:602535
4784	NFIX	HP:0011220	Prominent forehead	HP:0040282	ORPHA:420179
4784	NFIX	HP:0011220	Prominent forehead	1/2	OMIM:602535
4784	NFIX	HP:0011220	Prominent forehead	HP:0040281	ORPHA:561
4784	NFIX	HP:0000574	Thick eyebrow	-	OMIM:602535
4784	NFIX	HP:0000540	Hypermetropia	HP:0040283	ORPHA:447980
4784	NFIX	HP:0000540	Hypermetropia	2/5	OMIM:614753
4784	NFIX	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4784	NFIX	HP:0012514	Lower limb pain	4/4	OMIM:131300
4784	NFIX	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:420179
4784	NFIX	HP:0000545	Myopia	9/18	OMIM:602535
4784	NFIX	HP:0000545	Myopia	HP:0040282	ORPHA:447980
4790	NFKB1	HP:0002582	Atrophic gastritis	1/20	OMIM:616576
4790	NFKB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616576
4790	NFKB1	HP:0025452	Pyoderma gangrenosum	1/20	OMIM:616576
4790	NFKB1	HP:0002719	Recurrent infections	-	OMIM:616576
4790	NFKB1	HP:0002110	Bronchiectasis	2/20	OMIM:616576
4790	NFKB1	HP:0003581	Adult onset	10/13	OMIM:616576
4790	NFKB1	HP:0003621	Juvenile onset	1/13	OMIM:616576
4790	NFKB1	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:616576
4790	NFKB1	HP:0011463	Childhood onset	2/13	OMIM:616576
4790	NFKB1	HP:0001596	Alopecia	3/20	OMIM:616576
4790	NFKB1	HP:0001581	Recurrent skin infections	1/20	OMIM:616576
4790	NFKB1	HP:0006510	Chronic pulmonary obstruction	4/20	OMIM:616576
4790	NFKB1	HP:0006532	Recurrent pneumonia	8/20	OMIM:616576
4790	NFKB1	HP:0005387	Combined immunodeficiency	14/20	OMIM:616576
4790	NFKB1	HP:0011108	Recurrent sinusitis	3/20	OMIM:616576
4790	NFKB1	HP:0005425	Recurrent sinopulmonary infections	2/20	OMIM:616576
4790	NFKB1	HP:0001890	Autoimmune hemolytic anemia	2/20	OMIM:616576
4790	NFKB1	HP:0001873	Thrombocytopenia	3/20	OMIM:616576
4791	NFKB2	HP:0003765	Psoriasiform dermatitis	HP:0040283	ORPHA:293978
4791	NFKB2	HP:0003765	Psoriasiform dermatitis	1/4	OMIM:615577
4791	NFKB2	HP:0100803	Abnormal periungual morphology	HP:0040282	ORPHA:293978
4791	NFKB2	HP:0100806	Sepsis	HP:0040283	ORPHA:293978
4791	NFKB2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:293978
4791	NFKB2	HP:0001263	Global developmental delay	1/4	OMIM:615577
4791	NFKB2	HP:0007418	Alopecia totalis	HP:0040283	ORPHA:293978
4791	NFKB2	HP:0007418	Alopecia totalis	2/4	OMIM:615577
4791	NFKB2	HP:0031074	Abnormal response to ACTH stimulation test	2/2	OMIM:615577
4791	NFKB2	HP:0025379	Anti-thyroid peroxidase antibody positivity	2/4	OMIM:615577
4791	NFKB2	HP:0001325	Hypoglycemic coma	HP:0040281	ORPHA:293978
4791	NFKB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:615577
4791	NFKB2	HP:0002615	Hypotension	HP:0040281	ORPHA:293978
4791	NFKB2	HP:0410028	Recurrent oral herpes	3/4	OMIM:615577
4791	NFKB2	HP:0002788	Recurrent upper respiratory tract infections	HP:0040281	ORPHA:293978
4791	NFKB2	HP:0002720	Decreased circulating IgA concentration	4/4	OMIM:615577
4791	NFKB2	HP:0002021	Pyloric stenosis	1/4	OMIM:615577
4791	NFKB2	HP:0002099	Asthma	4/4	OMIM:615577
4791	NFKB2	HP:0011734	Central adrenal insufficiency	4/4	OMIM:615577
4791	NFKB2	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	HP:0040281	ORPHA:293978
4791	NFKB2	HP:0033166	Recurrent viral upper respiratory tract infections	4/4	OMIM:615577
4791	NFKB2	HP:0008163	Decreased circulating cortisol level	HP:0040281	ORPHA:293978
4791	NFKB2	HP:0002153	Hyperkalemia	-	ORPHA:293978
4791	NFKB2	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:293978
4791	NFKB2	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:293978
4791	NFKB2	HP:0100776	Recurrent pharyngitis	HP:0040281	ORPHA:293978
4791	NFKB2	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:293978
4791	NFKB2	HP:0032069	Anti-thyroglobulin antibody positivity	1/4	OMIM:615577
4791	NFKB2	HP:0007099	Chiari type I malformation	2/4	OMIM:615577
4791	NFKB2	HP:0001045	Vitiligo	-	ORPHA:293978
4791	NFKB2	HP:0100646	Thyroiditis	-	ORPHA:293978
4791	NFKB2	HP:0000651	Diplopia	HP:0040283	ORPHA:293978
4791	NFKB2	HP:0001973	Autoimmune thrombocytopenia	HP:0040283	ORPHA:293978
4791	NFKB2	HP:0001943	Hypoglycemia	-	OMIM:615577
4791	NFKB2	HP:0001988	Recurrent hypoglycemia	HP:0040281	ORPHA:293978
4791	NFKB2	HP:0004315	Decreased circulating IgG concentration	4/4	OMIM:615577
4791	NFKB2	HP:0004332	Abnormal lymphocyte morphology	HP:0040282	ORPHA:293978
4791	NFKB2	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:293978
4791	NFKB2	HP:0011463	Childhood onset	4/4	OMIM:615577
4791	NFKB2	HP:0004429	Recurrent viral infections	HP:0040281	ORPHA:293978
4791	NFKB2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:293978
4791	NFKB2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	OMIM:615577
4791	NFKB2	HP:0030804	Trachyonychia	2/4	OMIM:615577
4791	NFKB2	HP:0001596	Alopecia	HP:0040282	ORPHA:293978
4791	NFKB2	HP:0030057	Autoimmune antibody positivity	-	ORPHA:293978
4791	NFKB2	HP:0012203	Onychomycosis	1/4	OMIM:615577
4791	NFKB2	HP:0001508	Failure to thrive	HP:0040283	ORPHA:293978
4791	NFKB2	HP:0002837	Recurrent bronchitis	HP:0040281	ORPHA:293978
4791	NFKB2	HP:0002850	Decreased circulating total IgM	4/4	OMIM:615577
4791	NFKB2	HP:0012378	Fatigue	HP:0040281	ORPHA:293978
4791	NFKB2	HP:0005215	Frequent Giardia lamblia infestation	2/4	OMIM:615577
4791	NFKB2	HP:0006532	Recurrent pneumonia	HP:0040281	ORPHA:293978
4791	NFKB2	HP:0006532	Recurrent pneumonia	3/4	OMIM:615577
4791	NFKB2	HP:0002920	Decreased circulating ACTH concentration	HP:0040281	ORPHA:293978
4791	NFKB2	HP:0002902	Hyponatremia	HP:0040281	ORPHA:293978
4791	NFKB2	HP:0005387	Combined immunodeficiency	4/4	OMIM:615577
4791	NFKB2	HP:0005365	Severe B lymphocytopenia	HP:0040281	ORPHA:293978
4791	NFKB2	HP:0000403	Recurrent otitis media	HP:0040281	ORPHA:293978
4791	NFKB2	HP:0000403	Recurrent otitis media	3/4	OMIM:615577
4791	NFKB2	HP:0011108	Recurrent sinusitis	HP:0040281	ORPHA:293978
4791	NFKB2	HP:0011108	Recurrent sinusitis	3/4	OMIM:615577
4791	NFKB2	HP:0012504	Abnormal size of pituitary gland	HP:0040282	ORPHA:293978
4791	NFKB2	HP:0030349	Decreased circulating androgen concentration	HP:0040283	ORPHA:293978
4791	NFKB2	HP:0030353	Decreased serum insulin-like growth factor 1	HP:0040283	ORPHA:293978
4792	NFKBIA	HP:0033581	Absent peripheral lymph nodes in presence of infection	HP:0040282	ORPHA:98813
4792	NFKBIA	HP:0100828	Increased total T cell count	HP:0040282	ORPHA:98813
4792	NFKBIA	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:98813
4792	NFKBIA	HP:0031188	Genital edema	HP:0040283	ORPHA:98813
4792	NFKBIA	HP:0007476	Anhidrotic ectodermal dysplasia	1/1	OMIM:612132
4792	NFKBIA	HP:0000006	Autosomal dominant inheritance	-	OMIM:612132
4792	NFKBIA	HP:0002718	Recurrent bacterial infections	HP:0040281	ORPHA:98813
4792	NFKBIA	HP:0002728	Chronic mucocutaneous candidiasis	HP:0040282	ORPHA:98813
4792	NFKBIA	HP:0002720	Decreased circulating IgA concentration	HP:0040283	ORPHA:98813
4792	NFKBIA	HP:0002037	Inflammation of the large intestine	HP:0040282	ORPHA:98813
4792	NFKBIA	HP:0002028	Chronic diarrhea	1/1	OMIM:612132
4792	NFKBIA	HP:0002028	Chronic diarrhea	HP:0040282	ORPHA:98813
4792	NFKBIA	HP:0002007	Frontal bossing	-	OMIM:612132
4792	NFKBIA	HP:0002046	Heat intolerance	-	OMIM:612132
4792	NFKBIA	HP:0004798	Recurrent infection of the gastrointestinal tract	-	OMIM:612132
4792	NFKBIA	HP:0003496	Increased circulating IgM level	HP:0040283	ORPHA:98813
4792	NFKBIA	HP:0003593	Infantile onset	1/1	OMIM:612132
4792	NFKBIA	HP:0002240	Hepatomegaly	1/1	OMIM:612132
4792	NFKBIA	HP:0002209	Sparse scalp hair	1/1	OMIM:612132
4792	NFKBIA	HP:0002205	Recurrent respiratory infections	1/1	OMIM:612132
4792	NFKBIA	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:98813
4792	NFKBIA	HP:0010701	Abnormal circulating immunoglobulin concentration	HP:0040281	ORPHA:98813
4792	NFKBIA	HP:0020101	Invasive fungal infection	HP:0040283	ORPHA:98813
4792	NFKBIA	HP:0010741	Pedal edema	HP:0040283	ORPHA:98813
4792	NFKBIA	HP:0000698	Conical tooth	1/1	OMIM:612132
4792	NFKBIA	HP:0000698	Conical tooth	HP:0040281	ORPHA:98813
4792	NFKBIA	HP:0000668	Hypodontia	-	OMIM:612132
4792	NFKBIA	HP:0004315	Decreased circulating IgG concentration	HP:0040283	ORPHA:98813
4792	NFKBIA	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040283	ORPHA:98813
4792	NFKBIA	HP:0040075	Hypopituitarism	HP:0040283	ORPHA:98813
4792	NFKBIA	HP:0003237	Increased circulating IgG concentration	HP:0040283	ORPHA:98813
4792	NFKBIA	HP:0003212	Increased circulating IgE concentration	HP:0040283	ORPHA:98813
4792	NFKBIA	HP:0000958	Dry skin	1/1	OMIM:612132
4792	NFKBIA	HP:0000970	Anhidrosis	-	OMIM:612132
4792	NFKBIA	HP:0000968	Ectodermal dysplasia	HP:0040281	ORPHA:98813
4792	NFKBIA	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:98813
4792	NFKBIA	HP:0000966	Hypohidrosis	-	OMIM:612132
4792	NFKBIA	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:98813
4792	NFKBIA	HP:0000938	Osteopenia	HP:0040283	ORPHA:98813
4792	NFKBIA	HP:0008070	Sparse hair	HP:0040281	ORPHA:98813
4792	NFKBIA	HP:0008070	Sparse hair	-	OMIM:612132
4792	NFKBIA	HP:0001508	Failure to thrive	1/1	OMIM:612132
4792	NFKBIA	HP:0001508	Failure to thrive	HP:0040281	ORPHA:98813
4792	NFKBIA	HP:0002850	Decreased circulating total IgM	HP:0040283	ORPHA:98813
4792	NFKBIA	HP:0001510	Growth delay	HP:0040281	ORPHA:98813
4792	NFKBIA	HP:0002960	Autoimmunity	HP:0040283	ORPHA:98813
4792	NFKBIA	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:98813
4792	NFKBIA	HP:0011136	Aplasia of the sweat glands	-	OMIM:612132
4792	NFKBIA	HP:0011114	Defective production of NFKB1-dependent cytokines	-	OMIM:612132
4792	NFKBIA	HP:0011120	Concave nasal ridge	-	OMIM:612132
4792	NFKBIA	HP:0011108	Recurrent sinusitis	HP:0040283	ORPHA:98813
4792	NFKBIA	HP:0001744	Splenomegaly	1/1	OMIM:612132
4792	NFKBIA	HP:0005404	Increased total B cell count	HP:0040282	ORPHA:98813
4792	NFKBIA	HP:0011274	Recurrent mycobacterial infections	HP:0040282	ORPHA:98813
4792	NFKBIA	HP:0031691	Severe viral infection	HP:0040283	ORPHA:98813
4795	NFKBIL1	HP:0001370	Rheumatoid arthritis	-	OMIM:180300
4795	NFKBIL1	HP:0001386	Joint swelling	-	OMIM:180300
4795	NFKBIL1	HP:0001387	Joint stiffness	-	OMIM:180300
4795	NFKBIL1	HP:0006150	Swan neck-like deformities of the fingers	-	OMIM:180300
4795	NFKBIL1	HP:0002633	Vasculitis	-	OMIM:180300
4795	NFKBIL1	HP:0006252	Interphalangeal joint erosions	-	OMIM:180300
4795	NFKBIL1	HP:0003565	Elevated erythrocyte sedimentation rate	-	OMIM:180300
4795	NFKBIL1	HP:0001945	Fever	-	OMIM:180300
4795	NFKBIL1	HP:0005764	Polyarticular arthritis	-	OMIM:180300
4795	NFKBIL1	HP:0033034	Anti-citrullinated protein antibody positivity	-	OMIM:180300
4795	NFKBIL1	HP:0012276	Digital flexor tenosynovitis	-	OMIM:180300
4795	NFKBIL1	HP:0002829	Arthralgia	-	OMIM:180300
4795	NFKBIL1	HP:0012378	Fatigue	-	OMIM:180300
4795	NFKBIL1	HP:0002923	Rheumatoid factor positive	-	OMIM:180300
4795	NFKBIL1	HP:0001824	Weight loss	-	OMIM:180300
4795	NFKBIL1	HP:0011227	Elevated circulating C-reactive protein concentration	-	OMIM:180300
4796	TONSL	HP:0001169	Broad palm	HP:0040283	ORPHA:93357
4796	TONSL	HP:0001156	Brachydactyly	3/9	OMIM:271510
4796	TONSL	HP:0001156	Brachydactyly	HP:0040282	ORPHA:93357
4796	TONSL	HP:0010941	Aplasia of the nasal bone	HP:0040283	ORPHA:93357
4796	TONSL	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4796	TONSL	HP:0001293	Cranial nerve compression	-	OMIM:131300
4796	TONSL	HP:0001252	Hypotonia	2/7	OMIM:615777
4796	TONSL	HP:0001249	Intellectual disability	HP:0040283	OMIM:271510
4796	TONSL	HP:0001249	Intellectual disability	5/7	OMIM:615777
4796	TONSL	HP:0001263	Global developmental delay	HP:0040283	ORPHA:93357
4796	TONSL	HP:0001263	Global developmental delay	-	OMIM:615777
4796	TONSL	HP:0003895	Flattened humeral epiphyses	HP:0040283	ORPHA:93357
4796	TONSL	HP:0008755	Laryngotracheomalacia	-	OMIM:271510
4796	TONSL	HP:0100864	Short femoral neck	HP:0040282	ORPHA:93357
4796	TONSL	HP:0001216	Delayed ossification of carpal bones	-	OMIM:271510
4796	TONSL	HP:0002515	Waddling gait	54/102	OMIM:131300
4796	TONSL	HP:0001377	Limited elbow extension	HP:0040283	ORPHA:93357
4796	TONSL	HP:0001377	Limited elbow extension	-	OMIM:271510
4796	TONSL	HP:0001382	Joint hypermobility	-	OMIM:615777
4796	TONSL	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:93357
4796	TONSL	HP:0000047	Hypospadias	HP:0040283	ORPHA:93357
4796	TONSL	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4796	TONSL	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4796	TONSL	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:93357
4796	TONSL	HP:0008873	Disproportionate short-limb short stature	8/9	OMIM:271510
4796	TONSL	HP:0002663	Delayed epiphyseal ossification	HP:0040283	ORPHA:93357
4796	TONSL	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4796	TONSL	HP:0001324	Muscle weakness	40/96	OMIM:131300
4796	TONSL	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4796	TONSL	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4796	TONSL	HP:0000007	Autosomal recessive inheritance	-	OMIM:271510
4796	TONSL	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4796	TONSL	HP:0002650	Scoliosis	12/14	OMIM:131300
4796	TONSL	HP:0002650	Scoliosis	HP:0040283	ORPHA:93357
4796	TONSL	HP:0002651	Spondyloepimetaphyseal dysplasia	-	OMIM:271510
4796	TONSL	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4796	TONSL	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4796	TONSL	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4796	TONSL	HP:0025492	Microcoria	HP:0040283	ORPHA:93357
4796	TONSL	HP:0008905	Rhizomelia	HP:0040282	ORPHA:93357
4796	TONSL	HP:0008905	Rhizomelia	3/9	OMIM:271510
4796	TONSL	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4796	TONSL	HP:0000164	Abnormality of the dentition	-	OMIM:271510
4796	TONSL	HP:0000175	Cleft palate	2/7	OMIM:615777
4796	TONSL	HP:0006336	Short dental root	HP:0040283	ORPHA:93357
4796	TONSL	HP:0006336	Short dental root	-	OMIM:271510
4796	TONSL	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:93357
4796	TONSL	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:93357
4796	TONSL	HP:0002751	Kyphoscoliosis	1/9	OMIM:271510
4796	TONSL	HP:0002750	Delayed skeletal maturation	-	OMIM:271510
4796	TONSL	HP:0002007	Frontal bossing	-	OMIM:271510
4796	TONSL	HP:0002007	Frontal bossing	HP:0040283	ORPHA:93357
4796	TONSL	HP:0004646	Hypoplasia of the nasal bone	HP:0040283	ORPHA:93357
4796	TONSL	HP:0011800	Midface retrusion	-	OMIM:271510
4796	TONSL	HP:0011800	Midface retrusion	HP:0040281	ORPHA:93357
4796	TONSL	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:93357
4796	TONSL	HP:0003370	Flat capital femoral epiphysis	HP:0040283	ORPHA:93357
4796	TONSL	HP:0003370	Flat capital femoral epiphysis	-	OMIM:271510
4796	TONSL	HP:0003388	Easy fatigability	36/76	OMIM:131300
4796	TONSL	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4796	TONSL	HP:0004603	Hyperconvex vertebral body endplates	HP:0040283	ORPHA:93357
4796	TONSL	HP:0010585	Small epiphyses	HP:0040283	ORPHA:93357
4796	TONSL	HP:0010585	Small epiphyses	2/9	OMIM:271510
4796	TONSL	HP:0003510	Severe short stature	7/7	OMIM:615777
4796	TONSL	HP:0002315	Headache	-	OMIM:131300
4796	TONSL	HP:0004976	Knee dislocation	6/7	OMIM:615777
4796	TONSL	HP:0009826	Limb undergrowth	HP:0040282	ORPHA:93357
4796	TONSL	HP:0009803	Short phalanx of finger	-	OMIM:615777
4796	TONSL	HP:0008486	Lumbar interpedicular narrowing	-	OMIM:271510
4796	TONSL	HP:0008450	Narrow vertebral interpedicular distance	1/9	OMIM:271510
4796	TONSL	HP:0010740	Osteopathia striata	HP:0040283	ORPHA:93357
4796	TONSL	HP:0009763	Limb pain	63/92	OMIM:131300
4796	TONSL	HP:0002308	Chiari malformation	HP:0040283	ORPHA:93357
4796	TONSL	HP:0002308	Chiari malformation	HP:0040284	OMIM:271510
4796	TONSL	HP:0003621	Juvenile onset	-	OMIM:131300
4796	TONSL	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:93357
4796	TONSL	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4796	TONSL	HP:0004279	Short palm	HP:0040283	ORPHA:93357
4796	TONSL	HP:0006889	Intellectual disability, borderline	HP:0040283	ORPHA:93357
4796	TONSL	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4796	TONSL	HP:0006887	Intellectual disability, progressive	-	OMIM:271510
4796	TONSL	HP:0000639	Nystagmus	HP:0040283	ORPHA:93357
4796	TONSL	HP:6001056	Out-toeing	-	OMIM:131300
4796	TONSL	HP:0000651	Diplopia	-	OMIM:131300
4796	TONSL	HP:0001956	Truncal obesity	2/7	OMIM:615777
4796	TONSL	HP:0001903	Anemia	HP:0040283	OMIM:131300
4796	TONSL	HP:0010049	Short metacarpal	-	OMIM:615777
4796	TONSL	HP:0000696	Delayed eruption of permanent teeth	HP:0040283	ORPHA:93357
4796	TONSL	HP:0000678	Dental crowding	-	OMIM:615777
4796	TONSL	HP:0000691	Microdontia	HP:0040283	ORPHA:93357
4796	TONSL	HP:0000670	Carious teeth	-	OMIM:131300
4796	TONSL	HP:0011304	Broad thumb	2/7	OMIM:615777
4796	TONSL	HP:0000668	Hypodontia	-	OMIM:615777
4796	TONSL	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:93357
4796	TONSL	HP:0000664	Synophrys	-	OMIM:615777
4796	TONSL	HP:0004315	Decreased circulating IgG concentration	-	OMIM:271510
4796	TONSL	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040283	ORPHA:93357
4796	TONSL	HP:0004396	Poor appetite	-	OMIM:131300
4796	TONSL	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4796	TONSL	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4796	TONSL	HP:0003015	Flared metaphysis	HP:0040283	ORPHA:93357
4796	TONSL	HP:0003016	Metaphyseal widening	HP:0040283	ORPHA:93357
4796	TONSL	HP:0003016	Metaphyseal widening	4/9	OMIM:271510
4796	TONSL	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4796	TONSL	HP:0003026	Short long bone	7/7	OMIM:615777
4796	TONSL	HP:0003026	Short long bone	HP:0040283	ORPHA:93357
4796	TONSL	HP:0003027	Mesomelia	HP:0040283	ORPHA:93357
4796	TONSL	HP:0003027	Mesomelia	1/9	OMIM:271510
4796	TONSL	HP:0003025	Metaphyseal irregularity	HP:0040282	ORPHA:93357
4796	TONSL	HP:0003025	Metaphyseal irregularity	8/9	OMIM:271510
4796	TONSL	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4796	TONSL	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4796	TONSL	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4796	TONSL	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4796	TONSL	HP:0000750	Delayed speech and language development	-	OMIM:615777
4796	TONSL	HP:0011461	Fetal onset	7/7	OMIM:615777
4796	TONSL	HP:0000774	Narrow chest	2/7	OMIM:615777
4796	TONSL	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040283	ORPHA:93357
4796	TONSL	HP:0003196	Short nose	-	OMIM:271510
4796	TONSL	HP:0003196	Short nose	HP:0040283	ORPHA:93357
4796	TONSL	HP:0000925	Abnormality of the vertebral column	HP:0040281	ORPHA:93357
4796	TONSL	HP:0000926	Platyspondyly	1/7	OMIM:615777
4796	TONSL	HP:0000926	Platyspondyly	HP:0040281	ORPHA:93357
4796	TONSL	HP:0000926	Platyspondyly	8/9	OMIM:271510
4796	TONSL	HP:0003182	Shallow acetabular fossae	HP:0040283	ORPHA:93357
4796	TONSL	HP:0003180	Flat acetabular roof	-	OMIM:615777
4796	TONSL	HP:0004482	Relative macrocephaly	HP:0040283	ORPHA:93357
4796	TONSL	HP:0004482	Relative macrocephaly	-	OMIM:271510
4796	TONSL	HP:0004482	Relative macrocephaly	-	OMIM:615777
4796	TONSL	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4796	TONSL	HP:0000851	Congenital hypothyroidism	HP:0040284	OMIM:271510
4796	TONSL	HP:0000826	Precocious puberty	HP:0040283	ORPHA:93357
4796	TONSL	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:93357
4796	TONSL	HP:0000823	Delayed puberty	-	OMIM:131300
4796	TONSL	HP:0010234	Ivory epiphyses of the phalanges of the hand	HP:0040283	ORPHA:93357
4796	TONSL	HP:0000894	Short clavicles	-	OMIM:615777
4796	TONSL	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4796	TONSL	HP:0040221	Hypoplasia of the dental root	HP:0040283	ORPHA:93357
4796	TONSL	HP:0004586	Biconcave vertebral bodies	HP:0040282	ORPHA:93357
4796	TONSL	HP:0004586	Biconcave vertebral bodies	5/9	OMIM:271510
4796	TONSL	HP:0030839	Knee pain	HP:0040283	ORPHA:93357
4796	TONSL	HP:0030834	Shoulder pain	HP:0040283	ORPHA:93357
4796	TONSL	HP:0030833	Neck pain	HP:0040283	ORPHA:93357
4796	TONSL	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4796	TONSL	HP:0000938	Osteopenia	-	OMIM:271510
4796	TONSL	HP:0007707	Congenital aphakia	HP:0040283	ORPHA:93357
4796	TONSL	HP:0000286	Epicanthus	1/7	OMIM:615777
4796	TONSL	HP:0000286	Epicanthus	HP:0040283	ORPHA:93357
4796	TONSL	HP:0000280	Coarse facial features	2/7	OMIM:615777
4796	TONSL	HP:0000276	Long face	HP:0040283	ORPHA:93357
4796	TONSL	HP:0000272	Malar flattening	-	OMIM:271510
4796	TONSL	HP:0007787	Posterior subcapsular cataract	-	OMIM:271510
4796	TONSL	HP:0002812	Coxa vara	HP:0040283	ORPHA:93357
4796	TONSL	HP:0002812	Coxa vara	-	OMIM:271510
4796	TONSL	HP:0002827	Hip dislocation	3/7	OMIM:615777
4796	TONSL	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93357
4796	TONSL	HP:0000252	Microcephaly	-	OMIM:615777
4796	TONSL	HP:0002857	Genu valgum	-	OMIM:131300
4796	TONSL	HP:0002857	Genu valgum	HP:0040282	ORPHA:93357
4796	TONSL	HP:0002857	Genu valgum	3/9	OMIM:271510
4796	TONSL	HP:0001533	Slender build	-	OMIM:131300
4796	TONSL	HP:0031367	Metaphyseal striations	HP:0040282	ORPHA:93357
4796	TONSL	HP:0031367	Metaphyseal striations	7/9	OMIM:271510
4796	TONSL	HP:0030043	Hip subluxation	HP:0040283	ORPHA:93357
4796	TONSL	HP:0001518	Small for gestational age	HP:0040282	ORPHA:93357
4796	TONSL	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4796	TONSL	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:93357
4796	TONSL	HP:0007807	Optic nerve compression	-	OMIM:131300
4796	TONSL	HP:0012368	Flat face	7/7	OMIM:615777
4796	TONSL	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:93357
4796	TONSL	HP:0001607	Subglottic stenosis	HP:0040283	ORPHA:93357
4796	TONSL	HP:0001607	Subglottic stenosis	-	OMIM:271510
4796	TONSL	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4796	TONSL	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:93357
4796	TONSL	HP:0002938	Lumbar hyperlordosis	-	OMIM:271510
4796	TONSL	HP:0002942	Thoracic kyphosis	-	OMIM:271510
4796	TONSL	HP:0000365	Hearing impairment	10/67	OMIM:131300
4796	TONSL	HP:0000343	Long philtrum	1/7	OMIM:615777
4796	TONSL	HP:0011001	Increased bone mineral density	-	OMIM:131300
4796	TONSL	HP:0000316	Hypertelorism	-	OMIM:271510
4796	TONSL	HP:0000311	Round face	2/7	OMIM:615777
4796	TONSL	HP:0001621	Weak voice	HP:0040283	ORPHA:93357
4796	TONSL	HP:0002970	Genu varum	-	OMIM:271510
4796	TONSL	HP:0002970	Genu varum	-	OMIM:615777
4796	TONSL	HP:0000303	Mandibular prognathia	-	OMIM:131300
4796	TONSL	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:93357
4796	TONSL	HP:0000303	Mandibular prognathia	-	OMIM:271510
4796	TONSL	HP:0005280	Depressed nasal bridge	-	OMIM:271510
4796	TONSL	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4796	TONSL	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:93357
4796	TONSL	HP:0000463	Anteverted nares	-	OMIM:271510
4796	TONSL	HP:0000463	Anteverted nares	HP:0040283	ORPHA:93357
4796	TONSL	HP:0000470	Short neck	1/7	OMIM:615777
4796	TONSL	HP:0001773	Short foot	HP:0040283	ORPHA:93357
4796	TONSL	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4796	TONSL	HP:0001769	Broad foot	HP:0040283	ORPHA:93357
4796	TONSL	HP:0001763	Pes planus	1/7	OMIM:615777
4796	TONSL	HP:0001763	Pes planus	HP:0040283	ORPHA:93357
4796	TONSL	HP:0000445	Wide nose	HP:0040283	ORPHA:93357
4796	TONSL	HP:0000414	Bulbous nose	-	OMIM:271510
4796	TONSL	HP:0005446	Obtuse angle of mandible	HP:0040283	ORPHA:93357
4796	TONSL	HP:0000518	Cataract	HP:0040283	ORPHA:93357
4796	TONSL	HP:0001840	Metatarsus adductus	-	OMIM:615777
4796	TONSL	HP:0000520	Proptosis	2/4	OMIM:131300
4796	TONSL	HP:0000520	Proptosis	7/7	OMIM:615777
4796	TONSL	HP:0000592	Blue sclerae	2/7	OMIM:615777
4796	TONSL	HP:0011220	Prominent forehead	HP:0040283	ORPHA:93357
4796	TONSL	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4796	TONSL	HP:0012514	Lower limb pain	4/4	OMIM:131300
4796	TONSL	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:93357
4796	TONSL	HP:0001875	Decreased total neutrophil count	HP:0040284	OMIM:271510
4803	NGF	HP:0002495	Impaired vibratory sensation	1/3	OMIM:608654
4803	NGF	HP:0007328	Impaired pain sensation	3/3	OMIM:608654
4803	NGF	HP:0007249	Decreased number of small peripheral myelinated nerve fibers	HP:0040282	ORPHA:64752
4803	NGF	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:64752
4803	NGF	HP:0001256	Intellectual disability, mild	HP:0040283	OMIM:608654
4803	NGF	HP:0000020	Urinary incontinence	1/3	OMIM:608654
4803	NGF	HP:0006121	Acral ulceration	-	OMIM:608654
4803	NGF	HP:0002661	Painless fractures due to injury	HP:0040282	ORPHA:64752
4803	NGF	HP:0002661	Painless fractures due to injury	3/3	OMIM:608654
4803	NGF	HP:0000007	Autosomal recessive inheritance	-	OMIM:608654
4803	NGF	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:64752
4803	NGF	HP:0000168	Abnormality of the gingiva	HP:0040282	ORPHA:64752
4803	NGF	HP:0002757	Recurrent fractures	1/3	OMIM:608654
4803	NGF	HP:0002758	Osteoarthritis	1/3	OMIM:608654
4803	NGF	HP:0002754	Osteomyelitis	-	OMIM:608654
4803	NGF	HP:0002019	Constipation	1/3	OMIM:608654
4803	NGF	HP:0002014	Diarrhea	1/3	OMIM:608654
4803	NGF	HP:0003419	Low back pain	1/3	OMIM:608654
4803	NGF	HP:0003593	Infantile onset	-	OMIM:608654
4803	NGF	HP:0007021	Pain insensitivity	HP:0040282	ORPHA:64752
4803	NGF	HP:0007021	Pain insensitivity	3/3	OMIM:608654
4803	NGF	HP:0001058	Poor wound healing	HP:0040282	ORPHA:64752
4803	NGF	HP:0002378	Hand tremor	1/3	OMIM:608654
4803	NGF	HP:0010829	Impaired temperature sensation	HP:0040282	ORPHA:64752
4803	NGF	HP:0010829	Impaired temperature sensation	1/3	OMIM:608654
4803	NGF	HP:0009830	Peripheral neuropathy	3/3	OMIM:608654
4803	NGF	HP:0003621	Juvenile onset	2/3	OMIM:608654
4803	NGF	HP:0001954	Recurrent fever	HP:0040283	OMIM:608654
4803	NGF	HP:0003040	Arthropathy	1/3	OMIM:608654
4803	NGF	HP:0011463	Childhood onset	1/3	OMIM:608654
4803	NGF	HP:0003095	Septic arthritis	1/3	OMIM:608654
4803	NGF	HP:0000970	Anhidrosis	HP:0040282	ORPHA:64752
4803	NGF	HP:0000970	Anhidrosis	0/3	OMIM:608654
4803	NGF	HP:0000272	Malar flattening	HP:0040282	ORPHA:64752
4803	NGF	HP:0000490	Deeply set eye	HP:0040282	ORPHA:64752
4808	NHLH2	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:432
4808	NHLH2	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:432
4808	NHLH2	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:432
4808	NHLH2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:432
4808	NHLH2	HP:0000054	Micropenis	HP:0040281	ORPHA:432
4808	NHLH2	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:432
4808	NHLH2	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:432
4808	NHLH2	HP:0000027	Azoospermia	HP:0040281	ORPHA:432
4808	NHLH2	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:432
4808	NHLH2	HP:0000013	Hypoplasia of the uterus	HP:0040282	ORPHA:432
4808	NHLH2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619755
4808	NHLH2	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:432
4808	NHLH2	HP:0000175	Cleft palate	HP:0040283	ORPHA:432
4808	NHLH2	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:432
4808	NHLH2	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:432
4808	NHLH2	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:432
4808	NHLH2	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:432
4808	NHLH2	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:432
4808	NHLH2	HP:0008197	Absence of pubertal development	1/1	OMIM:619755
4808	NHLH2	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:432
4808	NHLH2	HP:0002231	Sparse body hair	HP:0040281	ORPHA:432
4808	NHLH2	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:432
4808	NHLH2	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:432
4808	NHLH2	HP:0003621	Juvenile onset	1/1	OMIM:619755
4808	NHLH2	HP:0020159	Reduced response to gonadotropin-releasing hormone stimulation test	1/1	OMIM:619755
4808	NHLH2	HP:0000802	Impotence	HP:0040281	ORPHA:432
4808	NHLH2	HP:0000771	Gynecomastia	HP:0040282	ORPHA:432
4808	NHLH2	HP:0000739	Anxiety	HP:0040282	ORPHA:432
4808	NHLH2	HP:0000716	Depression	HP:0040282	ORPHA:432
4808	NHLH2	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:432
4808	NHLH2	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:432
4808	NHLH2	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:432
4808	NHLH2	HP:0000823	Delayed puberty	HP:0040282	ORPHA:432
4808	NHLH2	HP:0000939	Osteoporosis	HP:0040282	ORPHA:432
4808	NHLH2	HP:0000938	Osteopenia	HP:0040282	ORPHA:432
4808	NHLH2	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:432
4808	NHLH2	HP:0030019	Increased female libido	HP:0040281	ORPHA:432
4808	NHLH2	HP:0001513	Obesity	1/1	OMIM:619755
4808	NHLH2	HP:0012385	Camptodactyly	HP:0040283	ORPHA:432
4808	NHLH2	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:432
4808	NHLH2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:432
4808	NHLH2	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:432
4808	NHLH2	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:432
4808	NHLH2	HP:0000458	Anosmia	0/1	OMIM:619755
4808	NHLH2	HP:0030344	Decreased circulating luteinizing hormone level	1/1	OMIM:619755
4808	NHLH2	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1/1	OMIM:619755
4810	NHS	HP:0001141	Severely reduced visual acuity	-	OMIM:302200
4810	NHS	HP:0001249	Intellectual disability	HP:0040282	ORPHA:627
4810	NHS	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:627
4810	NHS	HP:0006346	Screwdriver-shaped incisors	3/3	OMIM:302350
4810	NHS	HP:0006332	Supernumerary maxillary incisor	-	OMIM:302350
4810	NHS	HP:0001423	X-linked dominant inheritance	-	OMIM:302350
4810	NHS	HP:0001417	X-linked inheritance	-	OMIM:302200
4810	NHS	HP:0003577	Congenital onset	2/2	OMIM:302350
4810	NHS	HP:0010695	Sutural cataract	-	OMIM:302200
4810	NHS	HP:0002342	Intellectual disability, moderate	0/2	OMIM:302350
4810	NHS	HP:0009803	Short phalanx of finger	-	OMIM:302350
4810	NHS	HP:0000639	Nystagmus	1/2	OMIM:302350
4810	NHS	HP:0000639	Nystagmus	HP:0040281	ORPHA:627
4810	NHS	HP:0010049	Short metacarpal	HP:0040282	ORPHA:627
4810	NHS	HP:0000699	Diastema	-	OMIM:302350
4810	NHS	HP:0000689	Dental malocclusion	2/2	OMIM:302350
4810	NHS	HP:0100018	Nuclear cataract	2/2	OMIM:302350
4810	NHS	HP:0100018	Nuclear cataract	-	OMIM:302200
4810	NHS	HP:0000717	Autism	10/12	OMIM:302350
4810	NHS	HP:0000708	Atypical behavior	HP:0040283	ORPHA:627
4810	NHS	HP:0040080	Anteverted ears	2/2	OMIM:302350
4810	NHS	HP:0008031	Posterior Y-sutural cataract	-	OMIM:302350
4810	NHS	HP:0000275	Narrow face	2/2	OMIM:302350
4810	NHS	HP:0000276	Long face	-	OMIM:302350
4810	NHS	HP:0000276	Long face	HP:0040281	ORPHA:627
4810	NHS	HP:0001500	Broad finger	-	OMIM:302350
4810	NHS	HP:0011092	Mulberry molar	3/3	OMIM:302350
4810	NHS	HP:0011069	Supernumerary tooth	HP:0040282	ORPHA:627
4810	NHS	HP:0000303	Mandibular prognathia	HP:0040281	ORPHA:627
4810	NHS	HP:0000400	Macrotia	-	OMIM:302350
4810	NHS	HP:0000486	Strabismus	HP:0040282	ORPHA:627
4810	NHS	HP:0000482	Microcornea	-	OMIM:302350
4810	NHS	HP:0000482	Microcornea	HP:0040281	ORPHA:627
4810	NHS	HP:0000448	Prominent nose	1/1	OMIM:302350
4810	NHS	HP:0000448	Prominent nose	HP:0040281	ORPHA:627
4810	NHS	HP:0000411	Protruding ear	HP:0040282	ORPHA:627
4810	NHS	HP:0000426	Prominent nasal bridge	-	OMIM:302350
4810	NHS	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:627
4810	NHS	HP:0000518	Cataract	HP:0040281	ORPHA:627
4810	NHS	HP:0000519	Developmental cataract	-	OMIM:302350
4810	NHS	HP:0000505	Visual impairment	HP:0040281	ORPHA:627
4810	NHS	HP:0000501	Glaucoma	-	OMIM:302350
4810	NHS	HP:0000501	Glaucoma	HP:0040283	ORPHA:627
4810	NHS	HP:0000572	Visual loss	-	OMIM:302350
4810	NHS	HP:0000572	Visual loss	HP:0040281	ORPHA:627
4810	NHS	HP:0000568	Microphthalmia	-	OMIM:302350
4810	NHS	HP:0000568	Microphthalmia	HP:0040283	ORPHA:627
4810	NHS	HP:0000541	Retinal detachment	HP:0040283	ORPHA:627
4835	NQO2	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
4835	NQO2	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
4835	NQO2	HP:0003002	Breast carcinoma	-	OMIM:114480
4838	NODAL	HP:0002465	Poor speech	HP:0040283	ORPHA:93926
4838	NODAL	HP:0002465	Poor speech	HP:0040282	ORPHA:93924
4838	NODAL	HP:0002465	Poor speech	HP:0040283	ORPHA:93925
4838	NODAL	HP:0002465	Poor speech	HP:0040283	ORPHA:220386
4838	NODAL	HP:0002474	Expressive language delay	HP:0040282	ORPHA:280195
4838	NODAL	HP:0002451	Limb dystonia	HP:0040282	ORPHA:220386
4838	NODAL	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93926
4838	NODAL	HP:0002451	Limb dystonia	HP:0040283	ORPHA:93924
4838	NODAL	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93925
4838	NODAL	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:220386
4838	NODAL	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93926
4838	NODAL	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:93924
4838	NODAL	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93925
4838	NODAL	HP:0009932	Single naris	HP:0040283	ORPHA:220386
4838	NODAL	HP:0009932	Single naris	HP:0040283	ORPHA:93926
4838	NODAL	HP:0009932	Single naris	HP:0040284	ORPHA:93924
4838	NODAL	HP:0009932	Single naris	HP:0040283	ORPHA:93925
4838	NODAL	HP:0009914	Cyclopia	HP:0040283	ORPHA:280200
4838	NODAL	HP:0009914	Cyclopia	HP:0040283	ORPHA:220386
4838	NODAL	HP:0009914	Cyclopia	HP:0040283	ORPHA:93926
4838	NODAL	HP:0009914	Cyclopia	HP:0040284	ORPHA:93924
4838	NODAL	HP:0009914	Cyclopia	HP:0040283	ORPHA:93925
4838	NODAL	HP:0002418	Abnormal midbrain morphology	HP:0040282	ORPHA:280195
4838	NODAL	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:280195
4838	NODAL	HP:0001272	Cerebellar atrophy	1/14	OMIM:270100
4838	NODAL	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280200
4838	NODAL	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93926
4838	NODAL	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93924
4838	NODAL	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93925
4838	NODAL	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220386
4838	NODAL	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:280195
4838	NODAL	HP:0001254	Lethargy	HP:0040282	ORPHA:93926
4838	NODAL	HP:0001254	Lethargy	HP:0040283	ORPHA:93924
4838	NODAL	HP:0001254	Lethargy	HP:0040282	ORPHA:93925
4838	NODAL	HP:0001254	Lethargy	HP:0040282	ORPHA:220386
4838	NODAL	HP:0001250	Seizure	HP:0040282	ORPHA:220386
4838	NODAL	HP:0001250	Seizure	HP:0040283	ORPHA:280200
4838	NODAL	HP:0001250	Seizure	HP:0040282	ORPHA:93926
4838	NODAL	HP:0001250	Seizure	HP:0040283	ORPHA:93924
4838	NODAL	HP:0001250	Seizure	HP:0040282	ORPHA:93925
4838	NODAL	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280195
4838	NODAL	HP:0001249	Intellectual disability	HP:0040282	ORPHA:220386
4838	NODAL	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280200
4838	NODAL	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93926
4838	NODAL	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93924
4838	NODAL	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93925
4838	NODAL	HP:0001257	Spasticity	HP:0040282	ORPHA:93926
4838	NODAL	HP:0001257	Spasticity	HP:0040283	ORPHA:93924
4838	NODAL	HP:0001257	Spasticity	HP:0040282	ORPHA:93925
4838	NODAL	HP:0001257	Spasticity	HP:0040282	ORPHA:220386
4838	NODAL	HP:0002566	Intestinal malrotation	1/14	OMIM:270100
4838	NODAL	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:280200
4838	NODAL	HP:0007375	Abnormal septum pellucidum morphology	HP:0040283	ORPHA:280195
4838	NODAL	HP:0007330	Frontoethmoidal encephalocele	HP:0040283	ORPHA:280195
4838	NODAL	HP:0002540	Inability to walk	HP:0040282	ORPHA:93926
4838	NODAL	HP:0002540	Inability to walk	HP:0040284	ORPHA:93924
4838	NODAL	HP:0002540	Inability to walk	HP:0040282	ORPHA:93925
4838	NODAL	HP:0002540	Inability to walk	HP:0040282	ORPHA:220386
4838	NODAL	HP:0000089	Renal hypoplasia	1/35	OMIM:270100
4838	NODAL	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:280200
4838	NODAL	HP:0000073	Ureteral duplication	1/35	OMIM:270100
4838	NODAL	HP:0000071	Ureteral stenosis	1/35	OMIM:270100
4838	NODAL	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93926
4838	NODAL	HP:0001371	Flexion contracture	HP:0040284	ORPHA:93924
4838	NODAL	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93925
4838	NODAL	HP:0001371	Flexion contracture	HP:0040283	ORPHA:220386
4838	NODAL	HP:0001355	Megalencephaly	HP:0040283	ORPHA:280195
4838	NODAL	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:280200
4838	NODAL	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93926
4838	NODAL	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93924
4838	NODAL	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93925
4838	NODAL	HP:0001328	Specific learning disability	HP:0040282	ORPHA:280195
4838	NODAL	HP:0001328	Specific learning disability	HP:0040282	ORPHA:220386
4838	NODAL	HP:0001344	Absent speech	HP:0040282	ORPHA:93926
4838	NODAL	HP:0001344	Absent speech	HP:0040284	ORPHA:93924
4838	NODAL	HP:0001344	Absent speech	HP:0040282	ORPHA:93925
4838	NODAL	HP:0001344	Absent speech	HP:0040282	ORPHA:220386
4838	NODAL	HP:0000006	Autosomal dominant inheritance	-	OMIM:270100
4838	NODAL	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
4838	NODAL	HP:0002650	Scoliosis	HP:0040283	ORPHA:93926
4838	NODAL	HP:0002650	Scoliosis	HP:0040283	ORPHA:93924
4838	NODAL	HP:0002650	Scoliosis	HP:0040283	ORPHA:93925
4838	NODAL	HP:0002650	Scoliosis	HP:0040283	ORPHA:220386
4838	NODAL	HP:0002650	Scoliosis	HP:0040283	ORPHA:280200
4838	NODAL	HP:0001321	Cerebellar hypoplasia	1/35	OMIM:270100
4838	NODAL	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93926
4838	NODAL	HP:0000193	Bifid uvula	HP:0040283	ORPHA:93924
4838	NODAL	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93925
4838	NODAL	HP:0000193	Bifid uvula	HP:0040282	ORPHA:220386
4838	NODAL	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:220386
4838	NODAL	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93926
4838	NODAL	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93924
4838	NODAL	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93925
4838	NODAL	HP:0000175	Cleft palate	HP:0040283	ORPHA:280200
4838	NODAL	HP:0000175	Cleft palate	HP:0040282	ORPHA:93926
4838	NODAL	HP:0000175	Cleft palate	HP:0040282	ORPHA:93924
4838	NODAL	HP:0000175	Cleft palate	HP:0040282	ORPHA:93925
4838	NODAL	HP:0000175	Cleft palate	HP:0040282	ORPHA:220386
4838	NODAL	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:280200
4838	NODAL	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:220386
4838	NODAL	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93926
4838	NODAL	HP:0006315	Solitary median maxillary central incisor	HP:0040284	ORPHA:93924
4838	NODAL	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93925
4838	NODAL	HP:0008947	Floppy infant	HP:0040282	ORPHA:93926
4838	NODAL	HP:0008947	Floppy infant	HP:0040283	ORPHA:93924
4838	NODAL	HP:0008947	Floppy infant	HP:0040282	ORPHA:93925
4838	NODAL	HP:0008947	Floppy infant	HP:0040282	ORPHA:220386
4838	NODAL	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93926
4838	NODAL	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93924
4838	NODAL	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93925
4838	NODAL	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:220386
4838	NODAL	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:280195
4838	NODAL	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:220386
4838	NODAL	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93926
4838	NODAL	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93924
4838	NODAL	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93925
4838	NODAL	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:220386
4838	NODAL	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93926
4838	NODAL	HP:0002793	Abnormal pattern of respiration	HP:0040283	ORPHA:93924
4838	NODAL	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93925
4838	NODAL	HP:0000104	Renal agenesis	HP:0040283	ORPHA:280200
4838	NODAL	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93926
4838	NODAL	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93924
4838	NODAL	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93925
4838	NODAL	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220386
4838	NODAL	HP:0002019	Constipation	HP:0040282	ORPHA:93926
4838	NODAL	HP:0002019	Constipation	HP:0040282	ORPHA:93924
4838	NODAL	HP:0002019	Constipation	HP:0040282	ORPHA:93925
4838	NODAL	HP:0002019	Constipation	HP:0040282	ORPHA:220386
4838	NODAL	HP:0003363	Abdominal situs inversus	5/14	OMIM:270100
4838	NODAL	HP:0002033	Poor suck	HP:0040281	ORPHA:93926
4838	NODAL	HP:0002033	Poor suck	HP:0040282	ORPHA:93924
4838	NODAL	HP:0002033	Poor suck	HP:0040281	ORPHA:93925
4838	NODAL	HP:0002033	Poor suck	HP:0040281	ORPHA:220386
4838	NODAL	HP:0002015	Dysphagia	HP:0040282	ORPHA:93926
4838	NODAL	HP:0002015	Dysphagia	HP:0040283	ORPHA:93924
4838	NODAL	HP:0002015	Dysphagia	HP:0040282	ORPHA:93925
4838	NODAL	HP:0002015	Dysphagia	HP:0040283	ORPHA:280195
4838	NODAL	HP:0002015	Dysphagia	HP:0040282	ORPHA:220386
4838	NODAL	HP:0002013	Vomiting	HP:0040282	ORPHA:93926
4838	NODAL	HP:0002013	Vomiting	HP:0040283	ORPHA:93924
4838	NODAL	HP:0002013	Vomiting	HP:0040282	ORPHA:93925
4838	NODAL	HP:0002013	Vomiting	HP:0040282	ORPHA:220386
4838	NODAL	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:220386
4838	NODAL	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93926
4838	NODAL	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040283	ORPHA:93924
4838	NODAL	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93925
4838	NODAL	HP:0005968	Temperature instability	HP:0040282	ORPHA:220386
4838	NODAL	HP:0005968	Temperature instability	HP:0040282	ORPHA:93926
4838	NODAL	HP:0005968	Temperature instability	HP:0040283	ORPHA:93924
4838	NODAL	HP:0005968	Temperature instability	HP:0040282	ORPHA:93925
4838	NODAL	HP:0002099	Asthma	HP:0040283	ORPHA:280200
4838	NODAL	HP:0002059	Cerebral atrophy	1/14	OMIM:270100
4838	NODAL	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:220386
4838	NODAL	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93926
4838	NODAL	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93924
4838	NODAL	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93925
4838	NODAL	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280195
4838	NODAL	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:280200
4838	NODAL	HP:0011861	Bilateral trilobed lung	1/14	OMIM:270100
4838	NODAL	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:220386
4838	NODAL	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93926
4838	NODAL	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93924
4838	NODAL	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93925
4838	NODAL	HP:0003577	Congenital onset	14/14	OMIM:270100
4838	NODAL	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93926
4838	NODAL	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:93924
4838	NODAL	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93925
4838	NODAL	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:220386
4838	NODAL	HP:0100710	Impulsivity	HP:0040282	ORPHA:280195
4838	NODAL	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:280200
4838	NODAL	HP:0002247	Duodenal atresia	1/35	OMIM:270100
4838	NODAL	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:220386
4838	NODAL	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93926
4838	NODAL	HP:0010654	Aplasia of the falx cerebri	HP:0040283	ORPHA:93924
4838	NODAL	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93925
4838	NODAL	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93926
4838	NODAL	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93924
4838	NODAL	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93925
4838	NODAL	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:220386
4838	NODAL	HP:0010644	Midnasal stenosis	HP:0040281	ORPHA:280200
4838	NODAL	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93926
4838	NODAL	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93924
4838	NODAL	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93925
4838	NODAL	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:220386
4838	NODAL	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:220386
4838	NODAL	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93926
4838	NODAL	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93924
4838	NODAL	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93925
4838	NODAL	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:220386
4838	NODAL	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93926
4838	NODAL	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:93924
4838	NODAL	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93925
4838	NODAL	HP:0001028	Hemangioma	HP:0040283	ORPHA:280200
4838	NODAL	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:280200
4838	NODAL	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:280200
4838	NODAL	HP:0010773	Partial anomalous pulmonary venous return	1/14	OMIM:270100
4838	NODAL	HP:0004970	Ascending tubular aorta aneurysm	1/14	OMIM:270100
4838	NODAL	HP:0004935	Pulmonary artery atresia	8/14	OMIM:270100
4838	NODAL	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
4838	NODAL	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:220386
4838	NODAL	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93926
4838	NODAL	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93924
4838	NODAL	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93925
4838	NODAL	HP:0000612	Iris coloboma	HP:0040283	ORPHA:280200
4838	NODAL	HP:0000601	Hypotelorism	HP:0040282	ORPHA:280200
4838	NODAL	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93926
4838	NODAL	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93924
4838	NODAL	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93925
4838	NODAL	HP:0000601	Hypotelorism	HP:0040281	ORPHA:220386
4838	NODAL	HP:0012650	Perisylvian polymicrogyria	HP:0040283	ORPHA:280195
4838	NODAL	HP:0004322	Short stature	HP:0040281	ORPHA:220386
4838	NODAL	HP:0004322	Short stature	HP:0040282	ORPHA:280200
4838	NODAL	HP:0004322	Short stature	HP:0040281	ORPHA:93926
4838	NODAL	HP:0004322	Short stature	HP:0040282	ORPHA:93924
4838	NODAL	HP:0004322	Short stature	HP:0040281	ORPHA:93925
4838	NODAL	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:220386
4838	NODAL	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93926
4838	NODAL	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93924
4838	NODAL	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93925
4838	NODAL	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:280200
4838	NODAL	HP:0031913	Rhombencephalosynapsis	HP:0040283	ORPHA:280195
4838	NODAL	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:280195
4838	NODAL	HP:0000737	Irritability	HP:0040282	ORPHA:93926
4838	NODAL	HP:0000737	Irritability	HP:0040282	ORPHA:93924
4838	NODAL	HP:0000737	Irritability	HP:0040282	ORPHA:93925
4838	NODAL	HP:0000737	Irritability	HP:0040282	ORPHA:220386
4838	NODAL	HP:0000739	Anxiety	HP:0040282	ORPHA:93926
4838	NODAL	HP:0000739	Anxiety	HP:0040282	ORPHA:93924
4838	NODAL	HP:0000739	Anxiety	HP:0040282	ORPHA:93925
4838	NODAL	HP:0000739	Anxiety	HP:0040282	ORPHA:220386
4838	NODAL	HP:0000736	Short attention span	HP:0040282	ORPHA:280195
4838	NODAL	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:220386
4838	NODAL	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93926
4838	NODAL	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93924
4838	NODAL	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93925
4838	NODAL	HP:0000741	Apathy	HP:0040282	ORPHA:220386
4838	NODAL	HP:0000741	Apathy	HP:0040282	ORPHA:93926
4838	NODAL	HP:0000741	Apathy	HP:0040283	ORPHA:93924
4838	NODAL	HP:0000741	Apathy	HP:0040282	ORPHA:93925
4838	NODAL	HP:0000716	Depression	HP:0040282	ORPHA:93926
4838	NODAL	HP:0000716	Depression	HP:0040282	ORPHA:93924
4838	NODAL	HP:0000716	Depression	HP:0040282	ORPHA:93925
4838	NODAL	HP:0000716	Depression	HP:0040282	ORPHA:220386
4838	NODAL	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93926
4838	NODAL	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93924
4838	NODAL	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93925
4838	NODAL	HP:0000708	Atypical behavior	HP:0040282	ORPHA:220386
4838	NODAL	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:280195
4838	NODAL	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:220386
4838	NODAL	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93926
4838	NODAL	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93924
4838	NODAL	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93925
4838	NODAL	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:220386
4838	NODAL	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93926
4838	NODAL	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93924
4838	NODAL	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93925
4838	NODAL	HP:0003196	Short nose	HP:0040283	ORPHA:280200
4838	NODAL	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93926
4838	NODAL	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93924
4838	NODAL	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93925
4838	NODAL	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:220386
4838	NODAL	HP:0004467	Preauricular pit	-	OMIM:187500
4838	NODAL	HP:0011536	Right atrial isomerism	1/14	OMIM:270100
4838	NODAL	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:220386
4838	NODAL	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93926
4838	NODAL	HP:0000873	Diabetes insipidus	HP:0040282	ORPHA:93924
4838	NODAL	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93925
4838	NODAL	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:280200
4838	NODAL	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:220386
4838	NODAL	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93926
4838	NODAL	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93924
4838	NODAL	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93925
4838	NODAL	HP:0000863	Central diabetes insipidus	HP:0040282	ORPHA:280195
4838	NODAL	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:280195
4838	NODAL	HP:0012806	Proboscis	HP:0040283	ORPHA:220386
4838	NODAL	HP:0012806	Proboscis	HP:0040283	ORPHA:93926
4838	NODAL	HP:0012806	Proboscis	HP:0040284	ORPHA:93924
4838	NODAL	HP:0012806	Proboscis	HP:0040283	ORPHA:93925
4838	NODAL	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:220386
4838	NODAL	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93926
4838	NODAL	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:93924
4838	NODAL	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93925
4838	NODAL	HP:0000826	Precocious puberty	HP:0040282	ORPHA:280195
4838	NODAL	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:280200
4838	NODAL	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93926
4838	NODAL	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93924
4838	NODAL	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93925
4838	NODAL	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:220386
4838	NODAL	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:220386
4838	NODAL	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93926
4838	NODAL	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93924
4838	NODAL	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93925
4838	NODAL	HP:0011555	Double inlet left ventricle	3/14	OMIM:270100
4838	NODAL	HP:0010305	Absence of the sacrum	2/35	OMIM:270100
4838	NODAL	HP:0045005	Neural tube defect	HP:0040282	ORPHA:220386
4838	NODAL	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93926
4838	NODAL	HP:0045005	Neural tube defect	HP:0040284	ORPHA:93924
4838	NODAL	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93925
4838	NODAL	HP:0011699	Atrial reentry tachycardia	2/14	OMIM:270100
4838	NODAL	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:220386
4838	NODAL	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93926
4838	NODAL	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93924
4838	NODAL	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93925
4838	NODAL	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93926
4838	NODAL	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93924
4838	NODAL	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93925
4838	NODAL	HP:0000256	Macrocephaly	HP:0040283	ORPHA:220386
4838	NODAL	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93926
4838	NODAL	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93924
4838	NODAL	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93925
4838	NODAL	HP:0002827	Hip dislocation	HP:0040283	ORPHA:220386
4838	NODAL	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93926
4838	NODAL	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93924
4838	NODAL	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93925
4838	NODAL	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220386
4838	NODAL	HP:0000252	Microcephaly	HP:0040283	ORPHA:280195
4838	NODAL	HP:0000252	Microcephaly	HP:0040282	ORPHA:220386
4838	NODAL	HP:0000252	Microcephaly	HP:0040282	ORPHA:280200
4838	NODAL	HP:0000252	Microcephaly	HP:0040282	ORPHA:93926
4838	NODAL	HP:0000252	Microcephaly	HP:0040283	ORPHA:93924
4838	NODAL	HP:0000252	Microcephaly	HP:0040282	ORPHA:93925
4838	NODAL	HP:0000218	High palate	HP:0040282	ORPHA:93926
4838	NODAL	HP:0000218	High palate	HP:0040282	ORPHA:93924
4838	NODAL	HP:0000218	High palate	HP:0040282	ORPHA:93925
4838	NODAL	HP:0000218	High palate	HP:0040282	ORPHA:220386
4838	NODAL	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:280195
4838	NODAL	HP:0031348	Dextrotransposition of the great arteries	10/14	OMIM:270100
4838	NODAL	HP:0002871	Central apnea	HP:0040282	ORPHA:220386
4838	NODAL	HP:0002871	Central apnea	HP:0040282	ORPHA:93926
4838	NODAL	HP:0002871	Central apnea	HP:0040283	ORPHA:93924
4838	NODAL	HP:0002871	Central apnea	HP:0040282	ORPHA:93925
4838	NODAL	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:280200
4838	NODAL	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93926
4838	NODAL	HP:0001508	Failure to thrive	HP:0040282	ORPHA:93924
4838	NODAL	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93925
4838	NODAL	HP:0001508	Failure to thrive	HP:0040281	ORPHA:220386
4838	NODAL	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:280200
4838	NODAL	HP:0001511	Intrauterine growth retardation	-	OMIM:270100
4838	NODAL	HP:0001510	Growth delay	HP:0040281	ORPHA:93926
4838	NODAL	HP:0001510	Growth delay	HP:0040282	ORPHA:93924
4838	NODAL	HP:0001510	Growth delay	HP:0040281	ORPHA:93925
4838	NODAL	HP:0001510	Growth delay	HP:0040281	ORPHA:220386
4838	NODAL	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:220386
4838	NODAL	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93926
4838	NODAL	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93924
4838	NODAL	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93925
4838	NODAL	HP:0005160	Total anomalous pulmonary venous return	3/14	OMIM:270100
4838	NODAL	HP:0000337	Broad forehead	-	OMIM:187500
4838	NODAL	HP:0001680	Coarctation of aorta	1/14	OMIM:270100
4838	NODAL	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:280195
4838	NODAL	HP:0001651	Dextrocardia	5/14	OMIM:270100
4838	NODAL	HP:0001643	Patent ductus arteriosus	4/14	OMIM:270100
4838	NODAL	HP:0000322	Short philtrum	HP:0040282	ORPHA:280200
4838	NODAL	HP:0001629	Ventricular septal defect	5/14	OMIM:270100
4838	NODAL	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93926
4838	NODAL	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93924
4838	NODAL	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93925
4838	NODAL	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:220386
4838	NODAL	HP:0001622	Premature birth	HP:0040282	ORPHA:280200
4838	NODAL	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:280200
4838	NODAL	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
4838	NODAL	HP:0001631	Atrial septal defect	9/14	OMIM:270100
4838	NODAL	HP:0006695	Atrioventricular canal defect	2/14	OMIM:270100
4838	NODAL	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93926
4838	NODAL	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93924
4838	NODAL	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93925
4838	NODAL	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:220386
4838	NODAL	HP:0001719	Double outlet right ventricle	3/14	OMIM:270100
4838	NODAL	HP:0000486	Strabismus	HP:0040283	ORPHA:280200
4838	NODAL	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93926
4838	NODAL	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:93924
4838	NODAL	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93925
4838	NODAL	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:220386
4838	NODAL	HP:0000463	Anteverted nares	HP:0040283	ORPHA:280200
4838	NODAL	HP:0031565	Abdominal situs ambiguus	17/35	OMIM:270100
4838	NODAL	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93926
4838	NODAL	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93924
4838	NODAL	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93925
4838	NODAL	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:220386
4838	NODAL	HP:0000453	Choanal atresia	HP:0040281	ORPHA:280200
4838	NODAL	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:280200
4838	NODAL	HP:0001750	Single ventricle	7/14	OMIM:270100
4838	NODAL	HP:0001746	Asplenia	4/14	OMIM:270100
4838	NODAL	HP:0000520	Proptosis	-	OMIM:187500
4841	NONO	HP:0002465	Poor speech	HP:0040283	ORPHA:466791
4841	NONO	HP:0100962	Excessive shyness	HP:0040282	ORPHA:466791
4841	NONO	HP:0002421	Poor head control	HP:0040282	ORPHA:466791
4841	NONO	HP:0001290	Generalized hypotonia	-	OMIM:300967
4841	NONO	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:466791
4841	NONO	HP:0001270	Motor delay	-	OMIM:300967
4841	NONO	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:466791
4841	NONO	HP:0001250	Seizure	HP:0040283	ORPHA:466791
4841	NONO	HP:0001250	Seizure	1/3	OMIM:300967
4841	NONO	HP:0001252	Hypotonia	1/1	OMIM:300967
4841	NONO	HP:0001251	Ataxia	1/1	OMIM:300967
4841	NONO	HP:0001251	Ataxia	HP:0040283	ORPHA:466791
4841	NONO	HP:0001249	Intellectual disability	11/11	OMIM:300967
4841	NONO	HP:0001263	Global developmental delay	11/11	OMIM:300967
4841	NONO	HP:0002558	Supernumerary nipple	HP:0040283	ORPHA:466791
4841	NONO	HP:0007449	Confetti-like hypopigmented macules	HP:0040283	ORPHA:466791
4841	NONO	HP:0008689	Bilateral cryptorchidism	HP:0040283	ORPHA:466791
4841	NONO	HP:0001382	Joint hypermobility	-	OMIM:300967
4841	NONO	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:466791
4841	NONO	HP:0002684	Thickened calvaria	1/1	OMIM:300967
4841	NONO	HP:0002684	Thickened calvaria	HP:0040283	ORPHA:466791
4841	NONO	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:466791
4841	NONO	HP:0000028	Cryptorchidism	1/3	OMIM:300967
4841	NONO	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:466791
4841	NONO	HP:0001337	Tremor	1/1	OMIM:300967
4841	NONO	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
4841	NONO	HP:0002650	Scoliosis	2/3	OMIM:300967
4841	NONO	HP:0001321	Cerebellar hypoplasia	1/3	OMIM:300967
4841	NONO	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:466791
4841	NONO	HP:0001319	Neonatal hypotonia	2/3	OMIM:300967
4841	NONO	HP:0000194	Open mouth	3/3	OMIM:300967
4841	NONO	HP:0000194	Open mouth	HP:0040282	ORPHA:466791
4841	NONO	HP:0000160	Narrow mouth	2/3	OMIM:300967
4841	NONO	HP:0000154	Wide mouth	1/1	OMIM:300967
4841	NONO	HP:0000154	Wide mouth	HP:0040283	ORPHA:466791
4841	NONO	HP:0008936	Axial hypotonia	1/1	OMIM:300967
4841	NONO	HP:0002705	High, narrow palate	3/3	OMIM:300967
4841	NONO	HP:0002705	High, narrow palate	HP:0040282	ORPHA:466791
4841	NONO	HP:0002751	Kyphoscoliosis	1/1	OMIM:300967
4841	NONO	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:466791
4841	NONO	HP:0001419	X-linked recessive inheritance	-	OMIM:300967
4841	NONO	HP:0004684	Talipes valgus	HP:0040283	ORPHA:466791
4841	NONO	HP:0002020	Gastroesophageal reflux	1/3	OMIM:300967
4841	NONO	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:466791
4841	NONO	HP:0002033	Poor suck	HP:0040282	ORPHA:466791
4841	NONO	HP:0002007	Frontal bossing	2/3	OMIM:300967
4841	NONO	HP:0002007	Frontal bossing	HP:0040283	ORPHA:466791
4841	NONO	HP:0011819	Submucous cleft soft palate	1/3	OMIM:300967
4841	NONO	HP:0002080	Intention tremor	HP:0040283	ORPHA:466791
4841	NONO	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:466791
4841	NONO	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:466791
4841	NONO	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:466791
4841	NONO	HP:0100710	Impulsivity	1/1	OMIM:300967
4841	NONO	HP:0009703	Synostosis involving the 1st metacarpal	HP:0040282	ORPHA:466791
4841	NONO	HP:0032009	Infantile constant exotropia	HP:0040283	ORPHA:466791
4841	NONO	HP:0007024	Pseudobulbar paralysis	HP:0040283	ORPHA:466791
4841	NONO	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:466791
4841	NONO	HP:0010627	Anterior pituitary hypoplasia	HP:0040283	ORPHA:466791
4841	NONO	HP:0009640	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	3/3	OMIM:300967
4841	NONO	HP:0007099	Chiari type I malformation	HP:0040283	ORPHA:466791
4841	NONO	HP:0007083	Hyperactive patellar reflex	HP:0040283	ORPHA:466791
4841	NONO	HP:0007074	Thick corpus callosum	2/3	OMIM:300967
4841	NONO	HP:0002307	Drooling	3/3	OMIM:300967
4841	NONO	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
4841	NONO	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:466791
4841	NONO	HP:0012683	Pineal cyst	1/1	OMIM:300967
4841	NONO	HP:0011342	Mild global developmental delay	-	OMIM:300967
4841	NONO	HP:0000678	Dental crowding	3/3	OMIM:300967
4841	NONO	HP:0000678	Dental crowding	HP:0040282	ORPHA:466791
4841	NONO	HP:0000687	Widely spaced teeth	1/3	OMIM:300967
4841	NONO	HP:0000687	Widely spaced teeth	HP:0040283	ORPHA:466791
4841	NONO	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:466791
4841	NONO	HP:0006989	Dysplastic corpus callosum	HP:0040282	ORPHA:466791
4841	NONO	HP:0006989	Dysplastic corpus callosum	2/4	OMIM:300967
4841	NONO	HP:0030682	Left ventricular noncompaction	-	OMIM:300967
4841	NONO	HP:0031936	Delayed ability to walk	4/4	OMIM:300967
4841	NONO	HP:0000739	Anxiety	HP:0040282	ORPHA:466791
4841	NONO	HP:0000750	Delayed speech and language development	3/3	OMIM:300967
4841	NONO	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:466791
4841	NONO	HP:0000718	Aggressive behavior	-	OMIM:300967
4841	NONO	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:466791
4841	NONO	HP:0000717	Autism	1/1	OMIM:300967
4841	NONO	HP:0000717	Autism	HP:0040283	ORPHA:466791
4841	NONO	HP:0004411	Deviated nasal septum	2/3	OMIM:300967
4841	NONO	HP:0004482	Relative macrocephaly	2/3	OMIM:300967
4841	NONO	HP:0004482	Relative macrocephaly	HP:0040281	ORPHA:466791
4841	NONO	HP:0004467	Preauricular pit	-	OMIM:187500
4841	NONO	HP:0000823	Delayed puberty	2/3	OMIM:300967
4841	NONO	HP:0000823	Delayed puberty	HP:0040283	ORPHA:466791
4841	NONO	HP:0030872	Abnormal cardiac ventricular function	HP:0040283	ORPHA:466791
4841	NONO	HP:0010316	Ebstein anomaly of the tricuspid valve	HP:0040283	ORPHA:466791
4841	NONO	HP:0040194	Increased head circumference	-	OMIM:300967
4841	NONO	HP:0011664	Left ventricular noncompaction cardiomyopathy	1/1	OMIM:300967
4841	NONO	HP:0000286	Epicanthus	HP:0040283	ORPHA:466791
4841	NONO	HP:0000256	Macrocephaly	1/1	OMIM:300967
4841	NONO	HP:0000276	Long face	4/4	OMIM:300967
4841	NONO	HP:0000276	Long face	HP:0040282	ORPHA:466791
4841	NONO	HP:0000272	Malar flattening	3/3	OMIM:300967
4841	NONO	HP:0000272	Malar flattening	HP:0040282	ORPHA:466791
4841	NONO	HP:0002808	Kyphosis	1/3	OMIM:300967
4841	NONO	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:466791
4841	NONO	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:466791
4841	NONO	HP:0001533	Slender build	HP:0040282	ORPHA:466791
4841	NONO	HP:0001533	Slender build	3/3	OMIM:300967
4841	NONO	HP:0001508	Failure to thrive	HP:0040283	ORPHA:466791
4841	NONO	HP:0011098	Speech apraxia	HP:0040283	ORPHA:466791
4841	NONO	HP:0011098	Speech apraxia	1/1	OMIM:300967
4841	NONO	HP:0001611	Hypernasal speech	3/3	OMIM:300967
4841	NONO	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:466791
4841	NONO	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:466791
4841	NONO	HP:0000337	Broad forehead	-	OMIM:187500
4841	NONO	HP:0001667	Right ventricular hypertrophy	HP:0040283	ORPHA:466791
4841	NONO	HP:0001667	Right ventricular hypertrophy	1/3	OMIM:300967
4841	NONO	HP:0000316	Hypertelorism	HP:0040283	ORPHA:466791
4841	NONO	HP:0001643	Patent ductus arteriosus	2/3	OMIM:300967
4841	NONO	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:466791
4841	NONO	HP:0000322	Short philtrum	1/1	OMIM:300967
4841	NONO	HP:0000322	Short philtrum	HP:0040283	ORPHA:466791
4841	NONO	HP:0000325	Triangular face	HP:0040283	ORPHA:466791
4841	NONO	HP:0001655	Patent foramen ovale	1/3	OMIM:300967
4841	NONO	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:466791
4841	NONO	HP:0001629	Ventricular septal defect	-	OMIM:300967
4841	NONO	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:466791
4841	NONO	HP:0001640	Cardiomegaly	1/1	OMIM:300967
4841	NONO	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
4841	NONO	HP:0001631	Atrial septal defect	2/2	OMIM:300967
4841	NONO	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:466791
4841	NONO	HP:0032988	Persistent head lag	1/1	OMIM:300967
4841	NONO	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:466791
4841	NONO	HP:0001711	Abnormal left ventricle morphology	HP:0040282	ORPHA:466791
4841	NONO	HP:0000486	Strabismus	2/3	OMIM:300967
4841	NONO	HP:0000486	Strabismus	HP:0040282	ORPHA:466791
4841	NONO	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:466791
4841	NONO	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:466791
4841	NONO	HP:0030223	Perseverative thought	1/1	OMIM:300967
4841	NONO	HP:0001763	Pes planus	3/3	OMIM:300967
4841	NONO	HP:0001763	Pes planus	HP:0040282	ORPHA:466791
4841	NONO	HP:0000448	Prominent nose	1/1	OMIM:300967
4841	NONO	HP:0000448	Prominent nose	HP:0040282	ORPHA:466791
4841	NONO	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:466791
4841	NONO	HP:0000446	Narrow nasal bridge	3/3	OMIM:300967
4841	NONO	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:466791
4841	NONO	HP:0000520	Proptosis	-	OMIM:187500
4841	NONO	HP:0001822	Hallux valgus	1/1	OMIM:300967
4841	NONO	HP:0001822	Hallux valgus	HP:0040283	ORPHA:466791
4841	NONO	HP:0000582	Upslanted palpebral fissure	3/3	OMIM:300967
4841	NONO	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:466791
4841	NONO	HP:0000545	Myopia	2/3	OMIM:300967
4841	NONO	HP:0000545	Myopia	HP:0040282	ORPHA:466791
4842	NOS1	HP:0031085	Decreased circulating prealbumin concentration	HP:0040283	ORPHA:930
4842	NOS1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:930
4842	NOS1	HP:0002015	Dysphagia	HP:0040281	ORPHA:930
4842	NOS1	HP:0002100	Recurrent aspiration pneumonia	HP:0040283	ORPHA:930
4842	NOS1	HP:0100749	Chest pain	HP:0040282	ORPHA:930
4842	NOS1	HP:0004395	Malnutrition	HP:0040283	ORPHA:930
4842	NOS1	HP:0012735	Cough	HP:0040282	ORPHA:930
4842	NOS1	HP:0030828	Wheezing	HP:0040283	ORPHA:930
4842	NOS1	HP:0012387	Bronchitis	HP:0040282	ORPHA:930
4842	NOS1	HP:0001824	Weight loss	HP:0040282	ORPHA:930
4846	NOS3	HP:0002423	Long-tract sign	-	OMIM:104300
4846	NOS3	HP:0001297	Stroke	-	OMIM:601367
4846	NOS3	HP:0001250	Seizure	-	OMIM:189800
4846	NOS3	HP:0002511	Alzheimer disease	-	OMIM:104300
4846	NOS3	HP:0000093	Proteinuria	-	OMIM:189800
4846	NOS3	HP:0000006	Autosomal dominant inheritance	-	OMIM:104300
4846	NOS3	HP:0000006	Autosomal dominant inheritance	-	OMIM:189800
4846	NOS3	HP:0001300	Parkinsonism	-	OMIM:104300
4846	NOS3	HP:0410054	Decreased circulating GABA concentration	-	OMIM:104300
4846	NOS3	HP:0001426	Non-Mendelian inheritance	-	OMIM:601367
4846	NOS3	HP:0001426	Non-Mendelian inheritance	-	OMIM:145500
4846	NOS3	HP:0002185	Neurofibrillary tangles	-	OMIM:104300
4846	NOS3	HP:0003581	Adult onset	-	OMIM:601367
4846	NOS3	HP:0003581	Adult onset	-	OMIM:104300
4846	NOS3	HP:0100601	Eclampsia	-	OMIM:189800
4846	NOS3	HP:0100602	Preeclampsia	-	OMIM:189800
4846	NOS3	HP:0004972	Elevated mean arterial pressure	-	OMIM:145500
4846	NOS3	HP:0000726	Dementia	-	OMIM:104300
4846	NOS3	HP:0004421	Elevated systolic blood pressure	-	OMIM:145500
4846	NOS3	HP:0000822	Hypertension	-	OMIM:189800
4846	NOS3	HP:0000969	Edema	-	OMIM:189800
4846	NOS3	HP:0008071	Maternal hypertension	-	OMIM:189800
4846	NOS3	HP:0005117	Elevated diastolic blood pressure	-	OMIM:145500
4846	NOS3	HP:0001511	Intrauterine growth retardation	-	OMIM:189800
4846	NOS3	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:189800
4846	NOS3	HP:0001873	Thrombocytopenia	-	OMIM:189800
4848	CNOT2	HP:0001290	Generalized hypotonia	4/4	OMIM:618608
4848	CNOT2	HP:0001270	Motor delay	-	OMIM:618608
4848	CNOT2	HP:0008872	Feeding difficulties in infancy	4/4	OMIM:618608
4848	CNOT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618608
4848	CNOT2	HP:0002650	Scoliosis	1/4	OMIM:618608
4848	CNOT2	HP:0004691	2-3 toe syndactyly	1/4	OMIM:618608
4848	CNOT2	HP:0001007	Hirsutism	2/4	OMIM:618608
4848	CNOT2	HP:0004209	Clinodactyly of the 5th finger	1/4	OMIM:618608
4848	CNOT2	HP:0000692	Tooth malposition	1/4	OMIM:618608
4848	CNOT2	HP:0000750	Delayed speech and language development	4/4	OMIM:618608
4848	CNOT2	HP:0009237	Short 5th finger	2/4	OMIM:618608
4848	CNOT2	HP:0000219	Thin upper lip vermilion	3/3	OMIM:618608
4848	CNOT2	HP:0001611	Hypernasal speech	3/4	OMIM:618608
4848	CNOT2	HP:0000365	Hearing impairment	1/4	OMIM:618608
4848	CNOT2	HP:0000369	Low-set ears	4/4	OMIM:618608
4848	CNOT2	HP:0000347	Micrognathia	4/4	OMIM:618608
4848	CNOT2	HP:0000463	Anteverted nares	3/3	OMIM:618608
4848	CNOT2	HP:0000527	Long eyelashes	2/2	OMIM:618608
4848	CNOT2	HP:0000582	Upslanted palpebral fissure	3/3	OMIM:618608
4848	CNOT2	HP:0011228	Horizontal eyebrow	1/3	OMIM:618608
4848	CNOT2	HP:0000574	Thick eyebrow	2/3	OMIM:618608
4849	CNOT3	HP:0001182	Tapered finger	3/16	OMIM:618672
4849	CNOT3	HP:0010862	Delayed fine motor development	-	OMIM:618672
4849	CNOT3	HP:0001252	Hypotonia	10/16	OMIM:618672
4849	CNOT3	HP:0001249	Intellectual disability	-	OMIM:618672
4849	CNOT3	HP:0001263	Global developmental delay	-	OMIM:618672
4849	CNOT3	HP:0001385	Hip dysplasia	1/16	OMIM:618672
4849	CNOT3	HP:0001357	Plagiocephaly	2/16	OMIM:618672
4849	CNOT3	HP:0008872	Feeding difficulties in infancy	1/16	OMIM:618672
4849	CNOT3	HP:0000006	Autosomal dominant inheritance	-	OMIM:618672
4849	CNOT3	HP:0002714	Downturned corners of mouth	1/16	OMIM:618672
4849	CNOT3	HP:0002079	Hypoplasia of the corpus callosum	2/12	OMIM:618672
4849	CNOT3	HP:0002188	Delayed CNS myelination	1/12	OMIM:618672
4849	CNOT3	HP:0002194	Delayed gross motor development	-	OMIM:618672
4849	CNOT3	HP:0002162	Low posterior hairline	1/16	OMIM:618672
4849	CNOT3	HP:0003593	Infantile onset	-	OMIM:618672
4849	CNOT3	HP:0002280	Enlarged cisterna magna	1/12	OMIM:618672
4849	CNOT3	HP:0007074	Thick corpus callosum	1/12	OMIM:618672
4849	CNOT3	HP:0200055	Small hand	2/16	OMIM:618672
4849	CNOT3	HP:0004209	Clinodactyly of the 5th finger	2/16	OMIM:618672
4849	CNOT3	HP:0000639	Nystagmus	1/16	OMIM:618672
4849	CNOT3	HP:0000648	Optic atrophy	1/16	OMIM:618672
4849	CNOT3	HP:0000601	Hypotelorism	2/16	OMIM:618672
4849	CNOT3	HP:0031936	Delayed ability to walk	12/15	OMIM:618672
4849	CNOT3	HP:0000729	Autistic behavior	7/16	OMIM:618672
4849	CNOT3	HP:0000272	Malar flattening	4/16	OMIM:618672
4849	CNOT3	HP:0000268	Dolichocephaly	2/16	OMIM:618672
4849	CNOT3	HP:0000269	Prominent occiput	1/16	OMIM:618672
4849	CNOT3	HP:0000248	Brachycephaly	1/16	OMIM:618672
4849	CNOT3	HP:0000369	Low-set ears	1/16	OMIM:618672
4849	CNOT3	HP:0000316	Hypertelorism	1/16	OMIM:618672
4849	CNOT3	HP:0000322	Short philtrum	4/16	OMIM:618672
4849	CNOT3	HP:0000303	Mandibular prognathia	2/16	OMIM:618672
4849	CNOT3	HP:0000407	Sensorineural hearing impairment	1/16	OMIM:618672
4849	CNOT3	HP:0000405	Conductive hearing impairment	2/16	OMIM:618672
4849	CNOT3	HP:0000486	Strabismus	4/16	OMIM:618672
4849	CNOT3	HP:0000490	Deeply set eye	4/16	OMIM:618672
4849	CNOT3	HP:0000463	Anteverted nares	1/16	OMIM:618672
4849	CNOT3	HP:0000457	Depressed nasal ridge	1/16	OMIM:618672
4849	CNOT3	HP:0001763	Pes planus	1/16	OMIM:618672
4849	CNOT3	HP:0000582	Upslanted palpebral fissure	2/16	OMIM:618672
4849	CNOT3	HP:0011220	Prominent forehead	5/16	OMIM:618672
4849	CNOT3	HP:0000540	Hypermetropia	1/16	OMIM:618672
4851	NOTCH1	HP:0001171	Split hand	HP:0040282	ORPHA:974
4851	NOTCH1	HP:0001156	Brachydactyly	2/6	OMIM:616028
4851	NOTCH1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:974
4851	NOTCH1	HP:0025107	Cutis marmorata telangiectatica congenita	4/6	OMIM:616028
4851	NOTCH1	HP:0001159	Syndactyly	2/6	OMIM:616028
4851	NOTCH1	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:974
4851	NOTCH1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4851	NOTCH1	HP:0001293	Cranial nerve compression	-	OMIM:131300
4851	NOTCH1	HP:0001276	Hypertonia	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0001269	Hemiparesis	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0001250	Seizure	1/6	OMIM:616028
4851	NOTCH1	HP:0001250	Seizure	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0001252	Hypotonia	2/7	OMIM:615777
4851	NOTCH1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0001249	Intellectual disability	5/7	OMIM:615777
4851	NOTCH1	HP:0001263	Global developmental delay	-	OMIM:615777
4851	NOTCH1	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:974
4851	NOTCH1	HP:0002515	Waddling gait	54/102	OMIM:131300
4851	NOTCH1	HP:0001394	Cirrhosis	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0001382	Joint hypermobility	-	OMIM:615777
4851	NOTCH1	HP:0000023	Inguinal hernia	1/6	OMIM:616028
4851	NOTCH1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4851	NOTCH1	HP:0001362	Calvarial skull defect	HP:0040281	ORPHA:974
4851	NOTCH1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4851	NOTCH1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4851	NOTCH1	HP:0001324	Muscle weakness	40/96	OMIM:131300
4851	NOTCH1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4851	NOTCH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4851	NOTCH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
4851	NOTCH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616028
4851	NOTCH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4851	NOTCH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:109730
4851	NOTCH1	HP:0002650	Scoliosis	12/14	OMIM:131300
4851	NOTCH1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4851	NOTCH1	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4851	NOTCH1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4851	NOTCH1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4851	NOTCH1	HP:0000175	Cleft palate	2/7	OMIM:615777
4851	NOTCH1	HP:0001409	Portal hypertension	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0002084	Encephalocele	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0002092	Pulmonary arterial hypertension	1/6	OMIM:616028
4851	NOTCH1	HP:0002040	Esophageal varix	HP:0040283	OMIM:616028
4851	NOTCH1	HP:0002040	Esophageal varix	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0003388	Easy fatigability	36/76	OMIM:131300
4851	NOTCH1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4851	NOTCH1	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:974
4851	NOTCH1	HP:0002132	Porencephalic cyst	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0003577	Congenital onset	6/6	OMIM:616028
4851	NOTCH1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0010624	Aplastic/hypoplastic toenail	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0003510	Severe short stature	7/7	OMIM:615777
4851	NOTCH1	HP:0001057	Aplasia cutis congenita	5/6	OMIM:616028
4851	NOTCH1	HP:0001057	Aplasia cutis congenita	HP:0040281	ORPHA:974
4851	NOTCH1	HP:0001048	Cavernous hemangioma	-	OMIM:616028
4851	NOTCH1	HP:0002353	EEG abnormality	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0002315	Headache	-	OMIM:131300
4851	NOTCH1	HP:0004976	Knee dislocation	6/7	OMIM:615777
4851	NOTCH1	HP:0009803	Short phalanx of finger	-	OMIM:615777
4851	NOTCH1	HP:0010760	Absent toe	HP:0040281	ORPHA:974
4851	NOTCH1	HP:0009763	Limb pain	63/92	OMIM:131300
4851	NOTCH1	HP:0004962	Thoracic aorta calcification	HP:0040281	ORPHA:402075
4851	NOTCH1	HP:0004935	Pulmonary artery atresia	HP:0040282	ORPHA:974
4851	NOTCH1	HP:0004933	Ascending aortic dissection	HP:0040284	ORPHA:402075
4851	NOTCH1	HP:0003621	Juvenile onset	-	OMIM:131300
4851	NOTCH1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4851	NOTCH1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
4851	NOTCH1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4851	NOTCH1	HP:0001971	Hypersplenism	HP:0040283	OMIM:616028
4851	NOTCH1	HP:6001056	Out-toeing	-	OMIM:131300
4851	NOTCH1	HP:0000651	Diplopia	-	OMIM:131300
4851	NOTCH1	HP:0001956	Truncal obesity	2/7	OMIM:615777
4851	NOTCH1	HP:0001903	Anemia	HP:0040283	OMIM:131300
4851	NOTCH1	HP:0010049	Short metacarpal	-	OMIM:615777
4851	NOTCH1	HP:0000678	Dental crowding	-	OMIM:615777
4851	NOTCH1	HP:0000670	Carious teeth	-	OMIM:131300
4851	NOTCH1	HP:0011304	Broad thumb	2/7	OMIM:615777
4851	NOTCH1	HP:0000668	Hypodontia	-	OMIM:615777
4851	NOTCH1	HP:0000664	Synophrys	-	OMIM:615777
4851	NOTCH1	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0004383	Hypoplastic left heart	HP:0040284	ORPHA:402075
4851	NOTCH1	HP:0004380	Aortic valve calcification	HP:0040281	ORPHA:402075
4851	NOTCH1	HP:0004380	Aortic valve calcification	9/10	OMIM:109730
4851	NOTCH1	HP:0004396	Poor appetite	-	OMIM:131300
4851	NOTCH1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4851	NOTCH1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4851	NOTCH1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4851	NOTCH1	HP:0003026	Short long bone	7/7	OMIM:615777
4851	NOTCH1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4851	NOTCH1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4851	NOTCH1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4851	NOTCH1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4851	NOTCH1	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0000750	Delayed speech and language development	-	OMIM:615777
4851	NOTCH1	HP:0011461	Fetal onset	7/7	OMIM:615777
4851	NOTCH1	HP:0000774	Narrow chest	2/7	OMIM:615777
4851	NOTCH1	HP:0000926	Platyspondyly	1/7	OMIM:615777
4851	NOTCH1	HP:0003180	Flat acetabular roof	-	OMIM:615777
4851	NOTCH1	HP:0004482	Relative macrocephaly	-	OMIM:615777
4851	NOTCH1	HP:0004467	Preauricular pit	-	OMIM:187500
4851	NOTCH1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4851	NOTCH1	HP:0030718	Right atrial enlargement	-	OMIM:616028
4851	NOTCH1	HP:0000822	Hypertension	HP:0040282	ORPHA:402075
4851	NOTCH1	HP:0000823	Delayed puberty	-	OMIM:131300
4851	NOTCH1	HP:0011560	Mitral atresia	1/14	OMIM:109730
4851	NOTCH1	HP:0000894	Short clavicles	-	OMIM:615777
4851	NOTCH1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4851	NOTCH1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4851	NOTCH1	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:974
4851	NOTCH1	HP:0008070	Sparse hair	HP:0040281	ORPHA:974
4851	NOTCH1	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:974
4851	NOTCH1	HP:0000286	Epicanthus	1/7	OMIM:615777
4851	NOTCH1	HP:0000280	Coarse facial features	2/7	OMIM:615777
4851	NOTCH1	HP:0001596	Alopecia	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0005113	Aortic arch aneurysm	HP:0040282	ORPHA:402075
4851	NOTCH1	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:974
4851	NOTCH1	HP:0002814	Abnormality of the lower limb	HP:0040281	ORPHA:974
4851	NOTCH1	HP:0002827	Hip dislocation	3/7	OMIM:615777
4851	NOTCH1	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:974
4851	NOTCH1	HP:0000252	Microcephaly	-	OMIM:615777
4851	NOTCH1	HP:0002857	Genu valgum	-	OMIM:131300
4851	NOTCH1	HP:0001541	Ascites	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0001537	Umbilical hernia	1/6	OMIM:616028
4851	NOTCH1	HP:0001533	Slender build	-	OMIM:131300
4851	NOTCH1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:974
4851	NOTCH1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4851	NOTCH1	HP:0007807	Optic nerve compression	-	OMIM:131300
4851	NOTCH1	HP:0012368	Flat face	7/7	OMIM:615777
4851	NOTCH1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4851	NOTCH1	HP:0000365	Hearing impairment	10/67	OMIM:131300
4851	NOTCH1	HP:0000343	Long philtrum	1/7	OMIM:615777
4851	NOTCH1	HP:0011001	Increased bone mineral density	-	OMIM:131300
4851	NOTCH1	HP:0000337	Broad forehead	-	OMIM:187500
4851	NOTCH1	HP:0001667	Right ventricular hypertrophy	-	OMIM:616028
4851	NOTCH1	HP:0001680	Coarctation of aorta	HP:0040281	ORPHA:402075
4851	NOTCH1	HP:0001650	Aortic valve stenosis	HP:0040281	ORPHA:402075
4851	NOTCH1	HP:0001650	Aortic valve stenosis	7/14	OMIM:109730
4851	NOTCH1	HP:0001647	Bicuspid aortic valve	HP:0040280	ORPHA:402075
4851	NOTCH1	HP:0001647	Bicuspid aortic valve	9/13	OMIM:109730
4851	NOTCH1	HP:0000311	Round face	2/7	OMIM:615777
4851	NOTCH1	HP:0001642	Pulmonic stenosis	1/6	OMIM:616028
4851	NOTCH1	HP:0030148	Heart murmur	HP:0040281	ORPHA:402075
4851	NOTCH1	HP:0001659	Aortic regurgitation	HP:0040281	ORPHA:402075
4851	NOTCH1	HP:0001655	Patent foramen ovale	-	OMIM:616028
4851	NOTCH1	HP:0001629	Ventricular septal defect	2/14	OMIM:109730
4851	NOTCH1	HP:0001622	Premature birth	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:974
4851	NOTCH1	HP:0002970	Genu varum	-	OMIM:615777
4851	NOTCH1	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:974
4851	NOTCH1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
4851	NOTCH1	HP:0001636	Tetralogy of Fallot	1/14	OMIM:109730
4851	NOTCH1	HP:0000303	Mandibular prognathia	-	OMIM:131300
4851	NOTCH1	HP:0004050	Absent hand	HP:0040281	ORPHA:974
4851	NOTCH1	HP:0001719	Double outlet right ventricle	1/14	OMIM:109730
4851	NOTCH1	HP:0001718	Mitral stenosis	1/14	OMIM:109730
4851	NOTCH1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4851	NOTCH1	HP:0000486	Strabismus	HP:0040282	ORPHA:974
4851	NOTCH1	HP:0030242	Portal vein thrombosis	1/6	OMIM:616028
4851	NOTCH1	HP:0000470	Short neck	1/7	OMIM:615777
4851	NOTCH1	HP:0011103	Abnormal left ventricular outflow tract morphology	HP:0040284	ORPHA:402075
4851	NOTCH1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4851	NOTCH1	HP:0001763	Pes planus	1/7	OMIM:615777
4851	NOTCH1	HP:0001744	Splenomegaly	HP:0040283	OMIM:616028
4851	NOTCH1	HP:0000518	Cataract	HP:0040282	ORPHA:974
4851	NOTCH1	HP:0001840	Metatarsus adductus	-	OMIM:615777
4851	NOTCH1	HP:0000520	Proptosis	2/4	OMIM:131300
4851	NOTCH1	HP:0000520	Proptosis	-	OMIM:187500
4851	NOTCH1	HP:0000520	Proptosis	7/7	OMIM:615777
4851	NOTCH1	HP:0001804	Hypoplastic fingernail	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0001800	Hypoplastic toenails	1/6	OMIM:616028
4851	NOTCH1	HP:0001802	Absent toenail	2/6	OMIM:616028
4851	NOTCH1	HP:0001817	Absent fingernail	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0001810	Dystrophic toenail	-	OMIM:616028
4851	NOTCH1	HP:0000592	Blue sclerae	2/7	OMIM:615777
4851	NOTCH1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:974
4851	NOTCH1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4851	NOTCH1	HP:0001883	Talipes	HP:0040282	ORPHA:974
4851	NOTCH1	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:974
4851	NOTCH1	HP:0012514	Lower limb pain	4/4	OMIM:131300
4851	NOTCH1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:974
4853	NOTCH2	HP:0001156	Brachydactyly	HP:0040281	ORPHA:955
4853	NOTCH2	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:955
4853	NOTCH2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4853	NOTCH2	HP:0001293	Cranial nerve compression	-	OMIM:131300
4853	NOTCH2	HP:0001252	Hypotonia	2/7	OMIM:615777
4853	NOTCH2	HP:0001249	Intellectual disability	0/9	OMIM:102500
4853	NOTCH2	HP:0001249	Intellectual disability	5/7	OMIM:615777
4853	NOTCH2	HP:0001263	Global developmental delay	0/9	OMIM:102500
4853	NOTCH2	HP:0001263	Global developmental delay	-	OMIM:615777
4853	NOTCH2	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0002566	Intestinal malrotation	HP:0040283	OMIM:102500
4853	NOTCH2	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0002515	Waddling gait	54/102	OMIM:131300
4853	NOTCH2	HP:0000089	Renal hypoplasia	-	OMIM:610205
4853	NOTCH2	HP:0000083	Renal insufficiency	-	OMIM:610205
4853	NOTCH2	HP:0000093	Proteinuria	-	OMIM:610205
4853	NOTCH2	HP:0001396	Cholestasis	-	OMIM:610205
4853	NOTCH2	HP:0001382	Joint hypermobility	5/9	OMIM:102500
4853	NOTCH2	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0001382	Joint hypermobility	-	OMIM:615777
4853	NOTCH2	HP:0000047	Hypospadias	1/5	OMIM:102500
4853	NOTCH2	HP:0000047	Hypospadias	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0000023	Inguinal hernia	1/9	OMIM:102500
4853	NOTCH2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4853	NOTCH2	HP:0002691	Platybasia	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0000028	Cryptorchidism	-	OMIM:102500
4853	NOTCH2	HP:0002688	Absent frontal sinuses	-	OMIM:102500
4853	NOTCH2	HP:0002688	Absent frontal sinuses	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4853	NOTCH2	HP:0006180	Crowded carpal bones	-	OMIM:102500
4853	NOTCH2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4853	NOTCH2	HP:0001324	Muscle weakness	40/96	OMIM:131300
4853	NOTCH2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4853	NOTCH2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4853	NOTCH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:610205
4853	NOTCH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:102500
4853	NOTCH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
4853	NOTCH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4853	NOTCH2	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:955
4853	NOTCH2	HP:0002653	Bone pain	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0002650	Scoliosis	12/14	OMIM:131300
4853	NOTCH2	HP:0002650	Scoliosis	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0002645	Wormian bones	9/9	OMIM:102500
4853	NOTCH2	HP:0002645	Wormian bones	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4853	NOTCH2	HP:0002611	Cholestatic liver disease	-	OMIM:610205
4853	NOTCH2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4853	NOTCH2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4853	NOTCH2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4853	NOTCH2	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0000160	Narrow mouth	9/9	OMIM:102500
4853	NOTCH2	HP:0000160	Narrow mouth	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0000175	Cleft palate	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0000175	Cleft palate	2/7	OMIM:615777
4853	NOTCH2	HP:0002797	Osteolysis	HP:0040281	ORPHA:955
4853	NOTCH2	HP:0000113	Polycystic kidney dysplasia	2/9	OMIM:102500
4853	NOTCH2	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0002756	Pathologic fracture	-	OMIM:102500
4853	NOTCH2	HP:0000107	Renal cyst	-	OMIM:102500
4853	NOTCH2	HP:0000107	Renal cyst	-	OMIM:610205
4853	NOTCH2	HP:0002751	Kyphoscoliosis	-	OMIM:102500
4853	NOTCH2	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0003396	Syringomyelia	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0003388	Easy fatigability	36/76	OMIM:131300
4853	NOTCH2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4853	NOTCH2	HP:0010502	Fibular bowing	1/9	OMIM:102500
4853	NOTCH2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0002230	Generalized hirsutism	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0002208	Coarse hair	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0009748	Large earlobe	-	OMIM:102500
4853	NOTCH2	HP:0100790	Hernia	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0003510	Severe short stature	7/7	OMIM:615777
4853	NOTCH2	HP:0001007	Hirsutism	-	OMIM:102500
4853	NOTCH2	HP:0002315	Headache	-	OMIM:131300
4853	NOTCH2	HP:0002315	Headache	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0004976	Knee dislocation	6/7	OMIM:615777
4853	NOTCH2	HP:0100670	Coarse metaphyseal trabecularization	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0010807	Open bite	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0001072	Thickened skin	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0009803	Short phalanx of finger	-	OMIM:615777
4853	NOTCH2	HP:0200042	Skin ulcer	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0008462	Cervical instability	-	OMIM:102500
4853	NOTCH2	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:102500
4853	NOTCH2	HP:0009763	Limb pain	63/92	OMIM:131300
4853	NOTCH2	HP:0008421	Tall lumbar vertebral bodies	-	OMIM:102500
4853	NOTCH2	HP:0008424	Hypoplastic 5th lumbar vertebrae	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0002308	Chiari malformation	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0004969	Peripheral pulmonary artery stenosis	-	OMIM:610205
4853	NOTCH2	HP:0003621	Juvenile onset	-	OMIM:131300
4853	NOTCH2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4853	NOTCH2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
4853	NOTCH2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4853	NOTCH2	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:955
4853	NOTCH2	HP:6001056	Out-toeing	-	OMIM:131300
4853	NOTCH2	HP:0000651	Diplopia	-	OMIM:131300
4853	NOTCH2	HP:0001947	Renal tubular acidosis	-	OMIM:610205
4853	NOTCH2	HP:0000612	Iris coloboma	1/9	OMIM:102500
4853	NOTCH2	HP:0000612	Iris coloboma	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0000627	Posterior embryotoxon	-	OMIM:610205
4853	NOTCH2	HP:0001956	Truncal obesity	2/7	OMIM:615777
4853	NOTCH2	HP:0001903	Anemia	HP:0040283	OMIM:131300
4853	NOTCH2	HP:0010049	Short metacarpal	-	OMIM:615777
4853	NOTCH2	HP:0000678	Dental crowding	-	OMIM:615777
4853	NOTCH2	HP:0000689	Dental malocclusion	-	OMIM:102500
4853	NOTCH2	HP:0000670	Carious teeth	-	OMIM:131300
4853	NOTCH2	HP:0011305	Partial absence of toe	HP:0040281	ORPHA:955
4853	NOTCH2	HP:0011304	Broad thumb	2/7	OMIM:615777
4853	NOTCH2	HP:0000668	Hypodontia	-	OMIM:615777
4853	NOTCH2	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:955
4853	NOTCH2	HP:0000664	Synophrys	-	OMIM:102500
4853	NOTCH2	HP:0000664	Synophrys	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0000664	Synophrys	-	OMIM:615777
4853	NOTCH2	HP:0004322	Short stature	3/9	OMIM:102500
4853	NOTCH2	HP:0004322	Short stature	HP:0040281	ORPHA:955
4853	NOTCH2	HP:0004331	Decreased skull ossification	HP:0040281	ORPHA:955
4853	NOTCH2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0003083	Dislocated radial head	-	OMIM:102500
4853	NOTCH2	HP:0004396	Poor appetite	-	OMIM:131300
4853	NOTCH2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4853	NOTCH2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4853	NOTCH2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4853	NOTCH2	HP:0003026	Short long bone	7/7	OMIM:615777
4853	NOTCH2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4853	NOTCH2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4853	NOTCH2	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4853	NOTCH2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4853	NOTCH2	HP:0000750	Delayed speech and language development	-	OMIM:615777
4853	NOTCH2	HP:0000704	Periodontitis	HP:0040281	ORPHA:955
4853	NOTCH2	HP:0011461	Fetal onset	7/7	OMIM:615777
4853	NOTCH2	HP:0000774	Narrow chest	2/7	OMIM:615777
4853	NOTCH2	HP:0000790	Hematuria	-	OMIM:610205
4853	NOTCH2	HP:0005758	Basilar impression	5/9	OMIM:102500
4853	NOTCH2	HP:0000929	Abnormal skull morphology	HP:0040281	ORPHA:955
4853	NOTCH2	HP:0000926	Platyspondyly	1/7	OMIM:615777
4853	NOTCH2	HP:0003189	Long nose	-	OMIM:610205
4853	NOTCH2	HP:0003180	Flat acetabular roof	-	OMIM:615777
4853	NOTCH2	HP:0004482	Relative macrocephaly	-	OMIM:615777
4853	NOTCH2	HP:0004467	Preauricular pit	-	OMIM:187500
4853	NOTCH2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4853	NOTCH2	HP:0000822	Hypertension	-	OMIM:610205
4853	NOTCH2	HP:0000823	Delayed puberty	-	OMIM:131300
4853	NOTCH2	HP:0000823	Delayed puberty	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0000894	Short clavicles	-	OMIM:615777
4853	NOTCH2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4853	NOTCH2	HP:0004586	Biconcave vertebral bodies	-	OMIM:102500
4853	NOTCH2	HP:0004586	Biconcave vertebral bodies	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0000958	Dry skin	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4853	NOTCH2	HP:0000939	Osteoporosis	7/9	OMIM:102500
4853	NOTCH2	HP:0000939	Osteoporosis	HP:0040281	ORPHA:955
4853	NOTCH2	HP:0000938	Osteopenia	-	OMIM:102500
4853	NOTCH2	HP:0000938	Osteopenia	HP:0040281	ORPHA:955
4853	NOTCH2	HP:0000286	Epicanthus	-	OMIM:102500
4853	NOTCH2	HP:0000286	Epicanthus	1/7	OMIM:615777
4853	NOTCH2	HP:0000280	Coarse facial features	-	OMIM:102500
4853	NOTCH2	HP:0000280	Coarse facial features	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0000280	Coarse facial features	2/7	OMIM:615777
4853	NOTCH2	HP:0000293	Full cheeks	-	OMIM:102500
4853	NOTCH2	HP:0000293	Full cheeks	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0000294	Low anterior hairline	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0000256	Macrocephaly	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0000277	Abnormal mandible morphology	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0000272	Malar flattening	9/9	OMIM:102500
4853	NOTCH2	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0000269	Prominent occiput	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0002829	Arthralgia	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0002827	Hip dislocation	3/7	OMIM:615777
4853	NOTCH2	HP:0002808	Kyphosis	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0000238	Hydrocephalus	-	OMIM:102500
4853	NOTCH2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0000252	Microcephaly	-	OMIM:615777
4853	NOTCH2	HP:0000218	High palate	-	OMIM:102500
4853	NOTCH2	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0002857	Genu valgum	-	OMIM:131300
4853	NOTCH2	HP:0002857	Genu valgum	-	OMIM:102500
4853	NOTCH2	HP:0001537	Umbilical hernia	1/9	OMIM:102500
4853	NOTCH2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0001533	Slender build	-	OMIM:131300
4853	NOTCH2	HP:0001508	Failure to thrive	-	OMIM:102500
4853	NOTCH2	HP:0001508	Failure to thrive	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4853	NOTCH2	HP:0007807	Optic nerve compression	-	OMIM:131300
4853	NOTCH2	HP:0012368	Flat face	7/7	OMIM:615777
4853	NOTCH2	HP:0001608	Abnormality of the voice	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4853	NOTCH2	HP:0006480	Premature loss of teeth	-	OMIM:102500
4853	NOTCH2	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0000365	Hearing impairment	10/67	OMIM:131300
4853	NOTCH2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0000369	Low-set ears	9/9	OMIM:102500
4853	NOTCH2	HP:0000369	Low-set ears	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0000343	Long philtrum	9/9	OMIM:102500
4853	NOTCH2	HP:0000343	Long philtrum	HP:0040281	ORPHA:955
4853	NOTCH2	HP:0000343	Long philtrum	1/7	OMIM:615777
4853	NOTCH2	HP:0011001	Increased bone mineral density	-	OMIM:131300
4853	NOTCH2	HP:0000337	Broad forehead	-	OMIM:187500
4853	NOTCH2	HP:0000337	Broad forehead	-	OMIM:610205
4853	NOTCH2	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0000347	Micrognathia	5/9	OMIM:102500
4853	NOTCH2	HP:0000347	Micrognathia	HP:0040281	ORPHA:955
4853	NOTCH2	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0000316	Hypertelorism	9/9	OMIM:102500
4853	NOTCH2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:955
4853	NOTCH2	HP:0001643	Patent ductus arteriosus	2/9	OMIM:102500
4853	NOTCH2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0000311	Round face	2/7	OMIM:615777
4853	NOTCH2	HP:0001642	Pulmonic stenosis	-	OMIM:610205
4853	NOTCH2	HP:0000325	Triangular face	-	OMIM:610205
4853	NOTCH2	HP:0001629	Ventricular septal defect	1/9	OMIM:102500
4853	NOTCH2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0002953	Vertebral compression fracture	3/9	OMIM:102500
4853	NOTCH2	HP:0002970	Genu varum	-	OMIM:615777
4853	NOTCH2	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
4853	NOTCH2	HP:0001636	Tetralogy of Fallot	-	OMIM:610205
4853	NOTCH2	HP:0000307	Pointed chin	-	OMIM:610205
4853	NOTCH2	HP:0001631	Atrial septal defect	-	OMIM:610205
4853	NOTCH2	HP:0000303	Mandibular prognathia	-	OMIM:131300
4853	NOTCH2	HP:0000405	Conductive hearing impairment	9/9	OMIM:102500
4853	NOTCH2	HP:0001718	Mitral stenosis	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4853	NOTCH2	HP:0000494	Downslanted palpebral fissures	-	OMIM:102500
4853	NOTCH2	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:955
4853	NOTCH2	HP:0000463	Anteverted nares	-	OMIM:102500
4853	NOTCH2	HP:0000463	Anteverted nares	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0000470	Short neck	-	OMIM:102500
4853	NOTCH2	HP:0000470	Short neck	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0000470	Short neck	1/7	OMIM:615777
4853	NOTCH2	HP:0001799	Short nail	-	OMIM:102500
4853	NOTCH2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4853	NOTCH2	HP:0001763	Pes planus	1/7	OMIM:615777
4853	NOTCH2	HP:0000445	Wide nose	-	OMIM:102500
4853	NOTCH2	HP:0000445	Wide nose	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0001744	Splenomegaly	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0005463	Elongated sella turcica	-	OMIM:102500
4853	NOTCH2	HP:0000518	Cataract	HP:0040283	ORPHA:955
4853	NOTCH2	HP:0001840	Metatarsus adductus	-	OMIM:615777
4853	NOTCH2	HP:0001842	Foot acroosteolysis	8/9	OMIM:102500
4853	NOTCH2	HP:0000527	Long eyelashes	-	OMIM:102500
4853	NOTCH2	HP:0000520	Proptosis	2/4	OMIM:131300
4853	NOTCH2	HP:0000520	Proptosis	-	OMIM:187500
4853	NOTCH2	HP:0000520	Proptosis	7/7	OMIM:615777
4853	NOTCH2	HP:0000506	Telecanthus	-	OMIM:102500
4853	NOTCH2	HP:0000506	Telecanthus	HP:0040282	ORPHA:955
4853	NOTCH2	HP:0001831	Short toe	HP:0040281	ORPHA:955
4853	NOTCH2	HP:0000592	Blue sclerae	2/7	OMIM:615777
4853	NOTCH2	HP:0000574	Thick eyebrow	9/9	OMIM:102500
4853	NOTCH2	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:955
4853	NOTCH2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4853	NOTCH2	HP:0012514	Lower limb pain	4/4	OMIM:131300
4853	NOTCH2	HP:0000545	Myopia	HP:0040283	ORPHA:955
4854	NOTCH3	HP:0002463	Language impairment	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0002435	Meningocele	-	OMIM:130720
4854	NOTCH3	HP:0002435	Meningocele	HP:0040281	ORPHA:2789
4854	NOTCH3	HP:0007236	Recurrent subcortical infarcts	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0007236	Recurrent subcortical infarcts	-	OMIM:125310
4854	NOTCH3	HP:0001298	Encephalopathy	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0001297	Stroke	7/9	OMIM:125310
4854	NOTCH3	HP:0001297	Stroke	HP:0040282	ORPHA:136
4854	NOTCH3	HP:0001270	Motor delay	-	OMIM:130720
4854	NOTCH3	HP:0001269	Hemiparesis	5/9	OMIM:125310
4854	NOTCH3	HP:0001289	Confusion	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0001288	Gait disturbance	-	OMIM:125310
4854	NOTCH3	HP:0001288	Gait disturbance	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:2591
4854	NOTCH3	HP:0001250	Seizure	-	OMIM:125310
4854	NOTCH3	HP:0001250	Seizure	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0001252	Hypotonia	HP:0040283	ORPHA:2789
4854	NOTCH3	HP:0001252	Hypotonia	6/6	OMIM:130720
4854	NOTCH3	HP:0001249	Intellectual disability	1/5	OMIM:130720
4854	NOTCH3	HP:0001260	Dysarthria	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2789
4854	NOTCH3	HP:0001263	Global developmental delay	6/6	OMIM:130720
4854	NOTCH3	HP:0001257	Spasticity	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:2591
4854	NOTCH3	HP:0007400	Irregular hyperpigmentation	HP:0040283	ORPHA:2591
4854	NOTCH3	HP:0010992	Stress urinary incontinence	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0032325	Lacunar stroke	HP:0040281	ORPHA:136
4854	NOTCH3	HP:0032325	Lacunar stroke	7/9	OMIM:125310
4854	NOTCH3	HP:0002500	Abnormal cerebral white matter morphology	HP:0040281	ORPHA:136
4854	NOTCH3	HP:0012062	Bone cyst	HP:0040281	ORPHA:2591
4854	NOTCH3	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:2591
4854	NOTCH3	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:2591
4854	NOTCH3	HP:0001382	Joint hypermobility	6/6	OMIM:130720
4854	NOTCH3	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:2789
4854	NOTCH3	HP:0000023	Inguinal hernia	3/5	OMIM:130720
4854	NOTCH3	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:2789
4854	NOTCH3	HP:0002684	Thickened calvaria	2/4	OMIM:130720
4854	NOTCH3	HP:0000020	Urinary incontinence	3/9	OMIM:125310
4854	NOTCH3	HP:0002694	Sclerosis of skull base	-	OMIM:130720
4854	NOTCH3	HP:0002691	Platybasia	-	OMIM:130720
4854	NOTCH3	HP:0000028	Cryptorchidism	4/6	OMIM:130720
4854	NOTCH3	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2789
4854	NOTCH3	HP:0001342	Cerebral hemorrhage	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0000011	Neurogenic bladder	1/6	OMIM:130720
4854	NOTCH3	HP:0000006	Autosomal dominant inheritance	-	OMIM:615293
4854	NOTCH3	HP:0000006	Autosomal dominant inheritance	-	OMIM:125310
4854	NOTCH3	HP:0000006	Autosomal dominant inheritance	-	OMIM:130720
4854	NOTCH3	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:136
4854	NOTCH3	HP:0002650	Scoliosis	5/6	OMIM:130720
4854	NOTCH3	HP:0002650	Scoliosis	HP:0040282	ORPHA:2789
4854	NOTCH3	HP:0002645	Wormian bones	2/4	OMIM:130720
4854	NOTCH3	HP:0002645	Wormian bones	HP:0040281	ORPHA:2789
4854	NOTCH3	HP:0002619	Varicose veins	-	OMIM:125310
4854	NOTCH3	HP:0001300	Parkinsonism	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0000175	Cleft palate	1/6	OMIM:130720
4854	NOTCH3	HP:0000169	Gingival fibromatosis	HP:0040282	ORPHA:2591
4854	NOTCH3	HP:0002797	Osteolysis	HP:0040283	ORPHA:2591
4854	NOTCH3	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:2591
4854	NOTCH3	HP:0007634	Nonarteritic anterior ischemic optic neuropathy	-	OMIM:125310
4854	NOTCH3	HP:0002705	High, narrow palate	HP:0040281	ORPHA:2789
4854	NOTCH3	HP:0002015	Dysphagia	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0040329	Multifocal hyperintensity of cerebral white matter on MRI	HP:0040281	ORPHA:136
4854	NOTCH3	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:2789
4854	NOTCH3	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:2789
4854	NOTCH3	HP:0100526	Neoplasm of the lung	HP:0040282	ORPHA:2591
4854	NOTCH3	HP:0100545	Arterial stenosis	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:136
4854	NOTCH3	HP:0003396	Syringomyelia	3/6	OMIM:130720
4854	NOTCH3	HP:0003396	Syringomyelia	HP:0040283	ORPHA:2789
4854	NOTCH3	HP:0002076	Migraine	6/9	OMIM:125310
4854	NOTCH3	HP:0002076	Migraine	HP:0040282	ORPHA:136
4854	NOTCH3	HP:0002077	Migraine with aura	HP:0040282	ORPHA:136
4854	NOTCH3	HP:0002144	Tethered cord	1/6	OMIM:130720
4854	NOTCH3	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:2789
4854	NOTCH3	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0010562	Keloids	4/6	OMIM:130720
4854	NOTCH3	HP:0003596	Middle age onset	5/8	OMIM:125310
4854	NOTCH3	HP:0003577	Congenital onset	6/6	OMIM:130720
4854	NOTCH3	HP:0002242	Abnormal intestine morphology	HP:0040282	ORPHA:2591
4854	NOTCH3	HP:0100702	Arachnoid cyst	-	OMIM:130720
4854	NOTCH3	HP:0002208	Coarse hair	6/6	OMIM:130720
4854	NOTCH3	HP:0100775	Dural ectasia	-	OMIM:130720
4854	NOTCH3	HP:0100775	Dural ectasia	HP:0040281	ORPHA:2789
4854	NOTCH3	HP:0007024	Pseudobulbar paralysis	-	OMIM:125310
4854	NOTCH3	HP:0010614	Fibroma	HP:0040281	ORPHA:2591
4854	NOTCH3	HP:0007099	Chiari type I malformation	1/6	OMIM:130720
4854	NOTCH3	HP:0002381	Aphasia	HP:0040284	ORPHA:136
4854	NOTCH3	HP:0002354	Memory impairment	1/1	OMIM:125310
4854	NOTCH3	HP:0002354	Memory impairment	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:136
4854	NOTCH3	HP:0002352	Leukoencephalopathy	1/1	OMIM:125310
4854	NOTCH3	HP:0002333	Motor deterioration	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0003657	Vascular granular osmiophilic material deposition	-	OMIM:125310
4854	NOTCH3	HP:0002326	Transient ischemic attack	HP:0040282	ORPHA:136
4854	NOTCH3	HP:0009830	Peripheral neuropathy	HP:0040283	OMIM:125310
4854	NOTCH3	HP:0200042	Skin ulcer	HP:0040283	ORPHA:2591
4854	NOTCH3	HP:0010794	Impaired visuospatial constructive cognition	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0007123	Subcortical dementia	-	OMIM:125310
4854	NOTCH3	HP:0002301	Hemiplegia	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0002308	Chiari malformation	HP:0040283	ORPHA:2789
4854	NOTCH3	HP:0004942	Aortic aneurysm	2/6	OMIM:130720
4854	NOTCH3	HP:0007185	Loss of consciousness	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0020135	Myofibromatosis	-	OMIM:615293
4854	NOTCH3	HP:0031843	Abnormally slow thought process	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0000649	Abnormality of visual evoked potentials	-	OMIM:125310
4854	NOTCH3	HP:0000612	Iris coloboma	HP:0040283	ORPHA:2789
4854	NOTCH3	HP:0012671	Abulia	1/1	OMIM:125310
4854	NOTCH3	HP:0000678	Dental crowding	-	OMIM:130720
4854	NOTCH3	HP:0000678	Dental crowding	HP:0040282	ORPHA:2789
4854	NOTCH3	HP:0004322	Short stature	2/6	OMIM:130720
4854	NOTCH3	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:2591
4854	NOTCH3	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:2591
4854	NOTCH3	HP:0003011	Abnormality of the musculature	HP:0040281	ORPHA:2591
4854	NOTCH3	HP:0000751	Personality changes	1/1	OMIM:125310
4854	NOTCH3	HP:0000767	Pectus excavatum	2/5	OMIM:130720
4854	NOTCH3	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:2789
4854	NOTCH3	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:2591
4854	NOTCH3	HP:0000739	Anxiety	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0000741	Apathy	HP:0040282	ORPHA:136
4854	NOTCH3	HP:0000716	Depression	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0000712	Emotional lability	HP:0040282	ORPHA:136
4854	NOTCH3	HP:0000726	Dementia	5/10	OMIM:125310
4854	NOTCH3	HP:0000726	Dementia	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0000709	Psychosis	1/1	OMIM:125310
4854	NOTCH3	HP:0000708	Atypical behavior	-	OMIM:125310
4854	NOTCH3	HP:0011462	Young adult onset	3/7	OMIM:125310
4854	NOTCH3	HP:0004452	Abnormality of the middle ear ossicles	-	OMIM:130720
4854	NOTCH3	HP:0004452	Abnormality of the middle ear ossicles	HP:0040282	ORPHA:2789
4854	NOTCH3	HP:0003199	Decreased muscle mass	3/4	OMIM:130720
4854	NOTCH3	HP:0003194	Short nasal bridge	-	OMIM:130720
4854	NOTCH3	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:2591
4854	NOTCH3	HP:0004493	Craniofacial hyperostosis	HP:0040282	ORPHA:2789
4854	NOTCH3	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0000822	Hypertension	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0004586	Biconcave vertebral bodies	-	OMIM:130720
4854	NOTCH3	HP:0000934	Chondrocalcinosis	HP:0040282	ORPHA:2591
4854	NOTCH3	HP:0100242	Sarcoma	HP:0040281	ORPHA:2591
4854	NOTCH3	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2591
4854	NOTCH3	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:2591
4854	NOTCH3	HP:0000286	Epicanthus	HP:0040283	ORPHA:2789
4854	NOTCH3	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:2591
4854	NOTCH3	HP:0000275	Narrow face	HP:0040281	ORPHA:2789
4854	NOTCH3	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:2591
4854	NOTCH3	HP:0000272	Malar flattening	6/6	OMIM:130720
4854	NOTCH3	HP:0000272	Malar flattening	HP:0040281	ORPHA:2789
4854	NOTCH3	HP:0000268	Dolichocephaly	-	OMIM:130720
4854	NOTCH3	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:2789
4854	NOTCH3	HP:0005107	Abnormal sacrum morphology	HP:0040283	ORPHA:2591
4854	NOTCH3	HP:0002808	Kyphosis	-	OMIM:130720
4854	NOTCH3	HP:0002808	Kyphosis	HP:0040283	ORPHA:2789
4854	NOTCH3	HP:0000238	Hydrocephalus	1/6	OMIM:130720
4854	NOTCH3	HP:0000218	High palate	4/5	OMIM:130720
4854	NOTCH3	HP:0000218	High palate	HP:0040283	ORPHA:2789
4854	NOTCH3	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:2591
4854	NOTCH3	HP:0002870	Obstructive sleep apnea	3/4	OMIM:130720
4854	NOTCH3	HP:0001537	Umbilical hernia	1/6	OMIM:130720
4854	NOTCH3	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:2789
4854	NOTCH3	HP:0005214	Intestinal obstruction	HP:0040283	ORPHA:2591
4854	NOTCH3	HP:0002948	Vertebral fusion	2/6	OMIM:130720
4854	NOTCH3	HP:0001611	Hypernasal speech	4/4	OMIM:130720
4854	NOTCH3	HP:0000358	Posteriorly rotated ears	-	OMIM:130720
4854	NOTCH3	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:2789
4854	NOTCH3	HP:0000369	Low-set ears	6/6	OMIM:130720
4854	NOTCH3	HP:0000369	Low-set ears	HP:0040281	ORPHA:2789
4854	NOTCH3	HP:0000343	Long philtrum	-	OMIM:130720
4854	NOTCH3	HP:0000347	Micrognathia	6/6	OMIM:130720
4854	NOTCH3	HP:0000347	Micrognathia	HP:0040281	ORPHA:2789
4854	NOTCH3	HP:0000319	Smooth philtrum	-	OMIM:130720
4854	NOTCH3	HP:0000319	Smooth philtrum	HP:0040282	ORPHA:2789
4854	NOTCH3	HP:0001647	Bicuspid aortic valve	1/6	OMIM:130720
4854	NOTCH3	HP:0000316	Hypertelorism	4/6	OMIM:130720
4854	NOTCH3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2789
4854	NOTCH3	HP:0001643	Patent ductus arteriosus	2/6	OMIM:130720
4854	NOTCH3	HP:0001629	Ventricular septal defect	2/6	OMIM:130720
4854	NOTCH3	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:2789
4854	NOTCH3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2789
4854	NOTCH3	HP:0000405	Conductive hearing impairment	-	OMIM:130720
4854	NOTCH3	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:2789
4854	NOTCH3	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:2591
4854	NOTCH3	HP:0000494	Downslanted palpebral fissures	5/6	OMIM:130720
4854	NOTCH3	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:2789
4854	NOTCH3	HP:0030223	Perseverative thought	1/1	OMIM:125310
4854	NOTCH3	HP:0012444	Brain atrophy	HP:0040283	ORPHA:136
4854	NOTCH3	HP:0000470	Short neck	-	OMIM:130720
4854	NOTCH3	HP:0000470	Short neck	HP:0040282	ORPHA:2789
4854	NOTCH3	HP:0000413	Atresia of the external auditory canal	HP:0040281	ORPHA:2789
4854	NOTCH3	HP:0005487	Prominent metopic ridge	HP:0040282	ORPHA:2789
4854	NOTCH3	HP:0000512	Abnormal electroretinogram	-	OMIM:125310
4854	NOTCH3	HP:0000520	Proptosis	HP:0040283	ORPHA:2789
4854	NOTCH3	HP:0000506	Telecanthus	2/6	OMIM:130720
4854	NOTCH3	HP:0000508	Ptosis	6/6	OMIM:130720
4854	NOTCH3	HP:0000508	Ptosis	HP:0040281	ORPHA:2789
4854	NOTCH3	HP:0000572	Visual loss	HP:0040283	OMIM:125310
4858	NOVA2	HP:0009890	High anterior hairline	1/6	OMIM:618859
4858	NOVA2	HP:0001290	Generalized hypotonia	3/4	OMIM:618859
4858	NOVA2	HP:0001270	Motor delay	6/6	OMIM:618859
4858	NOVA2	HP:0001250	Seizure	2/6	OMIM:618859
4858	NOVA2	HP:0001249	Intellectual disability	6/6	OMIM:618859
4858	NOVA2	HP:0001257	Spasticity	4/6	OMIM:618859
4858	NOVA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618859
4858	NOVA2	HP:0001488	Bilateral ptosis	1/6	OMIM:618859
4858	NOVA2	HP:0002714	Downturned corners of mouth	1/6	OMIM:618859
4858	NOVA2	HP:0002002	Deep philtrum	1/6	OMIM:618859
4858	NOVA2	HP:0002079	Hypoplasia of the corpus callosum	2/6	OMIM:618859
4858	NOVA2	HP:0002120	Cerebral cortical atrophy	1/6	OMIM:618859
4858	NOVA2	HP:0011968	Feeding difficulties	5/6	OMIM:618859
4858	NOVA2	HP:0007099	Chiari type I malformation	1/6	OMIM:618859
4858	NOVA2	HP:0100023	Recurrent hand flapping	-	OMIM:618859
4858	NOVA2	HP:0000750	Delayed speech and language development	6/6	OMIM:618859
4858	NOVA2	HP:0000748	Inappropriate laughter	2/6	OMIM:618859
4858	NOVA2	HP:0000729	Autistic behavior	3/6	OMIM:618859
4858	NOVA2	HP:0000248	Brachycephaly	1/6	OMIM:618859
4858	NOVA2	HP:0000494	Downslanted palpebral fissures	1/6	OMIM:618859
4858	NOVA2	HP:0000490	Deeply set eye	1/6	OMIM:618859
4858	NOVA2	HP:0000463	Anteverted nares	1/6	OMIM:618859
4860	PNP	HP:0001297	Stroke	HP:0040284	ORPHA:760
4860	PNP	HP:0001290	Generalized hypotonia	-	OMIM:613179
4860	PNP	HP:0001276	Hypertonia	HP:0040283	ORPHA:760
4860	PNP	HP:0001270	Motor delay	-	OMIM:613179
4860	PNP	HP:0001252	Hypotonia	HP:0040283	ORPHA:760
4860	PNP	HP:0001252	Hypotonia	-	OMIM:613179
4860	PNP	HP:0001251	Ataxia	HP:0040283	ORPHA:760
4860	PNP	HP:0001251	Ataxia	1/1	OMIM:613179
4860	PNP	HP:0001249	Intellectual disability	HP:0040283	ORPHA:760
4860	PNP	HP:0001249	Intellectual disability	-	OMIM:613179
4860	PNP	HP:0001264	Spastic diplegia	-	OMIM:613179
4860	PNP	HP:0001263	Global developmental delay	HP:0040283	ORPHA:760
4860	PNP	HP:0001257	Spasticity	HP:0040283	ORPHA:760
4860	PNP	HP:0002664	Neoplasm	HP:0040283	ORPHA:760
4860	PNP	HP:0000010	Recurrent urinary tract infections	-	OMIM:613179
4860	PNP	HP:0000007	Autosomal recessive inheritance	-	OMIM:613179
4860	PNP	HP:0002665	Lymphoma	-	OMIM:613179
4860	PNP	HP:0001337	Tremor	-	OMIM:613179
4860	PNP	HP:0002783	Recurrent lower respiratory tract infections	-	OMIM:613179
4860	PNP	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:613179
4860	PNP	HP:0002732	Lymph node hypoplasia	-	OMIM:613179
4860	PNP	HP:0002719	Recurrent infections	HP:0040282	ORPHA:760
4860	PNP	HP:0002718	Recurrent bacterial infections	-	OMIM:613179
4860	PNP	HP:0002725	Systemic lupus erythematosus	HP:0040284	ORPHA:760
4860	PNP	HP:0002090	Pneumonia	-	OMIM:613179
4860	PNP	HP:0040422	Elevated urinary inosine level	1/1	OMIM:613179
4860	PNP	HP:0040424	Elevated urinary guanosine level	1/1	OMIM:613179
4860	PNP	HP:0011935	Decreased urinary urate	HP:0040281	ORPHA:760
4860	PNP	HP:0011935	Decreased urinary urate	1/1	OMIM:613179
4860	PNP	HP:0002194	Delayed gross motor development	1/1	OMIM:613179
4860	PNP	HP:0011840	Abnormality of T cell physiology	-	OMIM:613179
4860	PNP	HP:0003593	Infantile onset	1/1	OMIM:613179
4860	PNP	HP:0002273	Tetraparesis	-	OMIM:613179
4860	PNP	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:760
4860	PNP	HP:0003537	Hypouricemia	HP:0040282	ORPHA:760
4860	PNP	HP:0003537	Hypouricemia	1/1	OMIM:613179
4860	PNP	HP:0033339	Increased circulating inosine concentration	-	OMIM:613179
4860	PNP	HP:0033340	Increased circulating guanosine concentration	-	OMIM:613179
4860	PNP	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:760
4860	PNP	HP:0032166	Unusual gastrointestinal infection	HP:0040282	ORPHA:760
4860	PNP	HP:0001973	Autoimmune thrombocytopenia	-	OMIM:613179
4860	PNP	HP:0001973	Autoimmune thrombocytopenia	HP:0040284	ORPHA:760
4860	PNP	HP:0001904	Autoimmune neutropenia	-	OMIM:613179
4860	PNP	HP:0000752	Hyperactivity	HP:0040283	ORPHA:760
4860	PNP	HP:0100021	Cerebral palsy	HP:0040283	ORPHA:760
4860	PNP	HP:0000708	Atypical behavior	-	OMIM:613179
4860	PNP	HP:0000708	Atypical behavior	HP:0040283	ORPHA:760
4860	PNP	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:760
4860	PNP	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:760
4860	PNP	HP:0004430	Severe combined immunodeficiency	HP:0040282	ORPHA:760
4860	PNP	HP:0004429	Recurrent viral infections	-	OMIM:613179
4860	PNP	HP:0045080	Decreased CD3+ T cell proportion	HP:0040283	ORPHA:760
4860	PNP	HP:0000246	Sinusitis	-	OMIM:613179
4860	PNP	HP:0001508	Failure to thrive	-	OMIM:613179
4860	PNP	HP:0031381	Decreased mitogen-induced T-cell proliferation	1/1	OMIM:613179
4860	PNP	HP:0002843	Abnormal T cell morphology	HP:0040281	ORPHA:760
4860	PNP	HP:0000388	Otitis media	-	OMIM:613179
4860	PNP	HP:0002960	Autoimmunity	HP:0040282	ORPHA:760
4860	PNP	HP:0005372	Abnormality of B cell physiology	-	OMIM:613179
4860	PNP	HP:0005363	Humoral immunodeficiency	HP:0040282	ORPHA:760
4860	PNP	HP:0005318	Cerebral vasculitis	-	OMIM:613179
4860	PNP	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:760
4860	PNP	HP:0012410	Pure red cell aplasia	1/1	OMIM:613179
4860	PNP	HP:0001744	Splenomegaly	-	OMIM:613179
4860	PNP	HP:0005390	Recurrent opportunistic infections	-	OMIM:613179
4860	PNP	HP:0001890	Autoimmune hemolytic anemia	-	OMIM:613179
4860	PNP	HP:0001890	Autoimmune hemolytic anemia	HP:0040282	ORPHA:760
4860	PNP	HP:0001888	Decreased total lymphocyte count	1/1	OMIM:613179
4860	PNP	HP:0001888	Decreased total lymphocyte count	HP:0040283	ORPHA:760
4863	NPAT	HP:0001123	Visual field defect	HP:0040283	ORPHA:440437
4863	NPAT	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:440437
4863	NPAT	HP:0001276	Hypertonia	HP:0040282	ORPHA:440437
4863	NPAT	HP:0001288	Gait disturbance	HP:0040283	ORPHA:440437
4863	NPAT	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:440437
4863	NPAT	HP:0001250	Seizure	HP:0040282	ORPHA:440437
4863	NPAT	HP:0001252	Hypotonia	HP:0040282	ORPHA:440437
4863	NPAT	HP:0001260	Dysarthria	HP:0040283	ORPHA:440437
4863	NPAT	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:440437
4863	NPAT	HP:0001371	Flexion contracture	HP:0040283	ORPHA:440437
4863	NPAT	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:440437
4863	NPAT	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:440437
4863	NPAT	HP:0012126	Stomach cancer	HP:0040284	ORPHA:440437
4863	NPAT	HP:0012113	Abnormal circulating creatine concentration	HP:0040283	ORPHA:440437
4863	NPAT	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:440437
4863	NPAT	HP:0002024	Malabsorption	HP:0040281	ORPHA:440437
4863	NPAT	HP:0002019	Constipation	HP:0040281	ORPHA:440437
4863	NPAT	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:440437
4863	NPAT	HP:0002027	Abdominal pain	HP:0040281	ORPHA:440437
4863	NPAT	HP:0002076	Migraine	HP:0040282	ORPHA:440437
4863	NPAT	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:440437
4863	NPAT	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:440437
4863	NPAT	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:440437
4863	NPAT	HP:0010526	Dysgraphia	HP:0040283	ORPHA:440437
4863	NPAT	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:440437
4863	NPAT	HP:0003401	Paresthesia	HP:0040283	ORPHA:440437
4863	NPAT	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:440437
4863	NPAT	HP:0009726	Renal neoplasm	-	ORPHA:440437
4863	NPAT	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:440437
4863	NPAT	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:440437
4863	NPAT	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:440437
4863	NPAT	HP:0002376	Developmental regression	HP:0040283	ORPHA:440437
4863	NPAT	HP:0002354	Memory impairment	HP:0040283	ORPHA:440437
4863	NPAT	HP:0100660	Dyskinesia	HP:0040283	ORPHA:440437
4863	NPAT	HP:0100615	Ovarian neoplasm	-	ORPHA:440437
4863	NPAT	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:440437
4863	NPAT	HP:0010784	Uterine neoplasm	HP:0040284	ORPHA:440437
4863	NPAT	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:440437
4863	NPAT	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:440437
4863	NPAT	HP:0100013	Neoplasm of the breast	-	ORPHA:440437
4863	NPAT	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:440437
4863	NPAT	HP:0000738	Hallucinations	HP:0040283	ORPHA:440437
4863	NPAT	HP:0000737	Irritability	HP:0040282	ORPHA:440437
4863	NPAT	HP:0000739	Anxiety	HP:0040282	ORPHA:440437
4863	NPAT	HP:0000716	Depression	HP:0040282	ORPHA:440437
4863	NPAT	HP:0000708	Atypical behavior	HP:0040282	ORPHA:440437
4863	NPAT	HP:0100273	Neoplasm of the colon	HP:0040283	ORPHA:440437
4863	NPAT	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:440437
4863	NPAT	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:440437
4863	NPAT	HP:0012378	Fatigue	HP:0040281	ORPHA:440437
4863	NPAT	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:440437
4863	NPAT	HP:0001824	Weight loss	HP:0040281	ORPHA:440437
4863	NPAT	HP:0000505	Visual impairment	HP:0040283	ORPHA:440437
4864	NPC1	HP:0001290	Generalized hypotonia	-	OMIM:257220
4864	NPC1	HP:0001250	Seizure	12/14	OMIM:257220
4864	NPC1	HP:0001252	Hypotonia	-	OMIM:257220
4864	NPC1	HP:0001251	Ataxia	-	OMIM:257220
4864	NPC1	HP:0001249	Intellectual disability	4/4	OMIM:257220
4864	NPC1	HP:0001260	Dysarthria	-	OMIM:257220
4864	NPC1	HP:0001263	Global developmental delay	-	OMIM:257220
4864	NPC1	HP:0001257	Spasticity	-	OMIM:257220
4864	NPC1	HP:0002529	Neuronal loss in central nervous system	-	OMIM:257220
4864	NPC1	HP:0002524	Cataplexy	-	OMIM:257220
4864	NPC1	HP:0001332	Dystonia	-	OMIM:257220
4864	NPC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:257220
4864	NPC1	HP:0003349	Low cholesterol esterification rate	13/13	OMIM:257220
4864	NPC1	HP:0002015	Dysphagia	-	OMIM:257220
4864	NPC1	HP:6000158	Unesterified cholesterol accumulation in cultured fibroblasts	-	OMIM:257220
4864	NPC1	HP:0002066	Gait ataxia	4/4	OMIM:257220
4864	NPC1	HP:0002185	Neurofibrillary tangles	-	OMIM:257220
4864	NPC1	HP:0002240	Hepatomegaly	7/13	OMIM:257220
4864	NPC1	HP:0002371	Loss of speech	-	OMIM:257220
4864	NPC1	HP:0003651	Foam cells	-	OMIM:257220
4864	NPC1	HP:0003640	CNS foam cells	-	OMIM:257220
4864	NPC1	HP:0003621	Juvenile onset	3/4	OMIM:257220
4864	NPC1	HP:0001982	Sea-blue histiocytosis	4/4	OMIM:257220
4864	NPC1	HP:0004333	Bone-marrow foam cells	-	OMIM:257220
4864	NPC1	HP:0000726	Dementia	-	OMIM:257220
4864	NPC1	HP:0000709	Psychosis	-	OMIM:257220
4864	NPC1	HP:0011462	Young adult onset	1/4	OMIM:257220
4864	NPC1	HP:0006583	Fatal liver failure in infancy	-	OMIM:257220
4864	NPC1	HP:0006579	Prolonged neonatal jaundice	-	OMIM:257220
4864	NPC1	HP:0001791	Fetal ascites	-	OMIM:257220
4864	NPC1	HP:0001744	Splenomegaly	4/13	OMIM:257220
4864	NPC1	HP:0000511	Vertical supranuclear gaze palsy	-	OMIM:257220
4867	NPHP1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
4867	NPHP1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0100957	Abnormal renal medulla morphology	-	OMIM:609583
4867	NPHP1	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
4867	NPHP1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
4867	NPHP1	HP:0003774	Stage 5 chronic kidney disease	1/2	OMIM:609583
4867	NPHP1	HP:0003774	Stage 5 chronic kidney disease	6/8	OMIM:266900
4867	NPHP1	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:256100
4867	NPHP1	HP:0003774	Stage 5 chronic kidney disease	HP:0040281	ORPHA:3156
4867	NPHP1	HP:0002419	Molar tooth sign on MRI	-	OMIM:609583
4867	NPHP1	HP:0002419	Molar tooth sign on MRI	HP:0040281	ORPHA:220497
4867	NPHP1	HP:0002404	Thickened superior cerebellar peduncle	1/2	OMIM:609583
4867	NPHP1	HP:0001290	Generalized hypotonia	-	OMIM:609583
4867	NPHP1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:220497
4867	NPHP1	HP:0001250	Seizure	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0001250	Seizure	HP:0040283	ORPHA:110
4867	NPHP1	HP:0001252	Hypotonia	HP:0040281	ORPHA:220497
4867	NPHP1	HP:0001252	Hypotonia	1/2	OMIM:609583
4867	NPHP1	HP:0001251	Ataxia	HP:0040281	ORPHA:220497
4867	NPHP1	HP:0001251	Ataxia	HP:0040283	ORPHA:110
4867	NPHP1	HP:0001251	Ataxia	HP:0040283	ORPHA:3156
4867	NPHP1	HP:0001251	Ataxia	1/2	OMIM:609583
4867	NPHP1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:220497
4867	NPHP1	HP:0001249	Intellectual disability	1/8	OMIM:266900
4867	NPHP1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
4867	NPHP1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:220497
4867	NPHP1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3156
4867	NPHP1	HP:0001263	Global developmental delay	1/2	OMIM:609583
4867	NPHP1	HP:0001257	Spasticity	HP:0040283	ORPHA:110
4867	NPHP1	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
4867	NPHP1	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
4867	NPHP1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
4867	NPHP1	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
4867	NPHP1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0000083	Renal insufficiency	1/2	OMIM:609583
4867	NPHP1	HP:0000083	Renal insufficiency	1/8	OMIM:266900
4867	NPHP1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000090	Nephronophthisis	-	OMIM:609583
4867	NPHP1	HP:0000090	Nephronophthisis	-	OMIM:266900
4867	NPHP1	HP:0000090	Nephronophthisis	HP:0040282	ORPHA:3156
4867	NPHP1	HP:0000090	Nephronophthisis	2/2	OMIM:256100
4867	NPHP1	HP:0000092	Renal tubular atrophy	-	OMIM:256100
4867	NPHP1	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
4867	NPHP1	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
4867	NPHP1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
4867	NPHP1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
4867	NPHP1	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:266900
4867	NPHP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
4867	NPHP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:609583
4867	NPHP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:256100
4867	NPHP1	HP:0001337	Tremor	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
4867	NPHP1	HP:0001320	Cerebellar vermis hypoplasia	1/1	OMIM:609583
4867	NPHP1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:220497
4867	NPHP1	HP:0002650	Scoliosis	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:3156
4867	NPHP1	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
4867	NPHP1	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
4867	NPHP1	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
4867	NPHP1	HP:0000175	Cleft palate	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
4867	NPHP1	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
4867	NPHP1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
4867	NPHP1	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
4867	NPHP1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
4867	NPHP1	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
4867	NPHP1	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:220497
4867	NPHP1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000112	Nephropathy	HP:0040281	ORPHA:220497
4867	NPHP1	HP:0000108	Renal corticomedullary cysts	-	OMIM:256100
4867	NPHP1	HP:0000103	Polyuria	3/8	OMIM:266900
4867	NPHP1	HP:0000103	Polyuria	-	OMIM:256100
4867	NPHP1	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
4867	NPHP1	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
4867	NPHP1	HP:0002084	Encephalocele	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
4867	NPHP1	HP:0002099	Asthma	HP:0040283	ORPHA:110
4867	NPHP1	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
4867	NPHP1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0002104	Apnea	HP:0040281	ORPHA:220497
4867	NPHP1	HP:0011933	Elongated superior cerebellar peduncle	-	OMIM:609583
4867	NPHP1	HP:0002194	Delayed gross motor development	2/2	OMIM:609583
4867	NPHP1	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
4867	NPHP1	HP:0002172	Postural instability	1/2	OMIM:609583
4867	NPHP1	HP:0008209	Premature ovarian insufficiency	HP:0040282	ORPHA:3156
4867	NPHP1	HP:0004727	Impaired renal concentrating ability	3/8	OMIM:266900
4867	NPHP1	HP:0010579	Cone-shaped epiphysis	HP:0040283	ORPHA:3156
4867	NPHP1	HP:0003577	Congenital onset	1/1	OMIM:609583
4867	NPHP1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
4867	NPHP1	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
4867	NPHP1	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
4867	NPHP1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:220497
4867	NPHP1	HP:0020132	Thickening of the tubular basement membrane	1/1	OMIM:266900
4867	NPHP1	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
4867	NPHP1	HP:0003621	Juvenile onset	7/8	OMIM:266900
4867	NPHP1	HP:0003621	Juvenile onset	8/19	OMIM:180100
4867	NPHP1	HP:0005576	Tubulointerstitial fibrosis	1/1	OMIM:266900
4867	NPHP1	HP:0005576	Tubulointerstitial fibrosis	-	OMIM:256100
4867	NPHP1	HP:0005583	Tubular basement membrane disintegration	-	OMIM:256100
4867	NPHP1	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
4867	NPHP1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
4867	NPHP1	HP:0012622	Chronic kidney disease	HP:0040281	ORPHA:3156
4867	NPHP1	HP:0000639	Nystagmus	HP:0040282	ORPHA:220497
4867	NPHP1	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
4867	NPHP1	HP:0000639	Nystagmus	1/2	OMIM:609583
4867	NPHP1	HP:0000618	Blindness	HP:0040282	ORPHA:110
4867	NPHP1	HP:0000613	Photophobia	HP:0040282	ORPHA:110
4867	NPHP1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0001959	Polydipsia	4/8	OMIM:266900
4867	NPHP1	HP:0001959	Polydipsia	-	OMIM:256100
4867	NPHP1	HP:0001903	Anemia	-	OMIM:266900
4867	NPHP1	HP:0001903	Anemia	-	OMIM:256100
4867	NPHP1	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
4867	NPHP1	HP:0000691	Microdontia	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
4867	NPHP1	HP:0000662	Nyctalopia	26/28	OMIM:180100
4867	NPHP1	HP:0000657	Oculomotor apraxia	-	OMIM:609583
4867	NPHP1	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:220497
4867	NPHP1	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
4867	NPHP1	HP:0004322	Short stature	HP:0040281	ORPHA:3156
4867	NPHP1	HP:0004322	Short stature	HP:0040282	ORPHA:110
4867	NPHP1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:3156
4867	NPHP1	HP:0000739	Anxiety	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000736	Short attention span	HP:0040282	ORPHA:110
4867	NPHP1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000716	Depression	HP:0040282	ORPHA:110
4867	NPHP1	HP:0000717	Autism	HP:0040282	ORPHA:110
4867	NPHP1	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
4867	NPHP1	HP:0011463	Childhood onset	3/19	OMIM:180100
4867	NPHP1	HP:0011462	Young adult onset	1/8	OMIM:266900
4867	NPHP1	HP:0011462	Young adult onset	8/19	OMIM:180100
4867	NPHP1	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
4867	NPHP1	HP:0000789	Infertility	HP:0040283	ORPHA:110
4867	NPHP1	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
4867	NPHP1	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:220497
4867	NPHP1	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
4867	NPHP1	HP:0003158	Hyposthenuria	-	OMIM:256100
4867	NPHP1	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000822	Hypertension	HP:0040282	ORPHA:110
4867	NPHP1	HP:0000822	Hypertension	HP:0040281	ORPHA:3156
4867	NPHP1	HP:0000822	Hypertension	-	OMIM:256100
4867	NPHP1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
4867	NPHP1	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
4867	NPHP1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
4867	NPHP1	HP:0003259	Elevated circulating creatinine concentration	2/8	OMIM:266900
4867	NPHP1	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
4867	NPHP1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:3156
4867	NPHP1	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000276	Long face	HP:0040282	ORPHA:220497
4867	NPHP1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
4867	NPHP1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0000218	High palate	HP:0040282	ORPHA:110
4867	NPHP1	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0001510	Growth delay	-	OMIM:256100
4867	NPHP1	HP:0001513	Obesity	HP:0040281	ORPHA:110
4867	NPHP1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
4867	NPHP1	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
4867	NPHP1	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
4867	NPHP1	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000388	Otitis media	HP:0040283	ORPHA:110
4867	NPHP1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
4867	NPHP1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
4867	NPHP1	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:220497
4867	NPHP1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
4867	NPHP1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
4867	NPHP1	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
4867	NPHP1	HP:0000400	Macrotia	HP:0040283	ORPHA:110
4867	NPHP1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000486	Strabismus	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0000486	Strabismus	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0000470	Short neck	HP:0040283	ORPHA:110
4867	NPHP1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000518	Cataract	HP:0040283	ORPHA:110
4867	NPHP1	HP:0000518	Cataract	HP:0040283	ORPHA:3156
4867	NPHP1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
4867	NPHP1	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
4867	NPHP1	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:3156
4867	NPHP1	HP:0000508	Ptosis	HP:0040283	ORPHA:220497
4867	NPHP1	HP:0000505	Visual impairment	HP:0040281	ORPHA:3156
4867	NPHP1	HP:0000575	Scotoma	5/18	OMIM:180100
4867	NPHP1	HP:0000556	Retinal dystrophy	5/6	OMIM:266900
4867	NPHP1	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
4867	NPHP1	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:3156
4867	NPHP1	HP:0000571	Hypometric saccades	1/2	OMIM:609583
4867	NPHP1	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
4867	NPHP1	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
4867	NPHP1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
4867	NPHP1	HP:0000545	Myopia	-	OMIM:180100
4868	NPHS1	HP:0003774	Stage 5 chronic kidney disease	1/3	OMIM:256300
4868	NPHS1	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
4868	NPHS1	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
4868	NPHS1	HP:0008677	Congenital nephrotic syndrome	-	OMIM:256300
4868	NPHS1	HP:0000083	Renal insufficiency	-	OMIM:256300
4868	NPHS1	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
4868	NPHS1	HP:0000096	Glomerular sclerosis	-	OMIM:256300
4868	NPHS1	HP:0000091	Abnormal renal tubule morphology	HP:0040281	ORPHA:839
4868	NPHS1	HP:0000093	Proteinuria	3/3	OMIM:256300
4868	NPHS1	HP:0000093	Proteinuria	HP:0040281	ORPHA:839
4868	NPHS1	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
4868	NPHS1	HP:0000092	Renal tubular atrophy	-	OMIM:256300
4868	NPHS1	HP:0012050	Anasarca	2/2	OMIM:256300
4868	NPHS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:256300
4868	NPHS1	HP:0002643	Neonatal respiratory distress	-	OMIM:256300
4868	NPHS1	HP:0000100	Nephrotic syndrome	3/3	OMIM:256300
4868	NPHS1	HP:0000100	Nephrotic syndrome	HP:0040281	ORPHA:839
4868	NPHS1	HP:0002719	Recurrent infections	-	OMIM:256300
4868	NPHS1	HP:0002021	Pyloric stenosis	-	OMIM:256300
4868	NPHS1	HP:0002020	Gastroesophageal reflux	-	OMIM:256300
4868	NPHS1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
4868	NPHS1	HP:0004639	Elevated amniotic fluid alpha-fetoprotein	HP:0040281	ORPHA:839
4868	NPHS1	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
4868	NPHS1	HP:0003577	Congenital onset	-	OMIM:256300
4868	NPHS1	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
4868	NPHS1	HP:0003678	Rapidly progressive	-	OMIM:256300
4868	NPHS1	HP:0002315	Headache	HP:0040283	ORPHA:656
4868	NPHS1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
4868	NPHS1	HP:0001967	Diffuse mesangial sclerosis	-	OMIM:256300
4868	NPHS1	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
4868	NPHS1	HP:0001945	Fever	HP:0040283	ORPHA:656
4868	NPHS1	HP:0000696	Delayed eruption of permanent teeth	HP:0040281	ORPHA:839
4868	NPHS1	HP:0003077	Hyperlipidemia	-	OMIM:256300
4868	NPHS1	HP:0003075	Hypoproteinemia	3/3	OMIM:256300
4868	NPHS1	HP:0003073	Hypoalbuminemia	3/3	OMIM:256300
4868	NPHS1	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
4868	NPHS1	HP:0000737	Irritability	HP:0040283	ORPHA:656
4868	NPHS1	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
4868	NPHS1	HP:0003124	Hypercholesterolemia	3/3	OMIM:256300
4868	NPHS1	HP:0000821	Hypothyroidism	-	OMIM:256300
4868	NPHS1	HP:0003270	Abdominal distention	-	OMIM:256300
4868	NPHS1	HP:0000969	Edema	-	OMIM:256300
4868	NPHS1	HP:0000969	Edema	HP:0040281	ORPHA:656
4868	NPHS1	HP:0001518	Small for gestational age	-	OMIM:256300
4868	NPHS1	HP:0001510	Growth delay	-	OMIM:256300
4868	NPHS1	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
4868	NPHS1	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
4869	NPM1	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:1775
4869	NPM1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1775
4869	NPM1	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1775
4869	NPM1	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1775
4869	NPM1	HP:0031035	Chronic infection	HP:0040282	ORPHA:520
4869	NPM1	HP:0008661	Urethral stenosis	HP:0040282	ORPHA:1775
4869	NPM1	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:1775
4869	NPM1	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:520
4869	NPM1	HP:0001399	Hepatic failure	HP:0040283	ORPHA:1775
4869	NPM1	HP:0001394	Cirrhosis	HP:0040283	ORPHA:1775
4869	NPM1	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:1775
4869	NPM1	HP:0002664	Neoplasm	HP:0040282	ORPHA:1775
4869	NPM1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:520
4869	NPM1	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040282	ORPHA:1775
4869	NPM1	HP:0002665	Lymphoma	HP:0040283	ORPHA:1775
4869	NPM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:601626
4869	NPM1	HP:0002653	Bone pain	HP:0040283	ORPHA:520
4869	NPM1	HP:0002650	Scoliosis	HP:0040283	ORPHA:1775
4869	NPM1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:1775
4869	NPM1	HP:0025420	Diffuse alveolar hemorrhage	HP:0040283	ORPHA:520
4869	NPM1	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:1775
4869	NPM1	HP:0001442	Typified by somatic mosaicism	-	OMIM:601626
4869	NPM1	HP:0002745	Oral leukoplakia	HP:0040281	ORPHA:1775
4869	NPM1	HP:0031245	Productive cough	HP:0040283	ORPHA:520
4869	NPM1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:520
4869	NPM1	HP:0002024	Malabsorption	HP:0040282	ORPHA:1775
4869	NPM1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:520
4869	NPM1	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:520
4869	NPM1	HP:0002039	Anorexia	HP:0040282	ORPHA:520
4869	NPM1	HP:0010450	Esophageal stenosis	HP:0040282	ORPHA:1775
4869	NPM1	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:1775
4869	NPM1	HP:0011900	Hypofibrinogenemia	HP:0040283	ORPHA:520
4869	NPM1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:1775
4869	NPM1	HP:0002216	Premature graying of hair	HP:0040283	ORPHA:1775
4869	NPM1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1775
4869	NPM1	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:1775
4869	NPM1	HP:0100758	Gangrene	HP:0040284	ORPHA:520
4869	NPM1	HP:0010624	Aplastic/hypoplastic toenail	HP:0040282	ORPHA:1775
4869	NPM1	HP:0004808	Acute myeloid leukemia	-	OMIM:601626
4869	NPM1	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:1775
4869	NPM1	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:1775
4869	NPM1	HP:0002321	Vertigo	HP:0040282	ORPHA:520
4869	NPM1	HP:0200037	Skin vesicle	HP:0040283	ORPHA:1775
4869	NPM1	HP:0100670	Coarse metaphyseal trabecularization	HP:0040282	ORPHA:1775
4869	NPM1	HP:0100608	Metrorrhagia	HP:0040284	ORPHA:520
4869	NPM1	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:1775
4869	NPM1	HP:0200042	Skin ulcer	HP:0040282	ORPHA:1775
4869	NPM1	HP:0005528	Bone marrow hypocellularity	HP:0040282	ORPHA:1775
4869	NPM1	HP:0005521	Disseminated intravascular coagulation	HP:0040282	ORPHA:520
4869	NPM1	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:520
4869	NPM1	HP:0001945	Fever	HP:0040282	ORPHA:520
4869	NPM1	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:1775
4869	NPM1	HP:0000600	Abnormality of the pharynx	HP:0040282	ORPHA:1775
4869	NPM1	HP:0001903	Anemia	HP:0040282	ORPHA:520
4869	NPM1	HP:0001903	Anemia	HP:0040281	ORPHA:1775
4869	NPM1	HP:0011364	White hair	HP:0040283	ORPHA:1775
4869	NPM1	HP:0000679	Taurodontia	HP:0040282	ORPHA:1775
4869	NPM1	HP:0000670	Carious teeth	HP:0040282	ORPHA:1775
4869	NPM1	HP:0000668	Hypodontia	HP:0040282	ORPHA:1775
4869	NPM1	HP:0004322	Short stature	HP:0040282	ORPHA:1775
4869	NPM1	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:1775
4869	NPM1	HP:0012733	Macule	HP:0040281	ORPHA:1775
4869	NPM1	HP:0000704	Periodontitis	HP:0040282	ORPHA:1775
4869	NPM1	HP:0000790	Hematuria	HP:0040284	ORPHA:520
4869	NPM1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1775
4869	NPM1	HP:0010280	Stomatitis	HP:0040283	ORPHA:520
4869	NPM1	HP:0000979	Purpura	HP:0040282	ORPHA:520
4869	NPM1	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1775
4869	NPM1	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:520
4869	NPM1	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:1775
4869	NPM1	HP:0000967	Petechiae	HP:0040282	ORPHA:520
4869	NPM1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:1775
4869	NPM1	HP:0008070	Sparse hair	HP:0040282	ORPHA:1775
4869	NPM1	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1775
4869	NPM1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:1775
4869	NPM1	HP:0001596	Alopecia	HP:0040283	ORPHA:1775
4869	NPM1	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:520
4869	NPM1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:520
4869	NPM1	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:1775
4869	NPM1	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:520
4869	NPM1	HP:0031364	Ecchymosis	HP:0040282	ORPHA:520
4869	NPM1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1775
4869	NPM1	HP:0012378	Fatigue	HP:0040282	ORPHA:520
4869	NPM1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1775
4869	NPM1	HP:0030140	Oral cavity bleeding	HP:0040283	ORPHA:520
4869	NPM1	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:1775
4869	NPM1	HP:0000499	Abnormal eyelash morphology	HP:0040283	ORPHA:1775
4869	NPM1	HP:0000498	Blepharitis	HP:0040283	ORPHA:1775
4869	NPM1	HP:0005374	Cellular immunodeficiency	HP:0040282	ORPHA:1775
4869	NPM1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1775
4869	NPM1	HP:0000421	Epistaxis	HP:0040282	ORPHA:520
4869	NPM1	HP:0000518	Cataract	HP:0040283	ORPHA:1775
4869	NPM1	HP:0001824	Weight loss	HP:0040282	ORPHA:520
4869	NPM1	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:520
4869	NPM1	HP:0000534	Abnormal eyebrow morphology	HP:0040283	ORPHA:1775
4869	NPM1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:520
4869	NPM1	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:1775
4869	NPM1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:520
4869	NPM1	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:1775
4869	NPM1	HP:0001876	Pancytopenia	HP:0040282	ORPHA:520
4869	NPM1	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:520
4878	NPPA	HP:0410174	Increased circulating troponin T concentration	HP:0040282	ORPHA:1344
4878	NPPA	HP:0001297	Stroke	-	OMIM:615745
4878	NPPA	HP:0001279	Syncope	HP:0040282	ORPHA:334
4878	NPPA	HP:0001279	Syncope	HP:0040283	ORPHA:1344
4878	NPPA	HP:0001260	Dysarthria	HP:0040283	ORPHA:1344
4878	NPPA	HP:0001371	Flexion contracture	HP:0040283	ORPHA:1344
4878	NPPA	HP:0000007	Autosomal recessive inheritance	-	OMIM:615745
4878	NPPA	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
4878	NPPA	HP:0000006	Autosomal dominant inheritance	-	OMIM:612201
4878	NPPA	HP:0002617	Vascular dilatation	-	OMIM:615745
4878	NPPA	HP:0025478	Atrial standstill	HP:0040281	ORPHA:1344
4878	NPPA	HP:0025478	Atrial standstill	-	OMIM:615745
4878	NPPA	HP:0031295	Left atrial enlargement	7/11	OMIM:612201
4878	NPPA	HP:0030973	Postexertional symptom exacerbation	HP:0040282	ORPHA:1344
4878	NPPA	HP:0002018	Nausea	HP:0040283	ORPHA:1344
4878	NPPA	HP:0002094	Dyspnea	-	OMIM:615745
4878	NPPA	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
4878	NPPA	HP:0002094	Dyspnea	HP:0040282	ORPHA:1344
4878	NPPA	HP:0033122	Absent P wave	-	OMIM:615745
4878	NPPA	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:1344
4878	NPPA	HP:0011704	Sick sinus syndrome	HP:0040282	ORPHA:1344
4878	NPPA	HP:0011707	Mobitz I atrioventricular block	HP:0040283	ORPHA:1344
4878	NPPA	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:1344
4878	NPPA	HP:0004756	Ventricular tachycardia	HP:0040283	ORPHA:1344
4878	NPPA	HP:0003596	Middle age onset	5/11	OMIM:612201
4878	NPPA	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
4878	NPPA	HP:0003560	Muscular dystrophy	HP:0040282	ORPHA:1344
4878	NPPA	HP:0200127	Atrial cardiomyopathy	-	OMIM:615745
4878	NPPA	HP:0100749	Chest pain	HP:0040282	ORPHA:334
4878	NPPA	HP:0002381	Aphasia	HP:0040283	ORPHA:1344
4878	NPPA	HP:0002321	Vertigo	HP:0040282	ORPHA:334
4878	NPPA	HP:0002321	Vertigo	HP:0040283	ORPHA:1344
4878	NPPA	HP:0002315	Headache	HP:0040283	ORPHA:1344
4878	NPPA	HP:0100699	Scarring	-	OMIM:615745
4878	NPPA	HP:0002301	Hemiplegia	HP:0040283	ORPHA:1344
4878	NPPA	HP:0001962	Palpitations	HP:0040282	ORPHA:334
4878	NPPA	HP:0001962	Palpitations	HP:0040281	ORPHA:1344
4878	NPPA	HP:0001962	Palpitations	-	OMIM:615745
4878	NPPA	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
4878	NPPA	HP:0001907	Thromboembolism	HP:0040283	ORPHA:1344
4878	NPPA	HP:0012664	Reduced left ventricular ejection fraction	0/11	OMIM:612201
4878	NPPA	HP:0012664	Reduced left ventricular ejection fraction	HP:0040282	ORPHA:1344
4878	NPPA	HP:0030682	Left ventricular noncompaction	HP:0040282	ORPHA:1344
4878	NPPA	HP:0011462	Young adult onset	6/11	OMIM:612201
4878	NPPA	HP:0003238	Hyperpepsinogenemia I	-	OMIM:615745
4878	NPPA	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:1344
4878	NPPA	HP:0034307	Elevated left ventricular end-diastolic diameter	5/11	OMIM:612201
4878	NPPA	HP:0011675	Arrhythmia	HP:0040282	ORPHA:1344
4878	NPPA	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
4878	NPPA	HP:0005110	Atrial fibrillation	11/11	OMIM:612201
4878	NPPA	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
4878	NPPA	HP:0012378	Fatigue	HP:0040282	ORPHA:334
4878	NPPA	HP:0012378	Fatigue	HP:0040282	ORPHA:1344
4878	NPPA	HP:0005155	Ventricular escape rhythm	HP:0040281	ORPHA:1344
4878	NPPA	HP:0001692	Atrial arrhythmia	-	OMIM:615745
4878	NPPA	HP:0001664	Torsade de pointes	1/46	OMIM:115000
4878	NPPA	HP:0001645	Sudden cardiac death	-	OMIM:115000
4878	NPPA	HP:0001663	Ventricular fibrillation	-	OMIM:115000
4878	NPPA	HP:0001662	Bradycardia	HP:0040283	ORPHA:1344
4878	NPPA	HP:0001662	Bradycardia	-	OMIM:615745
4878	NPPA	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
4878	NPPA	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:1344
4878	NPPA	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:1344
4878	NPPA	HP:0001638	Cardiomyopathy	-	OMIM:615745
4878	NPPA	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:1344
4878	NPPA	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
4878	NPPA	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
4878	NPPA	HP:0006698	Dilatation of the ventricular cavity	-	OMIM:615745
4878	NPPA	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
4878	NPPA	HP:0001712	Left ventricular hypertrophy	0/11	OMIM:612201
4878	NPPA	HP:0031546	Cardiac conduction abnormality	HP:0040281	ORPHA:1344
4878	NPPA	HP:0031595	Abnormal P wave	HP:0040281	ORPHA:1344
4880	NPPC	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4880	NPPC	HP:0001293	Cranial nerve compression	-	OMIM:131300
4880	NPPC	HP:0001252	Hypotonia	2/7	OMIM:615777
4880	NPPC	HP:0001249	Intellectual disability	5/7	OMIM:615777
4880	NPPC	HP:0001263	Global developmental delay	-	OMIM:615777
4880	NPPC	HP:0002515	Waddling gait	54/102	OMIM:131300
4880	NPPC	HP:0001382	Joint hypermobility	-	OMIM:615777
4880	NPPC	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4880	NPPC	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4880	NPPC	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4880	NPPC	HP:0001324	Muscle weakness	40/96	OMIM:131300
4880	NPPC	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4880	NPPC	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4880	NPPC	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4880	NPPC	HP:0002650	Scoliosis	12/14	OMIM:131300
4880	NPPC	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4880	NPPC	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4880	NPPC	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4880	NPPC	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4880	NPPC	HP:0000175	Cleft palate	2/7	OMIM:615777
4880	NPPC	HP:0003388	Easy fatigability	36/76	OMIM:131300
4880	NPPC	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4880	NPPC	HP:0003510	Severe short stature	7/7	OMIM:615777
4880	NPPC	HP:0002315	Headache	-	OMIM:131300
4880	NPPC	HP:0004976	Knee dislocation	6/7	OMIM:615777
4880	NPPC	HP:0009803	Short phalanx of finger	-	OMIM:615777
4880	NPPC	HP:0009763	Limb pain	63/92	OMIM:131300
4880	NPPC	HP:0003621	Juvenile onset	-	OMIM:131300
4880	NPPC	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4880	NPPC	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4880	NPPC	HP:6001056	Out-toeing	-	OMIM:131300
4880	NPPC	HP:0000651	Diplopia	-	OMIM:131300
4880	NPPC	HP:0001956	Truncal obesity	2/7	OMIM:615777
4880	NPPC	HP:0001903	Anemia	HP:0040283	OMIM:131300
4880	NPPC	HP:0010049	Short metacarpal	-	OMIM:615777
4880	NPPC	HP:0000678	Dental crowding	-	OMIM:615777
4880	NPPC	HP:0000670	Carious teeth	-	OMIM:131300
4880	NPPC	HP:0011304	Broad thumb	2/7	OMIM:615777
4880	NPPC	HP:0000668	Hypodontia	-	OMIM:615777
4880	NPPC	HP:0000664	Synophrys	-	OMIM:615777
4880	NPPC	HP:0004396	Poor appetite	-	OMIM:131300
4880	NPPC	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4880	NPPC	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4880	NPPC	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4880	NPPC	HP:0003026	Short long bone	7/7	OMIM:615777
4880	NPPC	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4880	NPPC	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4880	NPPC	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4880	NPPC	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4880	NPPC	HP:0000750	Delayed speech and language development	-	OMIM:615777
4880	NPPC	HP:0011461	Fetal onset	7/7	OMIM:615777
4880	NPPC	HP:0000774	Narrow chest	2/7	OMIM:615777
4880	NPPC	HP:0000926	Platyspondyly	1/7	OMIM:615777
4880	NPPC	HP:0003180	Flat acetabular roof	-	OMIM:615777
4880	NPPC	HP:0004482	Relative macrocephaly	-	OMIM:615777
4880	NPPC	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4880	NPPC	HP:0000823	Delayed puberty	-	OMIM:131300
4880	NPPC	HP:0000894	Short clavicles	-	OMIM:615777
4880	NPPC	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4880	NPPC	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4880	NPPC	HP:0000286	Epicanthus	1/7	OMIM:615777
4880	NPPC	HP:0000280	Coarse facial features	2/7	OMIM:615777
4880	NPPC	HP:0002827	Hip dislocation	3/7	OMIM:615777
4880	NPPC	HP:0000252	Microcephaly	-	OMIM:615777
4880	NPPC	HP:0002857	Genu valgum	-	OMIM:131300
4880	NPPC	HP:0001533	Slender build	-	OMIM:131300
4880	NPPC	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4880	NPPC	HP:0007807	Optic nerve compression	-	OMIM:131300
4880	NPPC	HP:0012368	Flat face	7/7	OMIM:615777
4880	NPPC	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4880	NPPC	HP:0000365	Hearing impairment	10/67	OMIM:131300
4880	NPPC	HP:0000343	Long philtrum	1/7	OMIM:615777
4880	NPPC	HP:0011001	Increased bone mineral density	-	OMIM:131300
4880	NPPC	HP:0000311	Round face	2/7	OMIM:615777
4880	NPPC	HP:0002970	Genu varum	-	OMIM:615777
4880	NPPC	HP:0000303	Mandibular prognathia	-	OMIM:131300
4880	NPPC	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4880	NPPC	HP:0000470	Short neck	1/7	OMIM:615777
4880	NPPC	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4880	NPPC	HP:0001763	Pes planus	1/7	OMIM:615777
4880	NPPC	HP:0001840	Metatarsus adductus	-	OMIM:615777
4880	NPPC	HP:0000520	Proptosis	2/4	OMIM:131300
4880	NPPC	HP:0000520	Proptosis	7/7	OMIM:615777
4880	NPPC	HP:0000592	Blue sclerae	2/7	OMIM:615777
4880	NPPC	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4880	NPPC	HP:0012514	Lower limb pain	4/4	OMIM:131300
4882	NPR2	HP:0009901	Crumpled ear	90/119	OMIM:121050
4882	NPR2	HP:0001181	Adducted thumb	42/90	OMIM:121050
4882	NPR2	HP:0001156	Brachydactyly	HP:0040282	ORPHA:40
4882	NPR2	HP:0001166	Arachnodactyly	104/124	OMIM:121050
4882	NPR2	HP:0001166	Arachnodactyly	1/1	OMIM:615923
4882	NPR2	HP:0001166	Arachnodactyly	124/197	OMIM:154700
4882	NPR2	HP:0001166	Arachnodactyly	34/37	OMIM:182212
4882	NPR2	HP:0001166	Arachnodactyly	6/15	OMIM:208050
4882	NPR2	HP:0003745	Sporadic	-	OMIM:182212
4882	NPR2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
4882	NPR2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4882	NPR2	HP:0032208	Increased urinary type 1 collagen N-terminal telopeptide level	1/1	OMIM:615923
4882	NPR2	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
4882	NPR2	HP:0001293	Cranial nerve compression	-	OMIM:131300
4882	NPR2	HP:0001290	Generalized hypotonia	-	OMIM:208050
4882	NPR2	HP:0001290	Generalized hypotonia	-	OMIM:182212
4882	NPR2	HP:0001270	Motor delay	-	OMIM:121050
4882	NPR2	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
4882	NPR2	HP:0001252	Hypotonia	2/7	OMIM:615777
4882	NPR2	HP:0001252	Hypotonia	26/37	OMIM:182212
4882	NPR2	HP:0001249	Intellectual disability	0/9	OMIM:602875
4882	NPR2	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
4882	NPR2	HP:0001249	Intellectual disability	5/7	OMIM:615777
4882	NPR2	HP:0001249	Intellectual disability	-	OMIM:182212
4882	NPR2	HP:0001263	Global developmental delay	-	OMIM:615777
4882	NPR2	HP:0001263	Global developmental delay	-	OMIM:182212
4882	NPR2	HP:0001230	Broad metacarpals	-	OMIM:602875
4882	NPR2	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
4882	NPR2	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
4882	NPR2	HP:0006009	Broad phalanx	-	OMIM:602875
4882	NPR2	HP:0002515	Waddling gait	54/102	OMIM:131300
4882	NPR2	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
4882	NPR2	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
4882	NPR2	HP:0000098	Tall stature	1/1	OMIM:615923
4882	NPR2	HP:0000098	Tall stature	-	OMIM:154700
4882	NPR2	HP:0001377	Limited elbow extension	-	OMIM:602875
4882	NPR2	HP:0001377	Limited elbow extension	94/109	OMIM:121050
4882	NPR2	HP:0001377	Limited elbow extension	29/199	OMIM:154700
4882	NPR2	HP:0001371	Flexion contracture	-	OMIM:208050
4882	NPR2	HP:0001371	Flexion contracture	-	OMIM:154700
4882	NPR2	HP:0001387	Joint stiffness	HP:0040282	ORPHA:40
4882	NPR2	HP:0001382	Joint hypermobility	1/1	OMIM:130050
4882	NPR2	HP:0001382	Joint hypermobility	-	OMIM:602875
4882	NPR2	HP:0001382	Joint hypermobility	12/14	OMIM:208050
4882	NPR2	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:40
4882	NPR2	HP:0001382	Joint hypermobility	11/53	OMIM:154700
4882	NPR2	HP:0001382	Joint hypermobility	-	OMIM:615777
4882	NPR2	HP:0001382	Joint hypermobility	31/47	OMIM:182212
4882	NPR2	HP:0000023	Inguinal hernia	11/11	OMIM:130050
4882	NPR2	HP:0000023	Inguinal hernia	8/15	OMIM:208050
4882	NPR2	HP:0000023	Inguinal hernia	19/34	OMIM:182212
4882	NPR2	HP:0001363	Craniosynostosis	18/37	OMIM:182212
4882	NPR2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4882	NPR2	HP:0000028	Cryptorchidism	1/1	OMIM:130050
4882	NPR2	HP:0000028	Cryptorchidism	1/13	OMIM:182212
4882	NPR2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4882	NPR2	HP:0008873	Disproportionate short-limb short stature	9/9	OMIM:602875
4882	NPR2	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
4882	NPR2	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
4882	NPR2	HP:0007516	Redundant skin on fingers	-	OMIM:602875
4882	NPR2	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
4882	NPR2	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
4882	NPR2	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
4882	NPR2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4882	NPR2	HP:0002656	Epiphyseal dysplasia	-	OMIM:615923
4882	NPR2	HP:0001324	Muscle weakness	40/96	OMIM:131300
4882	NPR2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4882	NPR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
4882	NPR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4882	NPR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:602875
4882	NPR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:615923
4882	NPR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
4882	NPR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616255
4882	NPR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
4882	NPR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
4882	NPR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4882	NPR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
4882	NPR2	HP:0002650	Scoliosis	HP:0040282	ORPHA:40
4882	NPR2	HP:0002650	Scoliosis	16/53	OMIM:154700
4882	NPR2	HP:0002650	Scoliosis	11/15	OMIM:121050
4882	NPR2	HP:0002650	Scoliosis	1/1	OMIM:615923
4882	NPR2	HP:0002650	Scoliosis	12/14	OMIM:131300
4882	NPR2	HP:0002650	Scoliosis	3/15	OMIM:208050
4882	NPR2	HP:0002650	Scoliosis	23/37	OMIM:182212
4882	NPR2	HP:0002647	Aortic dissection	1/58	OMIM:154700
4882	NPR2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4882	NPR2	HP:0002619	Varicose veins	-	OMIM:130050
4882	NPR2	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
4882	NPR2	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
4882	NPR2	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
4882	NPR2	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
4882	NPR2	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
4882	NPR2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4882	NPR2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4882	NPR2	HP:0000189	Narrow palate	-	OMIM:182212
4882	NPR2	HP:0000189	Narrow palate	-	OMIM:154700
4882	NPR2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4882	NPR2	HP:0000193	Bifid uvula	0/14	OMIM:208050
4882	NPR2	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
4882	NPR2	HP:0012151	Hemothorax	3/4	OMIM:130050
4882	NPR2	HP:0000175	Cleft palate	2/7	OMIM:615777
4882	NPR2	HP:0000139	Uterine prolapse	-	OMIM:130050
4882	NPR2	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
4882	NPR2	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
4882	NPR2	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
4882	NPR2	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
4882	NPR2	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
4882	NPR2	HP:0002750	Delayed skeletal maturation	HP:0040283	OMIM:616255
4882	NPR2	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
4882	NPR2	HP:0002036	Hiatus hernia	-	OMIM:208050
4882	NPR2	HP:0002007	Frontal bossing	-	OMIM:121050
4882	NPR2	HP:0002007	Frontal bossing	-	OMIM:602875
4882	NPR2	HP:0002007	Frontal bossing	HP:0040282	ORPHA:40
4882	NPR2	HP:0002007	Frontal bossing	-	OMIM:182212
4882	NPR2	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:40
4882	NPR2	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:40
4882	NPR2	HP:0004633	Lower thoracic kyphosis	-	OMIM:602875
4882	NPR2	HP:0003302	Spondylolisthesis	-	OMIM:154700
4882	NPR2	HP:0003300	Ovoid vertebral bodies	-	OMIM:602875
4882	NPR2	HP:0003300	Ovoid vertebral bodies	HP:0040282	ORPHA:40
4882	NPR2	HP:0002097	Emphysema	8/9	OMIM:130050
4882	NPR2	HP:0002097	Emphysema	HP:0040283	OMIM:154700
4882	NPR2	HP:0030961	Microspherophakia	2/53	OMIM:154700
4882	NPR2	HP:0003388	Easy fatigability	36/76	OMIM:131300
4882	NPR2	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
4882	NPR2	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
4882	NPR2	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
4882	NPR2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4882	NPR2	HP:0010499	Patellar subluxation	12/22	OMIM:121050
4882	NPR2	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
4882	NPR2	HP:0002140	Ischemic stroke	-	OMIM:208050
4882	NPR2	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
4882	NPR2	HP:0002107	Pneumothorax	2/2	OMIM:130050
4882	NPR2	HP:0002107	Pneumothorax	6/53	OMIM:154700
4882	NPR2	HP:0002105	Hemoptysis	6/10	OMIM:130050
4882	NPR2	HP:0003498	Disproportionate short stature	HP:0040282	ORPHA:40
4882	NPR2	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
4882	NPR2	HP:0003593	Infantile onset	5/16	OMIM:208050
4882	NPR2	HP:0003577	Congenital onset	5/5	OMIM:121050
4882	NPR2	HP:0003577	Congenital onset	1/1	OMIM:615923
4882	NPR2	HP:0003577	Congenital onset	12/26	OMIM:208050
4882	NPR2	HP:0100718	Uterine rupture	-	OMIM:130050
4882	NPR2	HP:0004872	Incisional hernia	-	OMIM:154700
4882	NPR2	HP:0100775	Dural ectasia	112/140	OMIM:154700
4882	NPR2	HP:0100749	Chest pain	1/2	OMIM:130050
4882	NPR2	HP:0002293	Alopecia of scalp	-	OMIM:130050
4882	NPR2	HP:0034671	Knee contracture	7/14	OMIM:121050
4882	NPR2	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
4882	NPR2	HP:0010648	Dermal translucency	3/3	OMIM:130050
4882	NPR2	HP:0010639	Elevated alkaline phosphatase of bone origin	1/1	OMIM:615923
4882	NPR2	HP:0003510	Severe short stature	7/7	OMIM:615777
4882	NPR2	HP:0003508	Proportionate short stature	16/16	OMIM:616255
4882	NPR2	HP:0007099	Chiari type I malformation	-	OMIM:182212
4882	NPR2	HP:0025019	Arterial rupture	-	OMIM:130050
4882	NPR2	HP:0001065	Striae distensae	11/53	OMIM:154700
4882	NPR2	HP:0001030	Fragile skin	-	OMIM:130050
4882	NPR2	HP:0001027	Soft, doughy skin	-	OMIM:208050
4882	NPR2	HP:0002315	Headache	-	OMIM:131300
4882	NPR2	HP:0004976	Knee dislocation	6/7	OMIM:615777
4882	NPR2	HP:0100645	Cystocele	-	OMIM:130050
4882	NPR2	HP:0001073	Cigarette-paper scars	-	OMIM:130050
4882	NPR2	HP:0009803	Short phalanx of finger	20/20	OMIM:602875
4882	NPR2	HP:0009803	Short phalanx of finger	-	OMIM:615777
4882	NPR2	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
4882	NPR2	HP:0001083	Ectopia lentis	119/251	OMIM:154700
4882	NPR2	HP:0008484	Thoracolumbar interpediculate narrowness	-	OMIM:602875
4882	NPR2	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
4882	NPR2	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
4882	NPR2	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
4882	NPR2	HP:0010743	Short metatarsal	-	OMIM:602875
4882	NPR2	HP:0009763	Limb pain	63/92	OMIM:131300
4882	NPR2	HP:0008422	Vertebral wedging	HP:0040282	ORPHA:40
4882	NPR2	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
4882	NPR2	HP:0003623	Neonatal onset	3/16	OMIM:208050
4882	NPR2	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
4882	NPR2	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
4882	NPR2	HP:0003621	Juvenile onset	-	OMIM:131300
4882	NPR2	HP:0003621	Juvenile onset	2/16	OMIM:208050
4882	NPR2	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
4882	NPR2	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
4882	NPR2	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
4882	NPR2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4882	NPR2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4882	NPR2	HP:6001056	Out-toeing	-	OMIM:131300
4882	NPR2	HP:0000651	Diplopia	-	OMIM:131300
4882	NPR2	HP:0001977	Abnormal thrombosis	-	OMIM:208050
4882	NPR2	HP:0001956	Truncal obesity	2/7	OMIM:615777
4882	NPR2	HP:0001903	Anemia	1/1	OMIM:130050
4882	NPR2	HP:0001903	Anemia	HP:0040283	OMIM:131300
4882	NPR2	HP:0010049	Short metacarpal	-	OMIM:615777
4882	NPR2	HP:0010049	Short metacarpal	-	OMIM:602875
4882	NPR2	HP:0010055	Broad hallux	1/1	OMIM:615923
4882	NPR2	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
4882	NPR2	HP:0000678	Dental crowding	8/53	OMIM:154700
4882	NPR2	HP:0000678	Dental crowding	-	OMIM:615777
4882	NPR2	HP:0000689	Dental malocclusion	-	OMIM:182212
4882	NPR2	HP:0000670	Carious teeth	-	OMIM:131300
4882	NPR2	HP:0011304	Broad thumb	2/7	OMIM:615777
4882	NPR2	HP:0000668	Hypodontia	-	OMIM:615777
4882	NPR2	HP:0000664	Synophrys	-	OMIM:615777
4882	NPR2	HP:0004322	Short stature	-	OMIM:130050
4882	NPR2	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
4882	NPR2	HP:0005619	Thoracolumbar kyphosis	-	OMIM:602875
4882	NPR2	HP:0003088	Premature osteoarthritis	-	OMIM:154700
4882	NPR2	HP:0003086	Acromesomelia	9/9	OMIM:602875
4882	NPR2	HP:0003086	Acromesomelia	HP:0040282	ORPHA:40
4882	NPR2	HP:0003083	Dislocated radial head	5/37	OMIM:182212
4882	NPR2	HP:0003066	Limited knee extension	38/45	OMIM:121050
4882	NPR2	HP:0004396	Poor appetite	-	OMIM:131300
4882	NPR2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4882	NPR2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4882	NPR2	HP:0003042	Elbow dislocation	1/12	OMIM:121050
4882	NPR2	HP:0003015	Flared metaphysis	-	OMIM:602875
4882	NPR2	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
4882	NPR2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4882	NPR2	HP:0003026	Short long bone	7/7	OMIM:615777
4882	NPR2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4882	NPR2	HP:0005684	Distal arthrogryposis	-	OMIM:121050
4882	NPR2	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
4882	NPR2	HP:0000767	Pectus excavatum	2/14	OMIM:121050
4882	NPR2	HP:0000767	Pectus excavatum	1/4	OMIM:130050
4882	NPR2	HP:0000767	Pectus excavatum	3/15	OMIM:208050
4882	NPR2	HP:0000767	Pectus excavatum	44/146	OMIM:154700
4882	NPR2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4882	NPR2	HP:0000767	Pectus excavatum	-	OMIM:182212
4882	NPR2	HP:0000768	Pectus carinatum	4/14	OMIM:121050
4882	NPR2	HP:0000768	Pectus carinatum	2/15	OMIM:208050
4882	NPR2	HP:0000768	Pectus carinatum	58/146	OMIM:154700
4882	NPR2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4882	NPR2	HP:0000768	Pectus carinatum	-	OMIM:182212
4882	NPR2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4882	NPR2	HP:0000750	Delayed speech and language development	-	OMIM:615777
4882	NPR2	HP:0000704	Periodontitis	-	OMIM:130050
4882	NPR2	HP:0011463	Childhood onset	1/16	OMIM:208050
4882	NPR2	HP:0011462	Young adult onset	3/16	OMIM:208050
4882	NPR2	HP:0011461	Fetal onset	7/7	OMIM:615777
4882	NPR2	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
4882	NPR2	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
4882	NPR2	HP:0000774	Narrow chest	2/7	OMIM:615777
4882	NPR2	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
4882	NPR2	HP:0005769	Fifth finger distal phalanx clinodactyly	1/1	OMIM:615923
4882	NPR2	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
4882	NPR2	HP:0030799	Scaphocephaly	-	OMIM:121050
4882	NPR2	HP:0003199	Decreased muscle mass	-	OMIM:154700
4882	NPR2	HP:0003196	Short nose	-	OMIM:602875
4882	NPR2	HP:0000912	Sprengel anomaly	HP:0040282	ORPHA:40
4882	NPR2	HP:0000926	Platyspondyly	1/7	OMIM:615777
4882	NPR2	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
4882	NPR2	HP:0003180	Flat acetabular roof	-	OMIM:615777
4882	NPR2	HP:0004482	Relative macrocephaly	-	OMIM:615777
4882	NPR2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4882	NPR2	HP:0000883	Thin ribs	-	OMIM:182212
4882	NPR2	HP:0000822	Hypertension	-	OMIM:208050
4882	NPR2	HP:0000823	Delayed puberty	-	OMIM:131300
4882	NPR2	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	-	OMIM:602875
4882	NPR2	HP:0000895	Lateral clavicle hook	-	OMIM:182212
4882	NPR2	HP:0000894	Short clavicles	-	OMIM:615777
4882	NPR2	HP:0004568	Beaking of vertebral bodies	-	OMIM:602875
4882	NPR2	HP:0004568	Beaking of vertebral bodies	HP:0040282	ORPHA:40
4882	NPR2	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
4882	NPR2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4882	NPR2	HP:0034391	Elbow contracture	10/14	OMIM:121050
4882	NPR2	HP:0003273	Hip contracture	32/121	OMIM:121050
4882	NPR2	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
4882	NPR2	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
4882	NPR2	HP:0000978	Bruising susceptibility	-	OMIM:208050
4882	NPR2	HP:0000977	Soft skin	7/15	OMIM:208050
4882	NPR2	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
4882	NPR2	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
4882	NPR2	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
4882	NPR2	HP:0000973	Cutis laxa	5/14	OMIM:208050
4882	NPR2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4882	NPR2	HP:0000963	Thin skin	4/13	OMIM:208050
4882	NPR2	HP:0000938	Osteopenia	-	OMIM:121050
4882	NPR2	HP:0000938	Osteopenia	1/1	OMIM:615923
4882	NPR2	HP:0000938	Osteopenia	-	OMIM:182212
4882	NPR2	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
4882	NPR2	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
4882	NPR2	HP:0000286	Epicanthus	1/7	OMIM:615777
4882	NPR2	HP:0025586	Hypertropia	8/573	OMIM:154700
4882	NPR2	HP:0000280	Coarse facial features	2/7	OMIM:615777
4882	NPR2	HP:0000278	Retrognathia	-	OMIM:154700
4882	NPR2	HP:0000260	Wide anterior fontanel	-	OMIM:182212
4882	NPR2	HP:0000275	Narrow face	-	OMIM:154700
4882	NPR2	HP:0000276	Long face	14/14	OMIM:208050
4882	NPR2	HP:0000276	Long face	-	OMIM:154700
4882	NPR2	HP:0000272	Malar flattening	9/14	OMIM:208050
4882	NPR2	HP:0000272	Malar flattening	31/53	OMIM:154700
4882	NPR2	HP:0000268	Dolichocephaly	-	OMIM:121050
4882	NPR2	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:40
4882	NPR2	HP:0000268	Dolichocephaly	36/53	OMIM:154700
4882	NPR2	HP:0000268	Dolichocephaly	28/37	OMIM:182212
4882	NPR2	HP:0005136	Mitral annular calcification	-	OMIM:154700
4882	NPR2	HP:0002816	Genu recurvatum	-	OMIM:182212
4882	NPR2	HP:0002816	Genu recurvatum	-	OMIM:154700
4882	NPR2	HP:0002827	Hip dislocation	3/7	OMIM:615777
4882	NPR2	HP:0002808	Kyphosis	HP:0040282	ORPHA:40
4882	NPR2	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
4882	NPR2	HP:0000244	Brachyturricephaly	-	OMIM:182212
4882	NPR2	HP:0000238	Hydrocephalus	13/37	OMIM:182212
4882	NPR2	HP:0000252	Microcephaly	-	OMIM:615777
4882	NPR2	HP:0000252	Microcephaly	6/37	OMIM:182212
4882	NPR2	HP:0000248	Brachycephaly	-	OMIM:121050
4882	NPR2	HP:0000218	High palate	34/53	OMIM:154700
4882	NPR2	HP:0000218	High palate	30/102	OMIM:121050
4882	NPR2	HP:0000218	High palate	5/13	OMIM:208050
4882	NPR2	HP:0000218	High palate	30/37	OMIM:182212
4882	NPR2	HP:0000233	Thin vermilion border	-	OMIM:130050
4882	NPR2	HP:0030009	Cervical insufficiency	-	OMIM:130050
4882	NPR2	HP:0002857	Genu valgum	-	OMIM:131300
4882	NPR2	HP:0002857	Genu valgum	4/37	OMIM:182212
4882	NPR2	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
4882	NPR2	HP:0001537	Umbilical hernia	-	OMIM:208050
4882	NPR2	HP:0001537	Umbilical hernia	13/37	OMIM:182212
4882	NPR2	HP:0001533	Slender build	-	OMIM:131300
4882	NPR2	HP:0031364	Ecchymosis	-	OMIM:130050
4882	NPR2	HP:0001500	Broad finger	-	OMIM:602875
4882	NPR2	HP:0001519	Disproportionate tall stature	-	OMIM:121050
4882	NPR2	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
4882	NPR2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4882	NPR2	HP:0007807	Optic nerve compression	-	OMIM:131300
4882	NPR2	HP:0007800	Increased axial length of the globe	-	OMIM:154700
4882	NPR2	HP:0012385	Camptodactyly	86/110	OMIM:121050
4882	NPR2	HP:0012385	Camptodactyly	19/53	OMIM:154700
4882	NPR2	HP:0012385	Camptodactyly	24/37	OMIM:182212
4882	NPR2	HP:0000387	Absent earlobe	-	OMIM:130050
4882	NPR2	HP:0012368	Flat face	7/7	OMIM:615777
4882	NPR2	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
4882	NPR2	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
4882	NPR2	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
4882	NPR2	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
4882	NPR2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4882	NPR2	HP:0002938	Lumbar hyperlordosis	-	OMIM:602875
4882	NPR2	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
4882	NPR2	HP:0006480	Premature loss of teeth	-	OMIM:130050
4882	NPR2	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
4882	NPR2	HP:0006487	Bowing of the long bones	HP:0040282	ORPHA:40
4882	NPR2	HP:0000365	Hearing impairment	10/67	OMIM:131300
4882	NPR2	HP:0031424	Abnormal circulating beta-C-terminal telopeptide concentration	1/1	OMIM:615923
4882	NPR2	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
4882	NPR2	HP:0000369	Low-set ears	32/37	OMIM:182212
4882	NPR2	HP:0000343	Long philtrum	-	OMIM:208050
4882	NPR2	HP:0000343	Long philtrum	1/7	OMIM:615777
4882	NPR2	HP:0011001	Increased bone mineral density	-	OMIM:131300
4882	NPR2	HP:0002999	Patellar dislocation	2/20	OMIM:121050
4882	NPR2	HP:0000347	Micrognathia	-	OMIM:154700
4882	NPR2	HP:0000347	Micrognathia	26/94	OMIM:121050
4882	NPR2	HP:0000347	Micrognathia	5/14	OMIM:208050
4882	NPR2	HP:0000347	Micrognathia	33/37	OMIM:182212
4882	NPR2	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
4882	NPR2	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
4882	NPR2	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
4882	NPR2	HP:0000316	Hypertelorism	6/16	OMIM:208050
4882	NPR2	HP:0000316	Hypertelorism	28/37	OMIM:182212
4882	NPR2	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
4882	NPR2	HP:0000311	Round face	2/7	OMIM:615777
4882	NPR2	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
4882	NPR2	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
4882	NPR2	HP:0001659	Aortic regurgitation	-	OMIM:208050
4882	NPR2	HP:0002986	Radial bowing	-	OMIM:602875
4882	NPR2	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
4882	NPR2	HP:0001653	Mitral regurgitation	-	OMIM:121050
4882	NPR2	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
4882	NPR2	HP:0002984	Hypoplasia of the radius	-	OMIM:602875
4882	NPR2	HP:0001629	Ventricular septal defect	-	OMIM:121050
4882	NPR2	HP:0002970	Genu varum	-	OMIM:615777
4882	NPR2	HP:0001635	Congestive heart failure	-	OMIM:154700
4882	NPR2	HP:0001631	Atrial septal defect	-	OMIM:121050
4882	NPR2	HP:0000303	Mandibular prognathia	-	OMIM:131300
4882	NPR2	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
4882	NPR2	HP:0001634	Mitral valve prolapse	-	OMIM:130050
4882	NPR2	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
4882	NPR2	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
4882	NPR2	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
4882	NPR2	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
4882	NPR2	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
4882	NPR2	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
4882	NPR2	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
4882	NPR2	HP:0000400	Macrotia	7/15	OMIM:208050
4882	NPR2	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
4882	NPR2	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
4882	NPR2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:40
4882	NPR2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4882	NPR2	HP:0000483	Astigmatism	3/53	OMIM:154700
4882	NPR2	HP:0000483	Astigmatism	5/15	OMIM:208050
4882	NPR2	HP:0000486	Strabismus	110/573	OMIM:154700
4882	NPR2	HP:0000486	Strabismus	17/37	OMIM:182212
4882	NPR2	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
4882	NPR2	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
4882	NPR2	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
4882	NPR2	HP:0000490	Deeply set eye	25/63	OMIM:154700
4882	NPR2	HP:0000463	Anteverted nares	9/37	OMIM:182212
4882	NPR2	HP:0001786	Narrow foot	33/53	OMIM:154700
4882	NPR2	HP:0000470	Short neck	-	OMIM:121050
4882	NPR2	HP:0000470	Short neck	1/7	OMIM:615777
4882	NPR2	HP:0001799	Short nail	-	OMIM:602875
4882	NPR2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4882	NPR2	HP:0001763	Pes planus	27/53	OMIM:154700
4882	NPR2	HP:0001763	Pes planus	1/7	OMIM:615777
4882	NPR2	HP:0001763	Pes planus	-	OMIM:182212
4882	NPR2	HP:0001765	Hammertoe	-	OMIM:154700
4882	NPR2	HP:0001783	Broad metatarsal	-	OMIM:602875
4882	NPR2	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
4882	NPR2	HP:0000418	Narrow nasal ridge	-	OMIM:130050
4882	NPR2	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
4882	NPR2	HP:0001762	Talipes equinovarus	-	OMIM:130050
4882	NPR2	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
4882	NPR2	HP:0001761	Pes cavus	49/146	OMIM:154700
4882	NPR2	HP:0000518	Cataract	118/199	OMIM:154700
4882	NPR2	HP:0001847	Long hallux	-	OMIM:602875
4882	NPR2	HP:0001847	Long hallux	1/1	OMIM:615923
4882	NPR2	HP:0001840	Metatarsus adductus	-	OMIM:121050
4882	NPR2	HP:0001840	Metatarsus adductus	-	OMIM:182212
4882	NPR2	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
4882	NPR2	HP:0001840	Metatarsus adductus	-	OMIM:615777
4882	NPR2	HP:0001842	Foot acroosteolysis	-	OMIM:130050
4882	NPR2	HP:0000520	Proptosis	2/4	OMIM:131300
4882	NPR2	HP:0000520	Proptosis	7/7	OMIM:615777
4882	NPR2	HP:0000520	Proptosis	29/37	OMIM:182212
4882	NPR2	HP:0000506	Telecanthus	-	OMIM:182212
4882	NPR2	HP:0000508	Ptosis	16/37	OMIM:182212
4882	NPR2	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
4882	NPR2	HP:0000501	Glaucoma	29/625	OMIM:154700
4882	NPR2	HP:0001831	Short toe	20/20	OMIM:602875
4882	NPR2	HP:0000581	Blepharophimosis	-	OMIM:208050
4882	NPR2	HP:0000577	Exotropia	72/626	OMIM:154700
4882	NPR2	HP:0000592	Blue sclerae	2/7	OMIM:615777
4882	NPR2	HP:0000586	Shallow orbits	13/37	OMIM:182212
4882	NPR2	HP:0000563	Keratoconus	-	OMIM:130050
4882	NPR2	HP:0000563	Keratoconus	3/14	OMIM:208050
4882	NPR2	HP:0011220	Prominent forehead	HP:0040282	ORPHA:40
4882	NPR2	HP:0011220	Prominent forehead	-	OMIM:602875
4882	NPR2	HP:0011220	Prominent forehead	17/37	OMIM:182212
4882	NPR2	HP:0000565	Esotropia	12/573	OMIM:154700
4882	NPR2	HP:0000541	Retinal detachment	-	OMIM:154700
4882	NPR2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4882	NPR2	HP:0001883	Talipes	13/53	OMIM:154700
4882	NPR2	HP:0012514	Lower limb pain	4/4	OMIM:131300
4882	NPR2	HP:0000545	Myopia	-	OMIM:121050
4882	NPR2	HP:0000545	Myopia	6/15	OMIM:208050
4882	NPR2	HP:0000545	Myopia	93/251	OMIM:154700
4882	NPR2	HP:0000545	Myopia	9/37	OMIM:182212
4883	NPR3	HP:0009901	Crumpled ear	90/119	OMIM:121050
4883	NPR3	HP:0001181	Adducted thumb	42/90	OMIM:121050
4883	NPR3	HP:0001166	Arachnodactyly	104/124	OMIM:121050
4883	NPR3	HP:0001166	Arachnodactyly	124/197	OMIM:154700
4883	NPR3	HP:0001166	Arachnodactyly	34/37	OMIM:182212
4883	NPR3	HP:0001166	Arachnodactyly	6/15	OMIM:208050
4883	NPR3	HP:0001166	Arachnodactyly	1/4	OMIM:619543
4883	NPR3	HP:0003745	Sporadic	-	OMIM:182212
4883	NPR3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
4883	NPR3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4883	NPR3	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
4883	NPR3	HP:0001293	Cranial nerve compression	-	OMIM:131300
4883	NPR3	HP:0001290	Generalized hypotonia	-	OMIM:208050
4883	NPR3	HP:0001290	Generalized hypotonia	-	OMIM:182212
4883	NPR3	HP:0100807	Long fingers	2/4	OMIM:619543
4883	NPR3	HP:0001270	Motor delay	-	OMIM:121050
4883	NPR3	HP:0001288	Gait disturbance	1/4	OMIM:619543
4883	NPR3	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
4883	NPR3	HP:0001252	Hypotonia	2/7	OMIM:615777
4883	NPR3	HP:0001252	Hypotonia	26/37	OMIM:182212
4883	NPR3	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
4883	NPR3	HP:0001249	Intellectual disability	5/7	OMIM:615777
4883	NPR3	HP:0001249	Intellectual disability	-	OMIM:182212
4883	NPR3	HP:0001263	Global developmental delay	-	OMIM:615777
4883	NPR3	HP:0001263	Global developmental delay	-	OMIM:182212
4883	NPR3	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
4883	NPR3	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
4883	NPR3	HP:0002515	Waddling gait	54/102	OMIM:131300
4883	NPR3	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
4883	NPR3	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
4883	NPR3	HP:0000098	Tall stature	-	OMIM:154700
4883	NPR3	HP:0000098	Tall stature	4/4	OMIM:619543
4883	NPR3	HP:0001377	Limited elbow extension	94/109	OMIM:121050
4883	NPR3	HP:0001377	Limited elbow extension	29/199	OMIM:154700
4883	NPR3	HP:0001371	Flexion contracture	-	OMIM:208050
4883	NPR3	HP:0001371	Flexion contracture	-	OMIM:154700
4883	NPR3	HP:0001382	Joint hypermobility	3/4	OMIM:619543
4883	NPR3	HP:0001382	Joint hypermobility	1/1	OMIM:130050
4883	NPR3	HP:0001382	Joint hypermobility	12/14	OMIM:208050
4883	NPR3	HP:0001382	Joint hypermobility	11/53	OMIM:154700
4883	NPR3	HP:0001382	Joint hypermobility	-	OMIM:615777
4883	NPR3	HP:0001382	Joint hypermobility	31/47	OMIM:182212
4883	NPR3	HP:0000023	Inguinal hernia	11/11	OMIM:130050
4883	NPR3	HP:0000023	Inguinal hernia	8/15	OMIM:208050
4883	NPR3	HP:0000023	Inguinal hernia	19/34	OMIM:182212
4883	NPR3	HP:0001363	Craniosynostosis	18/37	OMIM:182212
4883	NPR3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4883	NPR3	HP:0000028	Cryptorchidism	1/1	OMIM:130050
4883	NPR3	HP:0000028	Cryptorchidism	1/13	OMIM:182212
4883	NPR3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4883	NPR3	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
4883	NPR3	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
4883	NPR3	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
4883	NPR3	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
4883	NPR3	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
4883	NPR3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4883	NPR3	HP:0001324	Muscle weakness	40/96	OMIM:131300
4883	NPR3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4883	NPR3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619543
4883	NPR3	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
4883	NPR3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4883	NPR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
4883	NPR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
4883	NPR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
4883	NPR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4883	NPR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
4883	NPR3	HP:0002650	Scoliosis	16/53	OMIM:154700
4883	NPR3	HP:0002650	Scoliosis	11/15	OMIM:121050
4883	NPR3	HP:0002650	Scoliosis	12/14	OMIM:131300
4883	NPR3	HP:0002650	Scoliosis	3/15	OMIM:208050
4883	NPR3	HP:0002650	Scoliosis	23/37	OMIM:182212
4883	NPR3	HP:0002647	Aortic dissection	1/58	OMIM:154700
4883	NPR3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4883	NPR3	HP:0002619	Varicose veins	-	OMIM:130050
4883	NPR3	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
4883	NPR3	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
4883	NPR3	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
4883	NPR3	HP:0002616	Aortic root aneurysm	2/4	OMIM:619543
4883	NPR3	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
4883	NPR3	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
4883	NPR3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4883	NPR3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4883	NPR3	HP:0000189	Narrow palate	-	OMIM:182212
4883	NPR3	HP:0000189	Narrow palate	-	OMIM:154700
4883	NPR3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4883	NPR3	HP:0000193	Bifid uvula	0/14	OMIM:208050
4883	NPR3	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
4883	NPR3	HP:0012151	Hemothorax	3/4	OMIM:130050
4883	NPR3	HP:0000175	Cleft palate	2/7	OMIM:615777
4883	NPR3	HP:0000139	Uterine prolapse	-	OMIM:130050
4883	NPR3	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
4883	NPR3	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
4883	NPR3	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
4883	NPR3	HP:0032524	Long thumb	1/4	OMIM:619543
4883	NPR3	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
4883	NPR3	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
4883	NPR3	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
4883	NPR3	HP:0002036	Hiatus hernia	-	OMIM:208050
4883	NPR3	HP:0002007	Frontal bossing	-	OMIM:121050
4883	NPR3	HP:0002007	Frontal bossing	-	OMIM:182212
4883	NPR3	HP:0003302	Spondylolisthesis	-	OMIM:154700
4883	NPR3	HP:0002097	Emphysema	8/9	OMIM:130050
4883	NPR3	HP:0002097	Emphysema	HP:0040283	OMIM:154700
4883	NPR3	HP:0030961	Microspherophakia	2/53	OMIM:154700
4883	NPR3	HP:0003388	Easy fatigability	36/76	OMIM:131300
4883	NPR3	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
4883	NPR3	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
4883	NPR3	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
4883	NPR3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4883	NPR3	HP:0010499	Patellar subluxation	12/22	OMIM:121050
4883	NPR3	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
4883	NPR3	HP:0002140	Ischemic stroke	-	OMIM:208050
4883	NPR3	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
4883	NPR3	HP:0002107	Pneumothorax	2/2	OMIM:130050
4883	NPR3	HP:0002107	Pneumothorax	6/53	OMIM:154700
4883	NPR3	HP:0002105	Hemoptysis	6/10	OMIM:130050
4883	NPR3	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
4883	NPR3	HP:0010511	Long toe	1/4	OMIM:619543
4883	NPR3	HP:0003593	Infantile onset	5/16	OMIM:208050
4883	NPR3	HP:0003577	Congenital onset	5/5	OMIM:121050
4883	NPR3	HP:0003577	Congenital onset	12/26	OMIM:208050
4883	NPR3	HP:0100718	Uterine rupture	-	OMIM:130050
4883	NPR3	HP:0004872	Incisional hernia	-	OMIM:154700
4883	NPR3	HP:0100775	Dural ectasia	112/140	OMIM:154700
4883	NPR3	HP:0100749	Chest pain	1/2	OMIM:130050
4883	NPR3	HP:0002293	Alopecia of scalp	-	OMIM:130050
4883	NPR3	HP:0034671	Knee contracture	7/14	OMIM:121050
4883	NPR3	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
4883	NPR3	HP:0010648	Dermal translucency	3/3	OMIM:130050
4883	NPR3	HP:0010639	Elevated alkaline phosphatase of bone origin	1/4	OMIM:619543
4883	NPR3	HP:0003510	Severe short stature	7/7	OMIM:615777
4883	NPR3	HP:0007099	Chiari type I malformation	-	OMIM:182212
4883	NPR3	HP:0025019	Arterial rupture	-	OMIM:130050
4883	NPR3	HP:0001065	Striae distensae	11/53	OMIM:154700
4883	NPR3	HP:0001030	Fragile skin	-	OMIM:130050
4883	NPR3	HP:0001027	Soft, doughy skin	-	OMIM:208050
4883	NPR3	HP:0002315	Headache	-	OMIM:131300
4883	NPR3	HP:0004976	Knee dislocation	6/7	OMIM:615777
4883	NPR3	HP:0100645	Cystocele	-	OMIM:130050
4883	NPR3	HP:0001073	Cigarette-paper scars	-	OMIM:130050
4883	NPR3	HP:0009803	Short phalanx of finger	-	OMIM:615777
4883	NPR3	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
4883	NPR3	HP:0001083	Ectopia lentis	119/251	OMIM:154700
4883	NPR3	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
4883	NPR3	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
4883	NPR3	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
4883	NPR3	HP:0009763	Limb pain	63/92	OMIM:131300
4883	NPR3	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
4883	NPR3	HP:0003623	Neonatal onset	3/16	OMIM:208050
4883	NPR3	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
4883	NPR3	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
4883	NPR3	HP:0003621	Juvenile onset	-	OMIM:131300
4883	NPR3	HP:0003621	Juvenile onset	2/16	OMIM:208050
4883	NPR3	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
4883	NPR3	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
4883	NPR3	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
4883	NPR3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4883	NPR3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4883	NPR3	HP:6001056	Out-toeing	-	OMIM:131300
4883	NPR3	HP:0000651	Diplopia	-	OMIM:131300
4883	NPR3	HP:0001977	Abnormal thrombosis	-	OMIM:208050
4883	NPR3	HP:0001956	Truncal obesity	2/7	OMIM:615777
4883	NPR3	HP:0001903	Anemia	1/1	OMIM:130050
4883	NPR3	HP:0001903	Anemia	HP:0040283	OMIM:131300
4883	NPR3	HP:0010049	Short metacarpal	-	OMIM:615777
4883	NPR3	HP:0010022	Pseudoepiphysis of the 1st metacarpal	4/4	OMIM:619543
4883	NPR3	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
4883	NPR3	HP:0000678	Dental crowding	8/53	OMIM:154700
4883	NPR3	HP:0000678	Dental crowding	-	OMIM:615777
4883	NPR3	HP:0000689	Dental malocclusion	-	OMIM:182212
4883	NPR3	HP:0000670	Carious teeth	-	OMIM:131300
4883	NPR3	HP:0011304	Broad thumb	2/7	OMIM:615777
4883	NPR3	HP:0000668	Hypodontia	-	OMIM:615777
4883	NPR3	HP:0000664	Synophrys	-	OMIM:615777
4883	NPR3	HP:0004322	Short stature	-	OMIM:130050
4883	NPR3	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
4883	NPR3	HP:0003088	Premature osteoarthritis	-	OMIM:154700
4883	NPR3	HP:0003083	Dislocated radial head	5/37	OMIM:182212
4883	NPR3	HP:0003066	Limited knee extension	38/45	OMIM:121050
4883	NPR3	HP:0004396	Poor appetite	-	OMIM:131300
4883	NPR3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4883	NPR3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4883	NPR3	HP:0003042	Elbow dislocation	1/12	OMIM:121050
4883	NPR3	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
4883	NPR3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4883	NPR3	HP:0003026	Short long bone	7/7	OMIM:615777
4883	NPR3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4883	NPR3	HP:0005684	Distal arthrogryposis	-	OMIM:121050
4883	NPR3	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
4883	NPR3	HP:0000767	Pectus excavatum	2/14	OMIM:121050
4883	NPR3	HP:0000767	Pectus excavatum	1/4	OMIM:619543
4883	NPR3	HP:0000767	Pectus excavatum	1/4	OMIM:130050
4883	NPR3	HP:0000767	Pectus excavatum	3/15	OMIM:208050
4883	NPR3	HP:0000767	Pectus excavatum	44/146	OMIM:154700
4883	NPR3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4883	NPR3	HP:0000767	Pectus excavatum	-	OMIM:182212
4883	NPR3	HP:0000768	Pectus carinatum	4/14	OMIM:121050
4883	NPR3	HP:0000768	Pectus carinatum	2/15	OMIM:208050
4883	NPR3	HP:0000768	Pectus carinatum	58/146	OMIM:154700
4883	NPR3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4883	NPR3	HP:0000768	Pectus carinatum	-	OMIM:182212
4883	NPR3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4883	NPR3	HP:0000750	Delayed speech and language development	-	OMIM:615777
4883	NPR3	HP:0000704	Periodontitis	-	OMIM:130050
4883	NPR3	HP:0011463	Childhood onset	1/16	OMIM:208050
4883	NPR3	HP:0011462	Young adult onset	3/16	OMIM:208050
4883	NPR3	HP:0011461	Fetal onset	7/7	OMIM:615777
4883	NPR3	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
4883	NPR3	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
4883	NPR3	HP:0000774	Narrow chest	2/7	OMIM:615777
4883	NPR3	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
4883	NPR3	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
4883	NPR3	HP:0030771	Mallet finger	1/4	OMIM:619543
4883	NPR3	HP:0030799	Scaphocephaly	-	OMIM:121050
4883	NPR3	HP:0003199	Decreased muscle mass	-	OMIM:154700
4883	NPR3	HP:0000926	Platyspondyly	1/7	OMIM:615777
4883	NPR3	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
4883	NPR3	HP:0003180	Flat acetabular roof	-	OMIM:615777
4883	NPR3	HP:0004482	Relative macrocephaly	-	OMIM:615777
4883	NPR3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4883	NPR3	HP:0000883	Thin ribs	-	OMIM:182212
4883	NPR3	HP:0000822	Hypertension	-	OMIM:208050
4883	NPR3	HP:0000823	Delayed puberty	-	OMIM:131300
4883	NPR3	HP:0010275	Pseudoepiphyses of the proximal phalanges of the hand	4/4	OMIM:619543
4883	NPR3	HP:0010264	Pseudoepiphyses of the middle phalanges of the hand	4/4	OMIM:619543
4883	NPR3	HP:0000895	Lateral clavicle hook	-	OMIM:182212
4883	NPR3	HP:0000894	Short clavicles	-	OMIM:615777
4883	NPR3	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
4883	NPR3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4883	NPR3	HP:0034391	Elbow contracture	10/14	OMIM:121050
4883	NPR3	HP:0003273	Hip contracture	32/121	OMIM:121050
4883	NPR3	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
4883	NPR3	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
4883	NPR3	HP:0000978	Bruising susceptibility	-	OMIM:208050
4883	NPR3	HP:0000977	Soft skin	7/15	OMIM:208050
4883	NPR3	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
4883	NPR3	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
4883	NPR3	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
4883	NPR3	HP:0000973	Cutis laxa	5/14	OMIM:208050
4883	NPR3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4883	NPR3	HP:0000963	Thin skin	4/13	OMIM:208050
4883	NPR3	HP:0000938	Osteopenia	-	OMIM:121050
4883	NPR3	HP:0000938	Osteopenia	-	OMIM:182212
4883	NPR3	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
4883	NPR3	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
4883	NPR3	HP:0000286	Epicanthus	1/7	OMIM:615777
4883	NPR3	HP:0025586	Hypertropia	8/573	OMIM:154700
4883	NPR3	HP:0000280	Coarse facial features	2/7	OMIM:615777
4883	NPR3	HP:0000278	Retrognathia	-	OMIM:154700
4883	NPR3	HP:0000260	Wide anterior fontanel	-	OMIM:182212
4883	NPR3	HP:0000275	Narrow face	-	OMIM:154700
4883	NPR3	HP:0000276	Long face	14/14	OMIM:208050
4883	NPR3	HP:0000276	Long face	-	OMIM:154700
4883	NPR3	HP:0000272	Malar flattening	9/14	OMIM:208050
4883	NPR3	HP:0000272	Malar flattening	1/4	OMIM:619543
4883	NPR3	HP:0000272	Malar flattening	31/53	OMIM:154700
4883	NPR3	HP:0000268	Dolichocephaly	-	OMIM:121050
4883	NPR3	HP:0000268	Dolichocephaly	36/53	OMIM:154700
4883	NPR3	HP:0000268	Dolichocephaly	28/37	OMIM:182212
4883	NPR3	HP:0005136	Mitral annular calcification	-	OMIM:154700
4883	NPR3	HP:0002816	Genu recurvatum	-	OMIM:182212
4883	NPR3	HP:0002816	Genu recurvatum	-	OMIM:154700
4883	NPR3	HP:0002827	Hip dislocation	3/7	OMIM:615777
4883	NPR3	HP:0030084	Clinodactyly	1/4	OMIM:619543
4883	NPR3	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
4883	NPR3	HP:0000244	Brachyturricephaly	-	OMIM:182212
4883	NPR3	HP:0000238	Hydrocephalus	13/37	OMIM:182212
4883	NPR3	HP:0000252	Microcephaly	-	OMIM:615777
4883	NPR3	HP:0000252	Microcephaly	6/37	OMIM:182212
4883	NPR3	HP:0000248	Brachycephaly	-	OMIM:121050
4883	NPR3	HP:0000218	High palate	34/53	OMIM:154700
4883	NPR3	HP:0000218	High palate	30/102	OMIM:121050
4883	NPR3	HP:0000218	High palate	5/13	OMIM:208050
4883	NPR3	HP:0000218	High palate	30/37	OMIM:182212
4883	NPR3	HP:0000233	Thin vermilion border	-	OMIM:130050
4883	NPR3	HP:0030009	Cervical insufficiency	-	OMIM:130050
4883	NPR3	HP:0002857	Genu valgum	-	OMIM:131300
4883	NPR3	HP:0002857	Genu valgum	4/37	OMIM:182212
4883	NPR3	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
4883	NPR3	HP:0001537	Umbilical hernia	-	OMIM:208050
4883	NPR3	HP:0001537	Umbilical hernia	13/37	OMIM:182212
4883	NPR3	HP:0001533	Slender build	-	OMIM:131300
4883	NPR3	HP:0031364	Ecchymosis	-	OMIM:130050
4883	NPR3	HP:0001519	Disproportionate tall stature	-	OMIM:121050
4883	NPR3	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
4883	NPR3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4883	NPR3	HP:0007807	Optic nerve compression	-	OMIM:131300
4883	NPR3	HP:0007800	Increased axial length of the globe	-	OMIM:154700
4883	NPR3	HP:0012385	Camptodactyly	86/110	OMIM:121050
4883	NPR3	HP:0012385	Camptodactyly	19/53	OMIM:154700
4883	NPR3	HP:0012385	Camptodactyly	24/37	OMIM:182212
4883	NPR3	HP:0000387	Absent earlobe	-	OMIM:130050
4883	NPR3	HP:0012368	Flat face	7/7	OMIM:615777
4883	NPR3	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
4883	NPR3	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
4883	NPR3	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
4883	NPR3	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
4883	NPR3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4883	NPR3	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
4883	NPR3	HP:0006480	Premature loss of teeth	-	OMIM:130050
4883	NPR3	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
4883	NPR3	HP:0000365	Hearing impairment	10/67	OMIM:131300
4883	NPR3	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
4883	NPR3	HP:0000369	Low-set ears	32/37	OMIM:182212
4883	NPR3	HP:0000343	Long philtrum	-	OMIM:208050
4883	NPR3	HP:0000343	Long philtrum	1/7	OMIM:615777
4883	NPR3	HP:0011001	Increased bone mineral density	-	OMIM:131300
4883	NPR3	HP:0002999	Patellar dislocation	2/20	OMIM:121050
4883	NPR3	HP:0000347	Micrognathia	-	OMIM:154700
4883	NPR3	HP:0000347	Micrognathia	26/94	OMIM:121050
4883	NPR3	HP:0000347	Micrognathia	5/14	OMIM:208050
4883	NPR3	HP:0000347	Micrognathia	33/37	OMIM:182212
4883	NPR3	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
4883	NPR3	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
4883	NPR3	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
4883	NPR3	HP:0000316	Hypertelorism	6/16	OMIM:208050
4883	NPR3	HP:0000316	Hypertelorism	28/37	OMIM:182212
4883	NPR3	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
4883	NPR3	HP:0000311	Round face	2/7	OMIM:615777
4883	NPR3	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
4883	NPR3	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
4883	NPR3	HP:0001659	Aortic regurgitation	-	OMIM:208050
4883	NPR3	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
4883	NPR3	HP:0001653	Mitral regurgitation	-	OMIM:121050
4883	NPR3	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
4883	NPR3	HP:0001629	Ventricular septal defect	-	OMIM:121050
4883	NPR3	HP:0002970	Genu varum	-	OMIM:615777
4883	NPR3	HP:0001635	Congestive heart failure	-	OMIM:154700
4883	NPR3	HP:0001631	Atrial septal defect	-	OMIM:121050
4883	NPR3	HP:0000303	Mandibular prognathia	-	OMIM:131300
4883	NPR3	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
4883	NPR3	HP:0001634	Mitral valve prolapse	-	OMIM:130050
4883	NPR3	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
4883	NPR3	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
4883	NPR3	HP:0001634	Mitral valve prolapse	1/4	OMIM:619543
4883	NPR3	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
4883	NPR3	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
4883	NPR3	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
4883	NPR3	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
4883	NPR3	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
4883	NPR3	HP:0000400	Macrotia	7/15	OMIM:208050
4883	NPR3	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
4883	NPR3	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
4883	NPR3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4883	NPR3	HP:0000483	Astigmatism	3/53	OMIM:154700
4883	NPR3	HP:0000483	Astigmatism	5/15	OMIM:208050
4883	NPR3	HP:0000486	Strabismus	110/573	OMIM:154700
4883	NPR3	HP:0000486	Strabismus	17/37	OMIM:182212
4883	NPR3	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
4883	NPR3	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
4883	NPR3	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
4883	NPR3	HP:0000490	Deeply set eye	25/63	OMIM:154700
4883	NPR3	HP:0000463	Anteverted nares	9/37	OMIM:182212
4883	NPR3	HP:0001786	Narrow foot	33/53	OMIM:154700
4883	NPR3	HP:0000470	Short neck	-	OMIM:121050
4883	NPR3	HP:0000470	Short neck	1/7	OMIM:615777
4883	NPR3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4883	NPR3	HP:0001763	Pes planus	1/4	OMIM:619543
4883	NPR3	HP:0001763	Pes planus	27/53	OMIM:154700
4883	NPR3	HP:0001763	Pes planus	1/7	OMIM:615777
4883	NPR3	HP:0001763	Pes planus	-	OMIM:182212
4883	NPR3	HP:0001765	Hammertoe	-	OMIM:154700
4883	NPR3	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
4883	NPR3	HP:0000418	Narrow nasal ridge	-	OMIM:130050
4883	NPR3	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
4883	NPR3	HP:0001762	Talipes equinovarus	-	OMIM:130050
4883	NPR3	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
4883	NPR3	HP:0001761	Pes cavus	49/146	OMIM:154700
4883	NPR3	HP:0000518	Cataract	118/199	OMIM:154700
4883	NPR3	HP:0001847	Long hallux	2/4	OMIM:619543
4883	NPR3	HP:0001840	Metatarsus adductus	-	OMIM:121050
4883	NPR3	HP:0001840	Metatarsus adductus	-	OMIM:182212
4883	NPR3	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
4883	NPR3	HP:0001840	Metatarsus adductus	-	OMIM:615777
4883	NPR3	HP:0001842	Foot acroosteolysis	-	OMIM:130050
4883	NPR3	HP:0000520	Proptosis	2/4	OMIM:131300
4883	NPR3	HP:0000520	Proptosis	7/7	OMIM:615777
4883	NPR3	HP:0000520	Proptosis	29/37	OMIM:182212
4883	NPR3	HP:0000506	Telecanthus	-	OMIM:182212
4883	NPR3	HP:0000508	Ptosis	16/37	OMIM:182212
4883	NPR3	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
4883	NPR3	HP:0000501	Glaucoma	29/625	OMIM:154700
4883	NPR3	HP:0000581	Blepharophimosis	-	OMIM:208050
4883	NPR3	HP:0000577	Exotropia	72/626	OMIM:154700
4883	NPR3	HP:0000592	Blue sclerae	2/7	OMIM:615777
4883	NPR3	HP:0000586	Shallow orbits	13/37	OMIM:182212
4883	NPR3	HP:0000563	Keratoconus	-	OMIM:130050
4883	NPR3	HP:0000563	Keratoconus	3/14	OMIM:208050
4883	NPR3	HP:0011220	Prominent forehead	17/37	OMIM:182212
4883	NPR3	HP:0000565	Esotropia	12/573	OMIM:154700
4883	NPR3	HP:0000541	Retinal detachment	-	OMIM:154700
4883	NPR3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4883	NPR3	HP:0001883	Talipes	13/53	OMIM:154700
4883	NPR3	HP:0012514	Lower limb pain	4/4	OMIM:131300
4883	NPR3	HP:0000545	Myopia	-	OMIM:121050
4883	NPR3	HP:0000545	Myopia	1/4	OMIM:619543
4883	NPR3	HP:0000545	Myopia	6/15	OMIM:208050
4883	NPR3	HP:0000545	Myopia	93/251	OMIM:154700
4883	NPR3	HP:0000545	Myopia	9/37	OMIM:182212
4884	NPTX1	HP:0001272	Cerebellar atrophy	5/12	OMIM:620158
4884	NPTX1	HP:0001251	Ataxia	17/17	OMIM:620158
4884	NPTX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620158
4884	NPTX1	HP:0001336	Myoclonus	4/17	OMIM:620158
4884	NPTX1	HP:0002072	Chorea	1/17	OMIM:620158
4884	NPTX1	HP:0002186	Apraxia	2/16	OMIM:620158
4884	NPTX1	HP:0002174	Postural tremor	1/17	OMIM:620158
4884	NPTX1	HP:0003596	Middle age onset	15/17	OMIM:620158
4884	NPTX1	HP:0003584	Late onset	1/17	OMIM:620158
4884	NPTX1	HP:0002345	Action tremor	1/17	OMIM:620158
4884	NPTX1	HP:0002354	Memory impairment	1/16	OMIM:620158
4884	NPTX1	HP:0002346	Head tremor	1/17	OMIM:620158
4884	NPTX1	HP:0032121	Froment sign	1/17	OMIM:620158
4884	NPTX1	HP:0006855	Cerebellar vermis atrophy	3/12	OMIM:620158
4884	NPTX1	HP:0000639	Nystagmus	13/16	OMIM:620158
4884	NPTX1	HP:0000651	Diplopia	3/16	OMIM:620158
4884	NPTX1	HP:0011462	Young adult onset	1/17	OMIM:620158
4884	NPTX1	HP:0033051	Impaired executive functioning	2/16	OMIM:620158
4884	NPTX1	HP:0000365	Hearing impairment	3/17	OMIM:620158
4884	NPTX1	HP:0000508	Ptosis	2/16	OMIM:620158
4891	SLC11A2	HP:0032231	Hypochromia	1/1	OMIM:206100
4891	SLC11A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:206100
4891	SLC11A2	HP:0012132	Erythroid hyperplasia	1/1	OMIM:206100
4891	SLC11A2	HP:0003452	Increased circulating iron concentration	1/1	OMIM:206100
4891	SLC11A2	HP:0003593	Infantile onset	1/1	OMIM:206100
4891	SLC11A2	HP:0025066	Decreased mean corpuscular volume	1/1	OMIM:206100
4891	SLC11A2	HP:0001903	Anemia	1/1	OMIM:206100
4891	SLC11A2	HP:0012465	Elevated hepatic iron concentration	1/1	OMIM:206100
4893	NRAS	HP:0001156	Brachydactyly	HP:0040283	ORPHA:648
4893	NRAS	HP:0001167	Abnormal finger morphology	-	OMIM:163200
4893	NRAS	HP:0010946	Dilatation of the renal pelvis	HP:0040283	ORPHA:648
4893	NRAS	HP:0001195	Single umbilical artery	1/10	OMIM:613224
4893	NRAS	HP:0003745	Sporadic	-	OMIM:163200
4893	NRAS	HP:0003745	Sporadic	-	OMIM:249400
4893	NRAS	HP:0003764	Nevus	HP:0040281	ORPHA:626
4893	NRAS	HP:0003764	Nevus	-	OMIM:163200
4893	NRAS	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4893	NRAS	HP:0001293	Cranial nerve compression	-	OMIM:131300
4893	NRAS	HP:0001290	Generalized hypotonia	HP:0040280	OMIM:613224
4893	NRAS	HP:0001270	Motor delay	9/12	OMIM:613224
4893	NRAS	HP:0100827	Increased total lymphocyte count	-	OMIM:614470
4893	NRAS	HP:0001268	Mental deterioration	HP:0040283	ORPHA:389
4893	NRAS	HP:0001268	Mental deterioration	-	OMIM:249400
4893	NRAS	HP:0001250	Seizure	HP:0040283	ORPHA:626
4893	NRAS	HP:0001250	Seizure	-	OMIM:163200
4893	NRAS	HP:0001250	Seizure	HP:0040281	ORPHA:2612
4893	NRAS	HP:0001250	Seizure	-	OMIM:249400
4893	NRAS	HP:0001252	Hypotonia	HP:0040282	ORPHA:648
4893	NRAS	HP:0001252	Hypotonia	HP:0040281	ORPHA:2612
4893	NRAS	HP:0001252	Hypotonia	2/7	OMIM:615777
4893	NRAS	HP:0001251	Ataxia	HP:0040283	ORPHA:389
4893	NRAS	HP:0001249	Intellectual disability	HP:0040283	ORPHA:648
4893	NRAS	HP:0001249	Intellectual disability	-	OMIM:163200
4893	NRAS	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2612
4893	NRAS	HP:0001249	Intellectual disability	5/7	OMIM:615777
4893	NRAS	HP:0001260	Dysarthria	HP:0040283	ORPHA:389
4893	NRAS	HP:0001260	Dysarthria	HP:0040281	ORPHA:648
4893	NRAS	HP:0001263	Global developmental delay	HP:0040283	OMIM:249400
4893	NRAS	HP:0001263	Global developmental delay	-	OMIM:615777
4893	NRAS	HP:0007400	Irregular hyperpigmentation	HP:0040282	ORPHA:2612
4893	NRAS	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2612
4893	NRAS	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:2612
4893	NRAS	HP:0002515	Waddling gait	54/102	OMIM:131300
4893	NRAS	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:626
4893	NRAS	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:2612
4893	NRAS	HP:0000085	Horseshoe kidney	-	OMIM:163200
4893	NRAS	HP:0001399	Hepatic failure	HP:0040284	ORPHA:389
4893	NRAS	HP:0012056	Cutaneous melanoma	-	OMIM:137550
4893	NRAS	HP:0012056	Cutaneous melanoma	HP:0040283	ORPHA:626
4893	NRAS	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:648
4893	NRAS	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:648
4893	NRAS	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:648
4893	NRAS	HP:0001382	Joint hypermobility	-	OMIM:615777
4893	NRAS	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:2612
4893	NRAS	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4893	NRAS	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:2612
4893	NRAS	HP:0000028	Cryptorchidism	6/9	OMIM:613224
4893	NRAS	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:626
4893	NRAS	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:648
4893	NRAS	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4893	NRAS	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:648
4893	NRAS	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:648
4893	NRAS	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:648
4893	NRAS	HP:0001328	Specific learning disability	HP:0040283	ORPHA:648
4893	NRAS	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4893	NRAS	HP:0001324	Muscle weakness	HP:0040281	ORPHA:648
4893	NRAS	HP:0001324	Muscle weakness	40/96	OMIM:131300
4893	NRAS	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4893	NRAS	HP:0002671	Basal cell carcinoma	-	OMIM:163200
4893	NRAS	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4893	NRAS	HP:0002665	Lymphoma	-	OMIM:614470
4893	NRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
4893	NRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:613224
4893	NRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
4893	NRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:614470
4893	NRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4893	NRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:188470
4893	NRAS	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:2612
4893	NRAS	HP:0001305	Dandy-Walker malformation	HP:0040283	OMIM:249400
4893	NRAS	HP:0002653	Bone pain	HP:0040281	ORPHA:389
4893	NRAS	HP:0002650	Scoliosis	HP:0040282	ORPHA:648
4893	NRAS	HP:0002650	Scoliosis	12/14	OMIM:131300
4893	NRAS	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:2612
4893	NRAS	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4893	NRAS	HP:0002619	Varicose veins	-	OMIM:153400
4893	NRAS	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4893	NRAS	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4893	NRAS	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:648
4893	NRAS	HP:0000194	Open mouth	-	OMIM:137550
4893	NRAS	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4893	NRAS	HP:0001488	Bilateral ptosis	2/2	OMIM:613224
4893	NRAS	HP:0000175	Cleft palate	5/39	OMIM:153400
4893	NRAS	HP:0000175	Cleft palate	2/7	OMIM:615777
4893	NRAS	HP:0002797	Osteolysis	HP:0040281	ORPHA:389
4893	NRAS	HP:0000155	Oral ulcer	HP:0040283	ORPHA:389
4893	NRAS	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:626
4893	NRAS	HP:0002757	Recurrent fractures	-	OMIM:163200
4893	NRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
4893	NRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:188470
4893	NRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:163200
4893	NRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:137550
4893	NRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:614470
4893	NRAS	HP:0001442	Typified by somatic mosaicism	-	OMIM:249400
4893	NRAS	HP:0001442	Typified by somatic mosaicism	20/20	OMIM:162900
4893	NRAS	HP:0002731	Decreased T cell apoptosis	-	OMIM:614470
4893	NRAS	HP:0002751	Kyphoscoliosis	-	OMIM:163200
4893	NRAS	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:648
4893	NRAS	HP:0002719	Recurrent infections	HP:0040283	OMIM:614470
4893	NRAS	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:389
4893	NRAS	HP:0002729	Follicular hyperplasia	-	OMIM:614470
4893	NRAS	HP:0002002	Deep philtrum	-	OMIM:137550
4893	NRAS	HP:0030991	Sclerosing cholangitis	HP:0040284	ORPHA:389
4893	NRAS	HP:0002007	Frontal bossing	HP:0040281	ORPHA:2612
4893	NRAS	HP:0011800	Midface retrusion	HP:0040281	ORPHA:648
4893	NRAS	HP:0002093	Respiratory insufficiency	HP:0040284	ORPHA:389
4893	NRAS	HP:0100555	Asymmetric growth	HP:0040281	ORPHA:2612
4893	NRAS	HP:0003396	Syringomyelia	HP:0040283	OMIM:249400
4893	NRAS	HP:0003388	Easy fatigability	36/76	OMIM:131300
4893	NRAS	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4893	NRAS	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:2612
4893	NRAS	HP:0002132	Porencephalic cyst	HP:0040282	ORPHA:2612
4893	NRAS	HP:0002108	Spontaneous pneumothorax	HP:0040283	ORPHA:389
4893	NRAS	HP:0003422	Vertebral segmentation defect	HP:0040281	ORPHA:2612
4893	NRAS	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:648
4893	NRAS	HP:0002162	Low posterior hairline	2/2	OMIM:613224
4893	NRAS	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:648
4893	NRAS	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:626
4893	NRAS	HP:0011869	Abnormal platelet function	HP:0040282	ORPHA:648
4893	NRAS	HP:0003577	Congenital onset	10/14	OMIM:613224
4893	NRAS	HP:0003577	Congenital onset	-	OMIM:137550
4893	NRAS	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:389
4893	NRAS	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:648
4893	NRAS	HP:0002240	Hepatomegaly	-	OMIM:614470
4893	NRAS	HP:0100702	Arachnoid cyst	HP:0040283	OMIM:249400
4893	NRAS	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
4893	NRAS	HP:0002212	Curly hair	5/11	OMIM:613224
4893	NRAS	HP:0002208	Coarse hair	HP:0040282	ORPHA:648
4893	NRAS	HP:0002205	Recurrent respiratory infections	HP:0040283	OMIM:614470
4893	NRAS	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:648
4893	NRAS	HP:0009743	Distichiasis	42/42	OMIM:153400
4893	NRAS	HP:0010702	Increased circulating immunoglobulin concentration	-	OMIM:614470
4893	NRAS	HP:0009720	Adenoma sebaceum	HP:0040281	ORPHA:2612
4893	NRAS	HP:0011968	Feeding difficulties	1/2	OMIM:613224
4893	NRAS	HP:0003510	Severe short stature	7/7	OMIM:615777
4893	NRAS	HP:0001058	Poor wound healing	HP:0040282	ORPHA:626
4893	NRAS	HP:0001054	Numerous nevi	-	OMIM:162900
4893	NRAS	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:626
4893	NRAS	HP:0001048	Cavernous hemangioma	HP:0040281	ORPHA:2612
4893	NRAS	HP:0001028	Hemangioma	-	OMIM:163200
4893	NRAS	HP:0001010	Hypopigmentation of the skin	-	OMIM:163200
4893	NRAS	HP:0001004	Lymphedema	HP:0040283	ORPHA:648
4893	NRAS	HP:0001004	Lymphedema	-	OMIM:153400
4893	NRAS	HP:0002353	EEG abnormality	HP:0040281	ORPHA:2612
4893	NRAS	HP:0002315	Headache	-	OMIM:131300
4893	NRAS	HP:0002315	Headache	HP:0040283	ORPHA:626
4893	NRAS	HP:0004976	Knee dislocation	6/7	OMIM:615777
4893	NRAS	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:626
4893	NRAS	HP:0001003	Multiple lentigines	2/2	OMIM:613224
4893	NRAS	HP:0200022	Choroid plexus papilloma	HP:0040283	OMIM:249400
4893	NRAS	HP:0007206	Hemimegalencephaly	-	OMIM:163200
4893	NRAS	HP:0100658	Cellulitis	2/6	OMIM:153400
4893	NRAS	HP:0010815	Nevus sebaceous	-	OMIM:163200
4893	NRAS	HP:0010817	Linear nevus sebaceous	-	OMIM:163200
4893	NRAS	HP:0100625	Enlarged thorax	HP:0040281	ORPHA:648
4893	NRAS	HP:0009803	Short phalanx of finger	-	OMIM:615777
4893	NRAS	HP:0032152	Keratosis pilaris	4/9	OMIM:613224
4893	NRAS	HP:0010759	Prominence of the premaxilla	-	OMIM:137550
4893	NRAS	HP:0009763	Limb pain	63/92	OMIM:131300
4893	NRAS	HP:0003621	Juvenile onset	-	OMIM:131300
4893	NRAS	HP:0004912	Hypophosphatemic rickets	HP:0040284	ORPHA:626
4893	NRAS	HP:0004912	Hypophosphatemic rickets	-	OMIM:163200
4893	NRAS	HP:0034769	Pulmonary Langerhans cell histiocytosis	HP:0040283	ORPHA:389
4893	NRAS	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4893	NRAS	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:648
4893	NRAS	HP:0005523	Lymphoproliferative disorder	-	OMIM:614470
4893	NRAS	HP:0006824	Cranial nerve paralysis	-	OMIM:249400
4893	NRAS	HP:0005584	Renal cell carcinoma	-	OMIM:114500
4893	NRAS	HP:0006889	Intellectual disability, borderline	2/5	OMIM:613224
4893	NRAS	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4893	NRAS	HP:0000639	Nystagmus	HP:0040283	ORPHA:648
4893	NRAS	HP:0000635	Blue irides	HP:0040282	ORPHA:648
4893	NRAS	HP:6001056	Out-toeing	-	OMIM:131300
4893	NRAS	HP:0000651	Diplopia	-	OMIM:131300
4893	NRAS	HP:0001973	Autoimmune thrombocytopenia	-	OMIM:614470
4893	NRAS	HP:0000613	Photophobia	10/49	OMIM:153400
4893	NRAS	HP:0000612	Iris coloboma	HP:0040281	ORPHA:2612
4893	NRAS	HP:0001945	Fever	HP:0040282	ORPHA:389
4893	NRAS	HP:0000629	Periorbital fullness	-	OMIM:137550
4893	NRAS	HP:0001956	Truncal obesity	2/7	OMIM:615777
4893	NRAS	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:648
4893	NRAS	HP:0000602	Ophthalmoplegia	HP:0040283	OMIM:163200
4893	NRAS	HP:0001909	Leukemia	-	OMIM:614470
4893	NRAS	HP:0001903	Anemia	HP:0040283	OMIM:131300
4893	NRAS	HP:0010049	Short metacarpal	-	OMIM:615777
4893	NRAS	HP:0011381	Aplasia of the semicircular canal	HP:0040283	ORPHA:648
4893	NRAS	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
4893	NRAS	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:648
4893	NRAS	HP:0000678	Dental crowding	-	OMIM:615777
4893	NRAS	HP:0000656	Ectropion	2/43	OMIM:153400
4893	NRAS	HP:0000670	Carious teeth	-	OMIM:131300
4893	NRAS	HP:0011304	Broad thumb	2/7	OMIM:615777
4893	NRAS	HP:0000668	Hypodontia	-	OMIM:615777
4893	NRAS	HP:0000664	Synophrys	-	OMIM:615777
4893	NRAS	HP:0004322	Short stature	HP:0040281	ORPHA:648
4893	NRAS	HP:0004322	Short stature	-	OMIM:163200
4893	NRAS	HP:0004322	Short stature	5/14	OMIM:613224
4893	NRAS	HP:0005603	Numerous congenital melanocytic nevi	-	OMIM:249400
4893	NRAS	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:648
4893	NRAS	HP:0005600	Congenital giant melanocytic nevus	-	OMIM:137550
4893	NRAS	HP:0005600	Congenital giant melanocytic nevus	HP:0040281	ORPHA:626
4893	NRAS	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:389
4893	NRAS	HP:0004396	Poor appetite	-	OMIM:131300
4893	NRAS	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4893	NRAS	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4893	NRAS	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4893	NRAS	HP:0003011	Abnormality of the musculature	-	OMIM:153400
4893	NRAS	HP:0003026	Short long bone	7/7	OMIM:615777
4893	NRAS	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4893	NRAS	HP:0012735	Cough	HP:0040282	ORPHA:389
4893	NRAS	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:648
4893	NRAS	HP:0000767	Pectus excavatum	9/13	OMIM:613224
4893	NRAS	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4893	NRAS	HP:0000766	Abnormal sternum morphology	4/5	OMIM:613224
4893	NRAS	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4893	NRAS	HP:0000768	Pectus carinatum	HP:0040281	ORPHA:648
4893	NRAS	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4893	NRAS	HP:0000750	Delayed speech and language development	1/5	OMIM:613224
4893	NRAS	HP:0000750	Delayed speech and language development	-	OMIM:615777
4893	NRAS	HP:0000708	Atypical behavior	HP:0040283	ORPHA:626
4893	NRAS	HP:0011461	Fetal onset	4/14	OMIM:613224
4893	NRAS	HP:0011461	Fetal onset	7/7	OMIM:615777
4893	NRAS	HP:0000774	Narrow chest	2/7	OMIM:615777
4893	NRAS	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:626
4893	NRAS	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:648
4893	NRAS	HP:0003115	Abnormal EKG	HP:0040281	ORPHA:648
4893	NRAS	HP:0003109	Hyperphosphaturia	HP:0040283	OMIM:163200
4893	NRAS	HP:0004422	Biparietal narrowing	HP:0040281	ORPHA:2612
4893	NRAS	HP:0004415	Pulmonary artery stenosis	HP:0040281	ORPHA:648
4893	NRAS	HP:0003196	Short nose	-	OMIM:137550
4893	NRAS	HP:0000926	Platyspondyly	1/7	OMIM:615777
4893	NRAS	HP:0003180	Flat acetabular roof	-	OMIM:615777
4893	NRAS	HP:0004482	Relative macrocephaly	-	OMIM:615777
4893	NRAS	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4893	NRAS	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:389
4893	NRAS	HP:0012804	Corneal ulceration	-	OMIM:153400
4893	NRAS	HP:0000826	Precocious puberty	HP:0040283	OMIM:163200
4893	NRAS	HP:0000823	Delayed puberty	-	OMIM:131300
4893	NRAS	HP:0000894	Short clavicles	-	OMIM:615777
4893	NRAS	HP:0004523	Long eyebrows	-	OMIM:613224
4893	NRAS	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4893	NRAS	HP:0003249	Genital ulcers	HP:0040283	ORPHA:389
4893	NRAS	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:626
4893	NRAS	HP:0000995	Melanocytic nevus	HP:0040281	ORPHA:2612
4893	NRAS	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:648
4893	NRAS	HP:0000995	Melanocytic nevus	-	OMIM:162900
4893	NRAS	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:648
4893	NRAS	HP:0010310	Chylothorax	1/6	OMIM:153400
4893	NRAS	HP:0010314	Premature thelarche	HP:0040284	ORPHA:626
4893	NRAS	HP:0000978	Bruising susceptibility	3/11	OMIM:613224
4893	NRAS	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:648
4893	NRAS	HP:0034323	Reduced circulating growth hormone concentration	HP:0040283	ORPHA:389
4893	NRAS	HP:0000989	Pruritus	HP:0040283	ORPHA:626
4893	NRAS	HP:0000988	Skin rash	HP:0040282	ORPHA:389
4893	NRAS	HP:0000958	Dry skin	HP:0040282	ORPHA:626
4893	NRAS	HP:0000957	Cafe-au-lait spot	5/14	OMIM:613224
4893	NRAS	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4893	NRAS	HP:0000970	Anhidrosis	HP:0040282	ORPHA:626
4893	NRAS	HP:0000969	Edema	-	OMIM:613224
4893	NRAS	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:389
4893	NRAS	HP:0000938	Osteopenia	-	OMIM:163200
4893	NRAS	HP:0000938	Osteopenia	HP:0040283	ORPHA:648
4893	NRAS	HP:0008070	Sparse hair	1/5	OMIM:613224
4893	NRAS	HP:0008064	Ichthyosis	-	OMIM:163200
4893	NRAS	HP:0011675	Arrhythmia	-	OMIM:153400
4893	NRAS	HP:0011675	Arrhythmia	HP:0040282	ORPHA:648
4893	NRAS	HP:0040198	Non-medullary thyroid carcinoma	-	OMIM:188470
4893	NRAS	HP:0000286	Epicanthus	-	OMIM:613224
4893	NRAS	HP:0000286	Epicanthus	1/7	OMIM:615777
4893	NRAS	HP:0000280	Coarse facial features	2/7	OMIM:615777
4893	NRAS	HP:0000293	Full cheeks	-	OMIM:137550
4893	NRAS	HP:0001596	Alopecia	HP:0040281	ORPHA:2612
4893	NRAS	HP:0001596	Alopecia	-	OMIM:163200
4893	NRAS	HP:0000256	Macrocephaly	5/13	OMIM:613224
4893	NRAS	HP:0000267	Cranial asymmetry	-	OMIM:163200
4893	NRAS	HP:0000269	Prominent occiput	HP:0040281	ORPHA:2612
4893	NRAS	HP:0002816	Genu recurvatum	HP:0040281	ORPHA:2612
4893	NRAS	HP:0002827	Hip dislocation	3/7	OMIM:615777
4893	NRAS	HP:0002808	Kyphosis	2/5	OMIM:153400
4893	NRAS	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:626
4893	NRAS	HP:0000238	Hydrocephalus	HP:0040283	OMIM:249400
4893	NRAS	HP:0000252	Microcephaly	-	OMIM:615777
4893	NRAS	HP:0012209	Juvenile myelomonocytic leukemia	1/14	OMIM:613224
4893	NRAS	HP:0012209	Juvenile myelomonocytic leukemia	HP:0040283	ORPHA:648
4893	NRAS	HP:0001548	Overgrowth	-	OMIM:163200
4893	NRAS	HP:0000218	High palate	HP:0040281	ORPHA:648
4893	NRAS	HP:0002895	Papillary thyroid carcinoma	-	OMIM:188470
4893	NRAS	HP:0001561	Polyhydramnios	4/10	OMIM:613224
4893	NRAS	HP:0000232	Everted lower lip vermilion	-	OMIM:137550
4893	NRAS	HP:0025510	Nevus spilus	-	OMIM:137550
4893	NRAS	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
4893	NRAS	HP:0002861	Melanoma	-	OMIM:249400
4893	NRAS	HP:0002858	Meningioma	HP:0040283	OMIM:249400
4893	NRAS	HP:0001528	Hemihypertrophy	-	OMIM:163200
4893	NRAS	HP:0002857	Genu valgum	-	OMIM:131300
4893	NRAS	HP:0001522	Death in infancy	-	OMIM:249400
4893	NRAS	HP:0001533	Slender build	-	OMIM:131300
4893	NRAS	HP:0000204	Cleft upper lip	-	OMIM:153400
4893	NRAS	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4893	NRAS	HP:0001510	Growth delay	HP:0040283	ORPHA:2612
4893	NRAS	HP:0001510	Growth delay	HP:0040283	ORPHA:389
4893	NRAS	HP:0001510	Growth delay	-	OMIM:163200
4893	NRAS	HP:0001510	Growth delay	1/2	OMIM:613224
4893	NRAS	HP:0007807	Optic nerve compression	-	OMIM:131300
4893	NRAS	HP:0011073	Abnormality of dental color	-	OMIM:163200
4893	NRAS	HP:0012368	Flat face	7/7	OMIM:615777
4893	NRAS	HP:0000391	Thickened helices	HP:0040281	ORPHA:648
4893	NRAS	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4893	NRAS	HP:0006482	Abnormal dental morphology	-	OMIM:163200
4893	NRAS	HP:0000365	Hearing impairment	HP:0040283	ORPHA:389
4893	NRAS	HP:0000365	Hearing impairment	10/67	OMIM:131300
4893	NRAS	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:648
4893	NRAS	HP:0000358	Posteriorly rotated ears	14/14	OMIM:613224
4893	NRAS	HP:0000369	Low-set ears	14/14	OMIM:613224
4893	NRAS	HP:0000343	Long philtrum	1/7	OMIM:615777
4893	NRAS	HP:0000343	Long philtrum	-	OMIM:137550
4893	NRAS	HP:0011001	Increased bone mineral density	-	OMIM:131300
4893	NRAS	HP:0000337	Broad forehead	1/2	OMIM:613224
4893	NRAS	HP:0000337	Broad forehead	-	OMIM:137550
4893	NRAS	HP:0001680	Coarctation of aorta	1/13	OMIM:613224
4893	NRAS	HP:0001680	Coarctation of aorta	-	OMIM:163200
4893	NRAS	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:648
4893	NRAS	HP:0000348	High forehead	14/14	OMIM:613224
4893	NRAS	HP:0000348	High forehead	HP:0040281	ORPHA:648
4893	NRAS	HP:0000347	Micrognathia	2/5	OMIM:153400
4893	NRAS	HP:0000347	Micrognathia	HP:0040281	ORPHA:648
4893	NRAS	HP:0012311	Increased total monocyte count	-	OMIM:614470
4893	NRAS	HP:0000316	Hypertelorism	14/14	OMIM:613224
4893	NRAS	HP:0000316	Hypertelorism	-	OMIM:137550
4893	NRAS	HP:0000316	Hypertelorism	HP:0040281	ORPHA:648
4893	NRAS	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:648
4893	NRAS	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
4893	NRAS	HP:0000311	Round face	2/7	OMIM:615777
4893	NRAS	HP:0000311	Round face	-	OMIM:137550
4893	NRAS	HP:0001642	Pulmonic stenosis	3/3	OMIM:613224
4893	NRAS	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:648
4893	NRAS	HP:0000325	Triangular face	HP:0040281	ORPHA:648
4893	NRAS	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:2612
4893	NRAS	HP:0001655	Patent foramen ovale	1/13	OMIM:613224
4893	NRAS	HP:0002960	Autoimmunity	-	OMIM:614470
4893	NRAS	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
4893	NRAS	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:648
4893	NRAS	HP:0002970	Genu varum	-	OMIM:615777
4893	NRAS	HP:0001639	Hypertrophic cardiomyopathy	3/3	OMIM:613224
4893	NRAS	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:648
4893	NRAS	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
4893	NRAS	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:648
4893	NRAS	HP:0001631	Atrial septal defect	1/1	OMIM:613224
4893	NRAS	HP:0000303	Mandibular prognathia	-	OMIM:131300
4893	NRAS	HP:0007957	Corneal opacity	HP:0040283	OMIM:163200
4893	NRAS	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:648
4893	NRAS	HP:0006699	Premature atrial contractions	1/11	OMIM:613224
4893	NRAS	HP:0000407	Sensorineural hearing impairment	-	OMIM:613224
4893	NRAS	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:648
4893	NRAS	HP:0005280	Depressed nasal bridge	-	OMIM:613224
4893	NRAS	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4893	NRAS	HP:0000483	Astigmatism	1/12	OMIM:613224
4893	NRAS	HP:0000486	Strabismus	2/12	OMIM:613224
4893	NRAS	HP:0000486	Strabismus	HP:0040282	ORPHA:648
4893	NRAS	HP:0000476	Cystic hygroma	HP:0040281	ORPHA:648
4893	NRAS	HP:0000476	Cystic hygroma	2/43	OMIM:153400
4893	NRAS	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:2612
4893	NRAS	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
4893	NRAS	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:648
4893	NRAS	HP:0000494	Downslanted palpebral fissures	14/14	OMIM:613224
4893	NRAS	HP:0000463	Anteverted nares	-	OMIM:137550
4893	NRAS	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
4893	NRAS	HP:0000455	Broad nasal tip	-	OMIM:137550
4893	NRAS	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:648
4893	NRAS	HP:0000470	Short neck	2/2	OMIM:613224
4893	NRAS	HP:0000470	Short neck	1/7	OMIM:615777
4893	NRAS	HP:0000465	Webbed neck	10/12	OMIM:613224
4893	NRAS	HP:0000465	Webbed neck	HP:0040281	ORPHA:648
4893	NRAS	HP:0000465	Webbed neck	6/43	OMIM:153400
4893	NRAS	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4893	NRAS	HP:0001763	Pes planus	1/7	OMIM:615777
4893	NRAS	HP:0001780	Abnormal toe morphology	-	OMIM:163200
4893	NRAS	HP:0000418	Narrow nasal ridge	-	OMIM:137550
4893	NRAS	HP:0001744	Splenomegaly	HP:0040282	ORPHA:389
4893	NRAS	HP:0001744	Splenomegaly	-	OMIM:614470
4893	NRAS	HP:0001743	Abnormality of the spleen	HP:0040282	ORPHA:648
4893	NRAS	HP:0000431	Wide nasal bridge	-	OMIM:613224
4893	NRAS	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
4893	NRAS	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
4893	NRAS	HP:0006731	Follicular thyroid carcinoma	-	OMIM:188470
4893	NRAS	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
4893	NRAS	HP:0001840	Metatarsus adductus	-	OMIM:615777
4893	NRAS	HP:0000520	Proptosis	2/4	OMIM:131300
4893	NRAS	HP:0000520	Proptosis	7/7	OMIM:615777
4893	NRAS	HP:0000520	Proptosis	HP:0040281	ORPHA:648
4893	NRAS	HP:0001824	Weight loss	HP:0040283	ORPHA:389
4893	NRAS	HP:0000506	Telecanthus	HP:0040281	ORPHA:2612
4893	NRAS	HP:0000509	Conjunctivitis	-	OMIM:153400
4893	NRAS	HP:0000508	Ptosis	2/39	OMIM:153400
4893	NRAS	HP:0000508	Ptosis	3/14	OMIM:613224
4893	NRAS	HP:0000508	Ptosis	HP:0040281	ORPHA:648
4893	NRAS	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:2612
4893	NRAS	HP:0012569	Delayed menarche	HP:0040283	ORPHA:648
4893	NRAS	HP:0000592	Blue sclerae	2/7	OMIM:615777
4893	NRAS	HP:0000589	Coloboma	-	OMIM:163200
4893	NRAS	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:648
4893	NRAS	HP:0000563	Keratoconus	1/11	OMIM:613224
4893	NRAS	HP:0011220	Prominent forehead	-	OMIM:137550
4893	NRAS	HP:0000568	Microphthalmia	HP:0040281	ORPHA:2612
4893	NRAS	HP:0000568	Microphthalmia	1/6	OMIM:153400
4893	NRAS	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4893	NRAS	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:389
4893	NRAS	HP:0012514	Lower limb pain	4/4	OMIM:131300
4893	NRAS	HP:0001878	Hemolytic anemia	-	OMIM:614470
4893	NRAS	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:389
4893	NRAS	HP:0001876	Pancytopenia	-	OMIM:614470
4893	NRAS	HP:0000545	Myopia	3/11	OMIM:613224
4893	NRAS	HP:0001875	Decreased total neutrophil count	-	OMIM:614470
4897	NRCAM	HP:0001270	Motor delay	3/10	OMIM:619833
4897	NRCAM	HP:0001252	Hypotonia	4/10	OMIM:619833
4897	NRCAM	HP:0001251	Ataxia	2/10	OMIM:619833
4897	NRCAM	HP:0001249	Intellectual disability	3/10	OMIM:619833
4897	NRCAM	HP:0001263	Global developmental delay	4/10	OMIM:619833
4897	NRCAM	HP:0033683	Jaw hyperreflexia	1/10	OMIM:619833
4897	NRCAM	HP:0008807	Acetabular dysplasia	1/9	OMIM:619833
4897	NRCAM	HP:0001385	Hip dysplasia	3/9	OMIM:619833
4897	NRCAM	HP:0001357	Plagiocephaly	1/8	OMIM:619833
4897	NRCAM	HP:0033725	Thin corpus callosum	2/9	OMIM:619833
4897	NRCAM	HP:0002673	Coxa valga	1/9	OMIM:619833
4897	NRCAM	HP:0000007	Autosomal recessive inheritance	-	OMIM:619833
4897	NRCAM	HP:0002650	Scoliosis	5/9	OMIM:619833
4897	NRCAM	HP:0002020	Gastroesophageal reflux	1/9	OMIM:619833
4897	NRCAM	HP:0002002	Deep philtrum	1/8	OMIM:619833
4897	NRCAM	HP:0002119	Ventriculomegaly	2/9	OMIM:619833
4897	NRCAM	HP:0002188	Delayed CNS myelination	2/9	OMIM:619833
4897	NRCAM	HP:0002263	Exaggerated cupid's bow	1/8	OMIM:619833
4897	NRCAM	HP:0003577	Congenital onset	8/10	OMIM:619833
4897	NRCAM	HP:0100702	Arachnoid cyst	1/9	OMIM:619833
4897	NRCAM	HP:0100716	Self-injurious behavior	2/5	OMIM:619833
4897	NRCAM	HP:0010804	Tented upper lip vermilion	2/8	OMIM:619833
4897	NRCAM	HP:0007165	Periventricular heterotopia	1/9	OMIM:619833
4897	NRCAM	HP:0010747	Medial flaring of the eyebrow	1/8	OMIM:619833
4897	NRCAM	HP:0007108	Demyelinating peripheral neuropathy	1/10	OMIM:619833
4897	NRCAM	HP:0003621	Juvenile onset	1/10	OMIM:619833
4897	NRCAM	HP:0000648	Optic atrophy	1/8	OMIM:619833
4897	NRCAM	HP:0000629	Periorbital fullness	1/8	OMIM:619833
4897	NRCAM	HP:0004322	Short stature	2/8	OMIM:619833
4897	NRCAM	HP:0006970	Periventricular leukomalacia	2/9	OMIM:619833
4897	NRCAM	HP:0005684	Distal arthrogryposis	1/10	OMIM:619833
4897	NRCAM	HP:0100021	Cerebral palsy	3/10	OMIM:619833
4897	NRCAM	HP:0000737	Irritability	2/5	OMIM:619833
4897	NRCAM	HP:0000718	Aggressive behavior	1/5	OMIM:619833
4897	NRCAM	HP:0011471	Gastrostomy tube feeding in infancy	2/9	OMIM:619833
4897	NRCAM	HP:0003196	Short nose	1/8	OMIM:619833
4897	NRCAM	HP:0000280	Coarse facial features	1/8	OMIM:619833
4897	NRCAM	HP:0000276	Long face	1/8	OMIM:619833
4897	NRCAM	HP:0000238	Hydrocephalus	1/9	OMIM:619833
4897	NRCAM	HP:0000252	Microcephaly	3/6	OMIM:619833
4897	NRCAM	HP:0000218	High palate	1/8	OMIM:619833
4897	NRCAM	HP:0001561	Polyhydramnios	2/10	OMIM:619833
4897	NRCAM	HP:0001508	Failure to thrive	2/8	OMIM:619833
4897	NRCAM	HP:0030048	Colpocephaly	1/9	OMIM:619833
4897	NRCAM	HP:0001511	Intrauterine growth retardation	1/10	OMIM:619833
4897	NRCAM	HP:0001601	Laryngomalacia	1/10	OMIM:619833
4897	NRCAM	HP:0000365	Hearing impairment	1/7	OMIM:619833
4897	NRCAM	HP:0000358	Posteriorly rotated ears	1/8	OMIM:619833
4897	NRCAM	HP:0000341	Narrow forehead	1/8	OMIM:619833
4897	NRCAM	HP:0000347	Micrognathia	3/8	OMIM:619833
4897	NRCAM	HP:0000316	Hypertelorism	1/8	OMIM:619833
4897	NRCAM	HP:0000331	Short chin	1/8	OMIM:619833
4897	NRCAM	HP:0005280	Depressed nasal bridge	2/8	OMIM:619833
4897	NRCAM	HP:0000486	Strabismus	2/8	OMIM:619833
4897	NRCAM	HP:0001765	Hammertoe	2/9	OMIM:619833
4897	NRCAM	HP:0001761	Pes cavus	3/9	OMIM:619833
4897	NRCAM	HP:0025708	Early young adult onset	1/10	OMIM:619833
4897	NRCAM	HP:0000518	Cataract	2/8	OMIM:619833
4897	NRCAM	HP:0000527	Long eyelashes	1/8	OMIM:619833
4897	NRCAM	HP:0000582	Upslanted palpebral fissure	1/8	OMIM:619833
4897	NRCAM	HP:0000574	Thick eyebrow	2/8	OMIM:619833
4897	NRCAM	HP:0000541	Retinal detachment	1/8	OMIM:619833
4901	NRL	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
4901	NRL	HP:0001133	Constriction of peripheral visual field	2/5	OMIM:613750
4901	NRL	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
4901	NRL	HP:0007401	Macular atrophy	-	OMIM:613750
4901	NRL	HP:0003829	Typified by incomplete penetrance	-	OMIM:613750
4901	NRL	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
4901	NRL	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
4901	NRL	HP:0000006	Autosomal dominant inheritance	-	OMIM:613750
4901	NRL	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
4901	NRL	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
4901	NRL	HP:0007663	Reduced visual acuity	2/5	OMIM:613750
4901	NRL	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
4901	NRL	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
4901	NRL	HP:0003596	Middle age onset	2/3	OMIM:613750
4901	NRL	HP:0003621	Juvenile onset	8/19	OMIM:180100
4901	NRL	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
4901	NRL	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
4901	NRL	HP:0000618	Blindness	HP:0040281	ORPHA:791
4901	NRL	HP:0000618	Blindness	-	OMIM:613750
4901	NRL	HP:0000613	Photophobia	HP:0040281	ORPHA:791
4901	NRL	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
4901	NRL	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
4901	NRL	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
4901	NRL	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
4901	NRL	HP:0000662	Nyctalopia	2/5	OMIM:613750
4901	NRL	HP:0000662	Nyctalopia	26/28	OMIM:180100
4901	NRL	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
4901	NRL	HP:0011463	Childhood onset	3/19	OMIM:180100
4901	NRL	HP:0011462	Young adult onset	8/19	OMIM:180100
4901	NRL	HP:0011462	Young adult onset	1/3	OMIM:613750
4901	NRL	HP:0030786	Photopsia	HP:0040283	ORPHA:791
4901	NRL	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
4901	NRL	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
4901	NRL	HP:0040049	Macular edema	HP:0040283	OMIM:613750
4901	NRL	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
4901	NRL	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
4901	NRL	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
4901	NRL	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
4901	NRL	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
4901	NRL	HP:0007737	Bone spicule pigmentation of the retina	2/5	OMIM:613750
4901	NRL	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
4901	NRL	HP:0007843	Attenuation of retinal blood vessels	1/5	OMIM:613750
4901	NRL	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
4901	NRL	HP:0007950	Peripapillary chorioretinal atrophy	-	OMIM:613750
4901	NRL	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
4901	NRL	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
4901	NRL	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
4901	NRL	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
4901	NRL	HP:0000510	Rod-cone dystrophy	3/5	OMIM:613750
4901	NRL	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
4901	NRL	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
4901	NRL	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
4901	NRL	HP:0000505	Visual impairment	-	OMIM:613750
4901	NRL	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
4901	NRL	HP:0000575	Scotoma	5/18	OMIM:180100
4901	NRL	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
4901	NRL	HP:0000533	Chorioretinal atrophy	-	OMIM:613750
4901	NRL	HP:0000550	Undetectable electroretinogram	2/5	OMIM:613750
4901	NRL	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
4901	NRL	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
4901	NRL	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
4901	NRL	HP:0000543	Optic disc pallor	1/1	OMIM:180100
4901	NRL	HP:0000545	Myopia	-	OMIM:180100
4902	NRTN	HP:0100806	Sepsis	HP:0040283	ORPHA:388
4902	NRTN	HP:0002019	Constipation	HP:0040281	ORPHA:388
4902	NRTN	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:388
4902	NRTN	HP:0002027	Abdominal pain	HP:0040281	ORPHA:388
4902	NRTN	HP:0002014	Diarrhea	HP:0040283	ORPHA:388
4902	NRTN	HP:6000224	Delayed passage of meconium	HP:0040282	ORPHA:388
4902	NRTN	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:388
4902	NRTN	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:388
4902	NRTN	HP:0034754	Bilious emesis	HP:0040282	ORPHA:388
4902	NRTN	HP:0004322	Short stature	HP:0040283	ORPHA:388
4902	NRTN	HP:0004387	Enterocolitis	HP:0040283	ORPHA:388
4902	NRTN	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040281	ORPHA:388
4902	NRTN	HP:0003270	Abdominal distention	HP:0040282	ORPHA:388
4902	NRTN	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:388
4902	NRTN	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:388
4902	NRTN	HP:0031369	Colon perforation	HP:0040283	ORPHA:388
4902	NRTN	HP:0001510	Growth delay	HP:0040283	ORPHA:388
4902	NRTN	HP:0005214	Intestinal obstruction	HP:0040281	ORPHA:388
4902	NRTN	HP:0001824	Weight loss	HP:0040282	ORPHA:388
4905	NSF	HP:0010851	EEG with burst suppression	2/2	OMIM:619340
4905	NSF	HP:0000006	Autosomal dominant inheritance	-	OMIM:619340
4905	NSF	HP:0002643	Neonatal respiratory distress	2/2	OMIM:619340
4905	NSF	HP:0002187	Intellectual disability, profound	1/1	OMIM:619340
4905	NSF	HP:0200134	Epileptic encephalopathy	2/2	OMIM:619340
4905	NSF	HP:0011451	Primary microcephaly	1/2	OMIM:619340
4905	NSF	HP:0001522	Death in infancy	1/2	OMIM:619340
4905	NSF	HP:0001518	Small for gestational age	1/2	OMIM:619340
4905	NSF	HP:0011097	Epileptic spasm	1/2	OMIM:619340
4905	NSF	HP:0032792	Tonic seizure	1/2	OMIM:619340
4905	NSF	HP:0001789	Hydrops fetalis	1/2	OMIM:619340
4907	NT5E	HP:0025324	Arterial occlusion	HP:0040281	ORPHA:289601
4907	NT5E	HP:0000007	Autosomal recessive inheritance	-	OMIM:211800
4907	NT5E	HP:0025477	Periarticular calcification	-	OMIM:211800
4907	NT5E	HP:0012101	Decreased serum creatinine	HP:0040282	ORPHA:289601
4907	NT5E	HP:0011986	Ectopic ossification	-	OMIM:211800
4907	NT5E	HP:0025015	Abnormal vascular morphology	HP:0040281	ORPHA:289601
4907	NT5E	HP:0005645	Intervertebral disk calcification	-	OMIM:211800
4907	NT5E	HP:0004417	Intermittent claudication	5/5	OMIM:211800
4907	NT5E	HP:0003207	Arterial calcification	HP:0040281	ORPHA:289601
4907	NT5E	HP:0005116	Arterial tortuosity	HP:0040283	ORPHA:289601
4907	NT5E	HP:0031303	Femoral arterial calcification	5/5	OMIM:211800
4907	NT5E	HP:0031304	Iliac arterial calcification	5/5	OMIM:211800
4907	NT5E	HP:0031305	Tibial arterial calcification	4/5	OMIM:211800
4907	NT5E	HP:0011025	Abnormal cardiovascular system physiology	HP:0040281	ORPHA:289601
4907	NT5E	HP:0001717	Coronary artery calcification	1/5	OMIM:211800
4907	NT5E	HP:0001717	Coronary artery calcification	HP:0040283	ORPHA:289601
4909	NTF4	HP:0012108	Open angle glaucoma	-	OMIM:613100
4913	NTHL1	HP:0002576	Intussusception	HP:0040283	OMIM:174900
4913	NTHL1	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
4913	NTHL1	HP:0001217	Clubbing	HP:0040283	OMIM:174900
4913	NTHL1	HP:0002671	Basal cell carcinoma	2/7	OMIM:616415
4913	NTHL1	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:454840
4913	NTHL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616415
4913	NTHL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
4913	NTHL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
4913	NTHL1	HP:0012125	Prostate cancer	1/4	OMIM:616415
4913	NTHL1	HP:0000138	Ovarian cyst	HP:0040283	ORPHA:454840
4913	NTHL1	HP:0012114	Endometrial carcinoma	HP:0040282	ORPHA:454840
4913	NTHL1	HP:0012114	Endometrial carcinoma	2/3	OMIM:616415
4913	NTHL1	HP:0031287	Seborrheic keratosis	HP:0040283	ORPHA:454840
4913	NTHL1	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
4913	NTHL1	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
4913	NTHL1	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
4913	NTHL1	HP:0003581	Adult onset	7/7	OMIM:616415
4913	NTHL1	HP:0009725	Bladder neoplasm	-	OMIM:616415
4913	NTHL1	HP:0009725	Bladder neoplasm	HP:0040282	ORPHA:454840
4913	NTHL1	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:454840
4913	NTHL1	HP:0001903	Anemia	HP:0040282	OMIM:174900
4913	NTHL1	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:454840
4913	NTHL1	HP:0003002	Breast carcinoma	1/3	OMIM:616415
4913	NTHL1	HP:0003003	Colon cancer	20%	OMIM:174900
4913	NTHL1	HP:0003003	Colon cancer	HP:0040282	ORPHA:454840
4913	NTHL1	HP:0003003	Colon cancer	5/12	OMIM:608456
4913	NTHL1	HP:0003003	Colon cancer	4/7	OMIM:616415
4913	NTHL1	HP:0003073	Hypoalbuminemia	-	OMIM:174900
4913	NTHL1	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
4913	NTHL1	HP:0008069	Neoplasm of the skin	HP:0040282	ORPHA:454840
4913	NTHL1	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:454840
4913	NTHL1	HP:0002858	Meningioma	HP:0040282	ORPHA:454840
4913	NTHL1	HP:0002858	Meningioma	1/7	OMIM:616415
4913	NTHL1	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
4913	NTHL1	HP:0005227	Adenomatous colonic polyposis	HP:0040281	ORPHA:454840
4913	NTHL1	HP:0005227	Adenomatous colonic polyposis	7/7	OMIM:616415
4913	NTHL1	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
4913	NTHL1	HP:0002900	Hypokalemia	-	OMIM:174900
4913	NTHL1	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
4913	NTHL1	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:454840
4913	NTHL1	HP:0006725	Pancreatic adenocarcinoma	1/7	OMIM:616415
4913	NTHL1	HP:0006771	Duodenal adenocarcinoma	1/7	OMIM:616415
4913	NTHL1	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
4913	NTHL1	HP:0006771	Duodenal adenocarcinoma	HP:0040283	ORPHA:454840
4913	NTHL1	HP:0012539	Non-Hodgkin lymphoma	HP:0040283	ORPHA:454840
4914	NTRK1	HP:0100963	Hyperesthesia	HP:0040284	ORPHA:642
4914	NTRK1	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:642
4914	NTRK1	HP:0007249	Decreased number of small peripheral myelinated nerve fibers	HP:0040282	ORPHA:64752
4914	NTRK1	HP:0007249	Decreased number of small peripheral myelinated nerve fibers	-	OMIM:256800
4914	NTRK1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:642
4914	NTRK1	HP:0001279	Syncope	HP:0040283	ORPHA:642
4914	NTRK1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:64752
4914	NTRK1	HP:0001249	Intellectual disability	4/4	OMIM:256800
4914	NTRK1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:642
4914	NTRK1	HP:0001263	Global developmental delay	-	OMIM:256800
4914	NTRK1	HP:0100851	Abnormal emotional state	HP:0040283	ORPHA:642
4914	NTRK1	HP:0007460	Autoamputation of digits	-	OMIM:256800
4914	NTRK1	HP:0006121	Acral ulceration	-	OMIM:256800
4914	NTRK1	HP:0002661	Painless fractures due to injury	HP:0040282	ORPHA:64752
4914	NTRK1	HP:0002661	Painless fractures due to injury	HP:0040282	ORPHA:642
4914	NTRK1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:642
4914	NTRK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:256800
4914	NTRK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:155240
4914	NTRK1	HP:0012170	Nail-biting	HP:0040282	ORPHA:642
4914	NTRK1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:64752
4914	NTRK1	HP:0000168	Abnormality of the gingiva	HP:0040282	ORPHA:64752
4914	NTRK1	HP:0002754	Osteomyelitis	HP:0040281	ORPHA:642
4914	NTRK1	HP:0002754	Osteomyelitis	-	OMIM:256800
4914	NTRK1	HP:0002715	Abnormality of the immune system	-	OMIM:256800
4914	NTRK1	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040281	ORPHA:642
4914	NTRK1	HP:0002015	Dysphagia	HP:0040283	ORPHA:642
4914	NTRK1	HP:0100537	Fasciitis	HP:0040282	ORPHA:642
4914	NTRK1	HP:0002045	Hypothermia	HP:0040284	ORPHA:642
4914	NTRK1	HP:0003474	Somatic sensory dysfunction	HP:0040283	ORPHA:642
4914	NTRK1	HP:0002100	Recurrent aspiration pneumonia	HP:0040283	ORPHA:642
4914	NTRK1	HP:0002164	Nail dysplasia	-	OMIM:256800
4914	NTRK1	HP:0100491	Abnormality of lower limb joint	HP:0040282	ORPHA:642
4914	NTRK1	HP:0003593	Infantile onset	-	OMIM:256800
4914	NTRK1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040283	ORPHA:642
4914	NTRK1	HP:0100710	Impulsivity	HP:0040283	ORPHA:642
4914	NTRK1	HP:0100712	Abnormal lumbar spine morphology	HP:0040283	ORPHA:642
4914	NTRK1	HP:0002209	Sparse scalp hair	-	OMIM:256800
4914	NTRK1	HP:0008404	Nail dystrophy	-	OMIM:256800
4914	NTRK1	HP:0100725	Lichenification	HP:0040282	ORPHA:642
4914	NTRK1	HP:0100725	Lichenification	-	OMIM:256800
4914	NTRK1	HP:0007021	Pain insensitivity	HP:0040282	ORPHA:64752
4914	NTRK1	HP:0007021	Pain insensitivity	HP:0040281	ORPHA:642
4914	NTRK1	HP:0007021	Pain insensitivity	14/14	OMIM:256800
4914	NTRK1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:642
4914	NTRK1	HP:0001058	Poor wound healing	HP:0040282	ORPHA:64752
4914	NTRK1	HP:0001058	Poor wound healing	-	OMIM:256800
4914	NTRK1	HP:0010829	Impaired temperature sensation	HP:0040282	ORPHA:64752
4914	NTRK1	HP:0010829	Impaired temperature sensation	HP:0040281	ORPHA:642
4914	NTRK1	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	HP:0040283	ORPHA:642
4914	NTRK1	HP:0009085	Alveolar ridge overgrowth	HP:0040283	ORPHA:642
4914	NTRK1	HP:0012622	Chronic kidney disease	HP:0040284	ORPHA:642
4914	NTRK1	HP:0001955	Unexplained fevers	HP:0040283	ORPHA:642
4914	NTRK1	HP:0001954	Recurrent fever	14/14	OMIM:256800
4914	NTRK1	HP:0001954	Recurrent fever	HP:0040282	ORPHA:642
4914	NTRK1	HP:0001903	Anemia	HP:0040283	ORPHA:642
4914	NTRK1	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:642
4914	NTRK1	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:642
4914	NTRK1	HP:0000752	Hyperactivity	HP:0040282	OMIM:256800
4914	NTRK1	HP:0000752	Hyperactivity	HP:0040283	ORPHA:642
4914	NTRK1	HP:0000736	Short attention span	HP:0040283	ORPHA:642
4914	NTRK1	HP:0000742	Self-mutilation	HP:0040281	ORPHA:642
4914	NTRK1	HP:0000742	Self-mutilation	4/4	OMIM:256800
4914	NTRK1	HP:0000712	Emotional lability	HP:0040282	OMIM:256800
4914	NTRK1	HP:0030757	Tooth abscess	HP:0040283	ORPHA:642
4914	NTRK1	HP:0003134	Abnormality of peripheral nerve conduction	HP:0040281	ORPHA:642
4914	NTRK1	HP:0012804	Corneal ulceration	HP:0040284	ORPHA:642
4914	NTRK1	HP:0012804	Corneal ulceration	-	OMIM:256800
4914	NTRK1	HP:0003095	Septic arthritis	HP:0040283	ORPHA:642
4914	NTRK1	HP:0003091	Trophic limb changes	HP:0040282	ORPHA:642
4914	NTRK1	HP:0003272	Abnormal hip bone morphology	HP:0040283	ORPHA:642
4914	NTRK1	HP:0030811	Tongue pain	HP:0040283	ORPHA:642
4914	NTRK1	HP:0008000	Decreased corneal reflex	HP:0040283	ORPHA:642
4914	NTRK1	HP:0000975	Hyperhidrosis	HP:0040284	ORPHA:642
4914	NTRK1	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:642
4914	NTRK1	HP:0000987	Atypical scarring of skin	HP:0040282	ORPHA:642
4914	NTRK1	HP:0000958	Dry skin	HP:0040282	ORPHA:642
4914	NTRK1	HP:0000970	Anhidrosis	HP:0040282	ORPHA:64752
4914	NTRK1	HP:0000970	Anhidrosis	HP:0040281	ORPHA:642
4914	NTRK1	HP:0000970	Anhidrosis	4/4	OMIM:256800
4914	NTRK1	HP:0000272	Malar flattening	HP:0040282	ORPHA:64752
4914	NTRK1	HP:0007759	Opacification of the corneal stroma	-	OMIM:256800
4914	NTRK1	HP:0002821	Neuropathic arthropathy	HP:0040282	ORPHA:642
4914	NTRK1	HP:0002821	Neuropathic arthropathy	-	OMIM:256800
4914	NTRK1	HP:0002865	Medullary thyroid carcinoma	-	OMIM:155240
4914	NTRK1	HP:0001510	Growth delay	HP:0040283	ORPHA:642
4914	NTRK1	HP:0002936	Distal sensory impairment	HP:0040283	ORPHA:642
4914	NTRK1	HP:0006480	Premature loss of teeth	HP:0040282	ORPHA:642
4914	NTRK1	HP:0012332	Abnormal autonomic nervous system physiology	-	OMIM:256800
4914	NTRK1	HP:0025615	Abscess	HP:0040282	ORPHA:642
4914	NTRK1	HP:0005368	Abnormality of humoral immunity	HP:0040282	ORPHA:642
4914	NTRK1	HP:0005307	Postural hypotension with compensatory tachycardia	-	OMIM:256800
4914	NTRK1	HP:0011136	Aplasia of the sweat glands	HP:0040281	ORPHA:642
4914	NTRK1	HP:0000495	Recurrent corneal erosions	-	OMIM:256800
4914	NTRK1	HP:0000491	Keratitis	-	OMIM:256800
4914	NTRK1	HP:0000490	Deeply set eye	HP:0040282	ORPHA:64752
4914	NTRK1	HP:0000559	Corneal scarring	HP:0040284	ORPHA:642
4914	NTRK1	HP:0000559	Corneal scarring	-	OMIM:256800
4915	NTRK2	HP:0010864	Intellectual disability, severe	-	OMIM:617830
4915	NTRK2	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
4915	NTRK2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
4915	NTRK2	HP:0001290	Generalized hypotonia	2/4	OMIM:617830
4915	NTRK2	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0001250	Seizure	HP:0040284	OMIM:613886
4915	NTRK2	HP:0001250	Seizure	4/4	OMIM:617830
4915	NTRK2	HP:0001250	Seizure	HP:0040282	ORPHA:442835
4915	NTRK2	HP:0001252	Hypotonia	1/1	OMIM:613886
4915	NTRK2	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0001249	Intellectual disability	-	OMIM:613886
4915	NTRK2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
4915	NTRK2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
4915	NTRK2	HP:0001264	Spastic diplegia	1/4	OMIM:617830
4915	NTRK2	HP:0002591	Polyphagia	1/1	OMIM:613886
4915	NTRK2	HP:0001263	Global developmental delay	4/4	OMIM:617830
4915	NTRK2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
4915	NTRK2	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0002540	Inability to walk	1/4	OMIM:617830
4915	NTRK2	HP:0002521	Hypsarrhythmia	HP:0040281	ORPHA:697160
4915	NTRK2	HP:0002521	Hypsarrhythmia	1/4	OMIM:617830
4915	NTRK2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
4915	NTRK2	HP:0001347	Hyperreflexia	2/4	OMIM:617830
4915	NTRK2	HP:0001344	Absent speech	2/4	OMIM:617830
4915	NTRK2	HP:0001337	Tremor	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617830
4915	NTRK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613886
4915	NTRK2	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0001336	Myoclonus	HP:0040281	ORPHA:697160
4915	NTRK2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0002121	Generalized non-motor (absence) seizure	1/1	OMIM:613886
4915	NTRK2	HP:0002133	Status epilepticus	2/4	OMIM:617830
4915	NTRK2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
4915	NTRK2	HP:0003593	Infantile onset	1/1	OMIM:613886
4915	NTRK2	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0200134	Epileptic encephalopathy	-	OMIM:617830
4915	NTRK2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0011968	Feeding difficulties	2/4	OMIM:617830
4915	NTRK2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
4915	NTRK2	HP:0002376	Developmental regression	HP:0040281	ORPHA:697160
4915	NTRK2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
4915	NTRK2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0000639	Nystagmus	2/4	OMIM:617830
4915	NTRK2	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
4915	NTRK2	HP:0000648	Optic atrophy	2/4	OMIM:617830
4915	NTRK2	HP:0011344	Severe global developmental delay	1/1	OMIM:613886
4915	NTRK2	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0004322	Short stature	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0000733	Motor stereotypy	1/1	OMIM:613886
4915	NTRK2	HP:0000733	Motor stereotypy	1/4	OMIM:617830
4915	NTRK2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
4915	NTRK2	HP:0000717	Autism	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0000729	Autistic behavior	-	OMIM:613886
4915	NTRK2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:697160
4915	NTRK2	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
4915	NTRK2	HP:0000817	Reduced eye contact	-	OMIM:613886
4915	NTRK2	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
4915	NTRK2	HP:0001513	Obesity	1/1	OMIM:613886
4915	NTRK2	HP:0000348	High forehead	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0000324	Facial asymmetry	-	OMIM:613886
4915	NTRK2	HP:0012469	Infantile spasms	HP:0040281	ORPHA:697160
4915	NTRK2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0012448	Delayed myelination	1/4	OMIM:617830
4915	NTRK2	HP:0012448	Delayed myelination	HP:0040284	OMIM:613886
4915	NTRK2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:697160
4915	NTRK2	HP:0005484	Secondary microcephaly	1/4	OMIM:617830
4915	NTRK2	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
4915	NTRK2	HP:0000505	Visual impairment	1/4	OMIM:617830
4915	NTRK2	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
4915	NTRK2	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
4915	NTRK2	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
4919	ROR1	HP:0001270	Motor delay	0/2	OMIM:617654
4919	ROR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617654
4919	ROR1	HP:0003593	Infantile onset	-	OMIM:617654
4919	ROR1	HP:0008527	Congenital sensorineural hearing impairment	2/2	OMIM:617654
4919	ROR1	HP:0000612	Iris coloboma	1/2	OMIM:617654
4920	ROR2	HP:0001171	Split hand	HP:0040283	ORPHA:1507
4920	ROR2	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1507
4920	ROR2	HP:0001156	Brachydactyly	24/24	OMIM:268310
4920	ROR2	HP:0001159	Syndactyly	-	OMIM:113000
4920	ROR2	HP:0001159	Syndactyly	6/21	OMIM:268310
4920	ROR2	HP:0009883	Duplication of the distal phalanx of hand	-	OMIM:268310
4920	ROR2	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:1507
4920	ROR2	HP:0009882	Short distal phalanx of finger	1/2	OMIM:268310
4920	ROR2	HP:0008551	Microtia	2/21	OMIM:268310
4920	ROR2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4920	ROR2	HP:0001293	Cranial nerve compression	-	OMIM:131300
4920	ROR2	HP:0001252	Hypotonia	2/7	OMIM:615777
4920	ROR2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:1507
4920	ROR2	HP:0001249	Intellectual disability	-	OMIM:268310
4920	ROR2	HP:0001249	Intellectual disability	5/7	OMIM:615777
4920	ROR2	HP:0001263	Global developmental delay	-	OMIM:268310
4920	ROR2	HP:0001263	Global developmental delay	-	OMIM:615777
4920	ROR2	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:1507
4920	ROR2	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:1507
4920	ROR2	HP:0002515	Waddling gait	54/102	OMIM:131300
4920	ROR2	HP:0000064	Hypoplastic labia minora	4/11	OMIM:268310
4920	ROR2	HP:0000060	Clitoral hypoplasia	-	OMIM:268310
4920	ROR2	HP:0000059	Hypoplastic labia majora	2/11	OMIM:268310
4920	ROR2	HP:0000075	Renal duplication	-	OMIM:268310
4920	ROR2	HP:0000054	Micropenis	12/12	OMIM:268310
4920	ROR2	HP:0000054	Micropenis	-	OMIM:113000
4920	ROR2	HP:0001382	Joint hypermobility	1/2	OMIM:268310
4920	ROR2	HP:0001382	Joint hypermobility	-	OMIM:615777
4920	ROR2	HP:0000047	Hypospadias	2/10	OMIM:268310
4920	ROR2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:1507
4920	ROR2	HP:0000023	Inguinal hernia	3/19	OMIM:268310
4920	ROR2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4920	ROR2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1507
4920	ROR2	HP:0000028	Cryptorchidism	5/10	OMIM:268310
4920	ROR2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4920	ROR2	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:1507
4920	ROR2	HP:0006216	Single interphalangeal crease of fifth finger	1/2	OMIM:268310
4920	ROR2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4920	ROR2	HP:0001324	Muscle weakness	40/96	OMIM:131300
4920	ROR2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4920	ROR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:268310
4920	ROR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4920	ROR2	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:1507
4920	ROR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:113000
4920	ROR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4920	ROR2	HP:0002650	Scoliosis	HP:0040282	ORPHA:1507
4920	ROR2	HP:0002650	Scoliosis	12/14	OMIM:131300
4920	ROR2	HP:0002650	Scoliosis	16/24	OMIM:268310
4920	ROR2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4920	ROR2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4920	ROR2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4920	ROR2	HP:0000189	Narrow palate	7/17	OMIM:268310
4920	ROR2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4920	ROR2	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:1507
4920	ROR2	HP:0000158	Macroglossia	-	OMIM:268310
4920	ROR2	HP:0000175	Cleft palate	2/7	OMIM:615777
4920	ROR2	HP:0000171	Microglossia	6/17	OMIM:268310
4920	ROR2	HP:0000174	Abnormal palate morphology	HP:0040283	ORPHA:1507
4920	ROR2	HP:0000154	Wide mouth	HP:0040281	ORPHA:1507
4920	ROR2	HP:0000154	Wide mouth	1/2	OMIM:268310
4920	ROR2	HP:0005011	Mesomelic arm shortening	1/2	OMIM:268310
4920	ROR2	HP:0007598	Bilateral single transverse palmar creases	HP:0040283	ORPHA:1507
4920	ROR2	HP:0000121	Nephrocalcinosis	1/2	OMIM:268310
4920	ROR2	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1507
4920	ROR2	HP:0000126	Hydronephrosis	1/2	OMIM:268310
4920	ROR2	HP:0002750	Delayed skeletal maturation	-	OMIM:268310
4920	ROR2	HP:0002714	Downturned corners of mouth	HP:0040281	ORPHA:1507
4920	ROR2	HP:0002714	Downturned corners of mouth	17/22	OMIM:268310
4920	ROR2	HP:0002007	Frontal bossing	HP:0040282	ORPHA:1507
4920	ROR2	HP:0002007	Frontal bossing	1/2	OMIM:268310
4920	ROR2	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1507
4920	ROR2	HP:0011800	Midface retrusion	21/22	OMIM:268310
4920	ROR2	HP:0003388	Easy fatigability	36/76	OMIM:131300
4920	ROR2	HP:0009466	Radial deviation of finger	-	OMIM:268310
4920	ROR2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4920	ROR2	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	-	OMIM:268310
4920	ROR2	HP:0009473	Joint contracture of the hand	-	OMIM:113000
4920	ROR2	HP:0003422	Vertebral segmentation defect	HP:0040281	ORPHA:1507
4920	ROR2	HP:0011927	Short digit	-	OMIM:268310
4920	ROR2	HP:0002164	Nail dysplasia	8/21	OMIM:268310
4920	ROR2	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:1507
4920	ROR2	HP:0010554	Cutaneous finger syndactyly	HP:0040283	OMIM:113000
4920	ROR2	HP:0002263	Exaggerated cupid's bow	HP:0040283	ORPHA:1507
4920	ROR2	HP:0003577	Congenital onset	2/2	OMIM:268310
4920	ROR2	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:1507
4920	ROR2	HP:0100798	Fingernail dysplasia	HP:0040282	ORPHA:1507
4920	ROR2	HP:0003510	Severe short stature	7/7	OMIM:615777
4920	ROR2	HP:0001052	Nevus flammeus	-	OMIM:268310
4920	ROR2	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:1507
4920	ROR2	HP:0002315	Headache	-	OMIM:131300
4920	ROR2	HP:0004976	Knee dislocation	6/7	OMIM:615777
4920	ROR2	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	HP:0040281	OMIM:113000
4920	ROR2	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:1507
4920	ROR2	HP:0010804	Tented upper lip vermilion	1/2	OMIM:268310
4920	ROR2	HP:0010807	Open bite	HP:0040281	ORPHA:1507
4920	ROR2	HP:0009804	Tooth agenesis	3/10	OMIM:268310
4920	ROR2	HP:0009803	Short phalanx of finger	-	OMIM:615777
4920	ROR2	HP:0200055	Small hand	-	OMIM:268310
4920	ROR2	HP:0008467	Thoracic hemivertebrae	-	OMIM:268310
4920	ROR2	HP:0009763	Limb pain	63/92	OMIM:131300
4920	ROR2	HP:0003621	Juvenile onset	-	OMIM:131300
4920	ROR2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4920	ROR2	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:1507
4920	ROR2	HP:0010059	Broad hallux phalanx	HP:0040282	ORPHA:1507
4920	ROR2	HP:0004279	Short palm	19/22	OMIM:268310
4920	ROR2	HP:0004220	Short middle phalanx of the 5th finger	-	OMIM:268310
4920	ROR2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4920	ROR2	HP:0000637	Long palpebral fissure	15/22	OMIM:268310
4920	ROR2	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:1507
4920	ROR2	HP:6001056	Out-toeing	-	OMIM:131300
4920	ROR2	HP:0000651	Diplopia	-	OMIM:131300
4920	ROR2	HP:0001956	Truncal obesity	2/7	OMIM:615777
4920	ROR2	HP:0001903	Anemia	HP:0040283	OMIM:131300
4920	ROR2	HP:0010049	Short metacarpal	-	OMIM:615777
4920	ROR2	HP:0010055	Broad hallux	8/17	OMIM:268310
4920	ROR2	HP:0000696	Delayed eruption of permanent teeth	-	OMIM:268310
4920	ROR2	HP:0000696	Delayed eruption of permanent teeth	-	OMIM:113000
4920	ROR2	HP:0000678	Dental crowding	-	OMIM:615777
4920	ROR2	HP:0000678	Dental crowding	-	OMIM:268310
4920	ROR2	HP:0000670	Carious teeth	-	OMIM:131300
4920	ROR2	HP:0011304	Broad thumb	-	OMIM:113000
4920	ROR2	HP:0011304	Broad thumb	2/7	OMIM:615777
4920	ROR2	HP:0011304	Broad thumb	HP:0040282	ORPHA:1507
4920	ROR2	HP:0011304	Broad thumb	14/24	OMIM:268310
4920	ROR2	HP:0000668	Hypodontia	-	OMIM:615777
4920	ROR2	HP:0000668	Hypodontia	HP:0040283	ORPHA:1507
4920	ROR2	HP:0000664	Synophrys	-	OMIM:615777
4920	ROR2	HP:0004322	Short stature	22/22	OMIM:268310
4920	ROR2	HP:0005648	Bilateral ulnar hypoplasia	1/2	OMIM:268310
4920	ROR2	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	-	OMIM:113000
4920	ROR2	HP:0003083	Dislocated radial head	1/2	OMIM:268310
4920	ROR2	HP:0004397	Ectopic anus	HP:0040283	ORPHA:1507
4920	ROR2	HP:0004396	Poor appetite	-	OMIM:131300
4920	ROR2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4920	ROR2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4920	ROR2	HP:0003042	Elbow dislocation	HP:0040282	ORPHA:1507
4920	ROR2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4920	ROR2	HP:0003026	Short long bone	-	OMIM:113000
4920	ROR2	HP:0003026	Short long bone	7/7	OMIM:615777
4920	ROR2	HP:0003027	Mesomelia	22/22	OMIM:268310
4920	ROR2	HP:0003027	Mesomelia	HP:0040281	ORPHA:1507
4920	ROR2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4920	ROR2	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:1507
4920	ROR2	HP:0000767	Pectus excavatum	10/21	OMIM:268310
4920	ROR2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4920	ROR2	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:1507
4920	ROR2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4920	ROR2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4920	ROR2	HP:0000750	Delayed speech and language development	-	OMIM:615777
4920	ROR2	HP:0009177	Proximal/middle symphalangism of 5th finger	2/2	OMIM:268310
4920	ROR2	HP:0011461	Fetal onset	7/7	OMIM:615777
4920	ROR2	HP:0000774	Narrow chest	2/7	OMIM:615777
4920	ROR2	HP:0000787	Nephrolithiasis	1/2	OMIM:268310
4920	ROR2	HP:0003196	Short nose	HP:0040281	ORPHA:1507
4920	ROR2	HP:0003196	Short nose	22/22	OMIM:268310
4920	ROR2	HP:0000926	Platyspondyly	1/7	OMIM:615777
4920	ROR2	HP:0000921	Missing ribs	-	OMIM:268310
4920	ROR2	HP:0003180	Flat acetabular roof	-	OMIM:615777
4920	ROR2	HP:0000902	Rib fusion	20/24	OMIM:268310
4920	ROR2	HP:0000902	Rib fusion	HP:0040282	ORPHA:1507
4920	ROR2	HP:0004482	Relative macrocephaly	-	OMIM:615777
4920	ROR2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4920	ROR2	HP:0012815	Hypoplastic female external genitalia	HP:0040282	ORPHA:1507
4920	ROR2	HP:0000823	Delayed puberty	-	OMIM:131300
4920	ROR2	HP:0010292	Absent uvula	-	OMIM:268310
4920	ROR2	HP:0010297	Bifid tongue	17/22	OMIM:268310
4920	ROR2	HP:0010297	Bifid tongue	HP:0040282	ORPHA:1507
4920	ROR2	HP:0010296	Ankyloglossia	HP:0040282	ORPHA:1507
4920	ROR2	HP:0000894	Short clavicles	-	OMIM:615777
4920	ROR2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4920	ROR2	HP:0005831	Type B brachydactyly	-	OMIM:113000
4920	ROR2	HP:0003272	Abnormal hip bone morphology	HP:0040283	ORPHA:1507
4920	ROR2	HP:0004590	Hypoplastic sacrum	-	OMIM:268310
4920	ROR2	HP:0004590	Hypoplastic sacrum	-	OMIM:113000
4920	ROR2	HP:0000995	Melanocytic nevus	4/20	OMIM:268310
4920	ROR2	HP:0000954	Single transverse palmar crease	5/19	OMIM:268310
4920	ROR2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4920	ROR2	HP:0000960	Sacral dimple	HP:0040283	ORPHA:1507
4920	ROR2	HP:0000960	Sacral dimple	1/19	OMIM:268310
4920	ROR2	HP:0005819	Short middle phalanx of finger	-	OMIM:113000
4920	ROR2	HP:0000286	Epicanthus	HP:0040282	ORPHA:1507
4920	ROR2	HP:0000286	Epicanthus	7/22	OMIM:268310
4920	ROR2	HP:0000286	Epicanthus	1/7	OMIM:615777
4920	ROR2	HP:0000280	Coarse facial features	2/7	OMIM:615777
4920	ROR2	HP:0000278	Retrognathia	15/22	OMIM:268310
4920	ROR2	HP:0001596	Alopecia	HP:0040283	ORPHA:1507
4920	ROR2	HP:0000260	Wide anterior fontanel	-	OMIM:113000
4920	ROR2	HP:0000260	Wide anterior fontanel	-	OMIM:268310
4920	ROR2	HP:0000256	Macrocephaly	HP:0040282	ORPHA:1507
4920	ROR2	HP:0000256	Macrocephaly	-	OMIM:268310
4920	ROR2	HP:0000270	Delayed cranial suture closure	-	OMIM:113000
4920	ROR2	HP:0000270	Delayed cranial suture closure	-	OMIM:268310
4920	ROR2	HP:0000272	Malar flattening	-	OMIM:268310
4920	ROR2	HP:0002827	Hip dislocation	3/19	OMIM:268310
4920	ROR2	HP:0002827	Hip dislocation	3/7	OMIM:615777
4920	ROR2	HP:0030084	Clinodactyly	17/21	OMIM:268310
4920	ROR2	HP:0002808	Kyphosis	HP:0040282	ORPHA:1507
4920	ROR2	HP:0006394	Limited pronation/supination of forearm	13/20	OMIM:268310
4920	ROR2	HP:0005048	Synostosis of carpal bones	HP:0040283	ORPHA:1507
4920	ROR2	HP:0000252	Microcephaly	-	OMIM:615777
4920	ROR2	HP:0000219	Thin upper lip vermilion	13/22	OMIM:268310
4920	ROR2	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:1507
4920	ROR2	HP:0000212	Gingival overgrowth	17/22	OMIM:268310
4920	ROR2	HP:0002857	Genu valgum	-	OMIM:131300
4920	ROR2	HP:0001522	Death in infancy	HP:0040283	ORPHA:1507
4920	ROR2	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:1507
4920	ROR2	HP:0001537	Umbilical hernia	-	OMIM:268310
4920	ROR2	HP:0000207	Triangular mouth	17/24	OMIM:268310
4920	ROR2	HP:0000202	Orofacial cleft	5/22	OMIM:268310
4920	ROR2	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:1507
4920	ROR2	HP:0001533	Slender build	-	OMIM:131300
4920	ROR2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4920	ROR2	HP:0007807	Optic nerve compression	-	OMIM:131300
4920	ROR2	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:1507
4920	ROR2	HP:0012385	Camptodactyly	4/21	OMIM:268310
4920	ROR2	HP:0012385	Camptodactyly	-	OMIM:113000
4920	ROR2	HP:0012368	Flat face	7/7	OMIM:615777
4920	ROR2	HP:0012368	Flat face	-	OMIM:268310
4920	ROR2	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:1507
4920	ROR2	HP:0002937	Hemivertebrae	-	OMIM:113000
4920	ROR2	HP:0002937	Hemivertebrae	21/24	OMIM:268310
4920	ROR2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4920	ROR2	HP:0002948	Vertebral fusion	-	OMIM:268310
4920	ROR2	HP:0002948	Vertebral fusion	-	OMIM:113000
4920	ROR2	HP:0002944	Thoracolumbar scoliosis	-	OMIM:268310
4920	ROR2	HP:0002944	Thoracolumbar scoliosis	-	OMIM:113000
4920	ROR2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:1507
4920	ROR2	HP:0000365	Hearing impairment	10/67	OMIM:131300
4920	ROR2	HP:0000365	Hearing impairment	3/22	OMIM:268310
4920	ROR2	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1507
4920	ROR2	HP:0000358	Posteriorly rotated ears	-	OMIM:268310
4920	ROR2	HP:0000369	Low-set ears	14/21	OMIM:268310
4920	ROR2	HP:0000343	Long philtrum	HP:0040282	ORPHA:1507
4920	ROR2	HP:0000343	Long philtrum	11/22	OMIM:268310
4920	ROR2	HP:0000343	Long philtrum	1/7	OMIM:615777
4920	ROR2	HP:0011001	Increased bone mineral density	-	OMIM:131300
4920	ROR2	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:1507
4920	ROR2	HP:0000347	Micrognathia	HP:0040282	ORPHA:1507
4920	ROR2	HP:0000347	Micrognathia	15/22	OMIM:268310
4920	ROR2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1507
4920	ROR2	HP:0000316	Hypertelorism	23/24	OMIM:268310
4920	ROR2	HP:0000311	Round face	2/7	OMIM:615777
4920	ROR2	HP:0002986	Radial bowing	1/2	OMIM:268310
4920	ROR2	HP:0000322	Short philtrum	HP:0040283	ORPHA:1507
4920	ROR2	HP:0000322	Short philtrum	6/22	OMIM:268310
4920	ROR2	HP:0002984	Hypoplasia of the radius	1/2	OMIM:268310
4920	ROR2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:1507
4920	ROR2	HP:0001629	Ventricular septal defect	-	OMIM:113000
4920	ROR2	HP:0001627	Abnormal heart morphology	4/22	OMIM:268310
4920	ROR2	HP:0001641	Abnormal pulmonary valve morphology	HP:0040283	ORPHA:1507
4920	ROR2	HP:0002970	Genu varum	-	OMIM:615777
4920	ROR2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1507
4920	ROR2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1507
4920	ROR2	HP:0000303	Mandibular prognathia	-	OMIM:131300
4920	ROR2	HP:0001705	Right ventricular outlet tract obstruction	-	OMIM:268310
4920	ROR2	HP:0001702	Abnormal tricuspid valve morphology	HP:0040283	ORPHA:1507
4920	ROR2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1507
4920	ROR2	HP:0005280	Depressed nasal bridge	15/22	OMIM:268310
4920	ROR2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4920	ROR2	HP:0000486	Strabismus	HP:0040283	ORPHA:1507
4920	ROR2	HP:0000486	Strabismus	4/21	OMIM:268310
4920	ROR2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:1507
4920	ROR2	HP:0000494	Downslanted palpebral fissures	7/22	OMIM:268310
4920	ROR2	HP:0001792	Small nail	2/2	OMIM:268310
4920	ROR2	HP:0000463	Anteverted nares	HP:0040281	ORPHA:1507
4920	ROR2	HP:0000463	Anteverted nares	22/24	OMIM:268310
4920	ROR2	HP:0000470	Short neck	HP:0040283	ORPHA:1507
4920	ROR2	HP:0000470	Short neck	14/22	OMIM:268310
4920	ROR2	HP:0000470	Short neck	1/7	OMIM:615777
4920	ROR2	HP:0001798	Anonychia	-	OMIM:113000
4920	ROR2	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:1507
4920	ROR2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4920	ROR2	HP:0001763	Pes planus	1/7	OMIM:615777
4920	ROR2	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1507
4920	ROR2	HP:0000431	Wide nasal bridge	21/22	OMIM:268310
4920	ROR2	HP:0001840	Metatarsus adductus	-	OMIM:615777
4920	ROR2	HP:0000527	Long eyelashes	HP:0040282	ORPHA:1507
4920	ROR2	HP:0000527	Long eyelashes	16/22	OMIM:268310
4920	ROR2	HP:0001852	Sandal gap	HP:0040283	ORPHA:1507
4920	ROR2	HP:0000520	Proptosis	2/4	OMIM:131300
4920	ROR2	HP:0000520	Proptosis	HP:0040282	ORPHA:1507
4920	ROR2	HP:0000520	Proptosis	14/22	OMIM:268310
4920	ROR2	HP:0000520	Proptosis	7/7	OMIM:615777
4920	ROR2	HP:0001853	Bifid distal phalanx of toe	-	OMIM:268310
4920	ROR2	HP:0001837	Broad toe	-	OMIM:268310
4920	ROR2	HP:0000508	Ptosis	HP:0040283	ORPHA:1507
4920	ROR2	HP:0000508	Ptosis	3/22	OMIM:268310
4920	ROR2	HP:0001804	Hypoplastic fingernail	-	OMIM:113000
4920	ROR2	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:1507
4920	ROR2	HP:0000582	Upslanted palpebral fissure	11/22	OMIM:268310
4920	ROR2	HP:0000592	Blue sclerae	2/7	OMIM:615777
4920	ROR2	HP:0000592	Blue sclerae	HP:0040283	ORPHA:1507
4920	ROR2	HP:0011220	Prominent forehead	23/24	OMIM:268310
4920	ROR2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4920	ROR2	HP:0012514	Lower limb pain	4/4	OMIM:131300
4921	DDR2	HP:0001169	Broad palm	22/22	OMIM:271665
4921	DDR2	HP:0009931	Enlarged naris	17/22	OMIM:271665
4921	DDR2	HP:0009875	Triangular shaped distal phalanges of the hand	-	OMIM:271665
4921	DDR2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4921	DDR2	HP:0001293	Cranial nerve compression	-	OMIM:131300
4921	DDR2	HP:0001270	Motor delay	15/22	OMIM:271665
4921	DDR2	HP:0001252	Hypotonia	11/20	OMIM:271665
4921	DDR2	HP:0001252	Hypotonia	2/7	OMIM:615777
4921	DDR2	HP:0001249	Intellectual disability	5/7	OMIM:615777
4921	DDR2	HP:0001263	Global developmental delay	4/22	OMIM:271665
4921	DDR2	HP:0001263	Global developmental delay	-	OMIM:615777
4921	DDR2	HP:0001230	Broad metacarpals	-	OMIM:271665
4921	DDR2	HP:0001239	Wrist flexion contracture	2/6	OMIM:618175
4921	DDR2	HP:0006009	Broad phalanx	-	OMIM:271665
4921	DDR2	HP:0002515	Waddling gait	54/102	OMIM:131300
4921	DDR2	HP:0001386	Joint swelling	4/6	OMIM:618175
4921	DDR2	HP:0001382	Joint hypermobility	-	OMIM:615777
4921	DDR2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4921	DDR2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4921	DDR2	HP:0008873	Disproportionate short-limb short stature	20/20	OMIM:271665
4921	DDR2	HP:0007502	Follicular hyperkeratosis	1/6	OMIM:618175
4921	DDR2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4921	DDR2	HP:0001324	Muscle weakness	40/96	OMIM:131300
4921	DDR2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4921	DDR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4921	DDR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:271665
4921	DDR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618175
4921	DDR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4921	DDR2	HP:0002650	Scoliosis	-	OMIM:271665
4921	DDR2	HP:0002650	Scoliosis	12/14	OMIM:131300
4921	DDR2	HP:0002651	Spondyloepimetaphyseal dysplasia	-	OMIM:271665
4921	DDR2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4921	DDR2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4921	DDR2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4921	DDR2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4921	DDR2	HP:0000175	Cleft palate	2/7	OMIM:615777
4921	DDR2	HP:0002787	Tracheal calcification	-	OMIM:271665
4921	DDR2	HP:0002007	Frontal bossing	-	OMIM:271665
4921	DDR2	HP:0003311	Hypoplasia of the odontoid process	-	OMIM:271665
4921	DDR2	HP:0003320	C1-C2 subluxation	11/22	OMIM:271665
4921	DDR2	HP:0011800	Midface retrusion	-	OMIM:271665
4921	DDR2	HP:0011800	Midface retrusion	-	OMIM:618175
4921	DDR2	HP:0002091	Restrictive ventilatory defect	-	OMIM:271665
4921	DDR2	HP:0003396	Syringomyelia	-	OMIM:271665
4921	DDR2	HP:0003388	Easy fatigability	36/76	OMIM:131300
4921	DDR2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4921	DDR2	HP:0100593	Calcification of cartilage	9/22	OMIM:271665
4921	DDR2	HP:0003467	Atlantoaxial instability	-	OMIM:271665
4921	DDR2	HP:0002107	Pneumothorax	2/6	OMIM:618175
4921	DDR2	HP:0002176	Spinal cord compression	-	OMIM:271665
4921	DDR2	HP:0100720	Hypoplasia of the ear cartilage	2/5	OMIM:618175
4921	DDR2	HP:0010655	Epiphyseal stippling	-	OMIM:271665
4921	DDR2	HP:0003510	Severe short stature	7/7	OMIM:615777
4921	DDR2	HP:0430007	Symblepharon	-	OMIM:618175
4921	DDR2	HP:0001058	Poor wound healing	-	OMIM:618175
4921	DDR2	HP:0002315	Headache	-	OMIM:131300
4921	DDR2	HP:0004976	Knee dislocation	6/7	OMIM:615777
4921	DDR2	HP:0009803	Short phalanx of finger	8/20	OMIM:271665
4921	DDR2	HP:0009803	Short phalanx of finger	-	OMIM:615777
4921	DDR2	HP:0010783	Erythema	-	OMIM:618175
4921	DDR2	HP:0009797	Cholesteatoma	1/5	OMIM:618175
4921	DDR2	HP:0100689	Decreased corneal thickness	-	OMIM:618175
4921	DDR2	HP:0009771	Osteolytic defects of the phalanges of the hand	3/5	OMIM:618175
4921	DDR2	HP:0009763	Limb pain	63/92	OMIM:131300
4921	DDR2	HP:0003621	Juvenile onset	-	OMIM:131300
4921	DDR2	HP:0032107	Limbal stem cell deficiency	-	OMIM:618175
4921	DDR2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4921	DDR2	HP:0004279	Short palm	22/22	OMIM:271665
4921	DDR2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4921	DDR2	HP:6001056	Out-toeing	-	OMIM:131300
4921	DDR2	HP:0000651	Diplopia	-	OMIM:131300
4921	DDR2	HP:0001956	Truncal obesity	2/7	OMIM:615777
4921	DDR2	HP:0001903	Anemia	HP:0040283	OMIM:131300
4921	DDR2	HP:0010049	Short metacarpal	-	OMIM:271665
4921	DDR2	HP:0010049	Short metacarpal	-	OMIM:615777
4921	DDR2	HP:0000678	Dental crowding	-	OMIM:615777
4921	DDR2	HP:0000678	Dental crowding	1/6	OMIM:618175
4921	DDR2	HP:0000670	Carious teeth	-	OMIM:131300
4921	DDR2	HP:0011304	Broad thumb	2/7	OMIM:615777
4921	DDR2	HP:0000668	Hypodontia	-	OMIM:615777
4921	DDR2	HP:0000664	Synophrys	-	OMIM:615777
4921	DDR2	HP:0005622	Broad long bones	22/22	OMIM:271665
4921	DDR2	HP:0030674	Antenatal onset	2/2	OMIM:271665
4921	DDR2	HP:0003085	Long fibula	-	OMIM:271665
4921	DDR2	HP:0004396	Poor appetite	-	OMIM:131300
4921	DDR2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4921	DDR2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4921	DDR2	HP:0003015	Flared metaphysis	-	OMIM:271665
4921	DDR2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4921	DDR2	HP:0003026	Short long bone	22/22	OMIM:271665
4921	DDR2	HP:0003026	Short long bone	7/7	OMIM:615777
4921	DDR2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4921	DDR2	HP:0000767	Pectus excavatum	6/22	OMIM:271665
4921	DDR2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4921	DDR2	HP:0000768	Pectus carinatum	1/2	OMIM:271665
4921	DDR2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4921	DDR2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4921	DDR2	HP:0000750	Delayed speech and language development	-	OMIM:615777
4921	DDR2	HP:0011496	Corneal neovascularization	-	OMIM:618175
4921	DDR2	HP:0009164	Abnormal calcification of the carpal bones	-	OMIM:271665
4921	DDR2	HP:0012785	Flexion contracture of finger	-	OMIM:618175
4921	DDR2	HP:0011461	Fetal onset	7/7	OMIM:615777
4921	DDR2	HP:0000774	Narrow chest	15/22	OMIM:271665
4921	DDR2	HP:0000774	Narrow chest	2/7	OMIM:615777
4921	DDR2	HP:0000773	Short ribs	-	OMIM:271665
4921	DDR2	HP:0003196	Short nose	-	OMIM:271665
4921	DDR2	HP:0000926	Platyspondyly	22/22	OMIM:271665
4921	DDR2	HP:0000926	Platyspondyly	1/7	OMIM:615777
4921	DDR2	HP:0000922	Posterior rib cupping	-	OMIM:271665
4921	DDR2	HP:0003180	Flat acetabular roof	-	OMIM:615777
4921	DDR2	HP:0000907	Anterior rib cupping	-	OMIM:271665
4921	DDR2	HP:0004482	Relative macrocephaly	-	OMIM:615777
4921	DDR2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4921	DDR2	HP:0000823	Delayed puberty	-	OMIM:131300
4921	DDR2	HP:0000894	Short clavicles	-	OMIM:615777
4921	DDR2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4921	DDR2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4921	DDR2	HP:0000963	Thin skin	4/6	OMIM:618175
4921	DDR2	HP:0045025	Narrow palpebral fissure	5/5	OMIM:618175
4921	DDR2	HP:0009381	Short finger	2/2	OMIM:271665
4921	DDR2	HP:0000286	Epicanthus	-	OMIM:618175
4921	DDR2	HP:0000286	Epicanthus	1/7	OMIM:615777
4921	DDR2	HP:0000283	Broad face	13/20	OMIM:271665
4921	DDR2	HP:0000280	Coarse facial features	2/7	OMIM:615777
4921	DDR2	HP:0001591	Bell-shaped thorax	-	OMIM:271665
4921	DDR2	HP:0000260	Wide anterior fontanel	8/20	OMIM:271665
4921	DDR2	HP:0000276	Long face	4/6	OMIM:618175
4921	DDR2	HP:0000272	Malar flattening	-	OMIM:271665
4921	DDR2	HP:0006466	Ankle flexion contracture	1/6	OMIM:618175
4921	DDR2	HP:0002827	Hip dislocation	3/7	OMIM:615777
4921	DDR2	HP:0006380	Knee flexion contracture	-	OMIM:271665
4921	DDR2	HP:0000252	Microcephaly	-	OMIM:615777
4921	DDR2	HP:0000218	High palate	-	OMIM:271665
4921	DDR2	HP:0000218	High palate	2/6	OMIM:618175
4921	DDR2	HP:0000212	Gingival overgrowth	1/6	OMIM:618175
4921	DDR2	HP:0002857	Genu valgum	-	OMIM:131300
4921	DDR2	HP:0002869	Flared iliac wing	-	OMIM:271665
4921	DDR2	HP:0001533	Slender build	-	OMIM:131300
4921	DDR2	HP:0030043	Hip subluxation	-	OMIM:271665
4921	DDR2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4921	DDR2	HP:0007807	Optic nerve compression	-	OMIM:131300
4921	DDR2	HP:0012368	Flat face	7/7	OMIM:615777
4921	DDR2	HP:0005257	Thoracic hypoplasia	-	OMIM:271665
4921	DDR2	HP:0006532	Recurrent pneumonia	-	OMIM:271665
4921	DDR2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4921	DDR2	HP:0000365	Hearing impairment	10/67	OMIM:131300
4921	DDR2	HP:0000358	Posteriorly rotated ears	3/5	OMIM:618175
4921	DDR2	HP:0000369	Low-set ears	-	OMIM:618175
4921	DDR2	HP:0000343	Long philtrum	16/22	OMIM:271665
4921	DDR2	HP:0000343	Long philtrum	1/7	OMIM:615777
4921	DDR2	HP:0011001	Increased bone mineral density	-	OMIM:131300
4921	DDR2	HP:0000347	Micrognathia	-	OMIM:271665
4921	DDR2	HP:0002983	Micromelia	-	OMIM:271665
4921	DDR2	HP:0002979	Bowing of the legs	9/22	OMIM:271665
4921	DDR2	HP:0000316	Hypertelorism	19/22	OMIM:271665
4921	DDR2	HP:0000311	Round face	2/7	OMIM:615777
4921	DDR2	HP:0025616	Sterile abscess	1/6	OMIM:618175
4921	DDR2	HP:0000331	Short chin	1/6	OMIM:618175
4921	DDR2	HP:0002987	Elbow flexion contracture	-	OMIM:271665
4921	DDR2	HP:0002987	Elbow flexion contracture	1/6	OMIM:618175
4921	DDR2	HP:0002970	Genu varum	-	OMIM:615777
4921	DDR2	HP:0000303	Mandibular prognathia	-	OMIM:131300
4921	DDR2	HP:0006600	Progressive calcification of costochondral cartilage	-	OMIM:271665
4921	DDR2	HP:0000405	Conductive hearing impairment	2/5	OMIM:618175
4921	DDR2	HP:0005280	Depressed nasal bridge	-	OMIM:271665
4921	DDR2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4921	DDR2	HP:0000460	Narrow nose	6/6	OMIM:618175
4921	DDR2	HP:0011120	Concave nasal ridge	17/20	OMIM:271665
4921	DDR2	HP:0000457	Depressed nasal ridge	2/2	OMIM:271665
4921	DDR2	HP:0000470	Short neck	9/22	OMIM:271665
4921	DDR2	HP:0000470	Short neck	1/7	OMIM:615777
4921	DDR2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4921	DDR2	HP:0001763	Pes planus	1/7	OMIM:615777
4921	DDR2	HP:0000413	Atresia of the external auditory canal	1/5	OMIM:618175
4921	DDR2	HP:0000430	Underdeveloped nasal alae	3/6	OMIM:618175
4921	DDR2	HP:0005462	Calcification of falx cerebri	-	OMIM:271665
4921	DDR2	HP:0001840	Metatarsus adductus	-	OMIM:271665
4921	DDR2	HP:0001840	Metatarsus adductus	-	OMIM:615777
4921	DDR2	HP:0000520	Proptosis	2/4	OMIM:131300
4921	DDR2	HP:0000520	Proptosis	-	OMIM:271665
4921	DDR2	HP:0000520	Proptosis	7/7	OMIM:615777
4921	DDR2	HP:0000505	Visual impairment	3/4	OMIM:618175
4921	DDR2	HP:0000581	Blepharophimosis	-	OMIM:618175
4921	DDR2	HP:0000592	Blue sclerae	2/7	OMIM:615777
4921	DDR2	HP:0000556	Retinal dystrophy	1/3	OMIM:618175
4921	DDR2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4921	DDR2	HP:0012514	Lower limb pain	4/4	OMIM:131300
4926	NUMA1	HP:0031035	Chronic infection	HP:0040282	ORPHA:520
4926	NUMA1	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:520
4926	NUMA1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:520
4926	NUMA1	HP:0002653	Bone pain	HP:0040283	ORPHA:520
4926	NUMA1	HP:0025420	Diffuse alveolar hemorrhage	HP:0040283	ORPHA:520
4926	NUMA1	HP:0031245	Productive cough	HP:0040283	ORPHA:520
4926	NUMA1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:520
4926	NUMA1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:520
4926	NUMA1	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:520
4926	NUMA1	HP:0002039	Anorexia	HP:0040282	ORPHA:520
4926	NUMA1	HP:0011900	Hypofibrinogenemia	HP:0040283	ORPHA:520
4926	NUMA1	HP:0100758	Gangrene	HP:0040284	ORPHA:520
4926	NUMA1	HP:0002321	Vertigo	HP:0040282	ORPHA:520
4926	NUMA1	HP:0100608	Metrorrhagia	HP:0040284	ORPHA:520
4926	NUMA1	HP:0005521	Disseminated intravascular coagulation	HP:0040282	ORPHA:520
4926	NUMA1	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:520
4926	NUMA1	HP:0001945	Fever	HP:0040282	ORPHA:520
4926	NUMA1	HP:0001903	Anemia	HP:0040282	ORPHA:520
4926	NUMA1	HP:0000790	Hematuria	HP:0040284	ORPHA:520
4926	NUMA1	HP:0010280	Stomatitis	HP:0040283	ORPHA:520
4926	NUMA1	HP:0000979	Purpura	HP:0040282	ORPHA:520
4926	NUMA1	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:520
4926	NUMA1	HP:0000967	Petechiae	HP:0040282	ORPHA:520
4926	NUMA1	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:520
4926	NUMA1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:520
4926	NUMA1	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:520
4926	NUMA1	HP:0031364	Ecchymosis	HP:0040282	ORPHA:520
4926	NUMA1	HP:0012378	Fatigue	HP:0040282	ORPHA:520
4926	NUMA1	HP:0030140	Oral cavity bleeding	HP:0040283	ORPHA:520
4926	NUMA1	HP:0000421	Epistaxis	HP:0040282	ORPHA:520
4926	NUMA1	HP:0001824	Weight loss	HP:0040282	ORPHA:520
4926	NUMA1	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:520
4926	NUMA1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:520
4926	NUMA1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:520
4926	NUMA1	HP:0001876	Pancytopenia	HP:0040282	ORPHA:520
4926	NUMA1	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:520
4927	NUP88	HP:0010963	Absence of stomach bubble on fetal sonography	1/5	OMIM:618393
4927	NUP88	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:994
4927	NUP88	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:994
4927	NUP88	HP:0003811	Neonatal death	1/3	OMIM:618393
4927	NUP88	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:994
4927	NUP88	HP:0000028	Cryptorchidism	2/2	OMIM:618393
4927	NUP88	HP:0000007	Autosomal recessive inheritance	-	OMIM:618393
4927	NUP88	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:994
4927	NUP88	HP:0002650	Scoliosis	HP:0040282	ORPHA:994
4927	NUP88	HP:0000175	Cleft palate	HP:0040282	ORPHA:994
4927	NUP88	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:994
4927	NUP88	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:994
4927	NUP88	HP:0010489	Absent palmar crease	HP:0040281	ORPHA:994
4927	NUP88	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:994
4927	NUP88	HP:0003577	Congenital onset	-	OMIM:618393
4927	NUP88	HP:0001059	Pterygium	HP:0040283	ORPHA:994
4927	NUP88	HP:0002375	Hypokinesia	HP:0040281	ORPHA:994
4927	NUP88	HP:0002304	Akinesia	HP:0040281	ORPHA:994
4927	NUP88	HP:0001989	Fetal akinesia sequence	HP:0040281	ORPHA:994
4927	NUP88	HP:0034198	Second trimester onset	5/5	OMIM:618393
4927	NUP88	HP:0000878	11 pairs of ribs	2/3	OMIM:618393
4927	NUP88	HP:0034241	Prenatal death	2/3	OMIM:618393
4927	NUP88	HP:0003202	Skeletal muscle atrophy	3/5	OMIM:618393
4927	NUP88	HP:0000278	Retrognathia	3/3	OMIM:618393
4927	NUP88	HP:0002828	Multiple joint contractures	HP:0040281	ORPHA:994
4927	NUP88	HP:0002808	Kyphosis	1/5	OMIM:618393
4927	NUP88	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:994
4927	NUP88	HP:0002804	Arthrogryposis multiplex congenita	5/5	OMIM:618393
4927	NUP88	HP:0000218	High palate	3/3	OMIM:618393
4927	NUP88	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:994
4927	NUP88	HP:0001561	Polyhydramnios	2/5	OMIM:618393
4927	NUP88	HP:0001558	Decreased fetal movement	5/5	OMIM:618393
4927	NUP88	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:994
4927	NUP88	HP:0012385	Camptodactyly	3/5	OMIM:618393
4927	NUP88	HP:0025676	Fetal pleural effusion	1/5	OMIM:618393
4927	NUP88	HP:0005245	Intestinal hypoplasia	HP:0040283	ORPHA:994
4927	NUP88	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:994
4927	NUP88	HP:0000358	Posteriorly rotated ears	3/3	OMIM:618393
4927	NUP88	HP:0000369	Low-set ears	3/3	OMIM:618393
4927	NUP88	HP:0000347	Micrognathia	HP:0040281	ORPHA:994
4927	NUP88	HP:0000347	Micrognathia	3/3	OMIM:618393
4927	NUP88	HP:0000316	Hypertelorism	HP:0040282	ORPHA:994
4927	NUP88	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:994
4927	NUP88	HP:0000476	Cystic hygroma	HP:0040282	ORPHA:994
4927	NUP88	HP:0000475	Broad neck	1/3	OMIM:618393
4927	NUP88	HP:0000470	Short neck	1/3	OMIM:618393
4927	NUP88	HP:0000431	Wide nasal bridge	4/4	OMIM:618393
4927	NUP88	HP:0001838	Rocker bottom foot	1/5	OMIM:618393
4929	NR4A2	HP:0001188	Hand clenching	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0003785	Decreased CSF homovanillic acid concentration	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0003785	Decreased CSF homovanillic acid concentration	1/1	OMIM:619911
4929	NR4A2	HP:0002451	Limb dystonia	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0007325	Generalized dystonia	HP:0040283	ORPHA:98808
4929	NR4A2	HP:0007311	Short stepped shuffling gait	-	OMIM:168600
4929	NR4A2	HP:0003745	Sporadic	-	OMIM:168600
4929	NR4A2	HP:0100807	Long fingers	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0001256	Intellectual disability, mild	3/3	OMIM:619911
4929	NR4A2	HP:0001250	Seizure	1/1	OMIM:619911
4929	NR4A2	HP:0001250	Seizure	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0001251	Ataxia	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0001249	Intellectual disability	-	ORPHA:98808
4929	NR4A2	HP:0001260	Dysarthria	-	OMIM:168600
4929	NR4A2	HP:0001263	Global developmental delay	1/2	OMIM:619911
4929	NR4A2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0002529	Neuronal loss in central nervous system	-	OMIM:168600
4929	NR4A2	HP:0001370	Rheumatoid arthritis	HP:0040283	ORPHA:98808
4929	NR4A2	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0001332	Dystonia	-	OMIM:168600
4929	NR4A2	HP:0001332	Dystonia	2/2	OMIM:619911
4929	NR4A2	HP:0000012	Urinary urgency	-	OMIM:168600
4929	NR4A2	HP:0001337	Tremor	-	OMIM:168600
4929	NR4A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:168600
4929	NR4A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619911
4929	NR4A2	HP:0002650	Scoliosis	HP:0040283	ORPHA:98808
4929	NR4A2	HP:0001319	Neonatal hypotonia	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0001300	Parkinsonism	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0001300	Parkinsonism	2/2	OMIM:619911
4929	NR4A2	HP:0001300	Parkinsonism	-	OMIM:168600
4929	NR4A2	HP:0002601	Paresis of extensor muscles of the big toe	HP:0040283	ORPHA:98808
4929	NR4A2	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:1617
4929	NR4A2	HP:0000175	Cleft palate	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0002019	Constipation	-	OMIM:168600
4929	NR4A2	HP:0002015	Dysphagia	-	OMIM:168600
4929	NR4A2	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:619911
4929	NR4A2	HP:0002067	Bradykinesia	HP:0040283	ORPHA:98808
4929	NR4A2	HP:0002067	Bradykinesia	1/2	OMIM:619911
4929	NR4A2	HP:0002067	Bradykinesia	-	OMIM:168600
4929	NR4A2	HP:0002066	Gait ataxia	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0002063	Rigidity	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0002063	Rigidity	2/2	OMIM:619911
4929	NR4A2	HP:0002063	Rigidity	-	OMIM:168600
4929	NR4A2	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0003487	Babinski sign	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040283	ORPHA:98808
4929	NR4A2	HP:0002174	Postural tremor	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0002174	Postural tremor	1/2	OMIM:619911
4929	NR4A2	HP:0002172	Postural instability	-	OMIM:168600
4929	NR4A2	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0008297	Transient hyperphenylalaninemia	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0003593	Infantile onset	1/1	OMIM:619911
4929	NR4A2	HP:0003587	Insidious onset	-	OMIM:168600
4929	NR4A2	HP:0003584	Late onset	-	OMIM:168600
4929	NR4A2	HP:0003581	Adult onset	-	OMIM:168600
4929	NR4A2	HP:0011968	Feeding difficulties	1/1	OMIM:619911
4929	NR4A2	HP:0011960	Substantia nigra gliosis	-	OMIM:168600
4929	NR4A2	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0002360	Sleep abnormality	-	OMIM:168600
4929	NR4A2	HP:0003676	Progressive	-	OMIM:168600
4929	NR4A2	HP:0002322	Resting tremor	1/2	OMIM:619911
4929	NR4A2	HP:0002322	Resting tremor	-	OMIM:168600
4929	NR4A2	HP:0002312	Clumsiness	1/2	OMIM:619911
4929	NR4A2	HP:0002304	Akinesia	1/2	OMIM:619911
4929	NR4A2	HP:0031825	Freezing of gait	1/2	OMIM:619911
4929	NR4A2	HP:0010078	Bullet-shaped distal phalanx of the hallux	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:98808
4929	NR4A2	HP:0031908	Micrographia	-	OMIM:168600
4929	NR4A2	HP:0004373	Focal dystonia	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0000751	Personality changes	-	OMIM:168600
4929	NR4A2	HP:0000738	Hallucinations	HP:0040283	OMIM:168600
4929	NR4A2	HP:0000739	Anxiety	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0000750	Delayed speech and language development	2/3	OMIM:619911
4929	NR4A2	HP:0000716	Depression	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0000716	Depression	-	OMIM:168600
4929	NR4A2	HP:0000726	Dementia	-	OMIM:168600
4929	NR4A2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:1617
4929	NR4A2	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:98808
4929	NR4A2	HP:0000708	Atypical behavior	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0011463	Childhood onset	2/2	OMIM:619911
4929	NR4A2	HP:0100315	Lewy bodies	-	OMIM:168600
4929	NR4A2	HP:0000822	Hypertension	HP:0040283	ORPHA:98808
4929	NR4A2	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:98808
4929	NR4A2	HP:0005876	Progressive flexion contractures	HP:0040283	ORPHA:98808
4929	NR4A2	HP:0034316	Thinning of the substantia nigra pars compacta	1/2	OMIM:619911
4929	NR4A2	HP:0045007	Abnormal substantia nigra morphology	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0000298	Mask-like facies	-	OMIM:168600
4929	NR4A2	HP:0000274	Small face	HP:0040282	ORPHA:1617
4929	NR4A2	HP:0030007	EMG: positive sharp waves	1/1	OMIM:619911
4929	NR4A2	HP:0002871	Central apnea	HP:0040283	ORPHA:1617
4929	NR4A2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0001518	Small for gestational age	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0001510	Growth delay	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0012378	Fatigue	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	OMIM:168600
4929	NR4A2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:1617
4929	NR4A2	HP:0000322	Short philtrum	HP:0040282	ORPHA:1617
4929	NR4A2	HP:0001621	Weak voice	-	OMIM:168600
4929	NR4A2	HP:0011153	Focal motor seizure	1/1	OMIM:619911
4929	NR4A2	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0000473	Torticollis	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0000470	Short neck	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0001761	Pes cavus	HP:0040282	ORPHA:98808
4929	NR4A2	HP:0000518	Cataract	HP:0040282	ORPHA:1617
4929	NR4A2	HP:0000525	Abnormality iris morphology	HP:0040281	ORPHA:1617
4929	NR4A2	HP:0000589	Coloboma	HP:0040282	ORPHA:1617
4929	NR4A2	HP:0000568	Microphthalmia	HP:0040282	ORPHA:1617
4935	GPR143	HP:0001107	Ocular albinism	HP:0040281	ORPHA:54
4935	GPR143	HP:0001107	Ocular albinism	29/29	OMIM:300500
4935	GPR143	HP:0001103	Abnormal macular morphology	HP:0040282	ORPHA:54
4935	GPR143	HP:0001361	Nystagmus-induced head nodding	-	OMIM:300500
4935	GPR143	HP:0001480	Freckling	HP:0040282	ORPHA:54
4935	GPR143	HP:0007680	Depigmented fundus	-	OMIM:300500
4935	GPR143	HP:0007663	Reduced visual acuity	29/29	OMIM:300500
4935	GPR143	HP:0007663	Reduced visual acuity	6/6	OMIM:300814
4935	GPR143	HP:0001419	X-linked recessive inheritance	-	OMIM:300814
4935	GPR143	HP:0001417	X-linked inheritance	-	OMIM:300500
4935	GPR143	HP:0003593	Infantile onset	1/1	OMIM:300814
4935	GPR143	HP:0005592	Giant melanosomes in melanocytes	HP:0040283	ORPHA:54
4935	GPR143	HP:0005592	Giant melanosomes in melanocytes	10/12	OMIM:300500
4935	GPR143	HP:0000639	Nystagmus	29/29	OMIM:300500
4935	GPR143	HP:0000639	Nystagmus	HP:0040281	ORPHA:54
4935	GPR143	HP:0000646	Amblyopia	-	OMIM:300814
4935	GPR143	HP:0000613	Photophobia	HP:0040281	ORPHA:54
4935	GPR143	HP:0000613	Photophobia	29/29	OMIM:300500
4935	GPR143	HP:0000615	Abnormal pupil morphology	HP:0040281	ORPHA:54
4935	GPR143	HP:0000666	Horizontal nystagmus	5/6	OMIM:300814
4935	GPR143	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:54
4935	GPR143	HP:0007750	Hypoplasia of the fovea	HP:0040282	ORPHA:54
4935	GPR143	HP:0007750	Hypoplasia of the fovea	29/29	OMIM:300500
4935	GPR143	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:54
4935	GPR143	HP:0007814	Retinal pigment epithelial mottling	4/6	OMIM:300814
4935	GPR143	HP:0007894	Hypopigmentation of the fundus	0/6	OMIM:300814
4935	GPR143	HP:0000483	Astigmatism	5/6	OMIM:300814
4935	GPR143	HP:0000483	Astigmatism	HP:0040281	ORPHA:54
4935	GPR143	HP:0000486	Strabismus	HP:0040282	ORPHA:54
4935	GPR143	HP:0000505	Visual impairment	HP:0040283	ORPHA:54
4935	GPR143	HP:0000545	Myopia	HP:0040283	ORPHA:54
4938	OAS1	HP:0003819	Death in childhood	2/5	OMIM:618042
4938	OAS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618042
4938	OAS1	HP:0002093	Respiratory insufficiency	5/5	OMIM:618042
4938	OAS1	HP:0003593	Infantile onset	5/5	OMIM:618042
4938	OAS1	HP:0002205	Recurrent respiratory infections	3/3	OMIM:618042
4938	OAS1	HP:0001974	Increased total leukocyte count	5/5	OMIM:618042
4938	OAS1	HP:0004313	Decreased circulating immunoglobulin concentration	3/3	OMIM:618042
4938	OAS1	HP:0011421	Death in adolescence	1/5	OMIM:618042
4938	OAS1	HP:0001522	Death in infancy	2/5	OMIM:618042
4938	OAS1	HP:0006517	Intraalveolar phospholipid accumulation	5/5	OMIM:618042
4938	OAS1	HP:0001744	Splenomegaly	4/4	OMIM:618042
4942	OAT	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
4942	OAT	HP:0001133	Constriction of peripheral visual field	HP:0040282	ORPHA:414
4942	OAT	HP:0001103	Abnormal macular morphology	HP:0040282	ORPHA:414
4942	OAT	HP:0003701	Proximal muscle weakness	-	OMIM:258870
4942	OAT	HP:0001250	Seizure	HP:0040283	ORPHA:414
4942	OAT	HP:0012026	Hyperornithinemia	3/3	OMIM:258870
4942	OAT	HP:0012026	Hyperornithinemia	HP:0040281	ORPHA:414
4942	OAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
4942	OAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:258870
4942	OAT	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
4942	OAT	HP:0012152	Foveoschisis	1/1	OMIM:258870
4942	OAT	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
4942	OAT	HP:0007675	Progressive night blindness	HP:0040282	ORPHA:414
4942	OAT	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
4942	OAT	HP:0003355	Aminoaciduria	HP:0040282	ORPHA:414
4942	OAT	HP:0003457	EMG abnormality	-	OMIM:258870
4942	OAT	HP:0200065	Chorioretinal degeneration	HP:0040281	ORPHA:414
4942	OAT	HP:0003621	Juvenile onset	8/19	OMIM:180100
4942	OAT	HP:0000618	Blindness	HP:0040282	ORPHA:414
4942	OAT	HP:0000618	Blindness	-	OMIM:258870
4942	OAT	HP:0030498	Macular thickening	1/1	OMIM:258870
4942	OAT	HP:0000662	Nyctalopia	26/28	OMIM:180100
4942	OAT	HP:0000662	Nyctalopia	1/1	OMIM:258870
4942	OAT	HP:0011463	Childhood onset	3/19	OMIM:180100
4942	OAT	HP:0011463	Childhood onset	1/1	OMIM:258870
4942	OAT	HP:0011462	Young adult onset	8/19	OMIM:180100
4942	OAT	HP:0040031	Chorioretinal hyperpigmentation	HP:0040282	ORPHA:414
4942	OAT	HP:0001595	Abnormal hair morphology	HP:0040283	ORPHA:414
4942	OAT	HP:0007787	Posterior subcapsular cataract	-	OMIM:258870
4942	OAT	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
4942	OAT	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
4942	OAT	HP:0000365	Hearing impairment	HP:0040283	ORPHA:414
4942	OAT	HP:0000518	Cataract	HP:0040282	ORPHA:414
4942	OAT	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
4942	OAT	HP:0000529	Progressive visual loss	HP:0040281	ORPHA:414
4942	OAT	HP:0000523	Subcapsular cataract	HP:0040282	ORPHA:414
4942	OAT	HP:0000505	Visual impairment	1/1	OMIM:258870
4942	OAT	HP:0000575	Scotoma	5/18	OMIM:180100
4942	OAT	HP:0000533	Chorioretinal atrophy	1/1	OMIM:258870
4942	OAT	HP:0000533	Chorioretinal atrophy	HP:0040281	ORPHA:414
4942	OAT	HP:0000543	Optic disc pallor	1/1	OMIM:180100
4942	OAT	HP:0000545	Myopia	-	OMIM:180100
4942	OAT	HP:0000545	Myopia	HP:0040281	ORPHA:414
4942	OAT	HP:0000545	Myopia	-	OMIM:258870
4948	OCA2	HP:0002465	Poor speech	HP:0040283	ORPHA:98794
4948	OCA2	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:177904
4948	OCA2	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:177901
4948	OCA2	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:98754
4948	OCA2	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:98794
4948	OCA2	HP:0001100	Heterochromia iridis	HP:0040282	ORPHA:79432
4948	OCA2	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:98754
4948	OCA2	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:177904
4948	OCA2	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:177901
4948	OCA2	HP:0001250	Seizure	HP:0040283	ORPHA:177904
4948	OCA2	HP:0001250	Seizure	HP:0040283	ORPHA:177901
4948	OCA2	HP:0001250	Seizure	HP:0040281	ORPHA:98794
4948	OCA2	HP:0001250	Seizure	HP:0040283	ORPHA:98754
4948	OCA2	HP:0001252	Hypotonia	HP:0040282	ORPHA:177904
4948	OCA2	HP:0001252	Hypotonia	HP:0040282	ORPHA:177901
4948	OCA2	HP:0001252	Hypotonia	HP:0040282	ORPHA:98754
4948	OCA2	HP:0001251	Ataxia	HP:0040283	ORPHA:98794
4948	OCA2	HP:0002578	Gastroparesis	HP:0040283	ORPHA:177904
4948	OCA2	HP:0002578	Gastroparesis	HP:0040283	ORPHA:177901
4948	OCA2	HP:0002578	Gastroparesis	HP:0040283	ORPHA:98754
4948	OCA2	HP:0002591	Polyphagia	HP:0040282	ORPHA:98754
4948	OCA2	HP:0002591	Polyphagia	HP:0040281	ORPHA:177904
4948	OCA2	HP:0002591	Polyphagia	HP:0040282	ORPHA:177901
4948	OCA2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:177904
4948	OCA2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:177901
4948	OCA2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:98794
4948	OCA2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:98754
4948	OCA2	HP:0008770	Obsessive-compulsive trait	HP:0040282	ORPHA:177904
4948	OCA2	HP:0008770	Obsessive-compulsive trait	HP:0040282	ORPHA:177901
4948	OCA2	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:177904
4948	OCA2	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:177901
4948	OCA2	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:98754
4948	OCA2	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:177904
4948	OCA2	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:177901
4948	OCA2	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:98754
4948	OCA2	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:177904
4948	OCA2	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:177901
4948	OCA2	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:98754
4948	OCA2	HP:0012056	Cutaneous melanoma	HP:0040283	ORPHA:79432
4948	OCA2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:177904
4948	OCA2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:177901
4948	OCA2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:98754
4948	OCA2	HP:0000046	Small scrotum	HP:0040282	ORPHA:98754
4948	OCA2	HP:0000046	Small scrotum	HP:0040282	ORPHA:177904
4948	OCA2	HP:0000046	Small scrotum	HP:0040282	ORPHA:177901
4948	OCA2	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:98754
4948	OCA2	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:177904
4948	OCA2	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:177901
4948	OCA2	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:98754
4948	OCA2	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:177904
4948	OCA2	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:177901
4948	OCA2	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:98754
4948	OCA2	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:177904
4948	OCA2	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:177901
4948	OCA2	HP:0031169	Postterm pregnancy	HP:0040283	ORPHA:177904
4948	OCA2	HP:0031169	Postterm pregnancy	HP:0040283	ORPHA:177901
4948	OCA2	HP:0031169	Postterm pregnancy	HP:0040282	ORPHA:98754
4948	OCA2	HP:0007481	Hyperpigmented nevi	HP:0040284	ORPHA:79432
4948	OCA2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:98754
4948	OCA2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:177904
4948	OCA2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:177901
4948	OCA2	HP:0001344	Absent speech	HP:0040283	ORPHA:98794
4948	OCA2	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:79432
4948	OCA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:203200
4948	OCA2	HP:0001337	Tremor	HP:0040283	ORPHA:98794
4948	OCA2	HP:0001336	Myoclonus	HP:0040283	ORPHA:98794
4948	OCA2	HP:0002650	Scoliosis	HP:0040282	ORPHA:98794
4948	OCA2	HP:0002650	Scoliosis	HP:0040282	ORPHA:98754
4948	OCA2	HP:0002650	Scoliosis	HP:0040282	ORPHA:177904
4948	OCA2	HP:0002650	Scoliosis	HP:0040282	ORPHA:177901
4948	OCA2	HP:0031100	Decreased circulating inhibin B concentration	HP:0040283	ORPHA:177904
4948	OCA2	HP:0031100	Decreased circulating inhibin B concentration	HP:0040283	ORPHA:177901
4948	OCA2	HP:0031100	Decreased circulating inhibin B concentration	HP:0040283	ORPHA:98754
4948	OCA2	HP:0007603	Freckles in sun-exposed areas	-	OMIM:203200
4948	OCA2	HP:0012166	Skin-picking	HP:0040282	ORPHA:177904
4948	OCA2	HP:0012166	Skin-picking	HP:0040282	ORPHA:177901
4948	OCA2	HP:0012166	Skin-picking	HP:0040283	ORPHA:98754
4948	OCA2	HP:0000154	Wide mouth	HP:0040282	ORPHA:98794
4948	OCA2	HP:0001480	Freckling	HP:0040282	ORPHA:79432
4948	OCA2	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:79432
4948	OCA2	HP:0007663	Reduced visual acuity	-	OMIM:203200
4948	OCA2	HP:0008947	Floppy infant	HP:0040282	ORPHA:98794
4948	OCA2	HP:0012104	Parietal cortical atrophy	HP:0040282	ORPHA:177904
4948	OCA2	HP:0012104	Parietal cortical atrophy	HP:0040282	ORPHA:177901
4948	OCA2	HP:0012104	Parietal cortical atrophy	HP:0040282	ORPHA:98754
4948	OCA2	HP:0012105	Occipital cortical atrophy	HP:0040282	ORPHA:177904
4948	OCA2	HP:0012105	Occipital cortical atrophy	HP:0040282	ORPHA:177901
4948	OCA2	HP:0012105	Occipital cortical atrophy	HP:0040282	ORPHA:98754
4948	OCA2	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:98754
4948	OCA2	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:177904
4948	OCA2	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:177901
4948	OCA2	HP:0002019	Constipation	HP:0040282	ORPHA:98794
4948	OCA2	HP:0002033	Poor suck	HP:0040282	ORPHA:98794
4948	OCA2	HP:0002015	Dysphagia	HP:0040283	ORPHA:98794
4948	OCA2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:98794
4948	OCA2	HP:0002046	Heat intolerance	HP:0040283	ORPHA:98794
4948	OCA2	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:177904
4948	OCA2	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:177901
4948	OCA2	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:98754
4948	OCA2	HP:0011787	Central hypothyroidism	HP:0040282	ORPHA:177904
4948	OCA2	HP:0011787	Central hypothyroidism	HP:0040282	ORPHA:177901
4948	OCA2	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:98754
4948	OCA2	HP:0002141	Gait imbalance	HP:0040283	ORPHA:98794
4948	OCA2	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:98754
4948	OCA2	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:177904
4948	OCA2	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:177901
4948	OCA2	HP:0002136	Broad-based gait	HP:0040283	ORPHA:98794
4948	OCA2	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:98794
4948	OCA2	HP:0010505	Limitation of movement at ankles	HP:0040283	ORPHA:98794
4948	OCA2	HP:0100703	Tongue thrusting	HP:0040282	ORPHA:98794
4948	OCA2	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:177904
4948	OCA2	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:177901
4948	OCA2	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:98754
4948	OCA2	HP:0002227	White eyelashes	HP:0040283	ORPHA:79432
4948	OCA2	HP:0002226	White eyebrow	HP:0040282	ORPHA:79432
4948	OCA2	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:98754
4948	OCA2	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:177904
4948	OCA2	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:177901
4948	OCA2	HP:0100738	Abnormal eating behavior	HP:0040282	ORPHA:98794
4948	OCA2	HP:0100739	Bulimia	HP:0040283	ORPHA:177904
4948	OCA2	HP:0100739	Bulimia	HP:0040282	ORPHA:177901
4948	OCA2	HP:0100739	Bulimia	HP:0040283	ORPHA:98754
4948	OCA2	HP:0002297	Red hair	-	OMIM:203200
4948	OCA2	HP:0200098	Absent skin pigmentation	HP:0040283	ORPHA:79432
4948	OCA2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:98794
4948	OCA2	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:177904
4948	OCA2	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:177901
4948	OCA2	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:98754
4948	OCA2	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:98794
4948	OCA2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:98754
4948	OCA2	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:177904
4948	OCA2	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:177901
4948	OCA2	HP:0002342	Intellectual disability, moderate	HP:0040284	ORPHA:98754
4948	OCA2	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:177904
4948	OCA2	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:177901
4948	OCA2	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:98794
4948	OCA2	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:177904
4948	OCA2	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:177901
4948	OCA2	HP:0001010	Hypopigmentation of the skin	HP:0040284	ORPHA:98754
4948	OCA2	HP:0001010	Hypopigmentation of the skin	-	OMIM:203200
4948	OCA2	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:79432
4948	OCA2	HP:0001022	Albinism	-	OMIM:203200
4948	OCA2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:98794
4948	OCA2	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:177904
4948	OCA2	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:177901
4948	OCA2	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:98754
4948	OCA2	HP:0010808	Protruding tongue	HP:0040282	ORPHA:98794
4948	OCA2	HP:0200055	Small hand	HP:0040282	ORPHA:177904
4948	OCA2	HP:0200055	Small hand	HP:0040282	ORPHA:177901
4948	OCA2	HP:0200055	Small hand	HP:0040282	ORPHA:98754
4948	OCA2	HP:0010741	Pedal edema	HP:0040283	ORPHA:98754
4948	OCA2	HP:0010741	Pedal edema	HP:0040283	ORPHA:177904
4948	OCA2	HP:0010741	Pedal edema	HP:0040283	ORPHA:177901
4948	OCA2	HP:0002307	Drooling	HP:0040282	ORPHA:98794
4948	OCA2	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:177904
4948	OCA2	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:177901
4948	OCA2	HP:0005599	Hypopigmentation of hair	HP:0040284	ORPHA:98754
4948	OCA2	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:98794
4948	OCA2	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:177904
4948	OCA2	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:177901
4948	OCA2	HP:0005599	Hypopigmentation of hair	-	OMIM:203200
4948	OCA2	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:79432
4948	OCA2	HP:0006889	Intellectual disability, borderline	HP:0040283	ORPHA:177904
4948	OCA2	HP:0006889	Intellectual disability, borderline	HP:0040283	ORPHA:177901
4948	OCA2	HP:0006889	Intellectual disability, borderline	HP:0040282	ORPHA:98754
4948	OCA2	HP:0000639	Nystagmus	HP:0040282	ORPHA:79432
4948	OCA2	HP:0000639	Nystagmus	-	OMIM:203200
4948	OCA2	HP:0000635	Blue irides	-	OMIM:203200
4948	OCA2	HP:0000635	Blue irides	HP:0040282	ORPHA:79432
4948	OCA2	HP:0000613	Photophobia	HP:0040282	ORPHA:79432
4948	OCA2	HP:0011364	White hair	HP:0040282	ORPHA:79432
4948	OCA2	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:98794
4948	OCA2	HP:0012650	Perisylvian polymicrogyria	HP:0040282	ORPHA:177904
4948	OCA2	HP:0012650	Perisylvian polymicrogyria	HP:0040282	ORPHA:177901
4948	OCA2	HP:0012650	Perisylvian polymicrogyria	HP:0040282	ORPHA:98754
4948	OCA2	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:177904
4948	OCA2	HP:0004322	Short stature	HP:0040282	ORPHA:177904
4948	OCA2	HP:0004322	Short stature	HP:0040282	ORPHA:177901
4948	OCA2	HP:0004322	Short stature	HP:0040282	ORPHA:98754
4948	OCA2	HP:0004302	Functional motor deficit	HP:0040282	ORPHA:98794
4948	OCA2	HP:0000752	Hyperactivity	HP:0040282	ORPHA:98794
4948	OCA2	HP:0100022	Abnormality of movement	HP:0040283	ORPHA:98794
4948	OCA2	HP:0100023	Recurrent hand flapping	HP:0040283	ORPHA:98794
4948	OCA2	HP:0000736	Short attention span	HP:0040282	ORPHA:98794
4948	OCA2	HP:0000748	Inappropriate laughter	HP:0040282	ORPHA:98794
4948	OCA2	HP:0000717	Autism	HP:0040282	ORPHA:177904
4948	OCA2	HP:0000717	Autism	HP:0040282	ORPHA:177901
4948	OCA2	HP:0000717	Autism	HP:0040282	ORPHA:98754
4948	OCA2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:98794
4948	OCA2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:98754
4948	OCA2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:177904
4948	OCA2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:177901
4948	OCA2	HP:0000709	Psychosis	HP:0040282	ORPHA:177904
4948	OCA2	HP:0000709	Psychosis	HP:0040282	ORPHA:177901
4948	OCA2	HP:0000709	Psychosis	HP:0040282	ORPHA:98754
4948	OCA2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:98754
4948	OCA2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:177904
4948	OCA2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:177901
4948	OCA2	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:98794
4948	OCA2	HP:0000789	Infertility	HP:0040282	ORPHA:98754
4948	OCA2	HP:0000789	Infertility	HP:0040282	ORPHA:177904
4948	OCA2	HP:0000789	Infertility	HP:0040282	ORPHA:177901
4948	OCA2	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:177904
4948	OCA2	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:177901
4948	OCA2	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:98754
4948	OCA2	HP:0004485	Cessation of head growth	HP:0040281	ORPHA:98794
4948	OCA2	HP:0012805	Iris transillumination defect	HP:0040282	ORPHA:79432
4948	OCA2	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:177904
4948	OCA2	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:177901
4948	OCA2	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:98754
4948	OCA2	HP:0000826	Precocious puberty	HP:0040284	ORPHA:98754
4948	OCA2	HP:0000826	Precocious puberty	HP:0040284	ORPHA:177904
4948	OCA2	HP:0000826	Precocious puberty	HP:0040284	ORPHA:177901
4948	OCA2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:177904
4948	OCA2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:177901
4948	OCA2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:98754
4948	OCA2	HP:0000823	Delayed puberty	HP:0040282	ORPHA:177904
4948	OCA2	HP:0000823	Delayed puberty	HP:0040282	ORPHA:177901
4948	OCA2	HP:0000823	Delayed puberty	HP:0040282	ORPHA:98754
4948	OCA2	HP:0040082	Happy demeanor	HP:0040282	ORPHA:98794
4948	OCA2	HP:0030856	Posterior staphyloma	HP:0040283	ORPHA:79432
4948	OCA2	HP:0003241	External genital hypoplasia	HP:0040282	ORPHA:98754
4948	OCA2	HP:0003241	External genital hypoplasia	HP:0040282	ORPHA:177904
4948	OCA2	HP:0003241	External genital hypoplasia	HP:0040282	ORPHA:177901
4948	OCA2	HP:0033063	Shortened sleep phase	HP:0040283	ORPHA:98794
4948	OCA2	HP:0000939	Osteoporosis	HP:0040283	ORPHA:98754
4948	OCA2	HP:0000939	Osteoporosis	HP:0040283	ORPHA:177904
4948	OCA2	HP:0000939	Osteoporosis	HP:0040283	ORPHA:177901
4948	OCA2	HP:0000938	Osteopenia	HP:0040283	ORPHA:98754
4948	OCA2	HP:0000938	Osteopenia	HP:0040283	ORPHA:177904
4948	OCA2	HP:0000938	Osteopenia	HP:0040283	ORPHA:177901
4948	OCA2	HP:0040196	Mild microcephaly	HP:0040283	ORPHA:98794
4948	OCA2	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:79432
4948	OCA2	HP:0025551	Optic nerve misrouting	HP:0040282	ORPHA:79432
4948	OCA2	HP:0007750	Hypoplasia of the fovea	-	OMIM:203200
4948	OCA2	HP:0007750	Hypoplasia of the fovea	HP:0040282	ORPHA:79432
4948	OCA2	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:98794
4948	OCA2	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:177904
4948	OCA2	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:177901
4948	OCA2	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:79432
4948	OCA2	HP:0007730	Iris hypopigmentation	HP:0040284	ORPHA:98754
4948	OCA2	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:177901
4948	OCA2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:98754
4948	OCA2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:177904
4948	OCA2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:177901
4948	OCA2	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:98754
4948	OCA2	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:177904
4948	OCA2	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:177901
4948	OCA2	HP:0002871	Central apnea	HP:0040283	ORPHA:177904
4948	OCA2	HP:0002871	Central apnea	HP:0040283	ORPHA:177901
4948	OCA2	HP:0002871	Central apnea	HP:0040283	ORPHA:98754
4948	OCA2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:98754
4948	OCA2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:177904
4948	OCA2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:177901
4948	OCA2	HP:0001518	Small for gestational age	HP:0040283	ORPHA:98754
4948	OCA2	HP:0001518	Small for gestational age	HP:0040283	ORPHA:177904
4948	OCA2	HP:0001518	Small for gestational age	HP:0040283	ORPHA:177901
4948	OCA2	HP:0001513	Obesity	HP:0040281	ORPHA:98754
4948	OCA2	HP:0001513	Obesity	HP:0040282	ORPHA:98794
4948	OCA2	HP:0001513	Obesity	HP:0040281	ORPHA:177904
4948	OCA2	HP:0001513	Obesity	HP:0040281	ORPHA:177901
4948	OCA2	HP:0031507	Decreased circulating T4 concentration	HP:0040282	ORPHA:177904
4948	OCA2	HP:0031507	Decreased circulating T4 concentration	HP:0040282	ORPHA:177901
4948	OCA2	HP:0031507	Decreased circulating T4 concentration	HP:0040283	ORPHA:98754
4948	OCA2	HP:0007894	Hypopigmentation of the fundus	-	OMIM:203200
4948	OCA2	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:177904
4948	OCA2	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:177901
4948	OCA2	HP:0007874	Almond-shaped palpebral fissure	HP:0040283	ORPHA:98754
4948	OCA2	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:98794
4948	OCA2	HP:0007988	Macular hypopigmentation	HP:0040282	ORPHA:79432
4948	OCA2	HP:0000486	Strabismus	HP:0040282	ORPHA:98794
4948	OCA2	HP:0000486	Strabismus	HP:0040282	ORPHA:98754
4948	OCA2	HP:0000486	Strabismus	HP:0040282	ORPHA:177904
4948	OCA2	HP:0000486	Strabismus	HP:0040282	ORPHA:177901
4948	OCA2	HP:0000486	Strabismus	-	OMIM:203200
4948	OCA2	HP:0012448	Delayed myelination	HP:0040282	ORPHA:98794
4948	OCA2	HP:0001773	Short foot	HP:0040282	ORPHA:177904
4948	OCA2	HP:0001773	Short foot	HP:0040282	ORPHA:177901
4948	OCA2	HP:0001773	Short foot	HP:0040282	ORPHA:98754
4948	OCA2	HP:0012411	Premature pubarche	HP:0040282	ORPHA:177904
4948	OCA2	HP:0012411	Premature pubarche	HP:0040282	ORPHA:177901
4948	OCA2	HP:0012411	Premature pubarche	HP:0040283	ORPHA:98754
4948	OCA2	HP:0012412	Premature adrenarche	HP:0040282	ORPHA:177904
4948	OCA2	HP:0012412	Premature adrenarche	HP:0040282	ORPHA:177901
4948	OCA2	HP:0012412	Premature adrenarche	HP:0040283	ORPHA:98754
4948	OCA2	HP:0006739	Squamous cell carcinoma of the skin	HP:0040283	ORPHA:79432
4948	OCA2	HP:0005484	Secondary microcephaly	HP:0040281	ORPHA:98794
4948	OCA2	HP:0005469	Flat occiput	HP:0040282	ORPHA:98794
4948	OCA2	HP:0000505	Visual impairment	-	OMIM:203200
4948	OCA2	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:177904
4948	OCA2	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:177901
4948	OCA2	HP:0030339	Decreased circulating gonadotropin concentration	HP:0040282	ORPHA:177904
4948	OCA2	HP:0030339	Decreased circulating gonadotropin concentration	HP:0040282	ORPHA:177901
4948	OCA2	HP:0030339	Decreased circulating gonadotropin concentration	HP:0040282	ORPHA:98754
4948	OCA2	HP:0000577	Exotropia	-	OMIM:203200
4948	OCA2	HP:0011203	EEG with abnormally slow frequencies	HP:0040281	ORPHA:98794
4948	OCA2	HP:0000539	Abnormality of refraction	HP:0040282	ORPHA:79432
4948	OCA2	HP:0000545	Myopia	-	OMIM:203200
4952	OCRL	HP:0025131	Finger swelling	-	OMIM:309000
4952	OCRL	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:309000
4952	OCRL	HP:6000615	Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts	-	OMIM:309000
4952	OCRL	HP:0100820	Glomerulopathy	HP:0040281	ORPHA:534
4952	OCRL	HP:0100825	Cheilitis	HP:0040283	ORPHA:534
4952	OCRL	HP:0001284	Areflexia	-	OMIM:309000
4952	OCRL	HP:0001284	Areflexia	HP:0040281	ORPHA:534
4952	OCRL	HP:0100835	Benign neoplasm of the central nervous system	HP:0040282	ORPHA:534
4952	OCRL	HP:0001250	Seizure	HP:0040282	ORPHA:534
4952	OCRL	HP:0001250	Seizure	-	OMIM:309000
4952	OCRL	HP:0001252	Hypotonia	-	OMIM:309000
4952	OCRL	HP:0001249	Intellectual disability	HP:0040281	ORPHA:534
4952	OCRL	HP:0001249	Intellectual disability	-	OMIM:309000
4952	OCRL	HP:0001263	Global developmental delay	-	OMIM:309000
4952	OCRL	HP:0001225	Wrist swelling	-	OMIM:309000
4952	OCRL	HP:0000083	Renal insufficiency	-	OMIM:309000
4952	OCRL	HP:0000083	Renal insufficiency	HP:0040281	ORPHA:534
4952	OCRL	HP:0000091	Abnormal renal tubule morphology	HP:0040281	ORPHA:534
4952	OCRL	HP:0000093	Proteinuria	HP:0040281	ORPHA:534
4952	OCRL	HP:0001369	Arthritis	HP:0040282	ORPHA:534
4952	OCRL	HP:0001386	Joint swelling	HP:0040282	ORPHA:534
4952	OCRL	HP:0001387	Joint stiffness	HP:0040283	ORPHA:534
4952	OCRL	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:534
4952	OCRL	HP:0001382	Joint hypermobility	-	OMIM:309000
4952	OCRL	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:534
4952	OCRL	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:534
4952	OCRL	HP:0000028	Cryptorchidism	-	OMIM:309000
4952	OCRL	HP:0000027	Azoospermia	HP:0040283	ORPHA:534
4952	OCRL	HP:0008897	Postnatal growth retardation	-	OMIM:309000
4952	OCRL	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:534
4952	OCRL	HP:0007513	Generalized hypopigmentation	HP:0040282	ORPHA:534
4952	OCRL	HP:0002650	Scoliosis	HP:0040282	ORPHA:534
4952	OCRL	HP:0002650	Scoliosis	-	OMIM:309000
4952	OCRL	HP:0001319	Neonatal hypotonia	-	OMIM:309000
4952	OCRL	HP:0001319	Neonatal hypotonia	HP:0040281	ORPHA:534
4952	OCRL	HP:0000189	Narrow palate	HP:0040283	ORPHA:534
4952	OCRL	HP:0000194	Open mouth	HP:0040283	ORPHA:534
4952	OCRL	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:534
4952	OCRL	HP:0025435	Increased circulating lactate dehydrogenase concentration	2/5	OMIM:300555
4952	OCRL	HP:0025435	Increased circulating lactate dehydrogenase concentration	-	OMIM:309000
4952	OCRL	HP:0001482	Subcutaneous nodule	-	OMIM:309000
4952	OCRL	HP:0007663	Reduced visual acuity	-	OMIM:309000
4952	OCRL	HP:0006297	Enamel hypoplasia	-	OMIM:309000
4952	OCRL	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:534
4952	OCRL	HP:0000121	Nephrocalcinosis	1/5	OMIM:300555
4952	OCRL	HP:0000114	Proximal tubulopathy	-	OMIM:300555
4952	OCRL	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:534
4952	OCRL	HP:0002756	Pathologic fracture	-	OMIM:309000
4952	OCRL	HP:0001419	X-linked recessive inheritance	-	OMIM:300555
4952	OCRL	HP:0001419	X-linked recessive inheritance	-	OMIM:309000
4952	OCRL	HP:0002748	Rickets	-	OMIM:309000
4952	OCRL	HP:0002749	Osteomalacia	-	OMIM:309000
4952	OCRL	HP:0002749	Osteomalacia	HP:0040282	ORPHA:534
4952	OCRL	HP:0003355	Aminoaciduria	2/5	OMIM:300555
4952	OCRL	HP:0003355	Aminoaciduria	-	OMIM:309000
4952	OCRL	HP:0003355	Aminoaciduria	HP:0040281	ORPHA:534
4952	OCRL	HP:0002024	Malabsorption	HP:0040283	ORPHA:534
4952	OCRL	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:534
4952	OCRL	HP:0002019	Constipation	-	OMIM:309000
4952	OCRL	HP:0002019	Constipation	HP:0040282	ORPHA:534
4952	OCRL	HP:0002002	Deep philtrum	HP:0040283	ORPHA:534
4952	OCRL	HP:0002007	Frontal bossing	HP:0040282	ORPHA:534
4952	OCRL	HP:0004639	Elevated amniotic fluid alpha-fetoprotein	-	OMIM:309000
4952	OCRL	HP:0100530	Abnormal circulating calcium-phosphate regulating hormone concentration	HP:0040282	ORPHA:534
4952	OCRL	HP:0100543	Cognitive impairment	-	OMIM:300555
4952	OCRL	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:534
4952	OCRL	HP:0100512	Decreased circulating vitamin D concentration	HP:0040282	ORPHA:534
4952	OCRL	HP:0002049	Proximal renal tubular acidosis	HP:0040281	ORPHA:534
4952	OCRL	HP:0002049	Proximal renal tubular acidosis	-	OMIM:309000
4952	OCRL	HP:0100589	Urogenital fistula	HP:0040283	ORPHA:534
4952	OCRL	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:534
4952	OCRL	HP:0010471	Oligosacchariduria	HP:0040283	ORPHA:534
4952	OCRL	HP:0009473	Joint contracture of the hand	-	OMIM:309000
4952	OCRL	HP:0002151	Increased circulating lactate concentration	HP:0040283	ORPHA:534
4952	OCRL	HP:0002150	Hypercalciuria	5/5	OMIM:300555
4952	OCRL	HP:0002150	Hypercalciuria	HP:0040281	ORPHA:534
4952	OCRL	HP:0002148	Hypophosphatemia	3/5	OMIM:300555
4952	OCRL	HP:0002148	Hypophosphatemia	HP:0040283	ORPHA:534
4952	OCRL	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:534
4952	OCRL	HP:0002119	Ventriculomegaly	-	OMIM:309000
4952	OCRL	HP:0002169	Clonus	HP:0040282	ORPHA:534
4952	OCRL	HP:0100490	Camptodactyly of finger	-	OMIM:309000
4952	OCRL	HP:0100493	Hypoammonemia	HP:0040283	ORPHA:534
4952	OCRL	HP:0010562	Keloids	-	OMIM:309000
4952	OCRL	HP:0003577	Congenital onset	-	OMIM:309000
4952	OCRL	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:534
4952	OCRL	HP:0002213	Fine hair	HP:0040282	ORPHA:534
4952	OCRL	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:534
4952	OCRL	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:534
4952	OCRL	HP:0100750	Atelectasis	HP:0040283	ORPHA:534
4952	OCRL	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:534
4952	OCRL	HP:0002381	Aphasia	HP:0040281	ORPHA:534
4952	OCRL	HP:0002353	EEG abnormality	HP:0040282	ORPHA:534
4952	OCRL	HP:0003646	Bicarbonaturia	-	OMIM:309000
4952	OCRL	HP:0010807	Open bite	HP:0040283	ORPHA:534
4952	OCRL	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:534
4952	OCRL	HP:0100612	Odontogenic neoplasm	HP:0040283	ORPHA:534
4952	OCRL	HP:0200042	Skin ulcer	HP:0040283	ORPHA:534
4952	OCRL	HP:0007109	Periventricular cysts	-	OMIM:309000
4952	OCRL	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:534
4952	OCRL	HP:0012622	Chronic kidney disease	-	OMIM:300555
4952	OCRL	HP:0000639	Nystagmus	HP:0040281	ORPHA:534
4952	OCRL	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:534
4952	OCRL	HP:0000646	Amblyopia	HP:0040281	ORPHA:534
4952	OCRL	HP:0001944	Dehydration	HP:0040281	ORPHA:534
4952	OCRL	HP:0000615	Abnormal pupil morphology	HP:0040281	ORPHA:534
4952	OCRL	HP:0001903	Anemia	HP:0040283	ORPHA:534
4952	OCRL	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:534
4952	OCRL	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:534
4952	OCRL	HP:0011342	Mild global developmental delay	3/4	OMIM:300555
4952	OCRL	HP:0000679	Taurodontia	HP:0040283	ORPHA:534
4952	OCRL	HP:0000678	Dental crowding	HP:0040283	ORPHA:534
4952	OCRL	HP:0000670	Carious teeth	HP:0040283	ORPHA:534
4952	OCRL	HP:0001994	Renal Fanconi syndrome	-	OMIM:309000
4952	OCRL	HP:0004322	Short stature	HP:0040281	ORPHA:534
4952	OCRL	HP:0004322	Short stature	1/5	OMIM:300555
4952	OCRL	HP:0004322	Short stature	-	OMIM:309000
4952	OCRL	HP:0031956	Elevated circulating aspartate aminotransferase concentration	2/5	OMIM:300555
4952	OCRL	HP:0031964	Elevated circulating alanine aminotransferase concentration	2/5	OMIM:300555
4952	OCRL	HP:0000772	Abnormal rib morphology	HP:0040283	ORPHA:534
4952	OCRL	HP:0000739	Anxiety	HP:0040281	ORPHA:534
4952	OCRL	HP:0000733	Motor stereotypy	-	OMIM:309000
4952	OCRL	HP:0000733	Motor stereotypy	HP:0040281	ORPHA:534
4952	OCRL	HP:0000716	Depression	HP:0040281	ORPHA:534
4952	OCRL	HP:0000718	Aggressive behavior	-	OMIM:309000
4952	OCRL	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:534
4952	OCRL	HP:0000704	Periodontitis	HP:0040283	ORPHA:534
4952	OCRL	HP:0011463	Childhood onset	-	OMIM:300555
4952	OCRL	HP:0011432	Elevated maternal circulating alpha-fetoprotein concentration	-	OMIM:309000
4952	OCRL	HP:0000790	Hematuria	HP:0040283	ORPHA:534
4952	OCRL	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:534
4952	OCRL	HP:0003109	Hyperphosphaturia	-	OMIM:309000
4952	OCRL	HP:0003126	Low-molecular-weight proteinuria	5/5	OMIM:300555
4952	OCRL	HP:0003126	Low-molecular-weight proteinuria	-	OMIM:309000
4952	OCRL	HP:0003124	Hypercholesterolemia	-	OMIM:309000
4952	OCRL	HP:0003124	Hypercholesterolemia	HP:0040283	ORPHA:534
4952	OCRL	HP:0000926	Platyspondyly	-	OMIM:309000
4952	OCRL	HP:0000926	Platyspondyly	HP:0040283	ORPHA:534
4952	OCRL	HP:0003148	Elevated serum acid phosphatase	-	OMIM:309000
4952	OCRL	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:534
4952	OCRL	HP:0011527	Lentiglobus	HP:0040283	ORPHA:534
4952	OCRL	HP:0000859	Increased circulating aldosterone concentration	HP:0040283	ORPHA:534
4952	OCRL	HP:0000843	Hyperparathyroidism	HP:0040282	ORPHA:534
4952	OCRL	HP:0000823	Delayed puberty	HP:0040283	ORPHA:534
4952	OCRL	HP:0003236	Elevated circulating creatine kinase concentration	2/5	OMIM:300555
4952	OCRL	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:309000
4952	OCRL	HP:0000987	Atypical scarring of skin	HP:0040283	ORPHA:534
4952	OCRL	HP:0000944	Abnormal metaphysis morphology	HP:0040283	ORPHA:534
4952	OCRL	HP:0008069	Neoplasm of the skin	HP:0040282	ORPHA:534
4952	OCRL	HP:0000293	Full cheeks	HP:0040282	ORPHA:534
4952	OCRL	HP:0000276	Long face	HP:0040282	ORPHA:534
4952	OCRL	HP:0007731	Chorioretinal dysplasia	HP:0040283	ORPHA:534
4952	OCRL	HP:0002827	Hip dislocation	-	OMIM:309000
4952	OCRL	HP:0002827	Hip dislocation	HP:0040283	ORPHA:534
4952	OCRL	HP:0002808	Kyphosis	HP:0040283	ORPHA:534
4952	OCRL	HP:0002808	Kyphosis	-	OMIM:309000
4952	OCRL	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:534
4952	OCRL	HP:0000230	Gingivitis	HP:0040283	ORPHA:534
4952	OCRL	HP:0000232	Everted lower lip vermilion	HP:0040283	ORPHA:534
4952	OCRL	HP:0002857	Genu valgum	-	OMIM:309000
4952	OCRL	HP:0002857	Genu valgum	HP:0040283	ORPHA:534
4952	OCRL	HP:0001522	Death in infancy	HP:0040283	ORPHA:534
4952	OCRL	HP:0001537	Umbilical hernia	HP:0040283	OMIM:300555
4952	OCRL	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:534
4952	OCRL	HP:0001508	Failure to thrive	HP:0040282	ORPHA:534
4952	OCRL	HP:0001508	Failure to thrive	-	OMIM:309000
4952	OCRL	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:534
4952	OCRL	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:534
4952	OCRL	HP:0002902	Hyponatremia	HP:0040281	ORPHA:534
4952	OCRL	HP:0002900	Hypokalemia	HP:0040282	ORPHA:534
4952	OCRL	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:534
4952	OCRL	HP:0000343	Long philtrum	HP:0040283	ORPHA:534
4952	OCRL	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:534
4952	OCRL	HP:0000347	Micrognathia	HP:0040283	ORPHA:534
4952	OCRL	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:534
4952	OCRL	HP:0007957	Corneal opacity	HP:0040283	ORPHA:534
4952	OCRL	HP:0007948	Dense posterior cortical cataract	-	OMIM:309000
4952	OCRL	HP:0000486	Strabismus	HP:0040283	ORPHA:534
4952	OCRL	HP:0000490	Deeply set eye	HP:0040282	ORPHA:534
4952	OCRL	HP:0000411	Protruding ear	HP:0040282	ORPHA:534
4952	OCRL	HP:0005469	Flat occiput	HP:0040283	ORPHA:534
4952	OCRL	HP:0000518	Cataract	HP:0040281	ORPHA:534
4952	OCRL	HP:0000519	Developmental cataract	-	OMIM:309000
4952	OCRL	HP:0000505	Visual impairment	-	OMIM:309000
4952	OCRL	HP:0000501	Glaucoma	-	OMIM:309000
4952	OCRL	HP:0000501	Glaucoma	HP:0040282	ORPHA:534
4952	OCRL	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:534
4952	OCRL	HP:0000557	Buphthalmos	HP:0040282	ORPHA:534
4952	OCRL	HP:0000559	Corneal scarring	-	OMIM:309000
4952	OCRL	HP:0000568	Microphthalmia	-	OMIM:309000
4952	OCRL	HP:0000568	Microphthalmia	HP:0040283	ORPHA:534
4952	OCRL	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:534
4953	ODC1	HP:0001182	Tapered finger	HP:0040283	ORPHA:544488
4953	ODC1	HP:0002465	Poor speech	HP:0040283	ORPHA:544488
4953	ODC1	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:544488
4953	ODC1	HP:0001290	Generalized hypotonia	3/3	OMIM:619075
4953	ODC1	HP:0001250	Seizure	HP:0040283	ORPHA:544488
4953	ODC1	HP:0001263	Global developmental delay	4/4	OMIM:619075
4953	ODC1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:544488
4953	ODC1	HP:0001257	Spasticity	HP:0040283	ORPHA:544488
4953	ODC1	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:544488
4953	ODC1	HP:0002514	Cerebral calcification	1/4	OMIM:619075
4953	ODC1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:544488
4953	ODC1	HP:0000028	Cryptorchidism	2/3	OMIM:619075
4953	ODC1	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:619075
4953	ODC1	HP:0001344	Absent speech	HP:0040283	ORPHA:544488
4953	ODC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619075
4953	ODC1	HP:0001319	Neonatal hypotonia	1/1	OMIM:619075
4953	ODC1	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:544488
4953	ODC1	HP:0032471	Focal polymicrogyria	1/4	OMIM:619075
4953	ODC1	HP:0002608	Celiac disease	HP:0040283	ORPHA:544488
4953	ODC1	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:544488
4953	ODC1	HP:0410018	Recurrent ear infections	HP:0040283	ORPHA:544488
4953	ODC1	HP:0002003	Large forehead	HP:0040282	ORPHA:544488
4953	ODC1	HP:0002099	Asthma	HP:0040283	ORPHA:544488
4953	ODC1	HP:0002061	Lower limb spasticity	1/1	OMIM:619075
4953	ODC1	HP:0002195	Dysgenesis of the cerebellar vermis	1/4	OMIM:619075
4953	ODC1	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:544488
4953	ODC1	HP:0002223	Absent eyebrow	5/5	OMIM:619075
4953	ODC1	HP:0002223	Absent eyebrow	HP:0040282	ORPHA:544488
4953	ODC1	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:544488
4953	ODC1	HP:0002209	Sparse scalp hair	1/4	OMIM:619075
4953	ODC1	HP:0007018	Attention deficit hyperactivity disorder	2/3	OMIM:619075
4953	ODC1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:544488
4953	ODC1	HP:0007082	Dilated third ventricle	HP:0040283	ORPHA:544488
4953	ODC1	HP:0007074	Thick corpus callosum	HP:0040283	ORPHA:544488
4953	ODC1	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040283	ORPHA:544488
4953	ODC1	HP:0032152	Keratosis pilaris	1/4	OMIM:619075
4953	ODC1	HP:0032152	Keratosis pilaris	HP:0040283	ORPHA:544488
4953	ODC1	HP:0007109	Periventricular cysts	1/1	OMIM:619075
4953	ODC1	HP:0007109	Periventricular cysts	HP:0040283	ORPHA:544488
4953	ODC1	HP:0004209	Clinodactyly of the 5th finger	1/4	OMIM:619075
4953	ODC1	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:544488
4953	ODC1	HP:0001943	Hypoglycemia	1/1	OMIM:619075
4953	ODC1	HP:0000653	Sparse eyelashes	HP:0040282	ORPHA:544488
4953	ODC1	HP:0000653	Sparse eyelashes	4/4	OMIM:619075
4953	ODC1	HP:0011309	Tapered toe	HP:0040283	ORPHA:544488
4953	ODC1	HP:0006989	Dysplastic corpus callosum	HP:0040283	ORPHA:544488
4953	ODC1	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:544488
4953	ODC1	HP:0031936	Delayed ability to walk	3/3	OMIM:619075
4953	ODC1	HP:0000750	Delayed speech and language development	3/3	OMIM:619075
4953	ODC1	HP:0000718	Aggressive behavior	1/3	OMIM:619075
4953	ODC1	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:544488
4953	ODC1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:544488
4953	ODC1	HP:0000902	Rib fusion	HP:0040283	ORPHA:544488
4953	ODC1	HP:0004488	Macrocephaly at birth	1/4	OMIM:619075
4953	ODC1	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040282	ORPHA:544488
4953	ODC1	HP:0045075	Sparse eyebrow	HP:0040283	ORPHA:544488
4953	ODC1	HP:0000958	Dry skin	1/4	OMIM:619075
4953	ODC1	HP:0000960	Sacral dimple	HP:0040283	ORPHA:544488
4953	ODC1	HP:0000278	Retrognathia	HP:0040283	ORPHA:544488
4953	ODC1	HP:0001596	Alopecia	HP:0040283	ORPHA:544488
4953	ODC1	HP:0000256	Macrocephaly	1/1	OMIM:619075
4953	ODC1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:544488
4953	ODC1	HP:0000219	Thin upper lip vermilion	1/4	OMIM:619075
4953	ODC1	HP:0000218	High palate	1/1	OMIM:619075
4953	ODC1	HP:0001561	Polyhydramnios	4/5	OMIM:619075
4953	ODC1	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:544488
4953	ODC1	HP:0032671	Non-convulsive status epilepticus without coma	HP:0040283	ORPHA:544488
4953	ODC1	HP:0001558	Decreased fetal movement	2/5	OMIM:619075
4953	ODC1	HP:0001520	Large for gestational age	1/4	OMIM:619075
4953	ODC1	HP:0001520	Large for gestational age	HP:0040282	ORPHA:544488
4953	ODC1	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:544488
4953	ODC1	HP:0000378	Cupped ear	1/1	OMIM:619075
4953	ODC1	HP:0002904	Hyperbilirubinemia	1/1	OMIM:619075
4953	ODC1	HP:0000337	Broad forehead	HP:0040283	ORPHA:544488
4953	ODC1	HP:0000348	High forehead	4/4	OMIM:619075
4953	ODC1	HP:0000316	Hypertelorism	4/4	OMIM:619075
4953	ODC1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:544488
4953	ODC1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:619075
4953	ODC1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:544488
4953	ODC1	HP:0000400	Macrotia	HP:0040282	ORPHA:544488
4953	ODC1	HP:0000494	Downslanted palpebral fissures	1/4	OMIM:619075
4953	ODC1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:544488
4953	ODC1	HP:0000490	Deeply set eye	2/4	OMIM:619075
4953	ODC1	HP:0000490	Deeply set eye	HP:0040282	ORPHA:544488
4953	ODC1	HP:0001792	Small nail	HP:0040282	ORPHA:544488
4953	ODC1	HP:0001792	Small nail	2/4	OMIM:619075
4953	ODC1	HP:0012450	Chronic constipation	HP:0040283	ORPHA:544488
4953	ODC1	HP:0000414	Bulbous nose	HP:0040282	ORPHA:544488
4953	ODC1	HP:0011276	Vascular skin abnormality	HP:0040283	ORPHA:544488
4953	ODC1	HP:0000508	Ptosis	2/4	OMIM:619075
4953	ODC1	HP:0001800	Hypoplastic toenails	HP:0040283	ORPHA:544488
4953	ODC1	HP:0000581	Blepharophimosis	1/4	OMIM:619075
4953	ODC1	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:544488
4953	ODC1	HP:0000561	Absent eyelashes	HP:0040283	ORPHA:544488
4953	ODC1	HP:0012520	Dilation of Virchow-Robin spaces	3/4	OMIM:619075
4953	ODC1	HP:0012520	Dilation of Virchow-Robin spaces	HP:0040282	ORPHA:544488
4967	OGDH	HP:0003700	Generalized amyotrophy	1/2	OMIM:203740
4967	OGDH	HP:0001276	Hypertonia	HP:0040281	ORPHA:31
4967	OGDH	HP:0001270	Motor delay	1/2	OMIM:203740
4967	OGDH	HP:0001252	Hypotonia	2/2	OMIM:203740
4967	OGDH	HP:0001251	Ataxia	HP:0040281	ORPHA:31
4967	OGDH	HP:0001263	Global developmental delay	HP:0040281	ORPHA:31
4967	OGDH	HP:0002527	Falls	1/2	OMIM:203740
4967	OGDH	HP:0003819	Death in childhood	-	OMIM:203740
4967	OGDH	HP:0001332	Dystonia	2/2	OMIM:203740
4967	OGDH	HP:0000007	Autosomal recessive inheritance	-	OMIM:203740
4967	OGDH	HP:0001310	Dysmetria	1/2	OMIM:203740
4967	OGDH	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:203740
4967	OGDH	HP:0002066	Gait ataxia	1/2	OMIM:203740
4967	OGDH	HP:0002063	Rigidity	1/2	OMIM:203740
4967	OGDH	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:203740
4967	OGDH	HP:0002119	Ventriculomegaly	1/2	OMIM:203740
4967	OGDH	HP:0002194	Delayed gross motor development	1/2	OMIM:203740
4967	OGDH	HP:0003593	Infantile onset	2/2	OMIM:203740
4967	OGDH	HP:0002317	Unsteady gait	1/2	OMIM:203740
4967	OGDH	HP:0004902	Congenital lactic acidosis	-	OMIM:203740
4967	OGDH	HP:0001942	Metabolic acidosis	-	OMIM:203740
4967	OGDH	HP:0004322	Short stature	HP:0040281	ORPHA:31
4967	OGDH	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:31
4967	OGDH	HP:0000750	Delayed speech and language development	1/2	OMIM:203740
4967	OGDH	HP:0000816	Abnormality of Krebs cycle metabolism	HP:0040281	ORPHA:31
4967	OGDH	HP:0010286	Abnormal salivary gland morphology	HP:0040282	ORPHA:31
4967	OGDH	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:31
4967	OGDH	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:31
4967	OGDH	HP:0012401	Abnormal urine alpha-ketoglutarate concentration	HP:0040281	ORPHA:31
4968	OGG1	HP:0003745	Sporadic	-	OMIM:144700
4968	OGG1	HP:0005584	Renal cell carcinoma	-	OMIM:144700
4976	OPA1	HP:0002490	Increased CSF lactate	1/2	OMIM:616896
4976	OPA1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
4976	OPA1	HP:0001133	Constriction of peripheral visual field	HP:0040283	ORPHA:1215
4976	OPA1	HP:0009921	Duane anomaly	HP:0040284	ORPHA:98673
4976	OPA1	HP:0003737	Mitochondrial myopathy	HP:0040282	ORPHA:1215
4976	OPA1	HP:0003701	Proximal muscle weakness	37/104	OMIM:165500
4976	OPA1	HP:0001276	Hypertonia	2/2	OMIM:616896
4976	OPA1	HP:0001272	Cerebellar atrophy	HP:0040284	ORPHA:98673
4976	OPA1	HP:0001272	Cerebellar atrophy	2/5	OMIM:210000
4976	OPA1	HP:0001271	Polyneuropathy	-	OMIM:125250
4976	OPA1	HP:0001270	Motor delay	-	OMIM:210000
4976	OPA1	HP:0001269	Hemiparesis	HP:0040284	ORPHA:98673
4976	OPA1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:98673
4976	OPA1	HP:0001288	Gait disturbance	-	OMIM:210000
4976	OPA1	HP:0001288	Gait disturbance	HP:0040283	OMIM:125250
4976	OPA1	HP:0001284	Areflexia	HP:0040284	ORPHA:98673
4976	OPA1	HP:0001250	Seizure	HP:0040284	ORPHA:98673
4976	OPA1	HP:0001251	Ataxia	6/6	OMIM:210000
4976	OPA1	HP:0001251	Ataxia	HP:0040283	ORPHA:1215
4976	OPA1	HP:0001251	Ataxia	HP:0040283	ORPHA:98673
4976	OPA1	HP:0001251	Ataxia	31/104	OMIM:165500
4976	OPA1	HP:0001251	Ataxia	HP:0040283	OMIM:125250
4976	OPA1	HP:0001249	Intellectual disability	-	OMIM:210000
4976	OPA1	HP:0001260	Dysarthria	1/4	OMIM:210000
4976	OPA1	HP:0001263	Global developmental delay	HP:0040284	ORPHA:98673
4976	OPA1	HP:0001258	Spastic paraplegia	HP:0040284	ORPHA:98673
4976	OPA1	HP:0001258	Spastic paraplegia	HP:0040283	ORPHA:1215
4976	OPA1	HP:0001257	Spasticity	HP:0040284	ORPHA:98673
4976	OPA1	HP:0001257	Spasticity	HP:0040283	OMIM:125250
4976	OPA1	HP:0007371	Corpus callosum atrophy	HP:0040284	ORPHA:98673
4976	OPA1	HP:0007366	Atrophy/Degeneration affecting the brainstem	HP:0040284	ORPHA:98673
4976	OPA1	HP:0002518	Abnormal periventricular white matter morphology	HP:0040284	ORPHA:98673
4976	OPA1	HP:0003829	Typified by incomplete penetrance	-	OMIM:165500
4976	OPA1	HP:0001347	Hyperreflexia	-	OMIM:210000
4976	OPA1	HP:0008872	Feeding difficulties in infancy	2/2	OMIM:616896
4976	OPA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
4976	OPA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616896
4976	OPA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:210000
4976	OPA1	HP:0001337	Tremor	1/4	OMIM:210000
4976	OPA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
4976	OPA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:125250
4976	OPA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:165500
4976	OPA1	HP:0001310	Dysmetria	2/4	OMIM:210000
4976	OPA1	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:1215
4976	OPA1	HP:0000135	Hypogonadism	HP:0040284	ORPHA:98673
4976	OPA1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
4976	OPA1	HP:0007663	Reduced visual acuity	-	OMIM:165500
4976	OPA1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
4976	OPA1	HP:0007663	Reduced visual acuity	-	OMIM:125250
4976	OPA1	HP:0007641	Dyschromatopsia	1/1	OMIM:125250
4976	OPA1	HP:0008936	Axial hypotonia	1/2	OMIM:616896
4976	OPA1	HP:0003348	Hyperalaninemia	1/2	OMIM:616896
4976	OPA1	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:1215
4976	OPA1	HP:0003326	Myalgia	HP:0040284	ORPHA:98673
4976	OPA1	HP:0002015	Dysphagia	HP:0040284	ORPHA:98673
4976	OPA1	HP:0002015	Dysphagia	2/6	OMIM:210000
4976	OPA1	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:98673
4976	OPA1	HP:0003390	Sensory axonal neuropathy	2/4	OMIM:210000
4976	OPA1	HP:0002078	Truncal ataxia	1/4	OMIM:210000
4976	OPA1	HP:0002076	Migraine	HP:0040284	ORPHA:98673
4976	OPA1	HP:0002076	Migraine	HP:0040284	ORPHA:1215
4976	OPA1	HP:0003487	Babinski sign	-	OMIM:210000
4976	OPA1	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:616896
4976	OPA1	HP:0002135	Basal ganglia calcification	HP:0040284	ORPHA:98673
4976	OPA1	HP:0003444	EMG: chronic denervation signs	HP:0040283	ORPHA:1215
4976	OPA1	HP:0003438	Absent Achilles reflex	HP:0040283	ORPHA:1215
4976	OPA1	HP:0002104	Apnea	2/2	OMIM:616896
4976	OPA1	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:616896
4976	OPA1	HP:0002191	Progressive spasticity	-	OMIM:210000
4976	OPA1	HP:0002179	Opisthotonus	2/2	OMIM:616896
4976	OPA1	HP:0003593	Infantile onset	1/6	OMIM:210000
4976	OPA1	HP:0003577	Congenital onset	2/2	OMIM:616896
4976	OPA1	HP:0003587	Insidious onset	-	OMIM:165500
4976	OPA1	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:125250
4976	OPA1	HP:0008347	Decreased activity of mitochondrial complex IV	2/2	OMIM:616896
4976	OPA1	HP:0007002	Motor axonal neuropathy	HP:0040283	ORPHA:1215
4976	OPA1	HP:0011968	Feeding difficulties	HP:0040284	ORPHA:98673
4976	OPA1	HP:0003691	Scapular winging	HP:0040284	ORPHA:98673
4976	OPA1	HP:0002359	Frequent falls	1/4	OMIM:210000
4976	OPA1	HP:0003676	Progressive	-	OMIM:210000
4976	OPA1	HP:0003676	Progressive	-	OMIM:125250
4976	OPA1	HP:0002317	Unsteady gait	1/4	OMIM:210000
4976	OPA1	HP:0009830	Peripheral neuropathy	4/4	OMIM:210000
4976	OPA1	HP:0009830	Peripheral neuropathy	-	OMIM:125250
4976	OPA1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:1215
4976	OPA1	HP:0020119	Abnormal retinal nerve fiber layer morphology	HP:0040282	ORPHA:1215
4976	OPA1	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:98673
4976	OPA1	HP:0007141	Sensorimotor neuropathy	1/4	OMIM:210000
4976	OPA1	HP:0003621	Juvenile onset	8/19	OMIM:180100
4976	OPA1	HP:0030515	Moderately reduced visual acuity	HP:0040282	ORPHA:98673
4976	OPA1	HP:0006855	Cerebellar vermis atrophy	2/4	OMIM:210000
4976	OPA1	HP:0000639	Nystagmus	-	OMIM:210000
4976	OPA1	HP:0000639	Nystagmus	HP:0040284	ORPHA:98673
4976	OPA1	HP:0000650	Abnormal amplitude of pattern reversal visual evoked potentials	-	OMIM:125250
4976	OPA1	HP:0000650	Abnormal amplitude of pattern reversal visual evoked potentials	-	OMIM:165500
4976	OPA1	HP:0000649	Abnormality of visual evoked potentials	HP:0040282	ORPHA:1215
4976	OPA1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:98673
4976	OPA1	HP:0000648	Optic atrophy	-	OMIM:165500
4976	OPA1	HP:0000648	Optic atrophy	6/6	OMIM:210000
4976	OPA1	HP:0000648	Optic atrophy	1/1	OMIM:125250
4976	OPA1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:1215
4976	OPA1	HP:0000648	Optic atrophy	2/2	OMIM:616896
4976	OPA1	HP:0000642	Red-green dyschromatopsia	-	OMIM:125250
4976	OPA1	HP:0000642	Red-green dyschromatopsia	-	OMIM:165500
4976	OPA1	HP:0001972	Macrocytic anemia	HP:0040284	ORPHA:98673
4976	OPA1	HP:0000618	Blindness	1/4	OMIM:210000
4976	OPA1	HP:0000602	Ophthalmoplegia	-	OMIM:125250
4976	OPA1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:98673
4976	OPA1	HP:0000603	Central scotoma	-	OMIM:165500
4976	OPA1	HP:0000603	Central scotoma	1/1	OMIM:125250
4976	OPA1	HP:0000603	Central scotoma	HP:0040283	ORPHA:98673
4976	OPA1	HP:0000662	Nyctalopia	26/28	OMIM:180100
4976	OPA1	HP:0000666	Horizontal nystagmus	-	OMIM:125250
4976	OPA1	HP:0000666	Horizontal nystagmus	5%	OMIM:165500
4976	OPA1	HP:0006970	Periventricular leukomalacia	1/5	OMIM:210000
4976	OPA1	HP:0006958	Abnormal auditory evoked potentials	-	OMIM:125250
4976	OPA1	HP:0003089	Hamstring contractures	-	OMIM:210000
4976	OPA1	HP:0011410	Caesarean section	1/2	OMIM:616896
4976	OPA1	HP:0012736	Profound global developmental delay	2/2	OMIM:616896
4976	OPA1	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:1215
4976	OPA1	HP:0000738	Hallucinations	HP:0040284	ORPHA:98673
4976	OPA1	HP:0000726	Dementia	HP:0040284	ORPHA:98673
4976	OPA1	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	2/2	OMIM:616896
4976	OPA1	HP:0011463	Childhood onset	3/19	OMIM:180100
4976	OPA1	HP:0011463	Childhood onset	5/6	OMIM:210000
4976	OPA1	HP:0011463	Childhood onset	1/1	OMIM:125250
4976	OPA1	HP:0011462	Young adult onset	8/19	OMIM:180100
4976	OPA1	HP:0003198	Myopathy	-	OMIM:125250
4976	OPA1	HP:0003198	Myopathy	HP:0040283	ORPHA:98673
4976	OPA1	HP:0003198	Myopathy	HP:0040282	ORPHA:1215
4976	OPA1	HP:0004463	Absent brainstem auditory responses	HP:0040282	ORPHA:1215
4976	OPA1	HP:0000819	Diabetes mellitus	HP:0040284	ORPHA:98673
4976	OPA1	HP:0000819	Diabetes mellitus	HP:0040284	ORPHA:1215
4976	OPA1	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:98673
4976	OPA1	HP:0003202	Skeletal muscle atrophy	HP:0040284	ORPHA:98673
4976	OPA1	HP:0003202	Skeletal muscle atrophy	1/2	OMIM:616896
4976	OPA1	HP:0034311	Hypoplastic optic chiasm	1/4	OMIM:210000
4976	OPA1	HP:0000980	Pallor	-	OMIM:165500
4976	OPA1	HP:0100285	EMG: impaired neuromuscular transmission	HP:0040282	ORPHA:1215
4976	OPA1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
4976	OPA1	HP:0006366	Adductor longus contractures	-	OMIM:210000
4976	OPA1	HP:0025514	Morning glory anomaly	HP:0040282	ORPHA:98673
4976	OPA1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
4976	OPA1	HP:0012378	Fatigue	HP:0040284	ORPHA:98673
4976	OPA1	HP:0012378	Fatigue	HP:0040282	ORPHA:1215
4976	OPA1	HP:0001612	Weak cry	1/2	OMIM:616896
4976	OPA1	HP:0001623	Breech presentation	1/2	OMIM:616896
4976	OPA1	HP:0001639	Hypertrophic cardiomyopathy	2/2	OMIM:616896
4976	OPA1	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:1215
4976	OPA1	HP:0030319	Weakness of facial musculature	HP:0040284	ORPHA:98673
4976	OPA1	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:125250
4976	OPA1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:1215
4976	OPA1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:98673
4976	OPA1	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:616896
4976	OPA1	HP:0000486	Strabismus	10%	OMIM:165500
4976	OPA1	HP:0000486	Strabismus	-	OMIM:125250
4976	OPA1	HP:0012450	Chronic constipation	3/6	OMIM:210000
4976	OPA1	HP:0001771	Achilles tendon contracture	-	OMIM:210000
4976	OPA1	HP:0001761	Pes cavus	HP:0040284	ORPHA:98673
4976	OPA1	HP:0001761	Pes cavus	HP:0040283	ORPHA:1215
4976	OPA1	HP:0000518	Cataract	HP:0040284	ORPHA:98673
4976	OPA1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
4976	OPA1	HP:0000529	Progressive visual loss	-	OMIM:210000
4976	OPA1	HP:0000529	Progressive visual loss	HP:0040281	ORPHA:1215
4976	OPA1	HP:0000508	Ptosis	HP:0040283	ORPHA:98673
4976	OPA1	HP:0000508	Ptosis	-	OMIM:125250
4976	OPA1	HP:0000505	Visual impairment	HP:0040281	ORPHA:98673
4976	OPA1	HP:0000505	Visual impairment	-	OMIM:165500
4976	OPA1	HP:0000505	Visual impairment	2/4	OMIM:210000
4976	OPA1	HP:0000505	Visual impairment	1/1	OMIM:125250
4976	OPA1	HP:0000576	Centrocecal scotoma	-	OMIM:125250
4976	OPA1	HP:0000576	Centrocecal scotoma	-	OMIM:165500
4976	OPA1	HP:0000575	Scotoma	5/18	OMIM:180100
4976	OPA1	HP:0000590	Progressive external ophthalmoplegia	48/104	OMIM:165500
4976	OPA1	HP:0000590	Progressive external ophthalmoplegia	HP:0040282	ORPHA:1215
4976	OPA1	HP:0000552	Tritanomaly	-	OMIM:125250
4976	OPA1	HP:0000552	Tritanomaly	-	OMIM:165500
4976	OPA1	HP:0000551	Color vision defect	HP:0040282	ORPHA:98673
4976	OPA1	HP:0012511	Temporal optic disc pallor	HP:0040282	ORPHA:98673
4976	OPA1	HP:0012511	Temporal optic disc pallor	HP:0040283	ORPHA:1215
4976	OPA1	HP:0000546	Retinal degeneration	1/2	OMIM:616896
4976	OPA1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
4976	OPA1	HP:0000545	Myopia	-	OMIM:180100
4978	OPCML	HP:0000006	Autosomal dominant inheritance	-	OMIM:167000
4978	OPCML	HP:0001442	Typified by somatic mosaicism	-	OMIM:167000
4978	OPCML	HP:0100621	Dysgerminoma	-	OMIM:167000
4978	OPCML	HP:0003002	Breast carcinoma	-	OMIM:167000
4978	OPCML	HP:0006774	Ovarian papillary adenocarcinoma	-	OMIM:167000
4982	TNFRSF11B	HP:0001102	Angioid streaks of the fundus	-	OMIM:239000
4982	TNFRSF11B	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4982	TNFRSF11B	HP:0001293	Cranial nerve compression	-	OMIM:131300
4982	TNFRSF11B	HP:0001270	Motor delay	HP:0040283	OMIM:239000
4982	TNFRSF11B	HP:0001250	Seizure	HP:0040284	ORPHA:1416
4982	TNFRSF11B	HP:0001252	Hypotonia	1/1	OMIM:239000
4982	TNFRSF11B	HP:0001252	Hypotonia	2/7	OMIM:615777
4982	TNFRSF11B	HP:0001249	Intellectual disability	5/7	OMIM:615777
4982	TNFRSF11B	HP:0001263	Global developmental delay	-	OMIM:615777
4982	TNFRSF11B	HP:0002515	Waddling gait	54/102	OMIM:131300
4982	TNFRSF11B	HP:0003828	Variable expressivity	-	OMIM:239000
4982	TNFRSF11B	HP:0031013	Ankylosis	-	OMIM:239000
4982	TNFRSF11B	HP:0031013	Ankylosis	HP:0040283	ORPHA:1416
4982	TNFRSF11B	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:1416
4982	TNFRSF11B	HP:0001373	Joint dislocation	HP:0040283	ORPHA:1416
4982	TNFRSF11B	HP:0001369	Arthritis	HP:0040281	ORPHA:1416
4982	TNFRSF11B	HP:0001386	Joint swelling	HP:0040281	ORPHA:1416
4982	TNFRSF11B	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1416
4982	TNFRSF11B	HP:0001382	Joint hypermobility	-	OMIM:615777
4982	TNFRSF11B	HP:0002684	Thickened calvaria	-	OMIM:239000
4982	TNFRSF11B	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4982	TNFRSF11B	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4982	TNFRSF11B	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4982	TNFRSF11B	HP:0001324	Muscle weakness	40/96	OMIM:131300
4982	TNFRSF11B	HP:0001324	Muscle weakness	-	OMIM:239000
4982	TNFRSF11B	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4982	TNFRSF11B	HP:0000007	Autosomal recessive inheritance	-	OMIM:239000
4982	TNFRSF11B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4982	TNFRSF11B	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4982	TNFRSF11B	HP:0002650	Scoliosis	12/14	OMIM:131300
4982	TNFRSF11B	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4982	TNFRSF11B	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4982	TNFRSF11B	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4982	TNFRSF11B	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4982	TNFRSF11B	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:2801
4982	TNFRSF11B	HP:0000175	Cleft palate	2/7	OMIM:615777
4982	TNFRSF11B	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:2801
4982	TNFRSF11B	HP:0002757	Recurrent fractures	-	OMIM:239000
4982	TNFRSF11B	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:2801
4982	TNFRSF11B	HP:0002758	Osteoarthritis	HP:0040282	ORPHA:1416
4982	TNFRSF11B	HP:0003388	Easy fatigability	36/76	OMIM:131300
4982	TNFRSF11B	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4982	TNFRSF11B	HP:0100593	Calcification of cartilage	HP:0040281	ORPHA:1416
4982	TNFRSF11B	HP:0002150	Hypercalciuria	1/1	OMIM:239000
4982	TNFRSF11B	HP:0002149	Hyperuricemia	HP:0040281	ORPHA:2801
4982	TNFRSF11B	HP:0002149	Hyperuricemia	-	OMIM:239000
4982	TNFRSF11B	HP:0002194	Delayed gross motor development	1/1	OMIM:239000
4982	TNFRSF11B	HP:0003593	Infantile onset	1/1	OMIM:239000
4982	TNFRSF11B	HP:0100769	Synovitis	HP:0040283	ORPHA:1416
4982	TNFRSF11B	HP:0033355	Increased urine deoxypyridinoline level	1/1	OMIM:239000
4982	TNFRSF11B	HP:0003510	Severe short stature	7/7	OMIM:615777
4982	TNFRSF11B	HP:0003676	Progressive	-	OMIM:239000
4982	TNFRSF11B	HP:0002315	Headache	-	OMIM:131300
4982	TNFRSF11B	HP:0004976	Knee dislocation	6/7	OMIM:615777
4982	TNFRSF11B	HP:0100670	Coarse metaphyseal trabecularization	HP:0040281	ORPHA:2801
4982	TNFRSF11B	HP:0009803	Short phalanx of finger	-	OMIM:615777
4982	TNFRSF11B	HP:0200056	Macular scar	HP:0040283	OMIM:239000
4982	TNFRSF11B	HP:0009763	Limb pain	63/92	OMIM:131300
4982	TNFRSF11B	HP:0003621	Juvenile onset	-	OMIM:131300
4982	TNFRSF11B	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4982	TNFRSF11B	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4982	TNFRSF11B	HP:6001056	Out-toeing	-	OMIM:131300
4982	TNFRSF11B	HP:0000651	Diplopia	-	OMIM:131300
4982	TNFRSF11B	HP:0000648	Optic atrophy	HP:0040282	ORPHA:2801
4982	TNFRSF11B	HP:0001945	Fever	HP:0040283	ORPHA:1416
4982	TNFRSF11B	HP:0001956	Truncal obesity	2/7	OMIM:615777
4982	TNFRSF11B	HP:0001903	Anemia	HP:0040283	OMIM:131300
4982	TNFRSF11B	HP:0010049	Short metacarpal	-	OMIM:615777
4982	TNFRSF11B	HP:0000678	Dental crowding	-	OMIM:615777
4982	TNFRSF11B	HP:0012649	Increased inflammatory response	HP:0040283	ORPHA:1416
4982	TNFRSF11B	HP:0000670	Carious teeth	-	OMIM:131300
4982	TNFRSF11B	HP:0011304	Broad thumb	2/7	OMIM:615777
4982	TNFRSF11B	HP:0000668	Hypodontia	-	OMIM:615777
4982	TNFRSF11B	HP:0000664	Synophrys	-	OMIM:615777
4982	TNFRSF11B	HP:0004322	Short stature	1/1	OMIM:239000
4982	TNFRSF11B	HP:0004322	Short stature	HP:0040281	ORPHA:2801
4982	TNFRSF11B	HP:0003080	Hydroxyprolinuria	-	OMIM:239000
4982	TNFRSF11B	HP:0004396	Poor appetite	-	OMIM:131300
4982	TNFRSF11B	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4982	TNFRSF11B	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4982	TNFRSF11B	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4982	TNFRSF11B	HP:0003026	Short long bone	7/7	OMIM:615777
4982	TNFRSF11B	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4982	TNFRSF11B	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:1416
4982	TNFRSF11B	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4982	TNFRSF11B	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:2801
4982	TNFRSF11B	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4982	TNFRSF11B	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4982	TNFRSF11B	HP:0000750	Delayed speech and language development	-	OMIM:615777
4982	TNFRSF11B	HP:0011461	Fetal onset	7/7	OMIM:615777
4982	TNFRSF11B	HP:0000774	Narrow chest	2/7	OMIM:615777
4982	TNFRSF11B	HP:0004437	Cranial hyperostosis	HP:0040281	ORPHA:2801
4982	TNFRSF11B	HP:0000926	Platyspondyly	1/7	OMIM:615777
4982	TNFRSF11B	HP:0003180	Flat acetabular roof	-	OMIM:615777
4982	TNFRSF11B	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:239000
4982	TNFRSF11B	HP:0004482	Relative macrocephaly	-	OMIM:615777
4982	TNFRSF11B	HP:0004482	Relative macrocephaly	1/1	OMIM:239000
4982	TNFRSF11B	HP:0005792	Short humerus	1/1	OMIM:239000
4982	TNFRSF11B	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4982	TNFRSF11B	HP:0003148	Elevated serum acid phosphatase	-	OMIM:239000
4982	TNFRSF11B	HP:0000889	Abnormal clavicle morphology	HP:0040281	ORPHA:2801
4982	TNFRSF11B	HP:0000822	Hypertension	HP:0040282	ORPHA:2801
4982	TNFRSF11B	HP:0000823	Delayed puberty	-	OMIM:131300
4982	TNFRSF11B	HP:0000894	Short clavicles	-	OMIM:615777
4982	TNFRSF11B	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4982	TNFRSF11B	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:1416
4982	TNFRSF11B	HP:0003260	Hydroxyprolinemia	-	OMIM:239000
4982	TNFRSF11B	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:2801
4982	TNFRSF11B	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4982	TNFRSF11B	HP:0000939	Osteoporosis	HP:0040281	ORPHA:2801
4982	TNFRSF11B	HP:0000939	Osteoporosis	-	OMIM:239000
4982	TNFRSF11B	HP:0000938	Osteopenia	1/1	OMIM:239000
4982	TNFRSF11B	HP:0000934	Chondrocalcinosis	HP:0040283	ORPHA:1416
4982	TNFRSF11B	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:2801
4982	TNFRSF11B	HP:0000286	Epicanthus	1/7	OMIM:615777
4982	TNFRSF11B	HP:0000280	Coarse facial features	2/7	OMIM:615777
4982	TNFRSF11B	HP:0000256	Macrocephaly	HP:0040281	ORPHA:2801
4982	TNFRSF11B	HP:0000256	Macrocephaly	-	OMIM:239000
4982	TNFRSF11B	HP:0005108	Abnormal intervertebral disk morphology	HP:0040281	ORPHA:1416
4982	TNFRSF11B	HP:0005090	Lateral femoral bowing	1/1	OMIM:239000
4982	TNFRSF11B	HP:0002829	Arthralgia	HP:0040281	ORPHA:1416
4982	TNFRSF11B	HP:0002827	Hip dislocation	3/7	OMIM:615777
4982	TNFRSF11B	HP:0002808	Kyphosis	-	OMIM:239000
4982	TNFRSF11B	HP:0000252	Microcephaly	-	OMIM:615777
4982	TNFRSF11B	HP:0001552	Barrel-shaped chest	-	OMIM:239000
4982	TNFRSF11B	HP:0002857	Genu valgum	-	OMIM:131300
4982	TNFRSF11B	HP:0001533	Slender build	-	OMIM:131300
4982	TNFRSF11B	HP:0001508	Failure to thrive	1/1	OMIM:239000
4982	TNFRSF11B	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4982	TNFRSF11B	HP:0007807	Optic nerve compression	-	OMIM:131300
4982	TNFRSF11B	HP:0012368	Flat face	7/7	OMIM:615777
4982	TNFRSF11B	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4982	TNFRSF11B	HP:0002905	Hyperphosphatemia	-	OMIM:239000
4982	TNFRSF11B	HP:0006480	Premature loss of teeth	-	OMIM:239000
4982	TNFRSF11B	HP:0006487	Bowing of the long bones	-	OMIM:239000
4982	TNFRSF11B	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:2801
4982	TNFRSF11B	HP:0000365	Hearing impairment	1/1	OMIM:239000
4982	TNFRSF11B	HP:0000365	Hearing impairment	HP:0040282	ORPHA:2801
4982	TNFRSF11B	HP:0000365	Hearing impairment	10/67	OMIM:131300
4982	TNFRSF11B	HP:0000343	Long philtrum	1/7	OMIM:615777
4982	TNFRSF11B	HP:0011001	Increased bone mineral density	-	OMIM:131300
4982	TNFRSF11B	HP:0011001	Increased bone mineral density	-	OMIM:239000
4982	TNFRSF11B	HP:0000311	Round face	2/7	OMIM:615777
4982	TNFRSF11B	HP:0002970	Genu varum	-	OMIM:615777
4982	TNFRSF11B	HP:0000303	Mandibular prognathia	-	OMIM:131300
4982	TNFRSF11B	HP:0000407	Sensorineural hearing impairment	-	OMIM:239000
4982	TNFRSF11B	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4982	TNFRSF11B	HP:0000488	Retinopathy	HP:0040283	OMIM:239000
4982	TNFRSF11B	HP:0000470	Short neck	1/7	OMIM:615777
4982	TNFRSF11B	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4982	TNFRSF11B	HP:0001763	Pes planus	1/7	OMIM:615777
4982	TNFRSF11B	HP:0001840	Metatarsus adductus	-	OMIM:615777
4982	TNFRSF11B	HP:0000520	Proptosis	2/4	OMIM:131300
4982	TNFRSF11B	HP:0000520	Proptosis	7/7	OMIM:615777
4982	TNFRSF11B	HP:0000592	Blue sclerae	2/7	OMIM:615777
4982	TNFRSF11B	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4982	TNFRSF11B	HP:0012514	Lower limb pain	4/4	OMIM:131300
4982	TNFRSF11B	HP:0000546	Retinal degeneration	HP:0040283	OMIM:239000
4983	OPHN1	HP:0002465	Poor speech	HP:0040282	ORPHA:137831
4983	OPHN1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:137831
4983	OPHN1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:137831
4983	OPHN1	HP:0001290	Generalized hypotonia	3/5	OMIM:300486
4983	OPHN1	HP:0001250	Seizure	-	OMIM:300486
4983	OPHN1	HP:0001252	Hypotonia	HP:0040282	ORPHA:137831
4983	OPHN1	HP:0001251	Ataxia	HP:0040282	ORPHA:137831
4983	OPHN1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:137831
4983	OPHN1	HP:0001249	Intellectual disability	9/9	OMIM:300486
4983	OPHN1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:137831
4983	OPHN1	HP:0001263	Global developmental delay	15/15	OMIM:300486
4983	OPHN1	HP:0001257	Spasticity	-	OMIM:300486
4983	OPHN1	HP:0000046	Small scrotum	-	OMIM:300486
4983	OPHN1	HP:0025336	Delayed ability to sit	2/5	OMIM:300486
4983	OPHN1	HP:0000054	Micropenis	-	OMIM:300486
4983	OPHN1	HP:0000028	Cryptorchidism	-	OMIM:300486
4983	OPHN1	HP:0001344	Absent speech	1/5	OMIM:300486
4983	OPHN1	HP:0001320	Cerebellar vermis hypoplasia	4/5	OMIM:300486
4983	OPHN1	HP:0001321	Cerebellar hypoplasia	1/5	OMIM:300486
4983	OPHN1	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:137831
4983	OPHN1	HP:0001419	X-linked recessive inheritance	-	OMIM:300486
4983	OPHN1	HP:0002007	Frontal bossing	-	OMIM:300486
4983	OPHN1	HP:0002080	Intention tremor	HP:0040283	ORPHA:137831
4983	OPHN1	HP:0002066	Gait ataxia	-	OMIM:300486
4983	OPHN1	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:137831
4983	OPHN1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:137831
4983	OPHN1	HP:0002119	Ventriculomegaly	4/5	OMIM:300486
4983	OPHN1	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:137831
4983	OPHN1	HP:0002172	Postural instability	HP:0040283	ORPHA:137831
4983	OPHN1	HP:0003593	Infantile onset	-	OMIM:300486
4983	OPHN1	HP:0002280	Enlarged cisterna magna	HP:0040283	ORPHA:137831
4983	OPHN1	HP:0002280	Enlarged cisterna magna	2/5	OMIM:300486
4983	OPHN1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:137831
4983	OPHN1	HP:0007065	Disorganization of the anterior cerebellar vermis	1/5	OMIM:300486
4983	OPHN1	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:137831
4983	OPHN1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:137831
4983	OPHN1	HP:0002340	Caudate atrophy	HP:0040283	ORPHA:137831
4983	OPHN1	HP:0007112	Temporal cortical atrophy	HP:0040283	ORPHA:137831
4983	OPHN1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040283	ORPHA:137831
4983	OPHN1	HP:0000639	Nystagmus	-	OMIM:300486
4983	OPHN1	HP:0000601	Hypotelorism	-	OMIM:300486
4983	OPHN1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:137831
4983	OPHN1	HP:0006951	Retrocerebellar cyst	1/5	OMIM:300486
4983	OPHN1	HP:0006951	Retrocerebellar cyst	HP:0040283	ORPHA:137831
4983	OPHN1	HP:0006913	Frontal cortical atrophy	HP:0040283	ORPHA:137831
4983	OPHN1	HP:0031936	Delayed ability to walk	1/5	OMIM:300486
4983	OPHN1	HP:0400000	Tall chin	HP:0040282	ORPHA:137831
4983	OPHN1	HP:0000752	Hyperactivity	-	OMIM:300486
4983	OPHN1	HP:0000733	Motor stereotypy	1/5	OMIM:300486
4983	OPHN1	HP:0000744	Low frustration tolerance	1/5	OMIM:300486
4983	OPHN1	HP:0000742	Self-mutilation	1/5	OMIM:300486
4983	OPHN1	HP:0000729	Autistic behavior	HP:0040282	ORPHA:137831
4983	OPHN1	HP:0012760	Reduced social responsiveness	HP:0040282	ORPHA:137831
4983	OPHN1	HP:0003189	Long nose	-	OMIM:300486
4983	OPHN1	HP:0000817	Reduced eye contact	HP:0040282	ORPHA:137831
4983	OPHN1	HP:0000256	Macrocephaly	3/5	OMIM:300486
4983	OPHN1	HP:0000276	Long face	-	OMIM:300486
4983	OPHN1	HP:0000219	Thin upper lip vermilion	20/20	OMIM:300486
4983	OPHN1	HP:0000336	Prominent supraorbital ridges	-	OMIM:300486
4983	OPHN1	HP:0000322	Short philtrum	-	OMIM:300486
4983	OPHN1	HP:0002951	Partial absence of cerebellar vermis	HP:0040282	ORPHA:137831
4983	OPHN1	HP:0000303	Mandibular prognathia	2/5	OMIM:300486
4983	OPHN1	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:137831
4983	OPHN1	HP:0000400	Macrotia	-	OMIM:300486
4983	OPHN1	HP:0000486	Strabismus	HP:0040282	ORPHA:137831
4983	OPHN1	HP:0000486	Strabismus	-	OMIM:300486
4983	OPHN1	HP:0000490	Deeply set eye	2/5	OMIM:300486
4983	OPHN1	HP:0000490	Deeply set eye	HP:0040282	ORPHA:137831
4983	OPHN1	HP:0030260	Microphallus	-	OMIM:300486
4983	OPHN1	HP:0000448	Prominent nose	1/5	OMIM:300486
4983	OPHN1	HP:0000448	Prominent nose	HP:0040283	ORPHA:137831
4983	OPHN1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:137831
4983	OPHN1	HP:0011220	Prominent forehead	-	OMIM:300486
4990	SIX6	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
4990	SIX6	HP:0002444	Hypothalamic hamartoma	-	OMIM:206900
4990	SIX6	HP:0008619	Bilateral sensorineural hearing impairment	1/1	OMIM:206900
4990	SIX6	HP:0001290	Generalized hypotonia	-	OMIM:206900
4990	SIX6	HP:0001274	Agenesis of corpus callosum	-	OMIM:206900
4990	SIX6	HP:0001252	Hypotonia	-	OMIM:206900
4990	SIX6	HP:0001264	Spastic diplegia	-	OMIM:206900
4990	SIX6	HP:0001263	Global developmental delay	1/1	OMIM:206900
4990	SIX6	HP:0007401	Macular atrophy	-	OMIM:212550
4990	SIX6	HP:0002510	Spastic tetraplegia	-	OMIM:206900
4990	SIX6	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:206900
4990	SIX6	HP:0000054	Micropenis	-	OMIM:206900
4990	SIX6	HP:0000047	Hypospadias	-	OMIM:206900
4990	SIX6	HP:0000028	Cryptorchidism	-	OMIM:206900
4990	SIX6	HP:0008897	Postnatal growth retardation	-	OMIM:206900
4990	SIX6	HP:0001328	Specific learning disability	-	OMIM:206900
4990	SIX6	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
4990	SIX6	HP:0000007	Autosomal recessive inheritance	-	OMIM:212550
4990	SIX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:206900
4990	SIX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
4990	SIX6	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
4990	SIX6	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
4990	SIX6	HP:0002032	Esophageal atresia	-	OMIM:206900
4990	SIX6	HP:0002007	Frontal bossing	-	OMIM:206900
4990	SIX6	HP:0003316	Butterfly vertebrae	-	OMIM:206900
4990	SIX6	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:206900
4990	SIX6	HP:0003577	Congenital onset	9/9	OMIM:206900
4990	SIX6	HP:0003577	Congenital onset	2/2	OMIM:212550
4990	SIX6	HP:0008417	Vertebral hypoplasia	-	OMIM:206900
4990	SIX6	HP:0010627	Anterior pituitary hypoplasia	-	OMIM:206900
4990	SIX6	HP:0008499	High hypermetropia	HP:0040281	ORPHA:35612
4990	SIX6	HP:0003621	Juvenile onset	8/19	OMIM:180100
4990	SIX6	HP:0000639	Nystagmus	-	OMIM:212550
4990	SIX6	HP:0000647	Sclerocornea	2/9	OMIM:206900
4990	SIX6	HP:0000616	Miosis	-	OMIM:212550
4990	SIX6	HP:0000612	Iris coloboma	HP:0040283	OMIM:212550
4990	SIX6	HP:0000610	Abnormal choroid morphology	HP:0040281	ORPHA:35612
4990	SIX6	HP:0000609	Optic nerve hypoplasia	-	OMIM:206900
4990	SIX6	HP:0000662	Nyctalopia	26/28	OMIM:180100
4990	SIX6	HP:0000666	Horizontal nystagmus	-	OMIM:212550
4990	SIX6	HP:0004322	Short stature	1/9	OMIM:206900
4990	SIX6	HP:0011463	Childhood onset	3/19	OMIM:180100
4990	SIX6	HP:0011462	Young adult onset	8/19	OMIM:180100
4990	SIX6	HP:0000921	Missing ribs	-	OMIM:206900
4990	SIX6	HP:0000902	Rib fusion	-	OMIM:206900
4990	SIX6	HP:0005815	Supernumerary ribs	-	OMIM:206900
4990	SIX6	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:35612
4990	SIX6	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
4990	SIX6	HP:0000252	Microcephaly	-	OMIM:206900
4990	SIX6	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
4990	SIX6	HP:0002937	Hemivertebrae	-	OMIM:206900
4990	SIX6	HP:0002948	Vertebral fusion	-	OMIM:206900
4990	SIX6	HP:0001643	Patent ductus arteriosus	-	OMIM:206900
4990	SIX6	HP:0001629	Ventricular septal defect	-	OMIM:206900
4990	SIX6	HP:0000407	Sensorineural hearing impairment	-	OMIM:206900
4990	SIX6	HP:0000486	Strabismus	HP:0040281	ORPHA:35612
4990	SIX6	HP:0000518	Cataract	1/9	OMIM:206900
4990	SIX6	HP:0000518	Cataract	-	OMIM:212550
4990	SIX6	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
4990	SIX6	HP:0000528	Anophthalmia	9/10	OMIM:206900
4990	SIX6	HP:0000501	Glaucoma	HP:0040281	ORPHA:35612
4990	SIX6	HP:0000501	Glaucoma	1/2	OMIM:212550
4990	SIX6	HP:0000575	Scotoma	5/18	OMIM:180100
4990	SIX6	HP:0000589	Coloboma	1/9	OMIM:206900
4990	SIX6	HP:0000557	Buphthalmos	1/2	OMIM:212550
4990	SIX6	HP:0000559	Corneal scarring	1/2	OMIM:212550
4990	SIX6	HP:0000556	Retinal dystrophy	-	OMIM:212550
4990	SIX6	HP:0000568	Microphthalmia	HP:0040281	ORPHA:35612
4990	SIX6	HP:0000568	Microphthalmia	2/2	OMIM:212550
4990	SIX6	HP:0000568	Microphthalmia	3/9	OMIM:206900
4990	SIX6	HP:0000567	Chorioretinal coloboma	HP:0040283	OMIM:212550
4990	SIX6	HP:0000541	Retinal detachment	1/2	OMIM:212550
4990	SIX6	HP:0012521	Optic nerve aplasia	1/1	OMIM:206900
4990	SIX6	HP:0000543	Optic disc pallor	1/1	OMIM:180100
4990	SIX6	HP:0000545	Myopia	-	OMIM:180100
4998	ORC1	HP:0009939	Mandibular aplasia	HP:0040281	ORPHA:2554
4998	ORC1	HP:0010886	Osteochondritis dissecans	-	OMIM:224690
4998	ORC1	HP:0009892	Anotia	HP:0040281	ORPHA:2554
4998	ORC1	HP:0008551	Microtia	4/4	OMIM:224690
4998	ORC1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
4998	ORC1	HP:0001293	Cranial nerve compression	-	OMIM:131300
4998	ORC1	HP:0001256	Intellectual disability, mild	1/2	OMIM:224690
4998	ORC1	HP:0001252	Hypotonia	2/7	OMIM:615777
4998	ORC1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2554
4998	ORC1	HP:0001249	Intellectual disability	5/7	OMIM:615777
4998	ORC1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2554
4998	ORC1	HP:0001263	Global developmental delay	-	OMIM:615777
4998	ORC1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:2554
4998	ORC1	HP:0008665	Clitoral hypertrophy	-	OMIM:224690
4998	ORC1	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:2554
4998	ORC1	HP:0002515	Waddling gait	54/102	OMIM:131300
4998	ORC1	HP:0000064	Hypoplastic labia minora	-	OMIM:224690
4998	ORC1	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:2554
4998	ORC1	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:2554
4998	ORC1	HP:0000059	Hypoplastic labia majora	-	OMIM:224690
4998	ORC1	HP:0000059	Hypoplastic labia majora	HP:0040282	ORPHA:2554
4998	ORC1	HP:0001371	Flexion contracture	-	OMIM:224690
4998	ORC1	HP:0000039	Epispadias	HP:0040283	ORPHA:2554
4998	ORC1	HP:0000054	Micropenis	1/3	OMIM:224690
4998	ORC1	HP:0001382	Joint hypermobility	-	OMIM:224690
4998	ORC1	HP:0001382	Joint hypermobility	-	OMIM:615777
4998	ORC1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:2554
4998	ORC1	HP:0000047	Hypospadias	HP:0040283	ORPHA:2554
4998	ORC1	HP:0000049	Shawl scrotum	-	OMIM:224690
4998	ORC1	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:2554
4998	ORC1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
4998	ORC1	HP:0000028	Cryptorchidism	2/3	OMIM:224690
4998	ORC1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2554
4998	ORC1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
4998	ORC1	HP:0008872	Feeding difficulties in infancy	2/2	OMIM:224690
4998	ORC1	HP:0001328	Specific learning disability	HP:0040283	ORPHA:2554
4998	ORC1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
4998	ORC1	HP:0001324	Muscle weakness	40/96	OMIM:131300
4998	ORC1	HP:0002673	Coxa valga	-	OMIM:224690
4998	ORC1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
4998	ORC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
4998	ORC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:224690
4998	ORC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
4998	ORC1	HP:0002650	Scoliosis	12/14	OMIM:131300
4998	ORC1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
4998	ORC1	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:224690
4998	ORC1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
4998	ORC1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
4998	ORC1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
4998	ORC1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:2554
4998	ORC1	HP:0000160	Narrow mouth	3/4	OMIM:224690
4998	ORC1	HP:0000160	Narrow mouth	HP:0040281	ORPHA:2554
4998	ORC1	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:2554
4998	ORC1	HP:0000175	Cleft palate	-	OMIM:224690
4998	ORC1	HP:0000175	Cleft palate	2/7	OMIM:615777
4998	ORC1	HP:0000175	Cleft palate	HP:0040283	ORPHA:2554
4998	ORC1	HP:0002705	High, narrow palate	HP:0040282	ORPHA:2554
4998	ORC1	HP:0002750	Delayed skeletal maturation	2/2	OMIM:224690
4998	ORC1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2554
4998	ORC1	HP:0002020	Gastroesophageal reflux	-	OMIM:224690
4998	ORC1	HP:0002007	Frontal bossing	-	OMIM:224690
4998	ORC1	HP:0002098	Respiratory distress	-	OMIM:224690
4998	ORC1	HP:0002098	Respiratory distress	HP:0040282	ORPHA:2554
4998	ORC1	HP:0002097	Emphysema	1/3	OMIM:224690
4998	ORC1	HP:0002094	Dyspnea	HP:0040282	ORPHA:2554
4998	ORC1	HP:0003388	Easy fatigability	36/76	OMIM:131300
4998	ORC1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
4998	ORC1	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2554
4998	ORC1	HP:0009473	Joint contracture of the hand	-	OMIM:224690
4998	ORC1	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:2554
4998	ORC1	HP:0010554	Cutaneous finger syndactyly	-	OMIM:224690
4998	ORC1	HP:0003577	Congenital onset	4/4	OMIM:224690
4998	ORC1	HP:0003561	Birth length less than 3rd percentile	-	OMIM:224690
4998	ORC1	HP:0100783	Breast aplasia	HP:0040283	ORPHA:2554
4998	ORC1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:2554
4998	ORC1	HP:0003510	Severe short stature	7/7	OMIM:615777
4998	ORC1	HP:0003510	Severe short stature	HP:0040281	ORPHA:2554
4998	ORC1	HP:0002315	Headache	-	OMIM:131300
4998	ORC1	HP:0004976	Knee dislocation	6/7	OMIM:615777
4998	ORC1	HP:0009803	Short phalanx of finger	-	OMIM:615777
4998	ORC1	HP:0200055	Small hand	-	OMIM:224690
4998	ORC1	HP:0009763	Limb pain	63/92	OMIM:131300
4998	ORC1	HP:0003621	Juvenile onset	-	OMIM:131300
4998	ORC1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
4998	ORC1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:224690
4998	ORC1	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:2554
4998	ORC1	HP:0004279	Short palm	-	OMIM:224690
4998	ORC1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
4998	ORC1	HP:6001056	Out-toeing	-	OMIM:131300
4998	ORC1	HP:0000651	Diplopia	-	OMIM:131300
4998	ORC1	HP:0001956	Truncal obesity	2/7	OMIM:615777
4998	ORC1	HP:0001903	Anemia	HP:0040283	OMIM:131300
4998	ORC1	HP:0010049	Short metacarpal	-	OMIM:615777
4998	ORC1	HP:0000678	Dental crowding	-	OMIM:615777
4998	ORC1	HP:0000691	Microdontia	-	OMIM:224690
4998	ORC1	HP:0000670	Carious teeth	-	OMIM:131300
4998	ORC1	HP:0011304	Broad thumb	2/7	OMIM:615777
4998	ORC1	HP:0000668	Hypodontia	-	OMIM:615777
4998	ORC1	HP:0000664	Synophrys	-	OMIM:615777
4998	ORC1	HP:0004396	Poor appetite	-	OMIM:131300
4998	ORC1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
4998	ORC1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
4998	ORC1	HP:0003042	Elbow dislocation	-	OMIM:224690
4998	ORC1	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:2554
4998	ORC1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
4998	ORC1	HP:0003026	Short long bone	7/7	OMIM:615777
4998	ORC1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
4998	ORC1	HP:0012745	Short palpebral fissure	-	OMIM:224690
4998	ORC1	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:2554
4998	ORC1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
4998	ORC1	HP:0000768	Pectus carinatum	-	OMIM:224690
4998	ORC1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
4998	ORC1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
4998	ORC1	HP:0000750	Delayed speech and language development	-	OMIM:615777
4998	ORC1	HP:0011461	Fetal onset	7/7	OMIM:615777
4998	ORC1	HP:0000774	Narrow chest	2/7	OMIM:615777
4998	ORC1	HP:0000773	Short ribs	-	OMIM:224690
4998	ORC1	HP:0003100	Slender long bone	3/3	OMIM:224690
4998	ORC1	HP:0003100	Slender long bone	HP:0040281	ORPHA:2554
4998	ORC1	HP:0000911	Flat glenoid fossa	-	OMIM:224690
4998	ORC1	HP:0000926	Platyspondyly	1/7	OMIM:615777
4998	ORC1	HP:0003187	Breast hypoplasia	1/1	OMIM:224690
4998	ORC1	HP:0003180	Flat acetabular roof	-	OMIM:615777
4998	ORC1	HP:0004482	Relative macrocephaly	-	OMIM:615777
4998	ORC1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
4998	ORC1	HP:0000883	Thin ribs	-	OMIM:224690
4998	ORC1	HP:0000823	Delayed puberty	-	OMIM:131300
4998	ORC1	HP:0000895	Lateral clavicle hook	-	OMIM:224690
4998	ORC1	HP:0000894	Short clavicles	-	OMIM:615777
4998	ORC1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
4998	ORC1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
4998	ORC1	HP:0000963	Thin skin	-	OMIM:224690
4998	ORC1	HP:0000286	Epicanthus	1/7	OMIM:615777
4998	ORC1	HP:0000280	Coarse facial features	2/7	OMIM:615777
4998	ORC1	HP:0000278	Retrognathia	HP:0040281	ORPHA:2554
4998	ORC1	HP:0006443	Patellar aplasia	3/3	OMIM:224690
4998	ORC1	HP:0006443	Patellar aplasia	HP:0040282	ORPHA:2554
4998	ORC1	HP:0002816	Genu recurvatum	3/4	OMIM:224690
4998	ORC1	HP:0002827	Hip dislocation	3/7	OMIM:615777
4998	ORC1	HP:0000237	Small anterior fontanelle	-	OMIM:224690
4998	ORC1	HP:0000252	Microcephaly	-	OMIM:224690
4998	ORC1	HP:0000252	Microcephaly	HP:0040281	ORPHA:2554
4998	ORC1	HP:0000252	Microcephaly	-	OMIM:615777
4998	ORC1	HP:0001547	Abnormal rib cage morphology	-	OMIM:224690
4998	ORC1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:2554
4998	ORC1	HP:0000218	High palate	-	OMIM:224690
4998	ORC1	HP:0002857	Genu valgum	-	OMIM:131300
4998	ORC1	HP:0002857	Genu valgum	-	OMIM:224690
4998	ORC1	HP:0001522	Death in infancy	2/4	OMIM:224690
4998	ORC1	HP:0001533	Slender build	-	OMIM:131300
4998	ORC1	HP:0001508	Failure to thrive	-	OMIM:224690
4998	ORC1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2554
4998	ORC1	HP:0001518	Small for gestational age	-	OMIM:224690
4998	ORC1	HP:0001511	Intrauterine growth retardation	-	OMIM:224690
4998	ORC1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
4998	ORC1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2554
4998	ORC1	HP:0001510	Growth delay	HP:0040281	ORPHA:2554
4998	ORC1	HP:0007807	Optic nerve compression	-	OMIM:131300
4998	ORC1	HP:0012385	Camptodactyly	-	OMIM:224690
4998	ORC1	HP:0012368	Flat face	7/7	OMIM:615777
4998	ORC1	HP:0006591	Absent glenoid fossa	-	OMIM:224690
4998	ORC1	HP:0002937	Hemivertebrae	-	OMIM:224690
4998	ORC1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
4998	ORC1	HP:0006498	Aplasia/Hypoplasia of the patella	-	OMIM:224690
4998	ORC1	HP:0000365	Hearing impairment	-	OMIM:224690
4998	ORC1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2554
4998	ORC1	HP:0000365	Hearing impairment	10/67	OMIM:131300
4998	ORC1	HP:0000356	Abnormality of the outer ear	HP:0040281	ORPHA:2554
4998	ORC1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2554
4998	ORC1	HP:0000376	Incomplete partition of the cochlea type II	-	OMIM:224690
4998	ORC1	HP:0000369	Low-set ears	4/4	OMIM:224690
4998	ORC1	HP:0000369	Low-set ears	HP:0040282	ORPHA:2554
4998	ORC1	HP:0000343	Long philtrum	1/7	OMIM:615777
4998	ORC1	HP:0011001	Increased bone mineral density	-	OMIM:131300
4998	ORC1	HP:0000347	Micrognathia	12/14	OMIM:224690
4998	ORC1	HP:0000347	Micrognathia	HP:0040281	ORPHA:2554
4998	ORC1	HP:0000311	Round face	2/7	OMIM:615777
4998	ORC1	HP:0000327	Hypoplasia of the maxilla	-	OMIM:224690
4998	ORC1	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:2554
4998	ORC1	HP:0001623	Breech presentation	-	OMIM:224690
4998	ORC1	HP:0002970	Genu varum	-	OMIM:224690
4998	ORC1	HP:0002970	Genu varum	-	OMIM:615777
4998	ORC1	HP:0000303	Mandibular prognathia	-	OMIM:131300
4998	ORC1	HP:0006628	Absent sternal ossification	-	OMIM:224690
4998	ORC1	HP:0006660	Aplastic clavicle	HP:0040282	ORPHA:2554
4998	ORC1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
4998	ORC1	HP:0000486	Strabismus	-	OMIM:224690
4998	ORC1	HP:0012471	Thick vermilion border	3/4	OMIM:224690
4998	ORC1	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:2554
4998	ORC1	HP:0001795	Hyperconvex nail	-	OMIM:224690
4998	ORC1	HP:0000470	Short neck	1/7	OMIM:615777
4998	ORC1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
4998	ORC1	HP:0001763	Pes planus	1/7	OMIM:615777
4998	ORC1	HP:0000413	Atresia of the external auditory canal	-	OMIM:224690
4998	ORC1	HP:0000413	Atresia of the external auditory canal	HP:0040281	ORPHA:2554
4998	ORC1	HP:0001762	Talipes equinovarus	-	OMIM:224690
4998	ORC1	HP:0011267	Microtia, third degree	HP:0040281	ORPHA:2554
4998	ORC1	HP:0001840	Metatarsus adductus	-	OMIM:615777
4998	ORC1	HP:0000527	Long eyelashes	-	OMIM:224690
4998	ORC1	HP:0000520	Proptosis	2/4	OMIM:131300
4998	ORC1	HP:0000520	Proptosis	7/7	OMIM:615777
4998	ORC1	HP:0000581	Blepharophimosis	-	OMIM:224690
4998	ORC1	HP:0000592	Blue sclerae	2/7	OMIM:615777
4998	ORC1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
4998	ORC1	HP:0012514	Lower limb pain	4/4	OMIM:131300
5000	ORC4	HP:0009939	Mandibular aplasia	HP:0040281	ORPHA:2554
5000	ORC4	HP:0009892	Anotia	HP:0040281	ORPHA:2554
5000	ORC4	HP:0008551	Microtia	3/3	OMIM:613800
5000	ORC4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5000	ORC4	HP:0001293	Cranial nerve compression	-	OMIM:131300
5000	ORC4	HP:0001252	Hypotonia	2/7	OMIM:615777
5000	ORC4	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2554
5000	ORC4	HP:0001249	Intellectual disability	5/7	OMIM:615777
5000	ORC4	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2554
5000	ORC4	HP:0001263	Global developmental delay	-	OMIM:615777
5000	ORC4	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:2554
5000	ORC4	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:2554
5000	ORC4	HP:0008665	Clitoral hypertrophy	-	OMIM:613800
5000	ORC4	HP:0002515	Waddling gait	54/102	OMIM:131300
5000	ORC4	HP:0000066	Labial hypoplasia	-	OMIM:613800
5000	ORC4	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:2554
5000	ORC4	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:2554
5000	ORC4	HP:0000059	Hypoplastic labia majora	HP:0040282	ORPHA:2554
5000	ORC4	HP:0000059	Hypoplastic labia majora	-	OMIM:613800
5000	ORC4	HP:0000039	Epispadias	HP:0040283	ORPHA:2554
5000	ORC4	HP:0001382	Joint hypermobility	-	OMIM:613800
5000	ORC4	HP:0001382	Joint hypermobility	-	OMIM:615777
5000	ORC4	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:2554
5000	ORC4	HP:0000047	Hypospadias	HP:0040283	ORPHA:2554
5000	ORC4	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:2554
5000	ORC4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5000	ORC4	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2554
5000	ORC4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5000	ORC4	HP:0001328	Specific learning disability	HP:0040283	ORPHA:2554
5000	ORC4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5000	ORC4	HP:0001324	Muscle weakness	40/96	OMIM:131300
5000	ORC4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5000	ORC4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5000	ORC4	HP:0000007	Autosomal recessive inheritance	-	OMIM:613800
5000	ORC4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5000	ORC4	HP:0002650	Scoliosis	12/14	OMIM:131300
5000	ORC4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5000	ORC4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5000	ORC4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5000	ORC4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5000	ORC4	HP:0000193	Bifid uvula	HP:0040283	ORPHA:2554
5000	ORC4	HP:0000160	Narrow mouth	HP:0040281	ORPHA:2554
5000	ORC4	HP:0000160	Narrow mouth	2/2	OMIM:613800
5000	ORC4	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:2554
5000	ORC4	HP:0000175	Cleft palate	2/7	OMIM:615777
5000	ORC4	HP:0000175	Cleft palate	HP:0040283	ORPHA:2554
5000	ORC4	HP:0002705	High, narrow palate	HP:0040282	ORPHA:2554
5000	ORC4	HP:0002780	Bronchomalacia	-	OMIM:613800
5000	ORC4	HP:0002779	Tracheomalacia	-	OMIM:613800
5000	ORC4	HP:0002750	Delayed skeletal maturation	2/2	OMIM:613800
5000	ORC4	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2554
5000	ORC4	HP:0002020	Gastroesophageal reflux	-	OMIM:613800
5000	ORC4	HP:0002098	Respiratory distress	HP:0040282	ORPHA:2554
5000	ORC4	HP:0002094	Dyspnea	HP:0040282	ORPHA:2554
5000	ORC4	HP:0003388	Easy fatigability	36/76	OMIM:131300
5000	ORC4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5000	ORC4	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2554
5000	ORC4	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:2554
5000	ORC4	HP:0003577	Congenital onset	3/3	OMIM:613800
5000	ORC4	HP:0003561	Birth length less than 3rd percentile	1/1	OMIM:613800
5000	ORC4	HP:0100783	Breast aplasia	HP:0040283	ORPHA:2554
5000	ORC4	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:2554
5000	ORC4	HP:0011968	Feeding difficulties	3/3	OMIM:613800
5000	ORC4	HP:0003510	Severe short stature	7/7	OMIM:615777
5000	ORC4	HP:0003510	Severe short stature	HP:0040281	ORPHA:2554
5000	ORC4	HP:0002315	Headache	-	OMIM:131300
5000	ORC4	HP:0004976	Knee dislocation	6/7	OMIM:615777
5000	ORC4	HP:0009803	Short phalanx of finger	-	OMIM:615777
5000	ORC4	HP:0009763	Limb pain	63/92	OMIM:131300
5000	ORC4	HP:0003621	Juvenile onset	-	OMIM:131300
5000	ORC4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5000	ORC4	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:2554
5000	ORC4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5000	ORC4	HP:6001056	Out-toeing	-	OMIM:131300
5000	ORC4	HP:0000651	Diplopia	-	OMIM:131300
5000	ORC4	HP:0001956	Truncal obesity	2/7	OMIM:615777
5000	ORC4	HP:0001903	Anemia	HP:0040283	OMIM:131300
5000	ORC4	HP:0010049	Short metacarpal	-	OMIM:615777
5000	ORC4	HP:0000678	Dental crowding	-	OMIM:615777
5000	ORC4	HP:0000670	Carious teeth	-	OMIM:131300
5000	ORC4	HP:0011304	Broad thumb	2/7	OMIM:615777
5000	ORC4	HP:0000668	Hypodontia	-	OMIM:615777
5000	ORC4	HP:0000664	Synophrys	-	OMIM:615777
5000	ORC4	HP:0004322	Short stature	3/3	OMIM:613800
5000	ORC4	HP:0004396	Poor appetite	-	OMIM:131300
5000	ORC4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5000	ORC4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5000	ORC4	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:2554
5000	ORC4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5000	ORC4	HP:0003026	Short long bone	7/7	OMIM:615777
5000	ORC4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5000	ORC4	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:2554
5000	ORC4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5000	ORC4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5000	ORC4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5000	ORC4	HP:0000750	Delayed speech and language development	-	OMIM:615777
5000	ORC4	HP:0011461	Fetal onset	7/7	OMIM:615777
5000	ORC4	HP:0000774	Narrow chest	2/7	OMIM:615777
5000	ORC4	HP:0003100	Slender long bone	HP:0040281	ORPHA:2554
5000	ORC4	HP:0003100	Slender long bone	2/2	OMIM:613800
5000	ORC4	HP:0000926	Platyspondyly	1/7	OMIM:615777
5000	ORC4	HP:0003187	Breast hypoplasia	1/1	OMIM:613800
5000	ORC4	HP:0003180	Flat acetabular roof	-	OMIM:615777
5000	ORC4	HP:0004482	Relative macrocephaly	-	OMIM:615777
5000	ORC4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5000	ORC4	HP:0000823	Delayed puberty	-	OMIM:131300
5000	ORC4	HP:0000894	Short clavicles	-	OMIM:615777
5000	ORC4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5000	ORC4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5000	ORC4	HP:0000286	Epicanthus	1/7	OMIM:615777
5000	ORC4	HP:0000280	Coarse facial features	2/7	OMIM:615777
5000	ORC4	HP:0000278	Retrognathia	HP:0040281	ORPHA:2554
5000	ORC4	HP:0000268	Dolichocephaly	-	OMIM:613800
5000	ORC4	HP:0006443	Patellar aplasia	HP:0040282	ORPHA:2554
5000	ORC4	HP:0006443	Patellar aplasia	1/3	OMIM:613800
5000	ORC4	HP:0002827	Hip dislocation	3/7	OMIM:615777
5000	ORC4	HP:0000252	Microcephaly	2/3	OMIM:613800
5000	ORC4	HP:0000252	Microcephaly	HP:0040281	ORPHA:2554
5000	ORC4	HP:0000252	Microcephaly	-	OMIM:615777
5000	ORC4	HP:0002878	Respiratory failure	HP:0040282	ORPHA:2554
5000	ORC4	HP:0002857	Genu valgum	-	OMIM:131300
5000	ORC4	HP:0001533	Slender build	-	OMIM:131300
5000	ORC4	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2554
5000	ORC4	HP:0001508	Failure to thrive	-	OMIM:613800
5000	ORC4	HP:0001511	Intrauterine growth retardation	-	OMIM:613800
5000	ORC4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5000	ORC4	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2554
5000	ORC4	HP:0001510	Growth delay	HP:0040281	ORPHA:2554
5000	ORC4	HP:0007807	Optic nerve compression	-	OMIM:131300
5000	ORC4	HP:0012385	Camptodactyly	-	OMIM:613800
5000	ORC4	HP:0012368	Flat face	7/7	OMIM:615777
5000	ORC4	HP:0000377	Abnormal pinna morphology	-	OMIM:613800
5000	ORC4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5000	ORC4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2554
5000	ORC4	HP:0000365	Hearing impairment	10/67	OMIM:131300
5000	ORC4	HP:0000356	Abnormality of the outer ear	HP:0040281	ORPHA:2554
5000	ORC4	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2554
5000	ORC4	HP:0000369	Low-set ears	HP:0040282	ORPHA:2554
5000	ORC4	HP:0000343	Long philtrum	1/7	OMIM:615777
5000	ORC4	HP:0011001	Increased bone mineral density	-	OMIM:131300
5000	ORC4	HP:0000347	Micrognathia	HP:0040281	ORPHA:2554
5000	ORC4	HP:0000347	Micrognathia	12/12	OMIM:613800
5000	ORC4	HP:0000319	Smooth philtrum	-	OMIM:613800
5000	ORC4	HP:0000311	Round face	2/7	OMIM:615777
5000	ORC4	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:2554
5000	ORC4	HP:0001620	Abnormally high-pitched voice	-	OMIM:613800
5000	ORC4	HP:0002970	Genu varum	-	OMIM:615777
5000	ORC4	HP:0000303	Mandibular prognathia	-	OMIM:131300
5000	ORC4	HP:0006660	Aplastic clavicle	HP:0040282	ORPHA:2554
5000	ORC4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5000	ORC4	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:2554
5000	ORC4	HP:0000470	Short neck	1/7	OMIM:615777
5000	ORC4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5000	ORC4	HP:0001763	Pes planus	1/7	OMIM:615777
5000	ORC4	HP:0000413	Atresia of the external auditory canal	HP:0040281	ORPHA:2554
5000	ORC4	HP:0000430	Underdeveloped nasal alae	-	OMIM:613800
5000	ORC4	HP:0011267	Microtia, third degree	HP:0040281	ORPHA:2554
5000	ORC4	HP:0001840	Metatarsus adductus	-	OMIM:615777
5000	ORC4	HP:0000520	Proptosis	2/4	OMIM:131300
5000	ORC4	HP:0000520	Proptosis	7/7	OMIM:615777
5000	ORC4	HP:0000592	Blue sclerae	2/7	OMIM:615777
5000	ORC4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5000	ORC4	HP:0012514	Lower limb pain	4/4	OMIM:131300
5002	SLC67A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:268210
5002	SLC67A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
5002	SLC67A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:211980
5002	SLC67A1	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
5002	SLC67A1	HP:0001442	Typified by somatic mosaicism	-	OMIM:211980
5002	SLC67A1	HP:0003002	Breast carcinoma	-	OMIM:114480
5002	SLC67A1	HP:0030078	Lung adenocarcinoma	-	OMIM:211980
5002	SLC67A1	HP:0006519	Alveolar cell carcinoma	-	OMIM:211980
5002	SLC67A1	HP:0006743	Embryonal rhabdomyosarcoma	-	OMIM:268210
5002	SLC67A1	HP:0030358	Non-small cell lung carcinoma	-	OMIM:211980
5009	OTC	HP:0001298	Encephalopathy	HP:0040282	ORPHA:664
5009	OTC	HP:0001297	Stroke	HP:0040283	OMIM:311250
5009	OTC	HP:0001254	Lethargy	26/69	OMIM:311250
5009	OTC	HP:0001254	Lethargy	HP:0040282	ORPHA:664
5009	OTC	HP:0001250	Seizure	HP:0040282	ORPHA:664
5009	OTC	HP:0001250	Seizure	17/69	OMIM:311250
5009	OTC	HP:0001252	Hypotonia	HP:0040282	ORPHA:664
5009	OTC	HP:0001251	Ataxia	-	OMIM:311250
5009	OTC	HP:0001249	Intellectual disability	-	OMIM:311250
5009	OTC	HP:0001263	Global developmental delay	11/69	OMIM:311250
5009	OTC	HP:0001259	Coma	31/69	OMIM:311250
5009	OTC	HP:0001259	Coma	HP:0040282	ORPHA:664
5009	OTC	HP:0002572	Episodic vomiting	HP:0040283	ORPHA:664
5009	OTC	HP:0001399	Hepatic failure	HP:0040281	ORPHA:664
5009	OTC	HP:0001328	Specific learning disability	HP:0040283	ORPHA:664
5009	OTC	HP:0001419	X-linked recessive inheritance	-	OMIM:311250
5009	OTC	HP:0031258	Delirium	HP:0040283	ORPHA:664
5009	OTC	HP:0003355	Aminoaciduria	HP:0040281	ORPHA:664
5009	OTC	HP:0002033	Poor suck	HP:0040282	ORPHA:664
5009	OTC	HP:0002027	Abdominal pain	4/69	OMIM:311250
5009	OTC	HP:0002013	Vomiting	48/69	OMIM:311250
5009	OTC	HP:0005961	Hypoargininemia	HP:0040282	ORPHA:664
5009	OTC	HP:0002045	Hypothermia	HP:0040282	ORPHA:664
5009	OTC	HP:0002038	Protein avoidance	HP:0040282	ORPHA:664
5009	OTC	HP:0002038	Protein avoidance	-	OMIM:311250
5009	OTC	HP:0002039	Anorexia	HP:0040282	ORPHA:664
5009	OTC	HP:0033139	Elevated circulating uracil concentration	51/54	OMIM:311250
5009	OTC	HP:0008151	Prolonged prothrombin time	11/54	OMIM:311250
5009	OTC	HP:0002131	Episodic ataxia	-	OMIM:311250
5009	OTC	HP:0002181	Cerebral edema	-	OMIM:311250
5009	OTC	HP:0003593	Infantile onset	8/68	OMIM:311250
5009	OTC	HP:0003572	Low plasma citrulline	HP:0040282	ORPHA:664
5009	OTC	HP:0003572	Low plasma citrulline	30/63	OMIM:311250
5009	OTC	HP:0003581	Adult onset	3/68	OMIM:311250
5009	OTC	HP:6000334	Reduced hepatic ornithine transcarbamylase activity	-	OMIM:311250
5009	OTC	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:664
5009	OTC	HP:0003645	Prolonged partial thromboplastin time	HP:0040283	ORPHA:664
5009	OTC	HP:0002329	Drowsiness	HP:0040282	ORPHA:664
5009	OTC	HP:0003623	Neonatal onset	15/68	OMIM:311250
5009	OTC	HP:0003621	Juvenile onset	4/68	OMIM:311250
5009	OTC	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:664
5009	OTC	HP:0001951	Episodic ammonia intoxication	-	OMIM:311250
5009	OTC	HP:0001950	Respiratory alkalosis	HP:0040282	ORPHA:664
5009	OTC	HP:0001950	Respiratory alkalosis	-	OMIM:311250
5009	OTC	HP:0001987	Hyperammonemia	54/54	OMIM:311250
5009	OTC	HP:0001987	Hyperammonemia	HP:0040281	ORPHA:664
5009	OTC	HP:0031956	Elevated circulating aspartate aminotransferase concentration	28/38	OMIM:311250
5009	OTC	HP:0031964	Elevated circulating alanine aminotransferase concentration	38/52	OMIM:311250
5009	OTC	HP:0000737	Irritability	17/69	OMIM:311250
5009	OTC	HP:0000739	Anxiety	HP:0040283	ORPHA:664
5009	OTC	HP:0000716	Depression	HP:0040283	ORPHA:664
5009	OTC	HP:0011463	Childhood onset	38/68	OMIM:311250
5009	OTC	HP:0003217	Hyperglutaminemia	12/54	OMIM:311250
5009	OTC	HP:0003218	Oroticaciduria	HP:0040282	ORPHA:664
5009	OTC	HP:0003218	Oroticaciduria	53/56	OMIM:311250
5009	OTC	HP:0001508	Failure to thrive	-	OMIM:311250
5009	OTC	HP:0001508	Failure to thrive	HP:0040283	ORPHA:664
5009	OTC	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:664
5009	OTC	HP:0002908	Conjugated hyperbilirubinemia	HP:0040283	ORPHA:664
5009	OTC	HP:0001744	Splenomegaly	HP:0040281	ORPHA:664
5010	CLDN11	HP:0001260	Dysarthria	3/3	OMIM:619328
5010	CLDN11	HP:0002540	Inability to walk	2/3	OMIM:619328
5010	CLDN11	HP:0001371	Flexion contracture	3/3	OMIM:619328
5010	CLDN11	HP:0025336	Delayed ability to sit	3/3	OMIM:619328
5010	CLDN11	HP:0000006	Autosomal dominant inheritance	-	OMIM:619328
5010	CLDN11	HP:0008936	Axial hypotonia	1/3	OMIM:619328
5010	CLDN11	HP:0003487	Babinski sign	3/3	OMIM:619328
5010	CLDN11	HP:0003429	CNS hypomyelination	3/3	OMIM:619328
5010	CLDN11	HP:0003593	Infantile onset	3/3	OMIM:619328
5010	CLDN11	HP:0002395	Lower limb hyperreflexia	3/3	OMIM:619328
5010	CLDN11	HP:0200049	Upper limb hypertonia	3/3	OMIM:619328
5010	CLDN11	HP:0002307	Drooling	3/3	OMIM:619328
5010	CLDN11	HP:0006889	Intellectual disability, borderline	3/3	OMIM:619328
5010	CLDN11	HP:0006895	Lower limb hypertonia	3/3	OMIM:619328
5010	CLDN11	HP:0000639	Nystagmus	3/3	OMIM:619328
5010	CLDN11	HP:0031936	Delayed ability to walk	3/3	OMIM:619328
5010	CLDN11	HP:0000750	Delayed speech and language development	3/3	OMIM:619328
5010	CLDN11	HP:0000483	Astigmatism	3/3	OMIM:619328
5010	CLDN11	HP:0000486	Strabismus	3/3	OMIM:619328
5010	CLDN11	HP:0000470	Short neck	1/3	OMIM:619328
5010	CLDN11	HP:0001763	Pes planus	1/3	OMIM:619328
5010	CLDN11	HP:0000540	Hypermetropia	3/3	OMIM:619328
5010	CLDN11	HP:0000543	Optic disc pallor	1/3	OMIM:619328
5015	OTX2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5015	OTX2	HP:0009939	Mandibular aplasia	HP:0040281	ORPHA:990
5015	OTX2	HP:0009914	Cyclopia	HP:0040281	ORPHA:990
5015	OTX2	HP:0009924	Aplasia/Hypoplasia involving the nose	HP:0040281	ORPHA:990
5015	OTX2	HP:0009888	Abnormality of secondary sexual hair	HP:0040282	ORPHA:95494
5015	OTX2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5015	OTX2	HP:0001293	Cranial nerve compression	-	OMIM:131300
5015	OTX2	HP:0001290	Generalized hypotonia	-	OMIM:610125
5015	OTX2	HP:0001291	Abnormal cranial nerve morphology	HP:0040281	ORPHA:990
5015	OTX2	HP:0001274	Agenesis of corpus callosum	HP:0040284	ORPHA:95494
5015	OTX2	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:990
5015	OTX2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:3157
5015	OTX2	HP:0001250	Seizure	HP:0040282	ORPHA:3157
5015	OTX2	HP:0001250	Seizure	HP:0040284	ORPHA:95494
5015	OTX2	HP:0001250	Seizure	-	OMIM:610125
5015	OTX2	HP:0001250	Seizure	1/2	OMIM:613986
5015	OTX2	HP:0001252	Hypotonia	-	OMIM:610125
5015	OTX2	HP:0001252	Hypotonia	2/7	OMIM:615777
5015	OTX2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3157
5015	OTX2	HP:0001249	Intellectual disability	5/7	OMIM:615777
5015	OTX2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:3157
5015	OTX2	HP:0001263	Global developmental delay	-	OMIM:610125
5015	OTX2	HP:0001263	Global developmental delay	-	OMIM:615777
5015	OTX2	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:3157
5015	OTX2	HP:0100842	Septo-optic dysplasia	HP:0040284	ORPHA:95494
5015	OTX2	HP:0100842	Septo-optic dysplasia	HP:0040281	ORPHA:3157
5015	OTX2	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:990
5015	OTX2	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:95494
5015	OTX2	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:990
5015	OTX2	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:3157
5015	OTX2	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:990
5015	OTX2	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:3157
5015	OTX2	HP:0031098	Decreased thyroid-stimulating hormone level	2/2	OMIM:613986
5015	OTX2	HP:0002515	Waddling gait	54/102	OMIM:131300
5015	OTX2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:95494
5015	OTX2	HP:0000054	Micropenis	HP:0040283	OMIM:610125
5015	OTX2	HP:0001382	Joint hypermobility	-	OMIM:610125
5015	OTX2	HP:0001382	Joint hypermobility	-	OMIM:615777
5015	OTX2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5015	OTX2	HP:0001360	Holoprosencephaly	HP:0040281	ORPHA:990
5015	OTX2	HP:0001360	Holoprosencephaly	HP:0040284	ORPHA:95494
5015	OTX2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3157
5015	OTX2	HP:0000028	Cryptorchidism	HP:0040283	OMIM:610125
5015	OTX2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5015	OTX2	HP:0001331	Absent septum pellucidum	HP:0040284	ORPHA:95494
5015	OTX2	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:3157
5015	OTX2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5015	OTX2	HP:0001324	Muscle weakness	40/96	OMIM:131300
5015	OTX2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5015	OTX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5015	OTX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5015	OTX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5015	OTX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:610125
5015	OTX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613986
5015	OTX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5015	OTX2	HP:0002650	Scoliosis	12/14	OMIM:131300
5015	OTX2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5015	OTX2	HP:0002615	Hypotension	HP:0040282	ORPHA:95494
5015	OTX2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5015	OTX2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5015	OTX2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5015	OTX2	HP:0000160	Narrow mouth	HP:0040281	ORPHA:990
5015	OTX2	HP:0000175	Cleft palate	HP:0040282	ORPHA:3157
5015	OTX2	HP:0000175	Cleft palate	HP:0040283	OMIM:610125
5015	OTX2	HP:0000175	Cleft palate	2/7	OMIM:615777
5015	OTX2	HP:0000171	Microglossia	HP:0040281	ORPHA:990
5015	OTX2	HP:0000141	Amenorrhea	HP:0040282	ORPHA:95494
5015	OTX2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5015	OTX2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5015	OTX2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:95494
5015	OTX2	HP:0002019	Constipation	HP:0040283	ORPHA:95494
5015	OTX2	HP:0002019	Constipation	HP:0040283	ORPHA:3157
5015	OTX2	HP:0002032	Esophageal atresia	HP:0040283	ORPHA:3157
5015	OTX2	HP:0004637	Decreased cervical spine mobility	HP:0040284	ORPHA:95494
5015	OTX2	HP:0002098	Respiratory distress	HP:0040281	ORPHA:990
5015	OTX2	HP:0003388	Easy fatigability	36/76	OMIM:131300
5015	OTX2	HP:0010442	Polydactyly	HP:0040284	ORPHA:95494
5015	OTX2	HP:0011755	Ectopic posterior pituitary	HP:0040284	ORPHA:95494
5015	OTX2	HP:0011755	Ectopic posterior pituitary	2/2	OMIM:613986
5015	OTX2	HP:0011755	Ectopic posterior pituitary	HP:0040283	OMIM:610125
5015	OTX2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5015	OTX2	HP:0011757	Posterior pituitary hypoplasia	1/2	OMIM:613986
5015	OTX2	HP:0100596	Absent nares	HP:0040281	ORPHA:990
5015	OTX2	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:95494
5015	OTX2	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:95494
5015	OTX2	HP:0011968	Feeding difficulties	1/2	OMIM:613986
5015	OTX2	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:95494
5015	OTX2	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:3157
5015	OTX2	HP:0010626	Anterior pituitary agenesis	HP:0040282	ORPHA:95494
5015	OTX2	HP:0003510	Severe short stature	7/7	OMIM:615777
5015	OTX2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:3157
5015	OTX2	HP:0002315	Headache	-	OMIM:131300
5015	OTX2	HP:0004976	Knee dislocation	6/7	OMIM:615777
5015	OTX2	HP:0100663	Synotia	HP:0040281	ORPHA:990
5015	OTX2	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:3157
5015	OTX2	HP:0009803	Short phalanx of finger	-	OMIM:615777
5015	OTX2	HP:0008499	High hypermetropia	HP:0040281	ORPHA:35612
5015	OTX2	HP:0009763	Limb pain	63/92	OMIM:131300
5015	OTX2	HP:0003623	Neonatal onset	2/2	OMIM:613986
5015	OTX2	HP:0003621	Juvenile onset	8/19	OMIM:180100
5015	OTX2	HP:0003621	Juvenile onset	-	OMIM:131300
5015	OTX2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5015	OTX2	HP:0009099	Median cleft palate	HP:0040284	ORPHA:95494
5015	OTX2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5015	OTX2	HP:0000639	Nystagmus	HP:0040282	ORPHA:3157
5015	OTX2	HP:6001056	Out-toeing	-	OMIM:131300
5015	OTX2	HP:0000651	Diplopia	-	OMIM:131300
5015	OTX2	HP:0001943	Hypoglycemia	1/2	OMIM:613986
5015	OTX2	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:95494
5015	OTX2	HP:0000610	Abnormal choroid morphology	HP:0040281	ORPHA:35612
5015	OTX2	HP:0001959	Polydipsia	HP:0040283	ORPHA:3157
5015	OTX2	HP:0001956	Truncal obesity	2/7	OMIM:615777
5015	OTX2	HP:0000609	Optic nerve hypoplasia	-	OMIM:610125
5015	OTX2	HP:0000609	Optic nerve hypoplasia	HP:0040284	ORPHA:95494
5015	OTX2	HP:0000609	Optic nerve hypoplasia	HP:0040281	ORPHA:3157
5015	OTX2	HP:0001903	Anemia	HP:0040283	OMIM:131300
5015	OTX2	HP:0010049	Short metacarpal	-	OMIM:615777
5015	OTX2	HP:0011386	Narrow internal auditory canal	HP:0040281	ORPHA:990
5015	OTX2	HP:0011344	Severe global developmental delay	HP:0040284	ORPHA:95494
5015	OTX2	HP:0000678	Dental crowding	-	OMIM:615777
5015	OTX2	HP:0000662	Nyctalopia	26/28	OMIM:180100
5015	OTX2	HP:0000670	Carious teeth	-	OMIM:131300
5015	OTX2	HP:0011304	Broad thumb	2/7	OMIM:615777
5015	OTX2	HP:0000668	Hypodontia	-	OMIM:615777
5015	OTX2	HP:0001998	Neonatal hypoglycemia	2/2	OMIM:613986
5015	OTX2	HP:0000664	Synophrys	-	OMIM:615777
5015	OTX2	HP:0004322	Short stature	HP:0040282	ORPHA:3157
5015	OTX2	HP:0004322	Short stature	HP:0040283	OMIM:610125
5015	OTX2	HP:0004322	Short stature	2/2	OMIM:613986
5015	OTX2	HP:0005625	Osteoporosis of vertebrae	HP:0040283	ORPHA:95494
5015	OTX2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:3157
5015	OTX2	HP:0004396	Poor appetite	-	OMIM:131300
5015	OTX2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5015	OTX2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5015	OTX2	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:3157
5015	OTX2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5015	OTX2	HP:0003026	Short long bone	7/7	OMIM:615777
5015	OTX2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5015	OTX2	HP:0012731	Ectopic anterior pituitary gland	HP:0040284	ORPHA:95494
5015	OTX2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5015	OTX2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5015	OTX2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5015	OTX2	HP:0000750	Delayed speech and language development	-	OMIM:615777
5015	OTX2	HP:0000717	Autism	HP:0040283	ORPHA:3157
5015	OTX2	HP:0011463	Childhood onset	3/19	OMIM:180100
5015	OTX2	HP:0011462	Young adult onset	8/19	OMIM:180100
5015	OTX2	HP:0011461	Fetal onset	7/7	OMIM:615777
5015	OTX2	HP:0000774	Narrow chest	2/7	OMIM:615777
5015	OTX2	HP:0000789	Infertility	HP:0040282	ORPHA:95494
5015	OTX2	HP:0000926	Platyspondyly	1/7	OMIM:615777
5015	OTX2	HP:0003180	Flat acetabular roof	-	OMIM:615777
5015	OTX2	HP:0004482	Relative macrocephaly	-	OMIM:615777
5015	OTX2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5015	OTX2	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:3157
5015	OTX2	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040282	ORPHA:3157
5015	OTX2	HP:0000839	Pituitary dwarfism	HP:0040283	ORPHA:95494
5015	OTX2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:95494
5015	OTX2	HP:0000823	Delayed puberty	-	OMIM:131300
5015	OTX2	HP:0000823	Delayed puberty	HP:0040283	ORPHA:95494
5015	OTX2	HP:0040075	Hypopituitarism	HP:0040280	ORPHA:95494
5015	OTX2	HP:0040086	Abnormal prolactin level	HP:0040282	ORPHA:95494
5015	OTX2	HP:0000894	Short clavicles	-	OMIM:615777
5015	OTX2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5015	OTX2	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:95494
5015	OTX2	HP:0034323	Reduced circulating growth hormone concentration	2/2	OMIM:613986
5015	OTX2	HP:0000958	Dry skin	HP:0040283	ORPHA:3157
5015	OTX2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5015	OTX2	HP:0000966	Hypohidrosis	HP:0040283	ORPHA:3157
5015	OTX2	HP:0000938	Osteopenia	HP:0040282	ORPHA:95494
5015	OTX2	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:35612
5015	OTX2	HP:0000286	Epicanthus	1/7	OMIM:615777
5015	OTX2	HP:0000280	Coarse facial features	2/7	OMIM:615777
5015	OTX2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5015	OTX2	HP:0002827	Hip dislocation	3/7	OMIM:615777
5015	OTX2	HP:0000252	Microcephaly	-	OMIM:615777
5015	OTX2	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:990
5015	OTX2	HP:0002857	Genu valgum	-	OMIM:131300
5015	OTX2	HP:0001533	Slender build	-	OMIM:131300
5015	OTX2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5015	OTX2	HP:0001510	Growth delay	HP:0040282	ORPHA:95494
5015	OTX2	HP:0001513	Obesity	HP:0040283	ORPHA:3157
5015	OTX2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5015	OTX2	HP:0007807	Optic nerve compression	-	OMIM:131300
5015	OTX2	HP:0012378	Fatigue	HP:0040282	ORPHA:95494
5015	OTX2	HP:0012378	Fatigue	HP:0040283	ORPHA:3157
5015	OTX2	HP:0012368	Flat face	7/7	OMIM:615777
5015	OTX2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5015	OTX2	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:95494
5015	OTX2	HP:0002920	Decreased circulating ACTH concentration	2/2	OMIM:613986
5015	OTX2	HP:0002904	Hyperbilirubinemia	1/2	OMIM:613986
5015	OTX2	HP:0001696	Situs inversus totalis	HP:0040281	ORPHA:990
5015	OTX2	HP:0000365	Hearing impairment	10/67	OMIM:131300
5015	OTX2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:990
5015	OTX2	HP:0000343	Long philtrum	1/7	OMIM:615777
5015	OTX2	HP:0011001	Increased bone mineral density	-	OMIM:131300
5015	OTX2	HP:0000311	Round face	2/7	OMIM:615777
5015	OTX2	HP:0002970	Genu varum	-	OMIM:615777
5015	OTX2	HP:0000303	Mandibular prognathia	-	OMIM:131300
5015	OTX2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:3157
5015	OTX2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5015	OTX2	HP:0000486	Strabismus	HP:0040281	ORPHA:35612
5015	OTX2	HP:0000486	Strabismus	HP:0040282	ORPHA:3157
5015	OTX2	HP:0000482	Microcornea	-	OMIM:610125
5015	OTX2	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:990
5015	OTX2	HP:0000478	Abnormality of the eye	HP:0040284	ORPHA:95494
5015	OTX2	HP:0000458	Anosmia	HP:0040283	ORPHA:3157
5015	OTX2	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:95494
5015	OTX2	HP:0000470	Short neck	1/7	OMIM:615777
5015	OTX2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5015	OTX2	HP:0001763	Pes planus	1/7	OMIM:615777
5015	OTX2	HP:0011297	Abnormal digit morphology	HP:0040284	ORPHA:95494
5015	OTX2	HP:0000518	Cataract	-	OMIM:610125
5015	OTX2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5015	OTX2	HP:0001840	Metatarsus adductus	-	OMIM:615777
5015	OTX2	HP:0000528	Anophthalmia	-	OMIM:610125
5015	OTX2	HP:0000520	Proptosis	2/4	OMIM:131300
5015	OTX2	HP:0000520	Proptosis	7/7	OMIM:615777
5015	OTX2	HP:0000505	Visual impairment	HP:0040281	ORPHA:3157
5015	OTX2	HP:0000501	Glaucoma	HP:0040281	ORPHA:35612
5015	OTX2	HP:0030344	Decreased circulating luteinizing hormone level	1/2	OMIM:613986
5015	OTX2	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1/2	OMIM:613986
5015	OTX2	HP:0000575	Scotoma	5/18	OMIM:180100
5015	OTX2	HP:0000592	Blue sclerae	2/7	OMIM:615777
5015	OTX2	HP:0000589	Coloboma	-	OMIM:610125
5015	OTX2	HP:0000556	Retinal dystrophy	-	OMIM:610125
5015	OTX2	HP:0000568	Microphthalmia	HP:0040281	ORPHA:35612
5015	OTX2	HP:0000568	Microphthalmia	-	OMIM:610125
5015	OTX2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5015	OTX2	HP:0012514	Lower limb pain	4/4	OMIM:131300
5015	OTX2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5015	OTX2	HP:0000545	Myopia	-	OMIM:180100
5019	OXCT1	HP:0410175	Hyperketonemia	HP:0040282	ORPHA:832
5019	OXCT1	HP:0001254	Lethargy	HP:0040283	ORPHA:832
5019	OXCT1	HP:0001252	Hypotonia	HP:0040283	ORPHA:832
5019	OXCT1	HP:0001259	Coma	HP:0040283	ORPHA:832
5019	OXCT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:245050
5019	OXCT1	HP:0002789	Tachypnea	-	OMIM:245050
5019	OXCT1	HP:0002789	Tachypnea	HP:0040282	ORPHA:832
5019	OXCT1	HP:0002018	Nausea	HP:0040283	ORPHA:832
5019	OXCT1	HP:0002013	Vomiting	-	OMIM:245050
5019	OXCT1	HP:0002013	Vomiting	HP:0040282	ORPHA:832
5019	OXCT1	HP:0005974	Episodic ketoacidosis	-	OMIM:245050
5019	OXCT1	HP:6000361	Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts	1/1	OMIM:245050
5019	OXCT1	HP:6000361	Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts	HP:0040281	ORPHA:832
5019	OXCT1	HP:0003623	Neonatal onset	-	OMIM:245050
5019	OXCT1	HP:0001944	Dehydration	HP:0040283	ORPHA:832
5019	OXCT1	HP:0001993	Ketoacidosis	HP:0040281	ORPHA:832
5019	OXCT1	HP:0004325	Decreased body weight	HP:0040283	ORPHA:832
5019	OXCT1	HP:0040155	Elevated urinary 3-hydroxybutyric acid	-	OMIM:245050
5019	OXCT1	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:832
5019	OXCT1	HP:0002919	Ketonuria	-	OMIM:245050
5019	OXCT1	HP:0002919	Ketonuria	HP:0040282	ORPHA:832
5019	OXCT1	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:832
5032	P2RY11	HP:0002494	Abnormal rapid eye movement sleep	HP:0040282	ORPHA:2073
5032	P2RY11	HP:0025235	NREM parasomnia	HP:0040282	ORPHA:2073
5032	P2RY11	HP:0025233	Sleep paralysis	HP:0040283	ORPHA:2073
5032	P2RY11	HP:0001279	Syncope	HP:0040283	ORPHA:2073
5032	P2RY11	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:2073
5032	P2RY11	HP:0002519	Hypnagogic hallucination	HP:0040282	ORPHA:2073
5032	P2RY11	HP:0002524	Cataplexy	HP:0040281	ORPHA:2073
5032	P2RY11	HP:0001350	Slurred speech	HP:0040283	ORPHA:2073
5032	P2RY11	HP:0000017	Nocturia	HP:0040282	ORPHA:2073
5032	P2RY11	HP:0007686	Abnormal pupillary function	HP:0040282	ORPHA:2073
5032	P2RY11	HP:0002019	Constipation	HP:0040282	ORPHA:2073
5032	P2RY11	HP:0040307	Male sexual dysfunction	HP:0040282	ORPHA:2073
5032	P2RY11	HP:0002076	Migraine	HP:0040283	ORPHA:2073
5032	P2RY11	HP:0010535	Sleep apnea	HP:0040283	ORPHA:2073
5032	P2RY11	HP:0010534	Transient global amnesia	HP:0040281	ORPHA:2073
5032	P2RY11	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:2073
5032	P2RY11	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:2073
5032	P2RY11	HP:0002307	Drooling	HP:0040282	ORPHA:2073
5032	P2RY11	HP:0006896	Hypnopompic hallucination	HP:0040282	ORPHA:2073
5032	P2RY11	HP:0000738	Hallucinations	HP:0040281	ORPHA:2073
5032	P2RY11	HP:0000739	Anxiety	HP:0040282	ORPHA:2073
5032	P2RY11	HP:0000716	Depression	HP:0040283	ORPHA:2073
5032	P2RY11	HP:0000711	Restlessness	HP:0040283	ORPHA:2073
5032	P2RY11	HP:0000709	Psychosis	HP:0040284	ORPHA:2073
5032	P2RY11	HP:0000826	Precocious puberty	HP:0040283	ORPHA:2073
5032	P2RY11	HP:0000822	Hypertension	HP:0040282	ORPHA:2073
5032	P2RY11	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:2073
5032	P2RY11	HP:0030014	Female sexual dysfunction	HP:0040282	ORPHA:2073
5032	P2RY11	HP:0001513	Obesity	HP:0040283	ORPHA:2073
5032	P2RY11	HP:0012452	Restless legs	HP:0040282	ORPHA:2073
5033	P4HA1	HP:0001156	Brachydactyly	-	OMIM:143095
5033	P4HA1	HP:0009882	Short distal phalanx of finger	-	OMIM:143095
5033	P4HA1	HP:0008551	Microtia	-	OMIM:143095
5033	P4HA1	HP:0001256	Intellectual disability, mild	-	OMIM:259770
5033	P4HA1	HP:0001252	Hypotonia	-	OMIM:259770
5033	P4HA1	HP:0001249	Intellectual disability	0/9	OMIM:143095
5033	P4HA1	HP:0001249	Intellectual disability	3/20	OMIM:150250
5033	P4HA1	HP:0001263	Global developmental delay	1/1	OMIM:612394
5033	P4HA1	HP:0100864	Short femoral neck	-	OMIM:143095
5033	P4HA1	HP:0006067	Multiple carpal ossification centers	-	OMIM:143095
5033	P4HA1	HP:0006067	Multiple carpal ossification centers	-	OMIM:150250
5033	P4HA1	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:143095
5033	P4HA1	HP:0003883	Tapered humerus	3/16	OMIM:150250
5033	P4HA1	HP:0001222	Spatulate thumbs	17/18	OMIM:150250
5033	P4HA1	HP:0002515	Waddling gait	-	OMIM:143095
5033	P4HA1	HP:0003834	Shoulder dislocation	-	OMIM:143095
5033	P4HA1	HP:0001371	Flexion contracture	-	OMIM:143095
5033	P4HA1	HP:0001373	Joint dislocation	-	OMIM:143095
5033	P4HA1	HP:0001382	Joint hypermobility	-	OMIM:259770
5033	P4HA1	HP:0001382	Joint hypermobility	-	OMIM:150250
5033	P4HA1	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
5033	P4HA1	HP:0000028	Cryptorchidism	-	OMIM:150250
5033	P4HA1	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
5033	P4HA1	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
5033	P4HA1	HP:0003994	Dislocated wrist	-	OMIM:150250
5033	P4HA1	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
5033	P4HA1	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:143095
5033	P4HA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
5033	P4HA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:143095
5033	P4HA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
5033	P4HA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:150250
5033	P4HA1	HP:0002650	Scoliosis	1/5	OMIM:259770
5033	P4HA1	HP:0002650	Scoliosis	1/1	OMIM:612394
5033	P4HA1	HP:0002650	Scoliosis	9/9	OMIM:143095
5033	P4HA1	HP:0002650	Scoliosis	12/20	OMIM:150250
5033	P4HA1	HP:0008905	Rhizomelia	-	OMIM:143095
5033	P4HA1	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
5033	P4HA1	HP:0000175	Cleft palate	3/20	OMIM:150250
5033	P4HA1	HP:0007598	Bilateral single transverse palmar creases	-	OMIM:143095
5033	P4HA1	HP:0002780	Bronchomalacia	-	OMIM:150250
5033	P4HA1	HP:0002779	Tracheomalacia	-	OMIM:150250
5033	P4HA1	HP:0002777	Tracheal stenosis	-	OMIM:150250
5033	P4HA1	HP:0002757	Recurrent fractures	4/5	OMIM:259770
5033	P4HA1	HP:0002756	Pathologic fracture	-	OMIM:259770
5033	P4HA1	HP:0002756	Pathologic fracture	1/1	OMIM:612394
5033	P4HA1	HP:0002751	Kyphoscoliosis	-	OMIM:143095
5033	P4HA1	HP:0002751	Kyphoscoliosis	-	OMIM:259770
5033	P4HA1	HP:0002750	Delayed skeletal maturation	-	OMIM:143095
5033	P4HA1	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
5033	P4HA1	HP:0002007	Frontal bossing	-	OMIM:150250
5033	P4HA1	HP:0003304	Spondylolysis	-	OMIM:150250
5033	P4HA1	HP:0003301	Irregular vertebral endplates	-	OMIM:143095
5033	P4HA1	HP:0011800	Midface retrusion	19/20	OMIM:150250
5033	P4HA1	HP:0002092	Pulmonary arterial hypertension	-	OMIM:143095
5033	P4HA1	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
5033	P4HA1	HP:0010446	Tricuspid stenosis	-	OMIM:143095
5033	P4HA1	HP:0008127	Bipartite calcaneus	-	OMIM:150250
5033	P4HA1	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
5033	P4HA1	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
5033	P4HA1	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
5033	P4HA1	HP:0003417	Coronal cleft vertebrae	-	OMIM:143095
5033	P4HA1	HP:0002194	Delayed gross motor development	-	OMIM:143095
5033	P4HA1	HP:0002164	Nail dysplasia	1/1	OMIM:612394
5033	P4HA1	HP:0002176	Spinal cord compression	-	OMIM:150250
5033	P4HA1	HP:0100490	Camptodactyly of finger	-	OMIM:143095
5033	P4HA1	HP:0010557	Overlapping fingers	1/2	OMIM:612394
5033	P4HA1	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
5033	P4HA1	HP:0010585	Small epiphyses	9/9	OMIM:143095
5033	P4HA1	HP:0003593	Infantile onset	1/5	OMIM:259770
5033	P4HA1	HP:0003593	Infantile onset	9/9	OMIM:143095
5033	P4HA1	HP:0003577	Congenital onset	4/5	OMIM:259770
5033	P4HA1	HP:0003577	Congenital onset	6/6	OMIM:143095
5033	P4HA1	HP:0002208	Coarse hair	1/1	OMIM:612394
5033	P4HA1	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
5033	P4HA1	HP:0025019	Arterial rupture	1/1	OMIM:612394
5033	P4HA1	HP:0004976	Knee dislocation	16/20	OMIM:150250
5033	P4HA1	HP:0004976	Knee dislocation	6/6	OMIM:143095
5033	P4HA1	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
5033	P4HA1	HP:0009803	Short phalanx of finger	-	OMIM:143095
5033	P4HA1	HP:0001089	Iris atrophy	-	OMIM:259770
5033	P4HA1	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:143095
5033	P4HA1	HP:0010743	Short metatarsal	-	OMIM:150250
5033	P4HA1	HP:0008434	Hypoplastic cervical vertebrae	-	OMIM:150250
5033	P4HA1	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
5033	P4HA1	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
5033	P4HA1	HP:0004942	Aortic aneurysm	-	OMIM:150250
5033	P4HA1	HP:0004232	Accessory carpal bones	-	OMIM:150250
5033	P4HA1	HP:0000618	Blindness	5/5	OMIM:259770
5033	P4HA1	HP:0010049	Short metacarpal	-	OMIM:143095
5033	P4HA1	HP:0010049	Short metacarpal	-	OMIM:150250
5033	P4HA1	HP:0000684	Delayed eruption of teeth	-	OMIM:143095
5033	P4HA1	HP:0000691	Microdontia	-	OMIM:143095
5033	P4HA1	HP:0000687	Widely spaced teeth	-	OMIM:143095
5033	P4HA1	HP:0000668	Hypodontia	-	OMIM:150250
5033	P4HA1	HP:0000667	Phthisis bulbi	-	OMIM:259770
5033	P4HA1	HP:0004322	Short stature	-	OMIM:259770
5033	P4HA1	HP:0004322	Short stature	15/15	OMIM:143095
5033	P4HA1	HP:0004322	Short stature	14/20	OMIM:150250
5033	P4HA1	HP:0003071	Flattened epiphysis	-	OMIM:143095
5033	P4HA1	HP:0003083	Dislocated radial head	6/6	OMIM:143095
5033	P4HA1	HP:0003031	Ulnar bowing	-	OMIM:143095
5033	P4HA1	HP:0003042	Elbow dislocation	-	OMIM:143095
5033	P4HA1	HP:0003042	Elbow dislocation	13/20	OMIM:150250
5033	P4HA1	HP:0003040	Arthropathy	-	OMIM:143095
5033	P4HA1	HP:0003016	Metaphyseal widening	-	OMIM:259770
5033	P4HA1	HP:0003022	Hypoplasia of the ulna	-	OMIM:143095
5033	P4HA1	HP:0000767	Pectus excavatum	-	OMIM:150250
5033	P4HA1	HP:0000768	Pectus carinatum	-	OMIM:150250
5033	P4HA1	HP:0009179	Deviation of the 5th finger	-	OMIM:143095
5033	P4HA1	HP:0011461	Fetal onset	2/2	OMIM:612394
5033	P4HA1	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
5033	P4HA1	HP:0003196	Short nose	1/1	OMIM:612394
5033	P4HA1	HP:0000914	Shield chest	-	OMIM:143095
5033	P4HA1	HP:0000926	Platyspondyly	-	OMIM:259770
5033	P4HA1	HP:0000926	Platyspondyly	1/1	OMIM:612394
5033	P4HA1	HP:0003184	Decreased hip abduction	-	OMIM:143095
5033	P4HA1	HP:0003093	Limited hip extension	9/9	OMIM:143095
5033	P4HA1	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
5033	P4HA1	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:143095
5033	P4HA1	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
5033	P4HA1	HP:0004568	Beaking of vertebral bodies	-	OMIM:150250
5033	P4HA1	HP:0003298	Spina bifida occulta	-	OMIM:150250
5033	P4HA1	HP:0045075	Sparse eyebrow	-	OMIM:143095
5033	P4HA1	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
5033	P4HA1	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
5033	P4HA1	HP:0000939	Osteoporosis	4/5	OMIM:259770
5033	P4HA1	HP:0000938	Osteopenia	1/5	OMIM:259770
5033	P4HA1	HP:0000938	Osteopenia	1/1	OMIM:612394
5033	P4HA1	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
5033	P4HA1	HP:6000970	Diminished sulfotransferase activity in cultured fibroblasts	2/2	OMIM:143095
5033	P4HA1	HP:0000272	Malar flattening	-	OMIM:150250
5033	P4HA1	HP:0000272	Malar flattening	1/1	OMIM:612394
5033	P4HA1	HP:0006471	Fixed elbow flexion	-	OMIM:143095
5033	P4HA1	HP:0006462	Generalized bone demineralization	-	OMIM:143095
5033	P4HA1	HP:0007773	Vitreoretinopathy	-	OMIM:259770
5033	P4HA1	HP:0002816	Genu recurvatum	3/6	OMIM:143095
5033	P4HA1	HP:0002829	Arthralgia	-	OMIM:143095
5033	P4HA1	HP:0002827	Hip dislocation	16/20	OMIM:150250
5033	P4HA1	HP:0002808	Kyphosis	-	OMIM:143095
5033	P4HA1	HP:0002808	Kyphosis	1/5	OMIM:259770
5033	P4HA1	HP:0000252	Microcephaly	-	OMIM:259770
5033	P4HA1	HP:0001552	Barrel-shaped chest	-	OMIM:143095
5033	P4HA1	HP:0001552	Barrel-shaped chest	-	OMIM:259770
5033	P4HA1	HP:0000218	High palate	-	OMIM:143095
5033	P4HA1	HP:0002857	Genu valgum	-	OMIM:143095
5033	P4HA1	HP:0000204	Cleft upper lip	-	OMIM:150250
5033	P4HA1	HP:0001511	Intrauterine growth retardation	-	OMIM:150250
5033	P4HA1	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
5033	P4HA1	HP:0012368	Flat face	1/1	OMIM:612394
5033	P4HA1	HP:0012368	Flat face	-	OMIM:150250
5033	P4HA1	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
5033	P4HA1	HP:0007875	Congenital blindness	4/5	OMIM:259770
5033	P4HA1	HP:0007862	Retinal calcification	1/5	OMIM:259770
5033	P4HA1	HP:0002938	Lumbar hyperlordosis	-	OMIM:143095
5033	P4HA1	HP:0002948	Vertebral fusion	8/16	OMIM:150250
5033	P4HA1	HP:0002947	Cervical kyphosis	-	OMIM:150250
5033	P4HA1	HP:0002945	Intervertebral space narrowing	9/9	OMIM:143095
5033	P4HA1	HP:0005180	Tricuspid regurgitation	-	OMIM:143095
5033	P4HA1	HP:0000365	Hearing impairment	-	OMIM:143095
5033	P4HA1	HP:0000365	Hearing impairment	4/19	OMIM:150250
5033	P4HA1	HP:0000369	Low-set ears	2/2	OMIM:612394
5033	P4HA1	HP:0000343	Long philtrum	HP:0040282	OMIM:143095
5033	P4HA1	HP:0000337	Broad forehead	HP:0040282	OMIM:143095
5033	P4HA1	HP:0002982	Tibial bowing	1/5	OMIM:259770
5033	P4HA1	HP:0002982	Tibial bowing	-	OMIM:143095
5033	P4HA1	HP:0001650	Aortic valve stenosis	-	OMIM:143095
5033	P4HA1	HP:0000316	Hypertelorism	-	OMIM:143095
5033	P4HA1	HP:0000316	Hypertelorism	-	OMIM:150250
5033	P4HA1	HP:0001642	Pulmonic stenosis	-	OMIM:143095
5033	P4HA1	HP:0001659	Aortic regurgitation	-	OMIM:143095
5033	P4HA1	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
5033	P4HA1	HP:0001653	Mitral regurgitation	-	OMIM:143095
5033	P4HA1	HP:0001629	Ventricular septal defect	-	OMIM:143095
5033	P4HA1	HP:0001629	Ventricular septal defect	-	OMIM:259770
5033	P4HA1	HP:0001629	Ventricular septal defect	-	OMIM:150250
5033	P4HA1	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
5033	P4HA1	HP:0001623	Breech presentation	3/6	OMIM:143095
5033	P4HA1	HP:0000307	Pointed chin	1/2	OMIM:612394
5033	P4HA1	HP:0002967	Cubitus valgus	-	OMIM:143095
5033	P4HA1	HP:0001631	Atrial septal defect	-	OMIM:150250
5033	P4HA1	HP:0007957	Corneal opacity	-	OMIM:150250
5033	P4HA1	HP:0006610	Wide intermamillary distance	-	OMIM:143095
5033	P4HA1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
5033	P4HA1	HP:0000405	Conductive hearing impairment	-	OMIM:150250
5033	P4HA1	HP:0001718	Mitral stenosis	-	OMIM:143095
5033	P4HA1	HP:0001714	Ventricular hypertrophy	-	OMIM:143095
5033	P4HA1	HP:0005280	Depressed nasal bridge	-	OMIM:150250
5033	P4HA1	HP:0000463	Anteverted nares	1/1	OMIM:612394
5033	P4HA1	HP:0000470	Short neck	-	OMIM:143095
5033	P4HA1	HP:0001799	Short nail	-	OMIM:150250
5033	P4HA1	HP:0001772	Talipes equinovalgus	-	OMIM:150250
5033	P4HA1	HP:0001763	Pes planus	-	OMIM:143095
5033	P4HA1	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
5033	P4HA1	HP:0001762	Talipes equinovarus	6/6	OMIM:143095
5033	P4HA1	HP:0001762	Talipes equinovarus	15/20	OMIM:150250
5033	P4HA1	HP:0000518	Cataract	1/5	OMIM:259770
5033	P4HA1	HP:0000518	Cataract	1/1	OMIM:612394
5033	P4HA1	HP:0000586	Shallow orbits	-	OMIM:150250
5033	P4HA1	HP:0000586	Shallow orbits	1/1	OMIM:612394
5033	P4HA1	HP:0011220	Prominent forehead	-	OMIM:150250
5033	P4HA1	HP:0000568	Microphthalmia	1/5	OMIM:259770
5033	P4HA1	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
5033	P4HA1	HP:0000545	Myopia	1/1	OMIM:612394
5034	P4HB	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5034	P4HB	HP:0001293	Cranial nerve compression	-	OMIM:131300
5034	P4HB	HP:0001256	Intellectual disability, mild	-	OMIM:259770
5034	P4HB	HP:0001252	Hypotonia	HP:0040282	ORPHA:2050
5034	P4HB	HP:0001252	Hypotonia	-	OMIM:259770
5034	P4HB	HP:0001252	Hypotonia	2/7	OMIM:615777
5034	P4HB	HP:0001249	Intellectual disability	5/7	OMIM:615777
5034	P4HB	HP:0001263	Global developmental delay	0/2	OMIM:112240
5034	P4HB	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2050
5034	P4HB	HP:0001263	Global developmental delay	1/1	OMIM:612394
5034	P4HB	HP:0001263	Global developmental delay	-	OMIM:615777
5034	P4HB	HP:0002515	Waddling gait	54/102	OMIM:131300
5034	P4HB	HP:0001382	Joint hypermobility	-	OMIM:259770
5034	P4HB	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:2050
5034	P4HB	HP:0001382	Joint hypermobility	-	OMIM:615777
5034	P4HB	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
5034	P4HB	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5034	P4HB	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5034	P4HB	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
5034	P4HB	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
5034	P4HB	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
5034	P4HB	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5034	P4HB	HP:0001324	Muscle weakness	40/96	OMIM:131300
5034	P4HB	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5034	P4HB	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
5034	P4HB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5034	P4HB	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
5034	P4HB	HP:0001334	Communicating hydrocephalus	2/2	OMIM:112240
5034	P4HB	HP:0001334	Communicating hydrocephalus	HP:0040282	ORPHA:2050
5034	P4HB	HP:0000006	Autosomal dominant inheritance	-	OMIM:112240
5034	P4HB	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5034	P4HB	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:2050
5034	P4HB	HP:0002650	Scoliosis	2/2	OMIM:112240
5034	P4HB	HP:0002650	Scoliosis	1/5	OMIM:259770
5034	P4HB	HP:0002650	Scoliosis	1/1	OMIM:612394
5034	P4HB	HP:0002650	Scoliosis	HP:0040282	ORPHA:2050
5034	P4HB	HP:0002650	Scoliosis	12/14	OMIM:131300
5034	P4HB	HP:0002645	Wormian bones	1/2	OMIM:112240
5034	P4HB	HP:0002645	Wormian bones	HP:0040282	ORPHA:2050
5034	P4HB	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5034	P4HB	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5034	P4HB	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5034	P4HB	HP:6000871	Popcorn calcification	2/2	OMIM:112240
5034	P4HB	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5034	P4HB	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
5034	P4HB	HP:0000175	Cleft palate	2/7	OMIM:615777
5034	P4HB	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:2050
5034	P4HB	HP:0002757	Recurrent fractures	4/5	OMIM:259770
5034	P4HB	HP:0002757	Recurrent fractures	2/2	OMIM:112240
5034	P4HB	HP:0002756	Pathologic fracture	-	OMIM:259770
5034	P4HB	HP:0002756	Pathologic fracture	1/1	OMIM:612394
5034	P4HB	HP:0002751	Kyphoscoliosis	-	OMIM:259770
5034	P4HB	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
5034	P4HB	HP:0002007	Frontal bossing	1/2	OMIM:112240
5034	P4HB	HP:0002007	Frontal bossing	HP:0040281	ORPHA:2050
5034	P4HB	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:2050
5034	P4HB	HP:0011800	Midface retrusion	2/2	OMIM:112240
5034	P4HB	HP:0011800	Midface retrusion	HP:0040281	ORPHA:2050
5034	P4HB	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
5034	P4HB	HP:0003388	Easy fatigability	36/76	OMIM:131300
5034	P4HB	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5034	P4HB	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
5034	P4HB	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
5034	P4HB	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
5034	P4HB	HP:0002164	Nail dysplasia	1/1	OMIM:612394
5034	P4HB	HP:0010557	Overlapping fingers	1/2	OMIM:612394
5034	P4HB	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
5034	P4HB	HP:0003593	Infantile onset	2/2	OMIM:112240
5034	P4HB	HP:0003593	Infantile onset	1/5	OMIM:259770
5034	P4HB	HP:0003577	Congenital onset	4/5	OMIM:259770
5034	P4HB	HP:0002208	Coarse hair	1/1	OMIM:612394
5034	P4HB	HP:0003510	Severe short stature	7/7	OMIM:615777
5034	P4HB	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
5034	P4HB	HP:0025019	Arterial rupture	1/1	OMIM:612394
5034	P4HB	HP:0002315	Headache	-	OMIM:131300
5034	P4HB	HP:0004976	Knee dislocation	6/7	OMIM:615777
5034	P4HB	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
5034	P4HB	HP:0009803	Short phalanx of finger	-	OMIM:615777
5034	P4HB	HP:0001089	Iris atrophy	-	OMIM:259770
5034	P4HB	HP:0009763	Limb pain	63/92	OMIM:131300
5034	P4HB	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
5034	P4HB	HP:0003621	Juvenile onset	-	OMIM:131300
5034	P4HB	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
5034	P4HB	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5034	P4HB	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5034	P4HB	HP:6001056	Out-toeing	-	OMIM:131300
5034	P4HB	HP:0000651	Diplopia	-	OMIM:131300
5034	P4HB	HP:0000618	Blindness	5/5	OMIM:259770
5034	P4HB	HP:0001956	Truncal obesity	2/7	OMIM:615777
5034	P4HB	HP:0001903	Anemia	HP:0040283	OMIM:131300
5034	P4HB	HP:0010049	Short metacarpal	-	OMIM:615777
5034	P4HB	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:2050
5034	P4HB	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:2050
5034	P4HB	HP:0000678	Dental crowding	-	OMIM:615777
5034	P4HB	HP:0000691	Microdontia	-	OMIM:112240
5034	P4HB	HP:0000670	Carious teeth	-	OMIM:131300
5034	P4HB	HP:0011304	Broad thumb	2/7	OMIM:615777
5034	P4HB	HP:0000668	Hypodontia	-	OMIM:615777
5034	P4HB	HP:0000667	Phthisis bulbi	-	OMIM:259770
5034	P4HB	HP:0000664	Synophrys	-	OMIM:615777
5034	P4HB	HP:0004322	Short stature	2/2	OMIM:112240
5034	P4HB	HP:0004322	Short stature	HP:0040281	ORPHA:2050
5034	P4HB	HP:0004322	Short stature	-	OMIM:259770
5034	P4HB	HP:0004396	Poor appetite	-	OMIM:131300
5034	P4HB	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5034	P4HB	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5034	P4HB	HP:0003016	Metaphyseal widening	-	OMIM:259770
5034	P4HB	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5034	P4HB	HP:0003026	Short long bone	7/7	OMIM:615777
5034	P4HB	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5034	P4HB	HP:0004349	Reduced bone mineral density	2/2	OMIM:112240
5034	P4HB	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:2050
5034	P4HB	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5034	P4HB	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5034	P4HB	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5034	P4HB	HP:0000750	Delayed speech and language development	-	OMIM:615777
5034	P4HB	HP:0000703	Dentinogenesis imperfecta	1/2	OMIM:112240
5034	P4HB	HP:0011461	Fetal onset	7/7	OMIM:615777
5034	P4HB	HP:0011461	Fetal onset	2/2	OMIM:612394
5034	P4HB	HP:0000774	Narrow chest	2/7	OMIM:615777
5034	P4HB	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
5034	P4HB	HP:0004440	Coronal craniosynostosis	2/2	OMIM:112240
5034	P4HB	HP:0003196	Short nose	1/1	OMIM:612394
5034	P4HB	HP:0000926	Platyspondyly	-	OMIM:259770
5034	P4HB	HP:0000926	Platyspondyly	1/7	OMIM:615777
5034	P4HB	HP:0000926	Platyspondyly	1/1	OMIM:612394
5034	P4HB	HP:0003180	Flat acetabular roof	-	OMIM:615777
5034	P4HB	HP:0004482	Relative macrocephaly	-	OMIM:615777
5034	P4HB	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5034	P4HB	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
5034	P4HB	HP:0000823	Delayed puberty	-	OMIM:131300
5034	P4HB	HP:0000894	Short clavicles	-	OMIM:615777
5034	P4HB	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
5034	P4HB	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5034	P4HB	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
5034	P4HB	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
5034	P4HB	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5034	P4HB	HP:0000939	Osteoporosis	4/5	OMIM:259770
5034	P4HB	HP:0000938	Osteopenia	2/2	OMIM:112240
5034	P4HB	HP:0000938	Osteopenia	1/5	OMIM:259770
5034	P4HB	HP:0000938	Osteopenia	1/1	OMIM:612394
5034	P4HB	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2050
5034	P4HB	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
5034	P4HB	HP:0000286	Epicanthus	1/7	OMIM:615777
5034	P4HB	HP:0000280	Coarse facial features	2/7	OMIM:615777
5034	P4HB	HP:0000262	Turricephaly	HP:0040282	ORPHA:2050
5034	P4HB	HP:0000272	Malar flattening	1/1	OMIM:612394
5034	P4HB	HP:0007773	Vitreoretinopathy	-	OMIM:259770
5034	P4HB	HP:0002827	Hip dislocation	3/7	OMIM:615777
5034	P4HB	HP:0002808	Kyphosis	1/5	OMIM:259770
5034	P4HB	HP:0002808	Kyphosis	HP:0040282	ORPHA:2050
5034	P4HB	HP:0006367	Crumpled long bones	HP:0040281	ORPHA:2050
5034	P4HB	HP:0000238	Hydrocephalus	-	OMIM:112240
5034	P4HB	HP:0000252	Microcephaly	-	OMIM:259770
5034	P4HB	HP:0000252	Microcephaly	-	OMIM:615777
5034	P4HB	HP:0001552	Barrel-shaped chest	-	OMIM:259770
5034	P4HB	HP:0002857	Genu valgum	-	OMIM:131300
5034	P4HB	HP:0001533	Slender build	-	OMIM:131300
5034	P4HB	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2050
5034	P4HB	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5034	P4HB	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
5034	P4HB	HP:0007807	Optic nerve compression	-	OMIM:131300
5034	P4HB	HP:0012368	Flat face	7/7	OMIM:615777
5034	P4HB	HP:0012368	Flat face	1/1	OMIM:612394
5034	P4HB	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
5034	P4HB	HP:0007875	Congenital blindness	4/5	OMIM:259770
5034	P4HB	HP:0007862	Retinal calcification	1/5	OMIM:259770
5034	P4HB	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:2050
5034	P4HB	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5034	P4HB	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:2050
5034	P4HB	HP:0000365	Hearing impairment	10/67	OMIM:131300
5034	P4HB	HP:0000369	Low-set ears	2/2	OMIM:612394
5034	P4HB	HP:0000343	Long philtrum	1/7	OMIM:615777
5034	P4HB	HP:0011001	Increased bone mineral density	-	OMIM:131300
5034	P4HB	HP:0000347	Micrognathia	1/2	OMIM:112240
5034	P4HB	HP:0000347	Micrognathia	HP:0040281	ORPHA:2050
5034	P4HB	HP:0002982	Tibial bowing	1/5	OMIM:259770
5034	P4HB	HP:0000311	Round face	2/7	OMIM:615777
5034	P4HB	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
5034	P4HB	HP:0001629	Ventricular septal defect	-	OMIM:259770
5034	P4HB	HP:0002953	Vertebral compression fracture	2/2	OMIM:112240
5034	P4HB	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
5034	P4HB	HP:0001620	Abnormally high-pitched voice	-	OMIM:112240
5034	P4HB	HP:0002970	Genu varum	-	OMIM:615777
5034	P4HB	HP:0000307	Pointed chin	1/2	OMIM:612394
5034	P4HB	HP:0000303	Mandibular prognathia	-	OMIM:131300
5034	P4HB	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
5034	P4HB	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5034	P4HB	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:2050
5034	P4HB	HP:0000463	Anteverted nares	1/1	OMIM:612394
5034	P4HB	HP:0000470	Short neck	1/7	OMIM:615777
5034	P4HB	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5034	P4HB	HP:0001763	Pes planus	1/7	OMIM:615777
5034	P4HB	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
5034	P4HB	HP:0005472	Orbital craniosynostosis	-	OMIM:112240
5034	P4HB	HP:0000518	Cataract	1/5	OMIM:259770
5034	P4HB	HP:0000518	Cataract	1/1	OMIM:612394
5034	P4HB	HP:0001840	Metatarsus adductus	-	OMIM:615777
5034	P4HB	HP:0000520	Proptosis	HP:0040281	ORPHA:2050
5034	P4HB	HP:0000520	Proptosis	2/4	OMIM:131300
5034	P4HB	HP:0000520	Proptosis	2/2	OMIM:112240
5034	P4HB	HP:0000520	Proptosis	7/7	OMIM:615777
5034	P4HB	HP:0000592	Blue sclerae	HP:0040281	ORPHA:2050
5034	P4HB	HP:0000592	Blue sclerae	2/7	OMIM:615777
5034	P4HB	HP:0000586	Shallow orbits	-	OMIM:112240
5034	P4HB	HP:0000586	Shallow orbits	1/1	OMIM:612394
5034	P4HB	HP:0000568	Microphthalmia	1/5	OMIM:259770
5034	P4HB	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5034	P4HB	HP:0012514	Lower limb pain	4/4	OMIM:131300
5034	P4HB	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
5034	P4HB	HP:0000545	Myopia	1/1	OMIM:612394
5048	PAFAH1B1	HP:0002478	Progressive spastic quadriplegia	HP:0040284	ORPHA:95232
5048	PAFAH1B1	HP:0002463	Language impairment	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0002445	Tetraplegia	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0007270	Atypical absence seizure	HP:0040283	ORPHA:95232
5048	PAFAH1B1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0010850	EEG with spike-wave complexes	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0002421	Poor head control	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0003745	Sporadic	-	OMIM:607432
5048	PAFAH1B1	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0001285	Spastic tetraparesis	-	OMIM:607432
5048	PAFAH1B1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:95232
5048	PAFAH1B1	HP:0001250	Seizure	HP:0040281	ORPHA:531
5048	PAFAH1B1	HP:0001250	Seizure	HP:0040281	ORPHA:95232
5048	PAFAH1B1	HP:0001250	Seizure	-	OMIM:607432
5048	PAFAH1B1	HP:0001252	Hypotonia	HP:0040281	ORPHA:217385
5048	PAFAH1B1	HP:0001251	Ataxia	HP:0040283	ORPHA:531
5048	PAFAH1B1	HP:0001249	Intellectual disability	-	OMIM:607432
5048	PAFAH1B1	HP:0001263	Global developmental delay	-	OMIM:607432
5048	PAFAH1B1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:217385
5048	PAFAH1B1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:217385
5048	PAFAH1B1	HP:0032398	Dysgyria	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:95232
5048	PAFAH1B1	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:607432
5048	PAFAH1B1	HP:0000098	Tall stature	HP:0040283	ORPHA:217385
5048	PAFAH1B1	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:217385
5048	PAFAH1B1	HP:0025336	Delayed ability to sit	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:217385
5048	PAFAH1B1	HP:0032409	Subcortical band heterotopia	-	OMIM:607432
5048	PAFAH1B1	HP:0001339	Lissencephaly	-	OMIM:607432
5048	PAFAH1B1	HP:0001339	Lissencephaly	HP:0040281	ORPHA:531
5048	PAFAH1B1	HP:0000006	Autosomal dominant inheritance	-	OMIM:607432
5048	PAFAH1B1	HP:0001302	Pachygyria	-	OMIM:607432
5048	PAFAH1B1	HP:0001302	Pachygyria	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040284	ORPHA:95232
5048	PAFAH1B1	HP:0002650	Scoliosis	HP:0040284	ORPHA:95232
5048	PAFAH1B1	HP:0001321	Cerebellar hypoplasia	-	OMIM:607432
5048	PAFAH1B1	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:95232
5048	PAFAH1B1	HP:0000160	Narrow mouth	HP:0040281	ORPHA:217385
5048	PAFAH1B1	HP:0000177	Abnormal upper lip morphology	HP:0040281	ORPHA:531
5048	PAFAH1B1	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0008936	Axial hypotonia	-	OMIM:607432
5048	PAFAH1B1	HP:0000112	Nephropathy	HP:0040283	ORPHA:531
5048	PAFAH1B1	HP:0002007	Frontal bossing	HP:0040281	ORPHA:217385
5048	PAFAH1B1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:217385
5048	PAFAH1B1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:531
5048	PAFAH1B1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:95232
5048	PAFAH1B1	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:531
5048	PAFAH1B1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:217385
5048	PAFAH1B1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0002119	Ventriculomegaly	-	OMIM:607432
5048	PAFAH1B1	HP:0002187	Intellectual disability, profound	HP:0040283	ORPHA:95232
5048	PAFAH1B1	HP:0002179	Opisthotonus	HP:0040283	ORPHA:95232
5048	PAFAH1B1	HP:0003577	Congenital onset	-	OMIM:607432
5048	PAFAH1B1	HP:0200134	Epileptic encephalopathy	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0002282	Gray matter heterotopia	-	OMIM:607432
5048	PAFAH1B1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:95232
5048	PAFAH1B1	HP:0002389	Cavum septum pellucidum	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:95232
5048	PAFAH1B1	HP:0002365	Hypoplasia of the brainstem	-	OMIM:607432
5048	PAFAH1B1	HP:0002376	Developmental regression	HP:0040283	ORPHA:95232
5048	PAFAH1B1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:531
5048	PAFAH1B1	HP:0010819	Atonic seizure	HP:0040283	ORPHA:95232
5048	PAFAH1B1	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:95232
5048	PAFAH1B1	HP:0020191	Anterior predominant thick cortex pachygyria	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0020189	Posterior predominant thick cortex pachygyria	HP:0040283	ORPHA:95232
5048	PAFAH1B1	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:217385
5048	PAFAH1B1	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:531
5048	PAFAH1B1	HP:0031882	Agyria	-	OMIM:607432
5048	PAFAH1B1	HP:0031882	Agyria	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0006891	Thick cerebral cortex	HP:0040281	ORPHA:95232
5048	PAFAH1B1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0003196	Short nose	HP:0040281	ORPHA:217385
5048	PAFAH1B1	HP:0003196	Short nose	HP:0040281	ORPHA:531
5048	PAFAH1B1	HP:0003265	Neonatal hyperbilirubinemia	HP:0040283	ORPHA:95232
5048	PAFAH1B1	HP:0000960	Sacral dimple	HP:0040283	ORPHA:531
5048	PAFAH1B1	HP:0000286	Epicanthus	HP:0040281	ORPHA:531
5048	PAFAH1B1	HP:0007772	Impaired smooth pursuit	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0000218	High palate	HP:0040283	ORPHA:217385
5048	PAFAH1B1	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:95232
5048	PAFAH1B1	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:531
5048	PAFAH1B1	HP:0001539	Omphalocele	HP:0040283	ORPHA:531
5048	PAFAH1B1	HP:0001510	Growth delay	HP:0040281	ORPHA:531
5048	PAFAH1B1	HP:0000369	Low-set ears	HP:0040282	ORPHA:217385
5048	PAFAH1B1	HP:0000348	High forehead	HP:0040281	ORPHA:217385
5048	PAFAH1B1	HP:0000348	High forehead	HP:0040281	ORPHA:531
5048	PAFAH1B1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:217385
5048	PAFAH1B1	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:531
5048	PAFAH1B1	HP:0011153	Focal motor seizure	HP:0040283	ORPHA:95232
5048	PAFAH1B1	HP:0012469	Infantile spasms	HP:0040281	ORPHA:95232
5048	PAFAH1B1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:217385
5048	PAFAH1B1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:531
5048	PAFAH1B1	HP:0000470	Short neck	HP:0040282	ORPHA:217385
5048	PAFAH1B1	HP:0000445	Wide nose	HP:0040281	ORPHA:217385
5048	PAFAH1B1	HP:0005484	Secondary microcephaly	-	OMIM:607432
5048	PAFAH1B1	HP:0011201	EEG with changes in voltage	HP:0040283	ORPHA:95232
5048	PAFAH1B1	HP:0012520	Dilation of Virchow-Robin spaces	HP:0040282	ORPHA:95232
5048	PAFAH1B1	HP:0012520	Dilation of Virchow-Robin spaces	-	OMIM:607432
5052	PRDX1	HP:0001290	Generalized hypotonia	-	OMIM:277400
5052	PRDX1	HP:0001289	Confusion	-	OMIM:277400
5052	PRDX1	HP:0001254	Lethargy	-	OMIM:277400
5052	PRDX1	HP:0001250	Seizure	-	OMIM:277400
5052	PRDX1	HP:0001252	Hypotonia	-	OMIM:277400
5052	PRDX1	HP:0001249	Intellectual disability	-	OMIM:277400
5052	PRDX1	HP:0001263	Global developmental delay	-	OMIM:277400
5052	PRDX1	HP:0000083	Renal insufficiency	-	OMIM:277400
5052	PRDX1	HP:0000093	Proteinuria	-	OMIM:277400
5052	PRDX1	HP:0008872	Feeding difficulties in infancy	-	OMIM:277400
5052	PRDX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:277400
5052	PRDX1	HP:0001337	Tremor	-	OMIM:277400
5052	PRDX1	HP:0002615	Hypotension	1/3	OMIM:277400
5052	PRDX1	HP:0012120	Methylmalonic aciduria	-	OMIM:277400
5052	PRDX1	HP:0007663	Reduced visual acuity	-	OMIM:277400
5052	PRDX1	HP:0008936	Axial hypotonia	1/3	OMIM:277400
5052	PRDX1	HP:0000112	Nephropathy	-	OMIM:277400
5052	PRDX1	HP:0031258	Delirium	-	OMIM:277400
5052	PRDX1	HP:0002013	Vomiting	1/3	OMIM:277400
5052	PRDX1	HP:0002092	Pulmonary arterial hypertension	1/3	OMIM:277400
5052	PRDX1	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:277400
5052	PRDX1	HP:0002156	Homocystinuria	-	OMIM:277400
5052	PRDX1	HP:0002120	Cerebral cortical atrophy	-	OMIM:277400
5052	PRDX1	HP:0002160	Hyperhomocystinemia	2/3	OMIM:277400
5052	PRDX1	HP:0003596	Middle age onset	1/3	OMIM:277400
5052	PRDX1	HP:0003593	Infantile onset	133/175	OMIM:277400
5052	PRDX1	HP:0002240	Hepatomegaly	1/3	OMIM:277400
5052	PRDX1	HP:0003524	Decreased methionine synthase activity	3/3	OMIM:277400
5052	PRDX1	HP:0003658	Hypomethioninemia	1/3	OMIM:277400
5052	PRDX1	HP:0003623	Neonatal onset	1/3	OMIM:277400
5052	PRDX1	HP:0003621	Juvenile onset	25/176	OMIM:277400
5052	PRDX1	HP:0005575	Hemolytic-uremic syndrome	-	OMIM:277400
5052	PRDX1	HP:0000639	Nystagmus	-	OMIM:277400
5052	PRDX1	HP:0001942	Metabolic acidosis	-	OMIM:277400
5052	PRDX1	HP:0001907	Thromboembolism	-	OMIM:277400
5052	PRDX1	HP:0001919	Acute kidney injury	1/3	OMIM:277400
5052	PRDX1	HP:0000726	Dementia	-	OMIM:277400
5052	PRDX1	HP:0011463	Childhood onset	11/172	OMIM:277400
5052	PRDX1	HP:0011462	Young adult onset	4/172	OMIM:277400
5052	PRDX1	HP:0000790	Hematuria	-	OMIM:277400
5052	PRDX1	HP:0040126	Abnormal circulating vitamin B12 concentration	0/3	OMIM:277400
5052	PRDX1	HP:0003153	Cystathioninuria	-	OMIM:277400
5052	PRDX1	HP:0003145	Decreased circulating adenosylcobalamin concentration	-	OMIM:277400
5052	PRDX1	HP:0003210	Decreased methylmalonyl-CoA mutase activity	3/3	OMIM:277400
5052	PRDX1	HP:0003223	Decreased circulating methylcobalamin concentration	-	OMIM:277400
5052	PRDX1	HP:0003286	Cystathioninemia	-	OMIM:277400
5052	PRDX1	HP:0000980	Pallor	1/3	OMIM:277400
5052	PRDX1	HP:0000276	Long face	-	OMIM:277400
5052	PRDX1	HP:0000238	Hydrocephalus	-	OMIM:277400
5052	PRDX1	HP:0000252	Microcephaly	-	OMIM:277400
5052	PRDX1	HP:0001508	Failure to thrive	-	OMIM:277400
5052	PRDX1	HP:0001518	Small for gestational age	1/3	OMIM:277400
5052	PRDX1	HP:0002912	Methylmalonic acidemia	12/13	OMIM:277400
5052	PRDX1	HP:0001695	Cardiac arrest	1/3	OMIM:277400
5052	PRDX1	HP:0000369	Low-set ears	-	OMIM:277400
5052	PRDX1	HP:0000348	High forehead	-	OMIM:277400
5052	PRDX1	HP:0000319	Smooth philtrum	-	OMIM:277400
5052	PRDX1	HP:0001649	Tachycardia	2/3	OMIM:277400
5052	PRDX1	HP:0001662	Bradycardia	1/3	OMIM:277400
5052	PRDX1	HP:0000400	Macrotia	-	OMIM:277400
5052	PRDX1	HP:0000505	Visual impairment	-	OMIM:277400
5052	PRDX1	HP:0000580	Pigmentary retinopathy	-	OMIM:277400
5052	PRDX1	HP:0001889	Megaloblastic anemia	1/3	OMIM:277400
5052	PRDX1	HP:0001873	Thrombocytopenia	-	OMIM:277400
5052	PRDX1	HP:0001875	Decreased total neutrophil count	-	OMIM:277400
5053	PAH	HP:0001156	Brachydactyly	HP:0040284	ORPHA:2209
5053	PAH	HP:0008589	Hypoplastic helices	HP:0040284	ORPHA:2209
5053	PAH	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:79254
5053	PAH	HP:0001276	Hypertonia	HP:0040282	ORPHA:79254
5053	PAH	HP:0001268	Mental deterioration	HP:0040282	ORPHA:79254
5053	PAH	HP:0001250	Seizure	-	OMIM:261600
5053	PAH	HP:0001250	Seizure	HP:0040282	ORPHA:79254
5053	PAH	HP:0001250	Seizure	HP:0040283	ORPHA:2209
5053	PAH	HP:0001249	Intellectual disability	-	OMIM:261600
5053	PAH	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2209
5053	PAH	HP:0001263	Global developmental delay	HP:0040281	ORPHA:79254
5053	PAH	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2209
5053	PAH	HP:0002514	Cerebral calcification	-	OMIM:261600
5053	PAH	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:79254
5053	PAH	HP:0002686	Pregnancy history	-	OMIM:261600
5053	PAH	HP:0001347	Hyperreflexia	-	OMIM:261600
5053	PAH	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:79254
5053	PAH	HP:0007513	Generalized hypopigmentation	-	OMIM:261600
5053	PAH	HP:0000007	Autosomal recessive inheritance	-	OMIM:261600
5053	PAH	HP:0001337	Tremor	HP:0040282	ORPHA:79254
5053	PAH	HP:0001488	Bilateral ptosis	HP:0040284	ORPHA:2209
5053	PAH	HP:0410066	Increased level of hippuric acid in urine	20/20	OMIM:261600
5053	PAH	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:79254
5053	PAH	HP:0002032	Esophageal atresia	HP:0040284	ORPHA:2209
5053	PAH	HP:0005982	Reduced phenylalanine hydroxylase level	-	OMIM:261600
5053	PAH	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2209
5053	PAH	HP:0034458	Elevated urinary phenylpyruvic acid level	-	OMIM:261600
5053	PAH	HP:0009611	Bifid distal phalanx of the thumb	HP:0040284	ORPHA:2209
5053	PAH	HP:6000281	Elevated urinary gamma-glutamylphenylalanine level	12/12	OMIM:261600
5053	PAH	HP:0010550	Paraplegia	HP:0040283	ORPHA:79254
5053	PAH	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:79254
5053	PAH	HP:0002286	Fair hair	-	OMIM:261600
5053	PAH	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:261600
5053	PAH	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:79254
5053	PAH	HP:0001010	Hypopigmentation of the skin	HP:0040281	ORPHA:79254
5053	PAH	HP:0002354	Memory impairment	HP:0040282	ORPHA:79254
5053	PAH	HP:0002333	Motor deterioration	HP:0040283	ORPHA:79254
5053	PAH	HP:0100679	Lack of skin elasticity	HP:0040283	ORPHA:79254
5053	PAH	HP:0100610	Maternal hyperphenylalaninemia	-	OMIM:261600
5053	PAH	HP:0002301	Hemiplegia	HP:0040283	ORPHA:79254
5053	PAH	HP:0004923	Hyperphenylalaninemia	-	OMIM:261600
5053	PAH	HP:0004923	Hyperphenylalaninemia	HP:0040281	ORPHA:79254
5053	PAH	HP:0004920	Phenylpyruvic acidemia	-	OMIM:261600
5053	PAH	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:79254
5053	PAH	HP:0000635	Blue irides	-	OMIM:261600
5053	PAH	HP:0000601	Hypotelorism	HP:0040284	ORPHA:2209
5053	PAH	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:2209
5053	PAH	HP:0004383	Hypoplastic left heart	HP:0040282	ORPHA:2209
5053	PAH	HP:0000752	Hyperactivity	-	OMIM:261600
5053	PAH	HP:0000752	Hyperactivity	HP:0040283	ORPHA:2209
5053	PAH	HP:0000737	Irritability	-	OMIM:261600
5053	PAH	HP:0000739	Anxiety	-	OMIM:261600
5053	PAH	HP:0000742	Self-mutilation	-	OMIM:261600
5053	PAH	HP:0000716	Depression	-	OMIM:261600
5053	PAH	HP:0000716	Depression	HP:0040282	ORPHA:79254
5053	PAH	HP:0000718	Aggressive behavior	-	OMIM:261600
5053	PAH	HP:0000717	Autism	HP:0040282	ORPHA:79254
5053	PAH	HP:0000722	Compulsive behaviors	-	OMIM:261600
5053	PAH	HP:0000709	Psychosis	-	OMIM:261600
5053	PAH	HP:0000708	Atypical behavior	HP:0040281	ORPHA:79254
5053	PAH	HP:0004411	Deviated nasal septum	HP:0040284	ORPHA:2209
5053	PAH	HP:0100324	Scleroderma	-	OMIM:261600
5053	PAH	HP:0000958	Dry skin	-	OMIM:261600
5053	PAH	HP:0000964	Eczematoid dermatitis	-	OMIM:261600
5053	PAH	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:79254
5053	PAH	HP:0000286	Epicanthus	HP:0040284	ORPHA:2209
5053	PAH	HP:0030084	Clinodactyly	HP:0040284	ORPHA:2209
5053	PAH	HP:0000252	Microcephaly	-	OMIM:261600
5053	PAH	HP:0000252	Microcephaly	HP:0040282	ORPHA:79254
5053	PAH	HP:0000252	Microcephaly	HP:0040282	ORPHA:2209
5053	PAH	HP:0012210	Abnormal renal morphology	HP:0040284	ORPHA:2209
5053	PAH	HP:0000218	High palate	HP:0040283	ORPHA:2209
5053	PAH	HP:0002836	Bladder exstrophy	HP:0040284	ORPHA:2209
5053	PAH	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2209
5053	PAH	HP:0001510	Growth delay	HP:0040281	ORPHA:79254
5053	PAH	HP:0000340	Sloping forehead	HP:0040284	ORPHA:2209
5053	PAH	HP:0000343	Long philtrum	HP:0040283	ORPHA:2209
5053	PAH	HP:0001680	Coarctation of aorta	HP:0040282	ORPHA:2209
5053	PAH	HP:0000347	Micrognathia	HP:0040283	ORPHA:2209
5053	PAH	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:2209
5053	PAH	HP:0001627	Abnormal heart morphology	HP:0040281	ORPHA:2209
5053	PAH	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:2209
5053	PAH	HP:0001719	Double outlet right ventricle	HP:0040283	ORPHA:2209
5053	PAH	HP:0000486	Strabismus	HP:0040284	ORPHA:2209
5053	PAH	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2209
5053	PAH	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:2209
5053	PAH	HP:0000518	Cataract	-	OMIM:261600
5053	PAH	HP:0000518	Cataract	HP:0040283	ORPHA:79254
5054	SERPINE1	HP:0007420	Spontaneous hematomas	-	ORPHA:465
5054	SERPINE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613329
5054	SERPINE1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613329
5054	SERPINE1	HP:0006298	Prolonged bleeding after dental extraction	HP:0040283	ORPHA:465
5054	SERPINE1	HP:0000132	Menorrhagia	HP:0040282	ORPHA:465
5054	SERPINE1	HP:0000132	Menorrhagia	-	OMIM:613329
5054	SERPINE1	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:465
5054	SERPINE1	HP:0011891	Post-partum hemorrhage	HP:0040283	ORPHA:465
5054	SERPINE1	HP:0011854	Hemoperitoneum	HP:0040284	ORPHA:465
5054	SERPINE1	HP:0003577	Congenital onset	-	OMIM:613329
5054	SERPINE1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:465
5054	SERPINE1	HP:0004846	Prolonged bleeding after surgery	HP:0040281	ORPHA:465
5054	SERPINE1	HP:0001058	Poor wound healing	HP:0040284	ORPHA:465
5054	SERPINE1	HP:0001933	Subcutaneous hemorrhage	HP:0040282	ORPHA:465
5054	SERPINE1	HP:0001934	Persistent bleeding after trauma	HP:0040281	ORPHA:465
5054	SERPINE1	HP:0030657	Umbilical cord hematoma	HP:0040283	ORPHA:465
5054	SERPINE1	HP:0100310	Epidural hemorrhage	HP:0040284	ORPHA:465
5054	SERPINE1	HP:0040228	Decreased level of plasminogen	HP:0040281	ORPHA:465
5054	SERPINE1	HP:0040230	Decreased level of tissue plasminogen activator	HP:0040281	ORPHA:465
5054	SERPINE1	HP:0040245	Reduced alpha-2-antiplasmin activity	HP:0040281	ORPHA:465
5054	SERPINE1	HP:0040248	Reduced plasminogen activator inhibitor 1 activity	HP:0040281	ORPHA:465
5054	SERPINE1	HP:0040249	Reduced plasminogen activator inhibitor 1 antigen	HP:0040281	ORPHA:465
5054	SERPINE1	HP:0040184	Oral bleeding	HP:0040283	ORPHA:465
5054	SERPINE1	HP:0012233	Intramuscular hematoma	HP:0040284	ORPHA:465
5054	SERPINE1	HP:0005268	Miscarriage	HP:0040282	ORPHA:465
5054	SERPINE1	HP:0005261	Joint hemorrhage	HP:0040284	ORPHA:465
5054	SERPINE1	HP:0001685	Myocardial fibrosis	HP:0040284	ORPHA:465
5054	SERPINE1	HP:0001622	Premature birth	HP:0040282	ORPHA:465
5054	SERPINE1	HP:0000421	Epistaxis	HP:0040283	ORPHA:465
5054	SERPINE1	HP:0001892	Abnormal bleeding	-	OMIM:613329
5058	PAK1	HP:0002465	Poor speech	-	OMIM:618158
5058	PAK1	HP:0010863	Receptive language delay	2/2	OMIM:618158
5058	PAK1	HP:0010864	Intellectual disability, severe	2/2	OMIM:618158
5058	PAK1	HP:0008551	Microtia	-	OMIM:618158
5058	PAK1	HP:0001290	Generalized hypotonia	-	OMIM:618158
5058	PAK1	HP:0001270	Motor delay	2/2	OMIM:618158
5058	PAK1	HP:0001250	Seizure	2/2	OMIM:618158
5058	PAK1	HP:0001263	Global developmental delay	-	OMIM:618158
5058	PAK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618158
5058	PAK1	HP:0002020	Gastroesophageal reflux	1/2	OMIM:618158
5058	PAK1	HP:0002007	Frontal bossing	2/2	OMIM:618158
5058	PAK1	HP:0002066	Gait ataxia	2/2	OMIM:618158
5058	PAK1	HP:0003593	Infantile onset	-	OMIM:618158
5058	PAK1	HP:0020045	Esodeviation	1/2	OMIM:618158
5058	PAK1	HP:0002317	Unsteady gait	-	OMIM:618158
5058	PAK1	HP:0001988	Recurrent hypoglycemia	1/2	OMIM:618158
5058	PAK1	HP:0031936	Delayed ability to walk	-	OMIM:618158
5058	PAK1	HP:0000750	Delayed speech and language development	2/2	OMIM:618158
5058	PAK1	HP:0030891	Periventricular white matter hyperintensities	1/2	OMIM:618158
5058	PAK1	HP:0000276	Long face	2/2	OMIM:618158
5058	PAK1	HP:0000337	Broad forehead	-	OMIM:618158
5058	PAK1	HP:0000490	Deeply set eye	2/2	OMIM:618158
5058	PAK1	HP:0012448	Delayed myelination	HP:0040284	OMIM:618158
5058	PAK1	HP:0005490	Postnatal macrocephaly	-	OMIM:618158
5062	PAK2	HP:0001195	Single umbilical artery	1/2	OMIM:618458
5062	PAK2	HP:0033542	Bronchial wall thickening	1/2	OMIM:618458
5062	PAK2	HP:0100832	Vitreous floaters	1/2	OMIM:618458
5062	PAK2	HP:0001250	Seizure	HP:0040283	ORPHA:1571
5062	PAK2	HP:0001250	Seizure	1/2	OMIM:618458
5062	PAK2	HP:0001249	Intellectual disability	1/2	OMIM:618458
5062	PAK2	HP:0001263	Global developmental delay	1/2	OMIM:618458
5062	PAK2	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:1571
5062	PAK2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:1571
5062	PAK2	HP:0001362	Calvarial skull defect	HP:0040281	ORPHA:1571
5062	PAK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618458
5062	PAK2	HP:0006297	Enamel hypoplasia	2/2	OMIM:618458
5062	PAK2	HP:0002021	Pyloric stenosis	1/2	OMIM:618458
5062	PAK2	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:1571
5062	PAK2	HP:0011800	Midface retrusion	HP:0040283	ORPHA:1571
5062	PAK2	HP:0002085	Occipital encephalocele	HP:0040281	ORPHA:1571
5062	PAK2	HP:0002084	Encephalocele	1/2	OMIM:618458
5062	PAK2	HP:0002205	Recurrent respiratory infections	1/2	OMIM:618458
5062	PAK2	HP:0100764	Lymphangioma	HP:0040283	ORPHA:1571
5062	PAK2	HP:0001083	Ectopia lentis	HP:0040283	ORPHA:1571
5062	PAK2	HP:0000639	Nystagmus	HP:0040282	ORPHA:1571
5062	PAK2	HP:0000608	Macular degeneration	HP:0040281	ORPHA:1571
5062	PAK2	HP:0004327	Abnormal vitreous humor morphology	HP:0040282	ORPHA:1571
5062	PAK2	HP:0000717	Autism	1/2	OMIM:618458
5062	PAK2	HP:0000286	Epicanthus	HP:0040283	ORPHA:1571
5062	PAK2	HP:0001595	Abnormal hair morphology	HP:0040283	ORPHA:1571
5062	PAK2	HP:0007795	Anterior cortical cataract	1/2	OMIM:618458
5062	PAK2	HP:0007773	Vitreoretinopathy	2/2	OMIM:618458
5062	PAK2	HP:0007773	Vitreoretinopathy	HP:0040282	ORPHA:1571
5062	PAK2	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:1571
5062	PAK2	HP:0030037	Bifid ureter	HP:0040283	ORPHA:1571
5062	PAK2	HP:0006530	Abnormal pulmonary interstitial morphology	2/2	OMIM:618458
5062	PAK2	HP:0011003	High myopia	2/2	OMIM:618458
5062	PAK2	HP:0000347	Micrognathia	2/2	OMIM:618458
5062	PAK2	HP:0001651	Dextrocardia	HP:0040283	ORPHA:1571
5062	PAK2	HP:0001643	Patent ductus arteriosus	1/2	OMIM:618458
5062	PAK2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1571
5062	PAK2	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:1571
5062	PAK2	HP:0000486	Strabismus	HP:0040283	ORPHA:1571
5062	PAK2	HP:0012450	Chronic constipation	1/2	OMIM:618458
5062	PAK2	HP:0000518	Cataract	HP:0040283	ORPHA:1571
5062	PAK2	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1571
5062	PAK2	HP:0000572	Visual loss	HP:0040282	ORPHA:1571
5062	PAK2	HP:0000541	Retinal detachment	HP:0040281	ORPHA:1571
5062	PAK2	HP:0000541	Retinal detachment	2/2	OMIM:618458
5062	PAK2	HP:0000545	Myopia	HP:0040281	ORPHA:1571
5063	PAK3	HP:0002465	Poor speech	4/5	OMIM:300558
5063	PAK3	HP:0010864	Intellectual disability, severe	2/2	OMIM:300558
5063	PAK3	HP:0001250	Seizure	0/6	OMIM:300558
5063	PAK3	HP:0001252	Hypotonia	2/2	OMIM:300558
5063	PAK3	HP:0001249	Intellectual disability	34/34	OMIM:300558
5063	PAK3	HP:0001263	Global developmental delay	2/2	OMIM:300558
5063	PAK3	HP:0001212	Prominent fingertip pads	5/5	OMIM:300558
5063	PAK3	HP:0001348	Brisk reflexes	2/2	OMIM:300558
5063	PAK3	HP:0000194	Open mouth	4/5	OMIM:300558
5063	PAK3	HP:0001419	X-linked recessive inheritance	-	OMIM:300558
5063	PAK3	HP:0002069	Bilateral tonic-clonic seizure	3/7	OMIM:300558
5063	PAK3	HP:0002121	Generalized non-motor (absence) seizure	1/5	OMIM:300558
5063	PAK3	HP:0002194	Delayed gross motor development	1/5	OMIM:300558
5063	PAK3	HP:0002312	Clumsiness	2/2	OMIM:300558
5063	PAK3	HP:0002307	Drooling	4/7	OMIM:300558
5063	PAK3	HP:0004322	Short stature	2/5	OMIM:300558
5063	PAK3	HP:0031936	Delayed ability to walk	2/2	OMIM:300558
5063	PAK3	HP:0000752	Hyperactivity	1/5	OMIM:300558
5063	PAK3	HP:0000739	Anxiety	1/5	OMIM:300558
5063	PAK3	HP:0000736	Short attention span	3/5	OMIM:300558
5063	PAK3	HP:0000750	Delayed speech and language development	5/5	OMIM:300558
5063	PAK3	HP:0000718	Aggressive behavior	4/5	OMIM:300558
5063	PAK3	HP:0000711	Restlessness	1/5	OMIM:300558
5063	PAK3	HP:0000713	Agitation	2/5	OMIM:300558
5063	PAK3	HP:0000709	Psychosis	1/5	OMIM:300558
5063	PAK3	HP:0003196	Short nose	2/2	OMIM:300558
5063	PAK3	HP:0000238	Hydrocephalus	1/5	OMIM:300558
5063	PAK3	HP:0000252	Microcephaly	4/7	OMIM:300558
5063	PAK3	HP:0000219	Thin upper lip vermilion	5/5	OMIM:300558
5063	PAK3	HP:0000218	High palate	5/5	OMIM:300558
5063	PAK3	HP:0000215	Thick upper lip vermilion	2/2	OMIM:300558
5063	PAK3	HP:0012368	Flat face	2/2	OMIM:300558
5063	PAK3	HP:0000340	Sloping forehead	3/5	OMIM:300558
5063	PAK3	HP:0000336	Prominent supraorbital ridges	2/5	OMIM:300558
5063	PAK3	HP:0000400	Macrotia	13/26	OMIM:300558
5063	PAK3	HP:0000490	Deeply set eye	2/5	OMIM:300558
5063	PAK3	HP:0000463	Anteverted nares	2/2	OMIM:300558
5063	PAK3	HP:0000426	Prominent nasal bridge	5/5	OMIM:300558
5063	PAK3	HP:0000582	Upslanted palpebral fissure	2/2	OMIM:300558
5071	PRKN	HP:0025269	Panic attack	HP:0040283	ORPHA:2828
5071	PRKN	HP:0001288	Gait disturbance	3/3	OMIM:600116
5071	PRKN	HP:0002578	Gastroparesis	HP:0040283	ORPHA:2828
5071	PRKN	HP:0001257	Spasticity	HP:0040283	ORPHA:2828
5071	PRKN	HP:0002505	Loss of ambulation	1/3	OMIM:600116
5071	PRKN	HP:0025387	Pill-rolling tremor	3/3	OMIM:600116
5071	PRKN	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2828
5071	PRKN	HP:0001347	Hyperreflexia	3/3	OMIM:600116
5071	PRKN	HP:0001332	Dystonia	HP:0040283	ORPHA:2828
5071	PRKN	HP:0001332	Dystonia	1/10	OMIM:600116
5071	PRKN	HP:0000007	Autosomal recessive inheritance	-	OMIM:600116
5071	PRKN	HP:0001337	Tremor	HP:0040282	ORPHA:2828
5071	PRKN	HP:0001337	Tremor	12/13	OMIM:600116
5071	PRKN	HP:0000006	Autosomal dominant inheritance	-	OMIM:167000
5071	PRKN	HP:0000006	Autosomal dominant inheritance	-	OMIM:211980
5071	PRKN	HP:0001300	Parkinsonism	13/13	OMIM:600116
5071	PRKN	HP:0001442	Typified by somatic mosaicism	-	OMIM:167000
5071	PRKN	HP:0001442	Typified by somatic mosaicism	-	OMIM:211980
5071	PRKN	HP:0002018	Nausea	HP:0040283	ORPHA:2828
5071	PRKN	HP:0002019	Constipation	HP:0040283	ORPHA:2828
5071	PRKN	HP:0040307	Male sexual dysfunction	HP:0040283	ORPHA:2828
5071	PRKN	HP:0002014	Diarrhea	HP:0040283	ORPHA:2828
5071	PRKN	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2828
5071	PRKN	HP:0002067	Bradykinesia	10/10	OMIM:600116
5071	PRKN	HP:0002067	Bradykinesia	HP:0040283	ORPHA:2828
5071	PRKN	HP:0002066	Gait ataxia	1/3	OMIM:600116
5071	PRKN	HP:0003394	Muscle spasm	HP:0040283	ORPHA:2828
5071	PRKN	HP:0002063	Rigidity	11/13	OMIM:600116
5071	PRKN	HP:0002063	Rigidity	HP:0040281	ORPHA:2828
5071	PRKN	HP:0002059	Cerebral atrophy	1/10	OMIM:600116
5071	PRKN	HP:0002141	Gait imbalance	HP:0040283	ORPHA:2828
5071	PRKN	HP:0003487	Babinski sign	2/3	OMIM:600116
5071	PRKN	HP:0002174	Postural tremor	1/3	OMIM:600116
5071	PRKN	HP:0002172	Postural instability	1/3	OMIM:600116
5071	PRKN	HP:0002172	Postural instability	HP:0040282	ORPHA:2828
5071	PRKN	HP:0003596	Middle age onset	2/13	OMIM:600116
5071	PRKN	HP:0100710	Impulsivity	HP:0040284	ORPHA:2828
5071	PRKN	HP:0100785	Insomnia	HP:0040283	ORPHA:2828
5071	PRKN	HP:0011960	Substantia nigra gliosis	1/1	OMIM:600116
5071	PRKN	HP:0002396	Cogwheel rigidity	1/3	OMIM:600116
5071	PRKN	HP:0002362	Shuffling gait	1/3	OMIM:600116
5071	PRKN	HP:0002375	Hypokinesia	3/3	OMIM:600116
5071	PRKN	HP:0002322	Resting tremor	1/3	OMIM:600116
5071	PRKN	HP:0100660	Dyskinesia	HP:0040282	ORPHA:2828
5071	PRKN	HP:0100621	Dysgerminoma	-	OMIM:167000
5071	PRKN	HP:0003621	Juvenile onset	2/10	OMIM:600116
5071	PRKN	HP:0000651	Diplopia	HP:0040284	ORPHA:2828
5071	PRKN	HP:0003002	Breast carcinoma	-	OMIM:167000
5071	PRKN	HP:0004373	Focal dystonia	1/3	OMIM:600116
5071	PRKN	HP:0000738	Hallucinations	HP:0040282	ORPHA:2828
5071	PRKN	HP:0000739	Anxiety	HP:0040283	ORPHA:2828
5071	PRKN	HP:0000736	Short attention span	HP:0040283	ORPHA:2828
5071	PRKN	HP:0000741	Apathy	HP:0040282	ORPHA:2828
5071	PRKN	HP:0000716	Depression	HP:0040282	ORPHA:2828
5071	PRKN	HP:0000713	Agitation	HP:0040284	ORPHA:2828
5071	PRKN	HP:0000727	Frontal lobe dementia	HP:0040284	ORPHA:2828
5071	PRKN	HP:0000726	Dementia	HP:0040283	ORPHA:2828
5071	PRKN	HP:0000726	Dementia	0/10	OMIM:600116
5071	PRKN	HP:0011462	Young adult onset	7/10	OMIM:600116
5071	PRKN	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:2828
5071	PRKN	HP:0004409	Hyposmia	HP:0040283	ORPHA:2828
5071	PRKN	HP:0100315	Lewy bodies	0/1	OMIM:600116
5071	PRKN	HP:0030078	Lung adenocarcinoma	-	OMIM:211980
5071	PRKN	HP:0030014	Female sexual dysfunction	HP:0040283	ORPHA:2828
5071	PRKN	HP:0006519	Alveolar cell carcinoma	-	OMIM:211980
5071	PRKN	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:2828
5071	PRKN	HP:0012452	Restless legs	HP:0040283	ORPHA:2828
5071	PRKN	HP:0025710	Late young adult onset	1/3	OMIM:600116
5071	PRKN	HP:0025708	Early young adult onset	1/3	OMIM:600116
5071	PRKN	HP:0006774	Ovarian papillary adenocarcinoma	-	OMIM:167000
5071	PRKN	HP:0030358	Non-small cell lung carcinoma	-	OMIM:211980
5071	PRKN	HP:0000551	Color vision defect	HP:0040283	ORPHA:2828
5073	PARN	HP:0009926	Epiphora	1/4	OMIM:616353
5073	PARN	HP:0025175	Honeycomb lung	HP:0040282	ORPHA:2032
5073	PARN	HP:0025175	Honeycomb lung	-	OMIM:616371
5073	PARN	HP:0025179	Ground-glass opacification	HP:0040282	ORPHA:2032
5073	PARN	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:1775
5073	PARN	HP:0001276	Hypertonia	HP:0040282	ORPHA:3322
5073	PARN	HP:0001251	Ataxia	1/4	OMIM:616353
5073	PARN	HP:0001251	Ataxia	HP:0040283	ORPHA:3322
5073	PARN	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3322
5073	PARN	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:3322
5073	PARN	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3322
5073	PARN	HP:0001263	Global developmental delay	4/4	OMIM:616353
5073	PARN	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1775
5073	PARN	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1775
5073	PARN	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1775
5073	PARN	HP:0007440	Generalized hyperpigmentation	HP:0040282	ORPHA:3322
5073	PARN	HP:0007392	Excessive wrinkled skin	HP:0040282	ORPHA:3322
5073	PARN	HP:0008661	Urethral stenosis	HP:0040282	ORPHA:1775
5073	PARN	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:3322
5073	PARN	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:1775
5073	PARN	HP:0003829	Typified by incomplete penetrance	-	OMIM:616371
5073	PARN	HP:0032341	Reduced forced vital capacity	HP:0040282	ORPHA:2032
5073	PARN	HP:0032341	Reduced forced vital capacity	8/8	OMIM:616371
5073	PARN	HP:0032342	Reduced forced expiratory volume in one second	5/8	OMIM:616371
5073	PARN	HP:0001399	Hepatic failure	HP:0040283	ORPHA:1775
5073	PARN	HP:0001394	Cirrhosis	HP:0040283	ORPHA:1775
5073	PARN	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:1775
5073	PARN	HP:0025390	Reticular pattern on pulmonary HRCT	HP:0040282	ORPHA:2032
5073	PARN	HP:0002664	Neoplasm	HP:0040283	ORPHA:3322
5073	PARN	HP:0002664	Neoplasm	HP:0040282	ORPHA:1775
5073	PARN	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040282	ORPHA:1775
5073	PARN	HP:0000007	Autosomal recessive inheritance	-	OMIM:616353
5073	PARN	HP:0002665	Lymphoma	HP:0040283	ORPHA:1775
5073	PARN	HP:0000006	Autosomal dominant inheritance	-	OMIM:616371
5073	PARN	HP:0002650	Scoliosis	HP:0040283	ORPHA:1775
5073	PARN	HP:0001321	Cerebellar hypoplasia	4/4	OMIM:616353
5073	PARN	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:3322
5073	PARN	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:1775
5073	PARN	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:1775
5073	PARN	HP:0002745	Oral leukoplakia	HP:0040282	ORPHA:3322
5073	PARN	HP:0002745	Oral leukoplakia	3/4	OMIM:616353
5073	PARN	HP:0002745	Oral leukoplakia	HP:0040281	ORPHA:1775
5073	PARN	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:3322
5073	PARN	HP:0002024	Malabsorption	HP:0040282	ORPHA:1775
5073	PARN	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2032
5073	PARN	HP:0010444	Pulmonic regurgitation	HP:0040283	ORPHA:2032
5073	PARN	HP:0010450	Esophageal stenosis	HP:0040282	ORPHA:1775
5073	PARN	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:1775
5073	PARN	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:3322
5073	PARN	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:3322
5073	PARN	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:2032
5073	PARN	HP:0003593	Infantile onset	-	OMIM:616353
5073	PARN	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:1775
5073	PARN	HP:0003581	Adult onset	-	OMIM:616371
5073	PARN	HP:0002216	Premature graying of hair	HP:0040283	OMIM:616371
5073	PARN	HP:0002216	Premature graying of hair	HP:0040282	ORPHA:3322
5073	PARN	HP:0002216	Premature graying of hair	HP:0040283	ORPHA:1775
5073	PARN	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:2032
5073	PARN	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:3322
5073	PARN	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1775
5073	PARN	HP:0002206	Pulmonary fibrosis	-	OMIM:616371
5073	PARN	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:2032
5073	PARN	HP:0008404	Nail dystrophy	3/4	OMIM:616353
5073	PARN	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:3322
5073	PARN	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:1775
5073	PARN	HP:0100759	Clubbing of fingers	HP:0040282	ORPHA:2032
5073	PARN	HP:0033367	Orthodeoxia	HP:0040283	ORPHA:2032
5073	PARN	HP:0010624	Aplastic/hypoplastic toenail	HP:0040282	ORPHA:1775
5073	PARN	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:1775
5073	PARN	HP:0001063	Acrocyanosis	HP:0040282	ORPHA:2032
5073	PARN	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:1775
5073	PARN	HP:0001000	Abnormality of skin pigmentation	3/4	OMIM:616353
5073	PARN	HP:0200037	Skin vesicle	HP:0040283	ORPHA:1775
5073	PARN	HP:0100670	Coarse metaphyseal trabecularization	HP:0040282	ORPHA:1775
5073	PARN	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:1775
5073	PARN	HP:0200042	Skin ulcer	HP:0040282	ORPHA:1775
5073	PARN	HP:0005528	Bone marrow hypocellularity	HP:0040283	ORPHA:3322
5073	PARN	HP:0005528	Bone marrow hypocellularity	4/4	OMIM:616353
5073	PARN	HP:0005528	Bone marrow hypocellularity	HP:0040282	ORPHA:1775
5073	PARN	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:3322
5073	PARN	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:1775
5073	PARN	HP:0000600	Abnormality of the pharynx	HP:0040282	ORPHA:1775
5073	PARN	HP:0001903	Anemia	HP:0040282	ORPHA:3322
5073	PARN	HP:0001903	Anemia	HP:0040281	ORPHA:1775
5073	PARN	HP:0011358	Generalized hypopigmentation of hair	HP:0040282	ORPHA:3322
5073	PARN	HP:0011364	White hair	HP:0040283	ORPHA:1775
5073	PARN	HP:0000679	Taurodontia	HP:0040282	ORPHA:1775
5073	PARN	HP:0000670	Carious teeth	1/4	OMIM:616353
5073	PARN	HP:0000670	Carious teeth	HP:0040282	ORPHA:1775
5073	PARN	HP:0000668	Hypodontia	HP:0040282	ORPHA:1775
5073	PARN	HP:0004322	Short stature	HP:0040281	ORPHA:3322
5073	PARN	HP:0004322	Short stature	HP:0040282	ORPHA:1775
5073	PARN	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:3322
5073	PARN	HP:0031950	Usual interstitial pneumonia	HP:0040282	ORPHA:2032
5073	PARN	HP:0012735	Cough	HP:0040282	ORPHA:2032
5073	PARN	HP:0012735	Cough	-	OMIM:616371
5073	PARN	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:1775
5073	PARN	HP:0012733	Macule	HP:0040281	ORPHA:1775
5073	PARN	HP:0000704	Periodontitis	HP:0040282	ORPHA:1775
5073	PARN	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1775
5073	PARN	HP:0045051	Decreased DLCO	8/8	OMIM:616371
5073	PARN	HP:0045051	Decreased DLCO	HP:0040282	ORPHA:2032
5073	PARN	HP:0030830	Crackles	HP:0040282	ORPHA:2032
5073	PARN	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1775
5073	PARN	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:1775
5073	PARN	HP:0000939	Osteoporosis	HP:0040283	ORPHA:1775
5073	PARN	HP:0008070	Sparse hair	1/4	OMIM:616353
5073	PARN	HP:0008070	Sparse hair	HP:0040282	ORPHA:1775
5073	PARN	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1775
5073	PARN	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:1775
5073	PARN	HP:0001596	Alopecia	1/4	OMIM:616353
5073	PARN	HP:0001596	Alopecia	HP:0040283	ORPHA:1775
5073	PARN	HP:0031413	Short telomere length	-	OMIM:616371
5073	PARN	HP:0031413	Short telomere length	3/3	OMIM:616353
5073	PARN	HP:0000252	Microcephaly	HP:0040281	ORPHA:3322
5073	PARN	HP:0000252	Microcephaly	4/4	OMIM:616353
5073	PARN	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:2032
5073	PARN	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:1775
5073	PARN	HP:0001508	Failure to thrive	1/4	OMIM:616353
5073	PARN	HP:0001508	Failure to thrive	HP:0040281	ORPHA:3322
5073	PARN	HP:0001511	Intrauterine growth retardation	1/4	OMIM:616353
5073	PARN	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3322
5073	PARN	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1775
5073	PARN	HP:0012378	Fatigue	HP:0040282	ORPHA:2032
5073	PARN	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040281	ORPHA:2032
5073	PARN	HP:0006480	Premature loss of teeth	1/4	OMIM:616353
5073	PARN	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1775
5073	PARN	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:1775
5073	PARN	HP:0031631	Subpleural honeycombing	HP:0040282	ORPHA:2032
5073	PARN	HP:0000499	Abnormal eyelash morphology	HP:0040283	ORPHA:1775
5073	PARN	HP:0000498	Blepharitis	HP:0040283	ORPHA:1775
5073	PARN	HP:0005374	Cellular immunodeficiency	HP:0040282	ORPHA:1775
5073	PARN	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1775
5073	PARN	HP:0000518	Cataract	HP:0040283	ORPHA:1775
5073	PARN	HP:0000534	Abnormal eyebrow morphology	HP:0040283	ORPHA:1775
5073	PARN	HP:0001881	Abnormal leukocyte morphology	HP:0040283	ORPHA:3322
5073	PARN	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:1775
5073	PARN	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:3322
5073	PARN	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:1775
5075	PAX1	HP:0001182	Tapered finger	HP:0040283	OMIM:615560
5075	PAX1	HP:0001276	Hypertonia	HP:0040281	ORPHA:2792
5075	PAX1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2792
5075	PAX1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2792
5075	PAX1	HP:0001263	Global developmental delay	3/4	OMIM:615560
5075	PAX1	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2792
5075	PAX1	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:2792
5075	PAX1	HP:0007477	Abnormal dermatoglyphics	HP:0040281	ORPHA:2792
5075	PAX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615560
5075	PAX1	HP:0007678	Lacrimal duct stenosis	4/4	OMIM:615560
5075	PAX1	HP:0000107	Renal cyst	2/4	OMIM:615560
5075	PAX1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:2792
5075	PAX1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:2792
5075	PAX1	HP:0009738	Abnormal antihelix morphology	HP:0040282	ORPHA:2792
5075	PAX1	HP:0003691	Scapular winging	HP:0040281	ORPHA:2792
5075	PAX1	HP:0003691	Scapular winging	2/4	OMIM:615560
5075	PAX1	HP:0002342	Intellectual disability, moderate	3/4	OMIM:615560
5075	PAX1	HP:0200021	Down-sloping shoulders	HP:0040281	ORPHA:2792
5075	PAX1	HP:0200021	Down-sloping shoulders	1/3	OMIM:615560
5075	PAX1	HP:0000689	Dental malocclusion	HP:0040283	OMIM:615560
5075	PAX1	HP:0000670	Carious teeth	4/4	OMIM:615560
5075	PAX1	HP:0004322	Short stature	HP:0040281	ORPHA:2792
5075	PAX1	HP:0030668	Periorbital dermoid cyst	1/4	OMIM:615560
5075	PAX1	HP:0004467	Preauricular pit	4/4	OMIM:615560
5075	PAX1	HP:0004467	Preauricular pit	HP:0040281	ORPHA:2792
5075	PAX1	HP:0000889	Abnormal clavicle morphology	HP:0040281	ORPHA:2792
5075	PAX1	HP:0000293	Full cheeks	HP:0040281	ORPHA:2792
5075	PAX1	HP:0000265	Mastoiditis	HP:0040283	OMIM:615560
5075	PAX1	HP:0030084	Clinodactyly	HP:0040283	OMIM:615560
5075	PAX1	HP:0000218	High palate	HP:0040281	ORPHA:2792
5075	PAX1	HP:0000378	Cupped ear	4/4	OMIM:615560
5075	PAX1	HP:0000369	Low-set ears	4/4	OMIM:615560
5075	PAX1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:2792
5075	PAX1	HP:0000308	Microretrognathia	4/4	OMIM:615560
5075	PAX1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:2792
5075	PAX1	HP:0000400	Macrotia	HP:0040281	ORPHA:2792
5075	PAX1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:2792
5075	PAX1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:2792
5075	PAX1	HP:0000411	Protruding ear	HP:0040281	ORPHA:2792
5075	PAX1	HP:0000410	Mixed hearing impairment	4/4	OMIM:615560
5075	PAX1	HP:0000413	Atresia of the external auditory canal	HP:0040283	ORPHA:2792
5075	PAX1	HP:0000431	Wide nasal bridge	2/3	OMIM:615560
5075	PAX1	HP:0000522	Alacrima	4/4	OMIM:615560
5075	PAX1	HP:0000509	Conjunctivitis	3/4	OMIM:615560
5075	PAX1	HP:0000592	Blue sclerae	HP:0040283	OMIM:615560
5076	PAX2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5076	PAX2	HP:0001144	Orbital cyst	-	OMIM:120330
5076	PAX2	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
5076	PAX2	HP:0003774	Stage 5 chronic kidney disease	9/18	OMIM:616002
5076	PAX2	HP:0003774	Stage 5 chronic kidney disease	2/4	OMIM:120330
5076	PAX2	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
5076	PAX2	HP:0001254	Lethargy	HP:0040283	ORPHA:97362
5076	PAX2	HP:0001250	Seizure	-	OMIM:120330
5076	PAX2	HP:0001249	Intellectual disability	-	OMIM:120330
5076	PAX2	HP:0003829	Typified by incomplete penetrance	-	OMIM:616002
5076	PAX2	HP:0000089	Renal hypoplasia	HP:0040281	ORPHA:97362
5076	PAX2	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:1475
5076	PAX2	HP:0000089	Renal hypoplasia	1/18	OMIM:616002
5076	PAX2	HP:0000089	Renal hypoplasia	3/4	OMIM:120330
5076	PAX2	HP:0000083	Renal insufficiency	HP:0040281	ORPHA:1475
5076	PAX2	HP:0000085	Horseshoe kidney	HP:0040283	OMIM:120330
5076	PAX2	HP:0000097	Focal segmental glomerulosclerosis	-	OMIM:616002
5076	PAX2	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
5076	PAX2	HP:0000093	Proteinuria	-	OMIM:616002
5076	PAX2	HP:0000093	Proteinuria	HP:0040282	ORPHA:97362
5076	PAX2	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
5076	PAX2	HP:0000093	Proteinuria	-	OMIM:120330
5076	PAX2	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:97362
5076	PAX2	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:1475
5076	PAX2	HP:0000076	Vesicoureteral reflux	2/4	OMIM:120330
5076	PAX2	HP:0001382	Joint hypermobility	-	OMIM:120330
5076	PAX2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:1475
5076	PAX2	HP:0012019	Lens luxation	HP:0040283	OMIM:120330
5076	PAX2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:97362
5076	PAX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5076	PAX2	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:1475
5076	PAX2	HP:0000003	Multicystic kidney dysplasia	-	OMIM:120330
5076	PAX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5076	PAX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:120330
5076	PAX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616002
5076	PAX2	HP:0002650	Scoliosis	2/4	OMIM:120330
5076	PAX2	HP:0002643	Neonatal respiratory distress	HP:0040283	ORPHA:97362
5076	PAX2	HP:0025466	Beta 2-microglobulinuria	HP:0040283	ORPHA:97362
5076	PAX2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5076	PAX2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5076	PAX2	HP:0007663	Reduced visual acuity	4/4	OMIM:120330
5076	PAX2	HP:0000100	Nephrotic syndrome	-	OMIM:616002
5076	PAX2	HP:0000110	Renal dysplasia	HP:0040282	ORPHA:1475
5076	PAX2	HP:0000107	Renal cyst	HP:0040282	ORPHA:97362
5076	PAX2	HP:0000107	Renal cyst	-	OMIM:120330
5076	PAX2	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
5076	PAX2	HP:0002009	Potter facies	HP:0040282	ORPHA:97362
5076	PAX2	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
5076	PAX2	HP:0100520	Oliguria	HP:0040283	ORPHA:97362
5076	PAX2	HP:0002153	Hyperkalemia	HP:0040283	ORPHA:97362
5076	PAX2	HP:0002171	Gliosis	-	OMIM:120330
5076	PAX2	HP:0004712	Renal malrotation	HP:0040283	OMIM:120330
5076	PAX2	HP:0003577	Congenital onset	4/4	OMIM:120330
5076	PAX2	HP:0003581	Adult onset	-	OMIM:616002
5076	PAX2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:97362
5076	PAX2	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
5076	PAX2	HP:0007099	Chiari type I malformation	-	OMIM:120330
5076	PAX2	HP:0002315	Headache	HP:0040283	ORPHA:656
5076	PAX2	HP:0001093	Optic nerve dysplasia	HP:0040281	ORPHA:1475
5076	PAX2	HP:0003621	Juvenile onset	8/19	OMIM:180100
5076	PAX2	HP:0005564	Absence of renal corticomedullary differentiation	1/4	OMIM:120330
5076	PAX2	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:97362
5076	PAX2	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
5076	PAX2	HP:0012622	Chronic kidney disease	4/4	OMIM:120330
5076	PAX2	HP:0000639	Nystagmus	HP:0040283	ORPHA:1475
5076	PAX2	HP:0000639	Nystagmus	HP:0040283	ORPHA:97362
5076	PAX2	HP:0000639	Nystagmus	1/4	OMIM:120330
5076	PAX2	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
5076	PAX2	HP:0001945	Fever	HP:0040283	ORPHA:656
5076	PAX2	HP:0001942	Metabolic acidosis	HP:0040283	ORPHA:97362
5076	PAX2	HP:0000608	Macular degeneration	HP:0040283	OMIM:120330
5076	PAX2	HP:0001903	Anemia	HP:0040283	ORPHA:97362
5076	PAX2	HP:0000662	Nyctalopia	26/28	OMIM:180100
5076	PAX2	HP:0004322	Short stature	HP:0040283	ORPHA:97362
5076	PAX2	HP:0004322	Short stature	2/4	OMIM:120330
5076	PAX2	HP:0003076	Glycosuria	HP:0040283	ORPHA:97362
5076	PAX2	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
5076	PAX2	HP:0000737	Irritability	HP:0040283	ORPHA:656
5076	PAX2	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
5076	PAX2	HP:0011463	Childhood onset	3/19	OMIM:180100
5076	PAX2	HP:0011462	Young adult onset	8/19	OMIM:180100
5076	PAX2	HP:0000790	Hematuria	2/4	OMIM:120330
5076	PAX2	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:97362
5076	PAX2	HP:0000787	Nephrolithiasis	HP:0040283	OMIM:120330
5076	PAX2	HP:0011509	Macular hyperpigmentation	HP:0040283	OMIM:120330
5076	PAX2	HP:0000822	Hypertension	HP:0040282	ORPHA:97362
5076	PAX2	HP:0000822	Hypertension	3/4	OMIM:120330
5076	PAX2	HP:0030854	Scleral staphyloma	1/4	OMIM:120330
5076	PAX2	HP:0003259	Elevated circulating creatinine concentration	1/1	OMIM:120330
5076	PAX2	HP:0000977	Soft skin	-	OMIM:120330
5076	PAX2	HP:0000974	Hyperextensible skin	-	OMIM:120330
5076	PAX2	HP:0000969	Edema	HP:0040283	ORPHA:97362
5076	PAX2	HP:0000969	Edema	HP:0040281	ORPHA:656
5076	PAX2	HP:0000969	Edema	HP:0040283	OMIM:120330
5076	PAX2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5076	PAX2	HP:0012213	Decreased glomerular filtration rate	HP:0040282	ORPHA:97362
5076	PAX2	HP:0025514	Morning glory anomaly	-	OMIM:120330
5076	PAX2	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:97362
5076	PAX2	HP:0001508	Failure to thrive	HP:0040283	ORPHA:97362
5076	PAX2	HP:0001518	Small for gestational age	HP:0040283	ORPHA:97362
5076	PAX2	HP:0001510	Growth delay	HP:0040283	ORPHA:97362
5076	PAX2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5076	PAX2	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
5076	PAX2	HP:0002907	Microscopic hematuria	HP:0040283	ORPHA:97362
5076	PAX2	HP:0002902	Hyponatremia	HP:0040283	ORPHA:97362
5076	PAX2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1475
5076	PAX2	HP:0011003	High myopia	3/4	OMIM:120330
5076	PAX2	HP:0001622	Premature birth	HP:0040283	ORPHA:97362
5076	PAX2	HP:0000407	Sensorineural hearing impairment	1/4	OMIM:120330
5076	PAX2	HP:0000483	Astigmatism	HP:0040283	ORPHA:97362
5076	PAX2	HP:0000486	Strabismus	HP:0040283	ORPHA:1475
5076	PAX2	HP:0000486	Strabismus	1/4	OMIM:120330
5076	PAX2	HP:0000480	Retinal coloboma	-	OMIM:120330
5076	PAX2	HP:0000480	Retinal coloboma	HP:0040283	ORPHA:1475
5076	PAX2	HP:0000518	Cataract	HP:0040283	OMIM:120330
5076	PAX2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5076	PAX2	HP:0000505	Visual impairment	HP:0040282	ORPHA:1475
5076	PAX2	HP:0012595	Mild proteinuria	3/4	OMIM:120330
5076	PAX2	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
5076	PAX2	HP:0000575	Scotoma	5/18	OMIM:180100
5076	PAX2	HP:0000588	Optic disc coloboma	4/4	OMIM:120330
5076	PAX2	HP:0000588	Optic disc coloboma	HP:0040283	ORPHA:1475
5076	PAX2	HP:0000568	Microphthalmia	-	OMIM:120330
5076	PAX2	HP:0000541	Retinal detachment	HP:0040283	OMIM:120330
5076	PAX2	HP:0000540	Hypermetropia	HP:0040283	ORPHA:97362
5076	PAX2	HP:0000533	Chorioretinal atrophy	-	OMIM:120330
5076	PAX2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5076	PAX2	HP:0000545	Myopia	-	OMIM:180100
5076	PAX2	HP:0000545	Myopia	HP:0040282	ORPHA:1475
5077	PAX3	HP:0001156	Brachydactyly	-	OMIM:148820
5077	PAX3	HP:0001167	Abnormal finger morphology	HP:0040281	ORPHA:896
5077	PAX3	HP:0002475	Myelomeningocele	HP:0040283	OMIM:193500
5077	PAX3	HP:0002435	Meningocele	HP:0040283	ORPHA:894
5077	PAX3	HP:0009933	Narrow naris	-	OMIM:122880
5077	PAX3	HP:0009933	Narrow naris	1/1	OMIM:148820
5077	PAX3	HP:0009924	Aplasia/Hypoplasia involving the nose	HP:0040281	ORPHA:1529
5077	PAX3	HP:0010862	Delayed fine motor development	1/1	OMIM:148820
5077	PAX3	HP:0002414	Spina bifida	HP:0040283	ORPHA:894
5077	PAX3	HP:0002414	Spina bifida	-	OMIM:193500
5077	PAX3	HP:0001100	Heterochromia iridis	HP:0040281	ORPHA:894
5077	PAX3	HP:0001100	Heterochromia iridis	-	OMIM:193500
5077	PAX3	HP:0001100	Heterochromia iridis	-	OMIM:148820
5077	PAX3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5077	PAX3	HP:0001293	Cranial nerve compression	-	OMIM:131300
5077	PAX3	HP:0001252	Hypotonia	2/7	OMIM:615777
5077	PAX3	HP:0001249	Intellectual disability	-	OMIM:148820
5077	PAX3	HP:0001249	Intellectual disability	HP:0040283	ORPHA:896
5077	PAX3	HP:0001249	Intellectual disability	5/7	OMIM:615777
5077	PAX3	HP:0001263	Global developmental delay	-	OMIM:615777
5077	PAX3	HP:0001258	Spastic paraplegia	HP:0040283	ORPHA:896
5077	PAX3	HP:0001258	Spastic paraplegia	-	OMIM:148820
5077	PAX3	HP:0007443	Partial albinism	-	OMIM:193500
5077	PAX3	HP:0007443	Partial albinism	2/2	OMIM:148820
5077	PAX3	HP:0002515	Waddling gait	54/102	OMIM:131300
5077	PAX3	HP:0001387	Joint stiffness	HP:0040281	ORPHA:896
5077	PAX3	HP:0001382	Joint hypermobility	-	OMIM:615777
5077	PAX3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5077	PAX3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5077	PAX3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5077	PAX3	HP:0001324	Muscle weakness	40/96	OMIM:131300
5077	PAX3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5077	PAX3	HP:0000007	Autosomal recessive inheritance	-	OMIM:148820
5077	PAX3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5077	PAX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:122880
5077	PAX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:148820
5077	PAX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:193500
5077	PAX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5077	PAX3	HP:0002650	Scoliosis	HP:0040283	ORPHA:894
5077	PAX3	HP:0002650	Scoliosis	12/14	OMIM:131300
5077	PAX3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5077	PAX3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5077	PAX3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5077	PAX3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5077	PAX3	HP:0000160	Narrow mouth	HP:0040281	ORPHA:1529
5077	PAX3	HP:0000175	Cleft palate	HP:0040283	ORPHA:894
5077	PAX3	HP:0000175	Cleft palate	2/7	OMIM:615777
5077	PAX3	HP:0002779	Tracheomalacia	HP:0040283	ORPHA:896
5077	PAX3	HP:0001442	Typified by somatic mosaicism	-	OMIM:268220
5077	PAX3	HP:0003388	Easy fatigability	36/76	OMIM:131300
5077	PAX3	HP:0009465	Ulnar deviation of finger	HP:0040281	ORPHA:1529
5077	PAX3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5077	PAX3	HP:0009487	Ulnar deviation of the hand	-	OMIM:122880
5077	PAX3	HP:0009473	Joint contracture of the hand	-	OMIM:148820
5077	PAX3	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:1529
5077	PAX3	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:896
5077	PAX3	HP:0100490	Camptodactyly of finger	-	OMIM:148820
5077	PAX3	HP:0010554	Cutaneous finger syndactyly	-	OMIM:148820
5077	PAX3	HP:0010554	Cutaneous finger syndactyly	HP:0040281	ORPHA:896
5077	PAX3	HP:0003577	Congenital onset	2/2	OMIM:148820
5077	PAX3	HP:0002251	Aganglionic megacolon	-	OMIM:148820
5077	PAX3	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:894
5077	PAX3	HP:0002216	Premature graying of hair	HP:0040282	ORPHA:894
5077	PAX3	HP:0002216	Premature graying of hair	3/5	OMIM:193500
5077	PAX3	HP:0002216	Premature graying of hair	1/1	OMIM:148820
5077	PAX3	HP:0002227	White eyelashes	HP:0040281	ORPHA:894
5077	PAX3	HP:0002227	White eyelashes	-	OMIM:193500
5077	PAX3	HP:0002227	White eyelashes	2/2	OMIM:148820
5077	PAX3	HP:0002226	White eyebrow	HP:0040281	ORPHA:894
5077	PAX3	HP:0002226	White eyebrow	-	OMIM:193500
5077	PAX3	HP:0002226	White eyebrow	2/2	OMIM:148820
5077	PAX3	HP:0002211	White forelock	HP:0040281	ORPHA:894
5077	PAX3	HP:0002211	White forelock	3/8	OMIM:193500
5077	PAX3	HP:0002211	White forelock	-	OMIM:148820
5077	PAX3	HP:0009702	Carpal synostosis	-	OMIM:148820
5077	PAX3	HP:0100750	Atelectasis	HP:0040282	ORPHA:896
5077	PAX3	HP:0003510	Severe short stature	7/7	OMIM:615777
5077	PAX3	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:894
5077	PAX3	HP:0001053	Hypopigmented skin patches	-	OMIM:148820
5077	PAX3	HP:0001063	Acrocyanosis	HP:0040283	ORPHA:896
5077	PAX3	HP:0001060	Axillary pterygium	1/2	OMIM:148820
5077	PAX3	HP:0003691	Scapular winging	-	OMIM:148820
5077	PAX3	HP:0002315	Headache	-	OMIM:131300
5077	PAX3	HP:0004976	Knee dislocation	6/7	OMIM:615777
5077	PAX3	HP:0008527	Congenital sensorineural hearing impairment	HP:0040281	ORPHA:894
5077	PAX3	HP:0008527	Congenital sensorineural hearing impairment	1/3	OMIM:193500
5077	PAX3	HP:0010804	Tented upper lip vermilion	HP:0040281	ORPHA:896
5077	PAX3	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:894
5077	PAX3	HP:0009803	Short phalanx of finger	-	OMIM:615777
5077	PAX3	HP:0009763	Limb pain	63/92	OMIM:131300
5077	PAX3	HP:0003621	Juvenile onset	-	OMIM:131300
5077	PAX3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5077	PAX3	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:894
5077	PAX3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5077	PAX3	HP:0000635	Blue irides	7/8	OMIM:193500
5077	PAX3	HP:0000635	Blue irides	1/1	OMIM:148820
5077	PAX3	HP:0000632	Lacrimation abnormality	HP:0040281	ORPHA:894
5077	PAX3	HP:6001056	Out-toeing	-	OMIM:131300
5077	PAX3	HP:0000651	Diplopia	-	OMIM:131300
5077	PAX3	HP:0001956	Truncal obesity	2/7	OMIM:615777
5077	PAX3	HP:0001903	Anemia	HP:0040283	OMIM:131300
5077	PAX3	HP:0010049	Short metacarpal	-	OMIM:615777
5077	PAX3	HP:0011364	White hair	HP:0040281	ORPHA:894
5077	PAX3	HP:0011364	White hair	HP:0040282	ORPHA:896
5077	PAX3	HP:0000678	Dental crowding	-	OMIM:615777
5077	PAX3	HP:0000670	Carious teeth	-	OMIM:131300
5077	PAX3	HP:0011304	Broad thumb	2/7	OMIM:615777
5077	PAX3	HP:0000668	Hypodontia	-	OMIM:615777
5077	PAX3	HP:0000664	Synophrys	8/8	OMIM:193500
5077	PAX3	HP:0000664	Synophrys	-	OMIM:615777
5077	PAX3	HP:0000664	Synophrys	-	OMIM:148820
5077	PAX3	HP:0000664	Synophrys	HP:0040282	ORPHA:894
5077	PAX3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:894
5077	PAX3	HP:0004396	Poor appetite	-	OMIM:131300
5077	PAX3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5077	PAX3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5077	PAX3	HP:0003049	Ulnar deviation of the wrist	HP:0040281	ORPHA:1529
5077	PAX3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5077	PAX3	HP:0003026	Short long bone	7/7	OMIM:615777
5077	PAX3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5077	PAX3	HP:0003019	Abnormality of the wrist	HP:0040281	ORPHA:1529
5077	PAX3	HP:0012745	Short palpebral fissure	2/2	OMIM:148820
5077	PAX3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5077	PAX3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5077	PAX3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5077	PAX3	HP:0000750	Delayed speech and language development	-	OMIM:615777
5077	PAX3	HP:0012785	Flexion contracture of finger	2/2	OMIM:148820
5077	PAX3	HP:0011461	Fetal onset	7/7	OMIM:615777
5077	PAX3	HP:0000774	Narrow chest	2/7	OMIM:615777
5077	PAX3	HP:0009129	Upper limb amyotrophy	1/2	OMIM:148820
5077	PAX3	HP:0003196	Short nose	HP:0040281	ORPHA:1529
5077	PAX3	HP:0003196	Short nose	HP:0040281	ORPHA:894
5077	PAX3	HP:0003196	Short nose	-	OMIM:122880
5077	PAX3	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:894
5077	PAX3	HP:0000912	Sprengel anomaly	-	OMIM:193500
5077	PAX3	HP:0000926	Platyspondyly	1/7	OMIM:615777
5077	PAX3	HP:0003180	Flat acetabular roof	-	OMIM:615777
5077	PAX3	HP:0004482	Relative macrocephaly	-	OMIM:615777
5077	PAX3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5077	PAX3	HP:0000823	Delayed puberty	-	OMIM:131300
5077	PAX3	HP:0000894	Short clavicles	-	OMIM:615777
5077	PAX3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5077	PAX3	HP:0003250	Aplasia of the vagina	-	OMIM:193500
5077	PAX3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5077	PAX3	HP:0005815	Supernumerary ribs	-	OMIM:193500
5077	PAX3	HP:0000286	Epicanthus	1/7	OMIM:615777
5077	PAX3	HP:0000280	Coarse facial features	2/7	OMIM:615777
5077	PAX3	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:894
5077	PAX3	HP:0000275	Narrow face	HP:0040281	ORPHA:1529
5077	PAX3	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:896
5077	PAX3	HP:0000272	Malar flattening	-	OMIM:122880
5077	PAX3	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:896
5077	PAX3	HP:0002827	Hip dislocation	3/7	OMIM:615777
5077	PAX3	HP:0030084	Clinodactyly	-	OMIM:148820
5077	PAX3	HP:0005048	Synostosis of carpal bones	HP:0040281	ORPHA:896
5077	PAX3	HP:0000252	Microcephaly	-	OMIM:148820
5077	PAX3	HP:0000252	Microcephaly	HP:0040281	ORPHA:896
5077	PAX3	HP:0000252	Microcephaly	-	OMIM:615777
5077	PAX3	HP:0002857	Genu valgum	-	OMIM:131300
5077	PAX3	HP:0000202	Orofacial cleft	-	OMIM:193500
5077	PAX3	HP:0001533	Slender build	-	OMIM:131300
5077	PAX3	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:894
5077	PAX3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5077	PAX3	HP:0007807	Optic nerve compression	-	OMIM:131300
5077	PAX3	HP:0012368	Flat face	HP:0040281	ORPHA:1529
5077	PAX3	HP:0012368	Flat face	7/7	OMIM:615777
5077	PAX3	HP:0012368	Flat face	-	OMIM:122880
5077	PAX3	HP:0007894	Hypopigmentation of the fundus	-	OMIM:193500
5077	PAX3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5077	PAX3	HP:0002946	Supernumerary vertebrae	-	OMIM:193500
5077	PAX3	HP:0000365	Hearing impairment	HP:0040281	ORPHA:896
5077	PAX3	HP:0000365	Hearing impairment	HP:0040281	ORPHA:894
5077	PAX3	HP:0000365	Hearing impairment	10/67	OMIM:131300
5077	PAX3	HP:0000358	Posteriorly rotated ears	1/1	OMIM:148820
5077	PAX3	HP:0000343	Long philtrum	1/7	OMIM:615777
5077	PAX3	HP:0011001	Increased bone mineral density	-	OMIM:131300
5077	PAX3	HP:0000319	Smooth philtrum	-	OMIM:193500
5077	PAX3	HP:0000316	Hypertelorism	-	OMIM:122880
5077	PAX3	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1529
5077	PAX3	HP:0000316	Hypertelorism	-	OMIM:193500
5077	PAX3	HP:0000311	Round face	2/7	OMIM:615777
5077	PAX3	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:1529
5077	PAX3	HP:0000327	Hypoplasia of the maxilla	-	OMIM:122880
5077	PAX3	HP:0002970	Genu varum	-	OMIM:615777
5077	PAX3	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:896
5077	PAX3	HP:0000303	Mandibular prognathia	-	OMIM:131300
5077	PAX3	HP:0000303	Mandibular prognathia	-	OMIM:193500
5077	PAX3	HP:0000303	Mandibular prognathia	-	OMIM:148820
5077	PAX3	HP:0000303	Mandibular prognathia	HP:0040281	ORPHA:894
5077	PAX3	HP:0007990	Hypoplastic iris stroma	-	OMIM:193500
5077	PAX3	HP:0000407	Sensorineural hearing impairment	-	OMIM:148820
5077	PAX3	HP:0000407	Sensorineural hearing impairment	-	OMIM:122880
5077	PAX3	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:1529
5077	PAX3	HP:0005274	Prominent nasal tip	1/1	OMIM:148820
5077	PAX3	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:1529
5077	PAX3	HP:0005280	Depressed nasal bridge	-	OMIM:122880
5077	PAX3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5077	PAX3	HP:0000486	Strabismus	HP:0040283	ORPHA:894
5077	PAX3	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:894
5077	PAX3	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:1529
5077	PAX3	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:896
5077	PAX3	HP:0000494	Downslanted palpebral fissures	-	OMIM:122880
5077	PAX3	HP:0012453	Bilateral wrist flexion contracture	2/2	OMIM:148820
5077	PAX3	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:1529
5077	PAX3	HP:0000470	Short neck	1/7	OMIM:615777
5077	PAX3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5077	PAX3	HP:0001763	Pes planus	1/7	OMIM:615777
5077	PAX3	HP:0000446	Narrow nasal bridge	HP:0040281	ORPHA:896
5077	PAX3	HP:0000431	Wide nasal bridge	8/8	OMIM:193500
5077	PAX3	HP:0000431	Wide nasal bridge	-	OMIM:148820
5077	PAX3	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:894
5077	PAX3	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:894
5077	PAX3	HP:0000430	Underdeveloped nasal alae	-	OMIM:193500
5077	PAX3	HP:0000426	Prominent nasal bridge	2/2	OMIM:148820
5077	PAX3	HP:0006779	Alveolar rhabdomyosarcoma	-	OMIM:268220
5077	PAX3	HP:0001840	Metatarsus adductus	-	OMIM:615777
5077	PAX3	HP:0000520	Proptosis	2/4	OMIM:131300
5077	PAX3	HP:0000520	Proptosis	7/7	OMIM:615777
5077	PAX3	HP:0000506	Telecanthus	3/3	OMIM:193500
5077	PAX3	HP:0000506	Telecanthus	HP:0040282	ORPHA:896
5077	PAX3	HP:0000506	Telecanthus	2/2	OMIM:148820
5077	PAX3	HP:0000506	Telecanthus	HP:0040281	ORPHA:894
5077	PAX3	HP:0000506	Telecanthus	-	OMIM:122880
5077	PAX3	HP:0000508	Ptosis	HP:0040283	ORPHA:894
5077	PAX3	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:894
5077	PAX3	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:1529
5077	PAX3	HP:0000581	Blepharophimosis	-	OMIM:193500
5077	PAX3	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:896
5077	PAX3	HP:0000581	Blepharophimosis	-	OMIM:148820
5077	PAX3	HP:0000592	Blue sclerae	2/7	OMIM:615777
5077	PAX3	HP:0000574	Thick eyebrow	-	OMIM:193500
5077	PAX3	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:896
5077	PAX3	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:894
5077	PAX3	HP:0000564	Lacrimal duct atresia	HP:0040281	ORPHA:1529
5077	PAX3	HP:0000537	Epicanthus inversus	1/1	OMIM:148820
5077	PAX3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5077	PAX3	HP:0012514	Lower limb pain	4/4	OMIM:131300
5078	PAX4	HP:0002594	Pancreatic hypoplasia	HP:0040284	ORPHA:552
5078	PAX4	HP:0032368	Acidemia	1/1	OMIM:612225
5078	PAX4	HP:0000077	Abnormality of the kidney	HP:0040284	ORPHA:552
5078	PAX4	HP:0012028	Hepatocellular adenoma	HP:0040284	ORPHA:552
5078	PAX4	HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	0/1	OMIM:612225
5078	PAX4	HP:0000007	Autosomal recessive inheritance	-	OMIM:612227
5078	PAX4	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
5078	PAX4	HP:0000006	Autosomal dominant inheritance	-	OMIM:612225
5078	PAX4	HP:0000006	Autosomal dominant inheritance	-	OMIM:612227
5078	PAX4	HP:0006279	Beta-cell dysfunction	-	OMIM:612227
5078	PAX4	HP:0000119	Abnormality of the genitourinary system	HP:0040284	ORPHA:552
5078	PAX4	HP:0001426	Non-Mendelian inheritance	-	OMIM:612227
5078	PAX4	HP:0000112	Nephropathy	HP:0040283	ORPHA:552
5078	PAX4	HP:0000107	Renal cyst	HP:0040284	ORPHA:552
5078	PAX4	HP:0000103	Polyuria	1/1	OMIM:612225
5078	PAX4	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
5078	PAX4	HP:0008255	Transient neonatal diabetes mellitus	HP:0040283	ORPHA:552
5078	PAX4	HP:0003584	Late onset	-	OMIM:125853
5078	PAX4	HP:0004924	Abnormal oral glucose tolerance	HP:0040282	ORPHA:552
5078	PAX4	HP:0004904	Maturity-onset diabetes of the young	11/11	OMIM:612225
5078	PAX4	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
5078	PAX4	HP:0001959	Polydipsia	1/1	OMIM:612225
5078	PAX4	HP:0001953	Diabetic ketoacidosis	-	ORPHA:552
5078	PAX4	HP:0001952	Glucose intolerance	HP:0040282	ORPHA:552
5078	PAX4	HP:0001993	Ketoacidosis	-	OMIM:612227
5078	PAX4	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:552
5078	PAX4	HP:0003076	Glycosuria	HP:0040282	ORPHA:552
5078	PAX4	HP:0003074	Hyperglycemia	HP:0040282	ORPHA:552
5078	PAX4	HP:0003074	Hyperglycemia	1/1	OMIM:612225
5078	PAX4	HP:0011462	Young adult onset	1/1	OMIM:612225
5078	PAX4	HP:0030794	Abnormal circulating C-peptide concentration	HP:0040282	ORPHA:552
5078	PAX4	HP:0000855	Insulin resistance	-	OMIM:125853
5078	PAX4	HP:0000855	Insulin resistance	-	OMIM:612227
5078	PAX4	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040283	ORPHA:552
5078	PAX4	HP:0000819	Diabetes mellitus	-	OMIM:612227
5078	PAX4	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040283	ORPHA:552
5078	PAX4	HP:0040214	Abnormal circulating insulin concentration	HP:0040282	ORPHA:552
5078	PAX4	HP:0040217	Elevated hemoglobin A1c	HP:0040282	ORPHA:552
5078	PAX4	HP:0040217	Elevated hemoglobin A1c	1/1	OMIM:612225
5078	PAX4	HP:0040216	Hypoinsulinemia	HP:0040282	ORPHA:552
5078	PAX4	HP:0040216	Hypoinsulinemia	1/1	OMIM:612225
5078	PAX4	HP:0000956	Acanthosis nigricans	-	ORPHA:552
5078	PAX4	HP:0030057	Autoimmune antibody positivity	-	ORPHA:552
5078	PAX4	HP:0025502	Overweight	HP:0040283	ORPHA:552
5078	PAX4	HP:0001520	Large for gestational age	HP:0040283	ORPHA:552
5078	PAX4	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:552
5078	PAX4	HP:0001513	Obesity	HP:0040284	ORPHA:552
5078	PAX4	HP:0002919	Ketonuria	1/1	OMIM:612225
5078	PAX4	HP:0002960	Autoimmunity	-	OMIM:612227
5078	PAX4	HP:0001738	Exocrine pancreatic insufficiency	HP:0040284	ORPHA:552
5078	PAX4	HP:0000488	Retinopathy	HP:0040283	ORPHA:552
5080	PAX6	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5080	PAX6	HP:0001104	Macular hypoplasia	HP:0040282	ORPHA:2334
5080	PAX6	HP:0010923	Anterior subcapsular cataract	1/1	OMIM:106210
5080	PAX6	HP:0009918	Ectopia pupillae	1/1	OMIM:106210
5080	PAX6	HP:0007299	Dysfunction of lateral corticospinal tracts	HP:0040283	ORPHA:893
5080	PAX6	HP:0001252	Hypotonia	HP:0040282	ORPHA:1065
5080	PAX6	HP:0001251	Ataxia	HP:0040281	ORPHA:1065
5080	PAX6	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1065
5080	PAX6	HP:0001249	Intellectual disability	HP:0040282	OMIM:194072
5080	PAX6	HP:0001249	Intellectual disability	HP:0040282	ORPHA:893
5080	PAX6	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1065
5080	PAX6	HP:0007440	Generalized hyperpigmentation	HP:0040281	ORPHA:2253
5080	PAX6	HP:0000083	Renal insufficiency	10/46	OMIM:194072
5080	PAX6	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:893
5080	PAX6	HP:0000076	Vesicoureteral reflux	-	OMIM:120200
5080	PAX6	HP:0025348	Abnormal corneal limbus morphology	HP:0040282	ORPHA:2334
5080	PAX6	HP:0000047	Hypospadias	HP:0040282	OMIM:194072
5080	PAX6	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:893
5080	PAX6	HP:0000028	Cryptorchidism	HP:0040282	OMIM:194072
5080	PAX6	HP:0031159	Thinning of Descemet membrane	HP:0040281	ORPHA:708
5080	PAX6	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5080	PAX6	HP:0002667	Nephroblastoma	HP:0040282	OMIM:194072
5080	PAX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:120200
5080	PAX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:136520
5080	PAX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5080	PAX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:120430
5080	PAX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:106210
5080	PAX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:604229
5080	PAX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:148190
5080	PAX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:165550
5080	PAX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:194072
5080	PAX6	HP:0033743	Macular agenesis	1/9	OMIM:106210
5080	PAX6	HP:0002650	Scoliosis	HP:0040283	ORPHA:893
5080	PAX6	HP:0001488	Bilateral ptosis	1/1	OMIM:106210
5080	PAX6	HP:0000142	Abnormal vagina morphology	HP:0040282	OMIM:194072
5080	PAX6	HP:0001466	Contiguous gene syndrome	-	OMIM:194072
5080	PAX6	HP:0000150	Gonadoblastoma	HP:0040283	OMIM:194072
5080	PAX6	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5080	PAX6	HP:0007676	Hypoplasia of the iris	HP:0040281	ORPHA:250923
5080	PAX6	HP:0007676	Hypoplasia of the iris	-	OMIM:604229
5080	PAX6	HP:0007676	Hypoplasia of the iris	1/1	OMIM:106210
5080	PAX6	HP:0007663	Reduced visual acuity	8/8	OMIM:165550
5080	PAX6	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5080	PAX6	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:2334
5080	PAX6	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:250923
5080	PAX6	HP:0007663	Reduced visual acuity	-	OMIM:120200
5080	PAX6	HP:0007663	Reduced visual acuity	-	OMIM:604229
5080	PAX6	HP:0007633	Bilateral microphthalmos	HP:0040283	ORPHA:2334
5080	PAX6	HP:0000130	Abnormality of the uterus	HP:0040283	OMIM:194072
5080	PAX6	HP:0000112	Nephropathy	40%	OMIM:194072
5080	PAX6	HP:0001442	Typified by somatic mosaicism	-	OMIM:194072
5080	PAX6	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:106210
5080	PAX6	HP:0030961	Microspherophakia	HP:0040284	ORPHA:250923
5080	PAX6	HP:0010464	Streak ovary	HP:0040282	OMIM:194072
5080	PAX6	HP:0002119	Ventriculomegaly	-	OMIM:120200
5080	PAX6	HP:0002126	Polymicrogyria	-	OMIM:106210
5080	PAX6	HP:0002168	Scanning speech	HP:0040282	ORPHA:1065
5080	PAX6	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:1065
5080	PAX6	HP:0003577	Congenital onset	9/9	OMIM:106210
5080	PAX6	HP:0100719	Lens coloboma	HP:0040284	ORPHA:250923
5080	PAX6	HP:0200020	Corneal erosion	1/1	OMIM:106210
5080	PAX6	HP:0001097	Keratoconjunctivitis sicca	HP:0040282	ORPHA:250923
5080	PAX6	HP:0100627	Displacement of the urethral meatus	HP:0040282	ORPHA:893
5080	PAX6	HP:0001087	Developmental glaucoma	HP:0040282	ORPHA:708
5080	PAX6	HP:0001083	Ectopia lentis	HP:0040282	ORPHA:250923
5080	PAX6	HP:0001083	Ectopia lentis	1/9	OMIM:106210
5080	PAX6	HP:0003621	Juvenile onset	8/19	OMIM:180100
5080	PAX6	HP:0032107	Limbal stem cell deficiency	HP:0040282	ORPHA:2334
5080	PAX6	HP:0032107	Limbal stem cell deficiency	HP:0040282	ORPHA:250923
5080	PAX6	HP:0031883	Increased proinsulin:insulin ratio	-	OMIM:106210
5080	PAX6	HP:0000639	Nystagmus	-	OMIM:120200
5080	PAX6	HP:0000639	Nystagmus	8/10	OMIM:106210
5080	PAX6	HP:0000639	Nystagmus	HP:0040283	ORPHA:35737
5080	PAX6	HP:0000639	Nystagmus	HP:0040282	ORPHA:893
5080	PAX6	HP:0000639	Nystagmus	HP:0040284	ORPHA:708
5080	PAX6	HP:0000639	Nystagmus	4/8	OMIM:165550
5080	PAX6	HP:0000639	Nystagmus	HP:0040281	ORPHA:2253
5080	PAX6	HP:0000639	Nystagmus	HP:0040281	ORPHA:250923
5080	PAX6	HP:0000639	Nystagmus	-	OMIM:604229
5080	PAX6	HP:0000646	Amblyopia	HP:0040281	ORPHA:35737
5080	PAX6	HP:0000648	Optic atrophy	HP:0040281	ORPHA:2253
5080	PAX6	HP:0000647	Sclerocornea	-	OMIM:604229
5080	PAX6	HP:0000642	Red-green dyschromatopsia	HP:0040282	ORPHA:250923
5080	PAX6	HP:0000613	Photophobia	HP:0040283	ORPHA:250923
5080	PAX6	HP:0000627	Posterior embryotoxon	-	OMIM:604229
5080	PAX6	HP:0001952	Glucose intolerance	-	OMIM:106210
5080	PAX6	HP:0000609	Optic nerve hypoplasia	4/8	OMIM:165550
5080	PAX6	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:250923
5080	PAX6	HP:0000609	Optic nerve hypoplasia	-	OMIM:106210
5080	PAX6	HP:0030468	Abnormal multifocal electroretinogram	HP:0040282	ORPHA:250923
5080	PAX6	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:250923
5080	PAX6	HP:0000662	Nyctalopia	26/28	OMIM:180100
5080	PAX6	HP:0000659	Peters anomaly	HP:0040282	ORPHA:250923
5080	PAX6	HP:0000659	Peters anomaly	HP:0040280	ORPHA:708
5080	PAX6	HP:0000659	Peters anomaly	-	OMIM:604229
5080	PAX6	HP:0000659	Peters anomaly	-	OMIM:120200
5080	PAX6	HP:0004322	Short stature	HP:0040282	ORPHA:893
5080	PAX6	HP:0030622	Abnormal foveal pit on macular OCT	HP:0040282	ORPHA:250923
5080	PAX6	HP:0006934	Congenital nystagmus	-	OMIM:136520
5080	PAX6	HP:0006934	Congenital nystagmus	HP:0040283	ORPHA:2334
5080	PAX6	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:1065
5080	PAX6	HP:0011493	Central opacification of the cornea	HP:0040281	ORPHA:708
5080	PAX6	HP:0011496	Corneal neovascularization	HP:0040282	ORPHA:250923
5080	PAX6	HP:0011496	Corneal neovascularization	HP:0040282	ORPHA:2334
5080	PAX6	HP:0011496	Corneal neovascularization	5/10	OMIM:106210
5080	PAX6	HP:0011483	Anterior synechiae of the anterior chamber	-	OMIM:604229
5080	PAX6	HP:0011483	Anterior synechiae of the anterior chamber	HP:0040281	ORPHA:708
5080	PAX6	HP:0011463	Childhood onset	3/19	OMIM:180100
5080	PAX6	HP:0011462	Young adult onset	8/19	OMIM:180100
5080	PAX6	HP:0004414	Abnormality of the pulmonary artery	HP:0040283	ORPHA:1065
5080	PAX6	HP:0012841	Retinal vascular tortuosity	1/1	OMIM:106210
5080	PAX6	HP:0040030	Chorioretinal hypopigmentation	1/1	OMIM:106210
5080	PAX6	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040281	ORPHA:893
5080	PAX6	HP:0008059	Aplasia/Hypoplasia of the macula	HP:0040281	ORPHA:250923
5080	PAX6	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:35737
5080	PAX6	HP:0000298	Mask-like facies	HP:0040281	ORPHA:1065
5080	PAX6	HP:0007759	Opacification of the corneal stroma	HP:0040282	ORPHA:2334
5080	PAX6	HP:0007759	Opacification of the corneal stroma	HP:0040281	ORPHA:708
5080	PAX6	HP:0007759	Opacification of the corneal stroma	-	OMIM:148190
5080	PAX6	HP:0007759	Opacification of the corneal stroma	-	OMIM:106210
5080	PAX6	HP:0007750	Hypoplasia of the fovea	HP:0040281	ORPHA:250923
5080	PAX6	HP:0007750	Hypoplasia of the fovea	HP:0040282	ORPHA:2334
5080	PAX6	HP:0007750	Hypoplasia of the fovea	-	OMIM:136520
5080	PAX6	HP:0007750	Hypoplasia of the fovea	-	OMIM:604229
5080	PAX6	HP:0007750	Hypoplasia of the fovea	11/11	OMIM:106210
5080	PAX6	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5080	PAX6	HP:0000252	Microcephaly	HP:0040282	ORPHA:893
5080	PAX6	HP:0025514	Morning glory anomaly	1/8	OMIM:165550
5080	PAX6	HP:0025514	Morning glory anomaly	-	OMIM:120200
5080	PAX6	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:893
5080	PAX6	HP:0001510	Growth delay	-	OMIM:120200
5080	PAX6	HP:0001513	Obesity	4/20	OMIM:194072
5080	PAX6	HP:0001513	Obesity	HP:0040283	ORPHA:893
5080	PAX6	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5080	PAX6	HP:0007819	Presenile cataracts	-	OMIM:136520
5080	PAX6	HP:0007894	Hypopigmentation of the fundus	HP:0040282	ORPHA:250923
5080	PAX6	HP:0000364	Hearing abnormality	HP:0040282	ORPHA:893
5080	PAX6	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:1065
5080	PAX6	HP:0000347	Micrognathia	HP:0040282	ORPHA:893
5080	PAX6	HP:0007957	Corneal opacity	HP:0040282	ORPHA:250923
5080	PAX6	HP:0007957	Corneal opacity	-	OMIM:120200
5080	PAX6	HP:0007990	Hypoplastic iris stroma	HP:0040282	ORPHA:2334
5080	PAX6	HP:0007968	Remnants of the hyaloid vascular system	2/8	OMIM:165550
5080	PAX6	HP:0007968	Remnants of the hyaloid vascular system	-	OMIM:120200
5080	PAX6	HP:0000486	Strabismus	4/10	OMIM:106210
5080	PAX6	HP:0000486	Strabismus	HP:0040281	ORPHA:35737
5080	PAX6	HP:0000486	Strabismus	HP:0040284	ORPHA:708
5080	PAX6	HP:0000486	Strabismus	HP:0040282	ORPHA:2253
5080	PAX6	HP:0000486	Strabismus	HP:0040282	ORPHA:250923
5080	PAX6	HP:0000486	Strabismus	-	OMIM:604229
5080	PAX6	HP:0000482	Microcornea	HP:0040283	ORPHA:2334
5080	PAX6	HP:0000482	Microcornea	-	OMIM:604229
5080	PAX6	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:2253
5080	PAX6	HP:0000491	Keratitis	HP:0040280	ORPHA:2334
5080	PAX6	HP:0000491	Keratitis	-	OMIM:148190
5080	PAX6	HP:0000518	Cataract	HP:0040283	ORPHA:35737
5080	PAX6	HP:0000518	Cataract	HP:0040282	ORPHA:893
5080	PAX6	HP:0000518	Cataract	HP:0040281	ORPHA:2253
5080	PAX6	HP:0000518	Cataract	2/9	OMIM:106210
5080	PAX6	HP:0000518	Cataract	HP:0040283	ORPHA:2334
5080	PAX6	HP:0000518	Cataract	HP:0040282	ORPHA:250923
5080	PAX6	HP:0000519	Developmental cataract	-	OMIM:604229
5080	PAX6	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5080	PAX6	HP:0000526	Aniridia	HP:0040281	ORPHA:250923
5080	PAX6	HP:0000526	Aniridia	HP:0040283	ORPHA:2334
5080	PAX6	HP:0000526	Aniridia	HP:0040281	ORPHA:1065
5080	PAX6	HP:0000526	Aniridia	HP:0040281	OMIM:194072
5080	PAX6	HP:0000526	Aniridia	19/19	OMIM:106210
5080	PAX6	HP:0000523	Subcapsular cataract	HP:0040281	ORPHA:708
5080	PAX6	HP:0000508	Ptosis	6/10	OMIM:106210
5080	PAX6	HP:0000508	Ptosis	HP:0040282	ORPHA:893
5080	PAX6	HP:0000508	Ptosis	HP:0040283	ORPHA:250923
5080	PAX6	HP:0000505	Visual impairment	-	OMIM:136520
5080	PAX6	HP:0000505	Visual impairment	HP:0040282	ORPHA:893
5080	PAX6	HP:0000505	Visual impairment	8/8	OMIM:165550
5080	PAX6	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:2253
5080	PAX6	HP:0000501	Glaucoma	7/19	OMIM:106210
5080	PAX6	HP:0000501	Glaucoma	HP:0040282	ORPHA:250923
5080	PAX6	HP:0000501	Glaucoma	HP:0040283	ORPHA:893
5080	PAX6	HP:0000501	Glaucoma	-	OMIM:604229
5080	PAX6	HP:0000575	Scotoma	5/18	OMIM:180100
5080	PAX6	HP:0000577	Exotropia	1/1	OMIM:106210
5080	PAX6	HP:0000589	Coloboma	HP:0040283	ORPHA:2334
5080	PAX6	HP:0000588	Optic disc coloboma	HP:0040283	ORPHA:35737
5080	PAX6	HP:0000588	Optic disc coloboma	-	OMIM:120430
5080	PAX6	HP:0000588	Optic disc coloboma	-	OMIM:120200
5080	PAX6	HP:0000558	Rieger anomaly	-	OMIM:604229
5080	PAX6	HP:0000572	Visual loss	HP:0040281	ORPHA:250923
5080	PAX6	HP:0000568	Microphthalmia	HP:0040283	ORPHA:250923
5080	PAX6	HP:0000568	Microphthalmia	-	OMIM:120200
5080	PAX6	HP:0000568	Microphthalmia	-	OMIM:604229
5080	PAX6	HP:0000567	Chorioretinal coloboma	-	OMIM:120200
5080	PAX6	HP:0000541	Retinal detachment	HP:0040283	ORPHA:35737
5080	PAX6	HP:0000541	Retinal detachment	-	OMIM:120430
5080	PAX6	HP:0012521	Optic nerve aplasia	2/8	OMIM:165550
5080	PAX6	HP:0012521	Optic nerve aplasia	-	OMIM:120200
5080	PAX6	HP:0000539	Abnormality of refraction	HP:0040282	ORPHA:2334
5080	PAX6	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5080	PAX6	HP:0000545	Myopia	-	OMIM:180100
5081	PAX7	HP:0001290	Generalized hypotonia	3/5	OMIM:618578
5081	PAX7	HP:0001270	Motor delay	-	OMIM:618578
5081	PAX7	HP:0001288	Gait disturbance	4/5	OMIM:618578
5081	PAX7	HP:0001284	Areflexia	2/5	OMIM:618578
5081	PAX7	HP:0000028	Cryptorchidism	1/3	OMIM:618578
5081	PAX7	HP:0001324	Muscle weakness	-	OMIM:618578
5081	PAX7	HP:0000007	Autosomal recessive inheritance	-	OMIM:618578
5081	PAX7	HP:0002650	Scoliosis	-	OMIM:618578
5081	PAX7	HP:0008936	Axial hypotonia	4/5	OMIM:618578
5081	PAX7	HP:0000126	Hydronephrosis	1/5	OMIM:618578
5081	PAX7	HP:0001442	Typified by somatic mosaicism	-	OMIM:268220
5081	PAX7	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:618578
5081	PAX7	HP:0002015	Dysphagia	-	OMIM:618578
5081	PAX7	HP:0002093	Respiratory insufficiency	1/5	OMIM:618578
5081	PAX7	HP:0003202	Skeletal muscle atrophy	-	OMIM:618578
5081	PAX7	HP:0000297	Facial hypotonia	1/5	OMIM:618578
5081	PAX7	HP:0001591	Bell-shaped thorax	1/5	OMIM:618578
5081	PAX7	HP:0002803	Congenital contracture	1/4	OMIM:618578
5081	PAX7	HP:0000218	High palate	2/5	OMIM:618578
5081	PAX7	HP:0001558	Decreased fetal movement	1/5	OMIM:618578
5081	PAX7	HP:0000365	Hearing impairment	1/5	OMIM:618578
5081	PAX7	HP:0000358	Posteriorly rotated ears	1/5	OMIM:618578
5081	PAX7	HP:0000369	Low-set ears	1/5	OMIM:618578
5081	PAX7	HP:0000347	Micrognathia	1/5	OMIM:618578
5081	PAX7	HP:0000325	Triangular face	2/5	OMIM:618578
5081	PAX7	HP:0007979	Gaze-evoked horizontal nystagmus	1/5	OMIM:618578
5081	PAX7	HP:0000457	Depressed nasal ridge	1/5	OMIM:618578
5081	PAX7	HP:0006779	Alveolar rhabdomyosarcoma	-	OMIM:268220
5081	PAX7	HP:0000508	Ptosis	4/4	OMIM:618578
5081	PAX7	HP:0012585	Renal atrophy	1/5	OMIM:618578
5083	PAX9	HP:0001231	Abnormal fingernail morphology	0/5	OMIM:604625
5083	PAX9	HP:0000006	Autosomal dominant inheritance	-	OMIM:604625
5083	PAX9	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:99798
5083	PAX9	HP:0006344	Abnormal primary molar morphology	HP:0040283	ORPHA:99798
5083	PAX9	HP:0006336	Short dental root	HP:0040282	ORPHA:99798
5083	PAX9	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:99798
5083	PAX9	HP:0006289	Agenesis of central incisor	HP:0040282	ORPHA:99798
5083	PAX9	HP:0003621	Juvenile onset	-	OMIM:604625
5083	PAX9	HP:0000696	Delayed eruption of permanent teeth	HP:0040282	ORPHA:99798
5083	PAX9	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:99798
5083	PAX9	HP:0000679	Taurodontia	HP:0040283	ORPHA:99798
5083	PAX9	HP:0000677	Oligodontia	HP:0040280	ORPHA:99798
5083	PAX9	HP:0000677	Oligodontia	16/16	OMIM:604625
5083	PAX9	HP:0000691	Microdontia	HP:0040282	ORPHA:99798
5083	PAX9	HP:0000691	Microdontia	HP:0040283	OMIM:604625
5083	PAX9	HP:0000690	Agenesis of maxillary lateral incisor	HP:0040282	ORPHA:99798
5083	PAX9	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:99798
5083	PAX9	HP:0000685	Hypoplasia of teeth	HP:0040283	ORPHA:99798
5083	PAX9	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:99798
5083	PAX9	HP:0000970	Anhidrosis	0/5	OMIM:604625
5083	PAX9	HP:0001595	Abnormal hair morphology	0/5	OMIM:604625
5083	PAX9	HP:0012225	Oligodontia of primary teeth	0/16	OMIM:604625
5083	PAX9	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:99798
5083	PAX9	HP:0011078	Abnormality of canine	HP:0040283	ORPHA:99798
5083	PAX9	HP:0011053	Agenesis of mandibular premolar	HP:0040283	ORPHA:99798
5083	PAX9	HP:0011051	Agenesis of premolar	HP:0040282	ORPHA:99798
5083	PAX9	HP:0011056	Agenesis of first permanent molar tooth	HP:0040282	ORPHA:99798
5083	PAX9	HP:0011055	Agenesis of permanent molar	16/16	OMIM:604625
5083	PAX9	HP:0005216	Impaired mastication	HP:0040281	ORPHA:99798
5083	PAX9	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:99798
5083	PAX9	HP:0012472	Eclabion	HP:0040283	ORPHA:99798
5083	PAX9	HP:0011121	Abnormal skin morphology	0/5	OMIM:604625
5083	PAX9	HP:0011219	Short face	HP:0040283	ORPHA:99798
5087	PBX1	HP:0008589	Hypoplastic helices	-	OMIM:617641
5087	PBX1	HP:0008551	Microtia	-	OMIM:617641
5087	PBX1	HP:0001290	Generalized hypotonia	-	OMIM:617641
5087	PBX1	HP:0001270	Motor delay	-	OMIM:617641
5087	PBX1	HP:0001254	Lethargy	HP:0040283	ORPHA:97362
5087	PBX1	HP:0001263	Global developmental delay	2/5	OMIM:617641
5087	PBX1	HP:0000089	Renal hypoplasia	HP:0040281	ORPHA:97362
5087	PBX1	HP:0000089	Renal hypoplasia	3/5	OMIM:617641
5087	PBX1	HP:0000083	Renal insufficiency	HP:0040284	OMIM:617641
5087	PBX1	HP:0000086	Ectopic kidney	-	OMIM:617641
5087	PBX1	HP:0000085	Horseshoe kidney	1/5	OMIM:617641
5087	PBX1	HP:0000093	Proteinuria	HP:0040282	ORPHA:97362
5087	PBX1	HP:0000062	Ambiguous genitalia	-	OMIM:617641
5087	PBX1	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:97362
5087	PBX1	HP:0000076	Vesicoureteral reflux	-	OMIM:617641
5087	PBX1	HP:0000054	Micropenis	-	OMIM:617641
5087	PBX1	HP:0000028	Cryptorchidism	-	OMIM:617641
5087	PBX1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:97362
5087	PBX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617641
5087	PBX1	HP:0002643	Neonatal respiratory distress	HP:0040283	ORPHA:97362
5087	PBX1	HP:0002617	Vascular dilatation	-	OMIM:617641
5087	PBX1	HP:0025466	Beta 2-microglobulinuria	HP:0040283	ORPHA:97362
5087	PBX1	HP:0000122	Unilateral renal agenesis	1/5	OMIM:617641
5087	PBX1	HP:0000110	Renal dysplasia	-	OMIM:617641
5087	PBX1	HP:0000107	Renal cyst	HP:0040282	ORPHA:97362
5087	PBX1	HP:0000104	Renal agenesis	-	OMIM:617641
5087	PBX1	HP:0002002	Deep philtrum	-	OMIM:617641
5087	PBX1	HP:0002009	Potter facies	HP:0040282	ORPHA:97362
5087	PBX1	HP:0002093	Respiratory insufficiency	HP:0040284	OMIM:617641
5087	PBX1	HP:0100520	Oliguria	HP:0040283	ORPHA:97362
5087	PBX1	HP:0002153	Hyperkalemia	HP:0040283	ORPHA:97362
5087	PBX1	HP:0004719	Hyperechogenic kidneys	-	OMIM:617641
5087	PBX1	HP:0011968	Feeding difficulties	-	OMIM:617641
5087	PBX1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:97362
5087	PBX1	HP:0005564	Absence of renal corticomedullary differentiation	1/5	OMIM:617641
5087	PBX1	HP:0005563	Decreased numbers of nephrons	-	OMIM:617641
5087	PBX1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:97362
5087	PBX1	HP:0000639	Nystagmus	HP:0040283	ORPHA:97362
5087	PBX1	HP:0001942	Metabolic acidosis	HP:0040283	ORPHA:97362
5087	PBX1	HP:0001903	Anemia	HP:0040283	ORPHA:97362
5087	PBX1	HP:0001999	Abnormal facial shape	-	OMIM:617641
5087	PBX1	HP:0004322	Short stature	HP:0040283	ORPHA:97362
5087	PBX1	HP:0003076	Glycosuria	HP:0040283	ORPHA:97362
5087	PBX1	HP:0000750	Delayed speech and language development	-	OMIM:617641
5087	PBX1	HP:0000776	Congenital diaphragmatic hernia	-	OMIM:617641
5087	PBX1	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:97362
5087	PBX1	HP:0000822	Hypertension	HP:0040282	ORPHA:97362
5087	PBX1	HP:0040080	Anteverted ears	-	OMIM:617641
5087	PBX1	HP:0000969	Edema	HP:0040283	ORPHA:97362
5087	PBX1	HP:0000286	Epicanthus	-	OMIM:617641
5087	PBX1	HP:0000275	Narrow face	-	OMIM:617641
5087	PBX1	HP:0000276	Long face	-	OMIM:617641
5087	PBX1	HP:0012213	Decreased glomerular filtration rate	HP:0040282	ORPHA:97362
5087	PBX1	HP:0000219	Thin upper lip vermilion	-	OMIM:617641
5087	PBX1	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:97362
5087	PBX1	HP:0001562	Oligohydramnios	-	OMIM:617641
5087	PBX1	HP:0030037	Bifid ureter	-	OMIM:617641
5087	PBX1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:97362
5087	PBX1	HP:0001518	Small for gestational age	HP:0040283	ORPHA:97362
5087	PBX1	HP:0001510	Growth delay	HP:0040283	ORPHA:97362
5087	PBX1	HP:0001510	Growth delay	-	OMIM:617641
5087	PBX1	HP:0000377	Abnormal pinna morphology	-	OMIM:617641
5087	PBX1	HP:0000391	Thickened helices	-	OMIM:617641
5087	PBX1	HP:0002907	Microscopic hematuria	HP:0040283	ORPHA:97362
5087	PBX1	HP:0002902	Hyponatremia	HP:0040283	ORPHA:97362
5087	PBX1	HP:0000365	Hearing impairment	2/5	OMIM:617641
5087	PBX1	HP:0000369	Low-set ears	-	OMIM:617641
5087	PBX1	HP:0001627	Abnormal heart morphology	HP:0040284	OMIM:617641
5087	PBX1	HP:0001622	Premature birth	HP:0040283	ORPHA:97362
5087	PBX1	HP:0000483	Astigmatism	HP:0040283	ORPHA:97362
5087	PBX1	HP:0000486	Strabismus	-	OMIM:617641
5087	PBX1	HP:0000463	Anteverted nares	-	OMIM:617641
5087	PBX1	HP:0000431	Wide nasal bridge	-	OMIM:617641
5087	PBX1	HP:0000540	Hypermetropia	HP:0040283	ORPHA:97362
5091	PC	HP:0002415	Leukodystrophy	-	OMIM:266150
5091	PC	HP:0001250	Seizure	8/17	OMIM:266150
5091	PC	HP:0001252	Hypotonia	17/17	OMIM:266150
5091	PC	HP:0001249	Intellectual disability	-	OMIM:266150
5091	PC	HP:0001263	Global developmental delay	17/17	OMIM:266150
5091	PC	HP:0000007	Autosomal recessive inheritance	-	OMIM:266150
5091	PC	HP:0003348	Hyperalaninemia	-	OMIM:266150
5091	PC	HP:0002049	Proximal renal tubular acidosis	-	OMIM:266150
5091	PC	HP:0002151	Increased circulating lactate concentration	-	OMIM:266150
5091	PC	HP:0002169	Clonus	4/17	OMIM:266150
5091	PC	HP:0003593	Infantile onset	10/17	OMIM:266150
5091	PC	HP:0003577	Congenital onset	7/17	OMIM:266150
5091	PC	HP:0002240	Hepatomegaly	-	OMIM:266150
5091	PC	HP:0003542	Increased circulating pyruvate concentration	-	OMIM:266150
5091	PC	HP:0002305	Athetosis	4/17	OMIM:266150
5091	PC	HP:0007190	Neuronal loss in the cerebral cortex	-	OMIM:266150
5091	PC	HP:0001943	Hypoglycemia	4/17	OMIM:266150
5091	PC	HP:0006970	Periventricular leukomalacia	-	OMIM:266150
5091	PC	HP:0003128	Lactic acidosis	17/17	OMIM:266150
5092	PCBD1	HP:0033594	Elevated urinary 7-biopterin level	13/13	OMIM:264070
5092	PCBD1	HP:0001290	Generalized hypotonia	2/13	OMIM:264070
5092	PCBD1	HP:0001276	Hypertonia	-	OMIM:264070
5092	PCBD1	HP:0001276	Hypertonia	HP:0040283	ORPHA:1578
5092	PCBD1	HP:0001270	Motor delay	1/13	OMIM:264070
5092	PCBD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:264070
5092	PCBD1	HP:0001337	Tremor	-	OMIM:264070
5092	PCBD1	HP:0001337	Tremor	HP:0040283	ORPHA:1578
5092	PCBD1	HP:0001300	Parkinsonism	HP:0040284	ORPHA:1578
5092	PCBD1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:1578
5092	PCBD1	HP:0010553	Oculogyric crisis	HP:0040282	ORPHA:1578
5092	PCBD1	HP:0008297	Transient hyperphenylalaninemia	-	OMIM:264070
5092	PCBD1	HP:0004923	Hyperphenylalaninemia	-	OMIM:264070
5092	PCBD1	HP:0004923	Hyperphenylalaninemia	HP:0040281	ORPHA:1578
5092	PCBD1	HP:0004904	Maturity-onset diabetes of the young	HP:0040284	ORPHA:1578
5092	PCBD1	HP:0100021	Cerebral palsy	HP:0040284	ORPHA:1578
5092	PCBD1	HP:0000737	Irritability	HP:0040283	ORPHA:1578
5092	PCBD1	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:1578
5092	PCBD1	HP:0040206	Abnormal circulating neopterin concentration	HP:0040282	ORPHA:1578
5092	PCBD1	HP:0040210	Abnormal circulating biopterin concentration	HP:0040281	ORPHA:1578
5092	PCBD1	HP:0002917	Hypomagnesemia	HP:0040283	ORPHA:1578
5095	PCCA	HP:0001254	Lethargy	-	OMIM:606054
5095	PCCA	HP:0001250	Seizure	-	OMIM:606054
5095	PCCA	HP:0001249	Intellectual disability	HP:0040282	ORPHA:35
5095	PCCA	HP:0001263	Global developmental delay	HP:0040282	ORPHA:35
5095	PCCA	HP:0001263	Global developmental delay	20/20	OMIM:606054
5095	PCCA	HP:0001259	Coma	-	OMIM:606054
5095	PCCA	HP:0010978	Abnormality of immune system physiology	HP:0040282	ORPHA:35
5095	PCCA	HP:0002509	Limb hypertonia	-	OMIM:606054
5095	PCCA	HP:0008872	Feeding difficulties in infancy	-	OMIM:606054
5095	PCCA	HP:0001332	Dystonia	-	OMIM:606054
5095	PCCA	HP:0000007	Autosomal recessive inheritance	-	OMIM:606054
5095	PCCA	HP:0410066	Increased level of hippuric acid in urine	20/20	OMIM:606054
5095	PCCA	HP:0008936	Axial hypotonia	-	OMIM:606054
5095	PCCA	HP:0002789	Tachypnea	-	OMIM:606054
5095	PCCA	HP:0003353	Propionyl-CoA carboxylase deficiency	HP:0040281	ORPHA:35
5095	PCCA	HP:0003353	Propionyl-CoA carboxylase deficiency	-	OMIM:606054
5095	PCCA	HP:0002019	Constipation	-	OMIM:606054
5095	PCCA	HP:0002019	Constipation	HP:0040281	ORPHA:35
5095	PCCA	HP:0002013	Vomiting	-	OMIM:606054
5095	PCCA	HP:0002059	Cerebral atrophy	-	OMIM:606054
5095	PCCA	HP:0002154	Hyperglycinemia	-	OMIM:606054
5095	PCCA	HP:0002104	Apnea	-	OMIM:606054
5095	PCCA	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:35
5095	PCCA	HP:0002240	Hepatomegaly	-	OMIM:606054
5095	PCCA	HP:0006846	Acute encephalopathy	-	OMIM:606054
5095	PCCA	HP:0001944	Dehydration	-	OMIM:606054
5095	PCCA	HP:0001943	Hypoglycemia	-	OMIM:606054
5095	PCCA	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:35
5095	PCCA	HP:0001942	Metabolic acidosis	-	OMIM:606054
5095	PCCA	HP:0001903	Anemia	-	OMIM:606054
5095	PCCA	HP:0001992	Organic aciduria	HP:0040281	ORPHA:35
5095	PCCA	HP:0001987	Hyperammonemia	HP:0040281	ORPHA:35
5095	PCCA	HP:0001987	Hyperammonemia	-	OMIM:606054
5095	PCCA	HP:0004322	Short stature	-	OMIM:606054
5095	PCCA	HP:0004396	Poor appetite	-	OMIM:606054
5095	PCCA	HP:0003108	Hyperglycinuria	-	OMIM:606054
5095	PCCA	HP:0003128	Lactic acidosis	-	OMIM:606054
5095	PCCA	HP:0000964	Eczematoid dermatitis	-	OMIM:606054
5095	PCCA	HP:0000939	Osteoporosis	-	OMIM:606054
5095	PCCA	HP:0011695	Cerebellar hemorrhage	HP:0040283	OMIM:606054
5095	PCCA	HP:0011675	Arrhythmia	HP:0040282	ORPHA:35
5095	PCCA	HP:0001508	Failure to thrive	-	OMIM:606054
5095	PCCA	HP:0001638	Cardiomyopathy	-	OMIM:606054
5095	PCCA	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:35
5095	PCCA	HP:0001733	Pancreatitis	-	OMIM:606054
5095	PCCA	HP:0001873	Thrombocytopenia	-	OMIM:606054
5095	PCCA	HP:0001876	Pancytopenia	-	OMIM:606054
5095	PCCA	HP:0001875	Decreased total neutrophil count	-	OMIM:606054
5096	PCCB	HP:0001254	Lethargy	-	OMIM:606054
5096	PCCB	HP:0001250	Seizure	-	OMIM:606054
5096	PCCB	HP:0001249	Intellectual disability	HP:0040282	ORPHA:35
5096	PCCB	HP:0001263	Global developmental delay	HP:0040282	ORPHA:35
5096	PCCB	HP:0001263	Global developmental delay	20/20	OMIM:606054
5096	PCCB	HP:0001259	Coma	-	OMIM:606054
5096	PCCB	HP:0010978	Abnormality of immune system physiology	HP:0040282	ORPHA:35
5096	PCCB	HP:0002509	Limb hypertonia	-	OMIM:606054
5096	PCCB	HP:0008872	Feeding difficulties in infancy	-	OMIM:606054
5096	PCCB	HP:0001332	Dystonia	-	OMIM:606054
5096	PCCB	HP:0000007	Autosomal recessive inheritance	-	OMIM:606054
5096	PCCB	HP:0410066	Increased level of hippuric acid in urine	20/20	OMIM:606054
5096	PCCB	HP:0008936	Axial hypotonia	-	OMIM:606054
5096	PCCB	HP:0002789	Tachypnea	-	OMIM:606054
5096	PCCB	HP:0003353	Propionyl-CoA carboxylase deficiency	HP:0040281	ORPHA:35
5096	PCCB	HP:0003353	Propionyl-CoA carboxylase deficiency	-	OMIM:606054
5096	PCCB	HP:0002019	Constipation	-	OMIM:606054
5096	PCCB	HP:0002019	Constipation	HP:0040281	ORPHA:35
5096	PCCB	HP:0002013	Vomiting	-	OMIM:606054
5096	PCCB	HP:0002059	Cerebral atrophy	-	OMIM:606054
5096	PCCB	HP:0002154	Hyperglycinemia	-	OMIM:606054
5096	PCCB	HP:0002104	Apnea	-	OMIM:606054
5096	PCCB	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:35
5096	PCCB	HP:0002240	Hepatomegaly	-	OMIM:606054
5096	PCCB	HP:0006846	Acute encephalopathy	-	OMIM:606054
5096	PCCB	HP:0001944	Dehydration	-	OMIM:606054
5096	PCCB	HP:0001943	Hypoglycemia	-	OMIM:606054
5096	PCCB	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:35
5096	PCCB	HP:0001942	Metabolic acidosis	-	OMIM:606054
5096	PCCB	HP:0001903	Anemia	-	OMIM:606054
5096	PCCB	HP:0001992	Organic aciduria	HP:0040281	ORPHA:35
5096	PCCB	HP:0001987	Hyperammonemia	HP:0040281	ORPHA:35
5096	PCCB	HP:0001987	Hyperammonemia	-	OMIM:606054
5096	PCCB	HP:0004322	Short stature	-	OMIM:606054
5096	PCCB	HP:0004396	Poor appetite	-	OMIM:606054
5096	PCCB	HP:0003108	Hyperglycinuria	-	OMIM:606054
5096	PCCB	HP:0003128	Lactic acidosis	-	OMIM:606054
5096	PCCB	HP:0000964	Eczematoid dermatitis	-	OMIM:606054
5096	PCCB	HP:0000939	Osteoporosis	-	OMIM:606054
5096	PCCB	HP:0011695	Cerebellar hemorrhage	HP:0040283	OMIM:606054
5096	PCCB	HP:0011675	Arrhythmia	HP:0040282	ORPHA:35
5096	PCCB	HP:0001508	Failure to thrive	-	OMIM:606054
5096	PCCB	HP:0001638	Cardiomyopathy	-	OMIM:606054
5096	PCCB	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:35
5096	PCCB	HP:0001733	Pancreatitis	-	OMIM:606054
5096	PCCB	HP:0001873	Thrombocytopenia	-	OMIM:606054
5096	PCCB	HP:0001876	Pancytopenia	-	OMIM:606054
5096	PCCB	HP:0001875	Decreased total neutrophil count	-	OMIM:606054
5105	PCK1	HP:0002480	Hepatic encephalopathy	-	OMIM:261680
5105	PCK1	HP:6000619	Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts	1/1	OMIM:261680
5105	PCK1	HP:0001254	Lethargy	HP:0040283	ORPHA:2880
5105	PCK1	HP:0001250	Seizure	-	OMIM:261680
5105	PCK1	HP:0001252	Hypotonia	HP:0040283	ORPHA:2880
5105	PCK1	HP:0001263	Global developmental delay	-	OMIM:261680
5105	PCK1	HP:0001397	Hepatic steatosis	-	OMIM:261680
5105	PCK1	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:2880
5105	PCK1	HP:0001399	Hepatic failure	1/1	OMIM:261680
5105	PCK1	HP:0001325	Hypoglycemic coma	HP:0040283	ORPHA:2880
5105	PCK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:261680
5105	PCK1	HP:0031141	Increased hepatic echogenicity	1/1	OMIM:261680
5105	PCK1	HP:0001410	Decreased liver function	HP:0040283	ORPHA:2880
5105	PCK1	HP:0002013	Vomiting	HP:0040283	ORPHA:2880
5105	PCK1	HP:0005959	Impaired gluconeogenesis	-	OMIM:261680
5105	PCK1	HP:0002059	Cerebral atrophy	-	OMIM:261680
5105	PCK1	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:2880
5105	PCK1	HP:0002104	Apnea	-	OMIM:261680
5105	PCK1	HP:0002173	Hypoglycemic seizures	HP:0040282	ORPHA:2880
5105	PCK1	HP:0003593	Infantile onset	1/1	OMIM:261680
5105	PCK1	HP:0003572	Low plasma citrulline	-	OMIM:261680
5105	PCK1	HP:0002240	Hepatomegaly	-	OMIM:261680
5105	PCK1	HP:0034648	Elevated urine fumaric acid level	HP:0040282	ORPHA:2880
5105	PCK1	HP:0002353	EEG abnormality	-	OMIM:261680
5105	PCK1	HP:0003648	Lacticaciduria	HP:0040282	ORPHA:2880
5105	PCK1	HP:0002329	Drowsiness	HP:0040283	ORPHA:2880
5105	PCK1	HP:0006846	Acute encephalopathy	HP:0040283	ORPHA:2880
5105	PCK1	HP:0000648	Optic atrophy	-	OMIM:261680
5105	PCK1	HP:0001943	Hypoglycemia	1/1	OMIM:261680
5105	PCK1	HP:0001988	Recurrent hypoglycemia	HP:0040281	ORPHA:2880
5105	PCK1	HP:0001987	Hyperammonemia	HP:0040284	ORPHA:2880
5105	PCK1	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:2880
5105	PCK1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	HP:0040282	ORPHA:2880
5105	PCK1	HP:0031964	Elevated circulating alanine aminotransferase concentration	HP:0040282	ORPHA:2880
5105	PCK1	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:261680
5105	PCK1	HP:0000799	Renal steatosis	-	OMIM:261680
5105	PCK1	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:2880
5105	PCK1	HP:0003162	Fasting hypoglycemia	-	OMIM:261680
5105	PCK1	HP:0003128	Lactic acidosis	1/1	OMIM:261680
5105	PCK1	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:2880
5105	PCK1	HP:0003217	Hyperglutaminemia	HP:0040282	ORPHA:2880
5105	PCK1	HP:0000961	Cyanosis	-	OMIM:261680
5105	PCK1	HP:0000252	Microcephaly	HP:0040284	ORPHA:2880
5105	PCK1	HP:0002919	Ketonuria	-	OMIM:261680
5105	PCK1	HP:0012402	Increased urine alpha-ketoglutarate concentration	HP:0040282	ORPHA:2880
5106	PCK2	HP:0001254	Lethargy	HP:0040283	ORPHA:2880
5106	PCK2	HP:0001252	Hypotonia	HP:0040283	ORPHA:2880
5106	PCK2	HP:0001397	Hepatic steatosis	-	OMIM:261650
5106	PCK2	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:2880
5106	PCK2	HP:0001399	Hepatic failure	-	OMIM:261650
5106	PCK2	HP:0001325	Hypoglycemic coma	HP:0040283	ORPHA:2880
5106	PCK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:261650
5106	PCK2	HP:0001410	Decreased liver function	HP:0040283	ORPHA:2880
5106	PCK2	HP:0002013	Vomiting	HP:0040283	ORPHA:2880
5106	PCK2	HP:0005959	Impaired gluconeogenesis	-	OMIM:261650
5106	PCK2	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:2880
5106	PCK2	HP:0002173	Hypoglycemic seizures	HP:0040282	ORPHA:2880
5106	PCK2	HP:0034648	Elevated urine fumaric acid level	HP:0040282	ORPHA:2880
5106	PCK2	HP:0003648	Lacticaciduria	HP:0040282	ORPHA:2880
5106	PCK2	HP:0002329	Drowsiness	HP:0040283	ORPHA:2880
5106	PCK2	HP:0006846	Acute encephalopathy	HP:0040283	ORPHA:2880
5106	PCK2	HP:0001943	Hypoglycemia	-	OMIM:261650
5106	PCK2	HP:0001988	Recurrent hypoglycemia	HP:0040281	ORPHA:2880
5106	PCK2	HP:0001987	Hyperammonemia	HP:0040284	ORPHA:2880
5106	PCK2	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:2880
5106	PCK2	HP:0031956	Elevated circulating aspartate aminotransferase concentration	HP:0040282	ORPHA:2880
5106	PCK2	HP:0031964	Elevated circulating alanine aminotransferase concentration	HP:0040282	ORPHA:2880
5106	PCK2	HP:0000799	Renal steatosis	-	OMIM:261650
5106	PCK2	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:2880
5106	PCK2	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:2880
5106	PCK2	HP:0003217	Hyperglutaminemia	HP:0040282	ORPHA:2880
5106	PCK2	HP:0000252	Microcephaly	HP:0040284	ORPHA:2880
5106	PCK2	HP:0012402	Increased urine alpha-ketoglutarate concentration	HP:0040282	ORPHA:2880
5111	PCNA	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:438134
5111	PCNA	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:438134
5111	PCNA	HP:0001272	Cerebellar atrophy	1/1	OMIM:615919
5111	PCNA	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:438134
5111	PCNA	HP:0001251	Ataxia	4/4	OMIM:615919
5111	PCNA	HP:0001260	Dysarthria	-	OMIM:615919
5111	PCNA	HP:0001263	Global developmental delay	4/4	OMIM:615919
5111	PCNA	HP:0001263	Global developmental delay	HP:0040281	ORPHA:438134
5111	PCNA	HP:0031087	Absent pubertal growth spurt	2/4	OMIM:615919
5111	PCNA	HP:0031087	Absent pubertal growth spurt	HP:0040282	ORPHA:438134
5111	PCNA	HP:0002664	Neoplasm	HP:0040283	ORPHA:438134
5111	PCNA	HP:0001324	Muscle weakness	-	OMIM:615919
5111	PCNA	HP:0000007	Autosomal recessive inheritance	-	OMIM:615919
5111	PCNA	HP:0002015	Dysphagia	-	OMIM:615919
5111	PCNA	HP:0003323	Progressive muscle weakness	-	OMIM:615919
5111	PCNA	HP:0002066	Gait ataxia	HP:0040281	ORPHA:438134
5111	PCNA	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:438134
5111	PCNA	HP:0002180	Neurodegeneration	4/4	OMIM:615919
5111	PCNA	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:438134
5111	PCNA	HP:0003593	Infantile onset	4/4	OMIM:615919
5111	PCNA	HP:0034697	Cutaneous telangiectasia	4/4	OMIM:615919
5111	PCNA	HP:0003676	Progressive	-	OMIM:615919
5111	PCNA	HP:0002317	Unsteady gait	4/4	OMIM:615919
5111	PCNA	HP:0000613	Photophobia	4/4	OMIM:615919
5111	PCNA	HP:0000613	Photophobia	HP:0040281	ORPHA:438134
5111	PCNA	HP:0004322	Short stature	4/4	OMIM:615919
5111	PCNA	HP:0004322	Short stature	HP:0040282	ORPHA:438134
5111	PCNA	HP:0000776	Congenital diaphragmatic hernia	1/4	OMIM:615919
5111	PCNA	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:438134
5111	PCNA	HP:0034392	Joint contracture	1/4	OMIM:615919
5111	PCNA	HP:0000992	Cutaneous photosensitivity	4/4	OMIM:615919
5111	PCNA	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:438134
5111	PCNA	HP:0007763	Retinal telangiectasia	HP:0040282	ORPHA:438134
5111	PCNA	HP:0000252	Microcephaly	3/4	OMIM:615919
5111	PCNA	HP:0000252	Microcephaly	HP:0040283	ORPHA:438134
5111	PCNA	HP:0000365	Hearing impairment	HP:0040281	ORPHA:438134
5111	PCNA	HP:0005328	Progeroid facial appearance	1/2	OMIM:615919
5111	PCNA	HP:0000407	Sensorineural hearing impairment	4/4	OMIM:615919
5111	PCNA	HP:0001761	Pes cavus	-	OMIM:615919
5111	PCNA	HP:0000524	Conjunctival telangiectasia	3/4	OMIM:615919
5116	PCNT	HP:0001156	Brachydactyly	-	OMIM:210720
5116	PCNT	HP:0001156	Brachydactyly	HP:0040281	ORPHA:2637
5116	PCNT	HP:0009906	Aplasia/Hypoplasia of the earlobes	HP:0040281	ORPHA:2637
5116	PCNT	HP:0009882	Short distal phalanx of finger	-	OMIM:210720
5116	PCNT	HP:0008551	Microtia	-	OMIM:210720
5116	PCNT	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5116	PCNT	HP:0001297	Stroke	HP:0040283	ORPHA:2637
5116	PCNT	HP:0001293	Cranial nerve compression	-	OMIM:131300
5116	PCNT	HP:0001250	Seizure	HP:0040283	ORPHA:2637
5116	PCNT	HP:0001252	Hypotonia	2/7	OMIM:615777
5116	PCNT	HP:0001249	Intellectual disability	HP:0040281	ORPHA:808
5116	PCNT	HP:0001249	Intellectual disability	5/7	OMIM:615777
5116	PCNT	HP:0001249	Intellectual disability	-	OMIM:210720
5116	PCNT	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2637
5116	PCNT	HP:0001263	Global developmental delay	-	OMIM:615777
5116	PCNT	HP:0001263	Global developmental delay	-	OMIM:210720
5116	PCNT	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2637
5116	PCNT	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:2637
5116	PCNT	HP:0007402	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines	-	OMIM:210720
5116	PCNT	HP:0002515	Waddling gait	54/102	OMIM:131300
5116	PCNT	HP:0001377	Limited elbow extension	HP:0040283	OMIM:210720
5116	PCNT	HP:0000055	Abnormal female external genitalia morphology	HP:0040282	ORPHA:2637
5116	PCNT	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:808
5116	PCNT	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:808
5116	PCNT	HP:0001382	Joint hypermobility	-	OMIM:615777
5116	PCNT	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:2637
5116	PCNT	HP:0000047	Hypospadias	-	OMIM:210720
5116	PCNT	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:808
5116	PCNT	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5116	PCNT	HP:0002690	Large sella turcica	HP:0040283	OMIM:210720
5116	PCNT	HP:0007565	Multiple cafe-au-lait spots	HP:0040282	ORPHA:2637
5116	PCNT	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5116	PCNT	HP:0008897	Postnatal growth retardation	-	OMIM:210720
5116	PCNT	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:808
5116	PCNT	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5116	PCNT	HP:0001324	Muscle weakness	40/96	OMIM:131300
5116	PCNT	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5116	PCNT	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5116	PCNT	HP:0000007	Autosomal recessive inheritance	-	OMIM:210720
5116	PCNT	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5116	PCNT	HP:0002650	Scoliosis	HP:0040283	ORPHA:808
5116	PCNT	HP:0002650	Scoliosis	12/14	OMIM:131300
5116	PCNT	HP:0002650	Scoliosis	HP:0040282	ORPHA:2637
5116	PCNT	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5116	PCNT	HP:0002617	Vascular dilatation	HP:0040283	ORPHA:2637
5116	PCNT	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5116	PCNT	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5116	PCNT	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5116	PCNT	HP:0000175	Cleft palate	2/7	OMIM:615777
5116	PCNT	HP:0006297	Enamel hypoplasia	-	OMIM:210720
5116	PCNT	HP:0002777	Tracheal stenosis	HP:0040283	ORPHA:2637
5116	PCNT	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:808
5116	PCNT	HP:0002750	Delayed skeletal maturation	-	OMIM:210720
5116	PCNT	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2637
5116	PCNT	HP:0005978	Type II diabetes mellitus	-	OMIM:210720
5116	PCNT	HP:0100545	Arterial stenosis	HP:0040283	ORPHA:2637
5116	PCNT	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:808
5116	PCNT	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2637
5116	PCNT	HP:0003388	Easy fatigability	36/76	OMIM:131300
5116	PCNT	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5116	PCNT	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2637
5116	PCNT	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:2637
5116	PCNT	HP:0003498	Disproportionate short stature	HP:0040281	ORPHA:2637
5116	PCNT	HP:0003498	Disproportionate short stature	-	OMIM:210720
5116	PCNT	HP:0011834	Moyamoya phenomenon	-	OMIM:210720
5116	PCNT	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:808
5116	PCNT	HP:0010579	Cone-shaped epiphysis	HP:0040283	OMIM:210720
5116	PCNT	HP:0010583	Ivory epiphyses	HP:0040283	OMIM:210720
5116	PCNT	HP:0002213	Fine hair	HP:0040281	ORPHA:2637
5116	PCNT	HP:0002209	Sparse scalp hair	-	OMIM:210720
5116	PCNT	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:808
5116	PCNT	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:2637
5116	PCNT	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:2637
5116	PCNT	HP:0003510	Severe short stature	7/7	OMIM:615777
5116	PCNT	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:2637
5116	PCNT	HP:0002315	Headache	-	OMIM:131300
5116	PCNT	HP:0004976	Knee dislocation	6/7	OMIM:615777
5116	PCNT	HP:0100659	Abnormal cerebral vascular morphology	HP:0040283	ORPHA:2637
5116	PCNT	HP:0009804	Tooth agenesis	HP:0040281	ORPHA:2637
5116	PCNT	HP:0009804	Tooth agenesis	HP:0040282	ORPHA:808
5116	PCNT	HP:0009803	Short phalanx of finger	-	OMIM:615777
5116	PCNT	HP:0009763	Limb pain	63/92	OMIM:131300
5116	PCNT	HP:0003621	Juvenile onset	-	OMIM:131300
5116	PCNT	HP:0004944	Dilatation of the cerebral artery	-	OMIM:210720
5116	PCNT	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5116	PCNT	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:808
5116	PCNT	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:210720
5116	PCNT	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:2637
5116	PCNT	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5116	PCNT	HP:6001056	Out-toeing	-	OMIM:131300
5116	PCNT	HP:0000651	Diplopia	-	OMIM:131300
5116	PCNT	HP:0001956	Truncal obesity	HP:0040282	ORPHA:2637
5116	PCNT	HP:0001956	Truncal obesity	2/7	OMIM:615777
5116	PCNT	HP:0001956	Truncal obesity	-	OMIM:210720
5116	PCNT	HP:0001903	Anemia	HP:0040283	OMIM:131300
5116	PCNT	HP:0001903	Anemia	HP:0040283	ORPHA:2637
5116	PCNT	HP:0010049	Short metacarpal	-	OMIM:615777
5116	PCNT	HP:0010034	Short 1st metacarpal	-	OMIM:210720
5116	PCNT	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:808
5116	PCNT	HP:0011342	Mild global developmental delay	HP:0040281	ORPHA:808
5116	PCNT	HP:0000678	Dental crowding	-	OMIM:615777
5116	PCNT	HP:0000691	Microdontia	HP:0040283	OMIM:210720
5116	PCNT	HP:0000691	Microdontia	HP:0040282	ORPHA:2637
5116	PCNT	HP:0000670	Carious teeth	-	OMIM:131300
5116	PCNT	HP:0011304	Broad thumb	2/7	OMIM:615777
5116	PCNT	HP:0000668	Hypodontia	-	OMIM:615777
5116	PCNT	HP:0000664	Synophrys	-	OMIM:615777
5116	PCNT	HP:0004322	Short stature	HP:0040281	ORPHA:808
5116	PCNT	HP:0004326	Cachexia	HP:0040281	ORPHA:808
5116	PCNT	HP:0009193	Metacarpal pseudoepiphysis	-	OMIM:210720
5116	PCNT	HP:0004396	Poor appetite	-	OMIM:131300
5116	PCNT	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5116	PCNT	HP:0003031	Ulnar bowing	-	OMIM:210720
5116	PCNT	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5116	PCNT	HP:0003015	Flared metaphysis	-	OMIM:210720
5116	PCNT	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5116	PCNT	HP:0003026	Short long bone	7/7	OMIM:615777
5116	PCNT	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5116	PCNT	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5116	PCNT	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5116	PCNT	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5116	PCNT	HP:0000750	Delayed speech and language development	-	OMIM:615777
5116	PCNT	HP:0011461	Fetal onset	7/7	OMIM:615777
5116	PCNT	HP:0000774	Narrow chest	2/7	OMIM:615777
5116	PCNT	HP:0000774	Narrow chest	HP:0040283	OMIM:210720
5116	PCNT	HP:0003100	Slender long bone	-	OMIM:210720
5116	PCNT	HP:0000926	Platyspondyly	1/7	OMIM:615777
5116	PCNT	HP:0003180	Flat acetabular roof	-	OMIM:615777
5116	PCNT	HP:0004482	Relative macrocephaly	-	OMIM:615777
5116	PCNT	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5116	PCNT	HP:0000882	Hypoplastic scapulae	HP:0040283	OMIM:210720
5116	PCNT	HP:0000890	Long clavicles	HP:0040283	OMIM:210720
5116	PCNT	HP:0000826	Precocious puberty	HP:0040283	ORPHA:2637
5116	PCNT	HP:0000826	Precocious puberty	-	OMIM:210720
5116	PCNT	HP:0000823	Delayed puberty	-	OMIM:131300
5116	PCNT	HP:0000894	Short clavicles	-	OMIM:615777
5116	PCNT	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5116	PCNT	HP:0003275	Narrow pelvis bone	HP:0040281	ORPHA:2637
5116	PCNT	HP:0003275	Narrow pelvis bone	-	OMIM:210720
5116	PCNT	HP:0100263	Distal symphalangism	HP:0040283	OMIM:210720
5116	PCNT	HP:0000958	Dry skin	HP:0040282	ORPHA:2637
5116	PCNT	HP:0000957	Cafe-au-lait spot	-	OMIM:210720
5116	PCNT	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5116	PCNT	HP:0045025	Narrow palpebral fissure	HP:0040283	ORPHA:2637
5116	PCNT	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2637
5116	PCNT	HP:0005819	Short middle phalanx of finger	HP:0040283	OMIM:210720
5116	PCNT	HP:0000286	Epicanthus	1/7	OMIM:615777
5116	PCNT	HP:0000280	Coarse facial features	2/7	OMIM:615777
5116	PCNT	HP:0000278	Retrognathia	-	OMIM:210720
5116	PCNT	HP:0000278	Retrognathia	HP:0040282	ORPHA:2637
5116	PCNT	HP:0000293	Full cheeks	HP:0040282	ORPHA:2637
5116	PCNT	HP:0000275	Narrow face	HP:0040281	ORPHA:808
5116	PCNT	HP:0006461	Proximal femoral epiphysiolysis	-	OMIM:210720
5116	PCNT	HP:0002812	Coxa vara	HP:0040281	ORPHA:2637
5116	PCNT	HP:0002812	Coxa vara	-	OMIM:210720
5116	PCNT	HP:0002827	Hip dislocation	3/7	OMIM:615777
5116	PCNT	HP:0000252	Microcephaly	HP:0040281	ORPHA:808
5116	PCNT	HP:0000252	Microcephaly	-	OMIM:615777
5116	PCNT	HP:0000252	Microcephaly	-	OMIM:210720
5116	PCNT	HP:0000252	Microcephaly	HP:0040281	ORPHA:2637
5116	PCNT	HP:0002857	Genu valgum	-	OMIM:131300
5116	PCNT	HP:0001533	Slender build	-	OMIM:131300
5116	PCNT	HP:0002866	Hypoplastic iliac wing	HP:0040281	ORPHA:2637
5116	PCNT	HP:0002866	Hypoplastic iliac wing	-	OMIM:210720
5116	PCNT	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:808
5116	PCNT	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5116	PCNT	HP:0001511	Intrauterine growth retardation	-	OMIM:210720
5116	PCNT	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2637
5116	PCNT	HP:0007807	Optic nerve compression	-	OMIM:131300
5116	PCNT	HP:0000387	Absent earlobe	HP:0040282	ORPHA:808
5116	PCNT	HP:0012368	Flat face	7/7	OMIM:615777
5116	PCNT	HP:0006587	Straight clavicles	HP:0040283	OMIM:210720
5116	PCNT	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5116	PCNT	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:2637
5116	PCNT	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:2637
5116	PCNT	HP:0000363	Abnormal earlobe morphology	HP:0040282	ORPHA:808
5116	PCNT	HP:0000365	Hearing impairment	10/67	OMIM:131300
5116	PCNT	HP:0000369	Low-set ears	HP:0040282	ORPHA:2637
5116	PCNT	HP:0000340	Sloping forehead	-	OMIM:210720
5116	PCNT	HP:0000343	Long philtrum	1/7	OMIM:615777
5116	PCNT	HP:0011001	Increased bone mineral density	-	OMIM:131300
5116	PCNT	HP:0000347	Micrognathia	HP:0040281	ORPHA:808
5116	PCNT	HP:0002982	Tibial bowing	-	OMIM:210720
5116	PCNT	HP:0002983	Micromelia	HP:0040281	ORPHA:2637
5116	PCNT	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:2637
5116	PCNT	HP:0000311	Round face	2/7	OMIM:615777
5116	PCNT	HP:0002986	Radial bowing	-	OMIM:210720
5116	PCNT	HP:0001620	Abnormally high-pitched voice	HP:0040281	ORPHA:2637
5116	PCNT	HP:0001620	Abnormally high-pitched voice	-	OMIM:210720
5116	PCNT	HP:0002970	Genu varum	-	OMIM:615777
5116	PCNT	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:2637
5116	PCNT	HP:0000303	Mandibular prognathia	-	OMIM:131300
5116	PCNT	HP:0006645	Thin clavicles	HP:0040283	OMIM:210720
5116	PCNT	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:2637
5116	PCNT	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5116	PCNT	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:808
5116	PCNT	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:2637
5116	PCNT	HP:0000470	Short neck	1/7	OMIM:615777
5116	PCNT	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5116	PCNT	HP:0001763	Pes planus	1/7	OMIM:615777
5116	PCNT	HP:0000448	Prominent nose	-	OMIM:210720
5116	PCNT	HP:0000448	Prominent nose	HP:0040281	ORPHA:2637
5116	PCNT	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:808
5116	PCNT	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:2637
5116	PCNT	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:2637
5116	PCNT	HP:0000426	Prominent nasal bridge	-	OMIM:210720
5116	PCNT	HP:0001840	Metatarsus adductus	-	OMIM:615777
5116	PCNT	HP:0001852	Sandal gap	HP:0040281	ORPHA:808
5116	PCNT	HP:0000520	Proptosis	2/4	OMIM:131300
5116	PCNT	HP:0000520	Proptosis	7/7	OMIM:615777
5116	PCNT	HP:0000501	Glaucoma	HP:0040282	ORPHA:808
5116	PCNT	HP:0000582	Upslanted palpebral fissure	-	OMIM:210720
5116	PCNT	HP:0000592	Blue sclerae	2/7	OMIM:615777
5116	PCNT	HP:0000540	Hypermetropia	-	OMIM:210720
5116	PCNT	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5116	PCNT	HP:0012514	Lower limb pain	4/4	OMIM:131300
5119	CHMP1A	HP:0002465	Poor speech	-	OMIM:614961
5119	CHMP1A	HP:0001290	Generalized hypotonia	1/6	OMIM:614961
5119	CHMP1A	HP:0001276	Hypertonia	1/6	OMIM:614961
5119	CHMP1A	HP:0001252	Hypotonia	2/6	OMIM:614961
5119	CHMP1A	HP:0001249	Intellectual disability	-	OMIM:614961
5119	CHMP1A	HP:0001263	Global developmental delay	6/6	OMIM:614961
5119	CHMP1A	HP:0001257	Spasticity	1/6	OMIM:614961
5119	CHMP1A	HP:0001387	Joint stiffness	1/6	OMIM:614961
5119	CHMP1A	HP:0001348	Brisk reflexes	1/6	OMIM:614961
5119	CHMP1A	HP:0001347	Hyperreflexia	2/6	OMIM:614961
5119	CHMP1A	HP:0001344	Absent speech	-	OMIM:614961
5119	CHMP1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:614961
5119	CHMP1A	HP:0002650	Scoliosis	1/6	OMIM:614961
5119	CHMP1A	HP:0001321	Cerebellar hypoplasia	5/6	OMIM:614961
5119	CHMP1A	HP:0008936	Axial hypotonia	1/6	OMIM:614961
5119	CHMP1A	HP:0004684	Talipes valgus	1/6	OMIM:614961
5119	CHMP1A	HP:0002020	Gastroesophageal reflux	1/6	OMIM:614961
5119	CHMP1A	HP:0002019	Constipation	1/6	OMIM:614961
5119	CHMP1A	HP:0002015	Dysphagia	-	OMIM:614961
5119	CHMP1A	HP:0002066	Gait ataxia	1/6	OMIM:614961
5119	CHMP1A	HP:0002079	Hypoplasia of the corpus callosum	5/6	OMIM:614961
5119	CHMP1A	HP:0002072	Chorea	1/6	OMIM:614961
5119	CHMP1A	HP:0003593	Infantile onset	4/6	OMIM:614961
5119	CHMP1A	HP:0003577	Congenital onset	2/6	OMIM:614961
5119	CHMP1A	HP:0100704	Cerebral visual impairment	2/6	OMIM:614961
5119	CHMP1A	HP:0011968	Feeding difficulties	1/6	OMIM:614961
5119	CHMP1A	HP:0020045	Esodeviation	1/6	OMIM:614961
5119	CHMP1A	HP:0002365	Hypoplasia of the brainstem	1/6	OMIM:614961
5119	CHMP1A	HP:0002376	Developmental regression	1/6	OMIM:614961
5119	CHMP1A	HP:0010804	Tented upper lip vermilion	1/6	OMIM:614961
5119	CHMP1A	HP:0000664	Synophrys	1/6	OMIM:614961
5119	CHMP1A	HP:0004305	Involuntary movements	1/6	OMIM:614961
5119	CHMP1A	HP:0031936	Delayed ability to walk	3/6	OMIM:614961
5119	CHMP1A	HP:0012760	Reduced social responsiveness	4/6	OMIM:614961
5119	CHMP1A	HP:0034295	Reduced cerebral white matter volume	6/6	OMIM:614961
5119	CHMP1A	HP:0000998	Hypertrichosis	1/6	OMIM:614961
5119	CHMP1A	HP:0002804	Arthrogryposis multiplex congenita	2/6	OMIM:614961
5119	CHMP1A	HP:0000358	Posteriorly rotated ears	1/6	OMIM:614961
5119	CHMP1A	HP:0000369	Low-set ears	1/6	OMIM:614961
5119	CHMP1A	HP:0001655	Patent foramen ovale	1/6	OMIM:614961
5119	CHMP1A	HP:0001629	Ventricular septal defect	1/6	OMIM:614961
5119	CHMP1A	HP:0000483	Astigmatism	2/6	OMIM:614961
5119	CHMP1A	HP:0000463	Anteverted nares	1/6	OMIM:614961
5119	CHMP1A	HP:0001762	Talipes equinovarus	1/6	OMIM:614961
5119	CHMP1A	HP:0001761	Pes cavus	-	OMIM:614961
5119	CHMP1A	HP:0005484	Secondary microcephaly	1/6	OMIM:614961
5119	CHMP1A	HP:0000527	Long eyelashes	1/6	OMIM:614961
5119	CHMP1A	HP:0000574	Thick eyebrow	1/6	OMIM:614961
5119	CHMP1A	HP:0000565	Esotropia	2/6	OMIM:614961
5119	CHMP1A	HP:0000540	Hypermetropia	1/6	OMIM:614961
5119	CHMP1A	HP:0000545	Myopia	1/6	OMIM:614961
5122	PCSK1	HP:0002591	Polyphagia	HP:0040281	ORPHA:71528
5122	PCSK1	HP:0001396	Cholestasis	HP:0040282	ORPHA:71528
5122	PCSK1	HP:0012051	Reactive hypoglycemia	-	OMIM:600955
5122	PCSK1	HP:0000044	Hypogonadotropic hypogonadism	1/1	OMIM:600955
5122	PCSK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:600955
5122	PCSK1	HP:0008915	Childhood-onset truncal obesity	HP:0040282	ORPHA:71528
5122	PCSK1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:71528
5122	PCSK1	HP:0002024	Malabsorption	-	OMIM:600955
5122	PCSK1	HP:0002014	Diarrhea	-	OMIM:600955
5122	PCSK1	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:71528
5122	PCSK1	HP:0008163	Decreased circulating cortisol level	1/1	OMIM:600955
5122	PCSK1	HP:0002173	Hypoglycemic seizures	HP:0040283	ORPHA:71528
5122	PCSK1	HP:0008245	Pituitary hypothyroidism	HP:0040283	ORPHA:71528
5122	PCSK1	HP:0008213	Gonadotropin deficiency	HP:0040283	ORPHA:71528
5122	PCSK1	HP:0002297	Red hair	HP:0040282	ORPHA:71528
5122	PCSK1	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:71528
5122	PCSK1	HP:6000419	Elevated circulating proinsulin concentration	1/1	OMIM:600955
5122	PCSK1	HP:0011473	Villous atrophy	-	OMIM:600955
5122	PCSK1	HP:0011463	Childhood onset	1/1	OMIM:600955
5122	PCSK1	HP:0009126	Increased adipose tissue	HP:0040280	ORPHA:71528
5122	PCSK1	HP:0000786	Primary amenorrhea	-	OMIM:600955
5122	PCSK1	HP:0000842	Hyperinsulinemia	HP:0040283	ORPHA:71528
5122	PCSK1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:71528
5122	PCSK1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:71528
5122	PCSK1	HP:0040216	Hypoinsulinemia	1/1	OMIM:600955
5122	PCSK1	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:71528
5122	PCSK1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:71528
5122	PCSK1	HP:0001510	Growth delay	HP:0040283	ORPHA:71528
5122	PCSK1	HP:0001513	Obesity	1/1	OMIM:600955
5122	PCSK1	HP:0001513	Obesity	HP:0040280	ORPHA:71528
5130	PCYT1A	HP:0001156	Brachydactyly	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0001156	Brachydactyly	-	OMIM:608940
5130	PCYT1A	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5130	PCYT1A	HP:0001132	Lens subluxation	HP:0040283	ORPHA:85167
5130	PCYT1A	HP:0001132	Lens subluxation	1/4	OMIM:608940
5130	PCYT1A	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
5130	PCYT1A	HP:0001105	Retinal atrophy	HP:0040283	ORPHA:85167
5130	PCYT1A	HP:0001105	Retinal atrophy	2/4	OMIM:608940
5130	PCYT1A	HP:0009918	Ectopia pupillae	HP:0040283	ORPHA:85167
5130	PCYT1A	HP:0009918	Ectopia pupillae	2/4	OMIM:608940
5130	PCYT1A	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5130	PCYT1A	HP:0001293	Cranial nerve compression	-	OMIM:131300
5130	PCYT1A	HP:0001270	Motor delay	HP:0040283	ORPHA:65
5130	PCYT1A	HP:0001250	Seizure	HP:0040282	ORPHA:65
5130	PCYT1A	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
5130	PCYT1A	HP:0001252	Hypotonia	2/7	OMIM:615777
5130	PCYT1A	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
5130	PCYT1A	HP:0001249	Intellectual disability	-	ORPHA:85167
5130	PCYT1A	HP:0001249	Intellectual disability	5/7	OMIM:615777
5130	PCYT1A	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
5130	PCYT1A	HP:0001263	Global developmental delay	-	OMIM:615777
5130	PCYT1A	HP:0007401	Macular atrophy	HP:0040283	ORPHA:85167
5130	PCYT1A	HP:0007401	Macular atrophy	1/4	OMIM:608940
5130	PCYT1A	HP:0002515	Waddling gait	54/102	OMIM:131300
5130	PCYT1A	HP:0001397	Hepatic steatosis	2/2	OMIM:620680
5130	PCYT1A	HP:0001387	Joint stiffness	-	OMIM:608940
5130	PCYT1A	HP:0001382	Joint hypermobility	-	OMIM:615777
5130	PCYT1A	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5130	PCYT1A	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5130	PCYT1A	HP:0008897	Postnatal growth retardation	-	OMIM:608940
5130	PCYT1A	HP:0008821	Hypoplastic inferior ilia	-	OMIM:608940
5130	PCYT1A	HP:0031171	Femoral spur	HP:0040282	ORPHA:85167
5130	PCYT1A	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5130	PCYT1A	HP:0001324	Muscle weakness	40/96	OMIM:131300
5130	PCYT1A	HP:0002657	Spondylometaphyseal dysplasia	4/4	OMIM:608940
5130	PCYT1A	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5130	PCYT1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:620680
5130	PCYT1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:608940
5130	PCYT1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5130	PCYT1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5130	PCYT1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5130	PCYT1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5130	PCYT1A	HP:0002650	Scoliosis	1/4	OMIM:608940
5130	PCYT1A	HP:0002650	Scoliosis	HP:0040283	ORPHA:85167
5130	PCYT1A	HP:0002650	Scoliosis	12/14	OMIM:131300
5130	PCYT1A	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5130	PCYT1A	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5130	PCYT1A	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5130	PCYT1A	HP:0031141	Increased hepatic echogenicity	2/4	OMIM:608940
5130	PCYT1A	HP:0008905	Rhizomelia	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0008905	Rhizomelia	-	OMIM:608940
5130	PCYT1A	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5130	PCYT1A	HP:0012153	Hypotriglyceridemia	HP:0040283	ORPHA:85167
5130	PCYT1A	HP:0000175	Cleft palate	2/7	OMIM:615777
5130	PCYT1A	HP:0001483	Eye poking	HP:0040282	ORPHA:65
5130	PCYT1A	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5130	PCYT1A	HP:0007688	Undetectable light- and dark-adapted electroretinogram	HP:0040283	ORPHA:85167
5130	PCYT1A	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5130	PCYT1A	HP:0007663	Reduced visual acuity	8/10	OMIM:608940
5130	PCYT1A	HP:0005978	Type II diabetes mellitus	1/2	OMIM:620680
5130	PCYT1A	HP:0003300	Ovoid vertebral bodies	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0003300	Ovoid vertebral bodies	-	OMIM:608940
5130	PCYT1A	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
5130	PCYT1A	HP:0003375	Narrow greater sciatic notch	HP:0040282	ORPHA:85167
5130	PCYT1A	HP:0003375	Narrow greater sciatic notch	-	OMIM:608940
5130	PCYT1A	HP:0003388	Easy fatigability	36/76	OMIM:131300
5130	PCYT1A	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5130	PCYT1A	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0002155	Hypertriglyceridemia	2/2	OMIM:620680
5130	PCYT1A	HP:0010583	Ivory epiphyses	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0003593	Infantile onset	1/2	OMIM:620680
5130	PCYT1A	HP:0003593	Infantile onset	4/4	OMIM:608940
5130	PCYT1A	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
5130	PCYT1A	HP:0003510	Severe short stature	7/7	OMIM:615777
5130	PCYT1A	HP:0003510	Severe short stature	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0002315	Headache	-	OMIM:131300
5130	PCYT1A	HP:0004976	Knee dislocation	6/7	OMIM:615777
5130	PCYT1A	HP:0009803	Short phalanx of finger	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0009803	Short phalanx of finger	-	OMIM:615777
5130	PCYT1A	HP:0009763	Limb pain	63/92	OMIM:131300
5130	PCYT1A	HP:0003635	Loss of subcutaneous adipose tissue in limbs	2/2	OMIM:620680
5130	PCYT1A	HP:0003621	Juvenile onset	8/19	OMIM:180100
5130	PCYT1A	HP:0003621	Juvenile onset	-	OMIM:131300
5130	PCYT1A	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5130	PCYT1A	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
5130	PCYT1A	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5130	PCYT1A	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
5130	PCYT1A	HP:0000639	Nystagmus	2/4	OMIM:608940
5130	PCYT1A	HP:0000639	Nystagmus	HP:0040283	ORPHA:85167
5130	PCYT1A	HP:6001056	Out-toeing	-	OMIM:131300
5130	PCYT1A	HP:0000651	Diplopia	-	OMIM:131300
5130	PCYT1A	HP:0000613	Photophobia	HP:0040282	ORPHA:65
5130	PCYT1A	HP:0001956	Truncal obesity	2/7	OMIM:615777
5130	PCYT1A	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:85167
5130	PCYT1A	HP:0001903	Anemia	HP:0040283	OMIM:131300
5130	PCYT1A	HP:0010049	Short metacarpal	-	OMIM:615777
5130	PCYT1A	HP:0010049	Short metacarpal	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0010049	Short metacarpal	-	OMIM:608940
5130	PCYT1A	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
5130	PCYT1A	HP:0000678	Dental crowding	-	OMIM:615777
5130	PCYT1A	HP:0000689	Dental malocclusion	-	OMIM:608940
5130	PCYT1A	HP:0000662	Nyctalopia	26/28	OMIM:180100
5130	PCYT1A	HP:0000670	Carious teeth	-	OMIM:131300
5130	PCYT1A	HP:0011304	Broad thumb	2/7	OMIM:615777
5130	PCYT1A	HP:0000668	Hypodontia	-	OMIM:615777
5130	PCYT1A	HP:0001999	Abnormal facial shape	0/4	OMIM:608940
5130	PCYT1A	HP:0000664	Synophrys	-	OMIM:615777
5130	PCYT1A	HP:0004322	Short stature	2/2	OMIM:620680
5130	PCYT1A	HP:0004322	Short stature	10/10	OMIM:608940
5130	PCYT1A	HP:0030685	Decreased adiponectin level	1/1	OMIM:620680
5130	PCYT1A	HP:0003074	Hyperglycemia	2/2	OMIM:620680
5130	PCYT1A	HP:0004396	Poor appetite	-	OMIM:131300
5130	PCYT1A	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5130	PCYT1A	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5130	PCYT1A	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
5130	PCYT1A	HP:0003015	Flared metaphysis	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0003015	Flared metaphysis	4/4	OMIM:608940
5130	PCYT1A	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5130	PCYT1A	HP:0003016	Metaphyseal widening	-	OMIM:608940
5130	PCYT1A	HP:0003026	Short long bone	7/7	OMIM:615777
5130	PCYT1A	HP:0003026	Short long bone	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0003026	Short long bone	4/4	OMIM:608940
5130	PCYT1A	HP:0003025	Metaphyseal irregularity	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0003025	Metaphyseal irregularity	8/8	OMIM:608940
5130	PCYT1A	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5130	PCYT1A	HP:0003021	Metaphyseal cupping	8/8	OMIM:608940
5130	PCYT1A	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5130	PCYT1A	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5130	PCYT1A	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5130	PCYT1A	HP:0000750	Delayed speech and language development	-	OMIM:615777
5130	PCYT1A	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
5130	PCYT1A	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
5130	PCYT1A	HP:0011463	Childhood onset	3/19	OMIM:180100
5130	PCYT1A	HP:0011462	Young adult onset	8/19	OMIM:180100
5130	PCYT1A	HP:0011462	Young adult onset	1/2	OMIM:620680
5130	PCYT1A	HP:0011461	Fetal onset	7/7	OMIM:615777
5130	PCYT1A	HP:0009125	Lipodystrophy	2/2	OMIM:620680
5130	PCYT1A	HP:0000774	Narrow chest	2/7	OMIM:615777
5130	PCYT1A	HP:0000926	Platyspondyly	1/7	OMIM:615777
5130	PCYT1A	HP:0000926	Platyspondyly	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0000926	Platyspondyly	12/12	OMIM:608940
5130	PCYT1A	HP:0003180	Flat acetabular roof	-	OMIM:615777
5130	PCYT1A	HP:0004482	Relative macrocephaly	-	OMIM:615777
5130	PCYT1A	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5130	PCYT1A	HP:0000887	Cupped ribs	-	OMIM:608940
5130	PCYT1A	HP:0000887	Cupped ribs	HP:0040282	ORPHA:85167
5130	PCYT1A	HP:0000855	Insulin resistance	2/2	OMIM:620680
5130	PCYT1A	HP:0000842	Hyperinsulinemia	2/2	OMIM:620680
5130	PCYT1A	HP:0000823	Delayed puberty	-	OMIM:131300
5130	PCYT1A	HP:0000894	Short clavicles	-	OMIM:615777
5130	PCYT1A	HP:0004565	Severe platyspondyly	-	OMIM:608940
5130	PCYT1A	HP:0003233	Decreased HDL cholesterol concentration	2/2	OMIM:620680
5130	PCYT1A	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5130	PCYT1A	HP:0008002	Abnormality of macular pigmentation	8/8	OMIM:608940
5130	PCYT1A	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5130	PCYT1A	HP:0000946	Hypoplastic ilia	HP:0040282	ORPHA:85167
5130	PCYT1A	HP:0009381	Short finger	-	OMIM:608940
5130	PCYT1A	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
5130	PCYT1A	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0000286	Epicanthus	1/7	OMIM:615777
5130	PCYT1A	HP:0000280	Coarse facial features	2/7	OMIM:615777
5130	PCYT1A	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5130	PCYT1A	HP:0002812	Coxa vara	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0002812	Coxa vara	-	OMIM:608940
5130	PCYT1A	HP:0002827	Hip dislocation	3/7	OMIM:615777
5130	PCYT1A	HP:0005054	Metaphyseal spurs	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0000252	Microcephaly	-	OMIM:615777
5130	PCYT1A	HP:0002857	Genu valgum	-	OMIM:131300
5130	PCYT1A	HP:0001533	Slender build	-	OMIM:131300
5130	PCYT1A	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5130	PCYT1A	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5130	PCYT1A	HP:0007807	Optic nerve compression	-	OMIM:131300
5130	PCYT1A	HP:0012368	Flat face	7/7	OMIM:615777
5130	PCYT1A	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5130	PCYT1A	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:620680
5130	PCYT1A	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
5130	PCYT1A	HP:0000365	Hearing impairment	10/67	OMIM:131300
5130	PCYT1A	HP:0000343	Long philtrum	1/7	OMIM:615777
5130	PCYT1A	HP:0011001	Increased bone mineral density	-	OMIM:131300
5130	PCYT1A	HP:0002982	Tibial bowing	-	OMIM:608940
5130	PCYT1A	HP:0002980	Femoral bowing	-	OMIM:608940
5130	PCYT1A	HP:0002979	Bowing of the legs	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0002979	Bowing of the legs	4/4	OMIM:608940
5130	PCYT1A	HP:0000311	Round face	2/7	OMIM:615777
5130	PCYT1A	HP:0002970	Genu varum	-	OMIM:615777
5130	PCYT1A	HP:0000303	Mandibular prognathia	-	OMIM:131300
5130	PCYT1A	HP:0007957	Corneal opacity	HP:0040283	ORPHA:85167
5130	PCYT1A	HP:0007957	Corneal opacity	1/4	OMIM:608940
5130	PCYT1A	HP:0030329	Retinal thinning	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0030329	Retinal thinning	1/1	OMIM:608940
5130	PCYT1A	HP:0000403	Recurrent otitis media	-	OMIM:608940
5130	PCYT1A	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5130	PCYT1A	HP:0000486	Strabismus	2/4	OMIM:608940
5130	PCYT1A	HP:0000486	Strabismus	HP:0040283	ORPHA:85167
5130	PCYT1A	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
5130	PCYT1A	HP:0000470	Short neck	1/7	OMIM:615777
5130	PCYT1A	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
5130	PCYT1A	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5130	PCYT1A	HP:0001763	Pes planus	1/7	OMIM:615777
5130	PCYT1A	HP:0000518	Cataract	HP:0040282	ORPHA:65
5130	PCYT1A	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5130	PCYT1A	HP:0001840	Metatarsus adductus	-	OMIM:615777
5130	PCYT1A	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
5130	PCYT1A	HP:0041079	Decreased body fat percentage	2/2	OMIM:620680
5130	PCYT1A	HP:0000529	Progressive visual loss	-	OMIM:608940
5130	PCYT1A	HP:0000520	Proptosis	2/4	OMIM:131300
5130	PCYT1A	HP:0000520	Proptosis	7/7	OMIM:615777
5130	PCYT1A	HP:0000505	Visual impairment	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0000575	Scotoma	5/18	OMIM:180100
5130	PCYT1A	HP:0000592	Blue sclerae	2/7	OMIM:615777
5130	PCYT1A	HP:0000589	Coloboma	HP:0040283	ORPHA:85167
5130	PCYT1A	HP:0000588	Optic disc coloboma	1/4	OMIM:608940
5130	PCYT1A	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
5130	PCYT1A	HP:0000568	Microphthalmia	HP:0040283	ORPHA:85167
5130	PCYT1A	HP:0000568	Microphthalmia	2/4	OMIM:608940
5130	PCYT1A	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
5130	PCYT1A	HP:0000539	Abnormality of refraction	HP:0040282	ORPHA:85167
5130	PCYT1A	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5130	PCYT1A	HP:0000550	Undetectable electroretinogram	1/1	OMIM:608940
5130	PCYT1A	HP:0012514	Lower limb pain	4/4	OMIM:131300
5130	PCYT1A	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:85167
5130	PCYT1A	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:608940
5130	PCYT1A	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
5130	PCYT1A	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5130	PCYT1A	HP:0000545	Myopia	-	OMIM:180100
5130	PCYT1A	HP:0000545	Myopia	2/4	OMIM:608940
5133	PDCD1	HP:0025179	Ground-glass opacification	1/1	OMIM:621004
5133	PDCD1	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
5133	PDCD1	HP:0410243	Abnormal circulating IgM concentration	0/1	OMIM:621004
5133	PDCD1	HP:0410241	Abnormal circulating IgE concentration	0/1	OMIM:621004
5133	PDCD1	HP:0032271	Extrapulmonary tuberculosis	1/1	OMIM:621004
5133	PDCD1	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
5133	PDCD1	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
5133	PDCD1	HP:0001250	Seizure	HP:0040283	ORPHA:536
5133	PDCD1	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
5133	PDCD1	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
5133	PDCD1	HP:0001369	Arthritis	1/1	OMIM:621004
5133	PDCD1	HP:0001369	Arthritis	HP:0040282	ORPHA:536
5133	PDCD1	HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	0/1	OMIM:621004
5133	PDCD1	HP:0033834	Malaise	HP:0040281	ORPHA:536
5133	PDCD1	HP:0012085	Pyuria	HP:0040282	ORPHA:536
5133	PDCD1	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
5133	PDCD1	HP:0025300	Malar rash	HP:0040282	ORPHA:536
5133	PDCD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:621004
5133	PDCD1	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
5133	PDCD1	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:621004
5133	PDCD1	HP:6000901	Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay	1/1	OMIM:621004
5133	PDCD1	HP:0002716	Lymphadenopathy	0/1	OMIM:621004
5133	PDCD1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
5133	PDCD1	HP:0002072	Chorea	HP:0040284	ORPHA:536
5133	PDCD1	HP:0002039	Anorexia	HP:0040281	ORPHA:536
5133	PDCD1	HP:0100592	Peritoneal abscess	1/1	OMIM:621004
5133	PDCD1	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
5133	PDCD1	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
5133	PDCD1	HP:0002240	Hepatomegaly	1/1	OMIM:621004
5133	PDCD1	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
5133	PDCD1	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
5133	PDCD1	HP:0100651	Type I diabetes mellitus	1/1	OMIM:621004
5133	PDCD1	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
5133	PDCD1	HP:0200043	Verrucae	1/1	OMIM:621004
5133	PDCD1	HP:0020102	Pneumocystis jirovecii pneumonia	0/1	OMIM:621004
5133	PDCD1	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
5133	PDCD1	HP:0005528	Bone marrow hypocellularity	1/1	OMIM:621004
5133	PDCD1	HP:0034063	Anti-islet antigen-2 antibody positivity	0/1	OMIM:621004
5133	PDCD1	HP:0034062	Anti-insulin antibody positivity	1/1	OMIM:621004
5133	PDCD1	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
5133	PDCD1	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
5133	PDCD1	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
5133	PDCD1	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
5133	PDCD1	HP:0001945	Fever	HP:0040281	ORPHA:536
5133	PDCD1	HP:0000716	Depression	HP:0040283	ORPHA:536
5133	PDCD1	HP:0011463	Childhood onset	1/1	OMIM:621004
5133	PDCD1	HP:0000790	Hematuria	HP:0040282	ORPHA:536
5133	PDCD1	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
5133	PDCD1	HP:0000822	Hypertension	HP:0040282	ORPHA:536
5133	PDCD1	HP:0000821	Hypothyroidism	1/1	OMIM:621004
5133	PDCD1	HP:0003237	Increased circulating IgG concentration	1/1	OMIM:621004
5133	PDCD1	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
5133	PDCD1	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
5133	PDCD1	HP:0045073	Serositis	HP:0040283	ORPHA:536
5133	PDCD1	HP:0003261	Increased circulating IgA concentration	1/1	OMIM:621004
5133	PDCD1	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
5133	PDCD1	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
5133	PDCD1	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
5133	PDCD1	HP:0001596	Alopecia	HP:0040282	ORPHA:536
5133	PDCD1	HP:0002878	Respiratory failure	1/1	OMIM:621004
5133	PDCD1	HP:0012378	Fatigue	HP:0040281	ORPHA:536
5133	PDCD1	HP:0002958	Immune dysregulation	1/1	OMIM:621004
5133	PDCD1	HP:0000403	Recurrent otitis media	1/1	OMIM:621004
5133	PDCD1	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
5133	PDCD1	HP:0001744	Splenomegaly	1/1	OMIM:621004
5133	PDCD1	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
5133	PDCD1	HP:0001824	Weight loss	HP:0040281	ORPHA:536
5133	PDCD1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
5133	PDCD1	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
5133	PDCD1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
5137	PDE1C	HP:0000006	Autosomal dominant inheritance	-	OMIM:618140
5137	PDE1C	HP:0003581	Adult onset	-	OMIM:618140
5137	PDE1C	HP:0000407	Sensorineural hearing impairment	28/28	OMIM:618140
5137	PDE1C	HP:0001751	Abnormal vestibular function	0/28	OMIM:618140
5138	PDE2A	HP:0003763	Bruxism	1/2	OMIM:619150
5138	PDE2A	HP:0001250	Seizure	2/2	OMIM:619150
5138	PDE2A	HP:0001250	Seizure	HP:0040282	ORPHA:31709
5138	PDE2A	HP:0001251	Ataxia	1/2	OMIM:619150
5138	PDE2A	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:31709
5138	PDE2A	HP:0001263	Global developmental delay	5/5	OMIM:619150
5138	PDE2A	HP:0410263	Brain imaging abnormality	-	ORPHA:31709
5138	PDE2A	HP:0007359	Focal-onset seizure	1/1	OMIM:619150
5138	PDE2A	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:31709
5138	PDE2A	HP:0002527	Falls	2/4	OMIM:619150
5138	PDE2A	HP:0012002	Experiential epileptic aura	HP:0040283	ORPHA:31709
5138	PDE2A	HP:0001332	Dystonia	4/4	OMIM:619150
5138	PDE2A	HP:0001332	Dystonia	HP:0040282	ORPHA:31709
5138	PDE2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:619150
5138	PDE2A	HP:0008936	Axial hypotonia	2/3	OMIM:619150
5138	PDE2A	HP:0002072	Chorea	4/4	OMIM:619150
5138	PDE2A	HP:0002072	Chorea	HP:0040282	ORPHA:31709
5138	PDE2A	HP:0002119	Ventriculomegaly	1/2	OMIM:619150
5138	PDE2A	HP:0003593	Infantile onset	3/3	OMIM:619150
5138	PDE2A	HP:0100785	Insomnia	1/2	OMIM:619150
5138	PDE2A	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:31709
5138	PDE2A	HP:0002376	Developmental regression	3/5	OMIM:619150
5138	PDE2A	HP:0002372	Normal interictal EEG	HP:0040281	ORPHA:31709
5138	PDE2A	HP:0002370	Poor coordination	1/1	OMIM:619150
5138	PDE2A	HP:0002342	Intellectual disability, moderate	1/1	OMIM:619150
5138	PDE2A	HP:0002353	EEG abnormality	1/1	OMIM:619150
5138	PDE2A	HP:0007166	Paroxysmal dyskinesia	3/3	OMIM:619150
5138	PDE2A	HP:0007166	Paroxysmal dyskinesia	HP:0040282	ORPHA:31709
5138	PDE2A	HP:0002305	Athetosis	HP:0040282	ORPHA:31709
5138	PDE2A	HP:0004305	Involuntary movements	HP:0040282	ORPHA:31709
5138	PDE2A	HP:0000733	Motor stereotypy	2/2	OMIM:619150
5138	PDE2A	HP:0000750	Delayed speech and language development	5/5	OMIM:619150
5138	PDE2A	HP:0000748	Inappropriate laughter	1/2	OMIM:619150
5138	PDE2A	HP:0000718	Aggressive behavior	1/2	OMIM:619150
5138	PDE2A	HP:0000273	Facial grimacing	1/1	OMIM:619150
5138	PDE2A	HP:0000252	Microcephaly	1/2	OMIM:619150
5138	PDE2A	HP:0032663	Focal motor status epilepticus	1/3	OMIM:619150
5138	PDE2A	HP:0032755	Focal impaired awareness autonomic seizure	HP:0040282	ORPHA:31709
5138	PDE2A	HP:0011172	Complex febrile seizure	HP:0040283	ORPHA:31709
5139	PDE3A	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1276
5139	PDE3A	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5139	PDE3A	HP:0001293	Cranial nerve compression	-	OMIM:131300
5139	PDE3A	HP:0001252	Hypotonia	2/7	OMIM:615777
5139	PDE3A	HP:0001249	Intellectual disability	5/7	OMIM:615777
5139	PDE3A	HP:0001263	Global developmental delay	-	OMIM:615777
5139	PDE3A	HP:0002515	Waddling gait	54/102	OMIM:131300
5139	PDE3A	HP:0001382	Joint hypermobility	-	OMIM:615777
5139	PDE3A	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5139	PDE3A	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5139	PDE3A	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5139	PDE3A	HP:0001324	Muscle weakness	40/96	OMIM:131300
5139	PDE3A	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5139	PDE3A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5139	PDE3A	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5139	PDE3A	HP:0000006	Autosomal dominant inheritance	-	OMIM:112410
5139	PDE3A	HP:0002650	Scoliosis	12/14	OMIM:131300
5139	PDE3A	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5139	PDE3A	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5139	PDE3A	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5139	PDE3A	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5139	PDE3A	HP:0000175	Cleft palate	2/7	OMIM:615777
5139	PDE3A	HP:0003388	Easy fatigability	36/76	OMIM:131300
5139	PDE3A	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5139	PDE3A	HP:0010579	Cone-shaped epiphysis	HP:0040283	OMIM:112410
5139	PDE3A	HP:0003510	Severe short stature	7/7	OMIM:615777
5139	PDE3A	HP:0002315	Headache	-	OMIM:131300
5139	PDE3A	HP:0004976	Knee dislocation	6/7	OMIM:615777
5139	PDE3A	HP:0009803	Short phalanx of finger	HP:0040281	ORPHA:1276
5139	PDE3A	HP:0009803	Short phalanx of finger	-	OMIM:615777
5139	PDE3A	HP:0009803	Short phalanx of finger	-	OMIM:112410
5139	PDE3A	HP:0009763	Limb pain	63/92	OMIM:131300
5139	PDE3A	HP:0003621	Juvenile onset	-	OMIM:131300
5139	PDE3A	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5139	PDE3A	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5139	PDE3A	HP:6001056	Out-toeing	-	OMIM:131300
5139	PDE3A	HP:0000651	Diplopia	-	OMIM:131300
5139	PDE3A	HP:0001956	Truncal obesity	2/7	OMIM:615777
5139	PDE3A	HP:0001903	Anemia	HP:0040283	OMIM:131300
5139	PDE3A	HP:0010049	Short metacarpal	-	OMIM:615777
5139	PDE3A	HP:0010049	Short metacarpal	-	OMIM:112410
5139	PDE3A	HP:0010049	Short metacarpal	HP:0040281	ORPHA:1276
5139	PDE3A	HP:0000678	Dental crowding	-	OMIM:615777
5139	PDE3A	HP:0000670	Carious teeth	-	OMIM:131300
5139	PDE3A	HP:0011304	Broad thumb	2/7	OMIM:615777
5139	PDE3A	HP:0000668	Hypodontia	-	OMIM:615777
5139	PDE3A	HP:0000664	Synophrys	-	OMIM:615777
5139	PDE3A	HP:0004322	Short stature	47/47	OMIM:112410
5139	PDE3A	HP:0004322	Short stature	HP:0040281	ORPHA:1276
5139	PDE3A	HP:0004396	Poor appetite	-	OMIM:131300
5139	PDE3A	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5139	PDE3A	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5139	PDE3A	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5139	PDE3A	HP:0003026	Short long bone	7/7	OMIM:615777
5139	PDE3A	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5139	PDE3A	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5139	PDE3A	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5139	PDE3A	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5139	PDE3A	HP:0000750	Delayed speech and language development	-	OMIM:615777
5139	PDE3A	HP:0011461	Fetal onset	7/7	OMIM:615777
5139	PDE3A	HP:0000774	Narrow chest	2/7	OMIM:615777
5139	PDE3A	HP:0000926	Platyspondyly	1/7	OMIM:615777
5139	PDE3A	HP:0003180	Flat acetabular roof	-	OMIM:615777
5139	PDE3A	HP:0004482	Relative macrocephaly	-	OMIM:615777
5139	PDE3A	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5139	PDE3A	HP:0000822	Hypertension	47/47	OMIM:112410
5139	PDE3A	HP:0000822	Hypertension	HP:0040281	ORPHA:1276
5139	PDE3A	HP:0000823	Delayed puberty	-	OMIM:131300
5139	PDE3A	HP:0000894	Short clavicles	-	OMIM:615777
5139	PDE3A	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5139	PDE3A	HP:0005863	Type E brachydactyly	46/47	OMIM:112410
5139	PDE3A	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5139	PDE3A	HP:0000286	Epicanthus	1/7	OMIM:615777
5139	PDE3A	HP:0000280	Coarse facial features	2/7	OMIM:615777
5139	PDE3A	HP:0002827	Hip dislocation	3/7	OMIM:615777
5139	PDE3A	HP:0000252	Microcephaly	-	OMIM:615777
5139	PDE3A	HP:0002857	Genu valgum	-	OMIM:131300
5139	PDE3A	HP:0001533	Slender build	-	OMIM:131300
5139	PDE3A	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5139	PDE3A	HP:0007807	Optic nerve compression	-	OMIM:131300
5139	PDE3A	HP:0012368	Flat face	7/7	OMIM:615777
5139	PDE3A	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5139	PDE3A	HP:0000365	Hearing impairment	10/67	OMIM:131300
5139	PDE3A	HP:0000343	Long philtrum	1/7	OMIM:615777
5139	PDE3A	HP:0011001	Increased bone mineral density	-	OMIM:131300
5139	PDE3A	HP:0000311	Round face	2/7	OMIM:615777
5139	PDE3A	HP:0002970	Genu varum	-	OMIM:615777
5139	PDE3A	HP:0000303	Mandibular prognathia	-	OMIM:131300
5139	PDE3A	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5139	PDE3A	HP:0000470	Short neck	1/7	OMIM:615777
5139	PDE3A	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5139	PDE3A	HP:0001763	Pes planus	1/7	OMIM:615777
5139	PDE3A	HP:0001840	Metatarsus adductus	-	OMIM:615777
5139	PDE3A	HP:0000520	Proptosis	2/4	OMIM:131300
5139	PDE3A	HP:0000520	Proptosis	7/7	OMIM:615777
5139	PDE3A	HP:0000592	Blue sclerae	2/7	OMIM:615777
5139	PDE3A	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5139	PDE3A	HP:0012514	Lower limb pain	4/4	OMIM:131300
5144	PDE4D	HP:0001156	Brachydactyly	HP:0040281	ORPHA:439822
5144	PDE4D	HP:0001156	Brachydactyly	HP:0040281	ORPHA:950
5144	PDE4D	HP:0001156	Brachydactyly	4/4	OMIM:614613
5144	PDE4D	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5144	PDE4D	HP:0001293	Cranial nerve compression	-	OMIM:131300
5144	PDE4D	HP:0001250	Seizure	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0001252	Hypotonia	2/7	OMIM:615777
5144	PDE4D	HP:0001249	Intellectual disability	4/4	OMIM:614613
5144	PDE4D	HP:0001249	Intellectual disability	HP:0040281	ORPHA:439822
5144	PDE4D	HP:0001249	Intellectual disability	HP:0040281	ORPHA:950
5144	PDE4D	HP:0001249	Intellectual disability	5/7	OMIM:615777
5144	PDE4D	HP:0001263	Global developmental delay	-	OMIM:614613
5144	PDE4D	HP:0001263	Global developmental delay	-	OMIM:615777
5144	PDE4D	HP:0001230	Broad metacarpals	HP:0040281	ORPHA:439822
5144	PDE4D	HP:0006059	Cone-shaped metacarpal epiphyses	HP:0040282	ORPHA:950
5144	PDE4D	HP:0006009	Broad phalanx	HP:0040281	ORPHA:439822
5144	PDE4D	HP:0010978	Abnormality of immune system physiology	HP:0040282	ORPHA:950
5144	PDE4D	HP:0002515	Waddling gait	54/102	OMIM:131300
5144	PDE4D	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0002516	Increased intracranial pressure	2/4	OMIM:614613
5144	PDE4D	HP:0001373	Joint dislocation	HP:0040282	ORPHA:950
5144	PDE4D	HP:0000055	Abnormal female external genitalia morphology	HP:0040282	ORPHA:950
5144	PDE4D	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0001382	Joint hypermobility	-	OMIM:615777
5144	PDE4D	HP:0000047	Hypospadias	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0000047	Hypospadias	-	OMIM:614613
5144	PDE4D	HP:0002684	Thickened calvaria	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5144	PDE4D	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:950
5144	PDE4D	HP:0000028	Cryptorchidism	-	OMIM:614613
5144	PDE4D	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5144	PDE4D	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:439822
5144	PDE4D	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5144	PDE4D	HP:0001324	Muscle weakness	40/96	OMIM:131300
5144	PDE4D	HP:0002673	Coxa valga	HP:0040282	ORPHA:950
5144	PDE4D	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5144	PDE4D	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5144	PDE4D	HP:0000006	Autosomal dominant inheritance	-	OMIM:614613
5144	PDE4D	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5144	PDE4D	HP:0002650	Scoliosis	HP:0040283	ORPHA:950
5144	PDE4D	HP:0002650	Scoliosis	12/14	OMIM:131300
5144	PDE4D	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5144	PDE4D	HP:0002615	Hypotension	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5144	PDE4D	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5144	PDE4D	HP:0000194	Open mouth	HP:0040281	ORPHA:950
5144	PDE4D	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5144	PDE4D	HP:0000175	Cleft palate	2/7	OMIM:615777
5144	PDE4D	HP:0000135	Hypogonadism	HP:0040283	ORPHA:950
5144	PDE4D	HP:0002003	Large forehead	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0002007	Frontal bossing	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0002007	Frontal bossing	HP:0040282	ORPHA:950
5144	PDE4D	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:950
5144	PDE4D	HP:0003301	Irregular vertebral endplates	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0011800	Midface retrusion	HP:0040281	ORPHA:950
5144	PDE4D	HP:0011800	Midface retrusion	-	OMIM:614613
5144	PDE4D	HP:0003388	Easy fatigability	36/76	OMIM:131300
5144	PDE4D	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5144	PDE4D	HP:0005916	Abnormal metacarpal morphology	HP:0040281	ORPHA:950
5144	PDE4D	HP:0003416	Spinal canal stenosis	HP:0040282	ORPHA:950
5144	PDE4D	HP:0003416	Spinal canal stenosis	-	OMIM:614613
5144	PDE4D	HP:0010579	Cone-shaped epiphysis	HP:0040281	ORPHA:950
5144	PDE4D	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:439822
5144	PDE4D	HP:0010579	Cone-shaped epiphysis	4/4	OMIM:614613
5144	PDE4D	HP:0003577	Congenital onset	4/4	OMIM:614613
5144	PDE4D	HP:0002286	Fair hair	-	OMIM:614613
5144	PDE4D	HP:0002297	Red hair	-	OMIM:614613
5144	PDE4D	HP:0010665	Bilateral coxa valga	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0010655	Epiphyseal stippling	HP:0040281	ORPHA:950
5144	PDE4D	HP:0003510	Severe short stature	7/7	OMIM:615777
5144	PDE4D	HP:0003502	Mild short stature	HP:0040283	OMIM:614613
5144	PDE4D	HP:0002315	Headache	-	OMIM:131300
5144	PDE4D	HP:0004976	Knee dislocation	6/7	OMIM:615777
5144	PDE4D	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:950
5144	PDE4D	HP:0010807	Open bite	HP:0040283	ORPHA:950
5144	PDE4D	HP:0009824	Upper limb undergrowth	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0009803	Short phalanx of finger	-	OMIM:615777
5144	PDE4D	HP:0009803	Short phalanx of finger	HP:0040281	ORPHA:439822
5144	PDE4D	HP:0009803	Short phalanx of finger	4/4	OMIM:614613
5144	PDE4D	HP:0008457	Caudal interpedicular narrowing	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0010743	Short metatarsal	HP:0040281	ORPHA:950
5144	PDE4D	HP:0010743	Short metatarsal	HP:0040281	ORPHA:439822
5144	PDE4D	HP:0010743	Short metatarsal	4/4	OMIM:614613
5144	PDE4D	HP:0009763	Limb pain	63/92	OMIM:131300
5144	PDE4D	HP:0003621	Juvenile onset	-	OMIM:131300
5144	PDE4D	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5144	PDE4D	HP:0004233	Advanced ossification of carpal bones	-	OMIM:614613
5144	PDE4D	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5144	PDE4D	HP:0000635	Blue irides	-	OMIM:614613
5144	PDE4D	HP:0000637	Long palpebral fissure	HP:0040283	ORPHA:439822
5144	PDE4D	HP:6001056	Out-toeing	-	OMIM:131300
5144	PDE4D	HP:0000651	Diplopia	-	OMIM:131300
5144	PDE4D	HP:0001956	Truncal obesity	2/7	OMIM:615777
5144	PDE4D	HP:0000601	Hypotelorism	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0001903	Anemia	HP:0040283	OMIM:131300
5144	PDE4D	HP:0010049	Short metacarpal	HP:0040281	ORPHA:950
5144	PDE4D	HP:0010049	Short metacarpal	-	OMIM:615777
5144	PDE4D	HP:0010049	Short metacarpal	HP:0040281	ORPHA:439822
5144	PDE4D	HP:0010049	Short metacarpal	4/4	OMIM:614613
5144	PDE4D	HP:0010055	Broad hallux	HP:0040281	ORPHA:439822
5144	PDE4D	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:950
5144	PDE4D	HP:0000678	Dental crowding	-	OMIM:615777
5144	PDE4D	HP:0000670	Carious teeth	-	OMIM:131300
5144	PDE4D	HP:0011304	Broad thumb	2/7	OMIM:615777
5144	PDE4D	HP:0000668	Hypodontia	-	OMIM:615777
5144	PDE4D	HP:0000664	Synophrys	-	OMIM:615777
5144	PDE4D	HP:0004322	Short stature	HP:0040281	ORPHA:950
5144	PDE4D	HP:0005616	Accelerated skeletal maturation	HP:0040281	ORPHA:950
5144	PDE4D	HP:0005616	Accelerated skeletal maturation	HP:0040282	ORPHA:439822
5144	PDE4D	HP:0004396	Poor appetite	-	OMIM:131300
5144	PDE4D	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5144	PDE4D	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5144	PDE4D	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5144	PDE4D	HP:0003026	Short long bone	7/7	OMIM:615777
5144	PDE4D	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5144	PDE4D	HP:0003022	Hypoplasia of the ulna	HP:0040282	ORPHA:950
5144	PDE4D	HP:0000752	Hyperactivity	-	OMIM:614613
5144	PDE4D	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5144	PDE4D	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5144	PDE4D	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5144	PDE4D	HP:0000750	Delayed speech and language development	4/4	OMIM:614613
5144	PDE4D	HP:0000750	Delayed speech and language development	-	OMIM:615777
5144	PDE4D	HP:0000717	Autism	-	OMIM:614613
5144	PDE4D	HP:0000729	Autistic behavior	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0011461	Fetal onset	7/7	OMIM:615777
5144	PDE4D	HP:0000774	Narrow chest	2/7	OMIM:615777
5144	PDE4D	HP:0003196	Short nose	HP:0040281	ORPHA:439822
5144	PDE4D	HP:0003196	Short nose	HP:0040281	ORPHA:950
5144	PDE4D	HP:0003196	Short nose	4/4	OMIM:614613
5144	PDE4D	HP:0000926	Platyspondyly	1/7	OMIM:615777
5144	PDE4D	HP:0003180	Flat acetabular roof	-	OMIM:615777
5144	PDE4D	HP:0004482	Relative macrocephaly	-	OMIM:615777
5144	PDE4D	HP:0003165	Elevated circulating parathyroid hormone level	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5144	PDE4D	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:950
5144	PDE4D	HP:0000851	Congenital hypothyroidism	HP:0040283	OMIM:614613
5144	PDE4D	HP:0000819	Diabetes mellitus	HP:0040283	OMIM:614613
5144	PDE4D	HP:0000823	Delayed puberty	-	OMIM:131300
5144	PDE4D	HP:0040071	Abnormal morphology of ulna	HP:0040282	ORPHA:950
5144	PDE4D	HP:0000894	Short clavicles	-	OMIM:615777
5144	PDE4D	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5144	PDE4D	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:950
5144	PDE4D	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5144	PDE4D	HP:0045025	Narrow palpebral fissure	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:950
5144	PDE4D	HP:0000940	Abnormal diaphysis morphology	HP:0040282	ORPHA:950
5144	PDE4D	HP:0005819	Short middle phalanx of finger	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0000286	Epicanthus	HP:0040283	ORPHA:950
5144	PDE4D	HP:0000286	Epicanthus	1/7	OMIM:615777
5144	PDE4D	HP:0000283	Broad face	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0000280	Coarse facial features	2/7	OMIM:615777
5144	PDE4D	HP:0000280	Coarse facial features	HP:0040282	ORPHA:439822
5144	PDE4D	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:950
5144	PDE4D	HP:0000272	Malar flattening	-	OMIM:614613
5144	PDE4D	HP:0000272	Malar flattening	HP:0040281	ORPHA:439822
5144	PDE4D	HP:0002818	Abnormal morphology of the radius	HP:0040282	ORPHA:950
5144	PDE4D	HP:0002827	Hip dislocation	3/7	OMIM:615777
5144	PDE4D	HP:0002823	Abnormal femur morphology	HP:0040282	ORPHA:950
5144	PDE4D	HP:0000252	Microcephaly	-	OMIM:615777
5144	PDE4D	HP:0000248	Brachycephaly	HP:0040282	ORPHA:950
5144	PDE4D	HP:0000248	Brachycephaly	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0002857	Genu valgum	-	OMIM:131300
5144	PDE4D	HP:0001533	Slender build	-	OMIM:131300
5144	PDE4D	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:439822
5144	PDE4D	HP:0001511	Intrauterine growth retardation	1/4	OMIM:614613
5144	PDE4D	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5144	PDE4D	HP:0001513	Obesity	-	OMIM:614613
5144	PDE4D	HP:0001513	Obesity	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0007807	Optic nerve compression	-	OMIM:131300
5144	PDE4D	HP:0012368	Flat face	HP:0040283	ORPHA:950
5144	PDE4D	HP:0012368	Flat face	7/7	OMIM:615777
5144	PDE4D	HP:0012368	Flat face	HP:0040281	ORPHA:439822
5144	PDE4D	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5144	PDE4D	HP:0006487	Bowing of the long bones	HP:0040282	ORPHA:950
5144	PDE4D	HP:0000365	Hearing impairment	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0000365	Hearing impairment	HP:0040282	ORPHA:950
5144	PDE4D	HP:0000365	Hearing impairment	10/67	OMIM:131300
5144	PDE4D	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0000343	Long philtrum	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0000343	Long philtrum	1/7	OMIM:615777
5144	PDE4D	HP:0011001	Increased bone mineral density	-	OMIM:131300
5144	PDE4D	HP:0000347	Micrognathia	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0002983	Micromelia	HP:0040282	ORPHA:950
5144	PDE4D	HP:0000316	Hypertelorism	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0000316	Hypertelorism	HP:0040282	ORPHA:950
5144	PDE4D	HP:0000311	Round face	2/7	OMIM:615777
5144	PDE4D	HP:0000311	Round face	-	OMIM:614613
5144	PDE4D	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:950
5144	PDE4D	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:439822
5144	PDE4D	HP:0000322	Short philtrum	HP:0040282	ORPHA:439822
5144	PDE4D	HP:0002984	Hypoplasia of the radius	HP:0040282	ORPHA:950
5144	PDE4D	HP:0002970	Genu varum	HP:0040282	ORPHA:950
5144	PDE4D	HP:0002970	Genu varum	-	OMIM:615777
5144	PDE4D	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:950
5144	PDE4D	HP:0000303	Mandibular prognathia	-	OMIM:131300
5144	PDE4D	HP:0000303	Mandibular prognathia	1/4	OMIM:614613
5144	PDE4D	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:439822
5144	PDE4D	HP:0005274	Prominent nasal tip	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:439822
5144	PDE4D	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:950
5144	PDE4D	HP:0005280	Depressed nasal bridge	4/4	OMIM:614613
5144	PDE4D	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5144	PDE4D	HP:0000463	Anteverted nares	HP:0040282	ORPHA:950
5144	PDE4D	HP:0000463	Anteverted nares	-	OMIM:614613
5144	PDE4D	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:950
5144	PDE4D	HP:0000470	Short neck	1/7	OMIM:615777
5144	PDE4D	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5144	PDE4D	HP:0001769	Broad foot	HP:0040281	ORPHA:439822
5144	PDE4D	HP:0001763	Pes planus	1/7	OMIM:615777
5144	PDE4D	HP:0001763	Pes planus	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0001783	Broad metatarsal	HP:0040281	ORPHA:439822
5144	PDE4D	HP:0000448	Prominent nose	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:950
5144	PDE4D	HP:0001840	Metatarsus adductus	-	OMIM:615777
5144	PDE4D	HP:0000520	Proptosis	2/4	OMIM:131300
5144	PDE4D	HP:0000520	Proptosis	7/7	OMIM:615777
5144	PDE4D	HP:0000506	Telecanthus	HP:0040282	ORPHA:950
5144	PDE4D	HP:0000508	Ptosis	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0000505	Visual impairment	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0001831	Short toe	HP:0040281	ORPHA:950
5144	PDE4D	HP:0001831	Short toe	HP:0040281	ORPHA:439822
5144	PDE4D	HP:0000592	Blue sclerae	2/7	OMIM:615777
5144	PDE4D	HP:0011220	Prominent forehead	HP:0040282	ORPHA:950
5144	PDE4D	HP:0000565	Esotropia	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0000540	Hypermetropia	HP:0040283	ORPHA:439822
5144	PDE4D	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5144	PDE4D	HP:0012514	Lower limb pain	4/4	OMIM:131300
5145	PDE6A	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5145	PDE6A	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
5145	PDE6A	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5145	PDE6A	HP:0000007	Autosomal recessive inheritance	-	OMIM:613810
5145	PDE6A	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5145	PDE6A	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5145	PDE6A	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
5145	PDE6A	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5145	PDE6A	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
5145	PDE6A	HP:0003621	Juvenile onset	8/19	OMIM:180100
5145	PDE6A	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
5145	PDE6A	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
5145	PDE6A	HP:0000618	Blindness	HP:0040281	ORPHA:791
5145	PDE6A	HP:0000613	Photophobia	HP:0040281	ORPHA:791
5145	PDE6A	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
5145	PDE6A	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
5145	PDE6A	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
5145	PDE6A	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
5145	PDE6A	HP:0000662	Nyctalopia	4/4	OMIM:613810
5145	PDE6A	HP:0000662	Nyctalopia	26/28	OMIM:180100
5145	PDE6A	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
5145	PDE6A	HP:0011463	Childhood onset	3/19	OMIM:180100
5145	PDE6A	HP:0011462	Young adult onset	8/19	OMIM:180100
5145	PDE6A	HP:0030786	Photopsia	HP:0040283	ORPHA:791
5145	PDE6A	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
5145	PDE6A	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
5145	PDE6A	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
5145	PDE6A	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
5145	PDE6A	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
5145	PDE6A	HP:0007787	Posterior subcapsular cataract	2/4	OMIM:613810
5145	PDE6A	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
5145	PDE6A	HP:0007737	Bone spicule pigmentation of the retina	4/4	OMIM:613810
5145	PDE6A	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5145	PDE6A	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
5145	PDE6A	HP:0007843	Attenuation of retinal blood vessels	4/4	OMIM:613810
5145	PDE6A	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5145	PDE6A	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
5145	PDE6A	HP:0007994	Peripheral visual field loss	4/4	OMIM:613810
5145	PDE6A	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
5145	PDE6A	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
5145	PDE6A	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
5145	PDE6A	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5145	PDE6A	HP:0000510	Rod-cone dystrophy	-	OMIM:613810
5145	PDE6A	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
5145	PDE6A	HP:0000512	Abnormal electroretinogram	-	OMIM:613810
5145	PDE6A	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
5145	PDE6A	HP:0000505	Visual impairment	4/4	OMIM:613810
5145	PDE6A	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
5145	PDE6A	HP:0000580	Pigmentary retinopathy	4/4	OMIM:613810
5145	PDE6A	HP:0000575	Scotoma	5/18	OMIM:180100
5145	PDE6A	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
5145	PDE6A	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
5145	PDE6A	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
5145	PDE6A	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
5145	PDE6A	HP:0000543	Optic disc pallor	4/4	OMIM:613810
5145	PDE6A	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5145	PDE6A	HP:0000545	Myopia	-	OMIM:180100
5146	PDE6C	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5146	PDE6C	HP:0001103	Abnormal macular morphology	HP:0040283	ORPHA:49382
5146	PDE6C	HP:0012043	Pendular nystagmus	HP:0040281	ORPHA:49382
5146	PDE6C	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5146	PDE6C	HP:0000007	Autosomal recessive inheritance	-	OMIM:613093
5146	PDE6C	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5146	PDE6C	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5146	PDE6C	HP:0007663	Reduced visual acuity	7/7	OMIM:613093
5146	PDE6C	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5146	PDE6C	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:49382
5146	PDE6C	HP:0007641	Dyschromatopsia	7/7	OMIM:613093
5146	PDE6C	HP:0003621	Juvenile onset	8/19	OMIM:180100
5146	PDE6C	HP:0000639	Nystagmus	7/7	OMIM:613093
5146	PDE6C	HP:0000613	Photophobia	HP:0040281	ORPHA:1871
5146	PDE6C	HP:0000613	Photophobia	5/7	OMIM:613093
5146	PDE6C	HP:0000613	Photophobia	HP:0040281	ORPHA:49382
5146	PDE6C	HP:0000603	Central scotoma	HP:0040282	ORPHA:49382
5146	PDE6C	HP:0030465	Undetectable light-adapted electroretinogram	HP:0040281	ORPHA:49382
5146	PDE6C	HP:0030465	Undetectable light-adapted electroretinogram	5/6	OMIM:613093
5146	PDE6C	HP:0000662	Nyctalopia	26/28	OMIM:180100
5146	PDE6C	HP:0030620	Inner retinal layer loss on macular OCT	HP:0040281	ORPHA:49382
5146	PDE6C	HP:0030584	Color vision test abnormality	HP:0040281	ORPHA:49382
5146	PDE6C	HP:0011463	Childhood onset	7/7	OMIM:613093
5146	PDE6C	HP:0011463	Childhood onset	3/19	OMIM:180100
5146	PDE6C	HP:0011462	Young adult onset	8/19	OMIM:180100
5146	PDE6C	HP:0030825	Absent foveal reflex	HP:0040282	ORPHA:49382
5146	PDE6C	HP:0030825	Absent foveal reflex	5/7	OMIM:613093
5146	PDE6C	HP:0007722	Retinal pigment epithelial atrophy	HP:0040284	ORPHA:49382
5146	PDE6C	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1871
5146	PDE6C	HP:0025549	Eccentric visual fixation	HP:0040283	ORPHA:49382
5146	PDE6C	HP:0007750	Hypoplasia of the fovea	HP:0040282	ORPHA:49382
5146	PDE6C	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5146	PDE6C	HP:0007695	Abnormal pupillary light reflex	HP:0040283	ORPHA:49382
5146	PDE6C	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5146	PDE6C	HP:0007843	Attenuation of retinal blood vessels	HP:0040283	ORPHA:49382
5146	PDE6C	HP:0007814	Retinal pigment epithelial mottling	HP:0040283	ORPHA:49382
5146	PDE6C	HP:0007803	Monochromacy	HP:0040281	ORPHA:49382
5146	PDE6C	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5146	PDE6C	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:1871
5146	PDE6C	HP:0000505	Visual impairment	HP:0040281	ORPHA:1871
5146	PDE6C	HP:0000505	Visual impairment	-	OMIM:613093
5146	PDE6C	HP:0000575	Scotoma	5/18	OMIM:180100
5146	PDE6C	HP:0000540	Hypermetropia	HP:0040282	ORPHA:49382
5146	PDE6C	HP:0000539	Abnormality of refraction	HP:0040281	ORPHA:49382
5146	PDE6C	HP:0000551	Color vision defect	HP:0040281	ORPHA:1871
5146	PDE6C	HP:0000551	Color vision defect	HP:0040281	ORPHA:49382
5146	PDE6C	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:613093
5146	PDE6C	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5146	PDE6C	HP:0000545	Myopia	-	OMIM:180100
5146	PDE6C	HP:0000545	Myopia	HP:0040282	ORPHA:49382
5147	PDE6D	HP:0001156	Brachydactyly	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0001162	Postaxial hand polydactyly	11/11	OMIM:615665
5147	PDE6D	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
5147	PDE6D	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2754
5147	PDE6D	HP:0001159	Syndactyly	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0002444	Hypothalamic hamartoma	HP:0040283	ORPHA:2754
5147	PDE6D	HP:0002419	Molar tooth sign on MRI	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0002419	Molar tooth sign on MRI	11/11	OMIM:615665
5147	PDE6D	HP:0001290	Generalized hypotonia	1/1	OMIM:615665
5147	PDE6D	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
5147	PDE6D	HP:0001288	Gait disturbance	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0001250	Seizure	HP:0040283	ORPHA:2754
5147	PDE6D	HP:0001250	Seizure	HP:0040283	ORPHA:475
5147	PDE6D	HP:0001252	Hypotonia	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
5147	PDE6D	HP:0001251	Ataxia	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0001251	Ataxia	HP:0040281	ORPHA:475
5147	PDE6D	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
5147	PDE6D	HP:0001263	Global developmental delay	-	OMIM:615665
5147	PDE6D	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
5147	PDE6D	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
5147	PDE6D	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2754
5147	PDE6D	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2754
5147	PDE6D	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
5147	PDE6D	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:2754
5147	PDE6D	HP:0000089	Renal hypoplasia	1/3	OMIM:615665
5147	PDE6D	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
5147	PDE6D	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0006145	Central Y-shaped metacarpal	HP:0040283	ORPHA:2754
5147	PDE6D	HP:0000007	Autosomal recessive inheritance	-	OMIM:615665
5147	PDE6D	HP:0001337	Tremor	HP:0040283	ORPHA:475
5147	PDE6D	HP:0001337	Tremor	HP:0040283	ORPHA:2754
5147	PDE6D	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
5147	PDE6D	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:2754
5147	PDE6D	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
5147	PDE6D	HP:0000180	Lobulated tongue	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0000199	Tongue nodules	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0000175	Cleft palate	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
5147	PDE6D	HP:0000104	Renal agenesis	HP:0040283	ORPHA:2754
5147	PDE6D	HP:0004691	2-3 toe syndactyly	1/3	OMIM:615665
5147	PDE6D	HP:0002007	Frontal bossing	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
5147	PDE6D	HP:0011802	Hamartoma of tongue	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
5147	PDE6D	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:615665
5147	PDE6D	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
5147	PDE6D	HP:0002104	Apnea	HP:0040281	ORPHA:475
5147	PDE6D	HP:0002104	Apnea	HP:0040283	ORPHA:2754
5147	PDE6D	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
5147	PDE6D	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:2754
5147	PDE6D	HP:0003577	Congenital onset	1/1	OMIM:615665
5147	PDE6D	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
5147	PDE6D	HP:0007036	Hypoplasia of olfactory tract	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0002335	Agenesis of cerebellar vermis	1/1	OMIM:615665
5147	PDE6D	HP:0007112	Temporal cortical atrophy	1/1	OMIM:615665
5147	PDE6D	HP:0009084	Midline notch of upper alveolar ridge	HP:0040283	ORPHA:2754
5147	PDE6D	HP:0000639	Nystagmus	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
5147	PDE6D	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
5147	PDE6D	HP:0000657	Oculomotor apraxia	1/1	OMIM:615665
5147	PDE6D	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
5147	PDE6D	HP:0001999	Abnormal facial shape	-	OMIM:615665
5147	PDE6D	HP:0004322	Short stature	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
5147	PDE6D	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
5147	PDE6D	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
5147	PDE6D	HP:0040019	Finger clinodactyly	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0100260	Mesoaxial polydactyly	HP:0040283	ORPHA:2754
5147	PDE6D	HP:0100258	Preaxial polydactyly	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0000286	Epicanthus	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0000276	Long face	HP:0040282	ORPHA:475
5147	PDE6D	HP:0000276	Long face	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
5147	PDE6D	HP:0000218	High palate	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
5147	PDE6D	HP:0002876	Episodic tachypnea	HP:0040283	ORPHA:2754
5147	PDE6D	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
5147	PDE6D	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0001511	Intrauterine growth retardation	-	OMIM:615665
5147	PDE6D	HP:0001510	Growth delay	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
5147	PDE6D	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
5147	PDE6D	HP:0000347	Micrognathia	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2754
5147	PDE6D	HP:0007973	Retinal dysplasia	-	OMIM:615665
5147	PDE6D	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0000486	Strabismus	HP:0040283	ORPHA:475
5147	PDE6D	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
5147	PDE6D	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
5147	PDE6D	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:2754
5147	PDE6D	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
5147	PDE6D	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:2754
5147	PDE6D	HP:0000508	Ptosis	HP:0040283	ORPHA:475
5147	PDE6D	HP:0001830	Postaxial foot polydactyly	11/11	OMIM:615665
5147	PDE6D	HP:0000589	Coloboma	1/3	OMIM:615665
5147	PDE6D	HP:0000568	Microphthalmia	2/3	OMIM:615665
5147	PDE6D	HP:0000565	Esotropia	HP:0040282	ORPHA:2754
5147	PDE6D	HP:0000550	Undetectable electroretinogram	1/2	OMIM:615665
5148	PDE6G	HP:0001133	Constriction of peripheral visual field	-	OMIM:268000
5148	PDE6G	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5148	PDE6G	HP:0001133	Constriction of peripheral visual field	4/4	OMIM:613582
5148	PDE6G	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
5148	PDE6G	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5148	PDE6G	HP:0000007	Autosomal recessive inheritance	-	OMIM:268000
5148	PDE6G	HP:0000007	Autosomal recessive inheritance	-	OMIM:613582
5148	PDE6G	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5148	PDE6G	HP:0000006	Autosomal dominant inheritance	-	OMIM:268000
5148	PDE6G	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5148	PDE6G	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
5148	PDE6G	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5148	PDE6G	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
5148	PDE6G	HP:0007663	Reduced visual acuity	6/6	OMIM:613582
5148	PDE6G	HP:0001419	X-linked recessive inheritance	-	OMIM:268000
5148	PDE6G	HP:0003621	Juvenile onset	8/19	OMIM:180100
5148	PDE6G	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
5148	PDE6G	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
5148	PDE6G	HP:0000618	Blindness	HP:0040281	ORPHA:791
5148	PDE6G	HP:0000613	Photophobia	HP:0040281	ORPHA:791
5148	PDE6G	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
5148	PDE6G	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
5148	PDE6G	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
5148	PDE6G	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
5148	PDE6G	HP:0000662	Nyctalopia	-	OMIM:268000
5148	PDE6G	HP:0000662	Nyctalopia	26/28	OMIM:180100
5148	PDE6G	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
5148	PDE6G	HP:0011463	Childhood onset	3/19	OMIM:180100
5148	PDE6G	HP:0011463	Childhood onset	-	OMIM:613582
5148	PDE6G	HP:0011462	Young adult onset	8/19	OMIM:180100
5148	PDE6G	HP:0030786	Photopsia	HP:0040283	ORPHA:791
5148	PDE6G	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
5148	PDE6G	HP:0011505	Cystoid macular edema	-	OMIM:613582
5148	PDE6G	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
5148	PDE6G	HP:0030825	Absent foveal reflex	-	OMIM:613582
5148	PDE6G	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
5148	PDE6G	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
5148	PDE6G	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
5148	PDE6G	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
5148	PDE6G	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5148	PDE6G	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:613582
5148	PDE6G	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
5148	PDE6G	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:613582
5148	PDE6G	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5148	PDE6G	HP:0031605	Abnormality of fundus pigmentation	-	OMIM:268000
5148	PDE6G	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
5148	PDE6G	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
5148	PDE6G	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
5148	PDE6G	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
5148	PDE6G	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5148	PDE6G	HP:0000510	Rod-cone dystrophy	20/20	OMIM:268000
5148	PDE6G	HP:0000510	Rod-cone dystrophy	-	OMIM:613582
5148	PDE6G	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
5148	PDE6G	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
5148	PDE6G	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
5148	PDE6G	HP:0000575	Scotoma	5/18	OMIM:180100
5148	PDE6G	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
5148	PDE6G	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
5148	PDE6G	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
5148	PDE6G	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
5148	PDE6G	HP:0000543	Optic disc pallor	-	OMIM:613582
5148	PDE6G	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5148	PDE6G	HP:0000545	Myopia	-	OMIM:180100
5149	PDE6H	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5149	PDE6H	HP:0001103	Abnormal macular morphology	HP:0040283	ORPHA:49382
5149	PDE6H	HP:0012043	Pendular nystagmus	HP:0040281	ORPHA:49382
5149	PDE6H	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5149	PDE6H	HP:0000007	Autosomal recessive inheritance	-	OMIM:610024
5149	PDE6H	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5149	PDE6H	HP:0000006	Autosomal dominant inheritance	-	OMIM:610024
5149	PDE6H	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5149	PDE6H	HP:0007663	Reduced visual acuity	3/3	OMIM:610024
5149	PDE6H	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5149	PDE6H	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:49382
5149	PDE6H	HP:0007641	Dyschromatopsia	3/3	OMIM:610024
5149	PDE6H	HP:0003621	Juvenile onset	8/19	OMIM:180100
5149	PDE6H	HP:0003621	Juvenile onset	-	OMIM:610024
5149	PDE6H	HP:0000639	Nystagmus	2/3	OMIM:610024
5149	PDE6H	HP:0000613	Photophobia	3/3	OMIM:610024
5149	PDE6H	HP:0000613	Photophobia	HP:0040281	ORPHA:49382
5149	PDE6H	HP:0000603	Central scotoma	HP:0040282	ORPHA:49382
5149	PDE6H	HP:0030465	Undetectable light-adapted electroretinogram	HP:0040281	ORPHA:49382
5149	PDE6H	HP:0030473	Abnormal light-adapted flicker electroretinogram	3/3	OMIM:610024
5149	PDE6H	HP:0000662	Nyctalopia	0/2	OMIM:610024
5149	PDE6H	HP:0000662	Nyctalopia	26/28	OMIM:180100
5149	PDE6H	HP:0030620	Inner retinal layer loss on macular OCT	HP:0040281	ORPHA:49382
5149	PDE6H	HP:0030584	Color vision test abnormality	HP:0040281	ORPHA:49382
5149	PDE6H	HP:0011463	Childhood onset	3/19	OMIM:180100
5149	PDE6H	HP:0011462	Young adult onset	8/19	OMIM:180100
5149	PDE6H	HP:0030825	Absent foveal reflex	HP:0040282	ORPHA:49382
5149	PDE6H	HP:0008020	Cone dystrophy	-	OMIM:610024
5149	PDE6H	HP:0007722	Retinal pigment epithelial atrophy	HP:0040284	ORPHA:49382
5149	PDE6H	HP:0025549	Eccentric visual fixation	HP:0040283	ORPHA:49382
5149	PDE6H	HP:0007750	Hypoplasia of the fovea	HP:0040282	ORPHA:49382
5149	PDE6H	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5149	PDE6H	HP:0007695	Abnormal pupillary light reflex	HP:0040283	ORPHA:49382
5149	PDE6H	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5149	PDE6H	HP:0007843	Attenuation of retinal blood vessels	HP:0040283	ORPHA:49382
5149	PDE6H	HP:0007814	Retinal pigment epithelial mottling	HP:0040283	ORPHA:49382
5149	PDE6H	HP:0007803	Monochromacy	HP:0040281	ORPHA:49382
5149	PDE6H	HP:0011003	High myopia	3/3	OMIM:610024
5149	PDE6H	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5149	PDE6H	HP:0000575	Scotoma	5/18	OMIM:180100
5149	PDE6H	HP:0000540	Hypermetropia	HP:0040282	ORPHA:49382
5149	PDE6H	HP:0000539	Abnormality of refraction	HP:0040281	ORPHA:49382
5149	PDE6H	HP:0000551	Color vision defect	HP:0040281	ORPHA:49382
5149	PDE6H	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5149	PDE6H	HP:0000545	Myopia	-	OMIM:180100
5149	PDE6H	HP:0000545	Myopia	HP:0040282	ORPHA:49382
5155	PDGFB	HP:0002461	Cerebellar dentate nucleus calcification	-	OMIM:213600
5155	PDGFB	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:1980
5155	PDGFB	HP:0007256	Abnormal pyramidal sign	HP:0040283	OMIM:213600
5155	PDGFB	HP:0002406	Limb dysmetria	-	OMIM:213600
5155	PDGFB	HP:0001269	Hemiparesis	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0001268	Mental deterioration	-	OMIM:213600
5155	PDGFB	HP:0001288	Gait disturbance	-	OMIM:213600
5155	PDGFB	HP:0001288	Gait disturbance	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0001279	Syncope	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0001250	Seizure	HP:0040282	ORPHA:1980
5155	PDGFB	HP:0001250	Seizure	2/8	OMIM:213600
5155	PDGFB	HP:0001250	Seizure	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0001251	Ataxia	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:1980
5155	PDGFB	HP:0001260	Dysarthria	1/31	OMIM:615483
5155	PDGFB	HP:0001260	Dysarthria	1/8	OMIM:213600
5155	PDGFB	HP:0001263	Global developmental delay	2/8	OMIM:213600
5155	PDGFB	HP:0001262	Excessive daytime somnolence	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0010997	Chromosomal breakage induced by ionizing radiation	HP:0040281	ORPHA:2495
5155	PDGFB	HP:0007352	Cerebellar calcifications	HP:0040283	ORPHA:1980
5155	PDGFB	HP:0007352	Cerebellar calcifications	11/31	OMIM:615483
5155	PDGFB	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0002514	Cerebral calcification	12/31	OMIM:615483
5155	PDGFB	HP:0002512	Brain stem compression	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0003829	Typified by incomplete penetrance	-	OMIM:607174
5155	PDGFB	HP:0002504	Calcification of the small brain vessels	-	OMIM:213600
5155	PDGFB	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0000020	Urinary incontinence	-	OMIM:213600
5155	PDGFB	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0001350	Slurred speech	HP:0040283	ORPHA:1980
5155	PDGFB	HP:0001347	Hyperreflexia	-	OMIM:213600
5155	PDGFB	HP:0001332	Dystonia	HP:0040283	ORPHA:1980
5155	PDGFB	HP:0001332	Dystonia	-	OMIM:213600
5155	PDGFB	HP:0001342	Cerebral hemorrhage	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0000012	Urinary urgency	HP:0040283	ORPHA:1980
5155	PDGFB	HP:0001337	Tremor	HP:0040282	ORPHA:1980
5155	PDGFB	HP:0001337	Tremor	-	OMIM:213600
5155	PDGFB	HP:0000006	Autosomal dominant inheritance	-	OMIM:607174
5155	PDGFB	HP:0000006	Autosomal dominant inheritance	-	OMIM:213600
5155	PDGFB	HP:0000006	Autosomal dominant inheritance	-	OMIM:615483
5155	PDGFB	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0001300	Parkinsonism	3/31	OMIM:615483
5155	PDGFB	HP:0001300	Parkinsonism	1/8	OMIM:213600
5155	PDGFB	HP:0000141	Amenorrhea	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:31112
5155	PDGFB	HP:0002716	Lymphadenopathy	HP:0040284	ORPHA:31112
5155	PDGFB	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0002015	Dysphagia	HP:0040283	ORPHA:1980
5155	PDGFB	HP:0100543	Cognitive impairment	-	OMIM:615483
5155	PDGFB	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0002067	Bradykinesia	HP:0040282	ORPHA:1980
5155	PDGFB	HP:0002067	Bradykinesia	-	OMIM:213600
5155	PDGFB	HP:0003394	Muscle spasm	HP:0040283	ORPHA:1980
5155	PDGFB	HP:0002063	Rigidity	HP:0040282	ORPHA:1980
5155	PDGFB	HP:0002063	Rigidity	-	OMIM:213600
5155	PDGFB	HP:0002076	Migraine	7/31	OMIM:615483
5155	PDGFB	HP:0002075	Dysdiadochokinesis	-	OMIM:213600
5155	PDGFB	HP:0002072	Chorea	2/31	OMIM:615483
5155	PDGFB	HP:0002072	Chorea	-	OMIM:213600
5155	PDGFB	HP:0003388	Easy fatigability	HP:0040283	ORPHA:1980
5155	PDGFB	HP:0011752	Neoplasm of the posterior pituitary	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0011750	Neoplasm of the anterior pituitary	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0011730	Abnormal central sensory function	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0008163	Decreased circulating cortisol level	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0002135	Basal ganglia calcification	31/31	OMIM:615483
5155	PDGFB	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:1980
5155	PDGFB	HP:0002135	Basal ganglia calcification	6/8	OMIM:213600
5155	PDGFB	HP:0003418	Back pain	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0002167	Abnormal speech pattern	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0002174	Postural tremor	2/31	OMIM:615483
5155	PDGFB	HP:0002172	Postural instability	-	OMIM:213600
5155	PDGFB	HP:0008240	Secondary growth hormone deficiency	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0008237	Hypothalamic hypothyroidism	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0010534	Transient global amnesia	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0008214	Decreased serum estradiol	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0008202	Reduced circulating prolactin concentration	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0003596	Middle age onset	3/16	OMIM:615483
5155	PDGFB	HP:0003581	Adult onset	8/8	OMIM:213600
5155	PDGFB	HP:0003581	Adult onset	-	OMIM:607174
5155	PDGFB	HP:0010628	Facial palsy	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0001067	Neurofibroma	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0002378	Hand tremor	1/31	OMIM:615483
5155	PDGFB	HP:0002344	Progressive neurologic deterioration	HP:0040282	ORPHA:1980
5155	PDGFB	HP:0003676	Progressive	-	OMIM:615483
5155	PDGFB	HP:0003676	Progressive	-	OMIM:213600
5155	PDGFB	HP:0002354	Memory impairment	4/31	OMIM:615483
5155	PDGFB	HP:0002354	Memory impairment	HP:0040283	ORPHA:1980
5155	PDGFB	HP:0002354	Memory impairment	-	OMIM:213600
5155	PDGFB	HP:0002354	Memory impairment	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0002321	Vertigo	4/31	OMIM:615483
5155	PDGFB	HP:0002321	Vertigo	HP:0040282	ORPHA:1980
5155	PDGFB	HP:0002317	Unsteady gait	HP:0040283	ORPHA:1980
5155	PDGFB	HP:0002315	Headache	HP:0040282	ORPHA:1980
5155	PDGFB	HP:0002315	Headache	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0100648	Neoplasm of the tongue	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0100660	Dyskinesia	5/31	OMIM:615483
5155	PDGFB	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1980
5155	PDGFB	HP:0100661	Trigeminal neuralgia	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0010828	Hemifacial spasm	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0001072	Thickened skin	HP:0040281	ORPHA:31112
5155	PDGFB	HP:0025041	Thalamic calcification	7/31	OMIM:615483
5155	PDGFB	HP:0200042	Skin ulcer	HP:0040282	ORPHA:31112
5155	PDGFB	HP:0001085	Papilledema	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0010783	Erythema	HP:0040281	ORPHA:31112
5155	PDGFB	HP:0007146	Bilateral basal ganglia lesions	HP:0040282	ORPHA:1980
5155	PDGFB	HP:0032180	Abnormal circulating metabolite concentration	-	ORPHA:1980
5155	PDGFB	HP:0002312	Clumsiness	HP:0040283	ORPHA:1980
5155	PDGFB	HP:0002305	Athetosis	1/31	OMIM:615483
5155	PDGFB	HP:0002305	Athetosis	-	OMIM:213600
5155	PDGFB	HP:0003621	Juvenile onset	6/16	OMIM:615483
5155	PDGFB	HP:0030521	Bitemporal hemianopia	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0030532	Visual acuity test abnormality	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0000618	Blindness	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0012691	Focal T2 hypointense thalamic lesion	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0004305	Involuntary movements	HP:0040283	ORPHA:1980
5155	PDGFB	HP:0031987	Diminished ability to concentrate	HP:0040283	ORPHA:1980
5155	PDGFB	HP:0000802	Impotence	HP:0040283	ORPHA:1980
5155	PDGFB	HP:0000802	Impotence	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0004363	Abnormal circulating calcium concentration	0/8	OMIM:213600
5155	PDGFB	HP:0031908	Micrographia	-	OMIM:213600
5155	PDGFB	HP:0100010	Spinal meningioma	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0100009	Intracranial meningioma	HP:0040281	ORPHA:2495
5155	PDGFB	HP:0000751	Personality changes	HP:0040282	ORPHA:1980
5155	PDGFB	HP:0100034	Motor tics	1/31	OMIM:615483
5155	PDGFB	HP:0000739	Anxiety	2/31	OMIM:615483
5155	PDGFB	HP:0000739	Anxiety	HP:0040282	ORPHA:1980
5155	PDGFB	HP:0000741	Apathy	1/31	OMIM:615483
5155	PDGFB	HP:0000716	Depression	4/31	OMIM:615483
5155	PDGFB	HP:0000716	Depression	-	OMIM:213600
5155	PDGFB	HP:0000712	Emotional lability	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0000726	Dementia	1/31	OMIM:615483
5155	PDGFB	HP:0000726	Dementia	HP:0040282	ORPHA:1980
5155	PDGFB	HP:0000709	Psychosis	3/31	OMIM:615483
5155	PDGFB	HP:0000709	Psychosis	HP:0040282	ORPHA:1980
5155	PDGFB	HP:0000709	Psychosis	-	OMIM:213600
5155	PDGFB	HP:0030591	Abnormal kinetic perimetry test	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0011463	Childhood onset	2/16	OMIM:615483
5155	PDGFB	HP:0011463	Childhood onset	2/8	OMIM:213600
5155	PDGFB	HP:0011462	Young adult onset	5/16	OMIM:615483
5155	PDGFB	HP:0011450	Unusual CNS infection	-	ORPHA:1980
5155	PDGFB	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0030766	Ear pain	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0004408	Abnormality of the sense of smell	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0000822	Hypertension	HP:0040283	ORPHA:1980
5155	PDGFB	HP:0030878	Abnormality on pulmonary function testing	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0033051	Impaired executive functioning	5/31	OMIM:615483
5155	PDGFB	HP:0045026	Abnormal mediastinum morphology	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0100244	Fibrosarcoma	HP:0040281	ORPHA:31112
5155	PDGFB	HP:0040171	Decreased serum testosterone concentration	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:31112
5155	PDGFB	HP:0007715	Weak extraocular muscles	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0012285	Abnormal hypothalamus physiology	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0000298	Mask-like facies	HP:0040282	ORPHA:1980
5155	PDGFB	HP:0000298	Mask-like facies	-	OMIM:213600
5155	PDGFB	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0002858	Meningioma	-	OMIM:607174
5155	PDGFB	HP:0001513	Obesity	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0006520	Progressive pulmonary function impairment	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0000360	Tinnitus	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0007924	Slow decrease in visual acuity	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0011133	Increased sensitivity to ionizing radiation	HP:0040281	ORPHA:2495
5155	PDGFB	HP:0012505	Enlarged pituitary gland	HP:0040283	ORPHA:2495
5155	PDGFB	HP:0000520	Proptosis	HP:0040284	ORPHA:2495
5155	PDGFB	HP:0030344	Decreased circulating luteinizing hormone level	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0030341	Decreased circulating follicle stimulating hormone concentration	HP:0040282	ORPHA:2495
5155	PDGFB	HP:0012531	Pain	HP:0040283	ORPHA:31112
5156	PDGFRA	HP:0003745	Sporadic	-	OMIM:607685
5156	PDGFRA	HP:0100833	Neoplasm of the small intestine	HP:0040283	ORPHA:44890
5156	PDGFRA	HP:0002576	Intussusception	-	OMIM:175510
5156	PDGFRA	HP:0007400	Irregular hyperpigmentation	HP:0040283	ORPHA:44890
5156	PDGFRA	HP:0007378	Neoplasm of the gastrointestinal tract	HP:0040283	ORPHA:44890
5156	PDGFRA	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:44890
5156	PDGFRA	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199306
5156	PDGFRA	HP:0000006	Autosomal dominant inheritance	-	OMIM:175510
5156	PDGFRA	HP:0000175	Cleft palate	HP:0040282	ORPHA:199306
5156	PDGFRA	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:199306
5156	PDGFRA	HP:0006292	Abnormality of dental eruption	HP:0040281	ORPHA:199306
5156	PDGFRA	HP:0001442	Typified by somatic mosaicism	-	OMIM:607685
5156	PDGFRA	HP:0002019	Constipation	HP:0040282	ORPHA:44890
5156	PDGFRA	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:44890
5156	PDGFRA	HP:0002033	Poor suck	HP:0040282	ORPHA:199306
5156	PDGFRA	HP:0003326	Myalgia	-	OMIM:607685
5156	PDGFRA	HP:0002015	Dysphagia	HP:0040282	ORPHA:44890
5156	PDGFRA	HP:0002113	Pulmonary infiltrates	-	OMIM:607685
5156	PDGFRA	HP:0002240	Hepatomegaly	-	OMIM:607685
5156	PDGFRA	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:44890
5156	PDGFRA	HP:0200153	Agenesis of lateral incisor	HP:0040283	ORPHA:199306
5156	PDGFRA	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:199306
5156	PDGFRA	HP:0100723	Gastrointestinal stroma tumor	-	OMIM:175510
5156	PDGFRA	HP:0100723	Gastrointestinal stroma tumor	HP:0040281	ORPHA:44890
5156	PDGFRA	HP:0100751	Esophageal neoplasm	HP:0040283	ORPHA:44890
5156	PDGFRA	HP:0100743	Neoplasm of the rectum	HP:0040283	ORPHA:44890
5156	PDGFRA	HP:0200008	Intestinal polyposis	-	OMIM:175510
5156	PDGFRA	HP:0004936	Venous thrombosis	-	OMIM:607685
5156	PDGFRA	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:199306
5156	PDGFRA	HP:0005547	Myeloproliferative disorder	-	OMIM:607685
5156	PDGFRA	HP:0001903	Anemia	HP:0040283	ORPHA:44890
5156	PDGFRA	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:199306
5156	PDGFRA	HP:0004395	Malnutrition	HP:0040283	ORPHA:199306
5156	PDGFRA	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:199306
5156	PDGFRA	HP:0000707	Abnormality of the nervous system	-	OMIM:607685
5156	PDGFRA	HP:0100337	Bilateral cleft palate	HP:0040283	ORPHA:199306
5156	PDGFRA	HP:0100334	Unilateral cleft palate	HP:0040282	ORPHA:199306
5156	PDGFRA	HP:0010294	Palate fistula	HP:0040283	ORPHA:199306
5156	PDGFRA	HP:0100273	Neoplasm of the colon	HP:0040283	ORPHA:44890
5156	PDGFRA	HP:0000989	Pruritus	-	OMIM:607685
5156	PDGFRA	HP:0000988	Skin rash	HP:0040283	ORPHA:44890
5156	PDGFRA	HP:0100242	Sarcoma	HP:0040281	ORPHA:44890
5156	PDGFRA	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:199306
5156	PDGFRA	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:199306
5156	PDGFRA	HP:0012378	Fatigue	HP:0040282	ORPHA:44890
5156	PDGFRA	HP:0011044	Abnormal number of permanent teeth	HP:0040283	ORPHA:199306
5156	PDGFRA	HP:0005214	Intestinal obstruction	HP:0040282	ORPHA:44890
5156	PDGFRA	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:199306
5156	PDGFRA	HP:0000327	Hypoplasia of the maxilla	HP:0040284	ORPHA:199306
5156	PDGFRA	HP:0006685	Endocardial fibrosis	-	OMIM:607685
5156	PDGFRA	HP:0001723	Restrictive cardiomyopathy	-	OMIM:607685
5156	PDGFRA	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:199306
5156	PDGFRA	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:199306
5156	PDGFRA	HP:0001744	Splenomegaly	-	OMIM:607685
5156	PDGFRA	HP:0006753	Neoplasm of the stomach	HP:0040281	ORPHA:44890
5156	PDGFRA	HP:0001880	Increased total eosinophil count	-	OMIM:607685
5157	PDGFRL	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
5157	PDGFRL	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
5157	PDGFRL	HP:0001442	Typified by somatic mosaicism	-	OMIM:114550
5157	PDGFRL	HP:0001402	Hepatocellular carcinoma	-	OMIM:114550
5157	PDGFRL	HP:0001413	Micronodular cirrhosis	-	OMIM:114550
5157	PDGFRL	HP:0005584	Renal cell carcinoma	-	OMIM:114500
5157	PDGFRL	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
5157	PDGFRL	HP:0006572	Subacute progressive viral hepatitis	-	OMIM:114550
5157	PDGFRL	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
5157	PDGFRL	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
5157	PDGFRL	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
5158	PDE6B	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5158	PDE6B	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
5158	PDE6B	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5158	PDE6B	HP:0000007	Autosomal recessive inheritance	-	OMIM:613801
5158	PDE6B	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5158	PDE6B	HP:0000006	Autosomal dominant inheritance	-	OMIM:163500
5158	PDE6B	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5158	PDE6B	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
5158	PDE6B	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5158	PDE6B	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:215
5158	PDE6B	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
5158	PDE6B	HP:0007663	Reduced visual acuity	0/1	OMIM:163500
5158	PDE6B	HP:0007642	Congenital stationary night blindness	1/1	OMIM:163500
5158	PDE6B	HP:0008323	Abnormal light- and dark-adapted electroretinogram	6/6	OMIM:613801
5158	PDE6B	HP:0001098	Abnormal fundus morphology	0/1	OMIM:163500
5158	PDE6B	HP:0003621	Juvenile onset	8/19	OMIM:180100
5158	PDE6B	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
5158	PDE6B	HP:0000639	Nystagmus	HP:0040282	ORPHA:215
5158	PDE6B	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
5158	PDE6B	HP:0000618	Blindness	HP:0040281	ORPHA:791
5158	PDE6B	HP:0000613	Photophobia	HP:0040281	ORPHA:791
5158	PDE6B	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
5158	PDE6B	HP:0030469	Abnormal dark-adapted electroretinogram	HP:0040281	ORPHA:215
5158	PDE6B	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
5158	PDE6B	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	HP:0040283	ORPHA:215
5158	PDE6B	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
5158	PDE6B	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
5158	PDE6B	HP:0000662	Nyctalopia	1/1	OMIM:613801
5158	PDE6B	HP:0000662	Nyctalopia	26/28	OMIM:180100
5158	PDE6B	HP:0000662	Nyctalopia	HP:0040281	ORPHA:215
5158	PDE6B	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
5158	PDE6B	HP:0030639	Congenital stationary night blindness with abnormal fundus	HP:0040282	ORPHA:215
5158	PDE6B	HP:0030638	Congenital stationary night blindness with normal fundus	HP:0040282	ORPHA:215
5158	PDE6B	HP:0011463	Childhood onset	3/19	OMIM:180100
5158	PDE6B	HP:0011463	Childhood onset	7/7	OMIM:613801
5158	PDE6B	HP:0011462	Young adult onset	8/19	OMIM:180100
5158	PDE6B	HP:0030786	Photopsia	HP:0040283	ORPHA:791
5158	PDE6B	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
5158	PDE6B	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
5158	PDE6B	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
5158	PDE6B	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
5158	PDE6B	HP:0007703	Abnormality of retinal pigmentation	HP:0040284	ORPHA:215
5158	PDE6B	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
5158	PDE6B	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
5158	PDE6B	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5158	PDE6B	HP:0007737	Bone spicule pigmentation of the retina	7/7	OMIM:613801
5158	PDE6B	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
5158	PDE6B	HP:0007843	Attenuation of retinal blood vessels	7/7	OMIM:613801
5158	PDE6B	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5158	PDE6B	HP:0031624	Moderate myopia	1/1	OMIM:163500
5158	PDE6B	HP:0030329	Retinal thinning	HP:0040284	ORPHA:215
5158	PDE6B	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
5158	PDE6B	HP:0007984	Electronegative electroretinogram	HP:0040283	ORPHA:215
5158	PDE6B	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
5158	PDE6B	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
5158	PDE6B	HP:0000486	Strabismus	HP:0040282	ORPHA:215
5158	PDE6B	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
5158	PDE6B	HP:0031705	Compensatory head posture	HP:0040283	ORPHA:215
5158	PDE6B	HP:0000518	Cataract	1/1	OMIM:613801
5158	PDE6B	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5158	PDE6B	HP:0000510	Rod-cone dystrophy	-	OMIM:613801
5158	PDE6B	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
5158	PDE6B	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
5158	PDE6B	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
5158	PDE6B	HP:0000575	Scotoma	5/18	OMIM:180100
5158	PDE6B	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
5158	PDE6B	HP:0000540	Hypermetropia	HP:0040283	ORPHA:215
5158	PDE6B	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
5158	PDE6B	HP:0000551	Color vision defect	HP:0040284	ORPHA:215
5158	PDE6B	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
5158	PDE6B	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
5158	PDE6B	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5158	PDE6B	HP:0000545	Myopia	-	OMIM:180100
5158	PDE6B	HP:0000545	Myopia	HP:0040281	ORPHA:215
5159	PDGFRB	HP:0001156	Brachydactyly	1/4	OMIM:601812
5159	PDGFRB	HP:0002461	Cerebellar dentate nucleus calcification	-	OMIM:213600
5159	PDGFRB	HP:0001114	Xanthelasma	1/2	OMIM:616592
5159	PDGFRB	HP:0010941	Aplasia of the nasal bone	1/4	OMIM:601812
5159	PDGFRB	HP:0007302	Bipolar affective disorder	1/13	OMIM:615007
5159	PDGFRB	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:1980
5159	PDGFRB	HP:0007256	Abnormal pyramidal sign	HP:0040283	OMIM:213600
5159	PDGFRB	HP:0009882	Short distal phalanx of finger	1/4	OMIM:601812
5159	PDGFRB	HP:0002406	Limb dysmetria	-	OMIM:213600
5159	PDGFRB	HP:0007291	Posterior fossa cyst	2/4	OMIM:601812
5159	PDGFRB	HP:0001268	Mental deterioration	-	OMIM:213600
5159	PDGFRB	HP:0001288	Gait disturbance	-	OMIM:213600
5159	PDGFRB	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:2591
5159	PDGFRB	HP:0001250	Seizure	HP:0040282	ORPHA:1980
5159	PDGFRB	HP:0001250	Seizure	2/8	OMIM:213600
5159	PDGFRB	HP:0001249	Intellectual disability	1/2	OMIM:616592
5159	PDGFRB	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:1980
5159	PDGFRB	HP:0001260	Dysarthria	1/8	OMIM:213600
5159	PDGFRB	HP:0001263	Global developmental delay	2/8	OMIM:213600
5159	PDGFRB	HP:0001263	Global developmental delay	1/4	OMIM:601812
5159	PDGFRB	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:2591
5159	PDGFRB	HP:0008765	Auditory hallucination	1/2	OMIM:616592
5159	PDGFRB	HP:0007400	Irregular hyperpigmentation	HP:0040283	ORPHA:2591
5159	PDGFRB	HP:0007352	Cerebellar calcifications	HP:0040283	ORPHA:1980
5159	PDGFRB	HP:0002504	Calcification of the small brain vessels	-	OMIM:213600
5159	PDGFRB	HP:0000098	Tall stature	1/2	OMIM:616592
5159	PDGFRB	HP:0012062	Bone cyst	HP:0040281	ORPHA:2591
5159	PDGFRB	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:2591
5159	PDGFRB	HP:0012040	Corneal stromal edema	1/4	OMIM:601812
5159	PDGFRB	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:2591
5159	PDGFRB	HP:0000020	Urinary incontinence	-	OMIM:213600
5159	PDGFRB	HP:0001350	Slurred speech	HP:0040283	ORPHA:1980
5159	PDGFRB	HP:0001347	Hyperreflexia	-	OMIM:213600
5159	PDGFRB	HP:0007495	Prematurely aged appearance	4/4	OMIM:601812
5159	PDGFRB	HP:0001332	Dystonia	HP:0040283	ORPHA:1980
5159	PDGFRB	HP:0001332	Dystonia	-	OMIM:213600
5159	PDGFRB	HP:0000012	Urinary urgency	HP:0040283	ORPHA:1980
5159	PDGFRB	HP:0001337	Tremor	HP:0040282	ORPHA:1980
5159	PDGFRB	HP:0001337	Tremor	-	OMIM:213600
5159	PDGFRB	HP:0000006	Autosomal dominant inheritance	-	OMIM:616592
5159	PDGFRB	HP:0000006	Autosomal dominant inheritance	-	OMIM:615007
5159	PDGFRB	HP:0000006	Autosomal dominant inheritance	-	OMIM:228550
5159	PDGFRB	HP:0000006	Autosomal dominant inheritance	-	OMIM:213600
5159	PDGFRB	HP:0000006	Autosomal dominant inheritance	-	OMIM:601812
5159	PDGFRB	HP:0002650	Scoliosis	2/2	OMIM:616592
5159	PDGFRB	HP:0002650	Scoliosis	1/4	OMIM:601812
5159	PDGFRB	HP:0002645	Wormian bones	1/4	OMIM:601812
5159	PDGFRB	HP:0001300	Parkinsonism	1/13	OMIM:615007
5159	PDGFRB	HP:0001300	Parkinsonism	1/8	OMIM:213600
5159	PDGFRB	HP:0000169	Gingival fibromatosis	HP:0040282	ORPHA:2591
5159	PDGFRB	HP:0002797	Osteolysis	HP:0040283	ORPHA:2591
5159	PDGFRB	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:2591
5159	PDGFRB	HP:0002757	Recurrent fractures	1/4	OMIM:601812
5159	PDGFRB	HP:0002750	Delayed skeletal maturation	2/4	OMIM:601812
5159	PDGFRB	HP:0002015	Dysphagia	HP:0040283	ORPHA:1980
5159	PDGFRB	HP:0002007	Frontal bossing	1/4	OMIM:601812
5159	PDGFRB	HP:0100526	Neoplasm of the lung	HP:0040282	ORPHA:2591
5159	PDGFRB	HP:0011800	Midface retrusion	-	OMIM:601812
5159	PDGFRB	HP:0002067	Bradykinesia	HP:0040282	ORPHA:1980
5159	PDGFRB	HP:0002067	Bradykinesia	-	OMIM:213600
5159	PDGFRB	HP:0003394	Muscle spasm	HP:0040283	ORPHA:1980
5159	PDGFRB	HP:0002063	Rigidity	HP:0040282	ORPHA:1980
5159	PDGFRB	HP:0002063	Rigidity	-	OMIM:213600
5159	PDGFRB	HP:0002076	Migraine	3/13	OMIM:615007
5159	PDGFRB	HP:0002075	Dysdiadochokinesis	-	OMIM:213600
5159	PDGFRB	HP:0002072	Chorea	-	OMIM:213600
5159	PDGFRB	HP:0003388	Easy fatigability	HP:0040283	ORPHA:1980
5159	PDGFRB	HP:0100578	Lipoatrophy	-	OMIM:601812
5159	PDGFRB	HP:0002135	Basal ganglia calcification	10/12	OMIM:615007
5159	PDGFRB	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:1980
5159	PDGFRB	HP:0002135	Basal ganglia calcification	6/8	OMIM:213600
5159	PDGFRB	HP:0002172	Postural instability	-	OMIM:213600
5159	PDGFRB	HP:0010562	Keloids	1/4	OMIM:601812
5159	PDGFRB	HP:0010539	Thin calvarium	-	OMIM:601812
5159	PDGFRB	HP:0010500	Hyperextensibility of the knee	1/4	OMIM:601812
5159	PDGFRB	HP:0011829	Narrow philtrum	1/4	OMIM:601812
5159	PDGFRB	HP:0003596	Middle age onset	1/6	OMIM:615007
5159	PDGFRB	HP:0003593	Infantile onset	-	OMIM:228550
5159	PDGFRB	HP:0003577	Congenital onset	1/4	OMIM:601812
5159	PDGFRB	HP:0002242	Abnormal intestine morphology	HP:0040282	ORPHA:2591
5159	PDGFRB	HP:0100702	Arachnoid cyst	1/4	OMIM:601812
5159	PDGFRB	HP:0003584	Late onset	1/6	OMIM:615007
5159	PDGFRB	HP:0003581	Adult onset	8/8	OMIM:213600
5159	PDGFRB	HP:0007018	Attention deficit hyperactivity disorder	1/13	OMIM:615007
5159	PDGFRB	HP:0010614	Fibroma	-	OMIM:228550
5159	PDGFRB	HP:0010614	Fibroma	HP:0040281	ORPHA:2591
5159	PDGFRB	HP:0001030	Fragile skin	2/2	OMIM:616592
5159	PDGFRB	HP:0002344	Progressive neurologic deterioration	HP:0040282	ORPHA:1980
5159	PDGFRB	HP:0002344	Progressive neurologic deterioration	-	OMIM:616592
5159	PDGFRB	HP:0003676	Progressive	-	OMIM:213600
5159	PDGFRB	HP:0002354	Memory impairment	HP:0040283	ORPHA:1980
5159	PDGFRB	HP:0002354	Memory impairment	-	OMIM:213600
5159	PDGFRB	HP:0001015	Prominent superficial veins	1/4	OMIM:601812
5159	PDGFRB	HP:0002321	Vertigo	HP:0040282	ORPHA:1980
5159	PDGFRB	HP:0002317	Unsteady gait	HP:0040283	ORPHA:1980
5159	PDGFRB	HP:0002315	Headache	HP:0040282	ORPHA:1980
5159	PDGFRB	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1980
5159	PDGFRB	HP:0200036	Skin nodule	1/4	OMIM:601812
5159	PDGFRB	HP:0009839	Osteolytic defects of the distal phalanges of the hand	4/4	OMIM:601812
5159	PDGFRB	HP:0001072	Thickened skin	1/4	OMIM:601812
5159	PDGFRB	HP:0200042	Skin ulcer	HP:0040283	ORPHA:2591
5159	PDGFRB	HP:0007146	Bilateral basal ganglia lesions	HP:0040282	ORPHA:1980
5159	PDGFRB	HP:0032180	Abnormal circulating metabolite concentration	-	ORPHA:1980
5159	PDGFRB	HP:0002312	Clumsiness	HP:0040283	ORPHA:1980
5159	PDGFRB	HP:0002305	Athetosis	-	OMIM:213600
5159	PDGFRB	HP:0003621	Juvenile onset	1/6	OMIM:615007
5159	PDGFRB	HP:0003621	Juvenile onset	2/2	OMIM:616592
5159	PDGFRB	HP:0020135	Myofibromatosis	-	OMIM:228550
5159	PDGFRB	HP:0020135	Myofibromatosis	1/2	OMIM:616592
5159	PDGFRB	HP:0004279	Short palm	2/4	OMIM:601812
5159	PDGFRB	HP:0000601	Hypotelorism	2/4	OMIM:601812
5159	PDGFRB	HP:0000684	Delayed eruption of teeth	1/4	OMIM:601812
5159	PDGFRB	HP:0000666	Horizontal nystagmus	1/13	OMIM:615007
5159	PDGFRB	HP:0004334	Dermal atrophy	1/4	OMIM:601812
5159	PDGFRB	HP:0004305	Involuntary movements	HP:0040283	ORPHA:1980
5159	PDGFRB	HP:0031987	Diminished ability to concentrate	HP:0040283	ORPHA:1980
5159	PDGFRB	HP:0006951	Retrocerebellar cyst	1/4	OMIM:601812
5159	PDGFRB	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:2591
5159	PDGFRB	HP:0000802	Impotence	HP:0040283	ORPHA:1980
5159	PDGFRB	HP:0004363	Abnormal circulating calcium concentration	0/8	OMIM:213600
5159	PDGFRB	HP:0031908	Micrographia	-	OMIM:213600
5159	PDGFRB	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:2591
5159	PDGFRB	HP:0003011	Abnormality of the musculature	HP:0040281	ORPHA:2591
5159	PDGFRB	HP:0000751	Personality changes	HP:0040282	ORPHA:1980
5159	PDGFRB	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:2591
5159	PDGFRB	HP:0000739	Anxiety	HP:0040282	ORPHA:1980
5159	PDGFRB	HP:0000739	Anxiety	1/2	OMIM:616592
5159	PDGFRB	HP:0000716	Depression	-	OMIM:615007
5159	PDGFRB	HP:0000716	Depression	-	OMIM:213600
5159	PDGFRB	HP:0000716	Depression	1/2	OMIM:616592
5159	PDGFRB	HP:0000726	Dementia	1/13	OMIM:615007
5159	PDGFRB	HP:0000726	Dementia	HP:0040282	ORPHA:1980
5159	PDGFRB	HP:0000709	Psychosis	HP:0040282	ORPHA:1980
5159	PDGFRB	HP:0000709	Psychosis	-	OMIM:213600
5159	PDGFRB	HP:0012785	Flexion contracture of finger	1/4	OMIM:601812
5159	PDGFRB	HP:0011463	Childhood onset	2/8	OMIM:213600
5159	PDGFRB	HP:0011463	Childhood onset	3/4	OMIM:601812
5159	PDGFRB	HP:0011462	Young adult onset	3/6	OMIM:615007
5159	PDGFRB	HP:0011450	Unusual CNS infection	-	ORPHA:1980
5159	PDGFRB	HP:0003100	Slender long bone	1/4	OMIM:601812
5159	PDGFRB	HP:0003196	Short nose	1/4	OMIM:601812
5159	PDGFRB	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:2591
5159	PDGFRB	HP:0000891	Cervical ribs	1/4	OMIM:601812
5159	PDGFRB	HP:0000883	Thin ribs	1/4	OMIM:601812
5159	PDGFRB	HP:0000822	Hypertension	HP:0040283	ORPHA:1980
5159	PDGFRB	HP:0034392	Joint contracture	1/4	OMIM:601812
5159	PDGFRB	HP:0000972	Palmoplantar hyperkeratosis	1/4	OMIM:601812
5159	PDGFRB	HP:0000974	Hyperextensible skin	2/2	OMIM:616592
5159	PDGFRB	HP:0000963	Thin skin	1/2	OMIM:616592
5159	PDGFRB	HP:0000963	Thin skin	1/4	OMIM:601812
5159	PDGFRB	HP:0000962	Hyperkeratosis	1/4	OMIM:601812
5159	PDGFRB	HP:0000939	Osteoporosis	1/4	OMIM:601812
5159	PDGFRB	HP:0000934	Chondrocalcinosis	HP:0040282	ORPHA:2591
5159	PDGFRB	HP:0100242	Sarcoma	HP:0040281	ORPHA:2591
5159	PDGFRB	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2591
5159	PDGFRB	HP:0008070	Sparse hair	1/4	OMIM:601812
5159	PDGFRB	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:2591
5159	PDGFRB	HP:0000278	Retrognathia	1/4	OMIM:601812
5159	PDGFRB	HP:0000298	Mask-like facies	HP:0040282	ORPHA:1980
5159	PDGFRB	HP:0000298	Mask-like facies	-	OMIM:213600
5159	PDGFRB	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:2591
5159	PDGFRB	HP:0000256	Macrocephaly	1/4	OMIM:601812
5159	PDGFRB	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:2591
5159	PDGFRB	HP:0000270	Delayed cranial suture closure	-	OMIM:601812
5159	PDGFRB	HP:0005107	Abnormal sacrum morphology	HP:0040283	ORPHA:2591
5159	PDGFRB	HP:0001548	Overgrowth	2/2	OMIM:616592
5159	PDGFRB	HP:0000219	Thin upper lip vermilion	2/2	OMIM:616592
5159	PDGFRB	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:2591
5159	PDGFRB	HP:0000233	Thin vermilion border	-	OMIM:601812
5159	PDGFRB	HP:0001508	Failure to thrive	1/4	OMIM:601812
5159	PDGFRB	HP:0005214	Intestinal obstruction	HP:0040283	ORPHA:2591
5159	PDGFRB	HP:0002944	Thoracolumbar scoliosis	-	OMIM:616592
5159	PDGFRB	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	-	OMIM:601812
5159	PDGFRB	HP:0000336	Prominent supraorbital ridges	-	OMIM:616592
5159	PDGFRB	HP:0000347	Micrognathia	1/4	OMIM:601812
5159	PDGFRB	HP:0002982	Tibial bowing	1/4	OMIM:601812
5159	PDGFRB	HP:0000316	Hypertelorism	1/4	OMIM:601812
5159	PDGFRB	HP:0000327	Hypoplasia of the maxilla	-	OMIM:601812
5159	PDGFRB	HP:0000307	Pointed chin	1/2	OMIM:616592
5159	PDGFRB	HP:0007957	Corneal opacity	1/4	OMIM:601812
5159	PDGFRB	HP:0007922	Hypermyelinated retinal nerve fibers	1/4	OMIM:601812
5159	PDGFRB	HP:0000407	Sensorineural hearing impairment	1/4	OMIM:601812
5159	PDGFRB	HP:0005280	Depressed nasal bridge	1/2	OMIM:616592
5159	PDGFRB	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:2591
5159	PDGFRB	HP:0000494	Downslanted palpebral fissures	2/2	OMIM:616592
5159	PDGFRB	HP:0000460	Narrow nose	-	OMIM:601812
5159	PDGFRB	HP:0001773	Short foot	1/4	OMIM:601812
5159	PDGFRB	HP:0000444	Convex nasal ridge	1/4	OMIM:601812
5159	PDGFRB	HP:0000431	Wide nasal bridge	2/2	OMIM:616592
5159	PDGFRB	HP:0000426	Prominent nasal bridge	-	OMIM:601812
5159	PDGFRB	HP:0000520	Proptosis	2/2	OMIM:616592
5159	PDGFRB	HP:0000520	Proptosis	1/4	OMIM:601812
5159	PDGFRB	HP:0000508	Ptosis	1/2	OMIM:616592
5159	PDGFRB	HP:0001833	Long foot	-	OMIM:616592
5159	PDGFRB	HP:0000586	Shallow orbits	1/4	OMIM:601812
5159	PDGFRB	HP:0011220	Prominent forehead	2/2	OMIM:616592
5159	PDGFRB	HP:0000568	Microphthalmia	1/4	OMIM:601812
5159	PDGFRB	HP:0000540	Hypermetropia	1/4	OMIM:601812
5160	PDHA1	HP:0002490	Increased CSF lactate	1/1	OMIM:312170
5160	PDHA1	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:79243
5160	PDHA1	HP:0001290	Generalized hypotonia	-	OMIM:312170
5160	PDHA1	HP:0001274	Agenesis of corpus callosum	-	OMIM:312170
5160	PDHA1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0001254	Lethargy	-	OMIM:312170
5160	PDHA1	HP:0001250	Seizure	-	OMIM:312170
5160	PDHA1	HP:0001250	Seizure	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0001252	Hypotonia	11/12	OMIM:312170
5160	PDHA1	HP:0001252	Hypotonia	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0001251	Ataxia	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0001249	Intellectual disability	1/1	OMIM:312170
5160	PDHA1	HP:0001266	Choreoathetosis	-	OMIM:312170
5160	PDHA1	HP:0001263	Global developmental delay	-	OMIM:312170
5160	PDHA1	HP:0002540	Inability to walk	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0500231	Abnormal CSF pyruvate family amino acid concentration	HP:0040281	ORPHA:79243
5160	PDHA1	HP:0025361	Abnormal medullary pyramid morphology	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0001332	Dystonia	-	OMIM:312170
5160	PDHA1	HP:0001332	Dystonia	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0001338	Partial agenesis of the corpus callosum	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0001337	Tremor	1/2	OMIM:312170
5160	PDHA1	HP:0001336	Myoclonus	1/2	OMIM:312170
5160	PDHA1	HP:0002643	Neonatal respiratory distress	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0012128	Basal ganglia necrosis	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0001423	X-linked dominant inheritance	-	OMIM:312170
5160	PDHA1	HP:0002719	Recurrent infections	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0003348	Hyperalaninemia	-	OMIM:312170
5160	PDHA1	HP:0002007	Frontal bossing	-	OMIM:312170
5160	PDHA1	HP:0030917	Low APGAR score	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0002059	Cerebral atrophy	-	OMIM:312170
5160	PDHA1	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:312170
5160	PDHA1	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:79243
5160	PDHA1	HP:0002119	Ventriculomegaly	-	OMIM:312170
5160	PDHA1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0002131	Episodic ataxia	-	OMIM:312170
5160	PDHA1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0002100	Recurrent aspiration pneumonia	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0002187	Intellectual disability, profound	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0002171	Gliosis	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0010576	Intracranial cystic lesion	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0003593	Infantile onset	2/2	OMIM:312170
5160	PDHA1	HP:0003542	Increased circulating pyruvate concentration	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0003542	Increased circulating pyruvate concentration	1/1	OMIM:312170
5160	PDHA1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0002350	Cerebellar cyst	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0002329	Drowsiness	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0009826	Limb undergrowth	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0004925	Chronic lactic acidosis	-	OMIM:312170
5160	PDHA1	HP:0004902	Congenital lactic acidosis	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0004900	Severe lactic acidosis	-	OMIM:312170
5160	PDHA1	HP:0000618	Blindness	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0001942	Metabolic acidosis	2/2	OMIM:312170
5160	PDHA1	HP:0012698	Cerebellar gliosis	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0001999	Abnormal facial shape	-	OMIM:312170
5160	PDHA1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0006956	Lateral ventricle dilatation	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0006999	Basal ganglia gliosis	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0003128	Lactic acidosis	2/2	OMIM:312170
5160	PDHA1	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0000252	Microcephaly	-	OMIM:312170
5160	PDHA1	HP:0000252	Microcephaly	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0002878	Respiratory failure	2/2	OMIM:312170
5160	PDHA1	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	-	OMIM:312170
5160	PDHA1	HP:0001518	Small for gestational age	-	OMIM:312170
5160	PDHA1	HP:0001518	Small for gestational age	HP:0040281	ORPHA:79243
5160	PDHA1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1/1	OMIM:312170
5160	PDHA1	HP:0000343	Long philtrum	-	OMIM:312170
5160	PDHA1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0011196	EEG with focal sharp waves	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0011193	EEG with focal spikes	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0011199	EEG with generalized sharp slow waves	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0012469	Infantile spasms	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0000496	Abnormality of eye movement	-	OMIM:312170
5160	PDHA1	HP:0000463	Anteverted nares	-	OMIM:312170
5160	PDHA1	HP:0000454	Flared nostrils	-	OMIM:312170
5160	PDHA1	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:79243
5160	PDHA1	HP:0000431	Wide nasal bridge	-	OMIM:312170
5160	PDHA1	HP:0001761	Pes cavus	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0006799	Basal ganglia cysts	HP:0040283	ORPHA:79243
5160	PDHA1	HP:0006799	Basal ganglia cysts	-	OMIM:312170
5160	PDHA1	HP:0000508	Ptosis	-	OMIM:312170
5160	PDHA1	HP:0001883	Talipes	HP:0040283	ORPHA:79243
5161	PDHA2	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
5161	PDHA2	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
5161	PDHA2	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
5161	PDHA2	HP:0000027	Azoospermia	2/3	OMIM:619828
5161	PDHA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619828
5161	PDHA2	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
5161	PDHA2	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
5161	PDHA2	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
5161	PDHA2	HP:0011462	Young adult onset	3/3	OMIM:619828
5161	PDHA2	HP:0000798	Oligozoospermia	1/3	OMIM:619828
5161	PDHA2	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
5161	PDHA2	HP:0003251	Male infertility	3/3	OMIM:619828
5161	PDHA2	HP:0012207	Reduced sperm motility	1/3	OMIM:619828
5162	PDHB	HP:0001290	Generalized hypotonia	2/2	OMIM:614111
5162	PDHB	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:255138
5162	PDHB	HP:0001274	Agenesis of corpus callosum	1/2	OMIM:614111
5162	PDHB	HP:0001250	Seizure	HP:0040283	ORPHA:255138
5162	PDHB	HP:0001252	Hypotonia	HP:0040282	ORPHA:255138
5162	PDHB	HP:0001251	Ataxia	HP:0040283	ORPHA:255138
5162	PDHB	HP:0001265	Hyporeflexia	1/2	OMIM:614111
5162	PDHB	HP:0001263	Global developmental delay	-	OMIM:614111
5162	PDHB	HP:0002683	Abnormal calvaria morphology	HP:0040282	ORPHA:255138
5162	PDHB	HP:0000007	Autosomal recessive inheritance	-	OMIM:614111
5162	PDHB	HP:0001302	Pachygyria	HP:0040283	ORPHA:255138
5162	PDHB	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:255138
5162	PDHB	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:255138
5162	PDHB	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:255138
5162	PDHB	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:255138
5162	PDHB	HP:0007016	Corticospinal tract hypoplasia	HP:0040283	ORPHA:255138
5162	PDHB	HP:0002365	Hypoplasia of the brainstem	HP:0040283	ORPHA:255138
5162	PDHB	HP:0200012	Short corpus callosum	HP:0040283	ORPHA:255138
5162	PDHB	HP:0007165	Periventricular heterotopia	HP:0040283	ORPHA:255138
5162	PDHB	HP:0007109	Periventricular cysts	HP:0040283	ORPHA:255138
5162	PDHB	HP:0001987	Hyperammonemia	-	OMIM:614111
5162	PDHB	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:255138
5162	PDHB	HP:0004325	Decreased body weight	HP:0040282	ORPHA:255138
5162	PDHB	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:255138
5162	PDHB	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:255138
5162	PDHB	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:255138
5162	PDHB	HP:0003128	Lactic acidosis	2/2	OMIM:614111
5162	PDHB	HP:0007772	Impaired smooth pursuit	HP:0040283	ORPHA:255138
5162	PDHB	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:255138
5162	PDHB	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	HP:0040282	ORPHA:255138
5165	PDK3	HP:0007328	Impaired pain sensation	0/8	OMIM:300905
5165	PDK3	HP:0001270	Motor delay	HP:0040283	ORPHA:352675
5165	PDK3	HP:0001288	Gait disturbance	HP:0040281	ORPHA:352675
5165	PDK3	HP:0007340	Lower limb muscle weakness	HP:0040281	ORPHA:352675
5165	PDK3	HP:0008954	Intrinsic hand muscle atrophy	5/8	OMIM:300905
5165	PDK3	HP:0008944	Distal lower limb amyotrophy	4/8	OMIM:300905
5165	PDK3	HP:0008944	Distal lower limb amyotrophy	HP:0040281	ORPHA:352675
5165	PDK3	HP:0001423	X-linked dominant inheritance	-	OMIM:300905
5165	PDK3	HP:0003393	Thenar muscle atrophy	HP:0040282	ORPHA:352675
5165	PDK3	HP:0003376	Steppage gait	5/5	OMIM:300905
5165	PDK3	HP:0003376	Steppage gait	HP:0040282	ORPHA:352675
5165	PDK3	HP:0003482	EMG: axonal abnormality	HP:0040281	ORPHA:352675
5165	PDK3	HP:0003438	Absent Achilles reflex	3/8	OMIM:300905
5165	PDK3	HP:0003438	Absent Achilles reflex	HP:0040281	ORPHA:352675
5165	PDK3	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:352675
5165	PDK3	HP:0003596	Middle age onset	2/4	OMIM:300905
5165	PDK3	HP:0002378	Hand tremor	6/8	OMIM:300905
5165	PDK3	HP:0002378	Hand tremor	HP:0040281	ORPHA:352675
5165	PDK3	HP:0003677	Slowly progressive	-	OMIM:300905
5165	PDK3	HP:0009830	Peripheral neuropathy	-	OMIM:300905
5165	PDK3	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:352675
5165	PDK3	HP:0003621	Juvenile onset	2/4	OMIM:300905
5165	PDK3	HP:0009072	Decreased Achilles reflex	1/8	OMIM:300905
5165	PDK3	HP:0006886	Impaired distal vibration sensation	2/8	OMIM:300905
5165	PDK3	HP:0000762	Decreased nerve conduction velocity	HP:0040281	ORPHA:352675
5165	PDK3	HP:0011463	Childhood onset	2/5	OMIM:300905
5165	PDK3	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:352675
5165	PDK3	HP:0002936	Distal sensory impairment	HP:0040281	ORPHA:352675
5165	PDK3	HP:0000407	Sensorineural hearing impairment	1/5	OMIM:300905
5165	PDK3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:352675
5165	PDK3	HP:0030237	Hand muscle weakness	5/5	OMIM:300905
5165	PDK3	HP:0001761	Pes cavus	2/8	OMIM:300905
5165	PDK3	HP:0001761	Pes cavus	HP:0040281	ORPHA:352675
5167	ENPP1	HP:0025116	Fetal distress	HP:0040282	ORPHA:51608
5167	ENPP1	HP:0025116	Fetal distress	1/1	OMIM:208000
5167	ENPP1	HP:0025114	Hypergranulosis	-	OMIM:615522
5167	ENPP1	HP:0025169	Left ventricular systolic dysfunction	HP:0040282	ORPHA:51608
5167	ENPP1	HP:0001102	Angioid streaks of the fundus	HP:0040281	ORPHA:758
5167	ENPP1	HP:0001102	Angioid streaks of the fundus	HP:0040284	ORPHA:51608
5167	ENPP1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5167	ENPP1	HP:0001297	Stroke	HP:0040284	ORPHA:51608
5167	ENPP1	HP:0001297	Stroke	HP:0040283	ORPHA:758
5167	ENPP1	HP:0001293	Cranial nerve compression	-	OMIM:131300
5167	ENPP1	HP:0100817	Renovascular hypertension	HP:0040283	ORPHA:758
5167	ENPP1	HP:0001250	Seizure	-	ORPHA:289176
5167	ENPP1	HP:0001250	Seizure	HP:0040284	ORPHA:51608
5167	ENPP1	HP:0001252	Hypotonia	2/7	OMIM:615777
5167	ENPP1	HP:0001249	Intellectual disability	5/7	OMIM:615777
5167	ENPP1	HP:0001263	Global developmental delay	-	OMIM:615777
5167	ENPP1	HP:0008732	Renal hypophosphatemia	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0007392	Excessive wrinkled skin	HP:0040281	ORPHA:758
5167	ENPP1	HP:0010982	Polygenic inheritance	-	OMIM:601665
5167	ENPP1	HP:0002515	Waddling gait	54/102	OMIM:131300
5167	ENPP1	HP:0002514	Cerebral calcification	HP:0040284	ORPHA:51608
5167	ENPP1	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:758
5167	ENPP1	HP:0003836	Stippled calcification of the shoulder	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0031013	Ankylosis	-	OMIM:208000
5167	ENPP1	HP:0012052	Low serum calcitriol	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:758
5167	ENPP1	HP:0001382	Joint hypermobility	-	OMIM:615777
5167	ENPP1	HP:0001384	Abnormal hip joint morphology	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:289176
5167	ENPP1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5167	ENPP1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5167	ENPP1	HP:0007530	Punctate palmoplantar hyperkeratosis	8/8	OMIM:615522
5167	ENPP1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5167	ENPP1	HP:0001324	Muscle weakness	-	ORPHA:289176
5167	ENPP1	HP:0001324	Muscle weakness	40/96	OMIM:131300
5167	ENPP1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5167	ENPP1	HP:0002673	Coxa valga	1/5	OMIM:613312
5167	ENPP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613312
5167	ENPP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:208000
5167	ENPP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5167	ENPP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:601665
5167	ENPP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
5167	ENPP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5167	ENPP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615522
5167	ENPP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:601665
5167	ENPP1	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0002653	Bone pain	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0002650	Scoliosis	12/14	OMIM:131300
5167	ENPP1	HP:0002647	Aortic dissection	HP:0040284	ORPHA:51608
5167	ENPP1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5167	ENPP1	HP:0002643	Neonatal respiratory distress	1/2	OMIM:208000
5167	ENPP1	HP:0003941	Stippled calcification of the elbow	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5167	ENPP1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5167	ENPP1	HP:0025473	Hyperpigmented papule	HP:0040282	ORPHA:758
5167	ENPP1	HP:0025477	Periarticular calcification	HP:0040282	ORPHA:51608
5167	ENPP1	HP:0025477	Periarticular calcification	1/1	OMIM:208000
5167	ENPP1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5167	ENPP1	HP:0000164	Abnormality of the dentition	0/1	OMIM:615522
5167	ENPP1	HP:0000175	Cleft palate	2/7	OMIM:615777
5167	ENPP1	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:758
5167	ENPP1	HP:0000121	Nephrocalcinosis	HP:0040282	ORPHA:51608
5167	ENPP1	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:758
5167	ENPP1	HP:0000117	Renal phosphate wasting	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0032553	Weak pulse	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0002750	Delayed skeletal maturation	-	OMIM:613312
5167	ENPP1	HP:0002749	Osteomalacia	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0002749	Osteomalacia	HP:0040282	ORPHA:51608
5167	ENPP1	HP:0002024	Malabsorption	HP:0040282	ORPHA:289176
5167	ENPP1	HP:0002013	Vomiting	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
5167	ENPP1	HP:0100529	Abnormal blood phosphate concentration	0/4	OMIM:615522
5167	ENPP1	HP:0100545	Arterial stenosis	-	OMIM:208000
5167	ENPP1	HP:0100545	Arterial stenosis	HP:0040281	ORPHA:758
5167	ENPP1	HP:0002098	Respiratory distress	HP:0040282	ORPHA:51608
5167	ENPP1	HP:0002092	Pulmonary arterial hypertension	HP:0040284	ORPHA:51608
5167	ENPP1	HP:0100559	Lower limb asymmetry	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0003388	Easy fatigability	36/76	OMIM:131300
5167	ENPP1	HP:0100511	Abnormality of vitamin D metabolism	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5167	ENPP1	HP:0100585	Telangiectasia of the skin	HP:0040283	ORPHA:758
5167	ENPP1	HP:0003472	Hypocalcemic tetany	-	ORPHA:289176
5167	ENPP1	HP:0003416	Spinal canal stenosis	HP:0040282	ORPHA:289176
5167	ENPP1	HP:0002172	Postural instability	HP:0040283	ORPHA:758
5167	ENPP1	HP:0010512	Adrenal calcification	HP:0040282	ORPHA:51608
5167	ENPP1	HP:0003593	Infantile onset	5/9	OMIM:615522
5167	ENPP1	HP:0003577	Congenital onset	2/2	OMIM:208000
5167	ENPP1	HP:0003577	Congenital onset	1/8	OMIM:615522
5167	ENPP1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:758
5167	ENPP1	HP:0003584	Late onset	-	OMIM:125853
5167	ENPP1	HP:0100781	Abnormal sacroiliac joint morphology	HP:0040282	ORPHA:289176
5167	ENPP1	HP:0100758	Gangrene	HP:0040284	ORPHA:51608
5167	ENPP1	HP:0010639	Elevated alkaline phosphatase of bone origin	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0010639	Elevated alkaline phosphatase of bone origin	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:51608
5167	ENPP1	HP:0003510	Severe short stature	7/7	OMIM:615777
5167	ENPP1	HP:0020073	Hypopigmented macule	9/9	OMIM:615522
5167	ENPP1	HP:0001065	Striae distensae	HP:0040282	ORPHA:758
5167	ENPP1	HP:0001012	Multiple lipomas	HP:0040283	ORPHA:758
5167	ENPP1	HP:0002315	Headache	-	OMIM:131300
5167	ENPP1	HP:0004976	Knee dislocation	6/7	OMIM:615777
5167	ENPP1	HP:0002326	Transient ischemic attack	HP:0040284	ORPHA:51608
5167	ENPP1	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:758
5167	ENPP1	HP:0025092	Epidermal acanthosis	-	OMIM:615522
5167	ENPP1	HP:0100659	Abnormal cerebral vascular morphology	HP:0040281	ORPHA:758
5167	ENPP1	HP:0100671	Abnormal trabecular bone morphology	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:758
5167	ENPP1	HP:0200067	Recurrent spontaneous abortion	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0009803	Short phalanx of finger	-	OMIM:615777
5167	ENPP1	HP:0010766	Ectopic calcification	HP:0040282	ORPHA:51608
5167	ENPP1	HP:0010766	Ectopic calcification	4/8	OMIM:615522
5167	ENPP1	HP:0100686	Enthesitis	HP:0040282	ORPHA:289176
5167	ENPP1	HP:0009763	Limb pain	63/92	OMIM:131300
5167	ENPP1	HP:0004963	Calcification of the aorta	HP:0040281	ORPHA:51608
5167	ENPP1	HP:0003623	Neonatal onset	1/1	OMIM:208000
5167	ENPP1	HP:0004966	Medial calcification of large arteries	HP:0040282	ORPHA:51608
5167	ENPP1	HP:0004940	Generalized arterial calcification	2/2	OMIM:208000
5167	ENPP1	HP:0003621	Juvenile onset	-	OMIM:131300
5167	ENPP1	HP:0003621	Juvenile onset	4/5	OMIM:613312
5167	ENPP1	HP:0004912	Hypophosphatemic rickets	HP:0040280	ORPHA:289176
5167	ENPP1	HP:0004912	Hypophosphatemic rickets	HP:0040282	ORPHA:51608
5167	ENPP1	HP:0004912	Hypophosphatemic rickets	HP:0040283	OMIM:208000
5167	ENPP1	HP:0004912	Hypophosphatemic rickets	5/5	OMIM:613312
5167	ENPP1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5167	ENPP1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5167	ENPP1	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
5167	ENPP1	HP:0031819	Increased waist to hip ratio	-	OMIM:601665
5167	ENPP1	HP:0000630	Abnormal retinal artery morphology	HP:0040283	ORPHA:51608
5167	ENPP1	HP:6001056	Out-toeing	-	OMIM:131300
5167	ENPP1	HP:0000651	Diplopia	-	OMIM:131300
5167	ENPP1	HP:0001945	Fever	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0001956	Truncal obesity	2/7	OMIM:615777
5167	ENPP1	HP:0001920	Renal artery stenosis	1/1	OMIM:208000
5167	ENPP1	HP:0001903	Anemia	HP:0040283	OMIM:131300
5167	ENPP1	HP:0010049	Short metacarpal	-	OMIM:615777
5167	ENPP1	HP:0011344	Severe global developmental delay	HP:0040284	ORPHA:51608
5167	ENPP1	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0000678	Dental crowding	-	OMIM:615777
5167	ENPP1	HP:0000685	Hypoplasia of teeth	-	OMIM:613312
5167	ENPP1	HP:0000670	Carious teeth	-	OMIM:131300
5167	ENPP1	HP:0000670	Carious teeth	HP:0040284	OMIM:613312
5167	ENPP1	HP:0011304	Broad thumb	2/7	OMIM:615777
5167	ENPP1	HP:0000668	Hypodontia	-	OMIM:615777
5167	ENPP1	HP:0000664	Synophrys	-	OMIM:615777
5167	ENPP1	HP:0004322	Short stature	4/5	OMIM:613312
5167	ENPP1	HP:0004322	Short stature	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0004322	Short stature	HP:0040283	OMIM:208000
5167	ENPP1	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:758
5167	ENPP1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:758
5167	ENPP1	HP:0003074	Hyperglycemia	0/4	OMIM:615522
5167	ENPP1	HP:0004396	Poor appetite	-	OMIM:131300
5167	ENPP1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5167	ENPP1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5167	ENPP1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5167	ENPP1	HP:0003026	Short long bone	7/7	OMIM:615777
5167	ENPP1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5167	ENPP1	HP:0003020	Enlargement of the wrists	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5167	ENPP1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5167	ENPP1	HP:0000765	Abnormal thorax morphology	HP:0040283	ORPHA:758
5167	ENPP1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5167	ENPP1	HP:0100036	Pseudo-fractures	HP:0040282	ORPHA:289176
5167	ENPP1	HP:0000737	Irritability	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0000750	Delayed speech and language development	-	OMIM:615777
5167	ENPP1	HP:0009164	Abnormal calcification of the carpal bones	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0011463	Childhood onset	1/5	OMIM:613312
5167	ENPP1	HP:0011463	Childhood onset	3/8	OMIM:615522
5167	ENPP1	HP:0011461	Fetal onset	7/7	OMIM:615777
5167	ENPP1	HP:0000774	Narrow chest	2/7	OMIM:615777
5167	ENPP1	HP:0003109	Hyperphosphaturia	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0003109	Hyperphosphaturia	HP:0040284	ORPHA:51608
5167	ENPP1	HP:0003109	Hyperphosphaturia	-	OMIM:613312
5167	ENPP1	HP:0030757	Tooth abscess	HP:0040282	ORPHA:289176
5167	ENPP1	HP:0004417	Intermittent claudication	HP:0040282	ORPHA:758
5167	ENPP1	HP:0005764	Polyarticular arthritis	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0000926	Platyspondyly	1/7	OMIM:615777
5167	ENPP1	HP:0003180	Flat acetabular roof	-	OMIM:615777
5167	ENPP1	HP:0003155	Elevated circulating alkaline phosphatase concentration	4/5	OMIM:613312
5167	ENPP1	HP:0004482	Relative macrocephaly	-	OMIM:615777
5167	ENPP1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5167	ENPP1	HP:0000855	Insulin resistance	-	OMIM:125853
5167	ENPP1	HP:0011506	Choroidal neovascularization	HP:0040284	ORPHA:51608
5167	ENPP1	HP:0011506	Choroidal neovascularization	HP:0040283	ORPHA:758
5167	ENPP1	HP:0000822	Hypertension	HP:0040283	ORPHA:758
5167	ENPP1	HP:0000822	Hypertension	1/2	OMIM:208000
5167	ENPP1	HP:0000822	Hypertension	HP:0040282	ORPHA:51608
5167	ENPP1	HP:0000823	Delayed puberty	-	OMIM:131300
5167	ENPP1	HP:0000894	Short clavicles	-	OMIM:615777
5167	ENPP1	HP:0004576	Sclerotic vertebral endplates	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0003207	Arterial calcification	HP:0040281	ORPHA:51608
5167	ENPP1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5167	ENPP1	HP:0045059	Hyperkeratotic papule	1/1	OMIM:615522
5167	ENPP1	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:758
5167	ENPP1	HP:0000974	Hyperextensible skin	HP:0040283	ORPHA:758
5167	ENPP1	HP:0000982	Palmoplantar keratoderma	8/8	OMIM:615522
5167	ENPP1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5167	ENPP1	HP:0000951	Abnormality of the skin	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:758
5167	ENPP1	HP:0000969	Edema	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0000961	Cyanosis	HP:0040282	ORPHA:51608
5167	ENPP1	HP:0000962	Hyperkeratosis	-	OMIM:615522
5167	ENPP1	HP:0033027	Retinal peau d'orange	HP:0040282	ORPHA:758
5167	ENPP1	HP:0040162	Orthokeratosis	-	OMIM:615522
5167	ENPP1	HP:0040197	Encephalomalacia	HP:0040284	ORPHA:51608
5167	ENPP1	HP:0000286	Epicanthus	1/7	OMIM:615777
5167	ENPP1	HP:0000280	Coarse facial features	2/7	OMIM:615777
5167	ENPP1	HP:0001595	Abnormal hair morphology	0/1	OMIM:615522
5167	ENPP1	HP:0001597	Abnormal nail morphology	0/1	OMIM:615522
5167	ENPP1	HP:0006463	Rickets of the lower limbs	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0005103	Calcification of the auricular cartilage	HP:0040284	ORPHA:51608
5167	ENPP1	HP:0005096	Distal femoral bowing	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0002814	Abnormality of the lower limb	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0002815	Abnormality of the knee	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0002812	Coxa vara	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0002829	Arthralgia	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0002827	Hip dislocation	3/7	OMIM:615777
5167	ENPP1	HP:0000252	Microcephaly	-	OMIM:615777
5167	ENPP1	HP:0001582	Redundant skin	HP:0040282	ORPHA:758
5167	ENPP1	HP:0031313	Abdominal aortic calcification	2/2	OMIM:208000
5167	ENPP1	HP:0031314	Carotid artery calcification	2/2	OMIM:208000
5167	ENPP1	HP:0025520	Calcinosis cutis	2/8	OMIM:615522
5167	ENPP1	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:51608
5167	ENPP1	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0002857	Genu valgum	-	OMIM:131300
5167	ENPP1	HP:0002857	Genu valgum	-	OMIM:613312
5167	ENPP1	HP:0001541	Ascites	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0001533	Slender build	-	OMIM:131300
5167	ENPP1	HP:0001507	Growth abnormality	-	OMIM:208000
5167	ENPP1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5167	ENPP1	HP:0001510	Growth delay	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0001513	Obesity	-	OMIM:601665
5167	ENPP1	HP:0007807	Optic nerve compression	-	OMIM:131300
5167	ENPP1	HP:0000381	Stapes ankylosis	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0011036	Abnormality of renal excretion	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0012368	Flat face	7/7	OMIM:615777
5167	ENPP1	HP:0006559	Hepatic calcification	HP:0040281	ORPHA:51608
5167	ENPP1	HP:0005213	Pancreatic calcification	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5167	ENPP1	HP:0002949	Fused cervical vertebrae	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:51608
5167	ENPP1	HP:0000365	Hearing impairment	10/67	OMIM:131300
5167	ENPP1	HP:0012340	Decreased resting energy expenditure	-	OMIM:601665
5167	ENPP1	HP:0001698	Pericardial effusion	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0000343	Long philtrum	1/7	OMIM:615777
5167	ENPP1	HP:0011001	Increased bone mineral density	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0011001	Increased bone mineral density	-	OMIM:131300
5167	ENPP1	HP:0001681	Angina pectoris	HP:0040283	ORPHA:758
5167	ENPP1	HP:0002982	Tibial bowing	HP:0040282	ORPHA:289176
5167	ENPP1	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:758
5167	ENPP1	HP:0000311	Round face	2/7	OMIM:615777
5167	ENPP1	HP:0001642	Pulmonic stenosis	-	OMIM:613312
5167	ENPP1	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:758
5167	ENPP1	HP:0001644	Dilated cardiomyopathy	1/1	OMIM:208000
5167	ENPP1	HP:0001658	Myocardial infarction	-	OMIM:208000
5167	ENPP1	HP:0001640	Cardiomegaly	2/2	OMIM:208000
5167	ENPP1	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0002970	Genu varum	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0002970	Genu varum	3/5	OMIM:613312
5167	ENPP1	HP:0002970	Genu varum	-	OMIM:615777
5167	ENPP1	HP:0001635	Congestive heart failure	1/2	OMIM:208000
5167	ENPP1	HP:0000303	Mandibular prognathia	-	OMIM:131300
5167	ENPP1	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:758
5167	ENPP1	HP:0006690	Myocardial calcification	HP:0040284	ORPHA:51608
5167	ENPP1	HP:0001723	Restrictive cardiomyopathy	HP:0040283	ORPHA:758
5167	ENPP1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:289176
5167	ENPP1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0001717	Coronary artery calcification	HP:0040282	ORPHA:51608
5167	ENPP1	HP:0001717	Coronary artery calcification	-	OMIM:208000
5167	ENPP1	HP:0001714	Ventricular hypertrophy	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5167	ENPP1	HP:0012457	Medial calcification of medium-sized arteries	HP:0040282	ORPHA:51608
5167	ENPP1	HP:0000488	Retinopathy	HP:0040281	ORPHA:758
5167	ENPP1	HP:0001789	Hydrops fetalis	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:758
5167	ENPP1	HP:0000470	Short neck	1/7	OMIM:615777
5167	ENPP1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5167	ENPP1	HP:0001763	Pes planus	1/7	OMIM:615777
5167	ENPP1	HP:0012408	Medullary nephrocalcinosis	HP:0040282	ORPHA:51608
5167	ENPP1	HP:0012408	Medullary nephrocalcinosis	1/5	OMIM:613312
5167	ENPP1	HP:0012409	Cortical nephrocalcinosis	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0000410	Mixed hearing impairment	HP:0040283	ORPHA:51608
5167	ENPP1	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:758
5167	ENPP1	HP:0001840	Metatarsus adductus	-	OMIM:615777
5167	ENPP1	HP:0000520	Proptosis	2/4	OMIM:131300
5167	ENPP1	HP:0000520	Proptosis	7/7	OMIM:615777
5167	ENPP1	HP:0000505	Visual impairment	HP:0040283	ORPHA:758
5167	ENPP1	HP:0000592	Blue sclerae	2/7	OMIM:615777
5167	ENPP1	HP:0000592	Blue sclerae	HP:0040283	ORPHA:758
5167	ENPP1	HP:0000573	Retinal hemorrhage	HP:0040284	ORPHA:51608
5167	ENPP1	HP:0000573	Retinal hemorrhage	HP:0040281	ORPHA:758
5167	ENPP1	HP:0001872	Abnormality of thrombocytes	HP:0040283	ORPHA:758
5167	ENPP1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5167	ENPP1	HP:0012514	Lower limb pain	4/4	OMIM:131300
5172	SLC26A4	HP:0008586	Hypoplasia of the cochlea	HP:0040281	ORPHA:705
5172	SLC26A4	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:95720
5172	SLC26A4	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:95713
5172	SLC26A4	HP:0008554	Cochlear malformation	-	OMIM:274600
5172	SLC26A4	HP:0001254	Lethargy	HP:0040282	ORPHA:95713
5172	SLC26A4	HP:0001252	Hypotonia	HP:0040281	ORPHA:95720
5172	SLC26A4	HP:0001252	Hypotonia	HP:0040281	ORPHA:95713
5172	SLC26A4	HP:0001251	Ataxia	HP:0040283	ORPHA:705
5172	SLC26A4	HP:0001249	Intellectual disability	-	OMIM:274600
5172	SLC26A4	HP:0001249	Intellectual disability	HP:0040283	ORPHA:705
5172	SLC26A4	HP:0001263	Global developmental delay	HP:0040282	ORPHA:95720
5172	SLC26A4	HP:0001263	Global developmental delay	HP:0040282	ORPHA:95713
5172	SLC26A4	HP:0001324	Muscle weakness	HP:0040281	ORPHA:95713
5172	SLC26A4	HP:0000007	Autosomal recessive inheritance	-	OMIM:600791
5172	SLC26A4	HP:0000007	Autosomal recessive inheritance	-	OMIM:274600
5172	SLC26A4	HP:0025484	Increased circulating thyroglobulin concentration	11/14	OMIM:274600
5172	SLC26A4	HP:0025483	Abnormal circulating thyroglobulin concentration	HP:0040281	ORPHA:95713
5172	SLC26A4	HP:0000158	Macroglossia	HP:0040281	ORPHA:95720
5172	SLC26A4	HP:0000158	Macroglossia	HP:0040281	ORPHA:95713
5172	SLC26A4	HP:0002777	Tracheal stenosis	HP:0040283	ORPHA:705
5172	SLC26A4	HP:0033850	Coldness	HP:0040282	ORPHA:95713
5172	SLC26A4	HP:0000112	Nephropathy	HP:0040283	ORPHA:705
5172	SLC26A4	HP:0002019	Constipation	HP:0040281	ORPHA:95720
5172	SLC26A4	HP:0002019	Constipation	HP:0040281	ORPHA:95713
5172	SLC26A4	HP:0005990	Thyroid hypoplasia	HP:0040281	ORPHA:95720
5172	SLC26A4	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:705
5172	SLC26A4	HP:0008191	Thyroid agenesis	HP:0040281	ORPHA:95713
5172	SLC26A4	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:705
5172	SLC26A4	HP:0008223	Compensated hypothyroidism	-	OMIM:274600
5172	SLC26A4	HP:0008282	Unconjugated hyperbilirubinemia	HP:0040282	ORPHA:95713
5172	SLC26A4	HP:0003577	Congenital onset	10/10	OMIM:600791
5172	SLC26A4	HP:0100786	Hypersomnia	HP:0040281	ORPHA:95713
5172	SLC26A4	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:95713
5172	SLC26A4	HP:0002321	Vertigo	HP:0040283	ORPHA:705
5172	SLC26A4	HP:0008527	Congenital sensorineural hearing impairment	15/15	OMIM:274600
5172	SLC26A4	HP:0011387	Enlarged vestibular aqueduct	3/3	OMIM:600791
5172	SLC26A4	HP:0011387	Enlarged vestibular aqueduct	HP:0040281	ORPHA:705
5172	SLC26A4	HP:0004322	Short stature	HP:0040282	ORPHA:95720
5172	SLC26A4	HP:0004322	Short stature	HP:0040282	ORPHA:95713
5172	SLC26A4	HP:0000853	Goiter	HP:0040282	ORPHA:705
5172	SLC26A4	HP:0000853	Goiter	0/10	OMIM:600791
5172	SLC26A4	HP:0000853	Goiter	14/15	OMIM:274600
5172	SLC26A4	HP:0000843	Hyperparathyroidism	HP:0040283	ORPHA:705
5172	SLC26A4	HP:0000821	Hypothyroidism	HP:0040282	ORPHA:705
5172	SLC26A4	HP:0000821	Hypothyroidism	HP:0040281	ORPHA:95720
5172	SLC26A4	HP:0000821	Hypothyroidism	HP:0040281	ORPHA:95713
5172	SLC26A4	HP:0003270	Abdominal distention	HP:0040281	ORPHA:95720
5172	SLC26A4	HP:0003270	Abdominal distention	HP:0040281	ORPHA:95713
5172	SLC26A4	HP:0000952	Jaundice	HP:0040281	ORPHA:95720
5172	SLC26A4	HP:0000282	Facial edema	HP:0040282	ORPHA:95713
5172	SLC26A4	HP:0000280	Coarse facial features	HP:0040281	ORPHA:95720
5172	SLC26A4	HP:0000280	Coarse facial features	HP:0040281	ORPHA:95713
5172	SLC26A4	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:95720
5172	SLC26A4	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:95713
5172	SLC26A4	HP:0000239	Large fontanelles	HP:0040281	ORPHA:95720
5172	SLC26A4	HP:0000239	Large fontanelles	HP:0040281	ORPHA:95713
5172	SLC26A4	HP:0002890	Thyroid carcinoma	HP:0040283	ORPHA:705
5172	SLC26A4	HP:0002890	Thyroid carcinoma	-	OMIM:274600
5172	SLC26A4	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:95713
5172	SLC26A4	HP:0001510	Growth delay	HP:0040281	ORPHA:95720
5172	SLC26A4	HP:0001510	Growth delay	HP:0040282	ORPHA:95713
5172	SLC26A4	HP:0012378	Fatigue	HP:0040281	ORPHA:95720
5172	SLC26A4	HP:0012378	Fatigue	HP:0040281	ORPHA:95713
5172	SLC26A4	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:95713
5172	SLC26A4	HP:0001615	Hoarse cry	HP:0040282	ORPHA:95713
5172	SLC26A4	HP:0000359	Abnormality of the inner ear	HP:0040281	ORPHA:705
5172	SLC26A4	HP:0000376	Incomplete partition of the cochlea type II	0/3	OMIM:600791
5172	SLC26A4	HP:0000407	Sensorineural hearing impairment	10/10	OMIM:600791
5172	SLC26A4	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:705
5172	SLC26A4	HP:0001751	Abnormal vestibular function	-	OMIM:274600
5173	PDYN	HP:0007305	CNS demyelination	-	OMIM:610245
5173	PDYN	HP:0001272	Cerebellar atrophy	1/1	OMIM:610245
5173	PDYN	HP:0001271	Polyneuropathy	1/4	OMIM:610245
5173	PDYN	HP:0001274	Agenesis of corpus callosum	HP:0040283	OMIM:610245
5173	PDYN	HP:0001260	Dysarthria	HP:0040282	ORPHA:101108
5173	PDYN	HP:0001260	Dysarthria	7/9	OMIM:610245
5173	PDYN	HP:0002529	Neuronal loss in central nervous system	-	OMIM:610245
5173	PDYN	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:101108
5173	PDYN	HP:0001347	Hyperreflexia	4/5	OMIM:610245
5173	PDYN	HP:0001337	Tremor	3/4	OMIM:610245
5173	PDYN	HP:0000006	Autosomal dominant inheritance	-	OMIM:610245
5173	PDYN	HP:0001310	Dysmetria	-	OMIM:610245
5173	PDYN	HP:0001310	Dysmetria	HP:0040282	ORPHA:101108
5173	PDYN	HP:0002066	Gait ataxia	8/9	OMIM:610245
5173	PDYN	HP:0002066	Gait ataxia	HP:0040281	ORPHA:101108
5173	PDYN	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:101108
5173	PDYN	HP:0002070	Limb ataxia	9/9	OMIM:610245
5173	PDYN	HP:0002070	Limb ataxia	HP:0040281	ORPHA:101108
5173	PDYN	HP:0003487	Babinski sign	HP:0040282	ORPHA:101108
5173	PDYN	HP:0003487	Babinski sign	2/5	OMIM:610245
5173	PDYN	HP:0002166	Impaired vibration sensation in the lower limbs	3/5	OMIM:610245
5173	PDYN	HP:0003596	Middle age onset	4/9	OMIM:610245
5173	PDYN	HP:0003584	Late onset	5/9	OMIM:610245
5173	PDYN	HP:0003677	Slowly progressive	-	OMIM:610245
5173	PDYN	HP:0010831	Impaired proprioception	HP:0040282	ORPHA:101108
5173	PDYN	HP:0007141	Sensorimotor neuropathy	-	OMIM:610245
5173	PDYN	HP:0006858	Impaired distal proprioception	3/5	OMIM:610245
5173	PDYN	HP:0006886	Impaired distal vibration sensation	HP:0040282	ORPHA:101108
5173	PDYN	HP:0000641	Dysmetric saccades	3/5	OMIM:610245
5173	PDYN	HP:0000514	Slow saccadic eye movements	HP:0040282	ORPHA:101108
5173	PDYN	HP:0000514	Slow saccadic eye movements	-	OMIM:610245
5176	SERPINF1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5176	SERPINF1	HP:0001293	Cranial nerve compression	-	OMIM:131300
5176	SERPINF1	HP:0001270	Motor delay	4/4	OMIM:613982
5176	SERPINF1	HP:0001256	Intellectual disability, mild	-	OMIM:259770
5176	SERPINF1	HP:0001252	Hypotonia	-	OMIM:259770
5176	SERPINF1	HP:0001252	Hypotonia	2/7	OMIM:615777
5176	SERPINF1	HP:0001249	Intellectual disability	5/7	OMIM:615777
5176	SERPINF1	HP:0001263	Global developmental delay	1/1	OMIM:612394
5176	SERPINF1	HP:0001263	Global developmental delay	-	OMIM:615777
5176	SERPINF1	HP:0002515	Waddling gait	54/102	OMIM:131300
5176	SERPINF1	HP:0001382	Joint hypermobility	-	OMIM:259770
5176	SERPINF1	HP:0001382	Joint hypermobility	0/4	OMIM:613982
5176	SERPINF1	HP:0001382	Joint hypermobility	-	OMIM:615777
5176	SERPINF1	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
5176	SERPINF1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5176	SERPINF1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5176	SERPINF1	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
5176	SERPINF1	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
5176	SERPINF1	HP:0002659	Increased susceptibility to fractures	4/4	OMIM:613982
5176	SERPINF1	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
5176	SERPINF1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5176	SERPINF1	HP:0001324	Muscle weakness	40/96	OMIM:131300
5176	SERPINF1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5176	SERPINF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
5176	SERPINF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613982
5176	SERPINF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5176	SERPINF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
5176	SERPINF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5176	SERPINF1	HP:0002650	Scoliosis	1/5	OMIM:259770
5176	SERPINF1	HP:0002650	Scoliosis	1/1	OMIM:612394
5176	SERPINF1	HP:0002650	Scoliosis	12/14	OMIM:131300
5176	SERPINF1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5176	SERPINF1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5176	SERPINF1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5176	SERPINF1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5176	SERPINF1	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
5176	SERPINF1	HP:0000175	Cleft palate	2/7	OMIM:615777
5176	SERPINF1	HP:0002757	Recurrent fractures	4/4	OMIM:613982
5176	SERPINF1	HP:0002757	Recurrent fractures	4/5	OMIM:259770
5176	SERPINF1	HP:0002756	Pathologic fracture	-	OMIM:259770
5176	SERPINF1	HP:0002756	Pathologic fracture	1/1	OMIM:612394
5176	SERPINF1	HP:0002751	Kyphoscoliosis	-	OMIM:259770
5176	SERPINF1	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
5176	SERPINF1	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
5176	SERPINF1	HP:0003388	Easy fatigability	36/76	OMIM:131300
5176	SERPINF1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5176	SERPINF1	HP:0033154	Elevated circulating deoxypyridinoline concentration	2/2	OMIM:613982
5176	SERPINF1	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
5176	SERPINF1	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
5176	SERPINF1	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
5176	SERPINF1	HP:0002164	Nail dysplasia	1/1	OMIM:612394
5176	SERPINF1	HP:0010557	Overlapping fingers	1/2	OMIM:612394
5176	SERPINF1	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
5176	SERPINF1	HP:0003593	Infantile onset	1/5	OMIM:259770
5176	SERPINF1	HP:0003593	Infantile onset	3/3	OMIM:613982
5176	SERPINF1	HP:0003577	Congenital onset	4/5	OMIM:259770
5176	SERPINF1	HP:0002208	Coarse hair	1/1	OMIM:612394
5176	SERPINF1	HP:0003510	Severe short stature	7/7	OMIM:615777
5176	SERPINF1	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
5176	SERPINF1	HP:0025019	Arterial rupture	1/1	OMIM:612394
5176	SERPINF1	HP:0002315	Headache	-	OMIM:131300
5176	SERPINF1	HP:0004976	Knee dislocation	6/7	OMIM:615777
5176	SERPINF1	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
5176	SERPINF1	HP:0009803	Short phalanx of finger	-	OMIM:615777
5176	SERPINF1	HP:0001089	Iris atrophy	-	OMIM:259770
5176	SERPINF1	HP:0009763	Limb pain	63/92	OMIM:131300
5176	SERPINF1	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
5176	SERPINF1	HP:0003621	Juvenile onset	-	OMIM:131300
5176	SERPINF1	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
5176	SERPINF1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5176	SERPINF1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5176	SERPINF1	HP:6001056	Out-toeing	-	OMIM:131300
5176	SERPINF1	HP:0000651	Diplopia	-	OMIM:131300
5176	SERPINF1	HP:0000618	Blindness	5/5	OMIM:259770
5176	SERPINF1	HP:0001956	Truncal obesity	2/7	OMIM:615777
5176	SERPINF1	HP:0001903	Anemia	HP:0040283	OMIM:131300
5176	SERPINF1	HP:0010049	Short metacarpal	-	OMIM:615777
5176	SERPINF1	HP:0000678	Dental crowding	-	OMIM:615777
5176	SERPINF1	HP:0000670	Carious teeth	-	OMIM:131300
5176	SERPINF1	HP:0011304	Broad thumb	2/7	OMIM:615777
5176	SERPINF1	HP:0000668	Hypodontia	-	OMIM:615777
5176	SERPINF1	HP:0000667	Phthisis bulbi	-	OMIM:259770
5176	SERPINF1	HP:0000664	Synophrys	-	OMIM:615777
5176	SERPINF1	HP:0004322	Short stature	-	OMIM:259770
5176	SERPINF1	HP:0004396	Poor appetite	-	OMIM:131300
5176	SERPINF1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5176	SERPINF1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5176	SERPINF1	HP:0003016	Metaphyseal widening	-	OMIM:259770
5176	SERPINF1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5176	SERPINF1	HP:0003026	Short long bone	7/7	OMIM:615777
5176	SERPINF1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5176	SERPINF1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5176	SERPINF1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5176	SERPINF1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5176	SERPINF1	HP:0000750	Delayed speech and language development	-	OMIM:615777
5176	SERPINF1	HP:0000703	Dentinogenesis imperfecta	0/4	OMIM:613982
5176	SERPINF1	HP:0011461	Fetal onset	7/7	OMIM:615777
5176	SERPINF1	HP:0011461	Fetal onset	2/2	OMIM:612394
5176	SERPINF1	HP:0000774	Narrow chest	2/7	OMIM:615777
5176	SERPINF1	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
5176	SERPINF1	HP:0003196	Short nose	1/1	OMIM:612394
5176	SERPINF1	HP:0000926	Platyspondyly	-	OMIM:259770
5176	SERPINF1	HP:0000926	Platyspondyly	1/7	OMIM:615777
5176	SERPINF1	HP:0000926	Platyspondyly	1/1	OMIM:612394
5176	SERPINF1	HP:0003179	Protrusio acetabuli	-	OMIM:613982
5176	SERPINF1	HP:0003180	Flat acetabular roof	-	OMIM:615777
5176	SERPINF1	HP:0003155	Elevated circulating alkaline phosphatase concentration	4/4	OMIM:613982
5176	SERPINF1	HP:0004482	Relative macrocephaly	-	OMIM:615777
5176	SERPINF1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5176	SERPINF1	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
5176	SERPINF1	HP:0000823	Delayed puberty	-	OMIM:131300
5176	SERPINF1	HP:0000894	Short clavicles	-	OMIM:615777
5176	SERPINF1	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
5176	SERPINF1	HP:0004568	Beaking of vertebral bodies	-	OMIM:613982
5176	SERPINF1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5176	SERPINF1	HP:0004586	Biconcave vertebral bodies	-	OMIM:613982
5176	SERPINF1	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
5176	SERPINF1	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
5176	SERPINF1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5176	SERPINF1	HP:0000939	Osteoporosis	4/5	OMIM:259770
5176	SERPINF1	HP:0000938	Osteopenia	1/5	OMIM:259770
5176	SERPINF1	HP:0000938	Osteopenia	1/1	OMIM:612394
5176	SERPINF1	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
5176	SERPINF1	HP:0000286	Epicanthus	1/7	OMIM:615777
5176	SERPINF1	HP:0000280	Coarse facial features	2/7	OMIM:615777
5176	SERPINF1	HP:0000272	Malar flattening	1/1	OMIM:612394
5176	SERPINF1	HP:0007773	Vitreoretinopathy	-	OMIM:259770
5176	SERPINF1	HP:0002812	Coxa vara	-	OMIM:613982
5176	SERPINF1	HP:0002827	Hip dislocation	3/7	OMIM:615777
5176	SERPINF1	HP:0002808	Kyphosis	1/5	OMIM:259770
5176	SERPINF1	HP:0000252	Microcephaly	-	OMIM:259770
5176	SERPINF1	HP:0000252	Microcephaly	-	OMIM:615777
5176	SERPINF1	HP:0001552	Barrel-shaped chest	-	OMIM:259770
5176	SERPINF1	HP:0002857	Genu valgum	-	OMIM:131300
5176	SERPINF1	HP:0001533	Slender build	-	OMIM:131300
5176	SERPINF1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5176	SERPINF1	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
5176	SERPINF1	HP:0007807	Optic nerve compression	-	OMIM:131300
5176	SERPINF1	HP:0012368	Flat face	7/7	OMIM:615777
5176	SERPINF1	HP:0012368	Flat face	1/1	OMIM:612394
5176	SERPINF1	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
5176	SERPINF1	HP:0007875	Congenital blindness	4/5	OMIM:259770
5176	SERPINF1	HP:0007862	Retinal calcification	1/5	OMIM:259770
5176	SERPINF1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5176	SERPINF1	HP:0006488	Bowing of the arm	4/4	OMIM:613982
5176	SERPINF1	HP:0000365	Hearing impairment	0/4	OMIM:613982
5176	SERPINF1	HP:0000365	Hearing impairment	10/67	OMIM:131300
5176	SERPINF1	HP:0000369	Low-set ears	2/2	OMIM:612394
5176	SERPINF1	HP:0000343	Long philtrum	1/7	OMIM:615777
5176	SERPINF1	HP:0011001	Increased bone mineral density	-	OMIM:131300
5176	SERPINF1	HP:0002982	Tibial bowing	1/5	OMIM:259770
5176	SERPINF1	HP:0002979	Bowing of the legs	4/4	OMIM:613982
5176	SERPINF1	HP:0000311	Round face	2/7	OMIM:615777
5176	SERPINF1	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
5176	SERPINF1	HP:0001629	Ventricular septal defect	-	OMIM:259770
5176	SERPINF1	HP:0002953	Vertebral compression fracture	4/4	OMIM:613982
5176	SERPINF1	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
5176	SERPINF1	HP:0002970	Genu varum	-	OMIM:615777
5176	SERPINF1	HP:0000307	Pointed chin	1/2	OMIM:612394
5176	SERPINF1	HP:0000303	Mandibular prognathia	-	OMIM:131300
5176	SERPINF1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
5176	SERPINF1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5176	SERPINF1	HP:0000463	Anteverted nares	1/1	OMIM:612394
5176	SERPINF1	HP:0000470	Short neck	1/7	OMIM:615777
5176	SERPINF1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5176	SERPINF1	HP:0001763	Pes planus	1/7	OMIM:615777
5176	SERPINF1	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
5176	SERPINF1	HP:0000518	Cataract	1/5	OMIM:259770
5176	SERPINF1	HP:0000518	Cataract	1/1	OMIM:612394
5176	SERPINF1	HP:0001840	Metatarsus adductus	-	OMIM:615777
5176	SERPINF1	HP:0000520	Proptosis	2/4	OMIM:131300
5176	SERPINF1	HP:0000520	Proptosis	7/7	OMIM:615777
5176	SERPINF1	HP:0000592	Blue sclerae	4/4	OMIM:613982
5176	SERPINF1	HP:0000592	Blue sclerae	2/7	OMIM:615777
5176	SERPINF1	HP:0000586	Shallow orbits	1/1	OMIM:612394
5176	SERPINF1	HP:0000568	Microphthalmia	1/5	OMIM:259770
5176	SERPINF1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5176	SERPINF1	HP:0012514	Lower limb pain	4/4	OMIM:131300
5176	SERPINF1	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
5176	SERPINF1	HP:0000545	Myopia	1/1	OMIM:612394
5184	PEPD	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:742
5184	PEPD	HP:0009937	Facial hirsutism	-	OMIM:170100
5184	PEPD	HP:0001249	Intellectual disability	HP:0040283	ORPHA:742
5184	PEPD	HP:0001263	Global developmental delay	-	OMIM:170100
5184	PEPD	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:742
5184	PEPD	HP:0007489	Diffuse telangiectasia	-	OMIM:170100
5184	PEPD	HP:0007473	Crusting erythematous dermatitis	-	OMIM:170100
5184	PEPD	HP:0007473	Crusting erythematous dermatitis	HP:0040281	ORPHA:742
5184	PEPD	HP:0000007	Autosomal recessive inheritance	-	OMIM:170100
5184	PEPD	HP:6000828	Reduced tissue peptidase D activity	5/5	OMIM:170100
5184	PEPD	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:742
5184	PEPD	HP:0002719	Recurrent infections	4/4	OMIM:170100
5184	PEPD	HP:0002715	Abnormality of the immune system	HP:0040281	ORPHA:742
5184	PEPD	HP:0002725	Systemic lupus erythematosus	2/19	OMIM:170100
5184	PEPD	HP:0033187	Hyperimidodipeptiduria	-	OMIM:170100
5184	PEPD	HP:0002099	Asthma	7/23	OMIM:170100
5184	PEPD	HP:0002162	Low posterior hairline	-	OMIM:170100
5184	PEPD	HP:0002240	Hepatomegaly	4/4	OMIM:170100
5184	PEPD	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:742
5184	PEPD	HP:0002230	Generalized hirsutism	HP:0040282	ORPHA:742
5184	PEPD	HP:0002211	White forelock	HP:0040282	ORPHA:742
5184	PEPD	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:742
5184	PEPD	HP:0010702	Increased circulating immunoglobulin concentration	13/14	OMIM:170100
5184	PEPD	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040283	ORPHA:742
5184	PEPD	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2/4	OMIM:170100
5184	PEPD	HP:0001007	Hirsutism	HP:0040282	ORPHA:742
5184	PEPD	HP:0200034	Papule	HP:0040281	ORPHA:742
5184	PEPD	HP:0200042	Skin ulcer	14/14	OMIM:170100
5184	PEPD	HP:0200042	Skin ulcer	HP:0040281	ORPHA:742
5184	PEPD	HP:0010783	Erythema	HP:0040281	ORPHA:742
5184	PEPD	HP:0001903	Anemia	3/4	OMIM:170100
5184	PEPD	HP:0011342	Mild global developmental delay	2/4	OMIM:170100
5184	PEPD	HP:0000670	Carious teeth	HP:0040281	ORPHA:742
5184	PEPD	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:742
5184	PEPD	HP:0031956	Elevated circulating aspartate aminotransferase concentration	4/4	OMIM:170100
5184	PEPD	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:742
5184	PEPD	HP:0012786	Recurrent cystitis	HP:0040283	ORPHA:742
5184	PEPD	HP:0011463	Childhood onset	-	OMIM:170100
5184	PEPD	HP:0003196	Short nose	-	OMIM:170100
5184	PEPD	HP:0003272	Abnormal hip bone morphology	HP:0040281	ORPHA:742
5184	PEPD	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:742
5184	PEPD	HP:0000989	Pruritus	HP:0040281	ORPHA:742
5184	PEPD	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:742
5184	PEPD	HP:0000958	Dry skin	HP:0040281	ORPHA:742
5184	PEPD	HP:0000964	Eczematoid dermatitis	4/4	OMIM:170100
5184	PEPD	HP:0000967	Petechiae	3/4	OMIM:170100
5184	PEPD	HP:0000963	Thin skin	HP:0040281	ORPHA:742
5184	PEPD	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:742
5184	PEPD	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:742
5184	PEPD	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:742
5184	PEPD	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:742
5184	PEPD	HP:0000218	High palate	-	OMIM:170100
5184	PEPD	HP:0002857	Genu valgum	HP:0040282	ORPHA:742
5184	PEPD	HP:0001508	Failure to thrive	2/4	OMIM:170100
5184	PEPD	HP:0006579	Prolonged neonatal jaundice	4/4	OMIM:170100
5184	PEPD	HP:0006528	Chronic lung disease	-	OMIM:170100
5184	PEPD	HP:0006532	Recurrent pneumonia	-	OMIM:170100
5184	PEPD	HP:0000365	Hearing impairment	HP:0040281	ORPHA:742
5184	PEPD	HP:0000370	Abnormality of the middle ear	HP:0040281	ORPHA:742
5184	PEPD	HP:0000347	Micrognathia	-	OMIM:170100
5184	PEPD	HP:0000347	Micrognathia	HP:0040282	ORPHA:742
5184	PEPD	HP:0000316	Hypertelorism	4/4	OMIM:170100
5184	PEPD	HP:0000316	Hypertelorism	HP:0040282	ORPHA:742
5184	PEPD	HP:0005280	Depressed nasal bridge	4/4	OMIM:170100
5184	PEPD	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:742
5184	PEPD	HP:0011120	Concave nasal ridge	-	OMIM:170100
5184	PEPD	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:742
5184	PEPD	HP:0001744	Splenomegaly	15/23	OMIM:170100
5184	PEPD	HP:0001744	Splenomegaly	HP:0040283	ORPHA:742
5184	PEPD	HP:0000520	Proptosis	4/4	OMIM:170100
5184	PEPD	HP:0000520	Proptosis	HP:0040283	ORPHA:742
5184	PEPD	HP:0000508	Ptosis	-	OMIM:170100
5184	PEPD	HP:0000505	Visual impairment	HP:0040282	ORPHA:742
5184	PEPD	HP:0011220	Prominent forehead	4/4	OMIM:170100
5184	PEPD	HP:0001873	Thrombocytopenia	3/4	OMIM:170100
5188	GATB	HP:0000007	Autosomal recessive inheritance	-	OMIM:618838
5188	GATB	HP:0008163	Decreased circulating cortisol level	1/2	OMIM:618838
5188	GATB	HP:0001943	Hypoglycemia	2/9	OMIM:618838
5188	GATB	HP:0001903	Anemia	7/7	OMIM:618838
5188	GATB	HP:0003128	Lactic acidosis	9/9	OMIM:618838
5188	GATB	HP:0003236	Elevated circulating creatine kinase concentration	5/9	OMIM:618838
5188	GATB	HP:0001511	Intrauterine growth retardation	2/9	OMIM:618838
5188	GATB	HP:0000365	Hearing impairment	1/1	OMIM:618838
5188	GATB	HP:0001622	Premature birth	2/9	OMIM:618838
5188	GATB	HP:0001640	Cardiomegaly	9/9	OMIM:618838
5188	GATB	HP:0001790	Nonimmune hydrops fetalis	3/9	OMIM:618838
5189	PEX1	HP:0001176	Large hands	HP:0040282	ORPHA:3220
5189	PEX1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5189	PEX1	HP:0001133	Constriction of peripheral visual field	HP:0040281	ORPHA:772
5189	PEX1	HP:0003777	Pili torti	HP:0040281	ORPHA:3220
5189	PEX1	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	-	OMIM:214100
5189	PEX1	HP:0009890	High anterior hairline	HP:0040283	ORPHA:3220
5189	PEX1	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:912
5189	PEX1	HP:0010864	Intellectual disability, severe	-	OMIM:214100
5189	PEX1	HP:0002416	Subependymal cysts	-	OMIM:214100
5189	PEX1	HP:0002415	Leukodystrophy	-	OMIM:601539
5189	PEX1	HP:0001290	Generalized hypotonia	-	OMIM:214100
5189	PEX1	HP:0001290	Generalized hypotonia	-	OMIM:601539
5189	PEX1	HP:0001284	Areflexia	-	OMIM:214100
5189	PEX1	HP:0001250	Seizure	HP:0040283	ORPHA:772
5189	PEX1	HP:0001250	Seizure	HP:0040281	ORPHA:44
5189	PEX1	HP:0001250	Seizure	2/4	OMIM:214100
5189	PEX1	HP:0001250	Seizure	-	OMIM:601539
5189	PEX1	HP:0001250	Seizure	HP:0040282	ORPHA:912
5189	PEX1	HP:0001252	Hypotonia	HP:0040282	ORPHA:772
5189	PEX1	HP:0001252	Hypotonia	HP:0040281	ORPHA:44
5189	PEX1	HP:0001252	Hypotonia	1/1	OMIM:214100
5189	PEX1	HP:0001251	Ataxia	HP:0040282	ORPHA:772
5189	PEX1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3220
5189	PEX1	HP:0001249	Intellectual disability	0/14	OMIM:234580
5189	PEX1	HP:0001265	Hyporeflexia	-	OMIM:214100
5189	PEX1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:3220
5189	PEX1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:772
5189	PEX1	HP:0001263	Global developmental delay	4/4	OMIM:214100
5189	PEX1	HP:0001263	Global developmental delay	20/20	OMIM:601539
5189	PEX1	HP:0001257	Spasticity	HP:0040282	ORPHA:772
5189	PEX1	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:3220
5189	PEX1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	-	OMIM:214100
5189	PEX1	HP:0008665	Clitoral hypertrophy	-	OMIM:214100
5189	PEX1	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:912
5189	PEX1	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:3220
5189	PEX1	HP:0002505	Loss of ambulation	1/2	OMIM:214100
5189	PEX1	HP:0003819	Death in childhood	1/2	OMIM:214100
5189	PEX1	HP:0001399	Hepatic failure	HP:0040281	ORPHA:912
5189	PEX1	HP:0001392	Abnormality of the liver	HP:0040281	ORPHA:44
5189	PEX1	HP:0001395	Hepatic fibrosis	-	OMIM:601539
5189	PEX1	HP:0001394	Cirrhosis	-	OMIM:601539
5189	PEX1	HP:0000047	Hypospadias	-	OMIM:214100
5189	PEX1	HP:0000047	Hypospadias	HP:0040282	ORPHA:912
5189	PEX1	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:44
5189	PEX1	HP:0000028	Cryptorchidism	-	OMIM:214100
5189	PEX1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:912
5189	PEX1	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:912
5189	PEX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5189	PEX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:214100
5189	PEX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:234580
5189	PEX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:601539
5189	PEX1	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:912
5189	PEX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5189	PEX1	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:912
5189	PEX1	HP:0001319	Neonatal hypotonia	-	OMIM:601539
5189	PEX1	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:912
5189	PEX1	HP:0002643	Neonatal respiratory distress	1/1	OMIM:214100
5189	PEX1	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:3220
5189	PEX1	HP:0000158	Macroglossia	-	OMIM:214100
5189	PEX1	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:912
5189	PEX1	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:44
5189	PEX1	HP:0000135	Hypogonadism	HP:0040281	ORPHA:3220
5189	PEX1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5189	PEX1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5189	PEX1	HP:0002705	High, narrow palate	-	OMIM:214100
5189	PEX1	HP:0006297	Enamel hypoplasia	14/14	OMIM:234580
5189	PEX1	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:44
5189	PEX1	HP:0000126	Hydronephrosis	-	OMIM:214100
5189	PEX1	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:912
5189	PEX1	HP:0000107	Renal cyst	-	OMIM:601539
5189	PEX1	HP:0001401	Intrahepatic biliary dysgenesis	-	OMIM:214100
5189	PEX1	HP:0002750	Delayed skeletal maturation	-	OMIM:214100
5189	PEX1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:3220
5189	PEX1	HP:0003355	Aminoaciduria	-	OMIM:214100
5189	PEX1	HP:0002024	Malabsorption	HP:0040282	ORPHA:912
5189	PEX1	HP:0002021	Pyloric stenosis	HP:0040282	ORPHA:912
5189	PEX1	HP:0005989	Redundant neck skin	20/20	OMIM:214100
5189	PEX1	HP:0002015	Dysphagia	1/2	OMIM:214100
5189	PEX1	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:772
5189	PEX1	HP:0011800	Midface retrusion	-	OMIM:601539
5189	PEX1	HP:0002089	Pulmonary hypoplasia	-	OMIM:214100
5189	PEX1	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:912
5189	PEX1	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:912
5189	PEX1	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:772
5189	PEX1	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:772
5189	PEX1	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:912
5189	PEX1	HP:0009487	Ulnar deviation of the hand	-	OMIM:214100
5189	PEX1	HP:0003455	Elevated circulating long chain fatty acid concentration	2/2	OMIM:214100
5189	PEX1	HP:0002120	Cerebral cortical atrophy	1/1	OMIM:214100
5189	PEX1	HP:0002126	Polymicrogyria	-	OMIM:214100
5189	PEX1	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:912
5189	PEX1	HP:0004734	Renal cortical microcysts	-	OMIM:214100
5189	PEX1	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:3220
5189	PEX1	HP:0010571	Elevated circulating phytanic acid concentration	HP:0040281	ORPHA:772
5189	PEX1	HP:0010547	Muscle flaccidity	HP:0040283	ORPHA:3220
5189	PEX1	HP:0008207	Primary adrenal insufficiency	HP:0040281	ORPHA:44
5189	PEX1	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:912
5189	PEX1	HP:0003593	Infantile onset	2/2	OMIM:214100
5189	PEX1	HP:0003593	Infantile onset	14/14	OMIM:234580
5189	PEX1	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:44
5189	PEX1	HP:0002240	Hepatomegaly	-	OMIM:214100
5189	PEX1	HP:0002240	Hepatomegaly	-	OMIM:601539
5189	PEX1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:772
5189	PEX1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:912
5189	PEX1	HP:0002282	Gray matter heterotopia	-	OMIM:214100
5189	PEX1	HP:0010655	Epiphyseal stippling	-	OMIM:601539
5189	PEX1	HP:0010655	Epiphyseal stippling	HP:0040281	ORPHA:912
5189	PEX1	HP:0010655	Epiphyseal stippling	-	OMIM:214100
5189	PEX1	HP:0011968	Feeding difficulties	1/1	OMIM:214100
5189	PEX1	HP:0010628	Facial palsy	HP:0040283	ORPHA:772
5189	PEX1	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:3220
5189	PEX1	HP:0002359	Frequent falls	1/2	OMIM:214100
5189	PEX1	HP:0002376	Developmental regression	HP:0040281	ORPHA:44
5189	PEX1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:44
5189	PEX1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:912
5189	PEX1	HP:0002317	Unsteady gait	1/2	OMIM:214100
5189	PEX1	HP:0100643	Abnormality of nail color	HP:0040281	ORPHA:3220
5189	PEX1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:3220
5189	PEX1	HP:0010808	Protruding tongue	-	OMIM:214100
5189	PEX1	HP:0001088	Brushfield spots	HP:0040283	ORPHA:912
5189	PEX1	HP:0001088	Brushfield spots	-	OMIM:214100
5189	PEX1	HP:0003623	Neonatal onset	1/1	OMIM:214100
5189	PEX1	HP:0003621	Juvenile onset	8/19	OMIM:180100
5189	PEX1	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:912
5189	PEX1	HP:0006894	Hypoplastic olfactory lobes	-	OMIM:214100
5189	PEX1	HP:0006887	Intellectual disability, progressive	-	OMIM:214100
5189	PEX1	HP:0000639	Nystagmus	HP:0040282	ORPHA:772
5189	PEX1	HP:0000639	Nystagmus	HP:0040281	ORPHA:44
5189	PEX1	HP:0000639	Nystagmus	1/2	OMIM:214100
5189	PEX1	HP:0000639	Nystagmus	HP:0040282	ORPHA:912
5189	PEX1	HP:0000648	Optic atrophy	-	OMIM:601539
5189	PEX1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:772
5189	PEX1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:44
5189	PEX1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:912
5189	PEX1	HP:0000614	Abnormal nasolacrimal system morphology	HP:0040281	ORPHA:3220
5189	PEX1	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:912
5189	PEX1	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:912
5189	PEX1	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:44
5189	PEX1	HP:0011362	Abnormal hair quantity	HP:0040281	ORPHA:3220
5189	PEX1	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:44
5189	PEX1	HP:0000682	Abnormal dental enamel morphology	HP:0040281	ORPHA:3220
5189	PEX1	HP:0000679	Taurodontia	HP:0040281	ORPHA:3220
5189	PEX1	HP:0000662	Nyctalopia	26/28	OMIM:180100
5189	PEX1	HP:0000662	Nyctalopia	HP:0040281	ORPHA:772
5189	PEX1	HP:0004322	Short stature	HP:0040281	ORPHA:772
5189	PEX1	HP:0004322	Short stature	HP:0040282	ORPHA:3220
5189	PEX1	HP:0004322	Short stature	HP:0040281	ORPHA:44
5189	PEX1	HP:0004322	Short stature	HP:0040281	ORPHA:912
5189	PEX1	HP:0012736	Profound global developmental delay	HP:0040281	ORPHA:912
5189	PEX1	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:44
5189	PEX1	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:3220
5189	PEX1	HP:0000750	Delayed speech and language development	2/2	OMIM:214100
5189	PEX1	HP:0000750	Delayed speech and language development	-	OMIM:601539
5189	PEX1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:772
5189	PEX1	HP:0000705	Amelogenesis imperfecta	14/14	OMIM:234580
5189	PEX1	HP:0011463	Childhood onset	3/19	OMIM:180100
5189	PEX1	HP:0011462	Young adult onset	8/19	OMIM:180100
5189	PEX1	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:3220
5189	PEX1	HP:0003159	Hyperoxaluria	-	OMIM:601539
5189	PEX1	HP:0004492	Widely patent fontanelles and sutures	-	OMIM:214100
5189	PEX1	HP:0000835	Adrenal hypoplasia	-	OMIM:214100
5189	PEX1	HP:0000819	Diabetes mellitus	HP:0040281	ORPHA:3220
5189	PEX1	HP:0003241	External genital hypoplasia	HP:0040281	ORPHA:3220
5189	PEX1	HP:0045074	Thin eyebrow	HP:0040281	ORPHA:3220
5189	PEX1	HP:0000954	Single transverse palmar crease	11/11	OMIM:214100
5189	PEX1	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:3220
5189	PEX1	HP:0000952	Jaundice	HP:0040281	ORPHA:912
5189	PEX1	HP:0008064	Ichthyosis	HP:0040283	ORPHA:3220
5189	PEX1	HP:0008064	Ichthyosis	HP:0040283	ORPHA:772
5189	PEX1	HP:0011675	Arrhythmia	HP:0040282	ORPHA:3220
5189	PEX1	HP:0011675	Arrhythmia	HP:0040283	ORPHA:772
5189	PEX1	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:44
5189	PEX1	HP:0000286	Epicanthus	-	OMIM:214100
5189	PEX1	HP:0000286	Epicanthus	-	OMIM:601539
5189	PEX1	HP:0000286	Epicanthus	HP:0040281	ORPHA:912
5189	PEX1	HP:0001591	Bell-shaped thorax	-	OMIM:214100
5189	PEX1	HP:0000260	Wide anterior fontanel	1/1	OMIM:214100
5189	PEX1	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:44
5189	PEX1	HP:0000260	Wide anterior fontanel	HP:0040281	ORPHA:912
5189	PEX1	HP:0000256	Macrocephaly	-	OMIM:214100
5189	PEX1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:44
5189	PEX1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:912
5189	PEX1	HP:0000271	Abnormality of the face	HP:0040283	ORPHA:772
5189	PEX1	HP:0000272	Malar flattening	-	OMIM:214100
5189	PEX1	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:44
5189	PEX1	HP:0007759	Opacification of the corneal stroma	-	OMIM:214100
5189	PEX1	HP:0007754	Macular dystrophy	2/12	OMIM:234580
5189	PEX1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5189	PEX1	HP:0000244	Brachyturricephaly	-	OMIM:214100
5189	PEX1	HP:0000252	Microcephaly	HP:0040282	ORPHA:912
5189	PEX1	HP:0000218	High palate	-	OMIM:214100
5189	PEX1	HP:0000218	High palate	HP:0040282	ORPHA:912
5189	PEX1	HP:0001522	Death in infancy	HP:0040281	ORPHA:912
5189	PEX1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:772
5189	PEX1	HP:0001508	Failure to thrive	-	OMIM:214100
5189	PEX1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:912
5189	PEX1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5189	PEX1	HP:0007814	Retinal pigment epithelial mottling	7/12	OMIM:234580
5189	PEX1	HP:0011039	Abnormal helix morphology	-	OMIM:214100
5189	PEX1	HP:0012368	Flat face	-	OMIM:214100
5189	PEX1	HP:0012368	Flat face	HP:0040281	ORPHA:912
5189	PEX1	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:912
5189	PEX1	HP:0006579	Prolonged neonatal jaundice	-	OMIM:214100
5189	PEX1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:772
5189	PEX1	HP:0000365	Hearing impairment	HP:0040281	ORPHA:3220
5189	PEX1	HP:0000365	Hearing impairment	4/4	OMIM:214100
5189	PEX1	HP:0000358	Posteriorly rotated ears	-	OMIM:214100
5189	PEX1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:44
5189	PEX1	HP:0000369	Low-set ears	1/1	OMIM:214100
5189	PEX1	HP:0000348	High forehead	-	OMIM:214100
5189	PEX1	HP:0000348	High forehead	HP:0040281	ORPHA:44
5189	PEX1	HP:0000348	High forehead	HP:0040281	ORPHA:912
5189	PEX1	HP:0000347	Micrognathia	1/1	OMIM:214100
5189	PEX1	HP:0000347	Micrognathia	HP:0040282	ORPHA:912
5189	PEX1	HP:0000316	Hypertelorism	1/1	OMIM:214100
5189	PEX1	HP:0001643	Patent ductus arteriosus	1/1	OMIM:214100
5189	PEX1	HP:0000311	Round face	-	OMIM:214100
5189	PEX1	HP:0000311	Round face	HP:0040282	ORPHA:3220
5189	PEX1	HP:0001629	Ventricular septal defect	-	OMIM:214100
5189	PEX1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:912
5189	PEX1	HP:0001623	Breech presentation	-	OMIM:214100
5189	PEX1	HP:0001622	Premature birth	HP:0040282	ORPHA:912
5189	PEX1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:772
5189	PEX1	HP:0002967	Cubitus valgus	-	OMIM:214100
5189	PEX1	HP:0007957	Corneal opacity	HP:0040281	ORPHA:912
5189	PEX1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:772
5189	PEX1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:3220
5189	PEX1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:44
5189	PEX1	HP:0000407	Sensorineural hearing impairment	-	OMIM:214100
5189	PEX1	HP:0000407	Sensorineural hearing impairment	14/14	OMIM:234580
5189	PEX1	HP:0000407	Sensorineural hearing impairment	-	OMIM:601539
5189	PEX1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:912
5189	PEX1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:912
5189	PEX1	HP:0000486	Strabismus	HP:0040281	ORPHA:44
5189	PEX1	HP:0000492	Abnormal eyelid morphology	HP:0040281	ORPHA:3220
5189	PEX1	HP:0000463	Anteverted nares	-	OMIM:214100
5189	PEX1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:44
5189	PEX1	HP:0000474	Thickened nuchal skin fold	HP:0040283	ORPHA:912
5189	PEX1	HP:0000444	Convex nasal ridge	-	OMIM:601539
5189	PEX1	HP:0001762	Talipes equinovarus	-	OMIM:214100
5189	PEX1	HP:0000431	Wide nasal bridge	-	OMIM:601539
5189	PEX1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:44
5189	PEX1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:912
5189	PEX1	HP:0005469	Flat occiput	-	OMIM:214100
5189	PEX1	HP:0005469	Flat occiput	HP:0040282	ORPHA:912
5189	PEX1	HP:0000518	Cataract	-	OMIM:214100
5189	PEX1	HP:0000518	Cataract	HP:0040283	ORPHA:772
5189	PEX1	HP:0000518	Cataract	HP:0040282	ORPHA:44
5189	PEX1	HP:0000518	Cataract	HP:0040282	ORPHA:912
5189	PEX1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5189	PEX1	HP:0000510	Rod-cone dystrophy	-	OMIM:601539
5189	PEX1	HP:0000510	Rod-cone dystrophy	HP:0040281	ORPHA:772
5189	PEX1	HP:0001840	Metatarsus adductus	-	OMIM:214100
5189	PEX1	HP:0000512	Abnormal electroretinogram	-	OMIM:214100
5189	PEX1	HP:0041093	Beau's lines	7/14	OMIM:234580
5189	PEX1	HP:0001820	Leukonychia	4/14	OMIM:234580
5189	PEX1	HP:0001838	Rocker bottom foot	-	OMIM:214100
5189	PEX1	HP:0000508	Ptosis	HP:0040282	ORPHA:44
5189	PEX1	HP:0000505	Visual impairment	HP:0040281	ORPHA:772
5189	PEX1	HP:0000505	Visual impairment	HP:0040282	ORPHA:44
5189	PEX1	HP:0000505	Visual impairment	HP:0040282	ORPHA:912
5189	PEX1	HP:0000501	Glaucoma	-	OMIM:214100
5189	PEX1	HP:0000501	Glaucoma	HP:0040283	ORPHA:912
5189	PEX1	HP:0012592	Albuminuria	-	OMIM:214100
5189	PEX1	HP:0000582	Upslanted palpebral fissure	-	OMIM:214100
5189	PEX1	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:912
5189	PEX1	HP:0000580	Pigmentary retinopathy	-	OMIM:214100
5189	PEX1	HP:0000575	Scotoma	5/18	OMIM:180100
5189	PEX1	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:912
5189	PEX1	HP:0000534	Abnormal eyebrow morphology	HP:0040281	ORPHA:3220
5189	PEX1	HP:0000543	Optic disc pallor	-	OMIM:214100
5189	PEX1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5189	PEX1	HP:0000545	Myopia	-	OMIM:180100
5190	PEX6	HP:0001176	Large hands	HP:0040282	ORPHA:3220
5190	PEX6	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5190	PEX6	HP:0001133	Constriction of peripheral visual field	HP:0040281	ORPHA:772
5190	PEX6	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:95433
5190	PEX6	HP:0003777	Pili torti	HP:0040281	ORPHA:3220
5190	PEX6	HP:0007263	Spinocerebellar atrophy	HP:0040282	ORPHA:95433
5190	PEX6	HP:0009890	High anterior hairline	HP:0040283	ORPHA:3220
5190	PEX6	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:912
5190	PEX6	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5190	PEX6	HP:0001293	Cranial nerve compression	-	OMIM:131300
5190	PEX6	HP:0001290	Generalized hypotonia	1/1	OMIM:614862
5190	PEX6	HP:0001290	Generalized hypotonia	-	OMIM:614863
5190	PEX6	HP:0001288	Gait disturbance	HP:0040282	ORPHA:95433
5190	PEX6	HP:0001288	Gait disturbance	-	OMIM:614863
5190	PEX6	HP:0001250	Seizure	HP:0040283	ORPHA:772
5190	PEX6	HP:0001250	Seizure	HP:0040281	ORPHA:44
5190	PEX6	HP:0001250	Seizure	-	OMIM:614862
5190	PEX6	HP:0001250	Seizure	-	OMIM:614863
5190	PEX6	HP:0001250	Seizure	HP:0040282	ORPHA:912
5190	PEX6	HP:0001252	Hypotonia	HP:0040282	ORPHA:772
5190	PEX6	HP:0001252	Hypotonia	HP:0040281	ORPHA:44
5190	PEX6	HP:0001252	Hypotonia	2/7	OMIM:615777
5190	PEX6	HP:0001251	Ataxia	HP:0040282	ORPHA:772
5190	PEX6	HP:0001251	Ataxia	-	OMIM:614863
5190	PEX6	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3220
5190	PEX6	HP:0001249	Intellectual disability	-	OMIM:614863
5190	PEX6	HP:0001249	Intellectual disability	5/7	OMIM:615777
5190	PEX6	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:3220
5190	PEX6	HP:0001263	Global developmental delay	HP:0040281	ORPHA:772
5190	PEX6	HP:0001263	Global developmental delay	-	OMIM:614863
5190	PEX6	HP:0001263	Global developmental delay	0/4	OMIM:616617
5190	PEX6	HP:0001263	Global developmental delay	-	OMIM:615777
5190	PEX6	HP:0001257	Spasticity	HP:0040282	ORPHA:772
5190	PEX6	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:3220
5190	PEX6	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:912
5190	PEX6	HP:0002515	Waddling gait	54/102	OMIM:131300
5190	PEX6	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:3220
5190	PEX6	HP:0033643	Increased circulating very long-chain fatty acid concentration	1/1	OMIM:614862
5190	PEX6	HP:0001399	Hepatic failure	HP:0040281	ORPHA:912
5190	PEX6	HP:0001392	Abnormality of the liver	HP:0040281	ORPHA:44
5190	PEX6	HP:0000070	Ureterocele	-	OMIM:614863
5190	PEX6	HP:0001382	Joint hypermobility	-	OMIM:615777
5190	PEX6	HP:0000047	Hypospadias	HP:0040282	ORPHA:912
5190	PEX6	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:44
5190	PEX6	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5190	PEX6	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:912
5190	PEX6	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5190	PEX6	HP:0008872	Feeding difficulties in infancy	-	OMIM:614862
5190	PEX6	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:912
5190	PEX6	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5190	PEX6	HP:0001324	Muscle weakness	40/96	OMIM:131300
5190	PEX6	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5190	PEX6	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5190	PEX6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5190	PEX6	HP:0000007	Autosomal recessive inheritance	-	OMIM:614862
5190	PEX6	HP:0000007	Autosomal recessive inheritance	-	OMIM:614863
5190	PEX6	HP:0000007	Autosomal recessive inheritance	-	OMIM:616617
5190	PEX6	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:912
5190	PEX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5190	PEX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5190	PEX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:614863
5190	PEX6	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:912
5190	PEX6	HP:0002650	Scoliosis	12/14	OMIM:131300
5190	PEX6	HP:0001319	Neonatal hypotonia	-	OMIM:614863
5190	PEX6	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:912
5190	PEX6	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5190	PEX6	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5190	PEX6	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5190	PEX6	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5190	PEX6	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:3220
5190	PEX6	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:912
5190	PEX6	HP:0000175	Cleft palate	2/7	OMIM:615777
5190	PEX6	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:44
5190	PEX6	HP:0000135	Hypogonadism	HP:0040281	ORPHA:3220
5190	PEX6	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5190	PEX6	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5190	PEX6	HP:0008935	Generalized neonatal hypotonia	-	OMIM:614862
5190	PEX6	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:44
5190	PEX6	HP:0006254	Elevated circulating alpha-fetoprotein concentration	HP:0040282	ORPHA:95433
5190	PEX6	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:912
5190	PEX6	HP:0000107	Renal cyst	-	OMIM:614862
5190	PEX6	HP:0001410	Decreased liver function	-	OMIM:614863
5190	PEX6	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:3220
5190	PEX6	HP:0002024	Malabsorption	HP:0040282	ORPHA:912
5190	PEX6	HP:0002021	Pyloric stenosis	HP:0040282	ORPHA:912
5190	PEX6	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:772
5190	PEX6	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:912
5190	PEX6	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:912
5190	PEX6	HP:0002066	Gait ataxia	HP:0040282	ORPHA:95433
5190	PEX6	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:95433
5190	PEX6	HP:0003388	Easy fatigability	36/76	OMIM:131300
5190	PEX6	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5190	PEX6	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:772
5190	PEX6	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:95433
5190	PEX6	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:772
5190	PEX6	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:912
5190	PEX6	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:912
5190	PEX6	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:95433
5190	PEX6	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:3220
5190	PEX6	HP:0010571	Elevated circulating phytanic acid concentration	HP:0040281	ORPHA:772
5190	PEX6	HP:0034553	Absence of peroxisomes	1/1	OMIM:614862
5190	PEX6	HP:0010547	Muscle flaccidity	HP:0040283	ORPHA:3220
5190	PEX6	HP:0008207	Primary adrenal insufficiency	HP:0040281	ORPHA:44
5190	PEX6	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:912
5190	PEX6	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:44
5190	PEX6	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:772
5190	PEX6	HP:0002240	Hepatomegaly	1/1	OMIM:614862
5190	PEX6	HP:0002240	Hepatomegaly	-	OMIM:614863
5190	PEX6	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:912
5190	PEX6	HP:0010655	Epiphyseal stippling	1/1	OMIM:614862
5190	PEX6	HP:0010655	Epiphyseal stippling	HP:0040281	ORPHA:912
5190	PEX6	HP:0010628	Facial palsy	HP:0040283	ORPHA:772
5190	PEX6	HP:0003510	Severe short stature	7/7	OMIM:615777
5190	PEX6	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:3220
5190	PEX6	HP:0002376	Developmental regression	HP:0040281	ORPHA:44
5190	PEX6	HP:0002353	EEG abnormality	HP:0040281	ORPHA:44
5190	PEX6	HP:0002353	EEG abnormality	HP:0040281	ORPHA:912
5190	PEX6	HP:0002346	Head tremor	HP:0040282	ORPHA:95433
5190	PEX6	HP:0002315	Headache	-	OMIM:131300
5190	PEX6	HP:0004976	Knee dislocation	6/7	OMIM:615777
5190	PEX6	HP:0100643	Abnormality of nail color	HP:0040281	ORPHA:3220
5190	PEX6	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:3220
5190	PEX6	HP:0009803	Short phalanx of finger	-	OMIM:615777
5190	PEX6	HP:0001088	Brushfield spots	HP:0040283	ORPHA:912
5190	PEX6	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:95433
5190	PEX6	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:95433
5190	PEX6	HP:0009763	Limb pain	63/92	OMIM:131300
5190	PEX6	HP:0003623	Neonatal onset	1/1	OMIM:614862
5190	PEX6	HP:0003621	Juvenile onset	8/19	OMIM:180100
5190	PEX6	HP:0003621	Juvenile onset	-	OMIM:131300
5190	PEX6	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5190	PEX6	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:912
5190	PEX6	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5190	PEX6	HP:0000639	Nystagmus	HP:0040282	ORPHA:772
5190	PEX6	HP:0000639	Nystagmus	HP:0040282	ORPHA:95433
5190	PEX6	HP:0000639	Nystagmus	HP:0040281	ORPHA:44
5190	PEX6	HP:0000639	Nystagmus	-	OMIM:614863
5190	PEX6	HP:0000639	Nystagmus	HP:0040282	ORPHA:912
5190	PEX6	HP:6001056	Out-toeing	-	OMIM:131300
5190	PEX6	HP:0000651	Diplopia	-	OMIM:131300
5190	PEX6	HP:0000648	Optic atrophy	HP:0040283	ORPHA:772
5190	PEX6	HP:0000648	Optic atrophy	HP:0040282	ORPHA:95433
5190	PEX6	HP:0000648	Optic atrophy	-	OMIM:614863
5190	PEX6	HP:0000648	Optic atrophy	HP:0040281	ORPHA:44
5190	PEX6	HP:0000648	Optic atrophy	HP:0040282	ORPHA:912
5190	PEX6	HP:0000618	Blindness	HP:0040282	ORPHA:95433
5190	PEX6	HP:0000614	Abnormal nasolacrimal system morphology	HP:0040281	ORPHA:3220
5190	PEX6	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:912
5190	PEX6	HP:0001954	Recurrent fever	-	OMIM:614863
5190	PEX6	HP:0001956	Truncal obesity	2/7	OMIM:615777
5190	PEX6	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:912
5190	PEX6	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:44
5190	PEX6	HP:0001903	Anemia	HP:0040283	OMIM:131300
5190	PEX6	HP:0010049	Short metacarpal	-	OMIM:615777
5190	PEX6	HP:0011362	Abnormal hair quantity	HP:0040281	ORPHA:3220
5190	PEX6	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:44
5190	PEX6	HP:0000682	Abnormal dental enamel morphology	HP:0040281	ORPHA:3220
5190	PEX6	HP:0000679	Taurodontia	HP:0040281	ORPHA:3220
5190	PEX6	HP:0000678	Dental crowding	-	OMIM:616617
5190	PEX6	HP:0000678	Dental crowding	-	OMIM:615777
5190	PEX6	HP:0000662	Nyctalopia	26/28	OMIM:180100
5190	PEX6	HP:0000662	Nyctalopia	HP:0040281	ORPHA:772
5190	PEX6	HP:0000657	Oculomotor apraxia	-	ORPHA:95433
5190	PEX6	HP:0000670	Carious teeth	-	OMIM:131300
5190	PEX6	HP:0011304	Broad thumb	2/7	OMIM:615777
5190	PEX6	HP:0000668	Hypodontia	-	OMIM:615777
5190	PEX6	HP:0000664	Synophrys	-	OMIM:615777
5190	PEX6	HP:0004322	Short stature	HP:0040281	ORPHA:772
5190	PEX6	HP:0004322	Short stature	HP:0040282	ORPHA:3220
5190	PEX6	HP:0004322	Short stature	HP:0040281	ORPHA:44
5190	PEX6	HP:0004322	Short stature	HP:0040281	ORPHA:912
5190	PEX6	HP:0004396	Poor appetite	-	OMIM:131300
5190	PEX6	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5190	PEX6	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5190	PEX6	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5190	PEX6	HP:0003026	Short long bone	7/7	OMIM:615777
5190	PEX6	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5190	PEX6	HP:0012736	Profound global developmental delay	HP:0040281	ORPHA:912
5190	PEX6	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:44
5190	PEX6	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5190	PEX6	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5190	PEX6	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:3220
5190	PEX6	HP:0000763	Sensory neuropathy	HP:0040282	ORPHA:95433
5190	PEX6	HP:0000762	Decreased nerve conduction velocity	-	OMIM:614863
5190	PEX6	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5190	PEX6	HP:0000750	Delayed speech and language development	-	OMIM:615777
5190	PEX6	HP:0000708	Atypical behavior	HP:0040282	ORPHA:772
5190	PEX6	HP:0000705	Amelogenesis imperfecta	4/4	OMIM:616617
5190	PEX6	HP:0011463	Childhood onset	3/19	OMIM:180100
5190	PEX6	HP:0011462	Young adult onset	8/19	OMIM:180100
5190	PEX6	HP:0011461	Fetal onset	7/7	OMIM:615777
5190	PEX6	HP:0000774	Narrow chest	2/7	OMIM:615777
5190	PEX6	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:3220
5190	PEX6	HP:0003196	Short nose	-	OMIM:614863
5190	PEX6	HP:0000926	Platyspondyly	1/7	OMIM:615777
5190	PEX6	HP:0003180	Flat acetabular roof	-	OMIM:615777
5190	PEX6	HP:0004482	Relative macrocephaly	-	OMIM:615777
5190	PEX6	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5190	PEX6	HP:0000846	Adrenal insufficiency	-	OMIM:614863
5190	PEX6	HP:0000819	Diabetes mellitus	HP:0040281	ORPHA:3220
5190	PEX6	HP:0000823	Delayed puberty	-	OMIM:131300
5190	PEX6	HP:0000894	Short clavicles	-	OMIM:615777
5190	PEX6	HP:0003241	External genital hypoplasia	HP:0040281	ORPHA:3220
5190	PEX6	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5190	PEX6	HP:0045074	Thin eyebrow	HP:0040281	ORPHA:3220
5190	PEX6	HP:0000954	Single transverse palmar crease	-	OMIM:614863
5190	PEX6	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5190	PEX6	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:3220
5190	PEX6	HP:0000952	Jaundice	HP:0040281	ORPHA:912
5190	PEX6	HP:0008064	Ichthyosis	HP:0040283	ORPHA:3220
5190	PEX6	HP:0008064	Ichthyosis	HP:0040283	ORPHA:772
5190	PEX6	HP:0011675	Arrhythmia	HP:0040282	ORPHA:3220
5190	PEX6	HP:0011675	Arrhythmia	HP:0040283	ORPHA:772
5190	PEX6	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:44
5190	PEX6	HP:0000286	Epicanthus	HP:0040281	ORPHA:912
5190	PEX6	HP:0000286	Epicanthus	1/7	OMIM:615777
5190	PEX6	HP:0000280	Coarse facial features	2/7	OMIM:615777
5190	PEX6	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:44
5190	PEX6	HP:0000260	Wide anterior fontanel	HP:0040281	ORPHA:912
5190	PEX6	HP:0000256	Macrocephaly	-	OMIM:614863
5190	PEX6	HP:0000256	Macrocephaly	HP:0040282	ORPHA:44
5190	PEX6	HP:0000256	Macrocephaly	HP:0040282	ORPHA:912
5190	PEX6	HP:0000271	Abnormality of the face	HP:0040283	ORPHA:772
5190	PEX6	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:44
5190	PEX6	HP:0005102	Cochlear degeneration	HP:0040282	ORPHA:95433
5190	PEX6	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5190	PEX6	HP:0002827	Hip dislocation	3/7	OMIM:615777
5190	PEX6	HP:0000252	Microcephaly	HP:0040282	ORPHA:912
5190	PEX6	HP:0000252	Microcephaly	-	OMIM:615777
5190	PEX6	HP:0002878	Respiratory failure	1/1	OMIM:614862
5190	PEX6	HP:0000218	High palate	HP:0040282	ORPHA:912
5190	PEX6	HP:0002857	Genu valgum	-	OMIM:131300
5190	PEX6	HP:0001522	Death in infancy	1/1	OMIM:614862
5190	PEX6	HP:0001522	Death in infancy	HP:0040281	ORPHA:912
5190	PEX6	HP:0001533	Slender build	-	OMIM:131300
5190	PEX6	HP:0001508	Failure to thrive	HP:0040281	ORPHA:772
5190	PEX6	HP:0001508	Failure to thrive	HP:0040281	ORPHA:912
5190	PEX6	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5190	PEX6	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5190	PEX6	HP:0007807	Optic nerve compression	-	OMIM:131300
5190	PEX6	HP:0012368	Flat face	7/7	OMIM:615777
5190	PEX6	HP:0012368	Flat face	HP:0040281	ORPHA:912
5190	PEX6	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:912
5190	PEX6	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5190	PEX6	HP:0000365	Hearing impairment	HP:0040282	ORPHA:772
5190	PEX6	HP:0000365	Hearing impairment	HP:0040282	ORPHA:95433
5190	PEX6	HP:0000365	Hearing impairment	HP:0040281	ORPHA:3220
5190	PEX6	HP:0000365	Hearing impairment	10/67	OMIM:131300
5190	PEX6	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:44
5190	PEX6	HP:0000343	Long philtrum	1/7	OMIM:615777
5190	PEX6	HP:0011001	Increased bone mineral density	-	OMIM:131300
5190	PEX6	HP:0000348	High forehead	HP:0040281	ORPHA:44
5190	PEX6	HP:0000348	High forehead	HP:0040281	ORPHA:912
5190	PEX6	HP:0000347	Micrognathia	HP:0040282	ORPHA:912
5190	PEX6	HP:0000316	Hypertelorism	1/1	OMIM:614862
5190	PEX6	HP:0000316	Hypertelorism	-	OMIM:614863
5190	PEX6	HP:0000311	Round face	2/7	OMIM:615777
5190	PEX6	HP:0000311	Round face	HP:0040282	ORPHA:3220
5190	PEX6	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:912
5190	PEX6	HP:0001622	Premature birth	HP:0040282	ORPHA:912
5190	PEX6	HP:0002970	Genu varum	-	OMIM:615777
5190	PEX6	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:772
5190	PEX6	HP:0000303	Mandibular prognathia	-	OMIM:131300
5190	PEX6	HP:0007957	Corneal opacity	HP:0040281	ORPHA:912
5190	PEX6	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:772
5190	PEX6	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:3220
5190	PEX6	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:44
5190	PEX6	HP:0000407	Sensorineural hearing impairment	-	OMIM:614863
5190	PEX6	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:912
5190	PEX6	HP:0000407	Sensorineural hearing impairment	4/4	OMIM:616617
5190	PEX6	HP:0005280	Depressed nasal bridge	1/1	OMIM:614862
5190	PEX6	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:912
5190	PEX6	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5190	PEX6	HP:0000486	Strabismus	HP:0040281	ORPHA:44
5190	PEX6	HP:0000492	Abnormal eyelid morphology	HP:0040281	ORPHA:3220
5190	PEX6	HP:0000463	Anteverted nares	HP:0040281	ORPHA:44
5190	PEX6	HP:0000474	Thickened nuchal skin fold	HP:0040283	ORPHA:912
5190	PEX6	HP:0000470	Short neck	1/7	OMIM:615777
5190	PEX6	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5190	PEX6	HP:0001763	Pes planus	-	OMIM:616617
5190	PEX6	HP:0001763	Pes planus	1/7	OMIM:615777
5190	PEX6	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:44
5190	PEX6	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:912
5190	PEX6	HP:0005469	Flat occiput	HP:0040282	ORPHA:912
5190	PEX6	HP:0000518	Cataract	HP:0040283	ORPHA:772
5190	PEX6	HP:0000518	Cataract	HP:0040282	ORPHA:44
5190	PEX6	HP:0000518	Cataract	HP:0040282	ORPHA:912
5190	PEX6	HP:0000510	Rod-cone dystrophy	-	OMIM:614863
5190	PEX6	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5190	PEX6	HP:0000510	Rod-cone dystrophy	HP:0040281	ORPHA:772
5190	PEX6	HP:0001840	Metatarsus adductus	-	OMIM:615777
5190	PEX6	HP:0000524	Conjunctival telangiectasia	HP:0040282	ORPHA:95433
5190	PEX6	HP:0000520	Proptosis	2/4	OMIM:131300
5190	PEX6	HP:0000520	Proptosis	7/7	OMIM:615777
5190	PEX6	HP:0041093	Beau's lines	4/4	OMIM:616617
5190	PEX6	HP:0001820	Leukonychia	2/4	OMIM:616617
5190	PEX6	HP:0000508	Ptosis	HP:0040282	ORPHA:44
5190	PEX6	HP:0000505	Visual impairment	HP:0040281	ORPHA:772
5190	PEX6	HP:0000505	Visual impairment	-	OMIM:614863
5190	PEX6	HP:0000505	Visual impairment	HP:0040282	ORPHA:44
5190	PEX6	HP:0000505	Visual impairment	HP:0040282	ORPHA:912
5190	PEX6	HP:0000501	Glaucoma	HP:0040283	ORPHA:912
5190	PEX6	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:614862
5190	PEX6	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:912
5190	PEX6	HP:0000575	Scotoma	5/18	OMIM:180100
5190	PEX6	HP:0000592	Blue sclerae	2/7	OMIM:615777
5190	PEX6	HP:0000556	Retinal dystrophy	-	OMIM:614863
5190	PEX6	HP:0000537	Epicanthus inversus	1/1	OMIM:614862
5190	PEX6	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5190	PEX6	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:912
5190	PEX6	HP:0000534	Abnormal eyebrow morphology	HP:0040281	ORPHA:3220
5190	PEX6	HP:0012514	Lower limb pain	4/4	OMIM:131300
5190	PEX6	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5190	PEX6	HP:0000545	Myopia	-	OMIM:180100
5191	PEX7	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5191	PEX7	HP:0001133	Constriction of peripheral visual field	1/1	OMIM:614879
5191	PEX7	HP:0002460	Distal muscle weakness	1/1	OMIM:614879
5191	PEX7	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:773
5191	PEX7	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:773
5191	PEX7	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5191	PEX7	HP:0001293	Cranial nerve compression	-	OMIM:131300
5191	PEX7	HP:0001271	Polyneuropathy	1/1	OMIM:614879
5191	PEX7	HP:0001250	Seizure	-	OMIM:215100
5191	PEX7	HP:0001252	Hypotonia	HP:0040282	ORPHA:773
5191	PEX7	HP:0001252	Hypotonia	2/7	OMIM:615777
5191	PEX7	HP:0001251	Ataxia	HP:0040281	ORPHA:773
5191	PEX7	HP:0001251	Ataxia	-	OMIM:614879
5191	PEX7	HP:0001251	Ataxia	-	OMIM:266500
5191	PEX7	HP:0001249	Intellectual disability	-	OMIM:215100
5191	PEX7	HP:0001249	Intellectual disability	-	OMIM:614879
5191	PEX7	HP:0001249	Intellectual disability	5/7	OMIM:615777
5191	PEX7	HP:0001265	Hyporeflexia	-	OMIM:266500
5191	PEX7	HP:0001263	Global developmental delay	-	OMIM:615777
5191	PEX7	HP:0001257	Spasticity	-	OMIM:215100
5191	PEX7	HP:0002515	Waddling gait	54/102	OMIM:131300
5191	PEX7	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:773
5191	PEX7	HP:0001371	Flexion contracture	-	OMIM:215100
5191	PEX7	HP:0001382	Joint hypermobility	-	OMIM:615777
5191	PEX7	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5191	PEX7	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5191	PEX7	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5191	PEX7	HP:0001324	Muscle weakness	40/96	OMIM:131300
5191	PEX7	HP:0001324	Muscle weakness	-	OMIM:614879
5191	PEX7	HP:0002654	Multiple epiphyseal dysplasia	-	OMIM:266500
5191	PEX7	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5191	PEX7	HP:0000007	Autosomal recessive inheritance	-	OMIM:215100
5191	PEX7	HP:0000007	Autosomal recessive inheritance	-	OMIM:266500
5191	PEX7	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5191	PEX7	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5191	PEX7	HP:0000007	Autosomal recessive inheritance	-	OMIM:614879
5191	PEX7	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5191	PEX7	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5191	PEX7	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:773
5191	PEX7	HP:0002650	Scoliosis	12/14	OMIM:131300
5191	PEX7	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5191	PEX7	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5191	PEX7	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5191	PEX7	HP:0008905	Rhizomelia	-	OMIM:215100
5191	PEX7	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5191	PEX7	HP:0000175	Cleft palate	-	OMIM:215100
5191	PEX7	HP:0000175	Cleft palate	2/7	OMIM:615777
5191	PEX7	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5191	PEX7	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5191	PEX7	HP:0007663	Reduced visual acuity	1/1	OMIM:614879
5191	PEX7	HP:0002751	Kyphoscoliosis	-	OMIM:215100
5191	PEX7	HP:0004689	Short fourth metatarsal	-	OMIM:266500
5191	PEX7	HP:0002007	Frontal bossing	-	OMIM:215100
5191	PEX7	HP:0002093	Respiratory insufficiency	-	OMIM:215100
5191	PEX7	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:773
5191	PEX7	HP:0003388	Easy fatigability	36/76	OMIM:131300
5191	PEX7	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5191	PEX7	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:773
5191	PEX7	HP:0003474	Somatic sensory dysfunction	-	OMIM:266500
5191	PEX7	HP:0002120	Cerebral cortical atrophy	-	OMIM:215100
5191	PEX7	HP:0003417	Coronal cleft vertebrae	-	OMIM:215100
5191	PEX7	HP:0002188	Delayed CNS myelination	-	OMIM:215100
5191	PEX7	HP:0002164	Nail dysplasia	HP:0040281	ORPHA:773
5191	PEX7	HP:0010571	Elevated circulating phytanic acid concentration	1/1	OMIM:614879
5191	PEX7	HP:0010571	Elevated circulating phytanic acid concentration	-	OMIM:266500
5191	PEX7	HP:0010571	Elevated circulating phytanic acid concentration	-	OMIM:215100
5191	PEX7	HP:0010655	Epiphyseal stippling	-	OMIM:215100
5191	PEX7	HP:0010632	Total anosmia	1/1	OMIM:614879
5191	PEX7	HP:0003510	Severe short stature	7/7	OMIM:615777
5191	PEX7	HP:0003510	Severe short stature	-	OMIM:215100
5191	PEX7	HP:0003690	Limb muscle weakness	-	OMIM:266500
5191	PEX7	HP:0002376	Developmental regression	HP:0040282	ORPHA:773
5191	PEX7	HP:0002315	Headache	-	OMIM:131300
5191	PEX7	HP:0004976	Knee dislocation	6/7	OMIM:615777
5191	PEX7	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:773
5191	PEX7	HP:0009803	Short phalanx of finger	-	OMIM:615777
5191	PEX7	HP:0007141	Sensorimotor neuropathy	-	OMIM:266500
5191	PEX7	HP:0009763	Limb pain	63/92	OMIM:131300
5191	PEX7	HP:0003621	Juvenile onset	8/19	OMIM:180100
5191	PEX7	HP:0003621	Juvenile onset	-	OMIM:131300
5191	PEX7	HP:0003621	Juvenile onset	1/1	OMIM:614879
5191	PEX7	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5191	PEX7	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5191	PEX7	HP:0000639	Nystagmus	HP:0040283	ORPHA:773
5191	PEX7	HP:0000639	Nystagmus	-	OMIM:266500
5191	PEX7	HP:6001056	Out-toeing	-	OMIM:131300
5191	PEX7	HP:0000651	Diplopia	-	OMIM:131300
5191	PEX7	HP:0000616	Miosis	HP:0040282	ORPHA:773
5191	PEX7	HP:0000616	Miosis	-	OMIM:266500
5191	PEX7	HP:0001956	Truncal obesity	2/7	OMIM:615777
5191	PEX7	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:773
5191	PEX7	HP:0001903	Anemia	HP:0040283	OMIM:131300
5191	PEX7	HP:0010049	Short metacarpal	-	OMIM:615777
5191	PEX7	HP:0010049	Short metacarpal	HP:0040282	ORPHA:773
5191	PEX7	HP:0000678	Dental crowding	-	OMIM:615777
5191	PEX7	HP:0000662	Nyctalopia	-	OMIM:266500
5191	PEX7	HP:0000662	Nyctalopia	26/28	OMIM:180100
5191	PEX7	HP:0000662	Nyctalopia	1/1	OMIM:614879
5191	PEX7	HP:0000662	Nyctalopia	HP:0040282	ORPHA:773
5191	PEX7	HP:0000670	Carious teeth	-	OMIM:131300
5191	PEX7	HP:0011304	Broad thumb	2/7	OMIM:615777
5191	PEX7	HP:0000668	Hypodontia	-	OMIM:615777
5191	PEX7	HP:0000664	Synophrys	-	OMIM:615777
5191	PEX7	HP:0004396	Poor appetite	-	OMIM:131300
5191	PEX7	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5191	PEX7	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5191	PEX7	HP:0004374	Hemiplegia/hemiparesis	HP:0040281	ORPHA:773
5191	PEX7	HP:0003015	Flared metaphysis	-	OMIM:215100
5191	PEX7	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5191	PEX7	HP:0003026	Short long bone	7/7	OMIM:615777
5191	PEX7	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5191	PEX7	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5191	PEX7	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5191	PEX7	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5191	PEX7	HP:0012722	Heart block	HP:0040283	ORPHA:773
5191	PEX7	HP:0000750	Delayed speech and language development	-	OMIM:615777
5191	PEX7	HP:0011463	Childhood onset	3/19	OMIM:180100
5191	PEX7	HP:0011462	Young adult onset	8/19	OMIM:180100
5191	PEX7	HP:0011461	Fetal onset	7/7	OMIM:615777
5191	PEX7	HP:0000774	Narrow chest	2/7	OMIM:615777
5191	PEX7	HP:0000926	Platyspondyly	1/7	OMIM:615777
5191	PEX7	HP:0003180	Flat acetabular roof	-	OMIM:615777
5191	PEX7	HP:0004482	Relative macrocephaly	-	OMIM:615777
5191	PEX7	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5191	PEX7	HP:0000823	Delayed puberty	-	OMIM:131300
5191	PEX7	HP:0000894	Short clavicles	-	OMIM:615777
5191	PEX7	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:773
5191	PEX7	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5191	PEX7	HP:0005841	Calcific stippling of infantile cartilaginous skeleton	-	OMIM:215100
5191	PEX7	HP:4000163	Reduced phytanic acid oxidase activity in cultured fibroblasts	20/20	OMIM:266500
5191	PEX7	HP:0000958	Dry skin	HP:0040281	ORPHA:773
5191	PEX7	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5191	PEX7	HP:0008064	Ichthyosis	-	OMIM:266500
5191	PEX7	HP:0008064	Ichthyosis	-	OMIM:215100
5191	PEX7	HP:0008064	Ichthyosis	-	OMIM:614879
5191	PEX7	HP:0008064	Ichthyosis	HP:0040281	ORPHA:773
5191	PEX7	HP:0011675	Arrhythmia	-	OMIM:266500
5191	PEX7	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:773
5191	PEX7	HP:0000286	Epicanthus	1/7	OMIM:615777
5191	PEX7	HP:0000280	Coarse facial features	2/7	OMIM:615777
5191	PEX7	HP:0001596	Alopecia	-	OMIM:215100
5191	PEX7	HP:0000272	Malar flattening	-	OMIM:215100
5191	PEX7	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5191	PEX7	HP:0002827	Hip dislocation	3/7	OMIM:615777
5191	PEX7	HP:0000252	Microcephaly	-	OMIM:215100
5191	PEX7	HP:0000252	Microcephaly	-	OMIM:615777
5191	PEX7	HP:0012211	Abnormal renal physiology	HP:0040283	OMIM:266500
5191	PEX7	HP:0001525	Severe failure to thrive	-	OMIM:215100
5191	PEX7	HP:0002857	Genu valgum	-	OMIM:131300
5191	PEX7	HP:0001533	Slender build	-	OMIM:131300
5191	PEX7	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5191	PEX7	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5191	PEX7	HP:0007807	Optic nerve compression	-	OMIM:131300
5191	PEX7	HP:0012368	Flat face	7/7	OMIM:615777
5191	PEX7	HP:0012368	Flat face	-	OMIM:215100
5191	PEX7	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5191	PEX7	HP:0002922	Increased CSF protein concentration	-	OMIM:266500
5191	PEX7	HP:0000365	Hearing impairment	10/67	OMIM:131300
5191	PEX7	HP:0000343	Long philtrum	1/7	OMIM:615777
5191	PEX7	HP:0011001	Increased bone mineral density	-	OMIM:131300
5191	PEX7	HP:0000347	Micrognathia	-	OMIM:215100
5191	PEX7	HP:0000311	Round face	2/7	OMIM:615777
5191	PEX7	HP:0001640	Cardiomegaly	-	OMIM:266500
5191	PEX7	HP:0002970	Genu varum	-	OMIM:615777
5191	PEX7	HP:0001635	Congestive heart failure	-	OMIM:266500
5191	PEX7	HP:0001638	Cardiomyopathy	1/1	OMIM:614879
5191	PEX7	HP:0001638	Cardiomyopathy	-	OMIM:266500
5191	PEX7	HP:0001638	Cardiomyopathy	HP:0040281	ORPHA:773
5191	PEX7	HP:0000303	Mandibular prognathia	-	OMIM:131300
5191	PEX7	HP:0000407	Sensorineural hearing impairment	-	OMIM:215100
5191	PEX7	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:773
5191	PEX7	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:614879
5191	PEX7	HP:0000407	Sensorineural hearing impairment	-	OMIM:266500
5191	PEX7	HP:0005280	Depressed nasal bridge	-	OMIM:215100
5191	PEX7	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5191	PEX7	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:773
5191	PEX7	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:773
5191	PEX7	HP:0000488	Retinopathy	HP:0040281	ORPHA:773
5191	PEX7	HP:0000458	Anosmia	-	OMIM:266500
5191	PEX7	HP:0000458	Anosmia	-	OMIM:614879
5191	PEX7	HP:0000458	Anosmia	HP:0040281	ORPHA:773
5191	PEX7	HP:0000470	Short neck	1/7	OMIM:615777
5191	PEX7	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5191	PEX7	HP:0001763	Pes planus	1/7	OMIM:615777
5191	PEX7	HP:0001765	Hammertoe	HP:0040282	ORPHA:773
5191	PEX7	HP:0001744	Splenomegaly	HP:0040282	ORPHA:773
5191	PEX7	HP:0001760	Abnormal foot morphology	HP:0040281	ORPHA:773
5191	PEX7	HP:0001761	Pes cavus	HP:0040283	ORPHA:773
5191	PEX7	HP:0001761	Pes cavus	-	OMIM:614879
5191	PEX7	HP:0001761	Pes cavus	-	OMIM:266500
5191	PEX7	HP:0000518	Cataract	HP:0040281	ORPHA:773
5191	PEX7	HP:0000518	Cataract	-	OMIM:614879
5191	PEX7	HP:0000518	Cataract	-	OMIM:266500
5191	PEX7	HP:0000519	Developmental cataract	-	OMIM:215100
5191	PEX7	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5191	PEX7	HP:0000510	Rod-cone dystrophy	1/1	OMIM:614879
5191	PEX7	HP:0000510	Rod-cone dystrophy	-	OMIM:266500
5191	PEX7	HP:0001840	Metatarsus adductus	-	OMIM:615777
5191	PEX7	HP:0000529	Progressive visual loss	HP:0040283	ORPHA:773
5191	PEX7	HP:0000520	Proptosis	2/4	OMIM:131300
5191	PEX7	HP:0000520	Proptosis	7/7	OMIM:615777
5191	PEX7	HP:0000508	Ptosis	HP:0040282	ORPHA:773
5191	PEX7	HP:0000508	Ptosis	-	OMIM:266500
5191	PEX7	HP:0000505	Visual impairment	HP:0040282	ORPHA:773
5191	PEX7	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:773
5191	PEX7	HP:0000582	Upslanted palpebral fissure	-	OMIM:215100
5191	PEX7	HP:0000575	Scotoma	5/18	OMIM:180100
5191	PEX7	HP:0000592	Blue sclerae	2/7	OMIM:615777
5191	PEX7	HP:0000568	Microphthalmia	HP:0040283	ORPHA:773
5191	PEX7	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5191	PEX7	HP:0012514	Lower limb pain	4/4	OMIM:131300
5191	PEX7	HP:0000546	Retinal degeneration	-	OMIM:266500
5191	PEX7	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5191	PEX7	HP:0000545	Myopia	-	OMIM:180100
5192	PEX10	HP:0002495	Impaired vibratory sensation	1/2	OMIM:614871
5192	PEX10	HP:0001133	Constriction of peripheral visual field	HP:0040281	ORPHA:772
5192	PEX10	HP:0002457	Abnormal head movements	HP:0040283	ORPHA:247815
5192	PEX10	HP:0010965	Abnormal circulating phytanic acid concentration	HP:0040282	ORPHA:247815
5192	PEX10	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:247815
5192	PEX10	HP:0007240	Progressive gait ataxia	HP:0040282	ORPHA:247815
5192	PEX10	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:912
5192	PEX10	HP:0002415	Leukodystrophy	1/1	OMIM:614871
5192	PEX10	HP:0001272	Cerebellar atrophy	3/3	OMIM:614871
5192	PEX10	HP:0001284	Areflexia	1/2	OMIM:614871
5192	PEX10	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:247815
5192	PEX10	HP:0001250	Seizure	HP:0040283	ORPHA:772
5192	PEX10	HP:0001250	Seizure	HP:0040281	ORPHA:44
5192	PEX10	HP:0001250	Seizure	1/1	OMIM:614870
5192	PEX10	HP:0001250	Seizure	HP:0040282	ORPHA:912
5192	PEX10	HP:0001252	Hypotonia	HP:0040282	ORPHA:772
5192	PEX10	HP:0001252	Hypotonia	HP:0040281	ORPHA:44
5192	PEX10	HP:0001252	Hypotonia	1/1	OMIM:614870
5192	PEX10	HP:0001252	Hypotonia	1/1	OMIM:614871
5192	PEX10	HP:0001251	Ataxia	HP:0040282	ORPHA:772
5192	PEX10	HP:0001251	Ataxia	3/3	OMIM:614871
5192	PEX10	HP:0001265	Hyporeflexia	HP:0040283	OMIM:614871
5192	PEX10	HP:0001260	Dysarthria	HP:0040282	ORPHA:247815
5192	PEX10	HP:0001260	Dysarthria	2/3	OMIM:614871
5192	PEX10	HP:0001263	Global developmental delay	HP:0040281	ORPHA:772
5192	PEX10	HP:0001263	Global developmental delay	-	ORPHA:247815
5192	PEX10	HP:0001263	Global developmental delay	-	OMIM:614871
5192	PEX10	HP:0001257	Spasticity	HP:0040282	ORPHA:772
5192	PEX10	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:912
5192	PEX10	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	OMIM:614871
5192	PEX10	HP:0003811	Neonatal death	1/1	OMIM:614870
5192	PEX10	HP:0001399	Hepatic failure	HP:0040281	ORPHA:912
5192	PEX10	HP:0001392	Abnormality of the liver	HP:0040281	ORPHA:44
5192	PEX10	HP:0000047	Hypospadias	HP:0040282	ORPHA:912
5192	PEX10	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:247815
5192	PEX10	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:44
5192	PEX10	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:912
5192	PEX10	HP:0008872	Feeding difficulties in infancy	-	OMIM:614870
5192	PEX10	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:912
5192	PEX10	HP:0000007	Autosomal recessive inheritance	-	OMIM:614870
5192	PEX10	HP:0000007	Autosomal recessive inheritance	-	OMIM:614871
5192	PEX10	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:912
5192	PEX10	HP:0001302	Pachygyria	-	OMIM:614870
5192	PEX10	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:912
5192	PEX10	HP:0001319	Neonatal hypotonia	-	OMIM:614871
5192	PEX10	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:912
5192	PEX10	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:912
5192	PEX10	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:44
5192	PEX10	HP:0008935	Generalized neonatal hypotonia	-	OMIM:614870
5192	PEX10	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:44
5192	PEX10	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:912
5192	PEX10	HP:0000107	Renal cyst	1/1	OMIM:614870
5192	PEX10	HP:0001410	Decreased liver function	-	OMIM:614870
5192	PEX10	HP:0001410	Decreased liver function	-	OMIM:614871
5192	PEX10	HP:0002024	Malabsorption	HP:0040282	ORPHA:912
5192	PEX10	HP:0002021	Pyloric stenosis	HP:0040282	ORPHA:912
5192	PEX10	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:772
5192	PEX10	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:247815
5192	PEX10	HP:0002080	Intention tremor	HP:0040283	OMIM:614871
5192	PEX10	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:912
5192	PEX10	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:912
5192	PEX10	HP:0002066	Gait ataxia	2/3	OMIM:614871
5192	PEX10	HP:0002078	Truncal ataxia	HP:0040282	ORPHA:247815
5192	PEX10	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:247815
5192	PEX10	HP:0002070	Limb ataxia	HP:0040282	ORPHA:247815
5192	PEX10	HP:0002070	Limb ataxia	1/2	OMIM:614871
5192	PEX10	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:772
5192	PEX10	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:772
5192	PEX10	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:912
5192	PEX10	HP:0008167	Very long chain fatty acid accumulation	HP:0040282	ORPHA:247815
5192	PEX10	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:912
5192	PEX10	HP:0003438	Absent Achilles reflex	1/2	OMIM:614871
5192	PEX10	HP:0010571	Elevated circulating phytanic acid concentration	HP:0040281	ORPHA:772
5192	PEX10	HP:0010571	Elevated circulating phytanic acid concentration	4/4	OMIM:614871
5192	PEX10	HP:0008207	Primary adrenal insufficiency	HP:0040281	ORPHA:44
5192	PEX10	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:912
5192	PEX10	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:44
5192	PEX10	HP:0003577	Congenital onset	1/1	OMIM:614870
5192	PEX10	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:772
5192	PEX10	HP:0002240	Hepatomegaly	-	OMIM:614870
5192	PEX10	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:912
5192	PEX10	HP:0010655	Epiphyseal stippling	-	OMIM:614870
5192	PEX10	HP:0010655	Epiphyseal stippling	HP:0040281	ORPHA:912
5192	PEX10	HP:0007002	Motor axonal neuropathy	2/2	OMIM:614871
5192	PEX10	HP:0007002	Motor axonal neuropathy	HP:0040281	ORPHA:247815
5192	PEX10	HP:0010628	Facial palsy	HP:0040283	ORPHA:772
5192	PEX10	HP:0003693	Distal amyotrophy	1/2	OMIM:614871
5192	PEX10	HP:0002376	Developmental regression	HP:0040281	ORPHA:44
5192	PEX10	HP:0002353	EEG abnormality	HP:0040281	ORPHA:44
5192	PEX10	HP:0002353	EEG abnormality	HP:0040281	ORPHA:912
5192	PEX10	HP:0003677	Slowly progressive	-	OMIM:614871
5192	PEX10	HP:0003678	Rapidly progressive	-	OMIM:614870
5192	PEX10	HP:0002317	Unsteady gait	1/1	OMIM:614871
5192	PEX10	HP:0001088	Brushfield spots	HP:0040283	ORPHA:912
5192	PEX10	HP:0003621	Juvenile onset	1/2	OMIM:614871
5192	PEX10	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:912
5192	PEX10	HP:0006886	Impaired distal vibration sensation	1/2	OMIM:614871
5192	PEX10	HP:0000639	Nystagmus	HP:0040282	ORPHA:772
5192	PEX10	HP:0000639	Nystagmus	HP:0040281	ORPHA:44
5192	PEX10	HP:0000639	Nystagmus	1/1	OMIM:614871
5192	PEX10	HP:0000639	Nystagmus	HP:0040282	ORPHA:912
5192	PEX10	HP:0000648	Optic atrophy	HP:0040283	ORPHA:772
5192	PEX10	HP:0000648	Optic atrophy	HP:0040281	ORPHA:44
5192	PEX10	HP:0000648	Optic atrophy	HP:0040282	ORPHA:912
5192	PEX10	HP:0000641	Dysmetric saccades	1/1	OMIM:614871
5192	PEX10	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:912
5192	PEX10	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:912
5192	PEX10	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:44
5192	PEX10	HP:0011344	Severe global developmental delay	-	OMIM:614870
5192	PEX10	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:44
5192	PEX10	HP:0000662	Nyctalopia	HP:0040281	ORPHA:772
5192	PEX10	HP:0000657	Oculomotor apraxia	-	ORPHA:247815
5192	PEX10	HP:0004322	Short stature	HP:0040281	ORPHA:772
5192	PEX10	HP:0004322	Short stature	HP:0040281	ORPHA:44
5192	PEX10	HP:0004322	Short stature	HP:0040281	ORPHA:912
5192	PEX10	HP:0012736	Profound global developmental delay	HP:0040281	ORPHA:912
5192	PEX10	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:44
5192	PEX10	HP:0000708	Atypical behavior	HP:0040282	ORPHA:772
5192	PEX10	HP:0011499	Mydriasis	HP:0040283	ORPHA:247815
5192	PEX10	HP:0011463	Childhood onset	2/3	OMIM:614871
5192	PEX10	HP:0100275	Diffuse cerebellar atrophy	HP:0040282	ORPHA:247815
5192	PEX10	HP:0000952	Jaundice	HP:0040281	ORPHA:912
5192	PEX10	HP:0008064	Ichthyosis	HP:0040283	ORPHA:772
5192	PEX10	HP:0011675	Arrhythmia	HP:0040283	ORPHA:772
5192	PEX10	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:44
5192	PEX10	HP:0000286	Epicanthus	HP:0040281	ORPHA:912
5192	PEX10	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:44
5192	PEX10	HP:0000260	Wide anterior fontanel	HP:0040281	ORPHA:912
5192	PEX10	HP:0000256	Macrocephaly	HP:0040282	ORPHA:44
5192	PEX10	HP:0000256	Macrocephaly	HP:0040282	ORPHA:912
5192	PEX10	HP:0000271	Abnormality of the face	HP:0040283	ORPHA:772
5192	PEX10	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:44
5192	PEX10	HP:0007772	Impaired smooth pursuit	1/2	OMIM:614871
5192	PEX10	HP:0007772	Impaired smooth pursuit	HP:0040282	ORPHA:247815
5192	PEX10	HP:0000252	Microcephaly	HP:0040282	ORPHA:912
5192	PEX10	HP:0000218	High palate	HP:0040282	ORPHA:912
5192	PEX10	HP:0001522	Death in infancy	HP:0040281	ORPHA:912
5192	PEX10	HP:0001508	Failure to thrive	HP:0040281	ORPHA:772
5192	PEX10	HP:0001508	Failure to thrive	HP:0040281	ORPHA:912
5192	PEX10	HP:0030048	Colpocephaly	-	OMIM:614870
5192	PEX10	HP:0012368	Flat face	HP:0040281	ORPHA:912
5192	PEX10	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:912
5192	PEX10	HP:0006579	Prolonged neonatal jaundice	1/2	OMIM:614871
5192	PEX10	HP:0002936	Distal sensory impairment	HP:0040283	OMIM:614871
5192	PEX10	HP:0000365	Hearing impairment	HP:0040282	ORPHA:772
5192	PEX10	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:44
5192	PEX10	HP:0000369	Low-set ears	1/1	OMIM:614870
5192	PEX10	HP:0000348	High forehead	HP:0040281	ORPHA:44
5192	PEX10	HP:0000348	High forehead	HP:0040281	ORPHA:912
5192	PEX10	HP:0000347	Micrognathia	HP:0040282	ORPHA:912
5192	PEX10	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:912
5192	PEX10	HP:0001622	Premature birth	HP:0040282	ORPHA:912
5192	PEX10	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:772
5192	PEX10	HP:0007957	Corneal opacity	HP:0040281	ORPHA:912
5192	PEX10	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:772
5192	PEX10	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:44
5192	PEX10	HP:0000407	Sensorineural hearing impairment	-	OMIM:614871
5192	PEX10	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:912
5192	PEX10	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:912
5192	PEX10	HP:0000486	Strabismus	HP:0040281	ORPHA:44
5192	PEX10	HP:0000463	Anteverted nares	HP:0040281	ORPHA:44
5192	PEX10	HP:0000474	Thickened nuchal skin fold	HP:0040283	ORPHA:912
5192	PEX10	HP:0000431	Wide nasal bridge	1/1	OMIM:614870
5192	PEX10	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:44
5192	PEX10	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:912
5192	PEX10	HP:0001761	Pes cavus	HP:0040284	ORPHA:247815
5192	PEX10	HP:0001761	Pes cavus	1/2	OMIM:614871
5192	PEX10	HP:0005469	Flat occiput	HP:0040282	ORPHA:912
5192	PEX10	HP:0000518	Cataract	HP:0040283	ORPHA:772
5192	PEX10	HP:0000518	Cataract	HP:0040282	ORPHA:44
5192	PEX10	HP:0000518	Cataract	HP:0040282	ORPHA:912
5192	PEX10	HP:0000510	Rod-cone dystrophy	HP:0040281	ORPHA:772
5192	PEX10	HP:0000508	Ptosis	HP:0040282	ORPHA:44
5192	PEX10	HP:0000505	Visual impairment	HP:0040281	ORPHA:772
5192	PEX10	HP:0000505	Visual impairment	-	OMIM:614871
5192	PEX10	HP:0000505	Visual impairment	HP:0040282	ORPHA:44
5192	PEX10	HP:0000505	Visual impairment	HP:0040282	ORPHA:912
5192	PEX10	HP:0000501	Glaucoma	HP:0040283	ORPHA:912
5192	PEX10	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:912
5192	PEX10	HP:0012569	Delayed menarche	1/1	OMIM:614871
5192	PEX10	HP:0000556	Retinal dystrophy	-	OMIM:614871
5192	PEX10	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:912
5193	PEX12	HP:0001133	Constriction of peripheral visual field	HP:0040281	ORPHA:772
5193	PEX12	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:912
5193	PEX12	HP:0001290	Generalized hypotonia	-	OMIM:614859
5193	PEX12	HP:0001290	Generalized hypotonia	-	OMIM:266510
5193	PEX12	HP:0001271	Polyneuropathy	-	OMIM:266510
5193	PEX12	HP:0001284	Areflexia	1/1	OMIM:614859
5193	PEX12	HP:0001284	Areflexia	1/1	OMIM:266510
5193	PEX12	HP:0001250	Seizure	HP:0040283	ORPHA:772
5193	PEX12	HP:0001250	Seizure	HP:0040281	ORPHA:44
5193	PEX12	HP:0001250	Seizure	1/1	OMIM:614859
5193	PEX12	HP:0001250	Seizure	HP:0040282	ORPHA:912
5193	PEX12	HP:0001252	Hypotonia	HP:0040282	ORPHA:772
5193	PEX12	HP:0001252	Hypotonia	HP:0040281	ORPHA:44
5193	PEX12	HP:0001252	Hypotonia	1/1	OMIM:266510
5193	PEX12	HP:0001252	Hypotonia	1/1	OMIM:614859
5193	PEX12	HP:0001251	Ataxia	HP:0040282	ORPHA:772
5193	PEX12	HP:0001251	Ataxia	1/1	OMIM:266510
5193	PEX12	HP:0001249	Intellectual disability	1/1	OMIM:266510
5193	PEX12	HP:0001265	Hyporeflexia	-	OMIM:266510
5193	PEX12	HP:0001260	Dysarthria	1/1	OMIM:266510
5193	PEX12	HP:0001263	Global developmental delay	HP:0040281	ORPHA:772
5193	PEX12	HP:0001263	Global developmental delay	1/1	OMIM:266510
5193	PEX12	HP:0001257	Spasticity	HP:0040282	ORPHA:772
5193	PEX12	HP:0002570	Steatorrhea	-	OMIM:266510
5193	PEX12	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:912
5193	PEX12	HP:0033643	Increased circulating very long-chain fatty acid concentration	1/1	OMIM:614859
5193	PEX12	HP:0001399	Hepatic failure	HP:0040281	ORPHA:912
5193	PEX12	HP:0001392	Abnormality of the liver	HP:0040281	ORPHA:44
5193	PEX12	HP:0000047	Hypospadias	HP:0040282	ORPHA:912
5193	PEX12	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:44
5193	PEX12	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:912
5193	PEX12	HP:0008872	Feeding difficulties in infancy	-	OMIM:614859
5193	PEX12	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:912
5193	PEX12	HP:0000007	Autosomal recessive inheritance	-	OMIM:266510
5193	PEX12	HP:0000007	Autosomal recessive inheritance	-	OMIM:614859
5193	PEX12	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:912
5193	PEX12	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:912
5193	PEX12	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:912
5193	PEX12	HP:0002617	Vascular dilatation	-	OMIM:614859
5193	PEX12	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:912
5193	PEX12	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:44
5193	PEX12	HP:0008935	Generalized neonatal hypotonia	-	OMIM:614859
5193	PEX12	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:44
5193	PEX12	HP:0000113	Polycystic kidney dysplasia	1/1	OMIM:614859
5193	PEX12	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:912
5193	PEX12	HP:0002024	Malabsorption	HP:0040282	ORPHA:912
5193	PEX12	HP:0002021	Pyloric stenosis	HP:0040282	ORPHA:912
5193	PEX12	HP:0002033	Poor suck	1/1	OMIM:614859
5193	PEX12	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:772
5193	PEX12	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:912
5193	PEX12	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:912
5193	PEX12	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:772
5193	PEX12	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:772
5193	PEX12	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:912
5193	PEX12	HP:0008167	Very long chain fatty acid accumulation	-	OMIM:266510
5193	PEX12	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:912
5193	PEX12	HP:0010571	Elevated circulating phytanic acid concentration	HP:0040281	ORPHA:772
5193	PEX12	HP:0010571	Elevated circulating phytanic acid concentration	1/1	OMIM:266510
5193	PEX12	HP:0008207	Primary adrenal insufficiency	HP:0040281	ORPHA:44
5193	PEX12	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:912
5193	PEX12	HP:0003593	Infantile onset	1/1	OMIM:266510
5193	PEX12	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:44
5193	PEX12	HP:0003577	Congenital onset	1/1	OMIM:614859
5193	PEX12	HP:0003577	Congenital onset	-	OMIM:266510
5193	PEX12	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:772
5193	PEX12	HP:0002240	Hepatomegaly	-	OMIM:614859
5193	PEX12	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:912
5193	PEX12	HP:0002240	Hepatomegaly	-	OMIM:266510
5193	PEX12	HP:6000396	Elevated CSF guanidinoacetic acid concentration	-	OMIM:266510
5193	PEX12	HP:6000393	Elevated urine trihydroxycholestanoic acid level	-	OMIM:266510
5193	PEX12	HP:0010655	Epiphyseal stippling	-	OMIM:614859
5193	PEX12	HP:0010655	Epiphyseal stippling	HP:0040281	ORPHA:912
5193	PEX12	HP:0010628	Facial palsy	HP:0040283	ORPHA:772
5193	PEX12	HP:0020045	Esodeviation	1/1	OMIM:266510
5193	PEX12	HP:0002376	Developmental regression	HP:0040281	ORPHA:44
5193	PEX12	HP:0002353	EEG abnormality	HP:0040281	ORPHA:44
5193	PEX12	HP:0002353	EEG abnormality	HP:0040281	ORPHA:912
5193	PEX12	HP:0001088	Brushfield spots	HP:0040283	ORPHA:912
5193	PEX12	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:912
5193	PEX12	HP:0000639	Nystagmus	HP:0040282	ORPHA:772
5193	PEX12	HP:0000639	Nystagmus	HP:0040281	ORPHA:44
5193	PEX12	HP:0000639	Nystagmus	HP:0040282	ORPHA:912
5193	PEX12	HP:0000639	Nystagmus	1/1	OMIM:266510
5193	PEX12	HP:0000648	Optic atrophy	HP:0040283	ORPHA:772
5193	PEX12	HP:0000648	Optic atrophy	HP:0040281	ORPHA:44
5193	PEX12	HP:0000648	Optic atrophy	HP:0040282	ORPHA:912
5193	PEX12	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:912
5193	PEX12	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:912
5193	PEX12	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:44
5193	PEX12	HP:0030473	Abnormal light-adapted flicker electroretinogram	1/1	OMIM:266510
5193	PEX12	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:44
5193	PEX12	HP:0000662	Nyctalopia	HP:0040281	ORPHA:772
5193	PEX12	HP:0001999	Abnormal facial shape	-	OMIM:266510
5193	PEX12	HP:0004322	Short stature	HP:0040281	ORPHA:772
5193	PEX12	HP:0004322	Short stature	HP:0040281	ORPHA:44
5193	PEX12	HP:0004322	Short stature	HP:0040281	ORPHA:912
5193	PEX12	HP:0012736	Profound global developmental delay	HP:0040281	ORPHA:912
5193	PEX12	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:44
5193	PEX12	HP:0000708	Atypical behavior	HP:0040282	ORPHA:772
5193	PEX12	HP:0003146	Hypocholesterolemia	-	OMIM:266510
5193	PEX12	HP:0000954	Single transverse palmar crease	-	OMIM:266510
5193	PEX12	HP:0000952	Jaundice	HP:0040281	ORPHA:912
5193	PEX12	HP:0000939	Osteoporosis	-	OMIM:266510
5193	PEX12	HP:0008064	Ichthyosis	HP:0040283	ORPHA:772
5193	PEX12	HP:0011675	Arrhythmia	HP:0040283	ORPHA:772
5193	PEX12	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:44
5193	PEX12	HP:0000286	Epicanthus	HP:0040281	ORPHA:912
5193	PEX12	HP:0000260	Wide anterior fontanel	1/1	OMIM:614859
5193	PEX12	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:44
5193	PEX12	HP:0000260	Wide anterior fontanel	HP:0040281	ORPHA:912
5193	PEX12	HP:0000256	Macrocephaly	HP:0040282	ORPHA:44
5193	PEX12	HP:0000256	Macrocephaly	HP:0040282	ORPHA:912
5193	PEX12	HP:0000271	Abnormality of the face	HP:0040283	ORPHA:772
5193	PEX12	HP:0000272	Malar flattening	-	OMIM:266510
5193	PEX12	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:44
5193	PEX12	HP:0000252	Microcephaly	HP:0040282	ORPHA:912
5193	PEX12	HP:0000218	High palate	HP:0040282	ORPHA:912
5193	PEX12	HP:0001522	Death in infancy	HP:0040281	ORPHA:912
5193	PEX12	HP:0001508	Failure to thrive	HP:0040281	ORPHA:772
5193	PEX12	HP:0001508	Failure to thrive	HP:0040281	ORPHA:912
5193	PEX12	HP:0001508	Failure to thrive	-	OMIM:266510
5193	PEX12	HP:0012368	Flat face	-	OMIM:266510
5193	PEX12	HP:0012368	Flat face	1/1	OMIM:614859
5193	PEX12	HP:0012368	Flat face	HP:0040281	ORPHA:912
5193	PEX12	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:912
5193	PEX12	HP:0000365	Hearing impairment	HP:0040282	ORPHA:772
5193	PEX12	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:44
5193	PEX12	HP:0000369	Low-set ears	1/1	OMIM:614859
5193	PEX12	HP:0000348	High forehead	1/1	OMIM:614859
5193	PEX12	HP:0000348	High forehead	HP:0040281	ORPHA:44
5193	PEX12	HP:0000348	High forehead	HP:0040281	ORPHA:912
5193	PEX12	HP:0000347	Micrognathia	HP:0040282	ORPHA:912
5193	PEX12	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:912
5193	PEX12	HP:0001622	Premature birth	HP:0040282	ORPHA:912
5193	PEX12	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:772
5193	PEX12	HP:0007957	Corneal opacity	HP:0040281	ORPHA:912
5193	PEX12	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:772
5193	PEX12	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:44
5193	PEX12	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:912
5193	PEX12	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:266510
5193	PEX12	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:912
5193	PEX12	HP:0000486	Strabismus	HP:0040281	ORPHA:44
5193	PEX12	HP:0000463	Anteverted nares	HP:0040281	ORPHA:44
5193	PEX12	HP:0000457	Depressed nasal ridge	-	OMIM:266510
5193	PEX12	HP:0000474	Thickened nuchal skin fold	HP:0040283	ORPHA:912
5193	PEX12	HP:0000431	Wide nasal bridge	1/1	OMIM:614859
5193	PEX12	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:44
5193	PEX12	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:912
5193	PEX12	HP:0005469	Flat occiput	HP:0040282	ORPHA:912
5193	PEX12	HP:0000518	Cataract	HP:0040283	ORPHA:772
5193	PEX12	HP:0000518	Cataract	HP:0040282	ORPHA:44
5193	PEX12	HP:0000518	Cataract	HP:0040282	ORPHA:912
5193	PEX12	HP:0000510	Rod-cone dystrophy	1/1	OMIM:266510
5193	PEX12	HP:0000510	Rod-cone dystrophy	HP:0040281	ORPHA:772
5193	PEX12	HP:0000508	Ptosis	HP:0040282	ORPHA:44
5193	PEX12	HP:0000505	Visual impairment	HP:0040281	ORPHA:772
5193	PEX12	HP:0000505	Visual impairment	HP:0040282	ORPHA:44
5193	PEX12	HP:0000505	Visual impairment	HP:0040282	ORPHA:912
5193	PEX12	HP:0000501	Glaucoma	HP:0040283	ORPHA:912
5193	PEX12	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:912
5193	PEX12	HP:0001892	Abnormal bleeding	-	OMIM:266510
5193	PEX12	HP:0000556	Retinal dystrophy	-	OMIM:266510
5193	PEX12	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:912
5194	PEX13	HP:0001133	Constriction of peripheral visual field	HP:0040281	ORPHA:772
5194	PEX13	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:912
5194	PEX13	HP:0001250	Seizure	HP:0040283	ORPHA:772
5194	PEX13	HP:0001250	Seizure	HP:0040281	ORPHA:44
5194	PEX13	HP:0001250	Seizure	-	OMIM:614883
5194	PEX13	HP:0001250	Seizure	HP:0040282	ORPHA:912
5194	PEX13	HP:0001252	Hypotonia	HP:0040282	ORPHA:772
5194	PEX13	HP:0001252	Hypotonia	HP:0040281	ORPHA:44
5194	PEX13	HP:0001252	Hypotonia	1/1	OMIM:614885
5194	PEX13	HP:0001251	Ataxia	HP:0040282	ORPHA:772
5194	PEX13	HP:0001263	Global developmental delay	HP:0040281	ORPHA:772
5194	PEX13	HP:0001263	Global developmental delay	-	OMIM:614883
5194	PEX13	HP:0001257	Spasticity	HP:0040282	ORPHA:772
5194	PEX13	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:912
5194	PEX13	HP:0001399	Hepatic failure	HP:0040281	ORPHA:912
5194	PEX13	HP:0001392	Abnormality of the liver	HP:0040281	ORPHA:44
5194	PEX13	HP:0000047	Hypospadias	HP:0040282	ORPHA:912
5194	PEX13	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:44
5194	PEX13	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:912
5194	PEX13	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:912
5194	PEX13	HP:0001324	Muscle weakness	1/1	OMIM:614885
5194	PEX13	HP:0001339	Lissencephaly	-	OMIM:614883
5194	PEX13	HP:0000007	Autosomal recessive inheritance	-	OMIM:614885
5194	PEX13	HP:0000007	Autosomal recessive inheritance	-	OMIM:614883
5194	PEX13	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:912
5194	PEX13	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:912
5194	PEX13	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:912
5194	PEX13	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:912
5194	PEX13	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:44
5194	PEX13	HP:0008947	Floppy infant	-	OMIM:614883
5194	PEX13	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:44
5194	PEX13	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:912
5194	PEX13	HP:0000107	Renal cyst	-	OMIM:614883
5194	PEX13	HP:0001433	Hepatosplenomegaly	0/1	OMIM:614885
5194	PEX13	HP:0001410	Decreased liver function	-	OMIM:614883
5194	PEX13	HP:0002024	Malabsorption	HP:0040282	ORPHA:912
5194	PEX13	HP:0002021	Pyloric stenosis	HP:0040282	ORPHA:912
5194	PEX13	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:772
5194	PEX13	HP:0003323	Progressive muscle weakness	-	OMIM:614885
5194	PEX13	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:912
5194	PEX13	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:912
5194	PEX13	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:772
5194	PEX13	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:772
5194	PEX13	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:912
5194	PEX13	HP:0002126	Polymicrogyria	-	OMIM:614883
5194	PEX13	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:912
5194	PEX13	HP:0003429	CNS hypomyelination	-	OMIM:614883
5194	PEX13	HP:0002104	Apnea	-	OMIM:614883
5194	PEX13	HP:0010571	Elevated circulating phytanic acid concentration	HP:0040281	ORPHA:772
5194	PEX13	HP:0008207	Primary adrenal insufficiency	HP:0040281	ORPHA:44
5194	PEX13	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:912
5194	PEX13	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:44
5194	PEX13	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:772
5194	PEX13	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:912
5194	PEX13	HP:0100729	Large face	-	OMIM:614883
5194	PEX13	HP:0010655	Epiphyseal stippling	HP:0040281	ORPHA:912
5194	PEX13	HP:0011968	Feeding difficulties	1/1	OMIM:614885
5194	PEX13	HP:0010628	Facial palsy	HP:0040283	ORPHA:772
5194	PEX13	HP:0011947	Respiratory tract infection	-	OMIM:614885
5194	PEX13	HP:0002376	Developmental regression	HP:0040281	ORPHA:44
5194	PEX13	HP:0002353	EEG abnormality	HP:0040281	ORPHA:44
5194	PEX13	HP:0002353	EEG abnormality	HP:0040281	ORPHA:912
5194	PEX13	HP:0001088	Brushfield spots	HP:0040283	ORPHA:912
5194	PEX13	HP:0006829	Severe muscular hypotonia	-	OMIM:614883
5194	PEX13	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:912
5194	PEX13	HP:0005562	Multiple renal cysts	-	OMIM:614883
5194	PEX13	HP:0000639	Nystagmus	HP:0040282	ORPHA:772
5194	PEX13	HP:0000639	Nystagmus	HP:0040281	ORPHA:44
5194	PEX13	HP:0000639	Nystagmus	HP:0040282	ORPHA:912
5194	PEX13	HP:0000648	Optic atrophy	HP:0040283	ORPHA:772
5194	PEX13	HP:0000648	Optic atrophy	HP:0040281	ORPHA:44
5194	PEX13	HP:0000648	Optic atrophy	HP:0040282	ORPHA:912
5194	PEX13	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:912
5194	PEX13	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:912
5194	PEX13	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:44
5194	PEX13	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:44
5194	PEX13	HP:0000662	Nyctalopia	HP:0040281	ORPHA:772
5194	PEX13	HP:0004322	Short stature	HP:0040281	ORPHA:772
5194	PEX13	HP:0004322	Short stature	HP:0040281	ORPHA:44
5194	PEX13	HP:0004322	Short stature	HP:0040281	ORPHA:912
5194	PEX13	HP:0012736	Profound global developmental delay	HP:0040281	ORPHA:912
5194	PEX13	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:44
5194	PEX13	HP:0000708	Atypical behavior	HP:0040282	ORPHA:772
5194	PEX13	HP:0011463	Childhood onset	1/1	OMIM:614885
5194	PEX13	HP:0000952	Jaundice	HP:0040281	ORPHA:912
5194	PEX13	HP:0008064	Ichthyosis	HP:0040283	ORPHA:772
5194	PEX13	HP:0011675	Arrhythmia	HP:0040283	ORPHA:772
5194	PEX13	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:44
5194	PEX13	HP:0000286	Epicanthus	HP:0040281	ORPHA:912
5194	PEX13	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:44
5194	PEX13	HP:0000260	Wide anterior fontanel	-	OMIM:614883
5194	PEX13	HP:0000260	Wide anterior fontanel	HP:0040281	ORPHA:912
5194	PEX13	HP:0000256	Macrocephaly	HP:0040282	ORPHA:44
5194	PEX13	HP:0000256	Macrocephaly	HP:0040282	ORPHA:912
5194	PEX13	HP:0000271	Abnormality of the face	HP:0040283	ORPHA:772
5194	PEX13	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:44
5194	PEX13	HP:0000239	Large fontanelles	-	OMIM:614883
5194	PEX13	HP:0000252	Microcephaly	HP:0040282	ORPHA:912
5194	PEX13	HP:0000218	High palate	HP:0040282	ORPHA:912
5194	PEX13	HP:0001522	Death in infancy	HP:0040281	ORPHA:912
5194	PEX13	HP:0001508	Failure to thrive	HP:0040281	ORPHA:772
5194	PEX13	HP:0001508	Failure to thrive	-	OMIM:614883
5194	PEX13	HP:0001508	Failure to thrive	HP:0040281	ORPHA:912
5194	PEX13	HP:0012368	Flat face	HP:0040281	ORPHA:912
5194	PEX13	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:912
5194	PEX13	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:614883
5194	PEX13	HP:0000365	Hearing impairment	HP:0040282	ORPHA:772
5194	PEX13	HP:0000365	Hearing impairment	1/1	OMIM:614885
5194	PEX13	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:44
5194	PEX13	HP:0000348	High forehead	HP:0040281	ORPHA:44
5194	PEX13	HP:0000348	High forehead	-	OMIM:614883
5194	PEX13	HP:0000348	High forehead	HP:0040281	ORPHA:912
5194	PEX13	HP:0000347	Micrognathia	HP:0040282	ORPHA:912
5194	PEX13	HP:0000325	Triangular face	-	OMIM:614883
5194	PEX13	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:912
5194	PEX13	HP:0001622	Premature birth	HP:0040282	ORPHA:912
5194	PEX13	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:772
5194	PEX13	HP:0007957	Corneal opacity	HP:0040281	ORPHA:912
5194	PEX13	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:772
5194	PEX13	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:44
5194	PEX13	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:912
5194	PEX13	HP:0005280	Depressed nasal bridge	-	OMIM:614883
5194	PEX13	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:912
5194	PEX13	HP:0000486	Strabismus	HP:0040281	ORPHA:44
5194	PEX13	HP:0000463	Anteverted nares	HP:0040281	ORPHA:44
5194	PEX13	HP:0000463	Anteverted nares	-	OMIM:614883
5194	PEX13	HP:0000474	Thickened nuchal skin fold	HP:0040283	ORPHA:912
5194	PEX13	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:44
5194	PEX13	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:912
5194	PEX13	HP:0005469	Flat occiput	HP:0040282	ORPHA:912
5194	PEX13	HP:0000518	Cataract	HP:0040283	ORPHA:772
5194	PEX13	HP:0000518	Cataract	HP:0040282	ORPHA:44
5194	PEX13	HP:0000518	Cataract	-	OMIM:614885
5194	PEX13	HP:0000518	Cataract	HP:0040282	ORPHA:912
5194	PEX13	HP:0000510	Rod-cone dystrophy	HP:0040281	ORPHA:772
5194	PEX13	HP:0000508	Ptosis	HP:0040282	ORPHA:44
5194	PEX13	HP:0000505	Visual impairment	HP:0040281	ORPHA:772
5194	PEX13	HP:0000505	Visual impairment	HP:0040282	ORPHA:44
5194	PEX13	HP:0000505	Visual impairment	HP:0040282	ORPHA:912
5194	PEX13	HP:0000501	Glaucoma	HP:0040283	ORPHA:912
5194	PEX13	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:912
5194	PEX13	HP:0000572	Visual loss	1/1	OMIM:614885
5194	PEX13	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:912
5195	PEX14	HP:0001133	Constriction of peripheral visual field	HP:0040281	ORPHA:772
5195	PEX14	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:912
5195	PEX14	HP:0001290	Generalized hypotonia	1/1	OMIM:614887
5195	PEX14	HP:0001284	Areflexia	1/1	OMIM:614887
5195	PEX14	HP:0001250	Seizure	HP:0040283	ORPHA:772
5195	PEX14	HP:0001250	Seizure	HP:0040281	ORPHA:44
5195	PEX14	HP:0001250	Seizure	1/1	OMIM:614887
5195	PEX14	HP:0001250	Seizure	HP:0040282	ORPHA:912
5195	PEX14	HP:0001252	Hypotonia	HP:0040282	ORPHA:772
5195	PEX14	HP:0001252	Hypotonia	HP:0040281	ORPHA:44
5195	PEX14	HP:0001252	Hypotonia	1/1	OMIM:614887
5195	PEX14	HP:0001251	Ataxia	HP:0040282	ORPHA:772
5195	PEX14	HP:0001263	Global developmental delay	HP:0040281	ORPHA:772
5195	PEX14	HP:0001257	Spasticity	HP:0040282	ORPHA:772
5195	PEX14	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:912
5195	PEX14	HP:0033643	Increased circulating very long-chain fatty acid concentration	1/1	OMIM:614887
5195	PEX14	HP:0003811	Neonatal death	1/1	OMIM:614887
5195	PEX14	HP:0001399	Hepatic failure	HP:0040281	ORPHA:912
5195	PEX14	HP:0001392	Abnormality of the liver	HP:0040281	ORPHA:44
5195	PEX14	HP:0000047	Hypospadias	HP:0040282	ORPHA:912
5195	PEX14	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:44
5195	PEX14	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:912
5195	PEX14	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:912
5195	PEX14	HP:0000007	Autosomal recessive inheritance	-	OMIM:614887
5195	PEX14	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:912
5195	PEX14	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:912
5195	PEX14	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:912
5195	PEX14	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:912
5195	PEX14	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:44
5195	PEX14	HP:0001476	Delayed closure of the anterior fontanelle	-	OMIM:614887
5195	PEX14	HP:0008936	Axial hypotonia	1/1	OMIM:614887
5195	PEX14	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:44
5195	PEX14	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:912
5195	PEX14	HP:0001406	Intrahepatic cholestasis	1/1	OMIM:614887
5195	PEX14	HP:0002024	Malabsorption	HP:0040282	ORPHA:912
5195	PEX14	HP:0002021	Pyloric stenosis	HP:0040282	ORPHA:912
5195	PEX14	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:772
5195	PEX14	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:912
5195	PEX14	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:912
5195	PEX14	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:772
5195	PEX14	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:772
5195	PEX14	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:912
5195	PEX14	HP:0002126	Polymicrogyria	1/1	OMIM:614887
5195	PEX14	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:912
5195	PEX14	HP:0010571	Elevated circulating phytanic acid concentration	HP:0040281	ORPHA:772
5195	PEX14	HP:0008207	Primary adrenal insufficiency	HP:0040281	ORPHA:44
5195	PEX14	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:912
5195	PEX14	HP:0003593	Infantile onset	2/2	OMIM:614887
5195	PEX14	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:44
5195	PEX14	HP:0003577	Congenital onset	1/1	OMIM:614887
5195	PEX14	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:772
5195	PEX14	HP:0002240	Hepatomegaly	1/1	OMIM:614887
5195	PEX14	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:912
5195	PEX14	HP:0002282	Gray matter heterotopia	1/1	OMIM:614887
5195	PEX14	HP:0010655	Epiphyseal stippling	HP:0040281	ORPHA:912
5195	PEX14	HP:0011968	Feeding difficulties	1/1	OMIM:614887
5195	PEX14	HP:0010628	Facial palsy	HP:0040283	ORPHA:772
5195	PEX14	HP:0002376	Developmental regression	HP:0040281	ORPHA:44
5195	PEX14	HP:0002353	EEG abnormality	HP:0040281	ORPHA:44
5195	PEX14	HP:0002353	EEG abnormality	HP:0040281	ORPHA:912
5195	PEX14	HP:0001088	Brushfield spots	HP:0040283	ORPHA:912
5195	PEX14	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:912
5195	PEX14	HP:0000639	Nystagmus	HP:0040282	ORPHA:772
5195	PEX14	HP:0000639	Nystagmus	HP:0040281	ORPHA:44
5195	PEX14	HP:0000639	Nystagmus	HP:0040282	ORPHA:912
5195	PEX14	HP:0000648	Optic atrophy	HP:0040283	ORPHA:772
5195	PEX14	HP:0000648	Optic atrophy	HP:0040281	ORPHA:44
5195	PEX14	HP:0000648	Optic atrophy	HP:0040282	ORPHA:912
5195	PEX14	HP:0000627	Posterior embryotoxon	1/1	OMIM:614887
5195	PEX14	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:912
5195	PEX14	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:912
5195	PEX14	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:44
5195	PEX14	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:44
5195	PEX14	HP:0000662	Nyctalopia	HP:0040281	ORPHA:772
5195	PEX14	HP:0004322	Short stature	HP:0040281	ORPHA:772
5195	PEX14	HP:0004322	Short stature	HP:0040281	ORPHA:44
5195	PEX14	HP:0004322	Short stature	HP:0040281	ORPHA:912
5195	PEX14	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:614887
5195	PEX14	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:614887
5195	PEX14	HP:0012736	Profound global developmental delay	HP:0040281	ORPHA:912
5195	PEX14	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:44
5195	PEX14	HP:0000708	Atypical behavior	HP:0040282	ORPHA:772
5195	PEX14	HP:0003215	Dicarboxylic aciduria	1/1	OMIM:614887
5195	PEX14	HP:0000952	Jaundice	1/1	OMIM:614887
5195	PEX14	HP:0000952	Jaundice	HP:0040281	ORPHA:912
5195	PEX14	HP:0008064	Ichthyosis	HP:0040283	ORPHA:772
5195	PEX14	HP:0011675	Arrhythmia	HP:0040283	ORPHA:772
5195	PEX14	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:44
5195	PEX14	HP:0000286	Epicanthus	HP:0040281	ORPHA:912
5195	PEX14	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:44
5195	PEX14	HP:0000260	Wide anterior fontanel	HP:0040281	ORPHA:912
5195	PEX14	HP:0000256	Macrocephaly	HP:0040282	ORPHA:44
5195	PEX14	HP:0000256	Macrocephaly	HP:0040282	ORPHA:912
5195	PEX14	HP:0000271	Abnormality of the face	HP:0040283	ORPHA:772
5195	PEX14	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:44
5195	PEX14	HP:0000268	Dolichocephaly	1/1	OMIM:614887
5195	PEX14	HP:0000239	Large fontanelles	1/1	OMIM:614887
5195	PEX14	HP:0000252	Microcephaly	HP:0040282	ORPHA:912
5195	PEX14	HP:0000218	High palate	HP:0040282	ORPHA:912
5195	PEX14	HP:0001522	Death in infancy	HP:0040281	ORPHA:912
5195	PEX14	HP:0001508	Failure to thrive	HP:0040281	ORPHA:772
5195	PEX14	HP:0001508	Failure to thrive	HP:0040281	ORPHA:912
5195	PEX14	HP:0012368	Flat face	HP:0040281	ORPHA:912
5195	PEX14	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:912
5195	PEX14	HP:0006571	Reduced number of intrahepatic bile ducts	1/1	OMIM:614887
5195	PEX14	HP:0002908	Conjugated hyperbilirubinemia	1/1	OMIM:614887
5195	PEX14	HP:0000365	Hearing impairment	HP:0040282	ORPHA:772
5195	PEX14	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:44
5195	PEX14	HP:0000348	High forehead	HP:0040281	ORPHA:44
5195	PEX14	HP:0000348	High forehead	1/1	OMIM:614887
5195	PEX14	HP:0000348	High forehead	HP:0040281	ORPHA:912
5195	PEX14	HP:0000347	Micrognathia	1/1	OMIM:614887
5195	PEX14	HP:0000347	Micrognathia	HP:0040282	ORPHA:912
5195	PEX14	HP:0000325	Triangular face	1/1	OMIM:614887
5195	PEX14	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:912
5195	PEX14	HP:0001622	Premature birth	HP:0040282	ORPHA:912
5195	PEX14	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:772
5195	PEX14	HP:0007957	Corneal opacity	HP:0040281	ORPHA:912
5195	PEX14	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:772
5195	PEX14	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:44
5195	PEX14	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:912
5195	PEX14	HP:0005280	Depressed nasal bridge	1/1	OMIM:614887
5195	PEX14	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:912
5195	PEX14	HP:0000486	Strabismus	HP:0040281	ORPHA:44
5195	PEX14	HP:0000463	Anteverted nares	HP:0040281	ORPHA:44
5195	PEX14	HP:0000474	Thickened nuchal skin fold	HP:0040283	ORPHA:912
5195	PEX14	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:44
5195	PEX14	HP:0000431	Wide nasal bridge	1/1	OMIM:614887
5195	PEX14	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:912
5195	PEX14	HP:0005469	Flat occiput	1/1	OMIM:614887
5195	PEX14	HP:0005469	Flat occiput	HP:0040282	ORPHA:912
5195	PEX14	HP:0000518	Cataract	HP:0040283	ORPHA:772
5195	PEX14	HP:0000518	Cataract	HP:0040282	ORPHA:44
5195	PEX14	HP:0000518	Cataract	HP:0040282	ORPHA:912
5195	PEX14	HP:0000510	Rod-cone dystrophy	HP:0040281	ORPHA:772
5195	PEX14	HP:0000508	Ptosis	HP:0040282	ORPHA:44
5195	PEX14	HP:0000505	Visual impairment	HP:0040281	ORPHA:772
5195	PEX14	HP:0000505	Visual impairment	HP:0040282	ORPHA:44
5195	PEX14	HP:0000505	Visual impairment	HP:0040282	ORPHA:912
5195	PEX14	HP:0000501	Glaucoma	HP:0040283	ORPHA:912
5195	PEX14	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:912
5195	PEX14	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:912
5199	CFP	HP:0001419	X-linked recessive inheritance	-	OMIM:312060
5199	CFP	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:312060
5199	CFP	HP:0005423	Dysfunctional alternative complement pathway	-	OMIM:312060
5205	ATP8B1	HP:0025116	Fetal distress	-	OMIM:147480
5205	ATP8B1	HP:0001394	Cirrhosis	-	OMIM:211600
5205	ATP8B1	HP:0001394	Cirrhosis	2/2	OMIM:602347
5205	ATP8B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:243300
5205	ATP8B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:211600
5205	ATP8B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:602347
5205	ATP8B1	HP:0001337	Tremor	HP:0040284	ORPHA:69665
5205	ATP8B1	HP:0000006	Autosomal dominant inheritance	-	OMIM:147480
5205	ATP8B1	HP:0002643	Neonatal respiratory distress	HP:0040283	ORPHA:69665
5205	ATP8B1	HP:0002630	Fat malabsorption	-	OMIM:211600
5205	ATP8B1	HP:0012164	Asterixis	HP:0040284	ORPHA:69665
5205	ATP8B1	HP:0001408	Bile duct proliferation	1/2	OMIM:602347
5205	ATP8B1	HP:0001406	Intrahepatic cholestasis	-	OMIM:602347
5205	ATP8B1	HP:0001406	Intrahepatic cholestasis	-	OMIM:147480
5205	ATP8B1	HP:0002748	Rickets	25/33	OMIM:211600
5205	ATP8B1	HP:0031248	Palmar pruritus	HP:0040283	ORPHA:69665
5205	ATP8B1	HP:0002024	Malabsorption	-	OMIM:602347
5205	ATP8B1	HP:0002027	Abdominal pain	HP:0040284	ORPHA:69665
5205	ATP8B1	HP:0002014	Diarrhea	2/2	OMIM:602347
5205	ATP8B1	HP:0002014	Diarrhea	-	OMIM:211600
5205	ATP8B1	HP:0030900	Pruritus on foot	HP:0040283	ORPHA:69665
5205	ATP8B1	HP:0033196	Portal inflammation	1/2	OMIM:602347
5205	ATP8B1	HP:0030948	Elevated gamma-glutamyltransferase level	2/2	OMIM:602347
5205	ATP8B1	HP:0003593	Infantile onset	2/2	OMIM:602347
5205	ATP8B1	HP:0003593	Infantile onset	32/33	OMIM:211600
5205	ATP8B1	HP:0002240	Hepatomegaly	2/2	OMIM:602347
5205	ATP8B1	HP:0002240	Hepatomegaly	32/33	OMIM:211600
5205	ATP8B1	HP:0002240	Hepatomegaly	-	OMIM:243300
5205	ATP8B1	HP:0200148	Abnormal liver function tests during pregnancy	-	OMIM:147480
5205	ATP8B1	HP:0200150	Increased serum bile acid concentration during pregnancy	-	OMIM:147480
5205	ATP8B1	HP:0100785	Insomnia	HP:0040282	ORPHA:69665
5205	ATP8B1	HP:0001046	Intermittent jaundice	-	OMIM:243300
5205	ATP8B1	HP:0100602	Preeclampsia	HP:0040283	ORPHA:69665
5205	ATP8B1	HP:0025031	Abnormality of the digestive system	HP:0040282	ORPHA:69665
5205	ATP8B1	HP:0001081	Cholelithiasis	10/31	OMIM:211600
5205	ATP8B1	HP:0001082	Cholecystitis	HP:0040284	ORPHA:69665
5205	ATP8B1	HP:0003621	Juvenile onset	1/33	OMIM:211600
5205	ATP8B1	HP:0012689	Abnormal pineal melatonin secretion	HP:0040283	ORPHA:69665
5205	ATP8B1	HP:0004322	Short stature	31/33	OMIM:211600
5205	ATP8B1	HP:0000716	Depression	HP:0040283	ORPHA:69665
5205	ATP8B1	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040283	ORPHA:69665
5205	ATP8B1	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:69665
5205	ATP8B1	HP:0030828	Wheezing	10/31	OMIM:211600
5205	ATP8B1	HP:0000989	Pruritus	32/33	OMIM:211600
5205	ATP8B1	HP:0000989	Pruritus	2/2	OMIM:602347
5205	ATP8B1	HP:0000989	Pruritus	HP:0040281	ORPHA:69665
5205	ATP8B1	HP:0000989	Pruritus	-	OMIM:243300
5205	ATP8B1	HP:0000989	Pruritus	-	OMIM:147480
5205	ATP8B1	HP:0000988	Skin rash	-	ORPHA:69665
5205	ATP8B1	HP:0000952	Jaundice	2/2	OMIM:602347
5205	ATP8B1	HP:0000952	Jaundice	HP:0040284	ORPHA:69665
5205	ATP8B1	HP:0000952	Jaundice	33/33	OMIM:211600
5205	ATP8B1	HP:0000952	Jaundice	-	OMIM:147480
5205	ATP8B1	HP:0000938	Osteopenia	2/33	OMIM:211600
5205	ATP8B1	HP:0012202	Increased serum bile acid concentration	-	OMIM:243300
5205	ATP8B1	HP:0012202	Increased serum bile acid concentration	1/2	OMIM:602347
5205	ATP8B1	HP:0012202	Increased serum bile acid concentration	HP:0040281	ORPHA:69665
5205	ATP8B1	HP:0001541	Ascites	1/2	OMIM:602347
5205	ATP8B1	HP:0001541	Ascites	HP:0040284	ORPHA:69665
5205	ATP8B1	HP:0001508	Failure to thrive	-	OMIM:211600
5205	ATP8B1	HP:0001518	Small for gestational age	HP:0040284	ORPHA:69665
5205	ATP8B1	HP:0006580	Portal fibrosis	2/2	OMIM:602347
5205	ATP8B1	HP:0006575	Intrahepatic cholestasis with episodic jaundice	-	OMIM:243300
5205	ATP8B1	HP:0006575	Intrahepatic cholestasis with episodic jaundice	-	OMIM:211600
5205	ATP8B1	HP:0002910	Elevated circulating hepatic transaminase concentration	2/2	OMIM:602347
5205	ATP8B1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:69665
5205	ATP8B1	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:147480
5205	ATP8B1	HP:0002908	Conjugated hyperbilirubinemia	33/33	OMIM:211600
5205	ATP8B1	HP:0002908	Conjugated hyperbilirubinemia	-	OMIM:243300
5205	ATP8B1	HP:0002904	Hyperbilirubinemia	HP:0040283	ORPHA:69665
5205	ATP8B1	HP:0000365	Hearing impairment	-	OMIM:243300
5205	ATP8B1	HP:0002960	Autoimmunity	-	ORPHA:69665
5205	ATP8B1	HP:0001622	Premature birth	HP:0040284	ORPHA:69665
5205	ATP8B1	HP:0001622	Premature birth	-	OMIM:147480
5205	ATP8B1	HP:0001733	Pancreatitis	-	OMIM:243300
5205	ATP8B1	HP:0001732	Abnormality of the pancreas	HP:0040284	ORPHA:69665
5205	ATP8B1	HP:0011117	Abnormal circulating interleukin concentration	HP:0040283	ORPHA:69665
5205	ATP8B1	HP:0012420	Meconium stained amniotic fluid	HP:0040283	ORPHA:69665
5205	ATP8B1	HP:0001744	Splenomegaly	2/2	OMIM:602347
5205	ATP8B1	HP:0001744	Splenomegaly	-	OMIM:211600
5205	ATP8B1	HP:0000421	Epistaxis	17/31	OMIM:211600
5213	PFKM	HP:0002486	Myotonia	HP:0040281	ORPHA:371
5213	PFKM	HP:0003738	Exercise-induced myalgia	1/3	OMIM:232800
5213	PFKM	HP:0003710	Exercise-induced muscle cramps	2/3	OMIM:232800
5213	PFKM	HP:0001324	Muscle weakness	HP:0040282	ORPHA:371
5213	PFKM	HP:0001324	Muscle weakness	-	OMIM:232800
5213	PFKM	HP:0000007	Autosomal recessive inheritance	-	OMIM:232800
5213	PFKM	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/3	OMIM:232800
5213	PFKM	HP:0008967	Exercise-induced muscle stiffness	1/1	OMIM:232800
5213	PFKM	HP:0003326	Myalgia	2/3	OMIM:232800
5213	PFKM	HP:0003388	Easy fatigability	1/1	OMIM:232800
5213	PFKM	HP:0002149	Hyperuricemia	HP:0040282	ORPHA:371
5213	PFKM	HP:0002149	Hyperuricemia	-	OMIM:232800
5213	PFKM	HP:0003573	Increased total bilirubin	3/3	OMIM:232800
5213	PFKM	HP:0003546	Exercise intolerance	3/4	OMIM:232800
5213	PFKM	HP:0003557	Increased variability in muscle fiber diameter	1/3	OMIM:232800
5213	PFKM	HP:6000359	Reduced muscle 6-phosphofructokinase activity	3/3	OMIM:232800
5213	PFKM	HP:0008305	Exercise-induced myoglobinuria	1/1	OMIM:232800
5213	PFKM	HP:0001081	Cholelithiasis	-	OMIM:232800
5213	PFKM	HP:0003621	Juvenile onset	1/3	OMIM:232800
5213	PFKM	HP:0001923	Reticulocytosis	2/3	OMIM:232800
5213	PFKM	HP:0001903	Anemia	HP:0040281	ORPHA:371
5213	PFKM	HP:0009051	Increased muscle glycogen content	2/2	OMIM:232800
5213	PFKM	HP:0009051	Increased muscle glycogen content	HP:0040281	ORPHA:371
5213	PFKM	HP:0009020	Exercise-induced muscle fatigue	1/1	OMIM:232800
5213	PFKM	HP:0001997	Gout	-	OMIM:232800
5213	PFKM	HP:0011463	Childhood onset	3/4	OMIM:232800
5213	PFKM	HP:0000790	Hematuria	1/3	OMIM:232800
5213	PFKM	HP:0003236	Elevated circulating creatine kinase concentration	3/3	OMIM:232800
5213	PFKM	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:371
5213	PFKM	HP:0000952	Jaundice	2/3	OMIM:232800
5213	PFKM	HP:0030271	Reduced erythrocyte 2,3-diphosphoglycerate concentration	-	OMIM:232800
5213	PFKM	HP:0012544	Elevated circulating aldolase concentration	1/3	OMIM:232800
5213	PFKM	HP:0001878	Hemolytic anemia	-	OMIM:232800
5216	PFN1	HP:0002463	Language impairment	HP:0040283	ORPHA:803
5216	PFN1	HP:0001260	Dysarthria	-	OMIM:614808
5216	PFN1	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
5216	PFN1	HP:0001257	Spasticity	-	OMIM:614808
5216	PFN1	HP:0001257	Spasticity	HP:0040282	ORPHA:803
5216	PFN1	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
5216	PFN1	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
5216	PFN1	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:614808
5216	PFN1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
5216	PFN1	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
5216	PFN1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
5216	PFN1	HP:0001324	Muscle weakness	-	OMIM:614808
5216	PFN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614808
5216	PFN1	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
5216	PFN1	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
5216	PFN1	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
5216	PFN1	HP:0002015	Dysphagia	-	OMIM:614808
5216	PFN1	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
5216	PFN1	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
5216	PFN1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
5216	PFN1	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
5216	PFN1	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
5216	PFN1	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
5216	PFN1	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
5216	PFN1	HP:0003470	Paralysis	HP:0040282	ORPHA:803
5216	PFN1	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
5216	PFN1	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
5216	PFN1	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
5216	PFN1	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
5216	PFN1	HP:0002380	Fasciculations	-	OMIM:614808
5216	PFN1	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
5216	PFN1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
5216	PFN1	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
5216	PFN1	HP:0002307	Drooling	HP:0040282	ORPHA:803
5216	PFN1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
5216	PFN1	HP:0004326	Cachexia	HP:0040283	ORPHA:803
5216	PFN1	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
5216	PFN1	HP:0000739	Anxiety	HP:0040282	ORPHA:803
5216	PFN1	HP:0000716	Depression	HP:0040282	ORPHA:803
5216	PFN1	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
5216	PFN1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
5216	PFN1	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
5216	PFN1	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
5216	PFN1	HP:0003202	Skeletal muscle atrophy	-	OMIM:614808
5216	PFN1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
5216	PFN1	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
5216	PFN1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
5216	PFN1	HP:0012378	Fatigue	HP:0040282	ORPHA:803
5216	PFN1	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
5216	PFN1	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
5216	PFN1	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
5216	PFN1	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
5216	PFN1	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
5216	PFN1	HP:0001824	Weight loss	HP:0040282	ORPHA:803
5216	PFN1	HP:0012531	Pain	HP:0040282	ORPHA:803
5224	PGAM2	HP:0003738	Exercise-induced myalgia	-	OMIM:261670
5224	PGAM2	HP:0003710	Exercise-induced muscle cramps	-	OMIM:261670
5224	PGAM2	HP:0000083	Renal insufficiency	-	OMIM:261670
5224	PGAM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:261670
5224	PGAM2	HP:0003546	Exercise intolerance	-	OMIM:261670
5224	PGAM2	HP:0003198	Myopathy	-	OMIM:261670
5224	PGAM2	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:261670
5224	PGAM2	HP:0003201	Rhabdomyolysis	-	OMIM:261670
5224	PGAM2	HP:0002913	Myoglobinuria	-	OMIM:261670
5230	PGK1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5230	PGK1	HP:0003738	Exercise-induced myalgia	HP:0040282	ORPHA:713
5230	PGK1	HP:0003710	Exercise-induced muscle cramps	1/1	OMIM:300653
5230	PGK1	HP:0001250	Seizure	-	OMIM:300653
5230	PGK1	HP:0001251	Ataxia	HP:0040282	ORPHA:713
5230	PGK1	HP:0001251	Ataxia	-	OMIM:300653
5230	PGK1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:713
5230	PGK1	HP:0001249	Intellectual disability	1/2	OMIM:300653
5230	PGK1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:713
5230	PGK1	HP:0001263	Global developmental delay	0/1	OMIM:300653
5230	PGK1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:713
5230	PGK1	HP:0000083	Renal insufficiency	HP:0040283	OMIM:300653
5230	PGK1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:713
5230	PGK1	HP:0001324	Muscle weakness	1/1	OMIM:300653
5230	PGK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5230	PGK1	HP:0001337	Tremor	HP:0040282	ORPHA:713
5230	PGK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5230	PGK1	HP:0012132	Erythroid hyperplasia	1/1	OMIM:300653
5230	PGK1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5230	PGK1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5230	PGK1	HP:0001419	X-linked recessive inheritance	-	OMIM:300653
5230	PGK1	HP:0003394	Muscle spasm	HP:0040282	ORPHA:713
5230	PGK1	HP:0002076	Migraine	HP:0040282	ORPHA:713
5230	PGK1	HP:0002076	Migraine	-	OMIM:300653
5230	PGK1	HP:0003546	Exercise intolerance	-	OMIM:300653
5230	PGK1	HP:0008305	Exercise-induced myoglobinuria	-	OMIM:300653
5230	PGK1	HP:0020062	Decreased hemoglobin concentration	HP:0040282	ORPHA:713
5230	PGK1	HP:0003621	Juvenile onset	8/19	OMIM:180100
5230	PGK1	HP:0003621	Juvenile onset	1/1	OMIM:300653
5230	PGK1	HP:0000618	Blindness	HP:0040284	ORPHA:713
5230	PGK1	HP:0001923	Reticulocytosis	-	OMIM:300653
5230	PGK1	HP:0001923	Reticulocytosis	HP:0040282	ORPHA:713
5230	PGK1	HP:0009020	Exercise-induced muscle fatigue	HP:0040282	ORPHA:713
5230	PGK1	HP:0000662	Nyctalopia	26/28	OMIM:180100
5230	PGK1	HP:0012638	Abnormal nervous system physiology	HP:0040282	ORPHA:713
5230	PGK1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:713
5230	PGK1	HP:0000750	Delayed speech and language development	-	OMIM:300653
5230	PGK1	HP:0000712	Emotional lability	-	OMIM:300653
5230	PGK1	HP:0011463	Childhood onset	3/19	OMIM:180100
5230	PGK1	HP:0011462	Young adult onset	8/19	OMIM:180100
5230	PGK1	HP:0003198	Myopathy	HP:0040282	ORPHA:713
5230	PGK1	HP:0003198	Myopathy	-	OMIM:300653
5230	PGK1	HP:0003201	Rhabdomyolysis	-	OMIM:300653
5230	PGK1	HP:0003201	Rhabdomyolysis	HP:0040282	ORPHA:713
5230	PGK1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5230	PGK1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5230	PGK1	HP:0002913	Myoglobinuria	HP:0040282	ORPHA:713
5230	PGK1	HP:0002904	Hyperbilirubinemia	HP:0040282	ORPHA:713
5230	PGK1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5230	PGK1	HP:0000575	Scotoma	5/18	OMIM:180100
5230	PGK1	HP:0000556	Retinal dystrophy	HP:0040284	ORPHA:713
5230	PGK1	HP:0000556	Retinal dystrophy	HP:0040283	OMIM:300653
5230	PGK1	HP:0000572	Visual loss	HP:0040283	OMIM:300653
5230	PGK1	HP:0001878	Hemolytic anemia	HP:0040282	ORPHA:713
5230	PGK1	HP:0001878	Hemolytic anemia	1/1	OMIM:300653
5230	PGK1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5230	PGK1	HP:0000545	Myopia	-	OMIM:180100
5236	PGM1	HP:0001270	Motor delay	3/11	OMIM:614921
5236	PGM1	HP:0001252	Hypotonia	3/11	OMIM:614921
5236	PGM1	HP:0001263	Global developmental delay	1/11	OMIM:614921
5236	PGM1	HP:0001397	Hepatic steatosis	9/30	OMIM:614921
5236	PGM1	HP:0001324	Muscle weakness	2/19	OMIM:614921
5236	PGM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614921
5236	PGM1	HP:0000193	Bifid uvula	17/30	OMIM:614921
5236	PGM1	HP:0000175	Cleft palate	25/32	OMIM:614921
5236	PGM1	HP:0012115	Hepatitis	2/11	OMIM:614921
5236	PGM1	HP:0000126	Hydronephrosis	1/11	OMIM:614921
5236	PGM1	HP:0001406	Intrahepatic cholestasis	2/19	OMIM:614921
5236	PGM1	HP:0002028	Chronic diarrhea	2/11	OMIM:614921
5236	PGM1	HP:0002013	Vomiting	1/11	OMIM:614921
5236	PGM1	HP:0002094	Dyspnea	1/2	OMIM:614921
5236	PGM1	HP:0002092	Pulmonary arterial hypertension	2/11	OMIM:614921
5236	PGM1	HP:0002047	Malignant hyperthermia	2/19	OMIM:614921
5236	PGM1	HP:0008151	Prolonged prothrombin time	4/10	OMIM:614921
5236	PGM1	HP:0002240	Hepatomegaly	2/11	OMIM:614921
5236	PGM1	HP:0003546	Exercise intolerance	9/30	OMIM:614921
5236	PGM1	HP:0200123	Chronic hepatitis	1/2	OMIM:614921
5236	PGM1	HP:0003645	Prolonged partial thromboplastin time	5/10	OMIM:614921
5236	PGM1	HP:0001976	Reduced antithrombin III activity	2/13	OMIM:614921
5236	PGM1	HP:0001943	Hypoglycemia	21/21	OMIM:614921
5236	PGM1	HP:0004322	Short stature	15/19	OMIM:614921
5236	PGM1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	11/11	OMIM:614921
5236	PGM1	HP:0031964	Elevated circulating alanine aminotransferase concentration	11/11	OMIM:614921
5236	PGM1	HP:0003160	Abnormal isoelectric focusing of serum transferrin	-	OMIM:614921
5236	PGM1	HP:0000823	Delayed puberty	2/19	OMIM:614921
5236	PGM1	HP:0003236	Elevated circulating creatine kinase concentration	19/32	OMIM:614921
5236	PGM1	HP:0003201	Rhabdomyolysis	7/30	OMIM:614921
5236	PGM1	HP:0000201	Pierre-Robin sequence	16/32	OMIM:614921
5236	PGM1	HP:0001510	Growth delay	10/10	OMIM:614921
5236	PGM1	HP:0012378	Fatigue	3/13	OMIM:614921
5236	PGM1	HP:0006568	Increased hepatic glycogen content	2/19	OMIM:614921
5236	PGM1	HP:0002910	Elevated circulating hepatic transaminase concentration	21/21	OMIM:614921
5236	PGM1	HP:0001680	Coarctation of aorta	1/11	OMIM:614921
5236	PGM1	HP:0000347	Micrognathia	1/11	OMIM:614921
5236	PGM1	HP:0001649	Tachycardia	1/2	OMIM:614921
5236	PGM1	HP:0001645	Sudden cardiac death	2/19	OMIM:614921
5236	PGM1	HP:0001644	Dilated cardiomyopathy	8/21	OMIM:614921
5236	PGM1	HP:0001629	Ventricular septal defect	2/11	OMIM:614921
5236	PGM1	HP:0001640	Cardiomegaly	2/11	OMIM:614921
5236	PGM1	HP:0031628	Aborted sudden cardiac death	2/19	OMIM:614921
5236	PGM1	HP:0005305	Cerebral venous thrombosis	1/2	OMIM:614921
5236	PGM1	HP:0000403	Recurrent otitis media	1/11	OMIM:614921
5236	PGM1	HP:0030353	Decreased serum insulin-like growth factor 1	3/9	OMIM:614921
5236	PGM1	HP:0000592	Blue sclerae	2/11	OMIM:614921
5238	PGM3	HP:0001156	Brachydactyly	HP:0040284	ORPHA:443811
5238	PGM3	HP:0008587	Mild neurosensory hearing impairment	HP:0040283	ORPHA:443811
5238	PGM3	HP:0032218	Decreased proportion of CD4-positive T cells	HP:0040281	ORPHA:443811
5238	PGM3	HP:0001290	Generalized hypotonia	-	OMIM:615816
5238	PGM3	HP:0100806	Sepsis	HP:0040282	ORPHA:443811
5238	PGM3	HP:0001250	Seizure	HP:0040284	ORPHA:443811
5238	PGM3	HP:0001252	Hypotonia	3/7	OMIM:615816
5238	PGM3	HP:0001251	Ataxia	HP:0040282	ORPHA:443811
5238	PGM3	HP:0001251	Ataxia	7/8	OMIM:615816
5238	PGM3	HP:0001249	Intellectual disability	9/15	OMIM:615816
5238	PGM3	HP:0001265	Hyporeflexia	-	OMIM:615816
5238	PGM3	HP:0001260	Dysarthria	HP:0040283	ORPHA:443811
5238	PGM3	HP:0001260	Dysarthria	4/8	OMIM:615816
5238	PGM3	HP:0001263	Global developmental delay	6/7	OMIM:615816
5238	PGM3	HP:0410323	Drug allergy	3/8	OMIM:615816
5238	PGM3	HP:0001382	Joint hypermobility	3/9	OMIM:615816
5238	PGM3	HP:0007499	Recurrent staphylococcal infections	5/8	OMIM:615816
5238	PGM3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615816
5238	PGM3	HP:0002665	Lymphoma	HP:0040283	ORPHA:443811
5238	PGM3	HP:0001336	Myoclonus	HP:0040283	ORPHA:443811
5238	PGM3	HP:0001336	Myoclonus	4/8	OMIM:615816
5238	PGM3	HP:0002650	Scoliosis	5/17	OMIM:615816
5238	PGM3	HP:0002616	Aortic root aneurysm	1/8	OMIM:615816
5238	PGM3	HP:0012189	Hodgkin lymphoma	2/8	OMIM:615816
5238	PGM3	HP:0500093	Food allergy	5/8	OMIM:615816
5238	PGM3	HP:0031292	Cutaneous abscess	HP:0040281	ORPHA:443811
5238	PGM3	HP:0002754	Osteomyelitis	HP:0040284	ORPHA:443811
5238	PGM3	HP:0002719	Recurrent infections	HP:0040281	ORPHA:443811
5238	PGM3	HP:0002718	Recurrent bacterial infections	HP:0040282	ORPHA:443811
5238	PGM3	HP:0002728	Chronic mucocutaneous candidiasis	4/9	OMIM:615816
5238	PGM3	HP:0002726	Recurrent Staphylococcus aureus infections	8/9	OMIM:615816
5238	PGM3	HP:0002721	Immunodeficiency	-	OMIM:615816
5238	PGM3	HP:0002020	Gastroesophageal reflux	HP:0040284	ORPHA:443811
5238	PGM3	HP:0002099	Asthma	HP:0040283	ORPHA:443811
5238	PGM3	HP:0002099	Asthma	2/8	OMIM:615816
5238	PGM3	HP:0002043	Esophageal stricture	2/8	OMIM:615816
5238	PGM3	HP:0003474	Somatic sensory dysfunction	-	OMIM:615816
5238	PGM3	HP:0004789	Lactose intolerance	HP:0040283	ORPHA:443811
5238	PGM3	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:443811
5238	PGM3	HP:0002110	Bronchiectasis	11/17	OMIM:615816
5238	PGM3	HP:0003496	Increased circulating IgM level	3/9	OMIM:615816
5238	PGM3	HP:0200101	Decreased/absent ankle reflexes	HP:0040283	ORPHA:443811
5238	PGM3	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:443811
5238	PGM3	HP:0002205	Recurrent respiratory infections	9/9	OMIM:615816
5238	PGM3	HP:0020072	Persistent EBV viremia	3/8	OMIM:615816
5238	PGM3	HP:0007083	Hyperactive patellar reflex	HP:0040283	ORPHA:443811
5238	PGM3	HP:0001047	Atopic dermatitis	HP:0040282	ORPHA:443811
5238	PGM3	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:443811
5238	PGM3	HP:0200029	Vasculitis in the skin	HP:0040282	ORPHA:443811
5238	PGM3	HP:0200029	Vasculitis in the skin	-	OMIM:615816
5238	PGM3	HP:0200042	Skin ulcer	HP:0040283	ORPHA:443811
5238	PGM3	HP:0100633	Esophagitis	HP:0040284	ORPHA:443811
5238	PGM3	HP:0010783	Erythema	2/8	OMIM:615816
5238	PGM3	HP:0032163	Molluscum contagiosum	1/8	OMIM:615816
5238	PGM3	HP:0032170	Severe varicella zoster infection	1/9	OMIM:615816
5238	PGM3	HP:0005528	Bone marrow hypocellularity	HP:0040283	ORPHA:443811
5238	PGM3	HP:0001904	Autoimmune neutropenia	HP:0040283	ORPHA:443811
5238	PGM3	HP:0011343	Moderate global developmental delay	HP:0040282	ORPHA:443811
5238	PGM3	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:443811
5238	PGM3	HP:0004322	Short stature	HP:0040284	ORPHA:443811
5238	PGM3	HP:0011400	Abnormal CNS myelination	4/8	OMIM:615816
5238	PGM3	HP:0000793	Membranoproliferative glomerulonephritis	HP:0040283	ORPHA:443811
5238	PGM3	HP:0000793	Membranoproliferative glomerulonephritis	2/8	OMIM:615816
5238	PGM3	HP:0004430	Severe combined immunodeficiency	HP:0040283	ORPHA:443811
5238	PGM3	HP:0004429	Recurrent viral infections	HP:0040282	ORPHA:443811
5238	PGM3	HP:0003193	Allergic rhinitis	HP:0040283	ORPHA:443811
5238	PGM3	HP:0003193	Allergic rhinitis	5/8	OMIM:615816
5238	PGM3	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:443811
5238	PGM3	HP:0003237	Increased circulating IgG concentration	HP:0040282	ORPHA:443811
5238	PGM3	HP:0003237	Increased circulating IgG concentration	3/9	OMIM:615816
5238	PGM3	HP:0003212	Increased circulating IgE concentration	HP:0040282	ORPHA:443811
5238	PGM3	HP:0003212	Increased circulating IgE concentration	9/9	OMIM:615816
5238	PGM3	HP:0040218	Reduced total natural killer cell count	HP:0040283	ORPHA:443811
5238	PGM3	HP:0045080	Decreased CD3+ T cell proportion	HP:0040282	ORPHA:443811
5238	PGM3	HP:0003261	Increased circulating IgA concentration	HP:0040283	ORPHA:443811
5238	PGM3	HP:0000964	Eczematoid dermatitis	HP:0040281	ORPHA:443811
5238	PGM3	HP:0000964	Eczematoid dermatitis	7/9	OMIM:615816
5238	PGM3	HP:0045025	Narrow palpebral fissure	HP:0040283	ORPHA:443811
5238	PGM3	HP:0040148	Cortical myoclonus	HP:0040283	ORPHA:443811
5238	PGM3	HP:0040148	Cortical myoclonus	-	OMIM:615816
5238	PGM3	HP:0031402	Reduced antigen-specific T cell proliferation	HP:0040282	ORPHA:443811
5238	PGM3	HP:0031393	Abnormal CD8+ T cell proportion	HP:0040283	ORPHA:443811
5238	PGM3	HP:0031394	Abnormal CD4:CD8 ratio	HP:0040283	ORPHA:443811
5238	PGM3	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:443811
5238	PGM3	HP:0000218	High palate	HP:0040283	ORPHA:443811
5238	PGM3	HP:0000218	High palate	-	OMIM:615816
5238	PGM3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:443811
5238	PGM3	HP:0001508	Failure to thrive	7/9	OMIM:615816
5238	PGM3	HP:0002841	Recurrent fungal infections	HP:0040283	ORPHA:443811
5238	PGM3	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:443811
5238	PGM3	HP:0006532	Recurrent pneumonia	HP:0040282	ORPHA:443811
5238	PGM3	HP:0002923	Rheumatoid factor positive	HP:0040282	ORPHA:443811
5238	PGM3	HP:0002923	Rheumatoid factor positive	5/6	OMIM:615816
5238	PGM3	HP:0025615	Abscess	7/9	OMIM:615816
5238	PGM3	HP:0002960	Autoimmunity	HP:0040281	ORPHA:443811
5238	PGM3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:443811
5238	PGM3	HP:0000407	Sensorineural hearing impairment	4/8	OMIM:615816
5238	PGM3	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:443811
5238	PGM3	HP:0000405	Conductive hearing impairment	-	OMIM:615816
5238	PGM3	HP:0011109	Chronic sinusitis	HP:0040283	ORPHA:443811
5238	PGM3	HP:0005403	Decreased total T cell count	HP:0040282	ORPHA:443811
5238	PGM3	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:443811
5238	PGM3	HP:0001888	Decreased total lymphocyte count	2/9	OMIM:615816
5238	PGM3	HP:0001880	Increased total eosinophil count	HP:0040283	ORPHA:443811
5238	PGM3	HP:0001880	Increased total eosinophil count	9/9	OMIM:615816
5238	PGM3	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:443811
5238	PGM3	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:443811
5238	PGM3	HP:0001878	Hemolytic anemia	1/8	OMIM:615816
5238	PGM3	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:443811
5238	PGM3	HP:0001875	Decreased total neutrophil count	2/8	OMIM:615816
5241	PGR	HP:0000007	Autosomal recessive inheritance	-	OMIM:264080
5241	PGR	HP:0008222	Female infertility	-	OMIM:264080
5241	PGR	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:264080
5243	ABCB1	HP:0002037	Inflammation of the large intestine	-	OMIM:612244
5244	ABCB4	HP:0025116	Fetal distress	-	OMIM:614972
5244	ABCB4	HP:0001396	Cholestasis	6/6	OMIM:600803
5244	ABCB4	HP:0001395	Hepatic fibrosis	-	OMIM:600803
5244	ABCB4	HP:0001394	Cirrhosis	2/2	OMIM:602347
5244	ABCB4	HP:0000007	Autosomal recessive inheritance	-	OMIM:600803
5244	ABCB4	HP:0000007	Autosomal recessive inheritance	-	OMIM:602347
5244	ABCB4	HP:0000007	Autosomal recessive inheritance	HP:0040283	OMIM:614972
5244	ABCB4	HP:0001337	Tremor	HP:0040284	ORPHA:69665
5244	ABCB4	HP:0000006	Autosomal dominant inheritance	-	OMIM:600803
5244	ABCB4	HP:0000006	Autosomal dominant inheritance	-	OMIM:614972
5244	ABCB4	HP:0002643	Neonatal respiratory distress	HP:0040283	ORPHA:69665
5244	ABCB4	HP:0002613	Biliary cirrhosis	HP:0040284	ORPHA:69663
5244	ABCB4	HP:0012164	Asterixis	HP:0040284	ORPHA:69665
5244	ABCB4	HP:0001408	Bile duct proliferation	1/2	OMIM:602347
5244	ABCB4	HP:0001408	Bile duct proliferation	3/3	OMIM:600803
5244	ABCB4	HP:0001406	Intrahepatic cholestasis	-	OMIM:602347
5244	ABCB4	HP:0001406	Intrahepatic cholestasis	HP:0040281	ORPHA:69663
5244	ABCB4	HP:0001406	Intrahepatic cholestasis	-	OMIM:614972
5244	ABCB4	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:69663
5244	ABCB4	HP:0031248	Palmar pruritus	HP:0040283	ORPHA:69665
5244	ABCB4	HP:0002024	Malabsorption	-	OMIM:602347
5244	ABCB4	HP:0002027	Abdominal pain	HP:0040284	ORPHA:69665
5244	ABCB4	HP:0030991	Sclerosing cholangitis	HP:0040284	ORPHA:69663
5244	ABCB4	HP:0002014	Diarrhea	2/2	OMIM:602347
5244	ABCB4	HP:0100523	Liver abscess	HP:0040284	ORPHA:69663
5244	ABCB4	HP:0030900	Pruritus on foot	HP:0040283	ORPHA:69665
5244	ABCB4	HP:0033196	Portal inflammation	1/2	OMIM:602347
5244	ABCB4	HP:0033196	Portal inflammation	3/3	OMIM:600803
5244	ABCB4	HP:0030948	Elevated gamma-glutamyltransferase level	2/2	OMIM:602347
5244	ABCB4	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040282	ORPHA:69663
5244	ABCB4	HP:0011848	Abdominal colic	HP:0040281	ORPHA:69663
5244	ABCB4	HP:0003593	Infantile onset	2/2	OMIM:602347
5244	ABCB4	HP:0002240	Hepatomegaly	2/2	OMIM:602347
5244	ABCB4	HP:0003581	Adult onset	6/6	OMIM:600803
5244	ABCB4	HP:0200148	Abnormal liver function tests during pregnancy	-	OMIM:614972
5244	ABCB4	HP:0200150	Increased serum bile acid concentration during pregnancy	-	OMIM:614972
5244	ABCB4	HP:0100785	Insomnia	HP:0040282	ORPHA:69665
5244	ABCB4	HP:0011980	Cholesterol gallstones	6/6	OMIM:600803
5244	ABCB4	HP:0100602	Preeclampsia	HP:0040283	ORPHA:69665
5244	ABCB4	HP:0025031	Abnormality of the digestive system	HP:0040282	ORPHA:69665
5244	ABCB4	HP:0001081	Cholelithiasis	HP:0040282	ORPHA:69663
5244	ABCB4	HP:0001081	Cholelithiasis	6/6	OMIM:600803
5244	ABCB4	HP:0001082	Cholecystitis	HP:0040283	ORPHA:69663
5244	ABCB4	HP:0001082	Cholecystitis	-	OMIM:600803
5244	ABCB4	HP:0001082	Cholecystitis	HP:0040284	ORPHA:69665
5244	ABCB4	HP:0012689	Abnormal pineal melatonin secretion	HP:0040283	ORPHA:69665
5244	ABCB4	HP:0000716	Depression	HP:0040283	ORPHA:69665
5244	ABCB4	HP:0003124	Hypercholesterolemia	HP:0040283	ORPHA:69663
5244	ABCB4	HP:0003155	Elevated circulating alkaline phosphatase concentration	-	OMIM:600803
5244	ABCB4	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040283	ORPHA:69665
5244	ABCB4	HP:0000819	Diabetes mellitus	HP:0040284	ORPHA:69663
5244	ABCB4	HP:0000822	Hypertension	HP:0040283	ORPHA:69663
5244	ABCB4	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:69665
5244	ABCB4	HP:0000989	Pruritus	-	OMIM:614972
5244	ABCB4	HP:0000989	Pruritus	2/2	OMIM:602347
5244	ABCB4	HP:0000989	Pruritus	HP:0040281	ORPHA:69665
5244	ABCB4	HP:0000988	Skin rash	-	ORPHA:69665
5244	ABCB4	HP:0000952	Jaundice	HP:0040283	OMIM:614972
5244	ABCB4	HP:0000952	Jaundice	2/2	OMIM:602347
5244	ABCB4	HP:0000952	Jaundice	HP:0040284	ORPHA:69665
5244	ABCB4	HP:0000952	Jaundice	HP:0040283	OMIM:600803
5244	ABCB4	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:69663
5244	ABCB4	HP:0012202	Increased serum bile acid concentration	1/2	OMIM:602347
5244	ABCB4	HP:0012202	Increased serum bile acid concentration	HP:0040281	ORPHA:69665
5244	ABCB4	HP:0025502	Overweight	HP:0040282	ORPHA:69663
5244	ABCB4	HP:0001541	Ascites	1/2	OMIM:602347
5244	ABCB4	HP:0001541	Ascites	HP:0040284	ORPHA:69665
5244	ABCB4	HP:0001518	Small for gestational age	HP:0040284	ORPHA:69665
5244	ABCB4	HP:0001513	Obesity	HP:0040283	ORPHA:69663
5244	ABCB4	HP:0006580	Portal fibrosis	2/2	OMIM:602347
5244	ABCB4	HP:0005230	Biliary tract obstruction	HP:0040283	ORPHA:69663
5244	ABCB4	HP:0002910	Elevated circulating hepatic transaminase concentration	2/2	OMIM:602347
5244	ABCB4	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:69663
5244	ABCB4	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:69665
5244	ABCB4	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:600803
5244	ABCB4	HP:0002904	Hyperbilirubinemia	HP:0040283	ORPHA:69665
5244	ABCB4	HP:0030151	Cholangitis	HP:0040283	ORPHA:69663
5244	ABCB4	HP:0030151	Cholangitis	-	OMIM:600803
5244	ABCB4	HP:0002960	Autoimmunity	-	ORPHA:69665
5244	ABCB4	HP:0001622	Premature birth	-	OMIM:614972
5244	ABCB4	HP:0001622	Premature birth	HP:0040284	ORPHA:69665
5244	ABCB4	HP:0001733	Pancreatitis	HP:0040283	ORPHA:69663
5244	ABCB4	HP:0001733	Pancreatitis	-	OMIM:600803
5244	ABCB4	HP:0001732	Abnormality of the pancreas	HP:0040284	ORPHA:69665
5244	ABCB4	HP:0011117	Abnormal circulating interleukin concentration	HP:0040283	ORPHA:69665
5244	ABCB4	HP:0012420	Meconium stained amniotic fluid	HP:0040283	ORPHA:69665
5244	ABCB4	HP:0001744	Splenomegaly	2/2	OMIM:602347
5245	PHB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
5245	PHB1	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
5245	PHB1	HP:0003002	Breast carcinoma	-	OMIM:114480
5250	SLC25A3	HP:0001252	Hypotonia	-	OMIM:610773
5250	SLC25A3	HP:0001252	Hypotonia	HP:0040281	ORPHA:91130
5250	SLC25A3	HP:0012087	Abnormal mitochondrial shape	-	OMIM:610773
5250	SLC25A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:610773
5250	SLC25A3	HP:0012103	Abnormality of the mitochondrion	HP:0040281	ORPHA:91130
5250	SLC25A3	HP:0002098	Respiratory distress	HP:0040283	ORPHA:91130
5250	SLC25A3	HP:0002093	Respiratory insufficiency	-	OMIM:610773
5250	SLC25A3	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:91130
5250	SLC25A3	HP:0009805	Low-output congestive heart failure	HP:0040282	ORPHA:91130
5250	SLC25A3	HP:0001942	Metabolic acidosis	HP:0040281	ORPHA:91130
5250	SLC25A3	HP:0001942	Metabolic acidosis	-	OMIM:610773
5250	SLC25A3	HP:0003198	Myopathy	HP:0040282	ORPHA:91130
5250	SLC25A3	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:91130
5250	SLC25A3	HP:0003128	Lactic acidosis	-	OMIM:610773
5250	SLC25A3	HP:0000961	Cyanosis	HP:0040282	ORPHA:91130
5250	SLC25A3	HP:0000961	Cyanosis	-	OMIM:610773
5250	SLC25A3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:91130
5250	SLC25A3	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:91130
5250	SLC25A3	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:610773
5251	PHEX	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5251	PHEX	HP:0001293	Cranial nerve compression	-	OMIM:131300
5251	PHEX	HP:0001252	Hypotonia	2/7	OMIM:615777
5251	PHEX	HP:0001249	Intellectual disability	5/7	OMIM:615777
5251	PHEX	HP:0001263	Global developmental delay	-	OMIM:615777
5251	PHEX	HP:0002515	Waddling gait	1/1	OMIM:307800
5251	PHEX	HP:0002515	Waddling gait	54/102	OMIM:131300
5251	PHEX	HP:0003856	Upper limb metaphyseal widening	HP:0040282	ORPHA:89936
5251	PHEX	HP:0025369	Thick growth plates	HP:0040283	ORPHA:89936
5251	PHEX	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:89936
5251	PHEX	HP:0001369	Arthritis	HP:0040283	ORPHA:89936
5251	PHEX	HP:0025335	Delayed ability to stand	HP:0040282	ORPHA:89936
5251	PHEX	HP:0001382	Joint hypermobility	-	OMIM:615777
5251	PHEX	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:89936
5251	PHEX	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5251	PHEX	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5251	PHEX	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5251	PHEX	HP:0001324	Muscle weakness	40/96	OMIM:131300
5251	PHEX	HP:0001324	Muscle weakness	HP:0040283	ORPHA:89936
5251	PHEX	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5251	PHEX	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5251	PHEX	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5251	PHEX	HP:0002653	Bone pain	-	OMIM:307800
5251	PHEX	HP:0002653	Bone pain	HP:0040282	ORPHA:89936
5251	PHEX	HP:0002650	Scoliosis	12/14	OMIM:131300
5251	PHEX	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5251	PHEX	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:307800
5251	PHEX	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5251	PHEX	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5251	PHEX	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5251	PHEX	HP:0000175	Cleft palate	2/7	OMIM:615777
5251	PHEX	HP:0006285	Enamel hypomineralization	-	OMIM:307800
5251	PHEX	HP:0000121	Nephrocalcinosis	HP:0040282	ORPHA:89936
5251	PHEX	HP:0000117	Renal phosphate wasting	-	OMIM:307800
5251	PHEX	HP:0000117	Renal phosphate wasting	HP:0040281	ORPHA:89936
5251	PHEX	HP:0000124	Renal tubular dysfunction	-	OMIM:307800
5251	PHEX	HP:0002758	Osteoarthritis	-	OMIM:307800
5251	PHEX	HP:0001423	X-linked dominant inheritance	-	OMIM:307800
5251	PHEX	HP:0001433	Hepatosplenomegaly	1/1	OMIM:307800
5251	PHEX	HP:0002748	Rickets	HP:0040281	ORPHA:89936
5251	PHEX	HP:0002748	Rickets	2/2	OMIM:307800
5251	PHEX	HP:0002749	Osteomalacia	-	OMIM:307800
5251	PHEX	HP:0002015	Dysphagia	HP:0040283	ORPHA:89936
5251	PHEX	HP:0002007	Frontal bossing	HP:0040283	ORPHA:89936
5251	PHEX	HP:0002007	Frontal bossing	1/1	OMIM:307800
5251	PHEX	HP:0003388	Easy fatigability	36/76	OMIM:131300
5251	PHEX	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5251	PHEX	HP:0008117	Shortening of the talar neck	-	OMIM:307800
5251	PHEX	HP:0008117	Shortening of the talar neck	HP:0040282	ORPHA:89936
5251	PHEX	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:89936
5251	PHEX	HP:0008144	Flattening of the talar dome	-	OMIM:307800
5251	PHEX	HP:0008144	Flattening of the talar dome	HP:0040282	ORPHA:89936
5251	PHEX	HP:0002148	Hypophosphatemia	HP:0040281	ORPHA:89936
5251	PHEX	HP:0002148	Hypophosphatemia	2/2	OMIM:307800
5251	PHEX	HP:0003416	Spinal canal stenosis	-	OMIM:307800
5251	PHEX	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:89936
5251	PHEX	HP:0002194	Delayed gross motor development	1/1	OMIM:307800
5251	PHEX	HP:0003498	Disproportionate short stature	HP:0040282	ORPHA:89936
5251	PHEX	HP:0002176	Spinal cord compression	-	OMIM:307800
5251	PHEX	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:89936
5251	PHEX	HP:0010502	Fibular bowing	-	OMIM:307800
5251	PHEX	HP:0003593	Infantile onset	1/1	OMIM:307800
5251	PHEX	HP:0003510	Severe short stature	7/7	OMIM:615777
5251	PHEX	HP:0007099	Chiari type I malformation	HP:0040283	ORPHA:89936
5251	PHEX	HP:6000407	Elevated circulating fibroblast growth factor 23 concentration	HP:0040283	ORPHA:89936
5251	PHEX	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:89936
5251	PHEX	HP:0002315	Headache	-	OMIM:131300
5251	PHEX	HP:0004976	Knee dislocation	6/7	OMIM:615777
5251	PHEX	HP:0100658	Cellulitis	HP:0040284	ORPHA:89936
5251	PHEX	HP:0009803	Short phalanx of finger	-	OMIM:615777
5251	PHEX	HP:0100686	Enthesitis	HP:0040283	ORPHA:89936
5251	PHEX	HP:0008442	Vertebral hyperostosis	HP:0040283	ORPHA:89936
5251	PHEX	HP:0009763	Limb pain	63/92	OMIM:131300
5251	PHEX	HP:0003621	Juvenile onset	-	OMIM:131300
5251	PHEX	HP:0004912	Hypophosphatemic rickets	1/1	OMIM:307800
5251	PHEX	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5251	PHEX	HP:0004273	Cupped metaphyses of hand bones	1/1	OMIM:307800
5251	PHEX	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5251	PHEX	HP:6001056	Out-toeing	-	OMIM:131300
5251	PHEX	HP:0000651	Diplopia	-	OMIM:131300
5251	PHEX	HP:0001956	Truncal obesity	2/7	OMIM:615777
5251	PHEX	HP:0001903	Anemia	HP:0040283	OMIM:131300
5251	PHEX	HP:0010049	Short metacarpal	-	OMIM:615777
5251	PHEX	HP:0000678	Dental crowding	-	OMIM:615777
5251	PHEX	HP:0000694	Odontodysplasia	HP:0040282	ORPHA:89936
5251	PHEX	HP:0000670	Carious teeth	-	OMIM:131300
5251	PHEX	HP:0011304	Broad thumb	2/7	OMIM:615777
5251	PHEX	HP:0000668	Hypodontia	-	OMIM:615777
5251	PHEX	HP:0000664	Synophrys	-	OMIM:615777
5251	PHEX	HP:0004322	Short stature	-	OMIM:307800
5251	PHEX	HP:0004396	Poor appetite	-	OMIM:131300
5251	PHEX	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5251	PHEX	HP:0004363	Abnormal circulating calcium concentration	1/2	OMIM:307800
5251	PHEX	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5251	PHEX	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5251	PHEX	HP:0003026	Short long bone	7/7	OMIM:615777
5251	PHEX	HP:0003025	Metaphyseal irregularity	-	OMIM:307800
5251	PHEX	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:89936
5251	PHEX	HP:0031936	Delayed ability to walk	1/1	OMIM:307800
5251	PHEX	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5251	PHEX	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:89936
5251	PHEX	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5251	PHEX	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5251	PHEX	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5251	PHEX	HP:0000750	Delayed speech and language development	-	OMIM:615777
5251	PHEX	HP:0011461	Fetal onset	7/7	OMIM:615777
5251	PHEX	HP:0000774	Narrow chest	2/7	OMIM:615777
5251	PHEX	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:89936
5251	PHEX	HP:0030757	Tooth abscess	HP:0040282	ORPHA:89936
5251	PHEX	HP:0010299	Abnormal dentin morphology	HP:0040282	ORPHA:89936
5251	PHEX	HP:0000926	Platyspondyly	1/7	OMIM:615777
5251	PHEX	HP:0000920	Enlargement of the costochondral junction	HP:0040283	ORPHA:89936
5251	PHEX	HP:0003180	Flat acetabular roof	-	OMIM:615777
5251	PHEX	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:307800
5251	PHEX	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040281	ORPHA:89936
5251	PHEX	HP:0004482	Relative macrocephaly	-	OMIM:615777
5251	PHEX	HP:0003165	Elevated circulating parathyroid hormone level	-	OMIM:307800
5251	PHEX	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5251	PHEX	HP:0003127	Hypocalciuria	HP:0040281	ORPHA:89936
5251	PHEX	HP:0005789	Generalized osteosclerosis	HP:0040284	ORPHA:89936
5251	PHEX	HP:0000867	Secondary hyperparathyroidism	HP:0040283	ORPHA:89936
5251	PHEX	HP:0000823	Delayed puberty	-	OMIM:131300
5251	PHEX	HP:0000894	Short clavicles	-	OMIM:615777
5251	PHEX	HP:0000897	Rachitic rosary	1/1	OMIM:307800
5251	PHEX	HP:0000897	Rachitic rosary	HP:0040282	ORPHA:89936
5251	PHEX	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5251	PHEX	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5251	PHEX	HP:0000286	Epicanthus	1/7	OMIM:615777
5251	PHEX	HP:0000280	Coarse facial features	2/7	OMIM:615777
5251	PHEX	HP:0006432	Trapezoidal distal femoral condyles	-	OMIM:307800
5251	PHEX	HP:0006432	Trapezoidal distal femoral condyles	HP:0040283	ORPHA:89936
5251	PHEX	HP:0002829	Arthralgia	HP:0040282	ORPHA:89936
5251	PHEX	HP:0002829	Arthralgia	-	OMIM:307800
5251	PHEX	HP:0002827	Hip dislocation	3/7	OMIM:615777
5251	PHEX	HP:0000252	Microcephaly	-	OMIM:615777
5251	PHEX	HP:0002857	Genu valgum	-	OMIM:131300
5251	PHEX	HP:0002857	Genu valgum	HP:0040282	ORPHA:89936
5251	PHEX	HP:0002857	Genu valgum	1/1	OMIM:307800
5251	PHEX	HP:0002869	Flared iliac wing	HP:0040283	ORPHA:89936
5251	PHEX	HP:0001533	Slender build	-	OMIM:131300
5251	PHEX	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5251	PHEX	HP:0001510	Growth delay	HP:0040282	ORPHA:89936
5251	PHEX	HP:0007807	Optic nerve compression	-	OMIM:131300
5251	PHEX	HP:0012378	Fatigue	HP:0040283	ORPHA:89936
5251	PHEX	HP:0012368	Flat face	7/7	OMIM:615777
5251	PHEX	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5251	PHEX	HP:0006490	Abnormal lower-limb metaphysis morphology	HP:0040281	ORPHA:89936
5251	PHEX	HP:0006487	Bowing of the long bones	HP:0040282	ORPHA:89936
5251	PHEX	HP:0000365	Hearing impairment	10/67	OMIM:131300
5251	PHEX	HP:0000360	Tinnitus	HP:0040283	ORPHA:89936
5251	PHEX	HP:0000343	Long philtrum	1/7	OMIM:615777
5251	PHEX	HP:0011001	Increased bone mineral density	-	OMIM:131300
5251	PHEX	HP:0002982	Tibial bowing	1/1	OMIM:307800
5251	PHEX	HP:0002980	Femoral bowing	1/1	OMIM:307800
5251	PHEX	HP:0002979	Bowing of the legs	HP:0040282	ORPHA:89936
5251	PHEX	HP:0002979	Bowing of the legs	1/1	OMIM:307800
5251	PHEX	HP:0000311	Round face	2/7	OMIM:615777
5251	PHEX	HP:0002970	Genu varum	HP:0040282	ORPHA:89936
5251	PHEX	HP:0002970	Genu varum	-	OMIM:615777
5251	PHEX	HP:0000303	Mandibular prognathia	-	OMIM:131300
5251	PHEX	HP:0006640	Multiple rib fractures	HP:0040283	ORPHA:89936
5251	PHEX	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:89936
5251	PHEX	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5251	PHEX	HP:0012449	Sacroiliac joint synovitis	HP:0040283	ORPHA:89936
5251	PHEX	HP:0000470	Short neck	1/7	OMIM:615777
5251	PHEX	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5251	PHEX	HP:0001763	Pes planus	1/7	OMIM:615777
5251	PHEX	HP:0001840	Metatarsus adductus	-	OMIM:615777
5251	PHEX	HP:0000520	Proptosis	2/4	OMIM:131300
5251	PHEX	HP:0000520	Proptosis	7/7	OMIM:615777
5251	PHEX	HP:0000592	Blue sclerae	2/7	OMIM:615777
5251	PHEX	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5251	PHEX	HP:0012514	Lower limb pain	4/4	OMIM:131300
5255	PHKA1	HP:0002460	Distal muscle weakness	1/1	OMIM:300559
5255	PHKA1	HP:0003749	Pelvic girdle muscle weakness	1/1	OMIM:300559
5255	PHKA1	HP:0003731	Quadriceps muscle weakness	1/1	OMIM:300559
5255	PHKA1	HP:0003738	Exercise-induced myalgia	-	OMIM:300559
5255	PHKA1	HP:0003713	Muscle fiber necrosis	1/1	OMIM:300559
5255	PHKA1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:715
5255	PHKA1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:715
5255	PHKA1	HP:0007340	Lower limb muscle weakness	1/1	OMIM:300559
5255	PHKA1	HP:0001324	Muscle weakness	-	OMIM:300559
5255	PHKA1	HP:0008967	Exercise-induced muscle stiffness	-	OMIM:300559
5255	PHKA1	HP:0001419	X-linked recessive inheritance	-	OMIM:300559
5255	PHKA1	HP:0003326	Myalgia	HP:0040282	ORPHA:715
5255	PHKA1	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:715
5255	PHKA1	HP:0003394	Muscle spasm	HP:0040283	ORPHA:715
5255	PHKA1	HP:0003391	Gowers sign	HP:0040283	ORPHA:715
5255	PHKA1	HP:6000198	Reduced muscle phosphorylase kinase activity	HP:0040282	ORPHA:715
5255	PHKA1	HP:6000198	Reduced muscle phosphorylase kinase activity	1/1	OMIM:300559
5255	PHKA1	HP:0100595	Camptocormia	HP:0040283	ORPHA:715
5255	PHKA1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:715
5255	PHKA1	HP:0003596	Middle age onset	3/3	OMIM:300559
5255	PHKA1	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:715
5255	PHKA1	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:715
5255	PHKA1	HP:0003546	Exercise intolerance	1/1	OMIM:300559
5255	PHKA1	HP:0008305	Exercise-induced myoglobinuria	-	OMIM:300559
5255	PHKA1	HP:0003693	Distal amyotrophy	1/1	OMIM:300559
5255	PHKA1	HP:0001943	Hypoglycemia	1/1	OMIM:300559
5255	PHKA1	HP:0009051	Increased muscle glycogen content	HP:0040282	ORPHA:715
5255	PHKA1	HP:0009051	Increased muscle glycogen content	1/1	OMIM:300559
5255	PHKA1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:715
5255	PHKA1	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:300559
5255	PHKA1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:715
5255	PHKA1	HP:0003202	Skeletal muscle atrophy	-	OMIM:300559
5255	PHKA1	HP:0012378	Fatigue	HP:0040282	ORPHA:715
5255	PHKA1	HP:0002913	Myoglobinuria	HP:0040283	ORPHA:715
5255	PHKA1	HP:0030231	Glycogen accumulation in muscle fiber lysosomes	1/1	OMIM:300559
5256	PHKA2	HP:0410175	Hyperketonemia	HP:0040282	ORPHA:264580
5256	PHKA2	HP:0001270	Motor delay	1/15	OMIM:306000
5256	PHKA2	HP:0001252	Hypotonia	2/15	OMIM:306000
5256	PHKA2	HP:0001252	Hypotonia	HP:0040284	ORPHA:264580
5256	PHKA2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0001396	Cholestasis	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:264580
5256	PHKA2	HP:0001394	Cirrhosis	HP:0040284	ORPHA:264580
5256	PHKA2	HP:0012028	Hepatocellular adenoma	HP:0040284	ORPHA:264580
5256	PHKA2	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0001419	X-linked recessive inheritance	-	OMIM:306000
5256	PHKA2	HP:0002719	Recurrent infections	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0002018	Nausea	HP:0040284	ORPHA:264580
5256	PHKA2	HP:0003326	Myalgia	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0002014	Diarrhea	HP:0040284	ORPHA:264580
5256	PHKA2	HP:0002013	Vomiting	HP:0040284	ORPHA:264580
5256	PHKA2	HP:0003323	Progressive muscle weakness	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0003394	Muscle spasm	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0002040	Esophageal varix	HP:0040284	ORPHA:264580
5256	PHKA2	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:264580
5256	PHKA2	HP:0002155	Hypertriglyceridemia	-	OMIM:306000
5256	PHKA2	HP:0002149	Hyperuricemia	1/5	OMIM:306000
5256	PHKA2	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0003593	Infantile onset	4/13	OMIM:306000
5256	PHKA2	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:264580
5256	PHKA2	HP:0002240	Hepatomegaly	10/15	OMIM:306000
5256	PHKA2	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:264580
5256	PHKA2	HP:6000333	Reduced hepatic phosphorylase kinase activity	-	OMIM:306000
5256	PHKA2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0100607	Dysmenorrhea	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0003621	Juvenile onset	1/13	OMIM:306000
5256	PHKA2	HP:0001947	Renal tubular acidosis	HP:0040284	ORPHA:264580
5256	PHKA2	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:264580
5256	PHKA2	HP:0001943	Hypoglycemia	10/15	OMIM:306000
5256	PHKA2	HP:0001946	Ketosis	HP:0040282	ORPHA:264580
5256	PHKA2	HP:0001946	Ketosis	5/11	OMIM:306000
5256	PHKA2	HP:0001903	Anemia	HP:0040284	ORPHA:264580
5256	PHKA2	HP:0004324	Increased body weight	HP:0040284	ORPHA:264580
5256	PHKA2	HP:0004322	Short stature	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0000750	Delayed speech and language development	HP:0040284	ORPHA:264580
5256	PHKA2	HP:0011463	Childhood onset	8/13	OMIM:306000
5256	PHKA2	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:264580
5256	PHKA2	HP:0003124	Hypercholesterolemia	-	OMIM:306000
5256	PHKA2	HP:0003162	Fasting hypoglycemia	HP:0040282	ORPHA:264580
5256	PHKA2	HP:0003128	Lactic acidosis	HP:0040284	ORPHA:264580
5256	PHKA2	HP:0003128	Lactic acidosis	5/12	OMIM:306000
5256	PHKA2	HP:0000876	Oligomenorrhea	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0000823	Delayed puberty	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0000939	Osteoporosis	HP:0040284	ORPHA:264580
5256	PHKA2	HP:0001508	Failure to thrive	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0001510	Growth delay	HP:0040282	ORPHA:264580
5256	PHKA2	HP:0001510	Growth delay	-	OMIM:306000
5256	PHKA2	HP:0012378	Fatigue	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0012378	Fatigue	3/15	OMIM:306000
5256	PHKA2	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:264580
5256	PHKA2	HP:0006580	Portal fibrosis	HP:0040284	ORPHA:264580
5256	PHKA2	HP:0002913	Myoglobinuria	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:264580
5256	PHKA2	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:306000
5256	PHKA2	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:264580
5256	PHKA2	HP:0030232	Increased sarcoplasmic glycogen	HP:0040283	ORPHA:264580
5256	PHKA2	HP:0030272	Abnormal erythrocyte enzyme concentration or activity	HP:0040281	ORPHA:264580
5256	PHKA2	HP:0001744	Splenomegaly	HP:0040284	ORPHA:264580
5256	PHKA2	HP:0001744	Splenomegaly	2/15	OMIM:306000
5257	PHKB	HP:0003749	Pelvic girdle muscle weakness	HP:0040283	ORPHA:79240
5257	PHKB	HP:0001252	Hypotonia	2/15	OMIM:261750
5257	PHKB	HP:0001252	Hypotonia	HP:0040283	ORPHA:79240
5257	PHKB	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:79240
5257	PHKB	HP:0001394	Cirrhosis	HP:0040283	ORPHA:79240
5257	PHKB	HP:0012028	Hepatocellular adenoma	HP:0040284	ORPHA:79240
5257	PHKB	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:79240
5257	PHKB	HP:0001324	Muscle weakness	3/15	OMIM:261750
5257	PHKB	HP:0000007	Autosomal recessive inheritance	-	OMIM:261750
5257	PHKB	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:79240
5257	PHKB	HP:0001402	Hepatocellular carcinoma	HP:0040284	ORPHA:79240
5257	PHKB	HP:0002719	Recurrent infections	HP:0040283	ORPHA:79240
5257	PHKB	HP:0002018	Nausea	HP:0040284	ORPHA:79240
5257	PHKB	HP:0003325	Limb-girdle muscle weakness	HP:0040283	ORPHA:79240
5257	PHKB	HP:0003326	Myalgia	HP:0040283	ORPHA:79240
5257	PHKB	HP:0002014	Diarrhea	HP:0040284	ORPHA:79240
5257	PHKB	HP:0002014	Diarrhea	-	OMIM:261750
5257	PHKB	HP:0002013	Vomiting	HP:0040284	ORPHA:79240
5257	PHKB	HP:0003323	Progressive muscle weakness	HP:0040283	ORPHA:79240
5257	PHKB	HP:0003394	Muscle spasm	HP:0040283	ORPHA:79240
5257	PHKB	HP:0002155	Hypertriglyceridemia	HP:0040281	ORPHA:79240
5257	PHKB	HP:0002149	Hyperuricemia	1/5	OMIM:261750
5257	PHKB	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:79240
5257	PHKB	HP:0003593	Infantile onset	-	OMIM:261750
5257	PHKB	HP:0002240	Hepatomegaly	10/15	OMIM:261750
5257	PHKB	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:79240
5257	PHKB	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:79240
5257	PHKB	HP:6000333	Reduced hepatic phosphorylase kinase activity	-	OMIM:261750
5257	PHKB	HP:0100607	Dysmenorrhea	HP:0040283	ORPHA:79240
5257	PHKB	HP:0001947	Renal tubular acidosis	HP:0040283	ORPHA:79240
5257	PHKB	HP:0001943	Hypoglycemia	10/15	OMIM:261750
5257	PHKB	HP:0001903	Anemia	HP:0040284	ORPHA:79240
5257	PHKB	HP:0009051	Increased muscle glycogen content	-	OMIM:261750
5257	PHKB	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:79240
5257	PHKB	HP:0001988	Recurrent hypoglycemia	HP:0040283	ORPHA:79240
5257	PHKB	HP:0004324	Increased body weight	HP:0040284	ORPHA:79240
5257	PHKB	HP:0004322	Short stature	3/15	OMIM:261750
5257	PHKB	HP:0004322	Short stature	HP:0040283	ORPHA:79240
5257	PHKB	HP:0012734	Ketotic hypoglycemia	HP:0040283	ORPHA:79240
5257	PHKB	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:79240
5257	PHKB	HP:0011463	Childhood onset	-	OMIM:261750
5257	PHKB	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:79240
5257	PHKB	HP:0003162	Fasting hypoglycemia	HP:0040282	ORPHA:79240
5257	PHKB	HP:0003128	Lactic acidosis	HP:0040284	ORPHA:79240
5257	PHKB	HP:0000876	Oligomenorrhea	HP:0040283	ORPHA:79240
5257	PHKB	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:79240
5257	PHKB	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:79240
5257	PHKB	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:79240
5257	PHKB	HP:0003201	Rhabdomyolysis	HP:0040284	ORPHA:79240
5257	PHKB	HP:0000939	Osteoporosis	HP:0040284	ORPHA:79240
5257	PHKB	HP:0001510	Growth delay	7/15	OMIM:261750
5257	PHKB	HP:0012378	Fatigue	HP:0040283	ORPHA:79240
5257	PHKB	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:79240
5257	PHKB	HP:0006568	Increased hepatic glycogen content	-	OMIM:261750
5257	PHKB	HP:0002913	Myoglobinuria	HP:0040284	ORPHA:79240
5257	PHKB	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:79240
5257	PHKB	HP:0001744	Splenomegaly	2/15	OMIM:261750
5257	PHKB	HP:0001744	Splenomegaly	HP:0040283	ORPHA:79240
5260	PHKG1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:715
5260	PHKG1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:715
5260	PHKG1	HP:0003326	Myalgia	HP:0040282	ORPHA:715
5260	PHKG1	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:715
5260	PHKG1	HP:0003394	Muscle spasm	HP:0040283	ORPHA:715
5260	PHKG1	HP:0003391	Gowers sign	HP:0040283	ORPHA:715
5260	PHKG1	HP:6000198	Reduced muscle phosphorylase kinase activity	HP:0040282	ORPHA:715
5260	PHKG1	HP:0100595	Camptocormia	HP:0040283	ORPHA:715
5260	PHKG1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:715
5260	PHKG1	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:715
5260	PHKG1	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:715
5260	PHKG1	HP:0009051	Increased muscle glycogen content	HP:0040282	ORPHA:715
5260	PHKG1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:715
5260	PHKG1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:715
5260	PHKG1	HP:0012378	Fatigue	HP:0040282	ORPHA:715
5260	PHKG1	HP:0002913	Myoglobinuria	HP:0040283	ORPHA:715
5261	PHKG2	HP:0410175	Hyperketonemia	HP:0040282	ORPHA:264580
5261	PHKG2	HP:0001270	Motor delay	2/3	OMIM:613027
5261	PHKG2	HP:0001252	Hypotonia	2/3	OMIM:613027
5261	PHKG2	HP:0001252	Hypotonia	HP:0040284	ORPHA:264580
5261	PHKG2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0001396	Cholestasis	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:264580
5261	PHKG2	HP:0001394	Cirrhosis	2/2	OMIM:613027
5261	PHKG2	HP:0001394	Cirrhosis	HP:0040284	ORPHA:264580
5261	PHKG2	HP:0012028	Hepatocellular adenoma	HP:0040284	ORPHA:264580
5261	PHKG2	HP:0008897	Postnatal growth retardation	1/2	OMIM:613027
5261	PHKG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613027
5261	PHKG2	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0001408	Bile duct proliferation	1/3	OMIM:613027
5261	PHKG2	HP:0002719	Recurrent infections	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0002018	Nausea	HP:0040284	ORPHA:264580
5261	PHKG2	HP:0003326	Myalgia	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0002014	Diarrhea	HP:0040284	ORPHA:264580
5261	PHKG2	HP:0002013	Vomiting	HP:0040284	ORPHA:264580
5261	PHKG2	HP:0003323	Progressive muscle weakness	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0003394	Muscle spasm	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0002040	Esophageal varix	HP:0040284	ORPHA:264580
5261	PHKG2	HP:0002155	Hypertriglyceridemia	3/5	OMIM:613027
5261	PHKG2	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:264580
5261	PHKG2	HP:0002151	Increased circulating lactate concentration	1/2	OMIM:613027
5261	PHKG2	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0003593	Infantile onset	3/3	OMIM:613027
5261	PHKG2	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:264580
5261	PHKG2	HP:0002240	Hepatomegaly	3/3	OMIM:613027
5261	PHKG2	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:264580
5261	PHKG2	HP:6000333	Reduced hepatic phosphorylase kinase activity	-	OMIM:613027
5261	PHKG2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0100607	Dysmenorrhea	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0003621	Juvenile onset	1/2	OMIM:613027
5261	PHKG2	HP:0001947	Renal tubular acidosis	HP:0040284	ORPHA:264580
5261	PHKG2	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:264580
5261	PHKG2	HP:0001943	Hypoglycemia	1/2	OMIM:613027
5261	PHKG2	HP:0001946	Ketosis	HP:0040282	ORPHA:264580
5261	PHKG2	HP:0001946	Ketosis	-	OMIM:613027
5261	PHKG2	HP:0001903	Anemia	HP:0040284	ORPHA:264580
5261	PHKG2	HP:0004324	Increased body weight	HP:0040284	ORPHA:264580
5261	PHKG2	HP:0004322	Short stature	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0000750	Delayed speech and language development	HP:0040284	ORPHA:264580
5261	PHKG2	HP:0011463	Childhood onset	1/2	OMIM:613027
5261	PHKG2	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:264580
5261	PHKG2	HP:0003162	Fasting hypoglycemia	HP:0040282	ORPHA:264580
5261	PHKG2	HP:0003162	Fasting hypoglycemia	1/3	OMIM:613027
5261	PHKG2	HP:0003128	Lactic acidosis	HP:0040284	ORPHA:264580
5261	PHKG2	HP:0003128	Lactic acidosis	-	OMIM:613027
5261	PHKG2	HP:0000876	Oligomenorrhea	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0000823	Delayed puberty	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0000939	Osteoporosis	HP:0040284	ORPHA:264580
5261	PHKG2	HP:0001508	Failure to thrive	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0001510	Growth delay	HP:0040282	ORPHA:264580
5261	PHKG2	HP:0001510	Growth delay	3/3	OMIM:613027
5261	PHKG2	HP:0012378	Fatigue	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:264580
5261	PHKG2	HP:0006580	Portal fibrosis	HP:0040284	ORPHA:264580
5261	PHKG2	HP:0006568	Increased hepatic glycogen content	2/2	OMIM:613027
5261	PHKG2	HP:0002913	Myoglobinuria	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:264580
5261	PHKG2	HP:0002910	Elevated circulating hepatic transaminase concentration	4/5	OMIM:613027
5261	PHKG2	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:264580
5261	PHKG2	HP:0030232	Increased sarcoplasmic glycogen	HP:0040283	ORPHA:264580
5261	PHKG2	HP:0030272	Abnormal erythrocyte enzyme concentration or activity	HP:0040281	ORPHA:264580
5261	PHKG2	HP:0001744	Splenomegaly	HP:0040284	ORPHA:264580
5261	PHKG2	HP:0001744	Splenomegaly	-	OMIM:613027
5264	PHYH	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5264	PHYH	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:773
5264	PHYH	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:773
5264	PHYH	HP:0001252	Hypotonia	HP:0040282	ORPHA:773
5264	PHYH	HP:0001251	Ataxia	HP:0040281	ORPHA:773
5264	PHYH	HP:0001251	Ataxia	-	OMIM:266500
5264	PHYH	HP:0001265	Hyporeflexia	-	OMIM:266500
5264	PHYH	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:773
5264	PHYH	HP:0002654	Multiple epiphyseal dysplasia	-	OMIM:266500
5264	PHYH	HP:0000007	Autosomal recessive inheritance	-	OMIM:266500
5264	PHYH	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5264	PHYH	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5264	PHYH	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:773
5264	PHYH	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5264	PHYH	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5264	PHYH	HP:0004689	Short fourth metatarsal	-	OMIM:266500
5264	PHYH	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:773
5264	PHYH	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:773
5264	PHYH	HP:0003474	Somatic sensory dysfunction	-	OMIM:266500
5264	PHYH	HP:0002164	Nail dysplasia	HP:0040281	ORPHA:773
5264	PHYH	HP:0010571	Elevated circulating phytanic acid concentration	-	OMIM:266500
5264	PHYH	HP:0003690	Limb muscle weakness	-	OMIM:266500
5264	PHYH	HP:0002376	Developmental regression	HP:0040282	ORPHA:773
5264	PHYH	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:773
5264	PHYH	HP:0007141	Sensorimotor neuropathy	-	OMIM:266500
5264	PHYH	HP:0003621	Juvenile onset	8/19	OMIM:180100
5264	PHYH	HP:0000639	Nystagmus	HP:0040283	ORPHA:773
5264	PHYH	HP:0000639	Nystagmus	-	OMIM:266500
5264	PHYH	HP:0000616	Miosis	HP:0040282	ORPHA:773
5264	PHYH	HP:0000616	Miosis	-	OMIM:266500
5264	PHYH	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:773
5264	PHYH	HP:0010049	Short metacarpal	HP:0040282	ORPHA:773
5264	PHYH	HP:0000662	Nyctalopia	-	OMIM:266500
5264	PHYH	HP:0000662	Nyctalopia	26/28	OMIM:180100
5264	PHYH	HP:0000662	Nyctalopia	HP:0040282	ORPHA:773
5264	PHYH	HP:0004374	Hemiplegia/hemiparesis	HP:0040281	ORPHA:773
5264	PHYH	HP:0012722	Heart block	HP:0040283	ORPHA:773
5264	PHYH	HP:0011463	Childhood onset	3/19	OMIM:180100
5264	PHYH	HP:0011462	Young adult onset	8/19	OMIM:180100
5264	PHYH	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:773
5264	PHYH	HP:4000163	Reduced phytanic acid oxidase activity in cultured fibroblasts	20/20	OMIM:266500
5264	PHYH	HP:0000958	Dry skin	HP:0040281	ORPHA:773
5264	PHYH	HP:0008064	Ichthyosis	-	OMIM:266500
5264	PHYH	HP:0008064	Ichthyosis	HP:0040281	ORPHA:773
5264	PHYH	HP:0011675	Arrhythmia	-	OMIM:266500
5264	PHYH	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:773
5264	PHYH	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5264	PHYH	HP:0012211	Abnormal renal physiology	HP:0040283	OMIM:266500
5264	PHYH	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5264	PHYH	HP:0002922	Increased CSF protein concentration	-	OMIM:266500
5264	PHYH	HP:0001640	Cardiomegaly	-	OMIM:266500
5264	PHYH	HP:0001635	Congestive heart failure	-	OMIM:266500
5264	PHYH	HP:0001638	Cardiomyopathy	-	OMIM:266500
5264	PHYH	HP:0001638	Cardiomyopathy	HP:0040281	ORPHA:773
5264	PHYH	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:773
5264	PHYH	HP:0000407	Sensorineural hearing impairment	-	OMIM:266500
5264	PHYH	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:773
5264	PHYH	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:773
5264	PHYH	HP:0000488	Retinopathy	HP:0040281	ORPHA:773
5264	PHYH	HP:0000458	Anosmia	-	OMIM:266500
5264	PHYH	HP:0000458	Anosmia	HP:0040281	ORPHA:773
5264	PHYH	HP:0001765	Hammertoe	HP:0040282	ORPHA:773
5264	PHYH	HP:0001744	Splenomegaly	HP:0040282	ORPHA:773
5264	PHYH	HP:0001760	Abnormal foot morphology	HP:0040281	ORPHA:773
5264	PHYH	HP:0001761	Pes cavus	HP:0040283	ORPHA:773
5264	PHYH	HP:0001761	Pes cavus	-	OMIM:266500
5264	PHYH	HP:0000518	Cataract	HP:0040281	ORPHA:773
5264	PHYH	HP:0000518	Cataract	-	OMIM:266500
5264	PHYH	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5264	PHYH	HP:0000510	Rod-cone dystrophy	-	OMIM:266500
5264	PHYH	HP:0000529	Progressive visual loss	HP:0040283	ORPHA:773
5264	PHYH	HP:0000508	Ptosis	HP:0040282	ORPHA:773
5264	PHYH	HP:0000508	Ptosis	-	OMIM:266500
5264	PHYH	HP:0000505	Visual impairment	HP:0040282	ORPHA:773
5264	PHYH	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:773
5264	PHYH	HP:0000575	Scotoma	5/18	OMIM:180100
5264	PHYH	HP:0000568	Microphthalmia	HP:0040283	ORPHA:773
5264	PHYH	HP:0000546	Retinal degeneration	-	OMIM:266500
5264	PHYH	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5264	PHYH	HP:0000545	Myopia	-	OMIM:180100
5265	SERPINA1	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
5265	SERPINA1	HP:0032229	Perinuclear antineutrophil antibody positivity	HP:0040283	ORPHA:60
5265	SERPINA1	HP:0033709	Increased sputum production	1/1	OMIM:613490
5265	SERPINA1	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
5265	SERPINA1	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
5265	SERPINA1	HP:0001396	Cholestasis	HP:0040283	ORPHA:60
5265	SERPINA1	HP:0001399	Hepatic failure	HP:0040281	ORPHA:60
5265	SERPINA1	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
5265	SERPINA1	HP:0001394	Cirrhosis	1/1	OMIM:613490
5265	SERPINA1	HP:0001394	Cirrhosis	HP:0040282	ORPHA:60
5265	SERPINA1	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
5265	SERPINA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613490
5265	SERPINA1	HP:0012115	Hepatitis	HP:0040282	ORPHA:60
5265	SERPINA1	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
5265	SERPINA1	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:60
5265	SERPINA1	HP:0001402	Hepatocellular carcinoma	-	OMIM:613490
5265	SERPINA1	HP:0001402	Hepatocellular carcinoma	HP:0040284	ORPHA:60
5265	SERPINA1	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
5265	SERPINA1	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
5265	SERPINA1	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
5265	SERPINA1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
5265	SERPINA1	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
5265	SERPINA1	HP:0002099	Asthma	HP:0040283	ORPHA:586
5265	SERPINA1	HP:0002097	Emphysema	HP:0040281	ORPHA:60
5265	SERPINA1	HP:0002094	Dyspnea	29/130	OMIM:613490
5265	SERPINA1	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
5265	SERPINA1	HP:0002110	Bronchiectasis	1/1	OMIM:613490
5265	SERPINA1	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:60
5265	SERPINA1	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
5265	SERPINA1	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
5265	SERPINA1	HP:0002105	Hemoptysis	1/1	OMIM:613490
5265	SERPINA1	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
5265	SERPINA1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:60
5265	SERPINA1	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
5265	SERPINA1	HP:0032025	Reduced circulating alpha-1-antitrypsin concentration	HP:0040281	ORPHA:60
5265	SERPINA1	HP:0032025	Reduced circulating alpha-1-antitrypsin concentration	1/1	OMIM:613490
5265	SERPINA1	HP:0012735	Cough	1/1	OMIM:613490
5265	SERPINA1	HP:0000739	Anxiety	HP:0040283	ORPHA:586
5265	SERPINA1	HP:0000716	Depression	HP:0040283	ORPHA:586
5265	SERPINA1	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
5265	SERPINA1	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
5265	SERPINA1	HP:0004469	Chronic bronchitis	7/129	OMIM:613490
5265	SERPINA1	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
5265	SERPINA1	HP:0045051	Decreased DLCO	HP:0040282	ORPHA:60
5265	SERPINA1	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
5265	SERPINA1	HP:0030828	Wheezing	20/127	OMIM:613490
5265	SERPINA1	HP:0003251	Male infertility	HP:0040282	ORPHA:586
5265	SERPINA1	HP:0000952	Jaundice	HP:0040282	ORPHA:60
5265	SERPINA1	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
5265	SERPINA1	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
5265	SERPINA1	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
5265	SERPINA1	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
5265	SERPINA1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
5265	SERPINA1	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
5265	SERPINA1	HP:0006510	Chronic pulmonary obstruction	-	OMIM:613490
5265	SERPINA1	HP:0006510	Chronic pulmonary obstruction	HP:0040283	ORPHA:60
5265	SERPINA1	HP:0012387	Bronchitis	HP:0040282	ORPHA:60
5265	SERPINA1	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
5265	SERPINA1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
5265	SERPINA1	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:613490
5265	SERPINA1	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
5265	SERPINA1	HP:0030169	Gastric varix	1/1	OMIM:613490
5265	SERPINA1	HP:0032967	Panacinar emphysema	-	OMIM:613490
5265	SERPINA1	HP:0012490	Panniculitis	HP:0040284	ORPHA:60
5265	SERPINA1	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
5265	SERPINA1	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
5265	SERPINA1	HP:0001744	Splenomegaly	1/1	OMIM:613490
5265	SERPINA1	HP:0025708	Early young adult onset	1/1	OMIM:613490
5269	SERPINB6	HP:0000007	Autosomal recessive inheritance	-	OMIM:613453
5269	SERPINB6	HP:0001730	Progressive hearing impairment	-	OMIM:613453
5271	SERPINB8	HP:0000007	Autosomal recessive inheritance	-	OMIM:617115
5271	SERPINB8	HP:0003593	Infantile onset	7/7	OMIM:617115
5271	SERPINB8	HP:0025092	Epidermal acanthosis	-	OMIM:617115
5271	SERPINB8	HP:0000962	Hyperkeratosis	-	OMIM:617115
5271	SERPINB8	HP:0040189	Scaling skin	7/7	OMIM:617115
5274	SERPINI1	HP:0001298	Encephalopathy	-	OMIM:604218
5274	SERPINI1	HP:0001250	Seizure	-	OMIM:604218
5274	SERPINI1	HP:0001260	Dysarthria	-	OMIM:604218
5274	SERPINI1	HP:0002529	Neuronal loss in central nervous system	-	OMIM:604218
5274	SERPINI1	HP:0000006	Autosomal dominant inheritance	-	OMIM:604218
5274	SERPINI1	HP:0001336	Myoclonus	-	OMIM:604218
5274	SERPINI1	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:604218
5274	SERPINI1	HP:0002059	Cerebral atrophy	-	OMIM:604218
5274	SERPINI1	HP:0002171	Gliosis	-	OMIM:604218
5274	SERPINI1	HP:0000639	Nystagmus	-	OMIM:604218
5274	SERPINI1	HP:0000651	Diplopia	-	OMIM:604218
5274	SERPINI1	HP:6001062	Eosinophilic neuronal inclusion bodies	2/2	OMIM:604218
5274	SERPINI1	HP:0000726	Dementia	-	OMIM:604218
5274	SERPINI1	HP:0002936	Distal sensory impairment	-	OMIM:604218
5277	PIGA	HP:0001169	Broad palm	1/2	OMIM:300868
5277	PIGA	HP:0001182	Tapered finger	1/6	OMIM:301072
5277	PIGA	HP:0001182	Tapered finger	1/1	OMIM:300868
5277	PIGA	HP:0025116	Fetal distress	1/2	OMIM:300868
5277	PIGA	HP:0001103	Abnormal macular morphology	1/1	OMIM:300868
5277	PIGA	HP:0003765	Psoriasiform dermatitis	1/1	OMIM:300868
5277	PIGA	HP:0002445	Tetraplegia	2/2	OMIM:300868
5277	PIGA	HP:0009909	Uplifted earlobe	1/1	OMIM:300868
5277	PIGA	HP:0009890	High anterior hairline	1/1	OMIM:300868
5277	PIGA	HP:0010851	EEG with burst suppression	3/3	OMIM:300868
5277	PIGA	HP:0002421	Poor head control	2/2	OMIM:300868
5277	PIGA	HP:0003700	Generalized amyotrophy	1/1	OMIM:300868
5277	PIGA	HP:0003700	Generalized amyotrophy	2/6	OMIM:301072
5277	PIGA	HP:0001298	Encephalopathy	2/2	OMIM:300868
5277	PIGA	HP:0001297	Stroke	HP:0040283	ORPHA:447
5277	PIGA	HP:0001276	Hypertonia	HP:0040283	ORPHA:293181
5277	PIGA	HP:0001272	Cerebellar atrophy	3/6	OMIM:301072
5277	PIGA	HP:0001272	Cerebellar atrophy	1/1	OMIM:300868
5277	PIGA	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:293181
5277	PIGA	HP:0001270	Motor delay	2/2	OMIM:300868
5277	PIGA	HP:0002599	Head titubation	1/1	OMIM:300868
5277	PIGA	HP:0001254	Lethargy	HP:0040283	ORPHA:447
5277	PIGA	HP:0001250	Seizure	5/5	OMIM:300868
5277	PIGA	HP:0001250	Seizure	5/5	OMIM:301072
5277	PIGA	HP:0001252	Hypotonia	3/3	OMIM:300868
5277	PIGA	HP:0001252	Hypotonia	HP:0040282	ORPHA:293181
5277	PIGA	HP:0001252	Hypotonia	3/4	OMIM:301072
5277	PIGA	HP:0001251	Ataxia	1/6	OMIM:301072
5277	PIGA	HP:0001263	Global developmental delay	16/16	OMIM:300868
5277	PIGA	HP:0001263	Global developmental delay	6/6	OMIM:301072
5277	PIGA	HP:0001257	Spasticity	2/6	OMIM:301072
5277	PIGA	HP:0001257	Spasticity	2/2	OMIM:300868
5277	PIGA	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:447
5277	PIGA	HP:0025271	Esophageal spasms	HP:0040284	ORPHA:447
5277	PIGA	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1/1	OMIM:300868
5277	PIGA	HP:0007361	Abnormal pons morphology	-	OMIM:300868
5277	PIGA	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:293181
5277	PIGA	HP:0002540	Inability to walk	HP:0040281	ORPHA:293181
5277	PIGA	HP:0002540	Inability to walk	1/1	OMIM:300868
5277	PIGA	HP:0500200	Increased CSF glutamate concentration	1/1	OMIM:301072
5277	PIGA	HP:0002521	Hypsarrhythmia	HP:0040281	ORPHA:697160
5277	PIGA	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:293181
5277	PIGA	HP:0002521	Hypsarrhythmia	9/9	OMIM:300868
5277	PIGA	HP:0002529	Neuronal loss in central nervous system	1/1	OMIM:300868
5277	PIGA	HP:0002510	Spastic tetraplegia	2/2	OMIM:300868
5277	PIGA	HP:0002500	Abnormal cerebral white matter morphology	1/1	OMIM:300868
5277	PIGA	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:447
5277	PIGA	HP:0000081	Duplicated collecting system	1/2	OMIM:300868
5277	PIGA	HP:0000093	Proteinuria	HP:0040283	ORPHA:447
5277	PIGA	HP:0001397	Hepatic steatosis	1/1	OMIM:300868
5277	PIGA	HP:0001399	Hepatic failure	1/1	OMIM:300868
5277	PIGA	HP:0001399	Hepatic failure	1/6	OMIM:301072
5277	PIGA	HP:0001394	Cirrhosis	HP:0040283	OMIM:300868
5277	PIGA	HP:0001394	Cirrhosis	1/5	OMIM:301072
5277	PIGA	HP:0000076	Vesicoureteral reflux	4/5	OMIM:300868
5277	PIGA	HP:0001371	Flexion contracture	2/6	OMIM:301072
5277	PIGA	HP:0001371	Flexion contracture	7/7	OMIM:300868
5277	PIGA	HP:0001367	Abnormal joint morphology	3/3	OMIM:300868
5277	PIGA	HP:0000054	Micropenis	-	OMIM:300868
5277	PIGA	HP:0000047	Hypospadias	1/6	OMIM:301072
5277	PIGA	HP:0001348	Brisk reflexes	3/3	OMIM:300868
5277	PIGA	HP:0001347	Hyperreflexia	1/6	OMIM:301072
5277	PIGA	HP:0001347	Hyperreflexia	3/3	OMIM:300868
5277	PIGA	HP:0012001	EEG with generalized polyspikes	2/2	OMIM:300868
5277	PIGA	HP:0000029	Testicular atrophy	1/1	OMIM:300868
5277	PIGA	HP:0001357	Plagiocephaly	2/2	OMIM:300868
5277	PIGA	HP:0001357	Plagiocephaly	1/6	OMIM:301072
5277	PIGA	HP:0000028	Cryptorchidism	1/6	OMIM:301072
5277	PIGA	HP:0031145	Starry sky appearance on hepatic sonography	1/1	OMIM:300868
5277	PIGA	HP:0006191	Deep palmar crease	1/1	OMIM:300868
5277	PIGA	HP:0001331	Absent septum pellucidum	1/1	OMIM:300868
5277	PIGA	HP:0001332	Dystonia	1/1	OMIM:300868
5277	PIGA	HP:0001341	Olfactory lobe agenesis	1/2	OMIM:300868
5277	PIGA	HP:0001344	Absent speech	1/1	OMIM:301072
5277	PIGA	HP:0001344	Absent speech	1/1	OMIM:300868
5277	PIGA	HP:0000007	Autosomal recessive inheritance	-	OMIM:300868
5277	PIGA	HP:0001336	Myoclonus	1/6	OMIM:301072
5277	PIGA	HP:0001336	Myoclonus	HP:0040281	ORPHA:697160
5277	PIGA	HP:0001336	Myoclonus	3/3	OMIM:300868
5277	PIGA	HP:0002639	Budd-Chiari syndrome	HP:0040283	ORPHA:447
5277	PIGA	HP:0002650	Scoliosis	1/6	OMIM:301072
5277	PIGA	HP:0002650	Scoliosis	1/1	OMIM:300868
5277	PIGA	HP:0002650	Scoliosis	HP:0040283	ORPHA:293181
5277	PIGA	HP:0001321	Cerebellar hypoplasia	2/2	OMIM:300868
5277	PIGA	HP:0002625	Deep venous thrombosis	HP:0040282	ORPHA:447
5277	PIGA	HP:0000160	Narrow mouth	1/2	OMIM:300868
5277	PIGA	HP:0001488	Bilateral ptosis	1/1	OMIM:300868
5277	PIGA	HP:0012132	Erythroid hyperplasia	HP:0040283	ORPHA:447
5277	PIGA	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:447
5277	PIGA	HP:0006349	Agenesis of permanent teeth	1/1	OMIM:300868
5277	PIGA	HP:0008936	Axial hypotonia	2/2	OMIM:301072
5277	PIGA	HP:0008936	Axial hypotonia	5/6	OMIM:300868
5277	PIGA	HP:0002705	High, narrow palate	2/2	OMIM:300868
5277	PIGA	HP:0012103	Abnormality of the mitochondrion	1/1	OMIM:300868
5277	PIGA	HP:0025404	Abnormal visual fixation	2/2	OMIM:300868
5277	PIGA	HP:0025406	Asthenia	HP:0040281	ORPHA:447
5277	PIGA	HP:0000126	Hydronephrosis	1/1	OMIM:300868
5277	PIGA	HP:0002753	Thin bony cortex	1/1	OMIM:300868
5277	PIGA	HP:0001442	Typified by somatic mosaicism	-	OMIM:300818
5277	PIGA	HP:0001433	Hepatosplenomegaly	2/2	OMIM:300868
5277	PIGA	HP:0001419	X-linked recessive inheritance	-	OMIM:301072
5277	PIGA	HP:0001419	X-linked recessive inheritance	-	OMIM:300868
5277	PIGA	HP:0001414	Microvesicular hepatic steatosis	1/2	OMIM:300868
5277	PIGA	HP:0001413	Micronodular cirrhosis	1/1	OMIM:300868
5277	PIGA	HP:0002714	Downturned corners of mouth	1/3	OMIM:300868
5277	PIGA	HP:0040303	Decreased circulating iron concentration	HP:0040282	ORPHA:447
5277	PIGA	HP:0005989	Redundant neck skin	1/1	OMIM:300868
5277	PIGA	HP:0002015	Dysphagia	HP:0040284	ORPHA:447
5277	PIGA	HP:0004673	Decreased facial expression	1/1	OMIM:300868
5277	PIGA	HP:0030903	Grasp reflex	1/1	OMIM:300868
5277	PIGA	HP:0100538	Abnormality of the supraorbital ridges	1/1	OMIM:300868
5277	PIGA	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:293181
5277	PIGA	HP:0002094	Dyspnea	HP:0040282	ORPHA:447
5277	PIGA	HP:0002090	Pneumonia	3/3	OMIM:300868
5277	PIGA	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:293181
5277	PIGA	HP:0002069	Bilateral tonic-clonic seizure	3/3	OMIM:300868
5277	PIGA	HP:0002063	Rigidity	1/1	OMIM:300868
5277	PIGA	HP:0002061	Lower limb spasticity	-	OMIM:300868
5277	PIGA	HP:0002078	Truncal ataxia	1/1	OMIM:300868
5277	PIGA	HP:0002079	Hypoplasia of the corpus callosum	9/9	OMIM:300868
5277	PIGA	HP:0002059	Cerebral atrophy	3/6	OMIM:301072
5277	PIGA	HP:0002059	Cerebral atrophy	2/2	OMIM:300868
5277	PIGA	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:293181
5277	PIGA	HP:0002056	Abnormality of the glabella	1/1	OMIM:300868
5277	PIGA	HP:0002139	Arrhinencephaly	1/1	OMIM:300868
5277	PIGA	HP:0003487	Babinski sign	2/6	OMIM:301072
5277	PIGA	HP:0003487	Babinski sign	1/1	OMIM:300868
5277	PIGA	HP:0002123	Generalized myoclonic seizure	8/8	OMIM:300868
5277	PIGA	HP:0002120	Cerebral cortical atrophy	2/2	OMIM:300868
5277	PIGA	HP:0003452	Increased circulating iron concentration	4/4	OMIM:301072
5277	PIGA	HP:0002119	Ventriculomegaly	2/2	OMIM:300868
5277	PIGA	HP:0002133	Status epilepticus	3/3	OMIM:300868
5277	PIGA	HP:0002133	Status epilepticus	1/5	OMIM:301072
5277	PIGA	HP:0003429	CNS hypomyelination	1/1	OMIM:300868
5277	PIGA	HP:0002104	Apnea	3/3	OMIM:300868
5277	PIGA	HP:0002187	Intellectual disability, profound	4/4	OMIM:300868
5277	PIGA	HP:0002197	Generalized-onset seizure	1/1	OMIM:300868
5277	PIGA	HP:0002179	Opisthotonus	2/2	OMIM:300868
5277	PIGA	HP:0002174	Postural tremor	1/1	OMIM:300868
5277	PIGA	HP:0002174	Postural tremor	1/6	OMIM:301072
5277	PIGA	HP:0002171	Gliosis	1/1	OMIM:300868
5277	PIGA	HP:0008282	Unconjugated hyperbilirubinemia	HP:0040282	ORPHA:447
5277	PIGA	HP:0002267	Exaggerated startle response	1/1	OMIM:300868
5277	PIGA	HP:0002266	Focal clonic seizure	1/1	OMIM:300868
5277	PIGA	HP:0003593	Infantile onset	6/6	OMIM:301072
5277	PIGA	HP:0003593	Infantile onset	10/10	OMIM:300868
5277	PIGA	HP:0003577	Congenital onset	3/3	OMIM:300868
5277	PIGA	HP:0002240	Hepatomegaly	3/6	OMIM:301072
5277	PIGA	HP:0002240	Hepatomegaly	2/2	OMIM:300868
5277	PIGA	HP:0100704	Cerebral visual impairment	3/3	OMIM:300868
5277	PIGA	HP:0100704	Cerebral visual impairment	4/6	OMIM:301072
5277	PIGA	HP:0002236	Frontal upsweep of hair	1/1	OMIM:300868
5277	PIGA	HP:0003581	Adult onset	-	OMIM:300818
5277	PIGA	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:447
5277	PIGA	HP:0200134	Epileptic encephalopathy	11/11	OMIM:300868
5277	PIGA	HP:0100749	Chest pain	HP:0040282	ORPHA:447
5277	PIGA	HP:0032043	Odynophagia	HP:0040283	ORPHA:447
5277	PIGA	HP:0011951	Aspiration pneumonia	1/1	OMIM:300868
5277	PIGA	HP:0011952	Acute aspiration pneumonia	1/1	OMIM:300868
5277	PIGA	HP:0011947	Respiratory tract infection	1/1	OMIM:300868
5277	PIGA	HP:0003517	Birth length greater than 97th percentile	-	OMIM:300868
5277	PIGA	HP:0004818	Paroxysmal nocturnal hemoglobinuria	-	OMIM:300818
5277	PIGA	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:293181
5277	PIGA	HP:0001051	Seborrheic dermatitis	HP:0040283	OMIM:300868
5277	PIGA	HP:0001051	Seborrheic dermatitis	4/6	OMIM:301072
5277	PIGA	HP:0002376	Developmental regression	HP:0040281	ORPHA:293181
5277	PIGA	HP:0002376	Developmental regression	1/6	OMIM:301072
5277	PIGA	HP:0002376	Developmental regression	HP:0040281	ORPHA:697160
5277	PIGA	HP:0002376	Developmental regression	3/3	OMIM:300868
5277	PIGA	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/1	OMIM:300868
5277	PIGA	HP:0002342	Intellectual disability, moderate	1/1	OMIM:300868
5277	PIGA	HP:0002315	Headache	HP:0040282	ORPHA:447
5277	PIGA	HP:0001000	Abnormality of skin pigmentation	-	OMIM:300868
5277	PIGA	HP:0010841	Multifocal epileptiform discharges	HP:0040281	ORPHA:293181
5277	PIGA	HP:0200034	Papule	1/1	OMIM:300868
5277	PIGA	HP:0010821	Focal emotional seizure with laughing	HP:0040282	ORPHA:293181
5277	PIGA	HP:0010818	Generalized tonic seizure	2/2	OMIM:300868
5277	PIGA	HP:0032147	Erythromelalgia	HP:0040282	ORPHA:447
5277	PIGA	HP:0003641	Hemoglobinuria	HP:0040281	ORPHA:447
5277	PIGA	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:447
5277	PIGA	HP:0020181	Reduced haptoglobin level	HP:0040282	ORPHA:447
5277	PIGA	HP:0007190	Neuronal loss in the cerebral cortex	1/1	OMIM:300868
5277	PIGA	HP:0032106	Conjunctival icterus	HP:0040282	ORPHA:447
5277	PIGA	HP:0031834	Aortopulmonary collateral arteries	HP:0040283	ORPHA:293181
5277	PIGA	HP:0030515	Moderately reduced visual acuity	1/1	OMIM:300868
5277	PIGA	HP:0006813	Focal hemiclonic seizure	HP:0040282	ORPHA:293181
5277	PIGA	HP:0031876	Decreased circulating hepcidin concentration	3/3	OMIM:301072
5277	PIGA	HP:0009085	Alveolar ridge overgrowth	2/2	OMIM:300868
5277	PIGA	HP:0006895	Lower limb hypertonia	1/6	OMIM:301072
5277	PIGA	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:447
5277	PIGA	HP:0000637	Long palpebral fissure	1/1	OMIM:300868
5277	PIGA	HP:0001923	Reticulocytosis	HP:0040282	ORPHA:447
5277	PIGA	HP:0001907	Thromboembolism	HP:0040282	ORPHA:447
5277	PIGA	HP:0001903	Anemia	HP:0040281	ORPHA:447
5277	PIGA	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:447
5277	PIGA	HP:0000684	Delayed eruption of teeth	2/2	OMIM:300868
5277	PIGA	HP:0000674	Anodontia	1/1	OMIM:300868
5277	PIGA	HP:0000691	Microdontia	1/1	OMIM:300868
5277	PIGA	HP:0000691	Microdontia	3/6	OMIM:301072
5277	PIGA	HP:0011330	Metopic synostosis	1/2	OMIM:300868
5277	PIGA	HP:0000687	Widely spaced teeth	1/1	OMIM:300868
5277	PIGA	HP:0000687	Widely spaced teeth	4/6	OMIM:301072
5277	PIGA	HP:0001994	Renal Fanconi syndrome	HP:0040284	ORPHA:447
5277	PIGA	HP:0004322	Short stature	1/1	OMIM:300868
5277	PIGA	HP:0006994	Diffuse leukoencephalopathy	1/1	OMIM:300868
5277	PIGA	HP:0006986	Upper limb spasticity	-	OMIM:300868
5277	PIGA	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:293181
5277	PIGA	HP:0006956	Lateral ventricle dilatation	1/2	OMIM:300868
5277	PIGA	HP:0004308	Ventricular arrhythmia	1/1	OMIM:300868
5277	PIGA	HP:0003076	Glycosuria	HP:0040284	ORPHA:447
5277	PIGA	HP:0000802	Impotence	HP:0040283	ORPHA:447
5277	PIGA	HP:0012745	Short palpebral fissure	1/1	OMIM:300868
5277	PIGA	HP:0012736	Profound global developmental delay	1/1	OMIM:300868
5277	PIGA	HP:0012704	Widened subarachnoid space	1/1	OMIM:300868
5277	PIGA	HP:0000717	Autism	2/2	OMIM:300868
5277	PIGA	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:697160
5277	PIGA	HP:0011461	Fetal onset	2/2	OMIM:300868
5277	PIGA	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:293181
5277	PIGA	HP:0004446	Stomatocytosis	1/1	OMIM:300868
5277	PIGA	HP:0003121	Limb joint contracture	1/1	OMIM:300868
5277	PIGA	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:447
5277	PIGA	HP:0040130	Abnormal circulating iron concentration	1/1	OMIM:300868
5277	PIGA	HP:0003155	Elevated circulating alkaline phosphatase concentration	7/8	OMIM:300868
5277	PIGA	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/3	OMIM:301072
5277	PIGA	HP:0003138	Increased blood urea nitrogen	HP:0040282	ORPHA:447
5277	PIGA	HP:0000817	Reduced eye contact	2/2	OMIM:300868
5277	PIGA	HP:0000826	Precocious puberty	HP:0040284	ORPHA:293181
5277	PIGA	HP:0000822	Hypertension	HP:0040283	ORPHA:447
5277	PIGA	HP:0003202	Skeletal muscle atrophy	1/1	OMIM:300868
5277	PIGA	HP:0003273	Hip contracture	1/2	OMIM:300868
5277	PIGA	HP:0003270	Abdominal distention	1/1	OMIM:300868
5277	PIGA	HP:0003281	Increased circulating ferritin concentration	1/1	OMIM:300868
5277	PIGA	HP:0003281	Increased circulating ferritin concentration	3/4	OMIM:301072
5277	PIGA	HP:0000980	Pallor	1/1	OMIM:300868
5277	PIGA	HP:0000952	Jaundice	HP:0040283	ORPHA:447
5277	PIGA	HP:0000969	Edema	1/1	OMIM:300868
5277	PIGA	HP:0040134	Abnormal hepatic iron concentration	1/1	OMIM:300868
5277	PIGA	HP:0008064	Ichthyosis	HP:0040283	OMIM:300868
5277	PIGA	HP:0008064	Ichthyosis	4/6	OMIM:301072
5277	PIGA	HP:0009381	Short finger	1/1	OMIM:300868
5277	PIGA	HP:0040194	Increased head circumference	-	OMIM:300868
5277	PIGA	HP:0000288	Abnormality of the philtrum	1/1	OMIM:300868
5277	PIGA	HP:0000280	Coarse facial features	1/6	OMIM:301072
5277	PIGA	HP:0000280	Coarse facial features	1/1	OMIM:300868
5277	PIGA	HP:0000256	Macrocephaly	-	OMIM:300868
5277	PIGA	HP:0000271	Abnormality of the face	6/6	OMIM:300868
5277	PIGA	HP:0000272	Malar flattening	1/3	OMIM:300868
5277	PIGA	HP:0000269	Prominent occiput	1/2	OMIM:300868
5277	PIGA	HP:0006380	Knee flexion contracture	1/2	OMIM:300868
5277	PIGA	HP:0000239	Large fontanelles	1/2	OMIM:300868
5277	PIGA	HP:0000252	Microcephaly	HP:0040283	OMIM:300868
5277	PIGA	HP:0000252	Microcephaly	HP:0040282	ORPHA:293181
5277	PIGA	HP:0000252	Microcephaly	2/6	OMIM:301072
5277	PIGA	HP:0000248	Brachycephaly	2/2	OMIM:300868
5277	PIGA	HP:0001548	Overgrowth	-	OMIM:300868
5277	PIGA	HP:0001548	Overgrowth	1/6	OMIM:301072
5277	PIGA	HP:0002878	Respiratory failure	1/2	OMIM:300868
5277	PIGA	HP:0000218	High palate	1/2	OMIM:300868
5277	PIGA	HP:0000212	Gingival overgrowth	1/2	OMIM:300868
5277	PIGA	HP:0000212	Gingival overgrowth	3/6	OMIM:301072
5277	PIGA	HP:0001561	Polyhydramnios	4/5	OMIM:300868
5277	PIGA	HP:0000233	Thin vermilion border	1/1	OMIM:300868
5277	PIGA	HP:0001522	Death in infancy	2/2	OMIM:300868
5277	PIGA	HP:0001541	Ascites	1/1	OMIM:300868
5277	PIGA	HP:0000207	Triangular mouth	-	OMIM:300868
5277	PIGA	HP:0000201	Pierre-Robin sequence	1/7	OMIM:300868
5277	PIGA	HP:0001508	Failure to thrive	HP:0040283	ORPHA:293181
5277	PIGA	HP:0002835	Aspiration	1/1	OMIM:300868
5277	PIGA	HP:0001520	Large for gestational age	1/1	OMIM:300868
5277	PIGA	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:293181
5277	PIGA	HP:0012385	Camptodactyly	1/1	OMIM:300868
5277	PIGA	HP:0000396	Overfolded helix	1/2	OMIM:300868
5277	PIGA	HP:0005257	Thoracic hypoplasia	1/2	OMIM:300868
5277	PIGA	HP:0000365	Hearing impairment	2/6	OMIM:301072
5277	PIGA	HP:0000365	Hearing impairment	3/3	OMIM:300868
5277	PIGA	HP:0001695	Cardiac arrest	1/1	OMIM:300868
5277	PIGA	HP:0000337	Broad forehead	1/1	OMIM:300868
5277	PIGA	HP:0001667	Right ventricular hypertrophy	1/1	OMIM:300868
5277	PIGA	HP:0000347	Micrognathia	-	OMIM:300868
5277	PIGA	HP:0032794	Myoclonic seizure	HP:0040282	ORPHA:293181
5277	PIGA	HP:0000316	Hypertelorism	3/3	OMIM:300868
5277	PIGA	HP:0001643	Patent ductus arteriosus	1/2	OMIM:300868
5277	PIGA	HP:0000311	Round face	1/1	OMIM:300868
5277	PIGA	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:447
5277	PIGA	HP:0002987	Elbow flexion contracture	1/2	OMIM:300868
5277	PIGA	HP:0000324	Facial asymmetry	1/1	OMIM:300868
5277	PIGA	HP:0001623	Breech presentation	2/3	OMIM:300868
5277	PIGA	HP:0001631	Atrial septal defect	2/3	OMIM:300868
5277	PIGA	HP:0011168	Focal seizure with eyelid myoclonia	1/1	OMIM:300868
5277	PIGA	HP:0001712	Left ventricular hypertrophy	1/1	OMIM:300868
5277	PIGA	HP:0005280	Depressed nasal bridge	3/5	OMIM:300868
5277	PIGA	HP:0012469	Infantile spasms	HP:0040281	ORPHA:697160
5277	PIGA	HP:0012469	Infantile spasms	3/6	OMIM:300868
5277	PIGA	HP:0000496	Abnormality of eye movement	2/2	OMIM:300868
5277	PIGA	HP:0011129	Bilateral fetal pyelectasis	1/2	OMIM:300868
5277	PIGA	HP:0012463	Elevated transferrin saturation	4/4	OMIM:301072
5277	PIGA	HP:0012465	Elevated hepatic iron concentration	-	OMIM:300868
5277	PIGA	HP:0012465	Elevated hepatic iron concentration	1/1	OMIM:301072
5277	PIGA	HP:0001792	Small nail	1/2	OMIM:300868
5277	PIGA	HP:0000463	Anteverted nares	3/4	OMIM:300868
5277	PIGA	HP:0012448	Delayed myelination	HP:0040283	ORPHA:293181
5277	PIGA	HP:0012448	Delayed myelination	-	OMIM:300868
5277	PIGA	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:697160
5277	PIGA	HP:0001789	Hydrops fetalis	-	OMIM:300868
5277	PIGA	HP:0030248	Mesenteric venous thrombosis	HP:0040283	ORPHA:447
5277	PIGA	HP:0000474	Thickened nuchal skin fold	1/1	OMIM:300868
5277	PIGA	HP:0000470	Short neck	1/2	OMIM:300868
5277	PIGA	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	1/1	OMIM:300868
5277	PIGA	HP:0012430	Cerebral white matter hypoplasia	4/4	OMIM:300868
5277	PIGA	HP:0030272	Abnormal erythrocyte enzyme concentration or activity	HP:0040280	ORPHA:447
5277	PIGA	HP:0001744	Splenomegaly	3/6	OMIM:301072
5277	PIGA	HP:0001744	Splenomegaly	1/1	OMIM:300868
5277	PIGA	HP:0001760	Abnormal foot morphology	1/1	OMIM:300868
5277	PIGA	HP:0005484	Secondary microcephaly	3/3	OMIM:300868
5277	PIGA	HP:0005469	Flat occiput	1/1	OMIM:300868
5277	PIGA	HP:0000505	Visual impairment	HP:0040283	ORPHA:293181
5277	PIGA	HP:0000582	Upslanted palpebral fissure	2/3	OMIM:300868
5277	PIGA	HP:0012543	Hemosiderinuria	HP:0040282	ORPHA:447
5277	PIGA	HP:0000556	Retinal dystrophy	1/1	OMIM:300868
5277	PIGA	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:447
5277	PIGA	HP:0001878	Hemolytic anemia	HP:0040281	ORPHA:447
5277	PIGA	HP:0000543	Optic disc pallor	1/1	OMIM:300868
5277	PIGA	HP:0001873	Thrombocytopenia	1/6	OMIM:301072
5277	PIGA	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:447
5277	PIGA	HP:0001873	Thrombocytopenia	1/1	OMIM:300868
5277	PIGA	HP:0001876	Pancytopenia	HP:0040283	ORPHA:447
5277	PIGA	HP:0000545	Myopia	1/1	OMIM:300868
5279	PIGC	HP:0002465	Poor speech	3/3	OMIM:617816
5279	PIGC	HP:0001250	Seizure	3/3	OMIM:617816
5279	PIGC	HP:0001249	Intellectual disability	3/3	OMIM:617816
5279	PIGC	HP:0001263	Global developmental delay	3/3	OMIM:617816
5279	PIGC	HP:0000007	Autosomal recessive inheritance	-	OMIM:617816
5279	PIGC	HP:0003593	Infantile onset	3/3	OMIM:617816
5279	PIGC	HP:0031936	Delayed ability to walk	3/3	OMIM:617816
5279	PIGC	HP:0003155	Elevated circulating alkaline phosphatase concentration	0/3	OMIM:617816
5281	PIGF	HP:0010864	Intellectual disability, severe	2/2	OMIM:619356
5281	PIGF	HP:0009882	Short distal phalanx of finger	1/2	OMIM:619356
5281	PIGF	HP:0002421	Poor head control	1/2	OMIM:619356
5281	PIGF	HP:0001263	Global developmental delay	2/2	OMIM:619356
5281	PIGF	HP:0031061	Impaired toileting ability	1/2	OMIM:619356
5281	PIGF	HP:0001344	Absent speech	1/2	OMIM:619356
5281	PIGF	HP:0000007	Autosomal recessive inheritance	-	OMIM:619356
5281	PIGF	HP:0000194	Open mouth	1/2	OMIM:619356
5281	PIGF	HP:0012168	Head-banging	1/2	OMIM:619356
5281	PIGF	HP:0000160	Narrow mouth	1/2	OMIM:619356
5281	PIGF	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:619356
5281	PIGF	HP:0003577	Congenital onset	2/2	OMIM:619356
5281	PIGF	HP:0200105	Absent fifth toenail	1/2	OMIM:619356
5281	PIGF	HP:0008398	Hypoplastic fifth fingernail	2/2	OMIM:619356
5281	PIGF	HP:0000696	Delayed eruption of permanent teeth	1/2	OMIM:619356
5281	PIGF	HP:0000691	Microdontia	1/2	OMIM:619356
5281	PIGF	HP:0004379	Abnormality of alkaline phosphatase level	0/2	OMIM:619356
5281	PIGF	HP:0005707	Bilateral triphalangeal thumbs	1/2	OMIM:619356
5281	PIGF	HP:0003196	Short nose	1/2	OMIM:619356
5281	PIGF	HP:0000826	Precocious puberty	1/2	OMIM:619356
5281	PIGF	HP:0000280	Coarse facial features	1/2	OMIM:619356
5281	PIGF	HP:0000252	Microcephaly	1/2	OMIM:619356
5281	PIGF	HP:0000347	Micrognathia	1/2	OMIM:619356
5281	PIGF	HP:0001631	Atrial septal defect	1/2	OMIM:619356
5281	PIGF	HP:0000463	Anteverted nares	1/2	OMIM:619356
5281	PIGF	HP:0001857	Short distal phalanx of toe	1/2	OMIM:619356
5281	PIGF	HP:0001804	Hypoplastic fingernail	1/2	OMIM:619356
5281	PIGF	HP:0001800	Hypoplastic toenails	2/2	OMIM:619356
5281	PIGF	HP:0012553	Hypoplastic thumbnail	2/2	OMIM:619356
5283	PIGH	HP:0002465	Poor speech	-	OMIM:618010
5283	PIGH	HP:0001290	Generalized hypotonia	-	OMIM:618010
5283	PIGH	HP:0001250	Seizure	2/2	OMIM:618010
5283	PIGH	HP:0001263	Global developmental delay	HP:0040284	OMIM:618010
5283	PIGH	HP:0001328	Specific learning disability	-	OMIM:618010
5283	PIGH	HP:0000007	Autosomal recessive inheritance	-	OMIM:618010
5283	PIGH	HP:0002754	Osteomyelitis	1/2	OMIM:618010
5283	PIGH	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:618010
5283	PIGH	HP:0002155	Hypertriglyceridemia	1/2	OMIM:618010
5283	PIGH	HP:0002123	Generalized myoclonic seizure	1/2	OMIM:618010
5283	PIGH	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/2	OMIM:618010
5283	PIGH	HP:0004209	Clinodactyly of the 5th finger	1/2	OMIM:618010
5283	PIGH	HP:0006989	Dysplastic corpus callosum	2/2	OMIM:618010
5283	PIGH	HP:0004379	Abnormality of alkaline phosphatase level	0/2	OMIM:618010
5283	PIGH	HP:0100025	Overfriendliness	1/2	OMIM:618010
5283	PIGH	HP:0000718	Aggressive behavior	2/2	OMIM:618010
5283	PIGH	HP:0011463	Childhood onset	2/2	OMIM:618010
5283	PIGH	HP:0000958	Dry skin	1/2	OMIM:618010
5283	PIGH	HP:0000252	Microcephaly	1/2	OMIM:618010
5283	PIGH	HP:0000218	High palate	-	OMIM:618010
5283	PIGH	HP:0025510	Nevus spilus	1/2	OMIM:618010
5283	PIGH	HP:0001510	Growth delay	-	OMIM:618010
5283	PIGH	HP:0000389	Chronic otitis media	1/2	OMIM:618010
5283	PIGH	HP:0031703	Abnormal ear morphology	-	OMIM:618010
5283	PIGH	HP:0001864	Clinodactyly of the 5th toe	1/2	OMIM:618010
5286	PIK3C2A	HP:0009928	Thick nasal alae	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0001297	Stroke	HP:0040282	ORPHA:557003
5286	PIK3C2A	HP:0001263	Global developmental delay	2/2	OMIM:618440
5286	PIK3C2A	HP:0100864	Short femoral neck	-	OMIM:618440
5286	PIK3C2A	HP:0032325	Lacunar stroke	1/3	OMIM:618440
5286	PIK3C2A	HP:0000028	Cryptorchidism	1/2	OMIM:618440
5286	PIK3C2A	HP:0001328	Specific learning disability	HP:0040282	ORPHA:557003
5286	PIK3C2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:618440
5286	PIK3C2A	HP:0002650	Scoliosis	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0002650	Scoliosis	5/5	OMIM:618440
5286	PIK3C2A	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:557003
5286	PIK3C2A	HP:0000158	Macroglossia	-	OMIM:618440
5286	PIK3C2A	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0000121	Nephrocalcinosis	HP:0040282	ORPHA:557003
5286	PIK3C2A	HP:0000104	Renal agenesis	HP:0040284	OMIM:618440
5286	PIK3C2A	HP:0002750	Delayed skeletal maturation	2/3	OMIM:618440
5286	PIK3C2A	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0008155	Mucopolysacchariduria	3/3	OMIM:618440
5286	PIK3C2A	HP:0002150	Hypercalciuria	-	OMIM:618440
5286	PIK3C2A	HP:0002162	Low posterior hairline	-	OMIM:618440
5286	PIK3C2A	HP:0002243	Protein-losing enteropathy	-	OMIM:618440
5286	PIK3C2A	HP:0002240	Hepatomegaly	-	OMIM:618440
5286	PIK3C2A	HP:0007042	Focal white matter lesions	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0010663	Abnormal thalamus morphology	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0010761	Broad columella	3/6	OMIM:618440
5286	PIK3C2A	HP:0010761	Broad columella	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0002300	Mutism	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0000677	Oligodontia	2/3	OMIM:618440
5286	PIK3C2A	HP:0000677	Oligodontia	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0000691	Microdontia	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:557003
5286	PIK3C2A	HP:0006989	Dysplastic corpus callosum	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0004322	Short stature	HP:0040282	ORPHA:557003
5286	PIK3C2A	HP:0004322	Short stature	5/5	OMIM:618440
5286	PIK3C2A	HP:0003072	Hypercalcemia	-	OMIM:618440
5286	PIK3C2A	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:557003
5286	PIK3C2A	HP:0000766	Abnormal sternum morphology	-	OMIM:618440
5286	PIK3C2A	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:557003
5286	PIK3C2A	HP:0003090	Hypoplasia of the capital femoral epiphysis	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0000821	Hypothyroidism	2/3	OMIM:618440
5286	PIK3C2A	HP:0009237	Short 5th finger	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0100255	Metaphyseal dysplasia	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0000286	Epicanthus	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0000286	Epicanthus	-	OMIM:618440
5286	PIK3C2A	HP:0000280	Coarse facial features	3/3	OMIM:618440
5286	PIK3C2A	HP:0000280	Coarse facial features	HP:0040282	ORPHA:557003
5286	PIK3C2A	HP:0000278	Retrognathia	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0000294	Low anterior hairline	-	OMIM:618440
5286	PIK3C2A	HP:0030084	Clinodactyly	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0001518	Small for gestational age	-	OMIM:618440
5286	PIK3C2A	HP:0005257	Thoracic hypoplasia	-	OMIM:618440
5286	PIK3C2A	HP:0002942	Thoracic kyphosis	-	OMIM:618440
5286	PIK3C2A	HP:0002942	Thoracic kyphosis	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0002901	Hypocalcemia	-	OMIM:618440
5286	PIK3C2A	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0000365	Hearing impairment	HP:0040282	ORPHA:557003
5286	PIK3C2A	HP:0000365	Hearing impairment	3/5	OMIM:618440
5286	PIK3C2A	HP:0011020	Abnormality of mucopolysaccharide metabolism	HP:0040282	ORPHA:557003
5286	PIK3C2A	HP:0002987	Elbow flexion contracture	-	OMIM:618440
5286	PIK3C2A	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0001744	Splenomegaly	-	OMIM:618440
5286	PIK3C2A	HP:0000431	Wide nasal bridge	2/3	OMIM:618440
5286	PIK3C2A	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:557003
5286	PIK3C2A	HP:0000519	Developmental cataract	5/5	OMIM:618440
5286	PIK3C2A	HP:0000519	Developmental cataract	HP:0040282	ORPHA:557003
5286	PIK3C2A	HP:0000501	Glaucoma	4/5	OMIM:618440
5286	PIK3C2A	HP:0000501	Glaucoma	HP:0040282	ORPHA:557003
5286	PIK3C2A	HP:0000599	Abnormality of the frontal hairline	HP:0040282	ORPHA:557003
5290	PIK3CA	HP:0001169	Broad palm	HP:0040282	ORPHA:140944
5290	PIK3CA	HP:0001156	Brachydactyly	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0001161	Hand polydactyly	HP:0040281	ORPHA:60040
5290	PIK3CA	HP:0001159	Syndactyly	-	OMIM:602501
5290	PIK3CA	HP:0025104	Capillary malformation	4/4	OMIM:612918
5290	PIK3CA	HP:0025104	Capillary malformation	HP:0040282	ORPHA:314662
5290	PIK3CA	HP:0025104	Capillary malformation	HP:0040281	ORPHA:140944
5290	PIK3CA	HP:0002475	Myelomeningocele	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0002435	Meningocele	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0001123	Visual field defect	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:99802
5290	PIK3CA	HP:0008551	Microtia	HP:0040283	ORPHA:276280
5290	PIK3CA	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:99802
5290	PIK3CA	HP:0002414	Spina bifida	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0003745	Sporadic	-	OMIM:612918
5290	PIK3CA	HP:0003745	Sporadic	-	OMIM:602501
5290	PIK3CA	HP:0003764	Nevus	HP:0040283	ORPHA:276280
5290	PIK3CA	HP:0001102	Angioid streaks of the fundus	-	OMIM:615108
5290	PIK3CA	HP:0033522	Cerebral cavernous malformation	-	OMIM:619538
5290	PIK3CA	HP:0033522	Cerebral cavernous malformation	HP:0040280	ORPHA:221061
5290	PIK3CA	HP:0001290	Generalized hypotonia	-	OMIM:602501
5290	PIK3CA	HP:0001276	Hypertonia	HP:0040282	ORPHA:144
5290	PIK3CA	HP:0001269	Hemiparesis	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0001269	Hemiparesis	HP:0040283	ORPHA:99802
5290	PIK3CA	HP:0001288	Gait disturbance	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0001288	Gait disturbance	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0001288	Gait disturbance	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0001279	Syncope	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0001256	Intellectual disability, mild	12%	OMIM:615108
5290	PIK3CA	HP:0001250	Seizure	HP:0040281	ORPHA:99802
5290	PIK3CA	HP:0001250	Seizure	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0001250	Seizure	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0001250	Seizure	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0001250	Seizure	-	OMIM:615108
5290	PIK3CA	HP:0001250	Seizure	HP:0040282	ORPHA:144
5290	PIK3CA	HP:0001250	Seizure	-	OMIM:602501
5290	PIK3CA	HP:0001250	Seizure	HP:0040281	ORPHA:221061
5290	PIK3CA	HP:0001252	Hypotonia	HP:0040282	ORPHA:60040
5290	PIK3CA	HP:0001252	Hypotonia	HP:0040282	ORPHA:144
5290	PIK3CA	HP:0001252	Hypotonia	-	OMIM:602501
5290	PIK3CA	HP:0001251	Ataxia	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0001251	Ataxia	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0001249	Intellectual disability	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0001249	Intellectual disability	-	ORPHA:168984
5290	PIK3CA	HP:0001249	Intellectual disability	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0001249	Intellectual disability	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0001249	Intellectual disability	HP:0040282	ORPHA:60040
5290	PIK3CA	HP:0001249	Intellectual disability	12%	OMIM:615108
5290	PIK3CA	HP:0001249	Intellectual disability	-	OMIM:602501
5290	PIK3CA	HP:0001260	Dysarthria	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0001263	Global developmental delay	HP:0040282	ORPHA:99802
5290	PIK3CA	HP:0001263	Global developmental delay	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0001263	Global developmental delay	HP:0040282	ORPHA:60040
5290	PIK3CA	HP:0001263	Global developmental delay	-	OMIM:602501
5290	PIK3CA	HP:0001262	Excessive daytime somnolence	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0002572	Episodic vomiting	HP:0040283	ORPHA:221061
5290	PIK3CA	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:60040
5290	PIK3CA	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:60040
5290	PIK3CA	HP:0010997	Chromosomal breakage induced by ionizing radiation	HP:0040281	ORPHA:2495
5290	PIK3CA	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0008675	Enlarged polycystic ovaries	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:144
5290	PIK3CA	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:221061
5290	PIK3CA	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0002512	Brain stem compression	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0000089	Renal hypoplasia	2/6	OMIM:612918
5290	PIK3CA	HP:0000098	Tall stature	HP:0040282	ORPHA:90308
5290	PIK3CA	HP:0000098	Tall stature	HP:0040283	ORPHA:168984
5290	PIK3CA	HP:0025373	Interictal EEG abnormality	HP:0040281	ORPHA:99802
5290	PIK3CA	HP:0012062	Bone cyst	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0025352	Typically de novo	-	OMIM:619538
5290	PIK3CA	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0001371	Flexion contracture	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0012032	Lipoma	6/6	OMIM:612918
5290	PIK3CA	HP:0012032	Lipoma	HP:0040282	ORPHA:314662
5290	PIK3CA	HP:0012032	Lipoma	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0000036	Abnormal penis morphology	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0001385	Hip dysplasia	HP:0040284	ORPHA:140944
5290	PIK3CA	HP:0001382	Joint hypermobility	-	OMIM:602501
5290	PIK3CA	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:60040
5290	PIK3CA	HP:0001355	Megalencephaly	-	OMIM:602501
5290	PIK3CA	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0000034	Hydrocele testis	HP:0040283	ORPHA:276280
5290	PIK3CA	HP:0000034	Hydrocele testis	HP:0040283	ORPHA:314662
5290	PIK3CA	HP:0000034	Hydrocele testis	-	OMIM:615108
5290	PIK3CA	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0002664	Neoplasm	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0002664	Neoplasm	HP:0040283	ORPHA:60040
5290	PIK3CA	HP:0001324	Muscle weakness	HP:0040282	ORPHA:221061
5290	PIK3CA	HP:0001342	Cerebral hemorrhage	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0001342	Cerebral hemorrhage	HP:0040281	ORPHA:221061
5290	PIK3CA	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0002667	Nephroblastoma	1/6	OMIM:612918
5290	PIK3CA	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:276280
5290	PIK3CA	HP:0002667	Nephroblastoma	-	OMIM:602501
5290	PIK3CA	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:140944
5290	PIK3CA	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
5290	PIK3CA	HP:0000006	Autosomal dominant inheritance	-	OMIM:619538
5290	PIK3CA	HP:0000006	Autosomal dominant inheritance	-	OMIM:615108
5290	PIK3CA	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
5290	PIK3CA	HP:0000006	Autosomal dominant inheritance	-	OMIM:167000
5290	PIK3CA	HP:0000006	Autosomal dominant inheritance	-	OMIM:211980
5290	PIK3CA	HP:0001336	Myoclonus	HP:0040283	ORPHA:99802
5290	PIK3CA	HP:0033748	Hypoesthesia	HP:0040282	ORPHA:221061
5290	PIK3CA	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:60040
5290	PIK3CA	HP:0001302	Pachygyria	HP:0040283	ORPHA:99802
5290	PIK3CA	HP:0002650	Scoliosis	HP:0040283	ORPHA:276280
5290	PIK3CA	HP:0002650	Scoliosis	HP:0040282	ORPHA:221061
5290	PIK3CA	HP:0002650	Scoliosis	4/6	OMIM:612918
5290	PIK3CA	HP:0002650	Scoliosis	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0002650	Scoliosis	HP:0040282	ORPHA:140944
5290	PIK3CA	HP:0002650	Scoliosis	-	OMIM:615108
5290	PIK3CA	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0002619	Varicose veins	-	OMIM:613089
5290	PIK3CA	HP:0002619	Varicose veins	HP:0040282	ORPHA:168984
5290	PIK3CA	HP:0002624	Abnormal venous morphology	HP:0040283	ORPHA:276280
5290	PIK3CA	HP:0033794	Acral overgrowth	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:144
5290	PIK3CA	HP:0025476	Testicular lipomatosis	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0000160	Narrow mouth	-	OMIM:615108
5290	PIK3CA	HP:0000158	Macroglossia	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0000141	Amenorrhea	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0000140	Abnormality of the menstrual cycle	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0012126	Stomach cancer	-	OMIM:613659
5290	PIK3CA	HP:0000138	Ovarian cyst	-	OMIM:615108
5290	PIK3CA	HP:0000154	Wide mouth	HP:0040281	ORPHA:60040
5290	PIK3CA	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0012118	Laryngeal carcinoma	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0410067	Increased level of L-fucose in urine	-	OMIM:613659
5290	PIK3CA	HP:0031287	Seborrheic keratosis	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0031287	Seborrheic keratosis	-	OMIM:182000
5290	PIK3CA	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0001442	Typified by somatic mosaicism	-	OMIM:612918
5290	PIK3CA	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
5290	PIK3CA	HP:0001442	Typified by somatic mosaicism	6/6	OMIM:155500
5290	PIK3CA	HP:0001442	Typified by somatic mosaicism	-	OMIM:114550
5290	PIK3CA	HP:0001442	Typified by somatic mosaicism	-	OMIM:613089
5290	PIK3CA	HP:0001442	Typified by somatic mosaicism	-	OMIM:167000
5290	PIK3CA	HP:0001442	Typified by somatic mosaicism	-	OMIM:613659
5290	PIK3CA	HP:0001442	Typified by somatic mosaicism	-	OMIM:602501
5290	PIK3CA	HP:0001442	Typified by somatic mosaicism	-	OMIM:182000
5290	PIK3CA	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
5290	PIK3CA	HP:0001442	Typified by somatic mosaicism	-	OMIM:211980
5290	PIK3CA	HP:0001442	Typified by somatic mosaicism	-	OMIM:606773
5290	PIK3CA	HP:0001442	Typified by somatic mosaicism	20/20	OMIM:162900
5290	PIK3CA	HP:0000107	Renal cyst	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0000105	Enlarged kidney	HP:0040283	ORPHA:276280
5290	PIK3CA	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0001402	Hepatocellular carcinoma	-	OMIM:114550
5290	PIK3CA	HP:0001413	Micronodular cirrhosis	-	OMIM:114550
5290	PIK3CA	HP:0002024	Malabsorption	HP:0040281	ORPHA:144
5290	PIK3CA	HP:0002019	Constipation	HP:0040281	ORPHA:144
5290	PIK3CA	HP:0002019	Constipation	HP:0040283	ORPHA:314662
5290	PIK3CA	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:144
5290	PIK3CA	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0002027	Abdominal pain	HP:0040281	ORPHA:144
5290	PIK3CA	HP:0002007	Frontal bossing	HP:0040282	ORPHA:60040
5290	PIK3CA	HP:0100553	Hemihypertrophy of lower limb	HP:0040282	ORPHA:168984
5290	PIK3CA	HP:0002080	Intention tremor	-	OMIM:615108
5290	PIK3CA	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:221061
5290	PIK3CA	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0100560	Upper limb asymmetry	HP:0040281	ORPHA:90308
5290	PIK3CA	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0100561	Spinal cord lesion	HP:0040283	ORPHA:221061
5290	PIK3CA	HP:0100554	Hemihypertrophy of upper limb	HP:0040282	ORPHA:168984
5290	PIK3CA	HP:0100555	Asymmetric growth	HP:0040281	ORPHA:60040
5290	PIK3CA	HP:0100555	Asymmetric growth	HP:0040282	ORPHA:140944
5290	PIK3CA	HP:0100555	Asymmetric growth	HP:0040282	ORPHA:168984
5290	PIK3CA	HP:0100559	Lower limb asymmetry	5/5	OMIM:612918
5290	PIK3CA	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:314662
5290	PIK3CA	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0100559	Lower limb asymmetry	HP:0040281	ORPHA:90308
5290	PIK3CA	HP:0002076	Migraine	HP:0040282	ORPHA:144
5290	PIK3CA	HP:0010442	Polydactyly	-	OMIM:602501
5290	PIK3CA	HP:0010442	Polydactyly	HP:0040283	ORPHA:314662
5290	PIK3CA	HP:0010442	Polydactyly	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0011752	Neoplasm of the posterior pituitary	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0011750	Neoplasm of the anterior pituitary	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0011730	Abnormal central sensory function	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0100585	Telangiectasia of the skin	HP:0040283	ORPHA:276280
5290	PIK3CA	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:60040
5290	PIK3CA	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:276280
5290	PIK3CA	HP:0100578	Lipoatrophy	HP:0040282	ORPHA:314662
5290	PIK3CA	HP:0100579	Mucosal telangiectasiae	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0008163	Decreased circulating cortisol level	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0009487	Ulnar deviation of the hand	HP:0040282	ORPHA:140944
5290	PIK3CA	HP:0002144	Tethered cord	HP:0040283	OMIM:612918
5290	PIK3CA	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0002119	Ventriculomegaly	-	OMIM:602501
5290	PIK3CA	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:99802
5290	PIK3CA	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:60040
5290	PIK3CA	HP:0002133	Status epilepticus	HP:0040283	ORPHA:99802
5290	PIK3CA	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:99802
5290	PIK3CA	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:60040
5290	PIK3CA	HP:0002126	Polymicrogyria	-	OMIM:602501
5290	PIK3CA	HP:0003418	Back pain	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0010609	Skin tags	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0010609	Skin tags	-	OMIM:615108
5290	PIK3CA	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0002167	Abnormal speech pattern	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0002171	Gliosis	HP:0040283	ORPHA:99802
5290	PIK3CA	HP:0009588	Vestibular schwannoma	HP:0040284	ORPHA:221061
5290	PIK3CA	HP:0008240	Secondary growth hormone deficiency	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0008237	Hypothalamic hypothyroidism	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0010534	Transient global amnesia	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0010526	Dysgraphia	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0008214	Decreased serum estradiol	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0010512	Adrenal calcification	HP:0040284	ORPHA:221061
5290	PIK3CA	HP:0011842	Abnormal skeletal morphology	HP:0040281	ORPHA:90308
5290	PIK3CA	HP:0008202	Reduced circulating prolactin concentration	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0003401	Paresthesia	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0003401	Paresthesia	HP:0040282	ORPHA:221061
5290	PIK3CA	HP:0009592	Astrocytoma	HP:0040284	ORPHA:221061
5290	PIK3CA	HP:0003577	Congenital onset	5/5	OMIM:606773
5290	PIK3CA	HP:0003577	Congenital onset	6/6	OMIM:612918
5290	PIK3CA	HP:0003577	Congenital onset	6/6	OMIM:155500
5290	PIK3CA	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:144
5290	PIK3CA	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:90308
5290	PIK3CA	HP:0002253	Colonic diverticula	-	OMIM:615108
5290	PIK3CA	HP:0003581	Adult onset	-	OMIM:615108
5290	PIK3CA	HP:0002204	Pulmonary embolism	HP:0040282	ORPHA:90308
5290	PIK3CA	HP:0100766	Abnormal lymphatic vessel morphology	HP:0040282	ORPHA:140944
5290	PIK3CA	HP:0100763	Abnormality of the lymphatic system	HP:0040283	ORPHA:276280
5290	PIK3CA	HP:0100764	Lymphangioma	HP:0040281	ORPHA:168984
5290	PIK3CA	HP:0009748	Large earlobe	-	OMIM:602501
5290	PIK3CA	HP:0010714	2-4 toe syndactyly	HP:0040283	ORPHA:276280
5290	PIK3CA	HP:0100780	Conjunctival hamartoma	HP:0040281	ORPHA:201
5290	PIK3CA	HP:0100784	Peripheral arteriovenous fistula	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0100774	Hyperostosis	HP:0040282	ORPHA:314662
5290	PIK3CA	HP:0100790	Hernia	-	OMIM:602501
5290	PIK3CA	HP:0009720	Adenoma sebaceum	HP:0040281	ORPHA:144
5290	PIK3CA	HP:0009720	Adenoma sebaceum	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0009726	Renal neoplasm	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0100724	Hypercoagulability	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0002282	Gray matter heterotopia	HP:0040283	ORPHA:99802
5290	PIK3CA	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:144
5290	PIK3CA	HP:0100761	Visceral angiomatosis	HP:0040281	ORPHA:60040
5290	PIK3CA	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:144
5290	PIK3CA	HP:0032046	Focal cortical dysplasia	HP:0040282	ORPHA:99802
5290	PIK3CA	HP:0010628	Facial palsy	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0010614	Fibroma	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0430028	Hyperplasia of the maxilla	HP:0040282	ORPHA:140944
5290	PIK3CA	HP:0002389	Cavum septum pellucidum	-	OMIM:602501
5290	PIK3CA	HP:0001052	Nevus flammeus	HP:0040281	ORPHA:60040
5290	PIK3CA	HP:0001052	Nevus flammeus	HP:0040281	ORPHA:168984
5290	PIK3CA	HP:0001051	Seborrheic dermatitis	HP:0040283	ORPHA:276280
5290	PIK3CA	HP:0001054	Numerous nevi	-	OMIM:162900
5290	PIK3CA	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0001048	Cavernous hemangioma	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0001048	Cavernous hemangioma	HP:0040282	ORPHA:221061
5290	PIK3CA	HP:0001067	Neurofibroma	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0002392	EEG with polyspike wave complexes	HP:0040282	ORPHA:99802
5290	PIK3CA	HP:0001034	Hypermelanotic macule	HP:0040282	ORPHA:60040
5290	PIK3CA	HP:0001031	Subcutaneous lipoma	-	OMIM:615108
5290	PIK3CA	HP:0001028	Hemangioma	HP:0040282	ORPHA:221061
5290	PIK3CA	HP:0001028	Hemangioma	HP:0040281	ORPHA:90308
5290	PIK3CA	HP:0002376	Developmental regression	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0001012	Multiple lipomas	HP:0040283	ORPHA:276280
5290	PIK3CA	HP:0001004	Lymphedema	-	OMIM:613089
5290	PIK3CA	HP:0001004	Lymphedema	HP:0040282	ORPHA:168984
5290	PIK3CA	HP:0002354	Memory impairment	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0002354	Memory impairment	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0002315	Headache	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0002315	Headache	HP:0040281	ORPHA:221061
5290	PIK3CA	HP:0100648	Neoplasm of the tongue	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0100646	Thyroiditis	-	OMIM:615108
5290	PIK3CA	HP:0007206	Hemimegalencephaly	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0007206	Hemimegalencephaly	HP:0040282	ORPHA:99802
5290	PIK3CA	HP:0100660	Dyskinesia	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0100661	Trigeminal neuralgia	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:276280
5290	PIK3CA	HP:0100658	Cellulitis	HP:0040282	ORPHA:90308
5290	PIK3CA	HP:0200034	Papule	HP:0040281	ORPHA:201
5290	PIK3CA	HP:0010828	Hemifacial spasm	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0010816	Epidermal nevus	HP:0040283	ORPHA:314662
5290	PIK3CA	HP:0010816	Epidermal nevus	HP:0040282	ORPHA:140944
5290	PIK3CA	HP:0010816	Epidermal nevus	-	OMIM:182000
5290	PIK3CA	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0010819	Atonic seizure	HP:0040283	ORPHA:99802
5290	PIK3CA	HP:0100684	Salivary gland neoplasm	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0200063	Colorectal polyposis	HP:0040281	ORPHA:201
5290	PIK3CA	HP:0100615	Ovarian neoplasm	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0100613	Death in early adulthood	HP:0040282	ORPHA:144
5290	PIK3CA	HP:0100621	Dysgerminoma	-	OMIM:167000
5290	PIK3CA	HP:0001085	Papilledema	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0010751	Dimple chin	5/5	OMIM:606773
5290	PIK3CA	HP:0002308	Chiari malformation	HP:0040283	ORPHA:60040
5290	PIK3CA	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:90308
5290	PIK3CA	HP:0030521	Bitemporal hemianopia	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:99802
5290	PIK3CA	HP:0030532	Visual acuity test abnormality	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0005595	Generalized hyperkeratosis	HP:0040281	ORPHA:201
5290	PIK3CA	HP:0005584	Renal cell carcinoma	-	OMIM:114500
5290	PIK3CA	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0001977	Abnormal thrombosis	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0000648	Optic atrophy	HP:0040283	ORPHA:99802
5290	PIK3CA	HP:0000648	Optic atrophy	HP:0040283	ORPHA:60040
5290	PIK3CA	HP:0000618	Blindness	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0001935	Microcytic anemia	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0001909	Leukemia	-	OMIM:602501
5290	PIK3CA	HP:0012691	Focal T2 hypointense thalamic lesion	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0012639	Abnormal nervous system morphology	HP:0040282	ORPHA:60040
5290	PIK3CA	HP:0004322	Short stature	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0003005	Ganglioneuroma	HP:0040284	ORPHA:168984
5290	PIK3CA	HP:0003002	Breast carcinoma	-	OMIM:167000
5290	PIK3CA	HP:0003002	Breast carcinoma	-	OMIM:114480
5290	PIK3CA	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0003002	Breast carcinoma	HP:0040281	ORPHA:201
5290	PIK3CA	HP:0003002	Breast carcinoma	-	OMIM:615108
5290	PIK3CA	HP:0003003	Colon cancer	HP:0040282	ORPHA:144
5290	PIK3CA	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:99802
5290	PIK3CA	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:60040
5290	PIK3CA	HP:0030680	Abnormal cardiovascular system morphology	-	OMIM:612918
5290	PIK3CA	HP:0040009	Hyperparakeratosis	HP:0040283	ORPHA:276280
5290	PIK3CA	HP:0000802	Impotence	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0004390	Hamartomatous polyposis	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0004390	Hamartomatous polyposis	-	OMIM:615108
5290	PIK3CA	HP:0004377	Hematological neoplasm	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0003010	Prolonged bleeding time	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0012749	Focal T2 hypointense brainstem lesion	HP:0040282	ORPHA:221061
5290	PIK3CA	HP:0100010	Spinal meningioma	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040282	ORPHA:221061
5290	PIK3CA	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0100009	Intracranial meningioma	HP:0040281	ORPHA:2495
5290	PIK3CA	HP:0000771	Gynecomastia	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0000771	Gynecomastia	-	OMIM:615108
5290	PIK3CA	HP:0012733	Macule	HP:0040281	ORPHA:201
5290	PIK3CA	HP:0012740	Papilloma	HP:0040281	ORPHA:201
5290	PIK3CA	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:168984
5290	PIK3CA	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0000767	Pectus excavatum	-	OMIM:615108
5290	PIK3CA	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0012725	Cutaneous syndactyly	HP:0040283	ORPHA:314662
5290	PIK3CA	HP:0012725	Cutaneous syndactyly	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0012721	Venous malformation	6/6	OMIM:612918
5290	PIK3CA	HP:0012721	Venous malformation	HP:0040283	ORPHA:221061
5290	PIK3CA	HP:0012721	Venous malformation	-	OMIM:613089
5290	PIK3CA	HP:0012721	Venous malformation	HP:0040282	ORPHA:140944
5290	PIK3CA	HP:0012721	Venous malformation	HP:0040282	ORPHA:168984
5290	PIK3CA	HP:0100026	Arteriovenous malformation	HP:0040281	ORPHA:60040
5290	PIK3CA	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0000738	Hallucinations	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0000737	Irritability	HP:0040282	ORPHA:144
5290	PIK3CA	HP:0000739	Anxiety	HP:0040282	ORPHA:144
5290	PIK3CA	HP:0000716	Depression	HP:0040282	ORPHA:144
5290	PIK3CA	HP:0000717	Autism	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0000712	Emotional lability	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0000708	Atypical behavior	HP:0040282	ORPHA:144
5290	PIK3CA	HP:0030591	Abnormal kinetic perimetry test	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0009126	Increased adipose tissue	HP:0040282	ORPHA:314662
5290	PIK3CA	HP:0009126	Increased adipose tissue	HP:0040281	ORPHA:140944
5290	PIK3CA	HP:0000774	Narrow chest	HP:0040283	ORPHA:168984
5290	PIK3CA	HP:0000790	Hematuria	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0012757	Abnormal neuron morphology	HP:0040283	ORPHA:99802
5290	PIK3CA	HP:0004437	Cranial hyperostosis	-	OMIM:612918
5290	PIK3CA	HP:0004414	Abnormality of the pulmonary artery	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0030766	Ear pain	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0004411	Deviated nasal septum	3/5	OMIM:606773
5290	PIK3CA	HP:0004408	Abnormality of the sense of smell	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0000929	Abnormal skull morphology	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:99802
5290	PIK3CA	HP:0004481	Progressive macrocephaly	-	OMIM:615108
5290	PIK3CA	HP:0004481	Progressive macrocephaly	-	OMIM:602501
5290	PIK3CA	HP:0011513	Retinal cavernous hemangioma	HP:0040283	ORPHA:221061
5290	PIK3CA	HP:0000854	Thyroid adenoma	-	OMIM:615108
5290	PIK3CA	HP:0000853	Goiter	HP:0040281	ORPHA:201
5290	PIK3CA	HP:0000853	Goiter	-	OMIM:615108
5290	PIK3CA	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0000836	Hyperthyroidism	-	OMIM:615108
5290	PIK3CA	HP:0000821	Hypothyroidism	-	OMIM:615108
5290	PIK3CA	HP:0000820	Abnormality of the thyroid gland	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0012887	Ovarian serous cystadenoma	HP:0040283	ORPHA:276280
5290	PIK3CA	HP:0030878	Abnormality on pulmonary function testing	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040281	ORPHA:99802
5290	PIK3CA	HP:0045026	Abnormal mediastinum morphology	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0000995	Melanocytic nevus	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0000995	Melanocytic nevus	-	OMIM:162900
5290	PIK3CA	HP:0010301	Spinal dysraphism	HP:0040283	OMIM:612918
5290	PIK3CA	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:615108
5290	PIK3CA	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:201
5290	PIK3CA	HP:0000969	Edema	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0000965	Cutis marmorata	HP:0040282	ORPHA:60040
5290	PIK3CA	HP:0000965	Cutis marmorata	-	OMIM:602501
5290	PIK3CA	HP:0000965	Cutis marmorata	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0045025	Narrow palpebral fissure	4/5	OMIM:606773
5290	PIK3CA	HP:0040171	Decreased serum testosterone concentration	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:144
5290	PIK3CA	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:201
5290	PIK3CA	HP:0011675	Arrhythmia	HP:0040283	ORPHA:60040
5290	PIK3CA	HP:0007715	Weak extraocular muscles	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0012285	Abnormal hypothalamus physiology	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0000286	Epicanthus	-	OMIM:602501
5290	PIK3CA	HP:0000293	Full cheeks	HP:0040282	ORPHA:60040
5290	PIK3CA	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:99802
5290	PIK3CA	HP:0000256	Macrocephaly	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0000256	Macrocephaly	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0000256	Macrocephaly	HP:0040283	ORPHA:99802
5290	PIK3CA	HP:0000256	Macrocephaly	HP:0040281	ORPHA:60040
5290	PIK3CA	HP:0000267	Cranial asymmetry	HP:0040282	ORPHA:99802
5290	PIK3CA	HP:0030078	Lung adenocarcinoma	-	OMIM:211980
5290	PIK3CA	HP:0002808	Kyphosis	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0002808	Kyphosis	-	OMIM:615108
5290	PIK3CA	HP:0000238	Hydrocephalus	-	OMIM:602501
5290	PIK3CA	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:60040
5290	PIK3CA	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0000252	Microcephaly	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0000221	Furrowed tongue	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0000221	Furrowed tongue	-	OMIM:615108
5290	PIK3CA	HP:0001548	Overgrowth	-	OMIM:612918
5290	PIK3CA	HP:0001548	Overgrowth	HP:0040280	ORPHA:276280
5290	PIK3CA	HP:0001548	Overgrowth	-	OMIM:602501
5290	PIK3CA	HP:0001548	Overgrowth	HP:0040281	ORPHA:168984
5290	PIK3CA	HP:0001548	Overgrowth	HP:0040280	ORPHA:314662
5290	PIK3CA	HP:0000218	High palate	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0000218	High palate	-	OMIM:615108
5290	PIK3CA	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
5290	PIK3CA	HP:0002861	Melanoma	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0002858	Meningioma	HP:0040282	ORPHA:201
5290	PIK3CA	HP:0002858	Meningioma	-	OMIM:602501
5290	PIK3CA	HP:0002858	Meningioma	HP:0040284	ORPHA:221061
5290	PIK3CA	HP:0002858	Meningioma	-	OMIM:615108
5290	PIK3CA	HP:0001528	Hemihypertrophy	HP:0040280	OMIM:612918
5290	PIK3CA	HP:0001528	Hemihypertrophy	HP:0040284	OMIM:613089
5290	PIK3CA	HP:0001528	Hemihypertrophy	HP:0040282	ORPHA:140944
5290	PIK3CA	HP:0001528	Hemihypertrophy	HP:0040281	ORPHA:168984
5290	PIK3CA	HP:0001522	Death in infancy	HP:0040282	ORPHA:144
5290	PIK3CA	HP:0001541	Ascites	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0001508	Failure to thrive	HP:0040282	ORPHA:168984
5290	PIK3CA	HP:0001508	Failure to thrive	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0001508	Failure to thrive	HP:0040282	ORPHA:60040
5290	PIK3CA	HP:0001513	Obesity	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:99802
5290	PIK3CA	HP:0012378	Fatigue	HP:0040281	ORPHA:144
5290	PIK3CA	HP:0012377	Hemianopia	HP:0040283	ORPHA:99802
5290	PIK3CA	HP:0011029	Internal hemorrhage	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0006572	Subacute progressive viral hepatitis	-	OMIM:114550
5290	PIK3CA	HP:0007872	Choroidal hemangioma	HP:0040283	ORPHA:221061
5290	PIK3CA	HP:0006519	Alveolar cell carcinoma	-	OMIM:211980
5290	PIK3CA	HP:0006520	Progressive pulmonary function impairment	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0000365	Hearing impairment	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0000365	Hearing impairment	-	OMIM:615108
5290	PIK3CA	HP:0000360	Tinnitus	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0000337	Broad forehead	-	OMIM:602501
5290	PIK3CA	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0000348	High forehead	HP:0040282	ORPHA:60040
5290	PIK3CA	HP:0000347	Micrognathia	-	OMIM:615108
5290	PIK3CA	HP:0000319	Smooth philtrum	-	OMIM:602501
5290	PIK3CA	HP:0000316	Hypertelorism	-	OMIM:602501
5290	PIK3CA	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0000327	Hypoplasia of the maxilla	-	OMIM:615108
5290	PIK3CA	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:140944
5290	PIK3CA	HP:0000324	Facial asymmetry	HP:0040281	ORPHA:60040
5290	PIK3CA	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:168984
5290	PIK3CA	HP:0000324	Facial asymmetry	-	OMIM:612918
5290	PIK3CA	HP:0031487	Capillary malformation of the lip	13/13	OMIM:613089
5290	PIK3CA	HP:0031487	Capillary malformation of the lip	HP:0040280	ORPHA:168984
5290	PIK3CA	HP:0001629	Ventricular septal defect	-	OMIM:602501
5290	PIK3CA	HP:0001626	Abnormality of the cardiovascular system	-	OMIM:615108
5290	PIK3CA	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0007924	Slow decrease in visual acuity	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0011195	EEG with focal sharp slow waves	HP:0040282	ORPHA:99802
5290	PIK3CA	HP:0011193	EEG with focal spikes	HP:0040282	ORPHA:99802
5290	PIK3CA	HP:0011167	Focal tonic seizure	HP:0040283	ORPHA:99802
5290	PIK3CA	HP:0011153	Focal motor seizure	HP:0040282	ORPHA:99802
5290	PIK3CA	HP:0005374	Cellular immunodeficiency	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0005306	Capillary hemangioma	HP:0040280	ORPHA:168984
5290	PIK3CA	HP:0005323	Hemifacial hypertrophy	5/5	OMIM:606773
5290	PIK3CA	HP:0001702	Abnormal tricuspid valve morphology	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0005293	Venous insufficiency	HP:0040281	ORPHA:90308
5290	PIK3CA	HP:0005280	Depressed nasal bridge	-	OMIM:602501
5290	PIK3CA	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:60040
5290	PIK3CA	HP:0000494	Downslanted palpebral fissures	-	OMIM:602501
5290	PIK3CA	HP:0000490	Deeply set eye	HP:0040283	ORPHA:60040
5290	PIK3CA	HP:0011133	Increased sensitivity to ionizing radiation	HP:0040281	ORPHA:2495
5290	PIK3CA	HP:0001789	Hydrops fetalis	HP:0040283	ORPHA:90308
5290	PIK3CA	HP:0000465	Webbed neck	1/6	OMIM:612918
5290	PIK3CA	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:60040
5290	PIK3CA	HP:0001782	Bulbous tips of toes	HP:0040282	ORPHA:140944
5290	PIK3CA	HP:0001744	Splenomegaly	1/6	OMIM:612918
5290	PIK3CA	HP:0006753	Neoplasm of the stomach	HP:0040282	ORPHA:144
5290	PIK3CA	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
5290	PIK3CA	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
5290	PIK3CA	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:615108
5290	PIK3CA	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0006731	Follicular thyroid carcinoma	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
5290	PIK3CA	HP:0030424	Epididymal cyst	HP:0040283	ORPHA:314662
5290	PIK3CA	HP:0030430	Neuroma	HP:0040282	ORPHA:221061
5290	PIK3CA	HP:0011276	Vascular skin abnormality	HP:0040282	ORPHA:314662
5290	PIK3CA	HP:0011276	Vascular skin abnormality	HP:0040283	ORPHA:221061
5290	PIK3CA	HP:0006774	Ovarian papillary adenocarcinoma	-	OMIM:167000
5290	PIK3CA	HP:0006758	Malignant genitourinary tract tumor	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0012505	Enlarged pituitary gland	HP:0040283	ORPHA:2495
5290	PIK3CA	HP:0000518	Cataract	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0000518	Cataract	-	OMIM:615108
5290	PIK3CA	HP:0001852	Sandal gap	4/6	OMIM:612918
5290	PIK3CA	HP:0001852	Sandal gap	HP:0040282	ORPHA:140944
5290	PIK3CA	HP:0000520	Proptosis	HP:0040284	ORPHA:2495
5290	PIK3CA	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:276280
5290	PIK3CA	HP:0001829	Foot polydactyly	HP:0040281	ORPHA:60040
5290	PIK3CA	HP:0001824	Weight loss	HP:0040281	ORPHA:144
5290	PIK3CA	HP:0000508	Ptosis	4/5	OMIM:606773
5290	PIK3CA	HP:0000505	Visual impairment	HP:0040283	ORPHA:144
5290	PIK3CA	HP:0004099	Macrodactyly	-	OMIM:613089
5290	PIK3CA	HP:0004099	Macrodactyly	5/6	OMIM:612918
5290	PIK3CA	HP:0004099	Macrodactyly	HP:0040282	ORPHA:276280
5290	PIK3CA	HP:0004099	Macrodactyly	HP:0040282	ORPHA:140944
5290	PIK3CA	HP:0004099	Macrodactyly	HP:0040282	ORPHA:168984
5290	PIK3CA	HP:0004099	Macrodactyly	6/6	OMIM:155500
5290	PIK3CA	HP:0030344	Decreased circulating luteinizing hormone level	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0030341	Decreased circulating follicle stimulating hormone concentration	HP:0040282	ORPHA:2495
5290	PIK3CA	HP:0030358	Non-small cell lung carcinoma	-	OMIM:211980
5290	PIK3CA	HP:0011215	Hemihypsarrhythmia	HP:0040282	ORPHA:99802
5290	PIK3CA	HP:0000568	Microphthalmia	-	OMIM:602501
5290	PIK3CA	HP:0012531	Pain	HP:0040283	ORPHA:140944
5290	PIK3CA	HP:0000545	Myopia	HP:0040283	ORPHA:201
5290	PIK3CA	HP:0000545	Myopia	-	OMIM:615108
5293	PIK3CD	HP:0003765	Psoriasiform dermatitis	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0032247	Persistent CMV viremia	HP:0040283	ORPHA:693661
5293	PIK3CD	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0009891	Underdeveloped supraorbital ridges	-	OMIM:613328
5293	PIK3CD	HP:0002403	Positive Romberg sign	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0032204	Chronic active Epstein-Barr virus infection	HP:0040283	ORPHA:693661
5293	PIK3CD	HP:0032218	Decreased proportion of CD4-positive T cells	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0100806	Sepsis	HP:0040283	ORPHA:33110
5293	PIK3CD	HP:0001287	Meningitis	HP:0040283	ORPHA:33110
5293	PIK3CD	HP:0002583	Colitis	1/1	OMIM:619281
5293	PIK3CD	HP:0001251	Ataxia	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0001249	Intellectual disability	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0001263	Global developmental delay	-	OMIM:613328
5293	PIK3CD	HP:0001263	Global developmental delay	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0001263	Global developmental delay	HP:0040283	ORPHA:693661
5293	PIK3CD	HP:0010976	Decreased total B cell count	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0010976	Decreased total B cell count	2/2	OMIM:619281
5293	PIK3CD	HP:0010976	Decreased total B cell count	HP:0040282	ORPHA:693661
5293	PIK3CD	HP:0031014	Arteria lusoria	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0000086	Ectopic kidney	-	OMIM:613328
5293	PIK3CD	HP:0001369	Arthritis	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0001369	Arthritis	-	OMIM:613328
5293	PIK3CD	HP:0001369	Arthritis	HP:0040282	ORPHA:33110
5293	PIK3CD	HP:0000010	Recurrent urinary tract infections	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0000007	Autosomal recessive inheritance	-	OMIM:613328
5293	PIK3CD	HP:0000007	Autosomal recessive inheritance	-	OMIM:619281
5293	PIK3CD	HP:0000006	Autosomal dominant inheritance	-	OMIM:615513
5293	PIK3CD	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0012177	Abnormal natural killer cell physiology	2/2	OMIM:619281
5293	PIK3CD	HP:0012115	Hepatitis	HP:0040283	ORPHA:33110
5293	PIK3CD	HP:0007678	Lacrimal duct stenosis	-	OMIM:613328
5293	PIK3CD	HP:0007678	Lacrimal duct stenosis	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0410018	Recurrent ear infections	17/17	OMIM:615513
5293	PIK3CD	HP:0410018	Recurrent ear infections	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0002754	Osteomyelitis	HP:0040282	ORPHA:33110
5293	PIK3CD	HP:0002719	Recurrent infections	HP:0040281	ORPHA:33110
5293	PIK3CD	HP:0002718	Recurrent bacterial infections	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0002716	Lymphadenopathy	5/7	OMIM:615513
5293	PIK3CD	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:693661
5293	PIK3CD	HP:0002720	Decreased circulating IgA concentration	3/3	OMIM:619281
5293	PIK3CD	HP:0002721	Immunodeficiency	-	OMIM:615513
5293	PIK3CD	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:33110
5293	PIK3CD	HP:0002024	Malabsorption	HP:0040283	ORPHA:693661
5293	PIK3CD	HP:0002024	Malabsorption	HP:0040283	ORPHA:33110
5293	PIK3CD	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0002037	Inflammation of the large intestine	1/1	OMIM:619281
5293	PIK3CD	HP:0002028	Chronic diarrhea	1/1	OMIM:619281
5293	PIK3CD	HP:0002014	Diarrhea	HP:0040281	ORPHA:33110
5293	PIK3CD	HP:0002014	Diarrhea	HP:0040283	ORPHA:221139
5293	PIK3CD	HP:0002014	Diarrhea	HP:0040283	ORPHA:693661
5293	PIK3CD	HP:0002007	Frontal bossing	HP:0040283	ORPHA:221139
5293	PIK3CD	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0100540	Palpebral edema	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0002080	Intention tremor	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0002090	Pneumonia	-	OMIM:613328
5293	PIK3CD	HP:0002058	Myopathic facies	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0040288	Nasogastric tube feeding	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0002123	Generalized myoclonic seizure	-	OMIM:613328
5293	PIK3CD	HP:0002119	Ventriculomegaly	-	OMIM:613328
5293	PIK3CD	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0003460	Decreased circulating total IgA	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0002100	Recurrent aspiration pneumonia	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0002110	Bronchiectasis	12/16	OMIM:615513
5293	PIK3CD	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:693661
5293	PIK3CD	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:33110
5293	PIK3CD	HP:0003496	Increased circulating IgM level	14/17	OMIM:615513
5293	PIK3CD	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0011897	Increased total neutrophil count	1/1	OMIM:619281
5293	PIK3CD	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0010579	Cone-shaped epiphysis	-	OMIM:613328
5293	PIK3CD	HP:0003593	Infantile onset	1/2	OMIM:619281
5293	PIK3CD	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:693661
5293	PIK3CD	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:33110
5293	PIK3CD	HP:0002205	Recurrent respiratory infections	17/17	OMIM:615513
5293	PIK3CD	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:693661
5293	PIK3CD	HP:0033351	Candida esophagitis	1/1	OMIM:619281
5293	PIK3CD	HP:0008348	Decreased circulating IgG2 concentration	10/11	OMIM:615513
5293	PIK3CD	HP:0009650	Short distal phalanx of the thumb	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0011956	Intestinal lymphoid nodular hyperplasia	HP:0040282	ORPHA:693661
5293	PIK3CD	HP:0100660	Dyskinesia	-	OMIM:613328
5293	PIK3CD	HP:0100658	Cellulitis	-	OMIM:615513
5293	PIK3CD	HP:0100658	Cellulitis	HP:0040283	ORPHA:33110
5293	PIK3CD	HP:0009844	Broad middle phalanx of finger	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0200043	Verrucae	HP:0040283	ORPHA:693661
5293	PIK3CD	HP:0200043	Verrucae	HP:0040283	ORPHA:33110
5293	PIK3CD	HP:0032132	Decreased circulating total IgG concentration	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0020114	Persistent human papillomavirus infection	HP:0040283	ORPHA:693661
5293	PIK3CD	HP:0032140	Decreased specific antibody response to vaccination	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0032163	Molluscum contagiosum	HP:0040283	ORPHA:693661
5293	PIK3CD	HP:0010750	Dermatochalasis	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0010743	Short metatarsal	-	OMIM:613328
5293	PIK3CD	HP:0003621	Juvenile onset	1/1	OMIM:619281
5293	PIK3CD	HP:0009098	Chronic oral candidiasis	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0000648	Optic atrophy	-	OMIM:613328
5293	PIK3CD	HP:0001974	Increased total leukocyte count	1/1	OMIM:619281
5293	PIK3CD	HP:0001944	Dehydration	HP:0040283	ORPHA:33110
5293	PIK3CD	HP:0001945	Fever	HP:0040281	ORPHA:33110
5293	PIK3CD	HP:0000620	Dacryocystitis	HP:0040283	ORPHA:693661
5293	PIK3CD	HP:0000609	Optic nerve hypoplasia	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0010049	Short metacarpal	-	OMIM:613328
5293	PIK3CD	HP:0001999	Abnormal facial shape	-	OMIM:613328
5293	PIK3CD	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0004322	Short stature	HP:0040283	ORPHA:693661
5293	PIK3CD	HP:0004315	Decreased circulating IgG concentration	3/3	OMIM:619281
5293	PIK3CD	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0012735	Cough	HP:0040281	ORPHA:33110
5293	PIK3CD	HP:0011463	Childhood onset	1/2	OMIM:619281
5293	PIK3CD	HP:0005764	Polyarticular arthritis	1/1	OMIM:619281
5293	PIK3CD	HP:0004432	Agammaglobulinemia	HP:0040281	ORPHA:33110
5293	PIK3CD	HP:0004429	Recurrent viral infections	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0004425	Flat forehead	HP:0040283	ORPHA:221139
5293	PIK3CD	HP:0000924	Abnormality of the skeletal system	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0040025	Clinodactyly of the 4th finger	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0010282	Thin lower lip vermilion	-	OMIM:613328
5293	PIK3CD	HP:0010282	Thin lower lip vermilion	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0040022	Clinodactyly of the 2nd finger	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0040024	Clinodactyly of the 3rd finger	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0040218	Reduced total natural killer cell count	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0000998	Hypertrichosis	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0000988	Skin rash	HP:0040281	ORPHA:33110
5293	PIK3CD	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0000938	Osteopenia	-	OMIM:613328
5293	PIK3CD	HP:0000938	Osteopenia	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0000286	Epicanthus	HP:0040283	ORPHA:33110
5293	PIK3CD	HP:0025540	Abnormal T cell subset distribution	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:33110
5293	PIK3CD	HP:0000246	Sinusitis	HP:0040281	ORPHA:33110
5293	PIK3CD	HP:0000218	High palate	HP:0040283	ORPHA:33110
5293	PIK3CD	HP:0001537	Umbilical hernia	-	OMIM:613328
5293	PIK3CD	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0001508	Failure to thrive	HP:0040282	ORPHA:33110
5293	PIK3CD	HP:0002850	Decreased circulating total IgM	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0002850	Decreased circulating total IgM	1/2	OMIM:619281
5293	PIK3CD	HP:0031381	Decreased mitogen-induced T-cell proliferation	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0031382	Decreased anti-CD3/28-induced T-cell proliferation	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0002841	Recurrent fungal infections	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0012378	Fatigue	HP:0040281	ORPHA:33110
5293	PIK3CD	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:33110
5293	PIK3CD	HP:0000389	Chronic otitis media	HP:0040281	ORPHA:33110
5293	PIK3CD	HP:0006532	Recurrent pneumonia	2/2	OMIM:619281
5293	PIK3CD	HP:0000348	High forehead	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0012311	Increased total monocyte count	1/1	OMIM:619281
5293	PIK3CD	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33110
5293	PIK3CD	HP:0000316	Hypertelorism	-	OMIM:613328
5293	PIK3CD	HP:0000316	Hypertelorism	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0002960	Autoimmunity	HP:0040282	ORPHA:693661
5293	PIK3CD	HP:0000306	Abnormality of the chin	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0006610	Wide intermamillary distance	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0005387	Combined immunodeficiency	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0005280	Depressed nasal bridge	-	OMIM:613328
5293	PIK3CD	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0012476	Decreased specific pneumococcal antibody level	10/10	OMIM:615513
5293	PIK3CD	HP:0000490	Deeply set eye	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0000463	Anteverted nares	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0000470	Short neck	-	OMIM:613328
5293	PIK3CD	HP:0011108	Recurrent sinusitis	2/2	OMIM:619281
5293	PIK3CD	HP:0011110	Recurrent tonsillitis	HP:0040283	ORPHA:693661
5293	PIK3CD	HP:0000411	Protruding ear	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0001744	Splenomegaly	HP:0040282	ORPHA:693661
5293	PIK3CD	HP:0001744	Splenomegaly	10/17	OMIM:615513
5293	PIK3CD	HP:0000431	Wide nasal bridge	-	OMIM:613328
5293	PIK3CD	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0001761	Pes cavus	HP:0040282	ORPHA:221139
5293	PIK3CD	HP:0005425	Recurrent sinopulmonary infections	-	OMIM:615513
5293	PIK3CD	HP:0005403	Decreased total T cell count	12/17	OMIM:615513
5293	PIK3CD	HP:0005401	Recurrent candida infections	HP:0040283	ORPHA:693661
5293	PIK3CD	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:693661
5293	PIK3CD	HP:0000509	Conjunctivitis	HP:0040281	ORPHA:33110
5293	PIK3CD	HP:0031699	Disseminated cryptosporidium infection	HP:0040284	ORPHA:693661
5293	PIK3CD	HP:0001894	Thrombocytosis	1/1	OMIM:619281
5293	PIK3CD	HP:0030381	Increased transitional B cell proportion	14/16	OMIM:615513
5293	PIK3CD	HP:0030388	Decreased class-switched memory B cell proportion	8/16	OMIM:615513
5293	PIK3CD	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33110
5294	PIK3CG	HP:0032252	Granuloma	1/1	OMIM:619802
5294	PIK3CG	HP:0002583	Colitis	1/1	OMIM:619802
5294	PIK3CG	HP:0001252	Hypotonia	1/1	OMIM:619802
5294	PIK3CG	HP:0500266	Decreased CD8+ TEMRA T cell proportion	1/1	OMIM:619802
5294	PIK3CG	HP:0000010	Recurrent urinary tract infections	1/1	OMIM:619802
5294	PIK3CG	HP:0000007	Autosomal recessive inheritance	-	OMIM:619802
5294	PIK3CG	HP:0012156	Hemophagocytosis	1/1	OMIM:619802
5294	PIK3CG	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:619802
5294	PIK3CG	HP:0001433	Hepatosplenomegaly	0/1	OMIM:619802
5294	PIK3CG	HP:0002716	Lymphadenopathy	0/1	OMIM:619802
5294	PIK3CG	HP:0002720	Decreased circulating IgA concentration	2/2	OMIM:619802
5294	PIK3CG	HP:0002027	Abdominal pain	1/1	OMIM:619802
5294	PIK3CG	HP:0002014	Diarrhea	1/1	OMIM:619802
5294	PIK3CG	HP:0002155	Hypertriglyceridemia	1/1	OMIM:619802
5294	PIK3CG	HP:0100721	Mediastinal lymphadenopathy	1/1	OMIM:619802
5294	PIK3CG	HP:0011945	Bronchiolitis obliterans organizing pneumonia	1/1	OMIM:619802
5294	PIK3CG	HP:0003651	Foam cells	1/1	OMIM:619802
5294	PIK3CG	HP:0020113	Decreased proportion of regulatory T cells	1/1	OMIM:619802
5294	PIK3CG	HP:0003621	Juvenile onset	2/2	OMIM:619802
5294	PIK3CG	HP:0001945	Fever	1/1	OMIM:619802
5294	PIK3CG	HP:0001904	Autoimmune neutropenia	1/1	OMIM:619802
5294	PIK3CG	HP:0004315	Decreased circulating IgG concentration	1/2	OMIM:619802
5294	PIK3CG	HP:0004313	Decreased circulating immunoglobulin concentration	1/1	OMIM:619802
5294	PIK3CG	HP:0004387	Enterocolitis	1/1	OMIM:619802
5294	PIK3CG	HP:0040218	Reduced total natural killer cell count	1/1	OMIM:619802
5294	PIK3CG	HP:0003281	Increased circulating ferritin concentration	1/1	OMIM:619802
5294	PIK3CG	HP:0000964	Eczematoid dermatitis	1/1	OMIM:619802
5294	PIK3CG	HP:0001581	Recurrent skin infections	1/1	OMIM:619802
5294	PIK3CG	HP:0002850	Decreased circulating total IgM	2/2	OMIM:619802
5294	PIK3CG	HP:0002851	Elevated double-negative T cell proportion	1/1	OMIM:619802
5294	PIK3CG	HP:0012378	Fatigue	1/1	OMIM:619802
5294	PIK3CG	HP:0012312	Decreased total monocyte count	2/2	OMIM:619802
5294	PIK3CG	HP:0000403	Recurrent otitis media	1/1	OMIM:619802
5294	PIK3CG	HP:0001742	Nasal congestion	1/1	OMIM:619802
5294	PIK3CG	HP:0001744	Splenomegaly	1/1	OMIM:619802
5294	PIK3CG	HP:0005425	Recurrent sinopulmonary infections	1/1	OMIM:619802
5294	PIK3CG	HP:0005415	Decreased CD8+ T cell proportion	1/1	OMIM:619802
5294	PIK3CG	HP:0001890	Autoimmune hemolytic anemia	1/1	OMIM:619802
5294	PIK3CG	HP:0001888	Decreased total lymphocyte count	2/2	OMIM:619802
5294	PIK3CG	HP:0001880	Increased total eosinophil count	1/1	OMIM:619802
5294	PIK3CG	HP:0001873	Thrombocytopenia	2/2	OMIM:619802
5295	PIK3R1	HP:0001156	Brachydactyly	HP:0040283	ORPHA:3163
5295	PIK3R1	HP:0032247	Persistent CMV viremia	1/4	OMIM:616005
5295	PIK3R1	HP:0032247	Persistent CMV viremia	HP:0040283	ORPHA:693681
5295	PIK3R1	HP:0003758	Reduced subcutaneous adipose tissue	8/8	OMIM:269880
5295	PIK3R1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5295	PIK3R1	HP:0032204	Chronic active Epstein-Barr virus infection	HP:0040283	ORPHA:693681
5295	PIK3R1	HP:0001293	Cranial nerve compression	-	OMIM:131300
5295	PIK3R1	HP:0100806	Sepsis	HP:0040283	ORPHA:33110
5295	PIK3R1	HP:0001287	Meningitis	HP:0040283	ORPHA:33110
5295	PIK3R1	HP:0001256	Intellectual disability, mild	4/8	OMIM:269880
5295	PIK3R1	HP:0001252	Hypotonia	2/7	OMIM:615777
5295	PIK3R1	HP:0001249	Intellectual disability	5/7	OMIM:615777
5295	PIK3R1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:693681
5295	PIK3R1	HP:0001263	Global developmental delay	-	OMIM:615777
5295	PIK3R1	HP:0007392	Excessive wrinkled skin	HP:0040282	ORPHA:3163
5295	PIK3R1	HP:0410378	Decreased naive CD4-positive T cell proportion	4/4	OMIM:616005
5295	PIK3R1	HP:0410377	Decreased naive CD8 T cell proportion	4/4	OMIM:616005
5295	PIK3R1	HP:0010976	Decreased total B cell count	HP:0040282	ORPHA:693681
5295	PIK3R1	HP:0010976	Decreased total B cell count	4/4	OMIM:616005
5295	PIK3R1	HP:0002515	Waddling gait	54/102	OMIM:131300
5295	PIK3R1	HP:0001369	Arthritis	HP:0040282	ORPHA:33110
5295	PIK3R1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:3163
5295	PIK3R1	HP:0001382	Joint hypermobility	2/6	OMIM:269880
5295	PIK3R1	HP:0001382	Joint hypermobility	-	OMIM:615777
5295	PIK3R1	HP:0000023	Inguinal hernia	HP:0040281	ORPHA:3163
5295	PIK3R1	HP:0000023	Inguinal hernia	0/8	OMIM:269880
5295	PIK3R1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5295	PIK3R1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5295	PIK3R1	HP:0007485	Absence of subcutaneous fat	8/8	OMIM:269880
5295	PIK3R1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5295	PIK3R1	HP:0001324	Muscle weakness	40/96	OMIM:131300
5295	PIK3R1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5295	PIK3R1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615214
5295	PIK3R1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5295	PIK3R1	HP:0000006	Autosomal dominant inheritance	-	OMIM:269880
5295	PIK3R1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616005
5295	PIK3R1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5295	PIK3R1	HP:0002650	Scoliosis	12/14	OMIM:131300
5295	PIK3R1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5295	PIK3R1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5295	PIK3R1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5295	PIK3R1	HP:0012191	B-cell lymphoma	HP:0040284	OMIM:616005
5295	PIK3R1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5295	PIK3R1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:3163
5295	PIK3R1	HP:0000175	Cleft palate	2/7	OMIM:615777
5295	PIK3R1	HP:0000138	Ovarian cyst	3/3	OMIM:269880
5295	PIK3R1	HP:0012115	Hepatitis	HP:0040283	ORPHA:33110
5295	PIK3R1	HP:0007676	Hypoplasia of the iris	HP:0040281	ORPHA:3163
5295	PIK3R1	HP:0002783	Recurrent lower respiratory tract infections	3/4	OMIM:616005
5295	PIK3R1	HP:0002788	Recurrent upper respiratory tract infections	4/4	OMIM:616005
5295	PIK3R1	HP:0002754	Osteomyelitis	HP:0040282	ORPHA:33110
5295	PIK3R1	HP:0002750	Delayed skeletal maturation	3/3	OMIM:269880
5295	PIK3R1	HP:0002719	Recurrent infections	HP:0040281	ORPHA:33110
5295	PIK3R1	HP:0002719	Recurrent infections	1/1	OMIM:615214
5295	PIK3R1	HP:0002718	Recurrent bacterial infections	4/4	OMIM:616005
5295	PIK3R1	HP:0002715	Abnormality of the immune system	-	OMIM:269880
5295	PIK3R1	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:693681
5295	PIK3R1	HP:0002714	Downturned corners of mouth	-	OMIM:269880
5295	PIK3R1	HP:0002720	Decreased circulating IgA concentration	HP:0040282	ORPHA:693681
5295	PIK3R1	HP:0002720	Decreased circulating IgA concentration	4/4	OMIM:616005
5295	PIK3R1	HP:0002721	Immunodeficiency	-	OMIM:616005
5295	PIK3R1	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:33110
5295	PIK3R1	HP:0002024	Malabsorption	HP:0040283	ORPHA:693681
5295	PIK3R1	HP:0002024	Malabsorption	HP:0040283	ORPHA:33110
5295	PIK3R1	HP:0002028	Chronic diarrhea	HP:0040284	OMIM:616005
5295	PIK3R1	HP:0002014	Diarrhea	HP:0040281	ORPHA:33110
5295	PIK3R1	HP:0002014	Diarrhea	HP:0040283	ORPHA:693681
5295	PIK3R1	HP:0002007	Frontal bossing	-	OMIM:269880
5295	PIK3R1	HP:0011800	Midface retrusion	HP:0040282	ORPHA:3163
5295	PIK3R1	HP:0011800	Midface retrusion	14/16	OMIM:269880
5295	PIK3R1	HP:0003388	Easy fatigability	36/76	OMIM:131300
5295	PIK3R1	HP:0009466	Radial deviation of finger	-	OMIM:269880
5295	PIK3R1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5295	PIK3R1	HP:0100578	Lipoatrophy	-	OMIM:269880
5295	PIK3R1	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:693681
5295	PIK3R1	HP:0002110	Bronchiectasis	HP:0040284	OMIM:616005
5295	PIK3R1	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:33110
5295	PIK3R1	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:3163
5295	PIK3R1	HP:0003496	Increased circulating IgM level	3/4	OMIM:616005
5295	PIK3R1	HP:0010580	Enlarged epiphyses	-	OMIM:269880
5295	PIK3R1	HP:0003593	Infantile onset	1/1	OMIM:615214
5295	PIK3R1	HP:0003593	Infantile onset	2/4	OMIM:616005
5295	PIK3R1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:693681
5295	PIK3R1	HP:0003561	Birth length less than 3rd percentile	-	OMIM:269880
5295	PIK3R1	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:33110
5295	PIK3R1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:693681
5295	PIK3R1	HP:0002205	Recurrent respiratory infections	-	OMIM:615214
5295	PIK3R1	HP:0010668	Abnormal zygomatic bone morphology	HP:0040283	ORPHA:3163
5295	PIK3R1	HP:0008348	Decreased circulating IgG2 concentration	HP:0040282	ORPHA:693681
5295	PIK3R1	HP:0011956	Intestinal lymphoid nodular hyperplasia	HP:0040282	ORPHA:693681
5295	PIK3R1	HP:0003510	Severe short stature	7/7	OMIM:615777
5295	PIK3R1	HP:0003510	Severe short stature	HP:0040281	ORPHA:3163
5295	PIK3R1	HP:0020072	Persistent EBV viremia	1/4	OMIM:616005
5295	PIK3R1	HP:0001015	Prominent superficial veins	5/7	OMIM:269880
5295	PIK3R1	HP:0002315	Headache	-	OMIM:131300
5295	PIK3R1	HP:0004976	Knee dislocation	6/7	OMIM:615777
5295	PIK3R1	HP:0100658	Cellulitis	HP:0040283	ORPHA:33110
5295	PIK3R1	HP:0100678	Premature skin wrinkling	5/7	OMIM:269880
5295	PIK3R1	HP:0200043	Verrucae	HP:0040283	ORPHA:33110
5295	PIK3R1	HP:0009803	Short phalanx of finger	-	OMIM:615777
5295	PIK3R1	HP:0008499	High hypermetropia	4/5	OMIM:269880
5295	PIK3R1	HP:0032163	Molluscum contagiosum	HP:0040283	ORPHA:693681
5295	PIK3R1	HP:0010751	Dimple chin	-	OMIM:269880
5295	PIK3R1	HP:0009763	Limb pain	63/92	OMIM:131300
5295	PIK3R1	HP:0003621	Juvenile onset	1/4	OMIM:616005
5295	PIK3R1	HP:0003621	Juvenile onset	-	OMIM:131300
5295	PIK3R1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5295	PIK3R1	HP:0004279	Short palm	HP:0040283	ORPHA:3163
5295	PIK3R1	HP:0005550	Chronic lymphatic leukemia	HP:0040284	OMIM:616005
5295	PIK3R1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5295	PIK3R1	HP:6001056	Out-toeing	-	OMIM:131300
5295	PIK3R1	HP:0000651	Diplopia	-	OMIM:131300
5295	PIK3R1	HP:0001944	Dehydration	HP:0040283	ORPHA:33110
5295	PIK3R1	HP:0000615	Abnormal pupil morphology	HP:0040282	ORPHA:3163
5295	PIK3R1	HP:0001945	Fever	HP:0040281	ORPHA:33110
5295	PIK3R1	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:3163
5295	PIK3R1	HP:0001956	Truncal obesity	2/7	OMIM:615777
5295	PIK3R1	HP:0001952	Glucose intolerance	-	OMIM:269880
5295	PIK3R1	HP:0001903	Anemia	HP:0040283	OMIM:131300
5295	PIK3R1	HP:0010049	Short metacarpal	-	OMIM:615777
5295	PIK3R1	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:3163
5295	PIK3R1	HP:0000684	Delayed eruption of teeth	6/6	OMIM:269880
5295	PIK3R1	HP:0000678	Dental crowding	-	OMIM:615777
5295	PIK3R1	HP:0000691	Microdontia	HP:0040282	ORPHA:3163
5295	PIK3R1	HP:0000689	Dental malocclusion	-	OMIM:269880
5295	PIK3R1	HP:0000670	Carious teeth	-	OMIM:131300
5295	PIK3R1	HP:0011304	Broad thumb	2/7	OMIM:615777
5295	PIK3R1	HP:0000668	Hypodontia	-	OMIM:615777
5295	PIK3R1	HP:0000668	Hypodontia	-	OMIM:269880
5295	PIK3R1	HP:0000664	Synophrys	-	OMIM:615777
5295	PIK3R1	HP:0004322	Short stature	-	OMIM:616005
5295	PIK3R1	HP:0004322	Short stature	HP:0040282	ORPHA:693681
5295	PIK3R1	HP:0004315	Decreased circulating IgG concentration	4/4	OMIM:616005
5295	PIK3R1	HP:0003074	Hyperglycemia	-	OMIM:269880
5295	PIK3R1	HP:0004396	Poor appetite	HP:0040282	ORPHA:3163
5295	PIK3R1	HP:0004396	Poor appetite	-	OMIM:131300
5295	PIK3R1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5295	PIK3R1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5295	PIK3R1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5295	PIK3R1	HP:0003026	Short long bone	7/7	OMIM:615777
5295	PIK3R1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5295	PIK3R1	HP:0012735	Cough	HP:0040281	ORPHA:33110
5295	PIK3R1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5295	PIK3R1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5295	PIK3R1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5295	PIK3R1	HP:0000750	Delayed speech and language development	4/8	OMIM:269880
5295	PIK3R1	HP:0000750	Delayed speech and language development	-	OMIM:615777
5295	PIK3R1	HP:0011463	Childhood onset	1/4	OMIM:616005
5295	PIK3R1	HP:0011461	Fetal onset	7/7	OMIM:615777
5295	PIK3R1	HP:0009125	Lipodystrophy	-	OMIM:269880
5295	PIK3R1	HP:0009125	Lipodystrophy	HP:0040282	ORPHA:3163
5295	PIK3R1	HP:0000774	Narrow chest	2/7	OMIM:615777
5295	PIK3R1	HP:0012758	Neurodevelopmental delay	HP:0040284	OMIM:616005
5295	PIK3R1	HP:0004432	Agammaglobulinemia	-	OMIM:615214
5295	PIK3R1	HP:0004432	Agammaglobulinemia	HP:0040281	ORPHA:33110
5295	PIK3R1	HP:0003100	Slender long bone	2/6	OMIM:269880
5295	PIK3R1	HP:0000926	Platyspondyly	1/7	OMIM:615777
5295	PIK3R1	HP:0003180	Flat acetabular roof	-	OMIM:615777
5295	PIK3R1	HP:0004482	Relative macrocephaly	-	OMIM:615777
5295	PIK3R1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5295	PIK3R1	HP:0003139	Panhypogammaglobulinemia	1/1	OMIM:615214
5295	PIK3R1	HP:0000855	Insulin resistance	7/7	OMIM:269880
5295	PIK3R1	HP:0000855	Insulin resistance	HP:0040282	ORPHA:3163
5295	PIK3R1	HP:0000831	Insulin-resistant diabetes mellitus	5/8	OMIM:269880
5295	PIK3R1	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:3163
5295	PIK3R1	HP:0000823	Delayed puberty	-	OMIM:131300
5295	PIK3R1	HP:0000894	Short clavicles	-	OMIM:615777
5295	PIK3R1	HP:0040218	Reduced total natural killer cell count	1/1	OMIM:615214
5295	PIK3R1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5295	PIK3R1	HP:0030812	Enlarged tonsils	1/4	OMIM:616005
5295	PIK3R1	HP:0000988	Skin rash	HP:0040281	ORPHA:33110
5295	PIK3R1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5295	PIK3R1	HP:0000963	Thin skin	5/7	OMIM:269880
5295	PIK3R1	HP:0008070	Sparse hair	HP:0040282	ORPHA:3163
5295	PIK3R1	HP:0000286	Epicanthus	HP:0040283	ORPHA:33110
5295	PIK3R1	HP:0000286	Epicanthus	1/7	OMIM:615777
5295	PIK3R1	HP:0000280	Coarse facial features	2/7	OMIM:615777
5295	PIK3R1	HP:0001596	Alopecia	HP:0040282	ORPHA:3163
5295	PIK3R1	HP:0000277	Abnormal mandible morphology	HP:0040283	ORPHA:3163
5295	PIK3R1	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:3163
5295	PIK3R1	HP:0000272	Malar flattening	HP:0040283	ORPHA:3163
5295	PIK3R1	HP:0002827	Hip dislocation	3/7	OMIM:615777
5295	PIK3R1	HP:0030084	Clinodactyly	-	OMIM:269880
5295	PIK3R1	HP:0000252	Microcephaly	-	OMIM:615777
5295	PIK3R1	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:33110
5295	PIK3R1	HP:0012219	Erythema nodosum	1/1	OMIM:615214
5295	PIK3R1	HP:0000246	Sinusitis	HP:0040281	ORPHA:33110
5295	PIK3R1	HP:0000218	High palate	HP:0040283	ORPHA:33110
5295	PIK3R1	HP:0002857	Genu valgum	-	OMIM:131300
5295	PIK3R1	HP:0001533	Slender build	-	OMIM:131300
5295	PIK3R1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:33110
5295	PIK3R1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:693681
5295	PIK3R1	HP:0001518	Small for gestational age	5/8	OMIM:269880
5295	PIK3R1	HP:0002843	Abnormal T cell morphology	0/1	OMIM:615214
5295	PIK3R1	HP:0001511	Intrauterine growth retardation	-	OMIM:269880
5295	PIK3R1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5295	PIK3R1	HP:0001510	Growth delay	-	OMIM:616005
5295	PIK3R1	HP:0007807	Optic nerve compression	-	OMIM:131300
5295	PIK3R1	HP:0012378	Fatigue	HP:0040281	ORPHA:33110
5295	PIK3R1	HP:0012368	Flat face	7/7	OMIM:615777
5295	PIK3R1	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:33110
5295	PIK3R1	HP:0000389	Chronic otitis media	HP:0040281	ORPHA:33110
5295	PIK3R1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5295	PIK3R1	HP:0000365	Hearing impairment	10/67	OMIM:131300
5295	PIK3R1	HP:0000369	Low-set ears	18/18	OMIM:269880
5295	PIK3R1	HP:0000343	Long philtrum	1/7	OMIM:615777
5295	PIK3R1	HP:0011001	Increased bone mineral density	-	OMIM:131300
5295	PIK3R1	HP:0000336	Prominent supraorbital ridges	HP:0040283	ORPHA:3163
5295	PIK3R1	HP:0000347	Micrognathia	9/9	OMIM:269880
5295	PIK3R1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:3163
5295	PIK3R1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33110
5295	PIK3R1	HP:0000311	Round face	2/7	OMIM:615777
5295	PIK3R1	HP:0000331	Short chin	18/18	OMIM:269880
5295	PIK3R1	HP:0000325	Triangular face	8/8	OMIM:269880
5295	PIK3R1	HP:0000325	Triangular face	HP:0040283	ORPHA:3163
5295	PIK3R1	HP:0002960	Autoimmunity	HP:0040283	ORPHA:693681
5295	PIK3R1	HP:0002960	Autoimmunity	HP:0040284	OMIM:616005
5295	PIK3R1	HP:0002970	Genu varum	-	OMIM:615777
5295	PIK3R1	HP:0000303	Mandibular prognathia	-	OMIM:131300
5295	PIK3R1	HP:0007957	Corneal opacity	HP:0040283	ORPHA:3163
5295	PIK3R1	HP:0005387	Combined immunodeficiency	HP:0040282	ORPHA:693681
5295	PIK3R1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:3163
5295	PIK3R1	HP:0000407	Sensorineural hearing impairment	-	OMIM:269880
5295	PIK3R1	HP:0000400	Macrotia	9/9	OMIM:269880
5295	PIK3R1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5295	PIK3R1	HP:0000483	Astigmatism	5/11	OMIM:269880
5295	PIK3R1	HP:0000485	Megalocornea	-	OMIM:269880
5295	PIK3R1	HP:0000485	Megalocornea	HP:0040282	ORPHA:3163
5295	PIK3R1	HP:0000490	Deeply set eye	-	OMIM:269880
5295	PIK3R1	HP:0000490	Deeply set eye	HP:0040281	ORPHA:3163
5295	PIK3R1	HP:0000470	Short neck	1/7	OMIM:615777
5295	PIK3R1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5295	PIK3R1	HP:0001763	Pes planus	1/7	OMIM:615777
5295	PIK3R1	HP:0001744	Splenomegaly	-	OMIM:616005
5295	PIK3R1	HP:0001744	Splenomegaly	HP:0040282	ORPHA:693681
5295	PIK3R1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:3163
5295	PIK3R1	HP:0000431	Wide nasal bridge	-	OMIM:269880
5295	PIK3R1	HP:0000430	Underdeveloped nasal alae	9/9	OMIM:269880
5295	PIK3R1	HP:0005411	Chronic intestinal candidiasis	HP:0040283	ORPHA:693681
5295	PIK3R1	HP:0000518	Cataract	-	OMIM:269880
5295	PIK3R1	HP:0001840	Metatarsus adductus	-	OMIM:615777
5295	PIK3R1	HP:0000520	Proptosis	2/4	OMIM:131300
5295	PIK3R1	HP:0000520	Proptosis	7/7	OMIM:615777
5295	PIK3R1	HP:0001824	Weight loss	HP:0040282	ORPHA:3163
5295	PIK3R1	HP:0000506	Telecanthus	-	OMIM:269880
5295	PIK3R1	HP:0000506	Telecanthus	HP:0040283	ORPHA:3163
5295	PIK3R1	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:693681
5295	PIK3R1	HP:0000509	Conjunctivitis	HP:0040281	ORPHA:33110
5295	PIK3R1	HP:0000501	Glaucoma	-	OMIM:269880
5295	PIK3R1	HP:0000501	Glaucoma	HP:0040282	ORPHA:3163
5295	PIK3R1	HP:0000593	Abnormal anterior chamber morphology	HP:0040283	ORPHA:3163
5295	PIK3R1	HP:0000592	Blue sclerae	2/7	OMIM:615777
5295	PIK3R1	HP:0011220	Prominent forehead	8/9	OMIM:269880
5295	PIK3R1	HP:0011220	Prominent forehead	HP:0040283	ORPHA:3163
5295	PIK3R1	HP:0000558	Rieger anomaly	2/8	OMIM:269880
5295	PIK3R1	HP:0001888	Decreased total lymphocyte count	-	OMIM:616005
5295	PIK3R1	HP:0030381	Increased transitional B cell proportion	3/4	OMIM:616005
5295	PIK3R1	HP:0000565	Esotropia	2/10	OMIM:269880
5295	PIK3R1	HP:0000540	Hypermetropia	4/5	OMIM:269880
5295	PIK3R1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5295	PIK3R1	HP:0012514	Lower limb pain	4/4	OMIM:131300
5295	PIK3R1	HP:0000545	Myopia	1/5	OMIM:269880
5295	PIK3R1	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33110
5295	PIK3R1	HP:0001875	Decreased total neutrophil count	1/1	OMIM:615214
5296	PIK3R2	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:83473
5296	PIK3R2	HP:0001250	Seizure	HP:0040282	ORPHA:83473
5296	PIK3R2	HP:0001250	Seizure	-	OMIM:603387
5296	PIK3R2	HP:0001263	Global developmental delay	-	OMIM:603387
5296	PIK3R2	HP:0025352	Typically de novo	-	OMIM:603387
5296	PIK3R2	HP:0001355	Megalencephaly	-	OMIM:603387
5296	PIK3R2	HP:0001355	Megalencephaly	HP:0040281	ORPHA:83473
5296	PIK3R2	HP:0000006	Autosomal dominant inheritance	-	OMIM:603387
5296	PIK3R2	HP:0001302	Pachygyria	-	OMIM:603387
5296	PIK3R2	HP:0000160	Narrow mouth	HP:0040282	ORPHA:83473
5296	PIK3R2	HP:0008936	Axial hypotonia	-	OMIM:603387
5296	PIK3R2	HP:0002007	Frontal bossing	-	OMIM:603387
5296	PIK3R2	HP:0100542	Abnormal localization of kidney	HP:0040282	ORPHA:83473
5296	PIK3R2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:603387
5296	PIK3R2	HP:0002119	Ventriculomegaly	13/13	OMIM:603387
5296	PIK3R2	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:83473
5296	PIK3R2	HP:0002126	Polymicrogyria	13/13	OMIM:603387
5296	PIK3R2	HP:0002187	Intellectual disability, profound	-	OMIM:603387
5296	PIK3R2	HP:0007074	Thick corpus callosum	-	OMIM:603387
5296	PIK3R2	HP:0001090	Abnormally large globe	-	OMIM:603387
5296	PIK3R2	HP:0010775	Vascular ring	-	OMIM:603387
5296	PIK3R2	HP:0000637	Long palpebral fissure	-	OMIM:603387
5296	PIK3R2	HP:0000618	Blindness	-	OMIM:603387
5296	PIK3R2	HP:0003202	Skeletal muscle atrophy	-	OMIM:603387
5296	PIK3R2	HP:0100259	Postaxial polydactyly	2/13	OMIM:603387
5296	PIK3R2	HP:0000256	Macrocephaly	HP:0040281	ORPHA:83473
5296	PIK3R2	HP:0000256	Macrocephaly	-	OMIM:603387
5296	PIK3R2	HP:0005105	Abnormal nasal morphology	HP:0040282	ORPHA:83473
5296	PIK3R2	HP:0002808	Kyphosis	-	OMIM:603387
5296	PIK3R2	HP:0006380	Knee flexion contracture	-	OMIM:603387
5296	PIK3R2	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:83473
5296	PIK3R2	HP:0000238	Hydrocephalus	13/13	OMIM:603387
5296	PIK3R2	HP:0001548	Overgrowth	2/11	OMIM:603387
5296	PIK3R2	HP:0002943	Thoracic scoliosis	-	OMIM:603387
5296	PIK3R2	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:83473
5296	PIK3R2	HP:0000348	High forehead	HP:0040282	ORPHA:83473
5296	PIK3R2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:83473
5296	PIK3R2	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:83473
5296	PIK3R2	HP:0001653	Mitral regurgitation	-	OMIM:603387
5296	PIK3R2	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:83473
5296	PIK3R2	HP:0001629	Ventricular septal defect	-	OMIM:603387
5296	PIK3R2	HP:0001631	Atrial septal defect	-	OMIM:603387
5296	PIK3R2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:83473
5296	PIK3R2	HP:0000506	Telecanthus	HP:0040282	ORPHA:83473
5296	PIK3R2	HP:0000508	Ptosis	-	OMIM:603387
5297	PI4KA	HP:0002495	Impaired vibratory sensation	1/2	OMIM:619621
5297	PI4KA	HP:0002463	Language impairment	HP:0040282	ORPHA:98889
5297	PI4KA	HP:0003765	Psoriasiform dermatitis	HP:0040284	ORPHA:436252
5297	PI4KA	HP:0010959	Congenital pulmonary airway malformation	HP:0040284	ORPHA:436252
5297	PI4KA	HP:0010946	Dilatation of the renal pelvis	2/14	OMIM:619708
5297	PI4KA	HP:0010945	Fetal pyelectasis	2/3	OMIM:616531
5297	PI4KA	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0010873	Cervical spinal cord atrophy	2/2	OMIM:619621
5297	PI4KA	HP:0010862	Delayed fine motor development	6/6	OMIM:619708
5297	PI4KA	HP:0002415	Leukodystrophy	-	OMIM:619708
5297	PI4KA	HP:0001276	Hypertonia	2/2	OMIM:619621
5297	PI4KA	HP:0001272	Cerebellar atrophy	-	OMIM:619708
5297	PI4KA	HP:0002599	Head titubation	1/5	OMIM:619708
5297	PI4KA	HP:0001288	Gait disturbance	1/2	OMIM:619621
5297	PI4KA	HP:0001250	Seizure	HP:0040282	ORPHA:98889
5297	PI4KA	HP:0001250	Seizure	4/11	OMIM:619708
5297	PI4KA	HP:0001251	Ataxia	2/5	OMIM:619708
5297	PI4KA	HP:0001249	Intellectual disability	HP:0040282	ORPHA:98889
5297	PI4KA	HP:0001249	Intellectual disability	6/6	OMIM:619708
5297	PI4KA	HP:0001260	Dysarthria	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0001263	Global developmental delay	HP:0040282	ORPHA:98889
5297	PI4KA	HP:0001263	Global developmental delay	6/6	OMIM:619708
5297	PI4KA	HP:0001258	Spastic paraplegia	2/2	OMIM:619621
5297	PI4KA	HP:0001257	Spasticity	HP:0040282	ORPHA:98889
5297	PI4KA	HP:0002589	Gastrointestinal atresia	HP:0040281	ORPHA:436252
5297	PI4KA	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:436252
5297	PI4KA	HP:0100889	Abnormal ductus choledochus morphology	HP:0040283	ORPHA:436252
5297	PI4KA	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:98889
5297	PI4KA	HP:0007340	Lower limb muscle weakness	2/2	OMIM:619621
5297	PI4KA	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0002509	Limb hypertonia	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0001371	Flexion contracture	HP:0040282	ORPHA:98889
5297	PI4KA	HP:0012015	EEG with frontal focal spikes	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0012017	EEG with parietal focal spikes	HP:0040282	ORPHA:98889
5297	PI4KA	HP:0012014	EEG with central focal spikes	HP:0040282	ORPHA:98889
5297	PI4KA	HP:0001349	Facial diplegia	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0001347	Hyperreflexia	2/2	OMIM:619621
5297	PI4KA	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:98889
5297	PI4KA	HP:0410011	Abnormality of masticatory muscle	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0008796	Femoral retroversion	3/3	OMIM:616531
5297	PI4KA	HP:0001332	Dystonia	2/6	OMIM:619708
5297	PI4KA	HP:0033725	Thin corpus callosum	-	OMIM:619708
5297	PI4KA	HP:0001328	Specific learning disability	HP:0040282	ORPHA:98889
5297	PI4KA	HP:0032407	Bilateral perisylvian polymicrogyria	HP:0040281	ORPHA:98889
5297	PI4KA	HP:0000012	Urinary urgency	1/2	OMIM:619621
5297	PI4KA	HP:0000007	Autosomal recessive inheritance	-	OMIM:619621
5297	PI4KA	HP:0000007	Autosomal recessive inheritance	-	OMIM:616531
5297	PI4KA	HP:0000007	Autosomal recessive inheritance	-	OMIM:619708
5297	PI4KA	HP:0001310	Dysmetria	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0001310	Dysmetria	2/5	OMIM:619708
5297	PI4KA	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0001320	Cerebellar vermis hypoplasia	2/3	OMIM:616531
5297	PI4KA	HP:0001321	Cerebellar hypoplasia	-	OMIM:616531
5297	PI4KA	HP:0001321	Cerebellar hypoplasia	-	OMIM:619708
5297	PI4KA	HP:0000143	Rectovaginal fistula	1/9	OMIM:619708
5297	PI4KA	HP:0012115	Hepatitis	HP:0040284	ORPHA:436252
5297	PI4KA	HP:0007663	Reduced visual acuity	2/6	OMIM:619708
5297	PI4KA	HP:0008969	Leg muscle stiffness	1/2	OMIM:619621
5297	PI4KA	HP:0008947	Floppy infant	HP:0040282	ORPHA:98889
5297	PI4KA	HP:0012110	Hypoplasia of the pons	-	OMIM:619708
5297	PI4KA	HP:0002722	Recurrent abscess formation	HP:0040283	ORPHA:436252
5297	PI4KA	HP:0002721	Immunodeficiency	HP:0040282	ORPHA:436252
5297	PI4KA	HP:0002721	Immunodeficiency	-	OMIM:619708
5297	PI4KA	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0002037	Inflammation of the large intestine	6/7	OMIM:619708
5297	PI4KA	HP:0002015	Dysphagia	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0002015	Dysphagia	6/6	OMIM:619708
5297	PI4KA	HP:0002089	Pulmonary hypoplasia	2/3	OMIM:616531
5297	PI4KA	HP:0002089	Pulmonary hypoplasia	1/14	OMIM:619708
5297	PI4KA	HP:0002080	Intention tremor	3/5	OMIM:619708
5297	PI4KA	HP:0100543	Cognitive impairment	1/2	OMIM:619621
5297	PI4KA	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0011755	Ectopic posterior pituitary	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0100592	Peritoneal abscess	HP:0040283	ORPHA:436252
5297	PI4KA	HP:0003487	Babinski sign	1/2	OMIM:619621
5297	PI4KA	HP:0002119	Ventriculomegaly	1/3	OMIM:616531
5297	PI4KA	HP:0002126	Polymicrogyria	3/10	OMIM:619708
5297	PI4KA	HP:0003429	CNS hypomyelination	-	OMIM:619708
5297	PI4KA	HP:0002110	Bronchiectasis	1/14	OMIM:619708
5297	PI4KA	HP:0002104	Apnea	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0002194	Delayed gross motor development	6/6	OMIM:619708
5297	PI4KA	HP:0010557	Overlapping fingers	1/3	OMIM:616531
5297	PI4KA	HP:0010557	Overlapping fingers	1/14	OMIM:619708
5297	PI4KA	HP:0003593	Infantile onset	1/2	OMIM:619621
5297	PI4KA	HP:0003593	Infantile onset	2/14	OMIM:619708
5297	PI4KA	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:98889
5297	PI4KA	HP:0100702	Arachnoid cyst	1/2	OMIM:619621
5297	PI4KA	HP:0002223	Absent eyebrow	HP:0040282	ORPHA:436252
5297	PI4KA	HP:0008404	Nail dystrophy	HP:0040284	ORPHA:436252
5297	PI4KA	HP:0002293	Alopecia of scalp	HP:0040283	ORPHA:436252
5297	PI4KA	HP:0007033	Cerebellar dysplasia	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0007033	Cerebellar dysplasia	-	OMIM:616531
5297	PI4KA	HP:0007024	Pseudobulbar paralysis	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0020045	Esodeviation	1/6	OMIM:619708
5297	PI4KA	HP:0002385	Paraparesis	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0002392	EEG with polyspike wave complexes	HP:0040282	ORPHA:98889
5297	PI4KA	HP:0002359	Frequent falls	2/2	OMIM:619621
5297	PI4KA	HP:0100651	Type I diabetes mellitus	HP:0040284	ORPHA:436252
5297	PI4KA	HP:0025085	Bloody diarrhea	HP:0040282	ORPHA:436252
5297	PI4KA	HP:0010808	Protruding tongue	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0001072	Thickened skin	HP:0040283	ORPHA:436252
5297	PI4KA	HP:0010766	Ectopic calcification	HP:0040281	ORPHA:436252
5297	PI4KA	HP:0002307	Drooling	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0020190	Perisylvian predominant thick cortex pachygyria	HP:0040282	ORPHA:98889
5297	PI4KA	HP:0003621	Juvenile onset	1/2	OMIM:619621
5297	PI4KA	HP:0000639	Nystagmus	1/2	OMIM:619621
5297	PI4KA	HP:0000639	Nystagmus	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0000639	Nystagmus	4/6	OMIM:619708
5297	PI4KA	HP:0000648	Optic atrophy	1/6	OMIM:619708
5297	PI4KA	HP:0012650	Perisylvian polymicrogyria	3/3	OMIM:616531
5297	PI4KA	HP:0031993	Hoffmann sign	1/2	OMIM:619621
5297	PI4KA	HP:0030674	Antenatal onset	10/14	OMIM:619708
5297	PI4KA	HP:0005684	Distal arthrogryposis	HP:0040282	ORPHA:98889
5297	PI4KA	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:98889
5297	PI4KA	HP:0000750	Delayed speech and language development	6/6	OMIM:619708
5297	PI4KA	HP:0011463	Childhood onset	2/14	OMIM:619708
5297	PI4KA	HP:0011461	Fetal onset	3/3	OMIM:616531
5297	PI4KA	HP:0011448	Ankle clonus	2/2	OMIM:619621
5297	PI4KA	HP:0000778	Hypoplasia of the thymus	HP:0040283	ORPHA:436252
5297	PI4KA	HP:0004430	Severe combined immunodeficiency	HP:0040281	ORPHA:436252
5297	PI4KA	HP:0000872	Hashimoto thyroiditis	HP:0040284	ORPHA:436252
5297	PI4KA	HP:0010292	Absent uvula	1/3	OMIM:616531
5297	PI4KA	HP:0010292	Absent uvula	1/14	OMIM:619708
5297	PI4KA	HP:0030890	Hyperintensity of cerebral white matter on MRI	-	OMIM:619708
5297	PI4KA	HP:0003273	Hip contracture	1/2	OMIM:619621
5297	PI4KA	HP:0003270	Abdominal distention	HP:0040282	ORPHA:436252
5297	PI4KA	HP:0100280	Crohn's disease	1/2	OMIM:619621
5297	PI4KA	HP:0008070	Sparse hair	HP:0040282	ORPHA:436252
5297	PI4KA	HP:0000268	Dolichocephaly	2/3	OMIM:616531
5297	PI4KA	HP:0000268	Dolichocephaly	2/14	OMIM:619708
5297	PI4KA	HP:0006466	Ankle flexion contracture	1/2	OMIM:619621
5297	PI4KA	HP:0002808	Kyphosis	3/14	OMIM:619708
5297	PI4KA	HP:0002804	Arthrogryposis multiplex congenita	3/3	OMIM:616531
5297	PI4KA	HP:0006380	Knee flexion contracture	1/2	OMIM:619621
5297	PI4KA	HP:0006380	Knee flexion contracture	2/3	OMIM:616531
5297	PI4KA	HP:0006380	Knee flexion contracture	2/14	OMIM:619708
5297	PI4KA	HP:0000252	Microcephaly	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:436252
5297	PI4KA	HP:0001539	Omphalocele	HP:0040284	ORPHA:436252
5297	PI4KA	HP:0002835	Aspiration	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0030051	Tip-toe gait	1/2	OMIM:619621
5297	PI4KA	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:436252
5297	PI4KA	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0005229	Jejunoileal ulceration	HP:0040282	ORPHA:436252
5297	PI4KA	HP:0005224	Rectal abscess	HP:0040283	ORPHA:436252
5297	PI4KA	HP:0000365	Hearing impairment	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0000347	Micrognathia	3/3	OMIM:616531
5297	PI4KA	HP:0000347	Micrognathia	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0000347	Micrognathia	3/14	OMIM:619708
5297	PI4KA	HP:0002960	Autoimmunity	HP:0040284	ORPHA:436252
5297	PI4KA	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:436252
5297	PI4KA	HP:0032965	Interstitial emphysema	1/14	OMIM:619708
5297	PI4KA	HP:0011157	Focal sensory seizure	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:98889
5297	PI4KA	HP:0012469	Infantile spasms	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0012454	Unilateral wrist flexion contracture	1/3	OMIM:616531
5297	PI4KA	HP:0011100	Intestinal atresia	HP:0040281	ORPHA:436252
5297	PI4KA	HP:0011100	Intestinal atresia	5/13	OMIM:619708
5297	PI4KA	HP:0000453	Choanal atresia	HP:0040283	ORPHA:98889
5297	PI4KA	HP:0001776	Bilateral talipes equinovarus	3/14	OMIM:619708
5297	PI4KA	HP:0001762	Talipes equinovarus	3/3	OMIM:616531
5297	PI4KA	HP:0001761	Pes cavus	1/2	OMIM:619621
5297	PI4KA	HP:0001890	Autoimmune hemolytic anemia	HP:0040284	ORPHA:436252
5297	PI4KA	HP:0001888	Decreased total lymphocyte count	-	OMIM:619708
5298	PI4KB	HP:0000006	Autosomal dominant inheritance	-	OMIM:620281
5298	PI4KB	HP:0003577	Congenital onset	7/7	OMIM:620281
5298	PI4KB	HP:0011387	Enlarged vestibular aqueduct	3/3	OMIM:620281
5298	PI4KB	HP:0000365	Hearing impairment	7/7	OMIM:620281
5298	PI4KB	HP:0000376	Incomplete partition of the cochlea type II	3/3	OMIM:620281
5307	PITX1	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1275
5307	PITX1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5307	PITX1	HP:0001293	Cranial nerve compression	-	OMIM:131300
5307	PITX1	HP:0001252	Hypotonia	2/7	OMIM:615777
5307	PITX1	HP:0001249	Intellectual disability	5/7	OMIM:615777
5307	PITX1	HP:0001263	Global developmental delay	-	OMIM:615777
5307	PITX1	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1275
5307	PITX1	HP:0031095	Abnormal humerus morphology	HP:0040281	ORPHA:1275
5307	PITX1	HP:0002515	Waddling gait	54/102	OMIM:131300
5307	PITX1	HP:0003829	Typified by incomplete penetrance	-	OMIM:119800
5307	PITX1	HP:0003826	Stillbirth	1/3	OMIM:119800
5307	PITX1	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1275
5307	PITX1	HP:0001382	Joint hypermobility	-	OMIM:615777
5307	PITX1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5307	PITX1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5307	PITX1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5307	PITX1	HP:0001324	Muscle weakness	40/96	OMIM:131300
5307	PITX1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5307	PITX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5307	PITX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5307	PITX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:119800
5307	PITX1	HP:0002650	Scoliosis	12/14	OMIM:131300
5307	PITX1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5307	PITX1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5307	PITX1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5307	PITX1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5307	PITX1	HP:0000175	Cleft palate	2/7	OMIM:615777
5307	PITX1	HP:0002079	Hypoplasia of the corpus callosum	1/3	OMIM:119800
5307	PITX1	HP:0003388	Easy fatigability	36/76	OMIM:131300
5307	PITX1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5307	PITX1	HP:0009556	Absent tibia	1/3	OMIM:119800
5307	PITX1	HP:0003577	Congenital onset	-	OMIM:119800
5307	PITX1	HP:0002280	Enlarged cisterna magna	1/3	OMIM:119800
5307	PITX1	HP:0010691	Mirror image foot polydactyly	2/3	OMIM:119800
5307	PITX1	HP:0003510	Severe short stature	7/7	OMIM:615777
5307	PITX1	HP:0002315	Headache	-	OMIM:131300
5307	PITX1	HP:0004976	Knee dislocation	6/7	OMIM:615777
5307	PITX1	HP:0009832	Abnormal distal phalanx morphology of finger	HP:0040281	ORPHA:1275
5307	PITX1	HP:0009803	Short phalanx of finger	-	OMIM:615777
5307	PITX1	HP:0009763	Limb pain	63/92	OMIM:131300
5307	PITX1	HP:0009756	Popliteal pterygium	1/3	OMIM:119800
5307	PITX1	HP:0003621	Juvenile onset	-	OMIM:131300
5307	PITX1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5307	PITX1	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:1275
5307	PITX1	HP:0009099	Median cleft palate	1/3	OMIM:119800
5307	PITX1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5307	PITX1	HP:6001056	Out-toeing	-	OMIM:131300
5307	PITX1	HP:0000651	Diplopia	-	OMIM:131300
5307	PITX1	HP:0001956	Truncal obesity	2/7	OMIM:615777
5307	PITX1	HP:0001903	Anemia	HP:0040283	OMIM:131300
5307	PITX1	HP:0010049	Short metacarpal	-	OMIM:615777
5307	PITX1	HP:0000678	Dental crowding	-	OMIM:615777
5307	PITX1	HP:0000670	Carious teeth	-	OMIM:131300
5307	PITX1	HP:0011304	Broad thumb	2/7	OMIM:615777
5307	PITX1	HP:0000668	Hypodontia	-	OMIM:615777
5307	PITX1	HP:0000664	Synophrys	-	OMIM:615777
5307	PITX1	HP:0004322	Short stature	3/3	OMIM:119800
5307	PITX1	HP:0004396	Poor appetite	-	OMIM:131300
5307	PITX1	HP:0003065	Patellar hypoplasia	3/5	OMIM:119800
5307	PITX1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5307	PITX1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5307	PITX1	HP:0003042	Elbow dislocation	HP:0040281	ORPHA:1275
5307	PITX1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5307	PITX1	HP:0003026	Short long bone	7/7	OMIM:615777
5307	PITX1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5307	PITX1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5307	PITX1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5307	PITX1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5307	PITX1	HP:0000750	Delayed speech and language development	-	OMIM:615777
5307	PITX1	HP:0011461	Fetal onset	7/7	OMIM:615777
5307	PITX1	HP:0000774	Narrow chest	2/7	OMIM:615777
5307	PITX1	HP:0000926	Platyspondyly	1/7	OMIM:615777
5307	PITX1	HP:0003180	Flat acetabular roof	-	OMIM:615777
5307	PITX1	HP:0004482	Relative macrocephaly	-	OMIM:615777
5307	PITX1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5307	PITX1	HP:0000823	Delayed puberty	-	OMIM:131300
5307	PITX1	HP:0040071	Abnormal morphology of ulna	HP:0040281	ORPHA:1275
5307	PITX1	HP:0000894	Short clavicles	-	OMIM:615777
5307	PITX1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5307	PITX1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5307	PITX1	HP:0000286	Epicanthus	1/7	OMIM:615777
5307	PITX1	HP:0000280	Coarse facial features	2/7	OMIM:615777
5307	PITX1	HP:0000256	Macrocephaly	HP:0040281	ORPHA:1275
5307	PITX1	HP:0002827	Hip dislocation	3/7	OMIM:615777
5307	PITX1	HP:0005048	Synostosis of carpal bones	HP:0040281	ORPHA:1275
5307	PITX1	HP:0000252	Microcephaly	-	OMIM:615777
5307	PITX1	HP:0002857	Genu valgum	-	OMIM:131300
5307	PITX1	HP:0001533	Slender build	-	OMIM:131300
5307	PITX1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5307	PITX1	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:1275
5307	PITX1	HP:0007807	Optic nerve compression	-	OMIM:131300
5307	PITX1	HP:0012368	Flat face	7/7	OMIM:615777
5307	PITX1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5307	PITX1	HP:0000365	Hearing impairment	10/67	OMIM:131300
5307	PITX1	HP:0000369	Low-set ears	1/3	OMIM:119800
5307	PITX1	HP:0000343	Long philtrum	1/7	OMIM:615777
5307	PITX1	HP:0011001	Increased bone mineral density	-	OMIM:131300
5307	PITX1	HP:0000316	Hypertelorism	1/3	OMIM:119800
5307	PITX1	HP:0000311	Round face	2/7	OMIM:615777
5307	PITX1	HP:0002970	Genu varum	-	OMIM:615777
5307	PITX1	HP:0000303	Mandibular prognathia	-	OMIM:131300
5307	PITX1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5307	PITX1	HP:0005280	Depressed nasal bridge	1/3	OMIM:119800
5307	PITX1	HP:0000494	Downslanted palpebral fissures	1/3	OMIM:119800
5307	PITX1	HP:0000470	Short neck	1/7	OMIM:615777
5307	PITX1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5307	PITX1	HP:0001763	Pes planus	1/7	OMIM:615777
5307	PITX1	HP:0001776	Bilateral talipes equinovarus	11/12	OMIM:119800
5307	PITX1	HP:0001762	Talipes equinovarus	-	OMIM:119800
5307	PITX1	HP:0001841	Preaxial foot polydactyly	1/6	OMIM:119800
5307	PITX1	HP:0001840	Metatarsus adductus	-	OMIM:615777
5307	PITX1	HP:0000520	Proptosis	2/4	OMIM:131300
5307	PITX1	HP:0000520	Proptosis	7/7	OMIM:615777
5307	PITX1	HP:0000592	Blue sclerae	2/7	OMIM:615777
5307	PITX1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5307	PITX1	HP:0012514	Lower limb pain	4/4	OMIM:131300
5308	PITX2	HP:0009918	Ectopia pupillae	1/1	OMIM:180500
5308	PITX2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5308	PITX2	HP:0001293	Cranial nerve compression	-	OMIM:131300
5308	PITX2	HP:0001279	Syncope	HP:0040282	ORPHA:334
5308	PITX2	HP:0001252	Hypotonia	2/7	OMIM:615777
5308	PITX2	HP:0001249	Intellectual disability	5/7	OMIM:615777
5308	PITX2	HP:0001263	Global developmental delay	-	OMIM:615777
5308	PITX2	HP:0002515	Waddling gait	54/102	OMIM:131300
5308	PITX2	HP:0003828	Variable expressivity	-	OMIM:180500
5308	PITX2	HP:0025348	Abnormal corneal limbus morphology	-	OMIM:180550
5308	PITX2	HP:0001382	Joint hypermobility	-	OMIM:615777
5308	PITX2	HP:0000047	Hypospadias	HP:0040283	ORPHA:782
5308	PITX2	HP:0000047	Hypospadias	-	OMIM:180500
5308	PITX2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5308	PITX2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5308	PITX2	HP:0031159	Thinning of Descemet membrane	HP:0040281	ORPHA:708
5308	PITX2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5308	PITX2	HP:0001324	Muscle weakness	40/96	OMIM:131300
5308	PITX2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5308	PITX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5308	PITX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5308	PITX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180550
5308	PITX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180500
5308	PITX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:137600
5308	PITX2	HP:0002650	Scoliosis	12/14	OMIM:131300
5308	PITX2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5308	PITX2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5308	PITX2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5308	PITX2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5308	PITX2	HP:0000164	Abnormality of the dentition	HP:0040281	OMIM:137600
5308	PITX2	HP:0000175	Cleft palate	2/7	OMIM:615777
5308	PITX2	HP:0007676	Hypoplasia of the iris	1/1	OMIM:180500
5308	PITX2	HP:0500070	Conjunctival dermolipoma	-	OMIM:180550
5308	PITX2	HP:0002025	Anal stenosis	-	OMIM:180500
5308	PITX2	HP:0002025	Anal stenosis	HP:0040283	ORPHA:782
5308	PITX2	HP:0002023	Anal atresia	-	OMIM:180500
5308	PITX2	HP:0011800	Midface retrusion	HP:0040282	ORPHA:782
5308	PITX2	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
5308	PITX2	HP:0003388	Easy fatigability	36/76	OMIM:131300
5308	PITX2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5308	PITX2	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
5308	PITX2	HP:0100749	Chest pain	HP:0040282	ORPHA:334
5308	PITX2	HP:0003510	Severe short stature	7/7	OMIM:615777
5308	PITX2	HP:0002321	Vertigo	HP:0040282	ORPHA:334
5308	PITX2	HP:0002315	Headache	-	OMIM:131300
5308	PITX2	HP:0004976	Knee dislocation	6/7	OMIM:615777
5308	PITX2	HP:0009803	Short phalanx of finger	-	OMIM:615777
5308	PITX2	HP:0001087	Developmental glaucoma	HP:0040282	ORPHA:708
5308	PITX2	HP:0009763	Limb pain	63/92	OMIM:131300
5308	PITX2	HP:0003621	Juvenile onset	-	OMIM:131300
5308	PITX2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5308	PITX2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5308	PITX2	HP:0000639	Nystagmus	HP:0040284	ORPHA:708
5308	PITX2	HP:0001962	Palpitations	HP:0040282	ORPHA:334
5308	PITX2	HP:6001056	Out-toeing	-	OMIM:131300
5308	PITX2	HP:0000651	Diplopia	-	OMIM:131300
5308	PITX2	HP:0000646	Amblyopia	-	OMIM:180550
5308	PITX2	HP:0000627	Posterior embryotoxon	HP:0040281	ORPHA:782
5308	PITX2	HP:0000627	Posterior embryotoxon	1/1	OMIM:180500
5308	PITX2	HP:0001956	Truncal obesity	2/7	OMIM:615777
5308	PITX2	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
5308	PITX2	HP:0001903	Anemia	HP:0040283	OMIM:131300
5308	PITX2	HP:0010049	Short metacarpal	-	OMIM:615777
5308	PITX2	HP:0000678	Dental crowding	-	OMIM:615777
5308	PITX2	HP:0000677	Oligodontia	1/1	OMIM:180500
5308	PITX2	HP:0000691	Microdontia	HP:0040283	ORPHA:782
5308	PITX2	HP:0000691	Microdontia	1/1	OMIM:180500
5308	PITX2	HP:0000659	Peters anomaly	HP:0040280	ORPHA:708
5308	PITX2	HP:0000670	Carious teeth	-	OMIM:131300
5308	PITX2	HP:0011304	Broad thumb	2/7	OMIM:615777
5308	PITX2	HP:0000668	Hypodontia	HP:0040283	ORPHA:782
5308	PITX2	HP:0000668	Hypodontia	-	OMIM:615777
5308	PITX2	HP:0000668	Hypodontia	-	OMIM:180500
5308	PITX2	HP:0001999	Abnormal facial shape	-	OMIM:137600
5308	PITX2	HP:0000664	Synophrys	-	OMIM:615777
5308	PITX2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:782
5308	PITX2	HP:0004396	Poor appetite	-	OMIM:131300
5308	PITX2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5308	PITX2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5308	PITX2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5308	PITX2	HP:0003026	Short long bone	7/7	OMIM:615777
5308	PITX2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5308	PITX2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5308	PITX2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5308	PITX2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5308	PITX2	HP:0000750	Delayed speech and language development	-	OMIM:615777
5308	PITX2	HP:0011493	Central opacification of the cornea	HP:0040281	ORPHA:708
5308	PITX2	HP:0011483	Anterior synechiae of the anterior chamber	HP:0040281	ORPHA:708
5308	PITX2	HP:0011461	Fetal onset	7/7	OMIM:615777
5308	PITX2	HP:0000774	Narrow chest	2/7	OMIM:615777
5308	PITX2	HP:0000926	Platyspondyly	1/7	OMIM:615777
5308	PITX2	HP:0003180	Flat acetabular roof	-	OMIM:615777
5308	PITX2	HP:0004482	Relative macrocephaly	-	OMIM:615777
5308	PITX2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5308	PITX2	HP:0011500	Polycoria	-	OMIM:180500
5308	PITX2	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:782
5308	PITX2	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:180500
5308	PITX2	HP:0000823	Delayed puberty	-	OMIM:131300
5308	PITX2	HP:0000894	Short clavicles	-	OMIM:615777
5308	PITX2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5308	PITX2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5308	PITX2	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040281	ORPHA:782
5308	PITX2	HP:0000286	Epicanthus	1/7	OMIM:615777
5308	PITX2	HP:0000280	Coarse facial features	2/7	OMIM:615777
5308	PITX2	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
5308	PITX2	HP:0007759	Opacification of the corneal stroma	HP:0040281	ORPHA:708
5308	PITX2	HP:0007730	Iris hypopigmentation	HP:0040281	OMIM:137600
5308	PITX2	HP:0002827	Hip dislocation	3/7	OMIM:615777
5308	PITX2	HP:0000252	Microcephaly	-	OMIM:615777
5308	PITX2	HP:0001582	Redundant skin	HP:0040283	ORPHA:782
5308	PITX2	HP:0000219	Thin upper lip vermilion	20/20	OMIM:180500
5308	PITX2	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:782
5308	PITX2	HP:0002857	Genu valgum	-	OMIM:131300
5308	PITX2	HP:0001533	Slender build	-	OMIM:131300
5308	PITX2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5308	PITX2	HP:0001510	Growth delay	HP:0040283	ORPHA:782
5308	PITX2	HP:0007807	Optic nerve compression	-	OMIM:131300
5308	PITX2	HP:0012378	Fatigue	HP:0040282	ORPHA:334
5308	PITX2	HP:0012368	Flat face	7/7	OMIM:615777
5308	PITX2	HP:0007873	Abnormally prominent line of Schwalbe	-	OMIM:180500
5308	PITX2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5308	PITX2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:782
5308	PITX2	HP:0000365	Hearing impairment	10/67	OMIM:131300
5308	PITX2	HP:0000343	Long philtrum	1/7	OMIM:615777
5308	PITX2	HP:0011001	Increased bone mineral density	-	OMIM:131300
5308	PITX2	HP:0000336	Prominent supraorbital ridges	-	OMIM:180500
5308	PITX2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:782
5308	PITX2	HP:0025612	Corneal astigmatism	-	OMIM:180550
5308	PITX2	HP:0000311	Round face	2/7	OMIM:615777
5308	PITX2	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
5308	PITX2	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:782
5308	PITX2	HP:0000327	Hypoplasia of the maxilla	-	OMIM:180500
5308	PITX2	HP:0000322	Short philtrum	-	OMIM:180500
5308	PITX2	HP:0002970	Genu varum	-	OMIM:615777
5308	PITX2	HP:0000303	Mandibular prognathia	-	OMIM:131300
5308	PITX2	HP:0007990	Hypoplastic iris stroma	HP:0040281	OMIM:137600
5308	PITX2	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
5308	PITX2	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:782
5308	PITX2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5308	PITX2	HP:0000486	Strabismus	-	OMIM:180500
5308	PITX2	HP:0000486	Strabismus	HP:0040284	ORPHA:708
5308	PITX2	HP:0000485	Megalocornea	-	OMIM:180500
5308	PITX2	HP:0000482	Microcornea	-	OMIM:180500
5308	PITX2	HP:0000481	Abnormal cornea morphology	-	OMIM:180550
5308	PITX2	HP:0000470	Short neck	1/7	OMIM:615777
5308	PITX2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5308	PITX2	HP:0001763	Pes planus	1/7	OMIM:615777
5308	PITX2	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:782
5308	PITX2	HP:0000431	Wide nasal bridge	-	OMIM:180500
5308	PITX2	HP:0001840	Metatarsus adductus	-	OMIM:615777
5308	PITX2	HP:0000526	Aniridia	-	OMIM:180500
5308	PITX2	HP:0000520	Proptosis	2/4	OMIM:131300
5308	PITX2	HP:0000520	Proptosis	7/7	OMIM:615777
5308	PITX2	HP:0000523	Subcapsular cataract	HP:0040281	ORPHA:708
5308	PITX2	HP:0000506	Telecanthus	HP:0040283	ORPHA:782
5308	PITX2	HP:0000502	Abnormal conjunctiva morphology	-	OMIM:180550
5308	PITX2	HP:0000501	Glaucoma	HP:0040281	OMIM:137600
5308	PITX2	HP:0000501	Glaucoma	HP:0040282	ORPHA:782
5308	PITX2	HP:0000501	Glaucoma	-	OMIM:180500
5308	PITX2	HP:0000593	Abnormal anterior chamber morphology	HP:0040281	ORPHA:782
5308	PITX2	HP:0000592	Blue sclerae	2/7	OMIM:615777
5308	PITX2	HP:0011220	Prominent forehead	HP:0040283	ORPHA:782
5308	PITX2	HP:0000558	Rieger anomaly	-	OMIM:180500
5308	PITX2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5308	PITX2	HP:0012514	Lower limb pain	4/4	OMIM:131300
5309	PITX3	HP:0001115	Posterior polar cataract	98/98	OMIM:107250
5309	PITX3	HP:0001276	Hypertonia	-	OMIM:610623
5309	PITX3	HP:0001249	Intellectual disability	-	OMIM:610623
5309	PITX3	HP:0000007	Autosomal recessive inheritance	-	OMIM:610623
5309	PITX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:107250
5309	PITX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:610623
5309	PITX3	HP:0001315	Reduced tendon reflexes	-	OMIM:610623
5309	PITX3	HP:0002072	Chorea	-	OMIM:610623
5309	PITX3	HP:0003577	Congenital onset	2/2	OMIM:610623
5309	PITX3	HP:0000618	Blindness	-	OMIM:610623
5309	PITX3	HP:0000659	Peters anomaly	-	OMIM:107250
5309	PITX3	HP:0007700	Ocular anterior segment dysgenesis	12/60	OMIM:107250
5309	PITX3	HP:0007759	Opacification of the corneal stroma	-	OMIM:107250
5309	PITX3	HP:0007906	Ocular hypertension	-	OMIM:107250
5309	PITX3	HP:0000482	Microcornea	-	OMIM:107250
5309	PITX3	HP:0000518	Cataract	-	OMIM:610623
5309	PITX3	HP:0000519	Developmental cataract	2/2	OMIM:610623
5309	PITX3	HP:0000568	Microphthalmia	-	OMIM:610623
5310	PKD1	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:730
5310	PKD1	HP:0008672	Calcium oxalate nephrolithiasis	HP:0040283	ORPHA:730
5310	PKD1	HP:0000083	Renal insufficiency	HP:0040281	ORPHA:730
5310	PKD1	HP:0000083	Renal insufficiency	-	OMIM:173900
5310	PKD1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:730
5310	PKD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:173900
5310	PKD1	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:730
5310	PKD1	HP:0000113	Polycystic kidney dysplasia	-	OMIM:173900
5310	PKD1	HP:0000107	Renal cyst	HP:0040281	ORPHA:730
5310	PKD1	HP:0000105	Enlarged kidney	HP:0040283	ORPHA:730
5310	PKD1	HP:0001407	Hepatic cysts	HP:0040281	ORPHA:730
5310	PKD1	HP:0001407	Hepatic cysts	-	OMIM:173900
5310	PKD1	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040284	ORPHA:730
5310	PKD1	HP:0100702	Arachnoid cyst	HP:0040283	ORPHA:730
5310	PKD1	HP:0002253	Colonic diverticula	-	OMIM:173900
5310	PKD1	HP:0007029	Cerebral berry aneurysm	4/88	OMIM:173900
5310	PKD1	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:730
5310	PKD1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:730
5310	PKD1	HP:0000791	Uric acid nephrolithiasis	HP:0040283	ORPHA:730
5310	PKD1	HP:0000790	Hematuria	HP:0040282	ORPHA:730
5310	PKD1	HP:0000822	Hypertension	-	OMIM:173900
5310	PKD1	HP:0000822	Hypertension	HP:0040282	ORPHA:730
5310	PKD1	HP:0003259	Elevated circulating creatinine concentration	HP:0040281	ORPHA:730
5310	PKD1	HP:0012213	Decreased glomerular filtration rate	HP:0040281	ORPHA:730
5310	PKD1	HP:0012207	Reduced sperm motility	HP:0040283	ORPHA:730
5310	PKD1	HP:0006557	Polycystic liver disease	HP:0040283	ORPHA:730
5310	PKD1	HP:0011004	Abnormal systemic arterial morphology	HP:0040283	ORPHA:730
5310	PKD1	HP:0012330	Pyelonephritis	HP:0040283	ORPHA:730
5310	PKD1	HP:0001653	Mitral regurgitation	51/163	OMIM:173900
5310	PKD1	HP:0030157	Flank pain	HP:0040282	ORPHA:730
5310	PKD1	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:730
5310	PKD1	HP:0001634	Mitral valve prolapse	42/163	OMIM:173900
5310	PKD1	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:730
5310	PKD1	HP:0012591	Abnormal urinary electrolyte concentration	HP:0040282	ORPHA:730
5310	PKD1	HP:0012592	Albuminuria	HP:0040282	ORPHA:730
5311	PKD2	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:730
5311	PKD2	HP:0003774	Stage 5 chronic kidney disease	0/1	OMIM:613095
5311	PKD2	HP:0008672	Calcium oxalate nephrolithiasis	HP:0040283	ORPHA:730
5311	PKD2	HP:0003829	Typified by incomplete penetrance	-	OMIM:613095
5311	PKD2	HP:0000083	Renal insufficiency	HP:0040281	ORPHA:730
5311	PKD2	HP:0000083	Renal insufficiency	-	OMIM:613095
5311	PKD2	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:730
5311	PKD2	HP:0000010	Recurrent urinary tract infections	-	OMIM:613095
5311	PKD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613095
5311	PKD2	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:730
5311	PKD2	HP:0006254	Elevated circulating alpha-fetoprotein concentration	1/1	OMIM:613095
5311	PKD2	HP:0000113	Polycystic kidney dysplasia	7/7	OMIM:613095
5311	PKD2	HP:0000107	Renal cyst	HP:0040281	ORPHA:730
5311	PKD2	HP:0000105	Enlarged kidney	HP:0040283	ORPHA:730
5311	PKD2	HP:0001407	Hepatic cysts	HP:0040281	ORPHA:730
5311	PKD2	HP:0001407	Hepatic cysts	6/8	OMIM:613095
5311	PKD2	HP:0011800	Midface retrusion	HP:0040283	OMIM:613095
5311	PKD2	HP:0030948	Elevated gamma-glutamyltransferase level	1/1	OMIM:613095
5311	PKD2	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040284	ORPHA:730
5311	PKD2	HP:0003596	Middle age onset	1/3	OMIM:613095
5311	PKD2	HP:0002240	Hepatomegaly	1/1	OMIM:613095
5311	PKD2	HP:0100702	Arachnoid cyst	HP:0040283	ORPHA:730
5311	PKD2	HP:0003676	Progressive	-	OMIM:613095
5311	PKD2	HP:0003621	Juvenile onset	2/3	OMIM:613095
5311	PKD2	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:730
5311	PKD2	HP:0005562	Multiple renal cysts	1/1	OMIM:613095
5311	PKD2	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:730
5311	PKD2	HP:0011462	Young adult onset	1/1	OMIM:613095
5311	PKD2	HP:0000791	Uric acid nephrolithiasis	HP:0040283	ORPHA:730
5311	PKD2	HP:0000790	Hematuria	HP:0040282	ORPHA:730
5311	PKD2	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:613095
5311	PKD2	HP:0000822	Hypertension	1/3	OMIM:613095
5311	PKD2	HP:0000822	Hypertension	HP:0040282	ORPHA:730
5311	PKD2	HP:0003259	Elevated circulating creatinine concentration	1/7	OMIM:613095
5311	PKD2	HP:0003259	Elevated circulating creatinine concentration	HP:0040281	ORPHA:730
5311	PKD2	HP:0000952	Jaundice	1/1	OMIM:613095
5311	PKD2	HP:0012213	Decreased glomerular filtration rate	HP:0040281	ORPHA:730
5311	PKD2	HP:0012207	Reduced sperm motility	HP:0040283	ORPHA:730
5311	PKD2	HP:0006557	Polycystic liver disease	HP:0040283	ORPHA:730
5311	PKD2	HP:0002900	Hypokalemia	1/1	OMIM:613095
5311	PKD2	HP:0001696	Situs inversus totalis	0/1	OMIM:613095
5311	PKD2	HP:0011004	Abnormal systemic arterial morphology	HP:0040283	ORPHA:730
5311	PKD2	HP:0012330	Pyelonephritis	HP:0040283	ORPHA:730
5311	PKD2	HP:0001651	Dextrocardia	HP:0040283	OMIM:613095
5311	PKD2	HP:0000324	Facial asymmetry	HP:0040283	OMIM:613095
5311	PKD2	HP:0030157	Flank pain	HP:0040282	ORPHA:730
5311	PKD2	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:730
5311	PKD2	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:730
5311	PKD2	HP:0012591	Abnormal urinary electrolyte concentration	HP:0040282	ORPHA:730
5311	PKD2	HP:0012592	Albuminuria	HP:0040282	ORPHA:730
5313	PKLR	HP:0025109	Reduced red cell pyruvate kinase level	1/1	OMIM:266200
5313	PKLR	HP:0025109	Reduced red cell pyruvate kinase level	HP:0040281	ORPHA:766
5313	PKLR	HP:0000007	Autosomal recessive inheritance	-	OMIM:266200
5313	PKLR	HP:0000006	Autosomal dominant inheritance	-	OMIM:102900
5313	PKLR	HP:0012132	Erythroid hyperplasia	2/2	OMIM:266200
5313	PKLR	HP:0003452	Increased circulating iron concentration	HP:0040282	ORPHA:766
5313	PKLR	HP:0008282	Unconjugated hyperbilirubinemia	HP:0040281	ORPHA:766
5313	PKLR	HP:0008282	Unconjugated hyperbilirubinemia	-	OMIM:266200
5313	PKLR	HP:0003577	Congenital onset	1/1	OMIM:266200
5313	PKLR	HP:0002240	Hepatomegaly	2/2	OMIM:266200
5313	PKLR	HP:0004870	Chronic hemolytic anemia	1/1	OMIM:266200
5313	PKLR	HP:0004870	Chronic hemolytic anemia	HP:0040281	ORPHA:766
5313	PKLR	HP:0020062	Decreased hemoglobin concentration	2/2	OMIM:266200
5313	PKLR	HP:0004804	Congenital hemolytic anemia	HP:0040282	ORPHA:766
5313	PKLR	HP:0001081	Cholelithiasis	-	OMIM:266200
5313	PKLR	HP:0001082	Cholecystitis	-	OMIM:266200
5313	PKLR	HP:0020181	Reduced haptoglobin level	1/1	OMIM:266200
5313	PKLR	HP:0005502	Increased red cell osmotic fragility	-	OMIM:266200
5313	PKLR	HP:0001923	Reticulocytosis	HP:0040281	ORPHA:766
5313	PKLR	HP:0001923	Reticulocytosis	1/1	OMIM:266200
5313	PKLR	HP:0001903	Anemia	HP:0040281	ORPHA:766
5313	PKLR	HP:0001901	Polycythemia	-	OMIM:102900
5313	PKLR	HP:0011463	Childhood onset	1/1	OMIM:266200
5313	PKLR	HP:0004447	Poikilocytosis	HP:0040283	ORPHA:766
5313	PKLR	HP:0003281	Increased circulating ferritin concentration	HP:0040282	ORPHA:766
5313	PKLR	HP:0000980	Pallor	1/1	OMIM:266200
5313	PKLR	HP:0000952	Jaundice	1/1	OMIM:266200
5313	PKLR	HP:0001511	Intrauterine growth retardation	HP:0040283	OMIM:266200
5313	PKLR	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:766
5313	PKLR	HP:0012463	Elevated transferrin saturation	HP:0040283	ORPHA:766
5313	PKLR	HP:0001790	Nonimmune hydrops fetalis	HP:0040283	OMIM:266200
5313	PKLR	HP:0001789	Hydrops fetalis	HP:0040282	ORPHA:766
5313	PKLR	HP:0030271	Reduced erythrocyte 2,3-diphosphoglycerate concentration	-	OMIM:102900
5313	PKLR	HP:0001744	Splenomegaly	HP:0040281	ORPHA:766
5313	PKLR	HP:0001744	Splenomegaly	2/2	OMIM:266200
5313	PKLR	HP:0011273	Anisocytosis	HP:0040283	ORPHA:766
5313	PKLR	HP:0001877	Abnormal erythrocyte morphology	HP:0040283	ORPHA:766
5314	PKHD1	HP:0025143	Chills	HP:0040283	ORPHA:53035
5314	PKHD1	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:731
5314	PKHD1	HP:0008659	Multiple small medullary renal cysts	1/16	OMIM:263200
5314	PKHD1	HP:0003811	Neonatal death	HP:0040283	OMIM:263200
5314	PKHD1	HP:0000083	Renal insufficiency	-	OMIM:263200
5314	PKHD1	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:731
5314	PKHD1	HP:0001396	Cholestasis	HP:0040281	ORPHA:53035
5314	PKHD1	HP:0001396	Cholestasis	HP:0040282	ORPHA:731
5314	PKHD1	HP:0001395	Hepatic fibrosis	HP:0040284	ORPHA:53035
5314	PKHD1	HP:0001395	Hepatic fibrosis	13/16	OMIM:263200
5314	PKHD1	HP:0001395	Hepatic fibrosis	HP:0040281	ORPHA:731
5314	PKHD1	HP:0001394	Cirrhosis	HP:0040283	ORPHA:53035
5314	PKHD1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:731
5314	PKHD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:263200
5314	PKHD1	HP:0002612	Congenital hepatic fibrosis	HP:0040282	ORPHA:731
5314	PKHD1	HP:0002613	Biliary cirrhosis	HP:0040284	ORPHA:53035
5314	PKHD1	HP:0002630	Fat malabsorption	HP:0040282	ORPHA:731
5314	PKHD1	HP:0000113	Polycystic kidney dysplasia	-	OMIM:263200
5314	PKHD1	HP:0000113	Polycystic kidney dysplasia	HP:0040283	ORPHA:53035
5314	PKHD1	HP:0000113	Polycystic kidney dysplasia	HP:0040281	ORPHA:731
5314	PKHD1	HP:0002791	Hypoventilation	HP:0040283	ORPHA:731
5314	PKHD1	HP:0032545	Abdominal rigidity	HP:0040283	ORPHA:53035
5314	PKHD1	HP:0000107	Renal cyst	15/16	OMIM:263200
5314	PKHD1	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:731
5314	PKHD1	HP:0000105	Enlarged kidney	-	OMIM:263200
5314	PKHD1	HP:0000105	Enlarged kidney	HP:0040281	ORPHA:731
5314	PKHD1	HP:0001409	Portal hypertension	-	OMIM:263200
5314	PKHD1	HP:0001409	Portal hypertension	HP:0040284	ORPHA:53035
5314	PKHD1	HP:0001409	Portal hypertension	HP:0040282	ORPHA:731
5314	PKHD1	HP:0001405	Periportal fibrosis	-	OMIM:263200
5314	PKHD1	HP:0001405	Periportal fibrosis	HP:0040281	ORPHA:731
5314	PKHD1	HP:0001405	Periportal fibrosis	-	ORPHA:53035
5314	PKHD1	HP:0001407	Hepatic cysts	-	OMIM:263200
5314	PKHD1	HP:0001406	Intrahepatic cholestasis	HP:0040282	ORPHA:53035
5314	PKHD1	HP:0002018	Nausea	HP:0040283	ORPHA:53035
5314	PKHD1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:53035
5314	PKHD1	HP:0002013	Vomiting	HP:0040283	ORPHA:53035
5314	PKHD1	HP:0002009	Potter facies	-	OMIM:263200
5314	PKHD1	HP:0100523	Liver abscess	HP:0040284	ORPHA:53035
5314	PKHD1	HP:0002089	Pulmonary hypoplasia	-	OMIM:263200
5314	PKHD1	HP:0002089	Pulmonary hypoplasia	HP:0040282	ORPHA:731
5314	PKHD1	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:731
5314	PKHD1	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040282	ORPHA:53035
5314	PKHD1	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040282	ORPHA:731
5314	PKHD1	HP:0002040	Esophageal varix	2/16	OMIM:263200
5314	PKHD1	HP:0002040	Esophageal varix	HP:0040283	ORPHA:53035
5314	PKHD1	HP:0002040	Esophageal varix	HP:0040282	ORPHA:731
5314	PKHD1	HP:0002039	Anorexia	HP:0040283	ORPHA:53035
5314	PKHD1	HP:0100520	Oliguria	HP:0040283	ORPHA:731
5314	PKHD1	HP:0100512	Decreased circulating vitamin D concentration	HP:0040282	ORPHA:731
5314	PKHD1	HP:0100513	Decreased circulating vitamin E concentration	HP:0040282	ORPHA:731
5314	PKHD1	HP:0002108	Spontaneous pneumothorax	HP:0040284	ORPHA:731
5314	PKHD1	HP:0011892	Decreased circulating vitamin K concentration	HP:0040282	ORPHA:731
5314	PKHD1	HP:0004719	Hyperechogenic kidneys	9/16	OMIM:263200
5314	PKHD1	HP:0003596	Middle age onset	2/16	OMIM:263200
5314	PKHD1	HP:0003593	Infantile onset	4/16	OMIM:263200
5314	PKHD1	HP:0003577	Congenital onset	3/16	OMIM:263200
5314	PKHD1	HP:0002243	Protein-losing enteropathy	HP:0040283	ORPHA:731
5314	PKHD1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:53035
5314	PKHD1	HP:0002240	Hepatomegaly	-	OMIM:263200
5314	PKHD1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:731
5314	PKHD1	HP:0002248	Hematemesis	2/16	OMIM:263200
5314	PKHD1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:731
5314	PKHD1	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:53035
5314	PKHD1	HP:0003623	Neonatal onset	2/16	OMIM:263200
5314	PKHD1	HP:0032106	Conjunctival icterus	HP:0040283	ORPHA:53035
5314	PKHD1	HP:0004905	Reduced circulating vitamin A concentration	HP:0040282	ORPHA:731
5314	PKHD1	HP:0005576	Tubulointerstitial fibrosis	-	OMIM:263200
5314	PKHD1	HP:0005565	Reduced renal corticomedullary differentiation	HP:0040282	ORPHA:731
5314	PKHD1	HP:0005564	Absence of renal corticomedullary differentiation	-	OMIM:263200
5314	PKHD1	HP:0001971	Hypersplenism	HP:0040282	ORPHA:731
5314	PKHD1	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:53035
5314	PKHD1	HP:0001944	Dehydration	-	OMIM:263200
5314	PKHD1	HP:0001945	Fever	HP:0040283	ORPHA:53035
5314	PKHD1	HP:0001959	Polydipsia	HP:0040283	ORPHA:731
5314	PKHD1	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:731
5314	PKHD1	HP:0031964	Elevated circulating alanine aminotransferase concentration	HP:0040283	ORPHA:53035
5314	PKHD1	HP:0030674	Antenatal onset	1/16	OMIM:263200
5314	PKHD1	HP:0011463	Childhood onset	1/16	OMIM:263200
5314	PKHD1	HP:0011462	Young adult onset	3/16	OMIM:263200
5314	PKHD1	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:53035
5314	PKHD1	HP:0000822	Hypertension	12/16	OMIM:263200
5314	PKHD1	HP:0000822	Hypertension	HP:0040281	ORPHA:731
5314	PKHD1	HP:0040064	Abnormality of limbs	HP:0040284	ORPHA:731
5314	PKHD1	HP:0045056	Abnormal circulating alpha-fetoprotein concentration	-	ORPHA:53035
5314	PKHD1	HP:0000989	Pruritus	HP:0040283	ORPHA:53035
5314	PKHD1	HP:0000952	Jaundice	HP:0040282	ORPHA:53035
5314	PKHD1	HP:0000952	Jaundice	HP:0040283	ORPHA:731
5314	PKHD1	HP:0002884	Hepatoblastoma	HP:0040283	ORPHA:731
5314	PKHD1	HP:0012202	Increased serum bile acid concentration	HP:0040282	ORPHA:731
5314	PKHD1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:731
5314	PKHD1	HP:0001562	Oligohydramnios	-	OMIM:263200
5314	PKHD1	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:731
5314	PKHD1	HP:0001541	Ascites	HP:0040283	ORPHA:53035
5314	PKHD1	HP:0001541	Ascites	HP:0040283	ORPHA:731
5314	PKHD1	HP:0001510	Growth delay	HP:0040282	ORPHA:731
5314	PKHD1	HP:0011040	Abnormal intrahepatic bile duct morphology	HP:0040282	ORPHA:731
5314	PKHD1	HP:0006560	Biliary hyperplasia	HP:0040282	ORPHA:731
5314	PKHD1	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:731
5314	PKHD1	HP:0002908	Conjugated hyperbilirubinemia	HP:0040282	ORPHA:53035
5314	PKHD1	HP:0002902	Hyponatremia	HP:0040282	ORPHA:731
5314	PKHD1	HP:0000369	Low-set ears	HP:0040284	ORPHA:731
5314	PKHD1	HP:0000347	Micrognathia	HP:0040284	ORPHA:731
5314	PKHD1	HP:0030153	Cholangiocarcinoma	HP:0040284	ORPHA:731
5314	PKHD1	HP:0030153	Cholangiocarcinoma	HP:0040284	ORPHA:53035
5314	PKHD1	HP:0030151	Cholangitis	HP:0040283	ORPHA:731
5314	PKHD1	HP:0030151	Cholangitis	HP:0040282	ORPHA:53035
5314	PKHD1	HP:0001737	Pancreatic cysts	-	OMIM:263200
5314	PKHD1	HP:0001737	Pancreatic cysts	HP:0040284	ORPHA:731
5314	PKHD1	HP:0000457	Depressed nasal ridge	HP:0040284	ORPHA:731
5314	PKHD1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:53035
5314	PKHD1	HP:0001744	Splenomegaly	3/16	OMIM:263200
5314	PKHD1	HP:0001744	Splenomegaly	HP:0040282	ORPHA:731
5314	PKHD1	HP:0001824	Weight loss	HP:0040283	ORPHA:53035
5314	PKHD1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:731
5317	PKP1	HP:0100806	Sepsis	HP:0040283	ORPHA:158668
5317	PKP1	HP:0100825	Cheilitis	HP:0040283	ORPHA:158668
5317	PKP1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:158668
5317	PKP1	HP:0007446	Palmoplantar blistering	1/1	OMIM:604536
5317	PKP1	HP:0007502	Follicular hyperkeratosis	HP:0040283	ORPHA:158668
5317	PKP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:604536
5317	PKP1	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:158668
5317	PKP1	HP:0002028	Chronic diarrhea	HP:0040283	ORPHA:158668
5317	PKP1	HP:0003577	Congenital onset	1/1	OMIM:604536
5317	PKP1	HP:0002223	Absent eyebrow	1/1	OMIM:604536
5317	PKP1	HP:0008404	Nail dystrophy	1/1	OMIM:604536
5317	PKP1	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:158668
5317	PKP1	HP:0002289	Alopecia universalis	HP:0040282	ORPHA:158668
5317	PKP1	HP:0002293	Alopecia of scalp	1/1	OMIM:604536
5317	PKP1	HP:0008391	Dystrophic fingernails	1/1	OMIM:604536
5317	PKP1	HP:0001030	Fragile skin	1/1	OMIM:604536
5317	PKP1	HP:0001030	Fragile skin	HP:0040281	ORPHA:158668
5317	PKP1	HP:0100699	Scarring	HP:0040283	ORPHA:158668
5317	PKP1	HP:0000670	Carious teeth	HP:0040283	ORPHA:158668
5317	PKP1	HP:0004322	Short stature	HP:0040283	ORPHA:158668
5317	PKP1	HP:0030809	Abnormal tongue morphology	HP:0040283	ORPHA:158668
5317	PKP1	HP:0000972	Palmoplantar hyperkeratosis	2/2	OMIM:604536
5317	PKP1	HP:0000989	Pruritus	HP:0040283	ORPHA:158668
5317	PKP1	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:158668
5317	PKP1	HP:0000970	Anhidrosis	1/1	OMIM:604536
5317	PKP1	HP:0000968	Ectodermal dysplasia	-	OMIM:604536
5317	PKP1	HP:0000966	Hypohidrosis	HP:0040282	ORPHA:158668
5317	PKP1	HP:0008070	Sparse hair	1/1	OMIM:604536
5317	PKP1	HP:0008070	Sparse hair	HP:0040282	ORPHA:158668
5317	PKP1	HP:0008066	Abnormal blistering of the skin	1/1	OMIM:604536
5317	PKP1	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:158668
5317	PKP1	HP:0040181	Chapped lip	HP:0040282	ORPHA:158668
5317	PKP1	HP:0040189	Scaling skin	1/1	OMIM:604536
5317	PKP1	HP:0040189	Scaling skin	HP:0040282	ORPHA:158668
5317	PKP1	HP:0012227	Urethral stricture	HP:0040283	ORPHA:158668
5317	PKP1	HP:0001581	Recurrent skin infections	HP:0040283	ORPHA:158668
5317	PKP1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:158668
5317	PKP1	HP:0005218	Anoperineal fistula	HP:0040283	ORPHA:158668
5317	PKP1	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:158668
5317	PKP1	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:158668
5317	PKP1	HP:0000561	Absent eyelashes	1/1	OMIM:604536
5318	PKP2	HP:0001279	Syncope	8/39	OMIM:609040
5318	PKP2	HP:0001279	Syncope	HP:0040282	ORPHA:130
5318	PKP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:609040
5318	PKP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
5318	PKP2	HP:0002094	Dyspnea	3/25	OMIM:609040
5318	PKP2	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
5318	PKP2	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
5318	PKP2	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
5318	PKP2	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
5318	PKP2	HP:0004756	Ventricular tachycardia	30/32	OMIM:609040
5318	PKP2	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
5318	PKP2	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
5318	PKP2	HP:0001962	Palpitations	9/25	OMIM:609040
5318	PKP2	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
5318	PKP2	HP:0011462	Young adult onset	-	OMIM:609040
5318	PKP2	HP:0034304	Epsilon wave	10/36	OMIM:609040
5318	PKP2	HP:0034364	Fibrofatty replacement of right ventricular myocardium	4/11	OMIM:609040
5318	PKP2	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
5318	PKP2	HP:0011663	Right ventricular cardiomyopathy	32/32	OMIM:609040
5318	PKP2	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
5318	PKP2	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
5318	PKP2	HP:0001695	Cardiac arrest	3/32	OMIM:609040
5318	PKP2	HP:0001664	Torsade de pointes	1/46	OMIM:115000
5318	PKP2	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
5318	PKP2	HP:0001645	Sudden cardiac death	1/32	OMIM:609040
5318	PKP2	HP:0001645	Sudden cardiac death	-	OMIM:115000
5318	PKP2	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
5318	PKP2	HP:0001663	Ventricular fibrillation	-	OMIM:115000
5318	PKP2	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
5318	PKP2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
5318	PKP2	HP:0006698	Dilatation of the ventricular cavity	-	OMIM:609040
5318	PKP2	HP:0006682	Premature ventricular contraction	13/18	OMIM:609040
5318	PKP2	HP:0006677	Prolonged QRS complex	15/25	OMIM:609040
5320	PLA2G2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
5320	PLA2G2A	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
5320	PLA2G2A	HP:0005584	Renal cell carcinoma	-	OMIM:114500
5320	PLA2G2A	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
5320	PLA2G2A	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
5320	PLA2G2A	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
5320	PLA2G2A	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
5321	PLA2G4A	HP:0032244	Decreased serum thromboxane B2	-	OMIM:618372
5321	PLA2G4A	HP:0002592	Gastric ulcer	-	OMIM:618372
5321	PLA2G4A	HP:0002588	Duodenal ulcer	-	OMIM:618372
5321	PLA2G4A	HP:0000007	Autosomal recessive inheritance	-	OMIM:618372
5321	PLA2G4A	HP:0032575	Decreased circulating 12-HETE	-	OMIM:618372
5321	PLA2G4A	HP:0004791	Esophageal ulceration	-	OMIM:618372
5321	PLA2G4A	HP:0003540	Impaired platelet aggregation	-	OMIM:618372
5321	PLA2G4A	HP:0030361	Abnormal circulating eicosanoid concentration	-	OMIM:618372
5321	PLA2G4A	HP:0001891	Iron deficiency anemia	-	OMIM:618372
5322	PLA2G5	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5322	PLA2G5	HP:0012045	Retinal flecks	7/7	OMIM:228980
5322	PLA2G5	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5322	PLA2G5	HP:0000007	Autosomal recessive inheritance	-	OMIM:228980
5322	PLA2G5	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5322	PLA2G5	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5322	PLA2G5	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5322	PLA2G5	HP:0003621	Juvenile onset	8/19	OMIM:180100
5322	PLA2G5	HP:0000662	Nyctalopia	0/7	OMIM:228980
5322	PLA2G5	HP:0000662	Nyctalopia	26/28	OMIM:180100
5322	PLA2G5	HP:0011463	Childhood onset	3/19	OMIM:180100
5322	PLA2G5	HP:0011462	Young adult onset	8/19	OMIM:180100
5322	PLA2G5	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5322	PLA2G5	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5322	PLA2G5	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5322	PLA2G5	HP:0000505	Visual impairment	0/7	OMIM:228980
5322	PLA2G5	HP:0000575	Scotoma	5/18	OMIM:180100
5322	PLA2G5	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5322	PLA2G5	HP:0000545	Myopia	-	OMIM:180100
5324	PLAG1	HP:0001159	Syndactyly	HP:0040282	ORPHA:397590
5324	PLAG1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5324	PLAG1	HP:0001293	Cranial nerve compression	-	OMIM:131300
5324	PLAG1	HP:0001270	Motor delay	HP:0040282	ORPHA:397590
5324	PLAG1	HP:0001252	Hypotonia	2/7	OMIM:615777
5324	PLAG1	HP:0001249	Intellectual disability	5/7	OMIM:615777
5324	PLAG1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:397590
5324	PLAG1	HP:0001263	Global developmental delay	-	OMIM:615777
5324	PLAG1	HP:0002515	Waddling gait	54/102	OMIM:131300
5324	PLAG1	HP:0000045	Abnormal scrotum morphology	HP:0040282	ORPHA:397590
5324	PLAG1	HP:0001382	Joint hypermobility	-	OMIM:615777
5324	PLAG1	HP:0000048	Bifid scrotum	HP:0040283	ORPHA:397590
5324	PLAG1	HP:0000047	Hypospadias	HP:0040282	ORPHA:397590
5324	PLAG1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:397590
5324	PLAG1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5324	PLAG1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:397590
5324	PLAG1	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:397590
5324	PLAG1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5324	PLAG1	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:397590
5324	PLAG1	HP:0008872	Feeding difficulties in infancy	4/4	OMIM:618907
5324	PLAG1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5324	PLAG1	HP:0001324	Muscle weakness	40/96	OMIM:131300
5324	PLAG1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5324	PLAG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5324	PLAG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618907
5324	PLAG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5324	PLAG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:181030
5324	PLAG1	HP:0002650	Scoliosis	12/14	OMIM:131300
5324	PLAG1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5324	PLAG1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5324	PLAG1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5324	PLAG1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5324	PLAG1	HP:0000175	Cleft palate	HP:0040282	ORPHA:397590
5324	PLAG1	HP:0000175	Cleft palate	2/7	OMIM:615777
5324	PLAG1	HP:0006266	Small placenta	HP:0040283	ORPHA:397590
5324	PLAG1	HP:0001442	Typified by somatic mosaicism	-	OMIM:181030
5324	PLAG1	HP:0002007	Frontal bossing	HP:0040283	ORPHA:397590
5324	PLAG1	HP:0002099	Asthma	HP:0040283	ORPHA:397590
5324	PLAG1	HP:0100555	Asymmetric growth	HP:0040283	ORPHA:397590
5324	PLAG1	HP:0003388	Easy fatigability	36/76	OMIM:131300
5324	PLAG1	HP:0010442	Polydactyly	HP:0040283	ORPHA:397590
5324	PLAG1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5324	PLAG1	HP:0003561	Birth length less than 3rd percentile	5/5	OMIM:618907
5324	PLAG1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:397590
5324	PLAG1	HP:0003510	Severe short stature	7/7	OMIM:615777
5324	PLAG1	HP:0002315	Headache	-	OMIM:131300
5324	PLAG1	HP:0004976	Knee dislocation	6/7	OMIM:615777
5324	PLAG1	HP:0100684	Salivary gland neoplasm	-	OMIM:181030
5324	PLAG1	HP:0100607	Dysmenorrhea	HP:0040283	ORPHA:397590
5324	PLAG1	HP:0009803	Short phalanx of finger	-	OMIM:615777
5324	PLAG1	HP:0009763	Limb pain	63/92	OMIM:131300
5324	PLAG1	HP:0003621	Juvenile onset	-	OMIM:131300
5324	PLAG1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5324	PLAG1	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:397590
5324	PLAG1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5324	PLAG1	HP:6001056	Out-toeing	-	OMIM:131300
5324	PLAG1	HP:0000651	Diplopia	-	OMIM:131300
5324	PLAG1	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:397590
5324	PLAG1	HP:0001956	Truncal obesity	2/7	OMIM:615777
5324	PLAG1	HP:0001903	Anemia	HP:0040283	OMIM:131300
5324	PLAG1	HP:0010049	Short metacarpal	-	OMIM:615777
5324	PLAG1	HP:0000678	Dental crowding	-	OMIM:615777
5324	PLAG1	HP:0000670	Carious teeth	-	OMIM:131300
5324	PLAG1	HP:0011304	Broad thumb	2/7	OMIM:615777
5324	PLAG1	HP:0000668	Hypodontia	-	OMIM:615777
5324	PLAG1	HP:0000664	Synophrys	-	OMIM:615777
5324	PLAG1	HP:0004325	Decreased body weight	3/4	OMIM:618907
5324	PLAG1	HP:0004396	Poor appetite	-	OMIM:131300
5324	PLAG1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5324	PLAG1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5324	PLAG1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5324	PLAG1	HP:0003026	Short long bone	7/7	OMIM:615777
5324	PLAG1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5324	PLAG1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5324	PLAG1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5324	PLAG1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5324	PLAG1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:397590
5324	PLAG1	HP:0000750	Delayed speech and language development	-	OMIM:615777
5324	PLAG1	HP:0011461	Fetal onset	7/7	OMIM:615777
5324	PLAG1	HP:0000774	Narrow chest	2/7	OMIM:615777
5324	PLAG1	HP:0000926	Platyspondyly	1/7	OMIM:615777
5324	PLAG1	HP:0003180	Flat acetabular roof	-	OMIM:615777
5324	PLAG1	HP:0004482	Relative macrocephaly	HP:0040281	ORPHA:397590
5324	PLAG1	HP:0004482	Relative macrocephaly	-	OMIM:615777
5324	PLAG1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5324	PLAG1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:397590
5324	PLAG1	HP:0000823	Delayed puberty	-	OMIM:131300
5324	PLAG1	HP:0000894	Short clavicles	-	OMIM:615777
5324	PLAG1	HP:0009237	Short 5th finger	HP:0040282	ORPHA:397590
5324	PLAG1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5324	PLAG1	HP:0100257	Ectrodactyly	HP:0040283	ORPHA:397590
5324	PLAG1	HP:0000957	Cafe-au-lait spot	HP:0040283	ORPHA:397590
5324	PLAG1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5324	PLAG1	HP:0040196	Mild microcephaly	3/5	OMIM:618907
5324	PLAG1	HP:0000286	Epicanthus	1/7	OMIM:615777
5324	PLAG1	HP:0000280	Coarse facial features	2/7	OMIM:615777
5324	PLAG1	HP:0002827	Hip dislocation	3/7	OMIM:615777
5324	PLAG1	HP:0000252	Microcephaly	-	OMIM:615777
5324	PLAG1	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:397590
5324	PLAG1	HP:0002857	Genu valgum	-	OMIM:131300
5324	PLAG1	HP:0001533	Slender build	-	OMIM:131300
5324	PLAG1	HP:0001518	Small for gestational age	HP:0040281	ORPHA:397590
5324	PLAG1	HP:0001518	Small for gestational age	4/5	OMIM:618907
5324	PLAG1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:397590
5324	PLAG1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5324	PLAG1	HP:0007807	Optic nerve compression	-	OMIM:131300
5324	PLAG1	HP:0012368	Flat face	7/7	OMIM:615777
5324	PLAG1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5324	PLAG1	HP:0000365	Hearing impairment	10/67	OMIM:131300
5324	PLAG1	HP:0000369	Low-set ears	HP:0040282	ORPHA:397590
5324	PLAG1	HP:0000343	Long philtrum	1/7	OMIM:615777
5324	PLAG1	HP:0011001	Increased bone mineral density	-	OMIM:131300
5324	PLAG1	HP:0000347	Micrognathia	HP:0040281	ORPHA:397590
5324	PLAG1	HP:0000311	Round face	2/7	OMIM:615777
5324	PLAG1	HP:0000325	Triangular face	HP:0040281	ORPHA:397590
5324	PLAG1	HP:0000325	Triangular face	5/5	OMIM:618907
5324	PLAG1	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:397590
5324	PLAG1	HP:0002970	Genu varum	-	OMIM:615777
5324	PLAG1	HP:0000303	Mandibular prognathia	-	OMIM:131300
5324	PLAG1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5324	PLAG1	HP:0000470	Short neck	1/7	OMIM:615777
5324	PLAG1	HP:0030260	Microphallus	HP:0040283	ORPHA:397590
5324	PLAG1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5324	PLAG1	HP:0001763	Pes planus	1/7	OMIM:615777
5324	PLAG1	HP:0001840	Metatarsus adductus	-	OMIM:615777
5324	PLAG1	HP:0000520	Proptosis	2/4	OMIM:131300
5324	PLAG1	HP:0000520	Proptosis	7/7	OMIM:615777
5324	PLAG1	HP:0001804	Hypoplastic fingernail	HP:0040283	ORPHA:397590
5324	PLAG1	HP:0000592	Blue sclerae	2/7	OMIM:615777
5324	PLAG1	HP:0011220	Prominent forehead	HP:0040281	ORPHA:397590
5324	PLAG1	HP:0011220	Prominent forehead	4/5	OMIM:618907
5324	PLAG1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5324	PLAG1	HP:0012514	Lower limb pain	4/4	OMIM:131300
5325	PLAGL1	HP:0010866	Abdominal wall defect	HP:0040283	ORPHA:96191
5325	PLAGL1	HP:0001250	Seizure	HP:0040283	ORPHA:99886
5325	PLAGL1	HP:0001252	Hypotonia	HP:0040283	ORPHA:99886
5325	PLAGL1	HP:0000065	Labial hypertrophy	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:99886
5325	PLAGL1	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:99886
5325	PLAGL1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:96191
5325	PLAGL1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:601410
5325	PLAGL1	HP:0002643	Neonatal respiratory distress	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0000158	Macroglossia	HP:0040282	ORPHA:99886
5325	PLAGL1	HP:0000158	Macroglossia	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0008255	Transient neonatal diabetes mellitus	-	OMIM:601410
5325	PLAGL1	HP:0008255	Transient neonatal diabetes mellitus	HP:0040282	ORPHA:99886
5325	PLAGL1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0100767	Abnormal placenta morphology	HP:0040283	ORPHA:96191
5325	PLAGL1	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:99886
5325	PLAGL1	HP:0004904	Maturity-onset diabetes of the young	HP:0040282	ORPHA:99886
5325	PLAGL1	HP:0001944	Dehydration	HP:0040281	ORPHA:99886
5325	PLAGL1	HP:0001944	Dehydration	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0001944	Dehydration	-	OMIM:601410
5325	PLAGL1	HP:0001953	Diabetic ketoacidosis	HP:0040284	ORPHA:99886
5325	PLAGL1	HP:0003074	Hyperglycemia	-	OMIM:601410
5325	PLAGL1	HP:0003074	Hyperglycemia	HP:0040281	ORPHA:99886
5325	PLAGL1	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:99886
5325	PLAGL1	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:99886
5325	PLAGL1	HP:0000857	Neonatal insulin-dependent diabetes mellitus	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0000826	Precocious puberty	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:99886
5325	PLAGL1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:99886
5325	PLAGL1	HP:0040216	Hypoinsulinemia	HP:0040281	ORPHA:99886
5325	PLAGL1	HP:0000278	Retrognathia	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0000269	Prominent occiput	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0030057	Autoimmune antibody positivity	-	ORPHA:99886
5325	PLAGL1	HP:0000237	Small anterior fontanelle	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0000218	High palate	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0000212	Gingival overgrowth	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0001562	Oligohydramnios	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0001525	Severe failure to thrive	-	OMIM:601410
5325	PLAGL1	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:99886
5325	PLAGL1	HP:0001537	Umbilical hernia	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:99886
5325	PLAGL1	HP:0001518	Small for gestational age	HP:0040281	ORPHA:99886
5325	PLAGL1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:99886
5325	PLAGL1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0001511	Intrauterine growth retardation	-	OMIM:601410
5325	PLAGL1	HP:0000363	Abnormal earlobe morphology	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:99886
5325	PLAGL1	HP:0000347	Micrognathia	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:96191
5325	PLAGL1	HP:0001629	Ventricular septal defect	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:99886
5325	PLAGL1	HP:0001640	Cardiomegaly	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0000448	Prominent nose	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0001804	Hypoplastic fingernail	HP:0040281	ORPHA:96191
5325	PLAGL1	HP:0000586	Shallow orbits	HP:0040281	ORPHA:96191
5328	PLAU	HP:0002423	Long-tract sign	-	OMIM:104300
5328	PLAU	HP:0002511	Alzheimer disease	-	OMIM:104300
5328	PLAU	HP:0000006	Autosomal dominant inheritance	-	OMIM:104300
5328	PLAU	HP:0000006	Autosomal dominant inheritance	-	OMIM:601709
5328	PLAU	HP:0001300	Parkinsonism	-	OMIM:104300
5328	PLAU	HP:0410054	Decreased circulating GABA concentration	-	OMIM:104300
5328	PLAU	HP:0000132	Menorrhagia	-	OMIM:601709
5328	PLAU	HP:0008148	Impaired epinephrine-induced platelet aggregation	-	OMIM:601709
5328	PLAU	HP:0002185	Neurofibrillary tangles	-	OMIM:104300
5328	PLAU	HP:0003581	Adult onset	-	OMIM:104300
5328	PLAU	HP:0000726	Dementia	-	OMIM:104300
5328	PLAU	HP:0000978	Bruising susceptibility	-	OMIM:601709
5328	PLAU	HP:0005261	Joint hemorrhage	-	OMIM:601709
5328	PLAU	HP:0000421	Epistaxis	-	OMIM:601709
5328	PLAU	HP:0001873	Thrombocytopenia	-	OMIM:601709
5331	PLCB3	HP:0001156	Brachydactyly	2/2	OMIM:618961
5331	PLCB3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5331	PLCB3	HP:0001293	Cranial nerve compression	-	OMIM:131300
5331	PLCB3	HP:0001252	Hypotonia	2/7	OMIM:615777
5331	PLCB3	HP:0001249	Intellectual disability	5/7	OMIM:615777
5331	PLCB3	HP:0001263	Global developmental delay	-	OMIM:615777
5331	PLCB3	HP:0002515	Waddling gait	54/102	OMIM:131300
5331	PLCB3	HP:0003819	Death in childhood	1/2	OMIM:618961
5331	PLCB3	HP:0001382	Joint hypermobility	-	OMIM:615777
5331	PLCB3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5331	PLCB3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5331	PLCB3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5331	PLCB3	HP:0001324	Muscle weakness	40/96	OMIM:131300
5331	PLCB3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5331	PLCB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:618961
5331	PLCB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5331	PLCB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5331	PLCB3	HP:0002650	Scoliosis	12/14	OMIM:131300
5331	PLCB3	HP:0001319	Neonatal hypotonia	2/2	OMIM:618961
5331	PLCB3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5331	PLCB3	HP:0002643	Neonatal respiratory distress	2/2	OMIM:618961
5331	PLCB3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5331	PLCB3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5331	PLCB3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5331	PLCB3	HP:0000175	Cleft palate	2/7	OMIM:615777
5331	PLCB3	HP:0003388	Easy fatigability	36/76	OMIM:131300
5331	PLCB3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5331	PLCB3	HP:0003510	Severe short stature	7/7	OMIM:615777
5331	PLCB3	HP:0002315	Headache	-	OMIM:131300
5331	PLCB3	HP:0004976	Knee dislocation	6/7	OMIM:615777
5331	PLCB3	HP:0100670	Coarse metaphyseal trabecularization	2/2	OMIM:618961
5331	PLCB3	HP:0009826	Limb undergrowth	2/2	OMIM:618961
5331	PLCB3	HP:0009803	Short phalanx of finger	-	OMIM:615777
5331	PLCB3	HP:0009763	Limb pain	63/92	OMIM:131300
5331	PLCB3	HP:0003621	Juvenile onset	-	OMIM:131300
5331	PLCB3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5331	PLCB3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5331	PLCB3	HP:6001056	Out-toeing	-	OMIM:131300
5331	PLCB3	HP:0000651	Diplopia	-	OMIM:131300
5331	PLCB3	HP:0001956	Truncal obesity	2/7	OMIM:615777
5331	PLCB3	HP:0001903	Anemia	HP:0040283	OMIM:131300
5331	PLCB3	HP:0010049	Short metacarpal	-	OMIM:615777
5331	PLCB3	HP:0011344	Severe global developmental delay	-	OMIM:618961
5331	PLCB3	HP:0000678	Dental crowding	-	OMIM:615777
5331	PLCB3	HP:0000670	Carious teeth	-	OMIM:131300
5331	PLCB3	HP:0011304	Broad thumb	2/7	OMIM:615777
5331	PLCB3	HP:0000668	Hypodontia	-	OMIM:615777
5331	PLCB3	HP:0000664	Synophrys	-	OMIM:615777
5331	PLCB3	HP:0004396	Poor appetite	-	OMIM:131300
5331	PLCB3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5331	PLCB3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5331	PLCB3	HP:0003016	Metaphyseal widening	2/2	OMIM:618961
5331	PLCB3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5331	PLCB3	HP:0003026	Short long bone	7/7	OMIM:615777
5331	PLCB3	HP:0003026	Short long bone	2/2	OMIM:618961
5331	PLCB3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5331	PLCB3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5331	PLCB3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5331	PLCB3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5331	PLCB3	HP:0000750	Delayed speech and language development	-	OMIM:615777
5331	PLCB3	HP:0011461	Fetal onset	7/7	OMIM:615777
5331	PLCB3	HP:0000774	Narrow chest	2/7	OMIM:615777
5331	PLCB3	HP:0000774	Narrow chest	2/2	OMIM:618961
5331	PLCB3	HP:0000773	Short ribs	2/2	OMIM:618961
5331	PLCB3	HP:0005787	Lumbar platyspondyly	2/2	OMIM:618961
5331	PLCB3	HP:0003196	Short nose	2/2	OMIM:618961
5331	PLCB3	HP:0000926	Platyspondyly	1/7	OMIM:615777
5331	PLCB3	HP:0003177	Squared iliac bones	2/2	OMIM:618961
5331	PLCB3	HP:0003180	Flat acetabular roof	-	OMIM:615777
5331	PLCB3	HP:0004482	Relative macrocephaly	-	OMIM:615777
5331	PLCB3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5331	PLCB3	HP:0000823	Delayed puberty	-	OMIM:131300
5331	PLCB3	HP:0000894	Short clavicles	-	OMIM:615777
5331	PLCB3	HP:0004568	Beaking of vertebral bodies	2/2	OMIM:618961
5331	PLCB3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5331	PLCB3	HP:0004592	Thoracic platyspondyly	2/2	OMIM:618961
5331	PLCB3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5331	PLCB3	HP:0000286	Epicanthus	1/7	OMIM:615777
5331	PLCB3	HP:0000280	Coarse facial features	2/7	OMIM:615777
5331	PLCB3	HP:0002827	Hip dislocation	3/7	OMIM:615777
5331	PLCB3	HP:0000252	Microcephaly	-	OMIM:615777
5331	PLCB3	HP:0002857	Genu valgum	-	OMIM:131300
5331	PLCB3	HP:0001533	Slender build	-	OMIM:131300
5331	PLCB3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5331	PLCB3	HP:0007807	Optic nerve compression	-	OMIM:131300
5331	PLCB3	HP:0012368	Flat face	7/7	OMIM:615777
5331	PLCB3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5331	PLCB3	HP:0000365	Hearing impairment	10/67	OMIM:131300
5331	PLCB3	HP:0000343	Long philtrum	1/7	OMIM:615777
5331	PLCB3	HP:0011001	Increased bone mineral density	-	OMIM:131300
5331	PLCB3	HP:0000316	Hypertelorism	2/2	OMIM:618961
5331	PLCB3	HP:0001643	Patent ductus arteriosus	2/2	OMIM:618961
5331	PLCB3	HP:0000311	Round face	2/7	OMIM:615777
5331	PLCB3	HP:0002970	Genu varum	-	OMIM:615777
5331	PLCB3	HP:0000303	Mandibular prognathia	-	OMIM:131300
5331	PLCB3	HP:0007957	Corneal opacity	2/2	OMIM:618961
5331	PLCB3	HP:0030320	Increased intervertebral space	2/2	OMIM:618961
5331	PLCB3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5331	PLCB3	HP:0005280	Depressed nasal bridge	2/2	OMIM:618961
5331	PLCB3	HP:0000463	Anteverted nares	2/2	OMIM:618961
5331	PLCB3	HP:0000470	Short neck	1/7	OMIM:615777
5331	PLCB3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5331	PLCB3	HP:0001763	Pes planus	1/7	OMIM:615777
5331	PLCB3	HP:0001840	Metatarsus adductus	-	OMIM:615777
5331	PLCB3	HP:0000520	Proptosis	2/4	OMIM:131300
5331	PLCB3	HP:0000520	Proptosis	7/7	OMIM:615777
5331	PLCB3	HP:0000520	Proptosis	2/2	OMIM:618961
5331	PLCB3	HP:0000592	Blue sclerae	2/7	OMIM:615777
5331	PLCB3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5331	PLCB3	HP:0012514	Lower limb pain	4/4	OMIM:131300
5332	PLCB4	HP:0009902	Cleft helix	HP:0040281	ORPHA:137888
5332	PLCB4	HP:0001140	Limbal dermoid	0/1	OMIM:620458
5332	PLCB4	HP:0003778	Short mandibular rami	-	OMIM:614669
5332	PLCB4	HP:0009895	Abnormality of the crus of the helix	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0008559	Hypoplastic superior helix	-	OMIM:614669
5332	PLCB4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5332	PLCB4	HP:0001293	Cranial nerve compression	-	OMIM:131300
5332	PLCB4	HP:0025267	Snoring	-	OMIM:614669
5332	PLCB4	HP:0025267	Snoring	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:137888
5332	PLCB4	HP:0001252	Hypotonia	2/11	OMIM:614669
5332	PLCB4	HP:0001252	Hypotonia	1/1	OMIM:620458
5332	PLCB4	HP:0001252	Hypotonia	2/7	OMIM:615777
5332	PLCB4	HP:0001249	Intellectual disability	5/7	OMIM:615777
5332	PLCB4	HP:0001263	Global developmental delay	HP:0040283	ORPHA:137888
5332	PLCB4	HP:0001263	Global developmental delay	-	OMIM:615777
5332	PLCB4	HP:0008772	Aplasia/Hypoplasia of the external ear	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0002515	Waddling gait	54/102	OMIM:131300
5332	PLCB4	HP:0000040	Long penis	2/2	OMIM:620458
5332	PLCB4	HP:0001382	Joint hypermobility	-	OMIM:615777
5332	PLCB4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5332	PLCB4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5332	PLCB4	HP:0008897	Postnatal growth retardation	1/1	OMIM:620458
5332	PLCB4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5332	PLCB4	HP:0001324	Muscle weakness	40/96	OMIM:131300
5332	PLCB4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5332	PLCB4	HP:0000007	Autosomal recessive inheritance	-	OMIM:614669
5332	PLCB4	HP:0000007	Autosomal recessive inheritance	-	OMIM:620458
5332	PLCB4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5332	PLCB4	HP:0000006	Autosomal dominant inheritance	-	OMIM:614669
5332	PLCB4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5332	PLCB4	HP:0002650	Scoliosis	12/14	OMIM:131300
5332	PLCB4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5332	PLCB4	HP:0002643	Neonatal respiratory distress	1/2	OMIM:620458
5332	PLCB4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5332	PLCB4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5332	PLCB4	HP:0000183	Tongue muscle weakness	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5332	PLCB4	HP:0000193	Bifid uvula	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0000160	Narrow mouth	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0000160	Narrow mouth	14/27	OMIM:614669
5332	PLCB4	HP:0000160	Narrow mouth	1/1	OMIM:620458
5332	PLCB4	HP:0000162	Glossoptosis	5/11	OMIM:614669
5332	PLCB4	HP:0000162	Glossoptosis	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0000175	Cleft palate	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0000175	Cleft palate	-	OMIM:614669
5332	PLCB4	HP:0000175	Cleft palate	2/7	OMIM:615777
5332	PLCB4	HP:0000171	Microglossia	2/11	OMIM:614669
5332	PLCB4	HP:0000171	Microglossia	HP:0040283	ORPHA:137888
5332	PLCB4	HP:0007627	Mandibular condyle aplasia	-	OMIM:614669
5332	PLCB4	HP:0007627	Mandibular condyle aplasia	HP:0040283	ORPHA:137888
5332	PLCB4	HP:0007628	Mandibular condyle hypoplasia	1/1	OMIM:620458
5332	PLCB4	HP:0007628	Mandibular condyle hypoplasia	-	OMIM:614669
5332	PLCB4	HP:0007628	Mandibular condyle hypoplasia	HP:0040281	ORPHA:137888
5332	PLCB4	HP:0003319	Abnormality of the cervical spine	0/1	OMIM:620458
5332	PLCB4	HP:0011802	Hamartoma of tongue	HP:0040283	ORPHA:137888
5332	PLCB4	HP:0002098	Respiratory distress	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0002098	Respiratory distress	8/22	OMIM:614669
5332	PLCB4	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:620458
5332	PLCB4	HP:0003388	Easy fatigability	36/76	OMIM:131300
5332	PLCB4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5332	PLCB4	HP:0002104	Apnea	-	OMIM:614669
5332	PLCB4	HP:0002179	Opisthotonus	1/1	OMIM:620458
5332	PLCB4	HP:0010536	Central sleep apnea	1/1	OMIM:620458
5332	PLCB4	HP:0003577	Congenital onset	5/5	OMIM:620458
5332	PLCB4	HP:0011968	Feeding difficulties	2/3	OMIM:620458
5332	PLCB4	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:137888
5332	PLCB4	HP:0011968	Feeding difficulties	4/19	OMIM:614669
5332	PLCB4	HP:0003510	Severe short stature	7/7	OMIM:615777
5332	PLCB4	HP:0002315	Headache	-	OMIM:131300
5332	PLCB4	HP:0004976	Knee dislocation	6/7	OMIM:615777
5332	PLCB4	HP:0008537	Cleft at the superior portion of the pinna	-	OMIM:614669
5332	PLCB4	HP:0009803	Short phalanx of finger	-	OMIM:615777
5332	PLCB4	HP:0010754	Abnormality of the temporomandibular joint	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0009763	Limb pain	63/92	OMIM:131300
5332	PLCB4	HP:0003621	Juvenile onset	-	OMIM:131300
5332	PLCB4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5332	PLCB4	HP:0009088	Speech articulation difficulties	-	OMIM:614669
5332	PLCB4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5332	PLCB4	HP:6001056	Out-toeing	-	OMIM:131300
5332	PLCB4	HP:0000651	Diplopia	-	OMIM:131300
5332	PLCB4	HP:0001956	Truncal obesity	2/7	OMIM:615777
5332	PLCB4	HP:0001903	Anemia	HP:0040283	OMIM:131300
5332	PLCB4	HP:0010049	Short metacarpal	-	OMIM:615777
5332	PLCB4	HP:0011342	Mild global developmental delay	3/13	OMIM:614669
5332	PLCB4	HP:0000678	Dental crowding	-	OMIM:614669
5332	PLCB4	HP:0000678	Dental crowding	-	OMIM:615777
5332	PLCB4	HP:0000678	Dental crowding	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0000689	Dental malocclusion	-	OMIM:614669
5332	PLCB4	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0000670	Carious teeth	-	OMIM:131300
5332	PLCB4	HP:0011304	Broad thumb	2/7	OMIM:615777
5332	PLCB4	HP:0000668	Hypodontia	-	OMIM:615777
5332	PLCB4	HP:0000664	Synophrys	-	OMIM:615777
5332	PLCB4	HP:0000664	Synophrys	1/1	OMIM:620458
5332	PLCB4	HP:0004396	Poor appetite	-	OMIM:131300
5332	PLCB4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5332	PLCB4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5332	PLCB4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5332	PLCB4	HP:0003026	Short long bone	7/7	OMIM:615777
5332	PLCB4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5332	PLCB4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5332	PLCB4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5332	PLCB4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5332	PLCB4	HP:0000750	Delayed speech and language development	-	OMIM:615777
5332	PLCB4	HP:0000729	Autistic behavior	1/1	OMIM:620458
5332	PLCB4	HP:0011461	Fetal onset	7/7	OMIM:615777
5332	PLCB4	HP:0000774	Narrow chest	2/7	OMIM:615777
5332	PLCB4	HP:0004453	Overfolding of the superior helices	-	OMIM:614669
5332	PLCB4	HP:0004451	Postauricular skin tag	2/2	OMIM:620458
5332	PLCB4	HP:0000926	Platyspondyly	1/7	OMIM:615777
5332	PLCB4	HP:0003180	Flat acetabular roof	-	OMIM:615777
5332	PLCB4	HP:0004482	Relative macrocephaly	-	OMIM:615777
5332	PLCB4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5332	PLCB4	HP:0030713	Vein of Galen aneurysmal malformation	HP:0040284	ORPHA:137888
5332	PLCB4	HP:0000823	Delayed puberty	-	OMIM:131300
5332	PLCB4	HP:0000894	Short clavicles	-	OMIM:615777
5332	PLCB4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5332	PLCB4	HP:0100277	Periauricular skin pits	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5332	PLCB4	HP:0008070	Sparse hair	1/1	OMIM:620458
5332	PLCB4	HP:0000286	Epicanthus	1/7	OMIM:615777
5332	PLCB4	HP:0000280	Coarse facial features	2/7	OMIM:615777
5332	PLCB4	HP:0000293	Full cheeks	3/3	OMIM:620458
5332	PLCB4	HP:0000293	Full cheeks	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0000256	Macrocephaly	HP:0040283	ORPHA:137888
5332	PLCB4	HP:0000256	Macrocephaly	3/12	OMIM:614669
5332	PLCB4	HP:0002827	Hip dislocation	3/7	OMIM:615777
5332	PLCB4	HP:0000252	Microcephaly	-	OMIM:615777
5332	PLCB4	HP:0002857	Genu valgum	-	OMIM:131300
5332	PLCB4	HP:0002870	Obstructive sleep apnea	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0030022	Question mark ear	5/5	OMIM:620458
5332	PLCB4	HP:0030022	Question mark ear	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0001539	Omphalocele	1/3	OMIM:620458
5332	PLCB4	HP:0001533	Slender build	-	OMIM:131300
5332	PLCB4	HP:0001508	Failure to thrive	1/1	OMIM:620458
5332	PLCB4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5332	PLCB4	HP:0007807	Optic nerve compression	-	OMIM:131300
5332	PLCB4	HP:0000384	Preauricular skin tag	0/2	OMIM:620458
5332	PLCB4	HP:0000384	Preauricular skin tag	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0012368	Flat face	7/7	OMIM:615777
5332	PLCB4	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5332	PLCB4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:137888
5332	PLCB4	HP:0000365	Hearing impairment	10/67	OMIM:131300
5332	PLCB4	HP:0000365	Hearing impairment	4/19	OMIM:614669
5332	PLCB4	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0000358	Posteriorly rotated ears	2/20	OMIM:614669
5332	PLCB4	HP:0000369	Low-set ears	2/20	OMIM:614669
5332	PLCB4	HP:0000341	Narrow forehead	1/1	OMIM:620458
5332	PLCB4	HP:0000343	Long philtrum	1/7	OMIM:615777
5332	PLCB4	HP:0011001	Increased bone mineral density	-	OMIM:131300
5332	PLCB4	HP:0000347	Micrognathia	4/4	OMIM:620458
5332	PLCB4	HP:0000347	Micrognathia	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0000347	Micrognathia	22/31	OMIM:614669
5332	PLCB4	HP:0000311	Round face	-	OMIM:614669
5332	PLCB4	HP:0000311	Round face	2/7	OMIM:615777
5332	PLCB4	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:137888
5332	PLCB4	HP:0000324	Facial asymmetry	0/1	OMIM:620458
5332	PLCB4	HP:0002970	Genu varum	-	OMIM:615777
5332	PLCB4	HP:0000303	Mandibular prognathia	-	OMIM:131300
5332	PLCB4	HP:0012478	Temporomandibular joint ankylosis	1/20	OMIM:614669
5332	PLCB4	HP:0000402	Stenosis of the external auditory canal	3/10	OMIM:614669
5332	PLCB4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5332	PLCB4	HP:0012450	Chronic constipation	1/1	OMIM:620458
5332	PLCB4	HP:0000470	Short neck	1/7	OMIM:615777
5332	PLCB4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5332	PLCB4	HP:0001763	Pes planus	1/7	OMIM:615777
5332	PLCB4	HP:0001840	Metatarsus adductus	-	OMIM:615777
5332	PLCB4	HP:0000520	Proptosis	2/4	OMIM:131300
5332	PLCB4	HP:0000520	Proptosis	7/7	OMIM:615777
5332	PLCB4	HP:0000506	Telecanthus	1/1	OMIM:620458
5332	PLCB4	HP:0000508	Ptosis	HP:0040283	ORPHA:137888
5332	PLCB4	HP:0000508	Ptosis	3/11	OMIM:614669
5332	PLCB4	HP:0011261	Darwin tubercle of helix	1/1	OMIM:620458
5332	PLCB4	HP:0000592	Blue sclerae	2/7	OMIM:615777
5332	PLCB4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5332	PLCB4	HP:0012514	Lower limb pain	4/4	OMIM:131300
5333	PLCD1	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:2387
5333	PLCD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:151600
5333	PLCD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:151600
5333	PLCD1	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:2387
5333	PLCD1	HP:0003577	Congenital onset	25/25	OMIM:151600
5333	PLCD1	HP:0009720	Adenoma sebaceum	HP:0040281	ORPHA:2387
5333	PLCD1	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:2387
5333	PLCD1	HP:0000613	Photophobia	HP:0040282	ORPHA:2387
5333	PLCD1	HP:0000787	Nephrolithiasis	HP:0040281	ORPHA:2387
5333	PLCD1	HP:0001595	Abnormal hair morphology	0/25	OMIM:151600
5333	PLCD1	HP:0001598	Concave nail	-	OMIM:151600
5333	PLCD1	HP:0000499	Abnormal eyelash morphology	HP:0040282	ORPHA:2387
5333	PLCD1	HP:0000498	Blepharitis	HP:0040282	ORPHA:2387
5333	PLCD1	HP:0011121	Abnormal skin morphology	0/25	OMIM:151600
5333	PLCD1	HP:0001820	Leukonychia	25/25	OMIM:151600
5335	PLCG1	HP:0025289	Cervical lymphadenopathy	1/1	OMIM:620514
5335	PLCG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620514
5335	PLCG1	HP:0032436	Abnormal circulating C-reactive protein concentration	1/1	OMIM:620514
5335	PLCG1	HP:0033178	Increased circulating interleukin 8 concentration	1/1	OMIM:620514
5335	PLCG1	HP:0003493	Antinuclear antibody positivity	1/1	OMIM:620514
5335	PLCG1	HP:0003565	Elevated erythrocyte sedimentation rate	1/1	OMIM:620514
5335	PLCG1	HP:0034751	Inguinal lymphadenopathy	1/1	OMIM:620514
5335	PLCG1	HP:0001903	Anemia	1/1	OMIM:620514
5335	PLCG1	HP:0011463	Childhood onset	1/1	OMIM:620514
5335	PLCG1	HP:0030783	Increased circulating interleukin 6 concentration	1/1	OMIM:620514
5335	PLCG1	HP:0045042	Decreased circulating complement C4 concentration	1/1	OMIM:620514
5335	PLCG1	HP:0000967	Petechiae	1/1	OMIM:620514
5335	PLCG1	HP:0000225	Gingival bleeding	1/1	OMIM:620514
5335	PLCG1	HP:0031364	Ecchymosis	1/1	OMIM:620514
5335	PLCG1	HP:0000421	Epistaxis	1/1	OMIM:620514
5335	PLCG1	HP:0005421	Decreased circulating complement C3 concentration	1/1	OMIM:620514
5336	PLCG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614468
5336	PLCG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614878
5336	PLCG2	HP:0410135	Cold urticaria	27/27	OMIM:614468
5336	PLCG2	HP:0002720	Decreased circulating IgA concentration	2/2	OMIM:614878
5336	PLCG2	HP:0002099	Asthma	9/21	OMIM:614468
5336	PLCG2	HP:0003493	Antinuclear antibody positivity	13/21	OMIM:614468
5336	PLCG2	HP:0003593	Infantile onset	2/2	OMIM:614878
5336	PLCG2	HP:0003593	Infantile onset	-	OMIM:614468
5336	PLCG2	HP:0011971	Dermatographic urticaria	1/5	OMIM:614468
5336	PLCG2	HP:0011950	Bronchiolitis	2/2	OMIM:614878
5336	PLCG2	HP:0001045	Vitiligo	4/21	OMIM:614468
5336	PLCG2	HP:0200020	Corneal erosion	1/2	OMIM:614878
5336	PLCG2	HP:0100658	Cellulitis	2/2	OMIM:614878
5336	PLCG2	HP:0100665	Angioedema	6/20	OMIM:614468
5336	PLCG2	HP:0010783	Erythema	20/20	OMIM:614468
5336	PLCG2	HP:0010783	Erythema	2/2	OMIM:614878
5336	PLCG2	HP:0031972	Presyncope	12/20	OMIM:614468
5336	PLCG2	HP:0004387	Enterocolitis	2/2	OMIM:614878
5336	PLCG2	HP:0011463	Childhood onset	-	OMIM:614468
5336	PLCG2	HP:0003193	Allergic rhinitis	9/21	OMIM:614468
5336	PLCG2	HP:0000872	Hashimoto thyroiditis	2/21	OMIM:614468
5336	PLCG2	HP:0100279	Ulcerative colitis	1/2	OMIM:614878
5336	PLCG2	HP:0000989	Pruritus	20/20	OMIM:614468
5336	PLCG2	HP:0002829	Arthralgia	2/2	OMIM:614878
5336	PLCG2	HP:0012203	Onychomycosis	2/21	OMIM:614468
5336	PLCG2	HP:0002850	Decreased circulating total IgM	2/2	OMIM:614878
5336	PLCG2	HP:0012393	Allergy	15/27	OMIM:614468
5336	PLCG2	HP:0006515	Interstitial pneumonitis	2/2	OMIM:614878
5336	PLCG2	HP:0002958	Immune dysregulation	-	OMIM:614878
5336	PLCG2	HP:0000403	Recurrent otitis media	6/21	OMIM:614468
5336	PLCG2	HP:0005425	Recurrent sinopulmonary infections	2/2	OMIM:614878
5336	PLCG2	HP:0005425	Recurrent sinopulmonary infections	12/27	OMIM:614468
5336	PLCG2	HP:0000518	Cataract	1/2	OMIM:614878
5336	PLCG2	HP:0030388	Decreased class-switched memory B cell proportion	2/2	OMIM:614878
5337	PLD1	HP:0008722	Urethral diverticulum	-	OMIM:212093
5337	PLD1	HP:0031014	Arteria lusoria	-	OMIM:212093
5337	PLD1	HP:0000072	Hydroureter	-	OMIM:212093
5337	PLD1	HP:0000023	Inguinal hernia	-	OMIM:212093
5337	PLD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:212093
5337	PLD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
5337	PLD1	HP:0031295	Left atrial enlargement	2/6	OMIM:212093
5337	PLD1	HP:0000126	Hydronephrosis	-	OMIM:212093
5337	PLD1	HP:0010446	Tricuspid stenosis	1/6	OMIM:212093
5337	PLD1	HP:0004762	Hypoplasia of right ventricle	1/6	OMIM:212093
5337	PLD1	HP:0003577	Congenital onset	6/6	OMIM:212093
5337	PLD1	HP:0004935	Pulmonary artery atresia	2/6	OMIM:212093
5337	PLD1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
5337	PLD1	HP:0004467	Preauricular pit	-	OMIM:187500
5337	PLD1	HP:0011591	Left aortic arch with cervical origin of the right subclavian artery	1/6	OMIM:212093
5337	PLD1	HP:0011555	Double inlet left ventricle	1/6	OMIM:212093
5337	PLD1	HP:0011662	Tricuspid atresia	2/6	OMIM:212093
5337	PLD1	HP:0011623	Muscular ventricular septal defect	1/6	OMIM:212093
5337	PLD1	HP:0034348	Subpulmonary stenosis	2/6	OMIM:212093
5337	PLD1	HP:0034350	Valvular pulmonary stenosis	1/6	OMIM:212093
5337	PLD1	HP:0000969	Edema	-	OMIM:212093
5337	PLD1	HP:0000961	Cyanosis	2/6	OMIM:212093
5337	PLD1	HP:0005180	Tricuspid regurgitation	-	OMIM:212093
5337	PLD1	HP:0000337	Broad forehead	-	OMIM:187500
5337	PLD1	HP:0001642	Pulmonic stenosis	1/6	OMIM:212093
5337	PLD1	HP:0001653	Mitral regurgitation	2/6	OMIM:212093
5337	PLD1	HP:0001655	Patent foramen ovale	-	OMIM:212093
5337	PLD1	HP:0001629	Ventricular septal defect	2/6	OMIM:212093
5337	PLD1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
5337	PLD1	HP:0001631	Atrial septal defect	1/6	OMIM:212093
5337	PLD1	HP:0001634	Mitral valve prolapse	-	OMIM:212093
5337	PLD1	HP:0001704	Tricuspid valve prolapse	-	OMIM:212093
5337	PLD1	HP:0001718	Mitral stenosis	-	OMIM:212093
5337	PLD1	HP:0001789	Hydrops fetalis	-	OMIM:212093
5337	PLD1	HP:0000520	Proptosis	-	OMIM:187500
5339	PLEC	HP:0008551	Microtia	HP:0040283	ORPHA:158684
5339	PLEC	HP:0008551	Microtia	3/3	OMIM:612138
5339	PLEC	HP:0003749	Pelvic girdle muscle weakness	HP:0040282	ORPHA:254361
5339	PLEC	HP:0003701	Proximal muscle weakness	-	OMIM:613723
5339	PLEC	HP:0001270	Motor delay	-	OMIM:613723
5339	PLEC	HP:0001270	Motor delay	HP:0040282	ORPHA:254361
5339	PLEC	HP:0001284	Areflexia	HP:0040283	ORPHA:254361
5339	PLEC	HP:0001263	Global developmental delay	HP:0040283	ORPHA:254361
5339	PLEC	HP:0007446	Palmoplantar blistering	HP:0040282	ORPHA:79401
5339	PLEC	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:1114
5339	PLEC	HP:0031045	Acral blistering	HP:0040282	ORPHA:79401
5339	PLEC	HP:0007383	Congenital localized absence of skin	HP:0040281	ORPHA:1114
5339	PLEC	HP:0007385	Aplasia cutis congenita of scalp	HP:0040283	ORPHA:158684
5339	PLEC	HP:0002505	Loss of ambulation	HP:0040282	ORPHA:254361
5339	PLEC	HP:0003811	Neonatal death	2/2	OMIM:612138
5339	PLEC	HP:0000096	Glomerular sclerosis	HP:0040283	ORPHA:158684
5339	PLEC	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:158684
5339	PLEC	HP:0000075	Renal duplication	HP:0040283	ORPHA:158684
5339	PLEC	HP:0000070	Ureterocele	HP:0040283	ORPHA:158684
5339	PLEC	HP:0001371	Flexion contracture	HP:0040283	ORPHA:158684
5339	PLEC	HP:0001371	Flexion contracture	-	OMIM:612138
5339	PLEC	HP:0001371	Flexion contracture	-	OMIM:613723
5339	PLEC	HP:0033802	Intra-epidermal blistering	-	OMIM:612138
5339	PLEC	HP:0033802	Intra-epidermal blistering	4/4	OMIM:226670
5339	PLEC	HP:0001362	Calvarial skull defect	HP:0040281	ORPHA:1114
5339	PLEC	HP:0007556	Plantar hyperkeratosis	2/2	OMIM:616487
5339	PLEC	HP:0000007	Autosomal recessive inheritance	-	OMIM:226670
5339	PLEC	HP:0000007	Autosomal recessive inheritance	-	OMIM:612138
5339	PLEC	HP:0000007	Autosomal recessive inheritance	-	OMIM:616487
5339	PLEC	HP:0000007	Autosomal recessive inheritance	-	OMIM:226730
5339	PLEC	HP:0000007	Autosomal recessive inheritance	-	OMIM:613723
5339	PLEC	HP:0000006	Autosomal dominant inheritance	-	OMIM:131950
5339	PLEC	HP:0002643	Neonatal respiratory distress	-	OMIM:226670
5339	PLEC	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:79401
5339	PLEC	HP:0001488	Bilateral ptosis	HP:0040283	ORPHA:254361
5339	PLEC	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:254361
5339	PLEC	HP:0008981	Calf muscle hypertrophy	HP:0040283	ORPHA:254361
5339	PLEC	HP:0006297	Enamel hypoplasia	-	OMIM:226730
5339	PLEC	HP:0006297	Enamel hypoplasia	-	OMIM:226670
5339	PLEC	HP:0007585	Skin fragility with non-scarring blistering	-	OMIM:131950
5339	PLEC	HP:0007585	Skin fragility with non-scarring blistering	HP:0040282	ORPHA:158684
5339	PLEC	HP:0007589	Aplasia cutis congenita on trunk or limbs	1/1	OMIM:226730
5339	PLEC	HP:0007589	Aplasia cutis congenita on trunk or limbs	HP:0040283	ORPHA:158684
5339	PLEC	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:158684
5339	PLEC	HP:0000110	Renal dysplasia	HP:0040283	ORPHA:158684
5339	PLEC	HP:0002032	Esophageal atresia	-	OMIM:226730
5339	PLEC	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:254361
5339	PLEC	HP:0002015	Dysphagia	HP:0040283	ORPHA:254361
5339	PLEC	HP:0002012	Abnormality of the abdominal organs	-	ORPHA:79401
5339	PLEC	HP:0002013	Vomiting	HP:0040282	ORPHA:158684
5339	PLEC	HP:0003341	Lamina lucida cleavage	2/2	OMIM:226730
5339	PLEC	HP:0003341	Lamina lucida cleavage	HP:0040282	ORPHA:158684
5339	PLEC	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:254361
5339	PLEC	HP:0003324	Generalized muscle weakness	-	OMIM:613723
5339	PLEC	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	HP:0040284	ORPHA:254361
5339	PLEC	HP:0002086	Abnormality of the respiratory system	HP:0040284	ORPHA:254361
5339	PLEC	HP:0003391	Gowers sign	HP:0040282	ORPHA:254361
5339	PLEC	HP:0003391	Gowers sign	-	OMIM:613723
5339	PLEC	HP:0002041	Intractable diarrhea	-	OMIM:226730
5339	PLEC	HP:0011712	Complete right bundle branch block	HP:0040284	ORPHA:254361
5339	PLEC	HP:0040266	Proximal upper limb muscle hypertrophy	HP:0040283	ORPHA:254361
5339	PLEC	HP:0040287	Axial muscle atrophy	HP:0040282	ORPHA:254361
5339	PLEC	HP:0010477	Aplasia of the bladder	HP:0040283	ORPHA:158684
5339	PLEC	HP:0003473	Fatigable weakness	HP:0040283	ORPHA:257
5339	PLEC	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:254361
5339	PLEC	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:254361
5339	PLEC	HP:0002164	Nail dysplasia	-	OMIM:226730
5339	PLEC	HP:0002164	Nail dysplasia	-	OMIM:226670
5339	PLEC	HP:0010547	Muscle flaccidity	HP:0040281	ORPHA:257
5339	PLEC	HP:0010529	Echolalia	HP:0040281	ORPHA:257
5339	PLEC	HP:0011859	Punctate keratitis	-	OMIM:226670
5339	PLEC	HP:0003577	Congenital onset	6/6	OMIM:226670
5339	PLEC	HP:0003577	Congenital onset	2/2	OMIM:226730
5339	PLEC	HP:0003555	Muscle fiber splitting	1/1	OMIM:226670
5339	PLEC	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:254361
5339	PLEC	HP:0003551	Difficulty climbing stairs	-	OMIM:613723
5339	PLEC	HP:0003560	Muscular dystrophy	HP:0040283	ORPHA:158684
5339	PLEC	HP:0003560	Muscular dystrophy	-	OMIM:226670
5339	PLEC	HP:0003560	Muscular dystrophy	-	OMIM:613723
5339	PLEC	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:226670
5339	PLEC	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:254361
5339	PLEC	HP:0008401	Onychogryphosis of toenails	-	OMIM:131950
5339	PLEC	HP:0008404	Nail dystrophy	-	OMIM:226730
5339	PLEC	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:158684
5339	PLEC	HP:0008404	Nail dystrophy	2/2	OMIM:616487
5339	PLEC	HP:0008404	Nail dystrophy	6/6	OMIM:226670
5339	PLEC	HP:0100750	Atelectasis	HP:0040284	ORPHA:254361
5339	PLEC	HP:0200097	Oral mucosal blisters	1/1	OMIM:226730
5339	PLEC	HP:0200097	Oral mucosal blisters	HP:0040282	ORPHA:158684
5339	PLEC	HP:0010628	Facial palsy	HP:0040283	ORPHA:1114
5339	PLEC	HP:0430025	Bilateral facial palsy	HP:0040283	ORPHA:254361
5339	PLEC	HP:0011950	Bronchiolitis	HP:0040284	ORPHA:254361
5339	PLEC	HP:0020073	Hypopigmented macule	HP:0040282	ORPHA:79401
5339	PLEC	HP:0001056	Milia	-	OMIM:226730
5339	PLEC	HP:0001056	Milia	-	OMIM:226670
5339	PLEC	HP:0001056	Milia	HP:0040283	ORPHA:158684
5339	PLEC	HP:0001057	Aplasia cutis congenita	HP:0040282	ORPHA:158684
5339	PLEC	HP:0001057	Aplasia cutis congenita	HP:0040281	ORPHA:1114
5339	PLEC	HP:0001057	Aplasia cutis congenita	3/3	OMIM:612138
5339	PLEC	HP:0002381	Aphasia	HP:0040281	ORPHA:257
5339	PLEC	HP:0001060	Axillary pterygium	-	OMIM:226730
5339	PLEC	HP:0001034	Hypermelanotic macule	HP:0040282	ORPHA:79401
5339	PLEC	HP:0001030	Fragile skin	-	OMIM:226730
5339	PLEC	HP:0001030	Fragile skin	HP:0040282	ORPHA:158684
5339	PLEC	HP:0001030	Fragile skin	-	OMIM:612138
5339	PLEC	HP:0001030	Fragile skin	HP:0040282	ORPHA:79401
5339	PLEC	HP:0002359	Frequent falls	HP:0040282	ORPHA:254361
5339	PLEC	HP:0003678	Rapidly progressive	-	OMIM:613723
5339	PLEC	HP:0200037	Skin vesicle	HP:0040281	ORPHA:257
5339	PLEC	HP:0200034	Papule	HP:0040282	ORPHA:257
5339	PLEC	HP:0001075	Atrophic scars	-	OMIM:226730
5339	PLEC	HP:0001075	Atrophic scars	HP:0040283	ORPHA:158684
5339	PLEC	HP:0200042	Skin ulcer	HP:0040282	ORPHA:1114
5339	PLEC	HP:0200041	Skin erosion	HP:0040282	ORPHA:158684
5339	PLEC	HP:0200041	Skin erosion	HP:0040282	ORPHA:79401
5339	PLEC	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	-	OMIM:131950
5339	PLEC	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3/3	OMIM:226730
5339	PLEC	HP:0010783	Erythema	HP:0040283	ORPHA:1114
5339	PLEC	HP:0002300	Mutism	HP:0040281	ORPHA:257
5339	PLEC	HP:0009073	Progressive proximal muscle weakness	HP:0040281	ORPHA:254361
5339	PLEC	HP:0000602	Ophthalmoplegia	HP:0040281	ORPHA:257
5339	PLEC	HP:0001903	Anemia	-	OMIM:226670
5339	PLEC	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:254361
5339	PLEC	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:257
5339	PLEC	HP:0009025	Increased connective tissue	-	OMIM:226670
5339	PLEC	HP:0000656	Ectropion	-	OMIM:226730
5339	PLEC	HP:0000670	Carious teeth	-	OMIM:226670
5339	PLEC	HP:0004322	Short stature	-	OMIM:226670
5339	PLEC	HP:0004334	Dermal atrophy	HP:0040282	ORPHA:257
5339	PLEC	HP:0004399	Congenital pyloric atresia	3/3	OMIM:612138
5339	PLEC	HP:0004399	Congenital pyloric atresia	1/1	OMIM:226730
5339	PLEC	HP:0004399	Congenital pyloric atresia	HP:0040282	ORPHA:158684
5339	PLEC	HP:0034193	Stratum basale cleavage	2/2	OMIM:616487
5339	PLEC	HP:0003010	Prolonged bleeding time	HP:0040283	ORPHA:1114
5339	PLEC	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:1114
5339	PLEC	HP:0011463	Childhood onset	-	OMIM:613723
5339	PLEC	HP:0011463	Childhood onset	2/2	OMIM:616487
5339	PLEC	HP:0011461	Fetal onset	3/3	OMIM:612138
5339	PLEC	HP:0000795	Abnormality of the urethra	HP:0040283	ORPHA:158684
5339	PLEC	HP:0011432	Elevated maternal circulating alpha-fetoprotein concentration	-	OMIM:226730
5339	PLEC	HP:0003198	Myopathy	HP:0040281	ORPHA:257
5339	PLEC	HP:0004471	Aplasia cutis congenita over the scalp vertex	HP:0040281	ORPHA:1114
5339	PLEC	HP:5200061	Tactile hypersensitivity	HP:0040283	ORPHA:1114
5339	PLEC	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:254361
5339	PLEC	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:613723
5339	PLEC	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:158684
5339	PLEC	HP:0004552	Scarring alopecia of scalp	-	OMIM:226670
5339	PLEC	HP:0004552	Scarring alopecia of scalp	HP:0040283	ORPHA:158684
5339	PLEC	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:254361
5339	PLEC	HP:0003202	Skeletal muscle atrophy	-	OMIM:613723
5339	PLEC	HP:0034378	Urethrovesical occlusion	1/1	OMIM:226730
5339	PLEC	HP:0003270	Abdominal distention	HP:0040282	ORPHA:158684
5339	PLEC	HP:0010301	Spinal dysraphism	HP:0040281	ORPHA:1114
5339	PLEC	HP:0000978	Bruising susceptibility	-	OMIM:131950
5339	PLEC	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:226670
5339	PLEC	HP:0000989	Pruritus	2/2	OMIM:616487
5339	PLEC	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:79401
5339	PLEC	HP:0000951	Abnormality of the skin	-	ORPHA:254361
5339	PLEC	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:257
5339	PLEC	HP:0008066	Abnormal blistering of the skin	1/1	OMIM:226730
5339	PLEC	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:158684
5339	PLEC	HP:0008066	Abnormal blistering of the skin	6/6	OMIM:612138
5339	PLEC	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:79401
5339	PLEC	HP:0008066	Abnormal blistering of the skin	2/2	OMIM:616487
5339	PLEC	HP:0008066	Abnormal blistering of the skin	6/6	OMIM:226670
5339	PLEC	HP:0100298	Motheaten muscle fibers	1/1	OMIM:226670
5339	PLEC	HP:0001596	Alopecia	0/2	OMIM:616487
5339	PLEC	HP:0001596	Alopecia	HP:0040281	ORPHA:257
5339	PLEC	HP:0012246	Oculomotor nerve palsy	HP:0040281	ORPHA:257
5339	PLEC	HP:0000256	Macrocephaly	3/3	OMIM:612138
5339	PLEC	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:226730
5339	PLEC	HP:0012227	Urethral stricture	-	OMIM:226670
5339	PLEC	HP:0002875	Exertional dyspnea	HP:0040284	ORPHA:254361
5339	PLEC	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:158684
5339	PLEC	HP:0001561	Polyhydramnios	-	OMIM:226730
5339	PLEC	HP:0001561	Polyhydramnios	5/6	OMIM:612138
5339	PLEC	HP:0001522	Death in infancy	2/2	OMIM:226730
5339	PLEC	HP:0012378	Fatigue	HP:0040283	ORPHA:257
5339	PLEC	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	-	ORPHA:254361
5339	PLEC	HP:0002938	Lumbar hyperlordosis	-	OMIM:613723
5339	PLEC	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:254361
5339	PLEC	HP:0001627	Abnormal heart morphology	-	ORPHA:79401
5339	PLEC	HP:0001626	Abnormality of the cardiovascular system	HP:0040284	ORPHA:254361
5339	PLEC	HP:0000478	Abnormality of the eye	-	ORPHA:79401
5339	PLEC	HP:0000491	Keratitis	-	OMIM:226670
5339	PLEC	HP:0000490	Deeply set eye	3/3	OMIM:612138
5339	PLEC	HP:0000463	Anteverted nares	3/3	OMIM:612138
5339	PLEC	HP:0001798	Anonychia	-	OMIM:226730
5339	PLEC	HP:0001771	Achilles tendon contracture	HP:0040283	ORPHA:254361
5339	PLEC	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:1114
5339	PLEC	HP:0000430	Underdeveloped nasal alae	3/3	OMIM:612138
5339	PLEC	HP:0000508	Ptosis	HP:0040282	ORPHA:257
5339	PLEC	HP:0001804	Hypoplastic fingernail	HP:0040281	ORPHA:257
5339	PLEC	HP:0001812	Hyperconvex fingernails	HP:0040281	ORPHA:257
5339	PLEC	HP:0000597	Ophthalmoparesis	HP:0040281	ORPHA:257
5340	PLG	HP:0001290	Generalized hypotonia	1/2	OMIM:217090
5340	PLG	HP:0002588	Duodenal ulcer	-	OMIM:217090
5340	PLG	HP:0002588	Duodenal ulcer	HP:0040283	ORPHA:722
5340	PLG	HP:0012027	Laryngeal edema	-	OMIM:619360
5340	PLG	HP:0000007	Autosomal recessive inheritance	-	OMIM:217090
5340	PLG	HP:0000006	Autosomal dominant inheritance	-	OMIM:619360
5340	PLG	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:722
5340	PLG	HP:0001305	Dandy-Walker malformation	1/2	OMIM:217090
5340	PLG	HP:0001321	Cerebellar hypoplasia	1/2	OMIM:217090
5340	PLG	HP:0000137	Abnormality of the ovary	HP:0040283	ORPHA:722
5340	PLG	HP:0000123	Nephritis	HP:0040283	OMIM:217090
5340	PLG	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:217090
5340	PLG	HP:0031244	Swollen lip	-	OMIM:619360
5340	PLG	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:722
5340	PLG	HP:0002119	Ventriculomegaly	1/2	OMIM:217090
5340	PLG	HP:0003593	Infantile onset	11/12	OMIM:217090
5340	PLG	HP:0100665	Angioedema	-	OMIM:619360
5340	PLG	HP:0001977	Abnormal thrombosis	0/2	OMIM:217090
5340	PLG	HP:0000618	Blindness	-	OMIM:217090
5340	PLG	HP:0034197	Third trimester onset	1/2	OMIM:217090
5340	PLG	HP:0000704	Periodontitis	HP:0040283	ORPHA:722
5340	PLG	HP:0000704	Periodontitis	-	OMIM:217090
5340	PLG	HP:0011462	Young adult onset	-	OMIM:619360
5340	PLG	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:722
5340	PLG	HP:0000787	Nephrolithiasis	-	OMIM:217090
5340	PLG	HP:0040228	Decreased level of plasminogen	2/2	OMIM:217090
5340	PLG	HP:0040228	Decreased level of plasminogen	HP:0040281	ORPHA:722
5340	PLG	HP:0000951	Abnormality of the skin	-	OMIM:217090
5340	PLG	HP:0000951	Abnormality of the skin	HP:0040283	ORPHA:722
5340	PLG	HP:0000282	Facial edema	-	OMIM:619360
5340	PLG	HP:0000256	Macrocephaly	2/2	OMIM:217090
5340	PLG	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:722
5340	PLG	HP:0000238	Hydrocephalus	2/2	OMIM:217090
5340	PLG	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:722
5340	PLG	HP:0000212	Gingival overgrowth	1/2	OMIM:217090
5340	PLG	HP:0000230	Gingivitis	HP:0040282	ORPHA:722
5340	PLG	HP:0000230	Gingivitis	-	OMIM:217090
5340	PLG	HP:0011027	Abnormal fallopian tube morphology	HP:0040283	ORPHA:722
5340	PLG	HP:0000370	Abnormality of the middle ear	HP:0040283	ORPHA:722
5340	PLG	HP:0030160	Cervicitis	HP:0040283	ORPHA:722
5340	PLG	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:722
5340	PLG	HP:0000509	Conjunctivitis	2/2	OMIM:217090
5340	PLG	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:722
5345	SERPINF2	HP:0000007	Autosomal recessive inheritance	-	OMIM:262850
5345	SERPINF2	HP:0002653	Bone pain	HP:0040283	ORPHA:79
5345	SERPINF2	HP:0012151	Hemothorax	HP:0040282	ORPHA:79
5345	SERPINF2	HP:0012151	Hemothorax	-	OMIM:262850
5345	SERPINF2	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:79
5345	SERPINF2	HP:0011884	Abnormal umbilical stump bleeding	HP:0040283	ORPHA:79
5345	SERPINF2	HP:0001934	Persistent bleeding after trauma	HP:0040281	ORPHA:79
5345	SERPINF2	HP:0001934	Persistent bleeding after trauma	-	OMIM:262850
5345	SERPINF2	HP:0000790	Hematuria	HP:0040282	ORPHA:79
5345	SERPINF2	HP:0040247	Reduced euglobulin clot lysis time	HP:0040282	ORPHA:79
5345	SERPINF2	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:79
5345	SERPINF2	HP:0000978	Bruising susceptibility	-	OMIM:262850
5345	SERPINF2	HP:0012233	Intramuscular hematoma	HP:0040282	ORPHA:79
5345	SERPINF2	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:79
5345	SERPINF2	HP:0005261	Joint hemorrhage	-	OMIM:262850
5345	SERPINF2	HP:0005261	Joint hemorrhage	HP:0040281	ORPHA:79
5345	SERPINF2	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:79
5346	PLIN1	HP:0003758	Reduced subcutaneous adipose tissue	HP:0040281	ORPHA:280356
5346	PLIN1	HP:0003712	Skeletal muscle hypertrophy	2/3	OMIM:613877
5346	PLIN1	HP:0001297	Stroke	1/3	OMIM:613877
5346	PLIN1	HP:0001397	Hepatic steatosis	2/3	OMIM:613877
5346	PLIN1	HP:0001397	Hepatic steatosis	HP:0040280	ORPHA:280356
5346	PLIN1	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:280356
5346	PLIN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613877
5346	PLIN1	HP:0000147	Polycystic ovaries	HP:0040282	ORPHA:280356
5346	PLIN1	HP:0008981	Calf muscle hypertrophy	HP:0040281	ORPHA:280356
5346	PLIN1	HP:0100578	Lipoatrophy	3/3	OMIM:613877
5346	PLIN1	HP:0100578	Lipoatrophy	HP:0040280	ORPHA:280356
5346	PLIN1	HP:0002155	Hypertriglyceridemia	3/3	OMIM:613877
5346	PLIN1	HP:0002155	Hypertriglyceridemia	HP:0040280	ORPHA:280356
5346	PLIN1	HP:0003635	Loss of subcutaneous adipose tissue in limbs	HP:0040281	ORPHA:280356
5346	PLIN1	HP:0009017	Loss of gluteal subcutaneous adipose tissue	HP:0040281	ORPHA:280356
5346	PLIN1	HP:0011462	Young adult onset	3/3	OMIM:613877
5346	PLIN1	HP:0009125	Lipodystrophy	3/3	OMIM:613877
5346	PLIN1	HP:0000789	Infertility	HP:0040281	ORPHA:280356
5346	PLIN1	HP:0003117	Abnormal circulating hormone concentration	HP:0040282	ORPHA:280356
5346	PLIN1	HP:0000877	Insulin-resistant diabetes mellitus at puberty	HP:0040280	ORPHA:280356
5346	PLIN1	HP:0000876	Oligomenorrhea	1/3	OMIM:613877
5346	PLIN1	HP:0000876	Oligomenorrhea	HP:0040282	ORPHA:280356
5346	PLIN1	HP:0000855	Insulin resistance	3/3	OMIM:613877
5346	PLIN1	HP:0000831	Insulin-resistant diabetes mellitus	2/3	OMIM:613877
5346	PLIN1	HP:0000842	Hyperinsulinemia	HP:0040280	ORPHA:280356
5346	PLIN1	HP:0000822	Hypertension	HP:0040280	ORPHA:280356
5346	PLIN1	HP:0000822	Hypertension	1/3	OMIM:613877
5346	PLIN1	HP:0000956	Acanthosis nigricans	HP:0040280	ORPHA:280356
5346	PLIN1	HP:0000956	Acanthosis nigricans	3/3	OMIM:613877
5346	PLIN1	HP:0005268	Miscarriage	1/3	OMIM:613877
5350	PLN	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
5350	PLN	HP:0000006	Autosomal dominant inheritance	-	OMIM:609909
5350	PLN	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
5350	PLN	HP:0000006	Autosomal dominant inheritance	-	OMIM:613874
5350	PLN	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
5350	PLN	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
5350	PLN	HP:0004757	Paroxysmal atrial fibrillation	1/1	OMIM:613874
5350	PLN	HP:0003596	Middle age onset	1/1	OMIM:613874
5350	PLN	HP:0100749	Chest pain	-	OMIM:613874
5350	PLN	HP:0004308	Ventricular arrhythmia	-	OMIM:609909
5350	PLN	HP:0011462	Young adult onset	20/20	OMIM:609909
5350	PLN	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
5350	PLN	HP:0003198	Myopathy	HP:0040283	ORPHA:154
5350	PLN	HP:0000969	Edema	HP:0040282	ORPHA:154
5350	PLN	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
5350	PLN	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
5350	PLN	HP:0005110	Atrial fibrillation	-	OMIM:613874
5350	PLN	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
5350	PLN	HP:0012378	Fatigue	HP:0040282	ORPHA:154
5350	PLN	HP:0001664	Torsade de pointes	1/46	OMIM:115000
5350	PLN	HP:0001645	Sudden cardiac death	-	OMIM:115000
5350	PLN	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
5350	PLN	HP:0001644	Dilated cardiomyopathy	20/20	OMIM:609909
5350	PLN	HP:0001663	Ventricular fibrillation	-	OMIM:115000
5350	PLN	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:613874
5350	PLN	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
5350	PLN	HP:0001635	Congestive heart failure	12/20	OMIM:609909
5350	PLN	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
5350	PLN	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
5350	PLN	HP:0006673	Reduced systolic function	-	OMIM:609909
5350	PLN	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
5350	PLN	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
5350	PLN	HP:0001712	Left ventricular hypertrophy	1/1	OMIM:613874
5351	PLOD1	HP:0009901	Crumpled ear	90/119	OMIM:121050
5351	PLOD1	HP:0001181	Adducted thumb	42/90	OMIM:121050
5351	PLOD1	HP:0001166	Arachnodactyly	-	OMIM:225400
5351	PLOD1	HP:0001166	Arachnodactyly	104/124	OMIM:121050
5351	PLOD1	HP:0001166	Arachnodactyly	124/197	OMIM:154700
5351	PLOD1	HP:0001166	Arachnodactyly	34/37	OMIM:182212
5351	PLOD1	HP:0001166	Arachnodactyly	6/15	OMIM:208050
5351	PLOD1	HP:0002495	Impaired vibratory sensation	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0003745	Sporadic	-	OMIM:182212
5351	PLOD1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
5351	PLOD1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5351	PLOD1	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
5351	PLOD1	HP:0001293	Cranial nerve compression	-	OMIM:131300
5351	PLOD1	HP:0001290	Generalized hypotonia	-	OMIM:208050
5351	PLOD1	HP:0001290	Generalized hypotonia	-	OMIM:182212
5351	PLOD1	HP:0001270	Motor delay	-	OMIM:121050
5351	PLOD1	HP:0001252	Hypotonia	HP:0040281	ORPHA:1900
5351	PLOD1	HP:0001252	Hypotonia	1/1	OMIM:225400
5351	PLOD1	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
5351	PLOD1	HP:0001252	Hypotonia	2/7	OMIM:615777
5351	PLOD1	HP:0001252	Hypotonia	26/37	OMIM:182212
5351	PLOD1	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
5351	PLOD1	HP:0001249	Intellectual disability	5/7	OMIM:615777
5351	PLOD1	HP:0001249	Intellectual disability	-	OMIM:182212
5351	PLOD1	HP:0001263	Global developmental delay	-	OMIM:615777
5351	PLOD1	HP:0001263	Global developmental delay	-	OMIM:182212
5351	PLOD1	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
5351	PLOD1	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
5351	PLOD1	HP:0007392	Excessive wrinkled skin	-	OMIM:225400
5351	PLOD1	HP:0002515	Waddling gait	54/102	OMIM:131300
5351	PLOD1	HP:0003835	Shoulder subluxation	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
5351	PLOD1	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
5351	PLOD1	HP:0000098	Tall stature	11/15	OMIM:225400
5351	PLOD1	HP:0000098	Tall stature	-	OMIM:154700
5351	PLOD1	HP:0001374	Congenital hip dislocation	5/15	OMIM:225400
5351	PLOD1	HP:0001377	Limited elbow extension	94/109	OMIM:121050
5351	PLOD1	HP:0001377	Limited elbow extension	29/199	OMIM:154700
5351	PLOD1	HP:0001371	Flexion contracture	-	OMIM:208050
5351	PLOD1	HP:0001371	Flexion contracture	-	OMIM:154700
5351	PLOD1	HP:0001373	Joint dislocation	-	OMIM:225400
5351	PLOD1	HP:0001373	Joint dislocation	HP:0040282	ORPHA:1900
5351	PLOD1	HP:0001382	Joint hypermobility	14/14	OMIM:225400
5351	PLOD1	HP:0001382	Joint hypermobility	1/1	OMIM:130050
5351	PLOD1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:1900
5351	PLOD1	HP:0001382	Joint hypermobility	12/14	OMIM:208050
5351	PLOD1	HP:0001382	Joint hypermobility	11/53	OMIM:154700
5351	PLOD1	HP:0001382	Joint hypermobility	-	OMIM:615777
5351	PLOD1	HP:0001382	Joint hypermobility	31/47	OMIM:182212
5351	PLOD1	HP:0000023	Inguinal hernia	-	OMIM:225400
5351	PLOD1	HP:0000023	Inguinal hernia	11/11	OMIM:130050
5351	PLOD1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0000023	Inguinal hernia	8/15	OMIM:208050
5351	PLOD1	HP:0000023	Inguinal hernia	19/34	OMIM:182212
5351	PLOD1	HP:0000015	Bladder diverticulum	-	OMIM:225400
5351	PLOD1	HP:0001363	Craniosynostosis	18/37	OMIM:182212
5351	PLOD1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5351	PLOD1	HP:0000028	Cryptorchidism	1/1	OMIM:130050
5351	PLOD1	HP:0000028	Cryptorchidism	1/13	OMIM:182212
5351	PLOD1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5351	PLOD1	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
5351	PLOD1	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
5351	PLOD1	HP:0007517	Palmoplantar cutis laxa	-	OMIM:225400
5351	PLOD1	HP:0007502	Follicular hyperkeratosis	1/1	OMIM:225400
5351	PLOD1	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
5351	PLOD1	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
5351	PLOD1	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
5351	PLOD1	HP:0031158	Widened atrophic scar	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0031189	Wrist drop	HP:0040284	ORPHA:1900
5351	PLOD1	HP:0008780	Congenital bilateral hip dislocation	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5351	PLOD1	HP:0001324	Muscle weakness	1/1	OMIM:225400
5351	PLOD1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:1900
5351	PLOD1	HP:0001324	Muscle weakness	40/96	OMIM:131300
5351	PLOD1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5351	PLOD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:225400
5351	PLOD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
5351	PLOD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5351	PLOD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
5351	PLOD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
5351	PLOD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
5351	PLOD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5351	PLOD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
5351	PLOD1	HP:0002650	Scoliosis	16/53	OMIM:154700
5351	PLOD1	HP:0002650	Scoliosis	11/15	OMIM:121050
5351	PLOD1	HP:0002650	Scoliosis	12/14	OMIM:131300
5351	PLOD1	HP:0002650	Scoliosis	3/15	OMIM:208050
5351	PLOD1	HP:0002650	Scoliosis	23/37	OMIM:182212
5351	PLOD1	HP:0002647	Aortic dissection	1/58	OMIM:154700
5351	PLOD1	HP:0002647	Aortic dissection	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0001319	Neonatal hypotonia	HP:0040281	ORPHA:1900
5351	PLOD1	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5351	PLOD1	HP:0002619	Varicose veins	-	OMIM:130050
5351	PLOD1	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
5351	PLOD1	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
5351	PLOD1	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
5351	PLOD1	HP:0002617	Vascular dilatation	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
5351	PLOD1	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
5351	PLOD1	HP:0002624	Abnormal venous morphology	HP:0040284	ORPHA:1900
5351	PLOD1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5351	PLOD1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5351	PLOD1	HP:6000826	Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblasts	10/10	OMIM:225400
5351	PLOD1	HP:0000189	Narrow palate	-	OMIM:182212
5351	PLOD1	HP:0000189	Narrow palate	-	OMIM:154700
5351	PLOD1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5351	PLOD1	HP:0000193	Bifid uvula	0/14	OMIM:208050
5351	PLOD1	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
5351	PLOD1	HP:0012151	Hemothorax	3/4	OMIM:130050
5351	PLOD1	HP:0000175	Cleft palate	2/7	OMIM:615777
5351	PLOD1	HP:0000139	Uterine prolapse	-	OMIM:130050
5351	PLOD1	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
5351	PLOD1	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
5351	PLOD1	HP:0002705	High, narrow palate	HP:0040284	ORPHA:1900
5351	PLOD1	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
5351	PLOD1	HP:0002761	Generalized joint hypermobility	HP:0040282	ORPHA:1900
5351	PLOD1	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
5351	PLOD1	HP:0002751	Kyphoscoliosis	1/1	OMIM:225400
5351	PLOD1	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
5351	PLOD1	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
5351	PLOD1	HP:0002036	Hiatus hernia	-	OMIM:208050
5351	PLOD1	HP:0002007	Frontal bossing	-	OMIM:121050
5351	PLOD1	HP:0002007	Frontal bossing	-	OMIM:182212
5351	PLOD1	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0003302	Spondylolisthesis	-	OMIM:154700
5351	PLOD1	HP:0002097	Emphysema	8/9	OMIM:130050
5351	PLOD1	HP:0002097	Emphysema	HP:0040283	OMIM:154700
5351	PLOD1	HP:0002093	Respiratory insufficiency	-	OMIM:225400
5351	PLOD1	HP:0002091	Restrictive ventilatory defect	HP:0040284	ORPHA:1900
5351	PLOD1	HP:0030961	Microspherophakia	2/53	OMIM:154700
5351	PLOD1	HP:0003388	Easy fatigability	36/76	OMIM:131300
5351	PLOD1	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
5351	PLOD1	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
5351	PLOD1	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
5351	PLOD1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5351	PLOD1	HP:0010499	Patellar subluxation	12/22	OMIM:121050
5351	PLOD1	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
5351	PLOD1	HP:0003477	Peripheral axonal neuropathy	HP:0040284	ORPHA:1900
5351	PLOD1	HP:0002140	Ischemic stroke	-	OMIM:208050
5351	PLOD1	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
5351	PLOD1	HP:0002107	Pneumothorax	2/2	OMIM:130050
5351	PLOD1	HP:0002107	Pneumothorax	6/53	OMIM:154700
5351	PLOD1	HP:0002105	Hemoptysis	6/10	OMIM:130050
5351	PLOD1	HP:0002194	Delayed gross motor development	15/16	OMIM:225400
5351	PLOD1	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
5351	PLOD1	HP:0003593	Infantile onset	5/16	OMIM:208050
5351	PLOD1	HP:0003577	Congenital onset	5/5	OMIM:121050
5351	PLOD1	HP:0003577	Congenital onset	12/26	OMIM:208050
5351	PLOD1	HP:0002239	Gastrointestinal hemorrhage	-	OMIM:225400
5351	PLOD1	HP:0100718	Uterine rupture	-	OMIM:130050
5351	PLOD1	HP:0004872	Incisional hernia	-	OMIM:154700
5351	PLOD1	HP:0100775	Dural ectasia	112/140	OMIM:154700
5351	PLOD1	HP:6000330	Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine	-	OMIM:225400
5351	PLOD1	HP:0100749	Chest pain	1/2	OMIM:130050
5351	PLOD1	HP:0002293	Alopecia of scalp	-	OMIM:130050
5351	PLOD1	HP:0034671	Knee contracture	7/14	OMIM:121050
5351	PLOD1	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
5351	PLOD1	HP:0010648	Dermal translucency	3/3	OMIM:130050
5351	PLOD1	HP:0003510	Severe short stature	7/7	OMIM:615777
5351	PLOD1	HP:0007099	Chiari type I malformation	-	OMIM:182212
5351	PLOD1	HP:0001058	Poor wound healing	3/16	OMIM:225400
5351	PLOD1	HP:0001058	Poor wound healing	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0025019	Arterial rupture	-	OMIM:130050
5351	PLOD1	HP:0025019	Arterial rupture	2/15	OMIM:225400
5351	PLOD1	HP:0025019	Arterial rupture	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0001065	Striae distensae	11/53	OMIM:154700
5351	PLOD1	HP:0001030	Fragile skin	-	OMIM:130050
5351	PLOD1	HP:0001030	Fragile skin	HP:0040281	ORPHA:1900
5351	PLOD1	HP:0003690	Limb muscle weakness	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0001027	Soft, doughy skin	-	OMIM:208050
5351	PLOD1	HP:0002315	Headache	-	OMIM:131300
5351	PLOD1	HP:0004976	Knee dislocation	6/7	OMIM:615777
5351	PLOD1	HP:0100645	Cystocele	-	OMIM:130050
5351	PLOD1	HP:0001073	Cigarette-paper scars	-	OMIM:130050
5351	PLOD1	HP:0001075	Atrophic scars	HP:0040282	ORPHA:1900
5351	PLOD1	HP:0009803	Short phalanx of finger	-	OMIM:615777
5351	PLOD1	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
5351	PLOD1	HP:0001083	Ectopia lentis	119/251	OMIM:154700
5351	PLOD1	HP:0032153	Joint subluxation	HP:0040282	ORPHA:1900
5351	PLOD1	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
5351	PLOD1	HP:0008458	Progressive congenital scoliosis	-	OMIM:225400
5351	PLOD1	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
5351	PLOD1	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
5351	PLOD1	HP:0009763	Limb pain	63/92	OMIM:131300
5351	PLOD1	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
5351	PLOD1	HP:0003623	Neonatal onset	3/16	OMIM:208050
5351	PLOD1	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
5351	PLOD1	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
5351	PLOD1	HP:0003621	Juvenile onset	-	OMIM:131300
5351	PLOD1	HP:0003621	Juvenile onset	2/16	OMIM:208050
5351	PLOD1	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
5351	PLOD1	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
5351	PLOD1	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
5351	PLOD1	HP:0020152	Distal joint hypermobility	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5351	PLOD1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5351	PLOD1	HP:6001056	Out-toeing	-	OMIM:131300
5351	PLOD1	HP:0000651	Diplopia	-	OMIM:131300
5351	PLOD1	HP:0001977	Abnormal thrombosis	-	OMIM:208050
5351	PLOD1	HP:0000618	Blindness	-	OMIM:225400
5351	PLOD1	HP:0001956	Truncal obesity	2/7	OMIM:615777
5351	PLOD1	HP:0001903	Anemia	1/1	OMIM:130050
5351	PLOD1	HP:0001903	Anemia	HP:0040283	OMIM:131300
5351	PLOD1	HP:0034006	Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio	15/15	OMIM:225400
5351	PLOD1	HP:0010049	Short metacarpal	-	OMIM:615777
5351	PLOD1	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
5351	PLOD1	HP:0000678	Dental crowding	-	OMIM:225400
5351	PLOD1	HP:0000678	Dental crowding	8/53	OMIM:154700
5351	PLOD1	HP:0000678	Dental crowding	-	OMIM:615777
5351	PLOD1	HP:0000689	Dental malocclusion	-	OMIM:182212
5351	PLOD1	HP:0000670	Carious teeth	-	OMIM:131300
5351	PLOD1	HP:0011304	Broad thumb	2/7	OMIM:615777
5351	PLOD1	HP:0000668	Hypodontia	-	OMIM:615777
5351	PLOD1	HP:0000664	Synophrys	-	OMIM:615777
5351	PLOD1	HP:0004322	Short stature	-	OMIM:130050
5351	PLOD1	HP:0005659	Thoracic kyphoscoliosis	HP:0040281	ORPHA:1900
5351	PLOD1	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
5351	PLOD1	HP:0003088	Premature osteoarthritis	-	OMIM:154700
5351	PLOD1	HP:0003083	Dislocated radial head	5/37	OMIM:182212
5351	PLOD1	HP:0003066	Limited knee extension	38/45	OMIM:121050
5351	PLOD1	HP:0004396	Poor appetite	-	OMIM:131300
5351	PLOD1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5351	PLOD1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5351	PLOD1	HP:0003042	Elbow dislocation	1/12	OMIM:121050
5351	PLOD1	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
5351	PLOD1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5351	PLOD1	HP:0003026	Short long bone	7/7	OMIM:615777
5351	PLOD1	HP:0031936	Delayed ability to walk	6/6	OMIM:225400
5351	PLOD1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5351	PLOD1	HP:0005684	Distal arthrogryposis	-	OMIM:121050
5351	PLOD1	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
5351	PLOD1	HP:0000767	Pectus excavatum	2/14	OMIM:121050
5351	PLOD1	HP:0000767	Pectus excavatum	1/4	OMIM:130050
5351	PLOD1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0000767	Pectus excavatum	3/15	OMIM:208050
5351	PLOD1	HP:0000767	Pectus excavatum	44/146	OMIM:154700
5351	PLOD1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5351	PLOD1	HP:0000767	Pectus excavatum	-	OMIM:182212
5351	PLOD1	HP:0000768	Pectus carinatum	4/14	OMIM:121050
5351	PLOD1	HP:0000768	Pectus carinatum	2/15	OMIM:208050
5351	PLOD1	HP:0000768	Pectus carinatum	58/146	OMIM:154700
5351	PLOD1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5351	PLOD1	HP:0000768	Pectus carinatum	-	OMIM:182212
5351	PLOD1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5351	PLOD1	HP:0000750	Delayed speech and language development	-	OMIM:615777
5351	PLOD1	HP:0000704	Periodontitis	-	OMIM:130050
5351	PLOD1	HP:0011463	Childhood onset	1/16	OMIM:208050
5351	PLOD1	HP:0011462	Young adult onset	3/16	OMIM:208050
5351	PLOD1	HP:0011461	Fetal onset	7/7	OMIM:615777
5351	PLOD1	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
5351	PLOD1	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
5351	PLOD1	HP:0000774	Narrow chest	2/7	OMIM:615777
5351	PLOD1	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
5351	PLOD1	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
5351	PLOD1	HP:0030799	Scaphocephaly	-	OMIM:121050
5351	PLOD1	HP:0003199	Decreased muscle mass	-	OMIM:154700
5351	PLOD1	HP:0003199	Decreased muscle mass	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0000926	Platyspondyly	1/1	OMIM:225400
5351	PLOD1	HP:0000926	Platyspondyly	1/7	OMIM:615777
5351	PLOD1	HP:0003179	Protrusio acetabuli	1/1	OMIM:225400
5351	PLOD1	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
5351	PLOD1	HP:0003180	Flat acetabular roof	-	OMIM:615777
5351	PLOD1	HP:0004482	Relative macrocephaly	-	OMIM:615777
5351	PLOD1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5351	PLOD1	HP:0000883	Thin ribs	1/1	OMIM:225400
5351	PLOD1	HP:0000883	Thin ribs	-	OMIM:182212
5351	PLOD1	HP:0000822	Hypertension	-	OMIM:208050
5351	PLOD1	HP:0000823	Delayed puberty	-	OMIM:131300
5351	PLOD1	HP:0000895	Lateral clavicle hook	-	OMIM:182212
5351	PLOD1	HP:0000894	Short clavicles	-	OMIM:615777
5351	PLOD1	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
5351	PLOD1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5351	PLOD1	HP:0034391	Elbow contracture	10/14	OMIM:121050
5351	PLOD1	HP:0045052	Abnormality of the brachial nerve plexus	HP:0040284	ORPHA:1900
5351	PLOD1	HP:0003273	Hip contracture	32/121	OMIM:121050
5351	PLOD1	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
5351	PLOD1	HP:0000993	Molluscoid pseudotumors	-	OMIM:225400
5351	PLOD1	HP:0000978	Bruising susceptibility	2/15	OMIM:225400
5351	PLOD1	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
5351	PLOD1	HP:0000978	Bruising susceptibility	HP:0040281	ORPHA:1900
5351	PLOD1	HP:0000978	Bruising susceptibility	-	OMIM:208050
5351	PLOD1	HP:0000977	Soft skin	7/15	OMIM:208050
5351	PLOD1	HP:0000977	Soft skin	16/16	OMIM:225400
5351	PLOD1	HP:0000974	Hyperextensible skin	8/10	OMIM:225400
5351	PLOD1	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
5351	PLOD1	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:1900
5351	PLOD1	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
5351	PLOD1	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
5351	PLOD1	HP:0000973	Cutis laxa	5/14	OMIM:208050
5351	PLOD1	HP:0000987	Atypical scarring of skin	HP:0040281	ORPHA:1900
5351	PLOD1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5351	PLOD1	HP:0000963	Thin skin	-	OMIM:225400
5351	PLOD1	HP:0000963	Thin skin	4/13	OMIM:208050
5351	PLOD1	HP:0000939	Osteoporosis	-	OMIM:225400
5351	PLOD1	HP:0000939	Osteoporosis	HP:0040281	ORPHA:1900
5351	PLOD1	HP:0000938	Osteopenia	-	OMIM:121050
5351	PLOD1	HP:0000938	Osteopenia	1/1	OMIM:225400
5351	PLOD1	HP:0000938	Osteopenia	HP:0040281	ORPHA:1900
5351	PLOD1	HP:0000938	Osteopenia	-	OMIM:182212
5351	PLOD1	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
5351	PLOD1	HP:0100295	Muscle fiber atrophy	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
5351	PLOD1	HP:0000286	Epicanthus	-	OMIM:225400
5351	PLOD1	HP:0000286	Epicanthus	1/7	OMIM:615777
5351	PLOD1	HP:0025586	Hypertropia	8/573	OMIM:154700
5351	PLOD1	HP:0000280	Coarse facial features	2/7	OMIM:615777
5351	PLOD1	HP:0000278	Retrognathia	-	OMIM:154700
5351	PLOD1	HP:0000260	Wide anterior fontanel	-	OMIM:182212
5351	PLOD1	HP:0000275	Narrow face	-	OMIM:154700
5351	PLOD1	HP:0000276	Long face	14/14	OMIM:208050
5351	PLOD1	HP:0000276	Long face	-	OMIM:154700
5351	PLOD1	HP:0000272	Malar flattening	9/14	OMIM:208050
5351	PLOD1	HP:0000272	Malar flattening	31/53	OMIM:154700
5351	PLOD1	HP:0000268	Dolichocephaly	-	OMIM:121050
5351	PLOD1	HP:0000268	Dolichocephaly	36/53	OMIM:154700
5351	PLOD1	HP:0000268	Dolichocephaly	28/37	OMIM:182212
5351	PLOD1	HP:0005136	Mitral annular calcification	-	OMIM:154700
5351	PLOD1	HP:0002816	Genu recurvatum	-	OMIM:182212
5351	PLOD1	HP:0002816	Genu recurvatum	-	OMIM:154700
5351	PLOD1	HP:0002827	Hip dislocation	3/7	OMIM:615777
5351	PLOD1	HP:0002827	Hip dislocation	HP:0040282	ORPHA:1900
5351	PLOD1	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
5351	PLOD1	HP:0000244	Brachyturricephaly	-	OMIM:182212
5351	PLOD1	HP:0000243	Trigonocephaly	HP:0040284	ORPHA:1900
5351	PLOD1	HP:0000238	Hydrocephalus	13/37	OMIM:182212
5351	PLOD1	HP:0000252	Microcephaly	-	OMIM:615777
5351	PLOD1	HP:0000252	Microcephaly	6/37	OMIM:182212
5351	PLOD1	HP:0000248	Brachycephaly	-	OMIM:121050
5351	PLOD1	HP:0025513	Scleral rupture	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0000218	High palate	34/53	OMIM:154700
5351	PLOD1	HP:0000218	High palate	30/102	OMIM:121050
5351	PLOD1	HP:0000218	High palate	5/13	OMIM:208050
5351	PLOD1	HP:0000218	High palate	30/37	OMIM:182212
5351	PLOD1	HP:0000233	Thin vermilion border	-	OMIM:130050
5351	PLOD1	HP:0030009	Cervical insufficiency	-	OMIM:130050
5351	PLOD1	HP:0001558	Decreased fetal movement	-	OMIM:225400
5351	PLOD1	HP:0002857	Genu valgum	-	OMIM:131300
5351	PLOD1	HP:0002857	Genu valgum	4/37	OMIM:182212
5351	PLOD1	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
5351	PLOD1	HP:0001537	Umbilical hernia	-	OMIM:208050
5351	PLOD1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0001537	Umbilical hernia	13/37	OMIM:182212
5351	PLOD1	HP:0001533	Slender build	-	OMIM:131300
5351	PLOD1	HP:0031364	Ecchymosis	-	OMIM:130050
5351	PLOD1	HP:0030043	Hip subluxation	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0001519	Disproportionate tall stature	-	OMIM:225400
5351	PLOD1	HP:0001519	Disproportionate tall stature	-	OMIM:121050
5351	PLOD1	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
5351	PLOD1	HP:0001519	Disproportionate tall stature	HP:0040282	ORPHA:1900
5351	PLOD1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5351	PLOD1	HP:0007807	Optic nerve compression	-	OMIM:131300
5351	PLOD1	HP:0007800	Increased axial length of the globe	-	OMIM:154700
5351	PLOD1	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:1900
5351	PLOD1	HP:0012385	Camptodactyly	86/110	OMIM:121050
5351	PLOD1	HP:0012385	Camptodactyly	19/53	OMIM:154700
5351	PLOD1	HP:0012385	Camptodactyly	24/37	OMIM:182212
5351	PLOD1	HP:0000387	Absent earlobe	-	OMIM:130050
5351	PLOD1	HP:0012368	Flat face	7/7	OMIM:615777
5351	PLOD1	HP:0000377	Abnormal pinna morphology	HP:0040284	ORPHA:1900
5351	PLOD1	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
5351	PLOD1	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
5351	PLOD1	HP:0006532	Recurrent pneumonia	-	OMIM:225400
5351	PLOD1	HP:0006532	Recurrent pneumonia	HP:0040284	ORPHA:1900
5351	PLOD1	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
5351	PLOD1	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
5351	PLOD1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5351	PLOD1	HP:0002943	Thoracic scoliosis	HP:0040282	ORPHA:1900
5351	PLOD1	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
5351	PLOD1	HP:0006480	Premature loss of teeth	-	OMIM:130050
5351	PLOD1	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
5351	PLOD1	HP:0000365	Hearing impairment	10/67	OMIM:131300
5351	PLOD1	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
5351	PLOD1	HP:0000369	Low-set ears	32/37	OMIM:182212
5351	PLOD1	HP:0000343	Long philtrum	-	OMIM:208050
5351	PLOD1	HP:0000343	Long philtrum	1/7	OMIM:615777
5351	PLOD1	HP:0011001	Increased bone mineral density	-	OMIM:131300
5351	PLOD1	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0002999	Patellar dislocation	2/20	OMIM:121050
5351	PLOD1	HP:0000347	Micrognathia	-	OMIM:154700
5351	PLOD1	HP:0000347	Micrognathia	26/94	OMIM:121050
5351	PLOD1	HP:0000347	Micrognathia	5/14	OMIM:208050
5351	PLOD1	HP:0000347	Micrognathia	33/37	OMIM:182212
5351	PLOD1	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
5351	PLOD1	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
5351	PLOD1	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
5351	PLOD1	HP:0000316	Hypertelorism	6/16	OMIM:208050
5351	PLOD1	HP:0000316	Hypertelorism	28/37	OMIM:182212
5351	PLOD1	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
5351	PLOD1	HP:0000311	Round face	2/7	OMIM:615777
5351	PLOD1	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
5351	PLOD1	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
5351	PLOD1	HP:0001659	Aortic regurgitation	-	OMIM:208050
5351	PLOD1	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
5351	PLOD1	HP:0002987	Elbow flexion contracture	HP:0040284	ORPHA:1900
5351	PLOD1	HP:0001653	Mitral regurgitation	-	OMIM:121050
5351	PLOD1	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
5351	PLOD1	HP:0001629	Ventricular septal defect	-	OMIM:121050
5351	PLOD1	HP:0002970	Genu varum	-	OMIM:615777
5351	PLOD1	HP:0001635	Congestive heart failure	-	OMIM:225400
5351	PLOD1	HP:0001635	Congestive heart failure	-	OMIM:154700
5351	PLOD1	HP:0001635	Congestive heart failure	HP:0040284	ORPHA:1900
5351	PLOD1	HP:0001631	Atrial septal defect	-	OMIM:121050
5351	PLOD1	HP:0000303	Mandibular prognathia	-	OMIM:131300
5351	PLOD1	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
5351	PLOD1	HP:0001634	Mitral valve prolapse	-	OMIM:130050
5351	PLOD1	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
5351	PLOD1	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
5351	PLOD1	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
5351	PLOD1	HP:0031629	Impaired tandem gait	HP:0040284	ORPHA:1900
5351	PLOD1	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
5351	PLOD1	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
5351	PLOD1	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
5351	PLOD1	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
5351	PLOD1	HP:0000400	Macrotia	7/15	OMIM:208050
5351	PLOD1	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
5351	PLOD1	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
5351	PLOD1	HP:0005294	Arterial dissection	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0005280	Depressed nasal bridge	-	OMIM:225400
5351	PLOD1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5351	PLOD1	HP:0000483	Astigmatism	3/53	OMIM:154700
5351	PLOD1	HP:0000483	Astigmatism	5/15	OMIM:208050
5351	PLOD1	HP:0000486	Strabismus	110/573	OMIM:154700
5351	PLOD1	HP:0000486	Strabismus	HP:0040284	ORPHA:1900
5351	PLOD1	HP:0000486	Strabismus	17/37	OMIM:182212
5351	PLOD1	HP:0000482	Microcornea	1/1	OMIM:225400
5351	PLOD1	HP:0000482	Microcornea	HP:0040282	ORPHA:1900
5351	PLOD1	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:225400
5351	PLOD1	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
5351	PLOD1	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
5351	PLOD1	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
5351	PLOD1	HP:0000490	Deeply set eye	25/63	OMIM:154700
5351	PLOD1	HP:0000463	Anteverted nares	9/37	OMIM:182212
5351	PLOD1	HP:0001786	Narrow foot	33/53	OMIM:154700
5351	PLOD1	HP:0001788	Premature rupture of membranes	-	OMIM:225400
5351	PLOD1	HP:0000470	Short neck	-	OMIM:121050
5351	PLOD1	HP:0000470	Short neck	1/7	OMIM:615777
5351	PLOD1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5351	PLOD1	HP:0001763	Pes planus	-	OMIM:225400
5351	PLOD1	HP:0001763	Pes planus	27/53	OMIM:154700
5351	PLOD1	HP:0001763	Pes planus	1/7	OMIM:615777
5351	PLOD1	HP:0001763	Pes planus	HP:0040284	ORPHA:1900
5351	PLOD1	HP:0001763	Pes planus	-	OMIM:182212
5351	PLOD1	HP:0001765	Hammertoe	-	OMIM:154700
5351	PLOD1	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
5351	PLOD1	HP:0000418	Narrow nasal ridge	-	OMIM:130050
5351	PLOD1	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
5351	PLOD1	HP:0001762	Talipes equinovarus	-	OMIM:225400
5351	PLOD1	HP:0001762	Talipes equinovarus	-	OMIM:130050
5351	PLOD1	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:1900
5351	PLOD1	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
5351	PLOD1	HP:0001761	Pes cavus	49/146	OMIM:154700
5351	PLOD1	HP:0000518	Cataract	118/199	OMIM:154700
5351	PLOD1	HP:0001840	Metatarsus adductus	-	OMIM:121050
5351	PLOD1	HP:0001840	Metatarsus adductus	-	OMIM:182212
5351	PLOD1	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
5351	PLOD1	HP:0001840	Metatarsus adductus	-	OMIM:615777
5351	PLOD1	HP:0001842	Foot acroosteolysis	-	OMIM:130050
5351	PLOD1	HP:0000520	Proptosis	2/4	OMIM:131300
5351	PLOD1	HP:0000520	Proptosis	7/7	OMIM:615777
5351	PLOD1	HP:0000520	Proptosis	29/37	OMIM:182212
5351	PLOD1	HP:0000506	Telecanthus	-	OMIM:182212
5351	PLOD1	HP:0000508	Ptosis	1/1	OMIM:225400
5351	PLOD1	HP:0000508	Ptosis	16/37	OMIM:182212
5351	PLOD1	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
5351	PLOD1	HP:0000501	Glaucoma	-	OMIM:225400
5351	PLOD1	HP:0000501	Glaucoma	29/625	OMIM:154700
5351	PLOD1	HP:0000501	Glaucoma	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0000581	Blepharophimosis	-	OMIM:208050
5351	PLOD1	HP:0000577	Exotropia	72/626	OMIM:154700
5351	PLOD1	HP:0000592	Blue sclerae	1/1	OMIM:225400
5351	PLOD1	HP:0000592	Blue sclerae	2/7	OMIM:615777
5351	PLOD1	HP:0000592	Blue sclerae	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0000586	Shallow orbits	13/37	OMIM:182212
5351	PLOD1	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0000563	Keratoconus	-	OMIM:130050
5351	PLOD1	HP:0000563	Keratoconus	3/14	OMIM:208050
5351	PLOD1	HP:0000563	Keratoconus	-	OMIM:225400
5351	PLOD1	HP:0011220	Prominent forehead	17/37	OMIM:182212
5351	PLOD1	HP:0000565	Esotropia	12/573	OMIM:154700
5351	PLOD1	HP:0000541	Retinal detachment	-	OMIM:225400
5351	PLOD1	HP:0000541	Retinal detachment	-	OMIM:154700
5351	PLOD1	HP:0000541	Retinal detachment	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0000540	Hypermetropia	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5351	PLOD1	HP:0001883	Talipes	13/53	OMIM:154700
5351	PLOD1	HP:0012514	Lower limb pain	4/4	OMIM:131300
5351	PLOD1	HP:0000545	Myopia	-	OMIM:121050
5351	PLOD1	HP:0000545	Myopia	-	OMIM:225400
5351	PLOD1	HP:0000545	Myopia	HP:0040283	ORPHA:1900
5351	PLOD1	HP:0000545	Myopia	6/15	OMIM:208050
5351	PLOD1	HP:0000545	Myopia	93/251	OMIM:154700
5351	PLOD1	HP:0000545	Myopia	9/37	OMIM:182212
5352	PLOD2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5352	PLOD2	HP:0001293	Cranial nerve compression	-	OMIM:131300
5352	PLOD2	HP:0001256	Intellectual disability, mild	-	OMIM:259770
5352	PLOD2	HP:0001252	Hypotonia	-	OMIM:259770
5352	PLOD2	HP:0001252	Hypotonia	2/7	OMIM:615777
5352	PLOD2	HP:0001249	Intellectual disability	5/7	OMIM:615777
5352	PLOD2	HP:0001263	Global developmental delay	1/1	OMIM:612394
5352	PLOD2	HP:0001263	Global developmental delay	-	OMIM:615777
5352	PLOD2	HP:0002515	Waddling gait	54/102	OMIM:131300
5352	PLOD2	HP:0001371	Flexion contracture	-	OMIM:609220
5352	PLOD2	HP:0001387	Joint stiffness	HP:0040281	ORPHA:2771
5352	PLOD2	HP:0001382	Joint hypermobility	-	OMIM:259770
5352	PLOD2	HP:0001382	Joint hypermobility	-	OMIM:615777
5352	PLOD2	HP:0000023	Inguinal hernia	-	OMIM:609220
5352	PLOD2	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
5352	PLOD2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5352	PLOD2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5352	PLOD2	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
5352	PLOD2	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
5352	PLOD2	HP:0002659	Increased susceptibility to fractures	-	OMIM:609220
5352	PLOD2	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
5352	PLOD2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5352	PLOD2	HP:0001324	Muscle weakness	40/96	OMIM:131300
5352	PLOD2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5352	PLOD2	HP:6000807	Cervical C6/C7 vertebrae fusion	1/1	OMIM:609220
5352	PLOD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
5352	PLOD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:609220
5352	PLOD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5352	PLOD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
5352	PLOD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5352	PLOD2	HP:0002650	Scoliosis	1/5	OMIM:259770
5352	PLOD2	HP:0002650	Scoliosis	1/1	OMIM:612394
5352	PLOD2	HP:0002650	Scoliosis	HP:0040282	ORPHA:2771
5352	PLOD2	HP:0002650	Scoliosis	12/14	OMIM:131300
5352	PLOD2	HP:0002645	Wormian bones	HP:0040281	ORPHA:2771
5352	PLOD2	HP:0002645	Wormian bones	-	OMIM:609220
5352	PLOD2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5352	PLOD2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5352	PLOD2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5352	PLOD2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5352	PLOD2	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
5352	PLOD2	HP:0000175	Cleft palate	2/7	OMIM:615777
5352	PLOD2	HP:0002757	Recurrent fractures	4/5	OMIM:259770
5352	PLOD2	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:2771
5352	PLOD2	HP:0002756	Pathologic fracture	-	OMIM:259770
5352	PLOD2	HP:0002756	Pathologic fracture	1/1	OMIM:612394
5352	PLOD2	HP:0002751	Kyphoscoliosis	-	OMIM:259770
5352	PLOD2	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
5352	PLOD2	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:2771
5352	PLOD2	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
5352	PLOD2	HP:0003388	Easy fatigability	36/76	OMIM:131300
5352	PLOD2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5352	PLOD2	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
5352	PLOD2	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
5352	PLOD2	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
5352	PLOD2	HP:0002164	Nail dysplasia	1/1	OMIM:612394
5352	PLOD2	HP:0010557	Overlapping fingers	1/2	OMIM:612394
5352	PLOD2	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
5352	PLOD2	HP:0003593	Infantile onset	1/5	OMIM:259770
5352	PLOD2	HP:0003577	Congenital onset	4/5	OMIM:259770
5352	PLOD2	HP:0002208	Coarse hair	1/1	OMIM:612394
5352	PLOD2	HP:0003510	Severe short stature	7/7	OMIM:615777
5352	PLOD2	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
5352	PLOD2	HP:0025019	Arterial rupture	1/1	OMIM:612394
5352	PLOD2	HP:0001059	Pterygium	HP:0040282	ORPHA:2771
5352	PLOD2	HP:0001059	Pterygium	-	OMIM:609220
5352	PLOD2	HP:0002315	Headache	-	OMIM:131300
5352	PLOD2	HP:0004976	Knee dislocation	6/7	OMIM:615777
5352	PLOD2	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
5352	PLOD2	HP:0009803	Short phalanx of finger	-	OMIM:615777
5352	PLOD2	HP:0001089	Iris atrophy	-	OMIM:259770
5352	PLOD2	HP:0009763	Limb pain	63/92	OMIM:131300
5352	PLOD2	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
5352	PLOD2	HP:0003621	Juvenile onset	-	OMIM:131300
5352	PLOD2	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
5352	PLOD2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5352	PLOD2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5352	PLOD2	HP:6001056	Out-toeing	-	OMIM:131300
5352	PLOD2	HP:0000651	Diplopia	-	OMIM:131300
5352	PLOD2	HP:0000618	Blindness	5/5	OMIM:259770
5352	PLOD2	HP:0001956	Truncal obesity	2/7	OMIM:615777
5352	PLOD2	HP:6001098	Metaphyseal undermodelling	-	OMIM:609220
5352	PLOD2	HP:0001903	Anemia	HP:0040283	OMIM:131300
5352	PLOD2	HP:0010049	Short metacarpal	-	OMIM:615777
5352	PLOD2	HP:0000678	Dental crowding	-	OMIM:615777
5352	PLOD2	HP:0000670	Carious teeth	-	OMIM:131300
5352	PLOD2	HP:0011304	Broad thumb	2/7	OMIM:615777
5352	PLOD2	HP:0000668	Hypodontia	-	OMIM:615777
5352	PLOD2	HP:0000667	Phthisis bulbi	-	OMIM:259770
5352	PLOD2	HP:0000664	Synophrys	-	OMIM:615777
5352	PLOD2	HP:0004322	Short stature	HP:0040281	ORPHA:2771
5352	PLOD2	HP:0004322	Short stature	-	OMIM:259770
5352	PLOD2	HP:0004322	Short stature	-	OMIM:609220
5352	PLOD2	HP:0003080	Hydroxyprolinuria	-	OMIM:609220
5352	PLOD2	HP:0004396	Poor appetite	-	OMIM:131300
5352	PLOD2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5352	PLOD2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5352	PLOD2	HP:0003016	Metaphyseal widening	-	OMIM:259770
5352	PLOD2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5352	PLOD2	HP:0003026	Short long bone	7/7	OMIM:615777
5352	PLOD2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5352	PLOD2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5352	PLOD2	HP:0000768	Pectus carinatum	-	OMIM:609220
5352	PLOD2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5352	PLOD2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5352	PLOD2	HP:0000750	Delayed speech and language development	-	OMIM:615777
5352	PLOD2	HP:0011461	Fetal onset	7/7	OMIM:615777
5352	PLOD2	HP:0011461	Fetal onset	2/2	OMIM:612394
5352	PLOD2	HP:0000774	Narrow chest	2/7	OMIM:615777
5352	PLOD2	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
5352	PLOD2	HP:0003196	Short nose	1/1	OMIM:612394
5352	PLOD2	HP:0000926	Platyspondyly	-	OMIM:609220
5352	PLOD2	HP:0000926	Platyspondyly	-	OMIM:259770
5352	PLOD2	HP:0000926	Platyspondyly	1/7	OMIM:615777
5352	PLOD2	HP:0000926	Platyspondyly	1/1	OMIM:612394
5352	PLOD2	HP:0000926	Platyspondyly	HP:0040283	ORPHA:2771
5352	PLOD2	HP:0003180	Flat acetabular roof	-	OMIM:615777
5352	PLOD2	HP:0004482	Relative macrocephaly	-	OMIM:615777
5352	PLOD2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5352	PLOD2	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
5352	PLOD2	HP:0000823	Delayed puberty	-	OMIM:131300
5352	PLOD2	HP:0000894	Short clavicles	-	OMIM:615777
5352	PLOD2	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
5352	PLOD2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5352	PLOD2	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
5352	PLOD2	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
5352	PLOD2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5352	PLOD2	HP:0000939	Osteoporosis	4/5	OMIM:259770
5352	PLOD2	HP:0000939	Osteoporosis	HP:0040281	ORPHA:2771
5352	PLOD2	HP:0000938	Osteopenia	-	OMIM:609220
5352	PLOD2	HP:0000938	Osteopenia	1/5	OMIM:259770
5352	PLOD2	HP:0000938	Osteopenia	1/1	OMIM:612394
5352	PLOD2	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
5352	PLOD2	HP:0000286	Epicanthus	1/7	OMIM:615777
5352	PLOD2	HP:0000280	Coarse facial features	2/7	OMIM:615777
5352	PLOD2	HP:0000272	Malar flattening	1/1	OMIM:612394
5352	PLOD2	HP:0007773	Vitreoretinopathy	-	OMIM:259770
5352	PLOD2	HP:0002827	Hip dislocation	3/7	OMIM:615777
5352	PLOD2	HP:0002808	Kyphosis	1/5	OMIM:259770
5352	PLOD2	HP:0002808	Kyphosis	HP:0040282	ORPHA:2771
5352	PLOD2	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:2771
5352	PLOD2	HP:0006380	Knee flexion contracture	-	OMIM:609220
5352	PLOD2	HP:0000252	Microcephaly	-	OMIM:259770
5352	PLOD2	HP:0000252	Microcephaly	-	OMIM:615777
5352	PLOD2	HP:0001552	Barrel-shaped chest	-	OMIM:259770
5352	PLOD2	HP:0002857	Genu valgum	-	OMIM:131300
5352	PLOD2	HP:0001533	Slender build	-	OMIM:131300
5352	PLOD2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5352	PLOD2	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
5352	PLOD2	HP:0007807	Optic nerve compression	-	OMIM:131300
5352	PLOD2	HP:0012368	Flat face	7/7	OMIM:615777
5352	PLOD2	HP:0012368	Flat face	1/1	OMIM:612394
5352	PLOD2	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
5352	PLOD2	HP:0007875	Congenital blindness	4/5	OMIM:259770
5352	PLOD2	HP:0007862	Retinal calcification	1/5	OMIM:259770
5352	PLOD2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5352	PLOD2	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:2771
5352	PLOD2	HP:0000365	Hearing impairment	10/67	OMIM:131300
5352	PLOD2	HP:0000369	Low-set ears	2/2	OMIM:612394
5352	PLOD2	HP:0000343	Long philtrum	1/7	OMIM:615777
5352	PLOD2	HP:0011001	Increased bone mineral density	-	OMIM:131300
5352	PLOD2	HP:0002982	Tibial bowing	1/5	OMIM:259770
5352	PLOD2	HP:0002980	Femoral bowing	-	OMIM:609220
5352	PLOD2	HP:0000311	Round face	2/7	OMIM:615777
5352	PLOD2	HP:0002987	Elbow flexion contracture	-	OMIM:609220
5352	PLOD2	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
5352	PLOD2	HP:0000325	Triangular face	HP:0040282	ORPHA:2771
5352	PLOD2	HP:0001629	Ventricular septal defect	-	OMIM:259770
5352	PLOD2	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
5352	PLOD2	HP:0002970	Genu varum	-	OMIM:615777
5352	PLOD2	HP:0000307	Pointed chin	1/2	OMIM:612394
5352	PLOD2	HP:0000303	Mandibular prognathia	-	OMIM:131300
5352	PLOD2	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
5352	PLOD2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5352	PLOD2	HP:0000463	Anteverted nares	1/1	OMIM:612394
5352	PLOD2	HP:0000470	Short neck	1/7	OMIM:615777
5352	PLOD2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5352	PLOD2	HP:0001763	Pes planus	1/7	OMIM:615777
5352	PLOD2	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
5352	PLOD2	HP:0001762	Talipes equinovarus	-	OMIM:609220
5352	PLOD2	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:2771
5352	PLOD2	HP:0000518	Cataract	1/5	OMIM:259770
5352	PLOD2	HP:0000518	Cataract	1/1	OMIM:612394
5352	PLOD2	HP:0001840	Metatarsus adductus	-	OMIM:615777
5352	PLOD2	HP:0000520	Proptosis	2/4	OMIM:131300
5352	PLOD2	HP:0000520	Proptosis	7/7	OMIM:615777
5352	PLOD2	HP:0000592	Blue sclerae	2/7	OMIM:615777
5352	PLOD2	HP:0000586	Shallow orbits	1/1	OMIM:612394
5352	PLOD2	HP:0000568	Microphthalmia	1/5	OMIM:259770
5352	PLOD2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5352	PLOD2	HP:0012514	Lower limb pain	4/4	OMIM:131300
5352	PLOD2	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
5352	PLOD2	HP:0000545	Myopia	1/1	OMIM:612394
5354	PLP1	HP:0002478	Progressive spastic quadriplegia	HP:0040283	ORPHA:280234
5354	PLP1	HP:0002478	Progressive spastic quadriplegia	HP:0040281	OMIM:312080
5354	PLP1	HP:0007325	Generalized dystonia	1/1	OMIM:312080
5354	PLP1	HP:0010936	Abnormality of the lower urinary tract	HP:0040283	ORPHA:280229
5354	PLP1	HP:0007266	Cerebral dysmyelination	-	OMIM:312080
5354	PLP1	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:280219
5354	PLP1	HP:0007256	Abnormal pyramidal sign	HP:0040281	OMIM:312080
5354	PLP1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:280210
5354	PLP1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:280224
5354	PLP1	HP:0007210	Lower limb amyotrophy	HP:0040281	ORPHA:280210
5354	PLP1	HP:0002421	Poor head control	HP:0040282	ORPHA:280210
5354	PLP1	HP:0002421	Poor head control	HP:0040282	ORPHA:280219
5354	PLP1	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:280229
5354	PLP1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:280229
5354	PLP1	HP:0001268	Mental deterioration	1/1	OMIM:312080
5354	PLP1	HP:0002599	Head titubation	1/1	OMIM:312080
5354	PLP1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:280210
5354	PLP1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:280219
5354	PLP1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:280234
5354	PLP1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:280229
5354	PLP1	HP:0001285	Spastic tetraparesis	HP:0040282	ORPHA:280224
5354	PLP1	HP:0001285	Spastic tetraparesis	HP:0040282	ORPHA:280219
5354	PLP1	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:280219
5354	PLP1	HP:0001256	Intellectual disability, mild	3/11	OMIM:312920
5354	PLP1	HP:0001250	Seizure	8/15	OMIM:312080
5354	PLP1	HP:0001252	Hypotonia	HP:0040282	ORPHA:280210
5354	PLP1	HP:0001252	Hypotonia	HP:0040282	ORPHA:280219
5354	PLP1	HP:0001252	Hypotonia	HP:0040283	ORPHA:280229
5354	PLP1	HP:0001252	Hypotonia	8/8	OMIM:312080
5354	PLP1	HP:0001251	Ataxia	HP:0040283	ORPHA:99015
5354	PLP1	HP:0001251	Ataxia	7/7	OMIM:312080
5354	PLP1	HP:0001251	Ataxia	HP:0040282	ORPHA:280210
5354	PLP1	HP:0001251	Ataxia	HP:0040281	ORPHA:280219
5354	PLP1	HP:0001251	Ataxia	HP:0040282	ORPHA:280234
5354	PLP1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:99015
5354	PLP1	HP:0001249	Intellectual disability	5/5	OMIM:312080
5354	PLP1	HP:0001249	Intellectual disability	-	OMIM:312920
5354	PLP1	HP:0001265	Hyporeflexia	4/7	OMIM:312080
5354	PLP1	HP:0001266	Choreoathetosis	HP:0040282	OMIM:312080
5354	PLP1	HP:0001260	Dysarthria	HP:0040283	ORPHA:99015
5354	PLP1	HP:0001260	Dysarthria	HP:0040282	ORPHA:280210
5354	PLP1	HP:0001260	Dysarthria	6/11	OMIM:312080
5354	PLP1	HP:0001260	Dysarthria	-	OMIM:312920
5354	PLP1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:280219
5354	PLP1	HP:0001263	Global developmental delay	9/9	OMIM:312080
5354	PLP1	HP:0001258	Spastic paraplegia	1/1	OMIM:312080
5354	PLP1	HP:0001258	Spastic paraplegia	-	OMIM:312920
5354	PLP1	HP:0001257	Spasticity	HP:0040281	ORPHA:99015
5354	PLP1	HP:0001257	Spasticity	HP:0040282	ORPHA:280219
5354	PLP1	HP:0007413	Nevus flammeus of the forehead	HP:0040283	ORPHA:280229
5354	PLP1	HP:0007377	Abnormality of somatosensory evoked potentials	HP:0040282	ORPHA:280219
5354	PLP1	HP:0007340	Lower limb muscle weakness	-	OMIM:312920
5354	PLP1	HP:0002540	Inability to walk	HP:0040282	ORPHA:280210
5354	PLP1	HP:0002540	Inability to walk	HP:0040283	ORPHA:280234
5354	PLP1	HP:0002540	Inability to walk	HP:0040283	ORPHA:280229
5354	PLP1	HP:0002540	Inability to walk	1/1	OMIM:312080
5354	PLP1	HP:0002505	Loss of ambulation	5/11	OMIM:312920
5354	PLP1	HP:0002503	Spinocerebellar tract degeneration	-	OMIM:312920
5354	PLP1	HP:0012043	Pendular nystagmus	HP:0040282	ORPHA:280210
5354	PLP1	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:99015
5354	PLP1	HP:0001371	Flexion contracture	-	OMIM:312920
5354	PLP1	HP:0025336	Delayed ability to sit	HP:0040282	ORPHA:280219
5354	PLP1	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:99015
5354	PLP1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:280229
5354	PLP1	HP:0001347	Hyperreflexia	-	OMIM:312920
5354	PLP1	HP:0001332	Dystonia	HP:0040282	ORPHA:280219
5354	PLP1	HP:0001332	Dystonia	HP:0040281	OMIM:312080
5354	PLP1	HP:0033725	Thin corpus callosum	1/1	OMIM:312080
5354	PLP1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:99015
5354	PLP1	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:280229
5354	PLP1	HP:0001344	Absent speech	HP:0040282	ORPHA:280210
5354	PLP1	HP:0000012	Urinary urgency	1/1	OMIM:312080
5354	PLP1	HP:0001337	Tremor	1/1	OMIM:312080
5354	PLP1	HP:0001310	Dysmetria	-	OMIM:312920
5354	PLP1	HP:0001302	Pachygyria	HP:0040282	ORPHA:280210
5354	PLP1	HP:0002650	Scoliosis	1/1	OMIM:312080
5354	PLP1	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:280210
5354	PLP1	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:280234
5354	PLP1	HP:0001317	Abnormal cerebellum morphology	-	OMIM:312920
5354	PLP1	HP:0002607	Bowel incontinence	HP:0040282	ORPHA:99015
5354	PLP1	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:280219
5354	PLP1	HP:0001419	X-linked recessive inheritance	-	OMIM:312080
5354	PLP1	HP:0001419	X-linked recessive inheritance	-	OMIM:312920
5354	PLP1	HP:0032588	Hand apraxia	HP:0040283	ORPHA:280229
5354	PLP1	HP:0002015	Dysphagia	6/11	OMIM:312080
5354	PLP1	HP:0040330	Confluent hyperintensity of cerebral white matter on MRI	HP:0040282	ORPHA:280210
5354	PLP1	HP:0040330	Confluent hyperintensity of cerebral white matter on MRI	HP:0040281	ORPHA:280219
5354	PLP1	HP:0011800	Midface retrusion	HP:0040283	ORPHA:280229
5354	PLP1	HP:0002080	Intention tremor	1/1	OMIM:312080
5354	PLP1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:280219
5354	PLP1	HP:0100543	Cognitive impairment	HP:0040281	OMIM:312080
5354	PLP1	HP:0002064	Spastic gait	HP:0040281	ORPHA:99015
5354	PLP1	HP:0002064	Spastic gait	-	OMIM:312920
5354	PLP1	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:280210
5354	PLP1	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:280229
5354	PLP1	HP:0002061	Lower limb spasticity	-	OMIM:312920
5354	PLP1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:99015
5354	PLP1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:280219
5354	PLP1	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:280210
5354	PLP1	HP:0003487	Babinski sign	HP:0040281	ORPHA:99015
5354	PLP1	HP:0003487	Babinski sign	HP:0040283	ORPHA:280229
5354	PLP1	HP:0003487	Babinski sign	-	OMIM:312920
5354	PLP1	HP:0002136	Broad-based gait	1/1	OMIM:312080
5354	PLP1	HP:0003429	CNS hypomyelination	HP:0040281	ORPHA:280224
5354	PLP1	HP:0003429	CNS hypomyelination	HP:0040281	ORPHA:280234
5354	PLP1	HP:0003429	CNS hypomyelination	HP:0040283	ORPHA:280229
5354	PLP1	HP:0003429	CNS hypomyelination	1/1	OMIM:312080
5354	PLP1	HP:0002197	Generalized-onset seizure	HP:0040283	ORPHA:280229
5354	PLP1	HP:0002168	Scanning speech	-	OMIM:312080
5354	PLP1	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:280219
5354	PLP1	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:280229
5354	PLP1	HP:0002171	Gliosis	HP:0040281	ORPHA:280210
5354	PLP1	HP:0003593	Infantile onset	9/9	OMIM:312080
5354	PLP1	HP:0003593	Infantile onset	2/10	OMIM:312920
5354	PLP1	HP:0100709	Reduction of oligodendroglia	HP:0040282	OMIM:312080
5354	PLP1	HP:0004886	Congenital laryngeal stridor	HP:0040283	OMIM:312080
5354	PLP1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:99015
5354	PLP1	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:99015
5354	PLP1	HP:0002283	Global brain atrophy	1/1	OMIM:312080
5354	PLP1	HP:0007020	Progressive spastic paraplegia	HP:0040282	ORPHA:280234
5354	PLP1	HP:0032044	Decreased vigilance	HP:0040283	ORPHA:280229
5354	PLP1	HP:0430015	Abnormal morphology of musculature of pharynx	HP:0040282	ORPHA:280210
5354	PLP1	HP:0002361	Psychomotor deterioration	1/1	OMIM:312080
5354	PLP1	HP:0002376	Developmental regression	HP:0040283	ORPHA:280229
5354	PLP1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:280224
5354	PLP1	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:280234
5354	PLP1	HP:0002356	Writer's cramp	1/1	OMIM:312080
5354	PLP1	HP:0002346	Head tremor	HP:0040282	ORPHA:280219
5354	PLP1	HP:0003677	Slowly progressive	-	OMIM:312080
5354	PLP1	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:280229
5354	PLP1	HP:0002314	Degeneration of the lateral corticospinal tracts	-	OMIM:312920
5354	PLP1	HP:0007108	Demyelinating peripheral neuropathy	HP:0040281	ORPHA:280234
5354	PLP1	HP:0002310	Orofacial dyskinesia	HP:0040283	ORPHA:280219
5354	PLP1	HP:0002305	Athetosis	HP:0040282	ORPHA:280219
5354	PLP1	HP:0003621	Juvenile onset	3/10	OMIM:312920
5354	PLP1	HP:0006855	Cerebellar vermis atrophy	1/1	OMIM:312080
5354	PLP1	HP:0006808	Cerebral hypomyelination	HP:0040281	ORPHA:280219
5354	PLP1	HP:0006808	Cerebral hypomyelination	HP:0040281	ORPHA:280210
5354	PLP1	HP:0000639	Nystagmus	HP:0040283	ORPHA:99015
5354	PLP1	HP:0000639	Nystagmus	7/8	OMIM:312080
5354	PLP1	HP:0000639	Nystagmus	10/11	OMIM:312920
5354	PLP1	HP:0000639	Nystagmus	HP:0040281	ORPHA:280210
5354	PLP1	HP:0000639	Nystagmus	HP:0040281	ORPHA:280224
5354	PLP1	HP:0000639	Nystagmus	HP:0040281	ORPHA:280219
5354	PLP1	HP:0000639	Nystagmus	-	ORPHA:280234
5354	PLP1	HP:0000639	Nystagmus	HP:0040283	ORPHA:280229
5354	PLP1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:99015
5354	PLP1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:280234
5354	PLP1	HP:0000648	Optic atrophy	1/1	OMIM:312080
5354	PLP1	HP:0000648	Optic atrophy	-	OMIM:312920
5354	PLP1	HP:0011343	Moderate global developmental delay	HP:0040283	ORPHA:280229
5354	PLP1	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:280229
5354	PLP1	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:280229
5354	PLP1	HP:0004322	Short stature	HP:0040283	ORPHA:280210
5354	PLP1	HP:0004322	Short stature	HP:0040282	OMIM:312080
5354	PLP1	HP:0031954	Dystonic gait	HP:0040282	ORPHA:280210
5354	PLP1	HP:0031954	Dystonic gait	HP:0040283	ORPHA:280219
5354	PLP1	HP:0004302	Functional motor deficit	HP:0040282	ORPHA:280210
5354	PLP1	HP:0031936	Delayed ability to walk	HP:0040281	ORPHA:280219
5354	PLP1	HP:0011400	Abnormal CNS myelination	HP:0040281	OMIM:312080
5354	PLP1	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:99015
5354	PLP1	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:280234
5354	PLP1	HP:0000750	Delayed speech and language development	HP:0040282	OMIM:312080
5354	PLP1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:280219
5354	PLP1	HP:0000741	Apathy	1/1	OMIM:312080
5354	PLP1	HP:0000716	Depression	1/1	OMIM:312080
5354	PLP1	HP:0011463	Childhood onset	5/10	OMIM:312920
5354	PLP1	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:280234
5354	PLP1	HP:0030784	Anomic aphasia	HP:0040283	ORPHA:280229
5354	PLP1	HP:0003134	Abnormality of peripheral nerve conduction	HP:0040281	ORPHA:280234
5354	PLP1	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040283	ORPHA:280229
5354	PLP1	HP:0003202	Skeletal muscle atrophy	-	OMIM:312920
5354	PLP1	HP:0003269	Sudanophilic leukodystrophy	HP:0040282	OMIM:312080
5354	PLP1	HP:0001583	Rotary nystagmus	-	OMIM:312080
5354	PLP1	HP:0000252	Microcephaly	1/1	OMIM:312080
5354	PLP1	HP:0002878	Respiratory failure	HP:0040283	ORPHA:280210
5354	PLP1	HP:0001508	Failure to thrive	HP:0040282	OMIM:312080
5354	PLP1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:280210
5354	PLP1	HP:0001510	Growth delay	HP:0040283	ORPHA:280229
5354	PLP1	HP:0006511	Laryngeal stridor	HP:0040282	ORPHA:280210
5354	PLP1	HP:0011096	Peripheral demyelination	HP:0040281	ORPHA:280234
5354	PLP1	HP:0030187	Titubation	HP:0040282	ORPHA:280210
5354	PLP1	HP:0030187	Titubation	HP:0040282	ORPHA:280219
5354	PLP1	HP:0000365	Hearing impairment	HP:0040283	OMIM:312080
5354	PLP1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:280229
5354	PLP1	HP:0005340	Spastic/hyperactive bladder	HP:0040282	ORPHA:99015
5354	PLP1	HP:0000490	Deeply set eye	HP:0040283	ORPHA:280229
5354	PLP1	HP:0012447	Abnormal myelination	HP:0040281	ORPHA:280210
5354	PLP1	HP:0001761	Pes cavus	-	OMIM:312920
5354	PLP1	HP:0000511	Vertical supranuclear gaze palsy	1/1	OMIM:312080
5354	PLP1	HP:0011203	EEG with abnormally slow frequencies	HP:0040281	ORPHA:280219
5357	PLS1	HP:0002403	Positive Romberg sign	0/4	OMIM:618787
5357	PLS1	HP:0001270	Motor delay	0/4	OMIM:618787
5357	PLS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618787
5357	PLS1	HP:0003593	Infantile onset	-	OMIM:618787
5357	PLS1	HP:0000407	Sensorineural hearing impairment	4/4	OMIM:618787
5357	PLS1	HP:0001751	Abnormal vestibular function	0/4	OMIM:618787
5358	PLS3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5358	PLS3	HP:0001293	Cranial nerve compression	-	OMIM:131300
5358	PLS3	HP:0001256	Intellectual disability, mild	-	OMIM:259770
5358	PLS3	HP:0001252	Hypotonia	-	OMIM:259770
5358	PLS3	HP:0001252	Hypotonia	2/7	OMIM:615777
5358	PLS3	HP:0001249	Intellectual disability	5/7	OMIM:615777
5358	PLS3	HP:0001263	Global developmental delay	1/1	OMIM:612394
5358	PLS3	HP:0001263	Global developmental delay	-	OMIM:615777
5358	PLS3	HP:0002515	Waddling gait	54/102	OMIM:131300
5358	PLS3	HP:0003811	Neonatal death	-	OMIM:306950
5358	PLS3	HP:0001382	Joint hypermobility	-	OMIM:259770
5358	PLS3	HP:0001382	Joint hypermobility	-	OMIM:615777
5358	PLS3	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
5358	PLS3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5358	PLS3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5358	PLS3	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
5358	PLS3	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
5358	PLS3	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
5358	PLS3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5358	PLS3	HP:0001324	Muscle weakness	40/96	OMIM:131300
5358	PLS3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5358	PLS3	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
5358	PLS3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5358	PLS3	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
5358	PLS3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5358	PLS3	HP:0002650	Scoliosis	1/5	OMIM:259770
5358	PLS3	HP:0002650	Scoliosis	1/1	OMIM:612394
5358	PLS3	HP:0002650	Scoliosis	12/14	OMIM:131300
5358	PLS3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5358	PLS3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5358	PLS3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5358	PLS3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5358	PLS3	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
5358	PLS3	HP:0000175	Cleft palate	2/7	OMIM:615777
5358	PLS3	HP:0002757	Recurrent fractures	4/5	OMIM:259770
5358	PLS3	HP:0002756	Pathologic fracture	-	OMIM:259770
5358	PLS3	HP:0002756	Pathologic fracture	1/1	OMIM:612394
5358	PLS3	HP:0002751	Kyphoscoliosis	-	OMIM:259770
5358	PLS3	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
5358	PLS3	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
5358	PLS3	HP:0003388	Easy fatigability	36/76	OMIM:131300
5358	PLS3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5358	PLS3	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
5358	PLS3	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
5358	PLS3	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
5358	PLS3	HP:0002164	Nail dysplasia	1/1	OMIM:612394
5358	PLS3	HP:0010557	Overlapping fingers	1/2	OMIM:612394
5358	PLS3	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
5358	PLS3	HP:0003593	Infantile onset	1/5	OMIM:259770
5358	PLS3	HP:0003577	Congenital onset	4/5	OMIM:259770
5358	PLS3	HP:0002208	Coarse hair	1/1	OMIM:612394
5358	PLS3	HP:0003510	Severe short stature	7/7	OMIM:615777
5358	PLS3	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
5358	PLS3	HP:0025019	Arterial rupture	1/1	OMIM:612394
5358	PLS3	HP:0002315	Headache	-	OMIM:131300
5358	PLS3	HP:0004976	Knee dislocation	6/7	OMIM:615777
5358	PLS3	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
5358	PLS3	HP:0009803	Short phalanx of finger	-	OMIM:615777
5358	PLS3	HP:0001089	Iris atrophy	-	OMIM:259770
5358	PLS3	HP:0009763	Limb pain	63/92	OMIM:131300
5358	PLS3	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
5358	PLS3	HP:0003621	Juvenile onset	-	OMIM:131300
5358	PLS3	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
5358	PLS3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5358	PLS3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5358	PLS3	HP:6001056	Out-toeing	-	OMIM:131300
5358	PLS3	HP:0000651	Diplopia	-	OMIM:131300
5358	PLS3	HP:0000618	Blindness	5/5	OMIM:259770
5358	PLS3	HP:0001956	Truncal obesity	2/7	OMIM:615777
5358	PLS3	HP:0001903	Anemia	HP:0040283	OMIM:131300
5358	PLS3	HP:0010049	Short metacarpal	-	OMIM:615777
5358	PLS3	HP:0000678	Dental crowding	-	OMIM:615777
5358	PLS3	HP:0000670	Carious teeth	-	OMIM:131300
5358	PLS3	HP:0011304	Broad thumb	2/7	OMIM:615777
5358	PLS3	HP:0000668	Hypodontia	-	OMIM:615777
5358	PLS3	HP:0000667	Phthisis bulbi	-	OMIM:259770
5358	PLS3	HP:0000664	Synophrys	-	OMIM:615777
5358	PLS3	HP:0004322	Short stature	-	OMIM:259770
5358	PLS3	HP:0004396	Poor appetite	-	OMIM:131300
5358	PLS3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5358	PLS3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5358	PLS3	HP:0003016	Metaphyseal widening	-	OMIM:259770
5358	PLS3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5358	PLS3	HP:0003026	Short long bone	7/7	OMIM:615777
5358	PLS3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5358	PLS3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5358	PLS3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5358	PLS3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5358	PLS3	HP:0000750	Delayed speech and language development	-	OMIM:615777
5358	PLS3	HP:0011461	Fetal onset	7/7	OMIM:615777
5358	PLS3	HP:0011461	Fetal onset	2/2	OMIM:612394
5358	PLS3	HP:0000774	Narrow chest	2/7	OMIM:615777
5358	PLS3	HP:0000776	Congenital diaphragmatic hernia	-	OMIM:306950
5358	PLS3	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
5358	PLS3	HP:0003196	Short nose	1/1	OMIM:612394
5358	PLS3	HP:0000926	Platyspondyly	-	OMIM:259770
5358	PLS3	HP:0000926	Platyspondyly	1/7	OMIM:615777
5358	PLS3	HP:0000926	Platyspondyly	1/1	OMIM:612394
5358	PLS3	HP:0003180	Flat acetabular roof	-	OMIM:615777
5358	PLS3	HP:0004482	Relative macrocephaly	-	OMIM:615777
5358	PLS3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5358	PLS3	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
5358	PLS3	HP:0000823	Delayed puberty	-	OMIM:131300
5358	PLS3	HP:0000894	Short clavicles	-	OMIM:615777
5358	PLS3	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
5358	PLS3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5358	PLS3	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
5358	PLS3	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
5358	PLS3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5358	PLS3	HP:0000939	Osteoporosis	4/5	OMIM:259770
5358	PLS3	HP:0000938	Osteopenia	1/5	OMIM:259770
5358	PLS3	HP:0000938	Osteopenia	1/1	OMIM:612394
5358	PLS3	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
5358	PLS3	HP:0000286	Epicanthus	1/7	OMIM:615777
5358	PLS3	HP:0000280	Coarse facial features	2/7	OMIM:615777
5358	PLS3	HP:0000272	Malar flattening	1/1	OMIM:612394
5358	PLS3	HP:0007773	Vitreoretinopathy	-	OMIM:259770
5358	PLS3	HP:0002827	Hip dislocation	3/7	OMIM:615777
5358	PLS3	HP:0002808	Kyphosis	1/5	OMIM:259770
5358	PLS3	HP:0000252	Microcephaly	-	OMIM:259770
5358	PLS3	HP:0000252	Microcephaly	-	OMIM:615777
5358	PLS3	HP:0001552	Barrel-shaped chest	-	OMIM:259770
5358	PLS3	HP:0002857	Genu valgum	-	OMIM:131300
5358	PLS3	HP:0001533	Slender build	-	OMIM:131300
5358	PLS3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5358	PLS3	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
5358	PLS3	HP:0007807	Optic nerve compression	-	OMIM:131300
5358	PLS3	HP:0012368	Flat face	7/7	OMIM:615777
5358	PLS3	HP:0012368	Flat face	1/1	OMIM:612394
5358	PLS3	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
5358	PLS3	HP:0007875	Congenital blindness	4/5	OMIM:259770
5358	PLS3	HP:0007862	Retinal calcification	1/5	OMIM:259770
5358	PLS3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5358	PLS3	HP:0000365	Hearing impairment	10/67	OMIM:131300
5358	PLS3	HP:0000369	Low-set ears	2/2	OMIM:612394
5358	PLS3	HP:0000343	Long philtrum	1/7	OMIM:615777
5358	PLS3	HP:0011001	Increased bone mineral density	-	OMIM:131300
5358	PLS3	HP:0002982	Tibial bowing	1/5	OMIM:259770
5358	PLS3	HP:0000311	Round face	2/7	OMIM:615777
5358	PLS3	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
5358	PLS3	HP:0001629	Ventricular septal defect	-	OMIM:259770
5358	PLS3	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
5358	PLS3	HP:0002970	Genu varum	-	OMIM:615777
5358	PLS3	HP:0000307	Pointed chin	1/2	OMIM:612394
5358	PLS3	HP:0000303	Mandibular prognathia	-	OMIM:131300
5358	PLS3	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
5358	PLS3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5358	PLS3	HP:0000463	Anteverted nares	1/1	OMIM:612394
5358	PLS3	HP:0000470	Short neck	1/7	OMIM:615777
5358	PLS3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5358	PLS3	HP:0001763	Pes planus	1/7	OMIM:615777
5358	PLS3	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
5358	PLS3	HP:0000518	Cataract	1/5	OMIM:259770
5358	PLS3	HP:0000518	Cataract	1/1	OMIM:612394
5358	PLS3	HP:0001840	Metatarsus adductus	-	OMIM:615777
5358	PLS3	HP:0000520	Proptosis	2/4	OMIM:131300
5358	PLS3	HP:0000520	Proptosis	7/7	OMIM:615777
5358	PLS3	HP:0000592	Blue sclerae	2/7	OMIM:615777
5358	PLS3	HP:0000586	Shallow orbits	1/1	OMIM:612394
5358	PLS3	HP:0000568	Microphthalmia	1/5	OMIM:259770
5358	PLS3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5358	PLS3	HP:0012514	Lower limb pain	4/4	OMIM:131300
5358	PLS3	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
5358	PLS3	HP:0000545	Myopia	1/1	OMIM:612394
5361	PLXNA1	HP:0001274	Agenesis of corpus callosum	1/7	OMIM:619955
5361	PLXNA1	HP:0001250	Seizure	1/7	OMIM:619955
5361	PLXNA1	HP:0001263	Global developmental delay	6/7	OMIM:619955
5361	PLXNA1	HP:0000076	Vesicoureteral reflux	1/7	OMIM:619955
5361	PLXNA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619955
5361	PLXNA1	HP:0003477	Peripheral axonal neuropathy	1/7	OMIM:619955
5361	PLXNA1	HP:0009748	Large earlobe	1/7	OMIM:619955
5361	PLXNA1	HP:0002395	Lower limb hyperreflexia	1/7	OMIM:619955
5361	PLXNA1	HP:0003623	Neonatal onset	1/7	OMIM:619955
5361	PLXNA1	HP:0000639	Nystagmus	1/7	OMIM:619955
5361	PLXNA1	HP:0000691	Microdontia	1/7	OMIM:619955
5361	PLXNA1	HP:0006989	Dysplastic corpus callosum	1/7	OMIM:619955
5361	PLXNA1	HP:0000729	Autistic behavior	3/7	OMIM:619955
5361	PLXNA1	HP:0011463	Childhood onset	6/7	OMIM:619955
5361	PLXNA1	HP:0003236	Elevated circulating creatine kinase concentration	1/7	OMIM:619955
5361	PLXNA1	HP:0007766	Optic disc hypoplasia	1/7	OMIM:619955
5361	PLXNA1	HP:0000252	Microcephaly	1/7	OMIM:619955
5361	PLXNA1	HP:0030048	Colpocephaly	1/7	OMIM:619955
5361	PLXNA1	HP:0000378	Cupped ear	1/7	OMIM:619955
5361	PLXNA1	HP:0005338	Sparse lateral eyebrow	1/7	OMIM:619955
5361	PLXNA1	HP:0005280	Depressed nasal bridge	1/7	OMIM:619955
5361	PLXNA1	HP:0000486	Strabismus	1/7	OMIM:619955
5361	PLXNA1	HP:0000470	Short neck	1/7	OMIM:619955
5361	PLXNA1	HP:0000508	Ptosis	2/7	OMIM:619955
5361	PLXNA1	HP:0012583	Unilateral renal hypoplasia	1/7	OMIM:619955
5361	PLXNA1	HP:0012520	Dilation of Virchow-Robin spaces	1/7	OMIM:619955
5371	PML	HP:0031035	Chronic infection	HP:0040282	ORPHA:520
5371	PML	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:520
5371	PML	HP:0001324	Muscle weakness	HP:0040282	ORPHA:520
5371	PML	HP:0002653	Bone pain	HP:0040283	ORPHA:520
5371	PML	HP:0025420	Diffuse alveolar hemorrhage	HP:0040283	ORPHA:520
5371	PML	HP:0031245	Productive cough	HP:0040283	ORPHA:520
5371	PML	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:520
5371	PML	HP:0002027	Abdominal pain	HP:0040283	ORPHA:520
5371	PML	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:520
5371	PML	HP:0002039	Anorexia	HP:0040282	ORPHA:520
5371	PML	HP:0011900	Hypofibrinogenemia	HP:0040283	ORPHA:520
5371	PML	HP:0100758	Gangrene	HP:0040284	ORPHA:520
5371	PML	HP:0002321	Vertigo	HP:0040282	ORPHA:520
5371	PML	HP:0100608	Metrorrhagia	HP:0040284	ORPHA:520
5371	PML	HP:0005521	Disseminated intravascular coagulation	HP:0040282	ORPHA:520
5371	PML	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:520
5371	PML	HP:0001945	Fever	HP:0040282	ORPHA:520
5371	PML	HP:0001903	Anemia	HP:0040282	ORPHA:520
5371	PML	HP:0000790	Hematuria	HP:0040284	ORPHA:520
5371	PML	HP:0010280	Stomatitis	HP:0040283	ORPHA:520
5371	PML	HP:0000979	Purpura	HP:0040282	ORPHA:520
5371	PML	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:520
5371	PML	HP:0000967	Petechiae	HP:0040282	ORPHA:520
5371	PML	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:520
5371	PML	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:520
5371	PML	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:520
5371	PML	HP:0031364	Ecchymosis	HP:0040282	ORPHA:520
5371	PML	HP:0012378	Fatigue	HP:0040282	ORPHA:520
5371	PML	HP:0030140	Oral cavity bleeding	HP:0040283	ORPHA:520
5371	PML	HP:0000421	Epistaxis	HP:0040282	ORPHA:520
5371	PML	HP:0001824	Weight loss	HP:0040282	ORPHA:520
5371	PML	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:520
5371	PML	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:520
5371	PML	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:520
5371	PML	HP:0001876	Pancytopenia	HP:0040282	ORPHA:520
5371	PML	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:520
5373	PMM2	HP:0002401	Stroke-like episode	-	OMIM:212065
5373	PMM2	HP:0100807	Long fingers	HP:0040282	ORPHA:79318
5373	PMM2	HP:0001272	Cerebellar atrophy	1/3	OMIM:212065
5373	PMM2	HP:0001271	Polyneuropathy	-	OMIM:212065
5373	PMM2	HP:0001284	Areflexia	11/20	OMIM:212065
5373	PMM2	HP:0001250	Seizure	5/20	OMIM:212065
5373	PMM2	HP:0001250	Seizure	HP:0040282	ORPHA:79318
5373	PMM2	HP:0001252	Hypotonia	19/23	OMIM:212065
5373	PMM2	HP:0001251	Ataxia	12/13	OMIM:212065
5373	PMM2	HP:0001251	Ataxia	HP:0040283	ORPHA:79318
5373	PMM2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:79318
5373	PMM2	HP:0001265	Hyporeflexia	-	OMIM:212065
5373	PMM2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:79318
5373	PMM2	HP:0001260	Dysarthria	1/3	OMIM:212065
5373	PMM2	HP:0001263	Global developmental delay	21/23	OMIM:212065
5373	PMM2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:79318
5373	PMM2	HP:0002570	Steatorrhea	1/18	OMIM:212065
5373	PMM2	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:79318
5373	PMM2	HP:0003819	Death in childhood	1/20	OMIM:212065
5373	PMM2	HP:0000091	Abnormal renal tubule morphology	HP:0040283	ORPHA:79318
5373	PMM2	HP:0000093	Proteinuria	-	OMIM:212065
5373	PMM2	HP:0000093	Proteinuria	HP:0040283	ORPHA:79318
5373	PMM2	HP:0001397	Hepatic steatosis	-	OMIM:212065
5373	PMM2	HP:0001395	Hepatic fibrosis	4/4	OMIM:212065
5373	PMM2	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:79318
5373	PMM2	HP:0012050	Anasarca	HP:0040284	ORPHA:79318
5373	PMM2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:79318
5373	PMM2	HP:0001371	Flexion contracture	-	OMIM:212065
5373	PMM2	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:79318
5373	PMM2	HP:0001347	Hyperreflexia	1/3	OMIM:212065
5373	PMM2	HP:6000781	Reduced tissue phosphomannomutase activity	3/3	OMIM:212065
5373	PMM2	HP:0007552	Abnormal subcutaneous fat tissue distribution	HP:0040282	ORPHA:79318
5373	PMM2	HP:0007552	Abnormal subcutaneous fat tissue distribution	-	OMIM:212065
5373	PMM2	HP:0008872	Feeding difficulties in infancy	-	OMIM:212065
5373	PMM2	HP:0001324	Muscle weakness	20/20	OMIM:212065
5373	PMM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:212065
5373	PMM2	HP:0001337	Tremor	1/3	OMIM:212065
5373	PMM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
5373	PMM2	HP:0001310	Dysmetria	1/3	OMIM:212065
5373	PMM2	HP:0001305	Dandy-Walker malformation	HP:0040284	ORPHA:79318
5373	PMM2	HP:0001320	Cerebellar vermis hypoplasia	2/3	OMIM:212065
5373	PMM2	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:79318
5373	PMM2	HP:0001321	Cerebellar hypoplasia	18/20	OMIM:212065
5373	PMM2	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:79318
5373	PMM2	HP:0002619	Varicose veins	-	OMIM:153400
5373	PMM2	HP:0002625	Deep venous thrombosis	HP:0040284	ORPHA:79318
5373	PMM2	HP:0000175	Cleft palate	5/39	OMIM:153400
5373	PMM2	HP:0000154	Wide mouth	HP:0040282	ORPHA:79318
5373	PMM2	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:79318
5373	PMM2	HP:0000114	Proximal tubulopathy	-	OMIM:212065
5373	PMM2	HP:0000100	Nephrotic syndrome	-	OMIM:212065
5373	PMM2	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:79318
5373	PMM2	HP:0000107	Renal cyst	11/16	OMIM:212065
5373	PMM2	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:79318
5373	PMM2	HP:0002720	Decreased circulating IgA concentration	-	OMIM:212065
5373	PMM2	HP:0002014	Diarrhea	5/20	OMIM:212065
5373	PMM2	HP:0002013	Vomiting	4/20	OMIM:212065
5373	PMM2	HP:0002013	Vomiting	HP:0040282	ORPHA:79318
5373	PMM2	HP:0002080	Intention tremor	1/3	OMIM:212065
5373	PMM2	HP:0002098	Respiratory distress	HP:0040283	ORPHA:79318
5373	PMM2	HP:0008151	Prolonged prothrombin time	-	OMIM:212065
5373	PMM2	HP:0010463	Aplasia of the ovary	HP:0040283	ORPHA:79318
5373	PMM2	HP:0002197	Generalized-onset seizure	1/3	OMIM:212065
5373	PMM2	HP:0002198	Dilated fourth ventricle	2/3	OMIM:212065
5373	PMM2	HP:0002170	Intracranial hemorrhage	HP:0040284	ORPHA:79318
5373	PMM2	HP:0008209	Premature ovarian insufficiency	-	OMIM:212065
5373	PMM2	HP:0011858	Reduced factor IX activity	HP:0040283	ORPHA:79318
5373	PMM2	HP:0011842	Abnormal skeletal morphology	HP:0040283	ORPHA:79318
5373	PMM2	HP:0003593	Infantile onset	19/23	OMIM:212065
5373	PMM2	HP:0003577	Congenital onset	1/3	OMIM:212065
5373	PMM2	HP:0002240	Hepatomegaly	12/20	OMIM:212065
5373	PMM2	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
5373	PMM2	HP:0009743	Distichiasis	42/42	OMIM:153400
5373	PMM2	HP:0002280	Enlarged cisterna magna	HP:0040283	ORPHA:79318
5373	PMM2	HP:0002280	Enlarged cisterna magna	1/3	OMIM:212065
5373	PMM2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:79318
5373	PMM2	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:79318
5373	PMM2	HP:0020045	Esodeviation	2/3	OMIM:212065
5373	PMM2	HP:0001004	Lymphedema	HP:0040284	ORPHA:79318
5373	PMM2	HP:0001004	Lymphedema	-	OMIM:153400
5373	PMM2	HP:0003645	Prolonged partial thromboplastin time	-	OMIM:212065
5373	PMM2	HP:0100658	Cellulitis	2/6	OMIM:153400
5373	PMM2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:79318
5373	PMM2	HP:0003623	Neonatal onset	2/20	OMIM:212065
5373	PMM2	HP:0003642	Type I transferrin isoform profile	23/23	OMIM:212065
5373	PMM2	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:79318
5373	PMM2	HP:0000639	Nystagmus	-	OMIM:212065
5373	PMM2	HP:0001976	Reduced antithrombin III activity	HP:0040283	ORPHA:79318
5373	PMM2	HP:0001976	Reduced antithrombin III activity	-	OMIM:212065
5373	PMM2	HP:0000613	Photophobia	10/49	OMIM:153400
5373	PMM2	HP:0001945	Fever	HP:0040283	ORPHA:79318
5373	PMM2	HP:0001929	Reduced factor XI activity	HP:0040283	ORPHA:79318
5373	PMM2	HP:0001929	Reduced factor XI activity	-	OMIM:212065
5373	PMM2	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
5373	PMM2	HP:0000656	Ectropion	2/43	OMIM:153400
5373	PMM2	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:79318
5373	PMM2	HP:0004315	Decreased circulating IgG concentration	-	OMIM:212065
5373	PMM2	HP:0006955	Olivopontocerebellar hypoplasia	-	OMIM:212065
5373	PMM2	HP:0003073	Hypoalbuminemia	-	OMIM:212065
5373	PMM2	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:79318
5373	PMM2	HP:0003011	Abnormality of the musculature	-	OMIM:153400
5373	PMM2	HP:0030609	Photoreceptor layer loss on macular OCT	HP:0040283	ORPHA:79318
5373	PMM2	HP:0000750	Delayed speech and language development	2/3	OMIM:212065
5373	PMM2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:79318
5373	PMM2	HP:0011473	Villous atrophy	2/4	OMIM:212065
5373	PMM2	HP:0011463	Childhood onset	1/3	OMIM:212065
5373	PMM2	HP:0011443	Abnormality of coordination	HP:0040283	ORPHA:79318
5373	PMM2	HP:0009125	Lipodystrophy	HP:0040282	ORPHA:79318
5373	PMM2	HP:0000926	Platyspondyly	HP:0040284	ORPHA:79318
5373	PMM2	HP:0003186	Inverted nipples	HP:0040282	ORPHA:79318
5373	PMM2	HP:0003186	Inverted nipples	0/3	OMIM:212065
5373	PMM2	HP:0003146	Hypocholesterolemia	-	OMIM:212065
5373	PMM2	HP:0000855	Insulin resistance	HP:0040283	ORPHA:79318
5373	PMM2	HP:0000870	Increased circulating prolactin concentration	HP:0040283	ORPHA:79318
5373	PMM2	HP:0000845	Elevated circulating growth hormone concentration	HP:0040283	ORPHA:79318
5373	PMM2	HP:0000842	Hyperinsulinemia	HP:0040283	ORPHA:79318
5373	PMM2	HP:0012804	Corneal ulceration	-	OMIM:153400
5373	PMM2	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:212065
5373	PMM2	HP:0000821	Hypothyroidism	-	OMIM:212065
5373	PMM2	HP:0012882	Hyperplastic labia majora	HP:0040283	ORPHA:79318
5373	PMM2	HP:0040238	Impaired neutrophil chemotaxis	HP:0040284	ORPHA:79318
5373	PMM2	HP:0010310	Chylothorax	1/6	OMIM:153400
5373	PMM2	HP:0000969	Edema	2/20	OMIM:212065
5373	PMM2	HP:0000939	Osteoporosis	HP:0040282	ORPHA:79318
5373	PMM2	HP:0000938	Osteopenia	-	OMIM:212065
5373	PMM2	HP:0000938	Osteopenia	HP:0040282	ORPHA:79318
5373	PMM2	HP:0011675	Arrhythmia	-	OMIM:153400
5373	PMM2	HP:0000286	Epicanthus	HP:0040282	ORPHA:79318
5373	PMM2	HP:0000278	Retrognathia	HP:0040282	ORPHA:79318
5373	PMM2	HP:0031404	Impaired antigen-specific response	HP:0040284	ORPHA:79318
5373	PMM2	HP:0000276	Long face	HP:0040282	ORPHA:79318
5373	PMM2	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:79318
5373	PMM2	HP:0002808	Kyphosis	-	OMIM:212065
5373	PMM2	HP:0002808	Kyphosis	2/5	OMIM:153400
5373	PMM2	HP:0000252	Microcephaly	-	OMIM:212065
5373	PMM2	HP:0000219	Thin upper lip vermilion	-	OMIM:212065
5373	PMM2	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:79318
5373	PMM2	HP:0000218	High palate	HP:0040281	ORPHA:79318
5373	PMM2	HP:0001560	Abnormality of the amniotic fluid	-	OMIM:212065
5373	PMM2	HP:0001522	Death in infancy	4/20	OMIM:212065
5373	PMM2	HP:0000204	Cleft upper lip	-	OMIM:153400
5373	PMM2	HP:0001508	Failure to thrive	13/20	OMIM:212065
5373	PMM2	HP:0001508	Failure to thrive	HP:0040283	ORPHA:79318
5373	PMM2	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:79318
5373	PMM2	HP:0007874	Almond-shaped palpebral fissure	3/3	OMIM:212065
5373	PMM2	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:212065
5373	PMM2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:79318
5373	PMM2	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	HP:0040283	ORPHA:79318
5373	PMM2	HP:0001698	Pericardial effusion	HP:0040283	ORPHA:79318
5373	PMM2	HP:0001698	Pericardial effusion	-	OMIM:212065
5373	PMM2	HP:0000343	Long philtrum	HP:0040282	ORPHA:79318
5373	PMM2	HP:0001681	Angina pectoris	HP:0040284	ORPHA:79318
5373	PMM2	HP:0000347	Micrognathia	2/5	OMIM:153400
5373	PMM2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:79318
5373	PMM2	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
5373	PMM2	HP:0030146	Abnormal liver parenchyma morphology	HP:0040283	ORPHA:79318
5373	PMM2	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
5373	PMM2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:79318
5373	PMM2	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
5373	PMM2	HP:0001638	Cardiomyopathy	2/20	OMIM:212065
5373	PMM2	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:79318
5373	PMM2	HP:0000400	Macrotia	-	OMIM:212065
5373	PMM2	HP:0000400	Macrotia	HP:0040283	ORPHA:79318
5373	PMM2	HP:0001701	Pericarditis	HP:0040284	ORPHA:79318
5373	PMM2	HP:0001701	Pericarditis	5/20	OMIM:212065
5373	PMM2	HP:0005280	Depressed nasal bridge	-	OMIM:212065
5373	PMM2	HP:0000486	Strabismus	HP:0040281	ORPHA:79318
5373	PMM2	HP:0000476	Cystic hygroma	2/43	OMIM:153400
5373	PMM2	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
5373	PMM2	HP:0000463	Anteverted nares	HP:0040282	ORPHA:79318
5373	PMM2	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
5373	PMM2	HP:0001790	Nonimmune hydrops fetalis	-	OMIM:212065
5373	PMM2	HP:0012448	Delayed myelination	HP:0040282	ORPHA:79318
5373	PMM2	HP:0000465	Webbed neck	6/43	OMIM:153400
5373	PMM2	HP:0001763	Pes planus	HP:0040282	ORPHA:79318
5373	PMM2	HP:0000448	Prominent nose	HP:0040282	ORPHA:79318
5373	PMM2	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:79318
5373	PMM2	HP:0012509	Reduced thyroxin-binding globulin	HP:0040283	ORPHA:79318
5373	PMM2	HP:0000518	Cataract	HP:0040283	ORPHA:79318
5373	PMM2	HP:0000510	Rod-cone dystrophy	-	OMIM:212065
5373	PMM2	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:79318
5373	PMM2	HP:0000509	Conjunctivitis	-	OMIM:153400
5373	PMM2	HP:0000508	Ptosis	2/39	OMIM:153400
5373	PMM2	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:79318
5373	PMM2	HP:0001894	Thrombocytosis	-	OMIM:212065
5373	PMM2	HP:0011220	Prominent forehead	-	OMIM:212065
5373	PMM2	HP:0011220	Prominent forehead	HP:0040282	ORPHA:79318
5373	PMM2	HP:0000568	Microphthalmia	1/6	OMIM:153400
5373	PMM2	HP:0000565	Esotropia	-	OMIM:212065
5373	PMM2	HP:0000565	Esotropia	HP:0040282	ORPHA:79318
5373	PMM2	HP:0000545	Myopia	HP:0040283	ORPHA:79318
5375	PMP2	HP:0002460	Distal muscle weakness	1/1	OMIM:618279
5375	PMP2	HP:0007328	Impaired pain sensation	3/3	OMIM:618279
5375	PMP2	HP:0001288	Gait disturbance	-	OMIM:618279
5375	PMP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618279
5375	PMP2	HP:0003376	Steppage gait	-	OMIM:618279
5375	PMP2	HP:0003383	Onion bulb formation	4/4	OMIM:618279
5375	PMP2	HP:0003487	Babinski sign	0/3	OMIM:618279
5375	PMP2	HP:0003438	Absent Achilles reflex	2/3	OMIM:618279
5375	PMP2	HP:0033383	Decreased compound muscle action potential amplitude	1/1	OMIM:618279
5375	PMP2	HP:0003693	Distal amyotrophy	4/4	OMIM:618279
5375	PMP2	HP:0002359	Frequent falls	1/3	OMIM:618279
5375	PMP2	HP:0002378	Hand tremor	2/3	OMIM:618279
5375	PMP2	HP:0003677	Slowly progressive	-	OMIM:618279
5375	PMP2	HP:0003621	Juvenile onset	3/4	OMIM:618279
5375	PMP2	HP:0006844	Absent patellar reflexes	2/3	OMIM:618279
5375	PMP2	HP:0006886	Impaired distal vibration sensation	3/3	OMIM:618279
5375	PMP2	HP:0009053	Distal lower limb muscle weakness	3/3	OMIM:618279
5375	PMP2	HP:0011096	Peripheral demyelination	1/1	OMIM:618279
5375	PMP2	HP:0002936	Distal sensory impairment	1/1	OMIM:618279
5375	PMP2	HP:0001765	Hammertoe	1/1	OMIM:618279
5375	PMP2	HP:0001761	Pes cavus	4/4	OMIM:618279
5375	PMP2	HP:0025708	Early young adult onset	1/3	OMIM:618279
5375	PMP2	HP:0012548	Fatty replacement of skeletal muscle	3/3	OMIM:618279
5376	PMP22	HP:0001178	Ulnar claw	-	OMIM:118220
5376	PMP22	HP:0001178	Ulnar claw	-	OMIM:145900
5376	PMP22	HP:0001171	Split hand	-	OMIM:118300
5376	PMP22	HP:0001171	Split hand	-	OMIM:118220
5376	PMP22	HP:0001171	Split hand	HP:0040283	ORPHA:90658
5376	PMP22	HP:0001171	Split hand	-	OMIM:145900
5376	PMP22	HP:0002495	Impaired vibratory sensation	HP:0040282	ORPHA:3115
5376	PMP22	HP:0002460	Distal muscle weakness	1/1	OMIM:118300
5376	PMP22	HP:0002460	Distal muscle weakness	-	OMIM:180800
5376	PMP22	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:101081
5376	PMP22	HP:0002460	Distal muscle weakness	-	OMIM:118220
5376	PMP22	HP:0002460	Distal muscle weakness	-	OMIM:145900
5376	PMP22	HP:0007328	Impaired pain sensation	HP:0040282	ORPHA:3115
5376	PMP22	HP:0009916	Anisocoria	HP:0040283	ORPHA:90658
5376	PMP22	HP:0010871	Sensory ataxia	1/1	OMIM:145900
5376	PMP22	HP:0010871	Sensory ataxia	HP:0040282	ORPHA:101081
5376	PMP22	HP:0003738	Exercise-induced myalgia	HP:0040283	ORPHA:640
5376	PMP22	HP:0003704	Scapuloperoneal weakness	HP:0040283	ORPHA:640
5376	PMP22	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:101081
5376	PMP22	HP:0003701	Proximal muscle weakness	1/1	OMIM:145900
5376	PMP22	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:98916
5376	PMP22	HP:0001270	Motor delay	-	OMIM:180800
5376	PMP22	HP:0001270	Motor delay	1/1	OMIM:145900
5376	PMP22	HP:0001288	Gait disturbance	HP:0040282	ORPHA:90658
5376	PMP22	HP:0001288	Gait disturbance	HP:0040282	ORPHA:101081
5376	PMP22	HP:0001288	Gait disturbance	1/1	OMIM:118300
5376	PMP22	HP:0001288	Gait disturbance	HP:0040282	ORPHA:3115
5376	PMP22	HP:0001284	Areflexia	-	OMIM:118300
5376	PMP22	HP:0001284	Areflexia	-	OMIM:180800
5376	PMP22	HP:0001284	Areflexia	HP:0040282	ORPHA:3115
5376	PMP22	HP:0001284	Areflexia	-	OMIM:118220
5376	PMP22	HP:0001284	Areflexia	1/1	OMIM:145900
5376	PMP22	HP:0001252	Hypotonia	-	OMIM:145900
5376	PMP22	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:101081
5376	PMP22	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:640
5376	PMP22	HP:0001265	Hyporeflexia	-	OMIM:118300
5376	PMP22	HP:0001265	Hyporeflexia	-	OMIM:180800
5376	PMP22	HP:0001265	Hyporeflexia	-	OMIM:118220
5376	PMP22	HP:0001265	Hyporeflexia	-	OMIM:145900
5376	PMP22	HP:0001265	Hyporeflexia	1/1	OMIM:162500
5376	PMP22	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:98916
5376	PMP22	HP:0001263	Global developmental delay	HP:0040283	ORPHA:90658
5376	PMP22	HP:0007351	Upper limb postural tremor	-	OMIM:180800
5376	PMP22	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:3115
5376	PMP22	HP:0002540	Inability to walk	HP:0040283	ORPHA:90658
5376	PMP22	HP:0002522	Areflexia of lower limbs	HP:0040282	ORPHA:90658
5376	PMP22	HP:0003828	Variable expressivity	-	OMIM:118220
5376	PMP22	HP:0033660	Hand paresthesia	1/1	OMIM:162500
5376	PMP22	HP:0031006	Acroparesthesia	HP:0040282	ORPHA:90658
5376	PMP22	HP:0012074	Tonic pupil	HP:0040282	ORPHA:90658
5376	PMP22	HP:0031162	Impaired oropharyngeal swallow response	HP:0040282	ORPHA:98916
5376	PMP22	HP:0001324	Muscle weakness	HP:0040282	ORPHA:640
5376	PMP22	HP:0001324	Muscle weakness	-	OMIM:162500
5376	PMP22	HP:0000007	Autosomal recessive inheritance	-	OMIM:145900
5376	PMP22	HP:0001337	Tremor	1/1	OMIM:118300
5376	PMP22	HP:0000006	Autosomal dominant inheritance	-	OMIM:180800
5376	PMP22	HP:0000006	Autosomal dominant inheritance	-	OMIM:118220
5376	PMP22	HP:0000006	Autosomal dominant inheritance	-	OMIM:139393
5376	PMP22	HP:0000006	Autosomal dominant inheritance	-	OMIM:162500
5376	PMP22	HP:0000006	Autosomal dominant inheritance	-	OMIM:118300
5376	PMP22	HP:0000006	Autosomal dominant inheritance	-	OMIM:145900
5376	PMP22	HP:0033748	Hypoesthesia	1/1	OMIM:162500
5376	PMP22	HP:0001308	Tongue fasciculations	1/1	OMIM:145900
5376	PMP22	HP:0002650	Scoliosis	HP:0040282	ORPHA:640
5376	PMP22	HP:0002650	Scoliosis	HP:0040282	ORPHA:3115
5376	PMP22	HP:0002650	Scoliosis	1/1	OMIM:145900
5376	PMP22	HP:0002600	Hyporeflexia of lower limbs	HP:0040282	ORPHA:90658
5376	PMP22	HP:0008981	Calf muscle hypertrophy	HP:0040283	ORPHA:101081
5376	PMP22	HP:0008962	Calf muscle hypoplasia	HP:0040282	ORPHA:90658
5376	PMP22	HP:0008954	Intrinsic hand muscle atrophy	HP:0040283	ORPHA:3115
5376	PMP22	HP:0008944	Distal lower limb amyotrophy	HP:0040282	ORPHA:90658
5376	PMP22	HP:0002751	Kyphoscoliosis	-	OMIM:180800
5376	PMP22	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:3115
5376	PMP22	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:101081
5376	PMP22	HP:0002751	Kyphoscoliosis	-	OMIM:118220
5376	PMP22	HP:0002751	Kyphoscoliosis	-	OMIM:145900
5376	PMP22	HP:0002715	Abnormality of the immune system	-	OMIM:180800
5376	PMP22	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:640
5376	PMP22	HP:0002066	Gait ataxia	-	OMIM:180800
5376	PMP22	HP:0002066	Gait ataxia	HP:0040282	ORPHA:3115
5376	PMP22	HP:0002066	Gait ataxia	-	ORPHA:98916
5376	PMP22	HP:0003394	Muscle spasm	HP:0040283	ORPHA:640
5376	PMP22	HP:0003393	Thenar muscle atrophy	1/1	OMIM:118300
5376	PMP22	HP:0002070	Limb ataxia	HP:0040282	ORPHA:3115
5376	PMP22	HP:0003376	Steppage gait	-	OMIM:118300
5376	PMP22	HP:0003376	Steppage gait	-	OMIM:118220
5376	PMP22	HP:0003376	Steppage gait	HP:0040283	ORPHA:90658
5376	PMP22	HP:0003376	Steppage gait	-	OMIM:145900
5376	PMP22	HP:0003383	Onion bulb formation	-	OMIM:118220
5376	PMP22	HP:0003383	Onion bulb formation	-	OMIM:180800
5376	PMP22	HP:0003383	Onion bulb formation	HP:0040283	ORPHA:98916
5376	PMP22	HP:0003383	Onion bulb formation	1/1	OMIM:145900
5376	PMP22	HP:0003382	Hypertrophic nerve changes	-	OMIM:118220
5376	PMP22	HP:0003382	Hypertrophic nerve changes	-	OMIM:145900
5376	PMP22	HP:0003382	Hypertrophic nerve changes	-	OMIM:180800
5376	PMP22	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:118220
5376	PMP22	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:180800
5376	PMP22	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:145900
5376	PMP22	HP:0008124	Talipes calcaneovarus	HP:0040283	ORPHA:90658
5376	PMP22	HP:0008110	Equinovarus deformity	HP:0040283	ORPHA:90658
5376	PMP22	HP:0011727	Peroneal muscle weakness	HP:0040282	ORPHA:90658
5376	PMP22	HP:0009473	Joint contracture of the hand	HP:0040283	ORPHA:90658
5376	PMP22	HP:0003474	Somatic sensory dysfunction	HP:0040282	ORPHA:3115
5376	PMP22	HP:0002141	Gait imbalance	HP:0040283	ORPHA:90658
5376	PMP22	HP:0002141	Gait imbalance	HP:0040283	ORPHA:101081
5376	PMP22	HP:0003487	Babinski sign	HP:0040283	ORPHA:3115
5376	PMP22	HP:0003481	Segmental peripheral demyelination/remyelination	-	OMIM:162500
5376	PMP22	HP:0003481	Segmental peripheral demyelination/remyelination	-	OMIM:118220
5376	PMP22	HP:0003481	Segmental peripheral demyelination/remyelination	1/1	OMIM:145900
5376	PMP22	HP:0003481	Segmental peripheral demyelination/remyelination	-	OMIM:180800
5376	PMP22	HP:0003448	Decreased sensory nerve conduction velocity	1/1	OMIM:145900
5376	PMP22	HP:0003448	Decreased sensory nerve conduction velocity	HP:0040282	ORPHA:101081
5376	PMP22	HP:0003449	Cold-induced muscle cramps	-	OMIM:118220
5376	PMP22	HP:0003447	Axonal loss	1/1	OMIM:118300
5376	PMP22	HP:0002136	Broad-based gait	1/1	OMIM:145900
5376	PMP22	HP:0003431	Decreased motor nerve conduction velocity	2/2	OMIM:162500
5376	PMP22	HP:0003431	Decreased motor nerve conduction velocity	1/1	OMIM:118300
5376	PMP22	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:118220
5376	PMP22	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:180800
5376	PMP22	HP:0003431	Decreased motor nerve conduction velocity	HP:0040281	ORPHA:640
5376	PMP22	HP:0003431	Decreased motor nerve conduction velocity	1/1	OMIM:145900
5376	PMP22	HP:0003431	Decreased motor nerve conduction velocity	HP:0040282	ORPHA:3115
5376	PMP22	HP:0003431	Decreased motor nerve conduction velocity	HP:0040282	ORPHA:101081
5376	PMP22	HP:0003427	Thenar muscle weakness	1/1	OMIM:118300
5376	PMP22	HP:0003445	EMG: neuropathic changes	HP:0040282	ORPHA:98916
5376	PMP22	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:90658
5376	PMP22	HP:0002174	Postural tremor	HP:0040282	ORPHA:3115
5376	PMP22	HP:0002172	Postural instability	HP:0040282	ORPHA:90658
5376	PMP22	HP:0003401	Paresthesia	HP:0040283	ORPHA:101081
5376	PMP22	HP:0003401	Paresthesia	HP:0040282	ORPHA:640
5376	PMP22	HP:0003593	Infantile onset	1/1	OMIM:145900
5376	PMP22	HP:0003587	Insidious onset	-	OMIM:118220
5376	PMP22	HP:0200101	Decreased/absent ankle reflexes	HP:0040282	ORPHA:640
5376	PMP22	HP:0003693	Distal amyotrophy	1/1	OMIM:118300
5376	PMP22	HP:0003693	Distal amyotrophy	-	OMIM:180800
5376	PMP22	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:3115
5376	PMP22	HP:0003693	Distal amyotrophy	-	OMIM:118220
5376	PMP22	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:640
5376	PMP22	HP:0003693	Distal amyotrophy	-	OMIM:145900
5376	PMP22	HP:0003690	Limb muscle weakness	1/1	OMIM:118300
5376	PMP22	HP:0003690	Limb muscle weakness	-	OMIM:118220
5376	PMP22	HP:0002359	Frequent falls	HP:0040283	ORPHA:3115
5376	PMP22	HP:0002345	Action tremor	-	OMIM:180800
5376	PMP22	HP:0003677	Slowly progressive	-	OMIM:180800
5376	PMP22	HP:0003677	Slowly progressive	-	OMIM:118220
5376	PMP22	HP:0002317	Unsteady gait	HP:0040282	ORPHA:3115
5376	PMP22	HP:0002317	Unsteady gait	HP:0040282	ORPHA:98916
5376	PMP22	HP:0010830	Impaired tactile sensation	HP:0040282	ORPHA:90658
5376	PMP22	HP:0010833	Spontaneous pain sensation	HP:0040283	ORPHA:101081
5376	PMP22	HP:0010832	Abnormality of pain sensation	HP:0040282	ORPHA:90658
5376	PMP22	HP:0010829	Impaired temperature sensation	HP:0040282	ORPHA:90658
5376	PMP22	HP:0010829	Impaired temperature sensation	HP:0040282	ORPHA:3115
5376	PMP22	HP:0009830	Peripheral neuropathy	-	OMIM:118220
5376	PMP22	HP:0009830	Peripheral neuropathy	-	OMIM:162500
5376	PMP22	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:640
5376	PMP22	HP:0032121	Froment sign	1/1	OMIM:162500
5376	PMP22	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:3115
5376	PMP22	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:640
5376	PMP22	HP:0007131	Acute demyelinating polyneuropathy	-	OMIM:139393
5376	PMP22	HP:0007131	Acute demyelinating polyneuropathy	HP:0040280	ORPHA:98916
5376	PMP22	HP:0007131	Acute demyelinating polyneuropathy	HP:0040282	ORPHA:3115
5376	PMP22	HP:0007131	Acute demyelinating polyneuropathy	HP:0040283	ORPHA:101081
5376	PMP22	HP:0007108	Demyelinating peripheral neuropathy	HP:0040281	ORPHA:90658
5376	PMP22	HP:0007108	Demyelinating peripheral neuropathy	HP:0040282	ORPHA:101081
5376	PMP22	HP:0002312	Clumsiness	HP:0040282	ORPHA:3115
5376	PMP22	HP:0002307	Drooling	HP:0040282	ORPHA:98916
5376	PMP22	HP:0003621	Juvenile onset	-	OMIM:180800
5376	PMP22	HP:0003621	Juvenile onset	-	OMIM:118220
5376	PMP22	HP:0003621	Juvenile onset	1/1	OMIM:162500
5376	PMP22	HP:0003621	Juvenile onset	1/1	OMIM:118300
5376	PMP22	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:640
5376	PMP22	HP:0006801	Hyperactive deep tendon reflexes	HP:0040284	ORPHA:101081
5376	PMP22	HP:0006886	Impaired distal vibration sensation	1/1	OMIM:145900
5376	PMP22	HP:0000639	Nystagmus	HP:0040282	ORPHA:3115
5376	PMP22	HP:0000639	Nystagmus	HP:0040283	OMIM:145900
5376	PMP22	HP:0000615	Abnormal pupil morphology	HP:0040282	ORPHA:90658
5376	PMP22	HP:0001954	Recurrent fever	HP:0040282	ORPHA:98916
5376	PMP22	HP:0009053	Distal lower limb muscle weakness	HP:0040281	ORPHA:90658
5376	PMP22	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:98916
5376	PMP22	HP:0009053	Distal lower limb muscle weakness	1/1	OMIM:145900
5376	PMP22	HP:0009049	Peroneal muscle atrophy	HP:0040282	ORPHA:90658
5376	PMP22	HP:0009027	Foot dorsiflexor weakness	1/1	OMIM:118300
5376	PMP22	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:90658
5376	PMP22	HP:0009027	Foot dorsiflexor weakness	-	OMIM:118220
5376	PMP22	HP:0009027	Foot dorsiflexor weakness	-	OMIM:145900
5376	PMP22	HP:0004336	Myelin outfoldings	-	OMIM:118220
5376	PMP22	HP:0012735	Cough	HP:0040283	ORPHA:90658
5376	PMP22	HP:0000762	Decreased nerve conduction velocity	HP:0040281	ORPHA:90658
5376	PMP22	HP:0011476	Profound sensorineural hearing impairment	HP:0040283	ORPHA:90658
5376	PMP22	HP:0011463	Childhood onset	-	OMIM:118300
5376	PMP22	HP:0011462	Young adult onset	1/1	OMIM:162500
5376	PMP22	HP:0009130	Hand muscle atrophy	HP:0040282	ORPHA:90658
5376	PMP22	HP:0009113	Diaphragmatic weakness	HP:0040283	ORPHA:101081
5376	PMP22	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:101081
5376	PMP22	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:3115
5376	PMP22	HP:0030834	Shoulder pain	HP:0040283	ORPHA:101081
5376	PMP22	HP:0002857	Genu valgum	HP:0040283	ORPHA:3115
5376	PMP22	HP:0031374	Ankle weakness	1/1	OMIM:118300
5376	PMP22	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040283	ORPHA:3115
5376	PMP22	HP:0011096	Peripheral demyelination	1/1	OMIM:145900
5376	PMP22	HP:0012391	Hyporeflexia of upper limbs	HP:0040282	ORPHA:90658
5376	PMP22	HP:0001608	Abnormality of the voice	HP:0040283	ORPHA:640
5376	PMP22	HP:0002936	Distal sensory impairment	1/1	OMIM:118300
5376	PMP22	HP:0002936	Distal sensory impairment	-	OMIM:180800
5376	PMP22	HP:0002936	Distal sensory impairment	HP:0040281	ORPHA:90658
5376	PMP22	HP:0002936	Distal sensory impairment	HP:0040282	ORPHA:101081
5376	PMP22	HP:0002936	Distal sensory impairment	-	OMIM:118220
5376	PMP22	HP:0002936	Distal sensory impairment	-	OMIM:145900
5376	PMP22	HP:0001605	Vocal cord paralysis	-	OMIM:162500
5376	PMP22	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:640
5376	PMP22	HP:0002922	Increased CSF protein concentration	-	OMIM:145900
5376	PMP22	HP:0000365	Hearing impairment	-	OMIM:118220
5376	PMP22	HP:0000360	Tinnitus	HP:0040283	ORPHA:90658
5376	PMP22	HP:0030175	Myelin tomacula	1/1	OMIM:145900
5376	PMP22	HP:0005335	Sleepy facial expression	HP:0040282	ORPHA:98916
5376	PMP22	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:90658
5376	PMP22	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:640
5376	PMP22	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:118300
5376	PMP22	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:90658
5376	PMP22	HP:0030237	Hand muscle weakness	1/1	OMIM:162500
5376	PMP22	HP:0030237	Hand muscle weakness	HP:0040282	ORPHA:90658
5376	PMP22	HP:0001763	Pes planus	1/1	OMIM:145900
5376	PMP22	HP:0001765	Hammertoe	-	OMIM:118300
5376	PMP22	HP:0001765	Hammertoe	-	OMIM:118220
5376	PMP22	HP:0001765	Hammertoe	-	OMIM:180800
5376	PMP22	HP:0001765	Hammertoe	HP:0040283	ORPHA:90658
5376	PMP22	HP:0001765	Hammertoe	-	OMIM:145900
5376	PMP22	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:3115
5376	PMP22	HP:0001761	Pes cavus	HP:0040282	ORPHA:90658
5376	PMP22	HP:0001761	Pes cavus	HP:0040282	ORPHA:101081
5376	PMP22	HP:0001761	Pes cavus	HP:0040283	ORPHA:640
5376	PMP22	HP:0001761	Pes cavus	-	OMIM:118300
5376	PMP22	HP:0001761	Pes cavus	-	OMIM:180800
5376	PMP22	HP:0001761	Pes cavus	HP:0040282	ORPHA:3115
5376	PMP22	HP:0001761	Pes cavus	-	OMIM:118220
5376	PMP22	HP:0001761	Pes cavus	-	OMIM:145900
5376	PMP22	HP:0001884	Talipes calcaneovalgus	-	OMIM:118300
5376	PMP22	HP:0012534	Dysesthesia	HP:0040282	ORPHA:98916
5378	PMS1	HP:0001123	Visual field defect	HP:0040283	ORPHA:144
5378	PMS1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:144
5378	PMS1	HP:0001276	Hypertonia	HP:0040282	ORPHA:144
5378	PMS1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:144
5378	PMS1	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:144
5378	PMS1	HP:0001250	Seizure	HP:0040282	ORPHA:144
5378	PMS1	HP:0001252	Hypotonia	HP:0040282	ORPHA:144
5378	PMS1	HP:0001260	Dysarthria	HP:0040283	ORPHA:144
5378	PMS1	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:144
5378	PMS1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:144
5378	PMS1	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:144
5378	PMS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:120435
5378	PMS1	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:144
5378	PMS1	HP:0012118	Laryngeal carcinoma	HP:0040283	ORPHA:144
5378	PMS1	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:144
5378	PMS1	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:144
5378	PMS1	HP:0002024	Malabsorption	HP:0040281	ORPHA:144
5378	PMS1	HP:0002019	Constipation	HP:0040281	ORPHA:144
5378	PMS1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:144
5378	PMS1	HP:0002027	Abdominal pain	HP:0040281	ORPHA:144
5378	PMS1	HP:0002076	Migraine	HP:0040282	ORPHA:144
5378	PMS1	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:144
5378	PMS1	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:144
5378	PMS1	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:144
5378	PMS1	HP:0010526	Dysgraphia	HP:0040283	ORPHA:144
5378	PMS1	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:144
5378	PMS1	HP:0003401	Paresthesia	HP:0040283	ORPHA:144
5378	PMS1	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:144
5378	PMS1	HP:0009720	Adenoma sebaceum	HP:0040281	ORPHA:144
5378	PMS1	HP:0009726	Renal neoplasm	HP:0040283	ORPHA:144
5378	PMS1	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:144
5378	PMS1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:144
5378	PMS1	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:144
5378	PMS1	HP:0002376	Developmental regression	HP:0040283	ORPHA:144
5378	PMS1	HP:0002354	Memory impairment	HP:0040283	ORPHA:144
5378	PMS1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:144
5378	PMS1	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:144
5378	PMS1	HP:0100684	Salivary gland neoplasm	HP:0040283	ORPHA:144
5378	PMS1	HP:0100615	Ovarian neoplasm	HP:0040283	ORPHA:144
5378	PMS1	HP:0100613	Death in early adulthood	HP:0040282	ORPHA:144
5378	PMS1	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:144
5378	PMS1	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:144
5378	PMS1	HP:0003003	Colon cancer	-	OMIM:120435
5378	PMS1	HP:0003003	Colon cancer	HP:0040282	ORPHA:144
5378	PMS1	HP:0004377	Hematological neoplasm	HP:0040283	ORPHA:144
5378	PMS1	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:144
5378	PMS1	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:144
5378	PMS1	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:144
5378	PMS1	HP:0000738	Hallucinations	HP:0040283	ORPHA:144
5378	PMS1	HP:0000737	Irritability	HP:0040282	ORPHA:144
5378	PMS1	HP:0000739	Anxiety	HP:0040282	ORPHA:144
5378	PMS1	HP:0000716	Depression	HP:0040282	ORPHA:144
5378	PMS1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:144
5378	PMS1	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:144
5378	PMS1	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:144
5378	PMS1	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:144
5378	PMS1	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:144
5378	PMS1	HP:0001522	Death in infancy	HP:0040282	ORPHA:144
5378	PMS1	HP:0012378	Fatigue	HP:0040281	ORPHA:144
5378	PMS1	HP:0006753	Neoplasm of the stomach	HP:0040282	ORPHA:144
5378	PMS1	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:144
5378	PMS1	HP:0006758	Malignant genitourinary tract tumor	HP:0040283	ORPHA:144
5378	PMS1	HP:0001824	Weight loss	HP:0040281	ORPHA:144
5378	PMS1	HP:0000505	Visual impairment	HP:0040283	ORPHA:144
5393	EXOSC9	HP:0001181	Adducted thumb	1/3	OMIM:618065
5393	EXOSC9	HP:0025116	Fetal distress	1/3	OMIM:618065
5393	EXOSC9	HP:0002421	Poor head control	2/3	OMIM:618065
5393	EXOSC9	HP:0003700	Generalized amyotrophy	1/3	OMIM:618065
5393	EXOSC9	HP:0001290	Generalized hypotonia	3/3	OMIM:618065
5393	EXOSC9	HP:0001272	Cerebellar atrophy	1/3	OMIM:618065
5393	EXOSC9	HP:0001270	Motor delay	HP:0040281	ORPHA:2254
5393	EXOSC9	HP:0001250	Seizure	1/3	OMIM:618065
5393	EXOSC9	HP:0001250	Seizure	HP:0040283	ORPHA:2254
5393	EXOSC9	HP:0001252	Hypotonia	HP:0040281	ORPHA:2254
5393	EXOSC9	HP:0001251	Ataxia	HP:0040284	ORPHA:2254
5393	EXOSC9	HP:0001265	Hyporeflexia	-	OMIM:618065
5393	EXOSC9	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:2254
5393	EXOSC9	HP:0001263	Global developmental delay	1/1	OMIM:618065
5393	EXOSC9	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2254
5393	EXOSC9	HP:0001257	Spasticity	1/3	OMIM:618065
5393	EXOSC9	HP:0001257	Spasticity	HP:0040283	ORPHA:2254
5393	EXOSC9	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:2254
5393	EXOSC9	HP:0001371	Flexion contracture	-	OMIM:618065
5393	EXOSC9	HP:0001348	Brisk reflexes	1/3	OMIM:618065
5393	EXOSC9	HP:0001347	Hyperreflexia	-	OMIM:618065
5393	EXOSC9	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2254
5393	EXOSC9	HP:0033725	Thin corpus callosum	HP:0040283	ORPHA:2254
5393	EXOSC9	HP:0001324	Muscle weakness	1/3	OMIM:618065
5393	EXOSC9	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2254
5393	EXOSC9	HP:0000007	Autosomal recessive inheritance	-	OMIM:618065
5393	EXOSC9	HP:0001308	Tongue fasciculations	1/3	OMIM:618065
5393	EXOSC9	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:2254
5393	EXOSC9	HP:0008936	Axial hypotonia	2/3	OMIM:618065
5393	EXOSC9	HP:0012110	Hypoplasia of the pons	HP:0040282	ORPHA:2254
5393	EXOSC9	HP:0003324	Generalized muscle weakness	2/3	OMIM:618065
5393	EXOSC9	HP:0002093	Respiratory insufficiency	-	OMIM:618065
5393	EXOSC9	HP:0002059	Cerebral atrophy	-	OMIM:618065
5393	EXOSC9	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:2254
5393	EXOSC9	HP:0002120	Cerebral cortical atrophy	1/3	OMIM:618065
5393	EXOSC9	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:2254
5393	EXOSC9	HP:0003577	Congenital onset	2/3	OMIM:618065
5393	EXOSC9	HP:0004886	Congenital laryngeal stridor	HP:0040283	ORPHA:2254
5393	EXOSC9	HP:0002205	Recurrent respiratory infections	1/3	OMIM:618065
5393	EXOSC9	HP:0200136	Oral-pharyngeal dysphagia	-	OMIM:618065
5393	EXOSC9	HP:0007002	Motor axonal neuropathy	1/3	OMIM:618065
5393	EXOSC9	HP:0011968	Feeding difficulties	-	OMIM:618065
5393	EXOSC9	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2254
5393	EXOSC9	HP:0002380	Fasciculations	1/3	OMIM:618065
5393	EXOSC9	HP:0002398	Degeneration of anterior horn cells	HP:0040281	ORPHA:2254
5393	EXOSC9	HP:0003676	Progressive	-	OMIM:618065
5393	EXOSC9	HP:0002350	Cerebellar cyst	HP:0040283	ORPHA:2254
5393	EXOSC9	HP:0000640	Gaze-evoked nystagmus	1/3	OMIM:618065
5393	EXOSC9	HP:0000639	Nystagmus	HP:0040282	ORPHA:2254
5393	EXOSC9	HP:0000648	Optic atrophy	HP:0040282	ORPHA:2254
5393	EXOSC9	HP:0001999	Abnormal facial shape	-	OMIM:618065
5393	EXOSC9	HP:0000666	Horizontal nystagmus	1/3	OMIM:618065
5393	EXOSC9	HP:0006934	Congenital nystagmus	1/3	OMIM:618065
5393	EXOSC9	HP:0011461	Fetal onset	1/3	OMIM:618065
5393	EXOSC9	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:2254
5393	EXOSC9	HP:0000286	Epicanthus	-	OMIM:618065
5393	EXOSC9	HP:0002828	Multiple joint contractures	1/3	OMIM:618065
5393	EXOSC9	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	ORPHA:2254
5393	EXOSC9	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:2254
5393	EXOSC9	HP:0000252	Microcephaly	1/3	OMIM:618065
5393	EXOSC9	HP:0002878	Respiratory failure	HP:0040281	ORPHA:2254
5393	EXOSC9	HP:0000218	High palate	2/3	OMIM:618065
5393	EXOSC9	HP:0001562	Oligohydramnios	-	OMIM:618065
5393	EXOSC9	HP:0001558	Decreased fetal movement	1/3	OMIM:618065
5393	EXOSC9	HP:0001508	Failure to thrive	1/3	OMIM:618065
5393	EXOSC9	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2254
5393	EXOSC9	HP:0001511	Intrauterine growth retardation	-	OMIM:618065
5393	EXOSC9	HP:0012389	Appendicular hypotonia	1/3	OMIM:618065
5393	EXOSC9	HP:0001612	Weak cry	3/3	OMIM:618065
5393	EXOSC9	HP:0000369	Low-set ears	-	OMIM:618065
5393	EXOSC9	HP:0000316	Hypertelorism	-	OMIM:618065
5393	EXOSC9	HP:0000486	Strabismus	HP:0040283	ORPHA:2254
5393	EXOSC9	HP:0000470	Short neck	-	OMIM:618065
5393	EXOSC9	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:2254
5393	EXOSC9	HP:0000565	Esotropia	1/3	OMIM:618065
5393	EXOSC9	HP:0000565	Esotropia	HP:0040284	ORPHA:2254
5395	PMS2	HP:0001123	Visual field defect	HP:0040283	ORPHA:144
5395	PMS2	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:144
5395	PMS2	HP:0001276	Hypertonia	HP:0040282	ORPHA:144
5395	PMS2	HP:0001274	Agenesis of corpus callosum	3/3	OMIM:619101
5395	PMS2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:144
5395	PMS2	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:144
5395	PMS2	HP:0001250	Seizure	HP:0040282	ORPHA:144
5395	PMS2	HP:0001252	Hypotonia	HP:0040282	ORPHA:144
5395	PMS2	HP:0001260	Dysarthria	HP:0040283	ORPHA:144
5395	PMS2	HP:0002576	Intussusception	HP:0040283	OMIM:174900
5395	PMS2	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
5395	PMS2	HP:0001217	Clubbing	HP:0040283	OMIM:174900
5395	PMS2	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:144
5395	PMS2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:144
5395	PMS2	HP:0007565	Multiple cafe-au-lait spots	-	OMIM:619101
5395	PMS2	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:144
5395	PMS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619101
5395	PMS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
5395	PMS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
5395	PMS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614337
5395	PMS2	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:144
5395	PMS2	HP:0012174	Glioblastoma multiforme	-	OMIM:619101
5395	PMS2	HP:0012118	Laryngeal carcinoma	HP:0040283	ORPHA:144
5395	PMS2	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:144
5395	PMS2	HP:0012114	Endometrial carcinoma	-	OMIM:614337
5395	PMS2	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:144
5395	PMS2	HP:0002024	Malabsorption	HP:0040281	ORPHA:144
5395	PMS2	HP:0002019	Constipation	HP:0040281	ORPHA:144
5395	PMS2	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:144
5395	PMS2	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
5395	PMS2	HP:0002027	Abdominal pain	HP:0040281	ORPHA:144
5395	PMS2	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
5395	PMS2	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
5395	PMS2	HP:0002076	Migraine	HP:0040282	ORPHA:144
5395	PMS2	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:144
5395	PMS2	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:144
5395	PMS2	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:144
5395	PMS2	HP:0010526	Dysgraphia	HP:0040283	ORPHA:144
5395	PMS2	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:144
5395	PMS2	HP:0003401	Paresthesia	HP:0040283	ORPHA:144
5395	PMS2	HP:0009592	Astrocytoma	1/3	OMIM:619101
5395	PMS2	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:144
5395	PMS2	HP:0009720	Adenoma sebaceum	HP:0040281	ORPHA:144
5395	PMS2	HP:0009726	Renal neoplasm	HP:0040283	ORPHA:144
5395	PMS2	HP:0002282	Gray matter heterotopia	2/3	OMIM:619101
5395	PMS2	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:144
5395	PMS2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:144
5395	PMS2	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:144
5395	PMS2	HP:0002376	Developmental regression	HP:0040283	ORPHA:144
5395	PMS2	HP:0002354	Memory impairment	HP:0040283	ORPHA:144
5395	PMS2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:144
5395	PMS2	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:144
5395	PMS2	HP:0100684	Salivary gland neoplasm	HP:0040283	ORPHA:144
5395	PMS2	HP:0100615	Ovarian neoplasm	HP:0040283	ORPHA:144
5395	PMS2	HP:0100615	Ovarian neoplasm	-	OMIM:614337
5395	PMS2	HP:0100613	Death in early adulthood	HP:0040282	ORPHA:144
5395	PMS2	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:144
5395	PMS2	HP:0001903	Anemia	HP:0040282	OMIM:174900
5395	PMS2	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:144
5395	PMS2	HP:0003003	Colon cancer	20%	OMIM:174900
5395	PMS2	HP:0003003	Colon cancer	5/12	OMIM:608456
5395	PMS2	HP:0003003	Colon cancer	HP:0040282	ORPHA:144
5395	PMS2	HP:0003003	Colon cancer	-	OMIM:619101
5395	PMS2	HP:0003073	Hypoalbuminemia	-	OMIM:174900
5395	PMS2	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
5395	PMS2	HP:0004377	Hematological neoplasm	HP:0040283	ORPHA:144
5395	PMS2	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:144
5395	PMS2	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:144
5395	PMS2	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:144
5395	PMS2	HP:0000738	Hallucinations	HP:0040283	ORPHA:144
5395	PMS2	HP:0000737	Irritability	HP:0040282	ORPHA:144
5395	PMS2	HP:0000739	Anxiety	HP:0040282	ORPHA:144
5395	PMS2	HP:0000716	Depression	HP:0040282	ORPHA:144
5395	PMS2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:144
5395	PMS2	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:144
5395	PMS2	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:144
5395	PMS2	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:144
5395	PMS2	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:144
5395	PMS2	HP:0001522	Death in infancy	HP:0040282	ORPHA:144
5395	PMS2	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
5395	PMS2	HP:0012378	Fatigue	HP:0040281	ORPHA:144
5395	PMS2	HP:0005227	Adenomatous colonic polyposis	-	OMIM:619101
5395	PMS2	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
5395	PMS2	HP:0002900	Hypokalemia	-	OMIM:174900
5395	PMS2	HP:0006753	Neoplasm of the stomach	HP:0040282	ORPHA:144
5395	PMS2	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
5395	PMS2	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:144
5395	PMS2	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:614337
5395	PMS2	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
5395	PMS2	HP:0006758	Malignant genitourinary tract tumor	HP:0040283	ORPHA:144
5395	PMS2	HP:0001824	Weight loss	HP:0040281	ORPHA:144
5395	PMS2	HP:0000505	Visual impairment	HP:0040283	ORPHA:144
5395	PMS2	HP:0012539	Non-Hodgkin lymphoma	-	OMIM:619101
5396	PRRX1	HP:0009939	Mandibular aplasia	3/3	OMIM:202650
5396	PRRX1	HP:0009939	Mandibular aplasia	HP:0040281	ORPHA:990
5396	PRRX1	HP:0009914	Cyclopia	HP:0040281	ORPHA:990
5396	PRRX1	HP:0009924	Aplasia/Hypoplasia involving the nose	HP:0040281	ORPHA:990
5396	PRRX1	HP:0001291	Abnormal cranial nerve morphology	HP:0040281	ORPHA:990
5396	PRRX1	HP:0001274	Agenesis of corpus callosum	-	OMIM:202650
5396	PRRX1	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:990
5396	PRRX1	HP:0008749	Laryngeal hypoplasia	1/1	OMIM:202650
5396	PRRX1	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:990
5396	PRRX1	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:990
5396	PRRX1	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:990
5396	PRRX1	HP:0001360	Holoprosencephaly	HP:0040281	ORPHA:990
5396	PRRX1	HP:0001360	Holoprosencephaly	-	OMIM:202650
5396	PRRX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:202650
5396	PRRX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:202650
5396	PRRX1	HP:0000160	Narrow mouth	2/2	OMIM:202650
5396	PRRX1	HP:0000160	Narrow mouth	HP:0040281	ORPHA:990
5396	PRRX1	HP:0000175	Cleft palate	1/1	OMIM:202650
5396	PRRX1	HP:0000171	Microglossia	HP:0040281	ORPHA:990
5396	PRRX1	HP:0000171	Microglossia	1/1	OMIM:202650
5396	PRRX1	HP:0002779	Tracheomalacia	1/1	OMIM:202650
5396	PRRX1	HP:0002089	Pulmonary hypoplasia	1/1	OMIM:202650
5396	PRRX1	HP:0002098	Respiratory distress	1/1	OMIM:202650
5396	PRRX1	HP:0002098	Respiratory distress	HP:0040281	ORPHA:990
5396	PRRX1	HP:0100596	Absent nares	HP:0040281	ORPHA:990
5396	PRRX1	HP:0100663	Synotia	2/2	OMIM:202650
5396	PRRX1	HP:0100663	Synotia	HP:0040281	ORPHA:990
5396	PRRX1	HP:0011386	Narrow internal auditory canal	HP:0040281	ORPHA:990
5396	PRRX1	HP:0012730	Aglossia	-	OMIM:202650
5396	PRRX1	HP:0011461	Fetal onset	3/3	OMIM:202650
5396	PRRX1	HP:0001561	Polyhydramnios	2/2	OMIM:202650
5396	PRRX1	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:990
5396	PRRX1	HP:0001696	Situs inversus totalis	HP:0040281	ORPHA:990
5396	PRRX1	HP:0001696	Situs inversus totalis	0/1	OMIM:202650
5396	PRRX1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:990
5396	PRRX1	HP:0000369	Low-set ears	2/2	OMIM:202650
5396	PRRX1	HP:0001684	Secundum atrial septal defect	1/1	OMIM:202650
5396	PRRX1	HP:0000347	Micrognathia	-	OMIM:202650
5396	PRRX1	HP:0005349	Hypoplasia of the epiglottis	1/1	OMIM:202650
5396	PRRX1	HP:0000405	Conductive hearing impairment	-	OMIM:202650
5396	PRRX1	HP:0000478	Abnormality of the eye	-	OMIM:202650
5396	PRRX1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:990
5396	PRRX1	HP:0000494	Downslanted palpebral fissures	2/2	OMIM:202650
5396	PRRX1	HP:0000445	Wide nose	1/1	OMIM:202650
5406	PNLIP	HP:0002570	Steatorrhea	2/2	OMIM:614338
5406	PNLIP	HP:0000007	Autosomal recessive inheritance	-	OMIM:614338
5406	PNLIP	HP:0002630	Fat malabsorption	2/2	OMIM:614338
5406	PNLIP	HP:0003623	Neonatal onset	2/2	OMIM:614338
5406	PNLIP	HP:0003146	Hypocholesterolemia	2/2	OMIM:614338
5406	PNLIP	HP:0012236	Elevated sweat chloride	0/2	OMIM:614338
5420	PODXL	HP:0007311	Short stepped shuffling gait	HP:0040282	ORPHA:391411
5420	PODXL	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:391411
5420	PODXL	HP:0002425	Anarthria	HP:0040283	ORPHA:391411
5420	PODXL	HP:0025269	Panic attack	HP:0040283	ORPHA:2828
5420	PODXL	HP:0001250	Seizure	HP:0040282	ORPHA:391411
5420	PODXL	HP:0001249	Intellectual disability	HP:0040282	ORPHA:391411
5420	PODXL	HP:0002578	Gastroparesis	HP:0040283	ORPHA:2828
5420	PODXL	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:391411
5420	PODXL	HP:0001257	Spasticity	HP:0040283	ORPHA:2828
5420	PODXL	HP:0002540	Inability to walk	HP:0040281	ORPHA:391411
5420	PODXL	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2828
5420	PODXL	HP:0001332	Dystonia	HP:0040283	ORPHA:2828
5420	PODXL	HP:0001332	Dystonia	HP:0040281	ORPHA:391411
5420	PODXL	HP:0001337	Tremor	HP:0040282	ORPHA:2828
5420	PODXL	HP:0001336	Myoclonus	HP:0040283	ORPHA:391411
5420	PODXL	HP:0002650	Scoliosis	HP:0040282	ORPHA:391411
5420	PODXL	HP:0008969	Leg muscle stiffness	HP:0040282	ORPHA:391411
5420	PODXL	HP:0002018	Nausea	HP:0040283	ORPHA:2828
5420	PODXL	HP:0002019	Constipation	HP:0040283	ORPHA:2828
5420	PODXL	HP:0040307	Male sexual dysfunction	HP:0040283	ORPHA:2828
5420	PODXL	HP:0002014	Diarrhea	HP:0040283	ORPHA:2828
5420	PODXL	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2828
5420	PODXL	HP:0002067	Bradykinesia	HP:0040283	ORPHA:2828
5420	PODXL	HP:0002067	Bradykinesia	HP:0040281	ORPHA:391411
5420	PODXL	HP:0002066	Gait ataxia	HP:0040282	ORPHA:391411
5420	PODXL	HP:0003394	Muscle spasm	HP:0040283	ORPHA:2828
5420	PODXL	HP:0002063	Rigidity	HP:0040281	ORPHA:2828
5420	PODXL	HP:0002063	Rigidity	HP:0040281	ORPHA:391411
5420	PODXL	HP:0002141	Gait imbalance	HP:0040283	ORPHA:2828
5420	PODXL	HP:0002172	Postural instability	HP:0040282	ORPHA:2828
5420	PODXL	HP:0002172	Postural instability	HP:0040281	ORPHA:391411
5420	PODXL	HP:0100710	Impulsivity	HP:0040284	ORPHA:2828
5420	PODXL	HP:0100785	Insomnia	HP:0040283	ORPHA:2828
5420	PODXL	HP:0002362	Shuffling gait	HP:0040283	ORPHA:391411
5420	PODXL	HP:0002322	Resting tremor	HP:0040281	ORPHA:391411
5420	PODXL	HP:0100660	Dyskinesia	HP:0040282	ORPHA:2828
5420	PODXL	HP:0007164	Slowed slurred speech	HP:0040281	ORPHA:391411
5420	PODXL	HP:0002304	Akinesia	HP:0040282	ORPHA:391411
5420	PODXL	HP:0000651	Diplopia	HP:0040284	ORPHA:2828
5420	PODXL	HP:0012638	Abnormal nervous system physiology	HP:0040282	ORPHA:391411
5420	PODXL	HP:0004305	Involuntary movements	HP:0040282	ORPHA:391411
5420	PODXL	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:391411
5420	PODXL	HP:0000738	Hallucinations	HP:0040282	ORPHA:2828
5420	PODXL	HP:0000739	Anxiety	HP:0040283	ORPHA:2828
5420	PODXL	HP:0000736	Short attention span	HP:0040283	ORPHA:2828
5420	PODXL	HP:0000741	Apathy	HP:0040282	ORPHA:2828
5420	PODXL	HP:0000716	Depression	HP:0040282	ORPHA:2828
5420	PODXL	HP:0000713	Agitation	HP:0040284	ORPHA:2828
5420	PODXL	HP:0000727	Frontal lobe dementia	HP:0040284	ORPHA:2828
5420	PODXL	HP:0000726	Dementia	HP:0040283	ORPHA:2828
5420	PODXL	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:2828
5420	PODXL	HP:0004409	Hyposmia	HP:0040283	ORPHA:2828
5420	PODXL	HP:0030014	Female sexual dysfunction	HP:0040283	ORPHA:2828
5420	PODXL	HP:0012378	Fatigue	HP:0040282	ORPHA:391411
5420	PODXL	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:2828
5420	PODXL	HP:0000338	Hypomimic face	HP:0040281	ORPHA:391411
5420	PODXL	HP:0001621	Weak voice	HP:0040282	ORPHA:391411
5420	PODXL	HP:0012444	Brain atrophy	HP:0040282	ORPHA:391411
5420	PODXL	HP:0012452	Restless legs	HP:0040283	ORPHA:2828
5420	PODXL	HP:0001761	Pes cavus	HP:0040282	ORPHA:391411
5420	PODXL	HP:0000551	Color vision defect	HP:0040283	ORPHA:2828
5422	POLA1	HP:0100962	Excessive shyness	1/9	OMIM:301030
5422	POLA1	HP:0010882	Pulmonary valve atresia	1/9	OMIM:301030
5422	POLA1	HP:0008551	Microtia	HP:0040281	ORPHA:163976
5422	POLA1	HP:0008551	Microtia	1/9	OMIM:301030
5422	POLA1	HP:0001272	Cerebellar atrophy	1/9	OMIM:301030
5422	POLA1	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:163976
5422	POLA1	HP:0001250	Seizure	1/9	OMIM:301030
5422	POLA1	HP:0002583	Colitis	9/14	OMIM:301220
5422	POLA1	HP:0001252	Hypotonia	4/9	OMIM:301030
5422	POLA1	HP:0001249	Intellectual disability	2/14	OMIM:301220
5422	POLA1	HP:0001249	Intellectual disability	9/9	OMIM:301030
5422	POLA1	HP:0001263	Global developmental delay	2/14	OMIM:301220
5422	POLA1	HP:0001263	Global developmental delay	9/9	OMIM:301030
5422	POLA1	HP:0001257	Spasticity	1/9	OMIM:301030
5422	POLA1	HP:0002575	Tracheoesophageal fistula	1/9	OMIM:301030
5422	POLA1	HP:0008757	Unilateral vocal cord paralysis	1/9	OMIM:301030
5422	POLA1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:163976
5422	POLA1	HP:0001217	Clubbing	3/14	OMIM:301220
5422	POLA1	HP:0000044	Hypogonadotropic hypogonadism	5/9	OMIM:301030
5422	POLA1	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:163976
5422	POLA1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:163976
5422	POLA1	HP:0002650	Scoliosis	1/9	OMIM:301030
5422	POLA1	HP:0000193	Bifid uvula	1/9	OMIM:301030
5422	POLA1	HP:0000154	Wide mouth	1/9	OMIM:301030
5422	POLA1	HP:0007599	Generalized reticulate brown pigmentation	-	OMIM:301220
5422	POLA1	HP:0007588	Reticular hyperpigmentation	16/16	OMIM:301220
5422	POLA1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:163976
5422	POLA1	HP:0001419	X-linked recessive inheritance	-	OMIM:301030
5422	POLA1	HP:0001419	X-linked recessive inheritance	-	OMIM:301220
5422	POLA1	HP:0002719	Recurrent infections	1/9	OMIM:301030
5422	POLA1	HP:0002714	Downturned corners of mouth	1/9	OMIM:301030
5422	POLA1	HP:0002032	Esophageal atresia	1/9	OMIM:301030
5422	POLA1	HP:0002028	Chronic diarrhea	9/14	OMIM:301220
5422	POLA1	HP:0005978	Type II diabetes mellitus	HP:0040281	ORPHA:163976
5422	POLA1	HP:0033178	Increased circulating interleukin 8 concentration	-	OMIM:301220
5422	POLA1	HP:0002059	Cerebral atrophy	1/9	OMIM:301030
5422	POLA1	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:163976
5422	POLA1	HP:0002110	Bronchiectasis	13/14	OMIM:301220
5422	POLA1	HP:0033253	Reduced circulating interferon gamma concentration	-	OMIM:301220
5422	POLA1	HP:0003577	Congenital onset	9/9	OMIM:301030
5422	POLA1	HP:0002236	Frontal upsweep of hair	2/2	OMIM:301220
5422	POLA1	HP:0100710	Impulsivity	1/9	OMIM:301030
5422	POLA1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040281	ORPHA:163976
5422	POLA1	HP:0007018	Attention deficit hyperactivity disorder	1/9	OMIM:301030
5422	POLA1	HP:0011968	Feeding difficulties	2/9	OMIM:301030
5422	POLA1	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:163976
5422	POLA1	HP:0004209	Clinodactyly of the 5th finger	1/9	OMIM:301030
5422	POLA1	HP:0000613	Photophobia	12/12	OMIM:301220
5422	POLA1	HP:0012646	Retractile testis	HP:0040281	ORPHA:163976
5422	POLA1	HP:0004322	Short stature	HP:0040281	ORPHA:163976
5422	POLA1	HP:0004322	Short stature	8/9	OMIM:301030
5422	POLA1	HP:0012745	Short palpebral fissure	1/9	OMIM:301030
5422	POLA1	HP:0000733	Motor stereotypy	1/9	OMIM:301030
5422	POLA1	HP:0000729	Autistic behavior	1/9	OMIM:301030
5422	POLA1	HP:0011463	Childhood onset	2/2	OMIM:301220
5422	POLA1	HP:0012760	Reduced social responsiveness	HP:0040281	ORPHA:163976
5422	POLA1	HP:0004440	Coronal craniosynostosis	HP:0040283	ORPHA:163976
5422	POLA1	HP:0004415	Pulmonary artery stenosis	1/9	OMIM:301030
5422	POLA1	HP:0003196	Short nose	1/9	OMIM:301030
5422	POLA1	HP:0000837	Increased circulating gonadotropin level	HP:0040282	ORPHA:163976
5422	POLA1	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:163976
5422	POLA1	HP:0000817	Reduced eye contact	1/9	OMIM:301030
5422	POLA1	HP:0003298	Spina bifida occulta	1/9	OMIM:301030
5422	POLA1	HP:0000965	Cutis marmorata	3/14	OMIM:301220
5422	POLA1	HP:0000966	Hypohidrosis	11/16	OMIM:301220
5422	POLA1	HP:0000960	Sacral dimple	2/9	OMIM:301030
5422	POLA1	HP:0000962	Hyperkeratosis	-	OMIM:301220
5422	POLA1	HP:0005819	Short middle phalanx of finger	1/9	OMIM:301030
5422	POLA1	HP:0040171	Decreased serum testosterone concentration	HP:0040282	ORPHA:163976
5422	POLA1	HP:0000278	Retrognathia	HP:0040281	ORPHA:163976
5422	POLA1	HP:0000278	Retrognathia	2/9	OMIM:301030
5422	POLA1	HP:0000276	Long face	1/9	OMIM:301030
5422	POLA1	HP:0012227	Urethral stricture	5/14	OMIM:301220
5422	POLA1	HP:0000252	Microcephaly	HP:0040281	ORPHA:163976
5422	POLA1	HP:0000252	Microcephaly	9/9	OMIM:301030
5422	POLA1	HP:0001531	Failure to thrive in infancy	2/2	OMIM:301220
5422	POLA1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:163976
5422	POLA1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:163976
5422	POLA1	HP:0001511	Intrauterine growth retardation	2/9	OMIM:301030
5422	POLA1	HP:0001510	Growth delay	-	OMIM:301030
5422	POLA1	HP:0006532	Recurrent pneumonia	12/12	OMIM:301220
5422	POLA1	HP:0012309	Cutaneous amyloidosis	-	OMIM:301220
5422	POLA1	HP:0001629	Ventricular septal defect	1/9	OMIM:301030
5422	POLA1	HP:0001631	Atrial septal defect	1/9	OMIM:301030
5422	POLA1	HP:0005280	Depressed nasal bridge	1/9	OMIM:301030
5422	POLA1	HP:0000411	Protruding ear	1/9	OMIM:301030
5422	POLA1	HP:0000505	Visual impairment	-	OMIM:301220
5422	POLA1	HP:0000582	Upslanted palpebral fissure	2/9	OMIM:301030
5422	POLA1	HP:0011229	Broad eyebrow	2/2	OMIM:301220
5422	POLA1	HP:0000586	Shallow orbits	1/9	OMIM:301030
5422	POLA1	HP:0000559	Corneal scarring	7/14	OMIM:301220
5422	POLA1	HP:0000572	Visual loss	-	OMIM:301220
5422	POLA1	HP:0000565	Esotropia	1/9	OMIM:301030
5424	POLD1	HP:0001123	Visual field defect	HP:0040283	ORPHA:440437
5424	POLD1	HP:0032275	Recurrent shingles	1/2	OMIM:620836
5424	POLD1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:440437
5424	POLD1	HP:0032218	Decreased proportion of CD4-positive T cells	4/4	OMIM:620836
5424	POLD1	HP:0001276	Hypertonia	HP:0040282	ORPHA:440437
5424	POLD1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:440437
5424	POLD1	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:440437
5424	POLD1	HP:0001250	Seizure	HP:0040282	ORPHA:440437
5424	POLD1	HP:0001252	Hypotonia	HP:0040282	ORPHA:440437
5424	POLD1	HP:0001260	Dysarthria	HP:0040283	ORPHA:440437
5424	POLD1	HP:0002576	Intussusception	HP:0040283	OMIM:174900
5424	POLD1	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
5424	POLD1	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	2/3	OMIM:620836
5424	POLD1	HP:0410378	Decreased naive CD4-positive T cell proportion	1/1	OMIM:620836
5424	POLD1	HP:0010976	Decreased total B cell count	1/1	OMIM:620836
5424	POLD1	HP:0001217	Clubbing	HP:0040283	OMIM:174900
5424	POLD1	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:440437
5424	POLD1	HP:0001397	Hepatic steatosis	2/3	OMIM:615381
5424	POLD1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:440437
5424	POLD1	HP:0000026	Male hypogonadism	3/3	OMIM:615381
5424	POLD1	HP:0000028	Cryptorchidism	3/3	OMIM:615381
5424	POLD1	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:440437
5424	POLD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
5424	POLD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
5424	POLD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:612591
5424	POLD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620836
5424	POLD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615381
5424	POLD1	HP:0002650	Scoliosis	3/4	OMIM:615381
5424	POLD1	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:440437
5424	POLD1	HP:0000160	Narrow mouth	-	OMIM:615381
5424	POLD1	HP:0012126	Stomach cancer	HP:0040284	ORPHA:440437
5424	POLD1	HP:0012114	Endometrial carcinoma	-	OMIM:612591
5424	POLD1	HP:0012114	Endometrial carcinoma	HP:0040282	ORPHA:447877
5424	POLD1	HP:0410028	Recurrent oral herpes	3/4	OMIM:620836
5424	POLD1	HP:0002783	Recurrent lower respiratory tract infections	1/4	OMIM:620836
5424	POLD1	HP:0012113	Abnormal circulating creatine concentration	HP:0040283	ORPHA:440437
5424	POLD1	HP:0002788	Recurrent upper respiratory tract infections	3/4	OMIM:620836
5424	POLD1	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:440437
5424	POLD1	HP:0002720	Decreased circulating IgA concentration	3/4	OMIM:620836
5424	POLD1	HP:0002024	Malabsorption	HP:0040281	ORPHA:440437
5424	POLD1	HP:0002019	Constipation	HP:0040281	ORPHA:440437
5424	POLD1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:440437
5424	POLD1	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
5424	POLD1	HP:0002027	Abdominal pain	HP:0040281	ORPHA:440437
5424	POLD1	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
5424	POLD1	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
5424	POLD1	HP:0002076	Migraine	HP:0040282	ORPHA:440437
5424	POLD1	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:440437
5424	POLD1	HP:0100585	Telangiectasia of the skin	4/4	OMIM:615381
5424	POLD1	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:440437
5424	POLD1	HP:0040276	Adenocarcinoma of the colon	HP:0040283	ORPHA:447877
5424	POLD1	HP:0002155	Hypertriglyceridemia	3/4	OMIM:615381
5424	POLD1	HP:0002110	Bronchiectasis	1/1	OMIM:620836
5424	POLD1	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:440437
5424	POLD1	HP:0010526	Dysgraphia	HP:0040283	ORPHA:440437
5424	POLD1	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:440437
5424	POLD1	HP:0003401	Paresthesia	HP:0040283	ORPHA:440437
5424	POLD1	HP:0003593	Infantile onset	1/3	OMIM:620836
5424	POLD1	HP:0002240	Hepatomegaly	1/4	OMIM:615381
5424	POLD1	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:440437
5424	POLD1	HP:0003581	Adult onset	-	OMIM:612591
5424	POLD1	HP:0009726	Renal neoplasm	-	ORPHA:440437
5424	POLD1	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:440437
5424	POLD1	HP:0100743	Neoplasm of the rectum	HP:0040283	ORPHA:447877
5424	POLD1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:440437
5424	POLD1	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:440437
5424	POLD1	HP:0002376	Developmental regression	HP:0040283	ORPHA:440437
5424	POLD1	HP:0002354	Memory impairment	HP:0040283	ORPHA:440437
5424	POLD1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:440437
5424	POLD1	HP:0100679	Lack of skin elasticity	4/4	OMIM:615381
5424	POLD1	HP:0200063	Colorectal polyposis	-	OMIM:612591
5424	POLD1	HP:0200063	Colorectal polyposis	HP:0040282	ORPHA:447877
5424	POLD1	HP:0100615	Ovarian neoplasm	-	ORPHA:440437
5424	POLD1	HP:0200043	Verrucae	1/1	OMIM:620836
5424	POLD1	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:440437
5424	POLD1	HP:0010784	Uterine neoplasm	HP:0040284	ORPHA:440437
5424	POLD1	HP:0003635	Loss of subcutaneous adipose tissue in limbs	4/4	OMIM:615381
5424	POLD1	HP:0006889	Intellectual disability, borderline	2/4	OMIM:620836
5424	POLD1	HP:0001903	Anemia	HP:0040282	OMIM:174900
5424	POLD1	HP:0000678	Dental crowding	4/4	OMIM:615381
5424	POLD1	HP:0004322	Short stature	1/1	OMIM:620836
5424	POLD1	HP:0004315	Decreased circulating IgG concentration	3/4	OMIM:620836
5424	POLD1	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:447877
5424	POLD1	HP:0004334	Dermal atrophy	-	OMIM:615381
5424	POLD1	HP:0003003	Colon cancer	20%	OMIM:174900
5424	POLD1	HP:0003003	Colon cancer	5/12	OMIM:608456
5424	POLD1	HP:0031964	Elevated circulating alanine aminotransferase concentration	3/4	OMIM:615381
5424	POLD1	HP:0030692	Brain neoplasm	HP:0040283	ORPHA:447877
5424	POLD1	HP:0003073	Hypoalbuminemia	-	OMIM:174900
5424	POLD1	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
5424	POLD1	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:440437
5424	POLD1	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:440437
5424	POLD1	HP:0100013	Neoplasm of the breast	-	ORPHA:440437
5424	POLD1	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:440437
5424	POLD1	HP:0000738	Hallucinations	HP:0040283	ORPHA:440437
5424	POLD1	HP:0000737	Irritability	HP:0040282	ORPHA:440437
5424	POLD1	HP:0000739	Anxiety	HP:0040282	ORPHA:440437
5424	POLD1	HP:0000750	Delayed speech and language development	1/1	OMIM:620836
5424	POLD1	HP:0000716	Depression	HP:0040282	ORPHA:440437
5424	POLD1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:440437
5424	POLD1	HP:0011463	Childhood onset	2/3	OMIM:620836
5424	POLD1	HP:0009125	Lipodystrophy	4/4	OMIM:615381
5424	POLD1	HP:0004469	Chronic bronchitis	1/1	OMIM:620836
5424	POLD1	HP:0000855	Insulin resistance	4/4	OMIM:615381
5424	POLD1	HP:0000819	Diabetes mellitus	3/4	OMIM:615381
5424	POLD1	HP:0040218	Reduced total natural killer cell count	1/1	OMIM:620836
5424	POLD1	HP:0034392	Joint contracture	4/4	OMIM:615381
5424	POLD1	HP:0100273	Neoplasm of the colon	HP:0040283	ORPHA:440437
5424	POLD1	HP:0000939	Osteoporosis	3/4	OMIM:615381
5424	POLD1	HP:0002808	Kyphosis	3/4	OMIM:615381
5424	POLD1	HP:0000252	Microcephaly	1/1	OMIM:620836
5424	POLD1	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:440437
5424	POLD1	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:440437
5424	POLD1	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
5424	POLD1	HP:0002850	Decreased circulating total IgM	3/4	OMIM:620836
5424	POLD1	HP:0012378	Fatigue	HP:0040281	ORPHA:440437
5424	POLD1	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
5424	POLD1	HP:0005227	Adenomatous colonic polyposis	HP:0040282	ORPHA:447877
5424	POLD1	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:615381
5424	POLD1	HP:0002900	Hypokalemia	-	OMIM:174900
5424	POLD1	HP:0000365	Hearing impairment	2/2	OMIM:620836
5424	POLD1	HP:0000347	Micrognathia	4/4	OMIM:615381
5424	POLD1	HP:0000320	Bird-like facies	4/4	OMIM:615381
5424	POLD1	HP:0001620	Abnormally high-pitched voice	4/4	OMIM:615381
5424	POLD1	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:620836
5424	POLD1	HP:0000407	Sensorineural hearing impairment	4/4	OMIM:615381
5424	POLD1	HP:0000444	Convex nasal ridge	-	OMIM:615381
5424	POLD1	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
5424	POLD1	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:440437
5424	POLD1	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:612591
5424	POLD1	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
5424	POLD1	HP:0000520	Proptosis	-	OMIM:615381
5424	POLD1	HP:0001824	Weight loss	HP:0040281	ORPHA:440437
5424	POLD1	HP:0000505	Visual impairment	HP:0040283	ORPHA:440437
5426	POLE	HP:0001123	Visual field defect	HP:0040283	ORPHA:440437
5426	POLE	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:440437
5426	POLE	HP:0008551	Microtia	-	OMIM:618336
5426	POLE	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5426	POLE	HP:0001293	Cranial nerve compression	-	OMIM:131300
5426	POLE	HP:0001276	Hypertonia	HP:0040282	ORPHA:440437
5426	POLE	HP:0001288	Gait disturbance	HP:0040283	ORPHA:440437
5426	POLE	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:440437
5426	POLE	HP:0001250	Seizure	3/15	OMIM:618336
5426	POLE	HP:0001250	Seizure	HP:0040282	ORPHA:440437
5426	POLE	HP:0001252	Hypotonia	HP:0040282	ORPHA:440437
5426	POLE	HP:0001252	Hypotonia	HP:0040281	ORPHA:85173
5426	POLE	HP:0001252	Hypotonia	2/7	OMIM:615777
5426	POLE	HP:0001249	Intellectual disability	5/7	OMIM:615777
5426	POLE	HP:0001260	Dysarthria	HP:0040283	ORPHA:440437
5426	POLE	HP:0001263	Global developmental delay	-	OMIM:615777
5426	POLE	HP:0002576	Intussusception	HP:0040283	OMIM:174900
5426	POLE	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
5426	POLE	HP:0007421	Telangiectases of the cheeks	11/14	OMIM:615139
5426	POLE	HP:0008689	Bilateral cryptorchidism	7/7	OMIM:618336
5426	POLE	HP:0001217	Clubbing	HP:0040283	OMIM:174900
5426	POLE	HP:0002515	Waddling gait	54/102	OMIM:131300
5426	POLE	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:440437
5426	POLE	HP:0000078	Abnormality of the genital system	HP:0040281	ORPHA:85173
5426	POLE	HP:0001371	Flexion contracture	HP:0040283	ORPHA:440437
5426	POLE	HP:0000054	Micropenis	HP:0040284	OMIM:618336
5426	POLE	HP:0001382	Joint hypermobility	-	OMIM:615777
5426	POLE	HP:0000047	Hypospadias	5/7	OMIM:618336
5426	POLE	HP:0000047	Hypospadias	HP:0040281	ORPHA:85173
5426	POLE	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5426	POLE	HP:0033832	Livedo	1/15	OMIM:618336
5426	POLE	HP:0033832	Livedo	10/14	OMIM:615139
5426	POLE	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:85173
5426	POLE	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5426	POLE	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5426	POLE	HP:0001324	Muscle weakness	40/96	OMIM:131300
5426	POLE	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5426	POLE	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:440437
5426	POLE	HP:0000007	Autosomal recessive inheritance	-	OMIM:618336
5426	POLE	HP:0000007	Autosomal recessive inheritance	-	OMIM:615139
5426	POLE	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5426	POLE	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
5426	POLE	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
5426	POLE	HP:0000006	Autosomal dominant inheritance	-	OMIM:615083
5426	POLE	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5426	POLE	HP:0002653	Bone pain	3/14	OMIM:615139
5426	POLE	HP:0002650	Scoliosis	3/15	OMIM:618336
5426	POLE	HP:0002650	Scoliosis	12/14	OMIM:131300
5426	POLE	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5426	POLE	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5426	POLE	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5426	POLE	HP:0012190	T-cell lymphoma	1/15	OMIM:618336
5426	POLE	HP:0012189	Hodgkin lymphoma	1/15	OMIM:618336
5426	POLE	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:440437
5426	POLE	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5426	POLE	HP:0000175	Cleft palate	2/7	OMIM:615777
5426	POLE	HP:0012126	Stomach cancer	HP:0040284	ORPHA:440437
5426	POLE	HP:0000135	Hypogonadism	HP:0040281	ORPHA:85173
5426	POLE	HP:0012114	Endometrial carcinoma	HP:0040282	ORPHA:447877
5426	POLE	HP:0002783	Recurrent lower respiratory tract infections	11/14	OMIM:615139
5426	POLE	HP:0012113	Abnormal circulating creatine concentration	HP:0040283	ORPHA:440437
5426	POLE	HP:0002788	Recurrent upper respiratory tract infections	11/14	OMIM:615139
5426	POLE	HP:0000126	Hydronephrosis	HP:0040281	ORPHA:85173
5426	POLE	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:440437
5426	POLE	HP:0002719	Recurrent infections	10/15	OMIM:618336
5426	POLE	HP:0002721	Immunodeficiency	12/14	OMIM:615139
5426	POLE	HP:0002721	Immunodeficiency	-	OMIM:618336
5426	POLE	HP:0002024	Malabsorption	HP:0040281	ORPHA:440437
5426	POLE	HP:0002019	Constipation	HP:0040281	ORPHA:440437
5426	POLE	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:440437
5426	POLE	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
5426	POLE	HP:0002027	Abdominal pain	HP:0040281	ORPHA:440437
5426	POLE	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
5426	POLE	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
5426	POLE	HP:0002007	Frontal bossing	HP:0040284	OMIM:618336
5426	POLE	HP:0002007	Frontal bossing	HP:0040281	ORPHA:85173
5426	POLE	HP:0002076	Migraine	HP:0040282	ORPHA:440437
5426	POLE	HP:0003388	Easy fatigability	36/76	OMIM:131300
5426	POLE	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5426	POLE	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:440437
5426	POLE	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:440437
5426	POLE	HP:0040276	Adenocarcinoma of the colon	HP:0040283	ORPHA:447877
5426	POLE	HP:0002110	Bronchiectasis	2/14	OMIM:615139
5426	POLE	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:440437
5426	POLE	HP:0008244	Congenital adrenal hypoplasia	12/15	OMIM:618336
5426	POLE	HP:0010526	Dysgraphia	HP:0040283	ORPHA:440437
5426	POLE	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:440437
5426	POLE	HP:0003401	Paresthesia	HP:0040283	ORPHA:440437
5426	POLE	HP:0003593	Infantile onset	1/15	OMIM:618336
5426	POLE	HP:0003577	Congenital onset	-	OMIM:615139
5426	POLE	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:440437
5426	POLE	HP:0003581	Adult onset	4/15	OMIM:618336
5426	POLE	HP:0003581	Adult onset	-	OMIM:615083
5426	POLE	HP:0009726	Renal neoplasm	-	ORPHA:440437
5426	POLE	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:440437
5426	POLE	HP:0100743	Neoplasm of the rectum	HP:0040283	ORPHA:447877
5426	POLE	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:440437
5426	POLE	HP:0011968	Feeding difficulties	-	OMIM:618336
5426	POLE	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:440437
5426	POLE	HP:0003510	Severe short stature	7/7	OMIM:615777
5426	POLE	HP:0003510	Severe short stature	12/12	OMIM:618336
5426	POLE	HP:0002376	Developmental regression	HP:0040283	ORPHA:440437
5426	POLE	HP:0002354	Memory impairment	HP:0040283	ORPHA:440437
5426	POLE	HP:0002315	Headache	-	OMIM:131300
5426	POLE	HP:0004976	Knee dislocation	6/7	OMIM:615777
5426	POLE	HP:0100660	Dyskinesia	HP:0040283	ORPHA:440437
5426	POLE	HP:0200063	Colorectal polyposis	-	OMIM:615083
5426	POLE	HP:0200063	Colorectal polyposis	HP:0040282	ORPHA:447877
5426	POLE	HP:0100615	Ovarian neoplasm	-	ORPHA:440437
5426	POLE	HP:0009803	Short phalanx of finger	-	OMIM:615777
5426	POLE	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:440437
5426	POLE	HP:0010784	Uterine neoplasm	HP:0040284	ORPHA:440437
5426	POLE	HP:0009763	Limb pain	63/92	OMIM:131300
5426	POLE	HP:0003623	Neonatal onset	4/15	OMIM:618336
5426	POLE	HP:0003621	Juvenile onset	2/15	OMIM:618336
5426	POLE	HP:0003621	Juvenile onset	-	OMIM:131300
5426	POLE	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5426	POLE	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5426	POLE	HP:6001056	Out-toeing	-	OMIM:131300
5426	POLE	HP:0000651	Diplopia	-	OMIM:131300
5426	POLE	HP:0001956	Truncal obesity	2/7	OMIM:615777
5426	POLE	HP:0001903	Anemia	HP:0040282	OMIM:174900
5426	POLE	HP:0001903	Anemia	HP:0040283	OMIM:131300
5426	POLE	HP:0010049	Short metacarpal	-	OMIM:615777
5426	POLE	HP:0000678	Dental crowding	-	OMIM:615777
5426	POLE	HP:0000670	Carious teeth	-	OMIM:131300
5426	POLE	HP:0011304	Broad thumb	2/7	OMIM:615777
5426	POLE	HP:0000668	Hypodontia	-	OMIM:615777
5426	POLE	HP:0000664	Synophrys	-	OMIM:615777
5426	POLE	HP:0004325	Decreased body weight	12/12	OMIM:618336
5426	POLE	HP:0004322	Short stature	12/13	OMIM:615139
5426	POLE	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:447877
5426	POLE	HP:0003003	Colon cancer	20%	OMIM:174900
5426	POLE	HP:0003003	Colon cancer	5/12	OMIM:608456
5426	POLE	HP:0030692	Brain neoplasm	HP:0040283	ORPHA:447877
5426	POLE	HP:0003073	Hypoalbuminemia	-	OMIM:174900
5426	POLE	HP:0004396	Poor appetite	-	OMIM:131300
5426	POLE	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
5426	POLE	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5426	POLE	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5426	POLE	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:440437
5426	POLE	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5426	POLE	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:440437
5426	POLE	HP:0003026	Short long bone	7/7	OMIM:615777
5426	POLE	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5426	POLE	HP:0100013	Neoplasm of the breast	-	ORPHA:440437
5426	POLE	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5426	POLE	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5426	POLE	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:440437
5426	POLE	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5426	POLE	HP:0000738	Hallucinations	HP:0040283	ORPHA:440437
5426	POLE	HP:0000737	Irritability	HP:0040282	ORPHA:440437
5426	POLE	HP:0000739	Anxiety	HP:0040282	ORPHA:440437
5426	POLE	HP:0000750	Delayed speech and language development	-	OMIM:615777
5426	POLE	HP:0000716	Depression	HP:0040282	ORPHA:440437
5426	POLE	HP:0000708	Atypical behavior	HP:0040282	ORPHA:440437
5426	POLE	HP:0011463	Childhood onset	4/15	OMIM:618336
5426	POLE	HP:0011461	Fetal onset	7/7	OMIM:615777
5426	POLE	HP:0000774	Narrow chest	2/7	OMIM:615777
5426	POLE	HP:0030731	Carcinoma	-	OMIM:615083
5426	POLE	HP:0000926	Platyspondyly	1/7	OMIM:615777
5426	POLE	HP:0003189	Long nose	1/15	OMIM:618336
5426	POLE	HP:0003180	Flat acetabular roof	-	OMIM:615777
5426	POLE	HP:0004482	Relative macrocephaly	-	OMIM:615139
5426	POLE	HP:0004482	Relative macrocephaly	-	OMIM:615777
5426	POLE	HP:0004482	Relative macrocephaly	1/15	OMIM:618336
5426	POLE	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5426	POLE	HP:0000835	Adrenal hypoplasia	HP:0040281	ORPHA:85173
5426	POLE	HP:0000824	Decreased response to growth hormone stimulation test	5/15	OMIM:618336
5426	POLE	HP:0000823	Delayed puberty	-	OMIM:131300
5426	POLE	HP:0000894	Short clavicles	-	OMIM:615777
5426	POLE	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5426	POLE	HP:0100255	Metaphyseal dysplasia	-	OMIM:618336
5426	POLE	HP:0100255	Metaphyseal dysplasia	HP:0040281	ORPHA:85173
5426	POLE	HP:0100273	Neoplasm of the colon	HP:0040283	ORPHA:440437
5426	POLE	HP:0000957	Cafe-au-lait spot	5/15	OMIM:618336
5426	POLE	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5426	POLE	HP:0000964	Eczematoid dermatitis	3/15	OMIM:618336
5426	POLE	HP:0000938	Osteopenia	4/15	OMIM:618336
5426	POLE	HP:0000286	Epicanthus	1/7	OMIM:615777
5426	POLE	HP:0000280	Coarse facial features	2/7	OMIM:615777
5426	POLE	HP:0000272	Malar flattening	11/14	OMIM:615139
5426	POLE	HP:0002827	Hip dislocation	3/7	OMIM:615777
5426	POLE	HP:0030084	Clinodactyly	1/15	OMIM:618336
5426	POLE	HP:0000252	Microcephaly	10/10	OMIM:618336
5426	POLE	HP:0000252	Microcephaly	-	OMIM:615777
5426	POLE	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:440437
5426	POLE	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:440437
5426	POLE	HP:0002857	Genu valgum	-	OMIM:131300
5426	POLE	HP:0001533	Slender build	-	OMIM:131300
5426	POLE	HP:0031367	Metaphyseal striations	1/14	OMIM:615139
5426	POLE	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
5426	POLE	HP:0002850	Decreased circulating total IgM	14/14	OMIM:615139
5426	POLE	HP:0001511	Intrauterine growth retardation	15/15	OMIM:618336
5426	POLE	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:85173
5426	POLE	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5426	POLE	HP:0007807	Optic nerve compression	-	OMIM:131300
5426	POLE	HP:0012378	Fatigue	HP:0040281	ORPHA:440437
5426	POLE	HP:0012368	Flat face	7/7	OMIM:615777
5426	POLE	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
5426	POLE	HP:0005227	Adenomatous colonic polyposis	HP:0040282	ORPHA:447877
5426	POLE	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5426	POLE	HP:0002900	Hypokalemia	-	OMIM:174900
5426	POLE	HP:0000365	Hearing impairment	10/67	OMIM:131300
5426	POLE	HP:0000358	Posteriorly rotated ears	1/15	OMIM:618336
5426	POLE	HP:0000369	Low-set ears	1/15	OMIM:618336
5426	POLE	HP:0000369	Low-set ears	HP:0040281	ORPHA:85173
5426	POLE	HP:0000343	Long philtrum	1/7	OMIM:615777
5426	POLE	HP:0011001	Increased bone mineral density	-	OMIM:131300
5426	POLE	HP:0000337	Broad forehead	11/14	OMIM:615139
5426	POLE	HP:0000347	Micrognathia	1/15	OMIM:618336
5426	POLE	HP:0002983	Micromelia	HP:0040281	ORPHA:85173
5426	POLE	HP:0000311	Round face	2/7	OMIM:615777
5426	POLE	HP:0002970	Genu varum	-	OMIM:615777
5426	POLE	HP:0000303	Mandibular prognathia	-	OMIM:131300
5426	POLE	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:85173
5426	POLE	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5426	POLE	HP:0000460	Narrow nose	-	OMIM:618336
5426	POLE	HP:0000475	Broad neck	1/15	OMIM:618336
5426	POLE	HP:0000470	Short neck	-	OMIM:618336
5426	POLE	HP:0000470	Short neck	1/7	OMIM:615777
5426	POLE	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5426	POLE	HP:0001763	Pes planus	1/7	OMIM:615777
5426	POLE	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
5426	POLE	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:440437
5426	POLE	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
5426	POLE	HP:0001840	Metatarsus adductus	-	OMIM:615777
5426	POLE	HP:0000520	Proptosis	2/4	OMIM:131300
5426	POLE	HP:0000520	Proptosis	7/7	OMIM:615777
5426	POLE	HP:0001824	Weight loss	HP:0040281	ORPHA:440437
5426	POLE	HP:0000505	Visual impairment	HP:0040283	ORPHA:440437
5426	POLE	HP:0000592	Blue sclerae	2/7	OMIM:615777
5426	POLE	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5426	POLE	HP:0012514	Lower limb pain	4/4	OMIM:131300
5428	POLG	HP:0001155	Abnormality of the hand	HP:0040282	ORPHA:298
5428	POLG	HP:0002495	Impaired vibratory sensation	HP:0040282	ORPHA:94125
5428	POLG	HP:0002495	Impaired vibratory sensation	HP:0040282	ORPHA:70595
5428	POLG	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:298
5428	POLG	HP:0002460	Distal muscle weakness	1/7	OMIM:607459
5428	POLG	HP:0002460	Distal muscle weakness	1/1	OMIM:258450
5428	POLG	HP:0002460	Distal muscle weakness	11/11	OMIM:603041
5428	POLG	HP:0002448	Progressive encephalopathy	HP:0040282	ORPHA:254881
5428	POLG	HP:0002446	Astrocytosis	-	OMIM:203700
5428	POLG	HP:6000570	Reduced tissue thymidine phosphorylase activity	16/16	OMIM:603041
5428	POLG	HP:0007302	Bipolar affective disorder	HP:0040284	ORPHA:254892
5428	POLG	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040282	ORPHA:70595
5428	POLG	HP:0025149	Atrophic muscularis propria	HP:0040281	ORPHA:298
5428	POLG	HP:0007240	Progressive gait ataxia	-	OMIM:607459
5428	POLG	HP:0010871	Sensory ataxia	1/7	OMIM:607459
5428	POLG	HP:0003731	Quadriceps muscle weakness	HP:0040282	ORPHA:254892
5428	POLG	HP:0003722	Neck flexor weakness	1/2	OMIM:157640
5428	POLG	HP:0002406	Limb dysmetria	HP:0040282	ORPHA:94125
5428	POLG	HP:0003737	Mitochondrial myopathy	HP:0040282	ORPHA:254892
5428	POLG	HP:0003737	Mitochondrial myopathy	HP:0040282	ORPHA:254886
5428	POLG	HP:0003737	Mitochondrial myopathy	-	OMIM:613662
5428	POLG	HP:0003737	Mitochondrial myopathy	-	OMIM:603041
5428	POLG	HP:0003737	Mitochondrial myopathy	-	OMIM:258450
5428	POLG	HP:0002403	Positive Romberg sign	-	OMIM:258450
5428	POLG	HP:0002403	Positive Romberg sign	HP:0040282	ORPHA:94125
5428	POLG	HP:0002403	Positive Romberg sign	HP:0040282	ORPHA:70595
5428	POLG	HP:0002403	Positive Romberg sign	2/7	OMIM:607459
5428	POLG	HP:0003701	Proximal muscle weakness	-	OMIM:607459
5428	POLG	HP:0003701	Proximal muscle weakness	1/1	OMIM:258450
5428	POLG	HP:0003701	Proximal muscle weakness	HP:0040283	ORPHA:254886
5428	POLG	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:70595
5428	POLG	HP:0003700	Generalized amyotrophy	-	OMIM:258450
5428	POLG	HP:0003700	Generalized amyotrophy	2/7	OMIM:607459
5428	POLG	HP:0003713	Muscle fiber necrosis	-	OMIM:157640
5428	POLG	HP:0003713	Muscle fiber necrosis	-	OMIM:607459
5428	POLG	HP:0003713	Muscle fiber necrosis	-	OMIM:258450
5428	POLG	HP:0001298	Encephalopathy	1/3	OMIM:203700
5428	POLG	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:254892
5428	POLG	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:94125
5428	POLG	HP:0001290	Generalized hypotonia	-	OMIM:203700
5428	POLG	HP:0001290	Generalized hypotonia	-	OMIM:613662
5428	POLG	HP:0001276	Hypertonia	1/3	OMIM:203700
5428	POLG	HP:0001276	Hypertonia	HP:0040284	ORPHA:254892
5428	POLG	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:254892
5428	POLG	HP:0001272	Cerebellar atrophy	1/1	OMIM:258450
5428	POLG	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:254886
5428	POLG	HP:0001272	Cerebellar atrophy	2/3	OMIM:203700
5428	POLG	HP:0001288	Gait disturbance	HP:0040283	ORPHA:254892
5428	POLG	HP:0001288	Gait disturbance	HP:0040282	ORPHA:94125
5428	POLG	HP:0001284	Areflexia	HP:0040282	ORPHA:94125
5428	POLG	HP:0001284	Areflexia	HP:0040282	ORPHA:726
5428	POLG	HP:0001284	Areflexia	5/7	OMIM:607459
5428	POLG	HP:0001284	Areflexia	-	OMIM:258450
5428	POLG	HP:0001284	Areflexia	27/33	OMIM:603041
5428	POLG	HP:0001284	Areflexia	HP:0040283	ORPHA:70595
5428	POLG	HP:0001254	Lethargy	HP:0040283	ORPHA:254892
5428	POLG	HP:0001250	Seizure	HP:0040282	ORPHA:94125
5428	POLG	HP:0001250	Seizure	HP:0040283	ORPHA:70595
5428	POLG	HP:0001250	Seizure	HP:0040284	ORPHA:254892
5428	POLG	HP:0001250	Seizure	HP:0040283	OMIM:613662
5428	POLG	HP:0001250	Seizure	-	OMIM:607459
5428	POLG	HP:0001252	Hypotonia	HP:0040282	ORPHA:726
5428	POLG	HP:0001252	Hypotonia	-	OMIM:203700
5428	POLG	HP:0001252	Hypotonia	-	OMIM:613662
5428	POLG	HP:0001251	Ataxia	HP:0040283	ORPHA:254892
5428	POLG	HP:0001251	Ataxia	HP:0040283	ORPHA:254886
5428	POLG	HP:0001251	Ataxia	HP:0040282	ORPHA:94125
5428	POLG	HP:0001251	Ataxia	3/3	OMIM:203700
5428	POLG	HP:0001251	Ataxia	-	OMIM:613662
5428	POLG	HP:0001251	Ataxia	4/7	OMIM:607459
5428	POLG	HP:0001251	Ataxia	HP:0040282	ORPHA:726
5428	POLG	HP:0002579	Gastrointestinal dysmotility	HP:0040281	ORPHA:298
5428	POLG	HP:0002579	Gastrointestinal dysmotility	-	OMIM:603041
5428	POLG	HP:0002579	Gastrointestinal dysmotility	-	OMIM:613662
5428	POLG	HP:0001249	Intellectual disability	HP:0040283	ORPHA:298
5428	POLG	HP:0001249	Intellectual disability	1/35	OMIM:603041
5428	POLG	HP:0002578	Gastroparesis	HP:0040283	ORPHA:254892
5428	POLG	HP:0002578	Gastroparesis	4/7	OMIM:603041
5428	POLG	HP:0002578	Gastroparesis	HP:0040283	ORPHA:70595
5428	POLG	HP:0002578	Gastroparesis	-	OMIM:157640
5428	POLG	HP:0002578	Gastroparesis	-	OMIM:607459
5428	POLG	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:254892
5428	POLG	HP:0001265	Hyporeflexia	-	OMIM:258450
5428	POLG	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:254886
5428	POLG	HP:0001265	Hyporeflexia	-	OMIM:157640
5428	POLG	HP:0001265	Hyporeflexia	-	OMIM:607459
5428	POLG	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:70595
5428	POLG	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:726
5428	POLG	HP:0001260	Dysarthria	HP:0040283	ORPHA:254892
5428	POLG	HP:0001260	Dysarthria	1/1	OMIM:258450
5428	POLG	HP:0001260	Dysarthria	HP:0040282	ORPHA:254881
5428	POLG	HP:0001260	Dysarthria	-	OMIM:157640
5428	POLG	HP:0001260	Dysarthria	HP:0040283	ORPHA:94125
5428	POLG	HP:0001260	Dysarthria	5/8	OMIM:607459
5428	POLG	HP:0001260	Dysarthria	HP:0040282	ORPHA:70595
5428	POLG	HP:0001263	Global developmental delay	HP:0040282	ORPHA:726
5428	POLG	HP:0001263	Global developmental delay	-	OMIM:203700
5428	POLG	HP:0001263	Global developmental delay	HP:0040283	OMIM:613662
5428	POLG	HP:0001257	Spasticity	HP:0040282	ORPHA:726
5428	POLG	HP:0001259	Coma	HP:0040282	ORPHA:726
5428	POLG	HP:0033685	Fiber type grouping	1/3	OMIM:607459
5428	POLG	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:726
5428	POLG	HP:0007344	Atrophy/Degeneration involving the spinal cord	-	OMIM:607459
5428	POLG	HP:0007344	Atrophy/Degeneration involving the spinal cord	HP:0040282	ORPHA:70595
5428	POLG	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:254881
5428	POLG	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	-	OMIM:157640
5428	POLG	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	HP:0040283	ORPHA:254886
5428	POLG	HP:0002529	Neuronal loss in central nervous system	-	OMIM:203700
5428	POLG	HP:0002522	Areflexia of lower limbs	1/1	OMIM:603041
5428	POLG	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:254886
5428	POLG	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:298
5428	POLG	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	OMIM:613662
5428	POLG	HP:0012079	Abnormality of central motor conduction	HP:0040282	ORPHA:94125
5428	POLG	HP:0012072	Aciduria	-	OMIM:203700
5428	POLG	HP:0001399	Hepatic failure	2/3	OMIM:203700
5428	POLG	HP:0001392	Abnormality of the liver	HP:0040284	ORPHA:254892
5428	POLG	HP:0001394	Cirrhosis	HP:0040283	ORPHA:298
5428	POLG	HP:0012050	Anasarca	1/3	OMIM:203700
5428	POLG	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:298
5428	POLG	HP:0025331	Upgaze palsy	HP:0040282	ORPHA:70595
5428	POLG	HP:0001350	Slurred speech	1/2	OMIM:157640
5428	POLG	HP:0001349	Facial diplegia	HP:0040283	ORPHA:254892
5428	POLG	HP:0000017	Nocturia	HP:0040284	ORPHA:254892
5428	POLG	HP:0000029	Testicular atrophy	-	OMIM:157640
5428	POLG	HP:0001332	Dystonia	1/1	OMIM:258450
5428	POLG	HP:0001332	Dystonia	HP:0040282	ORPHA:254881
5428	POLG	HP:0033720	EEG with occipital epileptiform discharges	HP:0040282	ORPHA:254881
5428	POLG	HP:0001324	Muscle weakness	2/2	OMIM:613662
5428	POLG	HP:0001324	Muscle weakness	7/7	OMIM:607459
5428	POLG	HP:0000007	Autosomal recessive inheritance	-	OMIM:258450
5428	POLG	HP:0000007	Autosomal recessive inheritance	-	OMIM:607459
5428	POLG	HP:0000007	Autosomal recessive inheritance	-	OMIM:603041
5428	POLG	HP:0000007	Autosomal recessive inheritance	-	OMIM:203700
5428	POLG	HP:0000007	Autosomal recessive inheritance	-	OMIM:613662
5428	POLG	HP:0001337	Tremor	HP:0040283	ORPHA:254892
5428	POLG	HP:0001337	Tremor	HP:0040282	ORPHA:254881
5428	POLG	HP:0000006	Autosomal dominant inheritance	-	OMIM:157640
5428	POLG	HP:0001336	Myoclonus	HP:0040282	ORPHA:726
5428	POLG	HP:0001336	Myoclonus	-	OMIM:203700
5428	POLG	HP:0001336	Myoclonus	-	OMIM:607459
5428	POLG	HP:0001336	Myoclonus	HP:0040282	ORPHA:254881
5428	POLG	HP:0001336	Myoclonus	HP:0040282	ORPHA:70595
5428	POLG	HP:0033748	Hypoesthesia	1/7	OMIM:607459
5428	POLG	HP:0033748	Hypoesthesia	1/1	OMIM:603041
5428	POLG	HP:0001310	Dysmetria	HP:0040282	ORPHA:94125
5428	POLG	HP:0001310	Dysmetria	1/7	OMIM:607459
5428	POLG	HP:0001310	Dysmetria	HP:0040282	ORPHA:254881
5428	POLG	HP:0002650	Scoliosis	1/1	OMIM:258450
5428	POLG	HP:0002650	Scoliosis	1/3	OMIM:203700
5428	POLG	HP:0001300	Parkinsonism	-	OMIM:258450
5428	POLG	HP:0001300	Parkinsonism	2/2	OMIM:157640
5428	POLG	HP:0000182	Movement abnormality of the tongue	HP:0040282	ORPHA:254881
5428	POLG	HP:0025461	Abnormal cell morphology	HP:0040283	ORPHA:298
5428	POLG	HP:0001488	Bilateral ptosis	2/2	OMIM:258450
5428	POLG	HP:0007641	Dyschromatopsia	HP:0040283	OMIM:258450
5428	POLG	HP:0007641	Dyschromatopsia	HP:0040283	ORPHA:254886
5428	POLG	HP:0033842	Early satiety	14/15	OMIM:603041
5428	POLG	HP:0012103	Abnormality of the mitochondrion	HP:0040282	ORPHA:298
5428	POLG	HP:0012103	Abnormality of the mitochondrion	HP:0040282	ORPHA:254892
5428	POLG	HP:0002779	Tracheomalacia	1/3	OMIM:203700
5428	POLG	HP:0002791	Hypoventilation	1/3	OMIM:203700
5428	POLG	HP:0025403	Stooped posture	HP:0040283	ORPHA:254886
5428	POLG	HP:0001408	Bile duct proliferation	2/3	OMIM:203700
5428	POLG	HP:0001403	Macrovesicular hepatic steatosis	HP:0040283	ORPHA:298
5428	POLG	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:258450
5428	POLG	HP:0001414	Microvesicular hepatic steatosis	-	OMIM:203700
5428	POLG	HP:0001413	Micronodular cirrhosis	2/3	OMIM:203700
5428	POLG	HP:0002024	Malabsorption	-	OMIM:603041
5428	POLG	HP:0002024	Malabsorption	-	OMIM:613662
5428	POLG	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:298
5428	POLG	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:254892
5428	POLG	HP:0002018	Nausea	HP:0040281	ORPHA:298
5428	POLG	HP:0002019	Constipation	-	OMIM:613662
5428	POLG	HP:0002019	Constipation	HP:0040283	ORPHA:254892
5428	POLG	HP:0002019	Constipation	-	OMIM:603041
5428	POLG	HP:0003348	Hyperalaninemia	HP:0040282	ORPHA:254881
5428	POLG	HP:0003348	Hyperalaninemia	HP:0040282	ORPHA:298
5428	POLG	HP:0002027	Abdominal pain	HP:0040281	ORPHA:298
5428	POLG	HP:0002027	Abdominal pain	-	OMIM:613662
5428	POLG	HP:0002027	Abdominal pain	17/18	OMIM:603041
5428	POLG	HP:0003326	Myalgia	HP:0040283	ORPHA:254892
5428	POLG	HP:0002014	Diarrhea	HP:0040282	ORPHA:298
5428	POLG	HP:0002014	Diarrhea	27/29	OMIM:603041
5428	POLG	HP:0002015	Dysphagia	HP:0040281	ORPHA:298
5428	POLG	HP:0002015	Dysphagia	HP:0040283	ORPHA:254892
5428	POLG	HP:0002015	Dysphagia	1/1	OMIM:258450
5428	POLG	HP:0002015	Dysphagia	HP:0040282	ORPHA:254886
5428	POLG	HP:0002015	Dysphagia	-	OMIM:157640
5428	POLG	HP:0002015	Dysphagia	HP:0040282	ORPHA:94125
5428	POLG	HP:0002015	Dysphagia	3/7	OMIM:607459
5428	POLG	HP:0002015	Dysphagia	12/28	OMIM:603041
5428	POLG	HP:0002013	Vomiting	HP:0040281	ORPHA:298
5428	POLG	HP:0002013	Vomiting	-	OMIM:203700
5428	POLG	HP:0002013	Vomiting	24/32	OMIM:603041
5428	POLG	HP:0003323	Progressive muscle weakness	-	OMIM:157640
5428	POLG	HP:0003324	Generalized muscle weakness	-	OMIM:613662
5428	POLG	HP:0003324	Generalized muscle weakness	-	OMIM:607459
5428	POLG	HP:0002080	Intention tremor	1/1	OMIM:258450
5428	POLG	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:94125
5428	POLG	HP:0100543	Cognitive impairment	-	OMIM:607459
5428	POLG	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:254892
5428	POLG	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:254886
5428	POLG	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:70595
5428	POLG	HP:0002093	Respiratory insufficiency	2/7	OMIM:607459
5428	POLG	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:254892
5428	POLG	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:726
5428	POLG	HP:0002067	Bradykinesia	HP:0040282	ORPHA:254892
5428	POLG	HP:0002067	Bradykinesia	-	OMIM:258450
5428	POLG	HP:0002067	Bradykinesia	HP:0040283	ORPHA:254886
5428	POLG	HP:0002067	Bradykinesia	2/2	OMIM:157640
5428	POLG	HP:0002066	Gait ataxia	1/1	OMIM:607459
5428	POLG	HP:0002066	Gait ataxia	HP:0040283	ORPHA:254892
5428	POLG	HP:0002066	Gait ataxia	1/1	OMIM:258450
5428	POLG	HP:0002066	Gait ataxia	HP:0040282	ORPHA:254881
5428	POLG	HP:0002066	Gait ataxia	-	OMIM:157640
5428	POLG	HP:0002066	Gait ataxia	HP:0040282	ORPHA:70595
5428	POLG	HP:0003394	Muscle spasm	HP:0040284	ORPHA:254892
5428	POLG	HP:0002063	Rigidity	HP:0040283	ORPHA:254892
5428	POLG	HP:0002063	Rigidity	-	OMIM:258450
5428	POLG	HP:0002063	Rigidity	-	OMIM:157640
5428	POLG	HP:0003390	Sensory axonal neuropathy	-	OMIM:258450
5428	POLG	HP:0003390	Sensory axonal neuropathy	HP:0040282	ORPHA:94125
5428	POLG	HP:0003390	Sensory axonal neuropathy	HP:0040282	ORPHA:254881
5428	POLG	HP:0003390	Sensory axonal neuropathy	HP:0040282	ORPHA:254886
5428	POLG	HP:0003390	Sensory axonal neuropathy	1/2	OMIM:157640
5428	POLG	HP:0003390	Sensory axonal neuropathy	1/7	OMIM:607459
5428	POLG	HP:0002078	Truncal ataxia	1/1	OMIM:258450
5428	POLG	HP:0002076	Migraine	HP:0040284	ORPHA:254892
5428	POLG	HP:0002076	Migraine	HP:0040282	ORPHA:254881
5428	POLG	HP:0002076	Migraine	HP:0040283	ORPHA:70595
5428	POLG	HP:0002076	Migraine	-	OMIM:607459
5428	POLG	HP:0002075	Dysdiadochokinesis	HP:0040282	ORPHA:254881
5428	POLG	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:254881
5428	POLG	HP:0002070	Limb ataxia	-	OMIM:258450
5428	POLG	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:254892
5428	POLG	HP:0003376	Steppage gait	-	OMIM:258450
5428	POLG	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:254886
5428	POLG	HP:0002059	Cerebral atrophy	3/3	OMIM:203700
5428	POLG	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	HP:0040282	ORPHA:298
5428	POLG	HP:0003388	Easy fatigability	HP:0040283	ORPHA:254892
5428	POLG	HP:0003388	Easy fatigability	HP:0040282	ORPHA:298
5428	POLG	HP:0008180	Mildly elevated creatine kinase	-	OMIM:258450
5428	POLG	HP:0008180	Mildly elevated creatine kinase	1/7	OMIM:607459
5428	POLG	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:254892
5428	POLG	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:298
5428	POLG	HP:0003477	Peripheral axonal neuropathy	1/7	OMIM:607459
5428	POLG	HP:0003470	Paralysis	-	OMIM:203700
5428	POLG	HP:0003487	Babinski sign	1/1	OMIM:258450
5428	POLG	HP:0003487	Babinski sign	1/7	OMIM:607459
5428	POLG	HP:0002151	Increased circulating lactate concentration	1/3	OMIM:203700
5428	POLG	HP:0002151	Increased circulating lactate concentration	-	OMIM:607459
5428	POLG	HP:0002151	Increased circulating lactate concentration	HP:0040283	ORPHA:254892
5428	POLG	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:254881
5428	POLG	HP:0002151	Increased circulating lactate concentration	-	OMIM:157640
5428	POLG	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:70595
5428	POLG	HP:0003448	Decreased sensory nerve conduction velocity	HP:0040282	ORPHA:298
5428	POLG	HP:0002136	Broad-based gait	-	OMIM:607459
5428	POLG	HP:0002133	Status epilepticus	1/3	OMIM:203700
5428	POLG	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:254892
5428	POLG	HP:0003458	EMG: myopathic abnormalities	-	OMIM:258450
5428	POLG	HP:0003458	EMG: myopathic abnormalities	-	OMIM:157640
5428	POLG	HP:0003434	Sensory ataxic neuropathy	2/2	OMIM:613662
5428	POLG	HP:0003434	Sensory ataxic neuropathy	-	OMIM:607459
5428	POLG	HP:0003434	Sensory ataxic neuropathy	-	OMIM:258450
5428	POLG	HP:0003434	Sensory ataxic neuropathy	HP:0040282	ORPHA:70595
5428	POLG	HP:0003431	Decreased motor nerve conduction velocity	HP:0040282	ORPHA:298
5428	POLG	HP:0003438	Absent Achilles reflex	HP:0040284	ORPHA:254892
5428	POLG	HP:0003438	Absent Achilles reflex	1/7	OMIM:607459
5428	POLG	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:613662
5428	POLG	HP:0002191	Progressive spasticity	HP:0040282	ORPHA:726
5428	POLG	HP:0002171	Gliosis	2/3	OMIM:203700
5428	POLG	HP:0010546	Muscle fibrillation	2/7	OMIM:607459
5428	POLG	HP:0008209	Premature ovarian insufficiency	-	OMIM:157640
5428	POLG	HP:0003401	Paresthesia	HP:0040282	ORPHA:254886
5428	POLG	HP:0003401	Paresthesia	HP:0040282	ORPHA:298
5428	POLG	HP:0003596	Middle age onset	2/2	OMIM:258450
5428	POLG	HP:0003596	Middle age onset	1/2	OMIM:157640
5428	POLG	HP:0003593	Infantile onset	1/3	OMIM:203700
5428	POLG	HP:0003593	Infantile onset	-	OMIM:613662
5428	POLG	HP:0002273	Tetraparesis	1/3	OMIM:203700
5428	POLG	HP:0002240	Hepatomegaly	-	OMIM:203700
5428	POLG	HP:0100704	Cerebral visual impairment	HP:0040284	ORPHA:254892
5428	POLG	HP:0100704	Cerebral visual impairment	3/3	OMIM:203700
5428	POLG	HP:0002254	Intermittent diarrhea	-	OMIM:603041
5428	POLG	HP:0002253	Colonic diverticula	16/24	OMIM:603041
5428	POLG	HP:0003581	Adult onset	6/7	OMIM:607459
5428	POLG	HP:0003581	Adult onset	-	OMIM:157640
5428	POLG	HP:0003552	Muscle stiffness	HP:0040283	ORPHA:254886
5428	POLG	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:254892
5428	POLG	HP:0003551	Difficulty climbing stairs	1/1	OMIM:258450
5428	POLG	HP:0003551	Difficulty climbing stairs	1/7	OMIM:607459
5428	POLG	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:254892
5428	POLG	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	-	OMIM:157640
5428	POLG	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	-	OMIM:607459
5428	POLG	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	-	OMIM:603041
5428	POLG	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	-	OMIM:258450
5428	POLG	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:254892
5428	POLG	HP:0003546	Exercise intolerance	-	OMIM:258450
5428	POLG	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:254886
5428	POLG	HP:0003546	Exercise intolerance	2/2	OMIM:157640
5428	POLG	HP:0003546	Exercise intolerance	1/7	OMIM:607459
5428	POLG	HP:0003557	Increased variability in muscle fiber diameter	2/2	OMIM:258450
5428	POLG	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:157640
5428	POLG	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:70595
5428	POLG	HP:0003557	Increased variability in muscle fiber diameter	3/3	OMIM:607459
5428	POLG	HP:0003542	Increased circulating pyruvate concentration	HP:0040282	ORPHA:94125
5428	POLG	HP:0003535	3-Methylglutaconic aciduria	-	OMIM:203700
5428	POLG	HP:0007042	Focal white matter lesions	HP:0040283	ORPHA:254892
5428	POLG	HP:0008347	Decreased activity of mitochondrial complex IV	2/2	OMIM:613662
5428	POLG	HP:0010628	Facial palsy	HP:0040282	ORPHA:254892
5428	POLG	HP:0010628	Facial palsy	1/1	OMIM:258450
5428	POLG	HP:0010628	Facial palsy	HP:0040282	ORPHA:254886
5428	POLG	HP:0010628	Facial palsy	-	OMIM:157640
5428	POLG	HP:0002385	Paraparesis	HP:0040282	ORPHA:726
5428	POLG	HP:0002396	Cogwheel rigidity	HP:0040283	ORPHA:254892
5428	POLG	HP:0002396	Cogwheel rigidity	HP:0040283	ORPHA:254886
5428	POLG	HP:0002362	Shuffling gait	HP:0040283	ORPHA:254886
5428	POLG	HP:0003693	Distal amyotrophy	-	OMIM:603041
5428	POLG	HP:0003691	Scapular winging	HP:0040284	ORPHA:254886
5428	POLG	HP:0003691	Scapular winging	1/7	OMIM:607459
5428	POLG	HP:0003690	Limb muscle weakness	HP:0040282	ORPHA:254892
5428	POLG	HP:0003690	Limb muscle weakness	-	OMIM:157640
5428	POLG	HP:0002359	Frequent falls	HP:0040283	ORPHA:254892
5428	POLG	HP:0002359	Frequent falls	2/7	OMIM:607459
5428	POLG	HP:0003688	Cytochrome C oxidase-negative muscle fibers	HP:0040282	ORPHA:254892
5428	POLG	HP:0003688	Cytochrome C oxidase-negative muscle fibers	-	OMIM:603041
5428	POLG	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1/1	OMIM:258450
5428	POLG	HP:0003688	Cytochrome C oxidase-negative muscle fibers	-	OMIM:157640
5428	POLG	HP:0003688	Cytochrome C oxidase-negative muscle fibers	3/7	OMIM:607459
5428	POLG	HP:0003688	Cytochrome C oxidase-negative muscle fibers	HP:0040282	ORPHA:254886
5428	POLG	HP:0003688	Cytochrome C oxidase-negative muscle fibers	2/2	OMIM:613662
5428	POLG	HP:0003689	Multiple mitochondrial DNA deletions	-	OMIM:157640
5428	POLG	HP:0003689	Multiple mitochondrial DNA deletions	2/2	OMIM:607459
5428	POLG	HP:0003689	Multiple mitochondrial DNA deletions	2/2	OMIM:613662
5428	POLG	HP:0003689	Multiple mitochondrial DNA deletions	0/1	OMIM:603041
5428	POLG	HP:0003689	Multiple mitochondrial DNA deletions	1/1	OMIM:258450
5428	POLG	HP:0002378	Hand tremor	1/2	OMIM:157640
5428	POLG	HP:0002375	Hypokinesia	HP:0040283	ORPHA:254892
5428	POLG	HP:0002376	Developmental regression	HP:0040282	ORPHA:726
5428	POLG	HP:0002376	Developmental regression	-	OMIM:203700
5428	POLG	HP:0002344	Progressive neurologic deterioration	HP:0040282	ORPHA:254881
5428	POLG	HP:0002345	Action tremor	HP:0040283	ORPHA:254886
5428	POLG	HP:0003676	Progressive	-	OMIM:613662
5428	POLG	HP:0003676	Progressive	-	OMIM:157640
5428	POLG	HP:0003676	Progressive	-	OMIM:603041
5428	POLG	HP:0003687	Centrally nucleated skeletal muscle fibers	1/7	OMIM:607459
5428	POLG	HP:0002354	Memory impairment	HP:0040283	ORPHA:70595
5428	POLG	HP:0002352	Leukoencephalopathy	-	OMIM:603041
5428	POLG	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:298
5428	POLG	HP:0003678	Rapidly progressive	-	OMIM:203700
5428	POLG	HP:0002322	Resting tremor	HP:0040282	ORPHA:254892
5428	POLG	HP:0002322	Resting tremor	-	OMIM:157640
5428	POLG	HP:0002315	Headache	HP:0040282	ORPHA:94125
5428	POLG	HP:0002313	Spastic paraparesis	HP:0040282	ORPHA:726
5428	POLG	HP:0100653	Optic neuritis	HP:0040283	ORPHA:254886
5428	POLG	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:94125
5428	POLG	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:298
5428	POLG	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:254892
5428	POLG	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:254886
5428	POLG	HP:0009830	Peripheral neuropathy	34/34	OMIM:603041
5428	POLG	HP:0100613	Death in early adulthood	-	OMIM:603041
5428	POLG	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:298
5428	POLG	HP:0007141	Sensorimotor neuropathy	1/1	OMIM:603041
5428	POLG	HP:0032155	Abdominal cramps	25/28	OMIM:603041
5428	POLG	HP:0007103	Hypointensity of cerebral white matter on MRI	-	OMIM:603041
5428	POLG	HP:0007108	Demyelinating peripheral neuropathy	HP:0040282	ORPHA:298
5428	POLG	HP:0003621	Juvenile onset	2/2	OMIM:613662
5428	POLG	HP:0003621	Juvenile onset	1/7	OMIM:607459
5428	POLG	HP:0003621	Juvenile onset	1/1	OMIM:603041
5428	POLG	HP:0006858	Impaired distal proprioception	-	OMIM:157640
5428	POLG	HP:0006858	Impaired distal proprioception	-	OMIM:607459
5428	POLG	HP:0006858	Impaired distal proprioception	-	OMIM:258450
5428	POLG	HP:0006858	Impaired distal proprioception	HP:0040282	ORPHA:70595
5428	POLG	HP:0006886	Impaired distal vibration sensation	-	OMIM:258450
5428	POLG	HP:0006886	Impaired distal vibration sensation	1/2	OMIM:157640
5428	POLG	HP:0006886	Impaired distal vibration sensation	-	OMIM:607459
5428	POLG	HP:0000640	Gaze-evoked nystagmus	HP:0040282	ORPHA:254881
5428	POLG	HP:0000639	Nystagmus	-	OMIM:607459
5428	POLG	HP:0000639	Nystagmus	HP:0040282	ORPHA:70595
5428	POLG	HP:0001962	Palpitations	HP:0040284	ORPHA:254892
5428	POLG	HP:0000651	Diplopia	1/1	OMIM:258450
5428	POLG	HP:0000651	Diplopia	1/2	OMIM:157640
5428	POLG	HP:0000651	Diplopia	1/1	OMIM:603041
5428	POLG	HP:0000649	Abnormality of visual evoked potentials	-	OMIM:203700
5428	POLG	HP:0000648	Optic atrophy	HP:0040283	OMIM:258450
5428	POLG	HP:0000648	Optic atrophy	HP:0040282	ORPHA:254881
5428	POLG	HP:0000648	Optic atrophy	HP:0040283	ORPHA:254886
5428	POLG	HP:0000618	Blindness	HP:0040283	ORPHA:726
5428	POLG	HP:0001946	Ketosis	HP:0040284	ORPHA:254892
5428	POLG	HP:0001952	Glucose intolerance	HP:0040283	ORPHA:254892
5428	POLG	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:254892
5428	POLG	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:94125
5428	POLG	HP:0001903	Anemia	HP:0040283	ORPHA:298
5428	POLG	HP:0012696	Abnormal thalamic MRI signal intensity	HP:0040282	ORPHA:70595
5428	POLG	HP:0012692	Focal T2 hyperintense thalamic lesion	HP:0040282	ORPHA:254881
5428	POLG	HP:0012664	Reduced left ventricular ejection fraction	HP:0040283	ORPHA:254892
5428	POLG	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:298
5428	POLG	HP:0004326	Cachexia	-	OMIM:603041
5428	POLG	HP:0004326	Cachexia	2/2	OMIM:613662
5428	POLG	HP:0004326	Cachexia	HP:0040281	ORPHA:298
5428	POLG	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:254892
5428	POLG	HP:0006964	Cerebral cortical neurodegeneration	-	OMIM:203700
5428	POLG	HP:0031987	Diminished ability to concentrate	-	OMIM:607459
5428	POLG	HP:0006937	Impaired distal tactile sensation	-	OMIM:607459
5428	POLG	HP:0004389	Intestinal pseudo-obstruction	-	OMIM:607459
5428	POLG	HP:0004389	Intestinal pseudo-obstruction	2/2	OMIM:613662
5428	POLG	HP:0004389	Intestinal pseudo-obstruction	11/17	OMIM:603041
5428	POLG	HP:0004389	Intestinal pseudo-obstruction	HP:0040283	ORPHA:70595
5428	POLG	HP:0004396	Poor appetite	HP:0040281	ORPHA:298
5428	POLG	HP:0004395	Malnutrition	-	OMIM:603041
5428	POLG	HP:0004395	Malnutrition	-	OMIM:613662
5428	POLG	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:94125
5428	POLG	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:726
5428	POLG	HP:0000739	Anxiety	HP:0040283	ORPHA:254892
5428	POLG	HP:0000739	Anxiety	HP:0040282	ORPHA:254881
5428	POLG	HP:0000716	Depression	1/7	OMIM:607459
5428	POLG	HP:0000716	Depression	HP:0040283	ORPHA:254892
5428	POLG	HP:0000716	Depression	-	OMIM:258450
5428	POLG	HP:0000716	Depression	HP:0040282	ORPHA:254881
5428	POLG	HP:0000716	Depression	HP:0040283	ORPHA:254886
5428	POLG	HP:0000716	Depression	-	OMIM:157640
5428	POLG	HP:0000716	Depression	HP:0040283	ORPHA:70595
5428	POLG	HP:0000712	Emotional lability	-	OMIM:258450
5428	POLG	HP:0000712	Emotional lability	1/7	OMIM:607459
5428	POLG	HP:0000726	Dementia	HP:0040284	ORPHA:298
5428	POLG	HP:0000726	Dementia	-	OMIM:203700
5428	POLG	HP:0000726	Dementia	1/7	OMIM:607459
5428	POLG	HP:0000726	Dementia	0/35	OMIM:603041
5428	POLG	HP:0000708	Atypical behavior	HP:0040282	ORPHA:94125
5428	POLG	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	2/2	OMIM:613662
5428	POLG	HP:0011463	Childhood onset	2/3	OMIM:203700
5428	POLG	HP:0011462	Young adult onset	1/1	OMIM:258450
5428	POLG	HP:0000786	Primary amenorrhea	-	OMIM:157640
5428	POLG	HP:0003198	Myopathy	-	OMIM:607459
5428	POLG	HP:0003198	Myopathy	HP:0040282	ORPHA:254892
5428	POLG	HP:0003198	Myopathy	HP:0040282	ORPHA:254881
5428	POLG	HP:0003198	Myopathy	HP:0040282	ORPHA:254886
5428	POLG	HP:0003199	Decreased muscle mass	HP:0040283	ORPHA:298
5428	POLG	HP:0034276	Elevated circulating thymidine concentration	1/1	OMIM:603041
5428	POLG	HP:0034277	Elevated circulating deoxyuridine concentration	1/1	OMIM:603041
5428	POLG	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:298
5428	POLG	HP:0003128	Lactic acidosis	-	OMIM:603041
5428	POLG	HP:0000872	Hashimoto thyroiditis	HP:0040282	ORPHA:94125
5428	POLG	HP:0012847	Epilepsia partialis continua	1/3	OMIM:203700
5428	POLG	HP:0012850	Small intestinal dysmotility	HP:0040281	ORPHA:298
5428	POLG	HP:0000853	Goiter	HP:0040284	ORPHA:254892
5428	POLG	HP:0000869	Secondary amenorrhea	1/1	OMIM:258450
5428	POLG	HP:0000869	Secondary amenorrhea	-	OMIM:157640
5428	POLG	HP:0000836	Hyperthyroidism	HP:0040284	ORPHA:254892
5428	POLG	HP:0000819	Diabetes mellitus	HP:0040284	ORPHA:254892
5428	POLG	HP:0000815	Hypergonadotropic hypogonadism	HP:0040283	ORPHA:298
5428	POLG	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:157640
5428	POLG	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:254892
5428	POLG	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:254892
5428	POLG	HP:0003236	Elevated circulating creatine kinase concentration	0/1	OMIM:258450
5428	POLG	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040284	ORPHA:254886
5428	POLG	HP:0003219	Ethylmalonic aciduria	-	OMIM:203700
5428	POLG	HP:0003202	Skeletal muscle atrophy	0/1	OMIM:258450
5428	POLG	HP:0003202	Skeletal muscle atrophy	-	OMIM:157640
5428	POLG	HP:0003202	Skeletal muscle atrophy	2/7	OMIM:607459
5428	POLG	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:254892
5428	POLG	HP:0003200	Ragged-red muscle fibers	-	OMIM:603041
5428	POLG	HP:0003200	Ragged-red muscle fibers	2/2	OMIM:258450
5428	POLG	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:70595
5428	POLG	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:254886
5428	POLG	HP:0003200	Ragged-red muscle fibers	2/2	OMIM:613662
5428	POLG	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:298
5428	POLG	HP:0003200	Ragged-red muscle fibers	-	OMIM:157640
5428	POLG	HP:0003200	Ragged-red muscle fibers	2/2	OMIM:607459
5428	POLG	HP:0003201	Rhabdomyolysis	-	OMIM:157640
5428	POLG	HP:0003270	Abdominal distention	HP:0040281	ORPHA:298
5428	POLG	HP:0003270	Abdominal distention	-	OMIM:613662
5428	POLG	HP:0000952	Jaundice	1/3	OMIM:203700
5428	POLG	HP:0000969	Edema	HP:0040284	ORPHA:254892
5428	POLG	HP:0000939	Osteoporosis	1/3	OMIM:203700
5428	POLG	HP:0000939	Osteoporosis	HP:0040284	ORPHA:254892
5428	POLG	HP:0100295	Muscle fiber atrophy	HP:0040283	ORPHA:254886
5428	POLG	HP:0100295	Muscle fiber atrophy	1/1	OMIM:258450
5428	POLG	HP:0008049	Abnormality of the extraocular muscles	HP:0040282	ORPHA:298
5428	POLG	HP:0011675	Arrhythmia	HP:0040283	ORPHA:254892
5428	POLG	HP:0000298	Mask-like facies	HP:0040282	ORPHA:254886
5428	POLG	HP:0012251	ST segment elevation	HP:0040282	ORPHA:94125
5428	POLG	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:254892
5428	POLG	HP:0000252	Microcephaly	HP:0040282	ORPHA:726
5428	POLG	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:254892
5428	POLG	HP:0001541	Ascites	2/3	OMIM:203700
5428	POLG	HP:0031358	Vegetative state	1/3	OMIM:203700
5428	POLG	HP:0001533	Slender build	-	OMIM:603041
5428	POLG	HP:0001533	Slender build	-	OMIM:613662
5428	POLG	HP:0031368	Intestinal perforation	-	OMIM:603041
5428	POLG	HP:0001508	Failure to thrive	HP:0040283	ORPHA:254892
5428	POLG	HP:0001508	Failure to thrive	-	OMIM:203700
5428	POLG	HP:0007824	Total ophthalmoplegia	1/2	OMIM:157640
5428	POLG	HP:0007814	Retinal pigment epithelial mottling	1/7	OMIM:607459
5428	POLG	HP:0012378	Fatigue	HP:0040282	ORPHA:254892
5428	POLG	HP:0012377	Hemianopia	HP:0040282	ORPHA:254881
5428	POLG	HP:0032860	Generalized non-convulsive status epilepticus without coma	1/3	OMIM:203700
5428	POLG	HP:0006554	Acute hepatic failure	2/3	OMIM:203700
5428	POLG	HP:0006554	Acute hepatic failure	HP:0040282	ORPHA:254881
5428	POLG	HP:0002936	Distal sensory impairment	HP:0040283	ORPHA:254886
5428	POLG	HP:0002936	Distal sensory impairment	-	OMIM:603041
5428	POLG	HP:0001618	Dysphonia	-	OMIM:258450
5428	POLG	HP:0001611	Hypernasal speech	2/7	OMIM:607459
5428	POLG	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:298
5428	POLG	HP:0002910	Elevated circulating hepatic transaminase concentration	1/3	OMIM:203700
5428	POLG	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040284	ORPHA:254892
5428	POLG	HP:0002922	Increased CSF protein concentration	-	OMIM:258450
5428	POLG	HP:0002922	Increased CSF protein concentration	-	OMIM:203700
5428	POLG	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:298
5428	POLG	HP:0002921	Abnormal cerebrospinal fluid morphology	HP:0040283	ORPHA:254886
5428	POLG	HP:0000365	Hearing impairment	HP:0040283	ORPHA:254892
5428	POLG	HP:0000365	Hearing impairment	HP:0040283	ORPHA:254886
5428	POLG	HP:0000365	Hearing impairment	HP:0040283	OMIM:613662
5428	POLG	HP:0031422	Abnormal cerebellar cortex morphology	HP:0040282	ORPHA:70595
5428	POLG	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040282	ORPHA:298
5428	POLG	HP:0000338	Hypomimic face	HP:0040282	ORPHA:254892
5428	POLG	HP:0001644	Dilated cardiomyopathy	-	OMIM:607459
5428	POLG	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:254892
5428	POLG	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:70595
5428	POLG	HP:0030143	Hyperactive bowel sounds	24/25	OMIM:603041
5428	POLG	HP:0001653	Mitral regurgitation	-	OMIM:258450
5428	POLG	HP:0001653	Mitral regurgitation	2/7	OMIM:607459
5428	POLG	HP:0001621	Weak voice	HP:0040283	ORPHA:254886
5428	POLG	HP:0001638	Cardiomyopathy	HP:0040283	OMIM:258450
5428	POLG	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:254886
5428	POLG	HP:0001634	Mitral valve prolapse	-	OMIM:258450
5428	POLG	HP:0001634	Mitral valve prolapse	3/7	OMIM:607459
5428	POLG	HP:0030319	Weakness of facial musculature	1/1	OMIM:258450
5428	POLG	HP:0030319	Weakness of facial musculature	1/7	OMIM:607459
5428	POLG	HP:0011166	Focal myoclonic seizure	1/3	OMIM:203700
5428	POLG	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:258450
5428	POLG	HP:0000407	Sensorineural hearing impairment	1/7	OMIM:607459
5428	POLG	HP:0000407	Sensorineural hearing impairment	14/31	OMIM:603041
5428	POLG	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:298
5428	POLG	HP:0000407	Sensorineural hearing impairment	-	OMIM:157640
5428	POLG	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:254892
5428	POLG	HP:0000479	Abnormal retinal morphology	HP:0040283	ORPHA:254886
5428	POLG	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:726
5428	POLG	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:254892
5428	POLG	HP:0030237	Hand muscle weakness	HP:0040283	ORPHA:254886
5428	POLG	HP:0025722	Cerebral infarct	HP:0040282	ORPHA:254881
5428	POLG	HP:0001751	Abnormal vestibular function	HP:0040282	ORPHA:70595
5428	POLG	HP:0001751	Abnormal vestibular function	1/7	OMIM:607459
5428	POLG	HP:0025710	Late young adult onset	1/2	OMIM:157640
5428	POLG	HP:0001761	Pes cavus	0/1	OMIM:258450
5428	POLG	HP:0001761	Pes cavus	-	OMIM:157640
5428	POLG	HP:0001761	Pes cavus	1/7	OMIM:607459
5428	POLG	HP:0025708	Early young adult onset	1/1	OMIM:607459
5428	POLG	HP:0000518	Cataract	HP:0040283	ORPHA:254892
5428	POLG	HP:0000518	Cataract	-	OMIM:157640
5428	POLG	HP:0000518	Cataract	HP:0040283	OMIM:607459
5428	POLG	HP:0000518	Cataract	HP:0040283	ORPHA:70595
5428	POLG	HP:0001824	Weight loss	HP:0040282	ORPHA:298
5428	POLG	HP:0001824	Weight loss	-	OMIM:613662
5428	POLG	HP:0001824	Weight loss	2/7	OMIM:607459
5428	POLG	HP:0001824	Weight loss	20/20	OMIM:603041
5428	POLG	HP:0000508	Ptosis	HP:0040281	ORPHA:254892
5428	POLG	HP:0000508	Ptosis	-	OMIM:258450
5428	POLG	HP:0000508	Ptosis	HP:0040282	ORPHA:254881
5428	POLG	HP:0000508	Ptosis	HP:0040283	ORPHA:254886
5428	POLG	HP:0000508	Ptosis	6/7	OMIM:607459
5428	POLG	HP:0000508	Ptosis	35/35	OMIM:603041
5428	POLG	HP:0000508	Ptosis	HP:0040282	ORPHA:70595
5428	POLG	HP:0000508	Ptosis	HP:0040282	ORPHA:298
5428	POLG	HP:0000508	Ptosis	1/2	OMIM:157640
5428	POLG	HP:0000505	Visual impairment	HP:0040283	ORPHA:254892
5428	POLG	HP:0000505	Visual impairment	HP:0040283	OMIM:258450
5428	POLG	HP:0000505	Visual impairment	HP:0040283	ORPHA:254886
5428	POLG	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:726
5428	POLG	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:254892
5428	POLG	HP:0000597	Ophthalmoparesis	35/35	OMIM:603041
5428	POLG	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:70595
5428	POLG	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:254881
5428	POLG	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:298
5428	POLG	HP:0000597	Ophthalmoparesis	1/7	OMIM:607459
5428	POLG	HP:0000590	Progressive external ophthalmoplegia	11/11	OMIM:603041
5428	POLG	HP:0000590	Progressive external ophthalmoplegia	3/3	OMIM:258450
5428	POLG	HP:0000590	Progressive external ophthalmoplegia	-	OMIM:157640
5428	POLG	HP:0000590	Progressive external ophthalmoplegia	1/1	OMIM:607459
5428	POLG	HP:0000590	Progressive external ophthalmoplegia	2/2	OMIM:613662
5428	POLG	HP:0000572	Visual loss	-	OMIM:203700
5428	POLG	HP:0012533	Allodynia	1/1	OMIM:603041
5428	POLG	HP:0000565	Esotropia	1/1	OMIM:258450
5428	POLG	HP:0000544	External ophthalmoplegia	HP:0040281	ORPHA:298
5428	POLG	HP:0000544	External ophthalmoplegia	HP:0040281	ORPHA:254892
5428	POLG	HP:0000544	External ophthalmoplegia	6/7	OMIM:607459
5428	POLG	HP:0000544	External ophthalmoplegia	HP:0040282	ORPHA:254886
5429	POLH	HP:0012056	Cutaneous melanoma	0/10	OMIM:278750
5429	POLH	HP:0002671	Basal cell carcinoma	2/10	OMIM:278750
5429	POLH	HP:0002671	Basal cell carcinoma	HP:0040282	ORPHA:90342
5429	POLH	HP:0000007	Autosomal recessive inheritance	-	OMIM:278750
5429	POLH	HP:0007603	Freckles in sun-exposed areas	10/10	OMIM:278750
5429	POLH	HP:0007603	Freckles in sun-exposed areas	HP:0040281	ORPHA:90342
5429	POLH	HP:0003593	Infantile onset	1/1	OMIM:278750
5429	POLH	HP:0034697	Cutaneous telangiectasia	1/1	OMIM:278750
5429	POLH	HP:0001029	Poikiloderma	HP:0040281	ORPHA:90342
5429	POLH	HP:0001029	Poikiloderma	-	OMIM:278750
5429	POLH	HP:0001010	Hypopigmentation of the skin	HP:0040281	ORPHA:90342
5429	POLH	HP:0001009	Telangiectasia	HP:0040282	ORPHA:90342
5429	POLH	HP:0000613	Photophobia	HP:0040282	ORPHA:90342
5429	POLH	HP:0000613	Photophobia	-	OMIM:278750
5429	POLH	HP:0000621	Entropion	-	OMIM:278750
5429	POLH	HP:0000656	Ectropion	-	OMIM:278750
5429	POLH	HP:0004334	Dermal atrophy	-	OMIM:278750
5429	POLH	HP:0004334	Dermal atrophy	HP:0040282	ORPHA:90342
5429	POLH	HP:0000992	Cutaneous photosensitivity	1/1	OMIM:278750
5429	POLH	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:90342
5429	POLH	HP:0000958	Dry skin	HP:0040282	ORPHA:90342
5429	POLH	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:90342
5429	POLH	HP:0000252	Microcephaly	0/1	OMIM:278750
5429	POLH	HP:0002861	Melanoma	HP:0040282	ORPHA:90342
5429	POLH	HP:0002860	Squamous cell carcinoma	4/10	OMIM:278750
5429	POLH	HP:0002860	Squamous cell carcinoma	HP:0040282	ORPHA:90342
5429	POLH	HP:0001510	Growth delay	0/1	OMIM:278750
5429	POLH	HP:0000491	Keratitis	-	OMIM:278750
5429	POLH	HP:0000491	Keratitis	HP:0040282	ORPHA:90342
5429	POLH	HP:0000509	Conjunctivitis	-	OMIM:278750
5430	POLR2A	HP:0002453	Abnormal globus pallidus morphology	2/16	OMIM:618603
5430	POLR2A	HP:0007281	Developmental stagnation	4/15	OMIM:618603
5430	POLR2A	HP:0001290	Generalized hypotonia	14/15	OMIM:618603
5430	POLR2A	HP:0001274	Agenesis of corpus callosum	1/16	OMIM:618603
5430	POLR2A	HP:0001250	Seizure	3/15	OMIM:618603
5430	POLR2A	HP:0025352	Typically de novo	-	OMIM:618603
5430	POLR2A	HP:0025336	Delayed ability to sit	-	OMIM:618603
5430	POLR2A	HP:0000023	Inguinal hernia	4/15	OMIM:618603
5430	POLR2A	HP:0001357	Plagiocephaly	5/16	OMIM:618603
5430	POLR2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:618603
5430	POLR2A	HP:0031139	Frog-leg posture	10/15	OMIM:618603
5430	POLR2A	HP:0000175	Cleft palate	1/14	OMIM:618603
5430	POLR2A	HP:0002020	Gastroesophageal reflux	6/14	OMIM:618603
5430	POLR2A	HP:0002079	Hypoplasia of the corpus callosum	2/16	OMIM:618603
5430	POLR2A	HP:0002119	Ventriculomegaly	5/16	OMIM:618603
5430	POLR2A	HP:0002188	Delayed CNS myelination	5/16	OMIM:618603
5430	POLR2A	HP:0003546	Exercise intolerance	10/14	OMIM:618603
5430	POLR2A	HP:0002205	Recurrent respiratory infections	8/14	OMIM:618603
5430	POLR2A	HP:0002280	Enlarged cisterna magna	1/16	OMIM:618603
5430	POLR2A	HP:0011968	Feeding difficulties	10/14	OMIM:618603
5430	POLR2A	HP:0002360	Sleep abnormality	6/14	OMIM:618603
5430	POLR2A	HP:0000692	Tooth malposition	5/16	OMIM:618603
5430	POLR2A	HP:0031936	Delayed ability to walk	-	OMIM:618603
5430	POLR2A	HP:0000767	Pectus excavatum	3/15	OMIM:618603
5430	POLR2A	HP:0000729	Autistic behavior	4/14	OMIM:618603
5430	POLR2A	HP:0003202	Skeletal muscle atrophy	4/15	OMIM:618603
5430	POLR2A	HP:0000252	Microcephaly	5/16	OMIM:618603
5430	POLR2A	HP:0000248	Brachycephaly	5/16	OMIM:618603
5430	POLR2A	HP:0000218	High palate	5/14	OMIM:618603
5430	POLR2A	HP:0001558	Decreased fetal movement	3/15	OMIM:618603
5430	POLR2A	HP:0001508	Failure to thrive	3/15	OMIM:618603
5430	POLR2A	HP:0000348	High forehead	7/14	OMIM:618603
5430	POLR2A	HP:0000316	Hypertelorism	6/16	OMIM:618603
5430	POLR2A	HP:0000486	Strabismus	11/15	OMIM:618603
5430	POLR2A	HP:0000505	Visual impairment	5/15	OMIM:618603
5442	POLRMT	HP:0003701	Proximal muscle weakness	1/8	OMIM:619743
5442	POLRMT	HP:0001252	Hypotonia	4/8	OMIM:619743
5442	POLRMT	HP:0001249	Intellectual disability	3/8	OMIM:619743
5442	POLRMT	HP:0001263	Global developmental delay	3/8	OMIM:619743
5442	POLRMT	HP:0007359	Focal-onset seizure	1/8	OMIM:619743
5442	POLRMT	HP:0033725	Thin corpus callosum	1/8	OMIM:619743
5442	POLRMT	HP:0001324	Muscle weakness	1/8	OMIM:619743
5442	POLRMT	HP:0001344	Absent speech	2/8	OMIM:619743
5442	POLRMT	HP:0000007	Autosomal recessive inheritance	-	OMIM:619743
5442	POLRMT	HP:0000006	Autosomal dominant inheritance	-	OMIM:619743
5442	POLRMT	HP:0000194	Open mouth	1/8	OMIM:619743
5442	POLRMT	HP:0001488	Bilateral ptosis	2/8	OMIM:619743
5442	POLRMT	HP:0000114	Proximal tubulopathy	1/8	OMIM:619743
5442	POLRMT	HP:0002019	Constipation	1/8	OMIM:619743
5442	POLRMT	HP:0008180	Mildly elevated creatine kinase	1/8	OMIM:619743
5442	POLRMT	HP:0002151	Increased circulating lactate concentration	2/8	OMIM:619743
5442	POLRMT	HP:0002148	Hypophosphatemia	1/8	OMIM:619743
5442	POLRMT	HP:0002119	Ventriculomegaly	1/8	OMIM:619743
5442	POLRMT	HP:0010602	Type 2 muscle fiber predominance	1/8	OMIM:619743
5442	POLRMT	HP:0003596	Middle age onset	2/8	OMIM:619743
5442	POLRMT	HP:0003593	Infantile onset	2/8	OMIM:619743
5442	POLRMT	HP:0004912	Hypophosphatemic rickets	1/8	OMIM:619743
5442	POLRMT	HP:0012625	Stage 3 chronic kidney disease	1/8	OMIM:619743
5442	POLRMT	HP:0000601	Hypotelorism	1/8	OMIM:619743
5442	POLRMT	HP:0001903	Anemia	1/8	OMIM:619743
5442	POLRMT	HP:0011344	Severe global developmental delay	1/8	OMIM:619743
5442	POLRMT	HP:0011342	Mild global developmental delay	1/8	OMIM:619743
5442	POLRMT	HP:0001992	Organic aciduria	1/8	OMIM:619743
5442	POLRMT	HP:0001994	Renal Fanconi syndrome	1/8	OMIM:619743
5442	POLRMT	HP:0004322	Short stature	4/8	OMIM:619743
5442	POLRMT	HP:0000805	Enuresis	1/8	OMIM:619743
5442	POLRMT	HP:0000750	Delayed speech and language development	1/8	OMIM:619743
5442	POLRMT	HP:0012707	Elevated brain lactate level by MRS	1/8	OMIM:619743
5442	POLRMT	HP:0011463	Childhood onset	3/8	OMIM:619743
5442	POLRMT	HP:0011462	Young adult onset	1/8	OMIM:619743
5442	POLRMT	HP:0003198	Myopathy	3/8	OMIM:619743
5442	POLRMT	HP:0003236	Elevated circulating creatine kinase concentration	1/8	OMIM:619743
5442	POLRMT	HP:0003202	Skeletal muscle atrophy	1/8	OMIM:619743
5442	POLRMT	HP:0000954	Single transverse palmar crease	1/8	OMIM:619743
5442	POLRMT	HP:0000286	Epicanthus	1/8	OMIM:619743
5442	POLRMT	HP:0005101	High-frequency hearing impairment	1/8	OMIM:619743
5442	POLRMT	HP:0000252	Microcephaly	2/8	OMIM:619743
5442	POLRMT	HP:0000218	High palate	1/8	OMIM:619743
5442	POLRMT	HP:0002917	Hypomagnesemia	1/8	OMIM:619743
5442	POLRMT	HP:0002970	Genu varum	1/8	OMIM:619743
5442	POLRMT	HP:0005280	Depressed nasal bridge	1/8	OMIM:619743
5442	POLRMT	HP:0000486	Strabismus	2/8	OMIM:619743
5442	POLRMT	HP:0000463	Anteverted nares	1/8	OMIM:619743
5442	POLRMT	HP:0012408	Medullary nephrocalcinosis	1/8	OMIM:619743
5442	POLRMT	HP:0001762	Talipes equinovarus	1/8	OMIM:619743
5442	POLRMT	HP:0000577	Exotropia	2/8	OMIM:619743
5442	POLRMT	HP:0000590	Progressive external ophthalmoplegia	1/8	OMIM:619743
5442	POLRMT	HP:0000592	Blue sclerae	1/8	OMIM:619743
5442	POLRMT	HP:0001873	Thrombocytopenia	1/8	OMIM:619743
5443	POMC	HP:0033579	Decreased growth hormone responses to growth hormone-releasing hormone challenge	1/2	OMIM:609734
5443	POMC	HP:0002591	Polyphagia	HP:0040281	ORPHA:71526
5443	POMC	HP:0002591	Polyphagia	1/2	OMIM:609734
5443	POMC	HP:0010982	Polygenic inheritance	-	OMIM:601665
5443	POMC	HP:0001396	Cholestasis	HP:0040282	ORPHA:71526
5443	POMC	HP:0001396	Cholestasis	-	OMIM:609734
5443	POMC	HP:0000007	Autosomal recessive inheritance	-	OMIM:609734
5443	POMC	HP:0000007	Autosomal recessive inheritance	-	OMIM:601665
5443	POMC	HP:0000006	Autosomal dominant inheritance	-	OMIM:601665
5443	POMC	HP:0008915	Childhood-onset truncal obesity	HP:0040282	ORPHA:71526
5443	POMC	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:71526
5443	POMC	HP:0011748	Adrenocorticotropic hormone deficiency	2/2	OMIM:609734
5443	POMC	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:71526
5443	POMC	HP:0008163	Decreased circulating cortisol level	2/2	OMIM:609734
5443	POMC	HP:0002173	Hypoglycemic seizures	HP:0040283	ORPHA:71526
5443	POMC	HP:0002173	Hypoglycemic seizures	-	OMIM:609734
5443	POMC	HP:0008245	Pituitary hypothyroidism	HP:0040283	ORPHA:71526
5443	POMC	HP:0008213	Gonadotropin deficiency	-	OMIM:609734
5443	POMC	HP:0008213	Gonadotropin deficiency	HP:0040283	ORPHA:71526
5443	POMC	HP:0003593	Infantile onset	1/2	OMIM:609734
5443	POMC	HP:0002297	Red hair	2/2	OMIM:609734
5443	POMC	HP:0002297	Red hair	HP:0040282	ORPHA:71526
5443	POMC	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:71526
5443	POMC	HP:0003623	Neonatal onset	1/2	OMIM:609734
5443	POMC	HP:0031819	Increased waist to hip ratio	-	OMIM:601665
5443	POMC	HP:0009126	Increased adipose tissue	HP:0040280	ORPHA:71526
5443	POMC	HP:0000835	Adrenal hypoplasia	-	OMIM:609734
5443	POMC	HP:0000846	Adrenal insufficiency	-	OMIM:609734
5443	POMC	HP:0000842	Hyperinsulinemia	HP:0040283	ORPHA:71526
5443	POMC	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:71526
5443	POMC	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040284	OMIM:609734
5443	POMC	HP:0000823	Delayed puberty	HP:0040283	ORPHA:71526
5443	POMC	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:71526
5443	POMC	HP:0001508	Failure to thrive	HP:0040283	ORPHA:71526
5443	POMC	HP:0001510	Growth delay	HP:0040283	ORPHA:71526
5443	POMC	HP:0001513	Obesity	HP:0040280	ORPHA:71526
5443	POMC	HP:0001513	Obesity	2/2	OMIM:609734
5443	POMC	HP:0001513	Obesity	-	OMIM:601665
5443	POMC	HP:0002904	Hyperbilirubinemia	-	OMIM:609734
5443	POMC	HP:0012340	Decreased resting energy expenditure	-	OMIM:601665
5444	PON1	HP:0002463	Language impairment	HP:0040283	ORPHA:803
5444	PON1	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
5444	PON1	HP:0001257	Spasticity	HP:0040282	ORPHA:803
5444	PON1	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
5444	PON1	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
5444	PON1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
5444	PON1	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
5444	PON1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
5444	PON1	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
5444	PON1	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
5444	PON1	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
5444	PON1	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
5444	PON1	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
5444	PON1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
5444	PON1	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
5444	PON1	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
5444	PON1	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
5444	PON1	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
5444	PON1	HP:0003470	Paralysis	HP:0040282	ORPHA:803
5444	PON1	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
5444	PON1	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
5444	PON1	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
5444	PON1	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
5444	PON1	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
5444	PON1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
5444	PON1	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
5444	PON1	HP:0002307	Drooling	HP:0040282	ORPHA:803
5444	PON1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
5444	PON1	HP:0004326	Cachexia	HP:0040283	ORPHA:803
5444	PON1	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
5444	PON1	HP:0000739	Anxiety	HP:0040282	ORPHA:803
5444	PON1	HP:0000716	Depression	HP:0040282	ORPHA:803
5444	PON1	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
5444	PON1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
5444	PON1	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
5444	PON1	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
5444	PON1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
5444	PON1	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
5444	PON1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
5444	PON1	HP:0012378	Fatigue	HP:0040282	ORPHA:803
5444	PON1	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
5444	PON1	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
5444	PON1	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
5444	PON1	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
5444	PON1	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
5444	PON1	HP:0001824	Weight loss	HP:0040282	ORPHA:803
5444	PON1	HP:0012531	Pain	HP:0040282	ORPHA:803
5445	PON2	HP:0002463	Language impairment	HP:0040283	ORPHA:803
5445	PON2	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
5445	PON2	HP:0001257	Spasticity	HP:0040282	ORPHA:803
5445	PON2	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
5445	PON2	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
5445	PON2	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
5445	PON2	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
5445	PON2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
5445	PON2	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
5445	PON2	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
5445	PON2	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
5445	PON2	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
5445	PON2	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
5445	PON2	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
5445	PON2	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
5445	PON2	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
5445	PON2	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
5445	PON2	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
5445	PON2	HP:0003470	Paralysis	HP:0040282	ORPHA:803
5445	PON2	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
5445	PON2	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
5445	PON2	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
5445	PON2	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
5445	PON2	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
5445	PON2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
5445	PON2	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
5445	PON2	HP:0002307	Drooling	HP:0040282	ORPHA:803
5445	PON2	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
5445	PON2	HP:0004326	Cachexia	HP:0040283	ORPHA:803
5445	PON2	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
5445	PON2	HP:0000739	Anxiety	HP:0040282	ORPHA:803
5445	PON2	HP:0000716	Depression	HP:0040282	ORPHA:803
5445	PON2	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
5445	PON2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
5445	PON2	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
5445	PON2	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
5445	PON2	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
5445	PON2	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
5445	PON2	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
5445	PON2	HP:0012378	Fatigue	HP:0040282	ORPHA:803
5445	PON2	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
5445	PON2	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
5445	PON2	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
5445	PON2	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
5445	PON2	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
5445	PON2	HP:0001824	Weight loss	HP:0040282	ORPHA:803
5445	PON2	HP:0012531	Pain	HP:0040282	ORPHA:803
5446	PON3	HP:0002463	Language impairment	HP:0040283	ORPHA:803
5446	PON3	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
5446	PON3	HP:0001257	Spasticity	HP:0040282	ORPHA:803
5446	PON3	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
5446	PON3	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
5446	PON3	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
5446	PON3	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
5446	PON3	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
5446	PON3	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
5446	PON3	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
5446	PON3	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
5446	PON3	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
5446	PON3	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
5446	PON3	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
5446	PON3	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
5446	PON3	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
5446	PON3	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
5446	PON3	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
5446	PON3	HP:0003470	Paralysis	HP:0040282	ORPHA:803
5446	PON3	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
5446	PON3	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
5446	PON3	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
5446	PON3	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
5446	PON3	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
5446	PON3	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
5446	PON3	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
5446	PON3	HP:0002307	Drooling	HP:0040282	ORPHA:803
5446	PON3	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
5446	PON3	HP:0004326	Cachexia	HP:0040283	ORPHA:803
5446	PON3	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
5446	PON3	HP:0000739	Anxiety	HP:0040282	ORPHA:803
5446	PON3	HP:0000716	Depression	HP:0040282	ORPHA:803
5446	PON3	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
5446	PON3	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
5446	PON3	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
5446	PON3	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
5446	PON3	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
5446	PON3	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
5446	PON3	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
5446	PON3	HP:0012378	Fatigue	HP:0040282	ORPHA:803
5446	PON3	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
5446	PON3	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
5446	PON3	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
5446	PON3	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
5446	PON3	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
5446	PON3	HP:0001824	Weight loss	HP:0040282	ORPHA:803
5446	PON3	HP:0012531	Pain	HP:0040282	ORPHA:803
5447	POR	HP:0001176	Large hands	1/3	OMIM:201750
5447	POR	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:95699
5447	POR	HP:0001156	Brachydactyly	HP:0040283	ORPHA:95699
5447	POR	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:95699
5447	POR	HP:0001166	Arachnodactyly	-	OMIM:207410
5447	POR	HP:0001166	Arachnodactyly	2/3	OMIM:201750
5447	POR	HP:0010946	Dilatation of the renal pelvis	HP:0040284	ORPHA:95699
5447	POR	HP:0001195	Single umbilical artery	20/20	OMIM:201750
5447	POR	HP:0020206	Simple ear	-	OMIM:201750
5447	POR	HP:0010862	Delayed fine motor development	HP:0040283	ORPHA:95699
5447	POR	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5447	POR	HP:0001293	Cranial nerve compression	-	OMIM:131300
5447	POR	HP:0001252	Hypotonia	2/7	OMIM:615777
5447	POR	HP:0001249	Intellectual disability	-	OMIM:207410
5447	POR	HP:0001249	Intellectual disability	5/7	OMIM:615777
5447	POR	HP:0001263	Global developmental delay	-	OMIM:615777
5447	POR	HP:0006118	Shortening of all distal phalanges of the fingers	HP:0040283	ORPHA:95699
5447	POR	HP:0032362	Increased circulating corticosterone level	HP:0040283	ORPHA:95699
5447	POR	HP:0031065	Abnormal ovarian morphology	HP:0040282	ORPHA:95699
5447	POR	HP:0031074	Abnormal response to ACTH stimulation test	HP:0040281	ORPHA:95699
5447	POR	HP:0031083	Abnormal response to human chorionic gonadotrophin stimulation test	HP:0040282	ORPHA:95699
5447	POR	HP:0008675	Enlarged polycystic ovaries	HP:0040283	ORPHA:95699
5447	POR	HP:0008665	Clitoral hypertrophy	1/3	OMIM:201750
5447	POR	HP:0002515	Waddling gait	54/102	OMIM:131300
5447	POR	HP:0003826	Stillbirth	HP:0040283	ORPHA:95699
5447	POR	HP:0000085	Horseshoe kidney	-	OMIM:201750
5447	POR	HP:0000066	Labial hypoplasia	-	OMIM:201750
5447	POR	HP:0000062	Ambiguous genitalia	-	OMIM:613571
5447	POR	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:95699
5447	POR	HP:0000062	Ambiguous genitalia	HP:0040283	OMIM:201750
5447	POR	HP:0000063	Fused labia minora	-	OMIM:207410
5447	POR	HP:0000059	Hypoplastic labia majora	-	OMIM:207410
5447	POR	HP:0000076	Vesicoureteral reflux	HP:0040284	ORPHA:95699
5447	POR	HP:0000079	Abnormality of the urinary system	HP:0040284	ORPHA:95699
5447	POR	HP:0000046	Small scrotum	-	OMIM:201750
5447	POR	HP:0001377	Limited elbow extension	HP:0040282	ORPHA:95699
5447	POR	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:95699
5447	POR	HP:0001371	Flexion contracture	HP:0040283	ORPHA:95699
5447	POR	HP:0001371	Flexion contracture	-	OMIM:207410
5447	POR	HP:0000041	Chordee	-	OMIM:201750
5447	POR	HP:0000055	Abnormal female external genitalia morphology	HP:0040282	ORPHA:95699
5447	POR	HP:0000054	Micropenis	HP:0040283	ORPHA:95699
5447	POR	HP:0000054	Micropenis	-	OMIM:201750
5447	POR	HP:0001382	Joint hypermobility	-	OMIM:615777
5447	POR	HP:0033812	Decreased circulating androstenedione concentration	1/3	OMIM:201750
5447	POR	HP:0000048	Bifid scrotum	-	OMIM:201750
5447	POR	HP:0000047	Hypospadias	HP:0040283	ORPHA:95699
5447	POR	HP:0000047	Hypospadias	-	OMIM:201750
5447	POR	HP:0002676	Cloverleaf skull	-	OMIM:201750
5447	POR	HP:0000032	Abnormal male external genitalia morphology	HP:0040282	ORPHA:95699
5447	POR	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:95699
5447	POR	HP:0001363	Craniosynostosis	2/3	OMIM:201750
5447	POR	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5447	POR	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:95699
5447	POR	HP:0000028	Cryptorchidism	-	OMIM:201750
5447	POR	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5447	POR	HP:0031187	Abnormal circulating pregnenolone concentration	HP:0040282	ORPHA:95699
5447	POR	HP:0007466	Midfrontal capillary hemangioma	HP:0040284	ORPHA:95699
5447	POR	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5447	POR	HP:0001324	Muscle weakness	40/96	OMIM:131300
5447	POR	HP:0000013	Hypoplasia of the uterus	1/3	OMIM:201750
5447	POR	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5447	POR	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5447	POR	HP:0000007	Autosomal recessive inheritance	-	OMIM:201750
5447	POR	HP:0000007	Autosomal recessive inheritance	-	OMIM:613571
5447	POR	HP:0000006	Autosomal dominant inheritance	-	OMIM:207410
5447	POR	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5447	POR	HP:0002650	Scoliosis	HP:0040283	ORPHA:95699
5447	POR	HP:0002650	Scoliosis	11/13	OMIM:201750
5447	POR	HP:0002650	Scoliosis	12/14	OMIM:131300
5447	POR	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5447	POR	HP:0031100	Decreased circulating inhibin B concentration	HP:0040283	ORPHA:95699
5447	POR	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5447	POR	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5447	POR	HP:0025486	Fused labia majora	1/3	OMIM:201750
5447	POR	HP:0025486	Fused labia majora	HP:0040283	ORPHA:95699
5447	POR	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5447	POR	HP:0000160	Narrow mouth	HP:0040283	ORPHA:95699
5447	POR	HP:0000175	Cleft palate	2/7	OMIM:615777
5447	POR	HP:0000144	Decreased fertility	HP:0040282	ORPHA:95699
5447	POR	HP:0025436	Elevated serum 11-deoxycortisol	1/3	OMIM:201750
5447	POR	HP:0000138	Ovarian cyst	1/3	OMIM:201750
5447	POR	HP:0000147	Polycystic ovaries	-	OMIM:201750
5447	POR	HP:0000147	Polycystic ovaries	HP:0040282	ORPHA:95699
5447	POR	HP:0000148	Vaginal atresia	-	OMIM:207410
5447	POR	HP:0002705	High, narrow palate	HP:0040283	ORPHA:95699
5447	POR	HP:0000122	Unilateral renal agenesis	HP:0040284	ORPHA:95699
5447	POR	HP:0002780	Bronchomalacia	-	OMIM:201750
5447	POR	HP:0002781	Upper airway obstruction	-	OMIM:207410
5447	POR	HP:0001440	Metatarsal synostosis	HP:0040283	ORPHA:95699
5447	POR	HP:0031213	Elevated circulating 17-hydroxyprogesterone concentration	1/1	OMIM:201750
5447	POR	HP:0031213	Elevated circulating 17-hydroxyprogesterone concentration	HP:0040282	ORPHA:95699
5447	POR	HP:0031214	Decreased circulating dehydroepiandrosterone concentration	1/3	OMIM:201750
5447	POR	HP:0031215	Decreased circulating dehydroepiandrosterone-sulfate concentration	HP:0040282	ORPHA:95699
5447	POR	HP:0031216	Increased circulating progesterone	1/3	OMIM:201750
5447	POR	HP:0031216	Increased circulating progesterone	HP:0040282	ORPHA:95699
5447	POR	HP:0032569	Temporal bossing	-	OMIM:201750
5447	POR	HP:0003351	Decreased circulating renin concentration	1/3	OMIM:201750
5447	POR	HP:0002020	Gastroesophageal reflux	HP:0040284	ORPHA:95699
5447	POR	HP:0002019	Constipation	HP:0040284	ORPHA:95699
5447	POR	HP:0002007	Frontal bossing	HP:0040283	ORPHA:95699
5447	POR	HP:0002007	Frontal bossing	-	OMIM:201750
5447	POR	HP:0002007	Frontal bossing	-	OMIM:207410
5447	POR	HP:0011800	Midface retrusion	HP:0040283	ORPHA:95699
5447	POR	HP:0011800	Midface retrusion	1/3	OMIM:201750
5447	POR	HP:0011800	Midface retrusion	-	OMIM:207410
5447	POR	HP:0003388	Easy fatigability	36/76	OMIM:131300
5447	POR	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5447	POR	HP:0040253	Increased size of the clitoris	HP:0040283	ORPHA:95699
5447	POR	HP:0005913	Abnormal metacarpal epiphysis morphology	HP:0040283	ORPHA:95699
5447	POR	HP:0008163	Decreased circulating cortisol level	1/3	OMIM:201750
5447	POR	HP:0008163	Decreased circulating cortisol level	HP:0040282	ORPHA:95699
5447	POR	HP:0009473	Joint contracture of the hand	-	OMIM:201750
5447	POR	HP:0003468	Abnormal vertebral morphology	HP:0040283	ORPHA:95699
5447	POR	HP:0002153	Hyperkalemia	1/3	OMIM:201750
5447	POR	HP:0011911	Abnormal metacarpophalangeal joint morphology	HP:0040283	ORPHA:95699
5447	POR	HP:0008258	Congenital adrenal hyperplasia	-	OMIM:613571
5447	POR	HP:0008233	Decreased circulating progesterone	-	OMIM:201750
5447	POR	HP:0008232	Elevated circulating follicle stimulating hormone level	HP:0040283	ORPHA:95699
5447	POR	HP:0008221	Adrenal hyperplasia	HP:0040282	ORPHA:95699
5447	POR	HP:0008214	Decreased serum estradiol	HP:0040282	ORPHA:95699
5447	POR	HP:0009738	Abnormal antihelix morphology	HP:0040283	ORPHA:95699
5447	POR	HP:0009702	Carpal synostosis	-	OMIM:201750
5447	POR	HP:0009701	Metacarpal synostosis	HP:0040283	ORPHA:95699
5447	POR	HP:0008368	Tarsal synostosis	-	OMIM:201750
5447	POR	HP:0008368	Tarsal synostosis	HP:0040284	ORPHA:95699
5447	POR	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040283	ORPHA:95699
5447	POR	HP:0003510	Severe short stature	7/7	OMIM:615777
5447	POR	HP:0001007	Hirsutism	HP:0040282	ORPHA:95699
5447	POR	HP:0002315	Headache	-	OMIM:131300
5447	POR	HP:0004976	Knee dislocation	6/7	OMIM:615777
5447	POR	HP:0009803	Short phalanx of finger	-	OMIM:615777
5447	POR	HP:0009763	Limb pain	63/92	OMIM:131300
5447	POR	HP:0002308	Chiari malformation	-	OMIM:201750
5447	POR	HP:0002308	Chiari malformation	HP:0040284	ORPHA:95699
5447	POR	HP:0003621	Juvenile onset	-	OMIM:131300
5447	POR	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5447	POR	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5447	POR	HP:6001056	Out-toeing	-	OMIM:131300
5447	POR	HP:0000651	Diplopia	-	OMIM:131300
5447	POR	HP:0001943	Hypoglycemia	1/3	OMIM:201750
5447	POR	HP:0001956	Truncal obesity	2/7	OMIM:615777
5447	POR	HP:0001903	Anemia	HP:0040283	OMIM:131300
5447	POR	HP:0010049	Short metacarpal	HP:0040283	ORPHA:95699
5447	POR	HP:0010049	Short metacarpal	-	OMIM:615777
5447	POR	HP:0000678	Dental crowding	-	OMIM:615777
5447	POR	HP:0000670	Carious teeth	-	OMIM:131300
5447	POR	HP:0011302	Long palm	HP:0040283	ORPHA:95699
5447	POR	HP:0011304	Broad thumb	2/7	OMIM:615777
5447	POR	HP:0000668	Hypodontia	-	OMIM:615777
5447	POR	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:95699
5447	POR	HP:0000664	Synophrys	-	OMIM:615777
5447	POR	HP:0003070	Elbow ankylosis	HP:0040282	ORPHA:95699
5447	POR	HP:0004396	Poor appetite	-	OMIM:131300
5447	POR	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5447	POR	HP:0003031	Ulnar bowing	-	OMIM:201750
5447	POR	HP:0003031	Ulnar bowing	-	OMIM:207410
5447	POR	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5447	POR	HP:0003049	Ulnar deviation of the wrist	HP:0040283	ORPHA:95699
5447	POR	HP:0003041	Humeroradial synostosis	1/3	OMIM:201750
5447	POR	HP:0003041	Humeroradial synostosis	-	OMIM:207410
5447	POR	HP:0003041	Humeroradial synostosis	HP:0040283	ORPHA:95699
5447	POR	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5447	POR	HP:0003026	Short long bone	7/7	OMIM:615777
5447	POR	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5447	POR	HP:0003019	Abnormality of the wrist	HP:0040283	ORPHA:95699
5447	POR	HP:0011410	Caesarean section	1/3	OMIM:201750
5447	POR	HP:0000772	Abnormal rib morphology	HP:0040283	ORPHA:95699
5447	POR	HP:0011403	Abnormal umbilical cord blood vessel morphology	HP:0040284	ORPHA:95699
5447	POR	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5447	POR	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5447	POR	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5447	POR	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:95699
5447	POR	HP:0000750	Delayed speech and language development	-	OMIM:615777
5447	POR	HP:0011461	Fetal onset	7/7	OMIM:615777
5447	POR	HP:0000798	Oligozoospermia	HP:0040282	ORPHA:95699
5447	POR	HP:0000774	Narrow chest	HP:0040283	ORPHA:95699
5447	POR	HP:0000774	Narrow chest	-	OMIM:207410
5447	POR	HP:0000774	Narrow chest	2/7	OMIM:615777
5447	POR	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:95699
5447	POR	HP:0000786	Primary amenorrhea	1/3	OMIM:201750
5447	POR	HP:0004443	Lambdoidal craniosynostosis	-	OMIM:207410
5447	POR	HP:0004440	Coronal craniosynostosis	-	OMIM:207410
5447	POR	HP:0003196	Short nose	HP:0040283	ORPHA:95699
5447	POR	HP:0000924	Abnormality of the skeletal system	HP:0040281	ORPHA:95699
5447	POR	HP:0000927	Abnormality of skeletal maturation	HP:0040282	ORPHA:95699
5447	POR	HP:0000926	Platyspondyly	1/7	OMIM:615777
5447	POR	HP:0003180	Flat acetabular roof	-	OMIM:615777
5447	POR	HP:0003154	Increased circulating ACTH level	1/3	OMIM:201750
5447	POR	HP:0003154	Increased circulating ACTH level	-	OMIM:613571
5447	POR	HP:0003154	Increased circulating ACTH level	HP:0040282	ORPHA:95699
5447	POR	HP:0004482	Relative macrocephaly	-	OMIM:615777
5447	POR	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5447	POR	HP:0000882	Hypoplastic scapulae	HP:0040283	ORPHA:95699
5447	POR	HP:0000846	Adrenal insufficiency	1/3	OMIM:201750
5447	POR	HP:0000811	Abnormal external genitalia morphology	HP:0040282	ORPHA:95699
5447	POR	HP:0000822	Hypertension	HP:0040283	ORPHA:95699
5447	POR	HP:0000822	Hypertension	1/3	OMIM:201750
5447	POR	HP:0000823	Delayed puberty	HP:0040283	ORPHA:95699
5447	POR	HP:0000823	Delayed puberty	-	OMIM:131300
5447	POR	HP:0000894	Short clavicles	-	OMIM:615777
5447	POR	HP:0005892	Proximal tibial and fibular fusion	HP:0040284	ORPHA:95699
5447	POR	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5447	POR	HP:0003275	Narrow pelvis bone	-	OMIM:207410
5447	POR	HP:0003275	Narrow pelvis bone	HP:0040283	ORPHA:95699
5447	POR	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5447	POR	HP:0008072	Maternal virilization in pregnancy	-	OMIM:201750
5447	POR	HP:0008072	Maternal virilization in pregnancy	HP:0040283	ORPHA:95699
5447	POR	HP:0008073	Low maternal circulating estriol concentration	-	OMIM:201750
5447	POR	HP:0000286	Epicanthus	1/7	OMIM:615777
5447	POR	HP:0000280	Coarse facial features	2/7	OMIM:615777
5447	POR	HP:0000260	Wide anterior fontanel	HP:0040283	ORPHA:95699
5447	POR	HP:0000260	Wide anterior fontanel	-	OMIM:207410
5447	POR	HP:0000262	Turricephaly	HP:0040283	ORPHA:95699
5447	POR	HP:0000256	Macrocephaly	1/3	OMIM:201750
5447	POR	HP:0000272	Malar flattening	-	OMIM:201750
5447	POR	HP:0000272	Malar flattening	-	OMIM:207410
5447	POR	HP:0006439	Radioulnar dislocation	HP:0040283	ORPHA:95699
5447	POR	HP:0002827	Hip dislocation	3/7	OMIM:615777
5447	POR	HP:0030084	Clinodactyly	HP:0040283	ORPHA:95699
5447	POR	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:95699
5447	POR	HP:0000238	Hydrocephalus	-	OMIM:207410
5447	POR	HP:0000252	Microcephaly	-	OMIM:201750
5447	POR	HP:0000252	Microcephaly	-	OMIM:615777
5447	POR	HP:0001586	Vesicovaginal fistula	-	OMIM:201750
5447	POR	HP:0000248	Brachycephaly	HP:0040283	ORPHA:95699
5447	POR	HP:0000248	Brachycephaly	-	OMIM:201750
5447	POR	HP:0000248	Brachycephaly	-	OMIM:207410
5447	POR	HP:0012210	Abnormal renal morphology	-	OMIM:207410
5447	POR	HP:0001545	Anteriorly placed anus	-	OMIM:201750
5447	POR	HP:0001545	Anteriorly placed anus	HP:0040284	ORPHA:95699
5447	POR	HP:0001562	Oligohydramnios	-	OMIM:201750
5447	POR	HP:0002857	Genu valgum	-	OMIM:131300
5447	POR	HP:0001533	Slender build	-	OMIM:131300
5447	POR	HP:0001519	Disproportionate tall stature	HP:0040283	ORPHA:95699
5447	POR	HP:0001518	Small for gestational age	-	OMIM:201750
5447	POR	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5447	POR	HP:0007807	Optic nerve compression	-	OMIM:131300
5447	POR	HP:0012385	Camptodactyly	HP:0040283	ORPHA:95699
5447	POR	HP:0012385	Camptodactyly	-	OMIM:201750
5447	POR	HP:0012385	Camptodactyly	-	OMIM:207410
5447	POR	HP:0012368	Flat face	7/7	OMIM:615777
5447	POR	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:95699
5447	POR	HP:0000377	Abnormal pinna morphology	-	OMIM:207410
5447	POR	HP:0002937	Hemivertebrae	-	OMIM:201750
5447	POR	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5447	POR	HP:0001601	Laryngomalacia	-	OMIM:201750
5447	POR	HP:0002902	Hyponatremia	1/3	OMIM:201750
5447	POR	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:95699
5447	POR	HP:0000363	Abnormal earlobe morphology	HP:0040283	ORPHA:95699
5447	POR	HP:0000365	Hearing impairment	10/67	OMIM:131300
5447	POR	HP:0000369	Low-set ears	HP:0040283	ORPHA:95699
5447	POR	HP:0000369	Low-set ears	1/3	OMIM:201750
5447	POR	HP:0000343	Long philtrum	-	OMIM:207410
5447	POR	HP:0000343	Long philtrum	1/7	OMIM:615777
5447	POR	HP:0011001	Increased bone mineral density	-	OMIM:131300
5447	POR	HP:0002980	Femoral bowing	-	OMIM:201750
5447	POR	HP:0002980	Femoral bowing	HP:0040283	ORPHA:95699
5447	POR	HP:0002980	Femoral bowing	-	OMIM:207410
5447	POR	HP:0000316	Hypertelorism	1/3	OMIM:201750
5447	POR	HP:0000311	Round face	2/7	OMIM:615777
5447	POR	HP:0002974	Radioulnar synostosis	-	OMIM:201750
5447	POR	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:95699
5447	POR	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:95699
5447	POR	HP:0001623	Breech presentation	1/3	OMIM:201750
5447	POR	HP:0002970	Genu varum	-	OMIM:615777
5447	POR	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:95699
5447	POR	HP:0001631	Atrial septal defect	-	OMIM:207410
5447	POR	HP:0000303	Mandibular prognathia	-	OMIM:131300
5447	POR	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:95699
5447	POR	HP:0000405	Conductive hearing impairment	-	OMIM:201750
5447	POR	HP:0000402	Stenosis of the external auditory canal	HP:0040283	ORPHA:95699
5447	POR	HP:0000402	Stenosis of the external auditory canal	-	OMIM:207410
5447	POR	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:95699
5447	POR	HP:0005280	Depressed nasal bridge	-	OMIM:201750
5447	POR	HP:0005280	Depressed nasal bridge	-	OMIM:207410
5447	POR	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5447	POR	HP:0000470	Short neck	1/7	OMIM:615777
5447	POR	HP:0001769	Broad foot	1/3	OMIM:201750
5447	POR	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5447	POR	HP:0001763	Pes planus	1/7	OMIM:615777
5447	POR	HP:0000453	Choanal atresia	HP:0040283	ORPHA:95699
5447	POR	HP:0000453	Choanal atresia	-	OMIM:207410
5447	POR	HP:0000453	Choanal atresia	-	OMIM:201750
5447	POR	HP:0000452	Choanal stenosis	1/3	OMIM:201750
5447	POR	HP:0000452	Choanal stenosis	HP:0040283	ORPHA:95699
5447	POR	HP:0000452	Choanal stenosis	-	OMIM:207410
5447	POR	HP:0000445	Wide nose	1/3	OMIM:201750
5447	POR	HP:0000414	Bulbous nose	HP:0040283	ORPHA:95699
5447	POR	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:95699
5447	POR	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:95699
5447	POR	HP:0001840	Metatarsus adductus	-	OMIM:615777
5447	POR	HP:0000520	Proptosis	2/4	OMIM:131300
5447	POR	HP:0000520	Proptosis	-	OMIM:201750
5447	POR	HP:0000520	Proptosis	-	OMIM:207410
5447	POR	HP:0000520	Proptosis	7/7	OMIM:615777
5447	POR	HP:0001838	Rocker bottom foot	1/3	OMIM:201750
5447	POR	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:95699
5447	POR	HP:0001838	Rocker bottom foot	-	OMIM:207410
5447	POR	HP:0030349	Decreased circulating androgen concentration	HP:0040283	ORPHA:95699
5447	POR	HP:0000592	Blue sclerae	2/7	OMIM:615777
5447	POR	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5447	POR	HP:0001883	Talipes	HP:0040283	ORPHA:95699
5447	POR	HP:0012514	Lower limb pain	4/4	OMIM:131300
5449	POU1F1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0009888	Abnormality of secondary sexual hair	HP:0040282	ORPHA:95494
5449	POU1F1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5449	POU1F1	HP:0032210	Decreased circulating free T3	1/1	OMIM:613038
5449	POU1F1	HP:0001293	Cranial nerve compression	-	OMIM:131300
5449	POU1F1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0001274	Agenesis of corpus callosum	HP:0040284	ORPHA:95494
5449	POU1F1	HP:0001254	Lethargy	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0001250	Seizure	HP:0040284	ORPHA:95494
5449	POU1F1	HP:0001252	Hypotonia	-	OMIM:613038
5449	POU1F1	HP:0001252	Hypotonia	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0001252	Hypotonia	2/7	OMIM:615777
5449	POU1F1	HP:0001249	Intellectual disability	-	OMIM:613038
5449	POU1F1	HP:0001249	Intellectual disability	5/7	OMIM:615777
5449	POU1F1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0001263	Global developmental delay	-	OMIM:615777
5449	POU1F1	HP:0100842	Septo-optic dysplasia	HP:0040284	ORPHA:95494
5449	POU1F1	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:95494
5449	POU1F1	HP:0031079	Impaired growth-hormone response to insulin stimulation test	1/1	OMIM:613038
5449	POU1F1	HP:0031098	Decreased thyroid-stimulating hormone level	HP:0040281	ORPHA:226307
5449	POU1F1	HP:0031098	Decreased thyroid-stimulating hormone level	2/2	OMIM:613038
5449	POU1F1	HP:0002515	Waddling gait	54/102	OMIM:131300
5449	POU1F1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:95494
5449	POU1F1	HP:0001382	Joint hypermobility	-	OMIM:615777
5449	POU1F1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5449	POU1F1	HP:0001360	Holoprosencephaly	HP:0040284	ORPHA:95494
5449	POU1F1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5449	POU1F1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0008850	Severe postnatal growth retardation	-	OMIM:613038
5449	POU1F1	HP:0008828	Delayed proximal femoral epiphyseal ossification	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0001331	Absent septum pellucidum	HP:0040284	ORPHA:95494
5449	POU1F1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5449	POU1F1	HP:0001324	Muscle weakness	40/96	OMIM:131300
5449	POU1F1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5449	POU1F1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5449	POU1F1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613038
5449	POU1F1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613038
5449	POU1F1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5449	POU1F1	HP:0002650	Scoliosis	12/14	OMIM:131300
5449	POU1F1	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5449	POU1F1	HP:0002615	Hypotension	HP:0040282	ORPHA:95494
5449	POU1F1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5449	POU1F1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5449	POU1F1	HP:0025483	Abnormal circulating thyroglobulin concentration	-	ORPHA:226307
5449	POU1F1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5449	POU1F1	HP:0000158	Macroglossia	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0000158	Macroglossia	-	OMIM:613038
5449	POU1F1	HP:0000175	Cleft palate	2/7	OMIM:615777
5449	POU1F1	HP:0000141	Amenorrhea	HP:0040282	ORPHA:95494
5449	POU1F1	HP:0031218	Inappropriate antidiuretic hormone secretion	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0031219	Reduced radioactive iodine uptake	HP:0040281	ORPHA:226307
5449	POU1F1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:95494
5449	POU1F1	HP:0002019	Constipation	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0002019	Constipation	HP:0040283	ORPHA:95494
5449	POU1F1	HP:0005990	Thyroid hypoplasia	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0002007	Frontal bossing	-	OMIM:613038
5449	POU1F1	HP:0004637	Decreased cervical spine mobility	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0004637	Decreased cervical spine mobility	HP:0040284	ORPHA:95494
5449	POU1F1	HP:0011800	Midface retrusion	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0011800	Midface retrusion	-	OMIM:613038
5449	POU1F1	HP:0002045	Hypothermia	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0003388	Easy fatigability	36/76	OMIM:131300
5449	POU1F1	HP:0010442	Polydactyly	HP:0040284	ORPHA:95494
5449	POU1F1	HP:0011755	Ectopic posterior pituitary	HP:0040284	ORPHA:95494
5449	POU1F1	HP:0011755	Ectopic posterior pituitary	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5449	POU1F1	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:95494
5449	POU1F1	HP:0008245	Pituitary hypothyroidism	HP:0040281	ORPHA:226307
5449	POU1F1	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:95494
5449	POU1F1	HP:0008202	Reduced circulating prolactin concentration	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0008202	Reduced circulating prolactin concentration	2/2	OMIM:613038
5449	POU1F1	HP:0003593	Infantile onset	1/1	OMIM:613038
5449	POU1F1	HP:0011968	Feeding difficulties	1/1	OMIM:613038
5449	POU1F1	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0010627	Anterior pituitary hypoplasia	1/1	OMIM:613038
5449	POU1F1	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:95494
5449	POU1F1	HP:0010626	Anterior pituitary agenesis	HP:0040282	ORPHA:95494
5449	POU1F1	HP:0003510	Severe short stature	7/7	OMIM:615777
5449	POU1F1	HP:0002315	Headache	-	OMIM:131300
5449	POU1F1	HP:0004976	Knee dislocation	6/7	OMIM:615777
5449	POU1F1	HP:0200028	Pretibial myxedema	1/1	OMIM:613038
5449	POU1F1	HP:0009803	Short phalanx of finger	-	OMIM:615777
5449	POU1F1	HP:0009763	Limb pain	63/92	OMIM:131300
5449	POU1F1	HP:0003621	Juvenile onset	-	OMIM:131300
5449	POU1F1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5449	POU1F1	HP:0009099	Median cleft palate	HP:0040284	ORPHA:95494
5449	POU1F1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5449	POU1F1	HP:6001056	Out-toeing	-	OMIM:131300
5449	POU1F1	HP:0000651	Diplopia	-	OMIM:131300
5449	POU1F1	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:95494
5449	POU1F1	HP:0001956	Truncal obesity	2/7	OMIM:615777
5449	POU1F1	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0000609	Optic nerve hypoplasia	HP:0040284	ORPHA:95494
5449	POU1F1	HP:0001903	Anemia	HP:0040283	OMIM:131300
5449	POU1F1	HP:0010049	Short metacarpal	-	OMIM:615777
5449	POU1F1	HP:0011344	Severe global developmental delay	HP:0040284	ORPHA:95494
5449	POU1F1	HP:0000678	Dental crowding	-	OMIM:615777
5449	POU1F1	HP:0000670	Carious teeth	-	OMIM:131300
5449	POU1F1	HP:0011304	Broad thumb	2/7	OMIM:615777
5449	POU1F1	HP:0000668	Hypodontia	-	OMIM:615777
5449	POU1F1	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0000664	Synophrys	-	OMIM:615777
5449	POU1F1	HP:0004322	Short stature	1/1	OMIM:613038
5449	POU1F1	HP:0005625	Osteoporosis of vertebrae	HP:0040283	ORPHA:95494
5449	POU1F1	HP:0004396	Poor appetite	-	OMIM:131300
5449	POU1F1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5449	POU1F1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5449	POU1F1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5449	POU1F1	HP:0003026	Short long bone	7/7	OMIM:615777
5449	POU1F1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5449	POU1F1	HP:0012731	Ectopic anterior pituitary gland	HP:0040284	ORPHA:95494
5449	POU1F1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5449	POU1F1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5449	POU1F1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5449	POU1F1	HP:0000750	Delayed speech and language development	-	OMIM:615777
5449	POU1F1	HP:0011461	Fetal onset	7/7	OMIM:615777
5449	POU1F1	HP:0011437	Maternal autoimmune disease	-	ORPHA:226307
5449	POU1F1	HP:0000774	Narrow chest	2/7	OMIM:615777
5449	POU1F1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0000789	Infertility	HP:0040282	ORPHA:95494
5449	POU1F1	HP:0003196	Short nose	-	OMIM:613038
5449	POU1F1	HP:0000926	Platyspondyly	1/7	OMIM:615777
5449	POU1F1	HP:0003180	Flat acetabular roof	-	OMIM:615777
5449	POU1F1	HP:0004482	Relative macrocephaly	-	OMIM:615777
5449	POU1F1	HP:0004491	Large posterior fontanelle	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5449	POU1F1	HP:0000871	Panhypopituitarism	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0000839	Pituitary dwarfism	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0000839	Pituitary dwarfism	HP:0040283	ORPHA:95494
5449	POU1F1	HP:0000821	Hypothyroidism	1/1	OMIM:613038
5449	POU1F1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:95494
5449	POU1F1	HP:0000823	Delayed puberty	-	OMIM:131300
5449	POU1F1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:95494
5449	POU1F1	HP:0040075	Hypopituitarism	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0040075	Hypopituitarism	1/1	OMIM:613038
5449	POU1F1	HP:0040075	Hypopituitarism	HP:0040280	ORPHA:95494
5449	POU1F1	HP:0040086	Abnormal prolactin level	HP:0040282	ORPHA:95494
5449	POU1F1	HP:0000894	Short clavicles	-	OMIM:615777
5449	POU1F1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5449	POU1F1	HP:0033078	Decreased circulating free T4 concentration	1/1	OMIM:613038
5449	POU1F1	HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test	1/1	OMIM:613038
5449	POU1F1	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:95494
5449	POU1F1	HP:0034323	Reduced circulating growth hormone concentration	2/2	OMIM:613038
5449	POU1F1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5449	POU1F1	HP:0000952	Jaundice	-	OMIM:613038
5449	POU1F1	HP:0000938	Osteopenia	HP:0040282	ORPHA:95494
5449	POU1F1	HP:0009381	Short finger	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0000286	Epicanthus	1/7	OMIM:615777
5449	POU1F1	HP:0000282	Facial edema	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0000280	Coarse facial features	2/7	OMIM:615777
5449	POU1F1	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0000270	Delayed cranial suture closure	-	OMIM:613038
5449	POU1F1	HP:0000272	Malar flattening	-	OMIM:613038
5449	POU1F1	HP:0002827	Hip dislocation	3/7	OMIM:615777
5449	POU1F1	HP:0000252	Microcephaly	-	OMIM:615777
5449	POU1F1	HP:0025502	Overweight	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0002857	Genu valgum	-	OMIM:131300
5449	POU1F1	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0001533	Slender build	-	OMIM:131300
5449	POU1F1	HP:0001508	Failure to thrive	1/1	OMIM:613038
5449	POU1F1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5449	POU1F1	HP:0001510	Growth delay	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0001510	Growth delay	HP:0040282	ORPHA:95494
5449	POU1F1	HP:0007807	Optic nerve compression	-	OMIM:131300
5449	POU1F1	HP:0031507	Decreased circulating T4 concentration	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0012378	Fatigue	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0012378	Fatigue	HP:0040282	ORPHA:95494
5449	POU1F1	HP:0012368	Flat face	7/7	OMIM:615777
5449	POU1F1	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0006579	Prolonged neonatal jaundice	-	OMIM:613038
5449	POU1F1	HP:0001609	Hoarse voice	1/1	OMIM:613038
5449	POU1F1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5449	POU1F1	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:95494
5449	POU1F1	HP:0002920	Decreased circulating ACTH concentration	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0000365	Hearing impairment	10/67	OMIM:131300
5449	POU1F1	HP:0000343	Long philtrum	1/7	OMIM:615777
5449	POU1F1	HP:0011001	Increased bone mineral density	-	OMIM:131300
5449	POU1F1	HP:0000311	Round face	2/7	OMIM:615777
5449	POU1F1	HP:0001662	Bradycardia	HP:0040282	ORPHA:226307
5449	POU1F1	HP:0002970	Genu varum	-	OMIM:615777
5449	POU1F1	HP:0000303	Mandibular prognathia	-	OMIM:131300
5449	POU1F1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5449	POU1F1	HP:0005280	Depressed nasal bridge	-	OMIM:613038
5449	POU1F1	HP:0000478	Abnormality of the eye	HP:0040284	ORPHA:95494
5449	POU1F1	HP:0000490	Deeply set eye	-	OMIM:613038
5449	POU1F1	HP:0000463	Anteverted nares	-	OMIM:613038
5449	POU1F1	HP:0011120	Concave nasal ridge	1/1	OMIM:613038
5449	POU1F1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:95494
5449	POU1F1	HP:0000470	Short neck	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0000470	Short neck	1/7	OMIM:615777
5449	POU1F1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5449	POU1F1	HP:0001763	Pes planus	1/7	OMIM:615777
5449	POU1F1	HP:0011297	Abnormal digit morphology	HP:0040284	ORPHA:95494
5449	POU1F1	HP:0001840	Metatarsus adductus	-	OMIM:615777
5449	POU1F1	HP:0000520	Proptosis	2/4	OMIM:131300
5449	POU1F1	HP:0000520	Proptosis	7/7	OMIM:615777
5449	POU1F1	HP:0030344	Decreased circulating luteinizing hormone level	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0030341	Decreased circulating follicle stimulating hormone concentration	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0000592	Blue sclerae	2/7	OMIM:615777
5449	POU1F1	HP:0011220	Prominent forehead	HP:0040283	ORPHA:226307
5449	POU1F1	HP:0011220	Prominent forehead	-	OMIM:613038
5449	POU1F1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5449	POU1F1	HP:0012514	Lower limb pain	4/4	OMIM:131300
5450	POU2AF1	HP:0002480	Hepatic encephalopathy	HP:0040283	ORPHA:186
5450	POU2AF1	HP:0001114	Xanthelasma	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0001278	Orthostatic hypotension	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:186
5450	POU2AF1	HP:0002570	Steatorrhea	HP:0040283	ORPHA:186
5450	POU2AF1	HP:0001399	Hepatic failure	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0001394	Cirrhosis	HP:0040281	ORPHA:186
5450	POU2AF1	HP:0002613	Biliary cirrhosis	HP:0040281	ORPHA:186
5450	POU2AF1	HP:0002608	Celiac disease	HP:0040283	ORPHA:186
5450	POU2AF1	HP:0012115	Hepatitis	HP:0040283	ORPHA:186
5450	POU2AF1	HP:0001409	Portal hypertension	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0001402	Hepatocellular carcinoma	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0002040	Esophageal varix	HP:0040283	ORPHA:186
5450	POU2AF1	HP:0003496	Increased circulating IgM level	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0003493	Antinuclear antibody positivity	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0011971	Dermatographic urticaria	HP:0040281	ORPHA:186
5450	POU2AF1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:186
5450	POU2AF1	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:186
5450	POU2AF1	HP:0004386	Gastrointestinal inflammation	HP:0040284	ORPHA:186
5450	POU2AF1	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0003119	Abnormal circulating lipid concentration	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0000820	Abnormality of the thyroid gland	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0003270	Abdominal distention	HP:0040283	ORPHA:186
5450	POU2AF1	HP:0003261	Increased circulating IgA concentration	HP:0040283	ORPHA:186
5450	POU2AF1	HP:0000989	Pruritus	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:186
5450	POU2AF1	HP:0000952	Jaundice	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:186
5450	POU2AF1	HP:0012203	Onychomycosis	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0001541	Ascites	HP:0040283	ORPHA:186
5450	POU2AF1	HP:0002841	Recurrent fungal infections	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0012378	Fatigue	HP:0040283	ORPHA:186
5450	POU2AF1	HP:0011040	Abnormal intrahepatic bile duct morphology	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0002908	Conjugated hyperbilirubinemia	HP:0040281	ORPHA:186
5450	POU2AF1	HP:0002960	Autoimmunity	HP:0040282	ORPHA:186
5450	POU2AF1	HP:0030167	Antimitochondrial antibody positivity	HP:0040281	ORPHA:186
5450	POU2AF1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:186
5455	POU3F3	HP:0001290	Generalized hypotonia	10/18	OMIM:618604
5455	POU3F3	HP:0001250	Seizure	2/19	OMIM:618604
5455	POU3F3	HP:0001249	Intellectual disability	10/10	OMIM:618604
5455	POU3F3	HP:0001266	Choreoathetosis	1/19	OMIM:618604
5455	POU3F3	HP:0001263	Global developmental delay	19/19	OMIM:618604
5455	POU3F3	HP:0001257	Spasticity	1/19	OMIM:618604
5455	POU3F3	HP:0000028	Cryptorchidism	3/11	OMIM:618604
5455	POU3F3	HP:0000006	Autosomal dominant inheritance	-	OMIM:618604
5455	POU3F3	HP:0040326	Hypoplasia of the olfactory bulb	1/11	OMIM:618604
5455	POU3F3	HP:0002079	Hypoplasia of the corpus callosum	2/11	OMIM:618604
5455	POU3F3	HP:0002188	Delayed CNS myelination	2/11	OMIM:618604
5455	POU3F3	HP:0002179	Opisthotonus	1/19	OMIM:618604
5455	POU3F3	HP:0002172	Postural instability	2/19	OMIM:618604
5455	POU3F3	HP:0002360	Sleep abnormality	5/14	OMIM:618604
5455	POU3F3	HP:0002307	Drooling	9/14	OMIM:618604
5455	POU3F3	HP:0000750	Delayed speech and language development	19/19	OMIM:618604
5455	POU3F3	HP:0000729	Autistic behavior	7/19	OMIM:618604
5455	POU3F3	HP:0000286	Epicanthus	2/19	OMIM:618604
5455	POU3F3	HP:0000297	Facial hypotonia	2/19	OMIM:618604
5455	POU3F3	HP:0000378	Cupped ear	7/19	OMIM:618604
5455	POU3F3	HP:0000411	Protruding ear	7/19	OMIM:618604
5456	POU3F4	HP:0001139	Choroideremia	HP:0040281	ORPHA:1435
5456	POU3F4	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0001250	Seizure	HP:0040283	ORPHA:1435
5456	POU3F4	HP:0001251	Ataxia	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0007675	Progressive night blindness	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0001419	X-linked recessive inheritance	-	OMIM:304400
5456	POU3F4	HP:0002066	Gait ataxia	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0002075	Dysdiadochokinesis	HP:0040283	ORPHA:1435
5456	POU3F4	HP:0011748	Adrenocorticotropic hormone deficiency	-	ORPHA:1435
5456	POU3F4	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:1435
5456	POU3F4	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0010625	Anterior pituitary dysgenesis	-	ORPHA:1435
5456	POU3F4	HP:0008527	Congenital sensorineural hearing impairment	3/8	OMIM:304400
5456	POU3F4	HP:0200065	Chorioretinal degeneration	HP:0040281	ORPHA:1435
5456	POU3F4	HP:0030532	Visual acuity test abnormality	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0000639	Nystagmus	HP:0040283	ORPHA:1435
5456	POU3F4	HP:0000648	Optic atrophy	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0001920	Renal artery stenosis	HP:0040283	ORPHA:1435
5456	POU3F4	HP:0011448	Ankle clonus	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0004458	Dilatated internal auditory canal	4/4	OMIM:304400
5456	POU3F4	HP:0004458	Dilatated internal auditory canal	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0000863	Central diabetes insipidus	-	ORPHA:1435
5456	POU3F4	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0000822	Hypertension	HP:0040283	ORPHA:1435
5456	POU3F4	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0005109	Abnormality of the Achilles tendon	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0001510	Growth delay	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0001513	Obesity	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0000381	Stapes ankylosis	-	OMIM:304400
5456	POU3F4	HP:0000381	Stapes ankylosis	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0000375	Abnormal cochlea morphology	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0007937	Reticular pigmentary degeneration	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:304400
5456	POU3F4	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:1435
5456	POU3F4	HP:0000405	Conductive hearing impairment	-	OMIM:304400
5456	POU3F4	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:1435
5456	POU3F4	HP:0000486	Strabismus	HP:0040283	ORPHA:1435
5456	POU3F4	HP:0000410	Mixed hearing impairment	3/8	OMIM:304400
5456	POU3F4	HP:0000532	Abnormal chorioretinal morphology	HP:0040281	ORPHA:1435
5457	POU4F1	HP:0002470	Nonprogressive cerebellar ataxia	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0007256	Abnormal pyramidal sign	HP:0040284	ORPHA:314647
5457	POU4F1	HP:0002403	Positive Romberg sign	-	ORPHA:314647
5457	POU4F1	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:314647
5457	POU4F1	HP:0001252	Hypotonia	4/4	OMIM:619352
5457	POU4F1	HP:0001251	Ataxia	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0001251	Ataxia	4/4	OMIM:619352
5457	POU4F1	HP:0001260	Dysarthria	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0001260	Dysarthria	1/4	OMIM:619352
5457	POU4F1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:314647
5457	POU4F1	HP:0001263	Global developmental delay	4/4	OMIM:619352
5457	POU4F1	HP:0002536	Abnormal cortical gyration	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0001348	Brisk reflexes	HP:0040284	ORPHA:314647
5457	POU4F1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619352
5457	POU4F1	HP:0001310	Dysmetria	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0001310	Dysmetria	1/4	OMIM:619352
5457	POU4F1	HP:0002650	Scoliosis	2/4	OMIM:619352
5457	POU4F1	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0000179	Thick lower lip vermilion	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0000160	Narrow mouth	HP:0040284	ORPHA:314647
5457	POU4F1	HP:0002019	Constipation	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0002003	Large forehead	HP:0040284	ORPHA:314647
5457	POU4F1	HP:0100540	Palpebral edema	HP:0040284	ORPHA:314647
5457	POU4F1	HP:0002080	Intention tremor	HP:0040284	ORPHA:314647
5457	POU4F1	HP:0002080	Intention tremor	4/4	OMIM:619352
5457	POU4F1	HP:0002120	Cerebral cortical atrophy	HP:0040284	ORPHA:314647
5457	POU4F1	HP:0002354	Memory impairment	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0002317	Unsteady gait	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0000639	Nystagmus	-	ORPHA:314647
5457	POU4F1	HP:0000639	Nystagmus	1/4	OMIM:619352
5457	POU4F1	HP:0400005	Short ear	HP:0040284	ORPHA:314647
5457	POU4F1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0000729	Autistic behavior	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0010296	Ankyloglossia	1/4	OMIM:619352
5457	POU4F1	HP:0000256	Macrocephaly	HP:0040284	ORPHA:314647
5457	POU4F1	HP:0000276	Long face	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0025517	Hypoplastic hippocampus	HP:0040284	ORPHA:314647
5457	POU4F1	HP:0011098	Speech apraxia	1/4	OMIM:619352
5457	POU4F1	HP:0011067	Mesiodens	HP:0040284	ORPHA:314647
5457	POU4F1	HP:0000343	Long philtrum	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0000307	Pointed chin	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0011166	Focal myoclonic seizure	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0000486	Strabismus	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0000490	Deeply set eye	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0012450	Chronic constipation	1/4	OMIM:619352
5457	POU4F1	HP:0012433	Abnormal social behavior	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0000445	Wide nose	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0000414	Bulbous nose	HP:0040282	ORPHA:314647
5457	POU4F1	HP:0000565	Esotropia	3/4	OMIM:619352
5459	POU4F3	HP:0000006	Autosomal dominant inheritance	-	OMIM:602459
5459	POU4F3	HP:0000365	Hearing impairment	HP:0040280	OMIM:602459
5468	PPARG	HP:0001176	Large hands	HP:0040283	ORPHA:528
5468	PPARG	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:604367
5468	PPARG	HP:0003707	Calf muscle pseudohypertrophy	HP:0040283	ORPHA:79083
5468	PPARG	HP:0003712	Skeletal muscle hypertrophy	HP:0040282	ORPHA:79083
5468	PPARG	HP:0003712	Skeletal muscle hypertrophy	HP:0040281	ORPHA:528
5468	PPARG	HP:0001249	Intellectual disability	HP:0040282	ORPHA:528
5468	PPARG	HP:0001263	Global developmental delay	HP:0040283	ORPHA:528
5468	PPARG	HP:0010982	Polygenic inheritance	-	OMIM:601665
5468	PPARG	HP:0008665	Clitoral hypertrophy	HP:0040283	ORPHA:528
5468	PPARG	HP:0012062	Bone cyst	HP:0040283	ORPHA:528
5468	PPARG	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:79083
5468	PPARG	HP:0001397	Hepatic steatosis	-	OMIM:604367
5468	PPARG	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:528
5468	PPARG	HP:0001394	Cirrhosis	HP:0040284	ORPHA:79083
5468	PPARG	HP:0001394	Cirrhosis	-	OMIM:604367
5468	PPARG	HP:0001394	Cirrhosis	HP:0040283	ORPHA:528
5468	PPARG	HP:0008887	Adipose tissue loss	HP:0040281	ORPHA:528
5468	PPARG	HP:0012084	Abnormality of skeletal muscle fiber size	HP:0040283	ORPHA:79083
5468	PPARG	HP:0007457	Prominent veins on trunk	HP:0040284	ORPHA:79083
5468	PPARG	HP:0000007	Autosomal recessive inheritance	-	OMIM:601665
5468	PPARG	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
5468	PPARG	HP:0000006	Autosomal dominant inheritance	-	OMIM:604367
5468	PPARG	HP:0000006	Autosomal dominant inheritance	-	OMIM:601665
5468	PPARG	HP:0002621	Atherosclerosis	HP:0040282	ORPHA:79083
5468	PPARG	HP:0000158	Macroglossia	HP:0040283	ORPHA:528
5468	PPARG	HP:0000141	Amenorrhea	HP:0040284	ORPHA:528
5468	PPARG	HP:0000147	Polycystic ovaries	HP:0040283	OMIM:604367
5468	PPARG	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:79083
5468	PPARG	HP:0000147	Polycystic ovaries	HP:0040284	ORPHA:528
5468	PPARG	HP:0003326	Myalgia	HP:0040283	ORPHA:79083
5468	PPARG	HP:0005978	Type II diabetes mellitus	3/3	OMIM:604367
5468	PPARG	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
5468	PPARG	HP:0100578	Lipoatrophy	HP:0040280	ORPHA:79083
5468	PPARG	HP:0010465	Precocious puberty in females	HP:0040284	ORPHA:528
5468	PPARG	HP:0002155	Hypertriglyceridemia	HP:0040281	ORPHA:79083
5468	PPARG	HP:0002155	Hypertriglyceridemia	3/3	OMIM:604367
5468	PPARG	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:528
5468	PPARG	HP:0002149	Hyperuricemia	-	OMIM:604367
5468	PPARG	HP:0002149	Hyperuricemia	HP:0040283	ORPHA:79083
5468	PPARG	HP:0002162	Low posterior hairline	HP:0040283	ORPHA:528
5468	PPARG	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:528
5468	PPARG	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:79083
5468	PPARG	HP:0003584	Late onset	-	OMIM:125853
5468	PPARG	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:79083
5468	PPARG	HP:0001007	Hirsutism	-	OMIM:604367
5468	PPARG	HP:0001015	Prominent superficial veins	HP:0040283	ORPHA:528
5468	PPARG	HP:0001015	Prominent superficial veins	-	OMIM:604367
5468	PPARG	HP:0100601	Eclampsia	HP:0040283	ORPHA:79083
5468	PPARG	HP:0100602	Preeclampsia	-	OMIM:604367
5468	PPARG	HP:0100607	Dysmenorrhea	HP:0040283	ORPHA:79083
5468	PPARG	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:79083
5468	PPARG	HP:0009800	Maternal diabetes	-	OMIM:604367
5468	PPARG	HP:0003635	Loss of subcutaneous adipose tissue in limbs	-	OMIM:604367
5468	PPARG	HP:0003635	Loss of subcutaneous adipose tissue in limbs	HP:0040281	ORPHA:79083
5468	PPARG	HP:0003621	Juvenile onset	1/3	OMIM:604367
5468	PPARG	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
5468	PPARG	HP:0031819	Increased waist to hip ratio	-	OMIM:601665
5468	PPARG	HP:0009017	Loss of gluteal subcutaneous adipose tissue	-	OMIM:604367
5468	PPARG	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:528
5468	PPARG	HP:0005616	Accelerated skeletal maturation	HP:0040283	ORPHA:528
5468	PPARG	HP:0003074	Hyperglycemia	2/3	OMIM:604367
5468	PPARG	HP:0011407	Proportionate tall stature	HP:0040283	ORPHA:528
5468	PPARG	HP:0011462	Young adult onset	2/3	OMIM:604367
5468	PPARG	HP:0009125	Lipodystrophy	3/3	OMIM:604367
5468	PPARG	HP:0009125	Lipodystrophy	HP:0040281	ORPHA:528
5468	PPARG	HP:0000786	Primary amenorrhea	HP:0040284	ORPHA:79083
5468	PPARG	HP:0000786	Primary amenorrhea	1/2	OMIM:604367
5468	PPARG	HP:0003124	Hypercholesterolemia	HP:0040283	ORPHA:528
5468	PPARG	HP:0030796	Increased C-peptide level	HP:0040283	ORPHA:528
5468	PPARG	HP:0003198	Myopathy	HP:0040283	ORPHA:79083
5468	PPARG	HP:0000876	Oligomenorrhea	HP:0040283	ORPHA:79083
5468	PPARG	HP:0000876	Oligomenorrhea	HP:0040284	ORPHA:528
5468	PPARG	HP:0000876	Oligomenorrhea	1/2	OMIM:604367
5468	PPARG	HP:0000855	Insulin resistance	3/3	OMIM:604367
5468	PPARG	HP:0000855	Insulin resistance	-	OMIM:125853
5468	PPARG	HP:0000855	Insulin resistance	HP:0040280	ORPHA:79083
5468	PPARG	HP:0000855	Insulin resistance	HP:0040281	ORPHA:528
5468	PPARG	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:79083
5468	PPARG	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040281	ORPHA:79083
5468	PPARG	HP:0000831	Insulin-resistant diabetes mellitus	-	OMIM:604367
5468	PPARG	HP:0000842	Hyperinsulinemia	3/3	OMIM:604367
5468	PPARG	HP:0000842	Hyperinsulinemia	HP:0040283	ORPHA:528
5468	PPARG	HP:0000819	Diabetes mellitus	HP:0040281	ORPHA:79083
5468	PPARG	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:528
5468	PPARG	HP:0000822	Hypertension	HP:0040280	ORPHA:79083
5468	PPARG	HP:0000822	Hypertension	3/3	OMIM:604367
5468	PPARG	HP:0003233	Decreased HDL cholesterol concentration	2/3	OMIM:604367
5468	PPARG	HP:0003247	Overgrowth of external genitalia	HP:0040283	ORPHA:528
5468	PPARG	HP:0000998	Hypertrichosis	HP:0040282	ORPHA:528
5468	PPARG	HP:0000991	Xanthomatosis	HP:0040281	ORPHA:79083
5468	PPARG	HP:0000956	Acanthosis nigricans	1/3	OMIM:604367
5468	PPARG	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:79083
5468	PPARG	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:528
5468	PPARG	HP:0000963	Thin skin	HP:0040282	ORPHA:79083
5468	PPARG	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:79083
5468	PPARG	HP:0000292	Loss of facial adipose tissue	HP:0040283	ORPHA:79083
5468	PPARG	HP:0000294	Low anterior hairline	HP:0040283	ORPHA:528
5468	PPARG	HP:0001508	Failure to thrive	HP:0040283	ORPHA:528
5468	PPARG	HP:0001513	Obesity	-	OMIM:601665
5468	PPARG	HP:0012340	Decreased resting energy expenditure	-	OMIM:601665
5468	PPARG	HP:0000336	Prominent supraorbital ridges	HP:0040283	ORPHA:528
5468	PPARG	HP:0001677	Coronary artery atherosclerosis	HP:0040283	ORPHA:79083
5468	PPARG	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:79083
5468	PPARG	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:528
5468	PPARG	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:79083
5468	PPARG	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:528
5468	PPARG	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:528
5468	PPARG	HP:0001733	Pancreatitis	HP:0040283	ORPHA:79083
5468	PPARG	HP:0001744	Splenomegaly	HP:0040283	ORPHA:79083
5468	PPARG	HP:0001833	Long foot	HP:0040283	ORPHA:528
5476	CTSA	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5476	CTSA	HP:0001293	Cranial nerve compression	-	OMIM:131300
5476	CTSA	HP:0001250	Seizure	HP:0040281	ORPHA:351
5476	CTSA	HP:0001250	Seizure	-	OMIM:256540
5476	CTSA	HP:0001252	Hypotonia	2/7	OMIM:615777
5476	CTSA	HP:0001249	Intellectual disability	HP:0040281	ORPHA:351
5476	CTSA	HP:0001249	Intellectual disability	4/4	OMIM:256540
5476	CTSA	HP:0001249	Intellectual disability	5/7	OMIM:615777
5476	CTSA	HP:0001263	Global developmental delay	-	OMIM:615777
5476	CTSA	HP:0002515	Waddling gait	54/102	OMIM:131300
5476	CTSA	HP:0001382	Joint hypermobility	-	OMIM:615777
5476	CTSA	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5476	CTSA	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5476	CTSA	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5476	CTSA	HP:0001324	Muscle weakness	40/96	OMIM:131300
5476	CTSA	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5476	CTSA	HP:0000007	Autosomal recessive inheritance	-	OMIM:256540
5476	CTSA	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5476	CTSA	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5476	CTSA	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:351
5476	CTSA	HP:0002650	Scoliosis	12/14	OMIM:131300
5476	CTSA	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5476	CTSA	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5476	CTSA	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5476	CTSA	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5476	CTSA	HP:0000175	Cleft palate	2/7	OMIM:615777
5476	CTSA	HP:0001433	Hepatosplenomegaly	HP:0040283	OMIM:256540
5476	CTSA	HP:0003388	Easy fatigability	36/76	OMIM:131300
5476	CTSA	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5476	CTSA	HP:0008166	Decreased beta-galactosidase activity	-	OMIM:256540
5476	CTSA	HP:0003468	Abnormal vertebral morphology	HP:0040281	ORPHA:351
5476	CTSA	HP:0010729	Cherry red spot of the macula	HP:0040281	ORPHA:351
5476	CTSA	HP:0010729	Cherry red spot of the macula	-	OMIM:256540
5476	CTSA	HP:0003510	Severe short stature	-	OMIM:256540
5476	CTSA	HP:0003510	Severe short stature	7/7	OMIM:615777
5476	CTSA	HP:0001028	Hemangioma	-	OMIM:256540
5476	CTSA	HP:0002315	Headache	-	OMIM:131300
5476	CTSA	HP:0004976	Knee dislocation	6/7	OMIM:615777
5476	CTSA	HP:0009803	Short phalanx of finger	-	OMIM:615777
5476	CTSA	HP:0009763	Limb pain	63/92	OMIM:131300
5476	CTSA	HP:0003621	Juvenile onset	-	OMIM:131300
5476	CTSA	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5476	CTSA	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5476	CTSA	HP:6001056	Out-toeing	-	OMIM:131300
5476	CTSA	HP:0000651	Diplopia	-	OMIM:131300
5476	CTSA	HP:0001956	Truncal obesity	2/7	OMIM:615777
5476	CTSA	HP:0001903	Anemia	HP:0040283	OMIM:131300
5476	CTSA	HP:0010049	Short metacarpal	-	OMIM:615777
5476	CTSA	HP:0000678	Dental crowding	-	OMIM:615777
5476	CTSA	HP:0000670	Carious teeth	-	OMIM:131300
5476	CTSA	HP:0011304	Broad thumb	2/7	OMIM:615777
5476	CTSA	HP:0000668	Hypodontia	-	OMIM:615777
5476	CTSA	HP:0000664	Synophrys	-	OMIM:615777
5476	CTSA	HP:0004396	Poor appetite	-	OMIM:131300
5476	CTSA	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5476	CTSA	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5476	CTSA	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5476	CTSA	HP:0003026	Short long bone	7/7	OMIM:615777
5476	CTSA	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5476	CTSA	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5476	CTSA	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5476	CTSA	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5476	CTSA	HP:0000750	Delayed speech and language development	-	OMIM:615777
5476	CTSA	HP:0011461	Fetal onset	7/7	OMIM:615777
5476	CTSA	HP:0000774	Narrow chest	2/7	OMIM:615777
5476	CTSA	HP:0000925	Abnormality of the vertebral column	HP:0040281	ORPHA:351
5476	CTSA	HP:0000926	Platyspondyly	1/7	OMIM:615777
5476	CTSA	HP:0003180	Flat acetabular roof	-	OMIM:615777
5476	CTSA	HP:0004482	Relative macrocephaly	-	OMIM:615777
5476	CTSA	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5476	CTSA	HP:0000823	Delayed puberty	-	OMIM:131300
5476	CTSA	HP:0000894	Short clavicles	-	OMIM:615777
5476	CTSA	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5476	CTSA	HP:0003271	Visceromegaly	-	OMIM:256540
5476	CTSA	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5476	CTSA	HP:0000943	Dysostosis multiplex	-	OMIM:256540
5476	CTSA	HP:0000286	Epicanthus	1/7	OMIM:615777
5476	CTSA	HP:0000280	Coarse facial features	-	OMIM:256540
5476	CTSA	HP:0000280	Coarse facial features	HP:0040281	ORPHA:351
5476	CTSA	HP:0000280	Coarse facial features	2/7	OMIM:615777
5476	CTSA	HP:0007759	Opacification of the corneal stroma	-	OMIM:256540
5476	CTSA	HP:0002827	Hip dislocation	3/7	OMIM:615777
5476	CTSA	HP:0000252	Microcephaly	-	OMIM:615777
5476	CTSA	HP:0002857	Genu valgum	-	OMIM:131300
5476	CTSA	HP:0001533	Slender build	-	OMIM:131300
5476	CTSA	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5476	CTSA	HP:0007807	Optic nerve compression	-	OMIM:131300
5476	CTSA	HP:0012368	Flat face	7/7	OMIM:615777
5476	CTSA	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5476	CTSA	HP:0000365	Hearing impairment	HP:0040281	ORPHA:351
5476	CTSA	HP:0000365	Hearing impairment	-	OMIM:256540
5476	CTSA	HP:0000365	Hearing impairment	10/67	OMIM:131300
5476	CTSA	HP:0000343	Long philtrum	1/7	OMIM:615777
5476	CTSA	HP:0011001	Increased bone mineral density	-	OMIM:131300
5476	CTSA	HP:0000311	Round face	2/7	OMIM:615777
5476	CTSA	HP:0002970	Genu varum	-	OMIM:615777
5476	CTSA	HP:0000303	Mandibular prognathia	-	OMIM:131300
5476	CTSA	HP:0007957	Corneal opacity	HP:0040281	ORPHA:351
5476	CTSA	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5476	CTSA	HP:0001790	Nonimmune hydrops fetalis	-	OMIM:256540
5476	CTSA	HP:0000470	Short neck	1/7	OMIM:615777
5476	CTSA	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5476	CTSA	HP:0001763	Pes planus	1/7	OMIM:615777
5476	CTSA	HP:0001840	Metatarsus adductus	-	OMIM:615777
5476	CTSA	HP:0000524	Conjunctival telangiectasia	-	OMIM:256540
5476	CTSA	HP:0000520	Proptosis	2/4	OMIM:131300
5476	CTSA	HP:0000520	Proptosis	7/7	OMIM:615777
5476	CTSA	HP:0000592	Blue sclerae	2/7	OMIM:615777
5476	CTSA	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5476	CTSA	HP:0012514	Lower limb pain	4/4	OMIM:131300
5479	PPIB	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5479	PPIB	HP:0001293	Cranial nerve compression	-	OMIM:131300
5479	PPIB	HP:0001256	Intellectual disability, mild	-	OMIM:259770
5479	PPIB	HP:0001252	Hypotonia	-	OMIM:259770
5479	PPIB	HP:0001252	Hypotonia	2/7	OMIM:615777
5479	PPIB	HP:0001249	Intellectual disability	5/7	OMIM:615777
5479	PPIB	HP:0001263	Global developmental delay	1/1	OMIM:612394
5479	PPIB	HP:0001263	Global developmental delay	-	OMIM:615777
5479	PPIB	HP:0002540	Inability to walk	1/2	OMIM:259440
5479	PPIB	HP:0002515	Waddling gait	54/102	OMIM:131300
5479	PPIB	HP:0006094	Finger joint hypermobility	1/1	OMIM:259440
5479	PPIB	HP:0001382	Joint hypermobility	-	OMIM:259770
5479	PPIB	HP:0001382	Joint hypermobility	-	OMIM:615777
5479	PPIB	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
5479	PPIB	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5479	PPIB	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5479	PPIB	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
5479	PPIB	HP:0008873	Disproportionate short-limb short stature	3/3	OMIM:259440
5479	PPIB	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
5479	PPIB	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
5479	PPIB	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5479	PPIB	HP:0001324	Muscle weakness	40/96	OMIM:131300
5479	PPIB	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5479	PPIB	HP:0000007	Autosomal recessive inheritance	-	OMIM:259440
5479	PPIB	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
5479	PPIB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5479	PPIB	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
5479	PPIB	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5479	PPIB	HP:0002650	Scoliosis	1/5	OMIM:259770
5479	PPIB	HP:0002650	Scoliosis	1/1	OMIM:612394
5479	PPIB	HP:0002650	Scoliosis	11/12	OMIM:259440
5479	PPIB	HP:0002650	Scoliosis	12/14	OMIM:131300
5479	PPIB	HP:0002645	Wormian bones	1/1	OMIM:259440
5479	PPIB	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5479	PPIB	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5479	PPIB	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5479	PPIB	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5479	PPIB	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
5479	PPIB	HP:0000175	Cleft palate	2/7	OMIM:615777
5479	PPIB	HP:0005019	Diaphyseal undertubulation	2/2	OMIM:259440
5479	PPIB	HP:0002757	Recurrent fractures	4/5	OMIM:259770
5479	PPIB	HP:0002757	Recurrent fractures	4/4	OMIM:259440
5479	PPIB	HP:0002756	Pathologic fracture	-	OMIM:259770
5479	PPIB	HP:0002756	Pathologic fracture	1/1	OMIM:612394
5479	PPIB	HP:0002751	Kyphoscoliosis	-	OMIM:259770
5479	PPIB	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
5479	PPIB	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
5479	PPIB	HP:0003388	Easy fatigability	36/76	OMIM:131300
5479	PPIB	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5479	PPIB	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
5479	PPIB	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
5479	PPIB	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
5479	PPIB	HP:0002194	Delayed gross motor development	3/3	OMIM:259440
5479	PPIB	HP:0002164	Nail dysplasia	1/1	OMIM:612394
5479	PPIB	HP:0010557	Overlapping fingers	1/2	OMIM:612394
5479	PPIB	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
5479	PPIB	HP:0003593	Infantile onset	1/5	OMIM:259770
5479	PPIB	HP:0003593	Infantile onset	1/2	OMIM:259440
5479	PPIB	HP:0003577	Congenital onset	4/5	OMIM:259770
5479	PPIB	HP:0003577	Congenital onset	1/2	OMIM:259440
5479	PPIB	HP:0002208	Coarse hair	1/1	OMIM:612394
5479	PPIB	HP:0003510	Severe short stature	7/7	OMIM:615777
5479	PPIB	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
5479	PPIB	HP:0025019	Arterial rupture	1/1	OMIM:612394
5479	PPIB	HP:0002315	Headache	-	OMIM:131300
5479	PPIB	HP:0004976	Knee dislocation	6/7	OMIM:615777
5479	PPIB	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
5479	PPIB	HP:0009803	Short phalanx of finger	-	OMIM:615777
5479	PPIB	HP:0001089	Iris atrophy	-	OMIM:259770
5479	PPIB	HP:0009763	Limb pain	63/92	OMIM:131300
5479	PPIB	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
5479	PPIB	HP:0003621	Juvenile onset	-	OMIM:131300
5479	PPIB	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
5479	PPIB	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5479	PPIB	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5479	PPIB	HP:6001056	Out-toeing	-	OMIM:131300
5479	PPIB	HP:0000651	Diplopia	-	OMIM:131300
5479	PPIB	HP:0000618	Blindness	5/5	OMIM:259770
5479	PPIB	HP:0001956	Truncal obesity	2/7	OMIM:615777
5479	PPIB	HP:0001903	Anemia	HP:0040283	OMIM:131300
5479	PPIB	HP:0010049	Short metacarpal	-	OMIM:615777
5479	PPIB	HP:0000678	Dental crowding	-	OMIM:615777
5479	PPIB	HP:0000670	Carious teeth	-	OMIM:131300
5479	PPIB	HP:0011304	Broad thumb	2/7	OMIM:615777
5479	PPIB	HP:0000668	Hypodontia	-	OMIM:615777
5479	PPIB	HP:0000667	Phthisis bulbi	-	OMIM:259770
5479	PPIB	HP:0000664	Synophrys	-	OMIM:615777
5479	PPIB	HP:0004322	Short stature	-	OMIM:259770
5479	PPIB	HP:0004396	Poor appetite	-	OMIM:131300
5479	PPIB	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5479	PPIB	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5479	PPIB	HP:0034198	Second trimester onset	4/4	OMIM:259440
5479	PPIB	HP:0003016	Metaphyseal widening	-	OMIM:259770
5479	PPIB	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5479	PPIB	HP:0003026	Short long bone	7/7	OMIM:615777
5479	PPIB	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5479	PPIB	HP:0003023	Bowing of limbs due to multiple fractures	14/14	OMIM:259440
5479	PPIB	HP:0000767	Pectus excavatum	-	OMIM:259440
5479	PPIB	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5479	PPIB	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5479	PPIB	HP:0000768	Pectus carinatum	-	OMIM:259440
5479	PPIB	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5479	PPIB	HP:0000750	Delayed speech and language development	-	OMIM:615777
5479	PPIB	HP:0000703	Dentinogenesis imperfecta	10/11	OMIM:259440
5479	PPIB	HP:0011461	Fetal onset	7/7	OMIM:615777
5479	PPIB	HP:0011461	Fetal onset	2/2	OMIM:612394
5479	PPIB	HP:0000774	Narrow chest	2/7	OMIM:615777
5479	PPIB	HP:0000774	Narrow chest	1/1	OMIM:259440
5479	PPIB	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
5479	PPIB	HP:0003196	Short nose	1/1	OMIM:612394
5479	PPIB	HP:0000926	Platyspondyly	-	OMIM:259770
5479	PPIB	HP:0000926	Platyspondyly	1/7	OMIM:615777
5479	PPIB	HP:0000926	Platyspondyly	1/1	OMIM:612394
5479	PPIB	HP:0000926	Platyspondyly	-	OMIM:259440
5479	PPIB	HP:0003180	Flat acetabular roof	-	OMIM:615777
5479	PPIB	HP:0004482	Relative macrocephaly	-	OMIM:615777
5479	PPIB	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5479	PPIB	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
5479	PPIB	HP:0000823	Delayed puberty	-	OMIM:131300
5479	PPIB	HP:0000894	Short clavicles	-	OMIM:615777
5479	PPIB	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
5479	PPIB	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5479	PPIB	HP:0005855	Multiple prenatal fractures	5/6	OMIM:259440
5479	PPIB	HP:0045087	Hip joint hypermobility	1/1	OMIM:259440
5479	PPIB	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
5479	PPIB	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
5479	PPIB	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5479	PPIB	HP:0000939	Osteoporosis	4/5	OMIM:259770
5479	PPIB	HP:0000939	Osteoporosis	1/3	OMIM:259440
5479	PPIB	HP:0000938	Osteopenia	1/5	OMIM:259770
5479	PPIB	HP:0000938	Osteopenia	1/1	OMIM:612394
5479	PPIB	HP:0000938	Osteopenia	3/4	OMIM:259440
5479	PPIB	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
5479	PPIB	HP:0000286	Epicanthus	1/7	OMIM:615777
5479	PPIB	HP:0000280	Coarse facial features	2/7	OMIM:615777
5479	PPIB	HP:0000260	Wide anterior fontanel	3/3	OMIM:259440
5479	PPIB	HP:0000272	Malar flattening	1/1	OMIM:612394
5479	PPIB	HP:0007773	Vitreoretinopathy	-	OMIM:259770
5479	PPIB	HP:0002827	Hip dislocation	3/7	OMIM:615777
5479	PPIB	HP:0002808	Kyphosis	1/5	OMIM:259770
5479	PPIB	HP:0002808	Kyphosis	1/2	OMIM:259440
5479	PPIB	HP:0006385	Short lower limbs	-	OMIM:259440
5479	PPIB	HP:0000252	Microcephaly	-	OMIM:259770
5479	PPIB	HP:0000252	Microcephaly	-	OMIM:615777
5479	PPIB	HP:0001552	Barrel-shaped chest	-	OMIM:259770
5479	PPIB	HP:0002857	Genu valgum	-	OMIM:131300
5479	PPIB	HP:0001537	Umbilical hernia	1/3	OMIM:259440
5479	PPIB	HP:0001533	Slender build	-	OMIM:131300
5479	PPIB	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5479	PPIB	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
5479	PPIB	HP:0007807	Optic nerve compression	-	OMIM:131300
5479	PPIB	HP:0012368	Flat face	7/7	OMIM:615777
5479	PPIB	HP:0012368	Flat face	1/1	OMIM:612394
5479	PPIB	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
5479	PPIB	HP:0007875	Congenital blindness	4/5	OMIM:259770
5479	PPIB	HP:0007862	Retinal calcification	1/5	OMIM:259770
5479	PPIB	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5479	PPIB	HP:0006487	Bowing of the long bones	1/1	OMIM:259440
5479	PPIB	HP:0000365	Hearing impairment	10/67	OMIM:131300
5479	PPIB	HP:0000369	Low-set ears	2/2	OMIM:612394
5479	PPIB	HP:0000343	Long philtrum	1/7	OMIM:615777
5479	PPIB	HP:0011001	Increased bone mineral density	-	OMIM:131300
5479	PPIB	HP:0002982	Tibial bowing	1/5	OMIM:259770
5479	PPIB	HP:0000311	Round face	2/7	OMIM:615777
5479	PPIB	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
5479	PPIB	HP:0000325	Triangular face	1/1	OMIM:259440
5479	PPIB	HP:0001629	Ventricular septal defect	-	OMIM:259770
5479	PPIB	HP:0002953	Vertebral compression fracture	1/2	OMIM:259440
5479	PPIB	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
5479	PPIB	HP:0002970	Genu varum	-	OMIM:615777
5479	PPIB	HP:0000307	Pointed chin	1/2	OMIM:612394
5479	PPIB	HP:0000303	Mandibular prognathia	-	OMIM:131300
5479	PPIB	HP:0006640	Multiple rib fractures	-	OMIM:259440
5479	PPIB	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
5479	PPIB	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5479	PPIB	HP:0000463	Anteverted nares	1/1	OMIM:612394
5479	PPIB	HP:0000470	Short neck	1/7	OMIM:615777
5479	PPIB	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5479	PPIB	HP:0001763	Pes planus	1/7	OMIM:615777
5479	PPIB	HP:0001763	Pes planus	2/2	OMIM:259440
5479	PPIB	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
5479	PPIB	HP:0005474	Decreased calvarial ossification	-	OMIM:259440
5479	PPIB	HP:0005469	Flat occiput	1/1	OMIM:259440
5479	PPIB	HP:0000518	Cataract	1/5	OMIM:259770
5479	PPIB	HP:0000518	Cataract	1/1	OMIM:612394
5479	PPIB	HP:0001840	Metatarsus adductus	-	OMIM:615777
5479	PPIB	HP:0000520	Proptosis	2/4	OMIM:131300
5479	PPIB	HP:0000520	Proptosis	7/7	OMIM:615777
5479	PPIB	HP:0000520	Proptosis	2/2	OMIM:259440
5479	PPIB	HP:0000592	Blue sclerae	2/7	OMIM:615777
5479	PPIB	HP:0000592	Blue sclerae	1/1	OMIM:259440
5479	PPIB	HP:0000586	Shallow orbits	1/1	OMIM:612394
5479	PPIB	HP:0000568	Microphthalmia	1/5	OMIM:259770
5479	PPIB	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5479	PPIB	HP:0012514	Lower limb pain	4/4	OMIM:131300
5479	PPIB	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
5479	PPIB	HP:0000545	Myopia	1/1	OMIM:612394
5495	PPM1B	HP:0001250	Seizure	HP:0040282	ORPHA:163693
5495	PPM1B	HP:0001252	Hypotonia	HP:0040281	ORPHA:163693
5495	PPM1B	HP:0001263	Global developmental delay	HP:0040281	ORPHA:163693
5495	PPM1B	HP:0000135	Hypogonadism	HP:0040281	ORPHA:163693
5495	PPM1B	HP:0002007	Frontal bossing	HP:0040281	ORPHA:163693
5495	PPM1B	HP:0200125	Mitochondrial respiratory chain defects	HP:0040281	ORPHA:163693
5495	PPM1B	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:163693
5495	PPM1B	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:163693
5495	PPM1B	HP:0000787	Nephrolithiasis	HP:0040281	ORPHA:163693
5495	PPM1B	HP:0003131	Cystinuria	HP:0040281	ORPHA:163693
5495	PPM1B	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:163693
5495	PPM1B	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:163693
5495	PPM1B	HP:0001508	Failure to thrive	HP:0040281	ORPHA:163693
5495	PPM1B	HP:0001510	Growth delay	HP:0040281	ORPHA:163693
5495	PPM1B	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:163693
5495	PPM1B	HP:0002901	Hypocalcemia	HP:0040282	ORPHA:163693
5495	PPM1B	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:163693
5495	PPM1B	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:163693
5495	PPM1B	HP:0000527	Long eyelashes	HP:0040281	ORPHA:163693
5498	PPOX	HP:0001250	Seizure	HP:0040283	ORPHA:79473
5498	PPOX	HP:0001250	Seizure	1/1	OMIM:620483
5498	PPOX	HP:0001249	Intellectual disability	1/1	OMIM:620483
5498	PPOX	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:79473
5498	PPOX	HP:0002595	Ileus	HP:0040283	ORPHA:79473
5498	PPOX	HP:0001263	Global developmental delay	1/1	OMIM:620483
5498	PPOX	HP:0001259	Coma	HP:0040284	ORPHA:79473
5498	PPOX	HP:0001392	Abnormality of the liver	HP:0040284	ORPHA:79473
5498	PPOX	HP:0012043	Pendular nystagmus	1/1	OMIM:620483
5498	PPOX	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:79473
5498	PPOX	HP:0001324	Muscle weakness	HP:0040282	ORPHA:79473
5498	PPOX	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:79473
5498	PPOX	HP:0000007	Autosomal recessive inheritance	-	OMIM:620483
5498	PPOX	HP:0000006	Autosomal dominant inheritance	-	OMIM:176200
5498	PPOX	HP:0012187	Increased erythrocyte protoporphyrin concentration	1/1	OMIM:620483
5498	PPOX	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040282	ORPHA:79473
5498	PPOX	HP:0031218	Inappropriate antidiuretic hormone secretion	HP:0040283	ORPHA:79473
5498	PPOX	HP:0001402	Hepatocellular carcinoma	HP:0040284	ORPHA:79473
5498	PPOX	HP:0002750	Delayed skeletal maturation	1/1	OMIM:620483
5498	PPOX	HP:0002018	Nausea	HP:0040283	ORPHA:79473
5498	PPOX	HP:0002019	Constipation	-	OMIM:176200
5498	PPOX	HP:0002019	Constipation	HP:0040282	ORPHA:79473
5498	PPOX	HP:0002027	Abdominal pain	1/1	OMIM:176200
5498	PPOX	HP:0002027	Abdominal pain	HP:0040281	ORPHA:79473
5498	PPOX	HP:0002013	Vomiting	-	OMIM:176200
5498	PPOX	HP:0010473	Porphyrinuria	11/11	OMIM:176200
5498	PPOX	HP:0010473	Porphyrinuria	HP:0040281	ORPHA:79473
5498	PPOX	HP:0010472	Abnormal circulating porphyrin concentration	HP:0040281	ORPHA:79473
5498	PPOX	HP:0003474	Somatic sensory dysfunction	HP:0040283	ORPHA:79473
5498	PPOX	HP:0003470	Paralysis	-	OMIM:176200
5498	PPOX	HP:0003418	Back pain	HP:0040282	ORPHA:79473
5498	PPOX	HP:0002273	Tetraparesis	HP:0040282	ORPHA:79473
5498	PPOX	HP:0002203	Respiratory paralysis	HP:0040283	ORPHA:79473
5498	PPOX	HP:0100749	Chest pain	HP:0040282	ORPHA:79473
5498	PPOX	HP:0011999	Paranoia	HP:0040284	ORPHA:79473
5498	PPOX	HP:0001056	Milia	1/1	OMIM:620483
5498	PPOX	HP:0001056	Milia	HP:0040283	ORPHA:79473
5498	PPOX	HP:0002384	Focal impaired awareness seizure	1/1	OMIM:620483
5498	PPOX	HP:0001030	Fragile skin	2/2	OMIM:620483
5498	PPOX	HP:0001047	Atopic dermatitis	1/1	OMIM:620483
5498	PPOX	HP:0001010	Hypopigmentation of the skin	HP:0040283	ORPHA:79473
5498	PPOX	HP:0200037	Skin vesicle	HP:0040282	ORPHA:79473
5498	PPOX	HP:0009830	Peripheral neuropathy	-	OMIM:176200
5498	PPOX	HP:0001072	Thickened skin	HP:0040283	ORPHA:79473
5498	PPOX	HP:0200041	Skin erosion	1/1	OMIM:620483
5498	PPOX	HP:0200041	Skin erosion	HP:0040282	ORPHA:79473
5498	PPOX	HP:0100699	Scarring	1/1	OMIM:620483
5498	PPOX	HP:0100699	Scarring	HP:0040283	ORPHA:79473
5498	PPOX	HP:0003623	Neonatal onset	1/1	OMIM:620483
5498	PPOX	HP:0007178	Motor polyneuropathy	HP:0040282	ORPHA:79473
5498	PPOX	HP:0012622	Chronic kidney disease	HP:0040284	ORPHA:79473
5498	PPOX	HP:0001903	Anemia	HP:0040284	ORPHA:79473
5498	PPOX	HP:0010049	Short metacarpal	1/1	OMIM:620483
5498	PPOX	HP:0011355	Localized skin lesion	HP:0040283	ORPHA:79473
5498	PPOX	HP:0000763	Sensory neuropathy	1/1	OMIM:620483
5498	PPOX	HP:0000738	Hallucinations	HP:0040284	ORPHA:79473
5498	PPOX	HP:0000739	Anxiety	HP:0040282	ORPHA:79473
5498	PPOX	HP:0000709	Psychosis	-	OMIM:176200
5498	PPOX	HP:0000708	Atypical behavior	HP:0040282	ORPHA:79473
5498	PPOX	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:79473
5498	PPOX	HP:0011463	Childhood onset	1/1	OMIM:620483
5498	PPOX	HP:0011462	Young adult onset	1/1	OMIM:176200
5498	PPOX	HP:0034283	Increased fecal protoporphyrin concentration	4/4	OMIM:176200
5498	PPOX	HP:0034283	Increased fecal protoporphyrin concentration	1/1	OMIM:620483
5498	PPOX	HP:0003163	Elevated urinary delta-aminolevulinic acid	5/5	OMIM:176200
5498	PPOX	HP:0003163	Elevated urinary delta-aminolevulinic acid	HP:0040282	ORPHA:79473
5498	PPOX	HP:0000822	Hypertension	HP:0040283	ORPHA:79473
5498	PPOX	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:79473
5498	PPOX	HP:0000992	Cutaneous photosensitivity	-	OMIM:176200
5498	PPOX	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:79473
5498	PPOX	HP:0000992	Cutaneous photosensitivity	1/1	OMIM:620483
5498	PPOX	HP:0000953	Hyperpigmentation of the skin	HP:0040283	ORPHA:79473
5498	PPOX	HP:0000962	Hyperkeratosis	1/1	OMIM:620483
5498	PPOX	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:79473
5498	PPOX	HP:0008066	Abnormal blistering of the skin	1/1	OMIM:620483
5498	PPOX	HP:0009381	Short finger	1/1	OMIM:620483
5498	PPOX	HP:0012217	Increased urinary porphobilinogen	5/5	OMIM:176200
5498	PPOX	HP:0012217	Increased urinary porphobilinogen	HP:0040281	ORPHA:79473
5498	PPOX	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:79473
5498	PPOX	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:79473
5498	PPOX	HP:0002902	Hyponatremia	HP:0040283	ORPHA:79473
5498	PPOX	HP:0011003	High myopia	1/1	OMIM:620483
5498	PPOX	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:79473
5498	PPOX	HP:0001649	Tachycardia	-	OMIM:176200
5498	PPOX	HP:0001649	Tachycardia	HP:0040283	ORPHA:79473
5500	PPP1CB	HP:0001156	Brachydactyly	HP:0040283	ORPHA:2701
5500	PPP1CB	HP:0009890	High anterior hairline	1/8	OMIM:617506
5500	PPP1CB	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5500	PPP1CB	HP:0001293	Cranial nerve compression	-	OMIM:131300
5500	PPP1CB	HP:0001290	Generalized hypotonia	2/4	OMIM:617506
5500	PPP1CB	HP:0001252	Hypotonia	2/7	OMIM:615777
5500	PPP1CB	HP:0001252	Hypotonia	6/12	OMIM:617506
5500	PPP1CB	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2701
5500	PPP1CB	HP:0001249	Intellectual disability	5/7	OMIM:615777
5500	PPP1CB	HP:0001263	Global developmental delay	-	OMIM:615777
5500	PPP1CB	HP:0001263	Global developmental delay	18/18	OMIM:617506
5500	PPP1CB	HP:0001231	Abnormal fingernail morphology	HP:0040283	ORPHA:2701
5500	PPP1CB	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:2701
5500	PPP1CB	HP:0002553	Highly arched eyebrow	1/8	OMIM:617506
5500	PPP1CB	HP:0002515	Waddling gait	54/102	OMIM:131300
5500	PPP1CB	HP:0001382	Joint hypermobility	-	OMIM:615777
5500	PPP1CB	HP:0001382	Joint hypermobility	4/8	OMIM:617506
5500	PPP1CB	HP:0001363	Craniosynostosis	1/1	OMIM:617506
5500	PPP1CB	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5500	PPP1CB	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2701
5500	PPP1CB	HP:0000028	Cryptorchidism	1/2	OMIM:617506
5500	PPP1CB	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5500	PPP1CB	HP:0008872	Feeding difficulties in infancy	3/4	OMIM:617506
5500	PPP1CB	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5500	PPP1CB	HP:0001324	Muscle weakness	40/96	OMIM:131300
5500	PPP1CB	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5500	PPP1CB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5500	PPP1CB	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
5500	PPP1CB	HP:0000006	Autosomal dominant inheritance	-	OMIM:617506
5500	PPP1CB	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5500	PPP1CB	HP:0001305	Dandy-Walker malformation	1/3	OMIM:617506
5500	PPP1CB	HP:0002650	Scoliosis	12/14	OMIM:131300
5500	PPP1CB	HP:0002650	Scoliosis	1/1	OMIM:617506
5500	PPP1CB	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5500	PPP1CB	HP:0002619	Varicose veins	-	OMIM:153400
5500	PPP1CB	HP:0002616	Aortic root aneurysm	1/8	OMIM:617506
5500	PPP1CB	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5500	PPP1CB	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5500	PPP1CB	HP:0000179	Thick lower lip vermilion	HP:0040283	ORPHA:2701
5500	PPP1CB	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5500	PPP1CB	HP:0000193	Bifid uvula	1/8	OMIM:617506
5500	PPP1CB	HP:0000175	Cleft palate	5/39	OMIM:153400
5500	PPP1CB	HP:0000175	Cleft palate	2/7	OMIM:615777
5500	PPP1CB	HP:0000174	Abnormal palate morphology	HP:0040283	ORPHA:2701
5500	PPP1CB	HP:0001480	Freckling	1/4	OMIM:617506
5500	PPP1CB	HP:0007678	Lacrimal duct stenosis	1/4	OMIM:617506
5500	PPP1CB	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2701
5500	PPP1CB	HP:0002750	Delayed skeletal maturation	3/6	OMIM:617506
5500	PPP1CB	HP:0002002	Deep philtrum	1/1	OMIM:617506
5500	PPP1CB	HP:0002002	Deep philtrum	HP:0040282	ORPHA:2701
5500	PPP1CB	HP:0002007	Frontal bossing	1/8	OMIM:617506
5500	PPP1CB	HP:0003388	Easy fatigability	36/76	OMIM:131300
5500	PPP1CB	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5500	PPP1CB	HP:0011712	Complete right bundle branch block	1/3	OMIM:617506
5500	PPP1CB	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:2701
5500	PPP1CB	HP:0002162	Low posterior hairline	1/8	OMIM:617506
5500	PPP1CB	HP:0003577	Congenital onset	-	OMIM:617506
5500	PPP1CB	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
5500	PPP1CB	HP:0002217	Slow-growing hair	6/13	OMIM:617506
5500	PPP1CB	HP:0002212	Curly hair	1/4	OMIM:617506
5500	PPP1CB	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:2701
5500	PPP1CB	HP:0002208	Coarse hair	1/1	OMIM:617506
5500	PPP1CB	HP:0009743	Distichiasis	42/42	OMIM:153400
5500	PPP1CB	HP:0010648	Dermal translucency	1/8	OMIM:617506
5500	PPP1CB	HP:0011968	Feeding difficulties	3/4	OMIM:617506
5500	PPP1CB	HP:0003510	Severe short stature	7/7	OMIM:615777
5500	PPP1CB	HP:0007099	Chiari type I malformation	1/4	OMIM:617506
5500	PPP1CB	HP:0001004	Lymphedema	-	OMIM:153400
5500	PPP1CB	HP:0002315	Headache	-	OMIM:131300
5500	PPP1CB	HP:0004976	Knee dislocation	6/7	OMIM:615777
5500	PPP1CB	HP:0100658	Cellulitis	2/6	OMIM:153400
5500	PPP1CB	HP:0009811	Abnormality of the elbow	HP:0040283	ORPHA:2701
5500	PPP1CB	HP:0009803	Short phalanx of finger	-	OMIM:615777
5500	PPP1CB	HP:0009763	Limb pain	63/92	OMIM:131300
5500	PPP1CB	HP:0004969	Peripheral pulmonary artery stenosis	1/7	OMIM:617506
5500	PPP1CB	HP:0003621	Juvenile onset	-	OMIM:131300
5500	PPP1CB	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5500	PPP1CB	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5500	PPP1CB	HP:0000639	Nystagmus	1/4	OMIM:617506
5500	PPP1CB	HP:6001056	Out-toeing	-	OMIM:131300
5500	PPP1CB	HP:0000651	Diplopia	-	OMIM:131300
5500	PPP1CB	HP:0000613	Photophobia	10/49	OMIM:153400
5500	PPP1CB	HP:0001956	Truncal obesity	2/7	OMIM:615777
5500	PPP1CB	HP:0000609	Optic nerve hypoplasia	1/4	OMIM:617506
5500	PPP1CB	HP:0001903	Anemia	HP:0040283	OMIM:131300
5500	PPP1CB	HP:0010049	Short metacarpal	-	OMIM:615777
5500	PPP1CB	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
5500	PPP1CB	HP:0000678	Dental crowding	-	OMIM:615777
5500	PPP1CB	HP:0000687	Widely spaced teeth	1/8	OMIM:617506
5500	PPP1CB	HP:0000656	Ectropion	2/43	OMIM:153400
5500	PPP1CB	HP:0000670	Carious teeth	-	OMIM:131300
5500	PPP1CB	HP:0000670	Carious teeth	HP:0040283	ORPHA:2701
5500	PPP1CB	HP:0011304	Broad thumb	2/7	OMIM:615777
5500	PPP1CB	HP:0000668	Hypodontia	-	OMIM:615777
5500	PPP1CB	HP:0000664	Synophrys	-	OMIM:615777
5500	PPP1CB	HP:0004322	Short stature	HP:0040281	ORPHA:2701
5500	PPP1CB	HP:0004322	Short stature	4/5	OMIM:617506
5500	PPP1CB	HP:0004396	Poor appetite	-	OMIM:131300
5500	PPP1CB	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5500	PPP1CB	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5500	PPP1CB	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5500	PPP1CB	HP:0003011	Abnormality of the musculature	-	OMIM:153400
5500	PPP1CB	HP:0003026	Short long bone	7/7	OMIM:615777
5500	PPP1CB	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5500	PPP1CB	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:2701
5500	PPP1CB	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5500	PPP1CB	HP:0000767	Pectus excavatum	4/7	OMIM:617506
5500	PPP1CB	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5500	PPP1CB	HP:0000768	Pectus carinatum	1/1	OMIM:617506
5500	PPP1CB	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5500	PPP1CB	HP:0000739	Anxiety	2/4	OMIM:617506
5500	PPP1CB	HP:0000750	Delayed speech and language development	-	OMIM:615777
5500	PPP1CB	HP:0000750	Delayed speech and language development	8/8	OMIM:617506
5500	PPP1CB	HP:0011461	Fetal onset	7/7	OMIM:615777
5500	PPP1CB	HP:0011461	Fetal onset	1/1	OMIM:617506
5500	PPP1CB	HP:0000774	Narrow chest	2/7	OMIM:615777
5500	PPP1CB	HP:0003196	Short nose	HP:0040281	ORPHA:2701
5500	PPP1CB	HP:0000926	Platyspondyly	1/7	OMIM:615777
5500	PPP1CB	HP:0003180	Flat acetabular roof	-	OMIM:615777
5500	PPP1CB	HP:0004482	Relative macrocephaly	3/4	OMIM:617506
5500	PPP1CB	HP:0004482	Relative macrocephaly	-	OMIM:615777
5500	PPP1CB	HP:0004467	Preauricular pit	1/8	OMIM:617506
5500	PPP1CB	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5500	PPP1CB	HP:0012804	Corneal ulceration	-	OMIM:153400
5500	PPP1CB	HP:0000823	Delayed puberty	-	OMIM:131300
5500	PPP1CB	HP:0000894	Short clavicles	-	OMIM:615777
5500	PPP1CB	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5500	PPP1CB	HP:0010310	Chylothorax	1/6	OMIM:153400
5500	PPP1CB	HP:0000957	Cafe-au-lait spot	1/4	OMIM:617506
5500	PPP1CB	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5500	PPP1CB	HP:0000963	Thin skin	2/8	OMIM:617506
5500	PPP1CB	HP:0008070	Sparse hair	1/1	OMIM:617506
5500	PPP1CB	HP:0011675	Arrhythmia	-	OMIM:153400
5500	PPP1CB	HP:0000286	Epicanthus	HP:0040282	ORPHA:2701
5500	PPP1CB	HP:0000286	Epicanthus	1/7	OMIM:615777
5500	PPP1CB	HP:0000286	Epicanthus	1/4	OMIM:617506
5500	PPP1CB	HP:0000280	Coarse facial features	2/7	OMIM:615777
5500	PPP1CB	HP:0000256	Macrocephaly	4/4	OMIM:617506
5500	PPP1CB	HP:0005108	Abnormal intervertebral disk morphology	HP:0040283	ORPHA:2701
5500	PPP1CB	HP:0002827	Hip dislocation	3/7	OMIM:615777
5500	PPP1CB	HP:0002808	Kyphosis	2/5	OMIM:153400
5500	PPP1CB	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:2701
5500	PPP1CB	HP:0000252	Microcephaly	-	OMIM:615777
5500	PPP1CB	HP:0000219	Thin upper lip vermilion	3/8	OMIM:617506
5500	PPP1CB	HP:0000218	High palate	3/8	OMIM:617506
5500	PPP1CB	HP:0001561	Polyhydramnios	1/1	OMIM:617506
5500	PPP1CB	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:2701
5500	PPP1CB	HP:0002857	Genu valgum	-	OMIM:131300
5500	PPP1CB	HP:0000207	Triangular mouth	2/8	OMIM:617506
5500	PPP1CB	HP:0001533	Slender build	-	OMIM:131300
5500	PPP1CB	HP:0000204	Cleft upper lip	-	OMIM:153400
5500	PPP1CB	HP:0001508	Failure to thrive	6/8	OMIM:617506
5500	PPP1CB	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5500	PPP1CB	HP:0007807	Optic nerve compression	-	OMIM:131300
5500	PPP1CB	HP:0012368	Flat face	7/7	OMIM:615777
5500	PPP1CB	HP:0000396	Overfolded helix	1/8	OMIM:617506
5500	PPP1CB	HP:0000391	Thickened helices	1/8	OMIM:617506
5500	PPP1CB	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5500	PPP1CB	HP:0005180	Tricuspid regurgitation	1/8	OMIM:617506
5500	PPP1CB	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2701
5500	PPP1CB	HP:0000365	Hearing impairment	10/67	OMIM:131300
5500	PPP1CB	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:2701
5500	PPP1CB	HP:0000358	Posteriorly rotated ears	8/14	OMIM:617506
5500	PPP1CB	HP:0000369	Low-set ears	6/12	OMIM:617506
5500	PPP1CB	HP:0000341	Narrow forehead	1/1	OMIM:617506
5500	PPP1CB	HP:0000343	Long philtrum	1/7	OMIM:615777
5500	PPP1CB	HP:0000343	Long philtrum	1/8	OMIM:617506
5500	PPP1CB	HP:0011001	Increased bone mineral density	-	OMIM:131300
5500	PPP1CB	HP:0001680	Coarctation of aorta	4/16	OMIM:617506
5500	PPP1CB	HP:0000348	High forehead	1/1	OMIM:617506
5500	PPP1CB	HP:0000347	Micrognathia	2/5	OMIM:153400
5500	PPP1CB	HP:0012304	Hypoplastic aortic arch	1/8	OMIM:617506
5500	PPP1CB	HP:0000319	Smooth philtrum	1/8	OMIM:617506
5500	PPP1CB	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2701
5500	PPP1CB	HP:0000316	Hypertelorism	9/14	OMIM:617506
5500	PPP1CB	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
5500	PPP1CB	HP:0001643	Patent ductus arteriosus	-	OMIM:617506
5500	PPP1CB	HP:0000311	Round face	2/7	OMIM:615777
5500	PPP1CB	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:2701
5500	PPP1CB	HP:0001642	Pulmonic stenosis	1/3	OMIM:617506
5500	PPP1CB	HP:0000329	Facial hemangioma	1/4	OMIM:617506
5500	PPP1CB	HP:0001653	Mitral regurgitation	1/8	OMIM:617506
5500	PPP1CB	HP:0001655	Patent foramen ovale	4/9	OMIM:617506
5500	PPP1CB	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
5500	PPP1CB	HP:0001629	Ventricular septal defect	1/1	OMIM:617506
5500	PPP1CB	HP:0002970	Genu varum	-	OMIM:615777
5500	PPP1CB	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:2701
5500	PPP1CB	HP:0001639	Hypertrophic cardiomyopathy	0/3	OMIM:617506
5500	PPP1CB	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
5500	PPP1CB	HP:0001631	Atrial septal defect	1/7	OMIM:617506
5500	PPP1CB	HP:0000303	Mandibular prognathia	-	OMIM:131300
5500	PPP1CB	HP:0006610	Wide intermamillary distance	1/1	OMIM:617506
5500	PPP1CB	HP:0005338	Sparse lateral eyebrow	1/1	OMIM:617506
5500	PPP1CB	HP:0000400	Macrotia	HP:0040282	ORPHA:2701
5500	PPP1CB	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5500	PPP1CB	HP:0000476	Cystic hygroma	2/43	OMIM:153400
5500	PPP1CB	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
5500	PPP1CB	HP:0000494	Downslanted palpebral fissures	5/14	OMIM:617506
5500	PPP1CB	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2701
5500	PPP1CB	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
5500	PPP1CB	HP:0012450	Chronic constipation	2/8	OMIM:617506
5500	PPP1CB	HP:0000475	Broad neck	2/9	OMIM:617506
5500	PPP1CB	HP:0000470	Short neck	1/7	OMIM:615777
5500	PPP1CB	HP:0000470	Short neck	2/5	OMIM:617506
5500	PPP1CB	HP:0000465	Webbed neck	HP:0040281	ORPHA:2701
5500	PPP1CB	HP:0000465	Webbed neck	2/9	OMIM:617506
5500	PPP1CB	HP:0000465	Webbed neck	6/43	OMIM:153400
5500	PPP1CB	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5500	PPP1CB	HP:0001763	Pes planus	1/7	OMIM:615777
5500	PPP1CB	HP:0000445	Wide nose	2/8	OMIM:617506
5500	PPP1CB	HP:0000430	Underdeveloped nasal alae	1/8	OMIM:617506
5500	PPP1CB	HP:0001840	Metatarsus adductus	-	OMIM:615777
5500	PPP1CB	HP:0000520	Proptosis	2/4	OMIM:131300
5500	PPP1CB	HP:0000520	Proptosis	7/7	OMIM:615777
5500	PPP1CB	HP:0000509	Conjunctivitis	-	OMIM:153400
5500	PPP1CB	HP:0000508	Ptosis	2/39	OMIM:153400
5500	PPP1CB	HP:0000508	Ptosis	2/9	OMIM:617506
5500	PPP1CB	HP:0001800	Hypoplastic toenails	HP:0040283	ORPHA:2701
5500	PPP1CB	HP:0000582	Upslanted palpebral fissure	1/8	OMIM:617506
5500	PPP1CB	HP:0000592	Blue sclerae	2/7	OMIM:615777
5500	PPP1CB	HP:0011220	Prominent forehead	3/8	OMIM:617506
5500	PPP1CB	HP:0000568	Microphthalmia	1/6	OMIM:153400
5500	PPP1CB	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5500	PPP1CB	HP:0012514	Lower limb pain	4/4	OMIM:131300
5506	PPP1R3A	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
5506	PPP1R3A	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
5506	PPP1R3A	HP:0003584	Late onset	-	OMIM:125853
5506	PPP1R3A	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
5506	PPP1R3A	HP:0000855	Insulin resistance	-	OMIM:125853
5515	PPP2CA	HP:0001252	Hypotonia	11/16	OMIM:618354
5515	PPP2CA	HP:0001263	Global developmental delay	16/16	OMIM:618354
5515	PPP2CA	HP:0007359	Focal-onset seizure	1/16	OMIM:618354
5515	PPP2CA	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/16	OMIM:618354
5515	PPP2CA	HP:0000023	Inguinal hernia	1/16	OMIM:618354
5515	PPP2CA	HP:0001357	Plagiocephaly	3/16	OMIM:618354
5515	PPP2CA	HP:0000006	Autosomal dominant inheritance	-	OMIM:618354
5515	PPP2CA	HP:0002007	Frontal bossing	2/16	OMIM:618354
5515	PPP2CA	HP:0002069	Bilateral tonic-clonic seizure	6/16	OMIM:618354
5515	PPP2CA	HP:0002079	Hypoplasia of the corpus callosum	2/16	OMIM:618354
5515	PPP2CA	HP:0002121	Generalized non-motor (absence) seizure	1/16	OMIM:618354
5515	PPP2CA	HP:0002119	Ventriculomegaly	4/16	OMIM:618354
5515	PPP2CA	HP:0002188	Delayed CNS myelination	2/16	OMIM:618354
5515	PPP2CA	HP:0003593	Infantile onset	4/9	OMIM:618354
5515	PPP2CA	HP:0100716	Self-injurious behavior	1/16	OMIM:618354
5515	PPP2CA	HP:0007018	Attention deficit hyperactivity disorder	2/16	OMIM:618354
5515	PPP2CA	HP:0011968	Feeding difficulties	9/15	OMIM:618354
5515	PPP2CA	HP:0002365	Hypoplasia of the brainstem	1/16	OMIM:618354
5515	PPP2CA	HP:0002376	Developmental regression	2/16	OMIM:618354
5515	PPP2CA	HP:0003623	Neonatal onset	1/9	OMIM:618354
5515	PPP2CA	HP:0003621	Juvenile onset	2/9	OMIM:618354
5515	PPP2CA	HP:0000629	Periorbital fullness	2/16	OMIM:618354
5515	PPP2CA	HP:0031936	Delayed ability to walk	-	OMIM:618354
5515	PPP2CA	HP:0000733	Motor stereotypy	1/16	OMIM:618354
5515	PPP2CA	HP:0000750	Delayed speech and language development	10/14	OMIM:618354
5515	PPP2CA	HP:0000729	Autistic behavior	5/16	OMIM:618354
5515	PPP2CA	HP:0011463	Childhood onset	2/9	OMIM:618354
5515	PPP2CA	HP:0011623	Muscular ventricular septal defect	1/16	OMIM:618354
5515	PPP2CA	HP:0000954	Single transverse palmar crease	5/16	OMIM:618354
5515	PPP2CA	HP:0000286	Epicanthus	1/16	OMIM:618354
5515	PPP2CA	HP:0000256	Macrocephaly	2/16	OMIM:618354
5515	PPP2CA	HP:0000252	Microcephaly	2/16	OMIM:618354
5515	PPP2CA	HP:0000218	High palate	2/16	OMIM:618354
5515	PPP2CA	HP:0001537	Umbilical hernia	1/16	OMIM:618354
5515	PPP2CA	HP:0000337	Broad forehead	2/16	OMIM:618354
5515	PPP2CA	HP:0000316	Hypertelorism	1/16	OMIM:618354
5515	PPP2CA	HP:0000322	Short philtrum	3/16	OMIM:618354
5515	PPP2CA	HP:0001631	Atrial septal defect	1/16	OMIM:618354
5515	PPP2CA	HP:0000485	Megalocornea	1/16	OMIM:618354
5515	PPP2CA	HP:0000455	Broad nasal tip	3/16	OMIM:618354
5515	PPP2CA	HP:0000520	Proptosis	2/16	OMIM:618354
5515	PPP2CA	HP:0000505	Visual impairment	-	OMIM:618354
5518	PPP2R1A	HP:0002465	Poor speech	HP:0040282	ORPHA:457284
5518	PPP2R1A	HP:0010864	Intellectual disability, severe	5/5	OMIM:616362
5518	PPP2R1A	HP:0001274	Agenesis of corpus callosum	3/5	OMIM:616362
5518	PPP2R1A	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:457284
5518	PPP2R1A	HP:0001250	Seizure	6/8	OMIM:616362
5518	PPP2R1A	HP:0001250	Seizure	HP:0040281	ORPHA:457284
5518	PPP2R1A	HP:0001252	Hypotonia	6/8	OMIM:616362
5518	PPP2R1A	HP:0001252	Hypotonia	HP:0040282	ORPHA:457284
5518	PPP2R1A	HP:0001249	Intellectual disability	3/3	OMIM:616362
5518	PPP2R1A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:457284
5518	PPP2R1A	HP:0001263	Global developmental delay	5/5	OMIM:616362
5518	PPP2R1A	HP:0001263	Global developmental delay	HP:0040282	ORPHA:457284
5518	PPP2R1A	HP:0002540	Inability to walk	3/5	OMIM:616362
5518	PPP2R1A	HP:0001385	Hip dysplasia	1/5	OMIM:616362
5518	PPP2R1A	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0001382	Joint hypermobility	2/8	OMIM:616362
5518	PPP2R1A	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0001357	Plagiocephaly	2/3	OMIM:616362
5518	PPP2R1A	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:457284
5518	PPP2R1A	HP:0001344	Absent speech	4/5	OMIM:616362
5518	PPP2R1A	HP:0001344	Absent speech	HP:0040282	ORPHA:457284
5518	PPP2R1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:616362
5518	PPP2R1A	HP:0002650	Scoliosis	2/5	OMIM:616362
5518	PPP2R1A	HP:0002650	Scoliosis	HP:0040282	ORPHA:457284
5518	PPP2R1A	HP:0000194	Open mouth	-	OMIM:616362
5518	PPP2R1A	HP:0000194	Open mouth	HP:0040282	ORPHA:457284
5518	PPP2R1A	HP:0000151	Aplasia of the uterus	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0000122	Unilateral renal agenesis	1/5	OMIM:616362
5518	PPP2R1A	HP:0000122	Unilateral renal agenesis	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0002066	Gait ataxia	2/2	OMIM:616362
5518	PPP2R1A	HP:0002079	Hypoplasia of the corpus callosum	5/8	OMIM:616362
5518	PPP2R1A	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:457284
5518	PPP2R1A	HP:0002119	Ventriculomegaly	2/5	OMIM:616362
5518	PPP2R1A	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:457284
5518	PPP2R1A	HP:0002188	Delayed CNS myelination	2/5	OMIM:616362
5518	PPP2R1A	HP:0002194	Delayed gross motor development	1/3	OMIM:616362
5518	PPP2R1A	HP:0100704	Cerebral visual impairment	2/5	OMIM:616362
5518	PPP2R1A	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:457284
5518	PPP2R1A	HP:0010721	Abnormal hair whorl	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0010721	Abnormal hair whorl	1/3	OMIM:616362
5518	PPP2R1A	HP:0010804	Tented upper lip vermilion	-	OMIM:616362
5518	PPP2R1A	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0010055	Broad hallux	1/3	OMIM:616362
5518	PPP2R1A	HP:0010055	Broad hallux	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0006955	Olivopontocerebellar hypoplasia	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0000752	Hyperactivity	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0000767	Pectus excavatum	1/3	OMIM:616362
5518	PPP2R1A	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0009179	Deviation of the 5th finger	1/3	OMIM:616362
5518	PPP2R1A	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0003250	Aplasia of the vagina	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0100259	Postaxial polydactyly	1/5	OMIM:616362
5518	PPP2R1A	HP:0100259	Postaxial polydactyly	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0000297	Facial hypotonia	-	OMIM:616362
5518	PPP2R1A	HP:0000297	Facial hypotonia	HP:0040282	ORPHA:457284
5518	PPP2R1A	HP:0000238	Hydrocephalus	1/3	OMIM:616362
5518	PPP2R1A	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0000252	Microcephaly	2/5	OMIM:616362
5518	PPP2R1A	HP:0012304	Hypoplastic aortic arch	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0000316	Hypertelorism	-	OMIM:616362
5518	PPP2R1A	HP:0000316	Hypertelorism	HP:0040282	ORPHA:457284
5518	PPP2R1A	HP:0025607	Upper eyelid entropion	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0000324	Facial asymmetry	1/3	OMIM:616362
5518	PPP2R1A	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0000494	Downslanted palpebral fissures	-	OMIM:616362
5518	PPP2R1A	HP:0000463	Anteverted nares	1/3	OMIM:616362
5518	PPP2R1A	HP:0000463	Anteverted nares	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0012448	Delayed myelination	HP:0040282	ORPHA:457284
5518	PPP2R1A	HP:0012450	Chronic constipation	1/5	OMIM:616362
5518	PPP2R1A	HP:0005487	Prominent metopic ridge	1/3	OMIM:616362
5518	PPP2R1A	HP:0005487	Prominent metopic ridge	HP:0040283	ORPHA:457284
5518	PPP2R1A	HP:0000505	Visual impairment	1/3	OMIM:616362
5519	PPP2R1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:211980
5519	PPP2R1B	HP:0001442	Typified by somatic mosaicism	-	OMIM:211980
5519	PPP2R1B	HP:0030078	Lung adenocarcinoma	-	OMIM:211980
5519	PPP2R1B	HP:0006519	Alveolar cell carcinoma	-	OMIM:211980
5519	PPP2R1B	HP:0030358	Non-small cell lung carcinoma	-	OMIM:211980
5521	PPP2R2B	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:98762
5521	PPP2R2B	HP:0002406	Limb dysmetria	HP:0040282	ORPHA:98762
5521	PPP2R2B	HP:0001272	Cerebellar atrophy	-	OMIM:604326
5521	PPP2R2B	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:98762
5521	PPP2R2B	HP:0001288	Gait disturbance	HP:0040283	ORPHA:98762
5521	PPP2R2B	HP:0001251	Ataxia	HP:0040282	ORPHA:98762
5521	PPP2R2B	HP:0001260	Dysarthria	-	OMIM:604326
5521	PPP2R2B	HP:0002530	Axial dystonia	-	OMIM:604326
5521	PPP2R2B	HP:0001347	Hyperreflexia	-	OMIM:604326
5521	PPP2R2B	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:98762
5521	PPP2R2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:604326
5521	PPP2R2B	HP:0001310	Dysmetria	-	OMIM:604326
5521	PPP2R2B	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:98762
5521	PPP2R2B	HP:0001300	Parkinsonism	-	OMIM:604326
5521	PPP2R2B	HP:0001300	Parkinsonism	HP:0040282	ORPHA:98762
5521	PPP2R2B	HP:0002080	Intention tremor	HP:0040283	ORPHA:98762
5521	PPP2R2B	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:98762
5521	PPP2R2B	HP:0002067	Bradykinesia	HP:0040283	ORPHA:98762
5521	PPP2R2B	HP:0002075	Dysdiadochokinesis	-	OMIM:604326
5521	PPP2R2B	HP:0002073	Progressive cerebellar ataxia	-	OMIM:604326
5521	PPP2R2B	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:98762
5521	PPP2R2B	HP:0002120	Cerebral cortical atrophy	-	OMIM:604326
5521	PPP2R2B	HP:0002174	Postural tremor	HP:0040283	ORPHA:98762
5521	PPP2R2B	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:98762
5521	PPP2R2B	HP:0002375	Hypokinesia	HP:0040283	ORPHA:98762
5521	PPP2R2B	HP:0002345	Action tremor	-	OMIM:604326
5521	PPP2R2B	HP:0002345	Action tremor	HP:0040282	ORPHA:98762
5521	PPP2R2B	HP:0002346	Head tremor	-	OMIM:604326
5521	PPP2R2B	HP:0002317	Unsteady gait	HP:0040283	ORPHA:98762
5521	PPP2R2B	HP:0007141	Sensorimotor neuropathy	-	OMIM:604326
5521	PPP2R2B	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:98762
5521	PPP2R2B	HP:0000739	Anxiety	-	OMIM:604326
5521	PPP2R2B	HP:0000746	Delusion	-	OMIM:604326
5521	PPP2R2B	HP:0000716	Depression	-	OMIM:604326
5521	PPP2R2B	HP:0000726	Dementia	-	OMIM:604326
5521	PPP2R2B	HP:0000726	Dementia	HP:0040283	ORPHA:98762
5521	PPP2R2B	HP:0000708	Atypical behavior	HP:0040283	ORPHA:98762
5521	PPP2R2B	HP:0030188	Tremor by anatomical site	HP:0040282	ORPHA:98762
5521	PPP2R2B	HP:0000317	Facial myokymia	-	OMIM:604326
5521	PPP2R2B	HP:0000496	Abnormality of eye movement	-	OMIM:604326
5524	PTPA	HP:0001249	Intellectual disability	4/4	OMIM:620482
5524	PTPA	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	4/4	OMIM:620482
5524	PTPA	HP:0000007	Autosomal recessive inheritance	-	OMIM:620482
5524	PTPA	HP:0002067	Bradykinesia	3/4	OMIM:620482
5524	PTPA	HP:0002063	Rigidity	1/4	OMIM:620482
5524	PTPA	HP:0002322	Resting tremor	2/4	OMIM:620482
5524	PTPA	HP:0002307	Drooling	1/4	OMIM:620482
5524	PTPA	HP:0003621	Juvenile onset	4/4	OMIM:620482
5524	PTPA	HP:0000739	Anxiety	1/4	OMIM:620482
5524	PTPA	HP:0000734	Disinhibition	1/4	OMIM:620482
5524	PTPA	HP:0000716	Depression	1/4	OMIM:620482
5524	PTPA	HP:0012452	Restless legs	1/4	OMIM:620482
5528	PPP2R5D	HP:0002465	Poor speech	HP:0040282	ORPHA:457279
5528	PPP2R5D	HP:0001137	Alternating esotropia	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:457279
5528	PPP2R5D	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:457279
5528	PPP2R5D	HP:0001290	Generalized hypotonia	1/4	OMIM:616355
5528	PPP2R5D	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:457279
5528	PPP2R5D	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:457279
5528	PPP2R5D	HP:0001284	Areflexia	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0001250	Seizure	1/4	OMIM:616355
5528	PPP2R5D	HP:0001250	Seizure	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0001252	Hypotonia	10/10	OMIM:616355
5528	PPP2R5D	HP:0001251	Ataxia	HP:0040283	ORPHA:457279
5528	PPP2R5D	HP:0001249	Intellectual disability	15/15	OMIM:616355
5528	PPP2R5D	HP:0001263	Global developmental delay	3/4	OMIM:616355
5528	PPP2R5D	HP:0001263	Global developmental delay	HP:0040281	ORPHA:457279
5528	PPP2R5D	HP:0002558	Supernumerary nipple	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:457279
5528	PPP2R5D	HP:0001374	Congenital hip dislocation	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0001374	Congenital hip dislocation	1/4	OMIM:616355
5528	PPP2R5D	HP:0001357	Plagiocephaly	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0031165	Multifocal seizures	2/11	OMIM:616355
5528	PPP2R5D	HP:0001344	Absent speech	5/11	OMIM:616355
5528	PPP2R5D	HP:0001344	Absent speech	HP:0040282	ORPHA:457279
5528	PPP2R5D	HP:0000006	Autosomal dominant inheritance	-	OMIM:616355
5528	PPP2R5D	HP:0002650	Scoliosis	2/11	OMIM:616355
5528	PPP2R5D	HP:0002650	Scoliosis	HP:0040282	ORPHA:457279
5528	PPP2R5D	HP:0001319	Neonatal hypotonia	HP:0040281	ORPHA:457279
5528	PPP2R5D	HP:0000194	Open mouth	-	OMIM:616355
5528	PPP2R5D	HP:0000176	Submucous cleft hard palate	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0002021	Pyloric stenosis	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0002021	Pyloric stenosis	1/4	OMIM:616355
5528	PPP2R5D	HP:0002028	Chronic diarrhea	1/4	OMIM:616355
5528	PPP2R5D	HP:0002028	Chronic diarrhea	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0005988	Congenital muscular torticollis	1/4	OMIM:616355
5528	PPP2R5D	HP:0005988	Congenital muscular torticollis	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0002007	Frontal bossing	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0011800	Midface retrusion	HP:0040283	ORPHA:457279
5528	PPP2R5D	HP:0002066	Gait ataxia	5/9	OMIM:616355
5528	PPP2R5D	HP:0002119	Ventriculomegaly	3/15	OMIM:616355
5528	PPP2R5D	HP:0011937	Hypoplastic fifth toenail	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0100702	Arachnoid cyst	HP:0040283	ORPHA:457279
5528	PPP2R5D	HP:0002389	Cavum septum pellucidum	HP:0040283	ORPHA:457279
5528	PPP2R5D	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:457279
5528	PPP2R5D	HP:0002317	Unsteady gait	HP:0040282	ORPHA:457279
5528	PPP2R5D	HP:0001943	Hypoglycemia	1/4	OMIM:616355
5528	PPP2R5D	HP:0001943	Hypoglycemia	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:457279
5528	PPP2R5D	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:457279
5528	PPP2R5D	HP:0031936	Delayed ability to walk	9/11	OMIM:616355
5528	PPP2R5D	HP:0031936	Delayed ability to walk	HP:0040281	ORPHA:457279
5528	PPP2R5D	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:457279
5528	PPP2R5D	HP:0000750	Delayed speech and language development	11/11	OMIM:616355
5528	PPP2R5D	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:457279
5528	PPP2R5D	HP:0000744	Low frustration tolerance	HP:0040282	ORPHA:457279
5528	PPP2R5D	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:457279
5528	PPP2R5D	HP:0000729	Autistic behavior	HP:0040282	ORPHA:457279
5528	PPP2R5D	HP:0003196	Short nose	HP:0040283	ORPHA:457279
5528	PPP2R5D	HP:0100350	Contracture of the proximal interphalangeal joint of the 4th toe	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0000297	Facial hypotonia	-	OMIM:616355
5528	PPP2R5D	HP:0000260	Wide anterior fontanel	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0000256	Macrocephaly	1/4	OMIM:616355
5528	PPP2R5D	HP:0000256	Macrocephaly	HP:0040281	ORPHA:457279
5528	PPP2R5D	HP:0000276	Long face	HP:0040283	ORPHA:457279
5528	PPP2R5D	HP:0000268	Dolichocephaly	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0000238	Hydrocephalus	2/15	OMIM:616355
5528	PPP2R5D	HP:0001583	Rotary nystagmus	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0000219	Thin upper lip vermilion	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0000218	High palate	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0001511	Intrauterine growth retardation	1/11	OMIM:616355
5528	PPP2R5D	HP:0012378	Fatigue	2/11	OMIM:616355
5528	PPP2R5D	HP:0005216	Impaired mastication	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0000369	Low-set ears	HP:0040283	ORPHA:457279
5528	PPP2R5D	HP:0000341	Narrow forehead	1/4	OMIM:616355
5528	PPP2R5D	HP:0000343	Long philtrum	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0001647	Bicuspid aortic valve	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0000316	Hypertelorism	-	OMIM:616355
5528	PPP2R5D	HP:0000325	Triangular face	HP:0040283	ORPHA:457279
5528	PPP2R5D	HP:0000324	Facial asymmetry	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0001655	Patent foramen ovale	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:457279
5528	PPP2R5D	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:457279
5528	PPP2R5D	HP:0001631	Atrial septal defect	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0000483	Astigmatism	HP:0040284	ORPHA:457279
5528	PPP2R5D	HP:0000486	Strabismus	2/15	OMIM:616355
5528	PPP2R5D	HP:0000486	Strabismus	HP:0040283	ORPHA:457279
5528	PPP2R5D	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:457279
5528	PPP2R5D	HP:0000494	Downslanted palpebral fissures	1/4	OMIM:616355
5528	PPP2R5D	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:457279
5528	PPP2R5D	HP:0000490	Deeply set eye	1/4	OMIM:616355
5528	PPP2R5D	HP:0000508	Ptosis	1/11	OMIM:616355
5528	PPP2R5D	HP:0011220	Prominent forehead	HP:0040283	ORPHA:457279
5528	PPP2R5D	HP:0000545	Myopia	1/4	OMIM:616355
5530	PPP3CA	HP:0001156	Brachydactyly	2/2	OMIM:618265
5530	PPP3CA	HP:0007270	Atypical absence seizure	1/6	OMIM:617711
5530	PPP3CA	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
5530	PPP3CA	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
5530	PPP3CA	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0001250	Seizure	HP:0040282	ORPHA:442835
5530	PPP3CA	HP:0001250	Seizure	6/6	OMIM:617711
5530	PPP3CA	HP:0001252	Hypotonia	4/6	OMIM:617711
5530	PPP3CA	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
5530	PPP3CA	HP:0001249	Intellectual disability	2/2	OMIM:618265
5530	PPP3CA	HP:0001249	Intellectual disability	6/6	OMIM:617711
5530	PPP3CA	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
5530	PPP3CA	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
5530	PPP3CA	HP:0001263	Global developmental delay	2/2	OMIM:618265
5530	PPP3CA	HP:0001263	Global developmental delay	-	OMIM:617711
5530	PPP3CA	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0001257	Spasticity	1/6	OMIM:617711
5530	PPP3CA	HP:0002521	Hypsarrhythmia	3/6	OMIM:617711
5530	PPP3CA	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
5530	PPP3CA	HP:0000076	Vesicoureteral reflux	1/2	OMIM:618265
5530	PPP3CA	HP:0001363	Craniosynostosis	2/2	OMIM:618265
5530	PPP3CA	HP:0001357	Plagiocephaly	1/2	OMIM:618265
5530	PPP3CA	HP:0001344	Absent speech	3/6	OMIM:617711
5530	PPP3CA	HP:0001337	Tremor	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0000006	Autosomal dominant inheritance	-	OMIM:618265
5530	PPP3CA	HP:0000006	Autosomal dominant inheritance	-	OMIM:617711
5530	PPP3CA	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0000175	Cleft palate	2/2	OMIM:618265
5530	PPP3CA	HP:0000126	Hydronephrosis	1/2	OMIM:618265
5530	PPP3CA	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0002069	Bilateral tonic-clonic seizure	1/6	OMIM:617711
5530	PPP3CA	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0002059	Cerebral atrophy	-	OMIM:617711
5530	PPP3CA	HP:0002133	Status epilepticus	1/6	OMIM:617711
5530	PPP3CA	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
5530	PPP3CA	HP:0002188	Delayed CNS myelination	1/6	OMIM:617711
5530	PPP3CA	HP:0002197	Generalized-onset seizure	1/2	OMIM:618265
5530	PPP3CA	HP:0003593	Infantile onset	3/6	OMIM:617711
5530	PPP3CA	HP:0003577	Congenital onset	1/2	OMIM:618265
5530	PPP3CA	HP:0003577	Congenital onset	1/6	OMIM:617711
5530	PPP3CA	HP:0100704	Cerebral visual impairment	2/6	OMIM:617711
5530	PPP3CA	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0200134	Epileptic encephalopathy	4/6	OMIM:617711
5530	PPP3CA	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0011968	Feeding difficulties	-	OMIM:617711
5530	PPP3CA	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
5530	PPP3CA	HP:0002376	Developmental regression	3/6	OMIM:617711
5530	PPP3CA	HP:0002317	Unsteady gait	-	OMIM:617711
5530	PPP3CA	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0010841	Multifocal epileptiform discharges	4/6	OMIM:617711
5530	PPP3CA	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
5530	PPP3CA	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
5530	PPP3CA	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0004325	Decreased body weight	2/2	OMIM:618265
5530	PPP3CA	HP:0004322	Short stature	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0004322	Short stature	2/2	OMIM:618265
5530	PPP3CA	HP:0004322	Short stature	1/6	OMIM:617711
5530	PPP3CA	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0034197	Third trimester onset	1/2	OMIM:618265
5530	PPP3CA	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
5530	PPP3CA	HP:0000717	Autism	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0011463	Childhood onset	2/6	OMIM:617711
5530	PPP3CA	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
5530	PPP3CA	HP:0003100	Slender long bone	1/1	OMIM:618265
5530	PPP3CA	HP:0034295	Reduced cerebral white matter volume	1/6	OMIM:617711
5530	PPP3CA	HP:0000883	Thin ribs	1/2	OMIM:618265
5530	PPP3CA	HP:0000954	Single transverse palmar crease	1/6	OMIM:617711
5530	PPP3CA	HP:0000280	Coarse facial features	1/6	OMIM:617711
5530	PPP3CA	HP:0000278	Retrognathia	2/2	OMIM:618265
5530	PPP3CA	HP:0002804	Arthrogryposis multiplex congenita	2/2	OMIM:618265
5530	PPP3CA	HP:0000243	Trigonocephaly	1/2	OMIM:618265
5530	PPP3CA	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
5530	PPP3CA	HP:0011097	Epileptic spasm	3/6	OMIM:617711
5530	PPP3CA	HP:0001609	Hoarse voice	1/6	OMIM:617711
5530	PPP3CA	HP:0032792	Tonic seizure	4/6	OMIM:617711
5530	PPP3CA	HP:0000348	High forehead	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0000347	Micrognathia	2/2	OMIM:618265
5530	PPP3CA	HP:0000347	Micrognathia	1/6	OMIM:617711
5530	PPP3CA	HP:0032794	Myoclonic seizure	1/6	OMIM:617711
5530	PPP3CA	HP:0000316	Hypertelorism	3/6	OMIM:617711
5530	PPP3CA	HP:0000322	Short philtrum	1/6	OMIM:617711
5530	PPP3CA	HP:0011153	Focal motor seizure	1/6	OMIM:617711
5530	PPP3CA	HP:0005274	Prominent nasal tip	1/6	OMIM:617711
5530	PPP3CA	HP:0012471	Thick vermilion border	1/6	OMIM:617711
5530	PPP3CA	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0001790	Nonimmune hydrops fetalis	1/2	OMIM:618265
5530	PPP3CA	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0001762	Talipes equinovarus	1/6	OMIM:617711
5530	PPP3CA	HP:0005474	Decreased calvarial ossification	1/1	OMIM:618265
5530	PPP3CA	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
5530	PPP3CA	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
5530	PPP3CA	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
5530	PPP3CA	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
5538	PPT1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5538	PPT1	HP:0001290	Generalized hypotonia	-	OMIM:256730
5538	PPT1	HP:0001250	Seizure	9/16	OMIM:256730
5538	PPT1	HP:0001252	Hypotonia	-	OMIM:256730
5538	PPT1	HP:0001251	Ataxia	-	OMIM:256730
5538	PPT1	HP:0001249	Intellectual disability	-	OMIM:256730
5538	PPT1	HP:0001263	Global developmental delay	-	OMIM:256730
5538	PPT1	HP:0001257	Spasticity	-	OMIM:256730
5538	PPT1	HP:0001371	Flexion contracture	-	OMIM:256730
5538	PPT1	HP:6000783	Reduced tissue palmitoyl-protein thioesterase activity	5/5	OMIM:256730
5538	PPT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5538	PPT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:256730
5538	PPT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5538	PPT1	HP:0001336	Myoclonus	-	OMIM:256730
5538	PPT1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5538	PPT1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5538	PPT1	HP:0002074	Increased neuronal autofluorescent lipopigment	-	OMIM:256730
5538	PPT1	HP:0002059	Cerebral atrophy	-	OMIM:256730
5538	PPT1	HP:0002360	Sleep abnormality	-	OMIM:256730
5538	PPT1	HP:0002361	Psychomotor deterioration	15/16	OMIM:256730
5538	PPT1	HP:0002371	Loss of speech	-	OMIM:256730
5538	PPT1	HP:0002353	EEG abnormality	-	OMIM:256730
5538	PPT1	HP:0003657	Vascular granular osmiophilic material deposition	16/16	OMIM:256730
5538	PPT1	HP:0003621	Juvenile onset	8/19	OMIM:180100
5538	PPT1	HP:0003621	Juvenile onset	16/16	OMIM:256730
5538	PPT1	HP:0000648	Optic atrophy	-	OMIM:256730
5538	PPT1	HP:0000618	Blindness	-	OMIM:256730
5538	PPT1	HP:0001922	Vacuolated lymphocytes	0/12	OMIM:256730
5538	PPT1	HP:0000608	Macular degeneration	-	OMIM:256730
5538	PPT1	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:256730
5538	PPT1	HP:0000662	Nyctalopia	26/28	OMIM:180100
5538	PPT1	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	-	OMIM:256730
5538	PPT1	HP:0000738	Hallucinations	-	OMIM:256730
5538	PPT1	HP:0000737	Irritability	-	OMIM:256730
5538	PPT1	HP:0000716	Depression	-	OMIM:256730
5538	PPT1	HP:0011463	Childhood onset	3/19	OMIM:180100
5538	PPT1	HP:0011462	Young adult onset	8/19	OMIM:180100
5538	PPT1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5538	PPT1	HP:0000253	Progressive microcephaly	-	OMIM:256730
5538	PPT1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5538	PPT1	HP:0005484	Secondary microcephaly	-	OMIM:256730
5538	PPT1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5538	PPT1	HP:0000529	Progressive visual loss	-	OMIM:256730
5538	PPT1	HP:0000575	Scotoma	5/18	OMIM:180100
5538	PPT1	HP:0000550	Undetectable electroretinogram	-	OMIM:256730
5538	PPT1	HP:0000546	Retinal degeneration	-	OMIM:256730
5538	PPT1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5538	PPT1	HP:0000545	Myopia	-	OMIM:180100
5546	PRCC	HP:0003829	Typified by incomplete penetrance	-	OMIM:605074
5546	PRCC	HP:0000006	Autosomal dominant inheritance	-	OMIM:605074
5546	PRCC	HP:0001442	Typified by somatic mosaicism	-	OMIM:605074
5546	PRCC	HP:0006766	Papillary renal cell carcinoma	-	OMIM:605074
5551	PRF1	HP:0002445	Tetraplegia	-	OMIM:603553
5551	PRF1	HP:0007305	CNS demyelination	1/1	OMIM:603553
5551	PRF1	HP:0001290	Generalized hypotonia	-	OMIM:603553
5551	PRF1	HP:0001276	Hypertonia	-	OMIM:603553
5551	PRF1	HP:0001287	Meningitis	-	OMIM:603553
5551	PRF1	HP:0001250	Seizure	-	OMIM:603553
5551	PRF1	HP:0001250	Seizure	HP:0040283	ORPHA:540
5551	PRF1	HP:0002583	Colitis	HP:0040283	ORPHA:540
5551	PRF1	HP:0001252	Hypotonia	-	OMIM:603553
5551	PRF1	HP:0001251	Ataxia	1/1	OMIM:603553
5551	PRF1	HP:0001263	Global developmental delay	-	OMIM:603553
5551	PRF1	HP:0001259	Coma	HP:0040283	ORPHA:540
5551	PRF1	HP:0001259	Coma	-	OMIM:603553
5551	PRF1	HP:0007430	Generalized edema	-	OMIM:603553
5551	PRF1	HP:0002516	Increased intracranial pressure	1/1	OMIM:603553
5551	PRF1	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:540
5551	PRF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:603553
5551	PRF1	HP:0002665	Lymphoma	-	OMIM:605027
5551	PRF1	HP:0002611	Cholestatic liver disease	HP:0040282	ORPHA:540
5551	PRF1	HP:0012177	Abnormal natural killer cell physiology	HP:0040282	ORPHA:540
5551	PRF1	HP:0012177	Abnormal natural killer cell physiology	26/26	OMIM:603553
5551	PRF1	HP:0012156	Hemophagocytosis	HP:0040281	ORPHA:540
5551	PRF1	HP:0012156	Hemophagocytosis	85/97	OMIM:603553
5551	PRF1	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	HP:0040281	ORPHA:540
5551	PRF1	HP:0001433	Hepatosplenomegaly	2/2	OMIM:603553
5551	PRF1	HP:0001410	Decreased liver function	HP:0040282	ORPHA:540
5551	PRF1	HP:0002719	Recurrent infections	HP:0040283	ORPHA:88
5551	PRF1	HP:0002716	Lymphadenopathy	36/98	OMIM:603553
5551	PRF1	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:540
5551	PRF1	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:540
5551	PRF1	HP:0008151	Prolonged prothrombin time	-	OMIM:603553
5551	PRF1	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:540
5551	PRF1	HP:0002155	Hypertriglyceridemia	81/103	OMIM:603553
5551	PRF1	HP:0011900	Hypofibrinogenemia	HP:0040282	ORPHA:540
5551	PRF1	HP:0011900	Hypofibrinogenemia	86/102	OMIM:603553
5551	PRF1	HP:0003593	Infantile onset	23/23	OMIM:603553
5551	PRF1	HP:0003573	Increased total bilirubin	1/1	OMIM:603553
5551	PRF1	HP:0002240	Hepatomegaly	14/14	OMIM:603553
5551	PRF1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:540
5551	PRF1	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:540
5551	PRF1	HP:0002383	Infectious encephalitis	-	OMIM:603553
5551	PRF1	HP:0001019	Erythroderma	HP:0040282	ORPHA:540
5551	PRF1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:540
5551	PRF1	HP:0002301	Hemiplegia	-	OMIM:603553
5551	PRF1	HP:0005528	Bone marrow hypocellularity	-	OMIM:609135
5551	PRF1	HP:0005528	Bone marrow hypocellularity	HP:0040281	ORPHA:88
5551	PRF1	HP:0001945	Fever	102/105	OMIM:603553
5551	PRF1	HP:0001945	Fever	HP:0040281	ORPHA:540
5551	PRF1	HP:0001954	Recurrent fever	2/2	OMIM:603553
5551	PRF1	HP:0001903	Anemia	79/85	OMIM:603553
5551	PRF1	HP:0001903	Anemia	HP:0040281	ORPHA:540
5551	PRF1	HP:0001903	Anemia	HP:0040280	ORPHA:88
5551	PRF1	HP:0001915	Aplastic anemia	HP:0040280	OMIM:609135
5551	PRF1	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:540
5551	PRF1	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040283	ORPHA:540
5551	PRF1	HP:0003075	Hypoproteinemia	-	OMIM:603553
5551	PRF1	HP:0003073	Hypoalbuminemia	HP:0040281	ORPHA:540
5551	PRF1	HP:0003073	Hypoalbuminemia	-	OMIM:603553
5551	PRF1	HP:0000737	Irritability	-	OMIM:603553
5551	PRF1	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:540
5551	PRF1	HP:0030783	Increased circulating interleukin 6 concentration	HP:0040282	ORPHA:540
5551	PRF1	HP:0003281	Increased circulating ferritin concentration	HP:0040281	ORPHA:540
5551	PRF1	HP:0003281	Increased circulating ferritin concentration	65/71	OMIM:603553
5551	PRF1	HP:0003256	Abnormality of the coagulation cascade	HP:0040282	ORPHA:540
5551	PRF1	HP:0000979	Purpura	HP:0040282	ORPHA:540
5551	PRF1	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:540
5551	PRF1	HP:0000988	Skin rash	HP:0040282	ORPHA:540
5551	PRF1	HP:0000988	Skin rash	22/84	OMIM:603553
5551	PRF1	HP:0000952	Jaundice	19/21	OMIM:603553
5551	PRF1	HP:0000952	Jaundice	HP:0040283	ORPHA:540
5551	PRF1	HP:0000969	Edema	3/9	OMIM:603553
5551	PRF1	HP:0000967	Petechiae	HP:0040282	ORPHA:540
5551	PRF1	HP:0040186	Maculopapular exanthema	HP:0040283	ORPHA:540
5551	PRF1	HP:0030057	Autoimmune antibody positivity	-	ORPHA:88
5551	PRF1	HP:0012229	CSF pleocytosis	HP:0040282	ORPHA:540
5551	PRF1	HP:0012229	CSF pleocytosis	25/49	OMIM:603553
5551	PRF1	HP:0012211	Abnormal renal physiology	HP:0040282	ORPHA:540
5551	PRF1	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:88
5551	PRF1	HP:0031364	Ecchymosis	HP:0040283	ORPHA:88
5551	PRF1	HP:0031364	Ecchymosis	HP:0040282	ORPHA:540
5551	PRF1	HP:0001508	Failure to thrive	-	OMIM:603553
5551	PRF1	HP:0002910	Elevated circulating hepatic transaminase concentration	3/3	OMIM:603553
5551	PRF1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:540
5551	PRF1	HP:0002922	Increased CSF protein concentration	1/1	OMIM:603553
5551	PRF1	HP:0002902	Hyponatremia	-	OMIM:603553
5551	PRF1	HP:0002958	Immune dysregulation	HP:0040281	ORPHA:540
5551	PRF1	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:540
5551	PRF1	HP:0011118	Abnormality of tumor necrosis factor secretion	HP:0040281	ORPHA:540
5551	PRF1	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:540
5551	PRF1	HP:0011112	Abnormal circulating cytokine concentration	HP:0040281	ORPHA:540
5551	PRF1	HP:0001744	Splenomegaly	109/111	OMIM:603553
5551	PRF1	HP:0001744	Splenomegaly	HP:0040282	ORPHA:540
5551	PRF1	HP:0000421	Epistaxis	HP:0040283	ORPHA:88
5551	PRF1	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040281	ORPHA:540
5551	PRF1	HP:0000573	Retinal hemorrhage	HP:0040283	ORPHA:88
5551	PRF1	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:88
5551	PRF1	HP:0001882	Decreased total leukocyte count	-	OMIM:603553
5551	PRF1	HP:0001873	Thrombocytopenia	88/88	OMIM:603553
5551	PRF1	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:540
5551	PRF1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:88
5551	PRF1	HP:0001876	Pancytopenia	HP:0040282	ORPHA:88
5551	PRF1	HP:0001876	Pancytopenia	2/2	OMIM:603553
5551	PRF1	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:88
5551	PRF1	HP:0001875	Decreased total neutrophil count	HP:0040282	ORPHA:540
5557	PRIM1	HP:0001182	Tapered finger	5/5	OMIM:620005
5557	PRIM1	HP:0008551	Microtia	5/5	OMIM:620005
5557	PRIM1	HP:0033677	Acute respiratory distress syndrome	2/5	OMIM:620005
5557	PRIM1	HP:0000089	Renal hypoplasia	1/5	OMIM:620005
5557	PRIM1	HP:0001395	Hepatic fibrosis	1/5	OMIM:620005
5557	PRIM1	HP:0001385	Hip dysplasia	1/5	OMIM:620005
5557	PRIM1	HP:0001363	Craniosynostosis	1/5	OMIM:620005
5557	PRIM1	HP:0000028	Cryptorchidism	2/3	OMIM:620005
5557	PRIM1	HP:0008850	Severe postnatal growth retardation	5/5	OMIM:620005
5557	PRIM1	HP:0007485	Absence of subcutaneous fat	5/5	OMIM:620005
5557	PRIM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620005
5557	PRIM1	HP:0001409	Portal hypertension	1/5	OMIM:620005
5557	PRIM1	HP:0002719	Recurrent infections	5/5	OMIM:620005
5557	PRIM1	HP:0002720	Decreased circulating IgA concentration	3/5	OMIM:620005
5557	PRIM1	HP:0002007	Frontal bossing	2/5	OMIM:620005
5557	PRIM1	HP:0002092	Pulmonary arterial hypertension	1/5	OMIM:620005
5557	PRIM1	HP:0002093	Respiratory insufficiency	1/5	OMIM:620005
5557	PRIM1	HP:0002113	Pulmonary infiltrates	2/5	OMIM:620005
5557	PRIM1	HP:0002194	Delayed gross motor development	1/5	OMIM:620005
5557	PRIM1	HP:0011968	Feeding difficulties	5/5	OMIM:620005
5557	PRIM1	HP:0200055	Small hand	5/5	OMIM:620005
5557	PRIM1	HP:0001903	Anemia	2/5	OMIM:620005
5557	PRIM1	HP:0011344	Severe global developmental delay	4/5	OMIM:620005
5557	PRIM1	HP:0000691	Microdontia	1/5	OMIM:620005
5557	PRIM1	HP:0004315	Decreased circulating IgG concentration	5/5	OMIM:620005
5557	PRIM1	HP:0012735	Cough	1/5	OMIM:620005
5557	PRIM1	HP:0011461	Fetal onset	5/5	OMIM:620005
5557	PRIM1	HP:0030799	Scaphocephaly	1/5	OMIM:620005
5557	PRIM1	HP:0003155	Elevated circulating alkaline phosphatase concentration	2/5	OMIM:620005
5557	PRIM1	HP:0000878	11 pairs of ribs	1/5	OMIM:620005
5557	PRIM1	HP:0000821	Hypothyroidism	3/4	OMIM:620005
5557	PRIM1	HP:0030828	Wheezing	1/5	OMIM:620005
5557	PRIM1	HP:0008070	Sparse hair	1/5	OMIM:620005
5557	PRIM1	HP:0000270	Delayed cranial suture closure	3/10	OMIM:620005
5557	PRIM1	HP:0000252	Microcephaly	5/5	OMIM:620005
5557	PRIM1	HP:0002850	Decreased circulating total IgM	1/5	OMIM:620005
5557	PRIM1	HP:0001511	Intrauterine growth retardation	5/5	OMIM:620005
5557	PRIM1	HP:0006577	Macronodular cirrhosis	1/5	OMIM:620005
5557	PRIM1	HP:0006528	Chronic lung disease	1/5	OMIM:620005
5557	PRIM1	HP:0002910	Elevated circulating hepatic transaminase concentration	2/5	OMIM:620005
5557	PRIM1	HP:0000369	Low-set ears	5/5	OMIM:620005
5557	PRIM1	HP:0000337	Broad forehead	2/5	OMIM:620005
5557	PRIM1	HP:0000347	Micrognathia	1/5	OMIM:620005
5557	PRIM1	HP:0000319	Smooth philtrum	1/5	OMIM:620005
5557	PRIM1	HP:0001643	Patent ductus arteriosus	1/5	OMIM:620005
5557	PRIM1	HP:0001655	Patent foramen ovale	2/5	OMIM:620005
5557	PRIM1	HP:0001631	Atrial septal defect	1/5	OMIM:620005
5557	PRIM1	HP:0005365	Severe B lymphocytopenia	2/5	OMIM:620005
5557	PRIM1	HP:0001738	Exocrine pancreatic insufficiency	1/4	OMIM:620005
5557	PRIM1	HP:0005280	Depressed nasal bridge	1/5	OMIM:620005
5557	PRIM1	HP:0012471	Thick vermilion border	2/5	OMIM:620005
5557	PRIM1	HP:0000437	Depressed nasal tip	1/5	OMIM:620005
5557	PRIM1	HP:0001747	Accessory spleen	1/5	OMIM:620005
5557	PRIM1	HP:0000518	Cataract	1/5	OMIM:620005
5557	PRIM1	HP:0000581	Blepharophimosis	5/5	OMIM:620005
5557	PRIM1	HP:0001888	Decreased total lymphocyte count	4/5	OMIM:620005
5557	PRIM1	HP:0000568	Microphthalmia	5/5	OMIM:620005
5557	PRIM1	HP:0001873	Thrombocytopenia	4/5	OMIM:620005
5566	PRKACA	HP:0002488	Acute leukemia	HP:0040283	ORPHA:289
5566	PRKACA	HP:0001161	Hand polydactyly	HP:0040281	ORPHA:289
5566	PRKACA	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:289
5566	PRKACA	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5566	PRKACA	HP:0003701	Proximal muscle weakness	-	OMIM:615830
5566	PRKACA	HP:0001293	Cranial nerve compression	-	OMIM:131300
5566	PRKACA	HP:0100818	Long thorax	2/3	OMIM:619142
5566	PRKACA	HP:0001252	Hypotonia	2/7	OMIM:615777
5566	PRKACA	HP:0001249	Intellectual disability	HP:0040283	ORPHA:289
5566	PRKACA	HP:0001249	Intellectual disability	5/7	OMIM:615777
5566	PRKACA	HP:0001263	Global developmental delay	-	OMIM:615777
5566	PRKACA	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:289
5566	PRKACA	HP:0001241	Capitate-hamate fusion	HP:0040282	ORPHA:289
5566	PRKACA	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:289
5566	PRKACA	HP:0002515	Waddling gait	54/102	OMIM:131300
5566	PRKACA	HP:0025383	Dorsocervical fat pad	-	OMIM:615830
5566	PRKACA	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:289
5566	PRKACA	HP:0000072	Hydroureter	HP:0040283	ORPHA:289
5566	PRKACA	HP:0000069	Abnormality of the ureter	HP:0040282	ORPHA:289
5566	PRKACA	HP:0000039	Epispadias	HP:0040282	ORPHA:289
5566	PRKACA	HP:0001382	Joint hypermobility	-	OMIM:615777
5566	PRKACA	HP:0000047	Hypospadias	HP:0040282	ORPHA:289
5566	PRKACA	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5566	PRKACA	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:289
5566	PRKACA	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5566	PRKACA	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5566	PRKACA	HP:0001324	Muscle weakness	40/96	OMIM:131300
5566	PRKACA	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5566	PRKACA	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:289
5566	PRKACA	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5566	PRKACA	HP:0000006	Autosomal dominant inheritance	-	OMIM:615830
5566	PRKACA	HP:0000006	Autosomal dominant inheritance	-	OMIM:619142
5566	PRKACA	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5566	PRKACA	HP:0002650	Scoliosis	12/14	OMIM:131300
5566	PRKACA	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5566	PRKACA	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040282	ORPHA:289
5566	PRKACA	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5566	PRKACA	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5566	PRKACA	HP:0008921	Neonatal short-limb short stature	HP:0040281	ORPHA:289
5566	PRKACA	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5566	PRKACA	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:289
5566	PRKACA	HP:0000191	Accessory oral frenulum	2/2	OMIM:619142
5566	PRKACA	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:289
5566	PRKACA	HP:0000175	Cleft palate	2/7	OMIM:615777
5566	PRKACA	HP:0500011	Moon facies	-	OMIM:615830
5566	PRKACA	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:289
5566	PRKACA	HP:0011800	Midface retrusion	1/2	OMIM:619142
5566	PRKACA	HP:0002097	Emphysema	HP:0040283	ORPHA:289
5566	PRKACA	HP:0003388	Easy fatigability	36/76	OMIM:131300
5566	PRKACA	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5566	PRKACA	HP:0002164	Nail dysplasia	HP:0040281	ORPHA:289
5566	PRKACA	HP:0002164	Nail dysplasia	3/5	OMIM:619142
5566	PRKACA	HP:0008221	Adrenal hyperplasia	-	OMIM:615830
5566	PRKACA	HP:0011833	Overhanging nasal tip	1/2	OMIM:619142
5566	PRKACA	HP:0011830	Abnormal oral mucosa morphology	HP:0040281	ORPHA:289
5566	PRKACA	HP:0003577	Congenital onset	-	OMIM:619142
5566	PRKACA	HP:0003510	Severe short stature	7/7	OMIM:615777
5566	PRKACA	HP:0001061	Acne	-	OMIM:615830
5566	PRKACA	HP:0001030	Fragile skin	-	OMIM:615830
5566	PRKACA	HP:0001007	Hirsutism	-	OMIM:615830
5566	PRKACA	HP:0002315	Headache	-	OMIM:131300
5566	PRKACA	HP:0004976	Knee dislocation	6/7	OMIM:615777
5566	PRKACA	HP:0009826	Limb undergrowth	5/6	OMIM:619142
5566	PRKACA	HP:0009803	Short phalanx of finger	-	OMIM:615777
5566	PRKACA	HP:0009763	Limb pain	63/92	OMIM:131300
5566	PRKACA	HP:0003621	Juvenile onset	-	OMIM:131300
5566	PRKACA	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5566	PRKACA	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5566	PRKACA	HP:0005561	Abnormal bone marrow cell morphology	HP:0040283	ORPHA:289
5566	PRKACA	HP:6001056	Out-toeing	-	OMIM:131300
5566	PRKACA	HP:0000651	Diplopia	-	OMIM:131300
5566	PRKACA	HP:0001956	Truncal obesity	2/7	OMIM:615777
5566	PRKACA	HP:0001903	Anemia	HP:0040283	OMIM:131300
5566	PRKACA	HP:0010049	Short metacarpal	-	OMIM:615777
5566	PRKACA	HP:0011362	Abnormal hair quantity	HP:0040283	ORPHA:289
5566	PRKACA	HP:0000699	Diastema	1/3	OMIM:619142
5566	PRKACA	HP:0000698	Conical tooth	1/3	OMIM:619142
5566	PRKACA	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:289
5566	PRKACA	HP:0000678	Dental crowding	-	OMIM:615777
5566	PRKACA	HP:0000691	Microdontia	HP:0040282	ORPHA:289
5566	PRKACA	HP:0000670	Carious teeth	-	OMIM:131300
5566	PRKACA	HP:0011304	Broad thumb	2/7	OMIM:615777
5566	PRKACA	HP:0000668	Hypodontia	-	OMIM:615777
5566	PRKACA	HP:0000668	Hypodontia	HP:0040282	ORPHA:289
5566	PRKACA	HP:0000664	Synophrys	-	OMIM:615777
5566	PRKACA	HP:0004324	Increased body weight	-	OMIM:615830
5566	PRKACA	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:289
5566	PRKACA	HP:0004396	Poor appetite	-	OMIM:131300
5566	PRKACA	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5566	PRKACA	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5566	PRKACA	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5566	PRKACA	HP:0003026	Short long bone	7/7	OMIM:615777
5566	PRKACA	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5566	PRKACA	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5566	PRKACA	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5566	PRKACA	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5566	PRKACA	HP:0000750	Delayed speech and language development	-	OMIM:615777
5566	PRKACA	HP:0000716	Depression	-	OMIM:615830
5566	PRKACA	HP:0000712	Emotional lability	-	OMIM:615830
5566	PRKACA	HP:0011461	Fetal onset	7/7	OMIM:615777
5566	PRKACA	HP:0000774	Narrow chest	HP:0040281	ORPHA:289
5566	PRKACA	HP:0000774	Narrow chest	2/7	OMIM:615777
5566	PRKACA	HP:0003118	Increased circulating cortisol level	-	OMIM:615830
5566	PRKACA	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:289
5566	PRKACA	HP:0000926	Platyspondyly	1/7	OMIM:615777
5566	PRKACA	HP:0003180	Flat acetabular roof	-	OMIM:615777
5566	PRKACA	HP:0004482	Relative macrocephaly	-	OMIM:615777
5566	PRKACA	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5566	PRKACA	HP:0000819	Diabetes mellitus	-	OMIM:615830
5566	PRKACA	HP:0000822	Hypertension	-	OMIM:615830
5566	PRKACA	HP:0000823	Delayed puberty	-	OMIM:131300
5566	PRKACA	HP:0000894	Short clavicles	-	OMIM:615777
5566	PRKACA	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5566	PRKACA	HP:0100259	Postaxial polydactyly	8/8	OMIM:619142
5566	PRKACA	HP:0010306	Short thorax	HP:0040281	ORPHA:289
5566	PRKACA	HP:0000978	Bruising susceptibility	-	OMIM:615830
5566	PRKACA	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5566	PRKACA	HP:0000939	Osteoporosis	-	OMIM:615830
5566	PRKACA	HP:0000938	Osteopenia	-	OMIM:615830
5566	PRKACA	HP:0000286	Epicanthus	1/7	OMIM:615777
5566	PRKACA	HP:0000280	Coarse facial features	2/7	OMIM:615777
5566	PRKACA	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:289
5566	PRKACA	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:289
5566	PRKACA	HP:0001596	Alopecia	-	OMIM:615830
5566	PRKACA	HP:0000276	Long face	1/2	OMIM:619142
5566	PRKACA	HP:0002827	Hip dislocation	3/7	OMIM:615777
5566	PRKACA	HP:0005048	Synostosis of carpal bones	HP:0040283	ORPHA:289
5566	PRKACA	HP:0000252	Microcephaly	-	OMIM:615777
5566	PRKACA	HP:0001579	Primary hypercortisolism	-	OMIM:615830
5566	PRKACA	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:289
5566	PRKACA	HP:0002857	Genu valgum	-	OMIM:131300
5566	PRKACA	HP:0002857	Genu valgum	HP:0040281	ORPHA:289
5566	PRKACA	HP:0002857	Genu valgum	2/2	OMIM:619142
5566	PRKACA	HP:0001533	Slender build	-	OMIM:131300
5566	PRKACA	HP:0001508	Failure to thrive	HP:0040281	ORPHA:289
5566	PRKACA	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:289
5566	PRKACA	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5566	PRKACA	HP:0007807	Optic nerve compression	-	OMIM:131300
5566	PRKACA	HP:0011065	Conical incisor	HP:0040282	ORPHA:289
5566	PRKACA	HP:0012368	Flat face	7/7	OMIM:615777
5566	PRKACA	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5566	PRKACA	HP:0001696	Situs inversus totalis	HP:0040282	ORPHA:289
5566	PRKACA	HP:0000365	Hearing impairment	10/67	OMIM:131300
5566	PRKACA	HP:0001674	Complete atrioventricular canal defect	-	OMIM:619142
5566	PRKACA	HP:0000343	Long philtrum	1/7	OMIM:615777
5566	PRKACA	HP:0011001	Increased bone mineral density	-	OMIM:131300
5566	PRKACA	HP:0002983	Micromelia	HP:0040281	ORPHA:289
5566	PRKACA	HP:0001651	Dextrocardia	HP:0040282	ORPHA:289
5566	PRKACA	HP:0000311	Round face	2/7	OMIM:615777
5566	PRKACA	HP:0000327	Hypoplasia of the maxilla	1/2	OMIM:619142
5566	PRKACA	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:289
5566	PRKACA	HP:0000322	Short philtrum	1/2	OMIM:619142
5566	PRKACA	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:289
5566	PRKACA	HP:0002970	Genu varum	-	OMIM:615777
5566	PRKACA	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:289
5566	PRKACA	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:289
5566	PRKACA	HP:0000303	Mandibular prognathia	-	OMIM:131300
5566	PRKACA	HP:0006695	Atrioventricular canal defect	HP:0040281	ORPHA:289
5566	PRKACA	HP:0006695	Atrioventricular canal defect	-	OMIM:619142
5566	PRKACA	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5566	PRKACA	HP:0000486	Strabismus	HP:0040282	ORPHA:289
5566	PRKACA	HP:0000470	Short neck	1/7	OMIM:615777
5566	PRKACA	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5566	PRKACA	HP:0001763	Pes planus	1/7	OMIM:615777
5566	PRKACA	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040282	ORPHA:289
5566	PRKACA	HP:0001840	Metatarsus adductus	-	OMIM:615777
5566	PRKACA	HP:0000520	Proptosis	2/4	OMIM:131300
5566	PRKACA	HP:0000520	Proptosis	7/7	OMIM:615777
5566	PRKACA	HP:0001829	Foot polydactyly	HP:0040281	ORPHA:289
5566	PRKACA	HP:0001800	Hypoplastic toenails	HP:0040281	ORPHA:289
5566	PRKACA	HP:0000592	Blue sclerae	2/7	OMIM:615777
5566	PRKACA	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5566	PRKACA	HP:0012514	Lower limb pain	4/4	OMIM:131300
5567	PRKACB	HP:0002488	Acute leukemia	HP:0040283	ORPHA:289
5567	PRKACB	HP:0001156	Brachydactyly	2/4	OMIM:619143
5567	PRKACB	HP:0001162	Postaxial hand polydactyly	4/4	OMIM:619143
5567	PRKACB	HP:0001161	Hand polydactyly	HP:0040281	ORPHA:289
5567	PRKACB	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:289
5567	PRKACB	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5567	PRKACB	HP:0001293	Cranial nerve compression	-	OMIM:131300
5567	PRKACB	HP:0100818	Long thorax	2/4	OMIM:619143
5567	PRKACB	HP:0001252	Hypotonia	2/7	OMIM:615777
5567	PRKACB	HP:0001249	Intellectual disability	HP:0040283	ORPHA:289
5567	PRKACB	HP:0001249	Intellectual disability	5/7	OMIM:615777
5567	PRKACB	HP:0001263	Global developmental delay	-	OMIM:615777
5567	PRKACB	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:289
5567	PRKACB	HP:0001241	Capitate-hamate fusion	HP:0040282	ORPHA:289
5567	PRKACB	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:289
5567	PRKACB	HP:0001217	Clubbing	1/4	OMIM:619143
5567	PRKACB	HP:0002515	Waddling gait	54/102	OMIM:131300
5567	PRKACB	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:289
5567	PRKACB	HP:0000072	Hydroureter	HP:0040283	ORPHA:289
5567	PRKACB	HP:0000069	Abnormality of the ureter	HP:0040282	ORPHA:289
5567	PRKACB	HP:0000039	Epispadias	HP:0040282	ORPHA:289
5567	PRKACB	HP:0001382	Joint hypermobility	-	OMIM:615777
5567	PRKACB	HP:0000047	Hypospadias	HP:0040282	ORPHA:289
5567	PRKACB	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5567	PRKACB	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:289
5567	PRKACB	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5567	PRKACB	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5567	PRKACB	HP:0001324	Muscle weakness	40/96	OMIM:131300
5567	PRKACB	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5567	PRKACB	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:289
5567	PRKACB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5567	PRKACB	HP:0000006	Autosomal dominant inheritance	-	OMIM:619143
5567	PRKACB	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5567	PRKACB	HP:0002650	Scoliosis	12/14	OMIM:131300
5567	PRKACB	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5567	PRKACB	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040282	ORPHA:289
5567	PRKACB	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5567	PRKACB	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5567	PRKACB	HP:0008921	Neonatal short-limb short stature	HP:0040281	ORPHA:289
5567	PRKACB	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5567	PRKACB	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:289
5567	PRKACB	HP:0000191	Accessory oral frenulum	1/4	OMIM:619143
5567	PRKACB	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:289
5567	PRKACB	HP:0000175	Cleft palate	2/7	OMIM:615777
5567	PRKACB	HP:0005001	Recurrent patellar dislocation	1/4	OMIM:619143
5567	PRKACB	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:289
5567	PRKACB	HP:0002002	Deep philtrum	1/4	OMIM:619143
5567	PRKACB	HP:0002097	Emphysema	HP:0040283	ORPHA:289
5567	PRKACB	HP:0003388	Easy fatigability	36/76	OMIM:131300
5567	PRKACB	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5567	PRKACB	HP:0002164	Nail dysplasia	HP:0040281	ORPHA:289
5567	PRKACB	HP:0002164	Nail dysplasia	1/4	OMIM:619143
5567	PRKACB	HP:0011830	Abnormal oral mucosa morphology	HP:0040281	ORPHA:289
5567	PRKACB	HP:0003577	Congenital onset	4/4	OMIM:619143
5567	PRKACB	HP:0003510	Severe short stature	7/7	OMIM:615777
5567	PRKACB	HP:0002315	Headache	-	OMIM:131300
5567	PRKACB	HP:0004976	Knee dislocation	6/7	OMIM:615777
5567	PRKACB	HP:0009826	Limb undergrowth	1/4	OMIM:619143
5567	PRKACB	HP:0010804	Tented upper lip vermilion	1/4	OMIM:619143
5567	PRKACB	HP:0009803	Short phalanx of finger	-	OMIM:615777
5567	PRKACB	HP:0009763	Limb pain	63/92	OMIM:131300
5567	PRKACB	HP:0003621	Juvenile onset	-	OMIM:131300
5567	PRKACB	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5567	PRKACB	HP:0004209	Clinodactyly of the 5th finger	2/4	OMIM:619143
5567	PRKACB	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5567	PRKACB	HP:0005561	Abnormal bone marrow cell morphology	HP:0040283	ORPHA:289
5567	PRKACB	HP:6001056	Out-toeing	-	OMIM:131300
5567	PRKACB	HP:0000651	Diplopia	-	OMIM:131300
5567	PRKACB	HP:0001956	Truncal obesity	2/7	OMIM:615777
5567	PRKACB	HP:0001903	Anemia	HP:0040283	OMIM:131300
5567	PRKACB	HP:0010049	Short metacarpal	-	OMIM:615777
5567	PRKACB	HP:0011362	Abnormal hair quantity	HP:0040283	ORPHA:289
5567	PRKACB	HP:0000698	Conical tooth	1/4	OMIM:619143
5567	PRKACB	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:289
5567	PRKACB	HP:0000678	Dental crowding	-	OMIM:615777
5567	PRKACB	HP:0000691	Microdontia	HP:0040282	ORPHA:289
5567	PRKACB	HP:0000670	Carious teeth	-	OMIM:131300
5567	PRKACB	HP:0011304	Broad thumb	2/7	OMIM:615777
5567	PRKACB	HP:0000668	Hypodontia	-	OMIM:615777
5567	PRKACB	HP:0000668	Hypodontia	HP:0040282	ORPHA:289
5567	PRKACB	HP:0000668	Hypodontia	2/4	OMIM:619143
5567	PRKACB	HP:0000664	Synophrys	-	OMIM:615777
5567	PRKACB	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:289
5567	PRKACB	HP:0004396	Poor appetite	-	OMIM:131300
5567	PRKACB	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5567	PRKACB	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5567	PRKACB	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5567	PRKACB	HP:0003026	Short long bone	7/7	OMIM:615777
5567	PRKACB	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5567	PRKACB	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5567	PRKACB	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5567	PRKACB	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5567	PRKACB	HP:0000750	Delayed speech and language development	-	OMIM:615777
5567	PRKACB	HP:0011461	Fetal onset	7/7	OMIM:615777
5567	PRKACB	HP:0000774	Narrow chest	HP:0040281	ORPHA:289
5567	PRKACB	HP:0000774	Narrow chest	2/7	OMIM:615777
5567	PRKACB	HP:0000774	Narrow chest	2/4	OMIM:619143
5567	PRKACB	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:289
5567	PRKACB	HP:0000926	Platyspondyly	1/7	OMIM:615777
5567	PRKACB	HP:0003180	Flat acetabular roof	-	OMIM:615777
5567	PRKACB	HP:0004482	Relative macrocephaly	-	OMIM:615777
5567	PRKACB	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5567	PRKACB	HP:0000823	Delayed puberty	-	OMIM:131300
5567	PRKACB	HP:0011565	Common atrium	3/4	OMIM:619143
5567	PRKACB	HP:0000894	Short clavicles	-	OMIM:615777
5567	PRKACB	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5567	PRKACB	HP:0010306	Short thorax	HP:0040281	ORPHA:289
5567	PRKACB	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5567	PRKACB	HP:0011670	Left superior vena cava draining to coronary sinus	1/4	OMIM:619143
5567	PRKACB	HP:0000286	Epicanthus	1/7	OMIM:615777
5567	PRKACB	HP:0000280	Coarse facial features	2/7	OMIM:615777
5567	PRKACB	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:289
5567	PRKACB	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:289
5567	PRKACB	HP:0000276	Long face	2/4	OMIM:619143
5567	PRKACB	HP:0002827	Hip dislocation	3/7	OMIM:615777
5567	PRKACB	HP:0005048	Synostosis of carpal bones	HP:0040283	ORPHA:289
5567	PRKACB	HP:0000252	Microcephaly	-	OMIM:615777
5567	PRKACB	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:289
5567	PRKACB	HP:0002857	Genu valgum	-	OMIM:131300
5567	PRKACB	HP:0002857	Genu valgum	HP:0040281	ORPHA:289
5567	PRKACB	HP:0002857	Genu valgum	2/4	OMIM:619143
5567	PRKACB	HP:0001533	Slender build	-	OMIM:131300
5567	PRKACB	HP:0001508	Failure to thrive	HP:0040281	ORPHA:289
5567	PRKACB	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:289
5567	PRKACB	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5567	PRKACB	HP:0007807	Optic nerve compression	-	OMIM:131300
5567	PRKACB	HP:0011065	Conical incisor	HP:0040282	ORPHA:289
5567	PRKACB	HP:0012368	Flat face	7/7	OMIM:615777
5567	PRKACB	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5567	PRKACB	HP:0001696	Situs inversus totalis	HP:0040282	ORPHA:289
5567	PRKACB	HP:0000365	Hearing impairment	10/67	OMIM:131300
5567	PRKACB	HP:0000343	Long philtrum	1/7	OMIM:615777
5567	PRKACB	HP:0011001	Increased bone mineral density	-	OMIM:131300
5567	PRKACB	HP:0000337	Broad forehead	1/4	OMIM:619143
5567	PRKACB	HP:0002983	Micromelia	HP:0040281	ORPHA:289
5567	PRKACB	HP:0001651	Dextrocardia	HP:0040282	ORPHA:289
5567	PRKACB	HP:0000316	Hypertelorism	1/4	OMIM:619143
5567	PRKACB	HP:0000311	Round face	2/7	OMIM:615777
5567	PRKACB	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:289
5567	PRKACB	HP:0000322	Short philtrum	1/4	OMIM:619143
5567	PRKACB	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:289
5567	PRKACB	HP:0002970	Genu varum	-	OMIM:615777
5567	PRKACB	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:289
5567	PRKACB	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:289
5567	PRKACB	HP:0000303	Mandibular prognathia	-	OMIM:131300
5567	PRKACB	HP:0000303	Mandibular prognathia	1/4	OMIM:619143
5567	PRKACB	HP:0006695	Atrioventricular canal defect	HP:0040281	ORPHA:289
5567	PRKACB	HP:0006695	Atrioventricular canal defect	1/4	OMIM:619143
5567	PRKACB	HP:0005274	Prominent nasal tip	1/4	OMIM:619143
5567	PRKACB	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5567	PRKACB	HP:0000486	Strabismus	HP:0040282	ORPHA:289
5567	PRKACB	HP:0000470	Short neck	1/7	OMIM:615777
5567	PRKACB	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5567	PRKACB	HP:0001763	Pes planus	1/7	OMIM:615777
5567	PRKACB	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040282	ORPHA:289
5567	PRKACB	HP:0001840	Metatarsus adductus	-	OMIM:615777
5567	PRKACB	HP:0000520	Proptosis	2/4	OMIM:131300
5567	PRKACB	HP:0000520	Proptosis	7/7	OMIM:615777
5567	PRKACB	HP:0001829	Foot polydactyly	HP:0040281	ORPHA:289
5567	PRKACB	HP:0001830	Postaxial foot polydactyly	3/4	OMIM:619143
5567	PRKACB	HP:0001800	Hypoplastic toenails	HP:0040281	ORPHA:289
5567	PRKACB	HP:0000592	Blue sclerae	2/7	OMIM:615777
5567	PRKACB	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5567	PRKACB	HP:0012514	Lower limb pain	4/4	OMIM:131300
5568	PRKACG	HP:0007420	Spontaneous hematomas	1/2	OMIM:616176
5568	PRKACG	HP:0000007	Autosomal recessive inheritance	-	OMIM:616176
5568	PRKACG	HP:0000132	Menorrhagia	1/1	OMIM:616176
5568	PRKACG	HP:0003593	Infantile onset	2/2	OMIM:616176
5568	PRKACG	HP:0001903	Anemia	1/2	OMIM:616176
5568	PRKACG	HP:0040185	Macrothrombocytopenia	2/2	OMIM:616176
5568	PRKACG	HP:0000421	Epistaxis	2/2	OMIM:616176
5568	PRKACG	HP:0001892	Abnormal bleeding	2/2	OMIM:616176
5568	PRKACG	HP:0001873	Thrombocytopenia	2/2	OMIM:616176
5573	PRKAR1A	HP:0001169	Broad palm	-	OMIM:101800
5573	PRKAR1A	HP:0025134	Increased serum estradiol	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0001156	Brachydactyly	8/8	OMIM:101800
5573	PRKAR1A	HP:0001156	Brachydactyly	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0033579	Decreased growth hormone responses to growth hormone-releasing hormone challenge	2/2	OMIM:101800
5573	PRKAR1A	HP:0003764	Nevus	-	OMIM:160980
5573	PRKAR1A	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5573	PRKAR1A	HP:0001297	Stroke	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0025269	Panic attack	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0001293	Cranial nerve compression	-	OMIM:131300
5573	PRKAR1A	HP:0100814	Blue nevus	HP:0040282	ORPHA:1359
5573	PRKAR1A	HP:0001268	Mental deterioration	-	OMIM:610489
5573	PRKAR1A	HP:0001252	Hypotonia	2/7	OMIM:615777
5573	PRKAR1A	HP:0001249	Intellectual disability	-	OMIM:101800
5573	PRKAR1A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0001249	Intellectual disability	5/7	OMIM:615777
5573	PRKAR1A	HP:0001263	Global developmental delay	-	OMIM:615777
5573	PRKAR1A	HP:0025274	Ovarian dermoid cyst	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0031035	Chronic infection	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0006059	Cone-shaped metacarpal epiphyses	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0010978	Abnormality of immune system physiology	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0034941	Palatine myxoma	1/1	OMIM:160980
5573	PRKAR1A	HP:0002515	Waddling gait	54/102	OMIM:131300
5573	PRKAR1A	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0025383	Dorsocervical fat pad	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0000080	Abnormality of reproductive system physiology	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0025380	Increased circulating androstenedione concentration	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0000098	Tall stature	HP:0040284	ORPHA:1359
5573	PRKAR1A	HP:0001396	Cholestasis	HP:0040283	ORPHA:615
5573	PRKAR1A	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0001373	Joint dislocation	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0012030	Increased urinary cortisol level	5/5	OMIM:610489
5573	PRKAR1A	HP:0012030	Increased urinary cortisol level	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0000055	Abnormal female external genitalia morphology	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0001382	Joint hypermobility	-	OMIM:615777
5573	PRKAR1A	HP:0000053	Macroorchidism	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0025318	Ovarian carcinoma	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5573	PRKAR1A	HP:0000028	Cryptorchidism	3/4	OMIM:101800
5573	PRKAR1A	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0007565	Multiple cafe-au-lait spots	HP:0040282	ORPHA:1359
5573	PRKAR1A	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5573	PRKAR1A	HP:0008873	Disproportionate short-limb short stature	-	OMIM:101800
5573	PRKAR1A	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5573	PRKAR1A	HP:0001324	Muscle weakness	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0001324	Muscle weakness	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0001324	Muscle weakness	40/96	OMIM:131300
5573	PRKAR1A	HP:0001324	Muscle weakness	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0002673	Coxa valga	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5573	PRKAR1A	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5573	PRKAR1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:255960
5573	PRKAR1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:101800
5573	PRKAR1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5573	PRKAR1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:160980
5573	PRKAR1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:610489
5573	PRKAR1A	HP:0002666	Pheochromocytoma	-	OMIM:160980
5573	PRKAR1A	HP:0002653	Bone pain	HP:0040283	ORPHA:520
5573	PRKAR1A	HP:0002650	Scoliosis	-	OMIM:101800
5573	PRKAR1A	HP:0002650	Scoliosis	HP:0040283	ORPHA:950
5573	PRKAR1A	HP:0002650	Scoliosis	12/14	OMIM:131300
5573	PRKAR1A	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5573	PRKAR1A	HP:0002617	Vascular dilatation	HP:0040284	ORPHA:615
5573	PRKAR1A	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5573	PRKAR1A	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5573	PRKAR1A	HP:0033794	Acral overgrowth	6/10	OMIM:160980
5573	PRKAR1A	HP:0000199	Tongue nodules	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0000194	Open mouth	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5573	PRKAR1A	HP:0025451	Testicular adrenal rest tumor	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0000175	Cleft palate	2/7	OMIM:615777
5573	PRKAR1A	HP:0025436	Elevated serum 11-deoxycortisol	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0000135	Hypogonadism	HP:0040283	ORPHA:950
5573	PRKAR1A	HP:0000135	Hypogonadism	-	OMIM:101800
5573	PRKAR1A	HP:0000138	Ovarian cyst	HP:0040282	ORPHA:1359
5573	PRKAR1A	HP:0001480	Freckling	-	OMIM:160980
5573	PRKAR1A	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0500011	Moon facies	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0000122	Unilateral renal agenesis	1/3	OMIM:101800
5573	PRKAR1A	HP:0025420	Diffuse alveolar hemorrhage	HP:0040283	ORPHA:520
5573	PRKAR1A	HP:0031214	Decreased circulating dehydroepiandrosterone concentration	3/4	OMIM:610489
5573	PRKAR1A	HP:0001402	Hepatocellular carcinoma	HP:0040284	ORPHA:1359
5573	PRKAR1A	HP:0031245	Productive cough	HP:0040283	ORPHA:520
5573	PRKAR1A	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:520
5573	PRKAR1A	HP:0002027	Abdominal pain	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0002027	Abdominal pain	HP:0040283	ORPHA:520
5573	PRKAR1A	HP:0002007	Frontal bossing	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0011800	Midface retrusion	2/2	OMIM:101800
5573	PRKAR1A	HP:0011800	Midface retrusion	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:520
5573	PRKAR1A	HP:0002039	Anorexia	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0003388	Easy fatigability	HP:0040282	ORPHA:615
5573	PRKAR1A	HP:0003388	Easy fatigability	36/76	OMIM:131300
5573	PRKAR1A	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5573	PRKAR1A	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040282	ORPHA:1359
5573	PRKAR1A	HP:0011748	Adrenocorticotropic hormone deficiency	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0005916	Abnormal metacarpal morphology	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	-	OMIM:610489
5573	PRKAR1A	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0003416	Spinal canal stenosis	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0003416	Spinal canal stenosis	-	OMIM:101800
5573	PRKAR1A	HP:0011900	Hypofibrinogenemia	HP:0040283	ORPHA:520
5573	PRKAR1A	HP:0008225	Thyroid follicular hyperplasia	-	OMIM:160980
5573	PRKAR1A	HP:0010579	Cone-shaped epiphysis	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0003528	Elevated circulating calcitonin concentration	2/2	OMIM:101800
5573	PRKAR1A	HP:0100737	Abnormal hard palate morphology	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0100751	Esophageal neoplasm	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0100743	Neoplasm of the rectum	HP:0040284	ORPHA:1359
5573	PRKAR1A	HP:0100749	Chest pain	HP:0040283	ORPHA:615
5573	PRKAR1A	HP:0002297	Red hair	-	OMIM:160980
5573	PRKAR1A	HP:0100758	Gangrene	HP:0040284	ORPHA:520
5573	PRKAR1A	HP:0010655	Epiphyseal stippling	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0010655	Epiphyseal stippling	3/3	OMIM:101800
5573	PRKAR1A	HP:0010619	Fibroadenoma of the breast	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0003510	Severe short stature	7/7	OMIM:615777
5573	PRKAR1A	HP:0001065	Striae distensae	-	OMIM:610489
5573	PRKAR1A	HP:0001065	Striae distensae	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0001065	Striae distensae	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0001007	Hirsutism	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0001007	Hirsutism	-	OMIM:160980
5573	PRKAR1A	HP:0002321	Vertigo	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0002315	Headache	-	OMIM:131300
5573	PRKAR1A	HP:0004976	Knee dislocation	6/7	OMIM:615777
5573	PRKAR1A	HP:0001003	Multiple lentigines	7/10	OMIM:160980
5573	PRKAR1A	HP:0001003	Multiple lentigines	HP:0040282	ORPHA:1359
5573	PRKAR1A	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0010807	Open bite	HP:0040283	ORPHA:950
5573	PRKAR1A	HP:0100608	Metrorrhagia	HP:0040284	ORPHA:520
5573	PRKAR1A	HP:0100619	Sertoli cell neoplasm	HP:0040282	ORPHA:1359
5573	PRKAR1A	HP:0100618	Leydig cell neoplasia	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0001074	Atypical nevi in non-sun exposed areas	HP:0040282	ORPHA:1359
5573	PRKAR1A	HP:0009803	Short phalanx of finger	-	OMIM:615777
5573	PRKAR1A	HP:0009803	Short phalanx of finger	5/5	OMIM:101800
5573	PRKAR1A	HP:0100638	Neoplasm of the pharynx	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0010785	Gonadal neoplasm	HP:0040282	ORPHA:1359
5573	PRKAR1A	HP:0010788	Testicular neoplasm	HP:0040282	ORPHA:1359
5573	PRKAR1A	HP:0008479	Hypoplastic vertebral bodies	-	OMIM:101800
5573	PRKAR1A	HP:0008450	Narrow vertebral interpedicular distance	2/3	OMIM:101800
5573	PRKAR1A	HP:0010741	Pedal edema	HP:0040283	ORPHA:615
5573	PRKAR1A	HP:0010743	Short metatarsal	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0010743	Short metatarsal	5/5	OMIM:101800
5573	PRKAR1A	HP:0009763	Limb pain	63/92	OMIM:131300
5573	PRKAR1A	HP:0010732	Nodular changes affecting the eyelids	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0003621	Juvenile onset	-	OMIM:131300
5573	PRKAR1A	HP:0003621	Juvenile onset	4/5	OMIM:610489
5573	PRKAR1A	HP:0004944	Dilatation of the cerebral artery	HP:0040284	ORPHA:615
5573	PRKAR1A	HP:0004944	Dilatation of the cerebral artery	HP:0040284	ORPHA:1359
5573	PRKAR1A	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5573	PRKAR1A	HP:0005521	Disseminated intravascular coagulation	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0004279	Short palm	2/2	OMIM:101800
5573	PRKAR1A	HP:0005587	Profuse pigmented skin lesions	-	OMIM:160980
5573	PRKAR1A	HP:0005585	Spotty hyperpigmentation	HP:0040282	ORPHA:1359
5573	PRKAR1A	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5573	PRKAR1A	HP:0000635	Blue irides	-	OMIM:101800
5573	PRKAR1A	HP:0001962	Palpitations	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:6001056	Out-toeing	-	OMIM:131300
5573	PRKAR1A	HP:0000651	Diplopia	-	OMIM:131300
5573	PRKAR1A	HP:0000648	Optic atrophy	-	OMIM:101800
5573	PRKAR1A	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:520
5573	PRKAR1A	HP:0001945	Fever	HP:0040283	ORPHA:615
5573	PRKAR1A	HP:0001945	Fever	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0001956	Truncal obesity	2/7	OMIM:615777
5573	PRKAR1A	HP:0001956	Truncal obesity	-	OMIM:610489
5573	PRKAR1A	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0001907	Thromboembolism	HP:0040283	ORPHA:615
5573	PRKAR1A	HP:0001907	Thromboembolism	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0001903	Anemia	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0001903	Anemia	HP:0040283	OMIM:131300
5573	PRKAR1A	HP:0010049	Short metacarpal	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0010049	Short metacarpal	-	OMIM:615777
5573	PRKAR1A	HP:0010049	Short metacarpal	5/5	OMIM:101800
5573	PRKAR1A	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0000684	Delayed eruption of teeth	-	OMIM:101800
5573	PRKAR1A	HP:0011342	Mild global developmental delay	2/2	OMIM:101800
5573	PRKAR1A	HP:0000678	Dental crowding	-	OMIM:615777
5573	PRKAR1A	HP:0000689	Dental malocclusion	-	OMIM:101800
5573	PRKAR1A	HP:0000670	Carious teeth	-	OMIM:131300
5573	PRKAR1A	HP:0011304	Broad thumb	2/7	OMIM:615777
5573	PRKAR1A	HP:0000668	Hypodontia	-	OMIM:615777
5573	PRKAR1A	HP:0000668	Hypodontia	-	OMIM:101800
5573	PRKAR1A	HP:0000664	Synophrys	-	OMIM:615777
5573	PRKAR1A	HP:0004324	Increased body weight	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0004324	Increased body weight	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0004322	Short stature	9/10	OMIM:101800
5573	PRKAR1A	HP:0004322	Short stature	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0005616	Accelerated skeletal maturation	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0005616	Accelerated skeletal maturation	3/3	OMIM:101800
5573	PRKAR1A	HP:0003083	Dislocated radial head	-	OMIM:101800
5573	PRKAR1A	HP:0004396	Poor appetite	-	OMIM:131300
5573	PRKAR1A	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5573	PRKAR1A	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5573	PRKAR1A	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5573	PRKAR1A	HP:0003026	Short long bone	7/7	OMIM:615777
5573	PRKAR1A	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5573	PRKAR1A	HP:0003022	Hypoplasia of the ulna	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0100013	Neoplasm of the breast	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0012743	Abdominal obesity	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0100008	Schwannoma	-	OMIM:160980
5573	PRKAR1A	HP:0100008	Schwannoma	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0000771	Gynecomastia	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5573	PRKAR1A	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5573	PRKAR1A	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5573	PRKAR1A	HP:0000737	Irritability	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0000739	Anxiety	-	OMIM:610489
5573	PRKAR1A	HP:0000739	Anxiety	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0000750	Delayed speech and language development	-	OMIM:615777
5573	PRKAR1A	HP:0000716	Depression	-	OMIM:610489
5573	PRKAR1A	HP:0000712	Emotional lability	-	OMIM:610489
5573	PRKAR1A	HP:0000713	Agitation	-	OMIM:610489
5573	PRKAR1A	HP:0000709	Psychosis	-	OMIM:610489
5573	PRKAR1A	HP:0000708	Atypical behavior	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0011462	Young adult onset	1/5	OMIM:610489
5573	PRKAR1A	HP:0011461	Fetal onset	7/7	OMIM:615777
5573	PRKAR1A	HP:0000798	Oligozoospermia	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0000774	Narrow chest	2/7	OMIM:615777
5573	PRKAR1A	HP:0000790	Hematuria	HP:0040284	ORPHA:520
5573	PRKAR1A	HP:0003110	Abnormality of urine homeostasis	HP:0040283	ORPHA:1501
5573	PRKAR1A	HP:0003118	Increased circulating cortisol level	5/5	OMIM:610489
5573	PRKAR1A	HP:0003118	Increased circulating cortisol level	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0003118	Increased circulating cortisol level	HP:0040282	ORPHA:1359
5573	PRKAR1A	HP:0005756	Neonatal epiphyseal stippling	-	OMIM:101800
5573	PRKAR1A	HP:0003196	Short nose	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0000926	Platyspondyly	1/7	OMIM:615777
5573	PRKAR1A	HP:0003180	Flat acetabular roof	-	OMIM:615777
5573	PRKAR1A	HP:0004482	Relative macrocephaly	-	OMIM:615777
5573	PRKAR1A	HP:0003165	Elevated circulating parathyroid hormone level	8/8	OMIM:101800
5573	PRKAR1A	HP:0004490	Calvarial hyperostosis	-	OMIM:101800
5573	PRKAR1A	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5573	PRKAR1A	HP:0000859	Increased circulating aldosterone concentration	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:950
5573	PRKAR1A	HP:0000858	Irregular menstruation	-	OMIM:101800
5573	PRKAR1A	HP:0000851	Congenital hypothyroidism	1/2	OMIM:101800
5573	PRKAR1A	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:1359
5573	PRKAR1A	HP:0000869	Secondary amenorrhea	1/4	OMIM:610489
5573	PRKAR1A	HP:0000866	Euthyroid multinodular goiter	HP:0040282	ORPHA:1359
5573	PRKAR1A	HP:0000845	Elevated circulating growth hormone concentration	-	OMIM:160980
5573	PRKAR1A	HP:0000845	Elevated circulating growth hormone concentration	HP:0040282	ORPHA:1359
5573	PRKAR1A	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1359
5573	PRKAR1A	HP:0000822	Hypertension	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0000822	Hypertension	-	OMIM:610489
5573	PRKAR1A	HP:0000822	Hypertension	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0000823	Delayed puberty	-	OMIM:131300
5573	PRKAR1A	HP:0010280	Stomatitis	HP:0040283	ORPHA:520
5573	PRKAR1A	HP:0040071	Abnormal morphology of ulna	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0012887	Ovarian serous cystadenoma	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	5/5	OMIM:101800
5573	PRKAR1A	HP:0000894	Short clavicles	-	OMIM:615777
5573	PRKAR1A	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5573	PRKAR1A	HP:0000998	Hypertrichosis	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:950
5573	PRKAR1A	HP:0000995	Melanocytic nevus	-	OMIM:101800
5573	PRKAR1A	HP:0000979	Purpura	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0000978	Bruising susceptibility	-	OMIM:610489
5573	PRKAR1A	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5573	PRKAR1A	HP:0000952	Jaundice	HP:0040283	ORPHA:615
5573	PRKAR1A	HP:0000967	Petechiae	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0000963	Thin skin	-	OMIM:610489
5573	PRKAR1A	HP:0000939	Osteoporosis	-	OMIM:610489
5573	PRKAR1A	HP:0000938	Osteopenia	-	OMIM:610489
5573	PRKAR1A	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0000940	Abnormal diaphysis morphology	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0011672	Cardiac myxoma	5/10	OMIM:160980
5573	PRKAR1A	HP:0011672	Cardiac myxoma	HP:0040280	ORPHA:615
5573	PRKAR1A	HP:0011672	Cardiac myxoma	HP:0040282	ORPHA:1359
5573	PRKAR1A	HP:0011672	Cardiac myxoma	-	OMIM:255960
5573	PRKAR1A	HP:0000286	Epicanthus	-	OMIM:101800
5573	PRKAR1A	HP:0000286	Epicanthus	HP:0040283	ORPHA:950
5573	PRKAR1A	HP:0000286	Epicanthus	1/7	OMIM:615777
5573	PRKAR1A	HP:0000280	Coarse facial features	2/7	OMIM:615777
5573	PRKAR1A	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0002818	Abnormal morphology of the radius	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0002827	Hip dislocation	3/7	OMIM:615777
5573	PRKAR1A	HP:0030075	Ductal carcinoma in situ	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0002823	Abnormal femur morphology	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0030072	Paranasal sinus neoplasm	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0030078	Lung adenocarcinoma	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0030088	Increased serum testosterone level	2/4	OMIM:610489
5573	PRKAR1A	HP:0002808	Kyphosis	-	OMIM:610489
5573	PRKAR1A	HP:0000238	Hydrocephalus	-	OMIM:101800
5573	PRKAR1A	HP:0000252	Microcephaly	-	OMIM:615777
5573	PRKAR1A	HP:0001580	Pigmented micronodular adrenocortical disease	-	OMIM:610489
5573	PRKAR1A	HP:0001580	Pigmented micronodular adrenocortical disease	HP:0040281	ORPHA:1359
5573	PRKAR1A	HP:0001579	Primary hypercortisolism	-	OMIM:610489
5573	PRKAR1A	HP:0000248	Brachycephaly	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0000248	Brachycephaly	-	OMIM:101800
5573	PRKAR1A	HP:0012206	Abnormal sperm motility	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:520
5573	PRKAR1A	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:615
5573	PRKAR1A	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0002894	Neoplasm of the pancreas	HP:0040284	ORPHA:1359
5573	PRKAR1A	HP:0002895	Papillary thyroid carcinoma	HP:0040284	ORPHA:1359
5573	PRKAR1A	HP:0002893	Pituitary adenoma	-	OMIM:160980
5573	PRKAR1A	HP:0002890	Thyroid carcinoma	-	OMIM:160980
5573	PRKAR1A	HP:0002890	Thyroid carcinoma	HP:0040284	ORPHA:1359
5573	PRKAR1A	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0001530	Mild postnatal growth retardation	-	OMIM:101800
5573	PRKAR1A	HP:0002857	Genu valgum	-	OMIM:131300
5573	PRKAR1A	HP:0001541	Ascites	HP:0040283	ORPHA:615
5573	PRKAR1A	HP:0001533	Slender build	-	OMIM:131300
5573	PRKAR1A	HP:0030038	Enchondroma	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0031364	Ecchymosis	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0001507	Growth abnormality	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0001518	Small for gestational age	1/3	OMIM:101800
5573	PRKAR1A	HP:0001511	Intrauterine growth retardation	1/5	OMIM:101800
5573	PRKAR1A	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5573	PRKAR1A	HP:0007832	Pigmentation of the sclera	-	OMIM:160980
5573	PRKAR1A	HP:0007807	Optic nerve compression	-	OMIM:131300
5573	PRKAR1A	HP:0012378	Fatigue	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0012368	Flat face	HP:0040283	ORPHA:950
5573	PRKAR1A	HP:0012368	Flat face	7/7	OMIM:615777
5573	PRKAR1A	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5573	PRKAR1A	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	6/8	OMIM:101800
5573	PRKAR1A	HP:0002920	Decreased circulating ACTH concentration	-	OMIM:610489
5573	PRKAR1A	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:615
5573	PRKAR1A	HP:0002905	Hyperphosphatemia	3/3	OMIM:101800
5573	PRKAR1A	HP:0002900	Hypokalemia	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0006487	Bowing of the long bones	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0000365	Hearing impairment	1/2	OMIM:101800
5573	PRKAR1A	HP:0000365	Hearing impairment	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0000365	Hearing impairment	10/67	OMIM:131300
5573	PRKAR1A	HP:0000343	Long philtrum	1/7	OMIM:615777
5573	PRKAR1A	HP:0011001	Increased bone mineral density	-	OMIM:131300
5573	PRKAR1A	HP:0002983	Micromelia	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0000316	Hypertelorism	-	OMIM:101800
5573	PRKAR1A	HP:0000316	Hypertelorism	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0030140	Oral cavity bleeding	HP:0040283	ORPHA:520
5573	PRKAR1A	HP:0000311	Round face	2/7	OMIM:615777
5573	PRKAR1A	HP:0000311	Round face	-	OMIM:610489
5573	PRKAR1A	HP:0030148	Heart murmur	HP:0040281	ORPHA:615
5573	PRKAR1A	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0000327	Hypoplasia of the maxilla	3/3	OMIM:101800
5573	PRKAR1A	HP:0002984	Hypoplasia of the radius	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:615
5573	PRKAR1A	HP:0002970	Genu varum	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0002970	Genu varum	-	OMIM:615777
5573	PRKAR1A	HP:0001635	Congestive heart failure	-	OMIM:160980
5573	PRKAR1A	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:615
5573	PRKAR1A	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0000303	Mandibular prognathia	-	OMIM:131300
5573	PRKAR1A	HP:0000303	Mandibular prognathia	1/5	OMIM:101800
5573	PRKAR1A	HP:0006691	Pulmonic valve myxoma	HP:0040281	ORPHA:615
5573	PRKAR1A	HP:0006691	Pulmonic valve myxoma	-	OMIM:255960
5573	PRKAR1A	HP:0006689	Bacterial endocarditis	HP:0040283	ORPHA:615
5573	PRKAR1A	HP:0006689	Bacterial endocarditis	-	OMIM:255960
5573	PRKAR1A	HP:0005280	Depressed nasal bridge	12/15	OMIM:101800
5573	PRKAR1A	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5573	PRKAR1A	HP:0000486	Strabismus	-	OMIM:101800
5573	PRKAR1A	HP:0000463	Anteverted nares	-	OMIM:101800
5573	PRKAR1A	HP:0000463	Anteverted nares	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0000455	Broad nasal tip	-	OMIM:101800
5573	PRKAR1A	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0000470	Short neck	1/7	OMIM:615777
5573	PRKAR1A	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5573	PRKAR1A	HP:0001763	Pes planus	1/7	OMIM:615777
5573	PRKAR1A	HP:0030269	Increased circulating insulin-like growth factor 1 concentration	HP:0040282	ORPHA:1359
5573	PRKAR1A	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0000421	Epistaxis	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0006753	Neoplasm of the stomach	HP:0040283	ORPHA:1359
5573	PRKAR1A	HP:0006744	Adrenocortical carcinoma	HP:0040280	ORPHA:1501
5573	PRKAR1A	HP:0006731	Follicular thyroid carcinoma	HP:0040284	ORPHA:1359
5573	PRKAR1A	HP:0030428	Cutaneous myxoma	HP:0040282	ORPHA:1359
5573	PRKAR1A	HP:0006769	Myxoid subcutaneous tumors	-	OMIM:160980
5573	PRKAR1A	HP:0001847	Long hallux	-	OMIM:101800
5573	PRKAR1A	HP:0001840	Metatarsus adductus	-	OMIM:615777
5573	PRKAR1A	HP:0000520	Proptosis	2/4	OMIM:131300
5573	PRKAR1A	HP:0000520	Proptosis	7/7	OMIM:615777
5573	PRKAR1A	HP:0001824	Weight loss	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0001824	Weight loss	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0000506	Telecanthus	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0001831	Short toe	HP:0040281	ORPHA:950
5573	PRKAR1A	HP:0030348	Increased circulating androgen concentration	HP:0040282	ORPHA:1501
5573	PRKAR1A	HP:0000592	Blue sclerae	2/7	OMIM:615777
5573	PRKAR1A	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0011220	Prominent forehead	HP:0040282	ORPHA:950
5573	PRKAR1A	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5573	PRKAR1A	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0012514	Lower limb pain	4/4	OMIM:131300
5573	PRKAR1A	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0001876	Pancytopenia	HP:0040282	ORPHA:520
5573	PRKAR1A	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:520
5575	PRKAR1B	HP:0001182	Tapered finger	1/6	OMIM:619680
5575	PRKAR1B	HP:0001156	Brachydactyly	1/6	OMIM:619680
5575	PRKAR1B	HP:0002463	Language impairment	HP:0040282	ORPHA:412066
5575	PRKAR1B	HP:0007311	Short stepped shuffling gait	HP:0040282	ORPHA:412066
5575	PRKAR1B	HP:0001250	Seizure	1/6	OMIM:619680
5575	PRKAR1B	HP:0001263	Global developmental delay	6/6	OMIM:619680
5575	PRKAR1B	HP:0007373	Motor neuron atrophy	-	ORPHA:412066
5575	PRKAR1B	HP:0002527	Falls	HP:0040282	ORPHA:412066
5575	PRKAR1B	HP:0002506	Diffuse cerebral atrophy	HP:0040282	ORPHA:412066
5575	PRKAR1B	HP:0002503	Spinocerebellar tract degeneration	-	ORPHA:412066
5575	PRKAR1B	HP:0001357	Plagiocephaly	1/6	OMIM:619680
5575	PRKAR1B	HP:0001337	Tremor	1/6	OMIM:619680
5575	PRKAR1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:619680
5575	PRKAR1B	HP:0001319	Neonatal hypotonia	3/3	OMIM:619680
5575	PRKAR1B	HP:0001300	Parkinsonism	HP:0040282	ORPHA:412066
5575	PRKAR1B	HP:0000176	Submucous cleft hard palate	1/6	OMIM:619680
5575	PRKAR1B	HP:0002714	Downturned corners of mouth	1/6	OMIM:619680
5575	PRKAR1B	HP:0002067	Bradykinesia	HP:0040282	ORPHA:412066
5575	PRKAR1B	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:412066
5575	PRKAR1B	HP:0002172	Postural instability	HP:0040282	ORPHA:412066
5575	PRKAR1B	HP:0003593	Infantile onset	3/6	OMIM:619680
5575	PRKAR1B	HP:0003577	Congenital onset	3/6	OMIM:619680
5575	PRKAR1B	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:412066
5575	PRKAR1B	HP:0032005	Hemidystonia	1/6	OMIM:619680
5575	PRKAR1B	HP:0010677	Enuresis nocturna	1/6	OMIM:619680
5575	PRKAR1B	HP:0007018	Attention deficit hyperactivity disorder	5/5	OMIM:619680
5575	PRKAR1B	HP:0002362	Shuffling gait	HP:0040282	ORPHA:412066
5575	PRKAR1B	HP:0002354	Memory impairment	HP:0040281	ORPHA:412066
5575	PRKAR1B	HP:0002333	Motor deterioration	HP:0040281	ORPHA:412066
5575	PRKAR1B	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:412066
5575	PRKAR1B	HP:4000079	Sensory seeking	1/6	OMIM:619680
5575	PRKAR1B	HP:0006892	Frontotemporal cerebral atrophy	HP:0040283	ORPHA:412066
5575	PRKAR1B	HP:0000601	Hypotelorism	1/6	OMIM:619680
5575	PRKAR1B	HP:0012745	Short palpebral fissure	1/6	OMIM:619680
5575	PRKAR1B	HP:0100023	Recurrent hand flapping	1/6	OMIM:619680
5575	PRKAR1B	HP:0000739	Anxiety	HP:0040282	ORPHA:412066
5575	PRKAR1B	HP:0000736	Short attention span	HP:0040282	ORPHA:412066
5575	PRKAR1B	HP:0000750	Delayed speech and language development	6/6	OMIM:619680
5575	PRKAR1B	HP:0000741	Apathy	HP:0040282	ORPHA:412066
5575	PRKAR1B	HP:0000719	Inappropriate behavior	HP:0040281	ORPHA:412066
5575	PRKAR1B	HP:0000718	Aggressive behavior	3/6	OMIM:619680
5575	PRKAR1B	HP:0000726	Dementia	HP:0040280	ORPHA:412066
5575	PRKAR1B	HP:0000729	Autistic behavior	6/6	OMIM:619680
5575	PRKAR1B	HP:0012757	Abnormal neuron morphology	HP:0040281	ORPHA:412066
5575	PRKAR1B	HP:0040082	Happy demeanor	1/6	OMIM:619680
5575	PRKAR1B	HP:0000286	Epicanthus	2/6	OMIM:619680
5575	PRKAR1B	HP:0000252	Microcephaly	1/6	OMIM:619680
5575	PRKAR1B	HP:0000219	Thin upper lip vermilion	1/6	OMIM:619680
5575	PRKAR1B	HP:0002870	Obstructive sleep apnea	2/6	OMIM:619680
5575	PRKAR1B	HP:0001513	Obesity	1/6	OMIM:619680
5575	PRKAR1B	HP:0011098	Speech apraxia	6/6	OMIM:619680
5575	PRKAR1B	HP:0000358	Posteriorly rotated ears	1/6	OMIM:619680
5575	PRKAR1B	HP:0000341	Narrow forehead	1/6	OMIM:619680
5575	PRKAR1B	HP:0000311	Round face	1/6	OMIM:619680
5575	PRKAR1B	HP:0000403	Recurrent otitis media	1/6	OMIM:619680
5575	PRKAR1B	HP:0005280	Depressed nasal bridge	1/6	OMIM:619680
5575	PRKAR1B	HP:0030216	Inertia	HP:0040282	ORPHA:412066
5575	PRKAR1B	HP:0000483	Astigmatism	1/6	OMIM:619680
5575	PRKAR1B	HP:0000455	Broad nasal tip	1/6	OMIM:619680
5575	PRKAR1B	HP:0000473	Torticollis	1/6	OMIM:619680
5575	PRKAR1B	HP:0000582	Upslanted palpebral fissure	4/6	OMIM:619680
5575	PRKAR1B	HP:0000565	Esotropia	1/6	OMIM:619680
5580	PRKCD	HP:0003774	Stage 5 chronic kidney disease	1/3	OMIM:615559
5580	PRKCD	HP:0410293	Absent isohemagglutinin level	1/1	OMIM:615559
5580	PRKCD	HP:0031041	Obstruction of the superior vena cava	1/1	OMIM:615559
5580	PRKCD	HP:0001369	Arthritis	1/3	OMIM:615559
5580	PRKCD	HP:0000010	Recurrent urinary tract infections	1/1	OMIM:615559
5580	PRKCD	HP:0000007	Autosomal recessive inheritance	-	OMIM:615559
5580	PRKCD	HP:0012177	Abnormal natural killer cell physiology	1/1	OMIM:615559
5580	PRKCD	HP:0025475	Erythematous macule	1/1	OMIM:615559
5580	PRKCD	HP:0008940	Generalized lymphadenopathy	1/1	OMIM:615559
5580	PRKCD	HP:0002783	Recurrent lower respiratory tract infections	1/1	OMIM:615559
5580	PRKCD	HP:0002788	Recurrent upper respiratory tract infections	1/1	OMIM:615559
5580	PRKCD	HP:0000100	Nephrotic syndrome	1/1	OMIM:615559
5580	PRKCD	HP:0001433	Hepatosplenomegaly	2/2	OMIM:615559
5580	PRKCD	HP:0002719	Recurrent infections	1/1	OMIM:615559
5580	PRKCD	HP:0002716	Lymphadenopathy	1/1	OMIM:615559
5580	PRKCD	HP:0002729	Follicular hyperplasia	1/1	OMIM:615559
5580	PRKCD	HP:0003493	Antinuclear antibody positivity	1/1	OMIM:615559
5580	PRKCD	HP:0033207	Increased CD21low B cell proportion	1/1	OMIM:615559
5580	PRKCD	HP:0002240	Hepatomegaly	2/3	OMIM:615559
5580	PRKCD	HP:0003565	Elevated erythrocyte sedimentation rate	1/1	OMIM:615559
5580	PRKCD	HP:0010702	Increased circulating immunoglobulin concentration	1/1	OMIM:615559
5580	PRKCD	HP:0100721	Mediastinal lymphadenopathy	1/1	OMIM:615559
5580	PRKCD	HP:0020072	Persistent EBV viremia	1/1	OMIM:615559
5580	PRKCD	HP:0020136	Anticardiolipin IgG antibody positivity	1/1	OMIM:615559
5580	PRKCD	HP:0005523	Lymphoproliferative disorder	2/3	OMIM:615559
5580	PRKCD	HP:0001973	Autoimmune thrombocytopenia	1/3	OMIM:615559
5580	PRKCD	HP:0001954	Recurrent fever	1/1	OMIM:615559
5580	PRKCD	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:615559
5580	PRKCD	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:615559
5580	PRKCD	HP:0045042	Decreased circulating complement C4 concentration	2/3	OMIM:615559
5580	PRKCD	HP:0001596	Alopecia	1/3	OMIM:615559
5580	PRKCD	HP:0002960	Autoimmunity	-	OMIM:615559
5580	PRKCD	HP:0000403	Recurrent otitis media	1/1	OMIM:615559
5580	PRKCD	HP:0011108	Recurrent sinusitis	1/1	OMIM:615559
5580	PRKCD	HP:0001744	Splenomegaly	1/3	OMIM:615559
5580	PRKCD	HP:0005404	Increased total B cell count	2/2	OMIM:615559
5580	PRKCD	HP:0005421	Decreased circulating complement C3 concentration	2/3	OMIM:615559
5580	PRKCD	HP:0012578	Membranous nephropathy	1/1	OMIM:615559
5580	PRKCD	HP:0011227	Elevated circulating C-reactive protein concentration	1/1	OMIM:615559
5580	PRKCD	HP:0001890	Autoimmune hemolytic anemia	1/3	OMIM:615559
5580	PRKCD	HP:0030374	Decreased proportion of memory B cells	1/1	OMIM:615559
5580	PRKCD	HP:0030388	Decreased class-switched memory B cell proportion	1/1	OMIM:615559
5582	PRKCG	HP:0001152	Saccadic smooth pursuit	HP:0040283	ORPHA:98763
5582	PRKCG	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:98763
5582	PRKCG	HP:0001272	Cerebellar atrophy	-	OMIM:605361
5582	PRKCG	HP:0001268	Mental deterioration	-	OMIM:605361
5582	PRKCG	HP:0001260	Dysarthria	HP:0040283	ORPHA:98763
5582	PRKCG	HP:0001260	Dysarthria	-	OMIM:605361
5582	PRKCG	HP:0003829	Typified by incomplete penetrance	-	OMIM:605361
5582	PRKCG	HP:0001347	Hyperreflexia	-	OMIM:605361
5582	PRKCG	HP:0001337	Tremor	HP:0040283	ORPHA:98763
5582	PRKCG	HP:0000006	Autosomal dominant inheritance	-	OMIM:605361
5582	PRKCG	HP:0001336	Myoclonus	HP:0040283	ORPHA:98763
5582	PRKCG	HP:0001310	Dysmetria	-	OMIM:605361
5582	PRKCG	HP:0002600	Hyporeflexia of lower limbs	HP:0040283	ORPHA:98763
5582	PRKCG	HP:0002015	Dysphagia	-	OMIM:605361
5582	PRKCG	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:98763
5582	PRKCG	HP:0002066	Gait ataxia	HP:0040281	ORPHA:98763
5582	PRKCG	HP:0002066	Gait ataxia	-	OMIM:605361
5582	PRKCG	HP:0002063	Rigidity	HP:0040283	ORPHA:98763
5582	PRKCG	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:98763
5582	PRKCG	HP:0002073	Progressive cerebellar ataxia	-	OMIM:605361
5582	PRKCG	HP:0002070	Limb ataxia	HP:0040282	ORPHA:98763
5582	PRKCG	HP:0003474	Somatic sensory dysfunction	HP:0040283	ORPHA:98763
5582	PRKCG	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:605361
5582	PRKCG	HP:0002354	Memory impairment	-	OMIM:605361
5582	PRKCG	HP:0003677	Slowly progressive	-	OMIM:605361
5582	PRKCG	HP:0006855	Cerebellar vermis atrophy	HP:0040282	ORPHA:98763
5582	PRKCG	HP:0000640	Gaze-evoked nystagmus	HP:0040283	ORPHA:98763
5582	PRKCG	HP:0000639	Nystagmus	-	OMIM:605361
5582	PRKCG	HP:0006938	Impaired vibration sensation at ankles	-	OMIM:605361
5582	PRKCG	HP:0004373	Focal dystonia	-	OMIM:605361
5582	PRKCG	HP:0000716	Depression	-	OMIM:605361
5582	PRKCG	HP:0005109	Abnormality of the Achilles tendon	HP:0040282	ORPHA:98763
5582	PRKCG	HP:0000317	Facial myokymia	-	OMIM:605361
5583	PRKCH	HP:0001297	Stroke	-	OMIM:601367
5583	PRKCH	HP:0001426	Non-Mendelian inheritance	-	OMIM:601367
5583	PRKCH	HP:0003581	Adult onset	-	OMIM:601367
5587	PRKD1	HP:0009890	High anterior hairline	1/3	OMIM:617364
5587	PRKD1	HP:0001290	Generalized hypotonia	1/3	OMIM:617364
5587	PRKD1	HP:0001263	Global developmental delay	-	OMIM:617364
5587	PRKD1	HP:0001328	Specific learning disability	1/3	OMIM:617364
5587	PRKD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
5587	PRKD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617364
5587	PRKD1	HP:0002650	Scoliosis	1/3	OMIM:617364
5587	PRKD1	HP:0006323	Premature loss of primary teeth	1/3	OMIM:617364
5587	PRKD1	HP:0002007	Frontal bossing	1/3	OMIM:617364
5587	PRKD1	HP:0003577	Congenital onset	3/3	OMIM:617364
5587	PRKD1	HP:0002209	Sparse scalp hair	2/3	OMIM:617364
5587	PRKD1	HP:0007018	Attention deficit hyperactivity disorder	1/3	OMIM:617364
5587	PRKD1	HP:0011968	Feeding difficulties	2/3	OMIM:617364
5587	PRKD1	HP:0010747	Medial flaring of the eyebrow	1/3	OMIM:617364
5587	PRKD1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
5587	PRKD1	HP:0000639	Nystagmus	1/3	OMIM:617364
5587	PRKD1	HP:0000691	Microdontia	1/3	OMIM:617364
5587	PRKD1	HP:0000687	Widely spaced teeth	2/3	OMIM:617364
5587	PRKD1	HP:0011304	Broad thumb	1/3	OMIM:617364
5587	PRKD1	HP:0000750	Delayed speech and language development	1/2	OMIM:617364
5587	PRKD1	HP:0005709	2-3 toe cutaneous syndactyly	1/3	OMIM:617364
5587	PRKD1	HP:0004467	Preauricular pit	-	OMIM:187500
5587	PRKD1	HP:0000958	Dry skin	1/3	OMIM:617364
5587	PRKD1	HP:0000963	Thin skin	1/3	OMIM:617364
5587	PRKD1	HP:0000252	Microcephaly	2/3	OMIM:617364
5587	PRKD1	HP:0000248	Brachycephaly	1/3	OMIM:617364
5587	PRKD1	HP:0000337	Broad forehead	-	OMIM:187500
5587	PRKD1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
5587	PRKD1	HP:0006695	Atrioventricular canal defect	2/3	OMIM:617364
5587	PRKD1	HP:0005280	Depressed nasal bridge	1/3	OMIM:617364
5587	PRKD1	HP:0000463	Anteverted nares	1/3	OMIM:617364
5587	PRKD1	HP:0000426	Prominent nasal bridge	1/3	OMIM:617364
5587	PRKD1	HP:0000520	Proptosis	-	OMIM:187500
5587	PRKD1	HP:0001808	Fragile nails	1/3	OMIM:617364
5587	PRKD1	HP:0001869	Deep plantar creases	1/3	OMIM:617364
5589	PRKCSH	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:2924
5589	PRKCSH	HP:0000006	Autosomal dominant inheritance	-	OMIM:174050
5589	PRKCSH	HP:0002617	Vascular dilatation	HP:0040283	ORPHA:2924
5589	PRKCSH	HP:0033842	Early satiety	HP:0040282	ORPHA:2924
5589	PRKCSH	HP:0000107	Renal cyst	-	OMIM:174050
5589	PRKCSH	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:2924
5589	PRKCSH	HP:0002027	Abdominal pain	HP:0040283	ORPHA:2924
5589	PRKCSH	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:2924
5589	PRKCSH	HP:0002094	Dyspnea	HP:0040283	ORPHA:2924
5589	PRKCSH	HP:0002094	Dyspnea	-	OMIM:174050
5589	PRKCSH	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:2924
5589	PRKCSH	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040283	ORPHA:2924
5589	PRKCSH	HP:0003418	Back pain	-	OMIM:174050
5589	PRKCSH	HP:0003418	Back pain	HP:0040283	ORPHA:2924
5589	PRKCSH	HP:0003573	Increased total bilirubin	HP:0040283	ORPHA:2924
5589	PRKCSH	HP:0003573	Increased total bilirubin	-	OMIM:174050
5589	PRKCSH	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2924
5589	PRKCSH	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:2924
5589	PRKCSH	HP:0003581	Adult onset	6/6	OMIM:174050
5589	PRKCSH	HP:0010741	Pedal edema	HP:0040283	ORPHA:2924
5589	PRKCSH	HP:0004944	Dilatation of the cerebral artery	0/6	OMIM:174050
5589	PRKCSH	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:2924
5589	PRKCSH	HP:0005562	Multiple renal cysts	HP:0040282	ORPHA:2924
5589	PRKCSH	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040283	OMIM:174050
5589	PRKCSH	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040283	ORPHA:2924
5589	PRKCSH	HP:0003270	Abdominal distention	-	OMIM:174050
5589	PRKCSH	HP:0003270	Abdominal distention	HP:0040281	ORPHA:2924
5589	PRKCSH	HP:0000952	Jaundice	HP:0040283	ORPHA:2924
5589	PRKCSH	HP:0001541	Ascites	-	OMIM:174050
5589	PRKCSH	HP:0006557	Polycystic liver disease	HP:0040281	ORPHA:2924
5589	PRKCSH	HP:0006557	Polycystic liver disease	6/6	OMIM:174050
5589	PRKCSH	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:2924
5589	PRKCSH	HP:0001732	Abnormality of the pancreas	HP:0040283	ORPHA:2924
5590	PRKCZ	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0002465	Poor speech	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0001107	Ocular albinism	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0008551	Microtia	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0001250	Seizure	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0001252	Hypotonia	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0002591	Polyphagia	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000055	Abnormal female external genitalia morphology	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000047	Hypospadias	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0001344	Absent speech	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0002650	Scoliosis	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000160	Narrow mouth	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0000135	Hypogonadism	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000107	Renal cyst	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0002019	Constipation	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0002015	Dysphagia	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0002242	Abnormal intestine morphology	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0001009	Telangiectasia	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0008499	High hypermetropia	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000639	Nystagmus	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0004322	Short stature	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0004378	Abnormality of the anus	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0012733	Macule	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0000717	Autism	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0003198	Myopathy	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000902	Rib fusion	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000878	11 pairs of ribs	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000892	Bifid ribs	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000286	Epicanthus	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0002808	Kyphosis	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000252	Microcephaly	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0000248	Brachycephaly	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0001508	Failure to thrive	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0001513	Obesity	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000343	Long philtrum	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000307	Pointed chin	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0001734	Annular pancreas	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0000486	Strabismus	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0000490	Deeply set eye	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0000464	Abnormality of the neck	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0001773	Short foot	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0001743	Abnormality of the spleen	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0000518	Cataract	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000505	Visual impairment	HP:0040283	ORPHA:1606
5590	PRKCZ	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1606
5590	PRKCZ	HP:0011228	Horizontal eyebrow	HP:0040281	ORPHA:1606
5590	PRKCZ	HP:0000534	Abnormal eyebrow morphology	HP:0040282	ORPHA:1606
5591	PRKDC	HP:0009879	Simplified gyral pattern	HP:0040283	OMIM:615966
5591	PRKDC	HP:0001250	Seizure	HP:0040283	OMIM:615966
5591	PRKDC	HP:0010976	Decreased total B cell count	1/1	OMIM:615966
5591	PRKDC	HP:0000054	Micropenis	HP:0040283	OMIM:615966
5591	PRKDC	HP:0000007	Autosomal recessive inheritance	-	OMIM:615966
5591	PRKDC	HP:0001302	Pachygyria	HP:0040283	OMIM:615966
5591	PRKDC	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	OMIM:615966
5591	PRKDC	HP:0012176	Abnormal natural killer cell morphology	0/1	OMIM:615966
5591	PRKDC	HP:0002783	Recurrent lower respiratory tract infections	-	OMIM:615966
5591	PRKDC	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	OMIM:615966
5591	PRKDC	HP:0003429	CNS hypomyelination	HP:0040283	OMIM:615966
5591	PRKDC	HP:0010557	Overlapping fingers	HP:0040283	OMIM:615966
5591	PRKDC	HP:0003593	Infantile onset	1/1	OMIM:615966
5591	PRKDC	HP:0004430	Severe combined immunodeficiency	1/1	OMIM:615966
5591	PRKDC	HP:0000252	Microcephaly	-	OMIM:615966
5591	PRKDC	HP:0000219	Thin upper lip vermilion	HP:0040283	OMIM:615966
5591	PRKDC	HP:0001511	Intrauterine growth retardation	HP:0040283	OMIM:615966
5591	PRKDC	HP:0000369	Low-set ears	HP:0040283	OMIM:615966
5591	PRKDC	HP:0000343	Long philtrum	HP:0040283	OMIM:615966
5591	PRKDC	HP:0000331	Short chin	HP:0040283	OMIM:615966
5591	PRKDC	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:615966
5591	PRKDC	HP:0000490	Deeply set eye	HP:0040283	OMIM:615966
5591	PRKDC	HP:0012444	Brain atrophy	HP:0040283	OMIM:615966
5591	PRKDC	HP:0011107	Recurrent aphthous stomatitis	-	OMIM:615966
5591	PRKDC	HP:0000431	Wide nasal bridge	HP:0040283	OMIM:615966
5591	PRKDC	HP:0005403	Decreased total T cell count	1/1	OMIM:615966
5591	PRKDC	HP:0000505	Visual impairment	HP:0040283	OMIM:615966
5591	PRKDC	HP:0011220	Prominent forehead	HP:0040283	OMIM:615966
5592	PRKG1	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0001297	Stroke	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615436
5592	PRKG1	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0003581	Adult onset	-	OMIM:615436
5592	PRKG1	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
5592	PRKG1	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
5592	PRKG1	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
5592	PRKG1	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0004933	Ascending aortic dissection	11/31	OMIM:615436
5592	PRKG1	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
5592	PRKG1	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
5592	PRKG1	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
5592	PRKG1	HP:0030882	Coronary artery aneurysm	1/31	OMIM:615436
5592	PRKG1	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
5592	PRKG1	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0005112	Abdominal aortic aneurysm	12/37	OMIM:615436
5592	PRKG1	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
5592	PRKG1	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
5592	PRKG1	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
5592	PRKG1	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
5592	PRKG1	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
5592	PRKG1	HP:0012499	Descending aortic dissection	6/31	OMIM:615436
5592	PRKG1	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
5592	PRKG1	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
5592	PRKG1	HP:0006702	Coronary artery dissection	1/31	OMIM:615436
5592	PRKG1	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
5593	PRKG2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5593	PRKG2	HP:0001293	Cranial nerve compression	-	OMIM:131300
5593	PRKG2	HP:0001252	Hypotonia	1/1	OMIM:619638
5593	PRKG2	HP:0001252	Hypotonia	0/1	OMIM:619636
5593	PRKG2	HP:0001252	Hypotonia	2/7	OMIM:615777
5593	PRKG2	HP:0001249	Intellectual disability	5/7	OMIM:615777
5593	PRKG2	HP:0001263	Global developmental delay	-	OMIM:615777
5593	PRKG2	HP:0003890	Prominent deltoid tuberosities	1/2	OMIM:619636
5593	PRKG2	HP:0006009	Broad phalanx	2/2	OMIM:619636
5593	PRKG2	HP:0002515	Waddling gait	54/102	OMIM:131300
5593	PRKG2	HP:0001382	Joint hypermobility	-	OMIM:615777
5593	PRKG2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5593	PRKG2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5593	PRKG2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5593	PRKG2	HP:0001324	Muscle weakness	40/96	OMIM:131300
5593	PRKG2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5593	PRKG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619638
5593	PRKG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619636
5593	PRKG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5593	PRKG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5593	PRKG2	HP:0002650	Scoliosis	12/14	OMIM:131300
5593	PRKG2	HP:0002645	Wormian bones	1/1	OMIM:619638
5593	PRKG2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5593	PRKG2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5593	PRKG2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5593	PRKG2	HP:0008905	Rhizomelia	3/3	OMIM:619638
5593	PRKG2	HP:0008905	Rhizomelia	1/1	OMIM:619636
5593	PRKG2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5593	PRKG2	HP:0000175	Cleft palate	2/7	OMIM:615777
5593	PRKG2	HP:0002753	Thin bony cortex	1/3	OMIM:619638
5593	PRKG2	HP:0002750	Delayed skeletal maturation	1/1	OMIM:619638
5593	PRKG2	HP:0003388	Easy fatigability	36/76	OMIM:131300
5593	PRKG2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5593	PRKG2	HP:0003498	Disproportionate short stature	1/2	OMIM:619636
5593	PRKG2	HP:0003593	Infantile onset	1/3	OMIM:619638
5593	PRKG2	HP:0002230	Generalized hirsutism	1/2	OMIM:619636
5593	PRKG2	HP:0011968	Feeding difficulties	1/3	OMIM:619638
5593	PRKG2	HP:0003510	Severe short stature	7/7	OMIM:615777
5593	PRKG2	HP:0002315	Headache	-	OMIM:131300
5593	PRKG2	HP:0004976	Knee dislocation	6/7	OMIM:615777
5593	PRKG2	HP:0009803	Short phalanx of finger	2/2	OMIM:619636
5593	PRKG2	HP:0009803	Short phalanx of finger	-	OMIM:615777
5593	PRKG2	HP:0010743	Short metatarsal	1/1	OMIM:619636
5593	PRKG2	HP:0009763	Limb pain	63/92	OMIM:131300
5593	PRKG2	HP:0003621	Juvenile onset	1/3	OMIM:619638
5593	PRKG2	HP:0003621	Juvenile onset	-	OMIM:131300
5593	PRKG2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5593	PRKG2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5593	PRKG2	HP:6001056	Out-toeing	-	OMIM:131300
5593	PRKG2	HP:0000651	Diplopia	-	OMIM:131300
5593	PRKG2	HP:0001956	Truncal obesity	2/7	OMIM:615777
5593	PRKG2	HP:0001903	Anemia	HP:0040283	OMIM:131300
5593	PRKG2	HP:0010049	Short metacarpal	-	OMIM:615777
5593	PRKG2	HP:0010049	Short metacarpal	1/1	OMIM:619636
5593	PRKG2	HP:0010047	Short 5th metacarpal	1/3	OMIM:619638
5593	PRKG2	HP:0010044	Short 4th metacarpal	1/3	OMIM:619638
5593	PRKG2	HP:0000678	Dental crowding	-	OMIM:615777
5593	PRKG2	HP:0000670	Carious teeth	-	OMIM:131300
5593	PRKG2	HP:0011304	Broad thumb	2/7	OMIM:615777
5593	PRKG2	HP:0011304	Broad thumb	2/3	OMIM:619638
5593	PRKG2	HP:0000668	Hypodontia	-	OMIM:615777
5593	PRKG2	HP:0000664	Synophrys	2/3	OMIM:619636
5593	PRKG2	HP:0000664	Synophrys	-	OMIM:615777
5593	PRKG2	HP:0004322	Short stature	1/1	OMIM:619636
5593	PRKG2	HP:0005616	Accelerated skeletal maturation	1/2	OMIM:619636
5593	PRKG2	HP:0004396	Poor appetite	-	OMIM:131300
5593	PRKG2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5593	PRKG2	HP:0003031	Ulnar bowing	1/2	OMIM:619636
5593	PRKG2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5593	PRKG2	HP:0003015	Flared metaphysis	1/2	OMIM:619636
5593	PRKG2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5593	PRKG2	HP:0003026	Short long bone	7/7	OMIM:615777
5593	PRKG2	HP:0003027	Mesomelia	1/2	OMIM:619636
5593	PRKG2	HP:0003025	Metaphyseal irregularity	1/2	OMIM:619636
5593	PRKG2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5593	PRKG2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5593	PRKG2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5593	PRKG2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5593	PRKG2	HP:0000750	Delayed speech and language development	-	OMIM:615777
5593	PRKG2	HP:0011463	Childhood onset	1/3	OMIM:619638
5593	PRKG2	HP:0011463	Childhood onset	1/1	OMIM:619636
5593	PRKG2	HP:0011461	Fetal onset	7/7	OMIM:615777
5593	PRKG2	HP:0000774	Narrow chest	2/7	OMIM:615777
5593	PRKG2	HP:0000926	Platyspondyly	3/3	OMIM:619638
5593	PRKG2	HP:0000926	Platyspondyly	3/3	OMIM:619636
5593	PRKG2	HP:0000926	Platyspondyly	1/7	OMIM:615777
5593	PRKG2	HP:0000920	Enlargement of the costochondral junction	1/2	OMIM:619636
5593	PRKG2	HP:0003180	Flat acetabular roof	-	OMIM:615777
5593	PRKG2	HP:0004482	Relative macrocephaly	-	OMIM:615777
5593	PRKG2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5593	PRKG2	HP:0000884	Prominent sternum	1/2	OMIM:619636
5593	PRKG2	HP:0000823	Delayed puberty	-	OMIM:131300
5593	PRKG2	HP:0000894	Short clavicles	-	OMIM:615777
5593	PRKG2	HP:0004568	Beaking of vertebral bodies	1/2	OMIM:619636
5593	PRKG2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5593	PRKG2	HP:0004592	Thoracic platyspondyly	1/2	OMIM:619636
5593	PRKG2	HP:0000998	Hypertrichosis	1/1	OMIM:619636
5593	PRKG2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5593	PRKG2	HP:0009381	Short finger	3/3	OMIM:619636
5593	PRKG2	HP:0000286	Epicanthus	1/7	OMIM:615777
5593	PRKG2	HP:0000280	Coarse facial features	2/7	OMIM:615777
5593	PRKG2	HP:0002827	Hip dislocation	3/7	OMIM:615777
5593	PRKG2	HP:0000252	Microcephaly	-	OMIM:615777
5593	PRKG2	HP:0002857	Genu valgum	-	OMIM:131300
5593	PRKG2	HP:0002857	Genu valgum	1/2	OMIM:619636
5593	PRKG2	HP:0001537	Umbilical hernia	1/1	OMIM:619636
5593	PRKG2	HP:0001533	Slender build	-	OMIM:131300
5593	PRKG2	HP:0001500	Broad finger	1/1	OMIM:619636
5593	PRKG2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5593	PRKG2	HP:0007807	Optic nerve compression	-	OMIM:131300
5593	PRKG2	HP:0012368	Flat face	7/7	OMIM:615777
5593	PRKG2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5593	PRKG2	HP:0002938	Lumbar hyperlordosis	1/2	OMIM:619636
5593	PRKG2	HP:0002942	Thoracic kyphosis	2/3	OMIM:619638
5593	PRKG2	HP:0002943	Thoracic scoliosis	1/2	OMIM:619636
5593	PRKG2	HP:0000365	Hearing impairment	10/67	OMIM:131300
5593	PRKG2	HP:0000369	Low-set ears	1/2	OMIM:619636
5593	PRKG2	HP:0000343	Long philtrum	1/7	OMIM:615777
5593	PRKG2	HP:0011001	Increased bone mineral density	-	OMIM:131300
5593	PRKG2	HP:0002980	Femoral bowing	1/3	OMIM:619638
5593	PRKG2	HP:0000311	Round face	2/7	OMIM:615777
5593	PRKG2	HP:0002986	Radial bowing	1/2	OMIM:619636
5593	PRKG2	HP:0000325	Triangular face	1/3	OMIM:619638
5593	PRKG2	HP:0000325	Triangular face	1/2	OMIM:619636
5593	PRKG2	HP:0002970	Genu varum	1/2	OMIM:619636
5593	PRKG2	HP:0002970	Genu varum	-	OMIM:615777
5593	PRKG2	HP:0000307	Pointed chin	1/2	OMIM:619636
5593	PRKG2	HP:0000303	Mandibular prognathia	-	OMIM:131300
5593	PRKG2	HP:0000303	Mandibular prognathia	1/1	OMIM:619636
5593	PRKG2	HP:0001709	Third degree atrioventricular block	1/2	OMIM:619636
5593	PRKG2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5593	PRKG2	HP:0012450	Chronic constipation	1/1	OMIM:619636
5593	PRKG2	HP:0000470	Short neck	1/7	OMIM:615777
5593	PRKG2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5593	PRKG2	HP:0001763	Pes planus	1/2	OMIM:619638
5593	PRKG2	HP:0001763	Pes planus	1/7	OMIM:615777
5593	PRKG2	HP:0000431	Wide nasal bridge	2/3	OMIM:619636
5593	PRKG2	HP:0001840	Metatarsus adductus	-	OMIM:615777
5593	PRKG2	HP:0001852	Sandal gap	1/2	OMIM:619636
5593	PRKG2	HP:0000520	Proptosis	2/4	OMIM:131300
5593	PRKG2	HP:0000520	Proptosis	7/7	OMIM:615777
5593	PRKG2	HP:0001837	Broad toe	1/1	OMIM:619636
5593	PRKG2	HP:0001831	Short toe	1/1	OMIM:619636
5593	PRKG2	HP:0000592	Blue sclerae	2/7	OMIM:615777
5593	PRKG2	HP:0000592	Blue sclerae	1/3	OMIM:619638
5593	PRKG2	HP:0000574	Thick eyebrow	1/1	OMIM:619636
5593	PRKG2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5593	PRKG2	HP:0012514	Lower limb pain	4/4	OMIM:131300
5594	MAPK1	HP:0001182	Tapered finger	2/7	OMIM:619087
5594	MAPK1	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0002463	Language impairment	HP:0040281	ORPHA:261330
5594	MAPK1	HP:0009882	Short distal phalanx of finger	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5594	MAPK1	HP:0001293	Cranial nerve compression	-	OMIM:131300
5594	MAPK1	HP:0001290	Generalized hypotonia	4/7	OMIM:619087
5594	MAPK1	HP:0001250	Seizure	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0001252	Hypotonia	2/7	OMIM:615777
5594	MAPK1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:261330
5594	MAPK1	HP:0001249	Intellectual disability	6/7	OMIM:619087
5594	MAPK1	HP:0001249	Intellectual disability	5/7	OMIM:615777
5594	MAPK1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:261330
5594	MAPK1	HP:0001263	Global developmental delay	7/7	OMIM:619087
5594	MAPK1	HP:0001263	Global developmental delay	-	OMIM:615777
5594	MAPK1	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:261330
5594	MAPK1	HP:0002553	Highly arched eyebrow	1/7	OMIM:619087
5594	MAPK1	HP:0002515	Waddling gait	54/102	OMIM:131300
5594	MAPK1	HP:0000081	Duplicated collecting system	1/7	OMIM:619087
5594	MAPK1	HP:0025352	Typically de novo	-	OMIM:619087
5594	MAPK1	HP:0001377	Limited elbow extension	1/7	OMIM:619087
5594	MAPK1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0001382	Joint hypermobility	1/7	OMIM:619087
5594	MAPK1	HP:0001382	Joint hypermobility	-	OMIM:615777
5594	MAPK1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5594	MAPK1	HP:0001357	Plagiocephaly	1/7	OMIM:619087
5594	MAPK1	HP:0000028	Cryptorchidism	2/6	OMIM:619087
5594	MAPK1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5594	MAPK1	HP:0002664	Neoplasm	HP:0040282	ORPHA:261330
5594	MAPK1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5594	MAPK1	HP:0001324	Muscle weakness	40/96	OMIM:131300
5594	MAPK1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0002673	Coxa valga	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5594	MAPK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5594	MAPK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
5594	MAPK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5594	MAPK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619087
5594	MAPK1	HP:0002650	Scoliosis	12/14	OMIM:131300
5594	MAPK1	HP:0002650	Scoliosis	1/7	OMIM:619087
5594	MAPK1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5594	MAPK1	HP:0002619	Varicose veins	-	OMIM:153400
5594	MAPK1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5594	MAPK1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5594	MAPK1	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5594	MAPK1	HP:0012168	Head-banging	1/7	OMIM:619087
5594	MAPK1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0000175	Cleft palate	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0000175	Cleft palate	5/39	OMIM:153400
5594	MAPK1	HP:0000175	Cleft palate	2/7	OMIM:615777
5594	MAPK1	HP:0000154	Wide mouth	2/7	OMIM:619087
5594	MAPK1	HP:0002705	High, narrow palate	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0002020	Gastroesophageal reflux	1/7	OMIM:619087
5594	MAPK1	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0100559	Lower limb asymmetry	1/7	OMIM:619087
5594	MAPK1	HP:0003388	Easy fatigability	36/76	OMIM:131300
5594	MAPK1	HP:0009465	Ulnar deviation of finger	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5594	MAPK1	HP:0002197	Generalized-onset seizure	1/5	OMIM:619087
5594	MAPK1	HP:0002162	Low posterior hairline	4/7	OMIM:619087
5594	MAPK1	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
5594	MAPK1	HP:0002230	Generalized hirsutism	1/7	OMIM:619087
5594	MAPK1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0009743	Distichiasis	42/42	OMIM:153400
5594	MAPK1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0007018	Attention deficit hyperactivity disorder	3/7	OMIM:619087
5594	MAPK1	HP:0003510	Severe short stature	7/7	OMIM:615777
5594	MAPK1	HP:0002389	Cavum septum pellucidum	1/7	OMIM:619087
5594	MAPK1	HP:0001004	Lymphedema	1/7	OMIM:619087
5594	MAPK1	HP:0001004	Lymphedema	-	OMIM:153400
5594	MAPK1	HP:0002315	Headache	-	OMIM:131300
5594	MAPK1	HP:0004976	Knee dislocation	6/7	OMIM:615777
5594	MAPK1	HP:0001003	Multiple lentigines	1/7	OMIM:619087
5594	MAPK1	HP:0100658	Cellulitis	2/6	OMIM:153400
5594	MAPK1	HP:0010806	U-Shaped upper lip vermilion	1/7	OMIM:619087
5594	MAPK1	HP:0100625	Enlarged thorax	1/7	OMIM:619087
5594	MAPK1	HP:0009803	Short phalanx of finger	-	OMIM:615777
5594	MAPK1	HP:0009795	Branchial fistula	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0009763	Limb pain	63/92	OMIM:131300
5594	MAPK1	HP:0003621	Juvenile onset	-	OMIM:131300
5594	MAPK1	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5594	MAPK1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:261330
5594	MAPK1	HP:0004279	Short palm	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5594	MAPK1	HP:0000635	Blue irides	1/7	OMIM:619087
5594	MAPK1	HP:6001056	Out-toeing	-	OMIM:131300
5594	MAPK1	HP:0000651	Diplopia	-	OMIM:131300
5594	MAPK1	HP:0000613	Photophobia	10/49	OMIM:153400
5594	MAPK1	HP:0001956	Truncal obesity	2/7	OMIM:615777
5594	MAPK1	HP:0001903	Anemia	HP:0040283	OMIM:131300
5594	MAPK1	HP:0010049	Short metacarpal	-	OMIM:615777
5594	MAPK1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
5594	MAPK1	HP:0000678	Dental crowding	-	OMIM:615777
5594	MAPK1	HP:0000691	Microdontia	1/7	OMIM:619087
5594	MAPK1	HP:0000687	Widely spaced teeth	2/7	OMIM:619087
5594	MAPK1	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0000656	Ectropion	2/43	OMIM:153400
5594	MAPK1	HP:0000670	Carious teeth	-	OMIM:131300
5594	MAPK1	HP:0011304	Broad thumb	2/7	OMIM:615777
5594	MAPK1	HP:0000668	Hypodontia	-	OMIM:615777
5594	MAPK1	HP:0000664	Synophrys	-	OMIM:615777
5594	MAPK1	HP:0004322	Short stature	HP:0040281	ORPHA:261330
5594	MAPK1	HP:0004396	Poor appetite	-	OMIM:131300
5594	MAPK1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5594	MAPK1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5594	MAPK1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5594	MAPK1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
5594	MAPK1	HP:0003026	Short long bone	7/7	OMIM:615777
5594	MAPK1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5594	MAPK1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5594	MAPK1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5594	MAPK1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5594	MAPK1	HP:0100033	Tics	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0000739	Anxiety	1/7	OMIM:619087
5594	MAPK1	HP:0000750	Delayed speech and language development	6/7	OMIM:619087
5594	MAPK1	HP:0000750	Delayed speech and language development	-	OMIM:615777
5594	MAPK1	HP:0000716	Depression	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0000718	Aggressive behavior	2/7	OMIM:619087
5594	MAPK1	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0011461	Fetal onset	7/7	OMIM:615777
5594	MAPK1	HP:0000774	Narrow chest	2/7	OMIM:615777
5594	MAPK1	HP:0000926	Platyspondyly	1/7	OMIM:615777
5594	MAPK1	HP:0003180	Flat acetabular roof	-	OMIM:615777
5594	MAPK1	HP:0004482	Relative macrocephaly	-	OMIM:615777
5594	MAPK1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5594	MAPK1	HP:0012804	Corneal ulceration	-	OMIM:153400
5594	MAPK1	HP:0000823	Delayed puberty	-	OMIM:131300
5594	MAPK1	HP:0010296	Ankyloglossia	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0000894	Short clavicles	-	OMIM:615777
5594	MAPK1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5594	MAPK1	HP:0000998	Hypertrichosis	2/7	OMIM:619087
5594	MAPK1	HP:0010310	Chylothorax	1/6	OMIM:153400
5594	MAPK1	HP:0000978	Bruising susceptibility	1/7	OMIM:619087
5594	MAPK1	HP:0000958	Dry skin	2/7	OMIM:619087
5594	MAPK1	HP:0000957	Cafe-au-lait spot	1/7	OMIM:619087
5594	MAPK1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5594	MAPK1	HP:0011675	Arrhythmia	-	OMIM:153400
5594	MAPK1	HP:0000286	Epicanthus	1/7	OMIM:619087
5594	MAPK1	HP:0000286	Epicanthus	1/7	OMIM:615777
5594	MAPK1	HP:0000280	Coarse facial features	1/7	OMIM:619087
5594	MAPK1	HP:0000280	Coarse facial features	2/7	OMIM:615777
5594	MAPK1	HP:0000276	Long face	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0000272	Malar flattening	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0002827	Hip dislocation	3/7	OMIM:615777
5594	MAPK1	HP:0030084	Clinodactyly	1/7	OMIM:619087
5594	MAPK1	HP:0002808	Kyphosis	2/5	OMIM:153400
5594	MAPK1	HP:0000252	Microcephaly	HP:0040282	ORPHA:261330
5594	MAPK1	HP:0000252	Microcephaly	1/7	OMIM:619087
5594	MAPK1	HP:0000252	Microcephaly	-	OMIM:615777
5594	MAPK1	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:261330
5594	MAPK1	HP:0000218	High palate	1/7	OMIM:619087
5594	MAPK1	HP:0002857	Genu valgum	-	OMIM:131300
5594	MAPK1	HP:0001533	Slender build	-	OMIM:131300
5594	MAPK1	HP:0000204	Cleft upper lip	-	OMIM:153400
5594	MAPK1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:261330
5594	MAPK1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5594	MAPK1	HP:0001510	Growth delay	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0007807	Optic nerve compression	-	OMIM:131300
5594	MAPK1	HP:0012368	Flat face	7/7	OMIM:615777
5594	MAPK1	HP:0007874	Almond-shaped palpebral fissure	1/7	OMIM:619087
5594	MAPK1	HP:0001609	Hoarse voice	1/7	OMIM:619087
5594	MAPK1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5594	MAPK1	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0000363	Abnormal earlobe morphology	HP:0040282	ORPHA:261330
5594	MAPK1	HP:0000365	Hearing impairment	10/67	OMIM:131300
5594	MAPK1	HP:0000358	Posteriorly rotated ears	6/7	OMIM:619087
5594	MAPK1	HP:0000369	Low-set ears	3/7	OMIM:619087
5594	MAPK1	HP:0000341	Narrow forehead	2/7	OMIM:619087
5594	MAPK1	HP:0000343	Long philtrum	1/7	OMIM:619087
5594	MAPK1	HP:0000343	Long philtrum	1/7	OMIM:615777
5594	MAPK1	HP:0011001	Increased bone mineral density	-	OMIM:131300
5594	MAPK1	HP:0000348	High forehead	1/7	OMIM:619087
5594	MAPK1	HP:0000347	Micrognathia	2/5	OMIM:153400
5594	MAPK1	HP:0000347	Micrognathia	1/7	OMIM:619087
5594	MAPK1	HP:0000319	Smooth philtrum	HP:0040281	ORPHA:261330
5594	MAPK1	HP:0000316	Hypertelorism	5/7	OMIM:619087
5594	MAPK1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
5594	MAPK1	HP:0000311	Round face	2/7	OMIM:615777
5594	MAPK1	HP:0001660	Truncus arteriosus	HP:0040282	ORPHA:261330
5594	MAPK1	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0001653	Mitral regurgitation	1/7	OMIM:619087
5594	MAPK1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
5594	MAPK1	HP:0001622	Premature birth	HP:0040281	ORPHA:261330
5594	MAPK1	HP:0002970	Genu varum	-	OMIM:615777
5594	MAPK1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
5594	MAPK1	HP:0000307	Pointed chin	HP:0040282	ORPHA:261330
5594	MAPK1	HP:0000307	Pointed chin	1/7	OMIM:619087
5594	MAPK1	HP:0002967	Cubitus valgus	1/7	OMIM:619087
5594	MAPK1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0001631	Atrial septal defect	2/7	OMIM:619087
5594	MAPK1	HP:0000303	Mandibular prognathia	-	OMIM:131300
5594	MAPK1	HP:0001634	Mitral valve prolapse	2/7	OMIM:619087
5594	MAPK1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0000403	Recurrent otitis media	2/7	OMIM:619087
5594	MAPK1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5594	MAPK1	HP:0012469	Infantile spasms	1/7	OMIM:619087
5594	MAPK1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
5594	MAPK1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
5594	MAPK1	HP:0000494	Downslanted palpebral fissures	3/7	OMIM:619087
5594	MAPK1	HP:0000490	Deeply set eye	HP:0040282	ORPHA:261330
5594	MAPK1	HP:0000463	Anteverted nares	1/7	OMIM:619087
5594	MAPK1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
5594	MAPK1	HP:0000470	Short neck	4/7	OMIM:619087
5594	MAPK1	HP:0000470	Short neck	1/7	OMIM:615777
5594	MAPK1	HP:0000465	Webbed neck	4/7	OMIM:619087
5594	MAPK1	HP:0000465	Webbed neck	6/43	OMIM:153400
5594	MAPK1	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5594	MAPK1	HP:0001763	Pes planus	HP:0040282	ORPHA:261330
5594	MAPK1	HP:0001763	Pes planus	3/7	OMIM:619087
5594	MAPK1	HP:0001763	Pes planus	1/7	OMIM:615777
5594	MAPK1	HP:0000453	Choanal atresia	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0001776	Bilateral talipes equinovarus	1/7	OMIM:619087
5594	MAPK1	HP:0000431	Wide nasal bridge	2/7	OMIM:619087
5594	MAPK1	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:261330
5594	MAPK1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0005487	Prominent metopic ridge	2/7	OMIM:619087
5594	MAPK1	HP:0001845	Overlapping toe	1/7	OMIM:619087
5594	MAPK1	HP:0001840	Metatarsus adductus	1/7	OMIM:619087
5594	MAPK1	HP:0001840	Metatarsus adductus	-	OMIM:615777
5594	MAPK1	HP:0001852	Sandal gap	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0000520	Proptosis	2/4	OMIM:131300
5594	MAPK1	HP:0000520	Proptosis	7/7	OMIM:615777
5594	MAPK1	HP:0000509	Conjunctivitis	-	OMIM:153400
5594	MAPK1	HP:0000508	Ptosis	2/39	OMIM:153400
5594	MAPK1	HP:0000508	Ptosis	6/7	OMIM:619087
5594	MAPK1	HP:0001802	Absent toenail	HP:0040282	ORPHA:261330
5594	MAPK1	HP:0001817	Absent fingernail	HP:0040282	ORPHA:261330
5594	MAPK1	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:261330
5594	MAPK1	HP:0000592	Blue sclerae	2/7	OMIM:615777
5594	MAPK1	HP:0011229	Broad eyebrow	1/7	OMIM:619087
5594	MAPK1	HP:0000568	Microphthalmia	1/6	OMIM:153400
5594	MAPK1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5594	MAPK1	HP:0012514	Lower limb pain	4/4	OMIM:131300
5602	MAPK10	HP:0007270	Atypical absence seizure	HP:0040282	ORPHA:2382
5602	MAPK10	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2382
5602	MAPK10	HP:0001268	Mental deterioration	HP:0040282	ORPHA:2382
5602	MAPK10	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2382
5602	MAPK10	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:2382
5602	MAPK10	HP:0002527	Falls	HP:0040282	ORPHA:2382
5602	MAPK10	HP:0012075	Personality disorder	HP:0040282	ORPHA:2382
5602	MAPK10	HP:0001336	Myoclonus	HP:0040282	ORPHA:2382
5602	MAPK10	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:2382
5602	MAPK10	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:2382
5602	MAPK10	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:2382
5602	MAPK10	HP:0002376	Developmental regression	HP:0040283	ORPHA:2382
5602	MAPK10	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2382
5602	MAPK10	HP:0002321	Vertigo	HP:0040283	ORPHA:2382
5602	MAPK10	HP:0010819	Atonic seizure	HP:0040282	ORPHA:2382
5602	MAPK10	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:2382
5602	MAPK10	HP:0000752	Hyperactivity	HP:0040282	ORPHA:2382
5602	MAPK10	HP:0000737	Irritability	HP:0040282	ORPHA:2382
5602	MAPK10	HP:0000741	Apathy	HP:0040283	ORPHA:2382
5602	MAPK10	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:2382
5602	MAPK10	HP:0000729	Autistic behavior	HP:0040282	ORPHA:2382
5602	MAPK10	HP:0000709	Psychosis	HP:0040283	ORPHA:2382
5602	MAPK10	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2382
5602	MAPK10	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:2382
5602	MAPK10	HP:0011195	EEG with focal sharp slow waves	HP:0040281	ORPHA:2382
5604	MAP2K1	HP:0001156	Brachydactyly	-	OMIM:163950
5604	MAP2K1	HP:0009891	Underdeveloped supraorbital ridges	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0003745	Sporadic	-	OMIM:155950
5604	MAP2K1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5604	MAP2K1	HP:0001293	Cranial nerve compression	-	OMIM:131300
5604	MAP2K1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:389
5604	MAP2K1	HP:0001250	Seizure	1/3	OMIM:615279
5604	MAP2K1	HP:0001252	Hypotonia	3/3	OMIM:615279
5604	MAP2K1	HP:0001252	Hypotonia	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0001252	Hypotonia	2/7	OMIM:615777
5604	MAP2K1	HP:0001251	Ataxia	HP:0040283	ORPHA:389
5604	MAP2K1	HP:0001249	Intellectual disability	-	OMIM:615279
5604	MAP2K1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0001249	Intellectual disability	5/7	OMIM:615777
5604	MAP2K1	HP:0001249	Intellectual disability	4/17	OMIM:163950
5604	MAP2K1	HP:0001260	Dysarthria	HP:0040283	ORPHA:389
5604	MAP2K1	HP:0001260	Dysarthria	HP:0040283	ORPHA:1340
5604	MAP2K1	HP:0001263	Global developmental delay	-	OMIM:615279
5604	MAP2K1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0001263	Global developmental delay	-	OMIM:615777
5604	MAP2K1	HP:0007440	Generalized hyperpigmentation	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0007392	Excessive wrinkled skin	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0002515	Waddling gait	54/102	OMIM:131300
5604	MAP2K1	HP:0001399	Hepatic failure	HP:0040284	ORPHA:389
5604	MAP2K1	HP:0001382	Joint hypermobility	-	OMIM:615777
5604	MAP2K1	HP:0000047	Hypospadias	1/8	OMIM:163950
5604	MAP2K1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5604	MAP2K1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000028	Cryptorchidism	27/32	OMIM:163950
5604	MAP2K1	HP:0007565	Multiple cafe-au-lait spots	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5604	MAP2K1	HP:0008897	Postnatal growth retardation	-	OMIM:163950
5604	MAP2K1	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0008872	Feeding difficulties in infancy	35/56	OMIM:163950
5604	MAP2K1	HP:0006191	Deep palmar crease	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5604	MAP2K1	HP:0001324	Muscle weakness	40/96	OMIM:131300
5604	MAP2K1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5604	MAP2K1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5604	MAP2K1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615279
5604	MAP2K1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
5604	MAP2K1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5604	MAP2K1	HP:0000006	Autosomal dominant inheritance	-	OMIM:163950
5604	MAP2K1	HP:0002653	Bone pain	HP:0040281	ORPHA:389
5604	MAP2K1	HP:0002650	Scoliosis	2/3	OMIM:615279
5604	MAP2K1	HP:0002650	Scoliosis	12/14	OMIM:131300
5604	MAP2K1	HP:0002650	Scoliosis	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5604	MAP2K1	HP:0002619	Varicose veins	-	OMIM:153400
5604	MAP2K1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5604	MAP2K1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5604	MAP2K1	HP:6000817	Melorheostosis	-	OMIM:155950
5604	MAP2K1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5604	MAP2K1	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:1340
5604	MAP2K1	HP:0000175	Cleft palate	5/39	OMIM:153400
5604	MAP2K1	HP:0000175	Cleft palate	2/7	OMIM:615777
5604	MAP2K1	HP:0000175	Cleft palate	1/18	OMIM:163950
5604	MAP2K1	HP:0000135	Hypogonadism	HP:0040283	OMIM:163950
5604	MAP2K1	HP:0002797	Osteolysis	HP:0040281	ORPHA:389
5604	MAP2K1	HP:0000154	Wide mouth	-	OMIM:615279
5604	MAP2K1	HP:0000155	Oral ulcer	HP:0040283	ORPHA:389
5604	MAP2K1	HP:0002705	High, narrow palate	-	OMIM:163950
5604	MAP2K1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1340
5604	MAP2K1	HP:0002751	Kyphoscoliosis	-	OMIM:163950
5604	MAP2K1	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:389
5604	MAP2K1	HP:0030991	Sclerosing cholangitis	HP:0040284	ORPHA:389
5604	MAP2K1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0002093	Respiratory insufficiency	HP:0040284	ORPHA:389
5604	MAP2K1	HP:0002046	Heat intolerance	3/3	OMIM:615279
5604	MAP2K1	HP:0003388	Easy fatigability	36/76	OMIM:131300
5604	MAP2K1	HP:0009466	Radial deviation of finger	-	OMIM:163950
5604	MAP2K1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5604	MAP2K1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:1340
5604	MAP2K1	HP:0002108	Spontaneous pneumothorax	HP:0040283	ORPHA:389
5604	MAP2K1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0002162	Low posterior hairline	86/138	OMIM:163950
5604	MAP2K1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:389
5604	MAP2K1	HP:0002224	Woolly hair	9/107	OMIM:163950
5604	MAP2K1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
5604	MAP2K1	HP:0200102	Sparse or absent eyelashes	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0002217	Slow-growing hair	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0004859	Amegakaryocytic thrombocytopenia	-	OMIM:163950
5604	MAP2K1	HP:0002212	Curly hair	3/3	OMIM:615279
5604	MAP2K1	HP:0002213	Fine hair	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0100769	Synovitis	-	OMIM:163950
5604	MAP2K1	HP:0009743	Distichiasis	42/42	OMIM:153400
5604	MAP2K1	HP:0100774	Hyperostosis	-	OMIM:155950
5604	MAP2K1	HP:0002299	Brittle hair	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0008357	Reduced factor XIII activity	-	OMIM:163950
5604	MAP2K1	HP:0003510	Severe short stature	7/7	OMIM:615777
5604	MAP2K1	HP:0004841	Reduced factor XII activity	-	OMIM:163950
5604	MAP2K1	HP:0008391	Dystrophic fingernails	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0001048	Cavernous hemangioma	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0003676	Progressive	-	OMIM:155950
5604	MAP2K1	HP:0001004	Lymphedema	HP:0040283	ORPHA:1340
5604	MAP2K1	HP:0001004	Lymphedema	-	OMIM:153400
5604	MAP2K1	HP:0001004	Lymphedema	-	OMIM:163950
5604	MAP2K1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0002315	Headache	-	OMIM:131300
5604	MAP2K1	HP:0004976	Knee dislocation	6/7	OMIM:615777
5604	MAP2K1	HP:0001003	Multiple lentigines	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0100658	Cellulitis	2/6	OMIM:153400
5604	MAP2K1	HP:0009803	Short phalanx of finger	-	OMIM:615777
5604	MAP2K1	HP:0032152	Keratosis pilaris	-	OMIM:615279
5604	MAP2K1	HP:0100697	Neurofibrosarcoma	-	OMIM:163950
5604	MAP2K1	HP:0009763	Limb pain	63/92	OMIM:131300
5604	MAP2K1	HP:0003621	Juvenile onset	-	OMIM:131300
5604	MAP2K1	HP:0034769	Pulmonary Langerhans cell histiocytosis	HP:0040283	ORPHA:389
5604	MAP2K1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5604	MAP2K1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5604	MAP2K1	HP:0000639	Nystagmus	-	OMIM:615279
5604	MAP2K1	HP:0000639	Nystagmus	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000637	Long palpebral fissure	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:6001056	Out-toeing	-	OMIM:131300
5604	MAP2K1	HP:0000651	Diplopia	-	OMIM:131300
5604	MAP2K1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1340
5604	MAP2K1	HP:0000613	Photophobia	10/49	OMIM:153400
5604	MAP2K1	HP:0001945	Fever	HP:0040282	ORPHA:389
5604	MAP2K1	HP:0001956	Truncal obesity	2/7	OMIM:615777
5604	MAP2K1	HP:0001903	Anemia	HP:0040283	OMIM:131300
5604	MAP2K1	HP:0010049	Short metacarpal	-	OMIM:615777
5604	MAP2K1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
5604	MAP2K1	HP:0000678	Dental crowding	-	OMIM:615777
5604	MAP2K1	HP:0000689	Dental malocclusion	-	OMIM:163950
5604	MAP2K1	HP:0000656	Ectropion	2/43	OMIM:153400
5604	MAP2K1	HP:0000670	Carious teeth	-	OMIM:131300
5604	MAP2K1	HP:0011304	Broad thumb	2/7	OMIM:615777
5604	MAP2K1	HP:0000668	Hypodontia	-	OMIM:615777
5604	MAP2K1	HP:0000664	Synophrys	-	OMIM:615777
5604	MAP2K1	HP:0004322	Short stature	-	OMIM:615279
5604	MAP2K1	HP:0004322	Short stature	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0004322	Short stature	43/107	OMIM:163950
5604	MAP2K1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:389
5604	MAP2K1	HP:0004396	Poor appetite	-	OMIM:131300
5604	MAP2K1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5604	MAP2K1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5604	MAP2K1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5604	MAP2K1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
5604	MAP2K1	HP:0003026	Short long bone	7/7	OMIM:615777
5604	MAP2K1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5604	MAP2K1	HP:0004349	Reduced bone mineral density	1/3	OMIM:615279
5604	MAP2K1	HP:0012735	Cough	HP:0040282	ORPHA:389
5604	MAP2K1	HP:0000767	Pectus excavatum	3/3	OMIM:615279
5604	MAP2K1	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5604	MAP2K1	HP:0000766	Abnormal sternum morphology	3/18	OMIM:163950
5604	MAP2K1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5604	MAP2K1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5604	MAP2K1	HP:0000750	Delayed speech and language development	-	OMIM:615777
5604	MAP2K1	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040283	ORPHA:1340
5604	MAP2K1	HP:0011461	Fetal onset	7/7	OMIM:615777
5604	MAP2K1	HP:0000774	Narrow chest	2/7	OMIM:615777
5604	MAP2K1	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0003196	Short nose	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000917	Superior pectus carinatum	-	OMIM:163950
5604	MAP2K1	HP:0000914	Shield chest	-	OMIM:163950
5604	MAP2K1	HP:0000915	Pectus excavatum of inferior sternum	-	OMIM:163950
5604	MAP2K1	HP:0000926	Platyspondyly	1/7	OMIM:615777
5604	MAP2K1	HP:0003180	Flat acetabular roof	-	OMIM:615777
5604	MAP2K1	HP:0004482	Relative macrocephaly	-	OMIM:615777
5604	MAP2K1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5604	MAP2K1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:389
5604	MAP2K1	HP:0012804	Corneal ulceration	-	OMIM:153400
5604	MAP2K1	HP:0000823	Delayed puberty	-	OMIM:131300
5604	MAP2K1	HP:0040071	Abnormal morphology of ulna	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000894	Short clavicles	-	OMIM:615777
5604	MAP2K1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5604	MAP2K1	HP:0003251	Male infertility	-	OMIM:163950
5604	MAP2K1	HP:0003249	Genital ulcers	HP:0040283	ORPHA:389
5604	MAP2K1	HP:0010310	Chylothorax	1/6	OMIM:153400
5604	MAP2K1	HP:0010310	Chylothorax	1/18	OMIM:163950
5604	MAP2K1	HP:0000975	Hyperhidrosis	3/3	OMIM:615279
5604	MAP2K1	HP:0000978	Bruising susceptibility	32/56	OMIM:163950
5604	MAP2K1	HP:0000974	Hyperextensible skin	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0034323	Reduced circulating growth hormone concentration	HP:0040283	ORPHA:389
5604	MAP2K1	HP:0000988	Skin rash	HP:0040282	ORPHA:389
5604	MAP2K1	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0000958	Dry skin	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0000958	Dry skin	5/107	OMIM:163950
5604	MAP2K1	HP:0000957	Cafe-au-lait spot	10/107	OMIM:163950
5604	MAP2K1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5604	MAP2K1	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:389
5604	MAP2K1	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000962	Hyperkeratosis	3/3	OMIM:615279
5604	MAP2K1	HP:0008070	Sparse hair	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0008064	Ichthyosis	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0011675	Arrhythmia	-	OMIM:153400
5604	MAP2K1	HP:0000286	Epicanthus	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000286	Epicanthus	1/7	OMIM:615777
5604	MAP2K1	HP:0000286	Epicanthus	15/28	OMIM:163950
5604	MAP2K1	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0000280	Coarse facial features	2/7	OMIM:615777
5604	MAP2K1	HP:0000293	Full cheeks	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000276	Long face	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0002827	Hip dislocation	3/7	OMIM:615777
5604	MAP2K1	HP:0030084	Clinodactyly	-	OMIM:163950
5604	MAP2K1	HP:0002808	Kyphosis	2/5	OMIM:153400
5604	MAP2K1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:1340
5604	MAP2K1	HP:0000252	Microcephaly	-	OMIM:615777
5604	MAP2K1	HP:0001582	Redundant skin	HP:0040283	ORPHA:1340
5604	MAP2K1	HP:0012209	Juvenile myelomonocytic leukemia	2/18	OMIM:163950
5604	MAP2K1	HP:0000218	High palate	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000218	High palate	-	OMIM:163950
5604	MAP2K1	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0001531	Failure to thrive in infancy	-	OMIM:163950
5604	MAP2K1	HP:0002857	Genu valgum	-	OMIM:131300
5604	MAP2K1	HP:0002857	Genu valgum	HP:0040283	ORPHA:1340
5604	MAP2K1	HP:0001533	Slender build	-	OMIM:131300
5604	MAP2K1	HP:0000204	Cleft upper lip	-	OMIM:153400
5604	MAP2K1	HP:0001508	Failure to thrive	-	OMIM:615279
5604	MAP2K1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5604	MAP2K1	HP:0001510	Growth delay	HP:0040283	ORPHA:389
5604	MAP2K1	HP:0007807	Optic nerve compression	-	OMIM:131300
5604	MAP2K1	HP:0012368	Flat face	7/7	OMIM:615777
5604	MAP2K1	HP:0000391	Thickened helices	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5604	MAP2K1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:389
5604	MAP2K1	HP:0000365	Hearing impairment	10/67	OMIM:131300
5604	MAP2K1	HP:0000365	Hearing impairment	2/17	OMIM:163950
5604	MAP2K1	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:1340
5604	MAP2K1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000369	Low-set ears	96/137	OMIM:163950
5604	MAP2K1	HP:0000343	Long philtrum	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000343	Long philtrum	1/7	OMIM:615777
5604	MAP2K1	HP:0011001	Increased bone mineral density	-	OMIM:155950
5604	MAP2K1	HP:0011001	Increased bone mineral density	-	OMIM:131300
5604	MAP2K1	HP:0000337	Broad forehead	34/107	OMIM:163950
5604	MAP2K1	HP:0001680	Coarctation of aorta	-	OMIM:163950
5604	MAP2K1	HP:0000348	High forehead	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000347	Micrognathia	2/5	OMIM:153400
5604	MAP2K1	HP:0000347	Micrognathia	-	OMIM:163950
5604	MAP2K1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000316	Hypertelorism	68/135	OMIM:163950
5604	MAP2K1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
5604	MAP2K1	HP:0001643	Patent ductus arteriosus	-	OMIM:163950
5604	MAP2K1	HP:0000311	Round face	2/7	OMIM:615777
5604	MAP2K1	HP:0001642	Pulmonic stenosis	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0001642	Pulmonic stenosis	-	OMIM:615279
5604	MAP2K1	HP:0001642	Pulmonic stenosis	92/181	OMIM:163950
5604	MAP2K1	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0000325	Triangular face	-	OMIM:163950
5604	MAP2K1	HP:0001629	Ventricular septal defect	-	OMIM:615279
5604	MAP2K1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
5604	MAP2K1	HP:0001629	Ventricular septal defect	5/107	OMIM:163950
5604	MAP2K1	HP:0001622	Premature birth	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0002970	Genu varum	-	OMIM:615777
5604	MAP2K1	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:615279
5604	MAP2K1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:1340
5604	MAP2K1	HP:0001639	Hypertrophic cardiomyopathy	13/181	OMIM:163950
5604	MAP2K1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
5604	MAP2K1	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:1340
5604	MAP2K1	HP:0002967	Cubitus valgus	13/107	OMIM:163950
5604	MAP2K1	HP:0001631	Atrial septal defect	-	OMIM:615279
5604	MAP2K1	HP:0001631	Atrial septal defect	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0001631	Atrial septal defect	70/181	OMIM:163950
5604	MAP2K1	HP:0000303	Mandibular prognathia	-	OMIM:131300
5604	MAP2K1	HP:0006610	Wide intermamillary distance	37/107	OMIM:163950
5604	MAP2K1	HP:0000499	Abnormal eyelash morphology	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0000407	Sensorineural hearing impairment	-	OMIM:163950
5604	MAP2K1	HP:0000400	Macrotia	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5604	MAP2K1	HP:0000486	Strabismus	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
5604	MAP2K1	HP:0000476	Cystic hygroma	-	OMIM:163950
5604	MAP2K1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
5604	MAP2K1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000494	Downslanted palpebral fissures	19/28	OMIM:163950
5604	MAP2K1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
5604	MAP2K1	HP:0000470	Short neck	-	OMIM:615279
5604	MAP2K1	HP:0000470	Short neck	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000470	Short neck	1/7	OMIM:615777
5604	MAP2K1	HP:0000470	Short neck	15/29	OMIM:163950
5604	MAP2K1	HP:0000465	Webbed neck	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000465	Webbed neck	-	OMIM:615279
5604	MAP2K1	HP:0000465	Webbed neck	6/43	OMIM:153400
5604	MAP2K1	HP:0000465	Webbed neck	65/107	OMIM:163950
5604	MAP2K1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5604	MAP2K1	HP:0001763	Pes planus	1/7	OMIM:615777
5604	MAP2K1	HP:0001744	Splenomegaly	HP:0040282	ORPHA:389
5604	MAP2K1	HP:0001840	Metatarsus adductus	-	OMIM:615777
5604	MAP2K1	HP:0000520	Proptosis	2/4	OMIM:131300
5604	MAP2K1	HP:0000520	Proptosis	7/7	OMIM:615777
5604	MAP2K1	HP:0001824	Weight loss	HP:0040283	ORPHA:389
5604	MAP2K1	HP:0000509	Conjunctivitis	-	OMIM:153400
5604	MAP2K1	HP:0000508	Ptosis	2/39	OMIM:153400
5604	MAP2K1	HP:0000508	Ptosis	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000508	Ptosis	77/136	OMIM:163950
5604	MAP2K1	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:1340
5604	MAP2K1	HP:0000592	Blue sclerae	2/7	OMIM:615777
5604	MAP2K1	HP:0001892	Abnormal bleeding	3/18	OMIM:163950
5604	MAP2K1	HP:0000568	Microphthalmia	1/6	OMIM:153400
5604	MAP2K1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5604	MAP2K1	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:389
5604	MAP2K1	HP:0012514	Lower limb pain	4/4	OMIM:131300
5604	MAP2K1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:389
5604	MAP2K1	HP:0000545	Myopia	HP:0040282	ORPHA:1340
5604	MAP2K1	HP:0000545	Myopia	-	OMIM:163950
5605	MAP2K2	HP:0009891	Underdeveloped supraorbital ridges	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5605	MAP2K2	HP:0001293	Cranial nerve compression	-	OMIM:131300
5605	MAP2K2	HP:0001252	Hypotonia	1/1	OMIM:615280
5605	MAP2K2	HP:0001252	Hypotonia	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0001252	Hypotonia	2/7	OMIM:615777
5605	MAP2K2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0001249	Intellectual disability	5/7	OMIM:615777
5605	MAP2K2	HP:0001260	Dysarthria	HP:0040283	ORPHA:1340
5605	MAP2K2	HP:0001263	Global developmental delay	3/4	OMIM:615280
5605	MAP2K2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0001263	Global developmental delay	-	OMIM:615777
5605	MAP2K2	HP:0007440	Generalized hyperpigmentation	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0007392	Excessive wrinkled skin	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0002515	Waddling gait	54/102	OMIM:131300
5605	MAP2K2	HP:0001382	Joint hypermobility	1/3	OMIM:615280
5605	MAP2K2	HP:0001382	Joint hypermobility	-	OMIM:615777
5605	MAP2K2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5605	MAP2K2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:638
5605	MAP2K2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0007565	Multiple cafe-au-lait spots	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0007565	Multiple cafe-au-lait spots	HP:0040281	ORPHA:638
5605	MAP2K2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5605	MAP2K2	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0006191	Deep palmar crease	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0033725	Thin corpus callosum	1/1	OMIM:615280
5605	MAP2K2	HP:0001328	Specific learning disability	HP:0040281	ORPHA:638
5605	MAP2K2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5605	MAP2K2	HP:0001324	Muscle weakness	40/96	OMIM:131300
5605	MAP2K2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5605	MAP2K2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5605	MAP2K2	HP:0000006	Autosomal dominant inheritance	-	OMIM:615280
5605	MAP2K2	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
5605	MAP2K2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5605	MAP2K2	HP:0002650	Scoliosis	1/1	OMIM:615280
5605	MAP2K2	HP:0002650	Scoliosis	12/14	OMIM:131300
5605	MAP2K2	HP:0002650	Scoliosis	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:615280
5605	MAP2K2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5605	MAP2K2	HP:0002619	Varicose veins	-	OMIM:153400
5605	MAP2K2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5605	MAP2K2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5605	MAP2K2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5605	MAP2K2	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:1340
5605	MAP2K2	HP:0000175	Cleft palate	5/39	OMIM:153400
5605	MAP2K2	HP:0000175	Cleft palate	2/7	OMIM:615777
5605	MAP2K2	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1340
5605	MAP2K2	HP:0002015	Dysphagia	HP:0040282	ORPHA:638
5605	MAP2K2	HP:0002007	Frontal bossing	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0002046	Heat intolerance	1/1	OMIM:615280
5605	MAP2K2	HP:0003388	Easy fatigability	36/76	OMIM:131300
5605	MAP2K2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5605	MAP2K2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:1340
5605	MAP2K2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0003593	Infantile onset	2/3	OMIM:615280
5605	MAP2K2	HP:0002223	Absent eyebrow	12/13	OMIM:615280
5605	MAP2K2	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
5605	MAP2K2	HP:0200102	Sparse or absent eyelashes	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0002217	Slow-growing hair	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0002212	Curly hair	14/14	OMIM:615280
5605	MAP2K2	HP:0002213	Fine hair	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:638
5605	MAP2K2	HP:0009743	Distichiasis	42/42	OMIM:153400
5605	MAP2K2	HP:0002299	Brittle hair	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0002293	Alopecia of scalp	1/3	OMIM:615280
5605	MAP2K2	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0003510	Severe short stature	7/7	OMIM:615777
5605	MAP2K2	HP:0008391	Dystrophic fingernails	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0001048	Cavernous hemangioma	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0001028	Hemangioma	2/9	OMIM:615280
5605	MAP2K2	HP:0001004	Lymphedema	HP:0040283	ORPHA:1340
5605	MAP2K2	HP:0001004	Lymphedema	-	OMIM:153400
5605	MAP2K2	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0002315	Headache	-	OMIM:131300
5605	MAP2K2	HP:0004976	Knee dislocation	6/7	OMIM:615777
5605	MAP2K2	HP:0001003	Multiple lentigines	3/3	OMIM:615280
5605	MAP2K2	HP:0001003	Multiple lentigines	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0100658	Cellulitis	2/6	OMIM:153400
5605	MAP2K2	HP:0009803	Short phalanx of finger	-	OMIM:615777
5605	MAP2K2	HP:0032152	Keratosis pilaris	5/9	OMIM:615280
5605	MAP2K2	HP:0009763	Limb pain	63/92	OMIM:131300
5605	MAP2K2	HP:0003621	Juvenile onset	-	OMIM:131300
5605	MAP2K2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5605	MAP2K2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5605	MAP2K2	HP:0000639	Nystagmus	1/1	OMIM:615280
5605	MAP2K2	HP:0000639	Nystagmus	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0000637	Long palpebral fissure	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:6001056	Out-toeing	-	OMIM:131300
5605	MAP2K2	HP:0000651	Diplopia	-	OMIM:131300
5605	MAP2K2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1340
5605	MAP2K2	HP:0000613	Photophobia	10/49	OMIM:153400
5605	MAP2K2	HP:0001956	Truncal obesity	2/7	OMIM:615777
5605	MAP2K2	HP:0000609	Optic nerve hypoplasia	1/1	OMIM:615280
5605	MAP2K2	HP:0001903	Anemia	HP:0040283	OMIM:131300
5605	MAP2K2	HP:0010049	Short metacarpal	-	OMIM:615777
5605	MAP2K2	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
5605	MAP2K2	HP:0009023	Abdominal wall muscle weakness	HP:0040281	ORPHA:638
5605	MAP2K2	HP:0000678	Dental crowding	-	OMIM:615777
5605	MAP2K2	HP:0000656	Ectropion	2/43	OMIM:153400
5605	MAP2K2	HP:0000653	Sparse eyelashes	1/3	OMIM:615280
5605	MAP2K2	HP:0000670	Carious teeth	-	OMIM:131300
5605	MAP2K2	HP:0011304	Broad thumb	2/7	OMIM:615777
5605	MAP2K2	HP:0000668	Hypodontia	-	OMIM:615777
5605	MAP2K2	HP:0000664	Synophrys	-	OMIM:615777
5605	MAP2K2	HP:0004322	Short stature	5/10	OMIM:615280
5605	MAP2K2	HP:0004322	Short stature	HP:0040281	ORPHA:638
5605	MAP2K2	HP:0004322	Short stature	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0004396	Poor appetite	-	OMIM:131300
5605	MAP2K2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5605	MAP2K2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5605	MAP2K2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5605	MAP2K2	HP:0003011	Abnormality of the musculature	-	OMIM:153400
5605	MAP2K2	HP:0003010	Prolonged bleeding time	HP:0040282	ORPHA:638
5605	MAP2K2	HP:0003026	Short long bone	7/7	OMIM:615777
5605	MAP2K2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5605	MAP2K2	HP:0000767	Pectus excavatum	1/9	OMIM:615280
5605	MAP2K2	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5605	MAP2K2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5605	MAP2K2	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:638
5605	MAP2K2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5605	MAP2K2	HP:0000750	Delayed speech and language development	-	OMIM:615777
5605	MAP2K2	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040283	ORPHA:1340
5605	MAP2K2	HP:0011463	Childhood onset	1/3	OMIM:615280
5605	MAP2K2	HP:0011461	Fetal onset	7/7	OMIM:615777
5605	MAP2K2	HP:0000774	Narrow chest	2/7	OMIM:615777
5605	MAP2K2	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0003196	Short nose	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0000926	Platyspondyly	1/7	OMIM:615777
5605	MAP2K2	HP:0003180	Flat acetabular roof	-	OMIM:615777
5605	MAP2K2	HP:0004482	Relative macrocephaly	-	OMIM:615777
5605	MAP2K2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5605	MAP2K2	HP:0012804	Corneal ulceration	-	OMIM:153400
5605	MAP2K2	HP:0000824	Decreased response to growth hormone stimulation test	1/1	OMIM:615280
5605	MAP2K2	HP:0000823	Delayed puberty	-	OMIM:131300
5605	MAP2K2	HP:0040071	Abnormal morphology of ulna	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0000894	Short clavicles	-	OMIM:615777
5605	MAP2K2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5605	MAP2K2	HP:0010310	Chylothorax	1/6	OMIM:153400
5605	MAP2K2	HP:0000975	Hyperhidrosis	1/1	OMIM:615280
5605	MAP2K2	HP:0000972	Palmoplantar hyperkeratosis	3/3	OMIM:615280
5605	MAP2K2	HP:0000974	Hyperextensible skin	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0000974	Hyperextensible skin	2/3	OMIM:615280
5605	MAP2K2	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0000958	Dry skin	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0000957	Cafe-au-lait spot	3/9	OMIM:615280
5605	MAP2K2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5605	MAP2K2	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0008070	Sparse hair	11/11	OMIM:615280
5605	MAP2K2	HP:0008070	Sparse hair	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0008064	Ichthyosis	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0011675	Arrhythmia	-	OMIM:153400
5605	MAP2K2	HP:0000286	Epicanthus	2/2	OMIM:615280
5605	MAP2K2	HP:0000286	Epicanthus	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0000286	Epicanthus	1/7	OMIM:615777
5605	MAP2K2	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0000280	Coarse facial features	2/7	OMIM:615777
5605	MAP2K2	HP:0000293	Full cheeks	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0000256	Macrocephaly	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0000275	Narrow face	2/2	OMIM:615280
5605	MAP2K2	HP:0000276	Long face	2/2	OMIM:615280
5605	MAP2K2	HP:0000276	Long face	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:638
5605	MAP2K2	HP:0005144	Ventricular septal hypertrophy	1/1	OMIM:615280
5605	MAP2K2	HP:0002827	Hip dislocation	3/7	OMIM:615777
5605	MAP2K2	HP:0002808	Kyphosis	2/5	OMIM:153400
5605	MAP2K2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:1340
5605	MAP2K2	HP:0000252	Microcephaly	-	OMIM:615777
5605	MAP2K2	HP:0001582	Redundant skin	HP:0040283	ORPHA:1340
5605	MAP2K2	HP:0000218	High palate	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0001561	Polyhydramnios	2/3	OMIM:615280
5605	MAP2K2	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0002857	Genu valgum	-	OMIM:131300
5605	MAP2K2	HP:0002857	Genu valgum	HP:0040283	ORPHA:1340
5605	MAP2K2	HP:0001533	Slender build	-	OMIM:131300
5605	MAP2K2	HP:0000204	Cleft upper lip	-	OMIM:153400
5605	MAP2K2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5605	MAP2K2	HP:0007807	Optic nerve compression	-	OMIM:131300
5605	MAP2K2	HP:0011039	Abnormal helix morphology	HP:0040281	ORPHA:638
5605	MAP2K2	HP:0012368	Flat face	7/7	OMIM:615777
5605	MAP2K2	HP:0000391	Thickened helices	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5605	MAP2K2	HP:0000365	Hearing impairment	10/67	OMIM:131300
5605	MAP2K2	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:1340
5605	MAP2K2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:638
5605	MAP2K2	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0000341	Narrow forehead	-	OMIM:615280
5605	MAP2K2	HP:0000343	Long philtrum	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0000343	Long philtrum	1/7	OMIM:615777
5605	MAP2K2	HP:0011001	Increased bone mineral density	-	OMIM:131300
5605	MAP2K2	HP:0000336	Prominent supraorbital ridges	2/2	OMIM:615280
5605	MAP2K2	HP:0000348	High forehead	-	OMIM:615280
5605	MAP2K2	HP:0000348	High forehead	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0000347	Micrognathia	2/5	OMIM:153400
5605	MAP2K2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:638
5605	MAP2K2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0001646	Abnormal aortic valve morphology	1/1	OMIM:615280
5605	MAP2K2	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
5605	MAP2K2	HP:0000311	Round face	2/7	OMIM:615777
5605	MAP2K2	HP:0001642	Pulmonic stenosis	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0001642	Pulmonic stenosis	6/14	OMIM:615280
5605	MAP2K2	HP:0001642	Pulmonic stenosis	HP:0040281	ORPHA:638
5605	MAP2K2	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
5605	MAP2K2	HP:0001622	Premature birth	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0002970	Genu varum	-	OMIM:615777
5605	MAP2K2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:1340
5605	MAP2K2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:638
5605	MAP2K2	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
5605	MAP2K2	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:1340
5605	MAP2K2	HP:0001631	Atrial septal defect	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0000303	Mandibular prognathia	-	OMIM:131300
5605	MAP2K2	HP:0000499	Abnormal eyelash morphology	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0000400	Macrotia	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5605	MAP2K2	HP:0000486	Strabismus	1/1	OMIM:615280
5605	MAP2K2	HP:0000486	Strabismus	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0000476	Cystic hygroma	2/43	OMIM:153400
5605	MAP2K2	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
5605	MAP2K2	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:638
5605	MAP2K2	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0000463	Anteverted nares	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
5605	MAP2K2	HP:0000470	Short neck	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0000470	Short neck	1/7	OMIM:615777
5605	MAP2K2	HP:0000465	Webbed neck	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0000465	Webbed neck	6/43	OMIM:153400
5605	MAP2K2	HP:0000465	Webbed neck	HP:0040281	ORPHA:638
5605	MAP2K2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5605	MAP2K2	HP:0001763	Pes planus	1/7	OMIM:615777
5605	MAP2K2	HP:0000518	Cataract	1/1	OMIM:615280
5605	MAP2K2	HP:0001840	Metatarsus adductus	-	OMIM:615777
5605	MAP2K2	HP:0000520	Proptosis	2/4	OMIM:131300
5605	MAP2K2	HP:0000520	Proptosis	7/7	OMIM:615777
5605	MAP2K2	HP:0000506	Telecanthus	-	OMIM:615280
5605	MAP2K2	HP:0000509	Conjunctivitis	-	OMIM:153400
5605	MAP2K2	HP:0000508	Ptosis	2/2	OMIM:615280
5605	MAP2K2	HP:0000508	Ptosis	2/39	OMIM:153400
5605	MAP2K2	HP:0000508	Ptosis	HP:0040281	ORPHA:638
5605	MAP2K2	HP:0000508	Ptosis	HP:0040282	ORPHA:1340
5605	MAP2K2	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:1340
5605	MAP2K2	HP:0000592	Blue sclerae	2/7	OMIM:615777
5605	MAP2K2	HP:0000568	Microphthalmia	1/6	OMIM:153400
5605	MAP2K2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5605	MAP2K2	HP:0012514	Lower limb pain	4/4	OMIM:131300
5605	MAP2K2	HP:0000545	Myopia	1/1	OMIM:615280
5605	MAP2K2	HP:0000545	Myopia	HP:0040282	ORPHA:1340
5610	EIF2AK2	HP:0002451	Limb dystonia	9/12	OMIM:619687
5610	EIF2AK2	HP:0001276	Hypertonia	8/9	OMIM:618877
5610	EIF2AK2	HP:0001276	Hypertonia	HP:0040281	ORPHA:256
5610	EIF2AK2	HP:0002599	Head titubation	1/9	OMIM:618877
5610	EIF2AK2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:256
5610	EIF2AK2	HP:0001250	Seizure	4/9	OMIM:618877
5610	EIF2AK2	HP:0001252	Hypotonia	7/9	OMIM:618877
5610	EIF2AK2	HP:0001249	Intellectual disability	1/12	OMIM:619687
5610	EIF2AK2	HP:0002578	Gastroparesis	1/9	OMIM:618877
5610	EIF2AK2	HP:0001266	Choreoathetosis	1/9	OMIM:618877
5610	EIF2AK2	HP:0001260	Dysarthria	6/9	OMIM:618877
5610	EIF2AK2	HP:0001263	Global developmental delay	2/12	OMIM:619687
5610	EIF2AK2	HP:0001257	Spasticity	7/9	OMIM:618877
5610	EIF2AK2	HP:0001257	Spasticity	2/12	OMIM:619687
5610	EIF2AK2	HP:0002540	Inability to walk	3/9	OMIM:618877
5610	EIF2AK2	HP:0002530	Axial dystonia	3/12	OMIM:619687
5610	EIF2AK2	HP:0000020	Urinary incontinence	1/9	OMIM:618877
5610	EIF2AK2	HP:0001332	Dystonia	4/9	OMIM:618877
5610	EIF2AK2	HP:0001332	Dystonia	12/12	OMIM:619687
5610	EIF2AK2	HP:0001344	Absent speech	3/9	OMIM:618877
5610	EIF2AK2	HP:0001337	Tremor	3/9	OMIM:618877
5610	EIF2AK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619687
5610	EIF2AK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618877
5610	EIF2AK2	HP:0001336	Myoclonus	1/9	OMIM:618877
5610	EIF2AK2	HP:0001300	Parkinsonism	4/9	OMIM:618877
5610	EIF2AK2	HP:0002607	Bowel incontinence	1/9	OMIM:618877
5610	EIF2AK2	HP:0008936	Axial hypotonia	1/12	OMIM:619687
5610	EIF2AK2	HP:0002067	Bradykinesia	3/9	OMIM:618877
5610	EIF2AK2	HP:0002066	Gait ataxia	4/7	OMIM:618877
5610	EIF2AK2	HP:0002063	Rigidity	1/9	OMIM:618877
5610	EIF2AK2	HP:0002078	Truncal ataxia	3/9	OMIM:618877
5610	EIF2AK2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:618877
5610	EIF2AK2	HP:0002059	Cerebral atrophy	-	OMIM:618877
5610	EIF2AK2	HP:0003487	Babinski sign	3/12	OMIM:619687
5610	EIF2AK2	HP:0002126	Polymicrogyria	1/9	OMIM:618877
5610	EIF2AK2	HP:0002188	Delayed CNS myelination	2/2	OMIM:618877
5610	EIF2AK2	HP:0003593	Infantile onset	-	OMIM:618877
5610	EIF2AK2	HP:0003621	Juvenile onset	4/11	OMIM:619687
5610	EIF2AK2	HP:0003011	Abnormality of the musculature	HP:0040281	ORPHA:256
5610	EIF2AK2	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:256
5610	EIF2AK2	HP:0011463	Childhood onset	6/11	OMIM:619687
5610	EIF2AK2	HP:0100248	Hemiballismus	1/9	OMIM:618877
5610	EIF2AK2	HP:0000298	Mask-like facies	2/9	OMIM:618877
5610	EIF2AK2	HP:0000252	Microcephaly	2/9	OMIM:618877
5610	EIF2AK2	HP:0032807	Neonatal seizure	1/12	OMIM:619687
5610	EIF2AK2	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:256
5610	EIF2AK2	HP:0001761	Pes cavus	1/12	OMIM:619687
5610	EIF2AK2	HP:0025708	Early young adult onset	1/11	OMIM:619687
5610	EIF2AK2	HP:0000511	Vertical supranuclear gaze palsy	1/12	OMIM:619687
5611	DNAJC3	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040282	ORPHA:445062
5611	DNAJC3	HP:0010871	Sensory ataxia	5/5	OMIM:616192
5611	DNAJC3	HP:0010871	Sensory ataxia	HP:0040282	ORPHA:445062
5611	DNAJC3	HP:0001272	Cerebellar atrophy	2/2	OMIM:616192
5611	DNAJC3	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:445062
5611	DNAJC3	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:445062
5611	DNAJC3	HP:0007366	Atrophy/Degeneration affecting the brainstem	-	OMIM:616192
5611	DNAJC3	HP:0007366	Atrophy/Degeneration affecting the brainstem	HP:0040282	ORPHA:445062
5611	DNAJC3	HP:0002522	Areflexia of lower limbs	3/5	OMIM:616192
5611	DNAJC3	HP:0002522	Areflexia of lower limbs	HP:0040282	ORPHA:445062
5611	DNAJC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:616192
5611	DNAJC3	HP:0100543	Cognitive impairment	1/5	OMIM:616192
5611	DNAJC3	HP:0002066	Gait ataxia	-	OMIM:616192
5611	DNAJC3	HP:0002066	Gait ataxia	HP:0040282	ORPHA:445062
5611	DNAJC3	HP:0002059	Cerebral atrophy	2/2	OMIM:616192
5611	DNAJC3	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:445062
5611	DNAJC3	HP:0003487	Babinski sign	2/5	OMIM:616192
5611	DNAJC3	HP:0003487	Babinski sign	HP:0040283	ORPHA:445062
5611	DNAJC3	HP:0003448	Decreased sensory nerve conduction velocity	5/5	OMIM:616192
5611	DNAJC3	HP:0003431	Decreased motor nerve conduction velocity	5/5	OMIM:616192
5611	DNAJC3	HP:0100651	Type I diabetes mellitus	5/5	OMIM:616192
5611	DNAJC3	HP:0009830	Peripheral neuropathy	5/5	OMIM:616192
5611	DNAJC3	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:445062
5611	DNAJC3	HP:0007108	Demyelinating peripheral neuropathy	HP:0040282	ORPHA:445062
5611	DNAJC3	HP:0003621	Juvenile onset	2/5	OMIM:616192
5611	DNAJC3	HP:0006827	Atrophy of the spinal cord	HP:0040282	ORPHA:445062
5611	DNAJC3	HP:0034063	Anti-islet antigen-2 antibody positivity	0/5	OMIM:616192
5611	DNAJC3	HP:0004325	Decreased body weight	HP:0040282	ORPHA:445062
5611	DNAJC3	HP:0004322	Short stature	4/5	OMIM:616192
5611	DNAJC3	HP:0004322	Short stature	HP:0040282	ORPHA:445062
5611	DNAJC3	HP:0011463	Childhood onset	2/5	OMIM:616192
5611	DNAJC3	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:445062
5611	DNAJC3	HP:0040217	Elevated hemoglobin A1c	5/5	OMIM:616192
5611	DNAJC3	HP:0000407	Sensorineural hearing impairment	5/5	OMIM:616192
5611	DNAJC3	HP:0025708	Early young adult onset	1/5	OMIM:616192
5618	PRLR	HP:0100829	Galactorrhea	HP:0040281	ORPHA:397685
5618	PRLR	HP:0100829	Galactorrhea	1/3	OMIM:615555
5618	PRLR	HP:0000007	Autosomal recessive inheritance	-	OMIM:615555
5618	PRLR	HP:0000006	Autosomal dominant inheritance	-	OMIM:615555
5618	PRLR	HP:0000006	Autosomal dominant inheritance	-	OMIM:615554
5618	PRLR	HP:0031109	Agalactia	HP:0040284	OMIM:615555
5618	PRLR	HP:0000141	Amenorrhea	HP:0040282	ORPHA:397685
5618	PRLR	HP:0000132	Menorrhagia	1/3	OMIM:615555
5618	PRLR	HP:0000132	Menorrhagia	HP:0040283	ORPHA:397685
5618	PRLR	HP:0000134	Female hypogonadism	HP:0040283	ORPHA:397685
5618	PRLR	HP:0008222	Female infertility	1/3	OMIM:615555
5618	PRLR	HP:0010619	Fibroadenoma of the breast	-	OMIM:615554
5618	PRLR	HP:0011462	Young adult onset	3/3	OMIM:615555
5618	PRLR	HP:0000789	Infertility	HP:0040282	ORPHA:397685
5618	PRLR	HP:0000876	Oligomenorrhea	HP:0040281	ORPHA:397685
5618	PRLR	HP:0000876	Oligomenorrhea	2/3	OMIM:615555
5618	PRLR	HP:0000870	Increased circulating prolactin concentration	3/3	OMIM:615555
5618	PRLR	HP:0012886	Hemorrhagic ovarian cyst	HP:0040282	ORPHA:397685
5618	PRLR	HP:0000939	Osteoporosis	HP:0040283	ORPHA:397685
5618	PRLR	HP:0000938	Osteopenia	HP:0040283	ORPHA:397685
5621	PRNP	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:282166
5621	PRNP	HP:0002457	Abnormal head movements	HP:0040283	ORPHA:157941
5621	PRNP	HP:0002446	Astrocytosis	HP:0040282	ORPHA:282166
5621	PRNP	HP:0009926	Epiphora	HP:0040282	ORPHA:466
5621	PRNP	HP:0025152	Poor visual behavior for age	HP:0040282	ORPHA:282166
5621	PRNP	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:282166
5621	PRNP	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:466
5621	PRNP	HP:0010850	EEG with spike-wave complexes	-	ORPHA:466
5621	PRNP	HP:0002401	Stroke-like episode	HP:0040282	ORPHA:282166
5621	PRNP	HP:0001298	Encephalopathy	-	OMIM:606688
5621	PRNP	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:157941
5621	PRNP	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:157941
5621	PRNP	HP:0001272	Cerebellar atrophy	-	OMIM:137440
5621	PRNP	HP:0001269	Hemiparesis	-	OMIM:123400
5621	PRNP	HP:0001268	Mental deterioration	HP:0040282	ORPHA:356
5621	PRNP	HP:0001289	Confusion	HP:0040282	ORPHA:282166
5621	PRNP	HP:0001289	Confusion	-	OMIM:123400
5621	PRNP	HP:0001288	Gait disturbance	HP:0040282	ORPHA:157941
5621	PRNP	HP:0001284	Areflexia	HP:0040282	ORPHA:356
5621	PRNP	HP:0001284	Areflexia	-	OMIM:137440
5621	PRNP	HP:0001250	Seizure	HP:0040283	ORPHA:157941
5621	PRNP	HP:0001250	Seizure	HP:0040282	ORPHA:282166
5621	PRNP	HP:0001251	Ataxia	13/15	OMIM:600072
5621	PRNP	HP:0001251	Ataxia	HP:0040282	ORPHA:466
5621	PRNP	HP:0001260	Dysarthria	-	OMIM:600072
5621	PRNP	HP:0001260	Dysarthria	-	OMIM:603218
5621	PRNP	HP:0001260	Dysarthria	HP:0040282	ORPHA:356
5621	PRNP	HP:0001260	Dysarthria	HP:0040282	ORPHA:466
5621	PRNP	HP:0001260	Dysarthria	HP:0040282	ORPHA:157941
5621	PRNP	HP:0001260	Dysarthria	-	OMIM:137440
5621	PRNP	HP:0001257	Spasticity	-	OMIM:137440
5621	PRNP	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:356
5621	PRNP	HP:0033687	Short term memory impairment	HP:0040282	ORPHA:466
5621	PRNP	HP:0007340	Lower limb muscle weakness	HP:0040281	ORPHA:356
5621	PRNP	HP:0007340	Lower limb muscle weakness	-	OMIM:137440
5621	PRNP	HP:0002533	Abnormal posturing	HP:0040283	ORPHA:157941
5621	PRNP	HP:0002549	Deficit in phonologic short-term memory	HP:0040281	ORPHA:280397
5621	PRNP	HP:0002529	Neuronal loss in central nervous system	HP:0040282	ORPHA:282166
5621	PRNP	HP:0002529	Neuronal loss in central nervous system	-	OMIM:600072
5621	PRNP	HP:0031006	Acroparesthesia	HP:0040282	ORPHA:356
5621	PRNP	HP:0001350	Slurred speech	HP:0040282	ORPHA:282166
5621	PRNP	HP:0001350	Slurred speech	HP:0040283	ORPHA:157941
5621	PRNP	HP:0000016	Urinary retention	-	OMIM:600072
5621	PRNP	HP:0001347	Hyperreflexia	-	OMIM:137440
5621	PRNP	HP:0001328	Specific learning disability	HP:0040281	ORPHA:280397
5621	PRNP	HP:0001324	Muscle weakness	HP:0040282	ORPHA:282166
5621	PRNP	HP:0001337	Tremor	HP:0040282	ORPHA:282166
5621	PRNP	HP:0001337	Tremor	-	OMIM:137440
5621	PRNP	HP:0000006	Autosomal dominant inheritance	-	OMIM:603218
5621	PRNP	HP:0000006	Autosomal dominant inheritance	-	OMIM:600072
5621	PRNP	HP:0000006	Autosomal dominant inheritance	-	OMIM:123400
5621	PRNP	HP:0000006	Autosomal dominant inheritance	-	OMIM:606688
5621	PRNP	HP:0000006	Autosomal dominant inheritance	-	OMIM:137440
5621	PRNP	HP:0001336	Myoclonus	HP:0040282	ORPHA:282166
5621	PRNP	HP:0001336	Myoclonus	15/15	OMIM:600072
5621	PRNP	HP:0001336	Myoclonus	HP:0040281	ORPHA:466
5621	PRNP	HP:0001336	Myoclonus	-	OMIM:123400
5621	PRNP	HP:0001336	Myoclonus	-	OMIM:137440
5621	PRNP	HP:0001310	Dysmetria	-	OMIM:603218
5621	PRNP	HP:0001310	Dysmetria	HP:0040283	ORPHA:157941
5621	PRNP	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:356
5621	PRNP	HP:0001317	Abnormal cerebellum morphology	-	OMIM:123400
5621	PRNP	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:356
5621	PRNP	HP:0001300	Parkinsonism	6/9	OMIM:606688
5621	PRNP	HP:0001300	Parkinsonism	-	OMIM:137440
5621	PRNP	HP:0007686	Abnormal pupillary function	HP:0040283	ORPHA:282166
5621	PRNP	HP:0002019	Constipation	-	OMIM:600072
5621	PRNP	HP:0002019	Constipation	HP:0040283	ORPHA:466
5621	PRNP	HP:0002015	Dysphagia	-	OMIM:600072
5621	PRNP	HP:0002015	Dysphagia	HP:0040282	ORPHA:466
5621	PRNP	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:356
5621	PRNP	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:466
5621	PRNP	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:157941
5621	PRNP	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:280397
5621	PRNP	HP:0002067	Bradykinesia	HP:0040282	ORPHA:282166
5621	PRNP	HP:0002067	Bradykinesia	HP:0040283	ORPHA:157941
5621	PRNP	HP:0002067	Bradykinesia	-	OMIM:137440
5621	PRNP	HP:0002066	Gait ataxia	HP:0040282	ORPHA:282166
5621	PRNP	HP:0002066	Gait ataxia	HP:0040281	ORPHA:356
5621	PRNP	HP:0002066	Gait ataxia	HP:0040282	ORPHA:157941
5621	PRNP	HP:0002066	Gait ataxia	-	OMIM:123400
5621	PRNP	HP:0002066	Gait ataxia	-	OMIM:137440
5621	PRNP	HP:0002063	Rigidity	-	OMIM:603218
5621	PRNP	HP:0002063	Rigidity	-	OMIM:137440
5621	PRNP	HP:0002062	Abnormal pyramidal tract morphology	HP:0040282	ORPHA:356
5621	PRNP	HP:0002078	Truncal ataxia	-	OMIM:137440
5621	PRNP	HP:0002072	Chorea	HP:0040283	ORPHA:282166
5621	PRNP	HP:0002072	Chorea	-	OMIM:603218
5621	PRNP	HP:0002072	Chorea	HP:0040281	ORPHA:157941
5621	PRNP	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:282166
5621	PRNP	HP:0002070	Limb ataxia	-	OMIM:137440
5621	PRNP	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:356
5621	PRNP	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:466
5621	PRNP	HP:0011730	Abnormal central sensory function	HP:0040282	ORPHA:356
5621	PRNP	HP:0040264	Jaw pain	HP:0040281	ORPHA:280397
5621	PRNP	HP:0003487	Babinski sign	HP:0040282	ORPHA:282166
5621	PRNP	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:157941
5621	PRNP	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:157941
5621	PRNP	HP:0002134	Abnormal basal ganglia morphology	HP:0040283	ORPHA:157941
5621	PRNP	HP:0002104	Apnea	-	OMIM:600072
5621	PRNP	HP:0002186	Apraxia	-	OMIM:137440
5621	PRNP	HP:0002185	Neurofibrillary tangles	0/3	OMIM:606688
5621	PRNP	HP:0002185	Neurofibrillary tangles	-	OMIM:137440
5621	PRNP	HP:0002171	Gliosis	HP:0040283	ORPHA:157941
5621	PRNP	HP:0002171	Gliosis	-	OMIM:606688
5621	PRNP	HP:0010542	Vestibular nystagmus	HP:0040283	ORPHA:282166
5621	PRNP	HP:0010535	Sleep apnea	HP:0040282	ORPHA:466
5621	PRNP	HP:0003401	Paresthesia	HP:0040282	ORPHA:356
5621	PRNP	HP:0003596	Middle age onset	-	OMIM:123400
5621	PRNP	HP:0003596	Middle age onset	8/9	OMIM:606688
5621	PRNP	HP:0003581	Adult onset	15/15	OMIM:600072
5621	PRNP	HP:0003581	Adult onset	-	OMIM:137440
5621	PRNP	HP:0100785	Insomnia	HP:0040282	ORPHA:282166
5621	PRNP	HP:0100785	Insomnia	13/15	OMIM:600072
5621	PRNP	HP:0100785	Insomnia	HP:0040281	ORPHA:466
5621	PRNP	HP:0100786	Hypersomnia	HP:0040282	ORPHA:282166
5621	PRNP	HP:0002283	Global brain atrophy	HP:0040282	ORPHA:282166
5621	PRNP	HP:0002283	Global brain atrophy	-	OMIM:603218
5621	PRNP	HP:0100754	Mania	-	OMIM:603218
5621	PRNP	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:157941
5621	PRNP	HP:0007017	Progressive forgetfulness	HP:0040282	ORPHA:282166
5621	PRNP	HP:0007018	Attention deficit hyperactivity disorder	HP:0040281	ORPHA:280397
5621	PRNP	HP:0007009	Central nervous system degeneration	HP:0040282	ORPHA:282166
5621	PRNP	HP:0007076	Extrapyramidal muscular rigidity	-	OMIM:123400
5621	PRNP	HP:0002381	Aphasia	-	OMIM:123400
5621	PRNP	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:356
5621	PRNP	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:280397
5621	PRNP	HP:0002359	Frequent falls	HP:0040283	ORPHA:157941
5621	PRNP	HP:0002375	Hypokinesia	HP:0040283	ORPHA:157941
5621	PRNP	HP:0002371	Loss of speech	HP:0040283	ORPHA:466
5621	PRNP	HP:0002353	EEG abnormality	HP:0040283	ORPHA:157941
5621	PRNP	HP:0002354	Memory impairment	-	OMIM:123400
5621	PRNP	HP:0002354	Memory impairment	3/9	OMIM:606688
5621	PRNP	HP:0002354	Memory impairment	HP:0040283	ORPHA:157941
5621	PRNP	HP:0002354	Memory impairment	-	OMIM:137440
5621	PRNP	HP:0003678	Rapidly progressive	-	OMIM:137440
5621	PRNP	HP:0003678	Rapidly progressive	-	OMIM:123400
5621	PRNP	HP:0002317	Unsteady gait	-	OMIM:603218
5621	PRNP	HP:0010846	EEG with persistent abnormal rhythmic activity	HP:0040282	ORPHA:282166
5621	PRNP	HP:0100661	Trigeminal neuralgia	HP:0040283	ORPHA:282166
5621	PRNP	HP:0007158	Progressive extrapyramidal muscular rigidity	HP:0040282	ORPHA:282166
5621	PRNP	HP:0002311	Incoordination	HP:0040283	ORPHA:157941
5621	PRNP	HP:0002311	Incoordination	-	OMIM:603218
5621	PRNP	HP:0002312	Clumsiness	HP:0040282	ORPHA:282166
5621	PRNP	HP:0002312	Clumsiness	HP:0040283	ORPHA:157941
5621	PRNP	HP:0007183	Focal T2 hyperintense basal ganglia lesion	HP:0040282	ORPHA:282166
5621	PRNP	HP:0031843	Abnormally slow thought process	HP:0040282	ORPHA:466
5621	PRNP	HP:0006801	Hyperactive deep tendon reflexes	HP:0040283	ORPHA:157941
5621	PRNP	HP:5200360	Short REM sleep	HP:0040282	ORPHA:466
5621	PRNP	HP:0000639	Nystagmus	HP:0040283	ORPHA:157941
5621	PRNP	HP:0000639	Nystagmus	HP:0040282	ORPHA:282166
5621	PRNP	HP:0000651	Diplopia	-	OMIM:600072
5621	PRNP	HP:0000651	Diplopia	HP:0040283	ORPHA:466
5621	PRNP	HP:0000617	Abnormality of ocular smooth pursuit	HP:0040283	ORPHA:157941
5621	PRNP	HP:0001945	Fever	-	OMIM:600072
5621	PRNP	HP:0001945	Fever	HP:0040283	ORPHA:466
5621	PRNP	HP:0000605	Supranuclear gaze palsy	HP:0040282	ORPHA:282166
5621	PRNP	HP:0000605	Supranuclear gaze palsy	-	OMIM:123400
5621	PRNP	HP:0012689	Abnormal pineal melatonin secretion	HP:0040283	ORPHA:466
5621	PRNP	HP:0012672	Akinetic mutism	HP:0040282	ORPHA:282166
5621	PRNP	HP:0012660	Thalamic hypometabolism in FDG PET	HP:0040282	ORPHA:466
5621	PRNP	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:466
5621	PRNP	HP:0006961	Jerky head movements	HP:0040283	ORPHA:157941
5621	PRNP	HP:0004305	Involuntary movements	HP:0040282	ORPHA:157941
5621	PRNP	HP:0006943	Diffuse spongiform leukoencephalopathy	HP:0040282	ORPHA:282166
5621	PRNP	HP:0003043	Abnormal shoulder morphology	HP:0040283	ORPHA:157941
5621	PRNP	HP:0006999	Basal ganglia gliosis	-	OMIM:603218
5621	PRNP	HP:0000751	Personality changes	HP:0040282	ORPHA:282166
5621	PRNP	HP:0000751	Personality changes	-	OMIM:137440
5621	PRNP	HP:0000751	Personality changes	-	OMIM:123400
5621	PRNP	HP:0000751	Personality changes	-	OMIM:603218
5621	PRNP	HP:0000751	Personality changes	9/9	OMIM:606688
5621	PRNP	HP:0000738	Hallucinations	HP:0040283	ORPHA:282166
5621	PRNP	HP:0000738	Hallucinations	HP:0040282	ORPHA:466
5621	PRNP	HP:0000738	Hallucinations	-	OMIM:123400
5621	PRNP	HP:0000737	Irritability	HP:0040282	ORPHA:282166
5621	PRNP	HP:0000737	Irritability	-	OMIM:123400
5621	PRNP	HP:0000739	Anxiety	HP:0040282	ORPHA:282166
5621	PRNP	HP:0000739	Anxiety	-	OMIM:603218
5621	PRNP	HP:0000739	Anxiety	HP:0040282	ORPHA:466
5621	PRNP	HP:0000739	Anxiety	HP:0040281	ORPHA:280397
5621	PRNP	HP:0000739	Anxiety	-	OMIM:123400
5621	PRNP	HP:0000736	Short attention span	HP:0040282	ORPHA:282166
5621	PRNP	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:157941
5621	PRNP	HP:0000746	Delusion	HP:0040283	ORPHA:282166
5621	PRNP	HP:0000746	Delusion	-	OMIM:123400
5621	PRNP	HP:0000746	Delusion	-	OMIM:603218
5621	PRNP	HP:0000746	Delusion	HP:0040282	ORPHA:157941
5621	PRNP	HP:0000741	Apathy	HP:0040282	ORPHA:282166
5621	PRNP	HP:0000741	Apathy	-	OMIM:123400
5621	PRNP	HP:0000716	Depression	HP:0040282	ORPHA:282166
5621	PRNP	HP:0000716	Depression	-	OMIM:603218
5621	PRNP	HP:0000716	Depression	HP:0040282	ORPHA:466
5621	PRNP	HP:0000716	Depression	HP:0040282	ORPHA:157941
5621	PRNP	HP:0000716	Depression	HP:0040281	ORPHA:280397
5621	PRNP	HP:0000716	Depression	-	OMIM:123400
5621	PRNP	HP:0000716	Depression	-	OMIM:137440
5621	PRNP	HP:0000718	Aggressive behavior	-	OMIM:603218
5621	PRNP	HP:0000718	Aggressive behavior	4/9	OMIM:606688
5621	PRNP	HP:0000718	Aggressive behavior	-	OMIM:137440
5621	PRNP	HP:0000712	Emotional lability	HP:0040282	ORPHA:282166
5621	PRNP	HP:0000712	Emotional lability	HP:0040281	ORPHA:280397
5621	PRNP	HP:0000712	Emotional lability	HP:0040282	ORPHA:466
5621	PRNP	HP:0000712	Emotional lability	-	OMIM:137440
5621	PRNP	HP:0000711	Restlessness	-	OMIM:603218
5621	PRNP	HP:0000711	Restlessness	HP:0040283	ORPHA:157941
5621	PRNP	HP:0000710	Hyperorality	5/9	OMIM:606688
5621	PRNP	HP:0000726	Dementia	HP:0040282	ORPHA:282166
5621	PRNP	HP:0000726	Dementia	-	OMIM:600072
5621	PRNP	HP:0000726	Dementia	-	OMIM:603218
5621	PRNP	HP:0000726	Dementia	HP:0040282	ORPHA:356
5621	PRNP	HP:0000726	Dementia	HP:0040281	ORPHA:466
5621	PRNP	HP:0000726	Dementia	HP:0040282	ORPHA:157941
5621	PRNP	HP:0000726	Dementia	-	OMIM:123400
5621	PRNP	HP:0000726	Dementia	9/9	OMIM:606688
5621	PRNP	HP:0000726	Dementia	-	OMIM:137440
5621	PRNP	HP:0000709	Psychosis	-	OMIM:137440
5621	PRNP	HP:0000708	Atypical behavior	HP:0040282	ORPHA:157941
5621	PRNP	HP:0000708	Atypical behavior	HP:0040281	ORPHA:280397
5621	PRNP	HP:0011458	Abdominal symptom	HP:0040281	ORPHA:280397
5621	PRNP	HP:0011462	Young adult onset	11/11	OMIM:603218
5621	PRNP	HP:0011446	Abnormality of mental function	HP:0040283	ORPHA:157941
5621	PRNP	HP:0003118	Increased circulating cortisol level	HP:0040283	ORPHA:466
5621	PRNP	HP:0000822	Hypertension	HP:0040282	ORPHA:466
5621	PRNP	HP:0040201	Simultanapraxia	HP:0040283	ORPHA:157941
5621	PRNP	HP:5200044	Reduced attention regulation	HP:0040282	ORPHA:466
5621	PRNP	HP:0045084	Limb myoclonus	HP:0040283	ORPHA:356
5621	PRNP	HP:0100256	Senile plaques	HP:0040282	ORPHA:282166
5621	PRNP	HP:0008003	Jerky ocular pursuit movements	HP:0040283	ORPHA:157941
5621	PRNP	HP:0000975	Hyperhidrosis	-	OMIM:600072
5621	PRNP	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:466
5621	PRNP	HP:0100292	Amyloidosis of peripheral nerves	HP:0040283	ORPHA:282166
5621	PRNP	HP:0000298	Mask-like facies	HP:0040283	ORPHA:157941
5621	PRNP	HP:0007772	Impaired smooth pursuit	-	OMIM:137440
5621	PRNP	HP:0006511	Laryngeal stridor	HP:0040282	ORPHA:466
5621	PRNP	HP:0011099	Spastic hemiparesis	HP:0040282	ORPHA:282166
5621	PRNP	HP:0002922	Increased CSF protein concentration	HP:0040283	ORPHA:282166
5621	PRNP	HP:0002922	Increased CSF protein concentration	HP:0040283	OMIM:123400
5621	PRNP	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	ORPHA:282166
5621	PRNP	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040281	ORPHA:466
5621	PRNP	HP:0012332	Abnormal autonomic nervous system physiology	-	OMIM:600072
5621	PRNP	HP:0001649	Tachycardia	HP:0040282	ORPHA:466
5621	PRNP	HP:0005327	Loss of facial expression	HP:0040282	ORPHA:282166
5621	PRNP	HP:0005327	Loss of facial expression	-	OMIM:123400
5621	PRNP	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:157941
5621	PRNP	HP:0030223	Perseverative thought	HP:0040281	ORPHA:280397
5621	PRNP	HP:0030223	Perseverative thought	-	OMIM:137440
5621	PRNP	HP:0025710	Late young adult onset	1/9	OMIM:606688
5621	PRNP	HP:0006790	Cerebral cortex with spongiform changes	3/3	OMIM:606688
5621	PRNP	HP:0006790	Cerebral cortex with spongiform changes	3/13	OMIM:600072
5621	PRNP	HP:0000514	Slow saccadic eye movements	HP:0040283	ORPHA:157941
5621	PRNP	HP:0001824	Weight loss	-	OMIM:600072
5621	PRNP	HP:0001824	Weight loss	HP:0040283	ORPHA:466
5621	PRNP	HP:0001824	Weight loss	HP:0040283	ORPHA:157941
5621	PRNP	HP:0001824	Weight loss	-	OMIM:137440
5621	PRNP	HP:0000505	Visual impairment	-	OMIM:123400
5621	PRNP	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:282166
5621	PRNP	HP:0000570	Abnormal saccadic eye movements	HP:0040283	ORPHA:157941
5621	PRNP	HP:0012534	Dysesthesia	HP:0040281	ORPHA:356
5624	PROC	HP:0001250	Seizure	-	OMIM:612304
5624	PROC	HP:0001263	Global developmental delay	-	OMIM:612304
5624	PROC	HP:0000007	Autosomal recessive inheritance	-	OMIM:612304
5624	PROC	HP:0000006	Autosomal dominant inheritance	-	OMIM:176860
5624	PROC	HP:0002638	Superficial thrombophlebitis	-	OMIM:612304
5624	PROC	HP:0002638	Superficial thrombophlebitis	-	OMIM:176860
5624	PROC	HP:0002625	Deep venous thrombosis	-	OMIM:176860
5624	PROC	HP:0003593	Infantile onset	1/9	OMIM:612304
5624	PROC	HP:0002204	Pulmonary embolism	-	OMIM:612304
5624	PROC	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:745
5624	PROC	HP:0002204	Pulmonary embolism	-	OMIM:176860
5624	PROC	HP:0100724	Hypercoagulability	-	OMIM:612304
5624	PROC	HP:0100724	Hypercoagulability	-	OMIM:176860
5624	PROC	HP:0100758	Gangrene	HP:0040283	ORPHA:745
5624	PROC	HP:0004850	Recurrent deep vein thrombosis	4/9	OMIM:612304
5624	PROC	HP:0001038	Warfarin-induced skin necrosis	-	OMIM:176860
5624	PROC	HP:0001038	Warfarin-induced skin necrosis	HP:0040283	ORPHA:745
5624	PROC	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:745
5624	PROC	HP:0100659	Abnormal cerebral vascular morphology	HP:0040283	ORPHA:745
5624	PROC	HP:0003623	Neonatal onset	6/9	OMIM:612304
5624	PROC	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:745
5624	PROC	HP:0003621	Juvenile onset	2/9	OMIM:612304
5624	PROC	HP:0005543	Reduced protein C activity	9/9	OMIM:612304
5624	PROC	HP:0005543	Reduced protein C activity	-	OMIM:176860
5624	PROC	HP:0100021	Cerebral palsy	-	OMIM:612304
5624	PROC	HP:0000707	Abnormality of the nervous system	-	OMIM:176860
5624	PROC	HP:0000979	Purpura	HP:0040282	ORPHA:745
5624	PROC	HP:0000979	Purpura	-	OMIM:612304
5624	PROC	HP:0000963	Thin skin	HP:0040282	ORPHA:745
5624	PROC	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:745
5624	PROC	HP:0007902	Vitreous hemorrhage	-	OMIM:612304
5624	PROC	HP:0005305	Cerebral venous thrombosis	-	OMIM:176860
5624	PROC	HP:0005293	Venous insufficiency	HP:0040283	ORPHA:745
5624	PROC	HP:0000478	Abnormality of the eye	-	OMIM:176860
5625	PRODH	HP:0001290	Generalized hypotonia	-	OMIM:239500
5625	PRODH	HP:0001250	Seizure	13/19	OMIM:239500
5625	PRODH	HP:0001250	Seizure	HP:0040283	ORPHA:419
5625	PRODH	HP:0001252	Hypotonia	-	OMIM:239500
5625	PRODH	HP:0001251	Ataxia	7/23	OMIM:239500
5625	PRODH	HP:0001249	Intellectual disability	20/20	OMIM:239500
5625	PRODH	HP:0001263	Global developmental delay	14/23	OMIM:239500
5625	PRODH	HP:0000093	Proteinuria	HP:0040282	ORPHA:419
5625	PRODH	HP:0000007	Autosomal recessive inheritance	-	OMIM:239500
5625	PRODH	HP:0000006	Autosomal dominant inheritance	-	OMIM:600850
5625	PRODH	HP:0000112	Nephropathy	HP:0040282	ORPHA:419
5625	PRODH	HP:0002133	Status epilepticus	-	OMIM:239500
5625	PRODH	HP:0100753	Schizophrenia	4/4	OMIM:600850
5625	PRODH	HP:0100753	Schizophrenia	-	OMIM:239500
5625	PRODH	HP:0100753	Schizophrenia	HP:0040283	ORPHA:419
5625	PRODH	HP:0008358	Hyperprolinemia	4/4	OMIM:600850
5625	PRODH	HP:0008358	Hyperprolinemia	14/14	OMIM:239500
5625	PRODH	HP:0008358	Hyperprolinemia	HP:0040282	ORPHA:419
5625	PRODH	HP:0002353	EEG abnormality	-	OMIM:239500
5625	PRODH	HP:0003080	Hydroxyprolinuria	-	OMIM:239500
5625	PRODH	HP:0000752	Hyperactivity	-	OMIM:239500
5625	PRODH	HP:0000733	Motor stereotypy	-	OMIM:239500
5625	PRODH	HP:0000750	Delayed speech and language development	4/4	OMIM:239500
5625	PRODH	HP:0000718	Aggressive behavior	-	OMIM:239500
5625	PRODH	HP:0000729	Autistic behavior	3/19	OMIM:239500
5625	PRODH	HP:0003108	Hyperglycinuria	2/3	OMIM:239500
5625	PRODH	HP:0003137	Prolinuria	-	OMIM:239500
5625	PRODH	HP:0003137	Prolinuria	HP:0040282	ORPHA:419
5626	PROP1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:226307
5626	PROP1	HP:0009888	Abnormality of secondary sexual hair	HP:0040282	ORPHA:95494
5626	PROP1	HP:0009888	Abnormality of secondary sexual hair	HP:0040282	ORPHA:90695
5626	PROP1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5626	PROP1	HP:0001293	Cranial nerve compression	-	OMIM:131300
5626	PROP1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:226307
5626	PROP1	HP:0001274	Agenesis of corpus callosum	HP:0040284	ORPHA:95494
5626	PROP1	HP:0001254	Lethargy	HP:0040282	ORPHA:226307
5626	PROP1	HP:0001250	Seizure	HP:0040284	ORPHA:95494
5626	PROP1	HP:0001250	Seizure	-	OMIM:262600
5626	PROP1	HP:0001252	Hypotonia	HP:0040283	ORPHA:226307
5626	PROP1	HP:0001252	Hypotonia	2/7	OMIM:615777
5626	PROP1	HP:0001249	Intellectual disability	5/7	OMIM:615777
5626	PROP1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:226307
5626	PROP1	HP:0001263	Global developmental delay	-	OMIM:615777
5626	PROP1	HP:0100842	Septo-optic dysplasia	HP:0040284	ORPHA:95494
5626	PROP1	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:95494
5626	PROP1	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:90695
5626	PROP1	HP:0031098	Decreased thyroid-stimulating hormone level	6/6	OMIM:262600
5626	PROP1	HP:0031098	Decreased thyroid-stimulating hormone level	HP:0040281	ORPHA:226307
5626	PROP1	HP:0002515	Waddling gait	54/102	OMIM:131300
5626	PROP1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:226307
5626	PROP1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:95494
5626	PROP1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:90695
5626	PROP1	HP:0001382	Joint hypermobility	-	OMIM:615777
5626	PROP1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5626	PROP1	HP:0001360	Holoprosencephaly	HP:0040284	ORPHA:95494
5626	PROP1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5626	PROP1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:226307
5626	PROP1	HP:0008828	Delayed proximal femoral epiphyseal ossification	HP:0040282	ORPHA:226307
5626	PROP1	HP:0001331	Absent septum pellucidum	HP:0040284	ORPHA:95494
5626	PROP1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5626	PROP1	HP:0001324	Muscle weakness	40/96	OMIM:131300
5626	PROP1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5626	PROP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5626	PROP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:262600
5626	PROP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5626	PROP1	HP:0002650	Scoliosis	12/14	OMIM:131300
5626	PROP1	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:226307
5626	PROP1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5626	PROP1	HP:0002615	Hypotension	HP:0040282	ORPHA:95494
5626	PROP1	HP:0002615	Hypotension	HP:0040282	ORPHA:90695
5626	PROP1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5626	PROP1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5626	PROP1	HP:0025483	Abnormal circulating thyroglobulin concentration	-	ORPHA:226307
5626	PROP1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5626	PROP1	HP:0000158	Macroglossia	HP:0040282	ORPHA:226307
5626	PROP1	HP:0000175	Cleft palate	2/7	OMIM:615777
5626	PROP1	HP:0000141	Amenorrhea	HP:0040282	ORPHA:95494
5626	PROP1	HP:0000141	Amenorrhea	HP:0040282	ORPHA:90695
5626	PROP1	HP:0000135	Hypogonadism	-	OMIM:262600
5626	PROP1	HP:0031218	Inappropriate antidiuretic hormone secretion	HP:0040283	ORPHA:226307
5626	PROP1	HP:0031219	Reduced radioactive iodine uptake	HP:0040281	ORPHA:226307
5626	PROP1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:90695
5626	PROP1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:95494
5626	PROP1	HP:0002019	Constipation	HP:0040282	ORPHA:226307
5626	PROP1	HP:0002019	Constipation	HP:0040283	ORPHA:95494
5626	PROP1	HP:0002019	Constipation	HP:0040283	ORPHA:90695
5626	PROP1	HP:0005990	Thyroid hypoplasia	HP:0040282	ORPHA:226307
5626	PROP1	HP:0004637	Decreased cervical spine mobility	HP:0040283	ORPHA:226307
5626	PROP1	HP:0004637	Decreased cervical spine mobility	HP:0040284	ORPHA:95494
5626	PROP1	HP:0011800	Midface retrusion	HP:0040283	ORPHA:226307
5626	PROP1	HP:0002045	Hypothermia	HP:0040282	ORPHA:226307
5626	PROP1	HP:0003388	Easy fatigability	36/76	OMIM:131300
5626	PROP1	HP:0010442	Polydactyly	HP:0040284	ORPHA:95494
5626	PROP1	HP:0011755	Ectopic posterior pituitary	HP:0040284	ORPHA:95494
5626	PROP1	HP:0011755	Ectopic posterior pituitary	HP:0040283	ORPHA:226307
5626	PROP1	HP:0011755	Ectopic posterior pituitary	HP:0040284	ORPHA:90695
5626	PROP1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5626	PROP1	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:226307
5626	PROP1	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:95494
5626	PROP1	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:90695
5626	PROP1	HP:0002173	Hypoglycemic seizures	-	OMIM:262600
5626	PROP1	HP:0008245	Pituitary hypothyroidism	HP:0040281	ORPHA:226307
5626	PROP1	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:95494
5626	PROP1	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:90695
5626	PROP1	HP:0008202	Reduced circulating prolactin concentration	4/4	OMIM:262600
5626	PROP1	HP:0008202	Reduced circulating prolactin concentration	HP:0040282	ORPHA:226307
5626	PROP1	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:226307
5626	PROP1	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:95494
5626	PROP1	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:90695
5626	PROP1	HP:0010626	Anterior pituitary agenesis	HP:0040282	ORPHA:95494
5626	PROP1	HP:0003510	Severe short stature	7/7	OMIM:615777
5626	PROP1	HP:0002315	Headache	-	OMIM:131300
5626	PROP1	HP:0004976	Knee dislocation	6/7	OMIM:615777
5626	PROP1	HP:0009803	Short phalanx of finger	-	OMIM:615777
5626	PROP1	HP:0009763	Limb pain	63/92	OMIM:131300
5626	PROP1	HP:0003621	Juvenile onset	-	OMIM:131300
5626	PROP1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5626	PROP1	HP:0009099	Median cleft palate	HP:0040284	ORPHA:95494
5626	PROP1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5626	PROP1	HP:6001056	Out-toeing	-	OMIM:131300
5626	PROP1	HP:0000651	Diplopia	-	OMIM:131300
5626	PROP1	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:226307
5626	PROP1	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:95494
5626	PROP1	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:90695
5626	PROP1	HP:0001956	Truncal obesity	2/7	OMIM:615777
5626	PROP1	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:226307
5626	PROP1	HP:0000609	Optic nerve hypoplasia	HP:0040284	ORPHA:95494
5626	PROP1	HP:0001903	Anemia	HP:0040283	OMIM:131300
5626	PROP1	HP:0010049	Short metacarpal	-	OMIM:615777
5626	PROP1	HP:0011344	Severe global developmental delay	HP:0040284	ORPHA:95494
5626	PROP1	HP:0000678	Dental crowding	-	OMIM:615777
5626	PROP1	HP:0000670	Carious teeth	-	OMIM:131300
5626	PROP1	HP:0011304	Broad thumb	2/7	OMIM:615777
5626	PROP1	HP:0000668	Hypodontia	-	OMIM:615777
5626	PROP1	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:226307
5626	PROP1	HP:0001998	Neonatal hypoglycemia	-	OMIM:262600
5626	PROP1	HP:0000664	Synophrys	-	OMIM:615777
5626	PROP1	HP:0004322	Short stature	HP:0040282	ORPHA:90695
5626	PROP1	HP:0004322	Short stature	-	OMIM:262600
5626	PROP1	HP:0005625	Osteoporosis of vertebrae	HP:0040283	ORPHA:95494
5626	PROP1	HP:0005625	Osteoporosis of vertebrae	HP:0040283	ORPHA:90695
5626	PROP1	HP:0004396	Poor appetite	-	OMIM:131300
5626	PROP1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5626	PROP1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5626	PROP1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5626	PROP1	HP:0003026	Short long bone	7/7	OMIM:615777
5626	PROP1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5626	PROP1	HP:0012731	Ectopic anterior pituitary gland	HP:0040284	ORPHA:95494
5626	PROP1	HP:0012731	Ectopic anterior pituitary gland	HP:0040284	ORPHA:90695
5626	PROP1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5626	PROP1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5626	PROP1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5626	PROP1	HP:0000750	Delayed speech and language development	-	OMIM:615777
5626	PROP1	HP:0011461	Fetal onset	7/7	OMIM:615777
5626	PROP1	HP:0011437	Maternal autoimmune disease	-	ORPHA:226307
5626	PROP1	HP:0000774	Narrow chest	2/7	OMIM:615777
5626	PROP1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:226307
5626	PROP1	HP:0000789	Infertility	HP:0040282	ORPHA:95494
5626	PROP1	HP:0000789	Infertility	HP:0040282	ORPHA:90695
5626	PROP1	HP:0000926	Platyspondyly	1/7	OMIM:615777
5626	PROP1	HP:0003180	Flat acetabular roof	-	OMIM:615777
5626	PROP1	HP:0004482	Relative macrocephaly	-	OMIM:615777
5626	PROP1	HP:0004491	Large posterior fontanelle	HP:0040282	ORPHA:226307
5626	PROP1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5626	PROP1	HP:0000871	Panhypopituitarism	HP:0040282	ORPHA:226307
5626	PROP1	HP:0000871	Panhypopituitarism	-	OMIM:262600
5626	PROP1	HP:0000839	Pituitary dwarfism	HP:0040283	ORPHA:226307
5626	PROP1	HP:0000839	Pituitary dwarfism	HP:0040283	ORPHA:95494
5626	PROP1	HP:0000839	Pituitary dwarfism	HP:0040283	ORPHA:90695
5626	PROP1	HP:0000846	Adrenal insufficiency	-	OMIM:262600
5626	PROP1	HP:0000821	Hypothyroidism	-	OMIM:262600
5626	PROP1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:226307
5626	PROP1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:95494
5626	PROP1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:90695
5626	PROP1	HP:0000823	Delayed puberty	-	OMIM:131300
5626	PROP1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:95494
5626	PROP1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:90695
5626	PROP1	HP:0040075	Hypopituitarism	HP:0040282	ORPHA:226307
5626	PROP1	HP:0040075	Hypopituitarism	HP:0040280	ORPHA:95494
5626	PROP1	HP:0040075	Hypopituitarism	HP:0040280	ORPHA:90695
5626	PROP1	HP:0040086	Abnormal prolactin level	HP:0040282	ORPHA:95494
5626	PROP1	HP:0040086	Abnormal prolactin level	HP:0040282	ORPHA:90695
5626	PROP1	HP:0000894	Short clavicles	-	OMIM:615777
5626	PROP1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5626	PROP1	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:95494
5626	PROP1	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:90695
5626	PROP1	HP:0034323	Reduced circulating growth hormone concentration	6/6	OMIM:262600
5626	PROP1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5626	PROP1	HP:0000938	Osteopenia	HP:0040282	ORPHA:95494
5626	PROP1	HP:0000938	Osteopenia	HP:0040283	ORPHA:90695
5626	PROP1	HP:0009381	Short finger	HP:0040283	ORPHA:226307
5626	PROP1	HP:0000286	Epicanthus	1/7	OMIM:615777
5626	PROP1	HP:0000282	Facial edema	HP:0040282	ORPHA:226307
5626	PROP1	HP:0000280	Coarse facial features	2/7	OMIM:615777
5626	PROP1	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:226307
5626	PROP1	HP:0002827	Hip dislocation	3/7	OMIM:615777
5626	PROP1	HP:0000252	Microcephaly	-	OMIM:615777
5626	PROP1	HP:0025502	Overweight	HP:0040283	ORPHA:226307
5626	PROP1	HP:0002857	Genu valgum	-	OMIM:131300
5626	PROP1	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:226307
5626	PROP1	HP:0001533	Slender build	-	OMIM:131300
5626	PROP1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5626	PROP1	HP:0001510	Growth delay	HP:0040282	ORPHA:90695
5626	PROP1	HP:0001510	Growth delay	HP:0040282	ORPHA:226307
5626	PROP1	HP:0001510	Growth delay	HP:0040282	ORPHA:95494
5626	PROP1	HP:0007807	Optic nerve compression	-	OMIM:131300
5626	PROP1	HP:0031507	Decreased circulating T4 concentration	HP:0040282	ORPHA:226307
5626	PROP1	HP:0012378	Fatigue	HP:0040282	ORPHA:226307
5626	PROP1	HP:0012378	Fatigue	HP:0040282	ORPHA:95494
5626	PROP1	HP:0012378	Fatigue	HP:0040282	ORPHA:90695
5626	PROP1	HP:0012368	Flat face	7/7	OMIM:615777
5626	PROP1	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0/4	OMIM:262600
5626	PROP1	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:226307
5626	PROP1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5626	PROP1	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:95494
5626	PROP1	HP:0002920	Decreased circulating ACTH concentration	HP:0040283	ORPHA:226307
5626	PROP1	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:90695
5626	PROP1	HP:0000365	Hearing impairment	10/67	OMIM:131300
5626	PROP1	HP:0000343	Long philtrum	1/7	OMIM:615777
5626	PROP1	HP:0011001	Increased bone mineral density	-	OMIM:131300
5626	PROP1	HP:0000311	Round face	2/7	OMIM:615777
5626	PROP1	HP:0001662	Bradycardia	HP:0040282	ORPHA:226307
5626	PROP1	HP:0002970	Genu varum	-	OMIM:615777
5626	PROP1	HP:0000303	Mandibular prognathia	-	OMIM:131300
5626	PROP1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:226307
5626	PROP1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:226307
5626	PROP1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5626	PROP1	HP:0000478	Abnormality of the eye	HP:0040284	ORPHA:95494
5626	PROP1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:95494
5626	PROP1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:90695
5626	PROP1	HP:0000470	Short neck	HP:0040283	ORPHA:226307
5626	PROP1	HP:0000470	Short neck	1/7	OMIM:615777
5626	PROP1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5626	PROP1	HP:0001763	Pes planus	1/7	OMIM:615777
5626	PROP1	HP:0011297	Abnormal digit morphology	HP:0040284	ORPHA:95494
5626	PROP1	HP:0001840	Metatarsus adductus	-	OMIM:615777
5626	PROP1	HP:0000520	Proptosis	2/4	OMIM:131300
5626	PROP1	HP:0000520	Proptosis	7/7	OMIM:615777
5626	PROP1	HP:0030344	Decreased circulating luteinizing hormone level	4/4	OMIM:262600
5626	PROP1	HP:0030344	Decreased circulating luteinizing hormone level	HP:0040283	ORPHA:226307
5626	PROP1	HP:0030341	Decreased circulating follicle stimulating hormone concentration	6/6	OMIM:262600
5626	PROP1	HP:0030341	Decreased circulating follicle stimulating hormone concentration	HP:0040283	ORPHA:226307
5626	PROP1	HP:0000592	Blue sclerae	2/7	OMIM:615777
5626	PROP1	HP:0011220	Prominent forehead	HP:0040283	ORPHA:226307
5626	PROP1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5626	PROP1	HP:0012514	Lower limb pain	4/4	OMIM:131300
5627	PROS1	HP:0001250	Seizure	1/1	OMIM:614514
5627	PROS1	HP:0001342	Cerebral hemorrhage	1/1	OMIM:614514
5627	PROS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614514
5627	PROS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:612336
5627	PROS1	HP:0002638	Superficial thrombophlebitis	-	OMIM:614514
5627	PROS1	HP:0002638	Superficial thrombophlebitis	-	OMIM:612336
5627	PROS1	HP:0002625	Deep venous thrombosis	HP:0040282	ORPHA:743
5627	PROS1	HP:0004855	Reduced protein S activity	1/1	OMIM:614514
5627	PROS1	HP:0004855	Reduced protein S activity	-	OMIM:612336
5627	PROS1	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:743
5627	PROS1	HP:0002204	Pulmonary embolism	-	OMIM:614514
5627	PROS1	HP:0002204	Pulmonary embolism	-	OMIM:612336
5627	PROS1	HP:0100724	Hypercoagulability	1/1	OMIM:614514
5627	PROS1	HP:0100724	Hypercoagulability	-	OMIM:612336
5627	PROS1	HP:0100758	Gangrene	HP:0040283	ORPHA:743
5627	PROS1	HP:0001038	Warfarin-induced skin necrosis	-	OMIM:612336
5627	PROS1	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:743
5627	PROS1	HP:0100659	Abnormal cerebral vascular morphology	HP:0040283	ORPHA:743
5627	PROS1	HP:0200042	Skin ulcer	HP:0040283	ORPHA:743
5627	PROS1	HP:0003623	Neonatal onset	1/1	OMIM:614514
5627	PROS1	HP:0005521	Disseminated intravascular coagulation	1/1	OMIM:614514
5627	PROS1	HP:0000618	Blindness	-	OMIM:614514
5627	PROS1	HP:0001933	Subcutaneous hemorrhage	HP:0040282	ORPHA:743
5627	PROS1	HP:0001903	Anemia	1/1	OMIM:614514
5627	PROS1	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:743
5627	PROS1	HP:0004420	Arterial thrombosis	-	OMIM:614514
5627	PROS1	HP:0004420	Arterial thrombosis	-	OMIM:612336
5627	PROS1	HP:0004418	Thrombophlebitis	HP:0040282	ORPHA:743
5627	PROS1	HP:0000979	Purpura	HP:0040281	ORPHA:743
5627	PROS1	HP:0000979	Purpura	1/1	OMIM:614514
5627	PROS1	HP:0000979	Purpura	-	OMIM:612336
5627	PROS1	HP:0000963	Thin skin	HP:0040282	ORPHA:743
5627	PROS1	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:743
5627	PROS1	HP:0005305	Cerebral venous thrombosis	-	OMIM:614514
5627	PROS1	HP:0005305	Cerebral venous thrombosis	-	OMIM:612336
5627	PROS1	HP:0005293	Venous insufficiency	HP:0040283	ORPHA:743
5627	PROS1	HP:0000488	Retinopathy	HP:0040282	ORPHA:743
5629	PROX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
5629	PROX1	HP:0002619	Varicose veins	-	OMIM:153400
5629	PROX1	HP:0000175	Cleft palate	5/39	OMIM:153400
5629	PROX1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
5629	PROX1	HP:0009743	Distichiasis	42/42	OMIM:153400
5629	PROX1	HP:0001004	Lymphedema	-	OMIM:153400
5629	PROX1	HP:0100658	Cellulitis	2/6	OMIM:153400
5629	PROX1	HP:0000613	Photophobia	10/49	OMIM:153400
5629	PROX1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
5629	PROX1	HP:0000656	Ectropion	2/43	OMIM:153400
5629	PROX1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
5629	PROX1	HP:0012804	Corneal ulceration	-	OMIM:153400
5629	PROX1	HP:0010310	Chylothorax	1/6	OMIM:153400
5629	PROX1	HP:0011675	Arrhythmia	-	OMIM:153400
5629	PROX1	HP:0002808	Kyphosis	2/5	OMIM:153400
5629	PROX1	HP:0000204	Cleft upper lip	-	OMIM:153400
5629	PROX1	HP:0000347	Micrognathia	2/5	OMIM:153400
5629	PROX1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
5629	PROX1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
5629	PROX1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
5629	PROX1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
5629	PROX1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
5629	PROX1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
5629	PROX1	HP:0000465	Webbed neck	6/43	OMIM:153400
5629	PROX1	HP:0000509	Conjunctivitis	-	OMIM:153400
5629	PROX1	HP:0000508	Ptosis	2/39	OMIM:153400
5629	PROX1	HP:0000568	Microphthalmia	1/6	OMIM:153400
5630	PRPH	HP:0002463	Language impairment	HP:0040283	ORPHA:803
5630	PRPH	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
5630	PRPH	HP:0001260	Dysarthria	-	OMIM:105400
5630	PRPH	HP:0001257	Spasticity	HP:0040282	ORPHA:803
5630	PRPH	HP:0001257	Spasticity	-	OMIM:105400
5630	PRPH	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
5630	PRPH	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
5630	PRPH	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:105400
5630	PRPH	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
5630	PRPH	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
5630	PRPH	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
5630	PRPH	HP:0001347	Hyperreflexia	-	OMIM:105400
5630	PRPH	HP:0001324	Muscle weakness	-	OMIM:105400
5630	PRPH	HP:0000007	Autosomal recessive inheritance	-	OMIM:105400
5630	PRPH	HP:0000006	Autosomal dominant inheritance	-	OMIM:105400
5630	PRPH	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
5630	PRPH	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
5630	PRPH	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
5630	PRPH	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
5630	PRPH	HP:0002015	Dysphagia	-	OMIM:105400
5630	PRPH	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
5630	PRPH	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
5630	PRPH	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
5630	PRPH	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
5630	PRPH	HP:0003394	Muscle spasm	-	OMIM:105400
5630	PRPH	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
5630	PRPH	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
5630	PRPH	HP:0003470	Paralysis	HP:0040282	ORPHA:803
5630	PRPH	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
5630	PRPH	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
5630	PRPH	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
5630	PRPH	HP:0010535	Sleep apnea	-	OMIM:105400
5630	PRPH	HP:0003581	Adult onset	-	OMIM:105400
5630	PRPH	HP:0007024	Pseudobulbar paralysis	-	OMIM:105400
5630	PRPH	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
5630	PRPH	HP:0002380	Fasciculations	-	OMIM:105400
5630	PRPH	HP:0002398	Degeneration of anterior horn cells	-	OMIM:105400
5630	PRPH	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
5630	PRPH	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
5630	PRPH	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
5630	PRPH	HP:0002314	Degeneration of the lateral corticospinal tracts	-	OMIM:105400
5630	PRPH	HP:0002307	Drooling	HP:0040282	ORPHA:803
5630	PRPH	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
5630	PRPH	HP:0004326	Cachexia	HP:0040283	ORPHA:803
5630	PRPH	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
5630	PRPH	HP:0000739	Anxiety	HP:0040282	ORPHA:803
5630	PRPH	HP:0000716	Depression	HP:0040282	ORPHA:803
5630	PRPH	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
5630	PRPH	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
5630	PRPH	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
5630	PRPH	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
5630	PRPH	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
5630	PRPH	HP:0003202	Skeletal muscle atrophy	-	OMIM:105400
5630	PRPH	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
5630	PRPH	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
5630	PRPH	HP:0012378	Fatigue	HP:0040282	ORPHA:803
5630	PRPH	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
5630	PRPH	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
5630	PRPH	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
5630	PRPH	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
5630	PRPH	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
5630	PRPH	HP:0001824	Weight loss	HP:0040282	ORPHA:803
5630	PRPH	HP:0012531	Pain	HP:0040282	ORPHA:803
5631	PRPS1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5631	PRPS1	HP:0002463	Language impairment	HP:0040283	ORPHA:99014
5631	PRPS1	HP:0002460	Distal muscle weakness	-	OMIM:311070
5631	PRPS1	HP:0002445	Tetraplegia	HP:0040282	ORPHA:1187
5631	PRPS1	HP:0002445	Tetraplegia	-	OMIM:301835
5631	PRPS1	HP:0001116	Macular coloboma	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0007328	Impaired pain sensation	HP:0040282	ORPHA:99014
5631	PRPS1	HP:0007258	Severe demyelination of the white matter	HP:0040281	ORPHA:1187
5631	PRPS1	HP:0003712	Skeletal muscle hypertrophy	HP:0040281	ORPHA:99014
5631	PRPS1	HP:0001271	Polyneuropathy	-	OMIM:311070
5631	PRPS1	HP:0001270	Motor delay	-	OMIM:311070
5631	PRPS1	HP:0001270	Motor delay	HP:0040282	ORPHA:1187
5631	PRPS1	HP:0001270	Motor delay	-	OMIM:300661
5631	PRPS1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:99014
5631	PRPS1	HP:0001288	Gait disturbance	-	OMIM:311070
5631	PRPS1	HP:0001285	Spastic tetraparesis	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0001284	Areflexia	HP:0040281	ORPHA:99014
5631	PRPS1	HP:0001284	Areflexia	HP:0040282	ORPHA:1187
5631	PRPS1	HP:0001284	Areflexia	-	OMIM:301835
5631	PRPS1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:1187
5631	PRPS1	HP:0001250	Seizure	-	OMIM:301835
5631	PRPS1	HP:0001252	Hypotonia	HP:0040282	ORPHA:411543
5631	PRPS1	HP:0001252	Hypotonia	3/3	OMIM:300661
5631	PRPS1	HP:0001251	Ataxia	HP:0040283	ORPHA:99014
5631	PRPS1	HP:0001251	Ataxia	-	OMIM:301835
5631	PRPS1	HP:0001251	Ataxia	HP:0040283	ORPHA:411543
5631	PRPS1	HP:0001251	Ataxia	HP:0040282	ORPHA:1187
5631	PRPS1	HP:0001251	Ataxia	-	OMIM:300661
5631	PRPS1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:411543
5631	PRPS1	HP:0001249	Intellectual disability	-	ORPHA:411536
5631	PRPS1	HP:0001249	Intellectual disability	-	OMIM:301835
5631	PRPS1	HP:0001249	Intellectual disability	-	OMIM:300661
5631	PRPS1	HP:0001260	Dysarthria	HP:0040283	ORPHA:99014
5631	PRPS1	HP:0001263	Global developmental delay	HP:0040284	ORPHA:411543
5631	PRPS1	HP:0001263	Global developmental delay	-	OMIM:301835
5631	PRPS1	HP:0001263	Global developmental delay	2/2	OMIM:300661
5631	PRPS1	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:99014
5631	PRPS1	HP:0007377	Abnormality of somatosensory evoked potentials	HP:0040281	ORPHA:1187
5631	PRPS1	HP:0002522	Areflexia of lower limbs	-	OMIM:311070
5631	PRPS1	HP:0003828	Variable expressivity	-	OMIM:311070
5631	PRPS1	HP:0002509	Limb hypertonia	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0003819	Death in childhood	1/1	OMIM:300661
5631	PRPS1	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:411543
5631	PRPS1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:411536
5631	PRPS1	HP:0000083	Renal insufficiency	-	OMIM:300661
5631	PRPS1	HP:0001369	Arthritis	HP:0040282	ORPHA:411543
5631	PRPS1	HP:0001369	Arthritis	HP:0040282	ORPHA:411536
5631	PRPS1	HP:0000047	Hypospadias	1/1	OMIM:300661
5631	PRPS1	HP:0001347	Hyperreflexia	HP:0040283	OMIM:301835
5631	PRPS1	HP:0000028	Cryptorchidism	1/1	OMIM:300661
5631	PRPS1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:99014
5631	PRPS1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:1187
5631	PRPS1	HP:0001344	Absent speech	-	OMIM:301835
5631	PRPS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5631	PRPS1	HP:0001337	Tremor	HP:0040283	ORPHA:99014
5631	PRPS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5631	PRPS1	HP:0002650	Scoliosis	HP:0040283	ORPHA:99014
5631	PRPS1	HP:0001319	Neonatal hypotonia	-	OMIM:301835
5631	PRPS1	HP:0032460	Decreased phosphoribosylpyrophosphate synthetase level	3/3	OMIM:311070
5631	PRPS1	HP:0000154	Wide mouth	1/1	OMIM:300661
5631	PRPS1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5631	PRPS1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5631	PRPS1	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:1187
5631	PRPS1	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0002788	Recurrent upper respiratory tract infections	HP:0040281	ORPHA:1187
5631	PRPS1	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:301835
5631	PRPS1	HP:0001419	X-linked recessive inheritance	-	OMIM:300661
5631	PRPS1	HP:0001419	X-linked recessive inheritance	-	OMIM:311070
5631	PRPS1	HP:0001419	X-linked recessive inheritance	-	OMIM:301835
5631	PRPS1	HP:0001419	X-linked recessive inheritance	-	OMIM:304500
5631	PRPS1	HP:0002719	Recurrent infections	HP:0040281	ORPHA:1187
5631	PRPS1	HP:0002719	Recurrent infections	1/1	OMIM:300661
5631	PRPS1	HP:0002719	Recurrent infections	-	OMIM:301835
5631	PRPS1	HP:0002721	Immunodeficiency	-	OMIM:301835
5631	PRPS1	HP:0002015	Dysphagia	-	OMIM:301835
5631	PRPS1	HP:0004639	Elevated amniotic fluid alpha-fetoprotein	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0003323	Progressive muscle weakness	-	OMIM:301835
5631	PRPS1	HP:0030927	1-minute APGAR score of 0	HP:0040283	ORPHA:423479
5631	PRPS1	HP:0030921	5-minute APGAR score of 1	HP:0040283	ORPHA:423479
5631	PRPS1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0003383	Onion bulb formation	-	OMIM:311070
5631	PRPS1	HP:0003477	Peripheral axonal neuropathy	1/1	OMIM:300661
5631	PRPS1	HP:0003487	Babinski sign	HP:0040283	ORPHA:423479
5631	PRPS1	HP:0003481	Segmental peripheral demyelination/remyelination	-	OMIM:311070
5631	PRPS1	HP:0002149	Hyperuricemia	HP:0040281	ORPHA:411543
5631	PRPS1	HP:0002149	Hyperuricemia	HP:0040281	ORPHA:411536
5631	PRPS1	HP:0002149	Hyperuricemia	9/9	OMIM:300661
5631	PRPS1	HP:0003431	Decreased motor nerve conduction velocity	HP:0040281	ORPHA:1187
5631	PRPS1	HP:0003444	EMG: chronic denervation signs	HP:0040281	ORPHA:1187
5631	PRPS1	HP:0011903	HbH hemoglobin	-	ORPHA:423479
5631	PRPS1	HP:0002187	Intellectual disability, profound	HP:0040281	ORPHA:423479
5631	PRPS1	HP:0002169	Clonus	HP:0040283	ORPHA:423479
5631	PRPS1	HP:0010536	Central sleep apnea	HP:0040283	ORPHA:423479
5631	PRPS1	HP:0003577	Congenital onset	1/1	OMIM:300661
5631	PRPS1	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040282	ORPHA:1187
5631	PRPS1	HP:0002205	Recurrent respiratory infections	HP:0040284	ORPHA:411543
5631	PRPS1	HP:0003537	Hypouricemia	HP:0040282	ORPHA:1187
5631	PRPS1	HP:0008311	Spinal cord posterior columns myelin loss	HP:0040282	ORPHA:1187
5631	PRPS1	HP:0008311	Spinal cord posterior columns myelin loss	-	OMIM:301835
5631	PRPS1	HP:0020074	Crystalluria	HP:0040282	ORPHA:411543
5631	PRPS1	HP:0020074	Crystalluria	HP:0040282	ORPHA:411536
5631	PRPS1	HP:0002385	Paraparesis	HP:0040283	ORPHA:99014
5631	PRPS1	HP:0003693	Distal amyotrophy	-	OMIM:311070
5631	PRPS1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:1187
5631	PRPS1	HP:0008527	Congenital sensorineural hearing impairment	HP:0040281	ORPHA:1187
5631	PRPS1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:411543
5631	PRPS1	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:99014
5631	PRPS1	HP:0009830	Peripheral neuropathy	-	ORPHA:411536
5631	PRPS1	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:1187
5631	PRPS1	HP:0009830	Peripheral neuropathy	1/1	OMIM:300661
5631	PRPS1	HP:0009830	Peripheral neuropathy	-	OMIM:301835
5631	PRPS1	HP:0032169	Severe infection	HP:0040281	ORPHA:1187
5631	PRPS1	HP:0002300	Mutism	HP:0040281	ORPHA:1187
5631	PRPS1	HP:0002307	Drooling	-	OMIM:301835
5631	PRPS1	HP:0003621	Juvenile onset	8/19	OMIM:180100
5631	PRPS1	HP:0007178	Motor polyneuropathy	HP:0040283	ORPHA:411543
5631	PRPS1	HP:0006801	Hyperactive deep tendon reflexes	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0012626	Stage 4 chronic kidney disease	HP:0040283	ORPHA:411536
5631	PRPS1	HP:0000639	Nystagmus	-	OMIM:301835
5631	PRPS1	HP:0000639	Nystagmus	HP:0040282	ORPHA:1187
5631	PRPS1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:99014
5631	PRPS1	HP:0000648	Optic atrophy	-	OMIM:301835
5631	PRPS1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:1187
5631	PRPS1	HP:0000648	Optic atrophy	-	OMIM:311070
5631	PRPS1	HP:0000618	Blindness	HP:0040281	ORPHA:1187
5631	PRPS1	HP:0000601	Hypotelorism	1/1	OMIM:300661
5631	PRPS1	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:411543
5631	PRPS1	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:411536
5631	PRPS1	HP:0000662	Nyctalopia	26/28	OMIM:180100
5631	PRPS1	HP:0001999	Abnormal facial shape	-	ORPHA:411536
5631	PRPS1	HP:0001997	Gout	-	OMIM:300661
5631	PRPS1	HP:0001997	Gout	HP:0040281	ORPHA:411543
5631	PRPS1	HP:0004322	Short stature	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0004322	Short stature	2/2	OMIM:300661
5631	PRPS1	HP:0012736	Profound global developmental delay	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0000763	Sensory neuropathy	HP:0040281	ORPHA:99014
5631	PRPS1	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:411543
5631	PRPS1	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:411536
5631	PRPS1	HP:0011476	Profound sensorineural hearing impairment	HP:0040282	ORPHA:1187
5631	PRPS1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0011463	Childhood onset	3/19	OMIM:180100
5631	PRPS1	HP:0011463	Childhood onset	-	OMIM:311070
5631	PRPS1	HP:0011462	Young adult onset	8/19	OMIM:180100
5631	PRPS1	HP:0000791	Uric acid nephrolithiasis	HP:0040281	ORPHA:411543
5631	PRPS1	HP:0000791	Uric acid nephrolithiasis	HP:0040282	ORPHA:411536
5631	PRPS1	HP:0000791	Uric acid nephrolithiasis	-	OMIM:300661
5631	PRPS1	HP:0012759	Neurodevelopmental abnormality	HP:0040281	ORPHA:411543
5631	PRPS1	HP:0040129	Abnormal nerve conduction velocity	HP:0040281	ORPHA:99014
5631	PRPS1	HP:0003196	Short nose	1/1	OMIM:300661
5631	PRPS1	HP:0003149	Hyperuricosuria	-	OMIM:300661
5631	PRPS1	HP:0003149	Hyperuricosuria	HP:0040282	ORPHA:411543
5631	PRPS1	HP:0003149	Hyperuricosuria	HP:0040281	ORPHA:411536
5631	PRPS1	HP:0000873	Diabetes insipidus	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0003240	Increased phosphoribosylpyrophosphate synthetase level	HP:0040281	ORPHA:411543
5631	PRPS1	HP:0003240	Increased phosphoribosylpyrophosphate synthetase level	HP:0040281	ORPHA:411536
5631	PRPS1	HP:0003240	Increased phosphoribosylpyrophosphate synthetase level	7/7	OMIM:300661
5631	PRPS1	HP:0034368	Urolithiasis	1/1	OMIM:300661
5631	PRPS1	HP:0008070	Sparse hair	1/1	OMIM:300661
5631	PRPS1	HP:0008058	Aplasia/Hypoplasia of the optic nerve	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0000286	Epicanthus	3/3	OMIM:300661
5631	PRPS1	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5631	PRPS1	HP:0002808	Kyphosis	HP:0040283	ORPHA:99014
5631	PRPS1	HP:0000218	High palate	1/1	OMIM:300661
5631	PRPS1	HP:0001525	Severe failure to thrive	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0001522	Death in infancy	-	OMIM:301835
5631	PRPS1	HP:0001518	Small for gestational age	1/1	OMIM:300661
5631	PRPS1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0001510	Growth delay	-	OMIM:301835
5631	PRPS1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5631	PRPS1	HP:0012389	Appendicular hypotonia	HP:0040282	ORPHA:1187
5631	PRPS1	HP:0006579	Prolonged neonatal jaundice	HP:0040283	ORPHA:423479
5631	PRPS1	HP:0002936	Distal sensory impairment	1/5	OMIM:311070
5631	PRPS1	HP:0000365	Hearing impairment	HP:0040281	ORPHA:99014
5631	PRPS1	HP:0000365	Hearing impairment	-	OMIM:301835
5631	PRPS1	HP:0000365	Hearing impairment	5/5	OMIM:311070
5631	PRPS1	HP:0000365	Hearing impairment	2/2	OMIM:300661
5631	PRPS1	HP:0000369	Low-set ears	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0000369	Low-set ears	2/2	OMIM:300661
5631	PRPS1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0000325	Triangular face	1/1	OMIM:300661
5631	PRPS1	HP:0007965	Undetectable visual evoked potentials	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0011185	EEG with focal epileptiform discharges	HP:0040282	ORPHA:1187
5631	PRPS1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:411543
5631	PRPS1	HP:0000407	Sensorineural hearing impairment	-	ORPHA:411536
5631	PRPS1	HP:0000407	Sensorineural hearing impairment	-	OMIM:311070
5631	PRPS1	HP:0000407	Sensorineural hearing impairment	-	OMIM:304500
5631	PRPS1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0000407	Sensorineural hearing impairment	-	OMIM:300661
5631	PRPS1	HP:0005280	Depressed nasal bridge	1/1	OMIM:300661
5631	PRPS1	HP:0000486	Strabismus	1/1	OMIM:300661
5631	PRPS1	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0000478	Abnormality of the eye	-	ORPHA:411536
5631	PRPS1	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:300661
5631	PRPS1	HP:0000490	Deeply set eye	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0012448	Delayed myelination	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0000467	Neck muscle weakness	HP:0040282	ORPHA:1187
5631	PRPS1	HP:0030272	Abnormal erythrocyte enzyme concentration or activity	HP:0040281	ORPHA:1187
5631	PRPS1	HP:0000444	Convex nasal ridge	1/1	OMIM:300661
5631	PRPS1	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0001761	Pes cavus	HP:0040281	ORPHA:99014
5631	PRPS1	HP:0001761	Pes cavus	-	OMIM:311070
5631	PRPS1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5631	PRPS1	HP:0000510	Rod-cone dystrophy	HP:0040283	OMIM:311070
5631	PRPS1	HP:0000529	Progressive visual loss	5/5	OMIM:311070
5631	PRPS1	HP:0000508	Ptosis	1/1	OMIM:300661
5631	PRPS1	HP:0000505	Visual impairment	HP:0040281	ORPHA:1187
5631	PRPS1	HP:0000501	Glaucoma	HP:0040284	ORPHA:411543
5631	PRPS1	HP:0000501	Glaucoma	1/1	OMIM:300661
5631	PRPS1	HP:0000575	Scotoma	5/18	OMIM:180100
5631	PRPS1	HP:0000577	Exotropia	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0011220	Prominent forehead	2/2	OMIM:300661
5631	PRPS1	HP:0000556	Retinal dystrophy	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0000572	Visual loss	-	OMIM:301835
5631	PRPS1	HP:0000540	Hypermetropia	1/1	OMIM:300661
5631	PRPS1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:423479
5631	PRPS1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5631	PRPS1	HP:0000545	Myopia	-	OMIM:180100
5631	PRPS1	HP:0000545	Myopia	HP:0040284	ORPHA:411543
5631	PRPS1	HP:0000545	Myopia	1/1	OMIM:300661
5644	PRSS1	HP:0002570	Steatorrhea	-	OMIM:167800
5644	PRSS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:167800
5644	PRSS1	HP:0002027	Abdominal pain	-	OMIM:167800
5644	PRSS1	HP:0002027	Abdominal pain	HP:0040281	ORPHA:676
5644	PRSS1	HP:0002202	Pleural effusion	-	OMIM:167800
5644	PRSS1	HP:0001977	Abnormal thrombosis	-	OMIM:167800
5644	PRSS1	HP:0001974	Increased total leukocyte count	HP:0040281	ORPHA:676
5644	PRSS1	HP:0001945	Fever	-	OMIM:167800
5644	PRSS1	HP:0100027	Recurrent pancreatitis	HP:0040281	ORPHA:676
5644	PRSS1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:676
5644	PRSS1	HP:0000819	Diabetes mellitus	-	OMIM:167800
5644	PRSS1	HP:0000952	Jaundice	HP:0040283	ORPHA:676
5644	PRSS1	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040282	ORPHA:676
5644	PRSS1	HP:0005213	Pancreatic calcification	HP:0040283	ORPHA:676
5644	PRSS1	HP:0005213	Pancreatic calcification	-	OMIM:167800
5644	PRSS1	HP:0005206	Pancreatic pseudocyst	-	OMIM:167800
5644	PRSS1	HP:0001738	Exocrine pancreatic insufficiency	-	OMIM:167800
5644	PRSS1	HP:0001733	Pancreatitis	-	OMIM:167800
5644	PRSS1	HP:0030247	Splanchnic vein thrombosis	HP:0040283	ORPHA:676
5644	PRSS1	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040281	ORPHA:676
5645	PRSS2	HP:0002570	Steatorrhea	-	OMIM:167800
5645	PRSS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:167800
5645	PRSS2	HP:0002027	Abdominal pain	-	OMIM:167800
5645	PRSS2	HP:0002027	Abdominal pain	HP:0040281	ORPHA:676
5645	PRSS2	HP:0002202	Pleural effusion	-	OMIM:167800
5645	PRSS2	HP:0001977	Abnormal thrombosis	-	OMIM:167800
5645	PRSS2	HP:0001974	Increased total leukocyte count	HP:0040281	ORPHA:676
5645	PRSS2	HP:0001945	Fever	-	OMIM:167800
5645	PRSS2	HP:0100027	Recurrent pancreatitis	HP:0040281	ORPHA:676
5645	PRSS2	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:676
5645	PRSS2	HP:0000819	Diabetes mellitus	-	OMIM:167800
5645	PRSS2	HP:0000952	Jaundice	HP:0040283	ORPHA:676
5645	PRSS2	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040282	ORPHA:676
5645	PRSS2	HP:0005213	Pancreatic calcification	HP:0040283	ORPHA:676
5645	PRSS2	HP:0005213	Pancreatic calcification	-	OMIM:167800
5645	PRSS2	HP:0005206	Pancreatic pseudocyst	-	OMIM:167800
5645	PRSS2	HP:0001738	Exocrine pancreatic insufficiency	-	OMIM:167800
5645	PRSS2	HP:0001733	Pancreatitis	-	OMIM:167800
5645	PRSS2	HP:0030247	Splanchnic vein thrombosis	HP:0040283	ORPHA:676
5645	PRSS2	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040281	ORPHA:676
5648	MASP1	HP:0009891	Underdeveloped supraorbital ridges	-	OMIM:257920
5648	MASP1	HP:0001256	Intellectual disability, mild	3/3	OMIM:257920
5648	MASP1	HP:0001249	Intellectual disability	0/6	OMIM:257920
5648	MASP1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:293843
5648	MASP1	HP:0002558	Supernumerary nipple	-	OMIM:257920
5648	MASP1	HP:0002558	Supernumerary nipple	HP:0040282	ORPHA:293843
5648	MASP1	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:293843
5648	MASP1	HP:0002553	Highly arched eyebrow	9/9	OMIM:257920
5648	MASP1	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:293843
5648	MASP1	HP:0002678	Skull asymmetry	1/6	OMIM:257920
5648	MASP1	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:293843
5648	MASP1	HP:0008897	Postnatal growth retardation	3/6	OMIM:257920
5648	MASP1	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:293843
5648	MASP1	HP:0006216	Single interphalangeal crease of fifth finger	-	OMIM:257920
5648	MASP1	HP:6000808	Periumbilical depression	1/1	OMIM:257920
5648	MASP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:257920
5648	MASP1	HP:0002650	Scoliosis	HP:0040282	ORPHA:293843
5648	MASP1	HP:0000175	Cleft palate	4/6	OMIM:257920
5648	MASP1	HP:0410030	Cleft lip	4/6	OMIM:257920
5648	MASP1	HP:0000126	Hydronephrosis	-	OMIM:257920
5648	MASP1	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:293843
5648	MASP1	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:293843
5648	MASP1	HP:0002265	Large fleshy ears	HP:0040282	ORPHA:293843
5648	MASP1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:257920
5648	MASP1	HP:0004298	Abnormality of the abdominal wall	-	OMIM:257920
5648	MASP1	HP:0000678	Dental crowding	-	OMIM:257920
5648	MASP1	HP:0000664	Synophrys	1/3	OMIM:257920
5648	MASP1	HP:0004443	Lambdoidal craniosynostosis	-	OMIM:257920
5648	MASP1	HP:0004440	Coronal craniosynostosis	-	OMIM:257920
5648	MASP1	HP:0040016	Prominent coccyx	HP:0040283	ORPHA:293843
5648	MASP1	HP:0009237	Short 5th finger	-	OMIM:257920
5648	MASP1	HP:0003298	Spina bifida occulta	-	OMIM:257920
5648	MASP1	HP:0003298	Spina bifida occulta	HP:0040282	ORPHA:293843
5648	MASP1	HP:0000960	Sacral dimple	-	OMIM:257920
5648	MASP1	HP:0000260	Wide anterior fontanel	-	OMIM:257920
5648	MASP1	HP:0005105	Abnormal nasal morphology	HP:0040283	ORPHA:293843
5648	MASP1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:293843
5648	MASP1	HP:0002825	Caudal appendage	7/9	OMIM:257920
5648	MASP1	HP:0002825	Caudal appendage	HP:0040283	ORPHA:293843
5648	MASP1	HP:0006394	Limited pronation/supination of forearm	HP:0040281	ORPHA:293843
5648	MASP1	HP:0000252	Microcephaly	-	OMIM:257920
5648	MASP1	HP:0001540	Diastasis recti	0/6	OMIM:257920
5648	MASP1	HP:0001540	Diastasis recti	HP:0040282	ORPHA:293843
5648	MASP1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:293843
5648	MASP1	HP:0001539	Omphalocele	0/3	OMIM:257920
5648	MASP1	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:293843
5648	MASP1	HP:0000204	Cleft upper lip	0/3	OMIM:257920
5648	MASP1	HP:0001510	Growth delay	-	OMIM:257920
5648	MASP1	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:293843
5648	MASP1	HP:0000365	Hearing impairment	5/6	OMIM:257920
5648	MASP1	HP:0000365	Hearing impairment	HP:0040281	ORPHA:293843
5648	MASP1	HP:0000369	Low-set ears	HP:0040283	ORPHA:293843
5648	MASP1	HP:0000316	Hypertelorism	6/9	OMIM:257920
5648	MASP1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:293843
5648	MASP1	HP:0001643	Patent ductus arteriosus	-	OMIM:257920
5648	MASP1	HP:0002974	Radioulnar synostosis	-	OMIM:257920
5648	MASP1	HP:0002974	Radioulnar synostosis	HP:0040281	ORPHA:293843
5648	MASP1	HP:0001629	Ventricular septal defect	-	OMIM:257920
5648	MASP1	HP:0001631	Atrial septal defect	-	OMIM:257920
5648	MASP1	HP:0000405	Conductive hearing impairment	2/3	OMIM:257920
5648	MASP1	HP:0000494	Downslanted palpebral fissures	3/3	OMIM:257920
5648	MASP1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:293843
5648	MASP1	HP:0000496	Abnormality of eye movement	-	OMIM:257920
5648	MASP1	HP:0001773	Short foot	-	OMIM:257920
5648	MASP1	HP:0001769	Broad foot	-	OMIM:257920
5648	MASP1	HP:0000524	Conjunctival telangiectasia	-	OMIM:257920
5648	MASP1	HP:0000506	Telecanthus	2/3	OMIM:257920
5648	MASP1	HP:0000506	Telecanthus	HP:0040282	ORPHA:293843
5648	MASP1	HP:0000508	Ptosis	9/9	OMIM:257920
5648	MASP1	HP:0000508	Ptosis	HP:0040281	ORPHA:293843
5648	MASP1	HP:0000501	Glaucoma	-	OMIM:257920
5648	MASP1	HP:0000581	Blepharophimosis	3/9	OMIM:257920
5648	MASP1	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:293843
5648	MASP1	HP:0000593	Abnormal anterior chamber morphology	-	OMIM:257920
5648	MASP1	HP:0000593	Abnormal anterior chamber morphology	HP:0040282	ORPHA:293843
5648	MASP1	HP:0000537	Epicanthus inversus	-	OMIM:257920
5648	MASP1	HP:0000537	Epicanthus inversus	HP:0040281	ORPHA:293843
5649	RELN	HP:0001181	Adducted thumb	HP:0040283	ORPHA:89844
5649	RELN	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:89844
5649	RELN	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:89844
5649	RELN	HP:0001250	Seizure	HP:0040282	ORPHA:89844
5649	RELN	HP:0001252	Hypotonia	6/6	OMIM:257320
5649	RELN	HP:0001249	Intellectual disability	-	ORPHA:101046
5649	RELN	HP:0001249	Intellectual disability	HP:0040281	ORPHA:89844
5649	RELN	HP:0001263	Global developmental delay	6/6	OMIM:257320
5649	RELN	HP:0008765	Auditory hallucination	HP:0040281	ORPHA:101046
5649	RELN	HP:0410263	Brain imaging abnormality	-	ORPHA:101046
5649	RELN	HP:0007359	Focal-onset seizure	HP:0040281	ORPHA:101046
5649	RELN	HP:0007334	Bilateral tonic-clonic seizure with focal onset	12/18	OMIM:600512
5649	RELN	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040284	ORPHA:101046
5649	RELN	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:89844
5649	RELN	HP:0003829	Typified by incomplete penetrance	-	OMIM:616436
5649	RELN	HP:0003808	Abnormal muscle tone	HP:0040282	ORPHA:89844
5649	RELN	HP:0002683	Abnormal calvaria morphology	HP:0040282	ORPHA:89844
5649	RELN	HP:0012005	Deja vu aura	1/11	OMIM:600512
5649	RELN	HP:0001339	Lissencephaly	6/6	OMIM:257320
5649	RELN	HP:0000007	Autosomal recessive inheritance	-	OMIM:257320
5649	RELN	HP:0000006	Autosomal dominant inheritance	-	OMIM:616436
5649	RELN	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
5649	RELN	HP:0000006	Autosomal dominant inheritance	-	OMIM:600512
5649	RELN	HP:0001321	Cerebellar hypoplasia	-	OMIM:257320
5649	RELN	HP:0002619	Varicose veins	-	OMIM:153400
5649	RELN	HP:0000175	Cleft palate	5/39	OMIM:153400
5649	RELN	HP:0006270	Hypoplastic spleen	HP:0040283	ORPHA:89844
5649	RELN	HP:0012110	Hypoplasia of the pons	-	OMIM:257320
5649	RELN	HP:0002015	Dysphagia	HP:0040283	ORPHA:89844
5649	RELN	HP:0002098	Respiratory distress	HP:0040283	ORPHA:89844
5649	RELN	HP:0002069	Bilateral tonic-clonic seizure	12/12	OMIM:600512
5649	RELN	HP:0002069	Bilateral tonic-clonic seizure	HP:0040284	ORPHA:101046
5649	RELN	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:89844
5649	RELN	HP:0002076	Migraine	HP:0040284	ORPHA:101046
5649	RELN	HP:0002197	Generalized-onset seizure	-	OMIM:257320
5649	RELN	HP:0002197	Generalized-onset seizure	HP:0040284	ORPHA:101046
5649	RELN	HP:0003596	Middle age onset	1/12	OMIM:600512
5649	RELN	HP:0002266	Focal clonic seizure	1/11	OMIM:600512
5649	RELN	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:89844
5649	RELN	HP:0100710	Impulsivity	HP:0040284	ORPHA:101046
5649	RELN	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
5649	RELN	HP:0009743	Distichiasis	42/42	OMIM:153400
5649	RELN	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:89844
5649	RELN	HP:0002384	Focal impaired awareness seizure	6/18	OMIM:600512
5649	RELN	HP:0002381	Aphasia	HP:0040282	ORPHA:101046
5649	RELN	HP:0002367	Visual hallucination	HP:0040283	ORPHA:101046
5649	RELN	HP:0001004	Lymphedema	-	OMIM:257320
5649	RELN	HP:0001004	Lymphedema	-	OMIM:153400
5649	RELN	HP:0002349	Focal aware seizure	15/30	OMIM:600512
5649	RELN	HP:0002349	Focal aware seizure	HP:0040283	ORPHA:101046
5649	RELN	HP:0100658	Cellulitis	2/6	OMIM:153400
5649	RELN	HP:0003621	Juvenile onset	4/12	OMIM:600512
5649	RELN	HP:0006818	4-layered lissencephaly	HP:0040281	ORPHA:89844
5649	RELN	HP:0006818	4-layered lissencephaly	-	OMIM:257320
5649	RELN	HP:0006891	Thick cerebral cortex	-	OMIM:257320
5649	RELN	HP:0000613	Photophobia	10/49	OMIM:153400
5649	RELN	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
5649	RELN	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:89844
5649	RELN	HP:0000656	Ectropion	2/43	OMIM:153400
5649	RELN	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:89844
5649	RELN	HP:0031951	Nocturnal seizures	HP:0040283	ORPHA:101046
5649	RELN	HP:0003011	Abnormality of the musculature	-	OMIM:153400
5649	RELN	HP:0012736	Profound global developmental delay	HP:0040282	ORPHA:89844
5649	RELN	HP:0000716	Depression	HP:0040284	ORPHA:101046
5649	RELN	HP:0000708	Atypical behavior	HP:0040284	ORPHA:101046
5649	RELN	HP:0011462	Young adult onset	7/12	OMIM:600512
5649	RELN	HP:0011451	Primary microcephaly	HP:0040281	ORPHA:89844
5649	RELN	HP:0012804	Corneal ulceration	-	OMIM:153400
5649	RELN	HP:0045028	Microlissencephaly	HP:0040281	ORPHA:89844
5649	RELN	HP:0010310	Chylothorax	1/6	OMIM:153400
5649	RELN	HP:0011675	Arrhythmia	-	OMIM:153400
5649	RELN	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:89844
5649	RELN	HP:0000269	Prominent occiput	HP:0040282	ORPHA:89844
5649	RELN	HP:0002808	Kyphosis	2/5	OMIM:153400
5649	RELN	HP:0000252	Microcephaly	-	OMIM:257320
5649	RELN	HP:0000204	Cleft upper lip	-	OMIM:153400
5649	RELN	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:89844
5649	RELN	HP:0032810	Focal sensory seizure with cephalic sensation	3/11	OMIM:600512
5649	RELN	HP:0032864	Focal aware sensory seizure with auditory features	4/12	OMIM:600512
5649	RELN	HP:0032759	Focal sensory seizure with vestibular features	1/11	OMIM:600512
5649	RELN	HP:0000369	Low-set ears	HP:0040282	ORPHA:89844
5649	RELN	HP:0000341	Narrow forehead	HP:0040282	ORPHA:89844
5649	RELN	HP:0000340	Sloping forehead	HP:0040282	ORPHA:89844
5649	RELN	HP:0000340	Sloping forehead	-	OMIM:257320
5649	RELN	HP:0032773	Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole	1/11	OMIM:600512
5649	RELN	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101046
5649	RELN	HP:0000350	Small forehead	HP:0040282	ORPHA:89844
5649	RELN	HP:0000347	Micrognathia	2/5	OMIM:153400
5649	RELN	HP:0000316	Hypertelorism	HP:0040281	ORPHA:89844
5649	RELN	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
5649	RELN	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:89844
5649	RELN	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
5649	RELN	HP:0000308	Microretrognathia	HP:0040282	ORPHA:89844
5649	RELN	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
5649	RELN	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:89844
5649	RELN	HP:0011185	EEG with focal epileptiform discharges	HP:0040281	ORPHA:101046
5649	RELN	HP:0011182	Interictal epileptiform activity	HP:0040282	ORPHA:101046
5649	RELN	HP:0011159	Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	4/11	OMIM:600512
5649	RELN	HP:0011158	Focal sensory seizure with auditory features	-	OMIM:616436
5649	RELN	HP:0011158	Focal sensory seizure with auditory features	13/29	OMIM:600512
5649	RELN	HP:0011161	Focal sensory seizure with olfactory features	1/11	OMIM:600512
5649	RELN	HP:0011165	Focal sensory seizure with visual features	2/11	OMIM:600512
5649	RELN	HP:0011154	Focal autonomic seizure	HP:0040283	ORPHA:101046
5649	RELN	HP:0000476	Cystic hygroma	2/43	OMIM:153400
5649	RELN	HP:0000479	Abnormal retinal morphology	HP:0040283	ORPHA:89844
5649	RELN	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
5649	RELN	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
5649	RELN	HP:0032898	Focal automatism seizure	1/11	OMIM:600512
5649	RELN	HP:0000465	Webbed neck	6/43	OMIM:153400
5649	RELN	HP:0000445	Wide nose	HP:0040282	ORPHA:89844
5649	RELN	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:89844
5649	RELN	HP:0000426	Prominent nasal bridge	-	OMIM:257320
5649	RELN	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:89844
5649	RELN	HP:0000509	Conjunctivitis	-	OMIM:153400
5649	RELN	HP:0000508	Ptosis	2/39	OMIM:153400
5649	RELN	HP:0000568	Microphthalmia	1/6	OMIM:153400
5651	TMPRSS15	HP:0000007	Autosomal recessive inheritance	-	OMIM:226200
5651	TMPRSS15	HP:0007609	Hypoproteinemic edema	-	OMIM:226200
5651	TMPRSS15	HP:0002014	Diarrhea	-	OMIM:226200
5651	TMPRSS15	HP:0003075	Hypoproteinemia	-	OMIM:226200
5651	TMPRSS15	HP:0001508	Failure to thrive	-	OMIM:226200
5654	HTRA1	HP:0002497	Spastic ataxia	HP:0040282	ORPHA:199354
5654	HTRA1	HP:0002448	Progressive encephalopathy	-	OMIM:600142
5654	HTRA1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:199354
5654	HTRA1	HP:0007256	Abnormal pyramidal sign	6/6	OMIM:600142
5654	HTRA1	HP:0007236	Recurrent subcortical infarcts	-	OMIM:616779
5654	HTRA1	HP:0002401	Stroke-like episode	HP:0040282	ORPHA:199354
5654	HTRA1	HP:0001297	Stroke	HP:0040283	ORPHA:199354
5654	HTRA1	HP:0001297	Stroke	6/11	OMIM:616779
5654	HTRA1	HP:0001297	Stroke	3/7	OMIM:600142
5654	HTRA1	HP:0001269	Hemiparesis	HP:0040283	ORPHA:199354
5654	HTRA1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:199354
5654	HTRA1	HP:0001268	Mental deterioration	-	OMIM:616779
5654	HTRA1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:199354
5654	HTRA1	HP:0001288	Gait disturbance	6/6	OMIM:600142
5654	HTRA1	HP:0001288	Gait disturbance	6/10	OMIM:616779
5654	HTRA1	HP:0001250	Seizure	1/11	OMIM:616779
5654	HTRA1	HP:0001251	Ataxia	-	OMIM:600142
5654	HTRA1	HP:0001260	Dysarthria	-	OMIM:600142
5654	HTRA1	HP:0001257	Spasticity	HP:0040282	ORPHA:199354
5654	HTRA1	HP:0001257	Spasticity	-	OMIM:600142
5654	HTRA1	HP:0010982	Polygenic inheritance	-	OMIM:610149
5654	HTRA1	HP:0032325	Lacunar stroke	1/1	OMIM:600142
5654	HTRA1	HP:0032325	Lacunar stroke	10/11	OMIM:616779
5654	HTRA1	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:199354
5654	HTRA1	HP:0000020	Urinary incontinence	1/1	OMIM:600142
5654	HTRA1	HP:0001347	Hyperreflexia	-	OMIM:600142
5654	HTRA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:600142
5654	HTRA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616779
5654	HTRA1	HP:0001310	Dysmetria	1/1	OMIM:600142
5654	HTRA1	HP:0002634	Arteriosclerosis	HP:0040282	ORPHA:199354
5654	HTRA1	HP:0002607	Bowel incontinence	1/1	OMIM:600142
5654	HTRA1	HP:0002751	Kyphoscoliosis	HP:0040284	ORPHA:199354
5654	HTRA1	HP:0100546	Carotid artery stenosis	1/1	OMIM:600142
5654	HTRA1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:199354
5654	HTRA1	HP:0100543	Cognitive impairment	5/10	OMIM:616779
5654	HTRA1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040284	ORPHA:199354
5654	HTRA1	HP:0002063	Rigidity	HP:0040283	ORPHA:199354
5654	HTRA1	HP:0002063	Rigidity	-	OMIM:600142
5654	HTRA1	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:600142
5654	HTRA1	HP:0003474	Somatic sensory dysfunction	HP:0040283	ORPHA:199354
5654	HTRA1	HP:0003487	Babinski sign	-	OMIM:600142
5654	HTRA1	HP:0003419	Low back pain	-	OMIM:600142
5654	HTRA1	HP:0003418	Back pain	HP:0040282	ORPHA:199354
5654	HTRA1	HP:0010521	Gait apraxia	1/1	OMIM:600142
5654	HTRA1	HP:0003596	Middle age onset	1/1	OMIM:600142
5654	HTRA1	HP:0003596	Middle age onset	3/8	OMIM:616779
5654	HTRA1	HP:0003584	Late onset	5/8	OMIM:616779
5654	HTRA1	HP:0002200	Pseudobulbar signs	6/6	OMIM:600142
5654	HTRA1	HP:0002293	Alopecia of scalp	HP:0040283	ORPHA:199354
5654	HTRA1	HP:0007024	Pseudobulbar paralysis	HP:0040282	ORPHA:199354
5654	HTRA1	HP:0002381	Aphasia	1/1	OMIM:600142
5654	HTRA1	HP:0025012	Status cribrosum	7/8	OMIM:616779
5654	HTRA1	HP:0002352	Leukoencephalopathy	1/1	OMIM:600142
5654	HTRA1	HP:0002315	Headache	2/11	OMIM:616779
5654	HTRA1	HP:0003657	Vascular granular osmiophilic material deposition	-	ORPHA:199354
5654	HTRA1	HP:0002326	Transient ischemic attack	1/1	OMIM:600142
5654	HTRA1	HP:0002326	Transient ischemic attack	6/11	OMIM:616779
5654	HTRA1	HP:0007204	Diffuse white matter abnormalities	6/6	OMIM:600142
5654	HTRA1	HP:0007162	Diffuse demyelination of the cerebral white matter	-	OMIM:600142
5654	HTRA1	HP:0008480	Cervical spondylosis	HP:0040282	ORPHA:199354
5654	HTRA1	HP:0004931	Arteriosclerosis of small cerebral arteries	1/1	OMIM:600142
5654	HTRA1	HP:0003621	Juvenile onset	5/6	OMIM:600142
5654	HTRA1	HP:0000639	Nystagmus	HP:0040283	OMIM:600142
5654	HTRA1	HP:0000608	Macular degeneration	-	OMIM:610149
5654	HTRA1	HP:0012671	Abulia	HP:0040283	ORPHA:199354
5654	HTRA1	HP:0012672	Akinetic mutism	HP:0040283	ORPHA:199354
5654	HTRA1	HP:0000738	Hallucinations	1/1	OMIM:600142
5654	HTRA1	HP:0000737	Irritability	HP:0040283	ORPHA:199354
5654	HTRA1	HP:0000739	Anxiety	1/1	OMIM:600142
5654	HTRA1	HP:0000746	Delusion	1/1	OMIM:600142
5654	HTRA1	HP:0000741	Apathy	HP:0040283	ORPHA:199354
5654	HTRA1	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:199354
5654	HTRA1	HP:0000712	Emotional lability	HP:0040283	ORPHA:199354
5654	HTRA1	HP:0000726	Dementia	HP:0040283	ORPHA:199354
5654	HTRA1	HP:0000726	Dementia	6/7	OMIM:600142
5654	HTRA1	HP:0000726	Dementia	1/11	OMIM:616779
5654	HTRA1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:199354
5654	HTRA1	HP:0000822	Hypertension	5/11	OMIM:616779
5654	HTRA1	HP:0030890	Hyperintensity of cerebral white matter on MRI	11/11	OMIM:616779
5654	HTRA1	HP:0030892	Deep cerebral white matter hyperintensities	HP:0040282	ORPHA:199354
5654	HTRA1	HP:0030833	Neck pain	HP:0040283	ORPHA:199354
5654	HTRA1	HP:0040161	Localized osteoporosis	HP:0040282	ORPHA:199354
5654	HTRA1	HP:0001596	Alopecia	5/6	OMIM:600142
5654	HTRA1	HP:0012444	Brain atrophy	1/1	OMIM:600142
5654	HTRA1	HP:0025708	Early young adult onset	1/6	OMIM:600142
5654	HTRA1	HP:0012514	Lower limb pain	HP:0040282	ORPHA:199354
5654	HTRA1	HP:0012520	Dilation of Virchow-Robin spaces	-	OMIM:616779
5657	PRTN3	HP:0033557	Anti-proteinase 3 antibody positivity	HP:0040282	ORPHA:900
5657	PRTN3	HP:0033559	Anti-myeloperoxidase antibody positivity	HP:0040282	ORPHA:900
5657	PRTN3	HP:0032230	Cytoplasmic antineutrophil antibody positivity	HP:0040282	ORPHA:900
5657	PRTN3	HP:0100820	Glomerulopathy	HP:0040281	ORPHA:900
5657	PRTN3	HP:0001287	Meningitis	HP:0040283	ORPHA:900
5657	PRTN3	HP:0001250	Seizure	HP:0040283	ORPHA:900
5657	PRTN3	HP:0033608	Pulmonary nodule	HP:0040283	ORPHA:900
5657	PRTN3	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:900
5657	PRTN3	HP:0000099	Glomerulonephritis	HP:0040282	ORPHA:900
5657	PRTN3	HP:0000093	Proteinuria	HP:0040282	ORPHA:900
5657	PRTN3	HP:0000071	Ureteral stenosis	HP:0040283	ORPHA:900
5657	PRTN3	HP:0001369	Arthritis	HP:0040282	ORPHA:900
5657	PRTN3	HP:0000024	Prostatitis	HP:0040283	ORPHA:900
5657	PRTN3	HP:0002637	Cerebral ischemia	HP:0040281	ORPHA:900
5657	PRTN3	HP:0002633	Vasculitis	HP:0040281	ORPHA:900
5657	PRTN3	HP:0000163	Abnormal oral cavity morphology	HP:0040281	ORPHA:900
5657	PRTN3	HP:0025420	Diffuse alveolar hemorrhage	HP:0040283	ORPHA:900
5657	PRTN3	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:900
5657	PRTN3	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:900
5657	PRTN3	HP:0002027	Abdominal pain	HP:0040282	ORPHA:900
5657	PRTN3	HP:0003326	Myalgia	HP:0040283	ORPHA:900
5657	PRTN3	HP:0100532	Scleritis	HP:0040282	ORPHA:900
5657	PRTN3	HP:0100533	Inflammatory abnormality of the eye	HP:0040282	ORPHA:900
5657	PRTN3	HP:0100539	Periorbital edema	HP:0040282	ORPHA:900
5657	PRTN3	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:900
5657	PRTN3	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:900
5657	PRTN3	HP:0002102	Pleuritis	HP:0040283	ORPHA:900
5657	PRTN3	HP:0002113	Pulmonary infiltrates	HP:0040281	ORPHA:900
5657	PRTN3	HP:0002105	Hemoptysis	HP:0040282	ORPHA:900
5657	PRTN3	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:900
5657	PRTN3	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:900
5657	PRTN3	HP:0002202	Pleural effusion	HP:0040283	ORPHA:900
5657	PRTN3	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:900
5657	PRTN3	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:900
5657	PRTN3	HP:0100749	Chest pain	HP:0040282	ORPHA:900
5657	PRTN3	HP:0100758	Gangrene	HP:0040283	ORPHA:900
5657	PRTN3	HP:0002315	Headache	HP:0040283	ORPHA:900
5657	PRTN3	HP:0200034	Papule	HP:0040282	ORPHA:900
5657	PRTN3	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:900
5657	PRTN3	HP:0200042	Skin ulcer	HP:0040283	ORPHA:900
5657	PRTN3	HP:0002301	Hemiplegia	HP:0040283	ORPHA:900
5657	PRTN3	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:900
5657	PRTN3	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:900
5657	PRTN3	HP:0001945	Fever	HP:0040281	ORPHA:900
5657	PRTN3	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:900
5657	PRTN3	HP:0012735	Cough	HP:0040282	ORPHA:900
5657	PRTN3	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:900
5657	PRTN3	HP:0034104	Anti-neutrophil elastase antibody positivity	HP:0040282	ORPHA:900
5657	PRTN3	HP:0000790	Hematuria	HP:0040281	ORPHA:900
5657	PRTN3	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:900
5657	PRTN3	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:900
5657	PRTN3	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040282	ORPHA:900
5657	PRTN3	HP:0000822	Hypertension	HP:0040283	ORPHA:900
5657	PRTN3	HP:0000979	Purpura	HP:0040283	ORPHA:900
5657	PRTN3	HP:0000988	Skin rash	HP:0040282	ORPHA:900
5657	PRTN3	HP:0011675	Arrhythmia	HP:0040283	ORPHA:900
5657	PRTN3	HP:0002829	Arthralgia	HP:0040281	ORPHA:900
5657	PRTN3	HP:0000246	Sinusitis	HP:0040281	ORPHA:900
5657	PRTN3	HP:0006510	Chronic pulmonary obstruction	HP:0040282	ORPHA:900
5657	PRTN3	HP:0012378	Fatigue	HP:0040281	ORPHA:900
5657	PRTN3	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:900
5657	PRTN3	HP:0000388	Otitis media	HP:0040281	ORPHA:900
5657	PRTN3	HP:0005214	Intestinal obstruction	HP:0040283	ORPHA:900
5657	PRTN3	HP:0006535	Recurrent intrapulmonary hemorrhage	HP:0040282	ORPHA:900
5657	PRTN3	HP:0001607	Subglottic stenosis	HP:0040283	ORPHA:900
5657	PRTN3	HP:0000366	Abnormality of the nose	HP:0040281	ORPHA:900
5657	PRTN3	HP:0001681	Angina pectoris	HP:0040283	ORPHA:900
5657	PRTN3	HP:0002960	Autoimmunity	HP:0040281	ORPHA:900
5657	PRTN3	HP:0002955	Granulomatosis	HP:0040281	ORPHA:900
5657	PRTN3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:900
5657	PRTN3	HP:0001733	Pancreatitis	HP:0040283	ORPHA:900
5657	PRTN3	HP:0001701	Pericarditis	HP:0040283	ORPHA:900
5657	PRTN3	HP:0000491	Keratitis	HP:0040283	ORPHA:900
5657	PRTN3	HP:0000488	Retinopathy	HP:0040283	ORPHA:900
5657	PRTN3	HP:0000421	Epistaxis	HP:0040281	ORPHA:900
5657	PRTN3	HP:0000520	Proptosis	HP:0040283	ORPHA:900
5657	PRTN3	HP:0001824	Weight loss	HP:0040281	ORPHA:900
5657	PRTN3	HP:0000505	Visual impairment	HP:0040283	ORPHA:900
5657	PRTN3	HP:0000579	Nasolacrimal duct obstruction	HP:0040282	ORPHA:900
5657	PRTN3	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:900
5660	PSAP	HP:0001188	Hand clenching	HP:0040282	ORPHA:206436
5660	PSAP	HP:0002487	Hyperkinetic movements	2/2	OMIM:611721
5660	PSAP	HP:0002483	Bulbar signs	HP:0040283	ORPHA:309271
5660	PSAP	HP:0002478	Progressive spastic quadriplegia	HP:0040283	ORPHA:309271
5660	PSAP	HP:0007305	CNS demyelination	-	OMIM:249900
5660	PSAP	HP:0007305	CNS demyelination	-	OMIM:611721
5660	PSAP	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:309256
5660	PSAP	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:309271
5660	PSAP	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:309263
5660	PSAP	HP:0100963	Hyperesthesia	HP:0040283	ORPHA:206436
5660	PSAP	HP:0007272	Progressive psychomotor deterioration	HP:0040283	ORPHA:309271
5660	PSAP	HP:0007272	Progressive psychomotor deterioration	HP:0040283	ORPHA:309263
5660	PSAP	HP:0007266	Cerebral dysmyelination	1/1	OMIM:611722
5660	PSAP	HP:0020221	Clonic seizure	1/1	OMIM:610539
5660	PSAP	HP:0007240	Progressive gait ataxia	HP:0040283	ORPHA:309271
5660	PSAP	HP:0007240	Progressive gait ataxia	HP:0040282	ORPHA:309256
5660	PSAP	HP:0007240	Progressive gait ataxia	HP:0040283	ORPHA:309263
5660	PSAP	HP:0002421	Poor head control	HP:0040283	ORPHA:206436
5660	PSAP	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:309256
5660	PSAP	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:309271
5660	PSAP	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:309263
5660	PSAP	HP:0001298	Encephalopathy	HP:0040283	ORPHA:206436
5660	PSAP	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:309271
5660	PSAP	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:309263
5660	PSAP	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:309256
5660	PSAP	HP:0001276	Hypertonia	2/2	OMIM:611722
5660	PSAP	HP:0001271	Polyneuropathy	1/1	OMIM:249900
5660	PSAP	HP:6000611	Elevated circulating chitotriosidase activity	HP:0040282	ORPHA:309252
5660	PSAP	HP:0001268	Mental deterioration	-	OMIM:249900
5660	PSAP	HP:0001268	Mental deterioration	HP:0040281	ORPHA:206436
5660	PSAP	HP:0001288	Gait disturbance	HP:0040282	ORPHA:309271
5660	PSAP	HP:0001285	Spastic tetraparesis	-	OMIM:249900
5660	PSAP	HP:0001250	Seizure	HP:0040283	ORPHA:206436
5660	PSAP	HP:0001250	Seizure	HP:0040284	ORPHA:309271
5660	PSAP	HP:0001250	Seizure	HP:0040283	ORPHA:309263
5660	PSAP	HP:0001250	Seizure	HP:0040282	ORPHA:309252
5660	PSAP	HP:0001250	Seizure	HP:0040282	ORPHA:309256
5660	PSAP	HP:0001250	Seizure	-	OMIM:249900
5660	PSAP	HP:0001250	Seizure	-	OMIM:610539
5660	PSAP	HP:0001252	Hypotonia	-	OMIM:611721
5660	PSAP	HP:0001252	Hypotonia	HP:0040283	ORPHA:309252
5660	PSAP	HP:0001252	Hypotonia	1/1	OMIM:249900
5660	PSAP	HP:0001252	Hypotonia	HP:0040281	ORPHA:139406
5660	PSAP	HP:0001251	Ataxia	HP:0040283	ORPHA:309252
5660	PSAP	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:309271
5660	PSAP	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:309263
5660	PSAP	HP:0001265	Hyporeflexia	1/1	OMIM:611722
5660	PSAP	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:309256
5660	PSAP	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:206436
5660	PSAP	HP:0001265	Hyporeflexia	-	OMIM:249900
5660	PSAP	HP:0001264	Spastic diplegia	HP:0040284	ORPHA:206436
5660	PSAP	HP:0001260	Dysarthria	HP:0040282	ORPHA:309271
5660	PSAP	HP:0001260	Dysarthria	HP:0040282	ORPHA:309263
5660	PSAP	HP:0001260	Dysarthria	HP:0040282	ORPHA:309256
5660	PSAP	HP:0001260	Dysarthria	-	OMIM:249900
5660	PSAP	HP:0001263	Global developmental delay	HP:0040283	ORPHA:206436
5660	PSAP	HP:0001263	Global developmental delay	1/1	OMIM:249900
5660	PSAP	HP:0001257	Spasticity	HP:0040283	ORPHA:309271
5660	PSAP	HP:0001257	Spasticity	HP:0040283	ORPHA:309263
5660	PSAP	HP:0001257	Spasticity	HP:0040283	ORPHA:309256
5660	PSAP	HP:0001257	Spasticity	HP:0040281	ORPHA:206436
5660	PSAP	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/1	OMIM:610539
5660	PSAP	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	6/6	OMIM:619491
5660	PSAP	HP:0002518	Abnormal periventricular white matter morphology	-	OMIM:249900
5660	PSAP	HP:0002518	Abnormal periventricular white matter morphology	-	OMIM:611721
5660	PSAP	HP:0002518	Abnormal periventricular white matter morphology	HP:0040282	ORPHA:206436
5660	PSAP	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:206436
5660	PSAP	HP:0002529	Neuronal loss in central nervous system	-	OMIM:611721
5660	PSAP	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:206436
5660	PSAP	HP:0002505	Loss of ambulation	1/1	OMIM:249900
5660	PSAP	HP:0000020	Urinary incontinence	-	OMIM:249900
5660	PSAP	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:309271
5660	PSAP	HP:0000020	Urinary incontinence	HP:0040282	ORPHA:309263
5660	PSAP	HP:0000020	Urinary incontinence	HP:0040282	ORPHA:309256
5660	PSAP	HP:0001347	Hyperreflexia	1/1	OMIM:611722
5660	PSAP	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:206436
5660	PSAP	HP:0001347	Hyperreflexia	-	OMIM:249900
5660	PSAP	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:309256
5660	PSAP	HP:0031161	Reduced brain glutamate level by MRS	HP:0040282	ORPHA:206436
5660	PSAP	HP:0001332	Dystonia	HP:0040282	ORPHA:309271
5660	PSAP	HP:0001332	Dystonia	HP:0040282	ORPHA:309263
5660	PSAP	HP:0001332	Dystonia	HP:0040282	ORPHA:309256
5660	PSAP	HP:0001332	Dystonia	HP:0040281	ORPHA:139406
5660	PSAP	HP:0001324	Muscle weakness	HP:0040282	ORPHA:309271
5660	PSAP	HP:0001324	Muscle weakness	HP:0040282	ORPHA:309263
5660	PSAP	HP:0001324	Muscle weakness	HP:0040282	ORPHA:309256
5660	PSAP	HP:0001324	Muscle weakness	HP:0040283	ORPHA:206436
5660	PSAP	HP:0001324	Muscle weakness	1/1	OMIM:249900
5660	PSAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:611721
5660	PSAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:611722
5660	PSAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:249900
5660	PSAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:610539
5660	PSAP	HP:0001337	Tremor	HP:0040283	ORPHA:309252
5660	PSAP	HP:0000006	Autosomal dominant inheritance	-	OMIM:619491
5660	PSAP	HP:0001336	Myoclonus	HP:0040281	ORPHA:139406
5660	PSAP	HP:0001336	Myoclonus	2/2	OMIM:611721
5660	PSAP	HP:0001336	Myoclonus	1/1	OMIM:610539
5660	PSAP	HP:0001336	Myoclonus	HP:0040283	ORPHA:309252
5660	PSAP	HP:0001336	Myoclonus	HP:0040283	ORPHA:206436
5660	PSAP	HP:0002653	Bone pain	2/2	OMIM:610539
5660	PSAP	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:309271
5660	PSAP	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:309271
5660	PSAP	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:309263
5660	PSAP	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:309256
5660	PSAP	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:206436
5660	PSAP	HP:0001433	Hepatosplenomegaly	HP:0040281	ORPHA:309252
5660	PSAP	HP:0002719	Recurrent infections	HP:0040283	ORPHA:206436
5660	PSAP	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:206436
5660	PSAP	HP:0002015	Dysphagia	-	OMIM:249900
5660	PSAP	HP:0002013	Vomiting	HP:0040283	ORPHA:206436
5660	PSAP	HP:0005968	Temperature instability	HP:0040283	ORPHA:206436
5660	PSAP	HP:0011813	Increased cerebral lipofuscin	-	OMIM:610539
5660	PSAP	HP:0002080	Intention tremor	HP:0040283	ORPHA:309271
5660	PSAP	HP:0002080	Intention tremor	HP:0040283	ORPHA:309263
5660	PSAP	HP:0002080	Intention tremor	1/1	OMIM:610539
5660	PSAP	HP:0002098	Respiratory distress	HP:0040283	ORPHA:206436
5660	PSAP	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:139406
5660	PSAP	HP:0002093	Respiratory insufficiency	1/1	OMIM:611722
5660	PSAP	HP:0002069	Bilateral tonic-clonic seizure	HP:0040281	ORPHA:139406
5660	PSAP	HP:0002066	Gait ataxia	-	OMIM:249900
5660	PSAP	HP:0002066	Gait ataxia	HP:0040282	ORPHA:309256
5660	PSAP	HP:0003394	Muscle spasm	HP:0040283	ORPHA:206436
5660	PSAP	HP:0002063	Rigidity	1/6	OMIM:619491
5660	PSAP	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:206436
5660	PSAP	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:611721
5660	PSAP	HP:0002072	Chorea	HP:0040283	ORPHA:309271
5660	PSAP	HP:0100575	Neoplasm of the gallbladder	HP:0040284	ORPHA:309271
5660	PSAP	HP:0003477	Peripheral axonal neuropathy	1/1	OMIM:611722
5660	PSAP	HP:0003487	Babinski sign	HP:0040283	ORPHA:309271
5660	PSAP	HP:0003487	Babinski sign	HP:0040283	ORPHA:309263
5660	PSAP	HP:0003487	Babinski sign	-	OMIM:611721
5660	PSAP	HP:0003487	Babinski sign	HP:0040283	ORPHA:309256
5660	PSAP	HP:0003487	Babinski sign	-	OMIM:249900
5660	PSAP	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:206436
5660	PSAP	HP:0002119	Ventriculomegaly	1/1	OMIM:611722
5660	PSAP	HP:0002133	Status epilepticus	1/1	OMIM:610539
5660	PSAP	HP:0003444	EMG: chronic denervation signs	HP:0040283	ORPHA:309271
5660	PSAP	HP:0003444	EMG: chronic denervation signs	HP:0040282	ORPHA:309256
5660	PSAP	HP:0003444	EMG: chronic denervation signs	HP:0040283	ORPHA:309263
5660	PSAP	HP:0002179	Opisthotonus	HP:0040283	ORPHA:206436
5660	PSAP	HP:0003596	Middle age onset	5/6	OMIM:619491
5660	PSAP	HP:0003593	Infantile onset	1/1	OMIM:611722
5660	PSAP	HP:0003577	Congenital onset	-	OMIM:611721
5660	PSAP	HP:0002240	Hepatomegaly	2/2	OMIM:611721
5660	PSAP	HP:0002240	Hepatomegaly	3/3	OMIM:610539
5660	PSAP	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:139406
5660	PSAP	HP:0003552	Muscle stiffness	HP:0040283	ORPHA:206436
5660	PSAP	HP:0003547	Shoulder girdle muscle weakness	HP:0040283	ORPHA:206436
5660	PSAP	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:139406
5660	PSAP	HP:0010729	Cherry red spot of the macula	HP:0040284	ORPHA:206436
5660	PSAP	HP:0002283	Global brain atrophy	1/1	OMIM:611722
5660	PSAP	HP:0100753	Schizophrenia	HP:0040283	ORPHA:309271
5660	PSAP	HP:0011968	Feeding difficulties	-	OMIM:611721
5660	PSAP	HP:0011968	Feeding difficulties	1/1	OMIM:611722
5660	PSAP	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:206436
5660	PSAP	HP:0001053	Hypopigmented skin patches	HP:0040284	ORPHA:206436
5660	PSAP	HP:0002380	Fasciculations	-	OMIM:611721
5660	PSAP	HP:0025013	Decerebrate rigidity	HP:0040284	ORPHA:309271
5660	PSAP	HP:0025013	Decerebrate rigidity	HP:0040284	ORPHA:309263
5660	PSAP	HP:0025013	Decerebrate rigidity	HP:0040283	ORPHA:206436
5660	PSAP	HP:0025013	Decerebrate rigidity	HP:0040284	ORPHA:309256
5660	PSAP	HP:0002361	Psychomotor deterioration	HP:0040282	ORPHA:206436
5660	PSAP	HP:0002359	Frequent falls	HP:0040282	ORPHA:309271
5660	PSAP	HP:0002359	Frequent falls	HP:0040282	ORPHA:309263
5660	PSAP	HP:0002359	Frequent falls	HP:0040282	ORPHA:309256
5660	PSAP	HP:0002376	Developmental regression	1/1	OMIM:249900
5660	PSAP	HP:0002376	Developmental regression	HP:0040282	ORPHA:309271
5660	PSAP	HP:0002376	Developmental regression	HP:0040282	ORPHA:309263
5660	PSAP	HP:0002376	Developmental regression	1/1	OMIM:610539
5660	PSAP	HP:0002376	Developmental regression	HP:0040282	ORPHA:309256
5660	PSAP	HP:0002371	Loss of speech	HP:0040283	ORPHA:309271
5660	PSAP	HP:0002371	Loss of speech	HP:0040283	ORPHA:309256
5660	PSAP	HP:0002371	Loss of speech	-	OMIM:249900
5660	PSAP	HP:0002371	Loss of speech	HP:0040283	ORPHA:309263
5660	PSAP	HP:0002344	Progressive neurologic deterioration	1/1	OMIM:611722
5660	PSAP	HP:0002344	Progressive neurologic deterioration	HP:0040281	ORPHA:206436
5660	PSAP	HP:0002353	EEG abnormality	HP:0040283	ORPHA:309252
5660	PSAP	HP:0002354	Memory impairment	HP:0040282	ORPHA:309271
5660	PSAP	HP:0002322	Resting tremor	4/6	OMIM:619491
5660	PSAP	HP:0004975	Erlenmeyer flask deformity of the femurs	1/2	OMIM:610539
5660	PSAP	HP:0002333	Motor deterioration	1/1	OMIM:249900
5660	PSAP	HP:0003656	Decreased beta-glucocerebrosidase level	-	ORPHA:309252
5660	PSAP	HP:0009830	Peripheral neuropathy	1/1	OMIM:249900
5660	PSAP	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:206436
5660	PSAP	HP:0001082	Cholecystitis	HP:0040283	ORPHA:309271
5660	PSAP	HP:0001082	Cholecystitis	HP:0040283	ORPHA:309256
5660	PSAP	HP:0001082	Cholecystitis	HP:0040283	ORPHA:309263
5660	PSAP	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:206436
5660	PSAP	HP:0007133	Progressive peripheral neuropathy	HP:0040283	ORPHA:309271
5660	PSAP	HP:0007133	Progressive peripheral neuropathy	HP:0040283	ORPHA:309263
5660	PSAP	HP:0007133	Progressive peripheral neuropathy	HP:0040282	ORPHA:309256
5660	PSAP	HP:0007103	Hypointensity of cerebral white matter on MRI	HP:0040283	ORPHA:206436
5660	PSAP	HP:0003623	Neonatal onset	2/2	OMIM:611721
5660	PSAP	HP:0002312	Clumsiness	HP:0040282	ORPHA:309271
5660	PSAP	HP:0002312	Clumsiness	HP:0040282	ORPHA:309263
5660	PSAP	HP:0002312	Clumsiness	HP:0040282	ORPHA:309256
5660	PSAP	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	HP:0040284	ORPHA:309271
5660	PSAP	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:206436
5660	PSAP	HP:0006897	Abducens palsy	1/1	OMIM:610539
5660	PSAP	HP:0001971	Hypersplenism	1/2	OMIM:610539
5660	PSAP	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:309271
5660	PSAP	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:309256
5660	PSAP	HP:0000649	Abnormality of visual evoked potentials	HP:0040281	ORPHA:206436
5660	PSAP	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:309263
5660	PSAP	HP:0000648	Optic atrophy	HP:0040282	ORPHA:309271
5660	PSAP	HP:0000648	Optic atrophy	HP:0040282	ORPHA:309263
5660	PSAP	HP:0000648	Optic atrophy	HP:0040283	OMIM:611721
5660	PSAP	HP:0000648	Optic atrophy	HP:0040282	ORPHA:309256
5660	PSAP	HP:0000648	Optic atrophy	HP:0040283	ORPHA:206436
5660	PSAP	HP:0000618	Blindness	HP:0040283	ORPHA:206436
5660	PSAP	HP:0000613	Photophobia	HP:0040283	ORPHA:206436
5660	PSAP	HP:0001955	Unexplained fevers	HP:0040281	ORPHA:206436
5660	PSAP	HP:0000605	Supranuclear gaze palsy	1/1	OMIM:610539
5660	PSAP	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040283	ORPHA:309271
5660	PSAP	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040283	ORPHA:309263
5660	PSAP	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040283	ORPHA:309256
5660	PSAP	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:309252
5660	PSAP	HP:0001903	Anemia	2/2	OMIM:610539
5660	PSAP	HP:0001903	Anemia	HP:0040283	ORPHA:309252
5660	PSAP	HP:0000666	Horizontal nystagmus	1/1	OMIM:610539
5660	PSAP	HP:0004326	Cachexia	HP:0040283	ORPHA:206436
5660	PSAP	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:206436
5660	PSAP	HP:0004343	Abnormal glycosphingolipid metabolism	HP:0040282	ORPHA:309271
5660	PSAP	HP:0004343	Abnormal glycosphingolipid metabolism	-	OMIM:611721
5660	PSAP	HP:0004343	Abnormal glycosphingolipid metabolism	HP:0040282	ORPHA:309263
5660	PSAP	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:309256
5660	PSAP	HP:0000762	Decreased nerve conduction velocity	2/2	OMIM:249900
5660	PSAP	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:309271
5660	PSAP	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:206436
5660	PSAP	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:309263
5660	PSAP	HP:0000738	Hallucinations	HP:0040283	ORPHA:309256
5660	PSAP	HP:0000738	Hallucinations	HP:0040282	ORPHA:309271
5660	PSAP	HP:0000738	Hallucinations	HP:0040283	ORPHA:309263
5660	PSAP	HP:0000737	Irritability	HP:0040281	ORPHA:206436
5660	PSAP	HP:0000736	Short attention span	HP:0040282	ORPHA:309271
5660	PSAP	HP:0000736	Short attention span	HP:0040282	ORPHA:309263
5660	PSAP	HP:0000746	Delusion	HP:0040282	ORPHA:309271
5660	PSAP	HP:0000746	Delusion	HP:0040283	ORPHA:309256
5660	PSAP	HP:0000746	Delusion	HP:0040283	ORPHA:309263
5660	PSAP	HP:0012706	Elevated brain choline level by MRS	HP:0040282	ORPHA:206436
5660	PSAP	HP:0012708	Reduced brain N-acetyl aspartate level by MRS	HP:0040282	ORPHA:206436
5660	PSAP	HP:0000716	Depression	HP:0040283	ORPHA:309271
5660	PSAP	HP:0000716	Depression	2/6	OMIM:619491
5660	PSAP	HP:0000712	Emotional lability	HP:0040282	ORPHA:309271
5660	PSAP	HP:0000712	Emotional lability	HP:0040283	ORPHA:309263
5660	PSAP	HP:0000712	Emotional lability	HP:0040283	ORPHA:309256
5660	PSAP	HP:0000726	Dementia	HP:0040282	ORPHA:309271
5660	PSAP	HP:6001185	Elevated circulating glucosylsphingosine concentration	HP:0040282	ORPHA:309252
5660	PSAP	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:206436
5660	PSAP	HP:0011463	Childhood onset	1/1	OMIM:249900
5660	PSAP	HP:0011462	Young adult onset	1/6	OMIM:619491
5660	PSAP	HP:0011444	Decorticate rigidity	HP:0040283	ORPHA:206436
5660	PSAP	HP:0011448	Ankle clonus	HP:0040283	ORPHA:206436
5660	PSAP	HP:0004466	Delayed brainstem auditory evoked response conduction time	HP:0040282	ORPHA:206436
5660	PSAP	HP:0003148	Elevated serum acid phosphatase	1/1	OMIM:610539
5660	PSAP	HP:0003146	Hypocholesterolemia	1/2	OMIM:610539
5660	PSAP	HP:0030890	Hyperintensity of cerebral white matter on MRI	1/1	OMIM:611722
5660	PSAP	HP:0003270	Abdominal distention	HP:0040283	ORPHA:309271
5660	PSAP	HP:0003270	Abdominal distention	HP:0040283	ORPHA:309263
5660	PSAP	HP:0003270	Abdominal distention	HP:0040283	ORPHA:309256
5660	PSAP	HP:0034322	Reduced tissue galactocerebrosidase activity	HP:0040281	ORPHA:206436
5660	PSAP	HP:0033031	Hyperpyrexia	HP:0040281	ORPHA:206436
5660	PSAP	HP:0000938	Osteopenia	1/2	OMIM:610539
5660	PSAP	HP:0000938	Osteopenia	HP:0040283	ORPHA:309252
5660	PSAP	HP:0040194	Increased head circumference	HP:0040283	ORPHA:206436
5660	PSAP	HP:0040195	Decreased head circumference	HP:0040283	ORPHA:206436
5660	PSAP	HP:0030081	Punctate periventricular T2 hyperintense foci	HP:0040282	ORPHA:309271
5660	PSAP	HP:0030081	Punctate periventricular T2 hyperintense foci	HP:0040282	ORPHA:309263
5660	PSAP	HP:0030081	Punctate periventricular T2 hyperintense foci	HP:0040282	ORPHA:309256
5660	PSAP	HP:0002808	Kyphosis	HP:0040283	ORPHA:309252
5660	PSAP	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:206436
5660	PSAP	HP:0000252	Microcephaly	HP:0040283	ORPHA:309252
5660	PSAP	HP:0002878	Respiratory failure	1/1	OMIM:611722
5660	PSAP	HP:0002878	Respiratory failure	HP:0040283	ORPHA:206436
5660	PSAP	HP:0001522	Death in infancy	HP:0040281	ORPHA:139406
5660	PSAP	HP:0001522	Death in infancy	2/2	OMIM:611721
5660	PSAP	HP:0001522	Death in infancy	1/1	OMIM:611722
5660	PSAP	HP:0002871	Central apnea	1/1	OMIM:611722
5660	PSAP	HP:0031358	Vegetative state	HP:0040284	ORPHA:309271
5660	PSAP	HP:0031358	Vegetative state	HP:0040284	ORPHA:309263
5660	PSAP	HP:0031358	Vegetative state	HP:0040284	ORPHA:309256
5660	PSAP	HP:0031358	Vegetative state	1/1	OMIM:611722
5660	PSAP	HP:0001508	Failure to thrive	HP:0040282	ORPHA:206436
5660	PSAP	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:309256
5660	PSAP	HP:0011096	Peripheral demyelination	2/2	OMIM:249900
5660	PSAP	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:206436
5660	PSAP	HP:0001601	Laryngomalacia	HP:0040284	ORPHA:206436
5660	PSAP	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:309256
5660	PSAP	HP:0002922	Increased CSF protein concentration	1/1	OMIM:249900
5660	PSAP	HP:0002922	Increased CSF protein concentration	2/2	OMIM:611722
5660	PSAP	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:309271
5660	PSAP	HP:0002922	Increased CSF protein concentration	HP:0040281	ORPHA:206436
5660	PSAP	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:309263
5660	PSAP	HP:0000365	Hearing impairment	HP:0040283	ORPHA:309252
5660	PSAP	HP:0000365	Hearing impairment	HP:0040283	ORPHA:206436
5660	PSAP	HP:0032792	Tonic seizure	1/1	OMIM:611722
5660	PSAP	HP:0011169	Generalized clonic seizure	-	OMIM:611721
5660	PSAP	HP:0030215	Inappropriate crying	HP:0040281	ORPHA:206436
5660	PSAP	HP:0030211	Slow pupillary light response	HP:0040283	ORPHA:206436
5660	PSAP	HP:0000496	Abnormality of eye movement	HP:0040281	ORPHA:139406
5660	PSAP	HP:0012433	Abnormal social behavior	HP:0040282	ORPHA:309271
5660	PSAP	HP:0012433	Abnormal social behavior	HP:0040282	ORPHA:309263
5660	PSAP	HP:0012433	Abnormal social behavior	HP:0040283	ORPHA:309256
5660	PSAP	HP:0000467	Neck muscle weakness	HP:0040284	ORPHA:206436
5660	PSAP	HP:0012432	Chronic fatigue	2/2	OMIM:610539
5660	PSAP	HP:0001751	Abnormal vestibular function	HP:0040283	ORPHA:309252
5660	PSAP	HP:0001744	Splenomegaly	2/2	OMIM:611721
5660	PSAP	HP:0001744	Splenomegaly	3/3	OMIM:610539
5660	PSAP	HP:0001744	Splenomegaly	HP:0040281	ORPHA:139406
5660	PSAP	HP:0001824	Weight loss	HP:0040283	ORPHA:206436
5660	PSAP	HP:0000508	Ptosis	1/1	OMIM:610539
5660	PSAP	HP:0000572	Visual loss	HP:0040283	ORPHA:206436
5660	PSAP	HP:0001873	Thrombocytopenia	2/2	OMIM:610539
5660	PSAP	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:309252
5660	PSAP	HP:0000545	Myopia	HP:0040283	ORPHA:309252
5663	PSEN1	HP:0002493	Upper motor neuron dysfunction	HP:0040283	ORPHA:275864
5663	PSEN1	HP:0002465	Poor speech	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0002463	Language impairment	-	OMIM:172700
5663	PSEN1	HP:0002463	Language impairment	-	OMIM:600274
5663	PSEN1	HP:0002463	Language impairment	HP:0040281	ORPHA:1020
5663	PSEN1	HP:0003791	Deposits immunoreactive to beta-amyloid protein	HP:0040281	ORPHA:1020
5663	PSEN1	HP:0002476	Primitive reflex	-	OMIM:600274
5663	PSEN1	HP:0002476	Primitive reflex	-	OMIM:172700
5663	PSEN1	HP:0002442	Dyscalculia	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0002446	Astrocytosis	HP:0040283	ORPHA:275864
5663	PSEN1	HP:0002446	Astrocytosis	HP:0040283	ORPHA:100070
5663	PSEN1	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
5663	PSEN1	HP:0003745	Sporadic	-	OMIM:172700
5663	PSEN1	HP:0002427	Expressive aphasia	HP:0040283	ORPHA:100070
5663	PSEN1	HP:0001297	Stroke	-	ORPHA:100070
5663	PSEN1	HP:0001276	Hypertonia	HP:0040281	ORPHA:1020
5663	PSEN1	HP:0001268	Mental deterioration	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0001268	Mental deterioration	HP:0040281	ORPHA:100070
5663	PSEN1	HP:0001289	Confusion	HP:0040281	ORPHA:1020
5663	PSEN1	HP:0001288	Gait disturbance	-	OMIM:607822
5663	PSEN1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:275864
5663	PSEN1	HP:0001285	Spastic tetraparesis	-	OMIM:607822
5663	PSEN1	HP:0100838	Recurrent cutaneous abscess formation	-	OMIM:613737
5663	PSEN1	HP:0001279	Syncope	1/3	OMIM:613694
5663	PSEN1	HP:0001250	Seizure	HP:0040281	ORPHA:1020
5663	PSEN1	HP:0001250	Seizure	-	OMIM:607822
5663	PSEN1	HP:0001251	Ataxia	HP:0040283	ORPHA:1020
5663	PSEN1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:1020
5663	PSEN1	HP:0001260	Dysarthria	-	OMIM:607822
5663	PSEN1	HP:0002591	Polyphagia	-	OMIM:172700
5663	PSEN1	HP:0002591	Polyphagia	-	OMIM:600274
5663	PSEN1	HP:0008768	Abnormal sexual behavior	-	OMIM:600274
5663	PSEN1	HP:0007354	Amyotrophic lateral sclerosis	8/10	OMIM:600274
5663	PSEN1	HP:0002511	Alzheimer disease	-	OMIM:607822
5663	PSEN1	HP:0002529	Neuronal loss in central nervous system	-	OMIM:600274
5663	PSEN1	HP:0002529	Neuronal loss in central nervous system	-	OMIM:172700
5663	PSEN1	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:275864
5663	PSEN1	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:100070
5663	PSEN1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:275864
5663	PSEN1	HP:0001332	Dystonia	-	OMIM:607822
5663	PSEN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:172700
5663	PSEN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613737
5663	PSEN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:607822
5663	PSEN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613694
5663	PSEN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:600274
5663	PSEN1	HP:0001336	Myoclonus	-	OMIM:607822
5663	PSEN1	HP:0001336	Myoclonus	HP:0040281	ORPHA:1020
5663	PSEN1	HP:0033755	Increased left ventricular end-diastolic volume	3/3	OMIM:613694
5663	PSEN1	HP:0001300	Parkinsonism	4/10	OMIM:600274
5663	PSEN1	HP:0001300	Parkinsonism	HP:0040281	ORPHA:1020
5663	PSEN1	HP:0001300	Parkinsonism	HP:0040283	ORPHA:100070
5663	PSEN1	HP:0002015	Dysphagia	-	OMIM:607822
5663	PSEN1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:275864
5663	PSEN1	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:607822
5663	PSEN1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:275864
5663	PSEN1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:100070
5663	PSEN1	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
5663	PSEN1	HP:0011713	Left bundle branch block	1/3	OMIM:613694
5663	PSEN1	HP:0011705	First degree atrioventricular block	1/3	OMIM:613694
5663	PSEN1	HP:0002145	Frontotemporal dementia	-	OMIM:600274
5663	PSEN1	HP:0002145	Frontotemporal dementia	-	OMIM:172700
5663	PSEN1	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:100070
5663	PSEN1	HP:0003487	Babinski sign	-	OMIM:607822
5663	PSEN1	HP:0002120	Cerebral cortical atrophy	-	OMIM:607822
5663	PSEN1	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1020
5663	PSEN1	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
5663	PSEN1	HP:0002186	Apraxia	-	OMIM:607822
5663	PSEN1	HP:0002186	Apraxia	HP:0040283	ORPHA:1020
5663	PSEN1	HP:0002186	Apraxia	HP:0040282	ORPHA:100070
5663	PSEN1	HP:0002185	Neurofibrillary tangles	-	OMIM:607822
5663	PSEN1	HP:0002185	Neurofibrillary tangles	HP:0040281	ORPHA:1020
5663	PSEN1	HP:0002185	Neurofibrillary tangles	-	ORPHA:100070
5663	PSEN1	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:100069
5663	PSEN1	HP:0002171	Gliosis	-	OMIM:172700
5663	PSEN1	HP:0010529	Echolalia	-	OMIM:172700
5663	PSEN1	HP:0010529	Echolalia	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0010522	Dyslexia	HP:0040282	ORPHA:100069
5663	PSEN1	HP:0010522	Dyslexia	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0010526	Dysgraphia	HP:0040282	ORPHA:100069
5663	PSEN1	HP:0010526	Dysgraphia	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0010526	Dysgraphia	HP:0040283	ORPHA:1020
5663	PSEN1	HP:0010526	Dysgraphia	HP:0040283	ORPHA:100070
5663	PSEN1	HP:0010525	Finger agnosia	HP:0040283	ORPHA:1020
5663	PSEN1	HP:0010524	Disturbed sensory perception	HP:0040283	OMIM:607822
5663	PSEN1	HP:0010523	Alexia	HP:0040282	ORPHA:100069
5663	PSEN1	HP:0010523	Alexia	HP:0040282	ORPHA:100070
5663	PSEN1	HP:0003596	Middle age onset	9/10	OMIM:600274
5663	PSEN1	HP:0003596	Middle age onset	2/3	OMIM:613694
5663	PSEN1	HP:0003581	Adult onset	-	OMIM:607822
5663	PSEN1	HP:0002380	Fasciculations	HP:0040283	ORPHA:275864
5663	PSEN1	HP:0002381	Aphasia	HP:0040281	ORPHA:100069
5663	PSEN1	HP:0002381	Aphasia	HP:0040283	ORPHA:1020
5663	PSEN1	HP:0002381	Aphasia	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0002381	Aphasia	HP:0040281	ORPHA:100070
5663	PSEN1	HP:0002395	Lower limb hyperreflexia	-	OMIM:607822
5663	PSEN1	HP:0002366	Abnormal lower motor neuron morphology	HP:0040283	ORPHA:100070
5663	PSEN1	HP:0002371	Loss of speech	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0002354	Memory impairment	-	OMIM:607822
5663	PSEN1	HP:0002354	Memory impairment	HP:0040281	ORPHA:1020
5663	PSEN1	HP:0002354	Memory impairment	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0002354	Memory impairment	HP:0040281	ORPHA:100070
5663	PSEN1	HP:0003678	Rapidly progressive	-	OMIM:607822
5663	PSEN1	HP:0007112	Temporal cortical atrophy	HP:0040281	ORPHA:100070
5663	PSEN1	HP:0002300	Mutism	HP:0040283	ORPHA:275864
5663	PSEN1	HP:0002300	Mutism	HP:0040283	ORPHA:100070
5663	PSEN1	HP:0031868	Optic ataxia	-	OMIM:607822
5663	PSEN1	HP:0006892	Frontotemporal cerebral atrophy	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0006892	Frontotemporal cerebral atrophy	HP:0040281	ORPHA:100070
5663	PSEN1	HP:0012666	Severely reduced left ventricular ejection fraction	3/3	OMIM:613694
5663	PSEN1	HP:0012671	Abulia	HP:0040282	ORPHA:100069
5663	PSEN1	HP:0012671	Abulia	HP:0040283	ORPHA:275864
5663	PSEN1	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:275864
5663	PSEN1	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:100070
5663	PSEN1	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:1020
5663	PSEN1	HP:0006977	Deficit in grammar	HP:0040281	ORPHA:100070
5663	PSEN1	HP:0030692	Brain neoplasm	-	ORPHA:100070
5663	PSEN1	HP:0000757	Lack of insight	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0000751	Personality changes	-	OMIM:600274
5663	PSEN1	HP:0000751	Personality changes	-	OMIM:607822
5663	PSEN1	HP:0000751	Personality changes	-	OMIM:172700
5663	PSEN1	HP:0000751	Personality changes	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0000751	Personality changes	HP:0040283	ORPHA:100070
5663	PSEN1	HP:0000738	Hallucinations	HP:0040281	ORPHA:1020
5663	PSEN1	HP:0000737	Irritability	-	OMIM:172700
5663	PSEN1	HP:0000737	Irritability	-	OMIM:600274
5663	PSEN1	HP:0000737	Irritability	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0000739	Anxiety	HP:0040282	ORPHA:100070
5663	PSEN1	HP:0000734	Disinhibition	-	OMIM:600274
5663	PSEN1	HP:0000734	Disinhibition	-	OMIM:172700
5663	PSEN1	HP:0000734	Disinhibition	HP:0040282	ORPHA:1020
5663	PSEN1	HP:0000734	Disinhibition	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0000733	Motor stereotypy	-	OMIM:172700
5663	PSEN1	HP:0000733	Motor stereotypy	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0000748	Inappropriate laughter	-	OMIM:600274
5663	PSEN1	HP:0000748	Inappropriate laughter	-	OMIM:172700
5663	PSEN1	HP:0000745	Abnormal diminished volition	-	OMIM:600274
5663	PSEN1	HP:0000745	Abnormal diminished volition	-	OMIM:172700
5663	PSEN1	HP:0000741	Apathy	-	OMIM:172700
5663	PSEN1	HP:0000741	Apathy	-	OMIM:600274
5663	PSEN1	HP:0000741	Apathy	HP:0040283	ORPHA:275864
5663	PSEN1	HP:0000719	Inappropriate behavior	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0000716	Depression	HP:0040282	ORPHA:100070
5663	PSEN1	HP:0000718	Aggressive behavior	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0000711	Restlessness	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0000711	Restlessness	HP:0040283	ORPHA:100070
5663	PSEN1	HP:0000713	Agitation	HP:0040281	ORPHA:1020
5663	PSEN1	HP:0000710	Hyperorality	-	OMIM:600274
5663	PSEN1	HP:0000710	Hyperorality	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0000710	Hyperorality	-	OMIM:172700
5663	PSEN1	HP:0000727	Frontal lobe dementia	-	OMIM:600274
5663	PSEN1	HP:0000726	Dementia	-	OMIM:607822
5663	PSEN1	HP:0000726	Dementia	7/10	OMIM:600274
5663	PSEN1	HP:0000726	Dementia	HP:0040281	ORPHA:1020
5663	PSEN1	HP:0000726	Dementia	HP:0040282	ORPHA:100069
5663	PSEN1	HP:0000723	Restrictive behavior	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0000709	Psychosis	HP:0040283	ORPHA:275864
5663	PSEN1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:100070
5663	PSEN1	HP:0000708	Atypical behavior	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0011446	Abnormality of mental function	HP:0040283	ORPHA:1020
5663	PSEN1	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
5663	PSEN1	HP:0012759	Neurodevelopmental abnormality	HP:0040281	ORPHA:1020
5663	PSEN1	HP:0030784	Anomic aphasia	HP:0040281	ORPHA:100069
5663	PSEN1	HP:0003198	Myopathy	HP:0040283	ORPHA:154
5663	PSEN1	HP:0100315	Lewy bodies	-	ORPHA:100070
5663	PSEN1	HP:0100256	Senile plaques	HP:0040283	ORPHA:100070
5663	PSEN1	HP:0000969	Edema	HP:0040282	ORPHA:154
5663	PSEN1	HP:0040154	Acne inversa	-	OMIM:613737
5663	PSEN1	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
5663	PSEN1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
5663	PSEN1	HP:0012378	Fatigue	HP:0040282	ORPHA:154
5663	PSEN1	HP:0012322	Perifolliculitis	-	OMIM:613737
5663	PSEN1	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
5663	PSEN1	HP:0001644	Dilated cardiomyopathy	3/3	OMIM:613694
5663	PSEN1	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
5663	PSEN1	HP:0001635	Congestive heart failure	1/3	OMIM:613694
5663	PSEN1	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
5663	PSEN1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
5663	PSEN1	HP:0001712	Left ventricular hypertrophy	2/3	OMIM:613694
5663	PSEN1	HP:0030213	Emotional dearth	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0030213	Emotional dearth	-	OMIM:172700
5663	PSEN1	HP:0030212	Collectionism	HP:0040282	ORPHA:275864
5663	PSEN1	HP:0030219	Semantic dementia	HP:0040283	ORPHA:1020
5663	PSEN1	HP:0030223	Perseverative thought	-	OMIM:172700
5663	PSEN1	HP:0030223	Perseverative thought	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0030223	Perseverative thought	HP:0040283	ORPHA:100070
5663	PSEN1	HP:0030222	Visual agnosia	HP:0040281	ORPHA:100069
5663	PSEN1	HP:0011132	Chronic furunculosis	-	OMIM:613737
5663	PSEN1	HP:0012444	Brain atrophy	HP:0040281	ORPHA:100069
5663	PSEN1	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:275864
5663	PSEN1	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:100070
5663	PSEN1	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:1020
5663	PSEN1	HP:0025710	Late young adult onset	1/10	OMIM:600274
5663	PSEN1	HP:0025710	Late young adult onset	1/3	OMIM:613694
5663	PSEN1	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1020
5663	PSEN1	HP:0011204	EEG with continuous slow activity	HP:0040282	ORPHA:275864
5663	PSEN1	HP:0011204	EEG with continuous slow activity	HP:0040282	ORPHA:100070
5663	PSEN1	HP:0030391	Spoken word recognition deficit	HP:0040281	ORPHA:100070
5664	PSEN2	HP:0002463	Language impairment	HP:0040281	ORPHA:1020
5664	PSEN2	HP:0003791	Deposits immunoreactive to beta-amyloid protein	HP:0040281	ORPHA:1020
5664	PSEN2	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
5664	PSEN2	HP:0001276	Hypertonia	HP:0040281	ORPHA:1020
5664	PSEN2	HP:0001289	Confusion	HP:0040281	ORPHA:1020
5664	PSEN2	HP:0001289	Confusion	1/2	OMIM:606889
5664	PSEN2	HP:0001279	Syncope	1/18	OMIM:613697
5664	PSEN2	HP:0001250	Seizure	HP:0040281	ORPHA:1020
5664	PSEN2	HP:0001251	Ataxia	HP:0040283	ORPHA:1020
5664	PSEN2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:1020
5664	PSEN2	HP:0031058	Impairment of activities of daily living	2/3	OMIM:606889
5664	PSEN2	HP:0002511	Alzheimer disease	2/3	OMIM:606889
5664	PSEN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:606889
5664	PSEN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613697
5664	PSEN2	HP:0001336	Myoclonus	HP:0040281	ORPHA:1020
5664	PSEN2	HP:0001336	Myoclonus	1/2	OMIM:606889
5664	PSEN2	HP:0033755	Increased left ventricular end-diastolic volume	5/18	OMIM:613697
5664	PSEN2	HP:0001300	Parkinsonism	HP:0040281	ORPHA:1020
5664	PSEN2	HP:0100543	Cognitive impairment	-	OMIM:606889
5664	PSEN2	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
5664	PSEN2	HP:0011713	Left bundle branch block	1/18	OMIM:613697
5664	PSEN2	HP:0011705	First degree atrioventricular block	2/18	OMIM:613697
5664	PSEN2	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1020
5664	PSEN2	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
5664	PSEN2	HP:0002186	Apraxia	HP:0040283	ORPHA:1020
5664	PSEN2	HP:0002186	Apraxia	2/5	OMIM:606889
5664	PSEN2	HP:0002185	Neurofibrillary tangles	-	OMIM:606889
5664	PSEN2	HP:0002185	Neurofibrillary tangles	HP:0040281	ORPHA:1020
5664	PSEN2	HP:0002197	Generalized-onset seizure	1/3	OMIM:606889
5664	PSEN2	HP:0010526	Dysgraphia	HP:0040283	ORPHA:1020
5664	PSEN2	HP:0010525	Finger agnosia	HP:0040283	ORPHA:1020
5664	PSEN2	HP:0003596	Middle age onset	19/23	OMIM:613697
5664	PSEN2	HP:0003596	Middle age onset	11/11	OMIM:606889
5664	PSEN2	HP:0003584	Late onset	3/13	OMIM:613697
5664	PSEN2	HP:0011970	Cerebral amyloid angiopathy	4/4	OMIM:606889
5664	PSEN2	HP:0002381	Aphasia	HP:0040283	ORPHA:1020
5664	PSEN2	HP:0002354	Memory impairment	HP:0040281	ORPHA:1020
5664	PSEN2	HP:0002354	Memory impairment	2/2	OMIM:606889
5664	PSEN2	HP:0007112	Temporal cortical atrophy	1/1	OMIM:606889
5664	PSEN2	HP:0012664	Reduced left ventricular ejection fraction	5/18	OMIM:613697
5664	PSEN2	HP:0012662	Parietal hypometabolism in FDG PET	-	OMIM:606889
5664	PSEN2	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:1020
5664	PSEN2	HP:0006979	Sleep-wake cycle disturbance	-	OMIM:606889
5664	PSEN2	HP:0000738	Hallucinations	HP:0040281	ORPHA:1020
5664	PSEN2	HP:0000734	Disinhibition	HP:0040282	ORPHA:1020
5664	PSEN2	HP:0000741	Apathy	1/1	OMIM:606889
5664	PSEN2	HP:0000718	Aggressive behavior	1/2	OMIM:606889
5664	PSEN2	HP:0000713	Agitation	HP:0040281	ORPHA:1020
5664	PSEN2	HP:0000726	Dementia	HP:0040281	ORPHA:1020
5664	PSEN2	HP:0000726	Dementia	1/18	OMIM:613697
5664	PSEN2	HP:0000726	Dementia	1/2	OMIM:606889
5664	PSEN2	HP:0011446	Abnormality of mental function	HP:0040283	ORPHA:1020
5664	PSEN2	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
5664	PSEN2	HP:0012759	Neurodevelopmental abnormality	HP:0040281	ORPHA:1020
5664	PSEN2	HP:0030784	Anomic aphasia	1/2	OMIM:606889
5664	PSEN2	HP:0003198	Myopathy	HP:0040283	ORPHA:154
5664	PSEN2	HP:0100256	Senile plaques	-	OMIM:606889
5664	PSEN2	HP:0000969	Edema	HP:0040282	ORPHA:154
5664	PSEN2	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
5664	PSEN2	HP:0005110	Atrial fibrillation	1/18	OMIM:613697
5664	PSEN2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
5664	PSEN2	HP:0012378	Fatigue	HP:0040282	ORPHA:154
5664	PSEN2	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
5664	PSEN2	HP:0001644	Dilated cardiomyopathy	5/16	OMIM:613697
5664	PSEN2	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
5664	PSEN2	HP:0001635	Congestive heart failure	3/18	OMIM:613697
5664	PSEN2	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
5664	PSEN2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
5664	PSEN2	HP:0001712	Left ventricular hypertrophy	2/18	OMIM:613697
5664	PSEN2	HP:0030219	Semantic dementia	HP:0040283	ORPHA:1020
5664	PSEN2	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:1020
5664	PSEN2	HP:0025710	Late young adult onset	1/13	OMIM:613697
5664	PSEN2	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1020
5689	PSMB1	HP:0010864	Intellectual disability, severe	2/2	OMIM:620038
5689	PSMB1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5689	PSMB1	HP:0001293	Cranial nerve compression	-	OMIM:131300
5689	PSMB1	HP:0001270	Motor delay	2/2	OMIM:620038
5689	PSMB1	HP:0001252	Hypotonia	2/2	OMIM:620038
5689	PSMB1	HP:0001252	Hypotonia	2/7	OMIM:615777
5689	PSMB1	HP:0001249	Intellectual disability	5/7	OMIM:615777
5689	PSMB1	HP:0001263	Global developmental delay	2/2	OMIM:620038
5689	PSMB1	HP:0001263	Global developmental delay	-	OMIM:615777
5689	PSMB1	HP:0002540	Inability to walk	2/2	OMIM:620038
5689	PSMB1	HP:0002515	Waddling gait	54/102	OMIM:131300
5689	PSMB1	HP:0001382	Joint hypermobility	-	OMIM:615777
5689	PSMB1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5689	PSMB1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5689	PSMB1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5689	PSMB1	HP:0001324	Muscle weakness	40/96	OMIM:131300
5689	PSMB1	HP:0001344	Absent speech	2/2	OMIM:620038
5689	PSMB1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5689	PSMB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5689	PSMB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620038
5689	PSMB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5689	PSMB1	HP:0002650	Scoliosis	12/14	OMIM:131300
5689	PSMB1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5689	PSMB1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5689	PSMB1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5689	PSMB1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5689	PSMB1	HP:0000175	Cleft palate	2/7	OMIM:615777
5689	PSMB1	HP:0003388	Easy fatigability	36/76	OMIM:131300
5689	PSMB1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5689	PSMB1	HP:0007018	Attention deficit hyperactivity disorder	1/2	OMIM:620038
5689	PSMB1	HP:0003510	Severe short stature	7/7	OMIM:615777
5689	PSMB1	HP:0002315	Headache	-	OMIM:131300
5689	PSMB1	HP:0004976	Knee dislocation	6/7	OMIM:615777
5689	PSMB1	HP:0009803	Short phalanx of finger	-	OMIM:615777
5689	PSMB1	HP:0009763	Limb pain	63/92	OMIM:131300
5689	PSMB1	HP:0003621	Juvenile onset	-	OMIM:131300
5689	PSMB1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5689	PSMB1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5689	PSMB1	HP:6001056	Out-toeing	-	OMIM:131300
5689	PSMB1	HP:0000651	Diplopia	-	OMIM:131300
5689	PSMB1	HP:0001956	Truncal obesity	2/7	OMIM:615777
5689	PSMB1	HP:0001903	Anemia	HP:0040283	OMIM:131300
5689	PSMB1	HP:0010049	Short metacarpal	-	OMIM:615777
5689	PSMB1	HP:0000678	Dental crowding	-	OMIM:615777
5689	PSMB1	HP:0000670	Carious teeth	-	OMIM:131300
5689	PSMB1	HP:0011304	Broad thumb	2/7	OMIM:615777
5689	PSMB1	HP:0000668	Hypodontia	-	OMIM:615777
5689	PSMB1	HP:0000664	Synophrys	-	OMIM:615777
5689	PSMB1	HP:0004396	Poor appetite	-	OMIM:131300
5689	PSMB1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5689	PSMB1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5689	PSMB1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5689	PSMB1	HP:0003026	Short long bone	7/7	OMIM:615777
5689	PSMB1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5689	PSMB1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5689	PSMB1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5689	PSMB1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5689	PSMB1	HP:0000750	Delayed speech and language development	-	OMIM:615777
5689	PSMB1	HP:0000718	Aggressive behavior	2/2	OMIM:620038
5689	PSMB1	HP:0011461	Fetal onset	7/7	OMIM:615777
5689	PSMB1	HP:0000774	Narrow chest	2/7	OMIM:615777
5689	PSMB1	HP:0000926	Platyspondyly	1/7	OMIM:615777
5689	PSMB1	HP:0003180	Flat acetabular roof	-	OMIM:615777
5689	PSMB1	HP:0004482	Relative macrocephaly	-	OMIM:615777
5689	PSMB1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5689	PSMB1	HP:0000823	Delayed puberty	-	OMIM:131300
5689	PSMB1	HP:0000894	Short clavicles	-	OMIM:615777
5689	PSMB1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5689	PSMB1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5689	PSMB1	HP:0000286	Epicanthus	1/7	OMIM:615777
5689	PSMB1	HP:0000280	Coarse facial features	2/7	OMIM:615777
5689	PSMB1	HP:0002827	Hip dislocation	3/7	OMIM:615777
5689	PSMB1	HP:0000252	Microcephaly	2/2	OMIM:620038
5689	PSMB1	HP:0000252	Microcephaly	-	OMIM:615777
5689	PSMB1	HP:0002857	Genu valgum	-	OMIM:131300
5689	PSMB1	HP:0001533	Slender build	-	OMIM:131300
5689	PSMB1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5689	PSMB1	HP:0007807	Optic nerve compression	-	OMIM:131300
5689	PSMB1	HP:0012368	Flat face	7/7	OMIM:615777
5689	PSMB1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5689	PSMB1	HP:0000365	Hearing impairment	2/2	OMIM:620038
5689	PSMB1	HP:0000365	Hearing impairment	10/67	OMIM:131300
5689	PSMB1	HP:0000343	Long philtrum	1/7	OMIM:615777
5689	PSMB1	HP:0011001	Increased bone mineral density	-	OMIM:131300
5689	PSMB1	HP:0000311	Round face	2/7	OMIM:615777
5689	PSMB1	HP:0002970	Genu varum	-	OMIM:615777
5689	PSMB1	HP:0000303	Mandibular prognathia	-	OMIM:131300
5689	PSMB1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5689	PSMB1	HP:0000470	Short neck	1/7	OMIM:615777
5689	PSMB1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5689	PSMB1	HP:0001763	Pes planus	1/7	OMIM:615777
5689	PSMB1	HP:0001840	Metatarsus adductus	-	OMIM:615777
5689	PSMB1	HP:0000520	Proptosis	2/4	OMIM:131300
5689	PSMB1	HP:0000520	Proptosis	7/7	OMIM:615777
5689	PSMB1	HP:0000592	Blue sclerae	2/7	OMIM:615777
5689	PSMB1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5689	PSMB1	HP:0012514	Lower limb pain	4/4	OMIM:131300
5692	PSMB4	HP:0025131	Finger swelling	-	OMIM:617591
5692	PSMB4	HP:0001371	Flexion contracture	-	OMIM:617591
5692	PSMB4	HP:0001369	Arthritis	-	OMIM:617591
5692	PSMB4	HP:0000007	Autosomal recessive inheritance	-	OMIM:617591
5692	PSMB4	HP:0002719	Recurrent infections	-	OMIM:617591
5692	PSMB4	HP:0002716	Lymphadenopathy	-	OMIM:617591
5692	PSMB4	HP:0100539	Periorbital edema	-	OMIM:617591
5692	PSMB4	HP:0002155	Hypertriglyceridemia	-	OMIM:617591
5692	PSMB4	HP:0002240	Hepatomegaly	-	OMIM:617591
5692	PSMB4	HP:0003565	Elevated erythrocyte sedimentation rate	-	OMIM:617591
5692	PSMB4	HP:0010702	Increased circulating immunoglobulin concentration	-	OMIM:617591
5692	PSMB4	HP:0100614	Myositis	-	OMIM:617591
5692	PSMB4	HP:0001954	Recurrent fever	-	OMIM:617591
5692	PSMB4	HP:0001903	Anemia	-	OMIM:617591
5692	PSMB4	HP:0009125	Lipodystrophy	-	OMIM:617591
5692	PSMB4	HP:0000988	Skin rash	-	OMIM:617591
5692	PSMB4	HP:0000956	Acanthosis nigricans	-	OMIM:617591
5692	PSMB4	HP:0002829	Arthralgia	-	OMIM:617591
5692	PSMB4	HP:0000246	Sinusitis	-	OMIM:617591
5692	PSMB4	HP:0001508	Failure to thrive	-	OMIM:617591
5692	PSMB4	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:617591
5692	PSMB4	HP:0012490	Panniculitis	-	OMIM:617591
5692	PSMB4	HP:0001744	Splenomegaly	-	OMIM:617591
5692	PSMB4	HP:0000509	Conjunctivitis	-	OMIM:617591
5692	PSMB4	HP:0001888	Decreased total lymphocyte count	-	OMIM:617591
5692	PSMB4	HP:0001873	Thrombocytopenia	-	OMIM:617591
5696	PSMB8	HP:0025131	Finger swelling	17/19	OMIM:256040
5696	PSMB8	HP:0100807	Long fingers	-	OMIM:256040
5696	PSMB8	HP:0001256	Intellectual disability, mild	3/12	OMIM:256040
5696	PSMB8	HP:0001250	Seizure	2/12	OMIM:256040
5696	PSMB8	HP:0001249	Intellectual disability	1/3	OMIM:256040
5696	PSMB8	HP:0001371	Flexion contracture	12/12	OMIM:256040
5696	PSMB8	HP:0000031	Epididymitis	2/5	OMIM:256040
5696	PSMB8	HP:0008887	Adipose tissue loss	-	OMIM:256040
5696	PSMB8	HP:0001324	Muscle weakness	-	OMIM:256040
5696	PSMB8	HP:0000007	Autosomal recessive inheritance	-	OMIM:256040
5696	PSMB8	HP:0002653	Bone pain	2/12	OMIM:256040
5696	PSMB8	HP:0001315	Reduced tendon reflexes	1/12	OMIM:256040
5696	PSMB8	HP:0000179	Thick lower lip vermilion	-	OMIM:256040
5696	PSMB8	HP:0000158	Macroglossia	5/15	OMIM:256040
5696	PSMB8	HP:0002788	Recurrent upper respiratory tract infections	1/9	OMIM:256040
5696	PSMB8	HP:0002716	Lymphadenopathy	7/9	OMIM:256040
5696	PSMB8	HP:0033178	Increased circulating interleukin 8 concentration	2/2	OMIM:256040
5696	PSMB8	HP:0100534	Episcleritis	4/9	OMIM:256040
5696	PSMB8	HP:0040270	Impaired glucose tolerance	-	OMIM:256040
5696	PSMB8	HP:0002155	Hypertriglyceridemia	6/21	OMIM:256040
5696	PSMB8	HP:0002135	Basal ganglia calcification	7/19	OMIM:256040
5696	PSMB8	HP:0100490	Camptodactyly of finger	-	OMIM:256040
5696	PSMB8	HP:0011850	Parotitis	2/9	OMIM:256040
5696	PSMB8	HP:0003593	Infantile onset	1/3	OMIM:256040
5696	PSMB8	HP:0002240	Hepatomegaly	19/24	OMIM:256040
5696	PSMB8	HP:0002216	Premature graying of hair	1/12	OMIM:256040
5696	PSMB8	HP:0002215	Sparse axillary hair	2/12	OMIM:256040
5696	PSMB8	HP:0003565	Elevated erythrocyte sedimentation rate	16/22	OMIM:256040
5696	PSMB8	HP:0010702	Increased circulating immunoglobulin concentration	6/12	OMIM:256040
5696	PSMB8	HP:0100759	Clubbing of fingers	-	OMIM:256040
5696	PSMB8	HP:0200035	Skin plaque	9/9	OMIM:256040
5696	PSMB8	HP:0010783	Erythema	-	OMIM:256040
5696	PSMB8	HP:0001954	Recurrent fever	12/12	OMIM:256040
5696	PSMB8	HP:0001935	Microcytic anemia	3/12	OMIM:256040
5696	PSMB8	HP:0004322	Short stature	11/12	OMIM:256040
5696	PSMB8	HP:0000771	Gynecomastia	1/6	OMIM:256040
5696	PSMB8	HP:0012785	Flexion contracture of finger	3/3	OMIM:256040
5696	PSMB8	HP:0011463	Childhood onset	2/3	OMIM:256040
5696	PSMB8	HP:0009125	Lipodystrophy	9/9	OMIM:256040
5696	PSMB8	HP:0011421	Death in adolescence	1/9	OMIM:256040
5696	PSMB8	HP:0030783	Increased circulating interleukin 6 concentration	2/2	OMIM:256040
5696	PSMB8	HP:0000882	Hypoplastic scapulae	1/12	OMIM:256040
5696	PSMB8	HP:0000858	Irregular menstruation	1/6	OMIM:256040
5696	PSMB8	HP:0003233	Decreased HDL cholesterol concentration	6/9	OMIM:256040
5696	PSMB8	HP:0003237	Increased circulating IgG concentration	3/3	OMIM:256040
5696	PSMB8	HP:0003202	Skeletal muscle atrophy	12/24	OMIM:256040
5696	PSMB8	HP:0005830	Flexion contracture of toe	-	OMIM:256040
5696	PSMB8	HP:0003261	Increased circulating IgA concentration	3/3	OMIM:256040
5696	PSMB8	HP:0000998	Hypertrichosis	5/9	OMIM:256040
5696	PSMB8	HP:0000953	Hyperpigmentation of the skin	-	OMIM:256040
5696	PSMB8	HP:0000956	Acanthosis nigricans	2/9	OMIM:256040
5696	PSMB8	HP:0011675	Arrhythmia	2/3	OMIM:256040
5696	PSMB8	HP:0000292	Loss of facial adipose tissue	-	OMIM:256040
5696	PSMB8	HP:0002829	Arthralgia	9/9	OMIM:256040
5696	PSMB8	HP:0012219	Erythema nodosum	3/3	OMIM:256040
5696	PSMB8	HP:0001538	Protuberant abdomen	7/9	OMIM:256040
5696	PSMB8	HP:0001508	Failure to thrive	15/19	OMIM:256040
5696	PSMB8	HP:0001507	Growth abnormality	-	OMIM:256040
5696	PSMB8	HP:0030053	Stiff skin	-	OMIM:256040
5696	PSMB8	HP:0001510	Growth delay	-	OMIM:256040
5696	PSMB8	HP:0007856	Punctate opacification of the cornea	1/12	OMIM:256040
5696	PSMB8	HP:0002910	Elevated circulating hepatic transaminase concentration	8/9	OMIM:256040
5696	PSMB8	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	2/9	OMIM:256040
5696	PSMB8	HP:0002987	Elbow flexion contracture	-	OMIM:256040
5696	PSMB8	HP:0001640	Cardiomegaly	-	OMIM:256040
5696	PSMB8	HP:0001635	Congestive heart failure	-	OMIM:256040
5696	PSMB8	HP:0012490	Panniculitis	-	OMIM:256040
5696	PSMB8	HP:0005328	Progeroid facial appearance	1/12	OMIM:256040
5696	PSMB8	HP:0000403	Recurrent otitis media	4/9	OMIM:256040
5696	PSMB8	HP:0000400	Macrotia	-	OMIM:256040
5696	PSMB8	HP:0012450	Chronic constipation	2/12	OMIM:256040
5696	PSMB8	HP:0011108	Recurrent sinusitis	2/9	OMIM:256040
5696	PSMB8	HP:0000448	Prominent nose	-	OMIM:256040
5696	PSMB8	HP:0001744	Splenomegaly	10/24	OMIM:256040
5696	PSMB8	HP:0000520	Proptosis	1/12	OMIM:256040
5696	PSMB8	HP:0001822	Hallux valgus	2/12	OMIM:256040
5696	PSMB8	HP:0000509	Conjunctivitis	4/9	OMIM:256040
5696	PSMB8	HP:0030356	Increased circulating interferon-gamma concentration	2/2	OMIM:256040
5696	PSMB8	HP:0011227	Elevated circulating C-reactive protein concentration	12/12	OMIM:256040
5696	PSMB8	HP:0001873	Thrombocytopenia	1/9	OMIM:256040
5698	PSMB9	HP:0410174	Increased circulating troponin T concentration	1/1	OMIM:620796
5698	PSMB9	HP:0001250	Seizure	1/1	OMIM:620796
5698	PSMB9	HP:0500271	Decreased gamma-delta T cell proportion	2/2	OMIM:620796
5698	PSMB9	HP:0001394	Cirrhosis	1/3	OMIM:620796
5698	PSMB9	HP:0033833	Elevated circulating soluble CD25 concentration	1/1	OMIM:620796
5698	PSMB9	HP:0031185	Increased circulating NT-proBNP concentration	1/2	OMIM:620796
5698	PSMB9	HP:0000006	Autosomal dominant inheritance	-	OMIM:620796
5698	PSMB9	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:620796
5698	PSMB9	HP:0001409	Portal hypertension	1/3	OMIM:620796
5698	PSMB9	HP:0033199	Increased circulating interleukin 10 concentration	1/2	OMIM:620796
5698	PSMB9	HP:0002092	Pulmonary arterial hypertension	3/3	OMIM:620796
5698	PSMB9	HP:0002090	Pneumonia	1/3	OMIM:620796
5698	PSMB9	HP:0033106	Elevated circulating D-dimer concentration	1/1	OMIM:620796
5698	PSMB9	HP:0034447	Increased circulating interleukin 18 concentration	2/2	OMIM:620796
5698	PSMB9	HP:0008151	Prolonged prothrombin time	1/1	OMIM:620796
5698	PSMB9	HP:0002135	Basal ganglia calcification	3/3	OMIM:620796
5698	PSMB9	HP:6000239	Elevated circulating tumor necrosis factor alpha concentration	1/2	OMIM:620796
5698	PSMB9	HP:0003593	Infantile onset	1/1	OMIM:620796
5698	PSMB9	HP:6000374	Increased circulating interleukin 1beta concentration	1/2	OMIM:620796
5698	PSMB9	HP:0100614	Myositis	3/3	OMIM:620796
5698	PSMB9	HP:0003623	Neonatal onset	2/2	OMIM:620796
5698	PSMB9	HP:0033438	Elevated circulating myoglobin concentration	1/1	OMIM:620796
5698	PSMB9	HP:0001974	Increased total leukocyte count	2/3	OMIM:620796
5698	PSMB9	HP:0001945	Fever	3/3	OMIM:620796
5698	PSMB9	HP:0004315	Decreased circulating IgG concentration	1/3	OMIM:620796
5698	PSMB9	HP:0031956	Elevated circulating aspartate aminotransferase concentration	3/3	OMIM:620796
5698	PSMB9	HP:0031964	Elevated circulating alanine aminotransferase concentration	3/3	OMIM:620796
5698	PSMB9	HP:0030783	Increased circulating interleukin 6 concentration	2/2	OMIM:620796
5698	PSMB9	HP:0003236	Elevated circulating creatine kinase concentration	3/3	OMIM:620796
5698	PSMB9	HP:0040218	Reduced total natural killer cell count	1/2	OMIM:620796
5698	PSMB9	HP:0003281	Increased circulating ferritin concentration	2/2	OMIM:620796
5698	PSMB9	HP:0000988	Skin rash	3/3	OMIM:620796
5698	PSMB9	HP:0002922	Increased CSF protein concentration	2/2	OMIM:620796
5698	PSMB9	HP:0030149	Cardiogenic shock	1/3	OMIM:620796
5698	PSMB9	HP:0001640	Cardiomegaly	1/3	OMIM:620796
5698	PSMB9	HP:0011171	Simple febrile seizure	1/3	OMIM:620796
5698	PSMB9	HP:0031545	Abnormally low T cell receptor excision circle level	0/2	OMIM:620796
5698	PSMB9	HP:0001744	Splenomegaly	1/3	OMIM:620796
5698	PSMB9	HP:0030356	Increased circulating interferon-gamma concentration	3/3	OMIM:620796
5698	PSMB9	HP:0011227	Elevated circulating C-reactive protein concentration	3/3	OMIM:620796
5698	PSMB9	HP:0001888	Decreased total lymphocyte count	2/3	OMIM:620796
5698	PSMB9	HP:0001876	Pancytopenia	2/3	OMIM:620796
5699	PSMB10	HP:0100806	Sepsis	HP:0040283	ORPHA:39041
5699	PSMB10	HP:0002583	Colitis	1/6	OMIM:620807
5699	PSMB10	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:39041
5699	PSMB10	HP:0410378	Decreased naive CD4-positive T cell proportion	6/6	OMIM:620807
5699	PSMB10	HP:0010976	Decreased total B cell count	6/6	OMIM:620807
5699	PSMB10	HP:0000047	Hypospadias	1/4	OMIM:620807
5699	PSMB10	HP:0007549	Desquamation of skin soon after birth	HP:0040282	ORPHA:39041
5699	PSMB10	HP:0000007	Autosomal recessive inheritance	-	OMIM:619175
5699	PSMB10	HP:0002665	Lymphoma	HP:0040283	ORPHA:39041
5699	PSMB10	HP:0000006	Autosomal dominant inheritance	-	OMIM:620807
5699	PSMB10	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:39041
5699	PSMB10	HP:0002719	Recurrent infections	2/2	OMIM:620807
5699	PSMB10	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:39041
5699	PSMB10	HP:0002716	Lymphadenopathy	2/6	OMIM:620807
5699	PSMB10	HP:0002720	Decreased circulating IgA concentration	1/6	OMIM:620807
5699	PSMB10	HP:0002721	Immunodeficiency	6/6	OMIM:620807
5699	PSMB10	HP:0002028	Chronic diarrhea	HP:0040281	ORPHA:39041
5699	PSMB10	HP:0002014	Diarrhea	6/6	OMIM:620807
5699	PSMB10	HP:0002090	Pneumonia	HP:0040282	ORPHA:39041
5699	PSMB10	HP:0002155	Hypertriglyceridemia	1/1	OMIM:619175
5699	PSMB10	HP:0033221	Increased CD4:CD8 ratio	5/6	OMIM:620807
5699	PSMB10	HP:0003593	Infantile onset	1/6	OMIM:620807
5699	PSMB10	HP:0003577	Congenital onset	1/6	OMIM:620807
5699	PSMB10	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:39041
5699	PSMB10	HP:0002240	Hepatomegaly	1/1	OMIM:619175
5699	PSMB10	HP:0002240	Hepatomegaly	2/6	OMIM:620807
5699	PSMB10	HP:0033331	Acute phase response	1/1	OMIM:619175
5699	PSMB10	HP:0001019	Erythroderma	HP:0040281	ORPHA:39041
5699	PSMB10	HP:0001019	Erythroderma	6/6	OMIM:620807
5699	PSMB10	HP:0100646	Thyroiditis	HP:0040283	ORPHA:39041
5699	PSMB10	HP:0001072	Thickened skin	HP:0040282	ORPHA:39041
5699	PSMB10	HP:0032132	Decreased circulating total IgG concentration	5/6	OMIM:620807
5699	PSMB10	HP:0020102	Pneumocystis jirovecii pneumonia	1/6	OMIM:620807
5699	PSMB10	HP:0003623	Neonatal onset	1/1	OMIM:619175
5699	PSMB10	HP:0003623	Neonatal onset	4/6	OMIM:620807
5699	PSMB10	HP:0009098	Chronic oral candidiasis	3/6	OMIM:620807
5699	PSMB10	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:39041
5699	PSMB10	HP:0001945	Fever	HP:0040282	ORPHA:39041
5699	PSMB10	HP:0001945	Fever	1/1	OMIM:619175
5699	PSMB10	HP:0001903	Anemia	HP:0040283	ORPHA:39041
5699	PSMB10	HP:0001999	Abnormal facial shape	0/4	OMIM:620807
5699	PSMB10	HP:0004332	Abnormal lymphocyte morphology	HP:0040281	ORPHA:39041
5699	PSMB10	HP:0004430	Severe combined immunodeficiency	HP:0040281	ORPHA:39041
5699	PSMB10	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:39041
5699	PSMB10	HP:0000989	Pruritus	HP:0040282	ORPHA:39041
5699	PSMB10	HP:0000988	Skin rash	1/1	OMIM:619175
5699	PSMB10	HP:0000958	Dry skin	HP:0040282	ORPHA:39041
5699	PSMB10	HP:0000969	Edema	HP:0040282	ORPHA:39041
5699	PSMB10	HP:0000944	Abnormal metaphysis morphology	HP:0040283	ORPHA:39041
5699	PSMB10	HP:0001596	Alopecia	HP:0040281	ORPHA:39041
5699	PSMB10	HP:0001596	Alopecia	4/5	OMIM:620807
5699	PSMB10	HP:0001531	Failure to thrive in infancy	1/1	OMIM:619175
5699	PSMB10	HP:0001508	Failure to thrive	5/6	OMIM:620807
5699	PSMB10	HP:0001508	Failure to thrive	HP:0040281	ORPHA:39041
5699	PSMB10	HP:0002850	Decreased circulating total IgM	2/6	OMIM:620807
5699	PSMB10	HP:0031381	Decreased mitogen-induced T-cell proliferation	6/6	OMIM:620807
5699	PSMB10	HP:0002960	Autoimmunity	HP:0040283	ORPHA:39041
5699	PSMB10	HP:0000307	Pointed chin	1/5	OMIM:620807
5699	PSMB10	HP:0031545	Abnormally low T cell receptor excision circle level	1/1	OMIM:620807
5699	PSMB10	HP:0000411	Protruding ear	1/5	OMIM:620807
5699	PSMB10	HP:0001744	Splenomegaly	HP:0040282	ORPHA:39041
5699	PSMB10	HP:0001744	Splenomegaly	1/1	OMIM:619175
5699	PSMB10	HP:0005403	Decreased total T cell count	6/6	OMIM:620807
5699	PSMB10	HP:0001831	Short toe	HP:0040283	ORPHA:39041
5699	PSMB10	HP:0001880	Increased total eosinophil count	HP:0040282	ORPHA:39041
5699	PSMB10	HP:0001880	Increased total eosinophil count	5/6	OMIM:620807
5700	PSMC1	HP:0010864	Intellectual disability, severe	1/1	OMIM:620071
5700	PSMC1	HP:0002540	Inability to walk	3/3	OMIM:620071
5700	PSMC1	HP:0002510	Spastic tetraplegia	3/3	OMIM:620071
5700	PSMC1	HP:0000081	Duplicated collecting system	1/3	OMIM:620071
5700	PSMC1	HP:0000054	Micropenis	3/3	OMIM:620071
5700	PSMC1	HP:0000028	Cryptorchidism	3/3	OMIM:620071
5700	PSMC1	HP:0001344	Absent speech	3/3	OMIM:620071
5700	PSMC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620071
5700	PSMC1	HP:0008936	Axial hypotonia	3/3	OMIM:620071
5700	PSMC1	HP:0011800	Midface retrusion	3/3	OMIM:620071
5700	PSMC1	HP:0002072	Chorea	2/2	OMIM:620071
5700	PSMC1	HP:0033142	Long nasal bridge	3/3	OMIM:620071
5700	PSMC1	HP:0003593	Infantile onset	3/3	OMIM:620071
5700	PSMC1	HP:0033454	Tube feeding	2/3	OMIM:620071
5700	PSMC1	HP:0006844	Absent patellar reflexes	3/3	OMIM:620071
5700	PSMC1	HP:0001972	Macrocytic anemia	3/3	OMIM:620071
5700	PSMC1	HP:0011623	Muscular ventricular septal defect	1/3	OMIM:620071
5700	PSMC1	HP:0000268	Dolichocephaly	3/3	OMIM:620071
5700	PSMC1	HP:0000252	Microcephaly	3/3	OMIM:620071
5700	PSMC1	HP:0001508	Failure to thrive	3/3	OMIM:620071
5700	PSMC1	HP:0000365	Hearing impairment	3/3	OMIM:620071
5700	PSMC1	HP:0000347	Micrognathia	3/3	OMIM:620071
5700	PSMC1	HP:0000574	Thick eyebrow	3/3	OMIM:620071
5702	PSMC3	HP:0009938	Sunken cheeks	3/3	OMIM:619354
5702	PSMC3	HP:0001271	Polyneuropathy	2/3	OMIM:619354
5702	PSMC3	HP:0100830	Round ear	1/3	OMIM:619354
5702	PSMC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619354
5702	PSMC3	HP:0007618	Subcutaneous calcification	3/3	OMIM:619354
5702	PSMC3	HP:0003577	Congenital onset	3/3	OMIM:619354
5702	PSMC3	HP:0011344	Severe global developmental delay	2/3	OMIM:619354
5702	PSMC3	HP:0011343	Moderate global developmental delay	1/3	OMIM:619354
5702	PSMC3	HP:0000664	Synophrys	1/3	OMIM:619354
5702	PSMC3	HP:0000729	Autistic behavior	2/3	OMIM:619354
5702	PSMC3	HP:0000272	Malar flattening	3/3	OMIM:619354
5702	PSMC3	HP:0000365	Hearing impairment	3/3	OMIM:619354
5702	PSMC3	HP:0000336	Prominent supraorbital ridges	3/3	OMIM:619354
5702	PSMC3	HP:0000322	Short philtrum	2/3	OMIM:619354
5702	PSMC3	HP:0000486	Strabismus	2/3	OMIM:619354
5702	PSMC3	HP:0000519	Developmental cataract	3/3	OMIM:619354
5718	PSMD12	HP:0008607	Progressive conductive hearing impairment	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0008551	Microtia	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0001270	Motor delay	2/4	OMIM:617516
5718	PSMD12	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:529962
5718	PSMD12	HP:0001250	Seizure	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0001250	Seizure	3/10	OMIM:617516
5718	PSMD12	HP:0001252	Hypotonia	2/3	OMIM:617516
5718	PSMD12	HP:0001249	Intellectual disability	4/4	OMIM:617516
5718	PSMD12	HP:0001263	Global developmental delay	4/4	OMIM:617516
5718	PSMD12	HP:0000076	Vesicoureteral reflux	HP:0040284	ORPHA:529962
5718	PSMD12	HP:0000073	Ureteral duplication	1/4	OMIM:617516
5718	PSMD12	HP:0000041	Chordee	1/4	OMIM:617516
5718	PSMD12	HP:0000054	Micropenis	2/4	OMIM:617516
5718	PSMD12	HP:0000047	Hypospadias	1/4	OMIM:617516
5718	PSMD12	HP:0000049	Shawl scrotum	1/4	OMIM:617516
5718	PSMD12	HP:0000028	Cryptorchidism	1/3	OMIM:617516
5718	PSMD12	HP:0000006	Autosomal dominant inheritance	-	OMIM:617516
5718	PSMD12	HP:0002650	Scoliosis	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0008935	Generalized neonatal hypotonia	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0002783	Recurrent lower respiratory tract infections	1/3	OMIM:617516
5718	PSMD12	HP:0011800	Midface retrusion	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0004736	Crossed fused renal ectopia	1/4	OMIM:617516
5718	PSMD12	HP:0003577	Congenital onset	3/4	OMIM:617516
5718	PSMD12	HP:0100704	Cerebral visual impairment	1/3	OMIM:617516
5718	PSMD12	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0011968	Feeding difficulties	2/4	OMIM:617516
5718	PSMD12	HP:0009824	Upper limb undergrowth	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0200053	Hemihypotrophy of lower limb	HP:0040283	ORPHA:529962
5718	PSMD12	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0009777	Absent thumb	1/4	OMIM:617516
5718	PSMD12	HP:0009778	Short thumb	1/4	OMIM:617516
5718	PSMD12	HP:0000639	Nystagmus	1/3	OMIM:617516
5718	PSMD12	HP:0001956	Truncal obesity	HP:0040281	ORPHA:529962
5718	PSMD12	HP:0012683	Pineal cyst	1/3	OMIM:617516
5718	PSMD12	HP:0012683	Pineal cyst	HP:0040284	ORPHA:529962
5718	PSMD12	HP:0000692	Tooth malposition	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0011304	Broad thumb	HP:0040283	ORPHA:529962
5718	PSMD12	HP:0000664	Synophrys	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0003028	Abnormality of the ankle	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0003019	Abnormality of the wrist	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0000738	Hallucinations	HP:0040283	ORPHA:529962
5718	PSMD12	HP:0000739	Anxiety	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:529962
5718	PSMD12	HP:0000750	Delayed speech and language development	3/4	OMIM:617516
5718	PSMD12	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:529962
5718	PSMD12	HP:0000712	Emotional lability	HP:0040283	ORPHA:529962
5718	PSMD12	HP:0000729	Autistic behavior	3/4	OMIM:617516
5718	PSMD12	HP:0000708	Atypical behavior	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0011463	Childhood onset	1/4	OMIM:617516
5718	PSMD12	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:529962
5718	PSMD12	HP:0000824	Decreased response to growth hormone stimulation test	-	ORPHA:529962
5718	PSMD12	HP:0011648	Patent ductus arteriosus after birth at term	HP:0040283	ORPHA:529962
5718	PSMD12	HP:0000960	Sacral dimple	1/3	OMIM:617516
5718	PSMD12	HP:0000278	Retrognathia	1/3	OMIM:617516
5718	PSMD12	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0000362	Otosclerosis	HP:0040283	ORPHA:529962
5718	PSMD12	HP:0000365	Hearing impairment	2/4	OMIM:617516
5718	PSMD12	HP:0000358	Posteriorly rotated ears	2/3	OMIM:617516
5718	PSMD12	HP:0000369	Low-set ears	3/3	OMIM:617516
5718	PSMD12	HP:0000347	Micrognathia	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0000347	Micrognathia	1/3	OMIM:617516
5718	PSMD12	HP:0000316	Hypertelorism	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0000316	Hypertelorism	1/3	OMIM:617516
5718	PSMD12	HP:0001643	Patent ductus arteriosus	2/4	OMIM:617516
5718	PSMD12	HP:0001642	Pulmonic stenosis	HP:0040284	ORPHA:529962
5718	PSMD12	HP:0001660	Truncus arteriosus	1/4	OMIM:617516
5718	PSMD12	HP:0001657	Prolonged QT interval	HP:0040283	ORPHA:529962
5718	PSMD12	HP:0000322	Short philtrum	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0000325	Triangular face	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0000324	Facial asymmetry	1/3	OMIM:617516
5718	PSMD12	HP:0001629	Ventricular septal defect	1/4	OMIM:617516
5718	PSMD12	HP:0002967	Cubitus valgus	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0001631	Atrial septal defect	1/4	OMIM:617516
5718	PSMD12	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0000486	Strabismus	1/3	OMIM:617516
5718	PSMD12	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0000490	Deeply set eye	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0000475	Broad neck	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0000470	Short neck	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0000448	Prominent nose	1/3	OMIM:617516
5718	PSMD12	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0000508	Ptosis	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0000574	Thick eyebrow	HP:0040282	ORPHA:529962
5718	PSMD12	HP:0000545	Myopia	HP:0040282	ORPHA:529962
5723	PSPH	HP:0001276	Hypertonia	-	OMIM:614023
5723	PSPH	HP:0001276	Hypertonia	HP:0040283	ORPHA:79350
5723	PSPH	HP:0001250	Seizure	7/7	OMIM:614023
5723	PSPH	HP:0001249	Intellectual disability	7/7	OMIM:614023
5723	PSPH	HP:0001263	Global developmental delay	HP:0040282	ORPHA:79350
5723	PSPH	HP:0001263	Global developmental delay	1/1	OMIM:614023
5723	PSPH	HP:0000047	Hypospadias	HP:0040283	ORPHA:79350
5723	PSPH	HP:0008897	Postnatal growth retardation	1/1	OMIM:614023
5723	PSPH	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:79350
5723	PSPH	HP:0000007	Autosomal recessive inheritance	-	OMIM:614023
5723	PSPH	HP:0000154	Wide mouth	HP:0040283	ORPHA:79350
5723	PSPH	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:79350
5723	PSPH	HP:0100540	Palpebral edema	HP:0040283	ORPHA:79350
5723	PSPH	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:79350
5723	PSPH	HP:0002059	Cerebral atrophy	1/1	OMIM:614023
5723	PSPH	HP:0003593	Infantile onset	-	OMIM:614023
5723	PSPH	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:79350
5723	PSPH	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:79350
5723	PSPH	HP:0100633	Esophagitis	HP:0040283	ORPHA:79350
5723	PSPH	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:79350
5723	PSPH	HP:0012279	Hyposerinemia	HP:0040282	ORPHA:79350
5723	PSPH	HP:0012279	Hyposerinemia	1/1	OMIM:614023
5723	PSPH	HP:0000293	Full cheeks	HP:0040283	ORPHA:79350
5723	PSPH	HP:0000252	Microcephaly	HP:0040283	ORPHA:79350
5723	PSPH	HP:0000252	Microcephaly	1/7	OMIM:614023
5723	PSPH	HP:0001511	Intrauterine growth retardation	1/1	OMIM:614023
5723	PSPH	HP:0000341	Narrow forehead	HP:0040283	ORPHA:79350
5723	PSPH	HP:0000337	Broad forehead	HP:0040283	ORPHA:79350
5723	PSPH	HP:0000347	Micrognathia	HP:0040283	ORPHA:79350
5727	PTCH1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:377
5727	PTCH1	HP:0001156	Brachydactyly	-	OMIM:109400
5727	PTCH1	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:377
5727	PTCH1	HP:0002465	Poor speech	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0002465	Poor speech	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0002465	Poor speech	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0002465	Poor speech	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0001144	Orbital cyst	-	OMIM:109400
5727	PTCH1	HP:0002474	Expressive language delay	HP:0040282	ORPHA:280195
5727	PTCH1	HP:0002436	Occipital meningocele	1/4	OMIM:610828
5727	PTCH1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0002451	Limb dystonia	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0009932	Single naris	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0009932	Single naris	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0009932	Single naris	HP:0040284	ORPHA:93924
5727	PTCH1	HP:0009932	Single naris	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0009914	Cyclopia	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0009914	Cyclopia	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0009914	Cyclopia	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0009914	Cyclopia	HP:0040284	ORPHA:93924
5727	PTCH1	HP:0009914	Cyclopia	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0009891	Underdeveloped supraorbital ridges	1/4	OMIM:610828
5727	PTCH1	HP:0009894	Thickened ears	HP:0040282	ORPHA:77301
5727	PTCH1	HP:0002418	Abnormal midbrain morphology	HP:0040282	ORPHA:280195
5727	PTCH1	HP:0002414	Spina bifida	-	OMIM:109400
5727	PTCH1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:280195
5727	PTCH1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0001274	Agenesis of corpus callosum	2/12	OMIM:610828
5727	PTCH1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:280195
5727	PTCH1	HP:0001270	Motor delay	-	OMIM:109400
5727	PTCH1	HP:0001254	Lethargy	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0001254	Lethargy	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0001254	Lethargy	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0001254	Lethargy	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0001250	Seizure	-	OMIM:610828
5727	PTCH1	HP:0001250	Seizure	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0001250	Seizure	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0001250	Seizure	HP:0040282	ORPHA:77301
5727	PTCH1	HP:0001250	Seizure	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0001250	Seizure	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0001250	Seizure	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0001252	Hypotonia	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:377
5727	PTCH1	HP:0001249	Intellectual disability	HP:0040283	OMIM:109400
5727	PTCH1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280195
5727	PTCH1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280200
5727	PTCH1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0001263	Global developmental delay	7/12	OMIM:610828
5727	PTCH1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0001257	Spasticity	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0001257	Spasticity	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0001257	Spasticity	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0001257	Spasticity	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0007375	Abnormal septum pellucidum morphology	HP:0040283	ORPHA:280195
5727	PTCH1	HP:0007330	Frontoethmoidal encephalocele	HP:0040283	ORPHA:280195
5727	PTCH1	HP:0002540	Inability to walk	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0002540	Inability to walk	HP:0040284	ORPHA:93924
5727	PTCH1	HP:0002540	Inability to walk	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0002540	Inability to walk	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0002514	Cerebral calcification	HP:0040281	ORPHA:377
5727	PTCH1	HP:0003829	Typified by incomplete penetrance	-	OMIM:610828
5727	PTCH1	HP:0002507	Semilobar holoprosencephaly	-	OMIM:610828
5727	PTCH1	HP:0000098	Tall stature	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:377
5727	PTCH1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0001371	Flexion contracture	HP:0040284	ORPHA:93924
5727	PTCH1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:77301
5727	PTCH1	HP:0001355	Megalencephaly	HP:0040283	ORPHA:280195
5727	PTCH1	HP:0025318	Ovarian carcinoma	-	OMIM:109400
5727	PTCH1	HP:0001360	Holoprosencephaly	4/8	OMIM:610828
5727	PTCH1	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:377
5727	PTCH1	HP:0002664	Neoplasm	HP:0040281	ORPHA:377
5727	PTCH1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:280195
5727	PTCH1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0001344	Absent speech	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0001344	Absent speech	HP:0040284	ORPHA:93924
5727	PTCH1	HP:0001344	Absent speech	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0001344	Absent speech	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0002671	Basal cell carcinoma	-	OMIM:605462
5727	PTCH1	HP:0002671	Basal cell carcinoma	HP:0040282	ORPHA:377
5727	PTCH1	HP:0002671	Basal cell carcinoma	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0002671	Basal cell carcinoma	-	OMIM:109400
5727	PTCH1	HP:0001338	Partial agenesis of the corpus callosum	1/8	OMIM:610828
5727	PTCH1	HP:0002667	Nephroblastoma	HP:0040283	ORPHA:77301
5727	PTCH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:610828
5727	PTCH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:109400
5727	PTCH1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0002650	Scoliosis	HP:0040282	ORPHA:377
5727	PTCH1	HP:0002650	Scoliosis	-	OMIM:109400
5727	PTCH1	HP:0002650	Scoliosis	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0002650	Scoliosis	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0000161	Median cleft upper lip	3/12	OMIM:610828
5727	PTCH1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0000160	Narrow mouth	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0000175	Cleft palate	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0000175	Cleft palate	1/4	OMIM:610828
5727	PTCH1	HP:0000175	Cleft palate	-	OMIM:109400
5727	PTCH1	HP:0000175	Cleft palate	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:280200
5727	PTCH1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0006315	Solitary median maxillary central incisor	2/12	OMIM:610828
5727	PTCH1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0006315	Solitary median maxillary central incisor	HP:0040284	ORPHA:93924
5727	PTCH1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0007633	Bilateral microphthalmos	-	OMIM:610828
5727	PTCH1	HP:0008947	Floppy infant	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0008947	Floppy infant	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0008947	Floppy infant	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0008947	Floppy infant	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:280195
5727	PTCH1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0002793	Abnormal pattern of respiration	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0000104	Renal agenesis	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0002751	Kyphoscoliosis	-	OMIM:109400
5727	PTCH1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0002019	Constipation	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0002019	Constipation	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0002019	Constipation	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0002019	Constipation	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0002033	Poor suck	HP:0040281	ORPHA:93926
5727	PTCH1	HP:0002033	Poor suck	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0002033	Poor suck	HP:0040281	ORPHA:93925
5727	PTCH1	HP:0002033	Poor suck	HP:0040281	ORPHA:220386
5727	PTCH1	HP:0002015	Dysphagia	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0002015	Dysphagia	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0002015	Dysphagia	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0002015	Dysphagia	HP:0040283	ORPHA:280195
5727	PTCH1	HP:0002015	Dysphagia	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0002013	Vomiting	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0002013	Vomiting	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0002013	Vomiting	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0002013	Vomiting	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0002007	Frontal bossing	-	OMIM:610828
5727	PTCH1	HP:0002007	Frontal bossing	HP:0040283	ORPHA:377
5727	PTCH1	HP:0002007	Frontal bossing	20/20	OMIM:109400
5727	PTCH1	HP:0005968	Temperature instability	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0005968	Temperature instability	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0005968	Temperature instability	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0005968	Temperature instability	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0011803	Bifid nose	1/4	OMIM:610828
5727	PTCH1	HP:0011800	Midface retrusion	-	OMIM:610828
5727	PTCH1	HP:0002099	Asthma	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0010442	Polydactyly	HP:0040282	ORPHA:77301
5727	PTCH1	HP:0010442	Polydactyly	-	OMIM:109400
5727	PTCH1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280195
5727	PTCH1	HP:0003468	Abnormal vertebral morphology	HP:0040283	ORPHA:377
5727	PTCH1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:77301
5727	PTCH1	HP:0004795	Hamartomatous stomach polyps	-	OMIM:109400
5727	PTCH1	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0010609	Skin tags	-	OMIM:109400
5727	PTCH1	HP:0010603	Odontogenic keratocysts of the jaw	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0010603	Odontogenic keratocysts of the jaw	HP:0040282	ORPHA:377
5727	PTCH1	HP:0010603	Odontogenic keratocysts of the jaw	-	OMIM:109400
5727	PTCH1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0003577	Congenital onset	10/10	OMIM:610828
5727	PTCH1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0100710	Impulsivity	HP:0040282	ORPHA:280195
5727	PTCH1	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0009729	Cardiac rhabdomyoma	-	OMIM:109400
5727	PTCH1	HP:0009730	Rhabdomyoma	-	OMIM:109400
5727	PTCH1	HP:0010664	Fusion of the left and right thalami	1/8	OMIM:610828
5727	PTCH1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0010654	Aplasia of the falx cerebri	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0010649	Flat nasal alae	-	OMIM:610828
5727	PTCH1	HP:0010644	Midnasal stenosis	HP:0040281	ORPHA:280200
5727	PTCH1	HP:0010650	Hypoplasia of the premaxilla	-	OMIM:610828
5727	PTCH1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93926
5727	PTCH1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93924
5727	PTCH1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93925
5727	PTCH1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:220386
5727	PTCH1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0009650	Short distal phalanx of the thumb	-	OMIM:109400
5727	PTCH1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0010618	Ovarian fibroma	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0010618	Ovarian fibroma	HP:0040283	ORPHA:377
5727	PTCH1	HP:0010618	Ovarian fibroma	-	OMIM:109400
5727	PTCH1	HP:0010617	Cardiac fibroma	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0010617	Cardiac fibroma	HP:0040284	ORPHA:377
5727	PTCH1	HP:0010617	Cardiac fibroma	-	OMIM:109400
5727	PTCH1	HP:0010610	Palmar pits	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0010610	Palmar pits	HP:0040281	ORPHA:377
5727	PTCH1	HP:0010610	Palmar pits	-	OMIM:109400
5727	PTCH1	HP:0010612	Plantar pits	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0010612	Plantar pits	HP:0040281	ORPHA:377
5727	PTCH1	HP:0010612	Plantar pits	-	OMIM:109400
5727	PTCH1	HP:0001056	Milia	-	OMIM:109400
5727	PTCH1	HP:0002365	Hypoplasia of the brainstem	1/4	OMIM:610828
5727	PTCH1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0001028	Hemangioma	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0200021	Down-sloping shoulders	-	OMIM:109400
5727	PTCH1	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:280200
5727	PTCH1	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0008422	Vertebral wedging	HP:0040282	ORPHA:377
5727	PTCH1	HP:0008422	Vertebral wedging	-	OMIM:109400
5727	PTCH1	HP:0002308	Chiari malformation	HP:0040282	ORPHA:77301
5727	PTCH1	HP:0006870	Lobar holoprosencephaly	1/4	OMIM:610828
5727	PTCH1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0009099	Median cleft palate	3/12	OMIM:610828
5727	PTCH1	HP:0004280	Irregular ossification of hand bones	-	OMIM:109400
5727	PTCH1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0000612	Iris coloboma	-	OMIM:109400
5727	PTCH1	HP:0000612	Iris coloboma	1/4	OMIM:610828
5727	PTCH1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:377
5727	PTCH1	HP:0000601	Hypotelorism	HP:0040282	ORPHA:280200
5727	PTCH1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93926
5727	PTCH1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93924
5727	PTCH1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93925
5727	PTCH1	HP:0000601	Hypotelorism	5/12	OMIM:610828
5727	PTCH1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:220386
5727	PTCH1	HP:0010044	Short 4th metacarpal	-	OMIM:109400
5727	PTCH1	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:77301
5727	PTCH1	HP:0011330	Metopic synostosis	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0012650	Perisylvian polymicrogyria	HP:0040283	ORPHA:280195
5727	PTCH1	HP:0000670	Carious teeth	HP:0040283	ORPHA:377
5727	PTCH1	HP:0000664	Synophrys	1/4	OMIM:610828
5727	PTCH1	HP:0006988	Alobar holoprosencephaly	2/4	OMIM:610828
5727	PTCH1	HP:0004322	Short stature	HP:0040281	ORPHA:220386
5727	PTCH1	HP:0004322	Short stature	HP:0040282	ORPHA:280200
5727	PTCH1	HP:0004322	Short stature	HP:0040281	ORPHA:93926
5727	PTCH1	HP:0004322	Short stature	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0004322	Short stature	HP:0040281	ORPHA:93925
5727	PTCH1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0005616	Accelerated skeletal maturation	HP:0040282	ORPHA:77301
5727	PTCH1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0031913	Rhombencephalosynapsis	HP:0040283	ORPHA:280195
5727	PTCH1	HP:0000752	Hyperactivity	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:280195
5727	PTCH1	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:377
5727	PTCH1	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0000766	Abnormal sternum morphology	-	OMIM:109400
5727	PTCH1	HP:0000737	Irritability	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0000737	Irritability	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0000737	Irritability	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0000737	Irritability	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0000739	Anxiety	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0000739	Anxiety	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0000739	Anxiety	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0000739	Anxiety	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0000736	Short attention span	HP:0040282	ORPHA:280195
5727	PTCH1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0000741	Apathy	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0000741	Apathy	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0000741	Apathy	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0000741	Apathy	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0000716	Depression	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0000716	Depression	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0000716	Depression	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0000716	Depression	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:280195
5727	PTCH1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0000773	Short ribs	-	OMIM:109400
5727	PTCH1	HP:0004408	Abnormality of the sense of smell	HP:0040283	ORPHA:377
5727	PTCH1	HP:0003196	Short nose	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0003196	Short nose	1/4	OMIM:610828
5727	PTCH1	HP:0003196	Short nose	HP:0040282	ORPHA:77301
5727	PTCH1	HP:0000912	Sprengel anomaly	-	OMIM:109400
5727	PTCH1	HP:0000925	Abnormality of the vertebral column	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0000907	Anterior rib cupping	HP:0040282	ORPHA:377
5727	PTCH1	HP:0000902	Rib fusion	HP:0040282	ORPHA:377
5727	PTCH1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0000873	Diabetes insipidus	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0000892	Bifid ribs	HP:0040282	ORPHA:377
5727	PTCH1	HP:0000892	Bifid ribs	-	OMIM:109400
5727	PTCH1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0000871	Panhypopituitarism	1/8	OMIM:610828
5727	PTCH1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0000863	Central diabetes insipidus	HP:0040282	ORPHA:280195
5727	PTCH1	HP:0100333	Unilateral cleft lip	2/4	OMIM:610828
5727	PTCH1	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:280195
5727	PTCH1	HP:0100336	Bilateral cleft lip	2/8	OMIM:610828
5727	PTCH1	HP:0100337	Bilateral cleft palate	1/8	OMIM:610828
5727	PTCH1	HP:0100334	Unilateral cleft palate	1/4	OMIM:610828
5727	PTCH1	HP:0012806	Proboscis	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0012806	Proboscis	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0012806	Proboscis	HP:0040284	ORPHA:93924
5727	PTCH1	HP:0012806	Proboscis	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0000826	Precocious puberty	HP:0040282	ORPHA:280195
5727	PTCH1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0000995	Melanocytic nevus	HP:0040281	ORPHA:377
5727	PTCH1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0045005	Neural tube defect	HP:0040284	ORPHA:93924
5727	PTCH1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0005815	Supernumerary ribs	-	OMIM:109400
5727	PTCH1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0000286	Epicanthus	HP:0040283	ORPHA:377
5727	PTCH1	HP:0000286	Epicanthus	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0000283	Broad face	-	OMIM:610828
5727	PTCH1	HP:0000283	Broad face	-	OMIM:109400
5727	PTCH1	HP:0000280	Coarse facial features	HP:0040283	ORPHA:377
5727	PTCH1	HP:0000280	Coarse facial features	-	OMIM:109400
5727	PTCH1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0000256	Macrocephaly	-	OMIM:610828
5727	PTCH1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:377
5727	PTCH1	HP:0000256	Macrocephaly	-	OMIM:109400
5727	PTCH1	HP:0000256	Macrocephaly	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0000267	Cranial asymmetry	1/4	OMIM:610828
5727	PTCH1	HP:0005104	Hypoplastic nasal septum	1/4	OMIM:610828
5727	PTCH1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0002808	Kyphosis	HP:0040282	ORPHA:77301
5727	PTCH1	HP:0000242	Parietal bossing	-	OMIM:610828
5727	PTCH1	HP:0000242	Parietal bossing	-	OMIM:109400
5727	PTCH1	HP:0000243	Trigonocephaly	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0000238	Hydrocephalus	1/8	OMIM:610828
5727	PTCH1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:377
5727	PTCH1	HP:0000238	Hydrocephalus	-	OMIM:109400
5727	PTCH1	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:77301
5727	PTCH1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0000252	Microcephaly	3/4	OMIM:610828
5727	PTCH1	HP:0000252	Microcephaly	HP:0040283	ORPHA:280195
5727	PTCH1	HP:0000252	Microcephaly	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0000252	Microcephaly	HP:0040282	ORPHA:280200
5727	PTCH1	HP:0000252	Microcephaly	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0000252	Microcephaly	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0000252	Microcephaly	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0000248	Brachycephaly	HP:0040283	ORPHA:377
5727	PTCH1	HP:0000218	High palate	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0000218	High palate	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0000218	High palate	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0000218	High palate	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:280195
5727	PTCH1	HP:0002885	Medulloblastoma	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0002885	Medulloblastoma	HP:0040284	ORPHA:377
5727	PTCH1	HP:0002885	Medulloblastoma	-	OMIM:109400
5727	PTCH1	HP:0002858	Meningioma	HP:0040283	ORPHA:377
5727	PTCH1	HP:0002859	Rhabdomyosarcoma	HP:0040283	ORPHA:77301
5727	PTCH1	HP:0002871	Central apnea	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0002871	Central apnea	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0002871	Central apnea	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0002871	Central apnea	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0001537	Umbilical hernia	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0001539	Omphalocele	1/8	OMIM:610828
5727	PTCH1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:377
5727	PTCH1	HP:0000202	Orofacial cleft	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0000204	Cleft upper lip	-	OMIM:109400
5727	PTCH1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93926
5727	PTCH1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93925
5727	PTCH1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:220386
5727	PTCH1	HP:0001520	Large for gestational age	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:280200
5727	PTCH1	HP:0001510	Growth delay	HP:0040281	ORPHA:93926
5727	PTCH1	HP:0001510	Growth delay	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0001510	Growth delay	HP:0040281	ORPHA:93925
5727	PTCH1	HP:0001510	Growth delay	HP:0040281	ORPHA:220386
5727	PTCH1	HP:0012368	Flat face	1/4	OMIM:610828
5727	PTCH1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0002937	Hemivertebrae	HP:0040283	ORPHA:377
5727	PTCH1	HP:0002937	Hemivertebrae	-	OMIM:109400
5727	PTCH1	HP:0002948	Vertebral fusion	HP:0040282	ORPHA:377
5727	PTCH1	HP:0002948	Vertebral fusion	-	OMIM:109400
5727	PTCH1	HP:0000369	Low-set ears	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0000343	Long philtrum	HP:0040282	ORPHA:77301
5727	PTCH1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:280195
5727	PTCH1	HP:0000316	Hypertelorism	1/4	OMIM:610828
5727	PTCH1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:377
5727	PTCH1	HP:0000316	Hypertelorism	-	OMIM:109400
5727	PTCH1	HP:0000322	Short philtrum	HP:0040282	ORPHA:280200
5727	PTCH1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93926
5727	PTCH1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93924
5727	PTCH1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93925
5727	PTCH1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:220386
5727	PTCH1	HP:0001622	Premature birth	HP:0040282	ORPHA:280200
5727	PTCH1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:377
5727	PTCH1	HP:0000303	Mandibular prognathia	-	OMIM:109400
5727	PTCH1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0000400	Macrotia	3/4	OMIM:610828
5727	PTCH1	HP:0005273	Absent nasal septal cartilage	2/4	OMIM:610828
5727	PTCH1	HP:0000486	Strabismus	HP:0040283	ORPHA:377
5727	PTCH1	HP:0000486	Strabismus	-	OMIM:109400
5727	PTCH1	HP:0000486	Strabismus	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0000486	Strabismus	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93926
5727	PTCH1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93925
5727	PTCH1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:220386
5727	PTCH1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:77301
5727	PTCH1	HP:0000488	Retinopathy	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0000464	Abnormality of the neck	HP:0040282	ORPHA:377
5727	PTCH1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:280200
5727	PTCH1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93926
5727	PTCH1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93924
5727	PTCH1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93925
5727	PTCH1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:220386
5727	PTCH1	HP:0000470	Short neck	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0000437	Depressed nasal tip	HP:0040283	OMIM:610828
5727	PTCH1	HP:0000453	Choanal atresia	HP:0040281	ORPHA:280200
5727	PTCH1	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:280200
5727	PTCH1	HP:0000431	Wide nasal bridge	1/4	OMIM:610828
5727	PTCH1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:377
5727	PTCH1	HP:0000431	Wide nasal bridge	-	OMIM:109400
5727	PTCH1	HP:0004122	Midline defect of the nose	-	OMIM:610828
5727	PTCH1	HP:0005449	Bridged sella turcica	HP:0040283	ORPHA:377
5727	PTCH1	HP:0005449	Bridged sella turcica	-	OMIM:109400
5727	PTCH1	HP:0005469	Flat occiput	-	OMIM:610828
5727	PTCH1	HP:0005462	Calcification of falx cerebri	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0005462	Calcification of falx cerebri	HP:0040282	ORPHA:377
5727	PTCH1	HP:0005462	Calcification of falx cerebri	-	OMIM:109400
5727	PTCH1	HP:0000518	Cataract	HP:0040283	ORPHA:377
5727	PTCH1	HP:0000518	Cataract	-	OMIM:109400
5727	PTCH1	HP:0000518	Cataract	HP:0040281	ORPHA:77301
5727	PTCH1	HP:0000506	Telecanthus	HP:0040283	ORPHA:377
5727	PTCH1	HP:0000501	Glaucoma	HP:0040283	ORPHA:377
5727	PTCH1	HP:0000501	Glaucoma	-	OMIM:109400
5727	PTCH1	HP:0000582	Upslanted palpebral fissure	4/12	OMIM:610828
5727	PTCH1	HP:0000586	Shallow orbits	1/4	OMIM:610828
5727	PTCH1	HP:0000568	Microphthalmia	2/4	OMIM:610828
5727	PTCH1	HP:0000568	Microphthalmia	-	OMIM:109400
5727	PTCH1	HP:0000568	Microphthalmia	HP:0040281	ORPHA:77301
5728	PTEN	HP:0001177	Preaxial hand polydactyly	HP:0040284	ORPHA:210548
5728	PTEN	HP:0001156	Brachydactyly	HP:0040283	ORPHA:201
5728	PTEN	HP:0001161	Hand polydactyly	HP:0040281	ORPHA:65285
5728	PTEN	HP:0001140	Limbal dermoid	HP:0040281	ORPHA:2969
5728	PTEN	HP:0001100	Heterochromia iridis	HP:0040282	ORPHA:2969
5728	PTEN	HP:0003764	Nevus	HP:0040281	ORPHA:109
5728	PTEN	HP:0001102	Angioid streaks of the fundus	-	OMIM:158350
5728	PTEN	HP:0032203	Lymphoid nodular hyperplasia	HP:0040284	ORPHA:210548
5728	PTEN	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:79076
5728	PTEN	HP:0001270	Motor delay	HP:0040282	ORPHA:210548
5728	PTEN	HP:0001270	Motor delay	HP:0040283	ORPHA:79076
5728	PTEN	HP:0002584	Intestinal bleeding	HP:0040283	ORPHA:79076
5728	PTEN	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:79076
5728	PTEN	HP:0001256	Intellectual disability, mild	-	OMIM:158350
5728	PTEN	HP:0001250	Seizure	HP:0040281	ORPHA:65285
5728	PTEN	HP:0001250	Seizure	HP:0040284	ORPHA:210548
5728	PTEN	HP:0001250	Seizure	HP:0040283	ORPHA:201
5728	PTEN	HP:0001250	Seizure	-	OMIM:158350
5728	PTEN	HP:0001250	Seizure	HP:0040283	ORPHA:109
5728	PTEN	HP:0001252	Hypotonia	1/3	OMIM:605309
5728	PTEN	HP:0001252	Hypotonia	HP:0040283	ORPHA:210548
5728	PTEN	HP:0001252	Hypotonia	HP:0040283	ORPHA:109
5728	PTEN	HP:0001251	Ataxia	HP:0040281	ORPHA:65285
5728	PTEN	HP:0001251	Ataxia	HP:0040282	ORPHA:201
5728	PTEN	HP:0001249	Intellectual disability	-	OMIM:605309
5728	PTEN	HP:0001249	Intellectual disability	HP:0040282	ORPHA:210548
5728	PTEN	HP:0001249	Intellectual disability	HP:0040282	ORPHA:201
5728	PTEN	HP:0001249	Intellectual disability	HP:0040282	ORPHA:79076
5728	PTEN	HP:0001249	Intellectual disability	-	OMIM:158350
5728	PTEN	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2969
5728	PTEN	HP:0001249	Intellectual disability	HP:0040283	ORPHA:109
5728	PTEN	HP:0002597	Abnormality of the vasculature	-	OMIM:158350
5728	PTEN	HP:0001263	Global developmental delay	2/3	OMIM:605309
5728	PTEN	HP:0001263	Global developmental delay	HP:0040282	ORPHA:201
5728	PTEN	HP:0001263	Global developmental delay	-	OMIM:158350
5728	PTEN	HP:0002576	Intussusception	HP:0040283	OMIM:174900
5728	PTEN	HP:0002576	Intussusception	HP:0040283	ORPHA:79076
5728	PTEN	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
5728	PTEN	HP:0002573	Hematochezia	HP:0040282	ORPHA:79076
5728	PTEN	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:109
5728	PTEN	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:2969
5728	PTEN	HP:0007392	Excessive wrinkled skin	HP:0040281	ORPHA:137608
5728	PTEN	HP:0008675	Enlarged polycystic ovaries	HP:0040283	ORPHA:201
5728	PTEN	HP:0001217	Clubbing	HP:0040283	OMIM:174900
5728	PTEN	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:201
5728	PTEN	HP:0002516	Increased intracranial pressure	HP:0040281	ORPHA:65285
5728	PTEN	HP:0003829	Typified by incomplete penetrance	-	OMIM:607174
5728	PTEN	HP:0033681	Oligodendroglioma	1/1	OMIM:613028
5728	PTEN	HP:0000098	Tall stature	HP:0040283	ORPHA:109
5728	PTEN	HP:0012062	Bone cyst	HP:0040283	ORPHA:201
5728	PTEN	HP:0001397	Hepatic steatosis	HP:0040284	ORPHA:210548
5728	PTEN	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:201
5728	PTEN	HP:0012032	Lipoma	HP:0040282	ORPHA:201
5728	PTEN	HP:0012032	Lipoma	HP:0040281	ORPHA:109
5728	PTEN	HP:0000036	Abnormal penis morphology	HP:0040282	ORPHA:201
5728	PTEN	HP:0001382	Joint hypermobility	1/3	OMIM:605309
5728	PTEN	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:109
5728	PTEN	HP:0025318	Ovarian carcinoma	-	OMIM:158350
5728	PTEN	HP:0000034	Hydrocele testis	1/3	OMIM:605309
5728	PTEN	HP:0000034	Hydrocele testis	-	OMIM:158350
5728	PTEN	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:109
5728	PTEN	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:201
5728	PTEN	HP:0012081	Enlarged cerebellum	HP:0040281	ORPHA:65285
5728	PTEN	HP:0002664	Neoplasm	HP:0040282	ORPHA:201
5728	PTEN	HP:0002664	Neoplasm	HP:0040283	ORPHA:109
5728	PTEN	HP:0001324	Muscle weakness	HP:0040283	ORPHA:109
5728	PTEN	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
5728	PTEN	HP:0001334	Communicating hydrocephalus	HP:0040282	ORPHA:2969
5728	PTEN	HP:0002665	Lymphoma	HP:0040283	ORPHA:109
5728	PTEN	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
5728	PTEN	HP:0000006	Autosomal dominant inheritance	-	OMIM:176807
5728	PTEN	HP:0000006	Autosomal dominant inheritance	-	OMIM:607174
5728	PTEN	HP:0000006	Autosomal dominant inheritance	-	OMIM:613028
5728	PTEN	HP:0000006	Autosomal dominant inheritance	-	OMIM:605309
5728	PTEN	HP:0000006	Autosomal dominant inheritance	-	OMIM:158350
5728	PTEN	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:2969
5728	PTEN	HP:0002650	Scoliosis	HP:0040282	ORPHA:109
5728	PTEN	HP:0002650	Scoliosis	HP:0040283	ORPHA:201
5728	PTEN	HP:0002650	Scoliosis	-	OMIM:158350
5728	PTEN	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:201
5728	PTEN	HP:0000189	Narrow palate	HP:0040283	ORPHA:109
5728	PTEN	HP:0000160	Narrow mouth	HP:0040283	ORPHA:79076
5728	PTEN	HP:0000160	Narrow mouth	-	OMIM:158350
5728	PTEN	HP:0000158	Macroglossia	HP:0040282	ORPHA:201
5728	PTEN	HP:0000158	Macroglossia	HP:0040281	ORPHA:65285
5728	PTEN	HP:0012125	Prostate cancer	HP:0040283	ORPHA:145
5728	PTEN	HP:0012125	Prostate cancer	-	OMIM:176807
5728	PTEN	HP:0000138	Ovarian cyst	-	OMIM:158350
5728	PTEN	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:109
5728	PTEN	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:201
5728	PTEN	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:137608
5728	PTEN	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:201
5728	PTEN	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:2969
5728	PTEN	HP:0002705	High, narrow palate	HP:0040283	ORPHA:79076
5728	PTEN	HP:0500009	Dysplastic gangliocytoma of the cerebellum	-	OMIM:158350
5728	PTEN	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:201
5728	PTEN	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:137608
5728	PTEN	HP:0001442	Typified by somatic mosaicism	-	OMIM:176807
5728	PTEN	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:109
5728	PTEN	HP:0002719	Recurrent infections	HP:0040284	OMIM:605309
5728	PTEN	HP:0002719	Recurrent infections	HP:0040284	OMIM:158350
5728	PTEN	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:65285
5728	PTEN	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
5728	PTEN	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:79076
5728	PTEN	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
5728	PTEN	HP:0002027	Abdominal pain	HP:0040282	ORPHA:79076
5728	PTEN	HP:0002003	Large forehead	HP:0040282	ORPHA:79076
5728	PTEN	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
5728	PTEN	HP:0002014	Diarrhea	HP:0040281	ORPHA:79076
5728	PTEN	HP:0002007	Frontal bossing	-	OMIM:605309
5728	PTEN	HP:0002007	Frontal bossing	HP:0040284	ORPHA:210548
5728	PTEN	HP:0002007	Frontal bossing	HP:0040283	ORPHA:109
5728	PTEN	HP:0002007	Frontal bossing	HP:0040283	ORPHA:79076
5728	PTEN	HP:0011800	Midface retrusion	1/3	OMIM:605309
5728	PTEN	HP:0011800	Midface retrusion	HP:0040284	ORPHA:210548
5728	PTEN	HP:0002080	Intention tremor	-	OMIM:158350
5728	PTEN	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:201
5728	PTEN	HP:0100560	Upper limb asymmetry	HP:0040281	ORPHA:137608
5728	PTEN	HP:0100559	Lower limb asymmetry	HP:0040281	ORPHA:2969
5728	PTEN	HP:0100559	Lower limb asymmetry	HP:0040281	ORPHA:137608
5728	PTEN	HP:0100579	Mucosal telangiectasiae	HP:0040282	ORPHA:201
5728	PTEN	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:65285
5728	PTEN	HP:0010609	Skin tags	-	OMIM:158350
5728	PTEN	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:109
5728	PTEN	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:109
5728	PTEN	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:109
5728	PTEN	HP:0010566	Hamartoma	HP:0040282	ORPHA:137608
5728	PTEN	HP:0010516	Thymus hyperplasia	HP:0040283	ORPHA:2969
5728	PTEN	HP:0003593	Infantile onset	3/3	OMIM:605309
5728	PTEN	HP:0002243	Protein-losing enteropathy	HP:0040282	ORPHA:79076
5728	PTEN	HP:0002240	Hepatomegaly	HP:0040284	OMIM:605309
5728	PTEN	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:79076
5728	PTEN	HP:0002253	Colonic diverticula	-	OMIM:158350
5728	PTEN	HP:0002250	Abnormal large intestine morphology	HP:0040281	ORPHA:109
5728	PTEN	HP:0003581	Adult onset	-	OMIM:158350
5728	PTEN	HP:0003581	Adult onset	-	OMIM:607174
5728	PTEN	HP:0002249	Melena	HP:0040282	ORPHA:79076
5728	PTEN	HP:0002208	Coarse hair	1/3	OMIM:605309
5728	PTEN	HP:0100764	Lymphangioma	HP:0040281	ORPHA:137608
5728	PTEN	HP:0100780	Conjunctival hamartoma	HP:0040281	ORPHA:201
5728	PTEN	HP:0100777	Exostoses	HP:0040282	ORPHA:2969
5728	PTEN	HP:0100774	Hyperostosis	HP:0040281	ORPHA:2969
5728	PTEN	HP:0009720	Adenoma sebaceum	HP:0040282	ORPHA:201
5728	PTEN	HP:0009721	Shagreen patch	HP:0040282	ORPHA:2969
5728	PTEN	HP:0100730	Bronchogenic cyst	HP:0040283	ORPHA:2969
5728	PTEN	HP:0100761	Visceral angiomatosis	HP:0040281	ORPHA:109
5728	PTEN	HP:0100761	Visceral angiomatosis	HP:0040281	ORPHA:137608
5728	PTEN	HP:0100759	Clubbing of fingers	HP:0040283	ORPHA:79076
5728	PTEN	HP:0007018	Attention deficit hyperactivity disorder	HP:0040284	ORPHA:210548
5728	PTEN	HP:0010619	Fibroadenoma of the breast	-	OMIM:158350
5728	PTEN	HP:0010619	Fibroadenoma of the breast	HP:0040282	ORPHA:65285
5728	PTEN	HP:0010614	Fibroma	HP:0040282	ORPHA:201
5728	PTEN	HP:0001054	Numerous nevi	HP:0040283	ORPHA:210548
5728	PTEN	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:201
5728	PTEN	HP:0001048	Cavernous hemangioma	HP:0040282	ORPHA:201
5728	PTEN	HP:0001031	Subcutaneous lipoma	-	OMIM:158350
5728	PTEN	HP:0001031	Subcutaneous lipoma	HP:0040281	ORPHA:2969
5728	PTEN	HP:0001031	Subcutaneous lipoma	HP:0040284	ORPHA:79076
5728	PTEN	HP:0001028	Hemangioma	HP:0040281	ORPHA:2969
5728	PTEN	HP:0001028	Hemangioma	HP:0040282	ORPHA:79076
5728	PTEN	HP:0001012	Multiple lipomas	HP:0040283	ORPHA:210548
5728	PTEN	HP:0001009	Telangiectasia	HP:0040283	ORPHA:109
5728	PTEN	HP:0001004	Lymphedema	HP:0040283	ORPHA:109
5728	PTEN	HP:0002315	Headache	HP:0040281	ORPHA:65285
5728	PTEN	HP:0200016	Acrokeratosis	-	OMIM:158350
5728	PTEN	HP:0200016	Acrokeratosis	HP:0040282	ORPHA:65285
5728	PTEN	HP:0100646	Thyroiditis	-	OMIM:158350
5728	PTEN	HP:0007206	Hemimegalencephaly	-	OMIM:158350
5728	PTEN	HP:0200034	Papule	HP:0040281	ORPHA:201
5728	PTEN	HP:0200034	Papule	HP:0040281	ORPHA:65285
5728	PTEN	HP:0200034	Papule	HP:0040281	ORPHA:137608
5728	PTEN	HP:0010816	Epidermal nevus	HP:0040281	ORPHA:2969
5728	PTEN	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:210548
5728	PTEN	HP:0200008	Intestinal polyposis	HP:0040281	ORPHA:109
5728	PTEN	HP:0010807	Open bite	HP:0040281	ORPHA:2969
5728	PTEN	HP:0200063	Colorectal polyposis	HP:0040281	ORPHA:201
5728	PTEN	HP:0100615	Ovarian neoplasm	HP:0040281	ORPHA:145
5728	PTEN	HP:0100615	Ovarian neoplasm	HP:0040282	ORPHA:65285
5728	PTEN	HP:0100615	Ovarian neoplasm	HP:0040283	ORPHA:137608
5728	PTEN	HP:0100641	Neoplasm of the adrenal cortex	HP:0040283	ORPHA:109
5728	PTEN	HP:0010797	Hemangioblastoma	HP:0040283	ORPHA:79076
5728	PTEN	HP:0010784	Uterine neoplasm	HP:0040283	ORPHA:109
5728	PTEN	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:109
5728	PTEN	HP:0005505	Refractory anemia	HP:0040282	ORPHA:79076
5728	PTEN	HP:0006824	Cranial nerve paralysis	HP:0040281	ORPHA:65285
5728	PTEN	HP:0005595	Generalized hyperkeratosis	HP:0040281	ORPHA:201
5728	PTEN	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:201
5728	PTEN	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:109
5728	PTEN	HP:0000615	Abnormal pupil morphology	HP:0040281	ORPHA:2969
5728	PTEN	HP:0001933	Subcutaneous hemorrhage	HP:0040282	ORPHA:109
5728	PTEN	HP:0001903	Anemia	HP:0040282	OMIM:174900
5728	PTEN	HP:0001903	Anemia	HP:0040281	ORPHA:79076
5728	PTEN	HP:0009023	Abdominal wall muscle weakness	HP:0040283	ORPHA:109
5728	PTEN	HP:0011304	Broad thumb	HP:0040283	ORPHA:79076
5728	PTEN	HP:0011304	Broad thumb	HP:0040283	ORPHA:109
5728	PTEN	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:79076
5728	PTEN	HP:0004322	Short stature	HP:0040283	ORPHA:201
5728	PTEN	HP:0004322	Short stature	HP:0040283	ORPHA:79076
5728	PTEN	HP:0004322	Short stature	HP:0040281	ORPHA:109
5728	PTEN	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:145
5728	PTEN	HP:0003002	Breast carcinoma	HP:0040281	ORPHA:201
5728	PTEN	HP:0003002	Breast carcinoma	-	OMIM:158350
5728	PTEN	HP:0003003	Colon cancer	20%	OMIM:174900
5728	PTEN	HP:0003003	Colon cancer	5/12	OMIM:608456
5728	PTEN	HP:0004326	Cachexia	HP:0040283	ORPHA:109
5728	PTEN	HP:0004326	Cachexia	HP:0040282	ORPHA:79076
5728	PTEN	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040284	OMIM:605309
5728	PTEN	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040284	OMIM:158350
5728	PTEN	HP:0003073	Hypoalbuminemia	-	OMIM:174900
5728	PTEN	HP:0003073	Hypoalbuminemia	HP:0040282	ORPHA:79076
5728	PTEN	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
5728	PTEN	HP:0004390	Hamartomatous polyposis	HP:0040282	ORPHA:201
5728	PTEN	HP:0004390	Hamartomatous polyposis	-	OMIM:158350
5728	PTEN	HP:0004390	Hamartomatous polyposis	HP:0040282	ORPHA:79076
5728	PTEN	HP:0004390	Hamartomatous polyposis	HP:0040281	ORPHA:109
5728	PTEN	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:137608
5728	PTEN	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:137608
5728	PTEN	HP:0100013	Neoplasm of the breast	HP:0040281	ORPHA:109
5728	PTEN	HP:0100013	Neoplasm of the breast	HP:0040283	ORPHA:137608
5728	PTEN	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:201
5728	PTEN	HP:0000771	Gynecomastia	HP:0040283	ORPHA:201
5728	PTEN	HP:0000771	Gynecomastia	-	OMIM:158350
5728	PTEN	HP:0012733	Macule	HP:0040281	ORPHA:201
5728	PTEN	HP:0012740	Papilloma	HP:0040281	ORPHA:201
5728	PTEN	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:109
5728	PTEN	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:201
5728	PTEN	HP:0000767	Pectus excavatum	-	OMIM:158350
5728	PTEN	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:201
5728	PTEN	HP:0100031	Neoplasm of the thyroid gland	HP:0040282	ORPHA:65285
5728	PTEN	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:137608
5728	PTEN	HP:0100026	Arteriovenous malformation	HP:0040281	ORPHA:109
5728	PTEN	HP:0100026	Arteriovenous malformation	HP:0040281	ORPHA:137608
5728	PTEN	HP:0000736	Short attention span	1/3	OMIM:605309
5728	PTEN	HP:0000750	Delayed speech and language development	2/3	OMIM:605309
5728	PTEN	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:210548
5728	PTEN	HP:0000717	Autism	3/3	OMIM:605309
5728	PTEN	HP:0000717	Autism	HP:0040283	ORPHA:201
5728	PTEN	HP:0000729	Autistic behavior	HP:0040281	ORPHA:210548
5728	PTEN	HP:0010174	Broad phalanx of the toes	HP:0040283	ORPHA:79076
5728	PTEN	HP:0030731	Carcinoma	-	OMIM:158350
5728	PTEN	HP:0004422	Biparietal narrowing	-	OMIM:605309
5728	PTEN	HP:0003198	Myopathy	HP:0040283	ORPHA:109
5728	PTEN	HP:0003196	Short nose	-	OMIM:605309
5728	PTEN	HP:0003196	Short nose	HP:0040284	ORPHA:210548
5728	PTEN	HP:0003196	Short nose	HP:0040283	ORPHA:109
5728	PTEN	HP:0004481	Progressive macrocephaly	-	OMIM:158350
5728	PTEN	HP:0012871	Varicocele	-	OMIM:158350
5728	PTEN	HP:0000872	Hashimoto thyroiditis	HP:0040283	ORPHA:109
5728	PTEN	HP:0012844	Trichilemmoma	HP:0040282	ORPHA:65285
5728	PTEN	HP:0000854	Thyroid adenoma	-	OMIM:158350
5728	PTEN	HP:0000853	Goiter	-	OMIM:158350
5728	PTEN	HP:0000853	Goiter	HP:0040281	ORPHA:201
5728	PTEN	HP:0000836	Hyperthyroidism	-	OMIM:158350
5728	PTEN	HP:0000828	Abnormality of the parathyroid gland	HP:0040282	ORPHA:2969
5728	PTEN	HP:0000821	Hypothyroidism	-	OMIM:158350
5728	PTEN	HP:0000820	Abnormality of the thyroid gland	HP:0040282	ORPHA:201
5728	PTEN	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:109
5728	PTEN	HP:0000995	Melanocytic nevus	HP:0040282	ORPHA:201
5728	PTEN	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:158350
5728	PTEN	HP:0000973	Cutis laxa	1/3	OMIM:605309
5728	PTEN	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:201
5728	PTEN	HP:0000957	Cafe-au-lait spot	HP:0040283	ORPHA:210548
5728	PTEN	HP:0000965	Cutis marmorata	HP:0040283	ORPHA:109
5728	PTEN	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:201
5728	PTEN	HP:0000286	Epicanthus	1/3	OMIM:605309
5728	PTEN	HP:0000256	Macrocephaly	HP:0040281	ORPHA:210548
5728	PTEN	HP:0000256	Macrocephaly	HP:0040282	ORPHA:2969
5728	PTEN	HP:0000256	Macrocephaly	HP:0040281	ORPHA:109
5728	PTEN	HP:0000256	Macrocephaly	HP:0040281	ORPHA:65285
5728	PTEN	HP:0000256	Macrocephaly	HP:0040282	ORPHA:201
5728	PTEN	HP:0000256	Macrocephaly	HP:0040283	ORPHA:137608
5728	PTEN	HP:0000256	Macrocephaly	HP:0040282	ORPHA:79076
5728	PTEN	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:2969
5728	PTEN	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:109
5728	PTEN	HP:0002816	Genu recurvatum	HP:0040281	ORPHA:2969
5728	PTEN	HP:0002808	Kyphosis	HP:0040283	ORPHA:201
5728	PTEN	HP:0002808	Kyphosis	-	OMIM:158350
5728	PTEN	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:2969
5728	PTEN	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:65285
5728	PTEN	HP:0000221	Furrowed tongue	HP:0040282	ORPHA:201
5728	PTEN	HP:0000221	Furrowed tongue	-	OMIM:158350
5728	PTEN	HP:0001548	Overgrowth	1/3	OMIM:605309
5728	PTEN	HP:0000218	High palate	1/3	OMIM:605309
5728	PTEN	HP:0000218	High palate	HP:0040283	ORPHA:201
5728	PTEN	HP:0000218	High palate	-	OMIM:158350
5728	PTEN	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:145
5728	PTEN	HP:0002890	Thyroid carcinoma	HP:0040284	ORPHA:210548
5728	PTEN	HP:0002890	Thyroid carcinoma	HP:0040283	ORPHA:109
5728	PTEN	HP:0002861	Melanoma	HP:0040283	ORPHA:145
5728	PTEN	HP:0002861	Melanoma	HP:0040283	ORPHA:201
5728	PTEN	HP:0002858	Meningioma	HP:0040283	ORPHA:109
5728	PTEN	HP:0002858	Meningioma	HP:0040282	ORPHA:201
5728	PTEN	HP:0002858	Meningioma	-	OMIM:158350
5728	PTEN	HP:0002858	Meningioma	1/1	OMIM:613028
5728	PTEN	HP:0002858	Meningioma	-	OMIM:607174
5728	PTEN	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
5728	PTEN	HP:0001508	Failure to thrive	HP:0040283	ORPHA:201
5728	PTEN	HP:0001520	Large for gestational age	1/3	OMIM:605309
5728	PTEN	HP:0001513	Obesity	-	OMIM:605309
5728	PTEN	HP:0011098	Speech apraxia	1/3	OMIM:605309
5728	PTEN	HP:0011027	Abnormal fallopian tube morphology	HP:0040281	ORPHA:145
5728	PTEN	HP:0005227	Adenomatous colonic polyposis	HP:0040280	ORPHA:79076
5728	PTEN	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
5728	PTEN	HP:0002900	Hypokalemia	-	OMIM:174900
5728	PTEN	HP:0000365	Hearing impairment	HP:0040283	ORPHA:201
5728	PTEN	HP:0000365	Hearing impairment	-	OMIM:158350
5728	PTEN	HP:0000369	Low-set ears	HP:0040283	ORPHA:79076
5728	PTEN	HP:0000343	Long philtrum	-	OMIM:605309
5728	PTEN	HP:0000343	Long philtrum	HP:0040283	ORPHA:109
5728	PTEN	HP:0031447	Penile freckling	HP:0040283	ORPHA:210548
5728	PTEN	HP:0031447	Penile freckling	2/3	OMIM:605309
5728	PTEN	HP:0000337	Broad forehead	-	OMIM:605309
5728	PTEN	HP:0001681	Angina pectoris	HP:0040283	ORPHA:109
5728	PTEN	HP:0000347	Micrognathia	HP:0040283	ORPHA:109
5728	PTEN	HP:0000347	Micrognathia	-	OMIM:158350
5728	PTEN	HP:0000316	Hypertelorism	HP:0040284	ORPHA:210548
5728	PTEN	HP:0000316	Hypertelorism	HP:0040282	ORPHA:79076
5728	PTEN	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:79076
5728	PTEN	HP:0000331	Short chin	HP:0040283	ORPHA:79076
5728	PTEN	HP:0000327	Hypoplasia of the maxilla	-	OMIM:158350
5728	PTEN	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:79076
5728	PTEN	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:137608
5728	PTEN	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:79076
5728	PTEN	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:2969
5728	PTEN	HP:0006608	Midclavicular hypoplasia	HP:0040283	ORPHA:79076
5728	PTEN	HP:0005374	Cellular immunodeficiency	HP:0040283	ORPHA:201
5728	PTEN	HP:0005306	Capillary hemangioma	HP:0040281	ORPHA:109
5728	PTEN	HP:0000403	Recurrent otitis media	1/3	OMIM:605309
5728	PTEN	HP:0000400	Macrotia	HP:0040283	ORPHA:109
5728	PTEN	HP:0005293	Venous insufficiency	HP:0040282	ORPHA:2969
5728	PTEN	HP:0005293	Venous insufficiency	HP:0040281	ORPHA:137608
5728	PTEN	HP:0005280	Depressed nasal bridge	1/3	OMIM:605309
5728	PTEN	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:210548
5728	PTEN	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:79076
5728	PTEN	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:2969
5728	PTEN	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:79076
5728	PTEN	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2969
5728	PTEN	HP:0000463	Anteverted nares	HP:0040283	ORPHA:109
5728	PTEN	HP:0030257	Freckled genitalia	HP:0040283	ORPHA:79076
5728	PTEN	HP:0000445	Wide nose	HP:0040283	ORPHA:109
5728	PTEN	HP:0025710	Late young adult onset	1/1	OMIM:613028
5728	PTEN	HP:0001744	Splenomegaly	HP:0040284	OMIM:605309
5728	PTEN	HP:0001744	Splenomegaly	HP:0040283	ORPHA:2969
5728	PTEN	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
5728	PTEN	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:158350
5728	PTEN	HP:0006731	Follicular thyroid carcinoma	HP:0040283	ORPHA:201
5728	PTEN	HP:0030406	Primary peritoneal carcinoma	HP:0040281	ORPHA:145
5728	PTEN	HP:0005490	Postnatal macrocephaly	3/3	OMIM:605309
5728	PTEN	HP:0006781	Hurthle cell thyroid adenoma	HP:0040284	ORPHA:210548
5728	PTEN	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
5728	PTEN	HP:0000518	Cataract	HP:0040282	ORPHA:2969
5728	PTEN	HP:0000518	Cataract	HP:0040283	ORPHA:201
5728	PTEN	HP:0000518	Cataract	-	OMIM:158350
5728	PTEN	HP:0001829	Foot polydactyly	HP:0040284	ORPHA:210548
5728	PTEN	HP:0000587	Abnormal optic nerve morphology	HP:0040283	ORPHA:109
5728	PTEN	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:79076
5728	PTEN	HP:0011220	Prominent forehead	2/3	OMIM:605309
5728	PTEN	HP:0001888	Decreased total lymphocyte count	HP:0040284	OMIM:605309
5728	PTEN	HP:0001888	Decreased total lymphocyte count	HP:0040284	OMIM:158350
5728	PTEN	HP:0000541	Retinal detachment	HP:0040282	ORPHA:2969
5728	PTEN	HP:0001883	Talipes	HP:0040283	ORPHA:137608
5728	PTEN	HP:0012520	Dilation of Virchow-Robin spaces	1/3	OMIM:605309
5728	PTEN	HP:0000545	Myopia	HP:0040281	ORPHA:2969
5728	PTEN	HP:0000545	Myopia	HP:0040283	ORPHA:201
5728	PTEN	HP:0000545	Myopia	-	OMIM:158350
5732	PTGER2	HP:0012042	Aspirin-induced asthma	-	OMIM:208550
5732	PTGER2	HP:0000007	Autosomal recessive inheritance	-	OMIM:208550
5732	PTGER2	HP:0002099	Asthma	-	OMIM:208550
5732	PTGER2	HP:0100582	Nasal polyposis	-	OMIM:208550
5732	PTGER2	HP:4000007	Bronchoconstriction	-	OMIM:208550
5740	PTGIS	HP:0001426	Non-Mendelian inheritance	-	OMIM:145500
5740	PTGIS	HP:0004972	Elevated mean arterial pressure	-	OMIM:145500
5740	PTGIS	HP:0004421	Elevated systolic blood pressure	-	OMIM:145500
5740	PTGIS	HP:0005117	Elevated diastolic blood pressure	-	OMIM:145500
5741	PTH	HP:0001281	Tetany	1/2	OMIM:146200
5741	PTH	HP:0002514	Cerebral calcification	-	OMIM:146200
5741	PTH	HP:0025303	Episodic	1/2	OMIM:146200
5741	PTH	HP:0000007	Autosomal recessive inheritance	-	OMIM:146200
5741	PTH	HP:0000006	Autosomal dominant inheritance	-	OMIM:146200
5741	PTH	HP:0000121	Nephrocalcinosis	1/2	OMIM:146200
5741	PTH	HP:0002199	Hypocalcemic seizures	2/2	OMIM:146200
5741	PTH	HP:0003593	Infantile onset	2/2	OMIM:146200
5741	PTH	HP:0031817	Decreased circulating parathyroid hormone level	2/2	OMIM:146200
5741	PTH	HP:0031990	Chvostek sign	1/2	OMIM:146200
5741	PTH	HP:0000737	Irritability	1/2	OMIM:146200
5741	PTH	HP:0000829	Hypoparathyroidism	2/2	OMIM:146200
5741	PTH	HP:0002905	Hyperphosphatemia	2/2	OMIM:146200
5741	PTH	HP:0002901	Hypocalcemia	2/2	OMIM:146200
5741	PTH	HP:0000518	Cataract	-	OMIM:146200
5744	PTHLH	HP:0001156	Brachydactyly	-	OMIM:613382
5744	PTHLH	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:93387
5744	PTHLH	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5744	PTHLH	HP:0001293	Cranial nerve compression	-	OMIM:131300
5744	PTHLH	HP:0001252	Hypotonia	2/7	OMIM:615777
5744	PTHLH	HP:0001249	Intellectual disability	5/7	OMIM:615777
5744	PTHLH	HP:0001263	Global developmental delay	-	OMIM:615777
5744	PTHLH	HP:0002515	Waddling gait	54/102	OMIM:131300
5744	PTHLH	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:93387
5744	PTHLH	HP:0001382	Joint hypermobility	-	OMIM:615777
5744	PTHLH	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5744	PTHLH	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5744	PTHLH	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5744	PTHLH	HP:0001324	Muscle weakness	40/96	OMIM:131300
5744	PTHLH	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5744	PTHLH	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5744	PTHLH	HP:0000006	Autosomal dominant inheritance	-	OMIM:613382
5744	PTHLH	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5744	PTHLH	HP:0002650	Scoliosis	12/14	OMIM:131300
5744	PTHLH	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5744	PTHLH	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5744	PTHLH	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5744	PTHLH	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5744	PTHLH	HP:0000175	Cleft palate	2/7	OMIM:615777
5744	PTHLH	HP:0002007	Frontal bossing	HP:0040283	ORPHA:93387
5744	PTHLH	HP:0100560	Upper limb asymmetry	HP:0040283	ORPHA:93387
5744	PTHLH	HP:0003388	Easy fatigability	36/76	OMIM:131300
5744	PTHLH	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5744	PTHLH	HP:0003510	Severe short stature	7/7	OMIM:615777
5744	PTHLH	HP:0002315	Headache	-	OMIM:131300
5744	PTHLH	HP:0004976	Knee dislocation	6/7	OMIM:615777
5744	PTHLH	HP:0009803	Short phalanx of finger	-	OMIM:615777
5744	PTHLH	HP:0010743	Short metatarsal	-	OMIM:613382
5744	PTHLH	HP:0010743	Short metatarsal	HP:0040283	ORPHA:93387
5744	PTHLH	HP:0009763	Limb pain	63/92	OMIM:131300
5744	PTHLH	HP:0003621	Juvenile onset	-	OMIM:131300
5744	PTHLH	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5744	PTHLH	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	HP:0040283	ORPHA:93387
5744	PTHLH	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5744	PTHLH	HP:6001056	Out-toeing	-	OMIM:131300
5744	PTHLH	HP:0000651	Diplopia	-	OMIM:131300
5744	PTHLH	HP:0001956	Truncal obesity	2/7	OMIM:615777
5744	PTHLH	HP:0001903	Anemia	HP:0040283	OMIM:131300
5744	PTHLH	HP:0010049	Short metacarpal	HP:0040281	ORPHA:93387
5744	PTHLH	HP:0010049	Short metacarpal	-	OMIM:615777
5744	PTHLH	HP:0010049	Short metacarpal	-	OMIM:613382
5744	PTHLH	HP:0000684	Delayed eruption of teeth	HP:0040283	OMIM:613382
5744	PTHLH	HP:0000678	Dental crowding	-	OMIM:615777
5744	PTHLH	HP:0000677	Oligodontia	HP:0040283	OMIM:613382
5744	PTHLH	HP:0000670	Carious teeth	-	OMIM:131300
5744	PTHLH	HP:0011304	Broad thumb	2/7	OMIM:615777
5744	PTHLH	HP:0000668	Hypodontia	-	OMIM:615777
5744	PTHLH	HP:0000664	Synophrys	-	OMIM:615777
5744	PTHLH	HP:0004322	Short stature	HP:0040282	ORPHA:93387
5744	PTHLH	HP:0004322	Short stature	-	OMIM:613382
5744	PTHLH	HP:0004396	Poor appetite	-	OMIM:131300
5744	PTHLH	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5744	PTHLH	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5744	PTHLH	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5744	PTHLH	HP:0003026	Short long bone	7/7	OMIM:615777
5744	PTHLH	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5744	PTHLH	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5744	PTHLH	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5744	PTHLH	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5744	PTHLH	HP:0000750	Delayed speech and language development	-	OMIM:615777
5744	PTHLH	HP:0011461	Fetal onset	7/7	OMIM:615777
5744	PTHLH	HP:0000774	Narrow chest	2/7	OMIM:615777
5744	PTHLH	HP:0000926	Platyspondyly	1/7	OMIM:615777
5744	PTHLH	HP:0003180	Flat acetabular roof	-	OMIM:615777
5744	PTHLH	HP:0004482	Relative macrocephaly	-	OMIM:615777
5744	PTHLH	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5744	PTHLH	HP:0000823	Delayed puberty	-	OMIM:131300
5744	PTHLH	HP:0000894	Short clavicles	-	OMIM:615777
5744	PTHLH	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5744	PTHLH	HP:0005863	Type E brachydactyly	HP:0040281	ORPHA:93387
5744	PTHLH	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5744	PTHLH	HP:0000286	Epicanthus	1/7	OMIM:615777
5744	PTHLH	HP:0000280	Coarse facial features	2/7	OMIM:615777
5744	PTHLH	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93387
5744	PTHLH	HP:0002827	Hip dislocation	3/7	OMIM:615777
5744	PTHLH	HP:0000252	Microcephaly	-	OMIM:615777
5744	PTHLH	HP:0002857	Genu valgum	-	OMIM:131300
5744	PTHLH	HP:0001533	Slender build	-	OMIM:131300
5744	PTHLH	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5744	PTHLH	HP:0007807	Optic nerve compression	-	OMIM:131300
5744	PTHLH	HP:0012368	Flat face	7/7	OMIM:615777
5744	PTHLH	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5744	PTHLH	HP:0000365	Hearing impairment	10/67	OMIM:131300
5744	PTHLH	HP:0000343	Long philtrum	1/7	OMIM:615777
5744	PTHLH	HP:0011001	Increased bone mineral density	-	OMIM:131300
5744	PTHLH	HP:0000311	Round face	2/7	OMIM:615777
5744	PTHLH	HP:0002970	Genu varum	-	OMIM:615777
5744	PTHLH	HP:0000303	Mandibular prognathia	-	OMIM:131300
5744	PTHLH	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5744	PTHLH	HP:0000470	Short neck	1/7	OMIM:615777
5744	PTHLH	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5744	PTHLH	HP:0001763	Pes planus	1/7	OMIM:615777
5744	PTHLH	HP:0001840	Metatarsus adductus	-	OMIM:615777
5744	PTHLH	HP:0000520	Proptosis	2/4	OMIM:131300
5744	PTHLH	HP:0000520	Proptosis	7/7	OMIM:615777
5744	PTHLH	HP:0000592	Blue sclerae	2/7	OMIM:615777
5744	PTHLH	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5744	PTHLH	HP:0012514	Lower limb pain	4/4	OMIM:131300
5745	PTH1R	HP:0001169	Broad palm	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5745	PTH1R	HP:0001293	Cranial nerve compression	-	OMIM:131300
5745	PTH1R	HP:0001270	Motor delay	1/1	OMIM:600002
5745	PTH1R	HP:0001252	Hypotonia	2/7	OMIM:615777
5745	PTH1R	HP:0001249	Intellectual disability	0/1	OMIM:600002
5745	PTH1R	HP:0001249	Intellectual disability	5/7	OMIM:615777
5745	PTH1R	HP:0001263	Global developmental delay	-	OMIM:615777
5745	PTH1R	HP:0008754	Laryngeal calcification	-	OMIM:215045
5745	PTH1R	HP:0001211	Abnormal fingertip morphology	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0001216	Delayed ossification of carpal bones	1/1	OMIM:600002
5745	PTH1R	HP:0002515	Waddling gait	54/102	OMIM:131300
5745	PTH1R	HP:0002515	Waddling gait	HP:0040282	ORPHA:33067
5745	PTH1R	HP:0002515	Waddling gait	-	OMIM:156400
5745	PTH1R	HP:0003826	Stillbirth	1/1	OMIM:215045
5745	PTH1R	HP:0008808	High iliac wing	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0008800	Limited hip movement	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0001387	Joint stiffness	HP:0040282	ORPHA:296
5745	PTH1R	HP:0001382	Joint hypermobility	-	OMIM:615777
5745	PTH1R	HP:0002684	Thickened calvaria	2/2	OMIM:600002
5745	PTH1R	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5745	PTH1R	HP:0002694	Sclerosis of skull base	HP:0040282	ORPHA:33067
5745	PTH1R	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5745	PTH1R	HP:0008873	Disproportionate short-limb short stature	HP:0040282	ORPHA:33067
5745	PTH1R	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:33067
5745	PTH1R	HP:0002663	Delayed epiphyseal ossification	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0002663	Delayed epiphyseal ossification	-	OMIM:600002
5745	PTH1R	HP:0002664	Neoplasm	HP:0040283	ORPHA:296
5745	PTH1R	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5745	PTH1R	HP:0002656	Epiphyseal dysplasia	HP:0040281	ORPHA:79106
5745	PTH1R	HP:0001324	Muscle weakness	40/96	OMIM:131300
5745	PTH1R	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5745	PTH1R	HP:0000007	Autosomal recessive inheritance	-	OMIM:215045
5745	PTH1R	HP:0000007	Autosomal recessive inheritance	-	OMIM:600002
5745	PTH1R	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5745	PTH1R	HP:0000006	Autosomal dominant inheritance	-	OMIM:156400
5745	PTH1R	HP:0000006	Autosomal dominant inheritance	-	OMIM:125350
5745	PTH1R	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5745	PTH1R	HP:0002652	Skeletal dysplasia	-	OMIM:600002
5745	PTH1R	HP:0002653	Bone pain	HP:0040282	ORPHA:296
5745	PTH1R	HP:0002650	Scoliosis	HP:0040283	ORPHA:296
5745	PTH1R	HP:0002650	Scoliosis	12/14	OMIM:131300
5745	PTH1R	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5745	PTH1R	HP:0002643	Neonatal respiratory distress	HP:0040283	ORPHA:33067
5745	PTH1R	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5745	PTH1R	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5745	PTH1R	HP:0008921	Neonatal short-limb short stature	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0008905	Rhizomelia	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0000179	Thick lower lip vermilion	1/1	OMIM:600002
5745	PTH1R	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5745	PTH1R	HP:0000175	Cleft palate	2/7	OMIM:615777
5745	PTH1R	HP:0002797	Osteolysis	HP:0040281	ORPHA:296
5745	PTH1R	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:296
5745	PTH1R	HP:0006352	Failure of eruption of permanent teeth	-	OMIM:125350
5745	PTH1R	HP:0006335	Persistence of primary teeth	1/1	OMIM:600002
5745	PTH1R	HP:0006335	Persistence of primary teeth	-	OMIM:125350
5745	PTH1R	HP:0006283	Multiple unerupted teeth	1/1	OMIM:600002
5745	PTH1R	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:33067
5745	PTH1R	HP:0000121	Nephrocalcinosis	-	OMIM:156400
5745	PTH1R	HP:0032524	Long thumb	1/1	OMIM:600002
5745	PTH1R	HP:0002763	Abnormal cartilage morphology	HP:0040281	ORPHA:296
5745	PTH1R	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:296
5745	PTH1R	HP:0002756	Pathologic fracture	-	OMIM:156400
5745	PTH1R	HP:0002753	Thin bony cortex	HP:0040282	ORPHA:33067
5745	PTH1R	HP:0002753	Thin bony cortex	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0002737	Thick skull base	-	OMIM:156400
5745	PTH1R	HP:0004676	Prominent supraorbital arches in adult	-	OMIM:156400
5745	PTH1R	HP:0011800	Midface retrusion	2/2	OMIM:600002
5745	PTH1R	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0100560	Upper limb asymmetry	HP:0040283	ORPHA:296
5745	PTH1R	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:296
5745	PTH1R	HP:0003388	Easy fatigability	36/76	OMIM:131300
5745	PTH1R	HP:0100512	Decreased circulating vitamin D concentration	1/1	OMIM:600002
5745	PTH1R	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5745	PTH1R	HP:0008103	Delayed tarsal ossification	2/2	OMIM:600002
5745	PTH1R	HP:0008108	Advanced tarsal ossification	-	OMIM:215045
5745	PTH1R	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0003468	Abnormal vertebral morphology	0/3	OMIM:215045
5745	PTH1R	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:33067
5745	PTH1R	HP:0002150	Hypercalciuria	-	OMIM:156400
5745	PTH1R	HP:0002148	Hypophosphatemia	HP:0040282	ORPHA:33067
5745	PTH1R	HP:0002148	Hypophosphatemia	-	OMIM:156400
5745	PTH1R	HP:0010537	Wide cranial sutures	HP:0040283	ORPHA:33067
5745	PTH1R	HP:0011849	Abnormal bone ossification	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0010584	Pseudoepiphyses	1/1	OMIM:600002
5745	PTH1R	HP:0200138	Bilateral choanal atresia/stenosis	HP:0040283	ORPHA:33067
5745	PTH1R	HP:0100764	Lymphangioma	HP:0040283	ORPHA:296
5745	PTH1R	HP:0100761	Visceral angiomatosis	HP:0040281	ORPHA:296
5745	PTH1R	HP:0100759	Clubbing of fingers	-	OMIM:156400
5745	PTH1R	HP:0003510	Severe short stature	7/7	OMIM:615777
5745	PTH1R	HP:0003510	Severe short stature	-	OMIM:156400
5745	PTH1R	HP:0001028	Hemangioma	HP:0040281	ORPHA:296
5745	PTH1R	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/1	OMIM:600002
5745	PTH1R	HP:0002315	Headache	-	OMIM:131300
5745	PTH1R	HP:0004976	Knee dislocation	6/7	OMIM:615777
5745	PTH1R	HP:0100671	Abnormal trabecular bone morphology	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0010808	Protruding tongue	HP:0040282	ORPHA:50945
5745	PTH1R	HP:0009803	Short phalanx of finger	-	OMIM:615777
5745	PTH1R	HP:0009803	Short phalanx of finger	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0200042	Skin ulcer	HP:0040283	ORPHA:296
5745	PTH1R	HP:0009763	Limb pain	63/92	OMIM:131300
5745	PTH1R	HP:0002308	Chiari malformation	1/1	OMIM:600002
5745	PTH1R	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:296
5745	PTH1R	HP:0003621	Juvenile onset	-	OMIM:131300
5745	PTH1R	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5745	PTH1R	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:156400
5745	PTH1R	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:296
5745	PTH1R	HP:0004279	Short palm	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5745	PTH1R	HP:0004233	Advanced ossification of carpal bones	-	OMIM:215045
5745	PTH1R	HP:6001056	Out-toeing	-	OMIM:131300
5745	PTH1R	HP:0000651	Diplopia	-	OMIM:131300
5745	PTH1R	HP:0001956	Truncal obesity	2/7	OMIM:615777
5745	PTH1R	HP:0001903	Anemia	HP:0040283	OMIM:131300
5745	PTH1R	HP:0010049	Short metacarpal	-	OMIM:615777
5745	PTH1R	HP:0010049	Short metacarpal	HP:0040282	ORPHA:50945
5745	PTH1R	HP:0000678	Dental crowding	-	OMIM:615777
5745	PTH1R	HP:0000677	Oligodontia	1/1	OMIM:600002
5745	PTH1R	HP:0000692	Tooth malposition	-	OMIM:156400
5745	PTH1R	HP:0000695	Natal tooth	HP:0040282	ORPHA:50945
5745	PTH1R	HP:0000670	Carious teeth	-	OMIM:131300
5745	PTH1R	HP:0011304	Broad thumb	2/7	OMIM:615777
5745	PTH1R	HP:0000668	Hypodontia	-	OMIM:615777
5745	PTH1R	HP:0000668	Hypodontia	-	OMIM:125350
5745	PTH1R	HP:0000664	Synophrys	-	OMIM:615777
5745	PTH1R	HP:0004325	Decreased body weight	1/1	OMIM:600002
5745	PTH1R	HP:0004322	Short stature	1/1	OMIM:600002
5745	PTH1R	HP:0004322	Short stature	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0005616	Accelerated skeletal maturation	-	OMIM:215045
5745	PTH1R	HP:0005616	Accelerated skeletal maturation	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0030674	Antenatal onset	2/2	OMIM:215045
5745	PTH1R	HP:0003071	Flattened epiphysis	1/1	OMIM:600002
5745	PTH1R	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:33067
5745	PTH1R	HP:0003072	Hypercalcemia	-	OMIM:156400
5745	PTH1R	HP:0003080	Hydroxyprolinuria	HP:0040282	ORPHA:33067
5745	PTH1R	HP:0003067	Madelung deformity	HP:0040283	ORPHA:296
5745	PTH1R	HP:0004396	Poor appetite	-	OMIM:131300
5745	PTH1R	HP:0003038	Fibular hypoplasia	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0003038	Fibular hypoplasia	-	OMIM:600002
5745	PTH1R	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5745	PTH1R	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5745	PTH1R	HP:0003015	Flared metaphysis	-	OMIM:215045
5745	PTH1R	HP:0003015	Flared metaphysis	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5745	PTH1R	HP:0003026	Short long bone	7/7	OMIM:615777
5745	PTH1R	HP:0003026	Short long bone	-	OMIM:156400
5745	PTH1R	HP:0003027	Mesomelia	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0003025	Metaphyseal irregularity	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5745	PTH1R	HP:0003021	Metaphyseal cupping	-	OMIM:156400
5745	PTH1R	HP:0003021	Metaphyseal cupping	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5745	PTH1R	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5745	PTH1R	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5745	PTH1R	HP:0000750	Delayed speech and language development	-	OMIM:615777
5745	PTH1R	HP:0000706	Eruption failure	1/1	OMIM:600002
5745	PTH1R	HP:0011461	Fetal onset	7/7	OMIM:615777
5745	PTH1R	HP:0000774	Narrow chest	2/2	OMIM:215045
5745	PTH1R	HP:0000774	Narrow chest	2/7	OMIM:615777
5745	PTH1R	HP:0000774	Narrow chest	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0000773	Short ribs	2/2	OMIM:215045
5745	PTH1R	HP:0000773	Short ribs	-	OMIM:156400
5745	PTH1R	HP:0000773	Short ribs	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0003109	Hyperphosphaturia	-	OMIM:156400
5745	PTH1R	HP:0005701	Multiple enchondromatosis	HP:0040281	ORPHA:296
5745	PTH1R	HP:0005716	Lethal skeletal dysplasia	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0003196	Short nose	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0000916	Broad clavicles	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0000926	Platyspondyly	1/7	OMIM:615777
5745	PTH1R	HP:0000926	Platyspondyly	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0003177	Squared iliac bones	-	OMIM:215045
5745	PTH1R	HP:0003170	Abnormal acetabulum morphology	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0003180	Flat acetabular roof	-	OMIM:615777
5745	PTH1R	HP:0003180	Flat acetabular roof	1/1	OMIM:600002
5745	PTH1R	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:600002
5745	PTH1R	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:33067
5745	PTH1R	HP:0003155	Elevated circulating alkaline phosphatase concentration	-	OMIM:156400
5745	PTH1R	HP:0004482	Relative macrocephaly	-	OMIM:615777
5745	PTH1R	HP:0003165	Elevated circulating parathyroid hormone level	-	ORPHA:33067
5745	PTH1R	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5745	PTH1R	HP:0005789	Generalized osteosclerosis	-	OMIM:215045
5745	PTH1R	HP:0000883	Thin ribs	HP:0040283	ORPHA:33067
5745	PTH1R	HP:0000885	Broad ribs	1/1	OMIM:600002
5745	PTH1R	HP:0000829	Hypoparathyroidism	-	OMIM:156400
5745	PTH1R	HP:0000823	Delayed puberty	-	OMIM:131300
5745	PTH1R	HP:0000894	Short clavicles	-	OMIM:615777
5745	PTH1R	HP:0005871	Metaphyseal chondrodysplasia	-	OMIM:156400
5745	PTH1R	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5745	PTH1R	HP:0034392	Joint contracture	HP:0040283	ORPHA:33067
5745	PTH1R	HP:0003275	Narrow pelvis bone	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0003275	Narrow pelvis bone	-	OMIM:600002
5745	PTH1R	HP:0003273	Hip contracture	-	OMIM:156400
5745	PTH1R	HP:0010306	Short thorax	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0010305	Absence of the sacrum	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5745	PTH1R	HP:0000938	Osteopenia	HP:0040282	ORPHA:33067
5745	PTH1R	HP:0000938	Osteopenia	-	OMIM:156400
5745	PTH1R	HP:0100240	Synostosis of joints	HP:0040282	ORPHA:50945
5745	PTH1R	HP:0100242	Sarcoma	HP:0040283	ORPHA:296
5745	PTH1R	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:296
5745	PTH1R	HP:0005819	Short middle phalanx of finger	1/1	OMIM:600002
5745	PTH1R	HP:0009371	Type A1 brachydactyly	1/1	OMIM:600002
5745	PTH1R	HP:0000286	Epicanthus	1/7	OMIM:615777
5745	PTH1R	HP:0000280	Coarse facial features	2/7	OMIM:615777
5745	PTH1R	HP:0000293	Full cheeks	HP:0040283	ORPHA:33067
5745	PTH1R	HP:0000272	Malar flattening	-	OMIM:215045
5745	PTH1R	HP:0000272	Malar flattening	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0000268	Dolichocephaly	2/2	OMIM:600002
5745	PTH1R	HP:0006429	Broad femoral neck	1/1	OMIM:600002
5745	PTH1R	HP:0006402	Distal shortening of limbs	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0002829	Arthralgia	HP:0040281	ORPHA:79106
5745	PTH1R	HP:0002827	Hip dislocation	3/7	OMIM:615777
5745	PTH1R	HP:0030084	Clinodactyly	1/1	OMIM:600002
5745	PTH1R	HP:0006380	Knee flexion contracture	-	OMIM:156400
5745	PTH1R	HP:0006376	Limited elbow flexion	HP:0040281	ORPHA:79106
5745	PTH1R	HP:0001571	Multiple impacted teeth	1/1	OMIM:600002
5745	PTH1R	HP:0000252	Microcephaly	-	OMIM:615777
5745	PTH1R	HP:0000248	Brachycephaly	-	OMIM:156400
5745	PTH1R	HP:0000218	High palate	HP:0040282	ORPHA:33067
5745	PTH1R	HP:0001561	Polyhydramnios	-	OMIM:215045
5745	PTH1R	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0002857	Genu valgum	HP:0040283	ORPHA:296
5745	PTH1R	HP:0002857	Genu valgum	-	OMIM:131300
5745	PTH1R	HP:0001538	Protuberant abdomen	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0001533	Slender build	-	OMIM:131300
5745	PTH1R	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5745	PTH1R	HP:0007807	Optic nerve compression	-	OMIM:131300
5745	PTH1R	HP:0012368	Flat face	7/7	OMIM:615777
5745	PTH1R	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5745	PTH1R	HP:0005151	Preductal coarctation of the aorta	2/2	OMIM:215045
5745	PTH1R	HP:0006487	Bowing of the long bones	HP:0040282	ORPHA:50945
5745	PTH1R	HP:0006487	Bowing of the long bones	HP:0040282	ORPHA:33067
5745	PTH1R	HP:0006487	Bowing of the long bones	-	OMIM:156400
5745	PTH1R	HP:0000365	Hearing impairment	-	OMIM:156400
5745	PTH1R	HP:0000365	Hearing impairment	10/67	OMIM:131300
5745	PTH1R	HP:0000369	Low-set ears	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0000343	Long philtrum	1/7	OMIM:615777
5745	PTH1R	HP:0000343	Long philtrum	HP:0040282	ORPHA:50945
5745	PTH1R	HP:0011001	Increased bone mineral density	-	OMIM:131300
5745	PTH1R	HP:0011001	Increased bone mineral density	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:50945
5745	PTH1R	HP:0000347	Micrognathia	-	OMIM:156400
5745	PTH1R	HP:0000347	Micrognathia	2/2	OMIM:215045
5745	PTH1R	HP:0000347	Micrognathia	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0000347	Micrognathia	HP:0040282	ORPHA:33067
5745	PTH1R	HP:0002983	Micromelia	-	OMIM:215045
5745	PTH1R	HP:0002983	Micromelia	HP:0040281	ORPHA:296
5745	PTH1R	HP:0000316	Hypertelorism	-	OMIM:156400
5745	PTH1R	HP:0000316	Hypertelorism	1/1	OMIM:600002
5745	PTH1R	HP:0000316	Hypertelorism	HP:0040282	ORPHA:33067
5745	PTH1R	HP:0000311	Round face	2/7	OMIM:615777
5745	PTH1R	HP:0000322	Short philtrum	1/1	OMIM:600002
5745	PTH1R	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:296
5745	PTH1R	HP:0001622	Premature birth	-	OMIM:215045
5745	PTH1R	HP:0001622	Premature birth	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0002970	Genu varum	HP:0040283	ORPHA:296
5745	PTH1R	HP:0002970	Genu varum	-	OMIM:615777
5745	PTH1R	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:296
5745	PTH1R	HP:0002967	Cubitus valgus	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0000303	Mandibular prognathia	-	OMIM:131300
5745	PTH1R	HP:0006660	Aplastic clavicle	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0005280	Depressed nasal bridge	2/2	OMIM:215045
5745	PTH1R	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5745	PTH1R	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:33067
5745	PTH1R	HP:0000463	Anteverted nares	HP:0040282	ORPHA:50945
5745	PTH1R	HP:0001791	Fetal ascites	2/2	OMIM:215045
5745	PTH1R	HP:0001789	Hydrops fetalis	2/2	OMIM:215045
5745	PTH1R	HP:0001789	Hydrops fetalis	HP:0040282	ORPHA:50945
5745	PTH1R	HP:0000470	Short neck	1/7	OMIM:615777
5745	PTH1R	HP:0001773	Short foot	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5745	PTH1R	HP:0001769	Broad foot	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0001763	Pes planus	1/7	OMIM:615777
5745	PTH1R	HP:0000453	Choanal atresia	-	OMIM:156400
5745	PTH1R	HP:0001783	Broad metatarsal	1/1	OMIM:600002
5745	PTH1R	HP:0000452	Choanal stenosis	-	OMIM:156400
5745	PTH1R	HP:0006765	Chondrosarcoma	HP:0040283	ORPHA:296
5745	PTH1R	HP:0000518	Cataract	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0001847	Long hallux	1/1	OMIM:600002
5745	PTH1R	HP:0001840	Metatarsus adductus	-	OMIM:615777
5745	PTH1R	HP:0000520	Proptosis	2/4	OMIM:131300
5745	PTH1R	HP:0000520	Proptosis	7/7	OMIM:615777
5745	PTH1R	HP:0000520	Proptosis	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0000520	Proptosis	HP:0040283	ORPHA:33067
5745	PTH1R	HP:0000520	Proptosis	-	OMIM:156400
5745	PTH1R	HP:0000506	Telecanthus	HP:0040281	ORPHA:50945
5745	PTH1R	HP:0001831	Short toe	HP:0040282	ORPHA:79106
5745	PTH1R	HP:0000592	Blue sclerae	2/7	OMIM:615777
5745	PTH1R	HP:0011220	Prominent forehead	1/1	OMIM:600002
5745	PTH1R	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5745	PTH1R	HP:0012514	Lower limb pain	4/4	OMIM:131300
5770	PTPN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
5770	PTPN1	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
5770	PTPN1	HP:0003584	Late onset	-	OMIM:125853
5770	PTPN1	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
5770	PTPN1	HP:0000855	Insulin resistance	-	OMIM:125853
5771	PTPN2	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:85408
5771	PTPN2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:85408
5771	PTPN2	HP:0001370	Rheumatoid arthritis	HP:0040283	ORPHA:85410
5771	PTPN2	HP:0001369	Arthritis	HP:0040281	ORPHA:85410
5771	PTPN2	HP:0001369	Arthritis	HP:0040282	ORPHA:85408
5771	PTPN2	HP:0001386	Joint swelling	HP:0040282	ORPHA:85408
5771	PTPN2	HP:0001387	Joint stiffness	HP:0040282	ORPHA:85408
5771	PTPN2	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:85410
5771	PTPN2	HP:0001384	Abnormal hip joint morphology	HP:0040283	ORPHA:85408
5771	PTPN2	HP:0008850	Severe postnatal growth retardation	HP:0040283	ORPHA:85410
5771	PTPN2	HP:0008843	Hip osteoarthritis	HP:0040283	ORPHA:85408
5771	PTPN2	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:85410
5771	PTPN2	HP:0001433	Hepatosplenomegaly	HP:0040284	ORPHA:85408
5771	PTPN2	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:85408
5771	PTPN2	HP:0040313	Oligoarthritis	HP:0040283	ORPHA:85408
5771	PTPN2	HP:0040313	Oligoarthritis	HP:0040281	ORPHA:85410
5771	PTPN2	HP:0003326	Myalgia	HP:0040283	ORPHA:85408
5771	PTPN2	HP:0003319	Abnormality of the cervical spine	HP:0040283	ORPHA:85408
5771	PTPN2	HP:0011911	Abnormal metacarpophalangeal joint morphology	HP:0040283	ORPHA:85408
5771	PTPN2	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:85410
5771	PTPN2	HP:0003493	Antinuclear antibody positivity	HP:0040283	ORPHA:85408
5771	PTPN2	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:85410
5771	PTPN2	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:85408
5771	PTPN2	HP:0100769	Synovitis	HP:0040282	ORPHA:85408
5771	PTPN2	HP:0001094	Iridocyclitis	HP:0040284	ORPHA:85408
5771	PTPN2	HP:0100686	Enthesitis	HP:0040282	ORPHA:85408
5771	PTPN2	HP:0010754	Abnormality of the temporomandibular joint	HP:0040283	ORPHA:85408
5771	PTPN2	HP:0001903	Anemia	HP:0040283	ORPHA:85408
5771	PTPN2	HP:0003028	Abnormality of the ankle	HP:0040282	ORPHA:85410
5771	PTPN2	HP:0003043	Abnormal shoulder morphology	HP:0040283	ORPHA:85408
5771	PTPN2	HP:0003019	Abnormality of the wrist	HP:0040282	ORPHA:85408
5771	PTPN2	HP:0002829	Arthralgia	HP:0040282	ORPHA:85408
5771	PTPN2	HP:0005086	Knee osteoarthritis	HP:0040282	ORPHA:85408
5771	PTPN2	HP:0005086	Knee osteoarthritis	HP:0040282	ORPHA:85410
5771	PTPN2	HP:0001530	Mild postnatal growth retardation	HP:0040283	ORPHA:85408
5771	PTPN2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:85410
5771	PTPN2	HP:0007833	Anterior chamber synechiae	HP:0040283	ORPHA:85410
5771	PTPN2	HP:0005186	Synovial lining hyperplasia	HP:0040282	ORPHA:85408
5771	PTPN2	HP:0002960	Autoimmunity	HP:0040282	ORPHA:85410
5771	PTPN2	HP:0011134	Low-grade fever	HP:0040283	ORPHA:85408
5771	PTPN2	HP:0011117	Abnormal circulating interleukin concentration	HP:0040282	ORPHA:85410
5771	PTPN2	HP:0001785	Ankle swelling	HP:0040282	ORPHA:85408
5771	PTPN2	HP:0000518	Cataract	HP:0040284	ORPHA:85410
5771	PTPN2	HP:0001824	Weight loss	HP:0040283	ORPHA:85408
5771	PTPN2	HP:0001832	Abnormal metatarsal morphology	HP:0040283	ORPHA:85408
5771	PTPN2	HP:0000501	Glaucoma	HP:0040284	ORPHA:85410
5771	PTPN2	HP:0000585	Band keratopathy	HP:0040283	ORPHA:85410
5771	PTPN2	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040282	ORPHA:85410
5771	PTPN2	HP:0000554	Uveitis	HP:0040282	ORPHA:85410
5771	PTPN2	HP:0000554	Uveitis	HP:0040283	ORPHA:85408
5771	PTPN2	HP:0000572	Visual loss	HP:0040283	ORPHA:85410
5774	PTPN3	HP:0002027	Abdominal pain	HP:0040283	ORPHA:70567
5774	PTPN3	HP:0002039	Anorexia	HP:0040283	ORPHA:70567
5774	PTPN3	HP:0100574	Biliary tract neoplasm	HP:0040281	ORPHA:70567
5774	PTPN3	HP:0011985	Acholic stools	HP:0040281	ORPHA:70567
5774	PTPN3	HP:0001945	Fever	HP:0040283	ORPHA:70567
5774	PTPN3	HP:0000989	Pruritus	HP:0040282	ORPHA:70567
5774	PTPN3	HP:0000952	Jaundice	HP:0040281	ORPHA:70567
5774	PTPN3	HP:0012378	Fatigue	HP:0040282	ORPHA:70567
5777	PTPN6	HP:0001155	Abnormality of the hand	HP:0040282	ORPHA:3243
5777	PTPN6	HP:0032324	Non-periodic recurrent fever	HP:0040282	ORPHA:3243
5777	PTPN6	HP:0002664	Neoplasm	HP:0040283	ORPHA:3243
5777	PTPN6	HP:0025474	Erythematous plaque	HP:0040281	ORPHA:3243
5777	PTPN6	HP:0025452	Pyoderma gangrenosum	HP:0040283	ORPHA:3243
5777	PTPN6	HP:0031236	Predominantly dermal neutrophilic infiltrate	HP:0040281	ORPHA:3243
5777	PTPN6	HP:0002719	Recurrent infections	HP:0040283	ORPHA:3243
5777	PTPN6	HP:0002037	Inflammation of the large intestine	HP:0040283	ORPHA:3243
5777	PTPN6	HP:0040313	Oligoarthritis	HP:0040283	ORPHA:3243
5777	PTPN6	HP:0003326	Myalgia	HP:0040282	ORPHA:3243
5777	PTPN6	HP:0011897	Increased total neutrophil count	HP:0040282	ORPHA:3243
5777	PTPN6	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:3243
5777	PTPN6	HP:0011944	Small vessel vasculitis	HP:0040282	ORPHA:3243
5777	PTPN6	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:3243
5777	PTPN6	HP:0001061	Acne	HP:0040282	ORPHA:3243
5777	PTPN6	HP:0200037	Skin vesicle	HP:0040283	ORPHA:3243
5777	PTPN6	HP:0200036	Skin nodule	HP:0040281	ORPHA:3243
5777	PTPN6	HP:0100614	Myositis	HP:0040282	ORPHA:3243
5777	PTPN6	HP:0200039	Pustule	HP:0040283	ORPHA:3243
5777	PTPN6	HP:0020169	Abnormal drug response	HP:0040283	ORPHA:3243
5777	PTPN6	HP:0005550	Chronic lymphatic leukemia	HP:0040284	ORPHA:3243
5777	PTPN6	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:3243
5777	PTPN6	HP:0001903	Anemia	HP:0040283	ORPHA:3243
5777	PTPN6	HP:0003002	Breast carcinoma	HP:0040284	ORPHA:3243
5777	PTPN6	HP:0004377	Hematological neoplasm	HP:0040283	ORPHA:3243
5777	PTPN6	HP:0030783	Increased circulating interleukin 6 concentration	HP:0040282	ORPHA:3243
5777	PTPN6	HP:0040154	Acne inversa	HP:0040283	ORPHA:3243
5777	PTPN6	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:3243
5777	PTPN6	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:3243
5777	PTPN6	HP:0002829	Arthralgia	HP:0040282	ORPHA:3243
5777	PTPN6	HP:0025616	Sterile abscess	HP:0040282	ORPHA:3243
5777	PTPN6	HP:0001644	Dilated cardiomyopathy	HP:0040284	ORPHA:3243
5777	PTPN6	HP:0012490	Panniculitis	HP:0040283	ORPHA:3243
5777	PTPN6	HP:0000464	Abnormality of the neck	HP:0040282	ORPHA:3243
5777	PTPN6	HP:0011118	Abnormality of tumor necrosis factor secretion	HP:0040282	ORPHA:3243
5777	PTPN6	HP:0011117	Abnormal circulating interleukin concentration	HP:0040281	ORPHA:3243
5777	PTPN6	HP:0030350	Erythematous papule	HP:0040281	ORPHA:3243
5777	PTPN6	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:3243
5777	PTPN6	HP:0012531	Pain	HP:0040281	ORPHA:3243
5781	PTPN11	HP:0001156	Brachydactyly	HP:0040283	ORPHA:648
5781	PTPN11	HP:0001156	Brachydactyly	-	OMIM:163950
5781	PTPN11	HP:0010946	Dilatation of the renal pelvis	HP:0040283	ORPHA:648
5781	PTPN11	HP:0008625	Severe sensorineural hearing impairment	HP:0040281	ORPHA:500
5781	PTPN11	HP:0010885	Avascular necrosis	HP:0040281	ORPHA:2499
5781	PTPN11	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5781	PTPN11	HP:0001293	Cranial nerve compression	-	OMIM:131300
5781	PTPN11	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:500
5781	PTPN11	HP:0001256	Intellectual disability, mild	2/9	OMIM:151100
5781	PTPN11	HP:0001252	Hypotonia	HP:0040282	ORPHA:648
5781	PTPN11	HP:0001252	Hypotonia	2/7	OMIM:615777
5781	PTPN11	HP:0001249	Intellectual disability	0/12	OMIM:156250
5781	PTPN11	HP:0001249	Intellectual disability	HP:0040283	ORPHA:648
5781	PTPN11	HP:0001249	Intellectual disability	5/7	OMIM:615777
5781	PTPN11	HP:0001249	Intellectual disability	4/17	OMIM:163950
5781	PTPN11	HP:0001260	Dysarthria	HP:0040281	ORPHA:648
5781	PTPN11	HP:0001263	Global developmental delay	HP:0040283	ORPHA:500
5781	PTPN11	HP:0001263	Global developmental delay	-	OMIM:615777
5781	PTPN11	HP:0008724	Hypoplasia of the ovary	-	OMIM:151100
5781	PTPN11	HP:0007392	Excessive wrinkled skin	HP:0040283	ORPHA:500
5781	PTPN11	HP:0002515	Waddling gait	54/102	OMIM:131300
5781	PTPN11	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:648
5781	PTPN11	HP:0000078	Abnormality of the genital system	HP:0040281	ORPHA:500
5781	PTPN11	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:648
5781	PTPN11	HP:0001367	Abnormal joint morphology	-	OMIM:156250
5781	PTPN11	HP:0000054	Micropenis	-	OMIM:151100
5781	PTPN11	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:648
5781	PTPN11	HP:0001382	Joint hypermobility	-	OMIM:615777
5781	PTPN11	HP:0000047	Hypospadias	HP:0040283	ORPHA:500
5781	PTPN11	HP:0000047	Hypospadias	-	OMIM:151100
5781	PTPN11	HP:0000047	Hypospadias	1/8	OMIM:163950
5781	PTPN11	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5781	PTPN11	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:500
5781	PTPN11	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:648
5781	PTPN11	HP:0000028	Cryptorchidism	-	OMIM:151100
5781	PTPN11	HP:0000028	Cryptorchidism	27/32	OMIM:163950
5781	PTPN11	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5781	PTPN11	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:648
5781	PTPN11	HP:0008897	Postnatal growth retardation	-	OMIM:163950
5781	PTPN11	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:648
5781	PTPN11	HP:0008872	Feeding difficulties in infancy	35/56	OMIM:163950
5781	PTPN11	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:648
5781	PTPN11	HP:0001328	Specific learning disability	HP:0040283	ORPHA:648
5781	PTPN11	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5781	PTPN11	HP:0001324	Muscle weakness	HP:0040281	ORPHA:648
5781	PTPN11	HP:0001324	Muscle weakness	40/96	OMIM:131300
5781	PTPN11	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5781	PTPN11	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5781	PTPN11	HP:0000006	Autosomal dominant inheritance	-	OMIM:156250
5781	PTPN11	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
5781	PTPN11	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
5781	PTPN11	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5781	PTPN11	HP:0000006	Autosomal dominant inheritance	-	OMIM:151100
5781	PTPN11	HP:0000006	Autosomal dominant inheritance	-	OMIM:607785
5781	PTPN11	HP:0000006	Autosomal dominant inheritance	-	OMIM:163950
5781	PTPN11	HP:0002653	Bone pain	HP:0040281	ORPHA:2499
5781	PTPN11	HP:0002650	Scoliosis	HP:0040283	ORPHA:500
5781	PTPN11	HP:0002650	Scoliosis	HP:0040282	ORPHA:648
5781	PTPN11	HP:0002650	Scoliosis	12/14	OMIM:131300
5781	PTPN11	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5781	PTPN11	HP:0002619	Varicose veins	-	OMIM:153400
5781	PTPN11	HP:0002617	Vascular dilatation	HP:0040283	ORPHA:500
5781	PTPN11	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5781	PTPN11	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5781	PTPN11	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:648
5781	PTPN11	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5781	PTPN11	HP:0000175	Cleft palate	-	OMIM:151100
5781	PTPN11	HP:0000175	Cleft palate	5/39	OMIM:153400
5781	PTPN11	HP:0000175	Cleft palate	2/7	OMIM:615777
5781	PTPN11	HP:0000175	Cleft palate	1/18	OMIM:163950
5781	PTPN11	HP:0000144	Decreased fertility	HP:0040282	ORPHA:500
5781	PTPN11	HP:0000135	Hypogonadism	HP:0040283	OMIM:163950
5781	PTPN11	HP:0001480	Freckling	HP:0040281	ORPHA:500
5781	PTPN11	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:500
5781	PTPN11	HP:0002705	High, narrow palate	-	OMIM:163950
5781	PTPN11	HP:0000122	Unilateral renal agenesis	-	OMIM:151100
5781	PTPN11	HP:0002762	Multiple exostoses	12/12	OMIM:156250
5781	PTPN11	HP:0001442	Typified by somatic mosaicism	-	OMIM:607785
5781	PTPN11	HP:0002751	Kyphoscoliosis	-	OMIM:151100
5781	PTPN11	HP:0002751	Kyphoscoliosis	-	OMIM:163950
5781	PTPN11	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:648
5781	PTPN11	HP:0011800	Midface retrusion	HP:0040281	ORPHA:648
5781	PTPN11	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:500
5781	PTPN11	HP:0003388	Easy fatigability	36/76	OMIM:131300
5781	PTPN11	HP:0009466	Radial deviation of finger	-	OMIM:163950
5781	PTPN11	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5781	PTPN11	HP:0011710	Bundle branch block	-	OMIM:151100
5781	PTPN11	HP:0011710	Bundle branch block	HP:0040281	ORPHA:500
5781	PTPN11	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2499
5781	PTPN11	HP:0010463	Aplasia of the ovary	-	OMIM:151100
5781	PTPN11	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:648
5781	PTPN11	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:648
5781	PTPN11	HP:0002162	Low posterior hairline	86/138	OMIM:163950
5781	PTPN11	HP:0011869	Abnormal platelet function	HP:0040282	ORPHA:648
5781	PTPN11	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:648
5781	PTPN11	HP:0002224	Woolly hair	9/107	OMIM:163950
5781	PTPN11	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
5781	PTPN11	HP:0004859	Amegakaryocytic thrombocytopenia	-	OMIM:163950
5781	PTPN11	HP:0002208	Coarse hair	HP:0040282	ORPHA:648
5781	PTPN11	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:648
5781	PTPN11	HP:0100769	Synovitis	-	OMIM:163950
5781	PTPN11	HP:0009743	Distichiasis	42/42	OMIM:153400
5781	PTPN11	HP:0100777	Exostoses	HP:0040281	ORPHA:2499
5781	PTPN11	HP:0008357	Reduced factor XIII activity	-	OMIM:163950
5781	PTPN11	HP:0003510	Severe short stature	7/7	OMIM:615777
5781	PTPN11	HP:0004841	Reduced factor XII activity	-	OMIM:163950
5781	PTPN11	HP:0003691	Scapular winging	HP:0040282	ORPHA:500
5781	PTPN11	HP:0003691	Scapular winging	-	OMIM:151100
5781	PTPN11	HP:0001004	Lymphedema	HP:0040283	ORPHA:648
5781	PTPN11	HP:0001004	Lymphedema	-	OMIM:153400
5781	PTPN11	HP:0001004	Lymphedema	-	OMIM:163950
5781	PTPN11	HP:0002315	Headache	-	OMIM:131300
5781	PTPN11	HP:0004976	Knee dislocation	6/7	OMIM:615777
5781	PTPN11	HP:0001003	Multiple lentigines	9/9	OMIM:151100
5781	PTPN11	HP:0001003	Multiple lentigines	HP:0040281	ORPHA:500
5781	PTPN11	HP:0100658	Cellulitis	2/6	OMIM:153400
5781	PTPN11	HP:0100625	Enlarged thorax	HP:0040281	ORPHA:648
5781	PTPN11	HP:0009803	Short phalanx of finger	-	OMIM:615777
5781	PTPN11	HP:0100697	Neurofibrosarcoma	-	OMIM:163950
5781	PTPN11	HP:0009763	Limb pain	63/92	OMIM:131300
5781	PTPN11	HP:0003621	Juvenile onset	-	OMIM:131300
5781	PTPN11	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5781	PTPN11	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:648
5781	PTPN11	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
5781	PTPN11	HP:0006824	Cranial nerve paralysis	HP:0040281	ORPHA:2499
5781	PTPN11	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5781	PTPN11	HP:0000639	Nystagmus	HP:0040283	ORPHA:648
5781	PTPN11	HP:0000635	Blue irides	HP:0040282	ORPHA:648
5781	PTPN11	HP:6001056	Out-toeing	-	OMIM:131300
5781	PTPN11	HP:0000651	Diplopia	-	OMIM:131300
5781	PTPN11	HP:0000613	Photophobia	10/49	OMIM:153400
5781	PTPN11	HP:0001956	Truncal obesity	2/7	OMIM:615777
5781	PTPN11	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:648
5781	PTPN11	HP:0001903	Anemia	HP:0040283	OMIM:131300
5781	PTPN11	HP:0010049	Short metacarpal	-	OMIM:615777
5781	PTPN11	HP:0011381	Aplasia of the semicircular canal	HP:0040283	ORPHA:648
5781	PTPN11	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
5781	PTPN11	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:648
5781	PTPN11	HP:0000678	Dental crowding	-	OMIM:615777
5781	PTPN11	HP:0000689	Dental malocclusion	-	OMIM:163950
5781	PTPN11	HP:0000656	Ectropion	2/43	OMIM:153400
5781	PTPN11	HP:0000670	Carious teeth	-	OMIM:131300
5781	PTPN11	HP:0011304	Broad thumb	2/7	OMIM:615777
5781	PTPN11	HP:0000668	Hypodontia	-	OMIM:615777
5781	PTPN11	HP:0000664	Synophrys	-	OMIM:615777
5781	PTPN11	HP:0005655	Multiple digital exostoses	-	OMIM:156250
5781	PTPN11	HP:0004322	Short stature	HP:0040281	ORPHA:648
5781	PTPN11	HP:0004322	Short stature	HP:0040282	ORPHA:500
5781	PTPN11	HP:0004322	Short stature	2/9	OMIM:151100
5781	PTPN11	HP:0004322	Short stature	43/107	OMIM:163950
5781	PTPN11	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:500
5781	PTPN11	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:500
5781	PTPN11	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:648
5781	PTPN11	HP:0004396	Poor appetite	-	OMIM:131300
5781	PTPN11	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5781	PTPN11	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5781	PTPN11	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5781	PTPN11	HP:0003011	Abnormality of the musculature	-	OMIM:153400
5781	PTPN11	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:500
5781	PTPN11	HP:0003026	Short long bone	7/7	OMIM:615777
5781	PTPN11	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5781	PTPN11	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:500
5781	PTPN11	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:648
5781	PTPN11	HP:0000767	Pectus excavatum	-	OMIM:151100
5781	PTPN11	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5781	PTPN11	HP:0000766	Abnormal sternum morphology	3/18	OMIM:163950
5781	PTPN11	HP:0000768	Pectus carinatum	-	OMIM:151100
5781	PTPN11	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5781	PTPN11	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:500
5781	PTPN11	HP:0000768	Pectus carinatum	HP:0040281	ORPHA:648
5781	PTPN11	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5781	PTPN11	HP:0000750	Delayed speech and language development	-	OMIM:615777
5781	PTPN11	HP:0011461	Fetal onset	7/7	OMIM:615777
5781	PTPN11	HP:0000774	Narrow chest	2/7	OMIM:615777
5781	PTPN11	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:648
5781	PTPN11	HP:0003115	Abnormal EKG	HP:0040281	ORPHA:648
5781	PTPN11	HP:0004415	Pulmonary artery stenosis	HP:0040281	ORPHA:648
5781	PTPN11	HP:0004414	Abnormality of the pulmonary artery	HP:0040281	ORPHA:500
5781	PTPN11	HP:0004409	Hyposmia	-	OMIM:151100
5781	PTPN11	HP:0005701	Multiple enchondromatosis	12/12	OMIM:156250
5781	PTPN11	HP:0005701	Multiple enchondromatosis	HP:0040281	ORPHA:2499
5781	PTPN11	HP:0000917	Superior pectus carinatum	-	OMIM:163950
5781	PTPN11	HP:0000914	Shield chest	-	OMIM:163950
5781	PTPN11	HP:0000915	Pectus excavatum of inferior sternum	-	OMIM:163950
5781	PTPN11	HP:0000912	Sprengel anomaly	HP:0040282	ORPHA:500
5781	PTPN11	HP:0000926	Platyspondyly	1/7	OMIM:615777
5781	PTPN11	HP:0000921	Missing ribs	-	OMIM:151100
5781	PTPN11	HP:0003180	Flat acetabular roof	-	OMIM:615777
5781	PTPN11	HP:0004482	Relative macrocephaly	-	OMIM:615777
5781	PTPN11	HP:0004467	Preauricular pit	-	OMIM:187500
5781	PTPN11	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5781	PTPN11	HP:0012804	Corneal ulceration	-	OMIM:153400
5781	PTPN11	HP:0000823	Delayed puberty	-	OMIM:131300
5781	PTPN11	HP:0000823	Delayed puberty	-	OMIM:151100
5781	PTPN11	HP:0000894	Short clavicles	-	OMIM:615777
5781	PTPN11	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5781	PTPN11	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:500
5781	PTPN11	HP:0003298	Spina bifida occulta	-	OMIM:151100
5781	PTPN11	HP:0003251	Male infertility	-	OMIM:163950
5781	PTPN11	HP:0000995	Melanocytic nevus	HP:0040281	ORPHA:500
5781	PTPN11	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:648
5781	PTPN11	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:648
5781	PTPN11	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040283	ORPHA:500
5781	PTPN11	HP:0010310	Chylothorax	1/6	OMIM:153400
5781	PTPN11	HP:0010310	Chylothorax	1/18	OMIM:163950
5781	PTPN11	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:648
5781	PTPN11	HP:0000978	Bruising susceptibility	32/56	OMIM:163950
5781	PTPN11	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:500
5781	PTPN11	HP:0000958	Dry skin	5/107	OMIM:163950
5781	PTPN11	HP:0000957	Cafe-au-lait spot	9/9	OMIM:151100
5781	PTPN11	HP:0000957	Cafe-au-lait spot	10/107	OMIM:163950
5781	PTPN11	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5781	PTPN11	HP:0000938	Osteopenia	HP:0040283	ORPHA:648
5781	PTPN11	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2499
5781	PTPN11	HP:0011675	Arrhythmia	-	OMIM:153400
5781	PTPN11	HP:0011675	Arrhythmia	HP:0040281	ORPHA:500
5781	PTPN11	HP:0011675	Arrhythmia	HP:0040282	ORPHA:648
5781	PTPN11	HP:0000286	Epicanthus	-	OMIM:151100
5781	PTPN11	HP:0000286	Epicanthus	1/7	OMIM:615777
5781	PTPN11	HP:0000286	Epicanthus	15/28	OMIM:163950
5781	PTPN11	HP:0000280	Coarse facial features	2/7	OMIM:615777
5781	PTPN11	HP:0000256	Macrocephaly	7/9	OMIM:151100
5781	PTPN11	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:500
5781	PTPN11	HP:0002827	Hip dislocation	3/7	OMIM:615777
5781	PTPN11	HP:0030084	Clinodactyly	-	OMIM:163950
5781	PTPN11	HP:0002808	Kyphosis	2/5	OMIM:153400
5781	PTPN11	HP:0000242	Parietal bossing	-	OMIM:151100
5781	PTPN11	HP:0000252	Microcephaly	-	OMIM:615777
5781	PTPN11	HP:0000248	Brachycephaly	HP:0040283	ORPHA:500
5781	PTPN11	HP:0012209	Juvenile myelomonocytic leukemia	HP:0040283	ORPHA:648
5781	PTPN11	HP:0012209	Juvenile myelomonocytic leukemia	-	OMIM:607785
5781	PTPN11	HP:0012209	Juvenile myelomonocytic leukemia	2/18	OMIM:163950
5781	PTPN11	HP:0000218	High palate	HP:0040281	ORPHA:648
5781	PTPN11	HP:0000218	High palate	-	OMIM:163950
5781	PTPN11	HP:0002861	Melanoma	HP:0040283	ORPHA:500
5781	PTPN11	HP:0001531	Failure to thrive in infancy	-	OMIM:163950
5781	PTPN11	HP:0002857	Genu valgum	-	OMIM:131300
5781	PTPN11	HP:0001533	Slender build	-	OMIM:131300
5781	PTPN11	HP:0000204	Cleft upper lip	-	OMIM:153400
5781	PTPN11	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:500
5781	PTPN11	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:500
5781	PTPN11	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5781	PTPN11	HP:0001510	Growth delay	HP:0040281	ORPHA:500
5781	PTPN11	HP:0007807	Optic nerve compression	-	OMIM:131300
5781	PTPN11	HP:0012368	Flat face	7/7	OMIM:615777
5781	PTPN11	HP:0000391	Thickened helices	HP:0040281	ORPHA:648
5781	PTPN11	HP:0001608	Abnormality of the voice	HP:0040283	ORPHA:500
5781	PTPN11	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5781	PTPN11	HP:0006487	Bowing of the long bones	-	OMIM:156250
5781	PTPN11	HP:0000365	Hearing impairment	10/67	OMIM:131300
5781	PTPN11	HP:0000365	Hearing impairment	2/17	OMIM:163950
5781	PTPN11	HP:0000358	Posteriorly rotated ears	0/12	OMIM:156250
5781	PTPN11	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:500
5781	PTPN11	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:648
5781	PTPN11	HP:0000358	Posteriorly rotated ears	9/9	OMIM:151100
5781	PTPN11	HP:0000369	Low-set ears	-	OMIM:151100
5781	PTPN11	HP:0000369	Low-set ears	96/137	OMIM:163950
5781	PTPN11	HP:0001674	Complete atrioventricular canal defect	1/9	OMIM:151100
5781	PTPN11	HP:0000343	Long philtrum	1/7	OMIM:615777
5781	PTPN11	HP:0011001	Increased bone mineral density	-	OMIM:131300
5781	PTPN11	HP:0000337	Broad forehead	-	OMIM:187500
5781	PTPN11	HP:0000337	Broad forehead	34/107	OMIM:163950
5781	PTPN11	HP:0002996	Limited elbow movement	-	OMIM:151100
5781	PTPN11	HP:0001682	Subvalvular aortic stenosis	1/9	OMIM:151100
5781	PTPN11	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:648
5781	PTPN11	HP:0001680	Coarctation of aorta	-	OMIM:163950
5781	PTPN11	HP:0000348	High forehead	HP:0040281	ORPHA:648
5781	PTPN11	HP:0000347	Micrognathia	2/5	OMIM:153400
5781	PTPN11	HP:0000347	Micrognathia	HP:0040281	ORPHA:648
5781	PTPN11	HP:0000347	Micrognathia	-	OMIM:163950
5781	PTPN11	HP:0000316	Hypertelorism	0/12	OMIM:156250
5781	PTPN11	HP:0000316	Hypertelorism	HP:0040281	ORPHA:500
5781	PTPN11	HP:0000316	Hypertelorism	HP:0040281	ORPHA:648
5781	PTPN11	HP:0000316	Hypertelorism	9/9	OMIM:151100
5781	PTPN11	HP:0000316	Hypertelorism	68/135	OMIM:163950
5781	PTPN11	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:648
5781	PTPN11	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
5781	PTPN11	HP:0001643	Patent ductus arteriosus	-	OMIM:163950
5781	PTPN11	HP:0000311	Round face	2/7	OMIM:615777
5781	PTPN11	HP:0001642	Pulmonic stenosis	0/12	OMIM:156250
5781	PTPN11	HP:0001642	Pulmonic stenosis	HP:0040281	ORPHA:500
5781	PTPN11	HP:0001642	Pulmonic stenosis	3/9	OMIM:151100
5781	PTPN11	HP:0001642	Pulmonic stenosis	92/181	OMIM:163950
5781	PTPN11	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:648
5781	PTPN11	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:500
5781	PTPN11	HP:0000325	Triangular face	-	OMIM:151100
5781	PTPN11	HP:0000325	Triangular face	HP:0040283	ORPHA:500
5781	PTPN11	HP:0000325	Triangular face	HP:0040281	ORPHA:648
5781	PTPN11	HP:0000325	Triangular face	-	OMIM:163950
5781	PTPN11	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
5781	PTPN11	HP:0001629	Ventricular septal defect	5/107	OMIM:163950
5781	PTPN11	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:648
5781	PTPN11	HP:0001641	Abnormal pulmonary valve morphology	HP:0040281	ORPHA:500
5781	PTPN11	HP:0002970	Genu varum	-	OMIM:615777
5781	PTPN11	HP:0001639	Hypertrophic cardiomyopathy	3/9	OMIM:151100
5781	PTPN11	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:500
5781	PTPN11	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:648
5781	PTPN11	HP:0001639	Hypertrophic cardiomyopathy	13/181	OMIM:163950
5781	PTPN11	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
5781	PTPN11	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
5781	PTPN11	HP:0002967	Cubitus valgus	-	OMIM:151100
5781	PTPN11	HP:0002967	Cubitus valgus	13/107	OMIM:163950
5781	PTPN11	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:648
5781	PTPN11	HP:0001631	Atrial septal defect	70/181	OMIM:163950
5781	PTPN11	HP:0000303	Mandibular prognathia	-	OMIM:131300
5781	PTPN11	HP:0000303	Mandibular prognathia	-	OMIM:151100
5781	PTPN11	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:500
5781	PTPN11	HP:0001634	Mitral valve prolapse	1/9	OMIM:151100
5781	PTPN11	HP:0001633	Abnormal mitral valve morphology	HP:0040282	ORPHA:500
5781	PTPN11	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:648
5781	PTPN11	HP:0006610	Wide intermamillary distance	37/107	OMIM:163950
5781	PTPN11	HP:0006695	Atrioventricular canal defect	HP:0040282	ORPHA:500
5781	PTPN11	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:500
5781	PTPN11	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:648
5781	PTPN11	HP:0000407	Sensorineural hearing impairment	-	OMIM:151100
5781	PTPN11	HP:0000407	Sensorineural hearing impairment	-	OMIM:163950
5781	PTPN11	HP:0001709	Third degree atrioventricular block	-	OMIM:151100
5781	PTPN11	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5781	PTPN11	HP:0000486	Strabismus	HP:0040282	ORPHA:648
5781	PTPN11	HP:0000486	Strabismus	-	OMIM:151100
5781	PTPN11	HP:0000476	Cystic hygroma	HP:0040281	ORPHA:648
5781	PTPN11	HP:0000476	Cystic hygroma	2/43	OMIM:153400
5781	PTPN11	HP:0000476	Cystic hygroma	-	OMIM:163950
5781	PTPN11	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
5781	PTPN11	HP:0000494	Downslanted palpebral fissures	0/12	OMIM:156250
5781	PTPN11	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:648
5781	PTPN11	HP:0000494	Downslanted palpebral fissures	19/28	OMIM:163950
5781	PTPN11	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
5781	PTPN11	HP:0000457	Depressed nasal ridge	-	OMIM:151100
5781	PTPN11	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:648
5781	PTPN11	HP:0000470	Short neck	-	OMIM:151100
5781	PTPN11	HP:0000470	Short neck	1/7	OMIM:615777
5781	PTPN11	HP:0000470	Short neck	15/29	OMIM:163950
5781	PTPN11	HP:0000465	Webbed neck	0/12	OMIM:156250
5781	PTPN11	HP:0000465	Webbed neck	HP:0040282	ORPHA:500
5781	PTPN11	HP:0000465	Webbed neck	HP:0040281	ORPHA:648
5781	PTPN11	HP:0000465	Webbed neck	-	OMIM:151100
5781	PTPN11	HP:0000465	Webbed neck	6/43	OMIM:153400
5781	PTPN11	HP:0000465	Webbed neck	65/107	OMIM:163950
5781	PTPN11	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5781	PTPN11	HP:0001763	Pes planus	1/7	OMIM:615777
5781	PTPN11	HP:0000411	Protruding ear	-	OMIM:151100
5781	PTPN11	HP:0001743	Abnormality of the spleen	HP:0040282	ORPHA:648
5781	PTPN11	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:500
5781	PTPN11	HP:0001840	Metatarsus adductus	-	OMIM:615777
5781	PTPN11	HP:0000520	Proptosis	2/4	OMIM:131300
5781	PTPN11	HP:0000520	Proptosis	-	OMIM:187500
5781	PTPN11	HP:0000520	Proptosis	7/7	OMIM:615777
5781	PTPN11	HP:0000520	Proptosis	HP:0040281	ORPHA:648
5781	PTPN11	HP:0000509	Conjunctivitis	-	OMIM:153400
5781	PTPN11	HP:0000508	Ptosis	HP:0040282	ORPHA:500
5781	PTPN11	HP:0000508	Ptosis	2/39	OMIM:153400
5781	PTPN11	HP:0000508	Ptosis	HP:0040281	ORPHA:648
5781	PTPN11	HP:0000508	Ptosis	8/9	OMIM:151100
5781	PTPN11	HP:0000508	Ptosis	77/136	OMIM:163950
5781	PTPN11	HP:0012569	Delayed menarche	HP:0040283	ORPHA:648
5781	PTPN11	HP:0012569	Delayed menarche	-	OMIM:151100
5781	PTPN11	HP:0000592	Blue sclerae	2/7	OMIM:615777
5781	PTPN11	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:648
5781	PTPN11	HP:0001892	Abnormal bleeding	3/18	OMIM:163950
5781	PTPN11	HP:0000568	Microphthalmia	1/6	OMIM:153400
5781	PTPN11	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5781	PTPN11	HP:0012514	Lower limb pain	4/4	OMIM:131300
5781	PTPN11	HP:0000545	Myopia	-	OMIM:163950
5782	PTPN12	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
5782	PTPN12	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
5782	PTPN12	HP:0005584	Renal cell carcinoma	-	OMIM:114500
5782	PTPN12	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
5782	PTPN12	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
5782	PTPN12	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
5782	PTPN12	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
5784	PTPN14	HP:0000007	Autosomal recessive inheritance	-	OMIM:613611
5784	PTPN14	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
5784	PTPN14	HP:0002619	Varicose veins	-	OMIM:153400
5784	PTPN14	HP:0000175	Cleft palate	5/39	OMIM:153400
5784	PTPN14	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
5784	PTPN14	HP:0009743	Distichiasis	42/42	OMIM:153400
5784	PTPN14	HP:0001004	Lymphedema	5/7	OMIM:613611
5784	PTPN14	HP:0001004	Lymphedema	-	OMIM:153400
5784	PTPN14	HP:0100658	Cellulitis	2/6	OMIM:153400
5784	PTPN14	HP:0000613	Photophobia	10/49	OMIM:153400
5784	PTPN14	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
5784	PTPN14	HP:0000656	Ectropion	2/43	OMIM:153400
5784	PTPN14	HP:0003011	Abnormality of the musculature	-	OMIM:153400
5784	PTPN14	HP:0012804	Corneal ulceration	-	OMIM:153400
5784	PTPN14	HP:0010310	Chylothorax	1/6	OMIM:153400
5784	PTPN14	HP:0011675	Arrhythmia	-	OMIM:153400
5784	PTPN14	HP:0002808	Kyphosis	2/5	OMIM:153400
5784	PTPN14	HP:0000218	High palate	-	OMIM:613611
5784	PTPN14	HP:0000204	Cleft upper lip	-	OMIM:153400
5784	PTPN14	HP:0001698	Pericardial effusion	-	OMIM:613611
5784	PTPN14	HP:0000347	Micrognathia	2/5	OMIM:153400
5784	PTPN14	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
5784	PTPN14	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
5784	PTPN14	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
5784	PTPN14	HP:0000476	Cystic hygroma	2/43	OMIM:153400
5784	PTPN14	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
5784	PTPN14	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
5784	PTPN14	HP:0000465	Webbed neck	6/43	OMIM:153400
5784	PTPN14	HP:0000453	Choanal atresia	7/7	OMIM:613611
5784	PTPN14	HP:0000509	Conjunctivitis	-	OMIM:153400
5784	PTPN14	HP:0000508	Ptosis	2/39	OMIM:153400
5784	PTPN14	HP:0000568	Microphthalmia	1/6	OMIM:153400
5788	PTPRC	HP:0010976	Decreased total B cell count	0/1	OMIM:619924
5788	PTPRC	HP:0003819	Death in childhood	1/1	OMIM:619924
5788	PTPRC	HP:0000007	Autosomal recessive inheritance	-	OMIM:619924
5788	PTPRC	HP:0012191	B-cell lymphoma	1/1	OMIM:619924
5788	PTPRC	HP:0001433	Hepatosplenomegaly	1/1	OMIM:619924
5788	PTPRC	HP:0002720	Decreased circulating IgA concentration	2/2	OMIM:619924
5788	PTPRC	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	1/1	OMIM:619924
5788	PTPRC	HP:0003593	Infantile onset	2/2	OMIM:619924
5788	PTPRC	HP:0001945	Fever	1/1	OMIM:619924
5788	PTPRC	HP:0004315	Decreased circulating IgG concentration	2/2	OMIM:619924
5788	PTPRC	HP:0004313	Decreased circulating immunoglobulin concentration	1/1	OMIM:619924
5788	PTPRC	HP:0040218	Reduced total natural killer cell count	1/1	OMIM:619924
5788	PTPRC	HP:0000988	Skin rash	1/1	OMIM:619924
5788	PTPRC	HP:0002850	Decreased circulating total IgM	1/1	OMIM:619924
5788	PTPRC	HP:0002849	Absence of lymph node germinal center	1/1	OMIM:619924
5788	PTPRC	HP:0005404	Increased total B cell count	1/1	OMIM:619924
5788	PTPRC	HP:0005403	Decreased total T cell count	1/1	OMIM:619924
5788	PTPRC	HP:0001888	Decreased total lymphocyte count	1/1	OMIM:619924
5788	PTPRC	HP:0001876	Pancytopenia	1/1	OMIM:619924
5792	PTPRF	HP:0002561	Absent nipple	2/3	OMIM:616001
5792	PTPRF	HP:0002557	Hypoplastic nipples	1/3	OMIM:616001
5792	PTPRF	HP:0100853	Hypoplastic areola	1/3	OMIM:616001
5792	PTPRF	HP:0002553	Highly arched eyebrow	2/3	OMIM:616001
5792	PTPRF	HP:0000028	Cryptorchidism	1/2	OMIM:616001
5792	PTPRF	HP:0000007	Autosomal recessive inheritance	-	OMIM:616001
5792	PTPRF	HP:0007598	Bilateral single transverse palmar creases	1/3	OMIM:616001
5792	PTPRF	HP:0032077	Male urethral meatus stenosis	1/2	OMIM:616001
5792	PTPRF	HP:0000687	Widely spaced teeth	1/3	OMIM:616001
5792	PTPRF	HP:0000385	Small earlobe	1/3	OMIM:616001
5792	PTPRF	HP:0000319	Smooth philtrum	2/3	OMIM:616001
5792	PTPRF	HP:0000463	Anteverted nares	2/3	OMIM:616001
5792	PTPRF	HP:0000455	Broad nasal tip	2/3	OMIM:616001
5795	PTPRJ	HP:0000007	Autosomal recessive inheritance	-	OMIM:620484
5795	PTPRJ	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
5795	PTPRJ	HP:0000132	Menorrhagia	1/1	OMIM:620484
5795	PTPRJ	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
5795	PTPRJ	HP:0003577	Congenital onset	2/2	OMIM:620484
5795	PTPRJ	HP:0005537	Decreased mean platelet volume	2/2	OMIM:620484
5795	PTPRJ	HP:0005584	Renal cell carcinoma	-	OMIM:114500
5795	PTPRJ	HP:0004406	Spontaneous, recurrent epistaxis	1/2	OMIM:620484
5795	PTPRJ	HP:0000978	Bruising susceptibility	1/2	OMIM:620484
5795	PTPRJ	HP:0000967	Petechiae	1/2	OMIM:620484
5795	PTPRJ	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
5795	PTPRJ	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
5795	PTPRJ	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
5795	PTPRJ	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
5795	PTPRJ	HP:0001892	Abnormal bleeding	2/2	OMIM:620484
5795	PTPRJ	HP:0001873	Thrombocytopenia	2/2	OMIM:620484
5800	PTPRO	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
5800	PTPRO	HP:0003774	Stage 5 chronic kidney disease	1/5	OMIM:614196
5800	PTPRO	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
5800	PTPRO	HP:0000097	Focal segmental glomerulosclerosis	1/2	OMIM:614196
5800	PTPRO	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
5800	PTPRO	HP:0000093	Proteinuria	5/5	OMIM:614196
5800	PTPRO	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
5800	PTPRO	HP:0000007	Autosomal recessive inheritance	-	OMIM:614196
5800	PTPRO	HP:0000100	Nephrotic syndrome	5/5	OMIM:614196
5800	PTPRO	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
5800	PTPRO	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
5800	PTPRO	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
5800	PTPRO	HP:0002315	Headache	HP:0040283	ORPHA:656
5800	PTPRO	HP:0003621	Juvenile onset	5/5	OMIM:614196
5800	PTPRO	HP:0005576	Tubulointerstitial fibrosis	1/2	OMIM:614196
5800	PTPRO	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
5800	PTPRO	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
5800	PTPRO	HP:0001945	Fever	HP:0040283	ORPHA:656
5800	PTPRO	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
5800	PTPRO	HP:0003073	Hypoalbuminemia	5/5	OMIM:614196
5800	PTPRO	HP:0000737	Irritability	HP:0040283	ORPHA:656
5800	PTPRO	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
5800	PTPRO	HP:0000969	Edema	HP:0040281	ORPHA:656
5800	PTPRO	HP:0000969	Edema	5/5	OMIM:614196
5800	PTPRO	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
5800	PTPRO	HP:0012579	Minimal change glomerulonephritis	1/2	OMIM:614196
5800	PTPRO	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
5805	PTS	HP:0002487	Hyperkinetic movements	HP:0040283	ORPHA:13
5805	PTS	HP:0003785	Decreased CSF homovanillic acid concentration	1/2	OMIM:261640
5805	PTS	HP:0003781	Excessive salivation	HP:0040283	ORPHA:13
5805	PTS	HP:0003781	Excessive salivation	-	OMIM:261640
5805	PTS	HP:0002421	Poor head control	HP:0040283	ORPHA:13
5805	PTS	HP:0001276	Hypertonia	HP:0040283	ORPHA:13
5805	PTS	HP:0001276	Hypertonia	-	OMIM:261640
5805	PTS	HP:0001270	Motor delay	HP:0040283	ORPHA:13
5805	PTS	HP:0001250	Seizure	HP:0040283	ORPHA:13
5805	PTS	HP:0001250	Seizure	-	OMIM:261640
5805	PTS	HP:0001252	Hypotonia	HP:0040282	ORPHA:13
5805	PTS	HP:0001251	Ataxia	HP:0040283	ORPHA:13
5805	PTS	HP:0001251	Ataxia	-	OMIM:261640
5805	PTS	HP:0001249	Intellectual disability	HP:0040283	ORPHA:13
5805	PTS	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:13
5805	PTS	HP:0001266	Choreoathetosis	-	OMIM:261640
5805	PTS	HP:0001263	Global developmental delay	HP:0040283	ORPHA:13
5805	PTS	HP:0001263	Global developmental delay	11/12	OMIM:261640
5805	PTS	HP:0001262	Excessive daytime somnolence	-	OMIM:261640
5805	PTS	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:13
5805	PTS	HP:0002527	Falls	HP:0040283	ORPHA:13
5805	PTS	HP:0002509	Limb hypertonia	1/2	OMIM:261640
5805	PTS	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:13
5805	PTS	HP:0001347	Hyperreflexia	-	OMIM:261640
5805	PTS	HP:0001332	Dystonia	HP:0040283	ORPHA:13
5805	PTS	HP:0001332	Dystonia	-	OMIM:261640
5805	PTS	HP:0000007	Autosomal recessive inheritance	-	OMIM:261640
5805	PTS	HP:0001337	Tremor	-	OMIM:261640
5805	PTS	HP:0001336	Myoclonus	HP:0040283	ORPHA:13
5805	PTS	HP:0001300	Parkinsonism	-	OMIM:261640
5805	PTS	HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration	1/2	OMIM:261640
5805	PTS	HP:0008936	Axial hypotonia	-	OMIM:261640
5805	PTS	HP:0002033	Poor suck	-	OMIM:261640
5805	PTS	HP:0002015	Dysphagia	HP:0040283	ORPHA:13
5805	PTS	HP:0002015	Dysphagia	-	OMIM:261640
5805	PTS	HP:0002067	Bradykinesia	HP:0040283	ORPHA:13
5805	PTS	HP:0002067	Bradykinesia	-	OMIM:261640
5805	PTS	HP:0002063	Rigidity	HP:0040283	ORPHA:13
5805	PTS	HP:0002063	Rigidity	-	OMIM:261640
5805	PTS	HP:0002072	Chorea	HP:0040283	ORPHA:13
5805	PTS	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:13
5805	PTS	HP:0002169	Clonus	HP:0040283	ORPHA:13
5805	PTS	HP:0002179	Opisthotonus	HP:0040282	ORPHA:13
5805	PTS	HP:0010553	Oculogyric crisis	HP:0040283	ORPHA:13
5805	PTS	HP:0003593	Infantile onset	-	OMIM:261640
5805	PTS	HP:0011968	Feeding difficulties	1/2	OMIM:261640
5805	PTS	HP:0002344	Progressive neurologic deterioration	-	OMIM:261640
5805	PTS	HP:0002329	Drowsiness	HP:0040283	ORPHA:13
5805	PTS	HP:0003623	Neonatal onset	2/2	OMIM:261640
5805	PTS	HP:0004923	Hyperphenylalaninemia	2/2	OMIM:261640
5805	PTS	HP:0006887	Intellectual disability, progressive	-	OMIM:261640
5805	PTS	HP:0001954	Recurrent fever	-	OMIM:261640
5805	PTS	HP:0000737	Irritability	-	OMIM:261640
5805	PTS	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:13
5805	PTS	HP:0000716	Depression	HP:0040283	ORPHA:13
5805	PTS	HP:0000711	Restlessness	HP:0040283	ORPHA:13
5805	PTS	HP:0000713	Agitation	HP:0040283	ORPHA:13
5805	PTS	HP:0000980	Pallor	HP:0040283	ORPHA:13
5805	PTS	HP:0000252	Microcephaly	-	OMIM:261640
5805	PTS	HP:0001518	Small for gestational age	1/2	OMIM:261640
5805	PTS	HP:0000508	Ptosis	HP:0040283	ORPHA:13
5813	PURA	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040283	ORPHA:314655
5813	PURA	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:314655
5813	PURA	HP:0001270	Motor delay	HP:0040282	ORPHA:314655
5813	PURA	HP:0001250	Seizure	HP:0040281	ORPHA:438216
5813	PURA	HP:0001250	Seizure	9/11	OMIM:616158
5813	PURA	HP:0001250	Seizure	HP:0040283	ORPHA:314655
5813	PURA	HP:0001252	Hypotonia	11/11	OMIM:616158
5813	PURA	HP:0001251	Ataxia	HP:0040283	ORPHA:438216
5813	PURA	HP:0001249	Intellectual disability	-	OMIM:616158
5813	PURA	HP:0001263	Global developmental delay	HP:0040281	ORPHA:438216
5813	PURA	HP:0001263	Global developmental delay	11/11	OMIM:616158
5813	PURA	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:314655
5813	PURA	HP:0002540	Inability to walk	1/8	OMIM:616158
5813	PURA	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:438216
5813	PURA	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:314655
5813	PURA	HP:0001332	Dystonia	HP:0040283	ORPHA:438216
5813	PURA	HP:0001344	Absent speech	8/8	OMIM:616158
5813	PURA	HP:0000006	Autosomal dominant inheritance	-	OMIM:616158
5813	PURA	HP:0001336	Myoclonus	-	OMIM:616158
5813	PURA	HP:0001336	Myoclonus	HP:0040283	ORPHA:314655
5813	PURA	HP:0001319	Neonatal hypotonia	-	OMIM:616158
5813	PURA	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:314655
5813	PURA	HP:0000194	Open mouth	-	OMIM:616158
5813	PURA	HP:0002791	Hypoventilation	HP:0040283	ORPHA:314655
5813	PURA	HP:0002002	Deep philtrum	HP:0040282	ORPHA:314655
5813	PURA	HP:0002007	Frontal bossing	HP:0040283	ORPHA:438216
5813	PURA	HP:0002098	Respiratory distress	HP:0040281	ORPHA:438216
5813	PURA	HP:0002098	Respiratory distress	HP:0040282	ORPHA:314655
5813	PURA	HP:0002093	Respiratory insufficiency	10/10	OMIM:616158
5813	PURA	HP:0002058	Myopathic facies	HP:0040282	ORPHA:438216
5813	PURA	HP:0002058	Myopathic facies	6/11	OMIM:616158
5813	PURA	HP:0010442	Polydactyly	HP:0040283	ORPHA:314655
5813	PURA	HP:0002136	Broad-based gait	HP:0040283	ORPHA:438216
5813	PURA	HP:0002136	Broad-based gait	HP:0040283	OMIM:616158
5813	PURA	HP:0003429	CNS hypomyelination	4/11	OMIM:616158
5813	PURA	HP:0002104	Apnea	HP:0040283	ORPHA:314655
5813	PURA	HP:0002188	Delayed CNS myelination	4/11	OMIM:616158
5813	PURA	HP:0002267	Exaggerated startle response	HP:0040283	ORPHA:438216
5813	PURA	HP:0003593	Infantile onset	2/7	OMIM:616158
5813	PURA	HP:0011968	Feeding difficulties	11/11	OMIM:616158
5813	PURA	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:314655
5813	PURA	HP:0002353	EEG abnormality	HP:0040282	ORPHA:314655
5813	PURA	HP:0100660	Dyskinesia	HP:0040283	ORPHA:438216
5813	PURA	HP:0010804	Tented upper lip vermilion	HP:0040283	ORPHA:438216
5813	PURA	HP:0010804	Tented upper lip vermilion	1/11	OMIM:616158
5813	PURA	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:314655
5813	PURA	HP:0003623	Neonatal onset	3/7	OMIM:616158
5813	PURA	HP:0006829	Severe muscular hypotonia	HP:0040283	ORPHA:438216
5813	PURA	HP:0006829	Severe muscular hypotonia	HP:0040283	ORPHA:314655
5813	PURA	HP:0000639	Nystagmus	4/11	OMIM:616158
5813	PURA	HP:0000637	Long palpebral fissure	HP:0040283	ORPHA:438216
5813	PURA	HP:0000637	Long palpebral fissure	1/11	OMIM:616158
5813	PURA	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:438216
5813	PURA	HP:0000739	Anxiety	HP:0040283	ORPHA:438216
5813	PURA	HP:0000736	Short attention span	HP:0040283	ORPHA:438216
5813	PURA	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:314655
5813	PURA	HP:0011463	Childhood onset	2/7	OMIM:616158
5813	PURA	HP:0003196	Short nose	HP:0040283	ORPHA:314655
5813	PURA	HP:0012899	Handgrip myotonia	HP:0040283	ORPHA:438216
5813	PURA	HP:0000286	Epicanthus	HP:0040283	ORPHA:438216
5813	PURA	HP:0000297	Facial hypotonia	HP:0040283	ORPHA:438216
5813	PURA	HP:0000293	Full cheeks	HP:0040283	ORPHA:438216
5813	PURA	HP:0000276	Long face	HP:0040283	ORPHA:438216
5813	PURA	HP:0000252	Microcephaly	HP:0040283	ORPHA:438216
5813	PURA	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:438216
5813	PURA	HP:0000218	High palate	HP:0040283	ORPHA:438216
5813	PURA	HP:0000218	High palate	3/11	OMIM:616158
5813	PURA	HP:0000218	High palate	HP:0040282	ORPHA:314655
5813	PURA	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:314655
5813	PURA	HP:0011098	Speech apraxia	HP:0040283	ORPHA:314655
5813	PURA	HP:0011081	Incisor macrodontia	HP:0040283	ORPHA:438216
5813	PURA	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:438216
5813	PURA	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:314655
5813	PURA	HP:0006481	Abnormality of primary teeth	HP:0040283	ORPHA:438216
5813	PURA	HP:0000369	Low-set ears	HP:0040283	ORPHA:314655
5813	PURA	HP:0000341	Narrow forehead	HP:0040282	ORPHA:314655
5813	PURA	HP:0000348	High forehead	HP:0040283	ORPHA:438216
5813	PURA	HP:0000347	Micrognathia	HP:0040282	ORPHA:314655
5813	PURA	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:438216
5813	PURA	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:314655
5813	PURA	HP:0011167	Focal tonic seizure	HP:0040283	ORPHA:314655
5813	PURA	HP:0005338	Sparse lateral eyebrow	HP:0040282	ORPHA:314655
5813	PURA	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:314655
5813	PURA	HP:0000486	Strabismus	3/11	OMIM:616158
5813	PURA	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:314655
5813	PURA	HP:0000463	Anteverted nares	HP:0040283	ORPHA:438216
5813	PURA	HP:0000463	Anteverted nares	1/11	OMIM:616158
5813	PURA	HP:0000463	Anteverted nares	HP:0040283	ORPHA:314655
5813	PURA	HP:0012448	Delayed myelination	HP:0040282	ORPHA:314655
5813	PURA	HP:0012444	Brain atrophy	HP:0040282	ORPHA:314655
5813	PURA	HP:0000455	Broad nasal tip	HP:0040283	ORPHA:438216
5813	PURA	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:438216
5813	PURA	HP:0000431	Wide nasal bridge	1/11	OMIM:616158
5813	PURA	HP:0000430	Underdeveloped nasal alae	HP:0040283	ORPHA:438216
5813	PURA	HP:0000430	Underdeveloped nasal alae	1/11	OMIM:616158
5813	PURA	HP:0005487	Prominent metopic ridge	HP:0040282	ORPHA:314655
5813	PURA	HP:0000506	Telecanthus	HP:0040283	ORPHA:438216
5813	PURA	HP:0000506	Telecanthus	HP:0040283	OMIM:616158
5813	PURA	HP:0000506	Telecanthus	HP:0040282	ORPHA:314655
5813	PURA	HP:0000508	Ptosis	HP:0040282	ORPHA:314655
5813	PURA	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:438216
5813	PURA	HP:0011220	Prominent forehead	HP:0040283	ORPHA:438216
5813	PURA	HP:0011220	Prominent forehead	-	OMIM:616158
5813	PURA	HP:0000565	Esotropia	1/11	OMIM:616158
5813	PURA	HP:0000545	Myopia	HP:0040283	ORPHA:438216
5818	NECTIN1	HP:0003777	Pili torti	1/1	OMIM:225060
5818	NECTIN1	HP:0003777	Pili torti	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0001250	Seizure	HP:0040283	ORPHA:3253
5818	NECTIN1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:3253
5818	NECTIN1	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0000069	Abnormality of the ureter	HP:0040283	ORPHA:3253
5818	NECTIN1	HP:0000046	Small scrotum	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199306
5818	NECTIN1	HP:0410011	Abnormality of masticatory muscle	HP:0040282	ORPHA:141291
5818	NECTIN1	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:3253
5818	NECTIN1	HP:0001328	Specific learning disability	HP:0040284	ORPHA:199302
5818	NECTIN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:225060
5818	NECTIN1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0000175	Cleft palate	HP:0040282	ORPHA:199306
5818	NECTIN1	HP:0000175	Cleft palate	-	OMIM:225060
5818	NECTIN1	HP:0000135	Hypogonadism	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:199306
5818	NECTIN1	HP:0006332	Supernumerary maxillary incisor	HP:0040283	ORPHA:199302
5818	NECTIN1	HP:0410030	Cleft lip	1/1	OMIM:225060
5818	NECTIN1	HP:0006292	Abnormality of dental eruption	HP:0040281	ORPHA:199306
5818	NECTIN1	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:141291
5818	NECTIN1	HP:0002033	Poor suck	HP:0040282	ORPHA:199306
5818	NECTIN1	HP:0002015	Dysphagia	HP:0040283	ORPHA:141291
5818	NECTIN1	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:3253
5818	NECTIN1	HP:0011800	Midface retrusion	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0002164	Nail dysplasia	-	OMIM:225060
5818	NECTIN1	HP:0010554	Cutaneous finger syndactyly	-	OMIM:225060
5818	NECTIN1	HP:0003577	Congenital onset	-	OMIM:225060
5818	NECTIN1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0200153	Agenesis of lateral incisor	HP:0040283	ORPHA:199306
5818	NECTIN1	HP:0010709	2-4 finger cutaneous syndactyly	1/1	OMIM:225060
5818	NECTIN1	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:199306
5818	NECTIN1	HP:0002299	Brittle hair	-	OMIM:225060
5818	NECTIN1	HP:0002296	Progressive hypotrichosis	-	OMIM:225060
5818	NECTIN1	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0010621	Cutaneous syndactyly of toes	-	OMIM:225060
5818	NECTIN1	HP:0008391	Dystrophic fingernails	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0001047	Atopic dermatitis	1/1	OMIM:225060
5818	NECTIN1	HP:0002353	EEG abnormality	HP:0040283	ORPHA:3253
5818	NECTIN1	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:141291
5818	NECTIN1	HP:0009088	Speech articulation difficulties	HP:0040283	ORPHA:199302
5818	NECTIN1	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:199306
5818	NECTIN1	HP:0011359	Dry hair	1/1	OMIM:225060
5818	NECTIN1	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:3253
5818	NECTIN1	HP:0000674	Anodontia	-	OMIM:225060
5818	NECTIN1	HP:0000674	Anodontia	HP:0040283	ORPHA:3253
5818	NECTIN1	HP:0000691	Microdontia	-	OMIM:225060
5818	NECTIN1	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:199306
5818	NECTIN1	HP:0000653	Sparse eyelashes	-	OMIM:225060
5818	NECTIN1	HP:0000670	Carious teeth	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0000668	Hypodontia	HP:0040283	ORPHA:141291
5818	NECTIN1	HP:0000668	Hypodontia	HP:0040284	ORPHA:199302
5818	NECTIN1	HP:0000668	Hypodontia	HP:0040283	ORPHA:3253
5818	NECTIN1	HP:0000668	Hypodontia	1/1	OMIM:225060
5818	NECTIN1	HP:0000664	Synophrys	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0004395	Malnutrition	HP:0040283	ORPHA:199306
5818	NECTIN1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:199306
5818	NECTIN1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:199302
5818	NECTIN1	HP:0011438	Maternal teratogenic exposure	HP:0040283	ORPHA:199302
5818	NECTIN1	HP:0040115	Abnormal Eustachian tube morphology	HP:0040283	ORPHA:199302
5818	NECTIN1	HP:0100336	Bilateral cleft lip	HP:0040283	ORPHA:199302
5818	NECTIN1	HP:0100337	Bilateral cleft palate	HP:0040283	ORPHA:199306
5818	NECTIN1	HP:0100337	Bilateral cleft palate	HP:0040281	ORPHA:3253
5818	NECTIN1	HP:0100334	Unilateral cleft palate	HP:0040282	ORPHA:199306
5818	NECTIN1	HP:0100335	Non-midline cleft of the upper lip	HP:0040282	ORPHA:199302
5818	NECTIN1	HP:0010294	Palate fistula	HP:0040283	ORPHA:199306
5818	NECTIN1	HP:0045075	Sparse eyebrow	-	OMIM:225060
5818	NECTIN1	HP:0100267	Lip pit	HP:0040281	ORPHA:141291
5818	NECTIN1	HP:0000975	Hyperhidrosis	0/1	OMIM:225060
5818	NECTIN1	HP:0000972	Palmoplantar hyperkeratosis	HP:0040283	ORPHA:3253
5818	NECTIN1	HP:0000972	Palmoplantar hyperkeratosis	1/1	OMIM:225060
5818	NECTIN1	HP:0000968	Ectodermal dysplasia	1/1	OMIM:225060
5818	NECTIN1	HP:0000968	Ectodermal dysplasia	HP:0040281	ORPHA:3253
5818	NECTIN1	HP:0000966	Hypohidrosis	HP:0040283	ORPHA:3253
5818	NECTIN1	HP:0008070	Sparse hair	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0000288	Abnormality of the philtrum	-	OMIM:225060
5818	NECTIN1	HP:0001596	Alopecia	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:141291
5818	NECTIN1	HP:0000272	Malar flattening	-	OMIM:225060
5818	NECTIN1	HP:0005105	Abnormal nasal morphology	HP:0040282	ORPHA:141291
5818	NECTIN1	HP:0001572	Macrodontia	HP:0040283	ORPHA:199302
5818	NECTIN1	HP:0000220	Velopharyngeal insufficiency	HP:0040283	ORPHA:199302
5818	NECTIN1	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:199306
5818	NECTIN1	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:199302
5818	NECTIN1	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:199302
5818	NECTIN1	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:199306
5818	NECTIN1	HP:0000204	Cleft upper lip	HP:0040281	ORPHA:3253
5818	NECTIN1	HP:0000204	Cleft upper lip	-	OMIM:225060
5818	NECTIN1	HP:0001518	Small for gestational age	HP:0040283	ORPHA:199302
5818	NECTIN1	HP:0011044	Abnormal number of permanent teeth	HP:0040283	ORPHA:199306
5818	NECTIN1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:199302
5818	NECTIN1	HP:0005216	Impaired mastication	HP:0040282	ORPHA:141291
5818	NECTIN1	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:141291
5818	NECTIN1	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:199306
5818	NECTIN1	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0001696	Situs inversus totalis	HP:0040284	ORPHA:199302
5818	NECTIN1	HP:0000369	Low-set ears	1/1	OMIM:225060
5818	NECTIN1	HP:0000347	Micrognathia	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0000347	Micrognathia	1/1	OMIM:225060
5818	NECTIN1	HP:0031469	Low self-esteem	HP:0040283	ORPHA:199302
5818	NECTIN1	HP:0000327	Hypoplasia of the maxilla	HP:0040284	ORPHA:199306
5818	NECTIN1	HP:0000325	Triangular face	-	OMIM:225060
5818	NECTIN1	HP:0006610	Wide intermamillary distance	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0005338	Sparse lateral eyebrow	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0005324	Disturbance of facial expression	HP:0040282	ORPHA:141291
5818	NECTIN1	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:199306
5818	NECTIN1	HP:0000405	Conductive hearing impairment	HP:0040284	ORPHA:199302
5818	NECTIN1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:199306
5818	NECTIN1	HP:0000400	Macrotia	HP:0040281	ORPHA:3253
5818	NECTIN1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:3253
5818	NECTIN1	HP:0000419	Abnormal nasal septum morphology	HP:0040283	ORPHA:141291
5818	NECTIN1	HP:0000411	Protruding ear	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0000411	Protruding ear	1/1	OMIM:225060
5818	NECTIN1	HP:0001762	Talipes equinovarus	HP:0040284	ORPHA:199302
5818	NECTIN1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:3253
5818	NECTIN1	HP:0001810	Dystrophic toenail	HP:0040282	ORPHA:3253
5824	PEX19	HP:0001133	Constriction of peripheral visual field	HP:0040281	ORPHA:772
5824	PEX19	HP:0007305	CNS demyelination	-	OMIM:614886
5824	PEX19	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:912
5824	PEX19	HP:0100806	Sepsis	1/1	OMIM:614886
5824	PEX19	HP:0001250	Seizure	HP:0040283	ORPHA:772
5824	PEX19	HP:0001250	Seizure	HP:0040281	ORPHA:44
5824	PEX19	HP:0001250	Seizure	1/1	OMIM:614886
5824	PEX19	HP:0001250	Seizure	HP:0040282	ORPHA:912
5824	PEX19	HP:0001252	Hypotonia	HP:0040282	ORPHA:772
5824	PEX19	HP:0001252	Hypotonia	HP:0040281	ORPHA:44
5824	PEX19	HP:0001252	Hypotonia	1/1	OMIM:614886
5824	PEX19	HP:0001251	Ataxia	HP:0040282	ORPHA:772
5824	PEX19	HP:0001263	Global developmental delay	HP:0040281	ORPHA:772
5824	PEX19	HP:0001263	Global developmental delay	1/1	OMIM:614886
5824	PEX19	HP:0001257	Spasticity	HP:0040282	ORPHA:772
5824	PEX19	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:912
5824	PEX19	HP:0001399	Hepatic failure	1/1	OMIM:614886
5824	PEX19	HP:0001399	Hepatic failure	HP:0040281	ORPHA:912
5824	PEX19	HP:0001392	Abnormality of the liver	HP:0040281	ORPHA:44
5824	PEX19	HP:0000047	Hypospadias	HP:0040282	ORPHA:912
5824	PEX19	HP:0001348	Brisk reflexes	1/1	OMIM:614886
5824	PEX19	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:44
5824	PEX19	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:912
5824	PEX19	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:912
5824	PEX19	HP:0000007	Autosomal recessive inheritance	-	OMIM:614886
5824	PEX19	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:912
5824	PEX19	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:912
5824	PEX19	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:912
5824	PEX19	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:912
5824	PEX19	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:44
5824	PEX19	HP:0001476	Delayed closure of the anterior fontanelle	-	OMIM:614886
5824	PEX19	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:44
5824	PEX19	HP:0000124	Renal tubular dysfunction	-	OMIM:614886
5824	PEX19	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:912
5824	PEX19	HP:0002024	Malabsorption	HP:0040282	ORPHA:912
5824	PEX19	HP:0002021	Pyloric stenosis	HP:0040282	ORPHA:912
5824	PEX19	HP:0002033	Poor suck	1/1	OMIM:614886
5824	PEX19	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:772
5824	PEX19	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:912
5824	PEX19	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:912
5824	PEX19	HP:0002059	Cerebral atrophy	1/1	OMIM:614886
5824	PEX19	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:772
5824	PEX19	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:772
5824	PEX19	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:912
5824	PEX19	HP:0010461	Abnormality of the male genitalia	-	OMIM:614886
5824	PEX19	HP:0003455	Elevated circulating long chain fatty acid concentration	1/1	OMIM:614886
5824	PEX19	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:912
5824	PEX19	HP:0010571	Elevated circulating phytanic acid concentration	HP:0040281	ORPHA:772
5824	PEX19	HP:0009553	Abnormality of the hairline	-	OMIM:614886
5824	PEX19	HP:0008207	Primary adrenal insufficiency	HP:0040281	ORPHA:44
5824	PEX19	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:912
5824	PEX19	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:44
5824	PEX19	HP:0003577	Congenital onset	1/1	OMIM:614886
5824	PEX19	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:772
5824	PEX19	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:912
5824	PEX19	HP:0010655	Epiphyseal stippling	HP:0040281	ORPHA:912
5824	PEX19	HP:0010628	Facial palsy	HP:0040283	ORPHA:772
5824	PEX19	HP:0002376	Developmental regression	HP:0040281	ORPHA:44
5824	PEX19	HP:0002353	EEG abnormality	HP:0040281	ORPHA:44
5824	PEX19	HP:0002353	EEG abnormality	HP:0040281	ORPHA:912
5824	PEX19	HP:0001088	Brushfield spots	HP:0040283	ORPHA:912
5824	PEX19	HP:0001081	Cholelithiasis	-	OMIM:614886
5824	PEX19	HP:0010759	Prominence of the premaxilla	1/1	OMIM:614886
5824	PEX19	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:912
5824	PEX19	HP:0000639	Nystagmus	HP:0040282	ORPHA:772
5824	PEX19	HP:0000639	Nystagmus	HP:0040281	ORPHA:44
5824	PEX19	HP:0000639	Nystagmus	HP:0040282	ORPHA:912
5824	PEX19	HP:0000648	Optic atrophy	HP:0040283	ORPHA:772
5824	PEX19	HP:0000648	Optic atrophy	HP:0040281	ORPHA:44
5824	PEX19	HP:0000648	Optic atrophy	HP:0040282	ORPHA:912
5824	PEX19	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:912
5824	PEX19	HP:0000629	Periorbital fullness	1/1	OMIM:614886
5824	PEX19	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:912
5824	PEX19	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:44
5824	PEX19	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:44
5824	PEX19	HP:0000662	Nyctalopia	HP:0040281	ORPHA:772
5824	PEX19	HP:0004325	Decreased body weight	-	OMIM:614886
5824	PEX19	HP:0004322	Short stature	HP:0040281	ORPHA:772
5824	PEX19	HP:0004322	Short stature	HP:0040281	ORPHA:44
5824	PEX19	HP:0004322	Short stature	-	OMIM:614886
5824	PEX19	HP:0004322	Short stature	HP:0040281	ORPHA:912
5824	PEX19	HP:0012736	Profound global developmental delay	HP:0040281	ORPHA:912
5824	PEX19	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:44
5824	PEX19	HP:0000708	Atypical behavior	HP:0040282	ORPHA:772
5824	PEX19	HP:0003103	Abnormal cortical bone morphology	-	OMIM:614886
5824	PEX19	HP:0030799	Scaphocephaly	-	OMIM:614886
5824	PEX19	HP:0000952	Jaundice	HP:0040281	ORPHA:912
5824	PEX19	HP:0008064	Ichthyosis	HP:0040283	ORPHA:772
5824	PEX19	HP:0011675	Arrhythmia	HP:0040283	ORPHA:772
5824	PEX19	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:44
5824	PEX19	HP:0000286	Epicanthus	1/1	OMIM:614886
5824	PEX19	HP:0000286	Epicanthus	HP:0040281	ORPHA:912
5824	PEX19	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:44
5824	PEX19	HP:0000260	Wide anterior fontanel	1/1	OMIM:614886
5824	PEX19	HP:0000260	Wide anterior fontanel	HP:0040281	ORPHA:912
5824	PEX19	HP:0000256	Macrocephaly	HP:0040282	ORPHA:44
5824	PEX19	HP:0000256	Macrocephaly	HP:0040282	ORPHA:912
5824	PEX19	HP:0000271	Abnormality of the face	HP:0040283	ORPHA:772
5824	PEX19	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:44
5824	PEX19	HP:0000267	Cranial asymmetry	1/1	OMIM:614886
5824	PEX19	HP:0000238	Hydrocephalus	-	OMIM:614886
5824	PEX19	HP:0000252	Microcephaly	-	OMIM:614886
5824	PEX19	HP:0000252	Microcephaly	HP:0040282	ORPHA:912
5824	PEX19	HP:0000218	High palate	HP:0040282	ORPHA:912
5824	PEX19	HP:0001558	Decreased fetal movement	1/1	OMIM:614886
5824	PEX19	HP:0001522	Death in infancy	HP:0040281	ORPHA:912
5824	PEX19	HP:0001508	Failure to thrive	HP:0040281	ORPHA:772
5824	PEX19	HP:0001508	Failure to thrive	HP:0040281	ORPHA:912
5824	PEX19	HP:0001510	Growth delay	-	OMIM:614886
5824	PEX19	HP:0012368	Flat face	HP:0040281	ORPHA:912
5824	PEX19	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:912
5824	PEX19	HP:0001612	Weak cry	1/1	OMIM:614886
5824	PEX19	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:614886
5824	PEX19	HP:0002904	Hyperbilirubinemia	1/1	OMIM:614886
5824	PEX19	HP:0000365	Hearing impairment	HP:0040282	ORPHA:772
5824	PEX19	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:44
5824	PEX19	HP:0000348	High forehead	HP:0040281	ORPHA:44
5824	PEX19	HP:0000348	High forehead	HP:0040281	ORPHA:912
5824	PEX19	HP:0000347	Micrognathia	HP:0040282	ORPHA:912
5824	PEX19	HP:0001643	Patent ductus arteriosus	1/1	OMIM:614886
5824	PEX19	HP:0000325	Triangular face	1/1	OMIM:614886
5824	PEX19	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:912
5824	PEX19	HP:0001622	Premature birth	HP:0040282	ORPHA:912
5824	PEX19	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:772
5824	PEX19	HP:0001631	Atrial septal defect	1/1	OMIM:614886
5824	PEX19	HP:0007957	Corneal opacity	HP:0040281	ORPHA:912
5824	PEX19	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:772
5824	PEX19	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:44
5824	PEX19	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:912
5824	PEX19	HP:0001719	Double outlet right ventricle	-	OMIM:614886
5824	PEX19	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:912
5824	PEX19	HP:0000486	Strabismus	HP:0040281	ORPHA:44
5824	PEX19	HP:0000463	Anteverted nares	HP:0040281	ORPHA:44
5824	PEX19	HP:0000474	Thickened nuchal skin fold	HP:0040283	ORPHA:912
5824	PEX19	HP:0000448	Prominent nose	1/1	OMIM:614886
5824	PEX19	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:44
5824	PEX19	HP:0000431	Wide nasal bridge	1/1	OMIM:614886
5824	PEX19	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:912
5824	PEX19	HP:0005469	Flat occiput	HP:0040282	ORPHA:912
5824	PEX19	HP:0000518	Cataract	HP:0040283	ORPHA:772
5824	PEX19	HP:0000518	Cataract	HP:0040282	ORPHA:44
5824	PEX19	HP:0000518	Cataract	HP:0040282	ORPHA:912
5824	PEX19	HP:0000510	Rod-cone dystrophy	HP:0040281	ORPHA:772
5824	PEX19	HP:0000508	Ptosis	HP:0040282	ORPHA:44
5824	PEX19	HP:0000505	Visual impairment	HP:0040281	ORPHA:772
5824	PEX19	HP:0000505	Visual impairment	HP:0040282	ORPHA:44
5824	PEX19	HP:0000505	Visual impairment	HP:0040282	ORPHA:912
5824	PEX19	HP:0000501	Glaucoma	HP:0040283	ORPHA:912
5824	PEX19	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:912
5824	PEX19	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:912
5825	ABCD3	HP:0025196	Increased total iron binding capacity	1/1	OMIM:616278
5825	ABCD3	HP:0001288	Gait disturbance	HP:0040283	ORPHA:98897
5825	ABCD3	HP:0001284	Areflexia	HP:0040283	ORPHA:98897
5825	ABCD3	HP:0008756	Bowing of the vocal cords	HP:0040282	ORPHA:98897
5825	ABCD3	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:98897
5825	ABCD3	HP:0001399	Hepatic failure	1/1	OMIM:616278
5825	ABCD3	HP:0001395	Hepatic fibrosis	1/1	OMIM:616278
5825	ABCD3	HP:0031162	Impaired oropharyngeal swallow response	HP:0040282	ORPHA:98897
5825	ABCD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:616278
5825	ABCD3	HP:0000183	Tongue muscle weakness	HP:0040282	ORPHA:98897
5825	ABCD3	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040284	ORPHA:98897
5825	ABCD3	HP:0008959	Distal upper limb muscle weakness	HP:0040283	ORPHA:98897
5825	ABCD3	HP:0008963	Tibialis muscle weakness	HP:0040283	ORPHA:98897
5825	ABCD3	HP:0008944	Distal lower limb amyotrophy	HP:0040282	ORPHA:98897
5825	ABCD3	HP:0002705	High, narrow palate	HP:0040282	ORPHA:98897
5825	ABCD3	HP:0001409	Portal hypertension	1/1	OMIM:616278
5825	ABCD3	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:98897
5825	ABCD3	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:98897
5825	ABCD3	HP:0002058	Myopathic facies	HP:0040282	ORPHA:98897
5825	ABCD3	HP:0002100	Recurrent aspiration pneumonia	HP:0040282	ORPHA:98897
5825	ABCD3	HP:0010550	Paraplegia	HP:0040284	ORPHA:98897
5825	ABCD3	HP:0003593	Infantile onset	1/1	OMIM:616278
5825	ABCD3	HP:0002240	Hepatomegaly	1/1	OMIM:616278
5825	ABCD3	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:98897
5825	ABCD3	HP:0008376	Nasal dysarthria	HP:0040281	ORPHA:98897
5825	ABCD3	HP:0430015	Abnormal morphology of musculature of pharynx	HP:0040282	ORPHA:98897
5825	ABCD3	HP:0003676	Progressive	1/1	OMIM:616278
5825	ABCD3	HP:0003645	Prolonged partial thromboplastin time	1/1	OMIM:616278
5825	ABCD3	HP:0007149	Distal upper limb amyotrophy	HP:0040282	ORPHA:98897
5825	ABCD3	HP:0009073	Progressive proximal muscle weakness	HP:0040283	ORPHA:98897
5825	ABCD3	HP:0009063	Progressive distal muscle weakness	HP:0040282	ORPHA:98897
5825	ABCD3	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:98897
5825	ABCD3	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:98897
5825	ABCD3	HP:0000952	Jaundice	1/1	OMIM:616278
5825	ABCD3	HP:0012202	Increased serum bile acid concentration	1/1	OMIM:616278
5825	ABCD3	HP:0000218	High palate	HP:0040282	ORPHA:98897
5825	ABCD3	HP:0007838	Progressive ptosis	HP:0040281	ORPHA:98897
5825	ABCD3	HP:0006580	Portal fibrosis	1/1	OMIM:616278
5825	ABCD3	HP:0001604	Vocal cord paresis	HP:0040282	ORPHA:98897
5825	ABCD3	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040283	ORPHA:98897
5825	ABCD3	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:616278
5825	ABCD3	HP:0002904	Hyperbilirubinemia	1/1	OMIM:616278
5825	ABCD3	HP:0000301	Abnormality of facial musculature	HP:0040281	ORPHA:98897
5825	ABCD3	HP:0030319	Weakness of facial musculature	HP:0040281	ORPHA:98897
5825	ABCD3	HP:3000010	Abnormality of orbicularis oris muscle	HP:0040284	ORPHA:98897
5825	ABCD3	HP:0000408	Progressive sensorineural hearing impairment	HP:0040283	ORPHA:98897
5825	ABCD3	HP:3000005	Abnormality of masseter muscle	HP:0040283	ORPHA:98897
5825	ABCD3	HP:0001744	Splenomegaly	1/1	OMIM:616278
5825	ABCD3	HP:0001824	Weight loss	HP:0040281	ORPHA:98897
5825	ABCD3	HP:0000597	Ophthalmoparesis	HP:0040281	ORPHA:98897
5825	ABCD3	HP:0000590	Progressive external ophthalmoplegia	HP:0040281	ORPHA:98897
5825	ABCD3	HP:0001891	Iron deficiency anemia	1/1	OMIM:616278
5826	ABCD4	HP:0025116	Fetal distress	1/3	OMIM:614857
5826	ABCD4	HP:0001254	Lethargy	1/2	OMIM:614857
5826	ABCD4	HP:0001252	Hypotonia	2/2	OMIM:614857
5826	ABCD4	HP:0001263	Global developmental delay	2/2	OMIM:614857
5826	ABCD4	HP:0002533	Abnormal posturing	-	OMIM:614857
5826	ABCD4	HP:0000023	Inguinal hernia	2/2	OMIM:614857
5826	ABCD4	HP:0000028	Cryptorchidism	1/2	OMIM:614857
5826	ABCD4	HP:0000007	Autosomal recessive inheritance	-	OMIM:614857
5826	ABCD4	HP:0012120	Methylmalonic aciduria	2/2	OMIM:614857
5826	ABCD4	HP:0002789	Tachypnea	-	OMIM:614857
5826	ABCD4	HP:0002750	Delayed skeletal maturation	1/2	OMIM:614857
5826	ABCD4	HP:0002020	Gastroesophageal reflux	1/2	OMIM:614857
5826	ABCD4	HP:0002092	Pulmonary arterial hypertension	1/2	OMIM:614857
5826	ABCD4	HP:0002059	Cerebral atrophy	1/2	OMIM:614857
5826	ABCD4	HP:0002156	Homocystinuria	2/2	OMIM:614857
5826	ABCD4	HP:0002160	Hyperhomocystinemia	2/2	OMIM:614857
5826	ABCD4	HP:0003577	Congenital onset	1/2	OMIM:614857
5826	ABCD4	HP:0003524	Decreased methionine synthase activity	HP:0040283	OMIM:614857
5826	ABCD4	HP:0011968	Feeding difficulties	2/2	OMIM:614857
5826	ABCD4	HP:0003658	Hypomethioninemia	1/2	OMIM:614857
5826	ABCD4	HP:0033443	Elevated circulating propionylcarnitine concentration	1/1	OMIM:614857
5826	ABCD4	HP:0003623	Neonatal onset	1/2	OMIM:614857
5826	ABCD4	HP:0003145	Decreased circulating adenosylcobalamin concentration	-	OMIM:614857
5826	ABCD4	HP:0000888	Horizontal ribs	1/3	OMIM:614857
5826	ABCD4	HP:0003223	Decreased circulating methylcobalamin concentration	HP:0040283	OMIM:614857
5826	ABCD4	HP:0001591	Bell-shaped thorax	1/2	OMIM:614857
5826	ABCD4	HP:0001508	Failure to thrive	2/2	OMIM:614857
5826	ABCD4	HP:0001510	Growth delay	-	OMIM:614857
5826	ABCD4	HP:0002912	Methylmalonic acidemia	1/1	OMIM:614857
5826	ABCD4	HP:0001680	Coarctation of aorta	1/2	OMIM:614857
5826	ABCD4	HP:0000347	Micrognathia	1/2	OMIM:614857
5826	ABCD4	HP:0000316	Hypertelorism	1/2	OMIM:614857
5826	ABCD4	HP:0001643	Patent ductus arteriosus	1/2	OMIM:614857
5826	ABCD4	HP:0001631	Atrial septal defect	1/2	OMIM:614857
5826	ABCD4	HP:0006610	Wide intermamillary distance	1/2	OMIM:614857
5826	ABCD4	HP:0001895	Normochromic anemia	2/2	OMIM:614857
5826	ABCD4	HP:0001873	Thrombocytopenia	1/2	OMIM:614857
5826	ABCD4	HP:0001875	Decreased total neutrophil count	2/2	OMIM:614857
5828	PEX2	HP:0025116	Fetal distress	1/4	OMIM:614866
5828	PEX2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5828	PEX2	HP:0001133	Constriction of peripheral visual field	HP:0040281	ORPHA:772
5828	PEX2	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:912
5828	PEX2	HP:0001290	Generalized hypotonia	-	OMIM:614867
5828	PEX2	HP:0001272	Cerebellar atrophy	1/4	OMIM:614866
5828	PEX2	HP:0001272	Cerebellar atrophy	-	OMIM:614867
5828	PEX2	HP:0001274	Agenesis of corpus callosum	1/4	OMIM:614866
5828	PEX2	HP:0001284	Areflexia	2/4	OMIM:614866
5828	PEX2	HP:0001254	Lethargy	1/4	OMIM:614866
5828	PEX2	HP:0001250	Seizure	HP:0040283	ORPHA:772
5828	PEX2	HP:0001250	Seizure	HP:0040281	ORPHA:44
5828	PEX2	HP:0001250	Seizure	2/4	OMIM:614866
5828	PEX2	HP:0001250	Seizure	HP:0040282	ORPHA:912
5828	PEX2	HP:0001252	Hypotonia	HP:0040282	ORPHA:772
5828	PEX2	HP:0001252	Hypotonia	HP:0040281	ORPHA:44
5828	PEX2	HP:0001252	Hypotonia	3/4	OMIM:614866
5828	PEX2	HP:0001251	Ataxia	HP:0040282	ORPHA:772
5828	PEX2	HP:0001251	Ataxia	-	OMIM:614867
5828	PEX2	HP:0001249	Intellectual disability	-	OMIM:614866
5828	PEX2	HP:0001265	Hyporeflexia	-	OMIM:614867
5828	PEX2	HP:0001260	Dysarthria	-	OMIM:614867
5828	PEX2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:772
5828	PEX2	HP:0001263	Global developmental delay	-	OMIM:614866
5828	PEX2	HP:0001263	Global developmental delay	1/1	OMIM:614867
5828	PEX2	HP:0001257	Spasticity	HP:0040282	ORPHA:772
5828	PEX2	HP:0002557	Hypoplastic nipples	1/4	OMIM:614866
5828	PEX2	HP:0008665	Clitoral hypertrophy	-	OMIM:614866
5828	PEX2	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:912
5828	PEX2	HP:0033643	Increased circulating very long-chain fatty acid concentration	3/4	OMIM:614866
5828	PEX2	HP:0003828	Variable expressivity	-	OMIM:614867
5828	PEX2	HP:0003819	Death in childhood	1/1	OMIM:614867
5828	PEX2	HP:0001396	Cholestasis	1/4	OMIM:614866
5828	PEX2	HP:0001399	Hepatic failure	HP:0040281	ORPHA:912
5828	PEX2	HP:0001392	Abnormality of the liver	HP:0040281	ORPHA:44
5828	PEX2	HP:0012043	Pendular nystagmus	1/4	OMIM:614866
5828	PEX2	HP:0001382	Joint hypermobility	1/1	OMIM:614867
5828	PEX2	HP:0000047	Hypospadias	1/4	OMIM:614866
5828	PEX2	HP:0000047	Hypospadias	HP:0040282	ORPHA:912
5828	PEX2	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:44
5828	PEX2	HP:0000028	Cryptorchidism	1/3	OMIM:614866
5828	PEX2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:912
5828	PEX2	HP:0008872	Feeding difficulties in infancy	-	OMIM:614866
5828	PEX2	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:912
5828	PEX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5828	PEX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614866
5828	PEX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614867
5828	PEX2	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:912
5828	PEX2	HP:0001337	Tremor	-	OMIM:614867
5828	PEX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5828	PEX2	HP:0001310	Dysmetria	-	OMIM:614867
5828	PEX2	HP:0001302	Pachygyria	11/14	OMIM:614866
5828	PEX2	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:912
5828	PEX2	HP:0001321	Cerebellar hypoplasia	1/4	OMIM:614866
5828	PEX2	HP:0001319	Neonatal hypotonia	-	OMIM:614867
5828	PEX2	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:912
5828	PEX2	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:912
5828	PEX2	HP:0000175	Cleft palate	-	OMIM:614866
5828	PEX2	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:44
5828	PEX2	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/4	OMIM:614866
5828	PEX2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5828	PEX2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5828	PEX2	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:44
5828	PEX2	HP:0000113	Polycystic kidney dysplasia	1/4	OMIM:614866
5828	PEX2	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:912
5828	PEX2	HP:0000107	Renal cyst	-	OMIM:614866
5828	PEX2	HP:0001433	Hepatosplenomegaly	-	OMIM:614866
5828	PEX2	HP:0002764	Stippled chondral calcification	-	OMIM:614866
5828	PEX2	HP:0001410	Decreased liver function	-	OMIM:614867
5828	PEX2	HP:0001401	Intrahepatic biliary dysgenesis	-	OMIM:614866
5828	PEX2	HP:0002024	Malabsorption	HP:0040282	ORPHA:912
5828	PEX2	HP:0002021	Pyloric stenosis	HP:0040282	ORPHA:912
5828	PEX2	HP:0002033	Poor suck	1/4	OMIM:614866
5828	PEX2	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:772
5828	PEX2	HP:0100540	Palpebral edema	-	OMIM:614866
5828	PEX2	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:912
5828	PEX2	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:912
5828	PEX2	HP:0030948	Elevated gamma-glutamyltransferase level	1/4	OMIM:614866
5828	PEX2	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:772
5828	PEX2	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:772
5828	PEX2	HP:0008167	Very long chain fatty acid accumulation	1/1	OMIM:614867
5828	PEX2	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:912
5828	PEX2	HP:0002126	Polymicrogyria	-	OMIM:614866
5828	PEX2	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:912
5828	PEX2	HP:0004734	Renal cortical microcysts	-	OMIM:614866
5828	PEX2	HP:0002197	Generalized-onset seizure	1/4	OMIM:614866
5828	PEX2	HP:0010571	Elevated circulating phytanic acid concentration	HP:0040281	ORPHA:772
5828	PEX2	HP:0010571	Elevated circulating phytanic acid concentration	1/4	OMIM:614866
5828	PEX2	HP:0010571	Elevated circulating phytanic acid concentration	-	OMIM:614867
5828	PEX2	HP:0008207	Primary adrenal insufficiency	HP:0040281	ORPHA:44
5828	PEX2	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:912
5828	PEX2	HP:0003593	Infantile onset	1/1	OMIM:614867
5828	PEX2	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:44
5828	PEX2	HP:0003577	Congenital onset	1/4	OMIM:614866
5828	PEX2	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:772
5828	PEX2	HP:0002240	Hepatomegaly	2/4	OMIM:614866
5828	PEX2	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:912
5828	PEX2	HP:0010655	Epiphyseal stippling	-	OMIM:614866
5828	PEX2	HP:0010655	Epiphyseal stippling	HP:0040281	ORPHA:912
5828	PEX2	HP:0010628	Facial palsy	HP:0040283	ORPHA:772
5828	PEX2	HP:0002376	Developmental regression	HP:0040281	ORPHA:44
5828	PEX2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:44
5828	PEX2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:912
5828	PEX2	HP:0003677	Slowly progressive	-	OMIM:614867
5828	PEX2	HP:0002317	Unsteady gait	-	OMIM:614867
5828	PEX2	HP:0001093	Optic nerve dysplasia	-	OMIM:614866
5828	PEX2	HP:0001088	Brushfield spots	-	OMIM:614866
5828	PEX2	HP:0001088	Brushfield spots	HP:0040283	ORPHA:912
5828	PEX2	HP:0003623	Neonatal onset	1/4	OMIM:614866
5828	PEX2	HP:0002305	Athetosis	1/4	OMIM:614866
5828	PEX2	HP:0003621	Juvenile onset	8/19	OMIM:180100
5828	PEX2	HP:0006855	Cerebellar vermis atrophy	1/4	OMIM:614866
5828	PEX2	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:912
5828	PEX2	HP:0000639	Nystagmus	HP:0040282	ORPHA:772
5828	PEX2	HP:0000639	Nystagmus	HP:0040281	ORPHA:44
5828	PEX2	HP:0000639	Nystagmus	-	OMIM:614867
5828	PEX2	HP:0000639	Nystagmus	HP:0040282	ORPHA:912
5828	PEX2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:772
5828	PEX2	HP:0000648	Optic atrophy	1/4	OMIM:614866
5828	PEX2	HP:0000648	Optic atrophy	HP:0040281	ORPHA:44
5828	PEX2	HP:0000648	Optic atrophy	HP:0040282	ORPHA:912
5828	PEX2	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:912
5828	PEX2	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:912
5828	PEX2	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:44
5828	PEX2	HP:0009046	Difficulty running	-	OMIM:614867
5828	PEX2	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:44
5828	PEX2	HP:0000662	Nyctalopia	26/28	OMIM:180100
5828	PEX2	HP:0000662	Nyctalopia	HP:0040281	ORPHA:772
5828	PEX2	HP:0000657	Oculomotor apraxia	-	OMIM:614867
5828	PEX2	HP:0004322	Short stature	HP:0040281	ORPHA:772
5828	PEX2	HP:0004322	Short stature	HP:0040281	ORPHA:44
5828	PEX2	HP:0004322	Short stature	HP:0040281	ORPHA:912
5828	PEX2	HP:0031956	Elevated circulating aspartate aminotransferase concentration	2/4	OMIM:614866
5828	PEX2	HP:0031964	Elevated circulating alanine aminotransferase concentration	2/4	OMIM:614866
5828	PEX2	HP:0012736	Profound global developmental delay	HP:0040281	ORPHA:912
5828	PEX2	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:44
5828	PEX2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:772
5828	PEX2	HP:0011463	Childhood onset	3/19	OMIM:180100
5828	PEX2	HP:0011463	Childhood onset	1/4	OMIM:614866
5828	PEX2	HP:0011462	Young adult onset	8/19	OMIM:180100
5828	PEX2	HP:0011421	Death in adolescence	1/4	OMIM:614866
5828	PEX2	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/4	OMIM:614866
5828	PEX2	HP:0004474	Persistent open anterior fontanelle	1/4	OMIM:614866
5828	PEX2	HP:0000954	Single transverse palmar crease	-	OMIM:614866
5828	PEX2	HP:0000952	Jaundice	1/4	OMIM:614866
5828	PEX2	HP:0000952	Jaundice	HP:0040281	ORPHA:912
5828	PEX2	HP:0008064	Ichthyosis	HP:0040283	ORPHA:772
5828	PEX2	HP:0011675	Arrhythmia	HP:0040283	ORPHA:772
5828	PEX2	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:44
5828	PEX2	HP:0000286	Epicanthus	1/4	OMIM:614866
5828	PEX2	HP:0000286	Epicanthus	HP:0040281	ORPHA:912
5828	PEX2	HP:0000260	Wide anterior fontanel	2/4	OMIM:614866
5828	PEX2	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:44
5828	PEX2	HP:0000260	Wide anterior fontanel	HP:0040281	ORPHA:912
5828	PEX2	HP:0000256	Macrocephaly	HP:0040282	ORPHA:44
5828	PEX2	HP:0000256	Macrocephaly	HP:0040282	ORPHA:912
5828	PEX2	HP:0000271	Abnormality of the face	HP:0040283	ORPHA:772
5828	PEX2	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:44
5828	PEX2	HP:0007759	Opacification of the corneal stroma	-	OMIM:614866
5828	PEX2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5828	PEX2	HP:0000239	Large fontanelles	-	OMIM:614866
5828	PEX2	HP:0000252	Microcephaly	HP:0040282	ORPHA:912
5828	PEX2	HP:0000218	High palate	1/4	OMIM:614866
5828	PEX2	HP:0000218	High palate	HP:0040282	ORPHA:912
5828	PEX2	HP:0001522	Death in infancy	2/4	OMIM:614866
5828	PEX2	HP:0001522	Death in infancy	HP:0040281	ORPHA:912
5828	PEX2	HP:0031358	Vegetative state	1/4	OMIM:614866
5828	PEX2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:772
5828	PEX2	HP:0001508	Failure to thrive	-	OMIM:614866
5828	PEX2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:912
5828	PEX2	HP:0030048	Colpocephaly	1/4	OMIM:614866
5828	PEX2	HP:0001518	Small for gestational age	1/4	OMIM:614866
5828	PEX2	HP:0001511	Intrauterine growth retardation	-	OMIM:614866
5828	PEX2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5828	PEX2	HP:0012385	Camptodactyly	-	OMIM:614866
5828	PEX2	HP:0011039	Abnormal helix morphology	-	OMIM:614866
5828	PEX2	HP:0012368	Flat face	-	OMIM:614866
5828	PEX2	HP:0012368	Flat face	HP:0040281	ORPHA:912
5828	PEX2	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:912
5828	PEX2	HP:0005180	Tricuspid regurgitation	2/4	OMIM:614866
5828	PEX2	HP:0002908	Conjugated hyperbilirubinemia	1/4	OMIM:614866
5828	PEX2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:772
5828	PEX2	HP:0000365	Hearing impairment	1/4	OMIM:614866
5828	PEX2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:44
5828	PEX2	HP:0000369	Low-set ears	-	OMIM:614866
5828	PEX2	HP:0000348	High forehead	11/14	OMIM:614866
5828	PEX2	HP:0000348	High forehead	HP:0040281	ORPHA:44
5828	PEX2	HP:0000348	High forehead	HP:0040281	ORPHA:912
5828	PEX2	HP:0000347	Micrognathia	-	OMIM:614866
5828	PEX2	HP:0000347	Micrognathia	HP:0040282	ORPHA:912
5828	PEX2	HP:0000316	Hypertelorism	-	OMIM:614866
5828	PEX2	HP:0000311	Round face	-	OMIM:614866
5828	PEX2	HP:0030148	Heart murmur	1/4	OMIM:614866
5828	PEX2	HP:0001659	Aortic regurgitation	1/4	OMIM:614866
5828	PEX2	HP:0001653	Mitral regurgitation	1/4	OMIM:614866
5828	PEX2	HP:0001629	Ventricular septal defect	1/4	OMIM:614866
5828	PEX2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:912
5828	PEX2	HP:0001622	Premature birth	HP:0040282	ORPHA:912
5828	PEX2	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:772
5828	PEX2	HP:0002967	Cubitus valgus	-	OMIM:614866
5828	PEX2	HP:0001631	Atrial septal defect	1/4	OMIM:614866
5828	PEX2	HP:0007957	Corneal opacity	HP:0040281	ORPHA:912
5828	PEX2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:772
5828	PEX2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:44
5828	PEX2	HP:0000407	Sensorineural hearing impairment	1/4	OMIM:614866
5828	PEX2	HP:0000407	Sensorineural hearing impairment	-	OMIM:614867
5828	PEX2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:912
5828	PEX2	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:912
5828	PEX2	HP:0000486	Strabismus	HP:0040281	ORPHA:44
5828	PEX2	HP:0001792	Small nail	1/4	OMIM:614866
5828	PEX2	HP:0000463	Anteverted nares	HP:0040281	ORPHA:44
5828	PEX2	HP:0000474	Thickened nuchal skin fold	HP:0040283	ORPHA:912
5828	PEX2	HP:0001744	Splenomegaly	-	OMIM:614866
5828	PEX2	HP:0001762	Talipes equinovarus	-	OMIM:614866
5828	PEX2	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:44
5828	PEX2	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:912
5828	PEX2	HP:0001761	Pes cavus	HP:0040283	OMIM:614867
5828	PEX2	HP:0005469	Flat occiput	HP:0040282	ORPHA:912
5828	PEX2	HP:0000518	Cataract	HP:0040283	ORPHA:772
5828	PEX2	HP:0000518	Cataract	1/4	OMIM:614866
5828	PEX2	HP:0000518	Cataract	HP:0040282	ORPHA:44
5828	PEX2	HP:0000518	Cataract	HP:0040282	ORPHA:912
5828	PEX2	HP:0000514	Slow saccadic eye movements	-	OMIM:614867
5828	PEX2	HP:0000510	Rod-cone dystrophy	1/4	OMIM:614866
5828	PEX2	HP:0000510	Rod-cone dystrophy	1/1	OMIM:614867
5828	PEX2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5828	PEX2	HP:0000510	Rod-cone dystrophy	HP:0040281	ORPHA:772
5828	PEX2	HP:0001840	Metatarsus adductus	-	OMIM:614866
5828	PEX2	HP:0000508	Ptosis	HP:0040282	ORPHA:44
5828	PEX2	HP:0000505	Visual impairment	HP:0040281	ORPHA:772
5828	PEX2	HP:0000505	Visual impairment	-	OMIM:614867
5828	PEX2	HP:0000505	Visual impairment	HP:0040282	ORPHA:44
5828	PEX2	HP:0000505	Visual impairment	HP:0040282	ORPHA:912
5828	PEX2	HP:0000501	Glaucoma	HP:0040283	ORPHA:912
5828	PEX2	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:912
5828	PEX2	HP:0000580	Pigmentary retinopathy	-	OMIM:614866
5828	PEX2	HP:0000575	Scotoma	5/18	OMIM:180100
5828	PEX2	HP:0000556	Retinal dystrophy	-	OMIM:614867
5828	PEX2	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:912
5828	PEX2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5828	PEX2	HP:0000545	Myopia	-	OMIM:180100
5830	PEX5	HP:0001133	Constriction of peripheral visual field	HP:0040281	ORPHA:772
5830	PEX5	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:912
5830	PEX5	HP:0010864	Intellectual disability, severe	3/3	OMIM:616716
5830	PEX5	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5830	PEX5	HP:0001293	Cranial nerve compression	-	OMIM:131300
5830	PEX5	HP:0001290	Generalized hypotonia	-	OMIM:214110
5830	PEX5	HP:0001284	Areflexia	-	OMIM:214110
5830	PEX5	HP:0001250	Seizure	HP:0040283	ORPHA:772
5830	PEX5	HP:0001250	Seizure	HP:0040281	ORPHA:44
5830	PEX5	HP:0001250	Seizure	-	OMIM:214110
5830	PEX5	HP:0001250	Seizure	4/4	OMIM:616716
5830	PEX5	HP:0001250	Seizure	-	OMIM:202370
5830	PEX5	HP:0001250	Seizure	HP:0040282	ORPHA:912
5830	PEX5	HP:0001252	Hypotonia	HP:0040282	ORPHA:772
5830	PEX5	HP:0001252	Hypotonia	HP:0040281	ORPHA:44
5830	PEX5	HP:0001252	Hypotonia	-	OMIM:214110
5830	PEX5	HP:0001252	Hypotonia	2/7	OMIM:615777
5830	PEX5	HP:0001251	Ataxia	HP:0040282	ORPHA:772
5830	PEX5	HP:0001249	Intellectual disability	-	OMIM:214110
5830	PEX5	HP:0001249	Intellectual disability	-	OMIM:202370
5830	PEX5	HP:0001249	Intellectual disability	5/7	OMIM:615777
5830	PEX5	HP:0001265	Hyporeflexia	2/4	OMIM:616716
5830	PEX5	HP:0001263	Global developmental delay	HP:0040281	ORPHA:772
5830	PEX5	HP:0001263	Global developmental delay	4/4	OMIM:616716
5830	PEX5	HP:0001263	Global developmental delay	-	OMIM:615777
5830	PEX5	HP:0001257	Spasticity	HP:0040282	ORPHA:772
5830	PEX5	HP:0100864	Short femoral neck	1/4	OMIM:616716
5830	PEX5	HP:0008665	Clitoral hypertrophy	-	OMIM:214110
5830	PEX5	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:912
5830	PEX5	HP:0002515	Waddling gait	54/102	OMIM:131300
5830	PEX5	HP:0003819	Death in childhood	-	OMIM:214110
5830	PEX5	HP:0001399	Hepatic failure	HP:0040281	ORPHA:912
5830	PEX5	HP:0001392	Abnormality of the liver	HP:0040281	ORPHA:44
5830	PEX5	HP:0001382	Joint hypermobility	-	OMIM:615777
5830	PEX5	HP:0000047	Hypospadias	HP:0040282	ORPHA:912
5830	PEX5	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:44
5830	PEX5	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5830	PEX5	HP:0000028	Cryptorchidism	-	OMIM:214110
5830	PEX5	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:912
5830	PEX5	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5830	PEX5	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:912
5830	PEX5	HP:0006150	Swan neck-like deformities of the fingers	1/4	OMIM:616716
5830	PEX5	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5830	PEX5	HP:0001324	Muscle weakness	40/96	OMIM:131300
5830	PEX5	HP:0001324	Muscle weakness	1/4	OMIM:616716
5830	PEX5	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5830	PEX5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5830	PEX5	HP:0000007	Autosomal recessive inheritance	-	OMIM:214110
5830	PEX5	HP:0000007	Autosomal recessive inheritance	-	OMIM:616716
5830	PEX5	HP:0000007	Autosomal recessive inheritance	-	OMIM:202370
5830	PEX5	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:912
5830	PEX5	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5830	PEX5	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:912
5830	PEX5	HP:0002650	Scoliosis	12/14	OMIM:131300
5830	PEX5	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:912
5830	PEX5	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5830	PEX5	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5830	PEX5	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5830	PEX5	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5830	PEX5	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:912
5830	PEX5	HP:0000175	Cleft palate	-	OMIM:214110
5830	PEX5	HP:0000175	Cleft palate	2/7	OMIM:615777
5830	PEX5	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:44
5830	PEX5	HP:0002705	High, narrow palate	-	OMIM:202370
5830	PEX5	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:44
5830	PEX5	HP:0012103	Abnormality of the mitochondrion	-	OMIM:214110
5830	PEX5	HP:0000113	Polycystic kidney dysplasia	-	OMIM:214110
5830	PEX5	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:912
5830	PEX5	HP:0002764	Stippled chondral calcification	-	OMIM:214110
5830	PEX5	HP:0001401	Intrahepatic biliary dysgenesis	-	OMIM:214110
5830	PEX5	HP:0003355	Aminoaciduria	-	OMIM:214110
5830	PEX5	HP:0002024	Malabsorption	HP:0040282	ORPHA:912
5830	PEX5	HP:0002021	Pyloric stenosis	HP:0040282	ORPHA:912
5830	PEX5	HP:0002033	Poor suck	-	OMIM:214110
5830	PEX5	HP:0002007	Frontal bossing	-	OMIM:202370
5830	PEX5	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:772
5830	PEX5	HP:0100540	Palpebral edema	-	OMIM:214110
5830	PEX5	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:912
5830	PEX5	HP:0002099	Asthma	2/4	OMIM:616716
5830	PEX5	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:912
5830	PEX5	HP:0003388	Easy fatigability	36/76	OMIM:131300
5830	PEX5	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5830	PEX5	HP:0011703	Sinus tachycardia	1/4	OMIM:616716
5830	PEX5	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:772
5830	PEX5	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:772
5830	PEX5	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:912
5830	PEX5	HP:0009473	Joint contracture of the hand	-	OMIM:214110
5830	PEX5	HP:0003455	Elevated circulating long chain fatty acid concentration	-	OMIM:202370
5830	PEX5	HP:0003455	Elevated circulating long chain fatty acid concentration	-	OMIM:214110
5830	PEX5	HP:0002136	Broad-based gait	1/4	OMIM:616716
5830	PEX5	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:912
5830	PEX5	HP:0002104	Apnea	-	OMIM:214110
5830	PEX5	HP:0010571	Elevated circulating phytanic acid concentration	HP:0040281	ORPHA:772
5830	PEX5	HP:0010544	Vertical nystagmus	1/4	OMIM:616716
5830	PEX5	HP:0008207	Primary adrenal insufficiency	HP:0040281	ORPHA:44
5830	PEX5	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:912
5830	PEX5	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:44
5830	PEX5	HP:0003577	Congenital onset	4/4	OMIM:616716
5830	PEX5	HP:0002240	Hepatomegaly	-	OMIM:214110
5830	PEX5	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:772
5830	PEX5	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:912
5830	PEX5	HP:0002205	Recurrent respiratory infections	1/4	OMIM:616716
5830	PEX5	HP:0010655	Epiphyseal stippling	HP:0040281	ORPHA:912
5830	PEX5	HP:0010628	Facial palsy	HP:0040283	ORPHA:772
5830	PEX5	HP:0003510	Severe short stature	7/7	OMIM:615777
5830	PEX5	HP:0010696	Polar cataract	-	OMIM:202370
5830	PEX5	HP:0002376	Developmental regression	HP:0040281	ORPHA:44
5830	PEX5	HP:0002353	EEG abnormality	HP:0040281	ORPHA:44
5830	PEX5	HP:0002353	EEG abnormality	HP:0040281	ORPHA:912
5830	PEX5	HP:0002315	Headache	-	OMIM:131300
5830	PEX5	HP:0004976	Knee dislocation	6/7	OMIM:615777
5830	PEX5	HP:0009830	Peripheral neuropathy	4/4	OMIM:616716
5830	PEX5	HP:0001093	Optic nerve dysplasia	-	OMIM:214110
5830	PEX5	HP:0009803	Short phalanx of finger	-	OMIM:615777
5830	PEX5	HP:0001088	Brushfield spots	HP:0040283	ORPHA:912
5830	PEX5	HP:0001088	Brushfield spots	-	OMIM:214110
5830	PEX5	HP:0009763	Limb pain	63/92	OMIM:131300
5830	PEX5	HP:0003621	Juvenile onset	-	OMIM:131300
5830	PEX5	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5830	PEX5	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:912
5830	PEX5	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5830	PEX5	HP:0000639	Nystagmus	HP:0040282	ORPHA:772
5830	PEX5	HP:0000639	Nystagmus	HP:0040281	ORPHA:44
5830	PEX5	HP:0000639	Nystagmus	HP:0040282	ORPHA:912
5830	PEX5	HP:6001056	Out-toeing	-	OMIM:131300
5830	PEX5	HP:0000651	Diplopia	-	OMIM:131300
5830	PEX5	HP:0000648	Optic atrophy	HP:0040283	ORPHA:772
5830	PEX5	HP:0000648	Optic atrophy	HP:0040281	ORPHA:44
5830	PEX5	HP:0000648	Optic atrophy	HP:0040282	ORPHA:912
5830	PEX5	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:912
5830	PEX5	HP:0001956	Truncal obesity	2/7	OMIM:615777
5830	PEX5	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:912
5830	PEX5	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:44
5830	PEX5	HP:0001903	Anemia	HP:0040283	OMIM:131300
5830	PEX5	HP:0010049	Short metacarpal	-	OMIM:615777
5830	PEX5	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:44
5830	PEX5	HP:0000678	Dental crowding	-	OMIM:615777
5830	PEX5	HP:0000662	Nyctalopia	HP:0040281	ORPHA:772
5830	PEX5	HP:0000670	Carious teeth	-	OMIM:131300
5830	PEX5	HP:0011304	Broad thumb	2/7	OMIM:615777
5830	PEX5	HP:0000668	Hypodontia	-	OMIM:615777
5830	PEX5	HP:0001999	Abnormal facial shape	-	OMIM:202370
5830	PEX5	HP:0000664	Synophrys	-	OMIM:615777
5830	PEX5	HP:0000666	Horizontal nystagmus	1/4	OMIM:616716
5830	PEX5	HP:0004322	Short stature	HP:0040281	ORPHA:772
5830	PEX5	HP:0004322	Short stature	HP:0040281	ORPHA:44
5830	PEX5	HP:0004322	Short stature	4/4	OMIM:616716
5830	PEX5	HP:0004322	Short stature	HP:0040281	ORPHA:912
5830	PEX5	HP:0030680	Abnormal cardiovascular system morphology	-	OMIM:214110
5830	PEX5	HP:0004396	Poor appetite	-	OMIM:131300
5830	PEX5	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5830	PEX5	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5830	PEX5	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5830	PEX5	HP:0003026	Short long bone	7/7	OMIM:615777
5830	PEX5	HP:0003025	Metaphyseal irregularity	1/4	OMIM:616716
5830	PEX5	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5830	PEX5	HP:0003021	Metaphyseal cupping	1/4	OMIM:616716
5830	PEX5	HP:0012736	Profound global developmental delay	HP:0040281	ORPHA:912
5830	PEX5	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:44
5830	PEX5	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5830	PEX5	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5830	PEX5	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5830	PEX5	HP:0000750	Delayed speech and language development	-	OMIM:615777
5830	PEX5	HP:0000708	Atypical behavior	HP:0040282	ORPHA:772
5830	PEX5	HP:0011461	Fetal onset	7/7	OMIM:615777
5830	PEX5	HP:0000778	Hypoplasia of the thymus	-	OMIM:214110
5830	PEX5	HP:0000774	Narrow chest	2/7	OMIM:615777
5830	PEX5	HP:0005781	Contractures of the large joints	1/4	OMIM:616716
5830	PEX5	HP:0000926	Platyspondyly	1/7	OMIM:615777
5830	PEX5	HP:0003180	Flat acetabular roof	-	OMIM:615777
5830	PEX5	HP:0004482	Relative macrocephaly	-	OMIM:615777
5830	PEX5	HP:0005792	Short humerus	3/4	OMIM:616716
5830	PEX5	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5830	PEX5	HP:0000846	Adrenal insufficiency	-	OMIM:202370
5830	PEX5	HP:0000823	Delayed puberty	-	OMIM:131300
5830	PEX5	HP:0000894	Short clavicles	-	OMIM:615777
5830	PEX5	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5830	PEX5	HP:0003202	Skeletal muscle atrophy	3/4	OMIM:616716
5830	PEX5	HP:0000954	Single transverse palmar crease	-	OMIM:214110
5830	PEX5	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5830	PEX5	HP:0000952	Jaundice	-	OMIM:214110
5830	PEX5	HP:0000952	Jaundice	HP:0040281	ORPHA:912
5830	PEX5	HP:0008064	Ichthyosis	HP:0040283	ORPHA:772
5830	PEX5	HP:0011675	Arrhythmia	HP:0040283	ORPHA:772
5830	PEX5	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:44
5830	PEX5	HP:0000286	Epicanthus	-	OMIM:214110
5830	PEX5	HP:0000286	Epicanthus	-	OMIM:202370
5830	PEX5	HP:0000286	Epicanthus	HP:0040281	ORPHA:912
5830	PEX5	HP:0000286	Epicanthus	1/7	OMIM:615777
5830	PEX5	HP:0000280	Coarse facial features	2/7	OMIM:615777
5830	PEX5	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:44
5830	PEX5	HP:0000260	Wide anterior fontanel	HP:0040281	ORPHA:912
5830	PEX5	HP:0000262	Turricephaly	-	OMIM:214110
5830	PEX5	HP:0000256	Macrocephaly	HP:0040282	ORPHA:44
5830	PEX5	HP:0000256	Macrocephaly	HP:0040282	ORPHA:912
5830	PEX5	HP:0000271	Abnormality of the face	HP:0040283	ORPHA:772
5830	PEX5	HP:0000268	Dolichocephaly	-	OMIM:214110
5830	PEX5	HP:0000268	Dolichocephaly	-	OMIM:202370
5830	PEX5	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:44
5830	PEX5	HP:0007759	Opacification of the corneal stroma	-	OMIM:214110
5830	PEX5	HP:0002812	Coxa vara	2/4	OMIM:616716
5830	PEX5	HP:0002827	Hip dislocation	3/7	OMIM:615777
5830	PEX5	HP:0005041	Irregular capital femoral epiphysis	1/4	OMIM:616716
5830	PEX5	HP:0000239	Large fontanelles	-	OMIM:214110
5830	PEX5	HP:0000252	Microcephaly	4/4	OMIM:616716
5830	PEX5	HP:0000252	Microcephaly	HP:0040282	ORPHA:912
5830	PEX5	HP:0000252	Microcephaly	-	OMIM:615777
5830	PEX5	HP:0032660	Convulsive status epilepticus	1/4	OMIM:616716
5830	PEX5	HP:0000218	High palate	-	OMIM:202370
5830	PEX5	HP:0000218	High palate	HP:0040282	ORPHA:912
5830	PEX5	HP:0002857	Genu valgum	-	OMIM:131300
5830	PEX5	HP:0001522	Death in infancy	HP:0040281	ORPHA:912
5830	PEX5	HP:0002868	Narrow iliac wing	1/4	OMIM:616716
5830	PEX5	HP:0001533	Slender build	-	OMIM:131300
5830	PEX5	HP:0001508	Failure to thrive	HP:0040281	ORPHA:772
5830	PEX5	HP:0001508	Failure to thrive	-	OMIM:214110
5830	PEX5	HP:0001508	Failure to thrive	HP:0040281	ORPHA:912
5830	PEX5	HP:0001511	Intrauterine growth retardation	-	OMIM:214110
5830	PEX5	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5830	PEX5	HP:0001510	Growth delay	4/4	OMIM:616716
5830	PEX5	HP:0007807	Optic nerve compression	-	OMIM:131300
5830	PEX5	HP:0012385	Camptodactyly	-	OMIM:214110
5830	PEX5	HP:0011039	Abnormal helix morphology	-	OMIM:214110
5830	PEX5	HP:0012368	Flat face	7/7	OMIM:615777
5830	PEX5	HP:0012368	Flat face	HP:0040281	ORPHA:912
5830	PEX5	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:912
5830	PEX5	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5830	PEX5	HP:0002943	Thoracic scoliosis	1/4	OMIM:616716
5830	PEX5	HP:0000365	Hearing impairment	HP:0040282	ORPHA:772
5830	PEX5	HP:0000365	Hearing impairment	10/67	OMIM:131300
5830	PEX5	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:44
5830	PEX5	HP:0000369	Low-set ears	-	OMIM:202370
5830	PEX5	HP:0000343	Long philtrum	1/7	OMIM:615777
5830	PEX5	HP:0011001	Increased bone mineral density	-	OMIM:131300
5830	PEX5	HP:0000348	High forehead	-	OMIM:214110
5830	PEX5	HP:0000348	High forehead	-	OMIM:202370
5830	PEX5	HP:0000348	High forehead	HP:0040281	ORPHA:44
5830	PEX5	HP:0000348	High forehead	HP:0040281	ORPHA:912
5830	PEX5	HP:0000347	Micrognathia	-	OMIM:214110
5830	PEX5	HP:0000347	Micrognathia	HP:0040282	ORPHA:912
5830	PEX5	HP:0000316	Hypertelorism	-	OMIM:214110
5830	PEX5	HP:0000311	Round face	2/7	OMIM:615777
5830	PEX5	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:912
5830	PEX5	HP:0001627	Abnormal heart morphology	-	OMIM:214110
5830	PEX5	HP:0001622	Premature birth	HP:0040282	ORPHA:912
5830	PEX5	HP:0002970	Genu varum	-	OMIM:615777
5830	PEX5	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:772
5830	PEX5	HP:0002967	Cubitus valgus	-	OMIM:214110
5830	PEX5	HP:0000303	Mandibular prognathia	-	OMIM:131300
5830	PEX5	HP:0007957	Corneal opacity	HP:0040281	ORPHA:912
5830	PEX5	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:772
5830	PEX5	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:44
5830	PEX5	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:912
5830	PEX5	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:912
5830	PEX5	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5830	PEX5	HP:0000486	Strabismus	HP:0040281	ORPHA:44
5830	PEX5	HP:0000463	Anteverted nares	-	OMIM:202370
5830	PEX5	HP:0000463	Anteverted nares	HP:0040281	ORPHA:44
5830	PEX5	HP:0000474	Thickened nuchal skin fold	HP:0040283	ORPHA:912
5830	PEX5	HP:0000470	Short neck	1/7	OMIM:615777
5830	PEX5	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5830	PEX5	HP:0001763	Pes planus	1/7	OMIM:615777
5830	PEX5	HP:0001762	Talipes equinovarus	-	OMIM:214110
5830	PEX5	HP:0001762	Talipes equinovarus	1/4	OMIM:616716
5830	PEX5	HP:0000431	Wide nasal bridge	-	OMIM:202370
5830	PEX5	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:44
5830	PEX5	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:912
5830	PEX5	HP:0001761	Pes cavus	1/4	OMIM:616716
5830	PEX5	HP:0005469	Flat occiput	HP:0040282	ORPHA:912
5830	PEX5	HP:0000518	Cataract	-	OMIM:214110
5830	PEX5	HP:0000518	Cataract	HP:0040283	ORPHA:772
5830	PEX5	HP:0000518	Cataract	HP:0040282	ORPHA:44
5830	PEX5	HP:0000518	Cataract	HP:0040282	ORPHA:912
5830	PEX5	HP:0000519	Developmental cataract	4/4	OMIM:616716
5830	PEX5	HP:0000510	Rod-cone dystrophy	HP:0040281	ORPHA:772
5830	PEX5	HP:0001840	Metatarsus adductus	-	OMIM:214110
5830	PEX5	HP:0001840	Metatarsus adductus	-	OMIM:615777
5830	PEX5	HP:0000520	Proptosis	2/4	OMIM:131300
5830	PEX5	HP:0000520	Proptosis	7/7	OMIM:615777
5830	PEX5	HP:0000508	Ptosis	HP:0040282	ORPHA:44
5830	PEX5	HP:0000505	Visual impairment	HP:0040281	ORPHA:772
5830	PEX5	HP:0000505	Visual impairment	HP:0040282	ORPHA:44
5830	PEX5	HP:0000505	Visual impairment	HP:0040282	ORPHA:912
5830	PEX5	HP:0000501	Glaucoma	HP:0040283	ORPHA:912
5830	PEX5	HP:0000582	Upslanted palpebral fissure	-	OMIM:214110
5830	PEX5	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:912
5830	PEX5	HP:0000580	Pigmentary retinopathy	-	OMIM:214110
5830	PEX5	HP:0000592	Blue sclerae	2/7	OMIM:615777
5830	PEX5	HP:0011220	Prominent forehead	-	OMIM:202370
5830	PEX5	HP:0000565	Esotropia	-	OMIM:202370
5830	PEX5	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5830	PEX5	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:912
5830	PEX5	HP:0012514	Lower limb pain	4/4	OMIM:131300
5831	PYCR1	HP:0009904	Prominent ear helix	1/1	OMIM:614438
5831	PYCR1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5831	PYCR1	HP:0001293	Cranial nerve compression	-	OMIM:131300
5831	PYCR1	HP:0001274	Agenesis of corpus callosum	2/3	OMIM:612940
5831	PYCR1	HP:0001270	Motor delay	6/6	OMIM:612940
5831	PYCR1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:2078
5831	PYCR1	HP:0001252	Hypotonia	HP:0040282	ORPHA:2078
5831	PYCR1	HP:0001252	Hypotonia	2/7	OMIM:615777
5831	PYCR1	HP:0001249	Intellectual disability	3/6	OMIM:612940
5831	PYCR1	HP:0001249	Intellectual disability	22/23	OMIM:614438
5831	PYCR1	HP:0001249	Intellectual disability	5/7	OMIM:615777
5831	PYCR1	HP:0001263	Global developmental delay	5/5	OMIM:612940
5831	PYCR1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2078
5831	PYCR1	HP:0001263	Global developmental delay	-	OMIM:615777
5831	PYCR1	HP:0007392	Excessive wrinkled skin	9/9	OMIM:612940
5831	PYCR1	HP:0007392	Excessive wrinkled skin	22/22	OMIM:614438
5831	PYCR1	HP:0002515	Waddling gait	54/102	OMIM:131300
5831	PYCR1	HP:0001374	Congenital hip dislocation	6/10	OMIM:612940
5831	PYCR1	HP:0001371	Flexion contracture	1/1	OMIM:614438
5831	PYCR1	HP:0001382	Joint hypermobility	5/5	OMIM:612940
5831	PYCR1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:2078
5831	PYCR1	HP:0001382	Joint hypermobility	-	OMIM:615777
5831	PYCR1	HP:0000023	Inguinal hernia	1/3	OMIM:612940
5831	PYCR1	HP:0000023	Inguinal hernia	1/1	OMIM:614438
5831	PYCR1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5831	PYCR1	HP:0000028	Cryptorchidism	1/1	OMIM:614438
5831	PYCR1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5831	PYCR1	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:2078
5831	PYCR1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5831	PYCR1	HP:0001324	Muscle weakness	40/96	OMIM:131300
5831	PYCR1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5831	PYCR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612940
5831	PYCR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614438
5831	PYCR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5831	PYCR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5831	PYCR1	HP:0002650	Scoliosis	HP:0040282	ORPHA:2078
5831	PYCR1	HP:0002650	Scoliosis	2/3	OMIM:612940
5831	PYCR1	HP:0002650	Scoliosis	12/14	OMIM:131300
5831	PYCR1	HP:0002645	Wormian bones	1/2	OMIM:612940
5831	PYCR1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5831	PYCR1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5831	PYCR1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5831	PYCR1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5831	PYCR1	HP:0000175	Cleft palate	2/7	OMIM:615777
5831	PYCR1	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:2078
5831	PYCR1	HP:0002021	Pyloric stenosis	1/1	OMIM:614438
5831	PYCR1	HP:0002020	Gastroesophageal reflux	1/4	OMIM:612940
5831	PYCR1	HP:0002007	Frontal bossing	-	OMIM:612940
5831	PYCR1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:2078
5831	PYCR1	HP:0011800	Midface retrusion	3/4	OMIM:612940
5831	PYCR1	HP:0003388	Easy fatigability	36/76	OMIM:131300
5831	PYCR1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5831	PYCR1	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:2078
5831	PYCR1	HP:0011849	Abnormal bone ossification	HP:0040281	ORPHA:2078
5831	PYCR1	HP:0003577	Congenital onset	23/23	OMIM:614438
5831	PYCR1	HP:0002213	Fine hair	1/1	OMIM:614438
5831	PYCR1	HP:0100790	Hernia	HP:0040283	ORPHA:2078
5831	PYCR1	HP:0010648	Dermal translucency	6/6	OMIM:612940
5831	PYCR1	HP:0010648	Dermal translucency	1/1	OMIM:614438
5831	PYCR1	HP:0003510	Severe short stature	7/7	OMIM:615777
5831	PYCR1	HP:0003510	Severe short stature	HP:0040281	ORPHA:2078
5831	PYCR1	HP:0001015	Prominent superficial veins	5/5	OMIM:612940
5831	PYCR1	HP:0001015	Prominent superficial veins	1/1	OMIM:614438
5831	PYCR1	HP:0002315	Headache	-	OMIM:131300
5831	PYCR1	HP:0004976	Knee dislocation	6/7	OMIM:615777
5831	PYCR1	HP:0100679	Lack of skin elasticity	5/5	OMIM:612940
5831	PYCR1	HP:0009803	Short phalanx of finger	-	OMIM:615777
5831	PYCR1	HP:0001087	Developmental glaucoma	1/1	OMIM:614438
5831	PYCR1	HP:0009763	Limb pain	63/92	OMIM:131300
5831	PYCR1	HP:0002305	Athetosis	5/23	OMIM:614438
5831	PYCR1	HP:0003621	Juvenile onset	-	OMIM:131300
5831	PYCR1	HP:0004948	Vascular tortuosity	0/5	OMIM:612940
5831	PYCR1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5831	PYCR1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5831	PYCR1	HP:6001056	Out-toeing	-	OMIM:131300
5831	PYCR1	HP:0000651	Diplopia	-	OMIM:131300
5831	PYCR1	HP:0001956	Truncal obesity	2/7	OMIM:615777
5831	PYCR1	HP:0000601	Hypotelorism	HP:0040283	OMIM:612940
5831	PYCR1	HP:0001903	Anemia	HP:0040283	OMIM:131300
5831	PYCR1	HP:0010049	Short metacarpal	-	OMIM:615777
5831	PYCR1	HP:0000678	Dental crowding	-	OMIM:615777
5831	PYCR1	HP:0000691	Microdontia	1/1	OMIM:612940
5831	PYCR1	HP:0000670	Carious teeth	-	OMIM:131300
5831	PYCR1	HP:0011304	Broad thumb	2/7	OMIM:615777
5831	PYCR1	HP:0000668	Hypodontia	-	OMIM:615777
5831	PYCR1	HP:0000664	Synophrys	-	OMIM:615777
5831	PYCR1	HP:0004396	Poor appetite	-	OMIM:131300
5831	PYCR1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5831	PYCR1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5831	PYCR1	HP:0034197	Third trimester onset	5/5	OMIM:612940
5831	PYCR1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5831	PYCR1	HP:0003026	Short long bone	7/7	OMIM:615777
5831	PYCR1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5831	PYCR1	HP:0000767	Pectus excavatum	3/9	OMIM:612940
5831	PYCR1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5831	PYCR1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5831	PYCR1	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:2078
5831	PYCR1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5831	PYCR1	HP:0000750	Delayed speech and language development	1/1	OMIM:614438
5831	PYCR1	HP:0000750	Delayed speech and language development	-	OMIM:615777
5831	PYCR1	HP:0011461	Fetal onset	7/7	OMIM:615777
5831	PYCR1	HP:0000774	Narrow chest	2/7	OMIM:615777
5831	PYCR1	HP:0003199	Decreased muscle mass	1/3	OMIM:612940
5831	PYCR1	HP:0034273	Premature sagging cheeks	5/5	OMIM:612940
5831	PYCR1	HP:0000926	Platyspondyly	1/7	OMIM:615777
5831	PYCR1	HP:0000926	Platyspondyly	HP:0040283	ORPHA:2078
5831	PYCR1	HP:0003180	Flat acetabular roof	-	OMIM:615777
5831	PYCR1	HP:0004482	Relative macrocephaly	-	OMIM:615777
5831	PYCR1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5831	PYCR1	HP:0000823	Delayed puberty	-	OMIM:131300
5831	PYCR1	HP:0000894	Short clavicles	-	OMIM:615777
5831	PYCR1	HP:0004568	Beaking of vertebral bodies	HP:0040281	ORPHA:2078
5831	PYCR1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5831	PYCR1	HP:0004586	Biconcave vertebral bodies	HP:0040281	ORPHA:2078
5831	PYCR1	HP:0000978	Bruising susceptibility	2/2	OMIM:612940
5831	PYCR1	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:2078
5831	PYCR1	HP:0000973	Cutis laxa	22/22	OMIM:614438
5831	PYCR1	HP:0000973	Cutis laxa	6/6	OMIM:612940
5831	PYCR1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5831	PYCR1	HP:0000963	Thin skin	1/1	OMIM:614438
5831	PYCR1	HP:0000963	Thin skin	6/6	OMIM:612940
5831	PYCR1	HP:0000963	Thin skin	HP:0040281	ORPHA:2078
5831	PYCR1	HP:0000939	Osteoporosis	1/1	OMIM:614438
5831	PYCR1	HP:0000939	Osteoporosis	HP:0040281	ORPHA:2078
5831	PYCR1	HP:0000938	Osteopenia	10/11	OMIM:614438
5831	PYCR1	HP:0000938	Osteopenia	-	OMIM:612940
5831	PYCR1	HP:0045025	Narrow palpebral fissure	1/1	OMIM:614438
5831	PYCR1	HP:0008070	Sparse hair	1/1	OMIM:614438
5831	PYCR1	HP:0000286	Epicanthus	1/7	OMIM:615777
5831	PYCR1	HP:0000280	Coarse facial features	2/7	OMIM:615777
5831	PYCR1	HP:0000272	Malar flattening	-	OMIM:612940
5831	PYCR1	HP:0000272	Malar flattening	HP:0040283	ORPHA:2078
5831	PYCR1	HP:0002827	Hip dislocation	15/22	OMIM:614438
5831	PYCR1	HP:0002827	Hip dislocation	3/7	OMIM:615777
5831	PYCR1	HP:0002827	Hip dislocation	HP:0040282	ORPHA:2078
5831	PYCR1	HP:0000239	Large fontanelles	1/1	OMIM:614438
5831	PYCR1	HP:0000239	Large fontanelles	3/3	OMIM:612940
5831	PYCR1	HP:0000238	Hydrocephalus	2/4	OMIM:612940
5831	PYCR1	HP:0000252	Microcephaly	4/4	OMIM:612940
5831	PYCR1	HP:0000252	Microcephaly	-	OMIM:615777
5831	PYCR1	HP:0001582	Redundant skin	-	OMIM:612940
5831	PYCR1	HP:0001582	Redundant skin	HP:0040281	ORPHA:2078
5831	PYCR1	HP:0000218	High palate	2/4	OMIM:612940
5831	PYCR1	HP:0000233	Thin vermilion border	1/1	OMIM:614438
5831	PYCR1	HP:0002857	Genu valgum	-	OMIM:131300
5831	PYCR1	HP:0001533	Slender build	-	OMIM:131300
5831	PYCR1	HP:0001508	Failure to thrive	2/2	OMIM:612940
5831	PYCR1	HP:0001511	Intrauterine growth retardation	11/11	OMIM:612940
5831	PYCR1	HP:0001511	Intrauterine growth retardation	18/20	OMIM:614438
5831	PYCR1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5831	PYCR1	HP:0001510	Growth delay	HP:0040282	ORPHA:2078
5831	PYCR1	HP:0007807	Optic nerve compression	-	OMIM:131300
5831	PYCR1	HP:0012368	Flat face	7/7	OMIM:615777
5831	PYCR1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5831	PYCR1	HP:0006487	Bowing of the long bones	-	OMIM:612940
5831	PYCR1	HP:0000365	Hearing impairment	10/67	OMIM:131300
5831	PYCR1	HP:0000358	Posteriorly rotated ears	1/1	OMIM:614438
5831	PYCR1	HP:0000369	Low-set ears	2/4	OMIM:612940
5831	PYCR1	HP:0000343	Long philtrum	1/3	OMIM:612940
5831	PYCR1	HP:0000343	Long philtrum	1/7	OMIM:615777
5831	PYCR1	HP:0011001	Increased bone mineral density	-	OMIM:131300
5831	PYCR1	HP:0000337	Broad forehead	5/5	OMIM:612940
5831	PYCR1	HP:0000316	Hypertelorism	2/3	OMIM:612940
5831	PYCR1	HP:0000316	Hypertelorism	1/1	OMIM:614438
5831	PYCR1	HP:0000311	Round face	2/7	OMIM:615777
5831	PYCR1	HP:0002987	Elbow flexion contracture	1/1	OMIM:614438
5831	PYCR1	HP:0000325	Triangular face	-	OMIM:614438
5831	PYCR1	HP:0000325	Triangular face	6/10	OMIM:612940
5831	PYCR1	HP:0002953	Vertebral compression fracture	HP:0040281	ORPHA:2078
5831	PYCR1	HP:0002970	Genu varum	-	OMIM:615777
5831	PYCR1	HP:0000303	Mandibular prognathia	-	OMIM:131300
5831	PYCR1	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:2078
5831	PYCR1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5831	PYCR1	HP:0000482	Microcornea	HP:0040283	ORPHA:2078
5831	PYCR1	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:2078
5831	PYCR1	HP:0000494	Downslanted palpebral fissures	2/3	OMIM:612940
5831	PYCR1	HP:0000490	Deeply set eye	1/1	OMIM:614438
5831	PYCR1	HP:0000490	Deeply set eye	4/5	OMIM:612940
5831	PYCR1	HP:0000460	Narrow nose	4/4	OMIM:612940
5831	PYCR1	HP:0000470	Short neck	1/7	OMIM:615777
5831	PYCR1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5831	PYCR1	HP:0001763	Pes planus	1/1	OMIM:614438
5831	PYCR1	HP:0001763	Pes planus	5/5	OMIM:612940
5831	PYCR1	HP:0001763	Pes planus	1/7	OMIM:615777
5831	PYCR1	HP:0001763	Pes planus	HP:0040283	ORPHA:2078
5831	PYCR1	HP:0000418	Narrow nasal ridge	4/4	OMIM:612940
5831	PYCR1	HP:0000418	Narrow nasal ridge	1/1	OMIM:614438
5831	PYCR1	HP:0000414	Bulbous nose	1/2	OMIM:612940
5831	PYCR1	HP:0000411	Protruding ear	3/3	OMIM:612940
5831	PYCR1	HP:0001762	Talipes equinovarus	1/1	OMIM:612940
5831	PYCR1	HP:0000430	Underdeveloped nasal alae	1/1	OMIM:614438
5831	PYCR1	HP:0000518	Cataract	2/22	OMIM:614438
5831	PYCR1	HP:0001840	Metatarsus adductus	-	OMIM:615777
5831	PYCR1	HP:0000520	Proptosis	2/4	OMIM:131300
5831	PYCR1	HP:0000520	Proptosis	7/7	OMIM:615777
5831	PYCR1	HP:0001822	Hallux valgus	1/1	OMIM:612940
5831	PYCR1	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:2078
5831	PYCR1	HP:0000501	Glaucoma	1/1	OMIM:614438
5831	PYCR1	HP:0000592	Blue sclerae	1/1	OMIM:614438
5831	PYCR1	HP:0000592	Blue sclerae	5/11	OMIM:612940
5831	PYCR1	HP:0000592	Blue sclerae	2/7	OMIM:615777
5831	PYCR1	HP:0011220	Prominent forehead	1/1	OMIM:614438
5831	PYCR1	HP:0011220	Prominent forehead	5/5	OMIM:612940
5831	PYCR1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5831	PYCR1	HP:0001883	Talipes	HP:0040283	ORPHA:2078
5831	PYCR1	HP:0012514	Lower limb pain	4/4	OMIM:131300
5832	ALDH18A1	HP:0001181	Adducted thumb	5/8	OMIM:616603
5832	ALDH18A1	HP:0001181	Adducted thumb	-	OMIM:219150
5832	ALDH18A1	HP:0001181	Adducted thumb	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0002495	Impaired vibratory sensation	3/16	OMIM:601162
5832	ALDH18A1	HP:0002493	Upper motor neuron dysfunction	HP:0040282	ORPHA:447757
5832	ALDH18A1	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:447757
5832	ALDH18A1	HP:0002464	Spastic dysarthria	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0002460	Distal muscle weakness	15/16	OMIM:601162
5832	ALDH18A1	HP:0002476	Primitive reflex	HP:0040283	ORPHA:447760
5832	ALDH18A1	HP:0002445	Tetraplegia	3/6	OMIM:616586
5832	ALDH18A1	HP:0002445	Tetraplegia	HP:0040282	ORPHA:447760
5832	ALDH18A1	HP:0025167	Fragmented elastic fibers in the dermis	HP:0040281	ORPHA:90348
5832	ALDH18A1	HP:0500163	Hypoornithinemia	2/6	OMIM:219150
5832	ALDH18A1	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:447753
5832	ALDH18A1	HP:0500139	Hypoprolinemia	2/6	OMIM:219150
5832	ALDH18A1	HP:0007240	Progressive gait ataxia	HP:0040282	ORPHA:447757
5832	ALDH18A1	HP:0003745	Sporadic	-	OMIM:219150
5832	ALDH18A1	HP:0002425	Anarthria	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0003700	Generalized amyotrophy	-	OMIM:601162
5832	ALDH18A1	HP:0007299	Dysfunction of lateral corticospinal tracts	-	OMIM:601162
5832	ALDH18A1	HP:0001270	Motor delay	HP:0040282	ORPHA:447760
5832	ALDH18A1	HP:0001270	Motor delay	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0001288	Gait disturbance	6/6	OMIM:616586
5832	ALDH18A1	HP:0001288	Gait disturbance	-	OMIM:601162
5832	ALDH18A1	HP:0001250	Seizure	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0001250	Seizure	-	OMIM:219150
5832	ALDH18A1	HP:0001252	Hypotonia	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0001252	Hypotonia	HP:0040283	ORPHA:447757
5832	ALDH18A1	HP:0001252	Hypotonia	6/6	OMIM:219150
5832	ALDH18A1	HP:0001252	Hypotonia	7/7	OMIM:616603
5832	ALDH18A1	HP:0001249	Intellectual disability	6/6	OMIM:616586
5832	ALDH18A1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:35664
5832	ALDH18A1	HP:0001249	Intellectual disability	-	OMIM:219150
5832	ALDH18A1	HP:0001260	Dysarthria	-	OMIM:616586
5832	ALDH18A1	HP:0001260	Dysarthria	5/15	OMIM:601162
5832	ALDH18A1	HP:0001260	Dysarthria	HP:0040282	ORPHA:447760
5832	ALDH18A1	HP:0001263	Global developmental delay	6/6	OMIM:616586
5832	ALDH18A1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:35664
5832	ALDH18A1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:447760
5832	ALDH18A1	HP:0001263	Global developmental delay	6/6	OMIM:219150
5832	ALDH18A1	HP:0001263	Global developmental delay	8/8	OMIM:616603
5832	ALDH18A1	HP:0001258	Spastic paraplegia	6/6	OMIM:616586
5832	ALDH18A1	HP:0001258	Spastic paraplegia	-	OMIM:601162
5832	ALDH18A1	HP:0001257	Spasticity	6/6	OMIM:616586
5832	ALDH18A1	HP:0001257	Spasticity	HP:0040281	ORPHA:447760
5832	ALDH18A1	HP:0002572	Episodic vomiting	2/2	OMIM:219150
5832	ALDH18A1	HP:0100857	Flat sella turcica	1/8	OMIM:616603
5832	ALDH18A1	HP:0007394	Prominent superficial blood vessels	4/4	OMIM:219150
5832	ALDH18A1	HP:0007371	Corpus callosum atrophy	1/6	OMIM:616586
5832	ALDH18A1	HP:0007371	Corpus callosum atrophy	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0007371	Corpus callosum atrophy	1/16	OMIM:601162
5832	ALDH18A1	HP:0007371	Corpus callosum atrophy	HP:0040283	ORPHA:447760
5832	ALDH18A1	HP:0031064	Impaired continence	HP:0040282	ORPHA:447760
5832	ALDH18A1	HP:0007350	Upper limb hyperreflexia	HP:0040282	ORPHA:447757
5832	ALDH18A1	HP:0007350	Upper limb hyperreflexia	HP:0040281	ORPHA:447753
5832	ALDH18A1	HP:0007350	Upper limb hyperreflexia	HP:0040281	ORPHA:447760
5832	ALDH18A1	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:447760
5832	ALDH18A1	HP:0002527	Falls	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0002505	Loss of ambulation	HP:0040282	ORPHA:447757
5832	ALDH18A1	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0001374	Congenital hip dislocation	-	OMIM:219150
5832	ALDH18A1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:90348
5832	ALDH18A1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:35664
5832	ALDH18A1	HP:0001382	Joint hypermobility	2/2	OMIM:219150
5832	ALDH18A1	HP:0001382	Joint hypermobility	8/8	OMIM:616603
5832	ALDH18A1	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:90348
5832	ALDH18A1	HP:0000023	Inguinal hernia	-	OMIM:219150
5832	ALDH18A1	HP:0000020	Urinary incontinence	4/6	OMIM:616586
5832	ALDH18A1	HP:0000020	Urinary incontinence	2/16	OMIM:601162
5832	ALDH18A1	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0001348	Brisk reflexes	3/8	OMIM:616603
5832	ALDH18A1	HP:0001348	Brisk reflexes	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0002677	Small foramen magnum	HP:0040284	ORPHA:90348
5832	ALDH18A1	HP:0002677	Small foramen magnum	2/8	OMIM:616603
5832	ALDH18A1	HP:0000016	Urinary retention	1/6	OMIM:616586
5832	ALDH18A1	HP:0000016	Urinary retention	HP:0040283	ORPHA:447760
5832	ALDH18A1	HP:0001347	Hyperreflexia	5/6	OMIM:616586
5832	ALDH18A1	HP:0001347	Hyperreflexia	-	OMIM:601162
5832	ALDH18A1	HP:0001347	Hyperreflexia	4/4	OMIM:219150
5832	ALDH18A1	HP:0000028	Cryptorchidism	HP:0040283	OMIM:219150
5832	ALDH18A1	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0008897	Postnatal growth retardation	7/8	OMIM:616603
5832	ALDH18A1	HP:0007522	Increased number of skin folds	HP:0040281	ORPHA:90348
5832	ALDH18A1	HP:0007495	Prematurely aged appearance	HP:0040282	ORPHA:90348
5832	ALDH18A1	HP:0001328	Specific learning disability	-	OMIM:601162
5832	ALDH18A1	HP:0001324	Muscle weakness	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:447760
5832	ALDH18A1	HP:0001344	Absent speech	1/6	OMIM:616586
5832	ALDH18A1	HP:0001344	Absent speech	4/4	OMIM:219150
5832	ALDH18A1	HP:0000012	Urinary urgency	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0000012	Urinary urgency	4/16	OMIM:601162
5832	ALDH18A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616586
5832	ALDH18A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:219150
5832	ALDH18A1	HP:0001337	Tremor	HP:0040283	OMIM:616586
5832	ALDH18A1	HP:0001337	Tremor	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:601162
5832	ALDH18A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616603
5832	ALDH18A1	HP:0002650	Scoliosis	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0002650	Scoliosis	-	OMIM:219150
5832	ALDH18A1	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0002645	Wormian bones	2/7	OMIM:616603
5832	ALDH18A1	HP:0002645	Wormian bones	-	OMIM:219150
5832	ALDH18A1	HP:0002645	Wormian bones	HP:0040284	ORPHA:90348
5832	ALDH18A1	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:601162
5832	ALDH18A1	HP:0001498	Carpal bone hypoplasia	-	OMIM:601162
5832	ALDH18A1	HP:0000160	Narrow mouth	-	OMIM:219150
5832	ALDH18A1	HP:0000122	Unilateral renal agenesis	HP:0040283	OMIM:616603
5832	ALDH18A1	HP:0000122	Unilateral renal agenesis	HP:0040284	ORPHA:90348
5832	ALDH18A1	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:447760
5832	ALDH18A1	HP:0002750	Delayed skeletal maturation	-	OMIM:601162
5832	ALDH18A1	HP:0002750	Delayed skeletal maturation	-	OMIM:219150
5832	ALDH18A1	HP:0002020	Gastroesophageal reflux	-	OMIM:601162
5832	ALDH18A1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:447757
5832	ALDH18A1	HP:0002036	Hiatus hernia	-	OMIM:601162
5832	ALDH18A1	HP:0005989	Redundant neck skin	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0002013	Vomiting	-	OMIM:601162
5832	ALDH18A1	HP:0002013	Vomiting	HP:0040284	ORPHA:90348
5832	ALDH18A1	HP:0002007	Frontal bossing	-	OMIM:219150
5832	ALDH18A1	HP:0005961	Hypoargininemia	2/6	OMIM:219150
5832	ALDH18A1	HP:0002097	Emphysema	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0002066	Gait ataxia	4/15	OMIM:601162
5832	ALDH18A1	HP:0003394	Muscle spasm	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0002064	Spastic gait	14/15	OMIM:601162
5832	ALDH18A1	HP:0002064	Spastic gait	HP:0040282	ORPHA:447757
5832	ALDH18A1	HP:0002064	Spastic gait	HP:0040281	ORPHA:447753
5832	ALDH18A1	HP:0002064	Spastic gait	HP:0040282	ORPHA:447760
5832	ALDH18A1	HP:0002061	Lower limb spasticity	-	OMIM:601162
5832	ALDH18A1	HP:0100512	Decreased circulating vitamin D concentration	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0100515	Pollakisuria	HP:0040283	ORPHA:447760
5832	ALDH18A1	HP:0100515	Pollakisuria	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:447757
5832	ALDH18A1	HP:0003487	Babinski sign	5/6	OMIM:616586
5832	ALDH18A1	HP:0003487	Babinski sign	12/16	OMIM:601162
5832	ALDH18A1	HP:0003487	Babinski sign	HP:0040282	ORPHA:447757
5832	ALDH18A1	HP:0003487	Babinski sign	HP:0040282	ORPHA:447753
5832	ALDH18A1	HP:0003487	Babinski sign	HP:0040281	ORPHA:447760
5832	ALDH18A1	HP:0002120	Cerebral cortical atrophy	1/6	OMIM:616586
5832	ALDH18A1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:447760
5832	ALDH18A1	HP:0002127	Abnormal upper motor neuron morphology	-	OMIM:601162
5832	ALDH18A1	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0003438	Absent Achilles reflex	HP:0040283	ORPHA:447757
5832	ALDH18A1	HP:0003438	Absent Achilles reflex	HP:0040283	ORPHA:447760
5832	ALDH18A1	HP:0003419	Low back pain	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0002174	Postural tremor	HP:0040282	ORPHA:447757
5832	ALDH18A1	HP:0002174	Postural tremor	HP:0040282	ORPHA:447760
5832	ALDH18A1	HP:0002172	Postural instability	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0010537	Wide cranial sutures	-	OMIM:219150
5832	ALDH18A1	HP:0003593	Infantile onset	4/6	OMIM:616586
5832	ALDH18A1	HP:0003593	Infantile onset	6/6	OMIM:219150
5832	ALDH18A1	HP:0003577	Congenital onset	8/8	OMIM:616603
5832	ALDH18A1	HP:0003572	Low plasma citrulline	2/2	OMIM:219150
5832	ALDH18A1	HP:0002256	Small bowel diverticula	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0100790	Hernia	6/8	OMIM:616603
5832	ALDH18A1	HP:0100790	Hernia	HP:0040282	ORPHA:90348
5832	ALDH18A1	HP:0002280	Enlarged cisterna magna	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0010674	Abnormal curvature of the vertebral column	HP:0040282	ORPHA:90348
5832	ALDH18A1	HP:0007024	Pseudobulbar paralysis	2/6	OMIM:616586
5832	ALDH18A1	HP:0010648	Dermal translucency	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0010648	Dermal translucency	8/8	OMIM:616603
5832	ALDH18A1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0011968	Feeding difficulties	5/6	OMIM:616603
5832	ALDH18A1	HP:0011950	Bronchiolitis	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0007083	Hyperactive patellar reflex	HP:0040282	ORPHA:447757
5832	ALDH18A1	HP:0002395	Lower limb hyperreflexia	4/4	OMIM:219150
5832	ALDH18A1	HP:0002395	Lower limb hyperreflexia	HP:0040281	ORPHA:447753
5832	ALDH18A1	HP:0002395	Lower limb hyperreflexia	16/16	OMIM:601162
5832	ALDH18A1	HP:0002395	Lower limb hyperreflexia	HP:0040281	ORPHA:447760
5832	ALDH18A1	HP:0003693	Distal amyotrophy	4/4	OMIM:219150
5832	ALDH18A1	HP:0002371	Loss of speech	HP:0040283	ORPHA:447760
5832	ALDH18A1	HP:0002344	Progressive neurologic deterioration	HP:0040282	ORPHA:447757
5832	ALDH18A1	HP:0003676	Progressive	-	OMIM:616586
5832	ALDH18A1	HP:0002342	Intellectual disability, moderate	2/2	OMIM:219150
5832	ALDH18A1	HP:0002354	Memory impairment	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0003677	Slowly progressive	-	OMIM:601162
5832	ALDH18A1	HP:0002322	Resting tremor	1/16	OMIM:601162
5832	ALDH18A1	HP:0010832	Abnormality of pain sensation	HP:0040282	ORPHA:447753
5832	ALDH18A1	HP:0100678	Premature skin wrinkling	HP:0040281	ORPHA:90348
5832	ALDH18A1	HP:0100678	Premature skin wrinkling	8/8	OMIM:616603
5832	ALDH18A1	HP:0001084	Corneal arcus	-	OMIM:219150
5832	ALDH18A1	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0002305	Athetosis	2/4	OMIM:219150
5832	ALDH18A1	HP:0004938	Tortuous cerebral arteries	4/8	OMIM:616603
5832	ALDH18A1	HP:0003621	Juvenile onset	2/6	OMIM:616586
5832	ALDH18A1	HP:0003621	Juvenile onset	-	OMIM:601162
5832	ALDH18A1	HP:0004942	Aortic aneurysm	HP:0040282	ORPHA:90348
5832	ALDH18A1	HP:0007178	Motor polyneuropathy	HP:0040282	ORPHA:447757
5832	ALDH18A1	HP:0007178	Motor polyneuropathy	3/4	OMIM:601162
5832	ALDH18A1	HP:0006827	Atrophy of the spinal cord	HP:0040283	ORPHA:447757
5832	ALDH18A1	HP:0011397	Abnormality of the dorsal column of the spinal cord	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0006895	Lower limb hypertonia	HP:0040282	ORPHA:447753
5832	ALDH18A1	HP:0006886	Impaired distal vibration sensation	2/3	OMIM:616586
5832	ALDH18A1	HP:0000639	Nystagmus	2/16	OMIM:601162
5832	ALDH18A1	HP:0000601	Hypotelorism	-	OMIM:219150
5832	ALDH18A1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	OMIM:616586
5832	ALDH18A1	HP:0001987	Hyperammonemia	2/6	OMIM:219150
5832	ALDH18A1	HP:0001999	Abnormal facial shape	-	OMIM:616586
5832	ALDH18A1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:90348
5832	ALDH18A1	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:447760
5832	ALDH18A1	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0004322	Short stature	-	OMIM:616586
5832	ALDH18A1	HP:0004322	Short stature	HP:0040283	ORPHA:447760
5832	ALDH18A1	HP:0004322	Short stature	-	OMIM:601162
5832	ALDH18A1	HP:0004322	Short stature	3/3	OMIM:219150
5832	ALDH18A1	HP:0005667	Os odontoideum	1/8	OMIM:616603
5832	ALDH18A1	HP:0006938	Impaired vibration sensation at ankles	HP:0040283	ORPHA:447760
5832	ALDH18A1	HP:0031993	Hoffmann sign	8/9	OMIM:601162
5832	ALDH18A1	HP:0004373	Focal dystonia	HP:0040283	ORPHA:447757
5832	ALDH18A1	HP:0000767	Pectus excavatum	-	OMIM:219150
5832	ALDH18A1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:447760
5832	ALDH18A1	HP:0000726	Dementia	HP:0040283	ORPHA:447757
5832	ALDH18A1	HP:0000726	Dementia	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0000729	Autistic behavior	HP:0040284	ORPHA:90348
5832	ALDH18A1	HP:0000729	Autistic behavior	1/3	OMIM:616603
5832	ALDH18A1	HP:0000709	Psychosis	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0011462	Young adult onset	-	OMIM:601162
5832	ALDH18A1	HP:0003202	Skeletal muscle atrophy	4/6	OMIM:616586
5832	ALDH18A1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:447760
5832	ALDH18A1	HP:0000974	Hyperextensible skin	2/2	OMIM:219150
5832	ALDH18A1	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:90348
5832	ALDH18A1	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:35664
5832	ALDH18A1	HP:0000973	Cutis laxa	8/8	OMIM:616603
5832	ALDH18A1	HP:0000973	Cutis laxa	4/4	OMIM:219150
5832	ALDH18A1	HP:0000973	Cutis laxa	HP:0040281	ORPHA:90348
5832	ALDH18A1	HP:0000963	Thin skin	-	OMIM:219150
5832	ALDH18A1	HP:0000938	Osteopenia	HP:0040284	ORPHA:90348
5832	ALDH18A1	HP:0000938	Osteopenia	3/7	OMIM:616603
5832	ALDH18A1	HP:0008070	Sparse hair	-	OMIM:219150
5832	ALDH18A1	HP:0000270	Delayed cranial suture closure	4/7	OMIM:616603
5832	ALDH18A1	HP:0000270	Delayed cranial suture closure	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0002816	Genu recurvatum	HP:0040284	ORPHA:90348
5832	ALDH18A1	HP:0002827	Hip dislocation	3/4	OMIM:219150
5832	ALDH18A1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0002827	Hip dislocation	5/7	OMIM:616603
5832	ALDH18A1	HP:0000239	Large fontanelles	-	OMIM:219150
5832	ALDH18A1	HP:0000252	Microcephaly	4/6	OMIM:616586
5832	ALDH18A1	HP:0000252	Microcephaly	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0000252	Microcephaly	HP:0040283	ORPHA:447760
5832	ALDH18A1	HP:0000252	Microcephaly	5/8	OMIM:616603
5832	ALDH18A1	HP:0001582	Redundant skin	HP:0040281	ORPHA:90348
5832	ALDH18A1	HP:0000248	Brachycephaly	-	OMIM:219150
5832	ALDH18A1	HP:0001537	Umbilical hernia	-	OMIM:219150
5832	ALDH18A1	HP:0001508	Failure to thrive	6/6	OMIM:219150
5832	ALDH18A1	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:447760
5832	ALDH18A1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0001511	Intrauterine growth retardation	-	OMIM:219150
5832	ALDH18A1	HP:0001511	Intrauterine growth retardation	8/8	OMIM:616603
5832	ALDH18A1	HP:0001510	Growth delay	-	OMIM:616586
5832	ALDH18A1	HP:0001510	Growth delay	HP:0040282	ORPHA:447760
5832	ALDH18A1	HP:0000369	Low-set ears	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0000369	Low-set ears	-	OMIM:219150
5832	ALDH18A1	HP:0000369	Low-set ears	8/8	OMIM:616603
5832	ALDH18A1	HP:0012330	Pyelonephritis	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0000337	Broad forehead	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0000337	Broad forehead	8/8	OMIM:616603
5832	ALDH18A1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0000316	Hypertelorism	-	OMIM:219150
5832	ALDH18A1	HP:0001659	Aortic regurgitation	HP:0040283	OMIM:616603
5832	ALDH18A1	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:90348
5832	ALDH18A1	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:447757
5832	ALDH18A1	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:90348
5832	ALDH18A1	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0000325	Triangular face	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0000325	Triangular face	8/8	OMIM:616603
5832	ALDH18A1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0007957	Corneal opacity	8/8	OMIM:616603
5832	ALDH18A1	HP:0007957	Corneal opacity	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0006698	Dilatation of the ventricular cavity	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0000400	Macrotia	-	OMIM:219150
5832	ALDH18A1	HP:0000486	Strabismus	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0000486	Strabismus	-	OMIM:219150
5832	ALDH18A1	HP:0000486	Strabismus	2/8	OMIM:616603
5832	ALDH18A1	HP:0001763	Pes planus	HP:0040284	ORPHA:90348
5832	ALDH18A1	HP:0000418	Narrow nasal ridge	-	OMIM:219150
5832	ALDH18A1	HP:0000411	Protruding ear	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0000411	Protruding ear	8/8	OMIM:616603
5832	ALDH18A1	HP:0001762	Talipes equinovarus	HP:0040284	ORPHA:90348
5832	ALDH18A1	HP:0001762	Talipes equinovarus	-	OMIM:219150
5832	ALDH18A1	HP:0001762	Talipes equinovarus	3/8	OMIM:616603
5832	ALDH18A1	HP:0001761	Pes cavus	7/16	OMIM:601162
5832	ALDH18A1	HP:0001761	Pes cavus	HP:0040282	ORPHA:447757
5832	ALDH18A1	HP:0001761	Pes cavus	HP:0040282	ORPHA:447753
5832	ALDH18A1	HP:0000518	Cataract	1/6	OMIM:616586
5832	ALDH18A1	HP:0000518	Cataract	2/16	OMIM:601162
5832	ALDH18A1	HP:0000518	Cataract	HP:0040281	ORPHA:35664
5832	ALDH18A1	HP:0000518	Cataract	3/6	OMIM:219150
5832	ALDH18A1	HP:0000519	Developmental cataract	6/8	OMIM:616603
5832	ALDH18A1	HP:0000519	Developmental cataract	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0000519	Developmental cataract	HP:0040283	ORPHA:447757
5832	ALDH18A1	HP:0000519	Developmental cataract	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0000508	Ptosis	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0011220	Prominent forehead	-	OMIM:219150
5832	ALDH18A1	HP:0011220	Prominent forehead	HP:0040283	ORPHA:90348
5832	ALDH18A1	HP:0011220	Prominent forehead	8/8	OMIM:616603
5832	ALDH18A1	HP:0001884	Talipes calcaneovalgus	HP:0040284	ORPHA:90348
5832	ALDH18A1	HP:0012514	Lower limb pain	HP:0040283	ORPHA:447753
5832	ALDH18A1	HP:0000545	Myopia	-	OMIM:219150
5833	PCYT2	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	4/5	OMIM:618770
5833	PCYT2	HP:0001249	Intellectual disability	5/5	OMIM:618770
5833	PCYT2	HP:0001257	Spasticity	5/5	OMIM:618770
5833	PCYT2	HP:0007359	Focal-onset seizure	2/5	OMIM:618770
5833	PCYT2	HP:0025336	Delayed ability to sit	3/5	OMIM:618770
5833	PCYT2	HP:0001347	Hyperreflexia	5/5	OMIM:618770
5833	PCYT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618770
5833	PCYT2	HP:0007663	Reduced visual acuity	4/4	OMIM:618770
5833	PCYT2	HP:0002059	Cerebral atrophy	4/4	OMIM:618770
5833	PCYT2	HP:0003487	Babinski sign	5/5	OMIM:618770
5833	PCYT2	HP:0002376	Developmental regression	4/4	OMIM:618770
5833	PCYT2	HP:0000639	Nystagmus	4/4	OMIM:618770
5833	PCYT2	HP:0000648	Optic atrophy	1/4	OMIM:618770
5833	PCYT2	HP:0031936	Delayed ability to walk	5/5	OMIM:618770
5833	PCYT2	HP:0000750	Delayed speech and language development	2/5	OMIM:618770
5836	PYGL	HP:0003710	Exercise-induced muscle cramps	HP:0040283	ORPHA:369
5836	PYGL	HP:0001270	Motor delay	HP:0040283	ORPHA:369
5836	PYGL	HP:0001252	Hypotonia	HP:0040283	ORPHA:369
5836	PYGL	HP:0000093	Proteinuria	HP:0040284	ORPHA:369
5836	PYGL	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:369
5836	PYGL	HP:0001394	Cirrhosis	HP:0040284	ORPHA:369
5836	PYGL	HP:0000077	Abnormality of the kidney	HP:0040284	ORPHA:369
5836	PYGL	HP:0008897	Postnatal growth retardation	-	OMIM:232700
5836	PYGL	HP:0000007	Autosomal recessive inheritance	-	OMIM:232700
5836	PYGL	HP:0001402	Hepatocellular carcinoma	HP:0040284	ORPHA:369
5836	PYGL	HP:0030973	Postexertional symptom exacerbation	HP:0040283	ORPHA:369
5836	PYGL	HP:0002155	Hypertriglyceridemia	-	OMIM:232700
5836	PYGL	HP:0002240	Hepatomegaly	4/4	OMIM:232700
5836	PYGL	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:369
5836	PYGL	HP:0011997	Postprandial hyperlactemia	HP:0040284	ORPHA:369
5836	PYGL	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:369
5836	PYGL	HP:0004913	Intermittent lactic acidemia	HP:0040283	ORPHA:369
5836	PYGL	HP:0001943	Hypoglycemia	-	OMIM:232700
5836	PYGL	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:369
5836	PYGL	HP:0001946	Ketosis	HP:0040282	ORPHA:369
5836	PYGL	HP:0004322	Short stature	HP:0040283	ORPHA:369
5836	PYGL	HP:0003077	Hyperlipidemia	-	OMIM:232700
5836	PYGL	HP:0003077	Hyperlipidemia	HP:0040283	ORPHA:369
5836	PYGL	HP:0000737	Irritability	HP:0040283	ORPHA:369
5836	PYGL	HP:0003124	Hypercholesterolemia	-	OMIM:232700
5836	PYGL	HP:0000823	Delayed puberty	HP:0040282	ORPHA:369
5836	PYGL	HP:0003270	Abdominal distention	HP:0040283	ORPHA:369
5836	PYGL	HP:0000939	Osteoporosis	HP:0040282	ORPHA:369
5836	PYGL	HP:0000938	Osteopenia	HP:0040282	ORPHA:369
5836	PYGL	HP:6000979	Reduced hepatic glycogen phosphorylase activity	-	OMIM:232700
5836	PYGL	HP:0001531	Failure to thrive in infancy	-	OMIM:232700
5836	PYGL	HP:0001508	Failure to thrive	HP:0040282	ORPHA:369
5836	PYGL	HP:0001510	Growth delay	HP:0040282	ORPHA:369
5836	PYGL	HP:0006580	Portal fibrosis	HP:0040283	ORPHA:369
5836	PYGL	HP:0006568	Increased hepatic glycogen content	3/3	OMIM:232700
5836	PYGL	HP:0006568	Increased hepatic glycogen content	HP:0040281	ORPHA:369
5836	PYGL	HP:0002910	Elevated circulating hepatic transaminase concentration	4/4	OMIM:232700
5836	PYGL	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:369
5836	PYGL	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:369
5837	PYGM	HP:6000526	Failure to elevate lactate upon ischemic exercise test	-	OMIM:232600
5837	PYGM	HP:0003738	Exercise-induced myalgia	-	OMIM:232600
5837	PYGM	HP:0003738	Exercise-induced myalgia	HP:0040283	ORPHA:368
5837	PYGM	HP:0003710	Exercise-induced muscle cramps	-	OMIM:232600
5837	PYGM	HP:0003710	Exercise-induced muscle cramps	HP:0040282	ORPHA:368
5837	PYGM	HP:0001324	Muscle weakness	HP:0040283	ORPHA:368
5837	PYGM	HP:0001324	Muscle weakness	49/196	OMIM:232600
5837	PYGM	HP:0000007	Autosomal recessive inheritance	-	OMIM:232600
5837	PYGM	HP:0008967	Exercise-induced muscle stiffness	HP:0040283	ORPHA:368
5837	PYGM	HP:0030973	Postexertional symptom exacerbation	HP:0040283	ORPHA:368
5837	PYGM	HP:0040319	Dark urine	-	OMIM:232600
5837	PYGM	HP:0040319	Dark urine	HP:0040282	ORPHA:368
5837	PYGM	HP:0002015	Dysphagia	HP:0040284	ORPHA:368
5837	PYGM	HP:0002149	Hyperuricemia	2/5	OMIM:232600
5837	PYGM	HP:0003596	Middle age onset	1/6	OMIM:232600
5837	PYGM	HP:0003546	Exercise intolerance	-	OMIM:232600
5837	PYGM	HP:0003546	Exercise intolerance	HP:0040281	ORPHA:368
5837	PYGM	HP:6000320	Failure to elevate ammonia on ischemic exercise	3/3	OMIM:232600
5837	PYGM	HP:6000358	Reduced muscle glycogen phosphorylase activity	4/4	OMIM:232600
5837	PYGM	HP:0008305	Exercise-induced myoglobinuria	HP:0040282	ORPHA:368
5837	PYGM	HP:0003652	Recurrent myoglobinuria	HP:0040282	ORPHA:368
5837	PYGM	HP:0003621	Juvenile onset	1/6	OMIM:232600
5837	PYGM	HP:0009073	Progressive proximal muscle weakness	HP:0040283	ORPHA:368
5837	PYGM	HP:0012622	Chronic kidney disease	HP:0040284	ORPHA:368
5837	PYGM	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:368
5837	PYGM	HP:0009051	Increased muscle glycogen content	HP:0040281	ORPHA:368
5837	PYGM	HP:0009045	Exercise-induced rhabdomyolysis	-	OMIM:232600
5837	PYGM	HP:0011463	Childhood onset	4/6	OMIM:232600
5837	PYGM	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:368
5837	PYGM	HP:0003236	Elevated circulating creatine kinase concentration	172/174	OMIM:232600
5837	PYGM	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:368
5837	PYGM	HP:0003201	Rhabdomyolysis	3/6	OMIM:232600
5837	PYGM	HP:0003201	Rhabdomyolysis	HP:0040282	ORPHA:368
5837	PYGM	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:368
5837	PYGM	HP:0012378	Fatigue	HP:0040283	ORPHA:368
5837	PYGM	HP:0005216	Impaired mastication	HP:0040284	ORPHA:368
5837	PYGM	HP:0002913	Myoglobinuria	101/202	OMIM:232600
5837	PYGM	HP:0001649	Tachycardia	HP:0040283	ORPHA:368
5837	PYGM	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:368
5837	PYGM	HP:0030234	Highly elevated creatine kinase	HP:0040281	ORPHA:368
5837	PYGM	HP:0030231	Glycogen accumulation in muscle fiber lysosomes	HP:0040281	ORPHA:368
5859	QARS1	HP:0009879	Simplified gyral pattern	-	OMIM:615760
5859	QARS1	HP:0001252	Hypotonia	3/4	OMIM:615760
5859	QARS1	HP:0001347	Hyperreflexia	HP:0040283	OMIM:615760
5859	QARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615760
5859	QARS1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:615760
5859	QARS1	HP:0002059	Cerebral atrophy	-	OMIM:615760
5859	QARS1	HP:0002119	Ventriculomegaly	-	OMIM:615760
5859	QARS1	HP:0002133	Status epilepticus	1/4	OMIM:615760
5859	QARS1	HP:0003429	CNS hypomyelination	-	OMIM:615760
5859	QARS1	HP:0003593	Infantile onset	1/4	OMIM:615760
5859	QARS1	HP:0003676	Progressive	-	OMIM:615760
5859	QARS1	HP:0003623	Neonatal onset	3/4	OMIM:615760
5859	QARS1	HP:0006855	Cerebellar vermis atrophy	-	OMIM:615760
5859	QARS1	HP:0000601	Hypotelorism	2/3	OMIM:615760
5859	QARS1	HP:0012736	Profound global developmental delay	4/4	OMIM:615760
5859	QARS1	HP:0000286	Epicanthus	2/3	OMIM:615760
5859	QARS1	HP:0000253	Progressive microcephaly	4/4	OMIM:615760
5859	QARS1	HP:0000252	Microcephaly	4/4	OMIM:615760
5859	QARS1	HP:0000218	High palate	2/3	OMIM:615760
5859	QARS1	HP:0000358	Posteriorly rotated ears	1/3	OMIM:615760
5859	QARS1	HP:0000369	Low-set ears	1/3	OMIM:615760
5859	QARS1	HP:0000341	Narrow forehead	-	OMIM:615760
5859	QARS1	HP:0000340	Sloping forehead	2/3	OMIM:615760
5859	QARS1	HP:0005280	Depressed nasal bridge	1/3	OMIM:615760
5859	QARS1	HP:0000431	Wide nasal bridge	2/3	OMIM:615760
5860	QDPR	HP:0003781	Excessive salivation	-	OMIM:261630
5860	QDPR	HP:0001276	Hypertonia	-	OMIM:261630
5860	QDPR	HP:0001250	Seizure	-	OMIM:261630
5860	QDPR	HP:0001252	Hypotonia	-	OMIM:261630
5860	QDPR	HP:0001249	Intellectual disability	HP:0040281	ORPHA:226
5860	QDPR	HP:0001249	Intellectual disability	-	OMIM:261630
5860	QDPR	HP:0001266	Choreoathetosis	-	OMIM:261630
5860	QDPR	HP:0001263	Global developmental delay	HP:0040281	ORPHA:226
5860	QDPR	HP:0001263	Global developmental delay	20/20	OMIM:261630
5860	QDPR	HP:0002514	Cerebral calcification	-	OMIM:261630
5860	QDPR	HP:0003828	Variable expressivity	-	OMIM:261630
5860	QDPR	HP:0001332	Dystonia	-	OMIM:261630
5860	QDPR	HP:0000007	Autosomal recessive inheritance	-	OMIM:261630
5860	QDPR	HP:0001337	Tremor	-	OMIM:261630
5860	QDPR	HP:0001336	Myoclonus	-	OMIM:261630
5860	QDPR	HP:6000966	Diminished tissue dihydropteridine reductase activity	2/2	OMIM:261630
5860	QDPR	HP:0002015	Dysphagia	HP:0040281	ORPHA:226
5860	QDPR	HP:0002015	Dysphagia	-	OMIM:261630
5860	QDPR	HP:0003593	Infantile onset	-	OMIM:261630
5860	QDPR	HP:0002344	Progressive neurologic deterioration	-	OMIM:261630
5860	QDPR	HP:0004923	Hyperphenylalaninemia	-	OMIM:261630
5860	QDPR	HP:0001954	Recurrent fever	-	OMIM:261630
5860	QDPR	HP:0000737	Irritability	-	OMIM:261630
5860	QDPR	HP:0000252	Microcephaly	HP:0040281	ORPHA:226
5860	QDPR	HP:0000252	Microcephaly	-	OMIM:261630
5873	RAB27A	HP:0001276	Hypertonia	HP:0040283	ORPHA:79477
5873	RAB27A	HP:0001250	Seizure	-	OMIM:607624
5873	RAB27A	HP:0001250	Seizure	HP:0040283	ORPHA:79477
5873	RAB27A	HP:0001257	Spasticity	-	OMIM:607624
5873	RAB27A	HP:0007443	Partial albinism	HP:0040281	ORPHA:79477
5873	RAB27A	HP:0003819	Death in childhood	-	OMIM:607624
5873	RAB27A	HP:0000007	Autosomal recessive inheritance	-	OMIM:607624
5873	RAB27A	HP:0012156	Hemophagocytosis	16/16	OMIM:607624
5873	RAB27A	HP:0012156	Hemophagocytosis	HP:0040281	ORPHA:79477
5873	RAB27A	HP:0001433	Hepatosplenomegaly	1/1	OMIM:607624
5873	RAB27A	HP:0002718	Recurrent bacterial infections	-	OMIM:607624
5873	RAB27A	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:79477
5873	RAB27A	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:79477
5873	RAB27A	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:79477
5873	RAB27A	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:79477
5873	RAB27A	HP:0003593	Infantile onset	11/11	OMIM:607624
5873	RAB27A	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:79477
5873	RAB27A	HP:0002220	Melanin pigment aggregation in hair shafts	16/16	OMIM:607624
5873	RAB27A	HP:0002218	Silver-gray hair	16/16	OMIM:607624
5873	RAB27A	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:79477
5873	RAB27A	HP:0002344	Progressive neurologic deterioration	HP:0040283	OMIM:607624
5873	RAB27A	HP:0001010	Hypopigmentation of the skin	-	OMIM:607624
5873	RAB27A	HP:0001008	Accumulation of melanosomes in melanocytes	-	OMIM:607624
5873	RAB27A	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:79477
5873	RAB27A	HP:0001945	Fever	HP:0040283	ORPHA:79477
5873	RAB27A	HP:0001945	Fever	1/1	OMIM:607624
5873	RAB27A	HP:0003077	Hyperlipidemia	HP:0040282	ORPHA:79477
5873	RAB27A	HP:0000952	Jaundice	HP:0040282	ORPHA:79477
5873	RAB27A	HP:0000967	Petechiae	HP:0040283	ORPHA:79477
5873	RAB27A	HP:0007730	Iris hypopigmentation	HP:0040283	ORPHA:79477
5873	RAB27A	HP:0002972	Reduced delayed hypersensitivity	-	OMIM:607624
5873	RAB27A	HP:0001744	Splenomegaly	HP:0040281	ORPHA:79477
5873	RAB27A	HP:0001876	Pancytopenia	HP:0040281	ORPHA:79477
5873	RAB27A	HP:0001875	Decreased total neutrophil count	HP:0040282	ORPHA:79477
5879	RAC1	HP:0002465	Poor speech	HP:0040282	ORPHA:500159
5879	RAC1	HP:0010942	Echogenic intracardiac focus	1/7	OMIM:617751
5879	RAC1	HP:0001270	Motor delay	HP:0040282	ORPHA:500159
5879	RAC1	HP:0001250	Seizure	3/7	OMIM:617751
5879	RAC1	HP:0001250	Seizure	HP:0040282	ORPHA:500159
5879	RAC1	HP:0001252	Hypotonia	4/7	OMIM:617751
5879	RAC1	HP:0001249	Intellectual disability	7/7	OMIM:617751
5879	RAC1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:500159
5879	RAC1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:500159
5879	RAC1	HP:0002553	Highly arched eyebrow	-	OMIM:617751
5879	RAC1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:500159
5879	RAC1	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:500159
5879	RAC1	HP:0001382	Joint hypermobility	1/7	OMIM:617751
5879	RAC1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:500159
5879	RAC1	HP:0000047	Hypospadias	2/5	OMIM:617751
5879	RAC1	HP:0000047	Hypospadias	HP:0040283	ORPHA:500159
5879	RAC1	HP:0001357	Plagiocephaly	1/7	OMIM:617751
5879	RAC1	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:500159
5879	RAC1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:500159
5879	RAC1	HP:0008872	Feeding difficulties in infancy	3/6	OMIM:617751
5879	RAC1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:500159
5879	RAC1	HP:0001344	Absent speech	1/7	OMIM:617751
5879	RAC1	HP:0001344	Absent speech	HP:0040282	ORPHA:500159
5879	RAC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617751
5879	RAC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
5879	RAC1	HP:0001320	Cerebellar vermis hypoplasia	1/6	OMIM:617751
5879	RAC1	HP:0002650	Scoliosis	HP:0040283	ORPHA:500159
5879	RAC1	HP:0002650	Scoliosis	1/7	OMIM:617751
5879	RAC1	HP:0001321	Cerebellar hypoplasia	-	OMIM:617751
5879	RAC1	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:500159
5879	RAC1	HP:0002619	Varicose veins	-	OMIM:153400
5879	RAC1	HP:0000194	Open mouth	-	OMIM:617751
5879	RAC1	HP:0000194	Open mouth	HP:0040283	ORPHA:500159
5879	RAC1	HP:0000175	Cleft palate	5/39	OMIM:153400
5879	RAC1	HP:0008947	Floppy infant	HP:0040282	ORPHA:500159
5879	RAC1	HP:0002786	Tracheobronchomalacia	1/7	OMIM:617751
5879	RAC1	HP:0002786	Tracheobronchomalacia	HP:0040283	ORPHA:500159
5879	RAC1	HP:0002079	Hypoplasia of the corpus callosum	4/6	OMIM:617751
5879	RAC1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:500159
5879	RAC1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:500159
5879	RAC1	HP:0002126	Polymicrogyria	1/6	OMIM:617751
5879	RAC1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:500159
5879	RAC1	HP:0002198	Dilated fourth ventricle	1/6	OMIM:617751
5879	RAC1	HP:0002195	Dysgenesis of the cerebellar vermis	1/6	OMIM:617751
5879	RAC1	HP:0003593	Infantile onset	1/7	OMIM:617751
5879	RAC1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
5879	RAC1	HP:0009743	Distichiasis	42/42	OMIM:153400
5879	RAC1	HP:0002280	Enlarged cisterna magna	6/12	OMIM:617751
5879	RAC1	HP:0002280	Enlarged cisterna magna	HP:0040283	ORPHA:500159
5879	RAC1	HP:0007033	Cerebellar dysplasia	-	OMIM:617751
5879	RAC1	HP:0007033	Cerebellar dysplasia	HP:0040283	ORPHA:500159
5879	RAC1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:500159
5879	RAC1	HP:0002365	Hypoplasia of the brainstem	2/6	OMIM:617751
5879	RAC1	HP:0002365	Hypoplasia of the brainstem	HP:0040283	ORPHA:500159
5879	RAC1	HP:0002360	Sleep abnormality	1/7	OMIM:617751
5879	RAC1	HP:0001004	Lymphedema	-	OMIM:153400
5879	RAC1	HP:0100658	Cellulitis	2/6	OMIM:153400
5879	RAC1	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:500159
5879	RAC1	HP:0200007	Abnormal size of the palpebral fissures	HP:0040283	ORPHA:500159
5879	RAC1	HP:0009765	Low hanging columella	-	OMIM:617751
5879	RAC1	HP:0009765	Low hanging columella	HP:0040283	ORPHA:500159
5879	RAC1	HP:0003623	Neonatal onset	2/7	OMIM:617751
5879	RAC1	HP:0030515	Moderately reduced visual acuity	HP:0040283	ORPHA:500159
5879	RAC1	HP:0000637	Long palpebral fissure	-	OMIM:617751
5879	RAC1	HP:0000613	Photophobia	10/49	OMIM:153400
5879	RAC1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
5879	RAC1	HP:0000656	Ectropion	2/43	OMIM:153400
5879	RAC1	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:500159
5879	RAC1	HP:0000664	Synophrys	1/7	OMIM:617751
5879	RAC1	HP:0006956	Lateral ventricle dilatation	2/6	OMIM:617751
5879	RAC1	HP:0003086	Acromesomelia	HP:0040283	ORPHA:500159
5879	RAC1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
5879	RAC1	HP:0000752	Hyperactivity	1/7	OMIM:617751
5879	RAC1	HP:0000733	Motor stereotypy	2/7	OMIM:617751
5879	RAC1	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:500159
5879	RAC1	HP:0000729	Autistic behavior	1/7	OMIM:617751
5879	RAC1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:500159
5879	RAC1	HP:0011463	Childhood onset	1/7	OMIM:617751
5879	RAC1	HP:0011461	Fetal onset	3/7	OMIM:617751
5879	RAC1	HP:0012804	Corneal ulceration	-	OMIM:153400
5879	RAC1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:500159
5879	RAC1	HP:0009237	Short 5th finger	HP:0040283	ORPHA:500159
5879	RAC1	HP:0010310	Chylothorax	1/6	OMIM:153400
5879	RAC1	HP:0000964	Eczematoid dermatitis	2/7	OMIM:617751
5879	RAC1	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:500159
5879	RAC1	HP:0011675	Arrhythmia	-	OMIM:153400
5879	RAC1	HP:0000256	Macrocephaly	2/7	OMIM:617751
5879	RAC1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:500159
5879	RAC1	HP:0002808	Kyphosis	2/5	OMIM:153400
5879	RAC1	HP:0000252	Microcephaly	4/7	OMIM:617751
5879	RAC1	HP:0000252	Microcephaly	HP:0040282	ORPHA:500159
5879	RAC1	HP:0001537	Umbilical hernia	1/7	OMIM:617751
5879	RAC1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:500159
5879	RAC1	HP:0000204	Cleft upper lip	-	OMIM:153400
5879	RAC1	HP:0001511	Intrauterine growth retardation	1/7	OMIM:617751
5879	RAC1	HP:0006532	Recurrent pneumonia	1/7	OMIM:617751
5879	RAC1	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:500159
5879	RAC1	HP:0000363	Abnormal earlobe morphology	HP:0040283	ORPHA:500159
5879	RAC1	HP:0000369	Low-set ears	1/7	OMIM:617751
5879	RAC1	HP:0000347	Micrognathia	2/5	OMIM:153400
5879	RAC1	HP:0001647	Bicuspid aortic valve	1/5	OMIM:617751
5879	RAC1	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:500159
5879	RAC1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
5879	RAC1	HP:0001643	Patent ductus arteriosus	1/5	OMIM:617751
5879	RAC1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:500159
5879	RAC1	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:500159
5879	RAC1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
5879	RAC1	HP:0001629	Ventricular septal defect	1/5	OMIM:617751
5879	RAC1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:500159
5879	RAC1	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:500159
5879	RAC1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
5879	RAC1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:500159
5879	RAC1	HP:0000407	Sensorineural hearing impairment	1/7	OMIM:617751
5879	RAC1	HP:0000403	Recurrent otitis media	1/7	OMIM:617751
5879	RAC1	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:500159
5879	RAC1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
5879	RAC1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
5879	RAC1	HP:0000463	Anteverted nares	-	OMIM:617751
5879	RAC1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:500159
5879	RAC1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
5879	RAC1	HP:0000465	Webbed neck	6/43	OMIM:153400
5879	RAC1	HP:0000426	Prominent nasal bridge	-	OMIM:617751
5879	RAC1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:500159
5879	RAC1	HP:0000509	Conjunctivitis	-	OMIM:153400
5879	RAC1	HP:0000508	Ptosis	2/39	OMIM:153400
5879	RAC1	HP:0000568	Microphthalmia	1/6	OMIM:153400
5880	RAC2	HP:0100806	Sepsis	1/3	OMIM:618986
5880	RAC2	HP:0025289	Cervical lymphadenopathy	-	OMIM:618987
5880	RAC2	HP:0410305	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	1/3	OMIM:618986
5880	RAC2	HP:0010976	Decreased total B cell count	3/3	OMIM:618986
5880	RAC2	HP:0010976	Decreased total B cell count	2/2	OMIM:618987
5880	RAC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618987
5880	RAC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618986
5880	RAC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:608203
5880	RAC2	HP:0032434	Delayed umbilical cord separation	1/1	OMIM:608203
5880	RAC2	HP:0032435	Neonatal omphalitis	1/1	OMIM:608203
5880	RAC2	HP:0008940	Generalized lymphadenopathy	1/1	OMIM:618986
5880	RAC2	HP:0002783	Recurrent lower respiratory tract infections	1/1	OMIM:618986
5880	RAC2	HP:0001433	Hepatosplenomegaly	1/1	OMIM:618986
5880	RAC2	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:183707
5880	RAC2	HP:0002110	Bronchiectasis	1/3	OMIM:618986
5880	RAC2	HP:0011897	Increased total neutrophil count	1/1	OMIM:608203
5880	RAC2	HP:0002205	Recurrent respiratory infections	3/3	OMIM:618986
5880	RAC2	HP:0002205	Recurrent respiratory infections	2/2	OMIM:618987
5880	RAC2	HP:0002206	Pulmonary fibrosis	1/1	OMIM:618986
5880	RAC2	HP:0011990	Abnormal neutrophil physiology	HP:0040281	ORPHA:183707
5880	RAC2	HP:0001058	Poor wound healing	HP:0040281	ORPHA:183707
5880	RAC2	HP:0001058	Poor wound healing	1/1	OMIM:608203
5880	RAC2	HP:0001025	Urticaria	1/2	OMIM:618987
5880	RAC2	HP:0100658	Cellulitis	1/3	OMIM:618986
5880	RAC2	HP:0032170	Severe varicella zoster infection	1/1	OMIM:618986
5880	RAC2	HP:0012618	Urachal cyst	1/1	OMIM:608203
5880	RAC2	HP:0001972	Macrocytic anemia	1/1	OMIM:608203
5880	RAC2	HP:0001974	Increased total leukocyte count	1/1	OMIM:608203
5880	RAC2	HP:0001974	Increased total leukocyte count	HP:0040281	ORPHA:183707
5880	RAC2	HP:0004315	Decreased circulating IgG concentration	3/3	OMIM:618986
5880	RAC2	HP:0004315	Decreased circulating IgG concentration	2/2	OMIM:618987
5880	RAC2	HP:0004469	Chronic bronchitis	1/1	OMIM:618986
5880	RAC2	HP:0003203	Decreased neutrophil oxidative burst	1/1	OMIM:608203
5880	RAC2	HP:0040238	Impaired neutrophil chemotaxis	12/12	OMIM:618986
5880	RAC2	HP:0040238	Impaired neutrophil chemotaxis	2/2	OMIM:608203
5880	RAC2	HP:0001531	Failure to thrive in infancy	1/2	OMIM:618987
5880	RAC2	HP:0002840	Lymphadenitis	1/3	OMIM:618986
5880	RAC2	HP:0002850	Decreased circulating total IgM	2/2	OMIM:618987
5880	RAC2	HP:0031382	Decreased anti-CD3/28-induced T-cell proliferation	2/3	OMIM:618986
5880	RAC2	HP:0006510	Chronic pulmonary obstruction	1/1	OMIM:618986
5880	RAC2	HP:0005224	Rectal abscess	1/1	OMIM:608203
5880	RAC2	HP:0006532	Recurrent pneumonia	1/3	OMIM:618986
5880	RAC2	HP:0012312	Decreased total monocyte count	2/3	OMIM:618986
5880	RAC2	HP:0000403	Recurrent otitis media	1/1	OMIM:618986
5880	RAC2	HP:0031545	Abnormally low T cell receptor excision circle level	1/3	OMIM:618986
5880	RAC2	HP:0031545	Abnormally low T cell receptor excision circle level	2/2	OMIM:618987
5880	RAC2	HP:0031545	Abnormally low T cell receptor excision circle level	1/1	OMIM:608203
5880	RAC2	HP:0011108	Recurrent sinusitis	-	OMIM:618986
5880	RAC2	HP:0005403	Decreased total T cell count	3/3	OMIM:618986
5880	RAC2	HP:0005400	Reduction of neutrophil motility	1/1	OMIM:608203
5880	RAC2	HP:0001888	Decreased total lymphocyte count	3/3	OMIM:618986
5880	RAC2	HP:0001882	Decreased total leukocyte count	3/4	OMIM:618986
5880	RAC2	HP:0001876	Pancytopenia	1/3	OMIM:618986
5880	RAC2	HP:0001875	Decreased total neutrophil count	3/3	OMIM:618986
5881	RAC3	HP:0010864	Intellectual disability, severe	5/5	OMIM:618577
5881	RAC3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5881	RAC3	HP:0001293	Cranial nerve compression	-	OMIM:131300
5881	RAC3	HP:0001274	Agenesis of corpus callosum	-	OMIM:618577
5881	RAC3	HP:0001250	Seizure	3/6	OMIM:618577
5881	RAC3	HP:0001252	Hypotonia	2/7	OMIM:615777
5881	RAC3	HP:0001249	Intellectual disability	5/7	OMIM:615777
5881	RAC3	HP:0001263	Global developmental delay	6/6	OMIM:618577
5881	RAC3	HP:0001263	Global developmental delay	-	OMIM:615777
5881	RAC3	HP:0002515	Waddling gait	54/102	OMIM:131300
5881	RAC3	HP:0001382	Joint hypermobility	-	OMIM:615777
5881	RAC3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5881	RAC3	HP:0001357	Plagiocephaly	-	OMIM:618577
5881	RAC3	HP:0000028	Cryptorchidism	1/4	OMIM:618577
5881	RAC3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5881	RAC3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5881	RAC3	HP:0001324	Muscle weakness	40/96	OMIM:131300
5881	RAC3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5881	RAC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5881	RAC3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5881	RAC3	HP:0000006	Autosomal dominant inheritance	-	OMIM:618577
5881	RAC3	HP:0002650	Scoliosis	2/5	OMIM:618577
5881	RAC3	HP:0002650	Scoliosis	12/14	OMIM:131300
5881	RAC3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5881	RAC3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5881	RAC3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5881	RAC3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5881	RAC3	HP:0000175	Cleft palate	2/7	OMIM:615777
5881	RAC3	HP:0011800	Midface retrusion	1/1	OMIM:618577
5881	RAC3	HP:0002079	Hypoplasia of the corpus callosum	11/11	OMIM:618577
5881	RAC3	HP:0003388	Easy fatigability	36/76	OMIM:131300
5881	RAC3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5881	RAC3	HP:0002119	Ventriculomegaly	-	OMIM:618577
5881	RAC3	HP:0011968	Feeding difficulties	4/5	OMIM:618577
5881	RAC3	HP:0003510	Severe short stature	7/7	OMIM:615777
5881	RAC3	HP:0002315	Headache	-	OMIM:131300
5881	RAC3	HP:0004976	Knee dislocation	6/7	OMIM:615777
5881	RAC3	HP:0009803	Short phalanx of finger	-	OMIM:615777
5881	RAC3	HP:0009763	Limb pain	63/92	OMIM:131300
5881	RAC3	HP:0003621	Juvenile onset	-	OMIM:131300
5881	RAC3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5881	RAC3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5881	RAC3	HP:6001056	Out-toeing	-	OMIM:131300
5881	RAC3	HP:0000651	Diplopia	-	OMIM:131300
5881	RAC3	HP:0001956	Truncal obesity	2/7	OMIM:615777
5881	RAC3	HP:0001903	Anemia	HP:0040283	OMIM:131300
5881	RAC3	HP:0010049	Short metacarpal	-	OMIM:615777
5881	RAC3	HP:0000678	Dental crowding	-	OMIM:615777
5881	RAC3	HP:0011320	Unilambdoid synostosis	1/5	OMIM:618577
5881	RAC3	HP:0000670	Carious teeth	-	OMIM:131300
5881	RAC3	HP:0011304	Broad thumb	2/7	OMIM:615777
5881	RAC3	HP:0000668	Hypodontia	-	OMIM:615777
5881	RAC3	HP:0000664	Synophrys	-	OMIM:615777
5881	RAC3	HP:0004396	Poor appetite	-	OMIM:131300
5881	RAC3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5881	RAC3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5881	RAC3	HP:0003049	Ulnar deviation of the wrist	-	OMIM:618577
5881	RAC3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5881	RAC3	HP:0003026	Short long bone	7/7	OMIM:615777
5881	RAC3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5881	RAC3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5881	RAC3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5881	RAC3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5881	RAC3	HP:0000750	Delayed speech and language development	-	OMIM:615777
5881	RAC3	HP:0011461	Fetal onset	7/7	OMIM:615777
5881	RAC3	HP:0000774	Narrow chest	2/7	OMIM:615777
5881	RAC3	HP:0003196	Short nose	1/1	OMIM:618577
5881	RAC3	HP:0000926	Platyspondyly	1/7	OMIM:615777
5881	RAC3	HP:0003180	Flat acetabular roof	-	OMIM:615777
5881	RAC3	HP:0004482	Relative macrocephaly	-	OMIM:615777
5881	RAC3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5881	RAC3	HP:0012815	Hypoplastic female external genitalia	1/1	OMIM:618577
5881	RAC3	HP:0000823	Delayed puberty	-	OMIM:131300
5881	RAC3	HP:0000894	Short clavicles	-	OMIM:615777
5881	RAC3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5881	RAC3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5881	RAC3	HP:0000286	Epicanthus	1/7	OMIM:615777
5881	RAC3	HP:0000280	Coarse facial features	2/7	OMIM:615777
5881	RAC3	HP:0000289	Broad philtrum	-	OMIM:618577
5881	RAC3	HP:0002827	Hip dislocation	3/7	OMIM:615777
5881	RAC3	HP:0030084	Clinodactyly	1/1	OMIM:618577
5881	RAC3	HP:0000238	Hydrocephalus	1/5	OMIM:618577
5881	RAC3	HP:0000252	Microcephaly	-	OMIM:615777
5881	RAC3	HP:0000248	Brachycephaly	-	OMIM:618577
5881	RAC3	HP:0002857	Genu valgum	-	OMIM:131300
5881	RAC3	HP:0001533	Slender build	-	OMIM:131300
5881	RAC3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5881	RAC3	HP:0007807	Optic nerve compression	-	OMIM:131300
5881	RAC3	HP:0012368	Flat face	7/7	OMIM:615777
5881	RAC3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5881	RAC3	HP:0000365	Hearing impairment	10/67	OMIM:131300
5881	RAC3	HP:0000343	Long philtrum	1/1	OMIM:618577
5881	RAC3	HP:0000343	Long philtrum	1/7	OMIM:615777
5881	RAC3	HP:0011001	Increased bone mineral density	-	OMIM:131300
5881	RAC3	HP:0000347	Micrognathia	1/1	OMIM:618577
5881	RAC3	HP:0000316	Hypertelorism	11/11	OMIM:618577
5881	RAC3	HP:0000311	Round face	2/7	OMIM:615777
5881	RAC3	HP:0002970	Genu varum	-	OMIM:615777
5881	RAC3	HP:0000303	Mandibular prognathia	-	OMIM:131300
5881	RAC3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5881	RAC3	HP:0000463	Anteverted nares	1/1	OMIM:618577
5881	RAC3	HP:0000470	Short neck	1/7	OMIM:615777
5881	RAC3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5881	RAC3	HP:0001763	Pes planus	1/7	OMIM:615777
5881	RAC3	HP:0000431	Wide nasal bridge	1/1	OMIM:618577
5881	RAC3	HP:0001840	Metatarsus adductus	-	OMIM:615777
5881	RAC3	HP:0000527	Long eyelashes	1/1	OMIM:618577
5881	RAC3	HP:0000520	Proptosis	2/4	OMIM:131300
5881	RAC3	HP:0000520	Proptosis	1/1	OMIM:618577
5881	RAC3	HP:0000520	Proptosis	7/7	OMIM:615777
5881	RAC3	HP:0000592	Blue sclerae	2/7	OMIM:615777
5881	RAC3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5881	RAC3	HP:0012514	Lower limb pain	4/4	OMIM:131300
5885	RAD21	HP:0001156	Brachydactyly	HP:0040283	ORPHA:502
5885	RAD21	HP:0001156	Brachydactyly	1/2	OMIM:614701
5885	RAD21	HP:0001159	Syndactyly	HP:0040283	OMIM:614701
5885	RAD21	HP:0009928	Thick nasal alae	HP:0040283	ORPHA:502
5885	RAD21	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:199
5885	RAD21	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:199
5885	RAD21	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5885	RAD21	HP:0001293	Cranial nerve compression	-	OMIM:131300
5885	RAD21	HP:0001276	Hypertonia	HP:0040281	ORPHA:199
5885	RAD21	HP:0001250	Seizure	1/3	OMIM:614701
5885	RAD21	HP:0001250	Seizure	HP:0040283	ORPHA:199
5885	RAD21	HP:0002580	Volvulus	HP:0040283	ORPHA:199
5885	RAD21	HP:0001252	Hypotonia	HP:0040283	ORPHA:502
5885	RAD21	HP:0001252	Hypotonia	HP:0040283	ORPHA:199
5885	RAD21	HP:0001252	Hypotonia	2/7	OMIM:615777
5885	RAD21	HP:0001249	Intellectual disability	HP:0040282	ORPHA:502
5885	RAD21	HP:0001249	Intellectual disability	HP:0040281	ORPHA:199
5885	RAD21	HP:0001249	Intellectual disability	5/7	OMIM:615777
5885	RAD21	HP:0002578	Gastroparesis	3/3	OMIM:611376
5885	RAD21	HP:0001263	Global developmental delay	5/5	OMIM:614701
5885	RAD21	HP:0001263	Global developmental delay	-	OMIM:615777
5885	RAD21	HP:0002557	Hypoplastic nipples	HP:0040282	ORPHA:199
5885	RAD21	HP:0002566	Intestinal malrotation	1/2	OMIM:614701
5885	RAD21	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:199
5885	RAD21	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:199
5885	RAD21	HP:0100864	Short femoral neck	1/2	OMIM:614701
5885	RAD21	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:199
5885	RAD21	HP:0002553	Highly arched eyebrow	1/2	OMIM:614701
5885	RAD21	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:199
5885	RAD21	HP:0002515	Waddling gait	54/102	OMIM:131300
5885	RAD21	HP:0000089	Renal hypoplasia	-	OMIM:611376
5885	RAD21	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:199
5885	RAD21	HP:0000059	Hypoplastic labia majora	HP:0040282	ORPHA:199
5885	RAD21	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:199
5885	RAD21	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:502
5885	RAD21	HP:0000076	Vesicoureteral reflux	-	OMIM:611376
5885	RAD21	HP:0001373	Joint dislocation	HP:0040282	ORPHA:502
5885	RAD21	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:199
5885	RAD21	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:502
5885	RAD21	HP:0001387	Joint stiffness	HP:0040282	ORPHA:199
5885	RAD21	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:502
5885	RAD21	HP:0001382	Joint hypermobility	-	OMIM:615777
5885	RAD21	HP:0000047	Hypospadias	HP:0040282	ORPHA:199
5885	RAD21	HP:0002678	Skull asymmetry	1/2	OMIM:614701
5885	RAD21	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5885	RAD21	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:199
5885	RAD21	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5885	RAD21	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199
5885	RAD21	HP:0008850	Severe postnatal growth retardation	HP:0040282	ORPHA:199
5885	RAD21	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5885	RAD21	HP:0001324	Muscle weakness	40/96	OMIM:131300
5885	RAD21	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:502
5885	RAD21	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5885	RAD21	HP:0000007	Autosomal recessive inheritance	-	OMIM:611376
5885	RAD21	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5885	RAD21	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:199
5885	RAD21	HP:0000006	Autosomal dominant inheritance	-	OMIM:614701
5885	RAD21	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5885	RAD21	HP:0002653	Bone pain	HP:0040281	ORPHA:502
5885	RAD21	HP:0002650	Scoliosis	12/14	OMIM:131300
5885	RAD21	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5885	RAD21	HP:0033785	Enamel agenesis	1/2	OMIM:614701
5885	RAD21	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5885	RAD21	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5885	RAD21	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5885	RAD21	HP:0012165	Oligodactyly	HP:0040283	ORPHA:199
5885	RAD21	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:502
5885	RAD21	HP:0001488	Bilateral ptosis	1/2	OMIM:614701
5885	RAD21	HP:0001488	Bilateral ptosis	1/3	OMIM:611376
5885	RAD21	HP:0000176	Submucous cleft hard palate	2/5	OMIM:614701
5885	RAD21	HP:0000175	Cleft palate	HP:0040283	OMIM:614701
5885	RAD21	HP:0000175	Cleft palate	2/7	OMIM:615777
5885	RAD21	HP:0000175	Cleft palate	HP:0040283	ORPHA:199
5885	RAD21	HP:0000174	Abnormal palate morphology	HP:0040283	ORPHA:502
5885	RAD21	HP:0007665	Curly eyelashes	HP:0040281	ORPHA:199
5885	RAD21	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:199
5885	RAD21	HP:0007598	Bilateral single transverse palmar creases	HP:0040283	ORPHA:502
5885	RAD21	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:199
5885	RAD21	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:502
5885	RAD21	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:199
5885	RAD21	HP:0002714	Downturned corners of mouth	HP:0040281	ORPHA:199
5885	RAD21	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:199
5885	RAD21	HP:0002020	Gastroesophageal reflux	2/5	OMIM:614701
5885	RAD21	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:199
5885	RAD21	HP:0004691	2-3 toe syndactyly	2/2	OMIM:614701
5885	RAD21	HP:0002027	Abdominal pain	3/3	OMIM:611376
5885	RAD21	HP:0030996	Megaduodenum	3/3	OMIM:611376
5885	RAD21	HP:0002002	Deep philtrum	HP:0040281	ORPHA:502
5885	RAD21	HP:0003388	Easy fatigability	36/76	OMIM:131300
5885	RAD21	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5885	RAD21	HP:0100580	Barrett esophagus	3/3	OMIM:611376
5885	RAD21	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:199
5885	RAD21	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:502
5885	RAD21	HP:0002119	Ventriculomegaly	1/1	OMIM:614701
5885	RAD21	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:199
5885	RAD21	HP:0009623	Proximal placement of thumb	HP:0040281	ORPHA:199
5885	RAD21	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:199
5885	RAD21	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:199
5885	RAD21	HP:0002270	Abnormality of the autonomic nervous system	-	OMIM:611376
5885	RAD21	HP:0002230	Generalized hirsutism	HP:0040281	ORPHA:199
5885	RAD21	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:502
5885	RAD21	HP:0100771	Hypoperistalsis	3/3	OMIM:611376
5885	RAD21	HP:0100777	Exostoses	-	OMIM:614701
5885	RAD21	HP:0100777	Exostoses	HP:0040281	ORPHA:502
5885	RAD21	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:199
5885	RAD21	HP:0003510	Severe short stature	7/7	OMIM:615777
5885	RAD21	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:199
5885	RAD21	HP:0002315	Headache	-	OMIM:131300
5885	RAD21	HP:0004976	Knee dislocation	6/7	OMIM:615777
5885	RAD21	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:199
5885	RAD21	HP:0009803	Short phalanx of finger	-	OMIM:615777
5885	RAD21	HP:0200055	Small hand	HP:0040281	ORPHA:199
5885	RAD21	HP:0009763	Limb pain	63/92	OMIM:131300
5885	RAD21	HP:0008428	Vertebral clefting	1/2	OMIM:614701
5885	RAD21	HP:0003621	Juvenile onset	-	OMIM:131300
5885	RAD21	HP:0006870	Lobar holoprosencephaly	1/1	OMIM:614701
5885	RAD21	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5885	RAD21	HP:0004209	Clinodactyly of the 5th finger	2/5	OMIM:614701
5885	RAD21	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:199
5885	RAD21	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5885	RAD21	HP:0000639	Nystagmus	HP:0040283	ORPHA:199
5885	RAD21	HP:6001056	Out-toeing	-	OMIM:131300
5885	RAD21	HP:0000651	Diplopia	-	OMIM:131300
5885	RAD21	HP:0001956	Truncal obesity	HP:0040283	ORPHA:199
5885	RAD21	HP:0001956	Truncal obesity	2/7	OMIM:615777
5885	RAD21	HP:0000601	Hypotelorism	2/4	OMIM:614701
5885	RAD21	HP:0001903	Anemia	HP:0040283	OMIM:131300
5885	RAD21	HP:0010049	Short metacarpal	-	OMIM:615777
5885	RAD21	HP:0010034	Short 1st metacarpal	HP:0040281	ORPHA:199
5885	RAD21	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:199
5885	RAD21	HP:0000678	Dental crowding	-	OMIM:615777
5885	RAD21	HP:0000687	Widely spaced teeth	HP:0040281	ORPHA:199
5885	RAD21	HP:0000670	Carious teeth	-	OMIM:131300
5885	RAD21	HP:0011304	Broad thumb	2/7	OMIM:615777
5885	RAD21	HP:0000668	Hypodontia	-	OMIM:615777
5885	RAD21	HP:0000667	Phthisis bulbi	HP:0040282	ORPHA:199
5885	RAD21	HP:0000664	Synophrys	3/5	OMIM:614701
5885	RAD21	HP:0000664	Synophrys	-	OMIM:615777
5885	RAD21	HP:0000664	Synophrys	HP:0040281	ORPHA:199
5885	RAD21	HP:0004322	Short stature	-	OMIM:614701
5885	RAD21	HP:0004322	Short stature	HP:0040281	ORPHA:502
5885	RAD21	HP:0004322	Short stature	HP:0040281	ORPHA:199
5885	RAD21	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:199
5885	RAD21	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:502
5885	RAD21	HP:0004389	Intestinal pseudo-obstruction	3/3	OMIM:611376
5885	RAD21	HP:0004396	Poor appetite	-	OMIM:131300
5885	RAD21	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5885	RAD21	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5885	RAD21	HP:0003042	Elbow dislocation	HP:0040282	ORPHA:199
5885	RAD21	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5885	RAD21	HP:0003026	Short long bone	7/7	OMIM:615777
5885	RAD21	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5885	RAD21	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5885	RAD21	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:199
5885	RAD21	HP:0000768	Pectus carinatum	1/2	OMIM:614701
5885	RAD21	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5885	RAD21	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5885	RAD21	HP:0000739	Anxiety	HP:0040282	ORPHA:199
5885	RAD21	HP:0000750	Delayed speech and language development	-	OMIM:615777
5885	RAD21	HP:0000717	Autism	HP:0040283	ORPHA:199
5885	RAD21	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:199
5885	RAD21	HP:0011461	Fetal onset	1/1	OMIM:614701
5885	RAD21	HP:0011461	Fetal onset	7/7	OMIM:615777
5885	RAD21	HP:0000774	Narrow chest	2/7	OMIM:615777
5885	RAD21	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:199
5885	RAD21	HP:0009118	Aplasia/Hypoplasia of the mandible	HP:0040282	ORPHA:502
5885	RAD21	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:199
5885	RAD21	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040283	ORPHA:502
5885	RAD21	HP:0003196	Short nose	1/3	OMIM:614701
5885	RAD21	HP:0003196	Short nose	HP:0040281	ORPHA:199
5885	RAD21	HP:0000926	Platyspondyly	1/7	OMIM:615777
5885	RAD21	HP:0003180	Flat acetabular roof	-	OMIM:615777
5885	RAD21	HP:0004482	Relative macrocephaly	-	OMIM:615777
5885	RAD21	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5885	RAD21	HP:0000823	Delayed puberty	-	OMIM:131300
5885	RAD21	HP:0000823	Delayed puberty	HP:0040283	ORPHA:199
5885	RAD21	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:199
5885	RAD21	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	HP:0040281	ORPHA:502
5885	RAD21	HP:0000894	Short clavicles	-	OMIM:615777
5885	RAD21	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5885	RAD21	HP:0010300	Abnormally low-pitched voice	HP:0040281	ORPHA:199
5885	RAD21	HP:0000954	Single transverse palmar crease	1/2	OMIM:614701
5885	RAD21	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5885	RAD21	HP:0000965	Cutis marmorata	HP:0040282	ORPHA:199
5885	RAD21	HP:0000965	Cutis marmorata	1/2	OMIM:614701
5885	RAD21	HP:0011682	Perimembranous ventricular septal defect	1/3	OMIM:611376
5885	RAD21	HP:0000286	Epicanthus	1/7	OMIM:615777
5885	RAD21	HP:0000280	Coarse facial features	2/7	OMIM:615777
5885	RAD21	HP:0000294	Low anterior hairline	HP:0040281	ORPHA:199
5885	RAD21	HP:0002812	Coxa vara	1/2	OMIM:614701
5885	RAD21	HP:0002827	Hip dislocation	3/7	OMIM:615777
5885	RAD21	HP:0002827	Hip dislocation	HP:0040283	ORPHA:199
5885	RAD21	HP:0005039	Multiple long-bone exostoses	HP:0040281	ORPHA:502
5885	RAD21	HP:0000252	Microcephaly	4/4	OMIM:614701
5885	RAD21	HP:0000252	Microcephaly	HP:0040283	ORPHA:502
5885	RAD21	HP:0000252	Microcephaly	HP:0040281	ORPHA:199
5885	RAD21	HP:0000252	Microcephaly	-	OMIM:615777
5885	RAD21	HP:0001582	Redundant skin	HP:0040282	ORPHA:502
5885	RAD21	HP:0000248	Brachycephaly	1/3	OMIM:614701
5885	RAD21	HP:0000248	Brachycephaly	HP:0040281	ORPHA:199
5885	RAD21	HP:0000220	Velopharyngeal insufficiency	1/2	OMIM:614701
5885	RAD21	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:502
5885	RAD21	HP:0000219	Thin upper lip vermilion	2/2	OMIM:614701
5885	RAD21	HP:0000218	High palate	HP:0040281	ORPHA:199
5885	RAD21	HP:0000233	Thin vermilion border	2/4	OMIM:614701
5885	RAD21	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:199
5885	RAD21	HP:0001557	Prenatal movement abnormality	HP:0040283	ORPHA:199
5885	RAD21	HP:0002857	Genu valgum	-	OMIM:131300
5885	RAD21	HP:0002857	Genu valgum	HP:0040283	ORPHA:502
5885	RAD21	HP:0001533	Slender build	-	OMIM:131300
5885	RAD21	HP:0001508	Failure to thrive	HP:0040282	ORPHA:199
5885	RAD21	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5885	RAD21	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:199
5885	RAD21	HP:0001510	Growth delay	HP:0040283	ORPHA:502
5885	RAD21	HP:0007807	Optic nerve compression	-	OMIM:131300
5885	RAD21	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:502
5885	RAD21	HP:0000381	Stapes ankylosis	1/2	OMIM:614701
5885	RAD21	HP:0012368	Flat face	1/1	OMIM:614701
5885	RAD21	HP:0012368	Flat face	7/7	OMIM:615777
5885	RAD21	HP:0002937	Hemivertebrae	HP:0040283	OMIM:614701
5885	RAD21	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5885	RAD21	HP:0005180	Tricuspid regurgitation	1/3	OMIM:611376
5885	RAD21	HP:0000365	Hearing impairment	10/67	OMIM:131300
5885	RAD21	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:502
5885	RAD21	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:199
5885	RAD21	HP:0000369	Low-set ears	1/3	OMIM:614701
5885	RAD21	HP:0000343	Long philtrum	HP:0040281	ORPHA:502
5885	RAD21	HP:0000343	Long philtrum	4/6	OMIM:614701
5885	RAD21	HP:0000343	Long philtrum	1/7	OMIM:615777
5885	RAD21	HP:0000343	Long philtrum	HP:0040281	ORPHA:199
5885	RAD21	HP:0011001	Increased bone mineral density	-	OMIM:131300
5885	RAD21	HP:0000347	Micrognathia	HP:0040281	ORPHA:199
5885	RAD21	HP:0002983	Micromelia	HP:0040281	ORPHA:199
5885	RAD21	HP:0000319	Smooth philtrum	2/3	OMIM:614701
5885	RAD21	HP:0000316	Hypertelorism	1/3	OMIM:614701
5885	RAD21	HP:0000311	Round face	2/7	OMIM:615777
5885	RAD21	HP:0001642	Pulmonic stenosis	2/3	OMIM:611376
5885	RAD21	HP:0002974	Radioulnar synostosis	HP:0040282	ORPHA:199
5885	RAD21	HP:0002974	Radioulnar synostosis	1/2	OMIM:614701
5885	RAD21	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:199
5885	RAD21	HP:0001622	Premature birth	HP:0040282	ORPHA:199
5885	RAD21	HP:0002970	Genu varum	-	OMIM:615777
5885	RAD21	HP:0001636	Tetralogy of Fallot	1/2	OMIM:614701
5885	RAD21	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:199
5885	RAD21	HP:0000303	Mandibular prognathia	-	OMIM:131300
5885	RAD21	HP:0000498	Blepharitis	HP:0040282	ORPHA:199
5885	RAD21	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:199
5885	RAD21	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:199
5885	RAD21	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:502
5885	RAD21	HP:0000400	Macrotia	HP:0040283	ORPHA:199
5885	RAD21	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5885	RAD21	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:199
5885	RAD21	HP:0000486	Strabismus	HP:0040283	ORPHA:199
5885	RAD21	HP:0000482	Microcornea	HP:0040282	ORPHA:199
5885	RAD21	HP:0000463	Anteverted nares	2/5	OMIM:614701
5885	RAD21	HP:0000463	Anteverted nares	HP:0040281	ORPHA:199
5885	RAD21	HP:0000470	Short neck	1/7	OMIM:615777
5885	RAD21	HP:0000470	Short neck	HP:0040281	ORPHA:199
5885	RAD21	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:199
5885	RAD21	HP:0001773	Short foot	HP:0040281	ORPHA:199
5885	RAD21	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5885	RAD21	HP:0001763	Pes planus	1/7	OMIM:615777
5885	RAD21	HP:0000453	Choanal atresia	HP:0040283	ORPHA:199
5885	RAD21	HP:0000414	Bulbous nose	HP:0040281	ORPHA:502
5885	RAD21	HP:0000411	Protruding ear	HP:0040281	ORPHA:502
5885	RAD21	HP:0000413	Atresia of the external auditory canal	HP:0040281	ORPHA:199
5885	RAD21	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:502
5885	RAD21	HP:0000431	Wide nasal bridge	3/3	OMIM:614701
5885	RAD21	HP:0000518	Cataract	HP:0040283	ORPHA:199
5885	RAD21	HP:0001840	Metatarsus adductus	-	OMIM:615777
5885	RAD21	HP:0000527	Long eyelashes	HP:0040281	ORPHA:199
5885	RAD21	HP:0000520	Proptosis	2/4	OMIM:131300
5885	RAD21	HP:0000520	Proptosis	7/7	OMIM:615777
5885	RAD21	HP:0000508	Ptosis	HP:0040282	ORPHA:199
5885	RAD21	HP:0000501	Glaucoma	HP:0040283	ORPHA:199
5885	RAD21	HP:0000582	Upslanted palpebral fissure	1/2	OMIM:614701
5885	RAD21	HP:0000592	Blue sclerae	2/7	OMIM:615777
5885	RAD21	HP:0000574	Thick eyebrow	3/5	OMIM:614701
5885	RAD21	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:199
5885	RAD21	HP:0000574	Thick eyebrow	HP:0040282	ORPHA:502
5885	RAD21	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5885	RAD21	HP:0001883	Talipes	HP:0040283	ORPHA:199
5885	RAD21	HP:0001883	Talipes	HP:0040283	ORPHA:502
5885	RAD21	HP:0012514	Lower limb pain	4/4	OMIM:131300
5885	RAD21	HP:0000545	Myopia	HP:0040282	ORPHA:199
5888	RAD51	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
5888	RAD51	HP:0002492	Abnormal corticospinal tract morphology	HP:0040282	ORPHA:238722
5888	RAD51	HP:0025101	Dysgenesis of the hippocampus	HP:0040283	ORPHA:238722
5888	RAD51	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
5888	RAD51	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
5888	RAD51	HP:0003764	Nevus	1/1	OMIM:617244
5888	RAD51	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:238722
5888	RAD51	HP:0001274	Agenesis of corpus callosum	HP:0040284	OMIM:157600
5888	RAD51	HP:0001256	Intellectual disability, mild	HP:0040284	OMIM:157600
5888	RAD51	HP:0001256	Intellectual disability, mild	HP:0040284	ORPHA:238722
5888	RAD51	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
5888	RAD51	HP:0001249	Intellectual disability	1/1	OMIM:617244
5888	RAD51	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
5888	RAD51	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
5888	RAD51	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
5888	RAD51	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
5888	RAD51	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
5888	RAD51	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
5888	RAD51	HP:0003829	Typified by incomplete penetrance	-	OMIM:614508
5888	RAD51	HP:0003829	Typified by incomplete penetrance	-	OMIM:157600
5888	RAD51	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
5888	RAD51	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
5888	RAD51	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
5888	RAD51	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
5888	RAD51	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
5888	RAD51	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:238722
5888	RAD51	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
5888	RAD51	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
5888	RAD51	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
5888	RAD51	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
5888	RAD51	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
5888	RAD51	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
5888	RAD51	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
5888	RAD51	HP:0001328	Specific learning disability	HP:0040283	ORPHA:238722
5888	RAD51	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
5888	RAD51	HP:0001335	Bimanual synkinesia	HP:0040282	ORPHA:238722
5888	RAD51	HP:0001335	Bimanual synkinesia	-	OMIM:157600
5888	RAD51	HP:0001335	Bimanual synkinesia	10/18	OMIM:614508
5888	RAD51	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
5888	RAD51	HP:0000006	Autosomal dominant inheritance	-	OMIM:614508
5888	RAD51	HP:0000006	Autosomal dominant inheritance	-	OMIM:157600
5888	RAD51	HP:0000006	Autosomal dominant inheritance	-	OMIM:617244
5888	RAD51	HP:0002650	Scoliosis	1/1	OMIM:617244
5888	RAD51	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
5888	RAD51	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
5888	RAD51	HP:0012125	Prostate cancer	HP:0040283	ORPHA:145
5888	RAD51	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
5888	RAD51	HP:0006349	Agenesis of permanent teeth	1/1	OMIM:617244
5888	RAD51	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
5888	RAD51	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
5888	RAD51	HP:0000125	Pelvic kidney	1/1	OMIM:617244
5888	RAD51	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
5888	RAD51	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
5888	RAD51	HP:0002023	Anal atresia	1/1	OMIM:617244
5888	RAD51	HP:0003326	Myalgia	HP:0040283	ORPHA:238722
5888	RAD51	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
5888	RAD51	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
5888	RAD51	HP:0003388	Easy fatigability	HP:0040282	ORPHA:238722
5888	RAD51	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
5888	RAD51	HP:0010469	Absent testis	HP:0040283	ORPHA:84
5888	RAD51	HP:0002144	Tethered cord	1/1	OMIM:617244
5888	RAD51	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
5888	RAD51	HP:0003593	Infantile onset	-	OMIM:614508
5888	RAD51	HP:0003593	Infantile onset	-	OMIM:157600
5888	RAD51	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
5888	RAD51	HP:0003577	Congenital onset	1/1	OMIM:617244
5888	RAD51	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
5888	RAD51	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
5888	RAD51	HP:0007010	Poor fine motor coordination	HP:0040282	ORPHA:238722
5888	RAD51	HP:0007099	Chiari type I malformation	1/1	OMIM:617244
5888	RAD51	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
5888	RAD51	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
5888	RAD51	HP:0100615	Ovarian neoplasm	HP:0040281	ORPHA:145
5888	RAD51	HP:0009777	Absent thumb	1/1	OMIM:617244
5888	RAD51	HP:0002312	Clumsiness	HP:0040282	ORPHA:238722
5888	RAD51	HP:0005528	Bone marrow hypocellularity	0/1	OMIM:617244
5888	RAD51	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
5888	RAD51	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
5888	RAD51	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
5888	RAD51	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
5888	RAD51	HP:0001903	Anemia	0/1	OMIM:617244
5888	RAD51	HP:0001903	Anemia	HP:0040281	ORPHA:84
5888	RAD51	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
5888	RAD51	HP:0004322	Short stature	HP:0040281	ORPHA:84
5888	RAD51	HP:0003002	Breast carcinoma	-	OMIM:114480
5888	RAD51	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:145
5888	RAD51	HP:0031936	Delayed ability to walk	1/1	OMIM:617244
5888	RAD51	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
5888	RAD51	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
5888	RAD51	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
5888	RAD51	HP:0100021	Cerebral palsy	HP:0040284	ORPHA:238722
5888	RAD51	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:238722
5888	RAD51	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
5888	RAD51	HP:0011463	Childhood onset	-	OMIM:614508
5888	RAD51	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
5888	RAD51	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
5888	RAD51	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
5888	RAD51	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
5888	RAD51	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
5888	RAD51	HP:0003221	Chromosomal breakage induced by crosslinking agents	2/2	OMIM:617244
5888	RAD51	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
5888	RAD51	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
5888	RAD51	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
5888	RAD51	HP:0006433	Radial dysplasia	1/1	OMIM:617244
5888	RAD51	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
5888	RAD51	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
5888	RAD51	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
5888	RAD51	HP:0000238	Hydrocephalus	1/1	OMIM:617244
5888	RAD51	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
5888	RAD51	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
5888	RAD51	HP:0000252	Microcephaly	2/2	OMIM:617244
5888	RAD51	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
5888	RAD51	HP:0000218	High palate	HP:0040283	ORPHA:84
5888	RAD51	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:145
5888	RAD51	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
5888	RAD51	HP:0002861	Melanoma	HP:0040283	ORPHA:145
5888	RAD51	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
5888	RAD51	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
5888	RAD51	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
5888	RAD51	HP:0001510	Growth delay	1/1	OMIM:617244
5888	RAD51	HP:0001510	Growth delay	HP:0040283	ORPHA:84
5888	RAD51	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
5888	RAD51	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
5888	RAD51	HP:0011027	Abnormal fallopian tube morphology	HP:0040281	ORPHA:145
5888	RAD51	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
5888	RAD51	HP:0002949	Fused cervical vertebrae	HP:0040284	ORPHA:238722
5888	RAD51	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
5888	RAD51	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
5888	RAD51	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
5888	RAD51	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
5888	RAD51	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
5888	RAD51	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
5888	RAD51	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
5888	RAD51	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
5888	RAD51	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
5888	RAD51	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
5888	RAD51	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
5888	RAD51	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
5888	RAD51	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
5888	RAD51	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
5888	RAD51	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
5888	RAD51	HP:0000486	Strabismus	HP:0040283	ORPHA:84
5888	RAD51	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
5888	RAD51	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
5888	RAD51	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
5888	RAD51	HP:0001763	Pes planus	HP:0040283	ORPHA:84
5888	RAD51	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
5888	RAD51	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
5888	RAD51	HP:0030406	Primary peritoneal carcinoma	HP:0040281	ORPHA:145
5888	RAD51	HP:0000518	Cataract	HP:0040283	ORPHA:84
5888	RAD51	HP:0000520	Proptosis	HP:0040283	ORPHA:84
5888	RAD51	HP:0001824	Weight loss	HP:0040283	ORPHA:84
5888	RAD51	HP:0000508	Ptosis	HP:0040283	ORPHA:84
5888	RAD51	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
5888	RAD51	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
5888	RAD51	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
5888	RAD51	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
5888	RAD51	HP:0000568	Microphthalmia	1/1	OMIM:617244
5888	RAD51	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
5888	RAD51	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
5888	RAD51	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
5889	RAD51C	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
5889	RAD51C	HP:0003774	Stage 5 chronic kidney disease	1/1	OMIM:613390
5889	RAD51C	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
5889	RAD51C	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
5889	RAD51C	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
5889	RAD51C	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
5889	RAD51C	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
5889	RAD51C	HP:0001245	Small thenar eminence	1/3	OMIM:613390
5889	RAD51C	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
5889	RAD51C	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
5889	RAD51C	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
5889	RAD51C	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
5889	RAD51C	HP:0003811	Neonatal death	1/3	OMIM:613390
5889	RAD51C	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
5889	RAD51C	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
5889	RAD51C	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
5889	RAD51C	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
5889	RAD51C	HP:0025318	Ovarian carcinoma	-	OMIM:613399
5889	RAD51C	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000028	Cryptorchidism	1/2	OMIM:613390
5889	RAD51C	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
5889	RAD51C	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
5889	RAD51C	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
5889	RAD51C	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000007	Autosomal recessive inheritance	-	OMIM:613390
5889	RAD51C	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
5889	RAD51C	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
5889	RAD51C	HP:0012125	Prostate cancer	HP:0040283	ORPHA:145
5889	RAD51C	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
5889	RAD51C	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000126	Hydronephrosis	1/3	OMIM:613390
5889	RAD51C	HP:0000107	Renal cyst	1/3	OMIM:613390
5889	RAD51C	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
5889	RAD51C	HP:0002023	Anal atresia	2/2	OMIM:613390
5889	RAD51C	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
5889	RAD51C	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
5889	RAD51C	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
5889	RAD51C	HP:0010469	Absent testis	HP:0040283	ORPHA:84
5889	RAD51C	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
5889	RAD51C	HP:0009623	Proximal placement of thumb	1/3	OMIM:613390
5889	RAD51C	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
5889	RAD51C	HP:0003577	Congenital onset	3/3	OMIM:613390
5889	RAD51C	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
5889	RAD51C	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
5889	RAD51C	HP:0025023	Rectal atresia	1/2	OMIM:613390
5889	RAD51C	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
5889	RAD51C	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
5889	RAD51C	HP:0100615	Ovarian neoplasm	HP:0040281	ORPHA:145
5889	RAD51C	HP:0009777	Absent thumb	1/3	OMIM:613390
5889	RAD51C	HP:0009778	Short thumb	1/3	OMIM:613390
5889	RAD51C	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
5889	RAD51C	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
5889	RAD51C	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
5889	RAD51C	HP:0001903	Anemia	HP:0040281	ORPHA:84
5889	RAD51C	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
5889	RAD51C	HP:0004322	Short stature	HP:0040281	ORPHA:84
5889	RAD51C	HP:0004322	Short stature	1/1	OMIM:613390
5889	RAD51C	HP:0003002	Breast carcinoma	-	OMIM:613399
5889	RAD51C	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:145
5889	RAD51C	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
5889	RAD51C	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
5889	RAD51C	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
5889	RAD51C	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
5889	RAD51C	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
5889	RAD51C	HP:0040012	Chromosome breakage	2/2	OMIM:613390
5889	RAD51C	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
5889	RAD51C	HP:0003241	External genital hypoplasia	1/3	OMIM:613390
5889	RAD51C	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
5889	RAD51C	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
5889	RAD51C	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
5889	RAD51C	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
5889	RAD51C	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
5889	RAD51C	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
5889	RAD51C	HP:0000218	High palate	HP:0040283	ORPHA:84
5889	RAD51C	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:145
5889	RAD51C	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
5889	RAD51C	HP:0002861	Melanoma	HP:0040283	ORPHA:145
5889	RAD51C	HP:0001522	Death in infancy	1/3	OMIM:613390
5889	RAD51C	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
5889	RAD51C	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
5889	RAD51C	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
5889	RAD51C	HP:0001510	Growth delay	HP:0040283	ORPHA:84
5889	RAD51C	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
5889	RAD51C	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
5889	RAD51C	HP:0011027	Abnormal fallopian tube morphology	HP:0040281	ORPHA:145
5889	RAD51C	HP:0005268	Miscarriage	1/4	OMIM:613390
5889	RAD51C	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
5889	RAD51C	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
5889	RAD51C	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
5889	RAD51C	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
5889	RAD51C	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
5889	RAD51C	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
5889	RAD51C	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
5889	RAD51C	HP:0002984	Hypoplasia of the radius	1/3	OMIM:613390
5889	RAD51C	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
5889	RAD51C	HP:0001627	Abnormal heart morphology	-	OMIM:613390
5889	RAD51C	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
5889	RAD51C	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
5889	RAD51C	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
5889	RAD51C	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000486	Strabismus	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
5889	RAD51C	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
5889	RAD51C	HP:0001763	Pes planus	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
5889	RAD51C	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
5889	RAD51C	HP:0030406	Primary peritoneal carcinoma	HP:0040281	ORPHA:145
5889	RAD51C	HP:0000518	Cataract	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000520	Proptosis	HP:0040283	ORPHA:84
5889	RAD51C	HP:0001824	Weight loss	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000508	Ptosis	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
5889	RAD51C	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
5889	RAD51C	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
5889	RAD51C	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
5889	RAD51C	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
5892	RAD51D	HP:0012125	Prostate cancer	HP:0040283	ORPHA:145
5892	RAD51D	HP:0100615	Ovarian neoplasm	HP:0040281	ORPHA:145
5892	RAD51D	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:145
5892	RAD51D	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:145
5892	RAD51D	HP:0002861	Melanoma	HP:0040283	ORPHA:145
5892	RAD51D	HP:0011027	Abnormal fallopian tube morphology	HP:0040281	ORPHA:145
5892	RAD51D	HP:0030406	Primary peritoneal carcinoma	HP:0040281	ORPHA:145
5894	RAF1	HP:0001156	Brachydactyly	HP:0040283	ORPHA:648
5894	RAF1	HP:0010946	Dilatation of the renal pelvis	HP:0040283	ORPHA:648
5894	RAF1	HP:0008625	Severe sensorineural hearing impairment	HP:0040281	ORPHA:500
5894	RAF1	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
5894	RAF1	HP:0003764	Nevus	8/23	OMIM:611553
5894	RAF1	HP:0003764	Nevus	HP:0040281	ORPHA:626
5894	RAF1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5894	RAF1	HP:0001293	Cranial nerve compression	-	OMIM:131300
5894	RAF1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:500
5894	RAF1	HP:0001250	Seizure	HP:0040283	ORPHA:626
5894	RAF1	HP:0001252	Hypotonia	HP:0040282	ORPHA:648
5894	RAF1	HP:0001252	Hypotonia	2/7	OMIM:615777
5894	RAF1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:648
5894	RAF1	HP:0001249	Intellectual disability	8/23	OMIM:611553
5894	RAF1	HP:0001249	Intellectual disability	5/7	OMIM:615777
5894	RAF1	HP:0001260	Dysarthria	HP:0040281	ORPHA:648
5894	RAF1	HP:0001263	Global developmental delay	-	OMIM:611553
5894	RAF1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:500
5894	RAF1	HP:0001263	Global developmental delay	-	OMIM:615777
5894	RAF1	HP:0007392	Excessive wrinkled skin	HP:0040283	ORPHA:500
5894	RAF1	HP:0002515	Waddling gait	54/102	OMIM:131300
5894	RAF1	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:626
5894	RAF1	HP:0012056	Cutaneous melanoma	HP:0040283	ORPHA:626
5894	RAF1	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:648
5894	RAF1	HP:0000078	Abnormality of the genital system	HP:0040281	ORPHA:500
5894	RAF1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:648
5894	RAF1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:648
5894	RAF1	HP:0001382	Joint hypermobility	-	OMIM:615777
5894	RAF1	HP:0000047	Hypospadias	HP:0040283	ORPHA:500
5894	RAF1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5894	RAF1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:500
5894	RAF1	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:626
5894	RAF1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:648
5894	RAF1	HP:0000028	Cryptorchidism	6/10	OMIM:611553
5894	RAF1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5894	RAF1	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:648
5894	RAF1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:648
5894	RAF1	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:648
5894	RAF1	HP:0001328	Specific learning disability	HP:0040283	ORPHA:648
5894	RAF1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5894	RAF1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:648
5894	RAF1	HP:0001324	Muscle weakness	40/96	OMIM:131300
5894	RAF1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5894	RAF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5894	RAF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:611554
5894	RAF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:611553
5894	RAF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615916
5894	RAF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
5894	RAF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
5894	RAF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5894	RAF1	HP:0002650	Scoliosis	HP:0040283	ORPHA:500
5894	RAF1	HP:0002650	Scoliosis	HP:0040282	ORPHA:648
5894	RAF1	HP:0002650	Scoliosis	12/14	OMIM:131300
5894	RAF1	HP:0033755	Increased left ventricular end-diastolic volume	8/10	OMIM:615916
5894	RAF1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5894	RAF1	HP:0002619	Varicose veins	-	OMIM:153400
5894	RAF1	HP:0002617	Vascular dilatation	HP:0040283	ORPHA:500
5894	RAF1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5894	RAF1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5894	RAF1	HP:0000179	Thick lower lip vermilion	-	OMIM:611554
5894	RAF1	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:648
5894	RAF1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5894	RAF1	HP:0000175	Cleft palate	5/39	OMIM:153400
5894	RAF1	HP:0000175	Cleft palate	2/7	OMIM:615777
5894	RAF1	HP:0000144	Decreased fertility	HP:0040282	ORPHA:500
5894	RAF1	HP:0000154	Wide mouth	5/23	OMIM:611553
5894	RAF1	HP:0001480	Freckling	HP:0040281	ORPHA:500
5894	RAF1	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:626
5894	RAF1	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:500
5894	RAF1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:648
5894	RAF1	HP:0011800	Midface retrusion	HP:0040281	ORPHA:648
5894	RAF1	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:500
5894	RAF1	HP:0003388	Easy fatigability	36/76	OMIM:131300
5894	RAF1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5894	RAF1	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
5894	RAF1	HP:0011710	Bundle branch block	HP:0040281	ORPHA:500
5894	RAF1	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
5894	RAF1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:648
5894	RAF1	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:648
5894	RAF1	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:626
5894	RAF1	HP:0011869	Abnormal platelet function	HP:0040282	ORPHA:648
5894	RAF1	HP:0003596	Middle age onset	1/10	OMIM:615916
5894	RAF1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:648
5894	RAF1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
5894	RAF1	HP:0002212	Curly hair	-	OMIM:611554
5894	RAF1	HP:0002212	Curly hair	6/23	OMIM:611553
5894	RAF1	HP:0002213	Fine hair	3/23	OMIM:611553
5894	RAF1	HP:0002208	Coarse hair	HP:0040282	ORPHA:648
5894	RAF1	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:648
5894	RAF1	HP:0009743	Distichiasis	42/42	OMIM:153400
5894	RAF1	HP:0003510	Severe short stature	7/7	OMIM:615777
5894	RAF1	HP:0001058	Poor wound healing	HP:0040282	ORPHA:626
5894	RAF1	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:626
5894	RAF1	HP:0003691	Scapular winging	HP:0040282	ORPHA:500
5894	RAF1	HP:0001004	Lymphedema	HP:0040283	ORPHA:648
5894	RAF1	HP:0001004	Lymphedema	-	OMIM:153400
5894	RAF1	HP:0002315	Headache	-	OMIM:131300
5894	RAF1	HP:0002315	Headache	HP:0040283	ORPHA:626
5894	RAF1	HP:0004976	Knee dislocation	6/7	OMIM:615777
5894	RAF1	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:626
5894	RAF1	HP:0001003	Multiple lentigines	-	OMIM:611554
5894	RAF1	HP:0001003	Multiple lentigines	4/23	OMIM:611553
5894	RAF1	HP:0001003	Multiple lentigines	HP:0040281	ORPHA:500
5894	RAF1	HP:0100658	Cellulitis	2/6	OMIM:153400
5894	RAF1	HP:0100625	Enlarged thorax	HP:0040281	ORPHA:648
5894	RAF1	HP:0009803	Short phalanx of finger	-	OMIM:615777
5894	RAF1	HP:0032152	Keratosis pilaris	2/23	OMIM:611553
5894	RAF1	HP:0009763	Limb pain	63/92	OMIM:131300
5894	RAF1	HP:0003621	Juvenile onset	4/10	OMIM:615916
5894	RAF1	HP:0003621	Juvenile onset	-	OMIM:131300
5894	RAF1	HP:0004912	Hypophosphatemic rickets	HP:0040284	ORPHA:626
5894	RAF1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5894	RAF1	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:648
5894	RAF1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
5894	RAF1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5894	RAF1	HP:0000639	Nystagmus	HP:0040283	ORPHA:648
5894	RAF1	HP:0000635	Blue irides	HP:0040282	ORPHA:648
5894	RAF1	HP:6001056	Out-toeing	-	OMIM:131300
5894	RAF1	HP:0000651	Diplopia	-	OMIM:131300
5894	RAF1	HP:0000613	Photophobia	10/49	OMIM:153400
5894	RAF1	HP:0001956	Truncal obesity	2/7	OMIM:615777
5894	RAF1	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:648
5894	RAF1	HP:0001903	Anemia	HP:0040283	OMIM:131300
5894	RAF1	HP:0010049	Short metacarpal	-	OMIM:615777
5894	RAF1	HP:0011381	Aplasia of the semicircular canal	HP:0040283	ORPHA:648
5894	RAF1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
5894	RAF1	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:648
5894	RAF1	HP:0012664	Reduced left ventricular ejection fraction	10/10	OMIM:615916
5894	RAF1	HP:0000678	Dental crowding	-	OMIM:615777
5894	RAF1	HP:0000656	Ectropion	2/43	OMIM:153400
5894	RAF1	HP:0000670	Carious teeth	-	OMIM:131300
5894	RAF1	HP:0011304	Broad thumb	2/7	OMIM:615777
5894	RAF1	HP:0000668	Hypodontia	-	OMIM:615777
5894	RAF1	HP:0001999	Abnormal facial shape	-	OMIM:611553
5894	RAF1	HP:0000664	Synophrys	-	OMIM:615777
5894	RAF1	HP:0004322	Short stature	HP:0040281	ORPHA:648
5894	RAF1	HP:0004322	Short stature	-	OMIM:611554
5894	RAF1	HP:0004322	Short stature	30/33	OMIM:611553
5894	RAF1	HP:0004322	Short stature	HP:0040282	ORPHA:500
5894	RAF1	HP:0004308	Ventricular arrhythmia	5/10	OMIM:615916
5894	RAF1	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:500
5894	RAF1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:500
5894	RAF1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:648
5894	RAF1	HP:0005600	Congenital giant melanocytic nevus	HP:0040281	ORPHA:626
5894	RAF1	HP:0004396	Poor appetite	-	OMIM:131300
5894	RAF1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5894	RAF1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5894	RAF1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5894	RAF1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
5894	RAF1	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:500
5894	RAF1	HP:0003026	Short long bone	7/7	OMIM:615777
5894	RAF1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5894	RAF1	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:500
5894	RAF1	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:648
5894	RAF1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5894	RAF1	HP:0000766	Abnormal sternum morphology	-	OMIM:611554
5894	RAF1	HP:0000766	Abnormal sternum morphology	-	OMIM:611553
5894	RAF1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5894	RAF1	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:500
5894	RAF1	HP:0000768	Pectus carinatum	HP:0040281	ORPHA:648
5894	RAF1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5894	RAF1	HP:0000750	Delayed speech and language development	-	OMIM:615777
5894	RAF1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:626
5894	RAF1	HP:0011463	Childhood onset	3/10	OMIM:615916
5894	RAF1	HP:0011462	Young adult onset	2/10	OMIM:615916
5894	RAF1	HP:0011461	Fetal onset	7/7	OMIM:615777
5894	RAF1	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
5894	RAF1	HP:0000774	Narrow chest	2/7	OMIM:615777
5894	RAF1	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:626
5894	RAF1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:648
5894	RAF1	HP:0003115	Abnormal EKG	HP:0040281	ORPHA:648
5894	RAF1	HP:0004415	Pulmonary artery stenosis	HP:0040281	ORPHA:648
5894	RAF1	HP:0004414	Abnormality of the pulmonary artery	HP:0040281	ORPHA:500
5894	RAF1	HP:0003198	Myopathy	HP:0040283	ORPHA:154
5894	RAF1	HP:0000912	Sprengel anomaly	HP:0040282	ORPHA:500
5894	RAF1	HP:0000926	Platyspondyly	1/7	OMIM:615777
5894	RAF1	HP:0003180	Flat acetabular roof	-	OMIM:615777
5894	RAF1	HP:0004482	Relative macrocephaly	-	OMIM:615777
5894	RAF1	HP:0004467	Preauricular pit	-	OMIM:187500
5894	RAF1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5894	RAF1	HP:0012804	Corneal ulceration	-	OMIM:153400
5894	RAF1	HP:0000823	Delayed puberty	-	OMIM:131300
5894	RAF1	HP:0000894	Short clavicles	-	OMIM:615777
5894	RAF1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5894	RAF1	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:500
5894	RAF1	HP:0045075	Sparse eyebrow	2/23	OMIM:611553
5894	RAF1	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:626
5894	RAF1	HP:0000995	Melanocytic nevus	HP:0040281	ORPHA:500
5894	RAF1	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:648
5894	RAF1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:648
5894	RAF1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040283	ORPHA:500
5894	RAF1	HP:0010310	Chylothorax	1/6	OMIM:153400
5894	RAF1	HP:0010314	Premature thelarche	HP:0040284	ORPHA:626
5894	RAF1	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:648
5894	RAF1	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:500
5894	RAF1	HP:0000989	Pruritus	HP:0040283	ORPHA:626
5894	RAF1	HP:0000958	Dry skin	-	OMIM:611554
5894	RAF1	HP:0000958	Dry skin	8/23	OMIM:611553
5894	RAF1	HP:0000958	Dry skin	HP:0040282	ORPHA:626
5894	RAF1	HP:0000957	Cafe-au-lait spot	-	OMIM:611554
5894	RAF1	HP:0000957	Cafe-au-lait spot	4/22	OMIM:611553
5894	RAF1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5894	RAF1	HP:0000970	Anhidrosis	HP:0040282	ORPHA:626
5894	RAF1	HP:0000969	Edema	HP:0040282	ORPHA:154
5894	RAF1	HP:0000938	Osteopenia	HP:0040283	ORPHA:648
5894	RAF1	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
5894	RAF1	HP:0011675	Arrhythmia	-	OMIM:611553
5894	RAF1	HP:0011675	Arrhythmia	-	OMIM:153400
5894	RAF1	HP:0011675	Arrhythmia	HP:0040281	ORPHA:500
5894	RAF1	HP:0011675	Arrhythmia	HP:0040282	ORPHA:648
5894	RAF1	HP:0000286	Epicanthus	-	OMIM:611554
5894	RAF1	HP:0000286	Epicanthus	13/23	OMIM:611553
5894	RAF1	HP:0000286	Epicanthus	1/7	OMIM:615777
5894	RAF1	HP:0000280	Coarse facial features	2/7	OMIM:615777
5894	RAF1	HP:0012249	Abnormal ST segment	9/10	OMIM:615916
5894	RAF1	HP:0000256	Macrocephaly	17/23	OMIM:611553
5894	RAF1	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:500
5894	RAF1	HP:0000268	Dolichocephaly	-	OMIM:611554
5894	RAF1	HP:0000268	Dolichocephaly	12/22	OMIM:611553
5894	RAF1	HP:0002827	Hip dislocation	3/7	OMIM:615777
5894	RAF1	HP:0002808	Kyphosis	2/5	OMIM:153400
5894	RAF1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:626
5894	RAF1	HP:0000252	Microcephaly	-	OMIM:615777
5894	RAF1	HP:0000248	Brachycephaly	HP:0040283	ORPHA:500
5894	RAF1	HP:0012209	Juvenile myelomonocytic leukemia	HP:0040283	ORPHA:648
5894	RAF1	HP:0000218	High palate	HP:0040281	ORPHA:648
5894	RAF1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
5894	RAF1	HP:0001561	Polyhydramnios	6/19	OMIM:611553
5894	RAF1	HP:0002861	Melanoma	HP:0040283	ORPHA:500
5894	RAF1	HP:0002857	Genu valgum	-	OMIM:131300
5894	RAF1	HP:0001533	Slender build	-	OMIM:131300
5894	RAF1	HP:0000204	Cleft upper lip	-	OMIM:153400
5894	RAF1	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:500
5894	RAF1	HP:0001520	Large for gestational age	6/22	OMIM:611553
5894	RAF1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:500
5894	RAF1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5894	RAF1	HP:0001510	Growth delay	HP:0040281	ORPHA:500
5894	RAF1	HP:0007807	Optic nerve compression	-	OMIM:131300
5894	RAF1	HP:0012378	Fatigue	HP:0040282	ORPHA:154
5894	RAF1	HP:0012368	Flat face	7/7	OMIM:615777
5894	RAF1	HP:0000391	Thickened helices	20/23	OMIM:611553
5894	RAF1	HP:0000391	Thickened helices	HP:0040281	ORPHA:648
5894	RAF1	HP:0001608	Abnormality of the voice	HP:0040283	ORPHA:500
5894	RAF1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5894	RAF1	HP:0001601	Laryngomalacia	4/18	OMIM:611553
5894	RAF1	HP:0000365	Hearing impairment	10/67	OMIM:131300
5894	RAF1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:500
5894	RAF1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:648
5894	RAF1	HP:0000369	Low-set ears	-	OMIM:611554
5894	RAF1	HP:0000369	Low-set ears	20/23	OMIM:611553
5894	RAF1	HP:0000343	Long philtrum	1/7	OMIM:615777
5894	RAF1	HP:0011001	Increased bone mineral density	-	OMIM:131300
5894	RAF1	HP:0000337	Broad forehead	-	OMIM:187500
5894	RAF1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:648
5894	RAF1	HP:0000348	High forehead	HP:0040281	ORPHA:648
5894	RAF1	HP:0000347	Micrognathia	2/5	OMIM:153400
5894	RAF1	HP:0000347	Micrognathia	HP:0040281	ORPHA:648
5894	RAF1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:500
5894	RAF1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:648
5894	RAF1	HP:0000316	Hypertelorism	-	OMIM:611554
5894	RAF1	HP:0000316	Hypertelorism	22/23	OMIM:611553
5894	RAF1	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:648
5894	RAF1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
5894	RAF1	HP:0000311	Round face	2/7	OMIM:615777
5894	RAF1	HP:0001642	Pulmonic stenosis	5/23	OMIM:611553
5894	RAF1	HP:0001642	Pulmonic stenosis	HP:0040281	ORPHA:500
5894	RAF1	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:648
5894	RAF1	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
5894	RAF1	HP:0001644	Dilated cardiomyopathy	10/10	OMIM:615916
5894	RAF1	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:500
5894	RAF1	HP:0001653	Mitral regurgitation	10/10	OMIM:615916
5894	RAF1	HP:0000325	Triangular face	HP:0040283	ORPHA:500
5894	RAF1	HP:0000325	Triangular face	HP:0040281	ORPHA:648
5894	RAF1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
5894	RAF1	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:648
5894	RAF1	HP:0001641	Abnormal pulmonary valve morphology	HP:0040281	ORPHA:500
5894	RAF1	HP:0002970	Genu varum	-	OMIM:615777
5894	RAF1	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:611554
5894	RAF1	HP:0001639	Hypertrophic cardiomyopathy	24/34	OMIM:611553
5894	RAF1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:500
5894	RAF1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:648
5894	RAF1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
5894	RAF1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
5894	RAF1	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
5894	RAF1	HP:0001635	Congestive heart failure	10/10	OMIM:615916
5894	RAF1	HP:0002967	Cubitus valgus	-	OMIM:611554
5894	RAF1	HP:0002967	Cubitus valgus	8/23	OMIM:611553
5894	RAF1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:648
5894	RAF1	HP:0001631	Atrial septal defect	11/34	OMIM:611553
5894	RAF1	HP:0000303	Mandibular prognathia	-	OMIM:611554
5894	RAF1	HP:0000303	Mandibular prognathia	13/21	OMIM:611553
5894	RAF1	HP:0000303	Mandibular prognathia	-	OMIM:131300
5894	RAF1	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:500
5894	RAF1	HP:0001633	Abnormal mitral valve morphology	HP:0040282	ORPHA:500
5894	RAF1	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:648
5894	RAF1	HP:0006695	Atrioventricular canal defect	HP:0040282	ORPHA:500
5894	RAF1	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
5894	RAF1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
5894	RAF1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:500
5894	RAF1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:648
5894	RAF1	HP:0005280	Depressed nasal bridge	-	OMIM:611554
5894	RAF1	HP:0005280	Depressed nasal bridge	14/23	OMIM:611553
5894	RAF1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5894	RAF1	HP:0000486	Strabismus	HP:0040282	ORPHA:648
5894	RAF1	HP:0012471	Thick vermilion border	8/23	OMIM:611553
5894	RAF1	HP:0000476	Cystic hygroma	HP:0040281	ORPHA:648
5894	RAF1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
5894	RAF1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
5894	RAF1	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:648
5894	RAF1	HP:0000494	Downslanted palpebral fissures	-	OMIM:611554
5894	RAF1	HP:0000494	Downslanted palpebral fissures	21/23	OMIM:611553
5894	RAF1	HP:0001792	Small nail	1/23	OMIM:611553
5894	RAF1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
5894	RAF1	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:648
5894	RAF1	HP:0000470	Short neck	-	OMIM:611554
5894	RAF1	HP:0000470	Short neck	15/32	OMIM:611553
5894	RAF1	HP:0000470	Short neck	1/7	OMIM:615777
5894	RAF1	HP:0000465	Webbed neck	-	OMIM:611554
5894	RAF1	HP:0000465	Webbed neck	12/31	OMIM:611553
5894	RAF1	HP:0000465	Webbed neck	HP:0040282	ORPHA:500
5894	RAF1	HP:0000465	Webbed neck	HP:0040281	ORPHA:648
5894	RAF1	HP:0000465	Webbed neck	6/43	OMIM:153400
5894	RAF1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5894	RAF1	HP:0001763	Pes planus	1/7	OMIM:615777
5894	RAF1	HP:0001743	Abnormality of the spleen	HP:0040282	ORPHA:648
5894	RAF1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:500
5894	RAF1	HP:0001840	Metatarsus adductus	-	OMIM:615777
5894	RAF1	HP:0000520	Proptosis	2/4	OMIM:131300
5894	RAF1	HP:0000520	Proptosis	-	OMIM:187500
5894	RAF1	HP:0000520	Proptosis	7/7	OMIM:615777
5894	RAF1	HP:0000520	Proptosis	HP:0040281	ORPHA:648
5894	RAF1	HP:0000509	Conjunctivitis	-	OMIM:153400
5894	RAF1	HP:0000508	Ptosis	HP:0040282	ORPHA:500
5894	RAF1	HP:0000508	Ptosis	2/39	OMIM:153400
5894	RAF1	HP:0000508	Ptosis	HP:0040281	ORPHA:648
5894	RAF1	HP:0000508	Ptosis	20/23	OMIM:611553
5894	RAF1	HP:0012569	Delayed menarche	HP:0040283	ORPHA:648
5894	RAF1	HP:0000592	Blue sclerae	2/7	OMIM:615777
5894	RAF1	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:648
5894	RAF1	HP:0011220	Prominent forehead	18/23	OMIM:611553
5894	RAF1	HP:0000568	Microphthalmia	1/6	OMIM:153400
5894	RAF1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5894	RAF1	HP:0012514	Lower limb pain	4/4	OMIM:131300
5896	RAG1	HP:0100806	Sepsis	HP:0040283	ORPHA:39041
5896	RAG1	HP:0100806	Sepsis	HP:0040281	ORPHA:231154
5896	RAG1	HP:0001287	Meningitis	-	OMIM:601457
5896	RAG1	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:39041
5896	RAG1	HP:0010976	Decreased total B cell count	-	OMIM:603554
5896	RAG1	HP:0010976	Decreased total B cell count	-	OMIM:601457
5896	RAG1	HP:0010976	Decreased total B cell count	HP:0040281	ORPHA:231154
5896	RAG1	HP:0010976	Decreased total B cell count	-	OMIM:233650
5896	RAG1	HP:0010975	Abnormal B cell count	HP:0040281	ORPHA:331206
5896	RAG1	HP:0001369	Arthritis	-	OMIM:601457
5896	RAG1	HP:0007549	Desquamation of skin soon after birth	HP:0040282	ORPHA:39041
5896	RAG1	HP:0008866	Failure to thrive secondary to recurrent infections	-	OMIM:601457
5896	RAG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:601457
5896	RAG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:233650
5896	RAG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:603554
5896	RAG1	HP:0002665	Lymphoma	HP:0040283	ORPHA:39041
5896	RAG1	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:39041
5896	RAG1	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:331206
5896	RAG1	HP:0002743	Recurrent enteroviral infections	HP:0040282	ORPHA:331206
5896	RAG1	HP:0002718	Recurrent bacterial infections	HP:0040282	ORPHA:331206
5896	RAG1	HP:0002718	Recurrent bacterial infections	-	OMIM:603554
5896	RAG1	HP:0002716	Lymphadenopathy	-	OMIM:603554
5896	RAG1	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:39041
5896	RAG1	HP:0002720	Decreased circulating IgA concentration	HP:0040281	ORPHA:331206
5896	RAG1	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:231154
5896	RAG1	HP:0002028	Chronic diarrhea	HP:0040281	ORPHA:39041
5896	RAG1	HP:0002014	Diarrhea	-	OMIM:603554
5896	RAG1	HP:0002014	Diarrhea	-	OMIM:601457
5896	RAG1	HP:0040334	Purulent rhinitis	-	OMIM:601457
5896	RAG1	HP:0002090	Pneumonia	-	OMIM:601457
5896	RAG1	HP:0002090	Pneumonia	HP:0040282	ORPHA:39041
5896	RAG1	HP:0002090	Pneumonia	-	OMIM:603554
5896	RAG1	HP:0011839	Abnormal T cell count	HP:0040281	ORPHA:331206
5896	RAG1	HP:0003593	Infantile onset	-	OMIM:233650
5896	RAG1	HP:0002240	Hepatomegaly	-	OMIM:603554
5896	RAG1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:39041
5896	RAG1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:331206
5896	RAG1	HP:0002205	Recurrent respiratory infections	-	OMIM:233650
5896	RAG1	HP:0200117	Recurrent upper and lower respiratory tract infections	HP:0040282	ORPHA:331206
5896	RAG1	HP:0001019	Erythroderma	HP:0040281	ORPHA:39041
5896	RAG1	HP:0001019	Erythroderma	-	OMIM:603554
5896	RAG1	HP:0100646	Thyroiditis	HP:0040283	ORPHA:39041
5896	RAG1	HP:0001072	Thickened skin	HP:0040282	ORPHA:39041
5896	RAG1	HP:0001072	Thickened skin	-	OMIM:603554
5896	RAG1	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:39041
5896	RAG1	HP:0001945	Fever	HP:0040282	ORPHA:39041
5896	RAG1	HP:0001945	Fever	HP:0040282	ORPHA:331206
5896	RAG1	HP:0001904	Autoimmune neutropenia	HP:0040282	ORPHA:231154
5896	RAG1	HP:0001903	Anemia	-	OMIM:603554
5896	RAG1	HP:0001903	Anemia	HP:0040283	ORPHA:39041
5896	RAG1	HP:0004315	Decreased circulating IgG concentration	HP:0040281	ORPHA:331206
5896	RAG1	HP:0004315	Decreased circulating IgG concentration	-	OMIM:233650
5896	RAG1	HP:0004332	Abnormal lymphocyte morphology	HP:0040281	ORPHA:39041
5896	RAG1	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:331206
5896	RAG1	HP:0003075	Hypoproteinemia	-	OMIM:603554
5896	RAG1	HP:0004385	Protracted diarrhea	HP:0040282	ORPHA:331206
5896	RAG1	HP:0000778	Hypoplasia of the thymus	-	OMIM:603554
5896	RAG1	HP:0004430	Severe combined immunodeficiency	HP:0040281	ORPHA:231154
5896	RAG1	HP:0004430	Severe combined immunodeficiency	-	OMIM:601457
5896	RAG1	HP:0004430	Severe combined immunodeficiency	HP:0040281	ORPHA:39041
5896	RAG1	HP:0004429	Recurrent viral infections	-	OMIM:603554
5896	RAG1	HP:0004429	Recurrent viral infections	HP:0040282	ORPHA:331206
5896	RAG1	HP:0003139	Panhypogammaglobulinemia	-	OMIM:601457
5896	RAG1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:39041
5896	RAG1	HP:0040089	Abnormal total natural killer cell count	HP:0040283	ORPHA:331206
5896	RAG1	HP:0045080	Decreased CD3+ T cell proportion	HP:0040282	ORPHA:331206
5896	RAG1	HP:0000980	Pallor	HP:0040283	ORPHA:331206
5896	RAG1	HP:0000989	Pruritus	HP:0040282	ORPHA:39041
5896	RAG1	HP:0000988	Skin rash	HP:0040283	ORPHA:331206
5896	RAG1	HP:0000958	Dry skin	HP:0040282	ORPHA:39041
5896	RAG1	HP:0000969	Edema	HP:0040282	ORPHA:39041
5896	RAG1	HP:0000944	Abnormal metaphysis morphology	HP:0040283	ORPHA:39041
5896	RAG1	HP:0000265	Mastoiditis	-	OMIM:601457
5896	RAG1	HP:0001596	Alopecia	-	OMIM:603554
5896	RAG1	HP:0001596	Alopecia	HP:0040281	ORPHA:39041
5896	RAG1	HP:0031402	Reduced antigen-specific T cell proliferation	HP:0040282	ORPHA:331206
5896	RAG1	HP:0002840	Lymphadenitis	HP:0040283	ORPHA:331206
5896	RAG1	HP:0001508	Failure to thrive	-	OMIM:601457
5896	RAG1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:331206
5896	RAG1	HP:0001508	Failure to thrive	-	OMIM:603554
5896	RAG1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:39041
5896	RAG1	HP:0002850	Decreased circulating total IgM	HP:0040281	ORPHA:331206
5896	RAG1	HP:0031381	Decreased mitogen-induced T-cell proliferation	HP:0040282	ORPHA:331206
5896	RAG1	HP:0002841	Recurrent fungal infections	HP:0040282	ORPHA:331206
5896	RAG1	HP:0002841	Recurrent fungal infections	-	OMIM:603554
5896	RAG1	HP:0000388	Otitis media	-	OMIM:601457
5896	RAG1	HP:0006515	Interstitial pneumonitis	HP:0040281	ORPHA:231154
5896	RAG1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:331206
5896	RAG1	HP:0002960	Autoimmunity	HP:0040283	ORPHA:331206
5896	RAG1	HP:0002960	Autoimmunity	HP:0040283	ORPHA:39041
5896	RAG1	HP:0002960	Autoimmunity	HP:0040283	ORPHA:231154
5896	RAG1	HP:0005387	Combined immunodeficiency	-	OMIM:233650
5896	RAG1	HP:0005365	Severe B lymphocytopenia	-	OMIM:603554
5896	RAG1	HP:0001744	Splenomegaly	-	OMIM:603554
5896	RAG1	HP:0001744	Splenomegaly	HP:0040282	ORPHA:39041
5896	RAG1	HP:0001744	Splenomegaly	HP:0040281	ORPHA:231154
5896	RAG1	HP:0005403	Decreased total T cell count	-	OMIM:601457
5896	RAG1	HP:0005403	Decreased total T cell count	HP:0040281	ORPHA:231154
5896	RAG1	HP:0005403	Decreased total T cell count	-	OMIM:233650
5896	RAG1	HP:0000509	Conjunctivitis	-	OMIM:601457
5896	RAG1	HP:0001831	Short toe	HP:0040283	ORPHA:39041
5896	RAG1	HP:0005390	Recurrent opportunistic infections	-	OMIM:601457
5896	RAG1	HP:0001890	Autoimmune hemolytic anemia	HP:0040282	ORPHA:231154
5896	RAG1	HP:0001890	Autoimmune hemolytic anemia	HP:0040283	ORPHA:331206
5896	RAG1	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:331206
5896	RAG1	HP:0001880	Increased total eosinophil count	HP:0040282	ORPHA:39041
5896	RAG1	HP:0001880	Increased total eosinophil count	-	OMIM:603554
5896	RAG1	HP:0001880	Increased total eosinophil count	HP:0040283	ORPHA:331206
5896	RAG1	HP:0001873	Thrombocytopenia	-	OMIM:603554
5896	RAG1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:331206
5897	RAG2	HP:0100806	Sepsis	HP:0040283	ORPHA:39041
5897	RAG2	HP:0001287	Meningitis	-	OMIM:601457
5897	RAG2	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:39041
5897	RAG2	HP:0010976	Decreased total B cell count	-	OMIM:603554
5897	RAG2	HP:0010976	Decreased total B cell count	-	OMIM:601457
5897	RAG2	HP:0010976	Decreased total B cell count	-	OMIM:233650
5897	RAG2	HP:0010975	Abnormal B cell count	HP:0040281	ORPHA:331206
5897	RAG2	HP:0001369	Arthritis	-	OMIM:601457
5897	RAG2	HP:0007549	Desquamation of skin soon after birth	HP:0040282	ORPHA:39041
5897	RAG2	HP:0008866	Failure to thrive secondary to recurrent infections	-	OMIM:601457
5897	RAG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:601457
5897	RAG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:233650
5897	RAG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:603554
5897	RAG2	HP:0002665	Lymphoma	HP:0040283	ORPHA:39041
5897	RAG2	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:39041
5897	RAG2	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:331206
5897	RAG2	HP:0002743	Recurrent enteroviral infections	HP:0040282	ORPHA:331206
5897	RAG2	HP:0002718	Recurrent bacterial infections	HP:0040282	ORPHA:331206
5897	RAG2	HP:0002718	Recurrent bacterial infections	-	OMIM:603554
5897	RAG2	HP:0002716	Lymphadenopathy	-	OMIM:603554
5897	RAG2	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:39041
5897	RAG2	HP:0002720	Decreased circulating IgA concentration	HP:0040281	ORPHA:331206
5897	RAG2	HP:0002028	Chronic diarrhea	HP:0040281	ORPHA:39041
5897	RAG2	HP:0002014	Diarrhea	-	OMIM:603554
5897	RAG2	HP:0002014	Diarrhea	-	OMIM:601457
5897	RAG2	HP:0040334	Purulent rhinitis	-	OMIM:601457
5897	RAG2	HP:0002090	Pneumonia	-	OMIM:601457
5897	RAG2	HP:0002090	Pneumonia	HP:0040282	ORPHA:39041
5897	RAG2	HP:0002090	Pneumonia	-	OMIM:603554
5897	RAG2	HP:0011839	Abnormal T cell count	HP:0040281	ORPHA:331206
5897	RAG2	HP:0003593	Infantile onset	-	OMIM:233650
5897	RAG2	HP:0002240	Hepatomegaly	-	OMIM:603554
5897	RAG2	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:39041
5897	RAG2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:331206
5897	RAG2	HP:0002205	Recurrent respiratory infections	-	OMIM:233650
5897	RAG2	HP:0200117	Recurrent upper and lower respiratory tract infections	HP:0040282	ORPHA:331206
5897	RAG2	HP:0001019	Erythroderma	HP:0040281	ORPHA:39041
5897	RAG2	HP:0001019	Erythroderma	-	OMIM:603554
5897	RAG2	HP:0100646	Thyroiditis	HP:0040283	ORPHA:39041
5897	RAG2	HP:0001072	Thickened skin	HP:0040282	ORPHA:39041
5897	RAG2	HP:0001072	Thickened skin	-	OMIM:603554
5897	RAG2	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:39041
5897	RAG2	HP:0001945	Fever	HP:0040282	ORPHA:39041
5897	RAG2	HP:0001945	Fever	HP:0040282	ORPHA:331206
5897	RAG2	HP:0001903	Anemia	-	OMIM:603554
5897	RAG2	HP:0001903	Anemia	HP:0040283	ORPHA:39041
5897	RAG2	HP:0004315	Decreased circulating IgG concentration	HP:0040281	ORPHA:331206
5897	RAG2	HP:0004315	Decreased circulating IgG concentration	-	OMIM:233650
5897	RAG2	HP:0004332	Abnormal lymphocyte morphology	HP:0040281	ORPHA:39041
5897	RAG2	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:331206
5897	RAG2	HP:0003075	Hypoproteinemia	-	OMIM:603554
5897	RAG2	HP:0004385	Protracted diarrhea	HP:0040282	ORPHA:331206
5897	RAG2	HP:0000778	Hypoplasia of the thymus	-	OMIM:603554
5897	RAG2	HP:0004430	Severe combined immunodeficiency	-	OMIM:601457
5897	RAG2	HP:0004430	Severe combined immunodeficiency	HP:0040281	ORPHA:39041
5897	RAG2	HP:0004429	Recurrent viral infections	-	OMIM:603554
5897	RAG2	HP:0004429	Recurrent viral infections	HP:0040282	ORPHA:331206
5897	RAG2	HP:0003139	Panhypogammaglobulinemia	-	OMIM:601457
5897	RAG2	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:39041
5897	RAG2	HP:0040089	Abnormal total natural killer cell count	HP:0040283	ORPHA:331206
5897	RAG2	HP:0045080	Decreased CD3+ T cell proportion	HP:0040282	ORPHA:331206
5897	RAG2	HP:0000980	Pallor	HP:0040283	ORPHA:331206
5897	RAG2	HP:0000989	Pruritus	HP:0040282	ORPHA:39041
5897	RAG2	HP:0000988	Skin rash	HP:0040283	ORPHA:331206
5897	RAG2	HP:0000958	Dry skin	HP:0040282	ORPHA:39041
5897	RAG2	HP:0000969	Edema	HP:0040282	ORPHA:39041
5897	RAG2	HP:0000944	Abnormal metaphysis morphology	HP:0040283	ORPHA:39041
5897	RAG2	HP:0000265	Mastoiditis	-	OMIM:601457
5897	RAG2	HP:0001596	Alopecia	-	OMIM:603554
5897	RAG2	HP:0001596	Alopecia	HP:0040281	ORPHA:39041
5897	RAG2	HP:0031402	Reduced antigen-specific T cell proliferation	HP:0040282	ORPHA:331206
5897	RAG2	HP:0002840	Lymphadenitis	HP:0040283	ORPHA:331206
5897	RAG2	HP:0001508	Failure to thrive	-	OMIM:601457
5897	RAG2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:331206
5897	RAG2	HP:0001508	Failure to thrive	-	OMIM:603554
5897	RAG2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:39041
5897	RAG2	HP:0002850	Decreased circulating total IgM	HP:0040281	ORPHA:331206
5897	RAG2	HP:0031381	Decreased mitogen-induced T-cell proliferation	HP:0040282	ORPHA:331206
5897	RAG2	HP:0002841	Recurrent fungal infections	HP:0040282	ORPHA:331206
5897	RAG2	HP:0002841	Recurrent fungal infections	-	OMIM:603554
5897	RAG2	HP:0000388	Otitis media	-	OMIM:601457
5897	RAG2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:331206
5897	RAG2	HP:0002960	Autoimmunity	HP:0040283	ORPHA:331206
5897	RAG2	HP:0002960	Autoimmunity	HP:0040283	ORPHA:39041
5897	RAG2	HP:0005387	Combined immunodeficiency	-	OMIM:233650
5897	RAG2	HP:0005365	Severe B lymphocytopenia	-	OMIM:603554
5897	RAG2	HP:0001744	Splenomegaly	-	OMIM:603554
5897	RAG2	HP:0001744	Splenomegaly	HP:0040282	ORPHA:39041
5897	RAG2	HP:0005403	Decreased total T cell count	-	OMIM:601457
5897	RAG2	HP:0005403	Decreased total T cell count	-	OMIM:233650
5897	RAG2	HP:0000509	Conjunctivitis	-	OMIM:601457
5897	RAG2	HP:0001831	Short toe	HP:0040283	ORPHA:39041
5897	RAG2	HP:0005390	Recurrent opportunistic infections	-	OMIM:601457
5897	RAG2	HP:0001890	Autoimmune hemolytic anemia	HP:0040283	ORPHA:331206
5897	RAG2	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:331206
5897	RAG2	HP:0001880	Increased total eosinophil count	HP:0040282	ORPHA:39041
5897	RAG2	HP:0001880	Increased total eosinophil count	-	OMIM:603554
5897	RAG2	HP:0001880	Increased total eosinophil count	HP:0040283	ORPHA:331206
5897	RAG2	HP:0001873	Thrombocytopenia	-	OMIM:603554
5897	RAG2	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:331206
5898	RALA	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5898	RALA	HP:0001293	Cranial nerve compression	-	OMIM:131300
5898	RALA	HP:0001250	Seizure	6/11	OMIM:619311
5898	RALA	HP:0001252	Hypotonia	10/11	OMIM:619311
5898	RALA	HP:0001252	Hypotonia	2/7	OMIM:615777
5898	RALA	HP:0001249	Intellectual disability	8/8	OMIM:619311
5898	RALA	HP:0001249	Intellectual disability	5/7	OMIM:615777
5898	RALA	HP:0001263	Global developmental delay	11/11	OMIM:619311
5898	RALA	HP:0001263	Global developmental delay	-	OMIM:615777
5898	RALA	HP:0002515	Waddling gait	54/102	OMIM:131300
5898	RALA	HP:0001382	Joint hypermobility	-	OMIM:615777
5898	RALA	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5898	RALA	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5898	RALA	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5898	RALA	HP:0001324	Muscle weakness	40/96	OMIM:131300
5898	RALA	HP:0001344	Absent speech	7/11	OMIM:619311
5898	RALA	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5898	RALA	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5898	RALA	HP:0000006	Autosomal dominant inheritance	-	OMIM:619311
5898	RALA	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5898	RALA	HP:0002650	Scoliosis	12/14	OMIM:131300
5898	RALA	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5898	RALA	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5898	RALA	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5898	RALA	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5898	RALA	HP:0000175	Cleft palate	2/7	OMIM:615777
5898	RALA	HP:0004691	2-3 toe syndactyly	2/6	OMIM:619311
5898	RALA	HP:0003388	Easy fatigability	36/76	OMIM:131300
5898	RALA	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5898	RALA	HP:0002263	Exaggerated cupid's bow	-	OMIM:619311
5898	RALA	HP:0003577	Congenital onset	-	OMIM:619311
5898	RALA	HP:0003510	Severe short stature	7/7	OMIM:615777
5898	RALA	HP:0002315	Headache	-	OMIM:131300
5898	RALA	HP:0004976	Knee dislocation	6/7	OMIM:615777
5898	RALA	HP:0009803	Short phalanx of finger	-	OMIM:615777
5898	RALA	HP:0009763	Limb pain	63/92	OMIM:131300
5898	RALA	HP:0003621	Juvenile onset	-	OMIM:131300
5898	RALA	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5898	RALA	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5898	RALA	HP:6001056	Out-toeing	-	OMIM:131300
5898	RALA	HP:0000651	Diplopia	-	OMIM:131300
5898	RALA	HP:0001956	Truncal obesity	2/7	OMIM:615777
5898	RALA	HP:0001903	Anemia	HP:0040283	OMIM:131300
5898	RALA	HP:0010049	Short metacarpal	-	OMIM:615777
5898	RALA	HP:0000678	Dental crowding	-	OMIM:615777
5898	RALA	HP:0000670	Carious teeth	-	OMIM:131300
5898	RALA	HP:0011304	Broad thumb	2/7	OMIM:615777
5898	RALA	HP:0000668	Hypodontia	-	OMIM:615777
5898	RALA	HP:0000664	Synophrys	-	OMIM:615777
5898	RALA	HP:0004396	Poor appetite	-	OMIM:131300
5898	RALA	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5898	RALA	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5898	RALA	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5898	RALA	HP:0003026	Short long bone	7/7	OMIM:615777
5898	RALA	HP:0031936	Delayed ability to walk	8/11	OMIM:619311
5898	RALA	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5898	RALA	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5898	RALA	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5898	RALA	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5898	RALA	HP:0000750	Delayed speech and language development	11/11	OMIM:619311
5898	RALA	HP:0000750	Delayed speech and language development	-	OMIM:615777
5898	RALA	HP:0000729	Autistic behavior	3/3	OMIM:619311
5898	RALA	HP:0011461	Fetal onset	7/7	OMIM:615777
5898	RALA	HP:0000774	Narrow chest	2/7	OMIM:615777
5898	RALA	HP:0000926	Platyspondyly	1/7	OMIM:615777
5898	RALA	HP:0003180	Flat acetabular roof	-	OMIM:615777
5898	RALA	HP:0004482	Relative macrocephaly	-	OMIM:615777
5898	RALA	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5898	RALA	HP:0000823	Delayed puberty	-	OMIM:131300
5898	RALA	HP:0000894	Short clavicles	-	OMIM:615777
5898	RALA	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5898	RALA	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5898	RALA	HP:0000286	Epicanthus	-	OMIM:619311
5898	RALA	HP:0000286	Epicanthus	1/7	OMIM:615777
5898	RALA	HP:0000280	Coarse facial features	2/7	OMIM:615777
5898	RALA	HP:0002827	Hip dislocation	3/7	OMIM:615777
5898	RALA	HP:0030084	Clinodactyly	3/6	OMIM:619311
5898	RALA	HP:0000252	Microcephaly	-	OMIM:615777
5898	RALA	HP:0000219	Thin upper lip vermilion	-	OMIM:619311
5898	RALA	HP:0002857	Genu valgum	-	OMIM:131300
5898	RALA	HP:0001533	Slender build	-	OMIM:131300
5898	RALA	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5898	RALA	HP:0007807	Optic nerve compression	-	OMIM:131300
5898	RALA	HP:0012368	Flat face	7/7	OMIM:615777
5898	RALA	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5898	RALA	HP:0000365	Hearing impairment	10/67	OMIM:131300
5898	RALA	HP:0000358	Posteriorly rotated ears	-	OMIM:619311
5898	RALA	HP:0000369	Low-set ears	-	OMIM:619311
5898	RALA	HP:0000343	Long philtrum	1/7	OMIM:615777
5898	RALA	HP:0011001	Increased bone mineral density	-	OMIM:131300
5898	RALA	HP:0000311	Round face	2/7	OMIM:615777
5898	RALA	HP:0000322	Short philtrum	-	OMIM:619311
5898	RALA	HP:0002970	Genu varum	-	OMIM:615777
5898	RALA	HP:0000307	Pointed chin	-	OMIM:619311
5898	RALA	HP:0000303	Mandibular prognathia	-	OMIM:131300
5898	RALA	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5898	RALA	HP:0000463	Anteverted nares	-	OMIM:619311
5898	RALA	HP:0000470	Short neck	1/7	OMIM:615777
5898	RALA	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5898	RALA	HP:0001763	Pes planus	1/7	OMIM:615777
5898	RALA	HP:0000431	Wide nasal bridge	-	OMIM:619311
5898	RALA	HP:0001840	Metatarsus adductus	-	OMIM:615777
5898	RALA	HP:0000520	Proptosis	2/4	OMIM:131300
5898	RALA	HP:0000520	Proptosis	7/7	OMIM:615777
5898	RALA	HP:0000508	Ptosis	-	OMIM:619311
5898	RALA	HP:0000592	Blue sclerae	2/7	OMIM:615777
5898	RALA	HP:0011228	Horizontal eyebrow	-	OMIM:619311
5898	RALA	HP:0011220	Prominent forehead	-	OMIM:619311
5898	RALA	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5898	RALA	HP:0012514	Lower limb pain	4/4	OMIM:131300
5903	RANBP2	HP:0002445	Tetraplegia	HP:0040283	OMIM:608033
5903	RANBP2	HP:0001298	Encephalopathy	-	OMIM:608033
5903	RANBP2	HP:0001276	Hypertonia	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0001276	Hypertonia	-	OMIM:608033
5903	RANBP2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0001250	Seizure	-	OMIM:608033
5903	RANBP2	HP:0001250	Seizure	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0001260	Dysarthria	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0001257	Spasticity	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0001259	Coma	HP:0040281	ORPHA:88619
5903	RANBP2	HP:0001259	Coma	-	OMIM:608033
5903	RANBP2	HP:0003829	Typified by incomplete penetrance	-	OMIM:608033
5903	RANBP2	HP:0002510	Spastic tetraplegia	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0002510	Spastic tetraplegia	-	OMIM:608033
5903	RANBP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:608033
5903	RANBP2	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0025404	Abnormal visual fixation	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0002715	Abnormality of the immune system	-	OMIM:608033
5903	RANBP2	HP:0002013	Vomiting	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0002090	Pneumonia	-	OMIM:608033
5903	RANBP2	HP:0002063	Rigidity	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0002181	Cerebral edema	-	OMIM:608033
5903	RANBP2	HP:0002181	Cerebral edema	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0002171	Gliosis	-	OMIM:608033
5903	RANBP2	HP:0002171	Gliosis	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0011887	Choroid hemorrhage	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0003593	Infantile onset	-	OMIM:608033
5903	RANBP2	HP:0010663	Abnormal thalamus morphology	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0002376	Developmental regression	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0006846	Acute encephalopathy	HP:0040281	ORPHA:88619
5903	RANBP2	HP:0001945	Fever	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0031982	Abnormal putamen morphology	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0012747	Abnormal brainstem MRI signal intensity	HP:0040282	ORPHA:88619
5903	RANBP2	HP:0002922	Increased CSF protein concentration	-	OMIM:608033
5903	RANBP2	HP:0002922	Increased CSF protein concentration	HP:0040281	ORPHA:88619
5908	RAP1B	HP:0001156	Brachydactyly	2/3	OMIM:620654
5908	RAP1B	HP:0001159	Syndactyly	1/3	OMIM:620654
5908	RAP1B	HP:0010880	Increased nuchal translucency	1/5	OMIM:620654
5908	RAP1B	HP:0001270	Motor delay	3/5	OMIM:620654
5908	RAP1B	HP:0001256	Intellectual disability, mild	4/4	OMIM:620654
5908	RAP1B	HP:0001252	Hypotonia	4/4	OMIM:620654
5908	RAP1B	HP:0001263	Global developmental delay	2/2	OMIM:620654
5908	RAP1B	HP:0000089	Renal hypoplasia	1/1	OMIM:620654
5908	RAP1B	HP:0000076	Vesicoureteral reflux	1/1	OMIM:620654
5908	RAP1B	HP:0001385	Hip dysplasia	1/2	OMIM:620654
5908	RAP1B	HP:0001382	Joint hypermobility	1/1	OMIM:620654
5908	RAP1B	HP:0000023	Inguinal hernia	1/5	OMIM:620654
5908	RAP1B	HP:0033725	Thin corpus callosum	1/1	OMIM:620654
5908	RAP1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:620654
5908	RAP1B	HP:0001320	Cerebellar vermis hypoplasia	2/2	OMIM:620654
5908	RAP1B	HP:0002616	Aortic root aneurysm	2/4	OMIM:620654
5908	RAP1B	HP:0000194	Open mouth	1/5	OMIM:620654
5908	RAP1B	HP:0000122	Unilateral renal agenesis	1/2	OMIM:620654
5908	RAP1B	HP:0002779	Tracheomalacia	1/3	OMIM:620654
5908	RAP1B	HP:0011800	Midface retrusion	2/5	OMIM:620654
5908	RAP1B	HP:0002119	Ventriculomegaly	1/1	OMIM:620654
5908	RAP1B	HP:0003577	Congenital onset	1/1	OMIM:620654
5908	RAP1B	HP:0002205	Recurrent respiratory infections	1/3	OMIM:620654
5908	RAP1B	HP:0002282	Gray matter heterotopia	2/2	OMIM:620654
5908	RAP1B	HP:0011968	Feeding difficulties	3/5	OMIM:620654
5908	RAP1B	HP:0002389	Cavum septum pellucidum	1/1	OMIM:620654
5908	RAP1B	HP:0003623	Neonatal onset	1/1	OMIM:620654
5908	RAP1B	HP:0000639	Nystagmus	1/5	OMIM:620654
5908	RAP1B	HP:0000612	Iris coloboma	1/5	OMIM:620654
5908	RAP1B	HP:0001903	Anemia	3/4	OMIM:620654
5908	RAP1B	HP:0000678	Dental crowding	1/5	OMIM:620654
5908	RAP1B	HP:0000685	Hypoplasia of teeth	1/5	OMIM:620654
5908	RAP1B	HP:0004322	Short stature	1/2	OMIM:620654
5908	RAP1B	HP:0030674	Antenatal onset	1/2	OMIM:620654
5908	RAP1B	HP:0012745	Short palpebral fissure	2/5	OMIM:620654
5908	RAP1B	HP:0000768	Pectus carinatum	1/5	OMIM:620654
5908	RAP1B	HP:0000750	Delayed speech and language development	3/4	OMIM:620654
5908	RAP1B	HP:0011463	Childhood onset	1/2	OMIM:620654
5908	RAP1B	HP:0040080	Anteverted ears	1/5	OMIM:620654
5908	RAP1B	HP:0034396	Hippocampal malrotation	1/1	OMIM:620654
5908	RAP1B	HP:0045075	Sparse eyebrow	2/5	OMIM:620654
5908	RAP1B	HP:0034323	Reduced circulating growth hormone concentration	1/1	OMIM:620654
5908	RAP1B	HP:0000958	Dry skin	1/1	OMIM:620654
5908	RAP1B	HP:0000286	Epicanthus	1/5	OMIM:620654
5908	RAP1B	HP:0000278	Retrognathia	1/5	OMIM:620654
5908	RAP1B	HP:0000219	Thin upper lip vermilion	1/5	OMIM:620654
5908	RAP1B	HP:0000218	High palate	1/5	OMIM:620654
5908	RAP1B	HP:0001537	Umbilical hernia	1/5	OMIM:620654
5908	RAP1B	HP:0001513	Obesity	1/1	OMIM:620654
5908	RAP1B	HP:0000384	Preauricular skin tag	1/5	OMIM:620654
5908	RAP1B	HP:0000358	Posteriorly rotated ears	2/5	OMIM:620654
5908	RAP1B	HP:0000369	Low-set ears	3/5	OMIM:620654
5908	RAP1B	HP:0000343	Long philtrum	2/5	OMIM:620654
5908	RAP1B	HP:0000347	Micrognathia	1/5	OMIM:620654
5908	RAP1B	HP:0000319	Smooth philtrum	1/5	OMIM:620654
5908	RAP1B	HP:0001647	Bicuspid aortic valve	1/4	OMIM:620654
5908	RAP1B	HP:0000316	Hypertelorism	1/5	OMIM:620654
5908	RAP1B	HP:0001643	Patent ductus arteriosus	1/4	OMIM:620654
5908	RAP1B	HP:0001642	Pulmonic stenosis	1/4	OMIM:620654
5908	RAP1B	HP:0001629	Ventricular septal defect	1/5	OMIM:620654
5908	RAP1B	HP:0000403	Recurrent otitis media	1/3	OMIM:620654
5908	RAP1B	HP:0001714	Ventricular hypertrophy	1/4	OMIM:620654
5908	RAP1B	HP:0005280	Depressed nasal bridge	2/5	OMIM:620654
5908	RAP1B	HP:0000483	Astigmatism	1/5	OMIM:620654
5908	RAP1B	HP:0000480	Retinal coloboma	1/5	OMIM:620654
5908	RAP1B	HP:0000494	Downslanted palpebral fissures	0/5	OMIM:620654
5908	RAP1B	HP:0000414	Bulbous nose	1/5	OMIM:620654
5908	RAP1B	HP:0000426	Prominent nasal bridge	1/5	OMIM:620654
5908	RAP1B	HP:0011272	Underdeveloped tragus	1/1	OMIM:620654
5908	RAP1B	HP:0005484	Secondary microcephaly	4/4	OMIM:620654
5908	RAP1B	HP:0000518	Cataract	1/5	OMIM:620654
5908	RAP1B	HP:0000582	Upslanted palpebral fissure	2/5	OMIM:620654
5908	RAP1B	HP:0001888	Decreased total lymphocyte count	2/3	OMIM:620654
5908	RAP1B	HP:0000540	Hypermetropia	1/5	OMIM:620654
5908	RAP1B	HP:0001882	Decreased total leukocyte count	3/3	OMIM:620654
5908	RAP1B	HP:0001873	Thrombocytopenia	5/5	OMIM:620654
5908	RAP1B	HP:0001876	Pancytopenia	1/2	OMIM:620654
5910	RAP1GDS1	HP:0002474	Expressive language delay	4/4	OMIM:620655
5910	RAP1GDS1	HP:0010863	Receptive language delay	0/4	OMIM:620655
5910	RAP1GDS1	HP:0001270	Motor delay	5/5	OMIM:620655
5910	RAP1GDS1	HP:0001250	Seizure	0/1	OMIM:620655
5910	RAP1GDS1	HP:0001249	Intellectual disability	4/4	OMIM:620655
5910	RAP1GDS1	HP:0001265	Hyporeflexia	2/2	OMIM:620655
5910	RAP1GDS1	HP:0001263	Global developmental delay	5/5	OMIM:620655
5910	RAP1GDS1	HP:0001258	Spastic paraplegia	1/1	OMIM:620655
5910	RAP1GDS1	HP:0002553	Highly arched eyebrow	3/3	OMIM:620655
5910	RAP1GDS1	HP:0000085	Horseshoe kidney	1/4	OMIM:620655
5910	RAP1GDS1	HP:0001382	Joint hypermobility	1/1	OMIM:620655
5910	RAP1GDS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620655
5910	RAP1GDS1	HP:0008936	Axial hypotonia	5/5	OMIM:620655
5910	RAP1GDS1	HP:0002069	Bilateral tonic-clonic seizure	1/3	OMIM:620655
5910	RAP1GDS1	HP:0002188	Delayed CNS myelination	1/1	OMIM:620655
5910	RAP1GDS1	HP:0003593	Infantile onset	3/4	OMIM:620655
5910	RAP1GDS1	HP:0003623	Neonatal onset	1/4	OMIM:620655
5910	RAP1GDS1	HP:0004322	Short stature	1/1	OMIM:620655
5910	RAP1GDS1	HP:0000718	Aggressive behavior	1/1	OMIM:620655
5910	RAP1GDS1	HP:0030863	Nasal flaring	1/1	OMIM:620655
5910	RAP1GDS1	HP:0000278	Retrognathia	4/4	OMIM:620655
5910	RAP1GDS1	HP:0000252	Microcephaly	1/1	OMIM:620655
5910	RAP1GDS1	HP:0000233	Thin vermilion border	2/2	OMIM:620655
5910	RAP1GDS1	HP:0000369	Low-set ears	1/1	OMIM:620655
5910	RAP1GDS1	HP:0000348	High forehead	1/1	OMIM:620655
5910	RAP1GDS1	HP:0000319	Smooth philtrum	3/3	OMIM:620655
5910	RAP1GDS1	HP:0000316	Hypertelorism	1/1	OMIM:620655
5910	RAP1GDS1	HP:0000322	Short philtrum	2/2	OMIM:620655
5910	RAP1GDS1	HP:0000325	Triangular face	2/2	OMIM:620655
5910	RAP1GDS1	HP:0000414	Bulbous nose	3/3	OMIM:620655
5910	RAP1GDS1	HP:0001762	Talipes equinovarus	2/4	OMIM:620655
5913	RAPSN	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:994
5913	RAPSN	HP:0001252	Hypotonia	2/2	OMIM:618388
5913	RAPSN	HP:0001252	Hypotonia	-	OMIM:616326
5913	RAPSN	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:994
5913	RAPSN	HP:0002527	Falls	2/4	OMIM:616326
5913	RAPSN	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0001371	Flexion contracture	2/2	OMIM:618388
5913	RAPSN	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:994
5913	RAPSN	HP:0000028	Cryptorchidism	1/1	OMIM:618388
5913	RAPSN	HP:0008872	Feeding difficulties in infancy	2/2	OMIM:618388
5913	RAPSN	HP:0410011	Abnormality of masticatory muscle	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0001324	Muscle weakness	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0000007	Autosomal recessive inheritance	-	OMIM:618388
5913	RAPSN	HP:0000007	Autosomal recessive inheritance	-	OMIM:616326
5913	RAPSN	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:994
5913	RAPSN	HP:0002650	Scoliosis	HP:0040282	ORPHA:994
5913	RAPSN	HP:0002650	Scoliosis	HP:0040283	ORPHA:98913
5913	RAPSN	HP:0001319	Neonatal hypotonia	-	OMIM:616326
5913	RAPSN	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0002643	Neonatal respiratory distress	1/4	OMIM:616326
5913	RAPSN	HP:0031108	Triceps weakness	HP:0040283	ORPHA:98913
5913	RAPSN	HP:0000175	Cleft palate	HP:0040282	ORPHA:994
5913	RAPSN	HP:0000175	Cleft palate	1/2	OMIM:618388
5913	RAPSN	HP:0001446	Abnormality of the musculature of the upper limbs	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:98913
5913	RAPSN	HP:0002033	Poor suck	3/4	OMIM:616326
5913	RAPSN	HP:0003324	Generalized muscle weakness	1/4	OMIM:616326
5913	RAPSN	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:994
5913	RAPSN	HP:0002093	Respiratory insufficiency	-	OMIM:616326
5913	RAPSN	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:994
5913	RAPSN	HP:0002093	Respiratory insufficiency	2/2	OMIM:618388
5913	RAPSN	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:98913
5913	RAPSN	HP:0003391	Gowers sign	2/4	OMIM:616326
5913	RAPSN	HP:0003388	Easy fatigability	4/4	OMIM:616326
5913	RAPSN	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0010489	Absent palmar crease	HP:0040281	ORPHA:994
5913	RAPSN	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0003443	Decreased size of nerve terminals	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0003402	Decreased miniature endplate potentials	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	3/3	OMIM:616326
5913	RAPSN	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:98913
5913	RAPSN	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:994
5913	RAPSN	HP:0003577	Congenital onset	4/4	OMIM:616326
5913	RAPSN	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0011968	Feeding difficulties	-	OMIM:616326
5913	RAPSN	HP:0010628	Facial palsy	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0011947	Respiratory tract infection	1/4	OMIM:616326
5913	RAPSN	HP:0001059	Pterygium	HP:0040283	ORPHA:994
5913	RAPSN	HP:0002375	Hypokinesia	HP:0040281	ORPHA:994
5913	RAPSN	HP:0002329	Drowsiness	HP:0040283	ORPHA:98913
5913	RAPSN	HP:0010804	Tented upper lip vermilion	2/2	OMIM:618388
5913	RAPSN	HP:0033454	Tube feeding	2/4	OMIM:616326
5913	RAPSN	HP:0002304	Akinesia	HP:0040281	ORPHA:994
5913	RAPSN	HP:0009077	Weakness of long finger extensor muscles	HP:0040283	ORPHA:98913
5913	RAPSN	HP:0000651	Diplopia	HP:0040283	ORPHA:98913
5913	RAPSN	HP:0009046	Difficulty running	1/4	OMIM:616326
5913	RAPSN	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0001989	Fetal akinesia sequence	HP:0040281	ORPHA:994
5913	RAPSN	HP:0001989	Fetal akinesia sequence	-	OMIM:618388
5913	RAPSN	HP:0005659	Thoracic kyphoscoliosis	HP:0040283	ORPHA:98913
5913	RAPSN	HP:0012764	Orthopnea	HP:0040283	ORPHA:98913
5913	RAPSN	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0000961	Cyanosis	HP:0040283	ORPHA:98913
5913	RAPSN	HP:0000276	Long face	-	OMIM:616326
5913	RAPSN	HP:0002828	Multiple joint contractures	HP:0040281	ORPHA:994
5913	RAPSN	HP:0002804	Arthrogryposis multiplex congenita	1/4	OMIM:616326
5913	RAPSN	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:994
5913	RAPSN	HP:0002878	Respiratory failure	HP:0040283	ORPHA:98913
5913	RAPSN	HP:0000218	High palate	2/4	OMIM:616326
5913	RAPSN	HP:0000218	High palate	2/2	OMIM:618388
5913	RAPSN	HP:0000218	High palate	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:98913
5913	RAPSN	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:994
5913	RAPSN	HP:0001558	Decreased fetal movement	2/4	OMIM:616326
5913	RAPSN	HP:0001558	Decreased fetal movement	2/2	OMIM:618388
5913	RAPSN	HP:0001508	Failure to thrive	1/4	OMIM:616326
5913	RAPSN	HP:0031374	Ankle weakness	HP:0040283	ORPHA:98913
5913	RAPSN	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:994
5913	RAPSN	HP:0012378	Fatigue	2/4	OMIM:616326
5913	RAPSN	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	0/4	OMIM:616326
5913	RAPSN	HP:0005245	Intestinal hypoplasia	HP:0040283	ORPHA:994
5913	RAPSN	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040283	ORPHA:98913
5913	RAPSN	HP:0001612	Weak cry	1/2	OMIM:618388
5913	RAPSN	HP:0001612	Weak cry	4/4	OMIM:616326
5913	RAPSN	HP:0030199	Fatigable weakness of neck muscles	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:994
5913	RAPSN	HP:0000369	Low-set ears	2/2	OMIM:618388
5913	RAPSN	HP:0000347	Micrognathia	HP:0040281	ORPHA:994
5913	RAPSN	HP:0000347	Micrognathia	2/2	OMIM:618388
5913	RAPSN	HP:0000316	Hypertelorism	HP:0040282	ORPHA:994
5913	RAPSN	HP:0000316	Hypertelorism	2/2	OMIM:618388
5913	RAPSN	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:994
5913	RAPSN	HP:0000476	Cystic hygroma	HP:0040282	ORPHA:994
5913	RAPSN	HP:0000494	Downslanted palpebral fissures	2/2	OMIM:618388
5913	RAPSN	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0000475	Broad neck	-	OMIM:618388
5913	RAPSN	HP:0000431	Wide nasal bridge	2/2	OMIM:618388
5913	RAPSN	HP:0000508	Ptosis	4/4	OMIM:616326
5913	RAPSN	HP:0000508	Ptosis	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:98913
5913	RAPSN	HP:0012515	Hip flexor weakness	HP:0040283	ORPHA:98913
5914	RARA	HP:0031035	Chronic infection	HP:0040282	ORPHA:520
5914	RARA	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:520
5914	RARA	HP:0001324	Muscle weakness	HP:0040282	ORPHA:520
5914	RARA	HP:0002653	Bone pain	HP:0040283	ORPHA:520
5914	RARA	HP:0012135	Abnormal granulocytopoietic cell morphology	-	OMIM:612376
5914	RARA	HP:0025420	Diffuse alveolar hemorrhage	HP:0040283	ORPHA:520
5914	RARA	HP:0001442	Typified by somatic mosaicism	-	OMIM:612376
5914	RARA	HP:0031245	Productive cough	HP:0040283	ORPHA:520
5914	RARA	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:520
5914	RARA	HP:0002027	Abdominal pain	HP:0040283	ORPHA:520
5914	RARA	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:520
5914	RARA	HP:0002039	Anorexia	HP:0040282	ORPHA:520
5914	RARA	HP:0011900	Hypofibrinogenemia	HP:0040283	ORPHA:520
5914	RARA	HP:0100758	Gangrene	HP:0040284	ORPHA:520
5914	RARA	HP:0004836	Acute promyelocytic leukemia	-	OMIM:612376
5914	RARA	HP:0002321	Vertigo	HP:0040282	ORPHA:520
5914	RARA	HP:0100608	Metrorrhagia	HP:0040284	ORPHA:520
5914	RARA	HP:0005521	Disseminated intravascular coagulation	HP:0040282	ORPHA:520
5914	RARA	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:520
5914	RARA	HP:0001945	Fever	HP:0040282	ORPHA:520
5914	RARA	HP:0001903	Anemia	HP:0040282	ORPHA:520
5914	RARA	HP:0000790	Hematuria	HP:0040284	ORPHA:520
5914	RARA	HP:0010280	Stomatitis	HP:0040283	ORPHA:520
5914	RARA	HP:0000979	Purpura	HP:0040282	ORPHA:520
5914	RARA	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:520
5914	RARA	HP:0000967	Petechiae	HP:0040282	ORPHA:520
5914	RARA	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:520
5914	RARA	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:520
5914	RARA	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:520
5914	RARA	HP:0031364	Ecchymosis	HP:0040282	ORPHA:520
5914	RARA	HP:0012378	Fatigue	HP:0040282	ORPHA:520
5914	RARA	HP:0030140	Oral cavity bleeding	HP:0040283	ORPHA:520
5914	RARA	HP:0000421	Epistaxis	HP:0040282	ORPHA:520
5914	RARA	HP:0001824	Weight loss	HP:0040282	ORPHA:520
5914	RARA	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:520
5914	RARA	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:520
5914	RARA	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:520
5914	RARA	HP:0001876	Pancytopenia	HP:0040282	ORPHA:520
5914	RARA	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:520
5915	RARB	HP:0001249	Intellectual disability	1/1	OMIM:615524
5915	RARB	HP:0002566	Intestinal malrotation	2/7	OMIM:615524
5915	RARB	HP:0003811	Neonatal death	4/5	OMIM:615524
5915	RARB	HP:0000028	Cryptorchidism	1/5	OMIM:615524
5915	RARB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615524
5915	RARB	HP:0000006	Autosomal dominant inheritance	-	OMIM:615524
5915	RARB	HP:0000175	Cleft palate	1/7	OMIM:615524
5915	RARB	HP:0002089	Pulmonary hypoplasia	4/5	OMIM:615524
5915	RARB	HP:0003577	Congenital onset	7/7	OMIM:615524
5915	RARB	HP:0000776	Congenital diaphragmatic hernia	6/6	OMIM:615524
5915	RARB	HP:0000813	Bicornuate uterus	2/2	OMIM:615524
5915	RARB	HP:0000278	Retrognathia	-	OMIM:615524
5915	RARB	HP:0005156	Hypoplastic left atrium	HP:0040283	OMIM:615524
5915	RARB	HP:0000347	Micrognathia	-	OMIM:615524
5915	RARB	HP:0001629	Ventricular septal defect	-	OMIM:615524
5915	RARB	HP:0000455	Broad nasal tip	-	OMIM:615524
5915	RARB	HP:0000431	Wide nasal bridge	-	OMIM:615524
5915	RARB	HP:0000528	Anophthalmia	-	OMIM:615524
5915	RARB	HP:0000568	Microphthalmia	-	OMIM:615524
5917	RARS1	HP:0007281	Developmental stagnation	HP:0040282	ORPHA:438114
5917	RARS1	HP:0002421	Poor head control	HP:0040282	ORPHA:438114
5917	RARS1	HP:0002421	Poor head control	1/4	OMIM:616140
5917	RARS1	HP:0002415	Leukodystrophy	-	OMIM:616140
5917	RARS1	HP:0001270	Motor delay	1/4	OMIM:616140
5917	RARS1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:438114
5917	RARS1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:438114
5917	RARS1	HP:0001256	Intellectual disability, mild	2/2	OMIM:616140
5917	RARS1	HP:0001251	Ataxia	2/4	OMIM:616140
5917	RARS1	HP:0001251	Ataxia	HP:0040282	ORPHA:438114
5917	RARS1	HP:0001260	Dysarthria	HP:0040282	ORPHA:438114
5917	RARS1	HP:0001260	Dysarthria	1/4	OMIM:616140
5917	RARS1	HP:0001263	Global developmental delay	4/4	OMIM:616140
5917	RARS1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:438114
5917	RARS1	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:438114
5917	RARS1	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:438114
5917	RARS1	HP:0012043	Pendular nystagmus	1/4	OMIM:616140
5917	RARS1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:438114
5917	RARS1	HP:0001347	Hyperreflexia	-	OMIM:616140
5917	RARS1	HP:0001332	Dystonia	HP:0040282	ORPHA:438114
5917	RARS1	HP:0001332	Dystonia	1/4	OMIM:616140
5917	RARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616140
5917	RARS1	HP:0001310	Dysmetria	HP:0040282	ORPHA:438114
5917	RARS1	HP:0001310	Dysmetria	1/4	OMIM:616140
5917	RARS1	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:438114
5917	RARS1	HP:0008936	Axial hypotonia	1/4	OMIM:616140
5917	RARS1	HP:0002013	Vomiting	HP:0040283	ORPHA:438114
5917	RARS1	HP:0002080	Intention tremor	HP:0040282	ORPHA:438114
5917	RARS1	HP:0002080	Intention tremor	1/4	OMIM:616140
5917	RARS1	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:438114
5917	RARS1	HP:0002061	Lower limb spasticity	3/4	OMIM:616140
5917	RARS1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:438114
5917	RARS1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:616140
5917	RARS1	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:616140
5917	RARS1	HP:0002059	Cerebral atrophy	2/4	OMIM:616140
5917	RARS1	HP:0003487	Babinski sign	1/4	OMIM:616140
5917	RARS1	HP:0002151	Increased circulating lactate concentration	HP:0040283	ORPHA:438114
5917	RARS1	HP:0003593	Infantile onset	4/4	OMIM:616140
5917	RARS1	HP:0007024	Pseudobulbar paralysis	1/4	OMIM:616140
5917	RARS1	HP:0007024	Pseudobulbar paralysis	HP:0040283	ORPHA:438114
5917	RARS1	HP:0011968	Feeding difficulties	1/4	OMIM:616140
5917	RARS1	HP:0002395	Lower limb hyperreflexia	1/4	OMIM:616140
5917	RARS1	HP:0007153	Progressive extrapyramidal movement disorder	HP:0040282	ORPHA:438114
5917	RARS1	HP:0007179	Absent smooth pursuit	1/4	OMIM:616140
5917	RARS1	HP:0007179	Absent smooth pursuit	HP:0040283	ORPHA:438114
5917	RARS1	HP:0006808	Cerebral hypomyelination	HP:0040282	ORPHA:438114
5917	RARS1	HP:0006895	Lower limb hypertonia	HP:0040282	ORPHA:438114
5917	RARS1	HP:0000639	Nystagmus	4/4	OMIM:616140
5917	RARS1	HP:0000639	Nystagmus	HP:0040282	ORPHA:438114
5917	RARS1	HP:0000817	Reduced eye contact	HP:0040282	ORPHA:438114
5917	RARS1	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040282	ORPHA:438114
5917	RARS1	HP:0001583	Rotary nystagmus	1/4	OMIM:616140
5917	RARS1	HP:0000252	Microcephaly	1/4	OMIM:616140
5917	RARS1	HP:0000252	Microcephaly	HP:0040283	ORPHA:438114
5921	RASA1	HP:0025104	Capillary malformation	HP:0040282	ORPHA:90307
5921	RASA1	HP:0025104	Capillary malformation	48/50	OMIM:608354
5921	RASA1	HP:0002408	Cerebral arteriovenous malformation	HP:0040283	ORPHA:90307
5921	RASA1	HP:0007394	Prominent superficial blood vessels	HP:0040282	ORPHA:90307
5921	RASA1	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:90307
5921	RASA1	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:90307
5921	RASA1	HP:0000016	Urinary retention	HP:0040283	ORPHA:90307
5921	RASA1	HP:0007461	Hemangiomatosis	HP:0040284	ORPHA:90307
5921	RASA1	HP:0002671	Basal cell carcinoma	-	OMIM:605462
5921	RASA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
5921	RASA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:608354
5921	RASA1	HP:0002619	Varicose veins	HP:0040282	ORPHA:90307
5921	RASA1	HP:0002619	Varicose veins	-	OMIM:153400
5921	RASA1	HP:0002617	Vascular dilatation	HP:0040282	ORPHA:90307
5921	RASA1	HP:0031138	Abnormal circulating B-type natriuretic peptide concentration	HP:0040283	ORPHA:90307
5921	RASA1	HP:0025474	Erythematous plaque	HP:0040282	ORPHA:90307
5921	RASA1	HP:0000175	Cleft palate	5/39	OMIM:153400
5921	RASA1	HP:0008968	Muscle hypertrophy of the lower extremities	HP:0040282	ORPHA:90307
5921	RASA1	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:90307
5921	RASA1	HP:0032555	Bounding pulse	HP:0040282	ORPHA:90307
5921	RASA1	HP:0100553	Hemihypertrophy of lower limb	HP:0040282	ORPHA:90307
5921	RASA1	HP:0010484	Hypertrophy of the upper limb	HP:0040283	ORPHA:90307
5921	RASA1	HP:0003474	Somatic sensory dysfunction	HP:0040283	ORPHA:90307
5921	RASA1	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:90307
5921	RASA1	HP:0003418	Back pain	HP:0040283	ORPHA:90307
5921	RASA1	HP:0002196	Myelopathy	HP:0040283	ORPHA:90307
5921	RASA1	HP:0010550	Paraplegia	HP:0040284	ORPHA:90307
5921	RASA1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
5921	RASA1	HP:0100766	Abnormal lymphatic vessel morphology	HP:0040283	ORPHA:90307
5921	RASA1	HP:0009743	Distichiasis	42/42	OMIM:153400
5921	RASA1	HP:0100784	Peripheral arteriovenous fistula	HP:0040282	ORPHA:90307
5921	RASA1	HP:0100775	Dural ectasia	HP:0040283	ORPHA:90307
5921	RASA1	HP:0100749	Chest pain	HP:0040283	ORPHA:90307
5921	RASA1	HP:0002390	Spinal arteriovenous malformation	HP:0040283	ORPHA:90307
5921	RASA1	HP:0001004	Lymphedema	-	OMIM:153400
5921	RASA1	HP:0002315	Headache	HP:0040283	ORPHA:90307
5921	RASA1	HP:0100658	Cellulitis	2/6	OMIM:153400
5921	RASA1	HP:0200042	Skin ulcer	HP:0040283	ORPHA:90307
5921	RASA1	HP:0004948	Vascular tortuosity	HP:0040282	ORPHA:90307
5921	RASA1	HP:0004947	Arteriovenous fistula	HP:0040282	ORPHA:90307
5921	RASA1	HP:0004947	Arteriovenous fistula	2/50	OMIM:608354
5921	RASA1	HP:0005521	Disseminated intravascular coagulation	HP:0040283	ORPHA:90307
5921	RASA1	HP:0000613	Photophobia	10/49	OMIM:153400
5921	RASA1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
5921	RASA1	HP:0000656	Ectropion	2/43	OMIM:153400
5921	RASA1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
5921	RASA1	HP:0031939	Conus terminalis arteriovenous malformation	HP:0040283	ORPHA:90307
5921	RASA1	HP:0012721	Venous malformation	HP:0040282	ORPHA:90307
5921	RASA1	HP:0100026	Arteriovenous malformation	HP:0040281	ORPHA:90307
5921	RASA1	HP:0100026	Arteriovenous malformation	8/50	OMIM:608354
5921	RASA1	HP:0012804	Corneal ulceration	-	OMIM:153400
5921	RASA1	HP:0030833	Neck pain	HP:0040283	ORPHA:90307
5921	RASA1	HP:0010310	Chylothorax	1/6	OMIM:153400
5921	RASA1	HP:0040189	Scaling skin	HP:0040283	ORPHA:90307
5921	RASA1	HP:0011675	Arrhythmia	-	OMIM:153400
5921	RASA1	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:90307
5921	RASA1	HP:0002814	Abnormality of the lower limb	HP:0040281	ORPHA:90307
5921	RASA1	HP:0002808	Kyphosis	2/5	OMIM:153400
5921	RASA1	HP:0000204	Cleft upper lip	-	OMIM:153400
5921	RASA1	HP:0002936	Distal sensory impairment	HP:0040283	ORPHA:90307
5921	RASA1	HP:0006489	Abnormal femoral metaphysis morphology	HP:0040283	ORPHA:90307
5921	RASA1	HP:0000347	Micrognathia	2/5	OMIM:153400
5921	RASA1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
5921	RASA1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
5921	RASA1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
5921	RASA1	HP:0005306	Capillary hemangioma	-	OMIM:608354
5921	RASA1	HP:0001722	High-output congestive heart failure	HP:0040282	ORPHA:90307
5921	RASA1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
5921	RASA1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
5921	RASA1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
5921	RASA1	HP:0000465	Webbed neck	6/43	OMIM:153400
5921	RASA1	HP:0000509	Conjunctivitis	-	OMIM:153400
5921	RASA1	HP:0000508	Ptosis	2/39	OMIM:153400
5921	RASA1	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:90307
5921	RASA1	HP:0000568	Microphthalmia	1/6	OMIM:153400
5921	RASA1	HP:0012531	Pain	HP:0040283	ORPHA:90307
5921	RASA1	HP:0012514	Lower limb pain	HP:0040283	ORPHA:90307
5922	RASA2	HP:0001156	Brachydactyly	HP:0040283	ORPHA:648
5922	RASA2	HP:0010946	Dilatation of the renal pelvis	HP:0040283	ORPHA:648
5922	RASA2	HP:0001252	Hypotonia	HP:0040282	ORPHA:648
5922	RASA2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:648
5922	RASA2	HP:0001260	Dysarthria	HP:0040281	ORPHA:648
5922	RASA2	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:648
5922	RASA2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:648
5922	RASA2	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:648
5922	RASA2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:648
5922	RASA2	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:648
5922	RASA2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:648
5922	RASA2	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:648
5922	RASA2	HP:0001328	Specific learning disability	HP:0040283	ORPHA:648
5922	RASA2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:648
5922	RASA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
5922	RASA2	HP:0002650	Scoliosis	HP:0040282	ORPHA:648
5922	RASA2	HP:0002619	Varicose veins	-	OMIM:153400
5922	RASA2	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:648
5922	RASA2	HP:0000175	Cleft palate	5/39	OMIM:153400
5922	RASA2	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:648
5922	RASA2	HP:0011800	Midface retrusion	HP:0040281	ORPHA:648
5922	RASA2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:648
5922	RASA2	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:648
5922	RASA2	HP:0011869	Abnormal platelet function	HP:0040282	ORPHA:648
5922	RASA2	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:648
5922	RASA2	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
5922	RASA2	HP:0002208	Coarse hair	HP:0040282	ORPHA:648
5922	RASA2	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:648
5922	RASA2	HP:0009743	Distichiasis	42/42	OMIM:153400
5922	RASA2	HP:0001004	Lymphedema	HP:0040283	ORPHA:648
5922	RASA2	HP:0001004	Lymphedema	-	OMIM:153400
5922	RASA2	HP:0100658	Cellulitis	2/6	OMIM:153400
5922	RASA2	HP:0100625	Enlarged thorax	HP:0040281	ORPHA:648
5922	RASA2	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:648
5922	RASA2	HP:0000639	Nystagmus	HP:0040283	ORPHA:648
5922	RASA2	HP:0000635	Blue irides	HP:0040282	ORPHA:648
5922	RASA2	HP:0000613	Photophobia	10/49	OMIM:153400
5922	RASA2	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:648
5922	RASA2	HP:0011381	Aplasia of the semicircular canal	HP:0040283	ORPHA:648
5922	RASA2	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
5922	RASA2	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:648
5922	RASA2	HP:0000656	Ectropion	2/43	OMIM:153400
5922	RASA2	HP:0004322	Short stature	HP:0040281	ORPHA:648
5922	RASA2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:648
5922	RASA2	HP:0003011	Abnormality of the musculature	-	OMIM:153400
5922	RASA2	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:648
5922	RASA2	HP:0000768	Pectus carinatum	HP:0040281	ORPHA:648
5922	RASA2	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:648
5922	RASA2	HP:0003115	Abnormal EKG	HP:0040281	ORPHA:648
5922	RASA2	HP:0004415	Pulmonary artery stenosis	HP:0040281	ORPHA:648
5922	RASA2	HP:0012804	Corneal ulceration	-	OMIM:153400
5922	RASA2	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:648
5922	RASA2	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:648
5922	RASA2	HP:0010310	Chylothorax	1/6	OMIM:153400
5922	RASA2	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:648
5922	RASA2	HP:0000938	Osteopenia	HP:0040283	ORPHA:648
5922	RASA2	HP:0011675	Arrhythmia	-	OMIM:153400
5922	RASA2	HP:0011675	Arrhythmia	HP:0040282	ORPHA:648
5922	RASA2	HP:0002808	Kyphosis	2/5	OMIM:153400
5922	RASA2	HP:0012209	Juvenile myelomonocytic leukemia	HP:0040283	ORPHA:648
5922	RASA2	HP:0000218	High palate	HP:0040281	ORPHA:648
5922	RASA2	HP:0000204	Cleft upper lip	-	OMIM:153400
5922	RASA2	HP:0000391	Thickened helices	HP:0040281	ORPHA:648
5922	RASA2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:648
5922	RASA2	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:648
5922	RASA2	HP:0000348	High forehead	HP:0040281	ORPHA:648
5922	RASA2	HP:0000347	Micrognathia	2/5	OMIM:153400
5922	RASA2	HP:0000347	Micrognathia	HP:0040281	ORPHA:648
5922	RASA2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:648
5922	RASA2	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:648
5922	RASA2	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
5922	RASA2	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:648
5922	RASA2	HP:0000325	Triangular face	HP:0040281	ORPHA:648
5922	RASA2	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
5922	RASA2	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:648
5922	RASA2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:648
5922	RASA2	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
5922	RASA2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:648
5922	RASA2	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:648
5922	RASA2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:648
5922	RASA2	HP:0000486	Strabismus	HP:0040282	ORPHA:648
5922	RASA2	HP:0000476	Cystic hygroma	HP:0040281	ORPHA:648
5922	RASA2	HP:0000476	Cystic hygroma	2/43	OMIM:153400
5922	RASA2	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
5922	RASA2	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:648
5922	RASA2	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
5922	RASA2	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:648
5922	RASA2	HP:0000465	Webbed neck	HP:0040281	ORPHA:648
5922	RASA2	HP:0000465	Webbed neck	6/43	OMIM:153400
5922	RASA2	HP:0001743	Abnormality of the spleen	HP:0040282	ORPHA:648
5922	RASA2	HP:0000520	Proptosis	HP:0040281	ORPHA:648
5922	RASA2	HP:0000509	Conjunctivitis	-	OMIM:153400
5922	RASA2	HP:0000508	Ptosis	2/39	OMIM:153400
5922	RASA2	HP:0000508	Ptosis	HP:0040281	ORPHA:648
5922	RASA2	HP:0012569	Delayed menarche	HP:0040283	ORPHA:648
5922	RASA2	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:648
5922	RASA2	HP:0000568	Microphthalmia	1/6	OMIM:153400
5925	RB1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:1587
5925	RB1	HP:0009919	Retinoblastoma	HP:0040282	ORPHA:1587
5925	RB1	HP:0009919	Retinoblastoma	-	OMIM:180200
5925	RB1	HP:0009919	Retinoblastoma	-	OMIM:259500
5925	RB1	HP:0003745	Sporadic	-	OMIM:180200
5925	RB1	HP:0001252	Hypotonia	HP:0040282	ORPHA:1587
5925	RB1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1587
5925	RB1	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:1587
5925	RB1	HP:0001386	Joint swelling	HP:0040282	ORPHA:668
5925	RB1	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:1587
5925	RB1	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:1587
5925	RB1	HP:0002669	Osteosarcoma	-	OMIM:180200
5925	RB1	HP:0002669	Osteosarcoma	-	OMIM:259500
5925	RB1	HP:0002665	Lymphoma	-	OMIM:180200
5925	RB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:109800
5925	RB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180200
5925	RB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:182280
5925	RB1	HP:0000175	Cleft palate	-	OMIM:180200
5925	RB1	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:668
5925	RB1	HP:0002797	Osteolysis	HP:0040281	ORPHA:668
5925	RB1	HP:0002756	Pathologic fracture	HP:0040284	ORPHA:668
5925	RB1	HP:0001442	Typified by somatic mosaicism	-	OMIM:109800
5925	RB1	HP:0001442	Typified by somatic mosaicism	-	OMIM:180200
5925	RB1	HP:0001442	Typified by somatic mosaicism	-	OMIM:259500
5925	RB1	HP:0100526	Neoplasm of the lung	-	OMIM:182280
5925	RB1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1587
5925	RB1	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040283	ORPHA:1587
5925	RB1	HP:0009725	Bladder neoplasm	-	OMIM:109800
5925	RB1	HP:0010799	Pinealoma	-	OMIM:180200
5925	RB1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1587
5925	RB1	HP:0000612	Iris coloboma	HP:0040282	ORPHA:1587
5925	RB1	HP:0001945	Fever	HP:0040284	ORPHA:668
5925	RB1	HP:0001909	Leukemia	-	OMIM:180200
5925	RB1	HP:0004322	Short stature	HP:0040281	ORPHA:1587
5925	RB1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1587
5925	RB1	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:668
5925	RB1	HP:0011531	Vitritis	HP:0040283	OMIM:180200
5925	RB1	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:668
5925	RB1	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:668
5925	RB1	HP:0000286	Epicanthus	HP:0040282	ORPHA:1587
5925	RB1	HP:0012254	Ewing sarcoma	-	OMIM:180200
5925	RB1	HP:0000243	Trigonocephaly	HP:0040282	ORPHA:1587
5925	RB1	HP:0000252	Microcephaly	HP:0040281	ORPHA:1587
5925	RB1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:1587
5925	RB1	HP:0000391	Thickened helices	HP:0040281	ORPHA:1587
5925	RB1	HP:0007862	Retinal calcification	-	OMIM:180200
5925	RB1	HP:0006491	Abnormal tibial metaphysis morphology	HP:0040282	ORPHA:668
5925	RB1	HP:0006489	Abnormal femoral metaphysis morphology	HP:0040281	ORPHA:668
5925	RB1	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:1587
5925	RB1	HP:0000369	Low-set ears	HP:0040282	ORPHA:1587
5925	RB1	HP:0000347	Micrognathia	HP:0040282	ORPHA:1587
5925	RB1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1587
5925	RB1	HP:0007902	Vitreous hemorrhage	-	OMIM:180200
5925	RB1	HP:0000470	Short neck	HP:0040282	ORPHA:1587
5925	RB1	HP:0000465	Webbed neck	HP:0040283	ORPHA:1587
5925	RB1	HP:0000411	Protruding ear	HP:0040282	ORPHA:1587
5925	RB1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1587
5925	RB1	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:1587
5925	RB1	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:109800
5925	RB1	HP:0000518	Cataract	HP:0040282	ORPHA:1587
5925	RB1	HP:0001824	Weight loss	HP:0040284	ORPHA:668
5925	RB1	HP:0000508	Ptosis	HP:0040282	ORPHA:1587
5925	RB1	HP:0000555	Leukocoria	-	OMIM:180200
5925	RB1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:1587
5925	RB1	HP:0012531	Pain	HP:0040282	ORPHA:668
5927	KDM5A	HP:0410170	Hippocampal atrophy	1/5	OMIM:620820
5927	KDM5A	HP:0001288	Gait disturbance	1/9	OMIM:620820
5927	KDM5A	HP:0001250	Seizure	8/9	OMIM:620820
5927	KDM5A	HP:0001252	Hypotonia	6/9	OMIM:620820
5927	KDM5A	HP:0001251	Ataxia	2/9	OMIM:620820
5927	KDM5A	HP:0001249	Intellectual disability	9/9	OMIM:620820
5927	KDM5A	HP:0001263	Global developmental delay	8/9	OMIM:620820
5927	KDM5A	HP:0001344	Absent speech	7/8	OMIM:620820
5927	KDM5A	HP:0000006	Autosomal dominant inheritance	-	OMIM:620820
5927	KDM5A	HP:0012104	Parietal cortical atrophy	1/5	OMIM:620820
5927	KDM5A	HP:0004691	2-3 toe syndactyly	1/9	OMIM:620820
5927	KDM5A	HP:0002007	Frontal bossing	1/9	OMIM:620820
5927	KDM5A	HP:0002079	Hypoplasia of the corpus callosum	2/5	OMIM:620820
5927	KDM5A	HP:0010529	Echolalia	1/9	OMIM:620820
5927	KDM5A	HP:0011968	Feeding difficulties	6/9	OMIM:620820
5927	KDM5A	HP:0004209	Clinodactyly of the 5th finger	1/9	OMIM:620820
5927	KDM5A	HP:0000627	Posterior embryotoxon	1/9	OMIM:620820
5927	KDM5A	HP:0000670	Carious teeth	1/9	OMIM:620820
5927	KDM5A	HP:0006970	Periventricular leukomalacia	1/5	OMIM:620820
5927	KDM5A	HP:0000767	Pectus excavatum	1/9	OMIM:620820
5927	KDM5A	HP:0000729	Autistic behavior	7/7	OMIM:620820
5927	KDM5A	HP:0000252	Microcephaly	2/9	OMIM:620820
5927	KDM5A	HP:0000369	Low-set ears	2/9	OMIM:620820
5927	KDM5A	HP:0001680	Coarctation of aorta	1/9	OMIM:620820
5927	KDM5A	HP:0000347	Micrognathia	1/9	OMIM:620820
5927	KDM5A	HP:0000319	Smooth philtrum	1/9	OMIM:620820
5927	KDM5A	HP:0000316	Hypertelorism	2/9	OMIM:620820
5927	KDM5A	HP:0001629	Ventricular septal defect	1/9	OMIM:620820
5927	KDM5A	HP:0001631	Atrial septal defect	2/9	OMIM:620820
5927	KDM5A	HP:0000486	Strabismus	2/9	OMIM:620820
5927	KDM5A	HP:0000494	Downslanted palpebral fissures	1/9	OMIM:620820
5927	KDM5A	HP:0000463	Anteverted nares	1/9	OMIM:620820
5927	KDM5A	HP:0000455	Broad nasal tip	1/9	OMIM:620820
5927	KDM5A	HP:0000520	Proptosis	1/9	OMIM:620820
5927	KDM5A	HP:0001822	Hallux valgus	1/9	OMIM:620820
5932	RBBP8	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5932	RBBP8	HP:0001293	Cranial nerve compression	-	OMIM:131300
5932	RBBP8	HP:0001252	Hypotonia	2/7	OMIM:615777
5932	RBBP8	HP:0001249	Intellectual disability	HP:0040281	ORPHA:808
5932	RBBP8	HP:0001249	Intellectual disability	7/7	OMIM:251255
5932	RBBP8	HP:0001249	Intellectual disability	5/7	OMIM:615777
5932	RBBP8	HP:0001263	Global developmental delay	-	OMIM:251255
5932	RBBP8	HP:0001263	Global developmental delay	-	OMIM:615777
5932	RBBP8	HP:0007429	Few cafe-au-lait spots	-	OMIM:606744
5932	RBBP8	HP:0007352	Cerebellar calcifications	1/1	OMIM:606744
5932	RBBP8	HP:0002515	Waddling gait	54/102	OMIM:131300
5932	RBBP8	HP:0000086	Ectopic kidney	HP:0040283	OMIM:606744
5932	RBBP8	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:808
5932	RBBP8	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:808
5932	RBBP8	HP:0001382	Joint hypermobility	-	OMIM:615777
5932	RBBP8	HP:0000047	Hypospadias	-	OMIM:606744
5932	RBBP8	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:808
5932	RBBP8	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5932	RBBP8	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5932	RBBP8	HP:0006216	Single interphalangeal crease of fifth finger	-	OMIM:251255
5932	RBBP8	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:808
5932	RBBP8	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5932	RBBP8	HP:0001324	Muscle weakness	40/96	OMIM:131300
5932	RBBP8	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5932	RBBP8	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5932	RBBP8	HP:0000007	Autosomal recessive inheritance	-	OMIM:606744
5932	RBBP8	HP:0000007	Autosomal recessive inheritance	-	OMIM:251255
5932	RBBP8	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5932	RBBP8	HP:0002650	Scoliosis	HP:0040283	ORPHA:808
5932	RBBP8	HP:0002650	Scoliosis	12/14	OMIM:131300
5932	RBBP8	HP:0001321	Cerebellar hypoplasia	-	OMIM:606744
5932	RBBP8	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5932	RBBP8	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5932	RBBP8	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5932	RBBP8	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5932	RBBP8	HP:0000175	Cleft palate	2/7	OMIM:615777
5932	RBBP8	HP:0000171	Microglossia	1/1	OMIM:606744
5932	RBBP8	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:808
5932	RBBP8	HP:0004692	4-5 toe syndactyly	-	OMIM:251255
5932	RBBP8	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:808
5932	RBBP8	HP:0003388	Easy fatigability	36/76	OMIM:131300
5932	RBBP8	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5932	RBBP8	HP:0002135	Basal ganglia calcification	1/1	OMIM:606744
5932	RBBP8	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:808
5932	RBBP8	HP:0003577	Congenital onset	1/1	OMIM:606744
5932	RBBP8	HP:0003577	Congenital onset	7/7	OMIM:251255
5932	RBBP8	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:808
5932	RBBP8	HP:0003510	Severe short stature	7/7	OMIM:615777
5932	RBBP8	HP:0002315	Headache	-	OMIM:131300
5932	RBBP8	HP:0004976	Knee dislocation	6/7	OMIM:615777
5932	RBBP8	HP:0009804	Tooth agenesis	HP:0040282	ORPHA:808
5932	RBBP8	HP:0009803	Short phalanx of finger	-	OMIM:615777
5932	RBBP8	HP:0009763	Limb pain	63/92	OMIM:131300
5932	RBBP8	HP:0003621	Juvenile onset	-	OMIM:131300
5932	RBBP8	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5932	RBBP8	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:606744
5932	RBBP8	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:808
5932	RBBP8	HP:0004220	Short middle phalanx of the 5th finger	-	OMIM:251255
5932	RBBP8	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5932	RBBP8	HP:6001056	Out-toeing	-	OMIM:131300
5932	RBBP8	HP:0000651	Diplopia	-	OMIM:131300
5932	RBBP8	HP:0001956	Truncal obesity	2/7	OMIM:615777
5932	RBBP8	HP:0001903	Anemia	HP:0040283	OMIM:131300
5932	RBBP8	HP:0010049	Short metacarpal	-	OMIM:615777
5932	RBBP8	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:808
5932	RBBP8	HP:0011342	Mild global developmental delay	-	OMIM:606744
5932	RBBP8	HP:0011342	Mild global developmental delay	HP:0040281	ORPHA:808
5932	RBBP8	HP:0000678	Dental crowding	-	OMIM:615777
5932	RBBP8	HP:0000691	Microdontia	1/1	OMIM:606744
5932	RBBP8	HP:0000670	Carious teeth	-	OMIM:131300
5932	RBBP8	HP:0011304	Broad thumb	2/7	OMIM:615777
5932	RBBP8	HP:0000668	Hypodontia	-	OMIM:615777
5932	RBBP8	HP:0000664	Synophrys	-	OMIM:615777
5932	RBBP8	HP:0004322	Short stature	1/1	OMIM:606744
5932	RBBP8	HP:0004322	Short stature	HP:0040281	ORPHA:808
5932	RBBP8	HP:0004326	Cachexia	HP:0040281	ORPHA:808
5932	RBBP8	HP:0004396	Poor appetite	-	OMIM:131300
5932	RBBP8	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5932	RBBP8	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5932	RBBP8	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5932	RBBP8	HP:0003026	Short long bone	7/7	OMIM:615777
5932	RBBP8	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5932	RBBP8	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5932	RBBP8	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5932	RBBP8	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5932	RBBP8	HP:0000750	Delayed speech and language development	-	OMIM:615777
5932	RBBP8	HP:0000718	Aggressive behavior	-	OMIM:251255
5932	RBBP8	HP:0011461	Fetal onset	7/7	OMIM:615777
5932	RBBP8	HP:0011451	Primary microcephaly	1/1	OMIM:606744
5932	RBBP8	HP:0011451	Primary microcephaly	7/7	OMIM:251255
5932	RBBP8	HP:0000774	Narrow chest	2/7	OMIM:615777
5932	RBBP8	HP:0005780	Absent fourth finger distal interphalangeal crease	-	OMIM:251255
5932	RBBP8	HP:0000926	Platyspondyly	1/7	OMIM:615777
5932	RBBP8	HP:0003180	Flat acetabular roof	-	OMIM:615777
5932	RBBP8	HP:0004482	Relative macrocephaly	-	OMIM:615777
5932	RBBP8	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5932	RBBP8	HP:0000823	Delayed puberty	-	OMIM:131300
5932	RBBP8	HP:0000894	Short clavicles	-	OMIM:615777
5932	RBBP8	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5932	RBBP8	HP:0100259	Postaxial polydactyly	-	OMIM:251255
5932	RBBP8	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5932	RBBP8	HP:0000286	Epicanthus	1/7	OMIM:615777
5932	RBBP8	HP:0000280	Coarse facial features	2/7	OMIM:615777
5932	RBBP8	HP:0000278	Retrognathia	-	OMIM:251255
5932	RBBP8	HP:0000275	Narrow face	HP:0040281	ORPHA:808
5932	RBBP8	HP:0002827	Hip dislocation	3/7	OMIM:615777
5932	RBBP8	HP:0000252	Microcephaly	-	OMIM:606744
5932	RBBP8	HP:0000252	Microcephaly	HP:0040281	ORPHA:808
5932	RBBP8	HP:0000252	Microcephaly	-	OMIM:615777
5932	RBBP8	HP:0002857	Genu valgum	-	OMIM:131300
5932	RBBP8	HP:0001533	Slender build	-	OMIM:131300
5932	RBBP8	HP:0001518	Small for gestational age	1/1	OMIM:606744
5932	RBBP8	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:808
5932	RBBP8	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5932	RBBP8	HP:0001510	Growth delay	11/11	OMIM:606744
5932	RBBP8	HP:0007807	Optic nerve compression	-	OMIM:131300
5932	RBBP8	HP:0000387	Absent earlobe	HP:0040282	ORPHA:808
5932	RBBP8	HP:0012368	Flat face	7/7	OMIM:615777
5932	RBBP8	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5932	RBBP8	HP:0002943	Thoracic scoliosis	-	OMIM:251255
5932	RBBP8	HP:0000363	Abnormal earlobe morphology	HP:0040282	ORPHA:808
5932	RBBP8	HP:0000365	Hearing impairment	10/67	OMIM:131300
5932	RBBP8	HP:0000341	Narrow forehead	-	OMIM:606744
5932	RBBP8	HP:0000340	Sloping forehead	7/7	OMIM:251255
5932	RBBP8	HP:0000343	Long philtrum	1/7	OMIM:615777
5932	RBBP8	HP:0011001	Increased bone mineral density	-	OMIM:131300
5932	RBBP8	HP:0000347	Micrognathia	1/1	OMIM:606744
5932	RBBP8	HP:0000347	Micrognathia	HP:0040281	ORPHA:808
5932	RBBP8	HP:0000311	Round face	2/7	OMIM:615777
5932	RBBP8	HP:0030148	Heart murmur	-	OMIM:606744
5932	RBBP8	HP:0001620	Abnormally high-pitched voice	4/4	OMIM:606744
5932	RBBP8	HP:0002970	Genu varum	-	OMIM:615777
5932	RBBP8	HP:0000303	Mandibular prognathia	-	OMIM:131300
5932	RBBP8	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5932	RBBP8	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:808
5932	RBBP8	HP:0000470	Short neck	1/7	OMIM:615777
5932	RBBP8	HP:0001798	Anonychia	7/7	OMIM:251255
5932	RBBP8	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5932	RBBP8	HP:0001763	Pes planus	1/7	OMIM:615777
5932	RBBP8	HP:0000448	Prominent nose	-	OMIM:606744
5932	RBBP8	HP:0000448	Prominent nose	-	OMIM:251255
5932	RBBP8	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:808
5932	RBBP8	HP:0001840	Metatarsus adductus	-	OMIM:615777
5932	RBBP8	HP:0001852	Sandal gap	HP:0040281	ORPHA:808
5932	RBBP8	HP:0000520	Proptosis	2/4	OMIM:131300
5932	RBBP8	HP:0000520	Proptosis	7/7	OMIM:615777
5932	RBBP8	HP:0001822	Hallux valgus	-	OMIM:251255
5932	RBBP8	HP:0000501	Glaucoma	HP:0040282	ORPHA:808
5932	RBBP8	HP:0000592	Blue sclerae	2/7	OMIM:615777
5932	RBBP8	HP:0000568	Microphthalmia	1/1	OMIM:606744
5932	RBBP8	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5932	RBBP8	HP:0012514	Lower limb pain	4/4	OMIM:131300
5934	RBL2	HP:0001272	Cerebellar atrophy	1/2	OMIM:619690
5934	RBL2	HP:0025336	Delayed ability to sit	2/2	OMIM:619690
5934	RBL2	HP:0033725	Thin corpus callosum	1/2	OMIM:619690
5934	RBL2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619690
5934	RBL2	HP:0001319	Neonatal hypotonia	2/2	OMIM:619690
5934	RBL2	HP:0002059	Cerebral atrophy	1/2	OMIM:619690
5934	RBL2	HP:0033128	Delayed ability to crawl	2/2	OMIM:619690
5934	RBL2	HP:0100716	Self-injurious behavior	1/2	OMIM:619690
5934	RBL2	HP:0003623	Neonatal onset	2/2	OMIM:619690
5934	RBL2	HP:0000648	Optic atrophy	1/2	OMIM:619690
5934	RBL2	HP:0000629	Periorbital fullness	2/2	OMIM:619690
5934	RBL2	HP:0011344	Severe global developmental delay	2/2	OMIM:619690
5934	RBL2	HP:0000666	Horizontal nystagmus	1/2	OMIM:619690
5934	RBL2	HP:0004330	Increased skull ossification	2/2	OMIM:619690
5934	RBL2	HP:0031936	Delayed ability to walk	2/2	OMIM:619690
5934	RBL2	HP:0000733	Motor stereotypy	2/2	OMIM:619690
5934	RBL2	HP:0045074	Thin eyebrow	2/2	OMIM:619690
5934	RBL2	HP:0000294	Low anterior hairline	2/2	OMIM:619690
5934	RBL2	HP:0032794	Myoclonic seizure	1/2	OMIM:619690
5934	RBL2	HP:0000316	Hypertelorism	1/2	OMIM:619690
5934	RBL2	HP:0000311	Round face	2/2	OMIM:619690
5934	RBL2	HP:0007979	Gaze-evoked horizontal nystagmus	1/2	OMIM:619690
5934	RBL2	HP:0000486	Strabismus	1/2	OMIM:619690
5934	RBL2	HP:0012471	Thick vermilion border	2/2	OMIM:619690
5934	RBL2	HP:0000431	Wide nasal bridge	2/2	OMIM:619690
5940	RBMY1A1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:1646
5940	RBMY1A1	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:1646
5940	RBMY1A1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1646
5940	RBMY1A1	HP:0000027	Azoospermia	-	OMIM:415000
5940	RBMY1A1	HP:0001450	Y-linked inheritance	-	OMIM:415000
5940	RBMY1A1	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:1646
5940	RBMY1A1	HP:0011462	Young adult onset	-	OMIM:415000
5940	RBMY1A1	HP:0000798	Oligozoospermia	HP:0040282	ORPHA:1646
5940	RBMY1A1	HP:0003251	Male infertility	HP:0040281	ORPHA:1646
5940	RBMY1A1	HP:0003251	Male infertility	-	OMIM:415000
5949	RBP3	HP:0001133	Constriction of peripheral visual field	2/2	OMIM:615233
5949	RBP3	HP:0001133	Constriction of peripheral visual field	-	OMIM:268000
5949	RBP3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5949	RBP3	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
5949	RBP3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615233
5949	RBP3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5949	RBP3	HP:0000007	Autosomal recessive inheritance	-	OMIM:268000
5949	RBP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5949	RBP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:268000
5949	RBP3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5949	RBP3	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
5949	RBP3	HP:0007663	Reduced visual acuity	2/2	OMIM:615233
5949	RBP3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5949	RBP3	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
5949	RBP3	HP:0001419	X-linked recessive inheritance	-	OMIM:268000
5949	RBP3	HP:0003581	Adult onset	4/4	OMIM:615233
5949	RBP3	HP:0003621	Juvenile onset	8/19	OMIM:180100
5949	RBP3	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
5949	RBP3	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
5949	RBP3	HP:0000618	Blindness	HP:0040281	ORPHA:791
5949	RBP3	HP:0000613	Photophobia	HP:0040281	ORPHA:791
5949	RBP3	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
5949	RBP3	HP:0000603	Central scotoma	2/2	OMIM:615233
5949	RBP3	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
5949	RBP3	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
5949	RBP3	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
5949	RBP3	HP:0000662	Nyctalopia	1/2	OMIM:615233
5949	RBP3	HP:0000662	Nyctalopia	-	OMIM:268000
5949	RBP3	HP:0000662	Nyctalopia	26/28	OMIM:180100
5949	RBP3	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
5949	RBP3	HP:0011463	Childhood onset	3/19	OMIM:180100
5949	RBP3	HP:0011462	Young adult onset	8/19	OMIM:180100
5949	RBP3	HP:0030786	Photopsia	HP:0040283	ORPHA:791
5949	RBP3	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
5949	RBP3	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
5949	RBP3	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
5949	RBP3	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
5949	RBP3	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
5949	RBP3	HP:0007787	Posterior subcapsular cataract	2/2	OMIM:615233
5949	RBP3	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
5949	RBP3	HP:0007737	Bone spicule pigmentation of the retina	2/2	OMIM:615233
5949	RBP3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5949	RBP3	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
5949	RBP3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5949	RBP3	HP:0031605	Abnormality of fundus pigmentation	-	OMIM:268000
5949	RBP3	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
5949	RBP3	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
5949	RBP3	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
5949	RBP3	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
5949	RBP3	HP:0000510	Rod-cone dystrophy	-	OMIM:615233
5949	RBP3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5949	RBP3	HP:0000510	Rod-cone dystrophy	20/20	OMIM:268000
5949	RBP3	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
5949	RBP3	HP:0000505	Visual impairment	2/2	OMIM:615233
5949	RBP3	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
5949	RBP3	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
5949	RBP3	HP:0000575	Scotoma	5/18	OMIM:180100
5949	RBP3	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
5949	RBP3	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
5949	RBP3	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
5949	RBP3	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
5949	RBP3	HP:0000543	Optic disc pallor	1/2	OMIM:615233
5949	RBP3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5949	RBP3	HP:0000545	Myopia	-	OMIM:180100
5950	RBP4	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5950	RBP4	HP:0031032	Decreased retinol-binding protein level	2/2	OMIM:615147
5950	RBP4	HP:0007502	Follicular hyperkeratosis	2/2	OMIM:615147
5950	RBP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615147
5950	RBP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5950	RBP4	HP:0000006	Autosomal dominant inheritance	-	OMIM:616428
5950	RBP4	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5950	RBP4	HP:0025492	Microcoria	1/15	OMIM:616428
5950	RBP4	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5950	RBP4	HP:0007663	Reduced visual acuity	2/2	OMIM:615147
5950	RBP4	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5950	RBP4	HP:0034567	Optic pit	1/15	OMIM:616428
5950	RBP4	HP:0200070	Peripheral retinal atrophy	-	OMIM:615147
5950	RBP4	HP:0003621	Juvenile onset	8/19	OMIM:180100
5950	RBP4	HP:0000612	Iris coloboma	2/2	OMIM:615147
5950	RBP4	HP:0000612	Iris coloboma	8/15	OMIM:616428
5950	RBP4	HP:0000662	Nyctalopia	2/2	OMIM:615147
5950	RBP4	HP:0000662	Nyctalopia	26/28	OMIM:180100
5950	RBP4	HP:0011463	Childhood onset	3/19	OMIM:180100
5950	RBP4	HP:0011463	Childhood onset	2/2	OMIM:615147
5950	RBP4	HP:0011462	Young adult onset	8/19	OMIM:180100
5950	RBP4	HP:0030825	Absent foveal reflex	2/2	OMIM:615147
5950	RBP4	HP:0040137	Comedonal acne	2/2	OMIM:615147
5950	RBP4	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5950	RBP4	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5950	RBP4	HP:0001643	Patent ductus arteriosus	-	OMIM:615147
5950	RBP4	HP:0000482	Microcornea	HP:0040283	OMIM:615147
5950	RBP4	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5950	RBP4	HP:0000528	Anophthalmia	4/15	OMIM:616428
5950	RBP4	HP:0000505	Visual impairment	-	OMIM:615147
5950	RBP4	HP:0000575	Scotoma	5/18	OMIM:180100
5950	RBP4	HP:0000556	Retinal dystrophy	-	OMIM:615147
5950	RBP4	HP:0000568	Microphthalmia	8/15	OMIM:616428
5950	RBP4	HP:0000567	Chorioretinal coloboma	2/15	OMIM:616428
5950	RBP4	HP:0000552	Tritanomaly	2/2	OMIM:615147
5950	RBP4	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5950	RBP4	HP:0000545	Myopia	-	OMIM:180100
5956	OPN1LW	HP:0001131	Corneal dystrophy	HP:0040283	ORPHA:16
5956	OPN1LW	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
5956	OPN1LW	HP:0012043	Pendular nystagmus	-	OMIM:303700
5956	OPN1LW	HP:0007663	Reduced visual acuity	-	OMIM:303700
5956	OPN1LW	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
5956	OPN1LW	HP:0001419	X-linked recessive inheritance	-	OMIM:303700
5956	OPN1LW	HP:0001419	X-linked recessive inheritance	-	OMIM:303900
5956	OPN1LW	HP:0200018	Protanomaly	-	OMIM:303900
5956	OPN1LW	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
5956	OPN1LW	HP:0000639	Nystagmus	HP:0040282	ORPHA:16
5956	OPN1LW	HP:0000639	Nystagmus	HP:0040282	OMIM:303700
5956	OPN1LW	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
5956	OPN1LW	HP:0000613	Photophobia	-	OMIM:303700
5956	OPN1LW	HP:0000613	Photophobia	HP:0040283	ORPHA:16
5956	OPN1LW	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
5956	OPN1LW	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
5956	OPN1LW	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
5956	OPN1LW	HP:0030619	Reduced OCT-measured foveal thickness	HP:0040282	ORPHA:16
5956	OPN1LW	HP:0008002	Abnormality of macular pigmentation	HP:0040283	OMIM:303700
5956	OPN1LW	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
5956	OPN1LW	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:16
5956	OPN1LW	HP:0025549	Eccentric visual fixation	HP:0040282	ORPHA:16
5956	OPN1LW	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
5956	OPN1LW	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
5956	OPN1LW	HP:0007939	Blue cone monochromacy	HP:0040281	ORPHA:16
5956	OPN1LW	HP:0007939	Blue cone monochromacy	-	OMIM:303700
5956	OPN1LW	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
5956	OPN1LW	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:16
5956	OPN1LW	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
5956	OPN1LW	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
5956	OPN1LW	HP:0000505	Visual impairment	HP:0040283	ORPHA:16
5956	OPN1LW	HP:0000505	Visual impairment	-	OMIM:303700
5956	OPN1LW	HP:0000540	Hypermetropia	HP:0040283	ORPHA:16
5956	OPN1LW	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
5956	OPN1LW	HP:0000551	Color vision defect	HP:0040282	ORPHA:16
5956	OPN1LW	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
5956	OPN1LW	HP:0000545	Myopia	HP:0040282	ORPHA:16
5956	OPN1LW	HP:0000545	Myopia	-	OMIM:303700
5959	RDH5	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5959	RDH5	HP:0001142	Lenticonus	HP:0040283	ORPHA:52427
5959	RDH5	HP:0001105	Retinal atrophy	HP:0040283	ORPHA:52427
5959	RDH5	HP:0007401	Macular atrophy	HP:0040283	ORPHA:52427
5959	RDH5	HP:0012045	Retinal flecks	-	OMIM:136880
5959	RDH5	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5959	RDH5	HP:0000007	Autosomal recessive inheritance	-	OMIM:136880
5959	RDH5	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5959	RDH5	HP:0000006	Autosomal dominant inheritance	-	OMIM:136880
5959	RDH5	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5959	RDH5	HP:0007675	Progressive night blindness	HP:0040282	ORPHA:52427
5959	RDH5	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5959	RDH5	HP:0008323	Abnormal light- and dark-adapted electroretinogram	HP:0040281	ORPHA:52427
5959	RDH5	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:52427
5959	RDH5	HP:0003621	Juvenile onset	8/19	OMIM:180100
5959	RDH5	HP:0030506	Yellow/white lesions of the retina	HP:0040281	ORPHA:52427
5959	RDH5	HP:0000613	Photophobia	HP:0040282	ORPHA:52427
5959	RDH5	HP:0000603	Central scotoma	HP:0040282	ORPHA:52427
5959	RDH5	HP:0000662	Nyctalopia	26/28	OMIM:180100
5959	RDH5	HP:0000662	Nyctalopia	HP:0040281	ORPHA:52427
5959	RDH5	HP:0000662	Nyctalopia	-	OMIM:136880
5959	RDH5	HP:0030642	Fundus albipunctatus	-	OMIM:136880
5959	RDH5	HP:0011463	Childhood onset	3/19	OMIM:180100
5959	RDH5	HP:0011462	Young adult onset	8/19	OMIM:180100
5959	RDH5	HP:0011505	Cystoid macular edema	HP:0040283	ORPHA:52427
5959	RDH5	HP:0030825	Absent foveal reflex	HP:0040281	ORPHA:52427
5959	RDH5	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5959	RDH5	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5959	RDH5	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:52427
5959	RDH5	HP:0007814	Retinal pigment epithelial mottling	HP:0040282	ORPHA:52427
5959	RDH5	HP:0031605	Abnormality of fundus pigmentation	HP:0040283	ORPHA:52427
5959	RDH5	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:52427
5959	RDH5	HP:0007987	Progressive visual field defects	HP:0040282	ORPHA:52427
5959	RDH5	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5959	RDH5	HP:0000529	Progressive visual loss	HP:0040281	ORPHA:52427
5959	RDH5	HP:0000580	Pigmentary retinopathy	HP:0040284	ORPHA:52427
5959	RDH5	HP:0000575	Scotoma	5/18	OMIM:180100
5959	RDH5	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5959	RDH5	HP:0000545	Myopia	-	OMIM:180100
5961	PRPH2	HP:0025148	Dark choroid	2/6	OMIM:169150
5961	PRPH2	HP:0001133	Constriction of peripheral visual field	-	OMIM:608133
5961	PRPH2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5961	PRPH2	HP:0001142	Lenticonus	HP:0040283	ORPHA:52427
5961	PRPH2	HP:0001139	Choroideremia	HP:0040282	ORPHA:99000
5961	PRPH2	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
5961	PRPH2	HP:0001105	Retinal atrophy	HP:0040283	ORPHA:52427
5961	PRPH2	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
5961	PRPH2	HP:0001123	Visual field defect	HP:0040282	ORPHA:99000
5961	PRPH2	HP:0007401	Macular atrophy	HP:0040283	ORPHA:52427
5961	PRPH2	HP:0007401	Macular atrophy	-	OMIM:608161
5961	PRPH2	HP:0007401	Macular atrophy	HP:0040282	ORPHA:75377
5961	PRPH2	HP:0012045	Retinal flecks	-	OMIM:136880
5961	PRPH2	HP:0031152	Full-thickness macular hole	HP:0040281	ORPHA:75377
5961	PRPH2	HP:0000007	Autosomal recessive inheritance	-	OMIM:608133
5961	PRPH2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5961	PRPH2	HP:0000007	Autosomal recessive inheritance	-	OMIM:136880
5961	PRPH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:608133
5961	PRPH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5961	PRPH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:136880
5961	PRPH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613105
5961	PRPH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:169150
5961	PRPH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:608161
5961	PRPH2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5961	PRPH2	HP:0007675	Progressive night blindness	HP:0040282	ORPHA:52427
5961	PRPH2	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
5961	PRPH2	HP:0007677	Vitelliform-like macular lesions	1/1	OMIM:608161
5961	PRPH2	HP:0007677	Vitelliform-like macular lesions	HP:0040281	ORPHA:99000
5961	PRPH2	HP:0007663	Reduced visual acuity	HP:0040280	ORPHA:827
5961	PRPH2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5961	PRPH2	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
5961	PRPH2	HP:0007663	Reduced visual acuity	3/6	OMIM:169150
5961	PRPH2	HP:0007663	Reduced visual acuity	1/1	OMIM:608161
5961	PRPH2	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:75377
5961	PRPH2	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
5961	PRPH2	HP:0007641	Dyschromatopsia	HP:0040284	ORPHA:75377
5961	PRPH2	HP:0008323	Abnormal light- and dark-adapted electroretinogram	HP:0040281	ORPHA:52427
5961	PRPH2	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:52427
5961	PRPH2	HP:0003621	Juvenile onset	8/19	OMIM:180100
5961	PRPH2	HP:0030500	Yellow/white lesions of the macula	HP:0040282	ORPHA:827
5961	PRPH2	HP:0030506	Yellow/white lesions of the retina	HP:0040281	ORPHA:52427
5961	PRPH2	HP:0030506	Yellow/white lesions of the retina	5/6	OMIM:169150
5961	PRPH2	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
5961	PRPH2	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
5961	PRPH2	HP:0000649	Abnormality of visual evoked potentials	HP:0040281	ORPHA:827
5961	PRPH2	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
5961	PRPH2	HP:0000618	Blindness	HP:0040281	ORPHA:791
5961	PRPH2	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
5961	PRPH2	HP:0000613	Photophobia	HP:0040282	ORPHA:52427
5961	PRPH2	HP:0000613	Photophobia	HP:0040281	ORPHA:791
5961	PRPH2	HP:0000613	Photophobia	-	OMIM:613105
5961	PRPH2	HP:0000613	Photophobia	HP:0040283	OMIM:169150
5961	PRPH2	HP:0000613	Photophobia	-	OMIM:608161
5961	PRPH2	HP:0000610	Abnormal choroid morphology	HP:0040281	ORPHA:827
5961	PRPH2	HP:0000608	Macular degeneration	HP:0040281	ORPHA:827
5961	PRPH2	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
5961	PRPH2	HP:0000603	Central scotoma	HP:0040281	ORPHA:827
5961	PRPH2	HP:0000603	Central scotoma	HP:0040282	ORPHA:52427
5961	PRPH2	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
5961	PRPH2	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
5961	PRPH2	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
5961	PRPH2	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
5961	PRPH2	HP:0030491	Choriocapillaris atrophy	HP:0040283	ORPHA:75377
5961	PRPH2	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
5961	PRPH2	HP:0000662	Nyctalopia	HP:0040281	ORPHA:827
5961	PRPH2	HP:0000662	Nyctalopia	-	OMIM:608133
5961	PRPH2	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
5961	PRPH2	HP:0000662	Nyctalopia	26/28	OMIM:180100
5961	PRPH2	HP:0000662	Nyctalopia	HP:0040281	ORPHA:52427
5961	PRPH2	HP:0000662	Nyctalopia	HP:0040283	OMIM:169150
5961	PRPH2	HP:0000662	Nyctalopia	HP:0040284	ORPHA:75377
5961	PRPH2	HP:0000662	Nyctalopia	-	OMIM:136880
5961	PRPH2	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
5961	PRPH2	HP:0030615	Foveal photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:75377
5961	PRPH2	HP:0030629	Perifoveal ring of hyperautofluorescence	HP:0040283	ORPHA:75377
5961	PRPH2	HP:0030631	Hyperautofluorescent macular lesion	HP:0040281	ORPHA:75377
5961	PRPH2	HP:0030642	Fundus albipunctatus	-	OMIM:136880
5961	PRPH2	HP:0011463	Childhood onset	3/19	OMIM:180100
5961	PRPH2	HP:0011462	Young adult onset	8/19	OMIM:180100
5961	PRPH2	HP:0030786	Photopsia	HP:0040282	ORPHA:827
5961	PRPH2	HP:0030786	Photopsia	HP:0040283	ORPHA:791
5961	PRPH2	HP:0011510	Drusen	-	OMIM:608161
5961	PRPH2	HP:0011510	Drusen	HP:0040283	ORPHA:75377
5961	PRPH2	HP:0011506	Choroidal neovascularization	HP:0040284	OMIM:169150
5961	PRPH2	HP:0011506	Choroidal neovascularization	HP:0040284	OMIM:608161
5961	PRPH2	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
5961	PRPH2	HP:0011505	Cystoid macular edema	HP:0040283	ORPHA:52427
5961	PRPH2	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
5961	PRPH2	HP:0030825	Absent foveal reflex	HP:0040281	ORPHA:52427
5961	PRPH2	HP:0030825	Absent foveal reflex	1/6	OMIM:169150
5961	PRPH2	HP:0008002	Abnormality of macular pigmentation	HP:0040281	ORPHA:827
5961	PRPH2	HP:0008059	Aplasia/Hypoplasia of the macula	HP:0040282	ORPHA:827
5961	PRPH2	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
5961	PRPH2	HP:0007722	Retinal pigment epithelial atrophy	HP:0040281	ORPHA:827
5961	PRPH2	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
5961	PRPH2	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
5961	PRPH2	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:827
5961	PRPH2	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
5961	PRPH2	HP:0007754	Macular dystrophy	-	OMIM:169150
5961	PRPH2	HP:0007754	Macular dystrophy	-	OMIM:608161
5961	PRPH2	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
5961	PRPH2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5961	PRPH2	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
5961	PRPH2	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:99000
5961	PRPH2	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
5961	PRPH2	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:608133
5961	PRPH2	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
5961	PRPH2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5961	PRPH2	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:52427
5961	PRPH2	HP:0007830	Adult-onset night blindness	-	OMIM:608133
5961	PRPH2	HP:0007814	Retinal pigment epithelial mottling	HP:0040281	ORPHA:827
5961	PRPH2	HP:0007814	Retinal pigment epithelial mottling	HP:0040282	ORPHA:52427
5961	PRPH2	HP:0007814	Retinal pigment epithelial mottling	HP:0040283	ORPHA:75377
5961	PRPH2	HP:0007894	Hypopigmentation of the fundus	HP:0040282	ORPHA:75377
5961	PRPH2	HP:0007899	Retinal nonattachment	HP:0040283	ORPHA:99000
5961	PRPH2	HP:0007963	Pattern dystrophy of the retina	6/6	OMIM:169150
5961	PRPH2	HP:0031605	Abnormality of fundus pigmentation	HP:0040283	ORPHA:52427
5961	PRPH2	HP:0007924	Slow decrease in visual acuity	HP:0040282	ORPHA:75377
5961	PRPH2	HP:0007913	Reticular retinal dystrophy	-	OMIM:169150
5961	PRPH2	HP:0030329	Retinal thinning	HP:0040281	ORPHA:827
5961	PRPH2	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
5961	PRPH2	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:52427
5961	PRPH2	HP:0007980	Absent retinal pigment epithelium	HP:0040283	ORPHA:75377
5961	PRPH2	HP:0007987	Progressive visual field defects	HP:0040282	ORPHA:52427
5961	PRPH2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
5961	PRPH2	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
5961	PRPH2	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:99000
5961	PRPH2	HP:0000493	Abnormal foveal morphology	HP:0040281	ORPHA:827
5961	PRPH2	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
5961	PRPH2	HP:0025710	Late young adult onset	1/1	OMIM:608161
5961	PRPH2	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
5961	PRPH2	HP:0012508	Metamorphopsia	1/1	OMIM:608161
5961	PRPH2	HP:0012508	Metamorphopsia	HP:0040283	OMIM:169150
5961	PRPH2	HP:0000510	Rod-cone dystrophy	-	OMIM:608133
5961	PRPH2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5961	PRPH2	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
5961	PRPH2	HP:0000512	Abnormal electroretinogram	-	OMIM:608133
5961	PRPH2	HP:0000529	Progressive visual loss	HP:0040281	ORPHA:52427
5961	PRPH2	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
5961	PRPH2	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
5961	PRPH2	HP:0000505	Visual impairment	HP:0040281	ORPHA:99000
5961	PRPH2	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
5961	PRPH2	HP:0000505	Visual impairment	1/1	OMIM:608161
5961	PRPH2	HP:0000505	Visual impairment	HP:0040282	ORPHA:75377
5961	PRPH2	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:99000
5961	PRPH2	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
5961	PRPH2	HP:0000580	Pigmentary retinopathy	-	OMIM:608133
5961	PRPH2	HP:0000580	Pigmentary retinopathy	HP:0040284	ORPHA:52427
5961	PRPH2	HP:0000575	Scotoma	5/18	OMIM:180100
5961	PRPH2	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
5961	PRPH2	HP:0000572	Visual loss	HP:0040282	ORPHA:75377
5961	PRPH2	HP:0000533	Chorioretinal atrophy	HP:0040283	OMIM:608133
5961	PRPH2	HP:0000533	Chorioretinal atrophy	-	OMIM:613105
5961	PRPH2	HP:0000533	Chorioretinal atrophy	HP:0040283	ORPHA:75377
5961	PRPH2	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
5961	PRPH2	HP:0000551	Color vision defect	HP:0040281	ORPHA:827
5961	PRPH2	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
5961	PRPH2	HP:0000551	Color vision defect	0/1	OMIM:608161
5961	PRPH2	HP:0000551	Color vision defect	HP:0040282	ORPHA:99000
5961	PRPH2	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
5961	PRPH2	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
5961	PRPH2	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
5961	PRPH2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5961	PRPH2	HP:0000545	Myopia	-	OMIM:180100
5962	RDX	HP:0000007	Autosomal recessive inheritance	-	OMIM:611022
5962	RDX	HP:0003593	Infantile onset	-	OMIM:611022
5962	RDX	HP:0011476	Profound sensorineural hearing impairment	-	OMIM:611022
5965	RECQL	HP:0001166	Arachnodactyly	1/3	OMIM:620370
5965	RECQL	HP:0009907	Attached earlobe	1/3	OMIM:620370
5965	RECQL	HP:0008551	Microtia	1/3	OMIM:620370
5965	RECQL	HP:0033505	Livedo reticularis	1/3	OMIM:620370
5965	RECQL	HP:0025337	Red eye	2/3	OMIM:620370
5965	RECQL	HP:0001382	Joint hypermobility	1/3	OMIM:620370
5965	RECQL	HP:0000007	Autosomal recessive inheritance	-	OMIM:620370
5965	RECQL	HP:0007646	Absent lower eyelashes	1/3	OMIM:620370
5965	RECQL	HP:0032524	Long thumb	3/3	OMIM:620370
5965	RECQL	HP:0002719	Recurrent infections	1/3	OMIM:620370
5965	RECQL	HP:0009623	Proximal placement of thumb	1/3	OMIM:620370
5965	RECQL	HP:0003593	Infantile onset	3/3	OMIM:620370
5965	RECQL	HP:0008407	Hyperconvex thumb nails	1/3	OMIM:620370
5965	RECQL	HP:0001007	Hirsutism	2/6	OMIM:620370
5965	RECQL	HP:0001097	Keratoconjunctivitis sicca	2/3	OMIM:620370
5965	RECQL	HP:0032152	Keratosis pilaris	1/3	OMIM:620370
5965	RECQL	HP:0010759	Prominence of the premaxilla	3/3	OMIM:620370
5965	RECQL	HP:0001903	Anemia	1/3	OMIM:620370
5965	RECQL	HP:0000696	Delayed eruption of permanent teeth	2/3	OMIM:620370
5965	RECQL	HP:0000678	Dental crowding	1/3	OMIM:620370
5965	RECQL	HP:0004322	Short stature	1/3	OMIM:620370
5965	RECQL	HP:0003202	Skeletal muscle atrophy	1/3	OMIM:620370
5965	RECQL	HP:0000992	Cutaneous photosensitivity	3/3	OMIM:620370
5965	RECQL	HP:0000958	Dry skin	3/3	OMIM:620370
5965	RECQL	HP:0000963	Thin skin	1/3	OMIM:620370
5965	RECQL	HP:0040189	Scaling skin	1/3	OMIM:620370
5965	RECQL	HP:0000252	Microcephaly	1/3	OMIM:620370
5965	RECQL	HP:0000233	Thin vermilion border	1/3	OMIM:620370
5965	RECQL	HP:0001510	Growth delay	2/3	OMIM:620370
5965	RECQL	HP:0000319	Smooth philtrum	3/3	OMIM:620370
5965	RECQL	HP:0000311	Round face	1/3	OMIM:620370
5965	RECQL	HP:0005328	Progeroid facial appearance	3/3	OMIM:620370
5965	RECQL	HP:0000490	Deeply set eye	1/3	OMIM:620370
5965	RECQL	HP:0000463	Anteverted nares	2/3	OMIM:620370
5965	RECQL	HP:0000418	Narrow nasal ridge	3/3	OMIM:620370
5965	RECQL	HP:0000430	Underdeveloped nasal alae	1/3	OMIM:620370
5965	RECQL	HP:0000426	Prominent nasal bridge	1/3	OMIM:620370
5965	RECQL	HP:0001873	Thrombocytopenia	1/3	OMIM:620370
5966	REL	HP:0032247	Persistent CMV viremia	1/1	OMIM:619652
5966	REL	HP:0100827	Increased total lymphocyte count	1/1	OMIM:619652
5966	REL	HP:0410297	Partial absence of specific antibody response to tetanus vaccine	1/1	OMIM:619652
5966	REL	HP:0010976	Decreased total B cell count	1/1	OMIM:619652
5966	REL	HP:0000007	Autosomal recessive inheritance	-	OMIM:619652
5966	REL	HP:0410028	Recurrent oral herpes	1/1	OMIM:619652
5966	REL	HP:0002754	Osteomyelitis	1/1	OMIM:619652
5966	REL	HP:0002720	Decreased circulating IgA concentration	1/1	OMIM:619652
5966	REL	HP:0002028	Chronic diarrhea	1/1	OMIM:619652
5966	REL	HP:0030991	Sclerosing cholangitis	1/1	OMIM:619652
5966	REL	HP:0002090	Pneumonia	1/1	OMIM:619652
5966	REL	HP:0002240	Hepatomegaly	1/1	OMIM:619652
5966	REL	HP:0020087	BCGosis	1/1	OMIM:619652
5966	REL	HP:0100633	Esophagitis	1/1	OMIM:619652
5966	REL	HP:0001974	Increased total leukocyte count	1/1	OMIM:619652
5966	REL	HP:0001954	Recurrent fever	1/1	OMIM:619652
5966	REL	HP:0004315	Decreased circulating IgG concentration	1/1	OMIM:619652
5966	REL	HP:0011463	Childhood onset	2/2	OMIM:619652
5966	REL	HP:0031380	Abnormal B cell proliferation	1/1	OMIM:619652
5966	REL	HP:0030151	Cholangitis	1/1	OMIM:619652
5966	REL	HP:0001894	Thrombocytosis	1/1	OMIM:619652
5966	REL	HP:0030388	Decreased class-switched memory B cell proportion	1/1	OMIM:619652
5970	RELA	HP:0000006	Autosomal dominant inheritance	-	OMIM:618287
5970	RELA	HP:0000155	Oral ulcer	4/4	OMIM:618287
5970	RELA	HP:0032564	Ileitis	1/4	OMIM:618287
5970	RELA	HP:0032565	Vaginal mucosal ulceration	1/3	OMIM:618287
5970	RELA	HP:0002719	Recurrent infections	0/4	OMIM:618287
5971	RELB	HP:0000010	Recurrent urinary tract infections	1/3	OMIM:617585
5971	RELB	HP:0000007	Autosomal recessive inheritance	-	OMIM:617585
5971	RELB	HP:0002788	Recurrent upper respiratory tract infections	1/3	OMIM:617585
5971	RELB	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	3/3	OMIM:617585
5971	RELB	HP:0002099	Asthma	1/3	OMIM:617585
5971	RELB	HP:0011897	Increased total neutrophil count	3/3	OMIM:617585
5971	RELB	HP:0003593	Infantile onset	3/3	OMIM:617585
5971	RELB	HP:0034315	Chronic cough	3/3	OMIM:617585
5971	RELB	HP:0000988	Skin rash	1/3	OMIM:617585
5971	RELB	HP:0001508	Failure to thrive	1/3	OMIM:617585
5971	RELB	HP:0006532	Recurrent pneumonia	3/3	OMIM:617585
5971	RELB	HP:0000403	Recurrent otitis media	2/3	OMIM:617585
5972	REN	HP:0008660	Renotubular dysgenesis	-	OMIM:267430
5972	REN	HP:0000089	Renal hypoplasia	-	OMIM:613092
5972	REN	HP:0000097	Focal segmental glomerulosclerosis	-	OMIM:613092
5972	REN	HP:0000093	Proteinuria	-	OMIM:613092
5972	REN	HP:0000092	Renal tubular atrophy	-	OMIM:613092
5972	REN	HP:0000079	Abnormality of the urinary system	-	OMIM:267430
5972	REN	HP:0000007	Autosomal recessive inheritance	-	OMIM:267430
5972	REN	HP:0000006	Autosomal dominant inheritance	-	OMIM:613092
5972	REN	HP:0002615	Hypotension	-	OMIM:267430
5972	REN	HP:0002009	Potter facies	-	OMIM:267430
5972	REN	HP:0002089	Pulmonary hypoplasia	-	OMIM:267430
5972	REN	HP:0002093	Respiratory insufficiency	-	OMIM:267430
5972	REN	HP:0100519	Anuria	-	OMIM:267430
5972	REN	HP:0002149	Hyperuricemia	-	OMIM:613092
5972	REN	HP:0004719	Hyperechogenic kidneys	-	OMIM:613092
5972	REN	HP:0005576	Tubulointerstitial fibrosis	-	OMIM:613092
5972	REN	HP:0012622	Chronic kidney disease	-	OMIM:613092
5972	REN	HP:0001903	Anemia	-	OMIM:613092
5972	REN	HP:0004492	Widely patent fontanelles and sutures	-	OMIM:267430
5972	REN	HP:0000252	Microcephaly	-	OMIM:267430
5972	REN	HP:0001562	Oligohydramnios	-	OMIM:267430
5977	DPF2	HP:0001156	Brachydactyly	5/8	OMIM:618027
5977	DPF2	HP:0009928	Thick nasal alae	5/8	OMIM:618027
5977	DPF2	HP:0009928	Thick nasal alae	HP:0040282	ORPHA:1465
5977	DPF2	HP:0001195	Single umbilical artery	1/8	OMIM:618027
5977	DPF2	HP:0025162	Severe temper tantrums	2/8	OMIM:618027
5977	DPF2	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:1465
5977	DPF2	HP:0009879	Simplified gyral pattern	HP:0040283	ORPHA:1465
5977	DPF2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
5977	DPF2	HP:0001293	Cranial nerve compression	-	OMIM:131300
5977	DPF2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:1465
5977	DPF2	HP:0001270	Motor delay	5/8	OMIM:618027
5977	DPF2	HP:0001250	Seizure	HP:0040282	ORPHA:1465
5977	DPF2	HP:0001252	Hypotonia	4/7	OMIM:618027
5977	DPF2	HP:0001252	Hypotonia	2/7	OMIM:615777
5977	DPF2	HP:0001249	Intellectual disability	7/7	OMIM:618027
5977	DPF2	HP:0001249	Intellectual disability	5/7	OMIM:615777
5977	DPF2	HP:0001263	Global developmental delay	8/8	OMIM:618027
5977	DPF2	HP:0001263	Global developmental delay	-	OMIM:615777
5977	DPF2	HP:0002515	Waddling gait	54/102	OMIM:131300
5977	DPF2	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:1465
5977	DPF2	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1465
5977	DPF2	HP:0001382	Joint hypermobility	-	OMIM:615777
5977	DPF2	HP:0000047	Hypospadias	HP:0040283	ORPHA:1465
5977	DPF2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
5977	DPF2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1465
5977	DPF2	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:1465
5977	DPF2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
5977	DPF2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
5977	DPF2	HP:0001324	Muscle weakness	40/96	OMIM:131300
5977	DPF2	HP:0001344	Absent speech	HP:0040283	ORPHA:1465
5977	DPF2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
5977	DPF2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
5977	DPF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618027
5977	DPF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
5977	DPF2	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:1465
5977	DPF2	HP:0002650	Scoliosis	HP:0040282	ORPHA:1465
5977	DPF2	HP:0002650	Scoliosis	12/14	OMIM:131300
5977	DPF2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
5977	DPF2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
5977	DPF2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
5977	DPF2	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:1465
5977	DPF2	HP:0000179	Thick lower lip vermilion	4/8	OMIM:618027
5977	DPF2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
5977	DPF2	HP:0000175	Cleft palate	2/7	OMIM:615777
5977	DPF2	HP:0000154	Wide mouth	HP:0040281	ORPHA:1465
5977	DPF2	HP:0000154	Wide mouth	4/8	OMIM:618027
5977	DPF2	HP:0008947	Floppy infant	HP:0040282	ORPHA:1465
5977	DPF2	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:1465
5977	DPF2	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:1465
5977	DPF2	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:1465
5977	DPF2	HP:0002719	Recurrent infections	HP:0040282	ORPHA:1465
5977	DPF2	HP:0002714	Downturned corners of mouth	1/8	OMIM:618027
5977	DPF2	HP:0002019	Constipation	6/8	OMIM:618027
5977	DPF2	HP:0003388	Easy fatigability	36/76	OMIM:131300
5977	DPF2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
5977	DPF2	HP:0011937	Hypoplastic fifth toenail	HP:0040282	ORPHA:1465
5977	DPF2	HP:0011937	Hypoplastic fifth toenail	8/8	OMIM:618027
5977	DPF2	HP:0003593	Infantile onset	-	OMIM:618027
5977	DPF2	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:1465
5977	DPF2	HP:0002209	Sparse scalp hair	6/7	OMIM:618027
5977	DPF2	HP:0100790	Hernia	HP:0040283	ORPHA:1465
5977	DPF2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:1465
5977	DPF2	HP:0011968	Feeding difficulties	5/8	OMIM:618027
5977	DPF2	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:1465
5977	DPF2	HP:0003510	Severe short stature	7/7	OMIM:615777
5977	DPF2	HP:0007099	Chiari type I malformation	1/8	OMIM:618027
5977	DPF2	HP:0008398	Hypoplastic fifth fingernail	HP:0040282	ORPHA:1465
5977	DPF2	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:1465
5977	DPF2	HP:0001007	Hirsutism	HP:0040282	ORPHA:1465
5977	DPF2	HP:0002315	Headache	-	OMIM:131300
5977	DPF2	HP:0004976	Knee dislocation	6/7	OMIM:615777
5977	DPF2	HP:0009803	Short phalanx of finger	-	OMIM:615777
5977	DPF2	HP:0009763	Limb pain	63/92	OMIM:131300
5977	DPF2	HP:0003621	Juvenile onset	-	OMIM:131300
5977	DPF2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
5977	DPF2	HP:0004209	Clinodactyly of the 5th finger	3/8	OMIM:618027
5977	DPF2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
5977	DPF2	HP:6001056	Out-toeing	-	OMIM:131300
5977	DPF2	HP:0000651	Diplopia	-	OMIM:131300
5977	DPF2	HP:0001956	Truncal obesity	2/7	OMIM:615777
5977	DPF2	HP:0001903	Anemia	HP:0040283	OMIM:131300
5977	DPF2	HP:0010049	Short metacarpal	-	OMIM:615777
5977	DPF2	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:1465
5977	DPF2	HP:0000678	Dental crowding	-	OMIM:615777
5977	DPF2	HP:0000691	Microdontia	2/7	OMIM:618027
5977	DPF2	HP:0000670	Carious teeth	-	OMIM:131300
5977	DPF2	HP:0011304	Broad thumb	2/7	OMIM:615777
5977	DPF2	HP:0000668	Hypodontia	-	OMIM:615777
5977	DPF2	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:1465
5977	DPF2	HP:0000664	Synophrys	-	OMIM:615777
5977	DPF2	HP:0004322	Short stature	4/8	OMIM:618027
5977	DPF2	HP:0004396	Poor appetite	-	OMIM:131300
5977	DPF2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
5977	DPF2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
5977	DPF2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
5977	DPF2	HP:0003026	Short long bone	7/7	OMIM:615777
5977	DPF2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
5977	DPF2	HP:0031936	Delayed ability to walk	6/8	OMIM:618027
5977	DPF2	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1465
5977	DPF2	HP:0000752	Hyperactivity	1/8	OMIM:618027
5977	DPF2	HP:0000767	Pectus excavatum	2/8	OMIM:618027
5977	DPF2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
5977	DPF2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
5977	DPF2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
5977	DPF2	HP:0000733	Motor stereotypy	2/8	OMIM:618027
5977	DPF2	HP:0000750	Delayed speech and language development	8/8	OMIM:618027
5977	DPF2	HP:0000750	Delayed speech and language development	-	OMIM:615777
5977	DPF2	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:1465
5977	DPF2	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1465
5977	DPF2	HP:0000722	Compulsive behaviors	1/8	OMIM:618027
5977	DPF2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1465
5977	DPF2	HP:0011461	Fetal onset	7/7	OMIM:615777
5977	DPF2	HP:0000774	Narrow chest	2/7	OMIM:615777
5977	DPF2	HP:0004442	Sagittal craniosynostosis	2/8	OMIM:618027
5977	DPF2	HP:0003196	Short nose	HP:0040282	ORPHA:1465
5977	DPF2	HP:0000926	Platyspondyly	1/7	OMIM:615777
5977	DPF2	HP:0003180	Flat acetabular roof	-	OMIM:615777
5977	DPF2	HP:0004482	Relative macrocephaly	-	OMIM:615777
5977	DPF2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
5977	DPF2	HP:0012810	Wide nasal base	HP:0040282	ORPHA:1465
5977	DPF2	HP:0000823	Delayed puberty	-	OMIM:131300
5977	DPF2	HP:0000894	Short clavicles	-	OMIM:615777
5977	DPF2	HP:0009237	Short 5th finger	HP:0040282	ORPHA:1465
5977	DPF2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
5977	DPF2	HP:0000998	Hypertrichosis	HP:0040281	ORPHA:1465
5977	DPF2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
5977	DPF2	HP:0000286	Epicanthus	2/7	OMIM:618027
5977	DPF2	HP:0000286	Epicanthus	1/7	OMIM:615777
5977	DPF2	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1465
5977	DPF2	HP:0000280	Coarse facial features	2/7	OMIM:615777
5977	DPF2	HP:0000280	Coarse facial features	2/8	OMIM:618027
5977	DPF2	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:1465
5977	DPF2	HP:0000289	Broad philtrum	3/8	OMIM:618027
5977	DPF2	HP:0000289	Broad philtrum	HP:0040282	ORPHA:1465
5977	DPF2	HP:0002827	Hip dislocation	3/7	OMIM:615777
5977	DPF2	HP:0030084	Clinodactyly	HP:0040282	ORPHA:1465
5977	DPF2	HP:0000243	Trigonocephaly	1/8	OMIM:618027
5977	DPF2	HP:0000252	Microcephaly	HP:0040284	ORPHA:1465
5977	DPF2	HP:0000252	Microcephaly	-	OMIM:615777
5977	DPF2	HP:0002884	Hepatoblastoma	HP:0040284	ORPHA:1465
5977	DPF2	HP:0000219	Thin upper lip vermilion	4/8	OMIM:618027
5977	DPF2	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:1465
5977	DPF2	HP:0001562	Oligohydramnios	1/8	OMIM:618027
5977	DPF2	HP:0002895	Papillary thyroid carcinoma	HP:0040284	ORPHA:1465
5977	DPF2	HP:0001561	Polyhydramnios	1/8	OMIM:618027
5977	DPF2	HP:0002857	Genu valgum	-	OMIM:131300
5977	DPF2	HP:0001533	Slender build	-	OMIM:131300
5977	DPF2	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:1465
5977	DPF2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
5977	DPF2	HP:0001510	Growth delay	HP:0040282	ORPHA:1465
5977	DPF2	HP:0007807	Optic nerve compression	-	OMIM:131300
5977	DPF2	HP:0012368	Flat face	7/7	OMIM:615777
5977	DPF2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
5977	DPF2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:1465
5977	DPF2	HP:0000365	Hearing impairment	4/8	OMIM:618027
5977	DPF2	HP:0000365	Hearing impairment	10/67	OMIM:131300
5977	DPF2	HP:0000358	Posteriorly rotated ears	3/8	OMIM:618027
5977	DPF2	HP:0000369	Low-set ears	4/7	OMIM:618027
5977	DPF2	HP:0000343	Long philtrum	1/7	OMIM:615777
5977	DPF2	HP:0011001	Increased bone mineral density	-	OMIM:131300
5977	DPF2	HP:0001647	Bicuspid aortic valve	1/8	OMIM:618027
5977	DPF2	HP:0000316	Hypertelorism	2/8	OMIM:618027
5977	DPF2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1465
5977	DPF2	HP:0000311	Round face	2/7	OMIM:615777
5977	DPF2	HP:0000322	Short philtrum	4/8	OMIM:618027
5977	DPF2	HP:0001655	Patent foramen ovale	1/8	OMIM:618027
5977	DPF2	HP:0001629	Ventricular septal defect	1/8	OMIM:618027
5977	DPF2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:1465
5977	DPF2	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:1465
5977	DPF2	HP:0002970	Genu varum	-	OMIM:615777
5977	DPF2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1465
5977	DPF2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1465
5977	DPF2	HP:0000303	Mandibular prognathia	-	OMIM:131300
5977	DPF2	HP:0000403	Recurrent otitis media	4/6	OMIM:618027
5977	DPF2	HP:0000400	Macrotia	3/8	OMIM:618027
5977	DPF2	HP:0005280	Depressed nasal bridge	3/8	OMIM:618027
5977	DPF2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1465
5977	DPF2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
5977	DPF2	HP:0000486	Strabismus	HP:0040282	ORPHA:1465
5977	DPF2	HP:0000486	Strabismus	2/8	OMIM:618027
5977	DPF2	HP:0000494	Downslanted palpebral fissures	6/7	OMIM:618027
5977	DPF2	HP:0001792	Small nail	HP:0040281	ORPHA:1465
5977	DPF2	HP:0000463	Anteverted nares	1/8	OMIM:618027
5977	DPF2	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1465
5977	DPF2	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:1465
5977	DPF2	HP:0000470	Short neck	1/7	OMIM:615777
5977	DPF2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
5977	DPF2	HP:0001763	Pes planus	1/7	OMIM:615777
5977	DPF2	HP:0000444	Convex nasal ridge	1/8	OMIM:618027
5977	DPF2	HP:0000445	Wide nose	4/8	OMIM:618027
5977	DPF2	HP:0001840	Metatarsus adductus	-	OMIM:615777
5977	DPF2	HP:0000520	Proptosis	2/4	OMIM:131300
5977	DPF2	HP:0000520	Proptosis	7/7	OMIM:615777
5977	DPF2	HP:0000508	Ptosis	HP:0040282	ORPHA:1465
5977	DPF2	HP:0000505	Visual impairment	HP:0040282	ORPHA:1465
5977	DPF2	HP:0000592	Blue sclerae	2/7	OMIM:615777
5977	DPF2	HP:0011231	Prominent eyelashes	HP:0040281	ORPHA:1465
5977	DPF2	HP:0011220	Prominent forehead	5/8	OMIM:618027
5977	DPF2	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:1465
5977	DPF2	HP:0000574	Thick eyebrow	3/7	OMIM:618027
5977	DPF2	HP:0000540	Hypermetropia	1/8	OMIM:618027
5977	DPF2	HP:0012523	Oral aversion	HP:0040283	ORPHA:1465
5977	DPF2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
5977	DPF2	HP:0012514	Lower limb pain	4/4	OMIM:131300
5977	DPF2	HP:0000545	Myopia	HP:0040283	ORPHA:1465
5978	REST	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:654
5978	REST	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:654
5978	REST	HP:0000047	Hypospadias	HP:0040283	ORPHA:654
5978	REST	HP:0033834	Malaise	HP:0040283	ORPHA:654
5978	REST	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:654
5978	REST	HP:0002664	Neoplasm	HP:0040281	ORPHA:654
5978	REST	HP:0002667	Nephroblastoma	-	OMIM:616806
5978	REST	HP:0002667	Nephroblastoma	HP:0040281	ORPHA:654
5978	REST	HP:0000006	Autosomal dominant inheritance	-	OMIM:617626
5978	REST	HP:0000006	Autosomal dominant inheritance	-	OMIM:612431
5978	REST	HP:0000006	Autosomal dominant inheritance	-	OMIM:616806
5978	REST	HP:0031105	Abnormal uterus morphology	HP:0040283	ORPHA:654
5978	REST	HP:0000169	Gingival fibromatosis	HP:0040281	ORPHA:2024
5978	REST	HP:0000169	Gingival fibromatosis	9/9	OMIM:617626
5978	REST	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:654
5978	REST	HP:0002027	Abdominal pain	HP:0040282	ORPHA:654
5978	REST	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:654
5978	REST	HP:0002094	Dyspnea	HP:0040284	ORPHA:654
5978	REST	HP:0003593	Infantile onset	4/18	OMIM:616806
5978	REST	HP:0008330	Reduced von Willebrand factor activity	HP:0040283	ORPHA:654
5978	REST	HP:0003621	Juvenile onset	2/8	OMIM:617626
5978	REST	HP:0003621	Juvenile onset	1/18	OMIM:616806
5978	REST	HP:0005580	Duplication of renal pelvis	HP:0040282	ORPHA:654
5978	REST	HP:0001945	Fever	HP:0040283	ORPHA:654
5978	REST	HP:0001903	Anemia	HP:0040283	ORPHA:654
5978	REST	HP:0001901	Polycythemia	HP:0040283	ORPHA:654
5978	REST	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:654
5978	REST	HP:0000766	Abnormal sternum morphology	3/9	OMIM:617626
5978	REST	HP:0011463	Childhood onset	6/8	OMIM:617626
5978	REST	HP:0011463	Childhood onset	13/18	OMIM:616806
5978	REST	HP:0012871	Varicocele	HP:0040283	ORPHA:654
5978	REST	HP:0000822	Hypertension	HP:0040283	ORPHA:654
5978	REST	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:654
5978	REST	HP:0000212	Gingival overgrowth	HP:0040281	ORPHA:2024
5978	REST	HP:0001528	Hemihypertrophy	HP:0040283	ORPHA:654
5978	REST	HP:0031500	Abdominal mass	HP:0040281	ORPHA:654
5978	REST	HP:0002907	Microscopic hematuria	HP:0040283	ORPHA:654
5978	REST	HP:0000407	Sensorineural hearing impairment	-	OMIM:612431
5978	REST	HP:0000526	Aniridia	HP:0040283	ORPHA:654
5978	REST	HP:0001824	Weight loss	HP:0040283	ORPHA:654
5978	REST	HP:0012587	Macroscopic hematuria	HP:0040282	ORPHA:654
5979	RET	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:29072
5979	RET	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:276621
5979	RET	HP:0025269	Panic attack	HP:0040283	ORPHA:29072
5979	RET	HP:0025269	Panic attack	HP:0040283	ORPHA:276621
5979	RET	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:29072
5979	RET	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:276621
5979	RET	HP:0001290	Generalized hypotonia	-	OMIM:162300
5979	RET	HP:0100806	Sepsis	HP:0040283	ORPHA:388
5979	RET	HP:0001250	Seizure	HP:0040282	ORPHA:99803
5979	RET	HP:0001252	Hypotonia	HP:0040282	ORPHA:99803
5979	RET	HP:0001252	Hypotonia	-	OMIM:162300
5979	RET	HP:0001249	Intellectual disability	HP:0040282	ORPHA:99803
5979	RET	HP:0001263	Global developmental delay	-	OMIM:162300
5979	RET	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1848
5979	RET	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:29072
5979	RET	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:276621
5979	RET	HP:0032346	Cutaneous lichen amyloidosis	-	OMIM:171400
5979	RET	HP:0025388	Thyroid nodule	2/2	OMIM:171400
5979	RET	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:29072
5979	RET	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:276621
5979	RET	HP:0000093	Proteinuria	-	OMIM:171300
5979	RET	HP:0000093	Proteinuria	HP:0040282	ORPHA:276621
5979	RET	HP:0000093	Proteinuria	HP:0040282	ORPHA:29072
5979	RET	HP:0001382	Joint hypermobility	-	OMIM:162300
5979	RET	HP:0002664	Neoplasm	-	OMIM:171300
5979	RET	HP:0001342	Cerebral hemorrhage	-	OMIM:171300
5979	RET	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:29072
5979	RET	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:276621
5979	RET	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:1848
5979	RET	HP:0002668	Paraganglioma	HP:0040281	ORPHA:29072
5979	RET	HP:0002668	Paraganglioma	HP:0040281	ORPHA:276621
5979	RET	HP:0001337	Tremor	HP:0040283	ORPHA:29072
5979	RET	HP:0001337	Tremor	HP:0040283	ORPHA:276621
5979	RET	HP:0000006	Autosomal dominant inheritance	-	OMIM:162300
5979	RET	HP:0000006	Autosomal dominant inheritance	-	OMIM:142623
5979	RET	HP:0000006	Autosomal dominant inheritance	-	OMIM:171400
5979	RET	HP:0000006	Autosomal dominant inheritance	-	OMIM:171300
5979	RET	HP:0000006	Autosomal dominant inheritance	-	OMIM:155240
5979	RET	HP:0002666	Pheochromocytoma	-	OMIM:162300
5979	RET	HP:0002666	Pheochromocytoma	67/189	OMIM:171400
5979	RET	HP:0002666	Pheochromocytoma	-	OMIM:171300
5979	RET	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:29072
5979	RET	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:276621
5979	RET	HP:0002650	Scoliosis	-	OMIM:162300
5979	RET	HP:0000179	Thick lower lip vermilion	-	OMIM:162300
5979	RET	HP:0000175	Cleft palate	HP:0040283	ORPHA:1848
5979	RET	HP:0031284	Flushing	-	OMIM:162300
5979	RET	HP:0031284	Flushing	HP:0040282	ORPHA:29072
5979	RET	HP:0031284	Flushing	HP:0040282	ORPHA:276621
5979	RET	HP:0002705	High, narrow palate	-	OMIM:162300
5979	RET	HP:0000104	Renal agenesis	HP:0040281	ORPHA:1848
5979	RET	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:99803
5979	RET	HP:0002018	Nausea	HP:0040282	ORPHA:276621
5979	RET	HP:0002018	Nausea	HP:0040282	ORPHA:29072
5979	RET	HP:0002019	Constipation	HP:0040281	ORPHA:388
5979	RET	HP:0002019	Constipation	-	OMIM:142623
5979	RET	HP:0002019	Constipation	-	OMIM:162300
5979	RET	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:388
5979	RET	HP:0002027	Abdominal pain	HP:0040281	ORPHA:388
5979	RET	HP:0005994	Nodular goiter	-	OMIM:162300
5979	RET	HP:0003345	Elevated urinary norepinephrine level	-	OMIM:171300
5979	RET	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:29072
5979	RET	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:276621
5979	RET	HP:0003345	Elevated urinary norepinephrine level	28/48	OMIM:171400
5979	RET	HP:0002014	Diarrhea	HP:0040283	ORPHA:388
5979	RET	HP:0002014	Diarrhea	-	OMIM:162300
5979	RET	HP:0002013	Vomiting	-	OMIM:142623
5979	RET	HP:0003307	Hyperlordosis	-	OMIM:162300
5979	RET	HP:0005957	Breathing dysregulation	HP:0040281	ORPHA:99803
5979	RET	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:1848
5979	RET	HP:0011781	Thyroid C cell hyperplasia	-	OMIM:171400
5979	RET	HP:0100589	Urogenital fistula	HP:0040282	ORPHA:1848
5979	RET	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:29072
5979	RET	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:276621
5979	RET	HP:0010497	Sirenomelia	HP:0040283	ORPHA:1848
5979	RET	HP:6000224	Delayed passage of meconium	HP:0040282	ORPHA:388
5979	RET	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:29072
5979	RET	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:276621
5979	RET	HP:0010536	Central sleep apnea	HP:0040281	ORPHA:99803
5979	RET	HP:0008208	Parathyroid hyperplasia	-	OMIM:162300
5979	RET	HP:0003574	Positive regitine blocking test	-	OMIM:171300
5979	RET	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:29072
5979	RET	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:276621
5979	RET	HP:0002242	Abnormal intestine morphology	HP:0040282	ORPHA:1848
5979	RET	HP:0002253	Colonic diverticula	-	OMIM:162300
5979	RET	HP:0003581	Adult onset	1/2	OMIM:171400
5979	RET	HP:0002251	Aganglionic megacolon	-	OMIM:162300
5979	RET	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:388
5979	RET	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:99803
5979	RET	HP:0002251	Aganglionic megacolon	-	OMIM:171400
5979	RET	HP:0002251	Aganglionic megacolon	-	OMIM:142623
5979	RET	HP:0003528	Elevated circulating calcitonin concentration	-	OMIM:162300
5979	RET	HP:0003528	Elevated circulating calcitonin concentration	HP:0040283	ORPHA:29072
5979	RET	HP:0003528	Elevated circulating calcitonin concentration	2/2	OMIM:171400
5979	RET	HP:0009711	Retinal capillary hemangioma	HP:0040283	ORPHA:29072
5979	RET	HP:0100735	Hypertensive crisis	1/2	OMIM:171400
5979	RET	HP:0100749	Chest pain	HP:0040282	ORPHA:276621
5979	RET	HP:0100749	Chest pain	3/54	OMIM:171400
5979	RET	HP:0100749	Chest pain	HP:0040282	ORPHA:29072
5979	RET	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:29072
5979	RET	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:276621
5979	RET	HP:0011979	Elevated urinary dopamine level	25/48	OMIM:171400
5979	RET	HP:0011978	Elevated urinary vanillylmandelic acid	28/48	OMIM:171400
5979	RET	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:388
5979	RET	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:29072
5979	RET	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:276621
5979	RET	HP:0001028	Hemangioma	-	OMIM:171300
5979	RET	HP:0002315	Headache	5/54	OMIM:171400
5979	RET	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:29072
5979	RET	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:276621
5979	RET	HP:0001095	Hypertensive retinopathy	-	OMIM:171300
5979	RET	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:29072
5979	RET	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:276621
5979	RET	HP:0007110	Central hypoventilation	HP:0040281	ORPHA:99803
5979	RET	HP:0003639	Elevated urinary epinephrine level	-	OMIM:162300
5979	RET	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:29072
5979	RET	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:276621
5979	RET	HP:0003639	Elevated urinary epinephrine level	36/48	OMIM:171400
5979	RET	HP:0034754	Bilious emesis	HP:0040282	ORPHA:388
5979	RET	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:29072
5979	RET	HP:0001962	Palpitations	HP:0040282	ORPHA:276621
5979	RET	HP:0001962	Palpitations	10/54	OMIM:171400
5979	RET	HP:0001962	Palpitations	HP:0040282	ORPHA:29072
5979	RET	HP:0001958	Nonketotic hypoglycemia	HP:0040281	ORPHA:1848
5979	RET	HP:0001920	Renal artery stenosis	-	OMIM:171300
5979	RET	HP:0004322	Short stature	HP:0040283	ORPHA:388
5979	RET	HP:0003005	Ganglioneuroma	-	OMIM:162300
5979	RET	HP:0003005	Ganglioneuroma	HP:0040283	ORPHA:99803
5979	RET	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1848
5979	RET	HP:0003072	Hypercalcemia	-	OMIM:171300
5979	RET	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:29072
5979	RET	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:276621
5979	RET	HP:0004387	Enterocolitis	HP:0040283	ORPHA:388
5979	RET	HP:0004387	Enterocolitis	-	OMIM:142623
5979	RET	HP:0004362	Abnormal enteric ganglion morphology	-	OMIM:142623
5979	RET	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:99803
5979	RET	HP:0000767	Pectus excavatum	-	OMIM:162300
5979	RET	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040281	ORPHA:388
5979	RET	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:29072
5979	RET	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:276621
5979	RET	HP:0011462	Young adult onset	1/2	OMIM:171400
5979	RET	HP:0000790	Hematuria	HP:0040283	ORPHA:276621
5979	RET	HP:0000790	Hematuria	HP:0040283	ORPHA:29072
5979	RET	HP:0003118	Increased circulating cortisol level	-	OMIM:171400
5979	RET	HP:0003198	Myopathy	-	OMIM:162300
5979	RET	HP:0000875	Episodic hypertension	-	OMIM:171300
5979	RET	HP:0100335	Non-midline cleft of the upper lip	HP:0040283	ORPHA:1848
5979	RET	HP:0000843	Hyperparathyroidism	10/12	OMIM:171400
5979	RET	HP:0000822	Hypertension	13/54	OMIM:171400
5979	RET	HP:0003270	Abdominal distention	HP:0040282	ORPHA:388
5979	RET	HP:0003270	Abdominal distention	-	OMIM:142623
5979	RET	HP:0000980	Pallor	HP:0040283	ORPHA:276621
5979	RET	HP:0000980	Pallor	HP:0040283	ORPHA:29072
5979	RET	HP:0000975	Hyperhidrosis	-	OMIM:171300
5979	RET	HP:0000957	Cafe-au-lait spot	-	OMIM:171300
5979	RET	HP:0000286	Epicanthus	HP:0040281	ORPHA:1848
5979	RET	HP:0006461	Proximal femoral epiphysiolysis	-	OMIM:162300
5979	RET	HP:0005107	Abnormal sacrum morphology	HP:0040282	ORPHA:1848
5979	RET	HP:0002808	Kyphosis	-	OMIM:162300
5979	RET	HP:0002897	Parathyroid adenoma	-	OMIM:171400
5979	RET	HP:0012222	Arachnoid hemangiomatosis	HP:0040283	ORPHA:29072
5979	RET	HP:0000218	High palate	-	OMIM:162300
5979	RET	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:99803
5979	RET	HP:0001562	Oligohydramnios	HP:0040281	ORPHA:1848
5979	RET	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:388
5979	RET	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:99803
5979	RET	HP:0001563	Fetal polyuria	HP:0040282	ORPHA:1848
5979	RET	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:99803
5979	RET	HP:0001531	Failure to thrive in infancy	-	OMIM:162300
5979	RET	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:388
5979	RET	HP:0001522	Death in infancy	HP:0040282	ORPHA:99803
5979	RET	HP:0002865	Medullary thyroid carcinoma	-	OMIM:162300
5979	RET	HP:0002865	Medullary thyroid carcinoma	-	OMIM:155240
5979	RET	HP:0002865	Medullary thyroid carcinoma	17/30	OMIM:171400
5979	RET	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:29072
5979	RET	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:276621
5979	RET	HP:0031369	Colon perforation	HP:0040283	ORPHA:388
5979	RET	HP:0001508	Failure to thrive	HP:0040281	ORPHA:99803
5979	RET	HP:0001519	Disproportionate tall stature	-	OMIM:162300
5979	RET	HP:0001518	Small for gestational age	HP:0040281	ORPHA:99803
5979	RET	HP:0001510	Growth delay	HP:0040283	ORPHA:388
5979	RET	HP:0012378	Fatigue	HP:0040282	ORPHA:276621
5979	RET	HP:0012378	Fatigue	HP:0040282	ORPHA:29072
5979	RET	HP:0005214	Intestinal obstruction	HP:0040281	ORPHA:388
5979	RET	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:29072
5979	RET	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:276621
5979	RET	HP:0001618	Dysphonia	HP:0040282	ORPHA:29072
5979	RET	HP:0001618	Dysphonia	HP:0040282	ORPHA:276621
5979	RET	HP:0000369	Low-set ears	HP:0040281	ORPHA:1848
5979	RET	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040281	ORPHA:99803
5979	RET	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1848
5979	RET	HP:0001649	Tachycardia	-	OMIM:171300
5979	RET	HP:0001635	Congestive heart failure	-	OMIM:171300
5979	RET	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:276621
5979	RET	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:29072
5979	RET	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:99803
5979	RET	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:276621
5979	RET	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:29072
5979	RET	HP:0000486	Strabismus	HP:0040281	ORPHA:99803
5979	RET	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:1848
5979	RET	HP:0001761	Pes cavus	-	OMIM:162300
5979	RET	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:29072
5979	RET	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:276621
5979	RET	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:29072
5979	RET	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:276621
5979	RET	HP:0000519	Developmental cataract	-	OMIM:171300
5979	RET	HP:0000526	Aniridia	HP:0040284	ORPHA:29072
5979	RET	HP:0001824	Weight loss	HP:0040282	ORPHA:388
5979	RET	HP:0001824	Weight loss	HP:0040282	ORPHA:276621
5979	RET	HP:0001824	Weight loss	HP:0040282	ORPHA:29072
5979	RET	HP:0000574	Thick eyebrow	-	OMIM:162300
5980	REV3L	HP:0001156	Brachydactyly	HP:0040282	ORPHA:570
5980	REV3L	HP:0001270	Motor delay	HP:0040282	ORPHA:570
5980	REV3L	HP:0001252	Hypotonia	HP:0040282	ORPHA:570
5980	REV3L	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:570
5980	REV3L	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:570
5980	REV3L	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:570
5980	REV3L	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:570
5980	REV3L	HP:0000194	Open mouth	HP:0040281	ORPHA:570
5980	REV3L	HP:0000175	Cleft palate	HP:0040283	ORPHA:570
5980	REV3L	HP:0002015	Dysphagia	HP:0040282	ORPHA:570
5980	REV3L	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	HP:0040283	ORPHA:570
5980	REV3L	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040283	ORPHA:570
5980	REV3L	HP:0100783	Breast aplasia	HP:0040283	ORPHA:570
5980	REV3L	HP:0010628	Facial palsy	HP:0040281	ORPHA:570
5980	REV3L	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:570
5980	REV3L	HP:0009751	Aplasia of the pectoralis major muscle	HP:0040282	ORPHA:570
5980	REV3L	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:570
5980	REV3L	HP:0006824	Cranial nerve paralysis	HP:0040281	ORPHA:570
5980	REV3L	HP:0000602	Ophthalmoplegia	HP:0040281	ORPHA:570
5980	REV3L	HP:0000691	Microdontia	HP:0040283	ORPHA:570
5980	REV3L	HP:0000717	Autism	HP:0040283	ORPHA:570
5980	REV3L	HP:0004408	Abnormality of the sense of smell	HP:0040283	ORPHA:570
5980	REV3L	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:570
5980	REV3L	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:570
5980	REV3L	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:570
5980	REV3L	HP:0000286	Epicanthus	HP:0040283	ORPHA:570
5980	REV3L	HP:0000298	Mask-like facies	HP:0040281	ORPHA:570
5980	REV3L	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:570
5980	REV3L	HP:0000218	High palate	HP:0040283	ORPHA:570
5980	REV3L	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:570
5980	REV3L	HP:0001522	Death in infancy	HP:0040283	ORPHA:570
5980	REV3L	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040283	ORPHA:570
5980	REV3L	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:570
5980	REV3L	HP:0000365	Hearing impairment	HP:0040283	ORPHA:570
5980	REV3L	HP:0000347	Micrognathia	HP:0040283	ORPHA:570
5980	REV3L	HP:0007957	Corneal opacity	HP:0040282	ORPHA:570
5980	REV3L	HP:0000498	Blepharitis	HP:0040283	ORPHA:570
5980	REV3L	HP:0004050	Absent hand	HP:0040283	ORPHA:570
5980	REV3L	HP:0000486	Strabismus	HP:0040281	ORPHA:570
5980	REV3L	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:570
5980	REV3L	HP:0000508	Ptosis	HP:0040281	ORPHA:570
5980	REV3L	HP:0000505	Visual impairment	HP:0040283	ORPHA:570
5981	RFC1	HP:0001151	Impaired horizontal smooth pursuit	-	OMIM:614575
5981	RFC1	HP:0001152	Saccadic smooth pursuit	27/27	OMIM:614575
5981	RFC1	HP:0002494	Abnormal rapid eye movement sleep	2/5	OMIM:614575
5981	RFC1	HP:0002495	Impaired vibratory sensation	21/27	OMIM:614575
5981	RFC1	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:504476
5981	RFC1	HP:0007328	Impaired pain sensation	21/27	OMIM:614575
5981	RFC1	HP:0007230	Decreased distal sensory nerve action potential	8/8	OMIM:614575
5981	RFC1	HP:0008568	Vestibular areflexia	30/56	OMIM:614575
5981	RFC1	HP:0008568	Vestibular areflexia	HP:0040282	ORPHA:504476
5981	RFC1	HP:0002403	Positive Romberg sign	-	OMIM:614575
5981	RFC1	HP:0001272	Cerebellar atrophy	22/27	OMIM:614575
5981	RFC1	HP:0001284	Areflexia	HP:0040282	ORPHA:504476
5981	RFC1	HP:0001251	Ataxia	12/12	OMIM:614575
5981	RFC1	HP:0001265	Hyporeflexia	7/12	OMIM:614575
5981	RFC1	HP:0001260	Dysarthria	HP:0040282	ORPHA:504476
5981	RFC1	HP:0001260	Dysarthria	37/40	OMIM:614575
5981	RFC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614575
5981	RFC1	HP:0001310	Dysmetria	HP:0040282	ORPHA:504476
5981	RFC1	HP:0002080	Intention tremor	HP:0040282	ORPHA:504476
5981	RFC1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:504476
5981	RFC1	HP:0002066	Gait ataxia	39/39	OMIM:614575
5981	RFC1	HP:0002075	Dysdiadochokinesis	HP:0040282	ORPHA:504476
5981	RFC1	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:504476
5981	RFC1	HP:0002070	Limb ataxia	36/38	OMIM:614575
5981	RFC1	HP:0003487	Babinski sign	HP:0040282	ORPHA:504476
5981	RFC1	HP:0003447	Axonal loss	6/6	OMIM:614575
5981	RFC1	HP:0003438	Absent Achilles reflex	15/27	OMIM:614575
5981	RFC1	HP:0002172	Postural instability	-	OMIM:614575
5981	RFC1	HP:0010545	Downbeat nystagmus	5/11	OMIM:614575
5981	RFC1	HP:0003581	Adult onset	40/40	OMIM:614575
5981	RFC1	HP:0003677	Slowly progressive	-	OMIM:614575
5981	RFC1	HP:0009830	Peripheral neuropathy	56/56	OMIM:614575
5981	RFC1	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:504476
5981	RFC1	HP:0007108	Demyelinating peripheral neuropathy	HP:0040282	ORPHA:504476
5981	RFC1	HP:0006855	Cerebellar vermis atrophy	9/10	OMIM:614575
5981	RFC1	HP:0000640	Gaze-evoked nystagmus	27/27	OMIM:614575
5981	RFC1	HP:0000639	Nystagmus	7/12	OMIM:614575
5981	RFC1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:504476
5981	RFC1	HP:0012735	Cough	29/66	OMIM:614575
5981	RFC1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:504476
5981	RFC1	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:504476
5981	RFC1	HP:0000364	Hearing abnormality	0/27	OMIM:614575
5981	RFC1	HP:0012332	Abnormal autonomic nervous system physiology	12/56	OMIM:614575
5981	RFC1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:504476
5982	RFC2	HP:0001181	Adducted thumb	HP:0040283	ORPHA:904
5982	RFC2	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:904
5982	RFC2	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:904
5982	RFC2	HP:0001297	Stroke	HP:0040282	ORPHA:904
5982	RFC2	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:904
5982	RFC2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:904
5982	RFC2	HP:0001252	Hypotonia	HP:0040282	ORPHA:904
5982	RFC2	HP:0001251	Ataxia	HP:0040281	ORPHA:904
5982	RFC2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:904
5982	RFC2	HP:0001260	Dysarthria	HP:0040283	ORPHA:904
5982	RFC2	HP:0001257	Spasticity	HP:0040282	ORPHA:904
5982	RFC2	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:904
5982	RFC2	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:904
5982	RFC2	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:904
5982	RFC2	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040283	ORPHA:904
5982	RFC2	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:904
5982	RFC2	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:904
5982	RFC2	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:904
5982	RFC2	HP:0000093	Proteinuria	HP:0040282	ORPHA:904
5982	RFC2	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:904
5982	RFC2	HP:0000075	Renal duplication	HP:0040283	ORPHA:904
5982	RFC2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:904
5982	RFC2	HP:0001387	Joint stiffness	HP:0040282	ORPHA:904
5982	RFC2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:904
5982	RFC2	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:904
5982	RFC2	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:904
5982	RFC2	HP:0000014	Abnormality of the bladder	HP:0040282	ORPHA:904
5982	RFC2	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:904
5982	RFC2	HP:0001361	Nystagmus-induced head nodding	HP:0040282	ORPHA:904
5982	RFC2	HP:0000025	Functional abnormality of male internal genitalia	HP:0040283	ORPHA:904
5982	RFC2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:904
5982	RFC2	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:904
5982	RFC2	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:904
5982	RFC2	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:904
5982	RFC2	HP:0001337	Tremor	HP:0040281	ORPHA:904
5982	RFC2	HP:0001310	Dysmetria	HP:0040281	ORPHA:904
5982	RFC2	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:904
5982	RFC2	HP:0002650	Scoliosis	HP:0040283	ORPHA:904
5982	RFC2	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:904
5982	RFC2	HP:0002623	Overriding aorta	HP:0040283	ORPHA:904
5982	RFC2	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:904
5982	RFC2	HP:0000158	Macroglossia	HP:0040281	ORPHA:904
5982	RFC2	HP:0000154	Wide mouth	HP:0040281	ORPHA:904
5982	RFC2	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:904
5982	RFC2	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:904
5982	RFC2	HP:0000125	Pelvic kidney	HP:0040282	ORPHA:904
5982	RFC2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:904
5982	RFC2	HP:0002024	Malabsorption	HP:0040283	ORPHA:904
5982	RFC2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:904
5982	RFC2	HP:0002019	Constipation	HP:0040282	ORPHA:904
5982	RFC2	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:904
5982	RFC2	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:904
5982	RFC2	HP:0002027	Abdominal pain	HP:0040281	ORPHA:904
5982	RFC2	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:904
5982	RFC2	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:904
5982	RFC2	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:904
5982	RFC2	HP:0100539	Periorbital edema	HP:0040281	ORPHA:904
5982	RFC2	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:904
5982	RFC2	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:904
5982	RFC2	HP:0002141	Gait imbalance	HP:0040281	ORPHA:904
5982	RFC2	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:904
5982	RFC2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:904
5982	RFC2	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:904
5982	RFC2	HP:0002183	Phonophobia	HP:0040281	ORPHA:904
5982	RFC2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:904
5982	RFC2	HP:0010526	Dysgraphia	HP:0040281	ORPHA:904
5982	RFC2	HP:0002253	Colonic diverticula	HP:0040282	ORPHA:904
5982	RFC2	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:904
5982	RFC2	HP:0100785	Insomnia	HP:0040282	ORPHA:904
5982	RFC2	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:904
5982	RFC2	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:904
5982	RFC2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:904
5982	RFC2	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:904
5982	RFC2	HP:0002376	Developmental regression	HP:0040283	ORPHA:904
5982	RFC2	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:904
5982	RFC2	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:904
5982	RFC2	HP:0010807	Open bite	HP:0040281	ORPHA:904
5982	RFC2	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:904
5982	RFC2	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:904
5982	RFC2	HP:0008499	High hypermetropia	HP:0040281	ORPHA:904
5982	RFC2	HP:0010780	Hyperacusis	HP:0040281	ORPHA:904
5982	RFC2	HP:0002308	Chiari malformation	HP:0040283	ORPHA:904
5982	RFC2	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:904
5982	RFC2	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:904
5982	RFC2	HP:0004295	Abnormal gastric mucosa morphology	HP:0040283	ORPHA:904
5982	RFC2	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:904
5982	RFC2	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040283	ORPHA:904
5982	RFC2	HP:0000635	Blue irides	HP:0040283	ORPHA:904
5982	RFC2	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:904
5982	RFC2	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:904
5982	RFC2	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:904
5982	RFC2	HP:0000691	Microdontia	HP:0040282	ORPHA:904
5982	RFC2	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:904
5982	RFC2	HP:0000670	Carious teeth	HP:0040283	ORPHA:904
5982	RFC2	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:904
5982	RFC2	HP:0000668	Hypodontia	HP:0040282	ORPHA:904
5982	RFC2	HP:0004322	Short stature	HP:0040281	ORPHA:904
5982	RFC2	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:904
5982	RFC2	HP:0004305	Involuntary movements	HP:0040281	ORPHA:904
5982	RFC2	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:904
5982	RFC2	HP:0004381	Supravalvular aortic stenosis	HP:0040282	ORPHA:904
5982	RFC2	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:904
5982	RFC2	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:904
5982	RFC2	HP:0100025	Overfriendliness	HP:0040281	ORPHA:904
5982	RFC2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:904
5982	RFC2	HP:0000739	Anxiety	HP:0040281	ORPHA:904
5982	RFC2	HP:0000716	Depression	HP:0040281	ORPHA:904
5982	RFC2	HP:0000717	Autism	HP:0040282	ORPHA:904
5982	RFC2	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:904
5982	RFC2	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:904
5982	RFC2	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:904
5982	RFC2	HP:0004428	Elfin facies	HP:0040281	ORPHA:904
5982	RFC2	HP:0003198	Myopathy	HP:0040283	ORPHA:904
5982	RFC2	HP:0003196	Short nose	HP:0040281	ORPHA:904
5982	RFC2	HP:0000826	Precocious puberty	HP:0040283	ORPHA:904
5982	RFC2	HP:0000822	Hypertension	HP:0040282	ORPHA:904
5982	RFC2	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:904
5982	RFC2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:904
5982	RFC2	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:904
5982	RFC2	HP:0000960	Sacral dimple	HP:0040282	ORPHA:904
5982	RFC2	HP:0000939	Osteoporosis	HP:0040283	ORPHA:904
5982	RFC2	HP:0000938	Osteopenia	HP:0040283	ORPHA:904
5982	RFC2	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:904
5982	RFC2	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:904
5982	RFC2	HP:0007720	Flat cornea	HP:0040283	ORPHA:904
5982	RFC2	HP:0000286	Epicanthus	HP:0040281	ORPHA:904
5982	RFC2	HP:0000280	Coarse facial features	HP:0040281	ORPHA:904
5982	RFC2	HP:0000275	Narrow face	HP:0040281	ORPHA:904
5982	RFC2	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:904
5982	RFC2	HP:0002829	Arthralgia	HP:0040282	ORPHA:904
5982	RFC2	HP:0002808	Kyphosis	HP:0040282	ORPHA:904
5982	RFC2	HP:0000252	Microcephaly	HP:0040282	ORPHA:904
5982	RFC2	HP:0001582	Redundant skin	HP:0040282	ORPHA:904
5982	RFC2	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:904
5982	RFC2	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:904
5982	RFC2	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:904
5982	RFC2	HP:0002857	Genu valgum	HP:0040282	ORPHA:904
5982	RFC2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:904
5982	RFC2	HP:0001513	Obesity	HP:0040282	ORPHA:904
5982	RFC2	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:904
5982	RFC2	HP:0001609	Hoarse voice	HP:0040281	ORPHA:904
5982	RFC2	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:904
5982	RFC2	HP:0001618	Dysphonia	HP:0040283	ORPHA:904
5982	RFC2	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:904
5982	RFC2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:904
5982	RFC2	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:904
5982	RFC2	HP:0000343	Long philtrum	HP:0040281	ORPHA:904
5982	RFC2	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:904
5982	RFC2	HP:0000337	Broad forehead	HP:0040281	ORPHA:904
5982	RFC2	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:904
5982	RFC2	HP:0000348	High forehead	HP:0040281	ORPHA:904
5982	RFC2	HP:0000347	Micrognathia	HP:0040281	ORPHA:904
5982	RFC2	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:904
5982	RFC2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:904
5982	RFC2	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:904
5982	RFC2	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:904
5982	RFC2	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:904
5982	RFC2	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:904
5982	RFC2	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:904
5982	RFC2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:904
5982	RFC2	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:904
5982	RFC2	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:904
5982	RFC2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:904
5982	RFC2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:904
5982	RFC2	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:904
5982	RFC2	HP:0000307	Pointed chin	HP:0040281	ORPHA:904
5982	RFC2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:904
5982	RFC2	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:904
5982	RFC2	HP:0007957	Corneal opacity	HP:0040283	ORPHA:904
5982	RFC2	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:904
5982	RFC2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:904
5982	RFC2	HP:0000400	Macrotia	HP:0040281	ORPHA:904
5982	RFC2	HP:0000486	Strabismus	HP:0040282	ORPHA:904
5982	RFC2	HP:0000485	Megalocornea	HP:0040283	ORPHA:904
5982	RFC2	HP:0000464	Abnormality of the neck	HP:0040281	ORPHA:904
5982	RFC2	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:904
5982	RFC2	HP:0001763	Pes planus	HP:0040282	ORPHA:904
5982	RFC2	HP:0000411	Protruding ear	HP:0040281	ORPHA:904
5982	RFC2	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:904
5982	RFC2	HP:0000518	Cataract	HP:0040283	ORPHA:904
5982	RFC2	HP:0001822	Hallux valgus	HP:0040282	ORPHA:904
5982	RFC2	HP:0000505	Visual impairment	HP:0040282	ORPHA:904
5982	RFC2	HP:0000501	Glaucoma	HP:0040283	ORPHA:904
5982	RFC2	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:904
5982	RFC2	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:904
5982	RFC2	HP:0000545	Myopia	HP:0040283	ORPHA:904
5993	RFX5	HP:0032218	Decreased proportion of CD4-positive T cells	HP:0040282	ORPHA:572
5993	RFX5	HP:0100806	Sepsis	4/6	OMIM:620816
5993	RFX5	HP:0001260	Dysarthria	HP:0040284	ORPHA:572
5993	RFX5	HP:0010976	Decreased total B cell count	1/5	OMIM:620816
5993	RFX5	HP:0025347	Decreased circulating beta-2-microglobulin level	HP:0040282	ORPHA:572
5993	RFX5	HP:0000007	Autosomal recessive inheritance	-	OMIM:620818
5993	RFX5	HP:0000007	Autosomal recessive inheritance	-	OMIM:620816
5993	RFX5	HP:0002754	Osteomyelitis	1/3	OMIM:620816
5993	RFX5	HP:0002718	Recurrent bacterial infections	HP:0040282	ORPHA:572
5993	RFX5	HP:0002728	Chronic mucocutaneous candidiasis	HP:0040282	ORPHA:572
5993	RFX5	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040282	ORPHA:572
5993	RFX5	HP:0002720	Decreased circulating IgA concentration	-	OMIM:620818
5993	RFX5	HP:0002720	Decreased circulating IgA concentration	1/5	OMIM:620816
5993	RFX5	HP:0030991	Sclerosing cholangitis	HP:0040282	ORPHA:572
5993	RFX5	HP:0002014	Diarrhea	HP:0040282	ORPHA:572
5993	RFX5	HP:0002090	Pneumonia	1/2	OMIM:620818
5993	RFX5	HP:0002066	Gait ataxia	HP:0040284	ORPHA:572
5993	RFX5	HP:0004798	Recurrent infection of the gastrointestinal tract	HP:0040281	ORPHA:572
5993	RFX5	HP:0002110	Bronchiectasis	1/3	OMIM:620816
5993	RFX5	HP:0003593	Infantile onset	2/2	OMIM:620818
5993	RFX5	HP:0003593	Infantile onset	8/8	OMIM:620816
5993	RFX5	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:572
5993	RFX5	HP:0200124	Chronic hepatitis due to cryptosporidium infection	HP:0040282	ORPHA:572
5993	RFX5	HP:0020086	BCGitis	1/5	OMIM:620816
5993	RFX5	HP:0020087	BCGosis	0/3	OMIM:620816
5993	RFX5	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/2	OMIM:620818
5993	RFX5	HP:0100658	Cellulitis	1/2	OMIM:620816
5993	RFX5	HP:0009098	Chronic oral candidiasis	3/6	OMIM:620816
5993	RFX5	HP:0001973	Autoimmune thrombocytopenia	HP:0040283	ORPHA:572
5993	RFX5	HP:0001904	Autoimmune neutropenia	HP:0040283	ORPHA:572
5993	RFX5	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:572
5993	RFX5	HP:0004315	Decreased circulating IgG concentration	-	OMIM:620818
5993	RFX5	HP:0004315	Decreased circulating IgG concentration	0/2	OMIM:620816
5993	RFX5	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040282	ORPHA:572
5993	RFX5	HP:0004385	Protracted diarrhea	HP:0040282	ORPHA:572
5993	RFX5	HP:0004385	Protracted diarrhea	4/8	OMIM:620816
5993	RFX5	HP:0004429	Recurrent viral infections	HP:0040282	ORPHA:572
5993	RFX5	HP:0003139	Panhypogammaglobulinemia	HP:0040283	ORPHA:572
5993	RFX5	HP:0003095	Septic arthritis	1/3	OMIM:620816
5993	RFX5	HP:0000988	Skin rash	HP:0040283	ORPHA:572
5993	RFX5	HP:0031390	Reduced MHC II cell surface expression	HP:0040280	ORPHA:572
5993	RFX5	HP:0031390	Reduced MHC II cell surface expression	-	OMIM:620818
5993	RFX5	HP:0031390	Reduced MHC II cell surface expression	6/6	OMIM:620816
5993	RFX5	HP:0031394	Abnormal CD4:CD8 ratio	HP:0040283	ORPHA:572
5993	RFX5	HP:0000246	Sinusitis	HP:0040282	ORPHA:572
5993	RFX5	HP:0002840	Lymphadenitis	1/2	OMIM:620816
5993	RFX5	HP:0001508	Failure to thrive	5/5	OMIM:620816
5993	RFX5	HP:0001508	Failure to thrive	HP:0040282	ORPHA:572
5993	RFX5	HP:0002850	Decreased circulating total IgM	-	OMIM:620818
5993	RFX5	HP:0002850	Decreased circulating total IgM	4/5	OMIM:620816
5993	RFX5	HP:0031381	Decreased mitogen-induced T-cell proliferation	HP:0040283	ORPHA:572
5993	RFX5	HP:0002841	Recurrent fungal infections	HP:0040282	ORPHA:572
5993	RFX5	HP:0012384	Rhinitis	HP:0040282	ORPHA:572
5993	RFX5	HP:0006532	Recurrent pneumonia	7/8	OMIM:620816
5993	RFX5	HP:0000371	Acute otitis media	HP:0040283	ORPHA:572
5993	RFX5	HP:0002960	Autoimmunity	HP:0040283	ORPHA:572
5993	RFX5	HP:0005386	Recurrent protozoan infections	HP:0040282	ORPHA:572
5993	RFX5	HP:0005354	Absent cellular immunity	HP:0040281	ORPHA:572
5993	RFX5	HP:0005353	Recurrent herpes	HP:0040282	ORPHA:572
5993	RFX5	HP:0005368	Abnormality of humoral immunity	HP:0040282	ORPHA:572
5993	RFX5	HP:0000403	Recurrent otitis media	2/4	OMIM:620816
5993	RFX5	HP:0001744	Splenomegaly	1/2	OMIM:620816
5993	RFX5	HP:0005403	Decreased total T cell count	4/5	OMIM:620816
5993	RFX5	HP:0005403	Decreased total T cell count	HP:0040283	ORPHA:572
5993	RFX5	HP:0005401	Recurrent candida infections	HP:0040282	ORPHA:572
5993	RFX5	HP:0001890	Autoimmune hemolytic anemia	HP:0040283	ORPHA:572
5993	RFX5	HP:0001876	Pancytopenia	HP:0040283	ORPHA:572
5993	RFX5	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:572
5994	RFXAP	HP:0032218	Decreased proportion of CD4-positive T cells	HP:0040282	ORPHA:572
5994	RFXAP	HP:0032218	Decreased proportion of CD4-positive T cells	4/4	OMIM:620817
5994	RFXAP	HP:0001252	Hypotonia	2/3	OMIM:620817
5994	RFXAP	HP:0001251	Ataxia	1/3	OMIM:620817
5994	RFXAP	HP:0001260	Dysarthria	HP:0040284	ORPHA:572
5994	RFXAP	HP:0001263	Global developmental delay	1/3	OMIM:620817
5994	RFXAP	HP:0007340	Lower limb muscle weakness	1/3	OMIM:620817
5994	RFXAP	HP:0025347	Decreased circulating beta-2-microglobulin level	HP:0040282	ORPHA:572
5994	RFXAP	HP:0008897	Postnatal growth retardation	1/1	OMIM:620817
5994	RFXAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:620817
5994	RFXAP	HP:0002718	Recurrent bacterial infections	HP:0040282	ORPHA:572
5994	RFXAP	HP:0002728	Chronic mucocutaneous candidiasis	HP:0040282	ORPHA:572
5994	RFXAP	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040282	ORPHA:572
5994	RFXAP	HP:0002720	Decreased circulating IgA concentration	4/4	OMIM:620817
5994	RFXAP	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	1/1	OMIM:620817
5994	RFXAP	HP:0030991	Sclerosing cholangitis	HP:0040282	ORPHA:572
5994	RFXAP	HP:0002014	Diarrhea	HP:0040282	ORPHA:572
5994	RFXAP	HP:0002066	Gait ataxia	HP:0040284	ORPHA:572
5994	RFXAP	HP:0004798	Recurrent infection of the gastrointestinal tract	HP:0040281	ORPHA:572
5994	RFXAP	HP:0033222	Inverted CD4:CD8 ratio	3/3	OMIM:620817
5994	RFXAP	HP:0003593	Infantile onset	3/4	OMIM:620817
5994	RFXAP	HP:0002240	Hepatomegaly	1/4	OMIM:620817
5994	RFXAP	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:572
5994	RFXAP	HP:0200124	Chronic hepatitis due to cryptosporidium infection	HP:0040282	ORPHA:572
5994	RFXAP	HP:0003623	Neonatal onset	1/3	OMIM:620817
5994	RFXAP	HP:0001973	Autoimmune thrombocytopenia	HP:0040283	ORPHA:572
5994	RFXAP	HP:0001904	Autoimmune neutropenia	HP:0040283	ORPHA:572
5994	RFXAP	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:572
5994	RFXAP	HP:0004315	Decreased circulating IgG concentration	4/4	OMIM:620817
5994	RFXAP	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040282	ORPHA:572
5994	RFXAP	HP:0004385	Protracted diarrhea	HP:0040282	ORPHA:572
5994	RFXAP	HP:0004385	Protracted diarrhea	3/3	OMIM:620817
5994	RFXAP	HP:0004429	Recurrent viral infections	HP:0040282	ORPHA:572
5994	RFXAP	HP:0003139	Panhypogammaglobulinemia	HP:0040283	ORPHA:572
5994	RFXAP	HP:0000988	Skin rash	HP:0040283	ORPHA:572
5994	RFXAP	HP:0031390	Reduced MHC II cell surface expression	HP:0040280	ORPHA:572
5994	RFXAP	HP:0031394	Abnormal CD4:CD8 ratio	HP:0040283	ORPHA:572
5994	RFXAP	HP:0000246	Sinusitis	HP:0040282	ORPHA:572
5994	RFXAP	HP:0001508	Failure to thrive	2/3	OMIM:620817
5994	RFXAP	HP:0001508	Failure to thrive	HP:0040282	ORPHA:572
5994	RFXAP	HP:0002850	Decreased circulating total IgM	2/4	OMIM:620817
5994	RFXAP	HP:0031381	Decreased mitogen-induced T-cell proliferation	HP:0040283	ORPHA:572
5994	RFXAP	HP:0002841	Recurrent fungal infections	HP:0040282	ORPHA:572
5994	RFXAP	HP:0012384	Rhinitis	HP:0040282	ORPHA:572
5994	RFXAP	HP:0006532	Recurrent pneumonia	3/3	OMIM:620817
5994	RFXAP	HP:0000371	Acute otitis media	HP:0040283	ORPHA:572
5994	RFXAP	HP:0002960	Autoimmunity	HP:0040283	ORPHA:572
5994	RFXAP	HP:0005386	Recurrent protozoan infections	HP:0040282	ORPHA:572
5994	RFXAP	HP:0005354	Absent cellular immunity	HP:0040281	ORPHA:572
5994	RFXAP	HP:0005353	Recurrent herpes	HP:0040282	ORPHA:572
5994	RFXAP	HP:0005368	Abnormality of humoral immunity	HP:0040282	ORPHA:572
5994	RFXAP	HP:0000403	Recurrent otitis media	0/3	OMIM:620817
5994	RFXAP	HP:0012444	Brain atrophy	1/1	OMIM:620817
5994	RFXAP	HP:0001744	Splenomegaly	1/1	OMIM:620817
5994	RFXAP	HP:0005403	Decreased total T cell count	HP:0040283	ORPHA:572
5994	RFXAP	HP:0005401	Recurrent candida infections	HP:0040282	ORPHA:572
5994	RFXAP	HP:0005401	Recurrent candida infections	1/1	OMIM:620817
5994	RFXAP	HP:0001890	Autoimmune hemolytic anemia	HP:0040283	ORPHA:572
5994	RFXAP	HP:0001876	Pancytopenia	HP:0040283	ORPHA:572
5994	RFXAP	HP:0001875	Decreased total neutrophil count	1/3	OMIM:620817
5994	RFXAP	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:572
5995	RGR	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
5995	RGR	HP:0001133	Constriction of peripheral visual field	-	OMIM:613769
5995	RGR	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
5995	RGR	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
5995	RGR	HP:0000007	Autosomal recessive inheritance	-	OMIM:613769
5995	RGR	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
5995	RGR	HP:0000006	Autosomal dominant inheritance	-	OMIM:613769
5995	RGR	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
5995	RGR	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
5995	RGR	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
5995	RGR	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
5995	RGR	HP:0003621	Juvenile onset	8/19	OMIM:180100
5995	RGR	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
5995	RGR	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
5995	RGR	HP:0000618	Blindness	HP:0040281	ORPHA:791
5995	RGR	HP:0000613	Photophobia	HP:0040281	ORPHA:791
5995	RGR	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
5995	RGR	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
5995	RGR	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
5995	RGR	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
5995	RGR	HP:0000662	Nyctalopia	26/28	OMIM:180100
5995	RGR	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	-	OMIM:613769
5995	RGR	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
5995	RGR	HP:0011463	Childhood onset	3/19	OMIM:180100
5995	RGR	HP:0011462	Young adult onset	8/19	OMIM:180100
5995	RGR	HP:0030786	Photopsia	HP:0040283	ORPHA:791
5995	RGR	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
5995	RGR	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
5995	RGR	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
5995	RGR	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
5995	RGR	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
5995	RGR	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
5995	RGR	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
5995	RGR	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
5995	RGR	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:613769
5995	RGR	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
5995	RGR	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
5995	RGR	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
5995	RGR	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
5995	RGR	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
5995	RGR	HP:0000510	Rod-cone dystrophy	-	OMIM:613769
5995	RGR	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
5995	RGR	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
5995	RGR	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
5995	RGR	HP:0000505	Visual impairment	-	OMIM:613769
5995	RGR	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
5995	RGR	HP:0000575	Scotoma	5/18	OMIM:180100
5995	RGR	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
5995	RGR	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
5995	RGR	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
5995	RGR	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
5995	RGR	HP:0000543	Optic disc pallor	1/1	OMIM:180100
5995	RGR	HP:0000545	Myopia	-	OMIM:180100
6005	RHAG	HP:0032231	Hypochromia	HP:0040282	ORPHA:71275
6005	RHAG	HP:0032366	Positive direct antiglobulin test	HP:0040281	ORPHA:71275
6005	RHAG	HP:0000006	Autosomal dominant inheritance	-	OMIM:185000
6005	RHAG	HP:0000006	Autosomal dominant inheritance	-	OMIM:268150
6005	RHAG	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:3203
6005	RHAG	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:71275
6005	RHAG	HP:0002789	Tachypnea	HP:0040283	ORPHA:71275
6005	RHAG	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:71275
6005	RHAG	HP:0008282	Unconjugated hyperbilirubinemia	-	OMIM:268150
6005	RHAG	HP:0003575	Increased intracellular sodium	-	OMIM:185000
6005	RHAG	HP:0002240	Hepatomegaly	-	OMIM:185000
6005	RHAG	HP:0002204	Pulmonary embolism	2/4	OMIM:185000
6005	RHAG	HP:0001046	Intermittent jaundice	HP:0040283	ORPHA:3203
6005	RHAG	HP:0025065	Abnormal mean corpuscular volume	HP:0040281	ORPHA:3203
6005	RHAG	HP:0003623	Neonatal onset	4/4	OMIM:185000
6005	RHAG	HP:0020181	Reduced haptoglobin level	HP:0040281	ORPHA:71275
6005	RHAG	HP:0005518	Increased mean corpuscular volume	1/4	OMIM:185000
6005	RHAG	HP:0005502	Increased red cell osmotic fragility	17/17	OMIM:185000
6005	RHAG	HP:0005502	Increased red cell osmotic fragility	-	OMIM:268150
6005	RHAG	HP:0005502	Increased red cell osmotic fragility	HP:0040281	ORPHA:3203
6005	RHAG	HP:0005502	Increased red cell osmotic fragility	HP:0040281	ORPHA:71275
6005	RHAG	HP:0001977	Abnormal thrombosis	HP:0040283	ORPHA:3203
6005	RHAG	HP:0001972	Macrocytic anemia	HP:0040284	ORPHA:71275
6005	RHAG	HP:0001923	Reticulocytosis	4/4	OMIM:185000
6005	RHAG	HP:0001923	Reticulocytosis	HP:0040281	ORPHA:3203
6005	RHAG	HP:0001923	Reticulocytosis	HP:0040281	ORPHA:71275
6005	RHAG	HP:0004446	Stomatocytosis	17/17	OMIM:185000
6005	RHAG	HP:0004446	Stomatocytosis	-	OMIM:268150
6005	RHAG	HP:0004446	Stomatocytosis	HP:0040281	ORPHA:3203
6005	RHAG	HP:0004446	Stomatocytosis	HP:0040282	ORPHA:71275
6005	RHAG	HP:0004444	Spherocytosis	HP:0040282	ORPHA:71275
6005	RHAG	HP:0000952	Jaundice	3/4	OMIM:185000
6005	RHAG	HP:0000952	Jaundice	HP:0040283	ORPHA:71275
6005	RHAG	HP:0000952	Jaundice	-	OMIM:268150
6005	RHAG	HP:0025547	Decreased mean corpuscular hemoglobin concentration	HP:0040281	ORPHA:3203
6005	RHAG	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:71275
6005	RHAG	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:71275
6005	RHAG	HP:0012378	Fatigue	1/4	OMIM:185000
6005	RHAG	HP:0005268	Miscarriage	HP:0040283	ORPHA:71275
6005	RHAG	HP:0006579	Prolonged neonatal jaundice	1/4	OMIM:185000
6005	RHAG	HP:0002904	Hyperbilirubinemia	-	OMIM:185000
6005	RHAG	HP:0002904	Hyperbilirubinemia	HP:0040282	ORPHA:71275
6005	RHAG	HP:0001649	Tachycardia	HP:0040283	ORPHA:71275
6005	RHAG	HP:0012418	Hypoxemia	HP:0040283	ORPHA:71275
6005	RHAG	HP:0001744	Splenomegaly	-	OMIM:185000
6005	RHAG	HP:0001744	Splenomegaly	HP:0040283	ORPHA:3203
6005	RHAG	HP:0011273	Anisocytosis	HP:0040283	ORPHA:3203
6005	RHAG	HP:0011273	Anisocytosis	HP:0040283	ORPHA:71275
6005	RHAG	HP:0001878	Hemolytic anemia	17/17	OMIM:185000
6005	RHAG	HP:0001878	Hemolytic anemia	-	OMIM:268150
6005	RHAG	HP:0001878	Hemolytic anemia	HP:0040281	ORPHA:3203
6005	RHAG	HP:0001878	Hemolytic anemia	HP:0040281	ORPHA:71275
6006	RHCE	HP:0032231	Hypochromia	HP:0040282	ORPHA:71275
6006	RHCE	HP:0032366	Positive direct antiglobulin test	HP:0040281	ORPHA:71275
6006	RHCE	HP:0000007	Autosomal recessive inheritance	-	OMIM:617970
6006	RHCE	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:71275
6006	RHCE	HP:0002789	Tachypnea	HP:0040283	ORPHA:71275
6006	RHCE	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:71275
6006	RHCE	HP:0020181	Reduced haptoglobin level	HP:0040281	ORPHA:71275
6006	RHCE	HP:0005502	Increased red cell osmotic fragility	-	OMIM:617970
6006	RHCE	HP:0005502	Increased red cell osmotic fragility	HP:0040281	ORPHA:71275
6006	RHCE	HP:0001972	Macrocytic anemia	HP:0040284	ORPHA:71275
6006	RHCE	HP:0001923	Reticulocytosis	-	OMIM:617970
6006	RHCE	HP:0001923	Reticulocytosis	HP:0040281	ORPHA:71275
6006	RHCE	HP:0004446	Stomatocytosis	-	OMIM:617970
6006	RHCE	HP:0004446	Stomatocytosis	HP:0040282	ORPHA:71275
6006	RHCE	HP:0004444	Spherocytosis	HP:0040282	ORPHA:71275
6006	RHCE	HP:0000952	Jaundice	HP:0040283	ORPHA:71275
6006	RHCE	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:71275
6006	RHCE	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:71275
6006	RHCE	HP:0005268	Miscarriage	HP:0040283	ORPHA:71275
6006	RHCE	HP:0002904	Hyperbilirubinemia	-	OMIM:617970
6006	RHCE	HP:0002904	Hyperbilirubinemia	HP:0040282	ORPHA:71275
6006	RHCE	HP:0001649	Tachycardia	HP:0040283	ORPHA:71275
6006	RHCE	HP:0012418	Hypoxemia	HP:0040283	ORPHA:71275
6006	RHCE	HP:0011273	Anisocytosis	-	OMIM:617970
6006	RHCE	HP:0011273	Anisocytosis	HP:0040283	ORPHA:71275
6006	RHCE	HP:0001878	Hemolytic anemia	1/1	OMIM:617970
6006	RHCE	HP:0001878	Hemolytic anemia	HP:0040281	ORPHA:71275
6007	RHD	HP:0032231	Hypochromia	HP:0040282	ORPHA:71275
6007	RHD	HP:0032366	Positive direct antiglobulin test	HP:0040281	ORPHA:71275
6007	RHD	HP:0001343	Kernicterus	-	OMIM:619462
6007	RHD	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:71275
6007	RHD	HP:0002789	Tachypnea	HP:0040283	ORPHA:71275
6007	RHD	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:71275
6007	RHD	HP:0002240	Hepatomegaly	-	OMIM:619462
6007	RHD	HP:0020181	Reduced haptoglobin level	HP:0040281	ORPHA:71275
6007	RHD	HP:0005502	Increased red cell osmotic fragility	HP:0040281	ORPHA:71275
6007	RHD	HP:0001972	Macrocytic anemia	HP:0040284	ORPHA:71275
6007	RHD	HP:0001923	Reticulocytosis	HP:0040281	ORPHA:71275
6007	RHD	HP:0004446	Stomatocytosis	HP:0040282	ORPHA:71275
6007	RHD	HP:0004444	Spherocytosis	HP:0040282	ORPHA:71275
6007	RHD	HP:0000952	Jaundice	HP:0040283	ORPHA:71275
6007	RHD	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:71275
6007	RHD	HP:0001561	Polyhydramnios	-	OMIM:619462
6007	RHD	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:71275
6007	RHD	HP:0025671	Fetal pericardial effusion	-	OMIM:619462
6007	RHD	HP:0025676	Fetal pleural effusion	-	OMIM:619462
6007	RHD	HP:0005268	Miscarriage	HP:0040283	ORPHA:71275
6007	RHD	HP:0002904	Hyperbilirubinemia	HP:0040282	ORPHA:71275
6007	RHD	HP:0001649	Tachycardia	HP:0040283	ORPHA:71275
6007	RHD	HP:0001791	Fetal ascites	-	OMIM:619462
6007	RHD	HP:0001789	Hydrops fetalis	-	OMIM:619462
6007	RHD	HP:0012418	Hypoxemia	HP:0040283	ORPHA:71275
6007	RHD	HP:0001744	Splenomegaly	-	OMIM:619462
6007	RHD	HP:0011273	Anisocytosis	HP:0040283	ORPHA:71275
6007	RHD	HP:0001878	Hemolytic anemia	HP:0040281	ORPHA:71275
6010	RHO	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
6010	RHO	HP:0001142	Lenticonus	HP:0040283	ORPHA:52427
6010	RHO	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
6010	RHO	HP:0001105	Retinal atrophy	2/2	OMIM:613731
6010	RHO	HP:0001105	Retinal atrophy	HP:0040283	ORPHA:52427
6010	RHO	HP:0001123	Visual field defect	2/2	OMIM:613731
6010	RHO	HP:0001123	Visual field defect	-	OMIM:610445
6010	RHO	HP:0007401	Macular atrophy	HP:0040283	ORPHA:52427
6010	RHO	HP:0012045	Retinal flecks	-	OMIM:136880
6010	RHO	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
6010	RHO	HP:0000007	Autosomal recessive inheritance	-	OMIM:136880
6010	RHO	HP:0000007	Autosomal recessive inheritance	-	OMIM:613731
6010	RHO	HP:0000006	Autosomal dominant inheritance	-	OMIM:610445
6010	RHO	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
6010	RHO	HP:0000006	Autosomal dominant inheritance	-	OMIM:136880
6010	RHO	HP:0000006	Autosomal dominant inheritance	-	OMIM:613731
6010	RHO	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
6010	RHO	HP:0007675	Progressive night blindness	HP:0040282	ORPHA:52427
6010	RHO	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
6010	RHO	HP:0007663	Reduced visual acuity	2/2	OMIM:613731
6010	RHO	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
6010	RHO	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:215
6010	RHO	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
6010	RHO	HP:0007642	Congenital stationary night blindness	1/1	OMIM:610445
6010	RHO	HP:0008323	Abnormal light- and dark-adapted electroretinogram	HP:0040281	ORPHA:52427
6010	RHO	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:52427
6010	RHO	HP:0003621	Juvenile onset	8/19	OMIM:180100
6010	RHO	HP:0030506	Yellow/white lesions of the retina	HP:0040281	ORPHA:52427
6010	RHO	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
6010	RHO	HP:0000639	Nystagmus	HP:0040282	ORPHA:215
6010	RHO	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
6010	RHO	HP:0000618	Blindness	HP:0040281	ORPHA:791
6010	RHO	HP:0000618	Blindness	-	OMIM:613731
6010	RHO	HP:0000613	Photophobia	HP:0040282	ORPHA:52427
6010	RHO	HP:0000613	Photophobia	HP:0040281	ORPHA:791
6010	RHO	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
6010	RHO	HP:0000603	Central scotoma	HP:0040282	ORPHA:52427
6010	RHO	HP:0030469	Abnormal dark-adapted electroretinogram	HP:0040281	ORPHA:215
6010	RHO	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
6010	RHO	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	HP:0040283	ORPHA:215
6010	RHO	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
6010	RHO	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
6010	RHO	HP:0000662	Nyctalopia	2/2	OMIM:613731
6010	RHO	HP:0000662	Nyctalopia	26/28	OMIM:180100
6010	RHO	HP:0000662	Nyctalopia	HP:0040281	ORPHA:52427
6010	RHO	HP:0000662	Nyctalopia	HP:0040281	ORPHA:215
6010	RHO	HP:0000662	Nyctalopia	-	OMIM:136880
6010	RHO	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	-	OMIM:610445
6010	RHO	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
6010	RHO	HP:0030639	Congenital stationary night blindness with abnormal fundus	HP:0040282	ORPHA:215
6010	RHO	HP:0030638	Congenital stationary night blindness with normal fundus	HP:0040282	ORPHA:215
6010	RHO	HP:0030642	Fundus albipunctatus	-	OMIM:136880
6010	RHO	HP:0011463	Childhood onset	3/19	OMIM:180100
6010	RHO	HP:0011463	Childhood onset	1/1	OMIM:610445
6010	RHO	HP:0011463	Childhood onset	2/2	OMIM:613731
6010	RHO	HP:0011462	Young adult onset	8/19	OMIM:180100
6010	RHO	HP:0030786	Photopsia	HP:0040283	ORPHA:791
6010	RHO	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
6010	RHO	HP:0011505	Cystoid macular edema	HP:0040283	ORPHA:52427
6010	RHO	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
6010	RHO	HP:0030825	Absent foveal reflex	HP:0040281	ORPHA:52427
6010	RHO	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
6010	RHO	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
6010	RHO	HP:0007703	Abnormality of retinal pigmentation	HP:0040284	ORPHA:215
6010	RHO	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
6010	RHO	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
6010	RHO	HP:0007737	Bone spicule pigmentation of the retina	2/2	OMIM:613731
6010	RHO	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
6010	RHO	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:610445
6010	RHO	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
6010	RHO	HP:0007843	Attenuation of retinal blood vessels	2/2	OMIM:613731
6010	RHO	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
6010	RHO	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:52427
6010	RHO	HP:0007814	Retinal pigment epithelial mottling	HP:0040282	ORPHA:52427
6010	RHO	HP:0031605	Abnormality of fundus pigmentation	HP:0040283	ORPHA:52427
6010	RHO	HP:0030329	Retinal thinning	HP:0040284	ORPHA:215
6010	RHO	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
6010	RHO	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:52427
6010	RHO	HP:0007984	Electronegative electroretinogram	HP:0040283	ORPHA:215
6010	RHO	HP:0007987	Progressive visual field defects	HP:0040282	ORPHA:52427
6010	RHO	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
6010	RHO	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
6010	RHO	HP:0000486	Strabismus	HP:0040282	ORPHA:215
6010	RHO	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
6010	RHO	HP:0031705	Compensatory head posture	HP:0040283	ORPHA:215
6010	RHO	HP:0000518	Cataract	0/2	OMIM:613731
6010	RHO	HP:0000510	Rod-cone dystrophy	2/2	OMIM:613731
6010	RHO	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
6010	RHO	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
6010	RHO	HP:0000512	Abnormal electroretinogram	2/2	OMIM:613731
6010	RHO	HP:0000529	Progressive visual loss	HP:0040281	ORPHA:52427
6010	RHO	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
6010	RHO	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
6010	RHO	HP:0000580	Pigmentary retinopathy	-	OMIM:613731
6010	RHO	HP:0000580	Pigmentary retinopathy	HP:0040284	ORPHA:52427
6010	RHO	HP:0000575	Scotoma	5/18	OMIM:180100
6010	RHO	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
6010	RHO	HP:0000540	Hypermetropia	HP:0040283	ORPHA:215
6010	RHO	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
6010	RHO	HP:0000551	Color vision defect	HP:0040284	ORPHA:215
6010	RHO	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
6010	RHO	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
6010	RHO	HP:0000543	Optic disc pallor	1/1	OMIM:180100
6010	RHO	HP:0000545	Myopia	-	OMIM:180100
6010	RHO	HP:0000545	Myopia	HP:0040281	ORPHA:215
6011	GRK1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
6011	GRK1	HP:0001123	Visual field defect	-	ORPHA:75382
6011	GRK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613411
6011	GRK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
6011	GRK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
6011	GRK1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
6011	GRK1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
6011	GRK1	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:215
6011	GRK1	HP:0007641	Dyschromatopsia	-	ORPHA:75382
6011	GRK1	HP:0007642	Congenital stationary night blindness	-	OMIM:613411
6011	GRK1	HP:0007642	Congenital stationary night blindness	HP:0040281	ORPHA:75382
6011	GRK1	HP:0003621	Juvenile onset	8/19	OMIM:180100
6011	GRK1	HP:0000639	Nystagmus	HP:0040282	ORPHA:215
6011	GRK1	HP:0000639	Nystagmus	HP:0040284	ORPHA:75382
6011	GRK1	HP:0000651	Diplopia	HP:0040284	ORPHA:75382
6011	GRK1	HP:0000608	Macular degeneration	HP:0040283	ORPHA:75382
6011	GRK1	HP:0030469	Abnormal dark-adapted electroretinogram	HP:0040281	ORPHA:215
6011	GRK1	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	HP:0040283	ORPHA:215
6011	GRK1	HP:0000662	Nyctalopia	26/28	OMIM:180100
6011	GRK1	HP:0000662	Nyctalopia	HP:0040281	ORPHA:215
6011	GRK1	HP:0030639	Congenital stationary night blindness with abnormal fundus	HP:0040282	ORPHA:215
6011	GRK1	HP:0030638	Congenital stationary night blindness with normal fundus	HP:0040282	ORPHA:215
6011	GRK1	HP:0011463	Childhood onset	3/19	OMIM:180100
6011	GRK1	HP:0011462	Young adult onset	8/19	OMIM:180100
6011	GRK1	HP:0030824	Mizuo phenomenon	-	OMIM:613411
6011	GRK1	HP:0030824	Mizuo phenomenon	HP:0040281	ORPHA:75382
6011	GRK1	HP:0007703	Abnormality of retinal pigmentation	HP:0040284	ORPHA:215
6011	GRK1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
6011	GRK1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
6011	GRK1	HP:0030329	Retinal thinning	HP:0040284	ORPHA:215
6011	GRK1	HP:0007984	Electronegative electroretinogram	HP:0040281	ORPHA:75382
6011	GRK1	HP:0007984	Electronegative electroretinogram	HP:0040283	ORPHA:215
6011	GRK1	HP:0000486	Strabismus	HP:0040282	ORPHA:215
6011	GRK1	HP:0000486	Strabismus	HP:0040284	ORPHA:75382
6011	GRK1	HP:0031705	Compensatory head posture	HP:0040283	ORPHA:215
6011	GRK1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
6011	GRK1	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:75382
6011	GRK1	HP:0000505	Visual impairment	HP:0040284	ORPHA:75382
6011	GRK1	HP:0000575	Scotoma	5/18	OMIM:180100
6011	GRK1	HP:0000540	Hypermetropia	HP:0040283	ORPHA:215
6011	GRK1	HP:0000539	Abnormality of refraction	HP:0040283	ORPHA:75382
6011	GRK1	HP:0000551	Color vision defect	HP:0040284	ORPHA:215
6011	GRK1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
6011	GRK1	HP:0000545	Myopia	-	OMIM:180100
6011	GRK1	HP:0000545	Myopia	HP:0040281	ORPHA:215
6011	GRK1	HP:0000545	Myopia	HP:0040283	ORPHA:75382
6016	RIT1	HP:0001156	Brachydactyly	HP:0040283	ORPHA:648
6016	RIT1	HP:0010946	Dilatation of the renal pelvis	HP:0040283	ORPHA:648
6016	RIT1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6016	RIT1	HP:0001293	Cranial nerve compression	-	OMIM:131300
6016	RIT1	HP:0001252	Hypotonia	HP:0040282	ORPHA:648
6016	RIT1	HP:0001252	Hypotonia	2/7	OMIM:615777
6016	RIT1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:648
6016	RIT1	HP:0001249	Intellectual disability	4/18	OMIM:615355
6016	RIT1	HP:0001249	Intellectual disability	5/7	OMIM:615777
6016	RIT1	HP:0001260	Dysarthria	HP:0040281	ORPHA:648
6016	RIT1	HP:0001263	Global developmental delay	-	OMIM:615777
6016	RIT1	HP:0002515	Waddling gait	54/102	OMIM:131300
6016	RIT1	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:648
6016	RIT1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:648
6016	RIT1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:648
6016	RIT1	HP:0001382	Joint hypermobility	-	OMIM:615777
6016	RIT1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6016	RIT1	HP:0000028	Cryptorchidism	10/15	OMIM:615355
6016	RIT1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:648
6016	RIT1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6016	RIT1	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:648
6016	RIT1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:648
6016	RIT1	HP:0007517	Palmoplantar cutis laxa	10/19	OMIM:615355
6016	RIT1	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:648
6016	RIT1	HP:0001328	Specific learning disability	HP:0040283	ORPHA:648
6016	RIT1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6016	RIT1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:648
6016	RIT1	HP:0001324	Muscle weakness	40/96	OMIM:131300
6016	RIT1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6016	RIT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6016	RIT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
6016	RIT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6016	RIT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615355
6016	RIT1	HP:0002650	Scoliosis	HP:0040282	ORPHA:648
6016	RIT1	HP:0002650	Scoliosis	12/14	OMIM:131300
6016	RIT1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6016	RIT1	HP:0002619	Varicose veins	-	OMIM:153400
6016	RIT1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6016	RIT1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6016	RIT1	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:648
6016	RIT1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6016	RIT1	HP:0000175	Cleft palate	5/39	OMIM:153400
6016	RIT1	HP:0000175	Cleft palate	2/7	OMIM:615777
6016	RIT1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:648
6016	RIT1	HP:0011800	Midface retrusion	HP:0040281	ORPHA:648
6016	RIT1	HP:0003388	Easy fatigability	36/76	OMIM:131300
6016	RIT1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6016	RIT1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:648
6016	RIT1	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:648
6016	RIT1	HP:0011869	Abnormal platelet function	HP:0040282	ORPHA:648
6016	RIT1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:648
6016	RIT1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
6016	RIT1	HP:0002202	Pleural effusion	1/5	OMIM:615355
6016	RIT1	HP:0002212	Curly hair	21/35	OMIM:615355
6016	RIT1	HP:0002208	Coarse hair	HP:0040282	ORPHA:648
6016	RIT1	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:648
6016	RIT1	HP:0009743	Distichiasis	42/42	OMIM:153400
6016	RIT1	HP:0011968	Feeding difficulties	2/4	OMIM:615355
6016	RIT1	HP:0003510	Severe short stature	7/7	OMIM:615777
6016	RIT1	HP:0001004	Lymphedema	HP:0040283	ORPHA:648
6016	RIT1	HP:0001004	Lymphedema	-	OMIM:153400
6016	RIT1	HP:0002315	Headache	-	OMIM:131300
6016	RIT1	HP:0004976	Knee dislocation	6/7	OMIM:615777
6016	RIT1	HP:0100658	Cellulitis	2/6	OMIM:153400
6016	RIT1	HP:0100625	Enlarged thorax	HP:0040281	ORPHA:648
6016	RIT1	HP:0009803	Short phalanx of finger	-	OMIM:615777
6016	RIT1	HP:0009763	Limb pain	63/92	OMIM:131300
6016	RIT1	HP:0003621	Juvenile onset	-	OMIM:131300
6016	RIT1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6016	RIT1	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:648
6016	RIT1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6016	RIT1	HP:0000639	Nystagmus	HP:0040283	ORPHA:648
6016	RIT1	HP:0000635	Blue irides	HP:0040282	ORPHA:648
6016	RIT1	HP:6001056	Out-toeing	-	OMIM:131300
6016	RIT1	HP:0000651	Diplopia	-	OMIM:131300
6016	RIT1	HP:0000613	Photophobia	10/49	OMIM:153400
6016	RIT1	HP:0001956	Truncal obesity	2/7	OMIM:615777
6016	RIT1	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:648
6016	RIT1	HP:0001903	Anemia	HP:0040283	OMIM:131300
6016	RIT1	HP:0010049	Short metacarpal	-	OMIM:615777
6016	RIT1	HP:0011381	Aplasia of the semicircular canal	HP:0040283	ORPHA:648
6016	RIT1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
6016	RIT1	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:648
6016	RIT1	HP:0000678	Dental crowding	-	OMIM:615777
6016	RIT1	HP:0000656	Ectropion	2/43	OMIM:153400
6016	RIT1	HP:0000670	Carious teeth	-	OMIM:131300
6016	RIT1	HP:0011304	Broad thumb	2/7	OMIM:615777
6016	RIT1	HP:0000668	Hypodontia	-	OMIM:615777
6016	RIT1	HP:0000664	Synophrys	-	OMIM:615777
6016	RIT1	HP:0004322	Short stature	HP:0040281	ORPHA:648
6016	RIT1	HP:0004322	Short stature	8/24	OMIM:615355
6016	RIT1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:648
6016	RIT1	HP:0004396	Poor appetite	-	OMIM:131300
6016	RIT1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6016	RIT1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6016	RIT1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6016	RIT1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
6016	RIT1	HP:0003026	Short long bone	7/7	OMIM:615777
6016	RIT1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6016	RIT1	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:648
6016	RIT1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6016	RIT1	HP:0000766	Abnormal sternum morphology	5/19	OMIM:615355
6016	RIT1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6016	RIT1	HP:0000768	Pectus carinatum	HP:0040281	ORPHA:648
6016	RIT1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6016	RIT1	HP:0000750	Delayed speech and language development	-	OMIM:615777
6016	RIT1	HP:0011461	Fetal onset	7/7	OMIM:615777
6016	RIT1	HP:0000774	Narrow chest	2/7	OMIM:615777
6016	RIT1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:648
6016	RIT1	HP:0003115	Abnormal EKG	HP:0040281	ORPHA:648
6016	RIT1	HP:0004415	Pulmonary artery stenosis	HP:0040281	ORPHA:648
6016	RIT1	HP:0000926	Platyspondyly	1/7	OMIM:615777
6016	RIT1	HP:0003180	Flat acetabular roof	-	OMIM:615777
6016	RIT1	HP:0004482	Relative macrocephaly	25/33	OMIM:615355
6016	RIT1	HP:0004482	Relative macrocephaly	-	OMIM:615777
6016	RIT1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6016	RIT1	HP:0012804	Corneal ulceration	-	OMIM:153400
6016	RIT1	HP:0000823	Delayed puberty	-	OMIM:131300
6016	RIT1	HP:0000894	Short clavicles	-	OMIM:615777
6016	RIT1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6016	RIT1	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:648
6016	RIT1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:648
6016	RIT1	HP:0010310	Chylothorax	1/6	OMIM:153400
6016	RIT1	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:648
6016	RIT1	HP:0000974	Hyperextensible skin	7/22	OMIM:615355
6016	RIT1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6016	RIT1	HP:0000953	Hyperpigmentation of the skin	9/21	OMIM:615355
6016	RIT1	HP:0000964	Eczematoid dermatitis	1/5	OMIM:615355
6016	RIT1	HP:0000962	Hyperkeratosis	1/5	OMIM:615355
6016	RIT1	HP:0000938	Osteopenia	HP:0040283	ORPHA:648
6016	RIT1	HP:0011675	Arrhythmia	-	OMIM:153400
6016	RIT1	HP:0011675	Arrhythmia	HP:0040282	ORPHA:648
6016	RIT1	HP:0000286	Epicanthus	4/6	OMIM:615355
6016	RIT1	HP:0000286	Epicanthus	1/7	OMIM:615777
6016	RIT1	HP:0000280	Coarse facial features	2/7	OMIM:615777
6016	RIT1	HP:0002827	Hip dislocation	3/7	OMIM:615777
6016	RIT1	HP:0002808	Kyphosis	2/5	OMIM:153400
6016	RIT1	HP:0000252	Microcephaly	-	OMIM:615777
6016	RIT1	HP:0012209	Juvenile myelomonocytic leukemia	HP:0040283	ORPHA:648
6016	RIT1	HP:0000218	High palate	HP:0040281	ORPHA:648
6016	RIT1	HP:0001561	Polyhydramnios	2/5	OMIM:615355
6016	RIT1	HP:0002857	Genu valgum	-	OMIM:131300
6016	RIT1	HP:0001533	Slender build	-	OMIM:131300
6016	RIT1	HP:0000204	Cleft upper lip	-	OMIM:153400
6016	RIT1	HP:0001508	Failure to thrive	2/4	OMIM:615355
6016	RIT1	HP:0001520	Large for gestational age	3/5	OMIM:615355
6016	RIT1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6016	RIT1	HP:0007807	Optic nerve compression	-	OMIM:131300
6016	RIT1	HP:0012368	Flat face	7/7	OMIM:615777
6016	RIT1	HP:0000391	Thickened helices	HP:0040281	ORPHA:648
6016	RIT1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6016	RIT1	HP:0000365	Hearing impairment	10/67	OMIM:131300
6016	RIT1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:648
6016	RIT1	HP:0000369	Low-set ears	4/5	OMIM:615355
6016	RIT1	HP:0000343	Long philtrum	1/7	OMIM:615777
6016	RIT1	HP:0011001	Increased bone mineral density	-	OMIM:131300
6016	RIT1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:648
6016	RIT1	HP:0000348	High forehead	HP:0040281	ORPHA:648
6016	RIT1	HP:0000347	Micrognathia	2/5	OMIM:153400
6016	RIT1	HP:0000347	Micrognathia	HP:0040281	ORPHA:648
6016	RIT1	HP:0000316	Hypertelorism	5/6	OMIM:615355
6016	RIT1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:648
6016	RIT1	HP:0001643	Patent ductus arteriosus	4/28	OMIM:615355
6016	RIT1	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:648
6016	RIT1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
6016	RIT1	HP:0000311	Round face	2/7	OMIM:615777
6016	RIT1	HP:0001642	Pulmonic stenosis	3/6	OMIM:615355
6016	RIT1	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:648
6016	RIT1	HP:0001653	Mitral regurgitation	2/6	OMIM:615355
6016	RIT1	HP:0000325	Triangular face	HP:0040281	ORPHA:648
6016	RIT1	HP:0001629	Ventricular septal defect	10/16	OMIM:615355
6016	RIT1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
6016	RIT1	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:648
6016	RIT1	HP:0002970	Genu varum	-	OMIM:615777
6016	RIT1	HP:0001639	Hypertrophic cardiomyopathy	6/6	OMIM:615355
6016	RIT1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:648
6016	RIT1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
6016	RIT1	HP:0001631	Atrial septal defect	11/16	OMIM:615355
6016	RIT1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:648
6016	RIT1	HP:0000303	Mandibular prognathia	-	OMIM:131300
6016	RIT1	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:648
6016	RIT1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:648
6016	RIT1	HP:0001712	Left ventricular hypertrophy	14/23	OMIM:615355
6016	RIT1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6016	RIT1	HP:0000486	Strabismus	HP:0040282	ORPHA:648
6016	RIT1	HP:0000476	Cystic hygroma	HP:0040281	ORPHA:648
6016	RIT1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
6016	RIT1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
6016	RIT1	HP:0000494	Downslanted palpebral fissures	4/6	OMIM:615355
6016	RIT1	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:648
6016	RIT1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
6016	RIT1	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:648
6016	RIT1	HP:0000470	Short neck	2/4	OMIM:615355
6016	RIT1	HP:0000470	Short neck	1/7	OMIM:615777
6016	RIT1	HP:0000465	Webbed neck	17/25	OMIM:615355
6016	RIT1	HP:0000465	Webbed neck	HP:0040281	ORPHA:648
6016	RIT1	HP:0000465	Webbed neck	6/43	OMIM:153400
6016	RIT1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6016	RIT1	HP:0001763	Pes planus	1/7	OMIM:615777
6016	RIT1	HP:0001743	Abnormality of the spleen	HP:0040282	ORPHA:648
6016	RIT1	HP:0001840	Metatarsus adductus	-	OMIM:615777
6016	RIT1	HP:0000520	Proptosis	2/4	OMIM:131300
6016	RIT1	HP:0000520	Proptosis	7/7	OMIM:615777
6016	RIT1	HP:0000520	Proptosis	HP:0040281	ORPHA:648
6016	RIT1	HP:0000509	Conjunctivitis	-	OMIM:153400
6016	RIT1	HP:0000508	Ptosis	2/39	OMIM:153400
6016	RIT1	HP:0000508	Ptosis	3/6	OMIM:615355
6016	RIT1	HP:0000508	Ptosis	HP:0040281	ORPHA:648
6016	RIT1	HP:0012569	Delayed menarche	HP:0040283	ORPHA:648
6016	RIT1	HP:0000592	Blue sclerae	2/7	OMIM:615777
6016	RIT1	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:648
6016	RIT1	HP:0000568	Microphthalmia	1/6	OMIM:153400
6016	RIT1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6016	RIT1	HP:0012514	Lower limb pain	4/4	OMIM:131300
6017	RLBP1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
6017	RLBP1	HP:0001129	Large central visual field defect	HP:0040283	ORPHA:85128
6017	RLBP1	HP:0001142	Lenticonus	HP:0040283	ORPHA:52427
6017	RLBP1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
6017	RLBP1	HP:0001105	Retinal atrophy	HP:0040283	ORPHA:52427
6017	RLBP1	HP:0001123	Visual field defect	HP:0040281	ORPHA:85128
6017	RLBP1	HP:0007401	Macular atrophy	HP:0040283	ORPHA:52427
6017	RLBP1	HP:0012045	Retinal flecks	-	OMIM:136880
6017	RLBP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
6017	RLBP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:136880
6017	RLBP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:607476
6017	RLBP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:607475
6017	RLBP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
6017	RLBP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:136880
6017	RLBP1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
6017	RLBP1	HP:0007675	Progressive night blindness	HP:0040282	ORPHA:52427
6017	RLBP1	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
6017	RLBP1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
6017	RLBP1	HP:0007663	Reduced visual acuity	26/26	OMIM:607476
6017	RLBP1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
6017	RLBP1	HP:0003593	Infantile onset	26/26	OMIM:607476
6017	RLBP1	HP:0008323	Abnormal light- and dark-adapted electroretinogram	HP:0040281	ORPHA:52427
6017	RLBP1	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:52427
6017	RLBP1	HP:0032118	Retinitis	HP:0040282	ORPHA:85128
6017	RLBP1	HP:0003621	Juvenile onset	8/19	OMIM:180100
6017	RLBP1	HP:0030506	Yellow/white lesions of the retina	HP:0040281	ORPHA:52427
6017	RLBP1	HP:0030529	Ring scotoma	8/26	OMIM:607476
6017	RLBP1	HP:0030529	Ring scotoma	HP:0040283	ORPHA:85128
6017	RLBP1	HP:0030528	Paracentral scotoma	HP:0040283	ORPHA:85128
6017	RLBP1	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
6017	RLBP1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
6017	RLBP1	HP:0000618	Blindness	HP:0040281	ORPHA:791
6017	RLBP1	HP:0000613	Photophobia	HP:0040282	ORPHA:52427
6017	RLBP1	HP:0000613	Photophobia	HP:0040281	ORPHA:791
6017	RLBP1	HP:0000610	Abnormal choroid morphology	HP:0040283	ORPHA:85128
6017	RLBP1	HP:0000608	Macular degeneration	HP:0040282	ORPHA:85128
6017	RLBP1	HP:0000608	Macular degeneration	-	OMIM:607475
6017	RLBP1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
6017	RLBP1	HP:0000603	Central scotoma	HP:0040282	ORPHA:52427
6017	RLBP1	HP:0000603	Central scotoma	HP:0040283	ORPHA:85128
6017	RLBP1	HP:0000603	Central scotoma	6/26	OMIM:607476
6017	RLBP1	HP:0030469	Abnormal dark-adapted electroretinogram	HP:0040281	ORPHA:85128
6017	RLBP1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
6017	RLBP1	HP:0030474	Undetectable dark-adapted electroretinogram	HP:0040281	ORPHA:85128
6017	RLBP1	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
6017	RLBP1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
6017	RLBP1	HP:0000662	Nyctalopia	HP:0040283	ORPHA:85128
6017	RLBP1	HP:0000662	Nyctalopia	26/28	OMIM:180100
6017	RLBP1	HP:0000662	Nyctalopia	HP:0040281	ORPHA:52427
6017	RLBP1	HP:0000662	Nyctalopia	26/26	OMIM:607476
6017	RLBP1	HP:0000662	Nyctalopia	-	OMIM:607475
6017	RLBP1	HP:0000662	Nyctalopia	-	OMIM:136880
6017	RLBP1	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
6017	RLBP1	HP:0030618	Increased OCT-measured foveal thickness	HP:0040281	ORPHA:85128
6017	RLBP1	HP:0030642	Fundus albipunctatus	-	OMIM:136880
6017	RLBP1	HP:0011463	Childhood onset	3/19	OMIM:180100
6017	RLBP1	HP:0011462	Young adult onset	8/19	OMIM:180100
6017	RLBP1	HP:0030786	Photopsia	HP:0040283	ORPHA:791
6017	RLBP1	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
6017	RLBP1	HP:0011505	Cystoid macular edema	HP:0040283	ORPHA:52427
6017	RLBP1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
6017	RLBP1	HP:0030825	Absent foveal reflex	HP:0040281	ORPHA:52427
6017	RLBP1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
6017	RLBP1	HP:0007722	Retinal pigment epithelial atrophy	HP:0040283	ORPHA:85128
6017	RLBP1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
6017	RLBP1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
6017	RLBP1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
6017	RLBP1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
6017	RLBP1	HP:0007737	Bone spicule pigmentation of the retina	-	ORPHA:85128
6017	RLBP1	HP:0007737	Bone spicule pigmentation of the retina	0/26	OMIM:607476
6017	RLBP1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
6017	RLBP1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
6017	RLBP1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:52427
6017	RLBP1	HP:0007814	Retinal pigment epithelial mottling	HP:0040282	ORPHA:52427
6017	RLBP1	HP:0007814	Retinal pigment epithelial mottling	HP:0040282	ORPHA:85128
6017	RLBP1	HP:0031605	Abnormality of fundus pigmentation	HP:0040283	ORPHA:52427
6017	RLBP1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
6017	RLBP1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:52427
6017	RLBP1	HP:0007984	Electronegative electroretinogram	HP:0040283	ORPHA:85128
6017	RLBP1	HP:0007987	Progressive visual field defects	HP:0040282	ORPHA:52427
6017	RLBP1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
6017	RLBP1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
6017	RLBP1	HP:0000493	Abnormal foveal morphology	HP:0040282	ORPHA:85128
6017	RLBP1	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
6017	RLBP1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
6017	RLBP1	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:85128
6017	RLBP1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
6017	RLBP1	HP:0000512	Abnormal electroretinogram	-	OMIM:607475
6017	RLBP1	HP:0000529	Progressive visual loss	HP:0040281	ORPHA:52427
6017	RLBP1	HP:0000529	Progressive visual loss	HP:0040281	ORPHA:85128
6017	RLBP1	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
6017	RLBP1	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
6017	RLBP1	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:85128
6017	RLBP1	HP:0000580	Pigmentary retinopathy	HP:0040284	ORPHA:52427
6017	RLBP1	HP:0000575	Scotoma	5/18	OMIM:180100
6017	RLBP1	HP:0000575	Scotoma	23/24	OMIM:607476
6017	RLBP1	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
6017	RLBP1	HP:0000556	Retinal dystrophy	-	OMIM:607476
6017	RLBP1	HP:0000556	Retinal dystrophy	-	OMIM:607475
6017	RLBP1	HP:0000539	Abnormality of refraction	HP:0040282	ORPHA:85128
6017	RLBP1	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
6017	RLBP1	HP:0000551	Color vision defect	HP:0040281	ORPHA:85128
6017	RLBP1	HP:0000551	Color vision defect	20/20	OMIM:607476
6017	RLBP1	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
6017	RLBP1	HP:0000546	Retinal degeneration	HP:0040282	ORPHA:85128
6017	RLBP1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
6017	RLBP1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
6017	RLBP1	HP:0000545	Myopia	-	OMIM:180100
6023	RMRP	HP:0001156	Brachydactyly	-	OMIM:607095
6023	RMRP	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6023	RMRP	HP:0001293	Cranial nerve compression	-	OMIM:131300
6023	RMRP	HP:0100806	Sepsis	HP:0040283	ORPHA:39041
6023	RMRP	HP:0001252	Hypotonia	1/2	OMIM:607095
6023	RMRP	HP:0001252	Hypotonia	HP:0040281	ORPHA:175
6023	RMRP	HP:0001252	Hypotonia	2/7	OMIM:615777
6023	RMRP	HP:0001249	Intellectual disability	1/2	OMIM:607095
6023	RMRP	HP:0001249	Intellectual disability	5/7	OMIM:615777
6023	RMRP	HP:0001263	Global developmental delay	1/2	OMIM:607095
6023	RMRP	HP:0001263	Global developmental delay	-	OMIM:615777
6023	RMRP	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:39041
6023	RMRP	HP:0031087	Absent pubertal growth spurt	-	OMIM:250250
6023	RMRP	HP:0006028	Metaphyseal cupping of metacarpals	-	OMIM:250460
6023	RMRP	HP:0001216	Delayed ossification of carpal bones	1/1	OMIM:607095
6023	RMRP	HP:0002515	Waddling gait	54/102	OMIM:131300
6023	RMRP	HP:0001377	Limited elbow extension	79/86	OMIM:250250
6023	RMRP	HP:0001377	Limited elbow extension	HP:0040281	ORPHA:175
6023	RMRP	HP:0001377	Limited elbow extension	1/2	OMIM:607095
6023	RMRP	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:175
6023	RMRP	HP:0001382	Joint hypermobility	91/95	OMIM:250250
6023	RMRP	HP:0001382	Joint hypermobility	1/2	OMIM:250460
6023	RMRP	HP:0001382	Joint hypermobility	1/2	OMIM:607095
6023	RMRP	HP:0001382	Joint hypermobility	-	OMIM:615777
6023	RMRP	HP:0002680	J-shaped sella turcica	1/2	OMIM:607095
6023	RMRP	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6023	RMRP	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6023	RMRP	HP:0007549	Desquamation of skin soon after birth	HP:0040282	ORPHA:39041
6023	RMRP	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:175
6023	RMRP	HP:0007464	Sparse facial hair	-	OMIM:250250
6023	RMRP	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6023	RMRP	HP:0001324	Muscle weakness	40/96	OMIM:131300
6023	RMRP	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6023	RMRP	HP:0002671	Basal cell carcinoma	3/103	OMIM:250250
6023	RMRP	HP:0000007	Autosomal recessive inheritance	-	OMIM:250250
6023	RMRP	HP:0000007	Autosomal recessive inheritance	-	OMIM:250460
6023	RMRP	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6023	RMRP	HP:0000007	Autosomal recessive inheritance	-	OMIM:607095
6023	RMRP	HP:0002665	Lymphoma	HP:0040283	OMIM:250250
6023	RMRP	HP:0002665	Lymphoma	HP:0040283	ORPHA:39041
6023	RMRP	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6023	RMRP	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:175
6023	RMRP	HP:0002650	Scoliosis	HP:0040281	ORPHA:175
6023	RMRP	HP:0002650	Scoliosis	18/86	OMIM:250250
6023	RMRP	HP:0002650	Scoliosis	12/14	OMIM:131300
6023	RMRP	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:175
6023	RMRP	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6023	RMRP	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:250250
6023	RMRP	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040283	ORPHA:175
6023	RMRP	HP:0002644	Abnormal pelvic girdle bone morphology	0/2	OMIM:250460
6023	RMRP	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6023	RMRP	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6023	RMRP	HP:0008921	Neonatal short-limb short stature	-	OMIM:250250
6023	RMRP	HP:0008905	Rhizomelia	HP:0040281	ORPHA:175
6023	RMRP	HP:0008905	Rhizomelia	2/2	OMIM:607095
6023	RMRP	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6023	RMRP	HP:0000158	Macroglossia	2/2	OMIM:607095
6023	RMRP	HP:0000175	Cleft palate	2/7	OMIM:615777
6023	RMRP	HP:0000174	Abnormal palate morphology	HP:0040282	ORPHA:175
6023	RMRP	HP:0005019	Diaphyseal undertubulation	HP:0040281	ORPHA:175
6023	RMRP	HP:0002777	Tracheal stenosis	HP:0040281	ORPHA:175
6023	RMRP	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:39041
6023	RMRP	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:175
6023	RMRP	HP:0002719	Recurrent infections	58/103	OMIM:250250
6023	RMRP	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:39041
6023	RMRP	HP:0002721	Immunodeficiency	0/2	OMIM:250460
6023	RMRP	HP:0002025	Anal stenosis	1/108	OMIM:250250
6023	RMRP	HP:0002024	Malabsorption	HP:0040282	ORPHA:175
6023	RMRP	HP:0002024	Malabsorption	-	OMIM:250250
6023	RMRP	HP:0002019	Constipation	5/108	OMIM:250250
6023	RMRP	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	-	OMIM:250250
6023	RMRP	HP:0002032	Esophageal atresia	-	OMIM:250250
6023	RMRP	HP:0002028	Chronic diarrhea	HP:0040281	ORPHA:39041
6023	RMRP	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:175
6023	RMRP	HP:0003311	Hypoplasia of the odontoid process	HP:0040283	OMIM:250250
6023	RMRP	HP:0003307	Hyperlordosis	HP:0040281	ORPHA:175
6023	RMRP	HP:0003308	Cervical subluxation	-	OMIM:607095
6023	RMRP	HP:0004625	Biconvex vertebral bodies	HP:0040281	ORPHA:175
6023	RMRP	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:175
6023	RMRP	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:175
6023	RMRP	HP:0002090	Pneumonia	HP:0040282	ORPHA:39041
6023	RMRP	HP:0003388	Easy fatigability	36/76	OMIM:131300
6023	RMRP	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6023	RMRP	HP:0100569	Abnormally ossified vertebrae	HP:0040281	ORPHA:175
6023	RMRP	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:175
6023	RMRP	HP:0008155	Mucopolysacchariduria	HP:0040282	ORPHA:175
6023	RMRP	HP:0003414	Atlantoaxial dislocation	1/2	OMIM:607095
6023	RMRP	HP:0011849	Abnormal bone ossification	HP:0040281	ORPHA:175
6023	RMRP	HP:0010585	Small epiphyses	-	OMIM:607095
6023	RMRP	HP:0003593	Infantile onset	9/42	OMIM:250250
6023	RMRP	HP:0003577	Congenital onset	32/42	OMIM:250250
6023	RMRP	HP:0003577	Congenital onset	1/2	OMIM:607095
6023	RMRP	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:175
6023	RMRP	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:39041
6023	RMRP	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:175
6023	RMRP	HP:0002251	Aganglionic megacolon	8/108	OMIM:250250
6023	RMRP	HP:0002213	Fine hair	-	OMIM:250250
6023	RMRP	HP:0100729	Large face	HP:0040281	ORPHA:175
6023	RMRP	HP:0002286	Fair hair	81/87	OMIM:250250
6023	RMRP	HP:0003510	Severe short stature	7/7	OMIM:615777
6023	RMRP	HP:0003510	Severe short stature	3/4	OMIM:607095
6023	RMRP	HP:0004810	Congenital hypoplastic anemia	-	OMIM:250250
6023	RMRP	HP:0002341	Cervical cord compression	1/2	OMIM:607095
6023	RMRP	HP:0002353	EEG abnormality	HP:0040281	ORPHA:175
6023	RMRP	HP:0001019	Erythroderma	HP:0040281	ORPHA:39041
6023	RMRP	HP:0002315	Headache	-	OMIM:131300
6023	RMRP	HP:0004976	Knee dislocation	6/7	OMIM:615777
6023	RMRP	HP:0100646	Thyroiditis	HP:0040283	ORPHA:39041
6023	RMRP	HP:0009832	Abnormal distal phalanx morphology of finger	HP:0040281	ORPHA:175
6023	RMRP	HP:0001072	Thickened skin	HP:0040282	ORPHA:39041
6023	RMRP	HP:0009803	Short phalanx of finger	-	OMIM:615777
6023	RMRP	HP:0200055	Small hand	HP:0040283	ORPHA:175
6023	RMRP	HP:0008499	High hypermetropia	HP:0040281	ORPHA:175
6023	RMRP	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:250250
6023	RMRP	HP:0009763	Limb pain	63/92	OMIM:131300
6023	RMRP	HP:0003621	Juvenile onset	-	OMIM:131300
6023	RMRP	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6023	RMRP	HP:0004279	Short palm	HP:0040281	ORPHA:175
6023	RMRP	HP:0004279	Short palm	2/2	OMIM:607095
6023	RMRP	HP:0004279	Short palm	-	OMIM:250250
6023	RMRP	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6023	RMRP	HP:6001056	Out-toeing	-	OMIM:131300
6023	RMRP	HP:0000651	Diplopia	-	OMIM:131300
6023	RMRP	HP:0001972	Macrocytic anemia	-	OMIM:250250
6023	RMRP	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:39041
6023	RMRP	HP:0001945	Fever	HP:0040282	ORPHA:39041
6023	RMRP	HP:0001956	Truncal obesity	2/7	OMIM:615777
6023	RMRP	HP:0001903	Anemia	HP:0040283	ORPHA:175
6023	RMRP	HP:0001903	Anemia	67/85	OMIM:250250
6023	RMRP	HP:0001903	Anemia	HP:0040283	ORPHA:39041
6023	RMRP	HP:0001903	Anemia	HP:0040283	OMIM:131300
6023	RMRP	HP:0010049	Short metacarpal	-	OMIM:615777
6023	RMRP	HP:0010049	Short metacarpal	2/2	OMIM:250460
6023	RMRP	HP:0000678	Dental crowding	-	OMIM:615777
6023	RMRP	HP:0000691	Microdontia	2/2	OMIM:607095
6023	RMRP	HP:0000653	Sparse eyelashes	-	OMIM:250250
6023	RMRP	HP:0000670	Carious teeth	-	OMIM:131300
6023	RMRP	HP:0011304	Broad thumb	2/7	OMIM:615777
6023	RMRP	HP:0000668	Hypodontia	-	OMIM:615777
6023	RMRP	HP:0000668	Hypodontia	-	OMIM:607095
6023	RMRP	HP:0001999	Abnormal facial shape	0/2	OMIM:250460
6023	RMRP	HP:0000664	Synophrys	-	OMIM:615777
6023	RMRP	HP:0004322	Short stature	2/2	OMIM:250460
6023	RMRP	HP:0004332	Abnormal lymphocyte morphology	HP:0040281	ORPHA:39041
6023	RMRP	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040283	ORPHA:175
6023	RMRP	HP:0005616	Accelerated skeletal maturation	HP:0040283	ORPHA:175
6023	RMRP	HP:0004396	Poor appetite	-	OMIM:131300
6023	RMRP	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6023	RMRP	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6023	RMRP	HP:0034198	Second trimester onset	1/2	OMIM:607095
6023	RMRP	HP:0003015	Flared metaphysis	1/1	OMIM:607095
6023	RMRP	HP:0003016	Metaphyseal widening	-	OMIM:250250
6023	RMRP	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6023	RMRP	HP:0003026	Short long bone	7/7	OMIM:615777
6023	RMRP	HP:0003026	Short long bone	-	OMIM:250460
6023	RMRP	HP:0003027	Mesomelia	HP:0040281	ORPHA:175
6023	RMRP	HP:0003025	Metaphyseal irregularity	2/2	OMIM:250460
6023	RMRP	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6023	RMRP	HP:0003021	Metaphyseal cupping	-	OMIM:250250
6023	RMRP	HP:0000772	Abnormal rib morphology	HP:0040283	ORPHA:175
6023	RMRP	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6023	RMRP	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:175
6023	RMRP	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6023	RMRP	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6023	RMRP	HP:0012722	Heart block	HP:0040283	ORPHA:175
6023	RMRP	HP:0000750	Delayed speech and language development	-	OMIM:615777
6023	RMRP	HP:0011463	Childhood onset	1/42	OMIM:250250
6023	RMRP	HP:0011463	Childhood onset	2/2	OMIM:250460
6023	RMRP	HP:0011461	Fetal onset	7/7	OMIM:615777
6023	RMRP	HP:0000774	Narrow chest	HP:0040282	ORPHA:175
6023	RMRP	HP:0000774	Narrow chest	34/84	OMIM:250250
6023	RMRP	HP:0000774	Narrow chest	2/7	OMIM:615777
6023	RMRP	HP:0004430	Severe combined immunodeficiency	HP:0040281	ORPHA:39041
6023	RMRP	HP:0000925	Abnormality of the vertebral column	0/2	OMIM:250460
6023	RMRP	HP:0000926	Platyspondyly	1/7	OMIM:615777
6023	RMRP	HP:0000926	Platyspondyly	1/2	OMIM:607095
6023	RMRP	HP:0003180	Flat acetabular roof	-	OMIM:615777
6023	RMRP	HP:0004482	Relative macrocephaly	-	OMIM:615777
6023	RMRP	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6023	RMRP	HP:0000884	Prominent sternum	28/84	OMIM:250250
6023	RMRP	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:39041
6023	RMRP	HP:0000823	Delayed puberty	-	OMIM:131300
6023	RMRP	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	2/2	OMIM:250460
6023	RMRP	HP:0000894	Short clavicles	-	OMIM:615777
6023	RMRP	HP:0005871	Metaphyseal chondrodysplasia	HP:0040281	ORPHA:175
6023	RMRP	HP:0003220	Abnormality of chromosome stability	HP:0040283	ORPHA:175
6023	RMRP	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6023	RMRP	HP:0003273	Hip contracture	1/2	OMIM:607095
6023	RMRP	HP:0003272	Abnormal hip bone morphology	HP:0040282	ORPHA:175
6023	RMRP	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:175
6023	RMRP	HP:0045075	Sparse eyebrow	-	OMIM:250250
6023	RMRP	HP:0100255	Metaphyseal dysplasia	HP:0040281	ORPHA:175
6023	RMRP	HP:0100255	Metaphyseal dysplasia	-	OMIM:250250
6023	RMRP	HP:0100255	Metaphyseal dysplasia	2/2	OMIM:250460
6023	RMRP	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040283	ORPHA:175
6023	RMRP	HP:0010301	Spinal dysraphism	HP:0040281	ORPHA:175
6023	RMRP	HP:0010306	Short thorax	HP:0040283	ORPHA:175
6023	RMRP	HP:0000989	Pruritus	HP:0040282	ORPHA:39041
6023	RMRP	HP:0000958	Dry skin	HP:0040282	ORPHA:39041
6023	RMRP	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6023	RMRP	HP:0000969	Edema	HP:0040282	ORPHA:39041
6023	RMRP	HP:0000960	Sacral dimple	HP:0040283	ORPHA:175
6023	RMRP	HP:0000946	Hypoplastic ilia	-	OMIM:607095
6023	RMRP	HP:0000944	Abnormal metaphysis morphology	HP:0040283	ORPHA:39041
6023	RMRP	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:175
6023	RMRP	HP:0000940	Abnormal diaphysis morphology	HP:0040281	ORPHA:175
6023	RMRP	HP:0008070	Sparse hair	HP:0040281	ORPHA:175
6023	RMRP	HP:0008070	Sparse hair	81/87	OMIM:250250
6023	RMRP	HP:0009381	Short finger	-	OMIM:607095
6023	RMRP	HP:0008056	Aplasia/Hypoplasia affecting the eye	HP:0040283	ORPHA:175
6023	RMRP	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:175
6023	RMRP	HP:0000286	Epicanthus	HP:0040283	ORPHA:175
6023	RMRP	HP:0000286	Epicanthus	1/7	OMIM:615777
6023	RMRP	HP:0000280	Coarse facial features	2/7	OMIM:615777
6023	RMRP	HP:0001595	Abnormal hair morphology	0/2	OMIM:250460
6023	RMRP	HP:0001596	Alopecia	HP:0040281	ORPHA:39041
6023	RMRP	HP:0002812	Coxa vara	54/86	OMIM:250250
6023	RMRP	HP:0002827	Hip dislocation	3/7	OMIM:615777
6023	RMRP	HP:0000252	Microcephaly	-	OMIM:615777
6023	RMRP	HP:0000248	Brachycephaly	HP:0040283	ORPHA:175
6023	RMRP	HP:0000248	Brachycephaly	HP:0040283	OMIM:250250
6023	RMRP	HP:0001552	Barrel-shaped chest	2/2	OMIM:607095
6023	RMRP	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:175
6023	RMRP	HP:0001555	Asymmetry of the thorax	5/84	OMIM:250250
6023	RMRP	HP:0002857	Genu valgum	-	OMIM:131300
6023	RMRP	HP:0001533	Slender build	-	OMIM:131300
6023	RMRP	HP:0031367	Metaphyseal striations	2/2	OMIM:250460
6023	RMRP	HP:0001508	Failure to thrive	HP:0040281	ORPHA:175
6023	RMRP	HP:0001508	Failure to thrive	HP:0040281	ORPHA:39041
6023	RMRP	HP:0001511	Intrauterine growth retardation	1/2	OMIM:607095
6023	RMRP	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6023	RMRP	HP:0007807	Optic nerve compression	-	OMIM:131300
6023	RMRP	HP:0012368	Flat face	7/7	OMIM:615777
6023	RMRP	HP:0006589	Flaring of lower rib cage	-	OMIM:250250
6023	RMRP	HP:0006589	Flaring of lower rib cage	HP:0040282	ORPHA:175
6023	RMRP	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6023	RMRP	HP:0002938	Lumbar hyperlordosis	2/2	OMIM:607095
6023	RMRP	HP:0002938	Lumbar hyperlordosis	72/85	OMIM:250250
6023	RMRP	HP:0002942	Thoracic kyphosis	2/2	OMIM:607095
6023	RMRP	HP:0002901	Hypocalcemia	HP:0040281	ORPHA:175
6023	RMRP	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:175
6023	RMRP	HP:0000365	Hearing impairment	10/67	OMIM:131300
6023	RMRP	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:175
6023	RMRP	HP:0001671	Abnormal cardiac septum morphology	HP:0040281	ORPHA:175
6023	RMRP	HP:0000343	Long philtrum	1/7	OMIM:615777
6023	RMRP	HP:0011001	Increased bone mineral density	-	OMIM:131300
6023	RMRP	HP:0002982	Tibial bowing	HP:0040281	ORPHA:175
6023	RMRP	HP:0001650	Aortic valve stenosis	2/2	OMIM:607095
6023	RMRP	HP:0002983	Micromelia	HP:0040281	ORPHA:175
6023	RMRP	HP:0002980	Femoral bowing	-	OMIM:250250
6023	RMRP	HP:0000316	Hypertelorism	-	OMIM:607095
6023	RMRP	HP:0000311	Round face	2/7	OMIM:615777
6023	RMRP	HP:0002987	Elbow flexion contracture	2/2	OMIM:607095
6023	RMRP	HP:0002960	Autoimmunity	HP:0040283	ORPHA:39041
6023	RMRP	HP:0001623	Breech presentation	17/81	OMIM:250250
6023	RMRP	HP:0002970	Genu varum	-	OMIM:615777
6023	RMRP	HP:0002970	Genu varum	1/2	OMIM:250460
6023	RMRP	HP:0001638	Cardiomyopathy	HP:0040281	ORPHA:175
6023	RMRP	HP:0000307	Pointed chin	1/2	OMIM:607095
6023	RMRP	HP:0000303	Mandibular prognathia	-	OMIM:131300
6023	RMRP	HP:0000303	Mandibular prognathia	1/2	OMIM:607095
6023	RMRP	HP:0005374	Cellular immunodeficiency	-	OMIM:250250
6023	RMRP	HP:0005360	Susceptibility to chickenpox	-	OMIM:250250
6023	RMRP	HP:0000400	Macrotia	HP:0040283	ORPHA:175
6023	RMRP	HP:0001732	Abnormality of the pancreas	HP:0040281	ORPHA:175
6023	RMRP	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:175
6023	RMRP	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6023	RMRP	HP:0000486	Strabismus	HP:0040281	ORPHA:175
6023	RMRP	HP:0000463	Anteverted nares	HP:0040283	ORPHA:175
6023	RMRP	HP:0000457	Depressed nasal ridge	HP:0040283	ORPHA:175
6023	RMRP	HP:0000470	Short neck	HP:0040281	ORPHA:175
6023	RMRP	HP:0000470	Short neck	-	OMIM:607095
6023	RMRP	HP:0000470	Short neck	1/7	OMIM:615777
6023	RMRP	HP:0001773	Short foot	2/2	OMIM:607095
6023	RMRP	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6023	RMRP	HP:0001763	Pes planus	1/7	OMIM:615777
6023	RMRP	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:175
6023	RMRP	HP:0001744	Splenomegaly	HP:0040282	ORPHA:39041
6023	RMRP	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:175
6023	RMRP	HP:0001840	Metatarsus adductus	-	OMIM:615777
6023	RMRP	HP:0000520	Proptosis	2/4	OMIM:131300
6023	RMRP	HP:0000520	Proptosis	7/7	OMIM:615777
6023	RMRP	HP:0000505	Visual impairment	HP:0040281	ORPHA:175
6023	RMRP	HP:0001831	Short toe	HP:0040283	ORPHA:39041
6023	RMRP	HP:0001831	Short toe	-	OMIM:607095
6023	RMRP	HP:0000592	Blue sclerae	HP:0040281	ORPHA:175
6023	RMRP	HP:0000592	Blue sclerae	2/7	OMIM:615777
6023	RMRP	HP:0011220	Prominent forehead	HP:0040282	ORPHA:175
6023	RMRP	HP:0001888	Decreased total lymphocyte count	-	OMIM:250250
6023	RMRP	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6023	RMRP	HP:0001880	Increased total eosinophil count	HP:0040282	ORPHA:39041
6023	RMRP	HP:0012514	Lower limb pain	4/4	OMIM:131300
6023	RMRP	HP:0000545	Myopia	HP:0040282	ORPHA:175
6023	RMRP	HP:0001875	Decreased total neutrophil count	HP:0040281	ORPHA:175
6023	RMRP	HP:0001875	Decreased total neutrophil count	-	OMIM:250250
6041	RNASEL	HP:0000006	Autosomal dominant inheritance	-	OMIM:601518
6041	RNASEL	HP:0012125	Prostate cancer	11/11	OMIM:601518
6041	RNASEL	HP:0003581	Adult onset	11/11	OMIM:601518
6045	RNF2	HP:0010864	Intellectual disability, severe	2/2	OMIM:619460
6045	RNF2	HP:0001250	Seizure	2/2	OMIM:619460
6045	RNF2	HP:0001252	Hypotonia	2/2	OMIM:619460
6045	RNF2	HP:0002553	Highly arched eyebrow	1/2	OMIM:619460
6045	RNF2	HP:0001347	Hyperreflexia	1/2	OMIM:619460
6045	RNF2	HP:0008872	Feeding difficulties in infancy	2/2	OMIM:619460
6045	RNF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619460
6045	RNF2	HP:0000160	Narrow mouth	1/2	OMIM:619460
6045	RNF2	HP:0000154	Wide mouth	1/2	OMIM:619460
6045	RNF2	HP:0007651	Ectropion of lower eyelids	1/2	OMIM:619460
6045	RNF2	HP:0200055	Small hand	1/2	OMIM:619460
6045	RNF2	HP:0011344	Severe global developmental delay	2/2	OMIM:619460
6045	RNF2	HP:0011461	Fetal onset	2/2	OMIM:619460
6045	RNF2	HP:0011451	Primary microcephaly	1/2	OMIM:619460
6045	RNF2	HP:0001566	Widely-spaced maxillary central incisors	1/2	OMIM:619460
6045	RNF2	HP:0001562	Oligohydramnios	1/2	OMIM:619460
6045	RNF2	HP:0001537	Umbilical hernia	1/2	OMIM:619460
6045	RNF2	HP:0001508	Failure to thrive	1/2	OMIM:619460
6045	RNF2	HP:0001511	Intrauterine growth retardation	2/2	OMIM:619460
6045	RNF2	HP:0000377	Abnormal pinna morphology	1/2	OMIM:619460
6045	RNF2	HP:0007874	Almond-shaped palpebral fissure	1/2	OMIM:619460
6045	RNF2	HP:0005180	Tricuspid regurgitation	1/2	OMIM:619460
6045	RNF2	HP:0000316	Hypertelorism	2/2	OMIM:619460
6045	RNF2	HP:0000322	Short philtrum	1/2	OMIM:619460
6045	RNF2	HP:0000403	Recurrent otitis media	1/2	OMIM:619460
6045	RNF2	HP:0005280	Depressed nasal bridge	1/2	OMIM:619460
6045	RNF2	HP:0000483	Astigmatism	1/2	OMIM:619460
6045	RNF2	HP:0000486	Strabismus	2/2	OMIM:619460
6045	RNF2	HP:0012471	Thick vermilion border	1/2	OMIM:619460
6045	RNF2	HP:0000490	Deeply set eye	1/2	OMIM:619460
6045	RNF2	HP:0000463	Anteverted nares	1/2	OMIM:619460
6045	RNF2	HP:0001773	Short foot	1/2	OMIM:619460
6045	RNF2	HP:0000445	Wide nose	1/2	OMIM:619460
6045	RNF2	HP:0000527	Long eyelashes	1/2	OMIM:619460
6045	RNF2	HP:0000577	Exotropia	2/2	OMIM:619460
6049	RNF6	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:99977
6049	RNF6	HP:0001442	Typified by somatic mosaicism	-	OMIM:133239
6049	RNF6	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:99977
6049	RNF6	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:99977
6049	RNF6	HP:0100749	Chest pain	HP:0040282	ORPHA:99977
6049	RNF6	HP:0012735	Cough	HP:0040282	ORPHA:99977
6049	RNF6	HP:0011459	Esophageal carcinoma	HP:0040281	ORPHA:99977
6049	RNF6	HP:0011459	Esophageal carcinoma	-	OMIM:133239
6049	RNF6	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:99977
6049	RNF6	HP:0001864	Clinodactyly of the 5th toe	HP:0040281	ORPHA:99977
6050	RNH1	HP:0007281	Developmental stagnation	1/2	OMIM:620461
6050	RNH1	HP:0020221	Clonic seizure	1/2	OMIM:620461
6050	RNH1	HP:0001298	Encephalopathy	8/8	OMIM:620461
6050	RNH1	HP:0001252	Hypotonia	2/2	OMIM:620461
6050	RNH1	HP:0002572	Episodic vomiting	1/2	OMIM:620461
6050	RNH1	HP:0007359	Focal-onset seizure	2/2	OMIM:620461
6050	RNH1	HP:0025313	Exophoria	1/2	OMIM:620461
6050	RNH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620461
6050	RNH1	HP:0000160	Narrow mouth	1/2	OMIM:620461
6050	RNH1	HP:0002788	Recurrent upper respiratory tract infections	1/2	OMIM:620461
6050	RNH1	HP:0002093	Respiratory insufficiency	1/2	OMIM:620461
6050	RNH1	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:620461
6050	RNH1	HP:0003593	Infantile onset	4/8	OMIM:620461
6050	RNH1	HP:0003577	Congenital onset	1/2	OMIM:620461
6050	RNH1	HP:0011968	Feeding difficulties	2/2	OMIM:620461
6050	RNH1	HP:0003621	Juvenile onset	1/8	OMIM:620461
6050	RNH1	HP:0011463	Childhood onset	3/8	OMIM:620461
6050	RNH1	HP:0002870	Obstructive sleep apnea	1/2	OMIM:620461
6050	RNH1	HP:0032988	Persistent head lag	2/2	OMIM:620461
6050	RNH1	HP:0000518	Cataract	2/2	OMIM:620461
6091	ROBO1	HP:0003774	Stage 5 chronic kidney disease	1/8	OMIM:620305
6091	ROBO1	HP:0010958	Bilateral renal agenesis	4/11	OMIM:620305
6091	ROBO1	HP:0002410	Aqueductal stenosis	1/7	OMIM:620305
6091	ROBO1	HP:0001274	Agenesis of corpus callosum	2/10	OMIM:620305
6091	ROBO1	HP:0001250	Seizure	HP:0040283	ORPHA:95496
6091	ROBO1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:95496
6091	ROBO1	HP:0001249	Intellectual disability	4/5	OMIM:620305
6091	ROBO1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:95496
6091	ROBO1	HP:0001263	Global developmental delay	4/5	OMIM:620305
6091	ROBO1	HP:0002566	Intestinal malrotation	2/3	OMIM:620305
6091	ROBO1	HP:0100842	Septo-optic dysplasia	HP:0040283	ORPHA:95496
6091	ROBO1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:95496
6091	ROBO1	HP:0031098	Decreased thyroid-stimulating hormone level	2/5	OMIM:620303
6091	ROBO1	HP:0002553	Highly arched eyebrow	1/1	OMIM:620305
6091	ROBO1	HP:0034976	Absent pituitary stalk	2/5	OMIM:620303
6091	ROBO1	HP:0034978	Interrupted pituitary stalk	3/5	OMIM:620303
6091	ROBO1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:95496
6091	ROBO1	HP:0000028	Cryptorchidism	1/1	OMIM:620305
6091	ROBO1	HP:0008897	Postnatal growth retardation	3/7	OMIM:620305
6091	ROBO1	HP:0033725	Thin corpus callosum	1/1	OMIM:620305
6091	ROBO1	HP:0001338	Partial agenesis of the corpus callosum	1/7	OMIM:620305
6091	ROBO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620305
6091	ROBO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:257400
6091	ROBO1	HP:0001335	Bimanual synkinesia	1/7	OMIM:620305
6091	ROBO1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620303
6091	ROBO1	HP:0001320	Cerebellar vermis hypoplasia	2/7	OMIM:620305
6091	ROBO1	HP:0000122	Unilateral renal agenesis	4/8	OMIM:620305
6091	ROBO1	HP:0012110	Hypoplasia of the pons	1/1	OMIM:620305
6091	ROBO1	HP:0011755	Ectopic posterior pituitary	1/1	OMIM:620305
6091	ROBO1	HP:0011755	Ectopic posterior pituitary	1/5	OMIM:620303
6091	ROBO1	HP:0011755	Ectopic posterior pituitary	HP:0040280	ORPHA:95496
6091	ROBO1	HP:0008163	Decreased circulating cortisol level	1/1	OMIM:620305
6091	ROBO1	HP:0011787	Central hypothyroidism	1/1	OMIM:620305
6091	ROBO1	HP:0002119	Ventriculomegaly	2/10	OMIM:620305
6091	ROBO1	HP:0002126	Polymicrogyria	1/3	OMIM:620305
6091	ROBO1	HP:0004719	Hyperechogenic kidneys	5/6	OMIM:620305
6091	ROBO1	HP:0003577	Congenital onset	1/1	OMIM:620305
6091	ROBO1	HP:0010627	Anterior pituitary hypoplasia	4/5	OMIM:620303
6091	ROBO1	HP:0010626	Anterior pituitary agenesis	1/5	OMIM:620303
6091	ROBO1	HP:0001089	Iris atrophy	1/5	OMIM:620305
6091	ROBO1	HP:0012624	Stage 2 chronic kidney disease	3/8	OMIM:620305
6091	ROBO1	HP:0000639	Nystagmus	-	OMIM:257400
6091	ROBO1	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:95496
6091	ROBO1	HP:0010034	Short 1st metacarpal	1/3	OMIM:620305
6091	ROBO1	HP:0001988	Recurrent hypoglycemia	1/1	OMIM:620305
6091	ROBO1	HP:0004322	Short stature	HP:0040281	ORPHA:95496
6091	ROBO1	HP:0004322	Short stature	5/5	OMIM:620303
6091	ROBO1	HP:0006934	Congenital nystagmus	-	OMIM:257400
6091	ROBO1	HP:0034198	Second trimester onset	2/3	OMIM:620305
6091	ROBO1	HP:0010109	Short hallux	2/3	OMIM:620305
6091	ROBO1	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:95496
6091	ROBO1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:95496
6091	ROBO1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040281	ORPHA:95496
6091	ROBO1	HP:0000835	Adrenal hypoplasia	HP:0040283	ORPHA:95496
6091	ROBO1	HP:0000821	Hypothyroidism	HP:0040282	ORPHA:95496
6091	ROBO1	HP:0000823	Delayed puberty	HP:0040282	ORPHA:95496
6091	ROBO1	HP:0034323	Reduced circulating growth hormone concentration	5/5	OMIM:620303
6091	ROBO1	HP:0011679	Tetralogy of Fallot with pulmonary stenosis	1/7	OMIM:620305
6091	ROBO1	HP:0000289	Broad philtrum	1/1	OMIM:620305
6091	ROBO1	HP:0000238	Hydrocephalus	3/11	OMIM:620305
6091	ROBO1	HP:0001545	Anteriorly placed anus	2/3	OMIM:620305
6091	ROBO1	HP:0001522	Death in infancy	HP:0040283	ORPHA:95496
6091	ROBO1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:95496
6091	ROBO1	HP:0001607	Subglottic stenosis	1/7	OMIM:620305
6091	ROBO1	HP:0002920	Decreased circulating ACTH concentration	1/1	OMIM:620305
6091	ROBO1	HP:0002920	Decreased circulating ACTH concentration	1/5	OMIM:620303
6091	ROBO1	HP:0002908	Conjugated hyperbilirubinemia	1/1	OMIM:620305
6091	ROBO1	HP:0000337	Broad forehead	1/1	OMIM:620305
6091	ROBO1	HP:0000347	Micrognathia	1/1	OMIM:620305
6091	ROBO1	HP:0001651	Dextrocardia	1/7	OMIM:620305
6091	ROBO1	HP:0001655	Patent foramen ovale	1/7	OMIM:620305
6091	ROBO1	HP:0001634	Mitral valve prolapse	1/7	OMIM:620305
6091	ROBO1	HP:0005343	Hypoplasia of the bladder	1/3	OMIM:620305
6091	ROBO1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:620305
6091	ROBO1	HP:0000486	Strabismus	4/7	OMIM:620305
6091	ROBO1	HP:0000486	Strabismus	3/5	OMIM:620303
6091	ROBO1	HP:0000410	Mixed hearing impairment	1/7	OMIM:620305
6091	ROBO1	HP:0001762	Talipes equinovarus	1/7	OMIM:620305
6091	ROBO1	HP:0025700	Anhydramnios	2/3	OMIM:620305
6091	ROBO1	HP:0000508	Ptosis	1/5	OMIM:620303
6091	ROBO1	HP:0030344	Decreased circulating luteinizing hormone level	1/5	OMIM:620303
6091	ROBO1	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1/5	OMIM:620303
6091	ROBO1	HP:0030353	Decreased serum insulin-like growth factor 1	5/5	OMIM:620303
6091	ROBO1	HP:0000540	Hypermetropia	1/5	OMIM:620305
6091	ROBO1	HP:0000540	Hypermetropia	2/5	OMIM:620303
6092	ROBO2	HP:0000089	Renal hypoplasia	-	OMIM:610878
6092	ROBO2	HP:0000076	Vesicoureteral reflux	-	OMIM:610878
6092	ROBO2	HP:0000006	Autosomal dominant inheritance	-	OMIM:610878
6094	ROM1	HP:0001133	Constriction of peripheral visual field	-	OMIM:608133
6094	ROM1	HP:0001133	Constriction of peripheral visual field	-	OMIM:268000
6094	ROM1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
6094	ROM1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
6094	ROM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608133
6094	ROM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
6094	ROM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:268000
6094	ROM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:608133
6094	ROM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
6094	ROM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:268000
6094	ROM1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
6094	ROM1	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
6094	ROM1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
6094	ROM1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
6094	ROM1	HP:0001419	X-linked recessive inheritance	-	OMIM:268000
6094	ROM1	HP:0003621	Juvenile onset	8/19	OMIM:180100
6094	ROM1	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
6094	ROM1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
6094	ROM1	HP:0000618	Blindness	HP:0040281	ORPHA:791
6094	ROM1	HP:0000613	Photophobia	HP:0040281	ORPHA:791
6094	ROM1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
6094	ROM1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
6094	ROM1	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
6094	ROM1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
6094	ROM1	HP:0000662	Nyctalopia	-	OMIM:608133
6094	ROM1	HP:0000662	Nyctalopia	-	OMIM:268000
6094	ROM1	HP:0000662	Nyctalopia	26/28	OMIM:180100
6094	ROM1	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
6094	ROM1	HP:0011463	Childhood onset	3/19	OMIM:180100
6094	ROM1	HP:0011462	Young adult onset	8/19	OMIM:180100
6094	ROM1	HP:0030786	Photopsia	HP:0040283	ORPHA:791
6094	ROM1	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
6094	ROM1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
6094	ROM1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
6094	ROM1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
6094	ROM1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
6094	ROM1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
6094	ROM1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
6094	ROM1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
6094	ROM1	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:608133
6094	ROM1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
6094	ROM1	HP:0007830	Adult-onset night blindness	-	OMIM:608133
6094	ROM1	HP:0031605	Abnormality of fundus pigmentation	-	OMIM:268000
6094	ROM1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
6094	ROM1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
6094	ROM1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
6094	ROM1	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
6094	ROM1	HP:0000510	Rod-cone dystrophy	-	OMIM:608133
6094	ROM1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
6094	ROM1	HP:0000510	Rod-cone dystrophy	20/20	OMIM:268000
6094	ROM1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
6094	ROM1	HP:0000512	Abnormal electroretinogram	-	OMIM:608133
6094	ROM1	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
6094	ROM1	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
6094	ROM1	HP:0000580	Pigmentary retinopathy	-	OMIM:608133
6094	ROM1	HP:0000575	Scotoma	5/18	OMIM:180100
6094	ROM1	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
6094	ROM1	HP:0000533	Chorioretinal atrophy	HP:0040283	OMIM:608133
6094	ROM1	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
6094	ROM1	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
6094	ROM1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
6094	ROM1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
6094	ROM1	HP:0000545	Myopia	-	OMIM:180100
6095	RORA	HP:0007256	Abnormal pyramidal sign	1/16	OMIM:618060
6095	RORA	HP:0001290	Generalized hypotonia	7/13	OMIM:618060
6095	RORA	HP:0001270	Motor delay	-	OMIM:618060
6095	RORA	HP:0001250	Seizure	9/16	OMIM:618060
6095	RORA	HP:0001251	Ataxia	4/13	OMIM:618060
6095	RORA	HP:0001249	Intellectual disability	-	OMIM:618060
6095	RORA	HP:0001263	Global developmental delay	-	OMIM:618060
6095	RORA	HP:0012076	Borderline personality disorder	1/16	OMIM:618060
6095	RORA	HP:0000028	Cryptorchidism	1/8	OMIM:618060
6095	RORA	HP:0001337	Tremor	8/13	OMIM:618060
6095	RORA	HP:0000006	Autosomal dominant inheritance	-	OMIM:618060
6095	RORA	HP:0001321	Cerebellar hypoplasia	2/9	OMIM:618060
6095	RORA	HP:0000126	Hydronephrosis	1/16	OMIM:618060
6095	RORA	HP:0002079	Hypoplasia of the corpus callosum	1/9	OMIM:618060
6095	RORA	HP:0025097	Eyelid myoclonus	1/16	OMIM:618060
6095	RORA	HP:0002311	Incoordination	2/13	OMIM:618060
6095	RORA	HP:0006879	Pontocerebellar atrophy	1/9	OMIM:618060
6095	RORA	HP:0000639	Nystagmus	1/13	OMIM:618060
6095	RORA	HP:0000646	Amblyopia	1/13	OMIM:618060
6095	RORA	HP:0000657	Oculomotor apraxia	1/13	OMIM:618060
6095	RORA	HP:0031936	Delayed ability to walk	8/12	OMIM:618060
6095	RORA	HP:0000750	Delayed speech and language development	10/13	OMIM:618060
6095	RORA	HP:0000729	Autistic behavior	5/16	OMIM:618060
6095	RORA	HP:0003298	Spina bifida occulta	1/16	OMIM:618060
6095	RORA	HP:0000486	Strabismus	6/13	OMIM:618060
6095	RORA	HP:0012450	Chronic constipation	1/16	OMIM:618060
6095	RORA	HP:0000565	Esotropia	2/13	OMIM:618060
6095	RORA	HP:0000540	Hypermetropia	2/13	OMIM:618060
6096	RORB	HP:0001250	Seizure	-	OMIM:618357
6096	RORB	HP:0001263	Global developmental delay	-	OMIM:618357
6096	RORB	HP:0003829	Typified by incomplete penetrance	-	OMIM:618357
6096	RORB	HP:0000006	Autosomal dominant inheritance	-	OMIM:618357
6096	RORB	HP:0001336	Myoclonus	-	OMIM:618357
6096	RORB	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:618357
6096	RORB	HP:0002121	Generalized non-motor (absence) seizure	-	OMIM:618357
6096	RORB	HP:0003593	Infantile onset	1/20	OMIM:618357
6096	RORB	HP:0025097	Eyelid myoclonus	-	OMIM:618357
6096	RORB	HP:0003621	Juvenile onset	8/20	OMIM:618357
6096	RORB	HP:0000750	Delayed speech and language development	-	OMIM:618357
6096	RORB	HP:0000718	Aggressive behavior	-	OMIM:618357
6096	RORB	HP:0000708	Atypical behavior	HP:0040284	OMIM:618357
6096	RORB	HP:0011463	Childhood onset	11/20	OMIM:618357
6096	RORB	HP:0000992	Cutaneous photosensitivity	-	OMIM:618357
6097	RORC	HP:0000007	Autosomal recessive inheritance	-	OMIM:616622
6097	RORC	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
6097	RORC	HP:0002619	Varicose veins	-	OMIM:153400
6097	RORC	HP:0000175	Cleft palate	5/39	OMIM:153400
6097	RORC	HP:0003593	Infantile onset	6/7	OMIM:616622
6097	RORC	HP:0002240	Hepatomegaly	2/7	OMIM:616622
6097	RORC	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
6097	RORC	HP:0009743	Distichiasis	42/42	OMIM:153400
6097	RORC	HP:0020087	BCGosis	6/7	OMIM:616622
6097	RORC	HP:0001004	Lymphedema	-	OMIM:153400
6097	RORC	HP:0100658	Cellulitis	2/6	OMIM:153400
6097	RORC	HP:0009098	Chronic oral candidiasis	5/7	OMIM:616622
6097	RORC	HP:0000613	Photophobia	10/49	OMIM:153400
6097	RORC	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
6097	RORC	HP:0011370	Recurrent cutaneous fungal infections	3/7	OMIM:616622
6097	RORC	HP:0000656	Ectropion	2/43	OMIM:153400
6097	RORC	HP:0003011	Abnormality of the musculature	-	OMIM:153400
6097	RORC	HP:0011463	Childhood onset	1/7	OMIM:616622
6097	RORC	HP:0000778	Hypoplasia of the thymus	-	OMIM:616622
6097	RORC	HP:0012804	Corneal ulceration	-	OMIM:153400
6097	RORC	HP:0010310	Chylothorax	1/6	OMIM:153400
6097	RORC	HP:0011675	Arrhythmia	-	OMIM:153400
6097	RORC	HP:0002808	Kyphosis	2/5	OMIM:153400
6097	RORC	HP:0000204	Cleft upper lip	-	OMIM:153400
6097	RORC	HP:0000347	Micrognathia	2/5	OMIM:153400
6097	RORC	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
6097	RORC	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
6097	RORC	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
6097	RORC	HP:0000476	Cystic hygroma	2/43	OMIM:153400
6097	RORC	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
6097	RORC	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
6097	RORC	HP:0011107	Recurrent aphthous stomatitis	1/7	OMIM:616622
6097	RORC	HP:0000465	Webbed neck	6/43	OMIM:153400
6097	RORC	HP:0001744	Splenomegaly	2/7	OMIM:616622
6097	RORC	HP:0000509	Conjunctivitis	-	OMIM:153400
6097	RORC	HP:0000508	Ptosis	2/39	OMIM:153400
6097	RORC	HP:0000568	Microphthalmia	1/6	OMIM:153400
6098	ROS1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:70567
6098	ROS1	HP:0002039	Anorexia	HP:0040283	ORPHA:70567
6098	ROS1	HP:0100574	Biliary tract neoplasm	HP:0040281	ORPHA:70567
6098	ROS1	HP:0011985	Acholic stools	HP:0040281	ORPHA:70567
6098	ROS1	HP:0001945	Fever	HP:0040283	ORPHA:70567
6098	ROS1	HP:0000989	Pruritus	HP:0040282	ORPHA:70567
6098	ROS1	HP:0000952	Jaundice	HP:0040281	ORPHA:70567
6098	ROS1	HP:0012378	Fatigue	HP:0040282	ORPHA:70567
6100	RP9	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
6100	RP9	HP:0001133	Constriction of peripheral visual field	-	OMIM:180104
6100	RP9	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
6100	RP9	HP:0007401	Macular atrophy	HP:0040283	OMIM:180104
6100	RP9	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
6100	RP9	HP:0000006	Autosomal dominant inheritance	-	OMIM:180104
6100	RP9	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
6100	RP9	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
6100	RP9	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180104
6100	RP9	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
6100	RP9	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
6100	RP9	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
6100	RP9	HP:0003621	Juvenile onset	8/19	OMIM:180100
6100	RP9	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
6100	RP9	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
6100	RP9	HP:0000618	Blindness	HP:0040281	ORPHA:791
6100	RP9	HP:0000613	Photophobia	HP:0040281	ORPHA:791
6100	RP9	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
6100	RP9	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
6100	RP9	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
6100	RP9	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
6100	RP9	HP:0000662	Nyctalopia	-	OMIM:180104
6100	RP9	HP:0000662	Nyctalopia	26/28	OMIM:180100
6100	RP9	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
6100	RP9	HP:0011463	Childhood onset	3/19	OMIM:180100
6100	RP9	HP:0011462	Young adult onset	8/19	OMIM:180100
6100	RP9	HP:0030786	Photopsia	HP:0040283	ORPHA:791
6100	RP9	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
6100	RP9	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
6100	RP9	HP:0040049	Macular edema	HP:0040283	OMIM:180104
6100	RP9	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
6100	RP9	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
6100	RP9	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
6100	RP9	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
6100	RP9	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
6100	RP9	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:180104
6100	RP9	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
6100	RP9	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
6100	RP9	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
6100	RP9	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
6100	RP9	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
6100	RP9	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
6100	RP9	HP:0000518	Cataract	HP:0040283	OMIM:180104
6100	RP9	HP:0000510	Rod-cone dystrophy	-	OMIM:180104
6100	RP9	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
6100	RP9	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
6100	RP9	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
6100	RP9	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
6100	RP9	HP:0000575	Scotoma	5/18	OMIM:180100
6100	RP9	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
6100	RP9	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
6100	RP9	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
6100	RP9	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
6100	RP9	HP:0000543	Optic disc pallor	1/1	OMIM:180100
6100	RP9	HP:0000545	Myopia	-	OMIM:180100
6101	RP1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
6101	RP1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
6101	RP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
6101	RP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
6101	RP1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
6101	RP1	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
6101	RP1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
6101	RP1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
6101	RP1	HP:0003621	Juvenile onset	8/19	OMIM:180100
6101	RP1	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
6101	RP1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
6101	RP1	HP:0000618	Blindness	HP:0040281	ORPHA:791
6101	RP1	HP:0000613	Photophobia	HP:0040281	ORPHA:791
6101	RP1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
6101	RP1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
6101	RP1	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
6101	RP1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
6101	RP1	HP:0000662	Nyctalopia	26/28	OMIM:180100
6101	RP1	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
6101	RP1	HP:0011463	Childhood onset	3/19	OMIM:180100
6101	RP1	HP:0011462	Young adult onset	8/19	OMIM:180100
6101	RP1	HP:0030786	Photopsia	HP:0040283	ORPHA:791
6101	RP1	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
6101	RP1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
6101	RP1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
6101	RP1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
6101	RP1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
6101	RP1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
6101	RP1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
6101	RP1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
6101	RP1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
6101	RP1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
6101	RP1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
6101	RP1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
6101	RP1	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
6101	RP1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
6101	RP1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
6101	RP1	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
6101	RP1	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
6101	RP1	HP:0000575	Scotoma	5/18	OMIM:180100
6101	RP1	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
6101	RP1	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
6101	RP1	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
6101	RP1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
6101	RP1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
6101	RP1	HP:0000545	Myopia	-	OMIM:180100
6102	RP2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
6102	RP2	HP:0001133	Constriction of peripheral visual field	-	OMIM:312600
6102	RP2	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
6102	RP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
6102	RP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
6102	RP2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
6102	RP2	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
6102	RP2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
6102	RP2	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
6102	RP2	HP:0001417	X-linked inheritance	-	OMIM:312600
6102	RP2	HP:0001099	Fundus atrophy	15/25	OMIM:312600
6102	RP2	HP:0200065	Chorioretinal degeneration	-	OMIM:312600
6102	RP2	HP:0003621	Juvenile onset	8/19	OMIM:180100
6102	RP2	HP:0003621	Juvenile onset	9/24	OMIM:312600
6102	RP2	HP:0030529	Ring scotoma	4/25	OMIM:312600
6102	RP2	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
6102	RP2	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
6102	RP2	HP:0000618	Blindness	HP:0040281	ORPHA:791
6102	RP2	HP:0000613	Photophobia	HP:0040281	ORPHA:791
6102	RP2	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
6102	RP2	HP:0000603	Central scotoma	13/25	OMIM:312600
6102	RP2	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
6102	RP2	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
6102	RP2	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
6102	RP2	HP:0000662	Nyctalopia	-	OMIM:312600
6102	RP2	HP:0000662	Nyctalopia	26/28	OMIM:180100
6102	RP2	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
6102	RP2	HP:0011463	Childhood onset	3/19	OMIM:180100
6102	RP2	HP:0011463	Childhood onset	11/24	OMIM:312600
6102	RP2	HP:0011462	Young adult onset	8/19	OMIM:180100
6102	RP2	HP:0011462	Young adult onset	4/24	OMIM:312600
6102	RP2	HP:0030786	Photopsia	HP:0040283	ORPHA:791
6102	RP2	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
6102	RP2	HP:0011504	Bull's eye maculopathy	7/25	OMIM:312600
6102	RP2	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
6102	RP2	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
6102	RP2	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
6102	RP2	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
6102	RP2	HP:0007761	Pericentral scotoma	1/25	OMIM:312600
6102	RP2	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
6102	RP2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
6102	RP2	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
6102	RP2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
6102	RP2	HP:0011003	High myopia	11/19	OMIM:312600
6102	RP2	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
6102	RP2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
6102	RP2	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
6102	RP2	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
6102	RP2	HP:0000518	Cataract	-	OMIM:312600
6102	RP2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
6102	RP2	HP:0000510	Rod-cone dystrophy	-	OMIM:312600
6102	RP2	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
6102	RP2	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
6102	RP2	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
6102	RP2	HP:0000580	Pigmentary retinopathy	-	OMIM:312600
6102	RP2	HP:0000575	Scotoma	5/18	OMIM:180100
6102	RP2	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
6102	RP2	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
6102	RP2	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
6102	RP2	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
6102	RP2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
6102	RP2	HP:0000545	Myopia	-	OMIM:180100
6102	RP2	HP:0000545	Myopia	19/19	OMIM:312600
6103	RPGR	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
6103	RPGR	HP:0001133	Constriction of peripheral visual field	4/5	OMIM:300029
6103	RPGR	HP:0001103	Abnormal macular morphology	HP:0040283	ORPHA:49382
6103	RPGR	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
6103	RPGR	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
6103	RPGR	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
6103	RPGR	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
6103	RPGR	HP:0001217	Clubbing	HP:0040283	ORPHA:244
6103	RPGR	HP:0012043	Pendular nystagmus	HP:0040281	ORPHA:49382
6103	RPGR	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
6103	RPGR	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
6103	RPGR	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
6103	RPGR	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
6103	RPGR	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
6103	RPGR	HP:0007663	Reduced visual acuity	-	OMIM:304020
6103	RPGR	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
6103	RPGR	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:49382
6103	RPGR	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
6103	RPGR	HP:0007663	Reduced visual acuity	-	OMIM:300834
6103	RPGR	HP:0007663	Reduced visual acuity	9/9	OMIM:300029
6103	RPGR	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
6103	RPGR	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
6103	RPGR	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
6103	RPGR	HP:0001419	X-linked recessive inheritance	-	OMIM:300455
6103	RPGR	HP:0001419	X-linked recessive inheritance	-	OMIM:300834
6103	RPGR	HP:0001417	X-linked inheritance	-	OMIM:304020
6103	RPGR	HP:0001417	X-linked inheritance	-	OMIM:300029
6103	RPGR	HP:0031245	Productive cough	HP:0040282	ORPHA:244
6103	RPGR	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
6103	RPGR	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
6103	RPGR	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
6103	RPGR	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
6103	RPGR	HP:0008222	Female infertility	HP:0040283	ORPHA:244
6103	RPGR	HP:0003596	Middle age onset	1/5	OMIM:300029
6103	RPGR	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
6103	RPGR	HP:0100750	Atelectasis	-	OMIM:300455
6103	RPGR	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
6103	RPGR	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
6103	RPGR	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
6103	RPGR	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
6103	RPGR	HP:0003621	Juvenile onset	8/19	OMIM:180100
6103	RPGR	HP:0030529	Ring scotoma	1/5	OMIM:300029
6103	RPGR	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
6103	RPGR	HP:0000639	Nystagmus	-	OMIM:304020
6103	RPGR	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
6103	RPGR	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
6103	RPGR	HP:0000618	Blindness	HP:0040281	ORPHA:791
6103	RPGR	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
6103	RPGR	HP:0000613	Photophobia	-	OMIM:304020
6103	RPGR	HP:0000613	Photophobia	HP:0040281	ORPHA:49382
6103	RPGR	HP:0000613	Photophobia	HP:0040281	ORPHA:791
6103	RPGR	HP:0000613	Photophobia	5/5	OMIM:300029
6103	RPGR	HP:0000608	Macular degeneration	-	OMIM:300834
6103	RPGR	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
6103	RPGR	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
6103	RPGR	HP:0000603	Central scotoma	HP:0040282	ORPHA:49382
6103	RPGR	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
6103	RPGR	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
6103	RPGR	HP:0030465	Undetectable light-adapted electroretinogram	HP:0040281	ORPHA:49382
6103	RPGR	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
6103	RPGR	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
6103	RPGR	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
6103	RPGR	HP:0000662	Nyctalopia	-	OMIM:304020
6103	RPGR	HP:0000662	Nyctalopia	26/28	OMIM:180100
6103	RPGR	HP:0000662	Nyctalopia	9/9	OMIM:300029
6103	RPGR	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
6103	RPGR	HP:0030620	Inner retinal layer loss on macular OCT	HP:0040281	ORPHA:49382
6103	RPGR	HP:0030632	Hypoautofluorescent macular lesion	-	OMIM:304020
6103	RPGR	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
6103	RPGR	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
6103	RPGR	HP:0030584	Color vision test abnormality	HP:0040281	ORPHA:49382
6103	RPGR	HP:0011463	Childhood onset	3/19	OMIM:180100
6103	RPGR	HP:0011463	Childhood onset	4/5	OMIM:300029
6103	RPGR	HP:0011462	Young adult onset	10/10	OMIM:304020
6103	RPGR	HP:0011462	Young adult onset	8/19	OMIM:180100
6103	RPGR	HP:0030786	Photopsia	HP:0040283	ORPHA:791
6103	RPGR	HP:0034272	Perifoveal hypoautofluorescence	4/4	OMIM:300029
6103	RPGR	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
6103	RPGR	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
6103	RPGR	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
6103	RPGR	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
6103	RPGR	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
6103	RPGR	HP:0030828	Wheezing	HP:0040283	ORPHA:244
6103	RPGR	HP:0030825	Absent foveal reflex	HP:0040282	ORPHA:49382
6103	RPGR	HP:0003251	Male infertility	HP:0040282	ORPHA:244
6103	RPGR	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
6103	RPGR	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
6103	RPGR	HP:0007722	Retinal pigment epithelial atrophy	HP:0040284	ORPHA:49382
6103	RPGR	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:304020
6103	RPGR	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
6103	RPGR	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
6103	RPGR	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
6103	RPGR	HP:0025549	Eccentric visual fixation	HP:0040283	ORPHA:49382
6103	RPGR	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
6103	RPGR	HP:0005101	High-frequency hearing impairment	-	OMIM:300455
6103	RPGR	HP:0007750	Hypoplasia of the fovea	HP:0040282	ORPHA:49382
6103	RPGR	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
6103	RPGR	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
6103	RPGR	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
6103	RPGR	HP:0007737	Bone spicule pigmentation of the retina	9/9	OMIM:300029
6103	RPGR	HP:0007695	Abnormal pupillary light reflex	HP:0040283	ORPHA:49382
6103	RPGR	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
6103	RPGR	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
6103	RPGR	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
6103	RPGR	HP:0002837	Recurrent bronchitis	-	OMIM:300455
6103	RPGR	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
6103	RPGR	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
6103	RPGR	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
6103	RPGR	HP:0007843	Attenuation of retinal blood vessels	HP:0040283	ORPHA:49382
6103	RPGR	HP:0007814	Retinal pigment epithelial mottling	HP:0040283	ORPHA:49382
6103	RPGR	HP:0007814	Retinal pigment epithelial mottling	-	OMIM:304020
6103	RPGR	HP:0007803	Monochromacy	HP:0040281	ORPHA:49382
6103	RPGR	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
6103	RPGR	HP:0000388	Otitis media	-	OMIM:300455
6103	RPGR	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
6103	RPGR	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
6103	RPGR	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
6103	RPGR	HP:0011003	High myopia	2/5	OMIM:300029
6103	RPGR	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
6103	RPGR	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
6103	RPGR	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
6103	RPGR	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
6103	RPGR	HP:0005376	Recurrent Haemophilus influenzae infections	-	OMIM:300455
6103	RPGR	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
6103	RPGR	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
6103	RPGR	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
6103	RPGR	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
6103	RPGR	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
6103	RPGR	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
6103	RPGR	HP:0011109	Chronic sinusitis	-	OMIM:300455
6103	RPGR	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
6103	RPGR	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
6103	RPGR	HP:0001746	Asplenia	HP:0040284	ORPHA:244
6103	RPGR	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
6103	RPGR	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
6103	RPGR	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
6103	RPGR	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
6103	RPGR	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
6103	RPGR	HP:0000510	Rod-cone dystrophy	-	OMIM:300455
6103	RPGR	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
6103	RPGR	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
6103	RPGR	HP:0000510	Rod-cone dystrophy	-	OMIM:300029
6103	RPGR	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
6103	RPGR	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
6103	RPGR	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
6103	RPGR	HP:0000505	Visual impairment	-	OMIM:304020
6103	RPGR	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
6103	RPGR	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
6103	RPGR	HP:0000575	Scotoma	5/18	OMIM:180100
6103	RPGR	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
6103	RPGR	HP:0000540	Hypermetropia	HP:0040282	ORPHA:49382
6103	RPGR	HP:0000539	Abnormality of refraction	HP:0040281	ORPHA:49382
6103	RPGR	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
6103	RPGR	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
6103	RPGR	HP:0000551	Color vision defect	HP:0040281	ORPHA:49382
6103	RPGR	HP:0000551	Color vision defect	8/9	OMIM:300029
6103	RPGR	HP:0000551	Color vision defect	-	OMIM:304020
6103	RPGR	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
6103	RPGR	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
6103	RPGR	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
6103	RPGR	HP:0000543	Optic disc pallor	1/1	OMIM:180100
6103	RPGR	HP:0000545	Myopia	-	OMIM:304020
6103	RPGR	HP:0000545	Myopia	-	OMIM:180100
6103	RPGR	HP:0000545	Myopia	HP:0040282	ORPHA:49382
6117	RPA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619767
6117	RPA1	HP:0007588	Reticular hyperpigmentation	1/4	OMIM:619767
6117	RPA1	HP:0002745	Oral leukoplakia	1/4	OMIM:619767
6117	RPA1	HP:0002091	Restrictive ventilatory defect	1/4	OMIM:619767
6117	RPA1	HP:0003596	Middle age onset	1/4	OMIM:619767
6117	RPA1	HP:0003577	Congenital onset	1/4	OMIM:619767
6117	RPA1	HP:0002216	Premature graying of hair	1/4	OMIM:619767
6117	RPA1	HP:0002206	Pulmonary fibrosis	3/4	OMIM:619767
6117	RPA1	HP:0008404	Nail dystrophy	1/4	OMIM:619767
6117	RPA1	HP:0003621	Juvenile onset	2/4	OMIM:619767
6117	RPA1	HP:0005528	Bone marrow hypocellularity	1/4	OMIM:619767
6117	RPA1	HP:0004313	Decreased circulating immunoglobulin concentration	1/4	OMIM:619767
6117	RPA1	HP:0031413	Short telomere length	4/4	OMIM:619767
6117	RPA1	HP:0002863	Myelodysplasia	1/4	OMIM:619767
6117	RPA1	HP:0031545	Abnormally low T cell receptor excision circle level	1/4	OMIM:619767
6117	RPA1	HP:0001888	Decreased total lymphocyte count	1/4	OMIM:619767
6117	RPA1	HP:0001876	Pancytopenia	1/4	OMIM:619767
6121	RPE65	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
6121	RPE65	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
6121	RPE65	HP:0001141	Severely reduced visual acuity	-	OMIM:613794
6121	RPE65	HP:0001103	Abnormal macular morphology	HP:0040282	ORPHA:364055
6121	RPE65	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
6121	RPE65	HP:0001116	Macular coloboma	HP:0040283	ORPHA:364055
6121	RPE65	HP:0001270	Motor delay	HP:0040283	ORPHA:65
6121	RPE65	HP:0001250	Seizure	HP:0040282	ORPHA:65
6121	RPE65	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
6121	RPE65	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
6121	RPE65	HP:0001249	Intellectual disability	2/13	OMIM:204100
6121	RPE65	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
6121	RPE65	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
6121	RPE65	HP:0000007	Autosomal recessive inheritance	-	OMIM:613794
6121	RPE65	HP:0000007	Autosomal recessive inheritance	-	OMIM:204100
6121	RPE65	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
6121	RPE65	HP:0000006	Autosomal dominant inheritance	-	OMIM:618697
6121	RPE65	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:204100
6121	RPE65	HP:0001483	Eye poking	-	OMIM:204100
6121	RPE65	HP:0001483	Eye poking	HP:0040282	ORPHA:65
6121	RPE65	HP:0007688	Undetectable light- and dark-adapted electroretinogram	13/13	OMIM:204100
6121	RPE65	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
6121	RPE65	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
6121	RPE65	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
6121	RPE65	HP:0007663	Reduced visual acuity	14/14	OMIM:204100
6121	RPE65	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
6121	RPE65	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:364055
6121	RPE65	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
6121	RPE65	HP:0002172	Postural instability	HP:0040283	ORPHA:364055
6121	RPE65	HP:0003593	Infantile onset	14/14	OMIM:204100
6121	RPE65	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
6121	RPE65	HP:0002317	Unsteady gait	HP:0040283	ORPHA:364055
6121	RPE65	HP:0001099	Fundus atrophy	1/13	OMIM:204100
6121	RPE65	HP:0003621	Juvenile onset	8/19	OMIM:180100
6121	RPE65	HP:0030505	Nummular pigmentation of the fundus	-	OMIM:618697
6121	RPE65	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
6121	RPE65	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
6121	RPE65	HP:0000639	Nystagmus	HP:0040282	ORPHA:364055
6121	RPE65	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
6121	RPE65	HP:0000639	Nystagmus	1/1	OMIM:204100
6121	RPE65	HP:0000639	Nystagmus	-	OMIM:613794
6121	RPE65	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
6121	RPE65	HP:0000618	Blindness	HP:0040281	ORPHA:791
6121	RPE65	HP:0000618	Blindness	-	OMIM:204100
6121	RPE65	HP:0000613	Photophobia	HP:0040282	ORPHA:65
6121	RPE65	HP:0000613	Photophobia	0/14	OMIM:204100
6121	RPE65	HP:0000613	Photophobia	HP:0040281	ORPHA:791
6121	RPE65	HP:0000613	Photophobia	HP:0040283	ORPHA:364055
6121	RPE65	HP:0000622	Blurred vision	HP:0040283	ORPHA:364055
6121	RPE65	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
6121	RPE65	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
6121	RPE65	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
6121	RPE65	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
6121	RPE65	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:364055
6121	RPE65	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
6121	RPE65	HP:0000662	Nyctalopia	HP:0040282	ORPHA:364055
6121	RPE65	HP:0000662	Nyctalopia	26/28	OMIM:180100
6121	RPE65	HP:0000662	Nyctalopia	14/14	OMIM:204100
6121	RPE65	HP:0000662	Nyctalopia	-	OMIM:613794
6121	RPE65	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
6121	RPE65	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
6121	RPE65	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
6121	RPE65	HP:0011488	Abnormal corneal endothelium morphology	HP:0040283	ORPHA:364055
6121	RPE65	HP:0011484	Posterior synechiae of the anterior chamber	HP:0040283	ORPHA:364055
6121	RPE65	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
6121	RPE65	HP:0011463	Childhood onset	3/19	OMIM:180100
6121	RPE65	HP:0011463	Childhood onset	-	OMIM:613794
6121	RPE65	HP:0011462	Young adult onset	8/19	OMIM:180100
6121	RPE65	HP:0030786	Photopsia	HP:0040283	ORPHA:791
6121	RPE65	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
6121	RPE65	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
6121	RPE65	HP:0030825	Absent foveal reflex	6/13	OMIM:204100
6121	RPE65	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
6121	RPE65	HP:0007722	Retinal pigment epithelial atrophy	HP:0040283	ORPHA:364055
6121	RPE65	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
6121	RPE65	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
6121	RPE65	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:364055
6121	RPE65	HP:0007793	Granular macular appearance	HP:0040283	ORPHA:364055
6121	RPE65	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
6121	RPE65	HP:0007787	Posterior subcapsular cataract	HP:0040283	ORPHA:364055
6121	RPE65	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
6121	RPE65	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
6121	RPE65	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:364055
6121	RPE65	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:618697
6121	RPE65	HP:0007695	Abnormal pupillary light reflex	HP:0040282	ORPHA:364055
6121	RPE65	HP:0012230	Rhegmatogenous retinal detachment	HP:0040284	ORPHA:364055
6121	RPE65	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
6121	RPE65	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:364055
6121	RPE65	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
6121	RPE65	HP:0007843	Attenuation of retinal blood vessels	13/13	OMIM:204100
6121	RPE65	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:613794
6121	RPE65	HP:0007814	Retinal pigment epithelial mottling	HP:0040282	ORPHA:364055
6121	RPE65	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
6121	RPE65	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
6121	RPE65	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:364055
6121	RPE65	HP:0007994	Peripheral visual field loss	-	OMIM:618697
6121	RPE65	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
6121	RPE65	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
6121	RPE65	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
6121	RPE65	HP:0012434	Delayed early-childhood social milestone development	HP:0040283	ORPHA:364055
6121	RPE65	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
6121	RPE65	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:364055
6121	RPE65	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
6121	RPE65	HP:0000518	Cataract	0/13	OMIM:204100
6121	RPE65	HP:0000518	Cataract	HP:0040282	ORPHA:65
6121	RPE65	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
6121	RPE65	HP:0000510	Rod-cone dystrophy	-	OMIM:613794
6121	RPE65	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
6121	RPE65	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
6121	RPE65	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
6121	RPE65	HP:0000505	Visual impairment	HP:0040282	ORPHA:364055
6121	RPE65	HP:0000505	Visual impairment	-	OMIM:613794
6121	RPE65	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
6121	RPE65	HP:0000580	Pigmentary retinopathy	-	OMIM:204100
6121	RPE65	HP:0000580	Pigmentary retinopathy	-	OMIM:618697
6121	RPE65	HP:0000575	Scotoma	5/18	OMIM:180100
6121	RPE65	HP:0000577	Exotropia	HP:0040283	ORPHA:364055
6121	RPE65	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
6121	RPE65	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
6121	RPE65	HP:0000563	Keratoconus	0/1	OMIM:204100
6121	RPE65	HP:0000541	Retinal detachment	HP:0040283	ORPHA:364055
6121	RPE65	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
6121	RPE65	HP:0000533	Chorioretinal atrophy	HP:0040283	ORPHA:364055
6121	RPE65	HP:0000533	Chorioretinal atrophy	-	OMIM:618697
6121	RPE65	HP:0000550	Undetectable electroretinogram	HP:0040282	ORPHA:364055
6121	RPE65	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
6121	RPE65	HP:0000551	Color vision defect	HP:0040282	ORPHA:364055
6121	RPE65	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
6121	RPE65	HP:0000546	Retinal degeneration	HP:0040282	ORPHA:364055
6121	RPE65	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
6121	RPE65	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:364055
6121	RPE65	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
6121	RPE65	HP:0000543	Optic disc pallor	1/1	OMIM:180100
6121	RPE65	HP:0000543	Optic disc pallor	9/13	OMIM:204100
6121	RPE65	HP:0000545	Myopia	-	OMIM:180100
6121	RPE65	HP:0000545	Myopia	HP:0040283	ORPHA:364055
6123	RPL3L	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
6123	RPL3L	HP:0000007	Autosomal recessive inheritance	-	OMIM:619371
6123	RPL3L	HP:0002092	Pulmonary arterial hypertension	3/5	OMIM:619371
6123	RPL3L	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
6123	RPL3L	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
6123	RPL3L	HP:0003593	Infantile onset	9/12	OMIM:619371
6123	RPL3L	HP:0003623	Neonatal onset	3/6	OMIM:619371
6123	RPL3L	HP:0012664	Reduced left ventricular ejection fraction	5/5	OMIM:619371
6123	RPL3L	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
6123	RPL3L	HP:0003198	Myopathy	HP:0040283	ORPHA:154
6123	RPL3L	HP:0030718	Right atrial enlargement	1/6	OMIM:619371
6123	RPL3L	HP:0011623	Muscular ventricular septal defect	1/5	OMIM:619371
6123	RPL3L	HP:0000969	Edema	HP:0040282	ORPHA:154
6123	RPL3L	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
6123	RPL3L	HP:0031329	Interstitial cardiac fibrosis	2/2	OMIM:619371
6123	RPL3L	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
6123	RPL3L	HP:0033997	Perinuclear cardiomyocyte vacuolization	2/2	OMIM:619371
6123	RPL3L	HP:0001522	Death in infancy	4/6	OMIM:619371
6123	RPL3L	HP:0012378	Fatigue	HP:0040282	ORPHA:154
6123	RPL3L	HP:0005180	Tricuspid regurgitation	3/5	OMIM:619371
6123	RPL3L	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
6123	RPL3L	HP:0001644	Dilated cardiomyopathy	6/6	OMIM:619371
6123	RPL3L	HP:0030149	Cardiogenic shock	1/6	OMIM:619371
6123	RPL3L	HP:0001653	Mitral regurgitation	3/5	OMIM:619371
6123	RPL3L	HP:0001655	Patent foramen ovale	1/5	OMIM:619371
6123	RPL3L	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
6123	RPL3L	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
6123	RPL3L	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
6125	RPL5	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6125	RPL5	HP:0001199	Triphalangeal thumb	8/20	OMIM:612561
6125	RPL5	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6125	RPL5	HP:0008551	Microtia	HP:0040284	ORPHA:124
6125	RPL5	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6125	RPL5	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6125	RPL5	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6125	RPL5	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6125	RPL5	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6125	RPL5	HP:0000006	Autosomal dominant inheritance	-	OMIM:612561
6125	RPL5	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6125	RPL5	HP:0000193	Bifid uvula	-	OMIM:612561
6125	RPL5	HP:0000175	Cleft palate	HP:0040282	OMIM:612561
6125	RPL5	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6125	RPL5	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6125	RPL5	HP:0002779	Tracheomalacia	-	OMIM:612561
6125	RPL5	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6125	RPL5	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6125	RPL5	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6125	RPL5	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6125	RPL5	HP:0011904	Persistence of hemoglobin F	HP:0040282	OMIM:612561
6125	RPL5	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6125	RPL5	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6125	RPL5	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6125	RPL5	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6125	RPL5	HP:0009778	Short thumb	-	OMIM:612561
6125	RPL5	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6125	RPL5	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6125	RPL5	HP:0005518	Increased mean corpuscular volume	-	OMIM:612561
6125	RPL5	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6125	RPL5	HP:0001972	Macrocytic anemia	-	OMIM:612561
6125	RPL5	HP:0004322	Short stature	HP:0040283	ORPHA:124
6125	RPL5	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6125	RPL5	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6125	RPL5	HP:0000980	Pallor	HP:0040282	ORPHA:124
6125	RPL5	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6125	RPL5	HP:0000278	Retrognathia	-	OMIM:612561
6125	RPL5	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6125	RPL5	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6125	RPL5	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6125	RPL5	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6125	RPL5	HP:0000218	High palate	HP:0040283	ORPHA:124
6125	RPL5	HP:0000204	Cleft upper lip	HP:0040282	OMIM:612561
6125	RPL5	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6125	RPL5	HP:0001508	Failure to thrive	-	OMIM:612561
6125	RPL5	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6125	RPL5	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6125	RPL5	HP:0001510	Growth delay	-	OMIM:612561
6125	RPL5	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6125	RPL5	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6125	RPL5	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6125	RPL5	HP:0000347	Micrognathia	HP:0040282	OMIM:612561
6125	RPL5	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6125	RPL5	HP:0000316	Hypertelorism	-	OMIM:612561
6125	RPL5	HP:0001643	Patent ductus arteriosus	-	OMIM:612561
6125	RPL5	HP:0001653	Mitral regurgitation	-	OMIM:612561
6125	RPL5	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6125	RPL5	HP:0001629	Ventricular septal defect	-	OMIM:612561
6125	RPL5	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6125	RPL5	HP:0001636	Tetralogy of Fallot	-	OMIM:612561
6125	RPL5	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6125	RPL5	HP:0001631	Atrial septal defect	3/20	OMIM:612561
6125	RPL5	HP:0001634	Mitral valve prolapse	-	OMIM:612561
6125	RPL5	HP:0001714	Ventricular hypertrophy	-	OMIM:612561
6125	RPL5	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6125	RPL5	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6125	RPL5	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6125	RPL5	HP:0000470	Short neck	HP:0040283	ORPHA:124
6125	RPL5	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6125	RPL5	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6125	RPL5	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6125	RPL5	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6125	RPL5	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6125	RPL5	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6125	RPL5	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6125	RPL5	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6125	RPL5	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6125	RPL5	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6125	RPL5	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6125	RPL5	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6125	RPL5	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6132	RPL8	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6132	RPL8	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6132	RPL8	HP:0008551	Microtia	HP:0040284	ORPHA:124
6132	RPL8	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6132	RPL8	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6132	RPL8	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6132	RPL8	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6132	RPL8	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6132	RPL8	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6132	RPL8	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6132	RPL8	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6132	RPL8	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6132	RPL8	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6132	RPL8	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6132	RPL8	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6132	RPL8	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6132	RPL8	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6132	RPL8	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6132	RPL8	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6132	RPL8	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6132	RPL8	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6132	RPL8	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6132	RPL8	HP:0004322	Short stature	HP:0040283	ORPHA:124
6132	RPL8	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6132	RPL8	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6132	RPL8	HP:0000980	Pallor	HP:0040282	ORPHA:124
6132	RPL8	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6132	RPL8	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6132	RPL8	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6132	RPL8	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6132	RPL8	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6132	RPL8	HP:0000218	High palate	HP:0040283	ORPHA:124
6132	RPL8	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6132	RPL8	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6132	RPL8	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6132	RPL8	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6132	RPL8	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6132	RPL8	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6132	RPL8	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6132	RPL8	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6132	RPL8	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6132	RPL8	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6132	RPL8	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6132	RPL8	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6132	RPL8	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6132	RPL8	HP:0000470	Short neck	HP:0040283	ORPHA:124
6132	RPL8	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6132	RPL8	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6132	RPL8	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6132	RPL8	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6132	RPL8	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6132	RPL8	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6132	RPL8	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6132	RPL8	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6132	RPL8	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6132	RPL8	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6132	RPL8	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6132	RPL8	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6132	RPL8	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6133	RPL9	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6133	RPL9	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6133	RPL9	HP:0008551	Microtia	HP:0040284	ORPHA:124
6133	RPL9	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6133	RPL9	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6133	RPL9	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6133	RPL9	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6133	RPL9	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6133	RPL9	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6133	RPL9	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6133	RPL9	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6133	RPL9	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6133	RPL9	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6133	RPL9	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6133	RPL9	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6133	RPL9	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6133	RPL9	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6133	RPL9	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6133	RPL9	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6133	RPL9	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6133	RPL9	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6133	RPL9	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6133	RPL9	HP:0004322	Short stature	HP:0040283	ORPHA:124
6133	RPL9	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6133	RPL9	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6133	RPL9	HP:0000980	Pallor	HP:0040282	ORPHA:124
6133	RPL9	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6133	RPL9	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6133	RPL9	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6133	RPL9	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6133	RPL9	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6133	RPL9	HP:0000218	High palate	HP:0040283	ORPHA:124
6133	RPL9	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6133	RPL9	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6133	RPL9	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6133	RPL9	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6133	RPL9	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6133	RPL9	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6133	RPL9	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6133	RPL9	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6133	RPL9	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6133	RPL9	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6133	RPL9	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6133	RPL9	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6133	RPL9	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6133	RPL9	HP:0000470	Short neck	HP:0040283	ORPHA:124
6133	RPL9	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6133	RPL9	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6133	RPL9	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6133	RPL9	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6133	RPL9	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6133	RPL9	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6133	RPL9	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6133	RPL9	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6133	RPL9	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6133	RPL9	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6133	RPL9	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6133	RPL9	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6133	RPL9	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6134	RPL10	HP:0001182	Tapered finger	HP:0040283	ORPHA:459070
6134	RPL10	HP:0001182	Tapered finger	1/3	OMIM:300998
6134	RPL10	HP:0001182	Tapered finger	HP:0040282	ORPHA:435938
6134	RPL10	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:459070
6134	RPL10	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6134	RPL10	HP:0001293	Cranial nerve compression	-	OMIM:131300
6134	RPL10	HP:0001290	Generalized hypotonia	1/4	OMIM:300998
6134	RPL10	HP:0001250	Seizure	HP:0040280	ORPHA:435938
6134	RPL10	HP:0001250	Seizure	4/5	OMIM:300998
6134	RPL10	HP:0001250	Seizure	HP:0040281	ORPHA:459070
6134	RPL10	HP:0001252	Hypotonia	HP:0040280	ORPHA:435938
6134	RPL10	HP:0001252	Hypotonia	3/3	OMIM:300998
6134	RPL10	HP:0001252	Hypotonia	2/7	OMIM:615777
6134	RPL10	HP:0001251	Ataxia	1/4	OMIM:300998
6134	RPL10	HP:0001251	Ataxia	HP:0040282	ORPHA:459070
6134	RPL10	HP:0001249	Intellectual disability	4/4	OMIM:300998
6134	RPL10	HP:0001249	Intellectual disability	5/7	OMIM:615777
6134	RPL10	HP:0001263	Global developmental delay	4/4	OMIM:300998
6134	RPL10	HP:0001263	Global developmental delay	-	OMIM:615777
6134	RPL10	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:435938
6134	RPL10	HP:0008734	Decreased testicular size	1/4	OMIM:300998
6134	RPL10	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:459070
6134	RPL10	HP:0008689	Bilateral cryptorchidism	2/4	OMIM:300998
6134	RPL10	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:459070
6134	RPL10	HP:0002540	Inability to walk	HP:0040283	ORPHA:459070
6134	RPL10	HP:0002515	Waddling gait	54/102	OMIM:131300
6134	RPL10	HP:0012033	Sacral lipoma	HP:0040282	ORPHA:435938
6134	RPL10	HP:0012032	Lipoma	HP:0040283	ORPHA:459070
6134	RPL10	HP:0001382	Joint hypermobility	-	OMIM:615777
6134	RPL10	HP:0000047	Hypospadias	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000047	Hypospadias	2/3	OMIM:300998
6134	RPL10	HP:0000047	Hypospadias	HP:0040282	ORPHA:435938
6134	RPL10	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000023	Inguinal hernia	1/2	OMIM:300998
6134	RPL10	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6134	RPL10	HP:0000028	Cryptorchidism	1/2	OMIM:300998
6134	RPL10	HP:0000028	Cryptorchidism	HP:0040280	ORPHA:435938
6134	RPL10	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:459070
6134	RPL10	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6134	RPL10	HP:0008872	Feeding difficulties in infancy	1/4	OMIM:300998
6134	RPL10	HP:0008850	Severe postnatal growth retardation	HP:0040280	ORPHA:435938
6134	RPL10	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6134	RPL10	HP:0001324	Muscle weakness	40/96	OMIM:131300
6134	RPL10	HP:0002655	Spondyloepiphyseal dysplasia	2/2	OMIM:300998
6134	RPL10	HP:0002655	Spondyloepiphyseal dysplasia	HP:0040282	ORPHA:459070
6134	RPL10	HP:0001344	Absent speech	HP:0040282	ORPHA:459070
6134	RPL10	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6134	RPL10	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6134	RPL10	HP:0001337	Tremor	1/4	OMIM:300998
6134	RPL10	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6134	RPL10	HP:0002650	Scoliosis	1/2	OMIM:300998
6134	RPL10	HP:0002650	Scoliosis	HP:0040282	ORPHA:459070
6134	RPL10	HP:0002650	Scoliosis	12/14	OMIM:131300
6134	RPL10	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:459070
6134	RPL10	HP:0001321	Cerebellar hypoplasia	2/2	OMIM:300998
6134	RPL10	HP:0001319	Neonatal hypotonia	1/2	OMIM:300998
6134	RPL10	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6134	RPL10	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6134	RPL10	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6134	RPL10	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6134	RPL10	HP:0000160	Narrow mouth	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000160	Narrow mouth	1/4	OMIM:300998
6134	RPL10	HP:0000175	Cleft palate	2/7	OMIM:615777
6134	RPL10	HP:0008947	Floppy infant	HP:0040282	ORPHA:459070
6134	RPL10	HP:0001419	X-linked recessive inheritance	-	OMIM:300998
6134	RPL10	HP:0002719	Recurrent infections	HP:0040283	ORPHA:459070
6134	RPL10	HP:0002719	Recurrent infections	3/3	OMIM:300998
6134	RPL10	HP:0002719	Recurrent infections	HP:0040280	ORPHA:435938
6134	RPL10	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:459070
6134	RPL10	HP:0002020	Gastroesophageal reflux	4/7	OMIM:300998
6134	RPL10	HP:0002020	Gastroesophageal reflux	HP:0040280	ORPHA:435938
6134	RPL10	HP:0004626	Lumbar scoliosis	1/2	OMIM:300998
6134	RPL10	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:459070
6134	RPL10	HP:0002066	Gait ataxia	2/2	OMIM:300998
6134	RPL10	HP:0003388	Easy fatigability	36/76	OMIM:131300
6134	RPL10	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6134	RPL10	HP:0011787	Central hypothyroidism	1/2	OMIM:300998
6134	RPL10	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/3	OMIM:300998
6134	RPL10	HP:0003577	Congenital onset	1/4	OMIM:300998
6134	RPL10	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:435938
6134	RPL10	HP:0010621	Cutaneous syndactyly of toes	1/4	OMIM:300998
6134	RPL10	HP:0003510	Severe short stature	7/7	OMIM:615777
6134	RPL10	HP:0002359	Frequent falls	1/4	OMIM:300998
6134	RPL10	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/4	OMIM:300998
6134	RPL10	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:459070
6134	RPL10	HP:0001007	Hirsutism	HP:0040283	ORPHA:459070
6134	RPL10	HP:0002315	Headache	-	OMIM:131300
6134	RPL10	HP:0004976	Knee dislocation	6/7	OMIM:615777
6134	RPL10	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:459070
6134	RPL10	HP:0009803	Short phalanx of finger	-	OMIM:615777
6134	RPL10	HP:0009796	Branchial cyst	HP:0040282	ORPHA:435938
6134	RPL10	HP:0009763	Limb pain	63/92	OMIM:131300
6134	RPL10	HP:0003621	Juvenile onset	-	OMIM:131300
6134	RPL10	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6134	RPL10	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:459070
6134	RPL10	HP:0004209	Clinodactyly of the 5th finger	1/4	OMIM:300998
6134	RPL10	HP:0034042	Dorsal hirsutism	1/4	OMIM:300998
6134	RPL10	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6134	RPL10	HP:6001056	Out-toeing	-	OMIM:131300
6134	RPL10	HP:0000651	Diplopia	-	OMIM:131300
6134	RPL10	HP:0001956	Truncal obesity	2/7	OMIM:615777
6134	RPL10	HP:0001903	Anemia	HP:0040283	OMIM:131300
6134	RPL10	HP:0010049	Short metacarpal	-	OMIM:615777
6134	RPL10	HP:0000678	Dental crowding	1/3	OMIM:300998
6134	RPL10	HP:0000678	Dental crowding	-	OMIM:615777
6134	RPL10	HP:0000678	Dental crowding	HP:0040282	ORPHA:435938
6134	RPL10	HP:0000670	Carious teeth	-	OMIM:131300
6134	RPL10	HP:0011304	Broad thumb	2/7	OMIM:615777
6134	RPL10	HP:0000668	Hypodontia	-	OMIM:615777
6134	RPL10	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:459070
6134	RPL10	HP:0001999	Abnormal facial shape	HP:0040280	ORPHA:435938
6134	RPL10	HP:0000664	Synophrys	-	OMIM:615777
6134	RPL10	HP:0004322	Short stature	1/4	OMIM:300998
6134	RPL10	HP:0004396	Poor appetite	-	OMIM:131300
6134	RPL10	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6134	RPL10	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6134	RPL10	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6134	RPL10	HP:0003026	Short long bone	7/7	OMIM:615777
6134	RPL10	HP:0031936	Delayed ability to walk	1/2	OMIM:300998
6134	RPL10	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6134	RPL10	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6134	RPL10	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6134	RPL10	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6134	RPL10	HP:0000750	Delayed speech and language development	5/6	OMIM:300998
6134	RPL10	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:459070
6134	RPL10	HP:0000750	Delayed speech and language development	-	OMIM:615777
6134	RPL10	HP:0000717	Autism	HP:0040282	ORPHA:459070
6134	RPL10	HP:0011461	Fetal onset	3/4	OMIM:300998
6134	RPL10	HP:0011461	Fetal onset	7/7	OMIM:615777
6134	RPL10	HP:0000774	Narrow chest	2/7	OMIM:615777
6134	RPL10	HP:0005750	Lower-limb joint contracture	HP:0040283	ORPHA:459070
6134	RPL10	HP:0004415	Pulmonary artery stenosis	1/3	OMIM:300998
6134	RPL10	HP:0004415	Pulmonary artery stenosis	HP:0040283	ORPHA:459070
6134	RPL10	HP:0004415	Pulmonary artery stenosis	HP:0040282	ORPHA:435938
6134	RPL10	HP:0005709	2-3 toe cutaneous syndactyly	2/3	OMIM:300998
6134	RPL10	HP:0000926	Platyspondyly	1/7	OMIM:615777
6134	RPL10	HP:0003180	Flat acetabular roof	-	OMIM:615777
6134	RPL10	HP:0004482	Relative macrocephaly	-	OMIM:615777
6134	RPL10	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6134	RPL10	HP:0012811	Wide nasal ridge	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000823	Delayed puberty	-	OMIM:131300
6134	RPL10	HP:0000823	Delayed puberty	HP:0040283	ORPHA:459070
6134	RPL10	HP:0040080	Anteverted ears	HP:0040282	ORPHA:459070
6134	RPL10	HP:0000894	Short clavicles	-	OMIM:615777
6134	RPL10	HP:0030891	Periventricular white matter hyperintensities	1/4	OMIM:300998
6134	RPL10	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6134	RPL10	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000954	Single transverse palmar crease	3/7	OMIM:300998
6134	RPL10	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6134	RPL10	HP:0000954	Single transverse palmar crease	HP:0040282	ORPHA:435938
6134	RPL10	HP:0000960	Sacral dimple	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000939	Osteoporosis	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000939	Osteoporosis	1/2	OMIM:300998
6134	RPL10	HP:0045025	Narrow palpebral fissure	HP:0040283	ORPHA:459070
6134	RPL10	HP:0009381	Short finger	1/4	OMIM:300998
6134	RPL10	HP:0009381	Short finger	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000286	Epicanthus	1/4	OMIM:300998
6134	RPL10	HP:0000286	Epicanthus	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000286	Epicanthus	1/7	OMIM:615777
6134	RPL10	HP:0000280	Coarse facial features	2/7	OMIM:615777
6134	RPL10	HP:0000276	Long face	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000268	Dolichocephaly	3/4	OMIM:300998
6134	RPL10	HP:0006466	Ankle flexion contracture	HP:0040282	ORPHA:435938
6134	RPL10	HP:0002827	Hip dislocation	3/7	OMIM:615777
6134	RPL10	HP:0006380	Knee flexion contracture	HP:0040282	ORPHA:435938
6134	RPL10	HP:0000252	Microcephaly	HP:0040280	ORPHA:435938
6134	RPL10	HP:0000252	Microcephaly	5/7	OMIM:300998
6134	RPL10	HP:0000252	Microcephaly	HP:0040282	ORPHA:459070
6134	RPL10	HP:0000252	Microcephaly	-	OMIM:615777
6134	RPL10	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000219	Thin upper lip vermilion	1/3	OMIM:300998
6134	RPL10	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:435938
6134	RPL10	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:459070
6134	RPL10	HP:0001561	Polyhydramnios	3/4	OMIM:300998
6134	RPL10	HP:0000232	Everted lower lip vermilion	HP:0040283	ORPHA:459070
6134	RPL10	HP:0002857	Genu valgum	-	OMIM:131300
6134	RPL10	HP:0001533	Slender build	-	OMIM:131300
6134	RPL10	HP:0001511	Intrauterine growth retardation	1/2	OMIM:300998
6134	RPL10	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6134	RPL10	HP:0001510	Growth delay	HP:0040282	ORPHA:459070
6134	RPL10	HP:0001510	Growth delay	4/5	OMIM:300998
6134	RPL10	HP:0007807	Optic nerve compression	-	OMIM:131300
6134	RPL10	HP:0012385	Camptodactyly	HP:0040282	ORPHA:435938
6134	RPL10	HP:0012368	Flat face	7/7	OMIM:615777
6134	RPL10	HP:0031535	Increased theta frequency activity in EEG	HP:0040283	ORPHA:459070
6134	RPL10	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6134	RPL10	HP:0001601	Laryngomalacia	1/3	OMIM:300998
6134	RPL10	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:459070
6134	RPL10	HP:0001601	Laryngomalacia	HP:0040282	ORPHA:435938
6134	RPL10	HP:0000365	Hearing impairment	2/3	OMIM:300998
6134	RPL10	HP:0000365	Hearing impairment	10/67	OMIM:131300
6134	RPL10	HP:0011003	High myopia	1/4	OMIM:300998
6134	RPL10	HP:0000369	Low-set ears	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000343	Long philtrum	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000343	Long philtrum	2/2	OMIM:300998
6134	RPL10	HP:0000343	Long philtrum	1/7	OMIM:615777
6134	RPL10	HP:0011001	Increased bone mineral density	-	OMIM:131300
6134	RPL10	HP:0000337	Broad forehead	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000319	Smooth philtrum	3/4	OMIM:300998
6134	RPL10	HP:0000311	Round face	2/7	OMIM:615777
6134	RPL10	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:459070
6134	RPL10	HP:0001629	Ventricular septal defect	1/3	OMIM:300998
6134	RPL10	HP:0001622	Premature birth	1/3	OMIM:300998
6134	RPL10	HP:0002970	Genu varum	-	OMIM:615777
6134	RPL10	HP:0000308	Microretrognathia	1/2	OMIM:300998
6134	RPL10	HP:0000308	Microretrognathia	HP:0040283	ORPHA:459070
6134	RPL10	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:459070
6134	RPL10	HP:0001631	Atrial septal defect	1/3	OMIM:300998
6134	RPL10	HP:0000303	Mandibular prognathia	-	OMIM:131300
6134	RPL10	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:459070
6134	RPL10	HP:0000303	Mandibular prognathia	3/3	OMIM:300998
6134	RPL10	HP:0000303	Mandibular prognathia	HP:0040280	ORPHA:435938
6134	RPL10	HP:0006698	Dilatation of the ventricular cavity	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:435938
6134	RPL10	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000400	Macrotia	HP:0040282	ORPHA:459070
6134	RPL10	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6134	RPL10	HP:0000470	Short neck	1/7	OMIM:615777
6134	RPL10	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:459070
6134	RPL10	HP:0001769	Broad foot	1/4	OMIM:300998
6134	RPL10	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6134	RPL10	HP:0001763	Pes planus	1/7	OMIM:615777
6134	RPL10	HP:0000411	Protruding ear	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000411	Protruding ear	4/9	OMIM:300998
6134	RPL10	HP:0000411	Protruding ear	HP:0040282	ORPHA:435938
6134	RPL10	HP:0000431	Wide nasal bridge	1/4	OMIM:300998
6134	RPL10	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000510	Rod-cone dystrophy	1/2	OMIM:300998
6134	RPL10	HP:0001840	Metatarsus adductus	-	OMIM:615777
6134	RPL10	HP:0000520	Proptosis	2/4	OMIM:131300
6134	RPL10	HP:0000520	Proptosis	7/7	OMIM:615777
6134	RPL10	HP:0011234	Absent antihelix	1/2	OMIM:300998
6134	RPL10	HP:0000577	Exotropia	HP:0040283	ORPHA:459070
6134	RPL10	HP:0000592	Blue sclerae	2/7	OMIM:615777
6134	RPL10	HP:0000540	Hypermetropia	1/2	OMIM:300998
6134	RPL10	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6134	RPL10	HP:0012514	Lower limb pain	4/4	OMIM:131300
6134	RPL10	HP:0012520	Dilation of Virchow-Robin spaces	1/4	OMIM:300998
6134	RPL10	HP:0000545	Myopia	HP:0040283	ORPHA:459070
6135	RPL11	HP:0025116	Fetal distress	-	OMIM:612562
6135	RPL11	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6135	RPL11	HP:0001199	Triphalangeal thumb	-	OMIM:612562
6135	RPL11	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6135	RPL11	HP:0008551	Microtia	HP:0040284	ORPHA:124
6135	RPL11	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6135	RPL11	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6135	RPL11	HP:0000085	Horseshoe kidney	HP:0040283	OMIM:612562
6135	RPL11	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6135	RPL11	HP:0000076	Vesicoureteral reflux	HP:0040283	OMIM:612562
6135	RPL11	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6135	RPL11	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6135	RPL11	HP:0000006	Autosomal dominant inheritance	-	OMIM:612562
6135	RPL11	HP:0002650	Scoliosis	-	OMIM:612562
6135	RPL11	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6135	RPL11	HP:0000175	Cleft palate	-	OMIM:612562
6135	RPL11	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6135	RPL11	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6135	RPL11	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6135	RPL11	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6135	RPL11	HP:0002719	Recurrent infections	-	OMIM:612562
6135	RPL11	HP:0100512	Decreased circulating vitamin D concentration	-	OMIM:612562
6135	RPL11	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6135	RPL11	HP:0010487	Small hypothenar eminence	-	OMIM:612562
6135	RPL11	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6135	RPL11	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6135	RPL11	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6135	RPL11	HP:0100633	Esophagitis	-	OMIM:612562
6135	RPL11	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6135	RPL11	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6135	RPL11	HP:0009778	Short thumb	-	OMIM:612562
6135	RPL11	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6135	RPL11	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6135	RPL11	HP:0005518	Increased mean corpuscular volume	-	OMIM:612562
6135	RPL11	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6135	RPL11	HP:0001972	Macrocytic anemia	-	OMIM:612562
6135	RPL11	HP:0004322	Short stature	HP:0040283	ORPHA:124
6135	RPL11	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6135	RPL11	HP:0000912	Sprengel anomaly	-	OMIM:612562
6135	RPL11	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6135	RPL11	HP:0000980	Pallor	HP:0040282	ORPHA:124
6135	RPL11	HP:0000939	Osteoporosis	-	OMIM:612562
6135	RPL11	HP:0000938	Osteopenia	-	OMIM:612562
6135	RPL11	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6135	RPL11	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6135	RPL11	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6135	RPL11	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6135	RPL11	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6135	RPL11	HP:0000218	High palate	HP:0040283	ORPHA:124
6135	RPL11	HP:0001561	Polyhydramnios	-	OMIM:612562
6135	RPL11	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6135	RPL11	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6135	RPL11	HP:0001511	Intrauterine growth retardation	-	OMIM:612562
6135	RPL11	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6135	RPL11	HP:0001510	Growth delay	-	OMIM:612562
6135	RPL11	HP:0000365	Hearing impairment	-	OMIM:612562
6135	RPL11	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6135	RPL11	HP:0001684	Secundum atrial septal defect	-	OMIM:612562
6135	RPL11	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6135	RPL11	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6135	RPL11	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6135	RPL11	HP:0001643	Patent ductus arteriosus	-	OMIM:612562
6135	RPL11	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6135	RPL11	HP:0001629	Ventricular septal defect	-	OMIM:612562
6135	RPL11	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6135	RPL11	HP:0001636	Tetralogy of Fallot	HP:0040283	OMIM:612562
6135	RPL11	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6135	RPL11	HP:0000403	Recurrent otitis media	-	OMIM:612562
6135	RPL11	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6135	RPL11	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6135	RPL11	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6135	RPL11	HP:0000470	Short neck	HP:0040283	ORPHA:124
6135	RPL11	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6135	RPL11	HP:0000453	Choanal atresia	-	OMIM:612562
6135	RPL11	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6135	RPL11	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6135	RPL11	HP:0000413	Atresia of the external auditory canal	-	OMIM:612562
6135	RPL11	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6135	RPL11	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6135	RPL11	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6135	RPL11	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6135	RPL11	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6135	RPL11	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6135	RPL11	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6135	RPL11	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6135	RPL11	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6135	RPL11	HP:0001875	Decreased total neutrophil count	-	OMIM:612562
6135	RPL11	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6137	RPL13	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6137	RPL13	HP:0001293	Cranial nerve compression	-	OMIM:131300
6137	RPL13	HP:0001252	Hypotonia	2/7	OMIM:615777
6137	RPL13	HP:0001249	Intellectual disability	5/7	OMIM:615777
6137	RPL13	HP:0001263	Global developmental delay	-	OMIM:615777
6137	RPL13	HP:0003850	Upper-limb metaphyseal irregularity	-	OMIM:618728
6137	RPL13	HP:0002515	Waddling gait	54/102	OMIM:131300
6137	RPL13	HP:0001382	Joint hypermobility	-	OMIM:615777
6137	RPL13	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6137	RPL13	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6137	RPL13	HP:0008897	Postnatal growth retardation	-	OMIM:618728
6137	RPL13	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6137	RPL13	HP:0001324	Muscle weakness	40/96	OMIM:131300
6137	RPL13	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6137	RPL13	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6137	RPL13	HP:0000006	Autosomal dominant inheritance	-	OMIM:618728
6137	RPL13	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6137	RPL13	HP:0002650	Scoliosis	1/4	OMIM:618728
6137	RPL13	HP:0002650	Scoliosis	12/14	OMIM:131300
6137	RPL13	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6137	RPL13	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6137	RPL13	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6137	RPL13	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6137	RPL13	HP:0000175	Cleft palate	2/7	OMIM:615777
6137	RPL13	HP:0003388	Easy fatigability	36/76	OMIM:131300
6137	RPL13	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6137	RPL13	HP:0003510	Severe short stature	7/7	OMIM:615777
6137	RPL13	HP:0003510	Severe short stature	4/4	OMIM:618728
6137	RPL13	HP:0002315	Headache	-	OMIM:131300
6137	RPL13	HP:0004976	Knee dislocation	6/7	OMIM:615777
6137	RPL13	HP:0009803	Short phalanx of finger	-	OMIM:615777
6137	RPL13	HP:0009763	Limb pain	63/92	OMIM:131300
6137	RPL13	HP:0003621	Juvenile onset	-	OMIM:131300
6137	RPL13	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6137	RPL13	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6137	RPL13	HP:6001056	Out-toeing	-	OMIM:131300
6137	RPL13	HP:0000651	Diplopia	-	OMIM:131300
6137	RPL13	HP:0001956	Truncal obesity	2/7	OMIM:615777
6137	RPL13	HP:0001903	Anemia	HP:0040283	OMIM:131300
6137	RPL13	HP:0001903	Anemia	0/4	OMIM:618728
6137	RPL13	HP:0010049	Short metacarpal	-	OMIM:615777
6137	RPL13	HP:0000678	Dental crowding	-	OMIM:615777
6137	RPL13	HP:0000670	Carious teeth	-	OMIM:131300
6137	RPL13	HP:0011304	Broad thumb	2/7	OMIM:615777
6137	RPL13	HP:0000668	Hypodontia	-	OMIM:615777
6137	RPL13	HP:0000664	Synophrys	-	OMIM:615777
6137	RPL13	HP:0003051	Enlarged metaphyses	-	OMIM:618728
6137	RPL13	HP:0004396	Poor appetite	-	OMIM:131300
6137	RPL13	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6137	RPL13	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6137	RPL13	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6137	RPL13	HP:0003026	Short long bone	7/7	OMIM:615777
6137	RPL13	HP:0003026	Short long bone	4/4	OMIM:618728
6137	RPL13	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6137	RPL13	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6137	RPL13	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6137	RPL13	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6137	RPL13	HP:0000750	Delayed speech and language development	-	OMIM:615777
6137	RPL13	HP:0011461	Fetal onset	7/7	OMIM:615777
6137	RPL13	HP:0000774	Narrow chest	2/7	OMIM:615777
6137	RPL13	HP:0000926	Platyspondyly	1/7	OMIM:615777
6137	RPL13	HP:0000926	Platyspondyly	4/4	OMIM:618728
6137	RPL13	HP:0003180	Flat acetabular roof	-	OMIM:615777
6137	RPL13	HP:0004482	Relative macrocephaly	-	OMIM:615777
6137	RPL13	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6137	RPL13	HP:0000823	Delayed puberty	-	OMIM:131300
6137	RPL13	HP:0000894	Short clavicles	-	OMIM:615777
6137	RPL13	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6137	RPL13	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6137	RPL13	HP:0000286	Epicanthus	1/7	OMIM:615777
6137	RPL13	HP:0000280	Coarse facial features	2/7	OMIM:615777
6137	RPL13	HP:0002812	Coxa vara	4/4	OMIM:618728
6137	RPL13	HP:0002827	Hip dislocation	3/7	OMIM:615777
6137	RPL13	HP:0006361	Irregular femoral epiphysis	-	OMIM:618728
6137	RPL13	HP:0000252	Microcephaly	-	OMIM:615777
6137	RPL13	HP:0002857	Genu valgum	-	OMIM:131300
6137	RPL13	HP:0001533	Slender build	-	OMIM:131300
6137	RPL13	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6137	RPL13	HP:0007807	Optic nerve compression	-	OMIM:131300
6137	RPL13	HP:0012368	Flat face	7/7	OMIM:615777
6137	RPL13	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6137	RPL13	HP:0000365	Hearing impairment	10/67	OMIM:131300
6137	RPL13	HP:0000343	Long philtrum	1/7	OMIM:615777
6137	RPL13	HP:0011001	Increased bone mineral density	-	OMIM:131300
6137	RPL13	HP:0000311	Round face	2/7	OMIM:615777
6137	RPL13	HP:0002970	Genu varum	4/4	OMIM:618728
6137	RPL13	HP:0002970	Genu varum	-	OMIM:615777
6137	RPL13	HP:0000303	Mandibular prognathia	-	OMIM:131300
6137	RPL13	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6137	RPL13	HP:0000470	Short neck	1/7	OMIM:615777
6137	RPL13	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6137	RPL13	HP:0001763	Pes planus	1/7	OMIM:615777
6137	RPL13	HP:0030291	Lower-limb metaphyseal irregularity	-	OMIM:618728
6137	RPL13	HP:0001840	Metatarsus adductus	-	OMIM:615777
6137	RPL13	HP:0000520	Proptosis	2/4	OMIM:131300
6137	RPL13	HP:0000520	Proptosis	7/7	OMIM:615777
6137	RPL13	HP:0000592	Blue sclerae	2/7	OMIM:615777
6137	RPL13	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6137	RPL13	HP:0012514	Lower limb pain	4/4	OMIM:131300
6138	RPL15	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6138	RPL15	HP:0001199	Triphalangeal thumb	1/1	OMIM:615550
6138	RPL15	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6138	RPL15	HP:0008551	Microtia	HP:0040284	ORPHA:124
6138	RPL15	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6138	RPL15	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6138	RPL15	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6138	RPL15	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6138	RPL15	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6138	RPL15	HP:0000006	Autosomal dominant inheritance	-	OMIM:615550
6138	RPL15	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6138	RPL15	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6138	RPL15	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6138	RPL15	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6138	RPL15	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6138	RPL15	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6138	RPL15	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6138	RPL15	HP:0003577	Congenital onset	1/1	OMIM:615550
6138	RPL15	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6138	RPL15	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6138	RPL15	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6138	RPL15	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6138	RPL15	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6138	RPL15	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6138	RPL15	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6138	RPL15	HP:0001972	Macrocytic anemia	1/1	OMIM:615550
6138	RPL15	HP:0004322	Short stature	HP:0040283	ORPHA:124
6138	RPL15	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6138	RPL15	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6138	RPL15	HP:0000980	Pallor	HP:0040282	ORPHA:124
6138	RPL15	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6138	RPL15	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6138	RPL15	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6138	RPL15	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6138	RPL15	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6138	RPL15	HP:0000218	High palate	HP:0040283	ORPHA:124
6138	RPL15	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6138	RPL15	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6138	RPL15	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6138	RPL15	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6138	RPL15	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6138	RPL15	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6138	RPL15	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6138	RPL15	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6138	RPL15	HP:0001629	Ventricular septal defect	1/1	OMIM:615550
6138	RPL15	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6138	RPL15	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6138	RPL15	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6138	RPL15	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6138	RPL15	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6138	RPL15	HP:0000470	Short neck	HP:0040283	ORPHA:124
6138	RPL15	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6138	RPL15	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6138	RPL15	HP:0030270	Elevated red cell adenosine deaminase activity	1/1	OMIM:615550
6138	RPL15	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6138	RPL15	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6138	RPL15	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6138	RPL15	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6138	RPL15	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6138	RPL15	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6138	RPL15	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6138	RPL15	HP:0001896	Reticulocytopenia	1/1	OMIM:615550
6138	RPL15	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6138	RPL15	HP:0001895	Normochromic anemia	1/1	OMIM:615550
6138	RPL15	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6138	RPL15	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6138	RPL15	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6141	RPL18	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6141	RPL18	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6141	RPL18	HP:0008551	Microtia	HP:0040284	ORPHA:124
6141	RPL18	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6141	RPL18	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6141	RPL18	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6141	RPL18	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6141	RPL18	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6141	RPL18	HP:0000006	Autosomal dominant inheritance	-	OMIM:618310
6141	RPL18	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6141	RPL18	HP:0012139	Granulocytic hypoplasia	2/2	OMIM:618310
6141	RPL18	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6141	RPL18	HP:0012133	Erythroid hypoplasia	2/2	OMIM:618310
6141	RPL18	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6141	RPL18	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6141	RPL18	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6141	RPL18	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6141	RPL18	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6141	RPL18	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6141	RPL18	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6141	RPL18	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6141	RPL18	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6141	RPL18	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6141	RPL18	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6141	RPL18	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6141	RPL18	HP:0004322	Short stature	HP:0040283	ORPHA:124
6141	RPL18	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6141	RPL18	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6141	RPL18	HP:0033074	Steroid-responsive anemia	2/2	OMIM:618310
6141	RPL18	HP:0000980	Pallor	HP:0040282	ORPHA:124
6141	RPL18	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6141	RPL18	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6141	RPL18	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6141	RPL18	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6141	RPL18	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6141	RPL18	HP:0000218	High palate	HP:0040283	ORPHA:124
6141	RPL18	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6141	RPL18	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6141	RPL18	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6141	RPL18	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6141	RPL18	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6141	RPL18	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6141	RPL18	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6141	RPL18	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6141	RPL18	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6141	RPL18	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6141	RPL18	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6141	RPL18	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6141	RPL18	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6141	RPL18	HP:0000470	Short neck	HP:0040283	ORPHA:124
6141	RPL18	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6141	RPL18	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6141	RPL18	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6141	RPL18	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6141	RPL18	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6141	RPL18	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6141	RPL18	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6141	RPL18	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6141	RPL18	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6141	RPL18	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6141	RPL18	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6141	RPL18	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6141	RPL18	HP:0001875	Decreased total neutrophil count	2/2	OMIM:618310
6141	RPL18	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6144	RPL21	HP:0100840	Aplasia/Hypoplasia of the eyebrow	10/13	OMIM:615885
6144	RPL21	HP:0000006	Autosomal dominant inheritance	-	OMIM:615885
6144	RPL21	HP:0000164	Abnormality of the dentition	0/13	OMIM:615885
6144	RPL21	HP:0003593	Infantile onset	13/13	OMIM:615885
6144	RPL21	HP:0200102	Sparse or absent eyelashes	12/13	OMIM:615885
6144	RPL21	HP:0002217	Slow-growing hair	-	OMIM:615885
6144	RPL21	HP:0002215	Sparse axillary hair	12/13	OMIM:615885
6144	RPL21	HP:0002231	Sparse body hair	HP:0040281	ORPHA:55654
6144	RPL21	HP:0002225	Sparse pubic hair	10/12	OMIM:615885
6144	RPL21	HP:0002209	Sparse scalp hair	13/13	OMIM:615885
6144	RPL21	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:55654
6144	RPL21	HP:0011359	Dry hair	13/13	OMIM:615885
6144	RPL21	HP:0000653	Sparse eyelashes	HP:0040281	ORPHA:55654
6144	RPL21	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:55654
6144	RPL21	HP:0000971	Abnormal sweat gland morphology	0/13	OMIM:615885
6144	RPL21	HP:0000951	Abnormality of the skin	0/13	OMIM:615885
6144	RPL21	HP:0008070	Sparse hair	HP:0040282	ORPHA:55654
6144	RPL21	HP:0001597	Abnormal nail morphology	0/13	OMIM:615885
6144	RPL21	HP:0001596	Alopecia	HP:0040281	ORPHA:55654
6154	RPL26	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6154	RPL26	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6154	RPL26	HP:0008551	Microtia	HP:0040284	ORPHA:124
6154	RPL26	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6154	RPL26	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6154	RPL26	HP:0010972	Anemia of inadequate production	1/1	OMIM:614900
6154	RPL26	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6154	RPL26	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6154	RPL26	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6154	RPL26	HP:0000006	Autosomal dominant inheritance	-	OMIM:614900
6154	RPL26	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6154	RPL26	HP:0012139	Granulocytic hypoplasia	1/1	OMIM:614900
6154	RPL26	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6154	RPL26	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6154	RPL26	HP:0000122	Unilateral renal agenesis	1/1	OMIM:614900
6154	RPL26	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6154	RPL26	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6154	RPL26	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6154	RPL26	HP:0011908	Unilateral radial aplasia	1/1	OMIM:614900
6154	RPL26	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6154	RPL26	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6154	RPL26	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6154	RPL26	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6154	RPL26	HP:0009777	Absent thumb	1/1	OMIM:614900
6154	RPL26	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6154	RPL26	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6154	RPL26	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6154	RPL26	HP:0005528	Bone marrow hypocellularity	1/1	OMIM:614900
6154	RPL26	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6154	RPL26	HP:0000625	Eyelid coloboma	1/1	OMIM:614900
6154	RPL26	HP:0004322	Short stature	HP:0040283	ORPHA:124
6154	RPL26	HP:0004322	Short stature	1/1	OMIM:614900
6154	RPL26	HP:0034197	Third trimester onset	1/1	OMIM:614900
6154	RPL26	HP:0003022	Hypoplasia of the ulna	1/1	OMIM:614900
6154	RPL26	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6154	RPL26	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6154	RPL26	HP:0100337	Bilateral cleft palate	1/1	OMIM:614900
6154	RPL26	HP:0000980	Pallor	HP:0040282	ORPHA:124
6154	RPL26	HP:0009380	Finger aplasia	1/1	OMIM:614900
6154	RPL26	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6154	RPL26	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6154	RPL26	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6154	RPL26	HP:0006368	Forearm reduction defects	1/1	OMIM:614900
6154	RPL26	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6154	RPL26	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6154	RPL26	HP:0000218	High palate	HP:0040283	ORPHA:124
6154	RPL26	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6154	RPL26	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6154	RPL26	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6154	RPL26	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6154	RPL26	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6154	RPL26	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6154	RPL26	HP:0001647	Bicuspid aortic valve	1/1	OMIM:614900
6154	RPL26	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6154	RPL26	HP:0002974	Radioulnar synostosis	1/1	OMIM:614900
6154	RPL26	HP:0002984	Hypoplasia of the radius	1/1	OMIM:614900
6154	RPL26	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6154	RPL26	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6154	RPL26	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6154	RPL26	HP:0000402	Stenosis of the external auditory canal	1/1	OMIM:614900
6154	RPL26	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6154	RPL26	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6154	RPL26	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6154	RPL26	HP:0000470	Short neck	HP:0040283	ORPHA:124
6154	RPL26	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6154	RPL26	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6154	RPL26	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6154	RPL26	HP:0000413	Atresia of the external auditory canal	1/1	OMIM:614900
6154	RPL26	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6154	RPL26	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6154	RPL26	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6154	RPL26	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6154	RPL26	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6154	RPL26	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6154	RPL26	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6154	RPL26	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6154	RPL26	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6154	RPL26	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6154	RPL26	HP:0001875	Decreased total neutrophil count	1/1	OMIM:614900
6155	RPL27	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6155	RPL27	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6155	RPL27	HP:0008551	Microtia	HP:0040284	ORPHA:124
6155	RPL27	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6155	RPL27	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6155	RPL27	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6155	RPL27	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6155	RPL27	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6155	RPL27	HP:0000006	Autosomal dominant inheritance	-	OMIM:617408
6155	RPL27	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6155	RPL27	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6155	RPL27	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6155	RPL27	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6155	RPL27	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6155	RPL27	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6155	RPL27	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6155	RPL27	HP:0003577	Congenital onset	1/1	OMIM:617408
6155	RPL27	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6155	RPL27	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6155	RPL27	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6155	RPL27	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6155	RPL27	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6155	RPL27	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6155	RPL27	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6155	RPL27	HP:0001903	Anemia	1/1	OMIM:617408
6155	RPL27	HP:0004322	Short stature	HP:0040283	ORPHA:124
6155	RPL27	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6155	RPL27	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6155	RPL27	HP:0000980	Pallor	HP:0040282	ORPHA:124
6155	RPL27	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6155	RPL27	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6155	RPL27	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6155	RPL27	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6155	RPL27	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6155	RPL27	HP:0000218	High palate	HP:0040283	ORPHA:124
6155	RPL27	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6155	RPL27	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6155	RPL27	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6155	RPL27	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6155	RPL27	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6155	RPL27	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6155	RPL27	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6155	RPL27	HP:0001642	Pulmonic stenosis	1/1	OMIM:617408
6155	RPL27	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6155	RPL27	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6155	RPL27	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6155	RPL27	HP:0001631	Atrial septal defect	1/1	OMIM:617408
6155	RPL27	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6155	RPL27	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6155	RPL27	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6155	RPL27	HP:0000470	Short neck	HP:0040283	ORPHA:124
6155	RPL27	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6155	RPL27	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6155	RPL27	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6155	RPL27	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6155	RPL27	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6155	RPL27	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6155	RPL27	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6155	RPL27	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6155	RPL27	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6155	RPL27	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6155	RPL27	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6155	RPL27	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6155	RPL27	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6160	RPL31	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6160	RPL31	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6160	RPL31	HP:0008551	Microtia	HP:0040284	ORPHA:124
6160	RPL31	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6160	RPL31	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6160	RPL31	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6160	RPL31	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6160	RPL31	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6160	RPL31	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6160	RPL31	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6160	RPL31	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6160	RPL31	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6160	RPL31	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6160	RPL31	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6160	RPL31	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6160	RPL31	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6160	RPL31	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6160	RPL31	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6160	RPL31	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6160	RPL31	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6160	RPL31	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6160	RPL31	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6160	RPL31	HP:0004322	Short stature	HP:0040283	ORPHA:124
6160	RPL31	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6160	RPL31	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6160	RPL31	HP:0000980	Pallor	HP:0040282	ORPHA:124
6160	RPL31	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6160	RPL31	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6160	RPL31	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6160	RPL31	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6160	RPL31	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6160	RPL31	HP:0000218	High palate	HP:0040283	ORPHA:124
6160	RPL31	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6160	RPL31	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6160	RPL31	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6160	RPL31	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6160	RPL31	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6160	RPL31	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6160	RPL31	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6160	RPL31	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6160	RPL31	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6160	RPL31	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6160	RPL31	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6160	RPL31	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6160	RPL31	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6160	RPL31	HP:0000470	Short neck	HP:0040283	ORPHA:124
6160	RPL31	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6160	RPL31	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6160	RPL31	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6160	RPL31	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6160	RPL31	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6160	RPL31	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6160	RPL31	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6160	RPL31	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6160	RPL31	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6160	RPL31	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6160	RPL31	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6160	RPL31	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6160	RPL31	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6165	RPL35A	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6165	RPL35A	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6165	RPL35A	HP:0008551	Microtia	HP:0040284	ORPHA:124
6165	RPL35A	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6165	RPL35A	HP:0001263	Global developmental delay	-	OMIM:612528
6165	RPL35A	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6165	RPL35A	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6165	RPL35A	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6165	RPL35A	HP:0000047	Hypospadias	-	OMIM:612528
6165	RPL35A	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6165	RPL35A	HP:0000006	Autosomal dominant inheritance	-	OMIM:612528
6165	RPL35A	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6165	RPL35A	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6165	RPL35A	HP:0012133	Erythroid hypoplasia	-	OMIM:612528
6165	RPL35A	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6165	RPL35A	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6165	RPL35A	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6165	RPL35A	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6165	RPL35A	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6165	RPL35A	HP:0003593	Infantile onset	-	OMIM:612528
6165	RPL35A	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6165	RPL35A	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6165	RPL35A	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6165	RPL35A	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6165	RPL35A	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6165	RPL35A	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6165	RPL35A	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6165	RPL35A	HP:0001972	Macrocytic anemia	-	OMIM:612528
6165	RPL35A	HP:0004322	Short stature	-	OMIM:612528
6165	RPL35A	HP:0004322	Short stature	HP:0040283	ORPHA:124
6165	RPL35A	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6165	RPL35A	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6165	RPL35A	HP:0000980	Pallor	HP:0040282	ORPHA:124
6165	RPL35A	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6165	RPL35A	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6165	RPL35A	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6165	RPL35A	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6165	RPL35A	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6165	RPL35A	HP:0000218	High palate	HP:0040283	ORPHA:124
6165	RPL35A	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6165	RPL35A	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6165	RPL35A	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6165	RPL35A	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6165	RPL35A	HP:0000369	Low-set ears	-	OMIM:612528
6165	RPL35A	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6165	RPL35A	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6165	RPL35A	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6165	RPL35A	HP:0000316	Hypertelorism	-	OMIM:612528
6165	RPL35A	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6165	RPL35A	HP:0001629	Ventricular septal defect	-	OMIM:612528
6165	RPL35A	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6165	RPL35A	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6165	RPL35A	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6165	RPL35A	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6165	RPL35A	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6165	RPL35A	HP:0000470	Short neck	HP:0040283	ORPHA:124
6165	RPL35A	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6165	RPL35A	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6165	RPL35A	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6165	RPL35A	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6165	RPL35A	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6165	RPL35A	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6165	RPL35A	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6165	RPL35A	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6165	RPL35A	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6165	RPL35A	HP:0001896	Reticulocytopenia	-	OMIM:612528
6165	RPL35A	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6165	RPL35A	HP:0001882	Decreased total leukocyte count	-	OMIM:612528
6165	RPL35A	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6165	RPL35A	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6165	RPL35A	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6182	MRPL12	HP:0001250	Seizure	1/1	OMIM:618951
6182	MRPL12	HP:0001251	Ataxia	1/1	OMIM:618951
6182	MRPL12	HP:0001263	Global developmental delay	1/1	OMIM:618951
6182	MRPL12	HP:0002500	Abnormal cerebral white matter morphology	1/1	OMIM:618951
6182	MRPL12	HP:0001324	Muscle weakness	1/1	OMIM:618951
6182	MRPL12	HP:0001344	Absent speech	1/1	OMIM:618951
6182	MRPL12	HP:0000007	Autosomal recessive inheritance	-	OMIM:618951
6182	MRPL12	HP:0001337	Tremor	1/1	OMIM:618951
6182	MRPL12	HP:0008936	Axial hypotonia	1/1	OMIM:618951
6182	MRPL12	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:618951
6182	MRPL12	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:618951
6182	MRPL12	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:618951
6182	MRPL12	HP:0000666	Horizontal nystagmus	1/1	OMIM:618951
6182	MRPL12	HP:0000286	Epicanthus	1/1	OMIM:618951
6182	MRPL12	HP:0000218	High palate	1/1	OMIM:618951
6182	MRPL12	HP:0001508	Failure to thrive	1/1	OMIM:618951
6182	MRPL12	HP:0001695	Cardiac arrest	1/1	OMIM:618951
6182	MRPL12	HP:0000369	Low-set ears	1/1	OMIM:618951
6182	MRPL12	HP:0000311	Round face	1/1	OMIM:618951
6182	MRPL12	HP:0000470	Short neck	1/1	OMIM:618951
6197	RPS6KA3	HP:0001176	Large hands	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0001176	Large hands	HP:0040281	ORPHA:276630
6197	RPS6KA3	HP:0001169	Broad palm	-	OMIM:303600
6197	RPS6KA3	HP:0001187	Hyperextensibility of the finger joints	1/1	OMIM:303600
6197	RPS6KA3	HP:0001182	Tapered finger	1/1	OMIM:303600
6197	RPS6KA3	HP:0001182	Tapered finger	HP:0040281	ORPHA:276630
6197	RPS6KA3	HP:0001182	Tapered finger	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0009928	Thick nasal alae	1/1	OMIM:303600
6197	RPS6KA3	HP:0009928	Thick nasal alae	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0003745	Sporadic	-	OMIM:303600
6197	RPS6KA3	HP:0001276	Hypertonia	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0001270	Motor delay	1/6	OMIM:300844
6197	RPS6KA3	HP:0001288	Gait disturbance	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0001256	Intellectual disability, mild	2/2	OMIM:300844
6197	RPS6KA3	HP:0001250	Seizure	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0001250	Seizure	-	OMIM:303600
6197	RPS6KA3	HP:0001250	Seizure	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0001252	Hypotonia	2/6	OMIM:300844
6197	RPS6KA3	HP:0001252	Hypotonia	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0001252	Hypotonia	-	OMIM:303600
6197	RPS6KA3	HP:0001252	Hypotonia	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0001249	Intellectual disability	5/6	OMIM:300844
6197	RPS6KA3	HP:0001249	Intellectual disability	1/1	OMIM:303600
6197	RPS6KA3	HP:0001249	Intellectual disability	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0001263	Global developmental delay	1/1	OMIM:303600
6197	RPS6KA3	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0002553	Highly arched eyebrow	-	OMIM:303600
6197	RPS6KA3	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0000023	Inguinal hernia	-	OMIM:303600
6197	RPS6KA3	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0002684	Thickened calvaria	-	OMIM:303600
6197	RPS6KA3	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0006129	Drumstick terminal phalanges	-	OMIM:303600
6197	RPS6KA3	HP:0001324	Muscle weakness	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0002673	Coxa valga	-	OMIM:303600
6197	RPS6KA3	HP:0002650	Scoliosis	-	OMIM:303600
6197	RPS6KA3	HP:0002650	Scoliosis	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0002650	Scoliosis	4/6	OMIM:300844
6197	RPS6KA3	HP:0002650	Scoliosis	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0000189	Narrow palate	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0000189	Narrow palate	-	OMIM:303600
6197	RPS6KA3	HP:0000179	Thick lower lip vermilion	1/1	OMIM:303600
6197	RPS6KA3	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0000179	Thick lower lip vermilion	5/6	OMIM:300844
6197	RPS6KA3	HP:0000194	Open mouth	-	OMIM:303600
6197	RPS6KA3	HP:0000194	Open mouth	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0001476	Delayed closure of the anterior fontanelle	-	OMIM:303600
6197	RPS6KA3	HP:0000139	Uterine prolapse	-	OMIM:303600
6197	RPS6KA3	HP:0000154	Wide mouth	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0006288	Advanced eruption of teeth	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0001423	X-linked dominant inheritance	-	OMIM:300844
6197	RPS6KA3	HP:0001423	X-linked dominant inheritance	-	OMIM:303600
6197	RPS6KA3	HP:0002751	Kyphoscoliosis	1/6	OMIM:300844
6197	RPS6KA3	HP:0002750	Delayed skeletal maturation	-	OMIM:303600
6197	RPS6KA3	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0001417	X-linked inheritance	-	OMIM:300844
6197	RPS6KA3	HP:0002711	Exaggerated median tongue furrow	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0002035	Rectal prolapse	-	OMIM:303600
6197	RPS6KA3	HP:0002007	Frontal bossing	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0002007	Frontal bossing	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0002119	Ventriculomegaly	1/1	OMIM:303600
6197	RPS6KA3	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0002191	Progressive spasticity	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0010535	Sleep apnea	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0003593	Infantile onset	1/1	OMIM:303600
6197	RPS6KA3	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0002208	Coarse hair	-	OMIM:303600
6197	RPS6KA3	HP:0009746	Thick nasal septum	1/1	OMIM:303600
6197	RPS6KA3	HP:0430043	Thoracic lordosis	4/4	OMIM:303600
6197	RPS6KA3	HP:0001063	Acrocyanosis	-	OMIM:303600
6197	RPS6KA3	HP:0010819	Atonic seizure	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0010761	Broad columella	1/1	OMIM:303600
6197	RPS6KA3	HP:0008454	Lumbar kyphosis	-	OMIM:303600
6197	RPS6KA3	HP:0000648	Optic atrophy	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0010049	Short metacarpal	-	OMIM:303600
6197	RPS6KA3	HP:0010049	Short metacarpal	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0000678	Dental crowding	1/6	OMIM:300844
6197	RPS6KA3	HP:0000674	Anodontia	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0000677	Oligodontia	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0000689	Dental malocclusion	-	OMIM:303600
6197	RPS6KA3	HP:0000687	Widely spaced teeth	-	OMIM:303600
6197	RPS6KA3	HP:0000687	Widely spaced teeth	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0000668	Hypodontia	-	OMIM:303600
6197	RPS6KA3	HP:0000668	Hypodontia	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0004325	Decreased body weight	-	OMIM:303600
6197	RPS6KA3	HP:0004322	Short stature	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0004322	Short stature	1/1	OMIM:303600
6197	RPS6KA3	HP:0004322	Short stature	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0009193	Metacarpal pseudoepiphysis	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0000767	Pectus excavatum	-	OMIM:303600
6197	RPS6KA3	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0000768	Pectus carinatum	-	OMIM:303600
6197	RPS6KA3	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0000768	Pectus carinatum	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0000750	Delayed speech and language development	3/6	OMIM:300844
6197	RPS6KA3	HP:0000716	Depression	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0000709	Psychosis	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0000708	Atypical behavior	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0003196	Short nose	1/1	OMIM:303600
6197	RPS6KA3	HP:0004493	Craniofacial hyperostosis	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0011580	Short chordae tendineae of the mitral valve	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0010309	Bifid sternum	-	OMIM:303600
6197	RPS6KA3	HP:0000973	Cutis laxa	-	OMIM:303600
6197	RPS6KA3	HP:0000954	Single transverse palmar crease	-	OMIM:303600
6197	RPS6KA3	HP:0000965	Cutis marmorata	-	OMIM:303600
6197	RPS6KA3	HP:0000940	Abnormal diaphysis morphology	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0000286	Epicanthus	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0000280	Coarse facial features	-	OMIM:303600
6197	RPS6KA3	HP:0000280	Coarse facial features	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0002808	Kyphosis	-	OMIM:303600
6197	RPS6KA3	HP:0002808	Kyphosis	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0002808	Kyphosis	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0000252	Microcephaly	-	OMIM:303600
6197	RPS6KA3	HP:0000252	Microcephaly	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0001582	Redundant skin	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0000218	High palate	-	OMIM:303600
6197	RPS6KA3	HP:0000218	High palate	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0000232	Everted lower lip vermilion	-	OMIM:303600
6197	RPS6KA3	HP:0000232	Everted lower lip vermilion	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0000232	Everted lower lip vermilion	5/6	OMIM:300844
6197	RPS6KA3	HP:0002868	Narrow iliac wing	-	OMIM:303600
6197	RPS6KA3	HP:0002868	Narrow iliac wing	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0001500	Broad finger	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0001518	Small for gestational age	1/6	OMIM:300844
6197	RPS6KA3	HP:0001513	Obesity	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0011065	Conical incisor	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0006480	Premature loss of teeth	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0006482	Abnormal dental morphology	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0000365	Hearing impairment	1/1	OMIM:303600
6197	RPS6KA3	HP:0000336	Prominent supraorbital ridges	-	OMIM:303600
6197	RPS6KA3	HP:0000316	Hypertelorism	1/1	OMIM:303600
6197	RPS6KA3	HP:0000316	Hypertelorism	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0001653	Mitral regurgitation	-	OMIM:303600
6197	RPS6KA3	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0000303	Mandibular prognathia	-	OMIM:303600
6197	RPS6KA3	HP:0001633	Abnormal mitral valve morphology	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0006692	Short chordae tendineae of the tricuspid valve	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0000407	Sensorineural hearing impairment	-	OMIM:303600
6197	RPS6KA3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0001702	Abnormal tricuspid valve morphology	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0000486	Strabismus	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:303600
6197	RPS6KA3	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0000463	Anteverted nares	-	OMIM:303600
6197	RPS6KA3	HP:0000463	Anteverted nares	HP:0040281	ORPHA:192
6197	RPS6KA3	HP:0000455	Broad nasal tip	4/6	OMIM:300844
6197	RPS6KA3	HP:0001763	Pes planus	-	OMIM:303600
6197	RPS6KA3	HP:0001763	Pes planus	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0000445	Wide nose	-	OMIM:303600
6197	RPS6KA3	HP:0000445	Wide nose	HP:0040283	ORPHA:276630
6197	RPS6KA3	HP:0000445	Wide nose	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0000411	Protruding ear	1/1	OMIM:303600
6197	RPS6KA3	HP:0000411	Protruding ear	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0000518	Cataract	HP:0040283	ORPHA:192
6197	RPS6KA3	HP:0000506	Telecanthus	-	OMIM:303600
6197	RPS6KA3	HP:0001833	Long foot	1/6	OMIM:300844
6197	RPS6KA3	HP:0001804	Hypoplastic fingernail	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0001812	Hyperconvex fingernails	-	OMIM:303600
6197	RPS6KA3	HP:0001812	Hyperconvex fingernails	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0011220	Prominent forehead	1/1	OMIM:303600
6197	RPS6KA3	HP:0011220	Prominent forehead	HP:0040282	ORPHA:192
6197	RPS6KA3	HP:0011220	Prominent forehead	4/6	OMIM:300844
6197	RPS6KA3	HP:0000574	Thick eyebrow	-	OMIM:303600
6201	RPS7	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6201	RPS7	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6201	RPS7	HP:0008551	Microtia	HP:0040284	ORPHA:124
6201	RPS7	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6201	RPS7	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6201	RPS7	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6201	RPS7	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6201	RPS7	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6201	RPS7	HP:0000006	Autosomal dominant inheritance	1/1	OMIM:612563
6201	RPS7	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6201	RPS7	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6201	RPS7	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6201	RPS7	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6201	RPS7	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6201	RPS7	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6201	RPS7	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6201	RPS7	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6201	RPS7	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6201	RPS7	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6201	RPS7	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6201	RPS7	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6201	RPS7	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6201	RPS7	HP:0005518	Increased mean corpuscular volume	1/1	OMIM:612563
6201	RPS7	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6201	RPS7	HP:0001972	Macrocytic anemia	1/1	OMIM:612563
6201	RPS7	HP:0004322	Short stature	-	OMIM:612563
6201	RPS7	HP:0004322	Short stature	HP:0040283	ORPHA:124
6201	RPS7	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6201	RPS7	HP:0003196	Short nose	-	OMIM:612563
6201	RPS7	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6201	RPS7	HP:0000980	Pallor	HP:0040282	ORPHA:124
6201	RPS7	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6201	RPS7	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6201	RPS7	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6201	RPS7	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6201	RPS7	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6201	RPS7	HP:0000218	High palate	HP:0040283	ORPHA:124
6201	RPS7	HP:0000215	Thick upper lip vermilion	-	OMIM:612563
6201	RPS7	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6201	RPS7	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6201	RPS7	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6201	RPS7	HP:0001510	Growth delay	-	OMIM:612563
6201	RPS7	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6201	RPS7	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6201	RPS7	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6201	RPS7	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6201	RPS7	HP:0000316	Hypertelorism	-	OMIM:612563
6201	RPS7	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6201	RPS7	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6201	RPS7	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6201	RPS7	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6201	RPS7	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6201	RPS7	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6201	RPS7	HP:0000470	Short neck	HP:0040283	ORPHA:124
6201	RPS7	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6201	RPS7	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6201	RPS7	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6201	RPS7	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6201	RPS7	HP:0000431	Wide nasal bridge	-	OMIM:612563
6201	RPS7	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6201	RPS7	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6201	RPS7	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6201	RPS7	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6201	RPS7	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6201	RPS7	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6201	RPS7	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6201	RPS7	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6201	RPS7	HP:0001875	Decreased total neutrophil count	-	OMIM:612563
6201	RPS7	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6204	RPS10	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6204	RPS10	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6204	RPS10	HP:0008551	Microtia	HP:0040284	ORPHA:124
6204	RPS10	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6204	RPS10	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6204	RPS10	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6204	RPS10	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6204	RPS10	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6204	RPS10	HP:0000006	Autosomal dominant inheritance	-	OMIM:613308
6204	RPS10	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6204	RPS10	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6204	RPS10	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6204	RPS10	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6204	RPS10	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6204	RPS10	HP:0100512	Decreased circulating vitamin D concentration	-	OMIM:613308
6204	RPS10	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6204	RPS10	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6204	RPS10	HP:0003593	Infantile onset	2/4	OMIM:613308
6204	RPS10	HP:0003577	Congenital onset	1/4	OMIM:613308
6204	RPS10	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6204	RPS10	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6204	RPS10	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6204	RPS10	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6204	RPS10	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6204	RPS10	HP:0003621	Juvenile onset	1/4	OMIM:613308
6204	RPS10	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6204	RPS10	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6204	RPS10	HP:0001903	Anemia	5/5	OMIM:613308
6204	RPS10	HP:0004322	Short stature	HP:0040283	ORPHA:124
6204	RPS10	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6204	RPS10	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6204	RPS10	HP:0000980	Pallor	HP:0040282	ORPHA:124
6204	RPS10	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6204	RPS10	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6204	RPS10	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6204	RPS10	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6204	RPS10	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6204	RPS10	HP:0000218	High palate	HP:0040283	ORPHA:124
6204	RPS10	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6204	RPS10	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6204	RPS10	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6204	RPS10	HP:0001510	Growth delay	-	OMIM:613308
6204	RPS10	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6204	RPS10	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6204	RPS10	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6204	RPS10	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6204	RPS10	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6204	RPS10	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6204	RPS10	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6204	RPS10	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6204	RPS10	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6204	RPS10	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6204	RPS10	HP:0000470	Short neck	HP:0040283	ORPHA:124
6204	RPS10	HP:0000465	Webbed neck	1/5	OMIM:613308
6204	RPS10	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6204	RPS10	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6204	RPS10	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6204	RPS10	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6204	RPS10	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6204	RPS10	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6204	RPS10	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6204	RPS10	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6204	RPS10	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6204	RPS10	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6204	RPS10	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6204	RPS10	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6204	RPS10	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6208	RPS14	HP:0003745	Sporadic	-	OMIM:153550
6208	RPS14	HP:0031035	Chronic infection	HP:0040283	ORPHA:86841
6208	RPS14	HP:0010972	Anemia of inadequate production	-	OMIM:153550
6208	RPS14	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:86841
6208	RPS14	HP:0012148	Multiple lineage myelodysplasia	HP:0040283	ORPHA:86841
6208	RPS14	HP:0012143	Abnormal megakaryocyte morphology	HP:0040282	ORPHA:86841
6208	RPS14	HP:0012129	Abnormality of bone marrow stromal cells	HP:0040283	ORPHA:86841
6208	RPS14	HP:0012133	Erythroid hypoplasia	-	OMIM:153550
6208	RPS14	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:86841
6208	RPS14	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:86841
6208	RPS14	HP:0001466	Contiguous gene syndrome	-	OMIM:153550
6208	RPS14	HP:0001442	Typified by somatic mosaicism	-	OMIM:153550
6208	RPS14	HP:0003584	Late onset	-	OMIM:153550
6208	RPS14	HP:0004861	Refractory macrocytic anemia	-	OMIM:153550
6208	RPS14	HP:0011992	Abnormal neutrophil morphology	HP:0040283	ORPHA:86841
6208	RPS14	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:86841
6208	RPS14	HP:0005528	Bone marrow hypocellularity	HP:0040283	ORPHA:86841
6208	RPS14	HP:0001972	Macrocytic anemia	HP:0040282	ORPHA:86841
6208	RPS14	HP:0002863	Myelodysplasia	-	OMIM:153550
6208	RPS14	HP:0002863	Myelodysplasia	HP:0040281	ORPHA:86841
6208	RPS14	HP:0031385	Megakaryocyte nucleus hypolobulation	-	OMIM:153550
6208	RPS14	HP:0031385	Megakaryocyte nucleus hypolobulation	HP:0040282	ORPHA:86841
6208	RPS14	HP:0011273	Anisocytosis	HP:0040283	ORPHA:86841
6208	RPS14	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:86841
6208	RPS14	HP:0001894	Thrombocytosis	HP:0040282	ORPHA:86841
6208	RPS14	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:86841
6208	RPS14	HP:0001877	Abnormal erythrocyte morphology	HP:0040282	ORPHA:86841
6210	RPS15A	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6210	RPS15A	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6210	RPS15A	HP:0008551	Microtia	HP:0040284	ORPHA:124
6210	RPS15A	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6210	RPS15A	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6210	RPS15A	HP:0008807	Acetabular dysplasia	1/3	OMIM:618313
6210	RPS15A	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6210	RPS15A	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6210	RPS15A	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6210	RPS15A	HP:0000006	Autosomal dominant inheritance	-	OMIM:618313
6210	RPS15A	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6210	RPS15A	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6210	RPS15A	HP:0012133	Erythroid hypoplasia	-	OMIM:618313
6210	RPS15A	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6210	RPS15A	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6210	RPS15A	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6210	RPS15A	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6210	RPS15A	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6210	RPS15A	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6210	RPS15A	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6210	RPS15A	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6210	RPS15A	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6210	RPS15A	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6210	RPS15A	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6210	RPS15A	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6210	RPS15A	HP:0001903	Anemia	3/3	OMIM:618313
6210	RPS15A	HP:0004322	Short stature	HP:0040283	ORPHA:124
6210	RPS15A	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6210	RPS15A	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6210	RPS15A	HP:0000980	Pallor	HP:0040282	ORPHA:124
6210	RPS15A	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6210	RPS15A	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6210	RPS15A	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6210	RPS15A	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6210	RPS15A	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6210	RPS15A	HP:0000218	High palate	HP:0040283	ORPHA:124
6210	RPS15A	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6210	RPS15A	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6210	RPS15A	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6210	RPS15A	HP:0005160	Total anomalous pulmonary venous return	1/3	OMIM:618313
6210	RPS15A	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6210	RPS15A	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6210	RPS15A	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6210	RPS15A	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6210	RPS15A	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6210	RPS15A	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6210	RPS15A	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6210	RPS15A	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6210	RPS15A	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6210	RPS15A	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6210	RPS15A	HP:0000470	Short neck	HP:0040283	ORPHA:124
6210	RPS15A	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6210	RPS15A	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6210	RPS15A	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6210	RPS15A	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6210	RPS15A	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6210	RPS15A	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6210	RPS15A	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6210	RPS15A	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6210	RPS15A	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6210	RPS15A	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6210	RPS15A	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6210	RPS15A	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6210	RPS15A	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6218	RPS17	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6218	RPS17	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6218	RPS17	HP:0008551	Microtia	HP:0040284	ORPHA:124
6218	RPS17	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6218	RPS17	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6218	RPS17	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6218	RPS17	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6218	RPS17	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6218	RPS17	HP:0000006	Autosomal dominant inheritance	-	OMIM:612527
6218	RPS17	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6218	RPS17	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6218	RPS17	HP:0012133	Erythroid hypoplasia	-	OMIM:612527
6218	RPS17	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6218	RPS17	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6218	RPS17	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6218	RPS17	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6218	RPS17	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6218	RPS17	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6218	RPS17	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6218	RPS17	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6218	RPS17	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6218	RPS17	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6218	RPS17	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6218	RPS17	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6218	RPS17	HP:0001972	Macrocytic anemia	-	OMIM:612527
6218	RPS17	HP:0001999	Abnormal facial shape	-	OMIM:612527
6218	RPS17	HP:0004322	Short stature	-	OMIM:612527
6218	RPS17	HP:0004322	Short stature	HP:0040283	ORPHA:124
6218	RPS17	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6218	RPS17	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6218	RPS17	HP:0000980	Pallor	HP:0040282	ORPHA:124
6218	RPS17	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6218	RPS17	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6218	RPS17	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6218	RPS17	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6218	RPS17	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6218	RPS17	HP:0000218	High palate	HP:0040283	ORPHA:124
6218	RPS17	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6218	RPS17	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6218	RPS17	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6218	RPS17	HP:0001510	Growth delay	-	OMIM:612527
6218	RPS17	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6218	RPS17	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6218	RPS17	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6218	RPS17	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6218	RPS17	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6218	RPS17	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6218	RPS17	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6218	RPS17	HP:0001631	Atrial septal defect	-	OMIM:612527
6218	RPS17	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6218	RPS17	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6218	RPS17	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6218	RPS17	HP:0000470	Short neck	HP:0040283	ORPHA:124
6218	RPS17	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6218	RPS17	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6218	RPS17	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6218	RPS17	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6218	RPS17	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6218	RPS17	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6218	RPS17	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6218	RPS17	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6218	RPS17	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6218	RPS17	HP:0001896	Reticulocytopenia	-	OMIM:612527
6218	RPS17	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6218	RPS17	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6218	RPS17	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6218	RPS17	HP:0001875	Decreased total neutrophil count	-	OMIM:612527
6218	RPS17	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6223	RPS19	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6223	RPS19	HP:0009944	Partial duplication of thumb phalanx	-	OMIM:105650
6223	RPS19	HP:0001199	Triphalangeal thumb	2/55	OMIM:105650
6223	RPS19	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6223	RPS19	HP:0008551	Microtia	HP:0040284	ORPHA:124
6223	RPS19	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6223	RPS19	HP:0001249	Intellectual disability	2/55	OMIM:105650
6223	RPS19	HP:0001263	Global developmental delay	1/10	OMIM:105650
6223	RPS19	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6223	RPS19	HP:0001245	Small thenar eminence	7/10	OMIM:105650
6223	RPS19	HP:0000089	Renal hypoplasia	2/55	OMIM:105650
6223	RPS19	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6223	RPS19	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6223	RPS19	HP:0002697	Parietal foramina	-	OMIM:105650
6223	RPS19	HP:0002671	Basal cell carcinoma	1/10	OMIM:105650
6223	RPS19	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6223	RPS19	HP:0002669	Osteosarcoma	-	OMIM:105650
6223	RPS19	HP:0000006	Autosomal dominant inheritance	-	OMIM:105650
6223	RPS19	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6223	RPS19	HP:0000175	Cleft palate	-	OMIM:105650
6223	RPS19	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6223	RPS19	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6223	RPS19	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6223	RPS19	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6223	RPS19	HP:0010446	Tricuspid stenosis	2/55	OMIM:105650
6223	RPS19	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6223	RPS19	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6223	RPS19	HP:0011904	Persistence of hemoglobin F	6/9	OMIM:105650
6223	RPS19	HP:0003593	Infantile onset	-	OMIM:105650
6223	RPS19	HP:0003577	Congenital onset	5/10	OMIM:105650
6223	RPS19	HP:0004810	Congenital hypoplastic anemia	-	OMIM:105650
6223	RPS19	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6223	RPS19	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6223	RPS19	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6223	RPS19	HP:0008475	Hypoplastic sacral vertebrae	-	OMIM:105650
6223	RPS19	HP:0009777	Absent thumb	-	OMIM:105650
6223	RPS19	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6223	RPS19	HP:0008447	Hypoplastic coccygeal vertebrae	-	OMIM:105650
6223	RPS19	HP:0009778	Short thumb	-	OMIM:105650
6223	RPS19	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6223	RPS19	HP:0008437	Bifid thoracic vertebrae	-	OMIM:105650
6223	RPS19	HP:0003623	Neonatal onset	1/10	OMIM:105650
6223	RPS19	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6223	RPS19	HP:0005518	Increased mean corpuscular volume	8/9	OMIM:105650
6223	RPS19	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6223	RPS19	HP:0001972	Macrocytic anemia	8/10	OMIM:105650
6223	RPS19	HP:0004322	Short stature	HP:0040283	ORPHA:124
6223	RPS19	HP:0004322	Short stature	26/70	OMIM:105650
6223	RPS19	HP:0003003	Colon cancer	2/10	OMIM:105650
6223	RPS19	HP:0011463	Childhood onset	2/10	OMIM:105650
6223	RPS19	HP:0011462	Young adult onset	2/10	OMIM:105650
6223	RPS19	HP:0000774	Narrow chest	-	OMIM:105650
6223	RPS19	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6223	RPS19	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6223	RPS19	HP:0000878	11 pairs of ribs	-	OMIM:105650
6223	RPS19	HP:0003298	Spina bifida occulta	1/10	OMIM:105650
6223	RPS19	HP:0008007	Primary congenital glaucoma	2/55	OMIM:105650
6223	RPS19	HP:0000980	Pallor	-	OMIM:105650
6223	RPS19	HP:0000980	Pallor	HP:0040282	ORPHA:124
6223	RPS19	HP:0000946	Hypoplastic ilia	-	OMIM:105650
6223	RPS19	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6223	RPS19	HP:0000286	Epicanthus	3/60	OMIM:105650
6223	RPS19	HP:0000278	Retrognathia	-	OMIM:105650
6223	RPS19	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6223	RPS19	HP:0000270	Delayed cranial suture closure	-	OMIM:105650
6223	RPS19	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6223	RPS19	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6223	RPS19	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6223	RPS19	HP:0000252	Microcephaly	1/55	OMIM:105650
6223	RPS19	HP:0000218	High palate	HP:0040283	ORPHA:124
6223	RPS19	HP:0000218	High palate	-	OMIM:105650
6223	RPS19	HP:0000204	Cleft upper lip	-	OMIM:105650
6223	RPS19	HP:0002863	Myelodysplasia	-	OMIM:105650
6223	RPS19	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6223	RPS19	HP:0001508	Failure to thrive	-	OMIM:105650
6223	RPS19	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6223	RPS19	HP:0001511	Intrauterine growth retardation	-	OMIM:105650
6223	RPS19	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6223	RPS19	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6223	RPS19	HP:0001680	Coarctation of aorta	-	OMIM:105650
6223	RPS19	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6223	RPS19	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6223	RPS19	HP:0000347	Micrognathia	-	OMIM:105650
6223	RPS19	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6223	RPS19	HP:0000316	Hypertelorism	2/15	OMIM:105650
6223	RPS19	HP:0002984	Hypoplasia of the radius	-	OMIM:105650
6223	RPS19	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6223	RPS19	HP:0001629	Ventricular septal defect	2/55	OMIM:105650
6223	RPS19	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6223	RPS19	HP:0001622	Premature birth	-	OMIM:105650
6223	RPS19	HP:0001635	Congestive heart failure	-	OMIM:105650
6223	RPS19	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6223	RPS19	HP:0001631	Atrial septal defect	2/55	OMIM:105650
6223	RPS19	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6223	RPS19	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6223	RPS19	HP:0000486	Strabismus	-	OMIM:105650
6223	RPS19	HP:0000494	Downslanted palpebral fissures	-	OMIM:105650
6223	RPS19	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6223	RPS19	HP:0000457	Depressed nasal ridge	-	OMIM:105650
6223	RPS19	HP:0000470	Short neck	HP:0040283	ORPHA:124
6223	RPS19	HP:0000470	Short neck	-	OMIM:105650
6223	RPS19	HP:0000465	Webbed neck	-	OMIM:105650
6223	RPS19	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6223	RPS19	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6223	RPS19	HP:0030270	Elevated red cell adenosine deaminase activity	8/9	OMIM:105650
6223	RPS19	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6223	RPS19	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6223	RPS19	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6223	RPS19	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6223	RPS19	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6223	RPS19	HP:0001894	Thrombocytosis	21/38	OMIM:105650
6223	RPS19	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6223	RPS19	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6223	RPS19	HP:0001896	Reticulocytopenia	-	OMIM:105650
6223	RPS19	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6223	RPS19	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6223	RPS19	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6223	RPS19	HP:0001873	Thrombocytopenia	12/38	OMIM:105650
6223	RPS19	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6223	RPS19	HP:0001875	Decreased total neutrophil count	HP:0040284	OMIM:105650
6224	RPS20	HP:0001123	Visual field defect	HP:0040283	ORPHA:440437
6224	RPS20	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6224	RPS20	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6224	RPS20	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:440437
6224	RPS20	HP:0008551	Microtia	HP:0040284	ORPHA:124
6224	RPS20	HP:0001276	Hypertonia	HP:0040282	ORPHA:440437
6224	RPS20	HP:0001288	Gait disturbance	HP:0040283	ORPHA:440437
6224	RPS20	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:440437
6224	RPS20	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6224	RPS20	HP:0001250	Seizure	HP:0040282	ORPHA:440437
6224	RPS20	HP:0001252	Hypotonia	HP:0040282	ORPHA:440437
6224	RPS20	HP:0001260	Dysarthria	HP:0040283	ORPHA:440437
6224	RPS20	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6224	RPS20	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:440437
6224	RPS20	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6224	RPS20	HP:0001371	Flexion contracture	HP:0040283	ORPHA:440437
6224	RPS20	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6224	RPS20	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:440437
6224	RPS20	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6224	RPS20	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6224	RPS20	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:440437
6224	RPS20	HP:0012126	Stomach cancer	HP:0040284	ORPHA:440437
6224	RPS20	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6224	RPS20	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6224	RPS20	HP:0012113	Abnormal circulating creatine concentration	HP:0040283	ORPHA:440437
6224	RPS20	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6224	RPS20	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6224	RPS20	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:440437
6224	RPS20	HP:0002024	Malabsorption	HP:0040281	ORPHA:440437
6224	RPS20	HP:0002019	Constipation	HP:0040281	ORPHA:440437
6224	RPS20	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:440437
6224	RPS20	HP:0002027	Abdominal pain	HP:0040281	ORPHA:440437
6224	RPS20	HP:0002076	Migraine	HP:0040282	ORPHA:440437
6224	RPS20	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:440437
6224	RPS20	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:440437
6224	RPS20	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6224	RPS20	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6224	RPS20	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:440437
6224	RPS20	HP:0010526	Dysgraphia	HP:0040283	ORPHA:440437
6224	RPS20	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:440437
6224	RPS20	HP:0003401	Paresthesia	HP:0040283	ORPHA:440437
6224	RPS20	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:440437
6224	RPS20	HP:0009726	Renal neoplasm	-	ORPHA:440437
6224	RPS20	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:440437
6224	RPS20	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:440437
6224	RPS20	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:440437
6224	RPS20	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6224	RPS20	HP:0002376	Developmental regression	HP:0040283	ORPHA:440437
6224	RPS20	HP:0002354	Memory impairment	HP:0040283	ORPHA:440437
6224	RPS20	HP:0100660	Dyskinesia	HP:0040283	ORPHA:440437
6224	RPS20	HP:0100615	Ovarian neoplasm	-	ORPHA:440437
6224	RPS20	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6224	RPS20	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6224	RPS20	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:440437
6224	RPS20	HP:0010784	Uterine neoplasm	HP:0040284	ORPHA:440437
6224	RPS20	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6224	RPS20	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6224	RPS20	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6224	RPS20	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6224	RPS20	HP:0004322	Short stature	HP:0040283	ORPHA:124
6224	RPS20	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:440437
6224	RPS20	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:440437
6224	RPS20	HP:0100013	Neoplasm of the breast	-	ORPHA:440437
6224	RPS20	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:440437
6224	RPS20	HP:0000738	Hallucinations	HP:0040283	ORPHA:440437
6224	RPS20	HP:0000737	Irritability	HP:0040282	ORPHA:440437
6224	RPS20	HP:0000739	Anxiety	HP:0040282	ORPHA:440437
6224	RPS20	HP:0000716	Depression	HP:0040282	ORPHA:440437
6224	RPS20	HP:0000708	Atypical behavior	HP:0040282	ORPHA:440437
6224	RPS20	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6224	RPS20	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6224	RPS20	HP:0000980	Pallor	HP:0040282	ORPHA:124
6224	RPS20	HP:0100273	Neoplasm of the colon	HP:0040283	ORPHA:440437
6224	RPS20	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6224	RPS20	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6224	RPS20	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6224	RPS20	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6224	RPS20	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6224	RPS20	HP:0000218	High palate	HP:0040283	ORPHA:124
6224	RPS20	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:440437
6224	RPS20	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:440437
6224	RPS20	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6224	RPS20	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6224	RPS20	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6224	RPS20	HP:0012378	Fatigue	HP:0040281	ORPHA:440437
6224	RPS20	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6224	RPS20	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6224	RPS20	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6224	RPS20	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6224	RPS20	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6224	RPS20	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6224	RPS20	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6224	RPS20	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6224	RPS20	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6224	RPS20	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6224	RPS20	HP:0000470	Short neck	HP:0040283	ORPHA:124
6224	RPS20	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6224	RPS20	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6224	RPS20	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6224	RPS20	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6224	RPS20	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:440437
6224	RPS20	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6224	RPS20	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6224	RPS20	HP:0001824	Weight loss	HP:0040281	ORPHA:440437
6224	RPS20	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6224	RPS20	HP:0000505	Visual impairment	HP:0040283	ORPHA:440437
6224	RPS20	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6224	RPS20	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6224	RPS20	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6224	RPS20	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6224	RPS20	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6224	RPS20	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6228	RPS23	HP:0001290	Generalized hypotonia	-	OMIM:617412
6228	RPS23	HP:0001270	Motor delay	1/2	OMIM:617412
6228	RPS23	HP:0001212	Prominent fingertip pads	2/2	OMIM:617412
6228	RPS23	HP:0002553	Highly arched eyebrow	1/2	OMIM:617412
6228	RPS23	HP:0001328	Specific learning disability	1/2	OMIM:617412
6228	RPS23	HP:0000006	Autosomal dominant inheritance	-	OMIM:617412
6228	RPS23	HP:0000179	Thick lower lip vermilion	1/2	OMIM:617412
6228	RPS23	HP:0000194	Open mouth	1/2	OMIM:617412
6228	RPS23	HP:0000193	Bifid uvula	1/2	OMIM:617412
6228	RPS23	HP:0000176	Submucous cleft hard palate	1/2	OMIM:617412
6228	RPS23	HP:0002299	Brittle hair	1/2	OMIM:617412
6228	RPS23	HP:0000629	Periorbital fullness	1/2	OMIM:617412
6228	RPS23	HP:0000664	Synophrys	1/2	OMIM:617412
6228	RPS23	HP:0004322	Short stature	1/2	OMIM:617412
6228	RPS23	HP:0000729	Autistic behavior	1/2	OMIM:617412
6228	RPS23	HP:0000954	Single transverse palmar crease	2/2	OMIM:617412
6228	RPS23	HP:0000286	Epicanthus	2/2	OMIM:617412
6228	RPS23	HP:0000252	Microcephaly	2/2	OMIM:617412
6228	RPS23	HP:0000218	High palate	1/2	OMIM:617412
6228	RPS23	HP:0000233	Thin vermilion border	1/2	OMIM:617412
6228	RPS23	HP:0011069	Supernumerary tooth	1/2	OMIM:617412
6228	RPS23	HP:0000396	Overfolded helix	1/2	OMIM:617412
6228	RPS23	HP:0000369	Low-set ears	1/2	OMIM:617412
6228	RPS23	HP:0000405	Conductive hearing impairment	-	OMIM:617412
6228	RPS23	HP:0005280	Depressed nasal bridge	2/2	OMIM:617412
6228	RPS23	HP:0005469	Flat occiput	1/2	OMIM:617412
6228	RPS23	HP:0000527	Long eyelashes	2/2	OMIM:617412
6228	RPS23	HP:0000592	Blue sclerae	1/2	OMIM:617412
6228	RPS23	HP:0000574	Thick eyebrow	1/2	OMIM:617412
6229	RPS24	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6229	RPS24	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6229	RPS24	HP:0008551	Microtia	HP:0040284	ORPHA:124
6229	RPS24	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6229	RPS24	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6229	RPS24	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6229	RPS24	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6229	RPS24	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6229	RPS24	HP:0000006	Autosomal dominant inheritance	-	OMIM:610629
6229	RPS24	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6229	RPS24	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6229	RPS24	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6229	RPS24	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6229	RPS24	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6229	RPS24	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6229	RPS24	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6229	RPS24	HP:0011904	Persistence of hemoglobin F	-	OMIM:610629
6229	RPS24	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6229	RPS24	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6229	RPS24	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6229	RPS24	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6229	RPS24	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6229	RPS24	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6229	RPS24	HP:0005518	Increased mean corpuscular volume	-	OMIM:610629
6229	RPS24	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6229	RPS24	HP:0001972	Macrocytic anemia	-	OMIM:610629
6229	RPS24	HP:0004322	Short stature	HP:0040283	ORPHA:124
6229	RPS24	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6229	RPS24	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6229	RPS24	HP:0000980	Pallor	HP:0040282	ORPHA:124
6229	RPS24	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6229	RPS24	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6229	RPS24	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6229	RPS24	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6229	RPS24	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6229	RPS24	HP:0000218	High palate	HP:0040283	ORPHA:124
6229	RPS24	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6229	RPS24	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6229	RPS24	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6229	RPS24	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6229	RPS24	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6229	RPS24	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6229	RPS24	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6229	RPS24	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6229	RPS24	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6229	RPS24	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6229	RPS24	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6229	RPS24	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6229	RPS24	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6229	RPS24	HP:0000470	Short neck	HP:0040283	ORPHA:124
6229	RPS24	HP:0000465	Webbed neck	1/10	OMIM:610629
6229	RPS24	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6229	RPS24	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6229	RPS24	HP:0030270	Elevated red cell adenosine deaminase activity	10/10	OMIM:610629
6229	RPS24	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6229	RPS24	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6229	RPS24	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6229	RPS24	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6229	RPS24	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6229	RPS24	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6229	RPS24	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6229	RPS24	HP:0001896	Reticulocytopenia	-	OMIM:610629
6229	RPS24	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6229	RPS24	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6229	RPS24	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6229	RPS24	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6231	RPS26	HP:0025194	Morgagni diaphragmatic hernia	1/4	OMIM:613309
6231	RPS26	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6231	RPS26	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6231	RPS26	HP:0008551	Microtia	2/4	OMIM:613309
6231	RPS26	HP:0008551	Microtia	HP:0040284	ORPHA:124
6231	RPS26	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6231	RPS26	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6231	RPS26	HP:0000086	Ectopic kidney	3/14	OMIM:613309
6231	RPS26	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6231	RPS26	HP:0000075	Renal duplication	1/4	OMIM:613309
6231	RPS26	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6231	RPS26	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6231	RPS26	HP:0000006	Autosomal dominant inheritance	-	OMIM:613309
6231	RPS26	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6231	RPS26	HP:0000175	Cleft palate	2/4	OMIM:613309
6231	RPS26	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6231	RPS26	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6231	RPS26	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6231	RPS26	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6231	RPS26	HP:0002098	Respiratory distress	HP:0040283	OMIM:613309
6231	RPS26	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6231	RPS26	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6231	RPS26	HP:0003593	Infantile onset	4/4	OMIM:613309
6231	RPS26	HP:0003577	Congenital onset	2/4	OMIM:613309
6231	RPS26	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6231	RPS26	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6231	RPS26	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6231	RPS26	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6231	RPS26	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6231	RPS26	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6231	RPS26	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6231	RPS26	HP:0001972	Macrocytic anemia	4/4	OMIM:613309
6231	RPS26	HP:0001903	Anemia	8/8	OMIM:613309
6231	RPS26	HP:0004322	Short stature	2/4	OMIM:613309
6231	RPS26	HP:0004322	Short stature	HP:0040283	ORPHA:124
6231	RPS26	HP:0011463	Childhood onset	2/4	OMIM:613309
6231	RPS26	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	OMIM:613309
6231	RPS26	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6231	RPS26	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6231	RPS26	HP:0033074	Steroid-responsive anemia	3/8	OMIM:613309
6231	RPS26	HP:0000980	Pallor	HP:0040282	ORPHA:124
6231	RPS26	HP:0005815	Supernumerary ribs	1/4	OMIM:613309
6231	RPS26	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6231	RPS26	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6231	RPS26	HP:0000272	Malar flattening	2/4	OMIM:613309
6231	RPS26	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6231	RPS26	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6231	RPS26	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6231	RPS26	HP:0000218	High palate	HP:0040283	ORPHA:124
6231	RPS26	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6231	RPS26	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6231	RPS26	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6231	RPS26	HP:0001510	Growth delay	HP:0040283	OMIM:613309
6231	RPS26	HP:0000365	Hearing impairment	2/4	OMIM:613309
6231	RPS26	HP:0000358	Posteriorly rotated ears	HP:0040283	OMIM:613309
6231	RPS26	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6231	RPS26	HP:0000369	Low-set ears	HP:0040283	OMIM:613309
6231	RPS26	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6231	RPS26	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6231	RPS26	HP:0000347	Micrognathia	1/4	OMIM:613309
6231	RPS26	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6231	RPS26	HP:0001643	Patent ductus arteriosus	HP:0040283	OMIM:613309
6231	RPS26	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6231	RPS26	HP:0001629	Ventricular septal defect	2/4	OMIM:613309
6231	RPS26	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6231	RPS26	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6231	RPS26	HP:0005321	Mandibulofacial dysostosis	HP:0040283	OMIM:613309
6231	RPS26	HP:0000405	Conductive hearing impairment	HP:0040283	OMIM:613309
6231	RPS26	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6231	RPS26	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6231	RPS26	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6231	RPS26	HP:0000475	Broad neck	HP:0040283	OMIM:613309
6231	RPS26	HP:0000470	Short neck	HP:0040283	ORPHA:124
6231	RPS26	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6231	RPS26	HP:0000453	Choanal atresia	1/4	OMIM:613309
6231	RPS26	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6231	RPS26	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6231	RPS26	HP:0000413	Atresia of the external auditory canal	2/4	OMIM:613309
6231	RPS26	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6231	RPS26	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6231	RPS26	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6231	RPS26	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6231	RPS26	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6231	RPS26	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6231	RPS26	HP:0001896	Reticulocytopenia	-	OMIM:613309
6231	RPS26	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6231	RPS26	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6231	RPS26	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6231	RPS26	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6232	RPS27	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6232	RPS27	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6232	RPS27	HP:0008551	Microtia	HP:0040284	ORPHA:124
6232	RPS27	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6232	RPS27	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6232	RPS27	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6232	RPS27	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6232	RPS27	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6232	RPS27	HP:0000006	Autosomal dominant inheritance	-	OMIM:617409
6232	RPS27	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6232	RPS27	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6232	RPS27	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6232	RPS27	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6232	RPS27	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6232	RPS27	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6232	RPS27	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6232	RPS27	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6232	RPS27	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6232	RPS27	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6232	RPS27	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6232	RPS27	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6232	RPS27	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6232	RPS27	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6232	RPS27	HP:0001903	Anemia	-	OMIM:617409
6232	RPS27	HP:0004322	Short stature	HP:0040283	ORPHA:124
6232	RPS27	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6232	RPS27	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6232	RPS27	HP:0000980	Pallor	HP:0040282	ORPHA:124
6232	RPS27	HP:0000953	Hyperpigmentation of the skin	-	OMIM:617409
6232	RPS27	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6232	RPS27	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6232	RPS27	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6232	RPS27	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6232	RPS27	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6232	RPS27	HP:0000218	High palate	HP:0040283	ORPHA:124
6232	RPS27	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6232	RPS27	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6232	RPS27	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6232	RPS27	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6232	RPS27	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6232	RPS27	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6232	RPS27	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6232	RPS27	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6232	RPS27	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6232	RPS27	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6232	RPS27	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6232	RPS27	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6232	RPS27	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6232	RPS27	HP:0000470	Short neck	HP:0040283	ORPHA:124
6232	RPS27	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6232	RPS27	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6232	RPS27	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6232	RPS27	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6232	RPS27	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6232	RPS27	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6232	RPS27	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6232	RPS27	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6232	RPS27	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6232	RPS27	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6232	RPS27	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6232	RPS27	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6232	RPS27	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6234	RPS28	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6234	RPS28	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6234	RPS28	HP:0008551	Microtia	2/2	OMIM:606164
6234	RPS28	HP:0008551	Microtia	HP:0040284	ORPHA:124
6234	RPS28	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6234	RPS28	HP:0001263	Global developmental delay	2/2	OMIM:606164
6234	RPS28	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6234	RPS28	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6234	RPS28	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6234	RPS28	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6234	RPS28	HP:0000006	Autosomal dominant inheritance	-	OMIM:606164
6234	RPS28	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6234	RPS28	HP:0000193	Bifid uvula	1/2	OMIM:606164
6234	RPS28	HP:0000175	Cleft palate	2/2	OMIM:606164
6234	RPS28	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6234	RPS28	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6234	RPS28	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6234	RPS28	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6234	RPS28	HP:0011800	Midface retrusion	2/2	OMIM:606164
6234	RPS28	HP:0002098	Respiratory distress	-	OMIM:606164
6234	RPS28	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6234	RPS28	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6234	RPS28	HP:0002162	Low posterior hairline	1/2	OMIM:606164
6234	RPS28	HP:0003577	Congenital onset	2/2	OMIM:606164
6234	RPS28	HP:0011968	Feeding difficulties	-	OMIM:606164
6234	RPS28	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6234	RPS28	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6234	RPS28	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6234	RPS28	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6234	RPS28	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6234	RPS28	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6234	RPS28	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6234	RPS28	HP:0001972	Macrocytic anemia	2/2	OMIM:606164
6234	RPS28	HP:0001913	Decreased total granulocyte count	-	OMIM:606164
6234	RPS28	HP:0004322	Short stature	HP:0040283	ORPHA:124
6234	RPS28	HP:0004322	Short stature	2/2	OMIM:606164
6234	RPS28	HP:0000776	Congenital diaphragmatic hernia	1/2	OMIM:606164
6234	RPS28	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6234	RPS28	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6234	RPS28	HP:0045075	Sparse eyebrow	1/2	OMIM:606164
6234	RPS28	HP:0000980	Pallor	HP:0040282	ORPHA:124
6234	RPS28	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6234	RPS28	HP:0000286	Epicanthus	-	OMIM:606164
6234	RPS28	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6234	RPS28	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6234	RPS28	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6234	RPS28	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6234	RPS28	HP:0000218	High palate	HP:0040283	ORPHA:124
6234	RPS28	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6234	RPS28	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6234	RPS28	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6234	RPS28	HP:0000358	Posteriorly rotated ears	1/2	OMIM:606164
6234	RPS28	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6234	RPS28	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6234	RPS28	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6234	RPS28	HP:0000347	Micrognathia	2/2	OMIM:606164
6234	RPS28	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6234	RPS28	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6234	RPS28	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6234	RPS28	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6234	RPS28	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:606164
6234	RPS28	HP:0000402	Stenosis of the external auditory canal	1/2	OMIM:606164
6234	RPS28	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6234	RPS28	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6234	RPS28	HP:0000494	Downslanted palpebral fissures	2/2	OMIM:606164
6234	RPS28	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6234	RPS28	HP:0000475	Broad neck	1/2	OMIM:606164
6234	RPS28	HP:0000470	Short neck	HP:0040283	ORPHA:124
6234	RPS28	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6234	RPS28	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6234	RPS28	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6234	RPS28	HP:0000410	Mixed hearing impairment	-	OMIM:606164
6234	RPS28	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6234	RPS28	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6234	RPS28	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6234	RPS28	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6234	RPS28	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6234	RPS28	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6234	RPS28	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6234	RPS28	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6234	RPS28	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6234	RPS28	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6235	RPS29	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
6235	RPS29	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
6235	RPS29	HP:0008551	Microtia	HP:0040284	ORPHA:124
6235	RPS29	HP:0001254	Lethargy	HP:0040282	ORPHA:124
6235	RPS29	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
6235	RPS29	HP:0003829	Typified by incomplete penetrance	-	OMIM:615909
6235	RPS29	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
6235	RPS29	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
6235	RPS29	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
6235	RPS29	HP:0000006	Autosomal dominant inheritance	-	OMIM:615909
6235	RPS29	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
6235	RPS29	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
6235	RPS29	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
6235	RPS29	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
6235	RPS29	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
6235	RPS29	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
6235	RPS29	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
6235	RPS29	HP:0003593	Infantile onset	1/6	OMIM:615909
6235	RPS29	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
6235	RPS29	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
6235	RPS29	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
6235	RPS29	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
6235	RPS29	HP:0009778	Short thumb	HP:0040283	ORPHA:124
6235	RPS29	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
6235	RPS29	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
6235	RPS29	HP:0001999	Abnormal facial shape	0/6	OMIM:615909
6235	RPS29	HP:0004322	Short stature	HP:0040283	ORPHA:124
6235	RPS29	HP:0011463	Childhood onset	5/6	OMIM:615909
6235	RPS29	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
6235	RPS29	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
6235	RPS29	HP:0000980	Pallor	HP:0040282	ORPHA:124
6235	RPS29	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
6235	RPS29	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
6235	RPS29	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
6235	RPS29	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
6235	RPS29	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
6235	RPS29	HP:0000218	High palate	HP:0040283	ORPHA:124
6235	RPS29	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
6235	RPS29	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
6235	RPS29	HP:0001510	Growth delay	HP:0040282	ORPHA:124
6235	RPS29	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
6235	RPS29	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
6235	RPS29	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
6235	RPS29	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
6235	RPS29	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
6235	RPS29	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
6235	RPS29	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
6235	RPS29	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
6235	RPS29	HP:0000486	Strabismus	HP:0040284	ORPHA:124
6235	RPS29	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
6235	RPS29	HP:0000470	Short neck	HP:0040283	ORPHA:124
6235	RPS29	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
6235	RPS29	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
6235	RPS29	HP:0030270	Elevated red cell adenosine deaminase activity	-	OMIM:615909
6235	RPS29	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
6235	RPS29	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
6235	RPS29	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
6235	RPS29	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
6235	RPS29	HP:0000508	Ptosis	HP:0040284	ORPHA:124
6235	RPS29	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
6235	RPS29	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
6235	RPS29	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
6235	RPS29	HP:0001897	Normocytic anemia	-	OMIM:615909
6235	RPS29	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
6235	RPS29	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
6235	RPS29	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
6236	RRAD	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
6236	RRAD	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
6236	RRAD	HP:0001664	Torsade de pointes	1/46	OMIM:115000
6236	RRAD	HP:0001645	Sudden cardiac death	-	OMIM:115000
6236	RRAD	HP:0001663	Ventricular fibrillation	-	OMIM:115000
6236	RRAD	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
6236	RRAD	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
6237	RRAS	HP:0001156	Brachydactyly	HP:0040283	ORPHA:648
6237	RRAS	HP:0010946	Dilatation of the renal pelvis	HP:0040283	ORPHA:648
6237	RRAS	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6237	RRAS	HP:0001293	Cranial nerve compression	-	OMIM:131300
6237	RRAS	HP:0001252	Hypotonia	HP:0040282	ORPHA:648
6237	RRAS	HP:0001252	Hypotonia	2/7	OMIM:615777
6237	RRAS	HP:0001249	Intellectual disability	HP:0040283	ORPHA:648
6237	RRAS	HP:0001249	Intellectual disability	5/7	OMIM:615777
6237	RRAS	HP:0001260	Dysarthria	HP:0040281	ORPHA:648
6237	RRAS	HP:0001263	Global developmental delay	-	OMIM:615777
6237	RRAS	HP:0002515	Waddling gait	54/102	OMIM:131300
6237	RRAS	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:648
6237	RRAS	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:648
6237	RRAS	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:648
6237	RRAS	HP:0001382	Joint hypermobility	-	OMIM:615777
6237	RRAS	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6237	RRAS	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:648
6237	RRAS	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6237	RRAS	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:648
6237	RRAS	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:648
6237	RRAS	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:648
6237	RRAS	HP:0001328	Specific learning disability	HP:0040283	ORPHA:648
6237	RRAS	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6237	RRAS	HP:0001324	Muscle weakness	HP:0040281	ORPHA:648
6237	RRAS	HP:0001324	Muscle weakness	40/96	OMIM:131300
6237	RRAS	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6237	RRAS	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6237	RRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
6237	RRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6237	RRAS	HP:0002650	Scoliosis	HP:0040282	ORPHA:648
6237	RRAS	HP:0002650	Scoliosis	12/14	OMIM:131300
6237	RRAS	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6237	RRAS	HP:0002619	Varicose veins	-	OMIM:153400
6237	RRAS	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6237	RRAS	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6237	RRAS	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:648
6237	RRAS	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6237	RRAS	HP:0000175	Cleft palate	5/39	OMIM:153400
6237	RRAS	HP:0000175	Cleft palate	2/7	OMIM:615777
6237	RRAS	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:648
6237	RRAS	HP:0011800	Midface retrusion	HP:0040281	ORPHA:648
6237	RRAS	HP:0003388	Easy fatigability	36/76	OMIM:131300
6237	RRAS	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6237	RRAS	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:648
6237	RRAS	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:648
6237	RRAS	HP:0011869	Abnormal platelet function	HP:0040282	ORPHA:648
6237	RRAS	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:648
6237	RRAS	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
6237	RRAS	HP:0002208	Coarse hair	HP:0040282	ORPHA:648
6237	RRAS	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:648
6237	RRAS	HP:0009743	Distichiasis	42/42	OMIM:153400
6237	RRAS	HP:0003510	Severe short stature	7/7	OMIM:615777
6237	RRAS	HP:0001004	Lymphedema	HP:0040283	ORPHA:648
6237	RRAS	HP:0001004	Lymphedema	-	OMIM:153400
6237	RRAS	HP:0002315	Headache	-	OMIM:131300
6237	RRAS	HP:0004976	Knee dislocation	6/7	OMIM:615777
6237	RRAS	HP:0100658	Cellulitis	2/6	OMIM:153400
6237	RRAS	HP:0100625	Enlarged thorax	HP:0040281	ORPHA:648
6237	RRAS	HP:0009803	Short phalanx of finger	-	OMIM:615777
6237	RRAS	HP:0009763	Limb pain	63/92	OMIM:131300
6237	RRAS	HP:0003621	Juvenile onset	-	OMIM:131300
6237	RRAS	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6237	RRAS	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:648
6237	RRAS	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6237	RRAS	HP:0000639	Nystagmus	HP:0040283	ORPHA:648
6237	RRAS	HP:0000635	Blue irides	HP:0040282	ORPHA:648
6237	RRAS	HP:6001056	Out-toeing	-	OMIM:131300
6237	RRAS	HP:0000651	Diplopia	-	OMIM:131300
6237	RRAS	HP:0000613	Photophobia	10/49	OMIM:153400
6237	RRAS	HP:0001956	Truncal obesity	2/7	OMIM:615777
6237	RRAS	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:648
6237	RRAS	HP:0001903	Anemia	HP:0040283	OMIM:131300
6237	RRAS	HP:0010049	Short metacarpal	-	OMIM:615777
6237	RRAS	HP:0011381	Aplasia of the semicircular canal	HP:0040283	ORPHA:648
6237	RRAS	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
6237	RRAS	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:648
6237	RRAS	HP:0000678	Dental crowding	-	OMIM:615777
6237	RRAS	HP:0000656	Ectropion	2/43	OMIM:153400
6237	RRAS	HP:0000670	Carious teeth	-	OMIM:131300
6237	RRAS	HP:0011304	Broad thumb	2/7	OMIM:615777
6237	RRAS	HP:0000668	Hypodontia	-	OMIM:615777
6237	RRAS	HP:0000664	Synophrys	-	OMIM:615777
6237	RRAS	HP:0004322	Short stature	HP:0040281	ORPHA:648
6237	RRAS	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:648
6237	RRAS	HP:0004396	Poor appetite	-	OMIM:131300
6237	RRAS	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6237	RRAS	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6237	RRAS	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6237	RRAS	HP:0003011	Abnormality of the musculature	-	OMIM:153400
6237	RRAS	HP:0003026	Short long bone	7/7	OMIM:615777
6237	RRAS	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6237	RRAS	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:648
6237	RRAS	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6237	RRAS	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6237	RRAS	HP:0000768	Pectus carinatum	HP:0040281	ORPHA:648
6237	RRAS	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6237	RRAS	HP:0000750	Delayed speech and language development	-	OMIM:615777
6237	RRAS	HP:0011461	Fetal onset	7/7	OMIM:615777
6237	RRAS	HP:0000774	Narrow chest	2/7	OMIM:615777
6237	RRAS	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:648
6237	RRAS	HP:0003115	Abnormal EKG	HP:0040281	ORPHA:648
6237	RRAS	HP:0004415	Pulmonary artery stenosis	HP:0040281	ORPHA:648
6237	RRAS	HP:0000926	Platyspondyly	1/7	OMIM:615777
6237	RRAS	HP:0003180	Flat acetabular roof	-	OMIM:615777
6237	RRAS	HP:0004482	Relative macrocephaly	-	OMIM:615777
6237	RRAS	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6237	RRAS	HP:0012804	Corneal ulceration	-	OMIM:153400
6237	RRAS	HP:0000823	Delayed puberty	-	OMIM:131300
6237	RRAS	HP:0000894	Short clavicles	-	OMIM:615777
6237	RRAS	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6237	RRAS	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:648
6237	RRAS	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:648
6237	RRAS	HP:0010310	Chylothorax	1/6	OMIM:153400
6237	RRAS	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:648
6237	RRAS	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6237	RRAS	HP:0000938	Osteopenia	HP:0040283	ORPHA:648
6237	RRAS	HP:0011675	Arrhythmia	-	OMIM:153400
6237	RRAS	HP:0011675	Arrhythmia	HP:0040282	ORPHA:648
6237	RRAS	HP:0000286	Epicanthus	1/7	OMIM:615777
6237	RRAS	HP:0000280	Coarse facial features	2/7	OMIM:615777
6237	RRAS	HP:0002827	Hip dislocation	3/7	OMIM:615777
6237	RRAS	HP:0002808	Kyphosis	2/5	OMIM:153400
6237	RRAS	HP:0000252	Microcephaly	-	OMIM:615777
6237	RRAS	HP:0012209	Juvenile myelomonocytic leukemia	HP:0040283	ORPHA:648
6237	RRAS	HP:0000218	High palate	HP:0040281	ORPHA:648
6237	RRAS	HP:0002857	Genu valgum	-	OMIM:131300
6237	RRAS	HP:0001533	Slender build	-	OMIM:131300
6237	RRAS	HP:0000204	Cleft upper lip	-	OMIM:153400
6237	RRAS	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6237	RRAS	HP:0007807	Optic nerve compression	-	OMIM:131300
6237	RRAS	HP:0012368	Flat face	7/7	OMIM:615777
6237	RRAS	HP:0000391	Thickened helices	HP:0040281	ORPHA:648
6237	RRAS	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6237	RRAS	HP:0000365	Hearing impairment	10/67	OMIM:131300
6237	RRAS	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:648
6237	RRAS	HP:0000343	Long philtrum	1/7	OMIM:615777
6237	RRAS	HP:0011001	Increased bone mineral density	-	OMIM:131300
6237	RRAS	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:648
6237	RRAS	HP:0000348	High forehead	HP:0040281	ORPHA:648
6237	RRAS	HP:0000347	Micrognathia	2/5	OMIM:153400
6237	RRAS	HP:0000347	Micrognathia	HP:0040281	ORPHA:648
6237	RRAS	HP:0000316	Hypertelorism	HP:0040281	ORPHA:648
6237	RRAS	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:648
6237	RRAS	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
6237	RRAS	HP:0000311	Round face	2/7	OMIM:615777
6237	RRAS	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:648
6237	RRAS	HP:0000325	Triangular face	HP:0040281	ORPHA:648
6237	RRAS	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
6237	RRAS	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:648
6237	RRAS	HP:0002970	Genu varum	-	OMIM:615777
6237	RRAS	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:648
6237	RRAS	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
6237	RRAS	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:648
6237	RRAS	HP:0000303	Mandibular prognathia	-	OMIM:131300
6237	RRAS	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:648
6237	RRAS	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:648
6237	RRAS	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6237	RRAS	HP:0000486	Strabismus	HP:0040282	ORPHA:648
6237	RRAS	HP:0000476	Cystic hygroma	HP:0040281	ORPHA:648
6237	RRAS	HP:0000476	Cystic hygroma	2/43	OMIM:153400
6237	RRAS	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
6237	RRAS	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:648
6237	RRAS	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
6237	RRAS	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:648
6237	RRAS	HP:0000470	Short neck	1/7	OMIM:615777
6237	RRAS	HP:0000465	Webbed neck	HP:0040281	ORPHA:648
6237	RRAS	HP:0000465	Webbed neck	6/43	OMIM:153400
6237	RRAS	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6237	RRAS	HP:0001763	Pes planus	1/7	OMIM:615777
6237	RRAS	HP:0001743	Abnormality of the spleen	HP:0040282	ORPHA:648
6237	RRAS	HP:0001840	Metatarsus adductus	-	OMIM:615777
6237	RRAS	HP:0000520	Proptosis	2/4	OMIM:131300
6237	RRAS	HP:0000520	Proptosis	7/7	OMIM:615777
6237	RRAS	HP:0000520	Proptosis	HP:0040281	ORPHA:648
6237	RRAS	HP:0000509	Conjunctivitis	-	OMIM:153400
6237	RRAS	HP:0000508	Ptosis	2/39	OMIM:153400
6237	RRAS	HP:0000508	Ptosis	HP:0040281	ORPHA:648
6237	RRAS	HP:0012569	Delayed menarche	HP:0040283	ORPHA:648
6237	RRAS	HP:0000592	Blue sclerae	2/7	OMIM:615777
6237	RRAS	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:648
6237	RRAS	HP:0000568	Microphthalmia	1/6	OMIM:153400
6237	RRAS	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6237	RRAS	HP:0012514	Lower limb pain	4/4	OMIM:131300
6239	RREB1	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:567
6239	RREB1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:567
6239	RREB1	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:567
6239	RREB1	HP:0002435	Meningocele	HP:0040282	ORPHA:567
6239	RREB1	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:567
6239	RREB1	HP:0002414	Spina bifida	HP:0040283	ORPHA:567
6239	RREB1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6239	RREB1	HP:0001293	Cranial nerve compression	-	OMIM:131300
6239	RREB1	HP:0001281	Tetany	HP:0040282	ORPHA:567
6239	RREB1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:567
6239	RREB1	HP:0001250	Seizure	HP:0040283	ORPHA:567
6239	RREB1	HP:0001252	Hypotonia	HP:0040281	ORPHA:567
6239	RREB1	HP:0001252	Hypotonia	2/7	OMIM:615777
6239	RREB1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:567
6239	RREB1	HP:0001249	Intellectual disability	5/7	OMIM:615777
6239	RREB1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:567
6239	RREB1	HP:0001263	Global developmental delay	-	OMIM:615777
6239	RREB1	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:567
6239	RREB1	HP:0002515	Waddling gait	54/102	OMIM:131300
6239	RREB1	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:567
6239	RREB1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:567
6239	RREB1	HP:0001369	Arthritis	HP:0040283	ORPHA:567
6239	RREB1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:567
6239	RREB1	HP:0001382	Joint hypermobility	-	OMIM:615777
6239	RREB1	HP:0000047	Hypospadias	HP:0040283	ORPHA:567
6239	RREB1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:567
6239	RREB1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6239	RREB1	HP:0002691	Platybasia	HP:0040281	ORPHA:567
6239	RREB1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:567
6239	RREB1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6239	RREB1	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:567
6239	RREB1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:567
6239	RREB1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6239	RREB1	HP:0001324	Muscle weakness	40/96	OMIM:131300
6239	RREB1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6239	RREB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6239	RREB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6239	RREB1	HP:0002650	Scoliosis	HP:0040282	ORPHA:567
6239	RREB1	HP:0002650	Scoliosis	12/14	OMIM:131300
6239	RREB1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6239	RREB1	HP:0002619	Varicose veins	HP:0040283	ORPHA:567
6239	RREB1	HP:0001300	Parkinsonism	HP:0040283	ORPHA:567
6239	RREB1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6239	RREB1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6239	RREB1	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:567
6239	RREB1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6239	RREB1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:567
6239	RREB1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:567
6239	RREB1	HP:0000175	Cleft palate	HP:0040281	ORPHA:567
6239	RREB1	HP:0000175	Cleft palate	2/7	OMIM:615777
6239	RREB1	HP:0000113	Polycystic kidney dysplasia	HP:0040283	ORPHA:567
6239	RREB1	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:567
6239	RREB1	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:567
6239	RREB1	HP:0002023	Anal atresia	HP:0040283	ORPHA:567
6239	RREB1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:567
6239	RREB1	HP:0002019	Constipation	HP:0040282	ORPHA:567
6239	RREB1	HP:0003326	Myalgia	HP:0040282	ORPHA:567
6239	RREB1	HP:0002099	Asthma	HP:0040283	ORPHA:567
6239	RREB1	HP:0003388	Easy fatigability	36/76	OMIM:131300
6239	RREB1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6239	RREB1	HP:0002139	Arrhinencephaly	HP:0040283	ORPHA:567
6239	RREB1	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:567
6239	RREB1	HP:0011840	Abnormality of T cell physiology	HP:0040282	ORPHA:567
6239	RREB1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:567
6239	RREB1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:567
6239	RREB1	HP:0100765	Abnormality of the tonsils	HP:0040282	ORPHA:567
6239	RREB1	HP:0100735	Hypertensive crisis	HP:0040283	ORPHA:567
6239	RREB1	HP:0100750	Atelectasis	HP:0040283	ORPHA:567
6239	RREB1	HP:0100753	Schizophrenia	HP:0040283	ORPHA:567
6239	RREB1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:567
6239	RREB1	HP:0003510	Severe short stature	7/7	OMIM:615777
6239	RREB1	HP:0001051	Seborrheic dermatitis	HP:0040282	ORPHA:567
6239	RREB1	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:567
6239	RREB1	HP:0002381	Aphasia	HP:0040281	ORPHA:567
6239	RREB1	HP:0001061	Acne	HP:0040282	ORPHA:567
6239	RREB1	HP:0002315	Headache	-	OMIM:131300
6239	RREB1	HP:0004976	Knee dislocation	6/7	OMIM:615777
6239	RREB1	HP:0009803	Short phalanx of finger	-	OMIM:615777
6239	RREB1	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:567
6239	RREB1	HP:0009763	Limb pain	63/92	OMIM:131300
6239	RREB1	HP:0003621	Juvenile onset	-	OMIM:131300
6239	RREB1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6239	RREB1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6239	RREB1	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:567
6239	RREB1	HP:6001056	Out-toeing	-	OMIM:131300
6239	RREB1	HP:0000651	Diplopia	-	OMIM:131300
6239	RREB1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:567
6239	RREB1	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:567
6239	RREB1	HP:0001956	Truncal obesity	2/7	OMIM:615777
6239	RREB1	HP:0000600	Abnormality of the pharynx	HP:0040281	ORPHA:567
6239	RREB1	HP:0001903	Anemia	HP:0040283	OMIM:131300
6239	RREB1	HP:0010049	Short metacarpal	-	OMIM:615777
6239	RREB1	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:567
6239	RREB1	HP:0000678	Dental crowding	-	OMIM:615777
6239	RREB1	HP:0011324	Multiple suture craniosynostosis	HP:0040283	ORPHA:567
6239	RREB1	HP:0000670	Carious teeth	-	OMIM:131300
6239	RREB1	HP:0000670	Carious teeth	HP:0040282	ORPHA:567
6239	RREB1	HP:0011304	Broad thumb	2/7	OMIM:615777
6239	RREB1	HP:0000668	Hypodontia	-	OMIM:615777
6239	RREB1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:567
6239	RREB1	HP:0000664	Synophrys	-	OMIM:615777
6239	RREB1	HP:0004322	Short stature	HP:0040282	ORPHA:567
6239	RREB1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:567
6239	RREB1	HP:0004396	Poor appetite	-	OMIM:131300
6239	RREB1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6239	RREB1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6239	RREB1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6239	RREB1	HP:0003026	Short long bone	7/7	OMIM:615777
6239	RREB1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6239	RREB1	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:567
6239	RREB1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6239	RREB1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6239	RREB1	HP:0000765	Abnormal thorax morphology	HP:0040283	ORPHA:567
6239	RREB1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6239	RREB1	HP:0000739	Anxiety	HP:0040282	ORPHA:567
6239	RREB1	HP:0000750	Delayed speech and language development	-	OMIM:615777
6239	RREB1	HP:0000716	Depression	HP:0040283	ORPHA:567
6239	RREB1	HP:0000717	Autism	HP:0040283	ORPHA:567
6239	RREB1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:567
6239	RREB1	HP:0011496	Corneal neovascularization	HP:0040282	ORPHA:567
6239	RREB1	HP:0011461	Fetal onset	7/7	OMIM:615777
6239	RREB1	HP:0000778	Hypoplasia of the thymus	HP:0040281	ORPHA:567
6239	RREB1	HP:0000774	Narrow chest	2/7	OMIM:615777
6239	RREB1	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:567
6239	RREB1	HP:0000926	Platyspondyly	1/7	OMIM:615777
6239	RREB1	HP:0003180	Flat acetabular roof	-	OMIM:615777
6239	RREB1	HP:0004482	Relative macrocephaly	-	OMIM:615777
6239	RREB1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6239	RREB1	HP:0000836	Hyperthyroidism	HP:0040283	ORPHA:567
6239	RREB1	HP:0000829	Hypoparathyroidism	HP:0040282	ORPHA:567
6239	RREB1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:567
6239	RREB1	HP:0000823	Delayed puberty	-	OMIM:131300
6239	RREB1	HP:0000894	Short clavicles	-	OMIM:615777
6239	RREB1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6239	RREB1	HP:0011662	Tricuspid atresia	HP:0040283	ORPHA:567
6239	RREB1	HP:0000979	Purpura	HP:0040283	ORPHA:567
6239	RREB1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6239	RREB1	HP:0000286	Epicanthus	HP:0040281	ORPHA:567
6239	RREB1	HP:0000286	Epicanthus	1/7	OMIM:615777
6239	RREB1	HP:0000280	Coarse facial features	2/7	OMIM:615777
6239	RREB1	HP:0000262	Turricephaly	HP:0040283	ORPHA:567
6239	RREB1	HP:0000276	Long face	HP:0040282	ORPHA:567
6239	RREB1	HP:0000272	Malar flattening	HP:0040282	ORPHA:567
6239	RREB1	HP:0002827	Hip dislocation	3/7	OMIM:615777
6239	RREB1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:567
6239	RREB1	HP:0000252	Microcephaly	HP:0040283	ORPHA:567
6239	RREB1	HP:0000252	Microcephaly	-	OMIM:615777
6239	RREB1	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:567
6239	RREB1	HP:0002857	Genu valgum	-	OMIM:131300
6239	RREB1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:567
6239	RREB1	HP:0001533	Slender build	-	OMIM:131300
6239	RREB1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:567
6239	RREB1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:567
6239	RREB1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6239	RREB1	HP:0001513	Obesity	HP:0040283	ORPHA:567
6239	RREB1	HP:0006510	Chronic pulmonary obstruction	HP:0040283	ORPHA:567
6239	RREB1	HP:0007807	Optic nerve compression	-	OMIM:131300
6239	RREB1	HP:0000385	Small earlobe	HP:0040282	ORPHA:567
6239	RREB1	HP:0012368	Flat face	7/7	OMIM:615777
6239	RREB1	HP:0000396	Overfolded helix	HP:0040282	ORPHA:567
6239	RREB1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:567
6239	RREB1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6239	RREB1	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:567
6239	RREB1	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:567
6239	RREB1	HP:0002901	Hypocalcemia	HP:0040282	ORPHA:567
6239	RREB1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:567
6239	RREB1	HP:0000365	Hearing impairment	10/67	OMIM:131300
6239	RREB1	HP:0000369	Low-set ears	HP:0040281	ORPHA:567
6239	RREB1	HP:0000343	Long philtrum	HP:0040282	ORPHA:567
6239	RREB1	HP:0000343	Long philtrum	1/7	OMIM:615777
6239	RREB1	HP:0011001	Increased bone mineral density	-	OMIM:131300
6239	RREB1	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:567
6239	RREB1	HP:0000347	Micrognathia	HP:0040283	ORPHA:567
6239	RREB1	HP:0012303	Abnormal aortic arch morphology	HP:0040281	ORPHA:567
6239	RREB1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:567
6239	RREB1	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:567
6239	RREB1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:567
6239	RREB1	HP:0000311	Round face	2/7	OMIM:615777
6239	RREB1	HP:0001660	Truncus arteriosus	HP:0040281	ORPHA:567
6239	RREB1	HP:0000322	Short philtrum	HP:0040283	ORPHA:567
6239	RREB1	HP:0002960	Autoimmunity	HP:0040283	ORPHA:567
6239	RREB1	HP:0001629	Ventricular septal defect	HP:0040281	ORPHA:567
6239	RREB1	HP:0001641	Abnormal pulmonary valve morphology	HP:0040281	ORPHA:567
6239	RREB1	HP:0002970	Genu varum	-	OMIM:615777
6239	RREB1	HP:0001636	Tetralogy of Fallot	HP:0040281	ORPHA:567
6239	RREB1	HP:0001631	Atrial septal defect	HP:0040281	ORPHA:567
6239	RREB1	HP:0000303	Mandibular prognathia	-	OMIM:131300
6239	RREB1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:567
6239	RREB1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6239	RREB1	HP:0000486	Strabismus	HP:0040283	ORPHA:567
6239	RREB1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:567
6239	RREB1	HP:0000492	Abnormal eyelid morphology	HP:0040282	ORPHA:567
6239	RREB1	HP:0000470	Short neck	HP:0040282	ORPHA:567
6239	RREB1	HP:0000470	Short neck	1/7	OMIM:615777
6239	RREB1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6239	RREB1	HP:0001763	Pes planus	1/7	OMIM:615777
6239	RREB1	HP:0000453	Choanal atresia	HP:0040283	ORPHA:567
6239	RREB1	HP:0000414	Bulbous nose	HP:0040281	ORPHA:567
6239	RREB1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:567
6239	RREB1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:567
6239	RREB1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:567
6239	RREB1	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:567
6239	RREB1	HP:0000518	Cataract	HP:0040283	ORPHA:567
6239	RREB1	HP:0001840	Metatarsus adductus	-	OMIM:615777
6239	RREB1	HP:0000520	Proptosis	2/4	OMIM:131300
6239	RREB1	HP:0000520	Proptosis	7/7	OMIM:615777
6239	RREB1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:567
6239	RREB1	HP:0000506	Telecanthus	HP:0040281	ORPHA:567
6239	RREB1	HP:0000508	Ptosis	HP:0040282	ORPHA:567
6239	RREB1	HP:0000501	Glaucoma	HP:0040283	ORPHA:567
6239	RREB1	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:567
6239	RREB1	HP:0000592	Blue sclerae	2/7	OMIM:615777
6239	RREB1	HP:0000568	Microphthalmia	HP:0040283	ORPHA:567
6239	RREB1	HP:0001872	Abnormality of thrombocytes	HP:0040283	ORPHA:567
6239	RREB1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6239	RREB1	HP:0012514	Lower limb pain	4/4	OMIM:131300
6239	RREB1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:567
6240	RRM1	HP:0001284	Areflexia	1/5	OMIM:620647
6240	RRM1	HP:0002579	Gastrointestinal dysmotility	2/5	OMIM:620647
6240	RRM1	HP:0001249	Intellectual disability	0/5	OMIM:620647
6240	RRM1	HP:0002578	Gastroparesis	1/5	OMIM:620647
6240	RRM1	HP:0002505	Loss of ambulation	2/5	OMIM:620647
6240	RRM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620647
6240	RRM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620647
6240	RRM1	HP:0002018	Nausea	2/5	OMIM:620647
6240	RRM1	HP:0003327	Axial muscle weakness	0/5	OMIM:620647
6240	RRM1	HP:0002015	Dysphagia	4/5	OMIM:620647
6240	RRM1	HP:0002013	Vomiting	2/5	OMIM:620647
6240	RRM1	HP:0003596	Middle age onset	2/5	OMIM:620647
6240	RRM1	HP:0003690	Limb muscle weakness	4/5	OMIM:620647
6240	RRM1	HP:0003688	Cytochrome C oxidase-negative muscle fibers	3/4	OMIM:620647
6240	RRM1	HP:0003689	Multiple mitochondrial DNA deletions	4/4	OMIM:620647
6240	RRM1	HP:0003687	Centrally nucleated skeletal muscle fibers	1/4	OMIM:620647
6240	RRM1	HP:0007141	Sensorimotor neuropathy	1/5	OMIM:620647
6240	RRM1	HP:0003621	Juvenile onset	1/5	OMIM:620647
6240	RRM1	HP:0000602	Ophthalmoplegia	5/5	OMIM:620647
6240	RRM1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	0/5	OMIM:620647
6240	RRM1	HP:0004326	Cachexia	2/3	OMIM:620647
6240	RRM1	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/5	OMIM:620647
6240	RRM1	HP:0011463	Childhood onset	1/5	OMIM:620647
6240	RRM1	HP:0011462	Young adult onset	1/5	OMIM:620647
6240	RRM1	HP:0003198	Myopathy	5/5	OMIM:620647
6240	RRM1	HP:0003236	Elevated circulating creatine kinase concentration	1/5	OMIM:620647
6240	RRM1	HP:0003202	Skeletal muscle atrophy	2/5	OMIM:620647
6240	RRM1	HP:0003200	Ragged-red muscle fibers	3/4	OMIM:620647
6240	RRM1	HP:0030319	Weakness of facial musculature	2/5	OMIM:620647
6240	RRM1	HP:0000407	Sensorineural hearing impairment	1/5	OMIM:620647
6240	RRM1	HP:0000508	Ptosis	5/5	OMIM:620647
6247	RS1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
6247	RS1	HP:0001105	Retinal atrophy	-	OMIM:312700
6247	RS1	HP:0025158	Hyperautofluorescent retinal lesion	HP:0040282	ORPHA:792
6247	RS1	HP:0007401	Macular atrophy	HP:0040282	OMIM:312700
6247	RS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
6247	RS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
6247	RS1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
6247	RS1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
6247	RS1	HP:0007667	Peripheral cystoid retinal degeneration	-	OMIM:312700
6247	RS1	HP:0001419	X-linked recessive inheritance	-	OMIM:312700
6247	RS1	HP:0003621	Juvenile onset	8/19	OMIM:180100
6247	RS1	HP:0030502	Retinoschisis	HP:0040281	ORPHA:792
6247	RS1	HP:0030502	Retinoschisis	-	OMIM:312700
6247	RS1	HP:0000662	Nyctalopia	HP:0040283	ORPHA:792
6247	RS1	HP:0000662	Nyctalopia	26/28	OMIM:180100
6247	RS1	HP:0011463	Childhood onset	3/19	OMIM:180100
6247	RS1	HP:0011462	Young adult onset	8/19	OMIM:180100
6247	RS1	HP:0030825	Absent foveal reflex	HP:0040283	ORPHA:792
6247	RS1	HP:0030824	Mizuo phenomenon	HP:0040283	ORPHA:792
6247	RS1	HP:0030824	Mizuo phenomenon	4/4	OMIM:312700
6247	RS1	HP:0007722	Retinal pigment epithelial atrophy	HP:0040282	ORPHA:792
6247	RS1	HP:0007722	Retinal pigment epithelial atrophy	HP:0040282	OMIM:312700
6247	RS1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
6247	RS1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
6247	RS1	HP:0007902	Vitreous hemorrhage	HP:0040282	ORPHA:792
6247	RS1	HP:0007902	Vitreous hemorrhage	26/86	OMIM:312700
6247	RS1	HP:0007984	Electronegative electroretinogram	HP:0040282	ORPHA:792
6247	RS1	HP:0007984	Electronegative electroretinogram	-	OMIM:312700
6247	RS1	HP:0000486	Strabismus	HP:0040283	ORPHA:792
6247	RS1	HP:0000496	Abnormality of eye movement	HP:0040281	ORPHA:792
6247	RS1	HP:0000493	Abnormal foveal morphology	HP:0040282	ORPHA:792
6247	RS1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
6247	RS1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:792
6247	RS1	HP:0000529	Progressive visual loss	HP:0040281	ORPHA:792
6247	RS1	HP:0000529	Progressive visual loss	-	OMIM:312700
6247	RS1	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:792
6247	RS1	HP:0000501	Glaucoma	HP:0040281	ORPHA:792
6247	RS1	HP:0000575	Scotoma	5/18	OMIM:180100
6247	RS1	HP:0000541	Retinal detachment	HP:0040283	ORPHA:792
6247	RS1	HP:0000541	Retinal detachment	26/86	OMIM:312700
6247	RS1	HP:0000540	Hypermetropia	-	OMIM:312700
6247	RS1	HP:0000546	Retinal degeneration	-	OMIM:312700
6247	RS1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
6247	RS1	HP:0000545	Myopia	-	OMIM:180100
6253	RTN2	HP:0007210	Lower limb amyotrophy	HP:0040282	ORPHA:100993
6253	RTN2	HP:0001270	Motor delay	2/2	OMIM:620854
6253	RTN2	HP:0001288	Gait disturbance	5/5	OMIM:620854
6253	RTN2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:100993
6253	RTN2	HP:0001283	Bulbar palsy	0/13	OMIM:620854
6253	RTN2	HP:0001250	Seizure	-	ORPHA:100993
6253	RTN2	HP:0001249	Intellectual disability	0/13	OMIM:620854
6253	RTN2	HP:0001258	Spastic paraplegia	-	OMIM:604805
6253	RTN2	HP:0007350	Upper limb hyperreflexia	HP:0040283	ORPHA:100993
6253	RTN2	HP:0007340	Lower limb muscle weakness	-	OMIM:604805
6253	RTN2	HP:0007340	Lower limb muscle weakness	HP:0040281	ORPHA:100993
6253	RTN2	HP:0000020	Urinary incontinence	-	OMIM:604805
6253	RTN2	HP:0000020	Urinary incontinence	HP:0040282	ORPHA:100993
6253	RTN2	HP:0001347	Hyperreflexia	13/13	OMIM:620854
6253	RTN2	HP:0001347	Hyperreflexia	-	OMIM:604805
6253	RTN2	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:100993
6253	RTN2	HP:0000012	Urinary urgency	-	OMIM:604805
6253	RTN2	HP:0000012	Urinary urgency	HP:0040282	ORPHA:100993
6253	RTN2	HP:0000012	Urinary urgency	2/13	OMIM:620854
6253	RTN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620854
6253	RTN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:604805
6253	RTN2	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:100993
6253	RTN2	HP:0008994	Proximal muscle weakness in lower limbs	4/13	OMIM:620854
6253	RTN2	HP:0008959	Distal upper limb muscle weakness	13/13	OMIM:620854
6253	RTN2	HP:0008944	Distal lower limb amyotrophy	13/13	OMIM:620854
6253	RTN2	HP:0040307	Male sexual dysfunction	HP:0040282	ORPHA:100993
6253	RTN2	HP:0003307	Hyperlordosis	1/13	OMIM:620854
6253	RTN2	HP:0100561	Spinal cord lesion	HP:0040282	ORPHA:100993
6253	RTN2	HP:0003394	Muscle spasm	HP:0040282	ORPHA:100993
6253	RTN2	HP:0002064	Spastic gait	8/8	OMIM:620854
6253	RTN2	HP:0002064	Spastic gait	-	OMIM:604805
6253	RTN2	HP:0002064	Spastic gait	HP:0040282	ORPHA:100993
6253	RTN2	HP:0002061	Lower limb spasticity	13/13	OMIM:620854
6253	RTN2	HP:0002061	Lower limb spasticity	-	OMIM:604805
6253	RTN2	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:100993
6253	RTN2	HP:0002070	Limb ataxia	HP:0040282	ORPHA:100993
6253	RTN2	HP:0003487	Babinski sign	13/13	OMIM:620854
6253	RTN2	HP:0003487	Babinski sign	-	OMIM:604805
6253	RTN2	HP:0003487	Babinski sign	HP:0040282	ORPHA:100993
6253	RTN2	HP:0003457	EMG abnormality	-	ORPHA:100993
6253	RTN2	HP:0003438	Absent Achilles reflex	13/13	OMIM:620854
6253	RTN2	HP:0002169	Clonus	HP:0040282	ORPHA:100993
6253	RTN2	HP:0002166	Impaired vibration sensation in the lower limbs	-	OMIM:604805
6253	RTN2	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:100993
6253	RTN2	HP:0007020	Progressive spastic paraplegia	HP:0040281	ORPHA:100993
6253	RTN2	HP:0007002	Motor axonal neuropathy	11/13	OMIM:620854
6253	RTN2	HP:0002359	Frequent falls	4/4	OMIM:620854
6253	RTN2	HP:0002345	Action tremor	4/13	OMIM:620854
6253	RTN2	HP:0003676	Progressive	-	OMIM:604805
6253	RTN2	HP:0002314	Degeneration of the lateral corticospinal tracts	HP:0040281	ORPHA:100993
6253	RTN2	HP:0010831	Impaired proprioception	HP:0040282	ORPHA:100993
6253	RTN2	HP:0007149	Distal upper limb amyotrophy	11/13	OMIM:620854
6253	RTN2	HP:0003621	Juvenile onset	4/13	OMIM:620854
6253	RTN2	HP:0009077	Weakness of long finger extensor muscles	10/13	OMIM:620854
6253	RTN2	HP:0009053	Distal lower limb muscle weakness	13/13	OMIM:620854
6253	RTN2	HP:0009027	Foot dorsiflexor weakness	11/13	OMIM:620854
6253	RTN2	HP:0031936	Delayed ability to walk	2/11	OMIM:620854
6253	RTN2	HP:0011463	Childhood onset	9/13	OMIM:620854
6253	RTN2	HP:0011449	Knee clonus	-	OMIM:604805
6253	RTN2	HP:0011448	Ankle clonus	-	OMIM:604805
6253	RTN2	HP:0012898	Abnormal lower-limb motor evoked potentials	-	ORPHA:100993
6253	RTN2	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:620854
6253	RTN2	HP:0030014	Female sexual dysfunction	HP:0040282	ORPHA:100993
6253	RTN2	HP:0002839	Urinary bladder sphincter dysfunction	-	OMIM:604805
6253	RTN2	HP:0030051	Tip-toe gait	8/8	OMIM:620854
6253	RTN2	HP:0002921	Abnormal cerebrospinal fluid morphology	-	ORPHA:100993
6253	RTN2	HP:0001763	Pes planus	9/13	OMIM:620854
6253	RTN2	HP:0001765	Hammertoe	6/13	OMIM:620854
6253	RTN2	HP:0001761	Pes cavus	4/13	OMIM:620854
6253	RTN2	HP:0001761	Pes cavus	-	OMIM:604805
6253	RTN2	HP:0001761	Pes cavus	HP:0040282	ORPHA:100993
6253	RTN2	HP:0012548	Fatty replacement of skeletal muscle	2/4	OMIM:620854
6261	RYR1	HP:0002483	Bulbar signs	HP:0040283	ORPHA:597
6261	RYR1	HP:0002480	Hepatic encephalopathy	HP:0040284	ORPHA:466650
6261	RYR1	HP:0003789	Minicore myopathy	HP:0040282	ORPHA:424107
6261	RYR1	HP:0003789	Minicore myopathy	3/4	OMIM:619542
6261	RYR1	HP:0003789	Minicore myopathy	1/1	OMIM:255320
6261	RYR1	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	-	OMIM:255320
6261	RYR1	HP:0003798	Nemaline bodies	HP:0040283	ORPHA:597
6261	RYR1	HP:0003798	Nemaline bodies	HP:0040283	OMIM:255320
6261	RYR1	HP:0003798	Nemaline bodies	HP:0040283	ORPHA:98905
6261	RYR1	HP:0003798	Nemaline bodies	2/2	OMIM:117000
6261	RYR1	HP:0003749	Pelvic girdle muscle weakness	HP:0040282	ORPHA:597
6261	RYR1	HP:0003738	Exercise-induced myalgia	-	OMIM:255320
6261	RYR1	HP:0003738	Exercise-induced myalgia	HP:0040283	ORPHA:169189
6261	RYR1	HP:0003738	Exercise-induced myalgia	1/4	OMIM:619542
6261	RYR1	HP:0003701	Proximal muscle weakness	-	OMIM:255320
6261	RYR1	HP:0003701	Proximal muscle weakness	5/5	OMIM:619542
6261	RYR1	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:424107
6261	RYR1	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:98905
6261	RYR1	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:169186
6261	RYR1	HP:0003710	Exercise-induced muscle cramps	HP:0040283	ORPHA:466650
6261	RYR1	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:324581
6261	RYR1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:169186
6261	RYR1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:169189
6261	RYR1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:98905
6261	RYR1	HP:0100807	Long fingers	HP:0040283	ORPHA:169186
6261	RYR1	HP:0001270	Motor delay	HP:0040282	ORPHA:597
6261	RYR1	HP:0001270	Motor delay	1/1	OMIM:255320
6261	RYR1	HP:0001270	Motor delay	HP:0040282	ORPHA:98905
6261	RYR1	HP:0001270	Motor delay	HP:0040282	ORPHA:324581
6261	RYR1	HP:0001270	Motor delay	3/4	OMIM:619542
6261	RYR1	HP:0001270	Motor delay	HP:0040282	ORPHA:424107
6261	RYR1	HP:0001270	Motor delay	6/12	OMIM:117000
6261	RYR1	HP:0001270	Motor delay	HP:0040282	ORPHA:169186
6261	RYR1	HP:0001289	Confusion	HP:0040283	ORPHA:466650
6261	RYR1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:424107
6261	RYR1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:169189
6261	RYR1	HP:0001284	Areflexia	-	OMIM:255320
6261	RYR1	HP:0001284	Areflexia	HP:0040283	ORPHA:169186
6261	RYR1	HP:0001284	Areflexia	HP:0040282	ORPHA:424107
6261	RYR1	HP:0001254	Lethargy	HP:0040283	ORPHA:324581
6261	RYR1	HP:0001254	Lethargy	HP:0040283	ORPHA:466650
6261	RYR1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:169186
6261	RYR1	HP:0001250	Seizure	HP:0040283	ORPHA:466650
6261	RYR1	HP:0001252	Hypotonia	5/6	OMIM:619542
6261	RYR1	HP:0001252	Hypotonia	HP:0040282	ORPHA:597
6261	RYR1	HP:0001252	Hypotonia	16/17	OMIM:255320
6261	RYR1	HP:0001251	Ataxia	HP:0040283	ORPHA:466650
6261	RYR1	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:324581
6261	RYR1	HP:0001265	Hyporeflexia	6/8	OMIM:117000
6261	RYR1	HP:0001260	Dysarthria	HP:0040283	ORPHA:169186
6261	RYR1	HP:0008689	Bilateral cryptorchidism	1/1	OMIM:619542
6261	RYR1	HP:0002515	Waddling gait	HP:0040282	ORPHA:169186
6261	RYR1	HP:0002522	Areflexia of lower limbs	HP:0040283	ORPHA:169189
6261	RYR1	HP:0003803	Type 1 muscle fiber predominance	HP:0040283	ORPHA:169186
6261	RYR1	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:597
6261	RYR1	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:169189
6261	RYR1	HP:0003803	Type 1 muscle fiber predominance	HP:0040283	ORPHA:178145
6261	RYR1	HP:0003803	Type 1 muscle fiber predominance	-	OMIM:117000
6261	RYR1	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:98905
6261	RYR1	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:424107
6261	RYR1	HP:0003803	Type 1 muscle fiber predominance	3/5	OMIM:619542
6261	RYR1	HP:0001399	Hepatic failure	HP:0040284	ORPHA:466650
6261	RYR1	HP:0001374	Congenital hip dislocation	HP:0040282	ORPHA:597
6261	RYR1	HP:0001374	Congenital hip dislocation	-	OMIM:117000
6261	RYR1	HP:0000046	Small scrotum	HP:0040283	ORPHA:98905
6261	RYR1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:98905
6261	RYR1	HP:0012036	Sternocleidomastoid amyotrophy	HP:0040283	ORPHA:98905
6261	RYR1	HP:0000054	Micropenis	HP:0040283	ORPHA:98905
6261	RYR1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:597
6261	RYR1	HP:0001382	Joint hypermobility	3/4	OMIM:619542
6261	RYR1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:178145
6261	RYR1	HP:0001382	Joint hypermobility	-	OMIM:255320
6261	RYR1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:98905
6261	RYR1	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:169189
6261	RYR1	HP:0001349	Facial diplegia	HP:0040283	ORPHA:169186
6261	RYR1	HP:0001349	Facial diplegia	HP:0040283	ORPHA:98905
6261	RYR1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:98905
6261	RYR1	HP:0000028	Cryptorchidism	1/3	OMIM:619542
6261	RYR1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:169189
6261	RYR1	HP:0008872	Feeding difficulties in infancy	8/11	OMIM:255320
6261	RYR1	HP:0008850	Severe postnatal growth retardation	HP:0040283	ORPHA:98905
6261	RYR1	HP:0001324	Muscle weakness	4/4	OMIM:117000
6261	RYR1	HP:0001324	Muscle weakness	HP:0040283	ORPHA:466650
6261	RYR1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:98905
6261	RYR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:255320
6261	RYR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:117000
6261	RYR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619542
6261	RYR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:145600
6261	RYR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:117000
6261	RYR1	HP:0002650	Scoliosis	4/18	OMIM:255320
6261	RYR1	HP:0002650	Scoliosis	HP:0040283	ORPHA:98905
6261	RYR1	HP:0002650	Scoliosis	1/1	OMIM:619542
6261	RYR1	HP:0002650	Scoliosis	HP:0040282	ORPHA:424107
6261	RYR1	HP:0002650	Scoliosis	1/8	OMIM:117000
6261	RYR1	HP:0001319	Neonatal hypotonia	1/1	OMIM:255320
6261	RYR1	HP:0001319	Neonatal hypotonia	4/4	OMIM:117000
6261	RYR1	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:178145
6261	RYR1	HP:0002643	Neonatal respiratory distress	HP:0040284	ORPHA:597
6261	RYR1	HP:0002615	Hypotension	HP:0040283	ORPHA:466650
6261	RYR1	HP:0002615	Hypotension	-	OMIM:145600
6261	RYR1	HP:0031139	Frog-leg posture	HP:0040283	ORPHA:98905
6261	RYR1	HP:0031139	Frog-leg posture	HP:0040283	ORPHA:324581
6261	RYR1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:169186
6261	RYR1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:324581
6261	RYR1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:169186
6261	RYR1	HP:0001488	Bilateral ptosis	1/1	OMIM:619542
6261	RYR1	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:169189
6261	RYR1	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040282	ORPHA:169189
6261	RYR1	HP:0005001	Recurrent patellar dislocation	HP:0040283	ORPHA:178145
6261	RYR1	HP:0008981	Calf muscle hypertrophy	HP:0040283	ORPHA:169189
6261	RYR1	HP:0008978	Necrotizing myopathy	HP:0040283	ORPHA:423
6261	RYR1	HP:0008959	Distal upper limb muscle weakness	HP:0040282	ORPHA:178145
6261	RYR1	HP:0008954	Intrinsic hand muscle atrophy	HP:0040282	ORPHA:178145
6261	RYR1	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:424107
6261	RYR1	HP:0008942	Acute rhabdomyolysis	HP:0040283	ORPHA:423
6261	RYR1	HP:0031284	Flushing	HP:0040283	ORPHA:466650
6261	RYR1	HP:0002795	Abnormal respiratory system physiology	HP:0040282	ORPHA:98905
6261	RYR1	HP:0002795	Abnormal respiratory system physiology	HP:0040283	ORPHA:324581
6261	RYR1	HP:0002789	Tachypnea	HP:0040282	ORPHA:466650
6261	RYR1	HP:0002789	Tachypnea	HP:0040282	ORPHA:423
6261	RYR1	HP:0001436	Abnormality of the foot musculature	HP:0040282	ORPHA:169189
6261	RYR1	HP:0001410	Decreased liver function	HP:0040283	ORPHA:466650
6261	RYR1	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:597
6261	RYR1	HP:0002751	Kyphoscoliosis	4/4	OMIM:619542
6261	RYR1	HP:0031237	Internally nucleated skeletal muscle fibers	HP:0040282	ORPHA:98905
6261	RYR1	HP:0031237	Internally nucleated skeletal muscle fibers	HP:0040283	ORPHA:324581
6261	RYR1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:169189
6261	RYR1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040284	ORPHA:424107
6261	RYR1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040284	ORPHA:597
6261	RYR1	HP:0031258	Delirium	HP:0040283	ORPHA:466650
6261	RYR1	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:169189
6261	RYR1	HP:0002018	Nausea	HP:0040282	ORPHA:466650
6261	RYR1	HP:0002002	Deep philtrum	1/1	OMIM:619542
6261	RYR1	HP:0003327	Axial muscle weakness	-	OMIM:255320
6261	RYR1	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:98905
6261	RYR1	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:178145
6261	RYR1	HP:0002013	Vomiting	HP:0040283	ORPHA:466650
6261	RYR1	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:169186
6261	RYR1	HP:0005967	Mixed respiratory and metabolic acidosis	-	OMIM:145600
6261	RYR1	HP:0003323	Progressive muscle weakness	HP:0040282	ORPHA:169186
6261	RYR1	HP:0003324	Generalized muscle weakness	1/1	OMIM:255320
6261	RYR1	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:178145
6261	RYR1	HP:0003324	Generalized muscle weakness	-	OMIM:117000
6261	RYR1	HP:0011807	Type 1 muscle fiber atrophy	HP:0040282	ORPHA:98905
6261	RYR1	HP:0011805	Abnormal skeletal muscle morphology	HP:0040282	ORPHA:98905
6261	RYR1	HP:0011800	Midface retrusion	1/1	OMIM:619542
6261	RYR1	HP:0002089	Pulmonary hypoplasia	-	OMIM:255320
6261	RYR1	HP:0002093	Respiratory insufficiency	1/1	OMIM:255320
6261	RYR1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:169186
6261	RYR1	HP:0002090	Pneumonia	HP:0040283	ORPHA:98905
6261	RYR1	HP:0002063	Rigidity	-	OMIM:145600
6261	RYR1	HP:0003391	Gowers sign	HP:0040282	ORPHA:169186
6261	RYR1	HP:0002047	Malignant hyperthermia	HP:0040282	ORPHA:597
6261	RYR1	HP:0002047	Malignant hyperthermia	HP:0040281	ORPHA:466650
6261	RYR1	HP:0002047	Malignant hyperthermia	HP:0040284	ORPHA:169189
6261	RYR1	HP:0002047	Malignant hyperthermia	HP:0040282	ORPHA:423
6261	RYR1	HP:0002047	Malignant hyperthermia	HP:0040282	ORPHA:424107
6261	RYR1	HP:0002047	Malignant hyperthermia	2/6	OMIM:619542
6261	RYR1	HP:0002047	Malignant hyperthermia	2/20	OMIM:117000
6261	RYR1	HP:0002047	Malignant hyperthermia	-	OMIM:145600
6261	RYR1	HP:0002058	Myopathic facies	-	OMIM:255320
6261	RYR1	HP:0002058	Myopathic facies	HP:0040282	ORPHA:98905
6261	RYR1	HP:0002058	Myopathic facies	HP:0040283	ORPHA:324581
6261	RYR1	HP:0002058	Myopathic facies	HP:0040282	ORPHA:424107
6261	RYR1	HP:0002058	Myopathic facies	1/1	OMIM:619542
6261	RYR1	HP:0003388	Easy fatigability	HP:0040282	ORPHA:597
6261	RYR1	HP:0003388	Easy fatigability	HP:0040282	ORPHA:424107
6261	RYR1	HP:0100520	Oliguria	HP:0040283	ORPHA:466650
6261	RYR1	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:466650
6261	RYR1	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:169189
6261	RYR1	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:169189
6261	RYR1	HP:0003473	Fatigable weakness	HP:0040281	ORPHA:424107
6261	RYR1	HP:0002153	Hyperkalemia	HP:0040283	ORPHA:466650
6261	RYR1	HP:0002153	Hyperkalemia	HP:0040283	ORPHA:423
6261	RYR1	HP:0002153	Hyperkalemia	-	OMIM:145600
6261	RYR1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:169189
6261	RYR1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:424107
6261	RYR1	HP:0004756	Ventricular tachycardia	HP:0040282	ORPHA:423
6261	RYR1	HP:0004755	Supraventricular tachycardia	HP:0040282	ORPHA:423
6261	RYR1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040283	ORPHA:169186
6261	RYR1	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:169189
6261	RYR1	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:178145
6261	RYR1	HP:0010546	Muscle fibrillation	HP:0040282	ORPHA:169189
6261	RYR1	HP:0003593	Infantile onset	8/8	OMIM:117000
6261	RYR1	HP:0003577	Congenital onset	16/17	OMIM:255320
6261	RYR1	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:597
6261	RYR1	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:423
6261	RYR1	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:169186
6261	RYR1	HP:0003547	Shoulder girdle muscle weakness	HP:0040283	ORPHA:98905
6261	RYR1	HP:0003560	Muscular dystrophy	-	OMIM:255320
6261	RYR1	HP:0003560	Muscular dystrophy	HP:0040282	ORPHA:98905
6261	RYR1	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:255320
6261	RYR1	HP:0003557	Increased variability in muscle fiber diameter	5/5	OMIM:117000
6261	RYR1	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:98905
6261	RYR1	HP:0002205	Recurrent respiratory infections	9/17	OMIM:255320
6261	RYR1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:424107
6261	RYR1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:98905
6261	RYR1	HP:0008331	Elevated creatine kinase after exercise	HP:0040283	ORPHA:423
6261	RYR1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:98905
6261	RYR1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:424107
6261	RYR1	HP:0011968	Feeding difficulties	4/4	OMIM:117000
6261	RYR1	HP:0011964	Intermittent painful muscle spasms	HP:0040282	ORPHA:423
6261	RYR1	HP:0010628	Facial palsy	HP:0040282	ORPHA:169186
6261	RYR1	HP:0010628	Facial palsy	-	OMIM:255320
6261	RYR1	HP:0010628	Facial palsy	HP:0040282	ORPHA:178145
6261	RYR1	HP:0010628	Facial palsy	HP:0040282	ORPHA:98905
6261	RYR1	HP:0002380	Fasciculations	HP:0040283	ORPHA:324581
6261	RYR1	HP:0001048	Cavernous hemangioma	HP:0040283	ORPHA:169189
6261	RYR1	HP:0003691	Scapular winging	HP:0040283	ORPHA:169186
6261	RYR1	HP:0003691	Scapular winging	HP:0040282	ORPHA:424107
6261	RYR1	HP:0003687	Centrally nucleated skeletal muscle fibers	HP:0040283	ORPHA:169186
6261	RYR1	HP:0003687	Centrally nucleated skeletal muscle fibers	HP:0040281	ORPHA:169189
6261	RYR1	HP:0003687	Centrally nucleated skeletal muscle fibers	2/2	OMIM:117000
6261	RYR1	HP:0003687	Centrally nucleated skeletal muscle fibers	11/11	OMIM:255320
6261	RYR1	HP:0003687	Centrally nucleated skeletal muscle fibers	HP:0040283	ORPHA:324581
6261	RYR1	HP:0003687	Centrally nucleated skeletal muscle fibers	2/4	OMIM:619542
6261	RYR1	HP:0003677	Slowly progressive	-	OMIM:117000
6261	RYR1	HP:0002321	Vertigo	HP:0040282	ORPHA:466650
6261	RYR1	HP:0002315	Headache	HP:0040282	ORPHA:466650
6261	RYR1	HP:0004976	Knee dislocation	HP:0040283	ORPHA:178145
6261	RYR1	HP:0010804	Tented upper lip vermilion	HP:0040283	ORPHA:98905
6261	RYR1	HP:0001072	Thickened skin	HP:0040282	ORPHA:324581
6261	RYR1	HP:0009765	Low hanging columella	1/1	OMIM:619542
6261	RYR1	HP:0003623	Neonatal onset	1/1	OMIM:255320
6261	RYR1	HP:0003623	Neonatal onset	4/4	OMIM:117000
6261	RYR1	HP:0003621	Juvenile onset	3/4	OMIM:619542
6261	RYR1	HP:0005521	Disseminated intravascular coagulation	HP:0040284	ORPHA:466650
6261	RYR1	HP:0011399	Tibialis anterior muscle atrophy	HP:0040283	ORPHA:98905
6261	RYR1	HP:0001945	Fever	HP:0040282	ORPHA:423
6261	RYR1	HP:0001942	Metabolic acidosis	HP:0040282	ORPHA:423
6261	RYR1	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:169186
6261	RYR1	HP:0000602	Ophthalmoplegia	HP:0040284	ORPHA:424107
6261	RYR1	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:597
6261	RYR1	HP:0001919	Acute kidney injury	HP:0040284	ORPHA:466650
6261	RYR1	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:423
6261	RYR1	HP:0009045	Exercise-induced rhabdomyolysis	HP:0040283	ORPHA:423
6261	RYR1	HP:0009046	Difficulty running	HP:0040282	ORPHA:169186
6261	RYR1	HP:0009046	Difficulty running	HP:0040282	ORPHA:178145
6261	RYR1	HP:0009046	Difficulty running	-	OMIM:255320
6261	RYR1	HP:0009046	Difficulty running	HP:0040283	ORPHA:98905
6261	RYR1	HP:0009025	Increased connective tissue	-	OMIM:255320
6261	RYR1	HP:0009025	Increased connective tissue	HP:0040282	ORPHA:98905
6261	RYR1	HP:0001989	Fetal akinesia sequence	HP:0040284	ORPHA:597
6261	RYR1	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:169186
6261	RYR1	HP:0004322	Short stature	2/4	OMIM:619542
6261	RYR1	HP:0031936	Delayed ability to walk	4/4	OMIM:117000
6261	RYR1	HP:0031936	Delayed ability to walk	1/1	OMIM:619542
6261	RYR1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:169186
6261	RYR1	HP:0000707	Abnormality of the nervous system	HP:0040281	ORPHA:466650
6261	RYR1	HP:0011463	Childhood onset	1/17	OMIM:255320
6261	RYR1	HP:0011463	Childhood onset	1/4	OMIM:619542
6261	RYR1	HP:0011461	Fetal onset	1/1	OMIM:619542
6261	RYR1	HP:0012768	Neonatal asphyxia	HP:0040283	ORPHA:169189
6261	RYR1	HP:0030799	Scaphocephaly	1/1	OMIM:619542
6261	RYR1	HP:0003198	Myopathy	HP:0040282	ORPHA:597
6261	RYR1	HP:0003198	Myopathy	HP:0040282	ORPHA:424107
6261	RYR1	HP:0004488	Macrocephaly at birth	HP:0040282	ORPHA:169189
6261	RYR1	HP:0003128	Lactic acidosis	HP:0040283	ORPHA:466650
6261	RYR1	HP:0000883	Thin ribs	HP:0040282	ORPHA:169189
6261	RYR1	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040283	ORPHA:597
6261	RYR1	HP:0040081	Abnormal circulating creatine kinase concentration	0/1	OMIM:255320
6261	RYR1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040284	ORPHA:597
6261	RYR1	HP:0003236	Elevated circulating creatine kinase concentration	3/5	OMIM:619542
6261	RYR1	HP:0003236	Elevated circulating creatine kinase concentration	-	ORPHA:424107
6261	RYR1	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:145600
6261	RYR1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:466650
6261	RYR1	HP:0030850	Abnormal pulse pressure	HP:0040282	ORPHA:466650
6261	RYR1	HP:0003202	Skeletal muscle atrophy	1/1	OMIM:255320
6261	RYR1	HP:0003202	Skeletal muscle atrophy	-	OMIM:117000
6261	RYR1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:98905
6261	RYR1	HP:0003201	Rhabdomyolysis	HP:0040284	ORPHA:466650
6261	RYR1	HP:0003201	Rhabdomyolysis	-	OMIM:145600
6261	RYR1	HP:0003201	Rhabdomyolysis	-	ORPHA:424107
6261	RYR1	HP:0003273	Hip contracture	HP:0040283	ORPHA:169186
6261	RYR1	HP:0030830	Crackles	HP:0040283	ORPHA:466650
6261	RYR1	HP:0003256	Abnormality of the coagulation cascade	HP:0040283	ORPHA:466650
6261	RYR1	HP:0003256	Abnormality of the coagulation cascade	HP:0040283	ORPHA:423
6261	RYR1	HP:0003256	Abnormality of the coagulation cascade	-	OMIM:145600
6261	RYR1	HP:0000958	Dry skin	HP:0040284	ORPHA:466650
6261	RYR1	HP:0000970	Anhidrosis	HP:0040284	ORPHA:466650
6261	RYR1	HP:0000969	Edema	HP:0040283	ORPHA:98905
6261	RYR1	HP:0100295	Muscle fiber atrophy	4/4	OMIM:619542
6261	RYR1	HP:0100293	Hypertrophied muscle fibers	HP:0040282	ORPHA:98905
6261	RYR1	HP:0040191	Rectus femoris muscle atrophy	-	ORPHA:597
6261	RYR1	HP:0040191	Rectus femoris muscle atrophy	-	ORPHA:424107
6261	RYR1	HP:0040191	Rectus femoris muscle atrophy	HP:0040283	ORPHA:98905
6261	RYR1	HP:0000286	Epicanthus	HP:0040281	ORPHA:324581
6261	RYR1	HP:0000278	Retrognathia	HP:0040282	ORPHA:169186
6261	RYR1	HP:0012250	ST segment depression	HP:0040283	ORPHA:466650
6261	RYR1	HP:0000275	Narrow face	HP:0040283	ORPHA:98905
6261	RYR1	HP:0000276	Long face	HP:0040283	ORPHA:169186
6261	RYR1	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:324581
6261	RYR1	HP:0005135	Abnormal T-wave	HP:0040283	ORPHA:466650
6261	RYR1	HP:0006466	Ankle flexion contracture	6/8	OMIM:117000
6261	RYR1	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:597
6261	RYR1	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:424107
6261	RYR1	HP:0031320	Cardiomyocyte mitochondrial proliferation	HP:0040282	ORPHA:423
6261	RYR1	HP:0002878	Respiratory failure	HP:0040283	ORPHA:98905
6261	RYR1	HP:0000218	High palate	-	OMIM:255320
6261	RYR1	HP:0000218	High palate	HP:0040283	ORPHA:98905
6261	RYR1	HP:0000218	High palate	1/1	OMIM:619542
6261	RYR1	HP:0000218	High palate	HP:0040282	ORPHA:169186
6261	RYR1	HP:0001561	Polyhydramnios	-	OMIM:255320
6261	RYR1	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:169189
6261	RYR1	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:98905
6261	RYR1	HP:0001558	Decreased fetal movement	11/17	OMIM:255320
6261	RYR1	HP:0001558	Decreased fetal movement	1/1	OMIM:619542
6261	RYR1	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:169189
6261	RYR1	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:98905
6261	RYR1	HP:0001508	Failure to thrive	1/1	OMIM:619542
6261	RYR1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:424107
6261	RYR1	HP:0001520	Large for gestational age	HP:0040282	ORPHA:169189
6261	RYR1	HP:0012391	Hyporeflexia of upper limbs	HP:0040282	ORPHA:178145
6261	RYR1	HP:0012378	Fatigue	HP:0040282	ORPHA:466650
6261	RYR1	HP:0005268	Miscarriage	HP:0040282	ORPHA:169189
6261	RYR1	HP:0006554	Acute hepatic failure	HP:0040283	ORPHA:423
6261	RYR1	HP:0002938	Lumbar hyperlordosis	4/5	OMIM:619542
6261	RYR1	HP:0001618	Dysphonia	HP:0040283	ORPHA:169186
6261	RYR1	HP:0002942	Thoracic kyphosis	1/1	OMIM:619542
6261	RYR1	HP:0001612	Weak cry	HP:0040282	ORPHA:324581
6261	RYR1	HP:0002913	Myoglobinuria	HP:0040283	ORPHA:423
6261	RYR1	HP:0002913	Myoglobinuria	-	OMIM:145600
6261	RYR1	HP:0002905	Hyperphosphatemia	HP:0040283	ORPHA:466650
6261	RYR1	HP:0002905	Hyperphosphatemia	HP:0040282	ORPHA:423
6261	RYR1	HP:0002905	Hyperphosphatemia	-	OMIM:145600
6261	RYR1	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:466650
6261	RYR1	HP:0000369	Low-set ears	3/4	OMIM:619542
6261	RYR1	HP:0000341	Narrow forehead	HP:0040281	ORPHA:324581
6261	RYR1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:324581
6261	RYR1	HP:0000316	Hypertelorism	3/4	OMIM:619542
6261	RYR1	HP:0001649	Tachycardia	-	OMIM:145600
6261	RYR1	HP:0001657	Prolonged QT interval	HP:0040283	ORPHA:466650
6261	RYR1	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:169186
6261	RYR1	HP:0001629	Ventricular septal defect	1/1	OMIM:619542
6261	RYR1	HP:0001623	Breech presentation	1/1	OMIM:619542
6261	RYR1	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:597
6261	RYR1	HP:0030319	Weakness of facial musculature	7/8	OMIM:117000
6261	RYR1	HP:0030319	Weakness of facial musculature	1/1	OMIM:619542
6261	RYR1	HP:0006682	Premature ventricular contraction	HP:0040283	ORPHA:423
6261	RYR1	HP:0001722	High-output congestive heart failure	HP:0040283	ORPHA:423
6261	RYR1	HP:3000005	Abnormality of masseter muscle	HP:0040283	ORPHA:423
6261	RYR1	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:169186
6261	RYR1	HP:0000494	Downslanted palpebral fissures	3/4	OMIM:619542
6261	RYR1	HP:0030230	Central core regions in muscle fibers	HP:0040282	ORPHA:597
6261	RYR1	HP:0030230	Central core regions in muscle fibers	3/3	OMIM:117000
6261	RYR1	HP:0001789	Hydrops fetalis	-	OMIM:255320
6261	RYR1	HP:0000455	Broad nasal tip	1/1	OMIM:619542
6261	RYR1	HP:0000470	Short neck	3/4	OMIM:619542
6261	RYR1	HP:0000465	Webbed neck	3/5	OMIM:619542
6261	RYR1	HP:0001763	Pes planus	HP:0040282	ORPHA:597
6261	RYR1	HP:0001763	Pes planus	-	OMIM:117000
6261	RYR1	HP:0012416	Hypercapnia	HP:0040282	ORPHA:423
6261	RYR1	HP:0012417	Hypocapnia	HP:0040283	ORPHA:466650
6261	RYR1	HP:0000411	Protruding ear	HP:0040283	ORPHA:169186
6261	RYR1	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:597
6261	RYR1	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:178145
6261	RYR1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:169186
6261	RYR1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:324581
6261	RYR1	HP:0001761	Pes cavus	HP:0040283	ORPHA:169186
6261	RYR1	HP:0000508	Ptosis	-	OMIM:255320
6261	RYR1	HP:0000508	Ptosis	HP:0040283	ORPHA:98905
6261	RYR1	HP:0000508	Ptosis	4/5	OMIM:619542
6261	RYR1	HP:0000508	Ptosis	HP:0040282	ORPHA:424107
6261	RYR1	HP:0000508	Ptosis	HP:0040282	ORPHA:169189
6261	RYR1	HP:0000597	Ophthalmoparesis	HP:0040283	ORPHA:169186
6261	RYR1	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:466650
6261	RYR1	HP:0011220	Prominent forehead	HP:0040283	ORPHA:324581
6261	RYR1	HP:0001883	Talipes	1/4	OMIM:117000
6261	RYR1	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:466650
6261	RYR1	HP:0000544	External ophthalmoplegia	-	OMIM:255320
6261	RYR1	HP:0000544	External ophthalmoplegia	HP:0040282	ORPHA:98905
6261	RYR1	HP:0000544	External ophthalmoplegia	HP:0040283	ORPHA:169189
6262	RYR2	HP:0001279	Syncope	8/9	OMIM:604772
6262	RYR2	HP:0001279	Syncope	HP:0040283	ORPHA:3286
6262	RYR2	HP:0001250	Seizure	-	OMIM:604772
6262	RYR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
6262	RYR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:604772
6262	RYR2	HP:0025478	Atrial standstill	3/6	OMIM:604772
6262	RYR2	HP:0011704	Sick sinus syndrome	1/6	OMIM:604772
6262	RYR2	HP:0004758	Effort-induced polymorphic ventricular tachycardia	5/6	OMIM:604772
6262	RYR2	HP:0004757	Paroxysmal atrial fibrillation	2/6	OMIM:604772
6262	RYR2	HP:0004756	Ventricular tachycardia	-	OMIM:604772
6262	RYR2	HP:0004756	Ventricular tachycardia	HP:0040281	ORPHA:3286
6262	RYR2	HP:0004755	Supraventricular tachycardia	HP:0040282	ORPHA:3286
6262	RYR2	HP:0002321	Vertigo	HP:0040282	ORPHA:3286
6262	RYR2	HP:0003621	Juvenile onset	1/4	OMIM:604772
6262	RYR2	HP:0034039	Ventricular couplet	1/4	OMIM:604772
6262	RYR2	HP:0034040	Bidirectional ventricular tachycardia	4/4	OMIM:604772
6262	RYR2	HP:0001962	Palpitations	HP:0040282	ORPHA:3286
6262	RYR2	HP:0011463	Childhood onset	2/4	OMIM:604772
6262	RYR2	HP:0011462	Young adult onset	1/4	OMIM:604772
6262	RYR2	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
6262	RYR2	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:3286
6262	RYR2	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:3286
6262	RYR2	HP:0001664	Torsade de pointes	1/46	OMIM:115000
6262	RYR2	HP:0001678	Atrioventricular block	1/6	OMIM:604772
6262	RYR2	HP:0001645	Sudden cardiac death	-	OMIM:115000
6262	RYR2	HP:0001645	Sudden cardiac death	12/16	OMIM:604772
6262	RYR2	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:3286
6262	RYR2	HP:0001644	Dilated cardiomyopathy	2/6	OMIM:604772
6262	RYR2	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:3286
6262	RYR2	HP:0001663	Ventricular fibrillation	-	OMIM:115000
6262	RYR2	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
6262	RYR2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
6262	RYR2	HP:0006673	Reduced systolic function	3/6	OMIM:604772
6262	RYR2	HP:0031677	Polymorphic ventricular tachycardia	HP:0040282	ORPHA:3286
6263	RYR3	HP:0003798	Nemaline bodies	1/1	OMIM:620310
6263	RYR3	HP:0010942	Echogenic intracardiac focus	1/2	OMIM:620310
6263	RYR3	HP:0003701	Proximal muscle weakness	1/1	OMIM:620310
6263	RYR3	HP:0001250	Seizure	1/2	OMIM:620310
6263	RYR3	HP:0001263	Global developmental delay	1/2	OMIM:620310
6263	RYR3	HP:0003803	Type 1 muscle fiber predominance	1/1	OMIM:620310
6263	RYR3	HP:0000007	Autosomal recessive inheritance	-	OMIM:620310
6263	RYR3	HP:0002650	Scoliosis	1/2	OMIM:620310
6263	RYR3	HP:0002028	Chronic diarrhea	1/2	OMIM:620310
6263	RYR3	HP:0003391	Gowers sign	1/1	OMIM:620310
6263	RYR3	HP:0009487	Ulnar deviation of the hand	1/2	OMIM:620310
6263	RYR3	HP:0003551	Difficulty climbing stairs	1/1	OMIM:620310
6263	RYR3	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:620310
6263	RYR3	HP:0034675	Toe joint contracture	1/2	OMIM:620310
6263	RYR3	HP:0003691	Scapular winging	1/1	OMIM:620310
6263	RYR3	HP:0002359	Frequent falls	1/2	OMIM:620310
6263	RYR3	HP:0003687	Centrally nucleated skeletal muscle fibers	1/1	OMIM:620310
6263	RYR3	HP:0003621	Juvenile onset	1/1	OMIM:620310
6263	RYR3	HP:0009046	Difficulty running	1/1	OMIM:620310
6263	RYR3	HP:0030674	Antenatal onset	1/2	OMIM:620310
6263	RYR3	HP:0031936	Delayed ability to walk	1/2	OMIM:620310
6263	RYR3	HP:0000750	Delayed speech and language development	1/2	OMIM:620310
6263	RYR3	HP:0003202	Skeletal muscle atrophy	1/2	OMIM:620310
6263	RYR3	HP:0034391	Elbow contracture	1/2	OMIM:620310
6263	RYR3	HP:0009381	Short finger	1/2	OMIM:620310
6263	RYR3	HP:0000286	Epicanthus	1/2	OMIM:620310
6263	RYR3	HP:0000275	Narrow face	1/1	OMIM:620310
6263	RYR3	HP:0002827	Hip dislocation	1/2	OMIM:620310
6263	RYR3	HP:0002803	Congenital contracture	1/2	OMIM:620310
6263	RYR3	HP:0000218	High palate	2/3	OMIM:620310
6263	RYR3	HP:0001508	Failure to thrive	1/2	OMIM:620310
6263	RYR3	HP:0000337	Broad forehead	1/2	OMIM:620310
6263	RYR3	HP:0000347	Micrognathia	1/1	OMIM:620310
6263	RYR3	HP:0030319	Weakness of facial musculature	1/1	OMIM:620310
6263	RYR3	HP:0005280	Depressed nasal bridge	1/2	OMIM:620310
6263	RYR3	HP:0001762	Talipes equinovarus	1/2	OMIM:620310
6263	RYR3	HP:0000592	Blue sclerae	1/2	OMIM:620310
6263	RYR3	HP:0011220	Prominent forehead	1/2	OMIM:620310
6288	SAA1	HP:0001278	Orthostatic hypotension	HP:0040283	ORPHA:85445
6288	SAA1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:85445
6288	SAA1	HP:0000093	Proteinuria	HP:0040281	ORPHA:85445
6288	SAA1	HP:0001396	Cholestasis	HP:0040282	ORPHA:85445
6288	SAA1	HP:0002615	Hypotension	HP:0040281	ORPHA:85445
6288	SAA1	HP:0012185	Constrictive median neuropathy	HP:0040283	ORPHA:85445
6288	SAA1	HP:0000158	Macroglossia	HP:0040284	ORPHA:85445
6288	SAA1	HP:0000100	Nephrotic syndrome	HP:0040282	ORPHA:85445
6288	SAA1	HP:0000112	Nephropathy	HP:0040281	ORPHA:85445
6288	SAA1	HP:0000105	Enlarged kidney	HP:0040282	ORPHA:85445
6288	SAA1	HP:0002024	Malabsorption	HP:0040282	ORPHA:85445
6288	SAA1	HP:0002018	Nausea	HP:0040282	ORPHA:85445
6288	SAA1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:85445
6288	SAA1	HP:0002028	Chronic diarrhea	HP:0040282	ORPHA:85445
6288	SAA1	HP:0002013	Vomiting	HP:0040282	ORPHA:85445
6288	SAA1	HP:0011830	Abnormal oral mucosa morphology	HP:0040282	ORPHA:85445
6288	SAA1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:85445
6288	SAA1	HP:0025077	Decreased QRS voltage	HP:0040283	ORPHA:85445
6288	SAA1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:85445
6288	SAA1	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:85445
6288	SAA1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:85445
6288	SAA1	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:85445
6288	SAA1	HP:0001917	Renal amyloidosis	HP:0040281	ORPHA:85445
6288	SAA1	HP:0004395	Malnutrition	HP:0040282	ORPHA:85445
6288	SAA1	HP:0000853	Goiter	HP:0040283	ORPHA:85445
6288	SAA1	HP:0000846	Adrenal insufficiency	HP:0040284	ORPHA:85445
6288	SAA1	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:85445
6288	SAA1	HP:0030843	Cardiac amyloidosis	HP:0040284	ORPHA:85445
6288	SAA1	HP:0011034	Amyloidosis	HP:0040281	ORPHA:85445
6288	SAA1	HP:0005162	Abnormal left ventricular function	HP:0040283	ORPHA:85445
6288	SAA1	HP:0030164	Jaw claudication	HP:0040283	ORPHA:85445
6288	SAA1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:85445
6295	SAG	HP:0001133	Constriction of peripheral visual field	14/16	OMIM:620228
6295	SAG	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
6295	SAG	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
6295	SAG	HP:0001123	Visual field defect	-	ORPHA:75382
6295	SAG	HP:0000007	Autosomal recessive inheritance	-	OMIM:258100
6295	SAG	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
6295	SAG	HP:0000007	Autosomal recessive inheritance	-	OMIM:613758
6295	SAG	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
6295	SAG	HP:0000006	Autosomal dominant inheritance	-	OMIM:620228
6295	SAG	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
6295	SAG	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
6295	SAG	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
6295	SAG	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:215
6295	SAG	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
6295	SAG	HP:0007663	Reduced visual acuity	17/18	OMIM:620228
6295	SAG	HP:0007641	Dyschromatopsia	-	ORPHA:75382
6295	SAG	HP:0007642	Congenital stationary night blindness	HP:0040281	ORPHA:75382
6295	SAG	HP:0007642	Congenital stationary night blindness	6/6	OMIM:258100
6295	SAG	HP:0003621	Juvenile onset	8/19	OMIM:180100
6295	SAG	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
6295	SAG	HP:0000639	Nystagmus	HP:0040282	ORPHA:215
6295	SAG	HP:0000639	Nystagmus	HP:0040284	ORPHA:75382
6295	SAG	HP:0000651	Diplopia	HP:0040284	ORPHA:75382
6295	SAG	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
6295	SAG	HP:0000618	Blindness	HP:0040281	ORPHA:791
6295	SAG	HP:0000613	Photophobia	HP:0040281	ORPHA:791
6295	SAG	HP:0000608	Macular degeneration	HP:0040283	ORPHA:75382
6295	SAG	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
6295	SAG	HP:0030469	Abnormal dark-adapted electroretinogram	HP:0040281	ORPHA:215
6295	SAG	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
6295	SAG	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	HP:0040283	ORPHA:215
6295	SAG	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
6295	SAG	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
6295	SAG	HP:0000662	Nyctalopia	-	OMIM:613758
6295	SAG	HP:0000662	Nyctalopia	26/28	OMIM:180100
6295	SAG	HP:0000662	Nyctalopia	HP:0040281	ORPHA:215
6295	SAG	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	-	OMIM:613758
6295	SAG	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
6295	SAG	HP:0030639	Congenital stationary night blindness with abnormal fundus	HP:0040282	ORPHA:215
6295	SAG	HP:0030638	Congenital stationary night blindness with normal fundus	HP:0040282	ORPHA:215
6295	SAG	HP:0011463	Childhood onset	3/19	OMIM:180100
6295	SAG	HP:0011462	Young adult onset	8/19	OMIM:180100
6295	SAG	HP:0030786	Photopsia	HP:0040283	ORPHA:791
6295	SAG	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
6295	SAG	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
6295	SAG	HP:0030824	Mizuo phenomenon	HP:0040281	ORPHA:75382
6295	SAG	HP:0030824	Mizuo phenomenon	6/6	OMIM:258100
6295	SAG	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
6295	SAG	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
6295	SAG	HP:0007703	Abnormality of retinal pigmentation	HP:0040284	ORPHA:215
6295	SAG	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
6295	SAG	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
6295	SAG	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:620228
6295	SAG	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
6295	SAG	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
6295	SAG	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
6295	SAG	HP:0030329	Retinal thinning	1/1	OMIM:620228
6295	SAG	HP:0030329	Retinal thinning	HP:0040284	ORPHA:215
6295	SAG	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
6295	SAG	HP:0007984	Electronegative electroretinogram	HP:0040281	ORPHA:75382
6295	SAG	HP:0007984	Electronegative electroretinogram	HP:0040283	ORPHA:215
6295	SAG	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
6295	SAG	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
6295	SAG	HP:0000486	Strabismus	HP:0040282	ORPHA:215
6295	SAG	HP:0000486	Strabismus	HP:0040284	ORPHA:75382
6295	SAG	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
6295	SAG	HP:0031705	Compensatory head posture	HP:0040283	ORPHA:215
6295	SAG	HP:0000510	Rod-cone dystrophy	-	OMIM:613758
6295	SAG	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
6295	SAG	HP:0000510	Rod-cone dystrophy	18/18	OMIM:620228
6295	SAG	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:75382
6295	SAG	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
6295	SAG	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
6295	SAG	HP:0000505	Visual impairment	HP:0040284	ORPHA:75382
6295	SAG	HP:0000505	Visual impairment	-	OMIM:613758
6295	SAG	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
6295	SAG	HP:0000580	Pigmentary retinopathy	-	OMIM:613758
6295	SAG	HP:0000575	Scotoma	5/18	OMIM:180100
6295	SAG	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
6295	SAG	HP:0000540	Hypermetropia	HP:0040283	ORPHA:215
6295	SAG	HP:0000539	Abnormality of refraction	HP:0040283	ORPHA:75382
6295	SAG	HP:0000533	Chorioretinal atrophy	-	OMIM:613758
6295	SAG	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
6295	SAG	HP:0000551	Color vision defect	HP:0040284	ORPHA:215
6295	SAG	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
6295	SAG	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
6295	SAG	HP:0000543	Optic disc pallor	1/1	OMIM:180100
6295	SAG	HP:0000545	Myopia	-	OMIM:180100
6295	SAG	HP:0000545	Myopia	HP:0040281	ORPHA:215
6295	SAG	HP:0000545	Myopia	HP:0040283	ORPHA:75382
6297	SALL2	HP:0001132	Lens subluxation	1/3	OMIM:216820
6297	SALL2	HP:0000007	Autosomal recessive inheritance	-	OMIM:216820
6297	SALL2	HP:0007663	Reduced visual acuity	3/3	OMIM:216820
6297	SALL2	HP:0000639	Nystagmus	3/3	OMIM:216820
6297	SALL2	HP:0000612	Iris coloboma	2/3	OMIM:216820
6297	SALL2	HP:0025586	Hypertropia	1/3	OMIM:216820
6297	SALL2	HP:0000480	Retinal coloboma	3/3	OMIM:216820
6297	SALL2	HP:0000518	Cataract	2/3	OMIM:216820
6297	SALL2	HP:0000577	Exotropia	1/3	OMIM:216820
6297	SALL2	HP:0000588	Optic disc coloboma	3/3	OMIM:216820
6297	SALL2	HP:0000565	Esotropia	2/3	OMIM:216820
6299	SALL1	HP:0001177	Preaxial hand polydactyly	11/18	OMIM:107480
6299	SALL1	HP:0001177	Preaxial hand polydactyly	HP:0040281	ORPHA:857
6299	SALL1	HP:0001140	Limbal dermoid	HP:0040283	ORPHA:857
6299	SALL1	HP:0009944	Partial duplication of thumb phalanx	-	OMIM:107480
6299	SALL1	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:857
6299	SALL1	HP:0001199	Triphalangeal thumb	9/21	OMIM:107480
6299	SALL1	HP:0001199	Triphalangeal thumb	HP:0040281	ORPHA:857
6299	SALL1	HP:0009921	Duane anomaly	HP:0040283	OMIM:107480
6299	SALL1	HP:0009912	Abnormal tragus morphology	HP:0040283	ORPHA:857
6299	SALL1	HP:0008551	Microtia	4/4	OMIM:107480
6299	SALL1	HP:0008551	Microtia	HP:0040282	ORPHA:857
6299	SALL1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6299	SALL1	HP:0001293	Cranial nerve compression	-	OMIM:131300
6299	SALL1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:857
6299	SALL1	HP:0001252	Hypotonia	2/7	OMIM:615777
6299	SALL1	HP:0001249	Intellectual disability	-	OMIM:107480
6299	SALL1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:857
6299	SALL1	HP:0001249	Intellectual disability	5/7	OMIM:615777
6299	SALL1	HP:0001263	Global developmental delay	23/89	OMIM:107480
6299	SALL1	HP:0001263	Global developmental delay	-	OMIM:615777
6299	SALL1	HP:0002575	Tracheoesophageal fistula	1/8	OMIM:107480
6299	SALL1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:857
6299	SALL1	HP:0002515	Waddling gait	54/102	OMIM:131300
6299	SALL1	HP:0000089	Renal hypoplasia	1/8	OMIM:107480
6299	SALL1	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:857
6299	SALL1	HP:0000083	Renal insufficiency	-	OMIM:107480
6299	SALL1	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:857
6299	SALL1	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:857
6299	SALL1	HP:0000076	Vesicoureteral reflux	-	OMIM:107480
6299	SALL1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:857
6299	SALL1	HP:0001382	Joint hypermobility	-	OMIM:615777
6299	SALL1	HP:0000048	Bifid scrotum	-	OMIM:107480
6299	SALL1	HP:0000048	Bifid scrotum	HP:0040283	ORPHA:857
6299	SALL1	HP:0000047	Hypospadias	3/17	OMIM:107480
6299	SALL1	HP:0000047	Hypospadias	HP:0040283	ORPHA:857
6299	SALL1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6299	SALL1	HP:0001360	Holoprosencephaly	1/8	OMIM:107480
6299	SALL1	HP:0000028	Cryptorchidism	-	OMIM:107480
6299	SALL1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:857
6299	SALL1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6299	SALL1	HP:0006179	Pseudoepiphyses of second metacarpal	-	OMIM:107480
6299	SALL1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6299	SALL1	HP:0001324	Muscle weakness	40/96	OMIM:131300
6299	SALL1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6299	SALL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6299	SALL1	HP:0000003	Multicystic kidney dysplasia	-	OMIM:107480
6299	SALL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:107480
6299	SALL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6299	SALL1	HP:0002650	Scoliosis	12/14	OMIM:131300
6299	SALL1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6299	SALL1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6299	SALL1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6299	SALL1	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:857
6299	SALL1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6299	SALL1	HP:0000175	Cleft palate	2/7	OMIM:615777
6299	SALL1	HP:0000143	Rectovaginal fistula	1/4	OMIM:107480
6299	SALL1	HP:0000143	Rectovaginal fistula	HP:0040281	ORPHA:857
6299	SALL1	HP:0000142	Abnormal vagina morphology	HP:0040283	ORPHA:857
6299	SALL1	HP:0000136	Bifid uterus	-	OMIM:107480
6299	SALL1	HP:0000154	Wide mouth	HP:0040283	ORPHA:857
6299	SALL1	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:857
6299	SALL1	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:857
6299	SALL1	HP:0000110	Renal dysplasia	-	OMIM:107480
6299	SALL1	HP:0001440	Metatarsal synostosis	-	OMIM:107480
6299	SALL1	HP:0002025	Anal stenosis	-	OMIM:107480
6299	SALL1	HP:0002023	Anal atresia	105/158	OMIM:107480
6299	SALL1	HP:0002023	Anal atresia	HP:0040281	ORPHA:857
6299	SALL1	HP:0002020	Gastroesophageal reflux	-	OMIM:107480
6299	SALL1	HP:0002019	Constipation	HP:0040282	ORPHA:857
6299	SALL1	HP:0004692	4-5 toe syndactyly	1/8	OMIM:107480
6299	SALL1	HP:0004691	2-3 toe syndactyly	-	OMIM:107480
6299	SALL1	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:857
6299	SALL1	HP:0003388	Easy fatigability	36/76	OMIM:131300
6299	SALL1	HP:0009465	Ulnar deviation of finger	HP:0040283	ORPHA:857
6299	SALL1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6299	SALL1	HP:0010481	Urethral valve	-	OMIM:107480
6299	SALL1	HP:0010481	Urethral valve	HP:0040283	ORPHA:857
6299	SALL1	HP:0002144	Tethered cord	2/8	OMIM:107480
6299	SALL1	HP:0003468	Abnormal vertebral morphology	HP:0040283	ORPHA:857
6299	SALL1	HP:0004792	Rectoperineal fistula	1/4	OMIM:107480
6299	SALL1	HP:0004792	Rectoperineal fistula	HP:0040281	ORPHA:857
6299	SALL1	HP:0011939	3-4 finger cutaneous syndactyly	1/8	OMIM:107480
6299	SALL1	HP:0003577	Congenital onset	4/4	OMIM:107480
6299	SALL1	HP:0002247	Duodenal atresia	-	OMIM:107480
6299	SALL1	HP:0010711	1-2 toe syndactyly	1/8	OMIM:107480
6299	SALL1	HP:0003510	Severe short stature	7/7	OMIM:615777
6299	SALL1	HP:0002315	Headache	-	OMIM:131300
6299	SALL1	HP:0004976	Knee dislocation	6/7	OMIM:615777
6299	SALL1	HP:0009803	Short phalanx of finger	-	OMIM:615777
6299	SALL1	HP:0010760	Absent toe	HP:0040283	ORPHA:857
6299	SALL1	HP:0009779	3-4 toe syndactyly	-	OMIM:107480
6299	SALL1	HP:0010743	Short metatarsal	-	OMIM:107480
6299	SALL1	HP:0009763	Limb pain	63/92	OMIM:131300
6299	SALL1	HP:0002308	Chiari malformation	HP:0040283	ORPHA:857
6299	SALL1	HP:0003621	Juvenile onset	-	OMIM:131300
6299	SALL1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6299	SALL1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:857
6299	SALL1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:857
6299	SALL1	HP:0010059	Broad hallux phalanx	HP:0040283	ORPHA:857
6299	SALL1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6299	SALL1	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:857
6299	SALL1	HP:6001056	Out-toeing	-	OMIM:131300
6299	SALL1	HP:0000651	Diplopia	-	OMIM:131300
6299	SALL1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:857
6299	SALL1	HP:0001956	Truncal obesity	2/7	OMIM:615777
6299	SALL1	HP:0001903	Anemia	HP:0040283	OMIM:131300
6299	SALL1	HP:0010049	Short metacarpal	-	OMIM:615777
6299	SALL1	HP:0000678	Dental crowding	-	OMIM:615777
6299	SALL1	HP:0000670	Carious teeth	-	OMIM:131300
6299	SALL1	HP:0011304	Broad thumb	3/4	OMIM:107480
6299	SALL1	HP:0011304	Broad thumb	2/7	OMIM:615777
6299	SALL1	HP:0011304	Broad thumb	HP:0040283	ORPHA:857
6299	SALL1	HP:0000668	Hypodontia	-	OMIM:615777
6299	SALL1	HP:0000664	Synophrys	-	OMIM:615777
6299	SALL1	HP:0004322	Short stature	HP:0040283	ORPHA:857
6299	SALL1	HP:0030676	Satyr ear	-	OMIM:107480
6299	SALL1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:857
6299	SALL1	HP:0004396	Poor appetite	-	OMIM:131300
6299	SALL1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6299	SALL1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6299	SALL1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6299	SALL1	HP:0003026	Short long bone	7/7	OMIM:615777
6299	SALL1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6299	SALL1	HP:0000772	Abnormal rib morphology	HP:0040283	ORPHA:857
6299	SALL1	HP:0100015	Stahl ear	-	OMIM:107480
6299	SALL1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6299	SALL1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6299	SALL1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6299	SALL1	HP:0000750	Delayed speech and language development	-	OMIM:615777
6299	SALL1	HP:0011461	Fetal onset	7/7	OMIM:615777
6299	SALL1	HP:0000774	Narrow chest	2/7	OMIM:615777
6299	SALL1	HP:0004453	Overfolding of the superior helices	-	OMIM:107480
6299	SALL1	HP:0000926	Platyspondyly	1/7	OMIM:615777
6299	SALL1	HP:0003180	Flat acetabular roof	-	OMIM:615777
6299	SALL1	HP:0004482	Relative macrocephaly	-	OMIM:615777
6299	SALL1	HP:0004467	Preauricular pit	-	OMIM:107480
6299	SALL1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6299	SALL1	HP:0000821	Hypothyroidism	-	OMIM:107480
6299	SALL1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:857
6299	SALL1	HP:0000823	Delayed puberty	-	OMIM:131300
6299	SALL1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:857
6299	SALL1	HP:0000894	Short clavicles	-	OMIM:615777
6299	SALL1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6299	SALL1	HP:0010331	Aplasia/Hypoplasia of the 3rd toe	-	OMIM:107480
6299	SALL1	HP:0010331	Aplasia/Hypoplasia of the 3rd toe	HP:0040283	ORPHA:857
6299	SALL1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6299	SALL1	HP:0000286	Epicanthus	1/7	OMIM:615777
6299	SALL1	HP:0000280	Coarse facial features	2/7	OMIM:615777
6299	SALL1	HP:0002827	Hip dislocation	3/7	OMIM:615777
6299	SALL1	HP:0000238	Hydrocephalus	1/8	OMIM:107480
6299	SALL1	HP:0000252	Microcephaly	-	OMIM:107480
6299	SALL1	HP:0000252	Microcephaly	-	OMIM:615777
6299	SALL1	HP:0012210	Abnormal renal morphology	HP:0040283	ORPHA:857
6299	SALL1	HP:0001545	Anteriorly placed anus	HP:0040282	ORPHA:857
6299	SALL1	HP:0002857	Genu valgum	-	OMIM:131300
6299	SALL1	HP:0001537	Umbilical hernia	-	OMIM:107480
6299	SALL1	HP:0001533	Slender build	-	OMIM:131300
6299	SALL1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:857
6299	SALL1	HP:0001518	Small for gestational age	1/4	OMIM:107480
6299	SALL1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6299	SALL1	HP:0007807	Optic nerve compression	-	OMIM:131300
6299	SALL1	HP:0000384	Preauricular skin tag	13/14	OMIM:107480
6299	SALL1	HP:0000384	Preauricular skin tag	HP:0040281	ORPHA:857
6299	SALL1	HP:0012368	Flat face	7/7	OMIM:615777
6299	SALL1	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:857
6299	SALL1	HP:0000396	Overfolded helix	HP:0040282	ORPHA:857
6299	SALL1	HP:0000394	Lop ear	1/4	OMIM:107480
6299	SALL1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6299	SALL1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:857
6299	SALL1	HP:0000365	Hearing impairment	10/67	OMIM:131300
6299	SALL1	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:857
6299	SALL1	HP:0000343	Long philtrum	1/7	OMIM:615777
6299	SALL1	HP:0011001	Increased bone mineral density	-	OMIM:131300
6299	SALL1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:857
6299	SALL1	HP:0000311	Round face	2/7	OMIM:615777
6299	SALL1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:857
6299	SALL1	HP:0001629	Ventricular septal defect	3/25	OMIM:107480
6299	SALL1	HP:0001641	Abnormal pulmonary valve morphology	HP:0040283	ORPHA:857
6299	SALL1	HP:0002970	Genu varum	-	OMIM:615777
6299	SALL1	HP:0001636	Tetralogy of Fallot	-	OMIM:107480
6299	SALL1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:857
6299	SALL1	HP:0001631	Atrial septal defect	1/4	OMIM:107480
6299	SALL1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:857
6299	SALL1	HP:0000303	Mandibular prognathia	-	OMIM:131300
6299	SALL1	HP:0000407	Sensorineural hearing impairment	17/21	OMIM:107480
6299	SALL1	HP:0000400	Macrotia	-	OMIM:107480
6299	SALL1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6299	SALL1	HP:0000486	Strabismus	HP:0040283	ORPHA:857
6299	SALL1	HP:0000470	Short neck	1/7	OMIM:615777
6299	SALL1	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:857
6299	SALL1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6299	SALL1	HP:0001763	Pes planus	1/7	OMIM:615777
6299	SALL1	HP:0001763	Pes planus	HP:0040282	ORPHA:857
6299	SALL1	HP:0000453	Choanal atresia	1/8	OMIM:107480
6299	SALL1	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:857
6299	SALL1	HP:0000518	Cataract	HP:0040283	ORPHA:857
6299	SALL1	HP:0001840	Metatarsus adductus	-	OMIM:615777
6299	SALL1	HP:0000520	Proptosis	2/4	OMIM:131300
6299	SALL1	HP:0000520	Proptosis	7/7	OMIM:615777
6299	SALL1	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:857
6299	SALL1	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:857
6299	SALL1	HP:0000592	Blue sclerae	2/7	OMIM:615777
6299	SALL1	HP:0000568	Microphthalmia	HP:0040283	ORPHA:857
6299	SALL1	HP:0000567	Chorioretinal coloboma	-	OMIM:107480
6299	SALL1	HP:0000567	Chorioretinal coloboma	HP:0040283	ORPHA:857
6299	SALL1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6299	SALL1	HP:0001863	Toe clinodactyly	HP:0040282	ORPHA:857
6299	SALL1	HP:0001864	Clinodactyly of the 5th toe	-	OMIM:107480
6299	SALL1	HP:0001883	Talipes	1/8	OMIM:107480
6299	SALL1	HP:0012514	Lower limb pain	4/4	OMIM:131300
6301	SARS1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
6301	SARS1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
6301	SARS1	HP:0001251	Ataxia	4/4	OMIM:617709
6301	SARS1	HP:0001263	Global developmental delay	4/4	OMIM:617709
6301	SARS1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
6301	SARS1	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
6301	SARS1	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
6301	SARS1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
6301	SARS1	HP:0001324	Muscle weakness	4/4	OMIM:617709
6301	SARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617709
6301	SARS1	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
6301	SARS1	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
6301	SARS1	HP:0002069	Bilateral tonic-clonic seizure	4/4	OMIM:617709
6301	SARS1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
6301	SARS1	HP:0003593	Infantile onset	4/4	OMIM:617709
6301	SARS1	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
6301	SARS1	HP:0002342	Intellectual disability, moderate	4/4	OMIM:617709
6301	SARS1	HP:0004322	Short stature	HP:0040281	ORPHA:2512
6301	SARS1	HP:0000718	Aggressive behavior	4/4	OMIM:617709
6301	SARS1	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
6301	SARS1	HP:0000252	Microcephaly	4/4	OMIM:617709
6301	SARS1	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
6301	SARS1	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
6301	SARS1	HP:0001533	Slender build	2/4	OMIM:617709
6301	SARS1	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
6301	SARS1	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
6301	SARS1	HP:0001763	Pes planus	2/4	OMIM:617709
6301	SARS1	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
6303	SAT1	HP:0002463	Language impairment	HP:0040284	ORPHA:93552
6303	SAT1	HP:0001131	Corneal dystrophy	HP:0040283	ORPHA:2340
6303	SAT1	HP:0001250	Seizure	HP:0040283	ORPHA:93552
6303	SAT1	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:93552
6303	SAT1	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:93552
6303	SAT1	HP:0000093	Proteinuria	HP:0040282	ORPHA:93552
6303	SAT1	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:93552
6303	SAT1	HP:0025343	Lupus anticoagulant	HP:0040283	ORPHA:93552
6303	SAT1	HP:0001369	Arthritis	HP:0040283	ORPHA:93552
6303	SAT1	HP:0007502	Follicular hyperkeratosis	HP:0040282	ORPHA:2340
6303	SAT1	HP:0025300	Malar rash	HP:0040283	ORPHA:93552
6303	SAT1	HP:0001324	Muscle weakness	HP:0040283	ORPHA:93552
6303	SAT1	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:93552
6303	SAT1	HP:0000155	Oral ulcer	HP:0040283	ORPHA:93552
6303	SAT1	HP:0000123	Nephritis	HP:0040282	ORPHA:93552
6303	SAT1	HP:0000100	Nephrotic syndrome	HP:0040282	ORPHA:93552
6303	SAT1	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:93552
6303	SAT1	HP:0002725	Systemic lupus erythematosus	HP:0040283	ORPHA:93552
6303	SAT1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:93552
6303	SAT1	HP:0040319	Dark urine	HP:0040283	ORPHA:93552
6303	SAT1	HP:0002014	Diarrhea	HP:0040284	ORPHA:93552
6303	SAT1	HP:0002013	Vomiting	HP:0040283	ORPHA:93552
6303	SAT1	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:93552
6303	SAT1	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:93552
6303	SAT1	HP:0002094	Dyspnea	HP:0040283	ORPHA:93552
6303	SAT1	HP:0003453	Antineutrophil antibody positivity	HP:0040284	ORPHA:93552
6303	SAT1	HP:0003493	Antinuclear antibody positivity	HP:0040282	ORPHA:93552
6303	SAT1	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040281	ORPHA:93552
6303	SAT1	HP:0002202	Pleural effusion	HP:0040282	ORPHA:93552
6303	SAT1	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:2340
6303	SAT1	HP:0002287	Progressive alopecia	HP:0040282	ORPHA:2340
6303	SAT1	HP:0100749	Chest pain	HP:0040284	ORPHA:93552
6303	SAT1	HP:0001047	Atopic dermatitis	HP:0040283	ORPHA:2340
6303	SAT1	HP:0001041	Facial erythema	HP:0040282	ORPHA:2340
6303	SAT1	HP:0002315	Headache	HP:0040283	ORPHA:93552
6303	SAT1	HP:0025084	Folliculitis	HP:0040282	ORPHA:2340
6303	SAT1	HP:0100614	Myositis	HP:0040284	ORPHA:93552
6303	SAT1	HP:0032152	Keratosis pilaris	HP:0040282	ORPHA:2340
6303	SAT1	HP:0002301	Hemiplegia	HP:0040283	ORPHA:93552
6303	SAT1	HP:0003613	Antiphospholipid antibody positivity	HP:0040282	ORPHA:93552
6303	SAT1	HP:0000613	Photophobia	HP:0040283	ORPHA:2340
6303	SAT1	HP:0001945	Fever	HP:0040282	ORPHA:93552
6303	SAT1	HP:0001937	Microangiopathic hemolytic anemia	HP:0040282	ORPHA:93552
6303	SAT1	HP:0000653	Sparse eyelashes	HP:0040282	ORPHA:2340
6303	SAT1	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:93552
6303	SAT1	HP:0000709	Psychosis	HP:0040283	ORPHA:93552
6303	SAT1	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:93552
6303	SAT1	HP:0000790	Hematuria	HP:0040282	ORPHA:93552
6303	SAT1	HP:0004552	Scarring alopecia of scalp	HP:0040282	ORPHA:2340
6303	SAT1	HP:0030880	Raynaud phenomenon	HP:0040284	ORPHA:93552
6303	SAT1	HP:0045042	Decreased circulating complement C4 concentration	HP:0040281	ORPHA:93552
6303	SAT1	HP:0045059	Hyperkeratotic papule	HP:0040282	ORPHA:2340
6303	SAT1	HP:0003270	Abdominal distention	HP:0040283	ORPHA:93552
6303	SAT1	HP:0045075	Sparse eyebrow	HP:0040282	ORPHA:2340
6303	SAT1	HP:0000989	Pruritus	HP:0040282	ORPHA:2340
6303	SAT1	HP:0000988	Skin rash	HP:0040282	ORPHA:93552
6303	SAT1	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:2340
6303	SAT1	HP:0000951	Abnormality of the skin	HP:0040282	ORPHA:93552
6303	SAT1	HP:0000969	Edema	HP:0040282	ORPHA:93552
6303	SAT1	HP:0001596	Alopecia	HP:0040284	ORPHA:93552
6303	SAT1	HP:0002829	Arthralgia	HP:0040283	ORPHA:93552
6303	SAT1	HP:0001541	Ascites	HP:0040283	ORPHA:93552
6303	SAT1	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040282	ORPHA:93552
6303	SAT1	HP:0001698	Pericardial effusion	HP:0040282	ORPHA:93552
6303	SAT1	HP:0000498	Blepharitis	HP:0040283	ORPHA:2340
6303	SAT1	HP:0005421	Decreased circulating complement C3 concentration	HP:0040281	ORPHA:93552
6303	SAT1	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:2340
6303	SAT1	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:93552
6303	SAT1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:93552
6303	SAT1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:93552
6304	SATB1	HP:0001197	Abnormality of prenatal development or birth	2/15	OMIM:619229
6304	SATB1	HP:0010864	Intellectual disability, severe	6/25	OMIM:619229
6304	SATB1	HP:0001270	Motor delay	34/37	OMIM:619228
6304	SATB1	HP:0001270	Motor delay	21/23	OMIM:619229
6304	SATB1	HP:0001250	Seizure	22/36	OMIM:619228
6304	SATB1	HP:0001250	Seizure	6/10	OMIM:619229
6304	SATB1	HP:0001252	Hypotonia	28/37	OMIM:619228
6304	SATB1	HP:0001252	Hypotonia	17/35	OMIM:619229
6304	SATB1	HP:0001251	Ataxia	6/27	OMIM:619228
6304	SATB1	HP:0001251	Ataxia	2/11	OMIM:619229
6304	SATB1	HP:0001249	Intellectual disability	28/31	OMIM:619228
6304	SATB1	HP:0001249	Intellectual disability	-	OMIM:619229
6304	SATB1	HP:0001260	Dysarthria	6/20	OMIM:619228
6304	SATB1	HP:0001260	Dysarthria	5/8	OMIM:619229
6304	SATB1	HP:0001263	Global developmental delay	35/36	OMIM:619228
6304	SATB1	HP:0001263	Global developmental delay	21/22	OMIM:619229
6304	SATB1	HP:0001257	Spasticity	10/36	OMIM:619228
6304	SATB1	HP:0001257	Spasticity	3/16	OMIM:619229
6304	SATB1	HP:0007359	Focal-onset seizure	2/25	OMIM:619229
6304	SATB1	HP:0002540	Inability to walk	4/25	OMIM:619229
6304	SATB1	HP:0002521	Hypsarrhythmia	4/25	OMIM:619229
6304	SATB1	HP:0025336	Delayed ability to sit	6/25	OMIM:619229
6304	SATB1	HP:0001382	Joint hypermobility	4/16	OMIM:619229
6304	SATB1	HP:0000010	Recurrent urinary tract infections	2/25	OMIM:619229
6304	SATB1	HP:0001344	Absent speech	11/11	OMIM:619229
6304	SATB1	HP:0001337	Tremor	2/25	OMIM:619229
6304	SATB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619228
6304	SATB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619229
6304	SATB1	HP:0001336	Myoclonus	2/25	OMIM:619229
6304	SATB1	HP:0002650	Scoliosis	3/25	OMIM:619229
6304	SATB1	HP:0012171	Stereotypical hand wringing	2/25	OMIM:619229
6304	SATB1	HP:0008936	Axial hypotonia	3/25	OMIM:619229
6304	SATB1	HP:0006297	Enamel hypoplasia	3/25	OMIM:619229
6304	SATB1	HP:0006286	Yellow-brown discoloration of the teeth	5/25	OMIM:619229
6304	SATB1	HP:0002783	Recurrent lower respiratory tract infections	3/25	OMIM:619229
6304	SATB1	HP:0002020	Gastroesophageal reflux	3/25	OMIM:619229
6304	SATB1	HP:0002019	Constipation	6/25	OMIM:619229
6304	SATB1	HP:0004691	2-3 toe syndactyly	2/25	OMIM:619229
6304	SATB1	HP:0002015	Dysphagia	5/15	OMIM:619229
6304	SATB1	HP:0011800	Midface retrusion	2/25	OMIM:619229
6304	SATB1	HP:0002061	Lower limb spasticity	3/25	OMIM:619229
6304	SATB1	HP:0002121	Generalized non-motor (absence) seizure	4/25	OMIM:619229
6304	SATB1	HP:0002119	Ventriculomegaly	2/25	OMIM:619229
6304	SATB1	HP:0002133	Status epilepticus	3/25	OMIM:619229
6304	SATB1	HP:0004789	Lactose intolerance	2/25	OMIM:619229
6304	SATB1	HP:0002283	Global brain atrophy	2/25	OMIM:619229
6304	SATB1	HP:0002360	Sleep abnormality	12/29	OMIM:619228
6304	SATB1	HP:0002360	Sleep abnormality	6/15	OMIM:619229
6304	SATB1	HP:0002376	Developmental regression	6/35	OMIM:619228
6304	SATB1	HP:0002376	Developmental regression	4/21	OMIM:619229
6304	SATB1	HP:0002353	EEG abnormality	19/24	OMIM:619228
6304	SATB1	HP:0002353	EEG abnormality	8/25	OMIM:619229
6304	SATB1	HP:0010841	Multifocal epileptiform discharges	4/25	OMIM:619229
6304	SATB1	HP:0010818	Generalized tonic seizure	6/25	OMIM:619229
6304	SATB1	HP:0200055	Small hand	2/25	OMIM:619229
6304	SATB1	HP:0002307	Drooling	7/16	OMIM:619229
6304	SATB1	HP:0006834	Developmental stagnation at onset of seizures	3/25	OMIM:619229
6304	SATB1	HP:0000684	Delayed eruption of teeth	3/25	OMIM:619229
6304	SATB1	HP:0000687	Widely spaced teeth	4/25	OMIM:619229
6304	SATB1	HP:0000670	Carious teeth	2/25	OMIM:619229
6304	SATB1	HP:0004325	Decreased body weight	6/25	OMIM:619229
6304	SATB1	HP:0031951	Nocturnal seizures	2/25	OMIM:619229
6304	SATB1	HP:0006986	Upper limb spasticity	2/25	OMIM:619229
6304	SATB1	HP:0006956	Lateral ventricle dilatation	2/25	OMIM:619229
6304	SATB1	HP:0031936	Delayed ability to walk	4/25	OMIM:619229
6304	SATB1	HP:0011412	Ventouse delivery	4/25	OMIM:619229
6304	SATB1	HP:0011410	Caesarean section	6/25	OMIM:619229
6304	SATB1	HP:0000733	Motor stereotypy	7/25	OMIM:619229
6304	SATB1	HP:0000736	Short attention span	2/25	OMIM:619229
6304	SATB1	HP:0000750	Delayed speech and language development	32/36	OMIM:619228
6304	SATB1	HP:0000750	Delayed speech and language development	21/23	OMIM:619229
6304	SATB1	HP:0000717	Autism	5/25	OMIM:619229
6304	SATB1	HP:0000713	Agitation	2/25	OMIM:619229
6304	SATB1	HP:0000708	Atypical behavior	24/34	OMIM:619228
6304	SATB1	HP:0000705	Amelogenesis imperfecta	4/25	OMIM:619229
6304	SATB1	HP:0011421	Death in adolescence	4/25	OMIM:619229
6304	SATB1	HP:0000958	Dry skin	3/25	OMIM:619229
6304	SATB1	HP:0000252	Microcephaly	7/31	OMIM:619228
6304	SATB1	HP:0000252	Microcephaly	4/25	OMIM:619229
6304	SATB1	HP:0000248	Brachycephaly	2/25	OMIM:619229
6304	SATB1	HP:0001562	Oligohydramnios	2/25	OMIM:619229
6304	SATB1	HP:0025502	Overweight	2/25	OMIM:619229
6304	SATB1	HP:0031355	Maintenance insomnia	2/25	OMIM:619229
6304	SATB1	HP:0001511	Intrauterine growth retardation	2/25	OMIM:619229
6304	SATB1	HP:0001513	Obesity	3/25	OMIM:619229
6304	SATB1	HP:0006482	Abnormal dental morphology	-	OMIM:619229
6304	SATB1	HP:0000358	Posteriorly rotated ears	2/25	OMIM:619229
6304	SATB1	HP:0000349	Widow's peak	2/25	OMIM:619229
6304	SATB1	HP:0000348	High forehead	2/25	OMIM:619229
6304	SATB1	HP:0000319	Smooth philtrum	2/25	OMIM:619229
6304	SATB1	HP:0001629	Ventricular septal defect	2/25	OMIM:619229
6304	SATB1	HP:0001622	Premature birth	2/25	OMIM:619229
6304	SATB1	HP:0011197	EEG with focal spike waves	2/25	OMIM:619229
6304	SATB1	HP:0011169	Generalized clonic seizure	2/25	OMIM:619229
6304	SATB1	HP:0011166	Focal myoclonic seizure	2/25	OMIM:619229
6304	SATB1	HP:0000494	Downslanted palpebral fissures	2/25	OMIM:619229
6304	SATB1	HP:0001773	Short foot	2/25	OMIM:619229
6304	SATB1	HP:0005484	Secondary microcephaly	2/25	OMIM:619229
6304	SATB1	HP:0001852	Sandal gap	2/25	OMIM:619229
6304	SATB1	HP:0000504	Abnormality of vision	3/12	OMIM:619229
6304	SATB1	HP:0000574	Thick eyebrow	2/25	OMIM:619229
6304	SATB1	HP:0000540	Hypermetropia	2/25	OMIM:619229
6305	SBF1	HP:0001159	Syndactyly	HP:0040283	OMIM:615284
6305	SBF1	HP:0001288	Gait disturbance	-	OMIM:615284
6305	SBF1	HP:0001284	Areflexia	3/3	OMIM:615284
6305	SBF1	HP:0001249	Intellectual disability	0/3	OMIM:615284
6305	SBF1	HP:0007340	Lower limb muscle weakness	3/3	OMIM:615284
6305	SBF1	HP:0002505	Loss of ambulation	2/3	OMIM:615284
6305	SBF1	HP:0000020	Urinary incontinence	HP:0040283	OMIM:615284
6305	SBF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615284
6305	SBF1	HP:0002650	Scoliosis	12/13	OMIM:615284
6305	SBF1	HP:0003383	Onion bulb formation	11/11	OMIM:615284
6305	SBF1	HP:0003484	Upper limb muscle weakness	3/3	OMIM:615284
6305	SBF1	HP:0010546	Muscle fibrillation	3/3	OMIM:615284
6305	SBF1	HP:0003676	Progressive	-	OMIM:615284
6305	SBF1	HP:0003621	Juvenile onset	3/3	OMIM:615284
6305	SBF1	HP:0000602	Ophthalmoplegia	HP:0040283	OMIM:615284
6305	SBF1	HP:0009053	Distal lower limb muscle weakness	3/3	OMIM:615284
6305	SBF1	HP:0004336	Myelin outfoldings	1/1	OMIM:615284
6305	SBF1	HP:0000762	Decreased nerve conduction velocity	3/3	OMIM:615284
6305	SBF1	HP:0003202	Skeletal muscle atrophy	3/3	OMIM:615284
6305	SBF1	HP:0000252	Microcephaly	-	OMIM:615284
6305	SBF1	HP:0002936	Distal sensory impairment	3/3	OMIM:615284
6305	SBF1	HP:0000486	Strabismus	HP:0040283	OMIM:615284
6305	SBF1	HP:0012444	Brain atrophy	HP:0040283	OMIM:615284
6305	SBF1	HP:0001763	Pes planus	3/3	OMIM:615284
6307	MSMO1	HP:0003765	Psoriasiform dermatitis	1/1	OMIM:616834
6307	MSMO1	HP:0001256	Intellectual disability, mild	-	OMIM:616834
6307	MSMO1	HP:0001263	Global developmental delay	1/1	OMIM:616834
6307	MSMO1	HP:6000753	Elevated circulating monomethyl sterol concentration	1/1	OMIM:616834
6307	MSMO1	HP:6000754	Elevated circulating dimethyl sterol concentration	1/1	OMIM:616834
6307	MSMO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616834
6307	MSMO1	HP:0002750	Delayed skeletal maturation	1/1	OMIM:616834
6307	MSMO1	HP:0003563	Decreased LDL cholesterol concentration	1/1	OMIM:616834
6307	MSMO1	HP:0004322	Short stature	1/1	OMIM:616834
6307	MSMO1	HP:6001113	Elevated circulating methysterol concentration	-	OMIM:616834
6307	MSMO1	HP:0011463	Childhood onset	1/1	OMIM:616834
6307	MSMO1	HP:0003146	Hypocholesterolemia	1/1	OMIM:616834
6307	MSMO1	HP:0000823	Delayed puberty	-	OMIM:616834
6307	MSMO1	HP:0003233	Decreased HDL cholesterol concentration	1/1	OMIM:616834
6307	MSMO1	HP:0008064	Ichthyosis	1/1	OMIM:616834
6307	MSMO1	HP:0002829	Arthralgia	-	OMIM:616834
6307	MSMO1	HP:0000252	Microcephaly	1/1	OMIM:616834
6307	MSMO1	HP:0001508	Failure to thrive	1/1	OMIM:616834
6307	MSMO1	HP:0000498	Blepharitis	1/1	OMIM:616834
6307	MSMO1	HP:0000519	Developmental cataract	1/1	OMIM:616834
6309	SC5D	HP:0001162	Postaxial hand polydactyly	HP:0040282	ORPHA:46059
6309	SC5D	HP:0001162	Postaxial hand polydactyly	1/3	OMIM:607330
6309	SC5D	HP:0002435	Meningocele	HP:0040282	ORPHA:46059
6309	SC5D	HP:0001250	Seizure	HP:0040282	ORPHA:46059
6309	SC5D	HP:0001252	Hypotonia	HP:0040282	ORPHA:46059
6309	SC5D	HP:0001263	Global developmental delay	HP:0040281	ORPHA:46059
6309	SC5D	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:46059
6309	SC5D	HP:0034936	Elevated circulating lathosterol concentration	1/1	OMIM:607330
6309	SC5D	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:46059
6309	SC5D	HP:0000085	Horseshoe kidney	HP:0040282	ORPHA:46059
6309	SC5D	HP:0000085	Horseshoe kidney	1/2	OMIM:607330
6309	SC5D	HP:0001399	Hepatic failure	HP:0040282	ORPHA:46059
6309	SC5D	HP:0001395	Hepatic fibrosis	1/1	OMIM:607330
6309	SC5D	HP:0000033	Ambiguous genitalia, male	1/1	OMIM:607330
6309	SC5D	HP:0001328	Specific learning disability	HP:0040281	ORPHA:46059
6309	SC5D	HP:0000007	Autosomal recessive inheritance	-	OMIM:607330
6309	SC5D	HP:0001336	Myoclonus	HP:0040282	ORPHA:46059
6309	SC5D	HP:0001406	Intrahepatic cholestasis	HP:0040282	ORPHA:46059
6309	SC5D	HP:0001406	Intrahepatic cholestasis	1/2	OMIM:607330
6309	SC5D	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:46059
6309	SC5D	HP:0003316	Butterfly vertebrae	1/1	OMIM:607330
6309	SC5D	HP:0030948	Elevated gamma-glutamyltransferase level	1/1	OMIM:607330
6309	SC5D	HP:6000199	Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts	2/2	OMIM:607330
6309	SC5D	HP:0011875	Abnormal platelet morphology	HP:0040282	ORPHA:46059
6309	SC5D	HP:0008278	Cerebellar cortical atrophy	HP:0040282	ORPHA:46059
6309	SC5D	HP:0003577	Congenital onset	2/3	OMIM:607330
6309	SC5D	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:46059
6309	SC5D	HP:0100711	Abnormal thoracic spine morphology	HP:0040282	ORPHA:46059
6309	SC5D	HP:0200133	Lumbosacral meningocele	1/3	OMIM:607330
6309	SC5D	HP:0004823	Anisopoikilocytosis	HP:0040282	ORPHA:46059
6309	SC5D	HP:0004823	Anisopoikilocytosis	1/1	OMIM:607330
6309	SC5D	HP:0002308	Chiari malformation	HP:0040282	ORPHA:46059
6309	SC5D	HP:0003609	Foam cells with lamellar inclusion bodies	0/1	OMIM:607330
6309	SC5D	HP:0009085	Alveolar ridge overgrowth	1/1	OMIM:607330
6309	SC5D	HP:0001987	Hyperammonemia	1/1	OMIM:607330
6309	SC5D	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:607330
6309	SC5D	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:607330
6309	SC5D	HP:0005608	Bilobate gallbladder	1/2	OMIM:607330
6309	SC5D	HP:0034198	Second trimester onset	1/2	OMIM:607330
6309	SC5D	HP:0005768	2-4 toe cutaneous syndactyly	1/3	OMIM:607330
6309	SC5D	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:46059
6309	SC5D	HP:0005709	2-3 toe cutaneous syndactyly	1/3	OMIM:607330
6309	SC5D	HP:0003196	Short nose	HP:0040282	ORPHA:46059
6309	SC5D	HP:0003196	Short nose	1/2	OMIM:607330
6309	SC5D	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:607330
6309	SC5D	HP:0000939	Osteoporosis	1/1	OMIM:607330
6309	SC5D	HP:0000286	Epicanthus	HP:0040282	ORPHA:46059
6309	SC5D	HP:0000286	Epicanthus	1/1	OMIM:607330
6309	SC5D	HP:0000293	Full cheeks	HP:0040282	ORPHA:46059
6309	SC5D	HP:0007759	Opacification of the corneal stroma	HP:0040282	ORPHA:46059
6309	SC5D	HP:0000252	Microcephaly	HP:0040281	ORPHA:46059
6309	SC5D	HP:0000252	Microcephaly	3/3	OMIM:607330
6309	SC5D	HP:0000218	High palate	HP:0040282	ORPHA:46059
6309	SC5D	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:46059
6309	SC5D	HP:0000215	Thick upper lip vermilion	1/1	OMIM:607330
6309	SC5D	HP:0001508	Failure to thrive	HP:0040282	ORPHA:46059
6309	SC5D	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:46059
6309	SC5D	HP:0002904	Hyperbilirubinemia	1/1	OMIM:607330
6309	SC5D	HP:0025660	Chiari type II malformation	1/2	OMIM:607330
6309	SC5D	HP:0000365	Hearing impairment	HP:0040282	ORPHA:46059
6309	SC5D	HP:0000341	Narrow forehead	HP:0040282	ORPHA:46059
6309	SC5D	HP:0000341	Narrow forehead	1/1	OMIM:607330
6309	SC5D	HP:0000340	Sloping forehead	HP:0040282	ORPHA:46059
6309	SC5D	HP:0000343	Long philtrum	HP:0040282	ORPHA:46059
6309	SC5D	HP:0000343	Long philtrum	1/1	OMIM:607330
6309	SC5D	HP:0000347	Micrognathia	HP:0040282	ORPHA:46059
6309	SC5D	HP:0000347	Micrognathia	2/2	OMIM:607330
6309	SC5D	HP:0005274	Prominent nasal tip	1/1	OMIM:607330
6309	SC5D	HP:0000482	Microcornea	HP:0040282	ORPHA:46059
6309	SC5D	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:46059
6309	SC5D	HP:0000463	Anteverted nares	HP:0040282	ORPHA:46059
6309	SC5D	HP:0000463	Anteverted nares	1/1	OMIM:607330
6309	SC5D	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:46059
6309	SC5D	HP:0000414	Bulbous nose	HP:0040282	ORPHA:46059
6309	SC5D	HP:0001762	Talipes equinovarus	1/3	OMIM:607330
6309	SC5D	HP:0005487	Prominent metopic ridge	HP:0040282	ORPHA:46059
6309	SC5D	HP:0000518	Cataract	HP:0040281	ORPHA:46059
6309	SC5D	HP:0000518	Cataract	2/2	OMIM:607330
6309	SC5D	HP:0000508	Ptosis	HP:0040282	ORPHA:46059
6309	SC5D	HP:0000508	Ptosis	1/1	OMIM:607330
6309	SC5D	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:46059
6309	SC5D	HP:0001830	Postaxial foot polydactyly	2/3	OMIM:607330
6309	SC5D	HP:0001883	Talipes	HP:0040282	ORPHA:46059
6309	SC5D	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:46059
6310	ATXN1	HP:0001151	Impaired horizontal smooth pursuit	-	OMIM:164400
6310	ATXN1	HP:0002483	Bulbar signs	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0002495	Impaired vibratory sensation	15/15	OMIM:164400
6310	ATXN1	HP:0002460	Distal muscle weakness	2/5	OMIM:164400
6310	ATXN1	HP:0007328	Impaired pain sensation	2/5	OMIM:164400
6310	ATXN1	HP:0007263	Spinocerebellar atrophy	-	OMIM:164400
6310	ATXN1	HP:0003744	Genetic anticipation with paternal anticipation bias	-	OMIM:164400
6310	ATXN1	HP:0003701	Proximal muscle weakness	1/5	OMIM:164400
6310	ATXN1	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:98755
6310	ATXN1	HP:0001290	Generalized hypotonia	-	OMIM:164400
6310	ATXN1	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0001283	Bulbar palsy	-	OMIM:164400
6310	ATXN1	HP:0001284	Areflexia	-	OMIM:164400
6310	ATXN1	HP:0001252	Hypotonia	-	OMIM:164400
6310	ATXN1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:98755
6310	ATXN1	HP:0001260	Dysarthria	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0001260	Dysarthria	-	OMIM:164400
6310	ATXN1	HP:0001257	Spasticity	-	OMIM:164400
6310	ATXN1	HP:0007377	Abnormality of somatosensory evoked potentials	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0007366	Atrophy/Degeneration affecting the brainstem	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0007338	Hypermetric saccades	HP:0040283	ORPHA:98755
6310	ATXN1	HP:0002542	Olivopontocerebellar atrophy	-	OMIM:164400
6310	ATXN1	HP:0002503	Spinocerebellar tract degeneration	-	OMIM:164400
6310	ATXN1	HP:0025331	Upgaze palsy	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0001350	Slurred speech	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0001347	Hyperreflexia	-	OMIM:164400
6310	ATXN1	HP:0410011	Abnormality of masticatory muscle	HP:0040283	ORPHA:98755
6310	ATXN1	HP:0001332	Dystonia	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0001324	Muscle weakness	1/5	OMIM:164400
6310	ATXN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:164400
6310	ATXN1	HP:0001310	Dysmetria	HP:0040283	ORPHA:98755
6310	ATXN1	HP:0001310	Dysmetria	-	OMIM:164400
6310	ATXN1	HP:0025401	Staring gaze	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0002015	Dysphagia	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0002015	Dysphagia	-	OMIM:164400
6310	ATXN1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0100543	Cognitive impairment	-	OMIM:164400
6310	ATXN1	HP:0002067	Bradykinesia	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0003394	Muscle spasm	3/5	OMIM:164400
6310	ATXN1	HP:0002078	Truncal ataxia	-	OMIM:164400
6310	ATXN1	HP:0002075	Dysdiadochokinesis	HP:0040283	ORPHA:98755
6310	ATXN1	HP:0002075	Dysdiadochokinesis	-	OMIM:164400
6310	ATXN1	HP:0002072	Chorea	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0002072	Chorea	-	OMIM:164400
6310	ATXN1	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:98755
6310	ATXN1	HP:0002073	Progressive cerebellar ataxia	-	OMIM:164400
6310	ATXN1	HP:0002070	Limb ataxia	-	OMIM:164400
6310	ATXN1	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:164400
6310	ATXN1	HP:0002141	Gait imbalance	HP:0040283	ORPHA:98755
6310	ATXN1	HP:0003487	Babinski sign	-	OMIM:164400
6310	ATXN1	HP:0003448	Decreased sensory nerve conduction velocity	1/9	OMIM:164400
6310	ATXN1	HP:0003431	Decreased motor nerve conduction velocity	2/9	OMIM:164400
6310	ATXN1	HP:0002198	Dilated fourth ventricle	-	OMIM:164400
6310	ATXN1	HP:0002168	Scanning speech	-	OMIM:164400
6310	ATXN1	HP:0002174	Postural tremor	HP:0040283	ORPHA:98755
6310	ATXN1	HP:0003401	Paresthesia	1/5	OMIM:164400
6310	ATXN1	HP:0003581	Adult onset	6/6	OMIM:164400
6310	ATXN1	HP:0007001	Loss of Purkinje cells in the cerebellar vermis	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0007006	Dorsal column degeneration	-	OMIM:164400
6310	ATXN1	HP:0007078	Decreased amplitude of sensory action potentials	9/9	OMIM:164400
6310	ATXN1	HP:0002380	Fasciculations	HP:0040283	ORPHA:98755
6310	ATXN1	HP:0002380	Fasciculations	1/5	OMIM:164400
6310	ATXN1	HP:0003693	Distal amyotrophy	-	OMIM:164400
6310	ATXN1	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:98755
6310	ATXN1	HP:0002354	Memory impairment	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0010831	Impaired proprioception	1/5	OMIM:164400
6310	ATXN1	HP:0010831	Impaired proprioception	HP:0040283	ORPHA:98755
6310	ATXN1	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:98755
6310	ATXN1	HP:0009830	Peripheral neuropathy	-	OMIM:164400
6310	ATXN1	HP:0006801	Hyperactive deep tendon reflexes	HP:0040283	ORPHA:98755
6310	ATXN1	HP:0000640	Gaze-evoked nystagmus	-	OMIM:164400
6310	ATXN1	HP:0000639	Nystagmus	HP:0040283	ORPHA:98755
6310	ATXN1	HP:0000639	Nystagmus	-	OMIM:164400
6310	ATXN1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:98755
6310	ATXN1	HP:0000648	Optic atrophy	-	OMIM:164400
6310	ATXN1	HP:0000641	Dysmetric saccades	-	OMIM:164400
6310	ATXN1	HP:0000623	Supranuclear ophthalmoplegia	-	OMIM:164400
6310	ATXN1	HP:0006937	Impaired distal tactile sensation	2/5	OMIM:164400
6310	ATXN1	HP:0040129	Abnormal nerve conduction velocity	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:98755
6310	ATXN1	HP:0003202	Skeletal muscle atrophy	-	OMIM:164400
6310	ATXN1	HP:0002878	Respiratory failure	HP:0040283	ORPHA:98755
6310	ATXN1	HP:0002839	Urinary bladder sphincter dysfunction	-	OMIM:164400
6310	ATXN1	HP:0007928	Abnormal flash visual evoked potentials	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0030216	Inertia	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0000514	Slow saccadic eye movements	HP:0040282	ORPHA:98755
6310	ATXN1	HP:0000514	Slow saccadic eye movements	-	OMIM:164400
6310	ATXN1	HP:0000597	Ophthalmoparesis	HP:0040283	ORPHA:98755
6310	ATXN1	HP:0000543	Optic disc pallor	-	OMIM:164400
6311	ATXN2	HP:0001151	Impaired horizontal smooth pursuit	-	OMIM:183090
6311	ATXN2	HP:0002495	Impaired vibratory sensation	-	OMIM:183090
6311	ATXN2	HP:0002463	Language impairment	HP:0040283	ORPHA:803
6311	ATXN2	HP:0007311	Short stepped shuffling gait	-	OMIM:168600
6311	ATXN2	HP:0003745	Sporadic	-	OMIM:168600
6311	ATXN2	HP:0003743	Genetic anticipation	-	OMIM:183090
6311	ATXN2	HP:0001290	Generalized hypotonia	-	OMIM:183090
6311	ATXN2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0001272	Cerebellar atrophy	2/3	OMIM:183090
6311	ATXN2	HP:0001252	Hypotonia	-	OMIM:183090
6311	ATXN2	HP:0001251	Ataxia	3/3	OMIM:183090
6311	ATXN2	HP:0001265	Hyporeflexia	-	OMIM:183090
6311	ATXN2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0001260	Dysarthria	-	OMIM:168600
6311	ATXN2	HP:0001260	Dysarthria	3/3	OMIM:183090
6311	ATXN2	HP:0001260	Dysarthria	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
6311	ATXN2	HP:0001257	Spasticity	-	OMIM:183090
6311	ATXN2	HP:0001257	Spasticity	HP:0040282	ORPHA:803
6311	ATXN2	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
6311	ATXN2	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
6311	ATXN2	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
6311	ATXN2	HP:0002542	Olivopontocerebellar atrophy	-	OMIM:183090
6311	ATXN2	HP:0002536	Abnormal cortical gyration	HP:0040283	ORPHA:98756
6311	ATXN2	HP:0002529	Neuronal loss in central nervous system	-	OMIM:168600
6311	ATXN2	HP:0002503	Spinocerebellar tract degeneration	-	OMIM:183090
6311	ATXN2	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
6311	ATXN2	HP:0000020	Urinary incontinence	1/3	OMIM:183090
6311	ATXN2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
6311	ATXN2	HP:0012082	Cerebellar Purkinje layer atrophy	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0001332	Dystonia	-	OMIM:168600
6311	ATXN2	HP:0001332	Dystonia	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0000012	Urinary urgency	-	OMIM:168600
6311	ATXN2	HP:0001337	Tremor	-	OMIM:168600
6311	ATXN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:183090
6311	ATXN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:168600
6311	ATXN2	HP:0001336	Myoclonus	-	OMIM:183090
6311	ATXN2	HP:0001310	Dysmetria	-	OMIM:183090
6311	ATXN2	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
6311	ATXN2	HP:0001300	Parkinsonism	-	OMIM:183090
6311	ATXN2	HP:0001300	Parkinsonism	HP:0040283	ORPHA:98756
6311	ATXN2	HP:0001300	Parkinsonism	-	OMIM:168600
6311	ATXN2	HP:0025461	Abnormal cell morphology	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
6311	ATXN2	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
6311	ATXN2	HP:0002019	Constipation	-	OMIM:168600
6311	ATXN2	HP:0002015	Dysphagia	-	OMIM:168600
6311	ATXN2	HP:0002015	Dysphagia	2/3	OMIM:183090
6311	ATXN2	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
6311	ATXN2	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
6311	ATXN2	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
6311	ATXN2	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
6311	ATXN2	HP:0002067	Bradykinesia	-	OMIM:183090
6311	ATXN2	HP:0002067	Bradykinesia	-	OMIM:168600
6311	ATXN2	HP:0002066	Gait ataxia	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0003394	Muscle spasm	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
6311	ATXN2	HP:0002063	Rigidity	-	OMIM:183090
6311	ATXN2	HP:0002063	Rigidity	-	OMIM:168600
6311	ATXN2	HP:0002075	Dysdiadochokinesis	-	OMIM:183090
6311	ATXN2	HP:0002072	Chorea	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0002073	Progressive cerebellar ataxia	-	OMIM:183090
6311	ATXN2	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:98756
6311	ATXN2	HP:0002070	Limb ataxia	-	OMIM:183090
6311	ATXN2	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
6311	ATXN2	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
6311	ATXN2	HP:0003470	Paralysis	HP:0040282	ORPHA:803
6311	ATXN2	HP:0003487	Babinski sign	1/3	OMIM:183090
6311	ATXN2	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
6311	ATXN2	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
6311	ATXN2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:98756
6311	ATXN2	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
6311	ATXN2	HP:0002198	Dilated fourth ventricle	-	OMIM:183090
6311	ATXN2	HP:0002174	Postural tremor	-	OMIM:183090
6311	ATXN2	HP:0002174	Postural tremor	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0002172	Postural instability	-	OMIM:183090
6311	ATXN2	HP:0002172	Postural instability	-	OMIM:168600
6311	ATXN2	HP:0003587	Insidious onset	-	OMIM:168600
6311	ATXN2	HP:0003584	Late onset	1/3	OMIM:183090
6311	ATXN2	HP:0003584	Late onset	-	OMIM:168600
6311	ATXN2	HP:0003581	Adult onset	-	OMIM:168600
6311	ATXN2	HP:0011960	Substantia nigra gliosis	-	OMIM:168600
6311	ATXN2	HP:0008311	Spinal cord posterior columns myelin loss	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0002380	Fasciculations	-	OMIM:183090
6311	ATXN2	HP:0002380	Fasciculations	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
6311	ATXN2	HP:0003693	Distal amyotrophy	-	OMIM:183090
6311	ATXN2	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
6311	ATXN2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
6311	ATXN2	HP:0002360	Sleep abnormality	-	OMIM:168600
6311	ATXN2	HP:0002345	Action tremor	-	OMIM:183090
6311	ATXN2	HP:0003676	Progressive	-	OMIM:168600
6311	ATXN2	HP:0002322	Resting tremor	-	OMIM:168600
6311	ATXN2	HP:0002317	Unsteady gait	2/3	OMIM:183090
6311	ATXN2	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
6311	ATXN2	HP:0002307	Drooling	HP:0040282	ORPHA:803
6311	ATXN2	HP:0006801	Hyperactive deep tendon reflexes	HP:0040283	ORPHA:98756
6311	ATXN2	HP:0000640	Gaze-evoked nystagmus	-	OMIM:183090
6311	ATXN2	HP:0000639	Nystagmus	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0000641	Dysmetric saccades	-	OMIM:183090
6311	ATXN2	HP:0000623	Supranuclear ophthalmoplegia	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0000602	Ophthalmoplegia	-	OMIM:183090
6311	ATXN2	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
6311	ATXN2	HP:0000657	Oculomotor apraxia	-	OMIM:183090
6311	ATXN2	HP:0004326	Cachexia	HP:0040283	ORPHA:803
6311	ATXN2	HP:0006955	Olivopontocerebellar hypoplasia	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
6311	ATXN2	HP:0031908	Micrographia	-	OMIM:168600
6311	ATXN2	HP:0000751	Personality changes	-	OMIM:168600
6311	ATXN2	HP:0000738	Hallucinations	HP:0040283	OMIM:168600
6311	ATXN2	HP:0000739	Anxiety	HP:0040282	ORPHA:803
6311	ATXN2	HP:0000716	Depression	HP:0040282	ORPHA:803
6311	ATXN2	HP:0000716	Depression	-	OMIM:168600
6311	ATXN2	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
6311	ATXN2	HP:0000726	Dementia	-	OMIM:183090
6311	ATXN2	HP:0000726	Dementia	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0000726	Dementia	-	OMIM:168600
6311	ATXN2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
6311	ATXN2	HP:0011462	Young adult onset	2/3	OMIM:183090
6311	ATXN2	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
6311	ATXN2	HP:0012762	Cerebral white matter atrophy	HP:0040283	ORPHA:98756
6311	ATXN2	HP:0100315	Lewy bodies	-	OMIM:168600
6311	ATXN2	HP:0003133	Abnormality of the spinocerebellar tracts	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
6311	ATXN2	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
6311	ATXN2	HP:0045007	Abnormal substantia nigra morphology	HP:0040281	ORPHA:98756
6311	ATXN2	HP:0000298	Mask-like facies	-	OMIM:168600
6311	ATXN2	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
6311	ATXN2	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
6311	ATXN2	HP:0002839	Urinary bladder sphincter dysfunction	-	OMIM:183090
6311	ATXN2	HP:0012378	Fatigue	HP:0040282	ORPHA:803
6311	ATXN2	HP:0030186	Kinetic tremor	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
6311	ATXN2	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
6311	ATXN2	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
6311	ATXN2	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
6311	ATXN2	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	OMIM:168600
6311	ATXN2	HP:0001621	Weak voice	-	OMIM:168600
6311	ATXN2	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
6311	ATXN2	HP:0000514	Slow saccadic eye movements	-	OMIM:183090
6311	ATXN2	HP:0000514	Slow saccadic eye movements	HP:0040282	ORPHA:98756
6311	ATXN2	HP:0000510	Rod-cone dystrophy	-	OMIM:183090
6311	ATXN2	HP:0001824	Weight loss	HP:0040282	ORPHA:803
6311	ATXN2	HP:0000597	Ophthalmoparesis	HP:0040283	ORPHA:98756
6311	ATXN2	HP:0012531	Pain	HP:0040282	ORPHA:803
6314	ATXN7	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
6314	ATXN7	HP:0003744	Genetic anticipation with paternal anticipation bias	-	OMIM:164500
6314	ATXN7	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0001270	Motor delay	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0001268	Mental deterioration	HP:0040283	OMIM:164500
6314	ATXN7	HP:0001268	Mental deterioration	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0001251	Ataxia	HP:0040280	ORPHA:94147
6314	ATXN7	HP:0001260	Dysarthria	HP:0040280	ORPHA:94147
6314	ATXN7	HP:0001260	Dysarthria	2/2	OMIM:164500
6314	ATXN7	HP:0001263	Global developmental delay	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0001257	Spasticity	-	OMIM:164500
6314	ATXN7	HP:0002542	Olivopontocerebellar atrophy	-	OMIM:164500
6314	ATXN7	HP:0012047	Hemeralopia	HP:0040283	ORPHA:94147
6314	ATXN7	HP:0001347	Hyperreflexia	HP:0040280	ORPHA:94147
6314	ATXN7	HP:0001347	Hyperreflexia	7/7	OMIM:164500
6314	ATXN7	HP:0001324	Muscle weakness	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
6314	ATXN7	HP:0001337	Tremor	2/2	OMIM:164500
6314	ATXN7	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
6314	ATXN7	HP:0000006	Autosomal dominant inheritance	-	OMIM:164500
6314	ATXN7	HP:0001310	Dysmetria	HP:0040280	ORPHA:94147
6314	ATXN7	HP:0001310	Dysmetria	-	OMIM:164500
6314	ATXN7	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
6314	ATXN7	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
6314	ATXN7	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0002015	Dysphagia	HP:0040281	ORPHA:94147
6314	ATXN7	HP:0002015	Dysphagia	-	OMIM:164500
6314	ATXN7	HP:0002075	Dysdiadochokinesis	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0002072	Chorea	-	OMIM:164500
6314	ATXN7	HP:0002073	Progressive cerebellar ataxia	2/2	OMIM:164500
6314	ATXN7	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:164500
6314	ATXN7	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0003474	Somatic sensory dysfunction	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0003487	Babinski sign	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0003487	Babinski sign	-	OMIM:164500
6314	ATXN7	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0001098	Abnormal fundus morphology	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0002310	Orofacial dyskinesia	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0002310	Orofacial dyskinesia	-	OMIM:164500
6314	ATXN7	HP:0003621	Juvenile onset	8/19	OMIM:180100
6314	ATXN7	HP:0000639	Nystagmus	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0000639	Nystagmus	2/2	OMIM:164500
6314	ATXN7	HP:0000648	Optic atrophy	1/2	OMIM:164500
6314	ATXN7	HP:0000618	Blindness	HP:0040283	ORPHA:94147
6314	ATXN7	HP:0000613	Photophobia	HP:0040283	ORPHA:94147
6314	ATXN7	HP:0000623	Supranuclear ophthalmoplegia	-	OMIM:164500
6314	ATXN7	HP:0000608	Macular degeneration	-	OMIM:164500
6314	ATXN7	HP:0000608	Macular degeneration	HP:0040283	ORPHA:94147
6314	ATXN7	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0000662	Nyctalopia	26/28	OMIM:180100
6314	ATXN7	HP:0000709	Psychosis	HP:0040283	ORPHA:94147
6314	ATXN7	HP:0011463	Childhood onset	3/19	OMIM:180100
6314	ATXN7	HP:0011462	Young adult onset	8/19	OMIM:180100
6314	ATXN7	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
6314	ATXN7	HP:0001508	Failure to thrive	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
6314	ATXN7	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0012452	Restless legs	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0000514	Slow saccadic eye movements	-	OMIM:164500
6314	ATXN7	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
6314	ATXN7	HP:0000529	Progressive visual loss	-	OMIM:164500
6314	ATXN7	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0000580	Pigmentary retinopathy	-	OMIM:164500
6314	ATXN7	HP:0000575	Scotoma	5/18	OMIM:180100
6314	ATXN7	HP:0000572	Visual loss	HP:0040282	ORPHA:94147
6314	ATXN7	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:94147
6314	ATXN7	HP:0000543	Optic disc pallor	1/1	OMIM:180100
6314	ATXN7	HP:0000545	Myopia	-	OMIM:180100
6315	ATXN8OS	HP:0002495	Impaired vibratory sensation	HP:0040283	ORPHA:98760
6315	ATXN8OS	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:98760
6315	ATXN8OS	HP:0007311	Short stepped shuffling gait	-	OMIM:168600
6315	ATXN8OS	HP:0007256	Abnormal pyramidal sign	-	OMIM:608768
6315	ATXN8OS	HP:0003745	Sporadic	-	OMIM:168600
6315	ATXN8OS	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:98760
6315	ATXN8OS	HP:0001272	Cerebellar atrophy	-	OMIM:608768
6315	ATXN8OS	HP:0001251	Ataxia	HP:0040282	ORPHA:98760
6315	ATXN8OS	HP:0001260	Dysarthria	-	OMIM:168600
6315	ATXN8OS	HP:0001260	Dysarthria	-	OMIM:608768
6315	ATXN8OS	HP:0001257	Spasticity	HP:0040282	ORPHA:98760
6315	ATXN8OS	HP:0001257	Spasticity	-	OMIM:608768
6315	ATXN8OS	HP:0002529	Neuronal loss in central nervous system	-	OMIM:168600
6315	ATXN8OS	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:98760
6315	ATXN8OS	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:98760
6315	ATXN8OS	HP:0001332	Dystonia	-	OMIM:168600
6315	ATXN8OS	HP:0001332	Dystonia	HP:0040282	ORPHA:98760
6315	ATXN8OS	HP:0000012	Urinary urgency	-	OMIM:168600
6315	ATXN8OS	HP:0001337	Tremor	-	OMIM:168600
6315	ATXN8OS	HP:0001337	Tremor	-	OMIM:608768
6315	ATXN8OS	HP:0000006	Autosomal dominant inheritance	-	OMIM:608768
6315	ATXN8OS	HP:0000006	Autosomal dominant inheritance	-	OMIM:168600
6315	ATXN8OS	HP:0001300	Parkinsonism	-	OMIM:168600
6315	ATXN8OS	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:98760
6315	ATXN8OS	HP:0002019	Constipation	-	OMIM:168600
6315	ATXN8OS	HP:0002015	Dysphagia	-	OMIM:168600
6315	ATXN8OS	HP:0002015	Dysphagia	HP:0040283	ORPHA:98760
6315	ATXN8OS	HP:0002015	Dysphagia	-	OMIM:608768
6315	ATXN8OS	HP:0002067	Bradykinesia	HP:0040282	ORPHA:98760
6315	ATXN8OS	HP:0002067	Bradykinesia	-	OMIM:168600
6315	ATXN8OS	HP:0002066	Gait ataxia	HP:0040282	ORPHA:98760
6315	ATXN8OS	HP:0002063	Rigidity	HP:0040282	ORPHA:98760
6315	ATXN8OS	HP:0002063	Rigidity	-	OMIM:168600
6315	ATXN8OS	HP:0002062	Abnormal pyramidal tract morphology	-	OMIM:608768
6315	ATXN8OS	HP:0002073	Progressive cerebellar ataxia	-	OMIM:608768
6315	ATXN8OS	HP:0002070	Limb ataxia	HP:0040282	ORPHA:98760
6315	ATXN8OS	HP:0002172	Postural instability	HP:0040282	ORPHA:98760
6315	ATXN8OS	HP:0002172	Postural instability	-	OMIM:168600
6315	ATXN8OS	HP:0003587	Insidious onset	-	OMIM:168600
6315	ATXN8OS	HP:0003584	Late onset	-	OMIM:168600
6315	ATXN8OS	HP:0003581	Adult onset	-	OMIM:168600
6315	ATXN8OS	HP:0011960	Substantia nigra gliosis	-	OMIM:168600
6315	ATXN8OS	HP:0002360	Sleep abnormality	-	OMIM:168600
6315	ATXN8OS	HP:0003676	Progressive	-	OMIM:168600
6315	ATXN8OS	HP:0002322	Resting tremor	-	OMIM:168600
6315	ATXN8OS	HP:0002317	Unsteady gait	HP:0040282	ORPHA:98760
6315	ATXN8OS	HP:0009830	Peripheral neuropathy	-	OMIM:608768
6315	ATXN8OS	HP:0002311	Incoordination	-	OMIM:608768
6315	ATXN8OS	HP:0006855	Cerebellar vermis atrophy	HP:0040282	ORPHA:98760
6315	ATXN8OS	HP:0000639	Nystagmus	HP:0040282	ORPHA:98760
6315	ATXN8OS	HP:0000639	Nystagmus	-	OMIM:608768
6315	ATXN8OS	HP:0000641	Dysmetric saccades	-	OMIM:608768
6315	ATXN8OS	HP:0000802	Impotence	HP:0040282	ORPHA:98760
6315	ATXN8OS	HP:0031908	Micrographia	-	OMIM:168600
6315	ATXN8OS	HP:0000751	Personality changes	-	OMIM:168600
6315	ATXN8OS	HP:0000763	Sensory neuropathy	HP:0040283	OMIM:608768
6315	ATXN8OS	HP:0000738	Hallucinations	HP:0040283	OMIM:168600
6315	ATXN8OS	HP:0000716	Depression	HP:0040283	ORPHA:98760
6315	ATXN8OS	HP:0000716	Depression	-	OMIM:168600
6315	ATXN8OS	HP:0000726	Dementia	-	OMIM:168600
6315	ATXN8OS	HP:0100315	Lewy bodies	-	OMIM:168600
6315	ATXN8OS	HP:0000298	Mask-like facies	-	OMIM:168600
6315	ATXN8OS	HP:0000273	Facial grimacing	HP:0040283	ORPHA:98760
6315	ATXN8OS	HP:0007772	Impaired smooth pursuit	HP:0040283	ORPHA:98760
6315	ATXN8OS	HP:0007772	Impaired smooth pursuit	-	OMIM:608768
6315	ATXN8OS	HP:0002835	Aspiration	HP:0040283	ORPHA:98760
6315	ATXN8OS	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	OMIM:168600
6315	ATXN8OS	HP:0001621	Weak voice	-	OMIM:168600
6315	ATXN8OS	HP:0000514	Slow saccadic eye movements	-	OMIM:608768
6323	SCN1A	HP:0002487	Hyperkinetic movements	4/9	OMIM:619317
6323	SCN1A	HP:0001159	Syndactyly	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0002463	Language impairment	HP:0040283	ORPHA:569
6323	SCN1A	HP:0025101	Dysgenesis of the hippocampus	HP:0040283	ORPHA:33069
6323	SCN1A	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040282	ORPHA:1942
6323	SCN1A	HP:0009928	Thick nasal alae	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0007270	Atypical absence seizure	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0007270	Atypical absence seizure	HP:0040282	ORPHA:2382
6323	SCN1A	HP:0007256	Abnormal pyramidal sign	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0007256	Abnormal pyramidal sign	-	OMIM:607208
6323	SCN1A	HP:0020216	Visually-induced seizure	-	OMIM:607208
6323	SCN1A	HP:0007240	Progressive gait ataxia	HP:0040281	ORPHA:33069
6323	SCN1A	HP:0007240	Progressive gait ataxia	HP:0040282	ORPHA:569
6323	SCN1A	HP:0010864	Intellectual disability, severe	3/7	OMIM:607208
6323	SCN1A	HP:0007209	Facial paralysis	HP:0040283	ORPHA:569
6323	SCN1A	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:36387
6323	SCN1A	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2382
6323	SCN1A	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
6323	SCN1A	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
6323	SCN1A	HP:0001276	Hypertonia	HP:0040283	ORPHA:293181
6323	SCN1A	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:569
6323	SCN1A	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:293181
6323	SCN1A	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0001270	Motor delay	-	OMIM:607208
6323	SCN1A	HP:0001269	Hemiparesis	HP:0040282	ORPHA:569
6323	SCN1A	HP:0001269	Hemiparesis	-	OMIM:609634
6323	SCN1A	HP:0001268	Mental deterioration	-	OMIM:607208
6323	SCN1A	HP:0001268	Mental deterioration	HP:0040282	ORPHA:2382
6323	SCN1A	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0001289	Confusion	HP:0040282	ORPHA:569
6323	SCN1A	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0001250	Seizure	HP:0040282	ORPHA:442835
6323	SCN1A	HP:0001250	Seizure	-	OMIM:609634
6323	SCN1A	HP:0001252	Hypotonia	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0001252	Hypotonia	HP:0040282	ORPHA:293181
6323	SCN1A	HP:0001252	Hypotonia	HP:0040283	ORPHA:36387
6323	SCN1A	HP:0001252	Hypotonia	9/9	OMIM:619317
6323	SCN1A	HP:0001251	Ataxia	15/17	OMIM:607208
6323	SCN1A	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0001251	Ataxia	HP:0040283	ORPHA:1942
6323	SCN1A	HP:0001251	Ataxia	1/9	OMIM:619317
6323	SCN1A	HP:0001251	Ataxia	HP:0040283	ORPHA:36387
6323	SCN1A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2382
6323	SCN1A	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
6323	SCN1A	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1942
6323	SCN1A	HP:0001249	Intellectual disability	HP:0040284	ORPHA:569
6323	SCN1A	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
6323	SCN1A	HP:0001266	Choreoathetosis	5/9	OMIM:619317
6323	SCN1A	HP:0001260	Dysarthria	HP:0040282	ORPHA:569
6323	SCN1A	HP:0001263	Global developmental delay	-	OMIM:607208
6323	SCN1A	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
6323	SCN1A	HP:0001263	Global developmental delay	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0001263	Global developmental delay	9/9	OMIM:619317
6323	SCN1A	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0001259	Coma	HP:0040283	ORPHA:569
6323	SCN1A	HP:0008770	Obsessive-compulsive trait	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0008770	Obsessive-compulsive trait	HP:0040284	ORPHA:36387
6323	SCN1A	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:1942
6323	SCN1A	HP:0100851	Abnormal emotional state	HP:0040283	ORPHA:1942
6323	SCN1A	HP:0007359	Focal-onset seizure	6/9	OMIM:619317
6323	SCN1A	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:2382
6323	SCN1A	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:36387
6323	SCN1A	HP:0007359	Focal-onset seizure	HP:0040281	ORPHA:33069
6323	SCN1A	HP:0007359	Focal-onset seizure	-	OMIM:604403
6323	SCN1A	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:293181
6323	SCN1A	HP:0002540	Inability to walk	HP:0040281	ORPHA:293181
6323	SCN1A	HP:0002540	Inability to walk	9/9	OMIM:619317
6323	SCN1A	HP:0002539	Cortical dysplasia	HP:0040283	ORPHA:36387
6323	SCN1A	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:293181
6323	SCN1A	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0002527	Falls	HP:0040282	ORPHA:2382
6323	SCN1A	HP:0003828	Variable expressivity	-	OMIM:604403
6323	SCN1A	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
6323	SCN1A	HP:0012075	Personality disorder	HP:0040282	ORPHA:2382
6323	SCN1A	HP:0012044	Seesaw nystagmus	HP:0040283	ORPHA:569
6323	SCN1A	HP:0001348	Brisk reflexes	1/9	OMIM:619317
6323	SCN1A	HP:0032506	Alien limb phenomenon	HP:0040283	ORPHA:569
6323	SCN1A	HP:0031179	Nuchal rigidity	HP:0040283	ORPHA:569
6323	SCN1A	HP:0001332	Dystonia	4/9	OMIM:619317
6323	SCN1A	HP:0001327	Photosensitive myoclonic seizure	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0001324	Muscle weakness	HP:0040281	ORPHA:569
6323	SCN1A	HP:0001326	EEG with irregular generalized spike and wave complexes	HP:0040283	ORPHA:1942
6323	SCN1A	HP:0001344	Absent speech	8/9	OMIM:619317
6323	SCN1A	HP:0001337	Tremor	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0001337	Tremor	HP:0040283	ORPHA:1942
6323	SCN1A	HP:0001337	Tremor	HP:0040284	ORPHA:36387
6323	SCN1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:604403
6323	SCN1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:619317
6323	SCN1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:607208
6323	SCN1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:609634
6323	SCN1A	HP:0001336	Myoclonus	HP:0040282	ORPHA:2382
6323	SCN1A	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0001336	Myoclonus	6/9	OMIM:619317
6323	SCN1A	HP:0001336	Myoclonus	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0001308	Tongue fasciculations	HP:0040282	ORPHA:569
6323	SCN1A	HP:0002650	Scoliosis	2/9	OMIM:619317
6323	SCN1A	HP:0002650	Scoliosis	HP:0040283	ORPHA:293181
6323	SCN1A	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0001300	Parkinsonism	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0000179	Thick lower lip vermilion	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0000160	Narrow mouth	1/9	OMIM:619317
6323	SCN1A	HP:0000154	Wide mouth	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0008959	Distal upper limb muscle weakness	HP:0040283	ORPHA:569
6323	SCN1A	HP:0008947	Floppy infant	HP:0040283	ORPHA:33069
6323	SCN1A	HP:0008936	Axial hypotonia	5/9	OMIM:619317
6323	SCN1A	HP:0004684	Talipes valgus	HP:0040284	ORPHA:36387
6323	SCN1A	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:293181
6323	SCN1A	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:36387
6323	SCN1A	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:293181
6323	SCN1A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:2382
6323	SCN1A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:36387
6323	SCN1A	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:604403
6323	SCN1A	HP:0002069	Bilateral tonic-clonic seizure	7/7	OMIM:607208
6323	SCN1A	HP:0002069	Bilateral tonic-clonic seizure	9/9	OMIM:619317
6323	SCN1A	HP:0002067	Bradykinesia	HP:0040284	ORPHA:36387
6323	SCN1A	HP:0002067	Bradykinesia	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0002063	Rigidity	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0003392	First dorsal interossei muscle weakness	HP:0040284	ORPHA:569
6323	SCN1A	HP:0002077	Migraine with aura	18/18	OMIM:609634
6323	SCN1A	HP:0002077	Migraine with aura	HP:0040281	ORPHA:569
6323	SCN1A	HP:0002072	Chorea	1/9	OMIM:619317
6323	SCN1A	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:293181
6323	SCN1A	HP:0002059	Cerebral atrophy	-	OMIM:607208
6323	SCN1A	HP:0100576	Amaurosis fugax	HP:0040284	ORPHA:569
6323	SCN1A	HP:0002123	Generalized myoclonic seizure	-	OMIM:607208
6323	SCN1A	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:2382
6323	SCN1A	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:36387
6323	SCN1A	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0002123	Generalized myoclonic seizure	-	OMIM:604403
6323	SCN1A	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:1942
6323	SCN1A	HP:0002121	Generalized non-motor (absence) seizure	4/7	OMIM:607208
6323	SCN1A	HP:0002121	Generalized non-motor (absence) seizure	3/9	OMIM:619317
6323	SCN1A	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:36387
6323	SCN1A	HP:0002121	Generalized non-motor (absence) seizure	-	OMIM:604403
6323	SCN1A	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:1942
6323	SCN1A	HP:0002133	Status epilepticus	-	OMIM:607208
6323	SCN1A	HP:0002133	Status epilepticus	HP:0040284	ORPHA:569
6323	SCN1A	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
6323	SCN1A	HP:0002133	Status epilepticus	HP:0040284	ORPHA:36387
6323	SCN1A	HP:0002187	Intellectual disability, profound	9/9	OMIM:619317
6323	SCN1A	HP:0002183	Phonophobia	16/17	OMIM:609634
6323	SCN1A	HP:0002181	Cerebral edema	HP:0040282	ORPHA:569
6323	SCN1A	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:36387
6323	SCN1A	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:569
6323	SCN1A	HP:0002172	Postural instability	HP:0040282	ORPHA:569
6323	SCN1A	HP:0010544	Vertical nystagmus	HP:0040283	ORPHA:569
6323	SCN1A	HP:0010533	Spasmus nutans	1/9	OMIM:619317
6323	SCN1A	HP:0033258	Sudden unexpected death in epilepsy	1/9	OMIM:619317
6323	SCN1A	HP:0003401	Paresthesia	HP:0040282	ORPHA:569
6323	SCN1A	HP:0003593	Infantile onset	7/7	OMIM:607208
6323	SCN1A	HP:0003593	Infantile onset	9/9	OMIM:619317
6323	SCN1A	HP:0100704	Cerebral visual impairment	-	OMIM:607208
6323	SCN1A	HP:0100702	Arachnoid cyst	2/9	OMIM:619317
6323	SCN1A	HP:0100710	Impulsivity	HP:0040283	ORPHA:33069
6323	SCN1A	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0200149	CSF lymphocytic pleiocytosis	HP:0040282	ORPHA:569
6323	SCN1A	HP:0200134	Epileptic encephalopathy	-	OMIM:607208
6323	SCN1A	HP:0200134	Epileptic encephalopathy	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:33069
6323	SCN1A	HP:0002292	Frontal balding	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:33069
6323	SCN1A	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:36387
6323	SCN1A	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:1942
6323	SCN1A	HP:0032044	Decreased vigilance	HP:0040283	ORPHA:569
6323	SCN1A	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0007058	Generalized cerebral atrophy/hypoplasia	HP:0040283	ORPHA:36387
6323	SCN1A	HP:0002384	Focal impaired awareness seizure	1/7	OMIM:607208
6323	SCN1A	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:293181
6323	SCN1A	HP:0002384	Focal impaired awareness seizure	HP:0040284	ORPHA:36387
6323	SCN1A	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0002381	Aphasia	HP:0040283	ORPHA:569
6323	SCN1A	HP:0002396	Cogwheel rigidity	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0002392	EEG with polyspike wave complexes	HP:0040282	ORPHA:1942
6323	SCN1A	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:2382
6323	SCN1A	HP:0002376	Developmental regression	HP:0040281	ORPHA:293181
6323	SCN1A	HP:0002376	Developmental regression	HP:0040283	ORPHA:2382
6323	SCN1A	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
6323	SCN1A	HP:0002376	Developmental regression	HP:0040283	ORPHA:36387
6323	SCN1A	HP:0002376	Developmental regression	-	OMIM:607208
6323	SCN1A	HP:0002376	Developmental regression	HP:0040281	ORPHA:33069
6323	SCN1A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:36387
6323	SCN1A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	-	OMIM:604403
6323	SCN1A	HP:0002345	Action tremor	HP:0040283	ORPHA:33069
6323	SCN1A	HP:0002342	Intellectual disability, moderate	4/7	OMIM:607208
6323	SCN1A	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2382
6323	SCN1A	HP:0002353	EEG abnormality	HP:0040281	ORPHA:569
6323	SCN1A	HP:0002349	Focal aware seizure	1/7	OMIM:607208
6323	SCN1A	HP:0002349	Focal aware seizure	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0002321	Vertigo	HP:0040282	ORPHA:569
6323	SCN1A	HP:0002321	Vertigo	HP:0040283	ORPHA:2382
6323	SCN1A	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0002317	Unsteady gait	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0002332	Lack of peer relationships	HP:0040282	ORPHA:1942
6323	SCN1A	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	3/9	OMIM:619317
6323	SCN1A	HP:0010841	Multifocal epileptiform discharges	9/9	OMIM:619317
6323	SCN1A	HP:0010841	Multifocal epileptiform discharges	HP:0040281	ORPHA:293181
6323	SCN1A	HP:0010841	Multifocal epileptiform discharges	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0010845	EEG with generalized slow activity	HP:0040283	ORPHA:1942
6323	SCN1A	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
6323	SCN1A	HP:0007207	Photosensitive tonic-clonic seizure	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0010835	Dissociated sensory loss	HP:0040282	ORPHA:569
6323	SCN1A	HP:0010833	Spontaneous pain sensation	HP:0040283	ORPHA:569
6323	SCN1A	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:569
6323	SCN1A	HP:0010821	Focal emotional seizure with laughing	HP:0040282	ORPHA:293181
6323	SCN1A	HP:0010819	Atonic seizure	-	OMIM:607208
6323	SCN1A	HP:0010819	Atonic seizure	-	OMIM:604403
6323	SCN1A	HP:0010819	Atonic seizure	HP:0040282	ORPHA:1942
6323	SCN1A	HP:0010819	Atonic seizure	HP:0040282	ORPHA:2382
6323	SCN1A	HP:0010819	Atonic seizure	HP:0040283	ORPHA:36387
6323	SCN1A	HP:0010818	Generalized tonic seizure	HP:0040284	ORPHA:33069
6323	SCN1A	HP:0010818	Generalized tonic seizure	-	OMIM:604403
6323	SCN1A	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:2382
6323	SCN1A	HP:0100678	Premature skin wrinkling	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0200048	Cyanotic episode	HP:0040283	ORPHA:33069
6323	SCN1A	HP:0100694	Tibial torsion	HP:0040283	ORPHA:33069
6323	SCN1A	HP:0100694	Tibial torsion	HP:0040284	ORPHA:36387
6323	SCN1A	HP:0002301	Hemiplegia	HP:0040283	ORPHA:569
6323	SCN1A	HP:0002301	Hemiplegia	-	OMIM:609634
6323	SCN1A	HP:0002311	Incoordination	HP:0040283	ORPHA:33069
6323	SCN1A	HP:0002311	Incoordination	HP:0040283	ORPHA:36387
6323	SCN1A	HP:0002307	Drooling	HP:0040283	ORPHA:33069
6323	SCN1A	HP:0003621	Juvenile onset	16/17	OMIM:609634
6323	SCN1A	HP:0031834	Aortopulmonary collateral arteries	HP:0040283	ORPHA:293181
6323	SCN1A	HP:0006813	Focal hemiclonic seizure	-	OMIM:604403
6323	SCN1A	HP:0006813	Focal hemiclonic seizure	-	OMIM:607208
6323	SCN1A	HP:0006813	Focal hemiclonic seizure	2/9	OMIM:619317
6323	SCN1A	HP:0006813	Focal hemiclonic seizure	HP:0040282	ORPHA:293181
6323	SCN1A	HP:0006813	Focal hemiclonic seizure	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0000639	Nystagmus	2/9	OMIM:619317
6323	SCN1A	HP:0000651	Diplopia	HP:0040282	ORPHA:569
6323	SCN1A	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
6323	SCN1A	HP:0000618	Blindness	-	OMIM:609634
6323	SCN1A	HP:0000613	Photophobia	16/18	OMIM:609634
6323	SCN1A	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0004322	Short stature	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:293181
6323	SCN1A	HP:0004305	Involuntary movements	HP:0040282	ORPHA:569
6323	SCN1A	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0003066	Limited knee extension	HP:0040283	ORPHA:33069
6323	SCN1A	HP:0003066	Limited knee extension	HP:0040284	ORPHA:36387
6323	SCN1A	HP:0000752	Hyperactivity	HP:0040282	ORPHA:2382
6323	SCN1A	HP:0000752	Hyperactivity	HP:0040282	ORPHA:1942
6323	SCN1A	HP:0000737	Irritability	HP:0040282	ORPHA:2382
6323	SCN1A	HP:0000739	Anxiety	HP:0040284	ORPHA:36387
6323	SCN1A	HP:0000739	Anxiety	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0000733	Motor stereotypy	1/9	OMIM:619317
6323	SCN1A	HP:0000736	Short attention span	HP:0040283	ORPHA:33069
6323	SCN1A	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
6323	SCN1A	HP:0000750	Delayed speech and language development	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0000741	Apathy	HP:0040283	ORPHA:2382
6323	SCN1A	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:2382
6323	SCN1A	HP:0000717	Autism	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1942
6323	SCN1A	HP:0000729	Autistic behavior	HP:0040282	ORPHA:2382
6323	SCN1A	HP:0000729	Autistic behavior	HP:0040284	ORPHA:36387
6323	SCN1A	HP:0000729	Autistic behavior	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0000709	Psychosis	HP:0040283	ORPHA:2382
6323	SCN1A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2382
6323	SCN1A	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0011468	Facial tics	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0011468	Facial tics	HP:0040282	ORPHA:569
6323	SCN1A	HP:0011471	Gastrostomy tube feeding in infancy	9/9	OMIM:619317
6323	SCN1A	HP:0011463	Childhood onset	-	OMIM:604403
6323	SCN1A	HP:0011462	Young adult onset	1/17	OMIM:609634
6323	SCN1A	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
6323	SCN1A	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:293181
6323	SCN1A	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:2382
6323	SCN1A	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:1942
6323	SCN1A	HP:0030786	Photopsia	HP:0040282	ORPHA:569
6323	SCN1A	HP:0012847	Epilepsia partialis continua	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0000826	Precocious puberty	HP:0040284	ORPHA:293181
6323	SCN1A	HP:0000980	Pallor	HP:0040283	ORPHA:33069
6323	SCN1A	HP:0008081	Pes valgus	HP:0040283	ORPHA:33069
6323	SCN1A	HP:0000289	Broad philtrum	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0012229	CSF pleocytosis	HP:0040282	ORPHA:569
6323	SCN1A	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0000252	Microcephaly	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0000252	Microcephaly	HP:0040282	ORPHA:293181
6323	SCN1A	HP:0000219	Thin upper lip vermilion	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0025517	Hypoplastic hippocampus	5/9	OMIM:619317
6323	SCN1A	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
6323	SCN1A	HP:0001508	Failure to thrive	HP:0040283	ORPHA:293181
6323	SCN1A	HP:0011097	Epileptic spasm	5/9	OMIM:619317
6323	SCN1A	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:293181
6323	SCN1A	HP:0011097	Epileptic spasm	-	ORPHA:1942
6323	SCN1A	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:569
6323	SCN1A	HP:0000365	Hearing impairment	HP:0040282	ORPHA:569
6323	SCN1A	HP:0000360	Tinnitus	HP:0040283	ORPHA:569
6323	SCN1A	HP:0000343	Long philtrum	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0032792	Tonic seizure	5/9	OMIM:619317
6323	SCN1A	HP:0000348	High forehead	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0000348	High forehead	1/9	OMIM:619317
6323	SCN1A	HP:0032794	Myoclonic seizure	7/7	OMIM:607208
6323	SCN1A	HP:0032794	Myoclonic seizure	7/9	OMIM:619317
6323	SCN1A	HP:0032794	Myoclonic seizure	HP:0040282	ORPHA:293181
6323	SCN1A	HP:0000316	Hypertelorism	1/9	OMIM:619317
6323	SCN1A	HP:0031475	Status epilepticus without prominent motor symptoms	4/9	OMIM:619317
6323	SCN1A	HP:0031475	Status epilepticus without prominent motor symptoms	HP:0040283	ORPHA:33069
6323	SCN1A	HP:0011196	EEG with focal sharp waves	HP:0040284	ORPHA:569
6323	SCN1A	HP:0011195	EEG with focal sharp slow waves	HP:0040281	ORPHA:2382
6323	SCN1A	HP:0011199	EEG with generalized sharp slow waves	HP:0040283	ORPHA:569
6323	SCN1A	HP:0011198	EEG with generalized epileptiform discharges	HP:0040283	ORPHA:33069
6323	SCN1A	HP:0011197	EEG with focal spike waves	HP:0040281	ORPHA:1942
6323	SCN1A	HP:0011185	EEG with focal epileptiform discharges	HP:0040283	ORPHA:33069
6323	SCN1A	HP:0011182	Interictal epileptiform activity	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0011182	Interictal epileptiform activity	HP:0040283	ORPHA:1942
6323	SCN1A	HP:0011169	Generalized clonic seizure	2/7	OMIM:607208
6323	SCN1A	HP:0011169	Generalized clonic seizure	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0011172	Complex febrile seizure	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0011172	Complex febrile seizure	HP:0040282	ORPHA:569
6323	SCN1A	HP:0011171	Simple febrile seizure	HP:0040283	ORPHA:1942
6323	SCN1A	HP:0011170	Generalized myoclonic-atonic seizure	HP:0040281	ORPHA:1942
6323	SCN1A	HP:0011157	Focal sensory seizure	HP:0040281	ORPHA:569
6323	SCN1A	HP:0011151	Atypical absence status epilepticus	HP:0040283	ORPHA:36387
6323	SCN1A	HP:0011150	Myoclonic absence seizure	1/9	OMIM:619317
6323	SCN1A	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:569
6323	SCN1A	HP:0007979	Gaze-evoked horizontal nystagmus	HP:0040283	ORPHA:569
6323	SCN1A	HP:0032901	Focal pedal automatism seizure	HP:0040282	ORPHA:569
6323	SCN1A	HP:0032900	Focal manual automatism seizure	HP:0040282	ORPHA:569
6323	SCN1A	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0012448	Delayed myelination	HP:0040283	ORPHA:293181
6323	SCN1A	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0000466	Limited neck range of motion	HP:0040282	ORPHA:33069
6323	SCN1A	HP:0001763	Pes planus	HP:0040284	ORPHA:36387
6323	SCN1A	HP:0001763	Pes planus	HP:0040283	ORPHA:33069
6323	SCN1A	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0005484	Secondary microcephaly	-	OMIM:607208
6323	SCN1A	HP:0012508	Metamorphopsia	HP:0040282	ORPHA:569
6323	SCN1A	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
6323	SCN1A	HP:0000505	Visual impairment	HP:0040283	ORPHA:293181
6323	SCN1A	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
6323	SCN1A	HP:0000575	Scotoma	HP:0040282	ORPHA:569
6323	SCN1A	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
6323	SCN1A	HP:0011220	Prominent forehead	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0000568	Microphthalmia	HP:0040284	ORPHA:1942
6323	SCN1A	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
6324	SCN1B	HP:0025101	Dysgenesis of the hippocampus	HP:0040283	ORPHA:33069
6324	SCN1B	HP:0007281	Developmental stagnation	-	OMIM:617350
6324	SCN1B	HP:0007270	Atypical absence seizure	-	OMIM:617350
6324	SCN1B	HP:0007270	Atypical absence seizure	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0007256	Abnormal pyramidal sign	-	OMIM:617350
6324	SCN1B	HP:0007240	Progressive gait ataxia	HP:0040281	ORPHA:33069
6324	SCN1B	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:1934
6324	SCN1B	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:36387
6324	SCN1B	HP:0002421	Poor head control	HP:0040282	ORPHA:1934
6324	SCN1B	HP:0001290	Generalized hypotonia	1/1	OMIM:617350
6324	SCN1B	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0001279	Syncope	HP:0040282	ORPHA:334
6324	SCN1B	HP:0001279	Syncope	HP:0040282	ORPHA:871
6324	SCN1B	HP:0001279	Syncope	HP:0040282	ORPHA:130
6324	SCN1B	HP:0001254	Lethargy	HP:0040282	ORPHA:1934
6324	SCN1B	HP:0001250	Seizure	-	OMIM:617350
6324	SCN1B	HP:0001250	Seizure	HP:0040280	ORPHA:1934
6324	SCN1B	HP:0001252	Hypotonia	HP:0040283	ORPHA:36387
6324	SCN1B	HP:0001251	Ataxia	HP:0040283	ORPHA:36387
6324	SCN1B	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1934
6324	SCN1B	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0001263	Global developmental delay	-	OMIM:617350
6324	SCN1B	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1934
6324	SCN1B	HP:0001257	Spasticity	-	OMIM:617350
6324	SCN1B	HP:0001257	Spasticity	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0008770	Obsessive-compulsive trait	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0008770	Obsessive-compulsive trait	HP:0040284	ORPHA:36387
6324	SCN1B	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:36387
6324	SCN1B	HP:0007359	Focal-onset seizure	HP:0040281	ORPHA:33069
6324	SCN1B	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0002539	Cortical dysplasia	HP:0040283	ORPHA:36387
6324	SCN1B	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:1934
6324	SCN1B	HP:0003829	Typified by incomplete penetrance	-	OMIM:604233
6324	SCN1B	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0003819	Death in childhood	1/1	OMIM:617350
6324	SCN1B	HP:0000070	Ureterocele	HP:0040284	ORPHA:1934
6324	SCN1B	HP:0000054	Micropenis	HP:0040284	ORPHA:1934
6324	SCN1B	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1934
6324	SCN1B	HP:0001332	Dystonia	HP:0040284	ORPHA:1934
6324	SCN1B	HP:0001327	Photosensitive myoclonic seizure	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0000007	Autosomal recessive inheritance	-	OMIM:617350
6324	SCN1B	HP:0001337	Tremor	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0001337	Tremor	HP:0040284	ORPHA:36387
6324	SCN1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:612838
6324	SCN1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:604233
6324	SCN1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:615377
6324	SCN1B	HP:0001336	Myoclonus	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0001336	Myoclonus	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0001302	Pachygyria	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0001300	Parkinsonism	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0000175	Cleft palate	HP:0040284	ORPHA:1934
6324	SCN1B	HP:0008947	Floppy infant	HP:0040283	ORPHA:33069
6324	SCN1B	HP:0008947	Floppy infant	HP:0040282	ORPHA:1934
6324	SCN1B	HP:0031295	Left atrial enlargement	1/2	OMIM:615377
6324	SCN1B	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:1934
6324	SCN1B	HP:0004684	Talipes valgus	HP:0040284	ORPHA:36387
6324	SCN1B	HP:0002033	Poor suck	HP:0040282	ORPHA:1934
6324	SCN1B	HP:0002027	Abdominal pain	HP:0040282	ORPHA:871
6324	SCN1B	HP:0002015	Dysphagia	HP:0040282	ORPHA:1934
6324	SCN1B	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:36387
6324	SCN1B	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
6324	SCN1B	HP:0002094	Dyspnea	HP:0040282	ORPHA:871
6324	SCN1B	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:36387
6324	SCN1B	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:617350
6324	SCN1B	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:604233
6324	SCN1B	HP:0002067	Bradykinesia	HP:0040284	ORPHA:36387
6324	SCN1B	HP:0002067	Bradykinesia	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0002063	Rigidity	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0002070	Limb ataxia	-	OMIM:617350
6324	SCN1B	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
6324	SCN1B	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
6324	SCN1B	HP:0011710	Bundle branch block	HP:0040282	ORPHA:871
6324	SCN1B	HP:0011710	Bundle branch block	-	OMIM:612838
6324	SCN1B	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
6324	SCN1B	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
6324	SCN1B	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:36387
6324	SCN1B	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0002123	Generalized myoclonic seizure	1/1	OMIM:617350
6324	SCN1B	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:1934
6324	SCN1B	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:36387
6324	SCN1B	HP:0002121	Generalized non-motor (absence) seizure	-	OMIM:604233
6324	SCN1B	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0002133	Status epilepticus	HP:0040284	ORPHA:36387
6324	SCN1B	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0004757	Paroxysmal atrial fibrillation	2/2	OMIM:615377
6324	SCN1B	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
6324	SCN1B	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
6324	SCN1B	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:36387
6324	SCN1B	HP:0003596	Middle age onset	2/2	OMIM:615377
6324	SCN1B	HP:0003593	Infantile onset	1/1	OMIM:617350
6324	SCN1B	HP:0100710	Impulsivity	HP:0040283	ORPHA:33069
6324	SCN1B	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
6324	SCN1B	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1934
6324	SCN1B	HP:0200134	Epileptic encephalopathy	-	OMIM:617350
6324	SCN1B	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:1934
6324	SCN1B	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:33069
6324	SCN1B	HP:0100749	Chest pain	HP:0040282	ORPHA:334
6324	SCN1B	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:33069
6324	SCN1B	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:36387
6324	SCN1B	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1934
6324	SCN1B	HP:0007058	Generalized cerebral atrophy/hypoplasia	HP:0040283	ORPHA:36387
6324	SCN1B	HP:0002384	Focal impaired awareness seizure	HP:0040284	ORPHA:36387
6324	SCN1B	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0002396	Cogwheel rigidity	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:1934
6324	SCN1B	HP:0002376	Developmental regression	HP:0040283	ORPHA:36387
6324	SCN1B	HP:0002376	Developmental regression	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0002376	Developmental regression	HP:0040281	ORPHA:33069
6324	SCN1B	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:36387
6324	SCN1B	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	-	OMIM:617350
6324	SCN1B	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	-	OMIM:604233
6324	SCN1B	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0002345	Action tremor	HP:0040283	ORPHA:33069
6324	SCN1B	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1934
6324	SCN1B	HP:0002349	Focal aware seizure	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0002321	Vertigo	HP:0040282	ORPHA:334
6324	SCN1B	HP:0002321	Vertigo	HP:0040282	ORPHA:871
6324	SCN1B	HP:0010841	Multifocal epileptiform discharges	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0007207	Photosensitive tonic-clonic seizure	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0010819	Atonic seizure	-	OMIM:604233
6324	SCN1B	HP:0010819	Atonic seizure	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0010819	Atonic seizure	HP:0040283	ORPHA:36387
6324	SCN1B	HP:0010818	Generalized tonic seizure	HP:0040284	ORPHA:33069
6324	SCN1B	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0200048	Cyanotic episode	HP:0040283	ORPHA:33069
6324	SCN1B	HP:0100694	Tibial torsion	HP:0040283	ORPHA:33069
6324	SCN1B	HP:0100694	Tibial torsion	HP:0040284	ORPHA:36387
6324	SCN1B	HP:0002311	Incoordination	HP:0040283	ORPHA:33069
6324	SCN1B	HP:0002311	Incoordination	HP:0040283	ORPHA:36387
6324	SCN1B	HP:0002307	Drooling	HP:0040283	ORPHA:33069
6324	SCN1B	HP:0006813	Focal hemiclonic seizure	-	OMIM:617350
6324	SCN1B	HP:0006813	Focal hemiclonic seizure	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0001962	Palpitations	HP:0040282	ORPHA:334
6324	SCN1B	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
6324	SCN1B	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
6324	SCN1B	HP:0003066	Limited knee extension	HP:0040283	ORPHA:33069
6324	SCN1B	HP:0003066	Limited knee extension	HP:0040284	ORPHA:36387
6324	SCN1B	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0012722	Heart block	HP:0040282	ORPHA:871
6324	SCN1B	HP:0000739	Anxiety	HP:0040284	ORPHA:36387
6324	SCN1B	HP:0000739	Anxiety	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0000736	Short attention span	HP:0040283	ORPHA:33069
6324	SCN1B	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0000729	Autistic behavior	HP:0040284	ORPHA:36387
6324	SCN1B	HP:0000729	Autistic behavior	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0010174	Broad phalanx of the toes	HP:0040284	ORPHA:1934
6324	SCN1B	HP:0011468	Facial tics	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0012847	Epilepsia partialis continua	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1934
6324	SCN1B	HP:0000980	Pallor	HP:0040283	ORPHA:33069
6324	SCN1B	HP:0008081	Pes valgus	HP:0040283	ORPHA:33069
6324	SCN1B	HP:0009381	Short finger	HP:0040284	ORPHA:1934
6324	SCN1B	HP:0011675	Arrhythmia	HP:0040282	ORPHA:871
6324	SCN1B	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
6324	SCN1B	HP:0012251	ST segment elevation	-	OMIM:612838
6324	SCN1B	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
6324	SCN1B	HP:0000252	Microcephaly	HP:0040284	ORPHA:1934
6324	SCN1B	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1934
6324	SCN1B	HP:0001508	Failure to thrive	HP:0040284	ORPHA:1934
6324	SCN1B	HP:0001500	Broad finger	HP:0040284	ORPHA:1934
6324	SCN1B	HP:0012378	Fatigue	HP:0040282	ORPHA:334
6324	SCN1B	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
6324	SCN1B	HP:0000340	Sloping forehead	HP:0040284	ORPHA:1934
6324	SCN1B	HP:0001650	Aortic valve stenosis	1/2	OMIM:615377
6324	SCN1B	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
6324	SCN1B	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
6324	SCN1B	HP:0001663	Ventricular fibrillation	-	OMIM:612838
6324	SCN1B	HP:0031475	Status epilepticus without prominent motor symptoms	HP:0040283	ORPHA:33069
6324	SCN1B	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
6324	SCN1B	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:1934
6324	SCN1B	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:871
6324	SCN1B	HP:0011198	EEG with generalized epileptiform discharges	HP:0040283	ORPHA:33069
6324	SCN1B	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0011185	EEG with focal epileptiform discharges	HP:0040283	ORPHA:33069
6324	SCN1B	HP:0011182	Interictal epileptiform activity	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0011169	Generalized clonic seizure	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0011172	Complex febrile seizure	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:1934
6324	SCN1B	HP:0011151	Atypical absence status epilepticus	HP:0040283	ORPHA:36387
6324	SCN1B	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:1934
6324	SCN1B	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
6324	SCN1B	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:1934
6324	SCN1B	HP:0000486	Strabismus	HP:0040284	ORPHA:1934
6324	SCN1B	HP:0012469	Infantile spasms	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1934
6324	SCN1B	HP:0012448	Delayed myelination	HP:0040283	ORPHA:1934
6324	SCN1B	HP:0000466	Limited neck range of motion	HP:0040282	ORPHA:33069
6324	SCN1B	HP:0001763	Pes planus	HP:0040284	ORPHA:36387
6324	SCN1B	HP:0001763	Pes planus	HP:0040283	ORPHA:33069
6324	SCN1B	HP:0012554	Absent thumbnail	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0002487	Hyperkinetic movements	1/1	OMIM:613721
6326	SCN2A	HP:0002483	Bulbar signs	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0025101	Dysgenesis of the hippocampus	HP:0040283	ORPHA:33069
6326	SCN2A	HP:0007270	Atypical absence seizure	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0020221	Clonic seizure	1/4	OMIM:618924
6326	SCN2A	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0007240	Progressive gait ataxia	HP:0040281	ORPHA:33069
6326	SCN2A	HP:0010864	Intellectual disability, severe	1/1	OMIM:613721
6326	SCN2A	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:1934
6326	SCN2A	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:36387
6326	SCN2A	HP:0002421	Poor head control	HP:0040282	ORPHA:1934
6326	SCN2A	HP:0001298	Encephalopathy	1/1	OMIM:618924
6326	SCN2A	HP:0001276	Hypertonia	HP:0040283	ORPHA:293181
6326	SCN2A	HP:0001276	Hypertonia	HP:0040283	ORPHA:306
6326	SCN2A	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:293181
6326	SCN2A	HP:0001268	Mental deterioration	HP:0040284	ORPHA:140927
6326	SCN2A	HP:0001284	Areflexia	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0001254	Lethargy	HP:0040282	ORPHA:1934
6326	SCN2A	HP:0001250	Seizure	HP:0040280	ORPHA:1934
6326	SCN2A	HP:0001250	Seizure	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0001250	Seizure	1/1	OMIM:618924
6326	SCN2A	HP:0001252	Hypotonia	HP:0040282	ORPHA:293181
6326	SCN2A	HP:0001252	Hypotonia	HP:0040283	ORPHA:36387
6326	SCN2A	HP:0001252	Hypotonia	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0001251	Ataxia	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0001251	Ataxia	HP:0040283	ORPHA:36387
6326	SCN2A	HP:0002579	Gastrointestinal dysmotility	HP:0040281	ORPHA:2131
6326	SCN2A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1934
6326	SCN2A	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0001260	Dysarthria	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1934
6326	SCN2A	HP:0001263	Global developmental delay	-	OMIM:613721
6326	SCN2A	HP:0001257	Spasticity	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0008770	Obsessive-compulsive trait	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0008770	Obsessive-compulsive trait	HP:0040284	ORPHA:36387
6326	SCN2A	HP:0410263	Brain imaging abnormality	-	ORPHA:2131
6326	SCN2A	HP:0410263	Brain imaging abnormality	-	ORPHA:306
6326	SCN2A	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:306
6326	SCN2A	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:36387
6326	SCN2A	HP:0007359	Focal-onset seizure	HP:0040281	ORPHA:33069
6326	SCN2A	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:293181
6326	SCN2A	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:306
6326	SCN2A	HP:0007334	Bilateral tonic-clonic seizure with focal onset	-	OMIM:607745
6326	SCN2A	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/1	OMIM:613721
6326	SCN2A	HP:0002540	Inability to walk	HP:0040281	ORPHA:293181
6326	SCN2A	HP:0002539	Cortical dysplasia	HP:0040283	ORPHA:36387
6326	SCN2A	HP:0002521	Hypsarrhythmia	HP:0040281	ORPHA:697160
6326	SCN2A	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:293181
6326	SCN2A	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:1934
6326	SCN2A	HP:0002510	Spastic tetraplegia	-	OMIM:613721
6326	SCN2A	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0000070	Ureterocele	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0000054	Micropenis	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0025335	Delayed ability to stand	1/1	OMIM:618924
6326	SCN2A	HP:0001350	Slurred speech	HP:0040283	ORPHA:140927
6326	SCN2A	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1934
6326	SCN2A	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0001332	Dystonia	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0001332	Dystonia	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0001332	Dystonia	1/1	OMIM:618924
6326	SCN2A	HP:0001327	Photosensitive myoclonic seizure	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0001337	Tremor	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0001337	Tremor	HP:0040284	ORPHA:36387
6326	SCN2A	HP:0001337	Tremor	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:618924
6326	SCN2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:613721
6326	SCN2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:607745
6326	SCN2A	HP:0001336	Myoclonus	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0001336	Myoclonus	HP:0040281	ORPHA:697160
6326	SCN2A	HP:0001336	Myoclonus	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0001302	Pachygyria	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0002650	Scoliosis	HP:0040283	ORPHA:293181
6326	SCN2A	HP:0001300	Parkinsonism	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0012194	Episodic hemiplegia	HP:0040281	ORPHA:2131
6326	SCN2A	HP:0000175	Cleft palate	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0008947	Floppy infant	HP:0040283	ORPHA:33069
6326	SCN2A	HP:0008947	Floppy infant	HP:0040282	ORPHA:1934
6326	SCN2A	HP:0031284	Flushing	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0025401	Staring gaze	HP:0040283	ORPHA:140927
6326	SCN2A	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0004684	Talipes valgus	HP:0040284	ORPHA:36387
6326	SCN2A	HP:0002018	Nausea	HP:0040283	ORPHA:140927
6326	SCN2A	HP:0002019	Constipation	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0002033	Poor suck	HP:0040282	ORPHA:1934
6326	SCN2A	HP:0002014	Diarrhea	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0002015	Dysphagia	HP:0040282	ORPHA:1934
6326	SCN2A	HP:0002015	Dysphagia	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0002013	Vomiting	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0002013	Vomiting	1/1	OMIM:618924
6326	SCN2A	HP:0030915	Cerebellar edema	1/1	OMIM:618924
6326	SCN2A	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:293181
6326	SCN2A	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:36387
6326	SCN2A	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0002098	Respiratory distress	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:293181
6326	SCN2A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:140927
6326	SCN2A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:36387
6326	SCN2A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:306
6326	SCN2A	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:618924
6326	SCN2A	HP:0002069	Bilateral tonic-clonic seizure	13/13	OMIM:607745
6326	SCN2A	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:613721
6326	SCN2A	HP:0002067	Bradykinesia	HP:0040284	ORPHA:36387
6326	SCN2A	HP:0002067	Bradykinesia	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0002063	Rigidity	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0002063	Rigidity	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0002072	Chorea	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0002039	Anorexia	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:293181
6326	SCN2A	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:36387
6326	SCN2A	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:1934
6326	SCN2A	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:306
6326	SCN2A	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:36387
6326	SCN2A	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0002133	Status epilepticus	HP:0040284	ORPHA:306
6326	SCN2A	HP:0002133	Status epilepticus	1/1	OMIM:618924
6326	SCN2A	HP:0002133	Status epilepticus	HP:0040284	ORPHA:36387
6326	SCN2A	HP:0002133	Status epilepticus	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0002133	Status epilepticus	-	OMIM:613721
6326	SCN2A	HP:0002131	Episodic ataxia	1/1	OMIM:618924
6326	SCN2A	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:140927
6326	SCN2A	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0002104	Apnea	HP:0040282	ORPHA:306
6326	SCN2A	HP:0002104	Apnea	HP:0040283	ORPHA:140927
6326	SCN2A	HP:0002104	Apnea	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0002104	Apnea	-	OMIM:607745
6326	SCN2A	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:36387
6326	SCN2A	HP:0002172	Postural instability	HP:0040283	ORPHA:140927
6326	SCN2A	HP:0010532	Paroxysmal vertigo	2/4	OMIM:618924
6326	SCN2A	HP:0002266	Focal clonic seizure	HP:0040282	ORPHA:140927
6326	SCN2A	HP:0002266	Focal clonic seizure	HP:0040282	ORPHA:306
6326	SCN2A	HP:0002263	Exaggerated cupid's bow	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0003593	Infantile onset	-	OMIM:613721
6326	SCN2A	HP:0003593	Infantile onset	10/10	OMIM:607745
6326	SCN2A	HP:0002273	Tetraparesis	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0100702	Arachnoid cyst	1/1	OMIM:618924
6326	SCN2A	HP:0100710	Impulsivity	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0100710	Impulsivity	HP:0040283	ORPHA:33069
6326	SCN2A	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1934
6326	SCN2A	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0200134	Epileptic encephalopathy	1/1	OMIM:613721
6326	SCN2A	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:1934
6326	SCN2A	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:33069
6326	SCN2A	HP:0002283	Global brain atrophy	1/1	OMIM:613721
6326	SCN2A	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:33069
6326	SCN2A	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:36387
6326	SCN2A	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1934
6326	SCN2A	HP:0007058	Generalized cerebral atrophy/hypoplasia	HP:0040283	ORPHA:36387
6326	SCN2A	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:293181
6326	SCN2A	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:306
6326	SCN2A	HP:0002384	Focal impaired awareness seizure	HP:0040284	ORPHA:36387
6326	SCN2A	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0002384	Focal impaired awareness seizure	3/13	OMIM:607745
6326	SCN2A	HP:0002396	Cogwheel rigidity	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:1934
6326	SCN2A	HP:0002361	Psychomotor deterioration	-	ORPHA:306
6326	SCN2A	HP:0002376	Developmental regression	HP:0040281	ORPHA:293181
6326	SCN2A	HP:0002376	Developmental regression	HP:0040283	ORPHA:36387
6326	SCN2A	HP:0002376	Developmental regression	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0002376	Developmental regression	HP:0040281	ORPHA:697160
6326	SCN2A	HP:0002376	Developmental regression	HP:0040281	ORPHA:33069
6326	SCN2A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:36387
6326	SCN2A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0002372	Normal interictal EEG	6/9	OMIM:607745
6326	SCN2A	HP:0002372	Normal interictal EEG	HP:0040281	ORPHA:306
6326	SCN2A	HP:0002344	Progressive neurologic deterioration	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0002345	Action tremor	HP:0040283	ORPHA:33069
6326	SCN2A	HP:0002353	EEG abnormality	-	ORPHA:2131
6326	SCN2A	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1934
6326	SCN2A	HP:0002349	Focal aware seizure	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0002321	Vertigo	1/1	OMIM:618924
6326	SCN2A	HP:0002321	Vertigo	HP:0040283	ORPHA:140927
6326	SCN2A	HP:0002315	Headache	HP:0040283	ORPHA:140927
6326	SCN2A	HP:0002315	Headache	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0010841	Multifocal epileptiform discharges	HP:0040281	ORPHA:293181
6326	SCN2A	HP:0010841	Multifocal epileptiform discharges	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0007207	Photosensitive tonic-clonic seizure	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0010821	Focal emotional seizure with laughing	HP:0040282	ORPHA:293181
6326	SCN2A	HP:0010819	Atonic seizure	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0010819	Atonic seizure	HP:0040283	ORPHA:36387
6326	SCN2A	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:306
6326	SCN2A	HP:0010818	Generalized tonic seizure	HP:0040284	ORPHA:33069
6326	SCN2A	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0200048	Cyanotic episode	HP:0040283	ORPHA:33069
6326	SCN2A	HP:0007166	Paroxysmal dyskinesia	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0100694	Tibial torsion	HP:0040283	ORPHA:33069
6326	SCN2A	HP:0100694	Tibial torsion	HP:0040284	ORPHA:36387
6326	SCN2A	HP:0002311	Incoordination	HP:0040283	ORPHA:33069
6326	SCN2A	HP:0002311	Incoordination	HP:0040283	ORPHA:36387
6326	SCN2A	HP:0002307	Drooling	HP:0040283	ORPHA:33069
6326	SCN2A	HP:0031834	Aortopulmonary collateral arteries	HP:0040283	ORPHA:293181
6326	SCN2A	HP:0006813	Focal hemiclonic seizure	HP:0040282	ORPHA:293181
6326	SCN2A	HP:0006813	Focal hemiclonic seizure	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0000639	Nystagmus	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0000639	Nystagmus	1/1	OMIM:618924
6326	SCN2A	HP:0001944	Dehydration	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0011344	Severe global developmental delay	1/1	OMIM:613721
6326	SCN2A	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:293181
6326	SCN2A	HP:0003066	Limited knee extension	HP:0040283	ORPHA:33069
6326	SCN2A	HP:0003066	Limited knee extension	HP:0040284	ORPHA:36387
6326	SCN2A	HP:0031931	Ocular flutter	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0000739	Anxiety	HP:0040284	ORPHA:36387
6326	SCN2A	HP:0000739	Anxiety	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0000736	Short attention span	HP:0040283	ORPHA:33069
6326	SCN2A	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0000717	Autism	1/1	OMIM:613721
6326	SCN2A	HP:0000712	Emotional lability	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0000729	Autistic behavior	HP:0040284	ORPHA:36387
6326	SCN2A	HP:0000729	Autistic behavior	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:697160
6326	SCN2A	HP:0011499	Mydriasis	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0010174	Broad phalanx of the toes	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0011468	Facial tics	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0011463	Childhood onset	1/1	OMIM:613721
6326	SCN2A	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:293181
6326	SCN2A	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0012759	Neurodevelopmental abnormality	0/13	OMIM:607745
6326	SCN2A	HP:0012847	Epilepsia partialis continua	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0000826	Precocious puberty	HP:0040284	ORPHA:293181
6326	SCN2A	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0003270	Abdominal distention	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0045074	Thin eyebrow	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0045084	Limb myoclonus	HP:0040283	ORPHA:306
6326	SCN2A	HP:0000980	Pallor	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0000980	Pallor	HP:0040283	ORPHA:33069
6326	SCN2A	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0000961	Cyanosis	HP:0040283	ORPHA:306
6326	SCN2A	HP:0000961	Cyanosis	-	OMIM:607745
6326	SCN2A	HP:0008081	Pes valgus	HP:0040283	ORPHA:33069
6326	SCN2A	HP:0009381	Short finger	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0011675	Arrhythmia	HP:0040284	ORPHA:2131
6326	SCN2A	HP:0000297	Facial hypotonia	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0005135	Abnormal T-wave	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0032649	Skewfoot	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0000252	Microcephaly	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0000252	Microcephaly	HP:0040282	ORPHA:293181
6326	SCN2A	HP:0032678	Eyelid myoclonia seizure	HP:0040283	ORPHA:306
6326	SCN2A	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0001508	Failure to thrive	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0001508	Failure to thrive	HP:0040283	ORPHA:293181
6326	SCN2A	HP:0002835	Aspiration	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0001500	Broad finger	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0032807	Neonatal seizure	HP:0040282	ORPHA:140927
6326	SCN2A	HP:0032807	Neonatal seizure	HP:0040281	ORPHA:306
6326	SCN2A	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:293181
6326	SCN2A	HP:0032823	Neonatal electro-clinical seizure with behavior arrest	HP:0040283	ORPHA:306
6326	SCN2A	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040281	ORPHA:2131
6326	SCN2A	HP:0000340	Sloping forehead	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0032792	Tonic seizure	1/1	OMIM:618924
6326	SCN2A	HP:0032792	Tonic seizure	HP:0040282	ORPHA:140927
6326	SCN2A	HP:0000348	High forehead	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0032794	Myoclonic seizure	HP:0040282	ORPHA:293181
6326	SCN2A	HP:0031475	Status epilepticus without prominent motor symptoms	HP:0040283	ORPHA:33069
6326	SCN2A	HP:0031491	Continuous spike and waves during slow sleep	HP:0040284	ORPHA:140927
6326	SCN2A	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:2131
6326	SCN2A	HP:0011193	EEG with focal spikes	HP:0040282	ORPHA:140927
6326	SCN2A	HP:0011198	EEG with generalized epileptiform discharges	HP:0040283	ORPHA:33069
6326	SCN2A	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0011185	EEG with focal epileptiform discharges	HP:0040283	ORPHA:33069
6326	SCN2A	HP:0011182	Interictal epileptiform activity	HP:0040284	ORPHA:306
6326	SCN2A	HP:0011182	Interictal epileptiform activity	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0011169	Generalized clonic seizure	HP:0040282	ORPHA:306
6326	SCN2A	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0011169	Generalized clonic seizure	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0011172	Complex febrile seizure	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0011171	Simple febrile seizure	HP:0040284	ORPHA:306
6326	SCN2A	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:306
6326	SCN2A	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:1934
6326	SCN2A	HP:0011151	Atypical absence status epilepticus	HP:0040283	ORPHA:36387
6326	SCN2A	HP:0011153	Focal motor seizure	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0011153	Focal motor seizure	HP:0040282	ORPHA:306
6326	SCN2A	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:1934
6326	SCN2A	HP:0032906	Focal head nodding automatism seizure	HP:0040283	ORPHA:306
6326	SCN2A	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0000486	Strabismus	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:2131
6326	SCN2A	HP:0012469	Infantile spasms	HP:0040281	ORPHA:697160
6326	SCN2A	HP:0012469	Infantile spasms	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0012448	Delayed myelination	HP:0040283	ORPHA:293181
6326	SCN2A	HP:0012448	Delayed myelination	HP:0040283	ORPHA:1934
6326	SCN2A	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:697160
6326	SCN2A	HP:0000466	Limited neck range of motion	HP:0040282	ORPHA:33069
6326	SCN2A	HP:0001763	Pes planus	HP:0040284	ORPHA:36387
6326	SCN2A	HP:0001763	Pes planus	HP:0040283	ORPHA:33069
6326	SCN2A	HP:0000505	Visual impairment	HP:0040283	ORPHA:293181
6326	SCN2A	HP:0000577	Exotropia	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0012554	Absent thumbnail	HP:0040284	ORPHA:1934
6326	SCN2A	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:2131
6326	SCN2A	HP:0000565	Esotropia	HP:0040282	ORPHA:2131
6327	SCN2B	HP:0001279	Syncope	HP:0040282	ORPHA:334
6327	SCN2B	HP:0001279	Syncope	HP:0040282	ORPHA:130
6327	SCN2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:615378
6327	SCN2B	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
6327	SCN2B	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
6327	SCN2B	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
6327	SCN2B	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
6327	SCN2B	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
6327	SCN2B	HP:0004757	Paroxysmal atrial fibrillation	2/2	OMIM:615378
6327	SCN2B	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
6327	SCN2B	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
6327	SCN2B	HP:0003596	Middle age onset	2/2	OMIM:615378
6327	SCN2B	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
6327	SCN2B	HP:0100749	Chest pain	HP:0040282	ORPHA:334
6327	SCN2B	HP:0002321	Vertigo	HP:0040282	ORPHA:334
6327	SCN2B	HP:0001962	Palpitations	HP:0040282	ORPHA:334
6327	SCN2B	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
6327	SCN2B	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
6327	SCN2B	HP:0000822	Hypertension	1/2	OMIM:615378
6327	SCN2B	HP:0012248	Prolonged PR interval	1/2	OMIM:615378
6327	SCN2B	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
6327	SCN2B	HP:0012251	ST segment elevation	2/2	OMIM:615378
6327	SCN2B	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
6327	SCN2B	HP:0012378	Fatigue	HP:0040282	ORPHA:334
6327	SCN2B	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
6327	SCN2B	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
6327	SCN2B	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
6327	SCN2B	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
6327	SCN2B	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
6328	SCN3A	HP:0020221	Clonic seizure	1/4	OMIM:617935
6328	SCN3A	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
6328	SCN3A	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
6328	SCN3A	HP:0001290	Generalized hypotonia	2/6	OMIM:617938
6328	SCN3A	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0001250	Seizure	HP:0040282	ORPHA:442835
6328	SCN3A	HP:0001250	Seizure	6/6	OMIM:617938
6328	SCN3A	HP:0001252	Hypotonia	1/1	OMIM:617935
6328	SCN3A	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
6328	SCN3A	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
6328	SCN3A	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
6328	SCN3A	HP:0001263	Global developmental delay	1/5	OMIM:617935
6328	SCN3A	HP:0001263	Global developmental delay	6/6	OMIM:617938
6328	SCN3A	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0007359	Focal-onset seizure	1/1	OMIM:617935
6328	SCN3A	HP:0002540	Inability to walk	2/6	OMIM:617938
6328	SCN3A	HP:0002521	Hypsarrhythmia	1/6	OMIM:617938
6328	SCN3A	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0002510	Spastic tetraplegia	1/6	OMIM:617938
6328	SCN3A	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
6328	SCN3A	HP:0002500	Abnormal cerebral white matter morphology	2/6	OMIM:617938
6328	SCN3A	HP:0001344	Absent speech	-	OMIM:617938
6328	SCN3A	HP:0001337	Tremor	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0000006	Autosomal dominant inheritance	-	OMIM:617935
6328	SCN3A	HP:0000006	Autosomal dominant inheritance	-	OMIM:617938
6328	SCN3A	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0002015	Dysphagia	1/6	OMIM:617938
6328	SCN3A	HP:0002069	Bilateral tonic-clonic seizure	1/4	OMIM:617935
6328	SCN3A	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0002079	Hypoplasia of the corpus callosum	2/6	OMIM:617938
6328	SCN3A	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
6328	SCN3A	HP:0002126	Polymicrogyria	2/6	OMIM:617938
6328	SCN3A	HP:0003593	Infantile onset	2/6	OMIM:617938
6328	SCN3A	HP:0100704	Cerebral visual impairment	1/6	OMIM:617938
6328	SCN3A	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0200134	Epileptic encephalopathy	-	OMIM:617938
6328	SCN3A	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0007018	Attention deficit hyperactivity disorder	1/4	OMIM:617935
6328	SCN3A	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0002384	Focal impaired awareness seizure	2/4	OMIM:617935
6328	SCN3A	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
6328	SCN3A	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
6328	SCN3A	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0003623	Neonatal onset	2/5	OMIM:617935
6328	SCN3A	HP:0003623	Neonatal onset	3/6	OMIM:617938
6328	SCN3A	HP:0006889	Intellectual disability, borderline	1/4	OMIM:617935
6328	SCN3A	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
6328	SCN3A	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0004322	Short stature	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
6328	SCN3A	HP:0000750	Delayed speech and language development	1/4	OMIM:617935
6328	SCN3A	HP:0000717	Autism	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0011471	Gastrostomy tube feeding in infancy	1/6	OMIM:617938
6328	SCN3A	HP:0011463	Childhood onset	3/4	OMIM:617935
6328	SCN3A	HP:0011463	Childhood onset	1/6	OMIM:617938
6328	SCN3A	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
6328	SCN3A	HP:0000274	Small face	1/1	OMIM:617935
6328	SCN3A	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0000252	Microcephaly	1/5	OMIM:617935
6328	SCN3A	HP:0000252	Microcephaly	1/6	OMIM:617938
6328	SCN3A	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
6328	SCN3A	HP:0001508	Failure to thrive	1/6	OMIM:617938
6328	SCN3A	HP:0012332	Abnormal autonomic nervous system physiology	1/1	OMIM:617935
6328	SCN3A	HP:0000348	High forehead	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0011171	Simple febrile seizure	1/4	OMIM:617935
6328	SCN3A	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
6328	SCN3A	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
6328	SCN3A	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
6328	SCN3A	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
6329	SCN4A	HP:0002486	Myotonia	0/1	OMIM:170400
6329	SCN4A	HP:0002486	Myotonia	HP:0040282	OMIM:170500
6329	SCN4A	HP:0002486	Myotonia	2/2	OMIM:608390
6329	SCN4A	HP:0002486	Myotonia	HP:0040281	ORPHA:99735
6329	SCN4A	HP:0002486	Myotonia	HP:0040281	ORPHA:99736
6329	SCN4A	HP:0002486	Myotonia	HP:0040282	ORPHA:684
6329	SCN4A	HP:0002486	Myotonia	HP:0040282	ORPHA:682
6329	SCN4A	HP:0002486	Myotonia	-	ORPHA:681
6329	SCN4A	HP:0002486	Myotonia	0/1	OMIM:613345
6329	SCN4A	HP:0002491	Spasticity of facial muscles	HP:0040282	ORPHA:99734
6329	SCN4A	HP:0002474	Expressive language delay	1/10	OMIM:620369
6329	SCN4A	HP:0002474	Expressive language delay	2/5	OMIM:620351
6329	SCN4A	HP:0003768	Periodic paralysis	1/1	OMIM:613345
6329	SCN4A	HP:0003768	Periodic paralysis	2/2	OMIM:614198
6329	SCN4A	HP:0003768	Periodic paralysis	1/1	OMIM:170400
6329	SCN4A	HP:0007215	Periodic hyperkalemic paralysis	HP:0040281	ORPHA:682
6329	SCN4A	HP:0007215	Periodic hyperkalemic paralysis	-	OMIM:170500
6329	SCN4A	HP:0003752	Episodic flaccid weakness	2/2	OMIM:613345
6329	SCN4A	HP:0003752	Episodic flaccid weakness	HP:0040281	ORPHA:682
6329	SCN4A	HP:0003752	Episodic flaccid weakness	HP:0040281	ORPHA:681
6329	SCN4A	HP:0003752	Episodic flaccid weakness	1/1	OMIM:170400
6329	SCN4A	HP:0003752	Episodic flaccid weakness	-	OMIM:170500
6329	SCN4A	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0003740	Myotonia with warm-up phenomenon	HP:0040284	ORPHA:99734
6329	SCN4A	HP:0003701	Proximal muscle weakness	HP:0040284	ORPHA:99734
6329	SCN4A	HP:0003700	Generalized amyotrophy	5/5	OMIM:620351
6329	SCN4A	HP:0003700	Generalized amyotrophy	4/10	OMIM:620369
6329	SCN4A	HP:0003720	Generalized muscle hypertrophy	HP:0040283	ORPHA:99735
6329	SCN4A	HP:0003712	Skeletal muscle hypertrophy	HP:0040283	ORPHA:99735
6329	SCN4A	HP:0003712	Skeletal muscle hypertrophy	HP:0040283	ORPHA:99736
6329	SCN4A	HP:0003712	Skeletal muscle hypertrophy	-	OMIM:168300
6329	SCN4A	HP:0003712	Skeletal muscle hypertrophy	-	OMIM:608390
6329	SCN4A	HP:0003712	Skeletal muscle hypertrophy	HP:0040283	ORPHA:682
6329	SCN4A	HP:0001290	Generalized hypotonia	1/5	OMIM:620351
6329	SCN4A	HP:0001276	Hypertonia	HP:0040281	ORPHA:99735
6329	SCN4A	HP:0001276	Hypertonia	HP:0040281	ORPHA:99736
6329	SCN4A	HP:0001276	Hypertonia	HP:0040283	ORPHA:682
6329	SCN4A	HP:0001270	Motor delay	1/1	OMIM:614198
6329	SCN4A	HP:0001270	Motor delay	4/5	OMIM:620351
6329	SCN4A	HP:0001270	Motor delay	4/10	OMIM:620369
6329	SCN4A	HP:0001288	Gait disturbance	1/1	OMIM:614198
6329	SCN4A	HP:0001288	Gait disturbance	HP:0040282	ORPHA:682
6329	SCN4A	HP:0001288	Gait disturbance	HP:0040283	ORPHA:99735
6329	SCN4A	HP:0001288	Gait disturbance	HP:0040283	ORPHA:99736
6329	SCN4A	HP:0001288	Gait disturbance	HP:0040284	ORPHA:99734
6329	SCN4A	HP:0001252	Hypotonia	1/1	OMIM:170400
6329	SCN4A	HP:0001252	Hypotonia	2/2	OMIM:620351
6329	SCN4A	HP:0001252	Hypotonia	5/10	OMIM:620369
6329	SCN4A	HP:0001249	Intellectual disability	HP:0040283	ORPHA:99735
6329	SCN4A	HP:0002515	Waddling gait	4/7	OMIM:620351
6329	SCN4A	HP:0002515	Waddling gait	2/10	OMIM:620369
6329	SCN4A	HP:0003829	Typified by incomplete penetrance	-	OMIM:170400
6329	SCN4A	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0003811	Neonatal death	1/5	OMIM:620351
6329	SCN4A	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:99735
6329	SCN4A	HP:0001371	Flexion contracture	HP:0040283	ORPHA:682
6329	SCN4A	HP:0001371	Flexion contracture	1/10	OMIM:620369
6329	SCN4A	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:682
6329	SCN4A	HP:0410011	Abnormality of masticatory muscle	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0001324	Muscle weakness	-	OMIM:170400
6329	SCN4A	HP:0001324	Muscle weakness	-	OMIM:168300
6329	SCN4A	HP:0001324	Muscle weakness	0/2	OMIM:608390
6329	SCN4A	HP:0001324	Muscle weakness	HP:0040283	ORPHA:99735
6329	SCN4A	HP:0001324	Muscle weakness	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0000007	Autosomal recessive inheritance	-	OMIM:620351
6329	SCN4A	HP:0000007	Autosomal recessive inheritance	-	OMIM:620369
6329	SCN4A	HP:0000007	Autosomal recessive inheritance	-	OMIM:614198
6329	SCN4A	HP:0000006	Autosomal dominant inheritance	-	OMIM:170500
6329	SCN4A	HP:0000006	Autosomal dominant inheritance	-	OMIM:170400
6329	SCN4A	HP:0000006	Autosomal dominant inheritance	-	OMIM:613345
6329	SCN4A	HP:0000006	Autosomal dominant inheritance	-	OMIM:168300
6329	SCN4A	HP:0000006	Autosomal dominant inheritance	-	OMIM:608390
6329	SCN4A	HP:0002650	Scoliosis	HP:0040283	ORPHA:98913
6329	SCN4A	HP:0002650	Scoliosis	4/8	OMIM:620351
6329	SCN4A	HP:0002650	Scoliosis	1/10	OMIM:620369
6329	SCN4A	HP:0001319	Neonatal hypotonia	HP:0040284	ORPHA:99734
6329	SCN4A	HP:0001319	Neonatal hypotonia	HP:0040283	OMIM:168300
6329	SCN4A	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:684
6329	SCN4A	HP:0001319	Neonatal hypotonia	4/5	OMIM:620351
6329	SCN4A	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:682
6329	SCN4A	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:681
6329	SCN4A	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0031108	Triceps weakness	HP:0040283	ORPHA:98913
6329	SCN4A	HP:6000833	Hyperkalemia while symptomatic	-	OMIM:170500
6329	SCN4A	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:682
6329	SCN4A	HP:0000194	Open mouth	1/1	OMIM:620351
6329	SCN4A	HP:0001488	Bilateral ptosis	1/1	OMIM:614198
6329	SCN4A	HP:0001488	Bilateral ptosis	1/1	OMIM:620351
6329	SCN4A	HP:0025425	Laryngospasm	-	OMIM:608390
6329	SCN4A	HP:0025425	Laryngospasm	HP:0040284	ORPHA:99734
6329	SCN4A	HP:0008994	Proximal muscle weakness in lower limbs	2/2	OMIM:620351
6329	SCN4A	HP:0008967	Exercise-induced muscle stiffness	HP:0040282	ORPHA:99734
6329	SCN4A	HP:0001446	Abnormality of the musculature of the upper limbs	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:98913
6329	SCN4A	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:681
6329	SCN4A	HP:0003327	Axial muscle weakness	3/10	OMIM:620369
6329	SCN4A	HP:0003327	Axial muscle weakness	5/5	OMIM:620351
6329	SCN4A	HP:0003326	Myalgia	HP:0040283	ORPHA:99735
6329	SCN4A	HP:0003326	Myalgia	HP:0040281	ORPHA:99736
6329	SCN4A	HP:0003326	Myalgia	HP:0040283	ORPHA:99734
6329	SCN4A	HP:0003326	Myalgia	-	OMIM:168300
6329	SCN4A	HP:0003326	Myalgia	HP:0040282	ORPHA:684
6329	SCN4A	HP:0003326	Myalgia	HP:0040282	ORPHA:682
6329	SCN4A	HP:0003326	Myalgia	-	OMIM:608390
6329	SCN4A	HP:0002015	Dysphagia	HP:0040282	ORPHA:684
6329	SCN4A	HP:0002015	Dysphagia	HP:0040283	ORPHA:99735
6329	SCN4A	HP:0002015	Dysphagia	HP:0040283	ORPHA:99736
6329	SCN4A	HP:0002007	Frontal bossing	1/5	OMIM:620351
6329	SCN4A	HP:0002007	Frontal bossing	3/10	OMIM:620369
6329	SCN4A	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:99735
6329	SCN4A	HP:0003307	Hyperlordosis	1/1	OMIM:614198
6329	SCN4A	HP:0003306	Spinal rigidity	1/5	OMIM:620351
6329	SCN4A	HP:0003306	Spinal rigidity	1/10	OMIM:620369
6329	SCN4A	HP:0003324	Generalized muscle weakness	1/1	OMIM:620351
6329	SCN4A	HP:0005949	Apneic episodes in infancy	-	OMIM:608390
6329	SCN4A	HP:0011809	Paradoxical myotonia	HP:0040282	ORPHA:684
6329	SCN4A	HP:0011809	Paradoxical myotonia	-	OMIM:168300
6329	SCN4A	HP:0002089	Pulmonary hypoplasia	5/10	OMIM:620369
6329	SCN4A	HP:0002098	Respiratory distress	1/10	OMIM:620369
6329	SCN4A	HP:0002099	Asthma	HP:0040283	ORPHA:99735
6329	SCN4A	HP:0002094	Dyspnea	HP:0040283	ORPHA:99735
6329	SCN4A	HP:0002094	Dyspnea	1/1	OMIM:613345
6329	SCN4A	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:682
6329	SCN4A	HP:0002093	Respiratory insufficiency	1/1	OMIM:620351
6329	SCN4A	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:98913
6329	SCN4A	HP:0003394	Muscle spasm	HP:0040283	ORPHA:681
6329	SCN4A	HP:0003394	Muscle spasm	HP:0040281	ORPHA:99735
6329	SCN4A	HP:0003394	Muscle spasm	HP:0040282	ORPHA:99736
6329	SCN4A	HP:0003391	Gowers sign	2/5	OMIM:620351
6329	SCN4A	HP:0003391	Gowers sign	2/10	OMIM:620369
6329	SCN4A	HP:0002047	Malignant hyperthermia	HP:0040283	ORPHA:682
6329	SCN4A	HP:0003388	Easy fatigability	1/1	OMIM:614198
6329	SCN4A	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0008180	Mildly elevated creatine kinase	2/2	OMIM:620351
6329	SCN4A	HP:0008180	Mildly elevated creatine kinase	HP:0040281	ORPHA:681
6329	SCN4A	HP:0008153	Periodic hypokalemic paresis	HP:0040283	ORPHA:684
6329	SCN4A	HP:0008153	Periodic hypokalemic paresis	HP:0040280	ORPHA:681
6329	SCN4A	HP:0003473	Fatigable weakness	1/1	OMIM:614198
6329	SCN4A	HP:0003470	Paralysis	HP:0040281	ORPHA:681
6329	SCN4A	HP:0002153	Hyperkalemia	-	OMIM:170500
6329	SCN4A	HP:0002153	Hyperkalemia	HP:0040282	ORPHA:682
6329	SCN4A	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0003457	EMG abnormality	HP:0040282	ORPHA:99735
6329	SCN4A	HP:0003457	EMG abnormality	HP:0040282	ORPHA:99736
6329	SCN4A	HP:0003457	EMG abnormality	HP:0040281	ORPHA:682
6329	SCN4A	HP:0003457	EMG abnormality	HP:0040281	ORPHA:681
6329	SCN4A	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:684
6329	SCN4A	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0003443	Decreased size of nerve terminals	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0002104	Apnea	HP:0040284	ORPHA:99734
6329	SCN4A	HP:0002104	Apnea	1/1	OMIM:614198
6329	SCN4A	HP:0003402	Decreased miniature endplate potentials	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1/1	OMIM:614198
6329	SCN4A	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:620351
6329	SCN4A	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:98913
6329	SCN4A	HP:0008256	Adrenocortical adenoma	HP:0040284	ORPHA:681
6329	SCN4A	HP:0010548	Percussion myotonia	HP:0040282	ORPHA:684
6329	SCN4A	HP:0010548	Percussion myotonia	-	OMIM:168300
6329	SCN4A	HP:0010548	Percussion myotonia	2/2	OMIM:608390
6329	SCN4A	HP:0003401	Paresthesia	HP:0040283	ORPHA:682
6329	SCN4A	HP:0003593	Infantile onset	1/1	OMIM:614198
6329	SCN4A	HP:0003593	Infantile onset	-	OMIM:170500
6329	SCN4A	HP:0003593	Infantile onset	1/1	OMIM:170400
6329	SCN4A	HP:0003593	Infantile onset	-	OMIM:168300
6329	SCN4A	HP:0003577	Congenital onset	5/7	OMIM:620351
6329	SCN4A	HP:0003577	Congenital onset	1/10	OMIM:620369
6329	SCN4A	HP:0002240	Hepatomegaly	1/10	OMIM:620369
6329	SCN4A	HP:0003552	Muscle stiffness	HP:0040281	ORPHA:99734
6329	SCN4A	HP:0003552	Muscle stiffness	-	OMIM:168300
6329	SCN4A	HP:0003552	Muscle stiffness	-	OMIM:608390
6329	SCN4A	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:684
6329	SCN4A	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:620351
6329	SCN4A	HP:0002202	Pleural effusion	2/10	OMIM:620369
6329	SCN4A	HP:0004875	Neonatal inspiratory stridor	HP:0040282	ORPHA:684
6329	SCN4A	HP:0002203	Respiratory paralysis	HP:0040284	ORPHA:681
6329	SCN4A	HP:0100749	Chest pain	HP:0040283	ORPHA:682
6329	SCN4A	HP:0100749	Chest pain	HP:0040283	ORPHA:99735
6329	SCN4A	HP:0100749	Chest pain	HP:0040282	ORPHA:99736
6329	SCN4A	HP:0034671	Knee contracture	1/5	OMIM:620351
6329	SCN4A	HP:0011998	Postprandial hyperglycemia	HP:0040282	ORPHA:681
6329	SCN4A	HP:0011968	Feeding difficulties	-	OMIM:168300
6329	SCN4A	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:684
6329	SCN4A	HP:0010628	Facial palsy	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0020045	Esodeviation	1/1	OMIM:620351
6329	SCN4A	HP:0002380	Fasciculations	HP:0040282	ORPHA:682
6329	SCN4A	HP:0003694	Late-onset proximal muscle weakness	HP:0040283	ORPHA:681
6329	SCN4A	HP:0003691	Scapular winging	2/7	OMIM:620351
6329	SCN4A	HP:0003691	Scapular winging	2/10	OMIM:620369
6329	SCN4A	HP:0003690	Limb muscle weakness	5/5	OMIM:620351
6329	SCN4A	HP:0003690	Limb muscle weakness	4/10	OMIM:620369
6329	SCN4A	HP:0002359	Frequent falls	1/5	OMIM:620351
6329	SCN4A	HP:0002359	Frequent falls	1/10	OMIM:620369
6329	SCN4A	HP:0002343	Normal pressure hydrocephalus	1/1	OMIM:620351
6329	SCN4A	HP:0003687	Centrally nucleated skeletal muscle fibers	1/1	OMIM:620351
6329	SCN4A	HP:0002352	Leukoencephalopathy	1/10	OMIM:620369
6329	SCN4A	HP:0002329	Drowsiness	HP:0040283	ORPHA:98913
6329	SCN4A	HP:0010804	Tented upper lip vermilion	1/10	OMIM:620369
6329	SCN4A	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:682
6329	SCN4A	HP:0033454	Tube feeding	1/10	OMIM:620369
6329	SCN4A	HP:0003623	Neonatal onset	1/2	OMIM:608390
6329	SCN4A	HP:0003621	Juvenile onset	1/1	OMIM:614198
6329	SCN4A	HP:0003621	Juvenile onset	1/1	OMIM:613345
6329	SCN4A	HP:0009077	Weakness of long finger extensor muscles	HP:0040283	ORPHA:98913
6329	SCN4A	HP:0000651	Diplopia	HP:0040283	ORPHA:99734
6329	SCN4A	HP:0000651	Diplopia	HP:0040283	ORPHA:98913
6329	SCN4A	HP:0000622	Blurred vision	HP:0040283	ORPHA:99734
6329	SCN4A	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:99735
6329	SCN4A	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:99736
6329	SCN4A	HP:0000602	Ophthalmoplegia	2/5	OMIM:620351
6329	SCN4A	HP:0000602	Ophthalmoplegia	2/10	OMIM:620369
6329	SCN4A	HP:0009020	Exercise-induced muscle fatigue	HP:0040282	ORPHA:681
6329	SCN4A	HP:0000678	Dental crowding	1/5	OMIM:620351
6329	SCN4A	HP:0000678	Dental crowding	1/10	OMIM:620369
6329	SCN4A	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0009004	Hypoplasia of the musculature	6/10	OMIM:620369
6329	SCN4A	HP:0011309	Tapered toe	1/10	OMIM:620369
6329	SCN4A	HP:0000664	Synophrys	1/5	OMIM:620351
6329	SCN4A	HP:0000664	Synophrys	1/10	OMIM:620369
6329	SCN4A	HP:0004322	Short stature	HP:0040283	ORPHA:99735
6329	SCN4A	HP:0005659	Thoracic kyphoscoliosis	HP:0040283	ORPHA:98913
6329	SCN4A	HP:0004303	Abnormal muscle fiber morphology	HP:0040281	ORPHA:681
6329	SCN4A	HP:0030674	Antenatal onset	4/10	OMIM:620369
6329	SCN4A	HP:0003044	Shoulder flexion contracture	1/10	OMIM:620369
6329	SCN4A	HP:0034197	Third trimester onset	3/6	OMIM:620351
6329	SCN4A	HP:0034198	Second trimester onset	5/10	OMIM:620369
6329	SCN4A	HP:0000771	Gynecomastia	2/2	OMIM:620351
6329	SCN4A	HP:0100021	Cerebral palsy	HP:0040281	ORPHA:682
6329	SCN4A	HP:0000767	Pectus excavatum	4/7	OMIM:620351
6329	SCN4A	HP:0000767	Pectus excavatum	2/10	OMIM:620369
6329	SCN4A	HP:0012726	Episodic hypokalemia	HP:0040280	ORPHA:681
6329	SCN4A	HP:0011462	Young adult onset	1/2	OMIM:608390
6329	SCN4A	HP:0012764	Orthopnea	HP:0040283	ORPHA:98913
6329	SCN4A	HP:0003121	Limb joint contracture	3/10	OMIM:620369
6329	SCN4A	HP:0003100	Slender long bone	1/10	OMIM:620369
6329	SCN4A	HP:0030799	Scaphocephaly	2/2	OMIM:620351
6329	SCN4A	HP:0012903	Myotonia of the upper limb	HP:0040282	ORPHA:684
6329	SCN4A	HP:0012903	Myotonia of the upper limb	HP:0040282	ORPHA:99734
6329	SCN4A	HP:0003198	Myopathy	HP:0040283	OMIM:170400
6329	SCN4A	HP:0003198	Myopathy	HP:0040283	ORPHA:682
6329	SCN4A	HP:0012904	Cold-sensitive myotonia	HP:0040282	ORPHA:684
6329	SCN4A	HP:0012904	Cold-sensitive myotonia	-	ORPHA:99734
6329	SCN4A	HP:0003196	Short nose	2/10	OMIM:620369
6329	SCN4A	HP:0012900	Myotonia of the face	HP:0040282	ORPHA:684
6329	SCN4A	HP:0012900	Myotonia of the face	HP:0040283	ORPHA:99734
6329	SCN4A	HP:0012901	Myotonia of the jaw	HP:0040282	ORPHA:684
6329	SCN4A	HP:0012902	Myotonia of the lower limb	HP:0040282	ORPHA:99734
6329	SCN4A	HP:0000883	Thin ribs	1/10	OMIM:620369
6329	SCN4A	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:99736
6329	SCN4A	HP:0012899	Handgrip myotonia	HP:0040282	ORPHA:684
6329	SCN4A	HP:0012899	Handgrip myotonia	-	OMIM:168300
6329	SCN4A	HP:0012899	Handgrip myotonia	1/2	OMIM:608390
6329	SCN4A	HP:0012899	Handgrip myotonia	HP:0040283	ORPHA:99734
6329	SCN4A	HP:0012892	Facial muscle hypertrophy	HP:0040282	ORPHA:684
6329	SCN4A	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:682
6329	SCN4A	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	OMIM:608390
6329	SCN4A	HP:0005879	Congenital finger flexion contractures	1/5	OMIM:620351
6329	SCN4A	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:682
6329	SCN4A	HP:0003202	Skeletal muscle atrophy	1/2	OMIM:608390
6329	SCN4A	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0003200	Ragged-red muscle fibers	0/1	OMIM:620351
6329	SCN4A	HP:0003273	Hip contracture	2/5	OMIM:620351
6329	SCN4A	HP:0003273	Hip contracture	3/10	OMIM:620369
6329	SCN4A	HP:0030842	Choking episodes	HP:0040284	ORPHA:99734
6329	SCN4A	HP:0010307	Stridor	-	OMIM:608390
6329	SCN4A	HP:0010307	Stridor	HP:0040284	ORPHA:99734
6329	SCN4A	HP:0100284	EMG: myotonic discharges	HP:0040281	ORPHA:99734
6329	SCN4A	HP:0000961	Cyanosis	HP:0040283	ORPHA:98913
6329	SCN4A	HP:0000939	Osteoporosis	1/1	OMIM:620351
6329	SCN4A	HP:0008081	Pes valgus	1/5	OMIM:620351
6329	SCN4A	HP:0008081	Pes valgus	1/10	OMIM:620369
6329	SCN4A	HP:0011675	Arrhythmia	HP:0040283	ORPHA:682
6329	SCN4A	HP:0011675	Arrhythmia	HP:0040283	ORPHA:681
6329	SCN4A	HP:0000286	Epicanthus	HP:0040283	ORPHA:99735
6329	SCN4A	HP:0000278	Retrognathia	1/10	OMIM:620369
6329	SCN4A	HP:0000276	Long face	2/5	OMIM:620351
6329	SCN4A	HP:0000276	Long face	1/10	OMIM:620369
6329	SCN4A	HP:0012240	Increased intramyocellular lipid droplets	HP:0040281	ORPHA:681
6329	SCN4A	HP:0002808	Kyphosis	1/5	OMIM:620351
6329	SCN4A	HP:0002878	Respiratory failure	HP:0040283	ORPHA:98913
6329	SCN4A	HP:0000218	High palate	1/1	OMIM:614198
6329	SCN4A	HP:0000218	High palate	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0000218	High palate	6/7	OMIM:620351
6329	SCN4A	HP:0000218	High palate	4/10	OMIM:620369
6329	SCN4A	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:98913
6329	SCN4A	HP:0001561	Polyhydramnios	3/5	OMIM:620351
6329	SCN4A	HP:0001561	Polyhydramnios	7/10	OMIM:620369
6329	SCN4A	HP:0001558	Decreased fetal movement	4/6	OMIM:620351
6329	SCN4A	HP:0001558	Decreased fetal movement	7/10	OMIM:620369
6329	SCN4A	HP:0031352	Chest tightness	1/1	OMIM:613345
6329	SCN4A	HP:0001522	Death in infancy	HP:0040283	ORPHA:682
6329	SCN4A	HP:0001541	Ascites	1/10	OMIM:620369
6329	SCN4A	HP:0000207	Triangular mouth	1/10	OMIM:620369
6329	SCN4A	HP:0031372	Cold paresis	HP:0040282	ORPHA:684
6329	SCN4A	HP:0031374	Ankle weakness	HP:0040283	ORPHA:98913
6329	SCN4A	HP:0012378	Fatigue	HP:0040283	ORPHA:99734
6329	SCN4A	HP:0012378	Fatigue	1/1	OMIM:620351
6329	SCN4A	HP:0011042	Abnormal circulating potassium concentration	HP:0040283	ORPHA:684
6329	SCN4A	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	1/2	OMIM:614198
6329	SCN4A	HP:0005257	Thoracic hypoplasia	1/10	OMIM:620369
6329	SCN4A	HP:0001608	Abnormality of the voice	HP:0040283	ORPHA:99735
6329	SCN4A	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040284	ORPHA:681
6329	SCN4A	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040283	ORPHA:98913
6329	SCN4A	HP:0002943	Thoracic scoliosis	1/5	OMIM:620351
6329	SCN4A	HP:0002943	Thoracic scoliosis	1/10	OMIM:620369
6329	SCN4A	HP:0001612	Weak cry	2/5	OMIM:620351
6329	SCN4A	HP:0001612	Weak cry	1/10	OMIM:620369
6329	SCN4A	HP:0001611	Hypernasal speech	1/5	OMIM:620351
6329	SCN4A	HP:0030199	Fatigable weakness of neck muscles	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0005180	Tricuspid regurgitation	1/5	OMIM:620351
6329	SCN4A	HP:0002902	Hyponatremia	HP:0040283	ORPHA:682
6329	SCN4A	HP:0002900	Hypokalemia	1/1	OMIM:170400
6329	SCN4A	HP:0002900	Hypokalemia	2/2	OMIM:613345
6329	SCN4A	HP:0002900	Hypokalemia	HP:0040283	ORPHA:682
6329	SCN4A	HP:0000369	Low-set ears	2/10	OMIM:620369
6329	SCN4A	HP:0000347	Micrognathia	1/5	OMIM:620351
6329	SCN4A	HP:0000347	Micrognathia	3/10	OMIM:620369
6329	SCN4A	HP:0001662	Bradycardia	1/1	OMIM:620351
6329	SCN4A	HP:0002987	Elbow flexion contracture	1/10	OMIM:620369
6329	SCN4A	HP:0000322	Short philtrum	1/10	OMIM:620369
6329	SCN4A	HP:0001623	Breech presentation	4/6	OMIM:620351
6329	SCN4A	HP:0001623	Breech presentation	3/10	OMIM:620369
6329	SCN4A	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:682
6329	SCN4A	HP:0030319	Weakness of facial musculature	6/7	OMIM:620351
6329	SCN4A	HP:0030319	Weakness of facial musculature	4/10	OMIM:620369
6329	SCN4A	HP:0006670	Impaired myocardial contractility	-	ORPHA:681
6329	SCN4A	HP:0005348	Inspiratory stridor	-	OMIM:168300
6329	SCN4A	HP:0000486	Strabismus	HP:0040284	ORPHA:99734
6329	SCN4A	HP:0000494	Downslanted palpebral fissures	1/5	OMIM:620351
6329	SCN4A	HP:0000494	Downslanted palpebral fissures	1/10	OMIM:620369
6329	SCN4A	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0000490	Deeply set eye	1/5	OMIM:620351
6329	SCN4A	HP:0000490	Deeply set eye	2/10	OMIM:620369
6329	SCN4A	HP:0001790	Nonimmune hydrops fetalis	4/10	OMIM:620369
6329	SCN4A	HP:0000470	Short neck	1/10	OMIM:620369
6329	SCN4A	HP:0001771	Achilles tendon contracture	1/5	OMIM:620351
6329	SCN4A	HP:0001771	Achilles tendon contracture	1/10	OMIM:620369
6329	SCN4A	HP:0000431	Wide nasal bridge	1/5	OMIM:620351
6329	SCN4A	HP:0000431	Wide nasal bridge	1/10	OMIM:620369
6329	SCN4A	HP:0025709	Intermediate young adult onset	1/1	OMIM:613345
6329	SCN4A	HP:0000520	Proptosis	1/5	OMIM:620351
6329	SCN4A	HP:0000520	Proptosis	1/10	OMIM:620369
6329	SCN4A	HP:0000508	Ptosis	1/1	OMIM:614198
6329	SCN4A	HP:0000508	Ptosis	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0000508	Ptosis	2/2	OMIM:620351
6329	SCN4A	HP:0000597	Ophthalmoparesis	HP:0040283	ORPHA:99735
6329	SCN4A	HP:0000597	Ophthalmoparesis	HP:0040283	ORPHA:99736
6329	SCN4A	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:98913
6329	SCN4A	HP:0000597	Ophthalmoparesis	HP:0040283	ORPHA:682
6329	SCN4A	HP:0012548	Fatty replacement of skeletal muscle	HP:0040283	ORPHA:681
6329	SCN4A	HP:0012531	Pain	HP:0040283	ORPHA:681
6329	SCN4A	HP:0001883	Talipes	1/5	OMIM:620351
6329	SCN4A	HP:0001883	Talipes	6/10	OMIM:620369
6329	SCN4A	HP:0012515	Hip flexor weakness	HP:0040283	ORPHA:98913
6329	SCN4A	HP:0000544	External ophthalmoplegia	1/1	OMIM:614198
6329	SCN4A	HP:0000544	External ophthalmoplegia	1/1	OMIM:620351
6330	SCN4B	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
6330	SCN4B	HP:0001279	Syncope	HP:0040282	ORPHA:334
6330	SCN4B	HP:0001279	Syncope	HP:0040282	ORPHA:101016
6330	SCN4B	HP:0001250	Seizure	HP:0040283	ORPHA:101016
6330	SCN4B	HP:0000006	Autosomal dominant inheritance	-	OMIM:611819
6330	SCN4B	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
6330	SCN4B	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
6330	SCN4B	HP:0003581	Adult onset	1/3	OMIM:611819
6330	SCN4B	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
6330	SCN4B	HP:0100749	Chest pain	HP:0040282	ORPHA:334
6330	SCN4B	HP:0002321	Vertigo	HP:0040282	ORPHA:334
6330	SCN4B	HP:0003621	Juvenile onset	1/3	OMIM:611819
6330	SCN4B	HP:0001962	Palpitations	HP:0040282	ORPHA:334
6330	SCN4B	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
6330	SCN4B	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
6330	SCN4B	HP:0011463	Childhood onset	1/3	OMIM:611819
6330	SCN4B	HP:0012266	T-wave alternans	-	OMIM:611819
6330	SCN4B	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
6330	SCN4B	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
6330	SCN4B	HP:0005110	Atrial fibrillation	HP:0040283	OMIM:611819
6330	SCN4B	HP:0012378	Fatigue	HP:0040282	ORPHA:334
6330	SCN4B	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
6330	SCN4B	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
6330	SCN4B	HP:0000365	Hearing impairment	-	ORPHA:101016
6330	SCN4B	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
6330	SCN4B	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
6330	SCN4B	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
6330	SCN4B	HP:0001678	Atrioventricular block	-	OMIM:611819
6330	SCN4B	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
6330	SCN4B	HP:0001645	Sudden cardiac death	2/10	OMIM:611819
6330	SCN4B	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
6330	SCN4B	HP:0001657	Prolonged QT interval	-	OMIM:611819
6330	SCN4B	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
6331	SCN5A	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
6331	SCN5A	HP:0410174	Increased circulating troponin T concentration	HP:0040282	ORPHA:1344
6331	SCN5A	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
6331	SCN5A	HP:0001297	Stroke	3/6	OMIM:614022
6331	SCN5A	HP:0001297	Stroke	6/21	OMIM:601154
6331	SCN5A	HP:0001279	Syncope	HP:0040282	ORPHA:334
6331	SCN5A	HP:0001279	Syncope	HP:0040282	ORPHA:101016
6331	SCN5A	HP:0001279	Syncope	HP:0040283	ORPHA:1344
6331	SCN5A	HP:0001279	Syncope	-	OMIM:601154
6331	SCN5A	HP:0001279	Syncope	-	OMIM:113900
6331	SCN5A	HP:0001279	Syncope	HP:0040282	ORPHA:871
6331	SCN5A	HP:0001279	Syncope	27/49	OMIM:601144
6331	SCN5A	HP:0001279	Syncope	-	OMIM:603830
6331	SCN5A	HP:0001279	Syncope	HP:0040282	ORPHA:130
6331	SCN5A	HP:0001279	Syncope	-	OMIM:603829
6331	SCN5A	HP:0001250	Seizure	HP:0040283	ORPHA:101016
6331	SCN5A	HP:0001260	Dysarthria	HP:0040283	ORPHA:1344
6331	SCN5A	HP:0001371	Flexion contracture	HP:0040283	ORPHA:1344
6331	SCN5A	HP:0000007	Autosomal recessive inheritance	-	OMIM:272120
6331	SCN5A	HP:0000007	Autosomal recessive inheritance	-	OMIM:608567
6331	SCN5A	HP:0000006	Autosomal dominant inheritance	-	OMIM:113900
6331	SCN5A	HP:0000006	Autosomal dominant inheritance	-	OMIM:603830
6331	SCN5A	HP:0000006	Autosomal dominant inheritance	-	OMIM:601154
6331	SCN5A	HP:0000006	Autosomal dominant inheritance	-	OMIM:601144
6331	SCN5A	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
6331	SCN5A	HP:0000006	Autosomal dominant inheritance	-	OMIM:614022
6331	SCN5A	HP:0025478	Atrial standstill	-	OMIM:601154
6331	SCN5A	HP:0025478	Atrial standstill	HP:0040281	ORPHA:1344
6331	SCN5A	HP:0031295	Left atrial enlargement	1/2	OMIM:614022
6331	SCN5A	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
6331	SCN5A	HP:0001426	Non-Mendelian inheritance	-	OMIM:272120
6331	SCN5A	HP:0030973	Postexertional symptom exacerbation	HP:0040282	ORPHA:1344
6331	SCN5A	HP:0002018	Nausea	HP:0040283	ORPHA:1344
6331	SCN5A	HP:0002027	Abdominal pain	HP:0040282	ORPHA:871
6331	SCN5A	HP:0005949	Apneic episodes in infancy	-	OMIM:272120
6331	SCN5A	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
6331	SCN5A	HP:0002094	Dyspnea	HP:0040282	ORPHA:1344
6331	SCN5A	HP:0002094	Dyspnea	-	OMIM:113900
6331	SCN5A	HP:0002094	Dyspnea	HP:0040282	ORPHA:871
6331	SCN5A	HP:0002047	Malignant hyperthermia	-	OMIM:272120
6331	SCN5A	HP:0033122	Absent P wave	-	OMIM:608567
6331	SCN5A	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
6331	SCN5A	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
6331	SCN5A	HP:0011711	Left anterior fascicular block	3/15	OMIM:113900
6331	SCN5A	HP:0011712	Complete right bundle branch block	-	OMIM:601144
6331	SCN5A	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
6331	SCN5A	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:1344
6331	SCN5A	HP:0011712	Complete right bundle branch block	2/21	OMIM:601154
6331	SCN5A	HP:0011712	Complete right bundle branch block	5/15	OMIM:113900
6331	SCN5A	HP:0011713	Left bundle branch block	1/21	OMIM:601154
6331	SCN5A	HP:0011710	Bundle branch block	HP:0040282	ORPHA:871
6331	SCN5A	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
6331	SCN5A	HP:0011704	Sick sinus syndrome	HP:0040282	ORPHA:1344
6331	SCN5A	HP:0011704	Sick sinus syndrome	-	OMIM:608567
6331	SCN5A	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
6331	SCN5A	HP:0011707	Mobitz I atrioventricular block	HP:0040283	ORPHA:1344
6331	SCN5A	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:1344
6331	SCN5A	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
6331	SCN5A	HP:0004757	Paroxysmal atrial fibrillation	1/2	OMIM:614022
6331	SCN5A	HP:0004756	Ventricular tachycardia	1/1	OMIM:603830
6331	SCN5A	HP:0004756	Ventricular tachycardia	HP:0040283	ORPHA:1344
6331	SCN5A	HP:0004755	Supraventricular tachycardia	1/21	OMIM:601154
6331	SCN5A	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
6331	SCN5A	HP:0004754	Permanent atrial fibrillation	1/2	OMIM:614022
6331	SCN5A	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
6331	SCN5A	HP:0004749	Atrial flutter	3/49	OMIM:601144
6331	SCN5A	HP:0004749	Atrial flutter	1/5	OMIM:614022
6331	SCN5A	HP:0004749	Atrial flutter	-	OMIM:601154
6331	SCN5A	HP:0011841	Ventricular flutter	1/1	OMIM:603830
6331	SCN5A	HP:0003596	Middle age onset	2/2	OMIM:614022
6331	SCN5A	HP:0003577	Congenital onset	-	OMIM:608567
6331	SCN5A	HP:0003581	Adult onset	1/5	OMIM:603830
6331	SCN5A	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
6331	SCN5A	HP:0003560	Muscular dystrophy	HP:0040282	ORPHA:1344
6331	SCN5A	HP:0100749	Chest pain	HP:0040282	ORPHA:334
6331	SCN5A	HP:0002381	Aphasia	HP:0040283	ORPHA:1344
6331	SCN5A	HP:0002321	Vertigo	HP:0040282	ORPHA:334
6331	SCN5A	HP:0002321	Vertigo	HP:0040283	ORPHA:1344
6331	SCN5A	HP:0002321	Vertigo	HP:0040282	ORPHA:871
6331	SCN5A	HP:0002315	Headache	HP:0040283	ORPHA:1344
6331	SCN5A	HP:0002301	Hemiplegia	HP:0040283	ORPHA:1344
6331	SCN5A	HP:0003621	Juvenile onset	3/5	OMIM:603830
6331	SCN5A	HP:0003621	Juvenile onset	-	OMIM:608567
6331	SCN5A	HP:0003621	Juvenile onset	3/8	OMIM:601154
6331	SCN5A	HP:0001962	Palpitations	HP:0040282	ORPHA:334
6331	SCN5A	HP:0001962	Palpitations	HP:0040281	ORPHA:1344
6331	SCN5A	HP:0001962	Palpitations	-	OMIM:601154
6331	SCN5A	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
6331	SCN5A	HP:0001907	Thromboembolism	HP:0040283	ORPHA:1344
6331	SCN5A	HP:0012664	Reduced left ventricular ejection fraction	HP:0040282	ORPHA:1344
6331	SCN5A	HP:0012664	Reduced left ventricular ejection fraction	20/21	OMIM:601154
6331	SCN5A	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
6331	SCN5A	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
6331	SCN5A	HP:0030682	Left ventricular noncompaction	HP:0040282	ORPHA:1344
6331	SCN5A	HP:0034198	Second trimester onset	1/1	OMIM:603830
6331	SCN5A	HP:0012722	Heart block	HP:0040282	ORPHA:871
6331	SCN5A	HP:0011463	Childhood onset	1/5	OMIM:603830
6331	SCN5A	HP:0011463	Childhood onset	-	OMIM:608567
6331	SCN5A	HP:0011462	Young adult onset	5/8	OMIM:601154
6331	SCN5A	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
6331	SCN5A	HP:0003198	Myopathy	HP:0040283	ORPHA:154
6331	SCN5A	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:1344
6331	SCN5A	HP:0000969	Edema	HP:0040282	ORPHA:154
6331	SCN5A	HP:0011688	Supraventricular tachycardia with an accessory connection mediated pathway	5/49	OMIM:601144
6331	SCN5A	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
6331	SCN5A	HP:0011675	Arrhythmia	HP:0040282	ORPHA:1344
6331	SCN5A	HP:0011675	Arrhythmia	HP:0040282	ORPHA:871
6331	SCN5A	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
6331	SCN5A	HP:0012248	Prolonged PR interval	8/15	OMIM:113900
6331	SCN5A	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
6331	SCN5A	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
6331	SCN5A	HP:0005133	Right ventricular dilatation	3/6	OMIM:614022
6331	SCN5A	HP:0005110	Atrial fibrillation	21/49	OMIM:601144
6331	SCN5A	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
6331	SCN5A	HP:0005110	Atrial fibrillation	10/21	OMIM:601154
6331	SCN5A	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
6331	SCN5A	HP:0012378	Fatigue	HP:0040282	ORPHA:154
6331	SCN5A	HP:0012378	Fatigue	HP:0040282	ORPHA:334
6331	SCN5A	HP:0012378	Fatigue	HP:0040282	ORPHA:1344
6331	SCN5A	HP:0005172	Left posterior fascicular block	3/15	OMIM:113900
6331	SCN5A	HP:0005170	Complete heart block with broad QRS complexes	-	OMIM:113900
6331	SCN5A	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
6331	SCN5A	HP:0005184	Prolonged QTc interval	4/4	OMIM:603830
6331	SCN5A	HP:0005180	Tricuspid regurgitation	2/2	OMIM:614022
6331	SCN5A	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
6331	SCN5A	HP:0005155	Ventricular escape rhythm	HP:0040281	ORPHA:1344
6331	SCN5A	HP:0005155	Ventricular escape rhythm	-	OMIM:608567
6331	SCN5A	HP:0000365	Hearing impairment	-	ORPHA:101016
6331	SCN5A	HP:0001695	Cardiac arrest	11/49	OMIM:601144
6331	SCN5A	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
6331	SCN5A	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
6331	SCN5A	HP:0001688	Sinus bradycardia	-	OMIM:608567
6331	SCN5A	HP:0001699	Sudden death	-	OMIM:113900
6331	SCN5A	HP:0001699	Sudden death	-	OMIM:272120
6331	SCN5A	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
6331	SCN5A	HP:0001664	Torsade de pointes	11/11	OMIM:603830
6331	SCN5A	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
6331	SCN5A	HP:0001664	Torsade de pointes	1/46	OMIM:115000
6331	SCN5A	HP:0001678	Atrioventricular block	-	OMIM:601154
6331	SCN5A	HP:0001678	Atrioventricular block	-	OMIM:608567
6331	SCN5A	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
6331	SCN5A	HP:0001649	Tachycardia	-	OMIM:603829
6331	SCN5A	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
6331	SCN5A	HP:0001645	Sudden cardiac death	-	OMIM:113900
6331	SCN5A	HP:0001645	Sudden cardiac death	-	OMIM:115000
6331	SCN5A	HP:0001645	Sudden cardiac death	-	OMIM:601144
6331	SCN5A	HP:0001645	Sudden cardiac death	2/5	OMIM:603830
6331	SCN5A	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
6331	SCN5A	HP:0001644	Dilated cardiomyopathy	-	OMIM:601154
6331	SCN5A	HP:0001663	Ventricular fibrillation	26/49	OMIM:601144
6331	SCN5A	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
6331	SCN5A	HP:0001663	Ventricular fibrillation	-	OMIM:603829
6331	SCN5A	HP:0001663	Ventricular fibrillation	-	OMIM:603830
6331	SCN5A	HP:0001663	Ventricular fibrillation	-	OMIM:115000
6331	SCN5A	HP:0001662	Bradycardia	5/6	OMIM:614022
6331	SCN5A	HP:0001662	Bradycardia	HP:0040283	ORPHA:1344
6331	SCN5A	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
6331	SCN5A	HP:0001657	Prolonged QT interval	-	OMIM:608567
6331	SCN5A	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:1344
6331	SCN5A	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
6331	SCN5A	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:1344
6331	SCN5A	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:871
6331	SCN5A	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:1344
6331	SCN5A	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
6331	SCN5A	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
6331	SCN5A	HP:0006699	Premature atrial contractions	-	OMIM:601154
6331	SCN5A	HP:0006682	Premature ventricular contraction	1/21	OMIM:601154
6331	SCN5A	HP:0006673	Reduced systolic function	-	OMIM:601154
6331	SCN5A	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
6331	SCN5A	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
6331	SCN5A	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
6331	SCN5A	HP:0001712	Left ventricular hypertrophy	1/6	OMIM:614022
6331	SCN5A	HP:0031546	Cardiac conduction abnormality	HP:0040281	ORPHA:1344
6331	SCN5A	HP:0001790	Nonimmune hydrops fetalis	1/1	OMIM:603830
6331	SCN5A	HP:0001789	Hydrops fetalis	1/1	OMIM:603830
6331	SCN5A	HP:0031595	Abnormal P wave	HP:0040281	ORPHA:1344
6334	SCN8A	HP:0025162	Severe temper tantrums	1/2	OMIM:614306
6334	SCN8A	HP:0020221	Clonic seizure	1/1	OMIM:614558
6334	SCN8A	HP:0010864	Intellectual disability, severe	1/1	OMIM:614558
6334	SCN8A	HP:0010850	EEG with spike-wave complexes	1/1	OMIM:614558
6334	SCN8A	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
6334	SCN8A	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
6334	SCN8A	HP:0001290	Generalized hypotonia	HP:0040284	OMIM:614306
6334	SCN8A	HP:0001276	Hypertonia	HP:0040283	ORPHA:306
6334	SCN8A	HP:0001272	Cerebellar atrophy	1/1	OMIM:614306
6334	SCN8A	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0001270	Motor delay	6/7	OMIM:614558
6334	SCN8A	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0001256	Intellectual disability, mild	1/2	OMIM:614306
6334	SCN8A	HP:0001250	Seizure	0/2	OMIM:618364
6334	SCN8A	HP:0001250	Seizure	HP:0040282	ORPHA:442835
6334	SCN8A	HP:0001250	Seizure	HP:0040282	ORPHA:31709
6334	SCN8A	HP:0001252	Hypotonia	1/3	OMIM:614306
6334	SCN8A	HP:0001252	Hypotonia	4/7	OMIM:614558
6334	SCN8A	HP:0001251	Ataxia	1/1	OMIM:614306
6334	SCN8A	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0001249	Intellectual disability	0/2	OMIM:618364
6334	SCN8A	HP:0001249	Intellectual disability	1/1	OMIM:614306
6334	SCN8A	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
6334	SCN8A	HP:0001249	Intellectual disability	1/1	OMIM:614558
6334	SCN8A	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
6334	SCN8A	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:31709
6334	SCN8A	HP:0001260	Dysarthria	1/1	OMIM:614306
6334	SCN8A	HP:0001263	Global developmental delay	3/3	OMIM:614306
6334	SCN8A	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
6334	SCN8A	HP:0001263	Global developmental delay	9/9	OMIM:614558
6334	SCN8A	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0410263	Brain imaging abnormality	-	ORPHA:306
6334	SCN8A	HP:0410263	Brain imaging abnormality	-	ORPHA:31709
6334	SCN8A	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:306
6334	SCN8A	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:31709
6334	SCN8A	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:306
6334	SCN8A	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/7	OMIM:614558
6334	SCN8A	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
6334	SCN8A	HP:0025312	Esophoria	1/1	OMIM:614306
6334	SCN8A	HP:0012002	Experiential epileptic aura	HP:0040283	ORPHA:31709
6334	SCN8A	HP:0001332	Dystonia	0/2	OMIM:618364
6334	SCN8A	HP:0001332	Dystonia	HP:0040282	ORPHA:31709
6334	SCN8A	HP:0001337	Tremor	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0000006	Autosomal dominant inheritance	-	OMIM:618364
6334	SCN8A	HP:0000006	Autosomal dominant inheritance	-	OMIM:617080
6334	SCN8A	HP:0000006	Autosomal dominant inheritance	-	OMIM:614558
6334	SCN8A	HP:0000006	Autosomal dominant inheritance	-	OMIM:614306
6334	SCN8A	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0001310	Dysmetria	1/1	OMIM:614306
6334	SCN8A	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:306
6334	SCN8A	HP:0002069	Bilateral tonic-clonic seizure	4/8	OMIM:614558
6334	SCN8A	HP:0002069	Bilateral tonic-clonic seizure	15/16	OMIM:617080
6334	SCN8A	HP:0002066	Gait ataxia	1/2	OMIM:614306
6334	SCN8A	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0002072	Chorea	HP:0040282	ORPHA:31709
6334	SCN8A	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0002059	Cerebral atrophy	4/8	OMIM:614558
6334	SCN8A	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:306
6334	SCN8A	HP:0002121	Generalized non-motor (absence) seizure	1/7	OMIM:614558
6334	SCN8A	HP:0002133	Status epilepticus	HP:0040284	ORPHA:306
6334	SCN8A	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
6334	SCN8A	HP:0002104	Apnea	HP:0040282	ORPHA:306
6334	SCN8A	HP:0002187	Intellectual disability, profound	5/7	OMIM:614558
6334	SCN8A	HP:0033258	Sudden unexpected death in epilepsy	0/7	OMIM:614558
6334	SCN8A	HP:0002266	Focal clonic seizure	HP:0040282	ORPHA:306
6334	SCN8A	HP:0003593	Infantile onset	8/16	OMIM:617080
6334	SCN8A	HP:0003593	Infantile onset	7/9	OMIM:614558
6334	SCN8A	HP:0003577	Congenital onset	1/7	OMIM:614558
6334	SCN8A	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0200134	Epileptic encephalopathy	-	OMIM:614558
6334	SCN8A	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0007018	Attention deficit hyperactivity disorder	2/3	OMIM:614306
6334	SCN8A	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:306
6334	SCN8A	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:31709
6334	SCN8A	HP:0002384	Focal impaired awareness seizure	3/16	OMIM:617080
6334	SCN8A	HP:0002361	Psychomotor deterioration	-	ORPHA:306
6334	SCN8A	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
6334	SCN8A	HP:0002376	Developmental regression	4/9	OMIM:614558
6334	SCN8A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/7	OMIM:614558
6334	SCN8A	HP:0002372	Normal interictal EEG	HP:0040281	ORPHA:31709
6334	SCN8A	HP:0002372	Normal interictal EEG	HP:0040281	ORPHA:306
6334	SCN8A	HP:0003680	Nonprogressive	-	OMIM:618364
6334	SCN8A	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0010841	Multifocal epileptiform discharges	1/1	OMIM:614558
6334	SCN8A	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
6334	SCN8A	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:306
6334	SCN8A	HP:0007166	Paroxysmal dyskinesia	5/16	OMIM:617080
6334	SCN8A	HP:0007166	Paroxysmal dyskinesia	HP:0040282	ORPHA:31709
6334	SCN8A	HP:0003623	Neonatal onset	1/2	OMIM:614306
6334	SCN8A	HP:0003623	Neonatal onset	1/7	OMIM:614558
6334	SCN8A	HP:0002305	Athetosis	HP:0040282	ORPHA:31709
6334	SCN8A	HP:0006813	Focal hemiclonic seizure	1/7	OMIM:614558
6334	SCN8A	HP:0006889	Intellectual disability, borderline	1/2	OMIM:614306
6334	SCN8A	HP:0000640	Gaze-evoked nystagmus	1/1	OMIM:614306
6334	SCN8A	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0000646	Amblyopia	1/1	OMIM:614306
6334	SCN8A	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
6334	SCN8A	HP:0000609	Optic nerve hypoplasia	1/1	OMIM:614306
6334	SCN8A	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0004322	Short stature	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0004305	Involuntary movements	HP:0040282	ORPHA:31709
6334	SCN8A	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0031936	Delayed ability to walk	1/2	OMIM:618364
6334	SCN8A	HP:0000750	Delayed speech and language development	2/3	OMIM:614306
6334	SCN8A	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
6334	SCN8A	HP:0000717	Autism	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0000729	Autistic behavior	1/1	OMIM:614558
6334	SCN8A	HP:0000722	Compulsive behaviors	1/1	OMIM:614558
6334	SCN8A	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0011463	Childhood onset	8/16	OMIM:617080
6334	SCN8A	HP:0011463	Childhood onset	1/2	OMIM:614306
6334	SCN8A	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
6334	SCN8A	HP:0045084	Limb myoclonus	5/5	OMIM:618364
6334	SCN8A	HP:0045084	Limb myoclonus	HP:0040283	ORPHA:306
6334	SCN8A	HP:0000961	Cyanosis	HP:0040283	ORPHA:306
6334	SCN8A	HP:0000253	Progressive microcephaly	-	OMIM:614558
6334	SCN8A	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0000252	Microcephaly	1/1	OMIM:614558
6334	SCN8A	HP:0001561	Polyhydramnios	1/2	OMIM:614306
6334	SCN8A	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0032678	Eyelid myoclonia seizure	HP:0040283	ORPHA:306
6334	SCN8A	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
6334	SCN8A	HP:0032807	Neonatal seizure	HP:0040281	ORPHA:306
6334	SCN8A	HP:0011097	Epileptic spasm	1/1	OMIM:614558
6334	SCN8A	HP:0032823	Neonatal electro-clinical seizure with behavior arrest	HP:0040283	ORPHA:306
6334	SCN8A	HP:0032755	Focal impaired awareness autonomic seizure	HP:0040282	ORPHA:31709
6334	SCN8A	HP:0032792	Tonic seizure	2/8	OMIM:614558
6334	SCN8A	HP:0000348	High forehead	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0011182	Interictal epileptiform activity	HP:0040284	ORPHA:306
6334	SCN8A	HP:0011169	Generalized clonic seizure	1/7	OMIM:614558
6334	SCN8A	HP:0011169	Generalized clonic seizure	HP:0040282	ORPHA:306
6334	SCN8A	HP:0011172	Complex febrile seizure	HP:0040283	ORPHA:31709
6334	SCN8A	HP:0011171	Simple febrile seizure	HP:0040284	ORPHA:306
6334	SCN8A	HP:0011167	Focal tonic seizure	1/7	OMIM:614558
6334	SCN8A	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:306
6334	SCN8A	HP:0011153	Focal motor seizure	HP:0040282	ORPHA:306
6334	SCN8A	HP:0032906	Focal head nodding automatism seizure	HP:0040283	ORPHA:306
6334	SCN8A	HP:0000486	Strabismus	1/1	OMIM:614306
6334	SCN8A	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
6334	SCN8A	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
6334	SCN8A	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
6334	SCN8A	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
6335	SCN9A	HP:0001182	Tapered finger	HP:0040281	ORPHA:970
6335	SCN9A	HP:0025101	Dysgenesis of the hippocampus	HP:0040283	ORPHA:33069
6335	SCN9A	HP:0007328	Impaired pain sensation	-	OMIM:167400
6335	SCN9A	HP:0007270	Atypical absence seizure	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0007240	Progressive gait ataxia	HP:0040281	ORPHA:33069
6335	SCN9A	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:36387
6335	SCN9A	HP:0001290	Generalized hypotonia	-	OMIM:201300
6335	SCN9A	HP:0001284	Areflexia	-	OMIM:201300
6335	SCN9A	HP:0001250	Seizure	HP:0040281	ORPHA:46348
6335	SCN9A	HP:0001252	Hypotonia	-	OMIM:201300
6335	SCN9A	HP:0001252	Hypotonia	HP:0040283	ORPHA:36387
6335	SCN9A	HP:0001251	Ataxia	HP:0040283	ORPHA:36387
6335	SCN9A	HP:0001249	Intellectual disability	0/9	OMIM:243000
6335	SCN9A	HP:0001265	Hyporeflexia	0/7	OMIM:243000
6335	SCN9A	HP:0001265	Hyporeflexia	-	OMIM:201300
6335	SCN9A	HP:0008770	Obsessive-compulsive trait	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0008770	Obsessive-compulsive trait	HP:0040284	ORPHA:36387
6335	SCN9A	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:36387
6335	SCN9A	HP:0007359	Focal-onset seizure	HP:0040281	ORPHA:33069
6335	SCN9A	HP:0002539	Cortical dysplasia	HP:0040283	ORPHA:36387
6335	SCN9A	HP:0000020	Urinary incontinence	-	OMIM:243000
6335	SCN9A	HP:0008872	Feeding difficulties in infancy	-	OMIM:201300
6335	SCN9A	HP:0007460	Autoamputation of digits	-	OMIM:201300
6335	SCN9A	HP:0006121	Acral ulceration	-	OMIM:201300
6335	SCN9A	HP:0002661	Painless fractures due to injury	-	OMIM:201300
6335	SCN9A	HP:0002661	Painless fractures due to injury	-	OMIM:243000
6335	SCN9A	HP:0001327	Photosensitive myoclonic seizure	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0000007	Autosomal recessive inheritance	-	OMIM:201300
6335	SCN9A	HP:0000007	Autosomal recessive inheritance	-	OMIM:243000
6335	SCN9A	HP:0001337	Tremor	HP:0040284	ORPHA:36387
6335	SCN9A	HP:0000006	Autosomal dominant inheritance	-	OMIM:133020
6335	SCN9A	HP:0000006	Autosomal dominant inheritance	-	OMIM:167400
6335	SCN9A	HP:0001336	Myoclonus	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0002633	Vasculitis	HP:0040283	ORPHA:90026
6335	SCN9A	HP:0002645	Wormian bones	HP:0040281	ORPHA:970
6335	SCN9A	HP:0001300	Parkinsonism	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0002797	Osteolysis	HP:0040281	ORPHA:970
6335	SCN9A	HP:0008947	Floppy infant	HP:0040283	ORPHA:33069
6335	SCN9A	HP:0031284	Flushing	-	OMIM:167400
6335	SCN9A	HP:0500005	Anal pain	-	OMIM:167400
6335	SCN9A	HP:0004684	Talipes valgus	HP:0040284	ORPHA:36387
6335	SCN9A	HP:0002020	Gastroesophageal reflux	-	OMIM:201300
6335	SCN9A	HP:0002019	Constipation	-	OMIM:133020
6335	SCN9A	HP:0002019	Constipation	HP:0040282	ORPHA:46348
6335	SCN9A	HP:0003326	Myalgia	-	OMIM:133020
6335	SCN9A	HP:0002014	Diarrhea	-	OMIM:133020
6335	SCN9A	HP:0003307	Hyperlordosis	HP:0040281	ORPHA:970
6335	SCN9A	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:36387
6335	SCN9A	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:36387
6335	SCN9A	HP:0002067	Bradykinesia	HP:0040284	ORPHA:36387
6335	SCN9A	HP:0002067	Bradykinesia	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0002063	Rigidity	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0002045	Hypothermia	HP:0040283	ORPHA:90026
6335	SCN9A	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:201300
6335	SCN9A	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:970
6335	SCN9A	HP:0040264	Jaw pain	-	OMIM:133020
6335	SCN9A	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:36387
6335	SCN9A	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:36387
6335	SCN9A	HP:0003448	Decreased sensory nerve conduction velocity	-	OMIM:201300
6335	SCN9A	HP:0002133	Status epilepticus	HP:0040284	ORPHA:36387
6335	SCN9A	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:36387
6335	SCN9A	HP:0003401	Paresthesia	0/9	OMIM:243000
6335	SCN9A	HP:0003593	Infantile onset	-	OMIM:201300
6335	SCN9A	HP:0003577	Congenital onset	15/15	OMIM:243000
6335	SCN9A	HP:0100710	Impulsivity	HP:0040283	ORPHA:33069
6335	SCN9A	HP:0200101	Decreased/absent ankle reflexes	HP:0040283	ORPHA:90026
6335	SCN9A	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:90026
6335	SCN9A	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:33069
6335	SCN9A	HP:0007021	Pain insensitivity	15/15	OMIM:243000
6335	SCN9A	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:33069
6335	SCN9A	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:36387
6335	SCN9A	HP:0008391	Dystrophic fingernails	HP:0040281	ORPHA:970
6335	SCN9A	HP:0007058	Generalized cerebral atrophy/hypoplasia	HP:0040283	ORPHA:36387
6335	SCN9A	HP:0002384	Focal impaired awareness seizure	HP:0040284	ORPHA:36387
6335	SCN9A	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0001069	Episodic hyperhidrosis	-	OMIM:201300
6335	SCN9A	HP:0002396	Cogwheel rigidity	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0002376	Developmental regression	HP:0040283	ORPHA:36387
6335	SCN9A	HP:0002376	Developmental regression	HP:0040281	ORPHA:33069
6335	SCN9A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:36387
6335	SCN9A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0002345	Action tremor	HP:0040283	ORPHA:33069
6335	SCN9A	HP:0002349	Focal aware seizure	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0003677	Slowly progressive	-	OMIM:201300
6335	SCN9A	HP:0010841	Multifocal epileptiform discharges	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0200026	Ocular pain	-	OMIM:167400
6335	SCN9A	HP:0200025	Mandibular pain	-	OMIM:167400
6335	SCN9A	HP:0007207	Photosensitive tonic-clonic seizure	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0010830	Impaired tactile sensation	0/9	OMIM:243000
6335	SCN9A	HP:0010831	Impaired proprioception	0/9	OMIM:243000
6335	SCN9A	HP:0010829	Impaired temperature sensation	0/9	OMIM:243000
6335	SCN9A	HP:0010819	Atonic seizure	HP:0040283	ORPHA:36387
6335	SCN9A	HP:0010818	Generalized tonic seizure	HP:0040284	ORPHA:33069
6335	SCN9A	HP:0009830	Peripheral neuropathy	-	OMIM:201300
6335	SCN9A	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:90026
6335	SCN9A	HP:0001097	Keratoconjunctivitis sicca	-	OMIM:133020
6335	SCN9A	HP:0200048	Cyanotic episode	HP:0040283	ORPHA:33069
6335	SCN9A	HP:0010783	Erythema	HP:0040281	ORPHA:90026
6335	SCN9A	HP:0032147	Erythromelalgia	HP:0040281	ORPHA:90026
6335	SCN9A	HP:0032147	Erythromelalgia	-	OMIM:133020
6335	SCN9A	HP:0100694	Tibial torsion	HP:0040283	ORPHA:33069
6335	SCN9A	HP:0100694	Tibial torsion	HP:0040284	ORPHA:36387
6335	SCN9A	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:201300
6335	SCN9A	HP:0010741	Pedal edema	HP:0040283	ORPHA:90026
6335	SCN9A	HP:0003623	Neonatal onset	-	OMIM:167400
6335	SCN9A	HP:0002311	Incoordination	HP:0040283	ORPHA:33069
6335	SCN9A	HP:0002311	Incoordination	HP:0040283	ORPHA:36387
6335	SCN9A	HP:0002307	Drooling	HP:0040283	ORPHA:33069
6335	SCN9A	HP:0003621	Juvenile onset	-	OMIM:133020
6335	SCN9A	HP:0006813	Focal hemiclonic seizure	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0001962	Palpitations	-	OMIM:133020
6335	SCN9A	HP:0000632	Lacrimation abnormality	-	OMIM:167400
6335	SCN9A	HP:0000622	Blurred vision	-	OMIM:133020
6335	SCN9A	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:201300
6335	SCN9A	HP:0001909	Leukemia	HP:0040283	ORPHA:90026
6335	SCN9A	HP:0003066	Limited knee extension	HP:0040283	ORPHA:33069
6335	SCN9A	HP:0003066	Limited knee extension	HP:0040284	ORPHA:36387
6335	SCN9A	HP:0003028	Abnormality of the ankle	HP:0040281	ORPHA:970
6335	SCN9A	HP:0004349	Reduced bone mineral density	HP:0040281	ORPHA:970
6335	SCN9A	HP:0000762	Decreased nerve conduction velocity	-	OMIM:201300
6335	SCN9A	HP:0000739	Anxiety	HP:0040284	ORPHA:36387
6335	SCN9A	HP:0000739	Anxiety	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0000736	Short attention span	HP:0040283	ORPHA:33069
6335	SCN9A	HP:0000729	Autistic behavior	HP:0040284	ORPHA:36387
6335	SCN9A	HP:0000729	Autistic behavior	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0011468	Facial tics	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0003103	Abnormal cortical bone morphology	HP:0040281	ORPHA:970
6335	SCN9A	HP:0004409	Hyposmia	-	OMIM:243000
6335	SCN9A	HP:0040129	Abnormal nerve conduction velocity	0/6	OMIM:243000
6335	SCN9A	HP:0012847	Epilepsia partialis continua	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:970
6335	SCN9A	HP:0003272	Abnormal hip bone morphology	HP:0040281	ORPHA:970
6335	SCN9A	HP:0008000	Decreased corneal reflex	-	OMIM:201300
6335	SCN9A	HP:0000980	Pallor	HP:0040283	ORPHA:33069
6335	SCN9A	HP:0000975	Hyperhidrosis	-	OMIM:133020
6335	SCN9A	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:970
6335	SCN9A	HP:0000989	Pruritus	-	OMIM:133020
6335	SCN9A	HP:0000989	Pruritus	HP:0040282	ORPHA:90026
6335	SCN9A	HP:0000970	Anhidrosis	-	OMIM:201300
6335	SCN9A	HP:0000970	Anhidrosis	-	OMIM:243000
6335	SCN9A	HP:0000966	Hypohidrosis	-	OMIM:243000
6335	SCN9A	HP:0008081	Pes valgus	HP:0040283	ORPHA:33069
6335	SCN9A	HP:0031417	Rhinorrhea	-	OMIM:167400
6335	SCN9A	HP:0002815	Abnormality of the knee	HP:0040281	ORPHA:970
6335	SCN9A	HP:0000217	Xerostomia	-	OMIM:133020
6335	SCN9A	HP:0000224	Hypogeusia	-	OMIM:201300
6335	SCN9A	HP:0002936	Distal sensory impairment	HP:0040283	ORPHA:90026
6335	SCN9A	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	OMIM:133020
6335	SCN9A	HP:0012332	Abnormal autonomic nervous system physiology	0/9	OMIM:243000
6335	SCN9A	HP:0001649	Tachycardia	-	OMIM:167400
6335	SCN9A	HP:0001662	Bradycardia	-	OMIM:167400
6335	SCN9A	HP:0031475	Status epilepticus without prominent motor symptoms	HP:0040283	ORPHA:33069
6335	SCN9A	HP:0011198	EEG with generalized epileptiform discharges	HP:0040283	ORPHA:33069
6335	SCN9A	HP:0011185	EEG with focal epileptiform discharges	HP:0040283	ORPHA:33069
6335	SCN9A	HP:0011182	Interictal epileptiform activity	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0011169	Generalized clonic seizure	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0011172	Complex febrile seizure	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0011151	Atypical absence status epilepticus	HP:0040283	ORPHA:36387
6335	SCN9A	HP:0000458	Anosmia	-	OMIM:243000
6335	SCN9A	HP:0000466	Limited neck range of motion	HP:0040282	ORPHA:33069
6335	SCN9A	HP:0001763	Pes planus	HP:0040284	ORPHA:36387
6335	SCN9A	HP:0001763	Pes planus	HP:0040283	ORPHA:33069
6335	SCN9A	HP:0001842	Foot acroosteolysis	HP:0040281	ORPHA:970
6335	SCN9A	HP:0001842	Foot acroosteolysis	-	OMIM:201300
6335	SCN9A	HP:0001818	Paronychia	-	OMIM:201300
6335	SCN9A	HP:0001810	Dystrophic toenail	HP:0040281	ORPHA:970
6335	SCN9A	HP:0012533	Allodynia	HP:0040283	ORPHA:90026
6335	SCN9A	HP:0012534	Dysesthesia	HP:0040283	ORPHA:90026
6335	SCN9A	HP:0001872	Abnormality of thrombocytes	HP:0040283	ORPHA:90026
6335	SCN9A	HP:0012531	Pain	-	OMIM:133020
6336	SCN10A	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
6336	SCN10A	HP:0001279	Syncope	HP:0040282	ORPHA:101016
6336	SCN10A	HP:0001279	Syncope	HP:0040282	ORPHA:130
6336	SCN10A	HP:0001250	Seizure	HP:0040283	ORPHA:101016
6336	SCN10A	HP:0001250	Seizure	HP:0040281	ORPHA:46348
6336	SCN10A	HP:0000006	Autosomal dominant inheritance	-	OMIM:615551
6336	SCN10A	HP:0002633	Vasculitis	HP:0040283	ORPHA:90026
6336	SCN10A	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
6336	SCN10A	HP:0002019	Constipation	HP:0040282	ORPHA:46348
6336	SCN10A	HP:0002045	Hypothermia	HP:0040283	ORPHA:90026
6336	SCN10A	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
6336	SCN10A	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
6336	SCN10A	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
6336	SCN10A	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
6336	SCN10A	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
6336	SCN10A	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
6336	SCN10A	HP:0003581	Adult onset	-	OMIM:615551
6336	SCN10A	HP:0200101	Decreased/absent ankle reflexes	HP:0040283	ORPHA:90026
6336	SCN10A	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:90026
6336	SCN10A	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:90026
6336	SCN10A	HP:0010783	Erythema	HP:0040281	ORPHA:90026
6336	SCN10A	HP:0032147	Erythromelalgia	HP:0040281	ORPHA:90026
6336	SCN10A	HP:0010741	Pedal edema	HP:0040283	ORPHA:90026
6336	SCN10A	HP:0001909	Leukemia	HP:0040283	ORPHA:90026
6336	SCN10A	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
6336	SCN10A	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
6336	SCN10A	HP:0000989	Pruritus	HP:0040282	ORPHA:90026
6336	SCN10A	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
6336	SCN10A	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
6336	SCN10A	HP:0002936	Distal sensory impairment	HP:0040283	ORPHA:90026
6336	SCN10A	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
6336	SCN10A	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
6336	SCN10A	HP:0000365	Hearing impairment	-	ORPHA:101016
6336	SCN10A	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
6336	SCN10A	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
6336	SCN10A	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
6336	SCN10A	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
6336	SCN10A	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
6336	SCN10A	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
6336	SCN10A	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
6336	SCN10A	HP:0012533	Allodynia	HP:0040283	ORPHA:90026
6336	SCN10A	HP:0012534	Dysesthesia	3/3	OMIM:615551
6336	SCN10A	HP:0012534	Dysesthesia	HP:0040283	ORPHA:90026
6336	SCN10A	HP:0001872	Abnormality of thrombocytes	HP:0040283	ORPHA:90026
6337	SCNN1A	HP:0100812	Halitosis	HP:0040283	ORPHA:60033
6337	SCNN1A	HP:0001279	Syncope	HP:0040282	ORPHA:130
6337	SCNN1A	HP:0001217	Clubbing	HP:0040284	ORPHA:60033
6337	SCNN1A	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:526
6337	SCNN1A	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:171876
6337	SCNN1A	HP:0008872	Feeding difficulties in infancy	-	OMIM:264350
6337	SCNN1A	HP:0012092	Abnormality of exocrine pancreas physiology	0/1	OMIM:613021
6337	SCNN1A	HP:0001324	Muscle weakness	HP:0040282	ORPHA:526
6337	SCNN1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:264350
6337	SCNN1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:618126
6337	SCNN1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:613021
6337	SCNN1A	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:526
6337	SCNN1A	HP:0002615	Hypotension	10/10	OMIM:264350
6337	SCNN1A	HP:0031274	Hypovolemic shock	HP:0040282	ORPHA:171876
6337	SCNN1A	HP:0002783	Recurrent lower respiratory tract infections	HP:0040282	ORPHA:60033
6337	SCNN1A	HP:0002795	Abnormal respiratory system physiology	HP:0040281	ORPHA:60033
6337	SCNN1A	HP:0000127	Renal salt wasting	-	OMIM:264350
6337	SCNN1A	HP:0002754	Osteomyelitis	HP:0040283	ORPHA:171876
6337	SCNN1A	HP:0000112	Nephropathy	HP:0040282	ORPHA:526
6337	SCNN1A	HP:0031245	Productive cough	HP:0040281	ORPHA:60033
6337	SCNN1A	HP:0003351	Decreased circulating renin concentration	2/2	OMIM:618126
6337	SCNN1A	HP:0002019	Constipation	HP:0040281	ORPHA:526
6337	SCNN1A	HP:0002014	Diarrhea	-	OMIM:264350
6337	SCNN1A	HP:0002013	Vomiting	HP:0040282	ORPHA:171876
6337	SCNN1A	HP:0002013	Vomiting	-	OMIM:264350
6337	SCNN1A	HP:6000100	Hyperpolarized transepithelial nasal potential difference	0/1	OMIM:613021
6337	SCNN1A	HP:0002097	Emphysema	HP:0040283	ORPHA:60033
6337	SCNN1A	HP:0002094	Dyspnea	HP:0040282	ORPHA:60033
6337	SCNN1A	HP:0100501	Recurrent bronchiolitis	1/1	OMIM:613021
6337	SCNN1A	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	HP:0040281	ORPHA:171876
6337	SCNN1A	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
6337	SCNN1A	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
6337	SCNN1A	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
6337	SCNN1A	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
6337	SCNN1A	HP:0002153	Hyperkalemia	HP:0040281	ORPHA:171876
6337	SCNN1A	HP:0002153	Hyperkalemia	10/10	OMIM:264350
6337	SCNN1A	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
6337	SCNN1A	HP:0002110	Bronchiectasis	HP:0040280	ORPHA:60033
6337	SCNN1A	HP:0002110	Bronchiectasis	-	OMIM:613021
6337	SCNN1A	HP:0002105	Hemoptysis	HP:0040282	ORPHA:60033
6337	SCNN1A	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
6337	SCNN1A	HP:0008242	Pseudohypoaldosteronism	-	OMIM:264350
6337	SCNN1A	HP:0200114	Metabolic alkalosis	2/2	OMIM:618126
6337	SCNN1A	HP:0002205	Recurrent respiratory infections	-	OMIM:264350
6337	SCNN1A	HP:0200117	Recurrent upper and lower respiratory tract infections	HP:0040282	ORPHA:171876
6337	SCNN1A	HP:0100749	Chest pain	HP:0040282	ORPHA:60033
6337	SCNN1A	HP:0011947	Respiratory tract infection	HP:0040281	ORPHA:60033
6337	SCNN1A	HP:0011949	Acute infectious pneumonia	HP:0040283	ORPHA:60033
6337	SCNN1A	HP:0003508	Proportionate short stature	HP:0040283	ORPHA:171876
6337	SCNN1A	HP:0001047	Atopic dermatitis	HP:0040283	ORPHA:171876
6337	SCNN1A	HP:0200039	Pustule	HP:0040283	ORPHA:171876
6337	SCNN1A	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:171876
6337	SCNN1A	HP:0003623	Neonatal onset	-	OMIM:264350
6337	SCNN1A	HP:0003621	Juvenile onset	1/1	OMIM:613021
6337	SCNN1A	HP:0001944	Dehydration	HP:0040282	ORPHA:171876
6337	SCNN1A	HP:0001944	Dehydration	10/10	OMIM:264350
6337	SCNN1A	HP:0001945	Fever	HP:0040283	ORPHA:60033
6337	SCNN1A	HP:0001942	Metabolic acidosis	HP:0040281	ORPHA:171876
6337	SCNN1A	HP:0001942	Metabolic acidosis	10/10	OMIM:264350
6337	SCNN1A	HP:0004319	Decreased circulating aldosterone concentration	2/2	OMIM:618126
6337	SCNN1A	HP:0004326	Cachexia	HP:0040283	ORPHA:60033
6337	SCNN1A	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
6337	SCNN1A	HP:0012735	Cough	HP:0040283	ORPHA:171876
6337	SCNN1A	HP:0004469	Chronic bronchitis	-	OMIM:613021
6337	SCNN1A	HP:0000859	Increased circulating aldosterone concentration	10/10	OMIM:264350
6337	SCNN1A	HP:0000848	Increased circulating renin concentration	HP:0040281	ORPHA:171876
6337	SCNN1A	HP:0000841	Hyperactive renin-angiotensin system	-	OMIM:264350
6337	SCNN1A	HP:0000822	Hypertension	2/2	OMIM:618126
6337	SCNN1A	HP:0000822	Hypertension	HP:0040281	ORPHA:526
6337	SCNN1A	HP:0040085	Abnormal circulating aldosterone concentration	HP:0040281	ORPHA:171876
6337	SCNN1A	HP:0030877	Reduced FEV1/FVC ratio	HP:0040282	ORPHA:60033
6337	SCNN1A	HP:0030828	Wheezing	HP:0040282	ORPHA:60033
6337	SCNN1A	HP:0030828	Wheezing	HP:0040283	ORPHA:171876
6337	SCNN1A	HP:0030830	Crackles	HP:0040282	ORPHA:60033
6337	SCNN1A	HP:0011675	Arrhythmia	HP:0040283	ORPHA:171876
6337	SCNN1A	HP:0011675	Arrhythmia	HP:0040281	ORPHA:526
6337	SCNN1A	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
6337	SCNN1A	HP:0012236	Elevated sweat chloride	1/1	OMIM:613021
6337	SCNN1A	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:171876
6337	SCNN1A	HP:0001508	Failure to thrive	-	OMIM:264350
6337	SCNN1A	HP:0012378	Fatigue	HP:0040282	ORPHA:526
6337	SCNN1A	HP:0002902	Hyponatremia	HP:0040281	ORPHA:171876
6337	SCNN1A	HP:0002902	Hyponatremia	10/10	OMIM:264350
6337	SCNN1A	HP:0002900	Hypokalemia	2/2	OMIM:618126
6337	SCNN1A	HP:0002900	Hypokalemia	HP:0040281	ORPHA:526
6337	SCNN1A	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
6337	SCNN1A	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
6337	SCNN1A	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
6337	SCNN1A	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:60033
6337	SCNN1A	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040282	ORPHA:60033
6337	SCNN1A	HP:0011110	Recurrent tonsillitis	HP:0040283	ORPHA:171876
6337	SCNN1A	HP:0001824	Weight loss	HP:0040283	ORPHA:171876
6338	SCNN1B	HP:0100812	Halitosis	HP:0040283	ORPHA:60033
6338	SCNN1B	HP:0001217	Clubbing	HP:0040284	ORPHA:60033
6338	SCNN1B	HP:0000083	Renal insufficiency	1/3	OMIM:177200
6338	SCNN1B	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:526
6338	SCNN1B	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:171876
6338	SCNN1B	HP:0012092	Abnormality of exocrine pancreas physiology	0/2	OMIM:211400
6338	SCNN1B	HP:0001324	Muscle weakness	HP:0040282	ORPHA:526
6338	SCNN1B	HP:0000007	Autosomal recessive inheritance	-	OMIM:620125
6338	SCNN1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:211400
6338	SCNN1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:177200
6338	SCNN1B	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:526
6338	SCNN1B	HP:0002615	Hypotension	-	OMIM:620125
6338	SCNN1B	HP:0031274	Hypovolemic shock	HP:0040282	ORPHA:171876
6338	SCNN1B	HP:0002783	Recurrent lower respiratory tract infections	HP:0040282	ORPHA:60033
6338	SCNN1B	HP:0002795	Abnormal respiratory system physiology	HP:0040281	ORPHA:60033
6338	SCNN1B	HP:0002754	Osteomyelitis	HP:0040283	ORPHA:171876
6338	SCNN1B	HP:0000112	Nephropathy	HP:0040282	ORPHA:526
6338	SCNN1B	HP:0031245	Productive cough	HP:0040281	ORPHA:60033
6338	SCNN1B	HP:0003351	Decreased circulating renin concentration	3/3	OMIM:177200
6338	SCNN1B	HP:0002019	Constipation	HP:0040281	ORPHA:526
6338	SCNN1B	HP:0002013	Vomiting	HP:0040282	ORPHA:171876
6338	SCNN1B	HP:0002097	Emphysema	HP:0040283	ORPHA:60033
6338	SCNN1B	HP:0002094	Dyspnea	HP:0040282	ORPHA:60033
6338	SCNN1B	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	HP:0040281	ORPHA:171876
6338	SCNN1B	HP:0002153	Hyperkalemia	HP:0040281	ORPHA:171876
6338	SCNN1B	HP:0002153	Hyperkalemia	-	OMIM:620125
6338	SCNN1B	HP:0002110	Bronchiectasis	-	OMIM:211400
6338	SCNN1B	HP:0002110	Bronchiectasis	HP:0040280	ORPHA:60033
6338	SCNN1B	HP:0002105	Hemoptysis	HP:0040282	ORPHA:60033
6338	SCNN1B	HP:0200117	Recurrent upper and lower respiratory tract infections	HP:0040282	ORPHA:171876
6338	SCNN1B	HP:0100749	Chest pain	HP:0040282	ORPHA:60033
6338	SCNN1B	HP:0011947	Respiratory tract infection	HP:0040281	ORPHA:60033
6338	SCNN1B	HP:0011949	Acute infectious pneumonia	HP:0040283	ORPHA:60033
6338	SCNN1B	HP:0003508	Proportionate short stature	HP:0040283	ORPHA:171876
6338	SCNN1B	HP:0001047	Atopic dermatitis	HP:0040283	ORPHA:171876
6338	SCNN1B	HP:0200039	Pustule	HP:0040283	ORPHA:171876
6338	SCNN1B	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:171876
6338	SCNN1B	HP:0003623	Neonatal onset	-	OMIM:620125
6338	SCNN1B	HP:0003621	Juvenile onset	1/3	OMIM:177200
6338	SCNN1B	HP:0001949	Hypokalemic alkalosis	3/3	OMIM:177200
6338	SCNN1B	HP:0001944	Dehydration	HP:0040282	ORPHA:171876
6338	SCNN1B	HP:0001944	Dehydration	-	OMIM:620125
6338	SCNN1B	HP:0001945	Fever	HP:0040283	ORPHA:60033
6338	SCNN1B	HP:0001942	Metabolic acidosis	HP:0040281	ORPHA:171876
6338	SCNN1B	HP:0001942	Metabolic acidosis	-	OMIM:620125
6338	SCNN1B	HP:0004319	Decreased circulating aldosterone concentration	3/3	OMIM:177200
6338	SCNN1B	HP:0004326	Cachexia	HP:0040283	ORPHA:60033
6338	SCNN1B	HP:0012735	Cough	HP:0040283	ORPHA:171876
6338	SCNN1B	HP:0011463	Childhood onset	2/3	OMIM:177200
6338	SCNN1B	HP:0004469	Chronic bronchitis	-	OMIM:211400
6338	SCNN1B	HP:0000859	Increased circulating aldosterone concentration	-	OMIM:620125
6338	SCNN1B	HP:0000848	Increased circulating renin concentration	-	OMIM:620125
6338	SCNN1B	HP:0000848	Increased circulating renin concentration	HP:0040281	ORPHA:171876
6338	SCNN1B	HP:0000822	Hypertension	3/3	OMIM:177200
6338	SCNN1B	HP:0000822	Hypertension	HP:0040281	ORPHA:526
6338	SCNN1B	HP:0040085	Abnormal circulating aldosterone concentration	HP:0040281	ORPHA:171876
6338	SCNN1B	HP:0030877	Reduced FEV1/FVC ratio	HP:0040282	ORPHA:60033
6338	SCNN1B	HP:0030828	Wheezing	HP:0040282	ORPHA:60033
6338	SCNN1B	HP:0030828	Wheezing	HP:0040283	ORPHA:171876
6338	SCNN1B	HP:0030830	Crackles	HP:0040282	ORPHA:60033
6338	SCNN1B	HP:0011675	Arrhythmia	HP:0040283	ORPHA:171876
6338	SCNN1B	HP:0011675	Arrhythmia	HP:0040281	ORPHA:526
6338	SCNN1B	HP:0012236	Elevated sweat chloride	HP:0040283	OMIM:211400
6338	SCNN1B	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:171876
6338	SCNN1B	HP:0012378	Fatigue	HP:0040282	ORPHA:526
6338	SCNN1B	HP:0002902	Hyponatremia	HP:0040281	ORPHA:171876
6338	SCNN1B	HP:0002902	Hyponatremia	-	OMIM:620125
6338	SCNN1B	HP:0002900	Hypokalemia	3/3	OMIM:177200
6338	SCNN1B	HP:0002900	Hypokalemia	HP:0040281	ORPHA:526
6338	SCNN1B	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:60033
6338	SCNN1B	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040282	ORPHA:60033
6338	SCNN1B	HP:0011110	Recurrent tonsillitis	HP:0040283	ORPHA:171876
6338	SCNN1B	HP:0001824	Weight loss	HP:0040283	ORPHA:171876
6340	SCNN1G	HP:0100812	Halitosis	HP:0040283	ORPHA:60033
6340	SCNN1G	HP:0001217	Clubbing	HP:0040284	ORPHA:60033
6340	SCNN1G	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:526
6340	SCNN1G	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:171876
6340	SCNN1G	HP:0001324	Muscle weakness	HP:0040282	ORPHA:526
6340	SCNN1G	HP:0000007	Autosomal recessive inheritance	-	OMIM:620126
6340	SCNN1G	HP:0000006	Autosomal dominant inheritance	-	OMIM:618114
6340	SCNN1G	HP:0000006	Autosomal dominant inheritance	-	OMIM:613071
6340	SCNN1G	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:526
6340	SCNN1G	HP:0031274	Hypovolemic shock	HP:0040282	ORPHA:171876
6340	SCNN1G	HP:0002783	Recurrent lower respiratory tract infections	HP:0040282	ORPHA:60033
6340	SCNN1G	HP:0002795	Abnormal respiratory system physiology	HP:0040281	ORPHA:60033
6340	SCNN1G	HP:0002754	Osteomyelitis	HP:0040283	ORPHA:171876
6340	SCNN1G	HP:0000112	Nephropathy	HP:0040282	ORPHA:526
6340	SCNN1G	HP:0031245	Productive cough	HP:0040281	ORPHA:60033
6340	SCNN1G	HP:0003351	Decreased circulating renin concentration	7/7	OMIM:618114
6340	SCNN1G	HP:0002019	Constipation	HP:0040281	ORPHA:526
6340	SCNN1G	HP:0002013	Vomiting	HP:0040282	ORPHA:171876
6340	SCNN1G	HP:0002013	Vomiting	1/1	OMIM:620126
6340	SCNN1G	HP:0002097	Emphysema	HP:0040283	ORPHA:60033
6340	SCNN1G	HP:0002094	Dyspnea	HP:0040282	ORPHA:60033
6340	SCNN1G	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	HP:0040281	ORPHA:171876
6340	SCNN1G	HP:0002153	Hyperkalemia	HP:0040281	ORPHA:171876
6340	SCNN1G	HP:0002153	Hyperkalemia	1/1	OMIM:620126
6340	SCNN1G	HP:0002110	Bronchiectasis	-	OMIM:613071
6340	SCNN1G	HP:0002110	Bronchiectasis	HP:0040280	ORPHA:60033
6340	SCNN1G	HP:0002105	Hemoptysis	HP:0040282	ORPHA:60033
6340	SCNN1G	HP:0200114	Metabolic alkalosis	1/1	OMIM:618114
6340	SCNN1G	HP:0200117	Recurrent upper and lower respiratory tract infections	HP:0040282	ORPHA:171876
6340	SCNN1G	HP:0100749	Chest pain	HP:0040282	ORPHA:60033
6340	SCNN1G	HP:0011947	Respiratory tract infection	HP:0040281	ORPHA:60033
6340	SCNN1G	HP:0011949	Acute infectious pneumonia	HP:0040283	ORPHA:60033
6340	SCNN1G	HP:0003508	Proportionate short stature	HP:0040283	ORPHA:171876
6340	SCNN1G	HP:0001047	Atopic dermatitis	HP:0040283	ORPHA:171876
6340	SCNN1G	HP:0200039	Pustule	HP:0040283	ORPHA:171876
6340	SCNN1G	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:171876
6340	SCNN1G	HP:0003623	Neonatal onset	1/1	OMIM:620126
6340	SCNN1G	HP:0003621	Juvenile onset	3/7	OMIM:618114
6340	SCNN1G	HP:0001944	Dehydration	HP:0040282	ORPHA:171876
6340	SCNN1G	HP:0001944	Dehydration	1/1	OMIM:620126
6340	SCNN1G	HP:0001945	Fever	HP:0040283	ORPHA:60033
6340	SCNN1G	HP:0001942	Metabolic acidosis	HP:0040281	ORPHA:171876
6340	SCNN1G	HP:0001942	Metabolic acidosis	1/1	OMIM:620126
6340	SCNN1G	HP:0004319	Decreased circulating aldosterone concentration	2/7	OMIM:618114
6340	SCNN1G	HP:0004326	Cachexia	HP:0040283	ORPHA:60033
6340	SCNN1G	HP:0012735	Cough	HP:0040283	ORPHA:171876
6340	SCNN1G	HP:0011462	Young adult onset	4/6	OMIM:618114
6340	SCNN1G	HP:0004469	Chronic bronchitis	-	OMIM:613071
6340	SCNN1G	HP:0000859	Increased circulating aldosterone concentration	1/1	OMIM:620126
6340	SCNN1G	HP:0000848	Increased circulating renin concentration	1/1	OMIM:620126
6340	SCNN1G	HP:0000848	Increased circulating renin concentration	HP:0040281	ORPHA:171876
6340	SCNN1G	HP:0000822	Hypertension	7/7	OMIM:618114
6340	SCNN1G	HP:0000822	Hypertension	HP:0040281	ORPHA:526
6340	SCNN1G	HP:0040085	Abnormal circulating aldosterone concentration	HP:0040281	ORPHA:171876
6340	SCNN1G	HP:0030877	Reduced FEV1/FVC ratio	HP:0040282	ORPHA:60033
6340	SCNN1G	HP:0030828	Wheezing	HP:0040282	ORPHA:60033
6340	SCNN1G	HP:0030828	Wheezing	HP:0040283	ORPHA:171876
6340	SCNN1G	HP:0030830	Crackles	HP:0040282	ORPHA:60033
6340	SCNN1G	HP:0011675	Arrhythmia	HP:0040283	ORPHA:171876
6340	SCNN1G	HP:0011675	Arrhythmia	HP:0040281	ORPHA:526
6340	SCNN1G	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:171876
6340	SCNN1G	HP:0012378	Fatigue	HP:0040282	ORPHA:526
6340	SCNN1G	HP:0002902	Hyponatremia	HP:0040281	ORPHA:171876
6340	SCNN1G	HP:0002902	Hyponatremia	1/1	OMIM:620126
6340	SCNN1G	HP:0002900	Hypokalemia	7/7	OMIM:618114
6340	SCNN1G	HP:0002900	Hypokalemia	HP:0040281	ORPHA:526
6340	SCNN1G	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:60033
6340	SCNN1G	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040282	ORPHA:60033
6340	SCNN1G	HP:0011110	Recurrent tonsillitis	HP:0040283	ORPHA:171876
6340	SCNN1G	HP:0001824	Weight loss	HP:0040283	ORPHA:171876
6341	SCO1	HP:0002490	Increased CSF lactate	-	OMIM:220110
6341	SCO1	HP:0001290	Generalized hypotonia	11/11	OMIM:220110
6341	SCO1	HP:0001290	Generalized hypotonia	1/1	OMIM:619048
6341	SCO1	HP:0001270	Motor delay	-	OMIM:220110
6341	SCO1	HP:0001250	Seizure	-	OMIM:220110
6341	SCO1	HP:0001252	Hypotonia	2/2	OMIM:220110
6341	SCO1	HP:0001251	Ataxia	2/2	OMIM:220110
6341	SCO1	HP:0001249	Intellectual disability	-	OMIM:220110
6341	SCO1	HP:0001263	Global developmental delay	-	OMIM:220110
6341	SCO1	HP:0003819	Death in childhood	2/2	OMIM:220110
6341	SCO1	HP:0000093	Proteinuria	-	OMIM:220110
6341	SCO1	HP:0001397	Hepatic steatosis	1/1	OMIM:619048
6341	SCO1	HP:0001348	Brisk reflexes	11/11	OMIM:220110
6341	SCO1	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:619048
6341	SCO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619048
6341	SCO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:220110
6341	SCO1	HP:0008936	Axial hypotonia	1/1	OMIM:619048
6341	SCO1	HP:0000124	Renal tubular dysfunction	-	OMIM:220110
6341	SCO1	HP:0001427	Mitochondrial inheritance	-	OMIM:220110
6341	SCO1	HP:0001410	Decreased liver function	-	OMIM:220110
6341	SCO1	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:220110
6341	SCO1	HP:0003355	Aminoaciduria	-	OMIM:220110
6341	SCO1	HP:0003348	Hyperalaninemia	1/1	OMIM:619048
6341	SCO1	HP:0002098	Respiratory distress	-	OMIM:220110
6341	SCO1	HP:0002078	Truncal ataxia	11/11	OMIM:220110
6341	SCO1	HP:0002151	Increased circulating lactate concentration	-	OMIM:220110
6341	SCO1	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:619048
6341	SCO1	HP:0002104	Apnea	1/1	OMIM:619048
6341	SCO1	HP:0003593	Infantile onset	2/2	OMIM:220110
6341	SCO1	HP:0002240	Hepatomegaly	-	OMIM:220110
6341	SCO1	HP:0002240	Hepatomegaly	1/1	OMIM:619048
6341	SCO1	HP:0003546	Exercise intolerance	-	OMIM:220110
6341	SCO1	HP:0008315	Decreased plasma free carnitine	1/1	OMIM:619048
6341	SCO1	HP:0003688	Cytochrome C oxidase-negative muscle fibers	15/15	OMIM:220110
6341	SCO1	HP:0002376	Developmental regression	13/13	OMIM:220110
6341	SCO1	HP:0002352	Leukoencephalopathy	-	OMIM:220110
6341	SCO1	HP:0000648	Optic atrophy	2/2	OMIM:220110
6341	SCO1	HP:0001943	Hypoglycemia	1/1	OMIM:619048
6341	SCO1	HP:0001942	Metabolic acidosis	1/1	OMIM:619048
6341	SCO1	HP:0001903	Anemia	-	OMIM:220110
6341	SCO1	HP:0001994	Renal Fanconi syndrome	-	OMIM:220110
6341	SCO1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:619048
6341	SCO1	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:619048
6341	SCO1	HP:0003076	Glycosuria	-	OMIM:220110
6341	SCO1	HP:0003109	Hyperphosphaturia	-	OMIM:220110
6341	SCO1	HP:0003128	Lactic acidosis	13/13	OMIM:220110
6341	SCO1	HP:0033092	Increased urine succinate level	1/1	OMIM:619048
6341	SCO1	HP:0012240	Increased intramyocellular lipid droplets	-	OMIM:220110
6341	SCO1	HP:0002878	Respiratory failure	2/2	OMIM:220110
6341	SCO1	HP:0000218	High palate	-	OMIM:220110
6341	SCO1	HP:0002875	Exertional dyspnea	-	OMIM:220110
6341	SCO1	HP:0001508	Failure to thrive	2/2	OMIM:220110
6341	SCO1	HP:0001508	Failure to thrive	1/1	OMIM:619048
6341	SCO1	HP:0001511	Intrauterine growth retardation	1/1	OMIM:619048
6341	SCO1	HP:0006565	Increased hepatocellular lipid droplets	-	OMIM:220110
6341	SCO1	HP:0001662	Bradycardia	1/1	OMIM:619048
6341	SCO1	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:220110
6341	SCO1	HP:0001635	Congestive heart failure	1/1	OMIM:619048
6341	SCO1	HP:0030319	Weakness of facial musculature	-	OMIM:220110
6341	SCO1	HP:0000407	Sensorineural hearing impairment	-	OMIM:220110
6341	SCO1	HP:0001712	Left ventricular hypertrophy	1/1	OMIM:619048
6341	SCO1	HP:0001714	Ventricular hypertrophy	1/1	OMIM:619048
6341	SCO1	HP:0012444	Brain atrophy	1/1	OMIM:619048
6341	SCO1	HP:0000508	Ptosis	-	OMIM:220110
6341	SCO1	HP:0000597	Ophthalmoparesis	2/2	OMIM:220110
6341	SCO1	HP:0000580	Pigmentary retinopathy	-	OMIM:220110
6342	SCP2	HP:0002495	Impaired vibratory sensation	1/1	OMIM:613724
6342	SCP2	HP:0000027	Azoospermia	1/1	OMIM:613724
6342	SCP2	HP:0001332	Dystonia	1/1	OMIM:613724
6342	SCP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613724
6342	SCP2	HP:0002080	Intention tremor	1/1	OMIM:613724
6342	SCP2	HP:0003431	Decreased motor nerve conduction velocity	1/1	OMIM:613724
6342	SCP2	HP:0002352	Leukoencephalopathy	1/1	OMIM:613724
6342	SCP2	HP:0002346	Head tremor	1/1	OMIM:613724
6342	SCP2	HP:0009830	Peripheral neuropathy	1/1	OMIM:613724
6342	SCP2	HP:0003621	Juvenile onset	1/1	OMIM:613724
6342	SCP2	HP:0034721	Elevated circulating pristanic acid concentration	1/1	OMIM:613724
6342	SCP2	HP:0012692	Focal T2 hyperintense thalamic lesion	1/1	OMIM:613724
6342	SCP2	HP:0004409	Hyposmia	1/1	OMIM:613724
6342	SCP2	HP:0000815	Hypergonadotropic hypogonadism	1/1	OMIM:613724
6342	SCP2	HP:0000365	Hearing impairment	1/1	OMIM:613724
6342	SCP2	HP:0000473	Torticollis	1/1	OMIM:613724
6342	SCP2	HP:0000514	Slow saccadic eye movements	1/1	OMIM:613724
6356	CCL11	HP:0000006	Autosomal dominant inheritance	-	OMIM:600807
6356	CCL11	HP:0001426	Non-Mendelian inheritance	-	OMIM:600807
6356	CCL11	HP:0002099	Asthma	-	OMIM:600807
6356	CCL11	HP:4000007	Bronchoconstriction	-	OMIM:600807
6356	CCL11	HP:0032933	Airway hyperresponsiveness	-	OMIM:600807
6389	SDHA	HP:0002474	Expressive language delay	HP:0040283	ORPHA:3208
6389	SDHA	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:29072
6389	SDHA	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
6389	SDHA	HP:0007272	Progressive psychomotor deterioration	HP:0040282	ORPHA:3208
6389	SDHA	HP:0002421	Poor head control	HP:0040284	ORPHA:3208
6389	SDHA	HP:0003756	Skeletal myopathy	HP:0040282	ORPHA:3208
6389	SDHA	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:3208
6389	SDHA	HP:0025269	Panic attack	HP:0040283	ORPHA:29072
6389	SDHA	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:29072
6389	SDHA	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:3208
6389	SDHA	HP:0001272	Cerebellar atrophy	1/2	OMIM:619259
6389	SDHA	HP:0001270	Motor delay	HP:0040282	ORPHA:3208
6389	SDHA	HP:0001288	Gait disturbance	1/3	OMIM:619259
6389	SDHA	HP:0001285	Spastic tetraparesis	HP:0040283	ORPHA:3208
6389	SDHA	HP:0100833	Neoplasm of the small intestine	HP:0040283	ORPHA:44890
6389	SDHA	HP:0001250	Seizure	HP:0040283	ORPHA:3208
6389	SDHA	HP:0001250	Seizure	-	OMIM:252011
6389	SDHA	HP:0001251	Ataxia	1/3	OMIM:619259
6389	SDHA	HP:0001251	Ataxia	HP:0040283	ORPHA:3208
6389	SDHA	HP:0001251	Ataxia	-	OMIM:252011
6389	SDHA	HP:0001263	Global developmental delay	1/1	OMIM:252011
6389	SDHA	HP:0001257	Spasticity	HP:0040282	ORPHA:3208
6389	SDHA	HP:0001257	Spasticity	-	OMIM:252011
6389	SDHA	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:29072
6389	SDHA	HP:0007400	Irregular hyperpigmentation	HP:0040283	ORPHA:44890
6389	SDHA	HP:0007378	Neoplasm of the gastrointestinal tract	HP:0040283	ORPHA:44890
6389	SDHA	HP:0007350	Upper limb hyperreflexia	HP:0040282	ORPHA:3208
6389	SDHA	HP:0002505	Loss of ambulation	HP:0040284	ORPHA:3208
6389	SDHA	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:29072
6389	SDHA	HP:0000093	Proteinuria	HP:0040282	ORPHA:29072
6389	SDHA	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:44890
6389	SDHA	HP:0000076	Vesicoureteral reflux	HP:0040284	ORPHA:3208
6389	SDHA	HP:0001371	Flexion contracture	-	OMIM:252011
6389	SDHA	HP:0001347	Hyperreflexia	-	OMIM:252011
6389	SDHA	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:3208
6389	SDHA	HP:0001332	Dystonia	-	OMIM:252011
6389	SDHA	HP:0001324	Muscle weakness	-	OMIM:252011
6389	SDHA	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:29072
6389	SDHA	HP:0000007	Autosomal recessive inheritance	-	OMIM:252011
6389	SDHA	HP:0000007	Autosomal recessive inheritance	-	OMIM:613642
6389	SDHA	HP:0002668	Paraganglioma	2/2	OMIM:614165
6389	SDHA	HP:0002668	Paraganglioma	HP:0040281	ORPHA:29072
6389	SDHA	HP:0001337	Tremor	HP:0040283	ORPHA:29072
6389	SDHA	HP:0000006	Autosomal dominant inheritance	-	OMIM:619259
6389	SDHA	HP:0000006	Autosomal dominant inheritance	-	OMIM:614165
6389	SDHA	HP:0001336	Myoclonus	-	OMIM:252011
6389	SDHA	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:29072
6389	SDHA	HP:0001319	Neonatal hypotonia	-	OMIM:252011
6389	SDHA	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:3208
6389	SDHA	HP:0031284	Flushing	HP:0040282	ORPHA:29072
6389	SDHA	HP:0002018	Nausea	HP:0040282	ORPHA:29072
6389	SDHA	HP:0002019	Constipation	HP:0040282	ORPHA:44890
6389	SDHA	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:44890
6389	SDHA	HP:0003326	Myalgia	1/2	OMIM:619259
6389	SDHA	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:29072
6389	SDHA	HP:0002015	Dysphagia	HP:0040282	ORPHA:44890
6389	SDHA	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:3208
6389	SDHA	HP:0100543	Cognitive impairment	-	OMIM:252011
6389	SDHA	HP:0002098	Respiratory distress	14/15	OMIM:613642
6389	SDHA	HP:0002066	Gait ataxia	2/2	OMIM:619259
6389	SDHA	HP:0002078	Truncal ataxia	1/2	OMIM:619259
6389	SDHA	HP:0002078	Truncal ataxia	1/1	OMIM:252011
6389	SDHA	HP:0002070	Limb ataxia	1/2	OMIM:619259
6389	SDHA	HP:0003388	Easy fatigability	HP:0040282	ORPHA:3208
6389	SDHA	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
6389	SDHA	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:29072
6389	SDHA	HP:0003487	Babinski sign	1/3	OMIM:619259
6389	SDHA	HP:0003487	Babinski sign	HP:0040282	ORPHA:3208
6389	SDHA	HP:0003487	Babinski sign	-	OMIM:252011
6389	SDHA	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:252011
6389	SDHA	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:3208
6389	SDHA	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
6389	SDHA	HP:0002172	Postural instability	1/2	OMIM:619259
6389	SDHA	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:29072
6389	SDHA	HP:0003596	Middle age onset	2/2	OMIM:619259
6389	SDHA	HP:0003593	Infantile onset	12/15	OMIM:613642
6389	SDHA	HP:0003593	Infantile onset	1/1	OMIM:252011
6389	SDHA	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:29072
6389	SDHA	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:44890
6389	SDHA	HP:0003546	Exercise intolerance	-	OMIM:252011
6389	SDHA	HP:0004897	Stress/infection-induced lactic acidosis	-	OMIM:252011
6389	SDHA	HP:0003528	Elevated circulating calcitonin concentration	HP:0040283	ORPHA:29072
6389	SDHA	HP:0003535	3-Methylglutaconic aciduria	2/2	OMIM:619259
6389	SDHA	HP:0009711	Retinal capillary hemangioma	HP:0040283	ORPHA:29072
6389	SDHA	HP:0100723	Gastrointestinal stroma tumor	HP:0040281	ORPHA:44890
6389	SDHA	HP:0100751	Esophageal neoplasm	HP:0040283	ORPHA:44890
6389	SDHA	HP:0100743	Neoplasm of the rectum	HP:0040283	ORPHA:44890
6389	SDHA	HP:0100749	Chest pain	HP:0040282	ORPHA:29072
6389	SDHA	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:29072
6389	SDHA	HP:0008314	Decreased activity of mitochondrial complex II	3/3	OMIM:613642
6389	SDHA	HP:0008314	Decreased activity of mitochondrial complex II	3/3	OMIM:252011
6389	SDHA	HP:0008316	Abnormal mitochondria in muscle tissue	-	OMIM:252011
6389	SDHA	HP:0003510	Severe short stature	HP:0040282	ORPHA:3208
6389	SDHA	HP:0003508	Proportionate short stature	HP:0040282	ORPHA:3208
6389	SDHA	HP:0007083	Hyperactive patellar reflex	HP:0040282	ORPHA:3208
6389	SDHA	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:29072
6389	SDHA	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:3208
6389	SDHA	HP:0003690	Limb muscle weakness	2/2	OMIM:619259
6389	SDHA	HP:0002359	Frequent falls	HP:0040283	ORPHA:3208
6389	SDHA	HP:0002376	Developmental regression	HP:0040282	ORPHA:3208
6389	SDHA	HP:0002376	Developmental regression	1/1	OMIM:252011
6389	SDHA	HP:0002352	Leukoencephalopathy	-	OMIM:252011
6389	SDHA	HP:0002321	Vertigo	2/2	OMIM:619259
6389	SDHA	HP:0002317	Unsteady gait	2/2	OMIM:619259
6389	SDHA	HP:0002315	Headache	2/2	OMIM:619259
6389	SDHA	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:3208
6389	SDHA	HP:0002333	Motor deterioration	HP:0040282	ORPHA:3208
6389	SDHA	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:29072
6389	SDHA	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:29072
6389	SDHA	HP:0002312	Clumsiness	1/3	OMIM:619259
6389	SDHA	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:29072
6389	SDHA	HP:0006801	Hyperactive deep tendon reflexes	HP:0040282	ORPHA:3208
6389	SDHA	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:29072
6389	SDHA	HP:0006895	Lower limb hypertonia	HP:0040283	ORPHA:3208
6389	SDHA	HP:0000640	Gaze-evoked nystagmus	1/2	OMIM:619259
6389	SDHA	HP:0000639	Nystagmus	1/3	OMIM:619259
6389	SDHA	HP:0000639	Nystagmus	HP:0040284	ORPHA:3208
6389	SDHA	HP:0000639	Nystagmus	-	OMIM:252011
6389	SDHA	HP:0001962	Palpitations	HP:0040282	ORPHA:29072
6389	SDHA	HP:0000651	Diplopia	2/2	OMIM:619259
6389	SDHA	HP:0000648	Optic atrophy	4/4	OMIM:619259
6389	SDHA	HP:0000648	Optic atrophy	-	OMIM:252011
6389	SDHA	HP:0000618	Blindness	HP:0040284	ORPHA:3208
6389	SDHA	HP:0000602	Ophthalmoplegia	-	OMIM:252011
6389	SDHA	HP:0001903	Anemia	HP:0040283	ORPHA:44890
6389	SDHA	HP:0012664	Reduced left ventricular ejection fraction	15/15	OMIM:613642
6389	SDHA	HP:0011343	Moderate global developmental delay	HP:0040283	ORPHA:3208
6389	SDHA	HP:0004322	Short stature	-	OMIM:252011
6389	SDHA	HP:0006980	Progressive leukoencephalopathy	-	OMIM:252011
6389	SDHA	HP:0030682	Left ventricular noncompaction	7/15	OMIM:613642
6389	SDHA	HP:0030682	Left ventricular noncompaction	-	OMIM:252011
6389	SDHA	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:29072
6389	SDHA	HP:0034197	Third trimester onset	3/15	OMIM:613642
6389	SDHA	HP:0000737	Irritability	HP:0040283	ORPHA:3208
6389	SDHA	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:29072
6389	SDHA	HP:0000716	Depression	1/3	OMIM:619259
6389	SDHA	HP:0000726	Dementia	HP:0040284	ORPHA:3208
6389	SDHA	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
6389	SDHA	HP:0000790	Hematuria	HP:0040283	ORPHA:29072
6389	SDHA	HP:0003198	Myopathy	HP:0040283	ORPHA:154
6389	SDHA	HP:0012817	Noncompaction cardiomyopathy	HP:0040283	ORPHA:3208
6389	SDHA	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:3208
6389	SDHA	HP:0003200	Ragged-red muscle fibers	-	OMIM:252011
6389	SDHA	HP:0000980	Pallor	HP:0040283	ORPHA:29072
6389	SDHA	HP:0100273	Neoplasm of the colon	HP:0040283	ORPHA:44890
6389	SDHA	HP:0000988	Skin rash	HP:0040283	ORPHA:44890
6389	SDHA	HP:0000969	Edema	HP:0040282	ORPHA:154
6389	SDHA	HP:0100242	Sarcoma	HP:0040281	ORPHA:44890
6389	SDHA	HP:0040196	Mild microcephaly	HP:0040283	ORPHA:3208
6389	SDHA	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
6389	SDHA	HP:0012240	Increased intramyocellular lipid droplets	-	OMIM:252011
6389	SDHA	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:3208
6389	SDHA	HP:0012222	Arachnoid hemangiomatosis	HP:0040283	ORPHA:29072
6389	SDHA	HP:0032653	Elevated lactate:pyruvate ratio	1/1	OMIM:252011
6389	SDHA	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
6389	SDHA	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:29072
6389	SDHA	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:3208
6389	SDHA	HP:0012378	Fatigue	HP:0040282	ORPHA:154
6389	SDHA	HP:0012378	Fatigue	HP:0040282	ORPHA:29072
6389	SDHA	HP:0012378	Fatigue	1/3	OMIM:619259
6389	SDHA	HP:0012378	Fatigue	HP:0040282	ORPHA:44890
6389	SDHA	HP:0006568	Increased hepatic glycogen content	1/1	OMIM:619259
6389	SDHA	HP:0005214	Intestinal obstruction	HP:0040282	ORPHA:44890
6389	SDHA	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:29072
6389	SDHA	HP:0001618	Dysphonia	HP:0040282	ORPHA:29072
6389	SDHA	HP:0005150	Abnormal atrioventricular conduction	HP:0040283	ORPHA:3208
6389	SDHA	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:3208
6389	SDHA	HP:0001686	Loss of voice	1/2	OMIM:619259
6389	SDHA	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
6389	SDHA	HP:0001644	Dilated cardiomyopathy	15/15	OMIM:613642
6389	SDHA	HP:0001644	Dilated cardiomyopathy	-	OMIM:252011
6389	SDHA	HP:0030149	Cardiogenic shock	4/15	OMIM:613642
6389	SDHA	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:3208
6389	SDHA	HP:0001640	Cardiomegaly	3/3	OMIM:619259
6389	SDHA	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:3208
6389	SDHA	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:252011
6389	SDHA	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
6389	SDHA	HP:0001635	Congestive heart failure	11/15	OMIM:613642
6389	SDHA	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:29072
6389	SDHA	HP:0001635	Congestive heart failure	1/3	OMIM:619259
6389	SDHA	HP:0001638	Cardiomyopathy	3/3	OMIM:619259
6389	SDHA	HP:0011166	Focal myoclonic seizure	HP:0040283	ORPHA:3208
6389	SDHA	HP:0007994	Peripheral visual field loss	2/2	OMIM:619259
6389	SDHA	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
6389	SDHA	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
6389	SDHA	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:29072
6389	SDHA	HP:0001712	Left ventricular hypertrophy	HP:0040282	ORPHA:3208
6389	SDHA	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:3208
6389	SDHA	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:29072
6389	SDHA	HP:0006753	Neoplasm of the stomach	HP:0040281	ORPHA:44890
6389	SDHA	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:29072
6389	SDHA	HP:0000526	Aniridia	HP:0040284	ORPHA:29072
6389	SDHA	HP:0001824	Weight loss	HP:0040282	ORPHA:29072
6389	SDHA	HP:0001824	Weight loss	HP:0040282	ORPHA:3208
6389	SDHA	HP:0000508	Ptosis	-	OMIM:252011
6389	SDHA	HP:0000505	Visual impairment	2/2	OMIM:619259
6389	SDHA	HP:0000505	Visual impairment	-	OMIM:252011
6389	SDHA	HP:0000580	Pigmentary retinopathy	HP:0040284	ORPHA:3208
6389	SDHA	HP:0000580	Pigmentary retinopathy	-	OMIM:252011
6389	SDHA	HP:0012534	Dysesthesia	1/2	OMIM:619259
6389	SDHA	HP:0000544	External ophthalmoplegia	HP:0040284	ORPHA:3208
6390	SDHB	HP:0001176	Large hands	-	OMIM:606764
6390	SDHB	HP:0001156	Brachydactyly	HP:0040283	ORPHA:201
6390	SDHB	HP:0002474	Expressive language delay	HP:0040283	ORPHA:3208
6390	SDHB	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:29072
6390	SDHB	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:276621
6390	SDHB	HP:0008629	Pulsatile tinnitus	-	OMIM:115310
6390	SDHB	HP:0007272	Progressive psychomotor deterioration	HP:0040282	ORPHA:3208
6390	SDHB	HP:0002421	Poor head control	1/1	OMIM:619224
6390	SDHB	HP:0002421	Poor head control	HP:0040284	ORPHA:3208
6390	SDHB	HP:0003745	Sporadic	-	OMIM:606764
6390	SDHB	HP:0002415	Leukodystrophy	1/1	OMIM:619224
6390	SDHB	HP:0003756	Skeletal myopathy	HP:0040282	ORPHA:3208
6390	SDHB	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:3208
6390	SDHB	HP:0025269	Panic attack	HP:0040283	ORPHA:29072
6390	SDHB	HP:0025269	Panic attack	HP:0040283	ORPHA:276621
6390	SDHB	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:29072
6390	SDHB	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:276621
6390	SDHB	HP:0001290	Generalized hypotonia	1/1	OMIM:619224
6390	SDHB	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:3208
6390	SDHB	HP:0001270	Motor delay	HP:0040282	ORPHA:3208
6390	SDHB	HP:0001285	Spastic tetraparesis	HP:0040283	ORPHA:3208
6390	SDHB	HP:0100833	Neoplasm of the small intestine	HP:0040283	ORPHA:44890
6390	SDHB	HP:0001250	Seizure	HP:0040283	ORPHA:3208
6390	SDHB	HP:0001250	Seizure	HP:0040283	ORPHA:201
6390	SDHB	HP:0001252	Hypotonia	1/1	OMIM:619224
6390	SDHB	HP:0001251	Ataxia	2/3	OMIM:619224
6390	SDHB	HP:0001251	Ataxia	HP:0040283	ORPHA:3208
6390	SDHB	HP:0001251	Ataxia	HP:0040282	ORPHA:201
6390	SDHB	HP:0001249	Intellectual disability	HP:0040282	ORPHA:201
6390	SDHB	HP:0001263	Global developmental delay	HP:0040282	ORPHA:201
6390	SDHB	HP:0001257	Spasticity	4/5	OMIM:619224
6390	SDHB	HP:0001257	Spasticity	HP:0040282	ORPHA:3208
6390	SDHB	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:29072
6390	SDHB	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:276621
6390	SDHB	HP:0007400	Irregular hyperpigmentation	HP:0040283	ORPHA:44890
6390	SDHB	HP:0007378	Neoplasm of the gastrointestinal tract	-	OMIM:606864
6390	SDHB	HP:0007378	Neoplasm of the gastrointestinal tract	HP:0040283	ORPHA:44890
6390	SDHB	HP:0007350	Upper limb hyperreflexia	HP:0040282	ORPHA:3208
6390	SDHB	HP:0008675	Enlarged polycystic ovaries	HP:0040283	ORPHA:201
6390	SDHB	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:201
6390	SDHB	HP:0002527	Falls	1/1	OMIM:619224
6390	SDHB	HP:0003829	Typified by incomplete penetrance	-	OMIM:115310
6390	SDHB	HP:0002505	Loss of ambulation	HP:0040284	ORPHA:3208
6390	SDHB	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:29072
6390	SDHB	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:276621
6390	SDHB	HP:0000093	Proteinuria	HP:0040282	ORPHA:276621
6390	SDHB	HP:0000093	Proteinuria	HP:0040282	ORPHA:29072
6390	SDHB	HP:0012062	Bone cyst	HP:0040283	ORPHA:201
6390	SDHB	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:44890
6390	SDHB	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:201
6390	SDHB	HP:0000076	Vesicoureteral reflux	HP:0040284	ORPHA:3208
6390	SDHB	HP:0001371	Flexion contracture	1/1	OMIM:619224
6390	SDHB	HP:0012032	Lipoma	HP:0040282	ORPHA:201
6390	SDHB	HP:0025336	Delayed ability to sit	1/5	OMIM:619224
6390	SDHB	HP:0000036	Abnormal penis morphology	HP:0040282	ORPHA:201
6390	SDHB	HP:0025335	Delayed ability to stand	1/1	OMIM:619224
6390	SDHB	HP:0001347	Hyperreflexia	1/1	OMIM:619224
6390	SDHB	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:201
6390	SDHB	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:3208
6390	SDHB	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:619224
6390	SDHB	HP:0002664	Neoplasm	HP:0040282	ORPHA:201
6390	SDHB	HP:0001332	Dystonia	2/5	OMIM:619224
6390	SDHB	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:29072
6390	SDHB	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:276621
6390	SDHB	HP:0000007	Autosomal recessive inheritance	-	OMIM:619224
6390	SDHB	HP:0002668	Paraganglioma	-	OMIM:606864
6390	SDHB	HP:0002668	Paraganglioma	HP:0040281	ORPHA:97286
6390	SDHB	HP:0002668	Paraganglioma	-	OMIM:115310
6390	SDHB	HP:0002668	Paraganglioma	HP:0040281	ORPHA:29072
6390	SDHB	HP:0002668	Paraganglioma	HP:0040281	ORPHA:276621
6390	SDHB	HP:0001337	Tremor	HP:0040283	ORPHA:29072
6390	SDHB	HP:0001337	Tremor	HP:0040283	ORPHA:276621
6390	SDHB	HP:0000006	Autosomal dominant inheritance	-	OMIM:115310
6390	SDHB	HP:0000006	Autosomal dominant inheritance	-	OMIM:606764
6390	SDHB	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:29072
6390	SDHB	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:276621
6390	SDHB	HP:0002640	Hypertension associated with pheochromocytoma	-	OMIM:115310
6390	SDHB	HP:0002650	Scoliosis	HP:0040283	ORPHA:201
6390	SDHB	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:201
6390	SDHB	HP:0000158	Macroglossia	HP:0040282	ORPHA:201
6390	SDHB	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:201
6390	SDHB	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:201
6390	SDHB	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:3208
6390	SDHB	HP:0008936	Axial hypotonia	4/5	OMIM:619224
6390	SDHB	HP:0031284	Flushing	HP:0040282	ORPHA:29072
6390	SDHB	HP:0031284	Flushing	HP:0040282	ORPHA:276621
6390	SDHB	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:201
6390	SDHB	HP:0002018	Nausea	HP:0040282	ORPHA:276621
6390	SDHB	HP:0002018	Nausea	HP:0040282	ORPHA:29072
6390	SDHB	HP:0002019	Constipation	HP:0040282	ORPHA:44890
6390	SDHB	HP:0002019	Constipation	-	OMIM:606764
6390	SDHB	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:44890
6390	SDHB	HP:0002027	Abdominal pain	HP:0040282	ORPHA:97286
6390	SDHB	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:29072
6390	SDHB	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:276621
6390	SDHB	HP:0002015	Dysphagia	HP:0040282	ORPHA:97286
6390	SDHB	HP:0002015	Dysphagia	HP:0040282	ORPHA:44890
6390	SDHB	HP:0002015	Dysphagia	-	OMIM:606764
6390	SDHB	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:3208
6390	SDHB	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:201
6390	SDHB	HP:0003388	Easy fatigability	HP:0040282	ORPHA:3208
6390	SDHB	HP:0100579	Mucosal telangiectasiae	HP:0040282	ORPHA:201
6390	SDHB	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:29072
6390	SDHB	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:276621
6390	SDHB	HP:0003487	Babinski sign	HP:0040282	ORPHA:3208
6390	SDHB	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:619224
6390	SDHB	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:3208
6390	SDHB	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:29072
6390	SDHB	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:276621
6390	SDHB	HP:0003593	Infantile onset	2/5	OMIM:619224
6390	SDHB	HP:0003577	Congenital onset	1/5	OMIM:619224
6390	SDHB	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:29072
6390	SDHB	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:276621
6390	SDHB	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:97286
6390	SDHB	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:44890
6390	SDHB	HP:0003581	Adult onset	9/9	OMIM:115310
6390	SDHB	HP:0003528	Elevated circulating calcitonin concentration	HP:0040283	ORPHA:29072
6390	SDHB	HP:0003542	Increased circulating pyruvate concentration	1/1	OMIM:619224
6390	SDHB	HP:0100780	Conjunctival hamartoma	HP:0040281	ORPHA:201
6390	SDHB	HP:0009720	Adenoma sebaceum	HP:0040282	ORPHA:201
6390	SDHB	HP:0009711	Retinal capillary hemangioma	HP:0040283	ORPHA:29072
6390	SDHB	HP:0100723	Gastrointestinal stroma tumor	-	OMIM:606764
6390	SDHB	HP:0100723	Gastrointestinal stroma tumor	HP:0040281	ORPHA:97286
6390	SDHB	HP:0100723	Gastrointestinal stroma tumor	HP:0040281	ORPHA:44890
6390	SDHB	HP:0100723	Gastrointestinal stroma tumor	HP:0040283	OMIM:115310
6390	SDHB	HP:0100751	Esophageal neoplasm	HP:0040283	ORPHA:44890
6390	SDHB	HP:0100743	Neoplasm of the rectum	HP:0040283	ORPHA:44890
6390	SDHB	HP:0100749	Chest pain	HP:0040282	ORPHA:276621
6390	SDHB	HP:0100749	Chest pain	HP:0040282	ORPHA:29072
6390	SDHB	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:29072
6390	SDHB	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:276621
6390	SDHB	HP:0011976	Elevated urinary catecholamine level	-	OMIM:115310
6390	SDHB	HP:0008314	Decreased activity of mitochondrial complex II	1/1	OMIM:619224
6390	SDHB	HP:0010614	Fibroma	HP:0040282	ORPHA:201
6390	SDHB	HP:0003510	Severe short stature	HP:0040282	ORPHA:3208
6390	SDHB	HP:0003508	Proportionate short stature	HP:0040282	ORPHA:3208
6390	SDHB	HP:0007083	Hyperactive patellar reflex	HP:0040282	ORPHA:3208
6390	SDHB	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:201
6390	SDHB	HP:0001048	Cavernous hemangioma	HP:0040282	ORPHA:201
6390	SDHB	HP:0001067	Neurofibroma	-	OMIM:606764
6390	SDHB	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:29072
6390	SDHB	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:276621
6390	SDHB	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:3208
6390	SDHB	HP:0002359	Frequent falls	HP:0040283	ORPHA:3208
6390	SDHB	HP:0002376	Developmental regression	HP:0040282	ORPHA:3208
6390	SDHB	HP:0002376	Developmental regression	1/1	OMIM:619224
6390	SDHB	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/5	OMIM:619224
6390	SDHB	HP:0001025	Urticaria	-	OMIM:606764
6390	SDHB	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:3208
6390	SDHB	HP:0002333	Motor deterioration	HP:0040282	ORPHA:3208
6390	SDHB	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:29072
6390	SDHB	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:276621
6390	SDHB	HP:0002331	Recurrent paroxysmal headache	-	OMIM:115310
6390	SDHB	HP:0200034	Papule	HP:0040281	ORPHA:201
6390	SDHB	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:29072
6390	SDHB	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:276621
6390	SDHB	HP:0200063	Colorectal polyposis	HP:0040281	ORPHA:201
6390	SDHB	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:29072
6390	SDHB	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:276621
6390	SDHB	HP:0006824	Cranial nerve paralysis	HP:0040282	ORPHA:97286
6390	SDHB	HP:0006824	Cranial nerve paralysis	-	OMIM:115310
6390	SDHB	HP:0006801	Hyperactive deep tendon reflexes	HP:0040282	ORPHA:3208
6390	SDHB	HP:0005595	Generalized hyperkeratosis	HP:0040281	ORPHA:201
6390	SDHB	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:201
6390	SDHB	HP:0005584	Renal cell carcinoma	-	OMIM:115310
6390	SDHB	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:29072
6390	SDHB	HP:0006895	Lower limb hypertonia	HP:0040283	ORPHA:3208
6390	SDHB	HP:0000639	Nystagmus	HP:0040284	ORPHA:3208
6390	SDHB	HP:0001962	Palpitations	-	OMIM:115310
6390	SDHB	HP:0001962	Palpitations	HP:0040282	ORPHA:276621
6390	SDHB	HP:0001962	Palpitations	HP:0040282	ORPHA:29072
6390	SDHB	HP:0000618	Blindness	HP:0040284	ORPHA:3208
6390	SDHB	HP:0001903	Anemia	HP:0040283	ORPHA:44890
6390	SDHB	HP:0011343	Moderate global developmental delay	HP:0040283	ORPHA:3208
6390	SDHB	HP:0004322	Short stature	HP:0040283	ORPHA:201
6390	SDHB	HP:0003002	Breast carcinoma	HP:0040281	ORPHA:201
6390	SDHB	HP:0003001	Glomus jugular tumor	-	OMIM:115310
6390	SDHB	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:29072
6390	SDHB	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:276621
6390	SDHB	HP:0004390	Hamartomatous polyposis	HP:0040282	ORPHA:201
6390	SDHB	HP:0003006	Neuroblastoma	HP:0040283	OMIM:115310
6390	SDHB	HP:0031936	Delayed ability to walk	1/1	OMIM:619224
6390	SDHB	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:201
6390	SDHB	HP:0000771	Gynecomastia	HP:0040283	ORPHA:201
6390	SDHB	HP:0012733	Macule	HP:0040281	ORPHA:201
6390	SDHB	HP:0012740	Papilloma	HP:0040281	ORPHA:201
6390	SDHB	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:201
6390	SDHB	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:201
6390	SDHB	HP:0000737	Irritability	HP:0040283	ORPHA:3208
6390	SDHB	HP:0000737	Irritability	1/1	OMIM:619224
6390	SDHB	HP:0000750	Delayed speech and language development	1/5	OMIM:619224
6390	SDHB	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:29072
6390	SDHB	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:276621
6390	SDHB	HP:0000740	Episodic paroxysmal anxiety	-	OMIM:115310
6390	SDHB	HP:0012707	Elevated brain lactate level by MRS	1/1	OMIM:619224
6390	SDHB	HP:0000717	Autism	HP:0040283	ORPHA:201
6390	SDHB	HP:0000726	Dementia	HP:0040284	ORPHA:3208
6390	SDHB	HP:0011463	Childhood onset	3/6	OMIM:619224
6390	SDHB	HP:0000790	Hematuria	HP:0040283	ORPHA:276621
6390	SDHB	HP:0000790	Hematuria	HP:0040283	ORPHA:29072
6390	SDHB	HP:0000853	Goiter	HP:0040281	ORPHA:201
6390	SDHB	HP:0012817	Noncompaction cardiomyopathy	HP:0040283	ORPHA:3208
6390	SDHB	HP:0000820	Abnormality of the thyroid gland	HP:0040282	ORPHA:201
6390	SDHB	HP:0030890	Hyperintensity of cerebral white matter on MRI	1/1	OMIM:619224
6390	SDHB	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:3208
6390	SDHB	HP:0000995	Melanocytic nevus	HP:0040282	ORPHA:201
6390	SDHB	HP:0000980	Pallor	HP:0040283	ORPHA:276621
6390	SDHB	HP:0000980	Pallor	HP:0040283	ORPHA:29072
6390	SDHB	HP:0100273	Neoplasm of the colon	HP:0040283	ORPHA:44890
6390	SDHB	HP:0000975	Hyperhidrosis	-	OMIM:115310
6390	SDHB	HP:0000988	Skin rash	HP:0040283	ORPHA:44890
6390	SDHB	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:201
6390	SDHB	HP:0000953	Hyperpigmentation of the skin	-	OMIM:606764
6390	SDHB	HP:0100242	Sarcoma	HP:0040281	ORPHA:44890
6390	SDHB	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:201
6390	SDHB	HP:0040196	Mild microcephaly	HP:0040283	ORPHA:3208
6390	SDHB	HP:0000256	Macrocephaly	HP:0040282	ORPHA:201
6390	SDHB	HP:0030074	Chemodectoma	-	OMIM:115310
6390	SDHB	HP:0002808	Kyphosis	HP:0040283	ORPHA:201
6390	SDHB	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:3208
6390	SDHB	HP:0000252	Microcephaly	1/5	OMIM:619224
6390	SDHB	HP:0012222	Arachnoid hemangiomatosis	HP:0040283	ORPHA:29072
6390	SDHB	HP:0000221	Furrowed tongue	HP:0040282	ORPHA:201
6390	SDHB	HP:0000218	High palate	HP:0040283	ORPHA:201
6390	SDHB	HP:0002861	Melanoma	HP:0040283	ORPHA:201
6390	SDHB	HP:0002858	Meningioma	HP:0040282	ORPHA:201
6390	SDHB	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:29072
6390	SDHB	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:276621
6390	SDHB	HP:0002864	Paraganglioma of head and neck	3/9	OMIM:115310
6390	SDHB	HP:0001508	Failure to thrive	HP:0040283	ORPHA:201
6390	SDHB	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:3208
6390	SDHB	HP:0012378	Fatigue	HP:0040282	ORPHA:276621
6390	SDHB	HP:0012378	Fatigue	HP:0040282	ORPHA:29072
6390	SDHB	HP:0012378	Fatigue	HP:0040282	ORPHA:44890
6390	SDHB	HP:0005214	Intestinal obstruction	HP:0040282	ORPHA:97286
6390	SDHB	HP:0005214	Intestinal obstruction	HP:0040282	ORPHA:44890
6390	SDHB	HP:0005214	Intestinal obstruction	-	OMIM:606764
6390	SDHB	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:29072
6390	SDHB	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:276621
6390	SDHB	HP:0001618	Dysphonia	HP:0040282	ORPHA:29072
6390	SDHB	HP:0001618	Dysphonia	HP:0040282	ORPHA:276621
6390	SDHB	HP:0005150	Abnormal atrioventricular conduction	HP:0040283	ORPHA:3208
6390	SDHB	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:3208
6390	SDHB	HP:0000365	Hearing impairment	HP:0040282	ORPHA:97286
6390	SDHB	HP:0000365	Hearing impairment	HP:0040283	ORPHA:201
6390	SDHB	HP:0000360	Tinnitus	HP:0040282	ORPHA:97286
6390	SDHB	HP:0001649	Tachycardia	-	OMIM:115310
6390	SDHB	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:3208
6390	SDHB	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:3208
6390	SDHB	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:276621
6390	SDHB	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:29072
6390	SDHB	HP:0011166	Focal myoclonic seizure	HP:0040283	ORPHA:3208
6390	SDHB	HP:0005374	Cellular immunodeficiency	HP:0040283	ORPHA:201
6390	SDHB	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:276621
6390	SDHB	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:29072
6390	SDHB	HP:0001712	Left ventricular hypertrophy	HP:0040282	ORPHA:3208
6390	SDHB	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:3208
6390	SDHB	HP:0012402	Increased urine alpha-ketoglutarate concentration	1/1	OMIM:619224
6390	SDHB	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:29072
6390	SDHB	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:276621
6390	SDHB	HP:0006748	Adrenal pheochromocytoma	2/9	OMIM:115310
6390	SDHB	HP:0006753	Neoplasm of the stomach	HP:0040281	ORPHA:44890
6390	SDHB	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:29072
6390	SDHB	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:276621
6390	SDHB	HP:0006737	Extraadrenal pheochromocytoma	5/9	OMIM:115310
6390	SDHB	HP:0006731	Follicular thyroid carcinoma	HP:0040283	ORPHA:201
6390	SDHB	HP:0000518	Cataract	HP:0040283	ORPHA:201
6390	SDHB	HP:0000526	Aniridia	HP:0040284	ORPHA:29072
6390	SDHB	HP:0001824	Weight loss	HP:0040282	ORPHA:276621
6390	SDHB	HP:0001824	Weight loss	HP:0040282	ORPHA:29072
6390	SDHB	HP:0001824	Weight loss	HP:0040282	ORPHA:3208
6390	SDHB	HP:0001824	Weight loss	HP:0040282	ORPHA:97286
6390	SDHB	HP:0000580	Pigmentary retinopathy	HP:0040284	ORPHA:3208
6390	SDHB	HP:0000545	Myopia	HP:0040283	ORPHA:201
6390	SDHB	HP:0000544	External ophthalmoplegia	HP:0040284	ORPHA:3208
6391	SDHC	HP:0001176	Large hands	-	OMIM:606764
6391	SDHC	HP:0001156	Brachydactyly	HP:0040283	ORPHA:201
6391	SDHC	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:29072
6391	SDHC	HP:0008629	Pulsatile tinnitus	-	OMIM:605373
6391	SDHC	HP:0003745	Sporadic	-	OMIM:606764
6391	SDHC	HP:0025269	Panic attack	HP:0040283	ORPHA:29072
6391	SDHC	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:29072
6391	SDHC	HP:0100833	Neoplasm of the small intestine	HP:0040283	ORPHA:44890
6391	SDHC	HP:0001250	Seizure	HP:0040283	ORPHA:201
6391	SDHC	HP:0001251	Ataxia	HP:0040282	ORPHA:201
6391	SDHC	HP:0001249	Intellectual disability	HP:0040282	ORPHA:201
6391	SDHC	HP:0001263	Global developmental delay	HP:0040282	ORPHA:201
6391	SDHC	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:29072
6391	SDHC	HP:0007400	Irregular hyperpigmentation	HP:0040283	ORPHA:44890
6391	SDHC	HP:0007378	Neoplasm of the gastrointestinal tract	-	OMIM:606864
6391	SDHC	HP:0007378	Neoplasm of the gastrointestinal tract	HP:0040283	ORPHA:44890
6391	SDHC	HP:0008675	Enlarged polycystic ovaries	HP:0040283	ORPHA:201
6391	SDHC	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:201
6391	SDHC	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:29072
6391	SDHC	HP:0000093	Proteinuria	HP:0040282	ORPHA:29072
6391	SDHC	HP:0012062	Bone cyst	HP:0040283	ORPHA:201
6391	SDHC	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:44890
6391	SDHC	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:201
6391	SDHC	HP:0012032	Lipoma	HP:0040282	ORPHA:201
6391	SDHC	HP:0000036	Abnormal penis morphology	HP:0040282	ORPHA:201
6391	SDHC	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:201
6391	SDHC	HP:0002664	Neoplasm	HP:0040282	ORPHA:201
6391	SDHC	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:29072
6391	SDHC	HP:0002668	Paraganglioma	-	OMIM:606864
6391	SDHC	HP:0002668	Paraganglioma	HP:0040281	ORPHA:97286
6391	SDHC	HP:0002668	Paraganglioma	HP:0040281	ORPHA:29072
6391	SDHC	HP:0002668	Paraganglioma	5/5	OMIM:605373
6391	SDHC	HP:0001337	Tremor	HP:0040283	ORPHA:29072
6391	SDHC	HP:0000006	Autosomal dominant inheritance	-	OMIM:606764
6391	SDHC	HP:0000006	Autosomal dominant inheritance	-	OMIM:605373
6391	SDHC	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:29072
6391	SDHC	HP:0002640	Hypertension associated with pheochromocytoma	-	OMIM:605373
6391	SDHC	HP:0002650	Scoliosis	HP:0040283	ORPHA:201
6391	SDHC	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:201
6391	SDHC	HP:0000158	Macroglossia	HP:0040282	ORPHA:201
6391	SDHC	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:201
6391	SDHC	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:201
6391	SDHC	HP:0031284	Flushing	HP:0040282	ORPHA:29072
6391	SDHC	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:201
6391	SDHC	HP:0002018	Nausea	HP:0040282	ORPHA:29072
6391	SDHC	HP:0002019	Constipation	HP:0040282	ORPHA:44890
6391	SDHC	HP:0002019	Constipation	-	OMIM:606764
6391	SDHC	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:44890
6391	SDHC	HP:0002027	Abdominal pain	HP:0040282	ORPHA:97286
6391	SDHC	HP:0003334	Elevated circulating catecholamine level	-	OMIM:605373
6391	SDHC	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:29072
6391	SDHC	HP:0002015	Dysphagia	HP:0040282	ORPHA:97286
6391	SDHC	HP:0002015	Dysphagia	HP:0040282	ORPHA:44890
6391	SDHC	HP:0002015	Dysphagia	-	OMIM:606764
6391	SDHC	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:201
6391	SDHC	HP:0100579	Mucosal telangiectasiae	HP:0040282	ORPHA:201
6391	SDHC	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:29072
6391	SDHC	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:29072
6391	SDHC	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:29072
6391	SDHC	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:97286
6391	SDHC	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:44890
6391	SDHC	HP:0003581	Adult onset	5/5	OMIM:605373
6391	SDHC	HP:0003528	Elevated circulating calcitonin concentration	HP:0040283	ORPHA:29072
6391	SDHC	HP:0100780	Conjunctival hamartoma	HP:0040281	ORPHA:201
6391	SDHC	HP:0009720	Adenoma sebaceum	HP:0040282	ORPHA:201
6391	SDHC	HP:0009711	Retinal capillary hemangioma	HP:0040283	ORPHA:29072
6391	SDHC	HP:0100723	Gastrointestinal stroma tumor	-	OMIM:606764
6391	SDHC	HP:0100723	Gastrointestinal stroma tumor	HP:0040281	ORPHA:97286
6391	SDHC	HP:0100723	Gastrointestinal stroma tumor	HP:0040281	ORPHA:44890
6391	SDHC	HP:0100751	Esophageal neoplasm	HP:0040283	ORPHA:44890
6391	SDHC	HP:0100743	Neoplasm of the rectum	HP:0040283	ORPHA:44890
6391	SDHC	HP:0100749	Chest pain	HP:0040282	ORPHA:29072
6391	SDHC	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:29072
6391	SDHC	HP:0010614	Fibroma	HP:0040282	ORPHA:201
6391	SDHC	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:201
6391	SDHC	HP:0001048	Cavernous hemangioma	HP:0040282	ORPHA:201
6391	SDHC	HP:0001067	Neurofibroma	-	OMIM:606764
6391	SDHC	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:29072
6391	SDHC	HP:0001025	Urticaria	-	OMIM:606764
6391	SDHC	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:29072
6391	SDHC	HP:0002331	Recurrent paroxysmal headache	-	OMIM:605373
6391	SDHC	HP:0200034	Papule	HP:0040281	ORPHA:201
6391	SDHC	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:29072
6391	SDHC	HP:0200063	Colorectal polyposis	HP:0040281	ORPHA:201
6391	SDHC	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:29072
6391	SDHC	HP:0006824	Cranial nerve paralysis	HP:0040282	ORPHA:97286
6391	SDHC	HP:0006824	Cranial nerve paralysis	-	OMIM:605373
6391	SDHC	HP:0005595	Generalized hyperkeratosis	HP:0040281	ORPHA:201
6391	SDHC	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:201
6391	SDHC	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:29072
6391	SDHC	HP:0001962	Palpitations	-	OMIM:605373
6391	SDHC	HP:0001962	Palpitations	HP:0040282	ORPHA:29072
6391	SDHC	HP:0001903	Anemia	HP:0040283	ORPHA:44890
6391	SDHC	HP:0004322	Short stature	HP:0040283	ORPHA:201
6391	SDHC	HP:0003002	Breast carcinoma	HP:0040281	ORPHA:201
6391	SDHC	HP:0003001	Glomus jugular tumor	-	OMIM:605373
6391	SDHC	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:29072
6391	SDHC	HP:0004390	Hamartomatous polyposis	HP:0040282	ORPHA:201
6391	SDHC	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:201
6391	SDHC	HP:0000771	Gynecomastia	HP:0040283	ORPHA:201
6391	SDHC	HP:0012733	Macule	HP:0040281	ORPHA:201
6391	SDHC	HP:0012740	Papilloma	HP:0040281	ORPHA:201
6391	SDHC	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:201
6391	SDHC	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:201
6391	SDHC	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:29072
6391	SDHC	HP:0000740	Episodic paroxysmal anxiety	-	OMIM:605373
6391	SDHC	HP:0000717	Autism	HP:0040283	ORPHA:201
6391	SDHC	HP:0000790	Hematuria	HP:0040283	ORPHA:29072
6391	SDHC	HP:0000853	Goiter	HP:0040281	ORPHA:201
6391	SDHC	HP:0000820	Abnormality of the thyroid gland	HP:0040282	ORPHA:201
6391	SDHC	HP:0000995	Melanocytic nevus	HP:0040282	ORPHA:201
6391	SDHC	HP:0000980	Pallor	HP:0040283	ORPHA:29072
6391	SDHC	HP:0100273	Neoplasm of the colon	HP:0040283	ORPHA:44890
6391	SDHC	HP:0000975	Hyperhidrosis	-	OMIM:605373
6391	SDHC	HP:0000988	Skin rash	HP:0040283	ORPHA:44890
6391	SDHC	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:201
6391	SDHC	HP:0000953	Hyperpigmentation of the skin	-	OMIM:606764
6391	SDHC	HP:0100242	Sarcoma	HP:0040281	ORPHA:44890
6391	SDHC	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:201
6391	SDHC	HP:0000256	Macrocephaly	HP:0040282	ORPHA:201
6391	SDHC	HP:0030074	Chemodectoma	-	OMIM:605373
6391	SDHC	HP:0002808	Kyphosis	HP:0040283	ORPHA:201
6391	SDHC	HP:0012222	Arachnoid hemangiomatosis	HP:0040283	ORPHA:29072
6391	SDHC	HP:0000221	Furrowed tongue	HP:0040282	ORPHA:201
6391	SDHC	HP:0000218	High palate	HP:0040283	ORPHA:201
6391	SDHC	HP:0002861	Melanoma	HP:0040283	ORPHA:201
6391	SDHC	HP:0002858	Meningioma	HP:0040282	ORPHA:201
6391	SDHC	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:29072
6391	SDHC	HP:0001508	Failure to thrive	HP:0040283	ORPHA:201
6391	SDHC	HP:0012378	Fatigue	HP:0040282	ORPHA:29072
6391	SDHC	HP:0012378	Fatigue	HP:0040282	ORPHA:44890
6391	SDHC	HP:0005214	Intestinal obstruction	HP:0040282	ORPHA:97286
6391	SDHC	HP:0005214	Intestinal obstruction	HP:0040282	ORPHA:44890
6391	SDHC	HP:0005214	Intestinal obstruction	-	OMIM:606764
6391	SDHC	HP:0001609	Hoarse voice	-	OMIM:605373
6391	SDHC	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:29072
6391	SDHC	HP:0001605	Vocal cord paralysis	-	OMIM:605373
6391	SDHC	HP:0001618	Dysphonia	HP:0040282	ORPHA:29072
6391	SDHC	HP:0000365	Hearing impairment	HP:0040282	ORPHA:97286
6391	SDHC	HP:0000365	Hearing impairment	HP:0040283	ORPHA:201
6391	SDHC	HP:0000360	Tinnitus	HP:0040282	ORPHA:97286
6391	SDHC	HP:0001686	Loss of voice	-	OMIM:605373
6391	SDHC	HP:0001649	Tachycardia	-	OMIM:605373
6391	SDHC	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:29072
6391	SDHC	HP:0005374	Cellular immunodeficiency	HP:0040283	ORPHA:201
6391	SDHC	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:29072
6391	SDHC	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:29072
6391	SDHC	HP:0006748	Adrenal pheochromocytoma	-	OMIM:605373
6391	SDHC	HP:0006753	Neoplasm of the stomach	HP:0040281	ORPHA:44890
6391	SDHC	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:29072
6391	SDHC	HP:0006737	Extraadrenal pheochromocytoma	-	OMIM:605373
6391	SDHC	HP:0006731	Follicular thyroid carcinoma	HP:0040283	ORPHA:201
6391	SDHC	HP:0000518	Cataract	HP:0040283	ORPHA:201
6391	SDHC	HP:0000526	Aniridia	HP:0040284	ORPHA:29072
6391	SDHC	HP:0001824	Weight loss	HP:0040282	ORPHA:29072
6391	SDHC	HP:0001824	Weight loss	HP:0040282	ORPHA:97286
6391	SDHC	HP:0000545	Myopia	HP:0040283	ORPHA:201
6392	SDHD	HP:0001156	Brachydactyly	HP:0040283	ORPHA:201
6392	SDHD	HP:0002474	Expressive language delay	HP:0040283	ORPHA:3208
6392	SDHD	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:29072
6392	SDHD	HP:0008629	Pulsatile tinnitus	-	OMIM:168000
6392	SDHD	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:276621
6392	SDHD	HP:0009926	Epiphora	HP:0040283	ORPHA:100093
6392	SDHD	HP:0025169	Left ventricular systolic dysfunction	1/1	OMIM:619167
6392	SDHD	HP:0007272	Progressive psychomotor deterioration	HP:0040282	ORPHA:3208
6392	SDHD	HP:0002421	Poor head control	HP:0040284	ORPHA:3208
6392	SDHD	HP:0003756	Skeletal myopathy	HP:0040282	ORPHA:3208
6392	SDHD	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:3208
6392	SDHD	HP:0025269	Panic attack	HP:0040283	ORPHA:29072
6392	SDHD	HP:0025269	Panic attack	HP:0040283	ORPHA:276621
6392	SDHD	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:29072
6392	SDHD	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:276621
6392	SDHD	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:3208
6392	SDHD	HP:0001270	Motor delay	HP:0040282	ORPHA:3208
6392	SDHD	HP:0001285	Spastic tetraparesis	HP:0040283	ORPHA:3208
6392	SDHD	HP:0001250	Seizure	1/1	OMIM:619167
6392	SDHD	HP:0001250	Seizure	HP:0040283	ORPHA:3208
6392	SDHD	HP:0001250	Seizure	HP:0040283	ORPHA:201
6392	SDHD	HP:0001252	Hypotonia	1/1	OMIM:619167
6392	SDHD	HP:0001251	Ataxia	1/1	OMIM:619167
6392	SDHD	HP:0001251	Ataxia	HP:0040283	ORPHA:3208
6392	SDHD	HP:0001251	Ataxia	HP:0040282	ORPHA:201
6392	SDHD	HP:0001249	Intellectual disability	HP:0040282	ORPHA:201
6392	SDHD	HP:0001263	Global developmental delay	1/1	OMIM:619167
6392	SDHD	HP:0001263	Global developmental delay	HP:0040282	ORPHA:201
6392	SDHD	HP:0001257	Spasticity	HP:0040282	ORPHA:3208
6392	SDHD	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:29072
6392	SDHD	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:276621
6392	SDHD	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:100093
6392	SDHD	HP:0007380	Facial telangiectasia	HP:0040283	ORPHA:100093
6392	SDHD	HP:0007378	Neoplasm of the gastrointestinal tract	-	OMIM:606864
6392	SDHD	HP:0007350	Upper limb hyperreflexia	HP:0040282	ORPHA:3208
6392	SDHD	HP:0008675	Enlarged polycystic ovaries	HP:0040283	ORPHA:201
6392	SDHD	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:201
6392	SDHD	HP:0002505	Loss of ambulation	HP:0040284	ORPHA:3208
6392	SDHD	HP:0003811	Neonatal death	1/1	OMIM:619167
6392	SDHD	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:29072
6392	SDHD	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:276621
6392	SDHD	HP:0000093	Proteinuria	HP:0040282	ORPHA:276621
6392	SDHD	HP:0000093	Proteinuria	HP:0040282	ORPHA:29072
6392	SDHD	HP:0012062	Bone cyst	HP:0040283	ORPHA:201
6392	SDHD	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:201
6392	SDHD	HP:0000076	Vesicoureteral reflux	HP:0040284	ORPHA:3208
6392	SDHD	HP:0012043	Pendular nystagmus	1/1	OMIM:619167
6392	SDHD	HP:0012032	Lipoma	HP:0040282	ORPHA:201
6392	SDHD	HP:0000036	Abnormal penis morphology	HP:0040282	ORPHA:201
6392	SDHD	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:201
6392	SDHD	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:3208
6392	SDHD	HP:0002664	Neoplasm	HP:0040282	ORPHA:201
6392	SDHD	HP:0001332	Dystonia	1/1	OMIM:619167
6392	SDHD	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:29072
6392	SDHD	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:276621
6392	SDHD	HP:0000007	Autosomal recessive inheritance	-	OMIM:619167
6392	SDHD	HP:0002668	Paraganglioma	-	OMIM:606864
6392	SDHD	HP:0002668	Paraganglioma	HP:0040281	ORPHA:97286
6392	SDHD	HP:0002668	Paraganglioma	HP:0040281	ORPHA:29072
6392	SDHD	HP:0002668	Paraganglioma	HP:0040284	ORPHA:100093
6392	SDHD	HP:0002668	Paraganglioma	HP:0040281	ORPHA:276621
6392	SDHD	HP:0001337	Tremor	HP:0040283	ORPHA:29072
6392	SDHD	HP:0001337	Tremor	HP:0040283	ORPHA:276621
6392	SDHD	HP:0000006	Autosomal dominant inheritance	-	OMIM:168000
6392	SDHD	HP:0001336	Myoclonus	1/1	OMIM:619167
6392	SDHD	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:29072
6392	SDHD	HP:0002640	Hypertension associated with pheochromocytoma	-	OMIM:168000
6392	SDHD	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:276621
6392	SDHD	HP:0002650	Scoliosis	HP:0040283	ORPHA:201
6392	SDHD	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:201
6392	SDHD	HP:0031138	Abnormal circulating B-type natriuretic peptide concentration	HP:0040283	ORPHA:100093
6392	SDHD	HP:0002605	Hepatic necrosis	HP:0040284	ORPHA:100093
6392	SDHD	HP:0025474	Erythematous plaque	HP:0040282	ORPHA:100093
6392	SDHD	HP:0000158	Macroglossia	HP:0040282	ORPHA:201
6392	SDHD	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:201
6392	SDHD	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:201
6392	SDHD	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:3208
6392	SDHD	HP:0031284	Flushing	HP:0040282	ORPHA:29072
6392	SDHD	HP:0031284	Flushing	HP:0040282	ORPHA:276621
6392	SDHD	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:201
6392	SDHD	HP:0002730	Chronic noninfectious lymphadenopathy	HP:0040283	ORPHA:100093
6392	SDHD	HP:0002018	Nausea	HP:0040282	ORPHA:276621
6392	SDHD	HP:0002018	Nausea	HP:0040282	ORPHA:29072
6392	SDHD	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:100093
6392	SDHD	HP:0002027	Abdominal pain	HP:0040282	ORPHA:97286
6392	SDHD	HP:0003334	Elevated circulating catecholamine level	-	OMIM:168000
6392	SDHD	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:29072
6392	SDHD	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:276621
6392	SDHD	HP:0002015	Dysphagia	HP:0040282	ORPHA:97286
6392	SDHD	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:3208
6392	SDHD	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:201
6392	SDHD	HP:0002099	Asthma	HP:0040283	ORPHA:100093
6392	SDHD	HP:0003388	Easy fatigability	HP:0040282	ORPHA:3208
6392	SDHD	HP:0100570	Carcinoid tumor	HP:0040280	ORPHA:100093
6392	SDHD	HP:0100579	Mucosal telangiectasiae	HP:0040282	ORPHA:201
6392	SDHD	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:29072
6392	SDHD	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:276621
6392	SDHD	HP:0003487	Babinski sign	HP:0040282	ORPHA:3208
6392	SDHD	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:3208
6392	SDHD	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:29072
6392	SDHD	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:276621
6392	SDHD	HP:0003596	Middle age onset	14/49	OMIM:168000
6392	SDHD	HP:0003593	Infantile onset	1/1	OMIM:619167
6392	SDHD	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:29072
6392	SDHD	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:276621
6392	SDHD	HP:0002240	Hepatomegaly	1/1	OMIM:619167
6392	SDHD	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:97286
6392	SDHD	HP:0003584	Late onset	4/49	OMIM:168000
6392	SDHD	HP:0003528	Elevated circulating calcitonin concentration	HP:0040283	ORPHA:29072
6392	SDHD	HP:0100780	Conjunctival hamartoma	HP:0040281	ORPHA:201
6392	SDHD	HP:0009720	Adenoma sebaceum	HP:0040282	ORPHA:201
6392	SDHD	HP:0009711	Retinal capillary hemangioma	HP:0040283	ORPHA:29072
6392	SDHD	HP:0100723	Gastrointestinal stroma tumor	HP:0040281	ORPHA:97286
6392	SDHD	HP:0100749	Chest pain	HP:0040282	ORPHA:276621
6392	SDHD	HP:0100749	Chest pain	HP:0040282	ORPHA:29072
6392	SDHD	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:29072
6392	SDHD	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:276621
6392	SDHD	HP:0011968	Feeding difficulties	1/1	OMIM:619167
6392	SDHD	HP:0011951	Aspiration pneumonia	1/1	OMIM:619167
6392	SDHD	HP:0008314	Decreased activity of mitochondrial complex II	2/2	OMIM:619167
6392	SDHD	HP:0010614	Fibroma	HP:0040282	ORPHA:201
6392	SDHD	HP:0003510	Severe short stature	HP:0040282	ORPHA:3208
6392	SDHD	HP:0003508	Proportionate short stature	HP:0040282	ORPHA:3208
6392	SDHD	HP:0007083	Hyperactive patellar reflex	HP:0040282	ORPHA:3208
6392	SDHD	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:201
6392	SDHD	HP:0001048	Cavernous hemangioma	HP:0040282	ORPHA:201
6392	SDHD	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:29072
6392	SDHD	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:276621
6392	SDHD	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:3208
6392	SDHD	HP:0002359	Frequent falls	HP:0040283	ORPHA:3208
6392	SDHD	HP:0002376	Developmental regression	1/1	OMIM:619167
6392	SDHD	HP:0002376	Developmental regression	HP:0040282	ORPHA:3208
6392	SDHD	HP:0003648	Lacticaciduria	1/1	OMIM:619167
6392	SDHD	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:3208
6392	SDHD	HP:0002333	Motor deterioration	HP:0040282	ORPHA:3208
6392	SDHD	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:29072
6392	SDHD	HP:0002331	Recurrent paroxysmal headache	-	OMIM:168000
6392	SDHD	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:276621
6392	SDHD	HP:0200034	Papule	HP:0040281	ORPHA:201
6392	SDHD	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:29072
6392	SDHD	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:276621
6392	SDHD	HP:0200063	Colorectal polyposis	HP:0040281	ORPHA:201
6392	SDHD	HP:0100635	Carotid paraganglioma	2/25	OMIM:168000
6392	SDHD	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:29072
6392	SDHD	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:276621
6392	SDHD	HP:0003621	Juvenile onset	9/49	OMIM:168000
6392	SDHD	HP:0006824	Cranial nerve paralysis	HP:0040282	ORPHA:97286
6392	SDHD	HP:0006824	Cranial nerve paralysis	-	OMIM:168000
6392	SDHD	HP:4000007	Bronchoconstriction	HP:0040283	ORPHA:100093
6392	SDHD	HP:0006801	Hyperactive deep tendon reflexes	HP:0040282	ORPHA:3208
6392	SDHD	HP:0005595	Generalized hyperkeratosis	HP:0040281	ORPHA:201
6392	SDHD	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:201
6392	SDHD	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:29072
6392	SDHD	HP:0006895	Lower limb hypertonia	HP:0040283	ORPHA:3208
6392	SDHD	HP:0000639	Nystagmus	HP:0040284	ORPHA:3208
6392	SDHD	HP:0001962	Palpitations	HP:0040282	ORPHA:276621
6392	SDHD	HP:0001962	Palpitations	-	OMIM:168000
6392	SDHD	HP:0001962	Palpitations	HP:0040282	ORPHA:29072
6392	SDHD	HP:0001962	Palpitations	HP:0040283	ORPHA:100093
6392	SDHD	HP:0000618	Blindness	HP:0040284	ORPHA:3208
6392	SDHD	HP:0011343	Moderate global developmental delay	HP:0040283	ORPHA:3208
6392	SDHD	HP:0004322	Short stature	HP:0040283	ORPHA:201
6392	SDHD	HP:0003002	Breast carcinoma	HP:0040281	ORPHA:201
6392	SDHD	HP:0003001	Glomus jugular tumor	-	OMIM:168000
6392	SDHD	HP:0030682	Left ventricular noncompaction	1/1	OMIM:619167
6392	SDHD	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:29072
6392	SDHD	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:276621
6392	SDHD	HP:0004385	Protracted diarrhea	HP:0040282	ORPHA:100093
6392	SDHD	HP:0004390	Hamartomatous polyposis	HP:0040282	ORPHA:201
6392	SDHD	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:201
6392	SDHD	HP:0000771	Gynecomastia	HP:0040283	ORPHA:201
6392	SDHD	HP:0012733	Macule	HP:0040281	ORPHA:201
6392	SDHD	HP:0012740	Papilloma	HP:0040281	ORPHA:201
6392	SDHD	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:201
6392	SDHD	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:201
6392	SDHD	HP:0000737	Irritability	HP:0040283	ORPHA:3208
6392	SDHD	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:29072
6392	SDHD	HP:0000740	Episodic paroxysmal anxiety	-	OMIM:168000
6392	SDHD	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:276621
6392	SDHD	HP:0012708	Reduced brain N-acetyl aspartate level by MRS	1/1	OMIM:619167
6392	SDHD	HP:0000717	Autism	HP:0040283	ORPHA:201
6392	SDHD	HP:0000726	Dementia	HP:0040284	ORPHA:3208
6392	SDHD	HP:0011462	Young adult onset	22/49	OMIM:168000
6392	SDHD	HP:0011461	Fetal onset	1/1	OMIM:619167
6392	SDHD	HP:0000790	Hematuria	HP:0040283	ORPHA:276621
6392	SDHD	HP:0000790	Hematuria	HP:0040283	ORPHA:29072
6392	SDHD	HP:0003198	Myopathy	HP:0040284	ORPHA:100093
6392	SDHD	HP:0003128	Lactic acidosis	1/1	OMIM:619167
6392	SDHD	HP:0003144	Increased serum serotonin	HP:0040283	ORPHA:100093
6392	SDHD	HP:0000853	Goiter	HP:0040281	ORPHA:201
6392	SDHD	HP:0012817	Noncompaction cardiomyopathy	HP:0040283	ORPHA:3208
6392	SDHD	HP:0000820	Abnormality of the thyroid gland	HP:0040282	ORPHA:201
6392	SDHD	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:3208
6392	SDHD	HP:0000995	Melanocytic nevus	HP:0040282	ORPHA:201
6392	SDHD	HP:0000980	Pallor	HP:0040283	ORPHA:276621
6392	SDHD	HP:0000980	Pallor	HP:0040283	ORPHA:29072
6392	SDHD	HP:0000975	Hyperhidrosis	-	OMIM:168000
6392	SDHD	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:201
6392	SDHD	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:201
6392	SDHD	HP:0040196	Mild microcephaly	HP:0040283	ORPHA:3208
6392	SDHD	HP:0000256	Macrocephaly	HP:0040282	ORPHA:201
6392	SDHD	HP:0031417	Rhinorrhea	HP:0040283	ORPHA:100093
6392	SDHD	HP:0030074	Chemodectoma	-	OMIM:168000
6392	SDHD	HP:0002808	Kyphosis	HP:0040283	ORPHA:201
6392	SDHD	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:3208
6392	SDHD	HP:0012222	Arachnoid hemangiomatosis	HP:0040283	ORPHA:29072
6392	SDHD	HP:0000221	Furrowed tongue	HP:0040282	ORPHA:201
6392	SDHD	HP:0000218	High palate	HP:0040283	ORPHA:201
6392	SDHD	HP:0002886	Vagal paraganglioma	-	OMIM:168000
6392	SDHD	HP:0002861	Melanoma	HP:0040283	ORPHA:201
6392	SDHD	HP:0002858	Meningioma	HP:0040282	ORPHA:201
6392	SDHD	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:29072
6392	SDHD	HP:0002864	Paraganglioma of head and neck	6/49	OMIM:168000
6392	SDHD	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:276621
6392	SDHD	HP:0001508	Failure to thrive	HP:0040283	ORPHA:201
6392	SDHD	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:3208
6392	SDHD	HP:0012378	Fatigue	HP:0040282	ORPHA:276621
6392	SDHD	HP:0012378	Fatigue	HP:0040282	ORPHA:29072
6392	SDHD	HP:0005214	Intestinal obstruction	HP:0040282	ORPHA:97286
6392	SDHD	HP:0001609	Hoarse voice	-	OMIM:168000
6392	SDHD	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:29072
6392	SDHD	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:276621
6392	SDHD	HP:0001605	Vocal cord paralysis	-	OMIM:168000
6392	SDHD	HP:0001618	Dysphonia	HP:0040282	ORPHA:29072
6392	SDHD	HP:0001618	Dysphonia	HP:0040282	ORPHA:276621
6392	SDHD	HP:0002919	Ketonuria	1/1	OMIM:619167
6392	SDHD	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:100093
6392	SDHD	HP:0005180	Tricuspid regurgitation	1/1	OMIM:619167
6392	SDHD	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:100093
6392	SDHD	HP:0005150	Abnormal atrioventricular conduction	HP:0040283	ORPHA:3208
6392	SDHD	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:3208
6392	SDHD	HP:0000365	Hearing impairment	HP:0040282	ORPHA:97286
6392	SDHD	HP:0000365	Hearing impairment	HP:0040283	ORPHA:201
6392	SDHD	HP:0000360	Tinnitus	HP:0040282	ORPHA:97286
6392	SDHD	HP:0001686	Loss of voice	-	OMIM:168000
6392	SDHD	HP:0001649	Tachycardia	-	OMIM:168000
6392	SDHD	HP:0001644	Dilated cardiomyopathy	1/1	OMIM:619167
6392	SDHD	HP:0030148	Heart murmur	HP:0040283	ORPHA:100093
6392	SDHD	HP:0030145	Lack of bowel sounds	HP:0040284	ORPHA:100093
6392	SDHD	HP:0001653	Mitral regurgitation	1/1	OMIM:619167
6392	SDHD	HP:0001655	Patent foramen ovale	1/1	OMIM:619167
6392	SDHD	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:3208
6392	SDHD	HP:0030166	Night sweats	HP:0040282	ORPHA:100093
6392	SDHD	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:3208
6392	SDHD	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:276621
6392	SDHD	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:29072
6392	SDHD	HP:0011166	Focal myoclonic seizure	HP:0040283	ORPHA:3208
6392	SDHD	HP:0005374	Cellular immunodeficiency	HP:0040283	ORPHA:201
6392	SDHD	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:276621
6392	SDHD	HP:0000405	Conductive hearing impairment	-	OMIM:168000
6392	SDHD	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:29072
6392	SDHD	HP:0001708	Right ventricular failure	HP:0040283	ORPHA:100093
6392	SDHD	HP:0001712	Left ventricular hypertrophy	1/1	OMIM:619167
6392	SDHD	HP:0001712	Left ventricular hypertrophy	HP:0040282	ORPHA:3208
6392	SDHD	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:3208
6392	SDHD	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:29072
6392	SDHD	HP:0006748	Adrenal pheochromocytoma	27/49	OMIM:168000
6392	SDHD	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:276621
6392	SDHD	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:29072
6392	SDHD	HP:0006737	Extraadrenal pheochromocytoma	12/24	OMIM:168000
6392	SDHD	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:276621
6392	SDHD	HP:0006731	Follicular thyroid carcinoma	HP:0040283	ORPHA:201
6392	SDHD	HP:0006715	Glomus tympanicum paraganglioma	-	OMIM:168000
6392	SDHD	HP:0006722	Small intestine carcinoid	HP:0040282	ORPHA:100093
6392	SDHD	HP:0006723	Intestinal carcinoid	HP:0040282	ORPHA:100093
6392	SDHD	HP:0030446	Atypical pulmonary carcinoid tumor	HP:0040284	ORPHA:100093
6392	SDHD	HP:0030445	Pulmonary carcinoid tumor	HP:0040283	ORPHA:100093
6392	SDHD	HP:0005484	Secondary microcephaly	1/1	OMIM:619167
6392	SDHD	HP:0000518	Cataract	HP:0040283	ORPHA:201
6392	SDHD	HP:0000526	Aniridia	HP:0040284	ORPHA:29072
6392	SDHD	HP:0001824	Weight loss	HP:0040282	ORPHA:276621
6392	SDHD	HP:0001824	Weight loss	HP:0040282	ORPHA:29072
6392	SDHD	HP:0001824	Weight loss	HP:0040282	ORPHA:3208
6392	SDHD	HP:0001824	Weight loss	HP:0040282	ORPHA:97286
6392	SDHD	HP:0000505	Visual impairment	1/1	OMIM:619167
6392	SDHD	HP:0000580	Pigmentary retinopathy	HP:0040284	ORPHA:3208
6392	SDHD	HP:0000543	Optic disc pallor	1/1	OMIM:619167
6392	SDHD	HP:0000545	Myopia	HP:0040283	ORPHA:201
6392	SDHD	HP:0000544	External ophthalmoplegia	HP:0040284	ORPHA:3208
6399	TRAPPC2	HP:0025131	Finger swelling	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6399	TRAPPC2	HP:0025263	Stiff knee	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0001293	Cranial nerve compression	-	OMIM:131300
6399	TRAPPC2	HP:0001252	Hypotonia	2/7	OMIM:615777
6399	TRAPPC2	HP:0001249	Intellectual disability	5/7	OMIM:615777
6399	TRAPPC2	HP:0001263	Global developmental delay	-	OMIM:615777
6399	TRAPPC2	HP:0100864	Short femoral neck	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0100864	Short femoral neck	1/1	OMIM:313400
6399	TRAPPC2	HP:0002515	Waddling gait	54/102	OMIM:131300
6399	TRAPPC2	HP:0003855	Spurred metaphyses of the upper limbs	HP:0040282	ORPHA:93284
6399	TRAPPC2	HP:0003832	Abnormality of the tibial plateaux	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0008812	Flattened femoral head	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:93284
6399	TRAPPC2	HP:0001376	Limitation of joint mobility	-	OMIM:313400
6399	TRAPPC2	HP:0001386	Joint swelling	HP:0040282	ORPHA:93284
6399	TRAPPC2	HP:0001382	Joint hypermobility	-	OMIM:615777
6399	TRAPPC2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6399	TRAPPC2	HP:0006233	Osteoarthritis of the distal interphalangeal joint	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0008897	Postnatal growth retardation	2/2	OMIM:313400
6399	TRAPPC2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6399	TRAPPC2	HP:0008843	Hip osteoarthritis	HP:0040282	ORPHA:93284
6399	TRAPPC2	HP:0008843	Hip osteoarthritis	-	OMIM:313400
6399	TRAPPC2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6399	TRAPPC2	HP:0001324	Muscle weakness	40/96	OMIM:131300
6399	TRAPPC2	HP:0002654	Multiple epiphyseal dysplasia	HP:0040281	ORPHA:93284
6399	TRAPPC2	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:313400
6399	TRAPPC2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6399	TRAPPC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6399	TRAPPC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6399	TRAPPC2	HP:0002650	Scoliosis	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0002650	Scoliosis	-	OMIM:313400
6399	TRAPPC2	HP:0002650	Scoliosis	12/14	OMIM:131300
6399	TRAPPC2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6399	TRAPPC2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6399	TRAPPC2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6399	TRAPPC2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6399	TRAPPC2	HP:0000175	Cleft palate	-	ORPHA:93284
6399	TRAPPC2	HP:0000175	Cleft palate	2/7	OMIM:615777
6399	TRAPPC2	HP:0006248	Limited wrist movement	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0002763	Abnormal cartilage morphology	HP:0040282	ORPHA:93284
6399	TRAPPC2	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0001419	X-linked recessive inheritance	-	OMIM:313400
6399	TRAPPC2	HP:0003365	Arthralgia of the hip	HP:0040282	ORPHA:93284
6399	TRAPPC2	HP:0003311	Hypoplasia of the odontoid process	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0004637	Decreased cervical spine mobility	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0003388	Easy fatigability	36/76	OMIM:131300
6399	TRAPPC2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6399	TRAPPC2	HP:0100569	Abnormally ossified vertebrae	HP:0040282	ORPHA:93284
6399	TRAPPC2	HP:0003418	Back pain	HP:0040282	ORPHA:93284
6399	TRAPPC2	HP:0003418	Back pain	2/2	OMIM:313400
6399	TRAPPC2	HP:0003401	Paresthesia	HP:0040284	ORPHA:93284
6399	TRAPPC2	HP:0010575	Dysplasia of the femoral head	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0010582	Irregular epiphyses	-	OMIM:313400
6399	TRAPPC2	HP:0100712	Abnormal lumbar spine morphology	HP:0040282	ORPHA:93284
6399	TRAPPC2	HP:0100769	Synovitis	-	ORPHA:93284
6399	TRAPPC2	HP:0010656	Abnormal epiphyseal ossification	HP:0040282	ORPHA:93284
6399	TRAPPC2	HP:0003510	Severe short stature	7/7	OMIM:615777
6399	TRAPPC2	HP:0003521	Disproportionate short-trunk short stature	HP:0040281	ORPHA:93284
6399	TRAPPC2	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:313400
6399	TRAPPC2	HP:0002315	Headache	-	OMIM:131300
6399	TRAPPC2	HP:0004976	Knee dislocation	6/7	OMIM:615777
6399	TRAPPC2	HP:0009803	Short phalanx of finger	-	OMIM:615777
6399	TRAPPC2	HP:0009763	Limb pain	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0009763	Limb pain	63/92	OMIM:131300
6399	TRAPPC2	HP:0003621	Juvenile onset	2/2	OMIM:313400
6399	TRAPPC2	HP:0003621	Juvenile onset	-	OMIM:131300
6399	TRAPPC2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6399	TRAPPC2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6399	TRAPPC2	HP:6001056	Out-toeing	-	OMIM:131300
6399	TRAPPC2	HP:0000651	Diplopia	-	OMIM:131300
6399	TRAPPC2	HP:0001956	Truncal obesity	2/7	OMIM:615777
6399	TRAPPC2	HP:0001903	Anemia	HP:0040283	OMIM:131300
6399	TRAPPC2	HP:0010049	Short metacarpal	-	OMIM:615777
6399	TRAPPC2	HP:0000678	Dental crowding	-	OMIM:615777
6399	TRAPPC2	HP:0012649	Increased inflammatory response	-	ORPHA:93284
6399	TRAPPC2	HP:0000670	Carious teeth	-	OMIM:131300
6399	TRAPPC2	HP:0011304	Broad thumb	2/7	OMIM:615777
6399	TRAPPC2	HP:0000668	Hypodontia	-	OMIM:615777
6399	TRAPPC2	HP:0000664	Synophrys	-	OMIM:615777
6399	TRAPPC2	HP:0003088	Premature osteoarthritis	HP:0040281	ORPHA:93284
6399	TRAPPC2	HP:0003051	Enlarged metaphyses	HP:0040281	ORPHA:93284
6399	TRAPPC2	HP:0004396	Poor appetite	-	OMIM:131300
6399	TRAPPC2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6399	TRAPPC2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6399	TRAPPC2	HP:0003043	Abnormal shoulder morphology	HP:0040282	ORPHA:93284
6399	TRAPPC2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6399	TRAPPC2	HP:0003026	Short long bone	7/7	OMIM:615777
6399	TRAPPC2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6399	TRAPPC2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6399	TRAPPC2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6399	TRAPPC2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6399	TRAPPC2	HP:0000750	Delayed speech and language development	-	OMIM:615777
6399	TRAPPC2	HP:0011461	Fetal onset	7/7	OMIM:615777
6399	TRAPPC2	HP:0012771	Increased arm span	HP:0040281	ORPHA:93284
6399	TRAPPC2	HP:0000774	Narrow chest	2/7	OMIM:615777
6399	TRAPPC2	HP:0005775	Multiple skeletal anomalies	HP:0040281	ORPHA:93284
6399	TRAPPC2	HP:0000914	Shield chest	-	OMIM:313400
6399	TRAPPC2	HP:0000926	Platyspondyly	HP:0040281	ORPHA:93284
6399	TRAPPC2	HP:0000926	Platyspondyly	2/2	OMIM:313400
6399	TRAPPC2	HP:0000926	Platyspondyly	1/7	OMIM:615777
6399	TRAPPC2	HP:0003180	Flat acetabular roof	-	OMIM:615777
6399	TRAPPC2	HP:0004482	Relative macrocephaly	-	OMIM:615777
6399	TRAPPC2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6399	TRAPPC2	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:313400
6399	TRAPPC2	HP:0000823	Delayed puberty	-	OMIM:131300
6399	TRAPPC2	HP:0010231	Enlarged epiphyses of the phalanges of the hand	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0000894	Short clavicles	-	OMIM:615777
6399	TRAPPC2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6399	TRAPPC2	HP:0004586	Biconcave vertebral bodies	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0030839	Knee pain	HP:0040282	ORPHA:93284
6399	TRAPPC2	HP:0004594	Hump-shaped mound of bone in central and posterior portions of vertebral endplate	HP:0040281	ORPHA:93284
6399	TRAPPC2	HP:0004594	Hump-shaped mound of bone in central and posterior portions of vertebral endplate	2/2	OMIM:313400
6399	TRAPPC2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6399	TRAPPC2	HP:0040161	Localized osteoporosis	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0000286	Epicanthus	1/7	OMIM:615777
6399	TRAPPC2	HP:0000280	Coarse facial features	2/7	OMIM:615777
6399	TRAPPC2	HP:0006467	Limited shoulder movement	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0007759	Opacification of the corneal stroma	-	OMIM:313400
6399	TRAPPC2	HP:0002812	Coxa vara	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0002812	Coxa vara	-	OMIM:313400
6399	TRAPPC2	HP:0002829	Arthralgia	HP:0040282	ORPHA:93284
6399	TRAPPC2	HP:0002829	Arthralgia	-	OMIM:313400
6399	TRAPPC2	HP:0002827	Hip dislocation	3/7	OMIM:615777
6399	TRAPPC2	HP:0005086	Knee osteoarthritis	HP:0040282	ORPHA:93284
6399	TRAPPC2	HP:0002808	Kyphosis	-	OMIM:313400
6399	TRAPPC2	HP:0000252	Microcephaly	-	OMIM:615777
6399	TRAPPC2	HP:0001552	Barrel-shaped chest	HP:0040281	ORPHA:93284
6399	TRAPPC2	HP:0001552	Barrel-shaped chest	2/2	OMIM:313400
6399	TRAPPC2	HP:0002857	Genu valgum	-	OMIM:131300
6399	TRAPPC2	HP:0001533	Slender build	-	OMIM:131300
6399	TRAPPC2	HP:0002866	Hypoplastic iliac wing	-	OMIM:313400
6399	TRAPPC2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93284
6399	TRAPPC2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6399	TRAPPC2	HP:0007807	Optic nerve compression	-	OMIM:131300
6399	TRAPPC2	HP:0012368	Flat face	7/7	OMIM:615777
6399	TRAPPC2	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6399	TRAPPC2	HP:0002938	Lumbar hyperlordosis	-	OMIM:313400
6399	TRAPPC2	HP:0002945	Intervertebral space narrowing	HP:0040282	ORPHA:93284
6399	TRAPPC2	HP:0002942	Thoracic kyphosis	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0000365	Hearing impairment	10/67	OMIM:131300
6399	TRAPPC2	HP:0000343	Long philtrum	1/7	OMIM:615777
6399	TRAPPC2	HP:0011001	Increased bone mineral density	HP:0040282	ORPHA:93284
6399	TRAPPC2	HP:0011001	Increased bone mineral density	-	OMIM:131300
6399	TRAPPC2	HP:0002996	Limited elbow movement	HP:0040283	ORPHA:93284
6399	TRAPPC2	HP:0000311	Round face	2/7	OMIM:615777
6399	TRAPPC2	HP:0002960	Autoimmunity	-	ORPHA:93284
6399	TRAPPC2	HP:0002970	Genu varum	-	OMIM:615777
6399	TRAPPC2	HP:0000303	Mandibular prognathia	-	OMIM:131300
6399	TRAPPC2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6399	TRAPPC2	HP:0000470	Short neck	HP:0040282	ORPHA:93284
6399	TRAPPC2	HP:0000470	Short neck	-	OMIM:313400
6399	TRAPPC2	HP:0000470	Short neck	1/7	OMIM:615777
6399	TRAPPC2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6399	TRAPPC2	HP:0001763	Pes planus	1/7	OMIM:615777
6399	TRAPPC2	HP:0001840	Metatarsus adductus	-	OMIM:615777
6399	TRAPPC2	HP:0000520	Proptosis	2/4	OMIM:131300
6399	TRAPPC2	HP:0000520	Proptosis	7/7	OMIM:615777
6399	TRAPPC2	HP:0000592	Blue sclerae	2/7	OMIM:615777
6399	TRAPPC2	HP:0000541	Retinal detachment	-	ORPHA:93284
6399	TRAPPC2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6399	TRAPPC2	HP:0012514	Lower limb pain	4/4	OMIM:131300
6418	SET	HP:0002465	Poor speech	-	OMIM:618106
6418	SET	HP:0001250	Seizure	1/5	OMIM:618106
6418	SET	HP:0001252	Hypotonia	1/5	OMIM:618106
6418	SET	HP:0001249	Intellectual disability	-	OMIM:618106
6418	SET	HP:0001263	Global developmental delay	5/5	OMIM:618106
6418	SET	HP:0007429	Few cafe-au-lait spots	1/5	OMIM:618106
6418	SET	HP:0002527	Falls	1/5	OMIM:618106
6418	SET	HP:0001382	Joint hypermobility	1/5	OMIM:618106
6418	SET	HP:0000023	Inguinal hernia	1/5	OMIM:618106
6418	SET	HP:0001348	Brisk reflexes	1/5	OMIM:618106
6418	SET	HP:0001357	Plagiocephaly	1/5	OMIM:618106
6418	SET	HP:0000006	Autosomal dominant inheritance	-	OMIM:618106
6418	SET	HP:0000176	Submucous cleft hard palate	1/5	OMIM:618106
6418	SET	HP:0000154	Wide mouth	1/5	OMIM:618106
6418	SET	HP:0008936	Axial hypotonia	1/5	OMIM:618106
6418	SET	HP:0011937	Hypoplastic fifth toenail	1/5	OMIM:618106
6418	SET	HP:0003593	Infantile onset	-	OMIM:618106
6418	SET	HP:0011968	Feeding difficulties	1/5	OMIM:618106
6418	SET	HP:0010808	Protruding tongue	1/5	OMIM:618106
6418	SET	HP:0002311	Incoordination	1/5	OMIM:618106
6418	SET	HP:0000678	Dental crowding	1/5	OMIM:618106
6418	SET	HP:0004322	Short stature	1/5	OMIM:618106
6418	SET	HP:0031936	Delayed ability to walk	-	OMIM:618106
6418	SET	HP:0000750	Delayed speech and language development	5/5	OMIM:618106
6418	SET	HP:0003186	Inverted nipples	1/5	OMIM:618106
6418	SET	HP:0000954	Single transverse palmar crease	1/5	OMIM:618106
6418	SET	HP:0000297	Facial hypotonia	1/5	OMIM:618106
6418	SET	HP:0000252	Microcephaly	-	OMIM:618106
6418	SET	HP:0000218	High palate	2/10	OMIM:618106
6418	SET	HP:0001611	Hypernasal speech	1/5	OMIM:618106
6418	SET	HP:0000358	Posteriorly rotated ears	1/5	OMIM:618106
6418	SET	HP:0000316	Hypertelorism	2/5	OMIM:618106
6418	SET	HP:0000331	Short chin	1/5	OMIM:618106
6418	SET	HP:0000324	Facial asymmetry	2/10	OMIM:618106
6418	SET	HP:0000307	Pointed chin	1/5	OMIM:618106
6418	SET	HP:0000400	Macrotia	-	OMIM:618106
6418	SET	HP:0000486	Strabismus	1/5	OMIM:618106
6418	SET	HP:0012471	Thick vermilion border	2/10	OMIM:618106
6418	SET	HP:0000494	Downslanted palpebral fissures	1/5	OMIM:618106
6418	SET	HP:0000455	Broad nasal tip	1/5	OMIM:618106
6418	SET	HP:0000431	Wide nasal bridge	1/5	OMIM:618106
6424	SFRP4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6424	SFRP4	HP:0001293	Cranial nerve compression	-	OMIM:131300
6424	SFRP4	HP:0001252	Hypotonia	2/7	OMIM:615777
6424	SFRP4	HP:0001249	Intellectual disability	5/7	OMIM:615777
6424	SFRP4	HP:0001263	Global developmental delay	-	OMIM:615777
6424	SFRP4	HP:0002515	Waddling gait	54/102	OMIM:131300
6424	SFRP4	HP:0001377	Limited elbow extension	-	OMIM:265900
6424	SFRP4	HP:0001382	Joint hypermobility	-	OMIM:615777
6424	SFRP4	HP:0002684	Thickened calvaria	-	OMIM:265900
6424	SFRP4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6424	SFRP4	HP:0002689	Absent paranasal sinuses	1/2	OMIM:265900
6424	SFRP4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6424	SFRP4	HP:0002659	Increased susceptibility to fractures	HP:0040282	ORPHA:3005
6424	SFRP4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6424	SFRP4	HP:0001324	Muscle weakness	-	OMIM:265900
6424	SFRP4	HP:0001324	Muscle weakness	40/96	OMIM:131300
6424	SFRP4	HP:0001324	Muscle weakness	HP:0040283	ORPHA:3005
6424	SFRP4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6424	SFRP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6424	SFRP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:265900
6424	SFRP4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6424	SFRP4	HP:0002650	Scoliosis	HP:0040283	ORPHA:3005
6424	SFRP4	HP:0002650	Scoliosis	-	OMIM:265900
6424	SFRP4	HP:0002650	Scoliosis	12/14	OMIM:131300
6424	SFRP4	HP:0002645	Wormian bones	HP:0040283	ORPHA:3005
6424	SFRP4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6424	SFRP4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6424	SFRP4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6424	SFRP4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6424	SFRP4	HP:0000175	Cleft palate	2/7	OMIM:615777
6424	SFRP4	HP:0006335	Persistence of primary teeth	1/4	OMIM:265900
6424	SFRP4	HP:0002753	Thin bony cortex	4/4	OMIM:265900
6424	SFRP4	HP:0002738	Hypoplastic frontal sinuses	-	OMIM:265900
6424	SFRP4	HP:0003388	Easy fatigability	36/76	OMIM:131300
6424	SFRP4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6424	SFRP4	HP:0003418	Back pain	HP:0040283	ORPHA:3005
6424	SFRP4	HP:0010539	Thin calvarium	HP:0040283	ORPHA:3005
6424	SFRP4	HP:0003581	Adult onset	1/4	OMIM:265900
6424	SFRP4	HP:0003510	Severe short stature	7/7	OMIM:615777
6424	SFRP4	HP:0002315	Headache	-	OMIM:131300
6424	SFRP4	HP:0004976	Knee dislocation	6/7	OMIM:615777
6424	SFRP4	HP:0004975	Erlenmeyer flask deformity of the femurs	HP:0040281	ORPHA:3005
6424	SFRP4	HP:0009803	Short phalanx of finger	-	OMIM:615777
6424	SFRP4	HP:0009763	Limb pain	63/92	OMIM:131300
6424	SFRP4	HP:0003621	Juvenile onset	2/4	OMIM:265900
6424	SFRP4	HP:0003621	Juvenile onset	-	OMIM:131300
6424	SFRP4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6424	SFRP4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6424	SFRP4	HP:6001056	Out-toeing	-	OMIM:131300
6424	SFRP4	HP:0000651	Diplopia	-	OMIM:131300
6424	SFRP4	HP:0001956	Truncal obesity	2/7	OMIM:615777
6424	SFRP4	HP:0001903	Anemia	HP:0040283	OMIM:131300
6424	SFRP4	HP:0010049	Short metacarpal	-	OMIM:615777
6424	SFRP4	HP:0000696	Delayed eruption of permanent teeth	HP:0040283	ORPHA:3005
6424	SFRP4	HP:0000684	Delayed eruption of teeth	1/4	OMIM:265900
6424	SFRP4	HP:0000678	Dental crowding	-	OMIM:615777
6424	SFRP4	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:3005
6424	SFRP4	HP:0000670	Carious teeth	-	OMIM:131300
6424	SFRP4	HP:0000670	Carious teeth	HP:0040282	ORPHA:3005
6424	SFRP4	HP:0000670	Carious teeth	-	OMIM:265900
6424	SFRP4	HP:0011304	Broad thumb	2/7	OMIM:615777
6424	SFRP4	HP:0000668	Hypodontia	-	OMIM:615777
6424	SFRP4	HP:0000664	Synophrys	-	OMIM:615777
6424	SFRP4	HP:0003051	Enlarged metaphyses	HP:0040282	ORPHA:3005
6424	SFRP4	HP:0004396	Poor appetite	-	OMIM:131300
6424	SFRP4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6424	SFRP4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6424	SFRP4	HP:0003016	Metaphyseal widening	4/4	OMIM:265900
6424	SFRP4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6424	SFRP4	HP:0003026	Short long bone	7/7	OMIM:615777
6424	SFRP4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6424	SFRP4	HP:0004349	Reduced bone mineral density	2/2	OMIM:265900
6424	SFRP4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6424	SFRP4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6424	SFRP4	HP:0000765	Abnormal thorax morphology	-	OMIM:265900
6424	SFRP4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6424	SFRP4	HP:0000750	Delayed speech and language development	-	OMIM:615777
6424	SFRP4	HP:0011463	Childhood onset	1/4	OMIM:265900
6424	SFRP4	HP:0011461	Fetal onset	7/7	OMIM:615777
6424	SFRP4	HP:0000774	Narrow chest	2/7	OMIM:615777
6424	SFRP4	HP:0000926	Platyspondyly	HP:0040283	ORPHA:3005
6424	SFRP4	HP:0000926	Platyspondyly	1/7	OMIM:615777
6424	SFRP4	HP:0000926	Platyspondyly	-	OMIM:265900
6424	SFRP4	HP:0003180	Flat acetabular roof	-	OMIM:615777
6424	SFRP4	HP:0004482	Relative macrocephaly	-	OMIM:615777
6424	SFRP4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6424	SFRP4	HP:0000823	Delayed puberty	-	OMIM:131300
6424	SFRP4	HP:0000894	Short clavicles	-	OMIM:615777
6424	SFRP4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6424	SFRP4	HP:0100255	Metaphyseal dysplasia	-	OMIM:265900
6424	SFRP4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6424	SFRP4	HP:0000286	Epicanthus	1/7	OMIM:615777
6424	SFRP4	HP:0000280	Coarse facial features	2/7	OMIM:615777
6424	SFRP4	HP:0002829	Arthralgia	HP:0040283	ORPHA:3005
6424	SFRP4	HP:0002829	Arthralgia	-	OMIM:265900
6424	SFRP4	HP:0002827	Hip dislocation	3/7	OMIM:615777
6424	SFRP4	HP:0000252	Microcephaly	-	OMIM:615777
6424	SFRP4	HP:0002857	Genu valgum	-	OMIM:131300
6424	SFRP4	HP:0002857	Genu valgum	HP:0040281	ORPHA:3005
6424	SFRP4	HP:0002857	Genu valgum	3/4	OMIM:265900
6424	SFRP4	HP:0001533	Slender build	-	OMIM:131300
6424	SFRP4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6424	SFRP4	HP:0007807	Optic nerve compression	-	OMIM:131300
6424	SFRP4	HP:0012368	Flat face	7/7	OMIM:615777
6424	SFRP4	HP:0006599	Medial widening of clavicles	HP:0040282	ORPHA:3005
6424	SFRP4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6424	SFRP4	HP:0000365	Hearing impairment	10/67	OMIM:131300
6424	SFRP4	HP:0000343	Long philtrum	1/7	OMIM:615777
6424	SFRP4	HP:0011001	Increased bone mineral density	-	OMIM:131300
6424	SFRP4	HP:0000311	Round face	2/7	OMIM:615777
6424	SFRP4	HP:0002970	Genu varum	-	OMIM:615777
6424	SFRP4	HP:0002967	Cubitus valgus	1/4	OMIM:265900
6424	SFRP4	HP:0000303	Mandibular prognathia	-	OMIM:131300
6424	SFRP4	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:3005
6424	SFRP4	HP:0000303	Mandibular prognathia	-	OMIM:265900
6424	SFRP4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6424	SFRP4	HP:0000470	Short neck	1/7	OMIM:615777
6424	SFRP4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6424	SFRP4	HP:0001763	Pes planus	1/7	OMIM:615777
6424	SFRP4	HP:0000411	Protruding ear	HP:0040282	ORPHA:3005
6424	SFRP4	HP:0005464	Craniofacial osteosclerosis	HP:0040282	ORPHA:3005
6424	SFRP4	HP:0001840	Metatarsus adductus	-	OMIM:615777
6424	SFRP4	HP:0000520	Proptosis	2/4	OMIM:131300
6424	SFRP4	HP:0000520	Proptosis	7/7	OMIM:615777
6424	SFRP4	HP:0000592	Blue sclerae	2/7	OMIM:615777
6424	SFRP4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6424	SFRP4	HP:0012514	Lower limb pain	4/4	OMIM:131300
6427	SRSF2	HP:0025142	Constitutional symptom	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0001279	Syncope	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0100845	Anaphylactic shock	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:98849
6427	SRSF2	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0002665	Lymphoma	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0002653	Bone pain	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0002653	Bone pain	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0002615	Hypotension	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0002615	Hypotension	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0012138	Granulocytic hyperplasia	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0002797	Osteolysis	HP:0040283	ORPHA:98850
6427	SRSF2	HP:0031284	Flushing	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0031284	Flushing	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:98850
6427	SRSF2	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0001410	Decreased liver function	HP:0040283	ORPHA:98850
6427	SRSF2	HP:0001409	Portal hypertension	HP:0040283	ORPHA:98850
6427	SRSF2	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0002024	Malabsorption	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0002018	Nausea	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0002027	Abdominal pain	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0002027	Abdominal pain	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0003326	Myalgia	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0002014	Diarrhea	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0002014	Diarrhea	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0002039	Anorexia	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0100494	Abnormal mast cell morphology	HP:0040281	ORPHA:98850
6427	SRSF2	HP:0100494	Abnormal mast cell morphology	HP:0040281	ORPHA:98849
6427	SRSF2	HP:0011897	Increased total neutrophil count	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:98850
6427	SRSF2	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0001025	Urticaria	HP:0040283	ORPHA:98850
6427	SRSF2	HP:0001025	Urticaria	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0002315	Headache	HP:0040282	ORPHA:98849
6427	SRSF2	HP:0032155	Abdominal cramps	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0031807	Increased total basophil count	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0005550	Chronic lymphatic leukemia	HP:0040284	ORPHA:98849
6427	SRSF2	HP:0005547	Myeloproliferative disorder	HP:0040282	ORPHA:98849
6427	SRSF2	HP:0001971	Hypersplenism	HP:0040283	ORPHA:98850
6427	SRSF2	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:98849
6427	SRSF2	HP:0001945	Fever	HP:0040282	ORPHA:98849
6427	SRSF2	HP:0001909	Leukemia	HP:0040283	ORPHA:98850
6427	SRSF2	HP:0001903	Anemia	HP:0040283	ORPHA:98850
6427	SRSF2	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0031901	Elevated total serum tryptase	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0031901	Elevated total serum tryptase	HP:0040281	ORPHA:98849
6427	SRSF2	HP:0004377	Hematological neoplasm	HP:0040283	ORPHA:98850
6427	SRSF2	HP:0004377	Hematological neoplasm	HP:0040281	ORPHA:98849
6427	SRSF2	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0000980	Pallor	HP:0040282	ORPHA:98849
6427	SRSF2	HP:0000989	Pruritus	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0000989	Pruritus	HP:0040282	ORPHA:98849
6427	SRSF2	HP:0000939	Osteoporosis	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0000939	Osteoporosis	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:98850
6427	SRSF2	HP:0040186	Maculopapular exanthema	HP:0040283	ORPHA:98850
6427	SRSF2	HP:0031408	Increased proportion of CD25+ mast cells	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0002829	Arthralgia	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0002829	Arthralgia	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0001541	Ascites	HP:0040283	ORPHA:98850
6427	SRSF2	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0012378	Fatigue	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0012378	Fatigue	HP:0040282	ORPHA:98849
6427	SRSF2	HP:0011034	Amyloidosis	HP:0040284	ORPHA:98849
6427	SRSF2	HP:0012324	Myeloid leukemia	HP:0040281	ORPHA:98849
6427	SRSF2	HP:0012325	Chronic myelomonocytic leukemia	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0001649	Tachycardia	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0011121	Abnormal skin morphology	HP:0040283	ORPHA:98850
6427	SRSF2	HP:0001744	Splenomegaly	HP:0040283	ORPHA:98849
6427	SRSF2	HP:0006775	Multiple myeloma	HP:0040284	ORPHA:98849
6427	SRSF2	HP:0001824	Weight loss	HP:0040282	ORPHA:98850
6427	SRSF2	HP:0001824	Weight loss	HP:0040282	ORPHA:98849
6427	SRSF2	HP:0001895	Normochromic anemia	HP:0040282	ORPHA:98849
6427	SRSF2	HP:0001897	Normocytic anemia	HP:0040282	ORPHA:98849
6427	SRSF2	HP:0001880	Increased total eosinophil count	HP:0040282	ORPHA:98849
6427	SRSF2	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:98850
6427	SRSF2	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:98849
6427	SRSF2	HP:0001876	Pancytopenia	HP:0040283	ORPHA:98850
6427	SRSF2	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:98850
6439	SFTPB	HP:0025179	Ground-glass opacification	12/15	OMIM:265120
6439	SFTPB	HP:0100806	Sepsis	HP:0040284	ORPHA:685082
6439	SFTPB	HP:0001217	Clubbing	-	OMIM:265120
6439	SFTPB	HP:0003811	Neonatal death	3/5	OMIM:265120
6439	SFTPB	HP:0000007	Autosomal recessive inheritance	-	OMIM:265120
6439	SFTPB	HP:0002643	Neonatal respiratory distress	-	OMIM:265120
6439	SFTPB	HP:0002643	Neonatal respiratory distress	HP:0040281	ORPHA:217563
6439	SFTPB	HP:0002615	Hypotension	HP:0040283	ORPHA:685082
6439	SFTPB	HP:0002789	Tachypnea	-	OMIM:265120
6439	SFTPB	HP:0002789	Tachypnea	HP:0040282	ORPHA:685082
6439	SFTPB	HP:0002789	Tachypnea	HP:0040281	ORPHA:217563
6439	SFTPB	HP:0033186	Misalignment of the pulmonary veins	1/3	OMIM:265120
6439	SFTPB	HP:0002094	Dyspnea	-	OMIM:265120
6439	SFTPB	HP:0002092	Pulmonary arterial hypertension	-	OMIM:265120
6439	SFTPB	HP:0002092	Pulmonary arterial hypertension	HP:0040282	ORPHA:217563
6439	SFTPB	HP:0002090	Pneumonia	HP:0040283	ORPHA:685082
6439	SFTPB	HP:0100598	Pulmonary edema	HP:0040282	ORPHA:685082
6439	SFTPB	HP:0005942	Desquamative interstitial pneumonitis	-	OMIM:265120
6439	SFTPB	HP:0002113	Pulmonary infiltrates	HP:0040282	ORPHA:217563
6439	SFTPB	HP:0002104	Apnea	3/5	OMIM:265120
6439	SFTPB	HP:0004876	Spontaneous neonatal pneumothorax	HP:0040283	ORPHA:217563
6439	SFTPB	HP:0100750	Atelectasis	HP:0040282	ORPHA:685082
6439	SFTPB	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:685082
6439	SFTPB	HP:0003623	Neonatal onset	5/5	OMIM:265120
6439	SFTPB	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:685082
6439	SFTPB	HP:0030863	Nasal flaring	HP:0040282	ORPHA:685082
6439	SFTPB	HP:0030879	Interlobular septal thickening	2/3	OMIM:265120
6439	SFTPB	HP:0000961	Cyanosis	-	OMIM:265120
6439	SFTPB	HP:0000961	Cyanosis	HP:0040282	ORPHA:685082
6439	SFTPB	HP:0002878	Respiratory failure	-	OMIM:265120
6439	SFTPB	HP:0002878	Respiratory failure	HP:0040282	ORPHA:685082
6439	SFTPB	HP:0001522	Death in infancy	12/15	OMIM:265120
6439	SFTPB	HP:0001508	Failure to thrive	-	OMIM:265120
6439	SFTPB	HP:0006528	Chronic lung disease	HP:0040283	ORPHA:217563
6439	SFTPB	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040281	ORPHA:217563
6439	SFTPB	HP:0006515	Interstitial pneumonitis	HP:0040283	ORPHA:217563
6439	SFTPB	HP:0006517	Intraalveolar phospholipid accumulation	5/5	OMIM:265120
6439	SFTPB	HP:0006517	Intraalveolar phospholipid accumulation	HP:0040281	ORPHA:217563
6439	SFTPB	HP:0001695	Cardiac arrest	HP:0040283	ORPHA:685082
6439	SFTPB	HP:0001667	Right ventricular hypertrophy	HP:0040283	ORPHA:217563
6439	SFTPB	HP:0031457	Pulmonary opacity	HP:0040282	ORPHA:217563
6439	SFTPB	HP:0001649	Tachycardia	HP:0040283	ORPHA:685082
6439	SFTPB	HP:0001662	Bradycardia	HP:0040283	ORPHA:685082
6439	SFTPB	HP:0001622	Premature birth	HP:0040282	ORPHA:685082
6439	SFTPB	HP:0032981	Absent bronchoalveolar dimeric surfactant-protein B	-	OMIM:265120
6439	SFTPB	HP:0012418	Hypoxemia	HP:0040281	ORPHA:685082
6440	SFTPC	HP:0025175	Honeycomb lung	HP:0040282	ORPHA:2032
6440	SFTPC	HP:0025179	Ground-glass opacification	HP:0040282	ORPHA:2032
6440	SFTPC	HP:0025179	Ground-glass opacification	6/6	OMIM:610913
6440	SFTPC	HP:0033584	Nonspecific interstitial pneumonia	8/11	OMIM:610913
6440	SFTPC	HP:0033542	Bronchial wall thickening	-	OMIM:610913
6440	SFTPC	HP:0100806	Sepsis	HP:0040284	ORPHA:685082
6440	SFTPC	HP:0001263	Global developmental delay	2/17	OMIM:610913
6440	SFTPC	HP:0001217	Clubbing	5/14	OMIM:610913
6440	SFTPC	HP:0033638	Intralobular septal thickening	2/6	OMIM:610913
6440	SFTPC	HP:0032341	Reduced forced vital capacity	HP:0040282	ORPHA:2032
6440	SFTPC	HP:0032341	Reduced forced vital capacity	-	OMIM:610913
6440	SFTPC	HP:0001394	Cirrhosis	-	OMIM:178500
6440	SFTPC	HP:0025394	Cystic pattern on pulmonary HRCT	6/6	OMIM:610913
6440	SFTPC	HP:0025390	Reticular pattern on pulmonary HRCT	HP:0040282	ORPHA:2032
6440	SFTPC	HP:0000006	Autosomal dominant inheritance	-	OMIM:178500
6440	SFTPC	HP:0000006	Autosomal dominant inheritance	-	OMIM:610913
6440	SFTPC	HP:0002615	Hypotension	HP:0040283	ORPHA:685082
6440	SFTPC	HP:0002789	Tachypnea	1/1	OMIM:610913
6440	SFTPC	HP:0002789	Tachypnea	HP:0040282	ORPHA:685082
6440	SFTPC	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2032
6440	SFTPC	HP:0002098	Respiratory distress	-	OMIM:610913
6440	SFTPC	HP:0002094	Dyspnea	-	OMIM:178500
6440	SFTPC	HP:0002094	Dyspnea	9/14	OMIM:610913
6440	SFTPC	HP:0002092	Pulmonary arterial hypertension	-	OMIM:178500
6440	SFTPC	HP:0002092	Pulmonary arterial hypertension	2/17	OMIM:610913
6440	SFTPC	HP:0002093	Respiratory insufficiency	1/1	OMIM:610913
6440	SFTPC	HP:0002090	Pneumonia	HP:0040283	ORPHA:685082
6440	SFTPC	HP:0010444	Pulmonic regurgitation	HP:0040283	ORPHA:2032
6440	SFTPC	HP:0100598	Pulmonary edema	HP:0040282	ORPHA:685082
6440	SFTPC	HP:0005942	Desquamative interstitial pneumonitis	3/11	OMIM:610913
6440	SFTPC	HP:0002110	Bronchiectasis	-	OMIM:610913
6440	SFTPC	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:2032
6440	SFTPC	HP:0002108	Spontaneous pneumothorax	3/17	OMIM:610913
6440	SFTPC	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:2032
6440	SFTPC	HP:0002206	Pulmonary fibrosis	11/15	OMIM:178500
6440	SFTPC	HP:0002206	Pulmonary fibrosis	1/17	OMIM:610913
6440	SFTPC	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:2032
6440	SFTPC	HP:0010702	Increased circulating immunoglobulin concentration	-	OMIM:178500
6440	SFTPC	HP:0100750	Atelectasis	HP:0040282	ORPHA:685082
6440	SFTPC	HP:0100759	Clubbing of fingers	HP:0040282	ORPHA:2032
6440	SFTPC	HP:0100759	Clubbing of fingers	50%	OMIM:178500
6440	SFTPC	HP:0033328	Type II pneumocyte hyperplasia	1/1	OMIM:610913
6440	SFTPC	HP:0033367	Orthodeoxia	HP:0040283	ORPHA:2032
6440	SFTPC	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:685082
6440	SFTPC	HP:0001063	Acrocyanosis	HP:0040282	ORPHA:2032
6440	SFTPC	HP:0031950	Usual interstitial pneumonia	HP:0040282	ORPHA:2032
6440	SFTPC	HP:0031950	Usual interstitial pneumonia	-	OMIM:178500
6440	SFTPC	HP:0012735	Cough	-	OMIM:178500
6440	SFTPC	HP:0012735	Cough	8/14	OMIM:610913
6440	SFTPC	HP:0012735	Cough	HP:0040282	ORPHA:2032
6440	SFTPC	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:685082
6440	SFTPC	HP:0030863	Nasal flaring	HP:0040282	ORPHA:685082
6440	SFTPC	HP:0045051	Decreased DLCO	-	OMIM:178500
6440	SFTPC	HP:0045051	Decreased DLCO	HP:0040282	ORPHA:2032
6440	SFTPC	HP:0045051	Decreased DLCO	-	OMIM:610913
6440	SFTPC	HP:0030830	Crackles	HP:0040282	ORPHA:2032
6440	SFTPC	HP:0000961	Cyanosis	1/1	OMIM:610913
6440	SFTPC	HP:0000961	Cyanosis	HP:0040282	ORPHA:685082
6440	SFTPC	HP:0002878	Respiratory failure	1/1	OMIM:610913
6440	SFTPC	HP:0002878	Respiratory failure	HP:0040282	ORPHA:685082
6440	SFTPC	HP:0002875	Exertional dyspnea	-	OMIM:178500
6440	SFTPC	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:2032
6440	SFTPC	HP:0001508	Failure to thrive	1/14	OMIM:610913
6440	SFTPC	HP:0012378	Fatigue	HP:0040282	ORPHA:2032
6440	SFTPC	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040281	ORPHA:2032
6440	SFTPC	HP:0006532	Recurrent pneumonia	17/17	OMIM:610913
6440	SFTPC	HP:0006515	Interstitial pneumonitis	-	OMIM:610913
6440	SFTPC	HP:0006517	Intraalveolar phospholipid accumulation	-	OMIM:610913
6440	SFTPC	HP:0006519	Alveolar cell carcinoma	-	OMIM:178500
6440	SFTPC	HP:0001695	Cardiac arrest	HP:0040283	ORPHA:685082
6440	SFTPC	HP:0001649	Tachycardia	HP:0040283	ORPHA:685082
6440	SFTPC	HP:0001662	Bradycardia	HP:0040283	ORPHA:685082
6440	SFTPC	HP:0001622	Premature birth	HP:0040282	ORPHA:685082
6440	SFTPC	HP:0031631	Subpleural honeycombing	HP:0040282	ORPHA:2032
6440	SFTPC	HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion	-	OMIM:178500
6440	SFTPC	HP:0032980	Absent bronchoalveolar surfactant-protein C	2/2	OMIM:610913
6440	SFTPC	HP:0012418	Hypoxemia	17/17	OMIM:610913
6440	SFTPC	HP:0012418	Hypoxemia	HP:0040281	ORPHA:685082
6442	SGCA	HP:0003797	Limb-girdle muscle atrophy	-	OMIM:608099
6442	SGCA	HP:0003707	Calf muscle pseudohypertrophy	HP:0040282	ORPHA:62
6442	SGCA	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:62
6442	SGCA	HP:0003701	Proximal muscle weakness	1/1	OMIM:608099
6442	SGCA	HP:0003713	Muscle fiber necrosis	4/4	OMIM:608099
6442	SGCA	HP:0002515	Waddling gait	HP:0040282	ORPHA:62
6442	SGCA	HP:0001371	Flexion contracture	-	OMIM:608099
6442	SGCA	HP:0000007	Autosomal recessive inheritance	-	OMIM:608099
6442	SGCA	HP:0002650	Scoliosis	HP:0040283	OMIM:608099
6442	SGCA	HP:0008981	Calf muscle hypertrophy	5/5	OMIM:608099
6442	SGCA	HP:0003325	Limb-girdle muscle weakness	4/4	OMIM:608099
6442	SGCA	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:62
6442	SGCA	HP:0003391	Gowers sign	HP:0040282	ORPHA:62
6442	SGCA	HP:0003391	Gowers sign	1/1	OMIM:608099
6442	SGCA	HP:0003458	EMG: myopathic abnormalities	1/1	OMIM:608099
6442	SGCA	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:62
6442	SGCA	HP:0003560	Muscular dystrophy	HP:0040282	ORPHA:62
6442	SGCA	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:608099
6442	SGCA	HP:0003691	Scapular winging	1/1	OMIM:608099
6442	SGCA	HP:0003691	Scapular winging	HP:0040282	ORPHA:62
6442	SGCA	HP:0002359	Frequent falls	HP:0040282	ORPHA:62
6442	SGCA	HP:0003676	Progressive	-	OMIM:608099
6442	SGCA	HP:0002317	Unsteady gait	-	OMIM:608099
6442	SGCA	HP:0003621	Juvenile onset	5/5	OMIM:608099
6442	SGCA	HP:0003236	Elevated circulating creatine kinase concentration	5/5	OMIM:608099
6442	SGCA	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:62
6442	SGCA	HP:0100297	Increased endomysial connective tissue	1/1	OMIM:608099
6442	SGCA	HP:0006466	Ankle flexion contracture	1/1	OMIM:608099
6442	SGCA	HP:0006467	Limited shoulder movement	HP:0040282	ORPHA:62
6442	SGCA	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:62
6442	SGCA	HP:0002943	Thoracic scoliosis	HP:0040283	ORPHA:62
6442	SGCA	HP:0001644	Dilated cardiomyopathy	1/1	OMIM:608099
6442	SGCA	HP:0001635	Congestive heart failure	1/1	OMIM:608099
6442	SGCA	HP:0001638	Cardiomyopathy	1/1	OMIM:608099
6442	SGCA	HP:0001771	Achilles tendon contracture	HP:0040282	ORPHA:62
6442	SGCA	HP:0006785	Limb-girdle muscular dystrophy	-	OMIM:608099
6443	SGCB	HP:0003749	Pelvic girdle muscle weakness	HP:0040282	ORPHA:119
6443	SGCB	HP:0003724	Shoulder girdle muscle atrophy	-	OMIM:604286
6443	SGCB	HP:0003707	Calf muscle pseudohypertrophy	2/7	OMIM:604286
6443	SGCB	HP:0001288	Gait disturbance	HP:0040282	ORPHA:119
6443	SGCB	HP:0002515	Waddling gait	HP:0040282	ORPHA:119
6443	SGCB	HP:0002505	Loss of ambulation	7/7	OMIM:604286
6443	SGCB	HP:0000007	Autosomal recessive inheritance	-	OMIM:604286
6443	SGCB	HP:0008981	Calf muscle hypertrophy	HP:0040282	ORPHA:119
6443	SGCB	HP:0008988	Pelvic girdle muscle atrophy	-	OMIM:604286
6443	SGCB	HP:0003325	Limb-girdle muscle weakness	-	OMIM:604286
6443	SGCB	HP:0003391	Gowers sign	HP:0040282	ORPHA:119
6443	SGCB	HP:0002058	Myopathic facies	HP:0040282	ORPHA:119
6443	SGCB	HP:0002136	Broad-based gait	HP:0040282	ORPHA:119
6443	SGCB	HP:0003560	Muscular dystrophy	-	OMIM:604286
6443	SGCB	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:119
6443	SGCB	HP:0003691	Scapular winging	-	OMIM:604286
6443	SGCB	HP:0007126	Proximal amyotrophy	-	OMIM:604286
6443	SGCB	HP:0003621	Juvenile onset	7/7	OMIM:604286
6443	SGCB	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:119
6443	SGCB	HP:0003198	Myopathy	HP:0040282	ORPHA:119
6443	SGCB	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:119
6443	SGCB	HP:0003236	Elevated circulating creatine kinase concentration	6/6	OMIM:604286
6443	SGCB	HP:0002913	Myoglobinuria	HP:0040283	ORPHA:119
6443	SGCB	HP:0001644	Dilated cardiomyopathy	HP:0040283	OMIM:604286
6443	SGCB	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:119
6444	SGCD	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
6444	SGCD	HP:0003701	Proximal muscle weakness	1/1	OMIM:601287
6444	SGCD	HP:0001288	Gait disturbance	2/2	OMIM:601287
6444	SGCD	HP:0000007	Autosomal recessive inheritance	-	OMIM:601287
6444	SGCD	HP:0000006	Autosomal dominant inheritance	-	OMIM:606685
6444	SGCD	HP:0033755	Increased left ventricular end-diastolic volume	5/5	OMIM:606685
6444	SGCD	HP:0008981	Calf muscle hypertrophy	-	OMIM:601287
6444	SGCD	HP:0008948	Proximal upper limb amyotrophy	HP:0040282	ORPHA:219
6444	SGCD	HP:0008956	Proximal lower limb amyotrophy	HP:0040282	ORPHA:219
6444	SGCD	HP:0003391	Gowers sign	-	OMIM:601287
6444	SGCD	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
6444	SGCD	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
6444	SGCD	HP:0003593	Infantile onset	1/7	OMIM:606685
6444	SGCD	HP:0003551	Difficulty climbing stairs	2/2	OMIM:601287
6444	SGCD	HP:0003560	Muscular dystrophy	-	OMIM:601287
6444	SGCD	HP:0010628	Facial palsy	HP:0040282	ORPHA:219
6444	SGCD	HP:0002362	Shuffling gait	HP:0040282	ORPHA:219
6444	SGCD	HP:0003691	Scapular winging	1/1	OMIM:601287
6444	SGCD	HP:0003691	Scapular winging	HP:0040282	ORPHA:219
6444	SGCD	HP:0007126	Proximal amyotrophy	1/1	OMIM:601287
6444	SGCD	HP:0003621	Juvenile onset	2/7	OMIM:606685
6444	SGCD	HP:0009055	Generalized limb muscle atrophy	HP:0040282	ORPHA:219
6444	SGCD	HP:0012664	Reduced left ventricular ejection fraction	5/5	OMIM:606685
6444	SGCD	HP:0011463	Childhood onset	2/2	OMIM:601287
6444	SGCD	HP:0011462	Young adult onset	4/7	OMIM:606685
6444	SGCD	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
6444	SGCD	HP:0003198	Myopathy	HP:0040283	ORPHA:154
6444	SGCD	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:601287
6444	SGCD	HP:0003236	Elevated circulating creatine kinase concentration	0/3	OMIM:606685
6444	SGCD	HP:0000969	Edema	HP:0040282	ORPHA:154
6444	SGCD	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
6444	SGCD	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
6444	SGCD	HP:0012378	Fatigue	HP:0040282	ORPHA:154
6444	SGCD	HP:0001645	Sudden cardiac death	4/7	OMIM:606685
6444	SGCD	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
6444	SGCD	HP:0001644	Dilated cardiomyopathy	-	OMIM:606685
6444	SGCD	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
6444	SGCD	HP:0001635	Congestive heart failure	7/7	OMIM:606685
6444	SGCD	HP:0006673	Reduced systolic function	-	OMIM:606685
6444	SGCD	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
6444	SGCD	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
6444	SGCD	HP:0001714	Ventricular hypertrophy	-	OMIM:601287
6445	SGCG	HP:0025169	Left ventricular systolic dysfunction	HP:0040283	ORPHA:353
6445	SGCG	HP:0003730	EMG: myotonic runs	HP:0040282	ORPHA:353
6445	SGCG	HP:0003722	Neck flexor weakness	HP:0040283	ORPHA:353
6445	SGCG	HP:0003707	Calf muscle pseudohypertrophy	HP:0040282	ORPHA:353
6445	SGCG	HP:0003707	Calf muscle pseudohypertrophy	2/20	OMIM:253700
6445	SGCG	HP:0003713	Muscle fiber necrosis	-	OMIM:253700
6445	SGCG	HP:0002515	Waddling gait	HP:0040282	ORPHA:353
6445	SGCG	HP:0002505	Loss of ambulation	20/20	OMIM:253700
6445	SGCG	HP:0003803	Type 1 muscle fiber predominance	1/1	OMIM:253700
6445	SGCG	HP:0001371	Flexion contracture	-	OMIM:253700
6445	SGCG	HP:0000007	Autosomal recessive inheritance	-	OMIM:253700
6445	SGCG	HP:0002650	Scoliosis	HP:0040283	ORPHA:353
6445	SGCG	HP:0002650	Scoliosis	1/20	OMIM:253700
6445	SGCG	HP:0000158	Macroglossia	HP:0040282	ORPHA:353
6445	SGCG	HP:0008981	Calf muscle hypertrophy	HP:0040282	ORPHA:353
6445	SGCG	HP:0003307	Hyperlordosis	-	OMIM:253700
6445	SGCG	HP:0002090	Pneumonia	5/20	OMIM:253700
6445	SGCG	HP:0002091	Restrictive ventilatory defect	5/5	OMIM:253700
6445	SGCG	HP:0003391	Gowers sign	HP:0040283	ORPHA:353
6445	SGCG	HP:0003391	Gowers sign	-	OMIM:253700
6445	SGCG	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:353
6445	SGCG	HP:0002136	Broad-based gait	HP:0040282	ORPHA:353
6445	SGCG	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:353
6445	SGCG	HP:0003555	Muscle fiber splitting	1/1	OMIM:253700
6445	SGCG	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:353
6445	SGCG	HP:0003560	Muscular dystrophy	-	OMIM:253700
6445	SGCG	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:253700
6445	SGCG	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:353
6445	SGCG	HP:0003691	Scapular winging	HP:0040282	ORPHA:353
6445	SGCG	HP:0002359	Frequent falls	HP:0040282	ORPHA:353
6445	SGCG	HP:0003678	Rapidly progressive	-	OMIM:253700
6445	SGCG	HP:0003621	Juvenile onset	3/20	OMIM:253700
6445	SGCG	HP:0009046	Difficulty running	HP:0040282	ORPHA:353
6445	SGCG	HP:0004311	Abnormal macrophage morphology	HP:0040282	ORPHA:353
6445	SGCG	HP:0011463	Childhood onset	17/20	OMIM:253700
6445	SGCG	HP:0003236	Elevated circulating creatine kinase concentration	1/20	OMIM:253700
6445	SGCG	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:353
6445	SGCG	HP:0003202	Skeletal muscle atrophy	20/20	OMIM:253700
6445	SGCG	HP:0100284	EMG: myotonic discharges	HP:0040282	ORPHA:353
6445	SGCG	HP:0100297	Increased endomysial connective tissue	HP:0040282	ORPHA:353
6445	SGCG	HP:0100297	Increased endomysial connective tissue	1/1	OMIM:253700
6445	SGCG	HP:0000276	Long face	HP:0040283	ORPHA:353
6445	SGCG	HP:0005133	Right ventricular dilatation	0/5	OMIM:253700
6445	SGCG	HP:0030007	EMG: positive sharp waves	HP:0040282	ORPHA:353
6445	SGCG	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:353
6445	SGCG	HP:0002938	Lumbar hyperlordosis	HP:0040282	ORPHA:353
6445	SGCG	HP:0001667	Right ventricular hypertrophy	HP:0040282	ORPHA:353
6445	SGCG	HP:0001667	Right ventricular hypertrophy	0/5	OMIM:253700
6445	SGCG	HP:0001771	Achilles tendon contracture	HP:0040283	ORPHA:353
6448	SGSH	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6448	SGSH	HP:0001293	Cranial nerve compression	-	OMIM:131300
6448	SGSH	HP:0001250	Seizure	53/80	OMIM:252900
6448	SGSH	HP:0001252	Hypotonia	2/7	OMIM:615777
6448	SGSH	HP:0001249	Intellectual disability	-	OMIM:252900
6448	SGSH	HP:0001249	Intellectual disability	5/7	OMIM:615777
6448	SGSH	HP:0001263	Global developmental delay	72/76	OMIM:252900
6448	SGSH	HP:0001263	Global developmental delay	-	OMIM:615777
6448	SGSH	HP:0002515	Waddling gait	54/102	OMIM:131300
6448	SGSH	HP:0001387	Joint stiffness	-	OMIM:252900
6448	SGSH	HP:0001382	Joint hypermobility	-	OMIM:615777
6448	SGSH	HP:0000023	Inguinal hernia	26/53	OMIM:252900
6448	SGSH	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6448	SGSH	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6448	SGSH	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6448	SGSH	HP:0001324	Muscle weakness	40/96	OMIM:131300
6448	SGSH	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6448	SGSH	HP:0000007	Autosomal recessive inheritance	-	OMIM:252900
6448	SGSH	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6448	SGSH	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6448	SGSH	HP:0002650	Scoliosis	10/110	OMIM:252900
6448	SGSH	HP:0002650	Scoliosis	12/14	OMIM:131300
6448	SGSH	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6448	SGSH	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6448	SGSH	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6448	SGSH	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6448	SGSH	HP:0000175	Cleft palate	2/7	OMIM:615777
6448	SGSH	HP:0002788	Recurrent upper respiratory tract infections	61/70	OMIM:252900
6448	SGSH	HP:0002014	Diarrhea	59/72	OMIM:252900
6448	SGSH	HP:0003309	Ovoid thoracolumbar vertebrae	-	OMIM:252900
6448	SGSH	HP:0003388	Easy fatigability	36/76	OMIM:131300
6448	SGSH	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6448	SGSH	HP:0002159	Heparan sulfate excretion in urine	-	OMIM:252900
6448	SGSH	HP:0002240	Hepatomegaly	10/110	OMIM:252900
6448	SGSH	HP:0002208	Coarse hair	-	OMIM:252900
6448	SGSH	HP:0003510	Severe short stature	7/7	OMIM:615777
6448	SGSH	HP:0002360	Sleep abnormality	76/79	OMIM:252900
6448	SGSH	HP:0001007	Hirsutism	-	OMIM:252900
6448	SGSH	HP:0002315	Headache	-	OMIM:131300
6448	SGSH	HP:0004976	Knee dislocation	6/7	OMIM:615777
6448	SGSH	HP:0009803	Short phalanx of finger	-	OMIM:615777
6448	SGSH	HP:0009763	Limb pain	63/92	OMIM:131300
6448	SGSH	HP:0003621	Juvenile onset	-	OMIM:131300
6448	SGSH	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6448	SGSH	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6448	SGSH	HP:6001056	Out-toeing	-	OMIM:131300
6448	SGSH	HP:0000651	Diplopia	-	OMIM:131300
6448	SGSH	HP:0001956	Truncal obesity	2/7	OMIM:615777
6448	SGSH	HP:0001903	Anemia	HP:0040283	OMIM:131300
6448	SGSH	HP:0010049	Short metacarpal	-	OMIM:615777
6448	SGSH	HP:0000678	Dental crowding	-	OMIM:615777
6448	SGSH	HP:0000670	Carious teeth	-	OMIM:131300
6448	SGSH	HP:0011304	Broad thumb	2/7	OMIM:615777
6448	SGSH	HP:0000668	Hypodontia	-	OMIM:615777
6448	SGSH	HP:0000664	Synophrys	-	OMIM:252900
6448	SGSH	HP:0000664	Synophrys	-	OMIM:615777
6448	SGSH	HP:0004396	Poor appetite	-	OMIM:131300
6448	SGSH	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6448	SGSH	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6448	SGSH	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6448	SGSH	HP:0003026	Short long bone	7/7	OMIM:615777
6448	SGSH	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6448	SGSH	HP:0000752	Hyperactivity	-	OMIM:252900
6448	SGSH	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6448	SGSH	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6448	SGSH	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6448	SGSH	HP:0000750	Delayed speech and language development	-	OMIM:615777
6448	SGSH	HP:0011463	Childhood onset	-	OMIM:252900
6448	SGSH	HP:0011461	Fetal onset	7/7	OMIM:615777
6448	SGSH	HP:0000774	Narrow chest	2/7	OMIM:615777
6448	SGSH	HP:0000926	Platyspondyly	1/7	OMIM:615777
6448	SGSH	HP:0003180	Flat acetabular roof	-	OMIM:615777
6448	SGSH	HP:0000900	Thickened ribs	-	OMIM:252900
6448	SGSH	HP:0004482	Relative macrocephaly	-	OMIM:615777
6448	SGSH	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6448	SGSH	HP:0000823	Delayed puberty	-	OMIM:131300
6448	SGSH	HP:0000894	Short clavicles	-	OMIM:615777
6448	SGSH	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6448	SGSH	HP:4000193	Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity	-	OMIM:252900
6448	SGSH	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6448	SGSH	HP:0000943	Dysostosis multiplex	-	OMIM:252900
6448	SGSH	HP:0000286	Epicanthus	1/7	OMIM:615777
6448	SGSH	HP:0000280	Coarse facial features	-	OMIM:252900
6448	SGSH	HP:0000280	Coarse facial features	2/7	OMIM:615777
6448	SGSH	HP:0002827	Hip dislocation	3/7	OMIM:615777
6448	SGSH	HP:0000252	Microcephaly	-	OMIM:615777
6448	SGSH	HP:0000250	Dense calvaria	-	OMIM:252900
6448	SGSH	HP:0002857	Genu valgum	-	OMIM:131300
6448	SGSH	HP:0001537	Umbilical hernia	15/45	OMIM:252900
6448	SGSH	HP:0001533	Slender build	-	OMIM:131300
6448	SGSH	HP:0001507	Growth abnormality	-	OMIM:252900
6448	SGSH	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6448	SGSH	HP:0007807	Optic nerve compression	-	OMIM:131300
6448	SGSH	HP:0012368	Flat face	7/7	OMIM:615777
6448	SGSH	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6448	SGSH	HP:0000365	Hearing impairment	27/73	OMIM:252900
6448	SGSH	HP:0000365	Hearing impairment	10/67	OMIM:131300
6448	SGSH	HP:0000343	Long philtrum	1/7	OMIM:615777
6448	SGSH	HP:0001670	Asymmetric septal hypertrophy	-	OMIM:252900
6448	SGSH	HP:0011001	Increased bone mineral density	-	OMIM:131300
6448	SGSH	HP:0000311	Round face	2/7	OMIM:615777
6448	SGSH	HP:0002970	Genu varum	-	OMIM:615777
6448	SGSH	HP:0000303	Mandibular prognathia	-	OMIM:131300
6448	SGSH	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6448	SGSH	HP:0000470	Short neck	1/7	OMIM:615777
6448	SGSH	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6448	SGSH	HP:0001763	Pes planus	1/7	OMIM:615777
6448	SGSH	HP:0001744	Splenomegaly	2/110	OMIM:252900
6448	SGSH	HP:0001840	Metatarsus adductus	-	OMIM:615777
6448	SGSH	HP:0000520	Proptosis	2/4	OMIM:131300
6448	SGSH	HP:0000520	Proptosis	7/7	OMIM:615777
6448	SGSH	HP:0000592	Blue sclerae	2/7	OMIM:615777
6448	SGSH	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6448	SGSH	HP:0012514	Lower limb pain	4/4	OMIM:131300
6452	SH3BP2	HP:0001133	Constriction of peripheral visual field	-	OMIM:118400
6452	SH3BP2	HP:0001138	Optic neuropathy	-	OMIM:118400
6452	SH3BP2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6452	SH3BP2	HP:0001293	Cranial nerve compression	-	OMIM:131300
6452	SH3BP2	HP:0001252	Hypotonia	2/7	OMIM:615777
6452	SH3BP2	HP:0001249	Intellectual disability	5/7	OMIM:615777
6452	SH3BP2	HP:0001263	Global developmental delay	-	OMIM:615777
6452	SH3BP2	HP:0002515	Waddling gait	54/102	OMIM:131300
6452	SH3BP2	HP:6000715	Central giant cell lesion of the jaw	1/1	OMIM:118400
6452	SH3BP2	HP:0012062	Bone cyst	HP:0040281	ORPHA:184
6452	SH3BP2	HP:0001382	Joint hypermobility	-	OMIM:615777
6452	SH3BP2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6452	SH3BP2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6452	SH3BP2	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:184
6452	SH3BP2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6452	SH3BP2	HP:0001324	Muscle weakness	40/96	OMIM:131300
6452	SH3BP2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6452	SH3BP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6452	SH3BP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:118400
6452	SH3BP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6452	SH3BP2	HP:0002650	Scoliosis	12/14	OMIM:131300
6452	SH3BP2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6452	SH3BP2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6452	SH3BP2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6452	SH3BP2	HP:0000189	Narrow palate	-	OMIM:118400
6452	SH3BP2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6452	SH3BP2	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:184
6452	SH3BP2	HP:0000175	Cleft palate	2/7	OMIM:615777
6452	SH3BP2	HP:0007663	Reduced visual acuity	-	OMIM:118400
6452	SH3BP2	HP:0002781	Upper airway obstruction	HP:0040283	ORPHA:184
6452	SH3BP2	HP:0033176	Submandibular lymph node enlargement	10/24	OMIM:118400
6452	SH3BP2	HP:0003388	Easy fatigability	36/76	OMIM:131300
6452	SH3BP2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6452	SH3BP2	HP:0003510	Severe short stature	7/7	OMIM:615777
6452	SH3BP2	HP:0002315	Headache	-	OMIM:131300
6452	SH3BP2	HP:0004976	Knee dislocation	6/7	OMIM:615777
6452	SH3BP2	HP:0009803	Short phalanx of finger	-	OMIM:615777
6452	SH3BP2	HP:0200057	Marcus Gunn pupil	-	OMIM:118400
6452	SH3BP2	HP:0200056	Macular scar	-	OMIM:118400
6452	SH3BP2	HP:0009763	Limb pain	63/92	OMIM:131300
6452	SH3BP2	HP:0003621	Juvenile onset	17/24	OMIM:118400
6452	SH3BP2	HP:0003621	Juvenile onset	-	OMIM:131300
6452	SH3BP2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6452	SH3BP2	HP:0009085	Alveolar ridge overgrowth	-	OMIM:118400
6452	SH3BP2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6452	SH3BP2	HP:6001056	Out-toeing	-	OMIM:131300
6452	SH3BP2	HP:0000651	Diplopia	-	OMIM:131300
6452	SH3BP2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:184
6452	SH3BP2	HP:0001956	Truncal obesity	2/7	OMIM:615777
6452	SH3BP2	HP:0001903	Anemia	HP:0040283	OMIM:131300
6452	SH3BP2	HP:0010049	Short metacarpal	-	OMIM:615777
6452	SH3BP2	HP:0000678	Dental crowding	-	OMIM:615777
6452	SH3BP2	HP:0000677	Oligodontia	HP:0040282	ORPHA:184
6452	SH3BP2	HP:0000677	Oligodontia	-	OMIM:118400
6452	SH3BP2	HP:0000689	Dental malocclusion	-	OMIM:118400
6452	SH3BP2	HP:0000670	Carious teeth	-	OMIM:131300
6452	SH3BP2	HP:0011304	Broad thumb	2/7	OMIM:615777
6452	SH3BP2	HP:0000668	Hypodontia	-	OMIM:615777
6452	SH3BP2	HP:0000664	Synophrys	-	OMIM:615777
6452	SH3BP2	HP:0004396	Poor appetite	-	OMIM:131300
6452	SH3BP2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6452	SH3BP2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6452	SH3BP2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6452	SH3BP2	HP:0003026	Short long bone	7/7	OMIM:615777
6452	SH3BP2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6452	SH3BP2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6452	SH3BP2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6452	SH3BP2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6452	SH3BP2	HP:0000750	Delayed speech and language development	-	OMIM:615777
6452	SH3BP2	HP:0011463	Childhood onset	4/24	OMIM:118400
6452	SH3BP2	HP:0011462	Young adult onset	3/24	OMIM:118400
6452	SH3BP2	HP:0011461	Fetal onset	7/7	OMIM:615777
6452	SH3BP2	HP:0000774	Narrow chest	2/7	OMIM:615777
6452	SH3BP2	HP:0030793	Jaw swelling	20/24	OMIM:118400
6452	SH3BP2	HP:0000926	Platyspondyly	1/7	OMIM:615777
6452	SH3BP2	HP:0003180	Flat acetabular roof	-	OMIM:615777
6452	SH3BP2	HP:0004482	Relative macrocephaly	-	OMIM:615777
6452	SH3BP2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6452	SH3BP2	HP:0012802	Broad jaw	HP:0040281	ORPHA:184
6452	SH3BP2	HP:0000823	Delayed puberty	-	OMIM:131300
6452	SH3BP2	HP:0000894	Short clavicles	-	OMIM:615777
6452	SH3BP2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6452	SH3BP2	HP:0030802	Lower eyelid retraction	3/24	OMIM:118400
6452	SH3BP2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6452	SH3BP2	HP:0000286	Epicanthus	1/7	OMIM:615777
6452	SH3BP2	HP:0000280	Coarse facial features	2/7	OMIM:615777
6452	SH3BP2	HP:0000293	Full cheeks	HP:0040281	ORPHA:184
6452	SH3BP2	HP:0000277	Abnormal mandible morphology	HP:0040281	ORPHA:184
6452	SH3BP2	HP:0002827	Hip dislocation	3/7	OMIM:615777
6452	SH3BP2	HP:0001571	Multiple impacted teeth	-	OMIM:118400
6452	SH3BP2	HP:0000252	Microcephaly	-	OMIM:615777
6452	SH3BP2	HP:0002857	Genu valgum	-	OMIM:131300
6452	SH3BP2	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:184
6452	SH3BP2	HP:0001533	Slender build	-	OMIM:131300
6452	SH3BP2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6452	SH3BP2	HP:0007807	Optic nerve compression	-	OMIM:131300
6452	SH3BP2	HP:0012368	Flat face	7/7	OMIM:615777
6452	SH3BP2	HP:0001608	Abnormality of the voice	HP:0040283	ORPHA:184
6452	SH3BP2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6452	SH3BP2	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:184
6452	SH3BP2	HP:0000365	Hearing impairment	10/67	OMIM:131300
6452	SH3BP2	HP:0000343	Long philtrum	1/7	OMIM:615777
6452	SH3BP2	HP:0011001	Increased bone mineral density	-	OMIM:131300
6452	SH3BP2	HP:0000311	Round face	19/24	OMIM:118400
6452	SH3BP2	HP:0000311	Round face	2/7	OMIM:615777
6452	SH3BP2	HP:0002970	Genu varum	-	OMIM:615777
6452	SH3BP2	HP:0000303	Mandibular prognathia	-	OMIM:131300
6452	SH3BP2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6452	SH3BP2	HP:0000470	Short neck	1/7	OMIM:615777
6452	SH3BP2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6452	SH3BP2	HP:0001763	Pes planus	1/7	OMIM:615777
6452	SH3BP2	HP:0001840	Metatarsus adductus	-	OMIM:615777
6452	SH3BP2	HP:0000529	Progressive visual loss	HP:0040283	ORPHA:184
6452	SH3BP2	HP:0000520	Proptosis	-	OMIM:118400
6452	SH3BP2	HP:0000520	Proptosis	2/4	OMIM:131300
6452	SH3BP2	HP:0000520	Proptosis	7/7	OMIM:615777
6452	SH3BP2	HP:0000520	Proptosis	HP:0040283	ORPHA:184
6452	SH3BP2	HP:0000505	Visual impairment	-	OMIM:118400
6452	SH3BP2	HP:0000505	Visual impairment	HP:0040283	ORPHA:184
6452	SH3BP2	HP:0000592	Blue sclerae	2/7	OMIM:615777
6452	SH3BP2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6452	SH3BP2	HP:0012514	Lower limb pain	4/4	OMIM:131300
6455	SH3GL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:601626
6455	SH3GL1	HP:0001442	Typified by somatic mosaicism	-	OMIM:601626
6455	SH3GL1	HP:0004808	Acute myeloid leukemia	-	OMIM:601626
6468	FBXW4	HP:0001171	Split hand	HP:0040283	ORPHA:2440
6468	FBXW4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6468	FBXW4	HP:0001293	Cranial nerve compression	-	OMIM:131300
6468	FBXW4	HP:0001252	Hypotonia	2/7	OMIM:615777
6468	FBXW4	HP:0001249	Intellectual disability	5/7	OMIM:615777
6468	FBXW4	HP:0001263	Global developmental delay	-	OMIM:615777
6468	FBXW4	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:2440
6468	FBXW4	HP:0002515	Waddling gait	54/102	OMIM:131300
6468	FBXW4	HP:0001382	Joint hypermobility	-	OMIM:615777
6468	FBXW4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6468	FBXW4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6468	FBXW4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6468	FBXW4	HP:0001324	Muscle weakness	40/96	OMIM:131300
6468	FBXW4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6468	FBXW4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6468	FBXW4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6468	FBXW4	HP:0002650	Scoliosis	12/14	OMIM:131300
6468	FBXW4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6468	FBXW4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6468	FBXW4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6468	FBXW4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6468	FBXW4	HP:0012165	Oligodactyly	HP:0040281	ORPHA:2440
6468	FBXW4	HP:0000175	Cleft palate	2/7	OMIM:615777
6468	FBXW4	HP:0003388	Easy fatigability	36/76	OMIM:131300
6468	FBXW4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6468	FBXW4	HP:0003510	Severe short stature	7/7	OMIM:615777
6468	FBXW4	HP:0002315	Headache	-	OMIM:131300
6468	FBXW4	HP:0004976	Knee dislocation	6/7	OMIM:615777
6468	FBXW4	HP:0009803	Short phalanx of finger	-	OMIM:615777
6468	FBXW4	HP:0009763	Limb pain	63/92	OMIM:131300
6468	FBXW4	HP:0003621	Juvenile onset	-	OMIM:131300
6468	FBXW4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6468	FBXW4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6468	FBXW4	HP:6001056	Out-toeing	-	OMIM:131300
6468	FBXW4	HP:0000651	Diplopia	-	OMIM:131300
6468	FBXW4	HP:0001956	Truncal obesity	2/7	OMIM:615777
6468	FBXW4	HP:0001903	Anemia	HP:0040283	OMIM:131300
6468	FBXW4	HP:0010049	Short metacarpal	-	OMIM:615777
6468	FBXW4	HP:0000678	Dental crowding	-	OMIM:615777
6468	FBXW4	HP:0000670	Carious teeth	-	OMIM:131300
6468	FBXW4	HP:0011304	Broad thumb	2/7	OMIM:615777
6468	FBXW4	HP:0000668	Hypodontia	-	OMIM:615777
6468	FBXW4	HP:0000664	Synophrys	-	OMIM:615777
6468	FBXW4	HP:0004396	Poor appetite	-	OMIM:131300
6468	FBXW4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6468	FBXW4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6468	FBXW4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6468	FBXW4	HP:0003026	Short long bone	7/7	OMIM:615777
6468	FBXW4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6468	FBXW4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6468	FBXW4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6468	FBXW4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6468	FBXW4	HP:0000750	Delayed speech and language development	-	OMIM:615777
6468	FBXW4	HP:0011461	Fetal onset	7/7	OMIM:615777
6468	FBXW4	HP:0000774	Narrow chest	2/7	OMIM:615777
6468	FBXW4	HP:0000926	Platyspondyly	1/7	OMIM:615777
6468	FBXW4	HP:0003180	Flat acetabular roof	-	OMIM:615777
6468	FBXW4	HP:0004482	Relative macrocephaly	-	OMIM:615777
6468	FBXW4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6468	FBXW4	HP:0000823	Delayed puberty	-	OMIM:131300
6468	FBXW4	HP:0000894	Short clavicles	-	OMIM:615777
6468	FBXW4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6468	FBXW4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6468	FBXW4	HP:0000286	Epicanthus	1/7	OMIM:615777
6468	FBXW4	HP:0000280	Coarse facial features	2/7	OMIM:615777
6468	FBXW4	HP:0002827	Hip dislocation	3/7	OMIM:615777
6468	FBXW4	HP:0000252	Microcephaly	-	OMIM:615777
6468	FBXW4	HP:0002857	Genu valgum	-	OMIM:131300
6468	FBXW4	HP:0001533	Slender build	-	OMIM:131300
6468	FBXW4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6468	FBXW4	HP:0007807	Optic nerve compression	-	OMIM:131300
6468	FBXW4	HP:0012368	Flat face	7/7	OMIM:615777
6468	FBXW4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6468	FBXW4	HP:0000365	Hearing impairment	10/67	OMIM:131300
6468	FBXW4	HP:0000343	Long philtrum	1/7	OMIM:615777
6468	FBXW4	HP:0011001	Increased bone mineral density	-	OMIM:131300
6468	FBXW4	HP:0000311	Round face	2/7	OMIM:615777
6468	FBXW4	HP:0002970	Genu varum	-	OMIM:615777
6468	FBXW4	HP:0000303	Mandibular prognathia	-	OMIM:131300
6468	FBXW4	HP:0004058	Hand monodactyly	HP:0040282	ORPHA:2440
6468	FBXW4	HP:0004050	Absent hand	HP:0040283	ORPHA:2440
6468	FBXW4	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2440
6468	FBXW4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6468	FBXW4	HP:0000470	Short neck	1/7	OMIM:615777
6468	FBXW4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6468	FBXW4	HP:0001763	Pes planus	1/7	OMIM:615777
6468	FBXW4	HP:0001840	Metatarsus adductus	-	OMIM:615777
6468	FBXW4	HP:0000526	Aniridia	HP:0040283	ORPHA:2440
6468	FBXW4	HP:0000520	Proptosis	2/4	OMIM:131300
6468	FBXW4	HP:0000520	Proptosis	7/7	OMIM:615777
6468	FBXW4	HP:0001839	Split foot	HP:0040282	ORPHA:2440
6468	FBXW4	HP:0000592	Blue sclerae	2/7	OMIM:615777
6468	FBXW4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6468	FBXW4	HP:0012514	Lower limb pain	4/4	OMIM:131300
6469	SHH	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:93321
6469	SHH	HP:0001161	Hand polydactyly	HP:0040281	ORPHA:93405
6469	SHH	HP:0002465	Poor speech	HP:0040283	ORPHA:93926
6469	SHH	HP:0002465	Poor speech	HP:0040282	ORPHA:93924
6469	SHH	HP:0002465	Poor speech	HP:0040283	ORPHA:93925
6469	SHH	HP:0002465	Poor speech	HP:0040283	ORPHA:220386
6469	SHH	HP:0002474	Expressive language delay	HP:0040282	ORPHA:280195
6469	SHH	HP:0002451	Limb dystonia	HP:0040282	ORPHA:220386
6469	SHH	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93926
6469	SHH	HP:0002451	Limb dystonia	HP:0040283	ORPHA:93924
6469	SHH	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93925
6469	SHH	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:220386
6469	SHH	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93926
6469	SHH	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:93924
6469	SHH	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93925
6469	SHH	HP:0009932	Single naris	-	OMIM:142945
6469	SHH	HP:0009932	Single naris	HP:0040283	ORPHA:220386
6469	SHH	HP:0009932	Single naris	HP:0040283	ORPHA:93926
6469	SHH	HP:0009932	Single naris	HP:0040284	ORPHA:93924
6469	SHH	HP:0009932	Single naris	HP:0040283	ORPHA:93925
6469	SHH	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:93405
6469	SHH	HP:0009914	Cyclopia	-	OMIM:142945
6469	SHH	HP:0009914	Cyclopia	HP:0040283	ORPHA:280200
6469	SHH	HP:0009914	Cyclopia	HP:0040283	ORPHA:220386
6469	SHH	HP:0009914	Cyclopia	HP:0040283	ORPHA:93926
6469	SHH	HP:0009914	Cyclopia	HP:0040283	OMIM:147250
6469	SHH	HP:0009914	Cyclopia	HP:0040284	ORPHA:93924
6469	SHH	HP:0009914	Cyclopia	HP:0040283	ORPHA:93925
6469	SHH	HP:0002418	Abnormal midbrain morphology	HP:0040282	ORPHA:280195
6469	SHH	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6469	SHH	HP:0001293	Cranial nerve compression	-	OMIM:131300
6469	SHH	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:280195
6469	SHH	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280200
6469	SHH	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93926
6469	SHH	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93924
6469	SHH	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93925
6469	SHH	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220386
6469	SHH	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:280195
6469	SHH	HP:0001254	Lethargy	HP:0040282	ORPHA:93926
6469	SHH	HP:0001254	Lethargy	HP:0040283	ORPHA:93924
6469	SHH	HP:0001254	Lethargy	HP:0040282	ORPHA:93925
6469	SHH	HP:0001254	Lethargy	HP:0040282	ORPHA:220386
6469	SHH	HP:0001256	Intellectual disability, mild	3/14	OMIM:147250
6469	SHH	HP:0001250	Seizure	HP:0040282	ORPHA:220386
6469	SHH	HP:0001250	Seizure	HP:0040283	ORPHA:280200
6469	SHH	HP:0001250	Seizure	HP:0040282	ORPHA:93926
6469	SHH	HP:0001250	Seizure	HP:0040283	ORPHA:93924
6469	SHH	HP:0001250	Seizure	HP:0040282	ORPHA:93925
6469	SHH	HP:0001252	Hypotonia	2/7	OMIM:615777
6469	SHH	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280195
6469	SHH	HP:0001249	Intellectual disability	-	OMIM:142945
6469	SHH	HP:0001249	Intellectual disability	HP:0040282	ORPHA:220386
6469	SHH	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280200
6469	SHH	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93926
6469	SHH	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93924
6469	SHH	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93925
6469	SHH	HP:0001249	Intellectual disability	5/7	OMIM:615777
6469	SHH	HP:0001263	Global developmental delay	-	OMIM:142945
6469	SHH	HP:0001263	Global developmental delay	-	OMIM:615777
6469	SHH	HP:0001257	Spasticity	HP:0040282	ORPHA:93926
6469	SHH	HP:0001257	Spasticity	HP:0040283	ORPHA:93924
6469	SHH	HP:0001257	Spasticity	HP:0040282	ORPHA:93925
6469	SHH	HP:0001257	Spasticity	HP:0040282	ORPHA:220386
6469	SHH	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:280200
6469	SHH	HP:0007375	Abnormal septum pellucidum morphology	HP:0040283	ORPHA:280195
6469	SHH	HP:0007330	Frontoethmoidal encephalocele	HP:0040283	ORPHA:280195
6469	SHH	HP:0002540	Inability to walk	HP:0040282	ORPHA:93926
6469	SHH	HP:0002540	Inability to walk	HP:0040284	ORPHA:93924
6469	SHH	HP:0002540	Inability to walk	HP:0040282	ORPHA:93925
6469	SHH	HP:0002540	Inability to walk	HP:0040282	ORPHA:220386
6469	SHH	HP:0002515	Waddling gait	54/102	OMIM:131300
6469	SHH	HP:0003828	Variable expressivity	-	OMIM:611638
6469	SHH	HP:0003828	Variable expressivity	-	OMIM:147250
6469	SHH	HP:0003829	Typified by incomplete penetrance	-	OMIM:142945
6469	SHH	HP:0003829	Typified by incomplete penetrance	-	OMIM:611638
6469	SHH	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:280200
6469	SHH	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:93405
6469	SHH	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93926
6469	SHH	HP:0001371	Flexion contracture	HP:0040284	ORPHA:93924
6469	SHH	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93925
6469	SHH	HP:0001371	Flexion contracture	HP:0040283	ORPHA:220386
6469	SHH	HP:0001382	Joint hypermobility	-	OMIM:615777
6469	SHH	HP:0001355	Megalencephaly	HP:0040283	ORPHA:280195
6469	SHH	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6469	SHH	HP:0001360	Holoprosencephaly	HP:0040283	OMIM:611638
6469	SHH	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:280200
6469	SHH	HP:0001360	Holoprosencephaly	HP:0040282	OMIM:147250
6469	SHH	HP:0001360	Holoprosencephaly	-	OMIM:142945
6469	SHH	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6469	SHH	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93926
6469	SHH	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93924
6469	SHH	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93925
6469	SHH	HP:0001328	Specific learning disability	HP:0040282	ORPHA:280195
6469	SHH	HP:0001328	Specific learning disability	HP:0040282	ORPHA:220386
6469	SHH	HP:0001328	Specific learning disability	5/14	OMIM:147250
6469	SHH	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6469	SHH	HP:0001324	Muscle weakness	40/96	OMIM:131300
6469	SHH	HP:0001344	Absent speech	HP:0040282	ORPHA:93926
6469	SHH	HP:0001344	Absent speech	HP:0040284	ORPHA:93924
6469	SHH	HP:0001344	Absent speech	HP:0040282	ORPHA:93925
6469	SHH	HP:0001344	Absent speech	HP:0040282	ORPHA:220386
6469	SHH	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6469	SHH	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6469	SHH	HP:0000006	Autosomal dominant inheritance	-	OMIM:611638
6469	SHH	HP:0000006	Autosomal dominant inheritance	-	OMIM:147250
6469	SHH	HP:0000006	Autosomal dominant inheritance	-	OMIM:142945
6469	SHH	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6469	SHH	HP:0002650	Scoliosis	HP:0040283	ORPHA:93926
6469	SHH	HP:0002650	Scoliosis	HP:0040283	ORPHA:93924
6469	SHH	HP:0002650	Scoliosis	HP:0040283	ORPHA:93925
6469	SHH	HP:0002650	Scoliosis	HP:0040283	ORPHA:220386
6469	SHH	HP:0002650	Scoliosis	HP:0040283	ORPHA:280200
6469	SHH	HP:0002650	Scoliosis	12/14	OMIM:131300
6469	SHH	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6469	SHH	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6469	SHH	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6469	SHH	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6469	SHH	HP:0000193	Bifid uvula	-	OMIM:142945
6469	SHH	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93926
6469	SHH	HP:0000193	Bifid uvula	HP:0040283	ORPHA:93924
6469	SHH	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93925
6469	SHH	HP:0000193	Bifid uvula	HP:0040282	ORPHA:220386
6469	SHH	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:220386
6469	SHH	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93926
6469	SHH	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93924
6469	SHH	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93925
6469	SHH	HP:0000175	Cleft palate	HP:0040283	ORPHA:280200
6469	SHH	HP:0000175	Cleft palate	HP:0040282	ORPHA:93926
6469	SHH	HP:0000175	Cleft palate	HP:0040282	ORPHA:93924
6469	SHH	HP:0000175	Cleft palate	HP:0040282	ORPHA:93925
6469	SHH	HP:0000175	Cleft palate	2/7	OMIM:615777
6469	SHH	HP:0000175	Cleft palate	-	OMIM:142945
6469	SHH	HP:0000175	Cleft palate	HP:0040282	ORPHA:220386
6469	SHH	HP:0410030	Cleft lip	-	OMIM:142945
6469	SHH	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:280200
6469	SHH	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:220386
6469	SHH	HP:0006315	Solitary median maxillary central incisor	100%	OMIM:147250
6469	SHH	HP:0006315	Solitary median maxillary central incisor	-	OMIM:142945
6469	SHH	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93926
6469	SHH	HP:0006315	Solitary median maxillary central incisor	HP:0040284	ORPHA:93924
6469	SHH	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93925
6469	SHH	HP:0007633	Bilateral microphthalmos	-	OMIM:611638
6469	SHH	HP:0008947	Floppy infant	HP:0040282	ORPHA:93926
6469	SHH	HP:0008947	Floppy infant	HP:0040283	ORPHA:93924
6469	SHH	HP:0008947	Floppy infant	HP:0040282	ORPHA:93925
6469	SHH	HP:0008947	Floppy infant	HP:0040282	ORPHA:220386
6469	SHH	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93926
6469	SHH	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93924
6469	SHH	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93925
6469	SHH	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:220386
6469	SHH	HP:0002708	Prominent median palatal raphe	14/14	OMIM:147250
6469	SHH	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:280195
6469	SHH	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:220386
6469	SHH	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93926
6469	SHH	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93924
6469	SHH	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93925
6469	SHH	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:220386
6469	SHH	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93926
6469	SHH	HP:0002793	Abnormal pattern of respiration	HP:0040283	ORPHA:93924
6469	SHH	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93925
6469	SHH	HP:0000126	Hydronephrosis	-	OMIM:142945
6469	SHH	HP:0000104	Renal agenesis	HP:0040283	ORPHA:280200
6469	SHH	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93926
6469	SHH	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93924
6469	SHH	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93925
6469	SHH	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220386
6469	SHH	HP:0002019	Constipation	HP:0040282	ORPHA:93926
6469	SHH	HP:0002019	Constipation	HP:0040282	ORPHA:93924
6469	SHH	HP:0002019	Constipation	HP:0040282	ORPHA:93925
6469	SHH	HP:0002019	Constipation	HP:0040282	ORPHA:220386
6469	SHH	HP:0002033	Poor suck	HP:0040281	ORPHA:93926
6469	SHH	HP:0002033	Poor suck	HP:0040282	ORPHA:93924
6469	SHH	HP:0002033	Poor suck	HP:0040281	ORPHA:93925
6469	SHH	HP:0002033	Poor suck	HP:0040281	ORPHA:220386
6469	SHH	HP:0002000	Short columella	-	OMIM:142945
6469	SHH	HP:0002015	Dysphagia	HP:0040282	ORPHA:93926
6469	SHH	HP:0002015	Dysphagia	HP:0040283	ORPHA:93924
6469	SHH	HP:0002015	Dysphagia	HP:0040282	ORPHA:93925
6469	SHH	HP:0002015	Dysphagia	HP:0040283	ORPHA:280195
6469	SHH	HP:0002015	Dysphagia	HP:0040282	ORPHA:220386
6469	SHH	HP:0002013	Vomiting	HP:0040282	ORPHA:93926
6469	SHH	HP:0002013	Vomiting	HP:0040283	ORPHA:93924
6469	SHH	HP:0002013	Vomiting	HP:0040282	ORPHA:93925
6469	SHH	HP:0002013	Vomiting	HP:0040282	ORPHA:220386
6469	SHH	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:220386
6469	SHH	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93926
6469	SHH	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040283	ORPHA:93924
6469	SHH	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93925
6469	SHH	HP:0005968	Temperature instability	HP:0040282	ORPHA:220386
6469	SHH	HP:0005968	Temperature instability	HP:0040282	ORPHA:93926
6469	SHH	HP:0005968	Temperature instability	HP:0040283	ORPHA:93924
6469	SHH	HP:0005968	Temperature instability	HP:0040282	ORPHA:93925
6469	SHH	HP:0011800	Midface retrusion	-	OMIM:142945
6469	SHH	HP:0002099	Asthma	HP:0040283	ORPHA:280200
6469	SHH	HP:0003388	Easy fatigability	36/76	OMIM:131300
6469	SHH	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6469	SHH	HP:0009484	Deviation of the hand or of fingers of the hand	HP:0040281	ORPHA:93321
6469	SHH	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:220386
6469	SHH	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93926
6469	SHH	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93924
6469	SHH	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93925
6469	SHH	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280195
6469	SHH	HP:0002119	Ventriculomegaly	-	OMIM:142945
6469	SHH	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:280200
6469	SHH	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040282	ORPHA:988
6469	SHH	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:93405
6469	SHH	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:220386
6469	SHH	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93926
6469	SHH	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93924
6469	SHH	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93925
6469	SHH	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93926
6469	SHH	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:93924
6469	SHH	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93925
6469	SHH	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:220386
6469	SHH	HP:0100710	Impulsivity	HP:0040282	ORPHA:280195
6469	SHH	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:280200
6469	SHH	HP:0010708	1-5 finger cutaneous syndactyly	HP:0040281	ORPHA:93405
6469	SHH	HP:0100789	Torus palatinus	-	OMIM:147250
6469	SHH	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:220386
6469	SHH	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93926
6469	SHH	HP:0010654	Aplasia of the falx cerebri	HP:0040283	ORPHA:93924
6469	SHH	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93925
6469	SHH	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93926
6469	SHH	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93924
6469	SHH	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93925
6469	SHH	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:220386
6469	SHH	HP:0010644	Midnasal stenosis	HP:0040281	ORPHA:280200
6469	SHH	HP:0010644	Midnasal stenosis	9/14	OMIM:147250
6469	SHH	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93926
6469	SHH	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93924
6469	SHH	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93925
6469	SHH	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:220386
6469	SHH	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:220386
6469	SHH	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93926
6469	SHH	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93924
6469	SHH	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93925
6469	SHH	HP:0003510	Severe short stature	7/7	OMIM:615777
6469	SHH	HP:0025011	Pyriform aperture stenosis	-	OMIM:147250
6469	SHH	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:220386
6469	SHH	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93926
6469	SHH	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:93924
6469	SHH	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93925
6469	SHH	HP:0001028	Hemangioma	HP:0040283	ORPHA:280200
6469	SHH	HP:0002315	Headache	-	OMIM:131300
6469	SHH	HP:0004976	Knee dislocation	6/7	OMIM:615777
6469	SHH	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:280200
6469	SHH	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:280200
6469	SHH	HP:0009803	Short phalanx of finger	-	OMIM:615777
6469	SHH	HP:0009763	Limb pain	63/92	OMIM:131300
6469	SHH	HP:0003621	Juvenile onset	-	OMIM:131300
6469	SHH	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6469	SHH	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:220386
6469	SHH	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93926
6469	SHH	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93924
6469	SHH	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93925
6469	SHH	HP:0004243	Abnormal scaphoid morphology	HP:0040281	ORPHA:93321
6469	SHH	HP:0004252	Abnormal trapezium morphology	HP:0040281	ORPHA:93321
6469	SHH	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6469	SHH	HP:6001056	Out-toeing	-	OMIM:131300
6469	SHH	HP:0000651	Diplopia	-	OMIM:131300
6469	SHH	HP:0000612	Iris coloboma	HP:0040283	ORPHA:280200
6469	SHH	HP:0000612	Iris coloboma	HP:0040281	OMIM:611638
6469	SHH	HP:0001956	Truncal obesity	2/7	OMIM:615777
6469	SHH	HP:0000601	Hypotelorism	HP:0040282	ORPHA:280200
6469	SHH	HP:0000601	Hypotelorism	-	OMIM:142945
6469	SHH	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93926
6469	SHH	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93924
6469	SHH	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93925
6469	SHH	HP:0000601	Hypotelorism	HP:0040281	ORPHA:220386
6469	SHH	HP:0000601	Hypotelorism	8/14	OMIM:147250
6469	SHH	HP:0001903	Anemia	HP:0040283	OMIM:131300
6469	SHH	HP:0010049	Short metacarpal	-	OMIM:615777
6469	SHH	HP:0010035	Aplasia of the 1st metacarpal	HP:0040281	ORPHA:93321
6469	SHH	HP:0000678	Dental crowding	-	OMIM:615777
6469	SHH	HP:0012650	Perisylvian polymicrogyria	HP:0040283	ORPHA:280195
6469	SHH	HP:0000670	Carious teeth	-	OMIM:131300
6469	SHH	HP:0011304	Broad thumb	2/7	OMIM:615777
6469	SHH	HP:0000668	Hypodontia	-	OMIM:615777
6469	SHH	HP:0000664	Synophrys	-	OMIM:615777
6469	SHH	HP:0004322	Short stature	HP:0040281	ORPHA:220386
6469	SHH	HP:0004322	Short stature	HP:0040282	ORPHA:280200
6469	SHH	HP:0004322	Short stature	7/14	OMIM:147250
6469	SHH	HP:0004322	Short stature	HP:0040281	ORPHA:93926
6469	SHH	HP:0004322	Short stature	HP:0040282	ORPHA:93924
6469	SHH	HP:0004322	Short stature	HP:0040281	ORPHA:93925
6469	SHH	HP:0004322	Short stature	HP:0040281	ORPHA:988
6469	SHH	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:220386
6469	SHH	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93926
6469	SHH	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93924
6469	SHH	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93925
6469	SHH	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:280200
6469	SHH	HP:0004396	Poor appetite	-	OMIM:131300
6469	SHH	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6469	SHH	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6469	SHH	HP:0031913	Rhombencephalosynapsis	HP:0040283	ORPHA:280195
6469	SHH	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6469	SHH	HP:0003026	Short long bone	7/7	OMIM:615777
6469	SHH	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6469	SHH	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:280195
6469	SHH	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6469	SHH	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6469	SHH	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6469	SHH	HP:0000737	Irritability	HP:0040282	ORPHA:93926
6469	SHH	HP:0000737	Irritability	HP:0040282	ORPHA:93924
6469	SHH	HP:0000737	Irritability	HP:0040282	ORPHA:93925
6469	SHH	HP:0000737	Irritability	HP:0040282	ORPHA:220386
6469	SHH	HP:0000739	Anxiety	HP:0040282	ORPHA:93926
6469	SHH	HP:0000739	Anxiety	HP:0040282	ORPHA:93924
6469	SHH	HP:0000739	Anxiety	HP:0040282	ORPHA:93925
6469	SHH	HP:0000739	Anxiety	HP:0040282	ORPHA:220386
6469	SHH	HP:0000736	Short attention span	HP:0040282	ORPHA:280195
6469	SHH	HP:0000750	Delayed speech and language development	-	OMIM:615777
6469	SHH	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:220386
6469	SHH	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93926
6469	SHH	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93924
6469	SHH	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93925
6469	SHH	HP:0000741	Apathy	HP:0040282	ORPHA:220386
6469	SHH	HP:0000741	Apathy	HP:0040282	ORPHA:93926
6469	SHH	HP:0000741	Apathy	HP:0040283	ORPHA:93924
6469	SHH	HP:0000741	Apathy	HP:0040282	ORPHA:93925
6469	SHH	HP:0000716	Depression	HP:0040282	ORPHA:93926
6469	SHH	HP:0000716	Depression	HP:0040282	ORPHA:93924
6469	SHH	HP:0000716	Depression	HP:0040282	ORPHA:93925
6469	SHH	HP:0000716	Depression	HP:0040282	ORPHA:220386
6469	SHH	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93926
6469	SHH	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93924
6469	SHH	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93925
6469	SHH	HP:0000708	Atypical behavior	HP:0040282	ORPHA:220386
6469	SHH	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:280195
6469	SHH	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:220386
6469	SHH	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93926
6469	SHH	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93924
6469	SHH	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93925
6469	SHH	HP:0011461	Fetal onset	7/7	OMIM:615777
6469	SHH	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:220386
6469	SHH	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93926
6469	SHH	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93924
6469	SHH	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93925
6469	SHH	HP:0000774	Narrow chest	2/7	OMIM:615777
6469	SHH	HP:0005772	Aplasia/Hypoplasia of the tibia	HP:0040281	ORPHA:988
6469	SHH	HP:0005736	Short tibia	HP:0040282	ORPHA:93405
6469	SHH	HP:0003196	Short nose	HP:0040283	ORPHA:280200
6469	SHH	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93926
6469	SHH	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93924
6469	SHH	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93925
6469	SHH	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:220386
6469	SHH	HP:0000926	Platyspondyly	1/7	OMIM:615777
6469	SHH	HP:0003180	Flat acetabular roof	-	OMIM:615777
6469	SHH	HP:0004482	Relative macrocephaly	-	OMIM:615777
6469	SHH	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6469	SHH	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:220386
6469	SHH	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93926
6469	SHH	HP:0000873	Diabetes insipidus	HP:0040282	ORPHA:93924
6469	SHH	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93925
6469	SHH	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:280200
6469	SHH	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:220386
6469	SHH	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93926
6469	SHH	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93924
6469	SHH	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93925
6469	SHH	HP:0000863	Central diabetes insipidus	-	OMIM:142945
6469	SHH	HP:0000863	Central diabetes insipidus	HP:0040282	ORPHA:280195
6469	SHH	HP:0000830	Anterior hypopituitarism	HP:0040283	OMIM:147250
6469	SHH	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:280195
6469	SHH	HP:0012806	Proboscis	-	OMIM:142945
6469	SHH	HP:0012806	Proboscis	HP:0040283	ORPHA:220386
6469	SHH	HP:0012806	Proboscis	HP:0040283	ORPHA:93926
6469	SHH	HP:0012806	Proboscis	HP:0040284	ORPHA:93924
6469	SHH	HP:0012806	Proboscis	HP:0040283	ORPHA:93925
6469	SHH	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:220386
6469	SHH	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93926
6469	SHH	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:93924
6469	SHH	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93925
6469	SHH	HP:0000826	Precocious puberty	HP:0040282	ORPHA:280195
6469	SHH	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:280200
6469	SHH	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93926
6469	SHH	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93924
6469	SHH	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93925
6469	SHH	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:220386
6469	SHH	HP:0000824	Decreased response to growth hormone stimulation test	5/7	OMIM:147250
6469	SHH	HP:0000823	Delayed puberty	-	OMIM:131300
6469	SHH	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:220386
6469	SHH	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93926
6469	SHH	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93924
6469	SHH	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93925
6469	SHH	HP:0000894	Short clavicles	-	OMIM:615777
6469	SHH	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6469	SHH	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6469	SHH	HP:0045005	Neural tube defect	HP:0040282	ORPHA:220386
6469	SHH	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93926
6469	SHH	HP:0045005	Neural tube defect	HP:0040284	ORPHA:93924
6469	SHH	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93925
6469	SHH	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:220386
6469	SHH	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93926
6469	SHH	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93924
6469	SHH	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93925
6469	SHH	HP:0000286	Epicanthus	1/7	OMIM:615777
6469	SHH	HP:0000280	Coarse facial features	2/7	OMIM:615777
6469	SHH	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93926
6469	SHH	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93924
6469	SHH	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93925
6469	SHH	HP:0000256	Macrocephaly	HP:0040283	ORPHA:220386
6469	SHH	HP:0000272	Malar flattening	-	OMIM:142945
6469	SHH	HP:0006443	Patellar aplasia	HP:0040281	ORPHA:988
6469	SHH	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93926
6469	SHH	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93924
6469	SHH	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93925
6469	SHH	HP:0002827	Hip dislocation	3/7	OMIM:615777
6469	SHH	HP:0002827	Hip dislocation	HP:0040283	ORPHA:220386
6469	SHH	HP:0005048	Synostosis of carpal bones	HP:0040282	ORPHA:988
6469	SHH	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93926
6469	SHH	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93924
6469	SHH	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93925
6469	SHH	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220386
6469	SHH	HP:0000252	Microcephaly	HP:0040283	ORPHA:280195
6469	SHH	HP:0000252	Microcephaly	-	OMIM:142945
6469	SHH	HP:0000252	Microcephaly	HP:0040282	ORPHA:220386
6469	SHH	HP:0000252	Microcephaly	HP:0040282	ORPHA:280200
6469	SHH	HP:0000252	Microcephaly	8/24	OMIM:147250
6469	SHH	HP:0000252	Microcephaly	HP:0040282	ORPHA:93926
6469	SHH	HP:0000252	Microcephaly	HP:0040283	ORPHA:93924
6469	SHH	HP:0000252	Microcephaly	HP:0040282	ORPHA:93925
6469	SHH	HP:0000252	Microcephaly	-	OMIM:615777
6469	SHH	HP:0000218	High palate	HP:0040282	ORPHA:93926
6469	SHH	HP:0000218	High palate	HP:0040282	ORPHA:93924
6469	SHH	HP:0000218	High palate	HP:0040282	ORPHA:93925
6469	SHH	HP:0000218	High palate	HP:0040282	ORPHA:220386
6469	SHH	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:280195
6469	SHH	HP:0002857	Genu valgum	-	OMIM:131300
6469	SHH	HP:0002871	Central apnea	HP:0040282	ORPHA:220386
6469	SHH	HP:0002871	Central apnea	HP:0040282	ORPHA:93926
6469	SHH	HP:0002871	Central apnea	HP:0040283	ORPHA:93924
6469	SHH	HP:0002871	Central apnea	HP:0040282	ORPHA:93925
6469	SHH	HP:0000202	Orofacial cleft	HP:0040283	OMIM:611638
6469	SHH	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:280200
6469	SHH	HP:0001533	Slender build	-	OMIM:131300
6469	SHH	HP:0000204	Cleft upper lip	1/14	OMIM:147250
6469	SHH	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93926
6469	SHH	HP:0001508	Failure to thrive	HP:0040282	ORPHA:93924
6469	SHH	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93925
6469	SHH	HP:0001508	Failure to thrive	HP:0040281	ORPHA:220386
6469	SHH	HP:0001501	6 metacarpals	HP:0040282	ORPHA:93405
6469	SHH	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:280200
6469	SHH	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6469	SHH	HP:0001510	Growth delay	HP:0040281	ORPHA:93926
6469	SHH	HP:0001510	Growth delay	HP:0040282	ORPHA:93924
6469	SHH	HP:0001510	Growth delay	HP:0040281	ORPHA:93925
6469	SHH	HP:0001510	Growth delay	HP:0040281	ORPHA:220386
6469	SHH	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040280	ORPHA:93321
6469	SHH	HP:0007807	Optic nerve compression	-	OMIM:131300
6469	SHH	HP:0012368	Flat face	7/7	OMIM:615777
6469	SHH	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:220386
6469	SHH	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93926
6469	SHH	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93924
6469	SHH	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93925
6469	SHH	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6469	SHH	HP:0002916	Abnormality of chromosome segregation	2/14	OMIM:147250
6469	SHH	HP:0000365	Hearing impairment	10/67	OMIM:131300
6469	SHH	HP:0000366	Abnormality of the nose	-	OMIM:142945
6469	SHH	HP:0000343	Long philtrum	1/7	OMIM:615777
6469	SHH	HP:0011001	Increased bone mineral density	-	OMIM:131300
6469	SHH	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:280195
6469	SHH	HP:0000311	Round face	2/7	OMIM:615777
6469	SHH	HP:0002991	Abnormal fibula morphology	HP:0040281	ORPHA:988
6469	SHH	HP:0000322	Short philtrum	HP:0040282	ORPHA:280200
6469	SHH	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93926
6469	SHH	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93924
6469	SHH	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93925
6469	SHH	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:220386
6469	SHH	HP:0001622	Premature birth	HP:0040282	ORPHA:280200
6469	SHH	HP:0002970	Genu varum	-	OMIM:615777
6469	SHH	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:280200
6469	SHH	HP:0000303	Mandibular prognathia	-	OMIM:131300
6469	SHH	HP:0001739	Abnormal nasopharynx morphology	1/14	OMIM:147250
6469	SHH	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93926
6469	SHH	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93924
6469	SHH	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93925
6469	SHH	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:220386
6469	SHH	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6469	SHH	HP:0005280	Depressed nasal bridge	-	OMIM:142945
6469	SHH	HP:0000486	Strabismus	HP:0040283	ORPHA:280200
6469	SHH	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93926
6469	SHH	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:93924
6469	SHH	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93925
6469	SHH	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:220386
6469	SHH	HP:0000463	Anteverted nares	HP:0040283	ORPHA:280200
6469	SHH	HP:0000458	Anosmia	HP:0040283	OMIM:147250
6469	SHH	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93926
6469	SHH	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93924
6469	SHH	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93925
6469	SHH	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:220386
6469	SHH	HP:0000470	Short neck	1/7	OMIM:615777
6469	SHH	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:93405
6469	SHH	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6469	SHH	HP:0001763	Pes planus	1/7	OMIM:615777
6469	SHH	HP:0000453	Choanal atresia	HP:0040281	ORPHA:280200
6469	SHH	HP:0000453	Choanal atresia	8/14	OMIM:147250
6469	SHH	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:280200
6469	SHH	HP:0001840	Metatarsus adductus	-	OMIM:615777
6469	SHH	HP:0000528	Anophthalmia	HP:0040283	OMIM:611638
6469	SHH	HP:0000528	Anophthalmia	HP:0040283	OMIM:147250
6469	SHH	HP:0000520	Proptosis	2/4	OMIM:131300
6469	SHH	HP:0000520	Proptosis	7/7	OMIM:615777
6469	SHH	HP:0000520	Proptosis	-	OMIM:142945
6469	SHH	HP:0001829	Foot polydactyly	HP:0040282	ORPHA:93405
6469	SHH	HP:0000504	Abnormality of vision	HP:0040282	OMIM:611638
6469	SHH	HP:0000592	Blue sclerae	2/7	OMIM:615777
6469	SHH	HP:0000589	Coloboma	HP:0040283	OMIM:147250
6469	SHH	HP:0000568	Microphthalmia	HP:0040281	OMIM:611638
6469	SHH	HP:0000568	Microphthalmia	HP:0040283	OMIM:147250
6469	SHH	HP:0000567	Chorioretinal coloboma	-	OMIM:611638
6469	SHH	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6469	SHH	HP:0012514	Lower limb pain	4/4	OMIM:131300
6472	SHMT2	HP:0001181	Adducted thumb	1/5	OMIM:619121
6472	SHMT2	HP:0002474	Expressive language delay	1/5	OMIM:619121
6472	SHMT2	HP:0009943	Complete duplication of thumb phalanx	1/5	OMIM:619121
6472	SHMT2	HP:0010864	Intellectual disability, severe	2/3	OMIM:619121
6472	SHMT2	HP:0002553	Highly arched eyebrow	3/5	OMIM:619121
6472	SHMT2	HP:0002510	Spastic tetraplegia	1/5	OMIM:619121
6472	SHMT2	HP:0001349	Facial diplegia	1/5	OMIM:619121
6472	SHMT2	HP:0001347	Hyperreflexia	-	OMIM:619121
6472	SHMT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619121
6472	SHMT2	HP:0001310	Dysmetria	3/4	OMIM:619121
6472	SHMT2	HP:0002650	Scoliosis	2/5	OMIM:619121
6472	SHMT2	HP:0000193	Bifid uvula	1/5	OMIM:619121
6472	SHMT2	HP:0002714	Downturned corners of mouth	1/5	OMIM:619121
6472	SHMT2	HP:0004691	2-3 toe syndactyly	3/5	OMIM:619121
6472	SHMT2	HP:0002064	Spastic gait	2/4	OMIM:619121
6472	SHMT2	HP:0003390	Sensory axonal neuropathy	1/3	OMIM:619121
6472	SHMT2	HP:0002078	Truncal ataxia	1/4	OMIM:619121
6472	SHMT2	HP:0002079	Hypoplasia of the corpus callosum	5/5	OMIM:619121
6472	SHMT2	HP:0030953	Conjunctival hyperemia	2/5	OMIM:619121
6472	SHMT2	HP:0003487	Babinski sign	2/5	OMIM:619121
6472	SHMT2	HP:0002119	Ventriculomegaly	1/5	OMIM:619121
6472	SHMT2	HP:0009623	Proximal placement of thumb	3/5	OMIM:619121
6472	SHMT2	HP:0003577	Congenital onset	4/5	OMIM:619121
6472	SHMT2	HP:0007018	Attention deficit hyperactivity disorder	3/4	OMIM:619121
6472	SHMT2	HP:0002342	Intellectual disability, moderate	1/3	OMIM:619121
6472	SHMT2	HP:0003623	Neonatal onset	1/5	OMIM:619121
6472	SHMT2	HP:0002307	Drooling	2/5	OMIM:619121
6472	SHMT2	HP:0012650	Perisylvian polymicrogyria	4/5	OMIM:619121
6472	SHMT2	HP:0031936	Delayed ability to walk	5/5	OMIM:619121
6472	SHMT2	HP:0000733	Motor stereotypy	1/4	OMIM:619121
6472	SHMT2	HP:0000718	Aggressive behavior	1/5	OMIM:619121
6472	SHMT2	HP:0000252	Microcephaly	5/5	OMIM:619121
6472	SHMT2	HP:0000219	Thin upper lip vermilion	1/5	OMIM:619121
6472	SHMT2	HP:0001510	Growth delay	5/5	OMIM:619121
6472	SHMT2	HP:0000343	Long philtrum	1/5	OMIM:619121
6472	SHMT2	HP:0001684	Secundum atrial septal defect	1/5	OMIM:619121
6472	SHMT2	HP:0000322	Short philtrum	1/5	OMIM:619121
6472	SHMT2	HP:0001639	Hypertrophic cardiomyopathy	4/5	OMIM:619121
6472	SHMT2	HP:0000486	Strabismus	2/5	OMIM:619121
6472	SHMT2	HP:0012407	Scissor gait	1/5	OMIM:619121
6472	SHMT2	HP:0000514	Slow saccadic eye movements	2/5	OMIM:619121
6473	SHOX	HP:0001156	Brachydactyly	HP:0040281	ORPHA:240
6473	SHOX	HP:0001191	Abnormal carpal morphology	HP:0040281	ORPHA:240
6473	SHOX	HP:0001191	Abnormal carpal morphology	-	OMIM:127300
6473	SHOX	HP:0001191	Abnormal carpal morphology	HP:0040281	ORPHA:2632
6473	SHOX	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6473	SHOX	HP:0003712	Skeletal muscle hypertrophy	-	OMIM:127300
6473	SHOX	HP:0003712	Skeletal muscle hypertrophy	HP:0040281	ORPHA:314795
6473	SHOX	HP:0001293	Cranial nerve compression	-	OMIM:131300
6473	SHOX	HP:0001252	Hypotonia	2/7	OMIM:615777
6473	SHOX	HP:0001249	Intellectual disability	0/1	OMIM:249700
6473	SHOX	HP:0001249	Intellectual disability	5/7	OMIM:615777
6473	SHOX	HP:0001263	Global developmental delay	-	OMIM:615777
6473	SHOX	HP:0100864	Short femoral neck	-	OMIM:249700
6473	SHOX	HP:0100864	Short femoral neck	HP:0040281	ORPHA:2632
6473	SHOX	HP:0031095	Abnormal humerus morphology	HP:0040281	ORPHA:240
6473	SHOX	HP:0031095	Abnormal humerus morphology	-	OMIM:127300
6473	SHOX	HP:0002515	Waddling gait	54/102	OMIM:131300
6473	SHOX	HP:0001387	Joint stiffness	HP:0040281	ORPHA:240
6473	SHOX	HP:0001382	Joint hypermobility	-	OMIM:615777
6473	SHOX	HP:0002683	Abnormal calvaria morphology	HP:0040282	ORPHA:240
6473	SHOX	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6473	SHOX	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6473	SHOX	HP:0008873	Disproportionate short-limb short stature	-	OMIM:127300
6473	SHOX	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:2632
6473	SHOX	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:240
6473	SHOX	HP:0008845	Mesomelic short stature	1/1	OMIM:249700
6473	SHOX	HP:0003993	Broad ulna	-	OMIM:249700
6473	SHOX	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6473	SHOX	HP:0001324	Muscle weakness	40/96	OMIM:131300
6473	SHOX	HP:0002673	Coxa valga	-	OMIM:127300
6473	SHOX	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6473	SHOX	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6473	SHOX	HP:0000007	Autosomal recessive inheritance	-	OMIM:249700
6473	SHOX	HP:0000006	Autosomal dominant inheritance	-	OMIM:127300
6473	SHOX	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6473	SHOX	HP:0002650	Scoliosis	-	OMIM:127300
6473	SHOX	HP:0002650	Scoliosis	HP:0040281	ORPHA:314795
6473	SHOX	HP:0002650	Scoliosis	12/14	OMIM:131300
6473	SHOX	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6473	SHOX	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:240
6473	SHOX	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6473	SHOX	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6473	SHOX	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6473	SHOX	HP:0000175	Cleft palate	2/7	OMIM:615777
6473	SHOX	HP:0005011	Mesomelic arm shortening	1/1	OMIM:249700
6473	SHOX	HP:0005026	Mesomelic/rhizomelic limb shortening	HP:0040281	ORPHA:2632
6473	SHOX	HP:0005019	Diaphyseal undertubulation	HP:0040281	ORPHA:240
6473	SHOX	HP:0006248	Limited wrist movement	HP:0040281	ORPHA:240
6473	SHOX	HP:0006248	Limited wrist movement	-	OMIM:127300
6473	SHOX	HP:0002762	Multiple exostoses	-	OMIM:127300
6473	SHOX	HP:0001417	X-linked inheritance	-	OMIM:300582
6473	SHOX	HP:0003367	Abnormal femoral neck morphology	-	OMIM:127300
6473	SHOX	HP:0005974	Episodic ketoacidosis	HP:0040281	ORPHA:314795
6473	SHOX	HP:0003388	Easy fatigability	36/76	OMIM:131300
6473	SHOX	HP:0009465	Ulnar deviation of finger	HP:0040281	ORPHA:2632
6473	SHOX	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6473	SHOX	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2632
6473	SHOX	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:240
6473	SHOX	HP:0005916	Abnormal metacarpal morphology	-	OMIM:127300
6473	SHOX	HP:0010579	Cone-shaped epiphysis	HP:0040281	ORPHA:240
6473	SHOX	HP:0100777	Exostoses	HP:0040281	ORPHA:240
6473	SHOX	HP:0010624	Aplastic/hypoplastic toenail	HP:0040281	ORPHA:240
6473	SHOX	HP:0003510	Severe short stature	7/7	OMIM:615777
6473	SHOX	HP:0003510	Severe short stature	HP:0040281	ORPHA:2632
6473	SHOX	HP:0002315	Headache	-	OMIM:131300
6473	SHOX	HP:0004976	Knee dislocation	6/7	OMIM:615777
6473	SHOX	HP:0004991	Rhizomelic arm shortening	1/1	OMIM:249700
6473	SHOX	HP:0009816	Lower limb undergrowth	HP:0040281	ORPHA:314795
6473	SHOX	HP:0009821	Forearm undergrowth	HP:0040281	ORPHA:314795
6473	SHOX	HP:0009803	Short phalanx of finger	-	OMIM:615777
6473	SHOX	HP:0009763	Limb pain	63/92	OMIM:131300
6473	SHOX	HP:0003621	Juvenile onset	-	OMIM:131300
6473	SHOX	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6473	SHOX	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:240
6473	SHOX	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6473	SHOX	HP:6001056	Out-toeing	-	OMIM:131300
6473	SHOX	HP:0000651	Diplopia	-	OMIM:131300
6473	SHOX	HP:0001956	Truncal obesity	2/7	OMIM:615777
6473	SHOX	HP:0001903	Anemia	HP:0040283	OMIM:131300
6473	SHOX	HP:0010049	Short metacarpal	-	OMIM:615777
6473	SHOX	HP:0010044	Short 4th metacarpal	-	OMIM:127300
6473	SHOX	HP:0000678	Dental crowding	-	OMIM:615777
6473	SHOX	HP:0000670	Carious teeth	-	OMIM:131300
6473	SHOX	HP:0011304	Broad thumb	2/7	OMIM:615777
6473	SHOX	HP:0000668	Hypodontia	-	OMIM:615777
6473	SHOX	HP:0000664	Synophrys	-	OMIM:615777
6473	SHOX	HP:0004322	Short stature	-	OMIM:300582
6473	SHOX	HP:0004322	Short stature	HP:0040281	ORPHA:314795
6473	SHOX	HP:0003067	Madelung deformity	HP:0040281	ORPHA:240
6473	SHOX	HP:0003067	Madelung deformity	1/1	OMIM:249700
6473	SHOX	HP:0003067	Madelung deformity	HP:0040281	ORPHA:314795
6473	SHOX	HP:0003067	Madelung deformity	-	OMIM:127300
6473	SHOX	HP:0003067	Madelung deformity	HP:0040281	ORPHA:2632
6473	SHOX	HP:0004396	Poor appetite	-	OMIM:131300
6473	SHOX	HP:0003038	Fibular hypoplasia	-	OMIM:127300
6473	SHOX	HP:0003038	Fibular hypoplasia	0/1	OMIM:249700
6473	SHOX	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6473	SHOX	HP:0003031	Ulnar bowing	HP:0040281	ORPHA:240
6473	SHOX	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6473	SHOX	HP:0003042	Elbow dislocation	HP:0040282	ORPHA:240
6473	SHOX	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6473	SHOX	HP:0003026	Short long bone	7/7	OMIM:615777
6473	SHOX	HP:0003027	Mesomelia	-	OMIM:127300
6473	SHOX	HP:0003027	Mesomelia	-	OMIM:249700
6473	SHOX	HP:0003027	Mesomelia	HP:0040281	ORPHA:240
6473	SHOX	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6473	SHOX	HP:0003022	Hypoplasia of the ulna	-	OMIM:127300
6473	SHOX	HP:0003022	Hypoplasia of the ulna	-	OMIM:249700
6473	SHOX	HP:0003022	Hypoplasia of the ulna	HP:0040281	ORPHA:240
6473	SHOX	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6473	SHOX	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6473	SHOX	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6473	SHOX	HP:0000750	Delayed speech and language development	-	OMIM:615777
6473	SHOX	HP:0011461	Fetal onset	7/7	OMIM:615777
6473	SHOX	HP:0000774	Narrow chest	2/7	OMIM:615777
6473	SHOX	HP:0003102	Increased carrying angle	1/1	OMIM:249700
6473	SHOX	HP:0003102	Increased carrying angle	-	OMIM:127300
6473	SHOX	HP:0005736	Short tibia	-	OMIM:127300
6473	SHOX	HP:0005736	Short tibia	HP:0040281	ORPHA:240
6473	SHOX	HP:0005736	Short tibia	-	OMIM:249700
6473	SHOX	HP:0000926	Platyspondyly	1/7	OMIM:615777
6473	SHOX	HP:0003180	Flat acetabular roof	-	OMIM:615777
6473	SHOX	HP:0004482	Relative macrocephaly	-	OMIM:615777
6473	SHOX	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6473	SHOX	HP:0000823	Delayed puberty	-	OMIM:131300
6473	SHOX	HP:0040071	Abnormal morphology of ulna	HP:0040281	ORPHA:2632
6473	SHOX	HP:0040071	Abnormal morphology of ulna	HP:0040281	ORPHA:240
6473	SHOX	HP:0000894	Short clavicles	-	OMIM:615777
6473	SHOX	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6473	SHOX	HP:0005856	Ulnar radial head dislocation	HP:0040281	ORPHA:314795
6473	SHOX	HP:0003272	Abnormal hip bone morphology	HP:0040281	ORPHA:240
6473	SHOX	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6473	SHOX	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:240
6473	SHOX	HP:0000286	Epicanthus	1/7	OMIM:615777
6473	SHOX	HP:0000280	Coarse facial features	2/7	OMIM:615777
6473	SHOX	HP:0006459	Dorsal subluxation of ulna	HP:0040281	ORPHA:240
6473	SHOX	HP:0006459	Dorsal subluxation of ulna	-	OMIM:127300
6473	SHOX	HP:0006443	Patellar aplasia	HP:0040281	ORPHA:240
6473	SHOX	HP:0002818	Abnormal morphology of the radius	HP:0040281	ORPHA:240
6473	SHOX	HP:0002827	Hip dislocation	3/7	OMIM:615777
6473	SHOX	HP:0002823	Abnormal femur morphology	HP:0040281	ORPHA:240
6473	SHOX	HP:0006381	Rudimentary fibula	-	OMIM:249700
6473	SHOX	HP:0000252	Microcephaly	-	OMIM:615777
6473	SHOX	HP:0000218	High palate	1/1	OMIM:249700
6473	SHOX	HP:0000218	High palate	-	OMIM:127300
6473	SHOX	HP:0000218	High palate	HP:0040281	ORPHA:314795
6473	SHOX	HP:0000218	High palate	HP:0040281	ORPHA:2632
6473	SHOX	HP:0002857	Genu valgum	-	OMIM:131300
6473	SHOX	HP:0002857	Genu valgum	HP:0040281	ORPHA:314795
6473	SHOX	HP:0002857	Genu valgum	HP:0040282	ORPHA:240
6473	SHOX	HP:0001533	Slender build	-	OMIM:131300
6473	SHOX	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6473	SHOX	HP:0001513	Obesity	HP:0040282	ORPHA:314795
6473	SHOX	HP:0007807	Optic nerve compression	-	OMIM:131300
6473	SHOX	HP:0012368	Flat face	7/7	OMIM:615777
6473	SHOX	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6473	SHOX	HP:0002938	Lumbar hyperlordosis	-	OMIM:249700
6473	SHOX	HP:0006492	Aplasia/Hypoplasia of the fibula	HP:0040281	ORPHA:2632
6473	SHOX	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:2632
6473	SHOX	HP:0000365	Hearing impairment	10/67	OMIM:131300
6473	SHOX	HP:0000343	Long philtrum	1/7	OMIM:615777
6473	SHOX	HP:0011001	Increased bone mineral density	-	OMIM:131300
6473	SHOX	HP:0002996	Limited elbow movement	-	OMIM:127300
6473	SHOX	HP:0000347	Micrognathia	-	OMIM:249700
6473	SHOX	HP:0000347	Micrognathia	HP:0040281	ORPHA:314795
6473	SHOX	HP:0002982	Tibial bowing	-	OMIM:127300
6473	SHOX	HP:0002982	Tibial bowing	HP:0040281	ORPHA:314795
6473	SHOX	HP:0002982	Tibial bowing	HP:0040281	ORPHA:240
6473	SHOX	HP:0002983	Micromelia	HP:0040281	ORPHA:2632
6473	SHOX	HP:0002983	Micromelia	HP:0040281	ORPHA:240
6473	SHOX	HP:0000311	Round face	2/7	OMIM:615777
6473	SHOX	HP:0002992	Abnormal tibia morphology	HP:0040281	ORPHA:240
6473	SHOX	HP:0002986	Radial bowing	-	OMIM:127300
6473	SHOX	HP:0002986	Radial bowing	HP:0040281	ORPHA:240
6473	SHOX	HP:0002986	Radial bowing	-	OMIM:249700
6473	SHOX	HP:0002984	Hypoplasia of the radius	-	OMIM:127300
6473	SHOX	HP:0002984	Hypoplasia of the radius	-	OMIM:249700
6473	SHOX	HP:0002984	Hypoplasia of the radius	HP:0040281	ORPHA:240
6473	SHOX	HP:0002970	Genu varum	-	OMIM:615777
6473	SHOX	HP:0002970	Genu varum	HP:0040281	ORPHA:240
6473	SHOX	HP:0002967	Cubitus valgus	HP:0040281	ORPHA:314795
6473	SHOX	HP:0000303	Mandibular prognathia	-	OMIM:131300
6473	SHOX	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:240
6473	SHOX	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6473	SHOX	HP:0000470	Short neck	HP:0040281	ORPHA:314795
6473	SHOX	HP:0000470	Short neck	1/7	OMIM:615777
6473	SHOX	HP:0001773	Short foot	HP:0040281	ORPHA:314795
6473	SHOX	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6473	SHOX	HP:0001763	Pes planus	1/7	OMIM:615777
6473	SHOX	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:240
6473	SHOX	HP:0001840	Metatarsus adductus	-	OMIM:615777
6473	SHOX	HP:0000520	Proptosis	2/4	OMIM:131300
6473	SHOX	HP:0000520	Proptosis	7/7	OMIM:615777
6473	SHOX	HP:0001832	Abnormal metatarsal morphology	-	OMIM:127300
6473	SHOX	HP:0001831	Short toe	-	OMIM:127300
6473	SHOX	HP:0001804	Hypoplastic fingernail	HP:0040281	ORPHA:240
6473	SHOX	HP:0000592	Blue sclerae	2/7	OMIM:615777
6473	SHOX	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6473	SHOX	HP:0012514	Lower limb pain	4/4	OMIM:131300
6476	SI	HP:0033589	Flatulence	HP:0040282	ORPHA:35122
6476	SI	HP:0033597	Decreased mucosal sucrase-isomaltase activity	-	OMIM:222900
6476	SI	HP:0000007	Autosomal recessive inheritance	-	OMIM:222900
6476	SI	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:35122
6476	SI	HP:0002024	Malabsorption	-	OMIM:222900
6476	SI	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:35122
6476	SI	HP:0002018	Nausea	HP:0040282	ORPHA:35122
6476	SI	HP:0002019	Constipation	HP:0040282	ORPHA:35122
6476	SI	HP:0002027	Abdominal pain	-	OMIM:222900
6476	SI	HP:0002027	Abdominal pain	HP:0040281	ORPHA:35122
6476	SI	HP:0002014	Diarrhea	1/1	OMIM:222900
6476	SI	HP:0002014	Diarrhea	HP:0040281	ORPHA:35122
6476	SI	HP:0002013	Vomiting	HP:0040282	ORPHA:35122
6476	SI	HP:0011848	Abdominal colic	HP:0040283	ORPHA:35122
6476	SI	HP:0003593	Infantile onset	1/1	OMIM:222900
6476	SI	HP:0025085	Bloody diarrhea	HP:0040283	ORPHA:35122
6476	SI	HP:0004396	Poor appetite	HP:0040282	ORPHA:35122
6476	SI	HP:0000787	Nephrolithiasis	-	OMIM:222900
6476	SI	HP:0003270	Abdominal distention	HP:0040283	ORPHA:35122
6476	SI	HP:0001508	Failure to thrive	HP:0040284	ORPHA:35122
6476	SI	HP:0012378	Fatigue	HP:0040283	ORPHA:35122
6477	SIAH1	HP:0008551	Microtia	5/5	OMIM:619314
6477	SIAH1	HP:0001270	Motor delay	4/5	OMIM:619314
6477	SIAH1	HP:0025325	Sparse medial eyebrow	5/5	OMIM:619314
6477	SIAH1	HP:0000047	Hypospadias	1/3	OMIM:619314
6477	SIAH1	HP:0000028	Cryptorchidism	2/3	OMIM:619314
6477	SIAH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619314
6477	SIAH1	HP:0000193	Bifid uvula	1/5	OMIM:619314
6477	SIAH1	HP:0000176	Submucous cleft hard palate	2/5	OMIM:619314
6477	SIAH1	HP:0008947	Floppy infant	5/5	OMIM:619314
6477	SIAH1	HP:0002020	Gastroesophageal reflux	4/5	OMIM:619314
6477	SIAH1	HP:0003577	Congenital onset	5/5	OMIM:619314
6477	SIAH1	HP:0004209	Clinodactyly of the 5th finger	4/5	OMIM:619314
6477	SIAH1	HP:0010055	Broad hallux	2/5	OMIM:619314
6477	SIAH1	HP:0011304	Broad thumb	2/5	OMIM:619314
6477	SIAH1	HP:0000750	Delayed speech and language development	5/5	OMIM:619314
6477	SIAH1	HP:0000286	Epicanthus	4/5	OMIM:619314
6477	SIAH1	HP:0000220	Velopharyngeal insufficiency	1/5	OMIM:619314
6477	SIAH1	HP:0000218	High palate	2/5	OMIM:619314
6477	SIAH1	HP:0006532	Recurrent pneumonia	2/5	OMIM:619314
6477	SIAH1	HP:0001601	Laryngomalacia	4/5	OMIM:619314
6477	SIAH1	HP:0000358	Posteriorly rotated ears	5/5	OMIM:619314
6477	SIAH1	HP:0000369	Low-set ears	5/5	OMIM:619314
6477	SIAH1	HP:0000316	Hypertelorism	5/5	OMIM:619314
6477	SIAH1	HP:0001631	Atrial septal defect	1/5	OMIM:619314
6477	SIAH1	HP:0000486	Strabismus	1/5	OMIM:619314
6477	SIAH1	HP:0000494	Downslanted palpebral fissures	3/5	OMIM:619314
6477	SIAH1	HP:0001792	Small nail	1/5	OMIM:619314
6477	SIAH1	HP:0000508	Ptosis	1/5	OMIM:619314
6477	SIAH1	HP:0000577	Exotropia	1/5	OMIM:619314
6477	SIAH1	HP:0000565	Esotropia	1/5	OMIM:619314
6477	SIAH1	HP:0012520	Dilation of Virchow-Robin spaces	1/5	OMIM:619314
6487	ST3GAL3	HP:0002476	Primitive reflex	1/1	OMIM:615006
6487	ST3GAL3	HP:0001252	Hypotonia	1/1	OMIM:615006
6487	ST3GAL3	HP:0001249	Intellectual disability	-	OMIM:611090
6487	ST3GAL3	HP:0002540	Inability to walk	-	OMIM:615006
6487	ST3GAL3	HP:0002521	Hypsarrhythmia	1/1	OMIM:615006
6487	ST3GAL3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615006
6487	ST3GAL3	HP:0000007	Autosomal recessive inheritance	-	OMIM:611090
6487	ST3GAL3	HP:0002069	Bilateral tonic-clonic seizure	1/4	OMIM:615006
6487	ST3GAL3	HP:0002187	Intellectual disability, profound	-	OMIM:615006
6487	ST3GAL3	HP:0002266	Focal clonic seizure	1/4	OMIM:615006
6487	ST3GAL3	HP:0003593	Infantile onset	4/4	OMIM:615006
6487	ST3GAL3	HP:0200134	Epileptic encephalopathy	4/4	OMIM:615006
6487	ST3GAL3	HP:0010819	Atonic seizure	2/4	OMIM:615006
6487	ST3GAL3	HP:0011344	Severe global developmental delay	4/4	OMIM:615006
6487	ST3GAL3	HP:0000737	Irritability	1/1	OMIM:615006
6487	ST3GAL3	HP:0000817	Reduced eye contact	1/1	OMIM:615006
6487	ST3GAL3	HP:0011097	Epileptic spasm	4/4	OMIM:615006
6487	ST3GAL3	HP:0032792	Tonic seizure	1/4	OMIM:615006
6487	ST3GAL3	HP:0032794	Myoclonic seizure	1/4	OMIM:615006
6491	STIL	HP:0002465	Poor speech	HP:0040283	ORPHA:93926
6491	STIL	HP:0002465	Poor speech	HP:0040282	ORPHA:93924
6491	STIL	HP:0002465	Poor speech	HP:0040283	ORPHA:93925
6491	STIL	HP:0002465	Poor speech	HP:0040283	ORPHA:220386
6491	STIL	HP:0002474	Expressive language delay	HP:0040282	ORPHA:280195
6491	STIL	HP:0002451	Limb dystonia	HP:0040282	ORPHA:220386
6491	STIL	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93926
6491	STIL	HP:0002451	Limb dystonia	HP:0040283	ORPHA:93924
6491	STIL	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93925
6491	STIL	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:220386
6491	STIL	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93926
6491	STIL	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:93924
6491	STIL	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93925
6491	STIL	HP:0009932	Single naris	HP:0040283	ORPHA:220386
6491	STIL	HP:0009932	Single naris	HP:0040283	ORPHA:93926
6491	STIL	HP:0009932	Single naris	HP:0040284	ORPHA:93924
6491	STIL	HP:0009932	Single naris	HP:0040283	ORPHA:93925
6491	STIL	HP:0009914	Cyclopia	HP:0040283	ORPHA:220386
6491	STIL	HP:0009914	Cyclopia	HP:0040283	ORPHA:93926
6491	STIL	HP:0009914	Cyclopia	HP:0040284	ORPHA:93924
6491	STIL	HP:0009914	Cyclopia	HP:0040283	ORPHA:93925
6491	STIL	HP:0010864	Intellectual disability, severe	3/3	OMIM:612703
6491	STIL	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
6491	STIL	HP:0009879	Simplified gyral pattern	2/2	OMIM:612703
6491	STIL	HP:0002418	Abnormal midbrain morphology	HP:0040282	ORPHA:280195
6491	STIL	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:280195
6491	STIL	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93926
6491	STIL	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93924
6491	STIL	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93925
6491	STIL	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220386
6491	STIL	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
6491	STIL	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:280195
6491	STIL	HP:0001254	Lethargy	HP:0040282	ORPHA:93926
6491	STIL	HP:0001254	Lethargy	HP:0040283	ORPHA:93924
6491	STIL	HP:0001254	Lethargy	HP:0040282	ORPHA:93925
6491	STIL	HP:0001254	Lethargy	HP:0040282	ORPHA:220386
6491	STIL	HP:0001250	Seizure	HP:0040282	ORPHA:220386
6491	STIL	HP:0001250	Seizure	HP:0040282	ORPHA:93926
6491	STIL	HP:0001250	Seizure	HP:0040283	ORPHA:93924
6491	STIL	HP:0001250	Seizure	HP:0040282	ORPHA:93925
6491	STIL	HP:0001250	Seizure	0/3	OMIM:612703
6491	STIL	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280195
6491	STIL	HP:0001249	Intellectual disability	HP:0040282	ORPHA:220386
6491	STIL	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93926
6491	STIL	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93924
6491	STIL	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93925
6491	STIL	HP:0001249	Intellectual disability	8/8	OMIM:612703
6491	STIL	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
6491	STIL	HP:0001263	Global developmental delay	11/11	OMIM:612703
6491	STIL	HP:0001257	Spasticity	HP:0040282	ORPHA:93926
6491	STIL	HP:0001257	Spasticity	HP:0040283	ORPHA:93924
6491	STIL	HP:0001257	Spasticity	HP:0040282	ORPHA:93925
6491	STIL	HP:0001257	Spasticity	HP:0040282	ORPHA:220386
6491	STIL	HP:0007375	Abnormal septum pellucidum morphology	HP:0040283	ORPHA:280195
6491	STIL	HP:0007330	Frontoethmoidal encephalocele	HP:0040283	ORPHA:280195
6491	STIL	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
6491	STIL	HP:0002540	Inability to walk	HP:0040282	ORPHA:93926
6491	STIL	HP:0002540	Inability to walk	HP:0040284	ORPHA:93924
6491	STIL	HP:0002540	Inability to walk	HP:0040282	ORPHA:93925
6491	STIL	HP:0002540	Inability to walk	HP:0040282	ORPHA:220386
6491	STIL	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
6491	STIL	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93926
6491	STIL	HP:0001371	Flexion contracture	HP:0040284	ORPHA:93924
6491	STIL	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93925
6491	STIL	HP:0001371	Flexion contracture	HP:0040283	ORPHA:220386
6491	STIL	HP:0001355	Megalencephaly	HP:0040283	ORPHA:280195
6491	STIL	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
6491	STIL	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93926
6491	STIL	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93924
6491	STIL	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93925
6491	STIL	HP:0001328	Specific learning disability	HP:0040282	ORPHA:280195
6491	STIL	HP:0001328	Specific learning disability	HP:0040282	ORPHA:220386
6491	STIL	HP:0001344	Absent speech	HP:0040282	ORPHA:93926
6491	STIL	HP:0001344	Absent speech	HP:0040284	ORPHA:93924
6491	STIL	HP:0001344	Absent speech	HP:0040282	ORPHA:93925
6491	STIL	HP:0001344	Absent speech	3/3	OMIM:612703
6491	STIL	HP:0001344	Absent speech	HP:0040282	ORPHA:220386
6491	STIL	HP:0000007	Autosomal recessive inheritance	-	OMIM:612703
6491	STIL	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
6491	STIL	HP:0002650	Scoliosis	HP:0040283	ORPHA:93926
6491	STIL	HP:0002650	Scoliosis	HP:0040283	ORPHA:93924
6491	STIL	HP:0002650	Scoliosis	HP:0040283	ORPHA:93925
6491	STIL	HP:0002650	Scoliosis	HP:0040283	ORPHA:220386
6491	STIL	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93926
6491	STIL	HP:0000193	Bifid uvula	HP:0040283	ORPHA:93924
6491	STIL	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93925
6491	STIL	HP:0000193	Bifid uvula	HP:0040282	ORPHA:220386
6491	STIL	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:220386
6491	STIL	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93926
6491	STIL	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93924
6491	STIL	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93925
6491	STIL	HP:0000175	Cleft palate	HP:0040282	ORPHA:93926
6491	STIL	HP:0000175	Cleft palate	HP:0040282	ORPHA:93924
6491	STIL	HP:0000175	Cleft palate	HP:0040282	ORPHA:93925
6491	STIL	HP:0000175	Cleft palate	HP:0040282	ORPHA:220386
6491	STIL	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:220386
6491	STIL	HP:0006315	Solitary median maxillary central incisor	0/3	OMIM:612703
6491	STIL	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93926
6491	STIL	HP:0006315	Solitary median maxillary central incisor	HP:0040284	ORPHA:93924
6491	STIL	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93925
6491	STIL	HP:0008947	Floppy infant	HP:0040282	ORPHA:93926
6491	STIL	HP:0008947	Floppy infant	HP:0040283	ORPHA:93924
6491	STIL	HP:0008947	Floppy infant	HP:0040282	ORPHA:93925
6491	STIL	HP:0008947	Floppy infant	HP:0040282	ORPHA:220386
6491	STIL	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93926
6491	STIL	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93924
6491	STIL	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93925
6491	STIL	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:220386
6491	STIL	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
6491	STIL	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:280195
6491	STIL	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:220386
6491	STIL	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93926
6491	STIL	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93924
6491	STIL	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93925
6491	STIL	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:220386
6491	STIL	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93926
6491	STIL	HP:0002793	Abnormal pattern of respiration	HP:0040283	ORPHA:93924
6491	STIL	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93925
6491	STIL	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93926
6491	STIL	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93924
6491	STIL	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93925
6491	STIL	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220386
6491	STIL	HP:0002019	Constipation	HP:0040282	ORPHA:93926
6491	STIL	HP:0002019	Constipation	HP:0040282	ORPHA:93924
6491	STIL	HP:0002019	Constipation	HP:0040282	ORPHA:93925
6491	STIL	HP:0002019	Constipation	HP:0040282	ORPHA:220386
6491	STIL	HP:0002033	Poor suck	HP:0040281	ORPHA:93926
6491	STIL	HP:0002033	Poor suck	HP:0040282	ORPHA:93924
6491	STIL	HP:0002033	Poor suck	HP:0040281	ORPHA:93925
6491	STIL	HP:0002033	Poor suck	HP:0040281	ORPHA:220386
6491	STIL	HP:0002015	Dysphagia	HP:0040282	ORPHA:93926
6491	STIL	HP:0002015	Dysphagia	HP:0040283	ORPHA:93924
6491	STIL	HP:0002015	Dysphagia	HP:0040282	ORPHA:93925
6491	STIL	HP:0002015	Dysphagia	HP:0040283	ORPHA:280195
6491	STIL	HP:0002015	Dysphagia	HP:0040282	ORPHA:220386
6491	STIL	HP:0002013	Vomiting	HP:0040282	ORPHA:93926
6491	STIL	HP:0002013	Vomiting	HP:0040283	ORPHA:93924
6491	STIL	HP:0002013	Vomiting	HP:0040282	ORPHA:93925
6491	STIL	HP:0002013	Vomiting	HP:0040282	ORPHA:220386
6491	STIL	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:220386
6491	STIL	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93926
6491	STIL	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040283	ORPHA:93924
6491	STIL	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93925
6491	STIL	HP:0005968	Temperature instability	HP:0040282	ORPHA:220386
6491	STIL	HP:0005968	Temperature instability	HP:0040282	ORPHA:93926
6491	STIL	HP:0005968	Temperature instability	HP:0040283	ORPHA:93924
6491	STIL	HP:0005968	Temperature instability	HP:0040282	ORPHA:93925
6491	STIL	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:220386
6491	STIL	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93926
6491	STIL	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93924
6491	STIL	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93925
6491	STIL	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280195
6491	STIL	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
6491	STIL	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:220386
6491	STIL	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93926
6491	STIL	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93924
6491	STIL	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93925
6491	STIL	HP:0003577	Congenital onset	14/14	OMIM:612703
6491	STIL	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93926
6491	STIL	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:93924
6491	STIL	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93925
6491	STIL	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:220386
6491	STIL	HP:0100710	Impulsivity	HP:0040282	ORPHA:280195
6491	STIL	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
6491	STIL	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:220386
6491	STIL	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93926
6491	STIL	HP:0010654	Aplasia of the falx cerebri	HP:0040283	ORPHA:93924
6491	STIL	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93925
6491	STIL	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93926
6491	STIL	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93924
6491	STIL	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93925
6491	STIL	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:220386
6491	STIL	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93926
6491	STIL	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93924
6491	STIL	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93925
6491	STIL	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:220386
6491	STIL	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:220386
6491	STIL	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93926
6491	STIL	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93924
6491	STIL	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93925
6491	STIL	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:220386
6491	STIL	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93926
6491	STIL	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:93924
6491	STIL	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93925
6491	STIL	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:220386
6491	STIL	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93926
6491	STIL	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93924
6491	STIL	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93925
6491	STIL	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93926
6491	STIL	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93924
6491	STIL	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93925
6491	STIL	HP:0000601	Hypotelorism	HP:0040281	ORPHA:220386
6491	STIL	HP:0012650	Perisylvian polymicrogyria	HP:0040283	ORPHA:280195
6491	STIL	HP:0004322	Short stature	HP:0040281	ORPHA:220386
6491	STIL	HP:0004322	Short stature	HP:0040281	ORPHA:93926
6491	STIL	HP:0004322	Short stature	HP:0040282	ORPHA:93924
6491	STIL	HP:0004322	Short stature	HP:0040281	ORPHA:93925
6491	STIL	HP:0004322	Short stature	HP:0040281	ORPHA:2512
6491	STIL	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:220386
6491	STIL	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93926
6491	STIL	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93924
6491	STIL	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93925
6491	STIL	HP:0031913	Rhombencephalosynapsis	HP:0040283	ORPHA:280195
6491	STIL	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:280195
6491	STIL	HP:0000737	Irritability	HP:0040282	ORPHA:93926
6491	STIL	HP:0000737	Irritability	HP:0040282	ORPHA:93924
6491	STIL	HP:0000737	Irritability	HP:0040282	ORPHA:93925
6491	STIL	HP:0000737	Irritability	HP:0040282	ORPHA:220386
6491	STIL	HP:0000739	Anxiety	HP:0040282	ORPHA:93926
6491	STIL	HP:0000739	Anxiety	HP:0040282	ORPHA:93924
6491	STIL	HP:0000739	Anxiety	HP:0040282	ORPHA:93925
6491	STIL	HP:0000739	Anxiety	HP:0040282	ORPHA:220386
6491	STIL	HP:0000736	Short attention span	HP:0040282	ORPHA:280195
6491	STIL	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:220386
6491	STIL	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93926
6491	STIL	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93924
6491	STIL	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93925
6491	STIL	HP:0000741	Apathy	HP:0040282	ORPHA:220386
6491	STIL	HP:0000741	Apathy	HP:0040282	ORPHA:93926
6491	STIL	HP:0000741	Apathy	HP:0040283	ORPHA:93924
6491	STIL	HP:0000741	Apathy	HP:0040282	ORPHA:93925
6491	STIL	HP:0000716	Depression	HP:0040282	ORPHA:93926
6491	STIL	HP:0000716	Depression	HP:0040282	ORPHA:93924
6491	STIL	HP:0000716	Depression	HP:0040282	ORPHA:93925
6491	STIL	HP:0000716	Depression	HP:0040282	ORPHA:220386
6491	STIL	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93926
6491	STIL	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93924
6491	STIL	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93925
6491	STIL	HP:0000708	Atypical behavior	HP:0040282	ORPHA:220386
6491	STIL	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:280195
6491	STIL	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:220386
6491	STIL	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93926
6491	STIL	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93924
6491	STIL	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93925
6491	STIL	HP:0011451	Primary microcephaly	11/11	OMIM:612703
6491	STIL	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:220386
6491	STIL	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93926
6491	STIL	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93924
6491	STIL	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93925
6491	STIL	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
6491	STIL	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93926
6491	STIL	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93924
6491	STIL	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93925
6491	STIL	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:220386
6491	STIL	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:220386
6491	STIL	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93926
6491	STIL	HP:0000873	Diabetes insipidus	HP:0040282	ORPHA:93924
6491	STIL	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93925
6491	STIL	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:220386
6491	STIL	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93926
6491	STIL	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93924
6491	STIL	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93925
6491	STIL	HP:0000863	Central diabetes insipidus	HP:0040282	ORPHA:280195
6491	STIL	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:280195
6491	STIL	HP:0012806	Proboscis	HP:0040283	ORPHA:220386
6491	STIL	HP:0012806	Proboscis	HP:0040283	ORPHA:93926
6491	STIL	HP:0012806	Proboscis	HP:0040284	ORPHA:93924
6491	STIL	HP:0012806	Proboscis	HP:0040283	ORPHA:93925
6491	STIL	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:220386
6491	STIL	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93926
6491	STIL	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:93924
6491	STIL	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93925
6491	STIL	HP:0000826	Precocious puberty	HP:0040282	ORPHA:280195
6491	STIL	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93926
6491	STIL	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93924
6491	STIL	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93925
6491	STIL	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:220386
6491	STIL	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:220386
6491	STIL	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93926
6491	STIL	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93924
6491	STIL	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93925
6491	STIL	HP:0045005	Neural tube defect	HP:0040282	ORPHA:220386
6491	STIL	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93926
6491	STIL	HP:0045005	Neural tube defect	HP:0040284	ORPHA:93924
6491	STIL	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93925
6491	STIL	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:220386
6491	STIL	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93926
6491	STIL	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93924
6491	STIL	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93925
6491	STIL	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93926
6491	STIL	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93924
6491	STIL	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93925
6491	STIL	HP:0000256	Macrocephaly	HP:0040283	ORPHA:220386
6491	STIL	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93926
6491	STIL	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93924
6491	STIL	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93925
6491	STIL	HP:0002827	Hip dislocation	HP:0040283	ORPHA:220386
6491	STIL	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93926
6491	STIL	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93924
6491	STIL	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93925
6491	STIL	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220386
6491	STIL	HP:0000252	Microcephaly	HP:0040283	ORPHA:280195
6491	STIL	HP:0000252	Microcephaly	HP:0040282	ORPHA:220386
6491	STIL	HP:0000252	Microcephaly	HP:0040282	ORPHA:93926
6491	STIL	HP:0000252	Microcephaly	HP:0040283	ORPHA:93924
6491	STIL	HP:0000252	Microcephaly	HP:0040282	ORPHA:93925
6491	STIL	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
6491	STIL	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
6491	STIL	HP:0000218	High palate	HP:0040282	ORPHA:93926
6491	STIL	HP:0000218	High palate	HP:0040282	ORPHA:93924
6491	STIL	HP:0000218	High palate	HP:0040282	ORPHA:93925
6491	STIL	HP:0000218	High palate	HP:0040282	ORPHA:220386
6491	STIL	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:280195
6491	STIL	HP:0002871	Central apnea	HP:0040282	ORPHA:220386
6491	STIL	HP:0002871	Central apnea	HP:0040282	ORPHA:93926
6491	STIL	HP:0002871	Central apnea	HP:0040283	ORPHA:93924
6491	STIL	HP:0002871	Central apnea	HP:0040282	ORPHA:93925
6491	STIL	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93926
6491	STIL	HP:0001508	Failure to thrive	HP:0040282	ORPHA:93924
6491	STIL	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93925
6491	STIL	HP:0001508	Failure to thrive	HP:0040281	ORPHA:220386
6491	STIL	HP:0001510	Growth delay	HP:0040281	ORPHA:93926
6491	STIL	HP:0001510	Growth delay	HP:0040282	ORPHA:93924
6491	STIL	HP:0001510	Growth delay	HP:0040281	ORPHA:93925
6491	STIL	HP:0001510	Growth delay	HP:0040281	ORPHA:220386
6491	STIL	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
6491	STIL	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:220386
6491	STIL	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93926
6491	STIL	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93924
6491	STIL	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93925
6491	STIL	HP:0000340	Sloping forehead	3/3	OMIM:612703
6491	STIL	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
6491	STIL	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:280195
6491	STIL	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93926
6491	STIL	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93924
6491	STIL	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93925
6491	STIL	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:220386
6491	STIL	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93926
6491	STIL	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93924
6491	STIL	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93925
6491	STIL	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:220386
6491	STIL	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93926
6491	STIL	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:93924
6491	STIL	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93925
6491	STIL	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:220386
6491	STIL	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93926
6491	STIL	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93924
6491	STIL	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93925
6491	STIL	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:220386
6491	STIL	HP:0000448	Prominent nose	3/3	OMIM:612703
6491	STIL	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
6492	SIM1	HP:0001182	Tapered finger	HP:0040283	ORPHA:171829
6492	SIM1	HP:0002494	Abnormal rapid eye movement sleep	HP:0040283	ORPHA:398079
6492	SIM1	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:171829
6492	SIM1	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:398079
6492	SIM1	HP:0008551	Microtia	HP:0040283	ORPHA:171829
6492	SIM1	HP:0001270	Motor delay	HP:0040281	ORPHA:398079
6492	SIM1	HP:0025237	Confusional arousal	HP:0040283	ORPHA:398079
6492	SIM1	HP:0001254	Lethargy	HP:0040283	ORPHA:398079
6492	SIM1	HP:0001250	Seizure	HP:0040283	ORPHA:398079
6492	SIM1	HP:0001252	Hypotonia	-	ORPHA:369873
6492	SIM1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:398079
6492	SIM1	HP:0002591	Polyphagia	HP:0040281	ORPHA:369873
6492	SIM1	HP:0002591	Polyphagia	HP:0040282	ORPHA:171829
6492	SIM1	HP:0002591	Polyphagia	HP:0040282	ORPHA:398079
6492	SIM1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:171829
6492	SIM1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:369873
6492	SIM1	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:398079
6492	SIM1	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:398079
6492	SIM1	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:398079
6492	SIM1	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:398079
6492	SIM1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:398079
6492	SIM1	HP:0000046	Small scrotum	HP:0040282	ORPHA:398079
6492	SIM1	HP:0000054	Micropenis	HP:0040283	ORPHA:398079
6492	SIM1	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:398079
6492	SIM1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:398079
6492	SIM1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:171829
6492	SIM1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:398079
6492	SIM1	HP:0002650	Scoliosis	HP:0040282	ORPHA:398079
6492	SIM1	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:171829
6492	SIM1	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:398079
6492	SIM1	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:398079
6492	SIM1	HP:0002615	Hypotension	HP:0040281	ORPHA:369873
6492	SIM1	HP:0012166	Skin-picking	HP:0040282	ORPHA:398079
6492	SIM1	HP:0000135	Hypogonadism	HP:0040281	ORPHA:398079
6492	SIM1	HP:0008947	Floppy infant	HP:0040281	ORPHA:398079
6492	SIM1	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:398079
6492	SIM1	HP:0002033	Poor suck	HP:0040282	ORPHA:171829
6492	SIM1	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:398079
6492	SIM1	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:369873
6492	SIM1	HP:0100503	Decreased circulating vitamin B1 concentration	HP:0040281	ORPHA:369873
6492	SIM1	HP:0008197	Absence of pubertal development	HP:0040282	ORPHA:398079
6492	SIM1	HP:0040288	Nasogastric tube feeding	HP:0040282	ORPHA:398079
6492	SIM1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:398079
6492	SIM1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:398079
6492	SIM1	HP:0002136	Broad-based gait	HP:0040283	ORPHA:171829
6492	SIM1	HP:0010536	Central sleep apnea	HP:0040283	ORPHA:398079
6492	SIM1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:398079
6492	SIM1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:369873
6492	SIM1	HP:0011968	Feeding difficulties	-	ORPHA:369873
6492	SIM1	HP:0002370	Poor coordination	HP:0040283	ORPHA:171829
6492	SIM1	HP:0001010	Hypopigmentation of the skin	HP:0040283	ORPHA:398079
6492	SIM1	HP:0002354	Memory impairment	HP:0040282	ORPHA:369873
6492	SIM1	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:398079
6492	SIM1	HP:0200055	Small hand	HP:0040282	ORPHA:398079
6492	SIM1	HP:0005599	Hypopigmentation of hair	HP:0040283	ORPHA:398079
6492	SIM1	HP:0001952	Glucose intolerance	HP:0040283	ORPHA:369873
6492	SIM1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:171829
6492	SIM1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:398079
6492	SIM1	HP:0004322	Short stature	-	ORPHA:369873
6492	SIM1	HP:0012743	Abdominal obesity	HP:0040282	ORPHA:398079
6492	SIM1	HP:0000765	Abnormal thorax morphology	HP:0040283	ORPHA:171829
6492	SIM1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:171829
6492	SIM1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:398079
6492	SIM1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:369873
6492	SIM1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:171829
6492	SIM1	HP:0000729	Autistic behavior	HP:0040282	ORPHA:398079
6492	SIM1	HP:0000709	Psychosis	HP:0040283	ORPHA:398079
6492	SIM1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:398079
6492	SIM1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:398079
6492	SIM1	HP:0000789	Infertility	HP:0040281	ORPHA:398079
6492	SIM1	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:398079
6492	SIM1	HP:0000842	Hyperinsulinemia	HP:0040281	ORPHA:369873
6492	SIM1	HP:0000826	Precocious puberty	HP:0040283	ORPHA:398079
6492	SIM1	HP:0040030	Chorioretinal hypopigmentation	HP:0040283	ORPHA:398079
6492	SIM1	HP:0003241	External genital hypoplasia	HP:0040282	ORPHA:398079
6492	SIM1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:398079
6492	SIM1	HP:0000938	Osteopenia	HP:0040283	ORPHA:398079
6492	SIM1	HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency	HP:0040282	ORPHA:398079
6492	SIM1	HP:0000278	Retrognathia	HP:0040283	ORPHA:171829
6492	SIM1	HP:0000293	Full cheeks	HP:0040282	ORPHA:171829
6492	SIM1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:171829
6492	SIM1	HP:0000217	Xerostomia	HP:0040283	ORPHA:398079
6492	SIM1	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:398079
6492	SIM1	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:398079
6492	SIM1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:398079
6492	SIM1	HP:0001513	Obesity	HP:0040281	ORPHA:369873
6492	SIM1	HP:0001513	Obesity	HP:0040281	ORPHA:171829
6492	SIM1	HP:0001513	Obesity	HP:0040281	ORPHA:398079
6492	SIM1	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:171829
6492	SIM1	HP:0007874	Almond-shaped palpebral fissure	HP:0040283	ORPHA:398079
6492	SIM1	HP:0001612	Weak cry	HP:0040282	ORPHA:398079
6492	SIM1	HP:0012339	Increased resting energy expenditure	-	ORPHA:369873
6492	SIM1	HP:0000369	Low-set ears	HP:0040283	ORPHA:171829
6492	SIM1	HP:0000341	Narrow forehead	HP:0040282	ORPHA:171829
6492	SIM1	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040281	ORPHA:369873
6492	SIM1	HP:0000337	Broad forehead	HP:0040283	ORPHA:171829
6492	SIM1	HP:0000347	Micrognathia	HP:0040283	ORPHA:171829
6492	SIM1	HP:0005307	Postural hypotension with compensatory tachycardia	HP:0040281	ORPHA:369873
6492	SIM1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:171829
6492	SIM1	HP:0000486	Strabismus	HP:0040282	ORPHA:171829
6492	SIM1	HP:0000486	Strabismus	HP:0040282	ORPHA:398079
6492	SIM1	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:171829
6492	SIM1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:171829
6492	SIM1	HP:0001773	Short foot	HP:0040282	ORPHA:398079
6492	SIM1	HP:0012411	Premature pubarche	HP:0040283	ORPHA:398079
6492	SIM1	HP:0012412	Premature adrenarche	HP:0040283	ORPHA:398079
6492	SIM1	HP:0000446	Narrow nasal bridge	HP:0040283	ORPHA:398079
6492	SIM1	HP:0000414	Bulbous nose	HP:0040283	ORPHA:171829
6492	SIM1	HP:0031703	Abnormal ear morphology	HP:0040283	ORPHA:171829
6492	SIM1	HP:0012506	Small pituitary gland	HP:0040282	ORPHA:398079
6492	SIM1	HP:0001833	Long foot	HP:0040283	ORPHA:171829
6492	SIM1	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:171829
6492	SIM1	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:171829
6495	SIX1	HP:0008609	Abnormal middle ear morphology	HP:0040282	ORPHA:52429
6495	SIX1	HP:0008586	Hypoplasia of the cochlea	6/15	OMIM:113650
6495	SIX1	HP:0008586	Hypoplasia of the cochlea	HP:0040282	ORPHA:107
6495	SIX1	HP:0008551	Microtia	2/15	OMIM:113650
6495	SIX1	HP:0008551	Microtia	HP:0040283	ORPHA:107
6495	SIX1	HP:0002566	Intestinal malrotation	-	OMIM:113650
6495	SIX1	HP:0008678	Renal hypoplasia/aplasia	HP:0040282	ORPHA:107
6495	SIX1	HP:0003829	Typified by incomplete penetrance	-	OMIM:113650
6495	SIX1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:107
6495	SIX1	HP:0000076	Vesicoureteral reflux	1/13	OMIM:113650
6495	SIX1	HP:0000076	Vesicoureteral reflux	-	OMIM:605192
6495	SIX1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:107
6495	SIX1	HP:0000074	Ureteropelvic junction obstruction	HP:0040283	ORPHA:107
6495	SIX1	HP:0001374	Congenital hip dislocation	-	OMIM:113650
6495	SIX1	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:107
6495	SIX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:608389
6495	SIX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:113650
6495	SIX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:605192
6495	SIX1	HP:0000193	Bifid uvula	-	OMIM:113650
6495	SIX1	HP:0000175	Cleft palate	-	OMIM:113650
6495	SIX1	HP:0000175	Cleft palate	HP:0040283	ORPHA:107
6495	SIX1	HP:0000175	Cleft palate	HP:0040283	ORPHA:52429
6495	SIX1	HP:0007678	Lacrimal duct stenosis	-	OMIM:113650
6495	SIX1	HP:0007678	Lacrimal duct stenosis	-	OMIM:608389
6495	SIX1	HP:0000122	Unilateral renal agenesis	2/13	OMIM:113650
6495	SIX1	HP:0000113	Polycystic kidney dysplasia	-	OMIM:113650
6495	SIX1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:107
6495	SIX1	HP:0000110	Renal dysplasia	1/13	OMIM:113650
6495	SIX1	HP:0002710	Commissural lip pit	-	OMIM:608389
6495	SIX1	HP:0002060	Abnormal cerebral morphology	-	OMIM:113650
6495	SIX1	HP:0100581	Dilatation of renal calices	HP:0040283	ORPHA:107
6495	SIX1	HP:0004742	Abnormal renal collecting system morphology	-	OMIM:113650
6495	SIX1	HP:0004712	Renal malrotation	-	OMIM:113650
6495	SIX1	HP:0010628	Facial palsy	-	OMIM:113650
6495	SIX1	HP:0010628	Facial palsy	HP:0040283	ORPHA:107
6495	SIX1	HP:0010628	Facial palsy	HP:0040283	ORPHA:52429
6495	SIX1	HP:0009795	Branchial fistula	HP:0040282	ORPHA:52429
6495	SIX1	HP:0009795	Branchial fistula	11/16	OMIM:113650
6495	SIX1	HP:0009794	Branchial anomaly	HP:0040282	ORPHA:107
6495	SIX1	HP:0009797	Cholesteatoma	-	OMIM:113650
6495	SIX1	HP:0009796	Branchial cyst	-	OMIM:608389
6495	SIX1	HP:0009796	Branchial cyst	4/16	OMIM:113650
6495	SIX1	HP:0009796	Branchial cyst	HP:0040282	ORPHA:107
6495	SIX1	HP:0009798	Euthyroid goiter	-	OMIM:113650
6495	SIX1	HP:0009798	Euthyroid goiter	HP:0040283	ORPHA:107
6495	SIX1	HP:0011388	Enlarged cochlear aqueduct	HP:0040282	ORPHA:107
6495	SIX1	HP:0011395	Aplasia/Hypoplasia of the cochlea	HP:0040282	ORPHA:107
6495	SIX1	HP:0000632	Lacrimation abnormality	-	OMIM:113650
6495	SIX1	HP:0000614	Abnormal nasolacrimal system morphology	HP:0040283	ORPHA:52429
6495	SIX1	HP:0011387	Enlarged vestibular aqueduct	5/15	OMIM:113650
6495	SIX1	HP:0011387	Enlarged vestibular aqueduct	HP:0040282	ORPHA:107
6495	SIX1	HP:0011342	Mild global developmental delay	2/17	OMIM:113650
6495	SIX1	HP:0000691	Microdontia	-	OMIM:113650
6495	SIX1	HP:0011481	Abnormal lacrimal duct morphology	HP:0040283	ORPHA:107
6495	SIX1	HP:0000799	Renal steatosis	-	OMIM:113650
6495	SIX1	HP:0004452	Abnormality of the middle ear ossicles	HP:0040282	ORPHA:107
6495	SIX1	HP:0040106	Abnormal lateral semicircular canal morphology	HP:0040283	ORPHA:107
6495	SIX1	HP:0004467	Preauricular pit	12/16	OMIM:113650
6495	SIX1	HP:0004467	Preauricular pit	HP:0040281	ORPHA:107
6495	SIX1	HP:0004467	Preauricular pit	HP:0040281	ORPHA:52429
6495	SIX1	HP:0004467	Preauricular pit	HP:0040283	OMIM:605192
6495	SIX1	HP:0004467	Preauricular pit	-	OMIM:608389
6495	SIX1	HP:0004458	Dilatated internal auditory canal	-	OMIM:113650
6495	SIX1	HP:0100267	Lip pit	HP:0040283	ORPHA:52429
6495	SIX1	HP:0100274	Gustatory lacrimation	1/17	OMIM:113650
6495	SIX1	HP:0100274	Gustatory lacrimation	HP:0040283	ORPHA:107
6495	SIX1	HP:0100272	Branchial sinus	HP:0040282	ORPHA:107
6495	SIX1	HP:0000278	Retrognathia	HP:0040283	ORPHA:107
6495	SIX1	HP:0000275	Narrow face	-	OMIM:113650
6495	SIX1	HP:0000276	Long face	-	OMIM:113650
6495	SIX1	HP:0000218	High palate	1/17	OMIM:113650
6495	SIX1	HP:0011094	Increased overbite	-	OMIM:113650
6495	SIX1	HP:0000384	Preauricular skin tag	-	OMIM:113650
6495	SIX1	HP:0000384	Preauricular skin tag	HP:0040282	ORPHA:107
6495	SIX1	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:52429
6495	SIX1	HP:0000384	Preauricular skin tag	-	OMIM:608389
6495	SIX1	HP:0000378	Cupped ear	6/15	OMIM:113650
6495	SIX1	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:107
6495	SIX1	HP:0000394	Lop ear	HP:0040282	ORPHA:107
6495	SIX1	HP:0000365	Hearing impairment	HP:0040281	ORPHA:107
6495	SIX1	HP:0000365	Hearing impairment	HP:0040281	ORPHA:52429
6495	SIX1	HP:0000359	Abnormality of the inner ear	HP:0040282	ORPHA:52429
6495	SIX1	HP:0000359	Abnormality of the inner ear	HP:0040281	ORPHA:107
6495	SIX1	HP:0000356	Abnormality of the outer ear	HP:0040283	ORPHA:107
6495	SIX1	HP:0000356	Abnormality of the outer ear	HP:0040282	ORPHA:52429
6495	SIX1	HP:0000376	Incomplete partition of the cochlea type II	1/17	OMIM:113650
6495	SIX1	HP:0000370	Abnormality of the middle ear	HP:0040281	ORPHA:107
6495	SIX1	HP:0000347	Micrognathia	HP:0040283	ORPHA:52429
6495	SIX1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:107
6495	SIX1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:52429
6495	SIX1	HP:0007925	Lacrimal duct aplasia	-	OMIM:113650
6495	SIX1	HP:0007925	Lacrimal duct aplasia	HP:0040283	ORPHA:107
6495	SIX1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:107
6495	SIX1	HP:0000407	Sensorineural hearing impairment	-	OMIM:113650
6495	SIX1	HP:0000407	Sensorineural hearing impairment	-	OMIM:608389
6495	SIX1	HP:0000407	Sensorineural hearing impairment	-	OMIM:605192
6495	SIX1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:52429
6495	SIX1	HP:0000405	Conductive hearing impairment	7/17	OMIM:113650
6495	SIX1	HP:0000405	Conductive hearing impairment	HP:0040282	OMIM:605192
6495	SIX1	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:107
6495	SIX1	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:52429
6495	SIX1	HP:0000402	Stenosis of the external auditory canal	-	OMIM:113650
6495	SIX1	HP:0000402	Stenosis of the external auditory canal	HP:0040282	ORPHA:107
6495	SIX1	HP:0000410	Mixed hearing impairment	4/17	OMIM:113650
6495	SIX1	HP:0000410	Mixed hearing impairment	HP:0040282	ORPHA:107
6495	SIX1	HP:0000413	Atresia of the external auditory canal	HP:0040282	ORPHA:107
6495	SIX1	HP:0000413	Atresia of the external auditory canal	HP:0040282	ORPHA:52429
6496	SIX3	HP:0002465	Poor speech	HP:0040283	ORPHA:93926
6496	SIX3	HP:0002465	Poor speech	HP:0040282	ORPHA:93924
6496	SIX3	HP:0002465	Poor speech	HP:0040283	ORPHA:93925
6496	SIX3	HP:0002465	Poor speech	HP:0040283	ORPHA:220386
6496	SIX3	HP:0002474	Expressive language delay	HP:0040282	ORPHA:280195
6496	SIX3	HP:0002451	Limb dystonia	HP:0040282	ORPHA:220386
6496	SIX3	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93926
6496	SIX3	HP:0002451	Limb dystonia	HP:0040283	ORPHA:93924
6496	SIX3	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93925
6496	SIX3	HP:0010941	Aplasia of the nasal bone	1/4	OMIM:157170
6496	SIX3	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:220386
6496	SIX3	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93926
6496	SIX3	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:93924
6496	SIX3	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93925
6496	SIX3	HP:0009932	Single naris	HP:0040283	ORPHA:220386
6496	SIX3	HP:0009932	Single naris	HP:0040283	ORPHA:93926
6496	SIX3	HP:0009932	Single naris	HP:0040284	ORPHA:93924
6496	SIX3	HP:0009932	Single naris	HP:0040283	ORPHA:93925
6496	SIX3	HP:0009914	Cyclopia	HP:0040283	ORPHA:280200
6496	SIX3	HP:0009914	Cyclopia	HP:0040283	ORPHA:220386
6496	SIX3	HP:0009914	Cyclopia	HP:0040283	ORPHA:93926
6496	SIX3	HP:0009914	Cyclopia	HP:0040284	ORPHA:93924
6496	SIX3	HP:0009914	Cyclopia	HP:0040283	ORPHA:93925
6496	SIX3	HP:0009914	Cyclopia	-	OMIM:157170
6496	SIX3	HP:0002418	Abnormal midbrain morphology	HP:0040282	ORPHA:280195
6496	SIX3	HP:0003745	Sporadic	-	OMIM:157170
6496	SIX3	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:280195
6496	SIX3	HP:0001290	Generalized hypotonia	-	OMIM:157170
6496	SIX3	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280200
6496	SIX3	HP:0001274	Agenesis of corpus callosum	-	OMIM:269160
6496	SIX3	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93926
6496	SIX3	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93924
6496	SIX3	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93925
6496	SIX3	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220386
6496	SIX3	HP:0001274	Agenesis of corpus callosum	-	OMIM:157170
6496	SIX3	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:280195
6496	SIX3	HP:0001254	Lethargy	HP:0040282	ORPHA:93926
6496	SIX3	HP:0001254	Lethargy	HP:0040283	ORPHA:93924
6496	SIX3	HP:0001254	Lethargy	HP:0040282	ORPHA:93925
6496	SIX3	HP:0001254	Lethargy	HP:0040282	ORPHA:220386
6496	SIX3	HP:0001250	Seizure	HP:0040282	ORPHA:220386
6496	SIX3	HP:0001250	Seizure	-	OMIM:157170
6496	SIX3	HP:0001250	Seizure	HP:0040283	ORPHA:280200
6496	SIX3	HP:0001250	Seizure	HP:0040282	ORPHA:93926
6496	SIX3	HP:0001250	Seizure	HP:0040283	ORPHA:93924
6496	SIX3	HP:0001250	Seizure	HP:0040282	ORPHA:93925
6496	SIX3	HP:0001252	Hypotonia	-	OMIM:157170
6496	SIX3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280195
6496	SIX3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:220386
6496	SIX3	HP:0001249	Intellectual disability	-	OMIM:157170
6496	SIX3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280200
6496	SIX3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93926
6496	SIX3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93924
6496	SIX3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93925
6496	SIX3	HP:0001263	Global developmental delay	1/1	OMIM:157170
6496	SIX3	HP:0001257	Spasticity	HP:0040282	ORPHA:93926
6496	SIX3	HP:0001257	Spasticity	HP:0040283	ORPHA:93924
6496	SIX3	HP:0001257	Spasticity	HP:0040282	ORPHA:93925
6496	SIX3	HP:0001257	Spasticity	HP:0040282	ORPHA:220386
6496	SIX3	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:280200
6496	SIX3	HP:0007375	Abnormal septum pellucidum morphology	HP:0040283	ORPHA:280195
6496	SIX3	HP:0007330	Frontoethmoidal encephalocele	HP:0040283	ORPHA:280195
6496	SIX3	HP:0002540	Inability to walk	HP:0040282	ORPHA:93926
6496	SIX3	HP:0002540	Inability to walk	HP:0040284	ORPHA:93924
6496	SIX3	HP:0002540	Inability to walk	HP:0040282	ORPHA:93925
6496	SIX3	HP:0002540	Inability to walk	HP:0040282	ORPHA:220386
6496	SIX3	HP:0003829	Typified by incomplete penetrance	-	OMIM:157170
6496	SIX3	HP:0002507	Semilobar holoprosencephaly	1/4	OMIM:157170
6496	SIX3	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:280200
6496	SIX3	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93926
6496	SIX3	HP:0001371	Flexion contracture	HP:0040284	ORPHA:93924
6496	SIX3	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93925
6496	SIX3	HP:0001371	Flexion contracture	HP:0040283	ORPHA:220386
6496	SIX3	HP:0001355	Megalencephaly	HP:0040283	ORPHA:280195
6496	SIX3	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:280200
6496	SIX3	HP:0001360	Holoprosencephaly	-	OMIM:157170
6496	SIX3	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93926
6496	SIX3	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93924
6496	SIX3	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93925
6496	SIX3	HP:0001328	Specific learning disability	HP:0040282	ORPHA:280195
6496	SIX3	HP:0001328	Specific learning disability	HP:0040282	ORPHA:220386
6496	SIX3	HP:0001344	Absent speech	HP:0040282	ORPHA:93926
6496	SIX3	HP:0001344	Absent speech	HP:0040284	ORPHA:93924
6496	SIX3	HP:0001344	Absent speech	HP:0040282	ORPHA:93925
6496	SIX3	HP:0001344	Absent speech	HP:0040282	ORPHA:220386
6496	SIX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:157170
6496	SIX3	HP:0002650	Scoliosis	HP:0040283	ORPHA:93926
6496	SIX3	HP:0002650	Scoliosis	HP:0040283	ORPHA:93924
6496	SIX3	HP:0002650	Scoliosis	HP:0040283	ORPHA:93925
6496	SIX3	HP:0002650	Scoliosis	HP:0040283	ORPHA:220386
6496	SIX3	HP:0002650	Scoliosis	-	OMIM:157170
6496	SIX3	HP:0002650	Scoliosis	HP:0040283	ORPHA:280200
6496	SIX3	HP:0001321	Cerebellar hypoplasia	-	OMIM:157170
6496	SIX3	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93926
6496	SIX3	HP:0000193	Bifid uvula	HP:0040283	ORPHA:93924
6496	SIX3	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93925
6496	SIX3	HP:0000193	Bifid uvula	HP:0040282	ORPHA:220386
6496	SIX3	HP:0000193	Bifid uvula	-	OMIM:157170
6496	SIX3	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:220386
6496	SIX3	HP:0000161	Median cleft upper lip	-	OMIM:157170
6496	SIX3	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93926
6496	SIX3	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93924
6496	SIX3	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93925
6496	SIX3	HP:0000176	Submucous cleft hard palate	-	OMIM:157170
6496	SIX3	HP:0000175	Cleft palate	HP:0040283	ORPHA:280200
6496	SIX3	HP:0000175	Cleft palate	HP:0040282	ORPHA:93926
6496	SIX3	HP:0000175	Cleft palate	HP:0040282	ORPHA:93924
6496	SIX3	HP:0000175	Cleft palate	HP:0040282	ORPHA:93925
6496	SIX3	HP:0000175	Cleft palate	HP:0040282	ORPHA:220386
6496	SIX3	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:280200
6496	SIX3	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:220386
6496	SIX3	HP:0006315	Solitary median maxillary central incisor	2/4	OMIM:157170
6496	SIX3	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93926
6496	SIX3	HP:0006315	Solitary median maxillary central incisor	HP:0040284	ORPHA:93924
6496	SIX3	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93925
6496	SIX3	HP:0008947	Floppy infant	HP:0040282	ORPHA:93926
6496	SIX3	HP:0008947	Floppy infant	HP:0040283	ORPHA:93924
6496	SIX3	HP:0008947	Floppy infant	HP:0040282	ORPHA:93925
6496	SIX3	HP:0008947	Floppy infant	HP:0040282	ORPHA:220386
6496	SIX3	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93926
6496	SIX3	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93924
6496	SIX3	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93925
6496	SIX3	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:220386
6496	SIX3	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:280195
6496	SIX3	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:220386
6496	SIX3	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93926
6496	SIX3	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93924
6496	SIX3	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93925
6496	SIX3	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:220386
6496	SIX3	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93926
6496	SIX3	HP:0002793	Abnormal pattern of respiration	HP:0040283	ORPHA:93924
6496	SIX3	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93925
6496	SIX3	HP:0000104	Renal agenesis	HP:0040283	ORPHA:280200
6496	SIX3	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93926
6496	SIX3	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93924
6496	SIX3	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93925
6496	SIX3	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220386
6496	SIX3	HP:0002019	Constipation	HP:0040282	ORPHA:93926
6496	SIX3	HP:0002019	Constipation	HP:0040282	ORPHA:93924
6496	SIX3	HP:0002019	Constipation	HP:0040282	ORPHA:93925
6496	SIX3	HP:0002019	Constipation	HP:0040282	ORPHA:220386
6496	SIX3	HP:0002019	Constipation	-	OMIM:157170
6496	SIX3	HP:0002033	Poor suck	HP:0040281	ORPHA:93926
6496	SIX3	HP:0002033	Poor suck	HP:0040282	ORPHA:93924
6496	SIX3	HP:0002033	Poor suck	HP:0040281	ORPHA:93925
6496	SIX3	HP:0002033	Poor suck	HP:0040281	ORPHA:220386
6496	SIX3	HP:0002015	Dysphagia	HP:0040282	ORPHA:93926
6496	SIX3	HP:0002015	Dysphagia	HP:0040283	ORPHA:93924
6496	SIX3	HP:0002015	Dysphagia	HP:0040282	ORPHA:93925
6496	SIX3	HP:0002015	Dysphagia	HP:0040283	ORPHA:280195
6496	SIX3	HP:0002015	Dysphagia	HP:0040282	ORPHA:220386
6496	SIX3	HP:0002013	Vomiting	HP:0040282	ORPHA:93926
6496	SIX3	HP:0002013	Vomiting	HP:0040283	ORPHA:93924
6496	SIX3	HP:0002013	Vomiting	HP:0040282	ORPHA:93925
6496	SIX3	HP:0002013	Vomiting	HP:0040282	ORPHA:220386
6496	SIX3	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:220386
6496	SIX3	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93926
6496	SIX3	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040283	ORPHA:93924
6496	SIX3	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93925
6496	SIX3	HP:0005968	Temperature instability	HP:0040282	ORPHA:220386
6496	SIX3	HP:0005968	Temperature instability	HP:0040282	ORPHA:93926
6496	SIX3	HP:0005968	Temperature instability	HP:0040283	ORPHA:93924
6496	SIX3	HP:0005968	Temperature instability	HP:0040282	ORPHA:93925
6496	SIX3	HP:0011800	Midface retrusion	1/4	OMIM:157170
6496	SIX3	HP:0002099	Asthma	HP:0040283	ORPHA:280200
6496	SIX3	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:220386
6496	SIX3	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93926
6496	SIX3	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93924
6496	SIX3	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93925
6496	SIX3	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280195
6496	SIX3	HP:0002120	Cerebral cortical atrophy	-	OMIM:269160
6496	SIX3	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:280200
6496	SIX3	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:220386
6496	SIX3	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93926
6496	SIX3	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93924
6496	SIX3	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93925
6496	SIX3	HP:0003577	Congenital onset	4/4	OMIM:157170
6496	SIX3	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93926
6496	SIX3	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:93924
6496	SIX3	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93925
6496	SIX3	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:220386
6496	SIX3	HP:0100710	Impulsivity	HP:0040282	ORPHA:280195
6496	SIX3	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:280200
6496	SIX3	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:220386
6496	SIX3	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93926
6496	SIX3	HP:0010654	Aplasia of the falx cerebri	HP:0040283	ORPHA:93924
6496	SIX3	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93925
6496	SIX3	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93926
6496	SIX3	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93924
6496	SIX3	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93925
6496	SIX3	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:220386
6496	SIX3	HP:0010644	Midnasal stenosis	HP:0040281	ORPHA:280200
6496	SIX3	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93926
6496	SIX3	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93924
6496	SIX3	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93925
6496	SIX3	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:220386
6496	SIX3	HP:0010636	Schizencephaly	-	OMIM:269160
6496	SIX3	HP:0010626	Anterior pituitary agenesis	-	OMIM:157170
6496	SIX3	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:220386
6496	SIX3	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93926
6496	SIX3	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93924
6496	SIX3	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93925
6496	SIX3	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:220386
6496	SIX3	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93926
6496	SIX3	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:93924
6496	SIX3	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93925
6496	SIX3	HP:0001028	Hemangioma	HP:0040283	ORPHA:280200
6496	SIX3	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:280200
6496	SIX3	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:280200
6496	SIX3	HP:0010757	Aplasia of the premaxilla	1/4	OMIM:157170
6496	SIX3	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:220386
6496	SIX3	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93926
6496	SIX3	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93924
6496	SIX3	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93925
6496	SIX3	HP:0009099	Median cleft palate	-	OMIM:157170
6496	SIX3	HP:0000612	Iris coloboma	HP:0040283	ORPHA:280200
6496	SIX3	HP:0000612	Iris coloboma	1/4	OMIM:157170
6496	SIX3	HP:0000601	Hypotelorism	HP:0040282	ORPHA:280200
6496	SIX3	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93926
6496	SIX3	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93924
6496	SIX3	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93925
6496	SIX3	HP:0000601	Hypotelorism	HP:0040281	ORPHA:220386
6496	SIX3	HP:0000601	Hypotelorism	4/4	OMIM:157170
6496	SIX3	HP:0012650	Perisylvian polymicrogyria	HP:0040283	ORPHA:280195
6496	SIX3	HP:0006988	Alobar holoprosencephaly	2/4	OMIM:157170
6496	SIX3	HP:0004322	Short stature	HP:0040281	ORPHA:220386
6496	SIX3	HP:0004322	Short stature	HP:0040282	ORPHA:280200
6496	SIX3	HP:0004322	Short stature	HP:0040281	ORPHA:93926
6496	SIX3	HP:0004322	Short stature	HP:0040282	ORPHA:93924
6496	SIX3	HP:0004322	Short stature	HP:0040281	ORPHA:93925
6496	SIX3	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:220386
6496	SIX3	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93926
6496	SIX3	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93924
6496	SIX3	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93925
6496	SIX3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:280200
6496	SIX3	HP:0031913	Rhombencephalosynapsis	HP:0040283	ORPHA:280195
6496	SIX3	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:280195
6496	SIX3	HP:0000737	Irritability	HP:0040282	ORPHA:93926
6496	SIX3	HP:0000737	Irritability	HP:0040282	ORPHA:93924
6496	SIX3	HP:0000737	Irritability	HP:0040282	ORPHA:93925
6496	SIX3	HP:0000737	Irritability	HP:0040282	ORPHA:220386
6496	SIX3	HP:0000739	Anxiety	HP:0040282	ORPHA:93926
6496	SIX3	HP:0000739	Anxiety	HP:0040282	ORPHA:93924
6496	SIX3	HP:0000739	Anxiety	HP:0040282	ORPHA:93925
6496	SIX3	HP:0000739	Anxiety	HP:0040282	ORPHA:220386
6496	SIX3	HP:0000736	Short attention span	HP:0040282	ORPHA:280195
6496	SIX3	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:220386
6496	SIX3	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93926
6496	SIX3	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93924
6496	SIX3	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93925
6496	SIX3	HP:0000741	Apathy	HP:0040282	ORPHA:220386
6496	SIX3	HP:0000741	Apathy	HP:0040282	ORPHA:93926
6496	SIX3	HP:0000741	Apathy	HP:0040283	ORPHA:93924
6496	SIX3	HP:0000741	Apathy	HP:0040282	ORPHA:93925
6496	SIX3	HP:0000716	Depression	HP:0040282	ORPHA:93926
6496	SIX3	HP:0000716	Depression	HP:0040282	ORPHA:93924
6496	SIX3	HP:0000716	Depression	HP:0040282	ORPHA:93925
6496	SIX3	HP:0000716	Depression	HP:0040282	ORPHA:220386
6496	SIX3	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93926
6496	SIX3	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93924
6496	SIX3	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93925
6496	SIX3	HP:0000708	Atypical behavior	HP:0040282	ORPHA:220386
6496	SIX3	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:280195
6496	SIX3	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:220386
6496	SIX3	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93926
6496	SIX3	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93924
6496	SIX3	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93925
6496	SIX3	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:220386
6496	SIX3	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93926
6496	SIX3	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93924
6496	SIX3	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93925
6496	SIX3	HP:0003196	Short nose	HP:0040283	ORPHA:280200
6496	SIX3	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93926
6496	SIX3	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93924
6496	SIX3	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93925
6496	SIX3	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:220386
6496	SIX3	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:220386
6496	SIX3	HP:0000873	Diabetes insipidus	-	OMIM:157170
6496	SIX3	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93926
6496	SIX3	HP:0000873	Diabetes insipidus	HP:0040282	ORPHA:93924
6496	SIX3	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93925
6496	SIX3	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:280200
6496	SIX3	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:220386
6496	SIX3	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93926
6496	SIX3	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93924
6496	SIX3	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93925
6496	SIX3	HP:0000863	Central diabetes insipidus	HP:0040282	ORPHA:280195
6496	SIX3	HP:0000835	Adrenal hypoplasia	-	OMIM:157170
6496	SIX3	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:280195
6496	SIX3	HP:0100336	Bilateral cleft lip	3/4	OMIM:157170
6496	SIX3	HP:0100337	Bilateral cleft palate	3/4	OMIM:157170
6496	SIX3	HP:0012806	Proboscis	HP:0040283	ORPHA:220386
6496	SIX3	HP:0012806	Proboscis	HP:0040283	ORPHA:93926
6496	SIX3	HP:0012806	Proboscis	HP:0040284	ORPHA:93924
6496	SIX3	HP:0012806	Proboscis	HP:0040283	ORPHA:93925
6496	SIX3	HP:0012806	Proboscis	-	OMIM:157170
6496	SIX3	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:220386
6496	SIX3	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93926
6496	SIX3	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:93924
6496	SIX3	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93925
6496	SIX3	HP:0000826	Precocious puberty	HP:0040282	ORPHA:280195
6496	SIX3	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:280200
6496	SIX3	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93926
6496	SIX3	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93924
6496	SIX3	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93925
6496	SIX3	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:220386
6496	SIX3	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:220386
6496	SIX3	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93926
6496	SIX3	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93924
6496	SIX3	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93925
6496	SIX3	HP:0045005	Neural tube defect	HP:0040282	ORPHA:220386
6496	SIX3	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93926
6496	SIX3	HP:0045005	Neural tube defect	HP:0040284	ORPHA:93924
6496	SIX3	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93925
6496	SIX3	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:220386
6496	SIX3	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93926
6496	SIX3	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93924
6496	SIX3	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93925
6496	SIX3	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93926
6496	SIX3	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93924
6496	SIX3	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93925
6496	SIX3	HP:0000256	Macrocephaly	HP:0040283	ORPHA:220386
6496	SIX3	HP:0000272	Malar flattening	-	OMIM:157170
6496	SIX3	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93926
6496	SIX3	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93924
6496	SIX3	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93925
6496	SIX3	HP:0002827	Hip dislocation	HP:0040283	ORPHA:220386
6496	SIX3	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93926
6496	SIX3	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93924
6496	SIX3	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93925
6496	SIX3	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220386
6496	SIX3	HP:0000252	Microcephaly	HP:0040283	ORPHA:280195
6496	SIX3	HP:0000252	Microcephaly	HP:0040282	ORPHA:220386
6496	SIX3	HP:0000252	Microcephaly	2/4	OMIM:157170
6496	SIX3	HP:0000252	Microcephaly	HP:0040282	ORPHA:280200
6496	SIX3	HP:0000252	Microcephaly	HP:0040282	ORPHA:93926
6496	SIX3	HP:0000252	Microcephaly	HP:0040283	ORPHA:93924
6496	SIX3	HP:0000252	Microcephaly	HP:0040282	ORPHA:93925
6496	SIX3	HP:0000218	High palate	HP:0040282	ORPHA:93926
6496	SIX3	HP:0000218	High palate	HP:0040282	ORPHA:93924
6496	SIX3	HP:0000218	High palate	HP:0040282	ORPHA:93925
6496	SIX3	HP:0000218	High palate	HP:0040282	ORPHA:220386
6496	SIX3	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:280195
6496	SIX3	HP:0002871	Central apnea	HP:0040282	ORPHA:220386
6496	SIX3	HP:0002871	Central apnea	HP:0040282	ORPHA:93926
6496	SIX3	HP:0002871	Central apnea	HP:0040283	ORPHA:93924
6496	SIX3	HP:0002871	Central apnea	HP:0040282	ORPHA:93925
6496	SIX3	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:280200
6496	SIX3	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93926
6496	SIX3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:93924
6496	SIX3	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93925
6496	SIX3	HP:0001508	Failure to thrive	HP:0040281	ORPHA:220386
6496	SIX3	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:280200
6496	SIX3	HP:0001510	Growth delay	HP:0040281	ORPHA:93926
6496	SIX3	HP:0001510	Growth delay	HP:0040282	ORPHA:93924
6496	SIX3	HP:0001510	Growth delay	HP:0040281	ORPHA:93925
6496	SIX3	HP:0001510	Growth delay	HP:0040281	ORPHA:220386
6496	SIX3	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:220386
6496	SIX3	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93926
6496	SIX3	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93924
6496	SIX3	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93925
6496	SIX3	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:280195
6496	SIX3	HP:0000322	Short philtrum	HP:0040282	ORPHA:280200
6496	SIX3	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93926
6496	SIX3	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93924
6496	SIX3	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93925
6496	SIX3	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:220386
6496	SIX3	HP:0001622	Premature birth	HP:0040282	ORPHA:280200
6496	SIX3	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:280200
6496	SIX3	HP:0007968	Remnants of the hyaloid vascular system	1/4	OMIM:157170
6496	SIX3	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93926
6496	SIX3	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93924
6496	SIX3	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93925
6496	SIX3	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:220386
6496	SIX3	HP:0005273	Absent nasal septal cartilage	-	OMIM:157170
6496	SIX3	HP:0000486	Strabismus	HP:0040283	ORPHA:280200
6496	SIX3	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93926
6496	SIX3	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:93924
6496	SIX3	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93925
6496	SIX3	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:220386
6496	SIX3	HP:0000463	Anteverted nares	HP:0040283	ORPHA:280200
6496	SIX3	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93926
6496	SIX3	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93924
6496	SIX3	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93925
6496	SIX3	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:220386
6496	SIX3	HP:0000453	Choanal atresia	HP:0040281	ORPHA:280200
6496	SIX3	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:280200
6496	SIX3	HP:0001750	Single ventricle	-	OMIM:157170
6496	SIX3	HP:0000520	Proptosis	2/4	OMIM:157170
6496	SIX3	HP:0000568	Microphthalmia	1/4	OMIM:157170
6496	SIX3	HP:0000567	Chorioretinal coloboma	1/4	OMIM:157170
6497	SKI	HP:0009901	Crumpled ear	90/119	OMIM:121050
6497	SKI	HP:0001181	Adducted thumb	42/90	OMIM:121050
6497	SKI	HP:0001156	Brachydactyly	-	OMIM:143095
6497	SKI	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1606
6497	SKI	HP:0001166	Arachnodactyly	104/124	OMIM:121050
6497	SKI	HP:0001166	Arachnodactyly	124/197	OMIM:154700
6497	SKI	HP:0001166	Arachnodactyly	34/37	OMIM:182212
6497	SKI	HP:0001166	Arachnodactyly	6/15	OMIM:208050
6497	SKI	HP:0001166	Arachnodactyly	HP:0040281	ORPHA:2462
6497	SKI	HP:0002465	Poor speech	HP:0040281	ORPHA:1606
6497	SKI	HP:0001107	Ocular albinism	HP:0040283	ORPHA:1606
6497	SKI	HP:0009882	Short distal phalanx of finger	-	OMIM:143095
6497	SKI	HP:0008551	Microtia	-	OMIM:143095
6497	SKI	HP:0008551	Microtia	HP:0040283	ORPHA:1606
6497	SKI	HP:0003745	Sporadic	-	OMIM:182212
6497	SKI	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
6497	SKI	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6497	SKI	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
6497	SKI	HP:0001293	Cranial nerve compression	-	OMIM:131300
6497	SKI	HP:0001290	Generalized hypotonia	-	OMIM:208050
6497	SKI	HP:0001290	Generalized hypotonia	-	OMIM:182212
6497	SKI	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:1606
6497	SKI	HP:0001270	Motor delay	-	OMIM:121050
6497	SKI	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1606
6497	SKI	HP:0001250	Seizure	HP:0040282	ORPHA:1606
6497	SKI	HP:0001252	Hypotonia	HP:0040281	ORPHA:2462
6497	SKI	HP:0001252	Hypotonia	HP:0040281	ORPHA:1606
6497	SKI	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
6497	SKI	HP:0001252	Hypotonia	2/7	OMIM:615777
6497	SKI	HP:0001252	Hypotonia	26/37	OMIM:182212
6497	SKI	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2462
6497	SKI	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1606
6497	SKI	HP:0001249	Intellectual disability	0/9	OMIM:143095
6497	SKI	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
6497	SKI	HP:0001249	Intellectual disability	3/20	OMIM:150250
6497	SKI	HP:0001249	Intellectual disability	5/7	OMIM:615777
6497	SKI	HP:0001249	Intellectual disability	-	OMIM:182212
6497	SKI	HP:0002591	Polyphagia	HP:0040283	ORPHA:1606
6497	SKI	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1606
6497	SKI	HP:0001263	Global developmental delay	-	OMIM:615777
6497	SKI	HP:0001263	Global developmental delay	-	OMIM:182212
6497	SKI	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
6497	SKI	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
6497	SKI	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:1606
6497	SKI	HP:0100864	Short femoral neck	-	OMIM:143095
6497	SKI	HP:0006067	Multiple carpal ossification centers	-	OMIM:143095
6497	SKI	HP:0006067	Multiple carpal ossification centers	-	OMIM:150250
6497	SKI	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:143095
6497	SKI	HP:0003883	Tapered humerus	3/16	OMIM:150250
6497	SKI	HP:0001222	Spatulate thumbs	17/18	OMIM:150250
6497	SKI	HP:0002515	Waddling gait	54/102	OMIM:131300
6497	SKI	HP:0002515	Waddling gait	-	OMIM:143095
6497	SKI	HP:0003834	Shoulder dislocation	-	OMIM:143095
6497	SKI	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
6497	SKI	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
6497	SKI	HP:0000098	Tall stature	-	OMIM:154700
6497	SKI	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:1606
6497	SKI	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:1606
6497	SKI	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:1606
6497	SKI	HP:0001377	Limited elbow extension	94/109	OMIM:121050
6497	SKI	HP:0001377	Limited elbow extension	29/199	OMIM:154700
6497	SKI	HP:0001371	Flexion contracture	-	OMIM:143095
6497	SKI	HP:0001371	Flexion contracture	-	OMIM:208050
6497	SKI	HP:0001371	Flexion contracture	-	OMIM:154700
6497	SKI	HP:0001373	Joint dislocation	-	OMIM:143095
6497	SKI	HP:0000055	Abnormal female external genitalia morphology	HP:0040283	ORPHA:1606
6497	SKI	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:1606
6497	SKI	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1606
6497	SKI	HP:0001387	Joint stiffness	HP:0040283	ORPHA:2462
6497	SKI	HP:0001382	Joint hypermobility	1/1	OMIM:130050
6497	SKI	HP:0001382	Joint hypermobility	12/14	OMIM:208050
6497	SKI	HP:0001382	Joint hypermobility	-	OMIM:150250
6497	SKI	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:2462
6497	SKI	HP:0001382	Joint hypermobility	11/53	OMIM:154700
6497	SKI	HP:0001382	Joint hypermobility	-	OMIM:615777
6497	SKI	HP:0001382	Joint hypermobility	31/47	OMIM:182212
6497	SKI	HP:0000047	Hypospadias	HP:0040283	ORPHA:1606
6497	SKI	HP:0000023	Inguinal hernia	11/11	OMIM:130050
6497	SKI	HP:0000023	Inguinal hernia	8/15	OMIM:208050
6497	SKI	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:2462
6497	SKI	HP:0000023	Inguinal hernia	19/34	OMIM:182212
6497	SKI	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:2462
6497	SKI	HP:0001363	Craniosynostosis	18/37	OMIM:182212
6497	SKI	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6497	SKI	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1606
6497	SKI	HP:0000028	Cryptorchidism	1/1	OMIM:130050
6497	SKI	HP:0000028	Cryptorchidism	-	OMIM:150250
6497	SKI	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2462
6497	SKI	HP:0000028	Cryptorchidism	1/13	OMIM:182212
6497	SKI	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6497	SKI	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:1606
6497	SKI	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
6497	SKI	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
6497	SKI	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
6497	SKI	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
6497	SKI	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
6497	SKI	HP:0003994	Dislocated wrist	-	OMIM:150250
6497	SKI	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6497	SKI	HP:0001324	Muscle weakness	40/96	OMIM:131300
6497	SKI	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:143095
6497	SKI	HP:0001344	Absent speech	HP:0040281	ORPHA:1606
6497	SKI	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6497	SKI	HP:0000007	Autosomal recessive inheritance	-	OMIM:143095
6497	SKI	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
6497	SKI	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6497	SKI	HP:0001334	Communicating hydrocephalus	HP:0040282	ORPHA:2462
6497	SKI	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
6497	SKI	HP:0000006	Autosomal dominant inheritance	-	OMIM:150250
6497	SKI	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
6497	SKI	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
6497	SKI	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6497	SKI	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
6497	SKI	HP:0002650	Scoliosis	HP:0040283	ORPHA:1606
6497	SKI	HP:0002650	Scoliosis	16/53	OMIM:154700
6497	SKI	HP:0002650	Scoliosis	11/15	OMIM:121050
6497	SKI	HP:0002650	Scoliosis	9/9	OMIM:143095
6497	SKI	HP:0002650	Scoliosis	12/14	OMIM:131300
6497	SKI	HP:0002650	Scoliosis	3/15	OMIM:208050
6497	SKI	HP:0002650	Scoliosis	12/20	OMIM:150250
6497	SKI	HP:0002650	Scoliosis	HP:0040282	ORPHA:2462
6497	SKI	HP:0002650	Scoliosis	23/37	OMIM:182212
6497	SKI	HP:0002647	Aortic dissection	1/58	OMIM:154700
6497	SKI	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6497	SKI	HP:0002619	Varicose veins	-	OMIM:130050
6497	SKI	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
6497	SKI	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
6497	SKI	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
6497	SKI	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
6497	SKI	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
6497	SKI	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6497	SKI	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6497	SKI	HP:0000189	Narrow palate	-	OMIM:182212
6497	SKI	HP:0000189	Narrow palate	-	OMIM:154700
6497	SKI	HP:0008905	Rhizomelia	-	OMIM:143095
6497	SKI	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6497	SKI	HP:0000193	Bifid uvula	0/14	OMIM:208050
6497	SKI	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
6497	SKI	HP:0000160	Narrow mouth	HP:0040282	ORPHA:1606
6497	SKI	HP:0012151	Hemothorax	3/4	OMIM:130050
6497	SKI	HP:0000175	Cleft palate	3/20	OMIM:150250
6497	SKI	HP:0000175	Cleft palate	2/7	OMIM:615777
6497	SKI	HP:0000139	Uterine prolapse	-	OMIM:130050
6497	SKI	HP:0000135	Hypogonadism	HP:0040283	ORPHA:1606
6497	SKI	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
6497	SKI	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
6497	SKI	HP:0002705	High, narrow palate	HP:0040281	ORPHA:2462
6497	SKI	HP:0007598	Bilateral single transverse palmar creases	-	OMIM:143095
6497	SKI	HP:0002780	Bronchomalacia	-	OMIM:150250
6497	SKI	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
6497	SKI	HP:0002779	Tracheomalacia	-	OMIM:150250
6497	SKI	HP:0002777	Tracheal stenosis	-	OMIM:150250
6497	SKI	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1606
6497	SKI	HP:0000107	Renal cyst	HP:0040283	ORPHA:1606
6497	SKI	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
6497	SKI	HP:0002751	Kyphoscoliosis	-	OMIM:143095
6497	SKI	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
6497	SKI	HP:0002750	Delayed skeletal maturation	-	OMIM:143095
6497	SKI	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:1606
6497	SKI	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:1606
6497	SKI	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:1606
6497	SKI	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:2462
6497	SKI	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
6497	SKI	HP:0002019	Constipation	HP:0040282	ORPHA:1606
6497	SKI	HP:0002036	Hiatus hernia	-	OMIM:208050
6497	SKI	HP:0002015	Dysphagia	HP:0040282	ORPHA:1606
6497	SKI	HP:0002007	Frontal bossing	-	OMIM:121050
6497	SKI	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1606
6497	SKI	HP:0002007	Frontal bossing	-	OMIM:150250
6497	SKI	HP:0002007	Frontal bossing	HP:0040282	ORPHA:2462
6497	SKI	HP:0002007	Frontal bossing	-	OMIM:182212
6497	SKI	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:2462
6497	SKI	HP:0003304	Spondylolysis	-	OMIM:150250
6497	SKI	HP:0003301	Irregular vertebral endplates	-	OMIM:143095
6497	SKI	HP:0003302	Spondylolisthesis	-	OMIM:154700
6497	SKI	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1606
6497	SKI	HP:0011800	Midface retrusion	19/20	OMIM:150250
6497	SKI	HP:0002097	Emphysema	8/9	OMIM:130050
6497	SKI	HP:0002097	Emphysema	HP:0040283	OMIM:154700
6497	SKI	HP:0002092	Pulmonary arterial hypertension	-	OMIM:143095
6497	SKI	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:1606
6497	SKI	HP:0030961	Microspherophakia	2/53	OMIM:154700
6497	SKI	HP:0003388	Easy fatigability	36/76	OMIM:131300
6497	SKI	HP:0010446	Tricuspid stenosis	-	OMIM:143095
6497	SKI	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
6497	SKI	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
6497	SKI	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
6497	SKI	HP:0008127	Bipartite calcaneus	-	OMIM:150250
6497	SKI	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6497	SKI	HP:0010499	Patellar subluxation	12/22	OMIM:121050
6497	SKI	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
6497	SKI	HP:0002140	Ischemic stroke	-	OMIM:208050
6497	SKI	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1606
6497	SKI	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1606
6497	SKI	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:2462
6497	SKI	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
6497	SKI	HP:0002107	Pneumothorax	2/2	OMIM:130050
6497	SKI	HP:0002107	Pneumothorax	6/53	OMIM:154700
6497	SKI	HP:0002104	Apnea	HP:0040283	ORPHA:2462
6497	SKI	HP:0002105	Hemoptysis	6/10	OMIM:130050
6497	SKI	HP:0003417	Coronal cleft vertebrae	-	OMIM:143095
6497	SKI	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:1606
6497	SKI	HP:0002194	Delayed gross motor development	-	OMIM:143095
6497	SKI	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1606
6497	SKI	HP:0002176	Spinal cord compression	-	OMIM:150250
6497	SKI	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
6497	SKI	HP:0100490	Camptodactyly of finger	-	OMIM:143095
6497	SKI	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1606
6497	SKI	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:2462
6497	SKI	HP:0010585	Small epiphyses	9/9	OMIM:143095
6497	SKI	HP:0003593	Infantile onset	9/9	OMIM:143095
6497	SKI	HP:0003593	Infantile onset	5/16	OMIM:208050
6497	SKI	HP:0003577	Congenital onset	5/5	OMIM:121050
6497	SKI	HP:0003577	Congenital onset	6/6	OMIM:143095
6497	SKI	HP:0003577	Congenital onset	12/26	OMIM:208050
6497	SKI	HP:0002242	Abnormal intestine morphology	HP:0040283	ORPHA:1606
6497	SKI	HP:0100718	Uterine rupture	-	OMIM:130050
6497	SKI	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:1606
6497	SKI	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:1606
6497	SKI	HP:0004872	Incisional hernia	-	OMIM:154700
6497	SKI	HP:0100775	Dural ectasia	112/140	OMIM:154700
6497	SKI	HP:0100749	Chest pain	1/2	OMIM:130050
6497	SKI	HP:0002293	Alopecia of scalp	-	OMIM:130050
6497	SKI	HP:0034671	Knee contracture	7/14	OMIM:121050
6497	SKI	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
6497	SKI	HP:0010648	Dermal translucency	3/3	OMIM:130050
6497	SKI	HP:0003510	Severe short stature	7/7	OMIM:615777
6497	SKI	HP:0007099	Chiari type I malformation	-	OMIM:182212
6497	SKI	HP:0025019	Arterial rupture	-	OMIM:130050
6497	SKI	HP:0001065	Striae distensae	11/53	OMIM:154700
6497	SKI	HP:0001030	Fragile skin	-	OMIM:130050
6497	SKI	HP:0001027	Soft, doughy skin	-	OMIM:208050
6497	SKI	HP:0001009	Telangiectasia	HP:0040283	ORPHA:1606
6497	SKI	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1606
6497	SKI	HP:0002315	Headache	-	OMIM:131300
6497	SKI	HP:0004976	Knee dislocation	16/20	OMIM:150250
6497	SKI	HP:0004976	Knee dislocation	6/6	OMIM:143095
6497	SKI	HP:0004976	Knee dislocation	6/7	OMIM:615777
6497	SKI	HP:0100645	Cystocele	-	OMIM:130050
6497	SKI	HP:0001073	Cigarette-paper scars	-	OMIM:130050
6497	SKI	HP:0009803	Short phalanx of finger	-	OMIM:143095
6497	SKI	HP:0009803	Short phalanx of finger	-	OMIM:615777
6497	SKI	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
6497	SKI	HP:0001083	Ectopia lentis	119/251	OMIM:154700
6497	SKI	HP:0008499	High hypermetropia	HP:0040282	ORPHA:1606
6497	SKI	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:143095
6497	SKI	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
6497	SKI	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
6497	SKI	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
6497	SKI	HP:0010743	Short metatarsal	-	OMIM:150250
6497	SKI	HP:0009763	Limb pain	63/92	OMIM:131300
6497	SKI	HP:0008434	Hypoplastic cervical vertebrae	-	OMIM:150250
6497	SKI	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
6497	SKI	HP:0003623	Neonatal onset	3/16	OMIM:208050
6497	SKI	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
6497	SKI	HP:0002308	Chiari malformation	HP:0040283	ORPHA:2462
6497	SKI	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
6497	SKI	HP:0003621	Juvenile onset	-	OMIM:131300
6497	SKI	HP:0003621	Juvenile onset	2/16	OMIM:208050
6497	SKI	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
6497	SKI	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
6497	SKI	HP:0004942	Aortic aneurysm	-	OMIM:150250
6497	SKI	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
6497	SKI	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6497	SKI	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1606
6497	SKI	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:1606
6497	SKI	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6497	SKI	HP:0004232	Accessory carpal bones	-	OMIM:150250
6497	SKI	HP:0000639	Nystagmus	HP:0040283	ORPHA:1606
6497	SKI	HP:6001056	Out-toeing	-	OMIM:131300
6497	SKI	HP:0000651	Diplopia	-	OMIM:131300
6497	SKI	HP:0001977	Abnormal thrombosis	-	OMIM:208050
6497	SKI	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1606
6497	SKI	HP:0001956	Truncal obesity	2/7	OMIM:615777
6497	SKI	HP:0001903	Anemia	1/1	OMIM:130050
6497	SKI	HP:0001903	Anemia	HP:0040283	OMIM:131300
6497	SKI	HP:0010049	Short metacarpal	-	OMIM:143095
6497	SKI	HP:0010049	Short metacarpal	-	OMIM:615777
6497	SKI	HP:0010049	Short metacarpal	-	OMIM:150250
6497	SKI	HP:0000684	Delayed eruption of teeth	-	OMIM:143095
6497	SKI	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
6497	SKI	HP:0000678	Dental crowding	8/53	OMIM:154700
6497	SKI	HP:0000678	Dental crowding	-	OMIM:615777
6497	SKI	HP:0000691	Microdontia	-	OMIM:143095
6497	SKI	HP:0000689	Dental malocclusion	-	OMIM:182212
6497	SKI	HP:0000687	Widely spaced teeth	-	OMIM:143095
6497	SKI	HP:0000670	Carious teeth	-	OMIM:131300
6497	SKI	HP:0011304	Broad thumb	2/7	OMIM:615777
6497	SKI	HP:0000668	Hypodontia	-	OMIM:615777
6497	SKI	HP:0000668	Hypodontia	-	OMIM:150250
6497	SKI	HP:0000664	Synophrys	-	OMIM:615777
6497	SKI	HP:0004322	Short stature	-	OMIM:130050
6497	SKI	HP:0004322	Short stature	HP:0040283	ORPHA:1606
6497	SKI	HP:0004322	Short stature	15/15	OMIM:143095
6497	SKI	HP:0004322	Short stature	14/20	OMIM:150250
6497	SKI	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
6497	SKI	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1606
6497	SKI	HP:0003071	Flattened epiphysis	-	OMIM:143095
6497	SKI	HP:0003088	Premature osteoarthritis	-	OMIM:154700
6497	SKI	HP:0003083	Dislocated radial head	5/37	OMIM:182212
6497	SKI	HP:0003083	Dislocated radial head	6/6	OMIM:143095
6497	SKI	HP:0003066	Limited knee extension	38/45	OMIM:121050
6497	SKI	HP:0004396	Poor appetite	-	OMIM:131300
6497	SKI	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6497	SKI	HP:0003031	Ulnar bowing	-	OMIM:143095
6497	SKI	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6497	SKI	HP:0004378	Abnormality of the anus	HP:0040283	ORPHA:1606
6497	SKI	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:1606
6497	SKI	HP:0003042	Elbow dislocation	1/12	OMIM:121050
6497	SKI	HP:0003042	Elbow dislocation	-	OMIM:143095
6497	SKI	HP:0003042	Elbow dislocation	13/20	OMIM:150250
6497	SKI	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:2462
6497	SKI	HP:0003040	Arthropathy	-	OMIM:143095
6497	SKI	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
6497	SKI	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6497	SKI	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:1606
6497	SKI	HP:0003026	Short long bone	7/7	OMIM:615777
6497	SKI	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6497	SKI	HP:0003022	Hypoplasia of the ulna	-	OMIM:143095
6497	SKI	HP:0005684	Distal arthrogryposis	-	OMIM:121050
6497	SKI	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
6497	SKI	HP:0012733	Macule	HP:0040283	ORPHA:1606
6497	SKI	HP:0000767	Pectus excavatum	2/14	OMIM:121050
6497	SKI	HP:0000767	Pectus excavatum	1/4	OMIM:130050
6497	SKI	HP:0000767	Pectus excavatum	3/15	OMIM:208050
6497	SKI	HP:0000767	Pectus excavatum	-	OMIM:150250
6497	SKI	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:2462
6497	SKI	HP:0000767	Pectus excavatum	44/146	OMIM:154700
6497	SKI	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6497	SKI	HP:0000767	Pectus excavatum	-	OMIM:182212
6497	SKI	HP:0000768	Pectus carinatum	4/14	OMIM:121050
6497	SKI	HP:0000768	Pectus carinatum	2/15	OMIM:208050
6497	SKI	HP:0000768	Pectus carinatum	-	OMIM:150250
6497	SKI	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:2462
6497	SKI	HP:0000768	Pectus carinatum	58/146	OMIM:154700
6497	SKI	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6497	SKI	HP:0000768	Pectus carinatum	-	OMIM:182212
6497	SKI	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6497	SKI	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:1606
6497	SKI	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:1606
6497	SKI	HP:0000750	Delayed speech and language development	-	OMIM:615777
6497	SKI	HP:0000717	Autism	HP:0040282	ORPHA:1606
6497	SKI	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1606
6497	SKI	HP:0000704	Periodontitis	-	OMIM:130050
6497	SKI	HP:0009179	Deviation of the 5th finger	-	OMIM:143095
6497	SKI	HP:0011463	Childhood onset	1/16	OMIM:208050
6497	SKI	HP:0011462	Young adult onset	3/16	OMIM:208050
6497	SKI	HP:0011461	Fetal onset	7/7	OMIM:615777
6497	SKI	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
6497	SKI	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
6497	SKI	HP:0000774	Narrow chest	HP:0040283	ORPHA:2462
6497	SKI	HP:0000774	Narrow chest	2/7	OMIM:615777
6497	SKI	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
6497	SKI	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
6497	SKI	HP:0030799	Scaphocephaly	-	OMIM:121050
6497	SKI	HP:0003198	Myopathy	HP:0040283	ORPHA:1606
6497	SKI	HP:0003199	Decreased muscle mass	-	OMIM:154700
6497	SKI	HP:0000914	Shield chest	-	OMIM:143095
6497	SKI	HP:0000926	Platyspondyly	1/7	OMIM:615777
6497	SKI	HP:0000921	Missing ribs	HP:0040283	ORPHA:2462
6497	SKI	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
6497	SKI	HP:0003184	Decreased hip abduction	-	OMIM:143095
6497	SKI	HP:0003180	Flat acetabular roof	-	OMIM:615777
6497	SKI	HP:0000902	Rib fusion	HP:0040283	ORPHA:1606
6497	SKI	HP:0004482	Relative macrocephaly	-	OMIM:615777
6497	SKI	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6497	SKI	HP:0000878	11 pairs of ribs	HP:0040283	ORPHA:1606
6497	SKI	HP:0000892	Bifid ribs	HP:0040283	ORPHA:1606
6497	SKI	HP:0000883	Thin ribs	-	OMIM:182212
6497	SKI	HP:0003093	Limited hip extension	9/9	OMIM:143095
6497	SKI	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:143095
6497	SKI	HP:0000822	Hypertension	-	OMIM:208050
6497	SKI	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1606
6497	SKI	HP:0000823	Delayed puberty	-	OMIM:131300
6497	SKI	HP:0000895	Lateral clavicle hook	-	OMIM:182212
6497	SKI	HP:0000894	Short clavicles	-	OMIM:615777
6497	SKI	HP:0004568	Beaking of vertebral bodies	-	OMIM:150250
6497	SKI	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
6497	SKI	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6497	SKI	HP:0034391	Elbow contracture	10/14	OMIM:121050
6497	SKI	HP:0003298	Spina bifida occulta	-	OMIM:150250
6497	SKI	HP:0003273	Hip contracture	32/121	OMIM:121050
6497	SKI	HP:0045075	Sparse eyebrow	-	OMIM:143095
6497	SKI	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
6497	SKI	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040283	ORPHA:2462
6497	SKI	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
6497	SKI	HP:0000978	Bruising susceptibility	-	OMIM:208050
6497	SKI	HP:0000977	Soft skin	7/15	OMIM:208050
6497	SKI	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
6497	SKI	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
6497	SKI	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
6497	SKI	HP:0000974	Hyperextensible skin	HP:0040283	ORPHA:2462
6497	SKI	HP:0000973	Cutis laxa	5/14	OMIM:208050
6497	SKI	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6497	SKI	HP:0000963	Thin skin	4/13	OMIM:208050
6497	SKI	HP:0000938	Osteopenia	-	OMIM:121050
6497	SKI	HP:0000938	Osteopenia	HP:0040283	ORPHA:2462
6497	SKI	HP:0000938	Osteopenia	-	OMIM:182212
6497	SKI	HP:0000944	Abnormal metaphysis morphology	HP:0040283	ORPHA:2462
6497	SKI	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
6497	SKI	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:1606
6497	SKI	HP:6000970	Diminished sulfotransferase activity in cultured fibroblasts	2/2	OMIM:143095
6497	SKI	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
6497	SKI	HP:0000286	Epicanthus	HP:0040282	ORPHA:1606
6497	SKI	HP:0000286	Epicanthus	1/7	OMIM:615777
6497	SKI	HP:0025586	Hypertropia	8/573	OMIM:154700
6497	SKI	HP:0000280	Coarse facial features	2/7	OMIM:615777
6497	SKI	HP:0000278	Retrognathia	HP:0040281	ORPHA:2462
6497	SKI	HP:0000278	Retrognathia	-	OMIM:154700
6497	SKI	HP:0000260	Wide anterior fontanel	-	OMIM:182212
6497	SKI	HP:0000275	Narrow face	-	OMIM:154700
6497	SKI	HP:0000276	Long face	14/14	OMIM:208050
6497	SKI	HP:0000276	Long face	-	OMIM:154700
6497	SKI	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:1606
6497	SKI	HP:0000272	Malar flattening	9/14	OMIM:208050
6497	SKI	HP:0000272	Malar flattening	-	OMIM:150250
6497	SKI	HP:0000272	Malar flattening	31/53	OMIM:154700
6497	SKI	HP:0000268	Dolichocephaly	-	OMIM:121050
6497	SKI	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:2462
6497	SKI	HP:0000268	Dolichocephaly	36/53	OMIM:154700
6497	SKI	HP:0000268	Dolichocephaly	28/37	OMIM:182212
6497	SKI	HP:0005136	Mitral annular calcification	-	OMIM:154700
6497	SKI	HP:0006471	Fixed elbow flexion	-	OMIM:143095
6497	SKI	HP:0006462	Generalized bone demineralization	-	OMIM:143095
6497	SKI	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:1606
6497	SKI	HP:0002816	Genu recurvatum	-	OMIM:182212
6497	SKI	HP:0002816	Genu recurvatum	-	OMIM:154700
6497	SKI	HP:0002816	Genu recurvatum	3/6	OMIM:143095
6497	SKI	HP:0002829	Arthralgia	-	OMIM:143095
6497	SKI	HP:0002827	Hip dislocation	16/20	OMIM:150250
6497	SKI	HP:0002827	Hip dislocation	3/7	OMIM:615777
6497	SKI	HP:0002808	Kyphosis	-	OMIM:143095
6497	SKI	HP:0002808	Kyphosis	HP:0040283	ORPHA:1606
6497	SKI	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
6497	SKI	HP:0000244	Brachyturricephaly	-	OMIM:182212
6497	SKI	HP:0000238	Hydrocephalus	13/37	OMIM:182212
6497	SKI	HP:0000252	Microcephaly	HP:0040283	ORPHA:2462
6497	SKI	HP:0000252	Microcephaly	HP:0040282	ORPHA:1606
6497	SKI	HP:0000252	Microcephaly	-	OMIM:615777
6497	SKI	HP:0000252	Microcephaly	6/37	OMIM:182212
6497	SKI	HP:0000248	Brachycephaly	-	OMIM:121050
6497	SKI	HP:0000248	Brachycephaly	HP:0040282	ORPHA:1606
6497	SKI	HP:0001552	Barrel-shaped chest	-	OMIM:143095
6497	SKI	HP:0000218	High palate	34/53	OMIM:154700
6497	SKI	HP:0000218	High palate	30/102	OMIM:121050
6497	SKI	HP:0000218	High palate	-	OMIM:143095
6497	SKI	HP:0000218	High palate	5/13	OMIM:208050
6497	SKI	HP:0000218	High palate	30/37	OMIM:182212
6497	SKI	HP:0000233	Thin vermilion border	-	OMIM:130050
6497	SKI	HP:0030009	Cervical insufficiency	-	OMIM:130050
6497	SKI	HP:0002857	Genu valgum	-	OMIM:131300
6497	SKI	HP:0002857	Genu valgum	-	OMIM:143095
6497	SKI	HP:0002857	Genu valgum	HP:0040283	ORPHA:2462
6497	SKI	HP:0002857	Genu valgum	4/37	OMIM:182212
6497	SKI	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
6497	SKI	HP:0001537	Umbilical hernia	-	OMIM:208050
6497	SKI	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:2462
6497	SKI	HP:0001537	Umbilical hernia	13/37	OMIM:182212
6497	SKI	HP:0001533	Slender build	-	OMIM:131300
6497	SKI	HP:0000204	Cleft upper lip	-	OMIM:150250
6497	SKI	HP:0031364	Ecchymosis	-	OMIM:130050
6497	SKI	HP:0001508	Failure to thrive	HP:0040281	ORPHA:1606
6497	SKI	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2462
6497	SKI	HP:0001519	Disproportionate tall stature	-	OMIM:121050
6497	SKI	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
6497	SKI	HP:0001511	Intrauterine growth retardation	-	OMIM:150250
6497	SKI	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6497	SKI	HP:0001513	Obesity	HP:0040283	ORPHA:1606
6497	SKI	HP:0007807	Optic nerve compression	-	OMIM:131300
6497	SKI	HP:0007800	Increased axial length of the globe	-	OMIM:154700
6497	SKI	HP:0012385	Camptodactyly	86/110	OMIM:121050
6497	SKI	HP:0012385	Camptodactyly	19/53	OMIM:154700
6497	SKI	HP:0012385	Camptodactyly	24/37	OMIM:182212
6497	SKI	HP:0000387	Absent earlobe	-	OMIM:130050
6497	SKI	HP:0012368	Flat face	7/7	OMIM:615777
6497	SKI	HP:0012368	Flat face	-	OMIM:150250
6497	SKI	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
6497	SKI	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
6497	SKI	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
6497	SKI	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
6497	SKI	HP:0002938	Lumbar hyperlordosis	-	OMIM:143095
6497	SKI	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6497	SKI	HP:0002948	Vertebral fusion	8/16	OMIM:150250
6497	SKI	HP:0002947	Cervical kyphosis	-	OMIM:150250
6497	SKI	HP:0002945	Intervertebral space narrowing	9/9	OMIM:143095
6497	SKI	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
6497	SKI	HP:0005180	Tricuspid regurgitation	-	OMIM:143095
6497	SKI	HP:0006480	Premature loss of teeth	-	OMIM:130050
6497	SKI	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
6497	SKI	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:2462
6497	SKI	HP:0000365	Hearing impairment	-	OMIM:143095
6497	SKI	HP:0000365	Hearing impairment	10/67	OMIM:131300
6497	SKI	HP:0000365	Hearing impairment	4/19	OMIM:150250
6497	SKI	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1606
6497	SKI	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:2462
6497	SKI	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
6497	SKI	HP:0000369	Low-set ears	HP:0040281	ORPHA:2462
6497	SKI	HP:0000369	Low-set ears	32/37	OMIM:182212
6497	SKI	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:1606
6497	SKI	HP:0000343	Long philtrum	HP:0040282	OMIM:143095
6497	SKI	HP:0000343	Long philtrum	HP:0040281	ORPHA:1606
6497	SKI	HP:0000343	Long philtrum	-	OMIM:208050
6497	SKI	HP:0000343	Long philtrum	1/7	OMIM:615777
6497	SKI	HP:0011001	Increased bone mineral density	-	OMIM:131300
6497	SKI	HP:0000337	Broad forehead	HP:0040282	OMIM:143095
6497	SKI	HP:0002999	Patellar dislocation	2/20	OMIM:121050
6497	SKI	HP:0000348	High forehead	HP:0040282	ORPHA:2462
6497	SKI	HP:0000347	Micrognathia	-	OMIM:154700
6497	SKI	HP:0000347	Micrognathia	26/94	OMIM:121050
6497	SKI	HP:0000347	Micrognathia	5/14	OMIM:208050
6497	SKI	HP:0000347	Micrognathia	HP:0040281	ORPHA:2462
6497	SKI	HP:0000347	Micrognathia	33/37	OMIM:182212
6497	SKI	HP:0002982	Tibial bowing	-	OMIM:143095
6497	SKI	HP:0001650	Aortic valve stenosis	-	OMIM:143095
6497	SKI	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
6497	SKI	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
6497	SKI	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
6497	SKI	HP:0000316	Hypertelorism	-	OMIM:143095
6497	SKI	HP:0000316	Hypertelorism	6/16	OMIM:208050
6497	SKI	HP:0000316	Hypertelorism	-	OMIM:150250
6497	SKI	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2462
6497	SKI	HP:0000316	Hypertelorism	28/37	OMIM:182212
6497	SKI	HP:0001646	Abnormal aortic valve morphology	HP:0040282	ORPHA:2462
6497	SKI	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
6497	SKI	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1606
6497	SKI	HP:0000311	Round face	2/7	OMIM:615777
6497	SKI	HP:0001642	Pulmonic stenosis	-	OMIM:143095
6497	SKI	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:1606
6497	SKI	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
6497	SKI	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:2462
6497	SKI	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
6497	SKI	HP:0001659	Aortic regurgitation	-	OMIM:143095
6497	SKI	HP:0001659	Aortic regurgitation	-	OMIM:208050
6497	SKI	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:1606
6497	SKI	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
6497	SKI	HP:0001653	Mitral regurgitation	-	OMIM:121050
6497	SKI	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
6497	SKI	HP:0001653	Mitral regurgitation	-	OMIM:143095
6497	SKI	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:2462
6497	SKI	HP:0001629	Ventricular septal defect	-	OMIM:121050
6497	SKI	HP:0001629	Ventricular septal defect	-	OMIM:143095
6497	SKI	HP:0001629	Ventricular septal defect	-	OMIM:150250
6497	SKI	HP:0001623	Breech presentation	3/6	OMIM:143095
6497	SKI	HP:0002970	Genu varum	-	OMIM:615777
6497	SKI	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1606
6497	SKI	HP:0001635	Congestive heart failure	-	OMIM:154700
6497	SKI	HP:0000307	Pointed chin	HP:0040281	ORPHA:1606
6497	SKI	HP:0002967	Cubitus valgus	-	OMIM:143095
6497	SKI	HP:0001631	Atrial septal defect	-	OMIM:121050
6497	SKI	HP:0001631	Atrial septal defect	-	OMIM:150250
6497	SKI	HP:0000303	Mandibular prognathia	-	OMIM:131300
6497	SKI	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
6497	SKI	HP:0001634	Mitral valve prolapse	-	OMIM:130050
6497	SKI	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
6497	SKI	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
6497	SKI	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:2462
6497	SKI	HP:0007957	Corneal opacity	-	OMIM:150250
6497	SKI	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
6497	SKI	HP:0006610	Wide intermamillary distance	-	OMIM:143095
6497	SKI	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
6497	SKI	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
6497	SKI	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
6497	SKI	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:1606
6497	SKI	HP:0001734	Annular pancreas	HP:0040283	ORPHA:1606
6497	SKI	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:1606
6497	SKI	HP:0000405	Conductive hearing impairment	-	OMIM:150250
6497	SKI	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:2462
6497	SKI	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
6497	SKI	HP:0000400	Macrotia	7/15	OMIM:208050
6497	SKI	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
6497	SKI	HP:0001718	Mitral stenosis	-	OMIM:143095
6497	SKI	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
6497	SKI	HP:0001714	Ventricular hypertrophy	-	OMIM:143095
6497	SKI	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1606
6497	SKI	HP:0005280	Depressed nasal bridge	-	OMIM:150250
6497	SKI	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6497	SKI	HP:0000483	Astigmatism	3/53	OMIM:154700
6497	SKI	HP:0000483	Astigmatism	5/15	OMIM:208050
6497	SKI	HP:0000486	Strabismus	HP:0040282	ORPHA:1606
6497	SKI	HP:0000486	Strabismus	110/573	OMIM:154700
6497	SKI	HP:0000486	Strabismus	HP:0040282	ORPHA:2462
6497	SKI	HP:0000486	Strabismus	17/37	OMIM:182212
6497	SKI	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
6497	SKI	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:2462
6497	SKI	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
6497	SKI	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
6497	SKI	HP:0000490	Deeply set eye	HP:0040281	ORPHA:1606
6497	SKI	HP:0000490	Deeply set eye	25/63	OMIM:154700
6497	SKI	HP:0000464	Abnormality of the neck	HP:0040283	ORPHA:1606
6497	SKI	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2462
6497	SKI	HP:0000463	Anteverted nares	9/37	OMIM:182212
6497	SKI	HP:0001786	Narrow foot	33/53	OMIM:154700
6497	SKI	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:1606
6497	SKI	HP:0000470	Short neck	-	OMIM:121050
6497	SKI	HP:0000470	Short neck	-	OMIM:143095
6497	SKI	HP:0000470	Short neck	1/7	OMIM:615777
6497	SKI	HP:0001799	Short nail	-	OMIM:150250
6497	SKI	HP:0001773	Short foot	HP:0040281	ORPHA:1606
6497	SKI	HP:0001772	Talipes equinovalgus	-	OMIM:150250
6497	SKI	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6497	SKI	HP:0001763	Pes planus	-	OMIM:143095
6497	SKI	HP:0001763	Pes planus	HP:0040281	ORPHA:2462
6497	SKI	HP:0001763	Pes planus	27/53	OMIM:154700
6497	SKI	HP:0001763	Pes planus	1/7	OMIM:615777
6497	SKI	HP:0001763	Pes planus	-	OMIM:182212
6497	SKI	HP:0001765	Hammertoe	-	OMIM:154700
6497	SKI	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
6497	SKI	HP:0000418	Narrow nasal ridge	-	OMIM:130050
6497	SKI	HP:0000411	Protruding ear	HP:0040283	ORPHA:2462
6497	SKI	HP:0001743	Abnormality of the spleen	HP:0040283	ORPHA:1606
6497	SKI	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
6497	SKI	HP:0001762	Talipes equinovarus	6/6	OMIM:143095
6497	SKI	HP:0001762	Talipes equinovarus	-	OMIM:130050
6497	SKI	HP:0001762	Talipes equinovarus	15/20	OMIM:150250
6497	SKI	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
6497	SKI	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1606
6497	SKI	HP:0001761	Pes cavus	49/146	OMIM:154700
6497	SKI	HP:0000518	Cataract	HP:0040283	ORPHA:1606
6497	SKI	HP:0000518	Cataract	118/199	OMIM:154700
6497	SKI	HP:0001840	Metatarsus adductus	-	OMIM:121050
6497	SKI	HP:0001840	Metatarsus adductus	-	OMIM:182212
6497	SKI	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
6497	SKI	HP:0001840	Metatarsus adductus	-	OMIM:615777
6497	SKI	HP:0001842	Foot acroosteolysis	-	OMIM:130050
6497	SKI	HP:0000520	Proptosis	2/4	OMIM:131300
6497	SKI	HP:0000520	Proptosis	HP:0040281	ORPHA:2462
6497	SKI	HP:0000520	Proptosis	7/7	OMIM:615777
6497	SKI	HP:0000520	Proptosis	29/37	OMIM:182212
6497	SKI	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:1606
6497	SKI	HP:0000506	Telecanthus	HP:0040281	ORPHA:2462
6497	SKI	HP:0000506	Telecanthus	-	OMIM:182212
6497	SKI	HP:0000508	Ptosis	HP:0040282	ORPHA:2462
6497	SKI	HP:0000508	Ptosis	16/37	OMIM:182212
6497	SKI	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
6497	SKI	HP:0000505	Visual impairment	HP:0040283	ORPHA:1606
6497	SKI	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1606
6497	SKI	HP:0000501	Glaucoma	29/625	OMIM:154700
6497	SKI	HP:0000581	Blepharophimosis	-	OMIM:208050
6497	SKI	HP:0000577	Exotropia	72/626	OMIM:154700
6497	SKI	HP:0000592	Blue sclerae	2/7	OMIM:615777
6497	SKI	HP:0011228	Horizontal eyebrow	HP:0040281	ORPHA:1606
6497	SKI	HP:0000586	Shallow orbits	13/37	OMIM:182212
6497	SKI	HP:0000586	Shallow orbits	-	OMIM:150250
6497	SKI	HP:0000563	Keratoconus	-	OMIM:130050
6497	SKI	HP:0000563	Keratoconus	3/14	OMIM:208050
6497	SKI	HP:0011220	Prominent forehead	-	OMIM:150250
6497	SKI	HP:0011220	Prominent forehead	17/37	OMIM:182212
6497	SKI	HP:0000565	Esotropia	12/573	OMIM:154700
6497	SKI	HP:0000541	Retinal detachment	-	OMIM:154700
6497	SKI	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6497	SKI	HP:0000534	Abnormal eyebrow morphology	HP:0040282	ORPHA:1606
6497	SKI	HP:0001883	Talipes	13/53	OMIM:154700
6497	SKI	HP:0012514	Lower limb pain	4/4	OMIM:131300
6497	SKI	HP:0000545	Myopia	-	OMIM:121050
6497	SKI	HP:0000545	Myopia	6/15	OMIM:208050
6497	SKI	HP:0000545	Myopia	HP:0040283	ORPHA:2462
6497	SKI	HP:0000545	Myopia	93/251	OMIM:154700
6497	SKI	HP:0000545	Myopia	9/37	OMIM:182212
6499	SKIC2	HP:0025156	Dependency on intravenous nutrition	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0009886	Trichorrhexis nodosa	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0009886	Trichorrhexis nodosa	6/6	OMIM:614602
6499	SKIC2	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0002583	Colitis	4/4	OMIM:614602
6499	SKIC2	HP:0002583	Colitis	HP:0040283	ORPHA:84064
6499	SKIC2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0000089	Renal hypoplasia	HP:0040284	ORPHA:84064
6499	SKIC2	HP:0001392	Abnormality of the liver	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0001394	Cirrhosis	2/3	OMIM:614602
6499	SKIC2	HP:0001394	Cirrhosis	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0000023	Inguinal hernia	HP:0040284	ORPHA:84064
6499	SKIC2	HP:0007513	Generalized hypopigmentation	HP:0040284	ORPHA:84064
6499	SKIC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614602
6499	SKIC2	HP:0000113	Polycystic kidney dysplasia	HP:0040284	ORPHA:84064
6499	SKIC2	HP:0002719	Recurrent infections	HP:0040283	ORPHA:84064
6499	SKIC2	HP:0002721	Immunodeficiency	3/6	OMIM:614602
6499	SKIC2	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:84064
6499	SKIC2	HP:0040303	Decreased circulating iron concentration	1/1	OMIM:614602
6499	SKIC2	HP:0002028	Chronic diarrhea	1/1	OMIM:614602
6499	SKIC2	HP:0002014	Diarrhea	6/6	OMIM:614602
6499	SKIC2	HP:0002041	Intractable diarrhea	HP:0040281	ORPHA:84064
6499	SKIC2	HP:0011877	Increased mean platelet volume	HP:0040283	ORPHA:84064
6499	SKIC2	HP:0003593	Infantile onset	-	OMIM:614602
6499	SKIC2	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0002240	Hepatomegaly	1/1	OMIM:614602
6499	SKIC2	HP:0002224	Woolly hair	1/1	OMIM:614602
6499	SKIC2	HP:0002224	Woolly hair	HP:0040281	ORPHA:84064
6499	SKIC2	HP:0200123	Chronic hepatitis	1/1	OMIM:614602
6499	SKIC2	HP:0002299	Brittle hair	-	OMIM:614602
6499	SKIC2	HP:0002299	Brittle hair	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0025085	Bloody diarrhea	1/1	OMIM:614602
6499	SKIC2	HP:0025085	Bloody diarrhea	HP:0040284	ORPHA:84064
6499	SKIC2	HP:0003623	Neonatal onset	-	OMIM:614602
6499	SKIC2	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040284	ORPHA:84064
6499	SKIC2	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:84064
6499	SKIC2	HP:0004322	Short stature	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0011473	Villous atrophy	3/5	OMIM:614602
6499	SKIC2	HP:0011473	Villous atrophy	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0011461	Fetal onset	1/1	OMIM:614602
6499	SKIC2	HP:0000778	Hypoplasia of the thymus	HP:0040284	ORPHA:84064
6499	SKIC2	HP:0003139	Panhypogammaglobulinemia	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:84064
6499	SKIC2	HP:0000958	Dry skin	HP:0040283	ORPHA:84064
6499	SKIC2	HP:0000957	Cafe-au-lait spot	HP:0040283	ORPHA:84064
6499	SKIC2	HP:0008070	Sparse hair	-	OMIM:614602
6499	SKIC2	HP:0030056	Uncombable hair	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0030056	Uncombable hair	-	OMIM:614602
6499	SKIC2	HP:0002884	Hepatoblastoma	HP:0040284	ORPHA:84064
6499	SKIC2	HP:0001508	Failure to thrive	-	OMIM:614602
6499	SKIC2	HP:0001518	Small for gestational age	11/11	OMIM:614602
6499	SKIC2	HP:0001518	Small for gestational age	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0001511	Intrauterine growth retardation	4/6	OMIM:614602
6499	SKIC2	HP:0011031	Abnormality of iron homeostasis	HP:0040283	ORPHA:84064
6499	SKIC2	HP:0005263	Gastritis	HP:0040283	ORPHA:84064
6499	SKIC2	HP:0000337	Broad forehead	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0001647	Bicuspid aortic valve	HP:0040284	ORPHA:84064
6499	SKIC2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0000316	Hypertelorism	-	OMIM:614602
6499	SKIC2	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:84064
6499	SKIC2	HP:0001659	Aortic regurgitation	HP:0040284	ORPHA:84064
6499	SKIC2	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:84064
6499	SKIC2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:84064
6499	SKIC2	HP:0001622	Premature birth	3/6	OMIM:614602
6499	SKIC2	HP:0001636	Tetralogy of Fallot	HP:0040284	ORPHA:84064
6499	SKIC2	HP:0001631	Atrial septal defect	HP:0040284	ORPHA:84064
6499	SKIC2	HP:0005280	Depressed nasal bridge	-	OMIM:614602
6499	SKIC2	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0001744	Splenomegaly	HP:0040284	ORPHA:84064
6499	SKIC2	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0000431	Wide nasal bridge	1/1	OMIM:614602
6499	SKIC2	HP:0000501	Glaucoma	HP:0040284	ORPHA:84064
6499	SKIC2	HP:0001894	Thrombocytosis	HP:0040283	ORPHA:84064
6499	SKIC2	HP:0011220	Prominent forehead	-	OMIM:614602
6499	SKIC2	HP:0011220	Prominent forehead	HP:0040282	ORPHA:84064
6499	SKIC2	HP:0001888	Decreased total lymphocyte count	HP:0040283	ORPHA:84064
6505	SLC1A1	HP:0001249	Intellectual disability	-	OMIM:222730
6505	SLC1A1	HP:0032401	Aspartic aciduria	2/2	OMIM:222730
6505	SLC1A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:222730
6505	SLC1A1	HP:0003355	Aminoaciduria	-	OMIM:222730
6505	SLC1A1	HP:0000787	Nephrolithiasis	1/2	OMIM:222730
6505	SLC1A1	HP:0003162	Fasting hypoglycemia	-	OMIM:222730
6506	SLC1A2	HP:0010864	Intellectual disability, severe	1/3	OMIM:617105
6506	SLC1A2	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
6506	SLC1A2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
6506	SLC1A2	HP:0001290	Generalized hypotonia	1/3	OMIM:617105
6506	SLC1A2	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0001254	Lethargy	-	OMIM:617105
6506	SLC1A2	HP:0001250	Seizure	HP:0040282	ORPHA:442835
6506	SLC1A2	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
6506	SLC1A2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
6506	SLC1A2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
6506	SLC1A2	HP:0001263	Global developmental delay	3/3	OMIM:617105
6506	SLC1A2	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0001257	Spasticity	HP:0040283	OMIM:617105
6506	SLC1A2	HP:0002540	Inability to walk	-	OMIM:617105
6506	SLC1A2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0002521	Hypsarrhythmia	1/3	OMIM:617105
6506	SLC1A2	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
6506	SLC1A2	HP:0001371	Flexion contracture	-	OMIM:617105
6506	SLC1A2	HP:0001344	Absent speech	-	OMIM:617105
6506	SLC1A2	HP:0001337	Tremor	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617105
6506	SLC1A2	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0008936	Axial hypotonia	1/3	OMIM:617105
6506	SLC1A2	HP:0000121	Nephrocalcinosis	1/3	OMIM:617105
6506	SLC1A2	HP:0002751	Kyphoscoliosis	-	OMIM:617105
6506	SLC1A2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0002069	Bilateral tonic-clonic seizure	1/3	OMIM:617105
6506	SLC1A2	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0002079	Hypoplasia of the corpus callosum	2/3	OMIM:617105
6506	SLC1A2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0002059	Cerebral atrophy	2/3	OMIM:617105
6506	SLC1A2	HP:0003487	Babinski sign	1/3	OMIM:617105
6506	SLC1A2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
6506	SLC1A2	HP:0002188	Delayed CNS myelination	2/3	OMIM:617105
6506	SLC1A2	HP:0002187	Intellectual disability, profound	2/3	OMIM:617105
6506	SLC1A2	HP:0003593	Infantile onset	1/3	OMIM:617105
6506	SLC1A2	HP:0002273	Tetraparesis	1/3	OMIM:617105
6506	SLC1A2	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0200134	Epileptic encephalopathy	3/3	OMIM:617105
6506	SLC1A2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0011968	Feeding difficulties	-	OMIM:617105
6506	SLC1A2	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
6506	SLC1A2	HP:0002376	Developmental regression	HP:0040283	OMIM:617105
6506	SLC1A2	HP:0002353	EEG abnormality	3/3	OMIM:617105
6506	SLC1A2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
6506	SLC1A2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0010818	Generalized tonic seizure	2/3	OMIM:617105
6506	SLC1A2	HP:0003623	Neonatal onset	2/3	OMIM:617105
6506	SLC1A2	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
6506	SLC1A2	HP:0000684	Delayed eruption of teeth	1/3	OMIM:617105
6506	SLC1A2	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0004322	Short stature	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0000737	Irritability	-	OMIM:617105
6506	SLC1A2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
6506	SLC1A2	HP:0000717	Autism	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
6506	SLC1A2	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0000252	Microcephaly	1/3	OMIM:617105
6506	SLC1A2	HP:0032667	Myoclonic status epilepticus	2/3	OMIM:617105
6506	SLC1A2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
6506	SLC1A2	HP:0011097	Epileptic spasm	1/3	OMIM:617105
6506	SLC1A2	HP:0000348	High forehead	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0032794	Myoclonic seizure	3/3	OMIM:617105
6506	SLC1A2	HP:0031475	Status epilepticus without prominent motor symptoms	1/3	OMIM:617105
6506	SLC1A2	HP:0011167	Focal tonic seizure	2/3	OMIM:617105
6506	SLC1A2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
6506	SLC1A2	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
6506	SLC1A2	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
6506	SLC1A2	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
6507	SLC1A3	HP:0002483	Bulbar signs	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:209967
6507	SLC1A3	HP:0001272	Cerebellar atrophy	1/1	OMIM:612656
6507	SLC1A3	HP:0001270	Motor delay	-	OMIM:612656
6507	SLC1A3	HP:0001269	Hemiparesis	1/1	OMIM:612656
6507	SLC1A3	HP:0001284	Areflexia	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0001250	Seizure	HP:0040283	ORPHA:209967
6507	SLC1A3	HP:0001250	Seizure	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0001250	Seizure	-	OMIM:612656
6507	SLC1A3	HP:0001252	Hypotonia	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0001251	Ataxia	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0001251	Ataxia	HP:0040281	ORPHA:209967
6507	SLC1A3	HP:0002579	Gastrointestinal dysmotility	HP:0040281	ORPHA:2131
6507	SLC1A3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0001260	Dysarthria	-	OMIM:612656
6507	SLC1A3	HP:0001260	Dysarthria	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0410263	Brain imaging abnormality	-	ORPHA:2131
6507	SLC1A3	HP:0001350	Slurred speech	HP:0040283	ORPHA:209967
6507	SLC1A3	HP:0001350	Slurred speech	1/1	OMIM:612656
6507	SLC1A3	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0001332	Dystonia	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0001337	Tremor	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:612656
6507	SLC1A3	HP:0001321	Cerebellar hypoplasia	-	OMIM:612656
6507	SLC1A3	HP:0012194	Episodic hemiplegia	HP:0040281	ORPHA:2131
6507	SLC1A3	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:209967
6507	SLC1A3	HP:0031284	Flushing	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0002018	Nausea	-	OMIM:612656
6507	SLC1A3	HP:0002019	Constipation	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:209967
6507	SLC1A3	HP:0002014	Diarrhea	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0002015	Dysphagia	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0002013	Vomiting	-	OMIM:612656
6507	SLC1A3	HP:0002013	Vomiting	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0002098	Respiratory distress	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0002063	Rigidity	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0002078	Truncal ataxia	1/1	OMIM:612656
6507	SLC1A3	HP:0002076	Migraine	HP:0040283	ORPHA:209967
6507	SLC1A3	HP:0002076	Migraine	-	OMIM:612656
6507	SLC1A3	HP:0002072	Chorea	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0002039	Anorexia	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0002133	Status epilepticus	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0002131	Episodic ataxia	1/1	OMIM:612656
6507	SLC1A3	HP:0002104	Apnea	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0002183	Phonophobia	-	OMIM:612656
6507	SLC1A3	HP:0002183	Phonophobia	HP:0040282	ORPHA:209967
6507	SLC1A3	HP:0002263	Exaggerated cupid's bow	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0003593	Infantile onset	1/1	OMIM:612656
6507	SLC1A3	HP:0002273	Tetraparesis	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0100710	Impulsivity	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0002344	Progressive neurologic deterioration	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0002353	EEG abnormality	-	ORPHA:2131
6507	SLC1A3	HP:0002321	Vertigo	HP:0040281	ORPHA:209967
6507	SLC1A3	HP:0002321	Vertigo	-	OMIM:612656
6507	SLC1A3	HP:0002315	Headache	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0002315	Headache	HP:0040283	ORPHA:209967
6507	SLC1A3	HP:0007166	Paroxysmal dyskinesia	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0002301	Hemiplegia	HP:0040283	ORPHA:209967
6507	SLC1A3	HP:0002301	Hemiplegia	-	OMIM:612656
6507	SLC1A3	HP:0006852	Episodic generalized hypotonia	1/1	OMIM:612656
6507	SLC1A3	HP:0000640	Gaze-evoked nystagmus	HP:0040283	ORPHA:209967
6507	SLC1A3	HP:0000639	Nystagmus	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0000639	Nystagmus	HP:0040283	OMIM:612656
6507	SLC1A3	HP:0000651	Diplopia	HP:0040283	ORPHA:209967
6507	SLC1A3	HP:0000651	Diplopia	-	OMIM:612656
6507	SLC1A3	HP:0000613	Photophobia	-	OMIM:612656
6507	SLC1A3	HP:0000613	Photophobia	HP:0040281	ORPHA:209967
6507	SLC1A3	HP:0001944	Dehydration	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0031931	Ocular flutter	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0000712	Emotional lability	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0011499	Mydriasis	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0003270	Abdominal distention	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0045074	Thin eyebrow	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0000980	Pallor	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0011675	Arrhythmia	HP:0040284	ORPHA:2131
6507	SLC1A3	HP:0000297	Facial hypotonia	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0005135	Abnormal T-wave	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0032649	Skewfoot	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0002835	Aspiration	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040281	ORPHA:2131
6507	SLC1A3	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0000348	High forehead	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:2131
6507	SLC1A3	HP:0011153	Focal motor seizure	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:2131
6507	SLC1A3	HP:0000577	Exotropia	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:2131
6507	SLC1A3	HP:0000571	Hypometric saccades	HP:0040283	OMIM:612656
6507	SLC1A3	HP:0000565	Esotropia	HP:0040282	ORPHA:2131
6508	SLC4A3	HP:0001279	Syncope	HP:0040283	ORPHA:51083
6508	SLC4A3	HP:0001279	Syncope	-	OMIM:620231
6508	SLC4A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
6508	SLC4A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:620231
6508	SLC4A3	HP:0003621	Juvenile onset	-	OMIM:620231
6508	SLC4A3	HP:0001962	Palpitations	HP:0040282	ORPHA:51083
6508	SLC4A3	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:51083
6508	SLC4A3	HP:0011462	Young adult onset	-	OMIM:620231
6508	SLC4A3	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
6508	SLC4A3	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:51083
6508	SLC4A3	HP:0012232	Shortened QT interval	HP:0040280	ORPHA:51083
6508	SLC4A3	HP:0012232	Shortened QT interval	-	OMIM:620231
6508	SLC4A3	HP:0001695	Cardiac arrest	-	OMIM:620231
6508	SLC4A3	HP:0001664	Torsade de pointes	1/46	OMIM:115000
6508	SLC4A3	HP:0001678	Atrioventricular block	HP:0040283	ORPHA:51083
6508	SLC4A3	HP:0001645	Sudden cardiac death	-	OMIM:115000
6508	SLC4A3	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:51083
6508	SLC4A3	HP:0001645	Sudden cardiac death	-	OMIM:620231
6508	SLC4A3	HP:0001663	Ventricular fibrillation	-	OMIM:115000
6508	SLC4A3	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:51083
6508	SLC4A3	HP:0001663	Ventricular fibrillation	-	OMIM:620231
6508	SLC4A3	HP:0001662	Bradycardia	HP:0040281	ORPHA:51083
6508	SLC4A3	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
6508	SLC4A3	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
6509	SLC1A4	HP:0003739	Myoclonic spasms	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0001276	Hypertonia	HP:0040282	ORPHA:447997
6509	SLC1A4	HP:0001270	Motor delay	HP:0040282	ORPHA:447997
6509	SLC1A4	HP:0001250	Seizure	HP:0040283	OMIM:616657
6509	SLC1A4	HP:0001252	Hypotonia	HP:0040282	ORPHA:447997
6509	SLC1A4	HP:0001252	Hypotonia	-	OMIM:616657
6509	SLC1A4	HP:0001249	Intellectual disability	HP:0040281	ORPHA:447997
6509	SLC1A4	HP:0001249	Intellectual disability	-	OMIM:616657
6509	SLC1A4	HP:0001263	Global developmental delay	2/2	OMIM:616657
6509	SLC1A4	HP:0001257	Spasticity	2/2	OMIM:616657
6509	SLC1A4	HP:0002540	Inability to walk	-	OMIM:616657
6509	SLC1A4	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0002510	Spastic tetraplegia	-	OMIM:616657
6509	SLC1A4	HP:0002500	Abnormal cerebral white matter morphology	1/2	OMIM:616657
6509	SLC1A4	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0001348	Brisk reflexes	1/2	OMIM:616657
6509	SLC1A4	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:447997
6509	SLC1A4	HP:0001347	Hyperreflexia	-	OMIM:616657
6509	SLC1A4	HP:0033725	Thin corpus callosum	2/2	OMIM:616657
6509	SLC1A4	HP:0001344	Absent speech	2/2	OMIM:616657
6509	SLC1A4	HP:0000007	Autosomal recessive inheritance	-	OMIM:616657
6509	SLC1A4	HP:0012167	Hair-pulling	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0002015	Dysphagia	HP:0040282	ORPHA:447997
6509	SLC1A4	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:447997
6509	SLC1A4	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:447997
6509	SLC1A4	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:616657
6509	SLC1A4	HP:0002059	Cerebral atrophy	-	OMIM:616657
6509	SLC1A4	HP:0003487	Babinski sign	2/2	OMIM:616657
6509	SLC1A4	HP:0002188	Delayed CNS myelination	1/2	OMIM:616657
6509	SLC1A4	HP:0002197	Generalized-onset seizure	1/2	OMIM:616657
6509	SLC1A4	HP:0002169	Clonus	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0003593	Infantile onset	2/2	OMIM:616657
6509	SLC1A4	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0002307	Drooling	1/2	OMIM:616657
6509	SLC1A4	HP:0006808	Cerebral hypomyelination	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0000664	Synophrys	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0000752	Hyperactivity	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0000752	Hyperactivity	-	OMIM:616657
6509	SLC1A4	HP:0000737	Irritability	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0000737	Irritability	-	OMIM:616657
6509	SLC1A4	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:447997
6509	SLC1A4	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0011448	Ankle clonus	1/2	OMIM:616657
6509	SLC1A4	HP:0011451	Primary microcephaly	HP:0040282	ORPHA:447997
6509	SLC1A4	HP:0006466	Ankle flexion contracture	1/2	OMIM:616657
6509	SLC1A4	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0000253	Progressive microcephaly	-	OMIM:616657
6509	SLC1A4	HP:0000252	Microcephaly	1/2	OMIM:616657
6509	SLC1A4	HP:0000369	Low-set ears	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0000316	Hypertelorism	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0012469	Infantile spasms	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0012444	Brain atrophy	HP:0040282	ORPHA:447997
6509	SLC1A4	HP:0000411	Protruding ear	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:447997
6509	SLC1A4	HP:0005484	Secondary microcephaly	HP:0040282	ORPHA:447997
6513	SLC2A1	HP:0001156	Brachydactyly	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0002483	Bulbar signs	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0025116	Fetal distress	1/1	OMIM:608885
6513	SLC2A1	HP:0002490	Increased CSF lactate	3/4	OMIM:612126
6513	SLC2A1	HP:0001159	Syndactyly	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0007308	Extrapyramidal dyskinesia	HP:0040282	ORPHA:71277
6513	SLC2A1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040282	ORPHA:1942
6513	SLC2A1	HP:0010920	Zonular cataract	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0009928	Thick nasal alae	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0007256	Abnormal pyramidal sign	-	OMIM:601042
6513	SLC2A1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0007256	Abnormal pyramidal sign	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:53583
6513	SLC2A1	HP:0007229	Intracerebral periventricular calcifications	1/1	OMIM:608885
6513	SLC2A1	HP:0007229	Intracerebral periventricular calcifications	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:71277
6513	SLC2A1	HP:0001276	Hypertonia	HP:0040282	ORPHA:71277
6513	SLC2A1	HP:0001276	Hypertonia	1/1	OMIM:608885
6513	SLC2A1	HP:0001276	Hypertonia	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0001269	Hemiparesis	-	OMIM:606777
6513	SLC2A1	HP:0001269	Hemiparesis	HP:0040282	ORPHA:71277
6513	SLC2A1	HP:0001289	Confusion	-	OMIM:606777
6513	SLC2A1	HP:0001289	Confusion	HP:0040282	ORPHA:71277
6513	SLC2A1	HP:0001284	Areflexia	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0001254	Lethargy	HP:0040282	ORPHA:71277
6513	SLC2A1	HP:0001254	Lethargy	-	OMIM:606777
6513	SLC2A1	HP:0001256	Intellectual disability, mild	HP:0040284	ORPHA:98811
6513	SLC2A1	HP:0001250	Seizure	2/4	OMIM:612126
6513	SLC2A1	HP:0001250	Seizure	15/20	OMIM:606777
6513	SLC2A1	HP:0001250	Seizure	HP:0040282	ORPHA:168577
6513	SLC2A1	HP:0001250	Seizure	1/1	OMIM:608885
6513	SLC2A1	HP:0001250	Seizure	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0001250	Seizure	HP:0040281	ORPHA:71277
6513	SLC2A1	HP:0001250	Seizure	HP:0040282	ORPHA:98811
6513	SLC2A1	HP:0001252	Hypotonia	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0001252	Hypotonia	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0001251	Ataxia	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0001251	Ataxia	HP:0040281	ORPHA:71277
6513	SLC2A1	HP:0001251	Ataxia	1/4	OMIM:612126
6513	SLC2A1	HP:0001251	Ataxia	-	OMIM:606777
6513	SLC2A1	HP:0001251	Ataxia	HP:0040283	ORPHA:1942
6513	SLC2A1	HP:0001251	Ataxia	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0001251	Ataxia	HP:0040283	ORPHA:98811
6513	SLC2A1	HP:0001251	Ataxia	-	OMIM:608885
6513	SLC2A1	HP:0002579	Gastrointestinal dysmotility	HP:0040281	ORPHA:2131
6513	SLC2A1	HP:0001249	Intellectual disability	-	OMIM:606777
6513	SLC2A1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1942
6513	SLC2A1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:168577
6513	SLC2A1	HP:0001249	Intellectual disability	-	OMIM:608885
6513	SLC2A1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:71277
6513	SLC2A1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:53583
6513	SLC2A1	HP:0001249	Intellectual disability	HP:0040283	OMIM:614847
6513	SLC2A1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:98811
6513	SLC2A1	HP:0001266	Choreoathetosis	-	OMIM:612126
6513	SLC2A1	HP:0001266	Choreoathetosis	-	OMIM:601042
6513	SLC2A1	HP:0001266	Choreoathetosis	HP:0040281	ORPHA:98811
6513	SLC2A1	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0001266	Choreoathetosis	-	OMIM:606777
6513	SLC2A1	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:53583
6513	SLC2A1	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:71277
6513	SLC2A1	HP:0001260	Dysarthria	-	OMIM:601042
6513	SLC2A1	HP:0001260	Dysarthria	HP:0040282	ORPHA:53583
6513	SLC2A1	HP:0001260	Dysarthria	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0001260	Dysarthria	HP:0040282	ORPHA:71277
6513	SLC2A1	HP:0001260	Dysarthria	-	OMIM:606777
6513	SLC2A1	HP:0001263	Global developmental delay	2/4	OMIM:612126
6513	SLC2A1	HP:0001263	Global developmental delay	-	OMIM:606777
6513	SLC2A1	HP:0001263	Global developmental delay	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:168577
6513	SLC2A1	HP:0001263	Global developmental delay	-	OMIM:608885
6513	SLC2A1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:71277
6513	SLC2A1	HP:0001258	Spastic paraplegia	-	OMIM:601042
6513	SLC2A1	HP:0001258	Spastic paraplegia	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0001258	Spastic paraplegia	HP:0040282	ORPHA:53583
6513	SLC2A1	HP:0001257	Spasticity	HP:0040281	ORPHA:71277
6513	SLC2A1	HP:0001257	Spasticity	-	OMIM:608885
6513	SLC2A1	HP:0001257	Spasticity	-	OMIM:606777
6513	SLC2A1	HP:0410263	Brain imaging abnormality	-	ORPHA:2131
6513	SLC2A1	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:1942
6513	SLC2A1	HP:0100851	Abnormal emotional state	HP:0040283	ORPHA:1942
6513	SLC2A1	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0002540	Inability to walk	-	OMIM:608885
6513	SLC2A1	HP:0003828	Variable expressivity	-	OMIM:614847
6513	SLC2A1	HP:0003829	Typified by incomplete penetrance	-	OMIM:612126
6513	SLC2A1	HP:0003829	Typified by incomplete penetrance	-	OMIM:614847
6513	SLC2A1	HP:0001347	Hyperreflexia	-	OMIM:601042
6513	SLC2A1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:53583
6513	SLC2A1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0001347	Hyperreflexia	-	OMIM:608885
6513	SLC2A1	HP:0001347	Hyperreflexia	-	OMIM:606777
6513	SLC2A1	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:168577
6513	SLC2A1	HP:0001332	Dystonia	-	OMIM:601042
6513	SLC2A1	HP:0001332	Dystonia	HP:0040282	ORPHA:53583
6513	SLC2A1	HP:0001332	Dystonia	HP:0040281	ORPHA:98811
6513	SLC2A1	HP:0001332	Dystonia	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0001332	Dystonia	HP:0040281	ORPHA:71277
6513	SLC2A1	HP:0001332	Dystonia	-	OMIM:612126
6513	SLC2A1	HP:0001328	Specific learning disability	HP:0040283	ORPHA:98811
6513	SLC2A1	HP:0001328	Specific learning disability	-	OMIM:606777
6513	SLC2A1	HP:0001326	EEG with irregular generalized spike and wave complexes	HP:0040283	ORPHA:1942
6513	SLC2A1	HP:0001344	Absent speech	-	OMIM:608885
6513	SLC2A1	HP:0000007	Autosomal recessive inheritance	HP:0040283	OMIM:606777
6513	SLC2A1	HP:0001334	Communicating hydrocephalus	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0001337	Tremor	HP:0040283	ORPHA:1942
6513	SLC2A1	HP:0001337	Tremor	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0001337	Tremor	-	OMIM:612126
6513	SLC2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:612126
6513	SLC2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:608885
6513	SLC2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:601042
6513	SLC2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:606777
6513	SLC2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614847
6513	SLC2A1	HP:0001336	Myoclonus	HP:0040283	ORPHA:71277
6513	SLC2A1	HP:0001336	Myoclonus	-	OMIM:606777
6513	SLC2A1	HP:0001304	Torsion dystonia	HP:0040282	ORPHA:98811
6513	SLC2A1	HP:0012194	Episodic hemiplegia	HP:0040281	ORPHA:2131
6513	SLC2A1	HP:0000179	Thick lower lip vermilion	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0000154	Wide mouth	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0031284	Flushing	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:168577
6513	SLC2A1	HP:0002719	Recurrent infections	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0002019	Constipation	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0002014	Diarrhea	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0002015	Dysphagia	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0002013	Vomiting	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0100543	Cognitive impairment	-	OMIM:601042
6513	SLC2A1	HP:0002098	Respiratory distress	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:614847
6513	SLC2A1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040284	ORPHA:53583
6513	SLC2A1	HP:0002063	Rigidity	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0002061	Lower limb spasticity	HP:0040284	ORPHA:98811
6513	SLC2A1	HP:0002062	Abnormal pyramidal tract morphology	-	OMIM:601042
6513	SLC2A1	HP:0002076	Migraine	HP:0040283	OMIM:612126
6513	SLC2A1	HP:0002076	Migraine	-	OMIM:601042
6513	SLC2A1	HP:0002072	Chorea	HP:0040283	ORPHA:98811
6513	SLC2A1	HP:0002072	Chorea	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0002072	Chorea	HP:0040282	ORPHA:71277
6513	SLC2A1	HP:0030948	Elevated gamma-glutamyltransferase level	1/1	OMIM:608885
6513	SLC2A1	HP:0002039	Anorexia	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0002059	Cerebral atrophy	-	OMIM:612126
6513	SLC2A1	HP:0003470	Paralysis	-	OMIM:606777
6513	SLC2A1	HP:0003470	Paralysis	HP:0040282	ORPHA:71277
6513	SLC2A1	HP:0003487	Babinski sign	-	OMIM:606777
6513	SLC2A1	HP:0002153	Hyperkalemia	1/1	OMIM:608885
6513	SLC2A1	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:1942
6513	SLC2A1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:98811
6513	SLC2A1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:1942
6513	SLC2A1	HP:0002133	Status epilepticus	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0002133	Status epilepticus	HP:0040281	ORPHA:71277
6513	SLC2A1	HP:0002131	Episodic ataxia	-	OMIM:601042
6513	SLC2A1	HP:0002131	Episodic ataxia	HP:0040282	ORPHA:53583
6513	SLC2A1	HP:0002104	Apnea	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0002188	Delayed CNS myelination	1/1	OMIM:608885
6513	SLC2A1	HP:0002186	Apraxia	HP:0040283	ORPHA:71277
6513	SLC2A1	HP:0003401	Paresthesia	-	OMIM:601042
6513	SLC2A1	HP:0003401	Paresthesia	HP:0040282	ORPHA:98811
6513	SLC2A1	HP:0003401	Paresthesia	HP:0040282	ORPHA:53583
6513	SLC2A1	HP:0002268	Paroxysmal dystonia	-	OMIM:606777
6513	SLC2A1	HP:0002263	Exaggerated cupid's bow	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0003593	Infantile onset	2/4	OMIM:612126
6513	SLC2A1	HP:0003593	Infantile onset	-	OMIM:606777
6513	SLC2A1	HP:0003593	Infantile onset	-	OMIM:608885
6513	SLC2A1	HP:0002273	Tetraparesis	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0003575	Increased intracellular sodium	HP:0040282	ORPHA:168577
6513	SLC2A1	HP:0002240	Hepatomegaly	-	OMIM:608885
6513	SLC2A1	HP:0100710	Impulsivity	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:71277
6513	SLC2A1	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0200134	Epileptic encephalopathy	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0002292	Frontal balding	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0007034	Generalized hyperreflexia	HP:0040282	ORPHA:71277
6513	SLC2A1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:1942
6513	SLC2A1	HP:0011972	Hypoglycorrhachia	-	OMIM:612126
6513	SLC2A1	HP:0011972	Hypoglycorrhachia	-	OMIM:606777
6513	SLC2A1	HP:0011972	Hypoglycorrhachia	-	OMIM:608885
6513	SLC2A1	HP:0011972	Hypoglycorrhachia	HP:0040282	ORPHA:168577
6513	SLC2A1	HP:0011972	Hypoglycorrhachia	HP:0040281	ORPHA:71277
6513	SLC2A1	HP:0011973	Paroxysmal lethargy	-	OMIM:606777
6513	SLC2A1	HP:0002392	EEG with polyspike wave complexes	HP:0040282	ORPHA:1942
6513	SLC2A1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:71277
6513	SLC2A1	HP:0002360	Sleep abnormality	-	OMIM:606777
6513	SLC2A1	HP:0002344	Progressive neurologic deterioration	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0002353	EEG abnormality	-	ORPHA:2131
6513	SLC2A1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:71277
6513	SLC2A1	HP:0002353	EEG abnormality	-	OMIM:612126
6513	SLC2A1	HP:0002353	EEG abnormality	-	OMIM:606777
6513	SLC2A1	HP:0002317	Unsteady gait	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0002315	Headache	-	OMIM:601042
6513	SLC2A1	HP:0002315	Headache	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0002315	Headache	HP:0040282	ORPHA:71277
6513	SLC2A1	HP:0002315	Headache	HP:0040282	ORPHA:53583
6513	SLC2A1	HP:0002332	Lack of peer relationships	HP:0040282	ORPHA:1942
6513	SLC2A1	HP:0010845	EEG with generalized slow activity	HP:0040283	ORPHA:1942
6513	SLC2A1	HP:0100660	Dyskinesia	4/4	OMIM:612126
6513	SLC2A1	HP:0100660	Dyskinesia	-	OMIM:601042
6513	SLC2A1	HP:0100660	Dyskinesia	HP:0040282	ORPHA:71277
6513	SLC2A1	HP:0010819	Atonic seizure	HP:0040282	ORPHA:1942
6513	SLC2A1	HP:0100678	Premature skin wrinkling	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0007166	Paroxysmal dyskinesia	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0007166	Paroxysmal dyskinesia	HP:0040281	ORPHA:98811
6513	SLC2A1	HP:0007166	Paroxysmal dyskinesia	HP:0040281	ORPHA:53583
6513	SLC2A1	HP:0003623	Neonatal onset	1/1	OMIM:608885
6513	SLC2A1	HP:0020181	Reduced haptoglobin level	4/4	OMIM:612126
6513	SLC2A1	HP:0003621	Juvenile onset	2/4	OMIM:612126
6513	SLC2A1	HP:0005525	Spontaneous hemolytic crises	HP:0040282	ORPHA:168577
6513	SLC2A1	HP:0006801	Hyperactive deep tendon reflexes	HP:0040282	ORPHA:98811
6513	SLC2A1	HP:0000639	Nystagmus	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0000639	Nystagmus	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0000639	Nystagmus	1/1	OMIM:608885
6513	SLC2A1	HP:0000651	Diplopia	-	OMIM:601042
6513	SLC2A1	HP:0000651	Diplopia	HP:0040282	ORPHA:53583
6513	SLC2A1	HP:0001944	Dehydration	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0001923	Reticulocytosis	4/4	OMIM:612126
6513	SLC2A1	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:606777
6513	SLC2A1	HP:0012695	Decreased thalamic volume	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0004322	Short stature	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0004322	Short stature	-	OMIM:608885
6513	SLC2A1	HP:0004305	Involuntary movements	HP:0040282	ORPHA:98811
6513	SLC2A1	HP:0031931	Ocular flutter	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0000752	Hyperactivity	HP:0040282	ORPHA:1942
6513	SLC2A1	HP:0100022	Abnormality of movement	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0100018	Nuclear cataract	1/1	OMIM:608885
6513	SLC2A1	HP:0000737	Irritability	HP:0040283	ORPHA:98811
6513	SLC2A1	HP:0000737	Irritability	HP:0040283	OMIM:612126
6513	SLC2A1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:71277
6513	SLC2A1	HP:0000750	Delayed speech and language development	-	OMIM:606777
6513	SLC2A1	HP:0000750	Delayed speech and language development	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:98811
6513	SLC2A1	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0000712	Emotional lability	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1942
6513	SLC2A1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0011499	Mydriasis	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:1942
6513	SLC2A1	HP:0004446	Stomatocytosis	1/1	OMIM:608885
6513	SLC2A1	HP:0004446	Stomatocytosis	HP:0040282	ORPHA:168577
6513	SLC2A1	HP:0003270	Abdominal distention	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0045074	Thin eyebrow	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0000980	Pallor	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0010306	Short thorax	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0000952	Jaundice	1/1	OMIM:608885
6513	SLC2A1	HP:0000952	Jaundice	HP:0040282	ORPHA:168577
6513	SLC2A1	HP:0000961	Cyanosis	HP:0040282	ORPHA:71277
6513	SLC2A1	HP:0011675	Arrhythmia	HP:0040284	ORPHA:2131
6513	SLC2A1	HP:0007704	Paroxysmal involuntary eye movements	-	OMIM:606777
6513	SLC2A1	HP:0007704	Paroxysmal involuntary eye movements	HP:0040282	ORPHA:71277
6513	SLC2A1	HP:0000297	Facial hypotonia	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0000289	Broad philtrum	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0005135	Abnormal T-wave	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0000253	Progressive microcephaly	HP:0040281	ORPHA:71277
6513	SLC2A1	HP:0032649	Skewfoot	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0000252	Microcephaly	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0000252	Microcephaly	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0000252	Microcephaly	-	OMIM:608885
6513	SLC2A1	HP:0032660	Convulsive status epilepticus	1/1	OMIM:608885
6513	SLC2A1	HP:0000219	Thin upper lip vermilion	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0001561	Polyhydramnios	1/1	OMIM:608885
6513	SLC2A1	HP:0002871	Central apnea	HP:0040283	ORPHA:71277
6513	SLC2A1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0002835	Aspiration	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0001510	Growth delay	-	OMIM:608885
6513	SLC2A1	HP:0011097	Epileptic spasm	-	ORPHA:1942
6513	SLC2A1	HP:0002908	Conjugated hyperbilirubinemia	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0002908	Conjugated hyperbilirubinemia	1/1	OMIM:608885
6513	SLC2A1	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040281	ORPHA:2131
6513	SLC2A1	HP:0000343	Long philtrum	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0000348	High forehead	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:2131
6513	SLC2A1	HP:0011197	EEG with focal spike waves	HP:0040281	ORPHA:1942
6513	SLC2A1	HP:0011182	Interictal epileptiform activity	HP:0040283	ORPHA:1942
6513	SLC2A1	HP:0011171	Simple febrile seizure	HP:0040283	ORPHA:1942
6513	SLC2A1	HP:0011170	Generalized myoclonic-atonic seizure	HP:0040281	ORPHA:1942
6513	SLC2A1	HP:0011153	Focal motor seizure	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0000400	Macrotia	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0000486	Strabismus	HP:0040283	ORPHA:71277
6513	SLC2A1	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:2131
6513	SLC2A1	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0012448	Delayed myelination	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0000475	Broad neck	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0000470	Short neck	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0012430	Cerebral white matter hypoplasia	HP:0040283	ORPHA:168577
6513	SLC2A1	HP:0001744	Splenomegaly	4/4	OMIM:612126
6513	SLC2A1	HP:0001744	Splenomegaly	1/1	OMIM:608885
6513	SLC2A1	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0005484	Secondary microcephaly	-	OMIM:606777
6513	SLC2A1	HP:0000518	Cataract	HP:0040282	ORPHA:168577
6513	SLC2A1	HP:0000518	Cataract	-	OMIM:608885
6513	SLC2A1	HP:0000577	Exotropia	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0011220	Prominent forehead	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0000568	Microphthalmia	HP:0040284	ORPHA:1942
6513	SLC2A1	HP:0000565	Esotropia	HP:0040282	ORPHA:2131
6513	SLC2A1	HP:0001878	Hemolytic anemia	4/4	OMIM:612126
6513	SLC2A1	HP:0001878	Hemolytic anemia	1/1	OMIM:608885
6513	SLC2A1	HP:0001877	Abnormal erythrocyte morphology	HP:0040281	ORPHA:71277
6514	SLC2A2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:227810
6514	SLC2A2	HP:0001263	Global developmental delay	-	OMIM:227810
6514	SLC2A2	HP:0000093	Proteinuria	1/3	OMIM:227810
6514	SLC2A2	HP:0001399	Hepatic failure	HP:0040283	ORPHA:2088
6514	SLC2A2	HP:0012024	Hypergalactosemia	1/3	OMIM:227810
6514	SLC2A2	HP:0008897	Postnatal growth retardation	1/3	OMIM:227810
6514	SLC2A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:227810
6514	SLC2A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
6514	SLC2A2	HP:0025466	Beta 2-microglobulinuria	2/3	OMIM:227810
6514	SLC2A2	HP:0500030	Abnormal hepatic glycogen storage	HP:0040281	ORPHA:2088
6514	SLC2A2	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:2088
6514	SLC2A2	HP:0000124	Renal tubular dysfunction	-	OMIM:227810
6514	SLC2A2	HP:0000112	Nephropathy	HP:0040283	ORPHA:2088
6514	SLC2A2	HP:0001406	Intrahepatic cholestasis	1/3	OMIM:227810
6514	SLC2A2	HP:0001402	Hepatocellular carcinoma	HP:0040284	ORPHA:2088
6514	SLC2A2	HP:0002748	Rickets	1/3	OMIM:227810
6514	SLC2A2	HP:0002748	Rickets	HP:0040282	ORPHA:2088
6514	SLC2A2	HP:0002749	Osteomalacia	-	OMIM:227810
6514	SLC2A2	HP:0002024	Malabsorption	-	OMIM:227810
6514	SLC2A2	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
6514	SLC2A2	HP:0030948	Elevated gamma-glutamyltransferase level	1/3	OMIM:227810
6514	SLC2A2	HP:0040270	Impaired glucose tolerance	HP:0040281	ORPHA:2088
6514	SLC2A2	HP:0002155	Hypertriglyceridemia	HP:0040283	ORPHA:2088
6514	SLC2A2	HP:0002150	Hypercalciuria	1/3	OMIM:227810
6514	SLC2A2	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:2088
6514	SLC2A2	HP:0002148	Hypophosphatemia	-	OMIM:227810
6514	SLC2A2	HP:0002148	Hypophosphatemia	HP:0040281	ORPHA:2088
6514	SLC2A2	HP:0003593	Infantile onset	1/3	OMIM:227810
6514	SLC2A2	HP:0002240	Hepatomegaly	2/3	OMIM:227810
6514	SLC2A2	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:2088
6514	SLC2A2	HP:0003584	Late onset	-	OMIM:125853
6514	SLC2A2	HP:0003537	Hypouricemia	-	OMIM:227810
6514	SLC2A2	HP:0011998	Postprandial hyperglycemia	HP:0040282	ORPHA:2088
6514	SLC2A2	HP:0011998	Postprandial hyperglycemia	1/3	OMIM:227810
6514	SLC2A2	HP:0020110	Bone fracture	HP:0040283	ORPHA:2088
6514	SLC2A2	HP:0003623	Neonatal onset	1/3	OMIM:227810
6514	SLC2A2	HP:0004919	Galactose intolerance	HP:0040281	ORPHA:2088
6514	SLC2A2	HP:0004915	Impairment of galactose metabolism	3/3	OMIM:227810
6514	SLC2A2	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
6514	SLC2A2	HP:0001947	Renal tubular acidosis	HP:0040281	ORPHA:2088
6514	SLC2A2	HP:0001942	Metabolic acidosis	HP:0040282	ORPHA:2088
6514	SLC2A2	HP:0001941	Acidosis	-	OMIM:227810
6514	SLC2A2	HP:0031956	Elevated circulating aspartate aminotransferase concentration	2/3	OMIM:227810
6514	SLC2A2	HP:0031956	Elevated circulating aspartate aminotransferase concentration	HP:0040283	ORPHA:2088
6514	SLC2A2	HP:0031964	Elevated circulating alanine aminotransferase concentration	2/3	OMIM:227810
6514	SLC2A2	HP:0031964	Elevated circulating alanine aminotransferase concentration	HP:0040283	ORPHA:2088
6514	SLC2A2	HP:0003076	Glycosuria	3/3	OMIM:227810
6514	SLC2A2	HP:0003076	Glycosuria	HP:0040282	ORPHA:2088
6514	SLC2A2	HP:0004396	Poor appetite	-	OMIM:227810
6514	SLC2A2	HP:0003109	Hyperphosphaturia	1/3	OMIM:227810
6514	SLC2A2	HP:0003109	Hyperphosphaturia	HP:0040281	ORPHA:2088
6514	SLC2A2	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/3	OMIM:227810
6514	SLC2A2	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040283	ORPHA:2088
6514	SLC2A2	HP:0003162	Fasting hypoglycemia	3/3	OMIM:227810
6514	SLC2A2	HP:0003162	Fasting hypoglycemia	HP:0040282	ORPHA:2088
6514	SLC2A2	HP:0000855	Insulin resistance	-	OMIM:125853
6514	SLC2A2	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2088
6514	SLC2A2	HP:0003270	Abdominal distention	-	OMIM:227810
6514	SLC2A2	HP:0003270	Abdominal distention	HP:0040282	ORPHA:2088
6514	SLC2A2	HP:0000938	Osteopenia	HP:0040283	ORPHA:2088
6514	SLC2A2	HP:0000295	Doll-like facies	HP:0040284	ORPHA:2088
6514	SLC2A2	HP:0012202	Increased serum bile acid concentration	1/3	OMIM:227810
6514	SLC2A2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2088
6514	SLC2A2	HP:0001508	Failure to thrive	1/3	OMIM:227810
6514	SLC2A2	HP:0001510	Growth delay	HP:0040282	ORPHA:2088
6514	SLC2A2	HP:0006568	Increased hepatic glycogen content	HP:0040281	ORPHA:2088
6514	SLC2A2	HP:0002919	Ketonuria	1/3	OMIM:227810
6514	SLC2A2	HP:0002909	Generalized aminoaciduria	3/3	OMIM:227810
6514	SLC2A2	HP:0002909	Generalized aminoaciduria	HP:0040283	ORPHA:2088
6514	SLC2A2	HP:0002904	Hyperbilirubinemia	1/3	OMIM:227810
6514	SLC2A2	HP:0002900	Hypokalemia	-	OMIM:227810
6514	SLC2A2	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:2088
6514	SLC2A2	HP:0012468	Chronic acidosis	-	OMIM:227810
6515	SLC2A3	HP:0001268	Mental deterioration	HP:0040281	ORPHA:399
6515	SLC2A3	HP:0001288	Gait disturbance	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0001250	Seizure	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0002591	Polyphagia	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0002540	Inability to walk	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:399
6515	SLC2A3	HP:0001332	Dystonia	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0001336	Myoclonus	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0025401	Staring gaze	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0002067	Bradykinesia	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0002063	Rigidity	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0002072	Chorea	HP:0040281	ORPHA:399
6515	SLC2A3	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0002141	Gait imbalance	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0003487	Babinski sign	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0002169	Clonus	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0100785	Insomnia	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0200136	Oral-pharyngeal dysphagia	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0007010	Poor fine motor coordination	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0002375	Hypokinesia	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0002340	Caudate atrophy	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0002354	Memory impairment	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0010794	Impaired visuospatial constructive cognition	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0002300	Mutism	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0002312	Clumsiness	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0031845	Abnormal libido	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0031843	Abnormally slow thought process	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0004305	Involuntary movements	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0000738	Hallucinations	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0000737	Irritability	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0000739	Anxiety	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0000734	Disinhibition	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0000746	Delusion	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0000741	Apathy	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0000716	Depression	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0000713	Agitation	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0003107	Abnormal circulating cholesterol concentration	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0030842	Choking episodes	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0040140	Degeneration of the striatum	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0031473	Anger	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:399
6515	SLC2A3	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:399
6515	SLC2A3	HP:0001824	Weight loss	HP:0040282	ORPHA:399
6519	SLC3A1	HP:0001250	Seizure	HP:0040282	ORPHA:163693
6519	SLC3A1	HP:0001252	Hypotonia	HP:0040281	ORPHA:163690
6519	SLC3A1	HP:0001252	Hypotonia	HP:0040281	ORPHA:163693
6519	SLC3A1	HP:0002591	Polyphagia	HP:0040281	ORPHA:163690
6519	SLC3A1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:163693
6519	SLC3A1	HP:0000083	Renal insufficiency	-	OMIM:220100
6519	SLC3A1	HP:0000010	Recurrent urinary tract infections	-	OMIM:220100
6519	SLC3A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:220100
6519	SLC3A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:220100
6519	SLC3A1	HP:0000135	Hypogonadism	HP:0040281	ORPHA:163693
6519	SLC3A1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:163690
6519	SLC3A1	HP:0002007	Frontal bossing	HP:0040281	ORPHA:163693
6519	SLC3A1	HP:0003532	Ornithinuria	-	OMIM:220100
6519	SLC3A1	HP:0200125	Mitochondrial respiratory chain defects	HP:0040281	ORPHA:163693
6519	SLC3A1	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:163693
6519	SLC3A1	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:163693
6519	SLC3A1	HP:0000787	Nephrolithiasis	-	OMIM:220100
6519	SLC3A1	HP:0000787	Nephrolithiasis	HP:0040281	ORPHA:163690
6519	SLC3A1	HP:0000787	Nephrolithiasis	HP:0040281	ORPHA:163693
6519	SLC3A1	HP:0003131	Cystinuria	-	OMIM:220100
6519	SLC3A1	HP:0003131	Cystinuria	HP:0040281	ORPHA:163690
6519	SLC3A1	HP:0003131	Cystinuria	HP:0040281	ORPHA:163693
6519	SLC3A1	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:163693
6519	SLC3A1	HP:0003297	Hyperlysinuria	-	OMIM:220100
6519	SLC3A1	HP:0003268	Argininuria	-	OMIM:220100
6519	SLC3A1	HP:0000286	Epicanthus	HP:0040282	ORPHA:163690
6519	SLC3A1	HP:0000278	Retrognathia	HP:0040282	ORPHA:163690
6519	SLC3A1	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:163690
6519	SLC3A1	HP:0001558	Decreased fetal movement	HP:0040281	ORPHA:163690
6519	SLC3A1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:163693
6519	SLC3A1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:163690
6519	SLC3A1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:163693
6519	SLC3A1	HP:0001510	Growth delay	HP:0040281	ORPHA:163690
6519	SLC3A1	HP:0001510	Growth delay	HP:0040281	ORPHA:163693
6519	SLC3A1	HP:0012378	Fatigue	HP:0040282	ORPHA:163690
6519	SLC3A1	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:163690
6519	SLC3A1	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:163693
6519	SLC3A1	HP:0002901	Hypocalcemia	HP:0040282	ORPHA:163693
6519	SLC3A1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:163693
6519	SLC3A1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:163693
6519	SLC3A1	HP:0000527	Long eyelashes	HP:0040281	ORPHA:163693
6519	SLC3A1	HP:0000508	Ptosis	HP:0040281	ORPHA:163690
6521	SLC4A1	HP:0025143	Chills	HP:0040283	ORPHA:822
6521	SLC4A1	HP:0032231	Hypochromia	HP:0040282	ORPHA:3202
6521	SLC4A1	HP:0001254	Lethargy	-	OMIM:611590
6521	SLC4A1	HP:0001251	Ataxia	HP:0040283	ORPHA:822
6521	SLC4A1	HP:0031033	Impaired urinary acidification	17/17	OMIM:179800
6521	SLC4A1	HP:0010972	Anemia of inadequate production	HP:0040283	ORPHA:3202
6521	SLC4A1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:822
6521	SLC4A1	HP:0001324	Muscle weakness	-	OMIM:179800
6521	SLC4A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:611590
6521	SLC4A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:179800
6521	SLC4A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:185020
6521	SLC4A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:612653
6521	SLC4A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:166900
6521	SLC4A1	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:3202
6521	SLC4A1	HP:0000121	Nephrocalcinosis	13/18	OMIM:179800
6521	SLC4A1	HP:0000121	Nephrocalcinosis	-	OMIM:611590
6521	SLC4A1	HP:0002756	Pathologic fracture	-	OMIM:179800
6521	SLC4A1	HP:0001433	Hepatosplenomegaly	-	OMIM:611590
6521	SLC4A1	HP:0002748	Rickets	-	OMIM:611590
6521	SLC4A1	HP:0002749	Osteomalacia	1/18	OMIM:179800
6521	SLC4A1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:822
6521	SLC4A1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:3202
6521	SLC4A1	HP:0003326	Myalgia	HP:0040283	ORPHA:822
6521	SLC4A1	HP:0030950	Pulmonary venous hypertension	HP:0040284	ORPHA:3202
6521	SLC4A1	HP:0002039	Anorexia	-	OMIM:611590
6521	SLC4A1	HP:0011900	Hypofibrinogenemia	HP:0040282	ORPHA:822
6521	SLC4A1	HP:0003573	Increased total bilirubin	HP:0040282	ORPHA:3202
6521	SLC4A1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:822
6521	SLC4A1	HP:0100724	Hypercoagulability	HP:0040282	ORPHA:822
6521	SLC4A1	HP:0008341	Distal renal tubular acidosis	-	OMIM:611590
6521	SLC4A1	HP:0008341	Distal renal tubular acidosis	-	OMIM:179800
6521	SLC4A1	HP:0004804	Congenital hemolytic anemia	HP:0040283	ORPHA:3202
6521	SLC4A1	HP:0001046	Intermittent jaundice	HP:0040283	ORPHA:3202
6521	SLC4A1	HP:0025066	Decreased mean corpuscular volume	HP:0040283	OMIM:611590
6521	SLC4A1	HP:0200042	Skin ulcer	HP:0040284	ORPHA:822
6521	SLC4A1	HP:0001081	Cholelithiasis	HP:0040282	ORPHA:822
6521	SLC4A1	HP:0001081	Cholelithiasis	HP:0040282	ORPHA:3202
6521	SLC4A1	HP:0003621	Juvenile onset	-	OMIM:179800
6521	SLC4A1	HP:0004918	Hyperchloremic metabolic acidosis	-	OMIM:611590
6521	SLC4A1	HP:0005525	Spontaneous hemolytic crises	HP:0040282	ORPHA:822
6521	SLC4A1	HP:0005518	Increased mean corpuscular volume	HP:0040283	ORPHA:3202
6521	SLC4A1	HP:0005502	Increased red cell osmotic fragility	1/1	OMIM:612653
6521	SLC4A1	HP:0005502	Increased red cell osmotic fragility	HP:0040281	ORPHA:3202
6521	SLC4A1	HP:0005502	Increased red cell osmotic fragility	HP:0040281	ORPHA:822
6521	SLC4A1	HP:0001981	Schistocytosis	HP:0040282	ORPHA:3202
6521	SLC4A1	HP:0001978	Extramedullary hematopoiesis	HP:0040283	ORPHA:822
6521	SLC4A1	HP:0001972	Macrocytic anemia	HP:0040282	ORPHA:3202
6521	SLC4A1	HP:0001945	Fever	HP:0040283	ORPHA:822
6521	SLC4A1	HP:0001942	Metabolic acidosis	-	OMIM:611590
6521	SLC4A1	HP:0001923	Reticulocytosis	-	OMIM:185020
6521	SLC4A1	HP:0001923	Reticulocytosis	HP:0040283	OMIM:611590
6521	SLC4A1	HP:0001923	Reticulocytosis	HP:0040282	ORPHA:822
6521	SLC4A1	HP:0001923	Reticulocytosis	1/1	OMIM:612653
6521	SLC4A1	HP:0001923	Reticulocytosis	HP:0040282	ORPHA:3202
6521	SLC4A1	HP:0001930	Nonspherocytic hemolytic anemia	HP:0040281	ORPHA:3202
6521	SLC4A1	HP:0001907	Thromboembolism	HP:0040283	ORPHA:3202
6521	SLC4A1	HP:0001903	Anemia	HP:0040282	ORPHA:822
6521	SLC4A1	HP:0001900	Increased circulating hemoglobin concentration	HP:0040283	ORPHA:3202
6521	SLC4A1	HP:0001901	Polycythemia	HP:0040284	ORPHA:3202
6521	SLC4A1	HP:0001997	Gout	HP:0040284	ORPHA:822
6521	SLC4A1	HP:0004322	Short stature	-	OMIM:611590
6521	SLC4A1	HP:0011462	Young adult onset	1/1	OMIM:612653
6521	SLC4A1	HP:0000787	Nephrolithiasis	10/18	OMIM:179800
6521	SLC4A1	HP:0004446	Stomatocytosis	-	OMIM:185020
6521	SLC4A1	HP:0004445	Elliptocytosis	-	OMIM:166900
6521	SLC4A1	HP:0004444	Spherocytosis	1/1	OMIM:612653
6521	SLC4A1	HP:0004444	Spherocytosis	HP:0040282	ORPHA:822
6521	SLC4A1	HP:0003270	Abdominal distention	HP:0040284	ORPHA:822
6521	SLC4A1	HP:0003281	Increased circulating ferritin concentration	HP:0040282	ORPHA:3202
6521	SLC4A1	HP:4000194	Pseudohyperkalemia	-	OMIM:185020
6521	SLC4A1	HP:0003265	Neonatal hyperbilirubinemia	HP:0040283	ORPHA:3202
6521	SLC4A1	HP:0003259	Elevated circulating creatinine concentration	1/18	OMIM:179800
6521	SLC4A1	HP:0000980	Pallor	HP:0040282	ORPHA:822
6521	SLC4A1	HP:0000980	Pallor	-	OMIM:611590
6521	SLC4A1	HP:0000952	Jaundice	HP:0040282	ORPHA:822
6521	SLC4A1	HP:0000952	Jaundice	-	OMIM:612653
6521	SLC4A1	HP:0000969	Edema	HP:0040283	ORPHA:3202
6521	SLC4A1	HP:0040186	Maculopapular exanthema	HP:0040283	ORPHA:822
6521	SLC4A1	HP:0025548	Increased mean corpuscular hemoglobin concentration	HP:0040283	ORPHA:3202
6521	SLC4A1	HP:0025548	Increased mean corpuscular hemoglobin concentration	HP:0040282	ORPHA:822
6521	SLC4A1	HP:0030036	Isothenuria	-	OMIM:611590
6521	SLC4A1	HP:0001508	Failure to thrive	-	OMIM:611590
6521	SLC4A1	HP:0001510	Growth delay	HP:0040284	ORPHA:822
6521	SLC4A1	HP:0011042	Abnormal circulating potassium concentration	HP:0040282	ORPHA:3202
6521	SLC4A1	HP:0002904	Hyperbilirubinemia	HP:0040282	ORPHA:822
6521	SLC4A1	HP:0002904	Hyperbilirubinemia	-	OMIM:612653
6521	SLC4A1	HP:0002900	Hypokalemia	-	OMIM:611590
6521	SLC4A1	HP:0002900	Hypokalemia	5/18	OMIM:179800
6521	SLC4A1	HP:0002901	Hypocalcemia	-	OMIM:179800
6521	SLC4A1	HP:0001723	Restrictive cardiomyopathy	HP:0040283	ORPHA:822
6521	SLC4A1	HP:0030242	Portal vein thrombosis	HP:0040284	ORPHA:3202
6521	SLC4A1	HP:0012431	Episodic fatigue	HP:0040283	ORPHA:3202
6521	SLC4A1	HP:0001744	Splenomegaly	-	OMIM:185020
6521	SLC4A1	HP:0001744	Splenomegaly	HP:0040282	ORPHA:822
6521	SLC4A1	HP:0001744	Splenomegaly	1/1	OMIM:612653
6521	SLC4A1	HP:0001744	Splenomegaly	HP:0040282	ORPHA:3202
6521	SLC4A1	HP:0001878	Hemolytic anemia	-	OMIM:185020
6521	SLC4A1	HP:0001878	Hemolytic anemia	1/1	OMIM:612653
6521	SLC4A1	HP:0001878	Hemolytic anemia	-	OMIM:166900
6521	SLC4A1	HP:0001878	Hemolytic anemia	HP:0040283	OMIM:611590
6521	SLC4A1	HP:0001878	Hemolytic anemia	HP:0040281	ORPHA:3202
6522	SLC4A2	HP:0008897	Postnatal growth retardation	1/1	OMIM:620366
6522	SLC4A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620366
6522	SLC4A2	HP:0007663	Reduced visual acuity	1/1	OMIM:620366
6522	SLC4A2	HP:0002756	Pathologic fracture	1/1	OMIM:620366
6522	SLC4A2	HP:0002737	Thick skull base	1/1	OMIM:620366
6522	SLC4A2	HP:0002153	Hyperkalemia	1/1	OMIM:620366
6522	SLC4A2	HP:0003581	Adult onset	1/1	OMIM:620366
6522	SLC4A2	HP:0001085	Papilledema	1/1	OMIM:620366
6522	SLC4A2	HP:0012625	Stage 3 chronic kidney disease	1/1	OMIM:620366
6522	SLC4A2	HP:0001903	Anemia	1/1	OMIM:620366
6522	SLC4A2	HP:0005652	Cortical sclerosis	1/1	OMIM:620366
6522	SLC4A2	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:620366
6522	SLC4A2	HP:0000843	Hyperparathyroidism	1/1	OMIM:620366
6522	SLC4A2	HP:0003259	Elevated circulating creatinine concentration	1/1	OMIM:620366
6522	SLC4A2	HP:0011002	Osteopetrosis	1/1	OMIM:620366
6522	SLC4A2	HP:0011001	Increased bone mineral density	1/1	OMIM:620366
6523	SLC5A1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:35710
6523	SLC5A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:606824
6523	SLC5A1	HP:0002024	Malabsorption	-	OMIM:606824
6523	SLC5A1	HP:0002028	Chronic diarrhea	2/2	OMIM:606824
6523	SLC5A1	HP:0002014	Diarrhea	HP:0040281	ORPHA:35710
6523	SLC5A1	HP:0002013	Vomiting	HP:0040283	ORPHA:35710
6523	SLC5A1	HP:0033310	Osmotic diarrhea	HP:0040281	ORPHA:35710
6523	SLC5A1	HP:0003623	Neonatal onset	2/2	OMIM:606824
6523	SLC5A1	HP:0004924	Abnormal oral glucose tolerance	-	OMIM:606824
6523	SLC5A1	HP:0001944	Dehydration	HP:0040281	ORPHA:35710
6523	SLC5A1	HP:0001945	Fever	HP:0040284	ORPHA:35710
6523	SLC5A1	HP:0001942	Metabolic acidosis	-	OMIM:606824
6523	SLC5A1	HP:0001986	Hypertonic dehydration	2/2	OMIM:606824
6523	SLC5A1	HP:0003076	Glycosuria	-	OMIM:606824
6523	SLC5A1	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:35710
6523	SLC5A1	HP:0004395	Malnutrition	HP:0040282	ORPHA:35710
6523	SLC5A1	HP:0000790	Hematuria	HP:0040284	ORPHA:35710
6523	SLC5A1	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:35710
6523	SLC5A1	HP:0003228	Hypernatremia	HP:0040282	ORPHA:35710
6523	SLC5A1	HP:0003270	Abdominal distention	HP:0040282	ORPHA:35710
6523	SLC5A1	HP:0003270	Abdominal distention	-	OMIM:606824
6523	SLC5A1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:35710
6523	SLC5A1	HP:0001508	Failure to thrive	-	OMIM:606824
6523	SLC5A1	HP:0030143	Hyperactive bowel sounds	-	OMIM:606824
6523	SLC5A1	HP:0030143	Hyperactive bowel sounds	HP:0040283	ORPHA:35710
6523	SLC5A1	HP:0001824	Weight loss	HP:0040281	ORPHA:35710
6524	SLC5A2	HP:0002591	Polyphagia	-	OMIM:233100
6524	SLC5A2	HP:0003828	Variable expressivity	-	OMIM:233100
6524	SLC5A2	HP:0008855	Moderate postnatal growth retardation	HP:0040283	ORPHA:69076
6524	SLC5A2	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:69076
6524	SLC5A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:233100
6524	SLC5A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:233100
6524	SLC5A2	HP:0000124	Renal tubular dysfunction	HP:0040280	ORPHA:69076
6524	SLC5A2	HP:0000112	Nephropathy	HP:0040280	ORPHA:69076
6524	SLC5A2	HP:0000103	Polyuria	-	OMIM:233100
6524	SLC5A2	HP:0010677	Enuresis nocturna	HP:0040283	OMIM:233100
6524	SLC5A2	HP:0004924	Abnormal oral glucose tolerance	-	ORPHA:69076
6524	SLC5A2	HP:0001944	Dehydration	HP:0040283	ORPHA:69076
6524	SLC5A2	HP:0001946	Ketosis	HP:0040283	ORPHA:69076
6524	SLC5A2	HP:0001959	Polydipsia	-	OMIM:233100
6524	SLC5A2	HP:0003076	Glycosuria	HP:0040280	ORPHA:69076
6524	SLC5A2	HP:0003076	Glycosuria	-	OMIM:233100
6524	SLC5A2	HP:0003074	Hyperglycemia	-	ORPHA:69076
6524	SLC5A2	HP:0000805	Enuresis	-	ORPHA:69076
6524	SLC5A2	HP:0000855	Insulin resistance	-	ORPHA:69076
6524	SLC5A2	HP:0040214	Abnormal circulating insulin concentration	-	ORPHA:69076
6524	SLC5A2	HP:0040217	Elevated hemoglobin A1c	-	ORPHA:69076
6528	SLC5A5	HP:0001254	Lethargy	-	OMIM:274400
6528	SLC5A5	HP:0001254	Lethargy	HP:0040283	ORPHA:95716
6528	SLC5A5	HP:0001252	Hypotonia	HP:0040283	ORPHA:95716
6528	SLC5A5	HP:0001249	Intellectual disability	-	OMIM:274400
6528	SLC5A5	HP:0001249	Intellectual disability	HP:0040283	ORPHA:95716
6528	SLC5A5	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:95716
6528	SLC5A5	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:95716
6528	SLC5A5	HP:0008828	Delayed proximal femoral epiphyseal ossification	HP:0040282	ORPHA:95716
6528	SLC5A5	HP:0000007	Autosomal recessive inheritance	-	OMIM:274400
6528	SLC5A5	HP:0025483	Abnormal circulating thyroglobulin concentration	HP:0040283	ORPHA:95716
6528	SLC5A5	HP:0025482	Positive perchlorate discharge test	HP:0040283	ORPHA:95716
6528	SLC5A5	HP:0000158	Macroglossia	HP:0040283	ORPHA:95716
6528	SLC5A5	HP:0000158	Macroglossia	-	OMIM:274400
6528	SLC5A5	HP:0031219	Reduced radioactive iodine uptake	HP:0040283	ORPHA:95716
6528	SLC5A5	HP:0031220	Increased radioactive iodine uptake	HP:0040283	ORPHA:95716
6528	SLC5A5	HP:0002019	Constipation	-	OMIM:274400
6528	SLC5A5	HP:0002019	Constipation	HP:0040282	ORPHA:95716
6528	SLC5A5	HP:0002045	Hypothermia	HP:0040283	ORPHA:95716
6528	SLC5A5	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:95716
6528	SLC5A5	HP:0008263	Thyroid defect in oxidation and organification of iodide	HP:0040282	ORPHA:95716
6528	SLC5A5	HP:0011437	Maternal autoimmune disease	-	ORPHA:95716
6528	SLC5A5	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:95716
6528	SLC5A5	HP:0004491	Large posterior fontanelle	HP:0040282	ORPHA:95716
6528	SLC5A5	HP:0000851	Congenital hypothyroidism	HP:0040282	ORPHA:95716
6528	SLC5A5	HP:0000853	Goiter	HP:0040282	ORPHA:95716
6528	SLC5A5	HP:0000853	Goiter	-	OMIM:274400
6528	SLC5A5	HP:0000821	Hypothyroidism	-	OMIM:274400
6528	SLC5A5	HP:0003265	Neonatal hyperbilirubinemia	HP:0040283	ORPHA:95716
6528	SLC5A5	HP:0000958	Dry skin	-	OMIM:274400
6528	SLC5A5	HP:0000282	Facial edema	HP:0040283	ORPHA:95716
6528	SLC5A5	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:95716
6528	SLC5A5	HP:0001537	Umbilical hernia	-	OMIM:274400
6528	SLC5A5	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:95716
6528	SLC5A5	HP:0001510	Growth delay	-	OMIM:274400
6528	SLC5A5	HP:0031507	Decreased circulating T4 concentration	HP:0040281	ORPHA:95716
6528	SLC5A5	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:95716
6528	SLC5A5	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	HP:0040281	ORPHA:95716
6528	SLC5A5	HP:0001662	Bradycardia	HP:0040283	ORPHA:95716
6528	SLC5A5	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:95716
6528	SLC5A5	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:95716
6529	SLC6A1	HP:0001159	Syndactyly	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040282	ORPHA:1942
6529	SLC6A1	HP:0009928	Thick nasal alae	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0007256	Abnormal pyramidal sign	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0001252	Hypotonia	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0001252	Hypotonia	1/10	OMIM:616421
6529	SLC6A1	HP:0001251	Ataxia	HP:0040283	ORPHA:1942
6529	SLC6A1	HP:0001251	Ataxia	1/10	OMIM:616421
6529	SLC6A1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1942
6529	SLC6A1	HP:0001249	Intellectual disability	10/10	OMIM:616421
6529	SLC6A1	HP:0001263	Global developmental delay	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0001263	Global developmental delay	8/9	OMIM:616421
6529	SLC6A1	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:1942
6529	SLC6A1	HP:0100851	Abnormal emotional state	HP:0040283	ORPHA:1942
6529	SLC6A1	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0001326	EEG with irregular generalized spike and wave complexes	HP:0040283	ORPHA:1942
6529	SLC6A1	HP:0001337	Tremor	HP:0040283	ORPHA:1942
6529	SLC6A1	HP:0001337	Tremor	2/10	OMIM:616421
6529	SLC6A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616421
6529	SLC6A1	HP:0002650	Scoliosis	1/10	OMIM:616421
6529	SLC6A1	HP:0000179	Thick lower lip vermilion	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0000154	Wide mouth	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:1942
6529	SLC6A1	HP:0002121	Generalized non-motor (absence) seizure	8/9	OMIM:616421
6529	SLC6A1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:1942
6529	SLC6A1	HP:0002188	Delayed CNS myelination	1/10	OMIM:616421
6529	SLC6A1	HP:0200134	Epileptic encephalopathy	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0002292	Frontal balding	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:1942
6529	SLC6A1	HP:0007018	Attention deficit hyperactivity disorder	2/10	OMIM:616421
6529	SLC6A1	HP:0002392	EEG with polyspike wave complexes	HP:0040282	ORPHA:1942
6529	SLC6A1	HP:0002317	Unsteady gait	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0002332	Lack of peer relationships	HP:0040282	ORPHA:1942
6529	SLC6A1	HP:0010845	EEG with generalized slow activity	HP:0040283	ORPHA:1942
6529	SLC6A1	HP:0025097	Eyelid myoclonus	5/8	OMIM:616421
6529	SLC6A1	HP:0010819	Atonic seizure	5/8	OMIM:616421
6529	SLC6A1	HP:0010819	Atonic seizure	HP:0040282	ORPHA:1942
6529	SLC6A1	HP:0100678	Premature skin wrinkling	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0003621	Juvenile onset	1/10	OMIM:616421
6529	SLC6A1	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0000752	Hyperactivity	HP:0040282	ORPHA:1942
6529	SLC6A1	HP:0000750	Delayed speech and language development	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1942
6529	SLC6A1	HP:0000729	Autistic behavior	7/10	OMIM:616421
6529	SLC6A1	HP:0011463	Childhood onset	9/10	OMIM:616421
6529	SLC6A1	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:1942
6529	SLC6A1	HP:0000289	Broad philtrum	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0000252	Microcephaly	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0000219	Thin upper lip vermilion	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0011097	Epileptic spasm	-	ORPHA:1942
6529	SLC6A1	HP:0000343	Long philtrum	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0032794	Myoclonic seizure	2/9	OMIM:616421
6529	SLC6A1	HP:0011197	EEG with focal spike waves	HP:0040281	ORPHA:1942
6529	SLC6A1	HP:0011182	Interictal epileptiform activity	HP:0040283	ORPHA:1942
6529	SLC6A1	HP:0011171	Simple febrile seizure	HP:0040283	ORPHA:1942
6529	SLC6A1	HP:0011170	Generalized myoclonic-atonic seizure	8/8	OMIM:616421
6529	SLC6A1	HP:0011170	Generalized myoclonic-atonic seizure	HP:0040281	ORPHA:1942
6529	SLC6A1	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0011220	Prominent forehead	HP:0040284	ORPHA:1942
6529	SLC6A1	HP:0000568	Microphthalmia	HP:0040284	ORPHA:1942
6530	SLC6A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:604715
6530	SLC6A2	HP:0012173	Orthostatic tachycardia	2/2	OMIM:604715
6530	SLC6A2	HP:0003345	Elevated urinary norepinephrine level	2/2	OMIM:604715
6530	SLC6A2	HP:0003621	Juvenile onset	2/2	OMIM:604715
6531	SLC6A3	HP:0002487	Hyperkinetic movements	6/11	OMIM:613135
6531	SLC6A3	HP:0002451	Limb dystonia	-	OMIM:613135
6531	SLC6A3	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:238455
6531	SLC6A3	HP:0007256	Abnormal pyramidal sign	7/11	OMIM:613135
6531	SLC6A3	HP:0001276	Hypertonia	HP:0040282	ORPHA:238455
6531	SLC6A3	HP:0001276	Hypertonia	3/3	OMIM:613135
6531	SLC6A3	HP:0001263	Global developmental delay	HP:0040282	ORPHA:238455
6531	SLC6A3	HP:0001263	Global developmental delay	3/3	OMIM:613135
6531	SLC6A3	HP:0002509	Limb hypertonia	HP:0040282	ORPHA:238455
6531	SLC6A3	HP:0012048	Oromandibular dystonia	11/11	OMIM:613135
6531	SLC6A3	HP:0001332	Dystonia	HP:0040281	ORPHA:238455
6531	SLC6A3	HP:0001332	Dystonia	6/11	OMIM:613135
6531	SLC6A3	HP:0001344	Absent speech	HP:0040282	ORPHA:238455
6531	SLC6A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:613135
6531	SLC6A3	HP:0001337	Tremor	8/11	OMIM:613135
6531	SLC6A3	HP:0001300	Parkinsonism	HP:0040281	ORPHA:238455
6531	SLC6A3	HP:0001300	Parkinsonism	6/11	OMIM:613135
6531	SLC6A3	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:238455
6531	SLC6A3	HP:0008936	Axial hypotonia	8/11	OMIM:613135
6531	SLC6A3	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:238455
6531	SLC6A3	HP:0002020	Gastroesophageal reflux	-	OMIM:613135
6531	SLC6A3	HP:0002019	Constipation	HP:0040282	ORPHA:238455
6531	SLC6A3	HP:0002019	Constipation	-	OMIM:613135
6531	SLC6A3	HP:0002067	Bradykinesia	HP:0040282	ORPHA:238455
6531	SLC6A3	HP:0002067	Bradykinesia	10/11	OMIM:613135
6531	SLC6A3	HP:0002063	Rigidity	10/11	OMIM:613135
6531	SLC6A3	HP:0002062	Abnormal pyramidal tract morphology	-	OMIM:613135
6531	SLC6A3	HP:0002072	Chorea	HP:0040282	ORPHA:238455
6531	SLC6A3	HP:0002072	Chorea	5/11	OMIM:613135
6531	SLC6A3	HP:0002194	Delayed gross motor development	9/9	OMIM:613135
6531	SLC6A3	HP:0010553	Oculogyric crisis	HP:0040282	ORPHA:238455
6531	SLC6A3	HP:0010553	Oculogyric crisis	2/11	OMIM:613135
6531	SLC6A3	HP:0003593	Infantile onset	8/11	OMIM:613135
6531	SLC6A3	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:238455
6531	SLC6A3	HP:0011968	Feeding difficulties	6/11	OMIM:613135
6531	SLC6A3	HP:0002396	Cogwheel rigidity	4/11	OMIM:613135
6531	SLC6A3	HP:0002375	Hypokinesia	HP:0040282	ORPHA:238455
6531	SLC6A3	HP:0003676	Progressive	-	OMIM:613135
6531	SLC6A3	HP:0100660	Dyskinesia	5/11	OMIM:613135
6531	SLC6A3	HP:0003623	Neonatal onset	3/11	OMIM:613135
6531	SLC6A3	HP:0002310	Orofacial dyskinesia	HP:0040282	ORPHA:238455
6531	SLC6A3	HP:0004354	Abnormal circulating carboxylic acid concentration	HP:0040282	ORPHA:238455
6531	SLC6A3	HP:0031931	Ocular flutter	8/11	OMIM:613135
6531	SLC6A3	HP:0100021	Cerebral palsy	HP:0040282	ORPHA:238455
6531	SLC6A3	HP:0000737	Irritability	HP:0040282	ORPHA:238455
6531	SLC6A3	HP:0034201	Increased CSF homovanillic acid concentration	3/3	OMIM:613135
6531	SLC6A3	HP:0000338	Hypomimic face	11/11	OMIM:613135
6531	SLC6A3	HP:0000338	Hypomimic face	HP:0040282	ORPHA:238455
6532	SLC6A4	HP:0000006	Autosomal dominant inheritance	-	OMIM:164230
6532	SLC6A4	HP:0012166	Skin-picking	-	OMIM:164230
6532	SLC6A4	HP:0000739	Anxiety	-	OMIM:164230
6532	SLC6A4	HP:0000716	Depression	-	OMIM:164230
6532	SLC6A4	HP:0000722	Compulsive behaviors	-	OMIM:164230
6532	SLC6A4	HP:0030212	Collectionism	-	OMIM:164230
6533	SLC6A6	HP:0025169	Left ventricular systolic dysfunction	2/2	OMIM:145350
6533	SLC6A6	HP:0500182	Hypotaurinemia	4/4	OMIM:145350
6533	SLC6A6	HP:0007401	Macular atrophy	2/2	OMIM:145350
6533	SLC6A6	HP:0000006	Autosomal dominant inheritance	-	OMIM:145350
6533	SLC6A6	HP:0003593	Infantile onset	2/2	OMIM:145350
6533	SLC6A6	HP:0003577	Congenital onset	2/2	OMIM:145350
6533	SLC6A6	HP:0200070	Peripheral retinal atrophy	2/2	OMIM:145350
6533	SLC6A6	HP:0008499	High hypermetropia	2/2	OMIM:145350
6533	SLC6A6	HP:0000639	Nystagmus	2/2	OMIM:145350
6533	SLC6A6	HP:0030609	Photoreceptor layer loss on macular OCT	4/4	OMIM:145350
6533	SLC6A6	HP:0007843	Attenuation of retinal blood vessels	2/2	OMIM:145350
6533	SLC6A6	HP:0007814	Retinal pigment epithelial mottling	1/2	OMIM:145350
6533	SLC6A6	HP:0001644	Dilated cardiomyopathy	2/2	OMIM:145350
6533	SLC6A6	HP:0001634	Mitral valve prolapse	-	OMIM:145350
6533	SLC6A6	HP:0030329	Retinal thinning	2/2	OMIM:145350
6533	SLC6A6	HP:0007994	Peripheral visual field loss	2/2	OMIM:145350
6535	SLC6A8	HP:0008583	Underfolded superior helices	-	OMIM:300352
6535	SLC6A8	HP:0001276	Hypertonia	1/3	OMIM:300352
6535	SLC6A8	HP:0001276	Hypertonia	HP:0040282	ORPHA:52503
6535	SLC6A8	HP:0001270	Motor delay	-	OMIM:300352
6535	SLC6A8	HP:0001288	Gait disturbance	-	OMIM:300352
6535	SLC6A8	HP:0001250	Seizure	-	OMIM:300352
6535	SLC6A8	HP:0001250	Seizure	HP:0040281	ORPHA:52503
6535	SLC6A8	HP:0001252	Hypotonia	1/3	OMIM:300352
6535	SLC6A8	HP:0001252	Hypotonia	HP:0040282	ORPHA:52503
6535	SLC6A8	HP:0001251	Ataxia	HP:0040282	ORPHA:52503
6535	SLC6A8	HP:0001249	Intellectual disability	3/3	OMIM:300352
6535	SLC6A8	HP:0001249	Intellectual disability	HP:0040281	ORPHA:52503
6535	SLC6A8	HP:0002595	Ileus	-	OMIM:300352
6535	SLC6A8	HP:0002595	Ileus	HP:0040282	ORPHA:52503
6535	SLC6A8	HP:0001263	Global developmental delay	4/4	OMIM:300352
6535	SLC6A8	HP:0001263	Global developmental delay	HP:0040281	ORPHA:52503
6535	SLC6A8	HP:0001257	Spasticity	-	OMIM:300352
6535	SLC6A8	HP:0000098	Tall stature	-	OMIM:300352
6535	SLC6A8	HP:0001382	Joint hypermobility	-	OMIM:300352
6535	SLC6A8	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:52503
6535	SLC6A8	HP:0008872	Feeding difficulties in infancy	-	OMIM:300352
6535	SLC6A8	HP:0001332	Dystonia	-	OMIM:300352
6535	SLC6A8	HP:0001332	Dystonia	HP:0040282	ORPHA:52503
6535	SLC6A8	HP:0001319	Neonatal hypotonia	-	OMIM:300352
6535	SLC6A8	HP:0000194	Open mouth	HP:0040282	ORPHA:52503
6535	SLC6A8	HP:0008936	Axial hypotonia	1/3	OMIM:300352
6535	SLC6A8	HP:0012113	Abnormal circulating creatine concentration	HP:0040281	ORPHA:52503
6535	SLC6A8	HP:0001419	X-linked recessive inheritance	-	OMIM:300352
6535	SLC6A8	HP:0002019	Constipation	-	OMIM:300352
6535	SLC6A8	HP:0002019	Constipation	HP:0040282	ORPHA:52503
6535	SLC6A8	HP:0002013	Vomiting	-	OMIM:300352
6535	SLC6A8	HP:0011800	Midface retrusion	-	OMIM:300352
6535	SLC6A8	HP:6000127	Elevated urinary creatine/creatinine ratio	-	OMIM:300352
6535	SLC6A8	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:300352
6535	SLC6A8	HP:0002072	Chorea	HP:0040282	ORPHA:52503
6535	SLC6A8	HP:0002058	Myopathic facies	-	OMIM:300352
6535	SLC6A8	HP:0002136	Broad-based gait	1/3	OMIM:300352
6535	SLC6A8	HP:0003593	Infantile onset	13/13	OMIM:300352
6535	SLC6A8	HP:0002251	Aganglionic megacolon	-	OMIM:300352
6535	SLC6A8	HP:0002251	Aganglionic megacolon	HP:0040282	ORPHA:52503
6535	SLC6A8	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:300352
6535	SLC6A8	HP:0007057	Poor hand-eye coordination	-	OMIM:300352
6535	SLC6A8	HP:0025051	Reduced brain creatine level by MRS	4/4	OMIM:300352
6535	SLC6A8	HP:0002305	Athetosis	HP:0040282	ORPHA:52503
6535	SLC6A8	HP:0004322	Short stature	-	OMIM:300352
6535	SLC6A8	HP:0004322	Short stature	HP:0040282	ORPHA:52503
6535	SLC6A8	HP:0004326	Cachexia	HP:0040282	ORPHA:52503
6535	SLC6A8	HP:0000752	Hyperactivity	HP:0040282	ORPHA:52503
6535	SLC6A8	HP:0000733	Motor stereotypy	-	OMIM:300352
6535	SLC6A8	HP:0000750	Delayed speech and language development	2/4	OMIM:300352
6535	SLC6A8	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:52503
6535	SLC6A8	HP:0000742	Self-mutilation	HP:0040282	ORPHA:52503
6535	SLC6A8	HP:0000718	Aggressive behavior	-	OMIM:300352
6535	SLC6A8	HP:0000729	Autistic behavior	HP:0040282	ORPHA:52503
6535	SLC6A8	HP:0012760	Reduced social responsiveness	-	OMIM:300352
6535	SLC6A8	HP:0034291	Elevated circulating creatine concentration	1/1	OMIM:300352
6535	SLC6A8	HP:0000298	Mask-like facies	HP:0040283	ORPHA:52503
6535	SLC6A8	HP:0000275	Narrow face	-	OMIM:300352
6535	SLC6A8	HP:0000276	Long face	-	OMIM:300352
6535	SLC6A8	HP:0000272	Malar flattening	-	OMIM:300352
6535	SLC6A8	HP:0000272	Malar flattening	HP:0040282	ORPHA:52503
6535	SLC6A8	HP:0000252	Microcephaly	2/3	OMIM:300352
6535	SLC6A8	HP:0000252	Microcephaly	HP:0040283	ORPHA:52503
6535	SLC6A8	HP:0001582	Redundant skin	HP:0040283	ORPHA:52503
6535	SLC6A8	HP:0001508	Failure to thrive	1/3	OMIM:300352
6535	SLC6A8	HP:0011098	Speech apraxia	2/3	OMIM:300352
6535	SLC6A8	HP:0000337	Broad forehead	-	OMIM:300352
6535	SLC6A8	HP:0001657	Prolonged QT interval	7/18	OMIM:300352
6535	SLC6A8	HP:0000303	Mandibular prognathia	-	OMIM:300352
6535	SLC6A8	HP:0012448	Delayed myelination	-	OMIM:300352
6535	SLC6A8	HP:0001761	Pes cavus	-	OMIM:300352
6535	SLC6A8	HP:0000508	Ptosis	-	OMIM:300352
6535	SLC6A8	HP:0000508	Ptosis	HP:0040283	ORPHA:52503
6535	SLC6A8	HP:0000577	Exotropia	-	OMIM:300352
6535	SLC6A8	HP:0000540	Hypermetropia	-	OMIM:300352
6536	SLC6A9	HP:0001188	Hand clenching	-	OMIM:617301
6536	SLC6A9	HP:0025116	Fetal distress	-	OMIM:617301
6536	SLC6A9	HP:0001298	Encephalopathy	-	OMIM:617301
6536	SLC6A9	HP:0001276	Hypertonia	-	OMIM:617301
6536	SLC6A9	HP:0001263	Global developmental delay	-	OMIM:617301
6536	SLC6A9	HP:0001371	Flexion contracture	-	OMIM:617301
6536	SLC6A9	HP:0001382	Joint hypermobility	-	OMIM:617301
6536	SLC6A9	HP:0000007	Autosomal recessive inheritance	-	OMIM:617301
6536	SLC6A9	HP:0008936	Axial hypotonia	-	OMIM:617301
6536	SLC6A9	HP:0002015	Dysphagia	-	OMIM:617301
6536	SLC6A9	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:617301
6536	SLC6A9	HP:0002058	Myopathic facies	-	OMIM:617301
6536	SLC6A9	HP:0002119	Ventriculomegaly	-	OMIM:617301
6536	SLC6A9	HP:0002104	Apnea	-	OMIM:617301
6536	SLC6A9	HP:0002169	Clonus	-	OMIM:617301
6536	SLC6A9	HP:0002267	Exaggerated startle response	-	OMIM:617301
6536	SLC6A9	HP:0003577	Congenital onset	-	OMIM:617301
6536	SLC6A9	HP:0000648	Optic atrophy	12/20	OMIM:617301
6536	SLC6A9	HP:0003273	Hip contracture	-	OMIM:617301
6536	SLC6A9	HP:0000278	Retrognathia	-	OMIM:617301
6536	SLC6A9	HP:0000268	Dolichocephaly	-	OMIM:617301
6536	SLC6A9	HP:0002816	Genu recurvatum	-	OMIM:617301
6536	SLC6A9	HP:0002827	Hip dislocation	-	OMIM:617301
6536	SLC6A9	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:617301
6536	SLC6A9	HP:0000243	Trigonocephaly	-	OMIM:617301
6536	SLC6A9	HP:0000252	Microcephaly	HP:0040283	OMIM:617301
6536	SLC6A9	HP:0002878	Respiratory failure	-	OMIM:617301
6536	SLC6A9	HP:0000369	Low-set ears	-	OMIM:617301
6536	SLC6A9	HP:0002987	Elbow flexion contracture	-	OMIM:617301
6536	SLC6A9	HP:0005280	Depressed nasal bridge	-	OMIM:617301
6536	SLC6A9	HP:0000463	Anteverted nares	-	OMIM:617301
6536	SLC6A9	HP:0001762	Talipes equinovarus	-	OMIM:617301
6536	SLC6A9	HP:0001845	Overlapping toe	-	OMIM:617301
6536	SLC6A9	HP:0000527	Long eyelashes	-	OMIM:617301
6536	SLC6A9	HP:0000508	Ptosis	-	OMIM:617301
6548	SLC9A1	HP:0001272	Cerebellar atrophy	HP:0040283	OMIM:616291
6548	SLC9A1	HP:0001270	Motor delay	3/3	OMIM:616291
6548	SLC9A1	HP:0001251	Ataxia	3/3	OMIM:616291
6548	SLC9A1	HP:0001260	Dysarthria	-	OMIM:616291
6548	SLC9A1	HP:0002522	Areflexia of lower limbs	3/3	OMIM:616291
6548	SLC9A1	HP:0012046	Areflexia of upper limbs	3/3	OMIM:616291
6548	SLC9A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616291
6548	SLC9A1	HP:0001310	Dysmetria	3/3	OMIM:616291
6548	SLC9A1	HP:0002066	Gait ataxia	3/3	OMIM:616291
6548	SLC9A1	HP:0002075	Dysdiadochokinesis	3/3	OMIM:616291
6548	SLC9A1	HP:0002070	Limb ataxia	3/3	OMIM:616291
6548	SLC9A1	HP:0002345	Action tremor	-	OMIM:616291
6548	SLC9A1	HP:0003676	Progressive	-	OMIM:616291
6548	SLC9A1	HP:0006855	Cerebellar vermis atrophy	1/3	OMIM:616291
6548	SLC9A1	HP:0000639	Nystagmus	HP:0040283	OMIM:616291
6548	SLC9A1	HP:0004322	Short stature	HP:0040283	OMIM:616291
6548	SLC9A1	HP:0031936	Delayed ability to walk	3/3	OMIM:616291
6548	SLC9A1	HP:0011463	Childhood onset	3/3	OMIM:616291
6548	SLC9A1	HP:0000957	Cafe-au-lait spot	2/3	OMIM:616291
6548	SLC9A1	HP:0000407	Sensorineural hearing impairment	3/3	OMIM:616291
6548	SLC9A1	HP:0001756	Vestibular hyporeflexia	1/1	OMIM:616291
6550	SLC9A3	HP:0010931	Abnormal blood sodium concentration	0/7	OMIM:616868
6550	SLC9A3	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
6550	SLC9A3	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
6550	SLC9A3	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
6550	SLC9A3	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
6550	SLC9A3	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
6550	SLC9A3	HP:0008897	Postnatal growth retardation	2/7	OMIM:616868
6550	SLC9A3	HP:0032484	Elevated fecal sodium	6/7	OMIM:616868
6550	SLC9A3	HP:0032487	Reduced fecal osmolality	4/5	OMIM:616868
6550	SLC9A3	HP:0032489	Elevated fecal pH	2/4	OMIM:616868
6550	SLC9A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:616868
6550	SLC9A3	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
6550	SLC9A3	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
6550	SLC9A3	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
6550	SLC9A3	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
6550	SLC9A3	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
6550	SLC9A3	HP:0002037	Inflammation of the large intestine	2/7	OMIM:616868
6550	SLC9A3	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
6550	SLC9A3	HP:0002099	Asthma	HP:0040283	ORPHA:586
6550	SLC9A3	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
6550	SLC9A3	HP:0034470	Elevated stool chloride content	7/7	OMIM:616868
6550	SLC9A3	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
6550	SLC9A3	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
6550	SLC9A3	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
6550	SLC9A3	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
6550	SLC9A3	HP:0032024	Ileal ulcer	1/7	OMIM:616868
6550	SLC9A3	HP:0030674	Antenatal onset	7/7	OMIM:616868
6550	SLC9A3	HP:0000739	Anxiety	HP:0040283	ORPHA:586
6550	SLC9A3	HP:0000716	Depression	HP:0040283	ORPHA:586
6550	SLC9A3	HP:0011473	Villous atrophy	1/5	OMIM:616868
6550	SLC9A3	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
6550	SLC9A3	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
6550	SLC9A3	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
6550	SLC9A3	HP:0003270	Abdominal distention	7/7	OMIM:616868
6550	SLC9A3	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
6550	SLC9A3	HP:0003251	Male infertility	HP:0040282	ORPHA:586
6550	SLC9A3	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
6550	SLC9A3	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
6550	SLC9A3	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
6550	SLC9A3	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
6550	SLC9A3	HP:0001561	Polyhydramnios	7/7	OMIM:616868
6550	SLC9A3	HP:0033994	Dependency on parenteral nutrition	6/7	OMIM:616868
6550	SLC9A3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
6550	SLC9A3	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
6550	SLC9A3	HP:0005208	Secretory diarrhea	7/7	OMIM:616868
6550	SLC9A3	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
6550	SLC9A3	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
6550	SLC9A3	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
6550	SLC9A3	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
6550	SLC9A3	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
6554	SLC10A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619256
6554	SLC10A1	HP:0100512	Decreased circulating vitamin D concentration	8/8	OMIM:619256
6554	SLC10A1	HP:0008282	Unconjugated hyperbilirubinemia	0/2	OMIM:619256
6554	SLC10A1	HP:0003623	Neonatal onset	2/2	OMIM:619256
6554	SLC10A1	HP:0000938	Osteopenia	3/8	OMIM:619256
6554	SLC10A1	HP:0012202	Increased serum bile acid concentration	10/10	OMIM:619256
6554	SLC10A1	HP:0006579	Prolonged neonatal jaundice	2/2	OMIM:619256
6555	SLC10A2	HP:0002570	Steatorrhea	1/1	OMIM:613291
6555	SLC10A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613291
6555	SLC10A2	HP:0002630	Fat malabsorption	1/1	OMIM:613291
6555	SLC10A2	HP:0002028	Chronic diarrhea	1/1	OMIM:613291
6555	SLC10A2	HP:0003623	Neonatal onset	1/1	OMIM:613291
6555	SLC10A2	HP:0034043	Increased fecal bile acid	1/1	OMIM:613291
6555	SLC10A2	HP:0001508	Failure to thrive	-	OMIM:613291
6555	SLC10A2	HP:0001510	Growth delay	-	OMIM:613291
6556	SLC11A1	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
6556	SLC11A1	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
6556	SLC11A1	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
6556	SLC11A1	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
6556	SLC11A1	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
6556	SLC11A1	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
6556	SLC11A1	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
6556	SLC11A1	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
6556	SLC11A1	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
6556	SLC11A1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
6556	SLC11A1	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
6556	SLC11A1	HP:0002099	Asthma	HP:0040283	ORPHA:586
6556	SLC11A1	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
6556	SLC11A1	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
6556	SLC11A1	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
6556	SLC11A1	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
6556	SLC11A1	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
6556	SLC11A1	HP:0000739	Anxiety	HP:0040283	ORPHA:586
6556	SLC11A1	HP:0000716	Depression	HP:0040283	ORPHA:586
6556	SLC11A1	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
6556	SLC11A1	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
6556	SLC11A1	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
6556	SLC11A1	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
6556	SLC11A1	HP:0003251	Male infertility	HP:0040282	ORPHA:586
6556	SLC11A1	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
6556	SLC11A1	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
6556	SLC11A1	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
6556	SLC11A1	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
6556	SLC11A1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
6556	SLC11A1	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
6556	SLC11A1	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
6556	SLC11A1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
6556	SLC11A1	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
6556	SLC11A1	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
6556	SLC11A1	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
6557	SLC12A1	HP:0001281	Tetany	-	OMIM:601678
6557	SLC12A1	HP:0001250	Seizure	-	OMIM:601678
6557	SLC12A1	HP:0001249	Intellectual disability	-	OMIM:601678
6557	SLC12A1	HP:0001263	Global developmental delay	-	OMIM:601678
6557	SLC12A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:601678
6557	SLC12A1	HP:0002632	Low-to-normal blood pressure	-	OMIM:601678
6557	SLC12A1	HP:0000121	Nephrocalcinosis	4/5	OMIM:601678
6557	SLC12A1	HP:0000128	Renal potassium wasting	-	OMIM:601678
6557	SLC12A1	HP:0000127	Renal salt wasting	-	OMIM:601678
6557	SLC12A1	HP:0000111	Renal juxtaglomerular cell hypertrophy/hyperplasia	-	OMIM:601678
6557	SLC12A1	HP:0000103	Polyuria	-	OMIM:601678
6557	SLC12A1	HP:0002019	Constipation	-	OMIM:601678
6557	SLC12A1	HP:0002014	Diarrhea	-	OMIM:601678
6557	SLC12A1	HP:0002013	Vomiting	-	OMIM:601678
6557	SLC12A1	HP:0003324	Generalized muscle weakness	-	OMIM:601678
6557	SLC12A1	HP:0003394	Muscle spasm	-	OMIM:601678
6557	SLC12A1	HP:0002150	Hypercalciuria	5/5	OMIM:601678
6557	SLC12A1	HP:0003401	Paresthesia	-	OMIM:601678
6557	SLC12A1	HP:0003566	Increased serum prostaglandin E2	-	OMIM:601678
6557	SLC12A1	HP:0003527	Hyperprostaglandinuria	-	OMIM:601678
6557	SLC12A1	HP:0001944	Dehydration	5/5	OMIM:601678
6557	SLC12A1	HP:0001945	Fever	-	OMIM:601678
6557	SLC12A1	HP:0001960	Hypokalemic metabolic alkalosis	-	OMIM:601678
6557	SLC12A1	HP:0004322	Short stature	-	OMIM:601678
6557	SLC12A1	HP:0003072	Hypercalcemia	-	OMIM:601678
6557	SLC12A1	HP:0003081	Increased urinary potassium	-	OMIM:601678
6557	SLC12A1	HP:0011461	Fetal onset	5/5	OMIM:601678
6557	SLC12A1	HP:0003113	Hypochloremia	-	OMIM:601678
6557	SLC12A1	HP:0003158	Hyposthenuria	-	OMIM:601678
6557	SLC12A1	HP:0000859	Increased circulating aldosterone concentration	5/5	OMIM:601678
6557	SLC12A1	HP:0000848	Increased circulating renin concentration	-	OMIM:601678
6557	SLC12A1	HP:0000843	Hyperparathyroidism	HP:0040283	OMIM:601678
6557	SLC12A1	HP:0000841	Hyperactive renin-angiotensin system	5/5	OMIM:601678
6557	SLC12A1	HP:0000938	Osteopenia	-	OMIM:601678
6557	SLC12A1	HP:0000934	Chondrocalcinosis	-	OMIM:601678
6557	SLC12A1	HP:0001561	Polyhydramnios	5/5	OMIM:601678
6557	SLC12A1	HP:0001563	Fetal polyuria	-	OMIM:601678
6557	SLC12A1	HP:0001508	Failure to thrive	-	OMIM:601678
6557	SLC12A1	HP:0001518	Small for gestational age	5/5	OMIM:601678
6557	SLC12A1	HP:0002917	Hypomagnesemia	0/5	OMIM:601678
6557	SLC12A1	HP:0002914	Hyperchloriduria	-	OMIM:601678
6557	SLC12A1	HP:0002900	Hypokalemia	5/5	OMIM:601678
6557	SLC12A1	HP:0001622	Premature birth	5/5	OMIM:601678
6558	SLC12A2	HP:0008619	Bilateral sensorineural hearing impairment	2/6	OMIM:619083
6558	SLC12A2	HP:0008619	Bilateral sensorineural hearing impairment	1/1	OMIM:619080
6558	SLC12A2	HP:0010864	Intellectual disability, severe	1/1	OMIM:619080
6558	SLC12A2	HP:0001290	Generalized hypotonia	-	OMIM:619083
6558	SLC12A2	HP:0001290	Generalized hypotonia	1/1	OMIM:619080
6558	SLC12A2	HP:0001276	Hypertonia	-	OMIM:619083
6558	SLC12A2	HP:0001274	Agenesis of corpus callosum	-	OMIM:619083
6558	SLC12A2	HP:0001270	Motor delay	2/8	OMIM:619081
6558	SLC12A2	HP:0001263	Global developmental delay	6/6	OMIM:619083
6558	SLC12A2	HP:0001263	Global developmental delay	0/8	OMIM:619081
6558	SLC12A2	HP:0001257	Spasticity	-	OMIM:619083
6558	SLC12A2	HP:0002575	Tracheoesophageal fistula	1/6	OMIM:619083
6558	SLC12A2	HP:0002566	Intestinal malrotation	1/1	OMIM:619080
6558	SLC12A2	HP:0002539	Cortical dysplasia	-	OMIM:619083
6558	SLC12A2	HP:0500239	Increased CSF albumin concentration	1/1	OMIM:619080
6558	SLC12A2	HP:0001347	Hyperreflexia	1/1	OMIM:619080
6558	SLC12A2	HP:0001344	Absent speech	-	OMIM:619083
6558	SLC12A2	HP:0001344	Absent speech	1/1	OMIM:619080
6558	SLC12A2	HP:0002673	Coxa valga	1/1	OMIM:619080
6558	SLC12A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619080
6558	SLC12A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619083
6558	SLC12A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619081
6558	SLC12A2	HP:0000154	Wide mouth	1/1	OMIM:619080
6558	SLC12A2	HP:0002020	Gastroesophageal reflux	1/1	OMIM:619080
6558	SLC12A2	HP:0004691	2-3 toe syndactyly	1/1	OMIM:619080
6558	SLC12A2	HP:0002015	Dysphagia	-	OMIM:619083
6558	SLC12A2	HP:0011822	Broad chin	1/1	OMIM:619080
6558	SLC12A2	HP:0003577	Congenital onset	1/1	OMIM:619080
6558	SLC12A2	HP:0003577	Congenital onset	8/8	OMIM:619081
6558	SLC12A2	HP:0100753	Schizophrenia	0/8	OMIM:619081
6558	SLC12A2	HP:0011968	Feeding difficulties	2/2	OMIM:619080
6558	SLC12A2	HP:0000685	Hypoplasia of teeth	1/1	OMIM:619080
6558	SLC12A2	HP:0031936	Delayed ability to walk	-	OMIM:619083
6558	SLC12A2	HP:0012736	Profound global developmental delay	1/1	OMIM:619080
6558	SLC12A2	HP:0000768	Pectus carinatum	1/1	OMIM:619080
6558	SLC12A2	HP:0000750	Delayed speech and language development	-	OMIM:619083
6558	SLC12A2	HP:0000729	Autistic behavior	3/6	OMIM:619083
6558	SLC12A2	HP:0011476	Profound sensorineural hearing impairment	8/8	OMIM:619081
6558	SLC12A2	HP:0000256	Macrocephaly	0/8	OMIM:619081
6558	SLC12A2	HP:0002827	Hip dislocation	-	OMIM:619083
6558	SLC12A2	HP:0000217	Xerostomia	1/1	OMIM:619080
6558	SLC12A2	HP:0005211	Midgut malrotation	1/1	OMIM:619080
6558	SLC12A2	HP:0000369	Low-set ears	1/1	OMIM:619080
6558	SLC12A2	HP:0000341	Narrow forehead	2/2	OMIM:619080
6558	SLC12A2	HP:0001629	Ventricular septal defect	1/6	OMIM:619083
6558	SLC12A2	HP:0000303	Mandibular prognathia	2/2	OMIM:619080
6558	SLC12A2	HP:0000402	Stenosis of the external auditory canal	1/1	OMIM:619080
6558	SLC12A2	HP:0012450	Chronic constipation	1/1	OMIM:619080
6558	SLC12A2	HP:0000453	Choanal atresia	1/1	OMIM:619080
6558	SLC12A2	HP:0000522	Alacrima	2/2	OMIM:619080
6559	SLC12A3	HP:0001281	Tetany	-	OMIM:263800
6559	SLC12A3	HP:0001279	Syncope	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0001250	Seizure	HP:0040284	OMIM:263800
6559	SLC12A3	HP:0001251	Ataxia	-	OMIM:263800
6559	SLC12A3	HP:0001262	Excessive daytime somnolence	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0002514	Cerebral calcification	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0000097	Focal segmental glomerulosclerosis	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0000093	Proteinuria	HP:0040283	ORPHA:358
6559	SLC12A3	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0000017	Nocturia	-	OMIM:263800
6559	SLC12A3	HP:0000017	Nocturia	HP:0040283	ORPHA:358
6559	SLC12A3	HP:0001324	Muscle weakness	HP:0040282	ORPHA:358
6559	SLC12A3	HP:0001324	Muscle weakness	-	OMIM:263800
6559	SLC12A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:263800
6559	SLC12A3	HP:0002632	Low-to-normal blood pressure	HP:0040282	ORPHA:358
6559	SLC12A3	HP:0002619	Varicose veins	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0002615	Hypotension	-	OMIM:263800
6559	SLC12A3	HP:0000128	Renal potassium wasting	-	OMIM:263800
6559	SLC12A3	HP:0000128	Renal potassium wasting	HP:0040283	ORPHA:358
6559	SLC12A3	HP:0000103	Polyuria	-	OMIM:263800
6559	SLC12A3	HP:0002019	Constipation	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0002019	Constipation	-	OMIM:263800
6559	SLC12A3	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:358
6559	SLC12A3	HP:0002027	Abdominal pain	HP:0040282	ORPHA:358
6559	SLC12A3	HP:0002027	Abdominal pain	HP:0040283	OMIM:263800
6559	SLC12A3	HP:0003326	Myalgia	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0002014	Diarrhea	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0002013	Vomiting	-	OMIM:263800
6559	SLC12A3	HP:0003324	Generalized muscle weakness	-	OMIM:263800
6559	SLC12A3	HP:0005978	Type II diabetes mellitus	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0002098	Respiratory distress	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0003394	Muscle spasm	-	OMIM:263800
6559	SLC12A3	HP:0003394	Muscle spasm	HP:0040283	ORPHA:358
6559	SLC12A3	HP:0011736	Primary hyperaldosteronism	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0003470	Paralysis	HP:0040284	OMIM:263800
6559	SLC12A3	HP:0003470	Paralysis	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0004756	Ventricular tachycardia	HP:0040284	OMIM:263800
6559	SLC12A3	HP:0003401	Paresthesia	-	OMIM:263800
6559	SLC12A3	HP:0003401	Paresthesia	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0200114	Metabolic alkalosis	HP:0040283	ORPHA:358
6559	SLC12A3	HP:0100785	Insomnia	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0002321	Vertigo	-	OMIM:263800
6559	SLC12A3	HP:0002321	Vertigo	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0002315	Headache	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0100651	Type I diabetes mellitus	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0100647	Graves disease	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0025072	Prominent U wave	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0009800	Maternal diabetes	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0003621	Juvenile onset	-	OMIM:263800
6559	SLC12A3	HP:0005567	Renal magnesium wasting	-	OMIM:263800
6559	SLC12A3	HP:0001970	Tubulointerstitial nephritis	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0001962	Palpitations	-	OMIM:263800
6559	SLC12A3	HP:0001962	Palpitations	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0001947	Renal tubular acidosis	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0001949	Hypokalemic alkalosis	-	OMIM:263800
6559	SLC12A3	HP:0001959	Polydipsia	-	OMIM:263800
6559	SLC12A3	HP:0001959	Polydipsia	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0001954	Recurrent fever	-	OMIM:263800
6559	SLC12A3	HP:0000622	Blurred vision	HP:0040284	OMIM:263800
6559	SLC12A3	HP:0000622	Blurred vision	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0001953	Diabetic ketoacidosis	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0001952	Glucose intolerance	HP:0040283	ORPHA:358
6559	SLC12A3	HP:0001994	Renal Fanconi syndrome	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0001997	Gout	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0000805	Enuresis	-	OMIM:263800
6559	SLC12A3	HP:0000805	Enuresis	HP:0040283	ORPHA:358
6559	SLC12A3	HP:0003127	Hypocalciuria	-	OMIM:263800
6559	SLC12A3	HP:0000872	Hashimoto thyroiditis	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0000855	Insulin resistance	HP:0040283	ORPHA:358
6559	SLC12A3	HP:0100324	Scleroderma	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0000848	Increased circulating renin concentration	-	OMIM:263800
6559	SLC12A3	HP:0000823	Delayed puberty	-	OMIM:263800
6559	SLC12A3	HP:0000823	Delayed puberty	HP:0040283	ORPHA:358
6559	SLC12A3	HP:0030880	Raynaud phenomenon	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0003201	Rhabdomyolysis	HP:0040284	OMIM:263800
6559	SLC12A3	HP:0003201	Rhabdomyolysis	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0000975	Hyperhidrosis	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0000934	Chondrocalcinosis	-	OMIM:263800
6559	SLC12A3	HP:0000934	Chondrocalcinosis	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0012248	Prolonged PR interval	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0012250	ST segment depression	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0005135	Abnormal T-wave	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0002829	Arthralgia	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0002829	Arthralgia	-	OMIM:263800
6559	SLC12A3	HP:0030083	Salt craving	-	OMIM:263800
6559	SLC12A3	HP:0030083	Salt craving	HP:0040283	ORPHA:358
6559	SLC12A3	HP:0002897	Parathyroid adenoma	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0002894	Neoplasm of the pancreas	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:358
6559	SLC12A3	HP:0001508	Failure to thrive	HP:0040284	OMIM:263800
6559	SLC12A3	HP:0001510	Growth delay	-	OMIM:263800
6559	SLC12A3	HP:0012378	Fatigue	-	OMIM:263800
6559	SLC12A3	HP:0012364	Decreased urinary potassium	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0002917	Hypomagnesemia	-	OMIM:263800
6559	SLC12A3	HP:0002917	Hypomagnesemia	HP:0040282	ORPHA:358
6559	SLC12A3	HP:0002918	Hypermagnesemia	HP:0040283	ORPHA:358
6559	SLC12A3	HP:0002900	Hypokalemia	-	OMIM:263800
6559	SLC12A3	HP:0002900	Hypokalemia	HP:0040281	ORPHA:358
6559	SLC12A3	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:358
6559	SLC12A3	HP:0000360	Tinnitus	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0001698	Pericardial effusion	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0001663	Ventricular fibrillation	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0001657	Prolonged QT interval	-	OMIM:263800
6559	SLC12A3	HP:0001657	Prolonged QT interval	HP:0040282	ORPHA:358
6559	SLC12A3	HP:0006789	Mitochondrial encephalopathy	HP:0040284	ORPHA:358
6559	SLC12A3	HP:0001891	Iron deficiency anemia	HP:0040284	ORPHA:358
6566	SLC16A1	HP:0003710	Exercise-induced muscle cramps	-	OMIM:245340
6566	SLC16A1	HP:0001249	Intellectual disability	3/9	OMIM:616095
6566	SLC16A1	HP:0001263	Global developmental delay	-	OMIM:616095
6566	SLC16A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616095
6566	SLC16A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:610021
6566	SLC16A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:245340
6566	SLC16A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616095
6566	SLC16A1	HP:0008967	Exercise-induced muscle stiffness	-	OMIM:245340
6566	SLC16A1	HP:0003457	EMG abnormality	0/5	OMIM:245340
6566	SLC16A1	HP:0002173	Hypoglycemic seizures	-	OMIM:610021
6566	SLC16A1	HP:0003593	Infantile onset	1/9	OMIM:616095
6566	SLC16A1	HP:0011968	Feeding difficulties	-	OMIM:616095
6566	SLC16A1	HP:0003621	Juvenile onset	1/9	OMIM:616095
6566	SLC16A1	HP:0001943	Hypoglycemia	-	OMIM:610021
6566	SLC16A1	HP:0009020	Exercise-induced muscle fatigue	-	OMIM:245340
6566	SLC16A1	HP:0001993	Ketoacidosis	9/9	OMIM:616095
6566	SLC16A1	HP:0012734	Ketotic hypoglycemia	-	OMIM:616095
6566	SLC16A1	HP:0011463	Childhood onset	7/9	OMIM:616095
6566	SLC16A1	HP:0000842	Hyperinsulinemia	-	OMIM:610021
6566	SLC16A1	HP:0000825	Hyperinsulinemic hypoglycemia	-	OMIM:610021
6566	SLC16A1	HP:0003236	Elevated circulating creatine kinase concentration	5/5	OMIM:245340
6566	SLC16A1	HP:0004510	Pancreatic islet-cell hyperplasia	-	OMIM:610021
6566	SLC16A1	HP:0002919	Ketonuria	6/9	OMIM:616095
6567	SLC16A2	HP:0008583	Underfolded superior helices	-	OMIM:300523
6567	SLC16A2	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0010864	Intellectual disability, severe	-	OMIM:300523
6567	SLC16A2	HP:0002421	Poor head control	HP:0040283	ORPHA:59
6567	SLC16A2	HP:0002415	Leukodystrophy	-	OMIM:300523
6567	SLC16A2	HP:0003700	Generalized amyotrophy	-	OMIM:300523
6567	SLC16A2	HP:0001250	Seizure	HP:0040283	ORPHA:59
6567	SLC16A2	HP:0001251	Ataxia	-	OMIM:300523
6567	SLC16A2	HP:0001251	Ataxia	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:59
6567	SLC16A2	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0001260	Dysarthria	-	OMIM:300523
6567	SLC16A2	HP:0001258	Spastic paraplegia	-	OMIM:300523
6567	SLC16A2	HP:0001257	Spasticity	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0002540	Inability to walk	-	OMIM:300523
6567	SLC16A2	HP:0002510	Spastic tetraplegia	-	OMIM:300523
6567	SLC16A2	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:59
6567	SLC16A2	HP:0002509	Limb hypertonia	HP:0040283	ORPHA:59
6567	SLC16A2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:59
6567	SLC16A2	HP:0001371	Flexion contracture	-	OMIM:300523
6567	SLC16A2	HP:0001348	Brisk reflexes	HP:0040283	ORPHA:59
6567	SLC16A2	HP:0001347	Hyperreflexia	-	OMIM:300523
6567	SLC16A2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:59
6567	SLC16A2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0008872	Feeding difficulties in infancy	-	OMIM:300523
6567	SLC16A2	HP:0001332	Dystonia	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0002650	Scoliosis	-	OMIM:300523
6567	SLC16A2	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:59
6567	SLC16A2	HP:0001319	Neonatal hypotonia	-	OMIM:300523
6567	SLC16A2	HP:0008936	Axial hypotonia	HP:0040281	ORPHA:59
6567	SLC16A2	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0001419	X-linked recessive inheritance	-	OMIM:300523
6567	SLC16A2	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:59
6567	SLC16A2	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:59
6567	SLC16A2	HP:0002058	Myopathic facies	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0011788	Increased circulating free T3	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0003487	Babinski sign	-	OMIM:300523
6567	SLC16A2	HP:0003487	Babinski sign	HP:0040283	ORPHA:59
6567	SLC16A2	HP:0002188	Delayed CNS myelination	-	OMIM:300523
6567	SLC16A2	HP:0002169	Clonus	-	OMIM:300523
6567	SLC16A2	HP:0003577	Congenital onset	-	OMIM:300523
6567	SLC16A2	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0002375	Hypokinesia	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:59
6567	SLC16A2	HP:0100660	Dyskinesia	HP:0040284	ORPHA:59
6567	SLC16A2	HP:0002307	Drooling	-	OMIM:300523
6567	SLC16A2	HP:0002305	Athetosis	-	OMIM:300523
6567	SLC16A2	HP:0006887	Intellectual disability, progressive	-	OMIM:300523
6567	SLC16A2	HP:0000639	Nystagmus	HP:0040283	ORPHA:59
6567	SLC16A2	HP:0011344	Severe global developmental delay	-	OMIM:300523
6567	SLC16A2	HP:0004322	Short stature	HP:0040283	ORPHA:59
6567	SLC16A2	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0100015	Stahl ear	-	OMIM:300523
6567	SLC16A2	HP:0000767	Pectus excavatum	-	OMIM:300523
6567	SLC16A2	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0000737	Irritability	-	OMIM:300523
6567	SLC16A2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0011448	Ankle clonus	HP:0040283	ORPHA:59
6567	SLC16A2	HP:0004488	Macrocephaly at birth	HP:0040284	ORPHA:59
6567	SLC16A2	HP:0000822	Hypertension	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0000821	Hypothyroidism	-	OMIM:300523
6567	SLC16A2	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0045082	Decreased body mass index	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0008081	Pes valgus	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0000275	Narrow face	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0000276	Long face	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0001583	Rotary nystagmus	HP:0040283	OMIM:300523
6567	SLC16A2	HP:0000252	Microcephaly	HP:0040283	ORPHA:59
6567	SLC16A2	HP:0000252	Microcephaly	-	OMIM:300523
6567	SLC16A2	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:59
6567	SLC16A2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:59
6567	SLC16A2	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0001518	Small for gestational age	HP:0040284	ORPHA:59
6567	SLC16A2	HP:0000395	Prominent antihelix	-	OMIM:300523
6567	SLC16A2	HP:0006579	Prolonged neonatal jaundice	HP:0040283	ORPHA:59
6567	SLC16A2	HP:0002926	Abnormality of thyroid physiology	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	-	OMIM:300523
6567	SLC16A2	HP:0000341	Narrow forehead	-	OMIM:300523
6567	SLC16A2	HP:0001649	Tachycardia	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0001622	Premature birth	HP:0040284	ORPHA:59
6567	SLC16A2	HP:0000400	Macrotia	-	OMIM:300523
6567	SLC16A2	HP:0012448	Delayed myelination	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0012444	Brain atrophy	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0001763	Pes planus	HP:0040282	ORPHA:59
6567	SLC16A2	HP:0001763	Pes planus	-	OMIM:300523
6567	SLC16A2	HP:0001822	Hallux valgus	-	OMIM:300523
6567	SLC16A2	HP:0000549	Abnormal conjugate eye movement	-	OMIM:300523
6569	SLC34A1	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:3337
6569	SLC34A1	HP:0001252	Hypotonia	4/15	OMIM:616963
6569	SLC34A1	HP:0002515	Waddling gait	HP:0040283	ORPHA:157215
6569	SLC34A1	HP:0000083	Renal insufficiency	2/2	OMIM:613388
6569	SLC34A1	HP:0000093	Proteinuria	2/2	OMIM:613388
6569	SLC34A1	HP:0002659	Increased susceptibility to fractures	-	OMIM:612286
6569	SLC34A1	HP:0002659	Increased susceptibility to fractures	HP:0040282	ORPHA:3337
6569	SLC34A1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:3337
6569	SLC34A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613388
6569	SLC34A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616963
6569	SLC34A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:612286
6569	SLC34A1	HP:0002653	Bone pain	2/2	OMIM:613388
6569	SLC34A1	HP:0002653	Bone pain	HP:0040282	ORPHA:3337
6569	SLC34A1	HP:0002653	Bone pain	HP:0040282	ORPHA:157215
6569	SLC34A1	HP:0000121	Nephrocalcinosis	15/15	OMIM:616963
6569	SLC34A1	HP:0000117	Renal phosphate wasting	-	OMIM:616963
6569	SLC34A1	HP:0000117	Renal phosphate wasting	-	OMIM:612286
6569	SLC34A1	HP:0000117	Renal phosphate wasting	2/2	OMIM:613388
6569	SLC34A1	HP:0000117	Renal phosphate wasting	HP:0040281	ORPHA:3337
6569	SLC34A1	HP:0000114	Proximal tubulopathy	2/2	OMIM:613388
6569	SLC34A1	HP:0002757	Recurrent fractures	2/2	OMIM:613388
6569	SLC34A1	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:157215
6569	SLC34A1	HP:0000103	Polyuria	11/14	OMIM:616963
6569	SLC34A1	HP:0002748	Rickets	2/2	OMIM:613388
6569	SLC34A1	HP:0002749	Osteomalacia	HP:0040282	ORPHA:157215
6569	SLC34A1	HP:0002749	Osteomalacia	2/2	OMIM:613388
6569	SLC34A1	HP:0002749	Osteomalacia	HP:0040282	ORPHA:3337
6569	SLC34A1	HP:0002049	Proximal renal tubular acidosis	HP:0040281	ORPHA:3337
6569	SLC34A1	HP:0002150	Hypercalciuria	12/15	OMIM:616963
6569	SLC34A1	HP:0002150	Hypercalciuria	-	OMIM:612286
6569	SLC34A1	HP:0002150	Hypercalciuria	2/2	OMIM:613388
6569	SLC34A1	HP:0002150	Hypercalciuria	HP:0040283	ORPHA:3337
6569	SLC34A1	HP:0002150	Hypercalciuria	HP:0040281	ORPHA:157215
6569	SLC34A1	HP:0002148	Hypophosphatemia	-	OMIM:616963
6569	SLC34A1	HP:0002148	Hypophosphatemia	-	OMIM:612286
6569	SLC34A1	HP:0002148	Hypophosphatemia	2/2	OMIM:613388
6569	SLC34A1	HP:0002148	Hypophosphatemia	HP:0040282	ORPHA:3337
6569	SLC34A1	HP:0002148	Hypophosphatemia	HP:0040281	ORPHA:157215
6569	SLC34A1	HP:0003537	Hypouricemia	HP:0040282	ORPHA:3337
6569	SLC34A1	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:3337
6569	SLC34A1	HP:0010639	Elevated alkaline phosphatase of bone origin	HP:0040281	ORPHA:157215
6569	SLC34A1	HP:0003646	Bicarbonaturia	HP:0040281	ORPHA:3337
6569	SLC34A1	HP:0004918	Hyperchloremic metabolic acidosis	HP:0040281	ORPHA:3337
6569	SLC34A1	HP:0004912	Hypophosphatemic rickets	HP:0040281	ORPHA:157215
6569	SLC34A1	HP:0004912	Hypophosphatemic rickets	HP:0040282	ORPHA:3337
6569	SLC34A1	HP:0004910	Bicarbonate-wasting renal tubular acidosis	HP:0040281	ORPHA:3337
6569	SLC34A1	HP:0031817	Decreased circulating parathyroid hormone level	HP:0040281	ORPHA:157215
6569	SLC34A1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:3337
6569	SLC34A1	HP:0012606	Renal sodium wasting	HP:0040282	ORPHA:3337
6569	SLC34A1	HP:0001944	Dehydration	HP:0040283	ORPHA:3337
6569	SLC34A1	HP:0001943	Hypoglycemia	HP:0040284	ORPHA:3337
6569	SLC34A1	HP:0004322	Short stature	2/2	OMIM:613388
6569	SLC34A1	HP:0004322	Short stature	HP:0040283	ORPHA:157215
6569	SLC34A1	HP:0003076	Glycosuria	2/2	OMIM:613388
6569	SLC34A1	HP:0003076	Glycosuria	HP:0040281	ORPHA:3337
6569	SLC34A1	HP:0003072	Hypercalcemia	-	OMIM:616963
6569	SLC34A1	HP:0003081	Increased urinary potassium	HP:0040282	ORPHA:3337
6569	SLC34A1	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:157215
6569	SLC34A1	HP:0011463	Childhood onset	2/2	OMIM:613388
6569	SLC34A1	HP:0000787	Nephrolithiasis	-	OMIM:612286
6569	SLC34A1	HP:0000787	Nephrolithiasis	HP:0040282	ORPHA:157215
6569	SLC34A1	HP:0003109	Hyperphosphaturia	HP:0040281	ORPHA:157215
6569	SLC34A1	HP:0003109	Hyperphosphaturia	-	OMIM:612286
6569	SLC34A1	HP:0003126	Low-molecular-weight proteinuria	HP:0040281	ORPHA:3337
6569	SLC34A1	HP:0000924	Abnormality of the skeletal system	HP:0040282	ORPHA:157215
6569	SLC34A1	HP:0003149	Hyperuricosuria	HP:0040281	ORPHA:3337
6569	SLC34A1	HP:0003165	Elevated circulating parathyroid hormone level	0/2	OMIM:613388
6569	SLC34A1	HP:0000897	Rachitic rosary	HP:0040283	ORPHA:157215
6569	SLC34A1	HP:0003234	Decreased circulating carnitine concentration	HP:0040282	ORPHA:3337
6569	SLC34A1	HP:0000939	Osteoporosis	-	OMIM:612286
6569	SLC34A1	HP:0000938	Osteopenia	-	OMIM:612286
6569	SLC34A1	HP:0000938	Osteopenia	2/2	OMIM:613388
6569	SLC34A1	HP:0031415	High serum calcitriol	2/2	OMIM:613388
6569	SLC34A1	HP:0031415	High serum calcitriol	HP:0040281	ORPHA:157215
6569	SLC34A1	HP:0012213	Decreased glomerular filtration rate	2/2	OMIM:613388
6569	SLC34A1	HP:0001508	Failure to thrive	11/15	OMIM:616963
6569	SLC34A1	HP:0001510	Growth delay	HP:0040282	ORPHA:157215
6569	SLC34A1	HP:0001510	Growth delay	HP:0040281	ORPHA:3337
6569	SLC34A1	HP:0002909	Generalized aminoaciduria	2/2	OMIM:613388
6569	SLC34A1	HP:0002909	Generalized aminoaciduria	HP:0040281	ORPHA:3337
6569	SLC34A1	HP:0002900	Hypokalemia	HP:0040282	ORPHA:3337
6569	SLC34A1	HP:0031428	Increased circulating osteocalcin level	HP:0040281	ORPHA:157215
6569	SLC34A1	HP:0031425	Increased circulating beta-C-terminal telopeptide concentration	HP:0040281	ORPHA:157215
6569	SLC34A1	HP:0002979	Bowing of the legs	HP:0040283	ORPHA:157215
6569	SLC34A1	HP:0032943	Abnormal urine pH	HP:0040281	ORPHA:3337
6569	SLC34A1	HP:0012408	Medullary nephrocalcinosis	HP:0040282	ORPHA:157215
6569	SLC34A1	HP:0012408	Medullary nephrocalcinosis	-	OMIM:616963
6569	SLC34A1	HP:0001824	Weight loss	HP:0040282	ORPHA:3337
6571	SLC18A2	HP:0002451	Limb dystonia	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0002421	Poor head control	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0002421	Poor head control	1/1	OMIM:618049
6571	SLC18A2	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0001276	Hypertonia	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0001285	Spastic tetraparesis	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0001256	Intellectual disability, mild	1/1	OMIM:618049
6571	SLC18A2	HP:0001252	Hypotonia	1/1	OMIM:618049
6571	SLC18A2	HP:0001251	Ataxia	1/1	OMIM:618049
6571	SLC18A2	HP:0001251	Ataxia	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0002597	Abnormality of the vasculature	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0001260	Dysarthria	1/1	OMIM:618049
6571	SLC18A2	HP:0001260	Dysarthria	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0001263	Global developmental delay	1/1	OMIM:618049
6571	SLC18A2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:6000751	Decreased urinary dopamine level	-	OMIM:618049
6571	SLC18A2	HP:6000756	Elevated urinary 5-hydroxyindoleacetic acid level	1/1	OMIM:618049
6571	SLC18A2	HP:0025336	Delayed ability to sit	1/1	OMIM:618049
6571	SLC18A2	HP:0001347	Hyperreflexia	1/1	OMIM:618049
6571	SLC18A2	HP:0001332	Dystonia	1/1	OMIM:618049
6571	SLC18A2	HP:0001332	Dystonia	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618049
6571	SLC18A2	HP:0001337	Tremor	1/1	OMIM:618049
6571	SLC18A2	HP:0001337	Tremor	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0001300	Parkinsonism	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0001300	Parkinsonism	1/1	OMIM:618049
6571	SLC18A2	HP:0008936	Axial hypotonia	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0008936	Axial hypotonia	1/1	OMIM:618049
6571	SLC18A2	HP:0025403	Stooped posture	1/1	OMIM:618049
6571	SLC18A2	HP:0005968	Temperature instability	1/1	OMIM:618049
6571	SLC18A2	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0002075	Dysdiadochokinesis	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0002075	Dysdiadochokinesis	1/1	OMIM:618049
6571	SLC18A2	HP:0010553	Oculogyric crisis	1/1	OMIM:618049
6571	SLC18A2	HP:0010553	Oculogyric crisis	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0003593	Infantile onset	1/1	OMIM:618049
6571	SLC18A2	HP:0011977	Elevated urinary homovanillic acid	1/1	OMIM:618049
6571	SLC18A2	HP:0002362	Shuffling gait	1/1	OMIM:618049
6571	SLC18A2	HP:0002362	Shuffling gait	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0002360	Sleep abnormality	1/1	OMIM:618049
6571	SLC18A2	HP:0002311	Incoordination	1/1	OMIM:618049
6571	SLC18A2	HP:0002310	Orofacial dyskinesia	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0031936	Delayed ability to walk	1/1	OMIM:618049
6571	SLC18A2	HP:0011443	Abnormality of coordination	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0010307	Stridor	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0000975	Hyperhidrosis	1/1	OMIM:618049
6571	SLC18A2	HP:0012378	Fatigue	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0012378	Fatigue	1/1	OMIM:618049
6571	SLC18A2	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0001611	Hypernasal speech	1/1	OMIM:618049
6571	SLC18A2	HP:0012332	Abnormal autonomic nervous system physiology	-	OMIM:618049
6571	SLC18A2	HP:0000338	Hypomimic face	1/1	OMIM:618049
6571	SLC18A2	HP:0000338	Hypomimic face	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0030215	Inappropriate crying	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0000496	Abnormality of eye movement	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0001760	Abnormal foot morphology	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0005484	Secondary microcephaly	HP:0040281	ORPHA:352649
6571	SLC18A2	HP:0000508	Ptosis	1/1	OMIM:618049
6571	SLC18A2	HP:0000508	Ptosis	HP:0040281	ORPHA:352649
6572	SLC18A3	HP:0002421	Poor head control	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:98914
6572	SLC18A3	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:994
6572	SLC18A3	HP:0001270	Motor delay	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0001288	Gait disturbance	-	OMIM:617239
6572	SLC18A3	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0001283	Bulbar palsy	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0001284	Areflexia	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0001250	Seizure	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0001252	Hypotonia	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0001252	Hypotonia	1/2	OMIM:617239
6572	SLC18A3	HP:0001251	Ataxia	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0001265	Hyporeflexia	HP:0040284	ORPHA:98914
6572	SLC18A3	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:994
6572	SLC18A3	HP:0002515	Waddling gait	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0001374	Congenital hip dislocation	HP:0040284	ORPHA:98914
6572	SLC18A3	HP:0001382	Joint hypermobility	HP:0040284	ORPHA:98914
6572	SLC18A3	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:994
6572	SLC18A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:617239
6572	SLC18A3	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:994
6572	SLC18A3	HP:0002650	Scoliosis	HP:0040282	ORPHA:994
6572	SLC18A3	HP:0000175	Cleft palate	HP:0040282	ORPHA:994
6572	SLC18A3	HP:0025401	Staring gaze	HP:0040284	ORPHA:98914
6572	SLC18A3	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0002020	Gastroesophageal reflux	HP:0040284	ORPHA:98914
6572	SLC18A3	HP:0002033	Poor suck	HP:0040281	ORPHA:98914
6572	SLC18A3	HP:0004661	Frontalis muscle weakness	HP:0040281	ORPHA:98914
6572	SLC18A3	HP:0003325	Limb-girdle muscle weakness	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0002015	Dysphagia	HP:0040281	ORPHA:98914
6572	SLC18A3	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0005943	Respiratory arrest	HP:0040284	ORPHA:98914
6572	SLC18A3	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:994
6572	SLC18A3	HP:0002093	Respiratory insufficiency	1/2	OMIM:617239
6572	SLC18A3	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:994
6572	SLC18A3	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0003388	Easy fatigability	1/2	OMIM:617239
6572	SLC18A3	HP:0010489	Absent palmar crease	HP:0040281	ORPHA:994
6572	SLC18A3	HP:0003473	Fatigable weakness	HP:0040281	ORPHA:98914
6572	SLC18A3	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0002104	Apnea	1/2	OMIM:617239
6572	SLC18A3	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:994
6572	SLC18A3	HP:0010536	Central sleep apnea	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0003593	Infantile onset	2/2	OMIM:617239
6572	SLC18A3	HP:0004885	Episodic respiratory distress	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0003546	Exercise intolerance	2/2	OMIM:617239
6572	SLC18A3	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0040281	ORPHA:98914
6572	SLC18A3	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0011968	Feeding difficulties	1/2	OMIM:617239
6572	SLC18A3	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:98914
6572	SLC18A3	HP:0002392	EEG with polyspike wave complexes	HP:0040284	ORPHA:98914
6572	SLC18A3	HP:0001059	Pterygium	HP:0040283	ORPHA:994
6572	SLC18A3	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0002375	Hypokinesia	HP:0040281	ORPHA:994
6572	SLC18A3	HP:0008443	Neuropathic spinal arthropathy	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0002304	Akinesia	HP:0040281	ORPHA:994
6572	SLC18A3	HP:0007178	Motor polyneuropathy	HP:0040284	ORPHA:98914
6572	SLC18A3	HP:0000639	Nystagmus	HP:0040284	ORPHA:98914
6572	SLC18A3	HP:0000651	Diplopia	HP:0040284	ORPHA:98914
6572	SLC18A3	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0000602	Ophthalmoplegia	2/2	OMIM:617239
6572	SLC18A3	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0001989	Fetal akinesia sequence	HP:0040281	ORPHA:994
6572	SLC18A3	HP:0000666	Horizontal nystagmus	1/2	OMIM:617239
6572	SLC18A3	HP:0000768	Pectus carinatum	HP:0040284	ORPHA:98914
6572	SLC18A3	HP:0011469	Nasal regurgitation	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0004401	Meconium ileus	1/2	OMIM:617239
6572	SLC18A3	HP:0012801	Narrow jaw	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0030890	Hyperintensity of cerebral white matter on MRI	1/2	OMIM:617239
6572	SLC18A3	HP:0030842	Choking episodes	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0010307	Stridor	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0100285	EMG: impaired neuromuscular transmission	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0000961	Cyanosis	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0000961	Cyanosis	1/2	OMIM:617239
6572	SLC18A3	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0000276	Long face	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0002828	Multiple joint contractures	HP:0040281	ORPHA:994
6572	SLC18A3	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:994
6572	SLC18A3	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0006380	Knee flexion contracture	1/2	OMIM:617239
6572	SLC18A3	HP:0002882	Sudden episodic apnea	HP:0040281	ORPHA:98914
6572	SLC18A3	HP:0000218	High palate	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:994
6572	SLC18A3	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:98914
6572	SLC18A3	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0002870	Obstructive sleep apnea	HP:0040284	ORPHA:98914
6572	SLC18A3	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:994
6572	SLC18A3	HP:0012378	Fatigue	-	OMIM:617239
6572	SLC18A3	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	-	ORPHA:98914
6572	SLC18A3	HP:0005245	Intestinal hypoplasia	HP:0040283	ORPHA:994
6572	SLC18A3	HP:0001618	Dysphonia	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0030197	Fatigable weakness of skeletal muscles	1/2	OMIM:617239
6572	SLC18A3	HP:0001612	Weak cry	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:98914
6572	SLC18A3	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:994
6572	SLC18A3	HP:0000369	Low-set ears	HP:0040284	ORPHA:98914
6572	SLC18A3	HP:0000347	Micrognathia	HP:0040281	ORPHA:994
6572	SLC18A3	HP:0000316	Hypertelorism	HP:0040282	ORPHA:994
6572	SLC18A3	HP:0000308	Microretrognathia	HP:0040284	ORPHA:98914
6572	SLC18A3	HP:0030319	Weakness of facial musculature	1/2	OMIM:617239
6572	SLC18A3	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:98914
6572	SLC18A3	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:994
6572	SLC18A3	HP:0000476	Cystic hygroma	HP:0040282	ORPHA:994
6572	SLC18A3	HP:0000467	Neck muscle weakness	HP:0040281	ORPHA:98914
6572	SLC18A3	HP:0001761	Pes cavus	HP:0040283	ORPHA:98914
6572	SLC18A3	HP:0000508	Ptosis	2/2	OMIM:617239
6572	SLC18A3	HP:0000508	Ptosis	HP:0040281	ORPHA:98914
6572	SLC18A3	HP:0000565	Esotropia	HP:0040284	ORPHA:98914
6573	SLC19A1	HP:0001272	Cerebellar atrophy	1/3	OMIM:620603
6573	SLC19A1	HP:0001250	Seizure	1/4	OMIM:620603
6573	SLC19A1	HP:0001263	Global developmental delay	3/4	OMIM:620603
6573	SLC19A1	HP:0002514	Cerebral calcification	1/2	OMIM:620603
6573	SLC19A1	HP:0008897	Postnatal growth retardation	1/2	OMIM:620603
6573	SLC19A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620603
6573	SLC19A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:601775
6573	SLC19A1	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:601775
6573	SLC19A1	HP:0500093	Food allergy	1/2	OMIM:620603
6573	SLC19A1	HP:0002783	Recurrent lower respiratory tract infections	4/4	OMIM:620603
6573	SLC19A1	HP:0031250	Lip fissure	2/2	OMIM:620603
6573	SLC19A1	HP:0002721	Immunodeficiency	4/4	OMIM:620603
6573	SLC19A1	HP:0002028	Chronic diarrhea	2/2	OMIM:620603
6573	SLC19A1	HP:0100502	Decreased circulating vitamin B12 concentration	1/1	OMIM:601775
6573	SLC19A1	HP:0002059	Cerebral atrophy	1/3	OMIM:620603
6573	SLC19A1	HP:0002155	Hypertriglyceridemia	1/1	OMIM:620603
6573	SLC19A1	HP:0011900	Hypofibrinogenemia	1/1	OMIM:620603
6573	SLC19A1	HP:0002188	Delayed CNS myelination	2/2	OMIM:620603
6573	SLC19A1	HP:0002160	Hyperhomocystinemia	1/1	OMIM:601775
6573	SLC19A1	HP:0003593	Infantile onset	3/4	OMIM:620603
6573	SLC19A1	HP:0002240	Hepatomegaly	1/3	OMIM:620603
6573	SLC19A1	HP:0004851	Folate-responsive megaloblastic anemia	1/1	OMIM:601775
6573	SLC19A1	HP:0004821	Hypersegmentation of neutrophil nuclei	1/1	OMIM:601775
6573	SLC19A1	HP:0004802	Episodic hemolytic anemia	1/1	OMIM:601775
6573	SLC19A1	HP:0001047	Atopic dermatitis	1/2	OMIM:620603
6573	SLC19A1	HP:0200042	Skin ulcer	2/4	OMIM:620603
6573	SLC19A1	HP:0032154	Aphthous ulcer	4/4	OMIM:620603
6573	SLC19A1	HP:0003623	Neonatal onset	1/2	OMIM:620603
6573	SLC19A1	HP:0003621	Juvenile onset	1/1	OMIM:601775
6573	SLC19A1	HP:0001980	Megaloblastic bone marrow	1/1	OMIM:620603
6573	SLC19A1	HP:0001981	Schistocytosis	1/1	OMIM:601775
6573	SLC19A1	HP:0001954	Recurrent fever	2/2	OMIM:620603
6573	SLC19A1	HP:0000670	Carious teeth	1/4	OMIM:620603
6573	SLC19A1	HP:0004315	Decreased circulating IgG concentration	3/3	OMIM:620603
6573	SLC19A1	HP:0040087	Abnormal blood folate concentration	0/2	OMIM:620603
6573	SLC19A1	HP:0003212	Increased circulating IgE concentration	1/2	OMIM:620603
6573	SLC19A1	HP:0003281	Increased circulating ferritin concentration	1/1	OMIM:601775
6573	SLC19A1	HP:0003281	Increased circulating ferritin concentration	1/1	OMIM:620603
6573	SLC19A1	HP:0002904	Hyperbilirubinemia	1/1	OMIM:601775
6573	SLC19A1	HP:0001744	Splenomegaly	1/3	OMIM:620603
6573	SLC19A1	HP:0031688	Erythroid dysplasia	1/1	OMIM:601775
6573	SLC19A1	HP:0001889	Megaloblastic anemia	2/2	OMIM:620603
6573	SLC19A1	HP:0001888	Decreased total lymphocyte count	2/2	OMIM:620603
6573	SLC19A1	HP:0001873	Thrombocytopenia	2/2	OMIM:620603
6575	SLC20A2	HP:0002461	Cerebellar dentate nucleus calcification	-	OMIM:213600
6575	SLC20A2	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:1980
6575	SLC20A2	HP:0007256	Abnormal pyramidal sign	HP:0040283	OMIM:213600
6575	SLC20A2	HP:0002406	Limb dysmetria	-	OMIM:213600
6575	SLC20A2	HP:0001268	Mental deterioration	-	OMIM:213600
6575	SLC20A2	HP:0001288	Gait disturbance	-	OMIM:213600
6575	SLC20A2	HP:0001250	Seizure	HP:0040282	ORPHA:1980
6575	SLC20A2	HP:0001250	Seizure	2/8	OMIM:213600
6575	SLC20A2	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:1980
6575	SLC20A2	HP:0001260	Dysarthria	1/8	OMIM:213600
6575	SLC20A2	HP:0001263	Global developmental delay	2/8	OMIM:213600
6575	SLC20A2	HP:0007352	Cerebellar calcifications	HP:0040283	ORPHA:1980
6575	SLC20A2	HP:0002504	Calcification of the small brain vessels	-	OMIM:213600
6575	SLC20A2	HP:0000020	Urinary incontinence	-	OMIM:213600
6575	SLC20A2	HP:0001350	Slurred speech	HP:0040283	ORPHA:1980
6575	SLC20A2	HP:0001347	Hyperreflexia	-	OMIM:213600
6575	SLC20A2	HP:0001332	Dystonia	HP:0040283	ORPHA:1980
6575	SLC20A2	HP:0001332	Dystonia	-	OMIM:213600
6575	SLC20A2	HP:0000012	Urinary urgency	HP:0040283	ORPHA:1980
6575	SLC20A2	HP:0001337	Tremor	HP:0040282	ORPHA:1980
6575	SLC20A2	HP:0001337	Tremor	-	OMIM:213600
6575	SLC20A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:213600
6575	SLC20A2	HP:0001300	Parkinsonism	1/8	OMIM:213600
6575	SLC20A2	HP:0002015	Dysphagia	HP:0040283	ORPHA:1980
6575	SLC20A2	HP:0002067	Bradykinesia	HP:0040282	ORPHA:1980
6575	SLC20A2	HP:0002067	Bradykinesia	-	OMIM:213600
6575	SLC20A2	HP:0003394	Muscle spasm	HP:0040283	ORPHA:1980
6575	SLC20A2	HP:0002063	Rigidity	HP:0040282	ORPHA:1980
6575	SLC20A2	HP:0002063	Rigidity	-	OMIM:213600
6575	SLC20A2	HP:0002075	Dysdiadochokinesis	-	OMIM:213600
6575	SLC20A2	HP:0002072	Chorea	-	OMIM:213600
6575	SLC20A2	HP:0003388	Easy fatigability	HP:0040283	ORPHA:1980
6575	SLC20A2	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:1980
6575	SLC20A2	HP:0002135	Basal ganglia calcification	6/8	OMIM:213600
6575	SLC20A2	HP:0002172	Postural instability	-	OMIM:213600
6575	SLC20A2	HP:0003581	Adult onset	8/8	OMIM:213600
6575	SLC20A2	HP:0002344	Progressive neurologic deterioration	HP:0040282	ORPHA:1980
6575	SLC20A2	HP:0003676	Progressive	-	OMIM:213600
6575	SLC20A2	HP:0002354	Memory impairment	HP:0040283	ORPHA:1980
6575	SLC20A2	HP:0002354	Memory impairment	-	OMIM:213600
6575	SLC20A2	HP:0002321	Vertigo	HP:0040282	ORPHA:1980
6575	SLC20A2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:1980
6575	SLC20A2	HP:0002315	Headache	HP:0040282	ORPHA:1980
6575	SLC20A2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1980
6575	SLC20A2	HP:0007146	Bilateral basal ganglia lesions	HP:0040282	ORPHA:1980
6575	SLC20A2	HP:0032180	Abnormal circulating metabolite concentration	-	ORPHA:1980
6575	SLC20A2	HP:0002312	Clumsiness	HP:0040283	ORPHA:1980
6575	SLC20A2	HP:0002305	Athetosis	-	OMIM:213600
6575	SLC20A2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:1980
6575	SLC20A2	HP:0031987	Diminished ability to concentrate	HP:0040283	ORPHA:1980
6575	SLC20A2	HP:0000802	Impotence	HP:0040283	ORPHA:1980
6575	SLC20A2	HP:0004363	Abnormal circulating calcium concentration	0/8	OMIM:213600
6575	SLC20A2	HP:0031908	Micrographia	-	OMIM:213600
6575	SLC20A2	HP:0000751	Personality changes	HP:0040282	ORPHA:1980
6575	SLC20A2	HP:0000739	Anxiety	HP:0040282	ORPHA:1980
6575	SLC20A2	HP:0000716	Depression	-	OMIM:213600
6575	SLC20A2	HP:0000726	Dementia	HP:0040282	ORPHA:1980
6575	SLC20A2	HP:0000709	Psychosis	HP:0040282	ORPHA:1980
6575	SLC20A2	HP:0000709	Psychosis	-	OMIM:213600
6575	SLC20A2	HP:0011463	Childhood onset	2/8	OMIM:213600
6575	SLC20A2	HP:0011450	Unusual CNS infection	-	ORPHA:1980
6575	SLC20A2	HP:0000822	Hypertension	HP:0040283	ORPHA:1980
6575	SLC20A2	HP:0000298	Mask-like facies	HP:0040282	ORPHA:1980
6575	SLC20A2	HP:0000298	Mask-like facies	-	OMIM:213600
6576	SLC25A1	HP:6000509	Elevated CSF L-2-hydroxyglutaric acid concentration	-	OMIM:615182
6576	SLC25A1	HP:0002421	Poor head control	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:98914
6576	SLC25A1	HP:0001298	Encephalopathy	-	OMIM:615182
6576	SLC25A1	HP:0001274	Agenesis of corpus callosum	1/3	OMIM:618197
6576	SLC25A1	HP:0001270	Motor delay	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0001270	Motor delay	-	OMIM:618197
6576	SLC25A1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0001283	Bulbar palsy	1/3	OMIM:618197
6576	SLC25A1	HP:0001283	Bulbar palsy	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0001284	Areflexia	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0001250	Seizure	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0001250	Seizure	12/12	OMIM:615182
6576	SLC25A1	HP:0001252	Hypotonia	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0001252	Hypotonia	10/10	OMIM:615182
6576	SLC25A1	HP:0001251	Ataxia	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0001265	Hyporeflexia	1/3	OMIM:618197
6576	SLC25A1	HP:0001265	Hyporeflexia	HP:0040284	ORPHA:98914
6576	SLC25A1	HP:0001263	Global developmental delay	11/11	OMIM:615182
6576	SLC25A1	HP:0001263	Global developmental delay	2/3	OMIM:618197
6576	SLC25A1	HP:0002515	Waddling gait	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0001374	Congenital hip dislocation	HP:0040284	ORPHA:98914
6576	SLC25A1	HP:0001382	Joint hypermobility	HP:0040284	ORPHA:98914
6576	SLC25A1	HP:0001324	Muscle weakness	-	OMIM:618197
6576	SLC25A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615182
6576	SLC25A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618197
6576	SLC25A1	HP:0001321	Cerebellar hypoplasia	-	OMIM:615182
6576	SLC25A1	HP:0008981	Calf muscle hypertrophy	1/3	OMIM:618197
6576	SLC25A1	HP:0025401	Staring gaze	HP:0040284	ORPHA:98914
6576	SLC25A1	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0002020	Gastroesophageal reflux	HP:0040284	ORPHA:98914
6576	SLC25A1	HP:0002033	Poor suck	1/3	OMIM:618197
6576	SLC25A1	HP:0002033	Poor suck	HP:0040281	ORPHA:98914
6576	SLC25A1	HP:0004661	Frontalis muscle weakness	HP:0040281	ORPHA:98914
6576	SLC25A1	HP:0003325	Limb-girdle muscle weakness	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0002015	Dysphagia	HP:0040281	ORPHA:98914
6576	SLC25A1	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0005943	Respiratory arrest	HP:0040284	ORPHA:98914
6576	SLC25A1	HP:0002094	Dyspnea	-	OMIM:615182
6576	SLC25A1	HP:0002093	Respiratory insufficiency	-	OMIM:615182
6576	SLC25A1	HP:0003388	Easy fatigability	3/3	OMIM:618197
6576	SLC25A1	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0003473	Fatigable weakness	3/3	OMIM:618197
6576	SLC25A1	HP:0003473	Fatigable weakness	HP:0040281	ORPHA:98914
6576	SLC25A1	HP:0002119	Ventriculomegaly	-	OMIM:615182
6576	SLC25A1	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:6000246	Elevated CSF D-2-hydroxyglutaric acid concentration	-	OMIM:615182
6576	SLC25A1	HP:0010536	Central sleep apnea	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0003593	Infantile onset	2/3	OMIM:618197
6576	SLC25A1	HP:0002240	Hepatomegaly	HP:0040283	OMIM:615182
6576	SLC25A1	HP:0100704	Cerebral visual impairment	HP:0040283	OMIM:615182
6576	SLC25A1	HP:0004885	Episodic respiratory distress	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0040281	ORPHA:98914
6576	SLC25A1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:98914
6576	SLC25A1	HP:0011968	Feeding difficulties	-	OMIM:615182
6576	SLC25A1	HP:0002392	EEG with polyspike wave complexes	HP:0040284	ORPHA:98914
6576	SLC25A1	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0002359	Frequent falls	-	OMIM:618197
6576	SLC25A1	HP:0008443	Neuropathic spinal arthropathy	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0003623	Neonatal onset	1/3	OMIM:618197
6576	SLC25A1	HP:0007178	Motor polyneuropathy	HP:0040284	ORPHA:98914
6576	SLC25A1	HP:0006829	Severe muscular hypotonia	-	OMIM:615182
6576	SLC25A1	HP:0000639	Nystagmus	HP:0040284	ORPHA:98914
6576	SLC25A1	HP:0000651	Diplopia	HP:0040284	ORPHA:98914
6576	SLC25A1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0031936	Delayed ability to walk	-	OMIM:618197
6576	SLC25A1	HP:0000768	Pectus carinatum	HP:0040284	ORPHA:98914
6576	SLC25A1	HP:0000737	Irritability	-	OMIM:615182
6576	SLC25A1	HP:0011469	Nasal regurgitation	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0012801	Narrow jaw	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0000817	Reduced eye contact	-	OMIM:615182
6576	SLC25A1	HP:0033092	Increased urine succinate level	7/8	OMIM:615182
6576	SLC25A1	HP:0030842	Choking episodes	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0010307	Stridor	-	OMIM:615182
6576	SLC25A1	HP:0010307	Stridor	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0100285	EMG: impaired neuromuscular transmission	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0000961	Cyanosis	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0040144	L-2-hydroxyglutaric aciduria	12/12	OMIM:615182
6576	SLC25A1	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0000256	Macrocephaly	HP:0040283	OMIM:615182
6576	SLC25A1	HP:0000276	Long face	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0000252	Microcephaly	HP:0040283	OMIM:615182
6576	SLC25A1	HP:0002882	Sudden episodic apnea	HP:0040281	ORPHA:98914
6576	SLC25A1	HP:0000218	High palate	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:98914
6576	SLC25A1	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0002870	Obstructive sleep apnea	HP:0040284	ORPHA:98914
6576	SLC25A1	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0030205	Increased jitter at single fiber EMG	2/2	OMIM:618197
6576	SLC25A1	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	-	ORPHA:98914
6576	SLC25A1	HP:0001618	Dysphonia	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0001612	Weak cry	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:98914
6576	SLC25A1	HP:0000369	Low-set ears	HP:0040284	ORPHA:98914
6576	SLC25A1	HP:0000308	Microretrognathia	HP:0040284	ORPHA:98914
6576	SLC25A1	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:98914
6576	SLC25A1	HP:0012448	Delayed myelination	-	OMIM:615182
6576	SLC25A1	HP:0000467	Neck muscle weakness	-	OMIM:618197
6576	SLC25A1	HP:0000467	Neck muscle weakness	HP:0040281	ORPHA:98914
6576	SLC25A1	HP:0012402	Increased urine alpha-ketoglutarate concentration	9/11	OMIM:615182
6576	SLC25A1	HP:0001761	Pes cavus	1/3	OMIM:618197
6576	SLC25A1	HP:0001761	Pes cavus	HP:0040283	ORPHA:98914
6576	SLC25A1	HP:0000508	Ptosis	HP:0040281	ORPHA:98914
6576	SLC25A1	HP:0000508	Ptosis	2/3	OMIM:618197
6576	SLC25A1	HP:0000565	Esotropia	HP:0040284	ORPHA:98914
6578	SLCO2A1	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6578	SLCO2A1	HP:0001293	Cranial nerve compression	-	OMIM:131300
6578	SLCO2A1	HP:0001252	Hypotonia	2/7	OMIM:615777
6578	SLCO2A1	HP:0001249	Intellectual disability	5/7	OMIM:615777
6578	SLCO2A1	HP:0001263	Global developmental delay	-	OMIM:615777
6578	SLCO2A1	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:2796
6578	SLCO2A1	HP:0001217	Clubbing	5/7	OMIM:614441
6578	SLCO2A1	HP:0002515	Waddling gait	54/102	OMIM:131300
6578	SLCO2A1	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:2796
6578	SLCO2A1	HP:0001369	Arthritis	HP:0040282	ORPHA:2796
6578	SLCO2A1	HP:0001386	Joint swelling	HP:0040282	ORPHA:2796
6578	SLCO2A1	HP:0001382	Joint hypermobility	-	OMIM:615777
6578	SLCO2A1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6578	SLCO2A1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6578	SLCO2A1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6578	SLCO2A1	HP:0001324	Muscle weakness	40/96	OMIM:131300
6578	SLCO2A1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6578	SLCO2A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614441
6578	SLCO2A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6578	SLCO2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:167100
6578	SLCO2A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6578	SLCO2A1	HP:0002653	Bone pain	HP:0040281	ORPHA:2796
6578	SLCO2A1	HP:0002650	Scoliosis	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0002650	Scoliosis	12/14	OMIM:131300
6578	SLCO2A1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6578	SLCO2A1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6578	SLCO2A1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6578	SLCO2A1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6578	SLCO2A1	HP:0000175	Cleft palate	2/7	OMIM:615777
6578	SLCO2A1	HP:0002797	Osteolysis	HP:0040282	ORPHA:2796
6578	SLCO2A1	HP:0002754	Osteomyelitis	HP:0040281	ORPHA:2796
6578	SLCO2A1	HP:0002024	Malabsorption	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0003388	Easy fatigability	36/76	OMIM:131300
6578	SLCO2A1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6578	SLCO2A1	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2796
6578	SLCO2A1	HP:0010541	Cutis gyrata of scalp	-	OMIM:167100
6578	SLCO2A1	HP:0010541	Cutis gyrata of scalp	HP:0040282	ORPHA:2796
6578	SLCO2A1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0010720	Abnormal hair pattern	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0100774	Hyperostosis	-	OMIM:614441
6578	SLCO2A1	HP:0100760	Clubbing of toes	HP:0040282	ORPHA:2796
6578	SLCO2A1	HP:0100759	Clubbing of fingers	0/3	OMIM:167100
6578	SLCO2A1	HP:0003510	Severe short stature	7/7	OMIM:615777
6578	SLCO2A1	HP:0001051	Seborrheic dermatitis	5/7	OMIM:614441
6578	SLCO2A1	HP:0001051	Seborrheic dermatitis	2/2	OMIM:167100
6578	SLCO2A1	HP:0001051	Seborrheic dermatitis	HP:0040281	ORPHA:2796
6578	SLCO2A1	HP:0001061	Acne	5/7	OMIM:614441
6578	SLCO2A1	HP:0001061	Acne	2/2	OMIM:167100
6578	SLCO2A1	HP:0001061	Acne	HP:0040282	ORPHA:2796
6578	SLCO2A1	HP:0002315	Headache	-	OMIM:131300
6578	SLCO2A1	HP:0004976	Knee dislocation	6/7	OMIM:615777
6578	SLCO2A1	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0001072	Thickened skin	5/7	OMIM:614441
6578	SLCO2A1	HP:0001072	Thickened skin	2/2	OMIM:167100
6578	SLCO2A1	HP:0001072	Thickened skin	HP:0040281	ORPHA:2796
6578	SLCO2A1	HP:0009803	Short phalanx of finger	-	OMIM:615777
6578	SLCO2A1	HP:0200055	Small hand	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0009763	Limb pain	63/92	OMIM:131300
6578	SLCO2A1	HP:0003621	Juvenile onset	-	OMIM:131300
6578	SLCO2A1	HP:0003621	Juvenile onset	2/5	OMIM:614441
6578	SLCO2A1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6578	SLCO2A1	HP:0034049	Elevated urinary prostaglandin E2 level	3/3	OMIM:167100
6578	SLCO2A1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6578	SLCO2A1	HP:0005561	Abnormal bone marrow cell morphology	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:6001056	Out-toeing	-	OMIM:131300
6578	SLCO2A1	HP:0000651	Diplopia	-	OMIM:131300
6578	SLCO2A1	HP:0001956	Truncal obesity	2/7	OMIM:615777
6578	SLCO2A1	HP:0001903	Anemia	HP:0040283	OMIM:131300
6578	SLCO2A1	HP:0001903	Anemia	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0010049	Short metacarpal	-	OMIM:615777
6578	SLCO2A1	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:2796
6578	SLCO2A1	HP:0000678	Dental crowding	-	OMIM:615777
6578	SLCO2A1	HP:0000670	Carious teeth	-	OMIM:131300
6578	SLCO2A1	HP:0011304	Broad thumb	2/7	OMIM:615777
6578	SLCO2A1	HP:0000668	Hypodontia	-	OMIM:615777
6578	SLCO2A1	HP:0000664	Synophrys	-	OMIM:615777
6578	SLCO2A1	HP:0003073	Hypoalbuminemia	3/7	OMIM:614441
6578	SLCO2A1	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0004396	Poor appetite	-	OMIM:131300
6578	SLCO2A1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6578	SLCO2A1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6578	SLCO2A1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6578	SLCO2A1	HP:0003026	Short long bone	7/7	OMIM:615777
6578	SLCO2A1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6578	SLCO2A1	HP:0000771	Gynecomastia	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0100021	Cerebral palsy	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6578	SLCO2A1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6578	SLCO2A1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6578	SLCO2A1	HP:0000750	Delayed speech and language development	-	OMIM:615777
6578	SLCO2A1	HP:0011462	Young adult onset	2/2	OMIM:167100
6578	SLCO2A1	HP:0011462	Young adult onset	3/5	OMIM:614441
6578	SLCO2A1	HP:0011461	Fetal onset	7/7	OMIM:615777
6578	SLCO2A1	HP:0000774	Narrow chest	2/7	OMIM:615777
6578	SLCO2A1	HP:0003103	Abnormal cortical bone morphology	HP:0040281	ORPHA:2796
6578	SLCO2A1	HP:0000926	Platyspondyly	1/7	OMIM:615777
6578	SLCO2A1	HP:0003180	Flat acetabular roof	-	OMIM:615777
6578	SLCO2A1	HP:0004482	Relative macrocephaly	-	OMIM:615777
6578	SLCO2A1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6578	SLCO2A1	HP:0000845	Elevated circulating growth hormone concentration	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0000823	Delayed puberty	-	OMIM:131300
6578	SLCO2A1	HP:0000894	Short clavicles	-	OMIM:615777
6578	SLCO2A1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6578	SLCO2A1	HP:0030839	Knee pain	5/7	OMIM:614441
6578	SLCO2A1	HP:0030839	Knee pain	2/2	OMIM:167100
6578	SLCO2A1	HP:0000975	Hyperhidrosis	1/7	OMIM:614441
6578	SLCO2A1	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:2796
6578	SLCO2A1	HP:0000975	Hyperhidrosis	1/2	OMIM:167100
6578	SLCO2A1	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6578	SLCO2A1	HP:0000969	Edema	HP:0040282	ORPHA:2796
6578	SLCO2A1	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0000286	Epicanthus	1/7	OMIM:615777
6578	SLCO2A1	HP:0000280	Coarse facial features	2/7	OMIM:615777
6578	SLCO2A1	HP:0000280	Coarse facial features	HP:0040282	ORPHA:2796
6578	SLCO2A1	HP:0006465	Periosteal thickening of long tubular bones	2/2	OMIM:167100
6578	SLCO2A1	HP:0002829	Arthralgia	HP:0040282	ORPHA:2796
6578	SLCO2A1	HP:0002827	Hip dislocation	3/7	OMIM:615777
6578	SLCO2A1	HP:0000252	Microcephaly	-	OMIM:615777
6578	SLCO2A1	HP:0002857	Genu valgum	-	OMIM:131300
6578	SLCO2A1	HP:0001533	Slender build	-	OMIM:131300
6578	SLCO2A1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6578	SLCO2A1	HP:0007807	Optic nerve compression	-	OMIM:131300
6578	SLCO2A1	HP:0012368	Flat face	7/7	OMIM:615777
6578	SLCO2A1	HP:0005208	Secretory diarrhea	7/7	OMIM:614441
6578	SLCO2A1	HP:0005208	Secretory diarrhea	1/2	OMIM:167100
6578	SLCO2A1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6578	SLCO2A1	HP:0000365	Hearing impairment	10/67	OMIM:131300
6578	SLCO2A1	HP:0000343	Long philtrum	1/7	OMIM:615777
6578	SLCO2A1	HP:0011001	Increased bone mineral density	-	OMIM:131300
6578	SLCO2A1	HP:0000311	Round face	2/7	OMIM:615777
6578	SLCO2A1	HP:0002970	Genu varum	-	OMIM:615777
6578	SLCO2A1	HP:0002970	Genu varum	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0000303	Mandibular prognathia	-	OMIM:131300
6578	SLCO2A1	HP:0030314	Periostosis	-	OMIM:614441
6578	SLCO2A1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6578	SLCO2A1	HP:0000470	Short neck	1/7	OMIM:615777
6578	SLCO2A1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6578	SLCO2A1	HP:0001763	Pes planus	1/7	OMIM:615777
6578	SLCO2A1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:2796
6578	SLCO2A1	HP:0001840	Metatarsus adductus	-	OMIM:615777
6578	SLCO2A1	HP:0000520	Proptosis	2/4	OMIM:131300
6578	SLCO2A1	HP:0000520	Proptosis	7/7	OMIM:615777
6578	SLCO2A1	HP:0000508	Ptosis	HP:0040283	OMIM:167100
6578	SLCO2A1	HP:0000508	Ptosis	HP:0040282	ORPHA:2796
6578	SLCO2A1	HP:0000592	Blue sclerae	2/7	OMIM:615777
6578	SLCO2A1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6578	SLCO2A1	HP:0012514	Lower limb pain	4/4	OMIM:131300
6583	SLC22A4	HP:0001370	Rheumatoid arthritis	-	OMIM:180300
6583	SLC22A4	HP:0001386	Joint swelling	-	OMIM:180300
6583	SLC22A4	HP:0001387	Joint stiffness	-	OMIM:180300
6583	SLC22A4	HP:0006150	Swan neck-like deformities of the fingers	-	OMIM:180300
6583	SLC22A4	HP:0002633	Vasculitis	-	OMIM:180300
6583	SLC22A4	HP:0006252	Interphalangeal joint erosions	-	OMIM:180300
6583	SLC22A4	HP:0003565	Elevated erythrocyte sedimentation rate	-	OMIM:180300
6583	SLC22A4	HP:0001945	Fever	-	OMIM:180300
6583	SLC22A4	HP:0005764	Polyarticular arthritis	-	OMIM:180300
6583	SLC22A4	HP:0033034	Anti-citrullinated protein antibody positivity	-	OMIM:180300
6583	SLC22A4	HP:0012276	Digital flexor tenosynovitis	-	OMIM:180300
6583	SLC22A4	HP:0002829	Arthralgia	-	OMIM:180300
6583	SLC22A4	HP:0012378	Fatigue	-	OMIM:180300
6583	SLC22A4	HP:0002923	Rheumatoid factor positive	-	OMIM:180300
6583	SLC22A4	HP:0001824	Weight loss	-	OMIM:180300
6583	SLC22A4	HP:0011227	Elevated circulating C-reactive protein concentration	-	OMIM:180300
6584	SLC22A5	HP:0003701	Proximal muscle weakness	1/5	OMIM:212140
6584	SLC22A5	HP:0001298	Encephalopathy	-	OMIM:212140
6584	SLC22A5	HP:0001290	Generalized hypotonia	-	OMIM:212140
6584	SLC22A5	HP:0001289	Confusion	HP:0040281	ORPHA:158
6584	SLC22A5	HP:0001289	Confusion	-	OMIM:212140
6584	SLC22A5	HP:0001254	Lethargy	-	OMIM:212140
6584	SLC22A5	HP:0001252	Hypotonia	-	OMIM:212140
6584	SLC22A5	HP:0001263	Global developmental delay	1/5	OMIM:212140
6584	SLC22A5	HP:0001262	Excessive daytime somnolence	-	OMIM:212140
6584	SLC22A5	HP:0001259	Coma	2/5	OMIM:212140
6584	SLC22A5	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040281	ORPHA:158
6584	SLC22A5	HP:0001324	Muscle weakness	HP:0040281	ORPHA:158
6584	SLC22A5	HP:0001324	Muscle weakness	11/15	OMIM:212140
6584	SLC22A5	HP:0000007	Autosomal recessive inheritance	-	OMIM:212140
6584	SLC22A5	HP:0001414	Microvesicular hepatic steatosis	1/5	OMIM:212140
6584	SLC22A5	HP:0002014	Diarrhea	1/5	OMIM:212140
6584	SLC22A5	HP:0002013	Vomiting	HP:0040281	ORPHA:158
6584	SLC22A5	HP:0002013	Vomiting	-	OMIM:212140
6584	SLC22A5	HP:0005959	Impaired gluconeogenesis	-	OMIM:212140
6584	SLC22A5	HP:0002098	Respiratory distress	1/5	OMIM:212140
6584	SLC22A5	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:158
6584	SLC22A5	HP:0002240	Hepatomegaly	1/5	OMIM:212140
6584	SLC22A5	HP:0002312	Clumsiness	HP:0040281	ORPHA:158
6584	SLC22A5	HP:0006846	Acute encephalopathy	HP:0040281	ORPHA:158
6584	SLC22A5	HP:0001944	Dehydration	2/5	OMIM:212140
6584	SLC22A5	HP:0001946	Ketosis	0/5	OMIM:212140
6584	SLC22A5	HP:0001988	Recurrent hypoglycemia	1/5	OMIM:212140
6584	SLC22A5	HP:0001987	Hyperammonemia	-	OMIM:212140
6584	SLC22A5	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/5	OMIM:212140
6584	SLC22A5	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/5	OMIM:212140
6584	SLC22A5	HP:0011463	Childhood onset	5/5	OMIM:212140
6584	SLC22A5	HP:0003198	Myopathy	-	OMIM:212140
6584	SLC22A5	HP:0003236	Elevated circulating creatine kinase concentration	1/5	OMIM:212140
6584	SLC22A5	HP:0003234	Decreased circulating carnitine concentration	5/5	OMIM:212140
6584	SLC22A5	HP:0003215	Dicarboxylic aciduria	1/5	OMIM:212140
6584	SLC22A5	HP:0045061	Decreased carnitine level in liver	-	OMIM:212140
6584	SLC22A5	HP:0001508	Failure to thrive	-	OMIM:212140
6584	SLC22A5	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:158
6584	SLC22A5	HP:0001653	Mitral regurgitation	1/5	OMIM:212140
6584	SLC22A5	HP:0001640	Cardiomegaly	-	OMIM:212140
6584	SLC22A5	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:212140
6584	SLC22A5	HP:0001635	Congestive heart failure	-	OMIM:212140
6584	SLC22A5	HP:0001638	Cardiomyopathy	2/5	OMIM:212140
6584	SLC22A5	HP:0001706	Endocardial fibroelastosis	-	OMIM:212140
6584	SLC22A5	HP:0000467	Neck muscle weakness	HP:0040281	ORPHA:158
6584	SLC22A5	HP:0030362	Reduced muscle carnitine level	-	OMIM:212140
6591	SNAI2	HP:0001100	Heterochromia iridis	HP:0040282	ORPHA:895
6591	SNAI2	HP:0001100	Heterochromia iridis	HP:0040283	ORPHA:2884
6591	SNAI2	HP:0001252	Hypotonia	HP:0040283	ORPHA:2884
6591	SNAI2	HP:0001251	Ataxia	HP:0040283	ORPHA:2884
6591	SNAI2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2884
6591	SNAI2	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:895
6591	SNAI2	HP:0002683	Abnormal calvaria morphology	HP:0040283	ORPHA:2884
6591	SNAI2	HP:0007544	Piebald skin depigmentation	HP:0040281	ORPHA:2884
6591	SNAI2	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:2884
6591	SNAI2	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:895
6591	SNAI2	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:895
6591	SNAI2	HP:0002227	White eyelashes	HP:0040282	ORPHA:2884
6591	SNAI2	HP:0002226	White eyebrow	HP:0040282	ORPHA:2884
6591	SNAI2	HP:0002211	White forelock	HP:0040282	ORPHA:895
6591	SNAI2	HP:0002211	White forelock	HP:0040281	ORPHA:2884
6591	SNAI2	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:2884
6591	SNAI2	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:895
6591	SNAI2	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:2884
6591	SNAI2	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:895
6591	SNAI2	HP:0000664	Synophrys	HP:0040283	ORPHA:2884
6591	SNAI2	HP:0012733	Macule	HP:0040282	ORPHA:2884
6591	SNAI2	HP:0004414	Abnormality of the pulmonary artery	HP:0040283	ORPHA:895
6591	SNAI2	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:2884
6591	SNAI2	HP:0000252	Microcephaly	HP:0040283	ORPHA:2884
6591	SNAI2	HP:0000365	Hearing impairment	HP:0040281	ORPHA:895
6591	SNAI2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2884
6591	SNAI2	HP:0000343	Long philtrum	HP:0040283	ORPHA:2884
6591	SNAI2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:895
6591	SNAI2	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:2884
6591	SNAI2	HP:0000506	Telecanthus	HP:0040283	ORPHA:895
6591	SNAI2	HP:0000508	Ptosis	HP:0040283	ORPHA:895
6595	SMARCA2	HP:0001182	Tapered finger	8/14	OMIM:619293
6595	SMARCA2	HP:0001156	Brachydactyly	-	OMIM:601358
6595	SMARCA2	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0001167	Abnormal finger morphology	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0002465	Poor speech	-	OMIM:601358
6595	SMARCA2	HP:0009928	Thick nasal alae	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0010864	Intellectual disability, severe	25/39	OMIM:601358
6595	SMARCA2	HP:0009882	Short distal phalanx of finger	2/12	OMIM:619293
6595	SMARCA2	HP:0100807	Long fingers	1/3	OMIM:601358
6595	SMARCA2	HP:0001250	Seizure	3/3	OMIM:601358
6595	SMARCA2	HP:0001250	Seizure	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0001250	Seizure	3/14	OMIM:619293
6595	SMARCA2	HP:0001252	Hypotonia	1/3	OMIM:601358
6595	SMARCA2	HP:0001252	Hypotonia	9/12	OMIM:619293
6595	SMARCA2	HP:0001249	Intellectual disability	36/36	OMIM:601358
6595	SMARCA2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0001249	Intellectual disability	14/14	OMIM:619293
6595	SMARCA2	HP:0001263	Global developmental delay	1/3	OMIM:601358
6595	SMARCA2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0001263	Global developmental delay	14/14	OMIM:619293
6595	SMARCA2	HP:0007392	Excessive wrinkled skin	18/36	OMIM:601358
6595	SMARCA2	HP:0007392	Excessive wrinkled skin	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0002553	Highly arched eyebrow	10/14	OMIM:619293
6595	SMARCA2	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0000066	Labial hypoplasia	1/5	OMIM:619293
6595	SMARCA2	HP:0001371	Flexion contracture	6/14	OMIM:619293
6595	SMARCA2	HP:0001373	Joint dislocation	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0001385	Hip dysplasia	2/14	OMIM:619293
6595	SMARCA2	HP:0001382	Joint hypermobility	3/12	OMIM:619293
6595	SMARCA2	HP:0025325	Sparse medial eyebrow	1/3	OMIM:601358
6595	SMARCA2	HP:0000047	Hypospadias	1/7	OMIM:619293
6595	SMARCA2	HP:0000023	Inguinal hernia	2/3	OMIM:601358
6595	SMARCA2	HP:0000035	Abnormal testis morphology	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0001357	Plagiocephaly	3/14	OMIM:619293
6595	SMARCA2	HP:0000028	Cryptorchidism	2/3	OMIM:601358
6595	SMARCA2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0000028	Cryptorchidism	3/7	OMIM:619293
6595	SMARCA2	HP:0006237	Prominent interphalangeal joints	29/38	OMIM:601358
6595	SMARCA2	HP:0033725	Thin corpus callosum	1/14	OMIM:619293
6595	SMARCA2	HP:0001328	Specific learning disability	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0000010	Recurrent urinary tract infections	1/13	OMIM:619293
6595	SMARCA2	HP:0001344	Absent speech	-	OMIM:601358
6595	SMARCA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:601358
6595	SMARCA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619293
6595	SMARCA2	HP:0002650	Scoliosis	-	OMIM:601358
6595	SMARCA2	HP:0002650	Scoliosis	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0002650	Scoliosis	3/12	OMIM:619293
6595	SMARCA2	HP:0000179	Thick lower lip vermilion	32/36	OMIM:601358
6595	SMARCA2	HP:0000154	Wide mouth	2/14	OMIM:619293
6595	SMARCA2	HP:0000154	Wide mouth	34/36	OMIM:601358
6595	SMARCA2	HP:0000154	Wide mouth	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0007665	Curly eyelashes	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0002705	High, narrow palate	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0002705	High, narrow palate	1/3	OMIM:601358
6595	SMARCA2	HP:0006297	Enamel hypoplasia	1/12	OMIM:619293
6595	SMARCA2	HP:0012110	Hypoplasia of the pons	1/14	OMIM:619293
6595	SMARCA2	HP:0002750	Delayed skeletal maturation	1/3	OMIM:601358
6595	SMARCA2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:3051
6595	SMARCA2	HP:0002750	Delayed skeletal maturation	1/6	OMIM:619293
6595	SMARCA2	HP:0002020	Gastroesophageal reflux	4/13	OMIM:619293
6595	SMARCA2	HP:0002019	Constipation	1/3	OMIM:601358
6595	SMARCA2	HP:0002007	Frontal bossing	7/14	OMIM:619293
6595	SMARCA2	HP:0002066	Gait ataxia	1/3	OMIM:601358
6595	SMARCA2	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:3051
6595	SMARCA2	HP:0005916	Abnormal metacarpal morphology	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0002133	Status epilepticus	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0002162	Low posterior hairline	1/3	OMIM:601358
6595	SMARCA2	HP:0010529	Echolalia	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0010511	Long toe	1/3	OMIM:601358
6595	SMARCA2	HP:0002263	Exaggerated cupid's bow	8/14	OMIM:619293
6595	SMARCA2	HP:0002223	Absent eyebrow	-	OMIM:601358
6595	SMARCA2	HP:0002209	Sparse scalp hair	4/14	OMIM:619293
6595	SMARCA2	HP:0002209	Sparse scalp hair	36/39	OMIM:601358
6595	SMARCA2	HP:0002205	Recurrent respiratory infections	1/3	OMIM:601358
6595	SMARCA2	HP:0010720	Abnormal hair pattern	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0100790	Hernia	HP:0040283	ORPHA:3051
6595	SMARCA2	HP:0100760	Clubbing of toes	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0007018	Attention deficit hyperactivity disorder	1/13	OMIM:619293
6595	SMARCA2	HP:0007018	Attention deficit hyperactivity disorder	1/3	OMIM:601358
6595	SMARCA2	HP:0011968	Feeding difficulties	2/3	OMIM:601358
6595	SMARCA2	HP:0011968	Feeding difficulties	2/13	OMIM:619293
6595	SMARCA2	HP:0010624	Aplastic/hypoplastic toenail	4/11	OMIM:619293
6595	SMARCA2	HP:0003510	Severe short stature	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0003502	Mild short stature	1/3	OMIM:601358
6595	SMARCA2	HP:0002381	Aphasia	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0100678	Premature skin wrinkling	2/3	OMIM:601358
6595	SMARCA2	HP:0009836	Broad distal phalanx of finger	21/35	OMIM:601358
6595	SMARCA2	HP:0009836	Broad distal phalanx of finger	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0009803	Short phalanx of finger	-	OMIM:601358
6595	SMARCA2	HP:0010751	Dimple chin	6/14	OMIM:619293
6595	SMARCA2	HP:0010743	Short metatarsal	16/32	OMIM:601358
6595	SMARCA2	HP:0009765	Low hanging columella	1/3	OMIM:601358
6595	SMARCA2	HP:0002300	Mutism	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0003623	Neonatal onset	3/3	OMIM:601358
6595	SMARCA2	HP:0002308	Chiari malformation	1/9	OMIM:619293
6595	SMARCA2	HP:0002307	Drooling	2/14	OMIM:619293
6595	SMARCA2	HP:0002307	Drooling	1/3	OMIM:601358
6595	SMARCA2	HP:0004209	Clinodactyly of the 5th finger	2/14	OMIM:619293
6595	SMARCA2	HP:0004279	Short palm	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0000607	Periorbital wrinkles	1/3	OMIM:601358
6595	SMARCA2	HP:0010049	Short metacarpal	16/32	OMIM:601358
6595	SMARCA2	HP:0011359	Dry hair	1/3	OMIM:601358
6595	SMARCA2	HP:0000691	Microdontia	1/12	OMIM:619293
6595	SMARCA2	HP:0000689	Dental malocclusion	1/12	OMIM:619293
6595	SMARCA2	HP:0000687	Widely spaced teeth	4/12	OMIM:619293
6595	SMARCA2	HP:0000687	Widely spaced teeth	-	OMIM:601358
6595	SMARCA2	HP:0000653	Sparse eyelashes	11/14	OMIM:619293
6595	SMARCA2	HP:0000664	Synophrys	4/14	OMIM:619293
6595	SMARCA2	HP:0004322	Short stature	1/3	OMIM:601358
6595	SMARCA2	HP:0005616	Accelerated skeletal maturation	HP:0040283	ORPHA:3051
6595	SMARCA2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:3051
6595	SMARCA2	HP:0000805	Enuresis	1/14	OMIM:619293
6595	SMARCA2	HP:0003037	Enlarged joints	1/3	OMIM:601358
6595	SMARCA2	HP:0031936	Delayed ability to walk	10/14	OMIM:619293
6595	SMARCA2	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0100025	Overfriendliness	1/13	OMIM:619293
6595	SMARCA2	HP:0000733	Motor stereotypy	1/13	OMIM:619293
6595	SMARCA2	HP:0000736	Short attention span	2/3	OMIM:601358
6595	SMARCA2	HP:0000750	Delayed speech and language development	9/13	OMIM:619293
6595	SMARCA2	HP:0100040	Broad 2nd toe	1/3	OMIM:601358
6595	SMARCA2	HP:0000744	Low frustration tolerance	2/13	OMIM:619293
6595	SMARCA2	HP:0000718	Aggressive behavior	1/3	OMIM:601358
6595	SMARCA2	HP:0000729	Autistic behavior	1/13	OMIM:619293
6595	SMARCA2	HP:0003196	Short nose	1/3	OMIM:601358
6595	SMARCA2	HP:0012810	Wide nasal base	-	OMIM:601358
6595	SMARCA2	HP:0045075	Sparse eyebrow	11/14	OMIM:619293
6595	SMARCA2	HP:0000998	Hypertrichosis	1/3	OMIM:601358
6595	SMARCA2	HP:0000957	Cafe-au-lait spot	1/3	OMIM:601358
6595	SMARCA2	HP:0000954	Single transverse palmar crease	1/3	OMIM:601358
6595	SMARCA2	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0000964	Eczematoid dermatitis	-	OMIM:601358
6595	SMARCA2	HP:0045025	Narrow palpebral fissure	10/14	OMIM:619293
6595	SMARCA2	HP:0045025	Narrow palpebral fissure	-	OMIM:601358
6595	SMARCA2	HP:0008070	Sparse hair	1/3	OMIM:601358
6595	SMARCA2	HP:0008070	Sparse hair	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0008064	Ichthyosis	1/3	OMIM:601358
6595	SMARCA2	HP:0000286	Epicanthus	14/14	OMIM:619293
6595	SMARCA2	HP:0000294	Low anterior hairline	3/13	OMIM:619293
6595	SMARCA2	HP:0000294	Low anterior hairline	1/3	OMIM:601358
6595	SMARCA2	HP:0000289	Broad philtrum	31/36	OMIM:601358
6595	SMARCA2	HP:0001596	Alopecia	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0000252	Microcephaly	20/38	OMIM:601358
6595	SMARCA2	HP:0000252	Microcephaly	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0000219	Thin upper lip vermilion	29/39	OMIM:601358
6595	SMARCA2	HP:0000219	Thin upper lip vermilion	12/14	OMIM:619293
6595	SMARCA2	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0000232	Everted lower lip vermilion	-	OMIM:601358
6595	SMARCA2	HP:0000200	Short lingual frenulum	1/3	OMIM:601358
6595	SMARCA2	HP:0001537	Umbilical hernia	1/3	OMIM:601358
6595	SMARCA2	HP:0001508	Failure to thrive	1/3	OMIM:601358
6595	SMARCA2	HP:0002837	Recurrent bronchitis	3/14	OMIM:619293
6595	SMARCA2	HP:0001511	Intrauterine growth retardation	10/34	OMIM:601358
6595	SMARCA2	HP:0001510	Growth delay	19/36	OMIM:601358
6595	SMARCA2	HP:0011097	Epileptic spasm	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0000384	Preauricular skin tag	1/3	OMIM:601358
6595	SMARCA2	HP:0012368	Flat face	5/14	OMIM:619293
6595	SMARCA2	HP:0006532	Recurrent pneumonia	1/14	OMIM:619293
6595	SMARCA2	HP:0000358	Posteriorly rotated ears	2/3	OMIM:601358
6595	SMARCA2	HP:0000358	Posteriorly rotated ears	1/14	OMIM:619293
6595	SMARCA2	HP:0000369	Low-set ears	2/14	OMIM:619293
6595	SMARCA2	HP:0000343	Long philtrum	30/39	OMIM:601358
6595	SMARCA2	HP:0000343	Long philtrum	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0001680	Coarctation of aorta	1/3	OMIM:601358
6595	SMARCA2	HP:0000319	Smooth philtrum	1/3	OMIM:601358
6595	SMARCA2	HP:0000319	Smooth philtrum	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0000316	Hypertelorism	8/14	OMIM:619293
6595	SMARCA2	HP:0001643	Patent ductus arteriosus	1/13	OMIM:619293
6595	SMARCA2	HP:0000322	Short philtrum	4/14	OMIM:619293
6595	SMARCA2	HP:0000325	Triangular face	3/3	OMIM:601358
6595	SMARCA2	HP:0000325	Triangular face	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0007946	Unilateral narrow palpebral fissure	-	OMIM:601358
6595	SMARCA2	HP:0006610	Wide intermamillary distance	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0000400	Macrotia	1/3	OMIM:601358
6595	SMARCA2	HP:0000494	Downslanted palpebral fissures	1/3	OMIM:601358
6595	SMARCA2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:3051
6595	SMARCA2	HP:0000463	Anteverted nares	33/39	OMIM:601358
6595	SMARCA2	HP:0000463	Anteverted nares	HP:0040281	ORPHA:3051
6595	SMARCA2	HP:0000463	Anteverted nares	3/14	OMIM:619293
6595	SMARCA2	HP:0001763	Pes planus	4/13	OMIM:619293
6595	SMARCA2	HP:0000446	Narrow nasal bridge	1/3	OMIM:601358
6595	SMARCA2	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0000445	Wide nose	4/14	OMIM:619293
6595	SMARCA2	HP:0000418	Narrow nasal ridge	4/14	OMIM:619293
6595	SMARCA2	HP:0000414	Bulbous nose	1/3	OMIM:601358
6595	SMARCA2	HP:0001762	Talipes equinovarus	2/14	OMIM:619293
6595	SMARCA2	HP:0000431	Wide nasal bridge	10/14	OMIM:619293
6595	SMARCA2	HP:0000430	Underdeveloped nasal alae	7/14	OMIM:619293
6595	SMARCA2	HP:0000527	Long eyelashes	2/14	OMIM:619293
6595	SMARCA2	HP:0000527	Long eyelashes	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0000527	Long eyelashes	2/3	OMIM:601358
6595	SMARCA2	HP:0001852	Sandal gap	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0001852	Sandal gap	3/3	OMIM:601358
6595	SMARCA2	HP:0001822	Hallux valgus	1/3	OMIM:601358
6595	SMARCA2	HP:0000508	Ptosis	2/14	OMIM:619293
6595	SMARCA2	HP:0000581	Blepharophimosis	14/14	OMIM:619293
6595	SMARCA2	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:3051
6595	SMARCA2	HP:0000574	Thick eyebrow	1/14	OMIM:619293
6597	SMARCA4	HP:0009928	Thick nasal alae	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0009928	Thick nasal alae	-	OMIM:614609
6597	SMARCA4	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0009879	Simplified gyral pattern	HP:0040283	ORPHA:1465
6597	SMARCA4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6597	SMARCA4	HP:0001293	Cranial nerve compression	-	OMIM:131300
6597	SMARCA4	HP:0001274	Agenesis of corpus callosum	6/12	OMIM:614609
6597	SMARCA4	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:1465
6597	SMARCA4	HP:0001250	Seizure	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0001250	Seizure	2/12	OMIM:614609
6597	SMARCA4	HP:0001252	Hypotonia	8/11	OMIM:614609
6597	SMARCA4	HP:0001252	Hypotonia	2/7	OMIM:615777
6597	SMARCA4	HP:0001249	Intellectual disability	11/11	OMIM:614609
6597	SMARCA4	HP:0001249	Intellectual disability	5/7	OMIM:615777
6597	SMARCA4	HP:0001263	Global developmental delay	11/11	OMIM:614609
6597	SMARCA4	HP:0001263	Global developmental delay	-	OMIM:615777
6597	SMARCA4	HP:0002515	Waddling gait	54/102	OMIM:131300
6597	SMARCA4	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:1465
6597	SMARCA4	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0001382	Joint hypermobility	-	OMIM:615777
6597	SMARCA4	HP:0000047	Hypospadias	HP:0040283	ORPHA:1465
6597	SMARCA4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6597	SMARCA4	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6597	SMARCA4	HP:0006237	Prominent interphalangeal joints	3/11	OMIM:614609
6597	SMARCA4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6597	SMARCA4	HP:0001324	Muscle weakness	40/96	OMIM:131300
6597	SMARCA4	HP:0001344	Absent speech	4/11	OMIM:614609
6597	SMARCA4	HP:0001344	Absent speech	HP:0040283	ORPHA:1465
6597	SMARCA4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6597	SMARCA4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6597	SMARCA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:614609
6597	SMARCA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:613325
6597	SMARCA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
6597	SMARCA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6597	SMARCA4	HP:0000006	Autosomal dominant inheritance	-	OMIM:620792
6597	SMARCA4	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:1465
6597	SMARCA4	HP:0001305	Dandy-Walker malformation	1/6	OMIM:614609
6597	SMARCA4	HP:0002650	Scoliosis	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0002650	Scoliosis	12/14	OMIM:131300
6597	SMARCA4	HP:0002650	Scoliosis	5/10	OMIM:614609
6597	SMARCA4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6597	SMARCA4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6597	SMARCA4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6597	SMARCA4	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:1465
6597	SMARCA4	HP:0000179	Thick lower lip vermilion	10/12	OMIM:614609
6597	SMARCA4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6597	SMARCA4	HP:0000158	Macroglossia	-	OMIM:614609
6597	SMARCA4	HP:0000175	Cleft palate	4/12	OMIM:614609
6597	SMARCA4	HP:0000175	Cleft palate	2/7	OMIM:615777
6597	SMARCA4	HP:0000154	Wide mouth	-	OMIM:614609
6597	SMARCA4	HP:0000154	Wide mouth	HP:0040281	ORPHA:1465
6597	SMARCA4	HP:0008947	Floppy infant	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0002750	Delayed skeletal maturation	-	OMIM:614609
6597	SMARCA4	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0002719	Recurrent infections	8/12	OMIM:614609
6597	SMARCA4	HP:0002719	Recurrent infections	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0003388	Easy fatigability	36/76	OMIM:131300
6597	SMARCA4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6597	SMARCA4	HP:0034401	Atypical teratoid/rhabdoid tumor	1/2	OMIM:613325
6597	SMARCA4	HP:0034402	Rhabdoid tumor of the kidney	1/2	OMIM:613325
6597	SMARCA4	HP:0011937	Hypoplastic fifth toenail	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0003593	Infantile onset	2/2	OMIM:613325
6597	SMARCA4	HP:0003584	Late onset	2/7	OMIM:620792
6597	SMARCA4	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0002209	Sparse scalp hair	5/12	OMIM:614609
6597	SMARCA4	HP:0100790	Hernia	HP:0040283	ORPHA:1465
6597	SMARCA4	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:1465
6597	SMARCA4	HP:0011968	Feeding difficulties	-	OMIM:614609
6597	SMARCA4	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0003510	Severe short stature	7/7	OMIM:615777
6597	SMARCA4	HP:0008398	Hypoplastic fifth fingernail	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0001007	Hirsutism	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0002315	Headache	-	OMIM:131300
6597	SMARCA4	HP:0004976	Knee dislocation	6/7	OMIM:615777
6597	SMARCA4	HP:0010803	Everted upper lip vermilion	4/11	OMIM:614609
6597	SMARCA4	HP:0009803	Short phalanx of finger	-	OMIM:615777
6597	SMARCA4	HP:0009763	Limb pain	63/92	OMIM:131300
6597	SMARCA4	HP:0004935	Pulmonary artery atresia	1/12	OMIM:614609
6597	SMARCA4	HP:0003621	Juvenile onset	-	OMIM:131300
6597	SMARCA4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6597	SMARCA4	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
6597	SMARCA4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6597	SMARCA4	HP:6001056	Out-toeing	-	OMIM:131300
6597	SMARCA4	HP:0000651	Diplopia	-	OMIM:131300
6597	SMARCA4	HP:0001956	Truncal obesity	2/7	OMIM:615777
6597	SMARCA4	HP:0001903	Anemia	HP:0040283	OMIM:131300
6597	SMARCA4	HP:0010049	Short metacarpal	-	OMIM:615777
6597	SMARCA4	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0000678	Dental crowding	-	OMIM:615777
6597	SMARCA4	HP:0000670	Carious teeth	-	OMIM:131300
6597	SMARCA4	HP:0011304	Broad thumb	2/7	OMIM:615777
6597	SMARCA4	HP:0000668	Hypodontia	-	OMIM:615777
6597	SMARCA4	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0000664	Synophrys	-	OMIM:615777
6597	SMARCA4	HP:0004322	Short stature	-	OMIM:614609
6597	SMARCA4	HP:0004396	Poor appetite	-	OMIM:131300
6597	SMARCA4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6597	SMARCA4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6597	SMARCA4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6597	SMARCA4	HP:0003026	Short long bone	7/7	OMIM:615777
6597	SMARCA4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6597	SMARCA4	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1465
6597	SMARCA4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6597	SMARCA4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6597	SMARCA4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6597	SMARCA4	HP:0000750	Delayed speech and language development	-	OMIM:615777
6597	SMARCA4	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:1465
6597	SMARCA4	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1465
6597	SMARCA4	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0011463	Childhood onset	1/7	OMIM:620792
6597	SMARCA4	HP:0011462	Young adult onset	4/7	OMIM:620792
6597	SMARCA4	HP:0011461	Fetal onset	7/7	OMIM:615777
6597	SMARCA4	HP:0000774	Narrow chest	2/7	OMIM:615777
6597	SMARCA4	HP:0003196	Short nose	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0000926	Platyspondyly	1/7	OMIM:615777
6597	SMARCA4	HP:0003180	Flat acetabular roof	-	OMIM:615777
6597	SMARCA4	HP:0004482	Relative macrocephaly	-	OMIM:615777
6597	SMARCA4	HP:0004467	Preauricular pit	-	OMIM:187500
6597	SMARCA4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6597	SMARCA4	HP:0100368	Short phalanx of the 5th toe	12/12	OMIM:614609
6597	SMARCA4	HP:0012810	Wide nasal base	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0000823	Delayed puberty	-	OMIM:131300
6597	SMARCA4	HP:0011560	Mitral atresia	1/12	OMIM:614609
6597	SMARCA4	HP:0000894	Short clavicles	-	OMIM:615777
6597	SMARCA4	HP:0009237	Short 5th finger	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0009237	Short 5th finger	12/12	OMIM:614609
6597	SMARCA4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6597	SMARCA4	HP:0000998	Hypertrichosis	HP:0040281	ORPHA:1465
6597	SMARCA4	HP:0000998	Hypertrichosis	12/12	OMIM:614609
6597	SMARCA4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6597	SMARCA4	HP:0000286	Epicanthus	1/7	OMIM:615777
6597	SMARCA4	HP:0000280	Coarse facial features	-	OMIM:614609
6597	SMARCA4	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1465
6597	SMARCA4	HP:0000280	Coarse facial features	2/7	OMIM:615777
6597	SMARCA4	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0000289	Broad philtrum	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0002827	Hip dislocation	3/7	OMIM:615777
6597	SMARCA4	HP:0030084	Clinodactyly	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0000252	Microcephaly	HP:0040284	ORPHA:1465
6597	SMARCA4	HP:0000252	Microcephaly	4/5	OMIM:614609
6597	SMARCA4	HP:0000252	Microcephaly	-	OMIM:615777
6597	SMARCA4	HP:0002884	Hepatoblastoma	HP:0040284	ORPHA:1465
6597	SMARCA4	HP:0000219	Thin upper lip vermilion	3/11	OMIM:614609
6597	SMARCA4	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0002895	Papillary thyroid carcinoma	HP:0040284	ORPHA:1465
6597	SMARCA4	HP:0002857	Genu valgum	-	OMIM:131300
6597	SMARCA4	HP:0001533	Slender build	-	OMIM:131300
6597	SMARCA4	HP:0001511	Intrauterine growth retardation	-	OMIM:614609
6597	SMARCA4	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:1465
6597	SMARCA4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6597	SMARCA4	HP:0001510	Growth delay	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0007807	Optic nerve compression	-	OMIM:131300
6597	SMARCA4	HP:0012368	Flat face	7/7	OMIM:615777
6597	SMARCA4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6597	SMARCA4	HP:0000362	Otosclerosis	4/4	OMIM:620792
6597	SMARCA4	HP:0000365	Hearing impairment	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0000365	Hearing impairment	7/7	OMIM:620792
6597	SMARCA4	HP:0000365	Hearing impairment	10/67	OMIM:131300
6597	SMARCA4	HP:0000365	Hearing impairment	4/12	OMIM:614609
6597	SMARCA4	HP:0000343	Long philtrum	3/11	OMIM:614609
6597	SMARCA4	HP:0000343	Long philtrum	1/7	OMIM:615777
6597	SMARCA4	HP:0011001	Increased bone mineral density	-	OMIM:131300
6597	SMARCA4	HP:0000337	Broad forehead	-	OMIM:187500
6597	SMARCA4	HP:0001643	Patent ductus arteriosus	2/12	OMIM:614609
6597	SMARCA4	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1465
6597	SMARCA4	HP:0000311	Round face	2/7	OMIM:615777
6597	SMARCA4	HP:0001642	Pulmonic stenosis	1/12	OMIM:614609
6597	SMARCA4	HP:0000322	Short philtrum	5/11	OMIM:614609
6597	SMARCA4	HP:0001629	Ventricular septal defect	3/12	OMIM:614609
6597	SMARCA4	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:1465
6597	SMARCA4	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0002970	Genu varum	-	OMIM:615777
6597	SMARCA4	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1465
6597	SMARCA4	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
6597	SMARCA4	HP:0001631	Atrial septal defect	1/12	OMIM:614609
6597	SMARCA4	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1465
6597	SMARCA4	HP:0000303	Mandibular prognathia	-	OMIM:131300
6597	SMARCA4	HP:0005280	Depressed nasal bridge	5/11	OMIM:614609
6597	SMARCA4	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6597	SMARCA4	HP:0000486	Strabismus	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0001792	Small nail	HP:0040281	ORPHA:1465
6597	SMARCA4	HP:0000463	Anteverted nares	-	OMIM:614609
6597	SMARCA4	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0000470	Short neck	1/7	OMIM:615777
6597	SMARCA4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6597	SMARCA4	HP:0001763	Pes planus	1/7	OMIM:615777
6597	SMARCA4	HP:0000446	Narrow nasal bridge	2/11	OMIM:614609
6597	SMARCA4	HP:0000445	Wide nose	-	OMIM:614609
6597	SMARCA4	HP:0000431	Wide nasal bridge	0/11	OMIM:614609
6597	SMARCA4	HP:0001840	Metatarsus adductus	-	OMIM:615777
6597	SMARCA4	HP:0000527	Long eyelashes	10/12	OMIM:614609
6597	SMARCA4	HP:0000520	Proptosis	2/4	OMIM:131300
6597	SMARCA4	HP:0000520	Proptosis	-	OMIM:187500
6597	SMARCA4	HP:0000520	Proptosis	7/7	OMIM:615777
6597	SMARCA4	HP:0000508	Ptosis	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0000508	Ptosis	9/12	OMIM:614609
6597	SMARCA4	HP:0000505	Visual impairment	5/11	OMIM:614609
6597	SMARCA4	HP:0000505	Visual impairment	HP:0040282	ORPHA:1465
6597	SMARCA4	HP:0000592	Blue sclerae	2/7	OMIM:615777
6597	SMARCA4	HP:0011231	Prominent eyelashes	HP:0040281	ORPHA:1465
6597	SMARCA4	HP:0000574	Thick eyebrow	9/12	OMIM:614609
6597	SMARCA4	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:1465
6597	SMARCA4	HP:0012523	Oral aversion	HP:0040283	ORPHA:1465
6597	SMARCA4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6597	SMARCA4	HP:0012514	Lower limb pain	4/4	OMIM:131300
6597	SMARCA4	HP:0000545	Myopia	HP:0040283	ORPHA:1465
6598	SMARCB1	HP:0025195	Central diaphragmatic hernia	1/4	OMIM:614608
6598	SMARCB1	HP:0009928	Thick nasal alae	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0009879	Simplified gyral pattern	HP:0040283	ORPHA:1465
6598	SMARCB1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6598	SMARCB1	HP:0001293	Cranial nerve compression	-	OMIM:131300
6598	SMARCB1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:1465
6598	SMARCB1	HP:0001273	Abnormal corpus callosum morphology	2/2	OMIM:614608
6598	SMARCB1	HP:0001269	Hemiparesis	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0100836	Malignant neoplasm of the central nervous system	HP:0040281	ORPHA:99966
6598	SMARCB1	HP:0001279	Syncope	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0001250	Seizure	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0001250	Seizure	2/4	OMIM:614608
6598	SMARCB1	HP:0001250	Seizure	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0001250	Seizure	HP:0040282	ORPHA:99966
6598	SMARCB1	HP:0001250	Seizure	HP:0040284	ORPHA:93921
6598	SMARCB1	HP:0001252	Hypotonia	4/4	OMIM:614608
6598	SMARCB1	HP:0001252	Hypotonia	2/7	OMIM:615777
6598	SMARCB1	HP:0001251	Ataxia	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0001251	Ataxia	HP:0040282	ORPHA:99966
6598	SMARCB1	HP:0001249	Intellectual disability	-	OMIM:614608
6598	SMARCB1	HP:0001249	Intellectual disability	5/7	OMIM:615777
6598	SMARCB1	HP:0001263	Global developmental delay	4/4	OMIM:614608
6598	SMARCB1	HP:0001263	Global developmental delay	-	OMIM:615777
6598	SMARCB1	HP:0001262	Excessive daytime somnolence	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0410275	Lumbosacral hemangioma	HP:0040283	ORPHA:93921
6598	SMARCB1	HP:0010997	Chromosomal breakage induced by ionizing radiation	HP:0040281	ORPHA:2495
6598	SMARCB1	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0002515	Waddling gait	54/102	OMIM:131300
6598	SMARCB1	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:99966
6598	SMARCB1	HP:0002512	Brain stem compression	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0003829	Typified by incomplete penetrance	-	OMIM:162091
6598	SMARCB1	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:1465
6598	SMARCB1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:99966
6598	SMARCB1	HP:0012032	Lipoma	HP:0040283	ORPHA:93921
6598	SMARCB1	HP:0001382	Joint hypermobility	2/3	OMIM:614608
6598	SMARCB1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0001382	Joint hypermobility	-	OMIM:615777
6598	SMARCB1	HP:0000047	Hypospadias	HP:0040283	ORPHA:1465
6598	SMARCB1	HP:0000023	Inguinal hernia	2/4	OMIM:614608
6598	SMARCB1	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6598	SMARCB1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6598	SMARCB1	HP:0002664	Neoplasm	HP:0040283	ORPHA:93921
6598	SMARCB1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6598	SMARCB1	HP:0001324	Muscle weakness	HP:0040283	ORPHA:93921
6598	SMARCB1	HP:0001324	Muscle weakness	40/96	OMIM:131300
6598	SMARCB1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:99966
6598	SMARCB1	HP:0001342	Cerebral hemorrhage	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0001344	Absent speech	HP:0040283	ORPHA:1465
6598	SMARCB1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6598	SMARCB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6598	SMARCB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:162091
6598	SMARCB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:609322
6598	SMARCB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614608
6598	SMARCB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6598	SMARCB1	HP:0033748	Hypoesthesia	HP:0040284	ORPHA:93921
6598	SMARCB1	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:1465
6598	SMARCB1	HP:0001305	Dandy-Walker malformation	0/2	OMIM:614608
6598	SMARCB1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93921
6598	SMARCB1	HP:0002650	Scoliosis	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0002650	Scoliosis	12/14	OMIM:131300
6598	SMARCB1	HP:0002650	Scoliosis	3/4	OMIM:614608
6598	SMARCB1	HP:0001321	Cerebellar hypoplasia	2/3	OMIM:614608
6598	SMARCB1	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6598	SMARCB1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6598	SMARCB1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6598	SMARCB1	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:1465
6598	SMARCB1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6598	SMARCB1	HP:0000158	Macroglossia	3/4	OMIM:614608
6598	SMARCB1	HP:0000175	Cleft palate	2/4	OMIM:614608
6598	SMARCB1	HP:0000175	Cleft palate	2/7	OMIM:615777
6598	SMARCB1	HP:0000141	Amenorrhea	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0000154	Wide mouth	4/4	OMIM:614608
6598	SMARCB1	HP:0000154	Wide mouth	HP:0040281	ORPHA:1465
6598	SMARCB1	HP:0008947	Floppy infant	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0000131	Uterine leiomyoma	HP:0040283	ORPHA:93921
6598	SMARCB1	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0001442	Typified by somatic mosaicism	-	OMIM:162091
6598	SMARCB1	HP:0002750	Delayed skeletal maturation	1/1	OMIM:614608
6598	SMARCB1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0002719	Recurrent infections	3/4	OMIM:614608
6598	SMARCB1	HP:0002719	Recurrent infections	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:99966
6598	SMARCB1	HP:0002033	Poor suck	4/4	OMIM:614608
6598	SMARCB1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0002076	Migraine	HP:0040282	ORPHA:99966
6598	SMARCB1	HP:0003388	Easy fatigability	36/76	OMIM:131300
6598	SMARCB1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6598	SMARCB1	HP:0011752	Neoplasm of the posterior pituitary	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0011750	Neoplasm of the anterior pituitary	HP:0040284	ORPHA:93921
6598	SMARCB1	HP:0011750	Neoplasm of the anterior pituitary	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0011730	Abnormal central sensory function	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0008163	Decreased circulating cortisol level	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0003418	Back pain	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0011937	Hypoplastic fifth toenail	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0002167	Abnormal speech pattern	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0009588	Vestibular schwannoma	0/2	OMIM:162091
6598	SMARCB1	HP:0009589	Bilateral vestibular schwannoma	-	ORPHA:93921
6598	SMARCB1	HP:0008240	Secondary growth hormone deficiency	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0008237	Hypothalamic hypothyroidism	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0010534	Transient global amnesia	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0008214	Decreased serum estradiol	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0008202	Reduced circulating prolactin concentration	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0003401	Paresthesia	HP:0040283	ORPHA:93921
6598	SMARCB1	HP:0009593	Peripheral schwannoma	HP:0040282	ORPHA:93921
6598	SMARCB1	HP:0009593	Peripheral schwannoma	2/2	OMIM:162091
6598	SMARCB1	HP:0003581	Adult onset	2/2	OMIM:162091
6598	SMARCB1	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0002209	Sparse scalp hair	4/4	OMIM:614608
6598	SMARCB1	HP:0100790	Hernia	HP:0040283	ORPHA:1465
6598	SMARCB1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:1465
6598	SMARCB1	HP:0011968	Feeding difficulties	4/4	OMIM:614608
6598	SMARCB1	HP:0010628	Facial palsy	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0003510	Severe short stature	7/7	OMIM:615777
6598	SMARCB1	HP:0008398	Hypoplastic fifth fingernail	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0002380	Fasciculations	HP:0040284	ORPHA:93921
6598	SMARCB1	HP:0001067	Neurofibroma	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0001007	Hirsutism	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0001007	Hirsutism	3/4	OMIM:614608
6598	SMARCB1	HP:0002354	Memory impairment	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0002315	Headache	-	OMIM:131300
6598	SMARCB1	HP:0002315	Headache	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0004976	Knee dislocation	6/7	OMIM:615777
6598	SMARCB1	HP:0100648	Neoplasm of the tongue	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0100661	Trigeminal neuralgia	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0010828	Hemifacial spasm	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0009803	Short phalanx of finger	-	OMIM:615777
6598	SMARCB1	HP:0001085	Papilledema	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0009763	Limb pain	63/92	OMIM:131300
6598	SMARCB1	HP:0003621	Juvenile onset	-	OMIM:131300
6598	SMARCB1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6598	SMARCB1	HP:0030521	Bitemporal hemianopia	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:99966
6598	SMARCB1	HP:0030532	Visual acuity test abnormality	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6598	SMARCB1	HP:0004227	Short distal phalanx of the 5th finger	1/1	OMIM:614608
6598	SMARCB1	HP:6001056	Out-toeing	-	OMIM:131300
6598	SMARCB1	HP:0000651	Diplopia	-	OMIM:131300
6598	SMARCB1	HP:0000618	Blindness	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0001956	Truncal obesity	2/7	OMIM:615777
6598	SMARCB1	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0001903	Anemia	HP:0040283	OMIM:131300
6598	SMARCB1	HP:0010049	Short metacarpal	-	OMIM:615777
6598	SMARCB1	HP:0012691	Focal T2 hypointense thalamic lesion	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0000696	Delayed eruption of permanent teeth	3/3	OMIM:614608
6598	SMARCB1	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0000678	Dental crowding	-	OMIM:615777
6598	SMARCB1	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0000670	Carious teeth	-	OMIM:131300
6598	SMARCB1	HP:0011304	Broad thumb	2/7	OMIM:615777
6598	SMARCB1	HP:0000668	Hypodontia	-	OMIM:615777
6598	SMARCB1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0000664	Synophrys	-	OMIM:615777
6598	SMARCB1	HP:0004322	Short stature	4/4	OMIM:614608
6598	SMARCB1	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0030680	Abnormal cardiovascular system morphology	-	OMIM:614608
6598	SMARCB1	HP:0000802	Impotence	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0004396	Poor appetite	-	OMIM:131300
6598	SMARCB1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6598	SMARCB1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6598	SMARCB1	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:99966
6598	SMARCB1	HP:0004372	Reduced consciousness	HP:0040282	ORPHA:99966
6598	SMARCB1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6598	SMARCB1	HP:0003026	Short long bone	7/7	OMIM:615777
6598	SMARCB1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6598	SMARCB1	HP:0100010	Spinal meningioma	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0100008	Schwannoma	HP:0040280	ORPHA:93921
6598	SMARCB1	HP:0100009	Intracranial meningioma	HP:0040281	ORPHA:2495
6598	SMARCB1	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1465
6598	SMARCB1	HP:0100021	Cerebral palsy	HP:0040283	ORPHA:99966
6598	SMARCB1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6598	SMARCB1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6598	SMARCB1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6598	SMARCB1	HP:0000737	Irritability	HP:0040281	ORPHA:99966
6598	SMARCB1	HP:0000750	Delayed speech and language development	-	OMIM:615777
6598	SMARCB1	HP:0000741	Apathy	HP:0040281	ORPHA:99966
6598	SMARCB1	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:1465
6598	SMARCB1	HP:0000712	Emotional lability	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1465
6598	SMARCB1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0030591	Abnormal kinetic perimetry test	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0011461	Fetal onset	7/7	OMIM:615777
6598	SMARCB1	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0000774	Narrow chest	2/7	OMIM:615777
6598	SMARCB1	HP:0030766	Ear pain	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0004408	Abnormality of the sense of smell	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0003196	Short nose	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0000926	Platyspondyly	1/7	OMIM:615777
6598	SMARCB1	HP:0003180	Flat acetabular roof	-	OMIM:615777
6598	SMARCB1	HP:0004482	Relative macrocephaly	-	OMIM:615777
6598	SMARCB1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6598	SMARCB1	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0012810	Wide nasal base	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0000823	Delayed puberty	-	OMIM:131300
6598	SMARCB1	HP:0000894	Short clavicles	-	OMIM:615777
6598	SMARCB1	HP:0009237	Short 5th finger	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0030878	Abnormality on pulmonary function testing	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6598	SMARCB1	HP:0045026	Abnormal mediastinum morphology	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0000998	Hypertrichosis	HP:0040281	ORPHA:1465
6598	SMARCB1	HP:0000998	Hypertrichosis	-	OMIM:614608
6598	SMARCB1	HP:0010302	Spinal cord tumor	HP:0040282	ORPHA:93921
6598	SMARCB1	HP:0010302	Spinal cord tumor	1/2	OMIM:162091
6598	SMARCB1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6598	SMARCB1	HP:0040171	Decreased serum testosterone concentration	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0007715	Weak extraocular muscles	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0012285	Abnormal hypothalamus physiology	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0000286	Epicanthus	1/7	OMIM:615777
6598	SMARCB1	HP:0000280	Coarse facial features	4/4	OMIM:614608
6598	SMARCB1	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1465
6598	SMARCB1	HP:0000280	Coarse facial features	2/7	OMIM:615777
6598	SMARCB1	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0000289	Broad philtrum	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:99966
6598	SMARCB1	HP:0002827	Hip dislocation	3/7	OMIM:615777
6598	SMARCB1	HP:0030084	Clinodactyly	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:99966
6598	SMARCB1	HP:0000252	Microcephaly	HP:0040284	ORPHA:1465
6598	SMARCB1	HP:0000252	Microcephaly	2/3	OMIM:614608
6598	SMARCB1	HP:0000252	Microcephaly	-	OMIM:615777
6598	SMARCB1	HP:0002884	Hepatoblastoma	HP:0040284	ORPHA:1465
6598	SMARCB1	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0000218	High palate	4/4	OMIM:614608
6598	SMARCB1	HP:0002895	Papillary thyroid carcinoma	HP:0040284	ORPHA:1465
6598	SMARCB1	HP:0002885	Medulloblastoma	-	OMIM:609322
6598	SMARCB1	HP:0002858	Meningioma	-	OMIM:162091
6598	SMARCB1	HP:0002858	Meningioma	HP:0040284	ORPHA:93921
6598	SMARCB1	HP:0002857	Genu valgum	-	OMIM:131300
6598	SMARCB1	HP:0001537	Umbilical hernia	0/4	OMIM:614608
6598	SMARCB1	HP:0001533	Slender build	-	OMIM:131300
6598	SMARCB1	HP:0001511	Intrauterine growth retardation	2/4	OMIM:614608
6598	SMARCB1	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:1465
6598	SMARCB1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6598	SMARCB1	HP:0001510	Growth delay	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0001513	Obesity	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0007807	Optic nerve compression	-	OMIM:131300
6598	SMARCB1	HP:0012368	Flat face	7/7	OMIM:615777
6598	SMARCB1	HP:0006520	Progressive pulmonary function impairment	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6598	SMARCB1	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:93921
6598	SMARCB1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0000365	Hearing impairment	10/67	OMIM:131300
6598	SMARCB1	HP:0000365	Hearing impairment	3/4	OMIM:614608
6598	SMARCB1	HP:0000360	Tinnitus	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0000360	Tinnitus	HP:0040283	ORPHA:93921
6598	SMARCB1	HP:0000343	Long philtrum	2/4	OMIM:614608
6598	SMARCB1	HP:0000343	Long philtrum	1/7	OMIM:615777
6598	SMARCB1	HP:0011001	Increased bone mineral density	-	OMIM:131300
6598	SMARCB1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1465
6598	SMARCB1	HP:0000311	Round face	2/7	OMIM:615777
6598	SMARCB1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:1465
6598	SMARCB1	HP:0001627	Abnormal heart morphology	-	OMIM:614608
6598	SMARCB1	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0001621	Weak voice	HP:0040284	ORPHA:93921
6598	SMARCB1	HP:0002970	Genu varum	-	OMIM:615777
6598	SMARCB1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1465
6598	SMARCB1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1465
6598	SMARCB1	HP:0000303	Mandibular prognathia	-	OMIM:131300
6598	SMARCB1	HP:0007924	Slow decrease in visual acuity	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0005280	Depressed nasal bridge	3/4	OMIM:614608
6598	SMARCB1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6598	SMARCB1	HP:0000486	Strabismus	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0012471	Thick vermilion border	4/4	OMIM:614608
6598	SMARCB1	HP:0011133	Increased sensitivity to ionizing radiation	HP:0040281	ORPHA:2495
6598	SMARCB1	HP:0001792	Small nail	HP:0040281	ORPHA:1465
6598	SMARCB1	HP:0000463	Anteverted nares	-	OMIM:614608
6598	SMARCB1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0000470	Short neck	1/7	OMIM:615777
6598	SMARCB1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6598	SMARCB1	HP:0001763	Pes planus	1/7	OMIM:615777
6598	SMARCB1	HP:0000445	Wide nose	4/4	OMIM:614608
6598	SMARCB1	HP:0012505	Enlarged pituitary gland	HP:0040283	ORPHA:2495
6598	SMARCB1	HP:0000518	Cataract	HP:0040283	ORPHA:93921
6598	SMARCB1	HP:0001840	Metatarsus adductus	-	OMIM:615777
6598	SMARCB1	HP:0000527	Long eyelashes	4/4	OMIM:614608
6598	SMARCB1	HP:0000520	Proptosis	2/4	OMIM:131300
6598	SMARCB1	HP:0000520	Proptosis	HP:0040284	ORPHA:2495
6598	SMARCB1	HP:0000520	Proptosis	7/7	OMIM:615777
6598	SMARCB1	HP:0000508	Ptosis	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0000508	Ptosis	3/4	OMIM:614608
6598	SMARCB1	HP:0000505	Visual impairment	2/3	OMIM:614608
6598	SMARCB1	HP:0000505	Visual impairment	HP:0040282	ORPHA:1465
6598	SMARCB1	HP:0030344	Decreased circulating luteinizing hormone level	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0030341	Decreased circulating follicle stimulating hormone concentration	HP:0040282	ORPHA:2495
6598	SMARCB1	HP:0000592	Blue sclerae	2/7	OMIM:615777
6598	SMARCB1	HP:0011231	Prominent eyelashes	HP:0040281	ORPHA:1465
6598	SMARCB1	HP:0000574	Thick eyebrow	4/4	OMIM:614608
6598	SMARCB1	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:1465
6598	SMARCB1	HP:0030392	Choroid plexus carcinoma	-	OMIM:609322
6598	SMARCB1	HP:0012523	Oral aversion	HP:0040283	ORPHA:1465
6598	SMARCB1	HP:0012531	Pain	HP:0040282	ORPHA:93921
6598	SMARCB1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6598	SMARCB1	HP:0012514	Lower limb pain	4/4	OMIM:131300
6598	SMARCB1	HP:0000545	Myopia	HP:0040283	ORPHA:1465
6599	SMARCC1	HP:0010953	Noncommunicating hydrocephalus	-	OMIM:620241
6599	SMARCC1	HP:0002410	Aqueductal stenosis	-	OMIM:620241
6599	SMARCC1	HP:0003829	Typified by incomplete penetrance	-	OMIM:620241
6599	SMARCC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620241
6599	SMARCC1	HP:0003577	Congenital onset	-	OMIM:620241
6601	SMARCC2	HP:0009928	Thick nasal alae	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0009879	Simplified gyral pattern	HP:0040283	ORPHA:1465
6601	SMARCC2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:1465
6601	SMARCC2	HP:0001250	Seizure	4/15	OMIM:618362
6601	SMARCC2	HP:0001250	Seizure	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0001252	Hypotonia	13/15	OMIM:618362
6601	SMARCC2	HP:0001249	Intellectual disability	5/5	OMIM:618362
6601	SMARCC2	HP:0001263	Global developmental delay	15/15	OMIM:618362
6601	SMARCC2	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:1465
6601	SMARCC2	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0000047	Hypospadias	HP:0040283	ORPHA:1465
6601	SMARCC2	HP:0000023	Inguinal hernia	3/15	OMIM:618362
6601	SMARCC2	HP:0000028	Cryptorchidism	2/12	OMIM:618362
6601	SMARCC2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0033725	Thin corpus callosum	2/12	OMIM:618362
6601	SMARCC2	HP:0001344	Absent speech	7/15	OMIM:618362
6601	SMARCC2	HP:0001344	Absent speech	HP:0040283	ORPHA:1465
6601	SMARCC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618362
6601	SMARCC2	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:1465
6601	SMARCC2	HP:0002650	Scoliosis	5/15	OMIM:618362
6601	SMARCC2	HP:0002650	Scoliosis	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0000179	Thick lower lip vermilion	5/15	OMIM:618362
6601	SMARCC2	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:1465
6601	SMARCC2	HP:0000154	Wide mouth	HP:0040281	ORPHA:1465
6601	SMARCC2	HP:0008947	Floppy infant	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0002719	Recurrent infections	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0002033	Poor suck	8/15	OMIM:618362
6601	SMARCC2	HP:0002059	Cerebral atrophy	2/12	OMIM:618362
6601	SMARCC2	HP:0011937	Hypoplastic fifth toenail	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0003593	Infantile onset	15/15	OMIM:618362
6601	SMARCC2	HP:0100716	Self-injurious behavior	10/15	OMIM:618362
6601	SMARCC2	HP:0002209	Sparse scalp hair	4/15	OMIM:618362
6601	SMARCC2	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0100790	Hernia	HP:0040283	ORPHA:1465
6601	SMARCC2	HP:0011968	Feeding difficulties	8/15	OMIM:618362
6601	SMARCC2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:1465
6601	SMARCC2	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0008398	Hypoplastic fifth fingernail	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0002360	Sleep abnormality	10/15	OMIM:618362
6601	SMARCC2	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0001007	Hirsutism	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0000752	Hyperactivity	10/15	OMIM:618362
6601	SMARCC2	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1465
6601	SMARCC2	HP:0000750	Delayed speech and language development	13/15	OMIM:618362
6601	SMARCC2	HP:0000718	Aggressive behavior	10/15	OMIM:618362
6601	SMARCC2	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:1465
6601	SMARCC2	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1465
6601	SMARCC2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0003196	Short nose	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0012810	Wide nasal base	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0009237	Short 5th finger	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0000998	Hypertrichosis	6/15	OMIM:618362
6601	SMARCC2	HP:0000998	Hypertrichosis	HP:0040281	ORPHA:1465
6601	SMARCC2	HP:0000964	Eczematoid dermatitis	2/15	OMIM:618362
6601	SMARCC2	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1465
6601	SMARCC2	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0000289	Broad philtrum	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0030084	Clinodactyly	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0000252	Microcephaly	HP:0040284	ORPHA:1465
6601	SMARCC2	HP:0002884	Hepatoblastoma	HP:0040284	ORPHA:1465
6601	SMARCC2	HP:0000219	Thin upper lip vermilion	6/15	OMIM:618362
6601	SMARCC2	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0002895	Papillary thyroid carcinoma	HP:0040284	ORPHA:1465
6601	SMARCC2	HP:0001508	Failure to thrive	6/15	OMIM:618362
6601	SMARCC2	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:1465
6601	SMARCC2	HP:0001510	Growth delay	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1465
6601	SMARCC2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:1465
6601	SMARCC2	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1465
6601	SMARCC2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1465
6601	SMARCC2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0000486	Strabismus	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0001792	Small nail	HP:0040281	ORPHA:1465
6601	SMARCC2	HP:0000463	Anteverted nares	6/15	OMIM:618362
6601	SMARCC2	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0000527	Long eyelashes	5/15	OMIM:618362
6601	SMARCC2	HP:0000508	Ptosis	5/15	OMIM:618362
6601	SMARCC2	HP:0000508	Ptosis	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0000505	Visual impairment	HP:0040282	ORPHA:1465
6601	SMARCC2	HP:0011231	Prominent eyelashes	HP:0040281	ORPHA:1465
6601	SMARCC2	HP:0000574	Thick eyebrow	6/15	OMIM:618362
6601	SMARCC2	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:1465
6601	SMARCC2	HP:0012523	Oral aversion	HP:0040283	ORPHA:1465
6601	SMARCC2	HP:0000545	Myopia	HP:0040283	ORPHA:1465
6602	SMARCD1	HP:0009928	Thick nasal alae	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0009909	Uplifted earlobe	2/5	OMIM:618779
6602	SMARCD1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0009879	Simplified gyral pattern	HP:0040283	ORPHA:1465
6602	SMARCD1	HP:0001274	Agenesis of corpus callosum	1/5	OMIM:618779
6602	SMARCD1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:1465
6602	SMARCD1	HP:0001250	Seizure	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0001252	Hypotonia	3/5	OMIM:618779
6602	SMARCD1	HP:0001249	Intellectual disability	4/4	OMIM:618779
6602	SMARCD1	HP:0001263	Global developmental delay	5/5	OMIM:618779
6602	SMARCD1	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:1465
6602	SMARCD1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0000047	Hypospadias	HP:0040283	ORPHA:1465
6602	SMARCD1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0008872	Feeding difficulties in infancy	5/5	OMIM:618779
6602	SMARCD1	HP:0001344	Absent speech	HP:0040283	ORPHA:1465
6602	SMARCD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618779
6602	SMARCD1	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:1465
6602	SMARCD1	HP:0002650	Scoliosis	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0000185	Cleft soft palate	1/5	OMIM:618779
6602	SMARCD1	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:1465
6602	SMARCD1	HP:0000193	Bifid uvula	1/5	OMIM:618779
6602	SMARCD1	HP:0000154	Wide mouth	1/5	OMIM:618779
6602	SMARCD1	HP:0000154	Wide mouth	HP:0040281	ORPHA:1465
6602	SMARCD1	HP:0008947	Floppy infant	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0002719	Recurrent infections	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0002714	Downturned corners of mouth	1/5	OMIM:618779
6602	SMARCD1	HP:0002032	Esophageal atresia	1/5	OMIM:618779
6602	SMARCD1	HP:0002007	Frontal bossing	1/5	OMIM:618779
6602	SMARCD1	HP:0011937	Hypoplastic fifth toenail	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0002162	Low posterior hairline	2/5	OMIM:618779
6602	SMARCD1	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0100790	Hernia	HP:0040283	ORPHA:1465
6602	SMARCD1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:1465
6602	SMARCD1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0008398	Hypoplastic fifth fingernail	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0001007	Hirsutism	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0200055	Small hand	3/5	OMIM:618779
6602	SMARCD1	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0031936	Delayed ability to walk	4/5	OMIM:618779
6602	SMARCD1	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1465
6602	SMARCD1	HP:0000750	Delayed speech and language development	4/4	OMIM:618779
6602	SMARCD1	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:1465
6602	SMARCD1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1465
6602	SMARCD1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0003196	Short nose	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0012810	Wide nasal base	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0009237	Short 5th finger	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0000998	Hypertrichosis	HP:0040281	ORPHA:1465
6602	SMARCD1	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1465
6602	SMARCD1	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0000289	Broad philtrum	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0030084	Clinodactyly	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0000252	Microcephaly	HP:0040284	ORPHA:1465
6602	SMARCD1	HP:0002884	Hepatoblastoma	HP:0040284	ORPHA:1465
6602	SMARCD1	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0000218	High palate	2/5	OMIM:618779
6602	SMARCD1	HP:0002895	Papillary thyroid carcinoma	HP:0040284	ORPHA:1465
6602	SMARCD1	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:1465
6602	SMARCD1	HP:0001510	Growth delay	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0000341	Narrow forehead	1/5	OMIM:618779
6602	SMARCD1	HP:0000316	Hypertelorism	1/5	OMIM:618779
6602	SMARCD1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1465
6602	SMARCD1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:1465
6602	SMARCD1	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1465
6602	SMARCD1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1465
6602	SMARCD1	HP:0005280	Depressed nasal bridge	1/5	OMIM:618779
6602	SMARCD1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0000486	Strabismus	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0001792	Small nail	HP:0040281	ORPHA:1465
6602	SMARCD1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0000414	Bulbous nose	1/5	OMIM:618779
6602	SMARCD1	HP:0005487	Prominent metopic ridge	1/5	OMIM:618779
6602	SMARCD1	HP:0000508	Ptosis	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0000505	Visual impairment	HP:0040282	ORPHA:1465
6602	SMARCD1	HP:0011231	Prominent eyelashes	HP:0040281	ORPHA:1465
6602	SMARCD1	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:1465
6602	SMARCD1	HP:0012523	Oral aversion	HP:0040283	ORPHA:1465
6602	SMARCD1	HP:0000545	Myopia	HP:0040283	ORPHA:1465
6603	SMARCD2	HP:0001156	Brachydactyly	1/3	OMIM:617475
6603	SMARCD2	HP:0020206	Simple ear	1/4	OMIM:617475
6603	SMARCD2	HP:0100806	Sepsis	4/4	OMIM:617475
6603	SMARCD2	HP:0001263	Global developmental delay	2/4	OMIM:617475
6603	SMARCD2	HP:0033606	Bone marrow maturation arrest	4/4	OMIM:617475
6603	SMARCD2	HP:0003819	Death in childhood	1/4	OMIM:617475
6603	SMARCD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617475
6603	SMARCD2	HP:0032434	Delayed umbilical cord separation	4/4	OMIM:617475
6603	SMARCD2	HP:0032435	Neonatal omphalitis	1/4	OMIM:617475
6603	SMARCD2	HP:0002718	Recurrent bacterial infections	-	OMIM:617475
6603	SMARCD2	HP:0002041	Intractable diarrhea	4/4	OMIM:617475
6603	SMARCD2	HP:0002164	Nail dysplasia	2/3	OMIM:617475
6603	SMARCD2	HP:0003577	Congenital onset	-	OMIM:617475
6603	SMARCD2	HP:0001007	Hirsutism	2/3	OMIM:617475
6603	SMARCD2	HP:0001903	Anemia	2/4	OMIM:617475
6603	SMARCD2	HP:0000698	Conical tooth	2/2	OMIM:617475
6603	SMARCD2	HP:0000692	Tooth malposition	2/2	OMIM:617475
6603	SMARCD2	HP:0000705	Amelogenesis imperfecta	2/2	OMIM:617475
6603	SMARCD2	HP:0000974	Hyperextensible skin	1/3	OMIM:617475
6603	SMARCD2	HP:0000956	Acanthosis nigricans	1/3	OMIM:617475
6603	SMARCD2	HP:0000938	Osteopenia	1/3	OMIM:617475
6603	SMARCD2	HP:0001522	Death in infancy	1/4	OMIM:617475
6603	SMARCD2	HP:0002863	Myelodysplasia	-	OMIM:617475
6603	SMARCD2	HP:0001508	Failure to thrive	4/4	OMIM:617475
6603	SMARCD2	HP:0000377	Abnormal pinna morphology	1/4	OMIM:617475
6603	SMARCD2	HP:0006532	Recurrent pneumonia	4/4	OMIM:617475
6603	SMARCD2	HP:0000358	Posteriorly rotated ears	1/4	OMIM:617475
6603	SMARCD2	HP:0000369	Low-set ears	11/14	OMIM:617475
6603	SMARCD2	HP:0000403	Recurrent otitis media	2/4	OMIM:617475
6603	SMARCD2	HP:0001852	Sandal gap	2/3	OMIM:617475
6603	SMARCD2	HP:0001808	Fragile nails	1/3	OMIM:617475
6603	SMARCD2	HP:0012551	Absent neutrophil specific granules	4/4	OMIM:617475
6603	SMARCD2	HP:0001873	Thrombocytopenia	1/4	OMIM:617475
6603	SMARCD2	HP:0001875	Decreased total neutrophil count	4/4	OMIM:617475
6605	SMARCE1	HP:0001166	Arachnodactyly	-	OMIM:616938
6605	SMARCE1	HP:0009928	Thick nasal alae	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0009928	Thick nasal alae	-	OMIM:616938
6605	SMARCE1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0009882	Short distal phalanx of finger	-	OMIM:616938
6605	SMARCE1	HP:0009879	Simplified gyral pattern	HP:0040283	ORPHA:1465
6605	SMARCE1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6605	SMARCE1	HP:0001293	Cranial nerve compression	-	OMIM:131300
6605	SMARCE1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:1465
6605	SMARCE1	HP:0001269	Hemiparesis	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0001279	Syncope	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0001250	Seizure	HP:0040283	OMIM:616938
6605	SMARCE1	HP:0001250	Seizure	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0001250	Seizure	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0001252	Hypotonia	2/7	OMIM:615777
6605	SMARCE1	HP:0001251	Ataxia	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0001249	Intellectual disability	-	OMIM:616938
6605	SMARCE1	HP:0001249	Intellectual disability	5/7	OMIM:615777
6605	SMARCE1	HP:0001263	Global developmental delay	-	OMIM:616938
6605	SMARCE1	HP:0001263	Global developmental delay	-	OMIM:615777
6605	SMARCE1	HP:0001262	Excessive daytime somnolence	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0010997	Chromosomal breakage induced by ionizing radiation	HP:0040281	ORPHA:2495
6605	SMARCE1	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0002515	Waddling gait	54/102	OMIM:131300
6605	SMARCE1	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0002512	Brain stem compression	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0003829	Typified by incomplete penetrance	-	OMIM:607174
6605	SMARCE1	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:1465
6605	SMARCE1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0001382	Joint hypermobility	-	OMIM:615777
6605	SMARCE1	HP:0000047	Hypospadias	HP:0040283	ORPHA:1465
6605	SMARCE1	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6605	SMARCE1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6605	SMARCE1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6605	SMARCE1	HP:0001324	Muscle weakness	40/96	OMIM:131300
6605	SMARCE1	HP:0001342	Cerebral hemorrhage	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0001344	Absent speech	-	OMIM:616938
6605	SMARCE1	HP:0001344	Absent speech	HP:0040283	ORPHA:1465
6605	SMARCE1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6605	SMARCE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6605	SMARCE1	HP:0000006	Autosomal dominant inheritance	-	OMIM:607174
6605	SMARCE1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616938
6605	SMARCE1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6605	SMARCE1	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:1465
6605	SMARCE1	HP:0001305	Dandy-Walker malformation	-	OMIM:616938
6605	SMARCE1	HP:0002650	Scoliosis	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0002650	Scoliosis	12/14	OMIM:131300
6605	SMARCE1	HP:0001321	Cerebellar hypoplasia	-	OMIM:616938
6605	SMARCE1	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6605	SMARCE1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6605	SMARCE1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6605	SMARCE1	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:1465
6605	SMARCE1	HP:0000179	Thick lower lip vermilion	-	OMIM:616938
6605	SMARCE1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6605	SMARCE1	HP:0000175	Cleft palate	2/7	OMIM:615777
6605	SMARCE1	HP:0000141	Amenorrhea	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0000154	Wide mouth	-	OMIM:616938
6605	SMARCE1	HP:0000154	Wide mouth	HP:0040281	ORPHA:1465
6605	SMARCE1	HP:0008947	Floppy infant	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0002719	Recurrent infections	-	OMIM:616938
6605	SMARCE1	HP:0002719	Recurrent infections	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:616938
6605	SMARCE1	HP:0003388	Easy fatigability	36/76	OMIM:131300
6605	SMARCE1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6605	SMARCE1	HP:0011752	Neoplasm of the posterior pituitary	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0011750	Neoplasm of the anterior pituitary	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0011730	Abnormal central sensory function	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0008163	Decreased circulating cortisol level	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0003418	Back pain	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0011937	Hypoplastic fifth toenail	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0002167	Abnormal speech pattern	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0008240	Secondary growth hormone deficiency	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0008237	Hypothalamic hypothyroidism	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0010534	Transient global amnesia	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0008214	Decreased serum estradiol	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0008202	Reduced circulating prolactin concentration	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0003581	Adult onset	-	OMIM:607174
6605	SMARCE1	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0002209	Sparse scalp hair	-	OMIM:616938
6605	SMARCE1	HP:0100790	Hernia	HP:0040283	ORPHA:1465
6605	SMARCE1	HP:0011968	Feeding difficulties	-	OMIM:616938
6605	SMARCE1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:1465
6605	SMARCE1	HP:0010628	Facial palsy	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0003510	Severe short stature	7/7	OMIM:615777
6605	SMARCE1	HP:0008398	Hypoplastic fifth fingernail	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0001067	Neurofibroma	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0001007	Hirsutism	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0002354	Memory impairment	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0002315	Headache	-	OMIM:131300
6605	SMARCE1	HP:0002315	Headache	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0004976	Knee dislocation	6/7	OMIM:615777
6605	SMARCE1	HP:0100648	Neoplasm of the tongue	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0100661	Trigeminal neuralgia	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0010828	Hemifacial spasm	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0009803	Short phalanx of finger	-	OMIM:615777
6605	SMARCE1	HP:0001085	Papilledema	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0009763	Limb pain	63/92	OMIM:131300
6605	SMARCE1	HP:0003621	Juvenile onset	-	OMIM:131300
6605	SMARCE1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6605	SMARCE1	HP:0030521	Bitemporal hemianopia	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0030532	Visual acuity test abnormality	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6605	SMARCE1	HP:6001056	Out-toeing	-	OMIM:131300
6605	SMARCE1	HP:0000651	Diplopia	-	OMIM:131300
6605	SMARCE1	HP:0000618	Blindness	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0001956	Truncal obesity	2/7	OMIM:615777
6605	SMARCE1	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0001903	Anemia	HP:0040283	OMIM:131300
6605	SMARCE1	HP:0010049	Short metacarpal	-	OMIM:615777
6605	SMARCE1	HP:0012691	Focal T2 hypointense thalamic lesion	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0000678	Dental crowding	-	OMIM:615777
6605	SMARCE1	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0000670	Carious teeth	-	OMIM:131300
6605	SMARCE1	HP:0011304	Broad thumb	2/7	OMIM:615777
6605	SMARCE1	HP:0000668	Hypodontia	-	OMIM:615777
6605	SMARCE1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0000664	Synophrys	-	OMIM:615777
6605	SMARCE1	HP:0004322	Short stature	-	OMIM:616938
6605	SMARCE1	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0000802	Impotence	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0004396	Poor appetite	-	OMIM:131300
6605	SMARCE1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6605	SMARCE1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6605	SMARCE1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6605	SMARCE1	HP:0003026	Short long bone	7/7	OMIM:615777
6605	SMARCE1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6605	SMARCE1	HP:0100010	Spinal meningioma	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0100009	Intracranial meningioma	HP:0040281	ORPHA:2495
6605	SMARCE1	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1465
6605	SMARCE1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6605	SMARCE1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6605	SMARCE1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6605	SMARCE1	HP:0000750	Delayed speech and language development	-	OMIM:615777
6605	SMARCE1	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:1465
6605	SMARCE1	HP:0000712	Emotional lability	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1465
6605	SMARCE1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0030591	Abnormal kinetic perimetry test	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0011461	Fetal onset	7/7	OMIM:615777
6605	SMARCE1	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0000774	Narrow chest	2/7	OMIM:615777
6605	SMARCE1	HP:0030766	Ear pain	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0004408	Abnormality of the sense of smell	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0003196	Short nose	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0000926	Platyspondyly	1/7	OMIM:615777
6605	SMARCE1	HP:0003180	Flat acetabular roof	-	OMIM:615777
6605	SMARCE1	HP:0004482	Relative macrocephaly	-	OMIM:615777
6605	SMARCE1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6605	SMARCE1	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0012810	Wide nasal base	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0000823	Delayed puberty	-	OMIM:131300
6605	SMARCE1	HP:0000894	Short clavicles	-	OMIM:615777
6605	SMARCE1	HP:0009237	Short 5th finger	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0030878	Abnormality on pulmonary function testing	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6605	SMARCE1	HP:0045026	Abnormal mediastinum morphology	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0000998	Hypertrichosis	HP:0040281	ORPHA:1465
6605	SMARCE1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6605	SMARCE1	HP:0040171	Decreased serum testosterone concentration	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0007715	Weak extraocular muscles	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0012285	Abnormal hypothalamus physiology	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0000286	Epicanthus	1/7	OMIM:615777
6605	SMARCE1	HP:0000280	Coarse facial features	-	OMIM:616938
6605	SMARCE1	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1465
6605	SMARCE1	HP:0000280	Coarse facial features	2/7	OMIM:615777
6605	SMARCE1	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0000294	Low anterior hairline	-	OMIM:616938
6605	SMARCE1	HP:0000289	Broad philtrum	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0002827	Hip dislocation	3/7	OMIM:615777
6605	SMARCE1	HP:0030084	Clinodactyly	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0000252	Microcephaly	-	OMIM:616938
6605	SMARCE1	HP:0000252	Microcephaly	HP:0040284	ORPHA:1465
6605	SMARCE1	HP:0000252	Microcephaly	-	OMIM:615777
6605	SMARCE1	HP:0002884	Hepatoblastoma	HP:0040284	ORPHA:1465
6605	SMARCE1	HP:0000219	Thin upper lip vermilion	-	OMIM:616938
6605	SMARCE1	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0002895	Papillary thyroid carcinoma	HP:0040284	ORPHA:1465
6605	SMARCE1	HP:0002858	Meningioma	-	OMIM:607174
6605	SMARCE1	HP:0002857	Genu valgum	-	OMIM:131300
6605	SMARCE1	HP:0001533	Slender build	-	OMIM:131300
6605	SMARCE1	HP:0001511	Intrauterine growth retardation	-	OMIM:616938
6605	SMARCE1	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:1465
6605	SMARCE1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6605	SMARCE1	HP:0001510	Growth delay	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0001513	Obesity	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0007807	Optic nerve compression	-	OMIM:131300
6605	SMARCE1	HP:0012368	Flat face	7/7	OMIM:615777
6605	SMARCE1	HP:0006520	Progressive pulmonary function impairment	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6605	SMARCE1	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0000365	Hearing impairment	10/67	OMIM:131300
6605	SMARCE1	HP:0000360	Tinnitus	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0000343	Long philtrum	1/7	OMIM:615777
6605	SMARCE1	HP:0011001	Increased bone mineral density	-	OMIM:131300
6605	SMARCE1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1465
6605	SMARCE1	HP:0000311	Round face	2/7	OMIM:615777
6605	SMARCE1	HP:0000322	Short philtrum	-	OMIM:616938
6605	SMARCE1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:1465
6605	SMARCE1	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0002970	Genu varum	-	OMIM:615777
6605	SMARCE1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1465
6605	SMARCE1	HP:0001631	Atrial septal defect	-	OMIM:616938
6605	SMARCE1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1465
6605	SMARCE1	HP:0000303	Mandibular prognathia	-	OMIM:131300
6605	SMARCE1	HP:0007924	Slow decrease in visual acuity	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0005280	Depressed nasal bridge	-	OMIM:616938
6605	SMARCE1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6605	SMARCE1	HP:0000486	Strabismus	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0011133	Increased sensitivity to ionizing radiation	HP:0040281	ORPHA:2495
6605	SMARCE1	HP:0001792	Small nail	HP:0040281	ORPHA:1465
6605	SMARCE1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0000470	Short neck	1/7	OMIM:615777
6605	SMARCE1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6605	SMARCE1	HP:0001763	Pes planus	1/7	OMIM:615777
6605	SMARCE1	HP:0000445	Wide nose	-	OMIM:616938
6605	SMARCE1	HP:0012505	Enlarged pituitary gland	HP:0040283	ORPHA:2495
6605	SMARCE1	HP:0001840	Metatarsus adductus	-	OMIM:615777
6605	SMARCE1	HP:0000527	Long eyelashes	-	OMIM:616938
6605	SMARCE1	HP:0001852	Sandal gap	-	OMIM:616938
6605	SMARCE1	HP:0000520	Proptosis	2/4	OMIM:131300
6605	SMARCE1	HP:0000520	Proptosis	HP:0040284	ORPHA:2495
6605	SMARCE1	HP:0000520	Proptosis	7/7	OMIM:615777
6605	SMARCE1	HP:0000508	Ptosis	-	OMIM:616938
6605	SMARCE1	HP:0000508	Ptosis	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0000505	Visual impairment	HP:0040282	ORPHA:1465
6605	SMARCE1	HP:0001800	Hypoplastic toenails	-	OMIM:616938
6605	SMARCE1	HP:0001810	Dystrophic toenail	-	OMIM:616938
6605	SMARCE1	HP:0030344	Decreased circulating luteinizing hormone level	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0030341	Decreased circulating follicle stimulating hormone concentration	HP:0040282	ORPHA:2495
6605	SMARCE1	HP:0000592	Blue sclerae	2/7	OMIM:615777
6605	SMARCE1	HP:0011231	Prominent eyelashes	HP:0040281	ORPHA:1465
6605	SMARCE1	HP:0000574	Thick eyebrow	-	OMIM:616938
6605	SMARCE1	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:1465
6605	SMARCE1	HP:0012523	Oral aversion	HP:0040283	ORPHA:1465
6605	SMARCE1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6605	SMARCE1	HP:0012514	Lower limb pain	4/4	OMIM:131300
6605	SMARCE1	HP:0000545	Myopia	HP:0040283	ORPHA:1465
6606	SMN1	HP:0007289	Limb fasciculations	-	OMIM:253400
6606	SMN1	HP:0007269	Spinal muscular atrophy	-	OMIM:271150
6606	SMN1	HP:0007269	Spinal muscular atrophy	-	OMIM:253300
6606	SMN1	HP:0007269	Spinal muscular atrophy	-	OMIM:253400
6606	SMN1	HP:0007269	Spinal muscular atrophy	-	OMIM:253550
6606	SMN1	HP:0002421	Poor head control	-	OMIM:253300
6606	SMN1	HP:0003749	Pelvic girdle muscle weakness	2/2	OMIM:253400
6606	SMN1	HP:0003724	Shoulder girdle muscle atrophy	1/2	OMIM:253400
6606	SMN1	HP:0003701	Proximal muscle weakness	6/6	OMIM:271150
6606	SMN1	HP:0003701	Proximal muscle weakness	2/2	OMIM:253400
6606	SMN1	HP:0003713	Muscle fiber necrosis	1/1	OMIM:271150
6606	SMN1	HP:0001290	Generalized hypotonia	-	OMIM:253300
6606	SMN1	HP:0001284	Areflexia	-	OMIM:253300
6606	SMN1	HP:0001265	Hyporeflexia	-	OMIM:253400
6606	SMN1	HP:0007340	Lower limb muscle weakness	2/2	OMIM:253400
6606	SMN1	HP:0002515	Waddling gait	3/6	OMIM:271150
6606	SMN1	HP:0002522	Areflexia of lower limbs	-	OMIM:271150
6606	SMN1	HP:0002505	Loss of ambulation	1/2	OMIM:253400
6606	SMN1	HP:0003805	Rimmed vacuoles	1/1	OMIM:271150
6606	SMN1	HP:0003803	Type 1 muscle fiber predominance	1/1	OMIM:271150
6606	SMN1	HP:0003819	Death in childhood	-	OMIM:253300
6606	SMN1	HP:0001324	Muscle weakness	-	OMIM:253550
6606	SMN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:253400
6606	SMN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:253300
6606	SMN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:271150
6606	SMN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:253550
6606	SMN1	HP:0001308	Tongue fasciculations	5/6	OMIM:271150
6606	SMN1	HP:0001308	Tongue fasciculations	-	OMIM:253400
6606	SMN1	HP:0001308	Tongue fasciculations	-	OMIM:253550
6606	SMN1	HP:0001308	Tongue fasciculations	-	OMIM:253300
6606	SMN1	HP:0008994	Proximal muscle weakness in lower limbs	-	OMIM:253300
6606	SMN1	HP:0008981	Calf muscle hypertrophy	3/6	OMIM:271150
6606	SMN1	HP:0008946	Pelvic girdle amyotrophy	2/2	OMIM:253400
6606	SMN1	HP:0008956	Proximal lower limb amyotrophy	2/2	OMIM:253400
6606	SMN1	HP:0002093	Respiratory insufficiency	-	OMIM:253300
6606	SMN1	HP:0003394	Muscle spasm	1/2	OMIM:253400
6606	SMN1	HP:0003457	EMG abnormality	-	OMIM:253550
6606	SMN1	HP:0003444	EMG: chronic denervation signs	2/2	OMIM:253400
6606	SMN1	HP:0003445	EMG: neuropathic changes	-	OMIM:271150
6606	SMN1	HP:0003445	EMG: neuropathic changes	-	OMIM:253300
6606	SMN1	HP:0003438	Absent Achilles reflex	2/2	OMIM:253400
6606	SMN1	HP:0003593	Infantile onset	50/66	OMIM:253300
6606	SMN1	HP:0003547	Shoulder girdle muscle weakness	2/2	OMIM:253400
6606	SMN1	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:271150
6606	SMN1	HP:0002205	Recurrent respiratory infections	-	OMIM:253550
6606	SMN1	HP:0002205	Recurrent respiratory infections	-	OMIM:253300
6606	SMN1	HP:0002398	Degeneration of anterior horn cells	-	OMIM:253550
6606	SMN1	HP:0002398	Degeneration of anterior horn cells	-	OMIM:271150
6606	SMN1	HP:0002398	Degeneration of anterior horn cells	-	OMIM:253400
6606	SMN1	HP:0003693	Distal amyotrophy	1/2	OMIM:253400
6606	SMN1	HP:0002378	Hand tremor	5/6	OMIM:271150
6606	SMN1	HP:0002378	Hand tremor	-	OMIM:253400
6606	SMN1	HP:0002378	Hand tremor	-	OMIM:253550
6606	SMN1	HP:0003676	Progressive	-	OMIM:253400
6606	SMN1	HP:0003687	Centrally nucleated skeletal muscle fibers	1/1	OMIM:271150
6606	SMN1	HP:0003677	Slowly progressive	-	OMIM:271150
6606	SMN1	HP:0007126	Proximal amyotrophy	-	OMIM:271150
6606	SMN1	HP:0007126	Proximal amyotrophy	-	OMIM:253300
6606	SMN1	HP:0003623	Neonatal onset	16/66	OMIM:253300
6606	SMN1	HP:0003621	Juvenile onset	1/2	OMIM:253400
6606	SMN1	HP:0006844	Absent patellar reflexes	2/2	OMIM:253400
6606	SMN1	HP:0034045	Angulated muscle fibers	1/1	OMIM:271150
6606	SMN1	HP:0009050	Quadriceps muscle atrophy	5/6	OMIM:271150
6606	SMN1	HP:0011462	Young adult onset	6/6	OMIM:271150
6606	SMN1	HP:0003202	Skeletal muscle atrophy	-	OMIM:253550
6606	SMN1	HP:0002878	Respiratory failure	-	OMIM:253300
6606	SMN1	HP:0001558	Decreased fetal movement	22/66	OMIM:253300
6606	SMN1	HP:0001629	Ventricular septal defect	-	OMIM:253300
6606	SMN1	HP:0001631	Atrial septal defect	-	OMIM:253300
6606	SMN1	HP:0025708	Early young adult onset	1/2	OMIM:253400
6607	SMN2	HP:0007289	Limb fasciculations	-	OMIM:253400
6607	SMN2	HP:0007269	Spinal muscular atrophy	-	OMIM:253400
6607	SMN2	HP:0003749	Pelvic girdle muscle weakness	2/2	OMIM:253400
6607	SMN2	HP:0003724	Shoulder girdle muscle atrophy	1/2	OMIM:253400
6607	SMN2	HP:0003701	Proximal muscle weakness	2/2	OMIM:253400
6607	SMN2	HP:0001265	Hyporeflexia	-	OMIM:253400
6607	SMN2	HP:0007340	Lower limb muscle weakness	2/2	OMIM:253400
6607	SMN2	HP:0002505	Loss of ambulation	1/2	OMIM:253400
6607	SMN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:253400
6607	SMN2	HP:0001308	Tongue fasciculations	-	OMIM:253400
6607	SMN2	HP:0008946	Pelvic girdle amyotrophy	2/2	OMIM:253400
6607	SMN2	HP:0008956	Proximal lower limb amyotrophy	2/2	OMIM:253400
6607	SMN2	HP:0003394	Muscle spasm	1/2	OMIM:253400
6607	SMN2	HP:0003444	EMG: chronic denervation signs	2/2	OMIM:253400
6607	SMN2	HP:0003438	Absent Achilles reflex	2/2	OMIM:253400
6607	SMN2	HP:0003547	Shoulder girdle muscle weakness	2/2	OMIM:253400
6607	SMN2	HP:0002398	Degeneration of anterior horn cells	-	OMIM:253400
6607	SMN2	HP:0003693	Distal amyotrophy	1/2	OMIM:253400
6607	SMN2	HP:0002378	Hand tremor	-	OMIM:253400
6607	SMN2	HP:0003676	Progressive	-	OMIM:253400
6607	SMN2	HP:0003621	Juvenile onset	1/2	OMIM:253400
6607	SMN2	HP:0006844	Absent patellar reflexes	2/2	OMIM:253400
6607	SMN2	HP:0025708	Early young adult onset	1/2	OMIM:253400
6608	SMO	HP:0001177	Preaxial hand polydactyly	1/10	OMIM:601707
6608	SMO	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:1553
6608	SMO	HP:0001162	Postaxial hand polydactyly	1/2	OMIM:241800
6608	SMO	HP:0002444	Hypothalamic hamartoma	2/2	OMIM:241800
6608	SMO	HP:0002436	Occipital meningocele	1/10	OMIM:601707
6608	SMO	HP:0009942	Duplication of thumb phalanx	3/10	OMIM:601707
6608	SMO	HP:0009890	High anterior hairline	1/10	OMIM:601707
6608	SMO	HP:0100806	Sepsis	HP:0040283	ORPHA:388
6608	SMO	HP:0001274	Agenesis of corpus callosum	7/10	OMIM:601707
6608	SMO	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:1553
6608	SMO	HP:0001269	Hemiparesis	HP:0040283	ORPHA:2495
6608	SMO	HP:0001288	Gait disturbance	HP:0040283	ORPHA:2495
6608	SMO	HP:0001279	Syncope	HP:0040284	ORPHA:2495
6608	SMO	HP:0001250	Seizure	HP:0040282	ORPHA:2495
6608	SMO	HP:0001251	Ataxia	HP:0040283	ORPHA:2495
6608	SMO	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1553
6608	SMO	HP:0001263	Global developmental delay	8/10	OMIM:601707
6608	SMO	HP:0001262	Excessive daytime somnolence	HP:0040284	ORPHA:2495
6608	SMO	HP:0002566	Intestinal malrotation	4/10	OMIM:601707
6608	SMO	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:1553
6608	SMO	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:1553
6608	SMO	HP:0010997	Chromosomal breakage induced by ionizing radiation	HP:0040281	ORPHA:2495
6608	SMO	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:2495
6608	SMO	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:2495
6608	SMO	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:2495
6608	SMO	HP:0002512	Brain stem compression	HP:0040284	ORPHA:2495
6608	SMO	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:2495
6608	SMO	HP:0000054	Micropenis	-	OMIM:241800
6608	SMO	HP:0001355	Megalencephaly	1/10	OMIM:601707
6608	SMO	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:2495
6608	SMO	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:1553
6608	SMO	HP:0001342	Cerebral hemorrhage	HP:0040284	ORPHA:2495
6608	SMO	HP:0002671	Basal cell carcinoma	-	OMIM:605462
6608	SMO	HP:0000007	Autosomal recessive inheritance	-	OMIM:241800
6608	SMO	HP:0002652	Skeletal dysplasia	-	OMIM:241800
6608	SMO	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:2495
6608	SMO	HP:0002645	Wormian bones	1/10	OMIM:601707
6608	SMO	HP:0025480	Lipomyelomeningocele	1/10	OMIM:601707
6608	SMO	HP:0000161	Median cleft upper lip	-	OMIM:241800
6608	SMO	HP:0000175	Cleft palate	-	OMIM:241800
6608	SMO	HP:0000171	Microglossia	-	OMIM:241800
6608	SMO	HP:0000141	Amenorrhea	HP:0040282	ORPHA:2495
6608	SMO	HP:0032612	Triphalangeal hallux	1/10	OMIM:601707
6608	SMO	HP:0000110	Renal dysplasia	-	OMIM:241800
6608	SMO	HP:0001442	Typified by somatic mosaicism	-	OMIM:601707
6608	SMO	HP:0002025	Anal stenosis	-	OMIM:601707
6608	SMO	HP:0002019	Constipation	HP:0040281	ORPHA:388
6608	SMO	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:388
6608	SMO	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:2495
6608	SMO	HP:0002027	Abdominal pain	HP:0040281	ORPHA:388
6608	SMO	HP:0002014	Diarrhea	HP:0040283	ORPHA:388
6608	SMO	HP:0002089	Pulmonary hypoplasia	-	OMIM:241800
6608	SMO	HP:0002085	Occipital encephalocele	-	OMIM:241800
6608	SMO	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2495
6608	SMO	HP:0011752	Neoplasm of the posterior pituitary	HP:0040284	ORPHA:2495
6608	SMO	HP:0011750	Neoplasm of the anterior pituitary	HP:0040283	ORPHA:2495
6608	SMO	HP:0011730	Abnormal central sensory function	HP:0040283	ORPHA:2495
6608	SMO	HP:0008163	Decreased circulating cortisol level	HP:0040282	ORPHA:2495
6608	SMO	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:2495
6608	SMO	HP:0002119	Ventriculomegaly	6/10	OMIM:601707
6608	SMO	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:1553
6608	SMO	HP:0002126	Polymicrogyria	2/10	OMIM:601707
6608	SMO	HP:0003418	Back pain	HP:0040284	ORPHA:2495
6608	SMO	HP:0009602	Abnormality of thumb phalanx	HP:0040282	ORPHA:1553
6608	SMO	HP:6000224	Delayed passage of meconium	HP:0040282	ORPHA:388
6608	SMO	HP:0002167	Abnormal speech pattern	HP:0040284	ORPHA:2495
6608	SMO	HP:0008240	Secondary growth hormone deficiency	HP:0040282	ORPHA:2495
6608	SMO	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:2495
6608	SMO	HP:0008237	Hypothalamic hypothyroidism	HP:0040283	ORPHA:2495
6608	SMO	HP:0010534	Transient global amnesia	HP:0040284	ORPHA:2495
6608	SMO	HP:0008214	Decreased serum estradiol	HP:0040282	ORPHA:2495
6608	SMO	HP:0008202	Reduced circulating prolactin concentration	HP:0040283	ORPHA:2495
6608	SMO	HP:0003577	Congenital onset	2/2	OMIM:241800
6608	SMO	HP:0003577	Congenital onset	10/10	OMIM:601707
6608	SMO	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:388
6608	SMO	HP:0002230	Generalized hirsutism	HP:0040282	ORPHA:1553
6608	SMO	HP:0009733	Glioma	-	OMIM:241800
6608	SMO	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:388
6608	SMO	HP:0010628	Facial palsy	HP:0040283	ORPHA:2495
6608	SMO	HP:0007099	Chiari type I malformation	2/10	OMIM:601707
6608	SMO	HP:0007099	Chiari type I malformation	1/2	OMIM:241800
6608	SMO	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:1553
6608	SMO	HP:0001067	Neurofibroma	HP:0040283	ORPHA:2495
6608	SMO	HP:0001007	Hirsutism	1/10	OMIM:601707
6608	SMO	HP:0002354	Memory impairment	HP:0040283	ORPHA:2495
6608	SMO	HP:0002315	Headache	HP:0040282	ORPHA:2495
6608	SMO	HP:0100648	Neoplasm of the tongue	HP:0040284	ORPHA:2495
6608	SMO	HP:0007206	Hemimegalencephaly	3/10	OMIM:601707
6608	SMO	HP:0100661	Trigeminal neuralgia	HP:0040283	ORPHA:2495
6608	SMO	HP:0010828	Hemifacial spasm	HP:0040284	ORPHA:2495
6608	SMO	HP:0010820	Focal emotional seizure with crying	1/2	OMIM:241800
6608	SMO	HP:0010815	Nevus sebaceous	1/10	OMIM:601707
6608	SMO	HP:0001085	Papilledema	HP:0040283	ORPHA:2495
6608	SMO	HP:0009779	3-4 toe syndactyly	3/10	OMIM:601707
6608	SMO	HP:0034754	Bilious emesis	HP:0040282	ORPHA:388
6608	SMO	HP:0030521	Bitemporal hemianopia	HP:0040282	ORPHA:2495
6608	SMO	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:2495
6608	SMO	HP:0030532	Visual acuity test abnormality	HP:0040283	ORPHA:2495
6608	SMO	HP:0000646	Amblyopia	1/10	OMIM:601707
6608	SMO	HP:0000618	Blindness	HP:0040284	ORPHA:2495
6608	SMO	HP:0000612	Iris coloboma	4/10	OMIM:601707
6608	SMO	HP:0000612	Iris coloboma	HP:0040283	ORPHA:1553
6608	SMO	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2495
6608	SMO	HP:0012691	Focal T2 hypointense thalamic lesion	HP:0040282	ORPHA:2495
6608	SMO	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:2495
6608	SMO	HP:0011318	Bicoronal synostosis	1/10	OMIM:601707
6608	SMO	HP:0011315	Unicoronal synostosis	4/10	OMIM:601707
6608	SMO	HP:0011304	Broad thumb	2/10	OMIM:601707
6608	SMO	HP:0011304	Broad thumb	HP:0040282	ORPHA:1553
6608	SMO	HP:0004322	Short stature	HP:0040283	ORPHA:388
6608	SMO	HP:0004322	Short stature	1/2	OMIM:241800
6608	SMO	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:2495
6608	SMO	HP:0030680	Abnormal cardiovascular system morphology	-	OMIM:241800
6608	SMO	HP:0000802	Impotence	HP:0040282	ORPHA:2495
6608	SMO	HP:0004389	Intestinal pseudo-obstruction	2/10	OMIM:601707
6608	SMO	HP:0004387	Enterocolitis	HP:0040283	ORPHA:388
6608	SMO	HP:0100010	Spinal meningioma	HP:0040283	ORPHA:2495
6608	SMO	HP:0100009	Intracranial meningioma	HP:0040281	ORPHA:2495
6608	SMO	HP:0000750	Delayed speech and language development	1/2	OMIM:241800
6608	SMO	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040281	ORPHA:388
6608	SMO	HP:0000712	Emotional lability	HP:0040284	ORPHA:2495
6608	SMO	HP:0030591	Abnormal kinetic perimetry test	HP:0040283	ORPHA:2495
6608	SMO	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:2495
6608	SMO	HP:0000773	Short ribs	-	OMIM:241800
6608	SMO	HP:0030766	Ear pain	HP:0040284	ORPHA:2495
6608	SMO	HP:0030765	Sleep terror	1/2	OMIM:241800
6608	SMO	HP:0004408	Abnormality of the sense of smell	HP:0040283	ORPHA:2495
6608	SMO	HP:0003196	Short nose	-	OMIM:241800
6608	SMO	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:2495
6608	SMO	HP:0000830	Anterior hypopituitarism	-	OMIM:241800
6608	SMO	HP:0030878	Abnormality on pulmonary function testing	HP:0040284	ORPHA:2495
6608	SMO	HP:0045026	Abnormal mediastinum morphology	HP:0040284	ORPHA:2495
6608	SMO	HP:0003270	Abdominal distention	HP:0040282	ORPHA:388
6608	SMO	HP:0100267	Lip pit	2/10	OMIM:601707
6608	SMO	HP:0040171	Decreased serum testosterone concentration	HP:0040282	ORPHA:2495
6608	SMO	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1553
6608	SMO	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:2495
6608	SMO	HP:0007715	Weak extraocular muscles	HP:0040283	ORPHA:2495
6608	SMO	HP:0012285	Abnormal hypothalamus physiology	HP:0040283	ORPHA:2495
6608	SMO	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:2495
6608	SMO	HP:0000256	Macrocephaly	-	OMIM:241800
6608	SMO	HP:0002827	Hip dislocation	-	OMIM:241800
6608	SMO	HP:0000238	Hydrocephalus	-	OMIM:241800
6608	SMO	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2495
6608	SMO	HP:0000252	Microcephaly	1/2	OMIM:241800
6608	SMO	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:388
6608	SMO	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:388
6608	SMO	HP:0001522	Death in infancy	HP:0040282	OMIM:241800
6608	SMO	HP:0031369	Colon perforation	HP:0040283	ORPHA:388
6608	SMO	HP:0001510	Growth delay	HP:0040283	ORPHA:388
6608	SMO	HP:0001513	Obesity	HP:0040283	ORPHA:2495
6608	SMO	HP:0005214	Intestinal obstruction	HP:0040281	ORPHA:388
6608	SMO	HP:0006520	Progressive pulmonary function impairment	HP:0040284	ORPHA:2495
6608	SMO	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:2495
6608	SMO	HP:0000360	Tinnitus	HP:0040284	ORPHA:2495
6608	SMO	HP:0000347	Micrognathia	-	OMIM:241800
6608	SMO	HP:0002983	Micromelia	-	OMIM:241800
6608	SMO	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1553
6608	SMO	HP:0000324	Facial asymmetry	3/10	OMIM:601707
6608	SMO	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:1553
6608	SMO	HP:0007924	Slow decrease in visual acuity	HP:0040283	ORPHA:2495
6608	SMO	HP:0005280	Depressed nasal bridge	-	OMIM:241800
6608	SMO	HP:0025770	2-3 finger osseus syndactyly	8/10	OMIM:601707
6608	SMO	HP:0011133	Increased sensitivity to ionizing radiation	HP:0040281	ORPHA:2495
6608	SMO	HP:0012450	Chronic constipation	3/10	OMIM:601707
6608	SMO	HP:0001770	Toe syndactyly	1/2	OMIM:241800
6608	SMO	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:1553
6608	SMO	HP:0012505	Enlarged pituitary gland	HP:0040283	ORPHA:2495
6608	SMO	HP:0001841	Preaxial foot polydactyly	3/10	OMIM:601707
6608	SMO	HP:0000520	Proptosis	HP:0040284	ORPHA:2495
6608	SMO	HP:0001829	Foot polydactyly	HP:0040282	ORPHA:1553
6608	SMO	HP:0001824	Weight loss	HP:0040282	ORPHA:388
6608	SMO	HP:0001830	Postaxial foot polydactyly	2/2	OMIM:241800
6608	SMO	HP:0030344	Decreased circulating luteinizing hormone level	HP:0040282	ORPHA:2495
6608	SMO	HP:0030341	Decreased circulating follicle stimulating hormone concentration	HP:0040282	ORPHA:2495
6608	SMO	HP:0000581	Blepharophimosis	-	OMIM:601707
6608	SMO	HP:0000588	Optic disc coloboma	HP:0040283	ORPHA:1553
6608	SMO	HP:0000568	Microphthalmia	2/10	OMIM:601707
6608	SMO	HP:0000568	Microphthalmia	HP:0040282	ORPHA:1553
6609	SMPD1	HP:0001103	Abnormal macular morphology	-	OMIM:607616
6609	SMPD1	HP:0007302	Bipolar affective disorder	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0001268	Mental deterioration	0/15	OMIM:607616
6609	SMPD1	HP:0001252	Hypotonia	-	OMIM:257200
6609	SMPD1	HP:0001251	Ataxia	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0001249	Intellectual disability	-	OMIM:257200
6609	SMPD1	HP:0001249	Intellectual disability	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0001265	Hyporeflexia	-	OMIM:257200
6609	SMPD1	HP:0001263	Global developmental delay	10/10	OMIM:257200
6609	SMPD1	HP:0001257	Spasticity	-	OMIM:257200
6609	SMPD1	HP:0002540	Inability to walk	10/10	OMIM:257200
6609	SMPD1	HP:0001399	Hepatic failure	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0001394	Cirrhosis	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0008872	Feeding difficulties in infancy	10/10	OMIM:257200
6609	SMPD1	HP:0001328	Specific learning disability	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0001324	Muscle weakness	-	OMIM:257200
6609	SMPD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:607616
6609	SMPD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:257200
6609	SMPD1	HP:0001317	Abnormal cerebellum morphology	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0002756	Pathologic fracture	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0001410	Decreased liver function	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0002716	Lymphadenopathy	-	OMIM:257200
6609	SMPD1	HP:0002725	Systemic lupus erythematosus	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0002019	Constipation	-	OMIM:257200
6609	SMPD1	HP:0002013	Vomiting	-	OMIM:257200
6609	SMPD1	HP:0002094	Dyspnea	-	OMIM:607616
6609	SMPD1	HP:0002063	Rigidity	-	OMIM:257200
6609	SMPD1	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0002155	Hypertriglyceridemia	24/29	OMIM:607616
6609	SMPD1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0002188	Delayed CNS myelination	3/3	OMIM:257200
6609	SMPD1	HP:0002186	Apraxia	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:77293
6609	SMPD1	HP:0003596	Middle age onset	5/15	OMIM:607616
6609	SMPD1	HP:0003593	Infantile onset	10/10	OMIM:257200
6609	SMPD1	HP:0002240	Hepatomegaly	10/10	OMIM:257200
6609	SMPD1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0002240	Hepatomegaly	10/15	OMIM:607616
6609	SMPD1	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040283	ORPHA:77293
6609	SMPD1	HP:0002207	Diffuse reticular or finely nodular infiltrations	-	OMIM:607616
6609	SMPD1	HP:0002207	Diffuse reticular or finely nodular infiltrations	-	OMIM:257200
6609	SMPD1	HP:0002205	Recurrent respiratory infections	-	OMIM:257200
6609	SMPD1	HP:0002205	Recurrent respiratory infections	-	OMIM:607616
6609	SMPD1	HP:0010729	Cherry red spot of the macula	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0010729	Cherry red spot of the macula	10/10	OMIM:257200
6609	SMPD1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0004836	Acute promyelocytic leukemia	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0002376	Developmental regression	10/10	OMIM:257200
6609	SMPD1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:77293
6609	SMPD1	HP:0001081	Cholelithiasis	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0002305	Athetosis	-	OMIM:257200
6609	SMPD1	HP:0003609	Foam cells with lamellar inclusion bodies	-	OMIM:607616
6609	SMPD1	HP:0003609	Foam cells with lamellar inclusion bodies	-	OMIM:257200
6609	SMPD1	HP:0003621	Juvenile onset	2/15	OMIM:607616
6609	SMPD1	HP:0001971	Hypersplenism	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0000639	Nystagmus	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0001982	Sea-blue histiocytosis	-	OMIM:607616
6609	SMPD1	HP:0001982	Sea-blue histiocytosis	-	OMIM:257200
6609	SMPD1	HP:0001973	Autoimmune thrombocytopenia	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0001935	Microcytic anemia	-	OMIM:257200
6609	SMPD1	HP:0001903	Anemia	4/15	OMIM:607616
6609	SMPD1	HP:0004322	Short stature	-	OMIM:607616
6609	SMPD1	HP:0004322	Short stature	-	OMIM:257200
6609	SMPD1	HP:0004322	Short stature	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	10/10	OMIM:257200
6609	SMPD1	HP:0004333	Bone-marrow foam cells	-	OMIM:607616
6609	SMPD1	HP:0004333	Bone-marrow foam cells	-	OMIM:257200
6609	SMPD1	HP:0031964	Elevated circulating alanine aminotransferase concentration	10/10	OMIM:257200
6609	SMPD1	HP:0003077	Hyperlipidemia	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0000737	Irritability	10/10	OMIM:257200
6609	SMPD1	HP:0000716	Depression	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0000708	Atypical behavior	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:77293
6609	SMPD1	HP:0011463	Childhood onset	1/15	OMIM:607616
6609	SMPD1	HP:0011462	Young adult onset	7/15	OMIM:607616
6609	SMPD1	HP:0003119	Abnormal circulating lipid concentration	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0003141	Increased LDL cholesterol concentration	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0003141	Increased LDL cholesterol concentration	23/44	OMIM:607616
6609	SMPD1	HP:0000823	Delayed puberty	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0003233	Decreased HDL cholesterol concentration	36/44	OMIM:607616
6609	SMPD1	HP:0003202	Skeletal muscle atrophy	10/10	OMIM:257200
6609	SMPD1	HP:0045051	Decreased DLCO	5/8	OMIM:607616
6609	SMPD1	HP:0034300	Decreased acid sphingomyelinase activity	-	OMIM:607616
6609	SMPD1	HP:0000991	Xanthomatosis	-	OMIM:257200
6609	SMPD1	HP:0000939	Osteoporosis	-	OMIM:257200
6609	SMPD1	HP:0000939	Osteoporosis	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0000938	Osteopenia	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0000256	Macrocephaly	2/10	OMIM:257200
6609	SMPD1	HP:0002829	Arthralgia	2/15	OMIM:607616
6609	SMPD1	HP:0002896	Neoplasm of the liver	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0001541	Ascites	2/10	OMIM:257200
6609	SMPD1	HP:0001538	Protuberant abdomen	-	OMIM:257200
6609	SMPD1	HP:0001508	Failure to thrive	10/10	OMIM:257200
6609	SMPD1	HP:0006579	Prolonged neonatal jaundice	1/10	OMIM:257200
6609	SMPD1	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0006530	Abnormal pulmonary interstitial morphology	2/15	OMIM:607616
6609	SMPD1	HP:0006515	Interstitial pneumonitis	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0006520	Progressive pulmonary function impairment	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0001677	Coronary artery atherosclerosis	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0001654	Abnormal heart valve morphology	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0012415	Abnormal blood gas level	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0001744	Splenomegaly	-	OMIM:257200
6609	SMPD1	HP:0001744	Splenomegaly	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0001744	Splenomegaly	14/15	OMIM:607616
6609	SMPD1	HP:0030353	Decreased serum insulin-like growth factor 1	HP:0040283	ORPHA:77293
6609	SMPD1	HP:0001892	Abnormal bleeding	HP:0040284	ORPHA:77293
6609	SMPD1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:77293
6609	SMPD1	HP:0001873	Thrombocytopenia	8/15	OMIM:607616
6611	SMS	HP:0001187	Hyperextensibility of the finger joints	-	OMIM:309583
6611	SMS	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:3063
6611	SMS	HP:0001290	Generalized hypotonia	-	OMIM:309583
6611	SMS	HP:0100807	Long fingers	-	OMIM:309583
6611	SMS	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:3063
6611	SMS	HP:0001250	Seizure	-	OMIM:309583
6611	SMS	HP:0001252	Hypotonia	-	OMIM:309583
6611	SMS	HP:0001249	Intellectual disability	2/2	OMIM:309583
6611	SMS	HP:0001260	Dysarthria	-	OMIM:309583
6611	SMS	HP:0001263	Global developmental delay	2/2	OMIM:309583
6611	SMS	HP:0002540	Inability to walk	HP:0040283	ORPHA:3063
6611	SMS	HP:0000086	Ectopic kidney	HP:0040284	ORPHA:3063
6611	SMS	HP:0000098	Tall stature	-	OMIM:309583
6611	SMS	HP:0000047	Hypospadias	HP:0040283	ORPHA:3063
6611	SMS	HP:0001355	Megalencephaly	HP:0040284	ORPHA:3063
6611	SMS	HP:0002684	Thickened calvaria	2/2	OMIM:309583
6611	SMS	HP:0000029	Testicular atrophy	HP:0040283	ORPHA:3063
6611	SMS	HP:0000028	Cryptorchidism	-	OMIM:309583
6611	SMS	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:3063
6611	SMS	HP:0007509	Patchy hypo- and hyperpigmentation	HP:0040283	ORPHA:3063
6611	SMS	HP:0001344	Absent speech	HP:0040283	ORPHA:3063
6611	SMS	HP:0001336	Myoclonus	HP:0040283	ORPHA:3063
6611	SMS	HP:0002650	Scoliosis	2/2	OMIM:309583
6611	SMS	HP:0000179	Thick lower lip vermilion	HP:0040282	ORPHA:3063
6611	SMS	HP:0000179	Thick lower lip vermilion	2/2	OMIM:309583
6611	SMS	HP:0000193	Bifid uvula	-	OMIM:309583
6611	SMS	HP:0000160	Narrow mouth	HP:0040283	ORPHA:3063
6611	SMS	HP:0000175	Cleft palate	HP:0040282	ORPHA:3063
6611	SMS	HP:0000175	Cleft palate	-	OMIM:309583
6611	SMS	HP:0007687	Unilateral ptosis	HP:0040283	ORPHA:3063
6611	SMS	HP:0008947	Floppy infant	HP:0040282	ORPHA:3063
6611	SMS	HP:0002705	High, narrow palate	2/2	OMIM:309583
6611	SMS	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:3063
6611	SMS	HP:0002757	Recurrent fractures	1/2	OMIM:309583
6611	SMS	HP:0002753	Thin bony cortex	2/2	OMIM:309583
6611	SMS	HP:0002751	Kyphoscoliosis	1/2	OMIM:309583
6611	SMS	HP:0002751	Kyphoscoliosis	HP:0040281	ORPHA:3063
6611	SMS	HP:0001419	X-linked recessive inheritance	-	OMIM:309583
6611	SMS	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:3063
6611	SMS	HP:0002136	Broad-based gait	-	OMIM:309583
6611	SMS	HP:0002187	Intellectual disability, profound	HP:0040284	ORPHA:3063
6611	SMS	HP:0002181	Cerebral edema	HP:0040284	ORPHA:3063
6611	SMS	HP:0010511	Long toe	HP:0040282	ORPHA:3063
6611	SMS	HP:0010722	Asymmetry of the ears	HP:0040283	ORPHA:3063
6611	SMS	HP:0003698	Difficulty standing	HP:0040283	ORPHA:3063
6611	SMS	HP:0002353	EEG abnormality	HP:0040283	ORPHA:3063
6611	SMS	HP:0002317	Unsteady gait	HP:0040282	ORPHA:3063
6611	SMS	HP:0010789	Abnormality of the Leydig cells	HP:0040284	ORPHA:3063
6611	SMS	HP:0004283	Narrow palm	-	OMIM:309583
6611	SMS	HP:0000678	Dental crowding	HP:0040283	ORPHA:3063
6611	SMS	HP:0000678	Dental crowding	2/2	OMIM:309583
6611	SMS	HP:0011308	Slender toe	HP:0040282	ORPHA:3063
6611	SMS	HP:0011302	Long palm	-	OMIM:309583
6611	SMS	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:3063
6611	SMS	HP:0000664	Synophrys	2/2	OMIM:309583
6611	SMS	HP:0000664	Synophrys	HP:0040283	ORPHA:3063
6611	SMS	HP:0004322	Short stature	-	OMIM:309583
6611	SMS	HP:0004322	Short stature	HP:0040284	ORPHA:3063
6611	SMS	HP:0004305	Involuntary movements	HP:0040283	ORPHA:3063
6611	SMS	HP:0000767	Pectus excavatum	HP:0040284	ORPHA:3063
6611	SMS	HP:0000767	Pectus excavatum	2/2	OMIM:309583
6611	SMS	HP:0000768	Pectus carinatum	-	OMIM:309583
6611	SMS	HP:0000768	Pectus carinatum	HP:0040284	ORPHA:3063
6611	SMS	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:3063
6611	SMS	HP:0003199	Decreased muscle mass	HP:0040282	ORPHA:3063
6611	SMS	HP:0003199	Decreased muscle mass	-	OMIM:309583
6611	SMS	HP:0045075	Sparse eyebrow	HP:0040283	ORPHA:3063
6611	SMS	HP:0045075	Sparse eyebrow	2/2	OMIM:309583
6611	SMS	HP:0000954	Single transverse palmar crease	1/2	OMIM:309583
6611	SMS	HP:0000939	Osteoporosis	-	OMIM:309583
6611	SMS	HP:0000939	Osteoporosis	HP:0040282	ORPHA:3063
6611	SMS	HP:0000275	Narrow face	HP:0040282	ORPHA:3063
6611	SMS	HP:0000276	Long face	HP:0040282	ORPHA:3063
6611	SMS	HP:0002808	Kyphosis	HP:0040282	ORPHA:3063
6611	SMS	HP:0000248	Brachycephaly	2/2	OMIM:309583
6611	SMS	HP:0000248	Brachycephaly	HP:0040284	ORPHA:3063
6611	SMS	HP:0000218	High palate	HP:0040283	ORPHA:3063
6611	SMS	HP:0000232	Everted lower lip vermilion	HP:0040284	ORPHA:3063
6611	SMS	HP:0001519	Disproportionate tall stature	HP:0040282	ORPHA:3063
6611	SMS	HP:0012385	Camptodactyly	HP:0040284	ORPHA:3063
6611	SMS	HP:0000385	Small earlobe	HP:0040284	ORPHA:3063
6611	SMS	HP:0000378	Cupped ear	HP:0040284	ORPHA:3063
6611	SMS	HP:0000377	Abnormal pinna morphology	-	OMIM:309583
6611	SMS	HP:0000391	Thickened helices	HP:0040284	ORPHA:3063
6611	SMS	HP:0001609	Hoarse voice	2/2	OMIM:309583
6611	SMS	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:3063
6611	SMS	HP:0001611	Hypernasal speech	-	OMIM:309583
6611	SMS	HP:0011003	High myopia	HP:0040284	ORPHA:3063
6611	SMS	HP:0011003	High myopia	-	OMIM:309583
6611	SMS	HP:0000369	Low-set ears	HP:0040283	ORPHA:3063
6611	SMS	HP:0000319	Smooth philtrum	2/2	OMIM:309583
6611	SMS	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:3063
6611	SMS	HP:0000316	Hypertelorism	-	OMIM:309583
6611	SMS	HP:0000316	Hypertelorism	HP:0040283	ORPHA:3063
6611	SMS	HP:0000322	Short philtrum	-	OMIM:309583
6611	SMS	HP:0000322	Short philtrum	HP:0040284	ORPHA:3063
6611	SMS	HP:0000324	Facial asymmetry	2/2	OMIM:309583
6611	SMS	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:3063
6611	SMS	HP:0002953	Vertebral compression fracture	1/2	OMIM:309583
6611	SMS	HP:0000303	Mandibular prognathia	-	OMIM:309583
6611	SMS	HP:0000303	Mandibular prognathia	HP:0040284	ORPHA:3063
6611	SMS	HP:0006610	Wide intermamillary distance	HP:0040284	ORPHA:3063
6611	SMS	HP:0006610	Wide intermamillary distance	2/2	OMIM:309583
6611	SMS	HP:0011153	Focal motor seizure	HP:0040283	ORPHA:3063
6611	SMS	HP:0000463	Anteverted nares	HP:0040283	ORPHA:3063
6611	SMS	HP:0000463	Anteverted nares	2/2	OMIM:309583
6611	SMS	HP:0000470	Short neck	1/2	OMIM:309583
6611	SMS	HP:0000465	Webbed neck	HP:0040283	ORPHA:3063
6611	SMS	HP:0000465	Webbed neck	2/2	OMIM:309583
6611	SMS	HP:0000414	Bulbous nose	2/2	OMIM:309583
6611	SMS	HP:0000414	Bulbous nose	HP:0040283	ORPHA:3063
6611	SMS	HP:0001762	Talipes equinovarus	-	OMIM:309583
6611	SMS	HP:0000426	Prominent nasal bridge	2/2	OMIM:309583
6611	SMS	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:3063
6611	SMS	HP:0001847	Long hallux	2/2	OMIM:309583
6611	SMS	HP:0000520	Proptosis	HP:0040284	ORPHA:3063
6611	SMS	HP:0000508	Ptosis	2/2	OMIM:309583
6611	SMS	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:3063
6616	SNAP25	HP:0002465	Poor speech	1/1	OMIM:616330
6616	SNAP25	HP:0002421	Poor head control	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:98914
6616	SNAP25	HP:0001270	Motor delay	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0001288	Gait disturbance	1/1	OMIM:616330
6616	SNAP25	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0001283	Bulbar palsy	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0001284	Areflexia	1/1	OMIM:616330
6616	SNAP25	HP:0001284	Areflexia	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0001250	Seizure	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0001252	Hypotonia	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0001251	Ataxia	1/1	OMIM:616330
6616	SNAP25	HP:0001251	Ataxia	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0001249	Intellectual disability	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0001265	Hyporeflexia	HP:0040284	ORPHA:98914
6616	SNAP25	HP:0001260	Dysarthria	1/1	OMIM:616330
6616	SNAP25	HP:0001263	Global developmental delay	1/1	OMIM:616330
6616	SNAP25	HP:0002515	Waddling gait	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0001374	Congenital hip dislocation	HP:0040284	ORPHA:98914
6616	SNAP25	HP:0001382	Joint hypermobility	HP:0040284	ORPHA:98914
6616	SNAP25	HP:0000006	Autosomal dominant inheritance	-	OMIM:616330
6616	SNAP25	HP:0002643	Neonatal respiratory distress	1/1	OMIM:616330
6616	SNAP25	HP:0025401	Staring gaze	HP:0040284	ORPHA:98914
6616	SNAP25	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0002020	Gastroesophageal reflux	HP:0040284	ORPHA:98914
6616	SNAP25	HP:0002033	Poor suck	HP:0040281	ORPHA:98914
6616	SNAP25	HP:0004661	Frontalis muscle weakness	HP:0040281	ORPHA:98914
6616	SNAP25	HP:0003325	Limb-girdle muscle weakness	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0002015	Dysphagia	HP:0040281	ORPHA:98914
6616	SNAP25	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0005943	Respiratory arrest	HP:0040284	ORPHA:98914
6616	SNAP25	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0003473	Fatigable weakness	1/1	OMIM:616330
6616	SNAP25	HP:0003473	Fatigable weakness	HP:0040281	ORPHA:98914
6616	SNAP25	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0010536	Central sleep apnea	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0010529	Echolalia	1/1	OMIM:616330
6616	SNAP25	HP:0004885	Episodic respiratory distress	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0040281	ORPHA:98914
6616	SNAP25	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:98914
6616	SNAP25	HP:0002392	EEG with polyspike wave complexes	HP:0040284	ORPHA:98914
6616	SNAP25	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0008443	Neuropathic spinal arthropathy	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0007178	Motor polyneuropathy	HP:0040284	ORPHA:98914
6616	SNAP25	HP:0000639	Nystagmus	HP:0040284	ORPHA:98914
6616	SNAP25	HP:0000651	Diplopia	HP:0040284	ORPHA:98914
6616	SNAP25	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0034197	Third trimester onset	1/1	OMIM:616330
6616	SNAP25	HP:0031936	Delayed ability to walk	1/1	OMIM:616330
6616	SNAP25	HP:0000768	Pectus carinatum	HP:0040284	ORPHA:98914
6616	SNAP25	HP:0011469	Nasal regurgitation	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0012801	Narrow jaw	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0030842	Choking episodes	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0010307	Stridor	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0100285	EMG: impaired neuromuscular transmission	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0000961	Cyanosis	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0000276	Long face	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0006380	Knee flexion contracture	1/1	OMIM:616330
6616	SNAP25	HP:0002882	Sudden episodic apnea	HP:0040281	ORPHA:98914
6616	SNAP25	HP:0000218	High palate	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:98914
6616	SNAP25	HP:0001558	Decreased fetal movement	1/1	OMIM:616330
6616	SNAP25	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0002870	Obstructive sleep apnea	HP:0040284	ORPHA:98914
6616	SNAP25	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	-	ORPHA:98914
6616	SNAP25	HP:0001618	Dysphonia	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0001612	Weak cry	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:98914
6616	SNAP25	HP:0000369	Low-set ears	HP:0040284	ORPHA:98914
6616	SNAP25	HP:0000308	Microretrognathia	HP:0040284	ORPHA:98914
6616	SNAP25	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:98914
6616	SNAP25	HP:0000467	Neck muscle weakness	HP:0040281	ORPHA:98914
6616	SNAP25	HP:0001761	Pes cavus	HP:0040283	ORPHA:98914
6616	SNAP25	HP:0000508	Ptosis	1/1	OMIM:616330
6616	SNAP25	HP:0000508	Ptosis	HP:0040281	ORPHA:98914
6616	SNAP25	HP:0000565	Esotropia	HP:0040284	ORPHA:98914
6620	SNCB	HP:0000006	Autosomal dominant inheritance	-	OMIM:127750
6620	SNCB	HP:0001300	Parkinsonism	-	OMIM:127750
6620	SNCB	HP:0002367	Visual hallucination	-	OMIM:127750
6620	SNCB	HP:0007159	Fluctuations in consciousness	-	OMIM:127750
6620	SNCB	HP:0000746	Delusion	-	OMIM:127750
6620	SNCB	HP:0000726	Dementia	-	OMIM:127750
6620	SNCB	HP:0100315	Lewy bodies	-	OMIM:127750
6621	SNAPC4	HP:0001272	Cerebellar atrophy	5/8	OMIM:620515
6621	SNAPC4	HP:0001288	Gait disturbance	10/10	OMIM:620515
6621	SNAPC4	HP:0001285	Spastic tetraparesis	6/10	OMIM:620515
6621	SNAPC4	HP:0001260	Dysarthria	8/10	OMIM:620515
6621	SNAPC4	HP:0001257	Spasticity	4/4	OMIM:620515
6621	SNAPC4	HP:0001347	Hyperreflexia	9/10	OMIM:620515
6621	SNAPC4	HP:0001332	Dystonia	5/8	OMIM:620515
6621	SNAPC4	HP:0000007	Autosomal recessive inheritance	-	OMIM:620515
6621	SNAPC4	HP:0002059	Cerebral atrophy	3/8	OMIM:620515
6621	SNAPC4	HP:0003593	Infantile onset	1/8	OMIM:620515
6621	SNAPC4	HP:0002307	Drooling	7/10	OMIM:620515
6621	SNAPC4	HP:0004322	Short stature	10/10	OMIM:620515
6621	SNAPC4	HP:0011463	Childhood onset	7/8	OMIM:620515
6621	SNAPC4	HP:0034332	Cognitive regression	8/8	OMIM:620515
6621	SNAPC4	HP:0033044	Motor regression	8/8	OMIM:620515
6621	SNAPC4	HP:0000252	Microcephaly	8/10	OMIM:620515
6622	SNCA	HP:0007256	Abnormal pyramidal sign	HP:0040280	ORPHA:171695
6622	SNCA	HP:0025269	Panic attack	HP:0040283	ORPHA:2828
6622	SNCA	HP:0001278	Orthostatic hypotension	-	OMIM:605543
6622	SNCA	HP:0001268	Mental deterioration	HP:0040283	ORPHA:411602
6622	SNCA	HP:0001268	Mental deterioration	-	OMIM:168601
6622	SNCA	HP:0001288	Gait disturbance	-	OMIM:168601
6622	SNCA	HP:0002578	Gastroparesis	HP:0040283	ORPHA:2828
6622	SNCA	HP:0001260	Dysarthria	-	OMIM:168601
6622	SNCA	HP:0001257	Spasticity	HP:0040283	ORPHA:2828
6622	SNCA	HP:0001257	Spasticity	HP:0040282	ORPHA:171695
6622	SNCA	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	HP:0040282	ORPHA:411602
6622	SNCA	HP:0002505	Loss of ambulation	4/4	OMIM:168601
6622	SNCA	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2828
6622	SNCA	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:171695
6622	SNCA	HP:0001332	Dystonia	HP:0040283	ORPHA:2828
6622	SNCA	HP:0001332	Dystonia	-	OMIM:168601
6622	SNCA	HP:0001332	Dystonia	HP:0040282	ORPHA:171695
6622	SNCA	HP:0001332	Dystonia	HP:0040283	ORPHA:411602
6622	SNCA	HP:0000011	Neurogenic bladder	HP:0040282	ORPHA:171695
6622	SNCA	HP:0000012	Urinary urgency	-	OMIM:168601
6622	SNCA	HP:0001337	Tremor	HP:0040282	ORPHA:2828
6622	SNCA	HP:0000006	Autosomal dominant inheritance	-	OMIM:127750
6622	SNCA	HP:0000006	Autosomal dominant inheritance	-	OMIM:605543
6622	SNCA	HP:0000006	Autosomal dominant inheritance	-	OMIM:168601
6622	SNCA	HP:0001336	Myoclonus	HP:0040282	ORPHA:171695
6622	SNCA	HP:0001336	Myoclonus	-	OMIM:168601
6622	SNCA	HP:0001300	Parkinsonism	-	OMIM:605543
6622	SNCA	HP:0001300	Parkinsonism	HP:0040280	ORPHA:411602
6622	SNCA	HP:0001300	Parkinsonism	-	OMIM:127750
6622	SNCA	HP:0001300	Parkinsonism	HP:0040280	ORPHA:171695
6622	SNCA	HP:0001300	Parkinsonism	4/4	OMIM:168601
6622	SNCA	HP:0002018	Nausea	HP:0040283	ORPHA:2828
6622	SNCA	HP:0002019	Constipation	HP:0040283	ORPHA:2828
6622	SNCA	HP:0040307	Male sexual dysfunction	HP:0040283	ORPHA:2828
6622	SNCA	HP:0002014	Diarrhea	HP:0040283	ORPHA:2828
6622	SNCA	HP:0002015	Dysphagia	-	OMIM:168601
6622	SNCA	HP:0002015	Dysphagia	HP:0040282	ORPHA:171695
6622	SNCA	HP:0002015	Dysphagia	HP:0040282	ORPHA:411602
6622	SNCA	HP:0002080	Intention tremor	HP:0040282	ORPHA:171695
6622	SNCA	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2828
6622	SNCA	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:171695
6622	SNCA	HP:0002067	Bradykinesia	HP:0040283	ORPHA:411602
6622	SNCA	HP:0002067	Bradykinesia	HP:0040283	ORPHA:2828
6622	SNCA	HP:0002067	Bradykinesia	HP:0040282	ORPHA:171695
6622	SNCA	HP:0002067	Bradykinesia	4/4	OMIM:168601
6622	SNCA	HP:0003394	Muscle spasm	HP:0040283	ORPHA:411602
6622	SNCA	HP:0003394	Muscle spasm	HP:0040283	ORPHA:2828
6622	SNCA	HP:0002063	Rigidity	HP:0040283	ORPHA:411602
6622	SNCA	HP:0002063	Rigidity	HP:0040281	ORPHA:2828
6622	SNCA	HP:0002063	Rigidity	HP:0040282	ORPHA:171695
6622	SNCA	HP:0002063	Rigidity	4/4	OMIM:168601
6622	SNCA	HP:0002141	Gait imbalance	HP:0040283	ORPHA:2828
6622	SNCA	HP:0003487	Babinski sign	HP:0040282	ORPHA:171695
6622	SNCA	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:411602
6622	SNCA	HP:0002171	Gliosis	HP:0040283	ORPHA:411602
6622	SNCA	HP:0002171	Gliosis	-	OMIM:168601
6622	SNCA	HP:0002172	Postural instability	HP:0040283	ORPHA:411602
6622	SNCA	HP:0002172	Postural instability	HP:0040282	ORPHA:2828
6622	SNCA	HP:0002172	Postural instability	HP:0040282	ORPHA:171695
6622	SNCA	HP:0002172	Postural instability	-	OMIM:168601
6622	SNCA	HP:0003596	Middle age onset	-	OMIM:605543
6622	SNCA	HP:0003587	Insidious onset	-	OMIM:168601
6622	SNCA	HP:0003584	Late onset	1/4	OMIM:168601
6622	SNCA	HP:0100710	Impulsivity	HP:0040283	ORPHA:411602
6622	SNCA	HP:0100710	Impulsivity	HP:0040284	ORPHA:2828
6622	SNCA	HP:0100785	Insomnia	HP:0040283	ORPHA:2828
6622	SNCA	HP:0002283	Global brain atrophy	2/3	OMIM:168601
6622	SNCA	HP:0100753	Schizophrenia	HP:0040284	ORPHA:411602
6622	SNCA	HP:0011999	Paranoia	-	OMIM:605543
6622	SNCA	HP:0011960	Substantia nigra gliosis	HP:0040282	ORPHA:171695
6622	SNCA	HP:0002367	Visual hallucination	HP:0040282	ORPHA:171695
6622	SNCA	HP:0002367	Visual hallucination	HP:0040283	ORPHA:411602
6622	SNCA	HP:0002367	Visual hallucination	-	OMIM:127750
6622	SNCA	HP:0002362	Shuffling gait	HP:0040283	ORPHA:411602
6622	SNCA	HP:0002362	Shuffling gait	HP:0040282	ORPHA:171695
6622	SNCA	HP:0002362	Shuffling gait	-	OMIM:168601
6622	SNCA	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:171695
6622	SNCA	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:411602
6622	SNCA	HP:0002360	Sleep abnormality	-	OMIM:168601
6622	SNCA	HP:0002359	Frequent falls	HP:0040282	ORPHA:411602
6622	SNCA	HP:0002375	Hypokinesia	-	OMIM:168601
6622	SNCA	HP:0003676	Progressive	-	OMIM:168601
6622	SNCA	HP:0003678	Rapidly progressive	-	OMIM:605543
6622	SNCA	HP:0002322	Resting tremor	HP:0040282	ORPHA:411602
6622	SNCA	HP:0002322	Resting tremor	2/4	OMIM:168601
6622	SNCA	HP:0100660	Dyskinesia	HP:0040283	ORPHA:411602
6622	SNCA	HP:0100660	Dyskinesia	HP:0040282	ORPHA:2828
6622	SNCA	HP:0007159	Fluctuations in consciousness	-	OMIM:127750
6622	SNCA	HP:0002304	Akinesia	HP:0040282	ORPHA:411602
6622	SNCA	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	HP:0040283	ORPHA:411602
6622	SNCA	HP:0000651	Diplopia	HP:0040282	ORPHA:411602
6622	SNCA	HP:0000651	Diplopia	HP:0040284	ORPHA:2828
6622	SNCA	HP:0031908	Micrographia	-	OMIM:168601
6622	SNCA	HP:0000738	Hallucinations	-	OMIM:605543
6622	SNCA	HP:0000738	Hallucinations	HP:0040282	ORPHA:2828
6622	SNCA	HP:0000738	Hallucinations	1/3	OMIM:168601
6622	SNCA	HP:0000739	Anxiety	HP:0040283	ORPHA:2828
6622	SNCA	HP:0000736	Short attention span	HP:0040283	ORPHA:2828
6622	SNCA	HP:0000744	Low frustration tolerance	HP:0040283	ORPHA:411602
6622	SNCA	HP:0000746	Delusion	-	OMIM:127750
6622	SNCA	HP:0000741	Apathy	HP:0040283	ORPHA:411602
6622	SNCA	HP:0000741	Apathy	HP:0040282	ORPHA:2828
6622	SNCA	HP:0000716	Depression	HP:0040282	ORPHA:2828
6622	SNCA	HP:0000716	Depression	HP:0040283	ORPHA:411602
6622	SNCA	HP:0000716	Depression	-	OMIM:168601
6622	SNCA	HP:0000713	Agitation	HP:0040283	ORPHA:411602
6622	SNCA	HP:0000713	Agitation	HP:0040284	ORPHA:2828
6622	SNCA	HP:0000727	Frontal lobe dementia	HP:0040284	ORPHA:2828
6622	SNCA	HP:0000726	Dementia	-	OMIM:605543
6622	SNCA	HP:0000726	Dementia	HP:0040283	ORPHA:2828
6622	SNCA	HP:0000726	Dementia	HP:0040283	ORPHA:171695
6622	SNCA	HP:0000726	Dementia	HP:0040284	ORPHA:411602
6622	SNCA	HP:0000726	Dementia	-	OMIM:127750
6622	SNCA	HP:0000726	Dementia	-	OMIM:168601
6622	SNCA	HP:0011462	Young adult onset	3/4	OMIM:168601
6622	SNCA	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:2828
6622	SNCA	HP:0004409	Hyposmia	HP:0040282	ORPHA:411602
6622	SNCA	HP:0004409	Hyposmia	HP:0040283	ORPHA:2828
6622	SNCA	HP:0100315	Lewy bodies	-	OMIM:605543
6622	SNCA	HP:0100315	Lewy bodies	HP:0040283	ORPHA:171695
6622	SNCA	HP:0100315	Lewy bodies	HP:0040283	ORPHA:411602
6622	SNCA	HP:0100315	Lewy bodies	-	OMIM:168601
6622	SNCA	HP:0100315	Lewy bodies	-	OMIM:127750
6622	SNCA	HP:0030014	Female sexual dysfunction	HP:0040283	ORPHA:2828
6622	SNCA	HP:0031435	Monotonic speech	HP:0040283	ORPHA:411602
6622	SNCA	HP:0031435	Monotonic speech	HP:0040282	ORPHA:171695
6622	SNCA	HP:0012332	Abnormal autonomic nervous system physiology	-	OMIM:605543
6622	SNCA	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	ORPHA:171695
6622	SNCA	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:2828
6622	SNCA	HP:0000338	Hypomimic face	HP:0040283	ORPHA:411602
6622	SNCA	HP:0000338	Hypomimic face	HP:0040282	ORPHA:171695
6622	SNCA	HP:0005340	Spastic/hyperactive bladder	HP:0040282	ORPHA:411602
6622	SNCA	HP:0012452	Restless legs	HP:0040283	ORPHA:2828
6622	SNCA	HP:0012450	Chronic constipation	HP:0040282	ORPHA:411602
6622	SNCA	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:171695
6622	SNCA	HP:0000514	Slow saccadic eye movements	HP:0040282	ORPHA:171695
6622	SNCA	HP:0001824	Weight loss	-	OMIM:605543
6622	SNCA	HP:0001824	Weight loss	HP:0040283	ORPHA:411602
6622	SNCA	HP:0000551	Color vision defect	HP:0040283	ORPHA:2828
6628	SNRPB	HP:0002475	Myelomeningocele	HP:0040283	ORPHA:1393
6628	SNRPB	HP:0002435	Meningocele	HP:0040283	ORPHA:1393
6628	SNRPB	HP:0002414	Spina bifida	HP:0040283	ORPHA:1393
6628	SNRPB	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6628	SNRPB	HP:0001293	Cranial nerve compression	-	OMIM:131300
6628	SNRPB	HP:0001252	Hypotonia	2/7	OMIM:615777
6628	SNRPB	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1393
6628	SNRPB	HP:0001249	Intellectual disability	5/7	OMIM:615777
6628	SNRPB	HP:0001249	Intellectual disability	3/15	OMIM:117650
6628	SNRPB	HP:0001263	Global developmental delay	-	OMIM:615777
6628	SNRPB	HP:0002515	Waddling gait	54/102	OMIM:131300
6628	SNRPB	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:1393
6628	SNRPB	HP:0000086	Ectopic kidney	-	OMIM:117650
6628	SNRPB	HP:0000085	Horseshoe kidney	-	OMIM:117650
6628	SNRPB	HP:0001374	Congenital hip dislocation	-	OMIM:117650
6628	SNRPB	HP:0001382	Joint hypermobility	-	OMIM:615777
6628	SNRPB	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6628	SNRPB	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6628	SNRPB	HP:0008897	Postnatal growth retardation	-	OMIM:117650
6628	SNRPB	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6628	SNRPB	HP:0001324	Muscle weakness	40/96	OMIM:131300
6628	SNRPB	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6628	SNRPB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6628	SNRPB	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:1393
6628	SNRPB	HP:0000006	Autosomal dominant inheritance	-	OMIM:117650
6628	SNRPB	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6628	SNRPB	HP:0002650	Scoliosis	12/14	OMIM:131300
6628	SNRPB	HP:0002650	Scoliosis	5/15	OMIM:117650
6628	SNRPB	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6628	SNRPB	HP:0002643	Neonatal respiratory distress	-	OMIM:117650
6628	SNRPB	HP:0002643	Neonatal respiratory distress	HP:0040281	ORPHA:1393
6628	SNRPB	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6628	SNRPB	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6628	SNRPB	HP:0000185	Cleft soft palate	-	OMIM:117650
6628	SNRPB	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6628	SNRPB	HP:0000162	Glossoptosis	-	OMIM:117650
6628	SNRPB	HP:0000162	Glossoptosis	HP:0040282	ORPHA:1393
6628	SNRPB	HP:0000175	Cleft palate	HP:0040281	ORPHA:1393
6628	SNRPB	HP:0000175	Cleft palate	2/7	OMIM:615777
6628	SNRPB	HP:0000175	Cleft palate	10/15	OMIM:117650
6628	SNRPB	HP:0410030	Cleft lip	1/16	OMIM:117650
6628	SNRPB	HP:0002779	Tracheomalacia	HP:0040282	ORPHA:1393
6628	SNRPB	HP:0000107	Renal cyst	-	OMIM:117650
6628	SNRPB	HP:0002025	Anal stenosis	1/16	OMIM:117650
6628	SNRPB	HP:0002020	Gastroesophageal reflux	-	OMIM:117650
6628	SNRPB	HP:0004695	Calcaneal epiphyseal stippling	-	OMIM:117650
6628	SNRPB	HP:0003388	Easy fatigability	36/76	OMIM:131300
6628	SNRPB	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6628	SNRPB	HP:0002132	Porencephalic cyst	HP:0040283	ORPHA:1393
6628	SNRPB	HP:0002132	Porencephalic cyst	-	OMIM:117650
6628	SNRPB	HP:0003577	Congenital onset	16/16	OMIM:117650
6628	SNRPB	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1393
6628	SNRPB	HP:0003510	Severe short stature	7/7	OMIM:615777
6628	SNRPB	HP:0002315	Headache	-	OMIM:131300
6628	SNRPB	HP:0004976	Knee dislocation	6/7	OMIM:615777
6628	SNRPB	HP:0002324	Hydranencephaly	HP:0040283	ORPHA:1393
6628	SNRPB	HP:0009803	Short phalanx of finger	-	OMIM:615777
6628	SNRPB	HP:0009763	Limb pain	63/92	OMIM:131300
6628	SNRPB	HP:0003621	Juvenile onset	-	OMIM:131300
6628	SNRPB	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6628	SNRPB	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:1393
6628	SNRPB	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:117650
6628	SNRPB	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6628	SNRPB	HP:6001056	Out-toeing	-	OMIM:131300
6628	SNRPB	HP:0000651	Diplopia	-	OMIM:131300
6628	SNRPB	HP:0001956	Truncal obesity	2/7	OMIM:615777
6628	SNRPB	HP:0001903	Anemia	HP:0040283	OMIM:131300
6628	SNRPB	HP:0010049	Short metacarpal	-	OMIM:615777
6628	SNRPB	HP:0000678	Dental crowding	-	OMIM:615777
6628	SNRPB	HP:0000670	Carious teeth	-	OMIM:131300
6628	SNRPB	HP:0000670	Carious teeth	1/16	OMIM:117650
6628	SNRPB	HP:0011304	Broad thumb	2/7	OMIM:615777
6628	SNRPB	HP:0000668	Hypodontia	-	OMIM:615777
6628	SNRPB	HP:0000664	Synophrys	-	OMIM:615777
6628	SNRPB	HP:0004322	Short stature	HP:0040282	ORPHA:1393
6628	SNRPB	HP:0004396	Poor appetite	-	OMIM:131300
6628	SNRPB	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6628	SNRPB	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6628	SNRPB	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6628	SNRPB	HP:0003026	Short long bone	7/7	OMIM:615777
6628	SNRPB	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6628	SNRPB	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6628	SNRPB	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6628	SNRPB	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6628	SNRPB	HP:0000750	Delayed speech and language development	-	OMIM:615777
6628	SNRPB	HP:0011461	Fetal onset	7/7	OMIM:615777
6628	SNRPB	HP:0000774	Narrow chest	2/7	OMIM:615777
6628	SNRPB	HP:0000926	Platyspondyly	1/7	OMIM:615777
6628	SNRPB	HP:0003180	Flat acetabular roof	-	OMIM:615777
6628	SNRPB	HP:0004482	Relative macrocephaly	-	OMIM:615777
6628	SNRPB	HP:0004468	Anomalous tracheal cartilage	-	OMIM:117650
6628	SNRPB	HP:0005792	Short humerus	-	OMIM:117650
6628	SNRPB	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6628	SNRPB	HP:0000878	11 pairs of ribs	2/16	OMIM:117650
6628	SNRPB	HP:0000823	Delayed puberty	-	OMIM:131300
6628	SNRPB	HP:0010290	Short hard palate	HP:0040283	ORPHA:1393
6628	SNRPB	HP:0010290	Short hard palate	-	OMIM:117650
6628	SNRPB	HP:0000894	Short clavicles	-	OMIM:615777
6628	SNRPB	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6628	SNRPB	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6628	SNRPB	HP:0000286	Epicanthus	1/7	OMIM:615777
6628	SNRPB	HP:0000286	Epicanthus	-	OMIM:117650
6628	SNRPB	HP:0000280	Coarse facial features	2/7	OMIM:615777
6628	SNRPB	HP:0001591	Bell-shaped thorax	7/16	OMIM:117650
6628	SNRPB	HP:0001591	Bell-shaped thorax	HP:0040281	ORPHA:1393
6628	SNRPB	HP:0000272	Malar flattening	-	OMIM:117650
6628	SNRPB	HP:0002827	Hip dislocation	3/7	OMIM:615777
6628	SNRPB	HP:0002808	Kyphosis	HP:0040282	ORPHA:1393
6628	SNRPB	HP:0000252	Microcephaly	HP:0040283	ORPHA:1393
6628	SNRPB	HP:0000252	Microcephaly	-	OMIM:615777
6628	SNRPB	HP:0000252	Microcephaly	-	OMIM:117650
6628	SNRPB	HP:0000218	High palate	5/15	OMIM:117650
6628	SNRPB	HP:0001545	Anteriorly placed anus	HP:0040283	OMIM:117650
6628	SNRPB	HP:0001561	Polyhydramnios	-	OMIM:117650
6628	SNRPB	HP:0002857	Genu valgum	-	OMIM:131300
6628	SNRPB	HP:0001522	Death in infancy	HP:0040282	ORPHA:1393
6628	SNRPB	HP:0001533	Slender build	-	OMIM:131300
6628	SNRPB	HP:0000201	Pierre-Robin sequence	14/16	OMIM:117650
6628	SNRPB	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1393
6628	SNRPB	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6628	SNRPB	HP:0007807	Optic nerve compression	-	OMIM:131300
6628	SNRPB	HP:0012368	Flat face	7/7	OMIM:615777
6628	SNRPB	HP:0005257	Thoracic hypoplasia	-	OMIM:117650
6628	SNRPB	HP:0006593	Anomalous rib insertion to vertebrae	-	OMIM:117650
6628	SNRPB	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6628	SNRPB	HP:0001611	Hypernasal speech	-	OMIM:117650
6628	SNRPB	HP:0000365	Hearing impairment	10/67	OMIM:131300
6628	SNRPB	HP:0000358	Posteriorly rotated ears	-	OMIM:117650
6628	SNRPB	HP:0000369	Low-set ears	-	OMIM:117650
6628	SNRPB	HP:0000343	Long philtrum	1/7	OMIM:615777
6628	SNRPB	HP:0000343	Long philtrum	-	OMIM:117650
6628	SNRPB	HP:0011001	Increased bone mineral density	-	OMIM:131300
6628	SNRPB	HP:0000347	Micrognathia	HP:0040281	ORPHA:1393
6628	SNRPB	HP:0000347	Micrognathia	-	OMIM:117650
6628	SNRPB	HP:0001643	Patent ductus arteriosus	-	OMIM:117650
6628	SNRPB	HP:0000311	Round face	2/7	OMIM:615777
6628	SNRPB	HP:0002987	Elbow flexion contracture	-	OMIM:117650
6628	SNRPB	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:1393
6628	SNRPB	HP:0001629	Ventricular septal defect	-	OMIM:117650
6628	SNRPB	HP:0002970	Genu varum	-	OMIM:615777
6628	SNRPB	HP:0001631	Atrial septal defect	3/16	OMIM:117650
6628	SNRPB	HP:0000303	Mandibular prognathia	-	OMIM:131300
6628	SNRPB	HP:0030300	10 pairs of ribs	2/16	OMIM:117650
6628	SNRPB	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:1393
6628	SNRPB	HP:0000405	Conductive hearing impairment	6/16	OMIM:117650
6628	SNRPB	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6628	SNRPB	HP:0000494	Downslanted palpebral fissures	3/16	OMIM:117650
6628	SNRPB	HP:0000470	Short neck	1/7	OMIM:615777
6628	SNRPB	HP:0000465	Webbed neck	1/16	OMIM:117650
6628	SNRPB	HP:0000465	Webbed neck	HP:0040283	ORPHA:1393
6628	SNRPB	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6628	SNRPB	HP:0001763	Pes planus	1/7	OMIM:615777
6628	SNRPB	HP:0030282	Posterior rib gap	HP:0040281	ORPHA:1393
6628	SNRPB	HP:0030282	Posterior rib gap	10/15	OMIM:117650
6628	SNRPB	HP:0030280	Rib gap	-	OMIM:117650
6628	SNRPB	HP:0000413	Atresia of the external auditory canal	HP:0040282	ORPHA:1393
6628	SNRPB	HP:0001840	Metatarsus adductus	-	OMIM:615777
6628	SNRPB	HP:0000520	Proptosis	2/4	OMIM:131300
6628	SNRPB	HP:0000520	Proptosis	7/7	OMIM:615777
6628	SNRPB	HP:0000592	Blue sclerae	2/7	OMIM:615777
6628	SNRPB	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6628	SNRPB	HP:0012514	Lower limb pain	4/4	OMIM:131300
6635	SNRPE	HP:0100840	Aplasia/Hypoplasia of the eyebrow	-	OMIM:615059
6635	SNRPE	HP:0000006	Autosomal dominant inheritance	-	OMIM:615059
6635	SNRPE	HP:0002221	Absent axillary hair	-	OMIM:615059
6635	SNRPE	HP:0200102	Sparse or absent eyelashes	-	OMIM:615059
6635	SNRPE	HP:0002231	Sparse body hair	HP:0040281	ORPHA:55654
6635	SNRPE	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:55654
6635	SNRPE	HP:0002289	Alopecia universalis	2/8	OMIM:615059
6635	SNRPE	HP:0000653	Sparse eyelashes	HP:0040281	ORPHA:55654
6635	SNRPE	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:55654
6635	SNRPE	HP:0008070	Sparse hair	8/8	OMIM:615059
6635	SNRPE	HP:0008070	Sparse hair	HP:0040282	ORPHA:55654
6635	SNRPE	HP:0001596	Alopecia	HP:0040281	ORPHA:55654
6638	SNRPN	HP:0001156	Brachydactyly	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0002465	Poor speech	HP:0040283	ORPHA:411515
6638	SNRPN	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:177907
6638	SNRPN	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0007240	Progressive gait ataxia	-	OMIM:105830
6638	SNRPN	HP:0010864	Intellectual disability, severe	27/27	OMIM:105830
6638	SNRPN	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0003745	Sporadic	-	OMIM:209850
6638	SNRPN	HP:0003745	Sporadic	HP:0040282	OMIM:105830
6638	SNRPN	HP:0001290	Generalized hypotonia	-	OMIM:105830
6638	SNRPN	HP:0001270	Motor delay	27/27	OMIM:105830
6638	SNRPN	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:177901
6638	SNRPN	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:177907
6638	SNRPN	HP:0001250	Seizure	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0001250	Seizure	HP:0040283	ORPHA:177901
6638	SNRPN	HP:0001250	Seizure	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0001250	Seizure	HP:0040282	ORPHA:411515
6638	SNRPN	HP:0001250	Seizure	26/27	OMIM:105830
6638	SNRPN	HP:0001250	Seizure	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0001250	Seizure	HP:0040282	OMIM:209850
6638	SNRPN	HP:0001252	Hypotonia	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0001252	Hypotonia	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0001252	Hypotonia	-	OMIM:105830
6638	SNRPN	HP:0001252	Hypotonia	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0001251	Ataxia	HP:0040283	ORPHA:411515
6638	SNRPN	HP:0001251	Ataxia	27/27	OMIM:105830
6638	SNRPN	HP:0001249	Intellectual disability	-	OMIM:209850
6638	SNRPN	HP:0002578	Gastroparesis	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0002578	Gastroparesis	HP:0040283	ORPHA:177901
6638	SNRPN	HP:0002578	Gastroparesis	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0002591	Polyphagia	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0002591	Polyphagia	HP:0040281	ORPHA:177904
6638	SNRPN	HP:0002591	Polyphagia	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0002591	Polyphagia	HP:0040282	ORPHA:177910
6638	SNRPN	HP:0002591	Polyphagia	HP:0040282	ORPHA:411515
6638	SNRPN	HP:0001263	Global developmental delay	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0001263	Global developmental delay	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0001263	Global developmental delay	HP:0040282	ORPHA:177910
6638	SNRPN	HP:0001263	Global developmental delay	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0001263	Global developmental delay	27/27	OMIM:105830
6638	SNRPN	HP:0001263	Global developmental delay	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0008770	Obsessive-compulsive trait	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0008770	Obsessive-compulsive trait	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:411515
6638	SNRPN	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:177910
6638	SNRPN	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:177907
6638	SNRPN	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0000046	Small scrotum	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0000046	Small scrotum	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0000046	Small scrotum	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:177901
6638	SNRPN	HP:0001347	Hyperreflexia	-	OMIM:105830
6638	SNRPN	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:98754
6638	SNRPN	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:177904
6638	SNRPN	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:177901
6638	SNRPN	HP:0008872	Feeding difficulties in infancy	20/26	OMIM:105830
6638	SNRPN	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:98754
6638	SNRPN	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:177904
6638	SNRPN	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:177901
6638	SNRPN	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:177910
6638	SNRPN	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:177907
6638	SNRPN	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:411515
6638	SNRPN	HP:0031169	Postterm pregnancy	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0031169	Postterm pregnancy	HP:0040283	ORPHA:177901
6638	SNRPN	HP:0031169	Postterm pregnancy	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0001328	Specific learning disability	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0001328	Specific learning disability	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0001328	Specific learning disability	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0001344	Absent speech	27/27	OMIM:105830
6638	SNRPN	HP:0001344	Absent speech	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0001344	Absent speech	HP:0040283	ORPHA:411515
6638	SNRPN	HP:0000006	Autosomal dominant inheritance	-	OMIM:105830
6638	SNRPN	HP:0002650	Scoliosis	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0002650	Scoliosis	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0002650	Scoliosis	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0002650	Scoliosis	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0002650	Scoliosis	-	OMIM:105830
6638	SNRPN	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:177910
6638	SNRPN	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:177907
6638	SNRPN	HP:0031100	Decreased circulating inhibin B concentration	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0031100	Decreased circulating inhibin B concentration	HP:0040283	ORPHA:177901
6638	SNRPN	HP:0031100	Decreased circulating inhibin B concentration	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0000193	Bifid uvula	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0012166	Skin-picking	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0012166	Skin-picking	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0012166	Skin-picking	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0012166	Skin-picking	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0012168	Head-banging	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000158	Macroglossia	-	OMIM:105830
6638	SNRPN	HP:0000175	Cleft palate	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000154	Wide mouth	-	OMIM:105830
6638	SNRPN	HP:0000154	Wide mouth	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000154	Wide mouth	HP:0040283	ORPHA:411515
6638	SNRPN	HP:0006347	Microdontia of primary teeth	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0008947	Floppy infant	HP:0040282	ORPHA:411515
6638	SNRPN	HP:0012104	Parietal cortical atrophy	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0012104	Parietal cortical atrophy	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0012104	Parietal cortical atrophy	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0012105	Occipital cortical atrophy	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0012105	Occipital cortical atrophy	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0012105	Occipital cortical atrophy	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0001426	Non-Mendelian inheritance	-	OMIM:209850
6638	SNRPN	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:177901
6638	SNRPN	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:177907
6638	SNRPN	HP:0002019	Constipation	-	OMIM:105830
6638	SNRPN	HP:0002033	Poor suck	HP:0040281	ORPHA:177907
6638	SNRPN	HP:0002098	Respiratory distress	HP:0040282	ORPHA:177907
6638	SNRPN	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0011787	Central hypothyroidism	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0011787	Central hypothyroidism	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0002120	Cerebral cortical atrophy	-	OMIM:105830
6638	SNRPN	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:98754
6638	SNRPN	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:177904
6638	SNRPN	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:177901
6638	SNRPN	HP:0002136	Broad-based gait	HP:0040281	OMIM:105830
6638	SNRPN	HP:0002136	Broad-based gait	HP:0040283	ORPHA:411515
6638	SNRPN	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:177907
6638	SNRPN	HP:0100739	Bulimia	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0100739	Bulimia	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0100739	Bulimia	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0002286	Fair hair	-	OMIM:105830
6638	SNRPN	HP:0200085	Limb tremor	-	OMIM:105830
6638	SNRPN	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0200096	Triangular-shaped open mouth	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:177907
6638	SNRPN	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0002342	Intellectual disability, moderate	HP:0040284	ORPHA:98754
6638	SNRPN	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0001010	Hypopigmentation of the skin	HP:0040284	ORPHA:177910
6638	SNRPN	HP:0001010	Hypopigmentation of the skin	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0001010	Hypopigmentation of the skin	19/26	OMIM:105830
6638	SNRPN	HP:0001010	Hypopigmentation of the skin	HP:0040284	ORPHA:98754
6638	SNRPN	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:411515
6638	SNRPN	HP:0002353	EEG abnormality	35/35	OMIM:105830
6638	SNRPN	HP:0002353	EEG abnormality	HP:0040282	OMIM:209850
6638	SNRPN	HP:0002353	EEG abnormality	HP:0040282	ORPHA:411515
6638	SNRPN	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:177901
6638	SNRPN	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0010808	Protruding tongue	-	OMIM:105830
6638	SNRPN	HP:0010801	Underdeveloped nasolabial fold	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0200055	Small hand	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0200055	Small hand	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0200055	Small hand	HP:0040282	ORPHA:177910
6638	SNRPN	HP:0200055	Small hand	HP:0040282	ORPHA:177907
6638	SNRPN	HP:0200055	Small hand	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0010741	Pedal edema	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0010741	Pedal edema	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0010741	Pedal edema	HP:0040283	ORPHA:177901
6638	SNRPN	HP:0002312	Clumsiness	HP:0040281	OMIM:105830
6638	SNRPN	HP:0002307	Drooling	-	OMIM:105830
6638	SNRPN	HP:0002307	Drooling	HP:0040283	ORPHA:411515
6638	SNRPN	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0006829	Severe muscular hypotonia	HP:0040282	ORPHA:177907
6638	SNRPN	HP:0009085	Alveolar ridge overgrowth	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0004283	Narrow palm	HP:0040283	ORPHA:177910
6638	SNRPN	HP:0005599	Hypopigmentation of hair	HP:0040284	ORPHA:98754
6638	SNRPN	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0005599	Hypopigmentation of hair	HP:0040284	ORPHA:177910
6638	SNRPN	HP:0005599	Hypopigmentation of hair	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:411515
6638	SNRPN	HP:0006889	Intellectual disability, borderline	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0006889	Intellectual disability, borderline	HP:0040283	ORPHA:177901
6638	SNRPN	HP:0006889	Intellectual disability, borderline	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0006887	Intellectual disability, progressive	-	OMIM:105830
6638	SNRPN	HP:0000639	Nystagmus	-	OMIM:105830
6638	SNRPN	HP:0000635	Blue irides	-	OMIM:105830
6638	SNRPN	HP:0000601	Hypotelorism	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000687	Widely spaced teeth	-	OMIM:105830
6638	SNRPN	HP:0012650	Perisylvian polymicrogyria	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0012650	Perisylvian polymicrogyria	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0012650	Perisylvian polymicrogyria	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0000670	Carious teeth	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:177910
6638	SNRPN	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:177907
6638	SNRPN	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:411515
6638	SNRPN	HP:0004322	Short stature	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0004322	Short stature	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0004322	Short stature	HP:0040282	ORPHA:177910
6638	SNRPN	HP:0004322	Short stature	HP:0040282	ORPHA:177907
6638	SNRPN	HP:0004322	Short stature	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0006979	Sleep-wake cycle disturbance	18/21	OMIM:105830
6638	SNRPN	HP:0006979	Sleep-wake cycle disturbance	HP:0040283	ORPHA:411515
6638	SNRPN	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0031936	Delayed ability to walk	22/22	OMIM:105830
6638	SNRPN	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:411515
6638	SNRPN	HP:0000758	Abnormal nonverbal communicative behavior	-	OMIM:209850
6638	SNRPN	HP:0000752	Hyperactivity	-	OMIM:105830
6638	SNRPN	HP:0000752	Hyperactivity	HP:0040283	ORPHA:411515
6638	SNRPN	HP:0000739	Anxiety	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000733	Motor stereotypy	-	OMIM:209850
6638	SNRPN	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000736	Short attention span	HP:0040283	ORPHA:411515
6638	SNRPN	HP:0000732	Inflexible adherence to routines	-	OMIM:209850
6638	SNRPN	HP:0000750	Delayed speech and language development	-	OMIM:209850
6638	SNRPN	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000749	Paroxysmal bursts of laughter	-	OMIM:105830
6638	SNRPN	HP:0000748	Inappropriate laughter	HP:0040282	ORPHA:411515
6638	SNRPN	HP:0012704	Widened subarachnoid space	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000717	Autism	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0000717	Autism	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0000717	Autism	-	OMIM:209850
6638	SNRPN	HP:0000717	Autism	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0000710	Hyperorality	HP:0040283	ORPHA:411515
6638	SNRPN	HP:0000729	Autistic behavior	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0000729	Autistic behavior	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0000729	Autistic behavior	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0000728	Impaired ability to form peer relationships	-	OMIM:209850
6638	SNRPN	HP:0000723	Restrictive behavior	-	OMIM:209850
6638	SNRPN	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000721	Lack of spontaneous play	-	OMIM:209850
6638	SNRPN	HP:0000709	Psychosis	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0000709	Psychosis	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0000709	Psychosis	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0000708	Atypical behavior	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0000708	Atypical behavior	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0000708	Atypical behavior	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0000708	Atypical behavior	HP:0040282	ORPHA:177910
6638	SNRPN	HP:0000708	Atypical behavior	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000708	Atypical behavior	HP:0040283	ORPHA:411515
6638	SNRPN	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0011463	Childhood onset	-	OMIM:209850
6638	SNRPN	HP:0012775	Stellate iris	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000789	Infertility	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0000789	Infertility	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0000789	Infertility	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0003196	Short nose	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0004485	Cessation of head growth	HP:0040283	ORPHA:411515
6638	SNRPN	HP:0003144	Increased serum serotonin	HP:0040282	OMIM:209850
6638	SNRPN	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0000826	Precocious puberty	HP:0040284	ORPHA:98754
6638	SNRPN	HP:0000826	Precocious puberty	HP:0040284	ORPHA:177904
6638	SNRPN	HP:0000826	Precocious puberty	HP:0040284	ORPHA:177901
6638	SNRPN	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:177907
6638	SNRPN	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0000823	Delayed puberty	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0000823	Delayed puberty	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0000823	Delayed puberty	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0040025	Clinodactyly of the 4th finger	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0040082	Happy demeanor	27/27	OMIM:105830
6638	SNRPN	HP:0040082	Happy demeanor	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0040082	Happy demeanor	HP:0040282	ORPHA:411515
6638	SNRPN	HP:0003241	External genital hypoplasia	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0003241	External genital hypoplasia	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0003241	External genital hypoplasia	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0003241	External genital hypoplasia	HP:0040284	ORPHA:177910
6638	SNRPN	HP:0003241	External genital hypoplasia	HP:0040282	ORPHA:177907
6638	SNRPN	HP:0000953	Hyperpigmentation of the skin	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000939	Osteoporosis	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0000939	Osteoporosis	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0000939	Osteoporosis	HP:0040283	ORPHA:177901
6638	SNRPN	HP:0000938	Osteopenia	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0000938	Osteopenia	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0000938	Osteopenia	HP:0040283	ORPHA:177901
6638	SNRPN	HP:0000278	Retrognathia	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0007730	Iris hypopigmentation	HP:0040284	ORPHA:177910
6638	SNRPN	HP:0007730	Iris hypopigmentation	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:411515
6638	SNRPN	HP:0007730	Iris hypopigmentation	HP:0040284	ORPHA:98754
6638	SNRPN	HP:0030084	Clinodactyly	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000252	Microcephaly	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000248	Brachycephaly	-	OMIM:105830
6638	SNRPN	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:177901
6638	SNRPN	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:177907
6638	SNRPN	HP:0000218	High palate	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000232	Everted lower lip vermilion	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:177901
6638	SNRPN	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:177910
6638	SNRPN	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:177901
6638	SNRPN	HP:0002871	Central apnea	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0002871	Central apnea	HP:0040283	ORPHA:177901
6638	SNRPN	HP:0002871	Central apnea	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0001508	Failure to thrive	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0001508	Failure to thrive	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0001508	Failure to thrive	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0001518	Small for gestational age	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0001518	Small for gestational age	HP:0040283	ORPHA:177904
6638	SNRPN	HP:0001518	Small for gestational age	HP:0040283	ORPHA:177901
6638	SNRPN	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0001513	Obesity	-	OMIM:105830
6638	SNRPN	HP:0001513	Obesity	HP:0040281	ORPHA:98754
6638	SNRPN	HP:0001513	Obesity	HP:0040281	ORPHA:177904
6638	SNRPN	HP:0001513	Obesity	HP:0040281	ORPHA:177901
6638	SNRPN	HP:0001513	Obesity	HP:0040282	ORPHA:177910
6638	SNRPN	HP:0001513	Obesity	HP:0040281	ORPHA:177907
6638	SNRPN	HP:0001513	Obesity	HP:0040282	ORPHA:411515
6638	SNRPN	HP:0031507	Decreased circulating T4 concentration	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0031507	Decreased circulating T4 concentration	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0031507	Decreased circulating T4 concentration	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:177907
6638	SNRPN	HP:0007874	Almond-shaped palpebral fissure	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0001612	Weak cry	HP:0040281	ORPHA:177907
6638	SNRPN	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000341	Narrow forehead	HP:0040282	ORPHA:177907
6638	SNRPN	HP:0000347	Micrognathia	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000316	Hypertelorism	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000327	Hypoplasia of the maxilla	-	OMIM:105830
6638	SNRPN	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000303	Mandibular prognathia	-	OMIM:105830
6638	SNRPN	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:411515
6638	SNRPN	HP:0004039	Abnormal ulnar metaphysis morphology	HP:0040283	ORPHA:177910
6638	SNRPN	HP:0000486	Strabismus	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0000486	Strabismus	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0000486	Strabismus	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0000486	Strabismus	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000486	Strabismus	-	OMIM:105830
6638	SNRPN	HP:0000490	Deeply set eye	-	OMIM:105830
6638	SNRPN	HP:0000490	Deeply set eye	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000463	Anteverted nares	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000455	Broad nasal tip	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000470	Short neck	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0012433	Abnormal social behavior	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0001773	Short foot	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0001773	Short foot	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0001773	Short foot	HP:0040282	ORPHA:177910
6638	SNRPN	HP:0001773	Short foot	HP:0040282	ORPHA:177907
6638	SNRPN	HP:0001773	Short foot	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0001763	Pes planus	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0012411	Premature pubarche	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0012411	Premature pubarche	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0012411	Premature pubarche	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0012412	Premature adrenarche	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0012412	Premature adrenarche	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0012412	Premature adrenarche	HP:0040283	ORPHA:98754
6638	SNRPN	HP:0000448	Prominent nose	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000446	Narrow nasal bridge	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0001776	Bilateral talipes equinovarus	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0005484	Secondary microcephaly	20/20	OMIM:105830
6638	SNRPN	HP:0005469	Flat occiput	-	OMIM:105830
6638	SNRPN	HP:0005469	Flat occiput	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0001845	Overlapping toe	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000520	Proptosis	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0030339	Decreased circulating gonadotropin concentration	HP:0040282	ORPHA:177904
6638	SNRPN	HP:0030339	Decreased circulating gonadotropin concentration	HP:0040282	ORPHA:177901
6638	SNRPN	HP:0030339	Decreased circulating gonadotropin concentration	HP:0040282	ORPHA:98754
6638	SNRPN	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000577	Exotropia	-	OMIM:105830
6638	SNRPN	HP:0000540	Hypermetropia	HP:0040283	ORPHA:177907
6638	SNRPN	HP:0000545	Myopia	-	OMIM:105830
6638	SNRPN	HP:0000545	Myopia	HP:0040283	ORPHA:177907
6640	SNTA1	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
6640	SNTA1	HP:0001279	Syncope	HP:0040282	ORPHA:101016
6640	SNTA1	HP:0001279	Syncope	1/1	OMIM:612955
6640	SNTA1	HP:0001250	Seizure	HP:0040283	ORPHA:101016
6640	SNTA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:612955
6640	SNTA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
6640	SNTA1	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
6640	SNTA1	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
6640	SNTA1	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
6640	SNTA1	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
6640	SNTA1	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
6640	SNTA1	HP:0005184	Prolonged QTc interval	1/1	OMIM:612955
6640	SNTA1	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
6640	SNTA1	HP:0000365	Hearing impairment	-	ORPHA:101016
6640	SNTA1	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
6640	SNTA1	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
6640	SNTA1	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
6640	SNTA1	HP:0001664	Torsade de pointes	1/46	OMIM:115000
6640	SNTA1	HP:0001664	Torsade de pointes	-	OMIM:612955
6640	SNTA1	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
6640	SNTA1	HP:0001645	Sudden cardiac death	-	OMIM:115000
6640	SNTA1	HP:0001663	Ventricular fibrillation	-	OMIM:115000
6640	SNTA1	HP:0001663	Ventricular fibrillation	-	OMIM:612955
6640	SNTA1	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
6640	SNTA1	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
6640	SNTA1	HP:0025708	Early young adult onset	1/1	OMIM:612955
6647	SOD1	HP:0002463	Language impairment	HP:0040283	ORPHA:803
6647	SOD1	HP:0007256	Abnormal pyramidal sign	1/1	OMIM:618598
6647	SOD1	HP:0002411	Myokymia	1/1	OMIM:618598
6647	SOD1	HP:0001276	Hypertonia	1/1	OMIM:618598
6647	SOD1	HP:0001272	Cerebellar atrophy	1/1	OMIM:618598
6647	SOD1	HP:0001285	Spastic tetraparesis	1/1	OMIM:618598
6647	SOD1	HP:0001251	Ataxia	1/1	OMIM:618598
6647	SOD1	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
6647	SOD1	HP:0001260	Dysarthria	-	OMIM:105400
6647	SOD1	HP:0001257	Spasticity	HP:0040282	ORPHA:803
6647	SOD1	HP:0001257	Spasticity	-	OMIM:105400
6647	SOD1	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
6647	SOD1	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
6647	SOD1	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:105400
6647	SOD1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
6647	SOD1	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
6647	SOD1	HP:0001347	Hyperreflexia	1/1	OMIM:618598
6647	SOD1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
6647	SOD1	HP:0001347	Hyperreflexia	-	OMIM:105400
6647	SOD1	HP:0001324	Muscle weakness	-	OMIM:105400
6647	SOD1	HP:0001344	Absent speech	1/1	OMIM:618598
6647	SOD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:105400
6647	SOD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618598
6647	SOD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:105400
6647	SOD1	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
6647	SOD1	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
6647	SOD1	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
6647	SOD1	HP:0008936	Axial hypotonia	2/2	OMIM:618598
6647	SOD1	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
6647	SOD1	HP:0002015	Dysphagia	-	OMIM:105400
6647	SOD1	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
6647	SOD1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
6647	SOD1	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
6647	SOD1	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
6647	SOD1	HP:0003394	Muscle spasm	-	OMIM:105400
6647	SOD1	HP:0002061	Lower limb spasticity	1/1	OMIM:618598
6647	SOD1	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
6647	SOD1	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
6647	SOD1	HP:0003470	Paralysis	HP:0040282	ORPHA:803
6647	SOD1	HP:0003487	Babinski sign	2/2	OMIM:618598
6647	SOD1	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
6647	SOD1	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
6647	SOD1	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:618598
6647	SOD1	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
6647	SOD1	HP:0010535	Sleep apnea	-	OMIM:105400
6647	SOD1	HP:0002267	Exaggerated startle response	1/1	OMIM:618598
6647	SOD1	HP:0003593	Infantile onset	1/1	OMIM:618598
6647	SOD1	HP:0003581	Adult onset	-	OMIM:105400
6647	SOD1	HP:0007024	Pseudobulbar paralysis	-	OMIM:105400
6647	SOD1	HP:0002380	Fasciculations	1/2	OMIM:618598
6647	SOD1	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
6647	SOD1	HP:0002380	Fasciculations	-	OMIM:105400
6647	SOD1	HP:0002398	Degeneration of anterior horn cells	-	OMIM:105400
6647	SOD1	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
6647	SOD1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
6647	SOD1	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
6647	SOD1	HP:0002314	Degeneration of the lateral corticospinal tracts	-	OMIM:105400
6647	SOD1	HP:0002307	Drooling	HP:0040282	ORPHA:803
6647	SOD1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
6647	SOD1	HP:0004326	Cachexia	HP:0040283	ORPHA:803
6647	SOD1	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
6647	SOD1	HP:0000739	Anxiety	HP:0040282	ORPHA:803
6647	SOD1	HP:0000716	Depression	HP:0040282	ORPHA:803
6647	SOD1	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
6647	SOD1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
6647	SOD1	HP:0011448	Ankle clonus	1/1	OMIM:618598
6647	SOD1	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
6647	SOD1	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
6647	SOD1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
6647	SOD1	HP:0003202	Skeletal muscle atrophy	-	OMIM:105400
6647	SOD1	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
6647	SOD1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
6647	SOD1	HP:0001561	Polyhydramnios	1/1	OMIM:618598
6647	SOD1	HP:0012378	Fatigue	HP:0040282	ORPHA:803
6647	SOD1	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
6647	SOD1	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
6647	SOD1	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
6647	SOD1	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
6647	SOD1	HP:0000358	Posteriorly rotated ears	1/1	OMIM:618598
6647	SOD1	HP:0000369	Low-set ears	1/1	OMIM:618598
6647	SOD1	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
6647	SOD1	HP:0001845	Overlapping toe	1/1	OMIM:618598
6647	SOD1	HP:0001824	Weight loss	HP:0040282	ORPHA:803
6647	SOD1	HP:0012531	Pain	HP:0040282	ORPHA:803
6650	CAPN15	HP:0020206	Simple ear	2/5	OMIM:619318
6650	CAPN15	HP:0001263	Global developmental delay	3/5	OMIM:619318
6650	CAPN15	HP:0008751	Laryngeal cleft	1/5	OMIM:619318
6650	CAPN15	HP:0000085	Horseshoe kidney	1/5	OMIM:619318
6650	CAPN15	HP:0000007	Autosomal recessive inheritance	-	OMIM:619318
6650	CAPN15	HP:0007687	Unilateral ptosis	1/5	OMIM:619318
6650	CAPN15	HP:0007633	Bilateral microphthalmos	1/5	OMIM:619318
6650	CAPN15	HP:0002023	Anal atresia	2/5	OMIM:619318
6650	CAPN15	HP:0003577	Congenital onset	5/5	OMIM:619318
6650	CAPN15	HP:0001007	Hirsutism	1/5	OMIM:619318
6650	CAPN15	HP:0009765	Low hanging columella	1/5	OMIM:619318
6650	CAPN15	HP:0004322	Short stature	1/5	OMIM:619318
6650	CAPN15	HP:0004320	Vaginal fistula	1/5	OMIM:619318
6650	CAPN15	HP:0000729	Autistic behavior	2/5	OMIM:619318
6650	CAPN15	HP:0011480	Unilateral microphthalmos	1/5	OMIM:619318
6650	CAPN15	HP:0000960	Sacral dimple	1/5	OMIM:619318
6650	CAPN15	HP:0000252	Microcephaly	1/5	OMIM:619318
6650	CAPN15	HP:0002937	Hemivertebrae	1/5	OMIM:619318
6650	CAPN15	HP:0001618	Dysphonia	1/5	OMIM:619318
6650	CAPN15	HP:0001647	Bicuspid aortic valve	1/5	OMIM:619318
6650	CAPN15	HP:0000589	Coloboma	4/5	OMIM:619318
6651	SON	HP:0025116	Fetal distress	HP:0040283	ORPHA:500150
6651	SON	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:500150
6651	SON	HP:0010864	Intellectual disability, severe	1/1	OMIM:617140
6651	SON	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:500150
6651	SON	HP:0009879	Simplified gyral pattern	HP:0040283	ORPHA:500150
6651	SON	HP:0001250	Seizure	11/20	OMIM:617140
6651	SON	HP:0001252	Hypotonia	20/26	OMIM:617140
6651	SON	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:500150
6651	SON	HP:0001249	Intellectual disability	HP:0040280	ORPHA:500150
6651	SON	HP:0001249	Intellectual disability	20/20	OMIM:617140
6651	SON	HP:0002578	Gastroparesis	HP:0040283	ORPHA:500150
6651	SON	HP:0001263	Global developmental delay	HP:0040281	ORPHA:500150
6651	SON	HP:0001263	Global developmental delay	9/9	OMIM:617140
6651	SON	HP:0001257	Spasticity	1/6	OMIM:617140
6651	SON	HP:0001257	Spasticity	HP:0040283	ORPHA:500150
6651	SON	HP:0008765	Auditory hallucination	HP:0040283	ORPHA:500150
6651	SON	HP:0002538	Abnormal cerebral cortex morphology	HP:0040282	ORPHA:500150
6651	SON	HP:0002500	Abnormal cerebral white matter morphology	4/19	OMIM:617140
6651	SON	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:500150
6651	SON	HP:0000085	Horseshoe kidney	2/20	OMIM:617140
6651	SON	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:500150
6651	SON	HP:0001371	Flexion contracture	2/20	OMIM:617140
6651	SON	HP:0025336	Delayed ability to sit	1/1	OMIM:617140
6651	SON	HP:0001382	Joint hypermobility	3/7	OMIM:617140
6651	SON	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:500150
6651	SON	HP:0001363	Craniosynostosis	3/20	OMIM:617140
6651	SON	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:617140
6651	SON	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:500150
6651	SON	HP:0000006	Autosomal dominant inheritance	-	OMIM:617140
6651	SON	HP:0002650	Scoliosis	1/7	OMIM:617140
6651	SON	HP:0001321	Cerebellar hypoplasia	-	OMIM:617140
6651	SON	HP:0001319	Neonatal hypotonia	1/1	OMIM:617140
6651	SON	HP:0000193	Bifid uvula	1/7	OMIM:617140
6651	SON	HP:0000193	Bifid uvula	HP:0040283	ORPHA:500150
6651	SON	HP:0000164	Abnormality of the dentition	-	OMIM:617140
6651	SON	HP:0000160	Narrow mouth	-	OMIM:617140
6651	SON	HP:0000176	Submucous cleft hard palate	1/7	OMIM:617140
6651	SON	HP:0000175	Cleft palate	HP:0040283	ORPHA:500150
6651	SON	HP:0008947	Floppy infant	HP:0040282	ORPHA:500150
6651	SON	HP:0000122	Unilateral renal agenesis	1/7	OMIM:617140
6651	SON	HP:0000122	Unilateral renal agenesis	HP:0040283	ORPHA:500150
6651	SON	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:500150
6651	SON	HP:0000103	Polyuria	1/1	OMIM:617140
6651	SON	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:500150
6651	SON	HP:0002719	Recurrent infections	HP:0040283	ORPHA:500150
6651	SON	HP:0002714	Downturned corners of mouth	1/7	OMIM:617140
6651	SON	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:500150
6651	SON	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:500150
6651	SON	HP:0002028	Chronic diarrhea	2/7	OMIM:617140
6651	SON	HP:0002028	Chronic diarrhea	HP:0040283	ORPHA:500150
6651	SON	HP:0002015	Dysphagia	HP:0040283	ORPHA:500150
6651	SON	HP:0002007	Frontal bossing	2/7	OMIM:617140
6651	SON	HP:0002007	Frontal bossing	HP:0040283	ORPHA:500150
6651	SON	HP:0011819	Submucous cleft soft palate	HP:0040283	ORPHA:500150
6651	SON	HP:0011800	Midface retrusion	6/7	OMIM:617140
6651	SON	HP:0002097	Emphysema	HP:0040283	ORPHA:500150
6651	SON	HP:0002079	Hypoplasia of the corpus callosum	1/7	OMIM:617140
6651	SON	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:500150
6651	SON	HP:0033128	Delayed ability to crawl	1/1	OMIM:617140
6651	SON	HP:0010485	Hyperextensibility at elbow	HP:0040283	ORPHA:500150
6651	SON	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:500150
6651	SON	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:500150
6651	SON	HP:0002119	Ventriculomegaly	14/19	OMIM:617140
6651	SON	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:500150
6651	SON	HP:0002133	Status epilepticus	1/20	OMIM:617140
6651	SON	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:500150
6651	SON	HP:0002197	Generalized-onset seizure	HP:0040282	ORPHA:500150
6651	SON	HP:0003593	Infantile onset	1/1	OMIM:617140
6651	SON	HP:0100704	Cerebral visual impairment	-	OMIM:617140
6651	SON	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:500150
6651	SON	HP:0100702	Arachnoid cyst	1/7	OMIM:617140
6651	SON	HP:0100702	Arachnoid cyst	HP:0040283	ORPHA:500150
6651	SON	HP:0002212	Curly hair	1/1	OMIM:617140
6651	SON	HP:0002212	Curly hair	HP:0040283	ORPHA:500150
6651	SON	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:500150
6651	SON	HP:0011968	Feeding difficulties	7/7	OMIM:617140
6651	SON	HP:0430021	Abnormal common carotid artery morphology	HP:0040283	ORPHA:500150
6651	SON	HP:0003508	Proportionate short stature	HP:0040282	ORPHA:500150
6651	SON	HP:0001027	Soft, doughy skin	HP:0040283	ORPHA:500150
6651	SON	HP:0002376	Developmental regression	3/7	OMIM:617140
6651	SON	HP:0002376	Developmental regression	HP:0040283	ORPHA:500150
6651	SON	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:500150
6651	SON	HP:0200055	Small hand	-	OMIM:617140
6651	SON	HP:0009777	Absent thumb	HP:0040283	ORPHA:500150
6651	SON	HP:0007100	Progressive ventriculomegaly	HP:0040283	ORPHA:500150
6651	SON	HP:0002308	Chiari malformation	HP:0040283	ORPHA:500150
6651	SON	HP:0000639	Nystagmus	HP:0040283	ORPHA:500150
6651	SON	HP:0000648	Optic atrophy	-	OMIM:617140
6651	SON	HP:0000648	Optic atrophy	HP:0040283	ORPHA:500150
6651	SON	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:500150
6651	SON	HP:0011330	Metopic synostosis	HP:0040283	ORPHA:500150
6651	SON	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:500150
6651	SON	HP:0006989	Dysplastic corpus callosum	HP:0040283	ORPHA:500150
6651	SON	HP:0006989	Dysplastic corpus callosum	1/7	OMIM:617140
6651	SON	HP:0004322	Short stature	10/20	OMIM:617140
6651	SON	HP:0004315	Decreased circulating IgG concentration	HP:0040283	ORPHA:500150
6651	SON	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:500150
6651	SON	HP:0006970	Periventricular leukomalacia	1/7	OMIM:617140
6651	SON	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:500150
6651	SON	HP:0005639	Hyperextensible hand joints	HP:0040283	ORPHA:500150
6651	SON	HP:0031936	Delayed ability to walk	1/1	OMIM:617140
6651	SON	HP:0000729	Autistic behavior	3/7	OMIM:617140
6651	SON	HP:0000729	Autistic behavior	HP:0040282	ORPHA:500150
6651	SON	HP:0011467	Absent gallbladder	1/7	OMIM:617140
6651	SON	HP:0011467	Absent gallbladder	HP:0040283	ORPHA:500150
6651	SON	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:500150
6651	SON	HP:0004442	Sagittal craniosynostosis	HP:0040283	ORPHA:500150
6651	SON	HP:0004433	Secretory IgA deficiency	HP:0040283	ORPHA:500150
6651	SON	HP:0003100	Slender long bone	HP:0040283	ORPHA:500150
6651	SON	HP:0003196	Short nose	1/1	OMIM:617140
6651	SON	HP:0003196	Short nose	HP:0040283	ORPHA:500150
6651	SON	HP:0100307	Cerebellar hemisphere hypoplasia	HP:0040283	ORPHA:500150
6651	SON	HP:0000902	Rib fusion	HP:0040283	ORPHA:500150
6651	SON	HP:0000902	Rib fusion	1/7	OMIM:617140
6651	SON	HP:0004482	Relative macrocephaly	1/1	OMIM:617140
6651	SON	HP:0004482	Relative macrocephaly	HP:0040283	ORPHA:500150
6651	SON	HP:0030707	Unilateral lung agenesis	1/7	OMIM:617140
6651	SON	HP:0030707	Unilateral lung agenesis	HP:0040283	ORPHA:500150
6651	SON	HP:0000891	Cervical ribs	2/7	OMIM:617140
6651	SON	HP:0000891	Cervical ribs	HP:0040283	ORPHA:500150
6651	SON	HP:0045075	Sparse eyebrow	1/1	OMIM:617140
6651	SON	HP:0045075	Sparse eyebrow	HP:0040283	ORPHA:500150
6651	SON	HP:0011648	Patent ductus arteriosus after birth at term	HP:0040283	ORPHA:500150
6651	SON	HP:0000974	Hyperextensible skin	1/1	OMIM:617140
6651	SON	HP:0000286	Epicanthus	HP:0040283	ORPHA:500150
6651	SON	HP:0000286	Epicanthus	4/8	OMIM:617140
6651	SON	HP:0000293	Full cheeks	2/8	OMIM:617140
6651	SON	HP:0000293	Full cheeks	HP:0040283	ORPHA:500150
6651	SON	HP:0000256	Macrocephaly	1/1	OMIM:617140
6651	SON	HP:0002808	Kyphosis	-	OMIM:617140
6651	SON	HP:0002878	Respiratory failure	HP:0040283	ORPHA:500150
6651	SON	HP:0000218	High palate	-	OMIM:617140
6651	SON	HP:0000233	Thin vermilion border	5/7	OMIM:617140
6651	SON	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:500150
6651	SON	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:500150
6651	SON	HP:0001508	Failure to thrive	3/7	OMIM:617140
6651	SON	HP:0001511	Intrauterine growth retardation	5/7	OMIM:617140
6651	SON	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:500150
6651	SON	HP:0001510	Growth delay	1/1	OMIM:617140
6651	SON	HP:0002937	Hemivertebrae	2/10	OMIM:617140
6651	SON	HP:0002937	Hemivertebrae	HP:0040283	ORPHA:500150
6651	SON	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:500150
6651	SON	HP:0000365	Hearing impairment	HP:0040283	ORPHA:500150
6651	SON	HP:0000369	Low-set ears	HP:0040283	ORPHA:500150
6651	SON	HP:0000369	Low-set ears	-	OMIM:617140
6651	SON	HP:0000341	Narrow forehead	2/7	OMIM:617140
6651	SON	HP:0000341	Narrow forehead	HP:0040283	ORPHA:500150
6651	SON	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:500150
6651	SON	HP:0001643	Patent ductus arteriosus	1/7	OMIM:617140
6651	SON	HP:0000327	Hypoplasia of the maxilla	1/1	OMIM:617140
6651	SON	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:500150
6651	SON	HP:0001659	Aortic regurgitation	1/1	OMIM:617140
6651	SON	HP:0000322	Short philtrum	-	OMIM:617140
6651	SON	HP:0000322	Short philtrum	HP:0040283	ORPHA:500150
6651	SON	HP:0000324	Facial asymmetry	-	OMIM:617140
6651	SON	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:500150
6651	SON	HP:0001629	Ventricular septal defect	2/8	OMIM:617140
6651	SON	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:500150
6651	SON	HP:0001623	Breech presentation	1/1	OMIM:617140
6651	SON	HP:0001631	Atrial septal defect	1/7	OMIM:617140
6651	SON	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:500150
6651	SON	HP:0007933	Broad lateral eyebrow	HP:0040283	ORPHA:500150
6651	SON	HP:0032989	Delayed ability to roll over	1/1	OMIM:617140
6651	SON	HP:0005280	Depressed nasal bridge	-	OMIM:617140
6651	SON	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:500150
6651	SON	HP:0000486	Strabismus	HP:0040282	ORPHA:500150
6651	SON	HP:0000486	Strabismus	11/20	OMIM:617140
6651	SON	HP:0000494	Downslanted palpebral fissures	5/7	OMIM:617140
6651	SON	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:500150
6651	SON	HP:0000490	Deeply set eye	6/7	OMIM:617140
6651	SON	HP:0000490	Deeply set eye	HP:0040283	ORPHA:500150
6651	SON	HP:0012443	Abnormal brain morphology	HP:0040281	ORPHA:500150
6651	SON	HP:0001773	Short foot	-	OMIM:617140
6651	SON	HP:0011100	Intestinal atresia	1/1	OMIM:617140
6651	SON	HP:0000411	Protruding ear	1/1	OMIM:617140
6651	SON	HP:0000411	Protruding ear	HP:0040283	ORPHA:500150
6651	SON	HP:0000431	Wide nasal bridge	-	OMIM:617140
6651	SON	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:500150
6651	SON	HP:0000529	Progressive visual loss	HP:0040283	ORPHA:500150
6651	SON	HP:0012582	Bilateral renal dysplasia	HP:0040283	ORPHA:500150
6651	SON	HP:0000577	Exotropia	HP:0040283	ORPHA:500150
6651	SON	HP:0000592	Blue sclerae	HP:0040283	ORPHA:500150
6651	SON	HP:0011229	Broad eyebrow	1/7	OMIM:617140
6651	SON	HP:0011220	Prominent forehead	1/1	OMIM:617140
6651	SON	HP:0011220	Prominent forehead	HP:0040283	ORPHA:500150
6651	SON	HP:0000565	Esotropia	HP:0040283	ORPHA:500150
6651	SON	HP:0000540	Hypermetropia	6/20	OMIM:617140
6651	SON	HP:0000540	Hypermetropia	HP:0040282	ORPHA:500150
6651	SON	HP:0000545	Myopia	HP:0040283	ORPHA:500150
6652	SORD	HP:0002495	Impaired vibratory sensation	17/40	OMIM:618912
6652	SORD	HP:0007328	Impaired pain sensation	13/39	OMIM:618912
6652	SORD	HP:0001288	Gait disturbance	-	OMIM:618912
6652	SORD	HP:0000007	Autosomal recessive inheritance	-	OMIM:618912
6652	SORD	HP:0002650	Scoliosis	-	OMIM:618912
6652	SORD	HP:0008994	Proximal muscle weakness in lower limbs	2/44	OMIM:618912
6652	SORD	HP:0008959	Distal upper limb muscle weakness	26/44	OMIM:618912
6652	SORD	HP:0033124	Increased serum sorbitol concentration	10/10	OMIM:618912
6652	SORD	HP:0003431	Decreased motor nerve conduction velocity	11/42	OMIM:618912
6652	SORD	HP:0007078	Decreased amplitude of sensory action potentials	26/40	OMIM:618912
6652	SORD	HP:0009053	Distal lower limb muscle weakness	43/44	OMIM:618912
6652	SORD	HP:0001761	Pes cavus	-	OMIM:618912
6653	SORL1	HP:0002463	Language impairment	HP:0040281	ORPHA:1020
6653	SORL1	HP:0003791	Deposits immunoreactive to beta-amyloid protein	HP:0040281	ORPHA:1020
6653	SORL1	HP:0001276	Hypertonia	HP:0040281	ORPHA:1020
6653	SORL1	HP:0001289	Confusion	HP:0040281	ORPHA:1020
6653	SORL1	HP:0001250	Seizure	HP:0040281	ORPHA:1020
6653	SORL1	HP:0001251	Ataxia	HP:0040283	ORPHA:1020
6653	SORL1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:1020
6653	SORL1	HP:0001336	Myoclonus	HP:0040281	ORPHA:1020
6653	SORL1	HP:0001300	Parkinsonism	HP:0040281	ORPHA:1020
6653	SORL1	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1020
6653	SORL1	HP:0002186	Apraxia	HP:0040283	ORPHA:1020
6653	SORL1	HP:0002185	Neurofibrillary tangles	HP:0040281	ORPHA:1020
6653	SORL1	HP:0010526	Dysgraphia	HP:0040283	ORPHA:1020
6653	SORL1	HP:0010525	Finger agnosia	HP:0040283	ORPHA:1020
6653	SORL1	HP:0002381	Aphasia	HP:0040283	ORPHA:1020
6653	SORL1	HP:0002354	Memory impairment	HP:0040281	ORPHA:1020
6653	SORL1	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:1020
6653	SORL1	HP:0000738	Hallucinations	HP:0040281	ORPHA:1020
6653	SORL1	HP:0000734	Disinhibition	HP:0040282	ORPHA:1020
6653	SORL1	HP:0000713	Agitation	HP:0040281	ORPHA:1020
6653	SORL1	HP:0000726	Dementia	HP:0040281	ORPHA:1020
6653	SORL1	HP:0011446	Abnormality of mental function	HP:0040283	ORPHA:1020
6653	SORL1	HP:0012759	Neurodevelopmental abnormality	HP:0040281	ORPHA:1020
6653	SORL1	HP:0030219	Semantic dementia	HP:0040283	ORPHA:1020
6653	SORL1	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:1020
6653	SORL1	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1020
6654	SOS1	HP:0001156	Brachydactyly	HP:0040283	ORPHA:648
6654	SOS1	HP:0010946	Dilatation of the renal pelvis	HP:0040283	ORPHA:648
6654	SOS1	HP:0009890	High anterior hairline	-	OMIM:610733
6654	SOS1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6654	SOS1	HP:0001293	Cranial nerve compression	-	OMIM:131300
6654	SOS1	HP:0001252	Hypotonia	HP:0040282	ORPHA:648
6654	SOS1	HP:0001252	Hypotonia	2/7	OMIM:615777
6654	SOS1	HP:0001249	Intellectual disability	0/38	OMIM:135300
6654	SOS1	HP:0001249	Intellectual disability	6/40	OMIM:610733
6654	SOS1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:648
6654	SOS1	HP:0001249	Intellectual disability	5/7	OMIM:615777
6654	SOS1	HP:0001260	Dysarthria	HP:0040281	ORPHA:648
6654	SOS1	HP:0001263	Global developmental delay	-	OMIM:615777
6654	SOS1	HP:0002515	Waddling gait	54/102	OMIM:131300
6654	SOS1	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:648
6654	SOS1	HP:0000073	Ureteral duplication	1/13	OMIM:610733
6654	SOS1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:648
6654	SOS1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:648
6654	SOS1	HP:0001382	Joint hypermobility	-	OMIM:615777
6654	SOS1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6654	SOS1	HP:0000028	Cryptorchidism	5/9	OMIM:610733
6654	SOS1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:648
6654	SOS1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6654	SOS1	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:648
6654	SOS1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:648
6654	SOS1	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:648
6654	SOS1	HP:0001328	Specific learning disability	HP:0040283	ORPHA:648
6654	SOS1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6654	SOS1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:648
6654	SOS1	HP:0001324	Muscle weakness	40/96	OMIM:131300
6654	SOS1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6654	SOS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6654	SOS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:135300
6654	SOS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
6654	SOS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
6654	SOS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:610733
6654	SOS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6654	SOS1	HP:0002650	Scoliosis	1/1	OMIM:610733
6654	SOS1	HP:0002650	Scoliosis	HP:0040282	ORPHA:648
6654	SOS1	HP:0002650	Scoliosis	12/14	OMIM:131300
6654	SOS1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6654	SOS1	HP:0002619	Varicose veins	-	OMIM:153400
6654	SOS1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6654	SOS1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6654	SOS1	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:648
6654	SOS1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6654	SOS1	HP:0001488	Bilateral ptosis	1/1	OMIM:610733
6654	SOS1	HP:0000175	Cleft palate	5/39	OMIM:153400
6654	SOS1	HP:0000175	Cleft palate	2/7	OMIM:615777
6654	SOS1	HP:0000169	Gingival fibromatosis	38/38	OMIM:135300
6654	SOS1	HP:0000169	Gingival fibromatosis	HP:0040281	ORPHA:2024
6654	SOS1	HP:0000154	Wide mouth	14/16	OMIM:610733
6654	SOS1	HP:0000126	Hydronephrosis	1/13	OMIM:610733
6654	SOS1	HP:0002750	Delayed skeletal maturation	1/1	OMIM:610733
6654	SOS1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:648
6654	SOS1	HP:0011800	Midface retrusion	HP:0040281	ORPHA:648
6654	SOS1	HP:0003388	Easy fatigability	36/76	OMIM:131300
6654	SOS1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6654	SOS1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:648
6654	SOS1	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:648
6654	SOS1	HP:0011869	Abnormal platelet function	HP:0040282	ORPHA:648
6654	SOS1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:648
6654	SOS1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
6654	SOS1	HP:0002212	Curly hair	15/17	OMIM:610733
6654	SOS1	HP:0002208	Coarse hair	HP:0040282	ORPHA:648
6654	SOS1	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:648
6654	SOS1	HP:0009743	Distichiasis	42/42	OMIM:153400
6654	SOS1	HP:0003510	Severe short stature	7/7	OMIM:615777
6654	SOS1	HP:0001004	Lymphedema	HP:0040283	ORPHA:648
6654	SOS1	HP:0001004	Lymphedema	-	OMIM:153400
6654	SOS1	HP:0002315	Headache	-	OMIM:131300
6654	SOS1	HP:0004976	Knee dislocation	6/7	OMIM:615777
6654	SOS1	HP:0003645	Prolonged partial thromboplastin time	1/1	OMIM:610733
6654	SOS1	HP:0100658	Cellulitis	2/6	OMIM:153400
6654	SOS1	HP:0100625	Enlarged thorax	HP:0040281	ORPHA:648
6654	SOS1	HP:0009803	Short phalanx of finger	-	OMIM:615777
6654	SOS1	HP:0032152	Keratosis pilaris	9/17	OMIM:610733
6654	SOS1	HP:0009763	Limb pain	63/92	OMIM:131300
6654	SOS1	HP:0003621	Juvenile onset	-	OMIM:131300
6654	SOS1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6654	SOS1	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:648
6654	SOS1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
6654	SOS1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6654	SOS1	HP:0000639	Nystagmus	HP:0040283	ORPHA:648
6654	SOS1	HP:0000635	Blue irides	HP:0040282	ORPHA:648
6654	SOS1	HP:0000635	Blue irides	1/1	OMIM:610733
6654	SOS1	HP:6001056	Out-toeing	-	OMIM:131300
6654	SOS1	HP:0000651	Diplopia	-	OMIM:131300
6654	SOS1	HP:0000613	Photophobia	10/49	OMIM:153400
6654	SOS1	HP:0001956	Truncal obesity	2/7	OMIM:615777
6654	SOS1	HP:0001929	Reduced factor XI activity	1/1	OMIM:610733
6654	SOS1	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:648
6654	SOS1	HP:0001903	Anemia	HP:0040283	OMIM:131300
6654	SOS1	HP:0010049	Short metacarpal	-	OMIM:615777
6654	SOS1	HP:0011381	Aplasia of the semicircular canal	HP:0040283	ORPHA:648
6654	SOS1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
6654	SOS1	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:648
6654	SOS1	HP:0000678	Dental crowding	-	OMIM:615777
6654	SOS1	HP:0000689	Dental malocclusion	-	OMIM:610733
6654	SOS1	HP:0000656	Ectropion	2/43	OMIM:153400
6654	SOS1	HP:0000670	Carious teeth	-	OMIM:131300
6654	SOS1	HP:0011304	Broad thumb	2/7	OMIM:615777
6654	SOS1	HP:0000668	Hypodontia	-	OMIM:615777
6654	SOS1	HP:0000664	Synophrys	-	OMIM:615777
6654	SOS1	HP:0004322	Short stature	19/53	OMIM:610733
6654	SOS1	HP:0004322	Short stature	HP:0040281	ORPHA:648
6654	SOS1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:648
6654	SOS1	HP:0004396	Poor appetite	-	OMIM:131300
6654	SOS1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6654	SOS1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6654	SOS1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6654	SOS1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
6654	SOS1	HP:0003026	Short long bone	7/7	OMIM:615777
6654	SOS1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6654	SOS1	HP:0000767	Pectus excavatum	1/1	OMIM:610733
6654	SOS1	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:648
6654	SOS1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6654	SOS1	HP:0000766	Abnormal sternum morphology	16/16	OMIM:610733
6654	SOS1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6654	SOS1	HP:0000768	Pectus carinatum	HP:0040281	ORPHA:648
6654	SOS1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6654	SOS1	HP:0000750	Delayed speech and language development	-	OMIM:615777
6654	SOS1	HP:0011461	Fetal onset	7/7	OMIM:615777
6654	SOS1	HP:0011461	Fetal onset	1/1	OMIM:610733
6654	SOS1	HP:0000774	Narrow chest	2/7	OMIM:615777
6654	SOS1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:648
6654	SOS1	HP:0003115	Abnormal EKG	HP:0040281	ORPHA:648
6654	SOS1	HP:0003125	Reduced factor VIII activity	1/1	OMIM:610733
6654	SOS1	HP:0004415	Pulmonary artery stenosis	HP:0040281	ORPHA:648
6654	SOS1	HP:0000915	Pectus excavatum of inferior sternum	-	OMIM:610733
6654	SOS1	HP:0000926	Platyspondyly	1/7	OMIM:615777
6654	SOS1	HP:0003180	Flat acetabular roof	-	OMIM:615777
6654	SOS1	HP:0004482	Relative macrocephaly	-	OMIM:615777
6654	SOS1	HP:0004467	Preauricular pit	-	OMIM:187500
6654	SOS1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6654	SOS1	HP:0012804	Corneal ulceration	-	OMIM:153400
6654	SOS1	HP:0000823	Delayed puberty	-	OMIM:131300
6654	SOS1	HP:0000894	Short clavicles	-	OMIM:615777
6654	SOS1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6654	SOS1	HP:0045075	Sparse eyebrow	1/1	OMIM:610733
6654	SOS1	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:648
6654	SOS1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:648
6654	SOS1	HP:0010310	Chylothorax	1/6	OMIM:153400
6654	SOS1	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:648
6654	SOS1	HP:0000978	Bruising susceptibility	8/38	OMIM:610733
6654	SOS1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6654	SOS1	HP:0000938	Osteopenia	HP:0040283	ORPHA:648
6654	SOS1	HP:0011675	Arrhythmia	-	OMIM:153400
6654	SOS1	HP:0011675	Arrhythmia	HP:0040282	ORPHA:648
6654	SOS1	HP:0000286	Epicanthus	1/1	OMIM:610733
6654	SOS1	HP:0000286	Epicanthus	1/7	OMIM:615777
6654	SOS1	HP:0000280	Coarse facial features	2/7	OMIM:615777
6654	SOS1	HP:0000256	Macrocephaly	9/15	OMIM:610733
6654	SOS1	HP:0002827	Hip dislocation	3/7	OMIM:615777
6654	SOS1	HP:0002808	Kyphosis	2/5	OMIM:153400
6654	SOS1	HP:0000252	Microcephaly	-	OMIM:615777
6654	SOS1	HP:0012209	Juvenile myelomonocytic leukemia	HP:0040283	ORPHA:648
6654	SOS1	HP:0000218	High palate	HP:0040281	ORPHA:648
6654	SOS1	HP:0000212	Gingival overgrowth	HP:0040281	ORPHA:2024
6654	SOS1	HP:0001561	Polyhydramnios	1/1	OMIM:610733
6654	SOS1	HP:0002857	Genu valgum	-	OMIM:131300
6654	SOS1	HP:0001533	Slender build	-	OMIM:131300
6654	SOS1	HP:0000204	Cleft upper lip	-	OMIM:153400
6654	SOS1	HP:0001520	Large for gestational age	9/15	OMIM:610733
6654	SOS1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6654	SOS1	HP:0007807	Optic nerve compression	-	OMIM:131300
6654	SOS1	HP:0012368	Flat face	7/7	OMIM:615777
6654	SOS1	HP:0000391	Thickened helices	HP:0040281	ORPHA:648
6654	SOS1	HP:0000391	Thickened helices	17/17	OMIM:610733
6654	SOS1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6654	SOS1	HP:0000365	Hearing impairment	0/38	OMIM:135300
6654	SOS1	HP:0000365	Hearing impairment	10/67	OMIM:131300
6654	SOS1	HP:0000358	Posteriorly rotated ears	1/1	OMIM:610733
6654	SOS1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:648
6654	SOS1	HP:0000369	Low-set ears	17/17	OMIM:610733
6654	SOS1	HP:0000343	Long philtrum	1/7	OMIM:615777
6654	SOS1	HP:0011001	Increased bone mineral density	-	OMIM:131300
6654	SOS1	HP:0000337	Broad forehead	-	OMIM:187500
6654	SOS1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:648
6654	SOS1	HP:0000348	High forehead	HP:0040281	ORPHA:648
6654	SOS1	HP:0000347	Micrognathia	2/5	OMIM:153400
6654	SOS1	HP:0000347	Micrognathia	HP:0040281	ORPHA:648
6654	SOS1	HP:0000316	Hypertelorism	1/1	OMIM:610733
6654	SOS1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:648
6654	SOS1	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:648
6654	SOS1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
6654	SOS1	HP:0000311	Round face	2/7	OMIM:615777
6654	SOS1	HP:0001642	Pulmonic stenosis	40/55	OMIM:610733
6654	SOS1	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:648
6654	SOS1	HP:0000325	Triangular face	HP:0040281	ORPHA:648
6654	SOS1	HP:0001629	Ventricular septal defect	2/14	OMIM:610733
6654	SOS1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
6654	SOS1	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:648
6654	SOS1	HP:0002970	Genu varum	-	OMIM:615777
6654	SOS1	HP:0001639	Hypertrophic cardiomyopathy	6/54	OMIM:610733
6654	SOS1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:648
6654	SOS1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
6654	SOS1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
6654	SOS1	HP:0002967	Cubitus valgus	-	OMIM:610733
6654	SOS1	HP:0001631	Atrial septal defect	6/38	OMIM:610733
6654	SOS1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:648
6654	SOS1	HP:0000303	Mandibular prognathia	-	OMIM:131300
6654	SOS1	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:648
6654	SOS1	HP:0006610	Wide intermamillary distance	1/1	OMIM:610733
6654	SOS1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:648
6654	SOS1	HP:0005280	Depressed nasal bridge	1/1	OMIM:610733
6654	SOS1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6654	SOS1	HP:0000486	Strabismus	HP:0040282	ORPHA:648
6654	SOS1	HP:0012471	Thick vermilion border	15/17	OMIM:610733
6654	SOS1	HP:0000476	Cystic hygroma	HP:0040281	ORPHA:648
6654	SOS1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
6654	SOS1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
6654	SOS1	HP:0000494	Downslanted palpebral fissures	15/16	OMIM:610733
6654	SOS1	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:648
6654	SOS1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
6654	SOS1	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:648
6654	SOS1	HP:0000470	Short neck	15/16	OMIM:610733
6654	SOS1	HP:0000470	Short neck	1/7	OMIM:615777
6654	SOS1	HP:0000465	Webbed neck	HP:0040281	ORPHA:648
6654	SOS1	HP:0000465	Webbed neck	6/43	OMIM:153400
6654	SOS1	HP:0000465	Webbed neck	15/16	OMIM:610733
6654	SOS1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6654	SOS1	HP:0001763	Pes planus	1/7	OMIM:615777
6654	SOS1	HP:0001743	Abnormality of the spleen	HP:0040282	ORPHA:648
6654	SOS1	HP:0001840	Metatarsus adductus	-	OMIM:615777
6654	SOS1	HP:0000520	Proptosis	2/4	OMIM:131300
6654	SOS1	HP:0000520	Proptosis	-	OMIM:187500
6654	SOS1	HP:0000520	Proptosis	7/7	OMIM:615777
6654	SOS1	HP:0000520	Proptosis	HP:0040281	ORPHA:648
6654	SOS1	HP:0000509	Conjunctivitis	-	OMIM:153400
6654	SOS1	HP:0000508	Ptosis	2/39	OMIM:153400
6654	SOS1	HP:0000508	Ptosis	16/16	OMIM:610733
6654	SOS1	HP:0000508	Ptosis	HP:0040281	ORPHA:648
6654	SOS1	HP:0012569	Delayed menarche	HP:0040283	ORPHA:648
6654	SOS1	HP:0000592	Blue sclerae	2/7	OMIM:615777
6654	SOS1	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:648
6654	SOS1	HP:0001892	Abnormal bleeding	6/17	OMIM:610733
6654	SOS1	HP:0000568	Microphthalmia	1/6	OMIM:153400
6654	SOS1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6654	SOS1	HP:0012514	Lower limb pain	4/4	OMIM:131300
6654	SOS1	HP:0001873	Thrombocytopenia	2/13	OMIM:610733
6655	SOS2	HP:0001156	Brachydactyly	HP:0040283	ORPHA:648
6655	SOS2	HP:0010946	Dilatation of the renal pelvis	HP:0040283	ORPHA:648
6655	SOS2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6655	SOS2	HP:0001293	Cranial nerve compression	-	OMIM:131300
6655	SOS2	HP:0001252	Hypotonia	HP:0040282	ORPHA:648
6655	SOS2	HP:0001252	Hypotonia	2/7	OMIM:615777
6655	SOS2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:648
6655	SOS2	HP:0001249	Intellectual disability	5/7	OMIM:615777
6655	SOS2	HP:0001260	Dysarthria	HP:0040281	ORPHA:648
6655	SOS2	HP:0001263	Global developmental delay	2/5	OMIM:616559
6655	SOS2	HP:0001263	Global developmental delay	-	OMIM:615777
6655	SOS2	HP:0002515	Waddling gait	54/102	OMIM:131300
6655	SOS2	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:648
6655	SOS2	HP:0000072	Hydroureter	1/5	OMIM:616559
6655	SOS2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:648
6655	SOS2	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:648
6655	SOS2	HP:0001382	Joint hypermobility	-	OMIM:615777
6655	SOS2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6655	SOS2	HP:0000028	Cryptorchidism	1/1	OMIM:616559
6655	SOS2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:648
6655	SOS2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6655	SOS2	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:648
6655	SOS2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:648
6655	SOS2	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:648
6655	SOS2	HP:0001328	Specific learning disability	HP:0040283	ORPHA:648
6655	SOS2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6655	SOS2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:648
6655	SOS2	HP:0001324	Muscle weakness	40/96	OMIM:131300
6655	SOS2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6655	SOS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6655	SOS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616559
6655	SOS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
6655	SOS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6655	SOS2	HP:0002650	Scoliosis	HP:0040282	ORPHA:648
6655	SOS2	HP:0002650	Scoliosis	12/14	OMIM:131300
6655	SOS2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6655	SOS2	HP:0002619	Varicose veins	-	OMIM:153400
6655	SOS2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6655	SOS2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6655	SOS2	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:648
6655	SOS2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6655	SOS2	HP:0000175	Cleft palate	5/39	OMIM:153400
6655	SOS2	HP:0000175	Cleft palate	2/7	OMIM:615777
6655	SOS2	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:648
6655	SOS2	HP:0011800	Midface retrusion	HP:0040281	ORPHA:648
6655	SOS2	HP:0003388	Easy fatigability	36/76	OMIM:131300
6655	SOS2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6655	SOS2	HP:0008151	Prolonged prothrombin time	2/2	OMIM:616559
6655	SOS2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:648
6655	SOS2	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:648
6655	SOS2	HP:0011869	Abnormal platelet function	HP:0040282	ORPHA:648
6655	SOS2	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:648
6655	SOS2	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
6655	SOS2	HP:0002212	Curly hair	4/5	OMIM:616559
6655	SOS2	HP:0002208	Coarse hair	HP:0040282	ORPHA:648
6655	SOS2	HP:0010726	Prominent corneal nerve fibers	1/2	OMIM:616559
6655	SOS2	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:648
6655	SOS2	HP:0009743	Distichiasis	42/42	OMIM:153400
6655	SOS2	HP:0003510	Severe short stature	7/7	OMIM:615777
6655	SOS2	HP:0001004	Lymphedema	HP:0040283	ORPHA:648
6655	SOS2	HP:0001004	Lymphedema	-	OMIM:153400
6655	SOS2	HP:0002315	Headache	-	OMIM:131300
6655	SOS2	HP:0004976	Knee dislocation	6/7	OMIM:615777
6655	SOS2	HP:0100658	Cellulitis	2/6	OMIM:153400
6655	SOS2	HP:0100625	Enlarged thorax	HP:0040281	ORPHA:648
6655	SOS2	HP:0009803	Short phalanx of finger	-	OMIM:615777
6655	SOS2	HP:0032152	Keratosis pilaris	3/5	OMIM:616559
6655	SOS2	HP:0009763	Limb pain	63/92	OMIM:131300
6655	SOS2	HP:0003621	Juvenile onset	-	OMIM:131300
6655	SOS2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6655	SOS2	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:648
6655	SOS2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6655	SOS2	HP:0000639	Nystagmus	HP:0040283	ORPHA:648
6655	SOS2	HP:0000635	Blue irides	HP:0040282	ORPHA:648
6655	SOS2	HP:6001056	Out-toeing	-	OMIM:131300
6655	SOS2	HP:0000651	Diplopia	-	OMIM:131300
6655	SOS2	HP:0000613	Photophobia	10/49	OMIM:153400
6655	SOS2	HP:0001956	Truncal obesity	2/7	OMIM:615777
6655	SOS2	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:648
6655	SOS2	HP:0001903	Anemia	HP:0040283	OMIM:131300
6655	SOS2	HP:0010049	Short metacarpal	-	OMIM:615777
6655	SOS2	HP:0011381	Aplasia of the semicircular canal	HP:0040283	ORPHA:648
6655	SOS2	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
6655	SOS2	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:648
6655	SOS2	HP:0000678	Dental crowding	-	OMIM:615777
6655	SOS2	HP:0000656	Ectropion	2/43	OMIM:153400
6655	SOS2	HP:0000670	Carious teeth	-	OMIM:131300
6655	SOS2	HP:0011304	Broad thumb	2/7	OMIM:615777
6655	SOS2	HP:0000668	Hypodontia	-	OMIM:615777
6655	SOS2	HP:0000664	Synophrys	-	OMIM:615777
6655	SOS2	HP:0004322	Short stature	2/4	OMIM:616559
6655	SOS2	HP:0004322	Short stature	HP:0040281	ORPHA:648
6655	SOS2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:648
6655	SOS2	HP:0004396	Poor appetite	-	OMIM:131300
6655	SOS2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6655	SOS2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6655	SOS2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6655	SOS2	HP:0003011	Abnormality of the musculature	-	OMIM:153400
6655	SOS2	HP:0003026	Short long bone	7/7	OMIM:615777
6655	SOS2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6655	SOS2	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:648
6655	SOS2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6655	SOS2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6655	SOS2	HP:0000768	Pectus carinatum	HP:0040281	ORPHA:648
6655	SOS2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6655	SOS2	HP:0000750	Delayed speech and language development	-	OMIM:615777
6655	SOS2	HP:0011461	Fetal onset	7/7	OMIM:615777
6655	SOS2	HP:0000774	Narrow chest	2/7	OMIM:615777
6655	SOS2	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:648
6655	SOS2	HP:0003115	Abnormal EKG	HP:0040281	ORPHA:648
6655	SOS2	HP:0004415	Pulmonary artery stenosis	HP:0040281	ORPHA:648
6655	SOS2	HP:0000926	Platyspondyly	1/7	OMIM:615777
6655	SOS2	HP:0003180	Flat acetabular roof	-	OMIM:615777
6655	SOS2	HP:0004482	Relative macrocephaly	-	OMIM:615777
6655	SOS2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6655	SOS2	HP:0012804	Corneal ulceration	-	OMIM:153400
6655	SOS2	HP:0000823	Delayed puberty	-	OMIM:131300
6655	SOS2	HP:0000894	Short clavicles	-	OMIM:615777
6655	SOS2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6655	SOS2	HP:0045075	Sparse eyebrow	4/5	OMIM:616559
6655	SOS2	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:648
6655	SOS2	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:648
6655	SOS2	HP:0010310	Chylothorax	1/6	OMIM:153400
6655	SOS2	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:648
6655	SOS2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6655	SOS2	HP:0000938	Osteopenia	HP:0040283	ORPHA:648
6655	SOS2	HP:0011675	Arrhythmia	-	OMIM:153400
6655	SOS2	HP:0011675	Arrhythmia	HP:0040282	ORPHA:648
6655	SOS2	HP:0000286	Epicanthus	1/7	OMIM:615777
6655	SOS2	HP:0000280	Coarse facial features	2/7	OMIM:615777
6655	SOS2	HP:0002827	Hip dislocation	3/7	OMIM:615777
6655	SOS2	HP:0002808	Kyphosis	2/5	OMIM:153400
6655	SOS2	HP:0000252	Microcephaly	-	OMIM:615777
6655	SOS2	HP:0012209	Juvenile myelomonocytic leukemia	HP:0040283	ORPHA:648
6655	SOS2	HP:0000218	High palate	HP:0040281	ORPHA:648
6655	SOS2	HP:0002857	Genu valgum	-	OMIM:131300
6655	SOS2	HP:0001533	Slender build	-	OMIM:131300
6655	SOS2	HP:0000204	Cleft upper lip	-	OMIM:153400
6655	SOS2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6655	SOS2	HP:0007807	Optic nerve compression	-	OMIM:131300
6655	SOS2	HP:0012368	Flat face	7/7	OMIM:615777
6655	SOS2	HP:0000391	Thickened helices	HP:0040281	ORPHA:648
6655	SOS2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6655	SOS2	HP:0000365	Hearing impairment	10/67	OMIM:131300
6655	SOS2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:648
6655	SOS2	HP:0000343	Long philtrum	1/7	OMIM:615777
6655	SOS2	HP:0011001	Increased bone mineral density	-	OMIM:131300
6655	SOS2	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:648
6655	SOS2	HP:0001680	Coarctation of aorta	1/5	OMIM:616559
6655	SOS2	HP:0000348	High forehead	HP:0040281	ORPHA:648
6655	SOS2	HP:0000347	Micrognathia	2/5	OMIM:153400
6655	SOS2	HP:0000347	Micrognathia	HP:0040281	ORPHA:648
6655	SOS2	HP:0000316	Hypertelorism	-	OMIM:616559
6655	SOS2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:648
6655	SOS2	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:648
6655	SOS2	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
6655	SOS2	HP:0000311	Round face	2/7	OMIM:615777
6655	SOS2	HP:0001642	Pulmonic stenosis	1/5	OMIM:616559
6655	SOS2	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:648
6655	SOS2	HP:0000325	Triangular face	HP:0040281	ORPHA:648
6655	SOS2	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
6655	SOS2	HP:0001629	Ventricular septal defect	1/5	OMIM:616559
6655	SOS2	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:648
6655	SOS2	HP:0002970	Genu varum	-	OMIM:615777
6655	SOS2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:648
6655	SOS2	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
6655	SOS2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:648
6655	SOS2	HP:0000303	Mandibular prognathia	-	OMIM:131300
6655	SOS2	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:648
6655	SOS2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:648
6655	SOS2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6655	SOS2	HP:0000486	Strabismus	HP:0040282	ORPHA:648
6655	SOS2	HP:0000476	Cystic hygroma	HP:0040281	ORPHA:648
6655	SOS2	HP:0000476	Cystic hygroma	2/43	OMIM:153400
6655	SOS2	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
6655	SOS2	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:648
6655	SOS2	HP:0000494	Downslanted palpebral fissures	-	OMIM:616559
6655	SOS2	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
6655	SOS2	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:648
6655	SOS2	HP:0000470	Short neck	1/7	OMIM:615777
6655	SOS2	HP:0000470	Short neck	5/5	OMIM:616559
6655	SOS2	HP:0000465	Webbed neck	HP:0040281	ORPHA:648
6655	SOS2	HP:0000465	Webbed neck	6/43	OMIM:153400
6655	SOS2	HP:0000465	Webbed neck	5/5	OMIM:616559
6655	SOS2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6655	SOS2	HP:0001763	Pes planus	1/7	OMIM:615777
6655	SOS2	HP:0001743	Abnormality of the spleen	HP:0040282	ORPHA:648
6655	SOS2	HP:0001840	Metatarsus adductus	-	OMIM:615777
6655	SOS2	HP:0000520	Proptosis	2/4	OMIM:131300
6655	SOS2	HP:0000520	Proptosis	7/7	OMIM:615777
6655	SOS2	HP:0000520	Proptosis	HP:0040281	ORPHA:648
6655	SOS2	HP:0000509	Conjunctivitis	-	OMIM:153400
6655	SOS2	HP:0000508	Ptosis	2/39	OMIM:153400
6655	SOS2	HP:0000508	Ptosis	-	OMIM:616559
6655	SOS2	HP:0000508	Ptosis	HP:0040281	ORPHA:648
6655	SOS2	HP:0012569	Delayed menarche	HP:0040283	ORPHA:648
6655	SOS2	HP:0000592	Blue sclerae	2/7	OMIM:615777
6655	SOS2	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:648
6655	SOS2	HP:0000568	Microphthalmia	1/6	OMIM:153400
6655	SOS2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6655	SOS2	HP:0012514	Lower limb pain	4/4	OMIM:131300
6657	SOX2	HP:0002444	Hypothalamic hamartoma	-	OMIM:206900
6657	SOX2	HP:0008619	Bilateral sensorineural hearing impairment	1/1	OMIM:206900
6657	SOX2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6657	SOX2	HP:0001293	Cranial nerve compression	-	OMIM:131300
6657	SOX2	HP:0001290	Generalized hypotonia	-	OMIM:206900
6657	SOX2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:77298
6657	SOX2	HP:0001274	Agenesis of corpus callosum	-	OMIM:206900
6657	SOX2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:3157
6657	SOX2	HP:0001250	Seizure	HP:0040282	ORPHA:3157
6657	SOX2	HP:0001252	Hypotonia	-	OMIM:206900
6657	SOX2	HP:0001252	Hypotonia	2/7	OMIM:615777
6657	SOX2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3157
6657	SOX2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:77298
6657	SOX2	HP:0001249	Intellectual disability	5/7	OMIM:615777
6657	SOX2	HP:0001264	Spastic diplegia	-	OMIM:206900
6657	SOX2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:3157
6657	SOX2	HP:0001263	Global developmental delay	1/1	OMIM:206900
6657	SOX2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:77298
6657	SOX2	HP:0001263	Global developmental delay	-	OMIM:615777
6657	SOX2	HP:0002575	Tracheoesophageal fistula	HP:0040281	ORPHA:77298
6657	SOX2	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:3157
6657	SOX2	HP:0100842	Septo-optic dysplasia	HP:0040281	ORPHA:3157
6657	SOX2	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:77298
6657	SOX2	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:3157
6657	SOX2	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:3157
6657	SOX2	HP:0002515	Waddling gait	54/102	OMIM:131300
6657	SOX2	HP:0002510	Spastic tetraplegia	-	OMIM:206900
6657	SOX2	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:206900
6657	SOX2	HP:0000054	Micropenis	-	OMIM:206900
6657	SOX2	HP:0001382	Joint hypermobility	-	OMIM:615777
6657	SOX2	HP:0000047	Hypospadias	-	OMIM:206900
6657	SOX2	HP:0000047	Hypospadias	HP:0040283	ORPHA:77298
6657	SOX2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6657	SOX2	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:77298
6657	SOX2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3157
6657	SOX2	HP:0000028	Cryptorchidism	-	OMIM:206900
6657	SOX2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:77298
6657	SOX2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6657	SOX2	HP:0008897	Postnatal growth retardation	-	OMIM:206900
6657	SOX2	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:3157
6657	SOX2	HP:0001328	Specific learning disability	-	OMIM:206900
6657	SOX2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6657	SOX2	HP:0001324	Muscle weakness	40/96	OMIM:131300
6657	SOX2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6657	SOX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6657	SOX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:206900
6657	SOX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6657	SOX2	HP:0002650	Scoliosis	12/14	OMIM:131300
6657	SOX2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6657	SOX2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6657	SOX2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6657	SOX2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6657	SOX2	HP:0000175	Cleft palate	HP:0040282	ORPHA:3157
6657	SOX2	HP:0000175	Cleft palate	2/7	OMIM:615777
6657	SOX2	HP:0002019	Constipation	HP:0040283	ORPHA:3157
6657	SOX2	HP:0002032	Esophageal atresia	HP:0040281	ORPHA:77298
6657	SOX2	HP:0002032	Esophageal atresia	-	OMIM:206900
6657	SOX2	HP:0002032	Esophageal atresia	HP:0040283	ORPHA:3157
6657	SOX2	HP:0002007	Frontal bossing	-	OMIM:206900
6657	SOX2	HP:0003316	Butterfly vertebrae	-	OMIM:206900
6657	SOX2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:206900
6657	SOX2	HP:0003388	Easy fatigability	36/76	OMIM:131300
6657	SOX2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6657	SOX2	HP:0003468	Abnormal vertebral morphology	HP:0040283	ORPHA:77298
6657	SOX2	HP:0003577	Congenital onset	9/9	OMIM:206900
6657	SOX2	HP:0008417	Vertebral hypoplasia	-	OMIM:206900
6657	SOX2	HP:0010627	Anterior pituitary hypoplasia	-	OMIM:206900
6657	SOX2	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:3157
6657	SOX2	HP:0003510	Severe short stature	7/7	OMIM:615777
6657	SOX2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:3157
6657	SOX2	HP:0002315	Headache	-	OMIM:131300
6657	SOX2	HP:0004976	Knee dislocation	6/7	OMIM:615777
6657	SOX2	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:3157
6657	SOX2	HP:0009803	Short phalanx of finger	-	OMIM:615777
6657	SOX2	HP:0008499	High hypermetropia	HP:0040281	ORPHA:35612
6657	SOX2	HP:0009763	Limb pain	63/92	OMIM:131300
6657	SOX2	HP:0003621	Juvenile onset	-	OMIM:131300
6657	SOX2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6657	SOX2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6657	SOX2	HP:0000639	Nystagmus	HP:0040282	ORPHA:3157
6657	SOX2	HP:6001056	Out-toeing	-	OMIM:131300
6657	SOX2	HP:0000651	Diplopia	-	OMIM:131300
6657	SOX2	HP:0000647	Sclerocornea	HP:0040283	ORPHA:77298
6657	SOX2	HP:0000647	Sclerocornea	2/9	OMIM:206900
6657	SOX2	HP:0000612	Iris coloboma	HP:0040283	ORPHA:77298
6657	SOX2	HP:0000610	Abnormal choroid morphology	HP:0040281	ORPHA:35612
6657	SOX2	HP:0001959	Polydipsia	HP:0040283	ORPHA:3157
6657	SOX2	HP:0001956	Truncal obesity	2/7	OMIM:615777
6657	SOX2	HP:0000609	Optic nerve hypoplasia	-	OMIM:206900
6657	SOX2	HP:0000609	Optic nerve hypoplasia	HP:0040281	ORPHA:3157
6657	SOX2	HP:0001903	Anemia	HP:0040283	OMIM:131300
6657	SOX2	HP:0010049	Short metacarpal	-	OMIM:615777
6657	SOX2	HP:0000678	Dental crowding	-	OMIM:615777
6657	SOX2	HP:0000670	Carious teeth	-	OMIM:131300
6657	SOX2	HP:0011304	Broad thumb	2/7	OMIM:615777
6657	SOX2	HP:0000668	Hypodontia	-	OMIM:615777
6657	SOX2	HP:0000664	Synophrys	-	OMIM:615777
6657	SOX2	HP:0004322	Short stature	HP:0040282	ORPHA:3157
6657	SOX2	HP:0004322	Short stature	1/9	OMIM:206900
6657	SOX2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:3157
6657	SOX2	HP:0004396	Poor appetite	-	OMIM:131300
6657	SOX2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6657	SOX2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6657	SOX2	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:3157
6657	SOX2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6657	SOX2	HP:0003026	Short long bone	7/7	OMIM:615777
6657	SOX2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6657	SOX2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6657	SOX2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6657	SOX2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6657	SOX2	HP:0000750	Delayed speech and language development	-	OMIM:615777
6657	SOX2	HP:0000717	Autism	HP:0040283	ORPHA:3157
6657	SOX2	HP:0011461	Fetal onset	7/7	OMIM:615777
6657	SOX2	HP:0000774	Narrow chest	2/7	OMIM:615777
6657	SOX2	HP:0000926	Platyspondyly	1/7	OMIM:615777
6657	SOX2	HP:0000921	Missing ribs	-	OMIM:206900
6657	SOX2	HP:0003180	Flat acetabular roof	-	OMIM:615777
6657	SOX2	HP:0000902	Rib fusion	-	OMIM:206900
6657	SOX2	HP:0004482	Relative macrocephaly	-	OMIM:615777
6657	SOX2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6657	SOX2	HP:0000878	11 pairs of ribs	HP:0040283	ORPHA:77298
6657	SOX2	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:3157
6657	SOX2	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040282	ORPHA:3157
6657	SOX2	HP:0000823	Delayed puberty	-	OMIM:131300
6657	SOX2	HP:0000894	Short clavicles	-	OMIM:615777
6657	SOX2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6657	SOX2	HP:0000958	Dry skin	HP:0040283	ORPHA:3157
6657	SOX2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6657	SOX2	HP:0000966	Hypohidrosis	HP:0040283	ORPHA:3157
6657	SOX2	HP:0005815	Supernumerary ribs	-	OMIM:206900
6657	SOX2	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:35612
6657	SOX2	HP:0000286	Epicanthus	1/7	OMIM:615777
6657	SOX2	HP:0000280	Coarse facial features	2/7	OMIM:615777
6657	SOX2	HP:0002827	Hip dislocation	3/7	OMIM:615777
6657	SOX2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:77298
6657	SOX2	HP:0000252	Microcephaly	-	OMIM:206900
6657	SOX2	HP:0000252	Microcephaly	-	OMIM:615777
6657	SOX2	HP:0002857	Genu valgum	-	OMIM:131300
6657	SOX2	HP:0001533	Slender build	-	OMIM:131300
6657	SOX2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6657	SOX2	HP:0001510	Growth delay	HP:0040283	ORPHA:77298
6657	SOX2	HP:0001513	Obesity	HP:0040283	ORPHA:3157
6657	SOX2	HP:0007807	Optic nerve compression	-	OMIM:131300
6657	SOX2	HP:0012378	Fatigue	HP:0040283	ORPHA:3157
6657	SOX2	HP:0012368	Flat face	7/7	OMIM:615777
6657	SOX2	HP:0002937	Hemivertebrae	HP:0040283	ORPHA:77298
6657	SOX2	HP:0002937	Hemivertebrae	-	OMIM:206900
6657	SOX2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6657	SOX2	HP:0002948	Vertebral fusion	-	OMIM:206900
6657	SOX2	HP:0000365	Hearing impairment	10/67	OMIM:131300
6657	SOX2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:77298
6657	SOX2	HP:0000343	Long philtrum	1/7	OMIM:615777
6657	SOX2	HP:0011001	Increased bone mineral density	-	OMIM:131300
6657	SOX2	HP:0001643	Patent ductus arteriosus	-	OMIM:206900
6657	SOX2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:77298
6657	SOX2	HP:0000311	Round face	2/7	OMIM:615777
6657	SOX2	HP:0001629	Ventricular septal defect	-	OMIM:206900
6657	SOX2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:77298
6657	SOX2	HP:0002970	Genu varum	-	OMIM:615777
6657	SOX2	HP:0000303	Mandibular prognathia	-	OMIM:131300
6657	SOX2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:3157
6657	SOX2	HP:0000407	Sensorineural hearing impairment	-	OMIM:206900
6657	SOX2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6657	SOX2	HP:0000486	Strabismus	HP:0040281	ORPHA:35612
6657	SOX2	HP:0000486	Strabismus	HP:0040282	ORPHA:3157
6657	SOX2	HP:0000458	Anosmia	HP:0040283	ORPHA:3157
6657	SOX2	HP:0000470	Short neck	1/7	OMIM:615777
6657	SOX2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6657	SOX2	HP:0001763	Pes planus	1/7	OMIM:615777
6657	SOX2	HP:0000518	Cataract	1/9	OMIM:206900
6657	SOX2	HP:0001840	Metatarsus adductus	-	OMIM:615777
6657	SOX2	HP:0000528	Anophthalmia	HP:0040281	ORPHA:77298
6657	SOX2	HP:0000528	Anophthalmia	9/10	OMIM:206900
6657	SOX2	HP:0000520	Proptosis	2/4	OMIM:131300
6657	SOX2	HP:0000520	Proptosis	7/7	OMIM:615777
6657	SOX2	HP:0000505	Visual impairment	HP:0040281	ORPHA:3157
6657	SOX2	HP:0000501	Glaucoma	HP:0040281	ORPHA:35612
6657	SOX2	HP:0000592	Blue sclerae	2/7	OMIM:615777
6657	SOX2	HP:0000589	Coloboma	1/9	OMIM:206900
6657	SOX2	HP:0000572	Visual loss	HP:0040282	ORPHA:77298
6657	SOX2	HP:0000568	Microphthalmia	HP:0040281	ORPHA:35612
6657	SOX2	HP:0000568	Microphthalmia	HP:0040281	ORPHA:77298
6657	SOX2	HP:0000568	Microphthalmia	3/9	OMIM:206900
6657	SOX2	HP:0012521	Optic nerve aplasia	1/1	OMIM:206900
6657	SOX2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6657	SOX2	HP:0012514	Lower limb pain	4/4	OMIM:131300
6658	SOX3	HP:0009888	Abnormality of secondary sexual hair	HP:0040282	ORPHA:90695
6658	SOX3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6658	SOX3	HP:0001293	Cranial nerve compression	-	OMIM:131300
6658	SOX3	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:3157
6658	SOX3	HP:0001256	Intellectual disability, mild	-	OMIM:300123
6658	SOX3	HP:0001250	Seizure	HP:0040282	ORPHA:3157
6658	SOX3	HP:0001252	Hypotonia	2/7	OMIM:615777
6658	SOX3	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3157
6658	SOX3	HP:0001249	Intellectual disability	HP:0040281	ORPHA:67045
6658	SOX3	HP:0001249	Intellectual disability	5/7	OMIM:615777
6658	SOX3	HP:0001263	Global developmental delay	HP:0040283	ORPHA:3157
6658	SOX3	HP:0001263	Global developmental delay	-	OMIM:300123
6658	SOX3	HP:0001263	Global developmental delay	-	OMIM:615777
6658	SOX3	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:3157
6658	SOX3	HP:0100842	Septo-optic dysplasia	HP:0040281	ORPHA:3157
6658	SOX3	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:393
6658	SOX3	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:90695
6658	SOX3	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:3157
6658	SOX3	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:3157
6658	SOX3	HP:0002515	Waddling gait	54/102	OMIM:131300
6658	SOX3	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:393
6658	SOX3	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:90695
6658	SOX3	HP:0001382	Joint hypermobility	-	OMIM:615777
6658	SOX3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6658	SOX3	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:393
6658	SOX3	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3157
6658	SOX3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6658	SOX3	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:3157
6658	SOX3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6658	SOX3	HP:0001324	Muscle weakness	40/96	OMIM:131300
6658	SOX3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6658	SOX3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6658	SOX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6658	SOX3	HP:0002650	Scoliosis	12/14	OMIM:131300
6658	SOX3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6658	SOX3	HP:0002615	Hypotension	HP:0040282	ORPHA:90695
6658	SOX3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6658	SOX3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6658	SOX3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6658	SOX3	HP:0000175	Cleft palate	HP:0040282	ORPHA:3157
6658	SOX3	HP:0000175	Cleft palate	2/7	OMIM:615777
6658	SOX3	HP:0000141	Amenorrhea	HP:0040282	ORPHA:90695
6658	SOX3	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:393
6658	SOX3	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:90695
6658	SOX3	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:67045
6658	SOX3	HP:0001417	X-linked inheritance	-	OMIM:300123
6658	SOX3	HP:0001417	X-linked inheritance	-	OMIM:312000
6658	SOX3	HP:0002019	Constipation	HP:0040283	ORPHA:90695
6658	SOX3	HP:0002019	Constipation	HP:0040283	ORPHA:3157
6658	SOX3	HP:0002032	Esophageal atresia	HP:0040283	ORPHA:3157
6658	SOX3	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:67045
6658	SOX3	HP:0003388	Easy fatigability	36/76	OMIM:131300
6658	SOX3	HP:0011755	Ectopic posterior pituitary	HP:0040283	ORPHA:67045
6658	SOX3	HP:0011755	Ectopic posterior pituitary	HP:0040284	ORPHA:90695
6658	SOX3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6658	SOX3	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:90695
6658	SOX3	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:90695
6658	SOX3	HP:0010627	Anterior pituitary hypoplasia	HP:0040283	ORPHA:67045
6658	SOX3	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:3157
6658	SOX3	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:90695
6658	SOX3	HP:0003510	Severe short stature	7/7	OMIM:615777
6658	SOX3	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:3157
6658	SOX3	HP:0002315	Headache	-	OMIM:131300
6658	SOX3	HP:0004976	Knee dislocation	6/7	OMIM:615777
6658	SOX3	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:3157
6658	SOX3	HP:0009803	Short phalanx of finger	-	OMIM:615777
6658	SOX3	HP:0009763	Limb pain	63/92	OMIM:131300
6658	SOX3	HP:0003621	Juvenile onset	-	OMIM:131300
6658	SOX3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6658	SOX3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6658	SOX3	HP:0000639	Nystagmus	HP:0040282	ORPHA:3157
6658	SOX3	HP:6001056	Out-toeing	-	OMIM:131300
6658	SOX3	HP:0000651	Diplopia	-	OMIM:131300
6658	SOX3	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:90695
6658	SOX3	HP:0001959	Polydipsia	HP:0040283	ORPHA:3157
6658	SOX3	HP:0001956	Truncal obesity	2/7	OMIM:615777
6658	SOX3	HP:0000609	Optic nerve hypoplasia	HP:0040281	ORPHA:3157
6658	SOX3	HP:0001903	Anemia	HP:0040283	OMIM:131300
6658	SOX3	HP:0010049	Short metacarpal	-	OMIM:615777
6658	SOX3	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:67045
6658	SOX3	HP:0000678	Dental crowding	-	OMIM:615777
6658	SOX3	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:67045
6658	SOX3	HP:0000670	Carious teeth	-	OMIM:131300
6658	SOX3	HP:0011304	Broad thumb	2/7	OMIM:615777
6658	SOX3	HP:0000668	Hypodontia	-	OMIM:615777
6658	SOX3	HP:0000664	Synophrys	-	OMIM:615777
6658	SOX3	HP:0004322	Short stature	HP:0040282	ORPHA:90695
6658	SOX3	HP:0004322	Short stature	HP:0040282	ORPHA:3157
6658	SOX3	HP:0004322	Short stature	HP:0040281	ORPHA:67045
6658	SOX3	HP:0004322	Short stature	-	OMIM:300123
6658	SOX3	HP:0005625	Osteoporosis of vertebrae	HP:0040283	ORPHA:90695
6658	SOX3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:3157
6658	SOX3	HP:0004396	Poor appetite	-	OMIM:131300
6658	SOX3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6658	SOX3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6658	SOX3	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:3157
6658	SOX3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6658	SOX3	HP:0003026	Short long bone	7/7	OMIM:615777
6658	SOX3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6658	SOX3	HP:0012731	Ectopic anterior pituitary gland	HP:0040284	ORPHA:90695
6658	SOX3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6658	SOX3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6658	SOX3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6658	SOX3	HP:0000750	Delayed speech and language development	-	OMIM:615777
6658	SOX3	HP:0000717	Autism	HP:0040283	ORPHA:3157
6658	SOX3	HP:0011461	Fetal onset	7/7	OMIM:615777
6658	SOX3	HP:0000774	Narrow chest	2/7	OMIM:615777
6658	SOX3	HP:0000789	Infertility	HP:0040282	ORPHA:90695
6658	SOX3	HP:0000926	Platyspondyly	1/7	OMIM:615777
6658	SOX3	HP:0003180	Flat acetabular roof	-	OMIM:615777
6658	SOX3	HP:0004482	Relative macrocephaly	-	OMIM:615777
6658	SOX3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6658	SOX3	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:3157
6658	SOX3	HP:0000871	Panhypopituitarism	-	OMIM:312000
6658	SOX3	HP:0000871	Panhypopituitarism	-	OMIM:300123
6658	SOX3	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040282	ORPHA:3157
6658	SOX3	HP:0000839	Pituitary dwarfism	-	OMIM:312000
6658	SOX3	HP:0000839	Pituitary dwarfism	HP:0040283	ORPHA:90695
6658	SOX3	HP:0000821	Hypothyroidism	-	OMIM:300123
6658	SOX3	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:300123
6658	SOX3	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040281	ORPHA:67045
6658	SOX3	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:90695
6658	SOX3	HP:0000823	Delayed puberty	-	OMIM:131300
6658	SOX3	HP:0000823	Delayed puberty	HP:0040283	ORPHA:90695
6658	SOX3	HP:0040010	Small posterior fossa	HP:0040283	ORPHA:67045
6658	SOX3	HP:0040075	Hypopituitarism	HP:0040280	ORPHA:90695
6658	SOX3	HP:0040086	Abnormal prolactin level	HP:0040282	ORPHA:90695
6658	SOX3	HP:0000894	Short clavicles	-	OMIM:615777
6658	SOX3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6658	SOX3	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:90695
6658	SOX3	HP:0000958	Dry skin	HP:0040283	ORPHA:3157
6658	SOX3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6658	SOX3	HP:0000966	Hypohidrosis	HP:0040283	ORPHA:3157
6658	SOX3	HP:0000938	Osteopenia	HP:0040283	ORPHA:90695
6658	SOX3	HP:0000286	Epicanthus	1/7	OMIM:615777
6658	SOX3	HP:0000280	Coarse facial features	2/7	OMIM:615777
6658	SOX3	HP:0002827	Hip dislocation	3/7	OMIM:615777
6658	SOX3	HP:0000252	Microcephaly	-	OMIM:615777
6658	SOX3	HP:0002857	Genu valgum	-	OMIM:131300
6658	SOX3	HP:0001533	Slender build	-	OMIM:131300
6658	SOX3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6658	SOX3	HP:0001510	Growth delay	HP:0040282	ORPHA:90695
6658	SOX3	HP:0001513	Obesity	HP:0040283	ORPHA:3157
6658	SOX3	HP:0007807	Optic nerve compression	-	OMIM:131300
6658	SOX3	HP:0012378	Fatigue	HP:0040282	ORPHA:90695
6658	SOX3	HP:0012378	Fatigue	HP:0040283	ORPHA:3157
6658	SOX3	HP:0012368	Flat face	7/7	OMIM:615777
6658	SOX3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6658	SOX3	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:90695
6658	SOX3	HP:0000365	Hearing impairment	10/67	OMIM:131300
6658	SOX3	HP:0000343	Long philtrum	1/7	OMIM:615777
6658	SOX3	HP:0011001	Increased bone mineral density	-	OMIM:131300
6658	SOX3	HP:0000311	Round face	2/7	OMIM:615777
6658	SOX3	HP:0002970	Genu varum	-	OMIM:615777
6658	SOX3	HP:0000303	Mandibular prognathia	-	OMIM:131300
6658	SOX3	HP:0007979	Gaze-evoked horizontal nystagmus	HP:0040283	ORPHA:67045
6658	SOX3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:3157
6658	SOX3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6658	SOX3	HP:0000486	Strabismus	HP:0040282	ORPHA:3157
6658	SOX3	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:67045
6658	SOX3	HP:0000458	Anosmia	HP:0040283	ORPHA:3157
6658	SOX3	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:90695
6658	SOX3	HP:0000470	Short neck	1/7	OMIM:615777
6658	SOX3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6658	SOX3	HP:0001763	Pes planus	1/7	OMIM:615777
6658	SOX3	HP:0001840	Metatarsus adductus	-	OMIM:615777
6658	SOX3	HP:0000520	Proptosis	2/4	OMIM:131300
6658	SOX3	HP:0000520	Proptosis	7/7	OMIM:615777
6658	SOX3	HP:0000505	Visual impairment	HP:0040281	ORPHA:3157
6658	SOX3	HP:0030353	Decreased serum insulin-like growth factor 1	HP:0040281	ORPHA:67045
6658	SOX3	HP:0000592	Blue sclerae	2/7	OMIM:615777
6658	SOX3	HP:0000570	Abnormal saccadic eye movements	HP:0040283	ORPHA:67045
6658	SOX3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6658	SOX3	HP:0012514	Lower limb pain	4/4	OMIM:131300
6659	SOX4	HP:0009928	Thick nasal alae	HP:0040282	ORPHA:1465
6659	SOX4	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:1465
6659	SOX4	HP:0009879	Simplified gyral pattern	HP:0040283	ORPHA:1465
6659	SOX4	HP:0001290	Generalized hypotonia	1/4	OMIM:618506
6659	SOX4	HP:0001272	Cerebellar atrophy	1/4	OMIM:618506
6659	SOX4	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:1465
6659	SOX4	HP:0001285	Spastic tetraparesis	1/4	OMIM:618506
6659	SOX4	HP:0001250	Seizure	HP:0040282	ORPHA:1465
6659	SOX4	HP:0001249	Intellectual disability	4/4	OMIM:618506
6659	SOX4	HP:0001263	Global developmental delay	4/4	OMIM:618506
6659	SOX4	HP:0100876	Infra-orbital crease	3/4	OMIM:618506
6659	SOX4	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:1465
6659	SOX4	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1465
6659	SOX4	HP:0000047	Hypospadias	HP:0040283	ORPHA:1465
6659	SOX4	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1465
6659	SOX4	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:1465
6659	SOX4	HP:0001344	Absent speech	HP:0040283	ORPHA:1465
6659	SOX4	HP:0000006	Autosomal dominant inheritance	-	OMIM:618506
6659	SOX4	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:1465
6659	SOX4	HP:0002650	Scoliosis	HP:0040282	ORPHA:1465
6659	SOX4	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:1465
6659	SOX4	HP:0000154	Wide mouth	4/4	OMIM:618506
6659	SOX4	HP:0000154	Wide mouth	HP:0040281	ORPHA:1465
6659	SOX4	HP:0008947	Floppy infant	HP:0040282	ORPHA:1465
6659	SOX4	HP:0008936	Axial hypotonia	1/4	OMIM:618506
6659	SOX4	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:1465
6659	SOX4	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:1465
6659	SOX4	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:1465
6659	SOX4	HP:0002719	Recurrent infections	HP:0040282	ORPHA:1465
6659	SOX4	HP:0011937	Hypoplastic fifth toenail	HP:0040282	ORPHA:1465
6659	SOX4	HP:0002263	Exaggerated cupid's bow	4/4	OMIM:618506
6659	SOX4	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:1465
6659	SOX4	HP:0100790	Hernia	HP:0040283	ORPHA:1465
6659	SOX4	HP:0011968	Feeding difficulties	2/4	OMIM:618506
6659	SOX4	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:1465
6659	SOX4	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:1465
6659	SOX4	HP:0008398	Hypoplastic fifth fingernail	HP:0040282	ORPHA:1465
6659	SOX4	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:1465
6659	SOX4	HP:0001007	Hirsutism	HP:0040282	ORPHA:1465
6659	SOX4	HP:0004209	Clinodactyly of the 5th finger	4/4	OMIM:618506
6659	SOX4	HP:0000696	Delayed eruption of permanent teeth	1/4	OMIM:618506
6659	SOX4	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:1465
6659	SOX4	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:1465
6659	SOX4	HP:0031936	Delayed ability to walk	3/4	OMIM:618506
6659	SOX4	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1465
6659	SOX4	HP:0000750	Delayed speech and language development	4/4	OMIM:618506
6659	SOX4	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:1465
6659	SOX4	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1465
6659	SOX4	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1465
6659	SOX4	HP:0003196	Short nose	1/4	OMIM:618506
6659	SOX4	HP:0003196	Short nose	HP:0040282	ORPHA:1465
6659	SOX4	HP:0012810	Wide nasal base	HP:0040282	ORPHA:1465
6659	SOX4	HP:0009237	Short 5th finger	HP:0040282	ORPHA:1465
6659	SOX4	HP:0000998	Hypertrichosis	HP:0040281	ORPHA:1465
6659	SOX4	HP:0000286	Epicanthus	2/4	OMIM:618506
6659	SOX4	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1465
6659	SOX4	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:1465
6659	SOX4	HP:0000289	Broad philtrum	HP:0040282	ORPHA:1465
6659	SOX4	HP:0030084	Clinodactyly	HP:0040282	ORPHA:1465
6659	SOX4	HP:0000243	Trigonocephaly	1/4	OMIM:618506
6659	SOX4	HP:0000252	Microcephaly	HP:0040284	ORPHA:1465
6659	SOX4	HP:0000252	Microcephaly	2/4	OMIM:618506
6659	SOX4	HP:0002884	Hepatoblastoma	HP:0040284	ORPHA:1465
6659	SOX4	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:1465
6659	SOX4	HP:0002895	Papillary thyroid carcinoma	HP:0040284	ORPHA:1465
6659	SOX4	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:1465
6659	SOX4	HP:0001510	Growth delay	HP:0040282	ORPHA:1465
6659	SOX4	HP:0001601	Laryngomalacia	1/4	OMIM:618506
6659	SOX4	HP:0000365	Hearing impairment	HP:0040282	ORPHA:1465
6659	SOX4	HP:0000358	Posteriorly rotated ears	2/4	OMIM:618506
6659	SOX4	HP:0000369	Low-set ears	1/4	OMIM:618506
6659	SOX4	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1465
6659	SOX4	HP:0001629	Ventricular septal defect	1/4	OMIM:618506
6659	SOX4	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:1465
6659	SOX4	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:1465
6659	SOX4	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1465
6659	SOX4	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1465
6659	SOX4	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1465
6659	SOX4	HP:0000486	Strabismus	HP:0040282	ORPHA:1465
6659	SOX4	HP:0012471	Thick vermilion border	2/4	OMIM:618506
6659	SOX4	HP:0001792	Small nail	HP:0040281	ORPHA:1465
6659	SOX4	HP:0000463	Anteverted nares	3/4	OMIM:618506
6659	SOX4	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1465
6659	SOX4	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:1465
6659	SOX4	HP:0001838	Rocker bottom foot	1/4	OMIM:618506
6659	SOX4	HP:0000508	Ptosis	HP:0040282	ORPHA:1465
6659	SOX4	HP:0000505	Visual impairment	HP:0040282	ORPHA:1465
6659	SOX4	HP:0011231	Prominent eyelashes	HP:0040281	ORPHA:1465
6659	SOX4	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:1465
6659	SOX4	HP:0012523	Oral aversion	HP:0040283	ORPHA:1465
6659	SOX4	HP:0000545	Myopia	HP:0040283	ORPHA:1465
6660	SOX5	HP:0003764	Nevus	HP:0040281	ORPHA:626
6660	SOX5	HP:0001290	Generalized hypotonia	-	OMIM:616803
6660	SOX5	HP:0100807	Long fingers	HP:0040283	OMIM:616803
6660	SOX5	HP:0001270	Motor delay	HP:0040280	ORPHA:313892
6660	SOX5	HP:0001250	Seizure	HP:0040283	ORPHA:626
6660	SOX5	HP:0001250	Seizure	HP:0040283	ORPHA:313892
6660	SOX5	HP:0001252	Hypotonia	HP:0040282	ORPHA:313892
6660	SOX5	HP:0001249	Intellectual disability	-	OMIM:616803
6660	SOX5	HP:0001249	Intellectual disability	HP:0040280	ORPHA:313892
6660	SOX5	HP:0001263	Global developmental delay	-	OMIM:616803
6660	SOX5	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:626
6660	SOX5	HP:0012056	Cutaneous melanoma	HP:0040283	ORPHA:626
6660	SOX5	HP:0000078	Abnormality of the genital system	HP:0040283	ORPHA:313892
6660	SOX5	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:626
6660	SOX5	HP:0000006	Autosomal dominant inheritance	-	OMIM:616803
6660	SOX5	HP:0002650	Scoliosis	HP:0040283	ORPHA:313892
6660	SOX5	HP:0002650	Scoliosis	-	OMIM:616803
6660	SOX5	HP:0000189	Narrow palate	HP:0040282	ORPHA:313892
6660	SOX5	HP:0000194	Open mouth	-	OMIM:616803
6660	SOX5	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:626
6660	SOX5	HP:0002711	Exaggerated median tongue furrow	HP:0040282	ORPHA:313892
6660	SOX5	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:313892
6660	SOX5	HP:0004691	2-3 toe syndactyly	HP:0040282	ORPHA:313892
6660	SOX5	HP:0002007	Frontal bossing	HP:0040282	ORPHA:313892
6660	SOX5	HP:0002007	Frontal bossing	-	OMIM:616803
6660	SOX5	HP:0003316	Butterfly vertebrae	HP:0040283	ORPHA:313892
6660	SOX5	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:626
6660	SOX5	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:313892
6660	SOX5	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:313892
6660	SOX5	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:313892
6660	SOX5	HP:0430028	Hyperplasia of the maxilla	HP:0040281	ORPHA:313892
6660	SOX5	HP:0001058	Poor wound healing	HP:0040282	ORPHA:626
6660	SOX5	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:626
6660	SOX5	HP:0002315	Headache	HP:0040283	ORPHA:626
6660	SOX5	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:626
6660	SOX5	HP:0008428	Vertebral clefting	HP:0040283	OMIM:616803
6660	SOX5	HP:0004912	Hypophosphatemic rickets	HP:0040284	ORPHA:626
6660	SOX5	HP:0000648	Optic atrophy	HP:0040282	ORPHA:313892
6660	SOX5	HP:0000648	Optic atrophy	-	OMIM:616803
6660	SOX5	HP:0000678	Dental crowding	HP:0040282	ORPHA:313892
6660	SOX5	HP:0000678	Dental crowding	-	OMIM:616803
6660	SOX5	HP:0005659	Thoracic kyphoscoliosis	HP:0040282	ORPHA:313892
6660	SOX5	HP:0005600	Congenital giant melanocytic nevus	HP:0040281	ORPHA:626
6660	SOX5	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:313892
6660	SOX5	HP:0000768	Pectus carinatum	-	OMIM:616803
6660	SOX5	HP:0000739	Anxiety	HP:0040282	ORPHA:313892
6660	SOX5	HP:0000739	Anxiety	-	OMIM:616803
6660	SOX5	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:313892
6660	SOX5	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:313892
6660	SOX5	HP:0000750	Delayed speech and language development	-	OMIM:616803
6660	SOX5	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:313892
6660	SOX5	HP:0000708	Atypical behavior	HP:0040283	ORPHA:626
6660	SOX5	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:626
6660	SOX5	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:626
6660	SOX5	HP:0010314	Premature thelarche	HP:0040284	ORPHA:626
6660	SOX5	HP:0000989	Pruritus	HP:0040283	ORPHA:626
6660	SOX5	HP:0000958	Dry skin	HP:0040282	ORPHA:626
6660	SOX5	HP:0000970	Anhidrosis	HP:0040282	ORPHA:626
6660	SOX5	HP:0000286	Epicanthus	-	OMIM:616803
6660	SOX5	HP:0030084	Clinodactyly	-	OMIM:616803
6660	SOX5	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:626
6660	SOX5	HP:0002938	Lumbar hyperlordosis	HP:0040282	ORPHA:313892
6660	SOX5	HP:0002948	Vertebral fusion	HP:0040282	ORPHA:313892
6660	SOX5	HP:0000358	Posteriorly rotated ears	-	OMIM:616803
6660	SOX5	HP:0000369	Low-set ears	-	OMIM:616803
6660	SOX5	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:313892
6660	SOX5	HP:0000324	Facial asymmetry	-	OMIM:616803
6660	SOX5	HP:0005280	Depressed nasal bridge	-	OMIM:616803
6660	SOX5	HP:0000486	Strabismus	HP:0040282	ORPHA:313892
6660	SOX5	HP:0000486	Strabismus	-	OMIM:616803
6660	SOX5	HP:0000494	Downslanted palpebral fissures	-	OMIM:616803
6660	SOX5	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:313892
6660	SOX5	HP:0001763	Pes planus	HP:0040283	OMIM:616803
6660	SOX5	HP:0000414	Bulbous nose	-	OMIM:616803
6660	SOX5	HP:0000431	Wide nasal bridge	-	OMIM:616803
6660	SOX5	HP:0001845	Overlapping toe	HP:0040283	OMIM:616803
6660	SOX5	HP:0001847	Long hallux	HP:0040283	OMIM:616803
6660	SOX5	HP:0000577	Exotropia	HP:0040282	ORPHA:313892
6660	SOX5	HP:0000545	Myopia	HP:0040282	ORPHA:313892
6660	SOX5	HP:0000545	Myopia	-	OMIM:616803
6662	SOX9	HP:0002414	Spina bifida	1/5	OMIM:114290
6662	SOX9	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6662	SOX9	HP:0001293	Cranial nerve compression	-	OMIM:131300
6662	SOX9	HP:0001250	Seizure	1/5	OMIM:114290
6662	SOX9	HP:0001252	Hypotonia	1/5	OMIM:114290
6662	SOX9	HP:0001252	Hypotonia	2/7	OMIM:615777
6662	SOX9	HP:0001249	Intellectual disability	5/7	OMIM:615777
6662	SOX9	HP:0001263	Global developmental delay	1/5	OMIM:114290
6662	SOX9	HP:0001263	Global developmental delay	-	OMIM:615777
6662	SOX9	HP:0008726	Hypoplasia of the vagina	-	OMIM:278850
6662	SOX9	HP:0008726	Hypoplasia of the vagina	HP:0040281	ORPHA:251510
6662	SOX9	HP:0008730	Female external genitalia in individual with 46,XY karyotype	HP:0040281	ORPHA:251510
6662	SOX9	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:393
6662	SOX9	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:251510
6662	SOX9	HP:0008734	Decreased testicular size	HP:0040283	OMIM:616425
6662	SOX9	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:251510
6662	SOX9	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:2138
6662	SOX9	HP:0008715	Testicular dysgenesis	2/5	OMIM:616425
6662	SOX9	HP:0008715	Testicular dysgenesis	HP:0040281	ORPHA:242
6662	SOX9	HP:0008665	Clitoral hypertrophy	HP:0040281	ORPHA:251510
6662	SOX9	HP:0002515	Waddling gait	54/102	OMIM:131300
6662	SOX9	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:393
6662	SOX9	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:140
6662	SOX9	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:251510
6662	SOX9	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:2138
6662	SOX9	HP:0000062	Ambiguous genitalia	HP:0040283	OMIM:616425
6662	SOX9	HP:0000058	Abnormal labia morphology	HP:0040281	ORPHA:251510
6662	SOX9	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:242
6662	SOX9	HP:0000046	Small scrotum	HP:0040281	ORPHA:2138
6662	SOX9	HP:0000046	Small scrotum	1/5	OMIM:616425
6662	SOX9	HP:0000046	Small scrotum	-	OMIM:278850
6662	SOX9	HP:0000045	Abnormal scrotum morphology	HP:0040281	ORPHA:251510
6662	SOX9	HP:0000037	Male pseudohermaphroditism	HP:0040282	ORPHA:140
6662	SOX9	HP:0000037	Male pseudohermaphroditism	HP:0040281	ORPHA:242
6662	SOX9	HP:0000054	Micropenis	HP:0040281	ORPHA:251510
6662	SOX9	HP:0000054	Micropenis	-	OMIM:616425
6662	SOX9	HP:0000054	Micropenis	-	OMIM:278850
6662	SOX9	HP:0000051	Perineal hypospadias	2/5	OMIM:616425
6662	SOX9	HP:0000051	Perineal hypospadias	-	OMIM:278850
6662	SOX9	HP:0001382	Joint hypermobility	1/5	OMIM:114290
6662	SOX9	HP:0001382	Joint hypermobility	-	OMIM:615777
6662	SOX9	HP:0000048	Bifid scrotum	HP:0040281	ORPHA:2138
6662	SOX9	HP:0000048	Bifid scrotum	1/5	OMIM:616425
6662	SOX9	HP:0000048	Bifid scrotum	-	OMIM:278850
6662	SOX9	HP:0000047	Hypospadias	1/1	OMIM:114290
6662	SOX9	HP:0000047	Hypospadias	HP:0040281	ORPHA:251510
6662	SOX9	HP:0000047	Hypospadias	HP:0040281	ORPHA:2138
6662	SOX9	HP:0000047	Hypospadias	1/5	OMIM:616425
6662	SOX9	HP:0000022	Abnormal male internal genitalia morphology	HP:0040281	ORPHA:2138
6662	SOX9	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6662	SOX9	HP:0000030	Testicular gonadoblastoma	HP:0040283	ORPHA:251510
6662	SOX9	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:393
6662	SOX9	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:251510
6662	SOX9	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2138
6662	SOX9	HP:0000027	Azoospermia	3/3	OMIM:278850
6662	SOX9	HP:0000027	Azoospermia	HP:0040281	ORPHA:251510
6662	SOX9	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6662	SOX9	HP:0008873	Disproportionate short-limb short stature	-	OMIM:114290
6662	SOX9	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:718
6662	SOX9	HP:0008821	Hypoplastic inferior ilia	HP:0040281	ORPHA:140
6662	SOX9	HP:0002663	Delayed epiphyseal ossification	1/5	OMIM:114290
6662	SOX9	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6662	SOX9	HP:0001324	Muscle weakness	40/96	OMIM:131300
6662	SOX9	HP:0000013	Hypoplasia of the uterus	-	OMIM:278850
6662	SOX9	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6662	SOX9	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040281	ORPHA:2138
6662	SOX9	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6662	SOX9	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:251510
6662	SOX9	HP:0000006	Autosomal dominant inheritance	-	OMIM:616425
6662	SOX9	HP:0000006	Autosomal dominant inheritance	-	OMIM:278850
6662	SOX9	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6662	SOX9	HP:0000006	Autosomal dominant inheritance	-	OMIM:114290
6662	SOX9	HP:0002650	Scoliosis	HP:0040281	ORPHA:140
6662	SOX9	HP:0002650	Scoliosis	3/5	OMIM:114290
6662	SOX9	HP:0002650	Scoliosis	12/14	OMIM:131300
6662	SOX9	HP:0002643	Neonatal respiratory distress	3/5	OMIM:114290
6662	SOX9	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6662	SOX9	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:718
6662	SOX9	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6662	SOX9	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6662	SOX9	HP:0008921	Neonatal short-limb short stature	-	OMIM:114290
6662	SOX9	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6662	SOX9	HP:0000160	Narrow mouth	1/5	OMIM:114290
6662	SOX9	HP:0000162	Glossoptosis	HP:0040281	ORPHA:718
6662	SOX9	HP:0000176	Submucous cleft hard palate	1/5	OMIM:114290
6662	SOX9	HP:0000175	Cleft palate	HP:0040281	ORPHA:140
6662	SOX9	HP:0000175	Cleft palate	-	OMIM:114290
6662	SOX9	HP:0000175	Cleft palate	HP:0040281	ORPHA:718
6662	SOX9	HP:0000175	Cleft palate	2/7	OMIM:615777
6662	SOX9	HP:0000142	Abnormal vagina morphology	HP:0040281	ORPHA:251510
6662	SOX9	HP:0000144	Decreased fertility	HP:0040281	ORPHA:2138
6662	SOX9	HP:0000150	Gonadoblastoma	1/5	OMIM:616425
6662	SOX9	HP:0000150	Gonadoblastoma	HP:0040282	ORPHA:251510
6662	SOX9	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:393
6662	SOX9	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:2138
6662	SOX9	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:242
6662	SOX9	HP:0000149	Ovarian gonadoblastoma	HP:0040283	ORPHA:251510
6662	SOX9	HP:0002783	Recurrent lower respiratory tract infections	1/5	OMIM:114290
6662	SOX9	HP:0002780	Bronchomalacia	HP:0040283	ORPHA:718
6662	SOX9	HP:0002781	Upper airway obstruction	HP:0040282	ORPHA:718
6662	SOX9	HP:0002779	Tracheomalacia	HP:0040281	ORPHA:140
6662	SOX9	HP:0002779	Tracheomalacia	1/5	OMIM:114290
6662	SOX9	HP:0002779	Tracheomalacia	HP:0040283	ORPHA:718
6662	SOX9	HP:0002777	Tracheal stenosis	HP:0040283	ORPHA:718
6662	SOX9	HP:0000133	Gonadal dysgenesis	2/5	OMIM:616425
6662	SOX9	HP:0000133	Gonadal dysgenesis	HP:0040281	ORPHA:251510
6662	SOX9	HP:0000130	Abnormality of the uterus	HP:0040281	ORPHA:2138
6662	SOX9	HP:0002788	Recurrent upper respiratory tract infections	1/5	OMIM:114290
6662	SOX9	HP:0002786	Tracheobronchomalacia	HP:0040281	ORPHA:140
6662	SOX9	HP:0002786	Tracheobronchomalacia	-	OMIM:114290
6662	SOX9	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:140
6662	SOX9	HP:0000126	Hydronephrosis	-	OMIM:114290
6662	SOX9	HP:0032538	Pretibial dimple	3/6	OMIM:114290
6662	SOX9	HP:0000100	Nephrotic syndrome	HP:0040284	ORPHA:251510
6662	SOX9	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:140
6662	SOX9	HP:0002751	Kyphoscoliosis	3/5	OMIM:114290
6662	SOX9	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:251510
6662	SOX9	HP:0002015	Dysphagia	HP:0040283	ORPHA:718
6662	SOX9	HP:0002007	Frontal bossing	1/5	OMIM:114290
6662	SOX9	HP:0011800	Midface retrusion	1/1	OMIM:114290
6662	SOX9	HP:0002098	Respiratory distress	-	OMIM:114290
6662	SOX9	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:140
6662	SOX9	HP:0003388	Easy fatigability	36/76	OMIM:131300
6662	SOX9	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6662	SOX9	HP:0008193	Primary gonadal insufficiency	HP:0040283	ORPHA:251510
6662	SOX9	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:251510
6662	SOX9	HP:0010464	Streak ovary	HP:0040281	ORPHA:251510
6662	SOX9	HP:0010459	True hermaphroditism	HP:0040281	ORPHA:2138
6662	SOX9	HP:0010459	True hermaphroditism	-	OMIM:278850
6662	SOX9	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:140
6662	SOX9	HP:0002104	Apnea	3/5	OMIM:114290
6662	SOX9	HP:0011910	Shortening of all phalanges of fingers	-	OMIM:114290
6662	SOX9	HP:0008232	Elevated circulating follicle stimulating hormone level	2/2	OMIM:278850
6662	SOX9	HP:0008232	Elevated circulating follicle stimulating hormone level	HP:0040281	ORPHA:251510
6662	SOX9	HP:0010535	Sleep apnea	HP:0040283	ORPHA:718
6662	SOX9	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:251510
6662	SOX9	HP:0011842	Abnormal skeletal morphology	0/2	OMIM:278850
6662	SOX9	HP:0003577	Congenital onset	5/5	OMIM:114290
6662	SOX9	HP:0002215	Sparse axillary hair	HP:0040281	ORPHA:251510
6662	SOX9	HP:0004890	Elevated pulmonary artery pressure	HP:0040283	ORPHA:718
6662	SOX9	HP:0002225	Sparse pubic hair	HP:0040281	ORPHA:251510
6662	SOX9	HP:0100779	Urogenital sinus anomaly	HP:0040281	ORPHA:2138
6662	SOX9	HP:0100779	Urogenital sinus anomaly	HP:0040281	ORPHA:251510
6662	SOX9	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	1/5	OMIM:114290
6662	SOX9	HP:0007036	Hypoplasia of olfactory tract	HP:0040283	ORPHA:140
6662	SOX9	HP:0010646	Cervical spine instability	1/1	OMIM:114290
6662	SOX9	HP:0011968	Feeding difficulties	1/5	OMIM:114290
6662	SOX9	HP:0011969	Elevated circulating luteinizing hormone level	2/2	OMIM:278850
6662	SOX9	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040281	ORPHA:251510
6662	SOX9	HP:0011961	Non-obstructive azoospermia	2/2	OMIM:278850
6662	SOX9	HP:0003510	Severe short stature	7/7	OMIM:615777
6662	SOX9	HP:0002315	Headache	-	OMIM:131300
6662	SOX9	HP:0004976	Knee dislocation	6/7	OMIM:615777
6662	SOX9	HP:0100621	Dysgerminoma	-	OMIM:616425
6662	SOX9	HP:0009803	Short phalanx of finger	1/5	OMIM:114290
6662	SOX9	HP:0009803	Short phalanx of finger	-	OMIM:615777
6662	SOX9	HP:0008477	Poorly ossified cervical vertebrae	HP:0040281	ORPHA:140
6662	SOX9	HP:0008477	Poorly ossified cervical vertebrae	-	OMIM:114290
6662	SOX9	HP:0010781	Skin dimple	HP:0040282	ORPHA:140
6662	SOX9	HP:0009763	Limb pain	63/92	OMIM:131300
6662	SOX9	HP:0008434	Hypoplastic cervical vertebrae	-	OMIM:114290
6662	SOX9	HP:0003621	Juvenile onset	-	OMIM:131300
6662	SOX9	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6662	SOX9	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6662	SOX9	HP:6001056	Out-toeing	-	OMIM:131300
6662	SOX9	HP:0000651	Diplopia	-	OMIM:131300
6662	SOX9	HP:0001956	Truncal obesity	2/7	OMIM:615777
6662	SOX9	HP:0001903	Anemia	HP:0040283	OMIM:131300
6662	SOX9	HP:0010049	Short metacarpal	-	OMIM:615777
6662	SOX9	HP:0010034	Short 1st metacarpal	2/5	OMIM:114290
6662	SOX9	HP:0011343	Moderate global developmental delay	1/5	OMIM:114290
6662	SOX9	HP:0011342	Mild global developmental delay	1/5	OMIM:114290
6662	SOX9	HP:0000678	Dental crowding	-	OMIM:615777
6662	SOX9	HP:0000670	Carious teeth	1/5	OMIM:114290
6662	SOX9	HP:0000670	Carious teeth	-	OMIM:131300
6662	SOX9	HP:0011304	Broad thumb	2/7	OMIM:615777
6662	SOX9	HP:0000668	Hypodontia	-	OMIM:615777
6662	SOX9	HP:0000664	Synophrys	-	OMIM:615777
6662	SOX9	HP:0004322	Short stature	HP:0040282	ORPHA:140
6662	SOX9	HP:0030674	Antenatal onset	1/1	OMIM:114290
6662	SOX9	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:140
6662	SOX9	HP:0030680	Abnormal cardiovascular system morphology	HP:0040284	ORPHA:251510
6662	SOX9	HP:0003083	Dislocated radial head	2/5	OMIM:114290
6662	SOX9	HP:0004396	Poor appetite	-	OMIM:131300
6662	SOX9	HP:0003065	Patellar hypoplasia	3/5	OMIM:114290
6662	SOX9	HP:0003038	Fibular hypoplasia	HP:0040281	ORPHA:140
6662	SOX9	HP:0003038	Fibular hypoplasia	1/5	OMIM:114290
6662	SOX9	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6662	SOX9	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6662	SOX9	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6662	SOX9	HP:0003026	Short long bone	HP:0040281	ORPHA:140
6662	SOX9	HP:0003026	Short long bone	2/5	OMIM:114290
6662	SOX9	HP:0003026	Short long bone	7/7	OMIM:615777
6662	SOX9	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6662	SOX9	HP:0012745	Short palpebral fissure	-	OMIM:114290
6662	SOX9	HP:0000771	Gynecomastia	HP:0040281	ORPHA:251510
6662	SOX9	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6662	SOX9	HP:0000768	Pectus carinatum	1/5	OMIM:114290
6662	SOX9	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6662	SOX9	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6662	SOX9	HP:0000750	Delayed speech and language development	-	OMIM:615777
6662	SOX9	HP:0011462	Young adult onset	2/2	OMIM:278850
6662	SOX9	HP:0011461	Fetal onset	7/7	OMIM:615777
6662	SOX9	HP:0000774	Narrow chest	HP:0040281	ORPHA:140
6662	SOX9	HP:0000774	Narrow chest	2/7	OMIM:615777
6662	SOX9	HP:0000789	Infertility	5/5	OMIM:278850
6662	SOX9	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:251510
6662	SOX9	HP:0004408	Abnormality of the sense of smell	HP:0040283	ORPHA:140
6662	SOX9	HP:0000926	Platyspondyly	1/7	OMIM:615777
6662	SOX9	HP:0003180	Flat acetabular roof	-	OMIM:615777
6662	SOX9	HP:0004482	Relative macrocephaly	3/5	OMIM:114290
6662	SOX9	HP:0004482	Relative macrocephaly	-	OMIM:615777
6662	SOX9	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6662	SOX9	HP:0000882	Hypoplastic scapulae	3/5	OMIM:114290
6662	SOX9	HP:0012870	Vanishing testis	HP:0040281	ORPHA:251510
6662	SOX9	HP:0000878	11 pairs of ribs	HP:0040281	ORPHA:140
6662	SOX9	HP:0000878	11 pairs of ribs	1/5	OMIM:114290
6662	SOX9	HP:0012856	Abnormal scrotal rugation	HP:0040281	ORPHA:2138
6662	SOX9	HP:0012861	Ovotestis	4/5	OMIM:616425
6662	SOX9	HP:0012861	Ovotestis	HP:0040283	OMIM:278850
6662	SOX9	HP:0000883	Thin ribs	-	OMIM:114290
6662	SOX9	HP:0000868	Decreased fertility in females	HP:0040281	ORPHA:251510
6662	SOX9	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:251510
6662	SOX9	HP:0000846	Adrenal insufficiency	HP:0040283	ORPHA:251510
6662	SOX9	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:251510
6662	SOX9	HP:0000812	Abnormal internal genitalia	HP:0040281	ORPHA:251510
6662	SOX9	HP:0000823	Delayed puberty	-	OMIM:131300
6662	SOX9	HP:0000823	Delayed puberty	HP:0040282	ORPHA:251510
6662	SOX9	HP:0040079	Irregular dentition	1/5	OMIM:114290
6662	SOX9	HP:0000894	Short clavicles	-	OMIM:615777
6662	SOX9	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6662	SOX9	HP:0003251	Male infertility	HP:0040281	ORPHA:251510
6662	SOX9	HP:0010307	Stridor	HP:0040283	ORPHA:718
6662	SOX9	HP:0010307	Stridor	2/5	OMIM:114290
6662	SOX9	HP:0010301	Spinal dysraphism	1/5	OMIM:114290
6662	SOX9	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6662	SOX9	HP:0000961	Cyanosis	HP:0040283	ORPHA:718
6662	SOX9	HP:0000939	Osteoporosis	HP:0040281	ORPHA:251510
6662	SOX9	HP:0040171	Decreased serum testosterone concentration	2/2	OMIM:278850
6662	SOX9	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:251510
6662	SOX9	HP:0000286	Epicanthus	1/5	OMIM:114290
6662	SOX9	HP:0000286	Epicanthus	1/7	OMIM:615777
6662	SOX9	HP:0000280	Coarse facial features	2/7	OMIM:615777
6662	SOX9	HP:0000260	Wide anterior fontanel	-	OMIM:114290
6662	SOX9	HP:0000256	Macrocephaly	HP:0040281	ORPHA:140
6662	SOX9	HP:0000256	Macrocephaly	2/5	OMIM:114290
6662	SOX9	HP:0000274	Small face	-	OMIM:114290
6662	SOX9	HP:0012244	Abnormal sex determination	HP:0040281	ORPHA:251510
6662	SOX9	HP:0012245	Sex reversal	5/5	OMIM:616425
6662	SOX9	HP:0012245	Sex reversal	3/3	OMIM:278850
6662	SOX9	HP:0012245	Sex reversal	1/5	OMIM:114290
6662	SOX9	HP:0002827	Hip dislocation	HP:0040281	ORPHA:140
6662	SOX9	HP:0002827	Hip dislocation	1/5	OMIM:114290
6662	SOX9	HP:0002827	Hip dislocation	3/7	OMIM:615777
6662	SOX9	HP:0002808	Kyphosis	HP:0040283	ORPHA:140
6662	SOX9	HP:0006390	Anterior tibial bowing	1/5	OMIM:114290
6662	SOX9	HP:0005035	Shortening of all phalanges of the toes	-	OMIM:114290
6662	SOX9	HP:0000238	Hydrocephalus	-	OMIM:114290
6662	SOX9	HP:0000252	Microcephaly	-	OMIM:615777
6662	SOX9	HP:0000218	High palate	1/5	OMIM:114290
6662	SOX9	HP:0001561	Polyhydramnios	-	OMIM:114290
6662	SOX9	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:718
6662	SOX9	HP:0002857	Genu valgum	-	OMIM:131300
6662	SOX9	HP:0002868	Narrow iliac wing	1/5	OMIM:114290
6662	SOX9	HP:0001533	Slender build	-	OMIM:131300
6662	SOX9	HP:0002866	Hypoplastic iliac wing	-	OMIM:114290
6662	SOX9	HP:0001508	Failure to thrive	-	OMIM:114290
6662	SOX9	HP:0001508	Failure to thrive	HP:0040282	ORPHA:718
6662	SOX9	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6662	SOX9	HP:0007807	Optic nerve compression	-	OMIM:131300
6662	SOX9	HP:0012368	Flat face	HP:0040281	ORPHA:140
6662	SOX9	HP:0012368	Flat face	1/5	OMIM:114290
6662	SOX9	HP:0012368	Flat face	7/7	OMIM:615777
6662	SOX9	HP:0005257	Thoracic hypoplasia	-	OMIM:114290
6662	SOX9	HP:0006584	Small abnormally formed scapulae	HP:0040281	ORPHA:140
6662	SOX9	HP:0001607	Subglottic stenosis	HP:0040283	ORPHA:718
6662	SOX9	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6662	SOX9	HP:0001601	Laryngomalacia	HP:0040281	ORPHA:140
6662	SOX9	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:718
6662	SOX9	HP:0002947	Cervical kyphosis	1/1	OMIM:114290
6662	SOX9	HP:0002943	Thoracic scoliosis	1/5	OMIM:114290
6662	SOX9	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:140
6662	SOX9	HP:0006487	Bowing of the long bones	3/5	OMIM:114290
6662	SOX9	HP:0000365	Hearing impairment	HP:0040283	ORPHA:140
6662	SOX9	HP:0000365	Hearing impairment	-	OMIM:114290
6662	SOX9	HP:0000365	Hearing impairment	10/67	OMIM:131300
6662	SOX9	HP:0000369	Low-set ears	HP:0040282	ORPHA:140
6662	SOX9	HP:0000369	Low-set ears	4/6	OMIM:114290
6662	SOX9	HP:0000343	Long philtrum	1/5	OMIM:114290
6662	SOX9	HP:0000343	Long philtrum	1/7	OMIM:615777
6662	SOX9	HP:0011001	Increased bone mineral density	-	OMIM:131300
6662	SOX9	HP:0000348	High forehead	-	OMIM:114290
6662	SOX9	HP:0000347	Micrognathia	HP:0040281	ORPHA:140
6662	SOX9	HP:0000347	Micrognathia	5/5	OMIM:114290
6662	SOX9	HP:0000347	Micrognathia	HP:0040281	ORPHA:718
6662	SOX9	HP:0002982	Tibial bowing	HP:0040281	ORPHA:140
6662	SOX9	HP:0002982	Tibial bowing	1/5	OMIM:114290
6662	SOX9	HP:0002980	Femoral bowing	HP:0040282	ORPHA:140
6662	SOX9	HP:0002980	Femoral bowing	-	OMIM:114290
6662	SOX9	HP:0000316	Hypertelorism	HP:0040282	ORPHA:140
6662	SOX9	HP:0000316	Hypertelorism	4/5	OMIM:114290
6662	SOX9	HP:0001648	Cor pulmonale	HP:0040283	ORPHA:718
6662	SOX9	HP:0000311	Round face	2/7	OMIM:615777
6662	SOX9	HP:0001627	Abnormal heart morphology	-	OMIM:114290
6662	SOX9	HP:0002970	Genu varum	-	OMIM:615777
6662	SOX9	HP:0000303	Mandibular prognathia	-	OMIM:131300
6662	SOX9	HP:0006628	Absent sternal ossification	-	OMIM:114290
6662	SOX9	HP:0000405	Conductive hearing impairment	3/5	OMIM:114290
6662	SOX9	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:140
6662	SOX9	HP:0005280	Depressed nasal bridge	5/5	OMIM:114290
6662	SOX9	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6662	SOX9	HP:0000457	Depressed nasal ridge	-	OMIM:114290
6662	SOX9	HP:0000470	Short neck	HP:0040281	ORPHA:140
6662	SOX9	HP:0000470	Short neck	1/7	OMIM:615777
6662	SOX9	HP:0001799	Short nail	1/5	OMIM:114290
6662	SOX9	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6662	SOX9	HP:0001763	Pes planus	1/5	OMIM:114290
6662	SOX9	HP:0001763	Pes planus	1/7	OMIM:615777
6662	SOX9	HP:0000453	Choanal atresia	HP:0040283	ORPHA:718
6662	SOX9	HP:0012418	Hypoxemia	HP:0040282	ORPHA:718
6662	SOX9	HP:0001776	Bilateral talipes equinovarus	3/6	OMIM:114290
6662	SOX9	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:140
6662	SOX9	HP:0001762	Talipes equinovarus	-	OMIM:114290
6662	SOX9	HP:0001840	Metatarsus adductus	1/5	OMIM:114290
6662	SOX9	HP:0001840	Metatarsus adductus	-	OMIM:615777
6662	SOX9	HP:0000520	Proptosis	HP:0040282	ORPHA:140
6662	SOX9	HP:0000520	Proptosis	2/4	OMIM:131300
6662	SOX9	HP:0000520	Proptosis	7/7	OMIM:615777
6662	SOX9	HP:0001822	Hallux valgus	1/5	OMIM:114290
6662	SOX9	HP:0000581	Blepharophimosis	-	OMIM:114290
6662	SOX9	HP:0000592	Blue sclerae	2/7	OMIM:615777
6662	SOX9	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6662	SOX9	HP:0012514	Lower limb pain	4/4	OMIM:131300
6662	SOX9	HP:0000545	Myopia	1/5	OMIM:114290
6663	SOX10	HP:0002460	Distal muscle weakness	-	OMIM:609136
6663	SOX10	HP:0001107	Ocular albinism	1/1	OMIM:611584
6663	SOX10	HP:0001103	Abnormal macular morphology	HP:0040281	ORPHA:897
6663	SOX10	HP:0007266	Cerebral dysmyelination	-	OMIM:609136
6663	SOX10	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:163746
6663	SOX10	HP:0001100	Heterochromia iridis	HP:0040282	ORPHA:895
6663	SOX10	HP:0001100	Heterochromia iridis	HP:0040281	ORPHA:163746
6663	SOX10	HP:0001100	Heterochromia iridis	-	OMIM:613266
6663	SOX10	HP:0001100	Heterochromia iridis	-	OMIM:611584
6663	SOX10	HP:0001100	Heterochromia iridis	1/3	OMIM:609136
6663	SOX10	HP:0001276	Hypertonia	-	OMIM:611584
6663	SOX10	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
6663	SOX10	HP:0001284	Areflexia	-	OMIM:609136
6663	SOX10	HP:0001250	Seizure	HP:0040281	ORPHA:163746
6663	SOX10	HP:0001250	Seizure	1/3	OMIM:609136
6663	SOX10	HP:0001250	Seizure	HP:0040283	ORPHA:478
6663	SOX10	HP:0001252	Hypotonia	HP:0040281	ORPHA:163746
6663	SOX10	HP:0001252	Hypotonia	1/3	OMIM:609136
6663	SOX10	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
6663	SOX10	HP:0001251	Ataxia	4/5	OMIM:609136
6663	SOX10	HP:0001251	Ataxia	HP:0040281	ORPHA:163746
6663	SOX10	HP:0001251	Ataxia	HP:0040283	ORPHA:478
6663	SOX10	HP:0001249	Intellectual disability	HP:0040281	ORPHA:163746
6663	SOX10	HP:0001249	Intellectual disability	-	OMIM:611584
6663	SOX10	HP:0001249	Intellectual disability	1/1	OMIM:609136
6663	SOX10	HP:0001265	Hyporeflexia	-	OMIM:609136
6663	SOX10	HP:0002595	Ileus	HP:0040281	ORPHA:163746
6663	SOX10	HP:0002595	Ileus	1/3	OMIM:609136
6663	SOX10	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
6663	SOX10	HP:0001263	Global developmental delay	HP:0040281	ORPHA:163746
6663	SOX10	HP:0001263	Global developmental delay	-	OMIM:611584
6663	SOX10	HP:0001263	Global developmental delay	1/1	OMIM:609136
6663	SOX10	HP:0001257	Spasticity	2/3	OMIM:609136
6663	SOX10	HP:0001257	Spasticity	HP:0040281	ORPHA:163746
6663	SOX10	HP:0001259	Coma	1/3	OMIM:609136
6663	SOX10	HP:0008734	Decreased testicular size	1/1	OMIM:146110
6663	SOX10	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
6663	SOX10	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
6663	SOX10	HP:0002510	Spastic tetraplegia	-	OMIM:609136
6663	SOX10	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:895
6663	SOX10	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
6663	SOX10	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
6663	SOX10	HP:0000054	Micropenis	1/1	OMIM:146110
6663	SOX10	HP:0000054	Micropenis	HP:0040281	ORPHA:478
6663	SOX10	HP:0000028	Cryptorchidism	2/2	OMIM:609136
6663	SOX10	HP:0000028	Cryptorchidism	-	OMIM:613266
6663	SOX10	HP:0000028	Cryptorchidism	-	OMIM:146110
6663	SOX10	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
6663	SOX10	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
6663	SOX10	HP:0001341	Olfactory lobe agenesis	HP:0040282	ORPHA:897
6663	SOX10	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
6663	SOX10	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
6663	SOX10	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
6663	SOX10	HP:0001337	Tremor	HP:0040283	ORPHA:478
6663	SOX10	HP:0001337	Tremor	HP:0040283	ORPHA:163746
6663	SOX10	HP:0000006	Autosomal dominant inheritance	-	OMIM:611584
6663	SOX10	HP:0000006	Autosomal dominant inheritance	-	OMIM:609136
6663	SOX10	HP:0000006	Autosomal dominant inheritance	-	OMIM:613266
6663	SOX10	HP:0001336	Myoclonus	1/3	OMIM:609136
6663	SOX10	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
6663	SOX10	HP:0001319	Neonatal hypotonia	-	OMIM:609136
6663	SOX10	HP:0002617	Vascular dilatation	-	OMIM:611584
6663	SOX10	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
6663	SOX10	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
6663	SOX10	HP:0000135	Hypogonadism	HP:0040282	ORPHA:163746
6663	SOX10	HP:0000135	Hypogonadism	-	OMIM:613266
6663	SOX10	HP:0007676	Hypoplasia of the iris	-	OMIM:611584
6663	SOX10	HP:0008936	Axial hypotonia	-	OMIM:611584
6663	SOX10	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
6663	SOX10	HP:0001433	Hepatosplenomegaly	1/3	OMIM:609136
6663	SOX10	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
6663	SOX10	HP:0001409	Portal hypertension	1/3	OMIM:609136
6663	SOX10	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
6663	SOX10	HP:0002019	Constipation	HP:0040281	ORPHA:897
6663	SOX10	HP:0002019	Constipation	HP:0040281	ORPHA:163746
6663	SOX10	HP:0002027	Abdominal pain	HP:0040282	ORPHA:897
6663	SOX10	HP:0002027	Abdominal pain	HP:0040281	ORPHA:163746
6663	SOX10	HP:0002059	Cerebral atrophy	1/3	OMIM:609136
6663	SOX10	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
6663	SOX10	HP:0003577	Congenital onset	1/1	OMIM:611584
6663	SOX10	HP:0002242	Abnormal intestine morphology	HP:0040281	ORPHA:897
6663	SOX10	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:163746
6663	SOX10	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:897
6663	SOX10	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:163746
6663	SOX10	HP:0002251	Aganglionic megacolon	-	OMIM:613266
6663	SOX10	HP:0002251	Aganglionic megacolon	2/3	OMIM:609136
6663	SOX10	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:895
6663	SOX10	HP:0002216	Premature graying of hair	-	OMIM:613266
6663	SOX10	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:897
6663	SOX10	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:895
6663	SOX10	HP:0002216	Premature graying of hair	HP:0040282	ORPHA:163746
6663	SOX10	HP:0002216	Premature graying of hair	-	OMIM:611584
6663	SOX10	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
6663	SOX10	HP:0002227	White eyelashes	-	OMIM:613266
6663	SOX10	HP:0002227	White eyelashes	-	OMIM:611584
6663	SOX10	HP:0002227	White eyelashes	-	OMIM:609136
6663	SOX10	HP:0002227	White eyelashes	HP:0040281	ORPHA:897
6663	SOX10	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
6663	SOX10	HP:0002226	White eyebrow	-	OMIM:613266
6663	SOX10	HP:0002226	White eyebrow	-	OMIM:611584
6663	SOX10	HP:0002226	White eyebrow	-	OMIM:609136
6663	SOX10	HP:0002226	White eyebrow	HP:0040281	ORPHA:897
6663	SOX10	HP:0002211	White forelock	HP:0040282	ORPHA:895
6663	SOX10	HP:0002211	White forelock	HP:0040282	ORPHA:163746
6663	SOX10	HP:0002211	White forelock	-	OMIM:613266
6663	SOX10	HP:0002211	White forelock	1/1	OMIM:611584
6663	SOX10	HP:0002211	White forelock	1/3	OMIM:609136
6663	SOX10	HP:0002211	White forelock	HP:0040281	ORPHA:897
6663	SOX10	HP:0001053	Hypopigmented skin patches	-	OMIM:613266
6663	SOX10	HP:0001053	Hypopigmented skin patches	-	OMIM:609136
6663	SOX10	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:895
6663	SOX10	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:163746
6663	SOX10	HP:0001053	Hypopigmented skin patches	-	OMIM:611584
6663	SOX10	HP:0003693	Distal amyotrophy	-	OMIM:609136
6663	SOX10	HP:0002313	Spastic paraparesis	-	OMIM:609136
6663	SOX10	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:163746
6663	SOX10	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
6663	SOX10	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
6663	SOX10	HP:0007108	Demyelinating peripheral neuropathy	-	OMIM:609136
6663	SOX10	HP:0003623	Neonatal onset	2/3	OMIM:609136
6663	SOX10	HP:0003621	Juvenile onset	2/2	OMIM:146110
6663	SOX10	HP:0007182	Peripheral hypomyelination	-	OMIM:609136
6663	SOX10	HP:0006808	Cerebral hypomyelination	-	OMIM:611584
6663	SOX10	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:897
6663	SOX10	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:895
6663	SOX10	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:163746
6663	SOX10	HP:0000639	Nystagmus	2/2	OMIM:609136
6663	SOX10	HP:0000639	Nystagmus	HP:0040281	ORPHA:163746
6663	SOX10	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
6663	SOX10	HP:0000639	Nystagmus	-	OMIM:611584
6663	SOX10	HP:0000635	Blue irides	HP:0040282	ORPHA:163746
6663	SOX10	HP:0000635	Blue irides	-	OMIM:613266
6663	SOX10	HP:0000635	Blue irides	1/1	OMIM:611584
6663	SOX10	HP:0000633	Decreased lacrimation	HP:0040282	ORPHA:163746
6663	SOX10	HP:0000633	Decreased lacrimation	2/3	OMIM:609136
6663	SOX10	HP:0011379	Dilated vestibule of the inner ear	-	OMIM:611584
6663	SOX10	HP:0011382	Hypoplasia of the semicircular canal	-	OMIM:611584
6663	SOX10	HP:0011382	Hypoplasia of the semicircular canal	-	OMIM:609136
6663	SOX10	HP:0011381	Aplasia of the semicircular canal	-	OMIM:611584
6663	SOX10	HP:0011376	Abnormal morphology of the vestibule of the inner ear	-	OMIM:611584
6663	SOX10	HP:0000664	Synophrys	HP:0040282	ORPHA:897
6663	SOX10	HP:0000664	Synophrys	HP:0040282	ORPHA:163746
6663	SOX10	HP:0004336	Myelin outfoldings	-	OMIM:609136
6663	SOX10	HP:0006978	Dysmyelinating leukodystrophy	HP:0040282	ORPHA:163746
6663	SOX10	HP:0006978	Dysmyelinating leukodystrophy	-	OMIM:609136
6663	SOX10	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
6663	SOX10	HP:0004388	Microcolon	HP:0040282	ORPHA:163746
6663	SOX10	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
6663	SOX10	HP:0000771	Gynecomastia	0/1	OMIM:146110
6663	SOX10	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
6663	SOX10	HP:0000767	Pectus excavatum	-	OMIM:611584
6663	SOX10	HP:0000762	Decreased nerve conduction velocity	-	OMIM:609136
6663	SOX10	HP:0011461	Fetal onset	1/3	OMIM:609136
6663	SOX10	HP:0000789	Infertility	HP:0040283	OMIM:146110
6663	SOX10	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
6663	SOX10	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
6663	SOX10	HP:0004414	Abnormality of the pulmonary artery	HP:0040283	ORPHA:895
6663	SOX10	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
6663	SOX10	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
6663	SOX10	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
6663	SOX10	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
6663	SOX10	HP:0004463	Absent brainstem auditory responses	-	OMIM:609136
6663	SOX10	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
6663	SOX10	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
6663	SOX10	HP:0000957	Cafe-au-lait spot	-	OMIM:611584
6663	SOX10	HP:0000966	Hypohidrosis	HP:0040283	ORPHA:163746
6663	SOX10	HP:0000966	Hypohidrosis	1/2	OMIM:609136
6663	SOX10	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
6663	SOX10	HP:0011675	Arrhythmia	HP:0040283	ORPHA:163746
6663	SOX10	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:897
6663	SOX10	HP:0007730	Iris hypopigmentation	1/1	OMIM:611584
6663	SOX10	HP:0007732	Lacrimal gland hypoplasia	HP:0040283	OMIM:613266
6663	SOX10	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:163746
6663	SOX10	HP:0002804	Arthrogryposis multiplex congenita	1/3	OMIM:609136
6663	SOX10	HP:0001558	Decreased fetal movement	1/3	OMIM:609136
6663	SOX10	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
6663	SOX10	HP:0001510	Growth delay	2/3	OMIM:609136
6663	SOX10	HP:0001513	Obesity	HP:0040283	ORPHA:478
6663	SOX10	HP:0011096	Peripheral demyelination	-	OMIM:609136
6663	SOX10	HP:0007894	Hypopigmentation of the fundus	1/1	OMIM:611584
6663	SOX10	HP:0005214	Intestinal obstruction	HP:0040281	ORPHA:897
6663	SOX10	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
6663	SOX10	HP:0002936	Distal sensory impairment	-	OMIM:609136
6663	SOX10	HP:0000365	Hearing impairment	1/3	OMIM:609136
6663	SOX10	HP:0000365	Hearing impairment	HP:0040281	ORPHA:897
6663	SOX10	HP:0000365	Hearing impairment	HP:0040281	ORPHA:895
6663	SOX10	HP:0000366	Abnormality of the nose	HP:0040282	ORPHA:897
6663	SOX10	HP:0012332	Abnormal autonomic nervous system physiology	-	OMIM:609136
6663	SOX10	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:163746
6663	SOX10	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:609136
6663	SOX10	HP:0000407	Sensorineural hearing impairment	-	OMIM:613266
6663	SOX10	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
6663	SOX10	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:895
6663	SOX10	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:611584
6663	SOX10	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:897
6663	SOX10	HP:0000458	Anosmia	HP:0040283	OMIM:613266
6663	SOX10	HP:0000458	Anosmia	-	OMIM:609136
6663	SOX10	HP:0000458	Anosmia	HP:0040283	OMIM:611584
6663	SOX10	HP:0000458	Anosmia	HP:0040281	ORPHA:478
6663	SOX10	HP:0000473	Torticollis	1/3	OMIM:609136
6663	SOX10	HP:0001763	Pes planus	HP:0040283	ORPHA:478
6663	SOX10	HP:0001744	Splenomegaly	HP:0040283	ORPHA:163746
6663	SOX10	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:897
6663	SOX10	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:163746
6663	SOX10	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:897
6663	SOX10	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:163746
6663	SOX10	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
6663	SOX10	HP:0001761	Pes cavus	-	OMIM:609136
6663	SOX10	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:897
6663	SOX10	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:163746
6663	SOX10	HP:0011284	Short-segment aganglionic megacolon	1/3	OMIM:609136
6663	SOX10	HP:0011285	Long-segment aganglionic megacolon	-	OMIM:609136
6663	SOX10	HP:0000522	Alacrima	2/2	OMIM:609136
6663	SOX10	HP:0000506	Telecanthus	HP:0040283	ORPHA:897
6663	SOX10	HP:0000506	Telecanthus	HP:0040281	ORPHA:163746
6663	SOX10	HP:0000506	Telecanthus	HP:0040283	ORPHA:895
6663	SOX10	HP:0000508	Ptosis	HP:0040283	ORPHA:478
6663	SOX10	HP:0000508	Ptosis	HP:0040283	ORPHA:895
6663	SOX10	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
6663	SOX10	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:897
6663	SOX10	HP:0000534	Abnormal eyebrow morphology	HP:0040282	ORPHA:163746
6663	SOX10	HP:0000534	Abnormal eyebrow morphology	HP:0040281	ORPHA:897
6663	SOX10	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
6663	SOX10	HP:0000545	Myopia	1/3	OMIM:609136
6664	SOX11	HP:0009928	Thick nasal alae	HP:0040282	ORPHA:1465
6664	SOX11	HP:0009891	Underdeveloped supraorbital ridges	1/2	OMIM:615866
6664	SOX11	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:1465
6664	SOX11	HP:0009882	Short distal phalanx of finger	1/2	OMIM:615866
6664	SOX11	HP:0009879	Simplified gyral pattern	HP:0040283	ORPHA:1465
6664	SOX11	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:1465
6664	SOX11	HP:0001256	Intellectual disability, mild	2/2	OMIM:615866
6664	SOX11	HP:0001250	Seizure	HP:0040282	ORPHA:1465
6664	SOX11	HP:0001252	Hypotonia	1/2	OMIM:615866
6664	SOX11	HP:0002553	Highly arched eyebrow	1/2	OMIM:615866
6664	SOX11	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:1465
6664	SOX11	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1465
6664	SOX11	HP:0000047	Hypospadias	HP:0040283	ORPHA:1465
6664	SOX11	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1465
6664	SOX11	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:1465
6664	SOX11	HP:0000013	Hypoplasia of the uterus	1/2	OMIM:615866
6664	SOX11	HP:0001344	Absent speech	HP:0040283	ORPHA:1465
6664	SOX11	HP:0000006	Autosomal dominant inheritance	-	OMIM:615866
6664	SOX11	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:1465
6664	SOX11	HP:0002650	Scoliosis	HP:0040282	ORPHA:1465
6664	SOX11	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:1465
6664	SOX11	HP:0000194	Open mouth	1/2	OMIM:615866
6664	SOX11	HP:0000154	Wide mouth	HP:0040281	ORPHA:1465
6664	SOX11	HP:0008947	Floppy infant	HP:0040282	ORPHA:1465
6664	SOX11	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:1465
6664	SOX11	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:1465
6664	SOX11	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:1465
6664	SOX11	HP:0002719	Recurrent infections	HP:0040282	ORPHA:1465
6664	SOX11	HP:0002033	Poor suck	1/2	OMIM:615866
6664	SOX11	HP:0011800	Midface retrusion	1/2	OMIM:615866
6664	SOX11	HP:0011937	Hypoplastic fifth toenail	HP:0040282	ORPHA:1465
6664	SOX11	HP:0011937	Hypoplastic fifth toenail	2/2	OMIM:615866
6664	SOX11	HP:0004712	Renal malrotation	1/2	OMIM:615866
6664	SOX11	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:1465
6664	SOX11	HP:0002209	Sparse scalp hair	1/2	OMIM:615866
6664	SOX11	HP:0100790	Hernia	HP:0040283	ORPHA:1465
6664	SOX11	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:1465
6664	SOX11	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:1465
6664	SOX11	HP:0008398	Hypoplastic fifth fingernail	HP:0040282	ORPHA:1465
6664	SOX11	HP:0008398	Hypoplastic fifth fingernail	2/2	OMIM:615866
6664	SOX11	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:1465
6664	SOX11	HP:0001007	Hirsutism	HP:0040282	ORPHA:1465
6664	SOX11	HP:0009765	Low hanging columella	1/2	OMIM:615866
6664	SOX11	HP:0003623	Neonatal onset	1/2	OMIM:615866
6664	SOX11	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:1465
6664	SOX11	HP:0000684	Delayed eruption of teeth	1/2	OMIM:615866
6664	SOX11	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:1465
6664	SOX11	HP:0004322	Short stature	2/2	OMIM:615866
6664	SOX11	HP:0012745	Short palpebral fissure	1/2	OMIM:615866
6664	SOX11	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1465
6664	SOX11	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:1465
6664	SOX11	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1465
6664	SOX11	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1465
6664	SOX11	HP:0011463	Childhood onset	1/2	OMIM:615866
6664	SOX11	HP:0003196	Short nose	1/2	OMIM:615866
6664	SOX11	HP:0003196	Short nose	HP:0040282	ORPHA:1465
6664	SOX11	HP:0003189	Long nose	1/2	OMIM:615866
6664	SOX11	HP:0012810	Wide nasal base	HP:0040282	ORPHA:1465
6664	SOX11	HP:0000824	Decreased response to growth hormone stimulation test	0/1	OMIM:615866
6664	SOX11	HP:0000823	Delayed puberty	1/2	OMIM:615866
6664	SOX11	HP:0009237	Short 5th finger	HP:0040282	ORPHA:1465
6664	SOX11	HP:0000998	Hypertrichosis	HP:0040281	ORPHA:1465
6664	SOX11	HP:0000998	Hypertrichosis	2/2	OMIM:615866
6664	SOX11	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1465
6664	SOX11	HP:0000293	Full cheeks	2/2	OMIM:615866
6664	SOX11	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:1465
6664	SOX11	HP:0000289	Broad philtrum	HP:0040282	ORPHA:1465
6664	SOX11	HP:0030084	Clinodactyly	2/2	OMIM:615866
6664	SOX11	HP:0030084	Clinodactyly	HP:0040282	ORPHA:1465
6664	SOX11	HP:0000252	Microcephaly	HP:0040284	ORPHA:1465
6664	SOX11	HP:0000252	Microcephaly	2/2	OMIM:615866
6664	SOX11	HP:0002884	Hepatoblastoma	HP:0040284	ORPHA:1465
6664	SOX11	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:1465
6664	SOX11	HP:0000218	High palate	1/2	OMIM:615866
6664	SOX11	HP:0002895	Papillary thyroid carcinoma	HP:0040284	ORPHA:1465
6664	SOX11	HP:0000232	Everted lower lip vermilion	2/2	OMIM:615866
6664	SOX11	HP:0001511	Intrauterine growth retardation	2/2	OMIM:615866
6664	SOX11	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:1465
6664	SOX11	HP:0001510	Growth delay	2/2	OMIM:615866
6664	SOX11	HP:0001510	Growth delay	HP:0040282	ORPHA:1465
6664	SOX11	HP:0000365	Hearing impairment	HP:0040282	ORPHA:1465
6664	SOX11	HP:0000358	Posteriorly rotated ears	2/2	OMIM:615866
6664	SOX11	HP:0000369	Low-set ears	2/2	OMIM:615866
6664	SOX11	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1465
6664	SOX11	HP:0000331	Short chin	1/2	OMIM:615866
6664	SOX11	HP:0000322	Short philtrum	1/2	OMIM:615866
6664	SOX11	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:1465
6664	SOX11	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:1465
6664	SOX11	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1465
6664	SOX11	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1465
6664	SOX11	HP:0005280	Depressed nasal bridge	1/2	OMIM:615866
6664	SOX11	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1465
6664	SOX11	HP:0000486	Strabismus	HP:0040282	ORPHA:1465
6664	SOX11	HP:0012471	Thick vermilion border	1/2	OMIM:615866
6664	SOX11	HP:0001792	Small nail	HP:0040281	ORPHA:1465
6664	SOX11	HP:0000463	Anteverted nares	1/2	OMIM:615866
6664	SOX11	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1465
6664	SOX11	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:1465
6664	SOX11	HP:0000430	Underdeveloped nasal alae	1/2	OMIM:615866
6664	SOX11	HP:0000527	Long eyelashes	1/2	OMIM:615866
6664	SOX11	HP:0000508	Ptosis	1/2	OMIM:615866
6664	SOX11	HP:0000508	Ptosis	HP:0040282	ORPHA:1465
6664	SOX11	HP:0000505	Visual impairment	HP:0040282	ORPHA:1465
6664	SOX11	HP:0011231	Prominent eyelashes	HP:0040281	ORPHA:1465
6664	SOX11	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:1465
6664	SOX11	HP:0012523	Oral aversion	HP:0040283	ORPHA:1465
6664	SOX11	HP:0000545	Myopia	HP:0040283	ORPHA:1465
6674	SPAG1	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
6674	SPAG1	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
6674	SPAG1	HP:0001217	Clubbing	HP:0040283	ORPHA:244
6674	SPAG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615505
6674	SPAG1	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
6674	SPAG1	HP:0002643	Neonatal respiratory distress	11/13	OMIM:615505
6674	SPAG1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
6674	SPAG1	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
6674	SPAG1	HP:0031245	Productive cough	HP:0040282	ORPHA:244
6674	SPAG1	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
6674	SPAG1	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
6674	SPAG1	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
6674	SPAG1	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
6674	SPAG1	HP:0002110	Bronchiectasis	6/12	OMIM:615505
6674	SPAG1	HP:0008222	Female infertility	HP:0040283	ORPHA:244
6674	SPAG1	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
6674	SPAG1	HP:0002205	Recurrent respiratory infections	-	OMIM:615505
6674	SPAG1	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
6674	SPAG1	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
6674	SPAG1	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
6674	SPAG1	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	-	OMIM:615505
6674	SPAG1	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
6674	SPAG1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
6674	SPAG1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
6674	SPAG1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
6674	SPAG1	HP:0004469	Chronic bronchitis	-	OMIM:615505
6674	SPAG1	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
6674	SPAG1	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
6674	SPAG1	HP:0030828	Wheezing	HP:0040283	ORPHA:244
6674	SPAG1	HP:0003251	Male infertility	HP:0040282	ORPHA:244
6674	SPAG1	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
6674	SPAG1	HP:0033036	Decreased nasal nitric oxide	8/8	OMIM:615505
6674	SPAG1	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
6674	SPAG1	HP:0012265	Ciliary dyskinesia	-	OMIM:615505
6674	SPAG1	HP:0012255	Dynein arm defect of respiratory motile cilia	14/14	OMIM:615505
6674	SPAG1	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
6674	SPAG1	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
6674	SPAG1	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
6674	SPAG1	HP:0012384	Rhinitis	-	OMIM:615505
6674	SPAG1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
6674	SPAG1	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
6674	SPAG1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
6674	SPAG1	HP:0001696	Situs inversus totalis	9/14	OMIM:615505
6674	SPAG1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
6674	SPAG1	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
6674	SPAG1	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
6674	SPAG1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
6674	SPAG1	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
6674	SPAG1	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
6674	SPAG1	HP:0000403	Recurrent otitis media	9/11	OMIM:615505
6674	SPAG1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
6674	SPAG1	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
6674	SPAG1	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
6674	SPAG1	HP:0011108	Recurrent sinusitis	10/12	OMIM:615505
6674	SPAG1	HP:0001746	Asplenia	HP:0040284	ORPHA:244
6674	SPAG1	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
6674	SPAG1	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
6674	SPAG1	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
6674	SPAG1	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
6674	SPAG1	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
6678	SPARC	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6678	SPARC	HP:0001293	Cranial nerve compression	-	OMIM:131300
6678	SPARC	HP:0001256	Intellectual disability, mild	-	OMIM:259770
6678	SPARC	HP:0001252	Hypotonia	1/2	OMIM:616507
6678	SPARC	HP:0001252	Hypotonia	-	OMIM:259770
6678	SPARC	HP:0001252	Hypotonia	2/7	OMIM:615777
6678	SPARC	HP:0001249	Intellectual disability	5/7	OMIM:615777
6678	SPARC	HP:0001263	Global developmental delay	1/1	OMIM:612394
6678	SPARC	HP:0001263	Global developmental delay	-	OMIM:615777
6678	SPARC	HP:0003865	Bowed humerus	1/2	OMIM:616507
6678	SPARC	HP:0002515	Waddling gait	54/102	OMIM:131300
6678	SPARC	HP:0006086	Thin metacarpal cortices	1/2	OMIM:616507
6678	SPARC	HP:0001382	Joint hypermobility	-	OMIM:259770
6678	SPARC	HP:0001382	Joint hypermobility	-	OMIM:615777
6678	SPARC	HP:0001382	Joint hypermobility	2/2	OMIM:616507
6678	SPARC	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
6678	SPARC	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6678	SPARC	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6678	SPARC	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
6678	SPARC	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
6678	SPARC	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
6678	SPARC	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6678	SPARC	HP:0001324	Muscle weakness	40/96	OMIM:131300
6678	SPARC	HP:0001324	Muscle weakness	1/2	OMIM:616507
6678	SPARC	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6678	SPARC	HP:0000007	Autosomal recessive inheritance	-	OMIM:616507
6678	SPARC	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
6678	SPARC	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6678	SPARC	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
6678	SPARC	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6678	SPARC	HP:0002650	Scoliosis	1/5	OMIM:259770
6678	SPARC	HP:0002650	Scoliosis	1/1	OMIM:612394
6678	SPARC	HP:0002650	Scoliosis	12/14	OMIM:131300
6678	SPARC	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6678	SPARC	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6678	SPARC	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6678	SPARC	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6678	SPARC	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
6678	SPARC	HP:0000175	Cleft palate	2/7	OMIM:615777
6678	SPARC	HP:0002757	Recurrent fractures	4/5	OMIM:259770
6678	SPARC	HP:0002757	Recurrent fractures	2/2	OMIM:616507
6678	SPARC	HP:0002756	Pathologic fracture	-	OMIM:259770
6678	SPARC	HP:0002756	Pathologic fracture	1/1	OMIM:612394
6678	SPARC	HP:0002751	Kyphoscoliosis	-	OMIM:259770
6678	SPARC	HP:0002751	Kyphoscoliosis	2/2	OMIM:616507
6678	SPARC	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
6678	SPARC	HP:0003396	Syringomyelia	1/2	OMIM:616507
6678	SPARC	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
6678	SPARC	HP:0003388	Easy fatigability	36/76	OMIM:131300
6678	SPARC	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6678	SPARC	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
6678	SPARC	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
6678	SPARC	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
6678	SPARC	HP:0002194	Delayed gross motor development	1/2	OMIM:616507
6678	SPARC	HP:0002164	Nail dysplasia	1/1	OMIM:612394
6678	SPARC	HP:0010557	Overlapping fingers	1/2	OMIM:612394
6678	SPARC	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
6678	SPARC	HP:0003593	Infantile onset	1/5	OMIM:259770
6678	SPARC	HP:0003593	Infantile onset	1/2	OMIM:616507
6678	SPARC	HP:0003577	Congenital onset	4/5	OMIM:259770
6678	SPARC	HP:0002208	Coarse hair	1/1	OMIM:612394
6678	SPARC	HP:0003510	Severe short stature	7/7	OMIM:615777
6678	SPARC	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
6678	SPARC	HP:0025019	Arterial rupture	1/1	OMIM:612394
6678	SPARC	HP:0002315	Headache	-	OMIM:131300
6678	SPARC	HP:0004976	Knee dislocation	6/7	OMIM:615777
6678	SPARC	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
6678	SPARC	HP:0009803	Short phalanx of finger	-	OMIM:615777
6678	SPARC	HP:0001089	Iris atrophy	-	OMIM:259770
6678	SPARC	HP:0009763	Limb pain	63/92	OMIM:131300
6678	SPARC	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
6678	SPARC	HP:0003621	Juvenile onset	-	OMIM:131300
6678	SPARC	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
6678	SPARC	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6678	SPARC	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6678	SPARC	HP:6001056	Out-toeing	-	OMIM:131300
6678	SPARC	HP:0000651	Diplopia	-	OMIM:131300
6678	SPARC	HP:0000618	Blindness	5/5	OMIM:259770
6678	SPARC	HP:0001956	Truncal obesity	2/7	OMIM:615777
6678	SPARC	HP:0001903	Anemia	HP:0040283	OMIM:131300
6678	SPARC	HP:0010049	Short metacarpal	-	OMIM:615777
6678	SPARC	HP:0000678	Dental crowding	-	OMIM:615777
6678	SPARC	HP:0000670	Carious teeth	-	OMIM:131300
6678	SPARC	HP:0011304	Broad thumb	2/7	OMIM:615777
6678	SPARC	HP:0000668	Hypodontia	-	OMIM:615777
6678	SPARC	HP:0000667	Phthisis bulbi	-	OMIM:259770
6678	SPARC	HP:0000664	Synophrys	-	OMIM:615777
6678	SPARC	HP:0004322	Short stature	1/2	OMIM:616507
6678	SPARC	HP:0004322	Short stature	-	OMIM:259770
6678	SPARC	HP:0004396	Poor appetite	-	OMIM:131300
6678	SPARC	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6678	SPARC	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6678	SPARC	HP:0003016	Metaphyseal widening	-	OMIM:259770
6678	SPARC	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6678	SPARC	HP:0003026	Short long bone	7/7	OMIM:615777
6678	SPARC	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6678	SPARC	HP:0004349	Reduced bone mineral density	2/2	OMIM:616507
6678	SPARC	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6678	SPARC	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6678	SPARC	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6678	SPARC	HP:0000750	Delayed speech and language development	1/2	OMIM:616507
6678	SPARC	HP:0000750	Delayed speech and language development	-	OMIM:615777
6678	SPARC	HP:0000703	Dentinogenesis imperfecta	0/2	OMIM:616507
6678	SPARC	HP:0011463	Childhood onset	1/2	OMIM:616507
6678	SPARC	HP:0011461	Fetal onset	7/7	OMIM:615777
6678	SPARC	HP:0011461	Fetal onset	2/2	OMIM:612394
6678	SPARC	HP:0000774	Narrow chest	2/7	OMIM:615777
6678	SPARC	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
6678	SPARC	HP:0030746	Intraventricular hemorrhage	1/2	OMIM:616507
6678	SPARC	HP:0003199	Decreased muscle mass	1/2	OMIM:616507
6678	SPARC	HP:0003196	Short nose	1/1	OMIM:612394
6678	SPARC	HP:0000926	Platyspondyly	-	OMIM:259770
6678	SPARC	HP:0000926	Platyspondyly	1/7	OMIM:615777
6678	SPARC	HP:0000926	Platyspondyly	1/2	OMIM:616507
6678	SPARC	HP:0000926	Platyspondyly	1/1	OMIM:612394
6678	SPARC	HP:0003180	Flat acetabular roof	-	OMIM:615777
6678	SPARC	HP:0004482	Relative macrocephaly	-	OMIM:615777
6678	SPARC	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6678	SPARC	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
6678	SPARC	HP:0000823	Delayed puberty	-	OMIM:131300
6678	SPARC	HP:0000894	Short clavicles	-	OMIM:615777
6678	SPARC	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
6678	SPARC	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6678	SPARC	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
6678	SPARC	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
6678	SPARC	HP:0000977	Soft skin	1/2	OMIM:616507
6678	SPARC	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6678	SPARC	HP:0000939	Osteoporosis	4/5	OMIM:259770
6678	SPARC	HP:0000939	Osteoporosis	2/2	OMIM:616507
6678	SPARC	HP:0000938	Osteopenia	1/5	OMIM:259770
6678	SPARC	HP:0000938	Osteopenia	1/1	OMIM:612394
6678	SPARC	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
6678	SPARC	HP:0000286	Epicanthus	1/7	OMIM:615777
6678	SPARC	HP:0000280	Coarse facial features	2/7	OMIM:615777
6678	SPARC	HP:0000272	Malar flattening	1/1	OMIM:612394
6678	SPARC	HP:0006470	Thin long bone diaphyses	1/2	OMIM:616507
6678	SPARC	HP:0007773	Vitreoretinopathy	-	OMIM:259770
6678	SPARC	HP:0002827	Hip dislocation	3/7	OMIM:615777
6678	SPARC	HP:0002827	Hip dislocation	1/2	OMIM:616507
6678	SPARC	HP:0002808	Kyphosis	1/5	OMIM:259770
6678	SPARC	HP:0000252	Microcephaly	-	OMIM:259770
6678	SPARC	HP:0000252	Microcephaly	-	OMIM:615777
6678	SPARC	HP:0001552	Barrel-shaped chest	-	OMIM:259770
6678	SPARC	HP:0002857	Genu valgum	-	OMIM:131300
6678	SPARC	HP:0001533	Slender build	-	OMIM:131300
6678	SPARC	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6678	SPARC	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
6678	SPARC	HP:0007807	Optic nerve compression	-	OMIM:131300
6678	SPARC	HP:0012368	Flat face	7/7	OMIM:615777
6678	SPARC	HP:0012368	Flat face	1/1	OMIM:612394
6678	SPARC	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
6678	SPARC	HP:0007875	Congenital blindness	4/5	OMIM:259770
6678	SPARC	HP:0007862	Retinal calcification	1/5	OMIM:259770
6678	SPARC	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6678	SPARC	HP:0000365	Hearing impairment	10/67	OMIM:131300
6678	SPARC	HP:0000364	Hearing abnormality	0/2	OMIM:616507
6678	SPARC	HP:0000369	Low-set ears	2/2	OMIM:612394
6678	SPARC	HP:0000343	Long philtrum	1/7	OMIM:615777
6678	SPARC	HP:0011001	Increased bone mineral density	-	OMIM:131300
6678	SPARC	HP:0002982	Tibial bowing	1/5	OMIM:259770
6678	SPARC	HP:0000311	Round face	2/7	OMIM:615777
6678	SPARC	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
6678	SPARC	HP:0001629	Ventricular septal defect	-	OMIM:259770
6678	SPARC	HP:0002953	Vertebral compression fracture	2/2	OMIM:616507
6678	SPARC	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
6678	SPARC	HP:0002970	Genu varum	-	OMIM:615777
6678	SPARC	HP:0000307	Pointed chin	1/2	OMIM:612394
6678	SPARC	HP:0000303	Mandibular prognathia	-	OMIM:131300
6678	SPARC	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
6678	SPARC	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6678	SPARC	HP:0000463	Anteverted nares	1/1	OMIM:612394
6678	SPARC	HP:0000470	Short neck	1/7	OMIM:615777
6678	SPARC	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6678	SPARC	HP:0001763	Pes planus	1/7	OMIM:615777
6678	SPARC	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
6678	SPARC	HP:0000518	Cataract	1/5	OMIM:259770
6678	SPARC	HP:0000518	Cataract	1/1	OMIM:612394
6678	SPARC	HP:0001840	Metatarsus adductus	-	OMIM:615777
6678	SPARC	HP:0000520	Proptosis	2/4	OMIM:131300
6678	SPARC	HP:0000520	Proptosis	7/7	OMIM:615777
6678	SPARC	HP:0000592	Blue sclerae	2/7	OMIM:615777
6678	SPARC	HP:0000586	Shallow orbits	1/1	OMIM:612394
6678	SPARC	HP:0000568	Microphthalmia	1/5	OMIM:259770
6678	SPARC	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6678	SPARC	HP:0012514	Lower limb pain	4/4	OMIM:131300
6678	SPARC	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
6678	SPARC	HP:0000545	Myopia	1/1	OMIM:612394
6683	SPAST	HP:0003743	Genetic anticipation	-	OMIM:182601
6683	SPAST	HP:0001250	Seizure	HP:0040284	ORPHA:100985
6683	SPAST	HP:0001251	Ataxia	HP:0040284	ORPHA:100985
6683	SPAST	HP:0001249	Intellectual disability	HP:0040284	ORPHA:100985
6683	SPAST	HP:0001249	Intellectual disability	-	OMIM:182601
6683	SPAST	HP:0001260	Dysarthria	HP:0040283	ORPHA:100985
6683	SPAST	HP:0001258	Spastic paraplegia	-	OMIM:182601
6683	SPAST	HP:0001257	Spasticity	HP:0040282	ORPHA:100985
6683	SPAST	HP:0007350	Upper limb hyperreflexia	HP:0040283	ORPHA:100985
6683	SPAST	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:100985
6683	SPAST	HP:0007340	Lower limb muscle weakness	-	OMIM:182601
6683	SPAST	HP:0003828	Variable expressivity	-	OMIM:182601
6683	SPAST	HP:0000020	Urinary incontinence	-	OMIM:182601
6683	SPAST	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:100985
6683	SPAST	HP:0001347	Hyperreflexia	-	OMIM:182601
6683	SPAST	HP:0000012	Urinary urgency	HP:0040282	ORPHA:100985
6683	SPAST	HP:0000012	Urinary urgency	-	OMIM:182601
6683	SPAST	HP:0000006	Autosomal dominant inheritance	-	OMIM:182601
6683	SPAST	HP:0008969	Leg muscle stiffness	HP:0040282	ORPHA:100985
6683	SPAST	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:100985
6683	SPAST	HP:0002064	Spastic gait	-	OMIM:182601
6683	SPAST	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:100985
6683	SPAST	HP:0002061	Lower limb spasticity	-	OMIM:182601
6683	SPAST	HP:0003487	Babinski sign	-	OMIM:182601
6683	SPAST	HP:0003487	Babinski sign	HP:0040282	ORPHA:100985
6683	SPAST	HP:0003419	Low back pain	-	OMIM:182601
6683	SPAST	HP:0002166	Impaired vibration sensation in the lower limbs	-	OMIM:182601
6683	SPAST	HP:0010550	Paraplegia	-	OMIM:182601
6683	SPAST	HP:0003587	Insidious onset	-	OMIM:182601
6683	SPAST	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:100985
6683	SPAST	HP:0003676	Progressive	-	OMIM:182601
6683	SPAST	HP:0002354	Memory impairment	-	OMIM:182601
6683	SPAST	HP:0002314	Degeneration of the lateral corticospinal tracts	-	OMIM:182601
6683	SPAST	HP:0000639	Nystagmus	-	OMIM:182601
6683	SPAST	HP:0004302	Functional motor deficit	HP:0040282	ORPHA:100985
6683	SPAST	HP:0006938	Impaired vibration sensation at ankles	HP:0040282	ORPHA:100985
6683	SPAST	HP:0000734	Disinhibition	-	OMIM:182601
6683	SPAST	HP:0000741	Apathy	-	OMIM:182601
6683	SPAST	HP:0000716	Depression	-	OMIM:182601
6683	SPAST	HP:0000718	Aggressive behavior	-	OMIM:182601
6683	SPAST	HP:0000713	Agitation	-	OMIM:182601
6683	SPAST	HP:0000726	Dementia	-	OMIM:182601
6683	SPAST	HP:0011448	Ankle clonus	HP:0040282	ORPHA:100985
6683	SPAST	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040283	ORPHA:100985
6683	SPAST	HP:0002839	Urinary bladder sphincter dysfunction	-	OMIM:182601
6683	SPAST	HP:0001761	Pes cavus	HP:0040283	ORPHA:100985
6687	SPG7	HP:0002497	Spastic ataxia	33/42	OMIM:607259
6687	SPG7	HP:0002493	Upper motor neuron dysfunction	HP:0040281	ORPHA:35689
6687	SPG7	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:35689
6687	SPG7	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:99013
6687	SPG7	HP:0010873	Cervical spinal cord atrophy	HP:0040283	ORPHA:35689
6687	SPG7	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:99013
6687	SPG7	HP:0001272	Cerebellar atrophy	41/43	OMIM:607259
6687	SPG7	HP:0001288	Gait disturbance	3/3	OMIM:607259
6687	SPG7	HP:0001260	Dysarthria	HP:0040283	ORPHA:99013
6687	SPG7	HP:0001260	Dysarthria	3/3	OMIM:607259
6687	SPG7	HP:0001258	Spastic paraplegia	-	OMIM:607259
6687	SPG7	HP:0001257	Spasticity	HP:0040281	ORPHA:35689
6687	SPG7	HP:0007377	Abnormality of somatosensory evoked potentials	0/3	OMIM:607259
6687	SPG7	HP:0007350	Upper limb hyperreflexia	0/3	OMIM:607259
6687	SPG7	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:99013
6687	SPG7	HP:0007340	Lower limb muscle weakness	11/45	OMIM:607259
6687	SPG7	HP:0002515	Waddling gait	4/42	OMIM:607259
6687	SPG7	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:99013
6687	SPG7	HP:0000020	Urinary incontinence	1/3	OMIM:607259
6687	SPG7	HP:0001350	Slurred speech	32/42	OMIM:607259
6687	SPG7	HP:0001347	Hyperreflexia	-	OMIM:607259
6687	SPG7	HP:0001328	Specific learning disability	HP:0040284	ORPHA:99013
6687	SPG7	HP:0001324	Muscle weakness	19/42	OMIM:607259
6687	SPG7	HP:0000012	Urinary urgency	HP:0040282	ORPHA:99013
6687	SPG7	HP:0000012	Urinary urgency	-	OMIM:607259
6687	SPG7	HP:0000007	Autosomal recessive inheritance	-	OMIM:607259
6687	SPG7	HP:0000006	Autosomal dominant inheritance	-	OMIM:607259
6687	SPG7	HP:0001310	Dysmetria	13/35	OMIM:607259
6687	SPG7	HP:0002650	Scoliosis	HP:0040283	ORPHA:99013
6687	SPG7	HP:0002650	Scoliosis	-	OMIM:607259
6687	SPG7	HP:0002015	Dysphagia	HP:0040284	ORPHA:99013
6687	SPG7	HP:0002015	Dysphagia	-	OMIM:607259
6687	SPG7	HP:0002015	Dysphagia	HP:0040282	ORPHA:35689
6687	SPG7	HP:0100543	Cognitive impairment	-	OMIM:607259
6687	SPG7	HP:0002066	Gait ataxia	-	OMIM:607259
6687	SPG7	HP:0002064	Spastic gait	HP:0040281	ORPHA:99013
6687	SPG7	HP:0002064	Spastic gait	2/42	OMIM:607259
6687	SPG7	HP:0002064	Spastic gait	HP:0040282	ORPHA:35689
6687	SPG7	HP:0002061	Lower limb spasticity	3/3	OMIM:607259
6687	SPG7	HP:0002075	Dysdiadochokinesis	16/35	OMIM:607259
6687	SPG7	HP:0002070	Limb ataxia	2/3	OMIM:607259
6687	SPG7	HP:0003474	Somatic sensory dysfunction	HP:0040282	ORPHA:99013
6687	SPG7	HP:0003474	Somatic sensory dysfunction	-	ORPHA:35689
6687	SPG7	HP:0003487	Babinski sign	HP:0040282	ORPHA:99013
6687	SPG7	HP:0003487	Babinski sign	22/42	OMIM:607259
6687	SPG7	HP:0003487	Babinski sign	HP:0040281	ORPHA:35689
6687	SPG7	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:99013
6687	SPG7	HP:0003484	Upper limb muscle weakness	3/39	OMIM:607259
6687	SPG7	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:99013
6687	SPG7	HP:0002120	Cerebral cortical atrophy	-	OMIM:607259
6687	SPG7	HP:0002127	Abnormal upper motor neuron morphology	HP:0040281	ORPHA:35689
6687	SPG7	HP:0003444	EMG: chronic denervation signs	HP:0040282	ORPHA:35689
6687	SPG7	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:99013
6687	SPG7	HP:0002166	Impaired vibration sensation in the lower limbs	9/40	OMIM:607259
6687	SPG7	HP:0002172	Postural instability	41/42	OMIM:607259
6687	SPG7	HP:0010549	Weakness due to upper motor neuron dysfunction	HP:0040282	ORPHA:35689
6687	SPG7	HP:0003581	Adult onset	-	OMIM:607259
6687	SPG7	HP:0003552	Muscle stiffness	32/42	OMIM:607259
6687	SPG7	HP:0002200	Pseudobulbar signs	HP:0040282	ORPHA:35689
6687	SPG7	HP:0007034	Generalized hyperreflexia	HP:0040281	ORPHA:35689
6687	SPG7	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:99013
6687	SPG7	HP:0007002	Motor axonal neuropathy	HP:0040283	ORPHA:35689
6687	SPG7	HP:0008322	Abnormal mitochondrial morphology	HP:0040282	ORPHA:99013
6687	SPG7	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:99013
6687	SPG7	HP:0002395	Lower limb hyperreflexia	3/3	OMIM:607259
6687	SPG7	HP:0002366	Abnormal lower motor neuron morphology	-	ORPHA:35689
6687	SPG7	HP:0002371	Loss of speech	HP:0040282	ORPHA:35689
6687	SPG7	HP:0002354	Memory impairment	HP:0040284	ORPHA:99013
6687	SPG7	HP:0002354	Memory impairment	2/3	OMIM:607259
6687	SPG7	HP:0002314	Degeneration of the lateral corticospinal tracts	-	OMIM:607259
6687	SPG7	HP:0200049	Upper limb hypertonia	5/34	OMIM:607259
6687	SPG7	HP:0007164	Slowed slurred speech	HP:0040282	ORPHA:99013
6687	SPG7	HP:0003621	Juvenile onset	1/3	OMIM:607259
6687	SPG7	HP:0007199	Progressive spastic paraparesis	HP:0040282	ORPHA:35689
6687	SPG7	HP:0006827	Atrophy of the spinal cord	HP:0040283	ORPHA:35689
6687	SPG7	HP:0006895	Lower limb hypertonia	HP:0040282	ORPHA:99013
6687	SPG7	HP:0006895	Lower limb hypertonia	39/42	OMIM:607259
6687	SPG7	HP:0000639	Nystagmus	HP:0040282	ORPHA:99013
6687	SPG7	HP:0000639	Nystagmus	18/45	OMIM:607259
6687	SPG7	HP:0000648	Optic atrophy	HP:0040282	ORPHA:99013
6687	SPG7	HP:0000648	Optic atrophy	1/42	OMIM:607259
6687	SPG7	HP:0000605	Supranuclear gaze palsy	HP:0040282	ORPHA:99013
6687	SPG7	HP:0000605	Supranuclear gaze palsy	3/3	OMIM:607259
6687	SPG7	HP:0006986	Upper limb spasticity	0/3	OMIM:607259
6687	SPG7	HP:0011462	Young adult onset	2/3	OMIM:607259
6687	SPG7	HP:0011446	Abnormality of mental function	HP:0040282	ORPHA:99013
6687	SPG7	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:99013
6687	SPG7	HP:0033051	Impaired executive functioning	3/3	OMIM:607259
6687	SPG7	HP:0002839	Urinary bladder sphincter dysfunction	-	OMIM:607259
6687	SPG7	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:99013
6687	SPG7	HP:0000365	Hearing impairment	1/42	OMIM:607259
6687	SPG7	HP:0001761	Pes cavus	HP:0040283	ORPHA:99013
6687	SPG7	HP:0001761	Pes cavus	-	OMIM:607259
6687	SPG7	HP:0000511	Vertical supranuclear gaze palsy	1/42	OMIM:607259
6687	SPG7	HP:0012514	Lower limb pain	HP:0040284	ORPHA:99013
6687	SPG7	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:99013
6688	SPI1	HP:0410255	Transiently decreased total neutrophil count	1/6	OMIM:619707
6688	SPI1	HP:0100806	Sepsis	HP:0040283	ORPHA:33110
6688	SPI1	HP:0001287	Meningitis	1/6	OMIM:619707
6688	SPI1	HP:0001287	Meningitis	HP:0040283	ORPHA:33110
6688	SPI1	HP:0001369	Arthritis	HP:0040282	ORPHA:33110
6688	SPI1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619707
6688	SPI1	HP:0012115	Hepatitis	HP:0040283	ORPHA:33110
6688	SPI1	HP:0002754	Osteomyelitis	HP:0040282	ORPHA:33110
6688	SPI1	HP:0002719	Recurrent infections	HP:0040281	ORPHA:33110
6688	SPI1	HP:0002720	Decreased circulating IgA concentration	6/6	OMIM:619707
6688	SPI1	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:33110
6688	SPI1	HP:0002024	Malabsorption	HP:0040283	ORPHA:33110
6688	SPI1	HP:0002014	Diarrhea	HP:0040281	ORPHA:33110
6688	SPI1	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:33110
6688	SPI1	HP:0003577	Congenital onset	5/5	OMIM:619707
6688	SPI1	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:33110
6688	SPI1	HP:0002205	Recurrent respiratory infections	6/6	OMIM:619707
6688	SPI1	HP:0100651	Type I diabetes mellitus	1/6	OMIM:619707
6688	SPI1	HP:0100658	Cellulitis	HP:0040283	ORPHA:33110
6688	SPI1	HP:0200043	Verrucae	HP:0040283	ORPHA:33110
6688	SPI1	HP:0001944	Dehydration	HP:0040283	ORPHA:33110
6688	SPI1	HP:0001945	Fever	HP:0040281	ORPHA:33110
6688	SPI1	HP:0004315	Decreased circulating IgG concentration	-	OMIM:619707
6688	SPI1	HP:0012735	Cough	HP:0040281	ORPHA:33110
6688	SPI1	HP:0004432	Agammaglobulinemia	6/6	OMIM:619707
6688	SPI1	HP:0004432	Agammaglobulinemia	HP:0040281	ORPHA:33110
6688	SPI1	HP:0000988	Skin rash	HP:0040281	ORPHA:33110
6688	SPI1	HP:0000286	Epicanthus	HP:0040283	ORPHA:33110
6688	SPI1	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:33110
6688	SPI1	HP:0000246	Sinusitis	HP:0040281	ORPHA:33110
6688	SPI1	HP:0000218	High palate	HP:0040283	ORPHA:33110
6688	SPI1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:33110
6688	SPI1	HP:0002850	Decreased circulating total IgM	6/6	OMIM:619707
6688	SPI1	HP:0012378	Fatigue	HP:0040281	ORPHA:33110
6688	SPI1	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:33110
6688	SPI1	HP:0000389	Chronic otitis media	HP:0040281	ORPHA:33110
6688	SPI1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33110
6688	SPI1	HP:0011108	Recurrent sinusitis	6/6	OMIM:619707
6688	SPI1	HP:0030252	Absent circulating B cells	6/6	OMIM:619707
6688	SPI1	HP:0000509	Conjunctivitis	HP:0040281	ORPHA:33110
6688	SPI1	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33110
6689	SPIB	HP:0002480	Hepatic encephalopathy	HP:0040283	ORPHA:186
6689	SPIB	HP:0001114	Xanthelasma	HP:0040282	ORPHA:186
6689	SPIB	HP:0001278	Orthostatic hypotension	HP:0040282	ORPHA:186
6689	SPIB	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:186
6689	SPIB	HP:0002570	Steatorrhea	HP:0040283	ORPHA:186
6689	SPIB	HP:0001399	Hepatic failure	HP:0040282	ORPHA:186
6689	SPIB	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:186
6689	SPIB	HP:0001394	Cirrhosis	HP:0040281	ORPHA:186
6689	SPIB	HP:0002613	Biliary cirrhosis	HP:0040281	ORPHA:186
6689	SPIB	HP:0002608	Celiac disease	HP:0040283	ORPHA:186
6689	SPIB	HP:0012115	Hepatitis	HP:0040283	ORPHA:186
6689	SPIB	HP:0001409	Portal hypertension	HP:0040282	ORPHA:186
6689	SPIB	HP:0001402	Hepatocellular carcinoma	HP:0040282	ORPHA:186
6689	SPIB	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040282	ORPHA:186
6689	SPIB	HP:0002040	Esophageal varix	HP:0040283	ORPHA:186
6689	SPIB	HP:0003496	Increased circulating IgM level	HP:0040282	ORPHA:186
6689	SPIB	HP:0003493	Antinuclear antibody positivity	HP:0040282	ORPHA:186
6689	SPIB	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:186
6689	SPIB	HP:0011971	Dermatographic urticaria	HP:0040281	ORPHA:186
6689	SPIB	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:186
6689	SPIB	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:186
6689	SPIB	HP:0004386	Gastrointestinal inflammation	HP:0040284	ORPHA:186
6689	SPIB	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:186
6689	SPIB	HP:0003119	Abnormal circulating lipid concentration	HP:0040282	ORPHA:186
6689	SPIB	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:186
6689	SPIB	HP:0000820	Abnormality of the thyroid gland	HP:0040282	ORPHA:186
6689	SPIB	HP:0003270	Abdominal distention	HP:0040283	ORPHA:186
6689	SPIB	HP:0003261	Increased circulating IgA concentration	HP:0040283	ORPHA:186
6689	SPIB	HP:0000989	Pruritus	HP:0040282	ORPHA:186
6689	SPIB	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:186
6689	SPIB	HP:0000952	Jaundice	HP:0040282	ORPHA:186
6689	SPIB	HP:0000939	Osteoporosis	HP:0040283	ORPHA:186
6689	SPIB	HP:0012203	Onychomycosis	HP:0040282	ORPHA:186
6689	SPIB	HP:0001541	Ascites	HP:0040283	ORPHA:186
6689	SPIB	HP:0002841	Recurrent fungal infections	HP:0040282	ORPHA:186
6689	SPIB	HP:0012378	Fatigue	HP:0040283	ORPHA:186
6689	SPIB	HP:0011040	Abnormal intrahepatic bile duct morphology	HP:0040282	ORPHA:186
6689	SPIB	HP:0002908	Conjugated hyperbilirubinemia	HP:0040281	ORPHA:186
6689	SPIB	HP:0002960	Autoimmunity	HP:0040282	ORPHA:186
6689	SPIB	HP:0030167	Antimitochondrial antibody positivity	HP:0040281	ORPHA:186
6689	SPIB	HP:0001744	Splenomegaly	HP:0040283	ORPHA:186
6690	SPINK1	HP:0002570	Steatorrhea	-	OMIM:167800
6690	SPINK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608189
6690	SPINK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:167800
6690	SPINK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:608189
6690	SPINK1	HP:0410019	Epigastric pain	HP:0040281	ORPHA:103918
6690	SPINK1	HP:0006280	Chronic pancreatitis	-	OMIM:608189
6690	SPINK1	HP:0002018	Nausea	HP:0040282	ORPHA:103918
6690	SPINK1	HP:0002027	Abdominal pain	-	OMIM:167800
6690	SPINK1	HP:0002027	Abdominal pain	-	OMIM:608189
6690	SPINK1	HP:0030992	Abnormal pancreatic duct morphology	HP:0040282	ORPHA:103918
6690	SPINK1	HP:0002013	Vomiting	HP:0040283	ORPHA:103918
6690	SPINK1	HP:0008205	Insulin-dependent but ketosis-resistant diabetes	HP:0040282	ORPHA:103918
6690	SPINK1	HP:0008205	Insulin-dependent but ketosis-resistant diabetes	-	OMIM:608189
6690	SPINK1	HP:0002202	Pleural effusion	-	OMIM:167800
6690	SPINK1	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:103918
6690	SPINK1	HP:0001977	Abnormal thrombosis	-	OMIM:167800
6690	SPINK1	HP:0001945	Fever	-	OMIM:167800
6690	SPINK1	HP:0004395	Malnutrition	HP:0040283	ORPHA:103918
6690	SPINK1	HP:0000819	Diabetes mellitus	-	OMIM:167800
6690	SPINK1	HP:0000952	Jaundice	HP:0040283	ORPHA:103918
6690	SPINK1	HP:0002894	Neoplasm of the pancreas	-	OMIM:608189
6690	SPINK1	HP:0005236	Chronic calcifying pancreatitis	HP:0040281	ORPHA:103918
6690	SPINK1	HP:0005213	Pancreatic calcification	HP:0040281	ORPHA:103918
6690	SPINK1	HP:0005213	Pancreatic calcification	20/20	OMIM:608189
6690	SPINK1	HP:0005213	Pancreatic calcification	-	OMIM:167800
6690	SPINK1	HP:0005206	Pancreatic pseudocyst	-	OMIM:167800
6690	SPINK1	HP:0001738	Exocrine pancreatic insufficiency	-	OMIM:167800
6690	SPINK1	HP:0001733	Pancreatitis	-	OMIM:167800
6690	SPINK1	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:103918
6690	SPINK1	HP:0001824	Weight loss	HP:0040283	ORPHA:103918
6691	SPINK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618091
6691	SPINK2	HP:0011961	Non-obstructive azoospermia	2/2	OMIM:618091
6691	SPINK2	HP:0011462	Young adult onset	2/2	OMIM:618091
6691	SPINK2	HP:0003251	Male infertility	2/2	OMIM:618091
6691	SPINK2	HP:0012208	Immotile sperm	2/2	OMIM:618091
6694	SPP2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
6694	SPP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
6694	SPP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
6694	SPP2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
6694	SPP2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
6694	SPP2	HP:0003621	Juvenile onset	8/19	OMIM:180100
6694	SPP2	HP:0000662	Nyctalopia	26/28	OMIM:180100
6694	SPP2	HP:0011463	Childhood onset	3/19	OMIM:180100
6694	SPP2	HP:0011462	Young adult onset	8/19	OMIM:180100
6694	SPP2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
6694	SPP2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
6694	SPP2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
6694	SPP2	HP:0000575	Scotoma	5/18	OMIM:180100
6694	SPP2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
6694	SPP2	HP:0000545	Myopia	-	OMIM:180100
6696	SPP1	HP:0002463	Language impairment	HP:0040284	ORPHA:93552
6696	SPP1	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
6696	SPP1	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
6696	SPP1	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
6696	SPP1	HP:0001250	Seizure	HP:0040283	ORPHA:536
6696	SPP1	HP:0001250	Seizure	HP:0040283	ORPHA:93552
6696	SPP1	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:93552
6696	SPP1	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
6696	SPP1	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:93552
6696	SPP1	HP:0000093	Proteinuria	HP:0040282	ORPHA:93552
6696	SPP1	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
6696	SPP1	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:93552
6696	SPP1	HP:0025343	Lupus anticoagulant	HP:0040283	ORPHA:93552
6696	SPP1	HP:0001369	Arthritis	HP:0040283	ORPHA:93552
6696	SPP1	HP:0001369	Arthritis	HP:0040282	ORPHA:536
6696	SPP1	HP:0033834	Malaise	HP:0040281	ORPHA:536
6696	SPP1	HP:0012085	Pyuria	HP:0040282	ORPHA:536
6696	SPP1	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
6696	SPP1	HP:0025300	Malar rash	HP:0040283	ORPHA:93552
6696	SPP1	HP:0025300	Malar rash	HP:0040282	ORPHA:536
6696	SPP1	HP:0001324	Muscle weakness	HP:0040283	ORPHA:93552
6696	SPP1	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:93552
6696	SPP1	HP:0000155	Oral ulcer	HP:0040283	ORPHA:93552
6696	SPP1	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
6696	SPP1	HP:0000123	Nephritis	HP:0040282	ORPHA:93552
6696	SPP1	HP:0000100	Nephrotic syndrome	HP:0040282	ORPHA:93552
6696	SPP1	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:93552
6696	SPP1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
6696	SPP1	HP:0002725	Systemic lupus erythematosus	HP:0040283	ORPHA:93552
6696	SPP1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:93552
6696	SPP1	HP:0040319	Dark urine	HP:0040283	ORPHA:93552
6696	SPP1	HP:0002014	Diarrhea	HP:0040284	ORPHA:93552
6696	SPP1	HP:0002013	Vomiting	HP:0040283	ORPHA:93552
6696	SPP1	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:93552
6696	SPP1	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:93552
6696	SPP1	HP:0002094	Dyspnea	HP:0040283	ORPHA:93552
6696	SPP1	HP:0002072	Chorea	HP:0040284	ORPHA:536
6696	SPP1	HP:0002039	Anorexia	HP:0040281	ORPHA:536
6696	SPP1	HP:0003453	Antineutrophil antibody positivity	HP:0040284	ORPHA:93552
6696	SPP1	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
6696	SPP1	HP:0003493	Antinuclear antibody positivity	HP:0040282	ORPHA:93552
6696	SPP1	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
6696	SPP1	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040281	ORPHA:93552
6696	SPP1	HP:0002202	Pleural effusion	HP:0040282	ORPHA:93552
6696	SPP1	HP:0100749	Chest pain	HP:0040284	ORPHA:93552
6696	SPP1	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
6696	SPP1	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
6696	SPP1	HP:0002315	Headache	HP:0040283	ORPHA:93552
6696	SPP1	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
6696	SPP1	HP:0100614	Myositis	HP:0040284	ORPHA:93552
6696	SPP1	HP:0002301	Hemiplegia	HP:0040283	ORPHA:93552
6696	SPP1	HP:0003613	Antiphospholipid antibody positivity	HP:0040282	ORPHA:93552
6696	SPP1	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
6696	SPP1	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
6696	SPP1	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
6696	SPP1	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
6696	SPP1	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
6696	SPP1	HP:0001945	Fever	HP:0040281	ORPHA:536
6696	SPP1	HP:0001945	Fever	HP:0040282	ORPHA:93552
6696	SPP1	HP:0001937	Microangiopathic hemolytic anemia	HP:0040282	ORPHA:93552
6696	SPP1	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:93552
6696	SPP1	HP:0000716	Depression	HP:0040283	ORPHA:536
6696	SPP1	HP:0000709	Psychosis	HP:0040283	ORPHA:93552
6696	SPP1	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:93552
6696	SPP1	HP:0000790	Hematuria	HP:0040282	ORPHA:93552
6696	SPP1	HP:0000790	Hematuria	HP:0040282	ORPHA:536
6696	SPP1	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
6696	SPP1	HP:0000822	Hypertension	HP:0040282	ORPHA:536
6696	SPP1	HP:0030880	Raynaud phenomenon	HP:0040284	ORPHA:93552
6696	SPP1	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
6696	SPP1	HP:0045042	Decreased circulating complement C4 concentration	HP:0040281	ORPHA:93552
6696	SPP1	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
6696	SPP1	HP:0003270	Abdominal distention	HP:0040283	ORPHA:93552
6696	SPP1	HP:0045073	Serositis	HP:0040283	ORPHA:536
6696	SPP1	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
6696	SPP1	HP:0000988	Skin rash	HP:0040282	ORPHA:93552
6696	SPP1	HP:0000951	Abnormality of the skin	HP:0040282	ORPHA:93552
6696	SPP1	HP:0000969	Edema	HP:0040282	ORPHA:93552
6696	SPP1	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
6696	SPP1	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
6696	SPP1	HP:0001596	Alopecia	HP:0040284	ORPHA:93552
6696	SPP1	HP:0001596	Alopecia	HP:0040282	ORPHA:536
6696	SPP1	HP:0002829	Arthralgia	HP:0040283	ORPHA:93552
6696	SPP1	HP:0001541	Ascites	HP:0040283	ORPHA:93552
6696	SPP1	HP:0012378	Fatigue	HP:0040281	ORPHA:536
6696	SPP1	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040282	ORPHA:93552
6696	SPP1	HP:0001698	Pericardial effusion	HP:0040282	ORPHA:93552
6696	SPP1	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
6696	SPP1	HP:0005421	Decreased circulating complement C3 concentration	HP:0040281	ORPHA:93552
6696	SPP1	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
6696	SPP1	HP:0001824	Weight loss	HP:0040281	ORPHA:536
6696	SPP1	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:93552
6696	SPP1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:93552
6696	SPP1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
6696	SPP1	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
6696	SPP1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
6696	SPP1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:93552
6697	SPR	HP:6000563	Reduced sepiapterin reductase activity in cultured fibroblasts	9/9	OMIM:612716
6697	SPR	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6697	SPR	HP:0001293	Cranial nerve compression	-	OMIM:131300
6697	SPR	HP:0001270	Motor delay	HP:0040282	ORPHA:70594
6697	SPR	HP:0001250	Seizure	HP:0040283	ORPHA:70594
6697	SPR	HP:0001250	Seizure	-	OMIM:612716
6697	SPR	HP:0001252	Hypotonia	2/7	OMIM:615777
6697	SPR	HP:0001251	Ataxia	1/2	OMIM:612716
6697	SPR	HP:0001249	Intellectual disability	HP:0040282	ORPHA:70594
6697	SPR	HP:0001249	Intellectual disability	-	OMIM:612716
6697	SPR	HP:0001249	Intellectual disability	5/7	OMIM:615777
6697	SPR	HP:0001266	Choreoathetosis	-	OMIM:612716
6697	SPR	HP:0001260	Dysarthria	-	OMIM:612716
6697	SPR	HP:0001263	Global developmental delay	2/2	OMIM:612716
6697	SPR	HP:0001263	Global developmental delay	-	OMIM:615777
6697	SPR	HP:0001257	Spasticity	2/2	OMIM:612716
6697	SPR	HP:0002515	Waddling gait	54/102	OMIM:131300
6697	SPR	HP:0002509	Limb hypertonia	HP:0040282	ORPHA:70594
6697	SPR	HP:0001382	Joint hypermobility	-	OMIM:615777
6697	SPR	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:70594
6697	SPR	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6697	SPR	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6697	SPR	HP:0001332	Dystonia	1/2	OMIM:612716
6697	SPR	HP:0001332	Dystonia	HP:0040282	ORPHA:70594
6697	SPR	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6697	SPR	HP:0001324	Muscle weakness	40/96	OMIM:131300
6697	SPR	HP:0001324	Muscle weakness	HP:0040282	ORPHA:70594
6697	SPR	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6697	SPR	HP:0000007	Autosomal recessive inheritance	-	OMIM:612716
6697	SPR	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6697	SPR	HP:0001337	Tremor	1/2	OMIM:612716
6697	SPR	HP:0001337	Tremor	HP:0040282	ORPHA:70594
6697	SPR	HP:0000006	Autosomal dominant inheritance	-	OMIM:612716
6697	SPR	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6697	SPR	HP:0002650	Scoliosis	12/14	OMIM:131300
6697	SPR	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6697	SPR	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6697	SPR	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6697	SPR	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6697	SPR	HP:0000175	Cleft palate	2/7	OMIM:615777
6697	SPR	HP:0008936	Axial hypotonia	-	OMIM:612716
6697	SPR	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:70594
6697	SPR	HP:0005968	Temperature instability	HP:0040282	ORPHA:70594
6697	SPR	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:70594
6697	SPR	HP:0002067	Bradykinesia	HP:0040282	ORPHA:70594
6697	SPR	HP:0002063	Rigidity	HP:0040282	ORPHA:70594
6697	SPR	HP:0003388	Easy fatigability	36/76	OMIM:131300
6697	SPR	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6697	SPR	HP:0010553	Oculogyric crisis	1/2	OMIM:612716
6697	SPR	HP:0010553	Oculogyric crisis	HP:0040282	ORPHA:70594
6697	SPR	HP:0008297	Transient hyperphenylalaninemia	-	OMIM:612716
6697	SPR	HP:0003593	Infantile onset	-	OMIM:612716
6697	SPR	HP:0003510	Severe short stature	7/7	OMIM:615777
6697	SPR	HP:0002360	Sleep abnormality	-	OMIM:612716
6697	SPR	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:70594
6697	SPR	HP:0002359	Frequent falls	1/2	OMIM:612716
6697	SPR	HP:0002315	Headache	-	OMIM:131300
6697	SPR	HP:0004976	Knee dislocation	6/7	OMIM:615777
6697	SPR	HP:0002329	Drowsiness	HP:0040282	ORPHA:70594
6697	SPR	HP:0009803	Short phalanx of finger	-	OMIM:615777
6697	SPR	HP:0009763	Limb pain	63/92	OMIM:131300
6697	SPR	HP:0003621	Juvenile onset	-	OMIM:131300
6697	SPR	HP:0004923	Hyperphenylalaninemia	0/2	OMIM:612716
6697	SPR	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6697	SPR	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6697	SPR	HP:6001056	Out-toeing	-	OMIM:131300
6697	SPR	HP:0000651	Diplopia	-	OMIM:131300
6697	SPR	HP:0001956	Truncal obesity	2/7	OMIM:615777
6697	SPR	HP:0001903	Anemia	HP:0040283	OMIM:131300
6697	SPR	HP:0010049	Short metacarpal	-	OMIM:615777
6697	SPR	HP:0000678	Dental crowding	-	OMIM:615777
6697	SPR	HP:0000657	Oculomotor apraxia	-	OMIM:612716
6697	SPR	HP:0000670	Carious teeth	-	OMIM:131300
6697	SPR	HP:0011304	Broad thumb	2/7	OMIM:615777
6697	SPR	HP:0000668	Hypodontia	-	OMIM:615777
6697	SPR	HP:0000664	Synophrys	-	OMIM:615777
6697	SPR	HP:0004396	Poor appetite	-	OMIM:131300
6697	SPR	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6697	SPR	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6697	SPR	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6697	SPR	HP:0003026	Short long bone	7/7	OMIM:615777
6697	SPR	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6697	SPR	HP:0000752	Hyperactivity	-	OMIM:612716
6697	SPR	HP:0100021	Cerebral palsy	HP:0040283	ORPHA:70594
6697	SPR	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6697	SPR	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6697	SPR	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6697	SPR	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:70594
6697	SPR	HP:0000750	Delayed speech and language development	-	OMIM:615777
6697	SPR	HP:0000716	Depression	1/2	OMIM:612716
6697	SPR	HP:0000718	Aggressive behavior	1/2	OMIM:612716
6697	SPR	HP:0000708	Atypical behavior	HP:0040282	ORPHA:70594
6697	SPR	HP:0011461	Fetal onset	7/7	OMIM:615777
6697	SPR	HP:0000774	Narrow chest	2/7	OMIM:615777
6697	SPR	HP:0000926	Platyspondyly	1/7	OMIM:615777
6697	SPR	HP:0003180	Flat acetabular roof	-	OMIM:615777
6697	SPR	HP:0004482	Relative macrocephaly	-	OMIM:615777
6697	SPR	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6697	SPR	HP:0000823	Delayed puberty	-	OMIM:131300
6697	SPR	HP:0000894	Short clavicles	-	OMIM:615777
6697	SPR	HP:0040206	Abnormal circulating neopterin concentration	0/2	OMIM:612716
6697	SPR	HP:0040210	Abnormal circulating biopterin concentration	0/2	OMIM:612716
6697	SPR	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6697	SPR	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:70594
6697	SPR	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6697	SPR	HP:0000286	Epicanthus	1/7	OMIM:615777
6697	SPR	HP:0000280	Coarse facial features	2/7	OMIM:615777
6697	SPR	HP:0002827	Hip dislocation	3/7	OMIM:615777
6697	SPR	HP:0000252	Microcephaly	HP:0040283	ORPHA:70594
6697	SPR	HP:0000252	Microcephaly	1/2	OMIM:612716
6697	SPR	HP:0000252	Microcephaly	-	OMIM:615777
6697	SPR	HP:0002857	Genu valgum	-	OMIM:131300
6697	SPR	HP:0001533	Slender build	-	OMIM:131300
6697	SPR	HP:0001518	Small for gestational age	HP:0040283	ORPHA:70594
6697	SPR	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6697	SPR	HP:0001510	Growth delay	1/2	OMIM:612716
6697	SPR	HP:0001510	Growth delay	HP:0040283	ORPHA:70594
6697	SPR	HP:0007807	Optic nerve compression	-	OMIM:131300
6697	SPR	HP:0012368	Flat face	7/7	OMIM:615777
6697	SPR	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6697	SPR	HP:0000365	Hearing impairment	10/67	OMIM:131300
6697	SPR	HP:0000366	Abnormality of the nose	HP:0040282	ORPHA:70594
6697	SPR	HP:0000343	Long philtrum	1/7	OMIM:615777
6697	SPR	HP:0011001	Increased bone mineral density	-	OMIM:131300
6697	SPR	HP:0000338	Hypomimic face	HP:0040282	ORPHA:70594
6697	SPR	HP:0000311	Round face	2/7	OMIM:615777
6697	SPR	HP:0002970	Genu varum	-	OMIM:615777
6697	SPR	HP:0000303	Mandibular prognathia	-	OMIM:131300
6697	SPR	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6697	SPR	HP:0000470	Short neck	1/7	OMIM:615777
6697	SPR	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6697	SPR	HP:0001763	Pes planus	1/7	OMIM:615777
6697	SPR	HP:0001840	Metatarsus adductus	-	OMIM:615777
6697	SPR	HP:0000520	Proptosis	2/4	OMIM:131300
6697	SPR	HP:0000520	Proptosis	7/7	OMIM:615777
6697	SPR	HP:0000508	Ptosis	HP:0040282	ORPHA:70594
6697	SPR	HP:0000592	Blue sclerae	2/7	OMIM:615777
6697	SPR	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6697	SPR	HP:0012514	Lower limb pain	4/4	OMIM:131300
6708	SPTA1	HP:0025143	Chills	HP:0040283	ORPHA:822
6708	SPTA1	HP:0025143	Chills	HP:0040284	ORPHA:288
6708	SPTA1	HP:0001251	Ataxia	HP:0040283	ORPHA:822
6708	SPTA1	HP:0008897	Postnatal growth retardation	HP:0040284	ORPHA:288
6708	SPTA1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:822
6708	SPTA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:270970
6708	SPTA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:266140
6708	SPTA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:130600
6708	SPTA1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:822
6708	SPTA1	HP:0002027	Abdominal pain	HP:0040284	ORPHA:288
6708	SPTA1	HP:0003326	Myalgia	HP:0040283	ORPHA:822
6708	SPTA1	HP:0002007	Frontal bossing	HP:0040284	ORPHA:288
6708	SPTA1	HP:0011900	Hypofibrinogenemia	HP:0040282	ORPHA:822
6708	SPTA1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:822
6708	SPTA1	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:288
6708	SPTA1	HP:0100724	Hypercoagulability	HP:0040282	ORPHA:822
6708	SPTA1	HP:0004839	Pyropoikilocytosis	-	OMIM:266140
6708	SPTA1	HP:0004835	Microspherocytosis	-	OMIM:266140
6708	SPTA1	HP:0004804	Congenital hemolytic anemia	HP:0040283	ORPHA:288
6708	SPTA1	HP:0200042	Skin ulcer	HP:0040284	ORPHA:822
6708	SPTA1	HP:0200042	Skin ulcer	HP:0040283	ORPHA:288
6708	SPTA1	HP:0001081	Cholelithiasis	HP:0040282	ORPHA:822
6708	SPTA1	HP:0001081	Cholelithiasis	HP:0040284	ORPHA:288
6708	SPTA1	HP:0005525	Spontaneous hemolytic crises	HP:0040282	ORPHA:822
6708	SPTA1	HP:0005502	Increased red cell osmotic fragility	HP:0040282	ORPHA:288
6708	SPTA1	HP:0005502	Increased red cell osmotic fragility	HP:0040281	ORPHA:822
6708	SPTA1	HP:0001978	Extramedullary hematopoiesis	HP:0040283	ORPHA:822
6708	SPTA1	HP:0001945	Fever	HP:0040284	ORPHA:288
6708	SPTA1	HP:0001945	Fever	HP:0040283	ORPHA:822
6708	SPTA1	HP:0001923	Reticulocytosis	HP:0040282	ORPHA:822
6708	SPTA1	HP:0001923	Reticulocytosis	-	OMIM:130600
6708	SPTA1	HP:0001923	Reticulocytosis	HP:0040283	ORPHA:288
6708	SPTA1	HP:0001903	Anemia	HP:0040282	ORPHA:822
6708	SPTA1	HP:0001997	Gout	HP:0040284	ORPHA:822
6708	SPTA1	HP:0004446	Stomatocytosis	HP:0040283	ORPHA:288
6708	SPTA1	HP:0004445	Elliptocytosis	HP:0040282	ORPHA:288
6708	SPTA1	HP:0004445	Elliptocytosis	-	OMIM:266140
6708	SPTA1	HP:0004445	Elliptocytosis	-	OMIM:130600
6708	SPTA1	HP:0004444	Spherocytosis	HP:0040282	ORPHA:822
6708	SPTA1	HP:0004444	Spherocytosis	-	OMIM:270970
6708	SPTA1	HP:0004447	Poikilocytosis	HP:0040283	ORPHA:288
6708	SPTA1	HP:0003270	Abdominal distention	HP:0040284	ORPHA:822
6708	SPTA1	HP:0003265	Neonatal hyperbilirubinemia	HP:0040283	ORPHA:288
6708	SPTA1	HP:0003265	Neonatal hyperbilirubinemia	-	OMIM:130600
6708	SPTA1	HP:0000980	Pallor	HP:0040282	ORPHA:822
6708	SPTA1	HP:0000952	Jaundice	HP:0040282	ORPHA:822
6708	SPTA1	HP:0000952	Jaundice	HP:0040283	ORPHA:288
6708	SPTA1	HP:0040186	Maculopapular exanthema	HP:0040283	ORPHA:822
6708	SPTA1	HP:0025548	Increased mean corpuscular hemoglobin concentration	HP:0040282	ORPHA:822
6708	SPTA1	HP:0001510	Growth delay	HP:0040284	ORPHA:822
6708	SPTA1	HP:0012378	Fatigue	HP:0040283	ORPHA:288
6708	SPTA1	HP:0006579	Prolonged neonatal jaundice	HP:0040283	ORPHA:288
6708	SPTA1	HP:0002904	Hyperbilirubinemia	HP:0040282	ORPHA:822
6708	SPTA1	HP:0002904	Hyperbilirubinemia	HP:0040283	ORPHA:288
6708	SPTA1	HP:0001723	Restrictive cardiomyopathy	HP:0040283	ORPHA:822
6708	SPTA1	HP:0001789	Hydrops fetalis	HP:0040284	ORPHA:288
6708	SPTA1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:288
6708	SPTA1	HP:0001744	Splenomegaly	HP:0040282	ORPHA:822
6708	SPTA1	HP:0001878	Hemolytic anemia	-	OMIM:130600
6708	SPTA1	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:288
6708	SPTA1	HP:0001878	Hemolytic anemia	-	OMIM:266140
6708	SPTA1	HP:0001878	Hemolytic anemia	-	OMIM:270970
6708	SPTA1	HP:0001877	Abnormal erythrocyte morphology	HP:0040280	ORPHA:288
6709	SPTAN1	HP:0002495	Impaired vibratory sensation	3/3	OMIM:620528
6709	SPTAN1	HP:0002495	Impaired vibratory sensation	1/1	OMIM:620538
6709	SPTAN1	HP:0002460	Distal muscle weakness	1/1	OMIM:620528
6709	SPTAN1	HP:0001138	Optic neuropathy	2/2	OMIM:620538
6709	SPTAN1	HP:0007256	Abnormal pyramidal sign	19/22	OMIM:620538
6709	SPTAN1	HP:0010864	Intellectual disability, severe	-	OMIM:613477
6709	SPTAN1	HP:0001290	Generalized hypotonia	-	OMIM:613477
6709	SPTAN1	HP:0100807	Long fingers	1/1	OMIM:620528
6709	SPTAN1	HP:0001272	Cerebellar atrophy	0/3	OMIM:620538
6709	SPTAN1	HP:0001272	Cerebellar atrophy	5/13	OMIM:620540
6709	SPTAN1	HP:0001272	Cerebellar atrophy	2/3	OMIM:613477
6709	SPTAN1	HP:0001270	Motor delay	1/1	OMIM:620528
6709	SPTAN1	HP:0001270	Motor delay	10/16	OMIM:620540
6709	SPTAN1	HP:0001288	Gait disturbance	2/2	OMIM:620528
6709	SPTAN1	HP:0001288	Gait disturbance	15/15	OMIM:620538
6709	SPTAN1	HP:0001250	Seizure	3/3	OMIM:613477
6709	SPTAN1	HP:0001250	Seizure	4/28	OMIM:620538
6709	SPTAN1	HP:0001250	Seizure	1/1	OMIM:620540
6709	SPTAN1	HP:0001252	Hypotonia	-	OMIM:613477
6709	SPTAN1	HP:0001252	Hypotonia	1/1	OMIM:620528
6709	SPTAN1	HP:0001252	Hypotonia	3/21	OMIM:620540
6709	SPTAN1	HP:0001251	Ataxia	14/28	OMIM:620538
6709	SPTAN1	HP:0001251	Ataxia	5/21	OMIM:620540
6709	SPTAN1	HP:0001249	Intellectual disability	5/28	OMIM:620538
6709	SPTAN1	HP:0001249	Intellectual disability	15/20	OMIM:620540
6709	SPTAN1	HP:0001260	Dysarthria	1/22	OMIM:620538
6709	SPTAN1	HP:0001258	Spastic paraplegia	21/28	OMIM:620538
6709	SPTAN1	HP:0001257	Spasticity	0/13	OMIM:620540
6709	SPTAN1	HP:0007366	Atrophy/Degeneration affecting the brainstem	1/3	OMIM:613477
6709	SPTAN1	HP:0007359	Focal-onset seizure	1/1	OMIM:620540
6709	SPTAN1	HP:0007340	Lower limb muscle weakness	2/15	OMIM:620540
6709	SPTAN1	HP:0007340	Lower limb muscle weakness	16/21	OMIM:620538
6709	SPTAN1	HP:0002521	Hypsarrhythmia	HP:0040281	ORPHA:697160
6709	SPTAN1	HP:0002521	Hypsarrhythmia	2/3	OMIM:613477
6709	SPTAN1	HP:0002522	Areflexia of lower limbs	3/7	OMIM:620528
6709	SPTAN1	HP:0002510	Spastic tetraplegia	3/3	OMIM:613477
6709	SPTAN1	HP:0002505	Loss of ambulation	1/1	OMIM:620528
6709	SPTAN1	HP:0000098	Tall stature	1/1	OMIM:620528
6709	SPTAN1	HP:0012046	Areflexia of upper limbs	1/1	OMIM:620528
6709	SPTAN1	HP:0001382	Joint hypermobility	1/1	OMIM:620528
6709	SPTAN1	HP:0001382	Joint hypermobility	1/1	OMIM:620538
6709	SPTAN1	HP:0012015	EEG with frontal focal spikes	2/9	OMIM:620540
6709	SPTAN1	HP:0001347	Hyperreflexia	-	OMIM:613477
6709	SPTAN1	HP:0001332	Dystonia	2/28	OMIM:620538
6709	SPTAN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613477
6709	SPTAN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620528
6709	SPTAN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620538
6709	SPTAN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620540
6709	SPTAN1	HP:0001336	Myoclonus	1/1	OMIM:620538
6709	SPTAN1	HP:0001336	Myoclonus	HP:0040281	ORPHA:697160
6709	SPTAN1	HP:0033748	Hypoesthesia	1/1	OMIM:620528
6709	SPTAN1	HP:0002650	Scoliosis	1/1	OMIM:620538
6709	SPTAN1	HP:0002600	Hyporeflexia of lower limbs	5/5	OMIM:620528
6709	SPTAN1	HP:0000189	Narrow palate	1/1	OMIM:620528
6709	SPTAN1	HP:0008994	Proximal muscle weakness in lower limbs	3/22	OMIM:620538
6709	SPTAN1	HP:0008944	Distal lower limb amyotrophy	8/8	OMIM:620528
6709	SPTAN1	HP:0025406	Asthenia	1/1	OMIM:620528
6709	SPTAN1	HP:0002020	Gastroesophageal reflux	2/3	OMIM:613477
6709	SPTAN1	HP:0002069	Bilateral tonic-clonic seizure	1/21	OMIM:620540
6709	SPTAN1	HP:0002064	Spastic gait	1/5	OMIM:620540
6709	SPTAN1	HP:0002064	Spastic gait	5/5	OMIM:620538
6709	SPTAN1	HP:0002079	Hypoplasia of the corpus callosum	2/3	OMIM:613477
6709	SPTAN1	HP:0003376	Steppage gait	5/5	OMIM:620528
6709	SPTAN1	HP:0002059	Cerebral atrophy	-	OMIM:613477
6709	SPTAN1	HP:0003477	Peripheral axonal neuropathy	3/3	OMIM:620528
6709	SPTAN1	HP:0003477	Peripheral axonal neuropathy	4/27	OMIM:620538
6709	SPTAN1	HP:0003487	Babinski sign	1/1	OMIM:620528
6709	SPTAN1	HP:0003487	Babinski sign	2/2	OMIM:620538
6709	SPTAN1	HP:0003484	Upper limb muscle weakness	2/2	OMIM:620528
6709	SPTAN1	HP:0003484	Upper limb muscle weakness	4/5	OMIM:620538
6709	SPTAN1	HP:0002120	Cerebral cortical atrophy	2/3	OMIM:613477
6709	SPTAN1	HP:0002121	Generalized non-motor (absence) seizure	2/21	OMIM:620540
6709	SPTAN1	HP:0002136	Broad-based gait	1/1	OMIM:620528
6709	SPTAN1	HP:0003429	CNS hypomyelination	-	OMIM:613477
6709	SPTAN1	HP:0002187	Intellectual disability, profound	3/3	OMIM:613477
6709	SPTAN1	HP:0010522	Dyslexia	1/1	OMIM:620528
6709	SPTAN1	HP:0003593	Infantile onset	3/3	OMIM:613477
6709	SPTAN1	HP:0003593	Infantile onset	5/14	OMIM:620540
6709	SPTAN1	HP:0003577	Congenital onset	4/22	OMIM:620538
6709	SPTAN1	HP:0003577	Congenital onset	1/14	OMIM:620540
6709	SPTAN1	HP:0003551	Difficulty climbing stairs	1/1	OMIM:620528
6709	SPTAN1	HP:0200134	Epileptic encephalopathy	-	OMIM:613477
6709	SPTAN1	HP:0007018	Attention deficit hyperactivity disorder	3/21	OMIM:620540
6709	SPTAN1	HP:0007002	Motor axonal neuropathy	9/9	OMIM:620528
6709	SPTAN1	HP:0033383	Decreased compound muscle action potential amplitude	1/1	OMIM:620528
6709	SPTAN1	HP:0007083	Hyperactive patellar reflex	1/1	OMIM:620528
6709	SPTAN1	HP:0002384	Focal impaired awareness seizure	1/21	OMIM:620540
6709	SPTAN1	HP:0002395	Lower limb hyperreflexia	1/21	OMIM:620540
6709	SPTAN1	HP:0002392	EEG with polyspike wave complexes	2/9	OMIM:620540
6709	SPTAN1	HP:0002359	Frequent falls	1/1	OMIM:620528
6709	SPTAN1	HP:0002376	Developmental regression	HP:0040281	ORPHA:697160
6709	SPTAN1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	4/21	OMIM:620540
6709	SPTAN1	HP:0002317	Unsteady gait	2/2	OMIM:620528
6709	SPTAN1	HP:0010841	Multifocal epileptiform discharges	2/9	OMIM:620540
6709	SPTAN1	HP:0010819	Atonic seizure	1/21	OMIM:620540
6709	SPTAN1	HP:0009830	Peripheral neuropathy	1/1	OMIM:620528
6709	SPTAN1	HP:0007166	Paroxysmal dyskinesia	1/1	OMIM:620538
6709	SPTAN1	HP:0002312	Clumsiness	1/1	OMIM:620528
6709	SPTAN1	HP:0003621	Juvenile onset	6/13	OMIM:620528
6709	SPTAN1	HP:0003621	Juvenile onset	15/25	OMIM:620538
6709	SPTAN1	HP:0006895	Lower limb hypertonia	1/21	OMIM:620540
6709	SPTAN1	HP:0000639	Nystagmus	1/1	OMIM:620538
6709	SPTAN1	HP:0000639	Nystagmus	2/16	OMIM:620540
6709	SPTAN1	HP:0009053	Distal lower limb muscle weakness	11/11	OMIM:620528
6709	SPTAN1	HP:0009053	Distal lower limb muscle weakness	9/22	OMIM:620538
6709	SPTAN1	HP:0009027	Foot dorsiflexor weakness	4/4	OMIM:620528
6709	SPTAN1	HP:0000768	Pectus carinatum	1/1	OMIM:620528
6709	SPTAN1	HP:0000750	Delayed speech and language development	1/1	OMIM:620528
6709	SPTAN1	HP:0000750	Delayed speech and language development	13/15	OMIM:620540
6709	SPTAN1	HP:0000729	Autistic behavior	2/5	OMIM:620540
6709	SPTAN1	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:697160
6709	SPTAN1	HP:0011463	Childhood onset	3/11	OMIM:620528
6709	SPTAN1	HP:0011463	Childhood onset	4/22	OMIM:620538
6709	SPTAN1	HP:0011463	Childhood onset	12/18	OMIM:620540
6709	SPTAN1	HP:0011462	Young adult onset	4/11	OMIM:620528
6709	SPTAN1	HP:0011462	Young adult onset	2/22	OMIM:620538
6709	SPTAN1	HP:0009129	Upper limb amyotrophy	2/2	OMIM:620528
6709	SPTAN1	HP:0034295	Reduced cerebral white matter volume	3/3	OMIM:613477
6709	SPTAN1	HP:0003236	Elevated circulating creatine kinase concentration	0/1	OMIM:620528
6709	SPTAN1	HP:0003202	Skeletal muscle atrophy	3/5	OMIM:620538
6709	SPTAN1	HP:0034337	Claw hand deformity	1/1	OMIM:620528
6709	SPTAN1	HP:0000253	Progressive microcephaly	3/3	OMIM:613477
6709	SPTAN1	HP:0000252	Microcephaly	3/3	OMIM:613477
6709	SPTAN1	HP:0000252	Microcephaly	0/28	OMIM:620538
6709	SPTAN1	HP:0000252	Microcephaly	4/20	OMIM:620540
6709	SPTAN1	HP:0000218	High palate	1/1	OMIM:620528
6709	SPTAN1	HP:0012391	Hyporeflexia of upper limbs	3/12	OMIM:620528
6709	SPTAN1	HP:0032794	Myoclonic seizure	4/21	OMIM:620540
6709	SPTAN1	HP:0000486	Strabismus	3/16	OMIM:620540
6709	SPTAN1	HP:0012469	Infantile spasms	HP:0040281	ORPHA:697160
6709	SPTAN1	HP:0012469	Infantile spasms	1/21	OMIM:620540
6709	SPTAN1	HP:0012452	Restless legs	1/1	OMIM:620528
6709	SPTAN1	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:697160
6709	SPTAN1	HP:0001771	Achilles tendon contracture	2/2	OMIM:620528
6709	SPTAN1	HP:0001763	Pes planus	2/2	OMIM:620528
6709	SPTAN1	HP:0001765	Hammertoe	5/5	OMIM:620528
6709	SPTAN1	HP:0001761	Pes cavus	3/3	OMIM:620528
6709	SPTAN1	HP:0001761	Pes cavus	6/28	OMIM:620538
6709	SPTAN1	HP:0001822	Hallux valgus	3/3	OMIM:620528
6710	SPTB	HP:0025143	Chills	HP:0040283	ORPHA:822
6710	SPTB	HP:0025143	Chills	HP:0040284	ORPHA:288
6710	SPTB	HP:0001251	Ataxia	HP:0040283	ORPHA:822
6710	SPTB	HP:0008897	Postnatal growth retardation	HP:0040284	ORPHA:288
6710	SPTB	HP:0001324	Muscle weakness	HP:0040282	ORPHA:822
6710	SPTB	HP:0000006	Autosomal dominant inheritance	-	OMIM:617948
6710	SPTB	HP:0000006	Autosomal dominant inheritance	-	OMIM:616649
6710	SPTB	HP:0002027	Abdominal pain	HP:0040283	ORPHA:822
6710	SPTB	HP:0002027	Abdominal pain	HP:0040284	ORPHA:288
6710	SPTB	HP:0003326	Myalgia	HP:0040283	ORPHA:822
6710	SPTB	HP:0002007	Frontal bossing	HP:0040284	ORPHA:288
6710	SPTB	HP:0011900	Hypofibrinogenemia	HP:0040282	ORPHA:822
6710	SPTB	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:822
6710	SPTB	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:288
6710	SPTB	HP:0004870	Chronic hemolytic anemia	-	OMIM:617948
6710	SPTB	HP:0100724	Hypercoagulability	HP:0040282	ORPHA:822
6710	SPTB	HP:0004839	Pyropoikilocytosis	-	OMIM:617948
6710	SPTB	HP:0004804	Congenital hemolytic anemia	HP:0040283	ORPHA:288
6710	SPTB	HP:0001046	Intermittent jaundice	-	OMIM:617948
6710	SPTB	HP:0025066	Decreased mean corpuscular volume	1/3	OMIM:617948
6710	SPTB	HP:0200042	Skin ulcer	HP:0040284	ORPHA:822
6710	SPTB	HP:0200042	Skin ulcer	HP:0040283	ORPHA:288
6710	SPTB	HP:0001081	Cholelithiasis	HP:0040282	ORPHA:822
6710	SPTB	HP:0001081	Cholelithiasis	HP:0040284	ORPHA:288
6710	SPTB	HP:0005525	Spontaneous hemolytic crises	HP:0040282	ORPHA:822
6710	SPTB	HP:0005502	Increased red cell osmotic fragility	HP:0040282	ORPHA:288
6710	SPTB	HP:0005502	Increased red cell osmotic fragility	1/1	OMIM:616649
6710	SPTB	HP:0005502	Increased red cell osmotic fragility	HP:0040281	ORPHA:822
6710	SPTB	HP:0001978	Extramedullary hematopoiesis	HP:0040283	ORPHA:822
6710	SPTB	HP:0001945	Fever	HP:0040284	ORPHA:288
6710	SPTB	HP:0001945	Fever	HP:0040283	ORPHA:822
6710	SPTB	HP:0001927	Acanthocytosis	3/3	OMIM:616649
6710	SPTB	HP:0001923	Reticulocytosis	12/12	OMIM:616649
6710	SPTB	HP:0001923	Reticulocytosis	HP:0040282	ORPHA:822
6710	SPTB	HP:0001923	Reticulocytosis	HP:0040283	ORPHA:288
6710	SPTB	HP:0001903	Anemia	HP:0040282	ORPHA:822
6710	SPTB	HP:0001997	Gout	HP:0040284	ORPHA:822
6710	SPTB	HP:0004446	Stomatocytosis	HP:0040283	ORPHA:288
6710	SPTB	HP:0004445	Elliptocytosis	HP:0040282	ORPHA:288
6710	SPTB	HP:0004445	Elliptocytosis	3/3	OMIM:617948
6710	SPTB	HP:0004444	Spherocytosis	5/5	OMIM:616649
6710	SPTB	HP:0004444	Spherocytosis	HP:0040282	ORPHA:822
6710	SPTB	HP:0004447	Poikilocytosis	HP:0040283	ORPHA:288
6710	SPTB	HP:0003270	Abdominal distention	HP:0040284	ORPHA:822
6710	SPTB	HP:0003265	Neonatal hyperbilirubinemia	HP:0040283	ORPHA:288
6710	SPTB	HP:0000980	Pallor	HP:0040282	ORPHA:822
6710	SPTB	HP:0000952	Jaundice	HP:0040282	ORPHA:822
6710	SPTB	HP:0000952	Jaundice	HP:0040283	ORPHA:288
6710	SPTB	HP:0000952	Jaundice	2/2	OMIM:616649
6710	SPTB	HP:0040186	Maculopapular exanthema	HP:0040283	ORPHA:822
6710	SPTB	HP:0025548	Increased mean corpuscular hemoglobin concentration	HP:0040282	ORPHA:822
6710	SPTB	HP:0001510	Growth delay	HP:0040284	ORPHA:822
6710	SPTB	HP:0012378	Fatigue	HP:0040283	ORPHA:288
6710	SPTB	HP:0006579	Prolonged neonatal jaundice	HP:0040283	ORPHA:288
6710	SPTB	HP:0002904	Hyperbilirubinemia	2/2	OMIM:616649
6710	SPTB	HP:0002904	Hyperbilirubinemia	HP:0040282	ORPHA:822
6710	SPTB	HP:0002904	Hyperbilirubinemia	HP:0040283	ORPHA:288
6710	SPTB	HP:0001723	Restrictive cardiomyopathy	HP:0040283	ORPHA:822
6710	SPTB	HP:0001789	Hydrops fetalis	HP:0040284	ORPHA:288
6710	SPTB	HP:0001744	Splenomegaly	HP:0040283	ORPHA:288
6710	SPTB	HP:0001744	Splenomegaly	HP:0040282	ORPHA:822
6710	SPTB	HP:0001744	Splenomegaly	2/2	OMIM:616649
6710	SPTB	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:288
6710	SPTB	HP:0001878	Hemolytic anemia	2/2	OMIM:616649
6710	SPTB	HP:0001877	Abnormal erythrocyte morphology	HP:0040280	ORPHA:288
6711	SPTBN1	HP:0002478	Progressive spastic quadriplegia	1/29	OMIM:619475
6711	SPTBN1	HP:0001118	Juvenile cataract	1/29	OMIM:619475
6711	SPTBN1	HP:0008619	Bilateral sensorineural hearing impairment	1/29	OMIM:619475
6711	SPTBN1	HP:0020221	Clonic seizure	2/29	OMIM:619475
6711	SPTBN1	HP:0010862	Delayed fine motor development	1/29	OMIM:619475
6711	SPTBN1	HP:0009884	Tapered distal phalanges of finger	1/29	OMIM:619475
6711	SPTBN1	HP:0002415	Leukodystrophy	1/29	OMIM:619475
6711	SPTBN1	HP:0003763	Bruxism	1/29	OMIM:619475
6711	SPTBN1	HP:0003764	Nevus	1/29	OMIM:619475
6711	SPTBN1	HP:0001276	Hypertonia	4/22	OMIM:619475
6711	SPTBN1	HP:0001271	Polyneuropathy	1/29	OMIM:619475
6711	SPTBN1	HP:0001270	Motor delay	23/27	OMIM:619475
6711	SPTBN1	HP:0002599	Head titubation	1/29	OMIM:619475
6711	SPTBN1	HP:0025232	Bursitis	1/29	OMIM:619475
6711	SPTBN1	HP:0001250	Seizure	9/24	OMIM:619475
6711	SPTBN1	HP:0001252	Hypotonia	8/22	OMIM:619475
6711	SPTBN1	HP:0001251	Ataxia	1/29	OMIM:619475
6711	SPTBN1	HP:0001249	Intellectual disability	21/24	OMIM:619475
6711	SPTBN1	HP:0001264	Spastic diplegia	1/29	OMIM:619475
6711	SPTBN1	HP:0001263	Global developmental delay	28/28	OMIM:619475
6711	SPTBN1	HP:0001257	Spasticity	1/29	OMIM:619475
6711	SPTBN1	HP:0008760	Violent behavior	1/29	OMIM:619475
6711	SPTBN1	HP:0008762	Repetitive compulsive behavior	1/29	OMIM:619475
6711	SPTBN1	HP:0008751	Laryngeal cleft	1/29	OMIM:619475
6711	SPTBN1	HP:0007359	Focal-onset seizure	1/29	OMIM:619475
6711	SPTBN1	HP:0002521	Hypsarrhythmia	1/29	OMIM:619475
6711	SPTBN1	HP:0002527	Falls	6/29	OMIM:619475
6711	SPTBN1	HP:0002510	Spastic tetraplegia	1/29	OMIM:619475
6711	SPTBN1	HP:0025386	Bitemporal hollowing	1/29	OMIM:619475
6711	SPTBN1	HP:0001397	Hepatic steatosis	1/29	OMIM:619475
6711	SPTBN1	HP:0000054	Micropenis	1/29	OMIM:619475
6711	SPTBN1	HP:0001382	Joint hypermobility	1/29	OMIM:619475
6711	SPTBN1	HP:0000048	Bifid scrotum	1/29	OMIM:619475
6711	SPTBN1	HP:0000047	Hypospadias	1/29	OMIM:619475
6711	SPTBN1	HP:0001348	Brisk reflexes	1/29	OMIM:619475
6711	SPTBN1	HP:0001357	Plagiocephaly	2/29	OMIM:619475
6711	SPTBN1	HP:0001332	Dystonia	2/29	OMIM:619475
6711	SPTBN1	HP:0032408	Breast mass	1/29	OMIM:619475
6711	SPTBN1	HP:0001344	Absent speech	4/29	OMIM:619475
6711	SPTBN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619475
6711	SPTBN1	HP:0002650	Scoliosis	2/29	OMIM:619475
6711	SPTBN1	HP:0000152	Abnormality of head or neck	1/29	OMIM:619475
6711	SPTBN1	HP:0500093	Food allergy	1/29	OMIM:619475
6711	SPTBN1	HP:0410018	Recurrent ear infections	1/29	OMIM:619475
6711	SPTBN1	HP:0002705	High, narrow palate	1/29	OMIM:619475
6711	SPTBN1	HP:0002754	Osteomyelitis	2/29	OMIM:619475
6711	SPTBN1	HP:0001438	Abnormal abdomen morphology	1/29	OMIM:619475
6711	SPTBN1	HP:0002719	Recurrent infections	1/29	OMIM:619475
6711	SPTBN1	HP:0002019	Constipation	1/29	OMIM:619475
6711	SPTBN1	HP:0002033	Poor suck	1/29	OMIM:619475
6711	SPTBN1	HP:0002027	Abdominal pain	1/29	OMIM:619475
6711	SPTBN1	HP:0002013	Vomiting	2/29	OMIM:619475
6711	SPTBN1	HP:0100540	Palpebral edema	1/29	OMIM:619475
6711	SPTBN1	HP:0002080	Intention tremor	1/29	OMIM:619475
6711	SPTBN1	HP:0100543	Cognitive impairment	2/29	OMIM:619475
6711	SPTBN1	HP:0002057	Prominent glabella	1/29	OMIM:619475
6711	SPTBN1	HP:0002119	Ventriculomegaly	2/29	OMIM:619475
6711	SPTBN1	HP:0002136	Broad-based gait	1/29	OMIM:619475
6711	SPTBN1	HP:0003418	Back pain	1/29	OMIM:619475
6711	SPTBN1	HP:0002180	Neurodegeneration	1/29	OMIM:619475
6711	SPTBN1	HP:0002169	Clonus	1/29	OMIM:619475
6711	SPTBN1	HP:0002167	Abnormal speech pattern	1/29	OMIM:619475
6711	SPTBN1	HP:0010529	Echolalia	1/29	OMIM:619475
6711	SPTBN1	HP:0010522	Dyslexia	1/29	OMIM:619475
6711	SPTBN1	HP:0100710	Impulsivity	1/29	OMIM:619475
6711	SPTBN1	HP:0100767	Abnormal placenta morphology	1/29	OMIM:619475
6711	SPTBN1	HP:0010674	Abnormal curvature of the vertebral column	1/29	OMIM:619475
6711	SPTBN1	HP:0007018	Attention deficit hyperactivity disorder	12/22	OMIM:619475
6711	SPTBN1	HP:0011968	Feeding difficulties	4/29	OMIM:619475
6711	SPTBN1	HP:0001067	Neurofibroma	1/29	OMIM:619475
6711	SPTBN1	HP:0002360	Sleep abnormality	7/22	OMIM:619475
6711	SPTBN1	HP:0002376	Developmental regression	3/25	OMIM:619475
6711	SPTBN1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2/29	OMIM:619475
6711	SPTBN1	HP:0001010	Hypopigmentation of the skin	1/29	OMIM:619475
6711	SPTBN1	HP:0002353	EEG abnormality	6/14	OMIM:619475
6711	SPTBN1	HP:0001000	Abnormality of skin pigmentation	1/29	OMIM:619475
6711	SPTBN1	HP:0010841	Multifocal epileptiform discharges	1/29	OMIM:619475
6711	SPTBN1	HP:0010812	Short uvula	1/29	OMIM:619475
6711	SPTBN1	HP:0002307	Drooling	1/29	OMIM:619475
6711	SPTBN1	HP:0004944	Dilatation of the cerebral artery	1/29	OMIM:619475
6711	SPTBN1	HP:0004942	Aortic aneurysm	1/29	OMIM:619475
6711	SPTBN1	HP:0000637	Long palpebral fissure	1/29	OMIM:619475
6711	SPTBN1	HP:0000612	Iris coloboma	1/29	OMIM:619475
6711	SPTBN1	HP:0001945	Fever	2/29	OMIM:619475
6711	SPTBN1	HP:0001954	Recurrent fever	1/29	OMIM:619475
6711	SPTBN1	HP:0001999	Abnormal facial shape	1/29	OMIM:619475
6711	SPTBN1	HP:0000664	Synophrys	1/29	OMIM:619475
6711	SPTBN1	HP:0004325	Decreased body weight	1/29	OMIM:619475
6711	SPTBN1	HP:0031951	Nocturnal seizures	1/29	OMIM:619475
6711	SPTBN1	HP:0031987	Diminished ability to concentrate	1/29	OMIM:619475
6711	SPTBN1	HP:0000752	Hyperactivity	2/29	OMIM:619475
6711	SPTBN1	HP:0000771	Gynecomastia	1/29	OMIM:619475
6711	SPTBN1	HP:0100021	Cerebral palsy	1/29	OMIM:619475
6711	SPTBN1	HP:0100022	Abnormality of movement	2/29	OMIM:619475
6711	SPTBN1	HP:0100033	Tics	1/29	OMIM:619475
6711	SPTBN1	HP:0000737	Irritability	2/29	OMIM:619475
6711	SPTBN1	HP:0000739	Anxiety	3/20	OMIM:619475
6711	SPTBN1	HP:0000733	Motor stereotypy	1/29	OMIM:619475
6711	SPTBN1	HP:0000736	Short attention span	1/29	OMIM:619475
6711	SPTBN1	HP:0000750	Delayed speech and language development	26/27	OMIM:619475
6711	SPTBN1	HP:0000716	Depression	2/29	OMIM:619475
6711	SPTBN1	HP:0000718	Aggressive behavior	4/29	OMIM:619475
6711	SPTBN1	HP:0000717	Autism	4/29	OMIM:619475
6711	SPTBN1	HP:0000712	Emotional lability	8/22	OMIM:619475
6711	SPTBN1	HP:0000713	Agitation	1/29	OMIM:619475
6711	SPTBN1	HP:0000729	Autistic behavior	6/21	OMIM:619475
6711	SPTBN1	HP:0000723	Restrictive behavior	1/29	OMIM:619475
6711	SPTBN1	HP:0000722	Compulsive behaviors	3/22	OMIM:619475
6711	SPTBN1	HP:0000708	Atypical behavior	4/29	OMIM:619475
6711	SPTBN1	HP:0000707	Abnormality of the nervous system	1/29	OMIM:619475
6711	SPTBN1	HP:0000790	Hematuria	1/29	OMIM:619475
6711	SPTBN1	HP:0012760	Reduced social responsiveness	1/29	OMIM:619475
6711	SPTBN1	HP:0003196	Short nose	1/29	OMIM:619475
6711	SPTBN1	HP:0000924	Abnormality of the skeletal system	1/29	OMIM:619475
6711	SPTBN1	HP:0000817	Reduced eye contact	2/29	OMIM:619475
6711	SPTBN1	HP:0000823	Delayed puberty	1/29	OMIM:619475
6711	SPTBN1	HP:0010296	Ankyloglossia	1/29	OMIM:619475
6711	SPTBN1	HP:0000995	Melanocytic nevus	1/29	OMIM:619475
6711	SPTBN1	HP:0000954	Single transverse palmar crease	1/29	OMIM:619475
6711	SPTBN1	HP:0000952	Jaundice	2/29	OMIM:619475
6711	SPTBN1	HP:0008071	Maternal hypertension	1/29	OMIM:619475
6711	SPTBN1	HP:0000280	Coarse facial features	1/29	OMIM:619475
6711	SPTBN1	HP:0000293	Full cheeks	1/29	OMIM:619475
6711	SPTBN1	HP:0000289	Broad philtrum	1/29	OMIM:619475
6711	SPTBN1	HP:0000256	Macrocephaly	4/21	OMIM:619475
6711	SPTBN1	HP:0000268	Dolichocephaly	3/29	OMIM:619475
6711	SPTBN1	HP:0002808	Kyphosis	1/29	OMIM:619475
6711	SPTBN1	HP:0001574	Abnormality of the integument	1/29	OMIM:619475
6711	SPTBN1	HP:0000239	Large fontanelles	1/29	OMIM:619475
6711	SPTBN1	HP:0000238	Hydrocephalus	1/29	OMIM:619475
6711	SPTBN1	HP:0000252	Microcephaly	5/21	OMIM:619475
6711	SPTBN1	HP:0000219	Thin upper lip vermilion	1/29	OMIM:619475
6711	SPTBN1	HP:0000218	High palate	1/29	OMIM:619475
6711	SPTBN1	HP:0025502	Overweight	1/29	OMIM:619475
6711	SPTBN1	HP:0002857	Genu valgum	1/29	OMIM:619475
6711	SPTBN1	HP:0001508	Failure to thrive	4/29	OMIM:619475
6711	SPTBN1	HP:0030051	Tip-toe gait	1/29	OMIM:619475
6711	SPTBN1	HP:0001511	Intrauterine growth retardation	1/29	OMIM:619475
6711	SPTBN1	HP:0001513	Obesity	1/29	OMIM:619475
6711	SPTBN1	HP:0011096	Peripheral demyelination	1/29	OMIM:619475
6711	SPTBN1	HP:0012393	Allergy	3/29	OMIM:619475
6711	SPTBN1	HP:0012378	Fatigue	1/29	OMIM:619475
6711	SPTBN1	HP:0000378	Cupped ear	1/29	OMIM:619475
6711	SPTBN1	HP:0000388	Otitis media	1/29	OMIM:619475
6711	SPTBN1	HP:0001609	Hoarse voice	1/29	OMIM:619475
6711	SPTBN1	HP:0030185	Isometric tremor	1/29	OMIM:619475
6711	SPTBN1	HP:0002910	Elevated circulating hepatic transaminase concentration	1/29	OMIM:619475
6711	SPTBN1	HP:0002904	Hyperbilirubinemia	2/29	OMIM:619475
6711	SPTBN1	HP:0000365	Hearing impairment	5/25	OMIM:619475
6711	SPTBN1	HP:0000341	Narrow forehead	1/29	OMIM:619475
6711	SPTBN1	HP:0000337	Broad forehead	1/29	OMIM:619475
6711	SPTBN1	HP:0000348	High forehead	1/29	OMIM:619475
6711	SPTBN1	HP:0000319	Smooth philtrum	1/29	OMIM:619475
6711	SPTBN1	HP:0001647	Bicuspid aortic valve	1/29	OMIM:619475
6711	SPTBN1	HP:0000316	Hypertelorism	3/29	OMIM:619475
6711	SPTBN1	HP:0030148	Heart murmur	1/29	OMIM:619475
6711	SPTBN1	HP:0001659	Aortic regurgitation	1/29	OMIM:619475
6711	SPTBN1	HP:0000322	Short philtrum	1/29	OMIM:619475
6711	SPTBN1	HP:0001629	Ventricular septal defect	1/29	OMIM:619475
6711	SPTBN1	HP:0001626	Abnormality of the cardiovascular system	1/29	OMIM:619475
6711	SPTBN1	HP:0001635	Congestive heart failure	1/29	OMIM:619475
6711	SPTBN1	HP:0000307	Pointed chin	1/29	OMIM:619475
6711	SPTBN1	HP:0000300	Oval face	1/29	OMIM:619475
6711	SPTBN1	HP:0012498	Nuchal cord	1/29	OMIM:619475
6711	SPTBN1	HP:0032988	Persistent head lag	1/29	OMIM:619475
6711	SPTBN1	HP:0000486	Strabismus	1/29	OMIM:619475
6711	SPTBN1	HP:0012469	Infantile spasms	1/29	OMIM:619475
6711	SPTBN1	HP:0012471	Thick vermilion border	1/29	OMIM:619475
6711	SPTBN1	HP:0000478	Abnormality of the eye	1/29	OMIM:619475
6711	SPTBN1	HP:0000490	Deeply set eye	1/29	OMIM:619475
6711	SPTBN1	HP:0000463	Anteverted nares	1/29	OMIM:619475
6711	SPTBN1	HP:0012448	Delayed myelination	2/29	OMIM:619475
6711	SPTBN1	HP:0012446	Decreased CSF 5-methyltetrahydrofolate concentration	1/29	OMIM:619475
6711	SPTBN1	HP:0000473	Torticollis	1/29	OMIM:619475
6711	SPTBN1	HP:0031589	Suicidal ideation	1/29	OMIM:619475
6711	SPTBN1	HP:0000437	Depressed nasal tip	1/29	OMIM:619475
6711	SPTBN1	HP:0000414	Bulbous nose	2/29	OMIM:619475
6711	SPTBN1	HP:0000411	Protruding ear	1/29	OMIM:619475
6711	SPTBN1	HP:0001762	Talipes equinovarus	1/29	OMIM:619475
6711	SPTBN1	HP:0000431	Wide nasal bridge	4/29	OMIM:619475
6711	SPTBN1	HP:0000518	Cataract	1/29	OMIM:619475
6711	SPTBN1	HP:0000520	Proptosis	1/29	OMIM:619475
6711	SPTBN1	HP:0000582	Upslanted palpebral fissure	1/29	OMIM:619475
6711	SPTBN1	HP:0011229	Broad eyebrow	1/29	OMIM:619475
6711	SPTBN1	HP:0000589	Coloboma	2/29	OMIM:619475
6711	SPTBN1	HP:0000572	Visual loss	1/29	OMIM:619475
6711	SPTBN1	HP:0000574	Thick eyebrow	1/29	OMIM:619475
6711	SPTBN1	HP:0000567	Chorioretinal coloboma	1/29	OMIM:619475
6712	SPTBN2	HP:0002495	Impaired vibratory sensation	-	OMIM:600224
6712	SPTBN2	HP:0002493	Upper motor neuron dysfunction	-	OMIM:600224
6712	SPTBN2	HP:0007286	Horizontal jerk nystagmus	1/1	OMIM:600224
6712	SPTBN2	HP:0007240	Progressive gait ataxia	HP:0040282	ORPHA:352403
6712	SPTBN2	HP:0002421	Poor head control	1/1	OMIM:600224
6712	SPTBN2	HP:0001272	Cerebellar atrophy	2/3	OMIM:615386
6712	SPTBN2	HP:0001272	Cerebellar atrophy	1/1	OMIM:600224
6712	SPTBN2	HP:0001272	Cerebellar atrophy	HP:0040281	ORPHA:98766
6712	SPTBN2	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:352403
6712	SPTBN2	HP:0001270	Motor delay	3/3	OMIM:615386
6712	SPTBN2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:98766
6712	SPTBN2	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:352403
6712	SPTBN2	HP:0001252	Hypotonia	1/1	OMIM:600224
6712	SPTBN2	HP:0001251	Ataxia	1/1	OMIM:600224
6712	SPTBN2	HP:0001260	Dysarthria	1/1	OMIM:600224
6712	SPTBN2	HP:0001260	Dysarthria	HP:0040282	ORPHA:352403
6712	SPTBN2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:352403
6712	SPTBN2	HP:0001263	Global developmental delay	3/3	OMIM:615386
6712	SPTBN2	HP:0001263	Global developmental delay	1/1	OMIM:600224
6712	SPTBN2	HP:0001257	Spasticity	HP:0040283	OMIM:615386
6712	SPTBN2	HP:0001257	Spasticity	HP:0040283	ORPHA:352403
6712	SPTBN2	HP:0001350	Slurred speech	HP:0040281	ORPHA:98766
6712	SPTBN2	HP:0001350	Slurred speech	HP:0040282	ORPHA:352403
6712	SPTBN2	HP:0001347	Hyperreflexia	HP:0040283	OMIM:615386
6712	SPTBN2	HP:0001347	Hyperreflexia	1/1	OMIM:600224
6712	SPTBN2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:352403
6712	SPTBN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615386
6712	SPTBN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:600224
6712	SPTBN2	HP:0001310	Dysmetria	3/3	OMIM:615386
6712	SPTBN2	HP:0001310	Dysmetria	HP:0040282	ORPHA:352403
6712	SPTBN2	HP:0001310	Dysmetria	1/1	OMIM:600224
6712	SPTBN2	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:600224
6712	SPTBN2	HP:0002080	Intention tremor	HP:0040283	ORPHA:352403
6712	SPTBN2	HP:0002080	Intention tremor	1/1	OMIM:600224
6712	SPTBN2	HP:0002080	Intention tremor	-	OMIM:615386
6712	SPTBN2	HP:0100543	Cognitive impairment	-	OMIM:600224
6712	SPTBN2	HP:0002066	Gait ataxia	-	OMIM:615386
6712	SPTBN2	HP:0002066	Gait ataxia	-	OMIM:600224
6712	SPTBN2	HP:0002078	Truncal ataxia	HP:0040282	ORPHA:352403
6712	SPTBN2	HP:0002075	Dysdiadochokinesis	HP:0040282	ORPHA:352403
6712	SPTBN2	HP:0002075	Dysdiadochokinesis	1/1	OMIM:600224
6712	SPTBN2	HP:0002075	Dysdiadochokinesis	3/3	OMIM:615386
6712	SPTBN2	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:352403
6712	SPTBN2	HP:0002070	Limb ataxia	-	OMIM:600224
6712	SPTBN2	HP:0002136	Broad-based gait	1/1	OMIM:600224
6712	SPTBN2	HP:0003593	Infantile onset	3/3	OMIM:615386
6712	SPTBN2	HP:0003593	Infantile onset	1/1	OMIM:600224
6712	SPTBN2	HP:0003677	Slowly progressive	1/1	OMIM:600224
6712	SPTBN2	HP:0003677	Slowly progressive	-	OMIM:615386
6712	SPTBN2	HP:0002317	Unsteady gait	3/3	OMIM:615386
6712	SPTBN2	HP:0002311	Incoordination	HP:0040281	ORPHA:98766
6712	SPTBN2	HP:0002311	Incoordination	-	OMIM:600224
6712	SPTBN2	HP:0000640	Gaze-evoked nystagmus	-	OMIM:600224
6712	SPTBN2	HP:0000639	Nystagmus	3/3	OMIM:615386
6712	SPTBN2	HP:0000639	Nystagmus	HP:0040283	ORPHA:352403
6712	SPTBN2	HP:0000651	Diplopia	HP:0040283	ORPHA:352403
6712	SPTBN2	HP:0000641	Dysmetric saccades	HP:0040283	ORPHA:352403
6712	SPTBN2	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:352403
6712	SPTBN2	HP:0000750	Delayed speech and language development	3/3	OMIM:615386
6712	SPTBN2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:352403
6712	SPTBN2	HP:0011448	Ankle clonus	1/1	OMIM:600224
6712	SPTBN2	HP:0008003	Jerky ocular pursuit movements	3/3	OMIM:615386
6712	SPTBN2	HP:0008003	Jerky ocular pursuit movements	HP:0040283	ORPHA:352403
6712	SPTBN2	HP:0007772	Impaired smooth pursuit	-	OMIM:600224
6712	SPTBN2	HP:0001583	Rotary nystagmus	1/1	OMIM:600224
6712	SPTBN2	HP:0000317	Facial myokymia	1/1	OMIM:600224
6712	SPTBN2	HP:0000486	Strabismus	1/1	OMIM:600224
6712	SPTBN2	HP:0000486	Strabismus	HP:0040283	ORPHA:352403
6712	SPTBN2	HP:0000571	Hypometric saccades	3/3	OMIM:615386
6714	SRC	HP:0031020	Bone marrow hypercellularity	-	OMIM:616937
6714	SRC	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
6714	SRC	HP:0000006	Autosomal dominant inheritance	-	OMIM:616937
6714	SRC	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
6714	SRC	HP:0002003	Large forehead	-	OMIM:616937
6714	SRC	HP:0011974	Myelofibrosis	-	OMIM:616937
6714	SRC	HP:0005584	Renal cell carcinoma	-	OMIM:114500
6714	SRC	HP:0000601	Hypotelorism	-	OMIM:616937
6714	SRC	HP:0004406	Spontaneous, recurrent epistaxis	-	OMIM:616937
6714	SRC	HP:0000939	Osteoporosis	HP:0040283	OMIM:616937
6714	SRC	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
6714	SRC	HP:0000490	Deeply set eye	-	OMIM:616937
6714	SRC	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
6714	SRC	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
6714	SRC	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
6714	SRC	HP:0001892	Abnormal bleeding	-	OMIM:616937
6714	SRC	HP:0001873	Thrombocytopenia	-	OMIM:616937
6716	SRD5A2	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:753
6716	SRD5A2	HP:0032382	Uniparental disomy	-	OMIM:264600
6716	SRD5A2	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:753
6716	SRD5A2	HP:0000046	Small scrotum	HP:0040281	ORPHA:753
6716	SRD5A2	HP:0000054	Micropenis	-	OMIM:264600
6716	SRD5A2	HP:0000051	Perineal hypospadias	-	OMIM:264600
6716	SRD5A2	HP:0000051	Perineal hypospadias	HP:0040281	ORPHA:753
6716	SRD5A2	HP:0000048	Bifid scrotum	-	OMIM:264600
6716	SRD5A2	HP:0000048	Bifid scrotum	HP:0040281	ORPHA:753
6716	SRD5A2	HP:0000033	Ambiguous genitalia, male	-	OMIM:264600
6716	SRD5A2	HP:0000033	Ambiguous genitalia, male	HP:0040281	ORPHA:753
6716	SRD5A2	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:753
6716	SRD5A2	HP:0000028	Cryptorchidism	-	OMIM:264600
6716	SRD5A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:264600
6716	SRD5A2	HP:0000144	Decreased fertility	HP:0040281	ORPHA:753
6716	SRD5A2	HP:0100779	Urogenital sinus anomaly	HP:0040281	ORPHA:753
6716	SRD5A2	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:264600
6716	SRD5A2	HP:0000818	Abnormality of the endocrine system	-	OMIM:264600
6716	SRD5A2	HP:0000818	Abnormality of the endocrine system	HP:0040281	ORPHA:753
6716	SRD5A2	HP:0001595	Abnormal hair morphology	-	OMIM:264600
6716	SRD5A2	HP:0001608	Abnormality of the voice	-	OMIM:264600
6718	AKR1D1	HP:0002570	Steatorrhea	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0002570	Steatorrhea	-	OMIM:235555
6718	AKR1D1	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0001396	Cholestasis	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0001399	Hepatic failure	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0001399	Hepatic failure	-	OMIM:235555
6718	AKR1D1	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0000007	Autosomal recessive inheritance	-	OMIM:235555
6718	AKR1D1	HP:0002630	Fat malabsorption	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0000107	Renal cyst	HP:0040283	ORPHA:79303
6718	AKR1D1	HP:0001406	Intrahepatic cholestasis	-	OMIM:235555
6718	AKR1D1	HP:0002748	Rickets	HP:0040283	ORPHA:79303
6718	AKR1D1	HP:0030984	Abnormal serum bile acid concentration	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0040319	Dark urine	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0002014	Diarrhea	-	OMIM:235555
6718	AKR1D1	HP:0100513	Decreased circulating vitamin E concentration	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0008151	Prolonged prothrombin time	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0002240	Hepatomegaly	-	OMIM:235555
6718	AKR1D1	HP:0200084	Giant cell hepatitis	HP:0040281	ORPHA:79303
6718	AKR1D1	HP:0003645	Prolonged partial thromboplastin time	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0003623	Neonatal onset	-	OMIM:235555
6718	AKR1D1	HP:0001978	Extramedullary hematopoiesis	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0003155	Elevated circulating alkaline phosphatase concentration	-	OMIM:235555
6718	AKR1D1	HP:0003256	Abnormality of the coagulation cascade	-	OMIM:235555
6718	AKR1D1	HP:0003256	Abnormality of the coagulation cascade	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0000952	Jaundice	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0000952	Jaundice	-	OMIM:235555
6718	AKR1D1	HP:0001508	Failure to thrive	-	OMIM:235555
6718	AKR1D1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:79303
6718	AKR1D1	HP:0011040	Abnormal intrahepatic bile duct morphology	HP:0040283	ORPHA:79303
6718	AKR1D1	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:235555
6718	AKR1D1	HP:0002908	Conjugated hyperbilirubinemia	HP:0040282	ORPHA:79303
6718	AKR1D1	HP:0002904	Hyperbilirubinemia	HP:0040281	ORPHA:79303
6718	AKR1D1	HP:0002904	Hyperbilirubinemia	-	OMIM:235555
6718	AKR1D1	HP:0001744	Splenomegaly	-	OMIM:235555
6720	SREBF1	HP:0009926	Epiphora	-	OMIM:158310
6720	SREBF1	HP:0100806	Sepsis	HP:0040283	ORPHA:388
6720	SREBF1	HP:0500262	Atrichia	5/12	OMIM:619016
6720	SREBF1	HP:0007502	Follicular hyperkeratosis	7/7	OMIM:158310
6720	SREBF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:158310
6720	SREBF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619016
6720	SREBF1	HP:0031291	Ichthyosis follicularis	10/12	OMIM:619016
6720	SREBF1	HP:0002728	Chronic mucocutaneous candidiasis	-	OMIM:158310
6720	SREBF1	HP:0002019	Constipation	HP:0040281	ORPHA:388
6720	SREBF1	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:388
6720	SREBF1	HP:0002027	Abdominal pain	HP:0040281	ORPHA:388
6720	SREBF1	HP:0002028	Chronic diarrhea	HP:0040283	OMIM:158310
6720	SREBF1	HP:0002014	Diarrhea	HP:0040283	ORPHA:388
6720	SREBF1	HP:0033194	Perioral erythema	2/12	OMIM:619016
6720	SREBF1	HP:0002090	Pneumonia	-	OMIM:158310
6720	SREBF1	HP:0034418	Erythematous oral mucosa	7/7	OMIM:158310
6720	SREBF1	HP:6000224	Delayed passage of meconium	HP:0040282	ORPHA:388
6720	SREBF1	HP:0002164	Nail dysplasia	HP:0040283	OMIM:158310
6720	SREBF1	HP:0003577	Congenital onset	-	OMIM:158310
6720	SREBF1	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:388
6720	SREBF1	HP:0002249	Melena	HP:0040283	OMIM:158310
6720	SREBF1	HP:0002208	Coarse hair	7/7	OMIM:158310
6720	SREBF1	HP:0008404	Nail dystrophy	HP:0040283	OMIM:158310
6720	SREBF1	HP:0008404	Nail dystrophy	1/12	OMIM:619016
6720	SREBF1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:388
6720	SREBF1	HP:0008396	Chronic monilial nail infection	-	OMIM:158310
6720	SREBF1	HP:0001096	Keratoconjunctivitis	5/7	OMIM:158310
6720	SREBF1	HP:0001097	Keratoconjunctivitis sicca	1/12	OMIM:619016
6720	SREBF1	HP:0032152	Keratosis pilaris	7/7	OMIM:158310
6720	SREBF1	HP:0034754	Bilious emesis	HP:0040282	ORPHA:388
6720	SREBF1	HP:0000639	Nystagmus	-	OMIM:158310
6720	SREBF1	HP:0000618	Blindness	-	OMIM:158310
6720	SREBF1	HP:0000613	Photophobia	5/7	OMIM:158310
6720	SREBF1	HP:0000613	Photophobia	10/12	OMIM:619016
6720	SREBF1	HP:0004322	Short stature	HP:0040283	ORPHA:388
6720	SREBF1	HP:0004387	Enterocolitis	HP:0040283	ORPHA:388
6720	SREBF1	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040281	ORPHA:388
6720	SREBF1	HP:0011496	Corneal neovascularization	-	OMIM:158310
6720	SREBF1	HP:0000790	Hematuria	HP:0040283	OMIM:158310
6720	SREBF1	HP:0003270	Abdominal distention	HP:0040282	ORPHA:388
6720	SREBF1	HP:0008070	Sparse hair	7/7	OMIM:158310
6720	SREBF1	HP:0008070	Sparse hair	6/12	OMIM:619016
6720	SREBF1	HP:0001596	Alopecia	7/7	OMIM:158310
6720	SREBF1	HP:0031417	Rhinorrhea	-	OMIM:158310
6720	SREBF1	HP:0007759	Opacification of the corneal stroma	-	OMIM:158310
6720	SREBF1	HP:0000221	Furrowed tongue	7/7	OMIM:158310
6720	SREBF1	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:388
6720	SREBF1	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:388
6720	SREBF1	HP:0031369	Colon perforation	HP:0040283	ORPHA:388
6720	SREBF1	HP:0001510	Growth delay	HP:0040283	ORPHA:388
6720	SREBF1	HP:0005214	Intestinal obstruction	HP:0040281	ORPHA:388
6720	SREBF1	HP:0006552	Fibrocystic lung disease	-	OMIM:158310
6720	SREBF1	HP:0006532	Recurrent pneumonia	HP:0040283	OMIM:158310
6720	SREBF1	HP:0000365	Hearing impairment	0/7	OMIM:158310
6720	SREBF1	HP:0001648	Cor pulmonale	-	OMIM:158310
6720	SREBF1	HP:0025610	Posterior blepharitis	8/12	OMIM:619016
6720	SREBF1	HP:0030318	Angular cheilitis	2/12	OMIM:619016
6720	SREBF1	HP:0000486	Strabismus	4/12	OMIM:619016
6720	SREBF1	HP:0000491	Keratitis	4/12	OMIM:619016
6720	SREBF1	HP:0000518	Cataract	4/7	OMIM:158310
6720	SREBF1	HP:0000518	Cataract	4/12	OMIM:619016
6720	SREBF1	HP:0001824	Weight loss	HP:0040282	ORPHA:388
6720	SREBF1	HP:0000565	Esotropia	-	OMIM:158310
6720	SREBF1	HP:0001880	Increased total eosinophil count	-	OMIM:158310
6722	SRF	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
6722	SRF	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
6722	SRF	HP:0004467	Preauricular pit	-	OMIM:187500
6722	SRF	HP:0000337	Broad forehead	-	OMIM:187500
6722	SRF	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
6722	SRF	HP:0000520	Proptosis	-	OMIM:187500
6728	SRP19	HP:0025452	Pyoderma gangrenosum	HP:0040283	ORPHA:486
6728	SRP19	HP:0025439	Pharyngitis	HP:0040282	ORPHA:486
6728	SRP19	HP:0000155	Oral ulcer	HP:0040282	ORPHA:486
6728	SRP19	HP:0410018	Recurrent ear infections	HP:0040282	ORPHA:486
6728	SRP19	HP:0002718	Recurrent bacterial infections	HP:0040281	ORPHA:486
6728	SRP19	HP:0002027	Abdominal pain	HP:0040282	ORPHA:486
6728	SRP19	HP:0002014	Diarrhea	HP:0040282	ORPHA:486
6728	SRP19	HP:0002090	Pneumonia	HP:0040282	ORPHA:486
6728	SRP19	HP:0003453	Antineutrophil antibody positivity	HP:0040283	ORPHA:486
6728	SRP19	HP:0004798	Recurrent infection of the gastrointestinal tract	HP:0040282	ORPHA:486
6728	SRP19	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:486
6728	SRP19	HP:0001028	Hemangioma	HP:0040283	ORPHA:486
6728	SRP19	HP:0100658	Cellulitis	HP:0040283	ORPHA:486
6728	SRP19	HP:0001945	Fever	HP:0040282	ORPHA:486
6728	SRP19	HP:0001909	Leukemia	HP:0040283	ORPHA:486
6728	SRP19	HP:0001915	Aplastic anemia	HP:0040283	ORPHA:486
6728	SRP19	HP:0000704	Periodontitis	HP:0040282	ORPHA:486
6728	SRP19	HP:0004429	Recurrent viral infections	HP:0040281	ORPHA:486
6728	SRP19	HP:0000938	Osteopenia	HP:0040283	ORPHA:486
6728	SRP19	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:486
6728	SRP19	HP:0000230	Gingivitis	HP:0040282	ORPHA:486
6728	SRP19	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:486
6728	SRP19	HP:0012384	Rhinitis	HP:0040282	ORPHA:486
6728	SRP19	HP:0006480	Premature loss of teeth	HP:0040283	ORPHA:486
6728	SRP19	HP:0012311	Increased total monocyte count	HP:0040282	ORPHA:486
6728	SRP19	HP:0011107	Recurrent aphthous stomatitis	HP:0040282	ORPHA:486
6728	SRP19	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:486
6728	SRP19	HP:0006721	Acute lymphoblastic leukemia	HP:0040283	ORPHA:486
6728	SRP19	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:486
6728	SRP19	HP:0001880	Increased total eosinophil count	HP:0040283	ORPHA:486
6728	SRP19	HP:0001875	Decreased total neutrophil count	HP:0040280	ORPHA:486
6729	SRP54	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6729	SRP54	HP:0001293	Cranial nerve compression	-	OMIM:131300
6729	SRP54	HP:0001256	Intellectual disability, mild	-	OMIM:260400
6729	SRP54	HP:0001252	Hypotonia	2/7	OMIM:615777
6729	SRP54	HP:0001249	Intellectual disability	5/7	OMIM:615777
6729	SRP54	HP:0001263	Global developmental delay	-	OMIM:618752
6729	SRP54	HP:0001263	Global developmental delay	-	OMIM:260400
6729	SRP54	HP:0001263	Global developmental delay	-	OMIM:615777
6729	SRP54	HP:0002570	Steatorrhea	1/3	OMIM:618752
6729	SRP54	HP:0002570	Steatorrhea	-	OMIM:260400
6729	SRP54	HP:0033607	Bone marrow arrest at the promyelocytic stage	3/3	OMIM:618752
6729	SRP54	HP:0002515	Waddling gait	54/102	OMIM:131300
6729	SRP54	HP:0001382	Joint hypermobility	-	OMIM:615777
6729	SRP54	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6729	SRP54	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6729	SRP54	HP:0008872	Feeding difficulties in infancy	2/3	OMIM:618752
6729	SRP54	HP:0001328	Specific learning disability	-	OMIM:260400
6729	SRP54	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6729	SRP54	HP:0001324	Muscle weakness	40/96	OMIM:131300
6729	SRP54	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6729	SRP54	HP:0000007	Autosomal recessive inheritance	-	OMIM:260400
6729	SRP54	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6729	SRP54	HP:0000006	Autosomal dominant inheritance	-	OMIM:618752
6729	SRP54	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6729	SRP54	HP:0002650	Scoliosis	12/14	OMIM:131300
6729	SRP54	HP:0002643	Neonatal respiratory distress	-	OMIM:260400
6729	SRP54	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6729	SRP54	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6729	SRP54	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6729	SRP54	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6729	SRP54	HP:0000175	Cleft palate	2/7	OMIM:615777
6729	SRP54	HP:0000121	Nephrocalcinosis	-	OMIM:260400
6729	SRP54	HP:0002750	Delayed skeletal maturation	-	OMIM:260400
6729	SRP54	HP:0002719	Recurrent infections	-	OMIM:260400
6729	SRP54	HP:0003300	Ovoid vertebral bodies	-	OMIM:260400
6729	SRP54	HP:0002098	Respiratory distress	-	OMIM:260400
6729	SRP54	HP:0003375	Narrow greater sciatic notch	-	OMIM:260400
6729	SRP54	HP:0003388	Easy fatigability	36/76	OMIM:131300
6729	SRP54	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6729	SRP54	HP:0003411	Proximal femoral metaphyseal irregularity	6/6	OMIM:260400
6729	SRP54	HP:0011904	Persistence of hemoglobin F	-	OMIM:260400
6729	SRP54	HP:0002240	Hepatomegaly	-	OMIM:260400
6729	SRP54	HP:0010701	Abnormal circulating immunoglobulin concentration	0/2	OMIM:618752
6729	SRP54	HP:0003510	Severe short stature	7/7	OMIM:615777
6729	SRP54	HP:0004808	Acute myeloid leukemia	-	OMIM:260400
6729	SRP54	HP:0004979	Metaphyseal sclerosis	-	OMIM:260400
6729	SRP54	HP:0002315	Headache	-	OMIM:131300
6729	SRP54	HP:0004976	Knee dislocation	6/7	OMIM:615777
6729	SRP54	HP:0009803	Short phalanx of finger	-	OMIM:615777
6729	SRP54	HP:0009763	Limb pain	63/92	OMIM:131300
6729	SRP54	HP:0003623	Neonatal onset	2/3	OMIM:618752
6729	SRP54	HP:0003621	Juvenile onset	-	OMIM:131300
6729	SRP54	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6729	SRP54	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6729	SRP54	HP:6001056	Out-toeing	-	OMIM:131300
6729	SRP54	HP:0000651	Diplopia	-	OMIM:131300
6729	SRP54	HP:0001956	Truncal obesity	2/7	OMIM:615777
6729	SRP54	HP:0001903	Anemia	-	OMIM:260400
6729	SRP54	HP:0001903	Anemia	HP:0040283	OMIM:131300
6729	SRP54	HP:0010049	Short metacarpal	-	OMIM:615777
6729	SRP54	HP:0000678	Dental crowding	-	OMIM:615777
6729	SRP54	HP:0000670	Carious teeth	-	OMIM:131300
6729	SRP54	HP:0011304	Broad thumb	2/7	OMIM:615777
6729	SRP54	HP:0000668	Hypodontia	-	OMIM:615777
6729	SRP54	HP:0000664	Synophrys	-	OMIM:615777
6729	SRP54	HP:0004322	Short stature	2/3	OMIM:618752
6729	SRP54	HP:0004322	Short stature	-	OMIM:260400
6729	SRP54	HP:0004396	Poor appetite	-	OMIM:131300
6729	SRP54	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6729	SRP54	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6729	SRP54	HP:0003016	Metaphyseal widening	-	OMIM:260400
6729	SRP54	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6729	SRP54	HP:0003026	Short long bone	7/7	OMIM:615777
6729	SRP54	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6729	SRP54	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6729	SRP54	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6729	SRP54	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6729	SRP54	HP:0000750	Delayed speech and language development	-	OMIM:615777
6729	SRP54	HP:0000729	Autistic behavior	2/2	OMIM:618752
6729	SRP54	HP:0011463	Childhood onset	1/3	OMIM:618752
6729	SRP54	HP:0011461	Fetal onset	7/7	OMIM:615777
6729	SRP54	HP:0000774	Narrow chest	-	OMIM:260400
6729	SRP54	HP:0000774	Narrow chest	2/7	OMIM:615777
6729	SRP54	HP:0000926	Platyspondyly	1/7	OMIM:615777
6729	SRP54	HP:0000920	Enlargement of the costochondral junction	-	OMIM:260400
6729	SRP54	HP:0003180	Flat acetabular roof	-	OMIM:615777
6729	SRP54	HP:0000907	Anterior rib cupping	6/6	OMIM:260400
6729	SRP54	HP:0004482	Relative macrocephaly	-	OMIM:615777
6729	SRP54	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6729	SRP54	HP:0000823	Delayed puberty	-	OMIM:131300
6729	SRP54	HP:0000894	Short clavicles	-	OMIM:615777
6729	SRP54	HP:0005871	Metaphyseal chondrodysplasia	-	OMIM:260400
6729	SRP54	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6729	SRP54	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6729	SRP54	HP:0000286	Epicanthus	1/7	OMIM:615777
6729	SRP54	HP:0000280	Coarse facial features	2/7	OMIM:615777
6729	SRP54	HP:0006461	Proximal femoral epiphysiolysis	-	OMIM:260400
6729	SRP54	HP:0002812	Coxa vara	-	OMIM:260400
6729	SRP54	HP:0002827	Hip dislocation	3/7	OMIM:615777
6729	SRP54	HP:0000252	Microcephaly	-	OMIM:615777
6729	SRP54	HP:0002857	Genu valgum	-	OMIM:131300
6729	SRP54	HP:0001533	Slender build	-	OMIM:131300
6729	SRP54	HP:0002863	Myelodysplasia	-	OMIM:260400
6729	SRP54	HP:0001508	Failure to thrive	-	OMIM:260400
6729	SRP54	HP:0001518	Small for gestational age	-	OMIM:260400
6729	SRP54	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6729	SRP54	HP:0007807	Optic nerve compression	-	OMIM:131300
6729	SRP54	HP:0012368	Flat face	7/7	OMIM:615777
6729	SRP54	HP:0006598	Irregular ossification at anterior rib ends	-	OMIM:260400
6729	SRP54	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6729	SRP54	HP:0002910	Elevated circulating hepatic transaminase concentration	1/3	OMIM:618752
6729	SRP54	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:260400
6729	SRP54	HP:0000365	Hearing impairment	10/67	OMIM:131300
6729	SRP54	HP:0000343	Long philtrum	1/7	OMIM:615777
6729	SRP54	HP:0011001	Increased bone mineral density	-	OMIM:131300
6729	SRP54	HP:0000311	Round face	2/7	OMIM:615777
6729	SRP54	HP:0002970	Genu varum	-	OMIM:615777
6729	SRP54	HP:0000303	Mandibular prognathia	-	OMIM:131300
6729	SRP54	HP:0001738	Exocrine pancreatic insufficiency	2/3	OMIM:618752
6729	SRP54	HP:0001738	Exocrine pancreatic insufficiency	-	OMIM:260400
6729	SRP54	HP:0001700	Myocardial necrosis	-	OMIM:260400
6729	SRP54	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6729	SRP54	HP:0000470	Short neck	1/7	OMIM:615777
6729	SRP54	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6729	SRP54	HP:0001763	Pes planus	1/7	OMIM:615777
6729	SRP54	HP:0001840	Metatarsus adductus	-	OMIM:615777
6729	SRP54	HP:0000520	Proptosis	2/4	OMIM:131300
6729	SRP54	HP:0000520	Proptosis	7/7	OMIM:615777
6729	SRP54	HP:0000592	Blue sclerae	2/7	OMIM:615777
6729	SRP54	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6729	SRP54	HP:0012514	Lower limb pain	4/4	OMIM:131300
6729	SRP54	HP:0001873	Thrombocytopenia	-	OMIM:260400
6729	SRP54	HP:0001876	Pancytopenia	-	OMIM:260400
6729	SRP54	HP:0001875	Decreased total neutrophil count	3/3	OMIM:618752
6729	SRP54	HP:0001875	Decreased total neutrophil count	-	OMIM:260400
6730	SRP68	HP:0033607	Bone marrow arrest at the promyelocytic stage	1/1	OMIM:620534
6730	SRP68	HP:0000007	Autosomal recessive inheritance	-	OMIM:620534
6730	SRP68	HP:0012136	Dysplastic granulopoesis	1/1	OMIM:620534
6730	SRP68	HP:0033150	Anorectal abscess	1/1	OMIM:620534
6730	SRP68	HP:0003593	Infantile onset	1/1	OMIM:620534
6730	SRP68	HP:0001903	Anemia	1/1	OMIM:620534
6730	SRP68	HP:0012311	Increased total monocyte count	1/1	OMIM:620534
6730	SRP68	HP:0001873	Thrombocytopenia	1/1	OMIM:620534
6730	SRP68	HP:0001875	Decreased total neutrophil count	1/1	OMIM:620534
6731	SRP72	HP:0000006	Autosomal dominant inheritance	-	OMIM:614675
6731	SRP72	HP:0005528	Bone marrow hypocellularity	4/6	OMIM:614675
6731	SRP72	HP:0001915	Aplastic anemia	1/6	OMIM:614675
6731	SRP72	HP:0002863	Myelodysplasia	2/6	OMIM:614675
6731	SRP72	HP:0000407	Sensorineural hearing impairment	4/6	OMIM:614675
6731	SRP72	HP:0001876	Pancytopenia	2/6	OMIM:614675
6736	SRY	HP:0002442	Dyscalculia	HP:0040283	ORPHA:1772
6736	SRY	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:1772
6736	SRY	HP:0008726	Hypoplasia of the vagina	HP:0040281	ORPHA:251510
6736	SRY	HP:0008730	Female external genitalia in individual with 46,XY karyotype	HP:0040281	ORPHA:251510
6736	SRY	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:393
6736	SRY	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:251510
6736	SRY	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:251510
6736	SRY	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:2138
6736	SRY	HP:0008715	Testicular dysgenesis	HP:0040281	ORPHA:242
6736	SRY	HP:0008723	Gonadal dysgenesis with female appearance, male	1/1	OMIM:400044
6736	SRY	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:1772
6736	SRY	HP:0008665	Clitoral hypertrophy	-	OMIM:400045
6736	SRY	HP:0008665	Clitoral hypertrophy	HP:0040281	ORPHA:251510
6736	SRY	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:1772
6736	SRY	HP:0000098	Tall stature	-	OMIM:400044
6736	SRY	HP:0000098	Tall stature	-	OMIM:400045
6736	SRY	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:393
6736	SRY	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:251510
6736	SRY	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:2138
6736	SRY	HP:0000062	Ambiguous genitalia	-	OMIM:400044
6736	SRY	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:1772
6736	SRY	HP:0000061	Ambiguous genitalia, female	HP:0040282	ORPHA:1772
6736	SRY	HP:0000058	Abnormal labia morphology	HP:0040281	ORPHA:251510
6736	SRY	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:1772
6736	SRY	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:242
6736	SRY	HP:0000046	Small scrotum	HP:0040281	ORPHA:2138
6736	SRY	HP:0000045	Abnormal scrotum morphology	HP:0040283	ORPHA:1772
6736	SRY	HP:0000045	Abnormal scrotum morphology	HP:0040281	ORPHA:251510
6736	SRY	HP:0000041	Chordee	HP:0040283	ORPHA:1772
6736	SRY	HP:0000037	Male pseudohermaphroditism	-	OMIM:400044
6736	SRY	HP:0000037	Male pseudohermaphroditism	HP:0040281	ORPHA:242
6736	SRY	HP:0000039	Epispadias	HP:0040283	ORPHA:1772
6736	SRY	HP:0000055	Abnormal female external genitalia morphology	-	OMIM:400044
6736	SRY	HP:0000054	Micropenis	HP:0040281	ORPHA:251510
6736	SRY	HP:0000054	Micropenis	HP:0040282	ORPHA:1772
6736	SRY	HP:0000048	Bifid scrotum	HP:0040281	ORPHA:2138
6736	SRY	HP:0000048	Bifid scrotum	HP:0040283	ORPHA:1772
6736	SRY	HP:0000047	Hypospadias	HP:0040281	ORPHA:251510
6736	SRY	HP:0000047	Hypospadias	HP:0040281	ORPHA:2138
6736	SRY	HP:0000047	Hypospadias	-	OMIM:400045
6736	SRY	HP:0000047	Hypospadias	HP:0040282	ORPHA:1772
6736	SRY	HP:0000022	Abnormal male internal genitalia morphology	HP:0040281	ORPHA:2138
6736	SRY	HP:0000033	Ambiguous genitalia, male	HP:0040282	ORPHA:1772
6736	SRY	HP:0000032	Abnormal male external genitalia morphology	-	OMIM:400044
6736	SRY	HP:0000030	Testicular gonadoblastoma	HP:0040283	ORPHA:251510
6736	SRY	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:393
6736	SRY	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:251510
6736	SRY	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2138
6736	SRY	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:1772
6736	SRY	HP:0000027	Azoospermia	-	OMIM:400045
6736	SRY	HP:0000027	Azoospermia	HP:0040282	ORPHA:1772
6736	SRY	HP:0000027	Azoospermia	HP:0040281	ORPHA:251510
6736	SRY	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040281	ORPHA:2138
6736	SRY	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:251510
6736	SRY	HP:0002650	Scoliosis	HP:0040283	ORPHA:1772
6736	SRY	HP:0000142	Abnormal vagina morphology	HP:0040281	ORPHA:251510
6736	SRY	HP:0000144	Decreased fertility	HP:0040281	ORPHA:2138
6736	SRY	HP:0000140	Abnormality of the menstrual cycle	-	OMIM:400044
6736	SRY	HP:0000150	Gonadoblastoma	HP:0040283	ORPHA:1772
6736	SRY	HP:0000150	Gonadoblastoma	HP:0040282	ORPHA:251510
6736	SRY	HP:0000150	Gonadoblastoma	-	OMIM:400044
6736	SRY	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:393
6736	SRY	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:2138
6736	SRY	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:242
6736	SRY	HP:0000149	Ovarian gonadoblastoma	HP:0040283	ORPHA:251510
6736	SRY	HP:0008968	Muscle hypertrophy of the lower extremities	HP:0040281	ORPHA:1772
6736	SRY	HP:0001450	Y-linked inheritance	-	OMIM:400044
6736	SRY	HP:0000133	Gonadal dysgenesis	-	OMIM:400044
6736	SRY	HP:0000133	Gonadal dysgenesis	HP:0040281	ORPHA:251510
6736	SRY	HP:0000130	Abnormality of the uterus	HP:0040281	ORPHA:2138
6736	SRY	HP:0000100	Nephrotic syndrome	HP:0040284	ORPHA:251510
6736	SRY	HP:0001423	X-linked dominant inheritance	-	OMIM:400045
6736	SRY	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:251510
6736	SRY	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:1772
6736	SRY	HP:0008193	Primary gonadal insufficiency	HP:0040283	ORPHA:251510
6736	SRY	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:251510
6736	SRY	HP:0008187	Absence of secondary sex characteristics	-	OMIM:400044
6736	SRY	HP:0010464	Streak ovary	HP:0040283	ORPHA:1772
6736	SRY	HP:0010464	Streak ovary	HP:0040281	ORPHA:251510
6736	SRY	HP:0010459	True hermaphroditism	HP:0040281	ORPHA:2138
6736	SRY	HP:0010459	True hermaphroditism	-	OMIM:400045
6736	SRY	HP:0002164	Nail dysplasia	HP:0040283	ORPHA:1772
6736	SRY	HP:0002162	Low posterior hairline	HP:0040283	ORPHA:1772
6736	SRY	HP:0008232	Elevated circulating follicle stimulating hormone level	1/1	OMIM:400044
6736	SRY	HP:0008232	Elevated circulating follicle stimulating hormone level	-	OMIM:400045
6736	SRY	HP:0008232	Elevated circulating follicle stimulating hormone level	HP:0040281	ORPHA:251510
6736	SRY	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:251510
6736	SRY	HP:0002215	Sparse axillary hair	HP:0040281	ORPHA:251510
6736	SRY	HP:0002225	Sparse pubic hair	HP:0040281	ORPHA:251510
6736	SRY	HP:0100779	Urogenital sinus anomaly	HP:0040281	ORPHA:2138
6736	SRY	HP:0100779	Urogenital sinus anomaly	HP:0040282	ORPHA:1772
6736	SRY	HP:0100779	Urogenital sinus anomaly	HP:0040281	ORPHA:251510
6736	SRY	HP:0011969	Elevated circulating luteinizing hormone level	1/1	OMIM:400044
6736	SRY	HP:0011969	Elevated circulating luteinizing hormone level	-	OMIM:400045
6736	SRY	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040281	ORPHA:251510
6736	SRY	HP:0001087	Developmental glaucoma	HP:0040283	ORPHA:1772
6736	SRY	HP:0010743	Short metatarsal	HP:0040283	ORPHA:1772
6736	SRY	HP:0000639	Nystagmus	HP:0040283	ORPHA:1772
6736	SRY	HP:0010044	Short 4th metacarpal	HP:0040283	ORPHA:1772
6736	SRY	HP:0004322	Short stature	HP:0040281	ORPHA:1772
6736	SRY	HP:0030680	Abnormal cardiovascular system morphology	HP:0040284	ORPHA:251510
6736	SRY	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:1772
6736	SRY	HP:0000808	Penoscrotal hypospadias	HP:0040282	ORPHA:1772
6736	SRY	HP:0012741	Unilateral cryptorchidism	HP:0040281	ORPHA:1772
6736	SRY	HP:0000771	Gynecomastia	HP:0040281	ORPHA:251510
6736	SRY	HP:0000771	Gynecomastia	-	OMIM:400045
6736	SRY	HP:0000771	Gynecomastia	HP:0040283	ORPHA:1772
6736	SRY	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:1772
6736	SRY	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1772
6736	SRY	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:251510
6736	SRY	HP:0000786	Primary amenorrhea	1/1	OMIM:400044
6736	SRY	HP:0012870	Vanishing testis	HP:0040281	ORPHA:251510
6736	SRY	HP:0012856	Abnormal scrotal rugation	HP:0040281	ORPHA:2138
6736	SRY	HP:0012861	Ovotestis	HP:0040283	ORPHA:1772
6736	SRY	HP:0012861	Ovotestis	-	OMIM:400045
6736	SRY	HP:0000868	Decreased fertility in females	HP:0040281	ORPHA:251510
6736	SRY	HP:0000837	Increased circulating gonadotropin level	HP:0040282	ORPHA:1772
6736	SRY	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:251510
6736	SRY	HP:0000846	Adrenal insufficiency	HP:0040283	ORPHA:251510
6736	SRY	HP:0000815	Hypergonadotropic hypogonadism	1/1	OMIM:400044
6736	SRY	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:251510
6736	SRY	HP:0000813	Bicornuate uterus	-	OMIM:400045
6736	SRY	HP:0000812	Abnormal internal genitalia	HP:0040282	ORPHA:1772
6736	SRY	HP:0000812	Abnormal internal genitalia	HP:0040281	ORPHA:251510
6736	SRY	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1772
6736	SRY	HP:0000823	Delayed puberty	HP:0040282	ORPHA:251510
6736	SRY	HP:0000823	Delayed puberty	HP:0040283	ORPHA:1772
6736	SRY	HP:0012887	Ovarian serous cystadenoma	HP:0040283	ORPHA:1772
6736	SRY	HP:0003251	Male infertility	HP:0040281	ORPHA:251510
6736	SRY	HP:0003251	Male infertility	HP:0040282	ORPHA:1772
6736	SRY	HP:0000939	Osteoporosis	HP:0040281	ORPHA:251510
6736	SRY	HP:0040171	Decreased serum testosterone concentration	HP:0040283	ORPHA:1772
6736	SRY	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:251510
6736	SRY	HP:0000286	Epicanthus	HP:0040283	ORPHA:1772
6736	SRY	HP:0012244	Abnormal sex determination	HP:0040281	ORPHA:251510
6736	SRY	HP:0012245	Sex reversal	1/1	OMIM:400044
6736	SRY	HP:0012245	Sex reversal	-	OMIM:400045
6736	SRY	HP:0030079	Cervix cancer	HP:0040283	ORPHA:1772
6736	SRY	HP:0000218	High palate	HP:0040283	ORPHA:1772
6736	SRY	HP:0001513	Obesity	HP:0040283	ORPHA:1772
6736	SRY	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1772
6736	SRY	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:1772
6736	SRY	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:1772
6736	SRY	HP:0000347	Micrognathia	HP:0040283	ORPHA:1772
6736	SRY	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:1772
6736	SRY	HP:0001649	Tachycardia	HP:0040283	ORPHA:1772
6736	SRY	HP:0001657	Prolonged QT interval	HP:0040283	ORPHA:1772
6736	SRY	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:1772
6736	SRY	HP:0006610	Wide intermamillary distance	HP:0040283	ORPHA:1772
6736	SRY	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:1772
6736	SRY	HP:0000465	Webbed neck	HP:0040283	ORPHA:1772
6736	SRY	HP:0001822	Hallux valgus	HP:0040283	ORPHA:1772
6736	SRY	HP:0000505	Visual impairment	HP:0040283	ORPHA:1772
6742	SSBP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:165510
6742	SSBP1	HP:0007663	Reduced visual acuity	-	OMIM:165510
6742	SSBP1	HP:0003621	Juvenile onset	7/18	OMIM:165510
6742	SSBP1	HP:0000648	Optic atrophy	18/18	OMIM:165510
6742	SSBP1	HP:0011463	Childhood onset	8/18	OMIM:165510
6742	SSBP1	HP:0011462	Young adult onset	3/18	OMIM:165510
6742	SSBP1	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:165510
6742	SSBP1	HP:0000512	Abnormal electroretinogram	-	OMIM:165510
6748	SSR4	HP:0001290	Generalized hypotonia	HP:0040280	ORPHA:370927
6748	SSR4	HP:0001290	Generalized hypotonia	-	OMIM:300934
6748	SSR4	HP:0001250	Seizure	HP:0040282	ORPHA:370927
6748	SSR4	HP:0001250	Seizure	5/9	OMIM:300934
6748	SSR4	HP:0001252	Hypotonia	9/9	OMIM:300934
6748	SSR4	HP:0001249	Intellectual disability	HP:0040280	ORPHA:370927
6748	SSR4	HP:0001249	Intellectual disability	9/9	OMIM:300934
6748	SSR4	HP:0001263	Global developmental delay	HP:0040280	ORPHA:370927
6748	SSR4	HP:0001263	Global developmental delay	9/9	OMIM:300934
6748	SSR4	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:370927
6748	SSR4	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:370927
6748	SSR4	HP:0001373	Joint dislocation	HP:0040283	ORPHA:370927
6748	SSR4	HP:0001373	Joint dislocation	-	OMIM:300934
6748	SSR4	HP:0000047	Hypospadias	-	OMIM:300934
6748	SSR4	HP:0001331	Absent septum pellucidum	HP:0040283	ORPHA:370927
6748	SSR4	HP:0002650	Scoliosis	HP:0040283	ORPHA:370927
6748	SSR4	HP:0002650	Scoliosis	-	OMIM:300934
6748	SSR4	HP:0000154	Wide mouth	HP:0040281	ORPHA:370927
6748	SSR4	HP:0000154	Wide mouth	-	OMIM:300934
6748	SSR4	HP:0001419	X-linked recessive inheritance	-	OMIM:300934
6748	SSR4	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:370927
6748	SSR4	HP:0002013	Vomiting	HP:0040281	ORPHA:370927
6748	SSR4	HP:0002098	Respiratory distress	-	OMIM:300934
6748	SSR4	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:370927
6748	SSR4	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	OMIM:300934
6748	SSR4	HP:0003577	Congenital onset	-	OMIM:300934
6748	SSR4	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:370927
6748	SSR4	HP:0011968	Feeding difficulties	8/9	OMIM:300934
6748	SSR4	HP:0003642	Type I transferrin isoform profile	-	OMIM:300934
6748	SSR4	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:370927
6748	SSR4	HP:0001928	Abnormality of coagulation	HP:0040283	OMIM:300934
6748	SSR4	HP:0011339	Abnormality of upper lip vermillion	HP:0040281	ORPHA:370927
6748	SSR4	HP:0000687	Widely spaced teeth	HP:0040281	ORPHA:370927
6748	SSR4	HP:0000687	Widely spaced teeth	-	OMIM:300934
6748	SSR4	HP:0001999	Abnormal facial shape	HP:0040280	ORPHA:370927
6748	SSR4	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:370927
6748	SSR4	HP:0003256	Abnormality of the coagulation cascade	HP:0040284	ORPHA:370927
6748	SSR4	HP:0030084	Clinodactyly	-	OMIM:300934
6748	SSR4	HP:0000252	Microcephaly	HP:0040280	ORPHA:370927
6748	SSR4	HP:0000252	Microcephaly	9/9	OMIM:300934
6748	SSR4	HP:0001508	Failure to thrive	HP:0040281	ORPHA:370927
6748	SSR4	HP:0001508	Failure to thrive	7/9	OMIM:300934
6748	SSR4	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040281	ORPHA:370927
6748	SSR4	HP:0000347	Micrognathia	-	OMIM:300934
6748	SSR4	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:370927
6748	SSR4	HP:0001626	Abnormality of the cardiovascular system	HP:0040283	ORPHA:370927
6748	SSR4	HP:0000400	Macrotia	HP:0040281	ORPHA:370927
6748	SSR4	HP:0000400	Macrotia	-	OMIM:300934
6748	SSR4	HP:0000486	Strabismus	HP:0040281	ORPHA:370927
6748	SSR4	HP:0000486	Strabismus	7/9	OMIM:300934
6748	SSR4	HP:0000490	Deeply set eye	HP:0040281	ORPHA:370927
6748	SSR4	HP:0000490	Deeply set eye	-	OMIM:300934
6756	SSX1	HP:0032558	Absent sperm flagella	3/5	OMIM:301099
6756	SSX1	HP:0032559	Short sperm flagella	5/5	OMIM:301099
6756	SSX1	HP:0032560	Coiled sperm flagella	5/5	OMIM:301099
6756	SSX1	HP:0001417	X-linked inheritance	-	OMIM:301099
6756	SSX1	HP:0033393	Irregularly shaped sperm tail	5/5	OMIM:301099
6756	SSX1	HP:0034011	Reduced progressive sperm motility	6/6	OMIM:301099
6756	SSX1	HP:0011462	Young adult onset	6/6	OMIM:301099
6756	SSX1	HP:0003251	Male infertility	6/6	OMIM:301099
6756	SSX1	HP:0012207	Reduced sperm motility	6/6	OMIM:301099
6768	ST14	HP:0003777	Pili torti	3/3	OMIM:602400
6768	ST14	HP:0007431	Congenital ichthyosiform erythroderma	1/1	OMIM:602400
6768	ST14	HP:0000007	Autosomal recessive inheritance	-	OMIM:602400
6768	ST14	HP:0007665	Curly eyelashes	3/3	OMIM:602400
6768	ST14	HP:0003577	Congenital onset	4/4	OMIM:602400
6768	ST14	HP:0002231	Sparse body hair	1/1	OMIM:602400
6768	ST14	HP:0002212	Curly hair	4/4	OMIM:602400
6768	ST14	HP:0002299	Brittle hair	3/3	OMIM:602400
6768	ST14	HP:0000613	Photophobia	3/4	OMIM:602400
6768	ST14	HP:0000653	Sparse eyelashes	1/1	OMIM:602400
6768	ST14	HP:0045075	Sparse eyebrow	4/4	OMIM:602400
6768	ST14	HP:0000989	Pruritus	3/3	OMIM:602400
6768	ST14	HP:0000966	Hypohidrosis	0/3	OMIM:602400
6768	ST14	HP:0000962	Hyperkeratosis	-	OMIM:602400
6768	ST14	HP:0008070	Sparse hair	HP:0040281	ORPHA:91132
6768	ST14	HP:0008070	Sparse hair	4/4	OMIM:602400
6768	ST14	HP:0008064	Ichthyosis	HP:0040281	ORPHA:91132
6768	ST14	HP:0001597	Abnormal nail morphology	0/1	OMIM:602400
6768	ST14	HP:0011082	Conical primary incisor	1/3	OMIM:602400
6768	ST14	HP:0007957	Corneal opacity	1/3	OMIM:602400
6768	ST14	HP:0000498	Blepharitis	1/1	OMIM:602400
6770	STAR	HP:0002445	Tetraplegia	HP:0040284	ORPHA:361
6770	STAR	HP:0001249	Intellectual disability	HP:0040284	ORPHA:361
6770	STAR	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:361
6770	STAR	HP:0007440	Generalized hyperpigmentation	HP:0040281	ORPHA:361
6770	STAR	HP:0031076	Impaired cortisol response to insulin stimulation test	HP:0040281	ORPHA:361
6770	STAR	HP:0000098	Tall stature	HP:0040283	ORPHA:361
6770	STAR	HP:0000047	Hypospadias	-	OMIM:201710
6770	STAR	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:361
6770	STAR	HP:0000027	Azoospermia	HP:0040284	ORPHA:361
6770	STAR	HP:0001325	Hypoglycemic coma	HP:0040284	ORPHA:361
6770	STAR	HP:0000010	Recurrent urinary tract infections	HP:0040284	ORPHA:361
6770	STAR	HP:0000007	Autosomal recessive inheritance	-	OMIM:201710
6770	STAR	HP:0002615	Hypotension	HP:0040281	ORPHA:361
6770	STAR	HP:0025451	Testicular adrenal rest tumor	HP:0040283	ORPHA:361
6770	STAR	HP:0000127	Renal salt wasting	-	OMIM:201710
6770	STAR	HP:0000127	Renal salt wasting	HP:0040282	ORPHA:361
6770	STAR	HP:0031214	Decreased circulating dehydroepiandrosterone concentration	HP:0040281	ORPHA:361
6770	STAR	HP:0002719	Recurrent infections	HP:0040282	ORPHA:361
6770	STAR	HP:0002019	Constipation	HP:0040282	ORPHA:361
6770	STAR	HP:0002014	Diarrhea	HP:0040282	ORPHA:361
6770	STAR	HP:0002013	Vomiting	HP:0040282	ORPHA:361
6770	STAR	HP:0002039	Anorexia	HP:0040282	ORPHA:361
6770	STAR	HP:0008163	Decreased circulating cortisol level	HP:0040280	ORPHA:361
6770	STAR	HP:0002153	Hyperkalemia	HP:0040282	ORPHA:361
6770	STAR	HP:0002173	Hypoglycemic seizures	HP:0040282	ORPHA:361
6770	STAR	HP:0008258	Congenital adrenal hyperplasia	-	OMIM:201710
6770	STAR	HP:0100618	Leydig cell neoplasia	HP:0040284	ORPHA:361
6770	STAR	HP:0012605	Hypernatriuria	HP:0040282	ORPHA:361
6770	STAR	HP:0004319	Decreased circulating aldosterone concentration	HP:0040283	ORPHA:361
6770	STAR	HP:0012734	Ketotic hypoglycemia	HP:0040281	ORPHA:361
6770	STAR	HP:0000851	Congenital hypothyroidism	HP:0040284	ORPHA:361
6770	STAR	HP:0000846	Adrenal insufficiency	HP:0040280	ORPHA:361
6770	STAR	HP:0000840	Adrenogenital syndrome	-	OMIM:201710
6770	STAR	HP:0000826	Precocious puberty	HP:0040283	ORPHA:361
6770	STAR	HP:0001508	Failure to thrive	HP:0040281	ORPHA:361
6770	STAR	HP:0011043	Abnormal circulating adrenocorticotropin concentration	HP:0040281	ORPHA:361
6770	STAR	HP:0002902	Hyponatremia	HP:0040282	ORPHA:361
6770	STAR	HP:0002960	Autoimmunity	-	ORPHA:361
6770	STAR	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:361
6770	STAR	HP:0012432	Chronic fatigue	HP:0040282	ORPHA:361
6770	STAR	HP:0001824	Weight loss	HP:0040282	ORPHA:361
6772	STAT1	HP:0032249	Coccidioidomycosis	2/5	OMIM:614162
6772	STAT1	HP:0032257	Disseminated histoplasmosis	3/5	OMIM:614162
6772	STAT1	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:391487
6772	STAT1	HP:0002576	Intussusception	2/5	OMIM:614162
6772	STAT1	HP:0010976	Decreased total B cell count	HP:0040282	ORPHA:391487
6772	STAT1	HP:0033608	Pulmonary nodule	1/5	OMIM:614162
6772	STAT1	HP:0003829	Typified by incomplete penetrance	-	OMIM:614892
6772	STAT1	HP:0001324	Muscle weakness	1/5	OMIM:614162
6772	STAT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613796
6772	STAT1	HP:0000009	Functional abnormality of the bladder	HP:0040281	ORPHA:391487
6772	STAT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614162
6772	STAT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614892
6772	STAT1	HP:0012182	Oropharyngeal squamous cell carcinoma	HP:0040283	ORPHA:391487
6772	STAT1	HP:0012163	Carotid artery dilatation	HP:0040282	ORPHA:391487
6772	STAT1	HP:0012115	Hepatitis	HP:0040283	ORPHA:391487
6772	STAT1	HP:0002788	Recurrent upper respiratory tract infections	HP:0040281	ORPHA:391487
6772	STAT1	HP:0002754	Osteomyelitis	1/5	OMIM:614162
6772	STAT1	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:391487
6772	STAT1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:391487
6772	STAT1	HP:0002719	Recurrent infections	1/5	OMIM:614162
6772	STAT1	HP:0002719	Recurrent infections	HP:0040282	ORPHA:391487
6772	STAT1	HP:0002716	Lymphadenopathy	2/5	OMIM:614162
6772	STAT1	HP:0002728	Chronic mucocutaneous candidiasis	HP:0040281	ORPHA:391487
6772	STAT1	HP:0002728	Chronic mucocutaneous candidiasis	-	OMIM:614162
6772	STAT1	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:391487
6772	STAT1	HP:0002721	Immunodeficiency	5/5	OMIM:614162
6772	STAT1	HP:0002721	Immunodeficiency	HP:0040282	ORPHA:391487
6772	STAT1	HP:0002721	Immunodeficiency	-	OMIM:614892
6772	STAT1	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	3/4	OMIM:614162
6772	STAT1	HP:0002014	Diarrhea	HP:0040283	OMIM:614162
6772	STAT1	HP:0002014	Diarrhea	HP:0040282	ORPHA:391487
6772	STAT1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:391487
6772	STAT1	HP:0002110	Bronchiectasis	1/5	OMIM:614162
6772	STAT1	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:391487
6772	STAT1	HP:0002243	Protein-losing enteropathy	2/5	OMIM:614162
6772	STAT1	HP:0002242	Abnormal intestine morphology	HP:0040281	ORPHA:391487
6772	STAT1	HP:0002240	Hepatomegaly	4/10	OMIM:614162
6772	STAT1	HP:0002205	Recurrent respiratory infections	-	OMIM:614162
6772	STAT1	HP:0032064	Gastrointestinal eosinophilia	1/5	OMIM:614162
6772	STAT1	HP:0020086	BCGitis	1/2	OMIM:614892
6772	STAT1	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:391487
6772	STAT1	HP:0100651	Type I diabetes mellitus	HP:0040282	ORPHA:391487
6772	STAT1	HP:0100646	Thyroiditis	HP:0040282	ORPHA:391487
6772	STAT1	HP:0004966	Medial calcification of large arteries	HP:0040283	ORPHA:391487
6772	STAT1	HP:0003621	Juvenile onset	2/5	OMIM:614162
6772	STAT1	HP:0003621	Juvenile onset	1/2	OMIM:614892
6772	STAT1	HP:0003613	Antiphospholipid antibody positivity	HP:0040283	ORPHA:391487
6772	STAT1	HP:0004944	Dilatation of the cerebral artery	HP:0040282	ORPHA:391487
6772	STAT1	HP:0009098	Chronic oral candidiasis	1/5	OMIM:614162
6772	STAT1	HP:0001973	Autoimmune thrombocytopenia	HP:0040283	ORPHA:391487
6772	STAT1	HP:0001945	Fever	2/5	OMIM:614162
6772	STAT1	HP:0001920	Renal artery stenosis	HP:0040282	ORPHA:391487
6772	STAT1	HP:0001904	Autoimmune neutropenia	HP:0040283	ORPHA:391487
6772	STAT1	HP:0004322	Short stature	HP:0040281	ORPHA:391487
6772	STAT1	HP:0004322	Short stature	HP:0040283	OMIM:614162
6772	STAT1	HP:0004387	Enterocolitis	HP:0040282	ORPHA:391487
6772	STAT1	HP:0012735	Cough	2/5	OMIM:614162
6772	STAT1	HP:0011473	Villous atrophy	HP:0040282	ORPHA:391487
6772	STAT1	HP:0011473	Villous atrophy	3/5	OMIM:614162
6772	STAT1	HP:0011459	Esophageal carcinoma	HP:0040283	ORPHA:391487
6772	STAT1	HP:0011463	Childhood onset	1/5	OMIM:614162
6772	STAT1	HP:0011463	Childhood onset	1/2	OMIM:614892
6772	STAT1	HP:0004429	Recurrent viral infections	-	OMIM:613796
6772	STAT1	HP:0004429	Recurrent viral infections	1/2	OMIM:614892
6772	STAT1	HP:0000832	Primary hypothyroidism	HP:0040282	ORPHA:391487
6772	STAT1	HP:0000819	Diabetes mellitus	HP:0040283	OMIM:614162
6772	STAT1	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:391487
6772	STAT1	HP:0000821	Hypothyroidism	HP:0040283	OMIM:614162
6772	STAT1	HP:0000823	Delayed puberty	HP:0040283	OMIM:614162
6772	STAT1	HP:0000823	Delayed puberty	HP:0040282	ORPHA:391487
6772	STAT1	HP:0003202	Skeletal muscle atrophy	1/5	OMIM:614162
6772	STAT1	HP:0000964	Eczematoid dermatitis	HP:0040283	OMIM:614162
6772	STAT1	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:391487
6772	STAT1	HP:0000938	Osteopenia	3/5	OMIM:614162
6772	STAT1	HP:0000938	Osteopenia	HP:0040282	ORPHA:391487
6772	STAT1	HP:0040160	Generalized osteoporosis	HP:0040282	ORPHA:391487
6772	STAT1	HP:0012203	Onychomycosis	1/5	OMIM:614162
6772	STAT1	HP:0012204	Recurrent vulvovaginal candidiasis	1/5	OMIM:614162
6772	STAT1	HP:0031382	Decreased anti-CD3/28-induced T-cell proliferation	2/2	OMIM:614162
6772	STAT1	HP:0001510	Growth delay	HP:0040283	OMIM:614162
6772	STAT1	HP:0001510	Growth delay	HP:0040281	ORPHA:391487
6772	STAT1	HP:0012378	Fatigue	1/5	OMIM:614162
6772	STAT1	HP:0012302	Herpes simplex encephalitis	-	OMIM:614892
6772	STAT1	HP:0012302	Herpes simplex encephalitis	-	OMIM:613796
6772	STAT1	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:391487
6772	STAT1	HP:0002958	Immune dysregulation	HP:0040282	ORPHA:391487
6772	STAT1	HP:0002958	Immune dysregulation	-	OMIM:614162
6772	STAT1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:391487
6772	STAT1	HP:0005353	Recurrent herpes	HP:0040282	ORPHA:391487
6772	STAT1	HP:0011123	Inflammatory abnormality of the skin	HP:0040282	ORPHA:391487
6772	STAT1	HP:0001744	Splenomegaly	4/10	OMIM:614162
6772	STAT1	HP:0025708	Early young adult onset	1/5	OMIM:614162
6772	STAT1	HP:0005403	Decreased total T cell count	-	ORPHA:391487
6772	STAT1	HP:0011275	Recurrent mycobacterium avium complex infections	1/2	OMIM:614892
6772	STAT1	HP:0011274	Recurrent mycobacterial infections	-	OMIM:613796
6772	STAT1	HP:0001824	Weight loss	2/5	OMIM:614162
6772	STAT1	HP:0030355	Abnormal circulating interferon-gamma concentration	HP:0040283	ORPHA:391487
6772	STAT1	HP:0001890	Autoimmune hemolytic anemia	HP:0040282	ORPHA:391487
6772	STAT1	HP:0001890	Autoimmune hemolytic anemia	1/5	OMIM:614162
6772	STAT1	HP:0001888	Decreased total lymphocyte count	-	OMIM:614162
6772	STAT1	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:391487
6772	STAT1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:391487
6773	STAT2	HP:0410242	Abnormal circulating IgG concentration	0/2	OMIM:616636
6773	STAT2	HP:0001298	Encephalopathy	HP:0040283	OMIM:616636
6773	STAT2	HP:0001250	Seizure	1/2	OMIM:618886
6773	STAT2	HP:0001263	Global developmental delay	2/2	OMIM:618886
6773	STAT2	HP:0002514	Cerebral calcification	3/3	OMIM:618886
6773	STAT2	HP:0002500	Abnormal cerebral white matter morphology	2/2	OMIM:618886
6773	STAT2	HP:0000093	Proteinuria	2/2	OMIM:618886
6773	STAT2	HP:0001342	Cerebral hemorrhage	2/2	OMIM:618886
6773	STAT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618886
6773	STAT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616636
6773	STAT2	HP:0001321	Cerebellar hypoplasia	1/2	OMIM:618886
6773	STAT2	HP:0002720	Decreased circulating IgA concentration	2/2	OMIM:616636
6773	STAT2	HP:0002093	Respiratory insufficiency	1/1	OMIM:618886
6773	STAT2	HP:0033106	Elevated circulating D-dimer concentration	2/2	OMIM:618886
6773	STAT2	HP:0002151	Increased circulating lactate concentration	1/2	OMIM:616636
6773	STAT2	HP:0002104	Apnea	2/2	OMIM:618886
6773	STAT2	HP:0003593	Infantile onset	1/3	OMIM:616636
6773	STAT2	HP:0020088	Post-vaccination measles	1/5	OMIM:616636
6773	STAT2	HP:0001974	Increased total leukocyte count	1/1	OMIM:618886
6773	STAT2	HP:0001954	Recurrent fever	1/2	OMIM:618886
6773	STAT2	HP:0001903	Anemia	1/1	OMIM:618886
6773	STAT2	HP:0001905	Congenital thrombocytopenia	1/2	OMIM:618886
6773	STAT2	HP:0001919	Acute kidney injury	1/2	OMIM:618886
6773	STAT2	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/2	OMIM:616636
6773	STAT2	HP:0011463	Childhood onset	2/5	OMIM:616636
6773	STAT2	HP:0000822	Hypertension	-	OMIM:618886
6773	STAT2	HP:0040204	Elevated CSF neopterin level	2/2	OMIM:616636
6773	STAT2	HP:0003281	Increased circulating ferritin concentration	-	OMIM:618886
6773	STAT2	HP:0001522	Death in infancy	2/2	OMIM:618886
6773	STAT2	HP:0002840	Lymphadenitis	1/1	OMIM:618886
6773	STAT2	HP:0002850	Decreased circulating total IgM	1/2	OMIM:616636
6773	STAT2	HP:0001622	Premature birth	2/2	OMIM:618886
6773	STAT2	HP:0001640	Cardiomegaly	1/1	OMIM:618886
6773	STAT2	HP:0031691	Severe viral infection	3/5	OMIM:616636
6773	STAT2	HP:0001888	Decreased total lymphocyte count	2/2	OMIM:616636
6774	STAT3	HP:0001114	Xanthelasma	HP:0040282	ORPHA:2314
6774	STAT3	HP:0010935	Abnormality of the upper urinary tract	HP:0040283	ORPHA:99885
6774	STAT3	HP:0410151	Eosinophilic infiltration of the esophagus	11/17	OMIM:147060
6774	STAT3	HP:0410147	Eosinophilic infiltration in the stomach mucosa	7/14	OMIM:147060
6774	STAT3	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:99885
6774	STAT3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6774	STAT3	HP:0001293	Cranial nerve compression	-	OMIM:131300
6774	STAT3	HP:0001270	Motor delay	HP:0040282	ORPHA:99885
6774	STAT3	HP:0100838	Recurrent cutaneous abscess formation	58/64	OMIM:147060
6774	STAT3	HP:0001252	Hypotonia	HP:0040283	ORPHA:99885
6774	STAT3	HP:0001252	Hypotonia	2/7	OMIM:615777
6774	STAT3	HP:0001251	Ataxia	HP:0040283	ORPHA:99885
6774	STAT3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:99885
6774	STAT3	HP:0001249	Intellectual disability	5/7	OMIM:615777
6774	STAT3	HP:0002594	Pancreatic hypoplasia	HP:0040283	ORPHA:99885
6774	STAT3	HP:0001263	Global developmental delay	HP:0040282	ORPHA:99885
6774	STAT3	HP:0001263	Global developmental delay	-	OMIM:615777
6774	STAT3	HP:0002592	Gastric ulcer	4/23	OMIM:147060
6774	STAT3	HP:0002588	Duodenal ulcer	3/23	OMIM:147060
6774	STAT3	HP:0001259	Coma	HP:0040283	ORPHA:99885
6774	STAT3	HP:0002571	Achalasia	1/13	OMIM:615952
6774	STAT3	HP:0031035	Chronic infection	HP:0040282	ORPHA:520
6774	STAT3	HP:0002515	Waddling gait	54/102	OMIM:131300
6774	STAT3	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:520
6774	STAT3	HP:0001382	Joint hypermobility	39/90	OMIM:147060
6774	STAT3	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:2314
6774	STAT3	HP:0001382	Joint hypermobility	-	OMIM:615777
6774	STAT3	HP:0001363	Craniosynostosis	HP:0040283	OMIM:147060
6774	STAT3	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:2314
6774	STAT3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6774	STAT3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6774	STAT3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6774	STAT3	HP:0001324	Muscle weakness	HP:0040282	ORPHA:520
6774	STAT3	HP:0001324	Muscle weakness	40/96	OMIM:131300
6774	STAT3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6774	STAT3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6774	STAT3	HP:0002665	Lymphoma	HP:0040283	ORPHA:2314
6774	STAT3	HP:0000006	Autosomal dominant inheritance	-	OMIM:615952
6774	STAT3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6774	STAT3	HP:0000006	Autosomal dominant inheritance	-	OMIM:147060
6774	STAT3	HP:0002653	Bone pain	HP:0040283	ORPHA:520
6774	STAT3	HP:0002650	Scoliosis	HP:0040282	ORPHA:2314
6774	STAT3	HP:0002650	Scoliosis	12/14	OMIM:131300
6774	STAT3	HP:0002650	Scoliosis	17/85	OMIM:147060
6774	STAT3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6774	STAT3	HP:0002617	Vascular dilatation	HP:0040283	ORPHA:2314
6774	STAT3	HP:0032445	Pulmonary cyst	47/63	OMIM:147060
6774	STAT3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6774	STAT3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6774	STAT3	HP:0031141	Increased hepatic echogenicity	6/25	OMIM:147060
6774	STAT3	HP:0002608	Celiac disease	2/5	OMIM:615952
6774	STAT3	HP:0012189	Hodgkin lymphoma	1/13	OMIM:615952
6774	STAT3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6774	STAT3	HP:0000164	Abnormality of the dentition	2/5	OMIM:615952
6774	STAT3	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:2314
6774	STAT3	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:99885
6774	STAT3	HP:0000175	Cleft palate	HP:0040282	ORPHA:2314
6774	STAT3	HP:0000175	Cleft palate	2/7	OMIM:615777
6774	STAT3	HP:0006335	Persistence of primary teeth	47/63	OMIM:147060
6774	STAT3	HP:0031292	Cutaneous abscess	29/35	OMIM:147060
6774	STAT3	HP:0031292	Cutaneous abscess	HP:0040282	ORPHA:2314
6774	STAT3	HP:0006274	Reduced pancreatic beta cells	HP:0040281	ORPHA:99885
6774	STAT3	HP:0002783	Recurrent lower respiratory tract infections	1/5	OMIM:615952
6774	STAT3	HP:0025420	Diffuse alveolar hemorrhage	HP:0040283	ORPHA:520
6774	STAT3	HP:0033842	Early satiety	7/70	OMIM:147060
6774	STAT3	HP:0025419	Pulmonary pneumatocele	HP:0040282	ORPHA:2314
6774	STAT3	HP:0002788	Recurrent upper respiratory tract infections	1/5	OMIM:615952
6774	STAT3	HP:0002788	Recurrent upper respiratory tract infections	27/59	OMIM:147060
6774	STAT3	HP:0000124	Renal tubular dysfunction	HP:0040283	ORPHA:99885
6774	STAT3	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:2314
6774	STAT3	HP:0002757	Recurrent fractures	27/59	OMIM:147060
6774	STAT3	HP:0002754	Osteomyelitis	HP:0040283	ORPHA:2314
6774	STAT3	HP:0001433	Hepatosplenomegaly	9/13	OMIM:615952
6774	STAT3	HP:0031245	Productive cough	HP:0040283	ORPHA:520
6774	STAT3	HP:0002719	Recurrent infections	HP:0040281	ORPHA:2314
6774	STAT3	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:520
6774	STAT3	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:99885
6774	STAT3	HP:0002728	Chronic mucocutaneous candidiasis	HP:0040282	ORPHA:2314
6774	STAT3	HP:0002728	Chronic mucocutaneous candidiasis	17/35	OMIM:147060
6774	STAT3	HP:0002726	Recurrent Staphylococcus aureus infections	-	OMIM:147060
6774	STAT3	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040282	ORPHA:2314
6774	STAT3	HP:0002020	Gastroesophageal reflux	29/70	OMIM:147060
6774	STAT3	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2314
6774	STAT3	HP:0002018	Nausea	13/70	OMIM:147060
6774	STAT3	HP:0002019	Constipation	10/70	OMIM:147060
6774	STAT3	HP:0002035	Rectal prolapse	2/70	OMIM:147060
6774	STAT3	HP:0002027	Abdominal pain	17/70	OMIM:147060
6774	STAT3	HP:0002027	Abdominal pain	HP:0040283	ORPHA:520
6774	STAT3	HP:0002014	Diarrhea	5/70	OMIM:147060
6774	STAT3	HP:0002015	Dysphagia	22/70	OMIM:147060
6774	STAT3	HP:0002007	Frontal bossing	-	OMIM:147060
6774	STAT3	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:99885
6774	STAT3	HP:0002043	Esophageal stricture	2/23	OMIM:147060
6774	STAT3	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:520
6774	STAT3	HP:0002039	Anorexia	HP:0040282	ORPHA:520
6774	STAT3	HP:0003388	Easy fatigability	36/76	OMIM:131300
6774	STAT3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6774	STAT3	HP:0005942	Desquamative interstitial pneumonitis	1/5	OMIM:615952
6774	STAT3	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:99885
6774	STAT3	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:99885
6774	STAT3	HP:0004791	Esophageal ulceration	6/23	OMIM:147060
6774	STAT3	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:2314
6774	STAT3	HP:0011919	Pleural empyema	3/27	OMIM:147060
6774	STAT3	HP:0011900	Hypofibrinogenemia	HP:0040283	ORPHA:520
6774	STAT3	HP:0002186	Apraxia	HP:0040283	ORPHA:99885
6774	STAT3	HP:0003593	Infantile onset	5/16	OMIM:615952
6774	STAT3	HP:0003593	Infantile onset	-	OMIM:147060
6774	STAT3	HP:0002242	Abnormal intestine morphology	5/13	OMIM:615952
6774	STAT3	HP:0002253	Colonic diverticula	2/70	OMIM:147060
6774	STAT3	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:2314
6774	STAT3	HP:0100750	Atelectasis	HP:0040281	ORPHA:2314
6774	STAT3	HP:0100749	Chest pain	6/70	OMIM:147060
6774	STAT3	HP:0100758	Gangrene	HP:0040284	ORPHA:520
6774	STAT3	HP:0033351	Candida esophagitis	4/70	OMIM:147060
6774	STAT3	HP:0032043	Odynophagia	4/70	OMIM:147060
6774	STAT3	HP:0003510	Severe short stature	7/7	OMIM:615777
6774	STAT3	HP:0007099	Chiari type I malformation	HP:0040283	ORPHA:2314
6774	STAT3	HP:0008391	Dystrophic fingernails	HP:0040282	ORPHA:2314
6774	STAT3	HP:0002321	Vertigo	HP:0040282	ORPHA:520
6774	STAT3	HP:0002315	Headache	-	OMIM:131300
6774	STAT3	HP:0004976	Knee dislocation	6/7	OMIM:615777
6774	STAT3	HP:0100651	Type I diabetes mellitus	2/13	OMIM:615952
6774	STAT3	HP:0100658	Cellulitis	HP:0040283	ORPHA:2314
6774	STAT3	HP:0200037	Skin vesicle	HP:0040283	ORPHA:2314
6774	STAT3	HP:0200034	Papule	HP:0040282	ORPHA:2314
6774	STAT3	HP:0100608	Metrorrhagia	HP:0040284	ORPHA:520
6774	STAT3	HP:0100628	Esophageal diverticulum	2/23	OMIM:147060
6774	STAT3	HP:0009803	Short phalanx of finger	-	OMIM:615777
6774	STAT3	HP:0200042	Skin ulcer	HP:0040281	ORPHA:2314
6774	STAT3	HP:0010783	Erythema	-	OMIM:147060
6774	STAT3	HP:0009763	Limb pain	63/92	OMIM:131300
6774	STAT3	HP:0003623	Neonatal onset	3/5	OMIM:615952
6774	STAT3	HP:0003621	Juvenile onset	-	OMIM:131300
6774	STAT3	HP:0003621	Juvenile onset	4/13	OMIM:615952
6774	STAT3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6774	STAT3	HP:0031858	Esophageal furrows	1/23	OMIM:147060
6774	STAT3	HP:0005521	Disseminated intravascular coagulation	HP:0040282	ORPHA:520
6774	STAT3	HP:0009098	Chronic oral candidiasis	25/58	OMIM:147060
6774	STAT3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6774	STAT3	HP:6001056	Out-toeing	-	OMIM:131300
6774	STAT3	HP:0000651	Diplopia	-	OMIM:131300
6774	STAT3	HP:0001973	Autoimmune thrombocytopenia	7/13	OMIM:615952
6774	STAT3	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:520
6774	STAT3	HP:0001944	Dehydration	HP:0040281	ORPHA:99885
6774	STAT3	HP:0001945	Fever	HP:0040282	ORPHA:520
6774	STAT3	HP:0001945	Fever	HP:0040283	ORPHA:2314
6774	STAT3	HP:0001956	Truncal obesity	2/7	OMIM:615777
6774	STAT3	HP:0001904	Autoimmune neutropenia	6/13	OMIM:615952
6774	STAT3	HP:0001903	Anemia	HP:0040282	ORPHA:520
6774	STAT3	HP:0001903	Anemia	HP:0040283	OMIM:131300
6774	STAT3	HP:0010049	Short metacarpal	-	OMIM:615777
6774	STAT3	HP:0011354	Generalized abnormality of skin	HP:0040281	ORPHA:2314
6774	STAT3	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:2314
6774	STAT3	HP:0000678	Dental crowding	-	OMIM:615777
6774	STAT3	HP:0000670	Carious teeth	-	OMIM:131300
6774	STAT3	HP:0011304	Broad thumb	2/7	OMIM:615777
6774	STAT3	HP:0000668	Hypodontia	-	OMIM:615777
6774	STAT3	HP:0000664	Synophrys	-	OMIM:615777
6774	STAT3	HP:0004322	Short stature	12/16	OMIM:615952
6774	STAT3	HP:0004313	Decreased circulating immunoglobulin concentration	4/13	OMIM:615952
6774	STAT3	HP:0031984	Esophageal food impaction	9/70	OMIM:147060
6774	STAT3	HP:0003076	Glycosuria	HP:0040281	ORPHA:99885
6774	STAT3	HP:0003074	Hyperglycemia	HP:0040281	ORPHA:99885
6774	STAT3	HP:0004396	Poor appetite	-	OMIM:131300
6774	STAT3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6774	STAT3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6774	STAT3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6774	STAT3	HP:0003026	Short long bone	7/7	OMIM:615777
6774	STAT3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6774	STAT3	HP:0012735	Cough	HP:0040282	ORPHA:2314
6774	STAT3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6774	STAT3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6774	STAT3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6774	STAT3	HP:0000750	Delayed speech and language development	-	OMIM:615777
6774	STAT3	HP:0000703	Dentinogenesis imperfecta	HP:0040282	ORPHA:2314
6774	STAT3	HP:0011463	Childhood onset	7/16	OMIM:615952
6774	STAT3	HP:0011461	Fetal onset	7/7	OMIM:615777
6774	STAT3	HP:0000774	Narrow chest	2/7	OMIM:615777
6774	STAT3	HP:0000790	Hematuria	HP:0040284	ORPHA:520
6774	STAT3	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:99885
6774	STAT3	HP:0005750	Lower-limb joint contracture	HP:0040282	ORPHA:99885
6774	STAT3	HP:0005764	Polyarticular arthritis	2/13	OMIM:615952
6774	STAT3	HP:0000926	Platyspondyly	1/7	OMIM:615777
6774	STAT3	HP:0003180	Flat acetabular roof	-	OMIM:615777
6774	STAT3	HP:0004482	Relative macrocephaly	-	OMIM:615777
6774	STAT3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6774	STAT3	HP:0000857	Neonatal insulin-dependent diabetes mellitus	HP:0040281	ORPHA:99885
6774	STAT3	HP:0000821	Hypothyroidism	3/18	OMIM:615952
6774	STAT3	HP:0000823	Delayed puberty	-	OMIM:131300
6774	STAT3	HP:0000823	Delayed puberty	1/5	OMIM:615952
6774	STAT3	HP:0010280	Stomatitis	HP:0040283	ORPHA:520
6774	STAT3	HP:0000894	Short clavicles	-	OMIM:615777
6774	STAT3	HP:0003212	Increased circulating IgE concentration	99/105	OMIM:147060
6774	STAT3	HP:0003212	Increased circulating IgE concentration	HP:0040281	ORPHA:2314
6774	STAT3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6774	STAT3	HP:0000979	Purpura	HP:0040282	ORPHA:520
6774	STAT3	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:520
6774	STAT3	HP:0000989	Pruritus	HP:0040281	ORPHA:2314
6774	STAT3	HP:0000988	Skin rash	HP:0040281	ORPHA:2314
6774	STAT3	HP:0000988	Skin rash	37/57	OMIM:147060
6774	STAT3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6774	STAT3	HP:0000964	Eczematoid dermatitis	HP:0040281	ORPHA:2314
6774	STAT3	HP:0000964	Eczematoid dermatitis	2/5	OMIM:615952
6774	STAT3	HP:0000964	Eczematoid dermatitis	76/99	OMIM:147060
6774	STAT3	HP:0000967	Petechiae	HP:0040282	ORPHA:520
6774	STAT3	HP:0000939	Osteoporosis	HP:0040282	ORPHA:2314
6774	STAT3	HP:0000938	Osteopenia	-	OMIM:147060
6774	STAT3	HP:0000938	Osteopenia	HP:0040282	ORPHA:2314
6774	STAT3	HP:0000286	Epicanthus	1/7	OMIM:615777
6774	STAT3	HP:0000280	Coarse facial features	-	OMIM:147060
6774	STAT3	HP:0000280	Coarse facial features	2/7	OMIM:615777
6774	STAT3	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:2314
6774	STAT3	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:2314
6774	STAT3	HP:0030057	Autoimmune antibody positivity	-	ORPHA:99885
6774	STAT3	HP:0002827	Hip dislocation	3/7	OMIM:615777
6774	STAT3	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:99885
6774	STAT3	HP:0000252	Microcephaly	-	OMIM:615777
6774	STAT3	HP:0000218	High palate	31/61	OMIM:147060
6774	STAT3	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:520
6774	STAT3	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:520
6774	STAT3	HP:0000230	Gingivitis	HP:0040282	ORPHA:2314
6774	STAT3	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:520
6774	STAT3	HP:0002857	Genu valgum	-	OMIM:131300
6774	STAT3	HP:0001533	Slender build	-	OMIM:131300
6774	STAT3	HP:0031364	Ecchymosis	HP:0040282	ORPHA:520
6774	STAT3	HP:0031368	Intestinal perforation	4/70	OMIM:147060
6774	STAT3	HP:0001508	Failure to thrive	HP:0040281	ORPHA:99885
6774	STAT3	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:99885
6774	STAT3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6774	STAT3	HP:0002841	Recurrent fungal infections	-	OMIM:147060
6774	STAT3	HP:0007807	Optic nerve compression	-	OMIM:131300
6774	STAT3	HP:0012378	Fatigue	HP:0040282	ORPHA:520
6774	STAT3	HP:0012368	Flat face	7/7	OMIM:615777
6774	STAT3	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:2314
6774	STAT3	HP:0006532	Recurrent pneumonia	HP:0040282	ORPHA:2314
6774	STAT3	HP:0006532	Recurrent pneumonia	68/72	OMIM:147060
6774	STAT3	HP:0006515	Interstitial pneumonitis	3/13	OMIM:615952
6774	STAT3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6774	STAT3	HP:0002919	Ketonuria	HP:0040282	ORPHA:99885
6774	STAT3	HP:0000365	Hearing impairment	HP:0040283	ORPHA:99885
6774	STAT3	HP:0000365	Hearing impairment	10/67	OMIM:131300
6774	STAT3	HP:0000343	Long philtrum	1/7	OMIM:615777
6774	STAT3	HP:0011001	Increased bone mineral density	-	OMIM:131300
6774	STAT3	HP:0000316	Hypertelorism	-	OMIM:147060
6774	STAT3	HP:0030140	Oral cavity bleeding	HP:0040283	ORPHA:520
6774	STAT3	HP:0000311	Round face	2/7	OMIM:615777
6774	STAT3	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:2314
6774	STAT3	HP:0002960	Autoimmunity	-	OMIM:615952
6774	STAT3	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:99885
6774	STAT3	HP:0002970	Genu varum	-	OMIM:615777
6774	STAT3	HP:0000303	Mandibular prognathia	-	OMIM:131300
6774	STAT3	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:2314
6774	STAT3	HP:0001738	Exocrine pancreatic insufficiency	2/5	OMIM:615952
6774	STAT3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6774	STAT3	HP:0000490	Deeply set eye	HP:0040282	ORPHA:2314
6774	STAT3	HP:0000488	Retinopathy	HP:0040282	ORPHA:99885
6774	STAT3	HP:0000470	Short neck	1/7	OMIM:615777
6774	STAT3	HP:0011106	Hypovolemia	HP:0040281	ORPHA:99885
6774	STAT3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6774	STAT3	HP:0001763	Pes planus	1/7	OMIM:615777
6774	STAT3	HP:0000445	Wide nose	8/8	OMIM:147060
6774	STAT3	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:2314
6774	STAT3	HP:0000421	Epistaxis	HP:0040282	ORPHA:520
6774	STAT3	HP:0005425	Recurrent sinopulmonary infections	-	OMIM:147060
6774	STAT3	HP:0005487	Prominent metopic ridge	HP:0040282	ORPHA:99885
6774	STAT3	HP:0001840	Metatarsus adductus	-	OMIM:615777
6774	STAT3	HP:0000520	Proptosis	2/4	OMIM:131300
6774	STAT3	HP:0000520	Proptosis	7/7	OMIM:615777
6774	STAT3	HP:0001824	Weight loss	HP:0040281	ORPHA:99885
6774	STAT3	HP:0001824	Weight loss	HP:0040282	ORPHA:520
6774	STAT3	HP:0001818	Paronychia	HP:0040282	ORPHA:2314
6774	STAT3	HP:0012594	Moderate albuminuria	HP:0040282	ORPHA:99885
6774	STAT3	HP:0031690	Opportunistic infection	HP:0040282	ORPHA:2314
6774	STAT3	HP:0000592	Blue sclerae	2/7	OMIM:615777
6774	STAT3	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:520
6774	STAT3	HP:0001890	Autoimmune hemolytic anemia	11/13	OMIM:615952
6774	STAT3	HP:0011220	Prominent forehead	-	OMIM:147060
6774	STAT3	HP:0011220	Prominent forehead	HP:0040282	ORPHA:2314
6774	STAT3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6774	STAT3	HP:0001880	Increased total eosinophil count	0/3	OMIM:615952
6774	STAT3	HP:0001880	Increased total eosinophil count	65/93	OMIM:147060
6774	STAT3	HP:0001880	Increased total eosinophil count	HP:0040282	ORPHA:2314
6774	STAT3	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:520
6774	STAT3	HP:0012514	Lower limb pain	4/4	OMIM:131300
6774	STAT3	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:520
6774	STAT3	HP:0001876	Pancytopenia	HP:0040282	ORPHA:520
6774	STAT3	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:520
6775	STAT4	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:85408
6775	STAT4	HP:0002463	Language impairment	HP:0040284	ORPHA:93552
6775	STAT4	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
6775	STAT4	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:117
6775	STAT4	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:117
6775	STAT4	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
6775	STAT4	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:117
6775	STAT4	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
6775	STAT4	HP:0001269	Hemiparesis	HP:0040282	ORPHA:117
6775	STAT4	HP:0001287	Meningitis	HP:0040281	ORPHA:117
6775	STAT4	HP:0001289	Confusion	HP:0040282	ORPHA:117
6775	STAT4	HP:0001288	Gait disturbance	HP:0040282	ORPHA:117
6775	STAT4	HP:0001250	Seizure	HP:0040283	ORPHA:117
6775	STAT4	HP:0001250	Seizure	HP:0040283	ORPHA:536
6775	STAT4	HP:0001250	Seizure	HP:0040283	ORPHA:93552
6775	STAT4	HP:0001251	Ataxia	HP:0040283	ORPHA:117
6775	STAT4	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:93552
6775	STAT4	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
6775	STAT4	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:117
6775	STAT4	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:117
6775	STAT4	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:93552
6775	STAT4	HP:0000099	Glomerulonephritis	HP:0040284	ORPHA:117
6775	STAT4	HP:0000093	Proteinuria	HP:0040282	ORPHA:93552
6775	STAT4	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
6775	STAT4	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:93552
6775	STAT4	HP:0001371	Flexion contracture	HP:0040283	ORPHA:85408
6775	STAT4	HP:0001370	Rheumatoid arthritis	HP:0040283	ORPHA:85410
6775	STAT4	HP:0025343	Lupus anticoagulant	HP:0040283	ORPHA:93552
6775	STAT4	HP:0001369	Arthritis	HP:0040281	ORPHA:85410
6775	STAT4	HP:0001369	Arthritis	HP:0040283	ORPHA:93552
6775	STAT4	HP:0001369	Arthritis	HP:0040282	ORPHA:85408
6775	STAT4	HP:0001369	Arthritis	HP:0040282	ORPHA:536
6775	STAT4	HP:0001369	Arthritis	HP:0040281	ORPHA:117
6775	STAT4	HP:0001386	Joint swelling	HP:0040282	ORPHA:85408
6775	STAT4	HP:0001387	Joint stiffness	HP:0040282	ORPHA:85408
6775	STAT4	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:85410
6775	STAT4	HP:0001384	Abnormal hip joint morphology	HP:0040283	ORPHA:85408
6775	STAT4	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:117
6775	STAT4	HP:0000031	Epididymitis	HP:0040283	ORPHA:117
6775	STAT4	HP:0033834	Malaise	HP:0040281	ORPHA:536
6775	STAT4	HP:0008850	Severe postnatal growth retardation	HP:0040283	ORPHA:85410
6775	STAT4	HP:0008843	Hip osteoarthritis	HP:0040283	ORPHA:85408
6775	STAT4	HP:0012085	Pyuria	HP:0040282	ORPHA:536
6775	STAT4	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
6775	STAT4	HP:0025300	Malar rash	HP:0040283	ORPHA:93552
6775	STAT4	HP:0025300	Malar rash	HP:0040282	ORPHA:536
6775	STAT4	HP:0001324	Muscle weakness	HP:0040283	ORPHA:93552
6775	STAT4	HP:0000006	Autosomal dominant inheritance	-	OMIM:620443
6775	STAT4	HP:0002638	Superficial thrombophlebitis	HP:0040282	ORPHA:117
6775	STAT4	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:117
6775	STAT4	HP:0002633	Vasculitis	HP:0040281	ORPHA:117
6775	STAT4	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:93552
6775	STAT4	HP:0000155	Oral ulcer	HP:0040283	ORPHA:93552
6775	STAT4	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
6775	STAT4	HP:0000155	Oral ulcer	4/4	OMIM:620443
6775	STAT4	HP:0000155	Oral ulcer	HP:0040281	ORPHA:117
6775	STAT4	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:117
6775	STAT4	HP:0012121	Panuveitis	HP:0040282	ORPHA:117
6775	STAT4	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:85410
6775	STAT4	HP:0000123	Nephritis	HP:0040282	ORPHA:93552
6775	STAT4	HP:0000100	Nephrotic syndrome	HP:0040282	ORPHA:93552
6775	STAT4	HP:0001433	Hepatosplenomegaly	HP:0040284	ORPHA:85408
6775	STAT4	HP:0002719	Recurrent infections	2/4	OMIM:620443
6775	STAT4	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:85408
6775	STAT4	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:117
6775	STAT4	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:93552
6775	STAT4	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
6775	STAT4	HP:0002725	Systemic lupus erythematosus	HP:0040283	ORPHA:93552
6775	STAT4	HP:0002024	Malabsorption	HP:0040283	ORPHA:117
6775	STAT4	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:117
6775	STAT4	HP:0002027	Abdominal pain	HP:0040282	ORPHA:117
6775	STAT4	HP:0002027	Abdominal pain	HP:0040283	ORPHA:93552
6775	STAT4	HP:0040313	Oligoarthritis	HP:0040283	ORPHA:85408
6775	STAT4	HP:0040313	Oligoarthritis	HP:0040281	ORPHA:85410
6775	STAT4	HP:0040319	Dark urine	HP:0040283	ORPHA:93552
6775	STAT4	HP:0003326	Myalgia	HP:0040283	ORPHA:85408
6775	STAT4	HP:0003326	Myalgia	HP:0040281	ORPHA:117
6775	STAT4	HP:0002014	Diarrhea	HP:0040284	ORPHA:117
6775	STAT4	HP:0002014	Diarrhea	HP:0040284	ORPHA:93552
6775	STAT4	HP:0002013	Vomiting	HP:0040283	ORPHA:93552
6775	STAT4	HP:0003319	Abnormality of the cervical spine	HP:0040283	ORPHA:85408
6775	STAT4	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:93552
6775	STAT4	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:93552
6775	STAT4	HP:0002094	Dyspnea	HP:0040283	ORPHA:93552
6775	STAT4	HP:0002076	Migraine	HP:0040281	ORPHA:117
6775	STAT4	HP:0002072	Chorea	HP:0040284	ORPHA:536
6775	STAT4	HP:0002039	Anorexia	HP:0040281	ORPHA:536
6775	STAT4	HP:0002039	Anorexia	HP:0040283	ORPHA:117
6775	STAT4	HP:0100584	Endocarditis	HP:0040283	ORPHA:117
6775	STAT4	HP:0003453	Antineutrophil antibody positivity	HP:0040284	ORPHA:93552
6775	STAT4	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
6775	STAT4	HP:0002102	Pleuritis	HP:0040283	ORPHA:117
6775	STAT4	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:117
6775	STAT4	HP:0002105	Hemoptysis	HP:0040283	ORPHA:117
6775	STAT4	HP:0011911	Abnormal metacarpophalangeal joint morphology	HP:0040283	ORPHA:85408
6775	STAT4	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:85410
6775	STAT4	HP:0003493	Antinuclear antibody positivity	HP:0040282	ORPHA:93552
6775	STAT4	HP:0003493	Antinuclear antibody positivity	HP:0040283	ORPHA:85408
6775	STAT4	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
6775	STAT4	HP:0003401	Paresthesia	HP:0040283	ORPHA:117
6775	STAT4	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:117
6775	STAT4	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:85410
6775	STAT4	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040281	ORPHA:93552
6775	STAT4	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:85408
6775	STAT4	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:117
6775	STAT4	HP:0002202	Pleural effusion	HP:0040282	ORPHA:93552
6775	STAT4	HP:0002202	Pleural effusion	HP:0040283	ORPHA:117
6775	STAT4	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:117
6775	STAT4	HP:0100769	Synovitis	HP:0040282	ORPHA:85408
6775	STAT4	HP:0100796	Orchitis	HP:0040281	ORPHA:117
6775	STAT4	HP:0100749	Chest pain	HP:0040284	ORPHA:93552
6775	STAT4	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
6775	STAT4	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
6775	STAT4	HP:0100758	Gangrene	HP:0040283	ORPHA:117
6775	STAT4	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:117
6775	STAT4	HP:0001061	Acne	HP:0040282	ORPHA:117
6775	STAT4	HP:0002376	Developmental regression	HP:0040283	ORPHA:117
6775	STAT4	HP:0002354	Memory impairment	HP:0040283	ORPHA:117
6775	STAT4	HP:0002321	Vertigo	HP:0040283	ORPHA:117
6775	STAT4	HP:0002315	Headache	HP:0040282	ORPHA:117
6775	STAT4	HP:0002315	Headache	HP:0040283	ORPHA:93552
6775	STAT4	HP:0100653	Optic neuritis	HP:0040283	ORPHA:117
6775	STAT4	HP:0100654	Retrobulbar optic neuritis	HP:0040283	ORPHA:117
6775	STAT4	HP:0200034	Papule	HP:0040281	ORPHA:117
6775	STAT4	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
6775	STAT4	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:117
6775	STAT4	HP:0001094	Iridocyclitis	HP:0040284	ORPHA:85408
6775	STAT4	HP:0100614	Myositis	HP:0040284	ORPHA:93552
6775	STAT4	HP:0100614	Myositis	HP:0040283	ORPHA:117
6775	STAT4	HP:0200039	Pustule	HP:0040282	ORPHA:117
6775	STAT4	HP:0200042	Skin ulcer	4/4	OMIM:620443
6775	STAT4	HP:0100686	Enthesitis	HP:0040282	ORPHA:85408
6775	STAT4	HP:0010754	Abnormality of the temporomandibular joint	HP:0040283	ORPHA:85408
6775	STAT4	HP:0002301	Hemiplegia	HP:0040283	ORPHA:93552
6775	STAT4	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:117
6775	STAT4	HP:0003613	Antiphospholipid antibody positivity	HP:0040282	ORPHA:93552
6775	STAT4	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
6775	STAT4	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:117
6775	STAT4	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:117
6775	STAT4	HP:4000041	AA amyloidosis	HP:0040283	ORPHA:117
6775	STAT4	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
6775	STAT4	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
6775	STAT4	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
6775	STAT4	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
6775	STAT4	HP:0000618	Blindness	HP:0040283	ORPHA:117
6775	STAT4	HP:0000613	Photophobia	HP:0040281	ORPHA:117
6775	STAT4	HP:0001945	Fever	HP:0040281	ORPHA:117
6775	STAT4	HP:0001945	Fever	HP:0040281	ORPHA:536
6775	STAT4	HP:0001945	Fever	HP:0040282	ORPHA:93552
6775	STAT4	HP:0001954	Recurrent fever	HP:0040283	ORPHA:117
6775	STAT4	HP:0001937	Microangiopathic hemolytic anemia	HP:0040282	ORPHA:93552
6775	STAT4	HP:0001903	Anemia	HP:0040283	ORPHA:85408
6775	STAT4	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:117
6775	STAT4	HP:0003028	Abnormality of the ankle	HP:0040282	ORPHA:85410
6775	STAT4	HP:0003043	Abnormal shoulder morphology	HP:0040283	ORPHA:85408
6775	STAT4	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:93552
6775	STAT4	HP:0003019	Abnormality of the wrist	HP:0040282	ORPHA:85408
6775	STAT4	HP:0000737	Irritability	HP:0040283	ORPHA:117
6775	STAT4	HP:0000716	Depression	HP:0040283	ORPHA:536
6775	STAT4	HP:0000709	Psychosis	HP:0040283	ORPHA:93552
6775	STAT4	HP:0000708	Atypical behavior	HP:0040283	ORPHA:117
6775	STAT4	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:93552
6775	STAT4	HP:0011463	Childhood onset	4/4	OMIM:620443
6775	STAT4	HP:0000790	Hematuria	HP:0040282	ORPHA:93552
6775	STAT4	HP:0000790	Hematuria	HP:0040282	ORPHA:536
6775	STAT4	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:117
6775	STAT4	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
6775	STAT4	HP:0100326	Immunologic hypersensitivity	HP:0040282	ORPHA:117
6775	STAT4	HP:0012819	Myocarditis	HP:0040283	ORPHA:117
6775	STAT4	HP:0000822	Hypertension	HP:0040282	ORPHA:536
6775	STAT4	HP:0030880	Raynaud phenomenon	HP:0040284	ORPHA:93552
6775	STAT4	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
6775	STAT4	HP:0045042	Decreased circulating complement C4 concentration	HP:0040281	ORPHA:93552
6775	STAT4	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
6775	STAT4	HP:0034392	Joint contracture	3/4	OMIM:620443
6775	STAT4	HP:0003270	Abdominal distention	HP:0040283	ORPHA:93552
6775	STAT4	HP:0045073	Serositis	HP:0040283	ORPHA:536
6775	STAT4	HP:0003249	Genital ulcers	HP:0040282	ORPHA:117
6775	STAT4	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
6775	STAT4	HP:0000988	Skin rash	HP:0040282	ORPHA:93552
6775	STAT4	HP:0000951	Abnormality of the skin	HP:0040282	ORPHA:93552
6775	STAT4	HP:0000969	Edema	HP:0040282	ORPHA:93552
6775	STAT4	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
6775	STAT4	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
6775	STAT4	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:117
6775	STAT4	HP:0001596	Alopecia	HP:0040284	ORPHA:93552
6775	STAT4	HP:0001596	Alopecia	HP:0040282	ORPHA:536
6775	STAT4	HP:0002829	Arthralgia	HP:0040282	ORPHA:85408
6775	STAT4	HP:0002829	Arthralgia	HP:0040282	ORPHA:117
6775	STAT4	HP:0002829	Arthralgia	HP:0040283	ORPHA:93552
6775	STAT4	HP:0005086	Knee osteoarthritis	HP:0040282	ORPHA:85408
6775	STAT4	HP:0005086	Knee osteoarthritis	HP:0040282	ORPHA:85410
6775	STAT4	HP:0025532	Positive pathergy test	HP:0040282	ORPHA:117
6775	STAT4	HP:0012219	Erythema nodosum	HP:0040282	ORPHA:117
6775	STAT4	HP:0001530	Mild postnatal growth retardation	HP:0040283	ORPHA:85408
6775	STAT4	HP:0001541	Ascites	HP:0040283	ORPHA:93552
6775	STAT4	HP:0001508	Failure to thrive	HP:0040282	ORPHA:85410
6775	STAT4	HP:0007833	Anterior chamber synechiae	HP:0040283	ORPHA:85410
6775	STAT4	HP:0007813	Nongranulomatous uveitis	HP:0040282	ORPHA:117
6775	STAT4	HP:0012378	Fatigue	HP:0040281	ORPHA:117
6775	STAT4	HP:0012378	Fatigue	HP:0040281	ORPHA:536
6775	STAT4	HP:0005186	Synovial lining hyperplasia	HP:0040282	ORPHA:85408
6775	STAT4	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040282	ORPHA:93552
6775	STAT4	HP:0012344	Morphea	4/4	OMIM:620443
6775	STAT4	HP:0001698	Pericardial effusion	HP:0040282	ORPHA:93552
6775	STAT4	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:117
6775	STAT4	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:117
6775	STAT4	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:117
6775	STAT4	HP:0002960	Autoimmunity	HP:0040282	ORPHA:85410
6775	STAT4	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:117
6775	STAT4	HP:0001733	Pancreatitis	HP:0040283	ORPHA:117
6775	STAT4	HP:0001701	Pericarditis	HP:0040283	ORPHA:117
6775	STAT4	HP:0011134	Low-grade fever	HP:0040283	ORPHA:85408
6775	STAT4	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
6775	STAT4	HP:0000488	Retinopathy	HP:0040283	ORPHA:117
6775	STAT4	HP:0011117	Abnormal circulating interleukin concentration	HP:0040282	ORPHA:85410
6775	STAT4	HP:0001785	Ankle swelling	HP:0040282	ORPHA:85408
6775	STAT4	HP:0011107	Recurrent aphthous stomatitis	HP:0040281	ORPHA:117
6775	STAT4	HP:0001744	Splenomegaly	HP:0040283	ORPHA:117
6775	STAT4	HP:0006739	Squamous cell carcinoma of the skin	1/4	OMIM:620443
6775	STAT4	HP:0005421	Decreased circulating complement C3 concentration	HP:0040281	ORPHA:93552
6775	STAT4	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
6775	STAT4	HP:0000518	Cataract	HP:0040283	ORPHA:117
6775	STAT4	HP:0000518	Cataract	HP:0040284	ORPHA:85410
6775	STAT4	HP:0001824	Weight loss	HP:0040283	ORPHA:85408
6775	STAT4	HP:0001824	Weight loss	HP:0040283	ORPHA:117
6775	STAT4	HP:0001824	Weight loss	HP:0040281	ORPHA:536
6775	STAT4	HP:0001832	Abnormal metatarsal morphology	HP:0040283	ORPHA:85408
6775	STAT4	HP:0000501	Glaucoma	HP:0040284	ORPHA:85410
6775	STAT4	HP:0000585	Band keratopathy	HP:0040283	ORPHA:85410
6775	STAT4	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040282	ORPHA:85410
6775	STAT4	HP:0011227	Elevated circulating C-reactive protein concentration	3/4	OMIM:620443
6775	STAT4	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:117
6775	STAT4	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:93552
6775	STAT4	HP:0001888	Decreased total lymphocyte count	3/4	OMIM:620443
6775	STAT4	HP:0000554	Uveitis	HP:0040282	ORPHA:85410
6775	STAT4	HP:0000554	Uveitis	HP:0040283	ORPHA:85408
6775	STAT4	HP:0000572	Visual loss	HP:0040283	ORPHA:85410
6775	STAT4	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:93552
6775	STAT4	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
6775	STAT4	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
6775	STAT4	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
6775	STAT4	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:93552
6775	STAT4	HP:0001875	Decreased total neutrophil count	3/4	OMIM:620443
6777	STAT5B	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6777	STAT5B	HP:0001293	Cranial nerve compression	-	OMIM:131300
6777	STAT5B	HP:0001252	Hypotonia	2/7	OMIM:615777
6777	STAT5B	HP:0001249	Intellectual disability	5/7	OMIM:615777
6777	STAT5B	HP:0001263	Global developmental delay	-	OMIM:615777
6777	STAT5B	HP:0031035	Chronic infection	HP:0040282	ORPHA:520
6777	STAT5B	HP:0002515	Waddling gait	54/102	OMIM:131300
6777	STAT5B	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:520
6777	STAT5B	HP:0001382	Joint hypermobility	-	OMIM:615777
6777	STAT5B	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6777	STAT5B	HP:0008897	Postnatal growth retardation	-	OMIM:618985
6777	STAT5B	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6777	STAT5B	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6777	STAT5B	HP:0001324	Muscle weakness	HP:0040282	ORPHA:520
6777	STAT5B	HP:0001324	Muscle weakness	40/96	OMIM:131300
6777	STAT5B	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6777	STAT5B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6777	STAT5B	HP:0000007	Autosomal recessive inheritance	-	OMIM:245590
6777	STAT5B	HP:0000006	Autosomal dominant inheritance	-	OMIM:618985
6777	STAT5B	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6777	STAT5B	HP:0002653	Bone pain	HP:0040283	ORPHA:520
6777	STAT5B	HP:0002650	Scoliosis	12/14	OMIM:131300
6777	STAT5B	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6777	STAT5B	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6777	STAT5B	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6777	STAT5B	HP:0002608	Celiac disease	1/9	OMIM:618985
6777	STAT5B	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6777	STAT5B	HP:0000175	Cleft palate	2/7	OMIM:615777
6777	STAT5B	HP:0025420	Diffuse alveolar hemorrhage	HP:0040283	ORPHA:520
6777	STAT5B	HP:0002750	Delayed skeletal maturation	-	OMIM:618985
6777	STAT5B	HP:0031245	Productive cough	HP:0040283	ORPHA:520
6777	STAT5B	HP:0002719	Recurrent infections	1/3	OMIM:618985
6777	STAT5B	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:520
6777	STAT5B	HP:0002027	Abdominal pain	HP:0040283	ORPHA:520
6777	STAT5B	HP:0002098	Respiratory distress	1/1	OMIM:245590
6777	STAT5B	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:520
6777	STAT5B	HP:0002039	Anorexia	HP:0040282	ORPHA:520
6777	STAT5B	HP:0003388	Easy fatigability	36/76	OMIM:131300
6777	STAT5B	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6777	STAT5B	HP:0011900	Hypofibrinogenemia	HP:0040283	ORPHA:520
6777	STAT5B	HP:0100758	Gangrene	HP:0040284	ORPHA:520
6777	STAT5B	HP:0003510	Severe short stature	1/1	OMIM:245590
6777	STAT5B	HP:0003510	Severe short stature	7/7	OMIM:615777
6777	STAT5B	HP:0002321	Vertigo	HP:0040282	ORPHA:520
6777	STAT5B	HP:0002315	Headache	-	OMIM:131300
6777	STAT5B	HP:0004976	Knee dislocation	6/7	OMIM:615777
6777	STAT5B	HP:0100646	Thyroiditis	1/9	OMIM:618985
6777	STAT5B	HP:0100608	Metrorrhagia	HP:0040284	ORPHA:520
6777	STAT5B	HP:0009803	Short phalanx of finger	-	OMIM:615777
6777	STAT5B	HP:0009763	Limb pain	63/92	OMIM:131300
6777	STAT5B	HP:0003621	Juvenile onset	-	OMIM:131300
6777	STAT5B	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6777	STAT5B	HP:0005521	Disseminated intravascular coagulation	HP:0040282	ORPHA:520
6777	STAT5B	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6777	STAT5B	HP:6001056	Out-toeing	-	OMIM:131300
6777	STAT5B	HP:0000651	Diplopia	-	OMIM:131300
6777	STAT5B	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:520
6777	STAT5B	HP:0001945	Fever	HP:0040282	ORPHA:520
6777	STAT5B	HP:0001956	Truncal obesity	2/7	OMIM:615777
6777	STAT5B	HP:0001903	Anemia	HP:0040282	ORPHA:520
6777	STAT5B	HP:0001903	Anemia	HP:0040283	OMIM:131300
6777	STAT5B	HP:0010049	Short metacarpal	-	OMIM:615777
6777	STAT5B	HP:0000678	Dental crowding	-	OMIM:615777
6777	STAT5B	HP:0000670	Carious teeth	-	OMIM:131300
6777	STAT5B	HP:0011304	Broad thumb	2/7	OMIM:615777
6777	STAT5B	HP:0000668	Hypodontia	-	OMIM:615777
6777	STAT5B	HP:0000664	Synophrys	-	OMIM:615777
6777	STAT5B	HP:0004322	Short stature	6/9	OMIM:618985
6777	STAT5B	HP:0004396	Poor appetite	-	OMIM:131300
6777	STAT5B	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6777	STAT5B	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6777	STAT5B	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6777	STAT5B	HP:0003026	Short long bone	7/7	OMIM:615777
6777	STAT5B	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6777	STAT5B	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6777	STAT5B	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6777	STAT5B	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6777	STAT5B	HP:0000750	Delayed speech and language development	-	OMIM:615777
6777	STAT5B	HP:0011461	Fetal onset	7/7	OMIM:615777
6777	STAT5B	HP:0000774	Narrow chest	2/7	OMIM:615777
6777	STAT5B	HP:0000790	Hematuria	HP:0040284	ORPHA:520
6777	STAT5B	HP:0000926	Platyspondyly	1/7	OMIM:615777
6777	STAT5B	HP:0003180	Flat acetabular roof	-	OMIM:615777
6777	STAT5B	HP:0004482	Relative macrocephaly	-	OMIM:615777
6777	STAT5B	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6777	STAT5B	HP:0000824	Decreased response to growth hormone stimulation test	1/1	OMIM:245590
6777	STAT5B	HP:0000823	Delayed puberty	-	OMIM:618985
6777	STAT5B	HP:0000823	Delayed puberty	-	OMIM:131300
6777	STAT5B	HP:0010280	Stomatitis	HP:0040283	ORPHA:520
6777	STAT5B	HP:0000894	Short clavicles	-	OMIM:615777
6777	STAT5B	HP:0003212	Increased circulating IgE concentration	8/9	OMIM:618985
6777	STAT5B	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6777	STAT5B	HP:0000979	Purpura	HP:0040282	ORPHA:520
6777	STAT5B	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:520
6777	STAT5B	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6777	STAT5B	HP:0000964	Eczematoid dermatitis	2/3	OMIM:618985
6777	STAT5B	HP:0000967	Petechiae	HP:0040282	ORPHA:520
6777	STAT5B	HP:0000286	Epicanthus	1/7	OMIM:615777
6777	STAT5B	HP:0000280	Coarse facial features	2/7	OMIM:615777
6777	STAT5B	HP:0002827	Hip dislocation	3/7	OMIM:615777
6777	STAT5B	HP:0000252	Microcephaly	3/9	OMIM:618985
6777	STAT5B	HP:0000252	Microcephaly	-	OMIM:615777
6777	STAT5B	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:520
6777	STAT5B	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:520
6777	STAT5B	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:520
6777	STAT5B	HP:0002857	Genu valgum	-	OMIM:131300
6777	STAT5B	HP:0001533	Slender build	-	OMIM:131300
6777	STAT5B	HP:0031364	Ecchymosis	HP:0040282	ORPHA:520
6777	STAT5B	HP:0001508	Failure to thrive	1/1	OMIM:245590
6777	STAT5B	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6777	STAT5B	HP:0007807	Optic nerve compression	-	OMIM:131300
6777	STAT5B	HP:0012378	Fatigue	HP:0040282	ORPHA:520
6777	STAT5B	HP:0012368	Flat face	7/7	OMIM:615777
6777	STAT5B	HP:0006527	Lymphocytic interstitial pneumonia	1/1	OMIM:245590
6777	STAT5B	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6777	STAT5B	HP:0000365	Hearing impairment	10/67	OMIM:131300
6777	STAT5B	HP:0000343	Long philtrum	1/7	OMIM:615777
6777	STAT5B	HP:0011001	Increased bone mineral density	-	OMIM:131300
6777	STAT5B	HP:0030140	Oral cavity bleeding	HP:0040283	ORPHA:520
6777	STAT5B	HP:0000311	Round face	2/7	OMIM:615777
6777	STAT5B	HP:0001620	Abnormally high-pitched voice	1/1	OMIM:245590
6777	STAT5B	HP:0002970	Genu varum	-	OMIM:615777
6777	STAT5B	HP:0000303	Mandibular prognathia	-	OMIM:131300
6777	STAT5B	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6777	STAT5B	HP:0011120	Concave nasal ridge	1/1	OMIM:245590
6777	STAT5B	HP:0000470	Short neck	1/7	OMIM:615777
6777	STAT5B	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6777	STAT5B	HP:0001763	Pes planus	1/7	OMIM:615777
6777	STAT5B	HP:0000421	Epistaxis	HP:0040282	ORPHA:520
6777	STAT5B	HP:0001840	Metatarsus adductus	-	OMIM:615777
6777	STAT5B	HP:0000520	Proptosis	2/4	OMIM:131300
6777	STAT5B	HP:0000520	Proptosis	7/7	OMIM:615777
6777	STAT5B	HP:0001824	Weight loss	HP:0040282	ORPHA:520
6777	STAT5B	HP:0030353	Decreased serum insulin-like growth factor 1	4/9	OMIM:618985
6777	STAT5B	HP:0000592	Blue sclerae	2/7	OMIM:615777
6777	STAT5B	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:520
6777	STAT5B	HP:0011220	Prominent forehead	1/1	OMIM:245590
6777	STAT5B	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6777	STAT5B	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:520
6777	STAT5B	HP:0012514	Lower limb pain	4/4	OMIM:131300
6777	STAT5B	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:520
6777	STAT5B	HP:0001876	Pancytopenia	HP:0040282	ORPHA:520
6777	STAT5B	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:520
6778	STAT6	HP:0410151	Eosinophilic infiltration of the esophagus	-	OMIM:620532
6778	STAT6	HP:0002585	Abnormal peritoneum morphology	HP:0040284	ORPHA:2126
6778	STAT6	HP:0008775	Abnormal prostate morphology	HP:0040284	ORPHA:2126
6778	STAT6	HP:0100845	Anaphylactic shock	9/16	OMIM:620532
6778	STAT6	HP:0000016	Urinary retention	HP:0040284	ORPHA:2126
6778	STAT6	HP:0002664	Neoplasm	HP:0040283	ORPHA:2126
6778	STAT6	HP:0000006	Autosomal dominant inheritance	-	OMIM:620532
6778	STAT6	HP:0012191	B-cell lymphoma	1/16	OMIM:620532
6778	STAT6	HP:0012125	Prostate cancer	HP:0040284	ORPHA:2126
6778	STAT6	HP:0500093	Food allergy	15/16	OMIM:620532
6778	STAT6	HP:0002020	Gastroesophageal reflux	4/16	OMIM:620532
6778	STAT6	HP:0002019	Constipation	HP:0040284	ORPHA:2126
6778	STAT6	HP:0100527	Neoplasia of the pleura	HP:0040283	ORPHA:2126
6778	STAT6	HP:0100526	Neoplasm of the lung	HP:0040284	ORPHA:2126
6778	STAT6	HP:0002099	Asthma	11/16	OMIM:620532
6778	STAT6	HP:0003419	Low back pain	HP:0040284	ORPHA:2126
6778	STAT6	HP:0003593	Infantile onset	16/16	OMIM:620532
6778	STAT6	HP:0002205	Recurrent respiratory infections	5/16	OMIM:620532
6778	STAT6	HP:0032064	Gastrointestinal eosinophilia	10/16	OMIM:620532
6778	STAT6	HP:0001047	Atopic dermatitis	15/16	OMIM:620532
6778	STAT6	HP:0100650	Vaginal neoplasm	HP:0040284	ORPHA:2126
6778	STAT6	HP:0010784	Uterine neoplasm	HP:0040284	ORPHA:2126
6778	STAT6	HP:0010787	Genital neoplasm	HP:0040283	ORPHA:2126
6778	STAT6	HP:0004912	Hypophosphatemic rickets	HP:0040284	ORPHA:2126
6778	STAT6	HP:0007185	Loss of consciousness	HP:0040284	ORPHA:2126
6778	STAT6	HP:0000651	Diplopia	HP:0040284	ORPHA:2126
6778	STAT6	HP:0001943	Hypoglycemia	HP:0040284	ORPHA:2126
6778	STAT6	HP:0001945	Fever	HP:0040284	ORPHA:2126
6778	STAT6	HP:0001988	Recurrent hypoglycemia	HP:0040284	ORPHA:2126
6778	STAT6	HP:0004322	Short stature	7/16	OMIM:620532
6778	STAT6	HP:0004375	Neoplasm of the nervous system	HP:0040284	ORPHA:2126
6778	STAT6	HP:0004429	Recurrent viral infections	2/16	OMIM:620532
6778	STAT6	HP:0030795	Reduced C-peptide level	HP:0040284	ORPHA:2126
6778	STAT6	HP:0003212	Increased circulating IgE concentration	-	OMIM:620532
6778	STAT6	HP:0040216	Hypoinsulinemia	HP:0040284	ORPHA:2126
6778	STAT6	HP:0045026	Abnormal mediastinum morphology	HP:0040284	ORPHA:2126
6778	STAT6	HP:0000939	Osteoporosis	3/16	OMIM:620532
6778	STAT6	HP:0000290	Abnormal forehead morphology	HP:0040284	ORPHA:2126
6778	STAT6	HP:0002896	Neoplasm of the liver	HP:0040284	ORPHA:2126
6778	STAT6	HP:0001581	Recurrent skin infections	7/16	OMIM:620532
6778	STAT6	HP:0031501	Pelvic mass	HP:0040284	ORPHA:2126
6778	STAT6	HP:0012378	Fatigue	HP:0040283	ORPHA:2126
6778	STAT6	HP:0031459	Soft tissue neoplasm	HP:0040283	ORPHA:2126
6778	STAT6	HP:0030166	Night sweats	HP:0040284	ORPHA:2126
6778	STAT6	HP:0001824	Weight loss	HP:0040283	ORPHA:2126
6778	STAT6	HP:0001880	Increased total eosinophil count	15/16	OMIM:620532
6785	ELOVL4	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
6785	ELOVL4	HP:0007256	Abnormal pyramidal sign	-	OMIM:133190
6785	ELOVL4	HP:0001272	Cerebellar atrophy	6/9	OMIM:133190
6785	ELOVL4	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1955
6785	ELOVL4	HP:0001250	Seizure	-	OMIM:614457
6785	ELOVL4	HP:0001251	Ataxia	-	OMIM:133190
6785	ELOVL4	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:1955
6785	ELOVL4	HP:0001265	Hyporeflexia	7/9	OMIM:133190
6785	ELOVL4	HP:0001260	Dysarthria	HP:0040281	ORPHA:1955
6785	ELOVL4	HP:0001260	Dysarthria	6/6	OMIM:133190
6785	ELOVL4	HP:0001263	Global developmental delay	-	OMIM:614457
6785	ELOVL4	HP:0001257	Spasticity	HP:0040283	OMIM:133190
6785	ELOVL4	HP:0007401	Macular atrophy	-	OMIM:600110
6785	ELOVL4	HP:0003829	Typified by incomplete penetrance	-	OMIM:133190
6785	ELOVL4	HP:0002510	Spastic tetraplegia	1/2	OMIM:614457
6785	ELOVL4	HP:0002509	Limb hypertonia	2/2	OMIM:614457
6785	ELOVL4	HP:0003819	Death in childhood	1/2	OMIM:614457
6785	ELOVL4	HP:0000023	Inguinal hernia	1/2	OMIM:614457
6785	ELOVL4	HP:0001347	Hyperreflexia	-	OMIM:133190
6785	ELOVL4	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1/2	OMIM:614457
6785	ELOVL4	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
6785	ELOVL4	HP:0000007	Autosomal recessive inheritance	-	OMIM:614457
6785	ELOVL4	HP:0000006	Autosomal dominant inheritance	-	OMIM:600110
6785	ELOVL4	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
6785	ELOVL4	HP:0000006	Autosomal dominant inheritance	-	OMIM:133190
6785	ELOVL4	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
6785	ELOVL4	HP:0007663	Reduced visual acuity	HP:0040280	ORPHA:827
6785	ELOVL4	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
6785	ELOVL4	HP:0007663	Reduced visual acuity	-	OMIM:600110
6785	ELOVL4	HP:0002080	Intention tremor	HP:0040283	OMIM:133190
6785	ELOVL4	HP:0002099	Asthma	HP:0040283	OMIM:614457
6785	ELOVL4	HP:0002066	Gait ataxia	12/19	OMIM:133190
6785	ELOVL4	HP:0002075	Dysdiadochokinesis	-	OMIM:133190
6785	ELOVL4	HP:0002075	Dysdiadochokinesis	HP:0040281	ORPHA:1955
6785	ELOVL4	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:1955
6785	ELOVL4	HP:0002070	Limb ataxia	9/9	OMIM:133190
6785	ELOVL4	HP:0003477	Peripheral axonal neuropathy	4/8	OMIM:133190
6785	ELOVL4	HP:0002123	Generalized myoclonic seizure	1/2	OMIM:614457
6785	ELOVL4	HP:0002120	Cerebral cortical atrophy	4/9	OMIM:133190
6785	ELOVL4	HP:0002188	Delayed CNS myelination	1/2	OMIM:614457
6785	ELOVL4	HP:0002187	Intellectual disability, profound	1/1	OMIM:614457
6785	ELOVL4	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1955
6785	ELOVL4	HP:0003596	Middle age onset	5/13	OMIM:133190
6785	ELOVL4	HP:0003577	Congenital onset	2/2	OMIM:614457
6785	ELOVL4	HP:0003584	Late onset	5/13	OMIM:133190
6785	ELOVL4	HP:0002380	Fasciculations	HP:0040283	OMIM:133190
6785	ELOVL4	HP:0001025	Urticaria	HP:0040281	ORPHA:1955
6785	ELOVL4	HP:0001019	Erythroderma	14/19	OMIM:133190
6785	ELOVL4	HP:0200034	Papule	HP:0040281	ORPHA:1955
6785	ELOVL4	HP:0010783	Erythema	2/2	OMIM:614457
6785	ELOVL4	HP:0003621	Juvenile onset	8/19	OMIM:180100
6785	ELOVL4	HP:0030500	Yellow/white lesions of the macula	HP:0040282	ORPHA:827
6785	ELOVL4	HP:0000639	Nystagmus	7/7	OMIM:133190
6785	ELOVL4	HP:0000639	Nystagmus	HP:0040281	ORPHA:1955
6785	ELOVL4	HP:0000649	Abnormality of visual evoked potentials	HP:0040281	ORPHA:827
6785	ELOVL4	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	OMIM:614457
6785	ELOVL4	HP:0000613	Photophobia	1/2	OMIM:614457
6785	ELOVL4	HP:0000610	Abnormal choroid morphology	HP:0040281	ORPHA:827
6785	ELOVL4	HP:0000605	Supranuclear gaze palsy	-	OMIM:133190
6785	ELOVL4	HP:0000608	Macular degeneration	HP:0040281	ORPHA:827
6785	ELOVL4	HP:0000603	Central scotoma	HP:0040281	ORPHA:827
6785	ELOVL4	HP:0000662	Nyctalopia	HP:0040281	ORPHA:827
6785	ELOVL4	HP:0000662	Nyctalopia	26/28	OMIM:180100
6785	ELOVL4	HP:0003011	Abnormality of the musculature	HP:0040283	ORPHA:1955
6785	ELOVL4	HP:0012736	Profound global developmental delay	2/2	OMIM:614457
6785	ELOVL4	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:1955
6785	ELOVL4	HP:0012733	Macule	HP:0040281	ORPHA:1955
6785	ELOVL4	HP:0011463	Childhood onset	3/19	OMIM:180100
6785	ELOVL4	HP:0011462	Young adult onset	8/19	OMIM:180100
6785	ELOVL4	HP:0011462	Young adult onset	3/13	OMIM:133190
6785	ELOVL4	HP:0030786	Photopsia	HP:0040282	ORPHA:827
6785	ELOVL4	HP:0011507	Macular flecks	-	OMIM:600110
6785	ELOVL4	HP:0034392	Joint contracture	2/4	OMIM:614457
6785	ELOVL4	HP:0008002	Abnormality of macular pigmentation	HP:0040281	ORPHA:827
6785	ELOVL4	HP:0000958	Dry skin	HP:0040281	ORPHA:1955
6785	ELOVL4	HP:0000958	Dry skin	2/2	OMIM:614457
6785	ELOVL4	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:1955
6785	ELOVL4	HP:0000962	Hyperkeratosis	-	OMIM:614457
6785	ELOVL4	HP:0000962	Hyperkeratosis	14/19	OMIM:133190
6785	ELOVL4	HP:0008064	Ichthyosis	2/2	OMIM:614457
6785	ELOVL4	HP:0008059	Aplasia/Hypoplasia of the macula	HP:0040282	ORPHA:827
6785	ELOVL4	HP:0040189	Scaling skin	2/2	OMIM:614457
6785	ELOVL4	HP:0007722	Retinal pigment epithelial atrophy	HP:0040281	ORPHA:827
6785	ELOVL4	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:827
6785	ELOVL4	HP:0007772	Impaired smooth pursuit	5/9	OMIM:133190
6785	ELOVL4	HP:0007754	Macular dystrophy	-	OMIM:600110
6785	ELOVL4	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
6785	ELOVL4	HP:0000252	Microcephaly	HP:0040283	OMIM:614457
6785	ELOVL4	HP:0000230	Gingivitis	1/2	OMIM:614457
6785	ELOVL4	HP:0001510	Growth delay	-	OMIM:614457
6785	ELOVL4	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
6785	ELOVL4	HP:0007814	Retinal pigment epithelial mottling	HP:0040281	ORPHA:827
6785	ELOVL4	HP:0011003	High myopia	1/2	OMIM:614457
6785	ELOVL4	HP:0002977	Aplasia/Hypoplasia involving the central nervous system	HP:0040283	OMIM:614457
6785	ELOVL4	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:1955
6785	ELOVL4	HP:0030329	Retinal thinning	HP:0040281	ORPHA:827
6785	ELOVL4	HP:0000486	Strabismus	HP:0040283	ORPHA:1955
6785	ELOVL4	HP:0000493	Abnormal foveal morphology	HP:0040281	ORPHA:827
6785	ELOVL4	HP:0012444	Brain atrophy	1/2	OMIM:614457
6785	ELOVL4	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
6785	ELOVL4	HP:0000505	Visual impairment	-	OMIM:600110
6785	ELOVL4	HP:0000575	Scotoma	5/18	OMIM:180100
6785	ELOVL4	HP:0000551	Color vision defect	HP:0040281	ORPHA:827
6785	ELOVL4	HP:0000543	Optic disc pallor	1/1	OMIM:180100
6785	ELOVL4	HP:0000545	Myopia	-	OMIM:180100
6786	STIM1	HP:0032297	Increased circulating IgG3 level	1/3	OMIM:612783
6786	STIM1	HP:0003750	Increased muscle fatiguability	-	OMIM:185070
6786	STIM1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6786	STIM1	HP:0003738	Exercise-induced myalgia	-	OMIM:160565
6786	STIM1	HP:0002401	Stroke-like episode	3/3	OMIM:185070
6786	STIM1	HP:0003701	Proximal muscle weakness	-	OMIM:185070
6786	STIM1	HP:0003701	Proximal muscle weakness	8/11	OMIM:160565
6786	STIM1	HP:0001293	Cranial nerve compression	-	OMIM:131300
6786	STIM1	HP:0100806	Sepsis	3/3	OMIM:612783
6786	STIM1	HP:0001252	Hypotonia	3/3	OMIM:612783
6786	STIM1	HP:0001252	Hypotonia	2/7	OMIM:615777
6786	STIM1	HP:0001249	Intellectual disability	5/7	OMIM:615777
6786	STIM1	HP:0001263	Global developmental delay	-	OMIM:615777
6786	STIM1	HP:0002515	Waddling gait	54/102	OMIM:131300
6786	STIM1	HP:0002522	Areflexia of lower limbs	-	OMIM:160565
6786	STIM1	HP:0003803	Type 1 muscle fiber predominance	6/9	OMIM:160565
6786	STIM1	HP:0001371	Flexion contracture	HP:0040283	OMIM:160565
6786	STIM1	HP:0001382	Joint hypermobility	-	OMIM:615777
6786	STIM1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6786	STIM1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6786	STIM1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6786	STIM1	HP:0001324	Muscle weakness	40/96	OMIM:131300
6786	STIM1	HP:0000010	Recurrent urinary tract infections	1/3	OMIM:612783
6786	STIM1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6786	STIM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612783
6786	STIM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6786	STIM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:160565
6786	STIM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:185070
6786	STIM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6786	STIM1	HP:0002650	Scoliosis	12/14	OMIM:131300
6786	STIM1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6786	STIM1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6786	STIM1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6786	STIM1	HP:0002600	Hyporeflexia of lower limbs	-	OMIM:160565
6786	STIM1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6786	STIM1	HP:0000175	Cleft palate	2/7	OMIM:615777
6786	STIM1	HP:0025435	Increased circulating lactate dehydrogenase concentration	3/3	OMIM:185070
6786	STIM1	HP:0007676	Hypoplasia of the iris	3/3	OMIM:612783
6786	STIM1	HP:0006270	Hypoplastic spleen	2/6	OMIM:185070
6786	STIM1	HP:0000100	Nephrotic syndrome	1/3	OMIM:612783
6786	STIM1	HP:0032550	Howell-Jolly bodies	-	OMIM:185070
6786	STIM1	HP:0002719	Recurrent infections	3/3	OMIM:612783
6786	STIM1	HP:0002718	Recurrent bacterial infections	3/3	OMIM:612783
6786	STIM1	HP:0002716	Lymphadenopathy	2/3	OMIM:612783
6786	STIM1	HP:0002720	Decreased circulating IgA concentration	1/3	OMIM:612783
6786	STIM1	HP:0002721	Immunodeficiency	3/3	OMIM:612783
6786	STIM1	HP:0003326	Myalgia	HP:0040281	ORPHA:2593
6786	STIM1	HP:0003326	Myalgia	-	OMIM:185070
6786	STIM1	HP:0002093	Respiratory insufficiency	HP:0040283	OMIM:160565
6786	STIM1	HP:0003394	Muscle spasm	HP:0040281	ORPHA:2593
6786	STIM1	HP:0003394	Muscle spasm	-	OMIM:160565
6786	STIM1	HP:0002076	Migraine	4/6	OMIM:185070
6786	STIM1	HP:0003388	Easy fatigability	36/76	OMIM:131300
6786	STIM1	HP:0003388	Easy fatigability	-	OMIM:160565
6786	STIM1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6786	STIM1	HP:0003473	Fatigable weakness	HP:0040281	ORPHA:2593
6786	STIM1	HP:0002138	Subarachnoid hemorrhage	1/6	OMIM:185070
6786	STIM1	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:2593
6786	STIM1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:3204
6786	STIM1	HP:0002164	Nail dysplasia	-	OMIM:612783
6786	STIM1	HP:0010522	Dyslexia	-	OMIM:185070
6786	STIM1	HP:0002240	Hepatomegaly	2/3	OMIM:612783
6786	STIM1	HP:0003581	Adult onset	4/11	OMIM:160565
6786	STIM1	HP:0003554	Type 2 muscle fiber atrophy	HP:0040283	ORPHA:2593
6786	STIM1	HP:0003554	Type 2 muscle fiber atrophy	18/19	OMIM:160565
6786	STIM1	HP:0003552	Muscle stiffness	-	OMIM:160565
6786	STIM1	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:2593
6786	STIM1	HP:0003557	Increased variability in muscle fiber diameter	4/9	OMIM:160565
6786	STIM1	HP:0100726	Kaposi's sarcoma	1/1	OMIM:612783
6786	STIM1	HP:0003510	Severe short stature	7/7	OMIM:615777
6786	STIM1	HP:0002359	Frequent falls	-	OMIM:160565
6786	STIM1	HP:0003676	Progressive	-	OMIM:185070
6786	STIM1	HP:0003687	Centrally nucleated skeletal muscle fibers	HP:0040282	ORPHA:2593
6786	STIM1	HP:0003677	Slowly progressive	-	OMIM:160565
6786	STIM1	HP:0002315	Headache	-	OMIM:131300
6786	STIM1	HP:0004976	Knee dislocation	6/7	OMIM:615777
6786	STIM1	HP:0009803	Short phalanx of finger	-	OMIM:615777
6786	STIM1	HP:0007126	Proximal amyotrophy	-	OMIM:160565
6786	STIM1	HP:0009763	Limb pain	63/92	OMIM:131300
6786	STIM1	HP:0003623	Neonatal onset	2/3	OMIM:612783
6786	STIM1	HP:0003621	Juvenile onset	2/11	OMIM:160565
6786	STIM1	HP:0003621	Juvenile onset	-	OMIM:131300
6786	STIM1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6786	STIM1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6786	STIM1	HP:6001056	Out-toeing	-	OMIM:131300
6786	STIM1	HP:0000651	Diplopia	-	OMIM:131300
6786	STIM1	HP:0001973	Autoimmune thrombocytopenia	3/3	OMIM:612783
6786	STIM1	HP:0000616	Miosis	HP:0040281	ORPHA:3204
6786	STIM1	HP:0000616	Miosis	6/6	OMIM:185070
6786	STIM1	HP:0001943	Hypoglycemia	1/3	OMIM:612783
6786	STIM1	HP:0000615	Abnormal pupil morphology	HP:0040283	OMIM:160565
6786	STIM1	HP:0001954	Recurrent fever	-	OMIM:612783
6786	STIM1	HP:0001956	Truncal obesity	2/7	OMIM:615777
6786	STIM1	HP:0001928	Abnormality of coagulation	HP:0040281	ORPHA:3204
6786	STIM1	HP:0000601	Hypotelorism	-	OMIM:185070
6786	STIM1	HP:0001903	Anemia	6/6	OMIM:185070
6786	STIM1	HP:0001903	Anemia	HP:0040283	OMIM:131300
6786	STIM1	HP:0001903	Anemia	HP:0040281	ORPHA:3204
6786	STIM1	HP:0010049	Short metacarpal	-	OMIM:615777
6786	STIM1	HP:0009046	Difficulty running	-	OMIM:160565
6786	STIM1	HP:0000678	Dental crowding	-	OMIM:615777
6786	STIM1	HP:0000662	Nyctalopia	HP:0040283	OMIM:160565
6786	STIM1	HP:0009005	Weakness of the intrinsic hand muscles	-	OMIM:160565
6786	STIM1	HP:0000670	Carious teeth	-	OMIM:131300
6786	STIM1	HP:0011304	Broad thumb	2/7	OMIM:615777
6786	STIM1	HP:0000668	Hypodontia	-	OMIM:615777
6786	STIM1	HP:0000664	Synophrys	-	OMIM:615777
6786	STIM1	HP:0004322	Short stature	HP:0040281	ORPHA:3204
6786	STIM1	HP:0004322	Short stature	-	OMIM:185070
6786	STIM1	HP:0004315	Decreased circulating IgG concentration	1/3	OMIM:612783
6786	STIM1	HP:0004396	Poor appetite	-	OMIM:131300
6786	STIM1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6786	STIM1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6786	STIM1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6786	STIM1	HP:0003011	Abnormality of the musculature	HP:0040281	ORPHA:3204
6786	STIM1	HP:0003026	Short long bone	7/7	OMIM:615777
6786	STIM1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6786	STIM1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6786	STIM1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6786	STIM1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6786	STIM1	HP:0000750	Delayed speech and language development	-	OMIM:615777
6786	STIM1	HP:0000705	Amelogenesis imperfecta	3/3	OMIM:612783
6786	STIM1	HP:0011463	Childhood onset	5/11	OMIM:160565
6786	STIM1	HP:0011461	Fetal onset	7/7	OMIM:615777
6786	STIM1	HP:0000774	Narrow chest	2/7	OMIM:615777
6786	STIM1	HP:0000790	Hematuria	2/6	OMIM:185070
6786	STIM1	HP:0003198	Myopathy	-	OMIM:612783
6786	STIM1	HP:0003198	Myopathy	-	OMIM:185070
6786	STIM1	HP:0003198	Myopathy	-	OMIM:160565
6786	STIM1	HP:0000926	Platyspondyly	1/7	OMIM:615777
6786	STIM1	HP:0100301	Muscle fiber tubular inclusions	HP:0040281	ORPHA:2593
6786	STIM1	HP:0003180	Flat acetabular roof	-	OMIM:615777
6786	STIM1	HP:0004482	Relative macrocephaly	-	OMIM:615777
6786	STIM1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6786	STIM1	HP:0000823	Delayed puberty	-	OMIM:131300
6786	STIM1	HP:0000894	Short clavicles	-	OMIM:615777
6786	STIM1	HP:0040088	Abnormal lymphocyte count	0/3	OMIM:612783
6786	STIM1	HP:0003236	Elevated circulating creatine kinase concentration	6/6	OMIM:185070
6786	STIM1	HP:0003236	Elevated circulating creatine kinase concentration	11/11	OMIM:160565
6786	STIM1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6786	STIM1	HP:0034392	Joint contracture	6/11	OMIM:160565
6786	STIM1	HP:0003261	Increased circulating IgA concentration	1/3	OMIM:612783
6786	STIM1	HP:0000979	Purpura	HP:0040281	ORPHA:3204
6786	STIM1	HP:0000978	Bruising susceptibility	2/6	OMIM:185070
6786	STIM1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6786	STIM1	HP:0000966	Hypohidrosis	-	OMIM:612783
6786	STIM1	HP:0008064	Ichthyosis	4/5	OMIM:185070
6786	STIM1	HP:0008064	Ichthyosis	HP:0040281	ORPHA:3204
6786	STIM1	HP:0000286	Epicanthus	1/7	OMIM:615777
6786	STIM1	HP:0000280	Coarse facial features	2/7	OMIM:615777
6786	STIM1	HP:0002827	Hip dislocation	3/7	OMIM:615777
6786	STIM1	HP:0000252	Microcephaly	-	OMIM:615777
6786	STIM1	HP:0002857	Genu valgum	-	OMIM:131300
6786	STIM1	HP:0001533	Slender build	-	OMIM:131300
6786	STIM1	HP:0002850	Decreased circulating total IgM	2/3	OMIM:612783
6786	STIM1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6786	STIM1	HP:0007807	Optic nerve compression	-	OMIM:131300
6786	STIM1	HP:0012368	Flat face	7/7	OMIM:615777
6786	STIM1	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040281	ORPHA:2593
6786	STIM1	HP:0006532	Recurrent pneumonia	1/3	OMIM:612783
6786	STIM1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6786	STIM1	HP:0000365	Hearing impairment	10/67	OMIM:131300
6786	STIM1	HP:0000343	Long philtrum	1/7	OMIM:615777
6786	STIM1	HP:0011001	Increased bone mineral density	-	OMIM:131300
6786	STIM1	HP:0000348	High forehead	HP:0040281	ORPHA:3204
6786	STIM1	HP:0000311	Round face	2/7	OMIM:615777
6786	STIM1	HP:0000322	Short philtrum	2/6	OMIM:185070
6786	STIM1	HP:0002970	Genu varum	-	OMIM:615777
6786	STIM1	HP:0000303	Mandibular prognathia	-	OMIM:131300
6786	STIM1	HP:0000403	Recurrent otitis media	1/3	OMIM:612783
6786	STIM1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6786	STIM1	HP:0000490	Deeply set eye	HP:0040281	ORPHA:3204
6786	STIM1	HP:0000490	Deeply set eye	6/6	OMIM:185070
6786	STIM1	HP:0000470	Short neck	1/7	OMIM:615777
6786	STIM1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6786	STIM1	HP:0001763	Pes planus	1/7	OMIM:615777
6786	STIM1	HP:0000448	Prominent nose	6/6	OMIM:185070
6786	STIM1	HP:0001746	Asplenia	HP:0040281	ORPHA:3204
6786	STIM1	HP:0001746	Asplenia	3/6	OMIM:185070
6786	STIM1	HP:0001744	Splenomegaly	2/3	OMIM:612783
6786	STIM1	HP:0000421	Epistaxis	4/6	OMIM:185070
6786	STIM1	HP:0001840	Metatarsus adductus	-	OMIM:615777
6786	STIM1	HP:0000520	Proptosis	2/4	OMIM:131300
6786	STIM1	HP:0000520	Proptosis	7/7	OMIM:615777
6786	STIM1	HP:0000592	Blue sclerae	2/7	OMIM:615777
6786	STIM1	HP:0001892	Abnormal bleeding	-	OMIM:185070
6786	STIM1	HP:0001890	Autoimmune hemolytic anemia	1/3	OMIM:612783
6786	STIM1	HP:0001872	Abnormality of thrombocytes	HP:0040281	ORPHA:3204
6786	STIM1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6786	STIM1	HP:0012514	Lower limb pain	4/4	OMIM:131300
6786	STIM1	HP:0001873	Thrombocytopenia	5/6	OMIM:185070
6786	STIM1	HP:0000544	External ophthalmoplegia	2/11	OMIM:160565
6789	STK4	HP:0100806	Sepsis	2/3	OMIM:614868
6789	STK4	HP:0000007	Autosomal recessive inheritance	-	OMIM:614868
6789	STK4	HP:0012189	Hodgkin lymphoma	1/4	OMIM:614868
6789	STK4	HP:0002783	Recurrent lower respiratory tract infections	2/7	OMIM:614868
6789	STK4	HP:0002788	Recurrent upper respiratory tract infections	2/3	OMIM:614868
6789	STK4	HP:0002718	Recurrent bacterial infections	3/3	OMIM:614868
6789	STK4	HP:0002728	Chronic mucocutaneous candidiasis	3/3	OMIM:614868
6789	STK4	HP:0002721	Immunodeficiency	3/3	OMIM:614868
6789	STK4	HP:0002110	Bronchiectasis	3/4	OMIM:614868
6789	STK4	HP:0003593	Infantile onset	1/4	OMIM:614868
6789	STK4	HP:0020072	Persistent EBV viremia	3/4	OMIM:614868
6789	STK4	HP:0200043	Verrucae	3/3	OMIM:614868
6789	STK4	HP:0032163	Molluscum contagiosum	1/4	OMIM:614868
6789	STK4	HP:0032185	Disseminated molluscum contagiosum	1/4	OMIM:614868
6789	STK4	HP:0003621	Juvenile onset	1/3	OMIM:614868
6789	STK4	HP:0005523	Lymphoproliferative disorder	1/4	OMIM:614868
6789	STK4	HP:0001954	Recurrent fever	1/3	OMIM:614868
6789	STK4	HP:0011463	Childhood onset	5/7	OMIM:614868
6789	STK4	HP:0004429	Recurrent viral infections	3/3	OMIM:614868
6789	STK4	HP:0001581	Recurrent skin infections	3/7	OMIM:614868
6789	STK4	HP:0002841	Recurrent fungal infections	-	OMIM:614868
6789	STK4	HP:0006532	Recurrent pneumonia	3/7	OMIM:614868
6789	STK4	HP:0001684	Secundum atrial septal defect	2/3	OMIM:614868
6789	STK4	HP:0001655	Patent foramen ovale	3/3	OMIM:614868
6789	STK4	HP:0011108	Recurrent sinusitis	3/7	OMIM:614868
6789	STK4	HP:0011107	Recurrent aphthous stomatitis	1/4	OMIM:614868
6789	STK4	HP:0001890	Autoimmune hemolytic anemia	1/4	OMIM:614868
6789	STK4	HP:0001888	Decreased total lymphocyte count	11/14	OMIM:614868
6789	STK4	HP:0001875	Decreased total neutrophil count	5/7	OMIM:614868
6790	AURKA	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
6790	AURKA	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
6790	AURKA	HP:0005584	Renal cell carcinoma	-	OMIM:114500
6790	AURKA	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
6790	AURKA	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
6790	AURKA	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
6790	AURKA	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
6792	CDKL5	HP:0001182	Tapered finger	-	OMIM:300672
6792	CDKL5	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:3095
6792	CDKL5	HP:0007328	Impaired pain sensation	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0007281	Developmental stagnation	HP:0040283	ORPHA:3095
6792	CDKL5	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:1934
6792	CDKL5	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0002421	Poor head control	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0002421	Poor head control	HP:0040282	ORPHA:1934
6792	CDKL5	HP:0003763	Bruxism	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0025269	Panic attack	HP:0040283	ORPHA:3095
6792	CDKL5	HP:0001290	Generalized hypotonia	2/5	OMIM:300672
6792	CDKL5	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0001288	Gait disturbance	HP:0040281	ORPHA:3095
6792	CDKL5	HP:0001288	Gait disturbance	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0001254	Lethargy	HP:0040282	ORPHA:1934
6792	CDKL5	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:3095
6792	CDKL5	HP:0001250	Seizure	HP:0040280	ORPHA:1934
6792	CDKL5	HP:0001250	Seizure	HP:0040281	ORPHA:3095
6792	CDKL5	HP:0001250	Seizure	3/5	OMIM:300672
6792	CDKL5	HP:0001252	Hypotonia	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0001252	Hypotonia	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0001252	Hypotonia	-	OMIM:300672
6792	CDKL5	HP:0001249	Intellectual disability	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1934
6792	CDKL5	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3095
6792	CDKL5	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1934
6792	CDKL5	HP:0001263	Global developmental delay	5/5	OMIM:300672
6792	CDKL5	HP:0001257	Spasticity	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0001257	Spasticity	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0002540	Inability to walk	-	OMIM:300672
6792	CDKL5	HP:0002540	Inability to walk	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0002521	Hypsarrhythmia	HP:0040281	ORPHA:697160
6792	CDKL5	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0002521	Hypsarrhythmia	1/5	OMIM:300672
6792	CDKL5	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:1934
6792	CDKL5	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0002505	Loss of ambulation	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0003808	Abnormal muscle tone	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0003808	Abnormal muscle tone	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0025387	Pill-rolling tremor	HP:0040283	ORPHA:3095
6792	CDKL5	HP:0000070	Ureterocele	HP:0040284	ORPHA:1934
6792	CDKL5	HP:0000054	Micropenis	HP:0040284	ORPHA:1934
6792	CDKL5	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1934
6792	CDKL5	HP:0031165	Multifocal seizures	-	OMIM:300672
6792	CDKL5	HP:0001332	Dystonia	HP:0040284	ORPHA:1934
6792	CDKL5	HP:0001332	Dystonia	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0001332	Dystonia	HP:0040283	ORPHA:505652
6792	CDKL5	HP:0001337	Tremor	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0001337	Tremor	HP:0040283	ORPHA:3095
6792	CDKL5	HP:0001336	Myoclonus	1/5	OMIM:300672
6792	CDKL5	HP:0001336	Myoclonus	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0001336	Myoclonus	HP:0040281	ORPHA:697160
6792	CDKL5	HP:0001302	Pachygyria	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0002650	Scoliosis	HP:0040283	ORPHA:505652
6792	CDKL5	HP:0002650	Scoliosis	HP:0040283	ORPHA:3095
6792	CDKL5	HP:0002650	Scoliosis	4/5	OMIM:300672
6792	CDKL5	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:3095
6792	CDKL5	HP:0012171	Stereotypical hand wringing	HP:0040281	ORPHA:3095
6792	CDKL5	HP:0012171	Stereotypical hand wringing	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0000179	Thick lower lip vermilion	-	OMIM:300672
6792	CDKL5	HP:0000175	Cleft palate	HP:0040284	ORPHA:1934
6792	CDKL5	HP:0008947	Floppy infant	HP:0040282	ORPHA:1934
6792	CDKL5	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:505652
6792	CDKL5	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:3095
6792	CDKL5	HP:0033850	Coldness	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0001423	X-linked dominant inheritance	-	OMIM:300672
6792	CDKL5	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:1934
6792	CDKL5	HP:0032588	Hand apraxia	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0002020	Gastroesophageal reflux	1/5	OMIM:300672
6792	CDKL5	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0002019	Constipation	3/5	OMIM:300672
6792	CDKL5	HP:0002019	Constipation	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0002033	Poor suck	HP:0040282	ORPHA:1934
6792	CDKL5	HP:0002002	Deep philtrum	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0002015	Dysphagia	HP:0040282	ORPHA:1934
6792	CDKL5	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0002066	Gait ataxia	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0002072	Chorea	HP:0040283	ORPHA:505652
6792	CDKL5	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:3095
6792	CDKL5	HP:0002123	Generalized myoclonic seizure	3/5	OMIM:300672
6792	CDKL5	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:1934
6792	CDKL5	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0002104	Apnea	HP:0040283	ORPHA:505652
6792	CDKL5	HP:0002186	Apraxia	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0002187	Intellectual disability, profound	-	OMIM:300672
6792	CDKL5	HP:0002197	Generalized-onset seizure	3/5	OMIM:300672
6792	CDKL5	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:3095
6792	CDKL5	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0003593	Infantile onset	-	OMIM:300672
6792	CDKL5	HP:0100703	Tongue thrusting	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0100704	Cerebral visual impairment	-	OMIM:300672
6792	CDKL5	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1934
6792	CDKL5	HP:0200134	Epileptic encephalopathy	-	OMIM:300672
6792	CDKL5	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:1934
6792	CDKL5	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1934
6792	CDKL5	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:3095
6792	CDKL5	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:1934
6792	CDKL5	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:3095
6792	CDKL5	HP:0002376	Developmental regression	-	OMIM:300672
6792	CDKL5	HP:0002376	Developmental regression	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0002376	Developmental regression	HP:0040281	ORPHA:697160
6792	CDKL5	HP:0002376	Developmental regression	HP:0040281	ORPHA:3095
6792	CDKL5	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0002371	Loss of speech	HP:0040281	ORPHA:3095
6792	CDKL5	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1934
6792	CDKL5	HP:0002353	EEG abnormality	HP:0040281	ORPHA:3095
6792	CDKL5	HP:0010841	Multifocal epileptiform discharges	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0010845	EEG with generalized slow activity	6/6	OMIM:300672
6792	CDKL5	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0009852	Broad proximal phalanges of the hand	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0010819	Atonic seizure	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0010818	Generalized tonic seizure	HP:0040281	ORPHA:505652
6792	CDKL5	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0200055	Small hand	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0200055	Small hand	1/5	OMIM:300672
6792	CDKL5	HP:0002300	Mutism	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0011343	Moderate global developmental delay	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0000664	Synophrys	HP:0040283	ORPHA:505652
6792	CDKL5	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:3095
6792	CDKL5	HP:0004305	Involuntary movements	HP:0040281	ORPHA:3095
6792	CDKL5	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:3095
6792	CDKL5	HP:0000733	Motor stereotypy	3/5	OMIM:300672
6792	CDKL5	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0000749	Paroxysmal bursts of laughter	HP:0040283	ORPHA:505652
6792	CDKL5	HP:0000748	Inappropriate laughter	HP:0040283	ORPHA:3095
6792	CDKL5	HP:0000713	Agitation	HP:0040281	ORPHA:3095
6792	CDKL5	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0000729	Autistic behavior	HP:0040281	ORPHA:3095
6792	CDKL5	HP:0000729	Autistic behavior	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0000723	Restrictive behavior	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:697160
6792	CDKL5	HP:0010174	Broad phalanx of the toes	HP:0040284	ORPHA:1934
6792	CDKL5	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0012760	Reduced social responsiveness	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:3095
6792	CDKL5	HP:0000817	Reduced eye contact	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0000817	Reduced eye contact	2/5	OMIM:300672
6792	CDKL5	HP:5200061	Tactile hypersensitivity	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1934
6792	CDKL5	HP:0045084	Limb myoclonus	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0009381	Short finger	HP:0040284	ORPHA:1934
6792	CDKL5	HP:0002808	Kyphosis	HP:0040283	ORPHA:3095
6792	CDKL5	HP:0002808	Kyphosis	HP:0040283	ORPHA:505652
6792	CDKL5	HP:0000253	Progressive microcephaly	-	OMIM:300672
6792	CDKL5	HP:0000252	Microcephaly	HP:0040283	ORPHA:505652
6792	CDKL5	HP:0000252	Microcephaly	HP:0040284	ORPHA:1934
6792	CDKL5	HP:0002883	Hyperventilation	-	OMIM:300672
6792	CDKL5	HP:0002883	Hyperventilation	HP:0040283	ORPHA:505652
6792	CDKL5	HP:0002882	Sudden episodic apnea	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0002876	Episodic tachypnea	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1934
6792	CDKL5	HP:0001508	Failure to thrive	HP:0040284	ORPHA:1934
6792	CDKL5	HP:0001500	Broad finger	HP:0040284	ORPHA:1934
6792	CDKL5	HP:0001510	Growth delay	HP:0040283	ORPHA:3095
6792	CDKL5	HP:0001510	Growth delay	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0007824	Total ophthalmoplegia	-	ORPHA:3095
6792	CDKL5	HP:0032807	Neonatal seizure	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0000341	Narrow forehead	HP:0040283	ORPHA:505652
6792	CDKL5	HP:0000340	Sloping forehead	HP:0040284	ORPHA:1934
6792	CDKL5	HP:0000337	Broad forehead	-	OMIM:300672
6792	CDKL5	HP:0000337	Broad forehead	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0000348	High forehead	HP:0040283	ORPHA:505652
6792	CDKL5	HP:0032794	Myoclonic seizure	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:1934
6792	CDKL5	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:1934
6792	CDKL5	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:1934
6792	CDKL5	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:1934
6792	CDKL5	HP:0030215	Inappropriate crying	HP:0040283	ORPHA:3095
6792	CDKL5	HP:0000486	Strabismus	HP:0040284	ORPHA:1934
6792	CDKL5	HP:0012469	Infantile spasms	HP:0040281	ORPHA:697160
6792	CDKL5	HP:0012469	Infantile spasms	HP:0040283	ORPHA:3095
6792	CDKL5	HP:0012469	Infantile spasms	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0012469	Infantile spasms	3/5	OMIM:300672
6792	CDKL5	HP:0012469	Infantile spasms	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0000490	Deeply set eye	-	OMIM:300672
6792	CDKL5	HP:0000490	Deeply set eye	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1934
6792	CDKL5	HP:0000463	Anteverted nares	-	OMIM:300672
6792	CDKL5	HP:0012448	Delayed myelination	HP:0040283	ORPHA:1934
6792	CDKL5	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:697160
6792	CDKL5	HP:0001773	Short foot	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0001773	Short foot	1/5	OMIM:300672
6792	CDKL5	HP:0005484	Secondary microcephaly	HP:0040282	ORPHA:3095
6792	CDKL5	HP:0001822	Hallux valgus	HP:0040283	ORPHA:505652
6792	CDKL5	HP:0000577	Exotropia	HP:0040283	ORPHA:505652
6792	CDKL5	HP:0012554	Absent thumbnail	HP:0040284	ORPHA:1934
6792	CDKL5	HP:0011220	Prominent forehead	-	OMIM:300672
6792	CDKL5	HP:0011220	Prominent forehead	HP:0040282	ORPHA:505652
6792	CDKL5	HP:0000565	Esotropia	HP:0040283	ORPHA:505652
6794	STK11	HP:0003745	Sporadic	-	OMIM:273300
6794	STK11	HP:0100833	Neoplasm of the small intestine	HP:0040283	ORPHA:2869
6794	STK11	HP:0002584	Intestinal bleeding	1/1	OMIM:175200
6794	STK11	HP:0002576	Intussusception	HP:0040283	OMIM:174900
6794	STK11	HP:0002576	Intussusception	2/2	OMIM:175200
6794	STK11	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
6794	STK11	HP:0008675	Enlarged polycystic ovaries	HP:0040283	ORPHA:2869
6794	STK11	HP:0001217	Clubbing	HP:0040283	OMIM:174900
6794	STK11	HP:0001217	Clubbing	-	OMIM:175200
6794	STK11	HP:0012056	Cutaneous melanoma	-	OMIM:155600
6794	STK11	HP:0000069	Abnormality of the ureter	-	OMIM:175200
6794	STK11	HP:0000069	Abnormality of the ureter	HP:0040283	ORPHA:2869
6794	STK11	HP:0000027	Azoospermia	-	OMIM:273300
6794	STK11	HP:0002664	Neoplasm	HP:0040283	ORPHA:2869
6794	STK11	HP:0002672	Gastrointestinal carcinoma	HP:0040281	ORPHA:2869
6794	STK11	HP:0002672	Gastrointestinal carcinoma	4/31	OMIM:175200
6794	STK11	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
6794	STK11	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
6794	STK11	HP:0000006	Autosomal dominant inheritance	-	OMIM:260350
6794	STK11	HP:0000006	Autosomal dominant inheritance	-	OMIM:155600
6794	STK11	HP:0000006	Autosomal dominant inheritance	-	OMIM:175200
6794	STK11	HP:0032451	Oral melanotic macule	12/12	OMIM:175200
6794	STK11	HP:0032454	Labial melanotic macule	13/13	OMIM:175200
6794	STK11	HP:0012126	Stomach cancer	HP:0040283	ORPHA:2869
6794	STK11	HP:0000138	Ovarian cyst	-	OMIM:175200
6794	STK11	HP:0410067	Increased level of L-fucose in urine	-	OMIM:260350
6794	STK11	HP:0006254	Elevated circulating alpha-fetoprotein concentration	-	OMIM:273300
6794	STK11	HP:0001442	Typified by somatic mosaicism	-	OMIM:260350
6794	STK11	HP:0001442	Typified by somatic mosaicism	-	OMIM:273300
6794	STK11	HP:0031261	Bladder polyp	-	OMIM:175200
6794	STK11	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
6794	STK11	HP:0002035	Rectal prolapse	-	OMIM:175200
6794	STK11	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:2869
6794	STK11	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
6794	STK11	HP:0002027	Abdominal pain	2/2	OMIM:175200
6794	STK11	HP:0002027	Abdominal pain	HP:0040283	ORPHA:2869
6794	STK11	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
6794	STK11	HP:0002013	Vomiting	HP:0040283	ORPHA:2869
6794	STK11	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:2869
6794	STK11	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:2869
6794	STK11	HP:0100574	Biliary tract neoplasm	HP:0040283	ORPHA:2869
6794	STK11	HP:0100582	Nasal polyposis	-	OMIM:175200
6794	STK11	HP:0100582	Nasal polyposis	HP:0040283	ORPHA:2869
6794	STK11	HP:0008204	Precocious puberty with Sertoli cell tumor	-	OMIM:175200
6794	STK11	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:2869
6794	STK11	HP:0003581	Adult onset	-	OMIM:260350
6794	STK11	HP:0100768	Choriocarcinoma	-	OMIM:273300
6794	STK11	HP:0100751	Esophageal neoplasm	HP:0040283	ORPHA:2869
6794	STK11	HP:0100743	Neoplasm of the rectum	HP:0040283	ORPHA:2869
6794	STK11	HP:0100759	Clubbing of fingers	-	OMIM:175200
6794	STK11	HP:0001054	Numerous nevi	-	OMIM:155600
6794	STK11	HP:0001062	Atypical nevus	-	OMIM:155600
6794	STK11	HP:0001034	Hypermelanotic macule	1/1	OMIM:175200
6794	STK11	HP:0001003	Multiple lentigines	HP:0040281	ORPHA:2869
6794	STK11	HP:0100644	Melanonychia	HP:0040283	ORPHA:2869
6794	STK11	HP:0025085	Bloody diarrhea	1/1	OMIM:175200
6794	STK11	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040281	ORPHA:2869
6794	STK11	HP:0001074	Atypical nevi in non-sun exposed areas	-	OMIM:155600
6794	STK11	HP:0001080	Biliary tract abnormality	-	OMIM:175200
6794	STK11	HP:0010784	Uterine neoplasm	-	OMIM:175200
6794	STK11	HP:0009792	Teratoma	-	OMIM:273300
6794	STK11	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:2869
6794	STK11	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:2869
6794	STK11	HP:0001903	Anemia	HP:0040282	OMIM:174900
6794	STK11	HP:0001903	Anemia	HP:0040283	ORPHA:2869
6794	STK11	HP:0003002	Breast carcinoma	-	OMIM:175200
6794	STK11	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:2869
6794	STK11	HP:0003003	Colon cancer	20%	OMIM:174900
6794	STK11	HP:0003003	Colon cancer	5/12	OMIM:608456
6794	STK11	HP:0003073	Hypoalbuminemia	-	OMIM:174900
6794	STK11	HP:0004394	Multiple gastric polyps	1/1	OMIM:175200
6794	STK11	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
6794	STK11	HP:0004390	Hamartomatous polyposis	1/1	OMIM:175200
6794	STK11	HP:0000771	Gynecomastia	-	OMIM:175200
6794	STK11	HP:0012733	Macule	HP:0040281	ORPHA:2869
6794	STK11	HP:0012720	Neoplasm of the nose	HP:0040283	ORPHA:2869
6794	STK11	HP:0011463	Childhood onset	3/3	OMIM:175200
6794	STK11	HP:0100273	Neoplasm of the colon	HP:0040283	ORPHA:2869
6794	STK11	HP:0034352	Bile duct polyp	-	OMIM:175200
6794	STK11	HP:0007716	Uveal melanoma	-	OMIM:155600
6794	STK11	HP:0030079	Cervix cancer	HP:0040283	ORPHA:2869
6794	STK11	HP:0002898	Embryonal neoplasm	-	OMIM:273300
6794	STK11	HP:0002894	Neoplasm of the pancreas	-	OMIM:260350
6794	STK11	HP:0002894	Neoplasm of the pancreas	-	OMIM:175200
6794	STK11	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
6794	STK11	HP:0005264	Abnormality of the gallbladder	HP:0040283	ORPHA:2869
6794	STK11	HP:0005244	Gastrointestinal infarctions	HP:0040283	ORPHA:2869
6794	STK11	HP:0005214	Intestinal obstruction	HP:0040283	ORPHA:2869
6794	STK11	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
6794	STK11	HP:0002900	Hypokalemia	-	OMIM:174900
6794	STK11	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040281	ORPHA:2869
6794	STK11	HP:0000366	Abnormality of the nose	HP:0040283	ORPHA:2869
6794	STK11	HP:0000478	Abnormality of the eye	-	OMIM:155600
6794	STK11	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
6794	STK11	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:2869
6794	STK11	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
6794	STK11	HP:0001891	Iron deficiency anemia	-	OMIM:175200
6795	AURKC	HP:0000007	Autosomal recessive inheritance	-	OMIM:243060
6795	AURKC	HP:0025437	Macrozoospermia	2/2	OMIM:243060
6795	AURKC	HP:0011462	Young adult onset	2/2	OMIM:243060
6795	AURKC	HP:0003251	Male infertility	16/16	OMIM:243060
6795	AURKC	HP:0034309	Multiflagellar spermatozoa	2/2	OMIM:243060
6804	STX1A	HP:0001181	Adducted thumb	HP:0040283	ORPHA:904
6804	STX1A	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:904
6804	STX1A	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
6804	STX1A	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:904
6804	STX1A	HP:0001297	Stroke	HP:0040282	ORPHA:904
6804	STX1A	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:904
6804	STX1A	HP:0001288	Gait disturbance	HP:0040281	ORPHA:904
6804	STX1A	HP:0001252	Hypotonia	HP:0040282	ORPHA:904
6804	STX1A	HP:0001251	Ataxia	HP:0040281	ORPHA:904
6804	STX1A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:904
6804	STX1A	HP:0001260	Dysarthria	HP:0040283	ORPHA:904
6804	STX1A	HP:0001257	Spasticity	HP:0040282	ORPHA:904
6804	STX1A	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:904
6804	STX1A	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:904
6804	STX1A	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
6804	STX1A	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:904
6804	STX1A	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040283	ORPHA:904
6804	STX1A	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:904
6804	STX1A	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
6804	STX1A	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:904
6804	STX1A	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:904
6804	STX1A	HP:0000093	Proteinuria	HP:0040282	ORPHA:904
6804	STX1A	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
6804	STX1A	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
6804	STX1A	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:904
6804	STX1A	HP:0000075	Renal duplication	HP:0040283	ORPHA:904
6804	STX1A	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:904
6804	STX1A	HP:0001387	Joint stiffness	HP:0040282	ORPHA:904
6804	STX1A	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:904
6804	STX1A	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:904
6804	STX1A	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:904
6804	STX1A	HP:0000014	Abnormality of the bladder	HP:0040282	ORPHA:904
6804	STX1A	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:904
6804	STX1A	HP:0001361	Nystagmus-induced head nodding	HP:0040282	ORPHA:904
6804	STX1A	HP:0000025	Functional abnormality of male internal genitalia	HP:0040283	ORPHA:904
6804	STX1A	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:904
6804	STX1A	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:904
6804	STX1A	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:904
6804	STX1A	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:904
6804	STX1A	HP:0001337	Tremor	HP:0040281	ORPHA:904
6804	STX1A	HP:0001310	Dysmetria	HP:0040281	ORPHA:904
6804	STX1A	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:904
6804	STX1A	HP:0002650	Scoliosis	HP:0040283	ORPHA:904
6804	STX1A	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:904
6804	STX1A	HP:0002623	Overriding aorta	HP:0040283	ORPHA:904
6804	STX1A	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:904
6804	STX1A	HP:0000158	Macroglossia	HP:0040281	ORPHA:904
6804	STX1A	HP:0000154	Wide mouth	HP:0040281	ORPHA:904
6804	STX1A	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:904
6804	STX1A	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:904
6804	STX1A	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
6804	STX1A	HP:0000125	Pelvic kidney	HP:0040282	ORPHA:904
6804	STX1A	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:904
6804	STX1A	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
6804	STX1A	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
6804	STX1A	HP:0002024	Malabsorption	HP:0040283	ORPHA:904
6804	STX1A	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
6804	STX1A	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
6804	STX1A	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:904
6804	STX1A	HP:0002019	Constipation	HP:0040282	ORPHA:904
6804	STX1A	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:904
6804	STX1A	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:904
6804	STX1A	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
6804	STX1A	HP:0002027	Abdominal pain	HP:0040281	ORPHA:904
6804	STX1A	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:904
6804	STX1A	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:904
6804	STX1A	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:904
6804	STX1A	HP:0100539	Periorbital edema	HP:0040281	ORPHA:904
6804	STX1A	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:904
6804	STX1A	HP:0002099	Asthma	HP:0040283	ORPHA:586
6804	STX1A	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:904
6804	STX1A	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
6804	STX1A	HP:0002141	Gait imbalance	HP:0040281	ORPHA:904
6804	STX1A	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:904
6804	STX1A	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:904
6804	STX1A	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
6804	STX1A	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
6804	STX1A	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
6804	STX1A	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:904
6804	STX1A	HP:0002183	Phonophobia	HP:0040281	ORPHA:904
6804	STX1A	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:904
6804	STX1A	HP:0010526	Dysgraphia	HP:0040281	ORPHA:904
6804	STX1A	HP:0002253	Colonic diverticula	HP:0040282	ORPHA:904
6804	STX1A	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:904
6804	STX1A	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
6804	STX1A	HP:0100785	Insomnia	HP:0040282	ORPHA:904
6804	STX1A	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:904
6804	STX1A	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:904
6804	STX1A	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:904
6804	STX1A	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:904
6804	STX1A	HP:0002376	Developmental regression	HP:0040283	ORPHA:904
6804	STX1A	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:904
6804	STX1A	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:904
6804	STX1A	HP:0010807	Open bite	HP:0040281	ORPHA:904
6804	STX1A	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:904
6804	STX1A	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:904
6804	STX1A	HP:0008499	High hypermetropia	HP:0040281	ORPHA:904
6804	STX1A	HP:0010780	Hyperacusis	HP:0040281	ORPHA:904
6804	STX1A	HP:0002308	Chiari malformation	HP:0040283	ORPHA:904
6804	STX1A	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:904
6804	STX1A	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:904
6804	STX1A	HP:0004295	Abnormal gastric mucosa morphology	HP:0040283	ORPHA:904
6804	STX1A	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:904
6804	STX1A	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040283	ORPHA:904
6804	STX1A	HP:0000635	Blue irides	HP:0040283	ORPHA:904
6804	STX1A	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:904
6804	STX1A	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:904
6804	STX1A	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:904
6804	STX1A	HP:0000691	Microdontia	HP:0040282	ORPHA:904
6804	STX1A	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:904
6804	STX1A	HP:0000670	Carious teeth	HP:0040283	ORPHA:904
6804	STX1A	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:904
6804	STX1A	HP:0000668	Hypodontia	HP:0040282	ORPHA:904
6804	STX1A	HP:0004322	Short stature	HP:0040281	ORPHA:904
6804	STX1A	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:904
6804	STX1A	HP:0004305	Involuntary movements	HP:0040281	ORPHA:904
6804	STX1A	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:904
6804	STX1A	HP:0004381	Supravalvular aortic stenosis	HP:0040282	ORPHA:904
6804	STX1A	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:904
6804	STX1A	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:904
6804	STX1A	HP:0100025	Overfriendliness	HP:0040281	ORPHA:904
6804	STX1A	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:904
6804	STX1A	HP:0000739	Anxiety	HP:0040281	ORPHA:904
6804	STX1A	HP:0000739	Anxiety	HP:0040283	ORPHA:586
6804	STX1A	HP:0000716	Depression	HP:0040281	ORPHA:904
6804	STX1A	HP:0000716	Depression	HP:0040283	ORPHA:586
6804	STX1A	HP:0000717	Autism	HP:0040282	ORPHA:904
6804	STX1A	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:904
6804	STX1A	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:904
6804	STX1A	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
6804	STX1A	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:904
6804	STX1A	HP:0004428	Elfin facies	HP:0040281	ORPHA:904
6804	STX1A	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
6804	STX1A	HP:0003198	Myopathy	HP:0040283	ORPHA:904
6804	STX1A	HP:0003196	Short nose	HP:0040281	ORPHA:904
6804	STX1A	HP:0000826	Precocious puberty	HP:0040283	ORPHA:904
6804	STX1A	HP:0000822	Hypertension	HP:0040282	ORPHA:904
6804	STX1A	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:904
6804	STX1A	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
6804	STX1A	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:904
6804	STX1A	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:904
6804	STX1A	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
6804	STX1A	HP:0003251	Male infertility	HP:0040282	ORPHA:586
6804	STX1A	HP:0000960	Sacral dimple	HP:0040282	ORPHA:904
6804	STX1A	HP:0000939	Osteoporosis	HP:0040283	ORPHA:904
6804	STX1A	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
6804	STX1A	HP:0000938	Osteopenia	HP:0040283	ORPHA:904
6804	STX1A	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
6804	STX1A	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:904
6804	STX1A	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:904
6804	STX1A	HP:0007720	Flat cornea	HP:0040283	ORPHA:904
6804	STX1A	HP:0000286	Epicanthus	HP:0040281	ORPHA:904
6804	STX1A	HP:0000280	Coarse facial features	HP:0040281	ORPHA:904
6804	STX1A	HP:0000275	Narrow face	HP:0040281	ORPHA:904
6804	STX1A	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
6804	STX1A	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:904
6804	STX1A	HP:0002829	Arthralgia	HP:0040282	ORPHA:904
6804	STX1A	HP:0002808	Kyphosis	HP:0040282	ORPHA:904
6804	STX1A	HP:0000252	Microcephaly	HP:0040282	ORPHA:904
6804	STX1A	HP:0001582	Redundant skin	HP:0040282	ORPHA:904
6804	STX1A	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
6804	STX1A	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:904
6804	STX1A	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:904
6804	STX1A	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:904
6804	STX1A	HP:0002857	Genu valgum	HP:0040282	ORPHA:904
6804	STX1A	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:904
6804	STX1A	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
6804	STX1A	HP:0001513	Obesity	HP:0040282	ORPHA:904
6804	STX1A	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
6804	STX1A	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:904
6804	STX1A	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
6804	STX1A	HP:0001609	Hoarse voice	HP:0040281	ORPHA:904
6804	STX1A	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:904
6804	STX1A	HP:0001618	Dysphonia	HP:0040283	ORPHA:904
6804	STX1A	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
6804	STX1A	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:904
6804	STX1A	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
6804	STX1A	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:904
6804	STX1A	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:904
6804	STX1A	HP:0000343	Long philtrum	HP:0040281	ORPHA:904
6804	STX1A	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:904
6804	STX1A	HP:0000337	Broad forehead	HP:0040281	ORPHA:904
6804	STX1A	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:904
6804	STX1A	HP:0000348	High forehead	HP:0040281	ORPHA:904
6804	STX1A	HP:0000347	Micrognathia	HP:0040281	ORPHA:904
6804	STX1A	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:904
6804	STX1A	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:904
6804	STX1A	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:904
6804	STX1A	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:904
6804	STX1A	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:904
6804	STX1A	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:904
6804	STX1A	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:904
6804	STX1A	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:904
6804	STX1A	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:904
6804	STX1A	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:904
6804	STX1A	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:904
6804	STX1A	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:904
6804	STX1A	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:904
6804	STX1A	HP:0000307	Pointed chin	HP:0040281	ORPHA:904
6804	STX1A	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:904
6804	STX1A	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:904
6804	STX1A	HP:0007957	Corneal opacity	HP:0040283	ORPHA:904
6804	STX1A	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
6804	STX1A	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:904
6804	STX1A	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
6804	STX1A	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:904
6804	STX1A	HP:0000400	Macrotia	HP:0040281	ORPHA:904
6804	STX1A	HP:0000486	Strabismus	HP:0040282	ORPHA:904
6804	STX1A	HP:0000485	Megalocornea	HP:0040283	ORPHA:904
6804	STX1A	HP:0000464	Abnormality of the neck	HP:0040281	ORPHA:904
6804	STX1A	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:904
6804	STX1A	HP:0001763	Pes planus	HP:0040282	ORPHA:904
6804	STX1A	HP:0000411	Protruding ear	HP:0040281	ORPHA:904
6804	STX1A	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:904
6804	STX1A	HP:0000518	Cataract	HP:0040283	ORPHA:904
6804	STX1A	HP:0001822	Hallux valgus	HP:0040282	ORPHA:904
6804	STX1A	HP:0000505	Visual impairment	HP:0040282	ORPHA:904
6804	STX1A	HP:0000501	Glaucoma	HP:0040283	ORPHA:904
6804	STX1A	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:904
6804	STX1A	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:904
6804	STX1A	HP:0000545	Myopia	HP:0040283	ORPHA:904
6809	STX3	HP:0001141	Severely reduced visual acuity	8/10	OMIM:619446
6809	STX3	HP:0001263	Global developmental delay	3/10	OMIM:619446
6809	STX3	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2290
6809	STX3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619445
6809	STX3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619446
6809	STX3	HP:0000121	Nephrocalcinosis	HP:0040282	ORPHA:2290
6809	STX3	HP:0002783	Recurrent lower respiratory tract infections	1/10	OMIM:619446
6809	STX3	HP:0002788	Recurrent upper respiratory tract infections	1/10	OMIM:619446
6809	STX3	HP:0002028	Chronic diarrhea	10/10	OMIM:619446
6809	STX3	HP:0002014	Diarrhea	HP:0040282	ORPHA:2290
6809	STX3	HP:0002013	Vomiting	1/1	OMIM:619445
6809	STX3	HP:0002110	Bronchiectasis	1/1	OMIM:619445
6809	STX3	HP:0002110	Bronchiectasis	1/10	OMIM:619446
6809	STX3	HP:0011947	Respiratory tract infection	1/1	OMIM:619445
6809	STX3	HP:0003623	Neonatal onset	10/10	OMIM:619446
6809	STX3	HP:0000639	Nystagmus	5/10	OMIM:619446
6809	STX3	HP:0001944	Dehydration	HP:0040282	ORPHA:2290
6809	STX3	HP:0001942	Metabolic acidosis	HP:0040282	ORPHA:2290
6809	STX3	HP:0001942	Metabolic acidosis	2/2	OMIM:619445
6809	STX3	HP:0011473	Villous atrophy	HP:0040282	ORPHA:2290
6809	STX3	HP:0011473	Villous atrophy	2/2	OMIM:619445
6809	STX3	HP:0011472	Abnormal small intestinal villus morphology	HP:0040282	ORPHA:2290
6809	STX3	HP:0003270	Abdominal distention	HP:0040282	ORPHA:2290
6809	STX3	HP:0003270	Abdominal distention	1/1	OMIM:619445
6809	STX3	HP:0000989	Pruritus	HP:0040282	ORPHA:2290
6809	STX3	HP:0000938	Osteopenia	1/1	OMIM:619445
6809	STX3	HP:0000938	Osteopenia	1/10	OMIM:619446
6809	STX3	HP:0012211	Abnormal renal physiology	HP:0040282	ORPHA:2290
6809	STX3	HP:0033994	Dependency on parenteral nutrition	1/1	OMIM:619445
6809	STX3	HP:0033996	Microvillar PAS-positive secretory granules	1/1	OMIM:619445
6809	STX3	HP:0033995	Microvillus inclusions	1/1	OMIM:619445
6809	STX3	HP:0001522	Death in infancy	2/10	OMIM:619446
6809	STX3	HP:0005208	Secretory diarrhea	2/2	OMIM:619445
6809	STX3	HP:0011106	Hypovolemia	HP:0040282	ORPHA:2290
6809	STX3	HP:0000543	Optic disc pallor	5/10	OMIM:619446
6810	STX4	HP:0001249	Intellectual disability	0/8	OMIM:620745
6810	STX4	HP:0000007	Autosomal recessive inheritance	-	OMIM:620745
6810	STX4	HP:0000256	Macrocephaly	1/8	OMIM:620745
6810	STX4	HP:0000407	Sensorineural hearing impairment	8/8	OMIM:620745
6810	STX4	HP:0001751	Abnormal vestibular function	0/8	OMIM:620745
6811	STX5	HP:0001270	Motor delay	1/2	OMIM:620454
6811	STX5	HP:0001252	Hypotonia	2/2	OMIM:620454
6811	STX5	HP:0001396	Cholestasis	2/2	OMIM:620454
6811	STX5	HP:0001399	Hepatic failure	2/2	OMIM:620454
6811	STX5	HP:0001395	Hepatic fibrosis	1/2	OMIM:620454
6811	STX5	HP:0012021	Persistent patent ductus venosus	1/2	OMIM:620454
6811	STX5	HP:0000007	Autosomal recessive inheritance	-	OMIM:620454
6811	STX5	HP:0002613	Biliary cirrhosis	1/2	OMIM:620454
6811	STX5	HP:0000122	Unilateral renal agenesis	1/2	OMIM:620454
6811	STX5	HP:0000126	Hydronephrosis	1/2	OMIM:620454
6811	STX5	HP:0003577	Congenital onset	2/2	OMIM:620454
6811	STX5	HP:0002240	Hepatomegaly	2/2	OMIM:620454
6811	STX5	HP:0011954	Nodular regenerative hyperplasia of liver	1/2	OMIM:620454
6811	STX5	HP:0005543	Reduced protein C activity	2/2	OMIM:620454
6811	STX5	HP:0001976	Reduced antithrombin III activity	2/2	OMIM:620454
6811	STX5	HP:0001943	Hypoglycemia	2/2	OMIM:620454
6811	STX5	HP:0001987	Hyperammonemia	2/2	OMIM:620454
6811	STX5	HP:0031956	Elevated circulating aspartate aminotransferase concentration	2/2	OMIM:620454
6811	STX5	HP:0003026	Short long bone	2/2	OMIM:620454
6811	STX5	HP:0000774	Narrow chest	2/2	OMIM:620454
6811	STX5	HP:0003124	Hypercholesterolemia	2/2	OMIM:620454
6811	STX5	HP:0003155	Elevated circulating alkaline phosphatase concentration	2/2	OMIM:620454
6811	STX5	HP:0011649	Patent ductus arteriosus after premature birth	1/2	OMIM:620454
6811	STX5	HP:0006380	Knee flexion contracture	1/2	OMIM:620454
6811	STX5	HP:0001629	Ventricular septal defect	1/2	OMIM:620454
6811	STX5	HP:0001776	Bilateral talipes equinovarus	1/2	OMIM:620454
6812	STXBP1	HP:0001151	Impaired horizontal smooth pursuit	-	OMIM:612164
6812	STXBP1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:495818
6812	STXBP1	HP:0010864	Intellectual disability, severe	-	OMIM:612164
6812	STXBP1	HP:0010851	EEG with burst suppression	5/5	OMIM:612164
6812	STXBP1	HP:0001270	Motor delay	HP:0040281	ORPHA:495818
6812	STXBP1	HP:0001285	Spastic tetraparesis	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0001250	Seizure	HP:0040282	ORPHA:599373
6812	STXBP1	HP:0001250	Seizure	HP:0040281	ORPHA:495818
6812	STXBP1	HP:0001252	Hypotonia	12/15	OMIM:612164
6812	STXBP1	HP:0001252	Hypotonia	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0001251	Ataxia	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:599373
6812	STXBP1	HP:0001266	Choreoathetosis	1/5	OMIM:612164
6812	STXBP1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:599373
6812	STXBP1	HP:0001258	Spastic paraplegia	-	OMIM:612164
6812	STXBP1	HP:0001257	Spasticity	HP:0040284	ORPHA:599373
6812	STXBP1	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040284	ORPHA:599373
6812	STXBP1	HP:0002540	Inability to walk	HP:0040282	ORPHA:495818
6812	STXBP1	HP:0002540	Inability to walk	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:495818
6812	STXBP1	HP:0002521	Hypsarrhythmia	-	OMIM:612164
6812	STXBP1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0002510	Spastic tetraplegia	4/5	OMIM:612164
6812	STXBP1	HP:0002510	Spastic tetraplegia	HP:0040284	ORPHA:599373
6812	STXBP1	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0000046	Small scrotum	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0000054	Micropenis	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:495818
6812	STXBP1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0001332	Dystonia	HP:0040284	ORPHA:599373
6812	STXBP1	HP:0001344	Absent speech	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0001344	Absent speech	2/5	OMIM:612164
6812	STXBP1	HP:0001337	Tremor	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0001337	Tremor	-	OMIM:612164
6812	STXBP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:612164
6812	STXBP1	HP:0000160	Narrow mouth	HP:0040282	ORPHA:495818
6812	STXBP1	HP:0008936	Axial hypotonia	HP:0040281	ORPHA:495818
6812	STXBP1	HP:0002019	Constipation	HP:0040282	ORPHA:495818
6812	STXBP1	HP:0002003	Large forehead	HP:0040281	ORPHA:495818
6812	STXBP1	HP:0002015	Dysphagia	HP:0040281	ORPHA:495818
6812	STXBP1	HP:0002099	Asthma	HP:0040282	ORPHA:495818
6812	STXBP1	HP:0002069	Bilateral tonic-clonic seizure	2/5	OMIM:612164
6812	STXBP1	HP:0002079	Hypoplasia of the corpus callosum	1/5	OMIM:612164
6812	STXBP1	HP:0002059	Cerebral atrophy	4/5	OMIM:612164
6812	STXBP1	HP:0002123	Generalized myoclonic seizure	-	OMIM:612164
6812	STXBP1	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0002133	Status epilepticus	-	OMIM:612164
6812	STXBP1	HP:0002188	Delayed CNS myelination	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0002188	Delayed CNS myelination	2/5	OMIM:612164
6812	STXBP1	HP:0002187	Intellectual disability, profound	5/5	OMIM:612164
6812	STXBP1	HP:0002164	Nail dysplasia	HP:0040281	ORPHA:495818
6812	STXBP1	HP:0011825	Tented philtrum	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0011822	Broad chin	HP:0040281	ORPHA:495818
6812	STXBP1	HP:0003593	Infantile onset	4/5	OMIM:612164
6812	STXBP1	HP:0010720	Abnormal hair pattern	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0200134	Epileptic encephalopathy	-	OMIM:612164
6812	STXBP1	HP:0200134	Epileptic encephalopathy	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0010665	Bilateral coxa valga	HP:0040282	ORPHA:495818
6812	STXBP1	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0002376	Developmental regression	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0002376	Developmental regression	-	OMIM:612164
6812	STXBP1	HP:0001009	Telangiectasia	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0010841	Multifocal epileptiform discharges	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0100660	Dyskinesia	HP:0040284	ORPHA:599373
6812	STXBP1	HP:0010819	Atonic seizure	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0010818	Generalized tonic seizure	-	OMIM:612164
6812	STXBP1	HP:0200005	Abnormal shape of the palpebral fissure	HP:0040281	ORPHA:495818
6812	STXBP1	HP:0100633	Esophagitis	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0007105	Infantile encephalopathy	-	OMIM:612164
6812	STXBP1	HP:0003623	Neonatal onset	1/5	OMIM:612164
6812	STXBP1	HP:0006855	Cerebellar vermis atrophy	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0006808	Cerebral hypomyelination	-	OMIM:612164
6812	STXBP1	HP:0011344	Severe global developmental delay	-	OMIM:612164
6812	STXBP1	HP:0006989	Dysplastic corpus callosum	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0003065	Patellar hypoplasia	HP:0040282	ORPHA:495818
6812	STXBP1	HP:0000752	Hyperactivity	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:495818
6812	STXBP1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:495818
6812	STXBP1	HP:0012762	Cerebral white matter atrophy	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0000293	Full cheeks	HP:0040281	ORPHA:495818
6812	STXBP1	HP:0006471	Fixed elbow flexion	HP:0040282	ORPHA:495818
6812	STXBP1	HP:0006443	Patellar aplasia	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0000252	Microcephaly	HP:0040282	ORPHA:495818
6812	STXBP1	HP:0000248	Brachycephaly	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:495818
6812	STXBP1	HP:0011097	Epileptic spasm	4/5	OMIM:612164
6812	STXBP1	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0000369	Low-set ears	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0002999	Patellar dislocation	HP:0040281	ORPHA:495818
6812	STXBP1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0000311	Round face	HP:0040281	ORPHA:495818
6812	STXBP1	HP:0011185	EEG with focal epileptiform discharges	HP:0040282	ORPHA:599373
6812	STXBP1	HP:0011153	Focal motor seizure	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0000483	Astigmatism	HP:0040282	ORPHA:495818
6812	STXBP1	HP:0000486	Strabismus	HP:0040282	ORPHA:495818
6812	STXBP1	HP:0012469	Infantile spasms	HP:0040283	ORPHA:599373
6812	STXBP1	HP:0012448	Delayed myelination	HP:0040284	ORPHA:599373
6812	STXBP1	HP:0000470	Short neck	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0000465	Webbed neck	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0000445	Wide nose	HP:0040283	ORPHA:495818
6812	STXBP1	HP:0000414	Bulbous nose	HP:0040281	ORPHA:495818
6812	STXBP1	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:495818
6812	STXBP1	HP:0000421	Epistaxis	HP:0040282	ORPHA:495818
6812	STXBP1	HP:0005487	Prominent metopic ridge	HP:0040282	ORPHA:495818
6812	STXBP1	HP:0000506	Telecanthus	HP:0040282	ORPHA:495818
6812	STXBP1	HP:0011203	EEG with abnormally slow frequencies	HP:0040283	ORPHA:599373
6813	STXBP2	HP:0008573	Low-frequency sensorineural hearing impairment	1/1	OMIM:613101
6813	STXBP2	HP:0001250	Seizure	HP:0040283	ORPHA:540
6813	STXBP2	HP:0002583	Colitis	HP:0040283	ORPHA:540
6813	STXBP2	HP:0002583	Colitis	1/1	OMIM:613101
6813	STXBP2	HP:0001259	Coma	HP:0040283	ORPHA:540
6813	STXBP2	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:540
6813	STXBP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613101
6813	STXBP2	HP:0002611	Cholestatic liver disease	HP:0040282	ORPHA:540
6813	STXBP2	HP:0012177	Abnormal natural killer cell physiology	HP:0040282	ORPHA:540
6813	STXBP2	HP:0012177	Abnormal natural killer cell physiology	-	OMIM:613101
6813	STXBP2	HP:0012156	Hemophagocytosis	HP:0040281	ORPHA:540
6813	STXBP2	HP:0012156	Hemophagocytosis	-	OMIM:613101
6813	STXBP2	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	HP:0040281	ORPHA:540
6813	STXBP2	HP:0002788	Recurrent upper respiratory tract infections	1/1	OMIM:613101
6813	STXBP2	HP:0001433	Hepatosplenomegaly	-	OMIM:613101
6813	STXBP2	HP:0001410	Decreased liver function	HP:0040282	ORPHA:540
6813	STXBP2	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:540
6813	STXBP2	HP:0002716	Lymphadenopathy	1/1	OMIM:613101
6813	STXBP2	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:540
6813	STXBP2	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:540
6813	STXBP2	HP:0002155	Hypertriglyceridemia	-	OMIM:613101
6813	STXBP2	HP:0011900	Hypofibrinogenemia	HP:0040282	ORPHA:540
6813	STXBP2	HP:0003593	Infantile onset	8/13	OMIM:613101
6813	STXBP2	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:540
6813	STXBP2	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:540
6813	STXBP2	HP:0001019	Erythroderma	HP:0040282	ORPHA:540
6813	STXBP2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:540
6813	STXBP2	HP:0001945	Fever	HP:0040281	ORPHA:540
6813	STXBP2	HP:0001945	Fever	1/1	OMIM:613101
6813	STXBP2	HP:0001954	Recurrent fever	-	OMIM:613101
6813	STXBP2	HP:0001903	Anemia	HP:0040281	ORPHA:540
6813	STXBP2	HP:0001903	Anemia	1/1	OMIM:613101
6813	STXBP2	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:540
6813	STXBP2	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040283	ORPHA:540
6813	STXBP2	HP:0004313	Decreased circulating immunoglobulin concentration	1/1	OMIM:613101
6813	STXBP2	HP:0003073	Hypoalbuminemia	HP:0040281	ORPHA:540
6813	STXBP2	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:540
6813	STXBP2	HP:0011463	Childhood onset	6/14	OMIM:613101
6813	STXBP2	HP:0030783	Increased circulating interleukin 6 concentration	HP:0040282	ORPHA:540
6813	STXBP2	HP:0003281	Increased circulating ferritin concentration	HP:0040281	ORPHA:540
6813	STXBP2	HP:0003281	Increased circulating ferritin concentration	-	OMIM:613101
6813	STXBP2	HP:0003256	Abnormality of the coagulation cascade	HP:0040282	ORPHA:540
6813	STXBP2	HP:0000979	Purpura	HP:0040282	ORPHA:540
6813	STXBP2	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:540
6813	STXBP2	HP:0000988	Skin rash	HP:0040282	ORPHA:540
6813	STXBP2	HP:0000952	Jaundice	HP:0040283	ORPHA:540
6813	STXBP2	HP:0000967	Petechiae	HP:0040282	ORPHA:540
6813	STXBP2	HP:0040186	Maculopapular exanthema	HP:0040283	ORPHA:540
6813	STXBP2	HP:0012229	CSF pleocytosis	HP:0040282	ORPHA:540
6813	STXBP2	HP:0012211	Abnormal renal physiology	HP:0040282	ORPHA:540
6813	STXBP2	HP:0031364	Ecchymosis	HP:0040282	ORPHA:540
6813	STXBP2	HP:0006530	Abnormal pulmonary interstitial morphology	1/1	OMIM:613101
6813	STXBP2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:540
6813	STXBP2	HP:0002958	Immune dysregulation	HP:0040281	ORPHA:540
6813	STXBP2	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:540
6813	STXBP2	HP:0011118	Abnormality of tumor necrosis factor secretion	HP:0040281	ORPHA:540
6813	STXBP2	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:540
6813	STXBP2	HP:0011108	Recurrent sinusitis	1/1	OMIM:613101
6813	STXBP2	HP:0011112	Abnormal circulating cytokine concentration	HP:0040281	ORPHA:540
6813	STXBP2	HP:0001744	Splenomegaly	HP:0040282	ORPHA:540
6813	STXBP2	HP:0001744	Splenomegaly	1/1	OMIM:613101
6813	STXBP2	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040281	ORPHA:540
6813	STXBP2	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:540
6813	STXBP2	HP:0001873	Thrombocytopenia	1/1	OMIM:613101
6813	STXBP2	HP:0001875	Decreased total neutrophil count	HP:0040282	ORPHA:540
6820	SULT2B1	HP:0100806	Sepsis	HP:0040283	ORPHA:313
6820	SULT2B1	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:313
6820	SULT2B1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:313
6820	SULT2B1	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	4/6	OMIM:617571
6820	SULT2B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617571
6820	SULT2B1	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:313
6820	SULT2B1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:313
6820	SULT2B1	HP:0003577	Congenital onset	6/6	OMIM:617571
6820	SULT2B1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:313
6820	SULT2B1	HP:0100758	Gangrene	HP:0040283	ORPHA:313
6820	SULT2B1	HP:0001019	Erythroderma	HP:0040281	ORPHA:79394
6820	SULT2B1	HP:0001019	Erythroderma	HP:0040281	ORPHA:313
6820	SULT2B1	HP:0200020	Corneal erosion	HP:0040282	ORPHA:79394
6820	SULT2B1	HP:0025080	Orthokeratotic hyperkeratosis	1/1	OMIM:617571
6820	SULT2B1	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:313
6820	SULT2B1	HP:0010783	Erythema	6/6	OMIM:617571
6820	SULT2B1	HP:0001944	Dehydration	HP:0040283	ORPHA:313
6820	SULT2B1	HP:0000656	Ectropion	HP:0040281	ORPHA:79394
6820	SULT2B1	HP:0000656	Ectropion	HP:0040281	ORPHA:313
6820	SULT2B1	HP:0004322	Short stature	HP:0040283	ORPHA:313
6820	SULT2B1	HP:0004322	Short stature	HP:0040283	ORPHA:79394
6820	SULT2B1	HP:0000989	Pruritus	HP:0040281	ORPHA:313
6820	SULT2B1	HP:0000989	Pruritus	2/6	OMIM:617571
6820	SULT2B1	HP:0000989	Pruritus	HP:0040281	ORPHA:79394
6820	SULT2B1	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:79394
6820	SULT2B1	HP:0000958	Dry skin	HP:0040281	ORPHA:313
6820	SULT2B1	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:79394
6820	SULT2B1	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:313
6820	SULT2B1	HP:0000962	Hyperkeratosis	6/6	OMIM:617571
6820	SULT2B1	HP:0008070	Sparse hair	HP:0040281	ORPHA:313
6820	SULT2B1	HP:0008064	Ichthyosis	HP:0040281	ORPHA:313
6820	SULT2B1	HP:0008064	Ichthyosis	HP:0040281	ORPHA:79394
6820	SULT2B1	HP:0040189	Scaling skin	6/6	OMIM:617571
6820	SULT2B1	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:79394
6820	SULT2B1	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:313
6820	SULT2B1	HP:0001596	Alopecia	HP:0040282	ORPHA:79394
6820	SULT2B1	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:313
6820	SULT2B1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79394
6820	SULT2B1	HP:0011039	Abnormal helix morphology	HP:0040282	ORPHA:313
6820	SULT2B1	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:313
6820	SULT2B1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:79394
6820	SULT2B1	HP:0000491	Keratitis	HP:0040282	ORPHA:79394
6821	SUOX	HP:0007325	Generalized dystonia	-	OMIM:272300
6821	SUOX	HP:0010864	Intellectual disability, severe	1/1	OMIM:272300
6821	SUOX	HP:0001290	Generalized hypotonia	-	OMIM:272300
6821	SUOX	HP:0001276	Hypertonia	-	OMIM:272300
6821	SUOX	HP:0001251	Ataxia	-	OMIM:272300
6821	SUOX	HP:0001266	Choreoathetosis	-	OMIM:272300
6821	SUOX	HP:0001263	Global developmental delay	1/1	OMIM:272300
6821	SUOX	HP:0002572	Episodic vomiting	1/1	OMIM:272300
6821	SUOX	HP:0032350	Sulfocysteinuria	1/1	OMIM:272300
6821	SUOX	HP:0001344	Absent speech	1/1	OMIM:272300
6821	SUOX	HP:0000007	Autosomal recessive inheritance	-	OMIM:272300
6821	SUOX	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:272300
6821	SUOX	HP:0008947	Floppy infant	-	OMIM:272300
6821	SUOX	HP:0008936	Axial hypotonia	1/1	OMIM:272300
6821	SUOX	HP:0003359	Decreased urinary sulfate	-	OMIM:272300
6821	SUOX	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:272300
6821	SUOX	HP:0002059	Cerebral atrophy	1/1	OMIM:272300
6821	SUOX	HP:0100704	Cerebral visual impairment	1/1	OMIM:272300
6821	SUOX	HP:0002213	Fine hair	-	OMIM:272300
6821	SUOX	HP:0011942	Increased urinary sulfite level	-	OMIM:272300
6821	SUOX	HP:0010841	Multifocal epileptiform discharges	1/1	OMIM:272300
6821	SUOX	HP:0100660	Dyskinesia	1/1	OMIM:272300
6821	SUOX	HP:0001083	Ectopia lentis	-	OMIM:272300
6821	SUOX	HP:0002301	Hemiplegia	-	OMIM:272300
6821	SUOX	HP:0003623	Neonatal onset	2/2	OMIM:272300
6821	SUOX	HP:0003643	Sulfite oxidase deficiency	1/1	OMIM:272300
6821	SUOX	HP:0001942	Metabolic acidosis	1/1	OMIM:272300
6821	SUOX	HP:0000684	Delayed eruption of teeth	-	OMIM:272300
6821	SUOX	HP:0000713	Agitation	1/1	OMIM:272300
6821	SUOX	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:272300
6821	SUOX	HP:0030890	Hyperintensity of cerebral white matter on MRI	1/1	OMIM:272300
6821	SUOX	HP:0000964	Eczematoid dermatitis	-	OMIM:272300
6821	SUOX	HP:0000252	Microcephaly	2/2	OMIM:272300
6821	SUOX	HP:0001522	Death in infancy	-	OMIM:272300
6821	SUOX	HP:0000341	Narrow forehead	1/1	OMIM:272300
6821	SUOX	HP:0000400	Macrotia	1/1	OMIM:272300
6821	SUOX	HP:0000490	Deeply set eye	1/1	OMIM:272300
6833	ABCC8	HP:0010935	Abnormality of the upper urinary tract	HP:0040283	ORPHA:99885
6833	ABCC8	HP:0009894	Thickened ears	HP:0040283	ORPHA:79134
6833	ABCC8	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:99885
6833	ABCC8	HP:0001290	Generalized hypotonia	1/1	OMIM:618857
6833	ABCC8	HP:0001270	Motor delay	HP:0040282	ORPHA:99885
6833	ABCC8	HP:0001270	Motor delay	1/1	OMIM:618857
6833	ABCC8	HP:0001279	Syncope	HP:0040283	ORPHA:276575
6833	ABCC8	HP:0001254	Lethargy	HP:0040283	ORPHA:276575
6833	ABCC8	HP:0001250	Seizure	HP:0040283	ORPHA:99886
6833	ABCC8	HP:0001250	Seizure	-	OMIM:240800
6833	ABCC8	HP:0001250	Seizure	HP:0040282	ORPHA:79134
6833	ABCC8	HP:0001252	Hypotonia	HP:0040283	ORPHA:99885
6833	ABCC8	HP:0001252	Hypotonia	HP:0040283	ORPHA:99886
6833	ABCC8	HP:0001251	Ataxia	HP:0040283	ORPHA:99885
6833	ABCC8	HP:0001251	Ataxia	-	OMIM:240800
6833	ABCC8	HP:0001249	Intellectual disability	HP:0040282	ORPHA:99885
6833	ABCC8	HP:0001249	Intellectual disability	-	OMIM:256450
6833	ABCC8	HP:0001249	Intellectual disability	-	OMIM:240800
6833	ABCC8	HP:0002594	Pancreatic hypoplasia	HP:0040284	ORPHA:552
6833	ABCC8	HP:0002594	Pancreatic hypoplasia	HP:0040283	ORPHA:99885
6833	ABCC8	HP:0002591	Polyphagia	HP:0040283	ORPHA:276575
6833	ABCC8	HP:0001263	Global developmental delay	HP:0040282	ORPHA:99885
6833	ABCC8	HP:0001257	Spasticity	-	OMIM:240800
6833	ABCC8	HP:0001259	Coma	-	OMIM:240800
6833	ABCC8	HP:0001259	Coma	HP:0040283	ORPHA:99885
6833	ABCC8	HP:0031084	Excessive insulin response to glucagon test	HP:0040281	ORPHA:276575
6833	ABCC8	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:79134
6833	ABCC8	HP:0000077	Abnormality of the kidney	HP:0040284	ORPHA:552
6833	ABCC8	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:99886
6833	ABCC8	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:99886
6833	ABCC8	HP:0012028	Hepatocellular adenoma	HP:0040284	ORPHA:552
6833	ABCC8	HP:0001347	Hyperreflexia	-	OMIM:240800
6833	ABCC8	HP:0001324	Muscle weakness	HP:0040282	ORPHA:79134
6833	ABCC8	HP:0001324	Muscle weakness	1/1	OMIM:618857
6833	ABCC8	HP:0001325	Hypoglycemic coma	-	OMIM:256450
6833	ABCC8	HP:0001325	Hypoglycemic coma	HP:0040283	ORPHA:276575
6833	ABCC8	HP:0000007	Autosomal recessive inheritance	-	OMIM:256450
6833	ABCC8	HP:0000007	Autosomal recessive inheritance	-	OMIM:618857
6833	ABCC8	HP:0000006	Autosomal dominant inheritance	-	OMIM:610374
6833	ABCC8	HP:0000006	Autosomal dominant inheritance	-	OMIM:256450
6833	ABCC8	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
6833	ABCC8	HP:0000006	Autosomal dominant inheritance	-	OMIM:240800
6833	ABCC8	HP:0000006	Autosomal dominant inheritance	-	OMIM:618857
6833	ABCC8	HP:0000158	Macroglossia	HP:0040282	ORPHA:99886
6833	ABCC8	HP:0001488	Bilateral ptosis	HP:0040283	ORPHA:79134
6833	ABCC8	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:99885
6833	ABCC8	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:79134
6833	ABCC8	HP:0006274	Reduced pancreatic beta cells	HP:0040281	ORPHA:99885
6833	ABCC8	HP:0000119	Abnormality of the genitourinary system	HP:0040284	ORPHA:552
6833	ABCC8	HP:0000124	Renal tubular dysfunction	HP:0040283	ORPHA:99885
6833	ABCC8	HP:0000112	Nephropathy	HP:0040283	ORPHA:552
6833	ABCC8	HP:0000107	Renal cyst	HP:0040284	ORPHA:552
6833	ABCC8	HP:0031223	Focal pancreatic islet hyperplasia	HP:0040282	ORPHA:276575
6833	ABCC8	HP:0031224	Diffuse pancreatic islet hyperplasia	HP:0040282	ORPHA:276575
6833	ABCC8	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:79134
6833	ABCC8	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:99885
6833	ABCC8	HP:0002013	Vomiting	HP:0040283	ORPHA:79134
6833	ABCC8	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
6833	ABCC8	HP:0005978	Type II diabetes mellitus	2/7	OMIM:610374
6833	ABCC8	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:99885
6833	ABCC8	HP:0040299	Decreased circulating free fatty acid level	HP:0040281	ORPHA:276575
6833	ABCC8	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:99885
6833	ABCC8	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:99885
6833	ABCC8	HP:0002133	Status epilepticus	HP:0040283	ORPHA:276575
6833	ABCC8	HP:0002186	Apraxia	HP:0040283	ORPHA:99885
6833	ABCC8	HP:0002173	Hypoglycemic seizures	-	OMIM:256450
6833	ABCC8	HP:0002173	Hypoglycemic seizures	HP:0040282	ORPHA:276575
6833	ABCC8	HP:0008255	Transient neonatal diabetes mellitus	HP:0040283	ORPHA:552
6833	ABCC8	HP:0008255	Transient neonatal diabetes mellitus	-	OMIM:610374
6833	ABCC8	HP:0008255	Transient neonatal diabetes mellitus	HP:0040282	ORPHA:99886
6833	ABCC8	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:276575
6833	ABCC8	HP:0003584	Late onset	-	OMIM:125853
6833	ABCC8	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:276575
6833	ABCC8	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:276575
6833	ABCC8	HP:0003698	Difficulty standing	1/1	OMIM:618857
6833	ABCC8	HP:0002329	Drowsiness	-	OMIM:240800
6833	ABCC8	HP:0002329	Drowsiness	HP:0040282	ORPHA:276575
6833	ABCC8	HP:0100651	Type I diabetes mellitus	HP:0040284	ORPHA:276575
6833	ABCC8	HP:0100651	Type I diabetes mellitus	1/1	OMIM:618857
6833	ABCC8	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:79134
6833	ABCC8	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:99886
6833	ABCC8	HP:0003623	Neonatal onset	1/1	OMIM:240800
6833	ABCC8	HP:0002305	Athetosis	1/1	OMIM:618857
6833	ABCC8	HP:0004924	Abnormal oral glucose tolerance	HP:0040282	ORPHA:552
6833	ABCC8	HP:0007185	Loss of consciousness	HP:0040283	ORPHA:276575
6833	ABCC8	HP:0004904	Maturity-onset diabetes of the young	HP:0040282	ORPHA:99886
6833	ABCC8	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
6833	ABCC8	HP:0001962	Palpitations	HP:0040282	ORPHA:276575
6833	ABCC8	HP:0001944	Dehydration	HP:0040283	ORPHA:79134
6833	ABCC8	HP:0001944	Dehydration	HP:0040281	ORPHA:99885
6833	ABCC8	HP:0001944	Dehydration	HP:0040281	ORPHA:99886
6833	ABCC8	HP:0001943	Hypoglycemia	1/1	OMIM:240800
6833	ABCC8	HP:0001953	Diabetic ketoacidosis	-	ORPHA:552
6833	ABCC8	HP:0001953	Diabetic ketoacidosis	HP:0040284	ORPHA:99886
6833	ABCC8	HP:0001952	Glucose intolerance	HP:0040282	ORPHA:552
6833	ABCC8	HP:0011342	Mild global developmental delay	HP:0040282	ORPHA:79134
6833	ABCC8	HP:0001985	Hypoketotic hypoglycemia	HP:0040281	ORPHA:276575
6833	ABCC8	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:552
6833	ABCC8	HP:0003076	Glycosuria	HP:0040282	ORPHA:552
6833	ABCC8	HP:0003076	Glycosuria	1/1	OMIM:618857
6833	ABCC8	HP:0003076	Glycosuria	HP:0040281	ORPHA:99885
6833	ABCC8	HP:0003074	Hyperglycemia	HP:0040282	ORPHA:552
6833	ABCC8	HP:0003074	Hyperglycemia	HP:0040280	ORPHA:79134
6833	ABCC8	HP:0003074	Hyperglycemia	HP:0040281	ORPHA:99885
6833	ABCC8	HP:0003074	Hyperglycemia	HP:0040281	ORPHA:99886
6833	ABCC8	HP:0003074	Hyperglycemia	1/1	OMIM:618857
6833	ABCC8	HP:0000737	Irritability	-	OMIM:240800
6833	ABCC8	HP:0000713	Agitation	HP:0040282	ORPHA:276575
6833	ABCC8	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:99886
6833	ABCC8	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:99885
6833	ABCC8	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:99886
6833	ABCC8	HP:0012759	Neurodevelopmental abnormality	HP:0040282	ORPHA:276575
6833	ABCC8	HP:0005750	Lower-limb joint contracture	HP:0040282	ORPHA:99885
6833	ABCC8	HP:0030796	Increased C-peptide level	HP:0040281	ORPHA:276575
6833	ABCC8	HP:0030794	Abnormal circulating C-peptide concentration	HP:0040282	ORPHA:552
6833	ABCC8	HP:0003196	Short nose	HP:0040283	ORPHA:79134
6833	ABCC8	HP:0003162	Fasting hypoglycemia	HP:0040281	ORPHA:276575
6833	ABCC8	HP:0000855	Insulin resistance	-	OMIM:125853
6833	ABCC8	HP:0000857	Neonatal insulin-dependent diabetes mellitus	HP:0040281	ORPHA:99885
6833	ABCC8	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040283	ORPHA:552
6833	ABCC8	HP:0000842	Hyperinsulinemia	HP:0040281	ORPHA:276575
6833	ABCC8	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040283	ORPHA:552
6833	ABCC8	HP:0000825	Hyperinsulinemic hypoglycemia	-	OMIM:256450
6833	ABCC8	HP:0000825	Hyperinsulinemic hypoglycemia	1/1	OMIM:240800
6833	ABCC8	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040281	ORPHA:276575
6833	ABCC8	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:99886
6833	ABCC8	HP:0040025	Clinodactyly of the 4th finger	HP:0040283	ORPHA:79134
6833	ABCC8	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:99886
6833	ABCC8	HP:0040214	Abnormal circulating insulin concentration	HP:0040282	ORPHA:552
6833	ABCC8	HP:0040217	Elevated hemoglobin A1c	HP:0040282	ORPHA:552
6833	ABCC8	HP:0040217	Elevated hemoglobin A1c	HP:0040281	ORPHA:79134
6833	ABCC8	HP:0040216	Hypoinsulinemia	HP:0040282	ORPHA:552
6833	ABCC8	HP:0040216	Hypoinsulinemia	HP:0040281	ORPHA:99886
6833	ABCC8	HP:0004510	Pancreatic islet-cell hyperplasia	-	OMIM:256450
6833	ABCC8	HP:0000980	Pallor	HP:0040282	ORPHA:276575
6833	ABCC8	HP:0000956	Acanthosis nigricans	-	ORPHA:552
6833	ABCC8	HP:0030057	Autoimmune antibody positivity	-	ORPHA:552
6833	ABCC8	HP:0030057	Autoimmune antibody positivity	-	ORPHA:79134
6833	ABCC8	HP:0030057	Autoimmune antibody positivity	-	ORPHA:99885
6833	ABCC8	HP:0030057	Autoimmune antibody positivity	-	ORPHA:99886
6833	ABCC8	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:99885
6833	ABCC8	HP:0025502	Overweight	HP:0040283	ORPHA:552
6833	ABCC8	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:99886
6833	ABCC8	HP:0001508	Failure to thrive	HP:0040281	ORPHA:99885
6833	ABCC8	HP:0001508	Failure to thrive	HP:0040283	ORPHA:99886
6833	ABCC8	HP:0001520	Large for gestational age	HP:0040283	ORPHA:552
6833	ABCC8	HP:0001520	Large for gestational age	HP:0040282	ORPHA:276575
6833	ABCC8	HP:0001520	Large for gestational age	-	OMIM:256450
6833	ABCC8	HP:0001518	Small for gestational age	HP:0040281	ORPHA:99886
6833	ABCC8	HP:0001518	Small for gestational age	1/1	OMIM:618857
6833	ABCC8	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:552
6833	ABCC8	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:99885
6833	ABCC8	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:99886
6833	ABCC8	HP:0001513	Obesity	HP:0040284	ORPHA:552
6833	ABCC8	HP:0002919	Ketonuria	1/1	OMIM:618857
6833	ABCC8	HP:0002919	Ketonuria	HP:0040282	ORPHA:99885
6833	ABCC8	HP:0000365	Hearing impairment	HP:0040283	ORPHA:99885
6833	ABCC8	HP:0000365	Hearing impairment	HP:0040283	ORPHA:99886
6833	ABCC8	HP:0000343	Long philtrum	HP:0040283	ORPHA:79134
6833	ABCC8	HP:0001649	Tachycardia	HP:0040282	ORPHA:276575
6833	ABCC8	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:99885
6833	ABCC8	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:99886
6833	ABCC8	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:276575
6833	ABCC8	HP:0011182	Interictal epileptiform activity	1/1	OMIM:618857
6833	ABCC8	HP:0001738	Exocrine pancreatic insufficiency	HP:0040284	ORPHA:552
6833	ABCC8	HP:0000486	Strabismus	-	OMIM:240800
6833	ABCC8	HP:0000488	Retinopathy	HP:0040283	ORPHA:552
6833	ABCC8	HP:0000488	Retinopathy	HP:0040282	ORPHA:99885
6833	ABCC8	HP:0000463	Anteverted nares	HP:0040283	ORPHA:79134
6833	ABCC8	HP:0012434	Delayed early-childhood social milestone development	1/1	OMIM:618857
6833	ABCC8	HP:0011106	Hypovolemia	HP:0040281	ORPHA:99885
6833	ABCC8	HP:0005487	Prominent metopic ridge	HP:0040283	ORPHA:79134
6833	ABCC8	HP:0005487	Prominent metopic ridge	HP:0040282	ORPHA:99885
6833	ABCC8	HP:0001824	Weight loss	HP:0040281	ORPHA:99885
6833	ABCC8	HP:0012594	Moderate albuminuria	HP:0040282	ORPHA:99885
6834	SURF1	HP:0002490	Increased CSF lactate	-	OMIM:220110
6834	SURF1	HP:0001290	Generalized hypotonia	11/11	OMIM:220110
6834	SURF1	HP:0001270	Motor delay	-	OMIM:220110
6834	SURF1	HP:0001288	Gait disturbance	-	OMIM:616684
6834	SURF1	HP:0001284	Areflexia	-	OMIM:616684
6834	SURF1	HP:0001250	Seizure	-	OMIM:220110
6834	SURF1	HP:0001252	Hypotonia	2/2	OMIM:220110
6834	SURF1	HP:0001251	Ataxia	-	OMIM:616684
6834	SURF1	HP:0001251	Ataxia	2/2	OMIM:220110
6834	SURF1	HP:0001249	Intellectual disability	-	OMIM:220110
6834	SURF1	HP:0001263	Global developmental delay	-	OMIM:220110
6834	SURF1	HP:0003828	Variable expressivity	-	OMIM:616684
6834	SURF1	HP:0003819	Death in childhood	2/2	OMIM:220110
6834	SURF1	HP:0000093	Proteinuria	-	OMIM:220110
6834	SURF1	HP:0001348	Brisk reflexes	11/11	OMIM:220110
6834	SURF1	HP:0001332	Dystonia	-	OMIM:616684
6834	SURF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616684
6834	SURF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:220110
6834	SURF1	HP:0000124	Renal tubular dysfunction	-	OMIM:220110
6834	SURF1	HP:0001427	Mitochondrial inheritance	-	OMIM:220110
6834	SURF1	HP:0001410	Decreased liver function	-	OMIM:220110
6834	SURF1	HP:0002751	Kyphoscoliosis	-	OMIM:616684
6834	SURF1	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:220110
6834	SURF1	HP:0003355	Aminoaciduria	-	OMIM:220110
6834	SURF1	HP:0002098	Respiratory distress	-	OMIM:220110
6834	SURF1	HP:0002078	Truncal ataxia	11/11	OMIM:220110
6834	SURF1	HP:0003388	Easy fatigability	-	OMIM:616684
6834	SURF1	HP:0002151	Increased circulating lactate concentration	-	OMIM:220110
6834	SURF1	HP:0002151	Increased circulating lactate concentration	-	OMIM:616684
6834	SURF1	HP:0003447	Axonal loss	-	OMIM:616684
6834	SURF1	HP:0003593	Infantile onset	2/2	OMIM:220110
6834	SURF1	HP:0002240	Hepatomegaly	-	OMIM:220110
6834	SURF1	HP:0003546	Exercise intolerance	-	OMIM:220110
6834	SURF1	HP:0003688	Cytochrome C oxidase-negative muscle fibers	15/15	OMIM:220110
6834	SURF1	HP:0002376	Developmental regression	13/13	OMIM:220110
6834	SURF1	HP:0002352	Leukoencephalopathy	-	OMIM:220110
6834	SURF1	HP:0003677	Slowly progressive	-	OMIM:616684
6834	SURF1	HP:0009830	Peripheral neuropathy	-	OMIM:616684
6834	SURF1	HP:0000648	Optic atrophy	2/2	OMIM:220110
6834	SURF1	HP:0001903	Anemia	-	OMIM:220110
6834	SURF1	HP:0001994	Renal Fanconi syndrome	-	OMIM:220110
6834	SURF1	HP:0000666	Horizontal nystagmus	-	OMIM:616684
6834	SURF1	HP:0003076	Glycosuria	-	OMIM:220110
6834	SURF1	HP:0003109	Hyperphosphaturia	-	OMIM:220110
6834	SURF1	HP:0003128	Lactic acidosis	13/13	OMIM:220110
6834	SURF1	HP:0003202	Skeletal muscle atrophy	-	OMIM:616684
6834	SURF1	HP:0012240	Increased intramyocellular lipid droplets	-	OMIM:220110
6834	SURF1	HP:0002878	Respiratory failure	2/2	OMIM:220110
6834	SURF1	HP:0000218	High palate	-	OMIM:220110
6834	SURF1	HP:0002875	Exertional dyspnea	-	OMIM:220110
6834	SURF1	HP:0001508	Failure to thrive	2/2	OMIM:220110
6834	SURF1	HP:0011096	Peripheral demyelination	-	OMIM:616684
6834	SURF1	HP:0006565	Increased hepatocellular lipid droplets	-	OMIM:220110
6834	SURF1	HP:0000365	Hearing impairment	-	OMIM:616684
6834	SURF1	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:220110
6834	SURF1	HP:0030319	Weakness of facial musculature	-	OMIM:220110
6834	SURF1	HP:0000407	Sensorineural hearing impairment	-	OMIM:616684
6834	SURF1	HP:0000407	Sensorineural hearing impairment	-	OMIM:220110
6834	SURF1	HP:0000508	Ptosis	-	OMIM:220110
6834	SURF1	HP:0000597	Ophthalmoparesis	2/2	OMIM:220110
6834	SURF1	HP:0000580	Pigmentary retinopathy	-	OMIM:220110
6840	SVIL	HP:0410173	Increased circulating troponin I concentration	2/4	OMIM:619040
6840	SVIL	HP:0001324	Muscle weakness	2/4	OMIM:619040
6840	SVIL	HP:0000007	Autosomal recessive inheritance	-	OMIM:619040
6840	SVIL	HP:0030973	Postexertional symptom exacerbation	2/4	OMIM:619040
6840	SVIL	HP:0003326	Myalgia	2/4	OMIM:619040
6840	SVIL	HP:0003394	Muscle spasm	2/4	OMIM:619040
6840	SVIL	HP:0003458	EMG: myopathic abnormalities	2/4	OMIM:619040
6840	SVIL	HP:0010548	Percussion myotonia	2/4	OMIM:619040
6840	SVIL	HP:0003593	Infantile onset	1/4	OMIM:619040
6840	SVIL	HP:0003577	Congenital onset	1/4	OMIM:619040
6840	SVIL	HP:0025075	Increased QRS voltage	1/4	OMIM:619040
6840	SVIL	HP:0003621	Juvenile onset	1/4	OMIM:619040
6840	SVIL	HP:0012785	Flexion contracture of finger	3/4	OMIM:619040
6840	SVIL	HP:0011463	Childhood onset	1/4	OMIM:619040
6840	SVIL	HP:0003236	Elevated circulating creatine kinase concentration	4/4	OMIM:619040
6840	SVIL	HP:0006466	Ankle flexion contracture	2/4	OMIM:619040
6840	SVIL	HP:0002808	Kyphosis	2/4	OMIM:619040
6840	SVIL	HP:0006380	Knee flexion contracture	2/4	OMIM:619040
6840	SVIL	HP:0005184	Prolonged QTc interval	1/4	OMIM:619040
6840	SVIL	HP:0002987	Elbow flexion contracture	2/4	OMIM:619040
6840	SVIL	HP:0000303	Mandibular prognathia	2/4	OMIM:619040
6840	SVIL	HP:0001712	Left ventricular hypertrophy	2/4	OMIM:619040
6840	SVIL	HP:0000475	Broad neck	4/4	OMIM:619040
6840	SVIL	HP:0001852	Sandal gap	2/4	OMIM:619040
6843	VAMP1	HP:0002497	Spastic ataxia	-	OMIM:108600
6843	VAMP1	HP:0002497	Spastic ataxia	HP:0040282	ORPHA:251282
6843	VAMP1	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:251282
6843	VAMP1	HP:0002421	Poor head control	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0002421	Poor head control	1/1	OMIM:618323
6843	VAMP1	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:98914
6843	VAMP1	HP:0003700	Generalized amyotrophy	1/1	OMIM:618323
6843	VAMP1	HP:0003700	Generalized amyotrophy	-	ORPHA:251282
6843	VAMP1	HP:0001276	Hypertonia	HP:0040281	ORPHA:251282
6843	VAMP1	HP:0001270	Motor delay	1/1	OMIM:618323
6843	VAMP1	HP:0001270	Motor delay	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:251282
6843	VAMP1	HP:0001288	Gait disturbance	-	OMIM:108600
6843	VAMP1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0001283	Bulbar palsy	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0001284	Areflexia	1/1	OMIM:618323
6843	VAMP1	HP:0001284	Areflexia	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0001250	Seizure	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0001250	Seizure	-	ORPHA:251282
6843	VAMP1	HP:0001252	Hypotonia	1/1	OMIM:618323
6843	VAMP1	HP:0001252	Hypotonia	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0001251	Ataxia	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0001265	Hyporeflexia	HP:0040284	ORPHA:98914
6843	VAMP1	HP:0001260	Dysarthria	-	OMIM:618323
6843	VAMP1	HP:0001260	Dysarthria	-	OMIM:108600
6843	VAMP1	HP:0001258	Spastic paraplegia	-	OMIM:108600
6843	VAMP1	HP:0001258	Spastic paraplegia	HP:0040282	ORPHA:251282
6843	VAMP1	HP:0002515	Waddling gait	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0001374	Congenital hip dislocation	HP:0040284	ORPHA:98914
6843	VAMP1	HP:0001371	Flexion contracture	-	OMIM:618323
6843	VAMP1	HP:0025336	Delayed ability to sit	1/1	OMIM:618323
6843	VAMP1	HP:0001382	Joint hypermobility	-	OMIM:618323
6843	VAMP1	HP:0001382	Joint hypermobility	HP:0040284	ORPHA:98914
6843	VAMP1	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:251282
6843	VAMP1	HP:0001347	Hyperreflexia	-	OMIM:108600
6843	VAMP1	HP:0001332	Dystonia	HP:0040283	ORPHA:251282
6843	VAMP1	HP:0001332	Dystonia	-	OMIM:108600
6843	VAMP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618323
6843	VAMP1	HP:0001337	Tremor	HP:0040283	ORPHA:251282
6843	VAMP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:108600
6843	VAMP1	HP:0002650	Scoliosis	1/1	OMIM:618323
6843	VAMP1	HP:0008969	Leg muscle stiffness	-	OMIM:108600
6843	VAMP1	HP:0008969	Leg muscle stiffness	HP:0040282	ORPHA:251282
6843	VAMP1	HP:0025401	Staring gaze	HP:0040284	ORPHA:98914
6843	VAMP1	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0002020	Gastroesophageal reflux	HP:0040284	ORPHA:98914
6843	VAMP1	HP:0002033	Poor suck	HP:0040281	ORPHA:98914
6843	VAMP1	HP:0004661	Frontalis muscle weakness	HP:0040281	ORPHA:98914
6843	VAMP1	HP:0003325	Limb-girdle muscle weakness	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0002015	Dysphagia	-	OMIM:618323
6843	VAMP1	HP:0002015	Dysphagia	HP:0040282	ORPHA:251282
6843	VAMP1	HP:0002015	Dysphagia	-	OMIM:108600
6843	VAMP1	HP:0002015	Dysphagia	HP:0040281	ORPHA:98914
6843	VAMP1	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0003306	Spinal rigidity	-	OMIM:618323
6843	VAMP1	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0005943	Respiratory arrest	HP:0040284	ORPHA:98914
6843	VAMP1	HP:0002064	Spastic gait	HP:0040282	ORPHA:251282
6843	VAMP1	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:251282
6843	VAMP1	HP:0002070	Limb ataxia	HP:0040282	ORPHA:251282
6843	VAMP1	HP:0002058	Myopathic facies	-	OMIM:618323
6843	VAMP1	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0003473	Fatigable weakness	HP:0040281	ORPHA:98914
6843	VAMP1	HP:0003487	Babinski sign	HP:0040282	ORPHA:251282
6843	VAMP1	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1/1	OMIM:618323
6843	VAMP1	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040283	ORPHA:251282
6843	VAMP1	HP:0010536	Central sleep apnea	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0003593	Infantile onset	-	OMIM:618323
6843	VAMP1	HP:0004885	Episodic respiratory distress	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0040281	ORPHA:98914
6843	VAMP1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0011968	Feeding difficulties	1/1	OMIM:618323
6843	VAMP1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:98914
6843	VAMP1	HP:0033383	Decreased compound muscle action potential amplitude	1/1	OMIM:618323
6843	VAMP1	HP:0002392	EEG with polyspike wave complexes	HP:0040284	ORPHA:98914
6843	VAMP1	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0002354	Memory impairment	-	OMIM:108600
6843	VAMP1	HP:0002354	Memory impairment	HP:0040282	ORPHA:251282
6843	VAMP1	HP:0010831	Impaired proprioception	HP:0040283	ORPHA:251282
6843	VAMP1	HP:0008443	Neuropathic spinal arthropathy	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0003623	Neonatal onset	1/1	OMIM:618323
6843	VAMP1	HP:0003621	Juvenile onset	-	OMIM:108600
6843	VAMP1	HP:0007178	Motor polyneuropathy	HP:0040284	ORPHA:98914
6843	VAMP1	HP:0006829	Severe muscular hypotonia	-	OMIM:618323
6843	VAMP1	HP:0000639	Nystagmus	HP:0040284	ORPHA:98914
6843	VAMP1	HP:0000651	Diplopia	HP:0040284	ORPHA:98914
6843	VAMP1	HP:0000605	Supranuclear gaze palsy	-	OMIM:108600
6843	VAMP1	HP:0000605	Supranuclear gaze palsy	HP:0040281	ORPHA:251282
6843	VAMP1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0006961	Jerky head movements	HP:0040282	ORPHA:251282
6843	VAMP1	HP:0000768	Pectus carinatum	HP:0040284	ORPHA:98914
6843	VAMP1	HP:0011469	Nasal regurgitation	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0011462	Young adult onset	-	OMIM:108600
6843	VAMP1	HP:0003198	Myopathy	-	OMIM:618323
6843	VAMP1	HP:0012801	Narrow jaw	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0030842	Choking episodes	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0010307	Stridor	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0100285	EMG: impaired neuromuscular transmission	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0000961	Cyanosis	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0000276	Long face	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0002808	Kyphosis	1/1	OMIM:618323
6843	VAMP1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0002882	Sudden episodic apnea	HP:0040281	ORPHA:98914
6843	VAMP1	HP:0000218	High palate	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:98914
6843	VAMP1	HP:0001558	Decreased fetal movement	-	OMIM:618323
6843	VAMP1	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0002870	Obstructive sleep apnea	HP:0040284	ORPHA:98914
6843	VAMP1	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	-	ORPHA:98914
6843	VAMP1	HP:0001618	Dysphonia	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0001612	Weak cry	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:98914
6843	VAMP1	HP:0002921	Abnormal cerebrospinal fluid morphology	-	ORPHA:251282
6843	VAMP1	HP:0000369	Low-set ears	HP:0040284	ORPHA:98914
6843	VAMP1	HP:0000308	Microretrognathia	HP:0040284	ORPHA:98914
6843	VAMP1	HP:0007941	Limited extraocular movements	-	OMIM:618323
6843	VAMP1	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:98914
6843	VAMP1	HP:0000486	Strabismus	-	OMIM:618323
6843	VAMP1	HP:0000496	Abnormality of eye movement	-	OMIM:108600
6843	VAMP1	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:251282
6843	VAMP1	HP:0000467	Neck muscle weakness	HP:0040281	ORPHA:98914
6843	VAMP1	HP:0001761	Pes cavus	HP:0040283	ORPHA:251282
6843	VAMP1	HP:0001761	Pes cavus	-	OMIM:108600
6843	VAMP1	HP:0001761	Pes cavus	HP:0040283	ORPHA:98914
6843	VAMP1	HP:0000514	Slow saccadic eye movements	-	OMIM:108600
6843	VAMP1	HP:0000514	Slow saccadic eye movements	HP:0040282	ORPHA:251282
6843	VAMP1	HP:0000508	Ptosis	-	OMIM:108600
6843	VAMP1	HP:0000508	Ptosis	HP:0040281	ORPHA:98914
6843	VAMP1	HP:0000508	Ptosis	HP:0040283	ORPHA:251282
6843	VAMP1	HP:0000565	Esotropia	HP:0040284	ORPHA:98914
6844	VAMP2	HP:0001249	Intellectual disability	5/5	OMIM:618760
6844	VAMP2	HP:0001263	Global developmental delay	5/5	OMIM:618760
6844	VAMP2	HP:0007359	Focal-onset seizure	2/5	OMIM:618760
6844	VAMP2	HP:0002540	Inability to walk	3/5	OMIM:618760
6844	VAMP2	HP:0001332	Dystonia	1/5	OMIM:618760
6844	VAMP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618760
6844	VAMP2	HP:0012171	Stereotypical hand wringing	4/5	OMIM:618760
6844	VAMP2	HP:0008936	Axial hypotonia	5/5	OMIM:618760
6844	VAMP2	HP:0002079	Hypoplasia of the corpus callosum	1/5	OMIM:618760
6844	VAMP2	HP:0002072	Chorea	2/5	OMIM:618760
6844	VAMP2	HP:0003593	Infantile onset	-	OMIM:618760
6844	VAMP2	HP:0100704	Cerebral visual impairment	3/5	OMIM:618760
6844	VAMP2	HP:0100716	Self-injurious behavior	1/5	OMIM:618760
6844	VAMP2	HP:0002353	EEG abnormality	5/5	OMIM:618760
6844	VAMP2	HP:0000729	Autistic behavior	5/5	OMIM:618760
6844	VAMP2	HP:0000708	Atypical behavior	3/5	OMIM:618760
6844	VAMP2	HP:0032660	Convulsive status epilepticus	1/5	OMIM:618760
6845	VAMP7	HP:0008726	Hypoplasia of the vagina	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0008730	Female external genitalia in individual with 46,XY karyotype	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0008665	Clitoral hypertrophy	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0000058	Abnormal labia morphology	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0000045	Abnormal scrotum morphology	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0000054	Micropenis	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0000047	Hypospadias	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0000030	Testicular gonadoblastoma	HP:0040283	ORPHA:251510
6845	VAMP7	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:251510
6845	VAMP7	HP:0000027	Azoospermia	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:251510
6845	VAMP7	HP:0000142	Abnormal vagina morphology	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0000150	Gonadoblastoma	HP:0040282	ORPHA:251510
6845	VAMP7	HP:0000149	Ovarian gonadoblastoma	HP:0040283	ORPHA:251510
6845	VAMP7	HP:0000133	Gonadal dysgenesis	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0000100	Nephrotic syndrome	HP:0040284	ORPHA:251510
6845	VAMP7	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:251510
6845	VAMP7	HP:0008193	Primary gonadal insufficiency	HP:0040283	ORPHA:251510
6845	VAMP7	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:251510
6845	VAMP7	HP:0010464	Streak ovary	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0008232	Elevated circulating follicle stimulating hormone level	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0002215	Sparse axillary hair	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0002225	Sparse pubic hair	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0100779	Urogenital sinus anomaly	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0030680	Abnormal cardiovascular system morphology	HP:0040284	ORPHA:251510
6845	VAMP7	HP:0000771	Gynecomastia	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0012870	Vanishing testis	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0000868	Decreased fertility in females	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0000846	Adrenal insufficiency	HP:0040283	ORPHA:251510
6845	VAMP7	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0000812	Abnormal internal genitalia	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0000823	Delayed puberty	HP:0040282	ORPHA:251510
6845	VAMP7	HP:0003251	Male infertility	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0000939	Osteoporosis	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:251510
6845	VAMP7	HP:0012244	Abnormal sex determination	HP:0040281	ORPHA:251510
6850	SYK	HP:0002583	Colitis	4/6	OMIM:619381
6850	SYK	HP:0002588	Duodenal ulcer	1/6	OMIM:619381
6850	SYK	HP:0010976	Decreased total B cell count	2/6	OMIM:619381
6850	SYK	HP:0033605	Pustular rash	1/6	OMIM:619381
6850	SYK	HP:0033628	Bowel irritability	1/6	OMIM:619381
6850	SYK	HP:0001369	Arthritis	1/6	OMIM:619381
6850	SYK	HP:0001386	Joint swelling	1/6	OMIM:619381
6850	SYK	HP:0000006	Autosomal dominant inheritance	-	OMIM:619381
6850	SYK	HP:0012191	B-cell lymphoma	2/6	OMIM:619381
6850	SYK	HP:0000155	Oral ulcer	1/6	OMIM:619381
6850	SYK	HP:0012115	Hepatitis	1/6	OMIM:619381
6850	SYK	HP:0002754	Osteomyelitis	1/6	OMIM:619381
6850	SYK	HP:0002749	Osteomalacia	1/6	OMIM:619381
6850	SYK	HP:0002719	Recurrent infections	2/6	OMIM:619381
6850	SYK	HP:0002716	Lymphadenopathy	3/6	OMIM:619381
6850	SYK	HP:0002729	Follicular hyperplasia	1/6	OMIM:619381
6850	SYK	HP:0002722	Recurrent abscess formation	1/6	OMIM:619381
6850	SYK	HP:0002027	Abdominal pain	1/6	OMIM:619381
6850	SYK	HP:0002014	Diarrhea	5/6	OMIM:619381
6850	SYK	HP:0002013	Vomiting	1/6	OMIM:619381
6850	SYK	HP:0002090	Pneumonia	2/6	OMIM:619381
6850	SYK	HP:0002041	Intractable diarrhea	1/6	OMIM:619381
6850	SYK	HP:0002039	Anorexia	1/6	OMIM:619381
6850	SYK	HP:0003460	Decreased circulating total IgA	3/6	OMIM:619381
6850	SYK	HP:0002110	Bronchiectasis	1/6	OMIM:619381
6850	SYK	HP:6000257	Spinal cord granuloma	1/6	OMIM:619381
6850	SYK	HP:0003593	Infantile onset	3/3	OMIM:619381
6850	SYK	HP:0200029	Vasculitis in the skin	1/6	OMIM:619381
6850	SYK	HP:0032132	Decreased circulating total IgG concentration	5/6	OMIM:619381
6850	SYK	HP:0009797	Cholesteatoma	1/6	OMIM:619381
6850	SYK	HP:0001954	Recurrent fever	3/6	OMIM:619381
6850	SYK	HP:0001903	Anemia	2/6	OMIM:619381
6850	SYK	HP:0003073	Hypoalbuminemia	2/6	OMIM:619381
6850	SYK	HP:0011473	Villous atrophy	1/6	OMIM:619381
6850	SYK	HP:0004464	Postauricular pit	1/6	OMIM:619381
6850	SYK	HP:0003228	Hypernatremia	1/6	OMIM:619381
6850	SYK	HP:0040218	Reduced total natural killer cell count	2/6	OMIM:619381
6850	SYK	HP:0100280	Crohn's disease	1/6	OMIM:619381
6850	SYK	HP:0000988	Skin rash	3/6	OMIM:619381
6850	SYK	HP:0031397	Decreased proportion of naive T cells	1/6	OMIM:619381
6850	SYK	HP:0001581	Recurrent skin infections	1/6	OMIM:619381
6850	SYK	HP:0002850	Decreased circulating total IgM	4/6	OMIM:619381
6850	SYK	HP:0031381	Decreased mitogen-induced T-cell proliferation	1/6	OMIM:619381
6850	SYK	HP:0012387	Bronchitis	1/6	OMIM:619381
6850	SYK	HP:0005263	Gastritis	2/6	OMIM:619381
6850	SYK	HP:0005218	Anoperineal fistula	1/6	OMIM:619381
6850	SYK	HP:0000403	Recurrent otitis media	1/6	OMIM:619381
6850	SYK	HP:0001744	Splenomegaly	2/6	OMIM:619381
6850	SYK	HP:0005403	Decreased total T cell count	1/6	OMIM:619381
6850	SYK	HP:0001824	Weight loss	3/6	OMIM:619381
6850	SYK	HP:0011227	Elevated circulating C-reactive protein concentration	3/6	OMIM:619381
6853	SYN1	HP:0001256	Intellectual disability, mild	-	OMIM:300115
6853	SYN1	HP:0001250	Seizure	HP:0040281	ORPHA:85294
6853	SYN1	HP:0001250	Seizure	-	OMIM:300491
6853	SYN1	HP:0007359	Focal-onset seizure	-	OMIM:300491
6853	SYN1	HP:0001328	Specific learning disability	HP:0040281	ORPHA:85294
6853	SYN1	HP:0001328	Specific learning disability	-	OMIM:300491
6853	SYN1	HP:0001423	X-linked dominant inheritance	-	OMIM:300491
6853	SYN1	HP:0001419	X-linked recessive inheritance	-	OMIM:300491
6853	SYN1	HP:0001417	X-linked inheritance	-	OMIM:300115
6853	SYN1	HP:0000718	Aggressive behavior	HP:0040281	ORPHA:85294
6853	SYN1	HP:0000718	Aggressive behavior	-	OMIM:300491
6853	SYN1	HP:0000729	Autistic behavior	-	OMIM:300491
6853	SYN1	HP:0000256	Macrocephaly	HP:0040281	ORPHA:85294
6853	SYN1	HP:0000256	Macrocephaly	HP:0040283	OMIM:300491
6854	SYN2	HP:0410291	Negativism	-	OMIM:181500
6854	SYN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:181500
6854	SYN2	HP:0100753	Schizophrenia	-	OMIM:181500
6854	SYN2	HP:0007086	Social and occupational deterioration	-	OMIM:181500
6854	SYN2	HP:0002353	EEG abnormality	-	OMIM:181500
6854	SYN2	HP:0000738	Hallucinations	-	OMIM:181500
6854	SYN2	HP:0000746	Delusion	-	OMIM:181500
6855	SYP	HP:0001250	Seizure	HP:0040283	OMIM:300802
6855	SYP	HP:0001249	Intellectual disability	3/3	OMIM:300802
6855	SYP	HP:0001419	X-linked recessive inheritance	-	OMIM:300802
6857	SYT1	HP:0002487	Hyperkinetic movements	HP:0040282	ORPHA:522077
6857	SYT1	HP:0002487	Hyperkinetic movements	1/11	OMIM:618218
6857	SYT1	HP:0002465	Poor speech	HP:0040283	ORPHA:522077
6857	SYT1	HP:0025152	Poor visual behavior for age	HP:0040282	ORPHA:522077
6857	SYT1	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:522077
6857	SYT1	HP:0025247	Dermoid cyst	HP:0040283	ORPHA:522077
6857	SYT1	HP:0001270	Motor delay	HP:0040281	ORPHA:522077
6857	SYT1	HP:0001251	Ataxia	1/11	OMIM:618218
6857	SYT1	HP:0001251	Ataxia	HP:0040283	ORPHA:522077
6857	SYT1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:522077
6857	SYT1	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:522077
6857	SYT1	HP:0001266	Choreoathetosis	2/11	OMIM:618218
6857	SYT1	HP:0001263	Global developmental delay	-	OMIM:618218
6857	SYT1	HP:0008762	Repetitive compulsive behavior	HP:0040282	ORPHA:522077
6857	SYT1	HP:0002540	Inability to walk	-	OMIM:618218
6857	SYT1	HP:0001382	Joint hypermobility	-	OMIM:618218
6857	SYT1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:522077
6857	SYT1	HP:0001332	Dystonia	3/11	OMIM:618218
6857	SYT1	HP:0001332	Dystonia	HP:0040283	ORPHA:522077
6857	SYT1	HP:0001344	Absent speech	9/11	OMIM:618218
6857	SYT1	HP:0001344	Absent speech	HP:0040281	ORPHA:522077
6857	SYT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618218
6857	SYT1	HP:0002650	Scoliosis	-	OMIM:618218
6857	SYT1	HP:0002650	Scoliosis	HP:0040283	ORPHA:522077
6857	SYT1	HP:0001319	Neonatal hypotonia	-	OMIM:618218
6857	SYT1	HP:0012169	Self-biting	HP:0040283	ORPHA:522077
6857	SYT1	HP:0008947	Floppy infant	HP:0040281	ORPHA:522077
6857	SYT1	HP:0002020	Gastroesophageal reflux	4/11	OMIM:618218
6857	SYT1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:522077
6857	SYT1	HP:0004691	2-3 toe syndactyly	HP:0040283	ORPHA:522077
6857	SYT1	HP:0002013	Vomiting	HP:0040282	ORPHA:522077
6857	SYT1	HP:0002072	Chorea	HP:0040283	ORPHA:522077
6857	SYT1	HP:0008138	Equinus calcaneus	HP:0040283	ORPHA:522077
6857	SYT1	HP:0040296	Abnormal location of the eyebrow	HP:0040283	ORPHA:522077
6857	SYT1	HP:0010535	Sleep apnea	HP:0040283	ORPHA:522077
6857	SYT1	HP:0010535	Sleep apnea	1/11	OMIM:618218
6857	SYT1	HP:0003593	Infantile onset	11/11	OMIM:618218
6857	SYT1	HP:0100716	Self-injurious behavior	9/11	OMIM:618218
6857	SYT1	HP:0004879	Intermittent hyperventilation	HP:0040283	ORPHA:522077
6857	SYT1	HP:0011968	Feeding difficulties	2/11	OMIM:618218
6857	SYT1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:522077
6857	SYT1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:522077
6857	SYT1	HP:0002353	EEG abnormality	-	OMIM:618218
6857	SYT1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:522077
6857	SYT1	HP:0100660	Dyskinesia	-	OMIM:618218
6857	SYT1	HP:0000639	Nystagmus	5/11	OMIM:618218
6857	SYT1	HP:0000639	Nystagmus	HP:0040282	ORPHA:522077
6857	SYT1	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:522077
6857	SYT1	HP:0004305	Involuntary movements	-	OMIM:618218
6857	SYT1	HP:0031936	Delayed ability to walk	4/4	OMIM:618218
6857	SYT1	HP:0000739	Anxiety	HP:0040283	ORPHA:522077
6857	SYT1	HP:0000733	Motor stereotypy	4/11	OMIM:618218
6857	SYT1	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:522077
6857	SYT1	HP:0000742	Self-mutilation	HP:0040283	ORPHA:522077
6857	SYT1	HP:0000713	Agitation	HP:0040283	ORPHA:522077
6857	SYT1	HP:0000729	Autistic behavior	HP:0040281	ORPHA:522077
6857	SYT1	HP:0011445	Athetoid cerebral palsy	1/11	OMIM:618218
6857	SYT1	HP:0011445	Athetoid cerebral palsy	HP:0040283	ORPHA:522077
6857	SYT1	HP:0003196	Short nose	-	OMIM:618218
6857	SYT1	HP:0003196	Short nose	HP:0040283	ORPHA:522077
6857	SYT1	HP:0000817	Reduced eye contact	HP:0040282	ORPHA:522077
6857	SYT1	HP:0005876	Progressive flexion contractures	HP:0040283	ORPHA:522077
6857	SYT1	HP:0100248	Hemiballismus	HP:0040283	ORPHA:522077
6857	SYT1	HP:0008081	Pes valgus	HP:0040283	ORPHA:522077
6857	SYT1	HP:0000286	Epicanthus	-	OMIM:618218
6857	SYT1	HP:0000286	Epicanthus	HP:0040283	ORPHA:522077
6857	SYT1	HP:0000244	Brachyturricephaly	HP:0040283	ORPHA:522077
6857	SYT1	HP:0002883	Hyperventilation	HP:0040283	ORPHA:522077
6857	SYT1	HP:0000219	Thin upper lip vermilion	-	OMIM:618218
6857	SYT1	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:522077
6857	SYT1	HP:0002871	Central apnea	HP:0040283	ORPHA:522077
6857	SYT1	HP:0007874	Almond-shaped palpebral fissure	HP:0040283	ORPHA:522077
6857	SYT1	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:522077
6857	SYT1	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:522077
6857	SYT1	HP:0000349	Widow's peak	HP:0040283	ORPHA:522077
6857	SYT1	HP:0000348	High forehead	-	OMIM:618218
6857	SYT1	HP:0000319	Smooth philtrum	-	OMIM:618218
6857	SYT1	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:522077
6857	SYT1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:522077
6857	SYT1	HP:0011196	EEG with focal sharp waves	HP:0040283	ORPHA:522077
6857	SYT1	HP:0011194	EEG with series of focal spikes	HP:0040283	ORPHA:522077
6857	SYT1	HP:0005274	Prominent nasal tip	HP:0040283	ORPHA:522077
6857	SYT1	HP:0005274	Prominent nasal tip	-	OMIM:618218
6857	SYT1	HP:0000486	Strabismus	2/11	OMIM:618218
6857	SYT1	HP:0000486	Strabismus	HP:0040282	ORPHA:522077
6857	SYT1	HP:0012448	Delayed myelination	HP:0040283	ORPHA:522077
6857	SYT1	HP:0001776	Bilateral talipes equinovarus	HP:0040283	ORPHA:522077
6857	SYT1	HP:0001760	Abnormal foot morphology	-	OMIM:618218
6857	SYT1	HP:0000505	Visual impairment	-	OMIM:618218
6857	SYT1	HP:0011228	Horizontal eyebrow	HP:0040283	ORPHA:522077
6857	SYT1	HP:0000565	Esotropia	HP:0040282	ORPHA:522077
6857	SYT1	HP:0000540	Hypermetropia	HP:0040283	ORPHA:522077
6862	TBXT	HP:0002475	Myelomeningocele	-	OMIM:182940
6862	TBXT	HP:0003811	Neonatal death	3/3	OMIM:615709
6862	TBXT	HP:0012032	Lipoma	-	OMIM:182940
6862	TBXT	HP:0000020	Urinary incontinence	-	OMIM:182940
6862	TBXT	HP:0000007	Autosomal recessive inheritance	-	OMIM:615709
6862	TBXT	HP:0000006	Autosomal dominant inheritance	-	OMIM:182940
6862	TBXT	HP:0000122	Unilateral renal agenesis	1/3	OMIM:615709
6862	TBXT	HP:0002023	Anal atresia	1/3	OMIM:615709
6862	TBXT	HP:0003468	Abnormal vertebral morphology	3/3	OMIM:615709
6862	TBXT	HP:0001012	Multiple lipomas	-	OMIM:182940
6862	TBXT	HP:0002323	Anencephaly	-	OMIM:182940
6862	TBXT	HP:0008482	Asymmetry of spinal facet joints	-	OMIM:182940
6862	TBXT	HP:0008428	Vertebral clefting	1/3	OMIM:615709
6862	TBXT	HP:0012621	Persistent cloaca	1/3	OMIM:615709
6862	TBXT	HP:0034199	Late first trimester onset	1/3	OMIM:615709
6862	TBXT	HP:0034198	Second trimester onset	1/3	OMIM:615709
6862	TBXT	HP:0003298	Spina bifida occulta	-	OMIM:182940
6862	TBXT	HP:0010305	Absence of the sacrum	-	OMIM:182940
6862	TBXT	HP:0010305	Absence of the sacrum	3/3	OMIM:615709
6862	TBXT	HP:0000960	Sacral dimple	-	OMIM:182940
6862	TBXT	HP:0000238	Hydrocephalus	-	OMIM:182940
6866	TAC3	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:432
6866	TAC3	HP:0001256	Intellectual disability, mild	HP:0040283	OMIM:614839
6866	TAC3	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:432
6866	TAC3	HP:0008734	Decreased testicular size	1/1	OMIM:146110
6866	TAC3	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:432
6866	TAC3	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:432
6866	TAC3	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:614839
6866	TAC3	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
6866	TAC3	HP:0000054	Micropenis	1/1	OMIM:146110
6866	TAC3	HP:0000054	Micropenis	HP:0040281	ORPHA:432
6866	TAC3	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:432
6866	TAC3	HP:0000028	Cryptorchidism	-	OMIM:146110
6866	TAC3	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:432
6866	TAC3	HP:0000027	Azoospermia	HP:0040281	ORPHA:432
6866	TAC3	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:432
6866	TAC3	HP:0000013	Hypoplasia of the uterus	HP:0040282	ORPHA:432
6866	TAC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
6866	TAC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:614839
6866	TAC3	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:432
6866	TAC3	HP:0000175	Cleft palate	HP:0040283	ORPHA:432
6866	TAC3	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:432
6866	TAC3	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:432
6866	TAC3	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:432
6866	TAC3	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:432
6866	TAC3	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:432
6866	TAC3	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:432
6866	TAC3	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
6866	TAC3	HP:0002231	Sparse body hair	HP:0040281	ORPHA:432
6866	TAC3	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
6866	TAC3	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:432
6866	TAC3	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:432
6866	TAC3	HP:0003621	Juvenile onset	2/2	OMIM:146110
6866	TAC3	HP:0000802	Impotence	HP:0040281	ORPHA:432
6866	TAC3	HP:0000771	Gynecomastia	HP:0040282	ORPHA:432
6866	TAC3	HP:0000771	Gynecomastia	0/1	OMIM:146110
6866	TAC3	HP:0000739	Anxiety	HP:0040282	ORPHA:432
6866	TAC3	HP:0000716	Depression	HP:0040282	ORPHA:432
6866	TAC3	HP:0000789	Infertility	HP:0040283	OMIM:146110
6866	TAC3	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:432
6866	TAC3	HP:0000786	Primary amenorrhea	-	OMIM:614839
6866	TAC3	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
6866	TAC3	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
6866	TAC3	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:432
6866	TAC3	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:432
6866	TAC3	HP:0000823	Delayed puberty	HP:0040282	ORPHA:432
6866	TAC3	HP:0000939	Osteoporosis	HP:0040282	ORPHA:432
6866	TAC3	HP:0000938	Osteopenia	HP:0040282	ORPHA:432
6866	TAC3	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:432
6866	TAC3	HP:0040171	Decreased serum testosterone concentration	2/2	OMIM:614839
6866	TAC3	HP:0030019	Increased female libido	HP:0040281	ORPHA:432
6866	TAC3	HP:0012385	Camptodactyly	HP:0040283	ORPHA:432
6866	TAC3	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:432
6866	TAC3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:432
6866	TAC3	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:432
6866	TAC3	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:432
6866	TAC3	HP:0000458	Anosmia	HP:0040283	OMIM:614839
6866	TAC3	HP:0030344	Decreased circulating luteinizing hormone level	8/8	OMIM:614839
6866	TAC3	HP:0030341	Decreased circulating follicle stimulating hormone concentration	2/8	OMIM:614839
6868	ADAM17	HP:0003765	Psoriasiform dermatitis	HP:0040282	ORPHA:294023
6868	ADAM17	HP:0000007	Autosomal recessive inheritance	-	OMIM:614328
6868	ADAM17	HP:0031123	Recurrent gastroenteritis	HP:0040282	ORPHA:294023
6868	ADAM17	HP:0410017	Otitis externa	2/2	OMIM:614328
6868	ADAM17	HP:0410017	Otitis externa	HP:0040282	ORPHA:294023
6868	ADAM17	HP:0033194	Perioral erythema	2/2	OMIM:614328
6868	ADAM17	HP:0033195	Perianal erythema	2/2	OMIM:614328
6868	ADAM17	HP:0033117	Duodenitis	2/2	OMIM:614328
6868	ADAM17	HP:0008396	Chronic monilial nail infection	HP:0040282	ORPHA:294023
6868	ADAM17	HP:0001019	Erythroderma	2/2	OMIM:614328
6868	ADAM17	HP:0025085	Bloody diarrhea	2/2	OMIM:614328
6868	ADAM17	HP:0025085	Bloody diarrhea	HP:0040282	ORPHA:294023
6868	ADAM17	HP:0200039	Pustule	2/2	OMIM:614328
6868	ADAM17	HP:0200039	Pustule	HP:0040282	ORPHA:294023
6868	ADAM17	HP:0010783	Erythema	HP:0040282	ORPHA:294023
6868	ADAM17	HP:0011354	Generalized abnormality of skin	HP:0040282	ORPHA:294023
6868	ADAM17	HP:0100038	Slow-growing scalp hair	HP:0040282	ORPHA:294023
6868	ADAM17	HP:0011473	Villous atrophy	1/2	OMIM:614328
6868	ADAM17	HP:0003212	Increased circulating IgE concentration	2/2	OMIM:614328
6868	ADAM17	HP:0040181	Chapped lip	HP:0040282	ORPHA:294023
6868	ADAM17	HP:0040189	Scaling skin	HP:0040282	ORPHA:294023
6868	ADAM17	HP:0001508	Failure to thrive	1/2	OMIM:614328
6868	ADAM17	HP:0012390	Anal fissure	HP:0040282	ORPHA:294023
6868	ADAM17	HP:0000498	Blepharitis	2/2	OMIM:614328
6868	ADAM17	HP:0000498	Blepharitis	HP:0040282	ORPHA:294023
6868	ADAM17	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:294023
6868	ADAM17	HP:0011131	Perianal dermatitis	HP:0040282	ORPHA:294023
6868	ADAM17	HP:0005406	Recurrent bacterial skin infections	HP:0040282	ORPHA:294023
6868	ADAM17	HP:0001805	Onychogryphosis	2/2	OMIM:614328
6868	ADAM17	HP:0001805	Onychogryphosis	HP:0040282	ORPHA:294023
6868	ADAM17	HP:0001818	Paronychia	2/2	OMIM:614328
6868	ADAM17	HP:0011228	Horizontal eyebrow	HP:0040282	ORPHA:294023
6870	TACR3	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:432
6870	TACR3	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
6870	TACR3	HP:0001250	Seizure	HP:0040283	ORPHA:478
6870	TACR3	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
6870	TACR3	HP:0001251	Ataxia	HP:0040283	ORPHA:478
6870	TACR3	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
6870	TACR3	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:432
6870	TACR3	HP:0008734	Decreased testicular size	-	OMIM:614840
6870	TACR3	HP:0008734	Decreased testicular size	1/1	OMIM:146110
6870	TACR3	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
6870	TACR3	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
6870	TACR3	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:432
6870	TACR3	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:432
6870	TACR3	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:614840
6870	TACR3	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
6870	TACR3	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
6870	TACR3	HP:0000054	Micropenis	-	OMIM:614840
6870	TACR3	HP:0000054	Micropenis	1/1	OMIM:146110
6870	TACR3	HP:0000054	Micropenis	HP:0040281	ORPHA:478
6870	TACR3	HP:0000054	Micropenis	HP:0040281	ORPHA:432
6870	TACR3	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:432
6870	TACR3	HP:0000028	Cryptorchidism	-	OMIM:146110
6870	TACR3	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
6870	TACR3	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:432
6870	TACR3	HP:0000028	Cryptorchidism	-	OMIM:614840
6870	TACR3	HP:0000027	Azoospermia	HP:0040281	ORPHA:432
6870	TACR3	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:432
6870	TACR3	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
6870	TACR3	HP:0000013	Hypoplasia of the uterus	HP:0040282	ORPHA:432
6870	TACR3	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
6870	TACR3	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
6870	TACR3	HP:0000007	Autosomal recessive inheritance	-	OMIM:614840
6870	TACR3	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
6870	TACR3	HP:0001337	Tremor	HP:0040283	ORPHA:478
6870	TACR3	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
6870	TACR3	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:432
6870	TACR3	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
6870	TACR3	HP:0000175	Cleft palate	HP:0040283	ORPHA:432
6870	TACR3	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
6870	TACR3	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:432
6870	TACR3	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:432
6870	TACR3	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:432
6870	TACR3	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
6870	TACR3	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
6870	TACR3	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
6870	TACR3	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:432
6870	TACR3	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:432
6870	TACR3	HP:0008197	Absence of pubertal development	-	OMIM:614840
6870	TACR3	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:432
6870	TACR3	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
6870	TACR3	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
6870	TACR3	HP:0002231	Sparse body hair	HP:0040281	ORPHA:432
6870	TACR3	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
6870	TACR3	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:432
6870	TACR3	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:432
6870	TACR3	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
6870	TACR3	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
6870	TACR3	HP:0003621	Juvenile onset	2/2	OMIM:146110
6870	TACR3	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
6870	TACR3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
6870	TACR3	HP:0000802	Impotence	HP:0040281	ORPHA:432
6870	TACR3	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
6870	TACR3	HP:0000771	Gynecomastia	HP:0040282	ORPHA:432
6870	TACR3	HP:0000771	Gynecomastia	0/1	OMIM:146110
6870	TACR3	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
6870	TACR3	HP:0000739	Anxiety	HP:0040282	ORPHA:432
6870	TACR3	HP:0000716	Depression	HP:0040282	ORPHA:432
6870	TACR3	HP:0000789	Infertility	HP:0040283	OMIM:146110
6870	TACR3	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:432
6870	TACR3	HP:0000786	Primary amenorrhea	-	OMIM:614840
6870	TACR3	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
6870	TACR3	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
6870	TACR3	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
6870	TACR3	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
6870	TACR3	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:432
6870	TACR3	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
6870	TACR3	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
6870	TACR3	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:432
6870	TACR3	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
6870	TACR3	HP:0000823	Delayed puberty	HP:0040282	ORPHA:432
6870	TACR3	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
6870	TACR3	HP:0000939	Osteoporosis	HP:0040282	ORPHA:432
6870	TACR3	HP:0000938	Osteopenia	HP:0040282	ORPHA:432
6870	TACR3	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:432
6870	TACR3	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
6870	TACR3	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
6870	TACR3	HP:0030019	Increased female libido	HP:0040281	ORPHA:432
6870	TACR3	HP:0001513	Obesity	HP:0040283	ORPHA:478
6870	TACR3	HP:0012385	Camptodactyly	HP:0040283	ORPHA:432
6870	TACR3	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:432
6870	TACR3	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
6870	TACR3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:432
6870	TACR3	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:432
6870	TACR3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
6870	TACR3	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:432
6870	TACR3	HP:0000458	Anosmia	HP:0040281	ORPHA:478
6870	TACR3	HP:0030260	Microphallus	-	OMIM:614840
6870	TACR3	HP:0001763	Pes planus	HP:0040283	ORPHA:478
6870	TACR3	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
6870	TACR3	HP:0000508	Ptosis	HP:0040283	ORPHA:478
6870	TACR3	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
6870	TACR3	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
6872	TAF1	HP:0002451	Limb dystonia	HP:0040283	ORPHA:53351
6872	TAF1	HP:0009894	Thickened ears	5/10	OMIM:300966
6872	TAF1	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:480907
6872	TAF1	HP:0001290	Generalized hypotonia	9/10	OMIM:300966
6872	TAF1	HP:0001272	Cerebellar atrophy	4/8	OMIM:300966
6872	TAF1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:53351
6872	TAF1	HP:0001288	Gait disturbance	4/8	OMIM:300966
6872	TAF1	HP:0001250	Seizure	1/10	OMIM:300966
6872	TAF1	HP:0001250	Seizure	HP:0040283	ORPHA:480907
6872	TAF1	HP:0001251	Ataxia	2/8	OMIM:300966
6872	TAF1	HP:0001249	Intellectual disability	10/11	OMIM:300966
6872	TAF1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:480907
6872	TAF1	HP:0001264	Spastic diplegia	3/10	OMIM:300966
6872	TAF1	HP:0001264	Spastic diplegia	HP:0040283	ORPHA:480907
6872	TAF1	HP:0001263	Global developmental delay	-	OMIM:300966
6872	TAF1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:480907
6872	TAF1	HP:0001257	Spasticity	4/11	OMIM:300966
6872	TAF1	HP:0007375	Abnormal septum pellucidum morphology	1/8	OMIM:300966
6872	TAF1	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	HP:0040282	ORPHA:53351
6872	TAF1	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	-	OMIM:314250
6872	TAF1	HP:0012032	Lipoma	HP:0040283	ORPHA:480907
6872	TAF1	HP:0001385	Hip dysplasia	1/3	OMIM:300966
6872	TAF1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:480907
6872	TAF1	HP:0001382	Joint hypermobility	6/10	OMIM:300966
6872	TAF1	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:480907
6872	TAF1	HP:0008897	Postnatal growth retardation	8/10	OMIM:300966
6872	TAF1	HP:0031162	Impaired oropharyngeal swallow response	HP:0040283	ORPHA:53351
6872	TAF1	HP:0001332	Dystonia	HP:0040283	ORPHA:480907
6872	TAF1	HP:0001332	Dystonia	2/11	OMIM:300966
6872	TAF1	HP:0001337	Tremor	HP:0040283	ORPHA:480907
6872	TAF1	HP:0001337	Tremor	-	OMIM:314250
6872	TAF1	HP:0001337	Tremor	1/9	OMIM:300966
6872	TAF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
6872	TAF1	HP:0001336	Myoclonus	-	OMIM:314250
6872	TAF1	HP:0001336	Myoclonus	HP:0040282	ORPHA:53351
6872	TAF1	HP:0001304	Torsion dystonia	-	OMIM:314250
6872	TAF1	HP:0001304	Torsion dystonia	HP:0040282	ORPHA:53351
6872	TAF1	HP:0001320	Cerebellar vermis hypoplasia	3/6	OMIM:300966
6872	TAF1	HP:0002650	Scoliosis	4/10	OMIM:300966
6872	TAF1	HP:0001321	Cerebellar hypoplasia	1/11	OMIM:300966
6872	TAF1	HP:0001315	Reduced tendon reflexes	3/5	OMIM:300966
6872	TAF1	HP:0002705	High, narrow palate	8/9	OMIM:300966
6872	TAF1	HP:0001419	X-linked recessive inheritance	-	OMIM:314250
6872	TAF1	HP:0001419	X-linked recessive inheritance	-	OMIM:300966
6872	TAF1	HP:0002020	Gastroesophageal reflux	4/9	OMIM:300966
6872	TAF1	HP:0002019	Constipation	6/9	OMIM:300966
6872	TAF1	HP:0004696	Talipes cavus equinovarus	3/9	OMIM:300966
6872	TAF1	HP:0002067	Bradykinesia	HP:0040282	ORPHA:53351
6872	TAF1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040281	ORPHA:480907
6872	TAF1	HP:0002079	Hypoplasia of the corpus callosum	6/7	OMIM:300966
6872	TAF1	HP:0002072	Chorea	HP:0040282	ORPHA:53351
6872	TAF1	HP:0002072	Chorea	-	OMIM:314250
6872	TAF1	HP:0002141	Gait imbalance	4/9	OMIM:300966
6872	TAF1	HP:0002119	Ventriculomegaly	5/8	OMIM:300966
6872	TAF1	HP:0011927	Short digit	3/10	OMIM:300966
6872	TAF1	HP:0002194	Delayed gross motor development	HP:0040281	ORPHA:480907
6872	TAF1	HP:0002194	Delayed gross motor development	10/10	OMIM:300966
6872	TAF1	HP:0002172	Postural instability	HP:0040282	ORPHA:53351
6872	TAF1	HP:0011822	Broad chin	-	OMIM:300966
6872	TAF1	HP:0003577	Congenital onset	-	OMIM:300966
6872	TAF1	HP:0003581	Adult onset	-	OMIM:314250
6872	TAF1	HP:0100797	Toenail dysplasia	4/9	OMIM:300966
6872	TAF1	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:480907
6872	TAF1	HP:0200136	Oral-pharyngeal dysphagia	5/6	OMIM:300966
6872	TAF1	HP:0007018	Attention deficit hyperactivity disorder	2/8	OMIM:300966
6872	TAF1	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:53351
6872	TAF1	HP:0001057	Aplasia cutis congenita	5/10	OMIM:300966
6872	TAF1	HP:0002395	Lower limb hyperreflexia	HP:0040283	ORPHA:480907
6872	TAF1	HP:0002362	Shuffling gait	HP:0040282	ORPHA:53351
6872	TAF1	HP:0002359	Frequent falls	HP:0040283	ORPHA:53351
6872	TAF1	HP:0002378	Hand tremor	HP:0040282	ORPHA:53351
6872	TAF1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:480907
6872	TAF1	HP:0001007	Hirsutism	3/12	OMIM:300966
6872	TAF1	HP:0002322	Resting tremor	HP:0040282	ORPHA:53351
6872	TAF1	HP:0010808	Protruding tongue	HP:0040283	ORPHA:53351
6872	TAF1	HP:0007158	Progressive extrapyramidal muscular rigidity	HP:0040282	ORPHA:53351
6872	TAF1	HP:0008472	Prominent protruding coccyx	HP:0040281	ORPHA:480907
6872	TAF1	HP:0008472	Prominent protruding coccyx	10/11	OMIM:300966
6872	TAF1	HP:0008468	Abnormal sacral segmentation	HP:0040281	ORPHA:480907
6872	TAF1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
6872	TAF1	HP:0006863	Severe expressive language delay	HP:0040281	ORPHA:480907
6872	TAF1	HP:0000639	Nystagmus	2/9	OMIM:300966
6872	TAF1	HP:0000643	Blepharospasm	HP:0040282	ORPHA:53351
6872	TAF1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:480907
6872	TAF1	HP:0000664	Synophrys	HP:0040283	ORPHA:480907
6872	TAF1	HP:0000664	Synophrys	4/8	OMIM:300966
6872	TAF1	HP:0006979	Sleep-wake cycle disturbance	3/9	OMIM:300966
6872	TAF1	HP:0004373	Focal dystonia	HP:0040282	ORPHA:53351
6872	TAF1	HP:0011410	Caesarean section	6/10	OMIM:300966
6872	TAF1	HP:0000767	Pectus excavatum	2/7	OMIM:300966
6872	TAF1	HP:0000739	Anxiety	4/9	OMIM:300966
6872	TAF1	HP:0000750	Delayed speech and language development	8/8	OMIM:300966
6872	TAF1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:480907
6872	TAF1	HP:0000729	Autistic behavior	HP:0040282	ORPHA:480907
6872	TAF1	HP:0000729	Autistic behavior	7/10	OMIM:300966
6872	TAF1	HP:0004467	Preauricular pit	-	OMIM:187500
6872	TAF1	HP:0040016	Prominent coccyx	9/10	OMIM:300966
6872	TAF1	HP:0000964	Eczematoid dermatitis	3/9	OMIM:300966
6872	TAF1	HP:0000960	Sacral dimple	3/10	OMIM:300966
6872	TAF1	HP:0000938	Osteopenia	2/4	OMIM:300966
6872	TAF1	HP:0008070	Sparse hair	1/7	OMIM:300966
6872	TAF1	HP:0000286	Epicanthus	HP:0040283	ORPHA:480907
6872	TAF1	HP:0000276	Long face	HP:0040282	ORPHA:480907
6872	TAF1	HP:0000276	Long face	7/10	OMIM:300966
6872	TAF1	HP:0002808	Kyphosis	4/10	OMIM:300966
6872	TAF1	HP:0000252	Microcephaly	7/11	OMIM:300966
6872	TAF1	HP:0000252	Microcephaly	HP:0040283	ORPHA:480907
6872	TAF1	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:480907
6872	TAF1	HP:0000219	Thin upper lip vermilion	5/11	OMIM:300966
6872	TAF1	HP:0000218	High palate	HP:0040282	ORPHA:480907
6872	TAF1	HP:0001511	Intrauterine growth retardation	4/8	OMIM:300966
6872	TAF1	HP:0001513	Obesity	HP:0040283	ORPHA:480907
6872	TAF1	HP:0006511	Laryngeal stridor	HP:0040283	ORPHA:53351
6872	TAF1	HP:0000391	Thickened helices	-	OMIM:300966
6872	TAF1	HP:0000389	Chronic otitis media	6/10	OMIM:300966
6872	TAF1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:480907
6872	TAF1	HP:0000365	Hearing impairment	5/9	OMIM:300966
6872	TAF1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:480907
6872	TAF1	HP:0000369	Low-set ears	9/12	OMIM:300966
6872	TAF1	HP:0000369	Low-set ears	HP:0040281	ORPHA:480907
6872	TAF1	HP:0000343	Long philtrum	HP:0040282	ORPHA:480907
6872	TAF1	HP:0000343	Long philtrum	7/10	OMIM:300966
6872	TAF1	HP:0000337	Broad forehead	-	OMIM:187500
6872	TAF1	HP:0000336	Prominent supraorbital ridges	7/10	OMIM:300966
6872	TAF1	HP:0000336	Prominent supraorbital ridges	HP:0040282	ORPHA:480907
6872	TAF1	HP:0000347	Micrognathia	HP:0040283	ORPHA:480907
6872	TAF1	HP:0000316	Hypertelorism	4/11	OMIM:300966
6872	TAF1	HP:0000308	Microretrognathia	4/9	OMIM:300966
6872	TAF1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
6872	TAF1	HP:0000307	Pointed chin	HP:0040282	ORPHA:480907
6872	TAF1	HP:0000307	Pointed chin	7/11	OMIM:300966
6872	TAF1	HP:0000400	Macrotia	-	OMIM:300966
6872	TAF1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:480907
6872	TAF1	HP:0000486	Strabismus	8/12	OMIM:300966
6872	TAF1	HP:0000486	Strabismus	HP:0040282	ORPHA:480907
6872	TAF1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:480907
6872	TAF1	HP:0000494	Downslanted palpebral fissures	7/10	OMIM:300966
6872	TAF1	HP:0000496	Abnormality of eye movement	3/8	OMIM:300966
6872	TAF1	HP:0000490	Deeply set eye	HP:0040283	ORPHA:480907
6872	TAF1	HP:0000490	Deeply set eye	7/14	OMIM:300966
6872	TAF1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:480907
6872	TAF1	HP:0000463	Anteverted nares	8/11	OMIM:300966
6872	TAF1	HP:0000455	Broad nasal tip	HP:0040283	ORPHA:480907
6872	TAF1	HP:0000455	Broad nasal tip	-	OMIM:300966
6872	TAF1	HP:0000470	Short neck	5/11	OMIM:300966
6872	TAF1	HP:0000437	Depressed nasal tip	-	OMIM:300966
6872	TAF1	HP:0000414	Bulbous nose	HP:0040283	ORPHA:480907
6872	TAF1	HP:0000414	Bulbous nose	-	OMIM:300966
6872	TAF1	HP:0000411	Protruding ear	HP:0040281	ORPHA:480907
6872	TAF1	HP:0000411	Protruding ear	11/12	OMIM:300966
6872	TAF1	HP:0005469	Flat occiput	1/6	OMIM:300966
6872	TAF1	HP:0000527	Long eyelashes	HP:0040283	ORPHA:480907
6872	TAF1	HP:0000520	Proptosis	-	OMIM:187500
6872	TAF1	HP:0000520	Proptosis	-	OMIM:300966
6872	TAF1	HP:0000579	Nasolacrimal duct obstruction	1/8	OMIM:300966
6872	TAF1	HP:0011220	Prominent forehead	5/10	OMIM:300966
6872	TAF1	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:480907
6872	TAF1	HP:0000545	Myopia	4/7	OMIM:300966
6873	TAF2	HP:0002465	Poor speech	HP:0040282	ORPHA:397951
6873	TAF2	HP:0007256	Abnormal pyramidal sign	1/4	OMIM:615599
6873	TAF2	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:397951
6873	TAF2	HP:0001249	Intellectual disability	6/6	OMIM:615599
6873	TAF2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:397951
6873	TAF2	HP:0001263	Global developmental delay	4/4	OMIM:615599
6873	TAF2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:397951
6873	TAF2	HP:0001257	Spasticity	3/4	OMIM:615599
6873	TAF2	HP:0001257	Spasticity	HP:0040282	ORPHA:397951
6873	TAF2	HP:0001347	Hyperreflexia	2/4	OMIM:615599
6873	TAF2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:397951
6873	TAF2	HP:0001344	Absent speech	HP:0040282	ORPHA:397951
6873	TAF2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615599
6873	TAF2	HP:0002079	Hypoplasia of the corpus callosum	4/4	OMIM:615599
6873	TAF2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:397951
6873	TAF2	HP:0002059	Cerebral atrophy	1/4	OMIM:615599
6873	TAF2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:397951
6873	TAF2	HP:0003487	Babinski sign	1/4	OMIM:615599
6873	TAF2	HP:0003487	Babinski sign	HP:0040282	ORPHA:397951
6873	TAF2	HP:0002188	Delayed CNS myelination	3/4	OMIM:615599
6873	TAF2	HP:0003593	Infantile onset	2/4	OMIM:615599
6873	TAF2	HP:0000639	Nystagmus	1/4	OMIM:615599
6873	TAF2	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:397951
6873	TAF2	HP:0000750	Delayed speech and language development	4/4	OMIM:615599
6873	TAF2	HP:0011461	Fetal onset	2/4	OMIM:615599
6873	TAF2	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:397951
6873	TAF2	HP:0000238	Hydrocephalus	1/4	OMIM:615599
6873	TAF2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:397951
6873	TAF2	HP:0000252	Microcephaly	2/2	OMIM:615599
6873	TAF2	HP:0001650	Aortic valve stenosis	1/4	OMIM:615599
6873	TAF2	HP:0001647	Bicuspid aortic valve	1/4	OMIM:615599
6873	TAF2	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:397951
6873	TAF2	HP:0012448	Delayed myelination	HP:0040282	ORPHA:397951
6873	TAF2	HP:0001760	Abnormal foot morphology	2/2	OMIM:615599
6873	TAF2	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:397951
6873	TAF2	HP:0005484	Secondary microcephaly	4/4	OMIM:615599
6873	TAF2	HP:0005484	Secondary microcephaly	HP:0040282	ORPHA:397951
6873	TAF2	HP:0000577	Exotropia	HP:0040283	ORPHA:397951
6874	TAF4	HP:0002474	Expressive language delay	1/1	OMIM:620450
6874	TAF4	HP:0100962	Excessive shyness	3/3	OMIM:620450
6874	TAF4	HP:0008551	Microtia	1/1	OMIM:620450
6874	TAF4	HP:0001256	Intellectual disability, mild	1/1	OMIM:620450
6874	TAF4	HP:0001250	Seizure	0/3	OMIM:620450
6874	TAF4	HP:0001252	Hypotonia	1/1	OMIM:620450
6874	TAF4	HP:0001249	Intellectual disability	5/6	OMIM:620450
6874	TAF4	HP:0001257	Spasticity	1/1	OMIM:620450
6874	TAF4	HP:0002553	Highly arched eyebrow	5/5	OMIM:620450
6874	TAF4	HP:0000098	Tall stature	1/1	OMIM:620450
6874	TAF4	HP:0000072	Hydroureter	1/1	OMIM:620450
6874	TAF4	HP:0001377	Limited elbow extension	1/1	OMIM:620450
6874	TAF4	HP:0001371	Flexion contracture	1/1	OMIM:620450
6874	TAF4	HP:0025336	Delayed ability to sit	4/5	OMIM:620450
6874	TAF4	HP:0001382	Joint hypermobility	3/3	OMIM:620450
6874	TAF4	HP:0000023	Inguinal hernia	1/1	OMIM:620450
6874	TAF4	HP:0000028	Cryptorchidism	1/1	OMIM:620450
6874	TAF4	HP:0006237	Prominent interphalangeal joints	1/1	OMIM:620450
6874	TAF4	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:620450
6874	TAF4	HP:0000006	Autosomal dominant inheritance	-	OMIM:620450
6874	TAF4	HP:0001320	Cerebellar vermis hypoplasia	1/1	OMIM:620450
6874	TAF4	HP:0002650	Scoliosis	1/1	OMIM:620450
6874	TAF4	HP:0000185	Cleft soft palate	1/1	OMIM:620450
6874	TAF4	HP:0000179	Thick lower lip vermilion	1/1	OMIM:620450
6874	TAF4	HP:0007598	Bilateral single transverse palmar creases	1/1	OMIM:620450
6874	TAF4	HP:0032521	Self hugging	1/1	OMIM:620450
6874	TAF4	HP:0002750	Delayed skeletal maturation	1/1	OMIM:620450
6874	TAF4	HP:0002019	Constipation	1/1	OMIM:620450
6874	TAF4	HP:0004691	2-3 toe syndactyly	1/1	OMIM:620450
6874	TAF4	HP:0002002	Deep philtrum	3/3	OMIM:620450
6874	TAF4	HP:0002000	Short columella	1/1	OMIM:620450
6874	TAF4	HP:0003307	Hyperlordosis	1/1	OMIM:620450
6874	TAF4	HP:0002186	Apraxia	1/1	OMIM:620450
6874	TAF4	HP:0011856	Pica	1/1	OMIM:620450
6874	TAF4	HP:0001060	Axillary pterygium	1/1	OMIM:620450
6874	TAF4	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2/2	OMIM:620450
6874	TAF4	HP:0002342	Intellectual disability, moderate	1/1	OMIM:620450
6874	TAF4	HP:0010806	U-Shaped upper lip vermilion	1/1	OMIM:620450
6874	TAF4	HP:0002307	Drooling	2/2	OMIM:620450
6874	TAF4	HP:0004942	Aortic aneurysm	1/1	OMIM:620450
6874	TAF4	HP:0004209	Clinodactyly of the 5th finger	1/1	OMIM:620450
6874	TAF4	HP:0006855	Cerebellar vermis atrophy	1/1	OMIM:620450
6874	TAF4	HP:0000637	Long palpebral fissure	1/1	OMIM:620450
6874	TAF4	HP:0000687	Widely spaced teeth	1/1	OMIM:620450
6874	TAF4	HP:0000664	Synophrys	1/1	OMIM:620450
6874	TAF4	HP:0004322	Short stature	1/1	OMIM:620450
6874	TAF4	HP:0031936	Delayed ability to walk	3/3	OMIM:620450
6874	TAF4	HP:0012745	Short palpebral fissure	2/2	OMIM:620450
6874	TAF4	HP:0100023	Recurrent hand flapping	1/1	OMIM:620450
6874	TAF4	HP:0000750	Delayed speech and language development	6/6	OMIM:620450
6874	TAF4	HP:0000742	Self-mutilation	1/1	OMIM:620450
6874	TAF4	HP:0000718	Aggressive behavior	1/1	OMIM:620450
6874	TAF4	HP:0000717	Autism	1/3	OMIM:620450
6874	TAF4	HP:0000729	Autistic behavior	2/2	OMIM:620450
6874	TAF4	HP:0011462	Young adult onset	1/1	OMIM:620450
6874	TAF4	HP:0012771	Increased arm span	1/1	OMIM:620450
6874	TAF4	HP:0000774	Narrow chest	1/1	OMIM:620450
6874	TAF4	HP:0003189	Long nose	2/2	OMIM:620450
6874	TAF4	HP:0010296	Ankyloglossia	1/1	OMIM:620450
6874	TAF4	HP:0040080	Anteverted ears	1/1	OMIM:620450
6874	TAF4	HP:0000995	Melanocytic nevus	1/1	OMIM:620450
6874	TAF4	HP:0000957	Cafe-au-lait spot	1/1	OMIM:620450
6874	TAF4	HP:0045025	Narrow palpebral fissure	1/1	OMIM:620450
6874	TAF4	HP:0034373	External tibial torsion	1/1	OMIM:620450
6874	TAF4	HP:0000278	Retrognathia	2/2	OMIM:620450
6874	TAF4	HP:0000289	Broad philtrum	1/1	OMIM:620450
6874	TAF4	HP:0002808	Kyphosis	1/1	OMIM:620450
6874	TAF4	HP:0006380	Knee flexion contracture	1/1	OMIM:620450
6874	TAF4	HP:0000252	Microcephaly	1/1	OMIM:620450
6874	TAF4	HP:0000218	High palate	1/1	OMIM:620450
6874	TAF4	HP:0000232	Everted lower lip vermilion	1/1	OMIM:620450
6874	TAF4	HP:0030051	Tip-toe gait	1/1	OMIM:620450
6874	TAF4	HP:0011094	Increased overbite	1/1	OMIM:620450
6874	TAF4	HP:0002938	Lumbar hyperlordosis	1/1	OMIM:620450
6874	TAF4	HP:0002944	Thoracolumbar scoliosis	1/1	OMIM:620450
6874	TAF4	HP:0000358	Posteriorly rotated ears	2/2	OMIM:620450
6874	TAF4	HP:0000369	Low-set ears	1/1	OMIM:620450
6874	TAF4	HP:0000319	Smooth philtrum	1/1	OMIM:620450
6874	TAF4	HP:0000331	Short chin	1/1	OMIM:620450
6874	TAF4	HP:0000322	Short philtrum	2/2	OMIM:620450
6874	TAF4	HP:0006610	Wide intermamillary distance	1/1	OMIM:620450
6874	TAF4	HP:0000403	Recurrent otitis media	1/1	OMIM:620450
6874	TAF4	HP:0000405	Conductive hearing impairment	1/1	OMIM:620450
6874	TAF4	HP:0000400	Macrotia	2/2	OMIM:620450
6874	TAF4	HP:0012471	Thick vermilion border	1/1	OMIM:620450
6874	TAF4	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:620450
6874	TAF4	HP:0000490	Deeply set eye	1/1	OMIM:620450
6874	TAF4	HP:0000463	Anteverted nares	1/1	OMIM:620450
6874	TAF4	HP:0001763	Pes planus	1/1	OMIM:620450
6874	TAF4	HP:0012412	Premature adrenarche	1/1	OMIM:620450
6874	TAF4	HP:0000448	Prominent nose	1/1	OMIM:620450
6874	TAF4	HP:0000444	Convex nasal ridge	3/3	OMIM:620450
6874	TAF4	HP:0000445	Wide nose	1/1	OMIM:620450
6874	TAF4	HP:0000431	Wide nasal bridge	1/1	OMIM:620450
6874	TAF4	HP:0000430	Underdeveloped nasal alae	1/1	OMIM:620450
6874	TAF4	HP:0000426	Prominent nasal bridge	4/4	OMIM:620450
6874	TAF4	HP:0000582	Upslanted palpebral fissure	2/2	OMIM:620450
6874	TAF4	HP:0011225	Epiblepharon	1/1	OMIM:620450
6874	TAF4	HP:0000574	Thick eyebrow	1/1	OMIM:620450
6874	TAF4	HP:0000540	Hypermetropia	2/2	OMIM:620450
6874	TAF4	HP:0001863	Toe clinodactyly	2/2	OMIM:620450
6875	TAF4B	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
6875	TAF4B	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
6875	TAF4B	HP:0000027	Azoospermia	3/4	OMIM:615841
6875	TAF4B	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
6875	TAF4B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615841
6875	TAF4B	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
6875	TAF4B	HP:0008232	Elevated circulating follicle stimulating hormone level	4/4	OMIM:615841
6875	TAF4B	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
6875	TAF4B	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
6875	TAF4B	HP:0011462	Young adult onset	4/4	OMIM:615841
6875	TAF4B	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
6875	TAF4B	HP:0040086	Abnormal prolactin level	0/4	OMIM:615841
6875	TAF4B	HP:0003251	Male infertility	3/4	OMIM:615841
6875	TAF4B	HP:0030087	Abnormal circulating testosterone concentration	0/4	OMIM:615841
6875	TAF4B	HP:0030345	Abnormal circulating luteinizing hormone concentration	0/4	OMIM:615841
6878	TAF6	HP:0002465	Poor speech	-	OMIM:617126
6878	TAF6	HP:0001249	Intellectual disability	4/4	OMIM:617126
6878	TAF6	HP:0001263	Global developmental delay	2/2	OMIM:617126
6878	TAF6	HP:0002553	Highly arched eyebrow	1/4	OMIM:617126
6878	TAF6	HP:0000028	Cryptorchidism	1/4	OMIM:617126
6878	TAF6	HP:0000007	Autosomal recessive inheritance	-	OMIM:617126
6878	TAF6	HP:0001319	Neonatal hypotonia	-	OMIM:617126
6878	TAF6	HP:0000160	Narrow mouth	1/4	OMIM:617126
6878	TAF6	HP:0001007	Hirsutism	4/4	OMIM:617126
6878	TAF6	HP:0009765	Low hanging columella	3/4	OMIM:617126
6878	TAF6	HP:0010055	Broad hallux	3/4	OMIM:617126
6878	TAF6	HP:0000678	Dental crowding	-	OMIM:617126
6878	TAF6	HP:0000664	Synophrys	4/4	OMIM:617126
6878	TAF6	HP:0004322	Short stature	1/4	OMIM:617126
6878	TAF6	HP:0000752	Hyperactivity	-	OMIM:617126
6878	TAF6	HP:0000954	Single transverse palmar crease	1/4	OMIM:617126
6878	TAF6	HP:0000294	Low anterior hairline	3/4	OMIM:617126
6878	TAF6	HP:0000252	Microcephaly	1/4	OMIM:617126
6878	TAF6	HP:0000219	Thin upper lip vermilion	1/4	OMIM:617126
6878	TAF6	HP:0000218	High palate	-	OMIM:617126
6878	TAF6	HP:0000343	Long philtrum	1/4	OMIM:617126
6878	TAF6	HP:0000448	Prominent nose	4/4	OMIM:617126
6878	TAF6	HP:0000430	Underdeveloped nasal alae	-	OMIM:617126
6878	TAF6	HP:0000426	Prominent nasal bridge	-	OMIM:617126
6878	TAF6	HP:0000527	Long eyelashes	1/4	OMIM:617126
6878	TAF6	HP:0000574	Thick eyebrow	3/4	OMIM:617126
6884	TAF13	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
6884	TAF13	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
6884	TAF13	HP:0001256	Intellectual disability, mild	4/4	OMIM:617432
6884	TAF13	HP:0001263	Global developmental delay	4/4	OMIM:617432
6884	TAF13	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
6884	TAF13	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
6884	TAF13	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
6884	TAF13	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
6884	TAF13	HP:0000007	Autosomal recessive inheritance	-	OMIM:617432
6884	TAF13	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
6884	TAF13	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
6884	TAF13	HP:0002750	Delayed skeletal maturation	3/3	OMIM:617432
6884	TAF13	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
6884	TAF13	HP:0002188	Delayed CNS myelination	1/2	OMIM:617432
6884	TAF13	HP:0003593	Infantile onset	4/4	OMIM:617432
6884	TAF13	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
6884	TAF13	HP:0004322	Short stature	-	OMIM:617432
6884	TAF13	HP:0004322	Short stature	HP:0040281	ORPHA:2512
6884	TAF13	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
6884	TAF13	HP:0000823	Delayed puberty	3/3	OMIM:617432
6884	TAF13	HP:0000252	Microcephaly	4/4	OMIM:617432
6884	TAF13	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
6884	TAF13	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
6884	TAF13	HP:0001518	Small for gestational age	4/4	OMIM:617432
6884	TAF13	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
6884	TAF13	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
6884	TAF13	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
6885	MAP3K7	HP:0001156	Brachydactyly	5/5	OMIM:157800
6885	MAP3K7	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3238
6885	MAP3K7	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6885	MAP3K7	HP:0001293	Cranial nerve compression	-	OMIM:131300
6885	MAP3K7	HP:0100807	Long fingers	HP:0040281	ORPHA:1826
6885	MAP3K7	HP:0001256	Intellectual disability, mild	4/18	OMIM:617137
6885	MAP3K7	HP:0001252	Hypotonia	1/1	OMIM:157800
6885	MAP3K7	HP:0001252	Hypotonia	2/7	OMIM:615777
6885	MAP3K7	HP:0001249	Intellectual disability	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0001249	Intellectual disability	5/7	OMIM:615777
6885	MAP3K7	HP:0002578	Gastroparesis	1/1	OMIM:157800
6885	MAP3K7	HP:0001263	Global developmental delay	-	OMIM:615777
6885	MAP3K7	HP:0001239	Wrist flexion contracture	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0008734	Decreased testicular size	2/2	OMIM:157800
6885	MAP3K7	HP:0006070	Metacarpophalangeal joint contracture	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0008661	Urethral stenosis	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0006000	Ureteral obstruction	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0006006	Hypotrophy of the small hand muscles	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0001220	Interphalangeal joint contracture of finger	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0002515	Waddling gait	54/102	OMIM:131300
6885	MAP3K7	HP:0000085	Horseshoe kidney	1/6	OMIM:157800
6885	MAP3K7	HP:0000076	Vesicoureteral reflux	1/6	OMIM:157800
6885	MAP3K7	HP:0001374	Congenital hip dislocation	-	OMIM:617137
6885	MAP3K7	HP:0001382	Joint hypermobility	6/6	OMIM:157800
6885	MAP3K7	HP:0001382	Joint hypermobility	-	OMIM:615777
6885	MAP3K7	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6885	MAP3K7	HP:0002694	Sclerosis of skull base	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0000028	Cryptorchidism	HP:0040283	OMIM:617137
6885	MAP3K7	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6885	MAP3K7	HP:0008872	Feeding difficulties in infancy	HP:0040283	OMIM:617137
6885	MAP3K7	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6885	MAP3K7	HP:0001324	Muscle weakness	40/96	OMIM:131300
6885	MAP3K7	HP:0000011	Neurogenic bladder	HP:0040283	OMIM:617137
6885	MAP3K7	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6885	MAP3K7	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6885	MAP3K7	HP:0000006	Autosomal dominant inheritance	-	OMIM:157800
6885	MAP3K7	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6885	MAP3K7	HP:0000006	Autosomal dominant inheritance	-	OMIM:617137
6885	MAP3K7	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:1826
6885	MAP3K7	HP:0002650	Scoliosis	HP:0040281	ORPHA:1826
6885	MAP3K7	HP:0002650	Scoliosis	2/5	OMIM:157800
6885	MAP3K7	HP:0002650	Scoliosis	13/16	OMIM:617137
6885	MAP3K7	HP:0002650	Scoliosis	12/14	OMIM:131300
6885	MAP3K7	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6885	MAP3K7	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6885	MAP3K7	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6885	MAP3K7	HP:0000193	Bifid uvula	5/17	OMIM:617137
6885	MAP3K7	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6885	MAP3K7	HP:0000193	Bifid uvula	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0000175	Cleft palate	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0000175	Cleft palate	5/17	OMIM:617137
6885	MAP3K7	HP:0000175	Cleft palate	2/7	OMIM:615777
6885	MAP3K7	HP:0000154	Wide mouth	1/1	OMIM:157800
6885	MAP3K7	HP:0006352	Failure of eruption of permanent teeth	HP:0040282	ORPHA:3238
6885	MAP3K7	HP:0008952	Shoulder muscle hypoplasia	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0002705	High, narrow palate	HP:0040281	ORPHA:3238
6885	MAP3K7	HP:0006248	Limited wrist movement	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0002777	Tracheal stenosis	-	OMIM:617137
6885	MAP3K7	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0002750	Delayed skeletal maturation	3/5	OMIM:157800
6885	MAP3K7	HP:0002021	Pyloric stenosis	HP:0040283	OMIM:617137
6885	MAP3K7	HP:0002020	Gastroesophageal reflux	HP:0040283	OMIM:617137
6885	MAP3K7	HP:0002020	Gastroesophageal reflux	5/6	OMIM:157800
6885	MAP3K7	HP:0002002	Deep philtrum	-	OMIM:617137
6885	MAP3K7	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:3238
6885	MAP3K7	HP:0003388	Easy fatigability	36/76	OMIM:131300
6885	MAP3K7	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6885	MAP3K7	HP:0009487	Ulnar deviation of the hand	-	OMIM:617137
6885	MAP3K7	HP:0009487	Ulnar deviation of the hand	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0009473	Joint contracture of the hand	HP:0040281	ORPHA:1826
6885	MAP3K7	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0010562	Keloids	8/18	OMIM:617137
6885	MAP3K7	HP:0010562	Keloids	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0010505	Limitation of movement at ankles	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0010501	Limitation of knee mobility	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0010579	Cone-shaped epiphysis	1/3	OMIM:157800
6885	MAP3K7	HP:0010584	Pseudoepiphyses	-	OMIM:157800
6885	MAP3K7	HP:0003577	Congenital onset	6/6	OMIM:157800
6885	MAP3K7	HP:0009702	Carpal synostosis	4/5	OMIM:157800
6885	MAP3K7	HP:0008368	Tarsal synostosis	3/4	OMIM:157800
6885	MAP3K7	HP:0011968	Feeding difficulties	5/5	OMIM:157800
6885	MAP3K7	HP:0009650	Short distal phalanx of the thumb	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0003510	Severe short stature	7/7	OMIM:615777
6885	MAP3K7	HP:0003510	Severe short stature	HP:0040281	ORPHA:3238
6885	MAP3K7	HP:0001007	Hirsutism	HP:0040283	OMIM:617137
6885	MAP3K7	HP:0002315	Headache	-	OMIM:131300
6885	MAP3K7	HP:0004976	Knee dislocation	6/7	OMIM:615777
6885	MAP3K7	HP:0008527	Congenital sensorineural hearing impairment	5/5	OMIM:157800
6885	MAP3K7	HP:0009803	Short phalanx of finger	-	OMIM:615777
6885	MAP3K7	HP:0009803	Short phalanx of finger	HP:0040281	ORPHA:1826
6885	MAP3K7	HP:0008441	Herniation of intervertebral nuclei	1/1	OMIM:157800
6885	MAP3K7	HP:0010743	Short metatarsal	-	OMIM:617137
6885	MAP3K7	HP:0010743	Short metatarsal	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0009763	Limb pain	63/92	OMIM:131300
6885	MAP3K7	HP:0002308	Chiari malformation	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0003621	Juvenile onset	-	OMIM:131300
6885	MAP3K7	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6885	MAP3K7	HP:0004279	Short palm	HP:0040281	ORPHA:3238
6885	MAP3K7	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6885	MAP3K7	HP:6001056	Out-toeing	-	OMIM:131300
6885	MAP3K7	HP:0000651	Diplopia	-	OMIM:131300
6885	MAP3K7	HP:0000646	Amblyopia	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0000629	Periorbital fullness	6/6	OMIM:157800
6885	MAP3K7	HP:0001956	Truncal obesity	2/7	OMIM:615777
6885	MAP3K7	HP:0001903	Anemia	HP:0040283	OMIM:131300
6885	MAP3K7	HP:0010049	Short metacarpal	-	OMIM:617137
6885	MAP3K7	HP:0010049	Short metacarpal	-	OMIM:615777
6885	MAP3K7	HP:0010049	Short metacarpal	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0011387	Enlarged vestibular aqueduct	1/5	OMIM:157800
6885	MAP3K7	HP:0000678	Dental crowding	-	OMIM:615777
6885	MAP3K7	HP:0000677	Oligodontia	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0000692	Tooth malposition	HP:0040282	ORPHA:3238
6885	MAP3K7	HP:0009004	Hypoplasia of the musculature	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0000670	Carious teeth	-	OMIM:131300
6885	MAP3K7	HP:0011304	Broad thumb	15/16	OMIM:617137
6885	MAP3K7	HP:0011304	Broad thumb	2/7	OMIM:615777
6885	MAP3K7	HP:0011304	Broad thumb	HP:0040281	ORPHA:1826
6885	MAP3K7	HP:0000668	Hypodontia	-	OMIM:615777
6885	MAP3K7	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:1826
6885	MAP3K7	HP:0000664	Synophrys	-	OMIM:615777
6885	MAP3K7	HP:0004322	Short stature	5/5	OMIM:157800
6885	MAP3K7	HP:0003083	Dislocated radial head	18/18	OMIM:617137
6885	MAP3K7	HP:0003083	Dislocated radial head	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0004396	Poor appetite	-	OMIM:131300
6885	MAP3K7	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6885	MAP3K7	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6885	MAP3K7	HP:0003015	Flared metaphysis	13/14	OMIM:617137
6885	MAP3K7	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6885	MAP3K7	HP:0003016	Metaphyseal widening	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0003026	Short long bone	7/7	OMIM:615777
6885	MAP3K7	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6885	MAP3K7	HP:0000767	Pectus excavatum	HP:0040284	OMIM:617137
6885	MAP3K7	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6885	MAP3K7	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6885	MAP3K7	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6885	MAP3K7	HP:0000750	Delayed speech and language development	-	OMIM:615777
6885	MAP3K7	HP:0011461	Fetal onset	7/7	OMIM:615777
6885	MAP3K7	HP:0011461	Fetal onset	1/1	OMIM:157800
6885	MAP3K7	HP:0000774	Narrow chest	2/7	OMIM:615777
6885	MAP3K7	HP:0000776	Congenital diaphragmatic hernia	1/6	OMIM:157800
6885	MAP3K7	HP:0030732	Dysplastic tricuspid valve	1/1	OMIM:157800
6885	MAP3K7	HP:0003199	Decreased muscle mass	HP:0040283	OMIM:617137
6885	MAP3K7	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0000926	Platyspondyly	1/7	OMIM:615777
6885	MAP3K7	HP:0003180	Flat acetabular roof	-	OMIM:615777
6885	MAP3K7	HP:0000902	Rib fusion	-	OMIM:157800
6885	MAP3K7	HP:0004482	Relative macrocephaly	-	OMIM:615777
6885	MAP3K7	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6885	MAP3K7	HP:0000823	Delayed puberty	HP:0040283	OMIM:617137
6885	MAP3K7	HP:0000823	Delayed puberty	-	OMIM:131300
6885	MAP3K7	HP:0040019	Finger clinodactyly	-	OMIM:617137
6885	MAP3K7	HP:0000894	Short clavicles	-	OMIM:615777
6885	MAP3K7	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6885	MAP3K7	HP:0034391	Elbow contracture	18/18	OMIM:617137
6885	MAP3K7	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0003273	Hip contracture	-	OMIM:617137
6885	MAP3K7	HP:0010307	Stridor	6/15	OMIM:617137
6885	MAP3K7	HP:0000977	Soft skin	1/1	OMIM:157800
6885	MAP3K7	HP:0011623	Muscular ventricular septal defect	1/1	OMIM:157800
6885	MAP3K7	HP:0100279	Ulcerative colitis	HP:0040283	OMIM:617137
6885	MAP3K7	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6885	MAP3K7	HP:0000941	Short diaphyses	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0008081	Pes valgus	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0000286	Epicanthus	1/1	OMIM:157800
6885	MAP3K7	HP:0000286	Epicanthus	1/7	OMIM:615777
6885	MAP3K7	HP:0000280	Coarse facial features	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0000280	Coarse facial features	2/7	OMIM:615777
6885	MAP3K7	HP:0000293	Full cheeks	HP:0040283	OMIM:617137
6885	MAP3K7	HP:0000293	Full cheeks	6/6	OMIM:157800
6885	MAP3K7	HP:0000293	Full cheeks	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0000294	Low anterior hairline	HP:0040283	OMIM:617137
6885	MAP3K7	HP:0002827	Hip dislocation	3/7	OMIM:615777
6885	MAP3K7	HP:0006383	Progressive bowing of long bones	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0005048	Synostosis of carpal bones	HP:0040281	ORPHA:3238
6885	MAP3K7	HP:0000252	Microcephaly	-	OMIM:615777
6885	MAP3K7	HP:0000218	High palate	HP:0040283	OMIM:617137
6885	MAP3K7	HP:0001558	Decreased fetal movement	1/1	OMIM:157800
6885	MAP3K7	HP:0002857	Genu valgum	-	OMIM:131300
6885	MAP3K7	HP:0001533	Slender build	-	OMIM:131300
6885	MAP3K7	HP:0000201	Pierre-Robin sequence	HP:0040283	OMIM:617137
6885	MAP3K7	HP:0001508	Failure to thrive	6/6	OMIM:157800
6885	MAP3K7	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6885	MAP3K7	HP:0001510	Growth delay	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0007807	Optic nerve compression	-	OMIM:131300
6885	MAP3K7	HP:0012385	Camptodactyly	-	OMIM:617137
6885	MAP3K7	HP:0012368	Flat face	7/7	OMIM:615777
6885	MAP3K7	HP:0000377	Abnormal pinna morphology	HP:0040283	OMIM:617137
6885	MAP3K7	HP:0001607	Subglottic stenosis	6/15	OMIM:617137
6885	MAP3K7	HP:0001607	Subglottic stenosis	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6885	MAP3K7	HP:0002949	Fused cervical vertebrae	9/15	OMIM:617137
6885	MAP3K7	HP:0002949	Fused cervical vertebrae	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0002949	Fused cervical vertebrae	5/5	OMIM:157800
6885	MAP3K7	HP:0000365	Hearing impairment	HP:0040281	ORPHA:1826
6885	MAP3K7	HP:0000365	Hearing impairment	10/67	OMIM:131300
6885	MAP3K7	HP:0000358	Posteriorly rotated ears	6/7	OMIM:157800
6885	MAP3K7	HP:0000369	Low-set ears	1/1	OMIM:157800
6885	MAP3K7	HP:0000369	Low-set ears	HP:0040283	OMIM:617137
6885	MAP3K7	HP:0000343	Long philtrum	6/7	OMIM:157800
6885	MAP3K7	HP:0000343	Long philtrum	1/7	OMIM:615777
6885	MAP3K7	HP:0011001	Increased bone mineral density	-	OMIM:131300
6885	MAP3K7	HP:0000336	Prominent supraorbital ridges	18/18	OMIM:617137
6885	MAP3K7	HP:0000336	Prominent supraorbital ridges	HP:0040281	ORPHA:1826
6885	MAP3K7	HP:0002996	Limited elbow movement	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0000347	Micrognathia	HP:0040281	ORPHA:1826
6885	MAP3K7	HP:0012304	Hypoplastic aortic arch	1/1	OMIM:157800
6885	MAP3K7	HP:0001647	Bicuspid aortic valve	-	OMIM:617137
6885	MAP3K7	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1826
6885	MAP3K7	HP:0000316	Hypertelorism	5/6	OMIM:157800
6885	MAP3K7	HP:0000316	Hypertelorism	18/18	OMIM:617137
6885	MAP3K7	HP:0001643	Patent ductus arteriosus	-	OMIM:617137
6885	MAP3K7	HP:0000311	Round face	2/7	OMIM:615777
6885	MAP3K7	HP:0001642	Pulmonic stenosis	-	OMIM:617137
6885	MAP3K7	HP:0000331	Short chin	13/17	OMIM:617137
6885	MAP3K7	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0000322	Short philtrum	-	OMIM:617137
6885	MAP3K7	HP:0001653	Mitral regurgitation	-	OMIM:157800
6885	MAP3K7	HP:0001653	Mitral regurgitation	HP:0040281	ORPHA:3238
6885	MAP3K7	HP:0001655	Patent foramen ovale	-	OMIM:617137
6885	MAP3K7	HP:0001655	Patent foramen ovale	1/1	OMIM:157800
6885	MAP3K7	HP:0001629	Ventricular septal defect	1/6	OMIM:157800
6885	MAP3K7	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0002970	Genu varum	-	OMIM:615777
6885	MAP3K7	HP:0000307	Pointed chin	-	OMIM:617137
6885	MAP3K7	HP:0001631	Atrial septal defect	1/6	OMIM:157800
6885	MAP3K7	HP:0000303	Mandibular prognathia	-	OMIM:131300
6885	MAP3K7	HP:0001634	Mitral valve prolapse	HP:0040281	ORPHA:3238
6885	MAP3K7	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0000407	Sensorineural hearing impairment	15/16	OMIM:617137
6885	MAP3K7	HP:0000403	Recurrent otitis media	3/5	OMIM:157800
6885	MAP3K7	HP:0000405	Conductive hearing impairment	-	OMIM:157800
6885	MAP3K7	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:3238
6885	MAP3K7	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:1826
6885	MAP3K7	HP:0000405	Conductive hearing impairment	-	OMIM:617137
6885	MAP3K7	HP:0005278	Hypoplastic nasal tip	1/1	OMIM:157800
6885	MAP3K7	HP:0005280	Depressed nasal bridge	-	OMIM:617137
6885	MAP3K7	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6885	MAP3K7	HP:0000483	Astigmatism	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0000486	Strabismus	3/6	OMIM:157800
6885	MAP3K7	HP:0000481	Abnormal cornea morphology	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:1826
6885	MAP3K7	HP:0000494	Downslanted palpebral fissures	16/18	OMIM:617137
6885	MAP3K7	HP:0000463	Anteverted nares	5/7	OMIM:157800
6885	MAP3K7	HP:0000455	Broad nasal tip	-	OMIM:617137
6885	MAP3K7	HP:0000470	Short neck	1/7	OMIM:615777
6885	MAP3K7	HP:0000465	Webbed neck	HP:0040283	OMIM:617137
6885	MAP3K7	HP:0001773	Short foot	-	OMIM:157800
6885	MAP3K7	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6885	MAP3K7	HP:0001763	Pes planus	1/7	OMIM:615777
6885	MAP3K7	HP:0000414	Bulbous nose	1/1	OMIM:157800
6885	MAP3K7	HP:0000410	Mixed hearing impairment	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0001762	Talipes equinovarus	-	OMIM:617137
6885	MAP3K7	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1826
6885	MAP3K7	HP:0000431	Wide nasal bridge	18/18	OMIM:617137
6885	MAP3K7	HP:0000431	Wide nasal bridge	1/1	OMIM:157800
6885	MAP3K7	HP:0001761	Pes cavus	HP:0040283	ORPHA:1826
6885	MAP3K7	HP:0005473	Fusion of middle ear ossicles	1/5	OMIM:157800
6885	MAP3K7	HP:0001840	Metatarsus adductus	-	OMIM:615777
6885	MAP3K7	HP:0000520	Proptosis	2/4	OMIM:131300
6885	MAP3K7	HP:0000520	Proptosis	7/7	OMIM:615777
6885	MAP3K7	HP:0000506	Telecanthus	3/6	OMIM:157800
6885	MAP3K7	HP:0000508	Ptosis	1/1	OMIM:157800
6885	MAP3K7	HP:0000582	Upslanted palpebral fissure	5/6	OMIM:157800
6885	MAP3K7	HP:0000592	Blue sclerae	HP:0040283	OMIM:617137
6885	MAP3K7	HP:0000592	Blue sclerae	2/7	OMIM:615777
6885	MAP3K7	HP:0000592	Blue sclerae	1/1	OMIM:157800
6885	MAP3K7	HP:0000574	Thick eyebrow	-	OMIM:617137
6885	MAP3K7	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6885	MAP3K7	HP:0012514	Lower limb pain	4/4	OMIM:131300
6886	TAL1	HP:0010982	Polygenic inheritance	-	OMIM:613065
6886	TAL1	HP:0001442	Typified by somatic mosaicism	-	OMIM:613065
6886	TAL1	HP:0006721	Acute lymphoblastic leukemia	-	OMIM:613065
6887	TAL2	HP:0010982	Polygenic inheritance	-	OMIM:613065
6887	TAL2	HP:0001442	Typified by somatic mosaicism	-	OMIM:613065
6887	TAL2	HP:0006721	Acute lymphoblastic leukemia	-	OMIM:613065
6888	TALDO1	HP:0010903	Abnormal circulating glutamine concentration	HP:0040281	ORPHA:101028
6888	TALDO1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:101028
6888	TALDO1	HP:0008665	Clitoral hypertrophy	-	OMIM:606003
6888	TALDO1	HP:0001395	Hepatic fibrosis	-	OMIM:606003
6888	TALDO1	HP:0001394	Cirrhosis	HP:0040281	ORPHA:101028
6888	TALDO1	HP:0001394	Cirrhosis	-	OMIM:606003
6888	TALDO1	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:101028
6888	TALDO1	HP:0000056	Abnormal clitoris morphology	HP:0040282	ORPHA:101028
6888	TALDO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:606003
6888	TALDO1	HP:0000154	Wide mouth	-	OMIM:606003
6888	TALDO1	HP:0002795	Abnormal respiratory system physiology	HP:0040283	ORPHA:101028
6888	TALDO1	HP:0001433	Hepatosplenomegaly	HP:0040281	ORPHA:101028
6888	TALDO1	HP:0001433	Hepatosplenomegaly	-	OMIM:606003
6888	TALDO1	HP:0001410	Decreased liver function	-	OMIM:606003
6888	TALDO1	HP:0001413	Micronodular cirrhosis	-	OMIM:606003
6888	TALDO1	HP:0002033	Poor suck	-	OMIM:606003
6888	TALDO1	HP:0002002	Deep philtrum	-	OMIM:606003
6888	TALDO1	HP:0002099	Asthma	-	OMIM:606003
6888	TALDO1	HP:0002240	Hepatomegaly	-	OMIM:606003
6888	TALDO1	HP:0200128	Biventricular hypertrophy	HP:0040283	ORPHA:101028
6888	TALDO1	HP:0001009	Telangiectasia	HP:0040282	ORPHA:101028
6888	TALDO1	HP:0001009	Telangiectasia	-	OMIM:606003
6888	TALDO1	HP:0100678	Premature skin wrinkling	HP:0040282	ORPHA:101028
6888	TALDO1	HP:0001903	Anemia	HP:0040281	ORPHA:101028
6888	TALDO1	HP:0001903	Anemia	-	OMIM:606003
6888	TALDO1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:101028
6888	TALDO1	HP:0000664	Synophrys	-	OMIM:606003
6888	TALDO1	HP:0000969	Edema	HP:0040282	ORPHA:101028
6888	TALDO1	HP:0000260	Wide anterior fontanel	-	OMIM:606003
6888	TALDO1	HP:0012202	Increased serum bile acid concentration	HP:0040281	ORPHA:101028
6888	TALDO1	HP:0001562	Oligohydramnios	-	OMIM:606003
6888	TALDO1	HP:0000233	Thin vermilion border	-	OMIM:606003
6888	TALDO1	HP:0001508	Failure to thrive	-	OMIM:606003
6888	TALDO1	HP:0001518	Small for gestational age	-	OMIM:606003
6888	TALDO1	HP:0001511	Intrauterine growth retardation	-	OMIM:606003
6888	TALDO1	HP:0000369	Low-set ears	-	OMIM:606003
6888	TALDO1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:101028
6888	TALDO1	HP:0001680	Coarctation of aorta	-	OMIM:606003
6888	TALDO1	HP:0001643	Patent ductus arteriosus	-	OMIM:606003
6888	TALDO1	HP:0000322	Short philtrum	-	OMIM:606003
6888	TALDO1	HP:0000325	Triangular face	-	OMIM:606003
6888	TALDO1	HP:0001655	Patent foramen ovale	-	OMIM:606003
6888	TALDO1	HP:0001629	Ventricular septal defect	-	OMIM:606003
6888	TALDO1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:101028
6888	TALDO1	HP:0001631	Atrial septal defect	-	OMIM:606003
6888	TALDO1	HP:0005280	Depressed nasal bridge	-	OMIM:606003
6888	TALDO1	HP:0001789	Hydrops fetalis	HP:0040282	ORPHA:101028
6888	TALDO1	HP:0000470	Short neck	-	OMIM:606003
6888	TALDO1	HP:0001744	Splenomegaly	-	OMIM:606003
6888	TALDO1	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:101028
6888	TALDO1	HP:0001873	Thrombocytopenia	-	OMIM:606003
6888	TALDO1	HP:0001876	Pancytopenia	-	OMIM:606003
6890	TAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:604571
6890	TAP1	HP:0002097	Emphysema	-	OMIM:604571
6890	TAP1	HP:0100582	Nasal polyposis	-	OMIM:604571
6890	TAP1	HP:0002110	Bronchiectasis	-	OMIM:604571
6890	TAP1	HP:0011950	Bronchiolitis	-	OMIM:604571
6890	TAP1	HP:0200042	Skin ulcer	-	OMIM:604571
6890	TAP1	HP:0001083	Ectopia lentis	-	OMIM:604571
6890	TAP1	HP:0002837	Recurrent bronchitis	-	OMIM:604571
6890	TAP1	HP:0000389	Chronic otitis media	-	OMIM:604571
6890	TAP1	HP:0011109	Chronic sinusitis	-	OMIM:604571
6891	TAP2	HP:0032230	Cytoplasmic antineutrophil antibody positivity	0/1	OMIM:620813
6891	TAP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620813
6891	TAP2	HP:0100582	Nasal polyposis	2/3	OMIM:620813
6891	TAP2	HP:0004798	Recurrent infection of the gastrointestinal tract	1/1	OMIM:620813
6891	TAP2	HP:0002110	Bronchiectasis	1/1	OMIM:620813
6891	TAP2	HP:0002257	Chronic rhinitis	2/3	OMIM:620813
6891	TAP2	HP:0002205	Recurrent respiratory infections	1/1	OMIM:620813
6891	TAP2	HP:0011463	Childhood onset	3/3	OMIM:620813
6891	TAP2	HP:0004429	Recurrent viral infections	0/1	OMIM:620813
6891	TAP2	HP:0004469	Chronic bronchitis	3/3	OMIM:620813
6891	TAP2	HP:0011109	Chronic sinusitis	3/3	OMIM:620813
6891	TAP2	HP:0031691	Severe viral infection	0/3	OMIM:620813
6892	TAPBP	HP:0032275	Recurrent shingles	1/1	OMIM:620814
6892	TAPBP	HP:0000099	Glomerulonephritis	1/1	OMIM:620814
6892	TAPBP	HP:0000007	Autosomal recessive inheritance	-	OMIM:620814
6892	TAPBP	HP:0003596	Middle age onset	1/1	OMIM:620814
6892	TAPBP	HP:0002205	Recurrent respiratory infections	0/1	OMIM:620814
6897	TARS1	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001197	Abnormality of prenatal development or birth	HP:0040283	ORPHA:33364
6897	TARS1	HP:0410219	Hypoplasia of mandible relative to maxilla	HP:0040283	ORPHA:33364
6897	TARS1	HP:0007266	Cerebral dysmyelination	HP:0040283	ORPHA:33364
6897	TARS1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001276	Hypertonia	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001260	Dysarthria	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001257	Spasticity	HP:0040283	ORPHA:33364
6897	TARS1	HP:0002562	Low-set nipples	HP:0040283	ORPHA:33364
6897	TARS1	HP:0007381	Congenital exfoliative erythroderma	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001217	Clubbing	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001373	Joint dislocation	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:33364
6897	TARS1	HP:0007502	Follicular hyperkeratosis	-	OMIM:618546
6897	TARS1	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:33364
6897	TARS1	HP:0007485	Absence of subcutaneous fat	HP:0040283	ORPHA:33364
6897	TARS1	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	-	OMIM:618546
6897	TARS1	HP:0001338	Partial agenesis of the corpus callosum	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618546
6897	TARS1	HP:0007633	Bilateral microphthalmos	HP:0040283	ORPHA:33364
6897	TARS1	HP:0002705	High, narrow palate	HP:0040283	ORPHA:33364
6897	TARS1	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:33364
6897	TARS1	HP:0007587	Numerous pigmented freckles	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000133	Gonadal dysgenesis	HP:0040283	ORPHA:33364
6897	TARS1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:33364
6897	TARS1	HP:0002719	Recurrent infections	HP:0040283	ORPHA:33364
6897	TARS1	HP:0002080	Intention tremor	HP:0040283	ORPHA:33364
6897	TARS1	HP:0002066	Gait ataxia	HP:0040283	ORPHA:33364
6897	TARS1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:33364
6897	TARS1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:33364
6897	TARS1	HP:0002197	Generalized-onset seizure	HP:0040283	ORPHA:33364
6897	TARS1	HP:0010551	Paraplegia/paraparesis	HP:0040283	ORPHA:33364
6897	TARS1	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:33364
6897	TARS1	HP:0002299	Brittle hair	-	OMIM:618546
6897	TARS1	HP:0002299	Brittle hair	HP:0040283	ORPHA:33364
6897	TARS1	HP:0002293	Alopecia of scalp	HP:0040283	ORPHA:33364
6897	TARS1	HP:0007034	Generalized hyperreflexia	HP:0040283	ORPHA:33364
6897	TARS1	HP:0008391	Dystrophic fingernails	HP:0040283	ORPHA:33364
6897	TARS1	HP:0008386	Aplasia/Hypoplasia of the nails	HP:0040283	ORPHA:33364
6897	TARS1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:33364
6897	TARS1	HP:4000007	Bronchoconstriction	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000639	Nystagmus	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000613	Photophobia	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000608	Macular degeneration	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000601	Hypotelorism	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001903	Anemia	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000656	Ectropion	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000670	Carious teeth	HP:0040283	ORPHA:33364
6897	TARS1	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:33364
6897	TARS1	HP:0003079	Defective DNA repair after ultraviolet radiation damage	HP:0040283	ORPHA:33364
6897	TARS1	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:33364
6897	TARS1	HP:0003139	Panhypogammaglobulinemia	HP:0040283	ORPHA:33364
6897	TARS1	HP:0045055	Tiger tail banding	2/2	OMIM:618546
6897	TARS1	HP:0045055	Tiger tail banding	HP:0040283	ORPHA:33364
6897	TARS1	HP:0100275	Diffuse cerebellar atrophy	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000992	Cutaneous photosensitivity	0/1	OMIM:618546
6897	TARS1	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000958	Dry skin	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000938	Osteopenia	HP:0040283	ORPHA:33364
6897	TARS1	HP:0008064	Ichthyosis	1/2	OMIM:618546
6897	TARS1	HP:0008064	Ichthyosis	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000286	Epicanthus	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000280	Coarse facial features	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000278	Retrognathia	HP:0040283	ORPHA:33364
6897	TARS1	HP:0025548	Increased mean corpuscular hemoglobin concentration	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001598	Concave nail	HP:0040283	ORPHA:33364
6897	TARS1	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000252	Microcephaly	HP:0040283	ORPHA:33364
6897	TARS1	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:33364
6897	TARS1	HP:0006538	Recurrent bronchopulmonary infections	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001618	Dysphonia	HP:0040283	ORPHA:33364
6897	TARS1	HP:0002942	Thoracic kyphosis	HP:0040283	ORPHA:33364
6897	TARS1	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000320	Bird-like facies	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000483	Astigmatism	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000486	Strabismus	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000482	Microcornea	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000411	Protruding ear	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000519	Developmental cataract	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001809	Split nail	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001808	Fragile nails	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001807	Ridged nail	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000565	Esotropia	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000546	Retinal degeneration	HP:0040283	ORPHA:33364
6897	TARS1	HP:0000545	Myopia	HP:0040283	ORPHA:33364
6897	TARS1	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33364
6898	TAT	HP:0001250	Seizure	HP:0040283	ORPHA:28378
6898	TAT	HP:0001251	Ataxia	HP:0040283	ORPHA:28378
6898	TAT	HP:0001249	Intellectual disability	HP:0040281	ORPHA:28378
6898	TAT	HP:0001249	Intellectual disability	-	OMIM:276600
6898	TAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:276600
6898	TAT	HP:0001337	Tremor	HP:0040283	ORPHA:28378
6898	TAT	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:28378
6898	TAT	HP:6000479	Elevated urine N-acetyltyrosine level	-	OMIM:276600
6898	TAT	HP:0000639	Nystagmus	HP:0040282	ORPHA:28378
6898	TAT	HP:0000613	Photophobia	HP:0040282	ORPHA:28378
6898	TAT	HP:0004337	Abnormality of amino acid metabolism	HP:0040282	ORPHA:28378
6898	TAT	HP:0000708	Atypical behavior	HP:0040282	ORPHA:28378
6898	TAT	HP:0003161	4-Hydroxyphenylpyruvic aciduria	-	OMIM:276600
6898	TAT	HP:0003231	Hypertyrosinemia	-	OMIM:276600
6898	TAT	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:28378
6898	TAT	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:28378
6898	TAT	HP:0000951	Abnormality of the skin	-	OMIM:276600
6898	TAT	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:28378
6898	TAT	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:28378
6898	TAT	HP:0000272	Malar flattening	HP:0040283	ORPHA:28378
6898	TAT	HP:0000252	Microcephaly	HP:0040283	ORPHA:28378
6898	TAT	HP:0001510	Growth delay	-	OMIM:276600
6898	TAT	HP:0007812	Herpetiform corneal ulceration	-	OMIM:276600
6898	TAT	HP:0007957	Corneal opacity	HP:0040281	ORPHA:28378
6898	TAT	HP:0000572	Visual loss	HP:0040283	ORPHA:28378
6899	TBX1	HP:0001155	Abnormality of the hand	-	OMIM:192430
6899	TBX1	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3303
6899	TBX1	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:567
6899	TBX1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:567
6899	TBX1	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:567
6899	TBX1	HP:0002435	Meningocele	HP:0040282	ORPHA:567
6899	TBX1	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:567
6899	TBX1	HP:0007302	Bipolar affective disorder	-	OMIM:188400
6899	TBX1	HP:0009908	Anterior creases of earlobe	HP:0040283	ORPHA:1727
6899	TBX1	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:3303
6899	TBX1	HP:0002414	Spina bifida	HP:0040283	ORPHA:567
6899	TBX1	HP:0001269	Hemiparesis	5/78	OMIM:188400
6899	TBX1	HP:0001281	Tetany	-	OMIM:188400
6899	TBX1	HP:0001281	Tetany	HP:0040282	ORPHA:567
6899	TBX1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:567
6899	TBX1	HP:0001250	Seizure	HP:0040283	ORPHA:567
6899	TBX1	HP:0001250	Seizure	HP:0040283	ORPHA:1727
6899	TBX1	HP:0001250	Seizure	31/78	OMIM:188400
6899	TBX1	HP:0001252	Hypotonia	HP:0040281	ORPHA:567
6899	TBX1	HP:0001252	Hypotonia	HP:0040282	ORPHA:1727
6899	TBX1	HP:0001252	Hypotonia	29/38	OMIM:192430
6899	TBX1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:567
6899	TBX1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1727
6899	TBX1	HP:0001249	Intellectual disability	31/38	OMIM:192430
6899	TBX1	HP:0001249	Intellectual disability	72/78	OMIM:188400
6899	TBX1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:567
6899	TBX1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1727
6899	TBX1	HP:0001263	Global developmental delay	-	OMIM:188400
6899	TBX1	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:567
6899	TBX1	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:1727
6899	TBX1	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:1727
6899	TBX1	HP:0031014	Arteria lusoria	HP:0040283	ORPHA:3384
6899	TBX1	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:567
6899	TBX1	HP:0000083	Renal insufficiency	8/78	OMIM:188400
6899	TBX1	HP:0001397	Hepatic steatosis	5/78	OMIM:188400
6899	TBX1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:567
6899	TBX1	HP:0001369	Arthritis	HP:0040283	ORPHA:567
6899	TBX1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:567
6899	TBX1	HP:0012020	Right aortic arch	HP:0040282	ORPHA:3384
6899	TBX1	HP:0000047	Hypospadias	HP:0040283	ORPHA:567
6899	TBX1	HP:0000023	Inguinal hernia	3/38	OMIM:192430
6899	TBX1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:567
6899	TBX1	HP:0000023	Inguinal hernia	-	OMIM:188400
6899	TBX1	HP:0000034	Hydrocele testis	5/36	OMIM:188400
6899	TBX1	HP:0025312	Esophoria	-	OMIM:188400
6899	TBX1	HP:0002691	Platybasia	HP:0040281	ORPHA:567
6899	TBX1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:567
6899	TBX1	HP:0000028	Cryptorchidism	3/38	OMIM:192430
6899	TBX1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3303
6899	TBX1	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:567
6899	TBX1	HP:0001328	Specific learning disability	-	OMIM:188400
6899	TBX1	HP:0001328	Specific learning disability	-	OMIM:192430
6899	TBX1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:567
6899	TBX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:217095
6899	TBX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
6899	TBX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:192430
6899	TBX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:188400
6899	TBX1	HP:0002650	Scoliosis	HP:0040282	ORPHA:567
6899	TBX1	HP:0002650	Scoliosis	HP:0040283	ORPHA:1727
6899	TBX1	HP:0002650	Scoliosis	37/78	OMIM:188400
6899	TBX1	HP:0002619	Varicose veins	HP:0040283	ORPHA:567
6899	TBX1	HP:0001300	Parkinsonism	HP:0040283	ORPHA:567
6899	TBX1	HP:0002627	Right aortic arch with mirror image branching	-	OMIM:188400
6899	TBX1	HP:0002627	Right aortic arch with mirror image branching	-	OMIM:192430
6899	TBX1	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:567
6899	TBX1	HP:0000194	Open mouth	-	OMIM:192430
6899	TBX1	HP:0000193	Bifid uvula	-	OMIM:188400
6899	TBX1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:567
6899	TBX1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:567
6899	TBX1	HP:0000176	Submucous cleft hard palate	15/38	OMIM:192430
6899	TBX1	HP:0000175	Cleft palate	HP:0040282	ORPHA:1727
6899	TBX1	HP:0000175	Cleft palate	7/38	OMIM:192430
6899	TBX1	HP:0000175	Cleft palate	HP:0040281	ORPHA:567
6899	TBX1	HP:0000175	Cleft palate	-	OMIM:188400
6899	TBX1	HP:0000138	Ovarian cyst	7/42	OMIM:188400
6899	TBX1	HP:0002705	High, narrow palate	-	OMIM:188400
6899	TBX1	HP:0000122	Unilateral renal agenesis	5/78	OMIM:188400
6899	TBX1	HP:0000113	Polycystic kidney dysplasia	HP:0040283	ORPHA:567
6899	TBX1	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:567
6899	TBX1	HP:0002789	Tachypnea	HP:0040282	ORPHA:3384
6899	TBX1	HP:0000126	Hydronephrosis	16/88	OMIM:188400
6899	TBX1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1727
6899	TBX1	HP:0000110	Renal dysplasia	-	OMIM:188400
6899	TBX1	HP:0002719	Recurrent infections	-	OMIM:188400
6899	TBX1	HP:0002719	Recurrent infections	-	OMIM:192430
6899	TBX1	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:567
6899	TBX1	HP:0002023	Anal atresia	HP:0040283	ORPHA:567
6899	TBX1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:567
6899	TBX1	HP:0002020	Gastroesophageal reflux	6/78	OMIM:188400
6899	TBX1	HP:0002019	Constipation	HP:0040282	ORPHA:567
6899	TBX1	HP:0003326	Myalgia	HP:0040282	ORPHA:567
6899	TBX1	HP:0011800	Midface retrusion	HP:0040282	ORPHA:1727
6899	TBX1	HP:0100541	Femoral hernia	-	OMIM:188400
6899	TBX1	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:3384
6899	TBX1	HP:0002099	Asthma	HP:0040283	ORPHA:567
6899	TBX1	HP:0002099	Asthma	10/78	OMIM:188400
6899	TBX1	HP:0100598	Pulmonary edema	HP:0040283	ORPHA:3384
6899	TBX1	HP:0002139	Arrhinencephaly	HP:0040283	ORPHA:567
6899	TBX1	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:3384
6899	TBX1	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:567
6899	TBX1	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:1727
6899	TBX1	HP:0008211	Parathyroid agenesis	-	OMIM:188400
6899	TBX1	HP:0010515	Aplasia/Hypoplasia of the thymus	HP:0040283	ORPHA:1727
6899	TBX1	HP:0011840	Abnormality of T cell physiology	-	OMIM:188400
6899	TBX1	HP:0011840	Abnormality of T cell physiology	2/38	OMIM:192430
6899	TBX1	HP:0011840	Abnormality of T cell physiology	HP:0040282	ORPHA:567
6899	TBX1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:567
6899	TBX1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:567
6899	TBX1	HP:0100765	Abnormality of the tonsils	HP:0040282	ORPHA:567
6899	TBX1	HP:0100735	Hypertensive crisis	HP:0040283	ORPHA:567
6899	TBX1	HP:0100750	Atelectasis	HP:0040283	ORPHA:567
6899	TBX1	HP:0100750	Atelectasis	16/78	OMIM:188400
6899	TBX1	HP:0100753	Schizophrenia	HP:0040283	ORPHA:567
6899	TBX1	HP:0100753	Schizophrenia	7/31	OMIM:188400
6899	TBX1	HP:0011999	Paranoia	-	OMIM:192430
6899	TBX1	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:188400
6899	TBX1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:1727
6899	TBX1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:567
6899	TBX1	HP:0020046	Accommodative esotropia	-	OMIM:188400
6899	TBX1	HP:0001051	Seborrheic dermatitis	HP:0040282	ORPHA:567
6899	TBX1	HP:0001051	Seborrheic dermatitis	27/78	OMIM:188400
6899	TBX1	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:567
6899	TBX1	HP:0002381	Aphasia	HP:0040281	ORPHA:567
6899	TBX1	HP:0001061	Acne	HP:0040282	ORPHA:567
6899	TBX1	HP:0001061	Acne	18/78	OMIM:188400
6899	TBX1	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:1727
6899	TBX1	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:567
6899	TBX1	HP:0001081	Cholelithiasis	15/78	OMIM:188400
6899	TBX1	HP:0010769	Pilonidal sinus	5/78	OMIM:188400
6899	TBX1	HP:0008419	Intervertebral disk degeneration	6/78	OMIM:188400
6899	TBX1	HP:0004971	Pulmonary artery hypoplasia	HP:0040284	ORPHA:3384
6899	TBX1	HP:0002307	Drooling	5/78	OMIM:188400
6899	TBX1	HP:0004935	Pulmonary artery atresia	HP:0040283	ORPHA:3384
6899	TBX1	HP:0004935	Pulmonary artery atresia	2/16	OMIM:192430
6899	TBX1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
6899	TBX1	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:3303
6899	TBX1	HP:0031817	Decreased circulating parathyroid hormone level	-	OMIM:188400
6899	TBX1	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:567
6899	TBX1	HP:0000646	Amblyopia	-	OMIM:188400
6899	TBX1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:567
6899	TBX1	HP:0000647	Sclerocornea	-	OMIM:188400
6899	TBX1	HP:0000627	Posterior embryotoxon	-	OMIM:188400
6899	TBX1	HP:0000627	Posterior embryotoxon	-	OMIM:192430
6899	TBX1	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:567
6899	TBX1	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:217095
6899	TBX1	HP:0000600	Abnormality of the pharynx	HP:0040282	ORPHA:1727
6899	TBX1	HP:0000600	Abnormality of the pharynx	HP:0040281	ORPHA:567
6899	TBX1	HP:0001903	Anemia	9/78	OMIM:188400
6899	TBX1	HP:0010055	Broad hallux	-	OMIM:217095
6899	TBX1	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:567
6899	TBX1	HP:0011324	Multiple suture craniosynostosis	HP:0040283	ORPHA:567
6899	TBX1	HP:0000670	Carious teeth	HP:0040282	ORPHA:567
6899	TBX1	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:3384
6899	TBX1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:567
6899	TBX1	HP:0004322	Short stature	HP:0040282	ORPHA:567
6899	TBX1	HP:0004322	Short stature	24/38	OMIM:192430
6899	TBX1	HP:0004322	Short stature	16/78	OMIM:188400
6899	TBX1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:567
6899	TBX1	HP:0004383	Hypoplastic left heart	HP:0040283	ORPHA:1727
6899	TBX1	HP:0012745	Short palpebral fissure	-	OMIM:188400
6899	TBX1	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:567
6899	TBX1	HP:0000765	Abnormal thorax morphology	HP:0040283	ORPHA:567
6899	TBX1	HP:0000739	Anxiety	HP:0040283	ORPHA:1727
6899	TBX1	HP:0000739	Anxiety	HP:0040282	ORPHA:567
6899	TBX1	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:1727
6899	TBX1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:1727
6899	TBX1	HP:0000750	Delayed speech and language development	-	OMIM:188400
6899	TBX1	HP:0000716	Depression	HP:0040283	ORPHA:567
6899	TBX1	HP:0000718	Aggressive behavior	-	OMIM:192430
6899	TBX1	HP:0000717	Autism	HP:0040283	ORPHA:567
6899	TBX1	HP:0000717	Autism	HP:0040283	ORPHA:1727
6899	TBX1	HP:0000712	Emotional lability	-	OMIM:192430
6899	TBX1	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:1727
6899	TBX1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:567
6899	TBX1	HP:0011496	Corneal neovascularization	HP:0040282	ORPHA:567
6899	TBX1	HP:0000778	Hypoplasia of the thymus	HP:0040283	ORPHA:3384
6899	TBX1	HP:0000778	Hypoplasia of the thymus	HP:0040281	ORPHA:567
6899	TBX1	HP:0000778	Hypoplasia of the thymus	8/78	OMIM:188400
6899	TBX1	HP:0000777	Abnormal thymus morphology	-	OMIM:188400
6899	TBX1	HP:0004415	Pulmonary artery stenosis	HP:0040283	ORPHA:3384
6899	TBX1	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:567
6899	TBX1	HP:0004467	Preauricular pit	HP:0040282	ORPHA:3303
6899	TBX1	HP:0004467	Preauricular pit	-	OMIM:187500
6899	TBX1	HP:0000860	Parathyroid hypoplasia	-	OMIM:188400
6899	TBX1	HP:0012841	Retinal vascular tortuosity	-	OMIM:192430
6899	TBX1	HP:0000836	Hyperthyroidism	HP:0040283	ORPHA:567
6899	TBX1	HP:0000849	Adrenocortical abnormality	HP:0040283	ORPHA:3384
6899	TBX1	HP:0000829	Hypoparathyroidism	HP:0040282	ORPHA:567
6899	TBX1	HP:0000829	Hypoparathyroidism	3/38	OMIM:192430
6899	TBX1	HP:0000821	Hypothyroidism	-	OMIM:188400
6899	TBX1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:567
6899	TBX1	HP:0011590	Double aortic arch	1/16	OMIM:192430
6899	TBX1	HP:0045060	Aplasia/hypoplasia involving bones of the extremities	HP:0040283	ORPHA:3384
6899	TBX1	HP:0011662	Tricuspid atresia	HP:0040283	ORPHA:567
6899	TBX1	HP:0011660	Anomalous origin of one pulmonary artery from ascending aorta	HP:0040282	ORPHA:3384
6899	TBX1	HP:0100259	Postaxial polydactyly	-	OMIM:217095
6899	TBX1	HP:0011640	Single coronary artery origin	HP:0040283	ORPHA:3384
6899	TBX1	HP:0000979	Purpura	HP:0040283	ORPHA:567
6899	TBX1	HP:0011611	Interrupted aortic arch	-	OMIM:188400
6899	TBX1	HP:0011611	Interrupted aortic arch	HP:0040283	ORPHA:3384
6899	TBX1	HP:0011611	Interrupted aortic arch	2/16	OMIM:192430
6899	TBX1	HP:0011611	Interrupted aortic arch	HP:0040283	ORPHA:1727
6899	TBX1	HP:0000961	Cyanosis	HP:0040281	ORPHA:3384
6899	TBX1	HP:0045025	Narrow palpebral fissure	-	OMIM:192430
6899	TBX1	HP:0000286	Epicanthus	HP:0040281	ORPHA:567
6899	TBX1	HP:0000286	Epicanthus	HP:0040282	ORPHA:1727
6899	TBX1	HP:0000278	Retrognathia	-	OMIM:192430
6899	TBX1	HP:0025575	Abnormal superior vena cava morphology	HP:0040283	ORPHA:3384
6899	TBX1	HP:0000262	Turricephaly	HP:0040283	ORPHA:567
6899	TBX1	HP:0000275	Narrow face	HP:0040282	ORPHA:1727
6899	TBX1	HP:0000276	Long face	HP:0040282	ORPHA:567
6899	TBX1	HP:0000272	Malar flattening	HP:0040282	ORPHA:567
6899	TBX1	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:3303
6899	TBX1	HP:0005105	Abnormal nasal morphology	HP:0040281	ORPHA:3303
6899	TBX1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:567
6899	TBX1	HP:0000252	Microcephaly	HP:0040283	ORPHA:567
6899	TBX1	HP:0000252	Microcephaly	HP:0040283	ORPHA:1727
6899	TBX1	HP:0000252	Microcephaly	-	OMIM:192430
6899	TBX1	HP:0000252	Microcephaly	5/78	OMIM:188400
6899	TBX1	HP:0000220	Velopharyngeal insufficiency	38/38	OMIM:192430
6899	TBX1	HP:0000218	High palate	-	OMIM:188400
6899	TBX1	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:567
6899	TBX1	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:3303
6899	TBX1	HP:0001537	Umbilical hernia	-	OMIM:188400
6899	TBX1	HP:0001537	Umbilical hernia	2/38	OMIM:192430
6899	TBX1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:567
6899	TBX1	HP:0000201	Pierre-Robin sequence	-	OMIM:192430
6899	TBX1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:567
6899	TBX1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:567
6899	TBX1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:3384
6899	TBX1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3303
6899	TBX1	HP:0001510	Growth delay	HP:0040283	ORPHA:1727
6899	TBX1	HP:0001513	Obesity	27/78	OMIM:188400
6899	TBX1	HP:0001513	Obesity	HP:0040283	ORPHA:567
6899	TBX1	HP:0006510	Chronic pulmonary obstruction	HP:0040283	ORPHA:567
6899	TBX1	HP:0006510	Chronic pulmonary obstruction	6/78	OMIM:188400
6899	TBX1	HP:0000385	Small earlobe	HP:0040282	ORPHA:567
6899	TBX1	HP:0000396	Overfolded helix	HP:0040282	ORPHA:567
6899	TBX1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:567
6899	TBX1	HP:0006549	Unilateral primary pulmonary dysgenesis	-	OMIM:192430
6899	TBX1	HP:0006532	Recurrent pneumonia	30/78	OMIM:188400
6899	TBX1	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:567
6899	TBX1	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:567
6899	TBX1	HP:0001611	Hypernasal speech	-	OMIM:188400
6899	TBX1	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:1727
6899	TBX1	HP:0001611	Hypernasal speech	-	OMIM:192430
6899	TBX1	HP:0002901	Hypocalcemia	HP:0040282	ORPHA:567
6899	TBX1	HP:0002901	Hypocalcemia	-	OMIM:188400
6899	TBX1	HP:0002901	Hypocalcemia	5/38	OMIM:192430
6899	TBX1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:567
6899	TBX1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1727
6899	TBX1	HP:0000370	Abnormality of the middle ear	-	OMIM:188400
6899	TBX1	HP:0000369	Low-set ears	HP:0040281	ORPHA:567
6899	TBX1	HP:0000369	Low-set ears	-	OMIM:188400
6899	TBX1	HP:0001674	Complete atrioventricular canal defect	-	OMIM:217095
6899	TBX1	HP:0000343	Long philtrum	HP:0040282	ORPHA:567
6899	TBX1	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:3384
6899	TBX1	HP:0001669	Transposition of the great arteries	HP:0040283	ORPHA:1727
6899	TBX1	HP:0001669	Transposition of the great arteries	-	OMIM:217095
6899	TBX1	HP:0000337	Broad forehead	-	OMIM:187500
6899	TBX1	HP:0000337	Broad forehead	HP:0040281	ORPHA:3303
6899	TBX1	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:567
6899	TBX1	HP:0002999	Patellar dislocation	9/78	OMIM:188400
6899	TBX1	HP:0001667	Right ventricular hypertrophy	HP:0040282	ORPHA:3384
6899	TBX1	HP:0001680	Coarctation of aorta	-	OMIM:217095
6899	TBX1	HP:0000348	High forehead	HP:0040282	ORPHA:1727
6899	TBX1	HP:0000347	Micrognathia	HP:0040283	ORPHA:567
6899	TBX1	HP:0000347	Micrognathia	HP:0040283	ORPHA:1727
6899	TBX1	HP:0000347	Micrognathia	-	OMIM:188400
6899	TBX1	HP:0012303	Abnormal aortic arch morphology	HP:0040281	ORPHA:567
6899	TBX1	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:1727
6899	TBX1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:567
6899	TBX1	HP:0000316	Hypertelorism	HP:0040283	OMIM:217095
6899	TBX1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:1727
6899	TBX1	HP:0000316	Hypertelorism	-	OMIM:188400
6899	TBX1	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:567
6899	TBX1	HP:0001649	Tachycardia	HP:0040281	ORPHA:3384
6899	TBX1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:567
6899	TBX1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:3384
6899	TBX1	HP:0001643	Patent ductus arteriosus	-	OMIM:188400
6899	TBX1	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:3384
6899	TBX1	HP:0001660	Truncus arteriosus	HP:0040280	ORPHA:3384
6899	TBX1	HP:0001660	Truncus arteriosus	HP:0040281	ORPHA:567
6899	TBX1	HP:0001660	Truncus arteriosus	-	OMIM:188400
6899	TBX1	HP:0001660	Truncus arteriosus	-	OMIM:217095
6899	TBX1	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:3384
6899	TBX1	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:3384
6899	TBX1	HP:0000322	Short philtrum	-	OMIM:188400
6899	TBX1	HP:0000322	Short philtrum	HP:0040283	ORPHA:567
6899	TBX1	HP:0002960	Autoimmunity	HP:0040283	ORPHA:567
6899	TBX1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:1727
6899	TBX1	HP:0001629	Ventricular septal defect	-	OMIM:192430
6899	TBX1	HP:0001629	Ventricular septal defect	HP:0040281	ORPHA:567
6899	TBX1	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:3384
6899	TBX1	HP:0001629	Ventricular septal defect	-	OMIM:188400
6899	TBX1	HP:0001627	Abnormal heart morphology	HP:0040281	ORPHA:3384
6899	TBX1	HP:0001641	Abnormal pulmonary valve morphology	HP:0040281	ORPHA:567
6899	TBX1	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:3384
6899	TBX1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:3384
6899	TBX1	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:3303
6899	TBX1	HP:0001636	Tetralogy of Fallot	HP:0040281	ORPHA:567
6899	TBX1	HP:0001636	Tetralogy of Fallot	-	OMIM:188400
6899	TBX1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1727
6899	TBX1	HP:0001636	Tetralogy of Fallot	3/16	OMIM:192430
6899	TBX1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
6899	TBX1	HP:0001631	Atrial septal defect	HP:0040281	ORPHA:567
6899	TBX1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:3384
6899	TBX1	HP:0005301	Persistent left superior vena cava	HP:0040283	ORPHA:3384
6899	TBX1	HP:0031635	Anomalous origin of the left common carotid artery from the brachiocephalic artery	HP:0040284	ORPHA:3384
6899	TBX1	HP:0031653	Abnormal heart valve physiology	HP:0040281	ORPHA:3384
6899	TBX1	HP:0000403	Recurrent otitis media	27/78	OMIM:188400
6899	TBX1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:567
6899	TBX1	HP:0001719	Double outlet right ventricle	-	OMIM:217095
6899	TBX1	HP:0000486	Strabismus	HP:0040283	ORPHA:567
6899	TBX1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:1727
6899	TBX1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:567
6899	TBX1	HP:0000492	Abnormal eyelid morphology	HP:0040282	ORPHA:567
6899	TBX1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:1727
6899	TBX1	HP:0000470	Short neck	HP:0040282	ORPHA:567
6899	TBX1	HP:0011108	Recurrent sinusitis	9/78	OMIM:188400
6899	TBX1	HP:0000453	Choanal atresia	HP:0040283	ORPHA:567
6899	TBX1	HP:0000445	Wide nose	HP:0040283	ORPHA:1727
6899	TBX1	HP:0000414	Bulbous nose	-	OMIM:192430
6899	TBX1	HP:0000414	Bulbous nose	HP:0040281	ORPHA:567
6899	TBX1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:567
6899	TBX1	HP:0001744	Splenomegaly	8/78	OMIM:188400
6899	TBX1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:567
6899	TBX1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:567
6899	TBX1	HP:0000430	Underdeveloped nasal alae	-	OMIM:192430
6899	TBX1	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:567
6899	TBX1	HP:0006704	Abnormal coronary artery morphology	HP:0040283	ORPHA:3384
6899	TBX1	HP:0000518	Cataract	HP:0040283	ORPHA:567
6899	TBX1	HP:0000520	Proptosis	-	OMIM:187500
6899	TBX1	HP:0000520	Proptosis	HP:0040282	ORPHA:3303
6899	TBX1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:567
6899	TBX1	HP:0000506	Telecanthus	HP:0040281	ORPHA:567
6899	TBX1	HP:0000508	Ptosis	HP:0040282	ORPHA:567
6899	TBX1	HP:0000508	Ptosis	HP:0040283	ORPHA:1727
6899	TBX1	HP:0000501	Glaucoma	HP:0040283	ORPHA:567
6899	TBX1	HP:0000598	Abnormality of the ear	-	OMIM:192430
6899	TBX1	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:567
6899	TBX1	HP:0000581	Blepharophimosis	-	OMIM:188400
6899	TBX1	HP:0000581	Blepharophimosis	-	OMIM:192430
6899	TBX1	HP:0000577	Exotropia	-	OMIM:188400
6899	TBX1	HP:0000568	Microphthalmia	HP:0040283	ORPHA:567
6899	TBX1	HP:0000565	Esotropia	-	OMIM:188400
6899	TBX1	HP:0001872	Abnormality of thrombocytes	HP:0040283	ORPHA:567
6899	TBX1	HP:0001883	Talipes	4/38	OMIM:192430
6899	TBX1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:567
6899	TBX1	HP:0001873	Thrombocytopenia	22/78	OMIM:188400
6900	CNTN2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:86814
6900	CNTN2	HP:0033715	Hippocampal sclerosis	1/5	OMIM:615400
6900	CNTN2	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:86814
6900	CNTN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615400
6900	CNTN2	HP:0001337	Tremor	5/5	OMIM:615400
6900	CNTN2	HP:0001336	Myoclonus	5/5	OMIM:615400
6900	CNTN2	HP:0001336	Myoclonus	HP:0040281	ORPHA:86814
6900	CNTN2	HP:0002069	Bilateral tonic-clonic seizure	5/5	OMIM:615400
6900	CNTN2	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:86814
6900	CNTN2	HP:0002197	Generalized-onset seizure	HP:0040282	ORPHA:86814
6900	CNTN2	HP:0002384	Focal impaired awareness seizure	4/5	OMIM:615400
6900	CNTN2	HP:0002378	Hand tremor	HP:0040281	ORPHA:86814
6900	CNTN2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:86814
6900	CNTN2	HP:0002315	Headache	HP:0040283	ORPHA:86814
6900	CNTN2	HP:0003621	Juvenile onset	5/5	OMIM:615400
6900	CNTN2	HP:0011182	Interictal epileptiform activity	3/5	OMIM:615400
6900	CNTN2	HP:0011165	Focal sensory seizure with visual features	3/5	OMIM:615400
6901	TAFAZZIN	HP:6000517	Elevated monolysocardiolipin/cardiolipin ratio	-	OMIM:302060
6901	TAFAZZIN	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
6901	TAFAZZIN	HP:0003756	Skeletal myopathy	2/5	OMIM:302060
6901	TAFAZZIN	HP:0001270	Motor delay	1/1	OMIM:302060
6901	TAFAZZIN	HP:0001288	Gait disturbance	-	OMIM:302060
6901	TAFAZZIN	HP:0001263	Global developmental delay	1/5	OMIM:302060
6901	TAFAZZIN	HP:0033755	Increased left ventricular end-diastolic volume	1/1	OMIM:302060
6901	TAFAZZIN	HP:0001419	X-linked recessive inheritance	-	OMIM:302060
6901	TAFAZZIN	HP:0003391	Gowers sign	1/5	OMIM:302060
6901	TAFAZZIN	HP:0002058	Myopathic facies	1/5	OMIM:302060
6901	TAFAZZIN	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
6901	TAFAZZIN	HP:0040289	Cyclically decreased total neutrophil count	1/1	OMIM:302060
6901	TAFAZZIN	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
6901	TAFAZZIN	HP:0003593	Infantile onset	1/1	OMIM:302060
6901	TAFAZZIN	HP:0003546	Exercise intolerance	1/1	OMIM:302060
6901	TAFAZZIN	HP:0003535	3-Methylglutaconic aciduria	4/4	OMIM:302060
6901	TAFAZZIN	HP:0002286	Fair hair	1/1	OMIM:302060
6901	TAFAZZIN	HP:0008322	Abnormal mitochondrial morphology	HP:0040282	ORPHA:111
6901	TAFAZZIN	HP:0008322	Abnormal mitochondrial morphology	-	OMIM:302060
6901	TAFAZZIN	HP:0004840	Hypochromic microcytic anemia	1/1	OMIM:302060
6901	TAFAZZIN	HP:0004913	Intermittent lactic acidemia	-	OMIM:302060
6901	TAFAZZIN	HP:0001913	Decreased total granulocyte count	-	OMIM:302060
6901	TAFAZZIN	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
6901	TAFAZZIN	HP:0003198	Myopathy	HP:0040283	ORPHA:154
6901	TAFAZZIN	HP:0000969	Edema	HP:0040282	ORPHA:154
6901	TAFAZZIN	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
6901	TAFAZZIN	HP:0011675	Arrhythmia	-	OMIM:302060
6901	TAFAZZIN	HP:0000293	Full cheeks	1/1	OMIM:302060
6901	TAFAZZIN	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
6901	TAFAZZIN	HP:0001508	Failure to thrive	5/5	OMIM:302060
6901	TAFAZZIN	HP:0002837	Recurrent bronchitis	1/1	OMIM:302060
6901	TAFAZZIN	HP:0001510	Growth delay	1/1	OMIM:302060
6901	TAFAZZIN	HP:0012378	Fatigue	HP:0040282	ORPHA:154
6901	TAFAZZIN	HP:0012378	Fatigue	1/1	OMIM:302060
6901	TAFAZZIN	HP:0005180	Tricuspid regurgitation	1/1	OMIM:302060
6901	TAFAZZIN	HP:0000337	Broad forehead	1/1	OMIM:302060
6901	TAFAZZIN	HP:0000348	High forehead	1/1	OMIM:302060
6901	TAFAZZIN	HP:0000311	Round face	1/1	OMIM:302060
6901	TAFAZZIN	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
6901	TAFAZZIN	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:111
6901	TAFAZZIN	HP:0001644	Dilated cardiomyopathy	5/5	OMIM:302060
6901	TAFAZZIN	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:302060
6901	TAFAZZIN	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
6901	TAFAZZIN	HP:0001635	Congestive heart failure	-	OMIM:302060
6901	TAFAZZIN	HP:0000307	Pointed chin	1/1	OMIM:302060
6901	TAFAZZIN	HP:0000303	Mandibular prognathia	-	OMIM:302060
6901	TAFAZZIN	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
6901	TAFAZZIN	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
6901	TAFAZZIN	HP:0000400	Macrotia	1/1	OMIM:302060
6901	TAFAZZIN	HP:0001706	Endocardial fibroelastosis	HP:0040282	ORPHA:111
6901	TAFAZZIN	HP:0001706	Endocardial fibroelastosis	-	OMIM:302060
6901	TAFAZZIN	HP:0000490	Deeply set eye	1/1	OMIM:302060
6901	TAFAZZIN	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:302060
6901	TAFAZZIN	HP:0005437	Recurrent infections in infancy and early childhood	-	OMIM:302060
6901	TAFAZZIN	HP:0001874	Abnormality of neutrophils	HP:0040282	ORPHA:111
6901	TAFAZZIN	HP:0001875	Decreased total neutrophil count	5/5	OMIM:302060
6904	TBCD	HP:0002465	Poor speech	HP:0040282	ORPHA:496641
6904	TBCD	HP:0002445	Tetraplegia	HP:0040282	ORPHA:496641
6904	TBCD	HP:0001298	Encephalopathy	-	OMIM:617193
6904	TBCD	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:496641
6904	TBCD	HP:0001272	Cerebellar atrophy	1/7	OMIM:617193
6904	TBCD	HP:0001284	Areflexia	HP:0040283	ORPHA:496641
6904	TBCD	HP:0001250	Seizure	6/7	OMIM:617193
6904	TBCD	HP:0001252	Hypotonia	6/8	OMIM:617193
6904	TBCD	HP:0001251	Ataxia	HP:0040283	ORPHA:496641
6904	TBCD	HP:0001251	Ataxia	2/6	OMIM:617193
6904	TBCD	HP:0001249	Intellectual disability	7/7	OMIM:617193
6904	TBCD	HP:0001263	Global developmental delay	HP:0040282	ORPHA:496641
6904	TBCD	HP:0001263	Global developmental delay	7/7	OMIM:617193
6904	TBCD	HP:0001257	Spasticity	HP:0040281	ORPHA:496641
6904	TBCD	HP:0007366	Atrophy/Degeneration affecting the brainstem	1/7	OMIM:617193
6904	TBCD	HP:0002540	Inability to walk	4/7	OMIM:617193
6904	TBCD	HP:0002529	Neuronal loss in central nervous system	-	OMIM:617193
6904	TBCD	HP:0002524	Cataplexy	HP:0040284	ORPHA:496641
6904	TBCD	HP:0002524	Cataplexy	1/8	OMIM:617193
6904	TBCD	HP:0002506	Diffuse cerebral atrophy	-	OMIM:617193
6904	TBCD	HP:0001374	Congenital hip dislocation	HP:0040284	ORPHA:496641
6904	TBCD	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:496641
6904	TBCD	HP:0000020	Urinary incontinence	2/7	OMIM:617193
6904	TBCD	HP:0001348	Brisk reflexes	6/7	OMIM:617193
6904	TBCD	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:496641
6904	TBCD	HP:0001357	Plagiocephaly	1/7	OMIM:617193
6904	TBCD	HP:0001332	Dystonia	HP:0040284	ORPHA:496641
6904	TBCD	HP:0001324	Muscle weakness	HP:0040281	ORPHA:496641
6904	TBCD	HP:0001324	Muscle weakness	7/7	OMIM:617193
6904	TBCD	HP:0000011	Neurogenic bladder	HP:0040284	ORPHA:496641
6904	TBCD	HP:0001344	Absent speech	HP:0040282	ORPHA:496641
6904	TBCD	HP:0001344	Absent speech	2/7	OMIM:617193
6904	TBCD	HP:0000007	Autosomal recessive inheritance	-	OMIM:617193
6904	TBCD	HP:0001308	Tongue fasciculations	2/8	OMIM:617193
6904	TBCD	HP:0002650	Scoliosis	HP:0040283	ORPHA:496641
6904	TBCD	HP:0002650	Scoliosis	6/7	OMIM:617193
6904	TBCD	HP:0002607	Bowel incontinence	HP:0040284	ORPHA:496641
6904	TBCD	HP:0002607	Bowel incontinence	1/8	OMIM:617193
6904	TBCD	HP:0008947	Floppy infant	HP:0040282	ORPHA:496641
6904	TBCD	HP:0002019	Constipation	3/7	OMIM:617193
6904	TBCD	HP:0002015	Dysphagia	HP:0040283	ORPHA:496641
6904	TBCD	HP:0002007	Frontal bossing	1/7	OMIM:617193
6904	TBCD	HP:0002093	Respiratory insufficiency	6/15	OMIM:617193
6904	TBCD	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:496641
6904	TBCD	HP:0002069	Bilateral tonic-clonic seizure	2/8	OMIM:617193
6904	TBCD	HP:0002061	Lower limb spasticity	7/7	OMIM:617193
6904	TBCD	HP:0002079	Hypoplasia of the corpus callosum	HP:0040281	ORPHA:496641
6904	TBCD	HP:0002079	Hypoplasia of the corpus callosum	6/7	OMIM:617193
6904	TBCD	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:496641
6904	TBCD	HP:0002119	Ventriculomegaly	2/7	OMIM:617193
6904	TBCD	HP:0003429	CNS hypomyelination	1/7	OMIM:617193
6904	TBCD	HP:0002187	Intellectual disability, profound	HP:0040282	ORPHA:496641
6904	TBCD	HP:0002191	Progressive spasticity	HP:0040282	ORPHA:496641
6904	TBCD	HP:0002171	Gliosis	-	OMIM:617193
6904	TBCD	HP:0003593	Infantile onset	6/8	OMIM:617193
6904	TBCD	HP:0003577	Congenital onset	2/8	OMIM:617193
6904	TBCD	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040283	ORPHA:496641
6904	TBCD	HP:0007002	Motor axonal neuropathy	HP:0040284	ORPHA:496641
6904	TBCD	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:496641
6904	TBCD	HP:0011968	Feeding difficulties	4/7	OMIM:617193
6904	TBCD	HP:0002380	Fasciculations	HP:0040283	ORPHA:496641
6904	TBCD	HP:0002376	Developmental regression	HP:0040283	ORPHA:496641
6904	TBCD	HP:0002376	Developmental regression	6/8	OMIM:617193
6904	TBCD	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040284	ORPHA:496641
6904	TBCD	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:496641
6904	TBCD	HP:0001007	Hirsutism	HP:0040284	ORPHA:496641
6904	TBCD	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:496641
6904	TBCD	HP:0010818	Generalized tonic seizure	4/8	OMIM:617193
6904	TBCD	HP:0009765	Low hanging columella	1/7	OMIM:617193
6904	TBCD	HP:0007179	Absent smooth pursuit	HP:0040282	ORPHA:496641
6904	TBCD	HP:0007179	Absent smooth pursuit	8/8	OMIM:617193
6904	TBCD	HP:0006808	Cerebral hypomyelination	HP:0040282	ORPHA:496641
6904	TBCD	HP:0000639	Nystagmus	2/7	OMIM:617193
6904	TBCD	HP:0000648	Optic atrophy	HP:0040282	ORPHA:496641
6904	TBCD	HP:0000648	Optic atrophy	10/14	OMIM:617193
6904	TBCD	HP:0000687	Widely spaced teeth	HP:0040283	ORPHA:496641
6904	TBCD	HP:0000687	Widely spaced teeth	4/7	OMIM:617193
6904	TBCD	HP:0012646	Retractile testis	2/3	OMIM:617193
6904	TBCD	HP:0000664	Synophrys	1/7	OMIM:617193
6904	TBCD	HP:0006986	Upper limb spasticity	6/7	OMIM:617193
6904	TBCD	HP:0003084	Recurrent long bone fractures	HP:0040283	ORPHA:496641
6904	TBCD	HP:0000767	Pectus excavatum	HP:0040284	ORPHA:496641
6904	TBCD	HP:0000768	Pectus carinatum	HP:0040284	ORPHA:496641
6904	TBCD	HP:0000733	Motor stereotypy	HP:0040284	ORPHA:496641
6904	TBCD	HP:0000750	Delayed speech and language development	7/7	OMIM:617193
6904	TBCD	HP:0011451	Primary microcephaly	HP:0040283	ORPHA:496641
6904	TBCD	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:496641
6904	TBCD	HP:0003236	Elevated circulating creatine kinase concentration	4/8	OMIM:617193
6904	TBCD	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:496641
6904	TBCD	HP:0003202	Skeletal muscle atrophy	6/8	OMIM:617193
6904	TBCD	HP:0045075	Sparse eyebrow	HP:0040283	ORPHA:496641
6904	TBCD	HP:0045075	Sparse eyebrow	2/7	OMIM:617193
6904	TBCD	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:496641
6904	TBCD	HP:0002804	Arthrogryposis multiplex congenita	1/8	OMIM:617193
6904	TBCD	HP:0000252	Microcephaly	4/7	OMIM:617193
6904	TBCD	HP:0002878	Respiratory failure	HP:0040282	ORPHA:496641
6904	TBCD	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:496641
6904	TBCD	HP:0001510	Growth delay	HP:0040281	ORPHA:496641
6904	TBCD	HP:0001510	Growth delay	6/8	OMIM:617193
6904	TBCD	HP:0011097	Epileptic spasm	1/8	OMIM:617193
6904	TBCD	HP:0006532	Recurrent pneumonia	HP:0040284	ORPHA:496641
6904	TBCD	HP:0000341	Narrow forehead	1/7	OMIM:617193
6904	TBCD	HP:0000347	Micrognathia	HP:0040283	ORPHA:496641
6904	TBCD	HP:0000347	Micrognathia	2/7	OMIM:617193
6904	TBCD	HP:0000316	Hypertelorism	HP:0040283	ORPHA:496641
6904	TBCD	HP:0000316	Hypertelorism	1/7	OMIM:617193
6904	TBCD	HP:0000400	Macrotia	HP:0040284	ORPHA:496641
6904	TBCD	HP:0000486	Strabismus	1/7	OMIM:617193
6904	TBCD	HP:0000490	Deeply set eye	1/7	OMIM:617193
6904	TBCD	HP:0012450	Chronic constipation	HP:0040283	ORPHA:496641
6904	TBCD	HP:0005484	Secondary microcephaly	HP:0040282	ORPHA:496641
6904	TBCD	HP:0005484	Secondary microcephaly	8/8	OMIM:617193
6904	TBCD	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:496641
6904	TBCD	HP:0000582	Upslanted palpebral fissure	2/7	OMIM:617193
6905	TBCE	HP:0002497	Spastic ataxia	HP:0040281	ORPHA:496756
6905	TBCE	HP:0002448	Progressive encephalopathy	HP:0040281	ORPHA:496756
6905	TBCE	HP:0007269	Spinal muscular atrophy	HP:0040281	ORPHA:496756
6905	TBCE	HP:0007269	Spinal muscular atrophy	-	OMIM:617207
6905	TBCE	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6905	TBCE	HP:0002425	Anarthria	HP:0040283	ORPHA:496756
6905	TBCE	HP:0001298	Encephalopathy	-	OMIM:617207
6905	TBCE	HP:0001293	Cranial nerve compression	-	OMIM:131300
6905	TBCE	HP:0001290	Generalized hypotonia	4/6	OMIM:617207
6905	TBCE	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:496756
6905	TBCE	HP:0001272	Cerebellar atrophy	-	OMIM:617207
6905	TBCE	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:496756
6905	TBCE	HP:0001285	Spastic tetraparesis	HP:0040283	ORPHA:496756
6905	TBCE	HP:0001281	Tetany	-	OMIM:244460
6905	TBCE	HP:0001281	Tetany	-	OMIM:241410
6905	TBCE	HP:0001250	Seizure	1/1	OMIM:241410
6905	TBCE	HP:0001250	Seizure	-	OMIM:244460
6905	TBCE	HP:0001250	Seizure	HP:0040281	ORPHA:2323
6905	TBCE	HP:0001250	Seizure	2/6	OMIM:617207
6905	TBCE	HP:0001250	Seizure	HP:0040284	ORPHA:496756
6905	TBCE	HP:0001252	Hypotonia	2/7	OMIM:615777
6905	TBCE	HP:0001251	Ataxia	4/6	OMIM:617207
6905	TBCE	HP:0001249	Intellectual disability	-	OMIM:241410
6905	TBCE	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2323
6905	TBCE	HP:0001249	Intellectual disability	6/6	OMIM:617207
6905	TBCE	HP:0001249	Intellectual disability	HP:0040282	ORPHA:496756
6905	TBCE	HP:0001249	Intellectual disability	5/7	OMIM:615777
6905	TBCE	HP:0001260	Dysarthria	4/6	OMIM:617207
6905	TBCE	HP:0001260	Dysarthria	HP:0040282	ORPHA:496756
6905	TBCE	HP:0001263	Global developmental delay	6/6	OMIM:617207
6905	TBCE	HP:0001263	Global developmental delay	HP:0040282	ORPHA:496756
6905	TBCE	HP:0001263	Global developmental delay	-	OMIM:615777
6905	TBCE	HP:0001257	Spasticity	6/6	OMIM:617207
6905	TBCE	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:2323
6905	TBCE	HP:0002515	Waddling gait	54/102	OMIM:131300
6905	TBCE	HP:0002510	Spastic tetraplegia	2/6	OMIM:617207
6905	TBCE	HP:0000054	Micropenis	-	OMIM:241410
6905	TBCE	HP:0001382	Joint hypermobility	-	OMIM:615777
6905	TBCE	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6905	TBCE	HP:0000028	Cryptorchidism	-	OMIM:241410
6905	TBCE	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2323
6905	TBCE	HP:0008897	Postnatal growth retardation	-	OMIM:241410
6905	TBCE	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:2323
6905	TBCE	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6905	TBCE	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:93324
6905	TBCE	HP:0008846	Severe intrauterine growth retardation	1/1	OMIM:241410
6905	TBCE	HP:0008846	Severe intrauterine growth retardation	HP:0040281	ORPHA:2323
6905	TBCE	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6905	TBCE	HP:0001324	Muscle weakness	40/96	OMIM:131300
6905	TBCE	HP:0001344	Absent speech	2/6	OMIM:617207
6905	TBCE	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6905	TBCE	HP:0000007	Autosomal recessive inheritance	-	OMIM:241410
6905	TBCE	HP:0000007	Autosomal recessive inheritance	-	OMIM:244460
6905	TBCE	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6905	TBCE	HP:0000007	Autosomal recessive inheritance	-	OMIM:617207
6905	TBCE	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6905	TBCE	HP:0002650	Scoliosis	3/6	OMIM:617207
6905	TBCE	HP:0002650	Scoliosis	HP:0040283	ORPHA:496756
6905	TBCE	HP:0002650	Scoliosis	12/14	OMIM:131300
6905	TBCE	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6905	TBCE	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6905	TBCE	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6905	TBCE	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6905	TBCE	HP:0000193	Bifid uvula	-	OMIM:241410
6905	TBCE	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:2323
6905	TBCE	HP:0000175	Cleft palate	2/7	OMIM:615777
6905	TBCE	HP:0001476	Delayed closure of the anterior fontanelle	-	OMIM:244460
6905	TBCE	HP:0008936	Axial hypotonia	1/1	OMIM:241410
6905	TBCE	HP:0002750	Delayed skeletal maturation	-	OMIM:241410
6905	TBCE	HP:0002750	Delayed skeletal maturation	-	OMIM:244460
6905	TBCE	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2323
6905	TBCE	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:93324
6905	TBCE	HP:0002718	Recurrent bacterial infections	-	OMIM:241410
6905	TBCE	HP:0002718	Recurrent bacterial infections	-	OMIM:244460
6905	TBCE	HP:0002007	Frontal bossing	-	OMIM:241410
6905	TBCE	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:617207
6905	TBCE	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:241410
6905	TBCE	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:496756
6905	TBCE	HP:0003388	Easy fatigability	36/76	OMIM:131300
6905	TBCE	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6905	TBCE	HP:0008198	Congenital hypoparathyroidism	HP:0040281	ORPHA:2323
6905	TBCE	HP:0008198	Congenital hypoparathyroidism	-	OMIM:244460
6905	TBCE	HP:0008198	Congenital hypoparathyroidism	HP:0040281	ORPHA:93324
6905	TBCE	HP:0008198	Congenital hypoparathyroidism	1/1	OMIM:241410
6905	TBCE	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:496756
6905	TBCE	HP:0003477	Peripheral axonal neuropathy	-	OMIM:617207
6905	TBCE	HP:0003472	Hypocalcemic tetany	HP:0040282	ORPHA:93324
6905	TBCE	HP:0002119	Ventriculomegaly	-	OMIM:241410
6905	TBCE	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:2323
6905	TBCE	HP:0003444	EMG: chronic denervation signs	HP:0040282	ORPHA:496756
6905	TBCE	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:2323
6905	TBCE	HP:0002199	Hypocalcemic seizures	1/1	OMIM:241410
6905	TBCE	HP:0002199	Hypocalcemic seizures	HP:0040281	ORPHA:93324
6905	TBCE	HP:0003593	Infantile onset	4/6	OMIM:617207
6905	TBCE	HP:0003577	Congenital onset	1/6	OMIM:617207
6905	TBCE	HP:0003577	Congenital onset	1/1	OMIM:241410
6905	TBCE	HP:0003561	Birth length less than 3rd percentile	-	OMIM:244460
6905	TBCE	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:2323
6905	TBCE	HP:0003510	Severe short stature	7/7	OMIM:615777
6905	TBCE	HP:0003508	Proportionate short stature	-	OMIM:244460
6905	TBCE	HP:0003698	Difficulty standing	HP:0040282	ORPHA:496756
6905	TBCE	HP:0003693	Distal amyotrophy	HP:0040281	ORPHA:496756
6905	TBCE	HP:0003693	Distal amyotrophy	6/6	OMIM:617207
6905	TBCE	HP:0002376	Developmental regression	HP:0040282	ORPHA:496756
6905	TBCE	HP:0003676	Progressive	-	OMIM:617207
6905	TBCE	HP:0002315	Headache	-	OMIM:131300
6905	TBCE	HP:0004976	Knee dislocation	6/7	OMIM:615777
6905	TBCE	HP:0009803	Short phalanx of finger	-	OMIM:615777
6905	TBCE	HP:0200055	Small hand	HP:0040281	ORPHA:2323
6905	TBCE	HP:0200055	Small hand	-	OMIM:241410
6905	TBCE	HP:0200055	Small hand	-	OMIM:244460
6905	TBCE	HP:0200055	Small hand	HP:0040282	ORPHA:93324
6905	TBCE	HP:0009763	Limb pain	63/92	OMIM:131300
6905	TBCE	HP:0003621	Juvenile onset	-	OMIM:131300
6905	TBCE	HP:0007199	Progressive spastic paraparesis	HP:0040283	ORPHA:496756
6905	TBCE	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6905	TBCE	HP:0004279	Short palm	-	OMIM:241410
6905	TBCE	HP:0004279	Short palm	-	OMIM:244460
6905	TBCE	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6905	TBCE	HP:0031817	Decreased circulating parathyroid hormone level	1/1	OMIM:241410
6905	TBCE	HP:6001056	Out-toeing	-	OMIM:131300
6905	TBCE	HP:0000651	Diplopia	-	OMIM:131300
6905	TBCE	HP:0000648	Optic atrophy	2/6	OMIM:617207
6905	TBCE	HP:0000648	Optic atrophy	HP:0040283	ORPHA:496756
6905	TBCE	HP:0001956	Truncal obesity	2/7	OMIM:615777
6905	TBCE	HP:0001903	Anemia	HP:0040283	OMIM:131300
6905	TBCE	HP:0001903	Anemia	-	OMIM:244460
6905	TBCE	HP:0010049	Short metacarpal	-	OMIM:615777
6905	TBCE	HP:0012678	Iron accumulation in substantia nigra	HP:0040283	ORPHA:496756
6905	TBCE	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:2323
6905	TBCE	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:496756
6905	TBCE	HP:0009027	Foot dorsiflexor weakness	2/6	OMIM:617207
6905	TBCE	HP:0000678	Dental crowding	-	OMIM:615777
6905	TBCE	HP:0000670	Carious teeth	-	OMIM:131300
6905	TBCE	HP:0000670	Carious teeth	-	OMIM:244460
6905	TBCE	HP:0000670	Carious teeth	HP:0040282	ORPHA:93324
6905	TBCE	HP:0011304	Broad thumb	2/7	OMIM:615777
6905	TBCE	HP:0000668	Hypodontia	-	OMIM:615777
6905	TBCE	HP:0000664	Synophrys	-	OMIM:615777
6905	TBCE	HP:0004322	Short stature	HP:0040281	ORPHA:2323
6905	TBCE	HP:0004331	Decreased skull ossification	-	OMIM:244460
6905	TBCE	HP:0004331	Decreased skull ossification	HP:0040282	ORPHA:93324
6905	TBCE	HP:0004396	Poor appetite	-	OMIM:131300
6905	TBCE	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6905	TBCE	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6905	TBCE	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6905	TBCE	HP:0003026	Short long bone	7/7	OMIM:615777
6905	TBCE	HP:0005686	Patchy osteosclerosis	HP:0040283	ORPHA:2323
6905	TBCE	HP:0005686	Patchy osteosclerosis	-	OMIM:241410
6905	TBCE	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6905	TBCE	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6905	TBCE	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6905	TBCE	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6905	TBCE	HP:0000750	Delayed speech and language development	-	OMIM:615777
6905	TBCE	HP:0011463	Childhood onset	1/6	OMIM:617207
6905	TBCE	HP:0011461	Fetal onset	7/7	OMIM:615777
6905	TBCE	HP:0000774	Narrow chest	2/7	OMIM:615777
6905	TBCE	HP:0003100	Slender long bone	-	OMIM:244460
6905	TBCE	HP:0003198	Myopathy	HP:0040283	ORPHA:2323
6905	TBCE	HP:0000926	Platyspondyly	1/7	OMIM:615777
6905	TBCE	HP:0003180	Flat acetabular roof	-	OMIM:615777
6905	TBCE	HP:0004482	Relative macrocephaly	-	OMIM:615777
6905	TBCE	HP:0005791	Cortical thickening of long bone diaphyses	HP:0040282	ORPHA:93324
6905	TBCE	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6905	TBCE	HP:0000890	Long clavicles	-	OMIM:244460
6905	TBCE	HP:0000883	Thin ribs	-	OMIM:244460
6905	TBCE	HP:0000883	Thin ribs	HP:0040282	ORPHA:93324
6905	TBCE	HP:0000829	Hypoparathyroidism	-	ORPHA:496756
6905	TBCE	HP:0000829	Hypoparathyroidism	HP:0040281	ORPHA:2323
6905	TBCE	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:241410
6905	TBCE	HP:0000823	Delayed puberty	-	OMIM:131300
6905	TBCE	HP:0000894	Short clavicles	-	OMIM:615777
6905	TBCE	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6905	TBCE	HP:0100254	Stenosis of the medullary cavity of the long bones	HP:0040282	ORPHA:93324
6905	TBCE	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6905	TBCE	HP:0008056	Aplasia/Hypoplasia affecting the eye	HP:0040283	ORPHA:2323
6905	TBCE	HP:0000286	Epicanthus	1/7	OMIM:615777
6905	TBCE	HP:0000280	Coarse facial features	2/7	OMIM:615777
6905	TBCE	HP:0000293	Full cheeks	HP:0040282	ORPHA:93324
6905	TBCE	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:93324
6905	TBCE	HP:0006470	Thin long bone diaphyses	HP:0040282	ORPHA:93324
6905	TBCE	HP:0002827	Hip dislocation	3/7	OMIM:615777
6905	TBCE	HP:0000252	Microcephaly	-	OMIM:241410
6905	TBCE	HP:0000252	Microcephaly	HP:0040281	ORPHA:2323
6905	TBCE	HP:0000252	Microcephaly	HP:0040282	ORPHA:93324
6905	TBCE	HP:0000252	Microcephaly	-	OMIM:615777
6905	TBCE	HP:0000219	Thin upper lip vermilion	1/1	OMIM:241410
6905	TBCE	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:2323
6905	TBCE	HP:0000233	Thin vermilion border	-	OMIM:241410
6905	TBCE	HP:0002857	Genu valgum	-	OMIM:131300
6905	TBCE	HP:0001533	Slender build	-	OMIM:131300
6905	TBCE	HP:0001507	Growth abnormality	0/6	OMIM:617207
6905	TBCE	HP:0001511	Intrauterine growth retardation	-	OMIM:244460
6905	TBCE	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6905	TBCE	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:93324
6905	TBCE	HP:0001510	Growth delay	-	ORPHA:496756
6905	TBCE	HP:0001510	Growth delay	HP:0040282	ORPHA:93324
6905	TBCE	HP:0007807	Optic nerve compression	-	OMIM:131300
6905	TBCE	HP:0012368	Flat face	7/7	OMIM:615777
6905	TBCE	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:2323
6905	TBCE	HP:0005214	Intestinal obstruction	HP:0040283	ORPHA:2323
6905	TBCE	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6905	TBCE	HP:0002917	Hypomagnesemia	-	OMIM:244460
6905	TBCE	HP:0002905	Hyperphosphatemia	1/1	OMIM:241410
6905	TBCE	HP:0002905	Hyperphosphatemia	HP:0040281	ORPHA:2323
6905	TBCE	HP:0002901	Hypocalcemia	HP:0040281	ORPHA:2323
6905	TBCE	HP:0002901	Hypocalcemia	1/1	OMIM:241410
6905	TBCE	HP:0002901	Hypocalcemia	-	OMIM:244460
6905	TBCE	HP:0002901	Hypocalcemia	HP:0040281	ORPHA:93324
6905	TBCE	HP:0000365	Hearing impairment	10/67	OMIM:131300
6905	TBCE	HP:0000358	Posteriorly rotated ears	-	OMIM:241410
6905	TBCE	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:2323
6905	TBCE	HP:0000369	Low-set ears	-	OMIM:241410
6905	TBCE	HP:0000343	Long philtrum	1/1	OMIM:241410
6905	TBCE	HP:0000343	Long philtrum	HP:0040281	ORPHA:2323
6905	TBCE	HP:0000343	Long philtrum	1/7	OMIM:615777
6905	TBCE	HP:0011001	Increased bone mineral density	-	OMIM:131300
6905	TBCE	HP:0000348	High forehead	HP:0040281	ORPHA:2323
6905	TBCE	HP:0000347	Micrognathia	1/1	OMIM:241410
6905	TBCE	HP:0000347	Micrognathia	HP:0040281	ORPHA:2323
6905	TBCE	HP:0000316	Hypertelorism	-	OMIM:244460
6905	TBCE	HP:0000316	Hypertelorism	HP:0040282	ORPHA:93324
6905	TBCE	HP:0000311	Round face	2/7	OMIM:615777
6905	TBCE	HP:0002970	Genu varum	-	OMIM:615777
6905	TBCE	HP:0000303	Mandibular prognathia	-	OMIM:131300
6905	TBCE	HP:0007957	Corneal opacity	HP:0040283	ORPHA:2323
6905	TBCE	HP:0005374	Cellular immunodeficiency	HP:0040283	ORPHA:2323
6905	TBCE	HP:0006645	Thin clavicles	-	OMIM:244460
6905	TBCE	HP:0006645	Thin clavicles	HP:0040282	ORPHA:93324
6905	TBCE	HP:0005280	Depressed nasal bridge	1/1	OMIM:241410
6905	TBCE	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:2323
6905	TBCE	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6905	TBCE	HP:0000483	Astigmatism	HP:0040283	ORPHA:2323
6905	TBCE	HP:0000490	Deeply set eye	1/1	OMIM:241410
6905	TBCE	HP:0000490	Deeply set eye	HP:0040281	ORPHA:2323
6905	TBCE	HP:0012448	Delayed myelination	-	OMIM:241410
6905	TBCE	HP:0000470	Short neck	1/7	OMIM:615777
6905	TBCE	HP:0001773	Short foot	HP:0040281	ORPHA:2323
6905	TBCE	HP:0001773	Short foot	-	OMIM:241410
6905	TBCE	HP:0001773	Short foot	-	OMIM:244460
6905	TBCE	HP:0001773	Short foot	HP:0040282	ORPHA:93324
6905	TBCE	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6905	TBCE	HP:0001763	Pes planus	1/7	OMIM:615777
6905	TBCE	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:2323
6905	TBCE	HP:0000444	Convex nasal ridge	1/1	OMIM:241410
6905	TBCE	HP:0005450	Calvarial osteosclerosis	-	OMIM:244460
6905	TBCE	HP:0005450	Calvarial osteosclerosis	HP:0040282	ORPHA:93324
6905	TBCE	HP:0001840	Metatarsus adductus	-	OMIM:615777
6905	TBCE	HP:0000520	Proptosis	2/4	OMIM:131300
6905	TBCE	HP:0000520	Proptosis	7/7	OMIM:615777
6905	TBCE	HP:0000592	Blue sclerae	2/7	OMIM:615777
6905	TBCE	HP:0011220	Prominent forehead	-	OMIM:241410
6905	TBCE	HP:0000568	Microphthalmia	1/1	OMIM:241410
6905	TBCE	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6905	TBCE	HP:0012514	Lower limb pain	4/4	OMIM:131300
6907	TBL1X	HP:0001417	X-linked inheritance	-	OMIM:301033
6907	TBL1X	HP:0002019	Constipation	-	OMIM:301033
6907	TBL1X	HP:0011787	Central hypothyroidism	-	OMIM:301033
6907	TBL1X	HP:0003593	Infantile onset	6/8	OMIM:301033
6907	TBL1X	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:301033
6907	TBL1X	HP:0031987	Diminished ability to concentrate	-	OMIM:301033
6907	TBL1X	HP:0003124	Hypercholesterolemia	-	OMIM:301033
6907	TBL1X	HP:0000869	Secondary amenorrhea	-	OMIM:301033
6907	TBL1X	HP:0033075	Inappropriately normal thyroid-stimulating hormone level	-	OMIM:301033
6907	TBL1X	HP:0033078	Decreased circulating free T4 concentration	7/17	OMIM:301033
6907	TBL1X	HP:0000256	Macrocephaly	-	OMIM:301033
6908	TBP	HP:0007311	Short stepped shuffling gait	-	OMIM:168600
6908	TBP	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:98759
6908	TBP	HP:0003745	Sporadic	-	OMIM:168600
6908	TBP	HP:0002403	Positive Romberg sign	-	OMIM:607136
6908	TBP	HP:0001272	Cerebellar atrophy	-	OMIM:607136
6908	TBP	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:98759
6908	TBP	HP:0001268	Mental deterioration	HP:0040282	ORPHA:98759
6908	TBP	HP:0001289	Confusion	-	OMIM:607136
6908	TBP	HP:0001288	Gait disturbance	HP:0040281	ORPHA:98759
6908	TBP	HP:0001250	Seizure	-	OMIM:607136
6908	TBP	HP:0001251	Ataxia	HP:0040281	ORPHA:98759
6908	TBP	HP:0001251	Ataxia	12/15	OMIM:607136
6908	TBP	HP:0001260	Dysarthria	-	OMIM:168600
6908	TBP	HP:0001260	Dysarthria	-	OMIM:607136
6908	TBP	HP:0001257	Spasticity	HP:0040282	ORPHA:98759
6908	TBP	HP:0007366	Atrophy/Degeneration affecting the brainstem	HP:0040282	ORPHA:98759
6908	TBP	HP:0002529	Neuronal loss in central nervous system	-	OMIM:168600
6908	TBP	HP:0002529	Neuronal loss in central nervous system	HP:0040282	ORPHA:98759
6908	TBP	HP:0002529	Neuronal loss in central nervous system	-	OMIM:607136
6908	TBP	HP:0002506	Diffuse cerebral atrophy	-	OMIM:607136
6908	TBP	HP:0000020	Urinary incontinence	-	OMIM:607136
6908	TBP	HP:0012082	Cerebellar Purkinje layer atrophy	HP:0040282	ORPHA:98759
6908	TBP	HP:0001332	Dystonia	-	OMIM:168600
6908	TBP	HP:0001332	Dystonia	-	OMIM:607136
6908	TBP	HP:0001332	Dystonia	HP:0040282	ORPHA:98759
6908	TBP	HP:0000012	Urinary urgency	-	OMIM:168600
6908	TBP	HP:0001337	Tremor	-	OMIM:168600
6908	TBP	HP:0000006	Autosomal dominant inheritance	-	OMIM:168600
6908	TBP	HP:0000006	Autosomal dominant inheritance	-	OMIM:607136
6908	TBP	HP:0001336	Myoclonus	-	OMIM:607136
6908	TBP	HP:0001310	Dysmetria	-	OMIM:607136
6908	TBP	HP:0001300	Parkinsonism	-	OMIM:607136
6908	TBP	HP:0001300	Parkinsonism	HP:0040282	ORPHA:98759
6908	TBP	HP:0001300	Parkinsonism	-	OMIM:168600
6908	TBP	HP:0007668	Impaired pursuit initiation and maintenance	-	OMIM:607136
6908	TBP	HP:0002019	Constipation	-	OMIM:168600
6908	TBP	HP:0002015	Dysphagia	-	OMIM:168600
6908	TBP	HP:0002015	Dysphagia	-	OMIM:607136
6908	TBP	HP:0002080	Intention tremor	-	OMIM:607136
6908	TBP	HP:0002067	Bradykinesia	-	OMIM:607136
6908	TBP	HP:0002067	Bradykinesia	-	OMIM:168600
6908	TBP	HP:0002066	Gait ataxia	-	OMIM:607136
6908	TBP	HP:0002063	Rigidity	-	OMIM:607136
6908	TBP	HP:0002063	Rigidity	HP:0040282	ORPHA:98759
6908	TBP	HP:0002063	Rigidity	-	OMIM:168600
6908	TBP	HP:0002072	Chorea	3/5	OMIM:607136
6908	TBP	HP:0002072	Chorea	HP:0040282	ORPHA:98759
6908	TBP	HP:0002070	Limb ataxia	-	OMIM:607136
6908	TBP	HP:0002136	Broad-based gait	-	OMIM:607136
6908	TBP	HP:0002186	Apraxia	-	OMIM:607136
6908	TBP	HP:0002171	Gliosis	-	OMIM:607136
6908	TBP	HP:0002172	Postural instability	-	OMIM:168600
6908	TBP	HP:0003596	Middle age onset	2/9	OMIM:607136
6908	TBP	HP:0003587	Insidious onset	-	OMIM:168600
6908	TBP	HP:0003584	Late onset	1/9	OMIM:607136
6908	TBP	HP:0003584	Late onset	-	OMIM:168600
6908	TBP	HP:0003581	Adult onset	9/9	OMIM:607136
6908	TBP	HP:0003581	Adult onset	-	OMIM:168600
6908	TBP	HP:0011999	Paranoia	-	OMIM:607136
6908	TBP	HP:0011960	Substantia nigra gliosis	-	OMIM:168600
6908	TBP	HP:0007058	Generalized cerebral atrophy/hypoplasia	HP:0040282	ORPHA:98759
6908	TBP	HP:0002360	Sleep abnormality	-	OMIM:168600
6908	TBP	HP:0003676	Progressive	-	OMIM:607136
6908	TBP	HP:0003676	Progressive	-	OMIM:168600
6908	TBP	HP:0002356	Writer's cramp	HP:0040282	ORPHA:98759
6908	TBP	HP:0002322	Resting tremor	-	OMIM:168600
6908	TBP	HP:0002300	Mutism	-	OMIM:607136
6908	TBP	HP:0000640	Gaze-evoked nystagmus	-	OMIM:607136
6908	TBP	HP:0000643	Blepharospasm	HP:0040282	ORPHA:98759
6908	TBP	HP:0004305	Involuntary movements	HP:0040282	ORPHA:98759
6908	TBP	HP:0031908	Micrographia	-	OMIM:168600
6908	TBP	HP:0000757	Lack of insight	-	OMIM:607136
6908	TBP	HP:0000751	Personality changes	-	OMIM:168600
6908	TBP	HP:0000738	Hallucinations	HP:0040283	OMIM:168600
6908	TBP	HP:0000738	Hallucinations	-	OMIM:607136
6908	TBP	HP:0000743	Frontal release signs	-	OMIM:607136
6908	TBP	HP:0000716	Depression	-	OMIM:607136
6908	TBP	HP:0000716	Depression	-	OMIM:168600
6908	TBP	HP:0000718	Aggressive behavior	-	OMIM:607136
6908	TBP	HP:0000727	Frontal lobe dementia	-	OMIM:607136
6908	TBP	HP:0000726	Dementia	5/5	OMIM:607136
6908	TBP	HP:0000726	Dementia	-	OMIM:168600
6908	TBP	HP:0000708	Atypical behavior	HP:0040282	ORPHA:98759
6908	TBP	HP:0011462	Young adult onset	6/9	OMIM:607136
6908	TBP	HP:0100315	Lewy bodies	-	OMIM:168600
6908	TBP	HP:0000298	Mask-like facies	-	OMIM:168600
6908	TBP	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	OMIM:168600
6908	TBP	HP:0001621	Weak voice	-	OMIM:168600
6908	TBP	HP:0000473	Torticollis	HP:0040282	ORPHA:98759
6909	TBX2	HP:0009918	Ectopia pupillae	2/4	OMIM:618223
6909	TBX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618223
6909	TBX2	HP:0002650	Scoliosis	2/4	OMIM:618223
6909	TBX2	HP:0000189	Narrow palate	1/4	OMIM:618223
6909	TBX2	HP:0000175	Cleft palate	3/4	OMIM:618223
6909	TBX2	HP:0410030	Cleft lip	1/4	OMIM:618223
6909	TBX2	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	3/4	OMIM:618223
6909	TBX2	HP:0003577	Congenital onset	4/4	OMIM:618223
6909	TBX2	HP:0007018	Attention deficit hyperactivity disorder	1/4	OMIM:618223
6909	TBX2	HP:0001076	Glabellar hemangioma	1/4	OMIM:618223
6909	TBX2	HP:0011342	Mild global developmental delay	1/4	OMIM:618223
6909	TBX2	HP:0004322	Short stature	2/4	OMIM:618223
6909	TBX2	HP:0000729	Autistic behavior	1/4	OMIM:618223
6909	TBX2	HP:0000912	Sprengel anomaly	3/4	OMIM:618223
6909	TBX2	HP:0000872	Hashimoto thyroiditis	1/4	OMIM:618223
6909	TBX2	HP:0000829	Hypoparathyroidism	1/4	OMIM:618223
6909	TBX2	HP:0000824	Decreased response to growth hormone stimulation test	1/4	OMIM:618223
6909	TBX2	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	3/4	OMIM:618223
6909	TBX2	HP:0000286	Epicanthus	3/4	OMIM:618223
6909	TBX2	HP:0000294	Low anterior hairline	1/4	OMIM:618223
6909	TBX2	HP:0002808	Kyphosis	1/4	OMIM:618223
6909	TBX2	HP:0000248	Brachycephaly	1/4	OMIM:618223
6909	TBX2	HP:0002846	Abnormal B cell morphology	1/4	OMIM:618223
6909	TBX2	HP:0000378	Cupped ear	3/4	OMIM:618223
6909	TBX2	HP:0000396	Overfolded helix	1/4	OMIM:618223
6909	TBX2	HP:0002937	Hemivertebrae	1/4	OMIM:618223
6909	TBX2	HP:0000369	Low-set ears	3/4	OMIM:618223
6909	TBX2	HP:0000316	Hypertelorism	3/4	OMIM:618223
6909	TBX2	HP:0001643	Patent ductus arteriosus	1/4	OMIM:618223
6909	TBX2	HP:0001642	Pulmonic stenosis	1/4	OMIM:618223
6909	TBX2	HP:0000325	Triangular face	2/4	OMIM:618223
6909	TBX2	HP:0001631	Atrial septal defect	1/4	OMIM:618223
6909	TBX2	HP:0005359	Aplasia of the thymus	1/4	OMIM:618223
6909	TBX2	HP:0001719	Double outlet right ventricle	1/4	OMIM:618223
6909	TBX2	HP:0005280	Depressed nasal bridge	1/4	OMIM:618223
6909	TBX2	HP:0000455	Broad nasal tip	1/4	OMIM:618223
6909	TBX2	HP:0000470	Short neck	1/4	OMIM:618223
6909	TBX2	HP:0000465	Webbed neck	1/4	OMIM:618223
6909	TBX2	HP:0000437	Depressed nasal tip	1/4	OMIM:618223
6909	TBX2	HP:0005403	Decreased total T cell count	1/4	OMIM:618223
6910	TBX5	HP:0001171	Split hand	HP:0040281	ORPHA:392
6910	TBX5	HP:0001162	Postaxial hand polydactyly	3/4	OMIM:142900
6910	TBX5	HP:0001159	Syndactyly	7/55	OMIM:142900
6910	TBX5	HP:0009944	Partial duplication of thumb phalanx	-	OMIM:142900
6910	TBX5	HP:0001199	Triphalangeal thumb	HP:0040282	ORPHA:392
6910	TBX5	HP:0001199	Triphalangeal thumb	46/186	OMIM:142900
6910	TBX5	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
6910	TBX5	HP:0001191	Abnormal carpal morphology	40/42	OMIM:142900
6910	TBX5	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6910	TBX5	HP:0001293	Cranial nerve compression	-	OMIM:131300
6910	TBX5	HP:0001279	Syncope	HP:0040282	ORPHA:101016
6910	TBX5	HP:0001250	Seizure	HP:0040283	ORPHA:101016
6910	TBX5	HP:0001252	Hypotonia	2/7	OMIM:615777
6910	TBX5	HP:0001249	Intellectual disability	5/7	OMIM:615777
6910	TBX5	HP:0001263	Global developmental delay	-	OMIM:615777
6910	TBX5	HP:0001233	2-3 finger cutaneous syndactyly	1/1	OMIM:142900
6910	TBX5	HP:0001245	Small thenar eminence	42/55	OMIM:142900
6910	TBX5	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:392
6910	TBX5	HP:0031095	Abnormal humerus morphology	HP:0040283	ORPHA:392
6910	TBX5	HP:0002515	Waddling gait	54/102	OMIM:131300
6910	TBX5	HP:0003834	Shoulder dislocation	1/1	OMIM:142900
6910	TBX5	HP:0001377	Limited elbow extension	30/56	OMIM:142900
6910	TBX5	HP:0001387	Joint stiffness	HP:0040281	ORPHA:392
6910	TBX5	HP:0001382	Joint hypermobility	-	OMIM:615777
6910	TBX5	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6910	TBX5	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6910	TBX5	HP:0006156	Ulnar deviation of thumb	1/1	OMIM:142900
6910	TBX5	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6910	TBX5	HP:0001324	Muscle weakness	40/96	OMIM:131300
6910	TBX5	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6910	TBX5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6910	TBX5	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
6910	TBX5	HP:0000006	Autosomal dominant inheritance	20/20	OMIM:142900
6910	TBX5	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6910	TBX5	HP:0002650	Scoliosis	HP:0040282	ORPHA:392
6910	TBX5	HP:0002650	Scoliosis	12/14	OMIM:131300
6910	TBX5	HP:0003982	Aplasia of the ulna	5/56	OMIM:142900
6910	TBX5	HP:0003974	Absent radius	28/123	OMIM:142900
6910	TBX5	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6910	TBX5	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6910	TBX5	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6910	TBX5	HP:0031134	Cor triatriatum sinister	1/1	OMIM:142900
6910	TBX5	HP:0000185	Cleft soft palate	2/2	OMIM:142900
6910	TBX5	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6910	TBX5	HP:0000175	Cleft palate	2/7	OMIM:615777
6910	TBX5	HP:0031297	Unroofed coronary sinus	1/153	OMIM:142900
6910	TBX5	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
6910	TBX5	HP:0003363	Abdominal situs inversus	1/1	OMIM:142900
6910	TBX5	HP:0002092	Pulmonary arterial hypertension	8/16	OMIM:142900
6910	TBX5	HP:0003388	Easy fatigability	36/76	OMIM:131300
6910	TBX5	HP:0009460	Aplasia of the 3rd finger	1/1	OMIM:142900
6910	TBX5	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6910	TBX5	HP:0011709	Atrioventricular dissociation	1/1	OMIM:142900
6910	TBX5	HP:0011705	First degree atrioventricular block	HP:0040282	ORPHA:392
6910	TBX5	HP:0011705	First degree atrioventricular block	2/2	OMIM:142900
6910	TBX5	HP:0004602	Cervical C2/C3 vertebral fusion	1/1	OMIM:142900
6910	TBX5	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:392
6910	TBX5	HP:0010487	Small hypothenar eminence	2/2	OMIM:142900
6910	TBX5	HP:0009486	Radial deviation of the hand	1/1	OMIM:142900
6910	TBX5	HP:0004762	Hypoplasia of right ventricle	1/1	OMIM:142900
6910	TBX5	HP:0004757	Paroxysmal atrial fibrillation	HP:0040282	ORPHA:392
6910	TBX5	HP:0004756	Ventricular tachycardia	1/1	OMIM:142900
6910	TBX5	HP:0011939	3-4 finger cutaneous syndactyly	1/3	OMIM:142900
6910	TBX5	HP:0009623	Proximal placement of thumb	3/3	OMIM:142900
6910	TBX5	HP:0009622	Distally placed thumb	1/1	OMIM:142900
6910	TBX5	HP:0011927	Short digit	31/58	OMIM:142900
6910	TBX5	HP:0010567	Y-shaped metatarsals	3/3	OMIM:142900
6910	TBX5	HP:0009577	Short middle phalanx of the 2nd finger	1/1	OMIM:142900
6910	TBX5	HP:0009535	Aplasia of the 2nd finger	1/1	OMIM:142900
6910	TBX5	HP:0003577	Congenital onset	51/52	OMIM:142900
6910	TBX5	HP:0010704	1-2 finger cutaneous syndactyly	5/5	OMIM:142900
6910	TBX5	HP:0011995	Atrial septal dilatation	4/4	OMIM:142900
6910	TBX5	HP:0003510	Severe short stature	7/7	OMIM:615777
6910	TBX5	HP:0002315	Headache	-	OMIM:131300
6910	TBX5	HP:0004976	Knee dislocation	6/7	OMIM:615777
6910	TBX5	HP:0200021	Down-sloping shoulders	HP:0040283	ORPHA:392
6910	TBX5	HP:0200021	Down-sloping shoulders	1/1	OMIM:142900
6910	TBX5	HP:0009829	Phocomelia	-	OMIM:142900
6910	TBX5	HP:0009829	Phocomelia	HP:0040283	ORPHA:392
6910	TBX5	HP:0009824	Upper limb undergrowth	3/3	OMIM:142900
6910	TBX5	HP:0009812	Amelia involving the upper limbs	1/151	OMIM:142900
6910	TBX5	HP:0009813	Upper limb phocomelia	10/153	OMIM:142900
6910	TBX5	HP:0009803	Short phalanx of finger	-	OMIM:615777
6910	TBX5	HP:0010772	Anomalous pulmonary venous return	HP:0040283	ORPHA:392
6910	TBX5	HP:0009777	Absent thumb	HP:0040282	ORPHA:392
6910	TBX5	HP:0009777	Absent thumb	59/186	OMIM:142900
6910	TBX5	HP:0009778	Short thumb	32/98	OMIM:142900
6910	TBX5	HP:0009763	Limb pain	63/92	OMIM:131300
6910	TBX5	HP:0009751	Aplasia of the pectoralis major muscle	34/55	OMIM:142900
6910	TBX5	HP:0003621	Juvenile onset	-	OMIM:131300
6910	TBX5	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6910	TBX5	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
6910	TBX5	HP:0004209	Clinodactyly of the 5th finger	2/2	OMIM:142900
6910	TBX5	HP:0004220	Short middle phalanx of the 5th finger	2/2	OMIM:142900
6910	TBX5	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6910	TBX5	HP:6001056	Out-toeing	-	OMIM:131300
6910	TBX5	HP:0000651	Diplopia	-	OMIM:131300
6910	TBX5	HP:0001956	Truncal obesity	2/7	OMIM:615777
6910	TBX5	HP:0001903	Anemia	HP:0040283	OMIM:131300
6910	TBX5	HP:0010049	Short metacarpal	-	OMIM:615777
6910	TBX5	HP:0010035	Aplasia of the 1st metacarpal	3/3	OMIM:142900
6910	TBX5	HP:0010034	Short 1st metacarpal	1/1	OMIM:142900
6910	TBX5	HP:0000678	Dental crowding	-	OMIM:615777
6910	TBX5	HP:0000670	Carious teeth	-	OMIM:131300
6910	TBX5	HP:0011304	Broad thumb	HP:0040283	ORPHA:392
6910	TBX5	HP:0011304	Broad thumb	2/7	OMIM:615777
6910	TBX5	HP:0000668	Hypodontia	-	OMIM:615777
6910	TBX5	HP:0000664	Synophrys	-	OMIM:615777
6910	TBX5	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
6910	TBX5	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:392
6910	TBX5	HP:0004383	Hypoplastic left heart	HP:0040283	ORPHA:392
6910	TBX5	HP:0004383	Hypoplastic left heart	-	OMIM:142900
6910	TBX5	HP:0004396	Poor appetite	-	OMIM:131300
6910	TBX5	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6910	TBX5	HP:0003031	Ulnar bowing	1/1	OMIM:142900
6910	TBX5	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6910	TBX5	HP:0003042	Elbow dislocation	1/1	OMIM:142900
6910	TBX5	HP:0034198	Second trimester onset	1/2	OMIM:142900
6910	TBX5	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6910	TBX5	HP:0003026	Short long bone	7/7	OMIM:615777
6910	TBX5	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6910	TBX5	HP:0003022	Hypoplasia of the ulna	25/82	OMIM:142900
6910	TBX5	HP:0000772	Abnormal rib morphology	HP:0040283	ORPHA:392
6910	TBX5	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:392
6910	TBX5	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6910	TBX5	HP:0000767	Pectus excavatum	24/61	OMIM:142900
6910	TBX5	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6910	TBX5	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6910	TBX5	HP:0000750	Delayed speech and language development	-	OMIM:615777
6910	TBX5	HP:0011461	Fetal onset	7/7	OMIM:615777
6910	TBX5	HP:0000774	Narrow chest	2/7	OMIM:615777
6910	TBX5	HP:0000774	Narrow chest	1/1	OMIM:142900
6910	TBX5	HP:0005773	Short forearm	1/1	OMIM:142900
6910	TBX5	HP:0000914	Shield chest	3/3	OMIM:142900
6910	TBX5	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:392
6910	TBX5	HP:0000926	Platyspondyly	1/7	OMIM:615777
6910	TBX5	HP:0003180	Flat acetabular roof	-	OMIM:615777
6910	TBX5	HP:0004482	Relative macrocephaly	-	OMIM:615777
6910	TBX5	HP:0004467	Preauricular pit	-	OMIM:187500
6910	TBX5	HP:0005792	Short humerus	40/85	OMIM:142900
6910	TBX5	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6910	TBX5	HP:0030718	Right atrial enlargement	4/4	OMIM:142900
6910	TBX5	HP:0000882	Hypoplastic scapulae	2/2	OMIM:142900
6910	TBX5	HP:0000878	11 pairs of ribs	2/2	OMIM:142900
6910	TBX5	HP:0100379	Aplasia of the distal phalanx of the 4th toe	1/1	OMIM:142900
6910	TBX5	HP:0000889	Abnormal clavicle morphology	HP:0040281	ORPHA:392
6910	TBX5	HP:0100398	Duplication of the distal phalanx of the 3rd toe	1/1	OMIM:142900
6910	TBX5	HP:0000823	Delayed puberty	-	OMIM:131300
6910	TBX5	HP:0040019	Finger clinodactyly	33/55	OMIM:142900
6910	TBX5	HP:0011567	Sinus venosus atrial septal defect	1/1	OMIM:142900
6910	TBX5	HP:0011565	Common atrium	1/153	OMIM:142900
6910	TBX5	HP:0000894	Short clavicles	-	OMIM:615777
6910	TBX5	HP:0000894	Short clavicles	41/56	OMIM:142900
6910	TBX5	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6910	TBX5	HP:0011636	Abnormal coronary artery origin	1/1	OMIM:142900
6910	TBX5	HP:0011623	Muscular ventricular septal defect	14/80	OMIM:142900
6910	TBX5	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6910	TBX5	HP:0000954	Single transverse palmar crease	1/1	OMIM:142900
6910	TBX5	HP:0000960	Sacral dimple	1/1	OMIM:142900
6910	TBX5	HP:0011682	Perimembranous ventricular septal defect	9/80	OMIM:142900
6910	TBX5	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/12	OMIM:142900
6910	TBX5	HP:0000286	Epicanthus	1/7	OMIM:615777
6910	TBX5	HP:0000280	Coarse facial features	2/7	OMIM:615777
6910	TBX5	HP:0000268	Dolichocephaly	1/1	OMIM:142900
6910	TBX5	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
6910	TBX5	HP:0002827	Hip dislocation	3/7	OMIM:615777
6910	TBX5	HP:0002808	Kyphosis	HP:0040282	ORPHA:392
6910	TBX5	HP:0006394	Limited pronation/supination of forearm	5/5	OMIM:142900
6910	TBX5	HP:0000252	Microcephaly	-	OMIM:615777
6910	TBX5	HP:0000218	High palate	3/3	OMIM:142900
6910	TBX5	HP:0002857	Genu valgum	-	OMIM:131300
6910	TBX5	HP:0001533	Slender build	-	OMIM:131300
6910	TBX5	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6910	TBX5	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040282	ORPHA:392
6910	TBX5	HP:0007807	Optic nerve compression	-	OMIM:131300
6910	TBX5	HP:0012368	Flat face	7/7	OMIM:615777
6910	TBX5	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6910	TBX5	HP:0002943	Thoracic scoliosis	-	OMIM:142900
6910	TBX5	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
6910	TBX5	HP:0005180	Tricuspid regurgitation	5/5	OMIM:142900
6910	TBX5	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
6910	TBX5	HP:0000365	Hearing impairment	-	ORPHA:101016
6910	TBX5	HP:0000365	Hearing impairment	10/67	OMIM:131300
6910	TBX5	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
6910	TBX5	HP:0001688	Sinus bradycardia	3/3	OMIM:142900
6910	TBX5	HP:0001674	Complete atrioventricular canal defect	9/103	OMIM:142900
6910	TBX5	HP:0000343	Long philtrum	1/7	OMIM:615777
6910	TBX5	HP:0000343	Long philtrum	1/1	OMIM:142900
6910	TBX5	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
6910	TBX5	HP:0011001	Increased bone mineral density	-	OMIM:131300
6910	TBX5	HP:0000337	Broad forehead	-	OMIM:187500
6910	TBX5	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
6910	TBX5	HP:0001684	Secundum atrial septal defect	47/130	OMIM:142900
6910	TBX5	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:392
6910	TBX5	HP:0001678	Atrioventricular block	HP:0040282	ORPHA:392
6910	TBX5	HP:0000347	Micrognathia	2/2	OMIM:142900
6910	TBX5	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:392
6910	TBX5	HP:0001643	Patent ductus arteriosus	9/53	OMIM:142900
6910	TBX5	HP:0000311	Round face	2/7	OMIM:615777
6910	TBX5	HP:0001642	Pulmonic stenosis	1/1	OMIM:142900
6910	TBX5	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
6910	TBX5	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:392
6910	TBX5	HP:0002974	Radioulnar synostosis	1/1	OMIM:142900
6910	TBX5	HP:0002986	Radial bowing	1/1	OMIM:142900
6910	TBX5	HP:0001653	Mitral regurgitation	4/4	OMIM:142900
6910	TBX5	HP:0002984	Hypoplasia of the radius	64/144	OMIM:142900
6910	TBX5	HP:0001655	Patent foramen ovale	4/103	OMIM:142900
6910	TBX5	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:392
6910	TBX5	HP:0001629	Ventricular septal defect	56/125	OMIM:142900
6910	TBX5	HP:0002970	Genu varum	-	OMIM:615777
6910	TBX5	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
6910	TBX5	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:392
6910	TBX5	HP:0001631	Atrial septal defect	50/52	OMIM:142900
6910	TBX5	HP:0000303	Mandibular prognathia	-	OMIM:131300
6910	TBX5	HP:0001634	Mitral valve prolapse	2/2	OMIM:142900
6910	TBX5	HP:0005301	Persistent left superior vena cava	4/39	OMIM:142900
6910	TBX5	HP:0004058	Hand monodactyly	1/1	OMIM:142900
6910	TBX5	HP:0006695	Atrioventricular canal defect	HP:0040283	ORPHA:392
6910	TBX5	HP:0001709	Third degree atrioventricular block	1/1	OMIM:142900
6910	TBX5	HP:0001704	Tricuspid valve prolapse	1/1	OMIM:142900
6910	TBX5	HP:0001719	Double outlet right ventricle	1/1	OMIM:142900
6910	TBX5	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6910	TBX5	HP:0031546	Cardiac conduction abnormality	14/36	OMIM:142900
6910	TBX5	HP:0030241	Hypoplasia of deltoid muscle	6/6	OMIM:142900
6910	TBX5	HP:0000470	Short neck	1/7	OMIM:615777
6910	TBX5	HP:0000470	Short neck	3/3	OMIM:142900
6910	TBX5	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6910	TBX5	HP:0001763	Pes planus	1/7	OMIM:615777
6910	TBX5	HP:0001840	Metatarsus adductus	-	OMIM:615777
6910	TBX5	HP:0000520	Proptosis	2/4	OMIM:131300
6910	TBX5	HP:0000520	Proptosis	-	OMIM:187500
6910	TBX5	HP:0000520	Proptosis	7/7	OMIM:615777
6910	TBX5	HP:0000592	Blue sclerae	2/7	OMIM:615777
6910	TBX5	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6910	TBX5	HP:0012514	Lower limb pain	4/4	OMIM:131300
6911	TBX6	HP:0002435	Meningocele	HP:0040283	ORPHA:2311
6911	TBX6	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6911	TBX6	HP:0001293	Cranial nerve compression	-	OMIM:131300
6911	TBX6	HP:0001252	Hypotonia	2/7	OMIM:615777
6911	TBX6	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2311
6911	TBX6	HP:0001249	Intellectual disability	5/7	OMIM:615777
6911	TBX6	HP:0001263	Global developmental delay	-	OMIM:615777
6911	TBX6	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:2311
6911	TBX6	HP:0010978	Abnormality of immune system physiology	HP:0040281	ORPHA:2311
6911	TBX6	HP:0002515	Waddling gait	54/102	OMIM:131300
6911	TBX6	HP:0000069	Abnormality of the ureter	HP:0040283	ORPHA:2311
6911	TBX6	HP:0001382	Joint hypermobility	-	OMIM:615777
6911	TBX6	HP:0000047	Hypospadias	HP:0040283	ORPHA:2311
6911	TBX6	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2311
6911	TBX6	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6911	TBX6	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2311
6911	TBX6	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6911	TBX6	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6911	TBX6	HP:0001324	Muscle weakness	40/96	OMIM:131300
6911	TBX6	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6911	TBX6	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:1797
6911	TBX6	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:2311
6911	TBX6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6911	TBX6	HP:0000007	Autosomal recessive inheritance	-	OMIM:122600
6911	TBX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6911	TBX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:122600
6911	TBX6	HP:0002650	Scoliosis	HP:0040281	ORPHA:2311
6911	TBX6	HP:0002650	Scoliosis	12/14	OMIM:131300
6911	TBX6	HP:0002650	Scoliosis	23/23	OMIM:122600
6911	TBX6	HP:0002650	Scoliosis	HP:0040281	ORPHA:1797
6911	TBX6	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6911	TBX6	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6911	TBX6	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6911	TBX6	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6911	TBX6	HP:0000175	Cleft palate	HP:0040283	ORPHA:2311
6911	TBX6	HP:0000175	Cleft palate	2/7	OMIM:615777
6911	TBX6	HP:0000175	Cleft palate	HP:0040283	ORPHA:1797
6911	TBX6	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:2311
6911	TBX6	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:1797
6911	TBX6	HP:0003316	Butterfly vertebrae	5/23	OMIM:122600
6911	TBX6	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2311
6911	TBX6	HP:0003396	Syringomyelia	1/23	OMIM:122600
6911	TBX6	HP:0003388	Easy fatigability	36/76	OMIM:131300
6911	TBX6	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6911	TBX6	HP:0100589	Urogenital fistula	HP:0040283	ORPHA:2311
6911	TBX6	HP:0003422	Vertebral segmentation defect	HP:0040281	ORPHA:1797
6911	TBX6	HP:0003422	Vertebral segmentation defect	HP:0040281	ORPHA:2311
6911	TBX6	HP:0003419	Low back pain	-	OMIM:122600
6911	TBX6	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2311
6911	TBX6	HP:0003577	Congenital onset	23/23	OMIM:122600
6911	TBX6	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:1797
6911	TBX6	HP:0003510	Severe short stature	7/7	OMIM:615777
6911	TBX6	HP:0003510	Severe short stature	-	OMIM:122600
6911	TBX6	HP:0003510	Severe short stature	HP:0040281	ORPHA:1797
6911	TBX6	HP:0003521	Disproportionate short-trunk short stature	3/3	OMIM:122600
6911	TBX6	HP:0002315	Headache	-	OMIM:131300
6911	TBX6	HP:0004976	Knee dislocation	6/7	OMIM:615777
6911	TBX6	HP:0009803	Short phalanx of finger	-	OMIM:615777
6911	TBX6	HP:0010772	Anomalous pulmonary venous return	HP:0040283	ORPHA:2311
6911	TBX6	HP:0009763	Limb pain	63/92	OMIM:131300
6911	TBX6	HP:0003621	Juvenile onset	-	OMIM:131300
6911	TBX6	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6911	TBX6	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6911	TBX6	HP:6001056	Out-toeing	-	OMIM:131300
6911	TBX6	HP:0000651	Diplopia	-	OMIM:131300
6911	TBX6	HP:0001956	Truncal obesity	2/7	OMIM:615777
6911	TBX6	HP:0001903	Anemia	HP:0040283	OMIM:131300
6911	TBX6	HP:0010049	Short metacarpal	-	OMIM:615777
6911	TBX6	HP:0000678	Dental crowding	-	OMIM:615777
6911	TBX6	HP:0000670	Carious teeth	-	OMIM:131300
6911	TBX6	HP:0011304	Broad thumb	2/7	OMIM:615777
6911	TBX6	HP:0000668	Hypodontia	-	OMIM:615777
6911	TBX6	HP:0000664	Synophrys	-	OMIM:615777
6911	TBX6	HP:0004322	Short stature	HP:0040281	ORPHA:2311
6911	TBX6	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2311
6911	TBX6	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:1797
6911	TBX6	HP:0004396	Poor appetite	-	OMIM:131300
6911	TBX6	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6911	TBX6	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6911	TBX6	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6911	TBX6	HP:0003026	Short long bone	7/7	OMIM:615777
6911	TBX6	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6911	TBX6	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:2311
6911	TBX6	HP:0000772	Abnormal rib morphology	HP:0040283	ORPHA:1797
6911	TBX6	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6911	TBX6	HP:0000768	Pectus carinatum	HP:0040283	OMIM:122600
6911	TBX6	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6911	TBX6	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6911	TBX6	HP:0000750	Delayed speech and language development	-	OMIM:615777
6911	TBX6	HP:0011461	Fetal onset	7/7	OMIM:615777
6911	TBX6	HP:0000774	Narrow chest	2/7	OMIM:615777
6911	TBX6	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:2311
6911	TBX6	HP:0000913	Posterior rib fusion	HP:0040283	ORPHA:1797
6911	TBX6	HP:0000913	Posterior rib fusion	-	OMIM:122600
6911	TBX6	HP:0000926	Platyspondyly	1/7	OMIM:615777
6911	TBX6	HP:0000921	Missing ribs	HP:0040283	ORPHA:1797
6911	TBX6	HP:0000921	Missing ribs	15/23	OMIM:122600
6911	TBX6	HP:0003180	Flat acetabular roof	-	OMIM:615777
6911	TBX6	HP:0000902	Rib fusion	HP:0040281	ORPHA:2311
6911	TBX6	HP:0004482	Relative macrocephaly	-	OMIM:615777
6911	TBX6	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6911	TBX6	HP:0000823	Delayed puberty	-	OMIM:131300
6911	TBX6	HP:0000894	Short clavicles	-	OMIM:615777
6911	TBX6	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6911	TBX6	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:1797
6911	TBX6	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:2311
6911	TBX6	HP:0010306	Short thorax	HP:0040282	ORPHA:1797
6911	TBX6	HP:0010306	Short thorax	HP:0040281	ORPHA:2311
6911	TBX6	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6911	TBX6	HP:0005815	Supernumerary ribs	-	OMIM:122600
6911	TBX6	HP:0000286	Epicanthus	1/7	OMIM:615777
6911	TBX6	HP:0000280	Coarse facial features	2/7	OMIM:615777
6911	TBX6	HP:0000256	Macrocephaly	HP:0040283	ORPHA:2311
6911	TBX6	HP:0000256	Macrocephaly	HP:0040283	ORPHA:1797
6911	TBX6	HP:0000269	Prominent occiput	HP:0040282	ORPHA:1797
6911	TBX6	HP:0000269	Prominent occiput	HP:0040283	ORPHA:2311
6911	TBX6	HP:0005108	Abnormal intervertebral disk morphology	HP:0040281	ORPHA:2311
6911	TBX6	HP:0005107	Abnormal sacrum morphology	HP:0040283	ORPHA:1797
6911	TBX6	HP:0002827	Hip dislocation	3/7	OMIM:615777
6911	TBX6	HP:0002808	Kyphosis	HP:0040282	ORPHA:2311
6911	TBX6	HP:0000252	Microcephaly	HP:0040283	ORPHA:2311
6911	TBX6	HP:0000252	Microcephaly	-	OMIM:615777
6911	TBX6	HP:0000252	Microcephaly	HP:0040283	ORPHA:1797
6911	TBX6	HP:0002857	Genu valgum	-	OMIM:131300
6911	TBX6	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2311
6911	TBX6	HP:0001533	Slender build	-	OMIM:131300
6911	TBX6	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2311
6911	TBX6	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6911	TBX6	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:1797
6911	TBX6	HP:0007807	Optic nerve compression	-	OMIM:131300
6911	TBX6	HP:0012368	Flat face	7/7	OMIM:615777
6911	TBX6	HP:0002937	Hemivertebrae	26/26	OMIM:122600
6911	TBX6	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6911	TBX6	HP:0002948	Vertebral fusion	3/3	OMIM:122600
6911	TBX6	HP:0000365	Hearing impairment	10/67	OMIM:131300
6911	TBX6	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:2311
6911	TBX6	HP:0000343	Long philtrum	HP:0040283	ORPHA:2311
6911	TBX6	HP:0000343	Long philtrum	1/7	OMIM:615777
6911	TBX6	HP:0011001	Increased bone mineral density	-	OMIM:131300
6911	TBX6	HP:0000337	Broad forehead	HP:0040283	ORPHA:2311
6911	TBX6	HP:0000311	Round face	2/7	OMIM:615777
6911	TBX6	HP:0002970	Genu varum	-	OMIM:615777
6911	TBX6	HP:0000303	Mandibular prognathia	-	OMIM:131300
6911	TBX6	HP:0006655	Rib segmentation abnormalities	HP:0040281	ORPHA:2311
6911	TBX6	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:2311
6911	TBX6	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6911	TBX6	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2311
6911	TBX6	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1797
6911	TBX6	HP:0000470	Short neck	HP:0040283	OMIM:122600
6911	TBX6	HP:0000470	Short neck	HP:0040281	ORPHA:2311
6911	TBX6	HP:0000470	Short neck	1/7	OMIM:615777
6911	TBX6	HP:0000470	Short neck	HP:0040282	ORPHA:1797
6911	TBX6	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6911	TBX6	HP:0001763	Pes planus	1/7	OMIM:615777
6911	TBX6	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:1797
6911	TBX6	HP:0001840	Metatarsus adductus	-	OMIM:615777
6911	TBX6	HP:0000520	Proptosis	2/4	OMIM:131300
6911	TBX6	HP:0000520	Proptosis	7/7	OMIM:615777
6911	TBX6	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:1797
6911	TBX6	HP:0000592	Blue sclerae	2/7	OMIM:615777
6911	TBX6	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6911	TBX6	HP:0012514	Lower limb pain	4/4	OMIM:131300
6913	TBX15	HP:0001156	Brachydactyly	HP:0040280	ORPHA:93333
6913	TBX15	HP:0009937	Facial hirsutism	-	OMIM:260660
6913	TBX15	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6913	TBX15	HP:0001293	Cranial nerve compression	-	OMIM:131300
6913	TBX15	HP:0001252	Hypotonia	2/7	OMIM:615777
6913	TBX15	HP:0001249	Intellectual disability	5/7	OMIM:615777
6913	TBX15	HP:0001263	Global developmental delay	-	OMIM:615777
6913	TBX15	HP:0001239	Wrist flexion contracture	-	OMIM:260660
6913	TBX15	HP:0006077	Absent proximal finger flexion creases	-	OMIM:260660
6913	TBX15	HP:0002515	Waddling gait	54/102	OMIM:131300
6913	TBX15	HP:0000061	Ambiguous genitalia, female	-	OMIM:260660
6913	TBX15	HP:0001374	Congenital hip dislocation	HP:0040280	ORPHA:93333
6913	TBX15	HP:0001382	Joint hypermobility	-	OMIM:615777
6913	TBX15	HP:0000033	Ambiguous genitalia, male	-	OMIM:260660
6913	TBX15	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6913	TBX15	HP:0002693	Abnormal skull base morphology	HP:0040281	ORPHA:93333
6913	TBX15	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6913	TBX15	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6913	TBX15	HP:0001324	Muscle weakness	40/96	OMIM:131300
6913	TBX15	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6913	TBX15	HP:0000007	Autosomal recessive inheritance	-	OMIM:260660
6913	TBX15	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6913	TBX15	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6913	TBX15	HP:0002650	Scoliosis	12/14	OMIM:131300
6913	TBX15	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6913	TBX15	HP:0003943	Abnormality of the joint spaces of the elbow	HP:0040280	ORPHA:93333
6913	TBX15	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6913	TBX15	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6913	TBX15	HP:0008905	Rhizomelia	-	OMIM:260660
6913	TBX15	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6913	TBX15	HP:0000175	Cleft palate	-	OMIM:260660
6913	TBX15	HP:0000175	Cleft palate	2/7	OMIM:615777
6913	TBX15	HP:0000171	Microglossia	-	OMIM:260660
6913	TBX15	HP:0000126	Hydronephrosis	-	OMIM:260660
6913	TBX15	HP:0004692	4-5 toe syndactyly	-	OMIM:260660
6913	TBX15	HP:0004691	2-3 toe syndactyly	-	OMIM:260660
6913	TBX15	HP:0005989	Redundant neck skin	HP:0040282	ORPHA:93333
6913	TBX15	HP:0002007	Frontal bossing	2/2	OMIM:260660
6913	TBX15	HP:0002007	Frontal bossing	HP:0040282	ORPHA:93333
6913	TBX15	HP:0003388	Easy fatigability	36/76	OMIM:131300
6913	TBX15	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6913	TBX15	HP:0009473	Joint contracture of the hand	-	OMIM:260660
6913	TBX15	HP:0003498	Disproportionate short stature	2/2	OMIM:260660
6913	TBX15	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:93333
6913	TBX15	HP:0003510	Severe short stature	7/7	OMIM:615777
6913	TBX15	HP:0002315	Headache	-	OMIM:131300
6913	TBX15	HP:0004976	Knee dislocation	6/7	OMIM:615777
6913	TBX15	HP:0002324	Hydranencephaly	-	OMIM:260660
6913	TBX15	HP:0004987	Mesomelic leg shortening	HP:0040280	ORPHA:93333
6913	TBX15	HP:0009803	Short phalanx of finger	-	OMIM:615777
6913	TBX15	HP:0008488	Anterior rounding of vertebral bodies	-	OMIM:260660
6913	TBX15	HP:0008472	Prominent protruding coccyx	-	OMIM:260660
6913	TBX15	HP:0009763	Limb pain	63/92	OMIM:131300
6913	TBX15	HP:0003621	Juvenile onset	-	OMIM:131300
6913	TBX15	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6913	TBX15	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:260660
6913	TBX15	HP:0009085	Alveolar ridge overgrowth	-	OMIM:260660
6913	TBX15	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6913	TBX15	HP:6001056	Out-toeing	-	OMIM:131300
6913	TBX15	HP:0000651	Diplopia	-	OMIM:131300
6913	TBX15	HP:0001956	Truncal obesity	2/7	OMIM:615777
6913	TBX15	HP:0001903	Anemia	HP:0040283	OMIM:131300
6913	TBX15	HP:0010049	Short metacarpal	-	OMIM:615777
6913	TBX15	HP:0000678	Dental crowding	-	OMIM:615777
6913	TBX15	HP:0000670	Carious teeth	-	OMIM:131300
6913	TBX15	HP:0011304	Broad thumb	2/7	OMIM:615777
6913	TBX15	HP:0000668	Hypodontia	-	OMIM:615777
6913	TBX15	HP:0000664	Synophrys	-	OMIM:615777
6913	TBX15	HP:0004322	Short stature	HP:0040281	ORPHA:93333
6913	TBX15	HP:0003083	Dislocated radial head	-	OMIM:260660
6913	TBX15	HP:0004396	Poor appetite	-	OMIM:131300
6913	TBX15	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6913	TBX15	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6913	TBX15	HP:0003041	Humeroradial synostosis	2/2	OMIM:260660
6913	TBX15	HP:0003041	Humeroradial synostosis	HP:0040280	ORPHA:93333
6913	TBX15	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6913	TBX15	HP:0003026	Short long bone	7/7	OMIM:615777
6913	TBX15	HP:0003027	Mesomelia	-	OMIM:260660
6913	TBX15	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6913	TBX15	HP:0012745	Short palpebral fissure	-	OMIM:260660
6913	TBX15	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6913	TBX15	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6913	TBX15	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6913	TBX15	HP:0000750	Delayed speech and language development	-	OMIM:615777
6913	TBX15	HP:0011461	Fetal onset	7/7	OMIM:615777
6913	TBX15	HP:0000774	Narrow chest	2/7	OMIM:615777
6913	TBX15	HP:0000926	Platyspondyly	1/7	OMIM:615777
6913	TBX15	HP:0003175	Hypoplastic ischia	-	OMIM:260660
6913	TBX15	HP:0003173	Hypoplastic pubic bone	-	OMIM:260660
6913	TBX15	HP:0003180	Flat acetabular roof	-	OMIM:615777
6913	TBX15	HP:0004482	Relative macrocephaly	-	OMIM:615777
6913	TBX15	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6913	TBX15	HP:0000882	Hypoplastic scapulae	HP:0040280	ORPHA:93333
6913	TBX15	HP:0000882	Hypoplastic scapulae	2/2	OMIM:260660
6913	TBX15	HP:0000890	Long clavicles	-	OMIM:260660
6913	TBX15	HP:0003097	Short femur	HP:0040280	ORPHA:93333
6913	TBX15	HP:0000823	Delayed puberty	-	OMIM:131300
6913	TBX15	HP:0000894	Short clavicles	-	OMIM:615777
6913	TBX15	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6913	TBX15	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6913	TBX15	HP:0045025	Narrow palpebral fissure	2/2	OMIM:260660
6913	TBX15	HP:0000946	Hypoplastic ilia	HP:0040280	ORPHA:93333
6913	TBX15	HP:0000286	Epicanthus	1/7	OMIM:615777
6913	TBX15	HP:0000280	Coarse facial features	2/7	OMIM:615777
6913	TBX15	HP:0000294	Low anterior hairline	2/2	OMIM:260660
6913	TBX15	HP:0001591	Bell-shaped thorax	-	OMIM:260660
6913	TBX15	HP:0000256	Macrocephaly	2/2	OMIM:260660
6913	TBX15	HP:0000256	Macrocephaly	HP:0040280	ORPHA:93333
6913	TBX15	HP:0002827	Hip dislocation	3/7	OMIM:615777
6913	TBX15	HP:0002827	Hip dislocation	2/2	OMIM:260660
6913	TBX15	HP:0000238	Hydrocephalus	-	OMIM:260660
6913	TBX15	HP:0000252	Microcephaly	-	OMIM:615777
6913	TBX15	HP:0002857	Genu valgum	-	OMIM:131300
6913	TBX15	HP:0001533	Slender build	-	OMIM:131300
6913	TBX15	HP:0002866	Hypoplastic iliac wing	2/2	OMIM:260660
6913	TBX15	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6913	TBX15	HP:0007807	Optic nerve compression	-	OMIM:131300
6913	TBX15	HP:0012385	Camptodactyly	-	OMIM:260660
6913	TBX15	HP:0012368	Flat face	7/7	OMIM:615777
6913	TBX15	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:93333
6913	TBX15	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6913	TBX15	HP:0000365	Hearing impairment	2/2	OMIM:260660
6913	TBX15	HP:0000365	Hearing impairment	10/67	OMIM:131300
6913	TBX15	HP:0000365	Hearing impairment	HP:0040282	ORPHA:93333
6913	TBX15	HP:0000358	Posteriorly rotated ears	2/2	OMIM:260660
6913	TBX15	HP:0000369	Low-set ears	2/2	OMIM:260660
6913	TBX15	HP:0000369	Low-set ears	HP:0040281	ORPHA:93333
6913	TBX15	HP:0000343	Long philtrum	1/7	OMIM:615777
6913	TBX15	HP:0011001	Increased bone mineral density	-	OMIM:131300
6913	TBX15	HP:0000347	Micrognathia	-	OMIM:260660
6913	TBX15	HP:0000316	Hypertelorism	2/2	OMIM:260660
6913	TBX15	HP:0000316	Hypertelorism	HP:0040282	ORPHA:93333
6913	TBX15	HP:0000311	Round face	2/7	OMIM:615777
6913	TBX15	HP:0002990	Fibular aplasia	-	OMIM:260660
6913	TBX15	HP:0002987	Elbow flexion contracture	HP:0040280	ORPHA:93333
6913	TBX15	HP:0002970	Genu varum	-	OMIM:615777
6913	TBX15	HP:0000303	Mandibular prognathia	-	OMIM:131300
6913	TBX15	HP:0000402	Stenosis of the external auditory canal	HP:0040282	ORPHA:93333
6913	TBX15	HP:0000402	Stenosis of the external auditory canal	2/2	OMIM:260660
6913	TBX15	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6913	TBX15	HP:0000486	Strabismus	HP:0040282	ORPHA:93333
6913	TBX15	HP:0000482	Microcornea	-	OMIM:260660
6913	TBX15	HP:0000490	Deeply set eye	HP:0040282	ORPHA:93333
6913	TBX15	HP:0000490	Deeply set eye	2/2	OMIM:260660
6913	TBX15	HP:0000470	Short neck	2/2	OMIM:260660
6913	TBX15	HP:0000470	Short neck	1/7	OMIM:615777
6913	TBX15	HP:0000470	Short neck	HP:0040280	ORPHA:93333
6913	TBX15	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6913	TBX15	HP:0001763	Pes planus	1/7	OMIM:615777
6913	TBX15	HP:0001762	Talipes equinovarus	-	OMIM:260660
6913	TBX15	HP:0001840	Metatarsus adductus	-	OMIM:615777
6913	TBX15	HP:0000520	Proptosis	2/4	OMIM:131300
6913	TBX15	HP:0000520	Proptosis	7/7	OMIM:615777
6913	TBX15	HP:0011266	Microtia, first degree	-	OMIM:260660
6913	TBX15	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:93333
6913	TBX15	HP:0000581	Blepharophimosis	-	OMIM:260660
6913	TBX15	HP:0000592	Blue sclerae	2/7	OMIM:615777
6913	TBX15	HP:0000568	Microphthalmia	-	OMIM:260660
6913	TBX15	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6913	TBX15	HP:0012514	Lower limb pain	4/4	OMIM:131300
6915	TBXA2R	HP:0000006	Autosomal dominant inheritance	-	OMIM:614009
6915	TBXA2R	HP:0011894	Impaired thromboxane A2 agonist-induced platelet aggregation	4/4	OMIM:614009
6915	TBXA2R	HP:0011873	Abnormal platelet count	0/1	OMIM:614009
6915	TBXA2R	HP:0011870	Impaired arachidonic acid-induced platelet aggregation	1/1	OMIM:614009
6915	TBXA2R	HP:0003593	Infantile onset	1/1	OMIM:614009
6915	TBXA2R	HP:0000978	Bruising susceptibility	1/1	OMIM:614009
6915	TBXA2R	HP:0031364	Ecchymosis	1/1	OMIM:614009
6915	TBXA2R	HP:0000421	Epistaxis	1/1	OMIM:614009
6916	TBXAS1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6916	TBXAS1	HP:0001293	Cranial nerve compression	-	OMIM:131300
6916	TBXAS1	HP:0001252	Hypotonia	2/7	OMIM:615777
6916	TBXAS1	HP:0001249	Intellectual disability	5/7	OMIM:615777
6916	TBXAS1	HP:0001263	Global developmental delay	-	OMIM:615777
6916	TBXAS1	HP:0010978	Abnormality of immune system physiology	HP:0040281	ORPHA:1802
6916	TBXAS1	HP:0002515	Waddling gait	54/102	OMIM:131300
6916	TBXAS1	HP:0001382	Joint hypermobility	-	OMIM:615777
6916	TBXAS1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6916	TBXAS1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6916	TBXAS1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6916	TBXAS1	HP:0001324	Muscle weakness	40/96	OMIM:131300
6916	TBXAS1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6916	TBXAS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:231095
6916	TBXAS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6916	TBXAS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6916	TBXAS1	HP:0002650	Scoliosis	12/14	OMIM:131300
6916	TBXAS1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6916	TBXAS1	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:1802
6916	TBXAS1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6916	TBXAS1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6916	TBXAS1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6916	TBXAS1	HP:0000175	Cleft palate	2/7	OMIM:615777
6916	TBXAS1	HP:0005019	Diaphyseal undertubulation	HP:0040281	ORPHA:1802
6916	TBXAS1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:1802
6916	TBXAS1	HP:0003388	Easy fatigability	36/76	OMIM:131300
6916	TBXAS1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6916	TBXAS1	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:1802
6916	TBXAS1	HP:0011974	Myelofibrosis	-	OMIM:231095
6916	TBXAS1	HP:0003510	Severe short stature	7/7	OMIM:615777
6916	TBXAS1	HP:0002315	Headache	-	OMIM:131300
6916	TBXAS1	HP:0004976	Knee dislocation	6/7	OMIM:615777
6916	TBXAS1	HP:0009803	Short phalanx of finger	-	OMIM:615777
6916	TBXAS1	HP:0009763	Limb pain	63/92	OMIM:131300
6916	TBXAS1	HP:0003621	Juvenile onset	-	OMIM:131300
6916	TBXAS1	HP:0005528	Bone marrow hypocellularity	-	OMIM:231095
6916	TBXAS1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6916	TBXAS1	HP:0005505	Refractory anemia	-	OMIM:231095
6916	TBXAS1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6916	TBXAS1	HP:6001056	Out-toeing	-	OMIM:131300
6916	TBXAS1	HP:0000651	Diplopia	-	OMIM:131300
6916	TBXAS1	HP:0001956	Truncal obesity	2/7	OMIM:615777
6916	TBXAS1	HP:0001903	Anemia	HP:0040281	ORPHA:1802
6916	TBXAS1	HP:0001903	Anemia	HP:0040283	OMIM:131300
6916	TBXAS1	HP:0010049	Short metacarpal	-	OMIM:615777
6916	TBXAS1	HP:0000678	Dental crowding	-	OMIM:615777
6916	TBXAS1	HP:0000670	Carious teeth	-	OMIM:131300
6916	TBXAS1	HP:0011304	Broad thumb	2/7	OMIM:615777
6916	TBXAS1	HP:0000668	Hypodontia	-	OMIM:615777
6916	TBXAS1	HP:0000664	Synophrys	-	OMIM:615777
6916	TBXAS1	HP:0004396	Poor appetite	-	OMIM:131300
6916	TBXAS1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6916	TBXAS1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6916	TBXAS1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6916	TBXAS1	HP:0003026	Short long bone	7/7	OMIM:615777
6916	TBXAS1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6916	TBXAS1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6916	TBXAS1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6916	TBXAS1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6916	TBXAS1	HP:0000750	Delayed speech and language development	-	OMIM:615777
6916	TBXAS1	HP:0011461	Fetal onset	7/7	OMIM:615777
6916	TBXAS1	HP:0000774	Narrow chest	2/7	OMIM:615777
6916	TBXAS1	HP:0003103	Abnormal cortical bone morphology	HP:0040281	ORPHA:1802
6916	TBXAS1	HP:0000926	Platyspondyly	1/7	OMIM:615777
6916	TBXAS1	HP:0003180	Flat acetabular roof	-	OMIM:615777
6916	TBXAS1	HP:0004482	Relative macrocephaly	-	OMIM:615777
6916	TBXAS1	HP:0004493	Craniofacial hyperostosis	HP:0040281	ORPHA:1802
6916	TBXAS1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6916	TBXAS1	HP:0000823	Delayed puberty	-	OMIM:131300
6916	TBXAS1	HP:0000894	Short clavicles	-	OMIM:615777
6916	TBXAS1	HP:0005890	Hyperostosis cranialis interna	12/20	OMIM:231095
6916	TBXAS1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6916	TBXAS1	HP:0100252	Diaphyseal dysplasia	-	OMIM:231095
6916	TBXAS1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6916	TBXAS1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1802
6916	TBXAS1	HP:0000286	Epicanthus	1/7	OMIM:615777
6916	TBXAS1	HP:0000280	Coarse facial features	2/7	OMIM:615777
6916	TBXAS1	HP:0002827	Hip dislocation	3/7	OMIM:615777
6916	TBXAS1	HP:0002823	Abnormal femur morphology	HP:0040281	ORPHA:1802
6916	TBXAS1	HP:0000252	Microcephaly	-	OMIM:615777
6916	TBXAS1	HP:0002857	Genu valgum	-	OMIM:131300
6916	TBXAS1	HP:0001533	Slender build	-	OMIM:131300
6916	TBXAS1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6916	TBXAS1	HP:0007807	Optic nerve compression	-	OMIM:131300
6916	TBXAS1	HP:0012368	Flat face	7/7	OMIM:615777
6916	TBXAS1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6916	TBXAS1	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:1802
6916	TBXAS1	HP:0000365	Hearing impairment	10/67	OMIM:131300
6916	TBXAS1	HP:0000343	Long philtrum	1/7	OMIM:615777
6916	TBXAS1	HP:0011001	Increased bone mineral density	-	OMIM:231095
6916	TBXAS1	HP:0011001	Increased bone mineral density	-	OMIM:131300
6916	TBXAS1	HP:0000311	Round face	2/7	OMIM:615777
6916	TBXAS1	HP:0002992	Abnormal tibia morphology	HP:0040281	ORPHA:1802
6916	TBXAS1	HP:0002970	Genu varum	-	OMIM:615777
6916	TBXAS1	HP:0000303	Mandibular prognathia	-	OMIM:131300
6916	TBXAS1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6916	TBXAS1	HP:0000470	Short neck	1/7	OMIM:615777
6916	TBXAS1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6916	TBXAS1	HP:0001763	Pes planus	1/7	OMIM:615777
6916	TBXAS1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1802
6916	TBXAS1	HP:0001840	Metatarsus adductus	-	OMIM:615777
6916	TBXAS1	HP:0000520	Proptosis	2/4	OMIM:131300
6916	TBXAS1	HP:0000520	Proptosis	7/7	OMIM:615777
6916	TBXAS1	HP:0000592	Blue sclerae	2/7	OMIM:615777
6916	TBXAS1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6916	TBXAS1	HP:0001882	Decreased total leukocyte count	HP:0040283	OMIM:231095
6916	TBXAS1	HP:0012514	Lower limb pain	4/4	OMIM:131300
6916	TBXAS1	HP:0001873	Thrombocytopenia	-	OMIM:231095
6925	TCF4	HP:0001182	Tapered finger	-	OMIM:610954
6925	TCF4	HP:0001182	Tapered finger	HP:0040281	ORPHA:2896
6925	TCF4	HP:0002472	Small cerebral cortex	HP:0040282	ORPHA:2896
6925	TCF4	HP:0010864	Intellectual disability, severe	4/4	OMIM:610954
6925	TCF4	HP:0003700	Generalized amyotrophy	HP:0040283	ORPHA:171
6925	TCF4	HP:0001298	Encephalopathy	HP:0040284	ORPHA:171
6925	TCF4	HP:0001270	Motor delay	-	OMIM:610954
6925	TCF4	HP:0001250	Seizure	HP:0040282	ORPHA:2896
6925	TCF4	HP:0001250	Seizure	2/6	OMIM:610954
6925	TCF4	HP:0001252	Hypotonia	HP:0040281	ORPHA:2896
6925	TCF4	HP:0001252	Hypotonia	6/6	OMIM:610954
6925	TCF4	HP:0001251	Ataxia	HP:0040281	ORPHA:2896
6925	TCF4	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2896
6925	TCF4	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2896
6925	TCF4	HP:0002558	Supernumerary nipple	HP:0040283	ORPHA:2896
6925	TCF4	HP:0002558	Supernumerary nipple	1/6	OMIM:610954
6925	TCF4	HP:0100869	Palmar telangiectasia	HP:0040282	ORPHA:171
6925	TCF4	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040282	ORPHA:2896
6925	TCF4	HP:0001212	Prominent fingertip pads	2/6	OMIM:610954
6925	TCF4	HP:0001217	Clubbing	1/4	OMIM:610954
6925	TCF4	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:171
6925	TCF4	HP:0001396	Cholestasis	HP:0040281	ORPHA:171
6925	TCF4	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:171
6925	TCF4	HP:0001394	Cirrhosis	HP:0040282	ORPHA:171
6925	TCF4	HP:0012038	Corneal guttata	-	OMIM:613267
6925	TCF4	HP:0012040	Corneal stromal edema	-	OMIM:613267
6925	TCF4	HP:0000054	Micropenis	1/4	OMIM:610954
6925	TCF4	HP:0000054	Micropenis	HP:0040283	ORPHA:2896
6925	TCF4	HP:0025325	Sparse medial eyebrow	4/4	OMIM:610954
6925	TCF4	HP:0000028	Cryptorchidism	1/4	OMIM:610954
6925	TCF4	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2896
6925	TCF4	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:2896
6925	TCF4	HP:0001328	Specific learning disability	HP:0040281	ORPHA:2896
6925	TCF4	HP:0001344	Absent speech	9/10	OMIM:610954
6925	TCF4	HP:0001344	Absent speech	HP:0040282	ORPHA:2896
6925	TCF4	HP:0000006	Autosomal dominant inheritance	-	OMIM:613267
6925	TCF4	HP:0000006	Autosomal dominant inheritance	-	OMIM:610954
6925	TCF4	HP:0002650	Scoliosis	3/10	OMIM:610954
6925	TCF4	HP:0002650	Scoliosis	HP:0040283	ORPHA:2896
6925	TCF4	HP:0002608	Celiac disease	HP:0040283	ORPHA:171
6925	TCF4	HP:0012189	Hodgkin lymphoma	HP:0040284	ORPHA:2896
6925	TCF4	HP:0000194	Open mouth	-	OMIM:610954
6925	TCF4	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:2896
6925	TCF4	HP:0000154	Wide mouth	4/4	OMIM:610954
6925	TCF4	HP:0000154	Wide mouth	HP:0040281	ORPHA:2896
6925	TCF4	HP:0012115	Hepatitis	HP:0040283	ORPHA:171
6925	TCF4	HP:0006352	Failure of eruption of permanent teeth	HP:0040281	ORPHA:2896
6925	TCF4	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:98974
6925	TCF4	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:2896
6925	TCF4	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:171
6925	TCF4	HP:0001409	Portal hypertension	HP:0040282	ORPHA:171
6925	TCF4	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:171
6925	TCF4	HP:0002020	Gastroesophageal reflux	4/4	OMIM:610954
6925	TCF4	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:2896
6925	TCF4	HP:0002019	Constipation	6/10	OMIM:610954
6925	TCF4	HP:0002019	Constipation	HP:0040281	ORPHA:2896
6925	TCF4	HP:0002036	Hiatus hernia	HP:0040281	ORPHA:2896
6925	TCF4	HP:0002027	Abdominal pain	HP:0040283	ORPHA:171
6925	TCF4	HP:0004689	Short fourth metatarsal	1/6	OMIM:610954
6925	TCF4	HP:0002002	Deep philtrum	4/4	OMIM:610954
6925	TCF4	HP:0002066	Gait ataxia	-	OMIM:610954
6925	TCF4	HP:0002066	Gait ataxia	HP:0040282	ORPHA:2896
6925	TCF4	HP:0002079	Hypoplasia of the corpus callosum	3/5	OMIM:610954
6925	TCF4	HP:0100512	Decreased circulating vitamin D concentration	HP:0040283	ORPHA:171
6925	TCF4	HP:0100513	Decreased circulating vitamin E concentration	HP:0040283	ORPHA:171
6925	TCF4	HP:0100575	Neoplasm of the gallbladder	HP:0040284	ORPHA:171
6925	TCF4	HP:0040275	Adenocarcinoma of the large intestine	HP:0040283	ORPHA:171
6925	TCF4	HP:0008151	Prolonged prothrombin time	HP:0040283	ORPHA:171
6925	TCF4	HP:0002119	Ventriculomegaly	1/5	OMIM:610954
6925	TCF4	HP:0003459	Polyclonal elevation of IgM	HP:0040283	ORPHA:171
6925	TCF4	HP:0011892	Decreased circulating vitamin K concentration	HP:0040283	ORPHA:171
6925	TCF4	HP:0010535	Sleep apnea	HP:0040282	ORPHA:2896
6925	TCF4	HP:0010529	Echolalia	HP:0040281	ORPHA:2896
6925	TCF4	HP:0011833	Overhanging nasal tip	HP:0040281	ORPHA:2896
6925	TCF4	HP:0004704	Short fifth metatarsal	2/6	OMIM:610954
6925	TCF4	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:171
6925	TCF4	HP:0002236	Frontal upsweep of hair	1/6	OMIM:610954
6925	TCF4	HP:0003581	Adult onset	-	OMIM:613267
6925	TCF4	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:2896
6925	TCF4	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:2896
6925	TCF4	HP:0100716	Self-injurious behavior	1/6	OMIM:610954
6925	TCF4	HP:0004879	Intermittent hyperventilation	9/10	OMIM:610954
6925	TCF4	HP:0002202	Pleural effusion	HP:0040283	ORPHA:171
6925	TCF4	HP:0100727	Histiocytosis	-	ORPHA:171
6925	TCF4	HP:0010638	Elevated alkaline phosphatase of hepatic origin	HP:0040282	ORPHA:171
6925	TCF4	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:2896
6925	TCF4	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:2896
6925	TCF4	HP:0002381	Aphasia	HP:0040281	ORPHA:2896
6925	TCF4	HP:0001063	Acrocyanosis	HP:0040282	ORPHA:2896
6925	TCF4	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:2896
6925	TCF4	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:2896
6925	TCF4	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:171
6925	TCF4	HP:0100646	Thyroiditis	HP:0040283	ORPHA:171
6925	TCF4	HP:0100626	Chronic hepatic failure	HP:0040283	ORPHA:171
6925	TCF4	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:171
6925	TCF4	HP:0100633	Esophagitis	HP:0040281	ORPHA:2896
6925	TCF4	HP:0200055	Small hand	HP:0040281	ORPHA:2896
6925	TCF4	HP:0200055	Small hand	4/4	OMIM:610954
6925	TCF4	HP:0010743	Short metatarsal	HP:0040281	ORPHA:2896
6925	TCF4	HP:0002300	Mutism	HP:0040281	ORPHA:2896
6925	TCF4	HP:0002311	Incoordination	-	OMIM:610954
6925	TCF4	HP:0003621	Juvenile onset	4/5	OMIM:610954
6925	TCF4	HP:0004905	Reduced circulating vitamin A concentration	HP:0040283	ORPHA:171
6925	TCF4	HP:0004279	Short palm	1/6	OMIM:610954
6925	TCF4	HP:0006887	Intellectual disability, progressive	-	OMIM:610954
6925	TCF4	HP:0001945	Fever	HP:0040282	ORPHA:171
6925	TCF4	HP:0000692	Tooth malposition	HP:0040281	ORPHA:2896
6925	TCF4	HP:0000687	Widely spaced teeth	4/4	OMIM:610954
6925	TCF4	HP:0000662	Nyctalopia	HP:0040282	ORPHA:98974
6925	TCF4	HP:0011300	Broad fingertip	2/6	OMIM:610954
6925	TCF4	HP:0011300	Broad fingertip	HP:0040281	ORPHA:2896
6925	TCF4	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:171
6925	TCF4	HP:0000733	Motor stereotypy	4/4	OMIM:610954
6925	TCF4	HP:0012700	Abnormal large intestine physiology	HP:0040282	ORPHA:171
6925	TCF4	HP:0000716	Depression	HP:0040283	ORPHA:171
6925	TCF4	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:2896
6925	TCF4	HP:0000729	Autistic behavior	HP:0040283	ORPHA:2896
6925	TCF4	HP:0011488	Abnormal corneal endothelium morphology	HP:0040281	ORPHA:98974
6925	TCF4	HP:0011491	Reduced number of corneal endothelial cells	HP:0040281	ORPHA:98974
6925	TCF4	HP:0011490	Abnormal Descemet membrane morphology	HP:0040281	ORPHA:98974
6925	TCF4	HP:0011463	Childhood onset	1/5	OMIM:610954
6925	TCF4	HP:0034250	Fetal nuchal edema	1/4	OMIM:610954
6925	TCF4	HP:0040019	Finger clinodactyly	HP:0040281	ORPHA:2896
6925	TCF4	HP:0040082	Happy demeanor	HP:0040283	ORPHA:2896
6925	TCF4	HP:0030857	Eye movement-induced pain	HP:0040282	ORPHA:98974
6925	TCF4	HP:0100279	Ulcerative colitis	HP:0040282	ORPHA:171
6925	TCF4	HP:0000989	Pruritus	HP:0040283	ORPHA:171
6925	TCF4	HP:0000954	Single transverse palmar crease	-	OMIM:610954
6925	TCF4	HP:0000954	Single transverse palmar crease	HP:0040281	ORPHA:2896
6925	TCF4	HP:0000952	Jaundice	HP:0040283	ORPHA:171
6925	TCF4	HP:0000969	Edema	HP:0040281	ORPHA:98974
6925	TCF4	HP:0000960	Sacral dimple	1/6	OMIM:610954
6925	TCF4	HP:0000939	Osteoporosis	HP:0040283	ORPHA:171
6925	TCF4	HP:0000938	Osteopenia	HP:0040283	ORPHA:171
6925	TCF4	HP:0008081	Pes valgus	HP:0040281	ORPHA:2896
6925	TCF4	HP:0008081	Pes valgus	-	OMIM:610954
6925	TCF4	HP:0000280	Coarse facial features	4/4	OMIM:610954
6925	TCF4	HP:0000280	Coarse facial features	HP:0040281	ORPHA:2896
6925	TCF4	HP:0000293	Full cheeks	HP:0040281	ORPHA:2896
6925	TCF4	HP:0000293	Full cheeks	-	OMIM:610954
6925	TCF4	HP:0030084	Clinodactyly	-	OMIM:610954
6925	TCF4	HP:0000252	Microcephaly	HP:0040281	ORPHA:2896
6925	TCF4	HP:0000252	Microcephaly	4/6	OMIM:610954
6925	TCF4	HP:0002883	Hyperventilation	HP:0040282	ORPHA:2896
6925	TCF4	HP:0025517	Hypoplastic hippocampus	3/5	OMIM:610954
6925	TCF4	HP:0001541	Ascites	HP:0040282	ORPHA:171
6925	TCF4	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2896
6925	TCF4	HP:0001510	Growth delay	HP:0040281	ORPHA:2896
6925	TCF4	HP:0012378	Fatigue	HP:0040283	ORPHA:171
6925	TCF4	HP:0011039	Abnormal helix morphology	HP:0040281	ORPHA:2896
6925	TCF4	HP:0000378	Cupped ear	-	OMIM:610954
6925	TCF4	HP:0000391	Thickened helices	HP:0040281	ORPHA:2896
6925	TCF4	HP:0000391	Thickened helices	4/4	OMIM:610954
6925	TCF4	HP:0011034	Amyloidosis	-	ORPHA:171
6925	TCF4	HP:0006554	Acute hepatic failure	HP:0040284	ORPHA:171
6925	TCF4	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:171
6925	TCF4	HP:0000341	Narrow forehead	-	OMIM:610954
6925	TCF4	HP:0000341	Narrow forehead	HP:0040281	ORPHA:2896
6925	TCF4	HP:0030153	Cholangiocarcinoma	HP:0040283	ORPHA:171
6925	TCF4	HP:0000322	Short philtrum	-	OMIM:610954
6925	TCF4	HP:0000322	Short philtrum	HP:0040281	ORPHA:2896
6925	TCF4	HP:0002960	Autoimmunity	HP:0040281	ORPHA:171
6925	TCF4	HP:0030168	Dilated superficial abdominal veins	HP:0040282	ORPHA:171
6925	TCF4	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:171
6925	TCF4	HP:0007957	Corneal opacity	-	OMIM:613267
6925	TCF4	HP:0007957	Corneal opacity	HP:0040281	ORPHA:98974
6925	TCF4	HP:0001733	Pancreatitis	HP:0040283	ORPHA:171
6925	TCF4	HP:0000483	Astigmatism	HP:0040281	ORPHA:2896
6925	TCF4	HP:0000483	Astigmatism	-	OMIM:610954
6925	TCF4	HP:0000486	Strabismus	6/10	OMIM:610954
6925	TCF4	HP:0000486	Strabismus	HP:0040282	ORPHA:2896
6925	TCF4	HP:0012471	Thick vermilion border	HP:0040281	ORPHA:2896
6925	TCF4	HP:0000490	Deeply set eye	4/4	OMIM:610954
6925	TCF4	HP:0000490	Deeply set eye	HP:0040281	ORPHA:2896
6925	TCF4	HP:0001795	Hyperconvex nail	1/6	OMIM:610954
6925	TCF4	HP:0000463	Anteverted nares	HP:0040281	ORPHA:2896
6925	TCF4	HP:0001786	Narrow foot	1/6	OMIM:610954
6925	TCF4	HP:0001786	Narrow foot	HP:0040282	ORPHA:2896
6925	TCF4	HP:0000454	Flared nostrils	4/4	OMIM:610954
6925	TCF4	HP:0000470	Short neck	-	OMIM:610954
6925	TCF4	HP:0000470	Short neck	HP:0040281	ORPHA:2896
6925	TCF4	HP:0012440	Abnormal biliary tract morphology	HP:0040281	ORPHA:171
6925	TCF4	HP:0001763	Pes planus	4/4	OMIM:610954
6925	TCF4	HP:0001763	Pes planus	HP:0040281	ORPHA:2896
6925	TCF4	HP:0000451	Triangular nasal tip	HP:0040282	ORPHA:2896
6925	TCF4	HP:0001744	Splenomegaly	HP:0040282	ORPHA:171
6925	TCF4	HP:0000431	Wide nasal bridge	-	OMIM:610954
6925	TCF4	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:2896
6925	TCF4	HP:0005484	Secondary microcephaly	4/4	OMIM:610954
6925	TCF4	HP:0005429	Recurrent systemic pyogenic infections	-	ORPHA:171
6925	TCF4	HP:0001845	Overlapping toe	1/6	OMIM:610954
6925	TCF4	HP:0001824	Weight loss	HP:0040282	ORPHA:171
6925	TCF4	HP:0000505	Visual impairment	-	OMIM:613267
6925	TCF4	HP:0000582	Upslanted palpebral fissure	-	OMIM:610954
6925	TCF4	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2896
6925	TCF4	HP:0000554	Uveitis	HP:0040284	ORPHA:171
6925	TCF4	HP:0000572	Visual loss	HP:0040282	ORPHA:98974
6925	TCF4	HP:0012522	Spider hemangioma	HP:0040282	ORPHA:171
6925	TCF4	HP:0001879	Abnormal eosinophil morphology	-	ORPHA:171
6925	TCF4	HP:0000545	Myopia	-	OMIM:610954
6925	TCF4	HP:0000545	Myopia	HP:0040281	ORPHA:2896
6926	TBX3	HP:0001167	Abnormal finger morphology	HP:0040281	ORPHA:3138
6926	TBX3	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:3138
6926	TBX3	HP:0001162	Postaxial hand polydactyly	-	OMIM:181450
6926	TBX3	HP:0009882	Short distal phalanx of finger	HP:0040283	ORPHA:3138
6926	TBX3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6926	TBX3	HP:0001293	Cranial nerve compression	-	OMIM:131300
6926	TBX3	HP:0025259	Stiff elbow	1/3	OMIM:181450
6926	TBX3	HP:0001252	Hypotonia	2/7	OMIM:615777
6926	TBX3	HP:0001249	Intellectual disability	5/7	OMIM:615777
6926	TBX3	HP:0001263	Global developmental delay	-	OMIM:615777
6926	TBX3	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:3138
6926	TBX3	HP:0002557	Hypoplastic nipples	HP:0040282	ORPHA:3138
6926	TBX3	HP:0002557	Hypoplastic nipples	3/3	OMIM:181450
6926	TBX3	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:3138
6926	TBX3	HP:0007397	Axillary apocrine gland hypoplasia	-	OMIM:181450
6926	TBX3	HP:0031095	Abnormal humerus morphology	HP:0040283	ORPHA:3138
6926	TBX3	HP:0002515	Waddling gait	54/102	OMIM:131300
6926	TBX3	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:3138
6926	TBX3	HP:0000046	Small scrotum	1/3	OMIM:181450
6926	TBX3	HP:0000054	Micropenis	2/2	OMIM:181450
6926	TBX3	HP:0001382	Joint hypermobility	-	OMIM:615777
6926	TBX3	HP:0000049	Shawl scrotum	-	OMIM:181450
6926	TBX3	HP:0000023	Inguinal hernia	-	OMIM:181450
6926	TBX3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6926	TBX3	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3138
6926	TBX3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6926	TBX3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6926	TBX3	HP:0001324	Muscle weakness	40/96	OMIM:131300
6926	TBX3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6926	TBX3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6926	TBX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:181450
6926	TBX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6926	TBX3	HP:0002650	Scoliosis	12/14	OMIM:131300
6926	TBX3	HP:0003982	Aplasia of the ulna	1/3	OMIM:181450
6926	TBX3	HP:0003977	Deformed radius	-	OMIM:181450
6926	TBX3	HP:0003974	Absent radius	-	OMIM:181450
6926	TBX3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6926	TBX3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6926	TBX3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6926	TBX3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6926	TBX3	HP:0000175	Cleft palate	2/7	OMIM:615777
6926	TBX3	HP:0000144	Decreased fertility	HP:0040282	ORPHA:3138
6926	TBX3	HP:0000130	Abnormality of the uterus	HP:0040282	ORPHA:3138
6926	TBX3	HP:0002025	Anal stenosis	-	OMIM:181450
6926	TBX3	HP:0002023	Anal atresia	HP:0040283	ORPHA:3138
6926	TBX3	HP:0002023	Anal atresia	-	OMIM:181450
6926	TBX3	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:3138
6926	TBX3	HP:0002021	Pyloric stenosis	-	OMIM:181450
6926	TBX3	HP:0003388	Easy fatigability	36/76	OMIM:131300
6926	TBX3	HP:0009460	Aplasia of the 3rd finger	1/3	OMIM:181450
6926	TBX3	HP:0011755	Ectopic posterior pituitary	-	OMIM:181450
6926	TBX3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6926	TBX3	HP:0005916	Abnormal metacarpal morphology	HP:0040283	ORPHA:3138
6926	TBX3	HP:0011917	Short 5th toe	-	OMIM:181450
6926	TBX3	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:3138
6926	TBX3	HP:0003577	Congenital onset	2/3	OMIM:181450
6926	TBX3	HP:0002221	Absent axillary hair	HP:0040281	ORPHA:3138
6926	TBX3	HP:0002215	Sparse axillary hair	-	OMIM:181450
6926	TBX3	HP:0100783	Breast aplasia	HP:0040283	ORPHA:3138
6926	TBX3	HP:0010627	Anterior pituitary hypoplasia	-	OMIM:181450
6926	TBX3	HP:0003510	Severe short stature	7/7	OMIM:615777
6926	TBX3	HP:0002315	Headache	-	OMIM:131300
6926	TBX3	HP:0004976	Knee dislocation	6/7	OMIM:615777
6926	TBX3	HP:0009803	Short phalanx of finger	-	OMIM:615777
6926	TBX3	HP:0009763	Limb pain	63/92	OMIM:131300
6926	TBX3	HP:0009751	Aplasia of the pectoralis major muscle	HP:0040283	ORPHA:3138
6926	TBX3	HP:0003621	Juvenile onset	-	OMIM:131300
6926	TBX3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6926	TBX3	HP:0004299	Hernia of the abdominal wall	HP:0040283	ORPHA:3138
6926	TBX3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6926	TBX3	HP:6001056	Out-toeing	-	OMIM:131300
6926	TBX3	HP:0000651	Diplopia	-	OMIM:131300
6926	TBX3	HP:0001956	Truncal obesity	2/7	OMIM:615777
6926	TBX3	HP:0001903	Anemia	HP:0040283	OMIM:131300
6926	TBX3	HP:0010049	Short metacarpal	-	OMIM:615777
6926	TBX3	HP:0010046	Aplasia of the 5th metacarpal	1/3	OMIM:181450
6926	TBX3	HP:0010040	Aplasia of the 3rd metacarpal	1/3	OMIM:181450
6926	TBX3	HP:0010043	Aplasia of the 4th metacarpal	1/3	OMIM:181450
6926	TBX3	HP:0000678	Dental crowding	-	OMIM:615777
6926	TBX3	HP:0000670	Carious teeth	-	OMIM:131300
6926	TBX3	HP:0011304	Broad thumb	2/7	OMIM:615777
6926	TBX3	HP:0000668	Hypodontia	HP:0040283	ORPHA:3138
6926	TBX3	HP:0000668	Hypodontia	-	OMIM:615777
6926	TBX3	HP:0000668	Hypodontia	-	OMIM:181450
6926	TBX3	HP:0000664	Synophrys	-	OMIM:615777
6926	TBX3	HP:0004322	Short stature	HP:0040282	ORPHA:3138
6926	TBX3	HP:0004397	Ectopic anus	HP:0040283	ORPHA:3138
6926	TBX3	HP:0004396	Poor appetite	-	OMIM:131300
6926	TBX3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6926	TBX3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6926	TBX3	HP:0004370	Abnormality of temperature regulation	HP:0040281	ORPHA:3138
6926	TBX3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6926	TBX3	HP:0003026	Short long bone	7/7	OMIM:615777
6926	TBX3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6926	TBX3	HP:0003022	Hypoplasia of the ulna	-	OMIM:181450
6926	TBX3	HP:0003019	Abnormality of the wrist	HP:0040282	ORPHA:3138
6926	TBX3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6926	TBX3	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:3138
6926	TBX3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6926	TBX3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6926	TBX3	HP:0000750	Delayed speech and language development	-	OMIM:615777
6926	TBX3	HP:0011462	Young adult onset	1/3	OMIM:181450
6926	TBX3	HP:0011461	Fetal onset	7/7	OMIM:615777
6926	TBX3	HP:0000774	Narrow chest	2/7	OMIM:615777
6926	TBX3	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:3138
6926	TBX3	HP:0000926	Platyspondyly	1/7	OMIM:615777
6926	TBX3	HP:0003187	Breast hypoplasia	1/1	OMIM:181450
6926	TBX3	HP:0003186	Inverted nipples	-	OMIM:181450
6926	TBX3	HP:0003180	Flat acetabular roof	-	OMIM:615777
6926	TBX3	HP:0004482	Relative macrocephaly	-	OMIM:615777
6926	TBX3	HP:0005792	Short humerus	-	OMIM:181450
6926	TBX3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6926	TBX3	HP:0000882	Hypoplastic scapulae	-	OMIM:181450
6926	TBX3	HP:0000889	Abnormal clavicle morphology	HP:0040283	ORPHA:3138
6926	TBX3	HP:0000813	Bicornuate uterus	1/3	OMIM:181450
6926	TBX3	HP:0000823	Delayed puberty	HP:0040282	ORPHA:3138
6926	TBX3	HP:0000823	Delayed puberty	-	OMIM:131300
6926	TBX3	HP:0000823	Delayed puberty	1/3	OMIM:181450
6926	TBX3	HP:0009281	Aplasia of the 4th finger	1/3	OMIM:181450
6926	TBX3	HP:0000894	Short clavicles	-	OMIM:615777
6926	TBX3	HP:0000894	Short clavicles	-	OMIM:181450
6926	TBX3	HP:0009238	Aplasia of the 5th finger	1/3	OMIM:181450
6926	TBX3	HP:0009237	Short 5th finger	2/3	OMIM:181450
6926	TBX3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6926	TBX3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6926	TBX3	HP:0008093	Short 4th toe	-	OMIM:181450
6926	TBX3	HP:0011675	Arrhythmia	HP:0040283	ORPHA:3138
6926	TBX3	HP:0011675	Arrhythmia	-	OMIM:181450
6926	TBX3	HP:0000286	Epicanthus	1/7	OMIM:615777
6926	TBX3	HP:0000280	Coarse facial features	2/7	OMIM:615777
6926	TBX3	HP:0002818	Abnormal morphology of the radius	HP:0040283	ORPHA:3138
6926	TBX3	HP:0002827	Hip dislocation	3/7	OMIM:615777
6926	TBX3	HP:0000252	Microcephaly	-	OMIM:615777
6926	TBX3	HP:0030011	Imperforate hymen	-	OMIM:181450
6926	TBX3	HP:0002857	Genu valgum	-	OMIM:131300
6926	TBX3	HP:0001533	Slender build	-	OMIM:131300
6926	TBX3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6926	TBX3	HP:0001513	Obesity	HP:0040282	ORPHA:3138
6926	TBX3	HP:0001513	Obesity	-	OMIM:181450
6926	TBX3	HP:0007807	Optic nerve compression	-	OMIM:131300
6926	TBX3	HP:0012368	Flat face	7/7	OMIM:615777
6926	TBX3	HP:0001607	Subglottic stenosis	-	OMIM:181450
6926	TBX3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6926	TBX3	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:3138
6926	TBX3	HP:0006495	Aplasia/Hypoplasia of the ulna	HP:0040281	ORPHA:3138
6926	TBX3	HP:0000365	Hearing impairment	10/67	OMIM:131300
6926	TBX3	HP:0000343	Long philtrum	1/7	OMIM:615777
6926	TBX3	HP:0011001	Increased bone mineral density	-	OMIM:131300
6926	TBX3	HP:0000311	Round face	2/7	OMIM:615777
6926	TBX3	HP:0002987	Elbow flexion contracture	1/3	OMIM:181450
6926	TBX3	HP:0002984	Hypoplasia of the radius	-	OMIM:181450
6926	TBX3	HP:0001629	Ventricular septal defect	-	OMIM:181450
6926	TBX3	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:3138
6926	TBX3	HP:0002970	Genu varum	-	OMIM:615777
6926	TBX3	HP:0000303	Mandibular prognathia	-	OMIM:131300
6926	TBX3	HP:0004050	Absent hand	HP:0040283	ORPHA:3138
6926	TBX3	HP:0005338	Sparse lateral eyebrow	-	OMIM:181450
6926	TBX3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6926	TBX3	HP:0000470	Short neck	1/7	OMIM:615777
6926	TBX3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6926	TBX3	HP:0001763	Pes planus	1/7	OMIM:615777
6926	TBX3	HP:0001840	Metatarsus adductus	-	OMIM:615777
6926	TBX3	HP:0000520	Proptosis	2/4	OMIM:131300
6926	TBX3	HP:0000520	Proptosis	7/7	OMIM:615777
6926	TBX3	HP:0001800	Hypoplastic toenails	HP:0040283	ORPHA:3138
6926	TBX3	HP:0000592	Blue sclerae	2/7	OMIM:615777
6926	TBX3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6926	TBX3	HP:0012514	Lower limb pain	4/4	OMIM:131300
6927	HNF1A	HP:0003745	Sporadic	-	OMIM:144700
6927	HNF1A	HP:0001279	Syncope	HP:0040283	ORPHA:324575
6927	HNF1A	HP:0001254	Lethargy	HP:0040283	ORPHA:324575
6927	HNF1A	HP:0002594	Pancreatic hypoplasia	HP:0040284	ORPHA:552
6927	HNF1A	HP:0002591	Polyphagia	HP:0040283	ORPHA:324575
6927	HNF1A	HP:0002591	Polyphagia	-	OMIM:222100
6927	HNF1A	HP:0031084	Excessive insulin response to glucagon test	HP:0040281	ORPHA:324575
6927	HNF1A	HP:0012051	Reactive hypoglycemia	HP:0040282	ORPHA:324575
6927	HNF1A	HP:0000077	Abnormality of the kidney	HP:0040284	ORPHA:552
6927	HNF1A	HP:0012028	Hepatocellular adenoma	HP:0040284	ORPHA:552
6927	HNF1A	HP:0012028	Hepatocellular adenoma	-	OMIM:142330
6927	HNF1A	HP:0001325	Hypoglycemic coma	HP:0040283	ORPHA:324575
6927	HNF1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
6927	HNF1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:142330
6927	HNF1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:600496
6927	HNF1A	HP:0001319	Neonatal hypotonia	HP:0040281	ORPHA:324575
6927	HNF1A	HP:0000147	Polycystic ovaries	-	OMIM:142330
6927	HNF1A	HP:0410050	Decreased level of 1,5 anhydroglucitol in serum	30/30	OMIM:222100
6927	HNF1A	HP:0000119	Abnormality of the genitourinary system	HP:0040284	ORPHA:552
6927	HNF1A	HP:0000112	Nephropathy	HP:0040283	ORPHA:552
6927	HNF1A	HP:0000107	Renal cyst	HP:0040284	ORPHA:552
6927	HNF1A	HP:0000103	Polyuria	-	OMIM:222100
6927	HNF1A	HP:0005978	Type II diabetes mellitus	-	OMIM:600496
6927	HNF1A	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
6927	HNF1A	HP:0040299	Decreased circulating free fatty acid level	HP:0040281	ORPHA:324575
6927	HNF1A	HP:0002173	Hypoglycemic seizures	HP:0040282	ORPHA:324575
6927	HNF1A	HP:0008255	Transient neonatal diabetes mellitus	HP:0040283	ORPHA:552
6927	HNF1A	HP:0003593	Infantile onset	-	OMIM:600496
6927	HNF1A	HP:0002240	Hepatomegaly	HP:0040284	ORPHA:324575
6927	HNF1A	HP:0003584	Late onset	-	OMIM:125853
6927	HNF1A	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:324575
6927	HNF1A	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:324575
6927	HNF1A	HP:0002329	Drowsiness	HP:0040282	ORPHA:324575
6927	HNF1A	HP:0100651	Type I diabetes mellitus	-	OMIM:612520
6927	HNF1A	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:324575
6927	HNF1A	HP:0004924	Abnormal oral glucose tolerance	HP:0040282	ORPHA:552
6927	HNF1A	HP:0007185	Loss of consciousness	HP:0040283	ORPHA:324575
6927	HNF1A	HP:0004904	Maturity-onset diabetes of the young	-	OMIM:600496
6927	HNF1A	HP:0004904	Maturity-onset diabetes of the young	HP:0040282	ORPHA:324575
6927	HNF1A	HP:0004904	Maturity-onset diabetes of the young	-	OMIM:142330
6927	HNF1A	HP:0005584	Renal cell carcinoma	-	OMIM:144700
6927	HNF1A	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
6927	HNF1A	HP:0001962	Palpitations	HP:0040282	ORPHA:324575
6927	HNF1A	HP:0001959	Polydipsia	-	OMIM:222100
6927	HNF1A	HP:0001953	Diabetic ketoacidosis	-	ORPHA:552
6927	HNF1A	HP:0001952	Glucose intolerance	HP:0040282	ORPHA:552
6927	HNF1A	HP:0001993	Ketoacidosis	-	OMIM:222100
6927	HNF1A	HP:0001985	Hypoketotic hypoglycemia	HP:0040282	ORPHA:324575
6927	HNF1A	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:552
6927	HNF1A	HP:0001998	Neonatal hypoglycemia	HP:0040281	ORPHA:324575
6927	HNF1A	HP:0003076	Glycosuria	HP:0040282	ORPHA:552
6927	HNF1A	HP:0003074	Hyperglycemia	-	OMIM:600496
6927	HNF1A	HP:0003074	Hyperglycemia	HP:0040282	ORPHA:552
6927	HNF1A	HP:0003074	Hyperglycemia	-	OMIM:222100
6927	HNF1A	HP:0012734	Ketotic hypoglycemia	HP:0040283	ORPHA:324575
6927	HNF1A	HP:0000713	Agitation	HP:0040282	ORPHA:324575
6927	HNF1A	HP:0012759	Neurodevelopmental abnormality	HP:0040282	ORPHA:324575
6927	HNF1A	HP:0030796	Increased C-peptide level	HP:0040281	ORPHA:324575
6927	HNF1A	HP:0030794	Abnormal circulating C-peptide concentration	HP:0040282	ORPHA:552
6927	HNF1A	HP:0003162	Fasting hypoglycemia	HP:0040282	ORPHA:324575
6927	HNF1A	HP:0000855	Insulin resistance	-	OMIM:125853
6927	HNF1A	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040283	ORPHA:552
6927	HNF1A	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:324575
6927	HNF1A	HP:0000819	Diabetes mellitus	-	OMIM:222100
6927	HNF1A	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040283	ORPHA:552
6927	HNF1A	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040281	ORPHA:324575
6927	HNF1A	HP:0040214	Abnormal circulating insulin concentration	HP:0040282	ORPHA:552
6927	HNF1A	HP:0040217	Elevated hemoglobin A1c	HP:0040282	ORPHA:552
6927	HNF1A	HP:0040216	Hypoinsulinemia	HP:0040282	ORPHA:552
6927	HNF1A	HP:0000980	Pallor	HP:0040282	ORPHA:324575
6927	HNF1A	HP:0000956	Acanthosis nigricans	-	ORPHA:552
6927	HNF1A	HP:0030057	Autoimmune antibody positivity	-	ORPHA:552
6927	HNF1A	HP:0025502	Overweight	HP:0040283	ORPHA:552
6927	HNF1A	HP:0001520	Large for gestational age	HP:0040283	ORPHA:552
6927	HNF1A	HP:0001520	Large for gestational age	HP:0040282	ORPHA:324575
6927	HNF1A	HP:0001518	Small for gestational age	HP:0040283	ORPHA:324575
6927	HNF1A	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:552
6927	HNF1A	HP:0001513	Obesity	HP:0040284	ORPHA:552
6927	HNF1A	HP:0001649	Tachycardia	HP:0040282	ORPHA:324575
6927	HNF1A	HP:0002960	Autoimmunity	-	OMIM:222100
6927	HNF1A	HP:0001738	Exocrine pancreatic insufficiency	HP:0040284	ORPHA:552
6927	HNF1A	HP:0000488	Retinopathy	HP:0040283	ORPHA:552
6928	HNF1B	HP:0002463	Language impairment	HP:0040283	ORPHA:261265
6928	HNF1B	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	OMIM:137920
6928	HNF1B	HP:0003745	Sporadic	-	OMIM:144700
6928	HNF1B	HP:0100800	Aplasia/Hypoplasia of the pancreas	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0100801	Pancreatic aplasia	HP:0040283	ORPHA:261265
6928	HNF1B	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0001250	Seizure	HP:0040283	ORPHA:261265
6928	HNF1B	HP:0001249	Intellectual disability	HP:0040283	ORPHA:261265
6928	HNF1B	HP:0001249	Intellectual disability	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0002594	Pancreatic hypoplasia	5/6	OMIM:137920
6928	HNF1B	HP:0001263	Global developmental delay	HP:0040283	ORPHA:261265
6928	HNF1B	HP:0001263	Global developmental delay	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0008684	Aplasia/hypoplasia of the uterus	HP:0040281	ORPHA:2578
6928	HNF1B	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:261265
6928	HNF1B	HP:0000089	Renal hypoplasia	1/23	OMIM:137920
6928	HNF1B	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:261265
6928	HNF1B	HP:0000083	Renal insufficiency	HP:0040281	ORPHA:93111
6928	HNF1B	HP:0000086	Ectopic kidney	HP:0040281	ORPHA:2578
6928	HNF1B	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0000093	Proteinuria	HP:0040282	OMIM:137920
6928	HNF1B	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0000077	Abnormality of the kidney	78/88	OMIM:137920
6928	HNF1B	HP:0000078	Abnormality of the genital system	2/23	OMIM:137920
6928	HNF1B	HP:0000074	Ureteropelvic junction obstruction	-	OMIM:137920
6928	HNF1B	HP:0000070	Ureterocele	HP:0040283	ORPHA:261265
6928	HNF1B	HP:0001369	Arthritis	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0000047	Hypospadias	-	OMIM:137920
6928	HNF1B	HP:0000047	Hypospadias	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0000049	Shawl scrotum	HP:0040283	ORPHA:261265
6928	HNF1B	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:261265
6928	HNF1B	HP:0000027	Azoospermia	HP:0040281	ORPHA:2578
6928	HNF1B	HP:0012092	Abnormality of exocrine pancreas physiology	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0012093	Abnormality of endocrine pancreas physiology	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0000013	Hypoplasia of the uterus	1/23	OMIM:137920
6928	HNF1B	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:261265
6928	HNF1B	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:93111
6928	HNF1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:137920
6928	HNF1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
6928	HNF1B	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:261265
6928	HNF1B	HP:0000122	Unilateral renal agenesis	1/23	OMIM:137920
6928	HNF1B	HP:0000110	Renal dysplasia	HP:0040281	ORPHA:2578
6928	HNF1B	HP:0000107	Renal cyst	28/46	OMIM:137920
6928	HNF1B	HP:0000104	Renal agenesis	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0000104	Renal agenesis	HP:0040281	ORPHA:2578
6928	HNF1B	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0030997	Atretic vas deferens	-	OMIM:137920
6928	HNF1B	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
6928	HNF1B	HP:6000156	Pancreatic atrophy	9/15	OMIM:137920
6928	HNF1B	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:261265
6928	HNF1B	HP:0040270	Impaired glucose tolerance	-	OMIM:137920
6928	HNF1B	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:1309
6928	HNF1B	HP:0002149	Hyperuricemia	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0002149	Hyperuricemia	HP:0040282	OMIM:137920
6928	HNF1B	HP:0002120	Cerebral cortical atrophy	-	OMIM:137920
6928	HNF1B	HP:0003422	Vertebral segmentation defect	HP:0040282	ORPHA:2578
6928	HNF1B	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:2578
6928	HNF1B	HP:0003584	Late onset	-	OMIM:125853
6928	HNF1B	HP:0009715	Papillary cystadenoma of the epididymis	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0008341	Distal renal tubular acidosis	HP:0040282	ORPHA:1309
6928	HNF1B	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:261265
6928	HNF1B	HP:0100611	Multiple glomerular cysts	4/23	OMIM:137920
6928	HNF1B	HP:0001080	Biliary tract abnormality	-	OMIM:137920
6928	HNF1B	HP:0004904	Maturity-onset diabetes of the young	10/13	OMIM:137920
6928	HNF1B	HP:0005584	Renal cell carcinoma	-	OMIM:144700
6928	HNF1B	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0005563	Decreased numbers of nephrons	-	OMIM:137920
6928	HNF1B	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
6928	HNF1B	HP:0001959	Polydipsia	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0001952	Glucose intolerance	HP:0040282	OMIM:137920
6928	HNF1B	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0001994	Renal Fanconi syndrome	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0001997	Gout	HP:0040282	OMIM:137920
6928	HNF1B	HP:0004322	Short stature	HP:0040282	ORPHA:261265
6928	HNF1B	HP:0004322	Short stature	HP:0040281	ORPHA:2578
6928	HNF1B	HP:0003076	Glycosuria	HP:0040282	OMIM:137920
6928	HNF1B	HP:0004379	Abnormality of alkaline phosphatase level	4/7	OMIM:137920
6928	HNF1B	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:2578
6928	HNF1B	HP:0000717	Autism	HP:0040283	ORPHA:261265
6928	HNF1B	HP:0011462	Young adult onset	-	OMIM:137920
6928	HNF1B	HP:0000790	Hematuria	HP:0040282	ORPHA:1309
6928	HNF1B	HP:0000787	Nephrolithiasis	-	OMIM:137920
6928	HNF1B	HP:0000787	Nephrolithiasis	HP:0040281	ORPHA:1309
6928	HNF1B	HP:0000855	Insulin resistance	-	OMIM:125853
6928	HNF1B	HP:0000819	Diabetes mellitus	HP:0040282	OMIM:137920
6928	HNF1B	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:261265
6928	HNF1B	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:93111
6928	HNF1B	HP:0000813	Bicornuate uterus	1/23	OMIM:137920
6928	HNF1B	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0000813	Bicornuate uterus	HP:0040281	ORPHA:2578
6928	HNF1B	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0012873	Absent vas deferens	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0003259	Elevated circulating creatinine concentration	HP:0040282	OMIM:137920
6928	HNF1B	HP:0000952	Jaundice	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0000239	Large fontanelles	HP:0040283	ORPHA:261265
6928	HNF1B	HP:0012207	Reduced sperm motility	-	OMIM:137920
6928	HNF1B	HP:0012210	Abnormal renal morphology	2/23	OMIM:137920
6928	HNF1B	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:261265
6928	HNF1B	HP:0001528	Hemihypertrophy	HP:0040283	ORPHA:1309
6928	HNF1B	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:137920
6928	HNF1B	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:261265
6928	HNF1B	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2578
6928	HNF1B	HP:0000365	Hearing impairment	HP:0040283	ORPHA:261265
6928	HNF1B	HP:0000365	Hearing impairment	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:93111
6928	HNF1B	HP:0001738	Exocrine pancreatic insufficiency	6/7	OMIM:137920
6928	HNF1B	HP:0000470	Short neck	HP:0040281	ORPHA:2578
6928	HNF1B	HP:0030424	Epididymal cyst	-	OMIM:137920
6929	TCF3	HP:0100806	Sepsis	HP:0040283	ORPHA:33110
6929	TCF3	HP:0001287	Meningitis	HP:0040283	ORPHA:33110
6929	TCF3	HP:0410297	Partial absence of specific antibody response to tetanus vaccine	1/1	OMIM:619824
6929	TCF3	HP:0500266	Decreased CD8+ TEMRA T cell proportion	1/1	OMIM:619824
6929	TCF3	HP:0010976	Decreased total B cell count	4/4	OMIM:616941
6929	TCF3	HP:0010976	Decreased total B cell count	3/3	OMIM:619824
6929	TCF3	HP:0001369	Arthritis	HP:0040282	ORPHA:33110
6929	TCF3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619824
6929	TCF3	HP:0000006	Autosomal dominant inheritance	-	OMIM:616941
6929	TCF3	HP:0012115	Hepatitis	HP:0040283	ORPHA:33110
6929	TCF3	HP:0002754	Osteomyelitis	HP:0040282	ORPHA:33110
6929	TCF3	HP:0002719	Recurrent infections	4/4	OMIM:616941
6929	TCF3	HP:0002719	Recurrent infections	HP:0040281	ORPHA:33110
6929	TCF3	HP:0002719	Recurrent infections	1/2	OMIM:619824
6929	TCF3	HP:0002720	Decreased circulating IgA concentration	3/3	OMIM:619824
6929	TCF3	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:33110
6929	TCF3	HP:0002024	Malabsorption	HP:0040283	ORPHA:33110
6929	TCF3	HP:0002028	Chronic diarrhea	1/1	OMIM:619824
6929	TCF3	HP:0002014	Diarrhea	HP:0040281	ORPHA:33110
6929	TCF3	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:33110
6929	TCF3	HP:0003593	Infantile onset	4/4	OMIM:616941
6929	TCF3	HP:0003593	Infantile onset	1/2	OMIM:619824
6929	TCF3	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:33110
6929	TCF3	HP:0020090	Post-vaccination polio	-	OMIM:616941
6929	TCF3	HP:0004812	B Acute Lymphoblastic Leukemia	1/2	OMIM:619824
6929	TCF3	HP:0100658	Cellulitis	HP:0040283	ORPHA:33110
6929	TCF3	HP:0010803	Everted upper lip vermilion	2/2	OMIM:619824
6929	TCF3	HP:0200043	Verrucae	HP:0040283	ORPHA:33110
6929	TCF3	HP:0001944	Dehydration	HP:0040283	ORPHA:33110
6929	TCF3	HP:0001945	Fever	HP:0040281	ORPHA:33110
6929	TCF3	HP:0001903	Anemia	1/1	OMIM:619824
6929	TCF3	HP:0004315	Decreased circulating IgG concentration	2/3	OMIM:619824
6929	TCF3	HP:0012735	Cough	HP:0040281	ORPHA:33110
6929	TCF3	HP:0011463	Childhood onset	2/3	OMIM:619824
6929	TCF3	HP:0004432	Agammaglobulinemia	4/4	OMIM:616941
6929	TCF3	HP:0004432	Agammaglobulinemia	1/2	OMIM:619824
6929	TCF3	HP:0004432	Agammaglobulinemia	HP:0040281	ORPHA:33110
6929	TCF3	HP:0000988	Skin rash	HP:0040281	ORPHA:33110
6929	TCF3	HP:0000286	Epicanthus	HP:0040283	ORPHA:33110
6929	TCF3	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:33110
6929	TCF3	HP:0000246	Sinusitis	HP:0040281	ORPHA:33110
6929	TCF3	HP:0000218	High palate	HP:0040283	ORPHA:33110
6929	TCF3	HP:0001508	Failure to thrive	1/2	OMIM:619824
6929	TCF3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:33110
6929	TCF3	HP:0002850	Decreased circulating total IgM	3/3	OMIM:619824
6929	TCF3	HP:0012378	Fatigue	HP:0040281	ORPHA:33110
6929	TCF3	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:33110
6929	TCF3	HP:0000396	Overfolded helix	2/2	OMIM:619824
6929	TCF3	HP:0000389	Chronic otitis media	HP:0040281	ORPHA:33110
6929	TCF3	HP:0006532	Recurrent pneumonia	2/3	OMIM:619824
6929	TCF3	HP:0000316	Hypertelorism	2/2	OMIM:619824
6929	TCF3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33110
6929	TCF3	HP:0000322	Short philtrum	2/2	OMIM:619824
6929	TCF3	HP:0410395	Increased effector memory CD8+ T cell proportion	1/1	OMIM:619824
6929	TCF3	HP:0000403	Recurrent otitis media	2/4	OMIM:616941
6929	TCF3	HP:0005280	Depressed nasal bridge	2/2	OMIM:619824
6929	TCF3	HP:0001744	Splenomegaly	1/2	OMIM:619824
6929	TCF3	HP:0005479	Decreased circulating IgE concentration	1/1	OMIM:619824
6929	TCF3	HP:0000509	Conjunctivitis	HP:0040281	ORPHA:33110
6929	TCF3	HP:0011240	Prominent stem of antihelix	2/2	OMIM:619824
6929	TCF3	HP:0001876	Pancytopenia	1/2	OMIM:619824
6929	TCF3	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33110
6934	TCF7L2	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
6934	TCF7L2	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
6934	TCF7L2	HP:0003584	Late onset	-	OMIM:125853
6934	TCF7L2	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
6934	TCF7L2	HP:0000855	Insulin resistance	-	OMIM:125853
6935	ZEB1	HP:0001131	Corneal dystrophy	11/11	OMIM:609141
6935	ZEB1	HP:0001131	Corneal dystrophy	-	OMIM:613270
6935	ZEB1	HP:0009918	Ectopia pupillae	1/1	OMIM:609141
6935	ZEB1	HP:0009918	Ectopia pupillae	HP:0040284	ORPHA:98973
6935	ZEB1	HP:0025358	Uveal ectropion	HP:0040283	ORPHA:98973
6935	ZEB1	HP:0012038	Corneal guttata	-	OMIM:609141
6935	ZEB1	HP:0012038	Corneal guttata	-	OMIM:613270
6935	ZEB1	HP:0012040	Corneal stromal edema	-	OMIM:613270
6935	ZEB1	HP:0012040	Corneal stromal edema	HP:0040283	ORPHA:98973
6935	ZEB1	HP:0000023	Inguinal hernia	11/14	OMIM:609141
6935	ZEB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:609141
6935	ZEB1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:98973
6935	ZEB1	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:98974
6935	ZEB1	HP:0007663	Reduced visual acuity	1/1	OMIM:609141
6935	ZEB1	HP:0007663	Reduced visual acuity	-	OMIM:613270
6935	ZEB1	HP:0003581	Adult onset	1/1	OMIM:609141
6935	ZEB1	HP:0200026	Ocular pain	HP:0040284	ORPHA:98973
6935	ZEB1	HP:0200065	Chorioretinal degeneration	HP:0040284	ORPHA:98973
6935	ZEB1	HP:0032122	Very low visual acuity	HP:0040283	ORPHA:98973
6935	ZEB1	HP:0100692	Increased corneal curvature	HP:0040283	ORPHA:98973
6935	ZEB1	HP:0000632	Lacrimation abnormality	HP:0040284	ORPHA:98973
6935	ZEB1	HP:0000646	Amblyopia	HP:0040283	ORPHA:98973
6935	ZEB1	HP:0000613	Photophobia	HP:0040284	ORPHA:98973
6935	ZEB1	HP:0000622	Blurred vision	HP:0040284	ORPHA:98973
6935	ZEB1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:98974
6935	ZEB1	HP:0011488	Abnormal corneal endothelium morphology	HP:0040281	ORPHA:98974
6935	ZEB1	HP:0011491	Reduced number of corneal endothelial cells	HP:0040281	ORPHA:98973
6935	ZEB1	HP:0011491	Reduced number of corneal endothelial cells	HP:0040281	ORPHA:98974
6935	ZEB1	HP:0011490	Abnormal Descemet membrane morphology	-	OMIM:613270
6935	ZEB1	HP:0011490	Abnormal Descemet membrane morphology	HP:0040281	ORPHA:98973
6935	ZEB1	HP:0011490	Abnormal Descemet membrane morphology	HP:0040281	ORPHA:98974
6935	ZEB1	HP:0011483	Anterior synechiae of the anterior chamber	HP:0040283	ORPHA:98973
6935	ZEB1	HP:0030857	Eye movement-induced pain	HP:0040282	ORPHA:98974
6935	ZEB1	HP:0000969	Edema	HP:0040281	ORPHA:98974
6935	ZEB1	HP:0007957	Corneal opacity	HP:0040284	ORPHA:98973
6935	ZEB1	HP:0007957	Corneal opacity	HP:0040281	ORPHA:98974
6935	ZEB1	HP:0007906	Ocular hypertension	HP:0040284	ORPHA:98973
6935	ZEB1	HP:0000483	Astigmatism	HP:0040283	ORPHA:98973
6935	ZEB1	HP:0000491	Keratitis	-	OMIM:613270
6935	ZEB1	HP:0000501	Glaucoma	HP:0040284	ORPHA:98973
6935	ZEB1	HP:0000563	Keratoconus	1/1	OMIM:609141
6935	ZEB1	HP:0000572	Visual loss	HP:0040282	ORPHA:98974
6935	ZEB1	HP:0000565	Esotropia	HP:0040284	ORPHA:98973
6938	TCF12	HP:0001156	Brachydactyly	HP:0040283	ORPHA:35099
6938	TCF12	HP:0001156	Brachydactyly	4/72	OMIM:615314
6938	TCF12	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:35099
6938	TCF12	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6938	TCF12	HP:0001293	Cranial nerve compression	-	OMIM:131300
6938	TCF12	HP:0001252	Hypotonia	2/7	OMIM:615777
6938	TCF12	HP:0001249	Intellectual disability	HP:0040283	ORPHA:35099
6938	TCF12	HP:0001249	Intellectual disability	1/12	OMIM:619718
6938	TCF12	HP:0001249	Intellectual disability	5/7	OMIM:615777
6938	TCF12	HP:0001263	Global developmental delay	-	OMIM:615777
6938	TCF12	HP:0002515	Waddling gait	54/102	OMIM:131300
6938	TCF12	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:35099
6938	TCF12	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:619718
6938	TCF12	HP:0000054	Micropenis	11/12	OMIM:619718
6938	TCF12	HP:0001382	Joint hypermobility	4/13	OMIM:619718
6938	TCF12	HP:0001382	Joint hypermobility	-	OMIM:615777
6938	TCF12	HP:0000047	Hypospadias	2/12	OMIM:619718
6938	TCF12	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6938	TCF12	HP:0000028	Cryptorchidism	11/12	OMIM:619718
6938	TCF12	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6938	TCF12	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6938	TCF12	HP:0001324	Muscle weakness	40/96	OMIM:131300
6938	TCF12	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6938	TCF12	HP:0001338	Partial agenesis of the corpus callosum	2/72	OMIM:615314
6938	TCF12	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6938	TCF12	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6938	TCF12	HP:0000006	Autosomal dominant inheritance	-	OMIM:619718
6938	TCF12	HP:0000006	Autosomal dominant inheritance	-	OMIM:615314
6938	TCF12	HP:0002650	Scoliosis	1/13	OMIM:619718
6938	TCF12	HP:0002650	Scoliosis	12/14	OMIM:131300
6938	TCF12	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6938	TCF12	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6938	TCF12	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6938	TCF12	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6938	TCF12	HP:0000175	Cleft palate	2/7	OMIM:615777
6938	TCF12	HP:0011800	Midface retrusion	HP:0040283	ORPHA:35099
6938	TCF12	HP:0003388	Easy fatigability	36/76	OMIM:131300
6938	TCF12	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6938	TCF12	HP:0010522	Dyslexia	1/12	OMIM:619718
6938	TCF12	HP:0003577	Congenital onset	-	OMIM:619718
6938	TCF12	HP:0009701	Metacarpal synostosis	HP:0040283	ORPHA:35099
6938	TCF12	HP:0003510	Severe short stature	7/7	OMIM:615777
6938	TCF12	HP:0002315	Headache	-	OMIM:131300
6938	TCF12	HP:0004976	Knee dislocation	6/7	OMIM:615777
6938	TCF12	HP:0009803	Short phalanx of finger	-	OMIM:615777
6938	TCF12	HP:0009763	Limb pain	63/92	OMIM:131300
6938	TCF12	HP:0003621	Juvenile onset	-	OMIM:131300
6938	TCF12	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6938	TCF12	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6938	TCF12	HP:6001056	Out-toeing	-	OMIM:131300
6938	TCF12	HP:0000651	Diplopia	-	OMIM:131300
6938	TCF12	HP:0001956	Truncal obesity	2/7	OMIM:615777
6938	TCF12	HP:0001903	Anemia	HP:0040283	OMIM:131300
6938	TCF12	HP:0010049	Short metacarpal	-	OMIM:615777
6938	TCF12	HP:0000699	Diastema	3/13	OMIM:619718
6938	TCF12	HP:0011342	Mild global developmental delay	2/72	OMIM:615314
6938	TCF12	HP:0000678	Dental crowding	-	OMIM:615777
6938	TCF12	HP:0000691	Microdontia	1/13	OMIM:619718
6938	TCF12	HP:0011326	Anterior plagiocephaly	1/14	OMIM:619718
6938	TCF12	HP:0000689	Dental malocclusion	7/72	OMIM:615314
6938	TCF12	HP:0011318	Bicoronal synostosis	25/72	OMIM:615314
6938	TCF12	HP:0011318	Bicoronal synostosis	1/14	OMIM:619718
6938	TCF12	HP:0011317	Right unicoronal synostosis	18/72	OMIM:615314
6938	TCF12	HP:0011316	Left unicoronal synostosis	5/72	OMIM:615314
6938	TCF12	HP:0000670	Carious teeth	-	OMIM:131300
6938	TCF12	HP:0011304	Broad thumb	2/7	OMIM:615777
6938	TCF12	HP:0000668	Hypodontia	-	OMIM:615777
6938	TCF12	HP:0000664	Synophrys	-	OMIM:615777
6938	TCF12	HP:0004396	Poor appetite	-	OMIM:131300
6938	TCF12	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6938	TCF12	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6938	TCF12	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6938	TCF12	HP:0003026	Short long bone	7/7	OMIM:615777
6938	TCF12	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6938	TCF12	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6938	TCF12	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6938	TCF12	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6938	TCF12	HP:0000739	Anxiety	1/12	OMIM:619718
6938	TCF12	HP:0000750	Delayed speech and language development	-	OMIM:615777
6938	TCF12	HP:0000717	Autism	2/72	OMIM:615314
6938	TCF12	HP:0000729	Autistic behavior	3/12	OMIM:619718
6938	TCF12	HP:0011461	Fetal onset	7/7	OMIM:615777
6938	TCF12	HP:0000774	Narrow chest	2/7	OMIM:615777
6938	TCF12	HP:0004442	Sagittal craniosynostosis	4/72	OMIM:615314
6938	TCF12	HP:0000926	Platyspondyly	1/7	OMIM:615777
6938	TCF12	HP:0003180	Flat acetabular roof	-	OMIM:615777
6938	TCF12	HP:0004482	Relative macrocephaly	-	OMIM:615777
6938	TCF12	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6938	TCF12	HP:0000823	Delayed puberty	-	OMIM:619718
6938	TCF12	HP:0000823	Delayed puberty	-	OMIM:131300
6938	TCF12	HP:0000894	Short clavicles	-	OMIM:615777
6938	TCF12	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6938	TCF12	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6938	TCF12	HP:0000954	Single transverse palmar crease	8/72	OMIM:615314
6938	TCF12	HP:0000939	Osteoporosis	2/13	OMIM:619718
6938	TCF12	HP:0000938	Osteopenia	1/13	OMIM:619718
6938	TCF12	HP:0000286	Epicanthus	1/7	OMIM:615777
6938	TCF12	HP:0000280	Coarse facial features	2/7	OMIM:615777
6938	TCF12	HP:0000294	Low anterior hairline	9/72	OMIM:615314
6938	TCF12	HP:0002827	Hip dislocation	3/7	OMIM:615777
6938	TCF12	HP:0002808	Kyphosis	1/13	OMIM:619718
6938	TCF12	HP:0000252	Microcephaly	-	OMIM:615777
6938	TCF12	HP:0000248	Brachycephaly	HP:0040281	ORPHA:35099
6938	TCF12	HP:0002857	Genu valgum	-	OMIM:131300
6938	TCF12	HP:0001533	Slender build	-	OMIM:131300
6938	TCF12	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6938	TCF12	HP:0007807	Optic nerve compression	-	OMIM:131300
6938	TCF12	HP:0011069	Supernumerary tooth	1/13	OMIM:619718
6938	TCF12	HP:0011054	Agenesis of molar	1/13	OMIM:619718
6938	TCF12	HP:0012368	Flat face	7/7	OMIM:615777
6938	TCF12	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6938	TCF12	HP:0000365	Hearing impairment	10/67	OMIM:131300
6938	TCF12	HP:0000365	Hearing impairment	HP:0040282	ORPHA:35099
6938	TCF12	HP:0000343	Long philtrum	1/7	OMIM:615777
6938	TCF12	HP:0011001	Increased bone mineral density	-	OMIM:131300
6938	TCF12	HP:0000337	Broad forehead	HP:0040281	ORPHA:35099
6938	TCF12	HP:0000316	Hypertelorism	HP:0040283	ORPHA:35099
6938	TCF12	HP:0000311	Round face	2/7	OMIM:615777
6938	TCF12	HP:0002970	Genu varum	-	OMIM:615777
6938	TCF12	HP:0000303	Mandibular prognathia	-	OMIM:131300
6938	TCF12	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6938	TCF12	HP:0000486	Strabismus	11/72	OMIM:615314
6938	TCF12	HP:0000458	Anosmia	12/12	OMIM:619718
6938	TCF12	HP:0000470	Short neck	1/7	OMIM:615777
6938	TCF12	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6938	TCF12	HP:0001763	Pes planus	1/7	OMIM:615777
6938	TCF12	HP:0001840	Metatarsus adductus	-	OMIM:615777
6938	TCF12	HP:0000520	Proptosis	2/4	OMIM:131300
6938	TCF12	HP:0000520	Proptosis	HP:0040282	ORPHA:35099
6938	TCF12	HP:0000520	Proptosis	7/7	OMIM:615777
6938	TCF12	HP:0001822	Hallux valgus	7/72	OMIM:615314
6938	TCF12	HP:0000508	Ptosis	3/72	OMIM:615314
6938	TCF12	HP:0000592	Blue sclerae	2/7	OMIM:615777
6938	TCF12	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6938	TCF12	HP:0012514	Lower limb pain	4/4	OMIM:131300
6942	TCF20	HP:0001182	Tapered finger	-	OMIM:618430
6942	TCF20	HP:0001270	Motor delay	2/2	OMIM:618430
6942	TCF20	HP:0001256	Intellectual disability, mild	2/2	OMIM:618430
6942	TCF20	HP:0001250	Seizure	1/2	OMIM:618430
6942	TCF20	HP:0001252	Hypotonia	2/2	OMIM:618430
6942	TCF20	HP:0001251	Ataxia	1/2	OMIM:618430
6942	TCF20	HP:0001263	Global developmental delay	-	OMIM:618430
6942	TCF20	HP:0001257	Spasticity	-	OMIM:618430
6942	TCF20	HP:0000098	Tall stature	2/2	OMIM:618430
6942	TCF20	HP:0001357	Plagiocephaly	-	OMIM:618430
6942	TCF20	HP:0000006	Autosomal dominant inheritance	-	OMIM:618430
6942	TCF20	HP:0002650	Scoliosis	1/2	OMIM:618430
6942	TCF20	HP:0000194	Open mouth	-	OMIM:618430
6942	TCF20	HP:0002714	Downturned corners of mouth	-	OMIM:618430
6942	TCF20	HP:0002019	Constipation	-	OMIM:618430
6942	TCF20	HP:0002007	Frontal bossing	-	OMIM:618430
6942	TCF20	HP:0011800	Midface retrusion	-	OMIM:618430
6942	TCF20	HP:0003593	Infantile onset	2/2	OMIM:618430
6942	TCF20	HP:0011968	Feeding difficulties	-	OMIM:618430
6942	TCF20	HP:0002360	Sleep abnormality	-	OMIM:618430
6942	TCF20	HP:0002370	Poor coordination	-	OMIM:618430
6942	TCF20	HP:0010804	Tented upper lip vermilion	-	OMIM:618430
6942	TCF20	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:618430
6942	TCF20	HP:0005616	Accelerated skeletal maturation	1/1	OMIM:618430
6942	TCF20	HP:0031936	Delayed ability to walk	2/2	OMIM:618430
6942	TCF20	HP:0000752	Hyperactivity	-	OMIM:618430
6942	TCF20	HP:0000771	Gynecomastia	1/2	OMIM:618430
6942	TCF20	HP:0000739	Anxiety	-	OMIM:618430
6942	TCF20	HP:0000733	Motor stereotypy	1/2	OMIM:618430
6942	TCF20	HP:0000750	Delayed speech and language development	2/2	OMIM:618430
6942	TCF20	HP:0000718	Aggressive behavior	1/2	OMIM:618430
6942	TCF20	HP:0000729	Autistic behavior	1/2	OMIM:618430
6942	TCF20	HP:0000722	Compulsive behaviors	-	OMIM:618430
6942	TCF20	HP:0003196	Short nose	-	OMIM:618430
6942	TCF20	HP:0003186	Inverted nipples	2/2	OMIM:618430
6942	TCF20	HP:0000286	Epicanthus	-	OMIM:618430
6942	TCF20	HP:0000256	Macrocephaly	2/2	OMIM:618430
6942	TCF20	HP:0000276	Long face	-	OMIM:618430
6942	TCF20	HP:0000248	Brachycephaly	-	OMIM:618430
6942	TCF20	HP:0000219	Thin upper lip vermilion	-	OMIM:618430
6942	TCF20	HP:0001513	Obesity	HP:0040284	OMIM:618430
6942	TCF20	HP:0000358	Posteriorly rotated ears	-	OMIM:618430
6942	TCF20	HP:0000369	Low-set ears	-	OMIM:618430
6942	TCF20	HP:0000348	High forehead	-	OMIM:618430
6942	TCF20	HP:0005280	Depressed nasal bridge	-	OMIM:618430
6942	TCF20	HP:0000486	Strabismus	-	OMIM:618430
6942	TCF20	HP:0000490	Deeply set eye	-	OMIM:618430
6942	TCF20	HP:0000414	Bulbous nose	-	OMIM:618430
6942	TCF20	HP:0001852	Sandal gap	1/2	OMIM:618430
6942	TCF20	HP:0000545	Myopia	-	OMIM:618430
6945	MLX	HP:0001297	Stroke	HP:0040283	ORPHA:3287
6945	MLX	HP:0001250	Seizure	HP:0040282	ORPHA:3287
6945	MLX	HP:0001369	Arthritis	HP:0040282	ORPHA:3287
6945	MLX	HP:0033834	Malaise	HP:0040283	ORPHA:3287
6945	MLX	HP:0012089	Arteritis	HP:0040281	ORPHA:3287
6945	MLX	HP:0001324	Muscle weakness	HP:0040282	ORPHA:3287
6945	MLX	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:3287
6945	MLX	HP:0002633	Vasculitis	HP:0040281	ORPHA:3287
6945	MLX	HP:0002617	Vascular dilatation	HP:0040281	ORPHA:3287
6945	MLX	HP:0032554	Absent pulse	HP:0040282	ORPHA:3287
6945	MLX	HP:6000944	Carotidynia	HP:0040282	ORPHA:3287
6945	MLX	HP:6000945	Asymmetric blood pressure between arms	HP:0040282	ORPHA:3287
6945	MLX	HP:0003326	Myalgia	HP:0040282	ORPHA:3287
6945	MLX	HP:0100545	Arterial stenosis	HP:0040281	ORPHA:3287
6945	MLX	HP:0002094	Dyspnea	HP:0040283	ORPHA:3287
6945	MLX	HP:0002092	Pulmonary arterial hypertension	HP:0040282	ORPHA:3287
6945	MLX	HP:0002076	Migraine	HP:0040282	ORPHA:3287
6945	MLX	HP:0002039	Anorexia	HP:0040282	ORPHA:3287
6945	MLX	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:3287
6945	MLX	HP:0002105	Hemoptysis	HP:0040283	ORPHA:3287
6945	MLX	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:3287
6945	MLX	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:3287
6945	MLX	HP:0100735	Hypertensive crisis	HP:0040281	ORPHA:3287
6945	MLX	HP:0100749	Chest pain	HP:0040282	ORPHA:3287
6945	MLX	HP:0100758	Gangrene	HP:0040282	ORPHA:3287
6945	MLX	HP:0002321	Vertigo	HP:0040283	ORPHA:3287
6945	MLX	HP:0002315	Headache	HP:0040282	ORPHA:3287
6945	MLX	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:3287
6945	MLX	HP:0200042	Skin ulcer	HP:0040282	ORPHA:3287
6945	MLX	HP:0004970	Ascending tubular aorta aneurysm	HP:0040282	ORPHA:3287
6945	MLX	HP:0020141	Blood pressure substantially higher in legs than arms	HP:0040282	ORPHA:3287
6945	MLX	HP:0001945	Fever	HP:0040281	ORPHA:3287
6945	MLX	HP:0001920	Renal artery stenosis	HP:0040282	ORPHA:3287
6945	MLX	HP:0001903	Anemia	HP:0040282	ORPHA:3287
6945	MLX	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:3287
6945	MLX	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:3287
6945	MLX	HP:0004372	Reduced consciousness	HP:0040283	ORPHA:3287
6945	MLX	HP:0004417	Intermittent claudication	HP:0040282	ORPHA:3287
6945	MLX	HP:0000822	Hypertension	HP:0040282	ORPHA:3287
6945	MLX	HP:0002829	Arthralgia	HP:0040283	ORPHA:3287
6945	MLX	HP:0012219	Erythema nodosum	HP:0040283	ORPHA:3287
6945	MLX	HP:0012378	Fatigue	HP:0040281	ORPHA:3287
6945	MLX	HP:0005244	Gastrointestinal infarctions	HP:0040283	ORPHA:3287
6945	MLX	HP:0001646	Abnormal aortic valve morphology	HP:0040282	ORPHA:3287
6945	MLX	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:3287
6945	MLX	HP:0001658	Myocardial infarction	HP:0040282	ORPHA:3287
6945	MLX	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:3287
6945	MLX	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:3287
6945	MLX	HP:0030166	Night sweats	HP:0040283	ORPHA:3287
6945	MLX	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:3287
6945	MLX	HP:0000488	Retinopathy	HP:0040283	ORPHA:3287
6945	MLX	HP:0001824	Weight loss	HP:0040281	ORPHA:3287
6945	MLX	HP:0000505	Visual impairment	HP:0040283	ORPHA:3287
6945	MLX	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040283	ORPHA:3287
6948	TCN2	HP:0001254	Lethargy	-	OMIM:275350
6948	TCN2	HP:0001252	Hypotonia	2/4	OMIM:275350
6948	TCN2	HP:0001251	Ataxia	-	OMIM:275350
6948	TCN2	HP:0001249	Intellectual disability	-	OMIM:275350
6948	TCN2	HP:0001324	Muscle weakness	-	OMIM:275350
6948	TCN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:275350
6948	TCN2	HP:0012133	Erythroid hypoplasia	1/1	OMIM:275350
6948	TCN2	HP:0012120	Methylmalonic aciduria	4/4	OMIM:275350
6948	TCN2	HP:0012120	Methylmalonic aciduria	HP:0040281	ORPHA:859
6948	TCN2	HP:0002720	Decreased circulating IgA concentration	-	OMIM:275350
6948	TCN2	HP:0002720	Decreased circulating IgA concentration	HP:0040282	ORPHA:859
6948	TCN2	HP:0002014	Diarrhea	1/3	OMIM:275350
6948	TCN2	HP:0002013	Vomiting	2/3	OMIM:275350
6948	TCN2	HP:0002160	Hyperhomocystinemia	1/3	OMIM:275350
6948	TCN2	HP:0003593	Infantile onset	3/4	OMIM:275350
6948	TCN2	HP:0002240	Hepatomegaly	1/1	OMIM:275350
6948	TCN2	HP:0003623	Neonatal onset	1/3	OMIM:275350
6948	TCN2	HP:0001980	Megaloblastic bone marrow	1/1	OMIM:275350
6948	TCN2	HP:0001980	Megaloblastic bone marrow	HP:0040281	ORPHA:859
6948	TCN2	HP:0001972	Macrocytic anemia	1/1	OMIM:275350
6948	TCN2	HP:0001903	Anemia	1/3	OMIM:275350
6948	TCN2	HP:0001919	Acute kidney injury	HP:0040281	ORPHA:859
6948	TCN2	HP:0004315	Decreased circulating IgG concentration	-	OMIM:275350
6948	TCN2	HP:0004315	Decreased circulating IgG concentration	HP:0040282	ORPHA:859
6948	TCN2	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040282	ORPHA:859
6948	TCN2	HP:0000737	Irritability	1/1	OMIM:275350
6948	TCN2	HP:0040126	Abnormal circulating vitamin B12 concentration	0/2	OMIM:275350
6948	TCN2	HP:0040087	Abnormal blood folate concentration	0/1	OMIM:275350
6948	TCN2	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:859
6948	TCN2	HP:0001508	Failure to thrive	4/4	OMIM:275350
6948	TCN2	HP:0002850	Decreased circulating total IgM	-	OMIM:275350
6948	TCN2	HP:0002850	Decreased circulating total IgM	HP:0040282	ORPHA:859
6948	TCN2	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:859
6948	TCN2	HP:0001896	Reticulocytopenia	-	OMIM:275350
6948	TCN2	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:859
6948	TCN2	HP:0001876	Pancytopenia	2/3	OMIM:275350
6948	TCN2	HP:0001876	Pancytopenia	HP:0040282	ORPHA:859
6948	TCN2	HP:0001875	Decreased total neutrophil count	-	OMIM:275350
6948	TCN2	HP:0001875	Decreased total neutrophil count	HP:0040282	ORPHA:859
6949	TCOF1	HP:0008551	Microtia	51/72	OMIM:154500
6949	TCOF1	HP:0008551	Microtia	HP:0040282	ORPHA:861
6949	TCOF1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
6949	TCOF1	HP:0001293	Cranial nerve compression	-	OMIM:131300
6949	TCOF1	HP:6000612	Squamosal suture synostosis	1/4	OMIM:154500
6949	TCOF1	HP:0001252	Hypotonia	2/7	OMIM:615777
6949	TCOF1	HP:0001249	Intellectual disability	1/53	OMIM:154500
6949	TCOF1	HP:0001249	Intellectual disability	5/7	OMIM:615777
6949	TCOF1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:861
6949	TCOF1	HP:0001263	Global developmental delay	-	OMIM:615777
6949	TCOF1	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:861
6949	TCOF1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:861
6949	TCOF1	HP:0002515	Waddling gait	54/102	OMIM:131300
6949	TCOF1	HP:0000046	Small scrotum	HP:0040283	ORPHA:861
6949	TCOF1	HP:0001382	Joint hypermobility	-	OMIM:615777
6949	TCOF1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
6949	TCOF1	HP:0000028	Cryptorchidism	-	OMIM:154500
6949	TCOF1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:861
6949	TCOF1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
6949	TCOF1	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:861
6949	TCOF1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
6949	TCOF1	HP:0001324	Muscle weakness	40/96	OMIM:131300
6949	TCOF1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
6949	TCOF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
6949	TCOF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:154500
6949	TCOF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
6949	TCOF1	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:861
6949	TCOF1	HP:0002650	Scoliosis	12/14	OMIM:131300
6949	TCOF1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
6949	TCOF1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
6949	TCOF1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
6949	TCOF1	HP:0000185	Cleft soft palate	-	OMIM:154500
6949	TCOF1	HP:0000197	Abnormal parotid gland morphology	-	OMIM:154500
6949	TCOF1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
6949	TCOF1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:861
6949	TCOF1	HP:0000160	Narrow mouth	-	OMIM:154500
6949	TCOF1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:861
6949	TCOF1	HP:0000162	Glossoptosis	HP:0040283	ORPHA:861
6949	TCOF1	HP:0000175	Cleft palate	HP:0040283	ORPHA:861
6949	TCOF1	HP:0000175	Cleft palate	17/68	OMIM:154500
6949	TCOF1	HP:0000175	Cleft palate	2/7	OMIM:615777
6949	TCOF1	HP:0000143	Rectovaginal fistula	HP:0040283	ORPHA:861
6949	TCOF1	HP:0000154	Wide mouth	-	OMIM:154500
6949	TCOF1	HP:0000154	Wide mouth	HP:0040283	ORPHA:861
6949	TCOF1	HP:0007678	Lacrimal duct stenosis	-	OMIM:154500
6949	TCOF1	HP:0007633	Bilateral microphthalmos	-	OMIM:154500
6949	TCOF1	HP:0005990	Thyroid hypoplasia	HP:0040283	ORPHA:861
6949	TCOF1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:861
6949	TCOF1	HP:0002006	Tessier cleft	HP:0040283	ORPHA:861
6949	TCOF1	HP:0011800	Midface retrusion	HP:0040281	ORPHA:861
6949	TCOF1	HP:0002084	Encephalocele	HP:0040283	ORPHA:861
6949	TCOF1	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:861
6949	TCOF1	HP:0003388	Easy fatigability	36/76	OMIM:131300
6949	TCOF1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
6949	TCOF1	HP:0009555	Hypoplasia of the pharynx	-	OMIM:154500
6949	TCOF1	HP:0009554	Preauricular hair displacement	HP:0040283	ORPHA:861
6949	TCOF1	HP:0009554	Preauricular hair displacement	24/49	OMIM:154500
6949	TCOF1	HP:0003577	Congenital onset	14/14	OMIM:154500
6949	TCOF1	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040281	ORPHA:861
6949	TCOF1	HP:0003510	Severe short stature	7/7	OMIM:615777
6949	TCOF1	HP:0002381	Aphasia	HP:0040283	ORPHA:861
6949	TCOF1	HP:0002315	Headache	-	OMIM:131300
6949	TCOF1	HP:0004976	Knee dislocation	6/7	OMIM:615777
6949	TCOF1	HP:0010807	Open bite	HP:0040281	ORPHA:861
6949	TCOF1	HP:0009804	Tooth agenesis	HP:0040282	ORPHA:861
6949	TCOF1	HP:0009803	Short phalanx of finger	-	OMIM:615777
6949	TCOF1	HP:0009795	Branchial fistula	HP:0040283	ORPHA:861
6949	TCOF1	HP:0009763	Limb pain	63/92	OMIM:131300
6949	TCOF1	HP:0003621	Juvenile onset	-	OMIM:131300
6949	TCOF1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
6949	TCOF1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
6949	TCOF1	HP:0000636	Upper eyelid coloboma	43/66	OMIM:154500
6949	TCOF1	HP:6001056	Out-toeing	-	OMIM:131300
6949	TCOF1	HP:0000651	Diplopia	-	OMIM:131300
6949	TCOF1	HP:0000643	Blepharospasm	HP:0040283	ORPHA:861
6949	TCOF1	HP:0000612	Iris coloboma	HP:0040282	ORPHA:861
6949	TCOF1	HP:0000625	Eyelid coloboma	HP:0040282	ORPHA:861
6949	TCOF1	HP:0001956	Truncal obesity	2/7	OMIM:615777
6949	TCOF1	HP:0001903	Anemia	HP:0040283	OMIM:131300
6949	TCOF1	HP:0010049	Short metacarpal	-	OMIM:615777
6949	TCOF1	HP:0011386	Narrow internal auditory canal	HP:0040282	ORPHA:861
6949	TCOF1	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:861
6949	TCOF1	HP:0000678	Dental crowding	-	OMIM:615777
6949	TCOF1	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:861
6949	TCOF1	HP:0000652	Lower eyelid coloboma	4/4	OMIM:154500
6949	TCOF1	HP:0000670	Carious teeth	-	OMIM:131300
6949	TCOF1	HP:0011304	Broad thumb	2/7	OMIM:615777
6949	TCOF1	HP:0000668	Hypodontia	-	OMIM:615777
6949	TCOF1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:861
6949	TCOF1	HP:0000664	Synophrys	-	OMIM:615777
6949	TCOF1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:861
6949	TCOF1	HP:0004396	Poor appetite	-	OMIM:131300
6949	TCOF1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
6949	TCOF1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
6949	TCOF1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
6949	TCOF1	HP:0003026	Short long bone	7/7	OMIM:615777
6949	TCOF1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
6949	TCOF1	HP:0004348	Abnormality of bone mineral density	HP:0040281	ORPHA:861
6949	TCOF1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
6949	TCOF1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
6949	TCOF1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
6949	TCOF1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:861
6949	TCOF1	HP:0000750	Delayed speech and language development	-	OMIM:615777
6949	TCOF1	HP:0011481	Abnormal lacrimal duct morphology	HP:0040283	ORPHA:861
6949	TCOF1	HP:0011461	Fetal onset	7/7	OMIM:615777
6949	TCOF1	HP:0000778	Hypoplasia of the thymus	HP:0040283	ORPHA:861
6949	TCOF1	HP:0000774	Narrow chest	2/7	OMIM:615777
6949	TCOF1	HP:0004443	Lambdoidal craniosynostosis	1/4	OMIM:154500
6949	TCOF1	HP:0004440	Coronal craniosynostosis	1/4	OMIM:154500
6949	TCOF1	HP:0005701	Multiple enchondromatosis	HP:0040283	ORPHA:861
6949	TCOF1	HP:0000925	Abnormality of the vertebral column	HP:0040283	ORPHA:861
6949	TCOF1	HP:0000926	Platyspondyly	1/7	OMIM:615777
6949	TCOF1	HP:0003180	Flat acetabular roof	-	OMIM:615777
6949	TCOF1	HP:0004482	Relative macrocephaly	-	OMIM:615777
6949	TCOF1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
6949	TCOF1	HP:0000834	Abnormality of the adrenal glands	HP:0040283	ORPHA:861
6949	TCOF1	HP:0000823	Delayed puberty	-	OMIM:131300
6949	TCOF1	HP:0000894	Short clavicles	-	OMIM:615777
6949	TCOF1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
6949	TCOF1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
6949	TCOF1	HP:0000286	Epicanthus	1/7	OMIM:615777
6949	TCOF1	HP:0000280	Coarse facial features	2/7	OMIM:615777
6949	TCOF1	HP:0000278	Retrognathia	HP:0040281	ORPHA:861
6949	TCOF1	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:861
6949	TCOF1	HP:0000272	Malar flattening	74/75	OMIM:154500
6949	TCOF1	HP:0000272	Malar flattening	HP:0040281	ORPHA:861
6949	TCOF1	HP:0007776	Sparse lower eyelashes	-	OMIM:154500
6949	TCOF1	HP:0002827	Hip dislocation	3/7	OMIM:615777
6949	TCOF1	HP:0000238	Hydrocephalus	1/4	OMIM:154500
6949	TCOF1	HP:0000252	Microcephaly	-	OMIM:615777
6949	TCOF1	HP:0000248	Brachycephaly	HP:0040283	ORPHA:861
6949	TCOF1	HP:0000218	High palate	HP:0040283	ORPHA:861
6949	TCOF1	HP:0002857	Genu valgum	-	OMIM:131300
6949	TCOF1	HP:0001533	Slender build	-	OMIM:131300
6949	TCOF1	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:861
6949	TCOF1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:861
6949	TCOF1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
6949	TCOF1	HP:0007807	Optic nerve compression	-	OMIM:131300
6949	TCOF1	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:861
6949	TCOF1	HP:0000384	Preauricular skin tag	-	OMIM:154500
6949	TCOF1	HP:0012368	Flat face	7/7	OMIM:615777
6949	TCOF1	HP:0000377	Abnormal pinna morphology	4/4	OMIM:154500
6949	TCOF1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
6949	TCOF1	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:861
6949	TCOF1	HP:0000365	Hearing impairment	10/67	OMIM:131300
6949	TCOF1	HP:0000356	Abnormality of the outer ear	HP:0040282	ORPHA:861
6949	TCOF1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:861
6949	TCOF1	HP:0000370	Abnormality of the middle ear	HP:0040282	ORPHA:861
6949	TCOF1	HP:0000343	Long philtrum	1/7	OMIM:615777
6949	TCOF1	HP:0011001	Increased bone mineral density	-	OMIM:131300
6949	TCOF1	HP:0000347	Micrognathia	1/1	OMIM:154500
6949	TCOF1	HP:0000347	Micrognathia	HP:0040281	ORPHA:861
6949	TCOF1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:861
6949	TCOF1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:861
6949	TCOF1	HP:0000311	Round face	2/7	OMIM:615777
6949	TCOF1	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:861
6949	TCOF1	HP:0001627	Abnormal heart morphology	-	OMIM:154500
6949	TCOF1	HP:0002970	Genu varum	-	OMIM:615777
6949	TCOF1	HP:0000303	Mandibular prognathia	-	OMIM:131300
6949	TCOF1	HP:0000405	Conductive hearing impairment	66/73	OMIM:154500
6949	TCOF1	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:861
6949	TCOF1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
6949	TCOF1	HP:0000486	Strabismus	-	OMIM:154500
6949	TCOF1	HP:0000486	Strabismus	HP:0040282	ORPHA:861
6949	TCOF1	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:861
6949	TCOF1	HP:0000494	Downslanted palpebral fissures	74/74	OMIM:154500
6949	TCOF1	HP:0000470	Short neck	1/7	OMIM:615777
6949	TCOF1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
6949	TCOF1	HP:0001763	Pes planus	1/7	OMIM:615777
6949	TCOF1	HP:0000453	Choanal atresia	HP:0040283	ORPHA:861
6949	TCOF1	HP:0000453	Choanal atresia	9/60	OMIM:154500
6949	TCOF1	HP:0000413	Atresia of the external auditory canal	HP:0040282	ORPHA:861
6949	TCOF1	HP:0000413	Atresia of the external auditory canal	48/65	OMIM:154500
6949	TCOF1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:861
6949	TCOF1	HP:0000518	Cataract	HP:0040283	ORPHA:861
6949	TCOF1	HP:0001840	Metatarsus adductus	-	OMIM:615777
6949	TCOF1	HP:0000520	Proptosis	2/4	OMIM:131300
6949	TCOF1	HP:0000520	Proptosis	7/7	OMIM:615777
6949	TCOF1	HP:0000508	Ptosis	-	OMIM:154500
6949	TCOF1	HP:0000505	Visual impairment	HP:0040282	ORPHA:861
6949	TCOF1	HP:0000592	Blue sclerae	2/7	OMIM:615777
6949	TCOF1	HP:0000561	Absent eyelashes	3/3	OMIM:154500
6949	TCOF1	HP:0000561	Absent eyelashes	HP:0040282	ORPHA:861
6949	TCOF1	HP:0011219	Short face	HP:0040281	ORPHA:861
6949	TCOF1	HP:0000572	Visual loss	-	OMIM:154500
6949	TCOF1	HP:0000568	Microphthalmia	HP:0040283	ORPHA:861
6949	TCOF1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
6949	TCOF1	HP:0012514	Lower limb pain	4/4	OMIM:131300
6997	CRIPTO	HP:0002465	Poor speech	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0002465	Poor speech	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0002465	Poor speech	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0002465	Poor speech	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0002474	Expressive language delay	HP:0040282	ORPHA:280195
6997	CRIPTO	HP:0002451	Limb dystonia	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0002451	Limb dystonia	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0009932	Single naris	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0009932	Single naris	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0009932	Single naris	HP:0040284	ORPHA:93924
6997	CRIPTO	HP:0009932	Single naris	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0009914	Cyclopia	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0009914	Cyclopia	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0009914	Cyclopia	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0009914	Cyclopia	HP:0040284	ORPHA:93924
6997	CRIPTO	HP:0009914	Cyclopia	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0002418	Abnormal midbrain morphology	HP:0040282	ORPHA:280195
6997	CRIPTO	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:280195
6997	CRIPTO	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:280195
6997	CRIPTO	HP:0001254	Lethargy	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0001254	Lethargy	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0001254	Lethargy	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0001254	Lethargy	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0001250	Seizure	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0001250	Seizure	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0001250	Seizure	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0001250	Seizure	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0001250	Seizure	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280195
6997	CRIPTO	HP:0001249	Intellectual disability	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280200
6997	CRIPTO	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0001257	Spasticity	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0001257	Spasticity	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0001257	Spasticity	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0001257	Spasticity	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0007375	Abnormal septum pellucidum morphology	HP:0040283	ORPHA:280195
6997	CRIPTO	HP:0007330	Frontoethmoidal encephalocele	HP:0040283	ORPHA:280195
6997	CRIPTO	HP:0002540	Inability to walk	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0002540	Inability to walk	HP:0040284	ORPHA:93924
6997	CRIPTO	HP:0002540	Inability to walk	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0002540	Inability to walk	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0001371	Flexion contracture	HP:0040284	ORPHA:93924
6997	CRIPTO	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0001371	Flexion contracture	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0001355	Megalencephaly	HP:0040283	ORPHA:280195
6997	CRIPTO	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0001328	Specific learning disability	HP:0040282	ORPHA:280195
6997	CRIPTO	HP:0001328	Specific learning disability	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0001344	Absent speech	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0001344	Absent speech	HP:0040284	ORPHA:93924
6997	CRIPTO	HP:0001344	Absent speech	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0001344	Absent speech	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
6997	CRIPTO	HP:0002650	Scoliosis	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0002650	Scoliosis	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0002650	Scoliosis	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0002650	Scoliosis	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0002650	Scoliosis	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0000193	Bifid uvula	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0000193	Bifid uvula	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0000175	Cleft palate	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0000175	Cleft palate	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0000175	Cleft palate	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0000175	Cleft palate	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0000175	Cleft palate	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:280200
6997	CRIPTO	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0006315	Solitary median maxillary central incisor	HP:0040284	ORPHA:93924
6997	CRIPTO	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0008947	Floppy infant	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0008947	Floppy infant	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0008947	Floppy infant	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0008947	Floppy infant	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:280195
6997	CRIPTO	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0002793	Abnormal pattern of respiration	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0000104	Renal agenesis	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0002019	Constipation	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0002019	Constipation	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0002019	Constipation	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0002019	Constipation	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0002033	Poor suck	HP:0040281	ORPHA:93926
6997	CRIPTO	HP:0002033	Poor suck	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0002033	Poor suck	HP:0040281	ORPHA:93925
6997	CRIPTO	HP:0002033	Poor suck	HP:0040281	ORPHA:220386
6997	CRIPTO	HP:0002015	Dysphagia	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0002015	Dysphagia	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0002015	Dysphagia	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0002015	Dysphagia	HP:0040283	ORPHA:280195
6997	CRIPTO	HP:0002015	Dysphagia	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0002013	Vomiting	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0002013	Vomiting	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0002013	Vomiting	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0002013	Vomiting	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0005968	Temperature instability	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0005968	Temperature instability	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0005968	Temperature instability	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0005968	Temperature instability	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0002099	Asthma	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280195
6997	CRIPTO	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0100710	Impulsivity	HP:0040282	ORPHA:280195
6997	CRIPTO	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0010654	Aplasia of the falx cerebri	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0010644	Midnasal stenosis	HP:0040281	ORPHA:280200
6997	CRIPTO	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93926
6997	CRIPTO	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93924
6997	CRIPTO	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93925
6997	CRIPTO	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:220386
6997	CRIPTO	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0001028	Hemangioma	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:280200
6997	CRIPTO	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
6997	CRIPTO	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0000612	Iris coloboma	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0000601	Hypotelorism	HP:0040282	ORPHA:280200
6997	CRIPTO	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93926
6997	CRIPTO	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93924
6997	CRIPTO	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93925
6997	CRIPTO	HP:0000601	Hypotelorism	HP:0040281	ORPHA:220386
6997	CRIPTO	HP:0012650	Perisylvian polymicrogyria	HP:0040283	ORPHA:280195
6997	CRIPTO	HP:0004322	Short stature	HP:0040281	ORPHA:220386
6997	CRIPTO	HP:0004322	Short stature	HP:0040282	ORPHA:280200
6997	CRIPTO	HP:0004322	Short stature	HP:0040281	ORPHA:93926
6997	CRIPTO	HP:0004322	Short stature	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0004322	Short stature	HP:0040281	ORPHA:93925
6997	CRIPTO	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0031913	Rhombencephalosynapsis	HP:0040283	ORPHA:280195
6997	CRIPTO	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:280195
6997	CRIPTO	HP:0000737	Irritability	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0000737	Irritability	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0000737	Irritability	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0000737	Irritability	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0000739	Anxiety	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0000739	Anxiety	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0000739	Anxiety	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0000739	Anxiety	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0000736	Short attention span	HP:0040282	ORPHA:280195
6997	CRIPTO	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0000741	Apathy	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0000741	Apathy	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0000741	Apathy	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0000741	Apathy	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0000716	Depression	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0000716	Depression	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0000716	Depression	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0000716	Depression	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0000708	Atypical behavior	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:280195
6997	CRIPTO	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0003196	Short nose	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0004467	Preauricular pit	-	OMIM:187500
6997	CRIPTO	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0000873	Diabetes insipidus	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0000863	Central diabetes insipidus	HP:0040282	ORPHA:280195
6997	CRIPTO	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:280195
6997	CRIPTO	HP:0012806	Proboscis	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0012806	Proboscis	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0012806	Proboscis	HP:0040284	ORPHA:93924
6997	CRIPTO	HP:0012806	Proboscis	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0000826	Precocious puberty	HP:0040282	ORPHA:280195
6997	CRIPTO	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0045005	Neural tube defect	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0045005	Neural tube defect	HP:0040284	ORPHA:93924
6997	CRIPTO	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0000256	Macrocephaly	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0002827	Hip dislocation	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0000252	Microcephaly	HP:0040283	ORPHA:280195
6997	CRIPTO	HP:0000252	Microcephaly	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0000252	Microcephaly	HP:0040282	ORPHA:280200
6997	CRIPTO	HP:0000252	Microcephaly	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0000252	Microcephaly	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0000252	Microcephaly	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0000218	High palate	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0000218	High palate	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0000218	High palate	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0000218	High palate	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:280195
6997	CRIPTO	HP:0002871	Central apnea	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0002871	Central apnea	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0002871	Central apnea	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0002871	Central apnea	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93926
6997	CRIPTO	HP:0001508	Failure to thrive	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93925
6997	CRIPTO	HP:0001508	Failure to thrive	HP:0040281	ORPHA:220386
6997	CRIPTO	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:280200
6997	CRIPTO	HP:0001510	Growth delay	HP:0040281	ORPHA:93926
6997	CRIPTO	HP:0001510	Growth delay	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0001510	Growth delay	HP:0040281	ORPHA:93925
6997	CRIPTO	HP:0001510	Growth delay	HP:0040281	ORPHA:220386
6997	CRIPTO	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0000337	Broad forehead	-	OMIM:187500
6997	CRIPTO	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:280195
6997	CRIPTO	HP:0000322	Short philtrum	HP:0040282	ORPHA:280200
6997	CRIPTO	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93926
6997	CRIPTO	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93924
6997	CRIPTO	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93925
6997	CRIPTO	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:220386
6997	CRIPTO	HP:0001622	Premature birth	HP:0040282	ORPHA:280200
6997	CRIPTO	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
6997	CRIPTO	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0000486	Strabismus	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93926
6997	CRIPTO	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93925
6997	CRIPTO	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:220386
6997	CRIPTO	HP:0000463	Anteverted nares	HP:0040283	ORPHA:280200
6997	CRIPTO	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93926
6997	CRIPTO	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93924
6997	CRIPTO	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93925
6997	CRIPTO	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:220386
6997	CRIPTO	HP:0000453	Choanal atresia	HP:0040281	ORPHA:280200
6997	CRIPTO	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:280200
6997	CRIPTO	HP:0000520	Proptosis	-	OMIM:187500
6999	TDO2	HP:0001181	Adducted thumb	-	OMIM:600627
6999	TDO2	HP:0500134	Hypertryptophanemia	HP:0040281	ORPHA:2224
6999	TDO2	HP:0500134	Hypertryptophanemia	1/1	OMIM:600627
6999	TDO2	HP:0025268	Stuttering	-	OMIM:600627
6999	TDO2	HP:0001249	Intellectual disability	0/1	OMIM:600627
6999	TDO2	HP:0001263	Global developmental delay	0/1	OMIM:600627
6999	TDO2	HP:0001377	Limited elbow extension	-	OMIM:600627
6999	TDO2	HP:0000007	Autosomal recessive inheritance	-	OMIM:600627
6999	TDO2	HP:0002761	Generalized joint hypermobility	-	OMIM:600627
6999	TDO2	HP:0003361	Tryptophanuria	HP:0040281	ORPHA:2224
6999	TDO2	HP:0003361	Tryptophanuria	-	OMIM:600627
6999	TDO2	HP:0100490	Camptodactyly of finger	-	OMIM:600627
6999	TDO2	HP:0002342	Intellectual disability, moderate	-	OMIM:600627
6999	TDO2	HP:0003623	Neonatal onset	1/1	OMIM:600627
6999	TDO2	HP:5200321	Amplification of sexual behavior	-	OMIM:600627
6999	TDO2	HP:0000716	Depression	-	OMIM:600627
6999	TDO2	HP:0000718	Aggressive behavior	-	OMIM:600627
6999	TDO2	HP:0000712	Emotional lability	-	OMIM:600627
6999	TDO2	HP:0003144	Increased serum serotonin	1/1	OMIM:600627
6999	TDO2	HP:0003144	Increased serum serotonin	HP:0040281	ORPHA:2224
6999	TDO2	HP:0000316	Hypertelorism	-	OMIM:600627
6999	TDO2	HP:0000407	Sensorineural hearing impairment	-	OMIM:600627
6999	TDO2	HP:0000486	Strabismus	-	OMIM:600627
6999	TDO2	HP:0001763	Pes planus	-	OMIM:600627
6999	TDO2	HP:0000505	Visual impairment	-	OMIM:600627
6999	TDO2	HP:0000545	Myopia	-	OMIM:600627
7003	TEAD1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
7003	TEAD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
7003	TEAD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
7003	TEAD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:108985
7003	TEAD1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
7003	TEAD1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
7003	TEAD1	HP:0003677	Slowly progressive	-	OMIM:108985
7003	TEAD1	HP:0003621	Juvenile onset	8/19	OMIM:180100
7003	TEAD1	HP:0000662	Nyctalopia	26/28	OMIM:180100
7003	TEAD1	HP:0011463	Childhood onset	3/19	OMIM:180100
7003	TEAD1	HP:0011462	Young adult onset	8/19	OMIM:180100
7003	TEAD1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
7003	TEAD1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
7003	TEAD1	HP:0007950	Peripapillary chorioretinal atrophy	-	OMIM:108985
7003	TEAD1	HP:0000483	Astigmatism	-	OMIM:108985
7003	TEAD1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
7003	TEAD1	HP:0000575	Scotoma	5/18	OMIM:180100
7003	TEAD1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
7003	TEAD1	HP:0000545	Myopia	-	OMIM:180100
7003	TEAD1	HP:0000545	Myopia	-	OMIM:108985
7007	TECTA	HP:0000007	Autosomal recessive inheritance	-	OMIM:603629
7007	TECTA	HP:0000006	Autosomal dominant inheritance	-	OMIM:601543
7007	TECTA	HP:0000407	Sensorineural hearing impairment	-	OMIM:603629
7007	TECTA	HP:0000407	Sensorineural hearing impairment	-	OMIM:601543
7010	TEK	HP:0009926	Epiphora	HP:0040282	ORPHA:98976
7010	TEK	HP:0002584	Intestinal bleeding	HP:0040282	ORPHA:1059
7010	TEK	HP:0002584	Intestinal bleeding	-	OMIM:600195
7010	TEK	HP:0002580	Volvulus	HP:0040282	ORPHA:1059
7010	TEK	HP:0002597	Abnormality of the vasculature	HP:0040282	ORPHA:1059
7010	TEK	HP:0012040	Corneal stromal edema	-	OMIM:617272
7010	TEK	HP:0012040	Corneal stromal edema	HP:0040281	ORPHA:98976
7010	TEK	HP:0000007	Autosomal recessive inheritance	-	OMIM:600975
7010	TEK	HP:0000006	Autosomal dominant inheritance	-	OMIM:600195
7010	TEK	HP:0000006	Autosomal dominant inheritance	-	OMIM:617272
7010	TEK	HP:0002653	Bone pain	HP:0040281	ORPHA:1059
7010	TEK	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:1059
7010	TEK	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:98976
7010	TEK	HP:0100761	Visceral angiomatosis	HP:0040281	ORPHA:1059
7010	TEK	HP:0001048	Cavernous hemangioma	HP:0040281	ORPHA:1059
7010	TEK	HP:0001089	Iris atrophy	HP:0040282	ORPHA:98976
7010	TEK	HP:0100693	Iridodonesis	HP:0040283	ORPHA:98976
7010	TEK	HP:0000646	Amblyopia	HP:0040283	ORPHA:98976
7010	TEK	HP:0000643	Blepharospasm	HP:0040282	ORPHA:98976
7010	TEK	HP:0000613	Photophobia	HP:0040282	ORPHA:98976
7010	TEK	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:1059
7010	TEK	HP:0001935	Microcytic anemia	HP:0040283	ORPHA:1059
7010	TEK	HP:0003010	Prolonged bleeding time	HP:0040281	ORPHA:1059
7010	TEK	HP:0012721	Venous malformation	-	OMIM:600195
7010	TEK	HP:0100026	Arteriovenous malformation	HP:0040281	ORPHA:1059
7010	TEK	HP:0011490	Abnormal Descemet membrane morphology	HP:0040282	ORPHA:98976
7010	TEK	HP:0012796	Increased cup-to-disc ratio	-	OMIM:617272
7010	TEK	HP:0012803	Anisometropia	HP:0040283	ORPHA:98976
7010	TEK	HP:0008007	Primary congenital glaucoma	-	OMIM:600975
7010	TEK	HP:0000988	Skin rash	HP:0040281	ORPHA:1059
7010	TEK	HP:0007765	Deep anterior chamber	HP:0040282	ORPHA:98976
7010	TEK	HP:0005244	Gastrointestinal infarctions	HP:0040283	ORPHA:1059
7010	TEK	HP:0007957	Corneal opacity	HP:0040282	ORPHA:98976
7010	TEK	HP:0007906	Ocular hypertension	-	OMIM:617272
7010	TEK	HP:0007906	Ocular hypertension	HP:0040282	ORPHA:98976
7010	TEK	HP:0000485	Megalocornea	-	OMIM:617272
7010	TEK	HP:0000485	Megalocornea	HP:0040282	ORPHA:98976
7010	TEK	HP:0025751	Reduced anterior scleral thickness	HP:0040282	ORPHA:98976
7010	TEK	HP:0000501	Glaucoma	HP:0040281	ORPHA:98976
7010	TEK	HP:0000501	Glaucoma	-	OMIM:617272
7010	TEK	HP:0000557	Buphthalmos	HP:0040282	ORPHA:98976
7010	TEK	HP:0000572	Visual loss	HP:0040283	ORPHA:98976
7010	TEK	HP:0000545	Myopia	HP:0040283	ORPHA:98976
7012	TERC	HP:0025175	Honeycomb lung	HP:0040282	ORPHA:2032
7012	TERC	HP:0025179	Ground-glass opacification	HP:0040282	ORPHA:2032
7012	TERC	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:1775
7012	TERC	HP:0001251	Ataxia	-	OMIM:127550
7012	TERC	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1775
7012	TERC	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1775
7012	TERC	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1775
7012	TERC	HP:0008661	Urethral stenosis	HP:0040282	ORPHA:1775
7012	TERC	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:1775
7012	TERC	HP:0003829	Typified by incomplete penetrance	-	OMIM:614743
7012	TERC	HP:0032341	Reduced forced vital capacity	HP:0040282	ORPHA:2032
7012	TERC	HP:0001399	Hepatic failure	HP:0040283	ORPHA:1775
7012	TERC	HP:0001394	Cirrhosis	-	OMIM:178500
7012	TERC	HP:0001394	Cirrhosis	2/12	OMIM:127550
7012	TERC	HP:0001394	Cirrhosis	HP:0040283	OMIM:614743
7012	TERC	HP:0001394	Cirrhosis	HP:0040283	ORPHA:1775
7012	TERC	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:1775
7012	TERC	HP:0025390	Reticular pattern on pulmonary HRCT	HP:0040282	ORPHA:2032
7012	TERC	HP:0002664	Neoplasm	HP:0040282	ORPHA:1775
7012	TERC	HP:0001328	Specific learning disability	-	OMIM:127550
7012	TERC	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040282	ORPHA:1775
7012	TERC	HP:0002665	Lymphoma	HP:0040283	ORPHA:1775
7012	TERC	HP:0000006	Autosomal dominant inheritance	-	OMIM:178500
7012	TERC	HP:0000006	Autosomal dominant inheritance	-	OMIM:614743
7012	TERC	HP:0000006	Autosomal dominant inheritance	-	OMIM:127550
7012	TERC	HP:0002639	Budd-Chiari syndrome	1/12	OMIM:127550
7012	TERC	HP:0002650	Scoliosis	HP:0040283	ORPHA:1775
7012	TERC	HP:0001321	Cerebellar hypoplasia	-	OMIM:127550
7012	TERC	HP:0002605	Hepatic necrosis	1/12	OMIM:127550
7012	TERC	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:1775
7012	TERC	HP:0007588	Reticular hyperpigmentation	10/12	OMIM:127550
7012	TERC	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:1775
7012	TERC	HP:0002745	Oral leukoplakia	HP:0040281	ORPHA:1775
7012	TERC	HP:0002745	Oral leukoplakia	4/12	OMIM:127550
7012	TERC	HP:0002719	Recurrent infections	HP:0040283	ORPHA:88
7012	TERC	HP:0002024	Malabsorption	HP:0040282	ORPHA:1775
7012	TERC	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2032
7012	TERC	HP:0002094	Dyspnea	-	OMIM:178500
7012	TERC	HP:0002094	Dyspnea	1/12	OMIM:127550
7012	TERC	HP:0002092	Pulmonary arterial hypertension	-	OMIM:178500
7012	TERC	HP:0010444	Pulmonic regurgitation	HP:0040283	ORPHA:2032
7012	TERC	HP:0010450	Esophageal stenosis	HP:0040282	ORPHA:1775
7012	TERC	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:1775
7012	TERC	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:2032
7012	TERC	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:1775
7012	TERC	HP:0003581	Adult onset	-	OMIM:614743
7012	TERC	HP:0002216	Premature graying of hair	-	OMIM:614743
7012	TERC	HP:0002216	Premature graying of hair	4/12	OMIM:127550
7012	TERC	HP:0002216	Premature graying of hair	HP:0040283	ORPHA:1775
7012	TERC	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:2032
7012	TERC	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1775
7012	TERC	HP:0002206	Pulmonary fibrosis	-	OMIM:614743
7012	TERC	HP:0002206	Pulmonary fibrosis	11/15	OMIM:178500
7012	TERC	HP:0002206	Pulmonary fibrosis	3/12	OMIM:127550
7012	TERC	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:2032
7012	TERC	HP:0008404	Nail dystrophy	8/10	OMIM:127550
7012	TERC	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:1775
7012	TERC	HP:0010702	Increased circulating immunoglobulin concentration	-	OMIM:178500
7012	TERC	HP:0100759	Clubbing of fingers	HP:0040282	ORPHA:2032
7012	TERC	HP:0100759	Clubbing of fingers	50%	OMIM:178500
7012	TERC	HP:0033367	Orthodeoxia	HP:0040283	ORPHA:2032
7012	TERC	HP:0010624	Aplastic/hypoplastic toenail	HP:0040282	ORPHA:1775
7012	TERC	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:1775
7012	TERC	HP:0001063	Acrocyanosis	HP:0040282	ORPHA:2032
7012	TERC	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:1775
7012	TERC	HP:0200037	Skin vesicle	HP:0040283	ORPHA:1775
7012	TERC	HP:0100670	Coarse metaphyseal trabecularization	HP:0040282	ORPHA:1775
7012	TERC	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:1775
7012	TERC	HP:0200042	Skin ulcer	HP:0040282	ORPHA:1775
7012	TERC	HP:0005528	Bone marrow hypocellularity	-	OMIM:614743
7012	TERC	HP:0005528	Bone marrow hypocellularity	-	OMIM:127550
7012	TERC	HP:0005528	Bone marrow hypocellularity	HP:0040281	ORPHA:88
7012	TERC	HP:0005528	Bone marrow hypocellularity	HP:0040282	ORPHA:1775
7012	TERC	HP:0005518	Increased mean corpuscular volume	11/12	OMIM:127550
7012	TERC	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:1775
7012	TERC	HP:0000600	Abnormality of the pharynx	HP:0040282	ORPHA:1775
7012	TERC	HP:0001909	Leukemia	-	OMIM:614743
7012	TERC	HP:0001903	Anemia	HP:0040280	ORPHA:88
7012	TERC	HP:0001903	Anemia	6/12	OMIM:127550
7012	TERC	HP:0001903	Anemia	HP:0040281	ORPHA:1775
7012	TERC	HP:0001915	Aplastic anemia	-	OMIM:614743
7012	TERC	HP:0001915	Aplastic anemia	-	OMIM:127550
7012	TERC	HP:0011364	White hair	HP:0040283	ORPHA:1775
7012	TERC	HP:0000679	Taurodontia	HP:0040282	ORPHA:1775
7012	TERC	HP:0000670	Carious teeth	-	OMIM:127550
7012	TERC	HP:0000670	Carious teeth	HP:0040282	ORPHA:1775
7012	TERC	HP:0000668	Hypodontia	HP:0040282	ORPHA:1775
7012	TERC	HP:0004322	Short stature	HP:0040282	ORPHA:1775
7012	TERC	HP:0004334	Dermal atrophy	-	OMIM:127550
7012	TERC	HP:0031950	Usual interstitial pneumonia	HP:0040282	ORPHA:2032
7012	TERC	HP:0031950	Usual interstitial pneumonia	-	OMIM:178500
7012	TERC	HP:0012735	Cough	-	OMIM:178500
7012	TERC	HP:0012735	Cough	HP:0040282	ORPHA:2032
7012	TERC	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:1775
7012	TERC	HP:0012733	Macule	HP:0040281	ORPHA:1775
7012	TERC	HP:0000704	Periodontitis	HP:0040282	ORPHA:1775
7012	TERC	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1775
7012	TERC	HP:0045051	Decreased DLCO	-	OMIM:178500
7012	TERC	HP:0045051	Decreased DLCO	HP:0040282	ORPHA:2032
7012	TERC	HP:0030830	Crackles	HP:0040282	ORPHA:2032
7012	TERC	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1775
7012	TERC	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:1775
7012	TERC	HP:0000939	Osteoporosis	-	OMIM:127550
7012	TERC	HP:0000939	Osteoporosis	HP:0040283	ORPHA:1775
7012	TERC	HP:0008070	Sparse hair	-	OMIM:127550
7012	TERC	HP:0008070	Sparse hair	HP:0040282	ORPHA:1775
7012	TERC	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1775
7012	TERC	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:1775
7012	TERC	HP:0001596	Alopecia	-	OMIM:127550
7012	TERC	HP:0001596	Alopecia	HP:0040283	ORPHA:1775
7012	TERC	HP:0030057	Autoimmune antibody positivity	-	ORPHA:88
7012	TERC	HP:0002875	Exertional dyspnea	-	OMIM:178500
7012	TERC	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:2032
7012	TERC	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:1775
7012	TERC	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:88
7012	TERC	HP:0002863	Myelodysplasia	-	OMIM:127550
7012	TERC	HP:0031364	Ecchymosis	HP:0040283	ORPHA:88
7012	TERC	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1775
7012	TERC	HP:0012378	Fatigue	HP:0040282	ORPHA:2032
7012	TERC	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040281	ORPHA:2032
7012	TERC	HP:0006515	Interstitial pneumonitis	1/12	OMIM:127550
7012	TERC	HP:0006519	Alveolar cell carcinoma	-	OMIM:178500
7012	TERC	HP:0006480	Premature loss of teeth	-	OMIM:127550
7012	TERC	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1775
7012	TERC	HP:0012324	Myeloid leukemia	-	OMIM:614743
7012	TERC	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:1775
7012	TERC	HP:0031631	Subpleural honeycombing	HP:0040282	ORPHA:2032
7012	TERC	HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion	-	OMIM:178500
7012	TERC	HP:0000499	Abnormal eyelash morphology	HP:0040283	ORPHA:1775
7012	TERC	HP:0000498	Blepharitis	HP:0040283	ORPHA:1775
7012	TERC	HP:0005374	Cellular immunodeficiency	HP:0040282	ORPHA:1775
7012	TERC	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1775
7012	TERC	HP:0000421	Epistaxis	HP:0040283	ORPHA:88
7012	TERC	HP:0006739	Squamous cell carcinoma of the skin	-	OMIM:127550
7012	TERC	HP:0000518	Cataract	HP:0040283	ORPHA:1775
7012	TERC	HP:0001807	Ridged nail	-	OMIM:127550
7012	TERC	HP:0001803	Nail pits	-	OMIM:127550
7012	TERC	HP:0001888	Decreased total lymphocyte count	-	OMIM:127550
7012	TERC	HP:0000573	Retinal hemorrhage	HP:0040283	ORPHA:88
7012	TERC	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:88
7012	TERC	HP:0000534	Abnormal eyebrow morphology	HP:0040283	ORPHA:1775
7012	TERC	HP:0001882	Decreased total leukocyte count	7/12	OMIM:127550
7012	TERC	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:1775
7012	TERC	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:88
7012	TERC	HP:0001873	Thrombocytopenia	7/12	OMIM:127550
7012	TERC	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:1775
7012	TERC	HP:0001876	Pancytopenia	HP:0040282	ORPHA:88
7012	TERC	HP:0001876	Pancytopenia	-	OMIM:614743
7012	TERC	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:88
7015	TERT	HP:0025134	Increased serum estradiol	HP:0040282	ORPHA:1501
7015	TERT	HP:0025175	Honeycomb lung	HP:0040282	ORPHA:2032
7015	TERT	HP:0025179	Ground-glass opacification	HP:0040282	ORPHA:2032
7015	TERT	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:1775
7015	TERT	HP:0010885	Avascular necrosis	1/6	OMIM:613989
7015	TERT	HP:0003743	Genetic anticipation	-	OMIM:613989
7015	TERT	HP:0003764	Nevus	HP:0040281	ORPHA:618
7015	TERT	HP:0025269	Panic attack	HP:0040282	ORPHA:1501
7015	TERT	HP:0001276	Hypertonia	HP:0040282	ORPHA:3322
7015	TERT	HP:0001269	Hemiparesis	HP:0040283	ORPHA:2495
7015	TERT	HP:0001288	Gait disturbance	HP:0040283	ORPHA:2495
7015	TERT	HP:0001279	Syncope	HP:0040284	ORPHA:2495
7015	TERT	HP:0001250	Seizure	HP:0040282	ORPHA:2495
7015	TERT	HP:0001251	Ataxia	-	OMIM:127550
7015	TERT	HP:0001251	Ataxia	HP:0040283	ORPHA:2495
7015	TERT	HP:0001251	Ataxia	HP:0040283	ORPHA:3322
7015	TERT	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3322
7015	TERT	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:3322
7015	TERT	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3322
7015	TERT	HP:0001263	Global developmental delay	-	OMIM:613989
7015	TERT	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1775
7015	TERT	HP:0001262	Excessive daytime somnolence	HP:0040284	ORPHA:2495
7015	TERT	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1775
7015	TERT	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1775
7015	TERT	HP:0007440	Generalized hyperpigmentation	HP:0040282	ORPHA:3322
7015	TERT	HP:0007427	Reticulated skin pigmentation	-	OMIM:613989
7015	TERT	HP:0007392	Excessive wrinkled skin	HP:0040282	ORPHA:3322
7015	TERT	HP:0010997	Chromosomal breakage induced by ionizing radiation	HP:0040281	ORPHA:2495
7015	TERT	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:2495
7015	TERT	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:2495
7015	TERT	HP:0008661	Urethral stenosis	HP:0040282	ORPHA:1775
7015	TERT	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:2495
7015	TERT	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:3322
7015	TERT	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:1775
7015	TERT	HP:0002512	Brain stem compression	HP:0040284	ORPHA:2495
7015	TERT	HP:0003829	Typified by incomplete penetrance	-	OMIM:614742
7015	TERT	HP:0032341	Reduced forced vital capacity	HP:0040282	ORPHA:2032
7015	TERT	HP:0000080	Abnormality of reproductive system physiology	HP:0040282	ORPHA:1501
7015	TERT	HP:0025380	Increased circulating androstenedione concentration	HP:0040282	ORPHA:1501
7015	TERT	HP:0001399	Hepatic failure	HP:0040283	ORPHA:1775
7015	TERT	HP:0001395	Hepatic fibrosis	2/6	OMIM:613989
7015	TERT	HP:0001394	Cirrhosis	-	OMIM:178500
7015	TERT	HP:0001394	Cirrhosis	2/12	OMIM:127550
7015	TERT	HP:0001394	Cirrhosis	3/134	OMIM:614742
7015	TERT	HP:0001394	Cirrhosis	HP:0040283	ORPHA:1775
7015	TERT	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:2495
7015	TERT	HP:0012030	Increased urinary cortisol level	HP:0040282	ORPHA:1501
7015	TERT	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:2495
7015	TERT	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:1775
7015	TERT	HP:0025390	Reticular pattern on pulmonary HRCT	-	OMIM:614742
7015	TERT	HP:0025390	Reticular pattern on pulmonary HRCT	HP:0040282	ORPHA:2032
7015	TERT	HP:0002664	Neoplasm	HP:0040283	ORPHA:3322
7015	TERT	HP:0002664	Neoplasm	HP:0040282	ORPHA:1775
7015	TERT	HP:0001328	Specific learning disability	-	OMIM:127550
7015	TERT	HP:0001324	Muscle weakness	HP:0040282	ORPHA:1501
7015	TERT	HP:0001342	Cerebral hemorrhage	HP:0040284	ORPHA:2495
7015	TERT	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040282	ORPHA:1775
7015	TERT	HP:0000007	Autosomal recessive inheritance	-	OMIM:613989
7015	TERT	HP:0002665	Lymphoma	HP:0040283	ORPHA:1775
7015	TERT	HP:0000006	Autosomal dominant inheritance	-	OMIM:178500
7015	TERT	HP:0000006	Autosomal dominant inheritance	-	OMIM:614742
7015	TERT	HP:0000006	Autosomal dominant inheritance	-	OMIM:615134
7015	TERT	HP:0000006	Autosomal dominant inheritance	-	OMIM:613989
7015	TERT	HP:0000006	Autosomal dominant inheritance	-	OMIM:127550
7015	TERT	HP:0000006	Autosomal dominant inheritance	-	OMIM:601626
7015	TERT	HP:0002639	Budd-Chiari syndrome	1/12	OMIM:127550
7015	TERT	HP:0002650	Scoliosis	HP:0040283	ORPHA:1775
7015	TERT	HP:0001321	Cerebellar hypoplasia	-	OMIM:613989
7015	TERT	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:3322
7015	TERT	HP:0001321	Cerebellar hypoplasia	-	OMIM:127550
7015	TERT	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:2495
7015	TERT	HP:0002605	Hepatic necrosis	1/12	OMIM:127550
7015	TERT	HP:0000164	Abnormality of the dentition	-	OMIM:613989
7015	TERT	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:1775
7015	TERT	HP:0000141	Amenorrhea	HP:0040282	ORPHA:2495
7015	TERT	HP:0025436	Elevated serum 11-deoxycortisol	HP:0040282	ORPHA:1501
7015	TERT	HP:0001480	Freckling	HP:0040282	ORPHA:618
7015	TERT	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	HP:0040282	ORPHA:1501
7015	TERT	HP:0007588	Reticular hyperpigmentation	10/12	OMIM:127550
7015	TERT	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:1775
7015	TERT	HP:0001442	Typified by somatic mosaicism	-	OMIM:601626
7015	TERT	HP:0002745	Oral leukoplakia	HP:0040282	ORPHA:3322
7015	TERT	HP:0002745	Oral leukoplakia	HP:0040281	ORPHA:1775
7015	TERT	HP:0002745	Oral leukoplakia	4/12	OMIM:127550
7015	TERT	HP:0002745	Oral leukoplakia	-	OMIM:613989
7015	TERT	HP:0002719	Recurrent infections	HP:0040283	ORPHA:88
7015	TERT	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:3322
7015	TERT	HP:0002024	Malabsorption	HP:0040282	ORPHA:1775
7015	TERT	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2032
7015	TERT	HP:0002020	Gastroesophageal reflux	35/134	OMIM:614742
7015	TERT	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:2495
7015	TERT	HP:0002027	Abdominal pain	HP:0040282	ORPHA:1501
7015	TERT	HP:0002028	Chronic diarrhea	-	OMIM:613989
7015	TERT	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2495
7015	TERT	HP:0002094	Dyspnea	-	OMIM:178500
7015	TERT	HP:0002094	Dyspnea	51/51	OMIM:614742
7015	TERT	HP:0002094	Dyspnea	1/12	OMIM:127550
7015	TERT	HP:0002092	Pulmonary arterial hypertension	-	OMIM:178500
7015	TERT	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:618
7015	TERT	HP:0002043	Esophageal stricture	-	OMIM:613989
7015	TERT	HP:0010444	Pulmonic regurgitation	HP:0040283	ORPHA:2032
7015	TERT	HP:0010450	Esophageal stenosis	HP:0040282	ORPHA:1775
7015	TERT	HP:0011752	Neoplasm of the posterior pituitary	HP:0040284	ORPHA:2495
7015	TERT	HP:0011748	Adrenocorticotropic hormone deficiency	HP:0040282	ORPHA:1501
7015	TERT	HP:0011750	Neoplasm of the anterior pituitary	HP:0040283	ORPHA:2495
7015	TERT	HP:0011730	Abnormal central sensory function	HP:0040283	ORPHA:2495
7015	TERT	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:1775
7015	TERT	HP:0008163	Decreased circulating cortisol level	HP:0040282	ORPHA:2495
7015	TERT	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:2495
7015	TERT	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:3322
7015	TERT	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:3322
7015	TERT	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0040282	ORPHA:1501
7015	TERT	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:2032
7015	TERT	HP:0003418	Back pain	HP:0040284	ORPHA:2495
7015	TERT	HP:0002167	Abnormal speech pattern	HP:0040284	ORPHA:2495
7015	TERT	HP:0002164	Nail dysplasia	-	OMIM:613989
7015	TERT	HP:0008240	Secondary growth hormone deficiency	HP:0040282	ORPHA:2495
7015	TERT	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:2495
7015	TERT	HP:0008237	Hypothalamic hypothyroidism	HP:0040283	ORPHA:2495
7015	TERT	HP:0010534	Transient global amnesia	HP:0040284	ORPHA:2495
7015	TERT	HP:0008214	Decreased serum estradiol	HP:0040282	ORPHA:2495
7015	TERT	HP:0008202	Reduced circulating prolactin concentration	HP:0040283	ORPHA:2495
7015	TERT	HP:0003596	Middle age onset	3/6	OMIM:613989
7015	TERT	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:1775
7015	TERT	HP:0003581	Adult onset	-	OMIM:614742
7015	TERT	HP:0002216	Premature graying of hair	8/20	OMIM:614742
7015	TERT	HP:0002216	Premature graying of hair	4/12	OMIM:127550
7015	TERT	HP:0002216	Premature graying of hair	3/6	OMIM:613989
7015	TERT	HP:0002216	Premature graying of hair	HP:0040282	ORPHA:3322
7015	TERT	HP:0002216	Premature graying of hair	HP:0040283	ORPHA:1775
7015	TERT	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:2032
7015	TERT	HP:0002211	White forelock	2/6	OMIM:613989
7015	TERT	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:3322
7015	TERT	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1775
7015	TERT	HP:0002206	Pulmonary fibrosis	5/5	OMIM:614742
7015	TERT	HP:0002206	Pulmonary fibrosis	11/15	OMIM:178500
7015	TERT	HP:0002206	Pulmonary fibrosis	3/12	OMIM:127550
7015	TERT	HP:0002206	Pulmonary fibrosis	3/6	OMIM:613989
7015	TERT	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:2032
7015	TERT	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:618
7015	TERT	HP:0008404	Nail dystrophy	8/10	OMIM:127550
7015	TERT	HP:0008404	Nail dystrophy	-	OMIM:613989
7015	TERT	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:3322
7015	TERT	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:1775
7015	TERT	HP:0010702	Increased circulating immunoglobulin concentration	-	OMIM:178500
7015	TERT	HP:0100721	Mediastinal lymphadenopathy	15/51	OMIM:614742
7015	TERT	HP:0100759	Clubbing of fingers	21/51	OMIM:614742
7015	TERT	HP:0100759	Clubbing of fingers	HP:0040282	ORPHA:2032
7015	TERT	HP:0100759	Clubbing of fingers	50%	OMIM:178500
7015	TERT	HP:0033367	Orthodeoxia	HP:0040283	ORPHA:2032
7015	TERT	HP:0010628	Facial palsy	HP:0040283	ORPHA:2495
7015	TERT	HP:0010624	Aplastic/hypoplastic toenail	HP:0040282	ORPHA:1775
7015	TERT	HP:0004808	Acute myeloid leukemia	-	OMIM:601626
7015	TERT	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:1775
7015	TERT	HP:0001067	Neurofibroma	HP:0040283	ORPHA:2495
7015	TERT	HP:0001063	Acrocyanosis	HP:0040282	ORPHA:2032
7015	TERT	HP:0001065	Striae distensae	HP:0040282	ORPHA:1501
7015	TERT	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:1775
7015	TERT	HP:0002354	Memory impairment	HP:0040283	ORPHA:2495
7015	TERT	HP:0002315	Headache	HP:0040282	ORPHA:2495
7015	TERT	HP:0100648	Neoplasm of the tongue	HP:0040284	ORPHA:2495
7015	TERT	HP:0100661	Trigeminal neuralgia	HP:0040283	ORPHA:2495
7015	TERT	HP:0200037	Skin vesicle	HP:0040283	ORPHA:1775
7015	TERT	HP:0010828	Hemifacial spasm	HP:0040284	ORPHA:2495
7015	TERT	HP:0100670	Coarse metaphyseal trabecularization	HP:0040282	ORPHA:1775
7015	TERT	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:1775
7015	TERT	HP:0200042	Skin ulcer	HP:0040282	ORPHA:1775
7015	TERT	HP:0001085	Papilledema	HP:0040283	ORPHA:2495
7015	TERT	HP:0003621	Juvenile onset	1/6	OMIM:613989
7015	TERT	HP:0005528	Bone marrow hypocellularity	-	OMIM:614742
7015	TERT	HP:0005528	Bone marrow hypocellularity	-	OMIM:127550
7015	TERT	HP:0005528	Bone marrow hypocellularity	-	OMIM:613989
7015	TERT	HP:0005528	Bone marrow hypocellularity	-	OMIM:609135
7015	TERT	HP:0005528	Bone marrow hypocellularity	HP:0040281	ORPHA:88
7015	TERT	HP:0005528	Bone marrow hypocellularity	HP:0040283	ORPHA:3322
7015	TERT	HP:0005528	Bone marrow hypocellularity	HP:0040282	ORPHA:1775
7015	TERT	HP:0030521	Bitemporal hemianopia	HP:0040282	ORPHA:2495
7015	TERT	HP:0005518	Increased mean corpuscular volume	11/12	OMIM:127550
7015	TERT	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:2495
7015	TERT	HP:0030532	Visual acuity test abnormality	HP:0040283	ORPHA:2495
7015	TERT	HP:0001962	Palpitations	HP:0040282	ORPHA:1501
7015	TERT	HP:0000618	Blindness	HP:0040284	ORPHA:2495
7015	TERT	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:3322
7015	TERT	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:1775
7015	TERT	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040282	ORPHA:1501
7015	TERT	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2495
7015	TERT	HP:0000600	Abnormality of the pharynx	HP:0040282	ORPHA:1775
7015	TERT	HP:0001903	Anemia	HP:0040280	ORPHA:88
7015	TERT	HP:0001903	Anemia	18/134	OMIM:614742
7015	TERT	HP:0001903	Anemia	HP:0040282	ORPHA:3322
7015	TERT	HP:0001903	Anemia	6/12	OMIM:127550
7015	TERT	HP:0001903	Anemia	HP:0040281	ORPHA:1775
7015	TERT	HP:0001915	Aplastic anemia	7/7	OMIM:614742
7015	TERT	HP:0001915	Aplastic anemia	-	OMIM:127550
7015	TERT	HP:0001915	Aplastic anemia	1/6	OMIM:613989
7015	TERT	HP:0001915	Aplastic anemia	HP:0040280	OMIM:609135
7015	TERT	HP:0011358	Generalized hypopigmentation of hair	HP:0040282	ORPHA:3322
7015	TERT	HP:0011364	White hair	HP:0040283	ORPHA:1775
7015	TERT	HP:0012691	Focal T2 hypointense thalamic lesion	HP:0040282	ORPHA:2495
7015	TERT	HP:0000679	Taurodontia	HP:0040282	ORPHA:1775
7015	TERT	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:2495
7015	TERT	HP:0000670	Carious teeth	-	OMIM:127550
7015	TERT	HP:0000670	Carious teeth	HP:0040282	ORPHA:1775
7015	TERT	HP:0000668	Hypodontia	HP:0040282	ORPHA:1775
7015	TERT	HP:0004324	Increased body weight	HP:0040282	ORPHA:1501
7015	TERT	HP:0004322	Short stature	HP:0040281	ORPHA:3322
7015	TERT	HP:0004322	Short stature	1/6	OMIM:613989
7015	TERT	HP:0004322	Short stature	HP:0040282	ORPHA:1775
7015	TERT	HP:0004334	Dermal atrophy	-	OMIM:127550
7015	TERT	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:3322
7015	TERT	HP:0031950	Usual interstitial pneumonia	34/57	OMIM:614742
7015	TERT	HP:0031950	Usual interstitial pneumonia	HP:0040282	ORPHA:2032
7015	TERT	HP:0031950	Usual interstitial pneumonia	-	OMIM:178500
7015	TERT	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:2495
7015	TERT	HP:0000802	Impotence	HP:0040282	ORPHA:2495
7015	TERT	HP:0100010	Spinal meningioma	HP:0040283	ORPHA:2495
7015	TERT	HP:0100013	Neoplasm of the breast	HP:0040283	ORPHA:618
7015	TERT	HP:0100009	Intracranial meningioma	HP:0040281	ORPHA:2495
7015	TERT	HP:0012735	Cough	-	OMIM:178500
7015	TERT	HP:0012735	Cough	HP:0040282	ORPHA:2032
7015	TERT	HP:0012735	Cough	44/51	OMIM:614742
7015	TERT	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:1775
7015	TERT	HP:0012733	Macule	HP:0040281	ORPHA:1775
7015	TERT	HP:0000737	Irritability	HP:0040282	ORPHA:1501
7015	TERT	HP:0000739	Anxiety	HP:0040282	ORPHA:1501
7015	TERT	HP:0000712	Emotional lability	HP:0040284	ORPHA:2495
7015	TERT	HP:0000704	Periodontitis	HP:0040282	ORPHA:1775
7015	TERT	HP:0030591	Abnormal kinetic perimetry test	HP:0040283	ORPHA:2495
7015	TERT	HP:0011462	Young adult onset	2/6	OMIM:613989
7015	TERT	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:2495
7015	TERT	HP:0003110	Abnormality of urine homeostasis	HP:0040283	ORPHA:1501
7015	TERT	HP:0003118	Increased circulating cortisol level	HP:0040282	ORPHA:1501
7015	TERT	HP:0030766	Ear pain	HP:0040284	ORPHA:2495
7015	TERT	HP:0004408	Abnormality of the sense of smell	HP:0040283	ORPHA:2495
7015	TERT	HP:0000859	Increased circulating aldosterone concentration	HP:0040282	ORPHA:1501
7015	TERT	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:2495
7015	TERT	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:1501
7015	TERT	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1775
7015	TERT	HP:0000822	Hypertension	HP:0040282	ORPHA:1501
7015	TERT	HP:0030878	Abnormality on pulmonary function testing	HP:0040284	ORPHA:2495
7015	TERT	HP:0045026	Abnormal mediastinum morphology	HP:0040284	ORPHA:2495
7015	TERT	HP:0045051	Decreased DLCO	-	OMIM:178500
7015	TERT	HP:0045051	Decreased DLCO	-	OMIM:614742
7015	TERT	HP:0045051	Decreased DLCO	HP:0040282	ORPHA:2032
7015	TERT	HP:0030830	Crackles	59/71	OMIM:614742
7015	TERT	HP:0030830	Crackles	HP:0040282	ORPHA:2032
7015	TERT	HP:0000998	Hypertrichosis	HP:0040282	ORPHA:1501
7015	TERT	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1501
7015	TERT	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1775
7015	TERT	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:613989
7015	TERT	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:1775
7015	TERT	HP:0000958	Dry skin	HP:0040282	ORPHA:618
7015	TERT	HP:0000939	Osteoporosis	3/6	OMIM:613989
7015	TERT	HP:0000939	Osteoporosis	-	OMIM:127550
7015	TERT	HP:0000939	Osteoporosis	HP:0040283	ORPHA:1775
7015	TERT	HP:0000938	Osteopenia	35/134	OMIM:614742
7015	TERT	HP:0008070	Sparse hair	-	OMIM:127550
7015	TERT	HP:0008070	Sparse hair	HP:0040282	ORPHA:1775
7015	TERT	HP:0040171	Decreased serum testosterone concentration	HP:0040282	ORPHA:2495
7015	TERT	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1775
7015	TERT	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:1775
7015	TERT	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:2495
7015	TERT	HP:0007715	Weak extraocular muscles	HP:0040283	ORPHA:2495
7015	TERT	HP:0012285	Abnormal hypothalamus physiology	HP:0040283	ORPHA:2495
7015	TERT	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:618
7015	TERT	HP:0001596	Alopecia	-	OMIM:127550
7015	TERT	HP:0001596	Alopecia	HP:0040283	ORPHA:1775
7015	TERT	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:2495
7015	TERT	HP:0031413	Short telomere length	17/17	OMIM:614742
7015	TERT	HP:0030057	Autoimmune antibody positivity	-	ORPHA:88
7015	TERT	HP:0030078	Lung adenocarcinoma	HP:0040282	ORPHA:1501
7015	TERT	HP:0012227	Urethral stricture	1/6	OMIM:613989
7015	TERT	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2495
7015	TERT	HP:0000252	Microcephaly	HP:0040281	ORPHA:3322
7015	TERT	HP:0000252	Microcephaly	-	OMIM:613989
7015	TERT	HP:0002875	Exertional dyspnea	-	OMIM:178500
7015	TERT	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:2032
7015	TERT	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:1775
7015	TERT	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:618
7015	TERT	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:88
7015	TERT	HP:0002861	Melanoma	-	OMIM:615134
7015	TERT	HP:0002861	Melanoma	HP:0040281	ORPHA:618
7015	TERT	HP:0002870	Obstructive sleep apnea	11/134	OMIM:614742
7015	TERT	HP:0002863	Myelodysplasia	-	OMIM:614742
7015	TERT	HP:0002863	Myelodysplasia	-	OMIM:127550
7015	TERT	HP:0031364	Ecchymosis	HP:0040283	ORPHA:88
7015	TERT	HP:0001508	Failure to thrive	-	OMIM:613989
7015	TERT	HP:0001508	Failure to thrive	HP:0040281	ORPHA:3322
7015	TERT	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3322
7015	TERT	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1775
7015	TERT	HP:0001513	Obesity	HP:0040283	ORPHA:2495
7015	TERT	HP:0012378	Fatigue	HP:0040282	ORPHA:2032
7015	TERT	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040281	ORPHA:2032
7015	TERT	HP:0006515	Interstitial pneumonitis	1/12	OMIM:127550
7015	TERT	HP:0006519	Alveolar cell carcinoma	-	OMIM:178500
7015	TERT	HP:0006520	Progressive pulmonary function impairment	HP:0040284	ORPHA:2495
7015	TERT	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:2495
7015	TERT	HP:0002900	Hypokalemia	HP:0040282	ORPHA:1501
7015	TERT	HP:0006480	Premature loss of teeth	-	OMIM:127550
7015	TERT	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1775
7015	TERT	HP:0000360	Tinnitus	HP:0040284	ORPHA:2495
7015	TERT	HP:0012324	Myeloid leukemia	-	OMIM:614742
7015	TERT	HP:0001644	Dilated cardiomyopathy	-	OMIM:613989
7015	TERT	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:1775
7015	TERT	HP:0007924	Slow decrease in visual acuity	HP:0040283	ORPHA:2495
7015	TERT	HP:0031631	Subpleural honeycombing	HP:0040282	ORPHA:2032
7015	TERT	HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion	-	OMIM:178500
7015	TERT	HP:0000499	Abnormal eyelash morphology	HP:0040283	ORPHA:1775
7015	TERT	HP:0000498	Blepharitis	HP:0040283	ORPHA:1775
7015	TERT	HP:0005374	Cellular immunodeficiency	HP:0040282	ORPHA:1775
7015	TERT	HP:0011133	Increased sensitivity to ionizing radiation	HP:0040281	ORPHA:2495
7015	TERT	HP:0000488	Retinopathy	HP:0040283	ORPHA:618
7015	TERT	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1775
7015	TERT	HP:0000421	Epistaxis	HP:0040283	ORPHA:88
7015	TERT	HP:0006753	Neoplasm of the stomach	HP:0040283	ORPHA:618
7015	TERT	HP:0006739	Squamous cell carcinoma of the skin	-	OMIM:127550
7015	TERT	HP:0006744	Adrenocortical carcinoma	HP:0040280	ORPHA:1501
7015	TERT	HP:0012505	Enlarged pituitary gland	HP:0040283	ORPHA:2495
7015	TERT	HP:0000518	Cataract	HP:0040283	ORPHA:1775
7015	TERT	HP:0000520	Proptosis	HP:0040284	ORPHA:2495
7015	TERT	HP:0001824	Weight loss	HP:0040282	ORPHA:1501
7015	TERT	HP:0001807	Ridged nail	-	OMIM:127550
7015	TERT	HP:0001803	Nail pits	-	OMIM:127550
7015	TERT	HP:0030348	Increased circulating androgen concentration	HP:0040282	ORPHA:1501
7015	TERT	HP:0030344	Decreased circulating luteinizing hormone level	HP:0040282	ORPHA:2495
7015	TERT	HP:0030341	Decreased circulating follicle stimulating hormone concentration	HP:0040282	ORPHA:2495
7015	TERT	HP:0001888	Decreased total lymphocyte count	-	OMIM:127550
7015	TERT	HP:0000573	Retinal hemorrhage	HP:0040283	ORPHA:88
7015	TERT	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:88
7015	TERT	HP:0000534	Abnormal eyebrow morphology	HP:0040283	ORPHA:1775
7015	TERT	HP:0001881	Abnormal leukocyte morphology	HP:0040283	ORPHA:3322
7015	TERT	HP:0001882	Decreased total leukocyte count	7/12	OMIM:127550
7015	TERT	HP:0001882	Decreased total leukocyte count	-	OMIM:613989
7015	TERT	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:1775
7015	TERT	HP:0001873	Thrombocytopenia	2/6	OMIM:613989
7015	TERT	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:88
7015	TERT	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:3322
7015	TERT	HP:0001873	Thrombocytopenia	7/12	OMIM:127550
7015	TERT	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:1775
7015	TERT	HP:0001876	Pancytopenia	1/6	OMIM:613989
7015	TERT	HP:0001876	Pancytopenia	HP:0040282	ORPHA:88
7015	TERT	HP:0001876	Pancytopenia	1/5	OMIM:614742
7015	TERT	HP:0001875	Decreased total neutrophil count	1/6	OMIM:613989
7015	TERT	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:88
7018	TF	HP:0001392	Abnormality of the liver	-	OMIM:209300
7018	TF	HP:0001369	Arthritis	HP:0040283	ORPHA:1195
7018	TF	HP:0000007	Autosomal recessive inheritance	-	OMIM:209300
7018	TF	HP:0002719	Recurrent infections	HP:0040282	ORPHA:1195
7018	TF	HP:0001931	Hypochromic anemia	-	OMIM:209300
7018	TF	HP:0001903	Anemia	HP:0040281	ORPHA:1195
7018	TF	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1195
7018	TF	HP:0012239	Atransferrinemia	-	OMIM:209300
7018	TF	HP:0001626	Abnormality of the cardiovascular system	HP:0040283	ORPHA:1195
7018	TF	HP:0001635	Congestive heart failure	-	OMIM:209300
7018	TF	HP:0001732	Abnormality of the pancreas	HP:0040283	ORPHA:1195
7019	TFAM	HP:0001254	Lethargy	1/2	OMIM:617156
7019	TFAM	HP:0001396	Cholestasis	2/2	OMIM:617156
7019	TFAM	HP:0001399	Hepatic failure	2/2	OMIM:617156
7019	TFAM	HP:0001394	Cirrhosis	1/2	OMIM:617156
7019	TFAM	HP:0000007	Autosomal recessive inheritance	-	OMIM:617156
7019	TFAM	HP:0001414	Microvesicular hepatic steatosis	1/1	OMIM:617156
7019	TFAM	HP:0002098	Respiratory distress	1/2	OMIM:617156
7019	TFAM	HP:0003676	Progressive	-	OMIM:617156
7019	TFAM	HP:0003623	Neonatal onset	2/2	OMIM:617156
7019	TFAM	HP:0003607	4-hydroxyphenylacetic aciduria	1/2	OMIM:617156
7019	TFAM	HP:0001943	Hypoglycemia	2/2	OMIM:617156
7019	TFAM	HP:0003073	Hypoalbuminemia	1/2	OMIM:617156
7019	TFAM	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1/1	OMIM:617156
7019	TFAM	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/2	OMIM:617156
7019	TFAM	HP:0003161	4-Hydroxyphenylpyruvic aciduria	1/2	OMIM:617156
7019	TFAM	HP:0003235	Hypermethioninemia	2/2	OMIM:617156
7019	TFAM	HP:0003231	Hypertyrosinemia	2/2	OMIM:617156
7019	TFAM	HP:0003270	Abdominal distention	1/2	OMIM:617156
7019	TFAM	HP:0000952	Jaundice	1/2	OMIM:617156
7019	TFAM	HP:0001561	Polyhydramnios	1/2	OMIM:617156
7019	TFAM	HP:0001522	Death in infancy	2/2	OMIM:617156
7019	TFAM	HP:0001541	Ascites	2/2	OMIM:617156
7019	TFAM	HP:0001508	Failure to thrive	1/2	OMIM:617156
7019	TFAM	HP:0001511	Intrauterine growth retardation	2/2	OMIM:617156
7019	TFAM	HP:0002910	Elevated circulating hepatic transaminase concentration	2/2	OMIM:617156
7019	TFAM	HP:0002908	Conjugated hyperbilirubinemia	1/2	OMIM:617156
7019	TFAM	HP:0002904	Hyperbilirubinemia	1/2	OMIM:617156
7019	TFAM	HP:0001635	Congestive heart failure	1/2	OMIM:617156
7020	TFAP2A	HP:0001177	Preaxial hand polydactyly	-	OMIM:113620
7020	TFAP2A	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:1297
7020	TFAP2A	HP:0008606	Supraauricular pit	-	OMIM:113620
7020	TFAP2A	HP:0008606	Supraauricular pit	HP:0040281	ORPHA:1297
7020	TFAP2A	HP:0008551	Microtia	-	OMIM:113620
7020	TFAP2A	HP:0008559	Hypoplastic superior helix	-	OMIM:113620
7020	TFAP2A	HP:0025247	Dermoid cyst	-	OMIM:113620
7020	TFAP2A	HP:0001256	Intellectual disability, mild	-	OMIM:113620
7020	TFAP2A	HP:0001250	Seizure	-	OMIM:113620
7020	TFAP2A	HP:0002558	Supernumerary nipple	-	OMIM:113620
7020	TFAP2A	HP:0000047	Hypospadias	-	OMIM:113620
7020	TFAP2A	HP:0000028	Cryptorchidism	-	OMIM:113620
7020	TFAP2A	HP:0008897	Postnatal growth retardation	2/6	OMIM:113620
7020	TFAP2A	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:1297
7020	TFAP2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:113620
7020	TFAP2A	HP:0000196	Lower lip pit	-	OMIM:113620
7020	TFAP2A	HP:0000164	Abnormality of the dentition	-	OMIM:113620
7020	TFAP2A	HP:0000175	Cleft palate	-	OMIM:113620
7020	TFAP2A	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1297
7020	TFAP2A	HP:0000107	Renal cyst	-	OMIM:113620
7020	TFAP2A	HP:0000104	Renal agenesis	-	OMIM:113620
7020	TFAP2A	HP:0000104	Renal agenesis	HP:0040283	ORPHA:1297
7020	TFAP2A	HP:0002021	Pyloric stenosis	-	OMIM:113620
7020	TFAP2A	HP:0002020	Gastroesophageal reflux	-	OMIM:113620
7020	TFAP2A	HP:0002002	Deep philtrum	HP:0040281	ORPHA:1297
7020	TFAP2A	HP:0003307	Hyperlordosis	-	OMIM:113620
7020	TFAP2A	HP:0004785	Malrotation of colon	-	OMIM:113620
7020	TFAP2A	HP:0009623	Proximal placement of thumb	-	OMIM:113620
7020	TFAP2A	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:1297
7020	TFAP2A	HP:0002162	Low posterior hairline	-	OMIM:113620
7020	TFAP2A	HP:0010566	Hamartoma	-	OMIM:113620
7020	TFAP2A	HP:0010517	Ectopic thymus tissue	-	OMIM:113620
7020	TFAP2A	HP:0002216	Premature graying of hair	2/6	OMIM:113620
7020	TFAP2A	HP:0002216	Premature graying of hair	HP:0040282	ORPHA:1297
7020	TFAP2A	HP:0002211	White forelock	-	OMIM:113620
7020	TFAP2A	HP:0100798	Fingernail dysplasia	HP:0040282	ORPHA:1297
7020	TFAP2A	HP:0010628	Facial palsy	1/6	OMIM:113620
7020	TFAP2A	HP:0001057	Aplasia cutis congenita	-	OMIM:113620
7020	TFAP2A	HP:0001028	Hemangioma	HP:0040281	ORPHA:1297
7020	TFAP2A	HP:0002335	Agenesis of cerebellar vermis	-	OMIM:113620
7020	TFAP2A	HP:0009804	Tooth agenesis	HP:0040282	ORPHA:1297
7020	TFAP2A	HP:0009794	Branchial anomaly	-	OMIM:113620
7020	TFAP2A	HP:0010751	Dimple chin	2/6	OMIM:113620
7020	TFAP2A	HP:0009778	Short thumb	-	OMIM:113620
7020	TFAP2A	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:113620
7020	TFAP2A	HP:0000639	Nystagmus	-	OMIM:113620
7020	TFAP2A	HP:0000612	Iris coloboma	3/6	OMIM:113620
7020	TFAP2A	HP:0000612	Iris coloboma	HP:0040282	ORPHA:1297
7020	TFAP2A	HP:0000691	Microdontia	HP:0040282	ORPHA:1297
7020	TFAP2A	HP:0011323	Cleft of chin	1/6	OMIM:113620
7020	TFAP2A	HP:0004322	Short stature	HP:0040282	ORPHA:1297
7020	TFAP2A	HP:0004334	Dermal atrophy	-	OMIM:113620
7020	TFAP2A	HP:0004467	Preauricular pit	3/6	OMIM:113620
7020	TFAP2A	HP:0004467	Preauricular pit	HP:0040281	ORPHA:1297
7020	TFAP2A	HP:0004464	Postauricular pit	-	OMIM:113620
7020	TFAP2A	HP:0004464	Postauricular pit	HP:0040281	ORPHA:1297
7020	TFAP2A	HP:0100335	Non-midline cleft of the upper lip	HP:0040282	ORPHA:1297
7020	TFAP2A	HP:0100268	Upper lip pit	HP:0040283	ORPHA:1297
7020	TFAP2A	HP:0000987	Atypical scarring of skin	-	OMIM:113620
7020	TFAP2A	HP:0000987	Atypical scarring of skin	HP:0040281	ORPHA:1297
7020	TFAP2A	HP:0000954	Single transverse palmar crease	-	OMIM:113620
7020	TFAP2A	HP:0008070	Sparse hair	1/6	OMIM:113620
7020	TFAP2A	HP:0000272	Malar flattening	-	OMIM:113620
7020	TFAP2A	HP:0000268	Dolichocephaly	-	OMIM:113620
7020	TFAP2A	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:1297
7020	TFAP2A	HP:0002808	Kyphosis	-	OMIM:113620
7020	TFAP2A	HP:0000252	Microcephaly	-	OMIM:113620
7020	TFAP2A	HP:0000218	High palate	HP:0040282	ORPHA:1297
7020	TFAP2A	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:1297
7020	TFAP2A	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:1297
7020	TFAP2A	HP:0000204	Cleft upper lip	-	OMIM:113620
7020	TFAP2A	HP:0001511	Intrauterine growth retardation	3/6	OMIM:113620
7020	TFAP2A	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1297
7020	TFAP2A	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:1297
7020	TFAP2A	HP:0000396	Overfolded helix	-	OMIM:113620
7020	TFAP2A	HP:0001611	Hypernasal speech	-	OMIM:113620
7020	TFAP2A	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:1297
7020	TFAP2A	HP:0000365	Hearing impairment	5/6	OMIM:113620
7020	TFAP2A	HP:0000358	Posteriorly rotated ears	-	OMIM:113620
7020	TFAP2A	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:1297
7020	TFAP2A	HP:0000369	Low-set ears	-	OMIM:113620
7020	TFAP2A	HP:0000350	Small forehead	-	OMIM:113620
7020	TFAP2A	HP:0000347	Micrognathia	-	OMIM:113620
7020	TFAP2A	HP:0000316	Hypertelorism	-	OMIM:113620
7020	TFAP2A	HP:0002987	Elbow flexion contracture	-	OMIM:113620
7020	TFAP2A	HP:0006610	Wide intermamillary distance	-	OMIM:113620
7020	TFAP2A	HP:0000407	Sensorineural hearing impairment	-	OMIM:113620
7020	TFAP2A	HP:0000405	Conductive hearing impairment	-	OMIM:113620
7020	TFAP2A	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:1297
7020	TFAP2A	HP:0005280	Depressed nasal bridge	-	OMIM:113620
7020	TFAP2A	HP:0000486	Strabismus	HP:0040283	ORPHA:1297
7020	TFAP2A	HP:0000486	Strabismus	-	OMIM:113620
7020	TFAP2A	HP:0000480	Retinal coloboma	2/6	OMIM:113620
7020	TFAP2A	HP:0000482	Microcornea	HP:0040283	ORPHA:1297
7020	TFAP2A	HP:0000455	Broad nasal tip	-	OMIM:113620
7020	TFAP2A	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:1297
7020	TFAP2A	HP:0000470	Short neck	-	OMIM:113620
7020	TFAP2A	HP:0000420	Short nasal septum	-	OMIM:113620
7020	TFAP2A	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:1297
7020	TFAP2A	HP:0005473	Fusion of middle ear ossicles	-	OMIM:113620
7020	TFAP2A	HP:0000518	Cataract	-	OMIM:113620
7020	TFAP2A	HP:0000518	Cataract	HP:0040283	ORPHA:1297
7020	TFAP2A	HP:0000528	Anophthalmia	-	OMIM:113620
7020	TFAP2A	HP:0000506	Telecanthus	-	OMIM:113620
7020	TFAP2A	HP:0000508	Ptosis	HP:0040283	ORPHA:1297
7020	TFAP2A	HP:0000508	Ptosis	-	OMIM:113620
7020	TFAP2A	HP:0001804	Hypoplastic fingernail	-	OMIM:113620
7020	TFAP2A	HP:0000582	Upslanted palpebral fissure	-	OMIM:113620
7020	TFAP2A	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:1297
7020	TFAP2A	HP:0000579	Nasolacrimal duct obstruction	-	OMIM:113620
7020	TFAP2A	HP:0000579	Nasolacrimal duct obstruction	HP:0040282	ORPHA:1297
7020	TFAP2A	HP:0000589	Coloboma	HP:0040281	ORPHA:1297
7020	TFAP2A	HP:0000568	Microphthalmia	4/6	OMIM:113620
7020	TFAP2A	HP:0000545	Myopia	-	OMIM:113620
7021	TFAP2B	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:46627
7021	TFAP2B	HP:0025234	Parasomnia	-	OMIM:169100
7021	TFAP2B	HP:0001256	Intellectual disability, mild	-	OMIM:169100
7021	TFAP2B	HP:0001263	Global developmental delay	-	OMIM:169100
7021	TFAP2B	HP:0001263	Global developmental delay	HP:0040283	ORPHA:46627
7021	TFAP2B	HP:0002558	Supernumerary nipple	HP:0040283	ORPHA:46627
7021	TFAP2B	HP:0002553	Highly arched eyebrow	-	OMIM:169100
7021	TFAP2B	HP:0006159	Mesoaxial hand polydactyly	HP:0040282	ORPHA:46627
7021	TFAP2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:617035
7021	TFAP2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
7021	TFAP2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:169100
7021	TFAP2B	HP:0006349	Agenesis of permanent teeth	HP:0040283	ORPHA:46627
7021	TFAP2B	HP:0006335	Persistence of primary teeth	HP:0040283	ORPHA:46627
7021	TFAP2B	HP:0003577	Congenital onset	6/6	OMIM:617035
7021	TFAP2B	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:46627
7021	TFAP2B	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:169100
7021	TFAP2B	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:46627
7021	TFAP2B	HP:0004209	Clinodactyly of the 5th finger	0/6	OMIM:617035
7021	TFAP2B	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
7021	TFAP2B	HP:0004220	Short middle phalanx of the 5th finger	HP:0040282	ORPHA:46627
7021	TFAP2B	HP:0004218	Symphalangism of the 5th finger	HP:0040283	ORPHA:46627
7021	TFAP2B	HP:0010112	Mesoaxial foot polydactyly	HP:0040283	ORPHA:46627
7021	TFAP2B	HP:0004467	Preauricular pit	-	OMIM:187500
7021	TFAP2B	HP:0009244	Distal/middle symphalangism of 5th finger	-	OMIM:169100
7021	TFAP2B	HP:0000272	Malar flattening	HP:0040281	ORPHA:46627
7021	TFAP2B	HP:0000269	Prominent occiput	HP:0040283	ORPHA:46627
7021	TFAP2B	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:46627
7021	TFAP2B	HP:0000207	Triangular mouth	HP:0040281	ORPHA:46627
7021	TFAP2B	HP:0000207	Triangular mouth	-	OMIM:169100
7021	TFAP2B	HP:0000365	Hearing impairment	HP:0040283	ORPHA:46627
7021	TFAP2B	HP:0000369	Low-set ears	-	OMIM:169100
7021	TFAP2B	HP:0000337	Broad forehead	-	OMIM:169100
7021	TFAP2B	HP:0000337	Broad forehead	-	OMIM:187500
7021	TFAP2B	HP:0000316	Hypertelorism	-	OMIM:169100
7021	TFAP2B	HP:0000316	Hypertelorism	HP:0040281	ORPHA:46627
7021	TFAP2B	HP:0001643	Patent ductus arteriosus	-	OMIM:169100
7021	TFAP2B	HP:0001643	Patent ductus arteriosus	HP:0040281	ORPHA:46627
7021	TFAP2B	HP:0001643	Patent ductus arteriosus	6/6	OMIM:617035
7021	TFAP2B	HP:0000322	Short philtrum	-	OMIM:169100
7021	TFAP2B	HP:0000322	Short philtrum	HP:0040281	ORPHA:46627
7021	TFAP2B	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:46627
7021	TFAP2B	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
7021	TFAP2B	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:46627
7021	TFAP2B	HP:0000486	Strabismus	-	OMIM:169100
7021	TFAP2B	HP:0000486	Strabismus	HP:0040283	ORPHA:46627
7021	TFAP2B	HP:0012471	Thick vermilion border	HP:0040281	ORPHA:46627
7021	TFAP2B	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:46627
7021	TFAP2B	HP:0000455	Broad nasal tip	-	OMIM:169100
7021	TFAP2B	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:46627
7021	TFAP2B	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:46627
7021	TFAP2B	HP:0000411	Protruding ear	-	OMIM:169100
7021	TFAP2B	HP:0000520	Proptosis	-	OMIM:187500
7021	TFAP2B	HP:0000508	Ptosis	-	OMIM:169100
7021	TFAP2B	HP:0000508	Ptosis	HP:0040281	ORPHA:46627
7021	TFAP2B	HP:0000574	Thick eyebrow	-	OMIM:169100
7021	TFAP2B	HP:0000545	Myopia	HP:0040283	ORPHA:46627
7025	NR2F1	HP:0001182	Tapered finger	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0001182	Tapered finger	2/6	OMIM:615722
7025	NR2F1	HP:0025100	Abnormal hippocampus morphology	HP:0040284	ORPHA:401777
7025	NR2F1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
7025	NR2F1	HP:0001123	Visual field defect	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0001123	Visual field defect	-	OMIM:615722
7025	NR2F1	HP:0009909	Uplifted earlobe	1/6	OMIM:615722
7025	NR2F1	HP:0001250	Seizure	HP:0040282	ORPHA:401777
7025	NR2F1	HP:0001252	Hypotonia	HP:0040282	ORPHA:401777
7025	NR2F1	HP:0001252	Hypotonia	2/6	OMIM:615722
7025	NR2F1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:401777
7025	NR2F1	HP:0001249	Intellectual disability	4/4	OMIM:615722
7025	NR2F1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:401777
7025	NR2F1	HP:0001263	Global developmental delay	19/20	OMIM:615722
7025	NR2F1	HP:0001257	Spasticity	HP:0040284	ORPHA:401777
7025	NR2F1	HP:0001257	Spasticity	1/6	OMIM:615722
7025	NR2F1	HP:0008762	Repetitive compulsive behavior	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0001212	Prominent fingertip pads	1/6	OMIM:615722
7025	NR2F1	HP:0001344	Absent speech	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
7025	NR2F1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
7025	NR2F1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615722
7025	NR2F1	HP:0000154	Wide mouth	1/6	OMIM:615722
7025	NR2F1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
7025	NR2F1	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:401777
7025	NR2F1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
7025	NR2F1	HP:0007663	Reduced visual acuity	6/6	OMIM:615722
7025	NR2F1	HP:0002750	Delayed skeletal maturation	HP:0040284	ORPHA:401777
7025	NR2F1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:401777
7025	NR2F1	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0100704	Cerebral visual impairment	5/6	OMIM:615722
7025	NR2F1	HP:0002217	Slow-growing hair	1/6	OMIM:615722
7025	NR2F1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0011968	Feeding difficulties	2/6	OMIM:615722
7025	NR2F1	HP:0003621	Juvenile onset	8/19	OMIM:180100
7025	NR2F1	HP:0000639	Nystagmus	HP:0040284	ORPHA:401777
7025	NR2F1	HP:0000639	Nystagmus	4/6	OMIM:615722
7025	NR2F1	HP:0000646	Amblyopia	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:401777
7025	NR2F1	HP:0000648	Optic atrophy	15/20	OMIM:615722
7025	NR2F1	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0000662	Nyctalopia	26/28	OMIM:180100
7025	NR2F1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:401777
7025	NR2F1	HP:0004322	Short stature	HP:0040284	ORPHA:401777
7025	NR2F1	HP:0000717	Autism	1/6	OMIM:615722
7025	NR2F1	HP:0000729	Autistic behavior	HP:0040282	ORPHA:401777
7025	NR2F1	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0000722	Compulsive behaviors	1/6	OMIM:615722
7025	NR2F1	HP:0011463	Childhood onset	3/19	OMIM:180100
7025	NR2F1	HP:0011462	Young adult onset	8/19	OMIM:180100
7025	NR2F1	HP:0003194	Short nasal bridge	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0000286	Epicanthus	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0000286	Epicanthus	1/6	OMIM:615722
7025	NR2F1	HP:0000278	Retrognathia	1/6	OMIM:615722
7025	NR2F1	HP:0007766	Optic disc hypoplasia	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
7025	NR2F1	HP:0000218	High palate	1/6	OMIM:615722
7025	NR2F1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
7025	NR2F1	HP:0011039	Abnormal helix morphology	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0000395	Prominent antihelix	1/6	OMIM:615722
7025	NR2F1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0000307	Pointed chin	1/6	OMIM:615722
7025	NR2F1	HP:0000486	Strabismus	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0000486	Strabismus	6/6	OMIM:615722
7025	NR2F1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0000463	Anteverted nares	1/6	OMIM:615722
7025	NR2F1	HP:0012448	Delayed myelination	HP:0040284	ORPHA:401777
7025	NR2F1	HP:0000411	Protruding ear	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0000411	Protruding ear	2/6	OMIM:615722
7025	NR2F1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0000426	Prominent nasal bridge	1/6	OMIM:615722
7025	NR2F1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
7025	NR2F1	HP:0011261	Darwin tubercle of helix	1/6	OMIM:615722
7025	NR2F1	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0000582	Upslanted palpebral fissure	1/6	OMIM:615722
7025	NR2F1	HP:0000575	Scotoma	5/18	OMIM:180100
7025	NR2F1	HP:0000577	Exotropia	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0000563	Keratoconus	HP:0040284	ORPHA:401777
7025	NR2F1	HP:0000565	Esotropia	HP:0040283	ORPHA:401777
7025	NR2F1	HP:0000540	Hypermetropia	HP:0040284	ORPHA:401777
7025	NR2F1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
7025	NR2F1	HP:0000543	Optic disc pallor	5/6	OMIM:615722
7025	NR2F1	HP:0000545	Myopia	-	OMIM:180100
7025	NR2F1	HP:0000545	Myopia	HP:0040284	ORPHA:401777
7026	NR2F2	HP:0000062	Ambiguous genitalia	3/3	OMIM:618901
7026	NR2F2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618901
7026	NR2F2	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
7026	NR2F2	HP:0000006	Autosomal dominant inheritance	-	OMIM:615779
7026	NR2F2	HP:0003577	Congenital onset	10/10	OMIM:615779
7026	NR2F2	HP:0100779	Urogenital sinus anomaly	1/3	OMIM:618901
7026	NR2F2	HP:0032092	Left ventricular outflow tract obstruction	2/10	OMIM:615779
7026	NR2F2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
7026	NR2F2	HP:0004383	Hypoplastic left heart	1/3	OMIM:618901
7026	NR2F2	HP:0004383	Hypoplastic left heart	1/10	OMIM:615779
7026	NR2F2	HP:0009112	Aplasia of the left hemidiaphragm	1/3	OMIM:618901
7026	NR2F2	HP:0004467	Preauricular pit	-	OMIM:187500
7026	NR2F2	HP:0030088	Increased serum testosterone level	3/3	OMIM:618901
7026	NR2F2	HP:0000337	Broad forehead	-	OMIM:187500
7026	NR2F2	HP:0001684	Secundum atrial septal defect	1/3	OMIM:618901
7026	NR2F2	HP:0001680	Coarctation of aorta	1/10	OMIM:615779
7026	NR2F2	HP:0001650	Aortic valve stenosis	1/10	OMIM:615779
7026	NR2F2	HP:0001629	Ventricular septal defect	1/3	OMIM:618901
7026	NR2F2	HP:0001629	Ventricular septal defect	1/10	OMIM:615779
7026	NR2F2	HP:0001636	Tetralogy of Fallot	1/10	OMIM:615779
7026	NR2F2	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
7026	NR2F2	HP:0006695	Atrioventricular canal defect	6/10	OMIM:615779
7026	NR2F2	HP:0000520	Proptosis	-	OMIM:187500
7030	TFE3	HP:0001182	Tapered finger	1/2	OMIM:301066
7030	TFE3	HP:0010864	Intellectual disability, severe	5/5	OMIM:301066
7030	TFE3	HP:0001250	Seizure	4/5	OMIM:301066
7030	TFE3	HP:0001252	Hypotonia	2/2	OMIM:301066
7030	TFE3	HP:0001249	Intellectual disability	2/2	OMIM:301066
7030	TFE3	HP:0001263	Global developmental delay	12/12	OMIM:301066
7030	TFE3	HP:0001230	Broad metacarpals	1/2	OMIM:301066
7030	TFE3	HP:0001377	Limited elbow extension	1/4	OMIM:301066
7030	TFE3	HP:0001385	Hip dysplasia	1/5	OMIM:301066
7030	TFE3	HP:0012016	EEG with occipital focal spikes	1/2	OMIM:301066
7030	TFE3	HP:0012017	EEG with parietal focal spikes	1/2	OMIM:301066
7030	TFE3	HP:0012014	EEG with central focal spikes	1/2	OMIM:301066
7030	TFE3	HP:0031165	Multifocal seizures	1/2	OMIM:301066
7030	TFE3	HP:0001344	Absent speech	2/2	OMIM:301066
7030	TFE3	HP:0000194	Open mouth	1/2	OMIM:301066
7030	TFE3	HP:0000175	Cleft palate	1/5	OMIM:301066
7030	TFE3	HP:0410030	Cleft lip	1/5	OMIM:301066
7030	TFE3	HP:0500041	Myopic astigmatism	1/2	OMIM:301066
7030	TFE3	HP:0001442	Typified by somatic mosaicism	-	OMIM:300854
7030	TFE3	HP:0001433	Hepatosplenomegaly	1/2	OMIM:301066
7030	TFE3	HP:0001417	X-linked inheritance	-	OMIM:301066
7030	TFE3	HP:0003307	Hyperlordosis	2/5	OMIM:301066
7030	TFE3	HP:0011803	Bifid nose	1/5	OMIM:301066
7030	TFE3	HP:0002240	Hepatomegaly	1/2	OMIM:301066
7030	TFE3	HP:0002360	Sleep abnormality	2/2	OMIM:301066
7030	TFE3	HP:0002376	Developmental regression	1/5	OMIM:301066
7030	TFE3	HP:0001010	Hypopigmentation of the skin	6/7	OMIM:301066
7030	TFE3	HP:0001081	Cholelithiasis	2/2	OMIM:301066
7030	TFE3	HP:0001082	Cholecystitis	1/2	OMIM:301066
7030	TFE3	HP:0005584	Renal cell carcinoma	-	OMIM:300854
7030	TFE3	HP:0000646	Amblyopia	1/2	OMIM:301066
7030	TFE3	HP:0001943	Hypoglycemia	2/5	OMIM:301066
7030	TFE3	HP:0000664	Synophrys	1/2	OMIM:301066
7030	TFE3	HP:0000733	Motor stereotypy	2/2	OMIM:301066
7030	TFE3	HP:0000736	Short attention span	1/2	OMIM:301066
7030	TFE3	HP:0000750	Delayed speech and language development	-	OMIM:301066
7030	TFE3	HP:0000718	Aggressive behavior	1/2	OMIM:301066
7030	TFE3	HP:0000729	Autistic behavior	1/2	OMIM:301066
7030	TFE3	HP:0000885	Broad ribs	1/2	OMIM:301066
7030	TFE3	HP:0000826	Precocious puberty	1/2	OMIM:301066
7030	TFE3	HP:0000956	Acanthosis nigricans	1/2	OMIM:301066
7030	TFE3	HP:0000286	Epicanthus	1/2	OMIM:301066
7030	TFE3	HP:0000280	Coarse facial features	6/7	OMIM:301066
7030	TFE3	HP:0000293	Full cheeks	1/2	OMIM:301066
7030	TFE3	HP:0000256	Macrocephaly	1/2	OMIM:301066
7030	TFE3	HP:0000272	Malar flattening	1/2	OMIM:301066
7030	TFE3	HP:0002827	Hip dislocation	1/5	OMIM:301066
7030	TFE3	HP:0006371	Broad long bone diaphyses	1/2	OMIM:301066
7030	TFE3	HP:0000232	Everted lower lip vermilion	2/2	OMIM:301066
7030	TFE3	HP:0002857	Genu valgum	1/4	OMIM:301066
7030	TFE3	HP:0001537	Umbilical hernia	3/7	OMIM:301066
7030	TFE3	HP:0001513	Obesity	1/2	OMIM:301066
7030	TFE3	HP:0000358	Posteriorly rotated ears	1/2	OMIM:301066
7030	TFE3	HP:0000316	Hypertelorism	4/5	OMIM:301066
7030	TFE3	HP:0000403	Recurrent otitis media	2/2	OMIM:301066
7030	TFE3	HP:0005280	Depressed nasal bridge	3/5	OMIM:301066
7030	TFE3	HP:0000486	Strabismus	3/7	OMIM:301066
7030	TFE3	HP:0012471	Thick vermilion border	2/5	OMIM:301066
7030	TFE3	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:301066
7030	TFE3	HP:0012450	Chronic constipation	1/2	OMIM:301066
7030	TFE3	HP:0001763	Pes planus	3/5	OMIM:301066
7030	TFE3	HP:0001762	Talipes equinovarus	1/5	OMIM:301066
7030	TFE3	HP:0000508	Ptosis	1/2	OMIM:301066
7030	TFE3	HP:0000545	Myopia	1/2	OMIM:301066
7036	TFR2	HP:0001394	Cirrhosis	2/7	OMIM:604250
7036	TFR2	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:604250
7036	TFR2	HP:0001369	Arthritis	-	OMIM:604250
7036	TFR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:604250
7036	TFR2	HP:0000141	Amenorrhea	-	OMIM:604250
7036	TFR2	HP:0003452	Increased circulating iron concentration	-	OMIM:604250
7036	TFR2	HP:0001903	Anemia	-	OMIM:604250
7036	TFR2	HP:0000802	Impotence	-	OMIM:604250
7036	TFR2	HP:0003281	Increased circulating ferritin concentration	7/7	OMIM:604250
7036	TFR2	HP:0000979	Purpura	-	OMIM:604250
7036	TFR2	HP:0000953	Hyperpigmentation of the skin	4/7	OMIM:604250
7036	TFR2	HP:0012378	Fatigue	-	OMIM:604250
7036	TFR2	HP:0002910	Elevated circulating hepatic transaminase concentration	5/7	OMIM:604250
7036	TFR2	HP:0001638	Cardiomyopathy	-	OMIM:604250
7036	TFR2	HP:0012463	Elevated transferrin saturation	7/7	OMIM:604250
7036	TFR2	HP:0001888	Decreased total lymphocyte count	-	OMIM:604250
7036	TFR2	HP:0001875	Decreased total neutrophil count	-	OMIM:604250
7037	TFRC	HP:0100806	Sepsis	5/14	OMIM:616740
7037	TFRC	HP:0001287	Meningitis	2/14	OMIM:616740
7037	TFRC	HP:0000007	Autosomal recessive inheritance	-	OMIM:616740
7037	TFRC	HP:0002721	Immunodeficiency	-	OMIM:616740
7037	TFRC	HP:0002028	Chronic diarrhea	10/14	OMIM:616740
7037	TFRC	HP:0004854	Intermittent thrombocytopenia	4/4	OMIM:616740
7037	TFRC	HP:0009098	Chronic oral candidiasis	1/14	OMIM:616740
7037	TFRC	HP:0001903	Anemia	2/4	OMIM:616740
7037	TFRC	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:616740
7037	TFRC	HP:0001508	Failure to thrive	4/14	OMIM:616740
7037	TFRC	HP:0005425	Recurrent sinopulmonary infections	11/14	OMIM:616740
7037	TFRC	HP:0000509	Conjunctivitis	3/14	OMIM:616740
7037	TFRC	HP:0001875	Decreased total neutrophil count	-	OMIM:616740
7038	TG	HP:0001254	Lethargy	HP:0040283	ORPHA:95716
7038	TG	HP:0001252	Hypotonia	HP:0040283	ORPHA:95716
7038	TG	HP:0001249	Intellectual disability	-	OMIM:274700
7038	TG	HP:0001249	Intellectual disability	HP:0040283	ORPHA:95716
7038	TG	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:95716
7038	TG	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:95716
7038	TG	HP:0008828	Delayed proximal femoral epiphyseal ossification	HP:0040282	ORPHA:95716
7038	TG	HP:0000007	Autosomal recessive inheritance	-	OMIM:274700
7038	TG	HP:0025483	Abnormal circulating thyroglobulin concentration	HP:0040283	ORPHA:95716
7038	TG	HP:0025482	Positive perchlorate discharge test	HP:0040283	ORPHA:95716
7038	TG	HP:0000158	Macroglossia	HP:0040283	ORPHA:95716
7038	TG	HP:0031219	Reduced radioactive iodine uptake	HP:0040283	ORPHA:95716
7038	TG	HP:0031220	Increased radioactive iodine uptake	HP:0040283	ORPHA:95716
7038	TG	HP:0002019	Constipation	HP:0040282	ORPHA:95716
7038	TG	HP:0002045	Hypothermia	HP:0040283	ORPHA:95716
7038	TG	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:95716
7038	TG	HP:0008223	Compensated hypothyroidism	-	OMIM:274700
7038	TG	HP:0008263	Thyroid defect in oxidation and organification of iodide	HP:0040282	ORPHA:95716
7038	TG	HP:0100646	Thyroiditis	-	OMIM:608175
7038	TG	HP:0011437	Maternal autoimmune disease	-	ORPHA:95716
7038	TG	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:95716
7038	TG	HP:0004491	Large posterior fontanelle	HP:0040282	ORPHA:95716
7038	TG	HP:0000851	Congenital hypothyroidism	HP:0040282	ORPHA:95716
7038	TG	HP:0000853	Goiter	-	OMIM:274700
7038	TG	HP:0000853	Goiter	HP:0040282	ORPHA:95716
7038	TG	HP:0003265	Neonatal hyperbilirubinemia	HP:0040283	ORPHA:95716
7038	TG	HP:0000282	Facial edema	HP:0040283	ORPHA:95716
7038	TG	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:95716
7038	TG	HP:0002890	Thyroid carcinoma	-	OMIM:274700
7038	TG	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:95716
7038	TG	HP:0031507	Decreased circulating T4 concentration	HP:0040281	ORPHA:95716
7038	TG	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:95716
7038	TG	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	HP:0040281	ORPHA:95716
7038	TG	HP:0001662	Bradycardia	HP:0040283	ORPHA:95716
7038	TG	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:95716
7038	TG	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:95716
7038	TG	HP:0012559	Increased T3/T4 ratio	-	OMIM:274700
7039	TGFA	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:99798
7039	TGFA	HP:0006344	Abnormal primary molar morphology	HP:0040283	ORPHA:99798
7039	TGFA	HP:0006336	Short dental root	HP:0040282	ORPHA:99798
7039	TGFA	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:99798
7039	TGFA	HP:0006289	Agenesis of central incisor	HP:0040282	ORPHA:99798
7039	TGFA	HP:0000696	Delayed eruption of permanent teeth	HP:0040282	ORPHA:99798
7039	TGFA	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:99798
7039	TGFA	HP:0000679	Taurodontia	HP:0040283	ORPHA:99798
7039	TGFA	HP:0000677	Oligodontia	HP:0040280	ORPHA:99798
7039	TGFA	HP:0000691	Microdontia	HP:0040282	ORPHA:99798
7039	TGFA	HP:0000690	Agenesis of maxillary lateral incisor	HP:0040282	ORPHA:99798
7039	TGFA	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:99798
7039	TGFA	HP:0000685	Hypoplasia of teeth	HP:0040283	ORPHA:99798
7039	TGFA	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:99798
7039	TGFA	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:99798
7039	TGFA	HP:0011078	Abnormality of canine	HP:0040283	ORPHA:99798
7039	TGFA	HP:0011053	Agenesis of mandibular premolar	HP:0040283	ORPHA:99798
7039	TGFA	HP:0011051	Agenesis of premolar	HP:0040282	ORPHA:99798
7039	TGFA	HP:0011056	Agenesis of first permanent molar tooth	HP:0040282	ORPHA:99798
7039	TGFA	HP:0005216	Impaired mastication	HP:0040281	ORPHA:99798
7039	TGFA	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:99798
7039	TGFA	HP:0012472	Eclabion	HP:0040283	ORPHA:99798
7039	TGFA	HP:0011219	Short face	HP:0040283	ORPHA:99798
7040	TGFB1	HP:0410151	Eosinophilic infiltration of the esophagus	1/3	OMIM:618213
7040	TGFB1	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
7040	TGFB1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7040	TGFB1	HP:0001298	Encephalopathy	-	OMIM:618213
7040	TGFB1	HP:0001293	Cranial nerve compression	-	OMIM:131300
7040	TGFB1	HP:0001290	Generalized hypotonia	-	OMIM:618213
7040	TGFB1	HP:0001252	Hypotonia	2/7	OMIM:615777
7040	TGFB1	HP:0001251	Ataxia	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0001249	Intellectual disability	5/7	OMIM:615777
7040	TGFB1	HP:0002595	Ileus	3/71	OMIM:219700
7040	TGFB1	HP:0001263	Global developmental delay	-	OMIM:618213
7040	TGFB1	HP:0001263	Global developmental delay	-	OMIM:615777
7040	TGFB1	HP:0001257	Spasticity	1/3	OMIM:618213
7040	TGFB1	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
7040	TGFB1	HP:0002570	Steatorrhea	3/21	OMIM:219700
7040	TGFB1	HP:0032359	Decreased forced expiratory flow 25-75%	15/21	OMIM:219700
7040	TGFB1	HP:0031095	Abnormal humerus morphology	HP:0040281	ORPHA:1328
7040	TGFB1	HP:0002521	Hypsarrhythmia	2/3	OMIM:618213
7040	TGFB1	HP:0002515	Waddling gait	54/102	OMIM:131300
7040	TGFB1	HP:0002515	Waddling gait	HP:0040282	ORPHA:1328
7040	TGFB1	HP:6000725	Salty tasting skin	21/49	OMIM:219700
7040	TGFB1	HP:0032341	Reduced forced vital capacity	5/21	OMIM:219700
7040	TGFB1	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
7040	TGFB1	HP:0032342	Reduced forced expiratory volume in one second	26/39	OMIM:219700
7040	TGFB1	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
7040	TGFB1	HP:0001394	Cirrhosis	2/71	OMIM:219700
7040	TGFB1	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
7040	TGFB1	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:1328
7040	TGFB1	HP:0001382	Joint hypermobility	-	OMIM:615777
7040	TGFB1	HP:0000016	Urinary retention	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7040	TGFB1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7040	TGFB1	HP:0007552	Abnormal subcutaneous fat tissue distribution	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7040	TGFB1	HP:0001324	Muscle weakness	40/96	OMIM:131300
7040	TGFB1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:1328
7040	TGFB1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7040	TGFB1	HP:0002673	Coxa valga	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618213
7040	TGFB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:219700
7040	TGFB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7040	TGFB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7040	TGFB1	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:1328
7040	TGFB1	HP:0002653	Bone pain	HP:0040281	ORPHA:1328
7040	TGFB1	HP:0002650	Scoliosis	12/14	OMIM:131300
7040	TGFB1	HP:0002650	Scoliosis	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7040	TGFB1	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0002613	Biliary cirrhosis	-	OMIM:219700
7040	TGFB1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7040	TGFB1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7040	TGFB1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7040	TGFB1	HP:0000175	Cleft palate	2/7	OMIM:615777
7040	TGFB1	HP:0000135	Hypogonadism	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
7040	TGFB1	HP:0001433	Hepatosplenomegaly	2/71	OMIM:219700
7040	TGFB1	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
7040	TGFB1	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
7040	TGFB1	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
7040	TGFB1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
7040	TGFB1	HP:0002035	Rectal prolapse	-	OMIM:219700
7040	TGFB1	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
7040	TGFB1	HP:0002014	Diarrhea	15/71	OMIM:219700
7040	TGFB1	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0002099	Asthma	-	OMIM:219700
7040	TGFB1	HP:0002099	Asthma	HP:0040283	ORPHA:586
7040	TGFB1	HP:6000100	Hyperpolarized transepithelial nasal potential difference	-	OMIM:219700
7040	TGFB1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:618213
7040	TGFB1	HP:0002039	Anorexia	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0002059	Cerebral atrophy	3/3	OMIM:618213
7040	TGFB1	HP:0003388	Easy fatigability	36/76	OMIM:131300
7040	TGFB1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7040	TGFB1	HP:0100582	Nasal polyposis	1/21	OMIM:219700
7040	TGFB1	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
7040	TGFB1	HP:0002150	Hypercalciuria	-	OMIM:219700
7040	TGFB1	HP:0002110	Bronchiectasis	106/111	OMIM:219700
7040	TGFB1	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
7040	TGFB1	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
7040	TGFB1	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
7040	TGFB1	HP:0002105	Hemoptysis	3/21	OMIM:219700
7040	TGFB1	HP:0002188	Delayed CNS myelination	-	OMIM:618213
7040	TGFB1	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0033256	Pancolitis	1/3	OMIM:618213
7040	TGFB1	HP:0003593	Infantile onset	6/7	OMIM:219700
7040	TGFB1	HP:0002240	Hepatomegaly	1/71	OMIM:219700
7040	TGFB1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
7040	TGFB1	HP:0002205	Recurrent respiratory infections	1/3	OMIM:618213
7040	TGFB1	HP:0100774	Hyperostosis	HP:0040281	ORPHA:1328
7040	TGFB1	HP:0100759	Clubbing of fingers	9/21	OMIM:219700
7040	TGFB1	HP:0033351	Candida esophagitis	1/3	OMIM:618213
7040	TGFB1	HP:0010628	Facial palsy	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0003510	Severe short stature	7/7	OMIM:615777
7040	TGFB1	HP:0002384	Focal impaired awareness seizure	2/3	OMIM:618213
7040	TGFB1	HP:0002315	Headache	-	OMIM:131300
7040	TGFB1	HP:0004976	Knee dislocation	6/7	OMIM:615777
7040	TGFB1	HP:0025085	Bloody diarrhea	3/3	OMIM:618213
7040	TGFB1	HP:0009803	Short phalanx of finger	-	OMIM:615777
7040	TGFB1	HP:0009789	Perianal abscess	1/3	OMIM:618213
7040	TGFB1	HP:0032170	Severe varicella zoster infection	1/3	OMIM:618213
7040	TGFB1	HP:0009763	Limb pain	63/92	OMIM:131300
7040	TGFB1	HP:0003621	Juvenile onset	-	OMIM:131300
7040	TGFB1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7040	TGFB1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7040	TGFB1	HP:6001056	Out-toeing	-	OMIM:131300
7040	TGFB1	HP:0000651	Diplopia	-	OMIM:131300
7040	TGFB1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0001974	Increased total leukocyte count	1/3	OMIM:618213
7040	TGFB1	HP:0001944	Dehydration	HP:0040283	OMIM:219700
7040	TGFB1	HP:0001956	Truncal obesity	2/7	OMIM:615777
7040	TGFB1	HP:0001931	Hypochromic anemia	1/3	OMIM:618213
7040	TGFB1	HP:0001903	Anemia	HP:0040283	OMIM:131300
7040	TGFB1	HP:0001903	Anemia	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0010049	Short metacarpal	-	OMIM:615777
7040	TGFB1	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0000678	Dental crowding	-	OMIM:615777
7040	TGFB1	HP:0000670	Carious teeth	-	OMIM:131300
7040	TGFB1	HP:0000670	Carious teeth	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0011304	Broad thumb	2/7	OMIM:615777
7040	TGFB1	HP:0000668	Hypodontia	-	OMIM:615777
7040	TGFB1	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0000664	Synophrys	-	OMIM:615777
7040	TGFB1	HP:0004326	Cachexia	HP:0040281	ORPHA:1328
7040	TGFB1	HP:0004396	Poor appetite	-	OMIM:131300
7040	TGFB1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7040	TGFB1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7040	TGFB1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7040	TGFB1	HP:0003026	Short long bone	7/7	OMIM:615777
7040	TGFB1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7040	TGFB1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7040	TGFB1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7040	TGFB1	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7040	TGFB1	HP:0000739	Anxiety	HP:0040283	ORPHA:586
7040	TGFB1	HP:0000750	Delayed speech and language development	-	OMIM:615777
7040	TGFB1	HP:0000716	Depression	HP:0040283	ORPHA:586
7040	TGFB1	HP:0011463	Childhood onset	1/7	OMIM:219700
7040	TGFB1	HP:0011461	Fetal onset	7/7	OMIM:615777
7040	TGFB1	HP:0000774	Narrow chest	2/7	OMIM:615777
7040	TGFB1	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
7040	TGFB1	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
7040	TGFB1	HP:0004401	Meconium ileus	-	OMIM:219700
7040	TGFB1	HP:0000929	Abnormal skull morphology	HP:0040281	ORPHA:1328
7040	TGFB1	HP:0000925	Abnormality of the vertebral column	HP:0040281	ORPHA:1328
7040	TGFB1	HP:0000926	Platyspondyly	1/7	OMIM:615777
7040	TGFB1	HP:0003180	Flat acetabular roof	-	OMIM:615777
7040	TGFB1	HP:0004482	Relative macrocephaly	-	OMIM:615777
7040	TGFB1	HP:0005791	Cortical thickening of long bone diaphyses	HP:0040281	ORPHA:1328
7040	TGFB1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7040	TGFB1	HP:0000823	Delayed puberty	-	OMIM:131300
7040	TGFB1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0040071	Abnormal morphology of ulna	HP:0040281	ORPHA:1328
7040	TGFB1	HP:0000894	Short clavicles	-	OMIM:615777
7040	TGFB1	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
7040	TGFB1	HP:0003237	Increased circulating IgG concentration	1/3	OMIM:618213
7040	TGFB1	HP:0003212	Increased circulating IgE concentration	1/3	OMIM:618213
7040	TGFB1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7040	TGFB1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:1328
7040	TGFB1	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
7040	TGFB1	HP:0003251	Male infertility	-	OMIM:219700
7040	TGFB1	HP:0003251	Male infertility	HP:0040282	ORPHA:586
7040	TGFB1	HP:0100255	Metaphyseal dysplasia	HP:0040282	ORPHA:1328
7040	TGFB1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7040	TGFB1	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
7040	TGFB1	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
7040	TGFB1	HP:0000940	Abnormal diaphysis morphology	HP:0040281	ORPHA:1328
7040	TGFB1	HP:0000286	Epicanthus	1/7	OMIM:615777
7040	TGFB1	HP:0000280	Coarse facial features	2/7	OMIM:615777
7040	TGFB1	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
7040	TGFB1	HP:0012236	Elevated sweat chloride	77/77	OMIM:219700
7040	TGFB1	HP:0002818	Abnormal morphology of the radius	HP:0040281	ORPHA:1328
7040	TGFB1	HP:0002827	Hip dislocation	3/7	OMIM:615777
7040	TGFB1	HP:0002823	Abnormal femur morphology	HP:0040281	ORPHA:1328
7040	TGFB1	HP:0002808	Kyphosis	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0000252	Microcephaly	-	OMIM:615777
7040	TGFB1	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
7040	TGFB1	HP:0002857	Genu valgum	-	OMIM:131300
7040	TGFB1	HP:0002857	Genu valgum	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0001533	Slender build	-	OMIM:131300
7040	TGFB1	HP:0001533	Slender build	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0001508	Failure to thrive	8/21	OMIM:219700
7040	TGFB1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
7040	TGFB1	HP:0001508	Failure to thrive	-	OMIM:618213
7040	TGFB1	HP:0031379	Abnormal T cell proliferation	-	OMIM:618213
7040	TGFB1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7040	TGFB1	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
7040	TGFB1	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:1328
7040	TGFB1	HP:0007807	Optic nerve compression	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0007807	Optic nerve compression	-	OMIM:131300
7040	TGFB1	HP:0012368	Flat face	7/7	OMIM:615777
7040	TGFB1	HP:0006538	Recurrent bronchopulmonary infections	-	OMIM:219700
7040	TGFB1	HP:0005218	Anoperineal fistula	1/3	OMIM:618213
7040	TGFB1	HP:0006528	Chronic lung disease	-	OMIM:219700
7040	TGFB1	HP:0006532	Recurrent pneumonia	8/21	OMIM:219700
7040	TGFB1	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
7040	TGFB1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7040	TGFB1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
7040	TGFB1	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
7040	TGFB1	HP:0000365	Hearing impairment	10/67	OMIM:131300
7040	TGFB1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0000343	Long philtrum	1/7	OMIM:615777
7040	TGFB1	HP:0011001	Increased bone mineral density	-	OMIM:131300
7040	TGFB1	HP:0032794	Myoclonic seizure	1/3	OMIM:618213
7040	TGFB1	HP:0001648	Cor pulmonale	1/7	OMIM:219700
7040	TGFB1	HP:0000311	Round face	2/7	OMIM:615777
7040	TGFB1	HP:0002992	Abnormal tibia morphology	HP:0040282	ORPHA:1328
7040	TGFB1	HP:0002970	Genu varum	-	OMIM:615777
7040	TGFB1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0000303	Mandibular prognathia	-	OMIM:131300
7040	TGFB1	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
7040	TGFB1	HP:0001738	Exocrine pancreatic insufficiency	11/27	OMIM:219700
7040	TGFB1	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
7040	TGFB1	HP:0001733	Pancreatitis	2/21	OMIM:219700
7040	TGFB1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7040	TGFB1	HP:0000470	Short neck	1/7	OMIM:615777
7040	TGFB1	HP:0011109	Chronic sinusitis	59/112	OMIM:219700
7040	TGFB1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7040	TGFB1	HP:0001763	Pes planus	1/7	OMIM:615777
7040	TGFB1	HP:0001763	Pes planus	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0005419	Decreased T cell activation	-	OMIM:618213
7040	TGFB1	HP:0005464	Craniofacial osteosclerosis	HP:0040281	ORPHA:1328
7040	TGFB1	HP:0001840	Metatarsus adductus	-	OMIM:615777
7040	TGFB1	HP:0000520	Proptosis	2/4	OMIM:131300
7040	TGFB1	HP:0000520	Proptosis	7/7	OMIM:615777
7040	TGFB1	HP:0000520	Proptosis	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0000501	Glaucoma	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0000592	Blue sclerae	2/7	OMIM:615777
7040	TGFB1	HP:0001894	Thrombocytosis	1/3	OMIM:618213
7040	TGFB1	HP:0012544	Elevated circulating aldolase concentration	HP:0040281	ORPHA:1328
7040	TGFB1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7040	TGFB1	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:1328
7040	TGFB1	HP:0012514	Lower limb pain	4/4	OMIM:131300
7042	TGFB2	HP:0009901	Crumpled ear	90/119	OMIM:121050
7042	TGFB2	HP:0001181	Adducted thumb	42/90	OMIM:121050
7042	TGFB2	HP:0001166	Arachnodactyly	104/124	OMIM:121050
7042	TGFB2	HP:0001166	Arachnodactyly	124/197	OMIM:154700
7042	TGFB2	HP:0001166	Arachnodactyly	34/37	OMIM:182212
7042	TGFB2	HP:0001166	Arachnodactyly	6/15	OMIM:208050
7042	TGFB2	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:60030
7042	TGFB2	HP:0001166	Arachnodactyly	35/66	OMIM:614816
7042	TGFB2	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0410151	Eosinophilic infiltration of the esophagus	HP:0040283	ORPHA:60030
7042	TGFB2	HP:0410151	Eosinophilic infiltration of the esophagus	-	OMIM:614816
7042	TGFB2	HP:0003745	Sporadic	-	OMIM:182212
7042	TGFB2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
7042	TGFB2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7042	TGFB2	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
7042	TGFB2	HP:0001297	Stroke	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0001293	Cranial nerve compression	-	OMIM:131300
7042	TGFB2	HP:0001290	Generalized hypotonia	-	OMIM:208050
7042	TGFB2	HP:0001290	Generalized hypotonia	-	OMIM:182212
7042	TGFB2	HP:0001270	Motor delay	-	OMIM:121050
7042	TGFB2	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
7042	TGFB2	HP:0001252	Hypotonia	2/7	OMIM:615777
7042	TGFB2	HP:0001252	Hypotonia	26/37	OMIM:182212
7042	TGFB2	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
7042	TGFB2	HP:0001249	Intellectual disability	5/7	OMIM:615777
7042	TGFB2	HP:0001249	Intellectual disability	-	OMIM:182212
7042	TGFB2	HP:0001263	Global developmental delay	-	OMIM:615777
7042	TGFB2	HP:0001263	Global developmental delay	-	OMIM:182212
7042	TGFB2	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
7042	TGFB2	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
7042	TGFB2	HP:0002515	Waddling gait	54/102	OMIM:131300
7042	TGFB2	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
7042	TGFB2	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
7042	TGFB2	HP:0000098	Tall stature	-	OMIM:154700
7042	TGFB2	HP:0000098	Tall stature	HP:0040282	ORPHA:60030
7042	TGFB2	HP:0000098	Tall stature	33/59	OMIM:614816
7042	TGFB2	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0001377	Limited elbow extension	94/109	OMIM:121050
7042	TGFB2	HP:0001377	Limited elbow extension	29/199	OMIM:154700
7042	TGFB2	HP:0001371	Flexion contracture	-	OMIM:208050
7042	TGFB2	HP:0001371	Flexion contracture	-	OMIM:154700
7042	TGFB2	HP:0001373	Joint dislocation	HP:0040283	ORPHA:60030
7042	TGFB2	HP:0001382	Joint hypermobility	1/1	OMIM:130050
7042	TGFB2	HP:0001382	Joint hypermobility	43/74	OMIM:614816
7042	TGFB2	HP:0001382	Joint hypermobility	12/14	OMIM:208050
7042	TGFB2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:60030
7042	TGFB2	HP:0001382	Joint hypermobility	11/53	OMIM:154700
7042	TGFB2	HP:0001382	Joint hypermobility	-	OMIM:615777
7042	TGFB2	HP:0001382	Joint hypermobility	31/47	OMIM:182212
7042	TGFB2	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0000023	Inguinal hernia	11/11	OMIM:130050
7042	TGFB2	HP:0000023	Inguinal hernia	26/42	OMIM:614816
7042	TGFB2	HP:0000023	Inguinal hernia	8/15	OMIM:208050
7042	TGFB2	HP:0000023	Inguinal hernia	19/34	OMIM:182212
7042	TGFB2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:60030
7042	TGFB2	HP:0001363	Craniosynostosis	18/37	OMIM:182212
7042	TGFB2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7042	TGFB2	HP:0000028	Cryptorchidism	1/1	OMIM:130050
7042	TGFB2	HP:0000028	Cryptorchidism	1/13	OMIM:182212
7042	TGFB2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7042	TGFB2	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
7042	TGFB2	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
7042	TGFB2	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
7042	TGFB2	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
7042	TGFB2	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
7042	TGFB2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7042	TGFB2	HP:0001324	Muscle weakness	40/96	OMIM:131300
7042	TGFB2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7042	TGFB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
7042	TGFB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7042	TGFB2	HP:0000006	Autosomal dominant inheritance	20/20	OMIM:614816
7042	TGFB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
7042	TGFB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
7042	TGFB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
7042	TGFB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7042	TGFB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
7042	TGFB2	HP:0002650	Scoliosis	25/74	OMIM:614816
7042	TGFB2	HP:0002650	Scoliosis	16/53	OMIM:154700
7042	TGFB2	HP:0002650	Scoliosis	11/15	OMIM:121050
7042	TGFB2	HP:0002650	Scoliosis	12/14	OMIM:131300
7042	TGFB2	HP:0002650	Scoliosis	3/15	OMIM:208050
7042	TGFB2	HP:0002650	Scoliosis	HP:0040282	ORPHA:60030
7042	TGFB2	HP:0002650	Scoliosis	23/37	OMIM:182212
7042	TGFB2	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0002647	Aortic dissection	1/58	OMIM:154700
7042	TGFB2	HP:0002647	Aortic dissection	HP:0040281	ORPHA:60030
7042	TGFB2	HP:0002647	Aortic dissection	9/60	OMIM:614816
7042	TGFB2	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7042	TGFB2	HP:0002619	Varicose veins	-	OMIM:130050
7042	TGFB2	HP:0002619	Varicose veins	1/13	OMIM:614816
7042	TGFB2	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
7042	TGFB2	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
7042	TGFB2	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
7042	TGFB2	HP:0002616	Aortic root aneurysm	23/25	OMIM:614816
7042	TGFB2	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0002617	Vascular dilatation	HP:0040281	ORPHA:60030
7042	TGFB2	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
7042	TGFB2	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
7042	TGFB2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7042	TGFB2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7042	TGFB2	HP:0000189	Narrow palate	-	OMIM:182212
7042	TGFB2	HP:0000189	Narrow palate	-	OMIM:154700
7042	TGFB2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7042	TGFB2	HP:0000193	Bifid uvula	0/14	OMIM:208050
7042	TGFB2	HP:0000193	Bifid uvula	HP:0040282	ORPHA:60030
7042	TGFB2	HP:0000193	Bifid uvula	3/3	OMIM:614816
7042	TGFB2	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
7042	TGFB2	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0012151	Hemothorax	3/4	OMIM:130050
7042	TGFB2	HP:0000175	Cleft palate	HP:0040282	ORPHA:60030
7042	TGFB2	HP:0000175	Cleft palate	2/7	OMIM:615777
7042	TGFB2	HP:0000139	Uterine prolapse	-	OMIM:130050
7042	TGFB2	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
7042	TGFB2	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
7042	TGFB2	HP:0002705	High, narrow palate	10/15	OMIM:614816
7042	TGFB2	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
7042	TGFB2	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
7042	TGFB2	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
7042	TGFB2	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
7042	TGFB2	HP:0002036	Hiatus hernia	-	OMIM:208050
7042	TGFB2	HP:0002007	Frontal bossing	-	OMIM:121050
7042	TGFB2	HP:0002007	Frontal bossing	-	OMIM:182212
7042	TGFB2	HP:0003302	Spondylolisthesis	-	OMIM:154700
7042	TGFB2	HP:0003302	Spondylolisthesis	2/22	OMIM:614816
7042	TGFB2	HP:0002099	Asthma	HP:0040282	ORPHA:60030
7042	TGFB2	HP:0002097	Emphysema	8/9	OMIM:130050
7042	TGFB2	HP:0002097	Emphysema	HP:0040283	OMIM:154700
7042	TGFB2	HP:0002097	Emphysema	2/13	OMIM:614816
7042	TGFB2	HP:0030961	Microspherophakia	2/53	OMIM:154700
7042	TGFB2	HP:0003388	Easy fatigability	36/76	OMIM:131300
7042	TGFB2	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
7042	TGFB2	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
7042	TGFB2	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
7042	TGFB2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7042	TGFB2	HP:0010499	Patellar subluxation	12/22	OMIM:121050
7042	TGFB2	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
7042	TGFB2	HP:0002140	Ischemic stroke	-	OMIM:208050
7042	TGFB2	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
7042	TGFB2	HP:0002108	Spontaneous pneumothorax	HP:0040283	ORPHA:60030
7042	TGFB2	HP:0002107	Pneumothorax	2/2	OMIM:130050
7042	TGFB2	HP:0002107	Pneumothorax	6/53	OMIM:154700
7042	TGFB2	HP:0002107	Pneumothorax	1/17	OMIM:614816
7042	TGFB2	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0002105	Hemoptysis	6/10	OMIM:130050
7042	TGFB2	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
7042	TGFB2	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:60030
7042	TGFB2	HP:0003593	Infantile onset	5/16	OMIM:208050
7042	TGFB2	HP:0003577	Congenital onset	5/5	OMIM:121050
7042	TGFB2	HP:0003577	Congenital onset	12/26	OMIM:208050
7042	TGFB2	HP:0100718	Uterine rupture	-	OMIM:130050
7042	TGFB2	HP:0100718	Uterine rupture	HP:0040281	ORPHA:60030
7042	TGFB2	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
7042	TGFB2	HP:0004872	Incisional hernia	-	OMIM:154700
7042	TGFB2	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
7042	TGFB2	HP:0100775	Dural ectasia	112/140	OMIM:154700
7042	TGFB2	HP:0100775	Dural ectasia	9/24	OMIM:614816
7042	TGFB2	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0100749	Chest pain	1/2	OMIM:130050
7042	TGFB2	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
7042	TGFB2	HP:0002293	Alopecia of scalp	-	OMIM:130050
7042	TGFB2	HP:0034671	Knee contracture	7/14	OMIM:121050
7042	TGFB2	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
7042	TGFB2	HP:0010648	Dermal translucency	3/3	OMIM:130050
7042	TGFB2	HP:0003510	Severe short stature	7/7	OMIM:615777
7042	TGFB2	HP:0007099	Chiari type I malformation	-	OMIM:182212
7042	TGFB2	HP:0025019	Arterial rupture	-	OMIM:130050
7042	TGFB2	HP:0001065	Striae distensae	11/53	OMIM:154700
7042	TGFB2	HP:0001065	Striae distensae	HP:0040282	ORPHA:60030
7042	TGFB2	HP:0001065	Striae distensae	24/70	OMIM:614816
7042	TGFB2	HP:0001030	Fragile skin	-	OMIM:130050
7042	TGFB2	HP:0001027	Soft, doughy skin	-	OMIM:208050
7042	TGFB2	HP:0002315	Headache	-	OMIM:131300
7042	TGFB2	HP:0004976	Knee dislocation	6/7	OMIM:615777
7042	TGFB2	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0100645	Cystocele	-	OMIM:130050
7042	TGFB2	HP:0010809	Broad uvula	2/15	OMIM:614816
7042	TGFB2	HP:0001073	Cigarette-paper scars	-	OMIM:130050
7042	TGFB2	HP:0009803	Short phalanx of finger	-	OMIM:615777
7042	TGFB2	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
7042	TGFB2	HP:0001083	Ectopia lentis	119/251	OMIM:154700
7042	TGFB2	HP:0001083	Ectopia lentis	0/27	OMIM:614816
7042	TGFB2	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
7042	TGFB2	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
7042	TGFB2	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
7042	TGFB2	HP:0009763	Limb pain	63/92	OMIM:131300
7042	TGFB2	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
7042	TGFB2	HP:0003623	Neonatal onset	3/16	OMIM:208050
7042	TGFB2	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
7042	TGFB2	HP:0004970	Ascending tubular aorta aneurysm	3/3	OMIM:614816
7042	TGFB2	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
7042	TGFB2	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
7042	TGFB2	HP:0003621	Juvenile onset	-	OMIM:131300
7042	TGFB2	HP:0003621	Juvenile onset	2/16	OMIM:208050
7042	TGFB2	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
7042	TGFB2	HP:0004944	Dilatation of the cerebral artery	0/7	OMIM:614816
7042	TGFB2	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
7042	TGFB2	HP:0004942	Aortic aneurysm	HP:0040281	ORPHA:60030
7042	TGFB2	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
7042	TGFB2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7042	TGFB2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7042	TGFB2	HP:6001056	Out-toeing	-	OMIM:131300
7042	TGFB2	HP:0000651	Diplopia	-	OMIM:131300
7042	TGFB2	HP:0001977	Abnormal thrombosis	-	OMIM:208050
7042	TGFB2	HP:0001956	Truncal obesity	2/7	OMIM:615777
7042	TGFB2	HP:0001903	Anemia	1/1	OMIM:130050
7042	TGFB2	HP:0001903	Anemia	HP:0040283	OMIM:131300
7042	TGFB2	HP:0010049	Short metacarpal	-	OMIM:615777
7042	TGFB2	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
7042	TGFB2	HP:0000678	Dental crowding	8/53	OMIM:154700
7042	TGFB2	HP:0000678	Dental crowding	-	OMIM:615777
7042	TGFB2	HP:0000689	Dental malocclusion	-	OMIM:182212
7042	TGFB2	HP:0000670	Carious teeth	-	OMIM:131300
7042	TGFB2	HP:0011304	Broad thumb	2/7	OMIM:615777
7042	TGFB2	HP:0000668	Hypodontia	-	OMIM:615777
7042	TGFB2	HP:0000664	Synophrys	-	OMIM:615777
7042	TGFB2	HP:0004322	Short stature	-	OMIM:130050
7042	TGFB2	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
7042	TGFB2	HP:0003088	Premature osteoarthritis	-	OMIM:154700
7042	TGFB2	HP:0003083	Dislocated radial head	5/37	OMIM:182212
7042	TGFB2	HP:0003066	Limited knee extension	38/45	OMIM:121050
7042	TGFB2	HP:0004396	Poor appetite	-	OMIM:131300
7042	TGFB2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7042	TGFB2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7042	TGFB2	HP:0003042	Elbow dislocation	1/12	OMIM:121050
7042	TGFB2	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
7042	TGFB2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7042	TGFB2	HP:0003026	Short long bone	7/7	OMIM:615777
7042	TGFB2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7042	TGFB2	HP:0005684	Distal arthrogryposis	-	OMIM:121050
7042	TGFB2	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
7042	TGFB2	HP:0000767	Pectus excavatum	2/14	OMIM:121050
7042	TGFB2	HP:0000767	Pectus excavatum	1/4	OMIM:130050
7042	TGFB2	HP:0000767	Pectus excavatum	3/15	OMIM:208050
7042	TGFB2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:60030
7042	TGFB2	HP:0000767	Pectus excavatum	44/146	OMIM:154700
7042	TGFB2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7042	TGFB2	HP:0000767	Pectus excavatum	-	OMIM:182212
7042	TGFB2	HP:0000766	Abnormal sternum morphology	16/31	OMIM:614816
7042	TGFB2	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0000768	Pectus carinatum	4/14	OMIM:121050
7042	TGFB2	HP:0000768	Pectus carinatum	2/15	OMIM:208050
7042	TGFB2	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:60030
7042	TGFB2	HP:0000768	Pectus carinatum	58/146	OMIM:154700
7042	TGFB2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7042	TGFB2	HP:0000768	Pectus carinatum	-	OMIM:182212
7042	TGFB2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7042	TGFB2	HP:0000750	Delayed speech and language development	-	OMIM:615777
7042	TGFB2	HP:0000704	Periodontitis	-	OMIM:130050
7042	TGFB2	HP:0011463	Childhood onset	1/16	OMIM:208050
7042	TGFB2	HP:0011462	Young adult onset	3/16	OMIM:208050
7042	TGFB2	HP:0011461	Fetal onset	7/7	OMIM:615777
7042	TGFB2	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
7042	TGFB2	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
7042	TGFB2	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
7042	TGFB2	HP:0000774	Narrow chest	2/7	OMIM:615777
7042	TGFB2	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
7042	TGFB2	HP:0004419	Recurrent thrombophlebitis	2/18	OMIM:614816
7042	TGFB2	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
7042	TGFB2	HP:0030799	Scaphocephaly	-	OMIM:121050
7042	TGFB2	HP:0003199	Decreased muscle mass	-	OMIM:154700
7042	TGFB2	HP:0000926	Platyspondyly	1/7	OMIM:615777
7042	TGFB2	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
7042	TGFB2	HP:0003179	Protrusio acetabuli	1/8	OMIM:614816
7042	TGFB2	HP:0003180	Flat acetabular roof	-	OMIM:615777
7042	TGFB2	HP:0004482	Relative macrocephaly	-	OMIM:615777
7042	TGFB2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7042	TGFB2	HP:0000883	Thin ribs	-	OMIM:182212
7042	TGFB2	HP:0000822	Hypertension	-	OMIM:208050
7042	TGFB2	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
7042	TGFB2	HP:0000823	Delayed puberty	-	OMIM:131300
7042	TGFB2	HP:0000895	Lateral clavicle hook	-	OMIM:182212
7042	TGFB2	HP:0000894	Short clavicles	-	OMIM:615777
7042	TGFB2	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
7042	TGFB2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7042	TGFB2	HP:0034391	Elbow contracture	10/14	OMIM:121050
7042	TGFB2	HP:0003273	Hip contracture	32/121	OMIM:121050
7042	TGFB2	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
7042	TGFB2	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
7042	TGFB2	HP:0000978	Bruising susceptibility	-	OMIM:208050
7042	TGFB2	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:60030
7042	TGFB2	HP:0000978	Bruising susceptibility	12/26	OMIM:614816
7042	TGFB2	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0000977	Soft skin	7/15	OMIM:208050
7042	TGFB2	HP:0000977	Soft skin	3/13	OMIM:614816
7042	TGFB2	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
7042	TGFB2	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
7042	TGFB2	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
7042	TGFB2	HP:0000974	Hyperextensible skin	2/15	OMIM:614816
7042	TGFB2	HP:0000973	Cutis laxa	5/14	OMIM:208050
7042	TGFB2	HP:0000973	Cutis laxa	0/13	OMIM:614816
7042	TGFB2	HP:0000987	Atypical scarring of skin	HP:0040282	ORPHA:60030
7042	TGFB2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7042	TGFB2	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
7042	TGFB2	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:60030
7042	TGFB2	HP:0000963	Thin skin	4/13	OMIM:208050
7042	TGFB2	HP:0000963	Thin skin	HP:0040283	ORPHA:60030
7042	TGFB2	HP:0000938	Osteopenia	-	OMIM:121050
7042	TGFB2	HP:0000938	Osteopenia	-	OMIM:182212
7042	TGFB2	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
7042	TGFB2	HP:0007720	Flat cornea	2/8	OMIM:614816
7042	TGFB2	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
7042	TGFB2	HP:0000286	Epicanthus	1/7	OMIM:615777
7042	TGFB2	HP:0025586	Hypertropia	8/573	OMIM:154700
7042	TGFB2	HP:0000280	Coarse facial features	2/7	OMIM:615777
7042	TGFB2	HP:0000278	Retrognathia	-	OMIM:154700
7042	TGFB2	HP:0000278	Retrognathia	13/28	OMIM:614816
7042	TGFB2	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0000260	Wide anterior fontanel	-	OMIM:182212
7042	TGFB2	HP:0000275	Narrow face	-	OMIM:154700
7042	TGFB2	HP:0000276	Long face	14/14	OMIM:208050
7042	TGFB2	HP:0000276	Long face	-	OMIM:154700
7042	TGFB2	HP:0000272	Malar flattening	9/14	OMIM:208050
7042	TGFB2	HP:0000272	Malar flattening	HP:0040282	ORPHA:60030
7042	TGFB2	HP:0000272	Malar flattening	31/53	OMIM:154700
7042	TGFB2	HP:0000272	Malar flattening	0/13	OMIM:614816
7042	TGFB2	HP:0000268	Dolichocephaly	-	OMIM:121050
7042	TGFB2	HP:0000268	Dolichocephaly	36/53	OMIM:154700
7042	TGFB2	HP:0000268	Dolichocephaly	28/37	OMIM:182212
7042	TGFB2	HP:0000268	Dolichocephaly	1/3	OMIM:614816
7042	TGFB2	HP:0005136	Mitral annular calcification	-	OMIM:154700
7042	TGFB2	HP:0005116	Arterial tortuosity	HP:0040281	ORPHA:60030
7042	TGFB2	HP:0005116	Arterial tortuosity	11/18	OMIM:614816
7042	TGFB2	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0002816	Genu recurvatum	-	OMIM:182212
7042	TGFB2	HP:0002816	Genu recurvatum	-	OMIM:154700
7042	TGFB2	HP:0002827	Hip dislocation	3/7	OMIM:615777
7042	TGFB2	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
7042	TGFB2	HP:0000244	Brachyturricephaly	-	OMIM:182212
7042	TGFB2	HP:0000238	Hydrocephalus	13/37	OMIM:182212
7042	TGFB2	HP:0000252	Microcephaly	-	OMIM:615777
7042	TGFB2	HP:0000252	Microcephaly	6/37	OMIM:182212
7042	TGFB2	HP:0000248	Brachycephaly	-	OMIM:121050
7042	TGFB2	HP:0000218	High palate	44/73	OMIM:614816
7042	TGFB2	HP:0000218	High palate	34/53	OMIM:154700
7042	TGFB2	HP:0000218	High palate	30/102	OMIM:121050
7042	TGFB2	HP:0000218	High palate	5/13	OMIM:208050
7042	TGFB2	HP:0000218	High palate	30/37	OMIM:182212
7042	TGFB2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
7042	TGFB2	HP:0000233	Thin vermilion border	-	OMIM:130050
7042	TGFB2	HP:0030009	Cervical insufficiency	-	OMIM:130050
7042	TGFB2	HP:0002857	Genu valgum	-	OMIM:131300
7042	TGFB2	HP:0002857	Genu valgum	4/37	OMIM:182212
7042	TGFB2	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
7042	TGFB2	HP:0001537	Umbilical hernia	-	OMIM:208050
7042	TGFB2	HP:0001537	Umbilical hernia	13/37	OMIM:182212
7042	TGFB2	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:60030
7042	TGFB2	HP:0001533	Slender build	-	OMIM:131300
7042	TGFB2	HP:0031364	Ecchymosis	-	OMIM:130050
7042	TGFB2	HP:0001519	Disproportionate tall stature	-	OMIM:121050
7042	TGFB2	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
7042	TGFB2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7042	TGFB2	HP:0007807	Optic nerve compression	-	OMIM:131300
7042	TGFB2	HP:0007800	Increased axial length of the globe	-	OMIM:154700
7042	TGFB2	HP:0012385	Camptodactyly	86/110	OMIM:121050
7042	TGFB2	HP:0012385	Camptodactyly	19/53	OMIM:154700
7042	TGFB2	HP:0012385	Camptodactyly	24/37	OMIM:182212
7042	TGFB2	HP:0000387	Absent earlobe	-	OMIM:130050
7042	TGFB2	HP:0012368	Flat face	7/7	OMIM:615777
7042	TGFB2	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
7042	TGFB2	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
7042	TGFB2	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
7042	TGFB2	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
7042	TGFB2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7042	TGFB2	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
7042	TGFB2	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
7042	TGFB2	HP:0006480	Premature loss of teeth	-	OMIM:130050
7042	TGFB2	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
7042	TGFB2	HP:0000365	Hearing impairment	10/67	OMIM:131300
7042	TGFB2	HP:0001695	Cardiac arrest	HP:0040283	ORPHA:60030
7042	TGFB2	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
7042	TGFB2	HP:0000369	Low-set ears	32/37	OMIM:182212
7042	TGFB2	HP:0000343	Long philtrum	-	OMIM:208050
7042	TGFB2	HP:0000343	Long philtrum	1/7	OMIM:615777
7042	TGFB2	HP:0025643	Tarlov cyst	3/5	OMIM:614816
7042	TGFB2	HP:0011001	Increased bone mineral density	-	OMIM:131300
7042	TGFB2	HP:0002999	Patellar dislocation	2/20	OMIM:121050
7042	TGFB2	HP:0000347	Micrognathia	-	OMIM:154700
7042	TGFB2	HP:0000347	Micrognathia	26/94	OMIM:121050
7042	TGFB2	HP:0000347	Micrognathia	5/14	OMIM:208050
7042	TGFB2	HP:0000347	Micrognathia	HP:0040282	ORPHA:60030
7042	TGFB2	HP:0000347	Micrognathia	33/37	OMIM:182212
7042	TGFB2	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
7042	TGFB2	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
7042	TGFB2	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
7042	TGFB2	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
7042	TGFB2	HP:0001647	Bicuspid aortic valve	3/31	OMIM:614816
7042	TGFB2	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0000316	Hypertelorism	5/28	OMIM:614816
7042	TGFB2	HP:0000316	Hypertelorism	6/16	OMIM:208050
7042	TGFB2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:60030
7042	TGFB2	HP:0000316	Hypertelorism	28/37	OMIM:182212
7042	TGFB2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
7042	TGFB2	HP:0001643	Patent ductus arteriosus	HP:0040281	ORPHA:60030
7042	TGFB2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0000311	Round face	2/7	OMIM:615777
7042	TGFB2	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
7042	TGFB2	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
7042	TGFB2	HP:0001659	Aortic regurgitation	-	OMIM:208050
7042	TGFB2	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
7042	TGFB2	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
7042	TGFB2	HP:0001653	Mitral regurgitation	-	OMIM:121050
7042	TGFB2	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
7042	TGFB2	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:60030
7042	TGFB2	HP:0001629	Ventricular septal defect	-	OMIM:121050
7042	TGFB2	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
7042	TGFB2	HP:0002970	Genu varum	-	OMIM:615777
7042	TGFB2	HP:0001635	Congestive heart failure	-	OMIM:154700
7042	TGFB2	HP:0001631	Atrial septal defect	-	OMIM:121050
7042	TGFB2	HP:0000303	Mandibular prognathia	-	OMIM:131300
7042	TGFB2	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
7042	TGFB2	HP:0001634	Mitral valve prolapse	-	OMIM:130050
7042	TGFB2	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
7042	TGFB2	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
7042	TGFB2	HP:0001634	Mitral valve prolapse	7/26	OMIM:614816
7042	TGFB2	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
7042	TGFB2	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
7042	TGFB2	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
7042	TGFB2	HP:0006687	Aortic tortuosity	3/5	OMIM:614816
7042	TGFB2	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
7042	TGFB2	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
7042	TGFB2	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
7042	TGFB2	HP:0000400	Macrotia	7/15	OMIM:208050
7042	TGFB2	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
7042	TGFB2	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
7042	TGFB2	HP:0005294	Arterial dissection	HP:0040281	ORPHA:60030
7042	TGFB2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7042	TGFB2	HP:0000483	Astigmatism	3/53	OMIM:154700
7042	TGFB2	HP:0000483	Astigmatism	5/15	OMIM:208050
7042	TGFB2	HP:0000486	Strabismus	110/573	OMIM:154700
7042	TGFB2	HP:0000486	Strabismus	17/37	OMIM:182212
7042	TGFB2	HP:0000494	Downslanted palpebral fissures	10/28	OMIM:614816
7042	TGFB2	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
7042	TGFB2	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
7042	TGFB2	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
7042	TGFB2	HP:0000490	Deeply set eye	25/63	OMIM:154700
7042	TGFB2	HP:0000490	Deeply set eye	0/13	OMIM:614816
7042	TGFB2	HP:0000463	Anteverted nares	9/37	OMIM:182212
7042	TGFB2	HP:0001786	Narrow foot	33/53	OMIM:154700
7042	TGFB2	HP:0000473	Torticollis	2/15	OMIM:614816
7042	TGFB2	HP:0000470	Short neck	-	OMIM:121050
7042	TGFB2	HP:0000470	Short neck	1/7	OMIM:615777
7042	TGFB2	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7042	TGFB2	HP:0001763	Pes planus	HP:0040281	ORPHA:60030
7042	TGFB2	HP:0001763	Pes planus	27/53	OMIM:154700
7042	TGFB2	HP:0001763	Pes planus	1/7	OMIM:615777
7042	TGFB2	HP:0001763	Pes planus	-	OMIM:182212
7042	TGFB2	HP:0001763	Pes planus	42/73	OMIM:614816
7042	TGFB2	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
7042	TGFB2	HP:0001765	Hammertoe	-	OMIM:154700
7042	TGFB2	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
7042	TGFB2	HP:0000418	Narrow nasal ridge	-	OMIM:130050
7042	TGFB2	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
7042	TGFB2	HP:0001762	Talipes equinovarus	-	OMIM:130050
7042	TGFB2	HP:0001762	Talipes equinovarus	11/55	OMIM:614816
7042	TGFB2	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:60030
7042	TGFB2	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
7042	TGFB2	HP:0001761	Pes cavus	49/146	OMIM:154700
7042	TGFB2	HP:0000518	Cataract	118/199	OMIM:154700
7042	TGFB2	HP:0001840	Metatarsus adductus	-	OMIM:121050
7042	TGFB2	HP:0001840	Metatarsus adductus	-	OMIM:182212
7042	TGFB2	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
7042	TGFB2	HP:0001840	Metatarsus adductus	-	OMIM:615777
7042	TGFB2	HP:0001842	Foot acroosteolysis	-	OMIM:130050
7042	TGFB2	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
7042	TGFB2	HP:0000520	Proptosis	2/4	OMIM:131300
7042	TGFB2	HP:0000520	Proptosis	7/7	OMIM:615777
7042	TGFB2	HP:0000520	Proptosis	29/37	OMIM:182212
7042	TGFB2	HP:0000506	Telecanthus	-	OMIM:182212
7042	TGFB2	HP:0000508	Ptosis	2/15	OMIM:614816
7042	TGFB2	HP:0000508	Ptosis	16/37	OMIM:182212
7042	TGFB2	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
7042	TGFB2	HP:0000501	Glaucoma	29/625	OMIM:154700
7042	TGFB2	HP:0000581	Blepharophimosis	-	OMIM:208050
7042	TGFB2	HP:0000577	Exotropia	72/626	OMIM:154700
7042	TGFB2	HP:0000592	Blue sclerae	2/7	OMIM:615777
7042	TGFB2	HP:0000592	Blue sclerae	HP:0040282	ORPHA:60030
7042	TGFB2	HP:0000586	Shallow orbits	13/37	OMIM:182212
7042	TGFB2	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:60030
7042	TGFB2	HP:0000563	Keratoconus	-	OMIM:130050
7042	TGFB2	HP:0000563	Keratoconus	3/14	OMIM:208050
7042	TGFB2	HP:0011220	Prominent forehead	17/37	OMIM:182212
7042	TGFB2	HP:0012532	Chronic pain	2/2	OMIM:614816
7042	TGFB2	HP:0000565	Esotropia	12/573	OMIM:154700
7042	TGFB2	HP:0000541	Retinal detachment	-	OMIM:154700
7042	TGFB2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7042	TGFB2	HP:0001883	Talipes	13/53	OMIM:154700
7042	TGFB2	HP:0012514	Lower limb pain	4/4	OMIM:131300
7042	TGFB2	HP:0000545	Myopia	-	OMIM:121050
7042	TGFB2	HP:0000545	Myopia	6/15	OMIM:208050
7042	TGFB2	HP:0000545	Myopia	HP:0040283	ORPHA:60030
7042	TGFB2	HP:0000545	Myopia	93/251	OMIM:154700
7042	TGFB2	HP:0000545	Myopia	9/37	OMIM:182212
7043	TGFB3	HP:0009901	Crumpled ear	90/119	OMIM:121050
7043	TGFB3	HP:0001181	Adducted thumb	42/90	OMIM:121050
7043	TGFB3	HP:0001166	Arachnodactyly	104/124	OMIM:121050
7043	TGFB3	HP:0001166	Arachnodactyly	124/197	OMIM:154700
7043	TGFB3	HP:0001166	Arachnodactyly	34/37	OMIM:182212
7043	TGFB3	HP:0001166	Arachnodactyly	6/15	OMIM:208050
7043	TGFB3	HP:0001166	Arachnodactyly	17/44	OMIM:615582
7043	TGFB3	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:60030
7043	TGFB3	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0410151	Eosinophilic infiltration of the esophagus	HP:0040283	ORPHA:60030
7043	TGFB3	HP:0410151	Eosinophilic infiltration of the esophagus	-	OMIM:615582
7043	TGFB3	HP:0003745	Sporadic	-	OMIM:182212
7043	TGFB3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
7043	TGFB3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7043	TGFB3	HP:0003758	Reduced subcutaneous adipose tissue	2/2	OMIM:615582
7043	TGFB3	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
7043	TGFB3	HP:0001297	Stroke	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0001293	Cranial nerve compression	-	OMIM:131300
7043	TGFB3	HP:0001290	Generalized hypotonia	-	OMIM:208050
7043	TGFB3	HP:0001290	Generalized hypotonia	-	OMIM:182212
7043	TGFB3	HP:0001270	Motor delay	-	OMIM:121050
7043	TGFB3	HP:0001252	Hypotonia	2/2	OMIM:615582
7043	TGFB3	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
7043	TGFB3	HP:0001252	Hypotonia	2/7	OMIM:615777
7043	TGFB3	HP:0001252	Hypotonia	26/37	OMIM:182212
7043	TGFB3	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
7043	TGFB3	HP:0001249	Intellectual disability	5/7	OMIM:615777
7043	TGFB3	HP:0001249	Intellectual disability	-	OMIM:182212
7043	TGFB3	HP:0001263	Global developmental delay	-	OMIM:615777
7043	TGFB3	HP:0001263	Global developmental delay	-	OMIM:182212
7043	TGFB3	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
7043	TGFB3	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
7043	TGFB3	HP:0002515	Waddling gait	54/102	OMIM:131300
7043	TGFB3	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
7043	TGFB3	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
7043	TGFB3	HP:0000098	Tall stature	-	OMIM:154700
7043	TGFB3	HP:0000098	Tall stature	12/43	OMIM:615582
7043	TGFB3	HP:0000098	Tall stature	HP:0040282	ORPHA:60030
7043	TGFB3	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0001377	Limited elbow extension	94/109	OMIM:121050
7043	TGFB3	HP:0001377	Limited elbow extension	29/199	OMIM:154700
7043	TGFB3	HP:0001371	Flexion contracture	-	OMIM:208050
7043	TGFB3	HP:0001371	Flexion contracture	-	OMIM:154700
7043	TGFB3	HP:0001373	Joint dislocation	HP:0040283	ORPHA:60030
7043	TGFB3	HP:0001382	Joint hypermobility	1/1	OMIM:130050
7043	TGFB3	HP:0001382	Joint hypermobility	12/14	OMIM:208050
7043	TGFB3	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:60030
7043	TGFB3	HP:0001382	Joint hypermobility	11/53	OMIM:154700
7043	TGFB3	HP:0001382	Joint hypermobility	-	OMIM:615777
7043	TGFB3	HP:0001382	Joint hypermobility	31/47	OMIM:182212
7043	TGFB3	HP:0001382	Joint hypermobility	11/45	OMIM:615582
7043	TGFB3	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0000023	Inguinal hernia	11/11	OMIM:130050
7043	TGFB3	HP:0000023	Inguinal hernia	8/15	OMIM:208050
7043	TGFB3	HP:0000023	Inguinal hernia	19/34	OMIM:182212
7043	TGFB3	HP:0000023	Inguinal hernia	4/43	OMIM:615582
7043	TGFB3	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:60030
7043	TGFB3	HP:0001363	Craniosynostosis	18/37	OMIM:182212
7043	TGFB3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7043	TGFB3	HP:0000028	Cryptorchidism	1/1	OMIM:130050
7043	TGFB3	HP:0000028	Cryptorchidism	1/13	OMIM:182212
7043	TGFB3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7043	TGFB3	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
7043	TGFB3	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
7043	TGFB3	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
7043	TGFB3	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
7043	TGFB3	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
7043	TGFB3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7043	TGFB3	HP:0001324	Muscle weakness	40/96	OMIM:131300
7043	TGFB3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7043	TGFB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
7043	TGFB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7043	TGFB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
7043	TGFB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
7043	TGFB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
7043	TGFB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7043	TGFB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:615582
7043	TGFB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:107970
7043	TGFB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
7043	TGFB3	HP:0002650	Scoliosis	16/53	OMIM:154700
7043	TGFB3	HP:0002650	Scoliosis	11/15	OMIM:121050
7043	TGFB3	HP:0002650	Scoliosis	12/14	OMIM:131300
7043	TGFB3	HP:0002650	Scoliosis	3/15	OMIM:208050
7043	TGFB3	HP:0002650	Scoliosis	HP:0040282	ORPHA:60030
7043	TGFB3	HP:0002650	Scoliosis	23/37	OMIM:182212
7043	TGFB3	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0002647	Aortic dissection	1/58	OMIM:154700
7043	TGFB3	HP:0002647	Aortic dissection	HP:0040281	ORPHA:60030
7043	TGFB3	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0001319	Neonatal hypotonia	1/1	OMIM:615582
7043	TGFB3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7043	TGFB3	HP:0002619	Varicose veins	-	OMIM:130050
7043	TGFB3	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
7043	TGFB3	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
7043	TGFB3	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
7043	TGFB3	HP:0002616	Aortic root aneurysm	1/1	OMIM:615582
7043	TGFB3	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0002617	Vascular dilatation	HP:0040281	ORPHA:60030
7043	TGFB3	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
7043	TGFB3	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
7043	TGFB3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7043	TGFB3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7043	TGFB3	HP:0000189	Narrow palate	-	OMIM:182212
7043	TGFB3	HP:0000189	Narrow palate	-	OMIM:154700
7043	TGFB3	HP:0000185	Cleft soft palate	1/1	OMIM:615582
7043	TGFB3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7043	TGFB3	HP:0000193	Bifid uvula	0/14	OMIM:208050
7043	TGFB3	HP:0000193	Bifid uvula	13/45	OMIM:615582
7043	TGFB3	HP:0000193	Bifid uvula	HP:0040282	ORPHA:60030
7043	TGFB3	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
7043	TGFB3	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0012151	Hemothorax	3/4	OMIM:130050
7043	TGFB3	HP:0000175	Cleft palate	HP:0040282	ORPHA:60030
7043	TGFB3	HP:0000175	Cleft palate	2/7	OMIM:615777
7043	TGFB3	HP:0000175	Cleft palate	5/43	OMIM:615582
7043	TGFB3	HP:0000139	Uterine prolapse	-	OMIM:130050
7043	TGFB3	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
7043	TGFB3	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
7043	TGFB3	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
7043	TGFB3	HP:0002758	Osteoarthritis	2/43	OMIM:615582
7043	TGFB3	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
7043	TGFB3	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
7043	TGFB3	HP:0002751	Kyphoscoliosis	12/44	OMIM:615582
7043	TGFB3	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
7043	TGFB3	HP:0002036	Hiatus hernia	-	OMIM:208050
7043	TGFB3	HP:0002036	Hiatus hernia	3/43	OMIM:615582
7043	TGFB3	HP:0002007	Frontal bossing	-	OMIM:121050
7043	TGFB3	HP:0002007	Frontal bossing	-	OMIM:182212
7043	TGFB3	HP:0003302	Spondylolisthesis	-	OMIM:154700
7043	TGFB3	HP:0003302	Spondylolisthesis	1/43	OMIM:615582
7043	TGFB3	HP:0011800	Midface retrusion	1/1	OMIM:615582
7043	TGFB3	HP:0002099	Asthma	HP:0040282	ORPHA:60030
7043	TGFB3	HP:0002097	Emphysema	8/9	OMIM:130050
7043	TGFB3	HP:0002097	Emphysema	HP:0040283	OMIM:154700
7043	TGFB3	HP:0030961	Microspherophakia	2/53	OMIM:154700
7043	TGFB3	HP:0003388	Easy fatigability	36/76	OMIM:131300
7043	TGFB3	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
7043	TGFB3	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
7043	TGFB3	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
7043	TGFB3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7043	TGFB3	HP:0010499	Patellar subluxation	12/22	OMIM:121050
7043	TGFB3	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
7043	TGFB3	HP:0002140	Ischemic stroke	-	OMIM:208050
7043	TGFB3	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
7043	TGFB3	HP:0002108	Spontaneous pneumothorax	HP:0040283	ORPHA:60030
7043	TGFB3	HP:0002107	Pneumothorax	2/2	OMIM:130050
7043	TGFB3	HP:0002107	Pneumothorax	6/53	OMIM:154700
7043	TGFB3	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0002105	Hemoptysis	6/10	OMIM:130050
7043	TGFB3	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0002194	Delayed gross motor development	1/1	OMIM:615582
7043	TGFB3	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
7043	TGFB3	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:60030
7043	TGFB3	HP:0011833	Overhanging nasal tip	1/1	OMIM:615582
7043	TGFB3	HP:0003593	Infantile onset	5/16	OMIM:208050
7043	TGFB3	HP:0003577	Congenital onset	5/5	OMIM:121050
7043	TGFB3	HP:0003577	Congenital onset	12/26	OMIM:208050
7043	TGFB3	HP:0100718	Uterine rupture	-	OMIM:130050
7043	TGFB3	HP:0100718	Uterine rupture	HP:0040281	ORPHA:60030
7043	TGFB3	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
7043	TGFB3	HP:0004872	Incisional hernia	-	OMIM:154700
7043	TGFB3	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
7043	TGFB3	HP:0100775	Dural ectasia	112/140	OMIM:154700
7043	TGFB3	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0100749	Chest pain	1/2	OMIM:130050
7043	TGFB3	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
7043	TGFB3	HP:0002293	Alopecia of scalp	-	OMIM:130050
7043	TGFB3	HP:0034671	Knee contracture	7/14	OMIM:121050
7043	TGFB3	HP:0010665	Bilateral coxa valga	2/2	OMIM:615582
7043	TGFB3	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
7043	TGFB3	HP:0010648	Dermal translucency	3/3	OMIM:130050
7043	TGFB3	HP:0010646	Cervical spine instability	1/43	OMIM:615582
7043	TGFB3	HP:0003510	Severe short stature	7/7	OMIM:615777
7043	TGFB3	HP:0007099	Chiari type I malformation	-	OMIM:182212
7043	TGFB3	HP:0001052	Nevus flammeus	1/1	OMIM:615582
7043	TGFB3	HP:0025019	Arterial rupture	-	OMIM:130050
7043	TGFB3	HP:0001065	Striae distensae	11/53	OMIM:154700
7043	TGFB3	HP:0001065	Striae distensae	HP:0040282	ORPHA:60030
7043	TGFB3	HP:0001030	Fragile skin	-	OMIM:130050
7043	TGFB3	HP:0003691	Scapular winging	1/1	OMIM:615582
7043	TGFB3	HP:0001027	Soft, doughy skin	-	OMIM:208050
7043	TGFB3	HP:0002315	Headache	-	OMIM:131300
7043	TGFB3	HP:0004976	Knee dislocation	6/7	OMIM:615777
7043	TGFB3	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0100645	Cystocele	-	OMIM:130050
7043	TGFB3	HP:0010804	Tented upper lip vermilion	1/1	OMIM:615582
7043	TGFB3	HP:0001073	Cigarette-paper scars	-	OMIM:130050
7043	TGFB3	HP:0009803	Short phalanx of finger	-	OMIM:615777
7043	TGFB3	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
7043	TGFB3	HP:0001083	Ectopia lentis	119/251	OMIM:154700
7043	TGFB3	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
7043	TGFB3	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
7043	TGFB3	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
7043	TGFB3	HP:0009763	Limb pain	63/92	OMIM:131300
7043	TGFB3	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
7043	TGFB3	HP:0003623	Neonatal onset	3/16	OMIM:208050
7043	TGFB3	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
7043	TGFB3	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
7043	TGFB3	HP:0004933	Ascending aortic dissection	3/43	OMIM:615582
7043	TGFB3	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
7043	TGFB3	HP:0003621	Juvenile onset	3/3	OMIM:107970
7043	TGFB3	HP:0003621	Juvenile onset	-	OMIM:131300
7043	TGFB3	HP:0003621	Juvenile onset	2/16	OMIM:208050
7043	TGFB3	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
7043	TGFB3	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
7043	TGFB3	HP:0004942	Aortic aneurysm	HP:0040281	ORPHA:60030
7043	TGFB3	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
7043	TGFB3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7043	TGFB3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7043	TGFB3	HP:0000637	Long palpebral fissure	1/1	OMIM:615582
7043	TGFB3	HP:6001056	Out-toeing	-	OMIM:131300
7043	TGFB3	HP:0000651	Diplopia	-	OMIM:131300
7043	TGFB3	HP:0001977	Abnormal thrombosis	-	OMIM:208050
7043	TGFB3	HP:0001956	Truncal obesity	2/7	OMIM:615777
7043	TGFB3	HP:0001903	Anemia	1/1	OMIM:130050
7043	TGFB3	HP:0001903	Anemia	HP:0040283	OMIM:131300
7043	TGFB3	HP:0010049	Short metacarpal	-	OMIM:615777
7043	TGFB3	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
7043	TGFB3	HP:0000678	Dental crowding	8/53	OMIM:154700
7043	TGFB3	HP:0000678	Dental crowding	-	OMIM:615777
7043	TGFB3	HP:0000689	Dental malocclusion	-	OMIM:182212
7043	TGFB3	HP:0000670	Carious teeth	-	OMIM:131300
7043	TGFB3	HP:0011304	Broad thumb	2/7	OMIM:615777
7043	TGFB3	HP:0000668	Hypodontia	-	OMIM:615777
7043	TGFB3	HP:0000664	Synophrys	-	OMIM:615777
7043	TGFB3	HP:0004322	Short stature	-	OMIM:130050
7043	TGFB3	HP:0004322	Short stature	1/43	OMIM:615582
7043	TGFB3	HP:0004308	Ventricular arrhythmia	-	OMIM:107970
7043	TGFB3	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
7043	TGFB3	HP:0003088	Premature osteoarthritis	-	OMIM:154700
7043	TGFB3	HP:0003083	Dislocated radial head	5/37	OMIM:182212
7043	TGFB3	HP:0003066	Limited knee extension	38/45	OMIM:121050
7043	TGFB3	HP:0004396	Poor appetite	-	OMIM:131300
7043	TGFB3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7043	TGFB3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7043	TGFB3	HP:0003042	Elbow dislocation	1/12	OMIM:121050
7043	TGFB3	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
7043	TGFB3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7043	TGFB3	HP:0003026	Short long bone	7/7	OMIM:615777
7043	TGFB3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7043	TGFB3	HP:0005684	Distal arthrogryposis	-	OMIM:121050
7043	TGFB3	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
7043	TGFB3	HP:0000767	Pectus excavatum	2/14	OMIM:121050
7043	TGFB3	HP:0000767	Pectus excavatum	1/4	OMIM:130050
7043	TGFB3	HP:0000767	Pectus excavatum	3/15	OMIM:208050
7043	TGFB3	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:60030
7043	TGFB3	HP:0000767	Pectus excavatum	44/146	OMIM:154700
7043	TGFB3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7043	TGFB3	HP:0000767	Pectus excavatum	-	OMIM:182212
7043	TGFB3	HP:0000767	Pectus excavatum	13/45	OMIM:615582
7043	TGFB3	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0000768	Pectus carinatum	4/14	OMIM:121050
7043	TGFB3	HP:0000768	Pectus carinatum	2/15	OMIM:208050
7043	TGFB3	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:60030
7043	TGFB3	HP:0000768	Pectus carinatum	58/146	OMIM:154700
7043	TGFB3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7043	TGFB3	HP:0000768	Pectus carinatum	-	OMIM:182212
7043	TGFB3	HP:0000768	Pectus carinatum	-	OMIM:615582
7043	TGFB3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7043	TGFB3	HP:0000750	Delayed speech and language development	-	OMIM:615777
7043	TGFB3	HP:0000704	Periodontitis	-	OMIM:130050
7043	TGFB3	HP:0011463	Childhood onset	1/16	OMIM:208050
7043	TGFB3	HP:0011462	Young adult onset	3/16	OMIM:208050
7043	TGFB3	HP:0011461	Fetal onset	7/7	OMIM:615777
7043	TGFB3	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
7043	TGFB3	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
7043	TGFB3	HP:0012771	Increased arm span	-	OMIM:615582
7043	TGFB3	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
7043	TGFB3	HP:0000774	Narrow chest	2/7	OMIM:615777
7043	TGFB3	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
7043	TGFB3	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
7043	TGFB3	HP:0030799	Scaphocephaly	-	OMIM:121050
7043	TGFB3	HP:0003199	Decreased muscle mass	-	OMIM:154700
7043	TGFB3	HP:0003199	Decreased muscle mass	1/1	OMIM:615582
7043	TGFB3	HP:0000926	Platyspondyly	1/7	OMIM:615777
7043	TGFB3	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
7043	TGFB3	HP:0003180	Flat acetabular roof	-	OMIM:615777
7043	TGFB3	HP:0004482	Relative macrocephaly	-	OMIM:615777
7043	TGFB3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7043	TGFB3	HP:0000883	Thin ribs	-	OMIM:182212
7043	TGFB3	HP:0000822	Hypertension	-	OMIM:208050
7043	TGFB3	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
7043	TGFB3	HP:0000823	Delayed puberty	-	OMIM:131300
7043	TGFB3	HP:0000895	Lateral clavicle hook	-	OMIM:182212
7043	TGFB3	HP:0000894	Short clavicles	-	OMIM:615777
7043	TGFB3	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:615582
7043	TGFB3	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
7043	TGFB3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7043	TGFB3	HP:0005830	Flexion contracture of toe	1/1	OMIM:615582
7043	TGFB3	HP:0034391	Elbow contracture	10/14	OMIM:121050
7043	TGFB3	HP:0003273	Hip contracture	32/121	OMIM:121050
7043	TGFB3	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
7043	TGFB3	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
7043	TGFB3	HP:0000978	Bruising susceptibility	-	OMIM:208050
7043	TGFB3	HP:0000978	Bruising susceptibility	4/43	OMIM:615582
7043	TGFB3	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:60030
7043	TGFB3	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0000977	Soft skin	7/15	OMIM:208050
7043	TGFB3	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
7043	TGFB3	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
7043	TGFB3	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
7043	TGFB3	HP:0000973	Cutis laxa	5/14	OMIM:208050
7043	TGFB3	HP:0000987	Atypical scarring of skin	HP:0040282	ORPHA:60030
7043	TGFB3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7043	TGFB3	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
7043	TGFB3	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:60030
7043	TGFB3	HP:0000963	Thin skin	4/13	OMIM:208050
7043	TGFB3	HP:0000963	Thin skin	HP:0040283	ORPHA:60030
7043	TGFB3	HP:0000938	Osteopenia	-	OMIM:121050
7043	TGFB3	HP:0000938	Osteopenia	-	OMIM:182212
7043	TGFB3	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
7043	TGFB3	HP:0011663	Right ventricular cardiomyopathy	-	OMIM:107970
7043	TGFB3	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
7043	TGFB3	HP:0000286	Epicanthus	1/7	OMIM:615777
7043	TGFB3	HP:0025586	Hypertropia	8/573	OMIM:154700
7043	TGFB3	HP:0000283	Broad face	1/1	OMIM:615582
7043	TGFB3	HP:0000280	Coarse facial features	2/7	OMIM:615777
7043	TGFB3	HP:0000278	Retrognathia	-	OMIM:154700
7043	TGFB3	HP:0000278	Retrognathia	1/1	OMIM:615582
7043	TGFB3	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0000260	Wide anterior fontanel	-	OMIM:182212
7043	TGFB3	HP:0000275	Narrow face	-	OMIM:154700
7043	TGFB3	HP:0000276	Long face	14/14	OMIM:208050
7043	TGFB3	HP:0000276	Long face	-	OMIM:154700
7043	TGFB3	HP:0000276	Long face	4/43	OMIM:615582
7043	TGFB3	HP:0000272	Malar flattening	9/14	OMIM:208050
7043	TGFB3	HP:0000272	Malar flattening	HP:0040282	ORPHA:60030
7043	TGFB3	HP:0000272	Malar flattening	31/53	OMIM:154700
7043	TGFB3	HP:0000268	Dolichocephaly	-	OMIM:121050
7043	TGFB3	HP:0000268	Dolichocephaly	36/53	OMIM:154700
7043	TGFB3	HP:0000268	Dolichocephaly	28/37	OMIM:182212
7043	TGFB3	HP:0000268	Dolichocephaly	3/43	OMIM:615582
7043	TGFB3	HP:0005136	Mitral annular calcification	-	OMIM:154700
7043	TGFB3	HP:0005116	Arterial tortuosity	HP:0040281	ORPHA:60030
7043	TGFB3	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0002816	Genu recurvatum	-	OMIM:182212
7043	TGFB3	HP:0002816	Genu recurvatum	-	OMIM:154700
7043	TGFB3	HP:0002827	Hip dislocation	3/7	OMIM:615777
7043	TGFB3	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
7043	TGFB3	HP:0000244	Brachyturricephaly	-	OMIM:182212
7043	TGFB3	HP:0000238	Hydrocephalus	13/37	OMIM:182212
7043	TGFB3	HP:0000252	Microcephaly	-	OMIM:615777
7043	TGFB3	HP:0000252	Microcephaly	6/37	OMIM:182212
7043	TGFB3	HP:0000248	Brachycephaly	-	OMIM:121050
7043	TGFB3	HP:0000248	Brachycephaly	1/1	OMIM:615582
7043	TGFB3	HP:0001548	Overgrowth	1/1	OMIM:615582
7043	TGFB3	HP:0000218	High palate	34/53	OMIM:154700
7043	TGFB3	HP:0000218	High palate	30/102	OMIM:121050
7043	TGFB3	HP:0000218	High palate	5/13	OMIM:208050
7043	TGFB3	HP:0000218	High palate	30/37	OMIM:182212
7043	TGFB3	HP:0000218	High palate	4/43	OMIM:615582
7043	TGFB3	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
7043	TGFB3	HP:0000233	Thin vermilion border	-	OMIM:130050
7043	TGFB3	HP:0030009	Cervical insufficiency	-	OMIM:130050
7043	TGFB3	HP:0001531	Failure to thrive in infancy	1/1	OMIM:615582
7043	TGFB3	HP:0002857	Genu valgum	-	OMIM:131300
7043	TGFB3	HP:0002857	Genu valgum	4/37	OMIM:182212
7043	TGFB3	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
7043	TGFB3	HP:0001537	Umbilical hernia	-	OMIM:208050
7043	TGFB3	HP:0001537	Umbilical hernia	13/37	OMIM:182212
7043	TGFB3	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:60030
7043	TGFB3	HP:0001533	Slender build	-	OMIM:131300
7043	TGFB3	HP:0031364	Ecchymosis	-	OMIM:130050
7043	TGFB3	HP:0001519	Disproportionate tall stature	-	OMIM:121050
7043	TGFB3	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
7043	TGFB3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7043	TGFB3	HP:0001510	Growth delay	1/1	OMIM:615582
7043	TGFB3	HP:0007807	Optic nerve compression	-	OMIM:131300
7043	TGFB3	HP:0007800	Increased axial length of the globe	-	OMIM:154700
7043	TGFB3	HP:0012385	Camptodactyly	86/110	OMIM:121050
7043	TGFB3	HP:0012385	Camptodactyly	19/53	OMIM:154700
7043	TGFB3	HP:0012385	Camptodactyly	24/37	OMIM:182212
7043	TGFB3	HP:0000387	Absent earlobe	-	OMIM:130050
7043	TGFB3	HP:0012368	Flat face	7/7	OMIM:615777
7043	TGFB3	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
7043	TGFB3	HP:0000396	Overfolded helix	1/1	OMIM:615582
7043	TGFB3	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
7043	TGFB3	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
7043	TGFB3	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
7043	TGFB3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7043	TGFB3	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
7043	TGFB3	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
7043	TGFB3	HP:0006480	Premature loss of teeth	-	OMIM:130050
7043	TGFB3	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
7043	TGFB3	HP:0000365	Hearing impairment	10/67	OMIM:131300
7043	TGFB3	HP:0001695	Cardiac arrest	HP:0040283	ORPHA:60030
7043	TGFB3	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
7043	TGFB3	HP:0000369	Low-set ears	32/37	OMIM:182212
7043	TGFB3	HP:0000343	Long philtrum	-	OMIM:208050
7043	TGFB3	HP:0000343	Long philtrum	1/7	OMIM:615777
7043	TGFB3	HP:0011001	Increased bone mineral density	-	OMIM:131300
7043	TGFB3	HP:0002999	Patellar dislocation	2/20	OMIM:121050
7043	TGFB3	HP:0000347	Micrognathia	-	OMIM:154700
7043	TGFB3	HP:0000347	Micrognathia	26/94	OMIM:121050
7043	TGFB3	HP:0000347	Micrognathia	5/14	OMIM:208050
7043	TGFB3	HP:0000347	Micrognathia	HP:0040282	ORPHA:60030
7043	TGFB3	HP:0000347	Micrognathia	33/37	OMIM:182212
7043	TGFB3	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
7043	TGFB3	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
7043	TGFB3	HP:0000319	Smooth philtrum	1/1	OMIM:615582
7043	TGFB3	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
7043	TGFB3	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
7043	TGFB3	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0000316	Hypertelorism	6/16	OMIM:208050
7043	TGFB3	HP:0000316	Hypertelorism	HP:0040282	ORPHA:60030
7043	TGFB3	HP:0000316	Hypertelorism	28/37	OMIM:182212
7043	TGFB3	HP:0000316	Hypertelorism	16/45	OMIM:615582
7043	TGFB3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
7043	TGFB3	HP:0001643	Patent ductus arteriosus	HP:0040281	ORPHA:60030
7043	TGFB3	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0000311	Round face	2/7	OMIM:615777
7043	TGFB3	HP:0001645	Sudden cardiac death	-	OMIM:107970
7043	TGFB3	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
7043	TGFB3	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
7043	TGFB3	HP:0001659	Aortic regurgitation	-	OMIM:208050
7043	TGFB3	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
7043	TGFB3	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
7043	TGFB3	HP:0001653	Mitral regurgitation	-	OMIM:121050
7043	TGFB3	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
7043	TGFB3	HP:0001653	Mitral regurgitation	4/43	OMIM:615582
7043	TGFB3	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:60030
7043	TGFB3	HP:0001655	Patent foramen ovale	1/43	OMIM:615582
7043	TGFB3	HP:0001629	Ventricular septal defect	-	OMIM:121050
7043	TGFB3	HP:0001629	Ventricular septal defect	1/43	OMIM:615582
7043	TGFB3	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
7043	TGFB3	HP:0002970	Genu varum	-	OMIM:615777
7043	TGFB3	HP:0001635	Congestive heart failure	-	OMIM:154700
7043	TGFB3	HP:0001631	Atrial septal defect	-	OMIM:121050
7043	TGFB3	HP:0001631	Atrial septal defect	1/43	OMIM:615582
7043	TGFB3	HP:0000303	Mandibular prognathia	-	OMIM:131300
7043	TGFB3	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
7043	TGFB3	HP:0001634	Mitral valve prolapse	-	OMIM:130050
7043	TGFB3	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
7043	TGFB3	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
7043	TGFB3	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
7043	TGFB3	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
7043	TGFB3	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
7043	TGFB3	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
7043	TGFB3	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
7043	TGFB3	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
7043	TGFB3	HP:0000400	Macrotia	7/15	OMIM:208050
7043	TGFB3	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
7043	TGFB3	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
7043	TGFB3	HP:0005294	Arterial dissection	HP:0040281	ORPHA:60030
7043	TGFB3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7043	TGFB3	HP:0000483	Astigmatism	3/53	OMIM:154700
7043	TGFB3	HP:0000483	Astigmatism	5/15	OMIM:208050
7043	TGFB3	HP:0000486	Strabismus	110/573	OMIM:154700
7043	TGFB3	HP:0000486	Strabismus	17/37	OMIM:182212
7043	TGFB3	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
7043	TGFB3	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
7043	TGFB3	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
7043	TGFB3	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:615582
7043	TGFB3	HP:0000490	Deeply set eye	25/63	OMIM:154700
7043	TGFB3	HP:0000463	Anteverted nares	9/37	OMIM:182212
7043	TGFB3	HP:0001786	Narrow foot	33/53	OMIM:154700
7043	TGFB3	HP:0000470	Short neck	-	OMIM:121050
7043	TGFB3	HP:0000470	Short neck	1/7	OMIM:615777
7043	TGFB3	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7043	TGFB3	HP:0001763	Pes planus	HP:0040281	ORPHA:60030
7043	TGFB3	HP:0001763	Pes planus	27/53	OMIM:154700
7043	TGFB3	HP:0001763	Pes planus	1/7	OMIM:615777
7043	TGFB3	HP:0001763	Pes planus	-	OMIM:182212
7043	TGFB3	HP:0001763	Pes planus	15/44	OMIM:615582
7043	TGFB3	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
7043	TGFB3	HP:0001765	Hammertoe	-	OMIM:154700
7043	TGFB3	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
7043	TGFB3	HP:0000418	Narrow nasal ridge	-	OMIM:130050
7043	TGFB3	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
7043	TGFB3	HP:0001762	Talipes equinovarus	-	OMIM:130050
7043	TGFB3	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:60030
7043	TGFB3	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
7043	TGFB3	HP:0001762	Talipes equinovarus	1/43	OMIM:615582
7043	TGFB3	HP:0001761	Pes cavus	49/146	OMIM:154700
7043	TGFB3	HP:0000426	Prominent nasal bridge	1/1	OMIM:615582
7043	TGFB3	HP:0000518	Cataract	118/199	OMIM:154700
7043	TGFB3	HP:0001840	Metatarsus adductus	-	OMIM:121050
7043	TGFB3	HP:0001840	Metatarsus adductus	-	OMIM:182212
7043	TGFB3	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
7043	TGFB3	HP:0001840	Metatarsus adductus	-	OMIM:615777
7043	TGFB3	HP:0001842	Foot acroosteolysis	-	OMIM:130050
7043	TGFB3	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
7043	TGFB3	HP:0000520	Proptosis	2/4	OMIM:131300
7043	TGFB3	HP:0000520	Proptosis	7/7	OMIM:615777
7043	TGFB3	HP:0000520	Proptosis	29/37	OMIM:182212
7043	TGFB3	HP:0000520	Proptosis	1/1	OMIM:615582
7043	TGFB3	HP:0000506	Telecanthus	-	OMIM:182212
7043	TGFB3	HP:0000508	Ptosis	16/37	OMIM:182212
7043	TGFB3	HP:0000508	Ptosis	1/1	OMIM:615582
7043	TGFB3	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
7043	TGFB3	HP:0000501	Glaucoma	29/625	OMIM:154700
7043	TGFB3	HP:0000581	Blepharophimosis	-	OMIM:208050
7043	TGFB3	HP:0000577	Exotropia	72/626	OMIM:154700
7043	TGFB3	HP:0000592	Blue sclerae	2/7	OMIM:615777
7043	TGFB3	HP:0000592	Blue sclerae	1/1	OMIM:615582
7043	TGFB3	HP:0000592	Blue sclerae	HP:0040282	ORPHA:60030
7043	TGFB3	HP:0000586	Shallow orbits	13/37	OMIM:182212
7043	TGFB3	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:60030
7043	TGFB3	HP:0000563	Keratoconus	-	OMIM:130050
7043	TGFB3	HP:0000563	Keratoconus	3/14	OMIM:208050
7043	TGFB3	HP:0011220	Prominent forehead	17/37	OMIM:182212
7043	TGFB3	HP:0000565	Esotropia	12/573	OMIM:154700
7043	TGFB3	HP:0000541	Retinal detachment	-	OMIM:154700
7043	TGFB3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7043	TGFB3	HP:0001883	Talipes	13/53	OMIM:154700
7043	TGFB3	HP:0012514	Lower limb pain	4/4	OMIM:131300
7043	TGFB3	HP:0000545	Myopia	-	OMIM:121050
7043	TGFB3	HP:0000545	Myopia	6/15	OMIM:208050
7043	TGFB3	HP:0000545	Myopia	HP:0040283	ORPHA:60030
7043	TGFB3	HP:0000545	Myopia	93/251	OMIM:154700
7043	TGFB3	HP:0000545	Myopia	9/37	OMIM:182212
7044	LEFTY2	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
7044	LEFTY2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
7044	LEFTY2	HP:0004467	Preauricular pit	-	OMIM:187500
7044	LEFTY2	HP:0000337	Broad forehead	-	OMIM:187500
7044	LEFTY2	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
7044	LEFTY2	HP:0000520	Proptosis	-	OMIM:187500
7045	TGFBI	HP:0001149	Lattice corneal dystrophy	9/9	OMIM:608471
7045	TGFBI	HP:0001149	Lattice corneal dystrophy	5/5	OMIM:607541
7045	TGFBI	HP:0001149	Lattice corneal dystrophy	-	OMIM:122200
7045	TGFBI	HP:0001149	Lattice corneal dystrophy	HP:0040281	ORPHA:98964
7045	TGFBI	HP:0001131	Corneal dystrophy	9/9	OMIM:608470
7045	TGFBI	HP:0001131	Corneal dystrophy	-	OMIM:121820
7045	TGFBI	HP:0001131	Corneal dystrophy	-	OMIM:602082
7045	TGFBI	HP:0012040	Corneal stromal edema	HP:0040282	ORPHA:98964
7045	TGFBI	HP:0025337	Red eye	HP:0040282	ORPHA:98964
7045	TGFBI	HP:0000006	Autosomal dominant inheritance	-	OMIM:607541
7045	TGFBI	HP:0000006	Autosomal dominant inheritance	-	OMIM:122200
7045	TGFBI	HP:0000006	Autosomal dominant inheritance	-	OMIM:121820
7045	TGFBI	HP:0000006	Autosomal dominant inheritance	-	OMIM:608470
7045	TGFBI	HP:0000006	Autosomal dominant inheritance	-	OMIM:608471
7045	TGFBI	HP:0000006	Autosomal dominant inheritance	-	OMIM:121900
7045	TGFBI	HP:0000006	Autosomal dominant inheritance	-	OMIM:602082
7045	TGFBI	HP:0012155	Decreased corneal sensation	HP:0040283	ORPHA:98964
7045	TGFBI	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:98962
7045	TGFBI	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:98963
7045	TGFBI	HP:0007663	Reduced visual acuity	3/7	OMIM:608470
7045	TGFBI	HP:0007663	Reduced visual acuity	-	OMIM:608471
7045	TGFBI	HP:0007663	Reduced visual acuity	1/7	OMIM:121820
7045	TGFBI	HP:0007663	Reduced visual acuity	5/5	OMIM:607541
7045	TGFBI	HP:0100540	Palpebral edema	1/2	OMIM:608470
7045	TGFBI	HP:0003596	Middle age onset	1/7	OMIM:121820
7045	TGFBI	HP:0003593	Infantile onset	2/2	OMIM:608470
7045	TGFBI	HP:0003584	Late onset	9/9	OMIM:608471
7045	TGFBI	HP:0200026	Ocular pain	HP:0040283	ORPHA:98962
7045	TGFBI	HP:0200026	Ocular pain	HP:0040282	ORPHA:98964
7045	TGFBI	HP:0200026	Ocular pain	HP:0040282	ORPHA:98960
7045	TGFBI	HP:0200020	Corneal erosion	2/2	OMIM:608470
7045	TGFBI	HP:0200020	Corneal erosion	-	OMIM:608471
7045	TGFBI	HP:0008511	Central posterior corneal opacity	HP:0040283	ORPHA:98964
7045	TGFBI	HP:0032148	Episodic pain	HP:0040282	ORPHA:98960
7045	TGFBI	HP:0003621	Juvenile onset	1/7	OMIM:121820
7045	TGFBI	HP:0003621	Juvenile onset	4/5	OMIM:607541
7045	TGFBI	HP:0000613	Photophobia	HP:0040283	ORPHA:98962
7045	TGFBI	HP:0000613	Photophobia	HP:0040282	ORPHA:98964
7045	TGFBI	HP:0000613	Photophobia	HP:0040282	ORPHA:98960
7045	TGFBI	HP:0000613	Photophobia	1/2	OMIM:608470
7045	TGFBI	HP:0000613	Photophobia	-	OMIM:602082
7045	TGFBI	HP:0000622	Blurred vision	HP:0040283	ORPHA:98963
7045	TGFBI	HP:0011493	Central opacification of the cornea	HP:0040282	ORPHA:98962
7045	TGFBI	HP:0011493	Central opacification of the cornea	HP:0040281	ORPHA:98963
7045	TGFBI	HP:0011493	Central opacification of the cornea	HP:0040281	ORPHA:98964
7045	TGFBI	HP:0011495	Abnormal corneal epithelium morphology	HP:0040283	ORPHA:98962
7045	TGFBI	HP:0011463	Childhood onset	1/5	OMIM:607541
7045	TGFBI	HP:0011462	Young adult onset	5/7	OMIM:121820
7045	TGFBI	HP:0008039	Subepithelial corneal opacities	HP:0040281	ORPHA:98960
7045	TGFBI	HP:0008039	Subepithelial corneal opacities	HP:0040283	ORPHA:98962
7045	TGFBI	HP:0008039	Subepithelial corneal opacities	HP:0040282	ORPHA:98963
7045	TGFBI	HP:0008039	Subepithelial corneal opacities	HP:0040282	ORPHA:98964
7045	TGFBI	HP:0007759	Opacification of the corneal stroma	HP:0040282	ORPHA:98963
7045	TGFBI	HP:0007759	Opacification of the corneal stroma	HP:0040282	ORPHA:98960
7045	TGFBI	HP:0007759	Opacification of the corneal stroma	2/2	OMIM:608470
7045	TGFBI	HP:0007755	Juvenile epithelial corneal dystrophy	-	OMIM:602082
7045	TGFBI	HP:0007690	Map-dot-fingerprint corneal dystrophy	-	OMIM:121820
7045	TGFBI	HP:0007827	Nodular corneal dystrophy	-	OMIM:121900
7045	TGFBI	HP:0007802	Granular corneal dystrophy	-	OMIM:121900
7045	TGFBI	HP:0007802	Granular corneal dystrophy	HP:0040281	ORPHA:98963
7045	TGFBI	HP:0007809	Punctate corneal dystrophy	-	OMIM:121900
7045	TGFBI	HP:0007881	Central corneal dystrophy	HP:0040281	ORPHA:98960
7045	TGFBI	HP:0007881	Central corneal dystrophy	HP:0040281	ORPHA:98962
7045	TGFBI	HP:0011003	High myopia	HP:0040283	ORPHA:98964
7045	TGFBI	HP:0007957	Corneal opacity	HP:0040281	ORPHA:98964
7045	TGFBI	HP:0007957	Corneal opacity	7/7	OMIM:608470
7045	TGFBI	HP:0007924	Slow decrease in visual acuity	HP:0040281	ORPHA:98960
7045	TGFBI	HP:0007924	Slow decrease in visual acuity	HP:0040283	ORPHA:98964
7045	TGFBI	HP:0000483	Astigmatism	HP:0040282	ORPHA:98964
7045	TGFBI	HP:0000483	Astigmatism	HP:0040283	ORPHA:98960
7045	TGFBI	HP:0000486	Strabismus	-	OMIM:608470
7045	TGFBI	HP:0000486	Strabismus	-	OMIM:121900
7045	TGFBI	HP:0000481	Abnormal cornea morphology	HP:0040281	ORPHA:98964
7045	TGFBI	HP:0000495	Recurrent corneal erosions	HP:0040282	ORPHA:98960
7045	TGFBI	HP:0000495	Recurrent corneal erosions	7/7	OMIM:121820
7045	TGFBI	HP:0000495	Recurrent corneal erosions	HP:0040282	ORPHA:98962
7045	TGFBI	HP:0000495	Recurrent corneal erosions	HP:0040283	ORPHA:98963
7045	TGFBI	HP:0000495	Recurrent corneal erosions	-	OMIM:122200
7045	TGFBI	HP:0000495	Recurrent corneal erosions	HP:0040282	ORPHA:98964
7045	TGFBI	HP:0000518	Cataract	-	OMIM:121900
7045	TGFBI	HP:0000529	Progressive visual loss	-	OMIM:122200
7045	TGFBI	HP:0000505	Visual impairment	HP:0040282	ORPHA:98962
7045	TGFBI	HP:0000505	Visual impairment	HP:0040282	ORPHA:98963
7045	TGFBI	HP:0000505	Visual impairment	-	OMIM:608471
7045	TGFBI	HP:0000505	Visual impairment	5/5	OMIM:607541
7045	TGFBI	HP:0000559	Corneal scarring	HP:0040281	ORPHA:98964
7045	TGFBI	HP:0000559	Corneal scarring	-	OMIM:602082
7045	TGFBI	HP:0000572	Visual loss	HP:0040281	ORPHA:98964
7045	TGFBI	HP:0000531	Corneal crystals	HP:0040281	ORPHA:98962
7045	TGFBI	HP:0000531	Corneal crystals	HP:0040281	ORPHA:98963
7046	TGFBR1	HP:0009901	Crumpled ear	90/119	OMIM:121050
7046	TGFBR1	HP:0001181	Adducted thumb	42/90	OMIM:121050
7046	TGFBR1	HP:0001166	Arachnodactyly	104/124	OMIM:121050
7046	TGFBR1	HP:0001166	Arachnodactyly	124/197	OMIM:154700
7046	TGFBR1	HP:0001166	Arachnodactyly	34/37	OMIM:182212
7046	TGFBR1	HP:0001166	Arachnodactyly	6/15	OMIM:208050
7046	TGFBR1	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:60030
7046	TGFBR1	HP:0001166	Arachnodactyly	25/36	OMIM:609192
7046	TGFBR1	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0001162	Postaxial hand polydactyly	-	OMIM:609192
7046	TGFBR1	HP:0410151	Eosinophilic infiltration of the esophagus	HP:0040283	ORPHA:60030
7046	TGFBR1	HP:0410151	Eosinophilic infiltration of the esophagus	-	OMIM:609192
7046	TGFBR1	HP:0003745	Sporadic	-	OMIM:182212
7046	TGFBR1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
7046	TGFBR1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7046	TGFBR1	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
7046	TGFBR1	HP:0001297	Stroke	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0001293	Cranial nerve compression	-	OMIM:131300
7046	TGFBR1	HP:0001290	Generalized hypotonia	-	OMIM:208050
7046	TGFBR1	HP:0001290	Generalized hypotonia	-	OMIM:182212
7046	TGFBR1	HP:0001270	Motor delay	-	OMIM:121050
7046	TGFBR1	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
7046	TGFBR1	HP:0001252	Hypotonia	2/7	OMIM:615777
7046	TGFBR1	HP:0001252	Hypotonia	26/37	OMIM:182212
7046	TGFBR1	HP:0001249	Intellectual disability	-	OMIM:609192
7046	TGFBR1	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
7046	TGFBR1	HP:0001249	Intellectual disability	5/7	OMIM:615777
7046	TGFBR1	HP:0001249	Intellectual disability	-	OMIM:182212
7046	TGFBR1	HP:0001263	Global developmental delay	4/36	OMIM:609192
7046	TGFBR1	HP:0001263	Global developmental delay	-	OMIM:615777
7046	TGFBR1	HP:0001263	Global developmental delay	-	OMIM:182212
7046	TGFBR1	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
7046	TGFBR1	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
7046	TGFBR1	HP:0002515	Waddling gait	54/102	OMIM:131300
7046	TGFBR1	HP:0003829	Typified by incomplete penetrance	-	OMIM:132800
7046	TGFBR1	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
7046	TGFBR1	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
7046	TGFBR1	HP:0000098	Tall stature	-	OMIM:154700
7046	TGFBR1	HP:0000098	Tall stature	HP:0040282	ORPHA:60030
7046	TGFBR1	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0001377	Limited elbow extension	94/109	OMIM:121050
7046	TGFBR1	HP:0001377	Limited elbow extension	29/199	OMIM:154700
7046	TGFBR1	HP:0001371	Flexion contracture	-	OMIM:208050
7046	TGFBR1	HP:0001371	Flexion contracture	-	OMIM:154700
7046	TGFBR1	HP:0001373	Joint dislocation	HP:0040283	ORPHA:60030
7046	TGFBR1	HP:0001382	Joint hypermobility	25/37	OMIM:609192
7046	TGFBR1	HP:0001382	Joint hypermobility	1/1	OMIM:130050
7046	TGFBR1	HP:0001382	Joint hypermobility	12/14	OMIM:208050
7046	TGFBR1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:60030
7046	TGFBR1	HP:0001382	Joint hypermobility	11/53	OMIM:154700
7046	TGFBR1	HP:0001382	Joint hypermobility	-	OMIM:615777
7046	TGFBR1	HP:0001382	Joint hypermobility	31/47	OMIM:182212
7046	TGFBR1	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0000023	Inguinal hernia	2/2	OMIM:609192
7046	TGFBR1	HP:0000023	Inguinal hernia	11/11	OMIM:130050
7046	TGFBR1	HP:0000023	Inguinal hernia	8/15	OMIM:208050
7046	TGFBR1	HP:0000023	Inguinal hernia	19/34	OMIM:182212
7046	TGFBR1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:60030
7046	TGFBR1	HP:0001363	Craniosynostosis	18/37	OMIM:609192
7046	TGFBR1	HP:0001363	Craniosynostosis	18/37	OMIM:182212
7046	TGFBR1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7046	TGFBR1	HP:0000028	Cryptorchidism	1/1	OMIM:130050
7046	TGFBR1	HP:0000028	Cryptorchidism	1/13	OMIM:182212
7046	TGFBR1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7046	TGFBR1	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
7046	TGFBR1	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
7046	TGFBR1	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
7046	TGFBR1	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
7046	TGFBR1	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
7046	TGFBR1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7046	TGFBR1	HP:0001324	Muscle weakness	40/96	OMIM:131300
7046	TGFBR1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7046	TGFBR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
7046	TGFBR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7046	TGFBR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:609192
7046	TGFBR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
7046	TGFBR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
7046	TGFBR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
7046	TGFBR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7046	TGFBR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:132800
7046	TGFBR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
7046	TGFBR1	HP:0002650	Scoliosis	21/38	OMIM:609192
7046	TGFBR1	HP:0002650	Scoliosis	16/53	OMIM:154700
7046	TGFBR1	HP:0002650	Scoliosis	11/15	OMIM:121050
7046	TGFBR1	HP:0002650	Scoliosis	12/14	OMIM:131300
7046	TGFBR1	HP:0002650	Scoliosis	3/15	OMIM:208050
7046	TGFBR1	HP:0002650	Scoliosis	HP:0040282	ORPHA:60030
7046	TGFBR1	HP:0002650	Scoliosis	23/37	OMIM:182212
7046	TGFBR1	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0002647	Aortic dissection	1/58	OMIM:154700
7046	TGFBR1	HP:0002647	Aortic dissection	HP:0040281	ORPHA:60030
7046	TGFBR1	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7046	TGFBR1	HP:0002619	Varicose veins	-	OMIM:130050
7046	TGFBR1	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
7046	TGFBR1	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
7046	TGFBR1	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
7046	TGFBR1	HP:0002616	Aortic root aneurysm	39/40	OMIM:609192
7046	TGFBR1	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0002617	Vascular dilatation	HP:0040281	ORPHA:60030
7046	TGFBR1	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
7046	TGFBR1	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
7046	TGFBR1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7046	TGFBR1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7046	TGFBR1	HP:0000189	Narrow palate	-	OMIM:182212
7046	TGFBR1	HP:0000189	Narrow palate	-	OMIM:154700
7046	TGFBR1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7046	TGFBR1	HP:0000193	Bifid uvula	0/18	OMIM:132800
7046	TGFBR1	HP:0000193	Bifid uvula	0/14	OMIM:208050
7046	TGFBR1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:60030
7046	TGFBR1	HP:0000193	Bifid uvula	30/34	OMIM:609192
7046	TGFBR1	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
7046	TGFBR1	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0012151	Hemothorax	3/4	OMIM:130050
7046	TGFBR1	HP:0000175	Cleft palate	2/9	OMIM:609192
7046	TGFBR1	HP:0000175	Cleft palate	HP:0040282	ORPHA:60030
7046	TGFBR1	HP:0000175	Cleft palate	2/7	OMIM:615777
7046	TGFBR1	HP:0000139	Uterine prolapse	-	OMIM:130050
7046	TGFBR1	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
7046	TGFBR1	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
7046	TGFBR1	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
7046	TGFBR1	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
7046	TGFBR1	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
7046	TGFBR1	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
7046	TGFBR1	HP:0002036	Hiatus hernia	-	OMIM:208050
7046	TGFBR1	HP:0002007	Frontal bossing	-	OMIM:121050
7046	TGFBR1	HP:0002007	Frontal bossing	-	OMIM:182212
7046	TGFBR1	HP:0003302	Spondylolisthesis	-	OMIM:154700
7046	TGFBR1	HP:0003302	Spondylolisthesis	1/2	OMIM:609192
7046	TGFBR1	HP:0002099	Asthma	HP:0040282	ORPHA:60030
7046	TGFBR1	HP:0002097	Emphysema	8/9	OMIM:130050
7046	TGFBR1	HP:0002097	Emphysema	HP:0040283	OMIM:154700
7046	TGFBR1	HP:0030961	Microspherophakia	2/53	OMIM:154700
7046	TGFBR1	HP:0003388	Easy fatigability	36/76	OMIM:131300
7046	TGFBR1	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
7046	TGFBR1	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
7046	TGFBR1	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
7046	TGFBR1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7046	TGFBR1	HP:0010499	Patellar subluxation	12/22	OMIM:121050
7046	TGFBR1	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
7046	TGFBR1	HP:0002140	Ischemic stroke	-	OMIM:208050
7046	TGFBR1	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
7046	TGFBR1	HP:0002108	Spontaneous pneumothorax	HP:0040283	ORPHA:60030
7046	TGFBR1	HP:0002107	Pneumothorax	2/2	OMIM:130050
7046	TGFBR1	HP:0002107	Pneumothorax	6/53	OMIM:154700
7046	TGFBR1	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0002105	Hemoptysis	6/10	OMIM:130050
7046	TGFBR1	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
7046	TGFBR1	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:60030
7046	TGFBR1	HP:0003593	Infantile onset	5/16	OMIM:208050
7046	TGFBR1	HP:0003577	Congenital onset	2/2	OMIM:609192
7046	TGFBR1	HP:0003577	Congenital onset	5/5	OMIM:121050
7046	TGFBR1	HP:0003577	Congenital onset	12/26	OMIM:208050
7046	TGFBR1	HP:0003581	Adult onset	1/1	OMIM:609192
7046	TGFBR1	HP:0003581	Adult onset	-	OMIM:132800
7046	TGFBR1	HP:0100718	Uterine rupture	-	OMIM:130050
7046	TGFBR1	HP:0100718	Uterine rupture	HP:0040281	ORPHA:60030
7046	TGFBR1	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
7046	TGFBR1	HP:0004872	Incisional hernia	-	OMIM:154700
7046	TGFBR1	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
7046	TGFBR1	HP:0100775	Dural ectasia	112/140	OMIM:154700
7046	TGFBR1	HP:0100775	Dural ectasia	1/1	OMIM:609192
7046	TGFBR1	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0100749	Chest pain	1/2	OMIM:130050
7046	TGFBR1	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
7046	TGFBR1	HP:0002293	Alopecia of scalp	-	OMIM:130050
7046	TGFBR1	HP:0034671	Knee contracture	7/14	OMIM:121050
7046	TGFBR1	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
7046	TGFBR1	HP:0010648	Dermal translucency	3/3	OMIM:130050
7046	TGFBR1	HP:0010648	Dermal translucency	11/34	OMIM:609192
7046	TGFBR1	HP:0010646	Cervical spine instability	7/30	OMIM:609192
7046	TGFBR1	HP:0003510	Severe short stature	7/7	OMIM:615777
7046	TGFBR1	HP:0007099	Chiari type I malformation	-	OMIM:182212
7046	TGFBR1	HP:0025019	Arterial rupture	-	OMIM:130050
7046	TGFBR1	HP:0001065	Striae distensae	11/53	OMIM:154700
7046	TGFBR1	HP:0001065	Striae distensae	HP:0040282	ORPHA:60030
7046	TGFBR1	HP:0001065	Striae distensae	1/1	OMIM:609192
7046	TGFBR1	HP:0001030	Fragile skin	-	OMIM:130050
7046	TGFBR1	HP:0001027	Soft, doughy skin	-	OMIM:208050
7046	TGFBR1	HP:0002315	Headache	-	OMIM:131300
7046	TGFBR1	HP:0004976	Knee dislocation	6/7	OMIM:615777
7046	TGFBR1	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0100645	Cystocele	-	OMIM:130050
7046	TGFBR1	HP:0001073	Cigarette-paper scars	-	OMIM:130050
7046	TGFBR1	HP:0009803	Short phalanx of finger	-	OMIM:615777
7046	TGFBR1	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
7046	TGFBR1	HP:0001083	Ectopia lentis	119/251	OMIM:154700
7046	TGFBR1	HP:0001083	Ectopia lentis	0/32	OMIM:609192
7046	TGFBR1	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
7046	TGFBR1	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
7046	TGFBR1	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
7046	TGFBR1	HP:0009763	Limb pain	63/92	OMIM:131300
7046	TGFBR1	HP:0004959	Descending thoracic aorta aneurysm	0/5	OMIM:609192
7046	TGFBR1	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
7046	TGFBR1	HP:0003623	Neonatal onset	3/16	OMIM:208050
7046	TGFBR1	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
7046	TGFBR1	HP:0004970	Ascending tubular aorta aneurysm	0/18	OMIM:132800
7046	TGFBR1	HP:0002308	Chiari malformation	4/34	OMIM:609192
7046	TGFBR1	HP:0004937	Pulmonary artery aneurysm	5/8	OMIM:609192
7046	TGFBR1	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
7046	TGFBR1	HP:0004933	Ascending aortic dissection	6/14	OMIM:609192
7046	TGFBR1	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
7046	TGFBR1	HP:0003621	Juvenile onset	-	OMIM:131300
7046	TGFBR1	HP:0003621	Juvenile onset	2/16	OMIM:208050
7046	TGFBR1	HP:0003621	Juvenile onset	-	OMIM:132800
7046	TGFBR1	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0034720	Self-healing squamous epithelioma	0/7	OMIM:609192
7046	TGFBR1	HP:0034720	Self-healing squamous epithelioma	18/18	OMIM:132800
7046	TGFBR1	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
7046	TGFBR1	HP:0004944	Dilatation of the cerebral artery	-	OMIM:609192
7046	TGFBR1	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
7046	TGFBR1	HP:0004942	Aortic aneurysm	HP:0040281	ORPHA:60030
7046	TGFBR1	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
7046	TGFBR1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7046	TGFBR1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7046	TGFBR1	HP:6001056	Out-toeing	-	OMIM:131300
7046	TGFBR1	HP:0000651	Diplopia	-	OMIM:131300
7046	TGFBR1	HP:0001977	Abnormal thrombosis	-	OMIM:208050
7046	TGFBR1	HP:0001956	Truncal obesity	2/7	OMIM:615777
7046	TGFBR1	HP:0001903	Anemia	1/1	OMIM:130050
7046	TGFBR1	HP:0001903	Anemia	HP:0040283	OMIM:131300
7046	TGFBR1	HP:0010049	Short metacarpal	-	OMIM:615777
7046	TGFBR1	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
7046	TGFBR1	HP:0000678	Dental crowding	8/53	OMIM:154700
7046	TGFBR1	HP:0000678	Dental crowding	-	OMIM:615777
7046	TGFBR1	HP:0000689	Dental malocclusion	-	OMIM:182212
7046	TGFBR1	HP:0009004	Hypoplasia of the musculature	1/1	OMIM:609192
7046	TGFBR1	HP:0000670	Carious teeth	-	OMIM:131300
7046	TGFBR1	HP:0011304	Broad thumb	2/7	OMIM:615777
7046	TGFBR1	HP:0000668	Hypodontia	-	OMIM:615777
7046	TGFBR1	HP:0000664	Synophrys	-	OMIM:615777
7046	TGFBR1	HP:0004322	Short stature	-	OMIM:130050
7046	TGFBR1	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
7046	TGFBR1	HP:0003088	Premature osteoarthritis	-	OMIM:154700
7046	TGFBR1	HP:0003083	Dislocated radial head	5/37	OMIM:182212
7046	TGFBR1	HP:0003066	Limited knee extension	38/45	OMIM:121050
7046	TGFBR1	HP:0004396	Poor appetite	-	OMIM:131300
7046	TGFBR1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7046	TGFBR1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7046	TGFBR1	HP:0003042	Elbow dislocation	1/12	OMIM:121050
7046	TGFBR1	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
7046	TGFBR1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7046	TGFBR1	HP:0003026	Short long bone	7/7	OMIM:615777
7046	TGFBR1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7046	TGFBR1	HP:0005684	Distal arthrogryposis	-	OMIM:121050
7046	TGFBR1	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
7046	TGFBR1	HP:0000767	Pectus excavatum	2/14	OMIM:121050
7046	TGFBR1	HP:0000767	Pectus excavatum	1/1	OMIM:609192
7046	TGFBR1	HP:0000767	Pectus excavatum	1/4	OMIM:130050
7046	TGFBR1	HP:0000767	Pectus excavatum	3/15	OMIM:208050
7046	TGFBR1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:60030
7046	TGFBR1	HP:0000767	Pectus excavatum	44/146	OMIM:154700
7046	TGFBR1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7046	TGFBR1	HP:0000767	Pectus excavatum	-	OMIM:182212
7046	TGFBR1	HP:0000766	Abnormal sternum morphology	24/35	OMIM:609192
7046	TGFBR1	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0000768	Pectus carinatum	4/14	OMIM:121050
7046	TGFBR1	HP:0000768	Pectus carinatum	2/15	OMIM:208050
7046	TGFBR1	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:60030
7046	TGFBR1	HP:0000768	Pectus carinatum	2/5	OMIM:609192
7046	TGFBR1	HP:0000768	Pectus carinatum	58/146	OMIM:154700
7046	TGFBR1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7046	TGFBR1	HP:0000768	Pectus carinatum	-	OMIM:182212
7046	TGFBR1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7046	TGFBR1	HP:0000750	Delayed speech and language development	-	OMIM:615777
7046	TGFBR1	HP:0000704	Periodontitis	-	OMIM:130050
7046	TGFBR1	HP:0011463	Childhood onset	1/16	OMIM:208050
7046	TGFBR1	HP:0011462	Young adult onset	3/16	OMIM:208050
7046	TGFBR1	HP:0011461	Fetal onset	7/7	OMIM:615777
7046	TGFBR1	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
7046	TGFBR1	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
7046	TGFBR1	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
7046	TGFBR1	HP:0000774	Narrow chest	2/7	OMIM:615777
7046	TGFBR1	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
7046	TGFBR1	HP:0030745	Dilatation of the ductus arteriosus	0/3	OMIM:609192
7046	TGFBR1	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
7046	TGFBR1	HP:0030799	Scaphocephaly	-	OMIM:121050
7046	TGFBR1	HP:0003199	Decreased muscle mass	-	OMIM:154700
7046	TGFBR1	HP:0000926	Platyspondyly	1/7	OMIM:615777
7046	TGFBR1	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
7046	TGFBR1	HP:0003180	Flat acetabular roof	-	OMIM:615777
7046	TGFBR1	HP:0004482	Relative macrocephaly	-	OMIM:615777
7046	TGFBR1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7046	TGFBR1	HP:0000883	Thin ribs	-	OMIM:182212
7046	TGFBR1	HP:0000822	Hypertension	-	OMIM:208050
7046	TGFBR1	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
7046	TGFBR1	HP:0000823	Delayed puberty	-	OMIM:131300
7046	TGFBR1	HP:0000895	Lateral clavicle hook	-	OMIM:182212
7046	TGFBR1	HP:0000894	Short clavicles	-	OMIM:615777
7046	TGFBR1	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
7046	TGFBR1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7046	TGFBR1	HP:0034391	Elbow contracture	10/14	OMIM:121050
7046	TGFBR1	HP:0003273	Hip contracture	32/121	OMIM:121050
7046	TGFBR1	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
7046	TGFBR1	HP:0100259	Postaxial polydactyly	0/6	OMIM:609192
7046	TGFBR1	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
7046	TGFBR1	HP:0000978	Bruising susceptibility	-	OMIM:208050
7046	TGFBR1	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:60030
7046	TGFBR1	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0000977	Soft skin	7/15	OMIM:208050
7046	TGFBR1	HP:0000977	Soft skin	12/35	OMIM:609192
7046	TGFBR1	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
7046	TGFBR1	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
7046	TGFBR1	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
7046	TGFBR1	HP:0000973	Cutis laxa	5/14	OMIM:208050
7046	TGFBR1	HP:0000987	Atypical scarring of skin	HP:0040282	ORPHA:60030
7046	TGFBR1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7046	TGFBR1	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
7046	TGFBR1	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:60030
7046	TGFBR1	HP:0000963	Thin skin	4/13	OMIM:208050
7046	TGFBR1	HP:0000963	Thin skin	HP:0040283	ORPHA:60030
7046	TGFBR1	HP:0000938	Osteopenia	-	OMIM:121050
7046	TGFBR1	HP:0000938	Osteopenia	-	OMIM:182212
7046	TGFBR1	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
7046	TGFBR1	HP:0005815	Supernumerary ribs	1/1	OMIM:609192
7046	TGFBR1	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
7046	TGFBR1	HP:0000286	Epicanthus	1/7	OMIM:615777
7046	TGFBR1	HP:0025586	Hypertropia	8/573	OMIM:154700
7046	TGFBR1	HP:0000280	Coarse facial features	2/7	OMIM:615777
7046	TGFBR1	HP:0000278	Retrognathia	19/39	OMIM:609192
7046	TGFBR1	HP:0000278	Retrognathia	-	OMIM:154700
7046	TGFBR1	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0000260	Wide anterior fontanel	-	OMIM:182212
7046	TGFBR1	HP:0000275	Narrow face	-	OMIM:154700
7046	TGFBR1	HP:0000276	Long face	14/14	OMIM:208050
7046	TGFBR1	HP:0000276	Long face	-	OMIM:154700
7046	TGFBR1	HP:0000272	Malar flattening	9/14	OMIM:208050
7046	TGFBR1	HP:0000272	Malar flattening	HP:0040282	ORPHA:60030
7046	TGFBR1	HP:0000272	Malar flattening	23/38	OMIM:609192
7046	TGFBR1	HP:0000272	Malar flattening	31/53	OMIM:154700
7046	TGFBR1	HP:0000268	Dolichocephaly	-	OMIM:121050
7046	TGFBR1	HP:0000268	Dolichocephaly	36/53	OMIM:154700
7046	TGFBR1	HP:0000268	Dolichocephaly	28/37	OMIM:182212
7046	TGFBR1	HP:0005136	Mitral annular calcification	-	OMIM:154700
7046	TGFBR1	HP:0005116	Arterial tortuosity	HP:0040281	ORPHA:60030
7046	TGFBR1	HP:0005116	Arterial tortuosity	16/35	OMIM:609192
7046	TGFBR1	HP:0005116	Arterial tortuosity	0/18	OMIM:132800
7046	TGFBR1	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0002816	Genu recurvatum	-	OMIM:182212
7046	TGFBR1	HP:0002816	Genu recurvatum	-	OMIM:154700
7046	TGFBR1	HP:0002827	Hip dislocation	3/7	OMIM:615777
7046	TGFBR1	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
7046	TGFBR1	HP:0000244	Brachyturricephaly	-	OMIM:182212
7046	TGFBR1	HP:0000238	Hydrocephalus	6/34	OMIM:609192
7046	TGFBR1	HP:0000238	Hydrocephalus	13/37	OMIM:182212
7046	TGFBR1	HP:0000252	Microcephaly	-	OMIM:615777
7046	TGFBR1	HP:0000252	Microcephaly	6/37	OMIM:182212
7046	TGFBR1	HP:0000248	Brachycephaly	-	OMIM:121050
7046	TGFBR1	HP:0000218	High palate	3/4	OMIM:609192
7046	TGFBR1	HP:0000218	High palate	34/53	OMIM:154700
7046	TGFBR1	HP:0000218	High palate	30/102	OMIM:121050
7046	TGFBR1	HP:0000218	High palate	5/13	OMIM:208050
7046	TGFBR1	HP:0000218	High palate	30/37	OMIM:182212
7046	TGFBR1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
7046	TGFBR1	HP:0000233	Thin vermilion border	-	OMIM:130050
7046	TGFBR1	HP:0030009	Cervical insufficiency	-	OMIM:130050
7046	TGFBR1	HP:0002857	Genu valgum	-	OMIM:131300
7046	TGFBR1	HP:0002857	Genu valgum	4/37	OMIM:182212
7046	TGFBR1	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
7046	TGFBR1	HP:0002870	Obstructive sleep apnea	1/2	OMIM:609192
7046	TGFBR1	HP:0001537	Umbilical hernia	-	OMIM:208050
7046	TGFBR1	HP:0001537	Umbilical hernia	13/37	OMIM:182212
7046	TGFBR1	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:60030
7046	TGFBR1	HP:0001533	Slender build	-	OMIM:131300
7046	TGFBR1	HP:0031364	Ecchymosis	-	OMIM:130050
7046	TGFBR1	HP:0001519	Disproportionate tall stature	-	OMIM:121050
7046	TGFBR1	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
7046	TGFBR1	HP:0001519	Disproportionate tall stature	7/35	OMIM:609192
7046	TGFBR1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7046	TGFBR1	HP:0007807	Optic nerve compression	-	OMIM:131300
7046	TGFBR1	HP:0007800	Increased axial length of the globe	-	OMIM:154700
7046	TGFBR1	HP:0012385	Camptodactyly	86/110	OMIM:121050
7046	TGFBR1	HP:0012385	Camptodactyly	12/36	OMIM:609192
7046	TGFBR1	HP:0012385	Camptodactyly	19/53	OMIM:154700
7046	TGFBR1	HP:0012385	Camptodactyly	24/37	OMIM:182212
7046	TGFBR1	HP:0000387	Absent earlobe	-	OMIM:130050
7046	TGFBR1	HP:0012368	Flat face	7/7	OMIM:615777
7046	TGFBR1	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
7046	TGFBR1	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
7046	TGFBR1	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
7046	TGFBR1	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
7046	TGFBR1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7046	TGFBR1	HP:0005182	Bicuspid pulmonary valve	0/7	OMIM:609192
7046	TGFBR1	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
7046	TGFBR1	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
7046	TGFBR1	HP:0006480	Premature loss of teeth	-	OMIM:130050
7046	TGFBR1	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
7046	TGFBR1	HP:0000365	Hearing impairment	10/67	OMIM:131300
7046	TGFBR1	HP:0001695	Cardiac arrest	HP:0040283	ORPHA:60030
7046	TGFBR1	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
7046	TGFBR1	HP:0000369	Low-set ears	1/3	OMIM:609192
7046	TGFBR1	HP:0000369	Low-set ears	32/37	OMIM:182212
7046	TGFBR1	HP:0000343	Long philtrum	-	OMIM:208050
7046	TGFBR1	HP:0000343	Long philtrum	1/7	OMIM:615777
7046	TGFBR1	HP:0011001	Increased bone mineral density	-	OMIM:131300
7046	TGFBR1	HP:0002999	Patellar dislocation	2/20	OMIM:121050
7046	TGFBR1	HP:0000347	Micrognathia	11/13	OMIM:609192
7046	TGFBR1	HP:0000347	Micrognathia	-	OMIM:154700
7046	TGFBR1	HP:0000347	Micrognathia	26/94	OMIM:121050
7046	TGFBR1	HP:0000347	Micrognathia	5/14	OMIM:208050
7046	TGFBR1	HP:0000347	Micrognathia	HP:0040282	ORPHA:60030
7046	TGFBR1	HP:0000347	Micrognathia	33/37	OMIM:182212
7046	TGFBR1	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
7046	TGFBR1	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
7046	TGFBR1	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
7046	TGFBR1	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
7046	TGFBR1	HP:0001647	Bicuspid aortic valve	1/8	OMIM:609192
7046	TGFBR1	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0000316	Hypertelorism	31/37	OMIM:609192
7046	TGFBR1	HP:0000316	Hypertelorism	6/16	OMIM:208050
7046	TGFBR1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:60030
7046	TGFBR1	HP:0000316	Hypertelorism	0/18	OMIM:132800
7046	TGFBR1	HP:0000316	Hypertelorism	28/37	OMIM:182212
7046	TGFBR1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
7046	TGFBR1	HP:0001643	Patent ductus arteriosus	0/1	OMIM:609192
7046	TGFBR1	HP:0001643	Patent ductus arteriosus	HP:0040281	ORPHA:60030
7046	TGFBR1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0000311	Round face	2/7	OMIM:615777
7046	TGFBR1	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
7046	TGFBR1	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
7046	TGFBR1	HP:0001659	Aortic regurgitation	-	OMIM:208050
7046	TGFBR1	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
7046	TGFBR1	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
7046	TGFBR1	HP:0001653	Mitral regurgitation	-	OMIM:121050
7046	TGFBR1	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
7046	TGFBR1	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:60030
7046	TGFBR1	HP:0000324	Facial asymmetry	1/1	OMIM:609192
7046	TGFBR1	HP:0001629	Ventricular septal defect	-	OMIM:121050
7046	TGFBR1	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
7046	TGFBR1	HP:0002970	Genu varum	-	OMIM:615777
7046	TGFBR1	HP:0001635	Congestive heart failure	-	OMIM:154700
7046	TGFBR1	HP:0001631	Atrial septal defect	-	OMIM:121050
7046	TGFBR1	HP:0001631	Atrial septal defect	0/1	OMIM:609192
7046	TGFBR1	HP:0000303	Mandibular prognathia	-	OMIM:131300
7046	TGFBR1	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
7046	TGFBR1	HP:0001634	Mitral valve prolapse	-	OMIM:130050
7046	TGFBR1	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
7046	TGFBR1	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
7046	TGFBR1	HP:0001634	Mitral valve prolapse	2/8	OMIM:609192
7046	TGFBR1	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
7046	TGFBR1	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
7046	TGFBR1	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
7046	TGFBR1	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
7046	TGFBR1	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
7046	TGFBR1	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
7046	TGFBR1	HP:0000400	Macrotia	7/15	OMIM:208050
7046	TGFBR1	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
7046	TGFBR1	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
7046	TGFBR1	HP:0005294	Arterial dissection	HP:0040281	ORPHA:60030
7046	TGFBR1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7046	TGFBR1	HP:0000483	Astigmatism	3/53	OMIM:154700
7046	TGFBR1	HP:0000483	Astigmatism	5/15	OMIM:208050
7046	TGFBR1	HP:0000486	Strabismus	1/1	OMIM:609192
7046	TGFBR1	HP:0000486	Strabismus	110/573	OMIM:154700
7046	TGFBR1	HP:0000486	Strabismus	17/37	OMIM:182212
7046	TGFBR1	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:609192
7046	TGFBR1	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
7046	TGFBR1	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
7046	TGFBR1	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
7046	TGFBR1	HP:0000490	Deeply set eye	25/63	OMIM:154700
7046	TGFBR1	HP:0000463	Anteverted nares	9/37	OMIM:182212
7046	TGFBR1	HP:0001786	Narrow foot	33/53	OMIM:154700
7046	TGFBR1	HP:0000470	Short neck	-	OMIM:121050
7046	TGFBR1	HP:0000470	Short neck	1/7	OMIM:615777
7046	TGFBR1	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0012432	Chronic fatigue	1/1	OMIM:609192
7046	TGFBR1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7046	TGFBR1	HP:0001763	Pes planus	HP:0040281	ORPHA:60030
7046	TGFBR1	HP:0001763	Pes planus	2/2	OMIM:609192
7046	TGFBR1	HP:0001763	Pes planus	27/53	OMIM:154700
7046	TGFBR1	HP:0001763	Pes planus	1/7	OMIM:615777
7046	TGFBR1	HP:0001763	Pes planus	-	OMIM:182212
7046	TGFBR1	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
7046	TGFBR1	HP:0001765	Hammertoe	-	OMIM:154700
7046	TGFBR1	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
7046	TGFBR1	HP:0000418	Narrow nasal ridge	-	OMIM:130050
7046	TGFBR1	HP:0000411	Protruding ear	2/3	OMIM:609192
7046	TGFBR1	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
7046	TGFBR1	HP:0001762	Talipes equinovarus	16/35	OMIM:609192
7046	TGFBR1	HP:0001762	Talipes equinovarus	-	OMIM:130050
7046	TGFBR1	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:60030
7046	TGFBR1	HP:0001762	Talipes equinovarus	0/18	OMIM:132800
7046	TGFBR1	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
7046	TGFBR1	HP:0001761	Pes cavus	49/146	OMIM:154700
7046	TGFBR1	HP:0000518	Cataract	118/199	OMIM:154700
7046	TGFBR1	HP:0001840	Metatarsus adductus	-	OMIM:121050
7046	TGFBR1	HP:0001840	Metatarsus adductus	-	OMIM:182212
7046	TGFBR1	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
7046	TGFBR1	HP:0001840	Metatarsus adductus	-	OMIM:615777
7046	TGFBR1	HP:0001842	Foot acroosteolysis	-	OMIM:130050
7046	TGFBR1	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
7046	TGFBR1	HP:0000520	Proptosis	2/4	OMIM:131300
7046	TGFBR1	HP:0000520	Proptosis	6/15	OMIM:609192
7046	TGFBR1	HP:0000520	Proptosis	7/7	OMIM:615777
7046	TGFBR1	HP:0000520	Proptosis	29/37	OMIM:182212
7046	TGFBR1	HP:0000506	Telecanthus	-	OMIM:182212
7046	TGFBR1	HP:0000508	Ptosis	1/2	OMIM:609192
7046	TGFBR1	HP:0000508	Ptosis	16/37	OMIM:182212
7046	TGFBR1	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
7046	TGFBR1	HP:0000501	Glaucoma	29/625	OMIM:154700
7046	TGFBR1	HP:0000581	Blepharophimosis	-	OMIM:208050
7046	TGFBR1	HP:0000577	Exotropia	72/626	OMIM:154700
7046	TGFBR1	HP:0000577	Exotropia	2/4	OMIM:609192
7046	TGFBR1	HP:0000592	Blue sclerae	2/7	OMIM:615777
7046	TGFBR1	HP:0000592	Blue sclerae	HP:0040282	ORPHA:60030
7046	TGFBR1	HP:0000592	Blue sclerae	14/36	OMIM:609192
7046	TGFBR1	HP:0000586	Shallow orbits	13/37	OMIM:182212
7046	TGFBR1	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:60030
7046	TGFBR1	HP:0000563	Keratoconus	-	OMIM:130050
7046	TGFBR1	HP:0000563	Keratoconus	3/14	OMIM:208050
7046	TGFBR1	HP:0011220	Prominent forehead	17/37	OMIM:182212
7046	TGFBR1	HP:0000565	Esotropia	12/573	OMIM:154700
7046	TGFBR1	HP:0000541	Retinal detachment	-	OMIM:154700
7046	TGFBR1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7046	TGFBR1	HP:0001883	Talipes	13/53	OMIM:154700
7046	TGFBR1	HP:0012514	Lower limb pain	4/4	OMIM:131300
7046	TGFBR1	HP:0000545	Myopia	-	OMIM:121050
7046	TGFBR1	HP:0000545	Myopia	6/15	OMIM:208050
7046	TGFBR1	HP:0000545	Myopia	HP:0040283	ORPHA:60030
7046	TGFBR1	HP:0000545	Myopia	93/251	OMIM:154700
7046	TGFBR1	HP:0000545	Myopia	9/37	OMIM:182212
7048	TGFBR2	HP:0009901	Crumpled ear	90/119	OMIM:121050
7048	TGFBR2	HP:0001181	Adducted thumb	42/90	OMIM:121050
7048	TGFBR2	HP:0001156	Brachydactyly	-	OMIM:610168
7048	TGFBR2	HP:0001166	Arachnodactyly	104/124	OMIM:121050
7048	TGFBR2	HP:0001166	Arachnodactyly	124/197	OMIM:154700
7048	TGFBR2	HP:0001166	Arachnodactyly	34/37	OMIM:182212
7048	TGFBR2	HP:0001166	Arachnodactyly	6/15	OMIM:208050
7048	TGFBR2	HP:0001166	Arachnodactyly	10/16	OMIM:610168
7048	TGFBR2	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:60030
7048	TGFBR2	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0001159	Syndactyly	HP:0040283	OMIM:610168
7048	TGFBR2	HP:0001123	Visual field defect	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0410151	Eosinophilic infiltration of the esophagus	HP:0040283	ORPHA:60030
7048	TGFBR2	HP:0410151	Eosinophilic infiltration of the esophagus	-	OMIM:610168
7048	TGFBR2	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0003745	Sporadic	-	OMIM:182212
7048	TGFBR2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
7048	TGFBR2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7048	TGFBR2	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
7048	TGFBR2	HP:0001297	Stroke	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0001293	Cranial nerve compression	-	OMIM:131300
7048	TGFBR2	HP:0001290	Generalized hypotonia	-	OMIM:208050
7048	TGFBR2	HP:0001290	Generalized hypotonia	-	OMIM:182212
7048	TGFBR2	HP:0001276	Hypertonia	HP:0040282	ORPHA:144
7048	TGFBR2	HP:0001270	Motor delay	-	OMIM:121050
7048	TGFBR2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0001250	Seizure	HP:0040282	ORPHA:144
7048	TGFBR2	HP:0001252	Hypotonia	HP:0040282	ORPHA:144
7048	TGFBR2	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
7048	TGFBR2	HP:0001252	Hypotonia	2/7	OMIM:615777
7048	TGFBR2	HP:0001252	Hypotonia	26/37	OMIM:182212
7048	TGFBR2	HP:0001249	Intellectual disability	2/10	OMIM:610168
7048	TGFBR2	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
7048	TGFBR2	HP:0001249	Intellectual disability	5/7	OMIM:615777
7048	TGFBR2	HP:0001249	Intellectual disability	-	OMIM:182212
7048	TGFBR2	HP:0001260	Dysarthria	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0001263	Global developmental delay	2/13	OMIM:610168
7048	TGFBR2	HP:0001263	Global developmental delay	-	OMIM:615777
7048	TGFBR2	HP:0001263	Global developmental delay	-	OMIM:182212
7048	TGFBR2	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
7048	TGFBR2	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
7048	TGFBR2	HP:0002515	Waddling gait	54/102	OMIM:131300
7048	TGFBR2	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:144
7048	TGFBR2	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
7048	TGFBR2	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
7048	TGFBR2	HP:0000098	Tall stature	-	OMIM:154700
7048	TGFBR2	HP:0000098	Tall stature	HP:0040282	ORPHA:60030
7048	TGFBR2	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0001377	Limited elbow extension	94/109	OMIM:121050
7048	TGFBR2	HP:0001377	Limited elbow extension	29/199	OMIM:154700
7048	TGFBR2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0001371	Flexion contracture	-	OMIM:208050
7048	TGFBR2	HP:0001371	Flexion contracture	-	OMIM:154700
7048	TGFBR2	HP:0001373	Joint dislocation	HP:0040283	ORPHA:60030
7048	TGFBR2	HP:0001382	Joint hypermobility	1/1	OMIM:130050
7048	TGFBR2	HP:0001382	Joint hypermobility	12/14	OMIM:208050
7048	TGFBR2	HP:0001382	Joint hypermobility	14/16	OMIM:610168
7048	TGFBR2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:60030
7048	TGFBR2	HP:0001382	Joint hypermobility	11/53	OMIM:154700
7048	TGFBR2	HP:0001382	Joint hypermobility	-	OMIM:615777
7048	TGFBR2	HP:0001382	Joint hypermobility	31/47	OMIM:182212
7048	TGFBR2	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0000023	Inguinal hernia	11/11	OMIM:130050
7048	TGFBR2	HP:0000023	Inguinal hernia	8/15	OMIM:208050
7048	TGFBR2	HP:0000023	Inguinal hernia	3/3	OMIM:610168
7048	TGFBR2	HP:0000023	Inguinal hernia	19/34	OMIM:182212
7048	TGFBR2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0001363	Craniosynostosis	3/11	OMIM:610168
7048	TGFBR2	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:60030
7048	TGFBR2	HP:0001363	Craniosynostosis	18/37	OMIM:182212
7048	TGFBR2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7048	TGFBR2	HP:0000028	Cryptorchidism	1/1	OMIM:130050
7048	TGFBR2	HP:0000028	Cryptorchidism	1/13	OMIM:182212
7048	TGFBR2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7048	TGFBR2	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:99977
7048	TGFBR2	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
7048	TGFBR2	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
7048	TGFBR2	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
7048	TGFBR2	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
7048	TGFBR2	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
7048	TGFBR2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7048	TGFBR2	HP:0001324	Muscle weakness	40/96	OMIM:131300
7048	TGFBR2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7048	TGFBR2	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
7048	TGFBR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7048	TGFBR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:610168
7048	TGFBR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
7048	TGFBR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
7048	TGFBR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614331
7048	TGFBR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
7048	TGFBR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7048	TGFBR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
7048	TGFBR2	HP:0002650	Scoliosis	11/16	OMIM:610168
7048	TGFBR2	HP:0002650	Scoliosis	16/53	OMIM:154700
7048	TGFBR2	HP:0002650	Scoliosis	11/15	OMIM:121050
7048	TGFBR2	HP:0002650	Scoliosis	12/14	OMIM:131300
7048	TGFBR2	HP:0002650	Scoliosis	3/15	OMIM:208050
7048	TGFBR2	HP:0002650	Scoliosis	HP:0040282	ORPHA:60030
7048	TGFBR2	HP:0002650	Scoliosis	23/37	OMIM:182212
7048	TGFBR2	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0002647	Aortic dissection	1/58	OMIM:154700
7048	TGFBR2	HP:0002647	Aortic dissection	HP:0040281	ORPHA:60030
7048	TGFBR2	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7048	TGFBR2	HP:0002619	Varicose veins	-	OMIM:130050
7048	TGFBR2	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
7048	TGFBR2	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
7048	TGFBR2	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
7048	TGFBR2	HP:0002616	Aortic root aneurysm	19/20	OMIM:610168
7048	TGFBR2	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0002617	Vascular dilatation	HP:0040281	ORPHA:60030
7048	TGFBR2	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
7048	TGFBR2	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
7048	TGFBR2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7048	TGFBR2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7048	TGFBR2	HP:0000189	Narrow palate	-	OMIM:182212
7048	TGFBR2	HP:0000189	Narrow palate	-	OMIM:154700
7048	TGFBR2	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:144
7048	TGFBR2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7048	TGFBR2	HP:0000193	Bifid uvula	0/14	OMIM:208050
7048	TGFBR2	HP:0000193	Bifid uvula	12/15	OMIM:610168
7048	TGFBR2	HP:0000193	Bifid uvula	HP:0040282	ORPHA:60030
7048	TGFBR2	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
7048	TGFBR2	HP:0012163	Carotid artery dilatation	2/40	OMIM:610168
7048	TGFBR2	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0012151	Hemothorax	3/4	OMIM:130050
7048	TGFBR2	HP:0000175	Cleft palate	4/13	OMIM:610168
7048	TGFBR2	HP:0000175	Cleft palate	HP:0040282	ORPHA:60030
7048	TGFBR2	HP:0000175	Cleft palate	2/7	OMIM:615777
7048	TGFBR2	HP:0000139	Uterine prolapse	-	OMIM:130050
7048	TGFBR2	HP:0012118	Laryngeal carcinoma	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
7048	TGFBR2	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
7048	TGFBR2	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
7048	TGFBR2	HP:0001442	Typified by somatic mosaicism	-	OMIM:133239
7048	TGFBR2	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
7048	TGFBR2	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
7048	TGFBR2	HP:0031252	Dilated left subclavian artery	3/10	OMIM:610168
7048	TGFBR2	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:99977
7048	TGFBR2	HP:0002024	Malabsorption	HP:0040281	ORPHA:144
7048	TGFBR2	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
7048	TGFBR2	HP:0002019	Constipation	HP:0040281	ORPHA:144
7048	TGFBR2	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:144
7048	TGFBR2	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:99977
7048	TGFBR2	HP:0002036	Hiatus hernia	-	OMIM:208050
7048	TGFBR2	HP:0002027	Abdominal pain	HP:0040281	ORPHA:144
7048	TGFBR2	HP:0002007	Frontal bossing	-	OMIM:121050
7048	TGFBR2	HP:0002007	Frontal bossing	-	OMIM:182212
7048	TGFBR2	HP:0003302	Spondylolisthesis	-	OMIM:154700
7048	TGFBR2	HP:0003302	Spondylolisthesis	-	OMIM:610168
7048	TGFBR2	HP:0002099	Asthma	HP:0040282	ORPHA:60030
7048	TGFBR2	HP:0002097	Emphysema	8/9	OMIM:130050
7048	TGFBR2	HP:0002097	Emphysema	HP:0040283	OMIM:154700
7048	TGFBR2	HP:0002076	Migraine	HP:0040282	ORPHA:144
7048	TGFBR2	HP:0030961	Microspherophakia	2/53	OMIM:154700
7048	TGFBR2	HP:0003388	Easy fatigability	36/76	OMIM:131300
7048	TGFBR2	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
7048	TGFBR2	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
7048	TGFBR2	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
7048	TGFBR2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7048	TGFBR2	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0010499	Patellar subluxation	12/22	OMIM:121050
7048	TGFBR2	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
7048	TGFBR2	HP:0009473	Joint contracture of the hand	-	OMIM:610168
7048	TGFBR2	HP:0002140	Ischemic stroke	-	OMIM:208050
7048	TGFBR2	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
7048	TGFBR2	HP:0002108	Spontaneous pneumothorax	HP:0040283	ORPHA:60030
7048	TGFBR2	HP:0002108	Spontaneous pneumothorax	-	OMIM:610168
7048	TGFBR2	HP:0002107	Pneumothorax	2/2	OMIM:130050
7048	TGFBR2	HP:0002107	Pneumothorax	6/53	OMIM:154700
7048	TGFBR2	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0002105	Hemoptysis	6/10	OMIM:130050
7048	TGFBR2	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0011934	Dilatation of mesenteric artery	1/6	OMIM:610168
7048	TGFBR2	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
7048	TGFBR2	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:60030
7048	TGFBR2	HP:0010526	Dysgraphia	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0003401	Paresthesia	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0003593	Infantile onset	1/1	OMIM:610168
7048	TGFBR2	HP:0003593	Infantile onset	5/16	OMIM:208050
7048	TGFBR2	HP:0003577	Congenital onset	2/3	OMIM:610168
7048	TGFBR2	HP:0003577	Congenital onset	5/5	OMIM:121050
7048	TGFBR2	HP:0003577	Congenital onset	12/26	OMIM:208050
7048	TGFBR2	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:144
7048	TGFBR2	HP:0100718	Uterine rupture	-	OMIM:130050
7048	TGFBR2	HP:0100718	Uterine rupture	HP:0040281	ORPHA:60030
7048	TGFBR2	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
7048	TGFBR2	HP:0004872	Incisional hernia	-	OMIM:154700
7048	TGFBR2	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
7048	TGFBR2	HP:0100775	Dural ectasia	112/140	OMIM:154700
7048	TGFBR2	HP:0100775	Dural ectasia	3/6	OMIM:610168
7048	TGFBR2	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0009720	Adenoma sebaceum	HP:0040281	ORPHA:144
7048	TGFBR2	HP:0009726	Renal neoplasm	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:144
7048	TGFBR2	HP:0100749	Chest pain	1/2	OMIM:130050
7048	TGFBR2	HP:0100749	Chest pain	HP:0040282	ORPHA:99977
7048	TGFBR2	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
7048	TGFBR2	HP:0002293	Alopecia of scalp	-	OMIM:130050
7048	TGFBR2	HP:0034671	Knee contracture	7/14	OMIM:121050
7048	TGFBR2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:144
7048	TGFBR2	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
7048	TGFBR2	HP:0010648	Dermal translucency	3/3	OMIM:130050
7048	TGFBR2	HP:0010648	Dermal translucency	7/13	OMIM:610168
7048	TGFBR2	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0003510	Severe short stature	7/7	OMIM:615777
7048	TGFBR2	HP:0007099	Chiari type I malformation	-	OMIM:182212
7048	TGFBR2	HP:0025019	Arterial rupture	-	OMIM:130050
7048	TGFBR2	HP:0001065	Striae distensae	11/53	OMIM:154700
7048	TGFBR2	HP:0001065	Striae distensae	-	OMIM:610168
7048	TGFBR2	HP:0001065	Striae distensae	HP:0040282	ORPHA:60030
7048	TGFBR2	HP:0001030	Fragile skin	-	OMIM:130050
7048	TGFBR2	HP:0001027	Soft, doughy skin	-	OMIM:208050
7048	TGFBR2	HP:0002376	Developmental regression	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0002354	Memory impairment	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0002315	Headache	-	OMIM:131300
7048	TGFBR2	HP:0004976	Knee dislocation	6/7	OMIM:615777
7048	TGFBR2	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0100645	Cystocele	-	OMIM:130050
7048	TGFBR2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0100684	Salivary gland neoplasm	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0100615	Ovarian neoplasm	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0100613	Death in early adulthood	HP:0040282	ORPHA:144
7048	TGFBR2	HP:0001073	Cigarette-paper scars	-	OMIM:130050
7048	TGFBR2	HP:0009803	Short phalanx of finger	-	OMIM:615777
7048	TGFBR2	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
7048	TGFBR2	HP:0001083	Ectopia lentis	119/251	OMIM:154700
7048	TGFBR2	HP:0001083	Ectopia lentis	0/44	OMIM:610168
7048	TGFBR2	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
7048	TGFBR2	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
7048	TGFBR2	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
7048	TGFBR2	HP:0009763	Limb pain	63/92	OMIM:131300
7048	TGFBR2	HP:0004959	Descending thoracic aorta aneurysm	5/49	OMIM:610168
7048	TGFBR2	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0004955	Generalized arterial tortuosity	-	OMIM:610168
7048	TGFBR2	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
7048	TGFBR2	HP:0003623	Neonatal onset	3/16	OMIM:208050
7048	TGFBR2	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
7048	TGFBR2	HP:0004970	Ascending tubular aorta aneurysm	17/40	OMIM:610168
7048	TGFBR2	HP:0002308	Chiari malformation	2/9	OMIM:610168
7048	TGFBR2	HP:0004937	Pulmonary artery aneurysm	6/51	OMIM:610168
7048	TGFBR2	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
7048	TGFBR2	HP:0004933	Ascending aortic dissection	23/47	OMIM:610168
7048	TGFBR2	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
7048	TGFBR2	HP:0003621	Juvenile onset	1/2	OMIM:610168
7048	TGFBR2	HP:0003621	Juvenile onset	-	OMIM:131300
7048	TGFBR2	HP:0003621	Juvenile onset	2/16	OMIM:208050
7048	TGFBR2	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
7048	TGFBR2	HP:0004944	Dilatation of the cerebral artery	5/50	OMIM:610168
7048	TGFBR2	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
7048	TGFBR2	HP:0004942	Aortic aneurysm	HP:0040281	ORPHA:60030
7048	TGFBR2	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
7048	TGFBR2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7048	TGFBR2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7048	TGFBR2	HP:6001056	Out-toeing	-	OMIM:131300
7048	TGFBR2	HP:0000651	Diplopia	-	OMIM:131300
7048	TGFBR2	HP:0001977	Abnormal thrombosis	-	OMIM:208050
7048	TGFBR2	HP:0001956	Truncal obesity	2/7	OMIM:615777
7048	TGFBR2	HP:0001903	Anemia	1/1	OMIM:130050
7048	TGFBR2	HP:0001903	Anemia	HP:0040283	OMIM:131300
7048	TGFBR2	HP:0010049	Short metacarpal	-	OMIM:615777
7048	TGFBR2	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
7048	TGFBR2	HP:0000678	Dental crowding	8/53	OMIM:154700
7048	TGFBR2	HP:0000678	Dental crowding	-	OMIM:615777
7048	TGFBR2	HP:0000689	Dental malocclusion	-	OMIM:182212
7048	TGFBR2	HP:0000670	Carious teeth	-	OMIM:131300
7048	TGFBR2	HP:0011304	Broad thumb	2/7	OMIM:615777
7048	TGFBR2	HP:0000668	Hypodontia	-	OMIM:615777
7048	TGFBR2	HP:0000664	Synophrys	-	OMIM:615777
7048	TGFBR2	HP:0004322	Short stature	-	OMIM:130050
7048	TGFBR2	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0003003	Colon cancer	HP:0040282	ORPHA:144
7048	TGFBR2	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
7048	TGFBR2	HP:0003088	Premature osteoarthritis	-	OMIM:154700
7048	TGFBR2	HP:0003083	Dislocated radial head	5/37	OMIM:182212
7048	TGFBR2	HP:0003066	Limited knee extension	38/45	OMIM:121050
7048	TGFBR2	HP:0004396	Poor appetite	-	OMIM:131300
7048	TGFBR2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7048	TGFBR2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7048	TGFBR2	HP:0004377	Hematological neoplasm	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0003042	Elbow dislocation	1/12	OMIM:121050
7048	TGFBR2	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
7048	TGFBR2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7048	TGFBR2	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0003026	Short long bone	7/7	OMIM:615777
7048	TGFBR2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7048	TGFBR2	HP:0005684	Distal arthrogryposis	-	OMIM:121050
7048	TGFBR2	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
7048	TGFBR2	HP:0012735	Cough	HP:0040282	ORPHA:99977
7048	TGFBR2	HP:0000767	Pectus excavatum	2/14	OMIM:121050
7048	TGFBR2	HP:0000767	Pectus excavatum	1/4	OMIM:130050
7048	TGFBR2	HP:0000767	Pectus excavatum	3/15	OMIM:208050
7048	TGFBR2	HP:0000767	Pectus excavatum	13/16	OMIM:610168
7048	TGFBR2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:60030
7048	TGFBR2	HP:0000767	Pectus excavatum	44/146	OMIM:154700
7048	TGFBR2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7048	TGFBR2	HP:0000767	Pectus excavatum	-	OMIM:182212
7048	TGFBR2	HP:0000766	Abnormal sternum morphology	7/10	OMIM:610168
7048	TGFBR2	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0000768	Pectus carinatum	4/14	OMIM:121050
7048	TGFBR2	HP:0000768	Pectus carinatum	2/15	OMIM:208050
7048	TGFBR2	HP:0000768	Pectus carinatum	11/16	OMIM:610168
7048	TGFBR2	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:60030
7048	TGFBR2	HP:0000768	Pectus carinatum	58/146	OMIM:154700
7048	TGFBR2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7048	TGFBR2	HP:0000768	Pectus carinatum	-	OMIM:182212
7048	TGFBR2	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7048	TGFBR2	HP:0000738	Hallucinations	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0000737	Irritability	HP:0040282	ORPHA:144
7048	TGFBR2	HP:0000739	Anxiety	HP:0040282	ORPHA:144
7048	TGFBR2	HP:0000750	Delayed speech and language development	-	OMIM:615777
7048	TGFBR2	HP:0000716	Depression	HP:0040282	ORPHA:144
7048	TGFBR2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:144
7048	TGFBR2	HP:0000704	Periodontitis	-	OMIM:130050
7048	TGFBR2	HP:0011459	Esophageal carcinoma	HP:0040281	ORPHA:99977
7048	TGFBR2	HP:0011459	Esophageal carcinoma	-	OMIM:133239
7048	TGFBR2	HP:0011463	Childhood onset	1/1	OMIM:610168
7048	TGFBR2	HP:0011463	Childhood onset	1/16	OMIM:208050
7048	TGFBR2	HP:0011462	Young adult onset	3/16	OMIM:208050
7048	TGFBR2	HP:0011461	Fetal onset	7/7	OMIM:615777
7048	TGFBR2	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
7048	TGFBR2	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
7048	TGFBR2	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
7048	TGFBR2	HP:0000774	Narrow chest	2/7	OMIM:615777
7048	TGFBR2	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
7048	TGFBR2	HP:0030745	Dilatation of the ductus arteriosus	0/1	OMIM:610168
7048	TGFBR2	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
7048	TGFBR2	HP:0030799	Scaphocephaly	-	OMIM:121050
7048	TGFBR2	HP:0003199	Decreased muscle mass	-	OMIM:154700
7048	TGFBR2	HP:0000926	Platyspondyly	1/7	OMIM:615777
7048	TGFBR2	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
7048	TGFBR2	HP:0003179	Protrusio acetabuli	-	OMIM:610168
7048	TGFBR2	HP:0003180	Flat acetabular roof	-	OMIM:615777
7048	TGFBR2	HP:0004482	Relative macrocephaly	-	OMIM:615777
7048	TGFBR2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7048	TGFBR2	HP:0000883	Thin ribs	-	OMIM:182212
7048	TGFBR2	HP:0000822	Hypertension	-	OMIM:208050
7048	TGFBR2	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
7048	TGFBR2	HP:0000823	Delayed puberty	-	OMIM:131300
7048	TGFBR2	HP:0000895	Lateral clavicle hook	-	OMIM:182212
7048	TGFBR2	HP:0000894	Short clavicles	-	OMIM:615777
7048	TGFBR2	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
7048	TGFBR2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7048	TGFBR2	HP:0034391	Elbow contracture	10/14	OMIM:121050
7048	TGFBR2	HP:0003273	Hip contracture	32/121	OMIM:121050
7048	TGFBR2	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
7048	TGFBR2	HP:0100259	Postaxial polydactyly	1/10	OMIM:610168
7048	TGFBR2	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
7048	TGFBR2	HP:0000978	Bruising susceptibility	-	OMIM:208050
7048	TGFBR2	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:60030
7048	TGFBR2	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0000977	Soft skin	7/15	OMIM:208050
7048	TGFBR2	HP:0000977	Soft skin	6/11	OMIM:610168
7048	TGFBR2	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
7048	TGFBR2	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
7048	TGFBR2	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
7048	TGFBR2	HP:0000973	Cutis laxa	5/14	OMIM:208050
7048	TGFBR2	HP:0000987	Atypical scarring of skin	HP:0040282	ORPHA:60030
7048	TGFBR2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7048	TGFBR2	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
7048	TGFBR2	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:60030
7048	TGFBR2	HP:0000963	Thin skin	4/13	OMIM:208050
7048	TGFBR2	HP:0000963	Thin skin	HP:0040283	ORPHA:60030
7048	TGFBR2	HP:0000939	Osteoporosis	1/1	OMIM:610168
7048	TGFBR2	HP:0000938	Osteopenia	-	OMIM:121050
7048	TGFBR2	HP:0000938	Osteopenia	-	OMIM:182212
7048	TGFBR2	HP:0005807	Absent distal phalanges	HP:0040283	OMIM:610168
7048	TGFBR2	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
7048	TGFBR2	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:144
7048	TGFBR2	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
7048	TGFBR2	HP:0000286	Epicanthus	1/7	OMIM:615777
7048	TGFBR2	HP:0025586	Hypertropia	8/573	OMIM:154700
7048	TGFBR2	HP:0000280	Coarse facial features	2/7	OMIM:615777
7048	TGFBR2	HP:0000278	Retrognathia	10/16	OMIM:610168
7048	TGFBR2	HP:0000278	Retrognathia	-	OMIM:154700
7048	TGFBR2	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0000260	Wide anterior fontanel	-	OMIM:182212
7048	TGFBR2	HP:0000275	Narrow face	-	OMIM:154700
7048	TGFBR2	HP:0000276	Long face	14/14	OMIM:208050
7048	TGFBR2	HP:0000276	Long face	-	OMIM:154700
7048	TGFBR2	HP:0000272	Malar flattening	9/14	OMIM:208050
7048	TGFBR2	HP:0000272	Malar flattening	9/14	OMIM:610168
7048	TGFBR2	HP:0000272	Malar flattening	HP:0040282	ORPHA:60030
7048	TGFBR2	HP:0000272	Malar flattening	31/53	OMIM:154700
7048	TGFBR2	HP:0000268	Dolichocephaly	-	OMIM:121050
7048	TGFBR2	HP:0000268	Dolichocephaly	36/53	OMIM:154700
7048	TGFBR2	HP:0000268	Dolichocephaly	28/37	OMIM:182212
7048	TGFBR2	HP:0005136	Mitral annular calcification	-	OMIM:154700
7048	TGFBR2	HP:0005116	Arterial tortuosity	HP:0040281	ORPHA:60030
7048	TGFBR2	HP:0005116	Arterial tortuosity	15/15	OMIM:610168
7048	TGFBR2	HP:0005113	Aortic arch aneurysm	1/40	OMIM:610168
7048	TGFBR2	HP:0005112	Abdominal aortic aneurysm	1/40	OMIM:610168
7048	TGFBR2	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0002816	Genu recurvatum	-	OMIM:182212
7048	TGFBR2	HP:0002816	Genu recurvatum	-	OMIM:154700
7048	TGFBR2	HP:0002827	Hip dislocation	3/7	OMIM:615777
7048	TGFBR2	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
7048	TGFBR2	HP:0000244	Brachyturricephaly	-	OMIM:182212
7048	TGFBR2	HP:0000238	Hydrocephalus	3/13	OMIM:610168
7048	TGFBR2	HP:0000238	Hydrocephalus	13/37	OMIM:182212
7048	TGFBR2	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0000252	Microcephaly	-	OMIM:615777
7048	TGFBR2	HP:0000252	Microcephaly	6/37	OMIM:182212
7048	TGFBR2	HP:0000248	Brachycephaly	-	OMIM:121050
7048	TGFBR2	HP:0000218	High palate	34/53	OMIM:154700
7048	TGFBR2	HP:0000218	High palate	30/102	OMIM:121050
7048	TGFBR2	HP:0000218	High palate	5/13	OMIM:208050
7048	TGFBR2	HP:0000218	High palate	30/37	OMIM:182212
7048	TGFBR2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
7048	TGFBR2	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0000233	Thin vermilion border	-	OMIM:130050
7048	TGFBR2	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0030009	Cervical insufficiency	-	OMIM:130050
7048	TGFBR2	HP:0002857	Genu valgum	-	OMIM:131300
7048	TGFBR2	HP:0002857	Genu valgum	4/37	OMIM:182212
7048	TGFBR2	HP:0001522	Death in infancy	HP:0040282	ORPHA:144
7048	TGFBR2	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
7048	TGFBR2	HP:0001537	Umbilical hernia	-	OMIM:208050
7048	TGFBR2	HP:0001537	Umbilical hernia	HP:0040283	OMIM:610168
7048	TGFBR2	HP:0001537	Umbilical hernia	13/37	OMIM:182212
7048	TGFBR2	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:60030
7048	TGFBR2	HP:0001533	Slender build	-	OMIM:131300
7048	TGFBR2	HP:0031364	Ecchymosis	-	OMIM:130050
7048	TGFBR2	HP:0001519	Disproportionate tall stature	-	OMIM:121050
7048	TGFBR2	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
7048	TGFBR2	HP:0001519	Disproportionate tall stature	4/15	OMIM:610168
7048	TGFBR2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7048	TGFBR2	HP:0007807	Optic nerve compression	-	OMIM:131300
7048	TGFBR2	HP:0007800	Increased axial length of the globe	-	OMIM:154700
7048	TGFBR2	HP:0012378	Fatigue	HP:0040281	ORPHA:144
7048	TGFBR2	HP:0012385	Camptodactyly	86/110	OMIM:121050
7048	TGFBR2	HP:0012385	Camptodactyly	9/14	OMIM:610168
7048	TGFBR2	HP:0012385	Camptodactyly	19/53	OMIM:154700
7048	TGFBR2	HP:0012385	Camptodactyly	24/37	OMIM:182212
7048	TGFBR2	HP:0000387	Absent earlobe	-	OMIM:130050
7048	TGFBR2	HP:0012368	Flat face	7/7	OMIM:615777
7048	TGFBR2	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
7048	TGFBR2	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
7048	TGFBR2	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
7048	TGFBR2	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
7048	TGFBR2	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:99977
7048	TGFBR2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7048	TGFBR2	HP:0005182	Bicuspid pulmonary valve	0/1	OMIM:610168
7048	TGFBR2	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
7048	TGFBR2	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
7048	TGFBR2	HP:0006480	Premature loss of teeth	-	OMIM:130050
7048	TGFBR2	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
7048	TGFBR2	HP:0000365	Hearing impairment	10/67	OMIM:131300
7048	TGFBR2	HP:0001695	Cardiac arrest	HP:0040283	ORPHA:60030
7048	TGFBR2	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
7048	TGFBR2	HP:0000369	Low-set ears	32/37	OMIM:182212
7048	TGFBR2	HP:0000343	Long philtrum	-	OMIM:208050
7048	TGFBR2	HP:0000343	Long philtrum	1/7	OMIM:615777
7048	TGFBR2	HP:0011001	Increased bone mineral density	-	OMIM:131300
7048	TGFBR2	HP:0002999	Patellar dislocation	2/20	OMIM:121050
7048	TGFBR2	HP:0000347	Micrognathia	-	OMIM:610168
7048	TGFBR2	HP:0000347	Micrognathia	-	OMIM:154700
7048	TGFBR2	HP:0000347	Micrognathia	26/94	OMIM:121050
7048	TGFBR2	HP:0000347	Micrognathia	5/14	OMIM:208050
7048	TGFBR2	HP:0000347	Micrognathia	HP:0040282	ORPHA:60030
7048	TGFBR2	HP:0000347	Micrognathia	33/37	OMIM:182212
7048	TGFBR2	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
7048	TGFBR2	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
7048	TGFBR2	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
7048	TGFBR2	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
7048	TGFBR2	HP:0001647	Bicuspid aortic valve	0/1	OMIM:610168
7048	TGFBR2	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0000316	Hypertelorism	16/17	OMIM:610168
7048	TGFBR2	HP:0000316	Hypertelorism	6/16	OMIM:208050
7048	TGFBR2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:60030
7048	TGFBR2	HP:0000316	Hypertelorism	28/37	OMIM:182212
7048	TGFBR2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
7048	TGFBR2	HP:0001643	Patent ductus arteriosus	0/1	OMIM:610168
7048	TGFBR2	HP:0001643	Patent ductus arteriosus	HP:0040281	ORPHA:60030
7048	TGFBR2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0000311	Round face	2/7	OMIM:615777
7048	TGFBR2	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
7048	TGFBR2	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
7048	TGFBR2	HP:0001659	Aortic regurgitation	-	OMIM:208050
7048	TGFBR2	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
7048	TGFBR2	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
7048	TGFBR2	HP:0001653	Mitral regurgitation	-	OMIM:121050
7048	TGFBR2	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
7048	TGFBR2	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:60030
7048	TGFBR2	HP:0001655	Patent foramen ovale	1/2	OMIM:610168
7048	TGFBR2	HP:0001629	Ventricular septal defect	-	OMIM:121050
7048	TGFBR2	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
7048	TGFBR2	HP:0002970	Genu varum	-	OMIM:615777
7048	TGFBR2	HP:0001635	Congestive heart failure	-	OMIM:154700
7048	TGFBR2	HP:0001631	Atrial septal defect	-	OMIM:121050
7048	TGFBR2	HP:0001631	Atrial septal defect	3/13	OMIM:610168
7048	TGFBR2	HP:0000303	Mandibular prognathia	-	OMIM:131300
7048	TGFBR2	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
7048	TGFBR2	HP:0001634	Mitral valve prolapse	-	OMIM:130050
7048	TGFBR2	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
7048	TGFBR2	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
7048	TGFBR2	HP:0001634	Mitral valve prolapse	3/13	OMIM:610168
7048	TGFBR2	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
7048	TGFBR2	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
7048	TGFBR2	HP:0012499	Descending aortic dissection	3/40	OMIM:610168
7048	TGFBR2	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
7048	TGFBR2	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
7048	TGFBR2	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
7048	TGFBR2	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
7048	TGFBR2	HP:0000400	Macrotia	7/15	OMIM:208050
7048	TGFBR2	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
7048	TGFBR2	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
7048	TGFBR2	HP:0005294	Arterial dissection	HP:0040281	ORPHA:60030
7048	TGFBR2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7048	TGFBR2	HP:0000483	Astigmatism	3/53	OMIM:154700
7048	TGFBR2	HP:0000483	Astigmatism	5/15	OMIM:208050
7048	TGFBR2	HP:0000486	Strabismus	110/573	OMIM:154700
7048	TGFBR2	HP:0000486	Strabismus	17/37	OMIM:182212
7048	TGFBR2	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
7048	TGFBR2	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
7048	TGFBR2	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
7048	TGFBR2	HP:0000490	Deeply set eye	25/63	OMIM:154700
7048	TGFBR2	HP:0000463	Anteverted nares	9/37	OMIM:182212
7048	TGFBR2	HP:0001786	Narrow foot	33/53	OMIM:154700
7048	TGFBR2	HP:0000470	Short neck	-	OMIM:121050
7048	TGFBR2	HP:0000470	Short neck	1/7	OMIM:615777
7048	TGFBR2	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7048	TGFBR2	HP:0001763	Pes planus	-	OMIM:610168
7048	TGFBR2	HP:0001763	Pes planus	HP:0040281	ORPHA:60030
7048	TGFBR2	HP:0001763	Pes planus	27/53	OMIM:154700
7048	TGFBR2	HP:0001763	Pes planus	1/7	OMIM:615777
7048	TGFBR2	HP:0001763	Pes planus	-	OMIM:182212
7048	TGFBR2	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
7048	TGFBR2	HP:0001765	Hammertoe	-	OMIM:154700
7048	TGFBR2	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
7048	TGFBR2	HP:0000418	Narrow nasal ridge	-	OMIM:130050
7048	TGFBR2	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
7048	TGFBR2	HP:0001762	Talipes equinovarus	-	OMIM:130050
7048	TGFBR2	HP:0001762	Talipes equinovarus	6/16	OMIM:610168
7048	TGFBR2	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:60030
7048	TGFBR2	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
7048	TGFBR2	HP:0001761	Pes cavus	49/146	OMIM:154700
7048	TGFBR2	HP:0006753	Neoplasm of the stomach	HP:0040282	ORPHA:144
7048	TGFBR2	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:614331
7048	TGFBR2	HP:0006758	Malignant genitourinary tract tumor	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0000518	Cataract	118/199	OMIM:154700
7048	TGFBR2	HP:0001840	Metatarsus adductus	-	OMIM:121050
7048	TGFBR2	HP:0001840	Metatarsus adductus	-	OMIM:182212
7048	TGFBR2	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
7048	TGFBR2	HP:0001840	Metatarsus adductus	-	OMIM:615777
7048	TGFBR2	HP:0001842	Foot acroosteolysis	-	OMIM:130050
7048	TGFBR2	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
7048	TGFBR2	HP:0000520	Proptosis	2/4	OMIM:131300
7048	TGFBR2	HP:0000520	Proptosis	8/11	OMIM:610168
7048	TGFBR2	HP:0000520	Proptosis	7/7	OMIM:615777
7048	TGFBR2	HP:0000520	Proptosis	29/37	OMIM:182212
7048	TGFBR2	HP:0001824	Weight loss	HP:0040281	ORPHA:144
7048	TGFBR2	HP:0000506	Telecanthus	-	OMIM:182212
7048	TGFBR2	HP:0000508	Ptosis	16/37	OMIM:182212
7048	TGFBR2	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
7048	TGFBR2	HP:0000505	Visual impairment	HP:0040283	ORPHA:144
7048	TGFBR2	HP:0000501	Glaucoma	29/625	OMIM:154700
7048	TGFBR2	HP:0000581	Blepharophimosis	-	OMIM:208050
7048	TGFBR2	HP:0000577	Exotropia	72/626	OMIM:154700
7048	TGFBR2	HP:0000577	Exotropia	6/10	OMIM:610168
7048	TGFBR2	HP:0000592	Blue sclerae	2/7	OMIM:615777
7048	TGFBR2	HP:0000592	Blue sclerae	7/13	OMIM:610168
7048	TGFBR2	HP:0000592	Blue sclerae	HP:0040282	ORPHA:60030
7048	TGFBR2	HP:0000586	Shallow orbits	13/37	OMIM:182212
7048	TGFBR2	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:60030
7048	TGFBR2	HP:0000563	Keratoconus	-	OMIM:130050
7048	TGFBR2	HP:0000563	Keratoconus	3/14	OMIM:208050
7048	TGFBR2	HP:0011220	Prominent forehead	17/37	OMIM:182212
7048	TGFBR2	HP:0000565	Esotropia	12/573	OMIM:154700
7048	TGFBR2	HP:0000541	Retinal detachment	-	OMIM:154700
7048	TGFBR2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7048	TGFBR2	HP:0001864	Clinodactyly of the 5th toe	HP:0040281	ORPHA:99977
7048	TGFBR2	HP:0001883	Talipes	13/53	OMIM:154700
7048	TGFBR2	HP:0012514	Lower limb pain	4/4	OMIM:131300
7048	TGFBR2	HP:0000545	Myopia	-	OMIM:121050
7048	TGFBR2	HP:0000545	Myopia	6/15	OMIM:208050
7048	TGFBR2	HP:0000545	Myopia	HP:0040283	ORPHA:60030
7048	TGFBR2	HP:0000545	Myopia	93/251	OMIM:154700
7048	TGFBR2	HP:0000545	Myopia	9/37	OMIM:182212
7049	TGFBR3	HP:0001123	Visual field defect	HP:0040282	ORPHA:231160
7049	TGFBR3	HP:0001269	Hemiparesis	HP:0040282	ORPHA:231160
7049	TGFBR3	HP:0001250	Seizure	HP:0040282	ORPHA:231160
7049	TGFBR3	HP:0002647	Aortic dissection	HP:0040283	ORPHA:231160
7049	TGFBR3	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:231160
7049	TGFBR3	HP:0002621	Atherosclerosis	HP:0040282	ORPHA:231160
7049	TGFBR3	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:231160
7049	TGFBR3	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:231160
7049	TGFBR3	HP:0007029	Cerebral berry aneurysm	HP:0040280	ORPHA:231160
7049	TGFBR3	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:231160
7049	TGFBR3	HP:0002326	Transient ischemic attack	HP:0040282	ORPHA:231160
7049	TGFBR3	HP:0000822	Hypertension	HP:0040282	ORPHA:231160
7049	TGFBR3	HP:0040197	Encephalomalacia	HP:0040283	ORPHA:231160
7049	TGFBR3	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:231160
7049	TGFBR3	HP:0012518	Abnormal circle of Willis morphology	HP:0040282	ORPHA:231160
7050	TGIF1	HP:0002465	Poor speech	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0002465	Poor speech	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0002465	Poor speech	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0002465	Poor speech	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0002474	Expressive language delay	HP:0040282	ORPHA:280195
7050	TGIF1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0002451	Limb dystonia	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0009932	Single naris	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0009932	Single naris	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0009932	Single naris	HP:0040284	ORPHA:93924
7050	TGIF1	HP:0009932	Single naris	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0009914	Cyclopia	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0009914	Cyclopia	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0009914	Cyclopia	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0009914	Cyclopia	HP:0040284	ORPHA:93924
7050	TGIF1	HP:0009914	Cyclopia	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0002418	Abnormal midbrain morphology	HP:0040282	ORPHA:280195
7050	TGIF1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:280195
7050	TGIF1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:280195
7050	TGIF1	HP:0001254	Lethargy	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0001254	Lethargy	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0001254	Lethargy	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0001254	Lethargy	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0001250	Seizure	1/1	OMIM:142946
7050	TGIF1	HP:0001250	Seizure	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0001250	Seizure	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0001250	Seizure	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0001250	Seizure	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0001250	Seizure	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280195
7050	TGIF1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280200
7050	TGIF1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0001257	Spasticity	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0001257	Spasticity	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0001257	Spasticity	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0001257	Spasticity	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0007375	Abnormal septum pellucidum morphology	HP:0040283	ORPHA:280195
7050	TGIF1	HP:0007330	Frontoethmoidal encephalocele	HP:0040283	ORPHA:280195
7050	TGIF1	HP:0002540	Inability to walk	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0002540	Inability to walk	HP:0040284	ORPHA:93924
7050	TGIF1	HP:0002540	Inability to walk	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0002540	Inability to walk	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0002507	Semilobar holoprosencephaly	1/2	OMIM:142946
7050	TGIF1	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0001371	Flexion contracture	HP:0040284	ORPHA:93924
7050	TGIF1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0001355	Megalencephaly	HP:0040283	ORPHA:280195
7050	TGIF1	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0001332	Dystonia	1/1	OMIM:142946
7050	TGIF1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:280195
7050	TGIF1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0001344	Absent speech	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0001344	Absent speech	HP:0040284	ORPHA:93924
7050	TGIF1	HP:0001344	Absent speech	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0001344	Absent speech	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:142946
7050	TGIF1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0002650	Scoliosis	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0002650	Scoliosis	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0000161	Median cleft upper lip	2/2	OMIM:142946
7050	TGIF1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0000175	Cleft palate	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0000175	Cleft palate	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:280200
7050	TGIF1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0006315	Solitary median maxillary central incisor	HP:0040284	ORPHA:93924
7050	TGIF1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0008947	Floppy infant	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0008947	Floppy infant	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0008947	Floppy infant	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0008947	Floppy infant	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:280195
7050	TGIF1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0002793	Abnormal pattern of respiration	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0000104	Renal agenesis	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0002019	Constipation	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0002019	Constipation	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0002019	Constipation	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0002019	Constipation	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0002033	Poor suck	HP:0040281	ORPHA:93926
7050	TGIF1	HP:0002033	Poor suck	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0002033	Poor suck	HP:0040281	ORPHA:93925
7050	TGIF1	HP:0002033	Poor suck	HP:0040281	ORPHA:220386
7050	TGIF1	HP:0002015	Dysphagia	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0002015	Dysphagia	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0002015	Dysphagia	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0002015	Dysphagia	HP:0040283	ORPHA:280195
7050	TGIF1	HP:0002015	Dysphagia	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0002013	Vomiting	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0002013	Vomiting	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0002013	Vomiting	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0002013	Vomiting	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0005968	Temperature instability	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0005968	Temperature instability	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0005968	Temperature instability	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0005968	Temperature instability	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0002099	Asthma	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280195
7050	TGIF1	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0003577	Congenital onset	2/2	OMIM:142946
7050	TGIF1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0100710	Impulsivity	HP:0040282	ORPHA:280195
7050	TGIF1	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0010654	Aplasia of the falx cerebri	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0010644	Midnasal stenosis	HP:0040281	ORPHA:280200
7050	TGIF1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93926
7050	TGIF1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93924
7050	TGIF1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93925
7050	TGIF1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:220386
7050	TGIF1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0001028	Hemangioma	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:280200
7050	TGIF1	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0020128	Aplasia of the olfactory tract	1/1	OMIM:142946
7050	TGIF1	HP:0010757	Aplasia of the premaxilla	1/1	OMIM:142946
7050	TGIF1	HP:0006870	Lobar holoprosencephaly	1/2	OMIM:142946
7050	TGIF1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0009099	Median cleft palate	2/2	OMIM:142946
7050	TGIF1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0000601	Hypotelorism	HP:0040282	ORPHA:280200
7050	TGIF1	HP:0000601	Hypotelorism	-	OMIM:142946
7050	TGIF1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93926
7050	TGIF1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93924
7050	TGIF1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93925
7050	TGIF1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:220386
7050	TGIF1	HP:0012650	Perisylvian polymicrogyria	HP:0040283	ORPHA:280195
7050	TGIF1	HP:0004322	Short stature	HP:0040281	ORPHA:220386
7050	TGIF1	HP:0004322	Short stature	HP:0040282	ORPHA:280200
7050	TGIF1	HP:0004322	Short stature	HP:0040281	ORPHA:93926
7050	TGIF1	HP:0004322	Short stature	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0004322	Short stature	HP:0040281	ORPHA:93925
7050	TGIF1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0031913	Rhombencephalosynapsis	HP:0040283	ORPHA:280195
7050	TGIF1	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:280195
7050	TGIF1	HP:0000737	Irritability	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0000737	Irritability	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0000737	Irritability	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0000737	Irritability	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0000739	Anxiety	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0000739	Anxiety	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0000739	Anxiety	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0000739	Anxiety	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0000736	Short attention span	HP:0040282	ORPHA:280195
7050	TGIF1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0000741	Apathy	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0000741	Apathy	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0000741	Apathy	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0000741	Apathy	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0000716	Depression	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0000716	Depression	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0000716	Depression	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0000716	Depression	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:280195
7050	TGIF1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0003196	Short nose	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0000873	Diabetes insipidus	2/2	OMIM:142946
7050	TGIF1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0000873	Diabetes insipidus	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0000863	Central diabetes insipidus	HP:0040282	ORPHA:280195
7050	TGIF1	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:280195
7050	TGIF1	HP:0012806	Proboscis	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0012806	Proboscis	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0012806	Proboscis	HP:0040284	ORPHA:93924
7050	TGIF1	HP:0012806	Proboscis	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0000826	Precocious puberty	HP:0040282	ORPHA:280195
7050	TGIF1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0045005	Neural tube defect	HP:0040284	ORPHA:93924
7050	TGIF1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0000252	Microcephaly	HP:0040283	ORPHA:280195
7050	TGIF1	HP:0000252	Microcephaly	2/2	OMIM:142946
7050	TGIF1	HP:0000252	Microcephaly	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0000252	Microcephaly	HP:0040282	ORPHA:280200
7050	TGIF1	HP:0000252	Microcephaly	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0000252	Microcephaly	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0000252	Microcephaly	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0000218	High palate	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0000218	High palate	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0000218	High palate	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0000218	High palate	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:280195
7050	TGIF1	HP:0002871	Central apnea	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0002871	Central apnea	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0002871	Central apnea	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0002871	Central apnea	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93926
7050	TGIF1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93925
7050	TGIF1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:220386
7050	TGIF1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:280200
7050	TGIF1	HP:0001510	Growth delay	HP:0040281	ORPHA:93926
7050	TGIF1	HP:0001510	Growth delay	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0001510	Growth delay	HP:0040281	ORPHA:93925
7050	TGIF1	HP:0001510	Growth delay	HP:0040281	ORPHA:220386
7050	TGIF1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:280195
7050	TGIF1	HP:0000322	Short philtrum	HP:0040282	ORPHA:280200
7050	TGIF1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93926
7050	TGIF1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93924
7050	TGIF1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93925
7050	TGIF1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:220386
7050	TGIF1	HP:0001622	Premature birth	HP:0040282	ORPHA:280200
7050	TGIF1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0005273	Absent nasal septal cartilage	1/1	OMIM:142946
7050	TGIF1	HP:0005280	Depressed nasal bridge	1/1	OMIM:142946
7050	TGIF1	HP:0000486	Strabismus	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93926
7050	TGIF1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93925
7050	TGIF1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:220386
7050	TGIF1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:280200
7050	TGIF1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93926
7050	TGIF1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93924
7050	TGIF1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93925
7050	TGIF1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:220386
7050	TGIF1	HP:0000437	Depressed nasal tip	1/1	OMIM:142946
7050	TGIF1	HP:0000453	Choanal atresia	HP:0040281	ORPHA:280200
7050	TGIF1	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:280200
7050	TGIF1	HP:0000508	Ptosis	-	OMIM:142946
7051	TGM1	HP:0100806	Sepsis	HP:0040283	ORPHA:313
7051	TGM1	HP:0007431	Congenital ichthyosiform erythroderma	7/17	OMIM:242300
7051	TGM1	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:313
7051	TGM1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:313
7051	TGM1	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:281122
7051	TGM1	HP:0001371	Flexion contracture	HP:0040283	OMIM:242300
7051	TGM1	HP:0007549	Desquamation of skin soon after birth	-	OMIM:242300
7051	TGM1	HP:0007559	Localized epidermolytic hyperkeratosis	HP:0040281	ORPHA:281127
7051	TGM1	HP:0007514	Edema of the dorsum of hands	HP:0040281	ORPHA:281127
7051	TGM1	HP:0012098	Edema of the dorsum of feet	HP:0040281	ORPHA:281127
7051	TGM1	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	14/17	OMIM:242300
7051	TGM1	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	HP:0040282	ORPHA:100976
7051	TGM1	HP:0007460	Autoamputation of digits	HP:0040282	ORPHA:100976
7051	TGM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:242300
7051	TGM1	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:313
7051	TGM1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:313
7051	TGM1	HP:0002164	Nail dysplasia	HP:0040283	OMIM:242300
7051	TGM1	HP:0003577	Congenital onset	17/17	OMIM:242300
7051	TGM1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:313
7051	TGM1	HP:0008404	Nail dystrophy	HP:0040283	OMIM:242300
7051	TGM1	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:100976
7051	TGM1	HP:0100758	Gangrene	HP:0040283	ORPHA:313
7051	TGM1	HP:0001036	Parakeratosis	-	OMIM:242300
7051	TGM1	HP:0001036	Parakeratosis	HP:0040282	ORPHA:100976
7051	TGM1	HP:0001019	Erythroderma	-	OMIM:242300
7051	TGM1	HP:0001019	Erythroderma	HP:0040282	ORPHA:100976
7051	TGM1	HP:0001019	Erythroderma	HP:0040281	ORPHA:79394
7051	TGM1	HP:0001019	Erythroderma	HP:0040281	ORPHA:313
7051	TGM1	HP:0200020	Corneal erosion	HP:0040282	ORPHA:79394
7051	TGM1	HP:0025092	Epidermal acanthosis	-	OMIM:242300
7051	TGM1	HP:0025092	Epidermal acanthosis	HP:0040281	ORPHA:100976
7051	TGM1	HP:0010829	Impaired temperature sensation	HP:0040282	ORPHA:100976
7051	TGM1	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:281127
7051	TGM1	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:313
7051	TGM1	HP:0001072	Thickened skin	HP:0040281	ORPHA:100976
7051	TGM1	HP:0010783	Erythema	HP:0040281	ORPHA:281127
7051	TGM1	HP:0001944	Dehydration	HP:0040283	ORPHA:313
7051	TGM1	HP:0000656	Ectropion	16/17	OMIM:242300
7051	TGM1	HP:0000656	Ectropion	HP:0040282	ORPHA:100976
7051	TGM1	HP:0000656	Ectropion	HP:0040281	ORPHA:79394
7051	TGM1	HP:0000656	Ectropion	HP:0040281	ORPHA:313
7051	TGM1	HP:0004322	Short stature	HP:0040283	ORPHA:313
7051	TGM1	HP:0004322	Short stature	HP:0040283	ORPHA:79394
7051	TGM1	HP:0000972	Palmoplantar hyperkeratosis	16/17	OMIM:242300
7051	TGM1	HP:0000972	Palmoplantar hyperkeratosis	HP:0040283	ORPHA:100976
7051	TGM1	HP:0000989	Pruritus	HP:0040281	ORPHA:313
7051	TGM1	HP:0000989	Pruritus	HP:0040281	ORPHA:79394
7051	TGM1	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:79394
7051	TGM1	HP:0000958	Dry skin	HP:0040281	ORPHA:313
7051	TGM1	HP:0000966	Hypohidrosis	HP:0040283	ORPHA:100976
7051	TGM1	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:79394
7051	TGM1	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:313
7051	TGM1	HP:0008070	Sparse hair	HP:0040283	OMIM:242300
7051	TGM1	HP:0008070	Sparse hair	HP:0040283	ORPHA:100976
7051	TGM1	HP:0008070	Sparse hair	HP:0040281	ORPHA:313
7051	TGM1	HP:0008064	Ichthyosis	17/17	OMIM:242300
7051	TGM1	HP:0008064	Ichthyosis	HP:0040281	ORPHA:281122
7051	TGM1	HP:0008064	Ichthyosis	HP:0040281	ORPHA:100976
7051	TGM1	HP:0008064	Ichthyosis	HP:0040281	ORPHA:313
7051	TGM1	HP:0008064	Ichthyosis	HP:0040281	ORPHA:79394
7051	TGM1	HP:0040189	Scaling skin	HP:0040281	ORPHA:100976
7051	TGM1	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:79394
7051	TGM1	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:313
7051	TGM1	HP:0001596	Alopecia	7/17	OMIM:242300
7051	TGM1	HP:0001596	Alopecia	HP:0040283	ORPHA:100976
7051	TGM1	HP:0001596	Alopecia	HP:0040282	ORPHA:79394
7051	TGM1	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:100976
7051	TGM1	HP:0025524	Palmoplantar scaling skin	HP:0040281	ORPHA:281127
7051	TGM1	HP:0025524	Palmoplantar scaling skin	-	ORPHA:100976
7051	TGM1	HP:0000232	Everted lower lip vermilion	-	OMIM:242300
7051	TGM1	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:313
7051	TGM1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79394
7051	TGM1	HP:0011039	Abnormal helix morphology	HP:0040282	ORPHA:313
7051	TGM1	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:313
7051	TGM1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:79394
7051	TGM1	HP:0012472	Eclabion	HP:0040282	ORPHA:100976
7051	TGM1	HP:0000491	Keratitis	HP:0040282	ORPHA:79394
7053	TGM3	HP:0001118	Juvenile cataract	-	OMIM:617251
7053	TGM3	HP:0002552	Trichodysplasia	HP:0040281	ORPHA:1410
7053	TGM3	HP:0000007	Autosomal recessive inheritance	-	OMIM:617251
7053	TGM3	HP:0003593	Infantile onset	-	OMIM:617251
7053	TGM3	HP:0002224	Woolly hair	HP:0040281	ORPHA:1410
7053	TGM3	HP:0002235	Pili canaliculi	-	OMIM:617251
7053	TGM3	HP:0002232	Patchy alopecia	HP:0040283	ORPHA:1410
7053	TGM3	HP:0002208	Coarse hair	HP:0040281	ORPHA:1410
7053	TGM3	HP:0011364	White hair	HP:0040281	ORPHA:1410
7053	TGM3	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:1410
7053	TGM3	HP:0030056	Uncombable hair	-	OMIM:617251
7054	TH	HP:0003785	Decreased CSF homovanillic acid concentration	-	OMIM:605407
7054	TH	HP:0003785	Decreased CSF homovanillic acid concentration	HP:0040282	ORPHA:101150
7054	TH	HP:0003781	Excessive salivation	HP:0040282	ORPHA:101150
7054	TH	HP:0002451	Limb dystonia	HP:0040282	ORPHA:101150
7054	TH	HP:0002451	Limb dystonia	-	OMIM:605407
7054	TH	HP:0002448	Progressive encephalopathy	HP:0040284	ORPHA:101150
7054	TH	HP:0007325	Generalized dystonia	HP:0040283	ORPHA:101150
7054	TH	HP:0001290	Generalized hypotonia	HP:0040284	ORPHA:101150
7054	TH	HP:0001270	Motor delay	-	OMIM:605407
7054	TH	HP:0001270	Motor delay	HP:0040282	ORPHA:101150
7054	TH	HP:0001254	Lethargy	HP:0040282	ORPHA:101150
7054	TH	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:101150
7054	TH	HP:0001252	Hypotonia	HP:0040282	ORPHA:101150
7054	TH	HP:0001251	Ataxia	HP:0040282	ORPHA:101150
7054	TH	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	-	OMIM:605407
7054	TH	HP:0003828	Variable expressivity	-	OMIM:605407
7054	TH	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:101150
7054	TH	HP:0000007	Autosomal recessive inheritance	-	OMIM:605407
7054	TH	HP:0001337	Tremor	-	OMIM:605407
7054	TH	HP:0001336	Myoclonus	HP:0040283	OMIM:605407
7054	TH	HP:0001336	Myoclonus	HP:0040282	ORPHA:101150
7054	TH	HP:0001300	Parkinsonism	HP:0040282	ORPHA:101150
7054	TH	HP:0001300	Parkinsonism	-	OMIM:605407
7054	TH	HP:0008936	Axial hypotonia	-	OMIM:605407
7054	TH	HP:0002019	Constipation	HP:0040282	ORPHA:101150
7054	TH	HP:0002067	Bradykinesia	HP:0040282	ORPHA:101150
7054	TH	HP:0002066	Gait ataxia	-	OMIM:605407
7054	TH	HP:0002066	Gait ataxia	HP:0040282	ORPHA:101150
7054	TH	HP:0002063	Rigidity	HP:0040282	ORPHA:101150
7054	TH	HP:0002063	Rigidity	-	OMIM:605407
7054	TH	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:101150
7054	TH	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:605407
7054	TH	HP:0003487	Babinski sign	HP:0040282	ORPHA:101150
7054	TH	HP:0002174	Postural tremor	HP:0040282	ORPHA:101150
7054	TH	HP:0010553	Oculogyric crisis	HP:0040282	ORPHA:101150
7054	TH	HP:0003593	Infantile onset	-	OMIM:605407
7054	TH	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:101150
7054	TH	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:101150
7054	TH	HP:0002375	Hypokinesia	-	OMIM:605407
7054	TH	HP:0002375	Hypokinesia	HP:0040282	ORPHA:101150
7054	TH	HP:0001945	Fever	HP:0040283	ORPHA:101150
7054	TH	HP:0004373	Focal dystonia	HP:0040282	ORPHA:101150
7054	TH	HP:0000737	Irritability	HP:0040282	ORPHA:101150
7054	TH	HP:0000750	Delayed speech and language development	-	OMIM:605407
7054	TH	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:101150
7054	TH	HP:0000298	Mask-like facies	-	OMIM:605407
7054	TH	HP:0030166	Night sweats	HP:0040282	ORPHA:101150
7054	TH	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:101150
7054	TH	HP:0001761	Pes cavus	HP:0040282	ORPHA:101150
7054	TH	HP:0000508	Ptosis	-	OMIM:605407
7054	TH	HP:0000508	Ptosis	HP:0040282	ORPHA:101150
7056	THBD	HP:0000093	Proteinuria	-	OMIM:612926
7056	THBD	HP:0000006	Autosomal dominant inheritance	-	OMIM:612926
7056	THBD	HP:0000006	Autosomal dominant inheritance	-	OMIM:614486
7056	THBD	HP:0002625	Deep venous thrombosis	1/2	OMIM:614486
7056	THBD	HP:0100519	Anuria	-	OMIM:612926
7056	THBD	HP:0003581	Adult onset	2/2	OMIM:614486
7056	THBD	HP:0002204	Pulmonary embolism	1/2	OMIM:614486
7056	THBD	HP:0100724	Hypercoagulability	-	OMIM:614486
7056	THBD	HP:0005575	Hemolytic-uremic syndrome	7/7	OMIM:612926
7056	THBD	HP:0001937	Microangiopathic hemolytic anemia	-	OMIM:612926
7056	THBD	HP:0001903	Anemia	-	OMIM:612926
7056	THBD	HP:0001919	Acute kidney injury	-	OMIM:612926
7056	THBD	HP:0000790	Hematuria	-	OMIM:612926
7056	THBD	HP:0003138	Increased blood urea nitrogen	-	OMIM:612926
7056	THBD	HP:0000822	Hypertension	HP:0040282	OMIM:612926
7056	THBD	HP:0003259	Elevated circulating creatinine concentration	-	OMIM:612926
7056	THBD	HP:0005421	Decreased circulating complement C3 concentration	3/7	OMIM:612926
7056	THBD	HP:0001873	Thrombocytopenia	-	OMIM:612926
7058	THBS2	HP:0001382	Joint hypermobility	3/3	OMIM:620865
7058	THBS2	HP:0012095	Multiple joint dislocation	3/3	OMIM:620865
7058	THBS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:620865
7058	THBS2	HP:0030976	Abnormal factor VIII activity	0/2	OMIM:620865
7058	THBS2	HP:0100550	Tendon rupture	3/3	OMIM:620865
7058	THBS2	HP:0011898	Abnormality of circulating fibrinogen	0/2	OMIM:620865
7058	THBS2	HP:0011873	Abnormal platelet count	0/3	OMIM:620865
7058	THBS2	HP:6000342	Thickened mitral valve cusp	1/1	OMIM:620865
7058	THBS2	HP:0008330	Reduced von Willebrand factor activity	0/2	OMIM:620865
7058	THBS2	HP:0001075	Atrophic scars	3/3	OMIM:620865
7058	THBS2	HP:0032199	Abnormal prothrombin time	0/3	OMIM:620865
7058	THBS2	HP:0004970	Ascending tubular aorta aneurysm	0/1	OMIM:620865
7058	THBS2	HP:0003010	Prolonged bleeding time	3/3	OMIM:620865
7058	THBS2	HP:0000978	Bruising susceptibility	3/3	OMIM:620865
7058	THBS2	HP:0000974	Hyperextensible skin	0/3	OMIM:620865
7058	THBS2	HP:0005113	Aortic arch aneurysm	1/1	OMIM:620865
7058	THBS2	HP:0025509	Piezogenic pedal papules	3/3	OMIM:620865
7058	THBS2	HP:0001638	Cardiomyopathy	0/3	OMIM:620865
7058	THBS2	HP:0005293	Venous insufficiency	2/2	OMIM:620865
7062	TCHH	HP:0000007	Autosomal recessive inheritance	-	OMIM:617252
7062	TCHH	HP:0002235	Pili canaliculi	1/1	OMIM:617252
7062	TCHH	HP:0002212	Curly hair	1/1	OMIM:617252
7062	TCHH	HP:0002299	Brittle hair	1/1	OMIM:617252
7062	TCHH	HP:0011463	Childhood onset	1/1	OMIM:617252
7062	TCHH	HP:0030056	Uncombable hair	1/1	OMIM:617252
7066	THPO	HP:0001123	Visual field defect	HP:0040283	ORPHA:71493
7066	THPO	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7066	THPO	HP:0001293	Cranial nerve compression	-	OMIM:131300
7066	THPO	HP:0001279	Syncope	HP:0040283	ORPHA:71493
7066	THPO	HP:0001250	Seizure	HP:0040283	ORPHA:71493
7066	THPO	HP:0001252	Hypotonia	2/7	OMIM:615777
7066	THPO	HP:0001249	Intellectual disability	5/7	OMIM:615777
7066	THPO	HP:0001260	Dysarthria	HP:0040283	ORPHA:71493
7066	THPO	HP:0001263	Global developmental delay	-	OMIM:615777
7066	THPO	HP:0002515	Waddling gait	54/102	OMIM:131300
7066	THPO	HP:0001382	Joint hypermobility	-	OMIM:615777
7066	THPO	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7066	THPO	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7066	THPO	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7066	THPO	HP:0001324	Muscle weakness	40/96	OMIM:131300
7066	THPO	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7066	THPO	HP:0000007	Autosomal recessive inheritance	-	OMIM:620481
7066	THPO	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7066	THPO	HP:0000006	Autosomal dominant inheritance	-	OMIM:620478
7066	THPO	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7066	THPO	HP:0000006	Autosomal dominant inheritance	-	OMIM:187950
7066	THPO	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:71493
7066	THPO	HP:0002650	Scoliosis	12/14	OMIM:131300
7066	THPO	HP:0002650	Scoliosis	HP:0040282	ORPHA:3319
7066	THPO	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7066	THPO	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7066	THPO	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7066	THPO	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7066	THPO	HP:0000175	Cleft palate	2/7	OMIM:615777
7066	THPO	HP:0006254	Elevated circulating alpha-fetoprotein concentration	0/1	OMIM:620481
7066	THPO	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:3319
7066	THPO	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:71493
7066	THPO	HP:0003388	Easy fatigability	36/76	OMIM:131300
7066	THPO	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7066	THPO	HP:0008148	Impaired epinephrine-induced platelet aggregation	3/3	OMIM:187950
7066	THPO	HP:0011902	Abnormal hemoglobin	HP:0040281	ORPHA:3319
7066	THPO	HP:0003401	Paresthesia	HP:0040282	ORPHA:71493
7066	THPO	HP:0003593	Infantile onset	1/5	OMIM:620481
7066	THPO	HP:0003577	Congenital onset	2/5	OMIM:620481
7066	THPO	HP:0004866	Impaired ADP-induced platelet aggregation	3/3	OMIM:187950
7066	THPO	HP:0100749	Chest pain	HP:0040282	ORPHA:71493
7066	THPO	HP:0008320	Impaired collagen-induced platelet aggregation	3/3	OMIM:187950
7066	THPO	HP:0003510	Severe short stature	7/7	OMIM:615777
7066	THPO	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:71493
7066	THPO	HP:0002321	Vertigo	HP:0040283	ORPHA:71493
7066	THPO	HP:0002315	Headache	HP:0040282	ORPHA:71493
7066	THPO	HP:0002315	Headache	-	OMIM:131300
7066	THPO	HP:0004976	Knee dislocation	6/7	OMIM:615777
7066	THPO	HP:0002326	Transient ischemic attack	HP:0040282	ORPHA:71493
7066	THPO	HP:0009803	Short phalanx of finger	-	OMIM:615777
7066	THPO	HP:0009763	Limb pain	63/92	OMIM:131300
7066	THPO	HP:0004936	Venous thrombosis	HP:0040281	ORPHA:71493
7066	THPO	HP:0003621	Juvenile onset	-	OMIM:131300
7066	THPO	HP:0004950	Peripheral arterial stenosis	HP:0040282	ORPHA:71493
7066	THPO	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7066	THPO	HP:0005528	Bone marrow hypocellularity	6/6	OMIM:620481
7066	THPO	HP:0005506	Chronic myelogenous leukemia	HP:0040283	ORPHA:71493
7066	THPO	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7066	THPO	HP:6001056	Out-toeing	-	OMIM:131300
7066	THPO	HP:0000651	Diplopia	-	OMIM:131300
7066	THPO	HP:0001956	Truncal obesity	2/7	OMIM:615777
7066	THPO	HP:0001903	Anemia	2/2	OMIM:620481
7066	THPO	HP:0001903	Anemia	HP:0040283	OMIM:131300
7066	THPO	HP:0001903	Anemia	HP:0040282	ORPHA:3319
7066	THPO	HP:0001915	Aplastic anemia	2/2	OMIM:620481
7066	THPO	HP:0010049	Short metacarpal	-	OMIM:615777
7066	THPO	HP:0000678	Dental crowding	-	OMIM:615777
7066	THPO	HP:0000670	Carious teeth	-	OMIM:131300
7066	THPO	HP:0011304	Broad thumb	2/7	OMIM:615777
7066	THPO	HP:0000668	Hypodontia	-	OMIM:615777
7066	THPO	HP:0000664	Synophrys	-	OMIM:615777
7066	THPO	HP:0004322	Short stature	HP:0040282	ORPHA:3319
7066	THPO	HP:0004331	Decreased skull ossification	HP:0040283	ORPHA:3319
7066	THPO	HP:0004396	Poor appetite	-	OMIM:131300
7066	THPO	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7066	THPO	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7066	THPO	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7066	THPO	HP:0003026	Short long bone	7/7	OMIM:615777
7066	THPO	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7066	THPO	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7066	THPO	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7066	THPO	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7066	THPO	HP:0000750	Delayed speech and language development	-	OMIM:615777
7066	THPO	HP:0011463	Childhood onset	2/5	OMIM:620481
7066	THPO	HP:0011461	Fetal onset	7/7	OMIM:615777
7066	THPO	HP:0000774	Narrow chest	2/7	OMIM:615777
7066	THPO	HP:0004420	Arterial thrombosis	HP:0040281	ORPHA:71493
7066	THPO	HP:0000926	Platyspondyly	1/7	OMIM:615777
7066	THPO	HP:0003180	Flat acetabular roof	-	OMIM:615777
7066	THPO	HP:0004482	Relative macrocephaly	-	OMIM:615777
7066	THPO	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7066	THPO	HP:0000823	Delayed puberty	-	OMIM:131300
7066	THPO	HP:0000894	Short clavicles	-	OMIM:615777
7066	THPO	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7066	THPO	HP:6000021	Decreased circulating thrombopoietin concentration	4/4	OMIM:620478
7066	THPO	HP:0000995	Melanocytic nevus	HP:0040282	ORPHA:3319
7066	THPO	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:71493
7066	THPO	HP:0000989	Pruritus	HP:0040282	ORPHA:71493
7066	THPO	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7066	THPO	HP:0000286	Epicanthus	1/7	OMIM:615777
7066	THPO	HP:0000280	Coarse facial features	HP:0040282	ORPHA:3319
7066	THPO	HP:0000280	Coarse facial features	2/7	OMIM:615777
7066	THPO	HP:0002827	Hip dislocation	3/7	OMIM:615777
7066	THPO	HP:0000252	Microcephaly	-	OMIM:615777
7066	THPO	HP:0002857	Genu valgum	-	OMIM:131300
7066	THPO	HP:0001533	Slender build	-	OMIM:131300
7066	THPO	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:71493
7066	THPO	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7066	THPO	HP:0007807	Optic nerve compression	-	OMIM:131300
7066	THPO	HP:0012368	Flat face	7/7	OMIM:615777
7066	THPO	HP:0005268	Miscarriage	HP:0040283	ORPHA:71493
7066	THPO	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7066	THPO	HP:0000365	Hearing impairment	10/67	OMIM:131300
7066	THPO	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:3319
7066	THPO	HP:0000343	Long philtrum	1/7	OMIM:615777
7066	THPO	HP:0011001	Increased bone mineral density	-	OMIM:131300
7066	THPO	HP:0000311	Round face	2/7	OMIM:615777
7066	THPO	HP:0002970	Genu varum	-	OMIM:615777
7066	THPO	HP:0000303	Mandibular prognathia	-	OMIM:131300
7066	THPO	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7066	THPO	HP:0000470	Short neck	HP:0040282	ORPHA:3319
7066	THPO	HP:0000470	Short neck	1/7	OMIM:615777
7066	THPO	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7066	THPO	HP:0001763	Pes planus	1/7	OMIM:615777
7066	THPO	HP:0001744	Splenomegaly	HP:0040282	ORPHA:71493
7066	THPO	HP:0001744	Splenomegaly	1/5	OMIM:187950
7066	THPO	HP:0030402	Abnormal platelet aggregation	0/2	OMIM:620478
7066	THPO	HP:0001840	Metatarsus adductus	-	OMIM:615777
7066	THPO	HP:0000520	Proptosis	2/4	OMIM:131300
7066	THPO	HP:0000520	Proptosis	7/7	OMIM:615777
7066	THPO	HP:0001824	Weight loss	HP:0040283	ORPHA:71493
7066	THPO	HP:0000592	Blue sclerae	2/7	OMIM:615777
7066	THPO	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:71493
7066	THPO	HP:0001892	Abnormal bleeding	4/14	OMIM:620478
7066	THPO	HP:0001894	Thrombocytosis	HP:0040281	ORPHA:71493
7066	THPO	HP:0001894	Thrombocytosis	9/9	OMIM:187950
7066	THPO	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7066	THPO	HP:0012514	Lower limb pain	4/4	OMIM:131300
7066	THPO	HP:0001873	Thrombocytopenia	10/10	OMIM:620478
7066	THPO	HP:0001873	Thrombocytopenia	7/7	OMIM:620481
7066	THPO	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:3319
7066	THPO	HP:0001876	Pancytopenia	5/5	OMIM:620481
7066	THPO	HP:0001875	Decreased total neutrophil count	2/2	OMIM:620481
7067	THRA	HP:0001374	Congenital hip dislocation	-	OMIM:614450
7067	THRA	HP:0000006	Autosomal dominant inheritance	-	OMIM:614450
7067	THRA	HP:0002645	Wormian bones	-	OMIM:614450
7067	THRA	HP:0000158	Macroglossia	-	OMIM:614450
7067	THRA	HP:0002750	Delayed skeletal maturation	-	OMIM:614450
7067	THRA	HP:0002019	Constipation	-	OMIM:614450
7067	THRA	HP:0002136	Broad-based gait	-	OMIM:614450
7067	THRA	HP:0002329	Drowsiness	-	OMIM:614450
7067	THRA	HP:0001903	Anemia	-	OMIM:614450
7067	THRA	HP:0000684	Delayed eruption of teeth	-	OMIM:614450
7067	THRA	HP:0004324	Increased body weight	-	OMIM:614450
7067	THRA	HP:0004482	Relative macrocephaly	-	OMIM:614450
7067	THRA	HP:0000851	Congenital hypothyroidism	-	OMIM:614450
7067	THRA	HP:0000958	Dry skin	-	OMIM:614450
7067	THRA	HP:0031418	Increased body mass index	-	OMIM:614450
7067	THRA	HP:0001539	Omphalocele	-	OMIM:614450
7067	THRA	HP:0001510	Growth delay	-	OMIM:614450
7067	THRA	HP:0001609	Hoarse voice	-	OMIM:614450
7067	THRA	HP:0002930	Impaired sensitivity to thyroid hormone	-	OMIM:614450
7067	THRA	HP:0000316	Hypertelorism	-	OMIM:614450
7067	THRA	HP:0012559	Increased T3/T4 ratio	-	OMIM:614450
7068	THRB	HP:0031098	Decreased thyroid-stimulating hormone level	-	ORPHA:566243
7068	THRB	HP:0025379	Anti-thyroid peroxidase antibody positivity	HP:0040282	ORPHA:566243
7068	THRB	HP:0025379	Anti-thyroid peroxidase antibody positivity	1/1	OMIM:274300
7068	THRB	HP:0001328	Specific learning disability	HP:0040282	ORPHA:566243
7068	THRB	HP:0000007	Autosomal recessive inheritance	-	OMIM:274300
7068	THRB	HP:0000006	Autosomal dominant inheritance	-	OMIM:188570
7068	THRB	HP:0000006	Autosomal dominant inheritance	-	OMIM:145650
7068	THRB	HP:0025484	Increased circulating thyroglobulin concentration	HP:0040283	ORPHA:566243
7068	THRB	HP:0025484	Increased circulating thyroglobulin concentration	2/2	OMIM:188570
7068	THRB	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:566243
7068	THRB	HP:0005978	Type II diabetes mellitus	1/1	OMIM:274300
7068	THRB	HP:0011788	Increased circulating free T3	HP:0040282	ORPHA:566243
7068	THRB	HP:0011788	Increased circulating free T3	2/2	OMIM:188570
7068	THRB	HP:0008223	Compensated hypothyroidism	1/1	OMIM:274300
7068	THRB	HP:0010655	Epiphyseal stippling	-	OMIM:274300
7068	THRB	HP:0007018	Attention deficit hyperactivity disorder	1/1	OMIM:274300
7068	THRB	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:566243
7068	THRB	HP:0007018	Attention deficit hyperactivity disorder	1/2	OMIM:188570
7068	THRB	HP:0032069	Anti-thyroglobulin antibody positivity	HP:0040282	ORPHA:566243
7068	THRB	HP:0032069	Anti-thyroglobulin antibody positivity	1/2	OMIM:274300
7068	THRB	HP:0003621	Juvenile onset	1/1	OMIM:274300
7068	THRB	HP:0001962	Palpitations	HP:0040283	ORPHA:566243
7068	THRB	HP:0004324	Increased body weight	1/1	OMIM:274300
7068	THRB	HP:0034189	Anti-thyroid-stimulating hormone receptor antibody positivity	1/2	OMIM:274300
7068	THRB	HP:0000752	Hyperactivity	HP:0040282	ORPHA:566243
7068	THRB	HP:0000739	Anxiety	HP:0040282	ORPHA:566243
7068	THRB	HP:0000750	Delayed speech and language development	2/2	OMIM:188570
7068	THRB	HP:0011463	Childhood onset	2/2	OMIM:188570
7068	THRB	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:566243
7068	THRB	HP:0034288	Elevated circulating reverse T3 concentration	HP:0040282	ORPHA:566243
7068	THRB	HP:0000853	Goiter	2/2	OMIM:188570
7068	THRB	HP:0000853	Goiter	1/1	OMIM:274300
7068	THRB	HP:0000853	Goiter	HP:0040281	ORPHA:566243
7068	THRB	HP:0000836	Hyperthyroidism	-	OMIM:145650
7068	THRB	HP:0000819	Diabetes mellitus	1/1	OMIM:274300
7068	THRB	HP:0033075	Inappropriately normal thyroid-stimulating hormone level	HP:0040281	ORPHA:566243
7068	THRB	HP:0033077	Increased circulating free T4 concentration	HP:0040281	ORPHA:566243
7068	THRB	HP:0033077	Increased circulating free T4 concentration	1/1	OMIM:274300
7068	THRB	HP:0033077	Increased circulating free T4 concentration	2/2	OMIM:188570
7068	THRB	HP:0001530	Mild postnatal growth retardation	HP:0040283	ORPHA:566243
7068	THRB	HP:0001518	Small for gestational age	-	OMIM:274300
7068	THRB	HP:0031506	Increased circulating T4 concentration	1/1	OMIM:274300
7068	THRB	HP:0012378	Fatigue	1/1	OMIM:274300
7068	THRB	HP:0002930	Impaired sensitivity to thyroid hormone	-	OMIM:145650
7068	THRB	HP:0002930	Impaired sensitivity to thyroid hormone	-	OMIM:274300
7068	THRB	HP:0002930	Impaired sensitivity to thyroid hormone	2/2	OMIM:188570
7068	THRB	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	-	OMIM:145650
7068	THRB	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1/2	OMIM:274300
7068	THRB	HP:0000365	Hearing impairment	-	OMIM:274300
7068	THRB	HP:0001649	Tachycardia	HP:0040281	ORPHA:566243
7068	THRB	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:566243
7068	THRB	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:566243
7068	THRB	HP:0000520	Proptosis	-	OMIM:274300
7072	TIA1	HP:0002460	Distal muscle weakness	-	OMIM:604454
7072	TIA1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:603
7072	TIA1	HP:0001283	Bulbar palsy	3/9	OMIM:619133
7072	TIA1	HP:0007354	Amyotrophic lateral sclerosis	8/9	OMIM:619133
7072	TIA1	HP:0003805	Rimmed vacuoles	-	OMIM:604454
7072	TIA1	HP:0003805	Rimmed vacuoles	HP:0040282	ORPHA:603
7072	TIA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:604454
7072	TIA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:604454
7072	TIA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619133
7072	TIA1	HP:0008959	Distal upper limb muscle weakness	HP:0040281	ORPHA:603
7072	TIA1	HP:0008954	Intrinsic hand muscle atrophy	HP:0040281	ORPHA:603
7072	TIA1	HP:0003376	Steppage gait	-	OMIM:604454
7072	TIA1	HP:0003376	Steppage gait	HP:0040282	ORPHA:603
7072	TIA1	HP:0008180	Mildly elevated creatine kinase	-	OMIM:604454
7072	TIA1	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:603
7072	TIA1	HP:0002145	Frontotemporal dementia	5/9	OMIM:619133
7072	TIA1	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:603
7072	TIA1	HP:0003596	Middle age onset	3/9	OMIM:619133
7072	TIA1	HP:0003584	Late onset	5/9	OMIM:619133
7072	TIA1	HP:0003581	Adult onset	-	OMIM:604454
7072	TIA1	HP:0002381	Aphasia	3/9	OMIM:619133
7072	TIA1	HP:0003693	Distal amyotrophy	-	OMIM:604454
7072	TIA1	HP:0003690	Limb muscle weakness	2/9	OMIM:619133
7072	TIA1	HP:0002354	Memory impairment	1/9	OMIM:619133
7072	TIA1	HP:0003677	Slowly progressive	-	OMIM:604454
7072	TIA1	HP:0007149	Distal upper limb amyotrophy	HP:0040282	ORPHA:603
7072	TIA1	HP:0002312	Clumsiness	HP:0040282	ORPHA:603
7072	TIA1	HP:0009077	Weakness of long finger extensor muscles	HP:0040281	ORPHA:603
7072	TIA1	HP:0009027	Foot dorsiflexor weakness	HP:0040281	ORPHA:603
7072	TIA1	HP:0000751	Personality changes	1/9	OMIM:619133
7072	TIA1	HP:0011462	Young adult onset	1/9	OMIM:619133
7072	TIA1	HP:0003198	Myopathy	HP:0040281	ORPHA:603
7072	TIA1	HP:0100315	Lewy bodies	5/5	OMIM:619133
7072	TIA1	HP:0001638	Cardiomyopathy	-	ORPHA:603
7074	TIAM1	HP:0002444	Hypothalamic hamartoma	1/3	OMIM:619908
7074	TIAM1	HP:0001250	Seizure	5/5	OMIM:619908
7074	TIAM1	HP:0001249	Intellectual disability	4/4	OMIM:619908
7074	TIAM1	HP:0001263	Global developmental delay	5/5	OMIM:619908
7074	TIAM1	HP:0008770	Obsessive-compulsive trait	1/4	OMIM:619908
7074	TIAM1	HP:0002506	Diffuse cerebral atrophy	1/3	OMIM:619908
7074	TIAM1	HP:0000028	Cryptorchidism	2/4	OMIM:619908
7074	TIAM1	HP:0033725	Thin corpus callosum	1/3	OMIM:619908
7074	TIAM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619908
7074	TIAM1	HP:0008936	Axial hypotonia	1/4	OMIM:619908
7074	TIAM1	HP:0003429	CNS hypomyelination	1/3	OMIM:619908
7074	TIAM1	HP:0003593	Infantile onset	2/5	OMIM:619908
7074	TIAM1	HP:0007018	Attention deficit hyperactivity disorder	2/2	OMIM:619908
7074	TIAM1	HP:0000750	Delayed speech and language development	5/5	OMIM:619908
7074	TIAM1	HP:0000729	Autistic behavior	2/2	OMIM:619908
7074	TIAM1	HP:0011463	Childhood onset	3/5	OMIM:619908
7074	TIAM1	HP:0000821	Hypothyroidism	3/4	OMIM:619908
7074	TIAM1	HP:0001510	Growth delay	1/5	OMIM:619908
7074	TIAM1	HP:0002917	Hypomagnesemia	1/4	OMIM:619908
7074	TIAM1	HP:0001629	Ventricular septal defect	1/5	OMIM:619908
7075	TIE1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619401
7075	TIE1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
7075	TIE1	HP:0002619	Varicose veins	-	OMIM:153400
7075	TIE1	HP:0000175	Cleft palate	5/39	OMIM:153400
7075	TIE1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
7075	TIE1	HP:0009743	Distichiasis	42/42	OMIM:153400
7075	TIE1	HP:0001004	Lymphedema	2/4	OMIM:619401
7075	TIE1	HP:0001004	Lymphedema	-	OMIM:153400
7075	TIE1	HP:0100658	Cellulitis	2/6	OMIM:153400
7075	TIE1	HP:0010741	Pedal edema	4/4	OMIM:619401
7075	TIE1	HP:0003621	Juvenile onset	2/3	OMIM:619401
7075	TIE1	HP:0000613	Photophobia	10/49	OMIM:153400
7075	TIE1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
7075	TIE1	HP:0000656	Ectropion	2/43	OMIM:153400
7075	TIE1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
7075	TIE1	HP:0011462	Young adult onset	1/3	OMIM:619401
7075	TIE1	HP:0012804	Corneal ulceration	-	OMIM:153400
7075	TIE1	HP:0010310	Chylothorax	1/6	OMIM:153400
7075	TIE1	HP:0011675	Arrhythmia	-	OMIM:153400
7075	TIE1	HP:0002808	Kyphosis	2/5	OMIM:153400
7075	TIE1	HP:0000204	Cleft upper lip	-	OMIM:153400
7075	TIE1	HP:0000347	Micrognathia	2/5	OMIM:153400
7075	TIE1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
7075	TIE1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
7075	TIE1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
7075	TIE1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
7075	TIE1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
7075	TIE1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
7075	TIE1	HP:0000465	Webbed neck	6/43	OMIM:153400
7075	TIE1	HP:0000509	Conjunctivitis	-	OMIM:153400
7075	TIE1	HP:0000508	Ptosis	2/39	OMIM:153400
7075	TIE1	HP:0000568	Microphthalmia	1/6	OMIM:153400
7078	TIMP3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
7078	TIMP3	HP:0001129	Large central visual field defect	HP:0040282	ORPHA:59181
7078	TIMP3	HP:0001141	Severely reduced visual acuity	HP:0040283	ORPHA:59181
7078	TIMP3	HP:0001105	Retinal atrophy	HP:0040283	ORPHA:59181
7078	TIMP3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
7078	TIMP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
7078	TIMP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:136900
7078	TIMP3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
7078	TIMP3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
7078	TIMP3	HP:0003621	Juvenile onset	8/19	OMIM:180100
7078	TIMP3	HP:0030500	Yellow/white lesions of the macula	HP:0040281	ORPHA:59181
7078	TIMP3	HP:0000618	Blindness	-	OMIM:136900
7078	TIMP3	HP:0000618	Blindness	HP:0040283	ORPHA:59181
7078	TIMP3	HP:0000610	Abnormal choroid morphology	HP:0040282	ORPHA:59181
7078	TIMP3	HP:0030491	Choriocapillaris atrophy	HP:0040282	ORPHA:59181
7078	TIMP3	HP:0000662	Nyctalopia	26/28	OMIM:180100
7078	TIMP3	HP:0000662	Nyctalopia	HP:0040282	ORPHA:59181
7078	TIMP3	HP:0030625	Hyporeflective spaces on macular OCT	HP:0040282	ORPHA:59181
7078	TIMP3	HP:0030602	Abnormal fundus autofluorescence imaging	HP:0040282	ORPHA:59181
7078	TIMP3	HP:0011463	Childhood onset	3/19	OMIM:180100
7078	TIMP3	HP:0011462	Young adult onset	8/19	OMIM:180100
7078	TIMP3	HP:0011462	Young adult onset	-	OMIM:136900
7078	TIMP3	HP:0011506	Choroidal neovascularization	HP:0040282	ORPHA:59181
7078	TIMP3	HP:0007722	Retinal pigment epithelial atrophy	HP:0040283	ORPHA:59181
7078	TIMP3	HP:0007754	Macular dystrophy	-	OMIM:136900
7078	TIMP3	HP:0007754	Macular dystrophy	HP:0040281	ORPHA:59181
7078	TIMP3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
7078	TIMP3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
7078	TIMP3	HP:0031528	Subretinal deposits	HP:0040281	ORPHA:59181
7078	TIMP3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
7078	TIMP3	HP:0000512	Abnormal electroretinogram	-	OMIM:136900
7078	TIMP3	HP:0000501	Glaucoma	-	OMIM:136900
7078	TIMP3	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:59181
7078	TIMP3	HP:0000575	Scotoma	5/18	OMIM:180100
7078	TIMP3	HP:0000572	Visual loss	HP:0040281	ORPHA:59181
7078	TIMP3	HP:0000533	Chorioretinal atrophy	-	OMIM:136900
7078	TIMP3	HP:0000533	Chorioretinal atrophy	HP:0040283	ORPHA:59181
7078	TIMP3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
7078	TIMP3	HP:0000545	Myopia	-	OMIM:180100
7080	NKX2-1	HP:0025179	Ground-glass opacification	5/13	OMIM:610978
7080	NKX2-1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:95713
7080	NKX2-1	HP:0001290	Generalized hypotonia	-	OMIM:610978
7080	NKX2-1	HP:0001274	Agenesis of corpus callosum	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0001270	Motor delay	-	OMIM:610978
7080	NKX2-1	HP:0001270	Motor delay	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0001270	Motor delay	4/4	OMIM:118700
7080	NKX2-1	HP:0001288	Gait disturbance	-	OMIM:610978
7080	NKX2-1	HP:0001288	Gait disturbance	-	OMIM:118700
7080	NKX2-1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1429
7080	NKX2-1	HP:0001254	Lethargy	HP:0040282	ORPHA:95713
7080	NKX2-1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0001252	Hypotonia	1/1	OMIM:610978
7080	NKX2-1	HP:0001252	Hypotonia	HP:0040281	ORPHA:95713
7080	NKX2-1	HP:0001251	Ataxia	1/1	OMIM:610978
7080	NKX2-1	HP:0001251	Ataxia	HP:0040282	ORPHA:209905
7080	NKX2-1	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:209905
7080	NKX2-1	HP:0001266	Choreoathetosis	2/2	OMIM:610978
7080	NKX2-1	HP:0001260	Dysarthria	2/2	OMIM:610978
7080	NKX2-1	HP:0001260	Dysarthria	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0001260	Dysarthria	HP:0040283	OMIM:118700
7080	NKX2-1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0001263	Global developmental delay	3/3	OMIM:610978
7080	NKX2-1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:95713
7080	NKX2-1	HP:0002527	Falls	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0000076	Vesicoureteral reflux	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0000047	Hypospadias	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0000021	Megacystis	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0002679	Abnormal sella turcica morphology	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0025394	Cystic pattern on pulmonary HRCT	1/13	OMIM:610978
7080	NKX2-1	HP:0001332	Dystonia	-	OMIM:610978
7080	NKX2-1	HP:0001332	Dystonia	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:95713
7080	NKX2-1	HP:0000006	Autosomal dominant inheritance	-	OMIM:188550
7080	NKX2-1	HP:0000006	Autosomal dominant inheritance	-	OMIM:118700
7080	NKX2-1	HP:0000006	Autosomal dominant inheritance	-	OMIM:610978
7080	NKX2-1	HP:0001336	Myoclonus	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:209905
7080	NKX2-1	HP:0002643	Neonatal respiratory distress	3/3	OMIM:610978
7080	NKX2-1	HP:0025483	Abnormal circulating thyroglobulin concentration	HP:0040281	ORPHA:95713
7080	NKX2-1	HP:0000158	Macroglossia	HP:0040281	ORPHA:95713
7080	NKX2-1	HP:0008947	Floppy infant	HP:0040282	ORPHA:209905
7080	NKX2-1	HP:0033850	Coldness	HP:0040282	ORPHA:95713
7080	NKX2-1	HP:0002789	Tachypnea	10/16	OMIM:610978
7080	NKX2-1	HP:0002019	Constipation	HP:0040281	ORPHA:95713
7080	NKX2-1	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:209905
7080	NKX2-1	HP:0002080	Intention tremor	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0002098	Respiratory distress	HP:0040282	ORPHA:209905
7080	NKX2-1	HP:0002098	Respiratory distress	-	OMIM:610978
7080	NKX2-1	HP:0002099	Asthma	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0002099	Asthma	HP:0040283	OMIM:610978
7080	NKX2-1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0002091	Restrictive ventilatory defect	2/5	OMIM:610978
7080	NKX2-1	HP:0002072	Chorea	4/4	OMIM:118700
7080	NKX2-1	HP:0002072	Chorea	HP:0040282	ORPHA:209905
7080	NKX2-1	HP:0011780	Thyroid hemiagenesis	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0008191	Thyroid agenesis	HP:0040281	ORPHA:95713
7080	NKX2-1	HP:0008188	Thyroid dysgenesis	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0002136	Broad-based gait	2/2	OMIM:610978
7080	NKX2-1	HP:0002113	Pulmonary infiltrates	7/13	OMIM:610978
7080	NKX2-1	HP:0002186	Apraxia	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0008223	Compensated hypothyroidism	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0008223	Compensated hypothyroidism	-	OMIM:610978
7080	NKX2-1	HP:0008213	Gonadotropin deficiency	1/2	OMIM:610978
7080	NKX2-1	HP:0008282	Unconjugated hyperbilirubinemia	HP:0040282	ORPHA:95713
7080	NKX2-1	HP:0003593	Infantile onset	2/4	OMIM:118700
7080	NKX2-1	HP:0003577	Congenital onset	-	OMIM:610978
7080	NKX2-1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0002205	Recurrent respiratory infections	1/1	OMIM:610978
7080	NKX2-1	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0002206	Pulmonary fibrosis	1/16	OMIM:610978
7080	NKX2-1	HP:0100786	Hypersomnia	HP:0040281	ORPHA:95713
7080	NKX2-1	HP:0100738	Abnormal eating behavior	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0100750	Atelectasis	2/13	OMIM:610978
7080	NKX2-1	HP:0100753	Schizophrenia	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:95713
7080	NKX2-1	HP:0002389	Cavum septum pellucidum	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0002360	Sleep abnormality	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0002360	Sleep abnormality	HP:0040283	OMIM:610978
7080	NKX2-1	HP:0002359	Frequent falls	1/4	OMIM:118700
7080	NKX2-1	HP:0009797	Cholesteatoma	2/16	OMIM:610978
7080	NKX2-1	HP:0032177	Parenchymal consolidation	4/6	OMIM:610978
7080	NKX2-1	HP:0003623	Neonatal onset	1/1	OMIM:610978
7080	NKX2-1	HP:0002311	Incoordination	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0002312	Clumsiness	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0001955	Unexplained fevers	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0000668	Hypodontia	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0004322	Short stature	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0004322	Short stature	HP:0040282	ORPHA:95713
7080	NKX2-1	HP:0004305	Involuntary movements	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0000752	Hyperactivity	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0012735	Cough	-	OMIM:610978
7080	NKX2-1	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:1429
7080	NKX2-1	HP:0000739	Anxiety	-	OMIM:118700
7080	NKX2-1	HP:0000736	Short attention span	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0000726	Dementia	0/4	OMIM:118700
7080	NKX2-1	HP:0000722	Compulsive behaviors	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:209905
7080	NKX2-1	HP:0011463	Childhood onset	2/4	OMIM:118700
7080	NKX2-1	HP:0000851	Congenital hypothyroidism	HP:0040282	ORPHA:209905
7080	NKX2-1	HP:0000851	Congenital hypothyroidism	-	OMIM:610978
7080	NKX2-1	HP:0000853	Goiter	-	OMIM:188550
7080	NKX2-1	HP:0000829	Hypoparathyroidism	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0000821	Hypothyroidism	HP:0040281	ORPHA:95713
7080	NKX2-1	HP:0000824	Decreased response to growth hormone stimulation test	1/2	OMIM:610978
7080	NKX2-1	HP:0000820	Abnormality of the thyroid gland	HP:0040281	ORPHA:209905
7080	NKX2-1	HP:0030874	Oxygen desaturation on exertion	5/6	OMIM:610978
7080	NKX2-1	HP:0003270	Abdominal distention	HP:0040281	ORPHA:95713
7080	NKX2-1	HP:0030828	Wheezing	-	OMIM:610978
7080	NKX2-1	HP:0030830	Crackles	-	OMIM:610978
7080	NKX2-1	HP:0040198	Non-medullary thyroid carcinoma	-	OMIM:188550
7080	NKX2-1	HP:0000282	Facial edema	HP:0040282	ORPHA:95713
7080	NKX2-1	HP:0000280	Coarse facial features	HP:0040281	ORPHA:95713
7080	NKX2-1	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:95713
7080	NKX2-1	HP:0030082	Abnormal drinking behavior	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0000239	Large fontanelles	HP:0040281	ORPHA:95713
7080	NKX2-1	HP:0000252	Microcephaly	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0002878	Respiratory failure	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0002895	Papillary thyroid carcinoma	-	OMIM:188550
7080	NKX2-1	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:95713
7080	NKX2-1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0001510	Growth delay	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0001510	Growth delay	HP:0040282	ORPHA:95713
7080	NKX2-1	HP:0012378	Fatigue	HP:0040281	ORPHA:95713
7080	NKX2-1	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:95713
7080	NKX2-1	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0001615	Hoarse cry	HP:0040282	ORPHA:95713
7080	NKX2-1	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	3/3	OMIM:610978
7080	NKX2-1	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0001655	Patent foramen ovale	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0001629	Ventricular septal defect	-	OMIM:610978
7080	NKX2-1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0001631	Atrial septal defect	-	OMIM:610978
7080	NKX2-1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0032976	Elevated bronchoalveolar lavage fluid lymphocyte proportion	1/6	OMIM:610978
7080	NKX2-1	HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion	3/6	OMIM:610978
7080	NKX2-1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:209905
7080	NKX2-1	HP:0000465	Webbed neck	HP:0040284	ORPHA:209905
7080	NKX2-1	HP:0012418	Hypoxemia	6/7	OMIM:610978
7084	TK2	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:254875
7084	TK2	HP:0008625	Severe sensorineural hearing impairment	HP:0040283	ORPHA:254875
7084	TK2	HP:0008610	Infantile sensorineural hearing impairment	HP:0040283	ORPHA:254875
7084	TK2	HP:0007269	Spinal muscular atrophy	HP:0040284	ORPHA:254875
7084	TK2	HP:0003737	Mitochondrial myopathy	HP:0040282	ORPHA:254886
7084	TK2	HP:0003737	Mitochondrial myopathy	2/2	OMIM:617069
7084	TK2	HP:0003701	Proximal muscle weakness	HP:0040283	ORPHA:254886
7084	TK2	HP:0003701	Proximal muscle weakness	2/2	OMIM:617069
7084	TK2	HP:0003700	Generalized amyotrophy	-	OMIM:609560
7084	TK2	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:254875
7084	TK2	HP:0001290	Generalized hypotonia	4/4	OMIM:609560
7084	TK2	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:254886
7084	TK2	HP:0001270	Motor delay	HP:0040282	ORPHA:254875
7084	TK2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:254875
7084	TK2	HP:0001283	Bulbar palsy	HP:0040283	ORPHA:254875
7084	TK2	HP:0001250	Seizure	-	OMIM:609560
7084	TK2	HP:0001252	Hypotonia	HP:0040282	ORPHA:254875
7084	TK2	HP:0001252	Hypotonia	-	OMIM:609560
7084	TK2	HP:0001251	Ataxia	HP:0040283	ORPHA:254886
7084	TK2	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:254886
7084	TK2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:254875
7084	TK2	HP:0001260	Dysarthria	HP:0040283	ORPHA:254875
7084	TK2	HP:0001260	Dysarthria	1/2	OMIM:617069
7084	TK2	HP:0002540	Inability to walk	-	OMIM:609560
7084	TK2	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	HP:0040283	ORPHA:254886
7084	TK2	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:254886
7084	TK2	HP:0003819	Death in childhood	2/4	OMIM:609560
7084	TK2	HP:0001349	Facial diplegia	-	OMIM:609560
7084	TK2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:254875
7084	TK2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:254875
7084	TK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617069
7084	TK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:609560
7084	TK2	HP:0002650	Scoliosis	HP:0040284	ORPHA:254875
7084	TK2	HP:0001488	Bilateral ptosis	HP:0040283	ORPHA:254875
7084	TK2	HP:0007641	Dyschromatopsia	HP:0040283	ORPHA:254886
7084	TK2	HP:0008945	Loss of ability to walk in early childhood	-	OMIM:609560
7084	TK2	HP:0025403	Stooped posture	HP:0040283	ORPHA:254886
7084	TK2	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:254875
7084	TK2	HP:0002747	Respiratory insufficiency due to muscle weakness	4/4	OMIM:609560
7084	TK2	HP:0003355	Aminoaciduria	-	OMIM:609560
7084	TK2	HP:0003326	Myalgia	HP:0040283	ORPHA:254875
7084	TK2	HP:0002015	Dysphagia	HP:0040282	ORPHA:254886
7084	TK2	HP:0002015	Dysphagia	HP:0040283	ORPHA:254875
7084	TK2	HP:0002015	Dysphagia	2/2	OMIM:617069
7084	TK2	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:254875
7084	TK2	HP:0005946	Ventilator dependence with inability to wean	HP:0040283	ORPHA:254875
7084	TK2	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:254886
7084	TK2	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:254875
7084	TK2	HP:0002098	Respiratory distress	HP:0040282	ORPHA:254875
7084	TK2	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:254875
7084	TK2	HP:0002067	Bradykinesia	HP:0040283	ORPHA:254886
7084	TK2	HP:0003390	Sensory axonal neuropathy	HP:0040282	ORPHA:254886
7084	TK2	HP:0003391	Gowers sign	-	OMIM:609560
7084	TK2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:254886
7084	TK2	HP:0002059	Cerebral atrophy	-	OMIM:609560
7084	TK2	HP:0002151	Increased circulating lactate concentration	1/2	OMIM:617069
7084	TK2	HP:0002134	Abnormal basal ganglia morphology	-	OMIM:609560
7084	TK2	HP:0003458	EMG: myopathic abnormalities	-	OMIM:609560
7084	TK2	HP:0011924	Decreased activity of mitochondrial complex III	-	OMIM:609560
7084	TK2	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	-	OMIM:609560
7084	TK2	HP:0011923	Decreased activity of mitochondrial complex I	-	OMIM:609560
7084	TK2	HP:0002197	Generalized-onset seizure	HP:0040282	ORPHA:254875
7084	TK2	HP:0002194	Delayed gross motor development	-	OMIM:609560
7084	TK2	HP:0003401	Paresthesia	HP:0040282	ORPHA:254886
7084	TK2	HP:0003596	Middle age onset	2/2	OMIM:617069
7084	TK2	HP:0003593	Infantile onset	3/4	OMIM:609560
7084	TK2	HP:0003552	Muscle stiffness	HP:0040283	ORPHA:254886
7084	TK2	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:254886
7084	TK2	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:254875
7084	TK2	HP:0008347	Decreased activity of mitochondrial complex IV	-	OMIM:609560
7084	TK2	HP:0010628	Facial palsy	HP:0040282	ORPHA:254886
7084	TK2	HP:0002396	Cogwheel rigidity	HP:0040283	ORPHA:254886
7084	TK2	HP:0003698	Difficulty standing	HP:0040282	ORPHA:254875
7084	TK2	HP:0002362	Shuffling gait	HP:0040283	ORPHA:254886
7084	TK2	HP:0003691	Scapular winging	HP:0040284	ORPHA:254886
7084	TK2	HP:0003691	Scapular winging	1/2	OMIM:617069
7084	TK2	HP:0003690	Limb muscle weakness	-	OMIM:609560
7084	TK2	HP:0003688	Cytochrome C oxidase-negative muscle fibers	HP:0040282	ORPHA:254886
7084	TK2	HP:0003688	Cytochrome C oxidase-negative muscle fibers	2/2	OMIM:617069
7084	TK2	HP:0002376	Developmental regression	HP:0040282	ORPHA:254875
7084	TK2	HP:0002345	Action tremor	HP:0040283	ORPHA:254886
7084	TK2	HP:0003676	Progressive	-	OMIM:609560
7084	TK2	HP:0002333	Motor deterioration	HP:0040281	ORPHA:254875
7084	TK2	HP:0100653	Optic neuritis	HP:0040283	ORPHA:254886
7084	TK2	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:254886
7084	TK2	HP:0007105	Infantile encephalopathy	HP:0040282	ORPHA:254875
7084	TK2	HP:0009073	Progressive proximal muscle weakness	HP:0040282	ORPHA:254875
7084	TK2	HP:0006887	Intellectual disability, progressive	-	OMIM:609560
7084	TK2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:254886
7084	TK2	HP:0000737	Irritability	-	OMIM:609560
7084	TK2	HP:0000716	Depression	HP:0040283	ORPHA:254886
7084	TK2	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1/1	OMIM:617069
7084	TK2	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	-	OMIM:609560
7084	TK2	HP:0011463	Childhood onset	1/4	OMIM:609560
7084	TK2	HP:0003198	Myopathy	HP:0040282	ORPHA:254886
7084	TK2	HP:0003198	Myopathy	HP:0040280	ORPHA:254875
7084	TK2	HP:0003128	Lactic acidosis	-	OMIM:609560
7084	TK2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040284	ORPHA:254886
7084	TK2	HP:0003236	Elevated circulating creatine kinase concentration	1/2	OMIM:617069
7084	TK2	HP:0003236	Elevated circulating creatine kinase concentration	4/4	OMIM:609560
7084	TK2	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:254875
7084	TK2	HP:0003202	Skeletal muscle atrophy	2/2	OMIM:617069
7084	TK2	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:254886
7084	TK2	HP:0003200	Ragged-red muscle fibers	2/2	OMIM:617069
7084	TK2	HP:0003200	Ragged-red muscle fibers	-	OMIM:609560
7084	TK2	HP:0100295	Muscle fiber atrophy	HP:0040283	ORPHA:254886
7084	TK2	HP:0000298	Mask-like facies	HP:0040282	ORPHA:254886
7084	TK2	HP:0002878	Respiratory failure	HP:0040282	ORPHA:254875
7084	TK2	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:254875
7084	TK2	HP:0006532	Recurrent pneumonia	HP:0040282	ORPHA:254875
7084	TK2	HP:0002936	Distal sensory impairment	HP:0040283	ORPHA:254886
7084	TK2	HP:0002921	Abnormal cerebrospinal fluid morphology	HP:0040283	ORPHA:254886
7084	TK2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:254886
7084	TK2	HP:0000365	Hearing impairment	-	OMIM:609560
7084	TK2	HP:0001621	Weak voice	HP:0040283	ORPHA:254886
7084	TK2	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:254886
7084	TK2	HP:0030319	Weakness of facial musculature	HP:0040283	ORPHA:254875
7084	TK2	HP:0030319	Weakness of facial musculature	1/2	OMIM:617069
7084	TK2	HP:0000479	Abnormal retinal morphology	HP:0040283	ORPHA:254886
7084	TK2	HP:0030237	Hand muscle weakness	HP:0040283	ORPHA:254886
7084	TK2	HP:0012432	Chronic fatigue	HP:0040282	ORPHA:254875
7084	TK2	HP:0000508	Ptosis	HP:0040283	ORPHA:254886
7084	TK2	HP:0000508	Ptosis	2/2	OMIM:617069
7084	TK2	HP:0000505	Visual impairment	HP:0040283	ORPHA:254886
7084	TK2	HP:0000597	Ophthalmoparesis	HP:0040283	ORPHA:254875
7084	TK2	HP:0000590	Progressive external ophthalmoplegia	HP:0040283	ORPHA:254875
7084	TK2	HP:0000590	Progressive external ophthalmoplegia	2/2	OMIM:617069
7084	TK2	HP:0000544	External ophthalmoplegia	HP:0040282	ORPHA:254886
7086	TKT	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:488618
7086	TKT	HP:0001252	Hypotonia	3/5	OMIM:617044
7086	TKT	HP:0001252	Hypotonia	HP:0040282	ORPHA:488618
7086	TKT	HP:0001249	Intellectual disability	3/5	OMIM:617044
7086	TKT	HP:0001263	Global developmental delay	5/5	OMIM:617044
7086	TKT	HP:0001263	Global developmental delay	HP:0040281	ORPHA:488618
7086	TKT	HP:0001344	Absent speech	HP:0040282	ORPHA:488618
7086	TKT	HP:0001344	Absent speech	2/5	OMIM:617044
7086	TKT	HP:0000007	Autosomal recessive inheritance	-	OMIM:617044
7086	TKT	HP:0410072	Increased level of ribose in urine	HP:0040282	ORPHA:488618
7086	TKT	HP:0000107	Renal cyst	HP:0040283	ORPHA:488618
7086	TKT	HP:0003577	Congenital onset	5/5	OMIM:617044
7086	TKT	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:488618
7086	TKT	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:488618
7086	TKT	HP:0100716	Self-injurious behavior	1/4	OMIM:617044
7086	TKT	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:488618
7086	TKT	HP:0007018	Attention deficit hyperactivity disorder	2/5	OMIM:617044
7086	TKT	HP:0003508	Proportionate short stature	5/5	OMIM:617044
7086	TKT	HP:0003508	Proportionate short stature	HP:0040281	ORPHA:488618
7086	TKT	HP:0001051	Seborrheic dermatitis	HP:0040283	ORPHA:488618
7086	TKT	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:488618
7086	TKT	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:488618
7086	TKT	HP:0000733	Motor stereotypy	1/5	OMIM:617044
7086	TKT	HP:0000750	Delayed speech and language development	5/5	OMIM:617044
7086	TKT	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:488618
7086	TKT	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:488618
7086	TKT	HP:0000722	Compulsive behaviors	2/5	OMIM:617044
7086	TKT	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:488618
7086	TKT	HP:0011686	Abnormal coronary artery course	HP:0040283	ORPHA:488618
7086	TKT	HP:0025550	Elevated circulating ribitol concentration	HP:0040281	ORPHA:488618
7086	TKT	HP:0000365	Hearing impairment	HP:0040283	ORPHA:488618
7086	TKT	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:488618
7086	TKT	HP:0001643	Patent ductus arteriosus	1/5	OMIM:617044
7086	TKT	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:488618
7086	TKT	HP:0001655	Patent foramen ovale	1/5	OMIM:617044
7086	TKT	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:488618
7086	TKT	HP:0001629	Ventricular septal defect	4/5	OMIM:617044
7086	TKT	HP:0001627	Abnormal heart morphology	HP:0040281	ORPHA:488618
7086	TKT	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:488618
7086	TKT	HP:0001631	Atrial septal defect	2/5	OMIM:617044
7086	TKT	HP:0000486	Strabismus	1/5	OMIM:617044
7086	TKT	HP:0000518	Cataract	HP:0040282	ORPHA:488618
7086	TKT	HP:0000519	Developmental cataract	2/5	OMIM:617044
7086	TKT	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:488618
7086	TKT	HP:0000554	Uveitis	HP:0040282	ORPHA:488618
7086	TKT	HP:0000554	Uveitis	2/5	OMIM:617044
7092	TLL1	HP:0001297	Stroke	HP:0040284	ORPHA:99103
7092	TLL1	HP:0001279	Syncope	HP:0040283	ORPHA:99106
7092	TLL1	HP:0001279	Syncope	HP:0040284	ORPHA:99103
7092	TLL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
7092	TLL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613087
7092	TLL1	HP:0031295	Left atrial enlargement	HP:0040283	ORPHA:99106
7092	TLL1	HP:0002795	Abnormal respiratory system physiology	HP:0040283	ORPHA:99106
7092	TLL1	HP:0002789	Tachypnea	HP:0040283	ORPHA:99106
7092	TLL1	HP:0002718	Recurrent bacterial infections	HP:0040284	ORPHA:99103
7092	TLL1	HP:0005957	Breathing dysregulation	HP:0040283	ORPHA:99103
7092	TLL1	HP:0002094	Dyspnea	HP:0040283	ORPHA:99106
7092	TLL1	HP:0002094	Dyspnea	HP:0040283	ORPHA:99103
7092	TLL1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:99106
7092	TLL1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:99103
7092	TLL1	HP:0002090	Pneumonia	HP:0040284	ORPHA:99103
7092	TLL1	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:99106
7092	TLL1	HP:0011710	Bundle branch block	HP:0040283	ORPHA:99103
7092	TLL1	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:99103
7092	TLL1	HP:0011705	First degree atrioventricular block	HP:0040282	ORPHA:99106
7092	TLL1	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:99103
7092	TLL1	HP:0002105	Hemoptysis	HP:0040283	ORPHA:99106
7092	TLL1	HP:0004749	Atrial flutter	HP:0040283	ORPHA:99103
7092	TLL1	HP:0004749	Atrial flutter	HP:0040283	ORPHA:99106
7092	TLL1	HP:0003577	Congenital onset	3/3	OMIM:613087
7092	TLL1	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:99106
7092	TLL1	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:99103
7092	TLL1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:99106
7092	TLL1	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:99106
7092	TLL1	HP:0100759	Clubbing of fingers	HP:0040283	ORPHA:99106
7092	TLL1	HP:0002326	Transient ischemic attack	HP:0040284	ORPHA:99103
7092	TLL1	HP:0010741	Pedal edema	HP:0040283	ORPHA:99103
7092	TLL1	HP:0004927	Pulmonary artery dilatation	HP:0040282	ORPHA:99106
7092	TLL1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
7092	TLL1	HP:0001962	Palpitations	HP:0040282	ORPHA:99106
7092	TLL1	HP:0001962	Palpitations	HP:0040282	ORPHA:99103
7092	TLL1	HP:0001907	Thromboembolism	HP:0040283	ORPHA:99106
7092	TLL1	HP:0012764	Orthopnea	HP:0040283	ORPHA:99103
7092	TLL1	HP:0004467	Preauricular pit	-	OMIM:187500
7092	TLL1	HP:0030718	Right atrial enlargement	HP:0040282	ORPHA:99103
7092	TLL1	HP:0030718	Right atrial enlargement	HP:0040283	ORPHA:99106
7092	TLL1	HP:0000961	Cyanosis	HP:0040283	ORPHA:99106
7092	TLL1	HP:0000961	Cyanosis	HP:0040284	ORPHA:99103
7092	TLL1	HP:0011675	Arrhythmia	HP:0040283	ORPHA:99103
7092	TLL1	HP:0012248	Prolonged PR interval	HP:0040282	ORPHA:99106
7092	TLL1	HP:0012250	ST segment depression	HP:0040283	ORPHA:99103
7092	TLL1	HP:0005133	Right ventricular dilatation	HP:0040283	ORPHA:99103
7092	TLL1	HP:0005133	Right ventricular dilatation	HP:0040282	ORPHA:99106
7092	TLL1	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:99103
7092	TLL1	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:99103
7092	TLL1	HP:0005110	Atrial fibrillation	HP:0040283	OMIM:613087
7092	TLL1	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:99106
7092	TLL1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:99103
7092	TLL1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:99106
7092	TLL1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:99106
7092	TLL1	HP:0012398	Peripheral edema	HP:0040283	ORPHA:99106
7092	TLL1	HP:0012378	Fatigue	HP:0040282	ORPHA:99106
7092	TLL1	HP:0012378	Fatigue	HP:0040282	ORPHA:99103
7092	TLL1	HP:0012382	Left-to-right shunt	HP:0040281	ORPHA:99103
7092	TLL1	HP:0006536	Airway obstruction	HP:0040284	ORPHA:99103
7092	TLL1	HP:0006536	Airway obstruction	HP:0040283	ORPHA:99106
7092	TLL1	HP:0005180	Tricuspid regurgitation	HP:0040282	ORPHA:99106
7092	TLL1	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:99103
7092	TLL1	HP:0005162	Abnormal left ventricular function	HP:0040283	ORPHA:99103
7092	TLL1	HP:0001694	Right-to-left shunt	HP:0040283	ORPHA:99106
7092	TLL1	HP:0000337	Broad forehead	-	OMIM:187500
7092	TLL1	HP:0001678	Atrioventricular block	HP:0040283	ORPHA:99106
7092	TLL1	HP:0001662	Bradycardia	HP:0040283	OMIM:613087
7092	TLL1	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:99106
7092	TLL1	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:99103
7092	TLL1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
7092	TLL1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:99106
7092	TLL1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:99103
7092	TLL1	HP:0001631	Atrial septal defect	3/3	OMIM:613087
7092	TLL1	HP:0001633	Abnormal mitral valve morphology	HP:0040283	ORPHA:99103
7092	TLL1	HP:0031658	Third heart sound	HP:0040282	ORPHA:99106
7092	TLL1	HP:0005317	Increased pulmonary vascular resistance	HP:0040284	ORPHA:99103
7092	TLL1	HP:0001708	Right ventricular failure	HP:0040284	ORPHA:99103
7092	TLL1	HP:0001712	Left ventricular hypertrophy	HP:0040282	ORPHA:99106
7092	TLL1	HP:0031595	Abnormal P wave	HP:0040282	ORPHA:99106
7092	TLL1	HP:0000520	Proptosis	-	OMIM:187500
7092	TLL1	HP:0031662	Fixed splitting of the second heart sound	HP:0040282	ORPHA:99106
7092	TLL1	HP:0031664	Systolic heart murmur	HP:0040282	ORPHA:99103
7092	TLL1	HP:0031664	Systolic heart murmur	HP:0040282	ORPHA:99106
7092	TLL1	HP:0031687	Abnormally loud pulmonic component of the second heart sound	HP:0040282	ORPHA:99106
7097	TLR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
7097	TLR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:246300
7097	TLR2	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
7097	TLR2	HP:0002715	Abnormality of the immune system	-	OMIM:246300
7097	TLR2	HP:0005584	Renal cell carcinoma	-	OMIM:114500
7097	TLR2	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
7097	TLR2	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
7097	TLR2	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
7097	TLR2	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
7098	TLR3	HP:0025143	Chills	HP:0040283	ORPHA:1930
7098	TLR3	HP:0001269	Hemiparesis	HP:0040284	OMIM:613002
7098	TLR3	HP:0001268	Mental deterioration	HP:0040284	OMIM:613002
7098	TLR3	HP:0001287	Meningitis	1/1	OMIM:613002
7098	TLR3	HP:0001289	Confusion	1/1	OMIM:613002
7098	TLR3	HP:0001254	Lethargy	-	OMIM:613002
7098	TLR3	HP:0001250	Seizure	1/1	OMIM:613002
7098	TLR3	HP:0001250	Seizure	HP:0040282	ORPHA:1930
7098	TLR3	HP:0001249	Intellectual disability	HP:0040284	OMIM:613002
7098	TLR3	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:1930
7098	TLR3	HP:0001259	Coma	HP:0040283	ORPHA:1930
7098	TLR3	HP:0003829	Typified by incomplete penetrance	-	OMIM:613002
7098	TLR3	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:1930
7098	TLR3	HP:0031179	Nuchal rigidity	HP:0040282	ORPHA:1930
7098	TLR3	HP:0000007	Autosomal recessive inheritance	-	OMIM:613002
7098	TLR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:613002
7098	TLR3	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:1930
7098	TLR3	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:1930
7098	TLR3	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:1930
7098	TLR3	HP:0002133	Status epilepticus	HP:0040283	ORPHA:1930
7098	TLR3	HP:0002181	Cerebral edema	HP:0040283	ORPHA:1930
7098	TLR3	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:1930
7098	TLR3	HP:0002171	Gliosis	-	OMIM:613002
7098	TLR3	HP:0011897	Increased total neutrophil count	HP:0040282	ORPHA:1930
7098	TLR3	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040282	ORPHA:1930
7098	TLR3	HP:0200149	CSF lymphocytic pleiocytosis	HP:0040281	ORPHA:1930
7098	TLR3	HP:0011972	Hypoglycorrhachia	HP:0040283	ORPHA:1930
7098	TLR3	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:1930
7098	TLR3	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1930
7098	TLR3	HP:0002353	EEG abnormality	-	OMIM:613002
7098	TLR3	HP:0002349	Focal aware seizure	HP:0040283	ORPHA:1930
7098	TLR3	HP:0002315	Headache	HP:0040282	ORPHA:1930
7098	TLR3	HP:0003621	Juvenile onset	1/1	OMIM:613002
7098	TLR3	HP:0007185	Loss of consciousness	HP:0040282	ORPHA:1930
7098	TLR3	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:1930
7098	TLR3	HP:0001945	Fever	HP:0040282	ORPHA:1930
7098	TLR3	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:1930
7098	TLR3	HP:0004372	Reduced consciousness	HP:0040281	ORPHA:1930
7098	TLR3	HP:0012378	Fatigue	HP:0040282	ORPHA:1930
7098	TLR3	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:1930
7098	TLR3	HP:0002902	Hyponatremia	HP:0040282	ORPHA:1930
7098	TLR3	HP:0012302	Herpes simplex encephalitis	1/1	OMIM:613002
7098	TLR3	HP:0012443	Abnormal brain morphology	HP:0040281	ORPHA:1930
7098	TLR3	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040283	ORPHA:1930
7099	TLR4	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:117
7099	TLR4	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:117
7099	TLR4	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:117
7099	TLR4	HP:0001269	Hemiparesis	HP:0040282	ORPHA:117
7099	TLR4	HP:0001287	Meningitis	HP:0040281	ORPHA:117
7099	TLR4	HP:0001289	Confusion	HP:0040282	ORPHA:117
7099	TLR4	HP:0001288	Gait disturbance	HP:0040282	ORPHA:117
7099	TLR4	HP:0001250	Seizure	HP:0040283	ORPHA:117
7099	TLR4	HP:0001251	Ataxia	HP:0040283	ORPHA:117
7099	TLR4	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:117
7099	TLR4	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:117
7099	TLR4	HP:0000099	Glomerulonephritis	HP:0040284	ORPHA:117
7099	TLR4	HP:0001369	Arthritis	HP:0040281	ORPHA:117
7099	TLR4	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:117
7099	TLR4	HP:0000031	Epididymitis	HP:0040283	ORPHA:117
7099	TLR4	HP:0002638	Superficial thrombophlebitis	HP:0040282	ORPHA:117
7099	TLR4	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:117
7099	TLR4	HP:0002633	Vasculitis	HP:0040281	ORPHA:117
7099	TLR4	HP:0000155	Oral ulcer	HP:0040281	ORPHA:117
7099	TLR4	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:117
7099	TLR4	HP:0012121	Panuveitis	HP:0040282	ORPHA:117
7099	TLR4	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:117
7099	TLR4	HP:0002024	Malabsorption	HP:0040283	ORPHA:117
7099	TLR4	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:117
7099	TLR4	HP:0002027	Abdominal pain	HP:0040282	ORPHA:117
7099	TLR4	HP:0003326	Myalgia	HP:0040281	ORPHA:117
7099	TLR4	HP:0002014	Diarrhea	HP:0040284	ORPHA:117
7099	TLR4	HP:0002076	Migraine	HP:0040281	ORPHA:117
7099	TLR4	HP:0002039	Anorexia	HP:0040283	ORPHA:117
7099	TLR4	HP:0100584	Endocarditis	HP:0040283	ORPHA:117
7099	TLR4	HP:0002102	Pleuritis	HP:0040283	ORPHA:117
7099	TLR4	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:117
7099	TLR4	HP:0002105	Hemoptysis	HP:0040283	ORPHA:117
7099	TLR4	HP:0003401	Paresthesia	HP:0040283	ORPHA:117
7099	TLR4	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:117
7099	TLR4	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:117
7099	TLR4	HP:0002202	Pleural effusion	HP:0040283	ORPHA:117
7099	TLR4	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:117
7099	TLR4	HP:0100796	Orchitis	HP:0040281	ORPHA:117
7099	TLR4	HP:0100758	Gangrene	HP:0040283	ORPHA:117
7099	TLR4	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:117
7099	TLR4	HP:0001061	Acne	HP:0040282	ORPHA:117
7099	TLR4	HP:0002376	Developmental regression	HP:0040283	ORPHA:117
7099	TLR4	HP:0002354	Memory impairment	HP:0040283	ORPHA:117
7099	TLR4	HP:0002321	Vertigo	HP:0040283	ORPHA:117
7099	TLR4	HP:0002315	Headache	HP:0040282	ORPHA:117
7099	TLR4	HP:0100653	Optic neuritis	HP:0040283	ORPHA:117
7099	TLR4	HP:0100654	Retrobulbar optic neuritis	HP:0040283	ORPHA:117
7099	TLR4	HP:0200034	Papule	HP:0040281	ORPHA:117
7099	TLR4	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:117
7099	TLR4	HP:0100614	Myositis	HP:0040283	ORPHA:117
7099	TLR4	HP:0200039	Pustule	HP:0040282	ORPHA:117
7099	TLR4	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:117
7099	TLR4	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:117
7099	TLR4	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:117
7099	TLR4	HP:4000041	AA amyloidosis	HP:0040283	ORPHA:117
7099	TLR4	HP:0000618	Blindness	HP:0040283	ORPHA:117
7099	TLR4	HP:0000613	Photophobia	HP:0040281	ORPHA:117
7099	TLR4	HP:0001945	Fever	HP:0040281	ORPHA:117
7099	TLR4	HP:0001954	Recurrent fever	HP:0040283	ORPHA:117
7099	TLR4	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:117
7099	TLR4	HP:0000737	Irritability	HP:0040283	ORPHA:117
7099	TLR4	HP:0000708	Atypical behavior	HP:0040283	ORPHA:117
7099	TLR4	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:117
7099	TLR4	HP:0100326	Immunologic hypersensitivity	HP:0040282	ORPHA:117
7099	TLR4	HP:0012819	Myocarditis	HP:0040283	ORPHA:117
7099	TLR4	HP:0003249	Genital ulcers	HP:0040282	ORPHA:117
7099	TLR4	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:117
7099	TLR4	HP:0002829	Arthralgia	HP:0040282	ORPHA:117
7099	TLR4	HP:0025532	Positive pathergy test	HP:0040282	ORPHA:117
7099	TLR4	HP:0012219	Erythema nodosum	HP:0040282	ORPHA:117
7099	TLR4	HP:0007813	Nongranulomatous uveitis	HP:0040282	ORPHA:117
7099	TLR4	HP:0012378	Fatigue	HP:0040281	ORPHA:117
7099	TLR4	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:117
7099	TLR4	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:117
7099	TLR4	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:117
7099	TLR4	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:117
7099	TLR4	HP:0001733	Pancreatitis	HP:0040283	ORPHA:117
7099	TLR4	HP:0001701	Pericarditis	HP:0040283	ORPHA:117
7099	TLR4	HP:0000488	Retinopathy	HP:0040283	ORPHA:117
7099	TLR4	HP:0011107	Recurrent aphthous stomatitis	HP:0040281	ORPHA:117
7099	TLR4	HP:0001744	Splenomegaly	HP:0040283	ORPHA:117
7099	TLR4	HP:0000518	Cataract	HP:0040283	ORPHA:117
7099	TLR4	HP:0001824	Weight loss	HP:0040283	ORPHA:117
7099	TLR4	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:117
7102	TSPAN7	HP:0001249	Intellectual disability	6/6	OMIM:300210
7102	TSPAN7	HP:0001419	X-linked recessive inheritance	-	OMIM:300210
7102	TSPAN7	HP:0000639	Nystagmus	1/1	OMIM:300210
7102	TSPAN7	HP:0000689	Dental malocclusion	1/1	OMIM:300210
7102	TSPAN7	HP:0000750	Delayed speech and language development	1/1	OMIM:300210
7102	TSPAN7	HP:0000275	Narrow face	1/1	OMIM:300210
7102	TSPAN7	HP:0000276	Long face	1/1	OMIM:300210
7102	TSPAN7	HP:0000322	Short philtrum	1/1	OMIM:300210
7102	TSPAN7	HP:0001792	Small nail	1/1	OMIM:300210
7102	TSPAN7	HP:0000545	Myopia	1/1	OMIM:300210
7109	TRAPPC10	HP:0002465	Poor speech	1/2	OMIM:620027
7109	TRAPPC10	HP:0010864	Intellectual disability, severe	10/10	OMIM:620027
7109	TRAPPC10	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
7109	TRAPPC10	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
7109	TRAPPC10	HP:0001250	Seizure	4/8	OMIM:620027
7109	TRAPPC10	HP:0001252	Hypotonia	8/8	OMIM:620027
7109	TRAPPC10	HP:0001263	Global developmental delay	8/8	OMIM:620027
7109	TRAPPC10	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
7109	TRAPPC10	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
7109	TRAPPC10	HP:0002515	Waddling gait	3/8	OMIM:620027
7109	TRAPPC10	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
7109	TRAPPC10	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
7109	TRAPPC10	HP:0001344	Absent speech	3/8	OMIM:620027
7109	TRAPPC10	HP:0000007	Autosomal recessive inheritance	-	OMIM:620027
7109	TRAPPC10	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
7109	TRAPPC10	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
7109	TRAPPC10	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
7109	TRAPPC10	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
7109	TRAPPC10	HP:0000664	Synophrys	-	OMIM:620027
7109	TRAPPC10	HP:0004322	Short stature	-	OMIM:620027
7109	TRAPPC10	HP:0004322	Short stature	HP:0040281	ORPHA:2512
7109	TRAPPC10	HP:0031936	Delayed ability to walk	8/8	OMIM:620027
7109	TRAPPC10	HP:0000750	Delayed speech and language development	8/8	OMIM:620027
7109	TRAPPC10	HP:0000718	Aggressive behavior	1/2	OMIM:620027
7109	TRAPPC10	HP:0011463	Childhood onset	8/8	OMIM:620027
7109	TRAPPC10	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
7109	TRAPPC10	HP:0000252	Microcephaly	7/8	OMIM:620027
7109	TRAPPC10	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
7109	TRAPPC10	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
7109	TRAPPC10	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
7109	TRAPPC10	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
7109	TRAPPC10	HP:0000582	Upslanted palpebral fissure	-	OMIM:620027
7109	TRAPPC10	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
7112	TMPO	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
7112	TMPO	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
7112	TMPO	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
7112	TMPO	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
7112	TMPO	HP:0003198	Myopathy	HP:0040283	ORPHA:154
7112	TMPO	HP:0000969	Edema	HP:0040282	ORPHA:154
7112	TMPO	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
7112	TMPO	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
7112	TMPO	HP:0012378	Fatigue	HP:0040282	ORPHA:154
7112	TMPO	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
7112	TMPO	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
7112	TMPO	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
7112	TMPO	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
7123	CLEC3B	HP:0000006	Autosomal dominant inheritance	-	OMIM:619977
7123	CLEC3B	HP:0007663	Reduced visual acuity	4/6	OMIM:619977
7123	CLEC3B	HP:0003596	Middle age onset	1/6	OMIM:619977
7123	CLEC3B	HP:0003584	Late onset	5/6	OMIM:619977
7123	CLEC3B	HP:0000662	Nyctalopia	6/6	OMIM:619977
7123	CLEC3B	HP:0030619	Reduced OCT-measured foveal thickness	5/6	OMIM:619977
7123	CLEC3B	HP:0011506	Choroidal neovascularization	2/6	OMIM:619977
7124	TNF	HP:0000006	Autosomal dominant inheritance	-	OMIM:600807
7124	TNF	HP:0000006	Autosomal dominant inheritance	-	OMIM:157300
7124	TNF	HP:0001426	Non-Mendelian inheritance	-	OMIM:600807
7124	TNF	HP:0002018	Nausea	-	OMIM:157300
7124	TNF	HP:0002013	Vomiting	-	OMIM:157300
7124	TNF	HP:0002083	Migraine without aura	-	OMIM:157300
7124	TNF	HP:0002099	Asthma	-	OMIM:600807
7124	TNF	HP:0002077	Migraine with aura	-	OMIM:157300
7124	TNF	HP:0002183	Phonophobia	-	OMIM:157300
7124	TNF	HP:4000007	Bronchoconstriction	-	OMIM:600807
7124	TNF	HP:0000613	Photophobia	-	OMIM:157300
7124	TNF	HP:0032933	Airway hyperresponsiveness	-	OMIM:600807
7125	TNNC2	HP:0001270	Motor delay	3/4	OMIM:620161
7125	TNNC2	HP:0001252	Hypotonia	2/4	OMIM:620161
7125	TNNC2	HP:0002515	Waddling gait	2/4	OMIM:620161
7125	TNNC2	HP:0032341	Reduced forced vital capacity	3/4	OMIM:620161
7125	TNNC2	HP:0003803	Type 1 muscle fiber predominance	1/2	OMIM:620161
7125	TNNC2	HP:0001382	Joint hypermobility	1/4	OMIM:620161
7125	TNNC2	HP:0001324	Muscle weakness	4/4	OMIM:620161
7125	TNNC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:620161
7125	TNNC2	HP:0003577	Congenital onset	4/4	OMIM:620161
7125	TNNC2	HP:0003557	Increased variability in muscle fiber diameter	1/2	OMIM:620161
7125	TNNC2	HP:0000938	Osteopenia	3/4	OMIM:620161
7125	TNNC2	HP:0001561	Polyhydramnios	2/4	OMIM:620161
7125	TNNC2	HP:0001558	Decreased fetal movement	1/4	OMIM:620161
7125	TNNC2	HP:0012385	Camptodactyly	1/4	OMIM:620161
7125	TNNC2	HP:0001605	Vocal cord paralysis	2/4	OMIM:620161
7125	TNNC2	HP:0005180	Tricuspid regurgitation	1/4	OMIM:620161
7125	TNNC2	HP:0030319	Weakness of facial musculature	4/4	OMIM:620161
7125	TNNC2	HP:0012548	Fatty replacement of skeletal muscle	3/4	OMIM:620161
7128	TNFAIP3	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0001250	Seizure	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0002583	Colitis	2/11	OMIM:616744
7128	TNFAIP3	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
7128	TNFAIP3	HP:0025343	Lupus anticoagulant	3/11	OMIM:616744
7128	TNFAIP3	HP:0001369	Arthritis	HP:0040282	ORPHA:536
7128	TNFAIP3	HP:0033834	Malaise	HP:0040281	ORPHA:536
7128	TNFAIP3	HP:0012085	Pyuria	HP:0040282	ORPHA:536
7128	TNFAIP3	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
7128	TNFAIP3	HP:0025300	Malar rash	HP:0040282	ORPHA:536
7128	TNFAIP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:616744
7128	TNFAIP3	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0000155	Oral ulcer	11/11	OMIM:616744
7128	TNFAIP3	HP:0012122	Anterior uveitis	3/11	OMIM:616744
7128	TNFAIP3	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0002072	Chorea	HP:0040284	ORPHA:536
7128	TNFAIP3	HP:0002072	Chorea	1/11	OMIM:616744
7128	TNFAIP3	HP:0002039	Anorexia	HP:0040281	ORPHA:536
7128	TNFAIP3	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
7128	TNFAIP3	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
7128	TNFAIP3	HP:0003493	Antinuclear antibody positivity	3/11	OMIM:616744
7128	TNFAIP3	HP:0003593	Infantile onset	1/11	OMIM:616744
7128	TNFAIP3	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
7128	TNFAIP3	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0032024	Ileal ulcer	1/11	OMIM:616744
7128	TNFAIP3	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0003621	Juvenile onset	5/11	OMIM:616744
7128	TNFAIP3	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
7128	TNFAIP3	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
7128	TNFAIP3	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0001945	Fever	HP:0040281	ORPHA:536
7128	TNFAIP3	HP:0001954	Recurrent fever	2/11	OMIM:616744
7128	TNFAIP3	HP:0000716	Depression	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0011463	Childhood onset	4/11	OMIM:616744
7128	TNFAIP3	HP:0011462	Young adult onset	1/11	OMIM:616744
7128	TNFAIP3	HP:0000790	Hematuria	HP:0040282	ORPHA:536
7128	TNFAIP3	HP:0005764	Polyarticular arthritis	5/11	OMIM:616744
7128	TNFAIP3	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
7128	TNFAIP3	HP:0000822	Hypertension	HP:0040282	ORPHA:536
7128	TNFAIP3	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
7128	TNFAIP3	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
7128	TNFAIP3	HP:0045073	Serositis	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0003249	Genital ulcers	10/11	OMIM:616744
7128	TNFAIP3	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0000988	Skin rash	4/11	OMIM:616744
7128	TNFAIP3	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0001596	Alopecia	HP:0040282	ORPHA:536
7128	TNFAIP3	HP:0012378	Fatigue	HP:0040281	ORPHA:536
7128	TNFAIP3	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
7128	TNFAIP3	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
7128	TNFAIP3	HP:0001824	Weight loss	HP:0040281	ORPHA:536
7128	TNFAIP3	HP:0001888	Decreased total lymphocyte count	2/11	OMIM:616744
7128	TNFAIP3	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
7128	TNFAIP3	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0001878	Hemolytic anemia	1/11	OMIM:616744
7128	TNFAIP3	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
7128	TNFAIP3	HP:0001873	Thrombocytopenia	1/11	OMIM:616744
7132	TNFRSF1A	HP:0002586	Peritonitis	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:0025289	Cervical lymphadenopathy	41/158	OMIM:142680
7132	TNFRSF1A	HP:0001369	Arthritis	HP:0040282	ORPHA:32960
7132	TNFRSF1A	HP:0001386	Joint swelling	HP:0040281	ORPHA:329967
7132	TNFRSF1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:142680
7132	TNFRSF1A	HP:0002633	Vasculitis	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:0002653	Bone pain	6/158	OMIM:142680
7132	TNFRSF1A	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:32960
7132	TNFRSF1A	HP:0002019	Constipation	HP:0040282	ORPHA:32960
7132	TNFRSF1A	HP:0002027	Abdominal pain	132/183	OMIM:142680
7132	TNFRSF1A	HP:0002027	Abdominal pain	HP:0040281	ORPHA:32960
7132	TNFRSF1A	HP:0002028	Chronic diarrhea	28/158	OMIM:142680
7132	TNFRSF1A	HP:0040313	Oligoarthritis	15/158	OMIM:142680
7132	TNFRSF1A	HP:0003326	Myalgia	131/183	OMIM:142680
7132	TNFRSF1A	HP:0003326	Myalgia	HP:0040281	ORPHA:32960
7132	TNFRSF1A	HP:0002014	Diarrhea	HP:0040281	ORPHA:32960
7132	TNFRSF1A	HP:0002013	Vomiting	HP:0040282	ORPHA:32960
7132	TNFRSF1A	HP:0002013	Vomiting	28/158	OMIM:142680
7132	TNFRSF1A	HP:0100539	Periorbital edema	43/183	OMIM:142680
7132	TNFRSF1A	HP:0100539	Periorbital edema	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:0100537	Fasciitis	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:0002076	Migraine	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:0030953	Conjunctival hyperemia	11/25	OMIM:142680
7132	TNFRSF1A	HP:0002102	Pleuritis	10/25	OMIM:142680
7132	TNFRSF1A	HP:0002102	Pleuritis	HP:0040282	ORPHA:32960
7132	TNFRSF1A	HP:0003401	Paresthesia	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:0002240	Hepatomegaly	9/158	OMIM:142680
7132	TNFRSF1A	HP:0002239	Gastrointestinal hemorrhage	3/158	OMIM:142680
7132	TNFRSF1A	HP:0003552	Muscle stiffness	-	OMIM:142680
7132	TNFRSF1A	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040281	ORPHA:32960
7132	TNFRSF1A	HP:0003565	Elevated erythrocyte sedimentation rate	-	OMIM:142680
7132	TNFRSF1A	HP:0100781	Abnormal sacroiliac joint morphology	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:0100776	Recurrent pharyngitis	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:0100796	Orchitis	HP:0040282	ORPHA:32960
7132	TNFRSF1A	HP:0100749	Chest pain	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:0001055	Erysipelas	7/158	OMIM:142680
7132	TNFRSF1A	HP:0001055	Erysipelas	HP:0040281	ORPHA:32960
7132	TNFRSF1A	HP:0001034	Hypermelanotic macule	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:0002321	Vertigo	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:0002315	Headache	17/25	OMIM:142680
7132	TNFRSF1A	HP:0100658	Cellulitis	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:0100614	Myositis	3/158	OMIM:142680
7132	TNFRSF1A	HP:0100614	Myositis	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:0010783	Erythema	HP:0040282	ORPHA:32960
7132	TNFRSF1A	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:4000041	AA amyloidosis	16/158	OMIM:142680
7132	TNFRSF1A	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:32960
7132	TNFRSF1A	HP:0001954	Recurrent fever	HP:0040281	ORPHA:32960
7132	TNFRSF1A	HP:0001954	Recurrent fever	157/183	OMIM:142680
7132	TNFRSF1A	HP:0012733	Macule	HP:0040281	ORPHA:32960
7132	TNFRSF1A	HP:0000708	Atypical behavior	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:0005764	Polyarticular arthritis	2/158	OMIM:142680
7132	TNFRSF1A	HP:0045086	Knee joint hypermobility	HP:0040283	ORPHA:329967
7132	TNFRSF1A	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:0000988	Skin rash	HP:0040281	ORPHA:32960
7132	TNFRSF1A	HP:0000988	Skin rash	-	OMIM:142680
7132	TNFRSF1A	HP:0000934	Chondrocalcinosis	HP:0040284	ORPHA:329967
7132	TNFRSF1A	HP:0040186	Maculopapular exanthema	41/158	OMIM:142680
7132	TNFRSF1A	HP:0012280	Hepatic amyloidosis	-	OMIM:142680
7132	TNFRSF1A	HP:0002815	Abnormality of the knee	HP:0040282	ORPHA:329967
7132	TNFRSF1A	HP:0002829	Arthralgia	114/183	OMIM:142680
7132	TNFRSF1A	HP:0002829	Arthralgia	HP:0040283	ORPHA:329967
7132	TNFRSF1A	HP:0002829	Arthralgia	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:0005214	Intestinal obstruction	HP:0040282	ORPHA:32960
7132	TNFRSF1A	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:0001701	Pericarditis	HP:0040281	ORPHA:32960
7132	TNFRSF1A	HP:0012450	Chronic constipation	21/158	OMIM:142680
7132	TNFRSF1A	HP:0001744	Splenomegaly	HP:0040282	ORPHA:32960
7132	TNFRSF1A	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:32960
7132	TNFRSF1A	HP:0000509	Conjunctivitis	35/158	OMIM:142680
7132	TNFRSF1A	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040281	ORPHA:32960
7132	TNFRSF1A	HP:0000554	Uveitis	HP:0040283	ORPHA:32960
7133	TNFRSF1B	HP:0025144	Shivering	HP:0040283	ORPHA:3162
7133	TNFRSF1B	HP:0025143	Chills	HP:0040283	ORPHA:3162
7133	TNFRSF1B	HP:0007400	Irregular hyperpigmentation	HP:0040283	ORPHA:3162
7133	TNFRSF1B	HP:0007400	Irregular hyperpigmentation	HP:0040282	ORPHA:2584
7133	TNFRSF1B	HP:0007488	Diffuse skin atrophy	HP:0040283	ORPHA:2584
7133	TNFRSF1B	HP:0002665	Lymphoma	HP:0040281	ORPHA:3162
7133	TNFRSF1B	HP:0002665	Lymphoma	HP:0040281	ORPHA:2584
7133	TNFRSF1B	HP:0001337	Tremor	HP:0040283	ORPHA:3162
7133	TNFRSF1B	HP:0012192	Cutaneous T-cell lymphoma	HP:0040281	ORPHA:3162
7133	TNFRSF1B	HP:0012192	Cutaneous T-cell lymphoma	HP:0040282	ORPHA:2584
7133	TNFRSF1B	HP:0025475	Erythematous macule	HP:0040282	ORPHA:2584
7133	TNFRSF1B	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:2584
7133	TNFRSF1B	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:3162
7133	TNFRSF1B	HP:0002721	Immunodeficiency	HP:0040282	ORPHA:3162
7133	TNFRSF1B	HP:0002045	Hypothermia	HP:0040283	ORPHA:3162
7133	TNFRSF1B	HP:0002103	Abnormal pleura morphology	HP:0040283	ORPHA:3162
7133	TNFRSF1B	HP:0033221	Increased CD4:CD8 ratio	HP:0040282	ORPHA:3162
7133	TNFRSF1B	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:3162
7133	TNFRSF1B	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:2584
7133	TNFRSF1B	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:3162
7133	TNFRSF1B	HP:0010701	Abnormal circulating immunoglobulin concentration	HP:0040283	ORPHA:3162
7133	TNFRSF1B	HP:0100725	Lichenification	HP:0040281	ORPHA:3162
7133	TNFRSF1B	HP:0100758	Gangrene	HP:0040283	ORPHA:3162
7133	TNFRSF1B	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:2584
7133	TNFRSF1B	HP:0001029	Poikiloderma	HP:0040282	ORPHA:2584
7133	TNFRSF1B	HP:0001019	Erythroderma	HP:0040281	ORPHA:3162
7133	TNFRSF1B	HP:0001019	Erythroderma	HP:0040283	ORPHA:2584
7133	TNFRSF1B	HP:0200035	Skin plaque	HP:0040281	ORPHA:2584
7133	TNFRSF1B	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:3162
7133	TNFRSF1B	HP:0200042	Skin ulcer	HP:0040283	ORPHA:2584
7133	TNFRSF1B	HP:0010783	Erythema	HP:0040281	ORPHA:2584
7133	TNFRSF1B	HP:0005561	Abnormal bone marrow cell morphology	HP:0040283	ORPHA:2584
7133	TNFRSF1B	HP:0001945	Fever	HP:0040284	ORPHA:2584
7133	TNFRSF1B	HP:0000656	Ectropion	HP:0040283	ORPHA:3162
7133	TNFRSF1B	HP:0004332	Abnormal lymphocyte morphology	HP:0040281	ORPHA:3162
7133	TNFRSF1B	HP:0004332	Abnormal lymphocyte morphology	HP:0040281	ORPHA:2584
7133	TNFRSF1B	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:3162
7133	TNFRSF1B	HP:0000989	Pruritus	HP:0040281	ORPHA:3162
7133	TNFRSF1B	HP:0000989	Pruritus	HP:0040281	ORPHA:2584
7133	TNFRSF1B	HP:0000988	Skin rash	HP:0040281	ORPHA:2584
7133	TNFRSF1B	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:3162
7133	TNFRSF1B	HP:0000958	Dry skin	HP:0040281	ORPHA:2584
7133	TNFRSF1B	HP:0000958	Dry skin	HP:0040281	ORPHA:3162
7133	TNFRSF1B	HP:0000969	Edema	HP:0040283	ORPHA:3162
7133	TNFRSF1B	HP:0000969	Edema	HP:0040283	ORPHA:2584
7133	TNFRSF1B	HP:0000964	Eczematoid dermatitis	HP:0040281	ORPHA:2584
7133	TNFRSF1B	HP:0000962	Hyperkeratosis	HP:0040283	ORPHA:2584
7133	TNFRSF1B	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:3162
7133	TNFRSF1B	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:2584
7133	TNFRSF1B	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:2584
7133	TNFRSF1B	HP:0001596	Alopecia	HP:0040282	ORPHA:2584
7133	TNFRSF1B	HP:0001596	Alopecia	HP:0040282	ORPHA:3162
7133	TNFRSF1B	HP:0002843	Abnormal T cell morphology	HP:0040281	ORPHA:3162
7133	TNFRSF1B	HP:0030166	Night sweats	HP:0040284	ORPHA:2584
7133	TNFRSF1B	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:2584
7133	TNFRSF1B	HP:0001744	Splenomegaly	HP:0040282	ORPHA:3162
7133	TNFRSF1B	HP:0001744	Splenomegaly	HP:0040283	ORPHA:2584
7133	TNFRSF1B	HP:0001824	Weight loss	HP:0040284	ORPHA:2584
7134	TNNC1	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
7134	TNNC1	HP:0001279	Syncope	1/4	OMIM:613243
7134	TNNC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613243
7134	TNNC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:611879
7134	TNNC1	HP:0002094	Dyspnea	1/4	OMIM:613243
7134	TNNC1	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
7134	TNNC1	HP:0011711	Left anterior fascicular block	1/1	OMIM:613243
7134	TNNC1	HP:0011712	Complete right bundle branch block	1/1	OMIM:613243
7134	TNNC1	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
7134	TNNC1	HP:0003596	Middle age onset	2/5	OMIM:613243
7134	TNNC1	HP:0003596	Middle age onset	2/8	OMIM:611879
7134	TNNC1	HP:0003584	Late onset	1/8	OMIM:611879
7134	TNNC1	HP:0200128	Biventricular hypertrophy	-	OMIM:613243
7134	TNNC1	HP:0100749	Chest pain	-	OMIM:613243
7134	TNNC1	HP:0003621	Juvenile onset	2/4	OMIM:613243
7134	TNNC1	HP:0012664	Reduced left ventricular ejection fraction	0/1	OMIM:613243
7134	TNNC1	HP:0011462	Young adult onset	5/8	OMIM:611879
7134	TNNC1	HP:0011462	Young adult onset	1/4	OMIM:613243
7134	TNNC1	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
7134	TNNC1	HP:0003198	Myopathy	HP:0040283	ORPHA:154
7134	TNNC1	HP:0000969	Edema	HP:0040282	ORPHA:154
7134	TNNC1	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
7134	TNNC1	HP:0012250	ST segment depression	-	OMIM:613243
7134	TNNC1	HP:0005110	Atrial fibrillation	1/5	OMIM:613243
7134	TNNC1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
7134	TNNC1	HP:0002875	Exertional dyspnea	1/1	OMIM:613243
7134	TNNC1	HP:0012378	Fatigue	HP:0040282	ORPHA:154
7134	TNNC1	HP:0005157	Concentric hypertrophic cardiomyopathy	1/1	OMIM:613243
7134	TNNC1	HP:0001681	Angina pectoris	2/4	OMIM:613243
7134	TNNC1	HP:0001645	Sudden cardiac death	1/8	OMIM:611879
7134	TNNC1	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
7134	TNNC1	HP:0001644	Dilated cardiomyopathy	7/8	OMIM:611879
7134	TNNC1	HP:0001663	Ventricular fibrillation	-	OMIM:613243
7134	TNNC1	HP:0001639	Hypertrophic cardiomyopathy	4/4	OMIM:613243
7134	TNNC1	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
7134	TNNC1	HP:0001635	Congestive heart failure	6/7	OMIM:611879
7134	TNNC1	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
7134	TNNC1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
7136	TNNI2	HP:0001181	Adducted thumb	HP:0040281	ORPHA:1147
7136	TNNI2	HP:0001181	Adducted thumb	HP:0040281	ORPHA:1146
7136	TNNI2	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	-	OMIM:601680
7136	TNNI2	HP:0100830	Round ear	HP:0040282	ORPHA:1147
7136	TNNI2	HP:0006109	Absent phalangeal crease	-	OMIM:601680
7136	TNNI2	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1147
7136	TNNI2	HP:0001387	Joint stiffness	HP:0040282	ORPHA:1146
7136	TNNI2	HP:0000006	Autosomal dominant inheritance	-	OMIM:601680
7136	TNNI2	HP:0002650	Scoliosis	-	OMIM:601680
7136	TNNI2	HP:0002650	Scoliosis	HP:0040281	ORPHA:1147
7136	TNNI2	HP:0000160	Narrow mouth	HP:0040283	ORPHA:1146
7136	TNNI2	HP:0000160	Narrow mouth	-	OMIM:601680
7136	TNNI2	HP:0007598	Bilateral single transverse palmar creases	HP:0040281	ORPHA:1147
7136	TNNI2	HP:0009465	Ulnar deviation of finger	HP:0040282	ORPHA:1147
7136	TNNI2	HP:0009465	Ulnar deviation of finger	HP:0040282	ORPHA:1146
7136	TNNI2	HP:0003422	Vertebral segmentation defect	HP:0040282	ORPHA:1147
7136	TNNI2	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:1146
7136	TNNI2	HP:0100490	Camptodactyly of finger	-	OMIM:601680
7136	TNNI2	HP:0010557	Overlapping fingers	HP:0040282	ORPHA:1147
7136	TNNI2	HP:0010557	Overlapping fingers	HP:0040281	ORPHA:1146
7136	TNNI2	HP:0008368	Tarsal synostosis	HP:0040282	ORPHA:1147
7136	TNNI2	HP:0004322	Short stature	HP:0040282	ORPHA:1147
7136	TNNI2	HP:0004322	Short stature	-	OMIM:601680
7136	TNNI2	HP:0003049	Ulnar deviation of the wrist	HP:0040282	ORPHA:1147
7136	TNNI2	HP:0003049	Ulnar deviation of the wrist	-	OMIM:601680
7136	TNNI2	HP:0005684	Distal arthrogryposis	-	OMIM:601680
7136	TNNI2	HP:0003272	Abnormal hip bone morphology	HP:0040282	ORPHA:1147
7136	TNNI2	HP:0003272	Abnormal hip bone morphology	HP:0040283	ORPHA:1146
7136	TNNI2	HP:0000275	Narrow face	HP:0040282	ORPHA:1147
7136	TNNI2	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:601680
7136	TNNI2	HP:0000218	High palate	-	OMIM:601680
7136	TNNI2	HP:0000218	High palate	HP:0040282	ORPHA:1147
7136	TNNI2	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:1147
7136	TNNI2	HP:0000343	Long philtrum	-	OMIM:601680
7136	TNNI2	HP:0000347	Micrognathia	-	OMIM:601680
7136	TNNI2	HP:0000347	Micrognathia	HP:0040282	ORPHA:1147
7136	TNNI2	HP:0000325	Triangular face	-	OMIM:601680
7136	TNNI2	HP:0000303	Mandibular prognathia	-	OMIM:601680
7136	TNNI2	HP:0005272	Prominent nasolabial fold	-	OMIM:601680
7136	TNNI2	HP:0000494	Downslanted palpebral fissures	-	OMIM:601680
7136	TNNI2	HP:0000470	Short neck	HP:0040282	ORPHA:1147
7136	TNNI2	HP:0000465	Webbed neck	-	OMIM:601680
7136	TNNI2	HP:0000465	Webbed neck	HP:0040281	ORPHA:1147
7136	TNNI2	HP:0000411	Protruding ear	HP:0040282	ORPHA:1147
7136	TNNI2	HP:0001762	Talipes equinovarus	-	OMIM:601680
7136	TNNI2	HP:0000431	Wide nasal bridge	-	OMIM:601680
7136	TNNI2	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:1147
7136	TNNI2	HP:0001848	Calcaneovalgus deformity	-	OMIM:601680
7136	TNNI2	HP:0001840	Metatarsus adductus	-	OMIM:601680
7136	TNNI2	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:1146
7136	TNNI2	HP:0001838	Rocker bottom foot	-	OMIM:601680
7136	TNNI2	HP:0000598	Abnormality of the ear	-	OMIM:601680
7136	TNNI2	HP:0001883	Talipes	HP:0040282	ORPHA:1146
7137	TNNI3	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
7137	TNNI3	HP:0001297	Stroke	HP:0040284	ORPHA:75249
7137	TNNI3	HP:0001279	Syncope	HP:0040284	ORPHA:75249
7137	TNNI3	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:75249
7137	TNNI3	HP:0000007	Autosomal recessive inheritance	-	OMIM:611880
7137	TNNI3	HP:0000006	Autosomal dominant inheritance	-	OMIM:613286
7137	TNNI3	HP:0000006	Autosomal dominant inheritance	-	OMIM:115210
7137	TNNI3	HP:0000006	Autosomal dominant inheritance	-	OMIM:613690
7137	TNNI3	HP:0033755	Increased left ventricular end-diastolic volume	5/5	OMIM:613286
7137	TNNI3	HP:0033755	Increased left ventricular end-diastolic volume	1/2	OMIM:611880
7137	TNNI3	HP:0033764	Death in middle age	1/5	OMIM:613286
7137	TNNI3	HP:0031295	Left atrial enlargement	3/9	OMIM:115210
7137	TNNI3	HP:0031295	Left atrial enlargement	HP:0040282	ORPHA:75249
7137	TNNI3	HP:0002094	Dyspnea	HP:0040283	ORPHA:75249
7137	TNNI3	HP:0030950	Pulmonary venous hypertension	HP:0040282	ORPHA:75249
7137	TNNI3	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
7137	TNNI3	HP:0100598	Pulmonary edema	HP:0040283	ORPHA:75249
7137	TNNI3	HP:0002119	Ventriculomegaly	-	OMIM:115210
7137	TNNI3	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
7137	TNNI3	HP:0003596	Middle age onset	1/5	OMIM:613286
7137	TNNI3	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:75249
7137	TNNI3	HP:0003581	Adult onset	6/6	OMIM:613690
7137	TNNI3	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:75249
7137	TNNI3	HP:0003621	Juvenile onset	3/5	OMIM:613286
7137	TNNI3	HP:0001907	Thromboembolism	HP:0040284	ORPHA:75249
7137	TNNI3	HP:0012666	Severely reduced left ventricular ejection fraction	4/5	OMIM:613286
7137	TNNI3	HP:0031992	Apical hypertrophic cardiomyopathy	3/6	OMIM:613690
7137	TNNI3	HP:0011462	Young adult onset	2/2	OMIM:611880
7137	TNNI3	HP:0011462	Young adult onset	1/5	OMIM:613286
7137	TNNI3	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
7137	TNNI3	HP:0012764	Orthopnea	HP:0040283	ORPHA:75249
7137	TNNI3	HP:0003198	Myopathy	HP:0040283	ORPHA:154
7137	TNNI3	HP:0030718	Right atrial enlargement	HP:0040282	ORPHA:75249
7137	TNNI3	HP:0000969	Edema	HP:0040282	ORPHA:154
7137	TNNI3	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
7137	TNNI3	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:75249
7137	TNNI3	HP:0005110	Atrial fibrillation	HP:0040283	OMIM:613690
7137	TNNI3	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:75249
7137	TNNI3	HP:0031318	Myofiber disarray	0/1	OMIM:611880
7137	TNNI3	HP:0031319	Cardiomyocyte hypertrophy	1/1	OMIM:611880
7137	TNNI3	HP:0031329	Interstitial cardiac fibrosis	HP:0040282	ORPHA:75249
7137	TNNI3	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
7137	TNNI3	HP:0012398	Peripheral edema	HP:0040283	ORPHA:75249
7137	TNNI3	HP:0012378	Fatigue	HP:0040282	ORPHA:154
7137	TNNI3	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:75249
7137	TNNI3	HP:0005162	Abnormal left ventricular function	HP:0040281	ORPHA:75249
7137	TNNI3	HP:0001645	Sudden cardiac death	-	OMIM:115210
7137	TNNI3	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
7137	TNNI3	HP:0001644	Dilated cardiomyopathy	2/2	OMIM:611880
7137	TNNI3	HP:0001644	Dilated cardiomyopathy	2/2	OMIM:613286
7137	TNNI3	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:75249
7137	TNNI3	HP:0001639	Hypertrophic cardiomyopathy	2/2	OMIM:613690
7137	TNNI3	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:75249
7137	TNNI3	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
7137	TNNI3	HP:0001635	Congestive heart failure	2/2	OMIM:611880
7137	TNNI3	HP:0001635	Congestive heart failure	4/4	OMIM:613286
7137	TNNI3	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
7137	TNNI3	HP:0001723	Restrictive cardiomyopathy	-	OMIM:115210
7137	TNNI3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
7137	TNNI3	HP:0001716	Wolff-Parkinson-White syndrome	3/6	OMIM:613690
7137	TNNI3	HP:0001712	Left ventricular hypertrophy	6/9	OMIM:115210
7137	TNNI3	HP:0001714	Ventricular hypertrophy	-	OMIM:613690
7138	TNNT1	HP:0003789	Minicore myopathy	4/4	OMIM:620386
7138	TNNT1	HP:0002474	Expressive language delay	1/2	OMIM:620389
7138	TNNT1	HP:0003798	Nemaline bodies	8/10	OMIM:620389
7138	TNNT1	HP:0003798	Nemaline bodies	2/4	OMIM:620386
7138	TNNT1	HP:0003798	Nemaline bodies	4/4	OMIM:605355
7138	TNNT1	HP:0020203	Z-band streaming	4/4	OMIM:605355
7138	TNNT1	HP:0002421	Poor head control	1/2	OMIM:620389
7138	TNNT1	HP:0003749	Pelvic girdle muscle weakness	1/9	OMIM:620389
7138	TNNT1	HP:0003731	Quadriceps muscle weakness	1/9	OMIM:620389
7138	TNNT1	HP:0003722	Neck flexor weakness	1/4	OMIM:620386
7138	TNNT1	HP:0003701	Proximal muscle weakness	5/11	OMIM:620389
7138	TNNT1	HP:0003701	Proximal muscle weakness	3/4	OMIM:620386
7138	TNNT1	HP:0001270	Motor delay	1/2	OMIM:620389
7138	TNNT1	HP:0001270	Motor delay	HP:0040282	ORPHA:98902
7138	TNNT1	HP:0001288	Gait disturbance	2/9	OMIM:620389
7138	TNNT1	HP:0001284	Areflexia	1/2	OMIM:620389
7138	TNNT1	HP:0001252	Hypotonia	1/2	OMIM:620389
7138	TNNT1	HP:0001249	Intellectual disability	-	ORPHA:98902
7138	TNNT1	HP:0001249	Intellectual disability	0/6	OMIM:605355
7138	TNNT1	HP:0001239	Wrist flexion contracture	2/4	OMIM:620386
7138	TNNT1	HP:0007340	Lower limb muscle weakness	1/9	OMIM:620389
7138	TNNT1	HP:0002515	Waddling gait	3/9	OMIM:620389
7138	TNNT1	HP:0032341	Reduced forced vital capacity	3/4	OMIM:620386
7138	TNNT1	HP:0003803	Type 1 muscle fiber predominance	5/10	OMIM:620389
7138	TNNT1	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:98902
7138	TNNT1	HP:0003803	Type 1 muscle fiber predominance	4/4	OMIM:605355
7138	TNNT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620386
7138	TNNT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:605355
7138	TNNT1	HP:0001337	Tremor	6/6	OMIM:605355
7138	TNNT1	HP:0001337	Tremor	HP:0040282	ORPHA:98902
7138	TNNT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620389
7138	TNNT1	HP:0002650	Scoliosis	4/11	OMIM:620389
7138	TNNT1	HP:0002650	Scoliosis	1/4	OMIM:620386
7138	TNNT1	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:98902
7138	TNNT1	HP:0008947	Floppy infant	1/2	OMIM:620389
7138	TNNT1	HP:0002751	Kyphoscoliosis	2/4	OMIM:620386
7138	TNNT1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:98902
7138	TNNT1	HP:0003325	Limb-girdle muscle weakness	3/4	OMIM:620386
7138	TNNT1	HP:0002015	Dysphagia	3/9	OMIM:620389
7138	TNNT1	HP:0003307	Hyperlordosis	2/11	OMIM:620389
7138	TNNT1	HP:0003306	Spinal rigidity	4/4	OMIM:620386
7138	TNNT1	HP:0003323	Progressive muscle weakness	HP:0040282	ORPHA:98902
7138	TNNT1	HP:0003323	Progressive muscle weakness	6/6	OMIM:605355
7138	TNNT1	HP:0002093	Respiratory insufficiency	1/2	OMIM:620389
7138	TNNT1	HP:0002093	Respiratory insufficiency	-	OMIM:605355
7138	TNNT1	HP:0003391	Gowers sign	3/9	OMIM:620389
7138	TNNT1	HP:0003391	Gowers sign	2/4	OMIM:620386
7138	TNNT1	HP:0002058	Myopathic facies	3/9	OMIM:620389
7138	TNNT1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98902
7138	TNNT1	HP:0002194	Delayed gross motor development	3/4	OMIM:620386
7138	TNNT1	HP:0002194	Delayed gross motor development	6/6	OMIM:605355
7138	TNNT1	HP:0003593	Infantile onset	3/10	OMIM:620389
7138	TNNT1	HP:0003593	Infantile onset	3/4	OMIM:620386
7138	TNNT1	HP:0003577	Congenital onset	1/4	OMIM:620386
7138	TNNT1	HP:0003551	Difficulty climbing stairs	4/9	OMIM:620389
7138	TNNT1	HP:0003551	Difficulty climbing stairs	4/4	OMIM:620386
7138	TNNT1	HP:0003547	Shoulder girdle muscle weakness	1/9	OMIM:620389
7138	TNNT1	HP:0003557	Increased variability in muscle fiber diameter	3/4	OMIM:620386
7138	TNNT1	HP:0034677	Ankle contracture	3/4	OMIM:620386
7138	TNNT1	HP:0011968	Feeding difficulties	1/2	OMIM:620389
7138	TNNT1	HP:0003691	Scapular winging	1/9	OMIM:620389
7138	TNNT1	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:98902
7138	TNNT1	HP:0007126	Proximal amyotrophy	6/6	OMIM:605355
7138	TNNT1	HP:0003623	Neonatal onset	6/6	OMIM:605355
7138	TNNT1	HP:0003621	Juvenile onset	6/8	OMIM:620389
7138	TNNT1	HP:0009046	Difficulty running	2/11	OMIM:620389
7138	TNNT1	HP:0009027	Foot dorsiflexor weakness	2/9	OMIM:620389
7138	TNNT1	HP:0003044	Shoulder flexion contracture	HP:0040282	ORPHA:98902
7138	TNNT1	HP:0003044	Shoulder flexion contracture	-	OMIM:605355
7138	TNNT1	HP:0000768	Pectus carinatum	3/9	OMIM:620389
7138	TNNT1	HP:0000768	Pectus carinatum	-	OMIM:605355
7138	TNNT1	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:98902
7138	TNNT1	HP:0011462	Young adult onset	1/8	OMIM:620389
7138	TNNT1	HP:0003198	Myopathy	6/6	OMIM:605355
7138	TNNT1	HP:0003184	Decreased hip abduction	6/6	OMIM:605355
7138	TNNT1	HP:0003236	Elevated circulating creatine kinase concentration	4/4	OMIM:620386
7138	TNNT1	HP:0003202	Skeletal muscle atrophy	1/2	OMIM:620389
7138	TNNT1	HP:0003201	Rhabdomyolysis	4/4	OMIM:620386
7138	TNNT1	HP:0034391	Elbow contracture	4/4	OMIM:620386
7138	TNNT1	HP:0003273	Hip contracture	4/4	OMIM:620386
7138	TNNT1	HP:0003273	Hip contracture	HP:0040282	ORPHA:98902
7138	TNNT1	HP:0003273	Hip contracture	6/6	OMIM:605355
7138	TNNT1	HP:0000276	Long face	2/11	OMIM:620389
7138	TNNT1	HP:0031317	Fatty replacement of ventricular myocardial tissue	3/4	OMIM:620386
7138	TNNT1	HP:0000218	High palate	6/11	OMIM:620389
7138	TNNT1	HP:0002870	Obstructive sleep apnea	1/9	OMIM:620389
7138	TNNT1	HP:0001533	Slender build	1/2	OMIM:620389
7138	TNNT1	HP:0030051	Tip-toe gait	1/9	OMIM:620389
7138	TNNT1	HP:0030319	Weakness of facial musculature	1/9	OMIM:620389
7138	TNNT1	HP:0001771	Achilles tendon contracture	1/9	OMIM:620389
7138	TNNT1	HP:0001761	Pes cavus	1/9	OMIM:620389
7139	TNNT2	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
7139	TNNT2	HP:0033568	Left axis deviation	1/1	OMIM:612422
7139	TNNT2	HP:0033534	Increased circulating brain natriuretic peptide concentration	2/2	OMIM:601494
7139	TNNT2	HP:0001297	Stroke	HP:0040284	ORPHA:75249
7139	TNNT2	HP:0001279	Syncope	HP:0040284	ORPHA:75249
7139	TNNT2	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:75249
7139	TNNT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:601494
7139	TNNT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115195
7139	TNNT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
7139	TNNT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:612422
7139	TNNT2	HP:0033755	Increased left ventricular end-diastolic volume	7/7	OMIM:601494
7139	TNNT2	HP:0002615	Hypotension	1/1	OMIM:612422
7139	TNNT2	HP:0031295	Left atrial enlargement	HP:0040282	ORPHA:75249
7139	TNNT2	HP:0002094	Dyspnea	2/7	OMIM:115195
7139	TNNT2	HP:0002094	Dyspnea	HP:0040283	ORPHA:75249
7139	TNNT2	HP:0030950	Pulmonary venous hypertension	HP:0040282	ORPHA:75249
7139	TNNT2	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
7139	TNNT2	HP:0011712	Complete right bundle branch block	1/6	OMIM:115195
7139	TNNT2	HP:0100598	Pulmonary edema	HP:0040283	ORPHA:75249
7139	TNNT2	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
7139	TNNT2	HP:0003596	Middle age onset	2/4	OMIM:115195
7139	TNNT2	HP:0003596	Middle age onset	4/12	OMIM:601494
7139	TNNT2	HP:0003593	Infantile onset	3/12	OMIM:601494
7139	TNNT2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:75249
7139	TNNT2	HP:6000313	Incomplete right bundle branch block	2/20	OMIM:601494
7139	TNNT2	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:75249
7139	TNNT2	HP:0003621	Juvenile onset	1/8	OMIM:601494
7139	TNNT2	HP:0004942	Aortic aneurysm	1/1	OMIM:612422
7139	TNNT2	HP:0001907	Thromboembolism	HP:0040284	ORPHA:75249
7139	TNNT2	HP:0012664	Reduced left ventricular ejection fraction	0/6	OMIM:115195
7139	TNNT2	HP:0012664	Reduced left ventricular ejection fraction	16/23	OMIM:601494
7139	TNNT2	HP:0012664	Reduced left ventricular ejection fraction	1/1	OMIM:612422
7139	TNNT2	HP:0030682	Left ventricular noncompaction	4/4	OMIM:601494
7139	TNNT2	HP:0011463	Childhood onset	1/1	OMIM:612422
7139	TNNT2	HP:0011462	Young adult onset	3/12	OMIM:601494
7139	TNNT2	HP:0011462	Young adult onset	2/4	OMIM:115195
7139	TNNT2	HP:0011461	Fetal onset	1/4	OMIM:601494
7139	TNNT2	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
7139	TNNT2	HP:0012764	Orthopnea	HP:0040283	ORPHA:75249
7139	TNNT2	HP:0003198	Myopathy	HP:0040283	ORPHA:154
7139	TNNT2	HP:0030718	Right atrial enlargement	1/1	OMIM:612422
7139	TNNT2	HP:0030718	Right atrial enlargement	HP:0040282	ORPHA:75249
7139	TNNT2	HP:0000969	Edema	HP:0040282	ORPHA:154
7139	TNNT2	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
7139	TNNT2	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
7139	TNNT2	HP:0012249	Abnormal ST segment	1/1	OMIM:612422
7139	TNNT2	HP:0005144	Ventricular septal hypertrophy	4/6	OMIM:115195
7139	TNNT2	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:75249
7139	TNNT2	HP:0005110	Atrial fibrillation	1/6	OMIM:115195
7139	TNNT2	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:75249
7139	TNNT2	HP:0005110	Atrial fibrillation	0/4	OMIM:601494
7139	TNNT2	HP:0031329	Interstitial cardiac fibrosis	HP:0040282	ORPHA:75249
7139	TNNT2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
7139	TNNT2	HP:0031333	Myocardial sarcomeric disarray	1/1	OMIM:612422
7139	TNNT2	HP:0012398	Peripheral edema	HP:0040283	ORPHA:75249
7139	TNNT2	HP:0012378	Fatigue	HP:0040282	ORPHA:154
7139	TNNT2	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:75249
7139	TNNT2	HP:0005162	Abnormal left ventricular function	HP:0040281	ORPHA:75249
7139	TNNT2	HP:0001688	Sinus bradycardia	2/20	OMIM:601494
7139	TNNT2	HP:0001664	Torsade de pointes	1/46	OMIM:115000
7139	TNNT2	HP:0001681	Angina pectoris	3/7	OMIM:115195
7139	TNNT2	HP:0001645	Sudden cardiac death	-	OMIM:115000
7139	TNNT2	HP:0001645	Sudden cardiac death	5/13	OMIM:601494
7139	TNNT2	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
7139	TNNT2	HP:0001644	Dilated cardiomyopathy	24/30	OMIM:601494
7139	TNNT2	HP:0001663	Ventricular fibrillation	-	OMIM:115000
7139	TNNT2	HP:0001657	Prolonged QT interval	3/20	OMIM:601494
7139	TNNT2	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:75249
7139	TNNT2	HP:0001639	Hypertrophic cardiomyopathy	4/4	OMIM:115195
7139	TNNT2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:75249
7139	TNNT2	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
7139	TNNT2	HP:0001635	Congestive heart failure	19/32	OMIM:601494
7139	TNNT2	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
7139	TNNT2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
7139	TNNT2	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
7139	TNNT2	HP:0001723	Restrictive cardiomyopathy	1/1	OMIM:612422
7139	TNNT2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
7139	TNNT2	HP:0001712	Left ventricular hypertrophy	HP:0040283	OMIM:601494
7140	TNNT3	HP:0001182	Tapered finger	-	OMIM:618435
7140	TNNT3	HP:0001181	Adducted thumb	-	OMIM:618435
7140	TNNT3	HP:0001181	Adducted thumb	HP:0040281	ORPHA:1147
7140	TNNT3	HP:0001181	Adducted thumb	HP:0040281	ORPHA:1146
7140	TNNT3	HP:0001156	Brachydactyly	-	OMIM:618435
7140	TNNT3	HP:0100830	Round ear	HP:0040282	ORPHA:1147
7140	TNNT3	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1147
7140	TNNT3	HP:0001387	Joint stiffness	HP:0040282	ORPHA:1146
7140	TNNT3	HP:0000006	Autosomal dominant inheritance	-	OMIM:618435
7140	TNNT3	HP:0002650	Scoliosis	HP:0040281	ORPHA:1147
7140	TNNT3	HP:0000160	Narrow mouth	HP:0040284	OMIM:618435
7140	TNNT3	HP:0000160	Narrow mouth	HP:0040283	ORPHA:1146
7140	TNNT3	HP:0007598	Bilateral single transverse palmar creases	HP:0040281	ORPHA:1147
7140	TNNT3	HP:0009465	Ulnar deviation of finger	HP:0040282	ORPHA:1147
7140	TNNT3	HP:0009465	Ulnar deviation of finger	HP:0040282	ORPHA:1146
7140	TNNT3	HP:0003422	Vertebral segmentation defect	HP:0040282	ORPHA:1147
7140	TNNT3	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:1146
7140	TNNT3	HP:0010557	Overlapping fingers	HP:0040282	ORPHA:1147
7140	TNNT3	HP:0010557	Overlapping fingers	HP:0040281	ORPHA:1146
7140	TNNT3	HP:0010557	Overlapping fingers	-	OMIM:618435
7140	TNNT3	HP:0003577	Congenital onset	1/1	OMIM:618435
7140	TNNT3	HP:0008368	Tarsal synostosis	HP:0040282	ORPHA:1147
7140	TNNT3	HP:0010055	Broad hallux	-	OMIM:618435
7140	TNNT3	HP:0004322	Short stature	HP:0040282	ORPHA:1147
7140	TNNT3	HP:0003049	Ulnar deviation of the wrist	HP:0040282	ORPHA:1147
7140	TNNT3	HP:0003049	Ulnar deviation of the wrist	-	OMIM:618435
7140	TNNT3	HP:0003272	Abnormal hip bone morphology	HP:0040282	ORPHA:1147
7140	TNNT3	HP:0003272	Abnormal hip bone morphology	HP:0040283	ORPHA:1146
7140	TNNT3	HP:0000275	Narrow face	HP:0040282	ORPHA:1147
7140	TNNT3	HP:0002827	Hip dislocation	-	OMIM:618435
7140	TNNT3	HP:0030084	Clinodactyly	-	OMIM:618435
7140	TNNT3	HP:0000218	High palate	HP:0040282	ORPHA:1147
7140	TNNT3	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:1147
7140	TNNT3	HP:0012385	Camptodactyly	-	OMIM:618435
7140	TNNT3	HP:0000347	Micrognathia	HP:0040282	ORPHA:1147
7140	TNNT3	HP:0000325	Triangular face	HP:0040284	OMIM:618435
7140	TNNT3	HP:0000470	Short neck	HP:0040282	ORPHA:1147
7140	TNNT3	HP:0000465	Webbed neck	HP:0040281	ORPHA:1147
7140	TNNT3	HP:0001772	Talipes equinovalgus	-	OMIM:618435
7140	TNNT3	HP:0000411	Protruding ear	HP:0040282	ORPHA:1147
7140	TNNT3	HP:0001762	Talipes equinovarus	1/1	OMIM:618435
7140	TNNT3	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:1147
7140	TNNT3	HP:0001840	Metatarsus adductus	-	OMIM:618435
7140	TNNT3	HP:0001852	Sandal gap	-	OMIM:618435
7140	TNNT3	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:1146
7140	TNNT3	HP:0001831	Short toe	-	OMIM:618435
7140	TNNT3	HP:0001883	Talipes	HP:0040282	ORPHA:1146
7143	TNR	HP:0007325	Generalized dystonia	1/1	OMIM:619653
7143	TNR	HP:0007305	CNS demyelination	1/1	OMIM:619653
7143	TNR	HP:0001270	Motor delay	13/13	OMIM:619653
7143	TNR	HP:0001285	Spastic tetraparesis	1/1	OMIM:619653
7143	TNR	HP:0001266	Choreoathetosis	11/11	OMIM:619653
7143	TNR	HP:0001260	Dysarthria	1/1	OMIM:619653
7143	TNR	HP:0001263	Global developmental delay	7/11	OMIM:619653
7143	TNR	HP:0001257	Spasticity	11/13	OMIM:619653
7143	TNR	HP:0007350	Upper limb hyperreflexia	7/12	OMIM:619653
7143	TNR	HP:0002540	Inability to walk	1/1	OMIM:619653
7143	TNR	HP:0001347	Hyperreflexia	1/1	OMIM:619653
7143	TNR	HP:0001332	Dystonia	7/13	OMIM:619653
7143	TNR	HP:0033725	Thin corpus callosum	1/11	OMIM:619653
7143	TNR	HP:0001338	Partial agenesis of the corpus callosum	1/11	OMIM:619653
7143	TNR	HP:0000007	Autosomal recessive inheritance	-	OMIM:619653
7143	TNR	HP:0001300	Parkinsonism	-	OMIM:619653
7143	TNR	HP:0008959	Distal upper limb muscle weakness	1/1	OMIM:619653
7143	TNR	HP:0008936	Axial hypotonia	8/12	OMIM:619653
7143	TNR	HP:0002188	Delayed CNS myelination	4/11	OMIM:619653
7143	TNR	HP:0002186	Apraxia	7/13	OMIM:619653
7143	TNR	HP:0002179	Opisthotonus	6/12	OMIM:619653
7143	TNR	HP:0003593	Infantile onset	-	OMIM:619653
7143	TNR	HP:0002395	Lower limb hyperreflexia	10/12	OMIM:619653
7143	TNR	HP:0007149	Distal upper limb amyotrophy	1/1	OMIM:619653
7143	TNR	HP:0000750	Delayed speech and language development	12/13	OMIM:619653
7143	TNR	HP:0000514	Slow saccadic eye movements	1/1	OMIM:619653
7145	TNS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
7145	TNS1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
7145	TNS1	HP:0004467	Preauricular pit	-	OMIM:187500
7145	TNS1	HP:0000337	Broad forehead	-	OMIM:187500
7145	TNS1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
7145	TNS1	HP:0000520	Proptosis	-	OMIM:187500
7148	TNXB	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:230839
7148	TNXB	HP:0003701	Proximal muscle weakness	HP:0040283	OMIM:606408
7148	TNXB	HP:0001297	Stroke	HP:0040283	ORPHA:230839
7148	TNXB	HP:0001252	Hypotonia	HP:0040282	ORPHA:230839
7148	TNXB	HP:0000081	Duplicated collecting system	5/9	OMIM:615963
7148	TNXB	HP:0000061	Ambiguous genitalia, female	-	OMIM:606408
7148	TNXB	HP:0000076	Vesicoureteral reflux	5/9	OMIM:615963
7148	TNXB	HP:0000076	Vesicoureteral reflux	-	OMIM:606408
7148	TNXB	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:230839
7148	TNXB	HP:0001382	Joint hypermobility	2/2	OMIM:615963
7148	TNXB	HP:0001382	Joint hypermobility	8/8	OMIM:606408
7148	TNXB	HP:0001324	Muscle weakness	HP:0040282	ORPHA:230839
7148	TNXB	HP:0000010	Recurrent urinary tract infections	8/8	OMIM:615963
7148	TNXB	HP:0000007	Autosomal recessive inheritance	-	OMIM:606408
7148	TNXB	HP:0000006	Autosomal dominant inheritance	-	OMIM:615963
7148	TNXB	HP:0000122	Unilateral renal agenesis	-	OMIM:606408
7148	TNXB	HP:0002036	Hiatus hernia	-	OMIM:606408
7148	TNXB	HP:0003326	Myalgia	HP:0040282	ORPHA:230839
7148	TNXB	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:230839
7148	TNXB	HP:0003555	Muscle fiber splitting	HP:0040283	OMIM:606408
7148	TNXB	HP:0001058	Poor wound healing	0/8	OMIM:606408
7148	TNXB	HP:0001065	Striae distensae	1/8	OMIM:606408
7148	TNXB	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:230839
7148	TNXB	HP:0001075	Atrophic scars	0/8	OMIM:606408
7148	TNXB	HP:0032153	Joint subluxation	12/18	OMIM:606408
7148	TNXB	HP:0007126	Proximal amyotrophy	HP:0040283	OMIM:606408
7148	TNXB	HP:0009025	Increased connective tissue	HP:0040283	OMIM:606408
7148	TNXB	HP:0000763	Sensory neuropathy	HP:0040282	ORPHA:230839
7148	TNXB	HP:0004416	Precocious atherosclerosis	HP:0040283	ORPHA:230839
7148	TNXB	HP:0000835	Adrenal hypoplasia	HP:0040283	ORPHA:230839
7148	TNXB	HP:0000813	Bicornuate uterus	-	OMIM:606408
7148	TNXB	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:230839
7148	TNXB	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:230839
7148	TNXB	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:230839
7148	TNXB	HP:0000978	Bruising susceptibility	8/8	OMIM:606408
7148	TNXB	HP:0000977	Soft skin	7/8	OMIM:606408
7148	TNXB	HP:0000974	Hyperextensible skin	HP:0040282	ORPHA:230839
7148	TNXB	HP:0000974	Hyperextensible skin	8/8	OMIM:606408
7148	TNXB	HP:0000963	Thin skin	HP:0040282	ORPHA:230839
7148	TNXB	HP:0011675	Arrhythmia	HP:0040283	ORPHA:230839
7148	TNXB	HP:0002829	Arthralgia	HP:0040282	ORPHA:230839
7148	TNXB	HP:0002829	Arthralgia	-	OMIM:606408
7148	TNXB	HP:0012378	Fatigue	HP:0040282	ORPHA:230839
7148	TNXB	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:230839
7148	TNXB	HP:0001634	Mitral valve prolapse	-	OMIM:606408
7148	TNXB	HP:0031655	Quadricuspid aortic valve	-	OMIM:606408
7156	TOP3A	HP:0003758	Reduced subcutaneous adipose tissue	3/10	OMIM:618097
7156	TOP3A	HP:0003722	Neck flexor weakness	1/1	OMIM:618098
7156	TOP3A	HP:0003701	Proximal muscle weakness	1/1	OMIM:618098
7156	TOP3A	HP:0001272	Cerebellar atrophy	1/1	OMIM:618098
7156	TOP3A	HP:0001251	Ataxia	1/1	OMIM:618098
7156	TOP3A	HP:0001260	Dysarthria	1/1	OMIM:618098
7156	TOP3A	HP:0010998	Increased susceptibility to spontaneous sister chromatid exchange	7/7	OMIM:618097
7156	TOP3A	HP:0025300	Malar rash	0/10	OMIM:618097
7156	TOP3A	HP:0000007	Autosomal recessive inheritance	-	OMIM:618097
7156	TOP3A	HP:0000007	Autosomal recessive inheritance	-	OMIM:618098
7156	TOP3A	HP:0001310	Dysmetria	1/1	OMIM:618098
7156	TOP3A	HP:0002719	Recurrent infections	3/6	OMIM:618097
7156	TOP3A	HP:0002020	Gastroesophageal reflux	2/5	OMIM:618097
7156	TOP3A	HP:0002015	Dysphagia	1/1	OMIM:618098
7156	TOP3A	HP:0002136	Broad-based gait	1/1	OMIM:618098
7156	TOP3A	HP:0003584	Late onset	1/1	OMIM:618098
7156	TOP3A	HP:0003546	Exercise intolerance	1/1	OMIM:618098
7156	TOP3A	HP:0000651	Diplopia	1/1	OMIM:618098
7156	TOP3A	HP:0011342	Mild global developmental delay	4/10	OMIM:618097
7156	TOP3A	HP:0012663	Mildly reduced left ventricular ejection fraction	1/1	OMIM:618098
7156	TOP3A	HP:0004325	Decreased body weight	10/10	OMIM:618097
7156	TOP3A	HP:0004322	Short stature	10/10	OMIM:618097
7156	TOP3A	HP:0030674	Antenatal onset	10/10	OMIM:618097
7156	TOP3A	HP:0000763	Sensory neuropathy	1/1	OMIM:618098
7156	TOP3A	HP:0011469	Nasal regurgitation	1/1	OMIM:618098
7156	TOP3A	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1/1	OMIM:618097
7156	TOP3A	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:618098
7156	TOP3A	HP:0000957	Cafe-au-lait spot	8/10	OMIM:618097
7156	TOP3A	HP:0011675	Arrhythmia	1/1	OMIM:618098
7156	TOP3A	HP:0000252	Microcephaly	10/10	OMIM:618097
7156	TOP3A	HP:0001511	Intrauterine growth retardation	10/10	OMIM:618097
7156	TOP3A	HP:0001644	Dilated cardiomyopathy	4/9	OMIM:618097
7156	TOP3A	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:618098
7156	TOP3A	HP:0000508	Ptosis	1/1	OMIM:618098
7156	TOP3A	HP:0000590	Progressive external ophthalmoplegia	1/1	OMIM:618098
7157	TP53	HP:0025134	Increased serum estradiol	HP:0040282	ORPHA:1501
7157	TP53	HP:0002488	Acute leukemia	-	OMIM:151623
7157	TP53	HP:0002488	Acute leukemia	HP:0040283	ORPHA:3318
7157	TP53	HP:0001123	Visual field defect	HP:0040284	ORPHA:96253
7157	TP53	HP:0009919	Retinoblastoma	-	OMIM:259500
7157	TP53	HP:0010885	Avascular necrosis	HP:0040284	ORPHA:96253
7157	TP53	HP:0033505	Livedo reticularis	HP:0040283	ORPHA:96253
7157	TP53	HP:0001297	Stroke	HP:0040283	ORPHA:96253
7157	TP53	HP:0025269	Panic attack	HP:0040284	ORPHA:96253
7157	TP53	HP:0025269	Panic attack	HP:0040282	ORPHA:1501
7157	TP53	HP:0001276	Hypertonia	HP:0040283	ORPHA:2807
7157	TP53	HP:0001250	Seizure	-	OMIM:260500
7157	TP53	HP:0001250	Seizure	HP:0040283	ORPHA:2807
7157	TP53	HP:0001249	Intellectual disability	2/2	OMIM:618165
7157	TP53	HP:0001263	Global developmental delay	2/2	OMIM:618165
7157	TP53	HP:0007378	Neoplasm of the gastrointestinal tract	HP:0040283	ORPHA:524
7157	TP53	HP:0010982	Polygenic inheritance	-	OMIM:607107
7157	TP53	HP:0025383	Dorsocervical fat pad	HP:0040282	ORPHA:96253
7157	TP53	HP:0000080	Abnormality of reproductive system physiology	HP:0040282	ORPHA:1501
7157	TP53	HP:0025380	Increased circulating androstenedione concentration	HP:0040282	ORPHA:1501
7157	TP53	HP:0012030	Increased urinary cortisol level	HP:0040281	ORPHA:96253
7157	TP53	HP:0012030	Increased urinary cortisol level	HP:0040282	ORPHA:1501
7157	TP53	HP:0001386	Joint swelling	HP:0040282	ORPHA:668
7157	TP53	HP:0025318	Ovarian carcinoma	HP:0040283	ORPHA:1333
7157	TP53	HP:0002690	Large sella turcica	HP:0040283	ORPHA:96253
7157	TP53	HP:0000029	Testicular atrophy	1/2	OMIM:618165
7157	TP53	HP:0002664	Neoplasm	HP:0040283	ORPHA:2807
7157	TP53	HP:0002664	Neoplasm	HP:0040281	ORPHA:524
7157	TP53	HP:0001324	Muscle weakness	HP:0040282	ORPHA:1501
7157	TP53	HP:0001324	Muscle weakness	HP:0040282	ORPHA:96253
7157	TP53	HP:0002669	Osteosarcoma	-	OMIM:151623
7157	TP53	HP:0002669	Osteosarcoma	1/1	OMIM:260500
7157	TP53	HP:0002669	Osteosarcoma	HP:0040283	ORPHA:524
7157	TP53	HP:0002669	Osteosarcoma	-	OMIM:259500
7157	TP53	HP:0002667	Nephroblastoma	-	OMIM:151623
7157	TP53	HP:0002665	Lymphoma	HP:0040283	ORPHA:524
7157	TP53	HP:0000006	Autosomal dominant inheritance	-	OMIM:260500
7157	TP53	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
7157	TP53	HP:0000006	Autosomal dominant inheritance	-	OMIM:137800
7157	TP53	HP:0000006	Autosomal dominant inheritance	-	OMIM:618165
7157	TP53	HP:0000006	Autosomal dominant inheritance	-	OMIM:151623
7157	TP53	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
7157	TP53	HP:0000006	Autosomal dominant inheritance	-	OMIM:260350
7157	TP53	HP:0000006	Autosomal dominant inheritance	-	OMIM:202300
7157	TP53	HP:0012189	Hodgkin lymphoma	HP:0040284	ORPHA:524
7157	TP53	HP:0012174	Glioblastoma multiforme	-	OMIM:137800
7157	TP53	HP:0012174	Glioblastoma multiforme	HP:0040283	ORPHA:524
7157	TP53	HP:0000141	Amenorrhea	HP:0040282	ORPHA:96253
7157	TP53	HP:0012125	Prostate cancer	HP:0040283	ORPHA:145
7157	TP53	HP:0012125	Prostate cancer	-	OMIM:151623
7157	TP53	HP:0012125	Prostate cancer	HP:0040284	ORPHA:524
7157	TP53	HP:0012126	Stomach cancer	HP:0040283	ORPHA:524
7157	TP53	HP:0012133	Erythroid hypoplasia	2/2	OMIM:618165
7157	TP53	HP:0025436	Elevated serum 11-deoxycortisol	HP:0040282	ORPHA:1501
7157	TP53	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:668
7157	TP53	HP:0000135	Hypogonadism	1/1	OMIM:618165
7157	TP53	HP:0002797	Osteolysis	HP:0040281	ORPHA:668
7157	TP53	HP:0410067	Increased level of L-fucose in urine	-	OMIM:260350
7157	TP53	HP:0031284	Flushing	HP:0040283	ORPHA:96253
7157	TP53	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	HP:0040282	ORPHA:1501
7157	TP53	HP:0500011	Moon facies	HP:0040282	ORPHA:96253
7157	TP53	HP:0007588	Reticular hyperpigmentation	2/2	OMIM:618165
7157	TP53	HP:0002756	Pathologic fracture	HP:0040284	ORPHA:668
7157	TP53	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
7157	TP53	HP:0001442	Typified by somatic mosaicism	-	OMIM:260350
7157	TP53	HP:0001442	Typified by somatic mosaicism	-	OMIM:137800
7157	TP53	HP:0001442	Typified by somatic mosaicism	-	OMIM:114550
7157	TP53	HP:0001442	Typified by somatic mosaicism	-	OMIM:259500
7157	TP53	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
7157	TP53	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:1333
7157	TP53	HP:0001402	Hepatocellular carcinoma	-	OMIM:114550
7157	TP53	HP:0002750	Delayed skeletal maturation	1/2	OMIM:618165
7157	TP53	HP:0002745	Oral leukoplakia	0/2	OMIM:618165
7157	TP53	HP:0001413	Micronodular cirrhosis	-	OMIM:114550
7157	TP53	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:1333
7157	TP53	HP:0002721	Immunodeficiency	HP:0040282	ORPHA:96253
7157	TP53	HP:0002018	Nausea	-	OMIM:260500
7157	TP53	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:1333
7157	TP53	HP:0002027	Abdominal pain	HP:0040282	ORPHA:1501
7157	TP53	HP:0002027	Abdominal pain	HP:0040281	ORPHA:1333
7157	TP53	HP:0002013	Vomiting	-	OMIM:260500
7157	TP53	HP:0100526	Neoplasm of the lung	HP:0040284	ORPHA:524
7157	TP53	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:96253
7157	TP53	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2807
7157	TP53	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:618165
7157	TP53	HP:0002076	Migraine	HP:0040282	ORPHA:3318
7157	TP53	HP:0002039	Anorexia	HP:0040281	ORPHA:1333
7157	TP53	HP:0011748	Adrenocorticotropic hormone deficiency	HP:0040282	ORPHA:1501
7157	TP53	HP:0100576	Amaurosis fugax	HP:0040281	ORPHA:3318
7157	TP53	HP:0100592	Peritoneal abscess	HP:0040283	ORPHA:1333
7157	TP53	HP:0040270	Impaired glucose tolerance	HP:0040282	ORPHA:96253
7157	TP53	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0040281	ORPHA:96253
7157	TP53	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0040282	ORPHA:1501
7157	TP53	HP:0003418	Back pain	HP:0040281	ORPHA:1333
7157	TP53	HP:0011875	Abnormal platelet morphology	HP:0040281	ORPHA:3318
7157	TP53	HP:0008221	Adrenal hyperplasia	HP:0040282	ORPHA:96253
7157	TP53	HP:0003401	Paresthesia	HP:0040281	ORPHA:3318
7157	TP53	HP:0008291	Pituitary corticotropic cell adenoma	HP:0040281	ORPHA:96253
7157	TP53	HP:0009592	Astrocytoma	-	OMIM:137800
7157	TP53	HP:0009592	Astrocytoma	HP:0040283	ORPHA:524
7157	TP53	HP:0003593	Infantile onset	1/2	OMIM:618165
7157	TP53	HP:0002254	Intermittent diarrhea	HP:0040283	ORPHA:1333
7157	TP53	HP:0003581	Adult onset	-	OMIM:260350
7157	TP53	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:96253
7157	TP53	HP:0002206	Pulmonary fibrosis	0/2	OMIM:618165
7157	TP53	HP:0100768	Choriocarcinoma	-	OMIM:151623
7157	TP53	HP:0100768	Choriocarcinoma	HP:0040284	ORPHA:524
7157	TP53	HP:0008404	Nail dystrophy	0/2	OMIM:618165
7157	TP53	HP:0100787	Prostate neoplasm	-	OMIM:151623
7157	TP53	HP:0100785	Insomnia	HP:0040282	ORPHA:3318
7157	TP53	HP:0009726	Renal neoplasm	HP:0040284	ORPHA:524
7157	TP53	HP:0100743	Neoplasm of the rectum	HP:0040284	ORPHA:524
7157	TP53	HP:0100749	Chest pain	HP:0040281	ORPHA:3318
7157	TP53	HP:0011999	Paranoia	HP:0040284	ORPHA:96253
7157	TP53	HP:0011974	Myelofibrosis	HP:0040283	ORPHA:3318
7157	TP53	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:524
7157	TP53	HP:0001058	Poor wound healing	HP:0040282	ORPHA:96253
7157	TP53	HP:0001050	Plethora	HP:0040282	ORPHA:96253
7157	TP53	HP:0025017	Capillary fragility	HP:0040282	ORPHA:96253
7157	TP53	HP:0001065	Striae distensae	HP:0040282	ORPHA:96253
7157	TP53	HP:0001065	Striae distensae	HP:0040282	ORPHA:1501
7157	TP53	HP:0001061	Acne	HP:0040282	ORPHA:96253
7157	TP53	HP:0001007	Hirsutism	HP:0040282	ORPHA:96253
7157	TP53	HP:0002354	Memory impairment	HP:0040283	ORPHA:96253
7157	TP53	HP:0002321	Vertigo	HP:0040282	ORPHA:3318
7157	TP53	HP:0002315	Headache	HP:0040282	ORPHA:3318
7157	TP53	HP:0002315	Headache	HP:0040283	ORPHA:96253
7157	TP53	HP:0002315	Headache	-	OMIM:260500
7157	TP53	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:3318
7157	TP53	HP:0200022	Choroid plexus papilloma	1/1	OMIM:260500
7157	TP53	HP:0200022	Choroid plexus papilloma	HP:0040281	ORPHA:2807
7157	TP53	HP:0100659	Abnormal cerebral vascular morphology	HP:0040281	ORPHA:3318
7157	TP53	HP:0100605	Neoplasm of the larynx	HP:0040284	ORPHA:524
7157	TP53	HP:0200063	Colorectal polyposis	HP:0040283	ORPHA:524
7157	TP53	HP:0100615	Ovarian neoplasm	HP:0040284	ORPHA:524
7157	TP53	HP:0100615	Ovarian neoplasm	HP:0040281	ORPHA:145
7157	TP53	HP:0100630	Neoplasia of the nasopharynx	-	OMIM:607107
7157	TP53	HP:0200042	Skin ulcer	HP:0040283	ORPHA:96253
7157	TP53	HP:0001085	Papilledema	-	OMIM:260500
7157	TP53	HP:0010788	Testicular neoplasm	HP:0040284	ORPHA:524
7157	TP53	HP:0032147	Erythromelalgia	HP:0040283	ORPHA:3318
7157	TP53	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:96253
7157	TP53	HP:0010741	Pedal edema	HP:0040284	ORPHA:96253
7157	TP53	HP:0003623	Neonatal onset	1/2	OMIM:618165
7157	TP53	HP:0004936	Venous thrombosis	HP:0040281	ORPHA:3318
7157	TP53	HP:0031845	Abnormal libido	HP:0040283	ORPHA:96253
7157	TP53	HP:0005513	Increased megakaryocyte count	HP:0040281	ORPHA:3318
7157	TP53	HP:0031891	Decreased total eosinophil count	HP:0040282	ORPHA:96253
7157	TP53	HP:0005584	Renal cell carcinoma	-	OMIM:114500
7157	TP53	HP:0005561	Abnormal bone marrow cell morphology	HP:0040281	ORPHA:3318
7157	TP53	HP:0001962	Palpitations	HP:0040282	ORPHA:1501
7157	TP53	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:96253
7157	TP53	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:3318
7157	TP53	HP:0001945	Fever	HP:0040284	ORPHA:668
7157	TP53	HP:0001956	Truncal obesity	HP:0040282	ORPHA:96253
7157	TP53	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040282	ORPHA:1501
7157	TP53	HP:0001909	Leukemia	HP:0040283	ORPHA:524
7157	TP53	HP:0001903	Anemia	2/2	OMIM:618165
7157	TP53	HP:0011370	Recurrent cutaneous fungal infections	HP:0040283	ORPHA:96253
7157	TP53	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:2807
7157	TP53	HP:0004324	Increased body weight	HP:0040282	ORPHA:96253
7157	TP53	HP:0004324	Increased body weight	HP:0040282	ORPHA:1501
7157	TP53	HP:0004322	Short stature	2/2	OMIM:618165
7157	TP53	HP:0003002	Breast carcinoma	-	OMIM:151623
7157	TP53	HP:0003002	Breast carcinoma	-	OMIM:114480
7157	TP53	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:524
7157	TP53	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:145
7157	TP53	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:1333
7157	TP53	HP:0003003	Colon cancer	-	OMIM:151623
7157	TP53	HP:0003003	Colon cancer	HP:0040284	ORPHA:524
7157	TP53	HP:0003003	Colon cancer	HP:0040283	ORPHA:1333
7157	TP53	HP:0004313	Decreased circulating immunoglobulin concentration	2/2	OMIM:618165
7157	TP53	HP:0004389	Intestinal pseudo-obstruction	HP:0040282	ORPHA:1333
7157	TP53	HP:0004396	Poor appetite	HP:0040281	ORPHA:1333
7157	TP53	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:2807
7157	TP53	HP:0003010	Prolonged bleeding time	HP:0040281	ORPHA:3318
7157	TP53	HP:0012743	Abdominal obesity	HP:0040282	ORPHA:96253
7157	TP53	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:524
7157	TP53	HP:0000737	Irritability	HP:0040282	ORPHA:1501
7157	TP53	HP:0000739	Anxiety	HP:0040282	ORPHA:1501
7157	TP53	HP:0000716	Depression	HP:0040283	ORPHA:96253
7157	TP53	HP:0000712	Emotional lability	HP:0040282	ORPHA:96253
7157	TP53	HP:0000726	Dementia	HP:0040284	ORPHA:96253
7157	TP53	HP:0000725	Psychotic episodes	HP:0040283	ORPHA:96253
7157	TP53	HP:0000709	Psychosis	HP:0040284	ORPHA:96253
7157	TP53	HP:0000708	Atypical behavior	HP:0040282	ORPHA:96253
7157	TP53	HP:0003110	Abnormality of urine homeostasis	HP:0040283	ORPHA:1501
7157	TP53	HP:0003118	Increased circulating cortisol level	HP:0040281	ORPHA:96253
7157	TP53	HP:0003118	Increased circulating cortisol level	HP:0040282	ORPHA:1501
7157	TP53	HP:0004420	Arterial thrombosis	HP:0040281	ORPHA:3318
7157	TP53	HP:0003154	Increased circulating ACTH level	HP:0040282	ORPHA:96253
7157	TP53	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:668
7157	TP53	HP:0000876	Oligomenorrhea	HP:0040283	ORPHA:96253
7157	TP53	HP:0000859	Increased circulating aldosterone concentration	HP:0040282	ORPHA:1501
7157	TP53	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:96253
7157	TP53	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:96253
7157	TP53	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:1501
7157	TP53	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1333
7157	TP53	HP:0000822	Hypertension	HP:0040282	ORPHA:1501
7157	TP53	HP:0000822	Hypertension	HP:0040282	ORPHA:96253
7157	TP53	HP:0010284	Intra-oral hyperpigmentation	HP:0040282	ORPHA:96253
7157	TP53	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:668
7157	TP53	HP:0000998	Hypertrichosis	HP:0040282	ORPHA:1501
7157	TP53	HP:0000979	Purpura	HP:0040283	ORPHA:96253
7157	TP53	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1501
7157	TP53	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:96253
7157	TP53	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:3318
7157	TP53	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:96253
7157	TP53	HP:0000952	Jaundice	HP:0040282	ORPHA:1333
7157	TP53	HP:0000963	Thin skin	HP:0040282	ORPHA:96253
7157	TP53	HP:0000939	Osteoporosis	HP:0040282	ORPHA:96253
7157	TP53	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:668
7157	TP53	HP:0012288	Neoplasm of head and neck	HP:0040284	ORPHA:524
7157	TP53	HP:0031413	Short telomere length	2/2	OMIM:618165
7157	TP53	HP:0031388	Megakaryocyte nucleus hyperlobulation	HP:0040281	ORPHA:3318
7157	TP53	HP:0030070	Central primitive neuroectodermal tumor	HP:0040283	ORPHA:524
7157	TP53	HP:0030078	Lung adenocarcinoma	-	OMIM:151623
7157	TP53	HP:0030078	Lung adenocarcinoma	HP:0040282	ORPHA:1501
7157	TP53	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:2807
7157	TP53	HP:0000238	Hydrocephalus	-	OMIM:260500
7157	TP53	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:1333
7157	TP53	HP:0000252	Microcephaly	2/2	OMIM:618165
7157	TP53	HP:0002894	Neoplasm of the pancreas	-	OMIM:260350
7157	TP53	HP:0002894	Neoplasm of the pancreas	-	OMIM:151623
7157	TP53	HP:0002894	Neoplasm of the pancreas	HP:0040284	ORPHA:524
7157	TP53	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:145
7157	TP53	HP:0002890	Thyroid carcinoma	HP:0040284	ORPHA:524
7157	TP53	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
7157	TP53	HP:0002888	Ependymoma	-	OMIM:137800
7157	TP53	HP:0002888	Ependymoma	HP:0040283	ORPHA:524
7157	TP53	HP:0002885	Medulloblastoma	HP:0040284	ORPHA:524
7157	TP53	HP:0002861	Melanoma	HP:0040284	ORPHA:524
7157	TP53	HP:0002861	Melanoma	HP:0040283	ORPHA:145
7157	TP53	HP:0002861	Melanoma	HP:0040283	ORPHA:1333
7157	TP53	HP:0002859	Rhabdomyosarcoma	HP:0040283	ORPHA:524
7157	TP53	HP:0002863	Myelodysplasia	HP:0040284	ORPHA:524
7157	TP53	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:3318
7157	TP53	HP:0031364	Ecchymosis	HP:0040283	ORPHA:96253
7157	TP53	HP:0001510	Growth delay	2/2	OMIM:618165
7157	TP53	HP:0007807	Optic nerve compression	HP:0040284	ORPHA:96253
7157	TP53	HP:0012378	Fatigue	HP:0040281	ORPHA:3318
7157	TP53	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040282	ORPHA:96253
7157	TP53	HP:0011027	Abnormal fallopian tube morphology	HP:0040281	ORPHA:145
7157	TP53	HP:0006572	Subacute progressive viral hepatitis	-	OMIM:114550
7157	TP53	HP:0005249	Functional intestinal obstruction	HP:0040282	ORPHA:1333
7157	TP53	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:1333
7157	TP53	HP:0002900	Hypokalemia	HP:0040282	ORPHA:1501
7157	TP53	HP:0006491	Abnormal tibial metaphysis morphology	HP:0040282	ORPHA:668
7157	TP53	HP:0006489	Abnormal femoral metaphysis morphology	HP:0040281	ORPHA:668
7157	TP53	HP:0012334	Extrahepatic cholestasis	HP:0040282	ORPHA:1333
7157	TP53	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:96253
7157	TP53	HP:0001658	Myocardial infarction	HP:0040281	ORPHA:3318
7157	TP53	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:96253
7157	TP53	HP:0002953	Vertebral compression fracture	HP:0040283	ORPHA:96253
7157	TP53	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:1333
7157	TP53	HP:0030243	Hepatic vein thrombosis	HP:0040283	ORPHA:3318
7157	TP53	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:96253
7157	TP53	HP:0012432	Chronic fatigue	HP:0040281	ORPHA:1333
7157	TP53	HP:0012410	Pure red cell aplasia	2/2	OMIM:618165
7157	TP53	HP:0001744	Splenomegaly	HP:0040282	ORPHA:3318
7157	TP53	HP:0025709	Intermediate young adult onset	1/1	OMIM:260500
7157	TP53	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
7157	TP53	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
7157	TP53	HP:0006744	Adrenocortical carcinoma	-	OMIM:151623
7157	TP53	HP:0006744	Adrenocortical carcinoma	1/1	OMIM:202300
7157	TP53	HP:0006744	Adrenocortical carcinoma	HP:0040280	ORPHA:1501
7157	TP53	HP:0006744	Adrenocortical carcinoma	HP:0040283	ORPHA:524
7157	TP53	HP:0006725	Pancreatic adenocarcinoma	HP:0040280	ORPHA:1333
7157	TP53	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
7157	TP53	HP:0030406	Primary peritoneal carcinoma	HP:0040281	ORPHA:145
7157	TP53	HP:0006721	Acute lymphoblastic leukemia	HP:0040284	ORPHA:524
7157	TP53	HP:0030448	Soft tissue sarcoma	-	OMIM:151623
7157	TP53	HP:0001824	Weight loss	HP:0040282	ORPHA:1501
7157	TP53	HP:0001824	Weight loss	HP:0040284	ORPHA:668
7157	TP53	HP:0001824	Weight loss	HP:0040281	ORPHA:1333
7157	TP53	HP:0000505	Visual impairment	HP:0040283	ORPHA:2807
7157	TP53	HP:0000505	Visual impairment	HP:0040283	ORPHA:3318
7157	TP53	HP:0030348	Increased circulating androgen concentration	HP:0040282	ORPHA:1501
7157	TP53	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:3318
7157	TP53	HP:0001894	Thrombocytosis	HP:0040281	ORPHA:3318
7157	TP53	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:96253
7157	TP53	HP:0012539	Non-Hodgkin lymphoma	HP:0040284	ORPHA:524
7157	TP53	HP:0030392	Choroid plexus carcinoma	1/1	OMIM:202300
7157	TP53	HP:0030392	Choroid plexus carcinoma	HP:0040283	ORPHA:524
7157	TP53	HP:0001872	Abnormality of thrombocytes	HP:0040281	ORPHA:3318
7157	TP53	HP:0012531	Pain	HP:0040282	ORPHA:668
7161	TP73	HP:0001274	Agenesis of corpus callosum	-	OMIM:619466
7161	TP73	HP:0001250	Seizure	2/7	OMIM:619466
7161	TP73	HP:0001339	Lissencephaly	7/7	OMIM:619466
7161	TP73	HP:0000007	Autosomal recessive inheritance	-	OMIM:619466
7161	TP73	HP:0002098	Respiratory distress	5/6	OMIM:619466
7161	TP73	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:619466
7161	TP73	HP:0002110	Bronchiectasis	-	OMIM:619466
7161	TP73	HP:0002205	Recurrent respiratory infections	6/6	OMIM:619466
7161	TP73	HP:0100750	Atelectasis	-	OMIM:619466
7161	TP73	HP:0003623	Neonatal onset	7/7	OMIM:619466
7161	TP73	HP:0000389	Chronic otitis media	-	OMIM:619466
7161	TP73	HP:0031602	Abnormal mucociliary clearance	-	OMIM:619466
7167	TPI1	HP:0001290	Generalized hypotonia	-	OMIM:615512
7167	TPI1	HP:0001252	Hypotonia	1/2	OMIM:615512
7167	TPI1	HP:0001252	Hypotonia	HP:0040281	ORPHA:868
7167	TPI1	HP:0001265	Hyporeflexia	-	OMIM:615512
7167	TPI1	HP:0001263	Global developmental delay	-	OMIM:615512
7167	TPI1	HP:0001257	Spasticity	-	OMIM:615512
7167	TPI1	HP:0010978	Abnormality of immune system physiology	HP:0040281	ORPHA:868
7167	TPI1	HP:0001332	Dystonia	-	OMIM:615512
7167	TPI1	HP:0001324	Muscle weakness	-	OMIM:615512
7167	TPI1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615512
7167	TPI1	HP:0001337	Tremor	-	OMIM:615512
7167	TPI1	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:615512
7167	TPI1	HP:0003323	Progressive muscle weakness	-	OMIM:615512
7167	TPI1	HP:0002098	Respiratory distress	2/2	OMIM:615512
7167	TPI1	HP:0002093	Respiratory insufficiency	1/2	OMIM:615512
7167	TPI1	HP:0002059	Cerebral atrophy	1/2	OMIM:615512
7167	TPI1	HP:0004870	Chronic hemolytic anemia	2/2	OMIM:615512
7167	TPI1	HP:0007009	Central nervous system degeneration	HP:0040281	ORPHA:868
7167	TPI1	HP:0002317	Unsteady gait	-	OMIM:615512
7167	TPI1	HP:0009830	Peripheral neuropathy	-	OMIM:615512
7167	TPI1	HP:0001081	Cholelithiasis	-	OMIM:615512
7167	TPI1	HP:0001082	Cholecystitis	-	OMIM:615512
7167	TPI1	HP:0003623	Neonatal onset	2/2	OMIM:615512
7167	TPI1	HP:0001972	Macrocytic anemia	1/2	OMIM:615512
7167	TPI1	HP:0000762	Decreased nerve conduction velocity	HP:0040283	ORPHA:868
7167	TPI1	HP:0011421	Death in adolescence	1/2	OMIM:615512
7167	TPI1	HP:0003198	Myopathy	-	OMIM:615512
7167	TPI1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:868
7167	TPI1	HP:0003202	Skeletal muscle atrophy	-	OMIM:615512
7167	TPI1	HP:0000952	Jaundice	-	OMIM:615512
7167	TPI1	HP:0002808	Kyphosis	-	OMIM:615512
7167	TPI1	HP:0002878	Respiratory failure	2/2	OMIM:615512
7167	TPI1	HP:0001562	Oligohydramnios	1/2	OMIM:615512
7167	TPI1	HP:0001522	Death in infancy	1/2	OMIM:615512
7167	TPI1	HP:0001508	Failure to thrive	1/2	OMIM:615512
7167	TPI1	HP:0006597	Diaphragmatic paralysis	HP:0040282	ORPHA:868
7167	TPI1	HP:0006579	Prolonged neonatal jaundice	2/2	OMIM:615512
7167	TPI1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:868
7167	TPI1	HP:0001635	Congestive heart failure	-	OMIM:615512
7167	TPI1	HP:0001744	Splenomegaly	-	OMIM:615512
7167	TPI1	HP:0001895	Normochromic anemia	-	OMIM:615512
7167	TPI1	HP:0001897	Normocytic anemia	-	OMIM:615512
7167	TPI1	HP:0001878	Hemolytic anemia	-	OMIM:615512
7167	TPI1	HP:0000543	Optic disc pallor	HP:0040283	OMIM:615512
7168	TPM1	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
7168	TPM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:115196
7168	TPM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:611878
7168	TPM1	HP:0033755	Increased left ventricular end-diastolic volume	3/5	OMIM:611878
7168	TPM1	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
7168	TPM1	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
7168	TPM1	HP:0004756	Ventricular tachycardia	1/6	OMIM:611878
7168	TPM1	HP:0003596	Middle age onset	5/15	OMIM:611878
7168	TPM1	HP:0003577	Congenital onset	1/5	OMIM:611878
7168	TPM1	HP:0003584	Late onset	1/5	OMIM:611878
7168	TPM1	HP:0003623	Neonatal onset	2/5	OMIM:611878
7168	TPM1	HP:0011463	Childhood onset	1/10	OMIM:611878
7168	TPM1	HP:0011462	Young adult onset	8/20	OMIM:611878
7168	TPM1	HP:0011461	Fetal onset	2/5	OMIM:611878
7168	TPM1	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
7168	TPM1	HP:0003198	Myopathy	HP:0040283	ORPHA:154
7168	TPM1	HP:0010316	Ebstein anomaly of the tricuspid valve	2/5	OMIM:611878
7168	TPM1	HP:0000969	Edema	HP:0040282	ORPHA:154
7168	TPM1	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
7168	TPM1	HP:0011664	Left ventricular noncompaction cardiomyopathy	9/10	OMIM:611878
7168	TPM1	HP:0005110	Atrial fibrillation	1/5	OMIM:611878
7168	TPM1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
7168	TPM1	HP:0012378	Fatigue	HP:0040282	ORPHA:154
7168	TPM1	HP:0001645	Sudden cardiac death	13/26	OMIM:115196
7168	TPM1	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
7168	TPM1	HP:0001644	Dilated cardiomyopathy	5/8	OMIM:611878
7168	TPM1	HP:0001653	Mitral regurgitation	1/5	OMIM:611878
7168	TPM1	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:115196
7168	TPM1	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
7168	TPM1	HP:0001635	Congestive heart failure	6/12	OMIM:611878
7168	TPM1	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
7168	TPM1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
7169	TPM2	HP:0001188	Hand clenching	-	OMIM:108120
7169	TPM2	HP:0001181	Adducted thumb	-	OMIM:108120
7169	TPM2	HP:0001181	Adducted thumb	HP:0040281	ORPHA:1147
7169	TPM2	HP:0001181	Adducted thumb	HP:0040281	ORPHA:1146
7169	TPM2	HP:0002483	Bulbar signs	HP:0040283	ORPHA:171439
7169	TPM2	HP:0003798	Nemaline bodies	8/9	OMIM:609285
7169	TPM2	HP:0003798	Nemaline bodies	HP:0040281	ORPHA:171439
7169	TPM2	HP:0003798	Nemaline bodies	HP:0040283	ORPHA:171436
7169	TPM2	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	8/15	OMIM:108120
7169	TPM2	HP:0007210	Lower limb amyotrophy	HP:0040283	ORPHA:171881
7169	TPM2	HP:0002421	Poor head control	HP:0040283	ORPHA:171881
7169	TPM2	HP:0002421	Poor head control	HP:0040282	ORPHA:2020
7169	TPM2	HP:0003749	Pelvic girdle muscle weakness	HP:0040283	ORPHA:2020
7169	TPM2	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:171436
7169	TPM2	HP:0003738	Exercise-induced myalgia	2/8	OMIM:609285
7169	TPM2	HP:0003701	Proximal muscle weakness	4/8	OMIM:609285
7169	TPM2	HP:0003700	Generalized amyotrophy	HP:0040283	ORPHA:171881
7169	TPM2	HP:0001290	Generalized hypotonia	-	OMIM:609285
7169	TPM2	HP:0001290	Generalized hypotonia	-	OMIM:108120
7169	TPM2	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:171881
7169	TPM2	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:171439
7169	TPM2	HP:0001276	Hypertonia	1/8	OMIM:609285
7169	TPM2	HP:0001270	Motor delay	1/1	OMIM:609285
7169	TPM2	HP:0001270	Motor delay	HP:0040282	ORPHA:171881
7169	TPM2	HP:0001270	Motor delay	HP:0040282	ORPHA:2020
7169	TPM2	HP:0001270	Motor delay	HP:0040282	ORPHA:171439
7169	TPM2	HP:0001288	Gait disturbance	2/2	OMIM:609285
7169	TPM2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:171436
7169	TPM2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:171439
7169	TPM2	HP:0001284	Areflexia	HP:0040282	ORPHA:2020
7169	TPM2	HP:0001284	Areflexia	HP:0040283	ORPHA:171439
7169	TPM2	HP:0100830	Round ear	HP:0040282	ORPHA:1147
7169	TPM2	HP:0001250	Seizure	1/8	OMIM:609285
7169	TPM2	HP:0001252	Hypotonia	1/2	OMIM:609285
7169	TPM2	HP:0001252	Hypotonia	HP:0040281	ORPHA:2020
7169	TPM2	HP:0001249	Intellectual disability	0/15	OMIM:108120
7169	TPM2	HP:0001265	Hyporeflexia	-	OMIM:609285
7169	TPM2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:171436
7169	TPM2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:171439
7169	TPM2	HP:0033685	Fiber type grouping	1/6	OMIM:609285
7169	TPM2	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:171881
7169	TPM2	HP:0007340	Lower limb muscle weakness	2/2	OMIM:609285
7169	TPM2	HP:0002515	Waddling gait	HP:0040283	ORPHA:171436
7169	TPM2	HP:0002515	Waddling gait	-	OMIM:609285
7169	TPM2	HP:0002515	Waddling gait	HP:0040283	ORPHA:171439
7169	TPM2	HP:0002527	Falls	1/8	OMIM:609285
7169	TPM2	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171436
7169	TPM2	HP:0003803	Type 1 muscle fiber predominance	1/7	OMIM:609285
7169	TPM2	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171439
7169	TPM2	HP:0001374	Congenital hip dislocation	-	OMIM:108120
7169	TPM2	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:2020
7169	TPM2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:171436
7169	TPM2	HP:0001371	Flexion contracture	HP:0040282	ORPHA:2020
7169	TPM2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:171439
7169	TPM2	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1147
7169	TPM2	HP:0001387	Joint stiffness	HP:0040282	ORPHA:1146
7169	TPM2	HP:0001349	Facial diplegia	-	OMIM:609285
7169	TPM2	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171439
7169	TPM2	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171436
7169	TPM2	HP:0000028	Cryptorchidism	-	OMIM:108120
7169	TPM2	HP:0008872	Feeding difficulties in infancy	1/2	OMIM:609285
7169	TPM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:609285
7169	TPM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:108120
7169	TPM2	HP:0002650	Scoliosis	-	OMIM:108120
7169	TPM2	HP:0002650	Scoliosis	2/8	OMIM:609285
7169	TPM2	HP:0002650	Scoliosis	HP:0040283	ORPHA:171436
7169	TPM2	HP:0002650	Scoliosis	HP:0040283	ORPHA:2020
7169	TPM2	HP:0002650	Scoliosis	HP:0040281	ORPHA:1147
7169	TPM2	HP:0002650	Scoliosis	HP:0040283	ORPHA:171439
7169	TPM2	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:171436
7169	TPM2	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:171881
7169	TPM2	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:2020
7169	TPM2	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:171881
7169	TPM2	HP:0000160	Narrow mouth	HP:0040283	ORPHA:1146
7169	TPM2	HP:0000160	Narrow mouth	-	OMIM:108120
7169	TPM2	HP:0007598	Bilateral single transverse palmar creases	HP:0040281	ORPHA:1147
7169	TPM2	HP:0002792	Reduced vital capacity	-	OMIM:609285
7169	TPM2	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:171439
7169	TPM2	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:2020
7169	TPM2	HP:0002751	Kyphoscoliosis	-	OMIM:609285
7169	TPM2	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:2020
7169	TPM2	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:171439
7169	TPM2	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:171436
7169	TPM2	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:171436
7169	TPM2	HP:0002015	Dysphagia	1/8	OMIM:609285
7169	TPM2	HP:0002015	Dysphagia	HP:0040282	ORPHA:2020
7169	TPM2	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:171436
7169	TPM2	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:2020
7169	TPM2	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:171436
7169	TPM2	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:171439
7169	TPM2	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:2020
7169	TPM2	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:2020
7169	TPM2	HP:0011807	Type 1 muscle fiber atrophy	HP:0040281	ORPHA:2020
7169	TPM2	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:2020
7169	TPM2	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:171436
7169	TPM2	HP:0002067	Bradykinesia	HP:0040282	ORPHA:171439
7169	TPM2	HP:0002068	Neuromuscular dysphagia	HP:0040282	ORPHA:171439
7169	TPM2	HP:0003391	Gowers sign	HP:0040283	ORPHA:171881
7169	TPM2	HP:0003391	Gowers sign	-	OMIM:609285
7169	TPM2	HP:0002058	Myopathic facies	2/3	OMIM:609285
7169	TPM2	HP:0002058	Myopathic facies	HP:0040282	ORPHA:2020
7169	TPM2	HP:0003388	Easy fatigability	HP:0040283	ORPHA:171881
7169	TPM2	HP:0003388	Easy fatigability	HP:0040282	ORPHA:2020
7169	TPM2	HP:0009465	Ulnar deviation of finger	HP:0040282	ORPHA:1147
7169	TPM2	HP:0009465	Ulnar deviation of finger	HP:0040282	ORPHA:1146
7169	TPM2	HP:0033142	Long nasal bridge	-	OMIM:108120
7169	TPM2	HP:0011703	Sinus tachycardia	HP:0040283	ORPHA:171881
7169	TPM2	HP:0008180	Mildly elevated creatine kinase	HP:0040283	ORPHA:171439
7169	TPM2	HP:0009473	Joint contracture of the hand	-	OMIM:108120
7169	TPM2	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:171439
7169	TPM2	HP:0003422	Vertebral segmentation defect	HP:0040282	ORPHA:1147
7169	TPM2	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:1146
7169	TPM2	HP:0010557	Overlapping fingers	14/15	OMIM:108120
7169	TPM2	HP:0010557	Overlapping fingers	HP:0040282	ORPHA:1147
7169	TPM2	HP:0010557	Overlapping fingers	HP:0040281	ORPHA:1146
7169	TPM2	HP:0011842	Abnormal skeletal morphology	HP:0040282	ORPHA:2020
7169	TPM2	HP:0003593	Infantile onset	2/7	OMIM:609285
7169	TPM2	HP:0003577	Congenital onset	4/9	OMIM:609285
7169	TPM2	HP:0003555	Muscle fiber splitting	4/7	OMIM:609285
7169	TPM2	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:171439
7169	TPM2	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:171881
7169	TPM2	HP:0003547	Shoulder girdle muscle weakness	HP:0040283	ORPHA:2020
7169	TPM2	HP:0004878	Intercostal muscle weakness	HP:0040283	ORPHA:2020
7169	TPM2	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:171439
7169	TPM2	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:171436
7169	TPM2	HP:0003557	Increased variability in muscle fiber diameter	HP:0040283	ORPHA:171881
7169	TPM2	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:171439
7169	TPM2	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:2020
7169	TPM2	HP:0009742	Stiff shoulders	-	OMIM:108120
7169	TPM2	HP:0100753	Schizophrenia	2/8	OMIM:609285
7169	TPM2	HP:0008368	Tarsal synostosis	HP:0040282	ORPHA:1147
7169	TPM2	HP:0007010	Poor fine motor coordination	-	ORPHA:171439
7169	TPM2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:171436
7169	TPM2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2020
7169	TPM2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:171439
7169	TPM2	HP:0010628	Facial palsy	HP:0040282	ORPHA:171436
7169	TPM2	HP:0010628	Facial palsy	HP:0040283	ORPHA:171881
7169	TPM2	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:2020
7169	TPM2	HP:0001032	Absent distal interphalangeal creases	11/15	OMIM:108120
7169	TPM2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:2020
7169	TPM2	HP:0003691	Scapular winging	-	OMIM:609285
7169	TPM2	HP:0003691	Scapular winging	HP:0040283	ORPHA:171439
7169	TPM2	HP:0003690	Limb muscle weakness	-	OMIM:609285
7169	TPM2	HP:0003690	Limb muscle weakness	HP:0040282	ORPHA:171439
7169	TPM2	HP:0002359	Frequent falls	HP:0040283	ORPHA:171881
7169	TPM2	HP:0002375	Hypokinesia	HP:0040283	ORPHA:171436
7169	TPM2	HP:0003687	Centrally nucleated skeletal muscle fibers	4/7	OMIM:609285
7169	TPM2	HP:0002315	Headache	HP:0040283	ORPHA:2020
7169	TPM2	HP:0007110	Central hypoventilation	HP:0040283	ORPHA:171881
7169	TPM2	HP:0002312	Clumsiness	HP:0040282	ORPHA:171439
7169	TPM2	HP:0003621	Juvenile onset	1/2	OMIM:609285
7169	TPM2	HP:0034045	Angulated muscle fibers	2/7	OMIM:609285
7169	TPM2	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2020
7169	TPM2	HP:0009055	Generalized limb muscle atrophy	HP:0040282	ORPHA:171439
7169	TPM2	HP:0009058	Increased muscle lipid content	HP:0040282	ORPHA:171439
7169	TPM2	HP:0009046	Difficulty running	HP:0040283	ORPHA:171881
7169	TPM2	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:171436
7169	TPM2	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:2020
7169	TPM2	HP:0000678	Dental crowding	HP:0040282	ORPHA:2020
7169	TPM2	HP:0009004	Hypoplasia of the musculature	HP:0040283	ORPHA:2020
7169	TPM2	HP:0001989	Fetal akinesia sequence	HP:0040283	ORPHA:171439
7169	TPM2	HP:0004322	Short stature	-	OMIM:108120
7169	TPM2	HP:0004322	Short stature	HP:0040282	ORPHA:1147
7169	TPM2	HP:0004303	Abnormal muscle fiber morphology	HP:0040282	ORPHA:171881
7169	TPM2	HP:0004396	Poor appetite	HP:0040282	ORPHA:2020
7169	TPM2	HP:0003049	Ulnar deviation of the wrist	HP:0040282	ORPHA:1147
7169	TPM2	HP:0004347	Weakness of muscles of respiration	HP:0040282	ORPHA:2020
7169	TPM2	HP:0031936	Delayed ability to walk	1/7	OMIM:609285
7169	TPM2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:171436
7169	TPM2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:171881
7169	TPM2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:2020
7169	TPM2	HP:0000768	Pectus carinatum	2/8	OMIM:609285
7169	TPM2	HP:0000709	Psychosis	3/8	OMIM:609285
7169	TPM2	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:2020
7169	TPM2	HP:0012785	Flexion contracture of finger	HP:0040283	ORPHA:2020
7169	TPM2	HP:0011463	Childhood onset	2/7	OMIM:609285
7169	TPM2	HP:0000774	Narrow chest	HP:0040283	ORPHA:171436
7169	TPM2	HP:0000774	Narrow chest	HP:0040283	ORPHA:171439
7169	TPM2	HP:0003198	Myopathy	HP:0040283	ORPHA:171436
7169	TPM2	HP:0003198	Myopathy	HP:0040281	ORPHA:171439
7169	TPM2	HP:0003184	Decreased hip abduction	-	OMIM:108120
7169	TPM2	HP:0003236	Elevated circulating creatine kinase concentration	4/8	OMIM:609285
7169	TPM2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:171436
7169	TPM2	HP:0003202	Skeletal muscle atrophy	-	OMIM:609285
7169	TPM2	HP:0034392	Joint contracture	8/8	OMIM:609285
7169	TPM2	HP:0003273	Hip contracture	-	OMIM:108120
7169	TPM2	HP:0003273	Hip contracture	HP:0040283	ORPHA:2020
7169	TPM2	HP:0003272	Abnormal hip bone morphology	HP:0040282	ORPHA:1147
7169	TPM2	HP:0003272	Abnormal hip bone morphology	HP:0040283	ORPHA:1146
7169	TPM2	HP:0000954	Single transverse palmar crease	-	OMIM:108120
7169	TPM2	HP:0008081	Pes valgus	HP:0040283	ORPHA:171881
7169	TPM2	HP:0000278	Retrognathia	-	OMIM:108120
7169	TPM2	HP:0000275	Narrow face	HP:0040283	ORPHA:171436
7169	TPM2	HP:0000275	Narrow face	HP:0040282	ORPHA:1147
7169	TPM2	HP:0000275	Narrow face	HP:0040283	ORPHA:171439
7169	TPM2	HP:0000276	Long face	HP:0040282	ORPHA:171881
7169	TPM2	HP:0000276	Long face	HP:0040283	ORPHA:2020
7169	TPM2	HP:0000276	Long face	HP:0040283	ORPHA:171439
7169	TPM2	HP:0006466	Ankle flexion contracture	HP:0040283	ORPHA:2020
7169	TPM2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:171436
7169	TPM2	HP:0002808	Kyphosis	HP:0040284	ORPHA:171436
7169	TPM2	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:171436
7169	TPM2	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:108120
7169	TPM2	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	ORPHA:171439
7169	TPM2	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:2020
7169	TPM2	HP:0006380	Knee flexion contracture	-	OMIM:108120
7169	TPM2	HP:0031318	Myofiber disarray	2/7	OMIM:609285
7169	TPM2	HP:0002878	Respiratory failure	HP:0040283	ORPHA:2020
7169	TPM2	HP:0000218	High palate	-	OMIM:609285
7169	TPM2	HP:0000218	High palate	HP:0040282	ORPHA:171436
7169	TPM2	HP:0000218	High palate	HP:0040282	ORPHA:171881
7169	TPM2	HP:0000218	High palate	HP:0040282	ORPHA:2020
7169	TPM2	HP:0000218	High palate	HP:0040282	ORPHA:1147
7169	TPM2	HP:0000218	High palate	HP:0040283	ORPHA:171439
7169	TPM2	HP:0002877	Nocturnal hypoventilation	HP:0040283	ORPHA:171436
7169	TPM2	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:171436
7169	TPM2	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:2020
7169	TPM2	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:171439
7169	TPM2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:2020
7169	TPM2	HP:0002857	Genu valgum	HP:0040283	ORPHA:171436
7169	TPM2	HP:0000211	Trismus	-	OMIM:108120
7169	TPM2	HP:0001533	Slender build	HP:0040283	ORPHA:171439
7169	TPM2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2020
7169	TPM2	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:171881
7169	TPM2	HP:0030051	Tip-toe gait	1/8	OMIM:609285
7169	TPM2	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:1147
7169	TPM2	HP:0012378	Fatigue	HP:0040282	ORPHA:2020
7169	TPM2	HP:0012378	Fatigue	1/8	OMIM:609285
7169	TPM2	HP:0012385	Camptodactyly	6/15	OMIM:108120
7169	TPM2	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040283	ORPHA:171436
7169	TPM2	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040283	ORPHA:171881
7169	TPM2	HP:0005216	Impaired mastication	HP:0040283	ORPHA:2020
7169	TPM2	HP:0001609	Hoarse voice	HP:0040283	ORPHA:2020
7169	TPM2	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:171881
7169	TPM2	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040283	ORPHA:171436
7169	TPM2	HP:0002942	Thoracic kyphosis	1/8	OMIM:609285
7169	TPM2	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040283	ORPHA:171439
7169	TPM2	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:2020
7169	TPM2	HP:0002943	Thoracic scoliosis	HP:0040283	ORPHA:171881
7169	TPM2	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:171881
7169	TPM2	HP:0030198	Fatigable weakness of distal limb muscles	HP:0040282	ORPHA:171436
7169	TPM2	HP:0000369	Low-set ears	-	OMIM:108120
7169	TPM2	HP:0000347	Micrognathia	HP:0040283	ORPHA:171436
7169	TPM2	HP:0000347	Micrognathia	HP:0040283	ORPHA:2020
7169	TPM2	HP:0000347	Micrognathia	HP:0040282	ORPHA:1147
7169	TPM2	HP:0000347	Micrognathia	HP:0040283	ORPHA:171439
7169	TPM2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:171439
7169	TPM2	HP:0001648	Cor pulmonale	HP:0040283	ORPHA:2020
7169	TPM2	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:2020
7169	TPM2	HP:0002987	Elbow flexion contracture	-	OMIM:108120
7169	TPM2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2020
7169	TPM2	HP:0001623	Breech presentation	HP:0040283	ORPHA:171439
7169	TPM2	HP:0002970	Genu varum	HP:0040283	ORPHA:171436
7169	TPM2	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:171439
7169	TPM2	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:171881
7169	TPM2	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:2020
7169	TPM2	HP:0006673	Reduced systolic function	HP:0040283	ORPHA:171881
7169	TPM2	HP:0000407	Sensorineural hearing impairment	HP:0040284	OMIM:108120
7169	TPM2	HP:0030230	Central core regions in muscle fibers	3/7	OMIM:609285
7169	TPM2	HP:0000470	Short neck	HP:0040283	ORPHA:171436
7169	TPM2	HP:0000470	Short neck	HP:0040282	ORPHA:1147
7169	TPM2	HP:0000465	Webbed neck	-	OMIM:108120
7169	TPM2	HP:0000465	Webbed neck	HP:0040281	ORPHA:1147
7169	TPM2	HP:0000467	Neck muscle weakness	3/3	OMIM:609285
7169	TPM2	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:171439
7169	TPM2	HP:0001763	Pes planus	HP:0040283	ORPHA:171881
7169	TPM2	HP:0001763	Pes planus	1/8	OMIM:609285
7169	TPM2	HP:0012416	Hypercapnia	HP:0040283	ORPHA:2020
7169	TPM2	HP:0012418	Hypoxemia	HP:0040283	ORPHA:2020
7169	TPM2	HP:0000411	Protruding ear	HP:0040282	ORPHA:1147
7169	TPM2	HP:0001762	Talipes equinovarus	9/15	OMIM:108120
7169	TPM2	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:2020
7169	TPM2	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:1147
7169	TPM2	HP:0001761	Pes cavus	HP:0040283	ORPHA:2020
7169	TPM2	HP:0001761	Pes cavus	HP:0040283	ORPHA:171439
7169	TPM2	HP:0001848	Calcaneovalgus deformity	-	OMIM:108120
7169	TPM2	HP:0001845	Overlapping toe	-	OMIM:108120
7169	TPM2	HP:0001824	Weight loss	HP:0040282	ORPHA:2020
7169	TPM2	HP:0001838	Rocker bottom foot	11/25	OMIM:108120
7169	TPM2	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:1146
7169	TPM2	HP:0000508	Ptosis	-	OMIM:108120
7169	TPM2	HP:0000508	Ptosis	HP:0040283	ORPHA:171436
7169	TPM2	HP:0000508	Ptosis	HP:0040284	ORPHA:171439
7169	TPM2	HP:0001883	Talipes	HP:0040282	ORPHA:1146
7170	TPM3	HP:0002483	Bulbar signs	HP:0040283	ORPHA:171439
7170	TPM3	HP:0003798	Nemaline bodies	-	OMIM:609284
7170	TPM3	HP:0003798	Nemaline bodies	HP:0040281	ORPHA:171439
7170	TPM3	HP:0003798	Nemaline bodies	HP:0040281	ORPHA:171433
7170	TPM3	HP:0007210	Lower limb amyotrophy	HP:0040283	ORPHA:171881
7170	TPM3	HP:0002421	Poor head control	HP:0040283	ORPHA:171881
7170	TPM3	HP:0002421	Poor head control	HP:0040282	ORPHA:2020
7170	TPM3	HP:0003749	Pelvic girdle muscle weakness	HP:0040283	ORPHA:2020
7170	TPM3	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	-	OMIM:255310
7170	TPM3	HP:0003724	Shoulder girdle muscle atrophy	-	OMIM:609284
7170	TPM3	HP:0003701	Proximal muscle weakness	-	OMIM:255310
7170	TPM3	HP:0003701	Proximal muscle weakness	-	OMIM:609284
7170	TPM3	HP:0003700	Generalized amyotrophy	HP:0040283	ORPHA:171881
7170	TPM3	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:171881
7170	TPM3	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:171439
7170	TPM3	HP:0001270	Motor delay	-	OMIM:609284
7170	TPM3	HP:0001270	Motor delay	HP:0040282	ORPHA:171433
7170	TPM3	HP:0001270	Motor delay	HP:0040282	ORPHA:171881
7170	TPM3	HP:0001270	Motor delay	HP:0040282	ORPHA:2020
7170	TPM3	HP:0001270	Motor delay	HP:0040282	ORPHA:171439
7170	TPM3	HP:0001288	Gait disturbance	HP:0040282	ORPHA:171433
7170	TPM3	HP:0001288	Gait disturbance	HP:0040282	ORPHA:171439
7170	TPM3	HP:0001283	Bulbar palsy	-	OMIM:255310
7170	TPM3	HP:0001284	Areflexia	HP:0040283	ORPHA:171433
7170	TPM3	HP:0001284	Areflexia	HP:0040282	ORPHA:2020
7170	TPM3	HP:0001284	Areflexia	HP:0040283	ORPHA:171439
7170	TPM3	HP:0001252	Hypotonia	HP:0040281	ORPHA:2020
7170	TPM3	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:171433
7170	TPM3	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:171439
7170	TPM3	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:171881
7170	TPM3	HP:0002515	Waddling gait	HP:0040283	ORPHA:171439
7170	TPM3	HP:0003828	Variable expressivity	-	OMIM:255310
7170	TPM3	HP:0032341	Reduced forced vital capacity	-	OMIM:255310
7170	TPM3	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171433
7170	TPM3	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171439
7170	TPM3	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:2020
7170	TPM3	HP:0001374	Congenital hip dislocation	-	OMIM:255310
7170	TPM3	HP:0001371	Flexion contracture	HP:0040282	ORPHA:171433
7170	TPM3	HP:0001371	Flexion contracture	HP:0040282	ORPHA:2020
7170	TPM3	HP:0001371	Flexion contracture	HP:0040283	ORPHA:171439
7170	TPM3	HP:0001371	Flexion contracture	-	OMIM:609284
7170	TPM3	HP:0001349	Facial diplegia	-	OMIM:609284
7170	TPM3	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171439
7170	TPM3	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171433
7170	TPM3	HP:0000007	Autosomal recessive inheritance	-	OMIM:609284
7170	TPM3	HP:0000007	Autosomal recessive inheritance	-	OMIM:255310
7170	TPM3	HP:0000006	Autosomal dominant inheritance	-	OMIM:609284
7170	TPM3	HP:0000006	Autosomal dominant inheritance	-	OMIM:255310
7170	TPM3	HP:0002650	Scoliosis	-	OMIM:255310
7170	TPM3	HP:0002650	Scoliosis	-	OMIM:609284
7170	TPM3	HP:0002650	Scoliosis	HP:0040283	ORPHA:2020
7170	TPM3	HP:0002650	Scoliosis	HP:0040283	ORPHA:171439
7170	TPM3	HP:0001319	Neonatal hypotonia	-	OMIM:255310
7170	TPM3	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:171881
7170	TPM3	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:2020
7170	TPM3	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:171881
7170	TPM3	HP:0008944	Distal lower limb amyotrophy	-	OMIM:609284
7170	TPM3	HP:0002705	High, narrow palate	HP:0040283	ORPHA:171433
7170	TPM3	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:171439
7170	TPM3	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:2020
7170	TPM3	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:2020
7170	TPM3	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:255310
7170	TPM3	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:171439
7170	TPM3	HP:0002015	Dysphagia	-	OMIM:609284
7170	TPM3	HP:0002015	Dysphagia	HP:0040282	ORPHA:171433
7170	TPM3	HP:0002015	Dysphagia	HP:0040282	ORPHA:2020
7170	TPM3	HP:0002015	Dysphagia	-	OMIM:255310
7170	TPM3	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:2020
7170	TPM3	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:171439
7170	TPM3	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:2020
7170	TPM3	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:171433
7170	TPM3	HP:0003324	Generalized muscle weakness	-	OMIM:609284
7170	TPM3	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:2020
7170	TPM3	HP:0003324	Generalized muscle weakness	-	OMIM:255310
7170	TPM3	HP:0011807	Type 1 muscle fiber atrophy	HP:0040281	ORPHA:2020
7170	TPM3	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:2020
7170	TPM3	HP:0002093	Respiratory insufficiency	-	OMIM:255310
7170	TPM3	HP:0002093	Respiratory insufficiency	-	OMIM:609284
7170	TPM3	HP:0002067	Bradykinesia	HP:0040282	ORPHA:171439
7170	TPM3	HP:0002068	Neuromuscular dysphagia	HP:0040282	ORPHA:171439
7170	TPM3	HP:0003391	Gowers sign	HP:0040283	ORPHA:171881
7170	TPM3	HP:0002058	Myopathic facies	HP:0040282	ORPHA:171433
7170	TPM3	HP:0002058	Myopathic facies	HP:0040282	ORPHA:2020
7170	TPM3	HP:0003388	Easy fatigability	HP:0040283	ORPHA:171881
7170	TPM3	HP:0003388	Easy fatigability	HP:0040282	ORPHA:2020
7170	TPM3	HP:0011703	Sinus tachycardia	HP:0040283	ORPHA:171881
7170	TPM3	HP:0008180	Mildly elevated creatine kinase	HP:0040283	ORPHA:171439
7170	TPM3	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:171433
7170	TPM3	HP:0003458	EMG: myopathic abnormalities	-	OMIM:609284
7170	TPM3	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:171439
7170	TPM3	HP:0011842	Abnormal skeletal morphology	HP:0040282	ORPHA:2020
7170	TPM3	HP:0003577	Congenital onset	-	OMIM:255310
7170	TPM3	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:171439
7170	TPM3	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:171881
7170	TPM3	HP:0003547	Shoulder girdle muscle weakness	HP:0040283	ORPHA:2020
7170	TPM3	HP:0004878	Intercostal muscle weakness	HP:0040283	ORPHA:2020
7170	TPM3	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:171439
7170	TPM3	HP:0003557	Increased variability in muscle fiber diameter	HP:0040283	ORPHA:171881
7170	TPM3	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:171439
7170	TPM3	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:2020
7170	TPM3	HP:0007010	Poor fine motor coordination	-	ORPHA:171439
7170	TPM3	HP:0011968	Feeding difficulties	-	OMIM:255310
7170	TPM3	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2020
7170	TPM3	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:171439
7170	TPM3	HP:0010628	Facial palsy	HP:0040282	ORPHA:171433
7170	TPM3	HP:0010628	Facial palsy	HP:0040283	ORPHA:171881
7170	TPM3	HP:0010628	Facial palsy	-	OMIM:255310
7170	TPM3	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:2020
7170	TPM3	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:2020
7170	TPM3	HP:0003691	Scapular winging	HP:0040283	ORPHA:171439
7170	TPM3	HP:0003690	Limb muscle weakness	HP:0040282	ORPHA:171439
7170	TPM3	HP:0002359	Frequent falls	HP:0040283	ORPHA:171881
7170	TPM3	HP:0002375	Hypokinesia	HP:0040282	ORPHA:171433
7170	TPM3	HP:0003687	Centrally nucleated skeletal muscle fibers	-	OMIM:255310
7170	TPM3	HP:0002315	Headache	HP:0040283	ORPHA:2020
7170	TPM3	HP:0007110	Central hypoventilation	HP:0040283	ORPHA:171881
7170	TPM3	HP:0002312	Clumsiness	HP:0040282	ORPHA:171439
7170	TPM3	HP:0003621	Juvenile onset	-	OMIM:609284
7170	TPM3	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:171433
7170	TPM3	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:171433
7170	TPM3	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2020
7170	TPM3	HP:0000602	Ophthalmoplegia	-	OMIM:255310
7170	TPM3	HP:0009053	Distal lower limb muscle weakness	-	OMIM:609284
7170	TPM3	HP:0009055	Generalized limb muscle atrophy	HP:0040282	ORPHA:171439
7170	TPM3	HP:0009058	Increased muscle lipid content	HP:0040282	ORPHA:171439
7170	TPM3	HP:0009046	Difficulty running	HP:0040283	ORPHA:171881
7170	TPM3	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:2020
7170	TPM3	HP:0000678	Dental crowding	HP:0040282	ORPHA:2020
7170	TPM3	HP:0009004	Hypoplasia of the musculature	HP:0040283	ORPHA:2020
7170	TPM3	HP:0001989	Fetal akinesia sequence	HP:0040283	ORPHA:171439
7170	TPM3	HP:0004303	Abnormal muscle fiber morphology	HP:0040282	ORPHA:171881
7170	TPM3	HP:0004396	Poor appetite	HP:0040282	ORPHA:2020
7170	TPM3	HP:0004347	Weakness of muscles of respiration	HP:0040282	ORPHA:2020
7170	TPM3	HP:0000767	Pectus excavatum	-	OMIM:609284
7170	TPM3	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:171881
7170	TPM3	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:2020
7170	TPM3	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:171433
7170	TPM3	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:2020
7170	TPM3	HP:0012785	Flexion contracture of finger	HP:0040283	ORPHA:2020
7170	TPM3	HP:0000774	Narrow chest	HP:0040283	ORPHA:171439
7170	TPM3	HP:0003121	Limb joint contracture	-	OMIM:255310
7170	TPM3	HP:0003198	Myopathy	HP:0040281	ORPHA:171439
7170	TPM3	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:171433
7170	TPM3	HP:0005855	Multiple prenatal fractures	HP:0040282	ORPHA:171433
7170	TPM3	HP:0003273	Hip contracture	HP:0040283	ORPHA:2020
7170	TPM3	HP:0008081	Pes valgus	HP:0040283	ORPHA:171881
7170	TPM3	HP:0000275	Narrow face	-	OMIM:609284
7170	TPM3	HP:0000275	Narrow face	-	OMIM:255310
7170	TPM3	HP:0000275	Narrow face	HP:0040283	ORPHA:171439
7170	TPM3	HP:0000276	Long face	HP:0040282	ORPHA:171881
7170	TPM3	HP:0000276	Long face	HP:0040283	ORPHA:2020
7170	TPM3	HP:0000276	Long face	-	OMIM:255310
7170	TPM3	HP:0000276	Long face	HP:0040283	ORPHA:171439
7170	TPM3	HP:0000276	Long face	-	OMIM:609284
7170	TPM3	HP:0006466	Ankle flexion contracture	HP:0040283	ORPHA:2020
7170	TPM3	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	ORPHA:171433
7170	TPM3	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	ORPHA:171439
7170	TPM3	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:2020
7170	TPM3	HP:0002878	Respiratory failure	HP:0040282	ORPHA:171433
7170	TPM3	HP:0002878	Respiratory failure	HP:0040283	ORPHA:2020
7170	TPM3	HP:0000218	High palate	-	OMIM:255310
7170	TPM3	HP:0000218	High palate	-	OMIM:609284
7170	TPM3	HP:0000218	High palate	HP:0040282	ORPHA:171881
7170	TPM3	HP:0000218	High palate	HP:0040282	ORPHA:2020
7170	TPM3	HP:0000218	High palate	HP:0040283	ORPHA:171439
7170	TPM3	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:171433
7170	TPM3	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:2020
7170	TPM3	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:171439
7170	TPM3	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:171433
7170	TPM3	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:2020
7170	TPM3	HP:0001558	Decreased fetal movement	-	OMIM:255310
7170	TPM3	HP:0001533	Slender build	HP:0040283	ORPHA:171439
7170	TPM3	HP:0001508	Failure to thrive	-	OMIM:255310
7170	TPM3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2020
7170	TPM3	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:171881
7170	TPM3	HP:0012378	Fatigue	HP:0040282	ORPHA:2020
7170	TPM3	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040283	ORPHA:171881
7170	TPM3	HP:0005216	Impaired mastication	HP:0040283	ORPHA:2020
7170	TPM3	HP:0001609	Hoarse voice	HP:0040283	ORPHA:2020
7170	TPM3	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:171881
7170	TPM3	HP:0002938	Lumbar hyperlordosis	-	OMIM:255310
7170	TPM3	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040283	ORPHA:171439
7170	TPM3	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:2020
7170	TPM3	HP:0002943	Thoracic scoliosis	HP:0040283	ORPHA:171881
7170	TPM3	HP:0001612	Weak cry	-	OMIM:255310
7170	TPM3	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:171881
7170	TPM3	HP:0000369	Low-set ears	HP:0040283	ORPHA:171433
7170	TPM3	HP:0000343	Long philtrum	HP:0040283	ORPHA:171433
7170	TPM3	HP:0000347	Micrognathia	HP:0040283	ORPHA:2020
7170	TPM3	HP:0000347	Micrognathia	HP:0040283	ORPHA:171439
7170	TPM3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:171433
7170	TPM3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:171439
7170	TPM3	HP:0001648	Cor pulmonale	HP:0040283	ORPHA:2020
7170	TPM3	HP:0001644	Dilated cardiomyopathy	-	OMIM:255310
7170	TPM3	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:2020
7170	TPM3	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2020
7170	TPM3	HP:0001623	Breech presentation	HP:0040283	ORPHA:171439
7170	TPM3	HP:0001622	Premature birth	HP:0040283	ORPHA:171433
7170	TPM3	HP:0001638	Cardiomyopathy	-	ORPHA:171433
7170	TPM3	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:171439
7170	TPM3	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:171881
7170	TPM3	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:2020
7170	TPM3	HP:0006673	Reduced systolic function	HP:0040283	ORPHA:171881
7170	TPM3	HP:0000467	Neck muscle weakness	-	OMIM:609284
7170	TPM3	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:171439
7170	TPM3	HP:0001763	Pes planus	HP:0040283	ORPHA:171881
7170	TPM3	HP:0012416	Hypercapnia	HP:0040283	ORPHA:2020
7170	TPM3	HP:0012418	Hypoxemia	HP:0040283	ORPHA:2020
7170	TPM3	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:2020
7170	TPM3	HP:0001761	Pes cavus	-	OMIM:609284
7170	TPM3	HP:0001761	Pes cavus	HP:0040283	ORPHA:2020
7170	TPM3	HP:0001761	Pes cavus	HP:0040283	ORPHA:171439
7170	TPM3	HP:0001824	Weight loss	HP:0040282	ORPHA:2020
7170	TPM3	HP:0000508	Ptosis	-	OMIM:255310
7170	TPM3	HP:0000508	Ptosis	HP:0040284	ORPHA:171439
7171	TPM4	HP:0000006	Autosomal dominant inheritance	-	OMIM:620486
7171	TPM4	HP:0006298	Prolonged bleeding after dental extraction	3/8	OMIM:620486
7171	TPM4	HP:0000132	Menorrhagia	5/6	OMIM:620486
7171	TPM4	HP:0011891	Post-partum hemorrhage	1/2	OMIM:620486
7171	TPM4	HP:0011877	Increased mean platelet volume	8/8	OMIM:620486
7171	TPM4	HP:0004866	Impaired ADP-induced platelet aggregation	2/3	OMIM:620486
7171	TPM4	HP:0008320	Impaired collagen-induced platelet aggregation	3/3	OMIM:620486
7171	TPM4	HP:0004846	Prolonged bleeding after surgery	1/5	OMIM:620486
7171	TPM4	HP:0011463	Childhood onset	3/3	OMIM:620486
7171	TPM4	HP:0004406	Spontaneous, recurrent epistaxis	2/3	OMIM:620486
7171	TPM4	HP:0000978	Bruising susceptibility	3/3	OMIM:620486
7171	TPM4	HP:0040185	Macrothrombocytopenia	4/5	OMIM:620486
7171	TPM4	HP:0030138	Excessive bleeding from superficial cuts	2/3	OMIM:620486
7171	TPM4	HP:0001873	Thrombocytopenia	4/8	OMIM:620486
7172	TPMT	HP:0000007	Autosomal recessive inheritance	-	OMIM:610460
7172	TPMT	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:610460
7172	TPMT	HP:0001871	Abnormality of blood and blood-forming tissues	-	OMIM:610460
7173	TPO	HP:0001254	Lethargy	HP:0040283	ORPHA:95716
7173	TPO	HP:0001252	Hypotonia	HP:0040283	ORPHA:95716
7173	TPO	HP:0001249	Intellectual disability	HP:0040283	ORPHA:95716
7173	TPO	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:95716
7173	TPO	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:95716
7173	TPO	HP:0008828	Delayed proximal femoral epiphyseal ossification	HP:0040282	ORPHA:95716
7173	TPO	HP:0000007	Autosomal recessive inheritance	-	OMIM:274500
7173	TPO	HP:0025483	Abnormal circulating thyroglobulin concentration	HP:0040283	ORPHA:95716
7173	TPO	HP:0025482	Positive perchlorate discharge test	HP:0040283	ORPHA:95716
7173	TPO	HP:0000158	Macroglossia	HP:0040283	ORPHA:95716
7173	TPO	HP:0031219	Reduced radioactive iodine uptake	HP:0040283	ORPHA:95716
7173	TPO	HP:0031220	Increased radioactive iodine uptake	HP:0040283	ORPHA:95716
7173	TPO	HP:0002019	Constipation	HP:0040282	ORPHA:95716
7173	TPO	HP:0002045	Hypothermia	HP:0040283	ORPHA:95716
7173	TPO	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:95716
7173	TPO	HP:0008263	Thyroid defect in oxidation and organification of iodide	HP:0040282	ORPHA:95716
7173	TPO	HP:0008263	Thyroid defect in oxidation and organification of iodide	1/1	OMIM:274500
7173	TPO	HP:0003593	Infantile onset	1/1	OMIM:274500
7173	TPO	HP:0011437	Maternal autoimmune disease	-	ORPHA:95716
7173	TPO	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:95716
7173	TPO	HP:0004491	Large posterior fontanelle	HP:0040282	ORPHA:95716
7173	TPO	HP:0000851	Congenital hypothyroidism	HP:0040282	ORPHA:95716
7173	TPO	HP:0000853	Goiter	1/1	OMIM:274500
7173	TPO	HP:0000853	Goiter	HP:0040282	ORPHA:95716
7173	TPO	HP:0000821	Hypothyroidism	1/1	OMIM:274500
7173	TPO	HP:0003265	Neonatal hyperbilirubinemia	HP:0040283	ORPHA:95716
7173	TPO	HP:0000282	Facial edema	HP:0040283	ORPHA:95716
7173	TPO	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:95716
7173	TPO	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:95716
7173	TPO	HP:0031507	Decreased circulating T4 concentration	HP:0040281	ORPHA:95716
7173	TPO	HP:0031507	Decreased circulating T4 concentration	1/1	OMIM:274500
7173	TPO	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:95716
7173	TPO	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	HP:0040281	ORPHA:95716
7173	TPO	HP:0001662	Bradycardia	HP:0040283	ORPHA:95716
7173	TPO	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:95716
7173	TPO	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:95716
7174	TPP2	HP:0032247	Persistent CMV viremia	2/4	OMIM:619220
7174	TPP2	HP:0001297	Stroke	HP:0040281	ORPHA:444463
7174	TPP2	HP:0001269	Hemiparesis	HP:0040282	ORPHA:444463
7174	TPP2	HP:0001263	Global developmental delay	4/4	OMIM:619220
7174	TPP2	HP:0003819	Death in childhood	1/2	OMIM:619220
7174	TPP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619220
7174	TPP2	HP:0012115	Hepatitis	HP:0040281	ORPHA:444463
7174	TPP2	HP:0410028	Recurrent oral herpes	1/4	OMIM:619220
7174	TPP2	HP:0006268	Fluctuating splenomegaly	1/2	OMIM:619220
7174	TPP2	HP:0002783	Recurrent lower respiratory tract infections	4/4	OMIM:619220
7174	TPP2	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:444463
7174	TPP2	HP:0002716	Lymphadenopathy	2/2	OMIM:619220
7174	TPP2	HP:0002725	Systemic lupus erythematosus	HP:0040281	ORPHA:444463
7174	TPP2	HP:0002110	Bronchiectasis	3/6	OMIM:619220
7174	TPP2	HP:0003496	Increased circulating IgM level	1/2	OMIM:619220
7174	TPP2	HP:0003593	Infantile onset	4/4	OMIM:619220
7174	TPP2	HP:0011947	Respiratory tract infection	HP:0040281	ORPHA:444463
7174	TPP2	HP:0001973	Autoimmune thrombocytopenia	HP:0040280	ORPHA:444463
7174	TPP2	HP:0001973	Autoimmune thrombocytopenia	5/6	OMIM:619220
7174	TPP2	HP:0001904	Autoimmune neutropenia	3/4	OMIM:619220
7174	TPP2	HP:0011343	Moderate global developmental delay	HP:0040281	ORPHA:444463
7174	TPP2	HP:0011342	Mild global developmental delay	1/2	OMIM:619220
7174	TPP2	HP:0011463	Childhood onset	2/2	OMIM:619220
7174	TPP2	HP:0003237	Increased circulating IgG concentration	2/2	OMIM:619220
7174	TPP2	HP:0040167	Facial papilloma	1/1	OMIM:619220
7174	TPP2	HP:0000265	Mastoiditis	1/4	OMIM:619220
7174	TPP2	HP:0002960	Autoimmunity	HP:0040282	ORPHA:444463
7174	TPP2	HP:0000403	Recurrent otitis media	HP:0040281	ORPHA:444463
7174	TPP2	HP:0000403	Recurrent otitis media	4/4	OMIM:619220
7174	TPP2	HP:0001744	Splenomegaly	HP:0040282	ORPHA:444463
7174	TPP2	HP:0001890	Autoimmune hemolytic anemia	HP:0040281	ORPHA:444463
7174	TPP2	HP:0001890	Autoimmune hemolytic anemia	5/6	OMIM:619220
7174	TPP2	HP:0001888	Decreased total lymphocyte count	HP:0040281	ORPHA:444463
7174	TPP2	HP:0001878	Hemolytic anemia	HP:0040282	ORPHA:444463
7175	TPR	HP:0010864	Intellectual disability, severe	2/2	OMIM:620393
7175	TPR	HP:0100807	Long fingers	1/2	OMIM:620393
7175	TPR	HP:0001252	Hypotonia	1/2	OMIM:620393
7175	TPR	HP:0001263	Global developmental delay	2/2	OMIM:620393
7175	TPR	HP:0001238	Slender finger	2/2	OMIM:620393
7175	TPR	HP:0000007	Autosomal recessive inheritance	-	OMIM:620393
7175	TPR	HP:0002080	Intention tremor	1/2	OMIM:620393
7175	TPR	HP:0002066	Gait ataxia	1/2	OMIM:620393
7175	TPR	HP:0002136	Broad-based gait	1/2	OMIM:620393
7175	TPR	HP:0002188	Delayed CNS myelination	1/1	OMIM:620393
7175	TPR	HP:0003593	Infantile onset	2/2	OMIM:620393
7175	TPR	HP:0100703	Tongue thrusting	1/2	OMIM:620393
7175	TPR	HP:0011968	Feeding difficulties	2/2	OMIM:620393
7175	TPR	HP:0002311	Incoordination	1/2	OMIM:620393
7175	TPR	HP:0004209	Clinodactyly of the 5th finger	1/2	OMIM:620393
7175	TPR	HP:0010109	Short hallux	1/2	OMIM:620393
7175	TPR	HP:0000876	Oligomenorrhea	1/2	OMIM:620393
7175	TPR	HP:0000964	Eczematoid dermatitis	1/2	OMIM:620393
7175	TPR	HP:0000219	Thin upper lip vermilion	1/2	OMIM:620393
7175	TPR	HP:0000319	Smooth philtrum	1/2	OMIM:620393
7175	TPR	HP:0001629	Ventricular septal defect	1/2	OMIM:620393
7175	TPR	HP:0000490	Deeply set eye	2/2	OMIM:620393
7175	TPR	HP:0000455	Broad nasal tip	2/2	OMIM:620393
7175	TPR	HP:0001763	Pes planus	1/2	OMIM:620393
7175	TPR	HP:0000431	Wide nasal bridge	1/2	OMIM:620393
7187	TRAF3	HP:0025143	Chills	HP:0040283	ORPHA:1930
7187	TRAF3	HP:0001250	Seizure	HP:0040282	ORPHA:1930
7187	TRAF3	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:1930
7187	TRAF3	HP:0001259	Coma	HP:0040283	ORPHA:1930
7187	TRAF3	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:1930
7187	TRAF3	HP:0031179	Nuchal rigidity	HP:0040282	ORPHA:1930
7187	TRAF3	HP:0000006	Autosomal dominant inheritance	-	OMIM:614849
7187	TRAF3	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:1930
7187	TRAF3	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:1930
7187	TRAF3	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:1930
7187	TRAF3	HP:0002133	Status epilepticus	HP:0040283	ORPHA:1930
7187	TRAF3	HP:0002181	Cerebral edema	HP:0040283	ORPHA:1930
7187	TRAF3	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:1930
7187	TRAF3	HP:0011897	Increased total neutrophil count	HP:0040282	ORPHA:1930
7187	TRAF3	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040282	ORPHA:1930
7187	TRAF3	HP:0200149	CSF lymphocytic pleiocytosis	HP:0040281	ORPHA:1930
7187	TRAF3	HP:0011972	Hypoglycorrhachia	HP:0040283	ORPHA:1930
7187	TRAF3	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:1930
7187	TRAF3	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1930
7187	TRAF3	HP:0002349	Focal aware seizure	HP:0040283	ORPHA:1930
7187	TRAF3	HP:0002315	Headache	HP:0040282	ORPHA:1930
7187	TRAF3	HP:0007185	Loss of consciousness	HP:0040282	ORPHA:1930
7187	TRAF3	HP:0006846	Acute encephalopathy	1/1	OMIM:614849
7187	TRAF3	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:1930
7187	TRAF3	HP:0001945	Fever	HP:0040282	ORPHA:1930
7187	TRAF3	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:1930
7187	TRAF3	HP:0004372	Reduced consciousness	HP:0040281	ORPHA:1930
7187	TRAF3	HP:0011463	Childhood onset	1/1	OMIM:614849
7187	TRAF3	HP:0012378	Fatigue	HP:0040282	ORPHA:1930
7187	TRAF3	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:1930
7187	TRAF3	HP:0002902	Hyponatremia	HP:0040282	ORPHA:1930
7187	TRAF3	HP:0012302	Herpes simplex encephalitis	1/1	OMIM:614849
7187	TRAF3	HP:0012443	Abnormal brain morphology	HP:0040281	ORPHA:1930
7187	TRAF3	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040283	ORPHA:1930
7189	TRAF6	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:1810
7189	TRAF6	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:1810
7189	TRAF6	HP:0006323	Premature loss of primary teeth	HP:0040281	ORPHA:1810
7189	TRAF6	HP:0002047	Malignant hyperthermia	HP:0040283	ORPHA:1810
7189	TRAF6	HP:0002231	Sparse body hair	HP:0040281	ORPHA:1810
7189	TRAF6	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:1810
7189	TRAF6	HP:0000668	Hypodontia	HP:0040281	ORPHA:1810
7189	TRAF6	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:1810
7189	TRAF6	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:1810
7189	TRAF6	HP:0000963	Thin skin	HP:0040281	ORPHA:1810
7189	TRAF6	HP:0008070	Sparse hair	HP:0040281	ORPHA:1810
7189	TRAF6	HP:0006482	Abnormal dental morphology	HP:0040281	ORPHA:1810
7189	TRAF6	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:1810
7189	TRAF6	HP:0000457	Depressed nasal ridge	HP:0040283	ORPHA:1810
7189	TRAF6	HP:0011220	Prominent forehead	HP:0040283	ORPHA:1810
7200	TRH	HP:0001249	Intellectual disability	-	OMIM:275120
7200	TRH	HP:0001324	Muscle weakness	-	OMIM:275120
7200	TRH	HP:0000007	Autosomal recessive inheritance	-	OMIM:275120
7200	TRH	HP:0002750	Delayed skeletal maturation	-	OMIM:275120
7200	TRH	HP:0002019	Constipation	-	OMIM:275120
7200	TRH	HP:0008237	Hypothalamic hypothyroidism	-	OMIM:275120
7200	TRH	HP:0004322	Short stature	-	OMIM:275120
7200	TRH	HP:0000821	Hypothyroidism	-	OMIM:275120
7200	TRH	HP:0000958	Dry skin	-	OMIM:275120
7200	TRH	HP:0001609	Hoarse voice	-	OMIM:275120
7201	TRHR	HP:0032210	Decreased circulating free T3	HP:0040282	ORPHA:99832
7201	TRHR	HP:0001254	Lethargy	HP:0040282	ORPHA:99832
7201	TRHR	HP:0001254	Lethargy	-	OMIM:618573
7201	TRHR	HP:0000007	Autosomal recessive inheritance	-	OMIM:618573
7201	TRHR	HP:0025483	Abnormal circulating thyroglobulin concentration	HP:0040282	ORPHA:99832
7201	TRHR	HP:0031219	Reduced radioactive iodine uptake	HP:0040282	ORPHA:99832
7201	TRHR	HP:0002750	Delayed skeletal maturation	-	OMIM:618573
7201	TRHR	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:99832
7201	TRHR	HP:0005990	Thyroid hypoplasia	HP:0040282	ORPHA:99832
7201	TRHR	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:99832
7201	TRHR	HP:0008202	Reduced circulating prolactin concentration	HP:0040282	ORPHA:99832
7201	TRHR	HP:0004322	Short stature	-	OMIM:618573
7201	TRHR	HP:0000716	Depression	HP:0040282	ORPHA:99832
7201	TRHR	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:99832
7201	TRHR	HP:0011437	Maternal autoimmune disease	-	ORPHA:99832
7201	TRHR	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:99832
7201	TRHR	HP:0000853	Goiter	-	ORPHA:99832
7201	TRHR	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:99832
7201	TRHR	HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test	-	OMIM:618573
7201	TRHR	HP:0000958	Dry skin	HP:0040282	ORPHA:99832
7201	TRHR	HP:0030057	Autoimmune antibody positivity	-	ORPHA:99832
7201	TRHR	HP:0025502	Overweight	HP:0040282	ORPHA:99832
7201	TRHR	HP:0001510	Growth delay	-	OMIM:618573
7201	TRHR	HP:0001510	Growth delay	HP:0040282	ORPHA:99832
7201	TRHR	HP:0031507	Decreased circulating T4 concentration	-	OMIM:618573
7201	TRHR	HP:0031507	Decreased circulating T4 concentration	HP:0040282	ORPHA:99832
7201	TRHR	HP:0012378	Fatigue	HP:0040282	ORPHA:99832
7201	TRHR	HP:0012378	Fatigue	-	OMIM:618573
7201	TRHR	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:99832
7201	TRHR	HP:0001609	Hoarse voice	HP:0040282	ORPHA:99832
7201	TRHR	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	-	ORPHA:99832
7204	TRIO	HP:0001182	Tapered finger	2/8	OMIM:618825
7204	TRIO	HP:0001182	Tapered finger	9/19	OMIM:617061
7204	TRIO	HP:0001182	Tapered finger	HP:0040282	ORPHA:476126
7204	TRIO	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:476126
7204	TRIO	HP:0001156	Brachydactyly	1/4	OMIM:617061
7204	TRIO	HP:0002465	Poor speech	-	OMIM:617061
7204	TRIO	HP:0002465	Poor speech	HP:0040281	ORPHA:476126
7204	TRIO	HP:0001270	Motor delay	4/4	OMIM:617061
7204	TRIO	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:476126
7204	TRIO	HP:0001250	Seizure	2/12	OMIM:617061
7204	TRIO	HP:0001250	Seizure	HP:0040283	ORPHA:476126
7204	TRIO	HP:0001250	Seizure	3/9	OMIM:618825
7204	TRIO	HP:0001252	Hypotonia	1/4	OMIM:617061
7204	TRIO	HP:0001249	Intellectual disability	19/19	OMIM:617061
7204	TRIO	HP:0001249	Intellectual disability	9/9	OMIM:618825
7204	TRIO	HP:0001263	Global developmental delay	HP:0040281	ORPHA:476126
7204	TRIO	HP:0001263	Global developmental delay	-	OMIM:618825
7204	TRIO	HP:0008770	Obsessive-compulsive trait	4/8	OMIM:618825
7204	TRIO	HP:0002553	Highly arched eyebrow	2/7	OMIM:618825
7204	TRIO	HP:0025336	Delayed ability to sit	2/9	OMIM:618825
7204	TRIO	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:476126
7204	TRIO	HP:0001347	Hyperreflexia	2/4	OMIM:617061
7204	TRIO	HP:0008872	Feeding difficulties in infancy	5/8	OMIM:618825
7204	TRIO	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:476126
7204	TRIO	HP:0001328	Specific learning disability	HP:0040283	ORPHA:476126
7204	TRIO	HP:0001344	Absent speech	HP:0040283	ORPHA:476126
7204	TRIO	HP:0001337	Tremor	1/4	OMIM:617061
7204	TRIO	HP:0001337	Tremor	HP:0040283	ORPHA:476126
7204	TRIO	HP:0000006	Autosomal dominant inheritance	-	OMIM:617061
7204	TRIO	HP:0000006	Autosomal dominant inheritance	-	OMIM:618825
7204	TRIO	HP:0002650	Scoliosis	4/15	OMIM:617061
7204	TRIO	HP:0002650	Scoliosis	4/8	OMIM:618825
7204	TRIO	HP:0002650	Scoliosis	HP:0040282	ORPHA:476126
7204	TRIO	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:476126
7204	TRIO	HP:0000154	Wide mouth	2/7	OMIM:618825
7204	TRIO	HP:0002719	Recurrent infections	3/3	OMIM:617061
7204	TRIO	HP:0002719	Recurrent infections	HP:0040282	ORPHA:476126
7204	TRIO	HP:0002033	Poor suck	HP:0040283	ORPHA:476126
7204	TRIO	HP:0004691	2-3 toe syndactyly	1/15	OMIM:617061
7204	TRIO	HP:0004691	2-3 toe syndactyly	HP:0040282	ORPHA:476126
7204	TRIO	HP:0002015	Dysphagia	2/3	OMIM:617061
7204	TRIO	HP:0002007	Frontal bossing	5/7	OMIM:618825
7204	TRIO	HP:0011800	Midface retrusion	1/14	OMIM:617061
7204	TRIO	HP:0002066	Gait ataxia	HP:0040283	ORPHA:476126
7204	TRIO	HP:0011908	Unilateral radial aplasia	HP:0040283	ORPHA:476126
7204	TRIO	HP:0003593	Infantile onset	15/15	OMIM:617061
7204	TRIO	HP:0003593	Infantile onset	9/9	OMIM:618825
7204	TRIO	HP:0002236	Frontal upsweep of hair	1/14	OMIM:617061
7204	TRIO	HP:0100716	Self-injurious behavior	1/4	OMIM:617061
7204	TRIO	HP:0007021	Pain insensitivity	1/8	OMIM:618825
7204	TRIO	HP:0007021	Pain insensitivity	2/10	OMIM:617061
7204	TRIO	HP:0007018	Attention deficit hyperactivity disorder	4/9	OMIM:618825
7204	TRIO	HP:0007018	Attention deficit hyperactivity disorder	11/17	OMIM:617061
7204	TRIO	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:476126
7204	TRIO	HP:0011968	Feeding difficulties	10/16	OMIM:617061
7204	TRIO	HP:0009659	Partial absence of thumb	HP:0040283	ORPHA:476126
7204	TRIO	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:476126
7204	TRIO	HP:0003691	Scapular winging	1/4	OMIM:617061
7204	TRIO	HP:0001007	Hirsutism	1/14	OMIM:617061
7204	TRIO	HP:0200006	Slanting of the palpebral fissure	HP:0040283	ORPHA:476126
7204	TRIO	HP:0010780	Hyperacusis	1/4	OMIM:617061
7204	TRIO	HP:0009765	Low hanging columella	2/7	OMIM:618825
7204	TRIO	HP:0004209	Clinodactyly of the 5th finger	1/4	OMIM:617061
7204	TRIO	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:476126
7204	TRIO	HP:0004279	Short palm	HP:0040283	ORPHA:476126
7204	TRIO	HP:0006889	Intellectual disability, borderline	HP:0040283	ORPHA:476126
7204	TRIO	HP:0000646	Amblyopia	HP:0040283	ORPHA:476126
7204	TRIO	HP:0000629	Periorbital fullness	2/4	OMIM:617061
7204	TRIO	HP:0010035	Aplasia of the 1st metacarpal	HP:0040283	ORPHA:476126
7204	TRIO	HP:0000684	Delayed eruption of teeth	0/8	OMIM:618825
7204	TRIO	HP:0000678	Dental crowding	1/8	OMIM:618825
7204	TRIO	HP:0000678	Dental crowding	3/4	OMIM:617061
7204	TRIO	HP:0000678	Dental crowding	HP:0040282	ORPHA:476126
7204	TRIO	HP:0000677	Oligodontia	1/15	OMIM:617061
7204	TRIO	HP:0000664	Synophrys	4/14	OMIM:617061
7204	TRIO	HP:0000664	Synophrys	HP:0040282	ORPHA:476126
7204	TRIO	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:476126
7204	TRIO	HP:0031936	Delayed ability to walk	9/9	OMIM:618825
7204	TRIO	HP:0031936	Delayed ability to walk	5/11	OMIM:617061
7204	TRIO	HP:0000767	Pectus excavatum	1/4	OMIM:617061
7204	TRIO	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:476126
7204	TRIO	HP:0000733	Motor stereotypy	4/9	OMIM:618825
7204	TRIO	HP:0000733	Motor stereotypy	2/13	OMIM:617061
7204	TRIO	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:476126
7204	TRIO	HP:0000750	Delayed speech and language development	14/14	OMIM:617061
7204	TRIO	HP:0000750	Delayed speech and language development	9/9	OMIM:618825
7204	TRIO	HP:0000742	Self-mutilation	HP:0040283	ORPHA:476126
7204	TRIO	HP:0000718	Aggressive behavior	3/9	OMIM:618825
7204	TRIO	HP:0000718	Aggressive behavior	5/13	OMIM:617061
7204	TRIO	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:476126
7204	TRIO	HP:0000729	Autistic behavior	2/4	OMIM:617061
7204	TRIO	HP:0000729	Autistic behavior	HP:0040282	ORPHA:476126
7204	TRIO	HP:0000722	Compulsive behaviors	3/12	OMIM:617061
7204	TRIO	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:476126
7204	TRIO	HP:0000708	Atypical behavior	HP:0040282	ORPHA:476126
7204	TRIO	HP:0000706	Eruption failure	HP:0040283	ORPHA:476126
7204	TRIO	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:476126
7204	TRIO	HP:0011463	Childhood onset	4/4	OMIM:617061
7204	TRIO	HP:0011451	Primary microcephaly	HP:0040282	ORPHA:476126
7204	TRIO	HP:0003196	Short nose	1/14	OMIM:617061
7204	TRIO	HP:0003196	Short nose	HP:0040283	ORPHA:476126
7204	TRIO	HP:0000954	Single transverse palmar crease	1/4	OMIM:617061
7204	TRIO	HP:0000286	Epicanthus	1/14	OMIM:617061
7204	TRIO	HP:0000286	Epicanthus	HP:0040283	ORPHA:476126
7204	TRIO	HP:0000278	Retrognathia	2/14	OMIM:617061
7204	TRIO	HP:0000294	Low anterior hairline	2/14	OMIM:617061
7204	TRIO	HP:0000256	Macrocephaly	7/9	OMIM:618825
7204	TRIO	HP:0002808	Kyphosis	2/4	OMIM:617061
7204	TRIO	HP:0002808	Kyphosis	HP:0040283	ORPHA:476126
7204	TRIO	HP:0000252	Microcephaly	13/19	OMIM:617061
7204	TRIO	HP:0000219	Thin upper lip vermilion	1/14	OMIM:617061
7204	TRIO	HP:0000218	High palate	3/17	OMIM:617061
7204	TRIO	HP:0000218	High palate	1/7	OMIM:618825
7204	TRIO	HP:0000218	High palate	HP:0040283	ORPHA:476126
7204	TRIO	HP:0001508	Failure to thrive	HP:0040283	ORPHA:476126
7204	TRIO	HP:0012378	Fatigue	3/4	OMIM:617061
7204	TRIO	HP:0000396	Overfolded helix	1/14	OMIM:617061
7204	TRIO	HP:0001674	Complete atrioventricular canal defect	HP:0040283	ORPHA:476126
7204	TRIO	HP:0000343	Long philtrum	2/18	OMIM:617061
7204	TRIO	HP:0000343	Long philtrum	1/7	OMIM:618825
7204	TRIO	HP:0000343	Long philtrum	HP:0040283	ORPHA:476126
7204	TRIO	HP:0000348	High forehead	3/4	OMIM:617061
7204	TRIO	HP:0000348	High forehead	HP:0040282	ORPHA:476126
7204	TRIO	HP:0000347	Micrognathia	5/18	OMIM:617061
7204	TRIO	HP:0000347	Micrognathia	HP:0040282	ORPHA:476126
7204	TRIO	HP:0000316	Hypertelorism	1/14	OMIM:617061
7204	TRIO	HP:0000316	Hypertelorism	1/7	OMIM:618825
7204	TRIO	HP:0001643	Patent ductus arteriosus	1/4	OMIM:617061
7204	TRIO	HP:0000331	Short chin	1/7	OMIM:618825
7204	TRIO	HP:0000331	Short chin	1/14	OMIM:617061
7204	TRIO	HP:0000322	Short philtrum	1/4	OMIM:617061
7204	TRIO	HP:0000324	Facial asymmetry	4/18	OMIM:617061
7204	TRIO	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:476126
7204	TRIO	HP:0001629	Ventricular septal defect	1/4	OMIM:617061
7204	TRIO	HP:0001631	Atrial septal defect	1/14	OMIM:617061
7204	TRIO	HP:0007970	Congenital ptosis	HP:0040283	ORPHA:476126
7204	TRIO	HP:0000400	Macrotia	1/4	OMIM:617061
7204	TRIO	HP:0005280	Depressed nasal bridge	1/14	OMIM:617061
7204	TRIO	HP:0000486	Strabismus	HP:0040283	ORPHA:476126
7204	TRIO	HP:0012471	Thick vermilion border	2/4	OMIM:617061
7204	TRIO	HP:0000494	Downslanted palpebral fissures	1/4	OMIM:617061
7204	TRIO	HP:0000494	Downslanted palpebral fissures	1/7	OMIM:618825
7204	TRIO	HP:0000463	Anteverted nares	1/7	OMIM:618825
7204	TRIO	HP:0012450	Chronic constipation	2/9	OMIM:618825
7204	TRIO	HP:0012450	Chronic constipation	7/16	OMIM:617061
7204	TRIO	HP:0012450	Chronic constipation	HP:0040283	ORPHA:476126
7204	TRIO	HP:0001763	Pes planus	HP:0040283	ORPHA:476126
7204	TRIO	HP:0000414	Bulbous nose	1/14	OMIM:617061
7204	TRIO	HP:0000431	Wide nasal bridge	1/14	OMIM:617061
7204	TRIO	HP:0000430	Underdeveloped nasal alae	1/7	OMIM:618825
7204	TRIO	HP:0000426	Prominent nasal bridge	1/7	OMIM:618825
7204	TRIO	HP:0005484	Secondary microcephaly	HP:0040283	ORPHA:476126
7204	TRIO	HP:0001852	Sandal gap	1/4	OMIM:617061
7204	TRIO	HP:0000508	Ptosis	1/14	OMIM:617061
7204	TRIO	HP:0000582	Upslanted palpebral fissure	2/14	OMIM:617061
7204	TRIO	HP:0000574	Thick eyebrow	1/4	OMIM:617061
7222	TRPC3	HP:0001272	Cerebellar atrophy	-	OMIM:616410
7222	TRPC3	HP:0001251	Ataxia	-	OMIM:616410
7222	TRPC3	HP:0000006	Autosomal dominant inheritance	-	OMIM:616410
7222	TRPC3	HP:0002066	Gait ataxia	HP:0040282	ORPHA:458798
7222	TRPC3	HP:0002066	Gait ataxia	1/1	OMIM:616410
7222	TRPC3	HP:0002172	Postural instability	1/1	OMIM:616410
7222	TRPC3	HP:0002172	Postural instability	HP:0040282	ORPHA:458798
7222	TRPC3	HP:0003581	Adult onset	1/1	OMIM:616410
7222	TRPC3	HP:0003676	Progressive	-	OMIM:616410
7222	TRPC3	HP:0002317	Unsteady gait	1/1	OMIM:616410
7222	TRPC3	HP:0006855	Cerebellar vermis atrophy	1/1	OMIM:616410
7222	TRPC3	HP:0006855	Cerebellar vermis atrophy	HP:0040282	ORPHA:458798
7225	TRPC6	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
7225	TRPC6	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:603965
7225	TRPC6	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
7225	TRPC6	HP:0000097	Focal segmental glomerulosclerosis	-	OMIM:603965
7225	TRPC6	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
7225	TRPC6	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
7225	TRPC6	HP:0000093	Proteinuria	-	OMIM:603965
7225	TRPC6	HP:0000006	Autosomal dominant inheritance	-	OMIM:603965
7225	TRPC6	HP:0000100	Nephrotic syndrome	-	OMIM:603965
7225	TRPC6	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
7225	TRPC6	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
7225	TRPC6	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
7225	TRPC6	HP:0002315	Headache	HP:0040283	ORPHA:656
7225	TRPC6	HP:0012622	Chronic kidney disease	-	OMIM:603965
7225	TRPC6	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
7225	TRPC6	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
7225	TRPC6	HP:0001945	Fever	HP:0040283	ORPHA:656
7225	TRPC6	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
7225	TRPC6	HP:0000737	Irritability	HP:0040283	ORPHA:656
7225	TRPC6	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
7225	TRPC6	HP:0011462	Young adult onset	-	OMIM:603965
7225	TRPC6	HP:0000822	Hypertension	-	OMIM:603965
7225	TRPC6	HP:0000969	Edema	HP:0040281	ORPHA:656
7225	TRPC6	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
7225	TRPC6	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
7227	TRPS1	HP:0001156	Brachydactyly	3/3	OMIM:190350
7227	TRPS1	HP:0001156	Brachydactyly	2/2	OMIM:190351
7227	TRPS1	HP:0001156	Brachydactyly	HP:0040283	ORPHA:502
7227	TRPS1	HP:0009928	Thick nasal alae	HP:0040283	ORPHA:502
7227	TRPS1	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:77258
7227	TRPS1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7227	TRPS1	HP:0001293	Cranial nerve compression	-	OMIM:131300
7227	TRPS1	HP:0001290	Generalized hypotonia	-	OMIM:190350
7227	TRPS1	HP:0001252	Hypotonia	HP:0040282	ORPHA:77258
7227	TRPS1	HP:0001252	Hypotonia	HP:0040283	ORPHA:502
7227	TRPS1	HP:0001252	Hypotonia	2/7	OMIM:615777
7227	TRPS1	HP:0001249	Intellectual disability	0/3	OMIM:190350
7227	TRPS1	HP:0001249	Intellectual disability	0/2	OMIM:190351
7227	TRPS1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:502
7227	TRPS1	HP:0001249	Intellectual disability	5/7	OMIM:615777
7227	TRPS1	HP:0001263	Global developmental delay	-	OMIM:615777
7227	TRPS1	HP:0002515	Waddling gait	54/102	OMIM:131300
7227	TRPS1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:502
7227	TRPS1	HP:0001373	Joint dislocation	HP:0040282	ORPHA:502
7227	TRPS1	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:502
7227	TRPS1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:502
7227	TRPS1	HP:0001382	Joint hypermobility	-	OMIM:615777
7227	TRPS1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7227	TRPS1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7227	TRPS1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7227	TRPS1	HP:0001324	Muscle weakness	40/96	OMIM:131300
7227	TRPS1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:502
7227	TRPS1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7227	TRPS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7227	TRPS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:190350
7227	TRPS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:190351
7227	TRPS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7227	TRPS1	HP:0002653	Bone pain	HP:0040281	ORPHA:502
7227	TRPS1	HP:0002650	Scoliosis	-	OMIM:190350
7227	TRPS1	HP:0002650	Scoliosis	-	OMIM:190351
7227	TRPS1	HP:0002650	Scoliosis	HP:0040282	ORPHA:77258
7227	TRPS1	HP:0002650	Scoliosis	12/14	OMIM:131300
7227	TRPS1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7227	TRPS1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7227	TRPS1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7227	TRPS1	HP:0000189	Narrow palate	-	OMIM:190350
7227	TRPS1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7227	TRPS1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:77258
7227	TRPS1	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:502
7227	TRPS1	HP:0000175	Cleft palate	2/7	OMIM:615777
7227	TRPS1	HP:0000174	Abnormal palate morphology	HP:0040283	ORPHA:502
7227	TRPS1	HP:0008947	Floppy infant	-	OMIM:190350
7227	TRPS1	HP:0007598	Bilateral single transverse palmar creases	HP:0040283	ORPHA:502
7227	TRPS1	HP:0006253	Swelling of proximal interphalangeal joints	-	OMIM:190350
7227	TRPS1	HP:0002758	Osteoarthritis	-	OMIM:190350
7227	TRPS1	HP:0002750	Delayed skeletal maturation	-	OMIM:190350
7227	TRPS1	HP:0002750	Delayed skeletal maturation	-	OMIM:190351
7227	TRPS1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:502
7227	TRPS1	HP:0002002	Deep philtrum	HP:0040281	ORPHA:502
7227	TRPS1	HP:0002002	Deep philtrum	-	OMIM:190350
7227	TRPS1	HP:0002007	Frontal bossing	HP:0040281	ORPHA:77258
7227	TRPS1	HP:0003307	Hyperlordosis	-	OMIM:190350
7227	TRPS1	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:77258
7227	TRPS1	HP:0100529	Abnormal blood phosphate concentration	0/2	OMIM:190350
7227	TRPS1	HP:0003370	Flat capital femoral epiphysis	-	OMIM:190350
7227	TRPS1	HP:0003388	Easy fatigability	36/76	OMIM:131300
7227	TRPS1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7227	TRPS1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:502
7227	TRPS1	HP:0011910	Shortening of all phalanges of fingers	HP:0040281	ORPHA:77258
7227	TRPS1	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:77258
7227	TRPS1	HP:0011823	Chin with horizontal crease	-	OMIM:190350
7227	TRPS1	HP:0010579	Cone-shaped epiphysis	HP:0040281	ORPHA:77258
7227	TRPS1	HP:0003577	Congenital onset	2/2	OMIM:190351
7227	TRPS1	HP:0002217	Slow-growing hair	-	OMIM:190350
7227	TRPS1	HP:0002213	Fine hair	-	OMIM:190350
7227	TRPS1	HP:0002213	Fine hair	2/2	OMIM:190351
7227	TRPS1	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:502
7227	TRPS1	HP:0002209	Sparse scalp hair	3/3	OMIM:190350
7227	TRPS1	HP:0002205	Recurrent respiratory infections	-	OMIM:190350
7227	TRPS1	HP:0100777	Exostoses	HP:0040281	ORPHA:502
7227	TRPS1	HP:0003510	Severe short stature	7/7	OMIM:615777
7227	TRPS1	HP:0003691	Scapular winging	-	OMIM:190350
7227	TRPS1	HP:0002315	Headache	-	OMIM:131300
7227	TRPS1	HP:0004976	Knee dislocation	6/7	OMIM:615777
7227	TRPS1	HP:0009803	Short phalanx of finger	-	OMIM:615777
7227	TRPS1	HP:0009803	Short phalanx of finger	-	OMIM:190351
7227	TRPS1	HP:0010743	Short metatarsal	-	OMIM:190350
7227	TRPS1	HP:0010743	Short metatarsal	-	OMIM:190351
7227	TRPS1	HP:0010743	Short metatarsal	HP:0040281	ORPHA:77258
7227	TRPS1	HP:0009763	Limb pain	63/92	OMIM:131300
7227	TRPS1	HP:0003621	Juvenile onset	-	OMIM:131300
7227	TRPS1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7227	TRPS1	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:77258
7227	TRPS1	HP:0004279	Short palm	-	OMIM:190351
7227	TRPS1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7227	TRPS1	HP:6001056	Out-toeing	-	OMIM:131300
7227	TRPS1	HP:0000651	Diplopia	-	OMIM:131300
7227	TRPS1	HP:0001956	Truncal obesity	2/7	OMIM:615777
7227	TRPS1	HP:0001903	Anemia	HP:0040283	OMIM:131300
7227	TRPS1	HP:0010049	Short metacarpal	-	OMIM:615777
7227	TRPS1	HP:0010049	Short metacarpal	-	OMIM:190350
7227	TRPS1	HP:0010049	Short metacarpal	-	OMIM:190351
7227	TRPS1	HP:0010049	Short metacarpal	HP:0040281	ORPHA:77258
7227	TRPS1	HP:0000684	Delayed eruption of teeth	-	OMIM:190350
7227	TRPS1	HP:0011341	Long upper lip	HP:0040281	ORPHA:77258
7227	TRPS1	HP:0000678	Dental crowding	-	OMIM:615777
7227	TRPS1	HP:0000678	Dental crowding	-	OMIM:190351
7227	TRPS1	HP:0000691	Microdontia	-	OMIM:190350
7227	TRPS1	HP:0000689	Dental malocclusion	-	OMIM:190350
7227	TRPS1	HP:0000653	Sparse eyelashes	HP:0040281	ORPHA:77258
7227	TRPS1	HP:0000670	Carious teeth	-	OMIM:131300
7227	TRPS1	HP:0000670	Carious teeth	-	OMIM:190350
7227	TRPS1	HP:0011304	Broad thumb	2/7	OMIM:615777
7227	TRPS1	HP:0000668	Hypodontia	-	OMIM:615777
7227	TRPS1	HP:0000664	Synophrys	-	OMIM:615777
7227	TRPS1	HP:0004322	Short stature	HP:0040281	ORPHA:77258
7227	TRPS1	HP:0004322	Short stature	3/3	OMIM:190350
7227	TRPS1	HP:0004322	Short stature	2/2	OMIM:190351
7227	TRPS1	HP:0004322	Short stature	HP:0040281	ORPHA:502
7227	TRPS1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:502
7227	TRPS1	HP:0004396	Poor appetite	-	OMIM:131300
7227	TRPS1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7227	TRPS1	HP:0004363	Abnormal circulating calcium concentration	0/2	OMIM:190350
7227	TRPS1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7227	TRPS1	HP:0004379	Abnormality of alkaline phosphatase level	0/2	OMIM:190350
7227	TRPS1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7227	TRPS1	HP:0003026	Short long bone	7/7	OMIM:615777
7227	TRPS1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7227	TRPS1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7227	TRPS1	HP:0000768	Pectus carinatum	-	OMIM:190350
7227	TRPS1	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:77258
7227	TRPS1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7227	TRPS1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7227	TRPS1	HP:0000750	Delayed speech and language development	-	OMIM:615777
7227	TRPS1	HP:0011461	Fetal onset	7/7	OMIM:615777
7227	TRPS1	HP:0000774	Narrow chest	2/7	OMIM:615777
7227	TRPS1	HP:0009118	Aplasia/Hypoplasia of the mandible	HP:0040282	ORPHA:502
7227	TRPS1	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040283	ORPHA:502
7227	TRPS1	HP:0005743	Avascular necrosis of the capital femoral epiphysis	-	OMIM:190350
7227	TRPS1	HP:0005743	Avascular necrosis of the capital femoral epiphysis	-	OMIM:190351
7227	TRPS1	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040282	ORPHA:77258
7227	TRPS1	HP:0000926	Platyspondyly	1/7	OMIM:615777
7227	TRPS1	HP:0003180	Flat acetabular roof	-	OMIM:615777
7227	TRPS1	HP:0004482	Relative macrocephaly	-	OMIM:615777
7227	TRPS1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7227	TRPS1	HP:0000823	Delayed puberty	-	OMIM:131300
7227	TRPS1	HP:0010270	Cone-shaped epiphyses of the proximal phalanges of the hand	-	OMIM:190350
7227	TRPS1	HP:0010259	Cone-shaped epiphyses of the middle phalanges of the hand	-	OMIM:190350
7227	TRPS1	HP:0010259	Cone-shaped epiphyses of the middle phalanges of the hand	-	OMIM:190351
7227	TRPS1	HP:0010252	Ivory epiphyses of the distal phalanges of the hand	-	OMIM:190350
7227	TRPS1	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	HP:0040281	ORPHA:502
7227	TRPS1	HP:0000894	Short clavicles	-	OMIM:615777
7227	TRPS1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7227	TRPS1	HP:0003279	Coxa magna	-	OMIM:190350
7227	TRPS1	HP:0003279	Coxa magna	-	OMIM:190351
7227	TRPS1	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:77258
7227	TRPS1	HP:0045074	Thin eyebrow	-	OMIM:190350
7227	TRPS1	HP:0010300	Abnormally low-pitched voice	-	OMIM:190350
7227	TRPS1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7227	TRPS1	HP:0000962	Hyperkeratosis	2/2	OMIM:190351
7227	TRPS1	HP:0000938	Osteopenia	-	OMIM:190350
7227	TRPS1	HP:0000938	Osteopenia	-	OMIM:190351
7227	TRPS1	HP:0008070	Sparse hair	2/2	OMIM:190351
7227	TRPS1	HP:0008070	Sparse hair	HP:0040281	ORPHA:77258
7227	TRPS1	HP:0009381	Short finger	-	OMIM:190351
7227	TRPS1	HP:0000286	Epicanthus	1/7	OMIM:615777
7227	TRPS1	HP:0000280	Coarse facial features	2/7	OMIM:615777
7227	TRPS1	HP:0001598	Concave nail	-	OMIM:190350
7227	TRPS1	HP:0002829	Arthralgia	-	OMIM:190350
7227	TRPS1	HP:0002827	Hip dislocation	3/7	OMIM:615777
7227	TRPS1	HP:0030084	Clinodactyly	1/2	OMIM:190350
7227	TRPS1	HP:0002805	Accelerated bone age after puberty	-	OMIM:190350
7227	TRPS1	HP:0002805	Accelerated bone age after puberty	-	OMIM:190351
7227	TRPS1	HP:0005039	Multiple long-bone exostoses	HP:0040281	ORPHA:502
7227	TRPS1	HP:0000252	Microcephaly	HP:0040283	ORPHA:502
7227	TRPS1	HP:0000252	Microcephaly	-	OMIM:615777
7227	TRPS1	HP:0001582	Redundant skin	HP:0040282	ORPHA:502
7227	TRPS1	HP:0000219	Thin upper lip vermilion	2/2	OMIM:190350
7227	TRPS1	HP:0000219	Thin upper lip vermilion	2/2	OMIM:190351
7227	TRPS1	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:502
7227	TRPS1	HP:0000218	High palate	HP:0040282	ORPHA:77258
7227	TRPS1	HP:0002857	Genu valgum	-	OMIM:131300
7227	TRPS1	HP:0002857	Genu valgum	HP:0040283	ORPHA:502
7227	TRPS1	HP:0001533	Slender build	-	OMIM:131300
7227	TRPS1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7227	TRPS1	HP:0001510	Growth delay	-	OMIM:190350
7227	TRPS1	HP:0001510	Growth delay	HP:0040283	ORPHA:502
7227	TRPS1	HP:0007807	Optic nerve compression	-	OMIM:131300
7227	TRPS1	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:502
7227	TRPS1	HP:0011069	Supernumerary tooth	-	OMIM:190351
7227	TRPS1	HP:0011069	Supernumerary tooth	HP:0040282	ORPHA:77258
7227	TRPS1	HP:0012368	Flat face	7/7	OMIM:615777
7227	TRPS1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7227	TRPS1	HP:0000365	Hearing impairment	10/67	OMIM:131300
7227	TRPS1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:502
7227	TRPS1	HP:0000343	Long philtrum	2/2	OMIM:190350
7227	TRPS1	HP:0000343	Long philtrum	2/2	OMIM:190351
7227	TRPS1	HP:0000343	Long philtrum	HP:0040281	ORPHA:77258
7227	TRPS1	HP:0000343	Long philtrum	HP:0040281	ORPHA:502
7227	TRPS1	HP:0000343	Long philtrum	1/7	OMIM:615777
7227	TRPS1	HP:0011001	Increased bone mineral density	-	OMIM:131300
7227	TRPS1	HP:0000347	Micrognathia	-	OMIM:190350
7227	TRPS1	HP:0000347	Micrognathia	HP:0040281	ORPHA:77258
7227	TRPS1	HP:0000319	Smooth philtrum	2/2	OMIM:190351
7227	TRPS1	HP:0000311	Round face	2/7	OMIM:615777
7227	TRPS1	HP:0000325	Triangular face	HP:0040281	ORPHA:77258
7227	TRPS1	HP:0002970	Genu varum	-	OMIM:615777
7227	TRPS1	HP:0000303	Mandibular prognathia	-	OMIM:131300
7227	TRPS1	HP:0005338	Sparse lateral eyebrow	-	OMIM:190350
7227	TRPS1	HP:0005338	Sparse lateral eyebrow	2/2	OMIM:190351
7227	TRPS1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:502
7227	TRPS1	HP:0000400	Macrotia	-	OMIM:190350
7227	TRPS1	HP:0000400	Macrotia	HP:0040281	ORPHA:77258
7227	TRPS1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7227	TRPS1	HP:0000470	Short neck	1/7	OMIM:615777
7227	TRPS1	HP:0001773	Short foot	-	OMIM:190351
7227	TRPS1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7227	TRPS1	HP:0001763	Pes planus	-	OMIM:190350
7227	TRPS1	HP:0001763	Pes planus	1/7	OMIM:615777
7227	TRPS1	HP:0000447	Pear-shaped nose	-	OMIM:190350
7227	TRPS1	HP:0000447	Pear-shaped nose	-	OMIM:190351
7227	TRPS1	HP:0000414	Bulbous nose	3/3	OMIM:190350
7227	TRPS1	HP:0000414	Bulbous nose	2/2	OMIM:190351
7227	TRPS1	HP:0000414	Bulbous nose	HP:0040281	ORPHA:77258
7227	TRPS1	HP:0000414	Bulbous nose	HP:0040281	ORPHA:502
7227	TRPS1	HP:0000411	Protruding ear	2/2	OMIM:190350
7227	TRPS1	HP:0000411	Protruding ear	-	OMIM:190351
7227	TRPS1	HP:0000411	Protruding ear	HP:0040281	ORPHA:77258
7227	TRPS1	HP:0000411	Protruding ear	HP:0040281	ORPHA:502
7227	TRPS1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:502
7227	TRPS1	HP:0000430	Underdeveloped nasal alae	-	OMIM:190351
7227	TRPS1	HP:0001840	Metatarsus adductus	-	OMIM:615777
7227	TRPS1	HP:0000520	Proptosis	2/4	OMIM:131300
7227	TRPS1	HP:0000520	Proptosis	7/7	OMIM:615777
7227	TRPS1	HP:0001820	Leukonychia	-	OMIM:190350
7227	TRPS1	HP:0001820	Leukonychia	HP:0040282	ORPHA:77258
7227	TRPS1	HP:0001808	Fragile nails	HP:0040282	ORPHA:77258
7227	TRPS1	HP:0001816	Thin nail	-	OMIM:190350
7227	TRPS1	HP:0000592	Blue sclerae	2/7	OMIM:615777
7227	TRPS1	HP:0000574	Thick eyebrow	HP:0040282	ORPHA:502
7227	TRPS1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7227	TRPS1	HP:0001883	Talipes	HP:0040283	ORPHA:502
7227	TRPS1	HP:0012514	Lower limb pain	4/4	OMIM:131300
7234	TRU-TCA1-1	HP:0032209	Abnormal circulating free T3 concentration	0/1	OMIM:620198
7234	TRU-TCA1-1	HP:0031097	Abnormal thyroid-stimulating hormone level	0/2	OMIM:620198
7234	TRU-TCA1-1	HP:0001324	Muscle weakness	1/1	OMIM:620198
7234	TRU-TCA1-1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620198
7234	TRU-TCA1-1	HP:0002027	Abdominal pain	1/1	OMIM:620198
7234	TRU-TCA1-1	HP:0033192	Decreased circulating selenium concentration	1/1	OMIM:620198
7234	TRU-TCA1-1	HP:0003388	Easy fatigability	1/1	OMIM:620198
7234	TRU-TCA1-1	HP:0011788	Increased circulating free T3	1/1	OMIM:620198
7234	TRU-TCA1-1	HP:0008247	Euthyroid hyperthyroxinemia	1/1	OMIM:620198
7234	TRU-TCA1-1	HP:0003621	Juvenile onset	1/1	OMIM:620198
7234	TRU-TCA1-1	HP:0034288	Elevated circulating reverse T3 concentration	2/2	OMIM:620198
7234	TRU-TCA1-1	HP:0033076	Abnormal circulating free T4 concentration	1/1	OMIM:620198
7234	TRU-TCA1-1	HP:0033077	Increased circulating free T4 concentration	1/1	OMIM:620198
7248	TSC1	HP:0002465	Poor speech	HP:0040283	ORPHA:805
7248	TSC1	HP:0003774	Stage 5 chronic kidney disease	HP:0040284	ORPHA:805
7248	TSC1	HP:0002446	Astrocytosis	-	OMIM:607341
7248	TSC1	HP:0010953	Noncommunicating hydrocephalus	HP:0040283	ORPHA:805
7248	TSC1	HP:0003745	Sporadic	-	OMIM:607341
7248	TSC1	HP:0100804	Ungual fibroma	HP:0040283	ORPHA:805
7248	TSC1	HP:0100804	Ungual fibroma	HP:0040282	ORPHA:538
7248	TSC1	HP:0001269	Hemiparesis	-	OMIM:607341
7248	TSC1	HP:0001250	Seizure	HP:0040281	ORPHA:805
7248	TSC1	HP:0001250	Seizure	HP:0040283	ORPHA:538
7248	TSC1	HP:0001250	Seizure	4/5	OMIM:191100
7248	TSC1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:805
7248	TSC1	HP:0001249	Intellectual disability	6/27	OMIM:191100
7248	TSC1	HP:0001249	Intellectual disability	-	OMIM:607341
7248	TSC1	HP:0002576	Intussusception	HP:0040283	OMIM:174900
7248	TSC1	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
7248	TSC1	HP:0007449	Confetti-like hypopigmented macules	HP:0040282	ORPHA:805
7248	TSC1	HP:0008762	Repetitive compulsive behavior	HP:0040282	ORPHA:805
7248	TSC1	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:805
7248	TSC1	HP:0002539	Cortical dysplasia	HP:0040281	ORPHA:805
7248	TSC1	HP:0002539	Cortical dysplasia	-	OMIM:607341
7248	TSC1	HP:0001217	Clubbing	HP:0040283	OMIM:174900
7248	TSC1	HP:0002514	Cerebral calcification	-	OMIM:191100
7248	TSC1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:805
7248	TSC1	HP:0000077	Abnormality of the kidney	HP:0040281	ORPHA:805
7248	TSC1	HP:0012086	Abnormal urinary color	HP:0040283	ORPHA:538
7248	TSC1	HP:0001328	Specific learning disability	-	OMIM:191100
7248	TSC1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:805
7248	TSC1	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040282	ORPHA:538
7248	TSC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
7248	TSC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
7248	TSC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
7248	TSC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
7248	TSC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:191100
7248	TSC1	HP:0002666	Pheochromocytoma	HP:0040284	ORPHA:805
7248	TSC1	HP:0002619	Varicose veins	-	OMIM:153400
7248	TSC1	HP:0000175	Cleft palate	5/39	OMIM:153400
7248	TSC1	HP:0000169	Gingival fibromatosis	-	OMIM:191100
7248	TSC1	HP:0001482	Subcutaneous nodule	-	OMIM:191100
7248	TSC1	HP:0000113	Polycystic kidney dysplasia	HP:0040284	ORPHA:805
7248	TSC1	HP:0001442	Typified by somatic mosaicism	-	OMIM:606690
7248	TSC1	HP:0001442	Typified by somatic mosaicism	-	OMIM:607341
7248	TSC1	HP:0000107	Renal cyst	-	OMIM:191100
7248	TSC1	HP:0000107	Renal cyst	HP:0040282	ORPHA:805
7248	TSC1	HP:0001407	Hepatic cysts	HP:0040283	ORPHA:805
7248	TSC1	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:538
7248	TSC1	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
7248	TSC1	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
7248	TSC1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:538
7248	TSC1	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
7248	TSC1	HP:0100543	Cognitive impairment	-	OMIM:607341
7248	TSC1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:538
7248	TSC1	HP:0002098	Respiratory distress	HP:0040283	ORPHA:805
7248	TSC1	HP:0002097	Emphysema	HP:0040282	ORPHA:538
7248	TSC1	HP:0002094	Dyspnea	HP:0040281	ORPHA:538
7248	TSC1	HP:0002091	Restrictive ventilatory defect	HP:0040281	ORPHA:538
7248	TSC1	HP:0100570	Carcinoid tumor	HP:0040284	ORPHA:805
7248	TSC1	HP:0002133	Status epilepticus	HP:0040282	ORPHA:805
7248	TSC1	HP:0002113	Pulmonary infiltrates	HP:0040281	ORPHA:538
7248	TSC1	HP:0002107	Pneumothorax	HP:0040282	ORPHA:538
7248	TSC1	HP:0002105	Hemoptysis	HP:0040283	ORPHA:538
7248	TSC1	HP:0002105	Hemoptysis	HP:0040283	ORPHA:805
7248	TSC1	HP:0009554	Preauricular hair displacement	-	OMIM:191100
7248	TSC1	HP:0011852	Chylopericardium	HP:0040283	ORPHA:538
7248	TSC1	HP:0008208	Parathyroid hyperplasia	HP:0040284	ORPHA:805
7248	TSC1	HP:0009592	Astrocytoma	-	OMIM:191100
7248	TSC1	HP:0009594	Retinal hamartoma	HP:0040282	ORPHA:805
7248	TSC1	HP:0009594	Retinal hamartoma	0/5	OMIM:191100
7248	TSC1	HP:0009594	Retinal hamartoma	HP:0040283	ORPHA:538
7248	TSC1	HP:0003593	Infantile onset	-	OMIM:607341
7248	TSC1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:538
7248	TSC1	HP:0003581	Adult onset	-	OMIM:607341
7248	TSC1	HP:0100710	Impulsivity	HP:0040282	ORPHA:805
7248	TSC1	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:805
7248	TSC1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
7248	TSC1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:538
7248	TSC1	HP:0100763	Abnormality of the lymphatic system	HP:0040281	ORPHA:538
7248	TSC1	HP:0009743	Distichiasis	42/42	OMIM:153400
7248	TSC1	HP:0009727	Achromatic retinal patches	-	OMIM:191100
7248	TSC1	HP:0009729	Cardiac rhabdomyoma	HP:0040282	ORPHA:805
7248	TSC1	HP:0009729	Cardiac rhabdomyoma	-	OMIM:191100
7248	TSC1	HP:0009734	Optic nerve glioma	-	OMIM:191100
7248	TSC1	HP:0009717	Cortical tubers	HP:0040281	ORPHA:805
7248	TSC1	HP:0009717	Cortical tubers	4/5	OMIM:191100
7248	TSC1	HP:0009716	Subependymal nodules	HP:0040281	ORPHA:805
7248	TSC1	HP:0009716	Subependymal nodules	1/5	OMIM:191100
7248	TSC1	HP:0009719	Hypomelanotic macule	HP:0040281	ORPHA:805
7248	TSC1	HP:0009719	Hypomelanotic macule	2/5	OMIM:191100
7248	TSC1	HP:0009718	Subependymal giant-cell astrocytoma	HP:0040283	ORPHA:805
7248	TSC1	HP:0009720	Adenoma sebaceum	-	OMIM:191100
7248	TSC1	HP:0009722	Dental enamel pits	-	OMIM:191100
7248	TSC1	HP:0009721	Shagreen patch	HP:0040282	ORPHA:805
7248	TSC1	HP:0009721	Shagreen patch	1/5	OMIM:191100
7248	TSC1	HP:0009721	Shagreen patch	HP:0040283	ORPHA:538
7248	TSC1	HP:0009724	Subungual fibromas	-	OMIM:191100
7248	TSC1	HP:0009726	Renal neoplasm	HP:0040283	ORPHA:538
7248	TSC1	HP:0100750	Atelectasis	HP:0040282	ORPHA:538
7248	TSC1	HP:0100749	Chest pain	HP:0040281	ORPHA:538
7248	TSC1	HP:0007042	Focal white matter lesions	-	OMIM:607341
7248	TSC1	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:191100
7248	TSC1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:805
7248	TSC1	HP:0032051	Focal cortical dysplasia type II	-	OMIM:607341
7248	TSC1	HP:0010615	Angiofibromas	HP:0040282	ORPHA:805
7248	TSC1	HP:0010615	Angiofibromas	4/5	OMIM:191100
7248	TSC1	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:805
7248	TSC1	HP:0002384	Focal impaired awareness seizure	-	OMIM:607341
7248	TSC1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:805
7248	TSC1	HP:0001004	Lymphedema	HP:0040283	ORPHA:538
7248	TSC1	HP:0001004	Lymphedema	-	OMIM:153400
7248	TSC1	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:538
7248	TSC1	HP:0200024	Premature chromatid separation	-	OMIM:191100
7248	TSC1	HP:0007206	Hemimegalencephaly	-	OMIM:191100
7248	TSC1	HP:0007206	Hemimegalencephaly	-	OMIM:607341
7248	TSC1	HP:0100658	Cellulitis	2/6	OMIM:153400
7248	TSC1	HP:0200035	Skin plaque	HP:0040282	ORPHA:805
7248	TSC1	HP:0200040	Epidermoid cyst	HP:0040283	ORPHA:805
7248	TSC1	HP:0010762	Chordoma	-	OMIM:191100
7248	TSC1	HP:0004942	Aortic aneurysm	HP:0040284	ORPHA:805
7248	TSC1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
7248	TSC1	HP:0005584	Renal cell carcinoma	HP:0040284	ORPHA:805
7248	TSC1	HP:0005584	Renal cell carcinoma	-	OMIM:191100
7248	TSC1	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:538
7248	TSC1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:805
7248	TSC1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:538
7248	TSC1	HP:0000613	Photophobia	10/49	OMIM:153400
7248	TSC1	HP:0001945	Fever	HP:0040283	ORPHA:538
7248	TSC1	HP:0001903	Anemia	HP:0040282	OMIM:174900
7248	TSC1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
7248	TSC1	HP:0011354	Generalized abnormality of skin	HP:0040281	ORPHA:805
7248	TSC1	HP:0000656	Ectropion	2/43	OMIM:153400
7248	TSC1	HP:0003003	Colon cancer	20%	OMIM:174900
7248	TSC1	HP:0003003	Colon cancer	5/12	OMIM:608456
7248	TSC1	HP:0003073	Hypoalbuminemia	-	OMIM:174900
7248	TSC1	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
7248	TSC1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
7248	TSC1	HP:0000752	Hyperactivity	HP:0040282	ORPHA:805
7248	TSC1	HP:0012735	Cough	HP:0040281	ORPHA:538
7248	TSC1	HP:0012733	Macule	HP:0040283	ORPHA:538
7248	TSC1	HP:0000739	Anxiety	HP:0040283	ORPHA:805
7248	TSC1	HP:0000716	Depression	HP:0040282	ORPHA:805
7248	TSC1	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:805
7248	TSC1	HP:0000717	Autism	3/22	OMIM:191100
7248	TSC1	HP:0000717	Autism	HP:0040282	ORPHA:805
7248	TSC1	HP:0000729	Autistic behavior	4/5	OMIM:191100
7248	TSC1	HP:0000729	Autistic behavior	HP:0040282	ORPHA:805
7248	TSC1	HP:0000708	Atypical behavior	HP:0040281	ORPHA:805
7248	TSC1	HP:0012798	Pulmonary lymphangiomyomatosis	HP:0040282	ORPHA:805
7248	TSC1	HP:0012798	Pulmonary lymphangiomyomatosis	0/5	OMIM:191100
7248	TSC1	HP:0012798	Pulmonary lymphangiomyomatosis	HP:0040282	ORPHA:538
7248	TSC1	HP:0012798	Pulmonary lymphangiomyomatosis	-	OMIM:606690
7248	TSC1	HP:0012778	Retinal astrocytic hamartoma	HP:0040284	ORPHA:805
7248	TSC1	HP:0000790	Hematuria	HP:0040282	ORPHA:538
7248	TSC1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:805
7248	TSC1	HP:0004467	Preauricular pit	-	OMIM:187500
7248	TSC1	HP:0012804	Corneal ulceration	-	OMIM:153400
7248	TSC1	HP:0000826	Precocious puberty	-	OMIM:191100
7248	TSC1	HP:0000822	Hypertension	HP:0040283	ORPHA:805
7248	TSC1	HP:0000821	Hypothyroidism	-	OMIM:191100
7248	TSC1	HP:0040030	Chorioretinal hypopigmentation	HP:0040282	ORPHA:805
7248	TSC1	HP:0010310	Chylothorax	1/6	OMIM:153400
7248	TSC1	HP:0010310	Chylothorax	HP:0040282	ORPHA:538
7248	TSC1	HP:0000957	Cafe-au-lait spot	-	OMIM:191100
7248	TSC1	HP:0011675	Arrhythmia	-	OMIM:153400
7248	TSC1	HP:0002808	Kyphosis	2/5	OMIM:153400
7248	TSC1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:538
7248	TSC1	HP:0002897	Parathyroid adenoma	HP:0040284	ORPHA:805
7248	TSC1	HP:0002878	Respiratory failure	HP:0040284	ORPHA:805
7248	TSC1	HP:0002893	Pituitary adenoma	HP:0040284	ORPHA:805
7248	TSC1	HP:0002888	Ependymoma	-	OMIM:191100
7248	TSC1	HP:0001541	Ascites	HP:0040283	ORPHA:538
7248	TSC1	HP:0000204	Cleft upper lip	-	OMIM:153400
7248	TSC1	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
7248	TSC1	HP:0011097	Epileptic spasm	-	OMIM:191100
7248	TSC1	HP:0011097	Epileptic spasm	HP:0040282	ORPHA:805
7248	TSC1	HP:0012378	Fatigue	HP:0040283	ORPHA:538
7248	TSC1	HP:0011029	Internal hemorrhage	HP:0040284	ORPHA:805
7248	TSC1	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
7248	TSC1	HP:0002900	Hypokalemia	-	OMIM:174900
7248	TSC1	HP:0000337	Broad forehead	-	OMIM:187500
7248	TSC1	HP:0000347	Micrognathia	2/5	OMIM:153400
7248	TSC1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
7248	TSC1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
7248	TSC1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
7248	TSC1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
7248	TSC1	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:191100
7248	TSC1	HP:0012469	Infantile spasms	3/22	OMIM:191100
7248	TSC1	HP:0012469	Infantile spasms	HP:0040282	ORPHA:805
7248	TSC1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
7248	TSC1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
7248	TSC1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
7248	TSC1	HP:0012433	Abnormal social behavior	HP:0040282	ORPHA:805
7248	TSC1	HP:0000465	Webbed neck	6/43	OMIM:153400
7248	TSC1	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
7248	TSC1	HP:0030405	Pancreatic endocrine tumor	HP:0040284	ORPHA:805
7248	TSC1	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
7248	TSC1	HP:0006772	Renal angiomyolipoma	HP:0040283	ORPHA:805
7248	TSC1	HP:0006772	Renal angiomyolipoma	12/15	OMIM:191100
7248	TSC1	HP:0006772	Renal angiomyolipoma	HP:0040282	ORPHA:538
7248	TSC1	HP:0000520	Proptosis	-	OMIM:187500
7248	TSC1	HP:0000509	Conjunctivitis	-	OMIM:153400
7248	TSC1	HP:0000508	Ptosis	2/39	OMIM:153400
7248	TSC1	HP:0000568	Microphthalmia	1/6	OMIM:153400
7249	TSC2	HP:0002465	Poor speech	HP:0040283	ORPHA:805
7249	TSC2	HP:0003774	Stage 5 chronic kidney disease	HP:0040284	ORPHA:805
7249	TSC2	HP:0002446	Astrocytosis	-	OMIM:607341
7249	TSC2	HP:0010953	Noncommunicating hydrocephalus	HP:0040283	ORPHA:805
7249	TSC2	HP:0003745	Sporadic	-	OMIM:607341
7249	TSC2	HP:0100804	Ungual fibroma	HP:0040283	ORPHA:805
7249	TSC2	HP:0100804	Ungual fibroma	HP:0040282	ORPHA:538
7249	TSC2	HP:0001269	Hemiparesis	-	OMIM:607341
7249	TSC2	HP:0001250	Seizure	HP:0040281	ORPHA:805
7249	TSC2	HP:0001250	Seizure	HP:0040283	ORPHA:538
7249	TSC2	HP:0001250	Seizure	129/130	OMIM:613254
7249	TSC2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:805
7249	TSC2	HP:0001249	Intellectual disability	72/97	OMIM:613254
7249	TSC2	HP:0001249	Intellectual disability	-	OMIM:607341
7249	TSC2	HP:0002576	Intussusception	HP:0040283	OMIM:174900
7249	TSC2	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
7249	TSC2	HP:0007449	Confetti-like hypopigmented macules	HP:0040282	ORPHA:805
7249	TSC2	HP:0008762	Repetitive compulsive behavior	HP:0040282	ORPHA:805
7249	TSC2	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:805
7249	TSC2	HP:0002539	Cortical dysplasia	HP:0040281	ORPHA:805
7249	TSC2	HP:0002539	Cortical dysplasia	-	OMIM:607341
7249	TSC2	HP:0001217	Clubbing	HP:0040283	OMIM:174900
7249	TSC2	HP:0002514	Cerebral calcification	-	OMIM:613254
7249	TSC2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:805
7249	TSC2	HP:0000077	Abnormality of the kidney	HP:0040281	ORPHA:805
7249	TSC2	HP:0012086	Abnormal urinary color	HP:0040283	ORPHA:538
7249	TSC2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:805
7249	TSC2	HP:0001328	Specific learning disability	-	OMIM:613254
7249	TSC2	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040282	ORPHA:538
7249	TSC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
7249	TSC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
7249	TSC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
7249	TSC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613254
7249	TSC2	HP:0002666	Pheochromocytoma	HP:0040284	ORPHA:805
7249	TSC2	HP:0002619	Varicose veins	-	OMIM:153400
7249	TSC2	HP:0000175	Cleft palate	5/39	OMIM:153400
7249	TSC2	HP:0000169	Gingival fibromatosis	1/1	OMIM:613254
7249	TSC2	HP:0001482	Subcutaneous nodule	-	OMIM:613254
7249	TSC2	HP:0000113	Polycystic kidney dysplasia	HP:0040284	ORPHA:805
7249	TSC2	HP:0001442	Typified by somatic mosaicism	-	OMIM:606690
7249	TSC2	HP:0001442	Typified by somatic mosaicism	-	OMIM:607341
7249	TSC2	HP:0000107	Renal cyst	54/122	OMIM:613254
7249	TSC2	HP:0000107	Renal cyst	HP:0040282	ORPHA:805
7249	TSC2	HP:0001407	Hepatic cysts	HP:0040283	ORPHA:805
7249	TSC2	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:538
7249	TSC2	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
7249	TSC2	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
7249	TSC2	HP:0002027	Abdominal pain	HP:0040282	ORPHA:538
7249	TSC2	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
7249	TSC2	HP:0100543	Cognitive impairment	-	OMIM:607341
7249	TSC2	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:538
7249	TSC2	HP:0002098	Respiratory distress	HP:0040283	ORPHA:805
7249	TSC2	HP:0002097	Emphysema	HP:0040282	ORPHA:538
7249	TSC2	HP:0002094	Dyspnea	HP:0040281	ORPHA:538
7249	TSC2	HP:0002091	Restrictive ventilatory defect	HP:0040281	ORPHA:538
7249	TSC2	HP:0100570	Carcinoid tumor	HP:0040284	ORPHA:805
7249	TSC2	HP:0002133	Status epilepticus	HP:0040282	ORPHA:805
7249	TSC2	HP:0002113	Pulmonary infiltrates	HP:0040281	ORPHA:538
7249	TSC2	HP:0002107	Pneumothorax	HP:0040282	ORPHA:538
7249	TSC2	HP:0002105	Hemoptysis	HP:0040283	ORPHA:538
7249	TSC2	HP:0002105	Hemoptysis	HP:0040283	ORPHA:805
7249	TSC2	HP:0011852	Chylopericardium	HP:0040283	ORPHA:538
7249	TSC2	HP:0008208	Parathyroid hyperplasia	HP:0040284	ORPHA:805
7249	TSC2	HP:0009592	Astrocytoma	-	OMIM:613254
7249	TSC2	HP:0009594	Retinal hamartoma	35/124	OMIM:613254
7249	TSC2	HP:0009594	Retinal hamartoma	HP:0040282	ORPHA:805
7249	TSC2	HP:0009594	Retinal hamartoma	HP:0040283	ORPHA:538
7249	TSC2	HP:0003593	Infantile onset	1/1	OMIM:613254
7249	TSC2	HP:0003593	Infantile onset	-	OMIM:607341
7249	TSC2	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:538
7249	TSC2	HP:0003581	Adult onset	-	OMIM:607341
7249	TSC2	HP:0100710	Impulsivity	HP:0040282	ORPHA:805
7249	TSC2	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:805
7249	TSC2	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
7249	TSC2	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:538
7249	TSC2	HP:0100763	Abnormality of the lymphatic system	HP:0040281	ORPHA:538
7249	TSC2	HP:0009743	Distichiasis	42/42	OMIM:153400
7249	TSC2	HP:0009727	Achromatic retinal patches	-	OMIM:613254
7249	TSC2	HP:0009729	Cardiac rhabdomyoma	59/119	OMIM:613254
7249	TSC2	HP:0009729	Cardiac rhabdomyoma	HP:0040282	ORPHA:805
7249	TSC2	HP:0009734	Optic nerve glioma	-	OMIM:613254
7249	TSC2	HP:0009717	Cortical tubers	60/67	OMIM:613254
7249	TSC2	HP:0009717	Cortical tubers	HP:0040281	ORPHA:805
7249	TSC2	HP:0009716	Subependymal nodules	133/143	OMIM:613254
7249	TSC2	HP:0009716	Subependymal nodules	HP:0040281	ORPHA:805
7249	TSC2	HP:0009719	Hypomelanotic macule	131/138	OMIM:613254
7249	TSC2	HP:0009719	Hypomelanotic macule	HP:0040281	ORPHA:805
7249	TSC2	HP:0009718	Subependymal giant-cell astrocytoma	13/118	OMIM:613254
7249	TSC2	HP:0009718	Subependymal giant-cell astrocytoma	HP:0040283	ORPHA:805
7249	TSC2	HP:0009720	Adenoma sebaceum	1/1	OMIM:613254
7249	TSC2	HP:0009722	Dental enamel pits	1/1	OMIM:613254
7249	TSC2	HP:0009721	Shagreen patch	71/138	OMIM:613254
7249	TSC2	HP:0009721	Shagreen patch	HP:0040282	ORPHA:805
7249	TSC2	HP:0009721	Shagreen patch	HP:0040283	ORPHA:538
7249	TSC2	HP:0009724	Subungual fibromas	27/129	OMIM:613254
7249	TSC2	HP:0009726	Renal neoplasm	HP:0040283	ORPHA:538
7249	TSC2	HP:0100750	Atelectasis	HP:0040282	ORPHA:538
7249	TSC2	HP:0100749	Chest pain	HP:0040281	ORPHA:538
7249	TSC2	HP:0007042	Focal white matter lesions	-	OMIM:607341
7249	TSC2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:805
7249	TSC2	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:613254
7249	TSC2	HP:0032051	Focal cortical dysplasia type II	-	OMIM:607341
7249	TSC2	HP:0010615	Angiofibromas	99/128	OMIM:613254
7249	TSC2	HP:0010615	Angiofibromas	HP:0040282	ORPHA:805
7249	TSC2	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:805
7249	TSC2	HP:0002384	Focal impaired awareness seizure	-	OMIM:607341
7249	TSC2	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:805
7249	TSC2	HP:0001004	Lymphedema	HP:0040283	ORPHA:538
7249	TSC2	HP:0001004	Lymphedema	-	OMIM:153400
7249	TSC2	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:538
7249	TSC2	HP:0007206	Hemimegalencephaly	-	OMIM:613254
7249	TSC2	HP:0007206	Hemimegalencephaly	-	OMIM:607341
7249	TSC2	HP:0100658	Cellulitis	2/6	OMIM:153400
7249	TSC2	HP:0200035	Skin plaque	HP:0040282	ORPHA:805
7249	TSC2	HP:0200040	Epidermoid cyst	HP:0040283	ORPHA:805
7249	TSC2	HP:0010762	Chordoma	-	OMIM:613254
7249	TSC2	HP:0004942	Aortic aneurysm	HP:0040284	ORPHA:805
7249	TSC2	HP:0005584	Renal cell carcinoma	-	OMIM:613254
7249	TSC2	HP:0005584	Renal cell carcinoma	HP:0040284	ORPHA:805
7249	TSC2	HP:0005564	Absence of renal corticomedullary differentiation	1/1	OMIM:613254
7249	TSC2	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:538
7249	TSC2	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:805
7249	TSC2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:538
7249	TSC2	HP:0000613	Photophobia	10/49	OMIM:153400
7249	TSC2	HP:0001945	Fever	HP:0040283	ORPHA:538
7249	TSC2	HP:0001903	Anemia	HP:0040282	OMIM:174900
7249	TSC2	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
7249	TSC2	HP:0011354	Generalized abnormality of skin	HP:0040281	ORPHA:805
7249	TSC2	HP:0000656	Ectropion	2/43	OMIM:153400
7249	TSC2	HP:0003003	Colon cancer	20%	OMIM:174900
7249	TSC2	HP:0003003	Colon cancer	5/12	OMIM:608456
7249	TSC2	HP:0003073	Hypoalbuminemia	-	OMIM:174900
7249	TSC2	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
7249	TSC2	HP:0034198	Second trimester onset	1/1	OMIM:613254
7249	TSC2	HP:0003011	Abnormality of the musculature	-	OMIM:153400
7249	TSC2	HP:0000752	Hyperactivity	HP:0040282	ORPHA:805
7249	TSC2	HP:0012735	Cough	HP:0040281	ORPHA:538
7249	TSC2	HP:0012733	Macule	HP:0040283	ORPHA:538
7249	TSC2	HP:0000739	Anxiety	HP:0040283	ORPHA:805
7249	TSC2	HP:0000716	Depression	HP:0040282	ORPHA:805
7249	TSC2	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:805
7249	TSC2	HP:0000717	Autism	32/75	OMIM:613254
7249	TSC2	HP:0000717	Autism	HP:0040282	ORPHA:805
7249	TSC2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:805
7249	TSC2	HP:0000708	Atypical behavior	HP:0040281	ORPHA:805
7249	TSC2	HP:0012798	Pulmonary lymphangiomyomatosis	4/24	OMIM:613254
7249	TSC2	HP:0012798	Pulmonary lymphangiomyomatosis	HP:0040282	ORPHA:805
7249	TSC2	HP:0012798	Pulmonary lymphangiomyomatosis	HP:0040282	ORPHA:538
7249	TSC2	HP:0012798	Pulmonary lymphangiomyomatosis	-	OMIM:606690
7249	TSC2	HP:0012778	Retinal astrocytic hamartoma	HP:0040284	ORPHA:805
7249	TSC2	HP:0000790	Hematuria	HP:0040282	ORPHA:538
7249	TSC2	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:805
7249	TSC2	HP:0012804	Corneal ulceration	-	OMIM:153400
7249	TSC2	HP:0000826	Precocious puberty	-	OMIM:613254
7249	TSC2	HP:0000822	Hypertension	HP:0040283	ORPHA:805
7249	TSC2	HP:0000821	Hypothyroidism	-	OMIM:613254
7249	TSC2	HP:0040030	Chorioretinal hypopigmentation	HP:0040282	ORPHA:805
7249	TSC2	HP:0010310	Chylothorax	1/6	OMIM:153400
7249	TSC2	HP:0010310	Chylothorax	HP:0040282	ORPHA:538
7249	TSC2	HP:0000957	Cafe-au-lait spot	-	OMIM:613254
7249	TSC2	HP:0011675	Arrhythmia	-	OMIM:153400
7249	TSC2	HP:0002808	Kyphosis	2/5	OMIM:153400
7249	TSC2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:538
7249	TSC2	HP:0002897	Parathyroid adenoma	HP:0040284	ORPHA:805
7249	TSC2	HP:0002878	Respiratory failure	HP:0040284	ORPHA:805
7249	TSC2	HP:0002893	Pituitary adenoma	HP:0040284	ORPHA:805
7249	TSC2	HP:0002888	Ependymoma	-	OMIM:613254
7249	TSC2	HP:0001541	Ascites	HP:0040283	ORPHA:538
7249	TSC2	HP:0000204	Cleft upper lip	-	OMIM:153400
7249	TSC2	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
7249	TSC2	HP:0011097	Epileptic spasm	-	OMIM:613254
7249	TSC2	HP:0011097	Epileptic spasm	HP:0040282	ORPHA:805
7249	TSC2	HP:0012378	Fatigue	HP:0040283	ORPHA:538
7249	TSC2	HP:0011029	Internal hemorrhage	HP:0040284	ORPHA:805
7249	TSC2	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
7249	TSC2	HP:0002900	Hypokalemia	-	OMIM:174900
7249	TSC2	HP:0000365	Hearing impairment	1/1	OMIM:613254
7249	TSC2	HP:0000347	Micrognathia	2/5	OMIM:153400
7249	TSC2	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
7249	TSC2	HP:0001662	Bradycardia	1/2	OMIM:613254
7249	TSC2	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
7249	TSC2	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
7249	TSC2	HP:0001716	Wolff-Parkinson-White syndrome	-	OMIM:613254
7249	TSC2	HP:0012469	Infantile spasms	43/76	OMIM:613254
7249	TSC2	HP:0012469	Infantile spasms	HP:0040282	ORPHA:805
7249	TSC2	HP:0000476	Cystic hygroma	2/43	OMIM:153400
7249	TSC2	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
7249	TSC2	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
7249	TSC2	HP:0012433	Abnormal social behavior	HP:0040282	ORPHA:805
7249	TSC2	HP:0000465	Webbed neck	6/43	OMIM:153400
7249	TSC2	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
7249	TSC2	HP:0030405	Pancreatic endocrine tumor	HP:0040284	ORPHA:805
7249	TSC2	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
7249	TSC2	HP:0006772	Renal angiomyolipoma	4/8	OMIM:613254
7249	TSC2	HP:0006772	Renal angiomyolipoma	HP:0040283	ORPHA:805
7249	TSC2	HP:0006772	Renal angiomyolipoma	HP:0040282	ORPHA:538
7249	TSC2	HP:0000509	Conjunctivitis	-	OMIM:153400
7249	TSC2	HP:0000508	Ptosis	2/39	OMIM:153400
7249	TSC2	HP:0000568	Microphthalmia	1/6	OMIM:153400
7252	TSHB	HP:0010864	Intellectual disability, severe	-	OMIM:275100
7252	TSHB	HP:0001270	Motor delay	1/3	OMIM:275100
7252	TSHB	HP:0001254	Lethargy	HP:0040283	ORPHA:90674
7252	TSHB	HP:0001252	Hypotonia	HP:0040283	ORPHA:90674
7252	TSHB	HP:0001252	Hypotonia	-	OMIM:275100
7252	TSHB	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:90674
7252	TSHB	HP:0031098	Decreased thyroid-stimulating hormone level	3/3	OMIM:275100
7252	TSHB	HP:0031098	Decreased thyroid-stimulating hormone level	HP:0040281	ORPHA:90674
7252	TSHB	HP:0000053	Macroorchidism	HP:0040282	ORPHA:90674
7252	TSHB	HP:0002690	Large sella turcica	HP:0040282	ORPHA:90674
7252	TSHB	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:90674
7252	TSHB	HP:0008850	Severe postnatal growth retardation	-	OMIM:275100
7252	TSHB	HP:0008828	Delayed proximal femoral epiphyseal ossification	HP:0040282	ORPHA:90674
7252	TSHB	HP:0000007	Autosomal recessive inheritance	-	OMIM:275100
7252	TSHB	HP:0025483	Abnormal circulating thyroglobulin concentration	HP:0040281	ORPHA:90674
7252	TSHB	HP:0000158	Macroglossia	HP:0040282	ORPHA:90674
7252	TSHB	HP:0000158	Macroglossia	2/3	OMIM:275100
7252	TSHB	HP:0031208	Increased pituitary glycoprotein hormone alpha subunit level	HP:0040281	ORPHA:90674
7252	TSHB	HP:0031219	Reduced radioactive iodine uptake	HP:0040281	ORPHA:90674
7252	TSHB	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:90674
7252	TSHB	HP:0002019	Constipation	HP:0040282	ORPHA:90674
7252	TSHB	HP:0005990	Thyroid hypoplasia	HP:0040281	ORPHA:90674
7252	TSHB	HP:0002045	Hypothermia	HP:0040282	ORPHA:90674
7252	TSHB	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:90674
7252	TSHB	HP:0008245	Pituitary hypothyroidism	HP:0040281	ORPHA:90674
7252	TSHB	HP:0003593	Infantile onset	3/3	OMIM:275100
7252	TSHB	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:90674
7252	TSHB	HP:0011968	Feeding difficulties	1/3	OMIM:275100
7252	TSHB	HP:0002312	Clumsiness	HP:0040283	ORPHA:90674
7252	TSHB	HP:0006887	Intellectual disability, progressive	-	OMIM:275100
7252	TSHB	HP:0000716	Depression	HP:0040284	ORPHA:90674
7252	TSHB	HP:0011437	Maternal autoimmune disease	-	ORPHA:90674
7252	TSHB	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:90674
7252	TSHB	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:90674
7252	TSHB	HP:0004491	Large posterior fontanelle	HP:0040282	ORPHA:90674
7252	TSHB	HP:0000853	Goiter	HP:0040284	ORPHA:90674
7252	TSHB	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:90674
7252	TSHB	HP:0000821	Hypothyroidism	3/3	OMIM:275100
7252	TSHB	HP:0003265	Neonatal hyperbilirubinemia	HP:0040282	ORPHA:90674
7252	TSHB	HP:0000958	Dry skin	HP:0040282	ORPHA:90674
7252	TSHB	HP:0000958	Dry skin	1/3	OMIM:275100
7252	TSHB	HP:0000282	Facial edema	HP:0040282	ORPHA:90674
7252	TSHB	HP:0000260	Wide anterior fontanel	2/3	OMIM:275100
7252	TSHB	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:90674
7252	TSHB	HP:0030057	Autoimmune antibody positivity	-	ORPHA:90674
7252	TSHB	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:90674
7252	TSHB	HP:0001537	Umbilical hernia	-	OMIM:275100
7252	TSHB	HP:0001539	Omphalocele	1/3	OMIM:275100
7252	TSHB	HP:0001508	Failure to thrive	HP:0040282	ORPHA:90674
7252	TSHB	HP:0001510	Growth delay	HP:0040282	ORPHA:90674
7252	TSHB	HP:0031507	Decreased circulating T4 concentration	3/3	OMIM:275100
7252	TSHB	HP:0031507	Decreased circulating T4 concentration	HP:0040281	ORPHA:90674
7252	TSHB	HP:0012378	Fatigue	HP:0040282	ORPHA:90674
7252	TSHB	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:90674
7252	TSHB	HP:0001609	Hoarse voice	HP:0040282	ORPHA:90674
7252	TSHB	HP:0001615	Hoarse cry	2/3	OMIM:275100
7252	TSHB	HP:0001615	Hoarse cry	HP:0040282	ORPHA:90674
7252	TSHB	HP:0001662	Bradycardia	HP:0040283	ORPHA:90674
7252	TSHB	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:90674
7252	TSHB	HP:0005280	Depressed nasal bridge	2/3	OMIM:275100
7253	TSHR	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:95720
7253	TSHR	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:95713
7253	TSHR	HP:0003745	Sporadic	-	OMIM:609152
7253	TSHR	HP:0001270	Motor delay	-	OMIM:609152
7253	TSHR	HP:0001270	Motor delay	HP:0040282	ORPHA:99819
7253	TSHR	HP:0001270	Motor delay	HP:0040282	ORPHA:424
7253	TSHR	HP:0001254	Lethargy	HP:0040283	ORPHA:90673
7253	TSHR	HP:0001254	Lethargy	HP:0040282	ORPHA:95713
7253	TSHR	HP:0001252	Hypotonia	HP:0040284	ORPHA:90673
7253	TSHR	HP:0001252	Hypotonia	HP:0040281	ORPHA:95720
7253	TSHR	HP:0001252	Hypotonia	HP:0040281	ORPHA:95713
7253	TSHR	HP:0001249	Intellectual disability	1/1	OMIM:609152
7253	TSHR	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:90673
7253	TSHR	HP:0001263	Global developmental delay	HP:0040282	ORPHA:424
7253	TSHR	HP:0001263	Global developmental delay	HP:0040282	ORPHA:95720
7253	TSHR	HP:0001263	Global developmental delay	HP:0040282	ORPHA:95713
7253	TSHR	HP:0031098	Decreased thyroid-stimulating hormone level	11/11	OMIM:609152
7253	TSHR	HP:0031098	Decreased thyroid-stimulating hormone level	1/1	OMIM:603373
7253	TSHR	HP:0025379	Anti-thyroid peroxidase antibody positivity	0/1	OMIM:609152
7253	TSHR	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:90673
7253	TSHR	HP:0008828	Delayed proximal femoral epiphyseal ossification	HP:0040283	ORPHA:90673
7253	TSHR	HP:0001324	Muscle weakness	HP:0040281	ORPHA:95713
7253	TSHR	HP:0000007	Autosomal recessive inheritance	-	OMIM:275200
7253	TSHR	HP:0000006	Autosomal dominant inheritance	-	OMIM:609152
7253	TSHR	HP:0000006	Autosomal dominant inheritance	-	OMIM:603373
7253	TSHR	HP:0012188	Hyperemesis gravidarum	HP:0040280	ORPHA:99819
7253	TSHR	HP:0012188	Hyperemesis gravidarum	1/1	OMIM:603373
7253	TSHR	HP:0025484	Increased circulating thyroglobulin concentration	1/1	OMIM:609152
7253	TSHR	HP:0025484	Increased circulating thyroglobulin concentration	HP:0040282	ORPHA:90673
7253	TSHR	HP:0025483	Abnormal circulating thyroglobulin concentration	HP:0040281	ORPHA:95713
7253	TSHR	HP:0000158	Macroglossia	HP:0040283	ORPHA:90673
7253	TSHR	HP:0000158	Macroglossia	HP:0040281	ORPHA:95720
7253	TSHR	HP:0000158	Macroglossia	HP:0040281	ORPHA:95713
7253	TSHR	HP:0025429	Abnormal cry	HP:0040283	ORPHA:90673
7253	TSHR	HP:0033850	Coldness	HP:0040282	ORPHA:95713
7253	TSHR	HP:0031219	Reduced radioactive iodine uptake	HP:0040282	ORPHA:90673
7253	TSHR	HP:0031220	Increased radioactive iodine uptake	HP:0040283	ORPHA:90673
7253	TSHR	HP:0002019	Constipation	HP:0040283	ORPHA:90673
7253	TSHR	HP:0002019	Constipation	HP:0040281	ORPHA:95720
7253	TSHR	HP:0002019	Constipation	HP:0040281	ORPHA:95713
7253	TSHR	HP:0005990	Thyroid hypoplasia	0/3	OMIM:275200
7253	TSHR	HP:0005990	Thyroid hypoplasia	HP:0040283	ORPHA:90673
7253	TSHR	HP:0005990	Thyroid hypoplasia	HP:0040281	ORPHA:95720
7253	TSHR	HP:0002014	Diarrhea	HP:0040281	ORPHA:99819
7253	TSHR	HP:0002014	Diarrhea	HP:0040281	ORPHA:424
7253	TSHR	HP:0002045	Hypothermia	HP:0040284	ORPHA:90673
7253	TSHR	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:90673
7253	TSHR	HP:0008191	Thyroid agenesis	HP:0040281	ORPHA:95713
7253	TSHR	HP:0011788	Increased circulating free T3	1/1	OMIM:609152
7253	TSHR	HP:0011789	Impaired sensitivity to thyroid stimulating hormone	HP:0040280	ORPHA:90673
7253	TSHR	HP:0011784	Thyrotoxicosis with diffuse goiter	HP:0040281	ORPHA:99819
7253	TSHR	HP:0011784	Thyrotoxicosis with diffuse goiter	HP:0040281	ORPHA:424
7253	TSHR	HP:0011790	Activating thyroid-stimulating hormone receptor defect	HP:0040280	ORPHA:99819
7253	TSHR	HP:0011790	Activating thyroid-stimulating hormone receptor defect	HP:0040280	ORPHA:424
7253	TSHR	HP:0008249	Thyroid hyperplasia	1/1	OMIM:609152
7253	TSHR	HP:0008249	Thyroid hyperplasia	HP:0040281	ORPHA:99819
7253	TSHR	HP:0008249	Thyroid hyperplasia	HP:0040281	ORPHA:424
7253	TSHR	HP:0008223	Compensated hypothyroidism	HP:0040283	ORPHA:90673
7253	TSHR	HP:0008282	Unconjugated hyperbilirubinemia	HP:0040282	ORPHA:95713
7253	TSHR	HP:0003577	Congenital onset	3/3	OMIM:275200
7253	TSHR	HP:0100786	Hypersomnia	HP:0040281	ORPHA:95713
7253	TSHR	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:95713
7253	TSHR	HP:0032069	Anti-thyroglobulin antibody positivity	0/1	OMIM:609152
7253	TSHR	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:99819
7253	TSHR	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:424
7253	TSHR	HP:0002378	Hand tremor	HP:0040281	ORPHA:99819
7253	TSHR	HP:0002378	Hand tremor	HP:0040281	ORPHA:424
7253	TSHR	HP:0200028	Pretibial myxedema	0/1	OMIM:609152
7253	TSHR	HP:0003623	Neonatal onset	1/1	OMIM:609152
7253	TSHR	HP:0004322	Short stature	HP:0040282	ORPHA:95720
7253	TSHR	HP:0004322	Short stature	HP:0040282	ORPHA:95713
7253	TSHR	HP:0005616	Accelerated skeletal maturation	HP:0040282	ORPHA:424
7253	TSHR	HP:0005616	Accelerated skeletal maturation	1/1	OMIM:609152
7253	TSHR	HP:0000752	Hyperactivity	HP:0040282	ORPHA:99819
7253	TSHR	HP:0000752	Hyperactivity	HP:0040282	ORPHA:424
7253	TSHR	HP:0000752	Hyperactivity	1/1	OMIM:609152
7253	TSHR	HP:0000750	Delayed speech and language development	-	OMIM:609152
7253	TSHR	HP:0000713	Agitation	HP:0040282	ORPHA:99819
7253	TSHR	HP:0000713	Agitation	HP:0040282	ORPHA:424
7253	TSHR	HP:0011437	Maternal autoimmune disease	-	ORPHA:90673
7253	TSHR	HP:0004491	Large posterior fontanelle	HP:0040283	ORPHA:90673
7253	TSHR	HP:0000851	Congenital hypothyroidism	HP:0040281	ORPHA:90673
7253	TSHR	HP:0000853	Goiter	HP:0040281	ORPHA:99819
7253	TSHR	HP:0000853	Goiter	HP:0040281	ORPHA:424
7253	TSHR	HP:0000853	Goiter	0/3	OMIM:275200
7253	TSHR	HP:0000853	Goiter	-	ORPHA:90673
7253	TSHR	HP:0000853	Goiter	11/11	OMIM:609152
7253	TSHR	HP:0000836	Hyperthyroidism	HP:0040280	ORPHA:99819
7253	TSHR	HP:0000836	Hyperthyroidism	HP:0040280	ORPHA:424
7253	TSHR	HP:0000836	Hyperthyroidism	11/11	OMIM:609152
7253	TSHR	HP:0000836	Hyperthyroidism	1/1	OMIM:603373
7253	TSHR	HP:0000821	Hypothyroidism	HP:0040281	ORPHA:95720
7253	TSHR	HP:0000821	Hypothyroidism	HP:0040281	ORPHA:95713
7253	TSHR	HP:0000821	Hypothyroidism	0/3	OMIM:275200
7253	TSHR	HP:0003270	Abdominal distention	HP:0040281	ORPHA:95720
7253	TSHR	HP:0003270	Abdominal distention	HP:0040281	ORPHA:95713
7253	TSHR	HP:0003265	Neonatal hyperbilirubinemia	HP:0040283	ORPHA:90673
7253	TSHR	HP:0000952	Jaundice	HP:0040281	ORPHA:95720
7253	TSHR	HP:0000969	Edema	HP:0040284	ORPHA:90673
7253	TSHR	HP:0000282	Facial edema	HP:0040282	ORPHA:95713
7253	TSHR	HP:0000280	Coarse facial features	HP:0040281	ORPHA:95720
7253	TSHR	HP:0000280	Coarse facial features	HP:0040281	ORPHA:95713
7253	TSHR	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:95720
7253	TSHR	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:95713
7253	TSHR	HP:0030057	Autoimmune antibody positivity	-	ORPHA:99819
7253	TSHR	HP:0030057	Autoimmune antibody positivity	-	ORPHA:424
7253	TSHR	HP:0030057	Autoimmune antibody positivity	-	ORPHA:90673
7253	TSHR	HP:0000239	Large fontanelles	HP:0040281	ORPHA:95720
7253	TSHR	HP:0000239	Large fontanelles	HP:0040281	ORPHA:95713
7253	TSHR	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:90673
7253	TSHR	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:95713
7253	TSHR	HP:0001518	Small for gestational age	HP:0040281	ORPHA:424
7253	TSHR	HP:0001518	Small for gestational age	-	OMIM:609152
7253	TSHR	HP:0001510	Growth delay	HP:0040281	ORPHA:95720
7253	TSHR	HP:0001510	Growth delay	HP:0040282	ORPHA:95713
7253	TSHR	HP:0031506	Increased circulating T4 concentration	1/1	OMIM:609152
7253	TSHR	HP:0031506	Increased circulating T4 concentration	1/1	OMIM:603373
7253	TSHR	HP:0031507	Decreased circulating T4 concentration	HP:0040282	ORPHA:90673
7253	TSHR	HP:0012378	Fatigue	HP:0040281	ORPHA:95720
7253	TSHR	HP:0012378	Fatigue	HP:0040281	ORPHA:95713
7253	TSHR	HP:0012372	Abnormal eye morphology	-	ORPHA:424
7253	TSHR	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:90673
7253	TSHR	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:95713
7253	TSHR	HP:0001615	Hoarse cry	HP:0040282	ORPHA:95713
7253	TSHR	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	3/3	OMIM:275200
7253	TSHR	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	HP:0040281	ORPHA:90673
7253	TSHR	HP:0001649	Tachycardia	1/1	OMIM:609152
7253	TSHR	HP:0001649	Tachycardia	1/1	OMIM:603373
7253	TSHR	HP:0001662	Bradycardia	HP:0040283	ORPHA:90673
7253	TSHR	HP:0001622	Premature birth	1/1	OMIM:609152
7253	TSHR	HP:0000520	Proptosis	HP:0040283	ORPHA:99819
7253	TSHR	HP:0000520	Proptosis	0/1	OMIM:609152
7253	TSHR	HP:0001824	Weight loss	HP:0040281	ORPHA:99819
7253	TSHR	HP:0001824	Weight loss	HP:0040281	ORPHA:424
7258	TSPY1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:1646
7258	TSPY1	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:1646
7258	TSPY1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1646
7258	TSPY1	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:1646
7258	TSPY1	HP:0000798	Oligozoospermia	HP:0040282	ORPHA:1646
7258	TSPY1	HP:0003251	Male infertility	HP:0040281	ORPHA:1646
7259	TSPYL1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:168593
7259	TSPYL1	HP:0008733	Dysplastic testes	-	OMIM:608800
7259	TSPYL1	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:168593
7259	TSPYL1	HP:0008715	Testicular dysgenesis	-	OMIM:608800
7259	TSPYL1	HP:0008708	Partial development of the penile shaft	-	OMIM:608800
7259	TSPYL1	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:168593
7259	TSPYL1	HP:0000046	Small scrotum	HP:0040281	ORPHA:168593
7259	TSPYL1	HP:0000033	Ambiguous genitalia, male	-	OMIM:608800
7259	TSPYL1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:168593
7259	TSPYL1	HP:0000028	Cryptorchidism	-	OMIM:608800
7259	TSPYL1	HP:0008872	Feeding difficulties in infancy	21/21	OMIM:608800
7259	TSPYL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608800
7259	TSPYL1	HP:0001336	Myoclonus	HP:0040282	ORPHA:168593
7259	TSPYL1	HP:0001308	Tongue fasciculations	-	OMIM:608800
7259	TSPYL1	HP:0025431	Staccato cry	-	OMIM:608800
7259	TSPYL1	HP:0025425	Laryngospasm	-	OMIM:608800
7259	TSPYL1	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:168593
7259	TSPYL1	HP:0002793	Abnormal pattern of respiration	-	OMIM:608800
7259	TSPYL1	HP:0002020	Gastroesophageal reflux	-	OMIM:608800
7259	TSPYL1	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:168593
7259	TSPYL1	HP:0002045	Hypothermia	-	OMIM:608800
7259	TSPYL1	HP:0002045	Hypothermia	HP:0040281	ORPHA:168593
7259	TSPYL1	HP:0002104	Apnea	-	OMIM:608800
7259	TSPYL1	HP:0010535	Sleep apnea	HP:0040281	ORPHA:168593
7259	TSPYL1	HP:0002267	Exaggerated startle response	21/21	OMIM:608800
7259	TSPYL1	HP:0003593	Infantile onset	-	OMIM:608800
7259	TSPYL1	HP:0003623	Neonatal onset	-	OMIM:608800
7259	TSPYL1	HP:4000007	Bronchoconstriction	-	OMIM:608800
7259	TSPYL1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:168593
7259	TSPYL1	HP:0010307	Stridor	-	OMIM:608800
7259	TSPYL1	HP:0011675	Arrhythmia	HP:0040281	ORPHA:168593
7259	TSPYL1	HP:0001522	Death in infancy	HP:0040281	ORPHA:168593
7259	TSPYL1	HP:0001510	Growth delay	-	OMIM:608800
7259	TSPYL1	HP:0001510	Growth delay	HP:0040282	ORPHA:168593
7259	TSPYL1	HP:0006543	Cardiorespiratory arrest	-	OMIM:608800
7259	TSPYL1	HP:0001608	Abnormality of the voice	-	OMIM:608800
7259	TSPYL1	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:168593
7259	TSPYL1	HP:0001695	Cardiac arrest	HP:0040281	ORPHA:168593
7259	TSPYL1	HP:0001699	Sudden death	-	OMIM:608800
7259	TSPYL1	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040281	ORPHA:168593
7259	TSPYL1	HP:0001662	Bradycardia	-	OMIM:608800
7273	TTN	HP:0002460	Distal muscle weakness	-	OMIM:608807
7273	TTN	HP:0002460	Distal muscle weakness	HP:0040283	ORPHA:178464
7273	TTN	HP:0003789	Minicore myopathy	3/5	OMIM:611705
7273	TTN	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
7273	TTN	HP:0002421	Poor head control	HP:0040282	ORPHA:324604
7273	TTN	HP:0003749	Pelvic girdle muscle weakness	-	OMIM:603689
7273	TTN	HP:0003731	Quadriceps muscle weakness	-	OMIM:603689
7273	TTN	HP:0003731	Quadriceps muscle weakness	HP:0040283	ORPHA:609
7273	TTN	HP:0003722	Neck flexor weakness	-	OMIM:603689
7273	TTN	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:178464
7273	TTN	HP:0003701	Proximal muscle weakness	1/1	OMIM:608807
7273	TTN	HP:0003701	Proximal muscle weakness	-	OMIM:603689
7273	TTN	HP:0003701	Proximal muscle weakness	HP:0040283	ORPHA:178464
7273	TTN	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:169186
7273	TTN	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:324604
7273	TTN	HP:0003715	Myofibrillar myopathy	-	OMIM:603689
7273	TTN	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:324604
7273	TTN	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:169186
7273	TTN	HP:0100807	Long fingers	HP:0040283	ORPHA:169186
7273	TTN	HP:0001270	Motor delay	5/5	OMIM:611705
7273	TTN	HP:0001270	Motor delay	HP:0040282	ORPHA:169186
7273	TTN	HP:0001288	Gait disturbance	-	OMIM:603689
7273	TTN	HP:0001288	Gait disturbance	HP:0040282	ORPHA:178464
7273	TTN	HP:0001288	Gait disturbance	HP:0040282	ORPHA:609
7273	TTN	HP:0001284	Areflexia	HP:0040283	ORPHA:169186
7273	TTN	HP:0001279	Syncope	HP:0040282	ORPHA:334
7273	TTN	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:169186
7273	TTN	HP:0001260	Dysarthria	HP:0040283	ORPHA:169186
7273	TTN	HP:0002515	Waddling gait	HP:0040282	ORPHA:169186
7273	TTN	HP:0002527	Falls	HP:0040284	ORPHA:178464
7273	TTN	HP:0003829	Typified by incomplete penetrance	-	OMIM:600334
7273	TTN	HP:0003805	Rimmed vacuoles	-	OMIM:603689
7273	TTN	HP:0003805	Rimmed vacuoles	-	OMIM:600334
7273	TTN	HP:0003805	Rimmed vacuoles	HP:0040282	ORPHA:178464
7273	TTN	HP:0003805	Rimmed vacuoles	HP:0040282	ORPHA:609
7273	TTN	HP:0003803	Type 1 muscle fiber predominance	HP:0040283	ORPHA:169186
7273	TTN	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:178464
7273	TTN	HP:0008800	Limited hip movement	HP:0040282	ORPHA:178464
7273	TTN	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:324604
7273	TTN	HP:0001349	Facial diplegia	HP:0040283	ORPHA:169186
7273	TTN	HP:0000007	Autosomal recessive inheritance	-	OMIM:611705
7273	TTN	HP:0000007	Autosomal recessive inheritance	-	OMIM:608807
7273	TTN	HP:0000006	Autosomal dominant inheritance	-	OMIM:603689
7273	TTN	HP:0000006	Autosomal dominant inheritance	-	OMIM:604145
7273	TTN	HP:0000006	Autosomal dominant inheritance	-	OMIM:613765
7273	TTN	HP:0000006	Autosomal dominant inheritance	-	OMIM:600334
7273	TTN	HP:0002650	Scoliosis	1/5	OMIM:611705
7273	TTN	HP:0002650	Scoliosis	HP:0040282	ORPHA:324604
7273	TTN	HP:0000193	Bifid uvula	HP:0040283	ORPHA:169186
7273	TTN	HP:0000160	Narrow mouth	HP:0040283	ORPHA:169186
7273	TTN	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040283	ORPHA:609
7273	TTN	HP:0008981	Calf muscle hypertrophy	3/10	OMIM:603689
7273	TTN	HP:0008981	Calf muscle hypertrophy	HP:0040283	ORPHA:178464
7273	TTN	HP:0008981	Calf muscle hypertrophy	5/5	OMIM:611705
7273	TTN	HP:0008978	Necrotizing myopathy	HP:0040282	ORPHA:178464
7273	TTN	HP:0008959	Distal upper limb muscle weakness	HP:0040284	ORPHA:609
7273	TTN	HP:0008963	Tibialis muscle weakness	71/71	OMIM:600334
7273	TTN	HP:0008963	Tibialis muscle weakness	HP:0040283	ORPHA:178464
7273	TTN	HP:0002792	Reduced vital capacity	-	OMIM:603689
7273	TTN	HP:0002792	Reduced vital capacity	HP:0040282	ORPHA:178464
7273	TTN	HP:0031237	Internally nucleated skeletal muscle fibers	HP:0040282	ORPHA:178464
7273	TTN	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:178464
7273	TTN	HP:0005991	Limited neck flexion	HP:0040282	ORPHA:324604
7273	TTN	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:324604
7273	TTN	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:169186
7273	TTN	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:324604
7273	TTN	HP:0003323	Progressive muscle weakness	HP:0040282	ORPHA:169186
7273	TTN	HP:0003324	Generalized muscle weakness	5/5	OMIM:611705
7273	TTN	HP:0002094	Dyspnea	HP:0040282	ORPHA:178464
7273	TTN	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
7273	TTN	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:169186
7273	TTN	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:324604
7273	TTN	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:178464
7273	TTN	HP:0003391	Gowers sign	HP:0040282	ORPHA:169186
7273	TTN	HP:0003376	Steppage gait	-	OMIM:600334
7273	TTN	HP:0003376	Steppage gait	HP:0040282	ORPHA:609
7273	TTN	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
7273	TTN	HP:0011717	Atrioventricular reentrant tachycardia	1/5	OMIM:611705
7273	TTN	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:609
7273	TTN	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
7273	TTN	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:178464
7273	TTN	HP:0003458	EMG: myopathic abnormalities	-	OMIM:608807
7273	TTN	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:609
7273	TTN	HP:0003458	EMG: myopathic abnormalities	-	OMIM:600334
7273	TTN	HP:0004756	Ventricular tachycardia	-	OMIM:604145
7273	TTN	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040283	ORPHA:169186
7273	TTN	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:324604
7273	TTN	HP:0003596	Middle age onset	-	OMIM:604145
7273	TTN	HP:0003593	Infantile onset	3/5	OMIM:611705
7273	TTN	HP:0003581	Adult onset	1/1	OMIM:613765
7273	TTN	HP:0003581	Adult onset	21/21	OMIM:603689
7273	TTN	HP:0003581	Adult onset	71/71	OMIM:600334
7273	TTN	HP:0003555	Muscle fiber splitting	-	OMIM:603689
7273	TTN	HP:0003555	Muscle fiber splitting	HP:0040282	ORPHA:178464
7273	TTN	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:169186
7273	TTN	HP:0003551	Difficulty climbing stairs	1/1	OMIM:608807
7273	TTN	HP:0003551	Difficulty climbing stairs	5/5	OMIM:611705
7273	TTN	HP:0003547	Shoulder girdle muscle weakness	-	OMIM:603689
7273	TTN	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
7273	TTN	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:324604
7273	TTN	HP:0003560	Muscular dystrophy	-	OMIM:608807
7273	TTN	HP:0003560	Muscular dystrophy	-	OMIM:600334
7273	TTN	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:324604
7273	TTN	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:178464
7273	TTN	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:608807
7273	TTN	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:609
7273	TTN	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:603689
7273	TTN	HP:0003557	Increased variability in muscle fiber diameter	5/5	OMIM:611705
7273	TTN	HP:0100749	Chest pain	HP:0040282	ORPHA:334
7273	TTN	HP:0010628	Facial palsy	HP:0040282	ORPHA:169186
7273	TTN	HP:0003691	Scapular winging	HP:0040283	ORPHA:169186
7273	TTN	HP:0003691	Scapular winging	6/11	OMIM:603689
7273	TTN	HP:0002359	Frequent falls	-	OMIM:603689
7273	TTN	HP:0003676	Progressive	-	OMIM:608807
7273	TTN	HP:0003687	Centrally nucleated skeletal muscle fibers	HP:0040283	ORPHA:169186
7273	TTN	HP:0003687	Centrally nucleated skeletal muscle fibers	HP:0040282	ORPHA:609
7273	TTN	HP:0003687	Centrally nucleated skeletal muscle fibers	5/5	OMIM:611705
7273	TTN	HP:0003677	Slowly progressive	-	OMIM:603689
7273	TTN	HP:0003677	Slowly progressive	-	OMIM:600334
7273	TTN	HP:0002321	Vertigo	HP:0040282	ORPHA:334
7273	TTN	HP:0003623	Neonatal onset	2/5	OMIM:611705
7273	TTN	HP:0002312	Clumsiness	HP:0040283	ORPHA:609
7273	TTN	HP:0011399	Tibialis anterior muscle atrophy	71/71	OMIM:600334
7273	TTN	HP:0009077	Weakness of long finger extensor muscles	-	ORPHA:609
7273	TTN	HP:0001962	Palpitations	HP:0040282	ORPHA:334
7273	TTN	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:169186
7273	TTN	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
7273	TTN	HP:0009058	Increased muscle lipid content	HP:0040282	ORPHA:324604
7273	TTN	HP:0009058	Increased muscle lipid content	HP:0040282	ORPHA:609
7273	TTN	HP:0009046	Difficulty running	HP:0040282	ORPHA:169186
7273	TTN	HP:0009046	Difficulty running	5/5	OMIM:611705
7273	TTN	HP:0009049	Peroneal muscle atrophy	HP:0040282	ORPHA:609
7273	TTN	HP:0012664	Reduced left ventricular ejection fraction	-	OMIM:604145
7273	TTN	HP:0012666	Severely reduced left ventricular ejection fraction	4/4	OMIM:611705
7273	TTN	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:178464
7273	TTN	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:609
7273	TTN	HP:0009027	Foot dorsiflexor weakness	-	OMIM:603689
7273	TTN	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:169186
7273	TTN	HP:0004322	Short stature	HP:0040282	ORPHA:324604
7273	TTN	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:169186
7273	TTN	HP:0011463	Childhood onset	-	OMIM:608807
7273	TTN	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
7273	TTN	HP:0012764	Orthopnea	HP:0040282	ORPHA:178464
7273	TTN	HP:0009113	Diaphragmatic weakness	-	OMIM:603689
7273	TTN	HP:0003198	Myopathy	HP:0040283	ORPHA:154
7273	TTN	HP:0003198	Myopathy	HP:0040282	ORPHA:609
7273	TTN	HP:0003198	Myopathy	5/5	OMIM:611705
7273	TTN	HP:0003236	Elevated circulating creatine kinase concentration	11/11	OMIM:608807
7273	TTN	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:603689
7273	TTN	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	OMIM:611705
7273	TTN	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:178464
7273	TTN	HP:0003202	Skeletal muscle atrophy	-	OMIM:608807
7273	TTN	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:178464
7273	TTN	HP:0034392	Joint contracture	5/5	OMIM:611705
7273	TTN	HP:0003273	Hip contracture	HP:0040283	ORPHA:169186
7273	TTN	HP:0000969	Edema	HP:0040282	ORPHA:154
7273	TTN	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:324604
7273	TTN	HP:0100293	Hypertrophied muscle fibers	HP:0040283	ORPHA:178464
7273	TTN	HP:0100297	Increased endomysial connective tissue	2/5	OMIM:611705
7273	TTN	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
7273	TTN	HP:0011675	Arrhythmia	4/4	OMIM:611705
7273	TTN	HP:0000278	Retrognathia	HP:0040282	ORPHA:169186
7273	TTN	HP:0000276	Long face	HP:0040283	ORPHA:169186
7273	TTN	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
7273	TTN	HP:0005110	Atrial fibrillation	-	OMIM:604145
7273	TTN	HP:0030059	Mitochondrial depletion	-	OMIM:611705
7273	TTN	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:324604
7273	TTN	HP:0030091	Absent muscle fiber merosin	-	ORPHA:324604
7273	TTN	HP:0002878	Respiratory failure	-	ORPHA:609
7273	TTN	HP:0002878	Respiratory failure	-	OMIM:603689
7273	TTN	HP:0000218	High palate	HP:0040282	ORPHA:324604
7273	TTN	HP:0000218	High palate	HP:0040282	ORPHA:169186
7273	TTN	HP:0002877	Nocturnal hypoventilation	HP:0040282	ORPHA:324604
7273	TTN	HP:0002877	Nocturnal hypoventilation	4/11	OMIM:603689
7273	TTN	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
7273	TTN	HP:0001508	Failure to thrive	HP:0040282	ORPHA:324604
7273	TTN	HP:0031374	Ankle weakness	HP:0040282	ORPHA:609
7273	TTN	HP:0012378	Fatigue	HP:0040282	ORPHA:154
7273	TTN	HP:0012378	Fatigue	HP:0040282	ORPHA:334
7273	TTN	HP:0001618	Dysphonia	HP:0040283	ORPHA:169186
7273	TTN	HP:0001667	Right ventricular hypertrophy	HP:0040283	ORPHA:324604
7273	TTN	HP:0001678	Atrioventricular block	-	OMIM:604145
7273	TTN	HP:0001678	Atrioventricular block	1/5	OMIM:611705
7273	TTN	HP:0001645	Sudden cardiac death	4/5	OMIM:611705
7273	TTN	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
7273	TTN	HP:0001644	Dilated cardiomyopathy	5/5	OMIM:611705
7273	TTN	HP:0001644	Dilated cardiomyopathy	-	OMIM:604145
7273	TTN	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
7273	TTN	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:169186
7273	TTN	HP:0001620	Abnormally high-pitched voice	HP:0040282	ORPHA:324604
7273	TTN	HP:0000308	Microretrognathia	HP:0040283	ORPHA:324604
7273	TTN	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:613765
7273	TTN	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
7273	TTN	HP:0001635	Congestive heart failure	1/4	OMIM:611705
7273	TTN	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:324604
7273	TTN	HP:0001635	Congestive heart failure	-	OMIM:604145
7273	TTN	HP:0001638	Cardiomyopathy	0/1	OMIM:608807
7273	TTN	HP:0001638	Cardiomyopathy	-	ORPHA:609
7273	TTN	HP:0001638	Cardiomyopathy	0/71	OMIM:600334
7273	TTN	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:324604
7273	TTN	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:324604
7273	TTN	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:324604
7273	TTN	HP:0030319	Weakness of facial musculature	5/5	OMIM:611705
7273	TTN	HP:0006699	Premature atrial contractions	-	OMIM:604145
7273	TTN	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
7273	TTN	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
7273	TTN	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
7273	TTN	HP:0001708	Right ventricular failure	HP:0040283	ORPHA:324604
7273	TTN	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:169186
7273	TTN	HP:0001771	Achilles tendon contracture	3/11	OMIM:603689
7273	TTN	HP:0001763	Pes planus	HP:0040283	ORPHA:324604
7273	TTN	HP:0000411	Protruding ear	HP:0040283	ORPHA:169186
7273	TTN	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:169186
7273	TTN	HP:0001761	Pes cavus	HP:0040283	ORPHA:169186
7273	TTN	HP:0025708	Early young adult onset	1/1	OMIM:608807
7273	TTN	HP:0000508	Ptosis	5/5	OMIM:611705
7273	TTN	HP:0000597	Ophthalmoparesis	HP:0040283	ORPHA:169186
7273	TTN	HP:0012548	Fatty replacement of skeletal muscle	1/1	OMIM:608807
7274	TTPA	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
7274	TTPA	HP:0001114	Xanthelasma	-	OMIM:277460
7274	TTPA	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:96
7274	TTPA	HP:0010874	Tendon xanthomatosis	-	OMIM:277460
7274	TTPA	HP:0002403	Positive Romberg sign	HP:0040283	ORPHA:96
7274	TTPA	HP:0002403	Positive Romberg sign	1/1	OMIM:277460
7274	TTPA	HP:0001276	Hypertonia	HP:0040283	ORPHA:96
7274	TTPA	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:96
7274	TTPA	HP:0001272	Cerebellar atrophy	1/1	OMIM:277460
7274	TTPA	HP:0001268	Mental deterioration	HP:0040283	ORPHA:96
7274	TTPA	HP:0002599	Head titubation	HP:0040282	ORPHA:96
7274	TTPA	HP:0001288	Gait disturbance	HP:0040282	ORPHA:96
7274	TTPA	HP:0001288	Gait disturbance	1/1	OMIM:277460
7274	TTPA	HP:0001284	Areflexia	HP:0040281	ORPHA:96
7274	TTPA	HP:0001284	Areflexia	-	OMIM:277460
7274	TTPA	HP:0001251	Ataxia	HP:0040281	ORPHA:96
7274	TTPA	HP:0001251	Ataxia	1/1	OMIM:277460
7274	TTPA	HP:0001260	Dysarthria	HP:0040282	ORPHA:96
7274	TTPA	HP:0001260	Dysarthria	1/1	OMIM:277460
7274	TTPA	HP:0033687	Short term memory impairment	1/1	OMIM:277460
7274	TTPA	HP:0001332	Dystonia	HP:0040283	ORPHA:96
7274	TTPA	HP:0001332	Dystonia	1/1	OMIM:277460
7274	TTPA	HP:0001324	Muscle weakness	HP:0040281	ORPHA:96
7274	TTPA	HP:0000012	Urinary urgency	HP:0040283	ORPHA:96
7274	TTPA	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
7274	TTPA	HP:0000007	Autosomal recessive inheritance	-	OMIM:277460
7274	TTPA	HP:0001337	Tremor	HP:0040283	ORPHA:96
7274	TTPA	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
7274	TTPA	HP:0001310	Dysmetria	HP:0040282	ORPHA:96
7274	TTPA	HP:0001310	Dysmetria	1/1	OMIM:277460
7274	TTPA	HP:0002650	Scoliosis	HP:0040282	ORPHA:96
7274	TTPA	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
7274	TTPA	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
7274	TTPA	HP:0002075	Dysdiadochokinesis	1/1	OMIM:277460
7274	TTPA	HP:0002075	Dysdiadochokinesis	HP:0040282	ORPHA:96
7274	TTPA	HP:0002073	Progressive cerebellar ataxia	1/1	OMIM:277460
7274	TTPA	HP:0100513	Decreased circulating vitamin E concentration	HP:0040281	ORPHA:96
7274	TTPA	HP:0100513	Decreased circulating vitamin E concentration	2/2	OMIM:277460
7274	TTPA	HP:0002155	Hypertriglyceridemia	-	OMIM:277460
7274	TTPA	HP:0003487	Babinski sign	HP:0040281	ORPHA:96
7274	TTPA	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:96
7274	TTPA	HP:0002376	Developmental regression	HP:0040283	ORPHA:96
7274	TTPA	HP:0010831	Impaired proprioception	HP:0040282	ORPHA:96
7274	TTPA	HP:0010831	Impaired proprioception	1/1	OMIM:277460
7274	TTPA	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:96
7274	TTPA	HP:0002312	Clumsiness	HP:0040282	ORPHA:96
7274	TTPA	HP:0002312	Clumsiness	1/1	OMIM:277460
7274	TTPA	HP:0003621	Juvenile onset	8/19	OMIM:180100
7274	TTPA	HP:0003621	Juvenile onset	2/2	OMIM:277460
7274	TTPA	HP:0000639	Nystagmus	HP:0040282	ORPHA:96
7274	TTPA	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:96
7274	TTPA	HP:0000662	Nyctalopia	HP:0040282	ORPHA:96
7274	TTPA	HP:0000662	Nyctalopia	26/28	OMIM:180100
7274	TTPA	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:96
7274	TTPA	HP:0000763	Sensory neuropathy	HP:0040282	ORPHA:96
7274	TTPA	HP:0011463	Childhood onset	3/19	OMIM:180100
7274	TTPA	HP:0011462	Young adult onset	8/19	OMIM:180100
7274	TTPA	HP:0003124	Hypercholesterolemia	-	OMIM:277460
7274	TTPA	HP:0003141	Increased LDL cholesterol concentration	-	OMIM:277460
7274	TTPA	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:96
7274	TTPA	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:96
7274	TTPA	HP:0100291	Delayed somatosensory central conduction time	1/1	OMIM:277460
7274	TTPA	HP:0011675	Arrhythmia	HP:0040283	ORPHA:96
7274	TTPA	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:96
7274	TTPA	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
7274	TTPA	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
7274	TTPA	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:96
7274	TTPA	HP:0030223	Perseverative thought	1/1	OMIM:277460
7274	TTPA	HP:0001761	Pes cavus	HP:0040282	ORPHA:96
7274	TTPA	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
7274	TTPA	HP:0000505	Visual impairment	HP:0040283	ORPHA:96
7274	TTPA	HP:0000580	Pigmentary retinopathy	HP:0040284	ORPHA:96
7274	TTPA	HP:0000575	Scotoma	5/18	OMIM:180100
7274	TTPA	HP:0000543	Optic disc pallor	1/1	OMIM:180100
7274	TTPA	HP:0000545	Myopia	-	OMIM:180100
7275	TUB	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
7275	TUB	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
7275	TUB	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
7275	TUB	HP:0000007	Autosomal recessive inheritance	-	OMIM:616188
7275	TUB	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
7275	TUB	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
7275	TUB	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
7275	TUB	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
7275	TUB	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
7275	TUB	HP:0007663	Reduced visual acuity	1/1	OMIM:616188
7275	TUB	HP:0500087	Peripapillary atrophy	1/1	OMIM:616188
7275	TUB	HP:0032027	Retinal dots	1/1	OMIM:616188
7275	TUB	HP:0003621	Juvenile onset	8/19	OMIM:180100
7275	TUB	HP:0003621	Juvenile onset	1/1	OMIM:616188
7275	TUB	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
7275	TUB	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
7275	TUB	HP:0000618	Blindness	HP:0040281	ORPHA:791
7275	TUB	HP:0000613	Photophobia	HP:0040281	ORPHA:791
7275	TUB	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
7275	TUB	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
7275	TUB	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
7275	TUB	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
7275	TUB	HP:0000662	Nyctalopia	26/28	OMIM:180100
7275	TUB	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
7275	TUB	HP:0011463	Childhood onset	3/19	OMIM:180100
7275	TUB	HP:0011462	Young adult onset	8/19	OMIM:180100
7275	TUB	HP:0030786	Photopsia	HP:0040283	ORPHA:791
7275	TUB	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
7275	TUB	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
7275	TUB	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
7275	TUB	HP:0007722	Retinal pigment epithelial atrophy	1/1	OMIM:616188
7275	TUB	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
7275	TUB	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
7275	TUB	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
7275	TUB	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
7275	TUB	HP:0001513	Obesity	1/1	OMIM:616188
7275	TUB	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
7275	TUB	HP:0007843	Attenuation of retinal blood vessels	1/1	OMIM:616188
7275	TUB	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
7275	TUB	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
7275	TUB	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
7275	TUB	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
7275	TUB	HP:0000483	Astigmatism	1/1	OMIM:616188
7275	TUB	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
7275	TUB	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
7275	TUB	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
7275	TUB	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
7275	TUB	HP:0000505	Visual impairment	1/1	OMIM:616188
7275	TUB	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
7275	TUB	HP:0000575	Scotoma	5/18	OMIM:180100
7275	TUB	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
7275	TUB	HP:0000556	Retinal dystrophy	1/1	OMIM:616188
7275	TUB	HP:0000541	Retinal detachment	1/1	OMIM:616188
7275	TUB	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
7275	TUB	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
7275	TUB	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
7275	TUB	HP:0000543	Optic disc pallor	1/1	OMIM:180100
7275	TUB	HP:0000545	Myopia	-	OMIM:180100
7275	TUB	HP:0000545	Myopia	1/1	OMIM:616188
7276	TTR	HP:0410174	Increased circulating troponin T concentration	HP:0040281	ORPHA:85451
7276	TTR	HP:0007256	Abnormal pyramidal sign	2/4	OMIM:105210
7276	TTR	HP:0002403	Positive Romberg sign	1/4	OMIM:105210
7276	TTR	HP:0002401	Stroke-like episode	-	OMIM:105210
7276	TTR	HP:0001297	Stroke	HP:0040283	ORPHA:85451
7276	TTR	HP:0001271	Polyneuropathy	HP:0040281	ORPHA:85447
7276	TTR	HP:0001271	Polyneuropathy	HP:0040284	ORPHA:85451
7276	TTR	HP:0001271	Polyneuropathy	-	OMIM:105210
7276	TTR	HP:0001269	Hemiparesis	-	OMIM:105210
7276	TTR	HP:0001289	Confusion	2/4	OMIM:105210
7276	TTR	HP:0100832	Vitreous floaters	HP:0040282	ORPHA:85447
7276	TTR	HP:0001250	Seizure	-	OMIM:105210
7276	TTR	HP:0001251	Ataxia	2/4	OMIM:105210
7276	TTR	HP:0001265	Hyporeflexia	-	OMIM:105210
7276	TTR	HP:0001260	Dysarthria	-	OMIM:105210
7276	TTR	HP:0001257	Spasticity	-	OMIM:105210
7276	TTR	HP:0002572	Episodic vomiting	2/4	OMIM:105210
7276	TTR	HP:0008765	Auditory hallucination	1/4	OMIM:105210
7276	TTR	HP:0000020	Urinary incontinence	-	OMIM:105210
7276	TTR	HP:0001347	Hyperreflexia	2/4	OMIM:105210
7276	TTR	HP:0031185	Increased circulating NT-proBNP concentration	HP:0040281	ORPHA:85451
7276	TTR	HP:0001324	Muscle weakness	-	OMIM:105210
7276	TTR	HP:0001337	Tremor	-	OMIM:105210
7276	TTR	HP:0000006	Autosomal dominant inheritance	-	OMIM:145680
7276	TTR	HP:0000006	Autosomal dominant inheritance	-	OMIM:105210
7276	TTR	HP:0000006	Autosomal dominant inheritance	-	OMIM:115430
7276	TTR	HP:0012185	Constrictive median neuropathy	-	OMIM:115430
7276	TTR	HP:0012185	Constrictive median neuropathy	-	OMIM:105210
7276	TTR	HP:0012185	Constrictive median neuropathy	HP:0040282	ORPHA:85447
7276	TTR	HP:0012185	Constrictive median neuropathy	HP:0040283	ORPHA:85451
7276	TTR	HP:0000112	Nephropathy	HP:0040281	ORPHA:85447
7276	TTR	HP:0002019	Constipation	2/4	OMIM:105210
7276	TTR	HP:0002019	Constipation	HP:0040282	ORPHA:85447
7276	TTR	HP:0002014	Diarrhea	-	OMIM:105210
7276	TTR	HP:0002014	Diarrhea	HP:0040282	ORPHA:85447
7276	TTR	HP:0002080	Intention tremor	1/4	OMIM:105210
7276	TTR	HP:0100550	Tendon rupture	HP:0040283	ORPHA:85451
7276	TTR	HP:0002078	Truncal ataxia	1/4	OMIM:105210
7276	TTR	HP:0002070	Limb ataxia	1/4	OMIM:105210
7276	TTR	HP:0100598	Pulmonary edema	1/4	OMIM:105210
7276	TTR	HP:0003477	Peripheral axonal neuropathy	-	OMIM:105210
7276	TTR	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:85451
7276	TTR	HP:0008247	Euthyroid hyperthyroxinemia	-	OMIM:145680
7276	TTR	HP:0010544	Vertical nystagmus	1/4	OMIM:105210
7276	TTR	HP:0010550	Paraplegia	-	OMIM:105210
7276	TTR	HP:0003581	Adult onset	4/4	OMIM:105210
7276	TTR	HP:0008326	Reduced circulating vitamin B6 circulating	-	OMIM:115430
7276	TTR	HP:0032070	Leptomeningeal enhancement	-	OMIM:105210
7276	TTR	HP:0003676	Progressive	-	OMIM:105210
7276	TTR	HP:0002315	Headache	-	OMIM:105210
7276	TTR	HP:0002313	Spastic paraparesis	1/4	OMIM:105210
7276	TTR	HP:0009830	Peripheral neuropathy	-	OMIM:105210
7276	TTR	HP:0009830	Peripheral neuropathy	HP:0040284	ORPHA:85451
7276	TTR	HP:0009830	Peripheral neuropathy	-	OMIM:115430
7276	TTR	HP:0025028	Abnormal enteric nervous system morphology	HP:0040283	ORPHA:85451
7276	TTR	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	-	OMIM:105210
7276	TTR	HP:0000639	Nystagmus	-	OMIM:105210
7276	TTR	HP:0000651	Diplopia	1/4	OMIM:105210
7276	TTR	HP:0001907	Thromboembolism	HP:0040283	ORPHA:85451
7276	TTR	HP:0001903	Anemia	HP:0040283	ORPHA:85451
7276	TTR	HP:0012664	Reduced left ventricular ejection fraction	HP:0040282	ORPHA:85451
7276	TTR	HP:0000666	Horizontal nystagmus	1/4	OMIM:105210
7276	TTR	HP:0000802	Impotence	-	OMIM:105210
7276	TTR	HP:0000802	Impotence	HP:0040282	ORPHA:85447
7276	TTR	HP:0000738	Hallucinations	1/4	OMIM:105210
7276	TTR	HP:0000739	Anxiety	1/4	OMIM:105210
7276	TTR	HP:0000726	Dementia	-	OMIM:105210
7276	TTR	HP:0011468	Facial tics	1/4	OMIM:105210
7276	TTR	HP:0003115	Abnormal EKG	HP:0040281	ORPHA:85451
7276	TTR	HP:0030843	Cardiac amyloidosis	HP:0040281	ORPHA:85451
7276	TTR	HP:0011675	Arrhythmia	HP:0040282	ORPHA:85447
7276	TTR	HP:0011675	Arrhythmia	HP:0040282	ORPHA:85451
7276	TTR	HP:0012276	Digital flexor tenosynovitis	-	OMIM:115430
7276	TTR	HP:0012211	Abnormal renal physiology	HP:0040282	ORPHA:85447
7276	TTR	HP:0007841	Amyloid deposition in the vitreous humor	-	OMIM:105210
7276	TTR	HP:0011034	Amyloidosis	4/4	OMIM:105210
7276	TTR	HP:0002922	Increased CSF protein concentration	4/4	OMIM:105210
7276	TTR	HP:0005150	Abnormal atrioventricular conduction	HP:0040282	ORPHA:85451
7276	TTR	HP:0000365	Hearing impairment	-	OMIM:105210
7276	TTR	HP:0001692	Atrial arrhythmia	HP:0040281	ORPHA:85451
7276	TTR	HP:0011003	High myopia	1/4	OMIM:105210
7276	TTR	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	ORPHA:85447
7276	TTR	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:85451
7276	TTR	HP:0012332	Abnormal autonomic nervous system physiology	-	OMIM:105210
7276	TTR	HP:0001681	Angina pectoris	HP:0040283	ORPHA:85451
7276	TTR	HP:0001678	Atrioventricular block	HP:0040282	ORPHA:85447
7276	TTR	HP:0001650	Aortic valve stenosis	HP:0040284	ORPHA:85451
7276	TTR	HP:0001640	Cardiomegaly	-	OMIM:105210
7276	TTR	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:85447
7276	TTR	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:85451
7276	TTR	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:85451
7276	TTR	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:85451
7276	TTR	HP:0001638	Cardiomyopathy	-	OMIM:105210
7276	TTR	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:85447
7276	TTR	HP:0001723	Restrictive cardiomyopathy	HP:0040282	ORPHA:85451
7276	TTR	HP:0000407	Sensorineural hearing impairment	2/4	OMIM:105210
7276	TTR	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:85451
7276	TTR	HP:0001824	Weight loss	HP:0040282	ORPHA:85447
7276	TTR	HP:0000508	Ptosis	1/4	OMIM:105210
7276	TTR	HP:0000505	Visual impairment	-	OMIM:105210
7277	TUBA4A	HP:0007354	Amyotrophic lateral sclerosis	8/8	OMIM:616208
7277	TUBA4A	HP:0000006	Autosomal dominant inheritance	-	OMIM:616208
7277	TUBA4A	HP:0002145	Frontotemporal dementia	2/8	OMIM:616208
7277	TUBA4A	HP:0003596	Middle age onset	3/8	OMIM:616208
7277	TUBA4A	HP:0003584	Late onset	5/8	OMIM:616208
7280	TUBB2A	HP:0009879	Simplified gyral pattern	1/2	OMIM:615763
7280	TUBB2A	HP:0001290	Generalized hypotonia	1/2	OMIM:615763
7280	TUBB2A	HP:0001250	Seizure	2/2	OMIM:615763
7280	TUBB2A	HP:0001252	Hypotonia	1/2	OMIM:615763
7280	TUBB2A	HP:0002539	Cortical dysplasia	-	OMIM:615763
7280	TUBB2A	HP:0002521	Hypsarrhythmia	1/2	OMIM:615763
7280	TUBB2A	HP:0001344	Absent speech	1/2	OMIM:615763
7280	TUBB2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:615763
7280	TUBB2A	HP:0001320	Cerebellar vermis hypoplasia	1/2	OMIM:615763
7280	TUBB2A	HP:0002079	Hypoplasia of the corpus callosum	1/2	OMIM:615763
7280	TUBB2A	HP:0002119	Ventriculomegaly	1/2	OMIM:615763
7280	TUBB2A	HP:0003593	Infantile onset	2/2	OMIM:615763
7280	TUBB2A	HP:0002365	Hypoplasia of the brainstem	1/2	OMIM:615763
7280	TUBB2A	HP:0010841	Multifocal epileptiform discharges	1/2	OMIM:615763
7280	TUBB2A	HP:0011344	Severe global developmental delay	2/2	OMIM:615763
7280	TUBB2A	HP:0034295	Reduced cerebral white matter volume	1/2	OMIM:615763
7280	TUBB2A	HP:0012469	Infantile spasms	1/2	OMIM:615763
7280	TUBB2A	HP:0005445	Enlarged posterior fossa	1/2	OMIM:615763
7283	TUBG1	HP:0001270	Motor delay	HP:0040282	ORPHA:261183
7283	TUBG1	HP:0001250	Seizure	HP:0040283	ORPHA:261183
7283	TUBG1	HP:0001250	Seizure	2/3	OMIM:615412
7283	TUBG1	HP:0001251	Ataxia	HP:0040283	ORPHA:261183
7283	TUBG1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:261183
7283	TUBG1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:261183
7283	TUBG1	HP:0001263	Global developmental delay	3/3	OMIM:615412
7283	TUBG1	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:261183
7283	TUBG1	HP:0002510	Spastic tetraplegia	2/3	OMIM:615412
7283	TUBG1	HP:0033725	Thin corpus callosum	1/3	OMIM:615412
7283	TUBG1	HP:0032409	Subcortical band heterotopia	1/3	OMIM:615412
7283	TUBG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615412
7283	TUBG1	HP:0001302	Pachygyria	3/3	OMIM:615412
7283	TUBG1	HP:0000174	Abnormal palate morphology	HP:0040282	ORPHA:261183
7283	TUBG1	HP:0002198	Dilated fourth ventricle	HP:0040284	ORPHA:261183
7283	TUBG1	HP:0002172	Postural instability	HP:0040283	ORPHA:261183
7283	TUBG1	HP:0010522	Dyslexia	HP:0040282	ORPHA:261183
7283	TUBG1	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:261183
7283	TUBG1	HP:0100753	Schizophrenia	HP:0040283	ORPHA:261183
7283	TUBG1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:261183
7283	TUBG1	HP:0007074	Thick corpus callosum	2/3	OMIM:615412
7283	TUBG1	HP:0002370	Poor coordination	HP:0040283	ORPHA:261183
7283	TUBG1	HP:0002354	Memory impairment	HP:0040282	ORPHA:261183
7283	TUBG1	HP:0031882	Agyria	2/3	OMIM:615412
7283	TUBG1	HP:0006891	Thick cerebral cortex	HP:0040282	ORPHA:261183
7283	TUBG1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:261183
7283	TUBG1	HP:0000736	Short attention span	HP:0040283	ORPHA:261183
7283	TUBG1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:261183
7283	TUBG1	HP:0000717	Autism	HP:0040283	ORPHA:261183
7283	TUBG1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:261183
7283	TUBG1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:261183
7283	TUBG1	HP:0000252	Microcephaly	HP:0040283	ORPHA:261183
7283	TUBG1	HP:0000252	Microcephaly	2/3	OMIM:615412
7283	TUBG1	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:261183
7283	TUBG1	HP:0005160	Total anomalous pulmonary venous return	HP:0040284	ORPHA:261183
7283	TUBG1	HP:0000337	Broad forehead	HP:0040283	ORPHA:261183
7283	TUBG1	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:261183
7283	TUBG1	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:261183
7283	TUBG1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:261183
7283	TUBG1	HP:0001636	Tetralogy of Fallot	HP:0040284	ORPHA:261183
7283	TUBG1	HP:0001631	Atrial septal defect	HP:0040284	ORPHA:261183
7283	TUBG1	HP:0012469	Infantile spasms	1/3	OMIM:615412
7283	TUBG1	HP:0000518	Cataract	1/3	OMIM:615412
7284	TUFM	HP:0002415	Leukodystrophy	-	OMIM:610678
7284	TUFM	HP:0001298	Encephalopathy	-	OMIM:610678
7284	TUFM	HP:0001257	Spasticity	-	OMIM:610678
7284	TUFM	HP:0000007	Autosomal recessive inheritance	-	OMIM:610678
7284	TUFM	HP:0001319	Neonatal hypotonia	-	OMIM:610678
7284	TUFM	HP:0002151	Increased circulating lactate concentration	-	OMIM:610678
7284	TUFM	HP:0002126	Polymicrogyria	-	OMIM:610678
7284	TUFM	HP:0002179	Opisthotonus	-	OMIM:610678
7284	TUFM	HP:0003593	Infantile onset	-	OMIM:610678
7284	TUFM	HP:0002240	Hepatomegaly	-	OMIM:610678
7284	TUFM	HP:0002376	Developmental regression	-	OMIM:610678
7284	TUFM	HP:0000639	Nystagmus	-	OMIM:610678
7284	TUFM	HP:0001942	Metabolic acidosis	-	OMIM:610678
7284	TUFM	HP:0001987	Hyperammonemia	-	OMIM:610678
7284	TUFM	HP:0003128	Lactic acidosis	-	OMIM:610678
7284	TUFM	HP:0000252	Microcephaly	-	OMIM:610678
7284	TUFM	HP:0002878	Respiratory failure	-	OMIM:610678
7284	TUFM	HP:0001522	Death in infancy	-	OMIM:610678
7284	TUFM	HP:0001511	Intrauterine growth retardation	-	OMIM:610678
7286	TUFT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620415
7286	TUFT1	HP:0003593	Infantile onset	2/9	OMIM:620415
7286	TUFT1	HP:0003577	Congenital onset	7/9	OMIM:620415
7286	TUFT1	HP:0002224	Woolly hair	9/9	OMIM:620415
7286	TUFT1	HP:0100792	Acantholysis	2/2	OMIM:620415
7286	TUFT1	HP:0001030	Fragile skin	8/9	OMIM:620415
7286	TUFT1	HP:0032152	Keratosis pilaris	6/9	OMIM:620415
7286	TUFT1	HP:0000982	Palmoplantar keratoderma	0/9	OMIM:620415
7287	TULP1	HP:0001133	Constriction of peripheral visual field	-	OMIM:600132
7287	TULP1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
7287	TULP1	HP:0001133	Constriction of peripheral visual field	7/7	OMIM:613843
7287	TULP1	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
7287	TULP1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
7287	TULP1	HP:0001270	Motor delay	HP:0040283	ORPHA:65
7287	TULP1	HP:0001250	Seizure	HP:0040282	ORPHA:65
7287	TULP1	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
7287	TULP1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
7287	TULP1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
7287	TULP1	HP:0012047	Hemeralopia	7/7	OMIM:613843
7287	TULP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:600132
7287	TULP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
7287	TULP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613843
7287	TULP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
7287	TULP1	HP:0001483	Eye poking	HP:0040282	ORPHA:65
7287	TULP1	HP:0001483	Eye poking	0/7	OMIM:613843
7287	TULP1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
7287	TULP1	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
7287	TULP1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
7287	TULP1	HP:0007663	Reduced visual acuity	5/5	OMIM:600132
7287	TULP1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
7287	TULP1	HP:0007663	Reduced visual acuity	7/7	OMIM:613843
7287	TULP1	HP:0500087	Peripapillary atrophy	3/7	OMIM:613843
7287	TULP1	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
7287	TULP1	HP:0003593	Infantile onset	5/7	OMIM:613843
7287	TULP1	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
7287	TULP1	HP:0003577	Congenital onset	2/7	OMIM:613843
7287	TULP1	HP:0003621	Juvenile onset	8/19	OMIM:180100
7287	TULP1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
7287	TULP1	HP:0000639	Nystagmus	5/5	OMIM:600132
7287	TULP1	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
7287	TULP1	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
7287	TULP1	HP:0000639	Nystagmus	7/7	OMIM:613843
7287	TULP1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
7287	TULP1	HP:0000618	Blindness	HP:0040281	ORPHA:791
7287	TULP1	HP:0000613	Photophobia	HP:0040282	ORPHA:65
7287	TULP1	HP:0000613	Photophobia	HP:0040281	ORPHA:791
7287	TULP1	HP:0000613	Photophobia	0/7	OMIM:613843
7287	TULP1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
7287	TULP1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
7287	TULP1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
7287	TULP1	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
7287	TULP1	HP:0000662	Nyctalopia	5/5	OMIM:600132
7287	TULP1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
7287	TULP1	HP:0000662	Nyctalopia	26/28	OMIM:180100
7287	TULP1	HP:0000662	Nyctalopia	7/7	OMIM:613843
7287	TULP1	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
7287	TULP1	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
7287	TULP1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
7287	TULP1	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
7287	TULP1	HP:0011463	Childhood onset	3/19	OMIM:180100
7287	TULP1	HP:0011462	Young adult onset	8/19	OMIM:180100
7287	TULP1	HP:0030786	Photopsia	HP:0040283	ORPHA:791
7287	TULP1	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
7287	TULP1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
7287	TULP1	HP:0034362	Dull foveal reflex	3/7	OMIM:613843
7287	TULP1	HP:0008043	Retinal arteriolar constriction	-	OMIM:600132
7287	TULP1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
7287	TULP1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
7287	TULP1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
7287	TULP1	HP:0007787	Posterior subcapsular cataract	5/5	OMIM:600132
7287	TULP1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
7287	TULP1	HP:0007787	Posterior subcapsular cataract	3/7	OMIM:613843
7287	TULP1	HP:0007772	Impaired smooth pursuit	-	OMIM:613843
7287	TULP1	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:600132
7287	TULP1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
7287	TULP1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
7287	TULP1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
7287	TULP1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
7287	TULP1	HP:0007843	Attenuation of retinal blood vessels	6/7	OMIM:613843
7287	TULP1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
7287	TULP1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
7287	TULP1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
7287	TULP1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
7287	TULP1	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
7287	TULP1	HP:0030211	Slow pupillary light response	7/7	OMIM:613843
7287	TULP1	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
7287	TULP1	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
7287	TULP1	HP:0000518	Cataract	HP:0040282	ORPHA:65
7287	TULP1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
7287	TULP1	HP:0000510	Rod-cone dystrophy	5/5	OMIM:600132
7287	TULP1	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
7287	TULP1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
7287	TULP1	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
7287	TULP1	HP:0000505	Visual impairment	-	OMIM:613843
7287	TULP1	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
7287	TULP1	HP:0000580	Pigmentary retinopathy	-	OMIM:613843
7287	TULP1	HP:0000575	Scotoma	5/18	OMIM:180100
7287	TULP1	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
7287	TULP1	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
7287	TULP1	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
7287	TULP1	HP:0000540	Hypermetropia	1/7	OMIM:613843
7287	TULP1	HP:0000550	Undetectable electroretinogram	5/5	OMIM:600132
7287	TULP1	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
7287	TULP1	HP:0000551	Color vision defect	7/7	OMIM:613843
7287	TULP1	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
7287	TULP1	HP:0000546	Retinal degeneration	-	OMIM:613843
7287	TULP1	HP:0000543	Optic disc pallor	-	OMIM:600132
7287	TULP1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
7287	TULP1	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
7287	TULP1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
7287	TULP1	HP:0000543	Optic disc pallor	2/7	OMIM:613843
7287	TULP1	HP:0000545	Myopia	-	OMIM:180100
7287	TULP1	HP:0000545	Myopia	6/7	OMIM:613843
7289	TULP3	HP:0002480	Hepatic encephalopathy	2/15	OMIM:619902
7289	TULP3	HP:0001394	Cirrhosis	7/15	OMIM:619902
7289	TULP3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619902
7289	TULP3	HP:0032622	Tubular luminal dilatation	1/1	OMIM:619902
7289	TULP3	HP:0000107	Renal cyst	7/14	OMIM:619902
7289	TULP3	HP:0001433	Hepatosplenomegaly	9/15	OMIM:619902
7289	TULP3	HP:0000105	Enlarged kidney	4/14	OMIM:619902
7289	TULP3	HP:0001409	Portal hypertension	10/15	OMIM:619902
7289	TULP3	HP:0001402	Hepatocellular carcinoma	1/15	OMIM:619902
7289	TULP3	HP:0004719	Hyperechogenic kidneys	6/14	OMIM:619902
7289	TULP3	HP:0003593	Infantile onset	1/15	OMIM:619902
7289	TULP3	HP:0003621	Juvenile onset	2/15	OMIM:619902
7289	TULP3	HP:0005565	Reduced renal corticomedullary differentiation	3/14	OMIM:619902
7289	TULP3	HP:0001971	Hypersplenism	2/15	OMIM:619902
7289	TULP3	HP:0011463	Childhood onset	5/15	OMIM:619902
7289	TULP3	HP:0011462	Young adult onset	7/15	OMIM:619902
7289	TULP3	HP:0012852	Hepatic bridging fibrosis	5/15	OMIM:619902
7289	TULP3	HP:0000952	Jaundice	-	OMIM:619902
7289	TULP3	HP:0002910	Elevated circulating hepatic transaminase concentration	10/15	OMIM:619902
7289	TULP3	HP:0001639	Hypertrophic cardiomyopathy	3/15	OMIM:619902
7289	TULP3	HP:0032948	Renal interstitial fibrosis	1/1	OMIM:619902
7290	HIRA	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:567
7290	HIRA	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:567
7290	HIRA	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:567
7290	HIRA	HP:0002435	Meningocele	HP:0040282	ORPHA:567
7290	HIRA	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:567
7290	HIRA	HP:0002414	Spina bifida	HP:0040283	ORPHA:567
7290	HIRA	HP:0001281	Tetany	HP:0040282	ORPHA:567
7290	HIRA	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:567
7290	HIRA	HP:0001250	Seizure	HP:0040283	ORPHA:567
7290	HIRA	HP:0001252	Hypotonia	HP:0040281	ORPHA:567
7290	HIRA	HP:0001249	Intellectual disability	HP:0040283	ORPHA:567
7290	HIRA	HP:0001263	Global developmental delay	HP:0040282	ORPHA:567
7290	HIRA	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:567
7290	HIRA	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:567
7290	HIRA	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:567
7290	HIRA	HP:0001369	Arthritis	HP:0040283	ORPHA:567
7290	HIRA	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:567
7290	HIRA	HP:0000047	Hypospadias	HP:0040283	ORPHA:567
7290	HIRA	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:567
7290	HIRA	HP:0002691	Platybasia	HP:0040281	ORPHA:567
7290	HIRA	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:567
7290	HIRA	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:567
7290	HIRA	HP:0001328	Specific learning disability	HP:0040282	ORPHA:567
7290	HIRA	HP:0002650	Scoliosis	HP:0040282	ORPHA:567
7290	HIRA	HP:0002619	Varicose veins	HP:0040283	ORPHA:567
7290	HIRA	HP:0001300	Parkinsonism	HP:0040283	ORPHA:567
7290	HIRA	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:567
7290	HIRA	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:567
7290	HIRA	HP:0000160	Narrow mouth	HP:0040283	ORPHA:567
7290	HIRA	HP:0000175	Cleft palate	HP:0040281	ORPHA:567
7290	HIRA	HP:0000113	Polycystic kidney dysplasia	HP:0040283	ORPHA:567
7290	HIRA	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:567
7290	HIRA	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:567
7290	HIRA	HP:0002023	Anal atresia	HP:0040283	ORPHA:567
7290	HIRA	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:567
7290	HIRA	HP:0002019	Constipation	HP:0040282	ORPHA:567
7290	HIRA	HP:0003326	Myalgia	HP:0040282	ORPHA:567
7290	HIRA	HP:0002099	Asthma	HP:0040283	ORPHA:567
7290	HIRA	HP:0002139	Arrhinencephaly	HP:0040283	ORPHA:567
7290	HIRA	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:567
7290	HIRA	HP:0011840	Abnormality of T cell physiology	HP:0040282	ORPHA:567
7290	HIRA	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:567
7290	HIRA	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:567
7290	HIRA	HP:0100765	Abnormality of the tonsils	HP:0040282	ORPHA:567
7290	HIRA	HP:0100735	Hypertensive crisis	HP:0040283	ORPHA:567
7290	HIRA	HP:0100750	Atelectasis	HP:0040283	ORPHA:567
7290	HIRA	HP:0100753	Schizophrenia	HP:0040283	ORPHA:567
7290	HIRA	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:567
7290	HIRA	HP:0001051	Seborrheic dermatitis	HP:0040282	ORPHA:567
7290	HIRA	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:567
7290	HIRA	HP:0002381	Aphasia	HP:0040281	ORPHA:567
7290	HIRA	HP:0001061	Acne	HP:0040282	ORPHA:567
7290	HIRA	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:567
7290	HIRA	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:567
7290	HIRA	HP:0000648	Optic atrophy	HP:0040283	ORPHA:567
7290	HIRA	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:567
7290	HIRA	HP:0000600	Abnormality of the pharynx	HP:0040281	ORPHA:567
7290	HIRA	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:567
7290	HIRA	HP:0011324	Multiple suture craniosynostosis	HP:0040283	ORPHA:567
7290	HIRA	HP:0000670	Carious teeth	HP:0040282	ORPHA:567
7290	HIRA	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:567
7290	HIRA	HP:0004322	Short stature	HP:0040282	ORPHA:567
7290	HIRA	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:567
7290	HIRA	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:567
7290	HIRA	HP:0000765	Abnormal thorax morphology	HP:0040283	ORPHA:567
7290	HIRA	HP:0000739	Anxiety	HP:0040282	ORPHA:567
7290	HIRA	HP:0000716	Depression	HP:0040283	ORPHA:567
7290	HIRA	HP:0000717	Autism	HP:0040283	ORPHA:567
7290	HIRA	HP:0000708	Atypical behavior	HP:0040283	ORPHA:567
7290	HIRA	HP:0011496	Corneal neovascularization	HP:0040282	ORPHA:567
7290	HIRA	HP:0000778	Hypoplasia of the thymus	HP:0040281	ORPHA:567
7290	HIRA	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:567
7290	HIRA	HP:0000836	Hyperthyroidism	HP:0040283	ORPHA:567
7290	HIRA	HP:0000829	Hypoparathyroidism	HP:0040282	ORPHA:567
7290	HIRA	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:567
7290	HIRA	HP:0011662	Tricuspid atresia	HP:0040283	ORPHA:567
7290	HIRA	HP:0000979	Purpura	HP:0040283	ORPHA:567
7290	HIRA	HP:0000286	Epicanthus	HP:0040281	ORPHA:567
7290	HIRA	HP:0000262	Turricephaly	HP:0040283	ORPHA:567
7290	HIRA	HP:0000276	Long face	HP:0040282	ORPHA:567
7290	HIRA	HP:0000272	Malar flattening	HP:0040282	ORPHA:567
7290	HIRA	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:567
7290	HIRA	HP:0000252	Microcephaly	HP:0040283	ORPHA:567
7290	HIRA	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:567
7290	HIRA	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:567
7290	HIRA	HP:0001508	Failure to thrive	HP:0040283	ORPHA:567
7290	HIRA	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:567
7290	HIRA	HP:0001513	Obesity	HP:0040283	ORPHA:567
7290	HIRA	HP:0006510	Chronic pulmonary obstruction	HP:0040283	ORPHA:567
7290	HIRA	HP:0000385	Small earlobe	HP:0040282	ORPHA:567
7290	HIRA	HP:0000396	Overfolded helix	HP:0040282	ORPHA:567
7290	HIRA	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:567
7290	HIRA	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:567
7290	HIRA	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:567
7290	HIRA	HP:0002901	Hypocalcemia	HP:0040282	ORPHA:567
7290	HIRA	HP:0000365	Hearing impairment	HP:0040282	ORPHA:567
7290	HIRA	HP:0000369	Low-set ears	HP:0040281	ORPHA:567
7290	HIRA	HP:0000343	Long philtrum	HP:0040282	ORPHA:567
7290	HIRA	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:567
7290	HIRA	HP:0000347	Micrognathia	HP:0040283	ORPHA:567
7290	HIRA	HP:0012303	Abnormal aortic arch morphology	HP:0040281	ORPHA:567
7290	HIRA	HP:0000316	Hypertelorism	HP:0040283	ORPHA:567
7290	HIRA	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:567
7290	HIRA	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:567
7290	HIRA	HP:0001660	Truncus arteriosus	HP:0040281	ORPHA:567
7290	HIRA	HP:0000322	Short philtrum	HP:0040283	ORPHA:567
7290	HIRA	HP:0002960	Autoimmunity	HP:0040283	ORPHA:567
7290	HIRA	HP:0001629	Ventricular septal defect	HP:0040281	ORPHA:567
7290	HIRA	HP:0001641	Abnormal pulmonary valve morphology	HP:0040281	ORPHA:567
7290	HIRA	HP:0001636	Tetralogy of Fallot	HP:0040281	ORPHA:567
7290	HIRA	HP:0001631	Atrial septal defect	HP:0040281	ORPHA:567
7290	HIRA	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:567
7290	HIRA	HP:0000486	Strabismus	HP:0040283	ORPHA:567
7290	HIRA	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:567
7290	HIRA	HP:0000492	Abnormal eyelid morphology	HP:0040282	ORPHA:567
7290	HIRA	HP:0000470	Short neck	HP:0040282	ORPHA:567
7290	HIRA	HP:0000453	Choanal atresia	HP:0040283	ORPHA:567
7290	HIRA	HP:0000414	Bulbous nose	HP:0040281	ORPHA:567
7290	HIRA	HP:0001744	Splenomegaly	HP:0040283	ORPHA:567
7290	HIRA	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:567
7290	HIRA	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:567
7290	HIRA	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:567
7290	HIRA	HP:0000518	Cataract	HP:0040283	ORPHA:567
7290	HIRA	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:567
7290	HIRA	HP:0000506	Telecanthus	HP:0040281	ORPHA:567
7290	HIRA	HP:0000508	Ptosis	HP:0040282	ORPHA:567
7290	HIRA	HP:0000501	Glaucoma	HP:0040283	ORPHA:567
7290	HIRA	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:567
7290	HIRA	HP:0000568	Microphthalmia	HP:0040283	ORPHA:567
7290	HIRA	HP:0001872	Abnormality of thrombocytes	HP:0040283	ORPHA:567
7290	HIRA	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:567
7291	TWIST1	HP:0009901	Crumpled ear	1/2	OMIM:617746
7291	TWIST1	HP:0001156	Brachydactyly	-	OMIM:101400
7291	TWIST1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:794
7291	TWIST1	HP:0001156	Brachydactyly	HP:0040283	ORPHA:35099
7291	TWIST1	HP:0001159	Syndactyly	-	OMIM:101400
7291	TWIST1	HP:0009968	Partial duplication of the distal phalanx of the 3rd finger	-	OMIM:101400
7291	TWIST1	HP:0009951	Partial duplication of the distal phalanx of the 2nd finger	-	OMIM:101400
7291	TWIST1	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:794
7291	TWIST1	HP:0009909	Uplifted earlobe	1/2	OMIM:617746
7291	TWIST1	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:35099
7291	TWIST1	HP:0009899	Prominent crus of helix	HP:0040282	ORPHA:794
7291	TWIST1	HP:0009899	Prominent crus of helix	-	OMIM:101400
7291	TWIST1	HP:0009882	Short distal phalanx of finger	1/2	OMIM:617746
7291	TWIST1	HP:0008551	Microtia	-	OMIM:101400
7291	TWIST1	HP:0008551	Microtia	HP:0040282	ORPHA:794
7291	TWIST1	HP:0008551	Microtia	1/2	OMIM:617746
7291	TWIST1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7291	TWIST1	HP:0001293	Cranial nerve compression	-	OMIM:131300
7291	TWIST1	HP:0100807	Long fingers	1/2	OMIM:617746
7291	TWIST1	HP:0001250	Seizure	HP:0040283	ORPHA:794
7291	TWIST1	HP:0001252	Hypotonia	2/7	OMIM:615777
7291	TWIST1	HP:0001249	Intellectual disability	HP:0040283	OMIM:101400
7291	TWIST1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:35099
7291	TWIST1	HP:0001249	Intellectual disability	0/2	OMIM:123100
7291	TWIST1	HP:0001249	Intellectual disability	5/7	OMIM:615777
7291	TWIST1	HP:0001263	Global developmental delay	2/2	OMIM:617746
7291	TWIST1	HP:0001263	Global developmental delay	-	OMIM:615777
7291	TWIST1	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:794
7291	TWIST1	HP:0008689	Bilateral cryptorchidism	1/1	OMIM:617746
7291	TWIST1	HP:0002515	Waddling gait	54/102	OMIM:131300
7291	TWIST1	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:794
7291	TWIST1	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:35093
7291	TWIST1	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:35099
7291	TWIST1	HP:0003828	Variable expressivity	-	OMIM:101400
7291	TWIST1	HP:0001382	Joint hypermobility	-	OMIM:615777
7291	TWIST1	HP:0002678	Skull asymmetry	-	OMIM:101400
7291	TWIST1	HP:0002697	Parietal foramina	HP:0040283	ORPHA:794
7291	TWIST1	HP:0002697	Parietal foramina	-	OMIM:101400
7291	TWIST1	HP:0001363	Craniosynostosis	-	OMIM:123100
7291	TWIST1	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:794
7291	TWIST1	HP:0001363	Craniosynostosis	2/2	OMIM:180750
7291	TWIST1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7291	TWIST1	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:794
7291	TWIST1	HP:0001357	Plagiocephaly	-	OMIM:101400
7291	TWIST1	HP:0001357	Plagiocephaly	1/2	OMIM:180750
7291	TWIST1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:794
7291	TWIST1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7291	TWIST1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7291	TWIST1	HP:0001324	Muscle weakness	40/96	OMIM:131300
7291	TWIST1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7291	TWIST1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7291	TWIST1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180750
7291	TWIST1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617746
7291	TWIST1	HP:0000006	Autosomal dominant inheritance	-	OMIM:101400
7291	TWIST1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7291	TWIST1	HP:0000006	Autosomal dominant inheritance	-	OMIM:123100
7291	TWIST1	HP:0002650	Scoliosis	HP:0040283	ORPHA:794
7291	TWIST1	HP:0002650	Scoliosis	12/14	OMIM:131300
7291	TWIST1	HP:0001321	Cerebellar hypoplasia	1/2	OMIM:617746
7291	TWIST1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7291	TWIST1	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:101400
7291	TWIST1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7291	TWIST1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7291	TWIST1	HP:0000189	Narrow palate	HP:0040282	ORPHA:794
7291	TWIST1	HP:0000189	Narrow palate	-	OMIM:101400
7291	TWIST1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:794
7291	TWIST1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7291	TWIST1	HP:0000160	Narrow mouth	1/2	OMIM:617746
7291	TWIST1	HP:0001488	Bilateral ptosis	2/2	OMIM:180750
7291	TWIST1	HP:0000175	Cleft palate	-	OMIM:101400
7291	TWIST1	HP:0000175	Cleft palate	HP:0040283	ORPHA:794
7291	TWIST1	HP:0000175	Cleft palate	2/7	OMIM:615777
7291	TWIST1	HP:0007678	Lacrimal duct stenosis	HP:0040282	ORPHA:794
7291	TWIST1	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:794
7291	TWIST1	HP:0002023	Anal atresia	1/2	OMIM:617746
7291	TWIST1	HP:0002020	Gastroesophageal reflux	1/2	OMIM:617746
7291	TWIST1	HP:0002000	Short columella	1/2	OMIM:617746
7291	TWIST1	HP:0002007	Frontal bossing	1/2	OMIM:123100
7291	TWIST1	HP:0002007	Frontal bossing	HP:0040283	ORPHA:35093
7291	TWIST1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:794
7291	TWIST1	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:794
7291	TWIST1	HP:0011800	Midface retrusion	HP:0040283	ORPHA:35099
7291	TWIST1	HP:0011800	Midface retrusion	1/2	OMIM:617746
7291	TWIST1	HP:0002076	Migraine	HP:0040283	ORPHA:794
7291	TWIST1	HP:0003388	Easy fatigability	36/76	OMIM:131300
7291	TWIST1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7291	TWIST1	HP:0010535	Sleep apnea	HP:0040283	ORPHA:794
7291	TWIST1	HP:0003593	Infantile onset	1/2	OMIM:123100
7291	TWIST1	HP:0003593	Infantile onset	1/1	OMIM:180750
7291	TWIST1	HP:0003577	Congenital onset	1/2	OMIM:123100
7291	TWIST1	HP:0003577	Congenital onset	2/2	OMIM:617746
7291	TWIST1	HP:0002230	Generalized hirsutism	1/2	OMIM:617746
7291	TWIST1	HP:0009738	Abnormal antihelix morphology	HP:0040282	ORPHA:794
7291	TWIST1	HP:0010720	Abnormal hair pattern	HP:0040283	ORPHA:794
7291	TWIST1	HP:0010715	2-5 toe syndactyly	1/2	OMIM:617746
7291	TWIST1	HP:0010709	2-4 finger cutaneous syndactyly	1/2	OMIM:617746
7291	TWIST1	HP:0009701	Metacarpal synostosis	HP:0040283	ORPHA:35099
7291	TWIST1	HP:0003510	Severe short stature	7/7	OMIM:615777
7291	TWIST1	HP:0002342	Intellectual disability, moderate	-	OMIM:101400
7291	TWIST1	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:794
7291	TWIST1	HP:0002315	Headache	-	OMIM:131300
7291	TWIST1	HP:0002315	Headache	HP:0040283	ORPHA:794
7291	TWIST1	HP:0004976	Knee dislocation	6/7	OMIM:615777
7291	TWIST1	HP:0010807	Open bite	HP:0040282	ORPHA:794
7291	TWIST1	HP:0009803	Short phalanx of finger	-	OMIM:615777
7291	TWIST1	HP:0009763	Limb pain	63/92	OMIM:131300
7291	TWIST1	HP:0009765	Low hanging columella	1/2	OMIM:617746
7291	TWIST1	HP:0003621	Juvenile onset	-	OMIM:131300
7291	TWIST1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7291	TWIST1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:101400
7291	TWIST1	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:794
7291	TWIST1	HP:0010084	Duplication of the distal phalanx of the hallux	HP:0040283	ORPHA:794
7291	TWIST1	HP:0010084	Duplication of the distal phalanx of the hallux	2/2	OMIM:180750
7291	TWIST1	HP:0009099	Median cleft palate	1/2	OMIM:617746
7291	TWIST1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7291	TWIST1	HP:0000636	Upper eyelid coloboma	2/2	OMIM:617746
7291	TWIST1	HP:6001056	Out-toeing	-	OMIM:131300
7291	TWIST1	HP:0000651	Diplopia	-	OMIM:131300
7291	TWIST1	HP:0000646	Amblyopia	HP:0040283	ORPHA:794
7291	TWIST1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:794
7291	TWIST1	HP:0000643	Blepharospasm	HP:0040282	ORPHA:794
7291	TWIST1	HP:0000614	Abnormal nasolacrimal system morphology	-	OMIM:101400
7291	TWIST1	HP:0001956	Truncal obesity	2/7	OMIM:615777
7291	TWIST1	HP:0000601	Hypotelorism	HP:0040283	ORPHA:794
7291	TWIST1	HP:0001903	Anemia	HP:0040283	OMIM:131300
7291	TWIST1	HP:0010049	Short metacarpal	-	OMIM:615777
7291	TWIST1	HP:0011386	Narrow internal auditory canal	HP:0040282	ORPHA:794
7291	TWIST1	HP:0010055	Broad hallux	2/2	OMIM:180750
7291	TWIST1	HP:0000678	Dental crowding	-	OMIM:615777
7291	TWIST1	HP:0011325	Pansynostosis	1/2	OMIM:180750
7291	TWIST1	HP:0011323	Cleft of chin	-	OMIM:101400
7291	TWIST1	HP:0011317	Right unicoronal synostosis	1/2	OMIM:123100
7291	TWIST1	HP:0000670	Carious teeth	-	OMIM:131300
7291	TWIST1	HP:0011304	Broad thumb	HP:0040283	ORPHA:794
7291	TWIST1	HP:0011304	Broad thumb	2/7	OMIM:615777
7291	TWIST1	HP:0011304	Broad thumb	1/2	OMIM:180750
7291	TWIST1	HP:0000668	Hypodontia	-	OMIM:615777
7291	TWIST1	HP:0000664	Synophrys	-	OMIM:615777
7291	TWIST1	HP:0004322	Short stature	HP:0040283	ORPHA:794
7291	TWIST1	HP:0004322	Short stature	-	OMIM:101400
7291	TWIST1	HP:0005650	2-5 finger cutaneous syndactyly	1/2	OMIM:617746
7291	TWIST1	HP:0003002	Breast carcinoma	-	OMIM:101400
7291	TWIST1	HP:0030680	Abnormal cardiovascular system morphology	-	OMIM:101400
7291	TWIST1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:794
7291	TWIST1	HP:0004396	Poor appetite	-	OMIM:131300
7291	TWIST1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7291	TWIST1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7291	TWIST1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7291	TWIST1	HP:0003026	Short long bone	7/7	OMIM:615777
7291	TWIST1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7291	TWIST1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7291	TWIST1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7291	TWIST1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7291	TWIST1	HP:0000750	Delayed speech and language development	-	OMIM:615777
7291	TWIST1	HP:0000750	Delayed speech and language development	1/2	OMIM:617746
7291	TWIST1	HP:0011461	Fetal onset	7/7	OMIM:615777
7291	TWIST1	HP:0010104	Absent first metatarsal	-	OMIM:101400
7291	TWIST1	HP:0000774	Narrow chest	2/7	OMIM:615777
7291	TWIST1	HP:0000774	Narrow chest	1/2	OMIM:617746
7291	TWIST1	HP:0004443	Lambdoidal craniosynostosis	-	OMIM:101400
7291	TWIST1	HP:0004442	Sagittal craniosynostosis	1/2	OMIM:123100
7291	TWIST1	HP:0004440	Coronal craniosynostosis	HP:0040281	ORPHA:794
7291	TWIST1	HP:0004440	Coronal craniosynostosis	-	OMIM:101400
7291	TWIST1	HP:0004422	Biparietal narrowing	1/2	OMIM:123100
7291	TWIST1	HP:0004425	Flat forehead	-	OMIM:101400
7291	TWIST1	HP:0030799	Scaphocephaly	-	OMIM:123100
7291	TWIST1	HP:0000929	Abnormal skull morphology	HP:0040281	ORPHA:794
7291	TWIST1	HP:0000926	Platyspondyly	1/7	OMIM:615777
7291	TWIST1	HP:0003189	Long nose	-	OMIM:101400
7291	TWIST1	HP:0003189	Long nose	-	OMIM:180750
7291	TWIST1	HP:0003180	Flat acetabular roof	-	OMIM:615777
7291	TWIST1	HP:0004482	Relative macrocephaly	-	OMIM:615777
7291	TWIST1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7291	TWIST1	HP:0000823	Delayed puberty	-	OMIM:131300
7291	TWIST1	HP:0000894	Short clavicles	-	OMIM:615777
7291	TWIST1	HP:0000894	Short clavicles	1/2	OMIM:617746
7291	TWIST1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7291	TWIST1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7291	TWIST1	HP:0000286	Epicanthus	HP:0040283	ORPHA:794
7291	TWIST1	HP:0000286	Epicanthus	1/7	OMIM:615777
7291	TWIST1	HP:0000280	Coarse facial features	2/7	OMIM:615777
7291	TWIST1	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:794
7291	TWIST1	HP:0000294	Low anterior hairline	-	OMIM:101400
7291	TWIST1	HP:0000294	Low anterior hairline	1/2	OMIM:617746
7291	TWIST1	HP:0000263	Oxycephaly	-	OMIM:123100
7291	TWIST1	HP:0000263	Oxycephaly	-	OMIM:101400
7291	TWIST1	HP:0000260	Wide anterior fontanel	1/2	OMIM:617746
7291	TWIST1	HP:0000262	Turricephaly	-	OMIM:123100
7291	TWIST1	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:794
7291	TWIST1	HP:0000270	Delayed cranial suture closure	-	OMIM:101400
7291	TWIST1	HP:0000272	Malar flattening	-	OMIM:101400
7291	TWIST1	HP:0000272	Malar flattening	-	OMIM:180750
7291	TWIST1	HP:0000268	Dolichocephaly	-	OMIM:123100
7291	TWIST1	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:35093
7291	TWIST1	HP:0000269	Prominent occiput	1/2	OMIM:123100
7291	TWIST1	HP:0000269	Prominent occiput	HP:0040283	ORPHA:35093
7291	TWIST1	HP:0002827	Hip dislocation	3/7	OMIM:615777
7291	TWIST1	HP:0005037	Proximal radio-ulnar synostosis	HP:0040283	ORPHA:794
7291	TWIST1	HP:0000252	Microcephaly	-	OMIM:615777
7291	TWIST1	HP:0000248	Brachycephaly	-	OMIM:101400
7291	TWIST1	HP:0000248	Brachycephaly	HP:0040281	ORPHA:35099
7291	TWIST1	HP:0000248	Brachycephaly	HP:0040282	ORPHA:794
7291	TWIST1	HP:0000248	Brachycephaly	1/2	OMIM:617746
7291	TWIST1	HP:0000220	Velopharyngeal insufficiency	1/2	OMIM:617746
7291	TWIST1	HP:0000218	High palate	1/2	OMIM:617746
7291	TWIST1	HP:0001561	Polyhydramnios	1/2	OMIM:617746
7291	TWIST1	HP:0002857	Genu valgum	-	OMIM:131300
7291	TWIST1	HP:0001533	Slender build	-	OMIM:131300
7291	TWIST1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7291	TWIST1	HP:0007807	Optic nerve compression	-	OMIM:131300
7291	TWIST1	HP:0012368	Flat face	7/7	OMIM:615777
7291	TWIST1	HP:0012368	Flat face	-	OMIM:101400
7291	TWIST1	HP:0012368	Flat face	-	OMIM:180750
7291	TWIST1	HP:0000378	Cupped ear	1/2	OMIM:617746
7291	TWIST1	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:794
7291	TWIST1	HP:0000396	Overfolded helix	1/2	OMIM:617746
7291	TWIST1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7291	TWIST1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:794
7291	TWIST1	HP:0000365	Hearing impairment	-	OMIM:101400
7291	TWIST1	HP:0000365	Hearing impairment	10/67	OMIM:131300
7291	TWIST1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:35099
7291	TWIST1	HP:0000365	Hearing impairment	1/2	OMIM:617746
7291	TWIST1	HP:0000369	Low-set ears	HP:0040283	ORPHA:794
7291	TWIST1	HP:0000369	Low-set ears	-	OMIM:101400
7291	TWIST1	HP:0000369	Low-set ears	1/2	OMIM:617746
7291	TWIST1	HP:0000343	Long philtrum	1/7	OMIM:615777
7291	TWIST1	HP:0011001	Increased bone mineral density	-	OMIM:131300
7291	TWIST1	HP:0000337	Broad forehead	HP:0040281	ORPHA:35099
7291	TWIST1	HP:0000349	Widow's peak	1/2	OMIM:617746
7291	TWIST1	HP:0000348	High forehead	-	OMIM:101400
7291	TWIST1	HP:0000348	High forehead	HP:0040281	ORPHA:794
7291	TWIST1	HP:0000347	Micrognathia	1/2	OMIM:617746
7291	TWIST1	HP:0001650	Aortic valve stenosis	1/2	OMIM:123100
7291	TWIST1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:794
7291	TWIST1	HP:0000316	Hypertelorism	-	OMIM:180750
7291	TWIST1	HP:0000316	Hypertelorism	-	OMIM:101400
7291	TWIST1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:35099
7291	TWIST1	HP:0000316	Hypertelorism	2/2	OMIM:617746
7291	TWIST1	HP:0001643	Patent ductus arteriosus	1/2	OMIM:617746
7291	TWIST1	HP:0000311	Round face	2/7	OMIM:615777
7291	TWIST1	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:794
7291	TWIST1	HP:0002974	Radioulnar synostosis	-	OMIM:101400
7291	TWIST1	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:794
7291	TWIST1	HP:0000327	Hypoplasia of the maxilla	-	OMIM:101400
7291	TWIST1	HP:0000322	Short philtrum	1/2	OMIM:617746
7291	TWIST1	HP:0000324	Facial asymmetry	-	OMIM:101400
7291	TWIST1	HP:0000324	Facial asymmetry	HP:0040281	ORPHA:794
7291	TWIST1	HP:0001655	Patent foramen ovale	1/2	OMIM:617746
7291	TWIST1	HP:0001627	Abnormal heart morphology	-	OMIM:101400
7291	TWIST1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:794
7291	TWIST1	HP:0002970	Genu varum	-	OMIM:615777
7291	TWIST1	HP:0000303	Mandibular prognathia	-	OMIM:131300
7291	TWIST1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:794
7291	TWIST1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:794
7291	TWIST1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:794
7291	TWIST1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7291	TWIST1	HP:0000486	Strabismus	HP:0040282	ORPHA:794
7291	TWIST1	HP:0000486	Strabismus	-	OMIM:180750
7291	TWIST1	HP:0000486	Strabismus	-	OMIM:101400
7291	TWIST1	HP:0000494	Downslanted palpebral fissures	2/2	OMIM:180750
7291	TWIST1	HP:0001792	Small nail	1/2	OMIM:617746
7291	TWIST1	HP:0000460	Narrow nose	-	OMIM:101400
7291	TWIST1	HP:0000460	Narrow nose	-	OMIM:180750
7291	TWIST1	HP:0000455	Broad nasal tip	2/2	OMIM:617746
7291	TWIST1	HP:0000475	Broad neck	1/2	OMIM:617746
7291	TWIST1	HP:0000470	Short neck	1/7	OMIM:615777
7291	TWIST1	HP:0001770	Toe syndactyly	-	OMIM:101400
7291	TWIST1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7291	TWIST1	HP:0001763	Pes planus	1/7	OMIM:615777
7291	TWIST1	HP:0000453	Choanal atresia	1/2	OMIM:617746
7291	TWIST1	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:794
7291	TWIST1	HP:0000444	Convex nasal ridge	-	OMIM:101400
7291	TWIST1	HP:0001776	Bilateral talipes equinovarus	1/2	OMIM:617746
7291	TWIST1	HP:0001746	Asplenia	1/2	OMIM:617746
7291	TWIST1	HP:0000431	Wide nasal bridge	1/2	OMIM:617746
7291	TWIST1	HP:0000430	Underdeveloped nasal alae	1/2	OMIM:617746
7291	TWIST1	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:794
7291	TWIST1	HP:0005487	Prominent metopic ridge	2/2	OMIM:617746
7291	TWIST1	HP:0005469	Flat occiput	1/2	OMIM:617746
7291	TWIST1	HP:0001840	Metatarsus adductus	-	OMIM:615777
7291	TWIST1	HP:0000520	Proptosis	2/4	OMIM:131300
7291	TWIST1	HP:0000520	Proptosis	HP:0040282	ORPHA:35099
7291	TWIST1	HP:0000520	Proptosis	7/7	OMIM:615777
7291	TWIST1	HP:0001822	Hallux valgus	HP:0040283	ORPHA:794
7291	TWIST1	HP:0001822	Hallux valgus	-	OMIM:101400
7291	TWIST1	HP:0001822	Hallux valgus	2/2	OMIM:180750
7291	TWIST1	HP:0001837	Broad toe	HP:0040283	ORPHA:794
7291	TWIST1	HP:0000508	Ptosis	HP:0040282	ORPHA:794
7291	TWIST1	HP:0000508	Ptosis	-	OMIM:101400
7291	TWIST1	HP:0031664	Systolic heart murmur	1/2	OMIM:123100
7291	TWIST1	HP:0000592	Blue sclerae	2/7	OMIM:615777
7291	TWIST1	HP:0000586	Shallow orbits	-	OMIM:101400
7291	TWIST1	HP:0000586	Shallow orbits	-	OMIM:180750
7291	TWIST1	HP:0011220	Prominent forehead	1/2	OMIM:123100
7291	TWIST1	HP:0000557	Buphthalmos	-	OMIM:101400
7291	TWIST1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7291	TWIST1	HP:0012514	Lower limb pain	4/4	OMIM:131300
7292	TNFSF4	HP:0002494	Abnormal rapid eye movement sleep	HP:0040282	ORPHA:2073
7292	TNFSF4	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
7292	TNFSF4	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
7292	TNFSF4	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
7292	TNFSF4	HP:0025235	NREM parasomnia	HP:0040282	ORPHA:2073
7292	TNFSF4	HP:0025233	Sleep paralysis	HP:0040283	ORPHA:2073
7292	TNFSF4	HP:0001279	Syncope	HP:0040283	ORPHA:2073
7292	TNFSF4	HP:0001250	Seizure	HP:0040283	ORPHA:536
7292	TNFSF4	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:2073
7292	TNFSF4	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
7292	TNFSF4	HP:0002519	Hypnagogic hallucination	HP:0040282	ORPHA:2073
7292	TNFSF4	HP:0002524	Cataplexy	HP:0040281	ORPHA:2073
7292	TNFSF4	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
7292	TNFSF4	HP:0001369	Arthritis	HP:0040282	ORPHA:536
7292	TNFSF4	HP:0001350	Slurred speech	HP:0040283	ORPHA:2073
7292	TNFSF4	HP:0000017	Nocturia	HP:0040282	ORPHA:2073
7292	TNFSF4	HP:0033834	Malaise	HP:0040281	ORPHA:536
7292	TNFSF4	HP:0012085	Pyuria	HP:0040282	ORPHA:536
7292	TNFSF4	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
7292	TNFSF4	HP:0025300	Malar rash	HP:0040282	ORPHA:536
7292	TNFSF4	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
7292	TNFSF4	HP:0007686	Abnormal pupillary function	HP:0040282	ORPHA:2073
7292	TNFSF4	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
7292	TNFSF4	HP:0002019	Constipation	HP:0040282	ORPHA:2073
7292	TNFSF4	HP:0040307	Male sexual dysfunction	HP:0040282	ORPHA:2073
7292	TNFSF4	HP:0002076	Migraine	HP:0040283	ORPHA:2073
7292	TNFSF4	HP:0002072	Chorea	HP:0040284	ORPHA:536
7292	TNFSF4	HP:0002039	Anorexia	HP:0040281	ORPHA:536
7292	TNFSF4	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
7292	TNFSF4	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
7292	TNFSF4	HP:0010535	Sleep apnea	HP:0040283	ORPHA:2073
7292	TNFSF4	HP:0010534	Transient global amnesia	HP:0040281	ORPHA:2073
7292	TNFSF4	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
7292	TNFSF4	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
7292	TNFSF4	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:2073
7292	TNFSF4	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:2073
7292	TNFSF4	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
7292	TNFSF4	HP:0002307	Drooling	HP:0040282	ORPHA:2073
7292	TNFSF4	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
7292	TNFSF4	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
7292	TNFSF4	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
7292	TNFSF4	HP:0006896	Hypnopompic hallucination	HP:0040282	ORPHA:2073
7292	TNFSF4	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
7292	TNFSF4	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
7292	TNFSF4	HP:0001945	Fever	HP:0040281	ORPHA:536
7292	TNFSF4	HP:0000738	Hallucinations	HP:0040281	ORPHA:2073
7292	TNFSF4	HP:0000739	Anxiety	HP:0040282	ORPHA:2073
7292	TNFSF4	HP:0000716	Depression	HP:0040283	ORPHA:536
7292	TNFSF4	HP:0000716	Depression	HP:0040283	ORPHA:2073
7292	TNFSF4	HP:0000711	Restlessness	HP:0040283	ORPHA:2073
7292	TNFSF4	HP:0000709	Psychosis	HP:0040284	ORPHA:2073
7292	TNFSF4	HP:0000790	Hematuria	HP:0040282	ORPHA:536
7292	TNFSF4	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
7292	TNFSF4	HP:0000826	Precocious puberty	HP:0040283	ORPHA:2073
7292	TNFSF4	HP:0000822	Hypertension	HP:0040282	ORPHA:536
7292	TNFSF4	HP:0000822	Hypertension	HP:0040282	ORPHA:2073
7292	TNFSF4	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
7292	TNFSF4	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
7292	TNFSF4	HP:0045073	Serositis	HP:0040283	ORPHA:536
7292	TNFSF4	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:2073
7292	TNFSF4	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
7292	TNFSF4	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
7292	TNFSF4	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
7292	TNFSF4	HP:0001596	Alopecia	HP:0040282	ORPHA:536
7292	TNFSF4	HP:0030014	Female sexual dysfunction	HP:0040282	ORPHA:2073
7292	TNFSF4	HP:0001513	Obesity	HP:0040283	ORPHA:2073
7292	TNFSF4	HP:0012378	Fatigue	HP:0040281	ORPHA:536
7292	TNFSF4	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
7292	TNFSF4	HP:0012452	Restless legs	HP:0040282	ORPHA:2073
7292	TNFSF4	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
7292	TNFSF4	HP:0001824	Weight loss	HP:0040281	ORPHA:536
7292	TNFSF4	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
7292	TNFSF4	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
7292	TNFSF4	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
7293	TNFRSF4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615593
7293	TNFRSF4	HP:0002721	Immunodeficiency	-	OMIM:615593
7293	TNFRSF4	HP:0100726	Kaposi's sarcoma	3/3	OMIM:615593
7293	TNFRSF4	HP:0004844	Coombs-positive hemolytic anemia	-	OMIM:615593
7293	TNFRSF4	HP:0003621	Juvenile onset	-	OMIM:615593
7293	TNFRSF4	HP:0001744	Splenomegaly	-	OMIM:615593
7293	TNFRSF4	HP:0001876	Pancytopenia	-	OMIM:615593
7297	TYK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:611521
7297	TYK2	HP:0002721	Immunodeficiency	-	OMIM:611521
7297	TYK2	HP:0002205	Recurrent respiratory infections	-	OMIM:611521
7297	TYK2	HP:0004429	Recurrent viral infections	-	OMIM:611521
7297	TYK2	HP:0003212	Increased circulating IgE concentration	-	OMIM:611521
7297	TYK2	HP:0002841	Recurrent fungal infections	-	OMIM:611521
7297	TYK2	HP:0011274	Recurrent mycobacterial infections	-	OMIM:611521
7298	TYMS	HP:0009926	Epiphora	1/10	OMIM:620040
7298	TYMS	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:1775
7298	TYMS	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1775
7298	TYMS	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1775
7298	TYMS	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1775
7298	TYMS	HP:0008734	Decreased testicular size	1/11	OMIM:620040
7298	TYMS	HP:0010984	Digenic inheritance	-	OMIM:620040
7298	TYMS	HP:0008661	Urethral stenosis	HP:0040282	ORPHA:1775
7298	TYMS	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:1775
7298	TYMS	HP:0001399	Hepatic failure	HP:0040283	ORPHA:1775
7298	TYMS	HP:0001394	Cirrhosis	HP:0040283	ORPHA:1775
7298	TYMS	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:1775
7298	TYMS	HP:0002664	Neoplasm	HP:0040282	ORPHA:1775
7298	TYMS	HP:0002671	Basal cell carcinoma	1/10	OMIM:620040
7298	TYMS	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040282	ORPHA:1775
7298	TYMS	HP:0002665	Lymphoma	HP:0040283	ORPHA:1775
7298	TYMS	HP:0002650	Scoliosis	HP:0040283	ORPHA:1775
7298	TYMS	HP:0000164	Abnormality of the dentition	1/10	OMIM:620040
7298	TYMS	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:1775
7298	TYMS	HP:0001488	Bilateral ptosis	1/10	OMIM:620040
7298	TYMS	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:1775
7298	TYMS	HP:0002745	Oral leukoplakia	4/10	OMIM:620040
7298	TYMS	HP:0002745	Oral leukoplakia	HP:0040281	ORPHA:1775
7298	TYMS	HP:0002719	Recurrent infections	3/10	OMIM:620040
7298	TYMS	HP:0002720	Decreased circulating IgA concentration	4/9	OMIM:620040
7298	TYMS	HP:0002024	Malabsorption	HP:0040282	ORPHA:1775
7298	TYMS	HP:0002020	Gastroesophageal reflux	1/10	OMIM:620040
7298	TYMS	HP:0002015	Dysphagia	1/10	OMIM:620040
7298	TYMS	HP:0010450	Esophageal stenosis	HP:0040282	ORPHA:1775
7298	TYMS	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:1775
7298	TYMS	HP:0003593	Infantile onset	6/9	OMIM:620040
7298	TYMS	HP:0003577	Congenital onset	2/9	OMIM:620040
7298	TYMS	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:1775
7298	TYMS	HP:0002216	Premature graying of hair	HP:0040283	ORPHA:1775
7298	TYMS	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1775
7298	TYMS	HP:0008404	Nail dystrophy	10/10	OMIM:620040
7298	TYMS	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:1775
7298	TYMS	HP:0010624	Aplastic/hypoplastic toenail	HP:0040282	ORPHA:1775
7298	TYMS	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:1775
7298	TYMS	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:1775
7298	TYMS	HP:0001018	Abnormal palmar dermatoglyphics	1/10	OMIM:620040
7298	TYMS	HP:0001000	Abnormality of skin pigmentation	10/10	OMIM:620040
7298	TYMS	HP:0200037	Skin vesicle	HP:0040283	ORPHA:1775
7298	TYMS	HP:0100670	Coarse metaphyseal trabecularization	HP:0040282	ORPHA:1775
7298	TYMS	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:1775
7298	TYMS	HP:0200042	Skin ulcer	HP:0040282	ORPHA:1775
7298	TYMS	HP:0003621	Juvenile onset	1/9	OMIM:620040
7298	TYMS	HP:0005528	Bone marrow hypocellularity	HP:0040282	ORPHA:1775
7298	TYMS	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:1775
7298	TYMS	HP:0000600	Abnormality of the pharynx	HP:0040282	ORPHA:1775
7298	TYMS	HP:0001903	Anemia	1/10	OMIM:620040
7298	TYMS	HP:0001903	Anemia	HP:0040281	ORPHA:1775
7298	TYMS	HP:0011364	White hair	HP:0040283	ORPHA:1775
7298	TYMS	HP:0000679	Taurodontia	HP:0040282	ORPHA:1775
7298	TYMS	HP:0000653	Sparse eyelashes	9/9	OMIM:620040
7298	TYMS	HP:0000670	Carious teeth	HP:0040282	ORPHA:1775
7298	TYMS	HP:0000668	Hypodontia	HP:0040282	ORPHA:1775
7298	TYMS	HP:0004322	Short stature	2/10	OMIM:620040
7298	TYMS	HP:0004322	Short stature	HP:0040282	ORPHA:1775
7298	TYMS	HP:0004315	Decreased circulating IgG concentration	1/10	OMIM:620040
7298	TYMS	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:1775
7298	TYMS	HP:0012733	Macule	HP:0040281	ORPHA:1775
7298	TYMS	HP:0000704	Periodontitis	HP:0040282	ORPHA:1775
7298	TYMS	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1775
7298	TYMS	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1775
7298	TYMS	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:1775
7298	TYMS	HP:0000939	Osteoporosis	HP:0040283	ORPHA:1775
7298	TYMS	HP:0008070	Sparse hair	HP:0040282	ORPHA:1775
7298	TYMS	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1775
7298	TYMS	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:1775
7298	TYMS	HP:0001596	Alopecia	9/9	OMIM:620040
7298	TYMS	HP:0001596	Alopecia	HP:0040283	ORPHA:1775
7298	TYMS	HP:0031413	Short telomere length	2/3	OMIM:620040
7298	TYMS	HP:0000252	Microcephaly	1/10	OMIM:620040
7298	TYMS	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:1775
7298	TYMS	HP:0002861	Melanoma	1/11	OMIM:620040
7298	TYMS	HP:0001508	Failure to thrive	1/10	OMIM:620040
7298	TYMS	HP:0002850	Decreased circulating total IgM	2/9	OMIM:620040
7298	TYMS	HP:0001511	Intrauterine growth retardation	1/10	OMIM:620040
7298	TYMS	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1775
7298	TYMS	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1775
7298	TYMS	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:1775
7298	TYMS	HP:0000499	Abnormal eyelash morphology	HP:0040283	ORPHA:1775
7298	TYMS	HP:0000498	Blepharitis	HP:0040283	ORPHA:1775
7298	TYMS	HP:0005374	Cellular immunodeficiency	HP:0040282	ORPHA:1775
7298	TYMS	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1775
7298	TYMS	HP:0006739	Squamous cell carcinoma of the skin	1/10	OMIM:620040
7298	TYMS	HP:0000518	Cataract	HP:0040283	ORPHA:1775
7298	TYMS	HP:0000534	Abnormal eyebrow morphology	HP:0040283	ORPHA:1775
7298	TYMS	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:1775
7298	TYMS	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:1775
7299	TYR	HP:0001107	Ocular albinism	-	OMIM:203100
7299	TYR	HP:0001107	Ocular albinism	HP:0040281	ORPHA:79431
7299	TYR	HP:0001100	Heterochromia iridis	HP:0040282	ORPHA:895
7299	TYR	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:895
7299	TYR	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:79431
7299	TYR	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:79434
7299	TYR	HP:0000007	Autosomal recessive inheritance	-	OMIM:203100
7299	TYR	HP:0000007	Autosomal recessive inheritance	-	OMIM:606952
7299	TYR	HP:0001480	Freckling	HP:0040282	ORPHA:79431
7299	TYR	HP:0001480	Freckling	HP:0040281	ORPHA:79434
7299	TYR	HP:0007663	Reduced visual acuity	-	OMIM:203100
7299	TYR	HP:0003577	Congenital onset	-	OMIM:203100
7299	TYR	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:895
7299	TYR	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:895
7299	TYR	HP:0002211	White forelock	HP:0040282	ORPHA:895
7299	TYR	HP:0200098	Absent skin pigmentation	-	OMIM:203100
7299	TYR	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:895
7299	TYR	HP:0001010	Hypopigmentation of the skin	-	OMIM:606952
7299	TYR	HP:0001010	Hypopigmentation of the skin	HP:0040281	ORPHA:79431
7299	TYR	HP:0001010	Hypopigmentation of the skin	HP:0040281	ORPHA:79434
7299	TYR	HP:0001022	Albinism	-	OMIM:606952
7299	TYR	HP:0001022	Albinism	-	OMIM:203100
7299	TYR	HP:0001022	Albinism	HP:0040281	ORPHA:79431
7299	TYR	HP:0001022	Albinism	HP:0040281	ORPHA:79434
7299	TYR	HP:0001072	Thickened skin	HP:0040283	ORPHA:79431
7299	TYR	HP:0001072	Thickened skin	HP:0040283	ORPHA:79434
7299	TYR	HP:0005599	Hypopigmentation of hair	-	OMIM:606952
7299	TYR	HP:0005599	Hypopigmentation of hair	-	OMIM:203100
7299	TYR	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:895
7299	TYR	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:79431
7299	TYR	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:79434
7299	TYR	HP:0000639	Nystagmus	-	OMIM:203100
7299	TYR	HP:0000639	Nystagmus	-	OMIM:606952
7299	TYR	HP:0000639	Nystagmus	HP:0040281	ORPHA:79431
7299	TYR	HP:0000639	Nystagmus	HP:0040282	ORPHA:79434
7299	TYR	HP:0000635	Blue irides	-	OMIM:203100
7299	TYR	HP:0000649	Abnormality of visual evoked potentials	HP:0040282	ORPHA:79431
7299	TYR	HP:0000613	Photophobia	-	OMIM:203100
7299	TYR	HP:0000613	Photophobia	-	OMIM:606952
7299	TYR	HP:0000613	Photophobia	HP:0040281	ORPHA:79431
7299	TYR	HP:0000613	Photophobia	HP:0040282	ORPHA:79434
7299	TYR	HP:0011364	White hair	-	OMIM:203100
7299	TYR	HP:0004414	Abnormality of the pulmonary artery	HP:0040283	ORPHA:895
7299	TYR	HP:0000995	Melanocytic nevus	HP:0040282	ORPHA:79434
7299	TYR	HP:0000962	Hyperkeratosis	HP:0040283	ORPHA:79431
7299	TYR	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:79434
7299	TYR	HP:0007750	Hypoplasia of the fovea	-	OMIM:203100
7299	TYR	HP:0007750	Hypoplasia of the fovea	HP:0040281	ORPHA:79431
7299	TYR	HP:0007750	Hypoplasia of the fovea	HP:0040282	ORPHA:79434
7299	TYR	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:79431
7299	TYR	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:79434
7299	TYR	HP:0002861	Melanoma	HP:0040283	ORPHA:79434
7299	TYR	HP:0007894	Hypopigmentation of the fundus	-	OMIM:606952
7299	TYR	HP:0000365	Hearing impairment	HP:0040281	ORPHA:895
7299	TYR	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:895
7299	TYR	HP:0000483	Astigmatism	-	OMIM:203100
7299	TYR	HP:0000486	Strabismus	-	OMIM:203100
7299	TYR	HP:0000486	Strabismus	HP:0040281	ORPHA:79434
7299	TYR	HP:0006739	Squamous cell carcinoma of the skin	HP:0040283	ORPHA:79431
7299	TYR	HP:0006739	Squamous cell carcinoma of the skin	HP:0040283	ORPHA:79434
7299	TYR	HP:0000506	Telecanthus	HP:0040283	ORPHA:895
7299	TYR	HP:0000508	Ptosis	HP:0040283	ORPHA:895
7299	TYR	HP:0000505	Visual impairment	-	OMIM:203100
7299	TYR	HP:0000505	Visual impairment	-	OMIM:606952
7299	TYR	HP:0000505	Visual impairment	HP:0040282	ORPHA:79431
7299	TYR	HP:0000505	Visual impairment	HP:0040282	ORPHA:79434
7299	TYR	HP:0000577	Exotropia	-	OMIM:203100
7299	TYR	HP:0000587	Abnormal optic nerve morphology	HP:0040282	ORPHA:79431
7299	TYR	HP:0000587	Abnormal optic nerve morphology	HP:0040282	ORPHA:79434
7299	TYR	HP:0000539	Abnormality of refraction	-	OMIM:203100
7299	TYR	HP:0000545	Myopia	-	OMIM:203100
7305	TYROBP	HP:0001155	Abnormality of the hand	-	OMIM:221770
7305	TYROBP	HP:0002488	Acute leukemia	HP:0040283	ORPHA:2770
7305	TYROBP	HP:0002476	Primitive reflex	-	OMIM:221770
7305	TYROBP	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7305	TYROBP	HP:0001293	Cranial nerve compression	-	OMIM:131300
7305	TYROBP	HP:0001288	Gait disturbance	-	OMIM:221770
7305	TYROBP	HP:0001250	Seizure	HP:0040282	ORPHA:2770
7305	TYROBP	HP:0001250	Seizure	-	OMIM:221770
7305	TYROBP	HP:0001252	Hypotonia	2/7	OMIM:615777
7305	TYROBP	HP:0001249	Intellectual disability	5/7	OMIM:615777
7305	TYROBP	HP:0001263	Global developmental delay	-	OMIM:615777
7305	TYROBP	HP:0001257	Spasticity	HP:0040282	ORPHA:2770
7305	TYROBP	HP:0001257	Spasticity	-	OMIM:221770
7305	TYROBP	HP:0002515	Waddling gait	54/102	OMIM:131300
7305	TYROBP	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:2770
7305	TYROBP	HP:0012062	Bone cyst	6/6	OMIM:221770
7305	TYROBP	HP:0012062	Bone cyst	HP:0040281	ORPHA:2770
7305	TYROBP	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:2770
7305	TYROBP	HP:0001382	Joint hypermobility	-	OMIM:615777
7305	TYROBP	HP:0000020	Urinary incontinence	-	OMIM:221770
7305	TYROBP	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7305	TYROBP	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7305	TYROBP	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7305	TYROBP	HP:0001324	Muscle weakness	40/96	OMIM:131300
7305	TYROBP	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7305	TYROBP	HP:0000007	Autosomal recessive inheritance	-	OMIM:221770
7305	TYROBP	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7305	TYROBP	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7305	TYROBP	HP:0001336	Myoclonus	-	OMIM:221770
7305	TYROBP	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:2770
7305	TYROBP	HP:0002653	Bone pain	HP:0040281	ORPHA:2770
7305	TYROBP	HP:0002650	Scoliosis	12/14	OMIM:131300
7305	TYROBP	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7305	TYROBP	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7305	TYROBP	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7305	TYROBP	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7305	TYROBP	HP:0000175	Cleft palate	2/7	OMIM:615777
7305	TYROBP	HP:0002756	Pathologic fracture	-	OMIM:221770
7305	TYROBP	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:221770
7305	TYROBP	HP:0002072	Chorea	HP:0040282	ORPHA:2770
7305	TYROBP	HP:0002059	Cerebral atrophy	-	OMIM:221770
7305	TYROBP	HP:0003388	Easy fatigability	36/76	OMIM:131300
7305	TYROBP	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7305	TYROBP	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2770
7305	TYROBP	HP:0003487	Babinski sign	-	OMIM:221770
7305	TYROBP	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:2770
7305	TYROBP	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:2770
7305	TYROBP	HP:0003447	Axonal loss	-	OMIM:221770
7305	TYROBP	HP:0002135	Basal ganglia calcification	-	OMIM:221770
7305	TYROBP	HP:0002127	Abnormal upper motor neuron morphology	-	OMIM:221770
7305	TYROBP	HP:0002186	Apraxia	-	OMIM:221770
7305	TYROBP	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:2770
7305	TYROBP	HP:0002167	Abnormal speech pattern	-	OMIM:221770
7305	TYROBP	HP:0002171	Gliosis	-	OMIM:221770
7305	TYROBP	HP:0010524	Disturbed sensory perception	HP:0040282	ORPHA:2770
7305	TYROBP	HP:0010524	Disturbed sensory perception	-	OMIM:221770
7305	TYROBP	HP:0003510	Severe short stature	7/7	OMIM:615777
7305	TYROBP	HP:0002376	Developmental regression	HP:0040281	ORPHA:2770
7305	TYROBP	HP:0002340	Caudate atrophy	-	OMIM:221770
7305	TYROBP	HP:0002353	EEG abnormality	-	OMIM:221770
7305	TYROBP	HP:0002354	Memory impairment	HP:0040281	ORPHA:2770
7305	TYROBP	HP:0002354	Memory impairment	-	OMIM:221770
7305	TYROBP	HP:0002352	Leukoencephalopathy	-	OMIM:221770
7305	TYROBP	HP:0002315	Headache	-	OMIM:131300
7305	TYROBP	HP:0004976	Knee dislocation	6/7	OMIM:615777
7305	TYROBP	HP:0009803	Short phalanx of finger	-	OMIM:615777
7305	TYROBP	HP:0009763	Limb pain	63/92	OMIM:131300
7305	TYROBP	HP:0003621	Juvenile onset	-	OMIM:131300
7305	TYROBP	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7305	TYROBP	HP:0031844	Euphoria	-	OMIM:221770
7305	TYROBP	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7305	TYROBP	HP:6001056	Out-toeing	-	OMIM:131300
7305	TYROBP	HP:0000651	Diplopia	-	OMIM:131300
7305	TYROBP	HP:0001956	Truncal obesity	2/7	OMIM:615777
7305	TYROBP	HP:0001903	Anemia	HP:0040283	OMIM:131300
7305	TYROBP	HP:0010049	Short metacarpal	-	OMIM:615777
7305	TYROBP	HP:0000678	Dental crowding	-	OMIM:615777
7305	TYROBP	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:2770
7305	TYROBP	HP:0000670	Carious teeth	-	OMIM:131300
7305	TYROBP	HP:0011304	Broad thumb	2/7	OMIM:615777
7305	TYROBP	HP:0000668	Hypodontia	-	OMIM:615777
7305	TYROBP	HP:0000664	Synophrys	-	OMIM:615777
7305	TYROBP	HP:0006956	Lateral ventricle dilatation	1/1	OMIM:221770
7305	TYROBP	HP:0004396	Poor appetite	-	OMIM:131300
7305	TYROBP	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7305	TYROBP	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7305	TYROBP	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7305	TYROBP	HP:0003026	Short long bone	7/7	OMIM:615777
7305	TYROBP	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7305	TYROBP	HP:0004349	Reduced bone mineral density	HP:0040281	ORPHA:2770
7305	TYROBP	HP:0000757	Lack of insight	-	OMIM:221770
7305	TYROBP	HP:0000751	Personality changes	HP:0040281	ORPHA:2770
7305	TYROBP	HP:0000751	Personality changes	-	OMIM:221770
7305	TYROBP	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:2770
7305	TYROBP	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7305	TYROBP	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7305	TYROBP	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7305	TYROBP	HP:0000737	Irritability	HP:0040281	ORPHA:2770
7305	TYROBP	HP:0000734	Disinhibition	HP:0040281	ORPHA:2770
7305	TYROBP	HP:0000734	Disinhibition	-	OMIM:221770
7305	TYROBP	HP:0000750	Delayed speech and language development	-	OMIM:615777
7305	TYROBP	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040283	ORPHA:2770
7305	TYROBP	HP:0000719	Inappropriate behavior	-	OMIM:221770
7305	TYROBP	HP:0000718	Aggressive behavior	-	OMIM:221770
7305	TYROBP	HP:0000727	Frontal lobe dementia	HP:0040281	ORPHA:2770
7305	TYROBP	HP:0000727	Frontal lobe dementia	-	OMIM:221770
7305	TYROBP	HP:0000726	Dementia	6/6	OMIM:221770
7305	TYROBP	HP:0000708	Atypical behavior	HP:0040281	ORPHA:2770
7305	TYROBP	HP:0011462	Young adult onset	6/6	OMIM:221770
7305	TYROBP	HP:0011461	Fetal onset	7/7	OMIM:615777
7305	TYROBP	HP:0009124	Abnormal adipose tissue morphology	HP:0040281	ORPHA:2770
7305	TYROBP	HP:0000774	Narrow chest	2/7	OMIM:615777
7305	TYROBP	HP:0000926	Platyspondyly	1/7	OMIM:615777
7305	TYROBP	HP:0003180	Flat acetabular roof	-	OMIM:615777
7305	TYROBP	HP:0004482	Relative macrocephaly	-	OMIM:615777
7305	TYROBP	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7305	TYROBP	HP:0000823	Delayed puberty	-	OMIM:131300
7305	TYROBP	HP:0000894	Short clavicles	-	OMIM:615777
7305	TYROBP	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7305	TYROBP	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7305	TYROBP	HP:0000286	Epicanthus	1/7	OMIM:615777
7305	TYROBP	HP:0000280	Coarse facial features	2/7	OMIM:615777
7305	TYROBP	HP:0002829	Arthralgia	HP:0040281	ORPHA:2770
7305	TYROBP	HP:0002827	Hip dislocation	3/7	OMIM:615777
7305	TYROBP	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2770
7305	TYROBP	HP:0000252	Microcephaly	-	OMIM:615777
7305	TYROBP	HP:0002857	Genu valgum	-	OMIM:131300
7305	TYROBP	HP:0001533	Slender build	-	OMIM:131300
7305	TYROBP	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7305	TYROBP	HP:0011096	Peripheral demyelination	-	OMIM:221770
7305	TYROBP	HP:0007807	Optic nerve compression	-	OMIM:131300
7305	TYROBP	HP:0012368	Flat face	7/7	OMIM:615777
7305	TYROBP	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7305	TYROBP	HP:0000365	Hearing impairment	10/67	OMIM:131300
7305	TYROBP	HP:0000343	Long philtrum	1/7	OMIM:615777
7305	TYROBP	HP:0011001	Increased bone mineral density	-	OMIM:131300
7305	TYROBP	HP:0000311	Round face	2/7	OMIM:615777
7305	TYROBP	HP:0002970	Genu varum	-	OMIM:615777
7305	TYROBP	HP:0000303	Mandibular prognathia	-	OMIM:131300
7305	TYROBP	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7305	TYROBP	HP:0000470	Short neck	1/7	OMIM:615777
7305	TYROBP	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7305	TYROBP	HP:0001763	Pes planus	1/7	OMIM:615777
7305	TYROBP	HP:0001760	Abnormal foot morphology	-	OMIM:221770
7305	TYROBP	HP:0001840	Metatarsus adductus	-	OMIM:615777
7305	TYROBP	HP:0000520	Proptosis	2/4	OMIM:131300
7305	TYROBP	HP:0000520	Proptosis	7/7	OMIM:615777
7305	TYROBP	HP:0000592	Blue sclerae	2/7	OMIM:615777
7305	TYROBP	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7305	TYROBP	HP:0012514	Lower limb pain	4/4	OMIM:131300
7306	TYRP1	HP:0100814	Blue nevus	HP:0040283	ORPHA:79433
7306	TYRP1	HP:0007443	Partial albinism	-	OMIM:203290
7306	TYRP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:203290
7306	TYRP1	HP:0001480	Freckling	HP:0040282	ORPHA:79433
7306	TYRP1	HP:0002227	White eyelashes	HP:0040283	ORPHA:79433
7306	TYRP1	HP:0002226	White eyebrow	HP:0040283	ORPHA:79433
7306	TYRP1	HP:0002297	Red hair	-	OMIM:203290
7306	TYRP1	HP:0002297	Red hair	HP:0040282	ORPHA:79433
7306	TYRP1	HP:0200098	Absent skin pigmentation	HP:0040283	ORPHA:79433
7306	TYRP1	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:79433
7306	TYRP1	HP:0001022	Albinism	-	OMIM:203290
7306	TYRP1	HP:0000639	Nystagmus	HP:0040282	ORPHA:79433
7306	TYRP1	HP:0000639	Nystagmus	-	OMIM:203290
7306	TYRP1	HP:0000635	Blue irides	HP:0040282	ORPHA:79433
7306	TYRP1	HP:0011358	Generalized hypopigmentation of hair	HP:0040282	ORPHA:79433
7306	TYRP1	HP:0025551	Optic nerve misrouting	HP:0040283	ORPHA:79433
7306	TYRP1	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:79433
7306	TYRP1	HP:0000486	Strabismus	HP:0040283	ORPHA:79433
7306	TYRP1	HP:0000486	Strabismus	-	OMIM:203290
7314	UBB	HP:0002463	Language impairment	HP:0040282	ORPHA:101023
7314	UBB	HP:0010863	Receptive language delay	HP:0040282	ORPHA:99772
7314	UBB	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:101023
7314	UBB	HP:0000185	Cleft soft palate	HP:0040282	ORPHA:99772
7314	UBB	HP:0000193	Bifid uvula	HP:0040280	ORPHA:99771
7314	UBB	HP:0000193	Bifid uvula	HP:0040282	ORPHA:155878
7314	UBB	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:101023
7314	UBB	HP:0410030	Cleft lip	HP:0040283	ORPHA:99771
7314	UBB	HP:0002033	Poor suck	HP:0040282	ORPHA:99772
7314	UBB	HP:0011819	Submucous cleft soft palate	HP:0040283	ORPHA:99771
7314	UBB	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:99772
7314	UBB	HP:0008376	Nasal dysarthria	HP:0040282	ORPHA:99771
7314	UBB	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:99772
7314	UBB	HP:0009088	Speech articulation difficulties	HP:0040283	ORPHA:99772
7314	UBB	HP:0011469	Nasal regurgitation	HP:0040282	ORPHA:99772
7314	UBB	HP:0011469	Nasal regurgitation	HP:0040282	ORPHA:155878
7314	UBB	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:99772
7314	UBB	HP:0002870	Obstructive sleep apnea	HP:0040282	ORPHA:101023
7314	UBB	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:99772
7314	UBB	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:155878
7314	UBB	HP:0000365	Hearing impairment	HP:0040283	ORPHA:155878
7314	UBB	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:99772
7314	UBB	HP:5201016	Submucous cleft palate	HP:0040282	ORPHA:155878
7314	UBB	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:155878
7314	UBB	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:99772
7314	UBB	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:99772
7314	UBB	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:101023
7314	UBB	HP:0011219	Short face	HP:0040283	ORPHA:99772
7317	UBA1	HP:0002460	Distal muscle weakness	HP:0040283	ORPHA:1145
7317	UBA1	HP:0007269	Spinal muscular atrophy	HP:0040282	ORPHA:1145
7317	UBA1	HP:0007269	Spinal muscular atrophy	-	OMIM:301830
7317	UBA1	HP:0002425	Anarthria	HP:0040282	ORPHA:1145
7317	UBA1	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:1145
7317	UBA1	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:1145
7317	UBA1	HP:0001284	Areflexia	HP:0040281	ORPHA:1145
7317	UBA1	HP:0001284	Areflexia	1/1	OMIM:301830
7317	UBA1	HP:0001252	Hypotonia	1/1	OMIM:301830
7317	UBA1	HP:0001220	Interphalangeal joint contracture of finger	HP:0040282	ORPHA:1145
7317	UBA1	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:1145
7317	UBA1	HP:0001371	Flexion contracture	-	OMIM:301830
7317	UBA1	HP:0001369	Arthritis	-	OMIM:301054
7317	UBA1	HP:0000054	Micropenis	-	OMIM:301830
7317	UBA1	HP:0000047	Hypospadias	-	OMIM:301830
7317	UBA1	HP:0000023	Inguinal hernia	-	OMIM:301830
7317	UBA1	HP:0000028	Cryptorchidism	-	OMIM:301830
7317	UBA1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1145
7317	UBA1	HP:0012089	Arteritis	-	OMIM:301054
7317	UBA1	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:1145
7317	UBA1	HP:0001308	Tongue fasciculations	1/1	OMIM:301830
7317	UBA1	HP:0002650	Scoliosis	-	OMIM:301830
7317	UBA1	HP:0002625	Deep venous thrombosis	-	OMIM:301054
7317	UBA1	HP:0008947	Floppy infant	HP:0040282	ORPHA:1145
7317	UBA1	HP:0001442	Typified by somatic mosaicism	-	OMIM:301054
7317	UBA1	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:1145
7317	UBA1	HP:0031234	Neutrophilic infiltration of the skin	-	OMIM:301054
7317	UBA1	HP:0001419	X-linked recessive inheritance	-	OMIM:301830
7317	UBA1	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:301830
7317	UBA1	HP:0002033	Poor suck	HP:0040281	ORPHA:1145
7317	UBA1	HP:0002009	Potter facies	HP:0040283	ORPHA:1145
7317	UBA1	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:1145
7317	UBA1	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:1145
7317	UBA1	HP:0002098	Respiratory distress	HP:0040282	ORPHA:1145
7317	UBA1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:1145
7317	UBA1	HP:0002093	Respiratory insufficiency	-	OMIM:301830
7317	UBA1	HP:0002058	Myopathic facies	HP:0040282	ORPHA:1145
7317	UBA1	HP:0002058	Myopathic facies	1/1	OMIM:301830
7317	UBA1	HP:0008180	Mildly elevated creatine kinase	HP:0040283	ORPHA:1145
7317	UBA1	HP:0002113	Pulmonary infiltrates	18/25	OMIM:301054
7317	UBA1	HP:0003445	EMG: neuropathic changes	HP:0040281	ORPHA:1145
7317	UBA1	HP:0003596	Middle age onset	-	OMIM:301054
7317	UBA1	HP:0003565	Elevated erythrocyte sedimentation rate	-	OMIM:301054
7317	UBA1	HP:0033380	Nasal chondritis	16/25	OMIM:301054
7317	UBA1	HP:0033383	Decreased compound muscle action potential amplitude	1/1	OMIM:301830
7317	UBA1	HP:0010628	Facial palsy	-	OMIM:301830
7317	UBA1	HP:0002398	Degeneration of anterior horn cells	-	OMIM:301830
7317	UBA1	HP:0002398	Degeneration of anterior horn cells	HP:0040281	ORPHA:1145
7317	UBA1	HP:0200035	Skin plaque	-	OMIM:301054
7317	UBA1	HP:0200047	Chondritis of pinna	16/25	OMIM:301054
7317	UBA1	HP:0020110	Bone fracture	HP:0040282	ORPHA:1145
7317	UBA1	HP:0003623	Neonatal onset	1/1	OMIM:301830
7317	UBA1	HP:0007178	Motor polyneuropathy	HP:0040283	ORPHA:1145
7317	UBA1	HP:0006829	Severe muscular hypotonia	-	OMIM:301830
7317	UBA1	HP:0006802	Abnormal anterior horn cell morphology	HP:0040281	ORPHA:1145
7317	UBA1	HP:0009071	Inflammatory myopathy	HP:0040282	ORPHA:1145
7317	UBA1	HP:0001972	Macrocytic anemia	24/25	OMIM:301054
7317	UBA1	HP:0001954	Recurrent fever	23/25	OMIM:301054
7317	UBA1	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:301830
7317	UBA1	HP:0001907	Thromboembolism	11/25	OMIM:301054
7317	UBA1	HP:0004303	Abnormal muscle fiber morphology	HP:0040281	ORPHA:1145
7317	UBA1	HP:0000773	Short ribs	HP:0040282	ORPHA:1145
7317	UBA1	HP:0003198	Myopathy	-	OMIM:301830
7317	UBA1	HP:0000887	Cupped ribs	HP:0040282	ORPHA:1145
7317	UBA1	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:301830
7317	UBA1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:1145
7317	UBA1	HP:0003273	Hip contracture	HP:0040282	ORPHA:1145
7317	UBA1	HP:0006466	Ankle flexion contracture	HP:0040282	ORPHA:1145
7317	UBA1	HP:0030057	Autoimmune antibody positivity	-	OMIM:301054
7317	UBA1	HP:0002829	Arthralgia	-	OMIM:301054
7317	UBA1	HP:0002828	Multiple joint contractures	-	OMIM:301830
7317	UBA1	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:301830
7317	UBA1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:1145
7317	UBA1	HP:0006380	Knee flexion contracture	HP:0040282	ORPHA:1145
7317	UBA1	HP:0000218	High palate	HP:0040282	ORPHA:1145
7317	UBA1	HP:0001558	Decreased fetal movement	-	OMIM:301830
7317	UBA1	HP:0002863	Myelodysplasia	-	OMIM:301054
7317	UBA1	HP:0012378	Fatigue	-	OMIM:301054
7317	UBA1	HP:0001612	Weak cry	1/1	OMIM:301830
7317	UBA1	HP:0000347	Micrognathia	-	OMIM:301830
7317	UBA1	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:1145
7317	UBA1	HP:0030166	Night sweats	-	OMIM:301054
7317	UBA1	HP:0030319	Weakness of facial musculature	HP:0040283	ORPHA:1145
7317	UBA1	HP:0032988	Persistent head lag	1/1	OMIM:301830
7317	UBA1	HP:0000407	Sensorineural hearing impairment	-	OMIM:301054
7317	UBA1	HP:0011123	Inflammatory abnormality of the skin	-	OMIM:301054
7317	UBA1	HP:0000508	Ptosis	-	OMIM:301830
7317	UBA1	HP:0031688	Erythroid dysplasia	-	OMIM:301054
7317	UBA1	HP:0031689	Megakaryocyte dysplasia	-	OMIM:301054
7317	UBA1	HP:0011227	Elevated circulating C-reactive protein concentration	-	OMIM:301054
7317	UBA1	HP:0001873	Thrombocytopenia	-	OMIM:301054
7319	UBE2A	HP:0002465	Poor speech	1/3	OMIM:300860
7319	UBE2A	HP:0002465	Poor speech	HP:0040281	ORPHA:163956
7319	UBE2A	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0100838	Recurrent cutaneous abscess formation	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0001250	Seizure	6/8	OMIM:300860
7319	UBE2A	HP:0001250	Seizure	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0001249	Intellectual disability	4/4	OMIM:300860
7319	UBE2A	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0000085	Horseshoe kidney	1/5	OMIM:300860
7319	UBE2A	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0000054	Micropenis	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0000054	Micropenis	7/8	OMIM:300860
7319	UBE2A	HP:0000047	Hypospadias	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0007509	Patchy hypo- and hyperpigmentation	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0001344	Absent speech	3/8	OMIM:300860
7319	UBE2A	HP:0000154	Wide mouth	HP:0040281	ORPHA:163956
7319	UBE2A	HP:0000154	Wide mouth	7/8	OMIM:300860
7319	UBE2A	HP:0410018	Recurrent ear infections	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0001419	X-linked recessive inheritance	-	OMIM:300860
7319	UBE2A	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0002714	Downturned corners of mouth	3/3	OMIM:300860
7319	UBE2A	HP:0004691	2-3 toe syndactyly	1/5	OMIM:300860
7319	UBE2A	HP:0002002	Deep philtrum	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0011800	Midface retrusion	2/3	OMIM:300860
7319	UBE2A	HP:0011800	Midface retrusion	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0011913	Lumbar hypertrichosis	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0002194	Delayed gross motor development	HP:0040281	ORPHA:163956
7319	UBE2A	HP:0002162	Low posterior hairline	6/8	OMIM:300860
7319	UBE2A	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0010529	Echolalia	3/5	OMIM:300860
7319	UBE2A	HP:0010529	Echolalia	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0003593	Infantile onset	5/5	OMIM:300860
7319	UBE2A	HP:0100716	Self-injurious behavior	2/5	OMIM:300860
7319	UBE2A	HP:0002230	Generalized hirsutism	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0010721	Abnormal hair whorl	6/8	OMIM:300860
7319	UBE2A	HP:0010721	Abnormal hair whorl	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0008404	Nail dystrophy	4/8	OMIM:300860
7319	UBE2A	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0001007	Hirsutism	7/8	OMIM:300860
7319	UBE2A	HP:0007103	Hypointensity of cerebral white matter on MRI	2/2	OMIM:300860
7319	UBE2A	HP:0007103	Hypointensity of cerebral white matter on MRI	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0009765	Low hanging columella	HP:0040281	ORPHA:163956
7319	UBE2A	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0005590	Spotty hypopigmentation	2/5	OMIM:300860
7319	UBE2A	HP:0010055	Broad hallux	5/5	OMIM:300860
7319	UBE2A	HP:0000664	Synophrys	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0000664	Synophrys	8/8	OMIM:300860
7319	UBE2A	HP:0004324	Increased body weight	1/5	OMIM:300860
7319	UBE2A	HP:0000750	Delayed speech and language development	5/5	OMIM:300860
7319	UBE2A	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0000718	Aggressive behavior	2/5	OMIM:300860
7319	UBE2A	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0004467	Preauricular pit	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0003265	Neonatal hyperbilirubinemia	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0000958	Dry skin	HP:0040281	ORPHA:163956
7319	UBE2A	HP:0000958	Dry skin	3/3	OMIM:300860
7319	UBE2A	HP:0000283	Broad face	2/3	OMIM:300860
7319	UBE2A	HP:0000256	Macrocephaly	1/5	OMIM:300860
7319	UBE2A	HP:0000256	Macrocephaly	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0000272	Malar flattening	2/3	OMIM:300860
7319	UBE2A	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0000233	Thin vermilion border	3/3	OMIM:300860
7319	UBE2A	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0007874	Almond-shaped palpebral fissure	5/5	OMIM:300860
7319	UBE2A	HP:0000365	Hearing impairment	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0000336	Prominent supraorbital ridges	5/5	OMIM:300860
7319	UBE2A	HP:0000348	High forehead	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0000316	Hypertelorism	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0000316	Hypertelorism	1/8	OMIM:300860
7319	UBE2A	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0006610	Wide intermamillary distance	7/8	OMIM:300860
7319	UBE2A	HP:0006610	Wide intermamillary distance	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0030311	Lower extremity joint dislocation	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0005345	Abnormal vena cava morphology	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0000400	Macrotia	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0001719	Double outlet right ventricle	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0001718	Mitral stenosis	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0005280	Depressed nasal bridge	3/8	OMIM:300860
7319	UBE2A	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0000486	Strabismus	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0000490	Deeply set eye	5/5	OMIM:300860
7319	UBE2A	HP:0012450	Chronic constipation	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0000475	Broad neck	3/3	OMIM:300860
7319	UBE2A	HP:0000475	Broad neck	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0000470	Short neck	6/8	OMIM:300860
7319	UBE2A	HP:0001773	Short foot	3/3	OMIM:300860
7319	UBE2A	HP:0001773	Short foot	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0001763	Pes planus	3/3	OMIM:300860
7319	UBE2A	HP:0001776	Bilateral talipes equinovarus	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0000430	Underdeveloped nasal alae	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0001761	Pes cavus	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0000519	Developmental cataract	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0001845	Overlapping toe	HP:0040283	ORPHA:163956
7319	UBE2A	HP:0000582	Upslanted palpebral fissure	3/8	OMIM:300860
7319	UBE2A	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:163956
7319	UBE2A	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:163956
7332	UBE2L3	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
7332	UBE2L3	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
7332	UBE2L3	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
7332	UBE2L3	HP:0001250	Seizure	HP:0040283	ORPHA:536
7332	UBE2L3	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
7332	UBE2L3	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
7332	UBE2L3	HP:0001369	Arthritis	HP:0040282	ORPHA:536
7332	UBE2L3	HP:0033834	Malaise	HP:0040281	ORPHA:536
7332	UBE2L3	HP:0012085	Pyuria	HP:0040282	ORPHA:536
7332	UBE2L3	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
7332	UBE2L3	HP:0025300	Malar rash	HP:0040282	ORPHA:536
7332	UBE2L3	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
7332	UBE2L3	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
7332	UBE2L3	HP:0002072	Chorea	HP:0040284	ORPHA:536
7332	UBE2L3	HP:0002039	Anorexia	HP:0040281	ORPHA:536
7332	UBE2L3	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
7332	UBE2L3	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
7332	UBE2L3	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
7332	UBE2L3	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
7332	UBE2L3	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
7332	UBE2L3	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
7332	UBE2L3	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
7332	UBE2L3	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
7332	UBE2L3	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
7332	UBE2L3	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
7332	UBE2L3	HP:0001945	Fever	HP:0040281	ORPHA:536
7332	UBE2L3	HP:0000716	Depression	HP:0040283	ORPHA:536
7332	UBE2L3	HP:0000790	Hematuria	HP:0040282	ORPHA:536
7332	UBE2L3	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
7332	UBE2L3	HP:0000822	Hypertension	HP:0040282	ORPHA:536
7332	UBE2L3	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
7332	UBE2L3	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
7332	UBE2L3	HP:0045073	Serositis	HP:0040283	ORPHA:536
7332	UBE2L3	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
7332	UBE2L3	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
7332	UBE2L3	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
7332	UBE2L3	HP:0001596	Alopecia	HP:0040282	ORPHA:536
7332	UBE2L3	HP:0012378	Fatigue	HP:0040281	ORPHA:536
7332	UBE2L3	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
7332	UBE2L3	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
7332	UBE2L3	HP:0001824	Weight loss	HP:0040281	ORPHA:536
7332	UBE2L3	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
7332	UBE2L3	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
7332	UBE2L3	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
7337	UBE3A	HP:0002465	Poor speech	HP:0040283	ORPHA:98794
7337	UBE3A	HP:0002465	Poor speech	HP:0040282	ORPHA:98795
7337	UBE3A	HP:0002465	Poor speech	HP:0040283	ORPHA:411515
7337	UBE3A	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040283	ORPHA:98795
7337	UBE3A	HP:0007270	Atypical absence seizure	HP:0040283	ORPHA:98795
7337	UBE3A	HP:0007240	Progressive gait ataxia	-	OMIM:105830
7337	UBE3A	HP:0010864	Intellectual disability, severe	27/27	OMIM:105830
7337	UBE3A	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0003745	Sporadic	HP:0040282	OMIM:105830
7337	UBE3A	HP:0001290	Generalized hypotonia	-	OMIM:105830
7337	UBE3A	HP:0001270	Motor delay	27/27	OMIM:105830
7337	UBE3A	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:411511
7337	UBE3A	HP:0001250	Seizure	HP:0040282	ORPHA:411511
7337	UBE3A	HP:0001250	Seizure	HP:0040282	ORPHA:411515
7337	UBE3A	HP:0001250	Seizure	26/27	OMIM:105830
7337	UBE3A	HP:0001250	Seizure	HP:0040282	ORPHA:238446
7337	UBE3A	HP:0001250	Seizure	HP:0040281	ORPHA:98794
7337	UBE3A	HP:0001250	Seizure	HP:0040282	ORPHA:98795
7337	UBE3A	HP:0001252	Hypotonia	-	OMIM:105830
7337	UBE3A	HP:0001252	Hypotonia	HP:0040281	ORPHA:238446
7337	UBE3A	HP:0001251	Ataxia	HP:0040283	ORPHA:98794
7337	UBE3A	HP:0001251	Ataxia	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0001251	Ataxia	HP:0040283	ORPHA:411515
7337	UBE3A	HP:0001251	Ataxia	27/27	OMIM:105830
7337	UBE3A	HP:0001251	Ataxia	HP:0040283	ORPHA:238446
7337	UBE3A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:238446
7337	UBE3A	HP:0001249	Intellectual disability	HP:0040282	ORPHA:98795
7337	UBE3A	HP:0002591	Polyphagia	HP:0040282	ORPHA:411515
7337	UBE3A	HP:0001263	Global developmental delay	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0001263	Global developmental delay	27/27	OMIM:105830
7337	UBE3A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:238446
7337	UBE3A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:98794
7337	UBE3A	HP:0001263	Global developmental delay	HP:0040282	ORPHA:98795
7337	UBE3A	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:238446
7337	UBE3A	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:411515
7337	UBE3A	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:238446
7337	UBE3A	HP:0001347	Hyperreflexia	-	OMIM:105830
7337	UBE3A	HP:0008872	Feeding difficulties in infancy	20/26	OMIM:105830
7337	UBE3A	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:411515
7337	UBE3A	HP:0001344	Absent speech	27/27	OMIM:105830
7337	UBE3A	HP:0001344	Absent speech	HP:0040283	ORPHA:98794
7337	UBE3A	HP:0001344	Absent speech	HP:0040283	ORPHA:411515
7337	UBE3A	HP:0001337	Tremor	HP:0040283	ORPHA:98794
7337	UBE3A	HP:0000006	Autosomal dominant inheritance	-	OMIM:105830
7337	UBE3A	HP:0001336	Myoclonus	HP:0040283	ORPHA:98794
7337	UBE3A	HP:0002650	Scoliosis	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0002650	Scoliosis	-	OMIM:105830
7337	UBE3A	HP:0000158	Macroglossia	-	OMIM:105830
7337	UBE3A	HP:0000154	Wide mouth	-	OMIM:105830
7337	UBE3A	HP:0000154	Wide mouth	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0000154	Wide mouth	HP:0040282	ORPHA:98795
7337	UBE3A	HP:0000154	Wide mouth	HP:0040282	ORPHA:411511
7337	UBE3A	HP:0000154	Wide mouth	HP:0040283	ORPHA:411515
7337	UBE3A	HP:0008947	Floppy infant	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0008947	Floppy infant	HP:0040283	ORPHA:98795
7337	UBE3A	HP:0008947	Floppy infant	HP:0040282	ORPHA:411511
7337	UBE3A	HP:0008947	Floppy infant	HP:0040282	ORPHA:411515
7337	UBE3A	HP:0002019	Constipation	-	OMIM:105830
7337	UBE3A	HP:0002019	Constipation	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0002033	Poor suck	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0002033	Poor suck	HP:0040283	ORPHA:98795
7337	UBE3A	HP:0002033	Poor suck	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0002015	Dysphagia	HP:0040283	ORPHA:98794
7337	UBE3A	HP:0002015	Dysphagia	HP:0040283	ORPHA:98795
7337	UBE3A	HP:0002015	Dysphagia	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:98795
7337	UBE3A	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0002046	Heat intolerance	HP:0040283	ORPHA:98794
7337	UBE3A	HP:0002046	Heat intolerance	HP:0040283	ORPHA:98795
7337	UBE3A	HP:0002046	Heat intolerance	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0002141	Gait imbalance	HP:0040283	ORPHA:98794
7337	UBE3A	HP:0002141	Gait imbalance	HP:0040283	ORPHA:98795
7337	UBE3A	HP:0002141	Gait imbalance	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0002120	Cerebral cortical atrophy	-	OMIM:105830
7337	UBE3A	HP:0002136	Broad-based gait	HP:0040283	ORPHA:98794
7337	UBE3A	HP:0002136	Broad-based gait	HP:0040283	ORPHA:98795
7337	UBE3A	HP:0002136	Broad-based gait	HP:0040281	OMIM:105830
7337	UBE3A	HP:0002136	Broad-based gait	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0002136	Broad-based gait	HP:0040283	ORPHA:411515
7337	UBE3A	HP:0002186	Apraxia	HP:0040282	ORPHA:238446
7337	UBE3A	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:98795
7337	UBE3A	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0010505	Limitation of movement at ankles	HP:0040283	ORPHA:98794
7337	UBE3A	HP:0100703	Tongue thrusting	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0100703	Tongue thrusting	HP:0040282	ORPHA:98795
7337	UBE3A	HP:0100703	Tongue thrusting	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0100738	Abnormal eating behavior	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0100738	Abnormal eating behavior	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0002286	Fair hair	-	OMIM:105830
7337	UBE3A	HP:0200085	Limb tremor	-	OMIM:105830
7337	UBE3A	HP:0007018	Attention deficit hyperactivity disorder	HP:0040281	ORPHA:238446
7337	UBE3A	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:98795
7337	UBE3A	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:98795
7337	UBE3A	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:411511
7337	UBE3A	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:98795
7337	UBE3A	HP:0001010	Hypopigmentation of the skin	19/26	OMIM:105830
7337	UBE3A	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:411511
7337	UBE3A	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:411515
7337	UBE3A	HP:0002353	EEG abnormality	35/35	OMIM:105830
7337	UBE3A	HP:0002353	EEG abnormality	HP:0040281	ORPHA:98794
7337	UBE3A	HP:0002353	EEG abnormality	HP:0040282	ORPHA:98795
7337	UBE3A	HP:0002353	EEG abnormality	HP:0040282	ORPHA:411511
7337	UBE3A	HP:0002353	EEG abnormality	HP:0040282	ORPHA:411515
7337	UBE3A	HP:0010808	Protruding tongue	-	OMIM:105830
7337	UBE3A	HP:0010808	Protruding tongue	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0010808	Protruding tongue	HP:0040282	ORPHA:98795
7337	UBE3A	HP:0010808	Protruding tongue	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0002312	Clumsiness	HP:0040281	OMIM:105830
7337	UBE3A	HP:0002307	Drooling	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0002307	Drooling	-	OMIM:105830
7337	UBE3A	HP:0002307	Drooling	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0002307	Drooling	HP:0040283	ORPHA:411515
7337	UBE3A	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:238446
7337	UBE3A	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:98795
7337	UBE3A	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:411511
7337	UBE3A	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:411515
7337	UBE3A	HP:0006887	Intellectual disability, progressive	-	OMIM:105830
7337	UBE3A	HP:0000639	Nystagmus	-	OMIM:105830
7337	UBE3A	HP:0000635	Blue irides	-	OMIM:105830
7337	UBE3A	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:98795
7337	UBE3A	HP:0000687	Widely spaced teeth	-	OMIM:105830
7337	UBE3A	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:411511
7337	UBE3A	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:411515
7337	UBE3A	HP:0004322	Short stature	HP:0040283	ORPHA:238446
7337	UBE3A	HP:0006979	Sleep-wake cycle disturbance	18/21	OMIM:105830
7337	UBE3A	HP:0006979	Sleep-wake cycle disturbance	HP:0040283	ORPHA:411515
7337	UBE3A	HP:0004302	Functional motor deficit	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:238446
7337	UBE3A	HP:0031936	Delayed ability to walk	22/22	OMIM:105830
7337	UBE3A	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:411515
7337	UBE3A	HP:0000752	Hyperactivity	-	OMIM:105830
7337	UBE3A	HP:0000752	Hyperactivity	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0000752	Hyperactivity	HP:0040283	ORPHA:411515
7337	UBE3A	HP:0100022	Abnormality of movement	HP:0040283	ORPHA:98794
7337	UBE3A	HP:0100022	Abnormality of movement	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0100023	Recurrent hand flapping	HP:0040283	ORPHA:98794
7337	UBE3A	HP:0100023	Recurrent hand flapping	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0000736	Short attention span	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0000736	Short attention span	HP:0040283	ORPHA:411515
7337	UBE3A	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:238446
7337	UBE3A	HP:0000749	Paroxysmal bursts of laughter	-	OMIM:105830
7337	UBE3A	HP:0000748	Inappropriate laughter	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0000748	Inappropriate laughter	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0000748	Inappropriate laughter	HP:0040282	ORPHA:411515
7337	UBE3A	HP:0000717	Autism	HP:0040282	ORPHA:238446
7337	UBE3A	HP:0000710	Hyperorality	HP:0040283	ORPHA:411515
7337	UBE3A	HP:0000729	Autistic behavior	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0000722	Compulsive behaviors	HP:0040281	ORPHA:238446
7337	UBE3A	HP:0000708	Atypical behavior	HP:0040283	ORPHA:411515
7337	UBE3A	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:98794
7337	UBE3A	HP:0004485	Cessation of head growth	HP:0040281	ORPHA:98794
7337	UBE3A	HP:0004485	Cessation of head growth	HP:0040283	ORPHA:98795
7337	UBE3A	HP:0004485	Cessation of head growth	HP:0040282	ORPHA:411511
7337	UBE3A	HP:0004485	Cessation of head growth	HP:0040283	ORPHA:411515
7337	UBE3A	HP:0040082	Happy demeanor	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0040082	Happy demeanor	27/27	OMIM:105830
7337	UBE3A	HP:0040082	Happy demeanor	HP:0040282	ORPHA:411511
7337	UBE3A	HP:0040082	Happy demeanor	HP:0040282	ORPHA:411515
7337	UBE3A	HP:0033063	Shortened sleep phase	HP:0040283	ORPHA:98794
7337	UBE3A	HP:0040196	Mild microcephaly	HP:0040283	ORPHA:98794
7337	UBE3A	HP:0040196	Mild microcephaly	HP:0040282	ORPHA:411511
7337	UBE3A	HP:0000286	Epicanthus	HP:0040283	ORPHA:238446
7337	UBE3A	HP:0000298	Mask-like facies	HP:0040283	ORPHA:238446
7337	UBE3A	HP:0000256	Macrocephaly	HP:0040283	ORPHA:238446
7337	UBE3A	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:98795
7337	UBE3A	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:411511
7337	UBE3A	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:411515
7337	UBE3A	HP:0000248	Brachycephaly	-	OMIM:105830
7337	UBE3A	HP:0001513	Obesity	-	OMIM:105830
7337	UBE3A	HP:0001513	Obesity	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0001513	Obesity	HP:0040282	ORPHA:411511
7337	UBE3A	HP:0001513	Obesity	HP:0040282	ORPHA:411515
7337	UBE3A	HP:0000327	Hypoplasia of the maxilla	-	OMIM:105830
7337	UBE3A	HP:0000303	Mandibular prognathia	-	OMIM:105830
7337	UBE3A	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:98794
7337	UBE3A	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:98795
7337	UBE3A	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:411515
7337	UBE3A	HP:0011185	EEG with focal epileptiform discharges	HP:0040283	ORPHA:98795
7337	UBE3A	HP:0000486	Strabismus	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0000486	Strabismus	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0000486	Strabismus	-	OMIM:105830
7337	UBE3A	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:238446
7337	UBE3A	HP:0000490	Deeply set eye	-	OMIM:105830
7337	UBE3A	HP:0012448	Delayed myelination	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0005484	Secondary microcephaly	HP:0040281	ORPHA:98794
7337	UBE3A	HP:0005484	Secondary microcephaly	HP:0040283	ORPHA:98795
7337	UBE3A	HP:0005484	Secondary microcephaly	20/20	OMIM:105830
7337	UBE3A	HP:0005484	Secondary microcephaly	HP:0040282	ORPHA:411511
7337	UBE3A	HP:0005469	Flat occiput	-	OMIM:105830
7337	UBE3A	HP:0005469	Flat occiput	HP:0040282	ORPHA:98794
7337	UBE3A	HP:0005469	Flat occiput	HP:0040283	ORPHA:411511
7337	UBE3A	HP:0000577	Exotropia	-	OMIM:105830
7337	UBE3A	HP:0011203	EEG with abnormally slow frequencies	HP:0040281	ORPHA:98794
7337	UBE3A	HP:0000545	Myopia	-	OMIM:105830
7341	SUMO1	HP:0003745	Sporadic	-	OMIM:613705
7341	SUMO1	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:99798
7341	SUMO1	HP:0006344	Abnormal primary molar morphology	HP:0040283	ORPHA:99798
7341	SUMO1	HP:0006336	Short dental root	HP:0040282	ORPHA:99798
7341	SUMO1	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:99798
7341	SUMO1	HP:0006289	Agenesis of central incisor	HP:0040282	ORPHA:99798
7341	SUMO1	HP:0003577	Congenital onset	1/1	OMIM:613705
7341	SUMO1	HP:0000696	Delayed eruption of permanent teeth	HP:0040282	ORPHA:99798
7341	SUMO1	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:99798
7341	SUMO1	HP:0000679	Taurodontia	HP:0040283	ORPHA:99798
7341	SUMO1	HP:0000677	Oligodontia	HP:0040280	ORPHA:99798
7341	SUMO1	HP:0000691	Microdontia	HP:0040282	ORPHA:99798
7341	SUMO1	HP:0000690	Agenesis of maxillary lateral incisor	HP:0040282	ORPHA:99798
7341	SUMO1	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:99798
7341	SUMO1	HP:0000685	Hypoplasia of teeth	HP:0040283	ORPHA:99798
7341	SUMO1	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:99798
7341	SUMO1	HP:0100333	Unilateral cleft lip	1/1	OMIM:613705
7341	SUMO1	HP:0100334	Unilateral cleft palate	1/1	OMIM:613705
7341	SUMO1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:99798
7341	SUMO1	HP:0011078	Abnormality of canine	HP:0040283	ORPHA:99798
7341	SUMO1	HP:0011053	Agenesis of mandibular premolar	HP:0040283	ORPHA:99798
7341	SUMO1	HP:0011051	Agenesis of premolar	HP:0040282	ORPHA:99798
7341	SUMO1	HP:0011056	Agenesis of first permanent molar tooth	HP:0040282	ORPHA:99798
7341	SUMO1	HP:0005216	Impaired mastication	HP:0040281	ORPHA:99798
7341	SUMO1	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:99798
7341	SUMO1	HP:0012472	Eclabion	HP:0040283	ORPHA:99798
7341	SUMO1	HP:0011219	Short face	HP:0040283	ORPHA:99798
7343	UBTF	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:500180
7343	UBTF	HP:0007256	Abnormal pyramidal sign	HP:0040284	OMIM:617672
7343	UBTF	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:500180
7343	UBTF	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:500180
7343	UBTF	HP:0001272	Cerebellar atrophy	5/7	OMIM:617672
7343	UBTF	HP:0001268	Mental deterioration	-	OMIM:617672
7343	UBTF	HP:0001250	Seizure	2/7	OMIM:617672
7343	UBTF	HP:0001250	Seizure	HP:0040282	ORPHA:500180
7343	UBTF	HP:0001251	Ataxia	3/7	OMIM:617672
7343	UBTF	HP:0001260	Dysarthria	HP:0040281	ORPHA:500180
7343	UBTF	HP:0001263	Global developmental delay	3/7	OMIM:617672
7343	UBTF	HP:0001263	Global developmental delay	HP:0040282	ORPHA:500180
7343	UBTF	HP:0001257	Spasticity	6/7	OMIM:617672
7343	UBTF	HP:0001257	Spasticity	HP:0040282	ORPHA:500180
7343	UBTF	HP:0002540	Inability to walk	6/7	OMIM:617672
7343	UBTF	HP:0002540	Inability to walk	HP:0040282	ORPHA:500180
7343	UBTF	HP:0002509	Limb hypertonia	HP:0040283	ORPHA:500180
7343	UBTF	HP:0001332	Dystonia	4/7	OMIM:617672
7343	UBTF	HP:0001332	Dystonia	HP:0040282	ORPHA:500180
7343	UBTF	HP:0001344	Absent speech	7/7	OMIM:617672
7343	UBTF	HP:0001344	Absent speech	HP:0040282	ORPHA:500180
7343	UBTF	HP:0000006	Autosomal dominant inheritance	-	OMIM:617672
7343	UBTF	HP:0001300	Parkinsonism	1/7	OMIM:617672
7343	UBTF	HP:0008947	Floppy infant	HP:0040283	ORPHA:500180
7343	UBTF	HP:0002015	Dysphagia	-	OMIM:617672
7343	UBTF	HP:0002015	Dysphagia	HP:0040281	ORPHA:500180
7343	UBTF	HP:0002066	Gait ataxia	HP:0040282	ORPHA:500180
7343	UBTF	HP:0002063	Rigidity	1/7	OMIM:617672
7343	UBTF	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:617672
7343	UBTF	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:500180
7343	UBTF	HP:0002072	Chorea	1/7	OMIM:617672
7343	UBTF	HP:0002072	Chorea	HP:0040283	ORPHA:500180
7343	UBTF	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:617672
7343	UBTF	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:500180
7343	UBTF	HP:0002059	Cerebral atrophy	7/7	OMIM:617672
7343	UBTF	HP:0002059	Cerebral atrophy	HP:0040281	ORPHA:500180
7343	UBTF	HP:0002120	Cerebral cortical atrophy	-	OMIM:617672
7343	UBTF	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:500180
7343	UBTF	HP:0003447	Axonal loss	-	OMIM:617672
7343	UBTF	HP:0002187	Intellectual disability, profound	7/7	OMIM:617672
7343	UBTF	HP:0002187	Intellectual disability, profound	HP:0040282	ORPHA:500180
7343	UBTF	HP:0002180	Neurodegeneration	-	OMIM:617672
7343	UBTF	HP:0003593	Infantile onset	3/7	OMIM:617672
7343	UBTF	HP:0100710	Impulsivity	HP:0040283	ORPHA:500180
7343	UBTF	HP:0011968	Feeding difficulties	-	OMIM:617672
7343	UBTF	HP:0002381	Aphasia	HP:0040282	ORPHA:500180
7343	UBTF	HP:0002376	Developmental regression	7/7	OMIM:617672
7343	UBTF	HP:0002376	Developmental regression	HP:0040281	ORPHA:500180
7343	UBTF	HP:0002353	EEG abnormality	HP:0040282	ORPHA:500180
7343	UBTF	HP:0004325	Decreased body weight	-	OMIM:617672
7343	UBTF	HP:0000752	Hyperactivity	HP:0040283	ORPHA:500180
7343	UBTF	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:500180
7343	UBTF	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:500180
7343	UBTF	HP:0000729	Autistic behavior	HP:0040283	ORPHA:500180
7343	UBTF	HP:0000708	Atypical behavior	HP:0040281	ORPHA:500180
7343	UBTF	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:500180
7343	UBTF	HP:0011463	Childhood onset	4/7	OMIM:617672
7343	UBTF	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040281	ORPHA:500180
7343	UBTF	HP:0030890	Hyperintensity of cerebral white matter on MRI	7/7	OMIM:617672
7343	UBTF	HP:0002808	Kyphosis	HP:0040283	ORPHA:500180
7343	UBTF	HP:0000252	Microcephaly	HP:0040282	ORPHA:500180
7343	UBTF	HP:0011096	Peripheral demyelination	-	OMIM:617672
7343	UBTF	HP:0005484	Secondary microcephaly	5/7	OMIM:617672
7345	UCHL1	HP:0002486	Myotonia	2/6	OMIM:615491
7345	UCHL1	HP:0001152	Saccadic smooth pursuit	16/31	OMIM:620221
7345	UCHL1	HP:0002495	Impaired vibratory sensation	24/31	OMIM:620221
7345	UCHL1	HP:0002495	Impaired vibratory sensation	3/3	OMIM:615491
7345	UCHL1	HP:0010871	Sensory ataxia	2/31	OMIM:620221
7345	UCHL1	HP:0002411	Myokymia	1/3	OMIM:615491
7345	UCHL1	HP:0025269	Panic attack	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0001272	Cerebellar atrophy	4/6	OMIM:615491
7345	UCHL1	HP:0002599	Head titubation	4/6	OMIM:615491
7345	UCHL1	HP:0001251	Ataxia	3/3	OMIM:615491
7345	UCHL1	HP:0001249	Intellectual disability	0/3	OMIM:615491
7345	UCHL1	HP:0002578	Gastroparesis	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0001260	Dysarthria	9/31	OMIM:620221
7345	UCHL1	HP:0001258	Spastic paraplegia	-	OMIM:615491
7345	UCHL1	HP:0001257	Spasticity	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	-	OMIM:613643
7345	UCHL1	HP:0003829	Typified by incomplete penetrance	-	OMIM:613643
7345	UCHL1	HP:0002505	Loss of ambulation	6/6	OMIM:615491
7345	UCHL1	HP:0001371	Flexion contracture	-	OMIM:615491
7345	UCHL1	HP:0001347	Hyperreflexia	6/6	OMIM:615491
7345	UCHL1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0001332	Dystonia	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615491
7345	UCHL1	HP:0001337	Tremor	HP:0040282	ORPHA:2828
7345	UCHL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620221
7345	UCHL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613643
7345	UCHL1	HP:0001310	Dysmetria	-	OMIM:615491
7345	UCHL1	HP:0007663	Reduced visual acuity	3/3	OMIM:615491
7345	UCHL1	HP:0002018	Nausea	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0002019	Constipation	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0040307	Male sexual dysfunction	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0002014	Diarrhea	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0002015	Dysphagia	9/31	OMIM:620221
7345	UCHL1	HP:0002080	Intention tremor	3/3	OMIM:615491
7345	UCHL1	HP:0002080	Intention tremor	18/31	OMIM:620221
7345	UCHL1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0002067	Bradykinesia	-	OMIM:613643
7345	UCHL1	HP:0002067	Bradykinesia	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0002066	Gait ataxia	28/31	OMIM:620221
7345	UCHL1	HP:0003394	Muscle spasm	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0002063	Rigidity	-	OMIM:613643
7345	UCHL1	HP:0002063	Rigidity	HP:0040281	ORPHA:2828
7345	UCHL1	HP:0002061	Lower limb spasticity	5/6	OMIM:615491
7345	UCHL1	HP:0002061	Lower limb spasticity	24/31	OMIM:620221
7345	UCHL1	HP:0002059	Cerebral atrophy	3/3	OMIM:615491
7345	UCHL1	HP:0003477	Peripheral axonal neuropathy	11/21	OMIM:620221
7345	UCHL1	HP:0002141	Gait imbalance	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0003487	Babinski sign	5/6	OMIM:615491
7345	UCHL1	HP:0002180	Neurodegeneration	-	OMIM:615491
7345	UCHL1	HP:0002174	Postural tremor	1/3	OMIM:615491
7345	UCHL1	HP:0002172	Postural instability	-	OMIM:613643
7345	UCHL1	HP:0002172	Postural instability	HP:0040282	ORPHA:2828
7345	UCHL1	HP:0002273	Tetraparesis	-	OMIM:615491
7345	UCHL1	HP:0003581	Adult onset	-	OMIM:620221
7345	UCHL1	HP:0100710	Impulsivity	HP:0040284	ORPHA:2828
7345	UCHL1	HP:0100785	Insomnia	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0002380	Fasciculations	2/3	OMIM:615491
7345	UCHL1	HP:0002395	Lower limb hyperreflexia	24/31	OMIM:620221
7345	UCHL1	HP:0003676	Progressive	-	OMIM:615491
7345	UCHL1	HP:0100660	Dyskinesia	HP:0040282	ORPHA:2828
7345	UCHL1	HP:0010831	Impaired proprioception	6/6	OMIM:615491
7345	UCHL1	HP:0007141	Sensorimotor neuropathy	2/3	OMIM:615491
7345	UCHL1	HP:0003621	Juvenile onset	3/3	OMIM:615491
7345	UCHL1	HP:0003621	Juvenile onset	-	OMIM:620221
7345	UCHL1	HP:0000640	Gaze-evoked nystagmus	6/6	OMIM:615491
7345	UCHL1	HP:0000651	Diplopia	HP:0040284	ORPHA:2828
7345	UCHL1	HP:0000649	Abnormality of visual evoked potentials	0/2	OMIM:615491
7345	UCHL1	HP:0000648	Optic atrophy	6/6	OMIM:615491
7345	UCHL1	HP:0000648	Optic atrophy	9/17	OMIM:620221
7345	UCHL1	HP:0034008	Opto-chiasmatic atrophy	3/3	OMIM:615491
7345	UCHL1	HP:0006938	Impaired vibration sensation at ankles	3/3	OMIM:615491
7345	UCHL1	HP:0031993	Hoffmann sign	1/6	OMIM:615491
7345	UCHL1	HP:0000768	Pectus carinatum	2/3	OMIM:615491
7345	UCHL1	HP:0000738	Hallucinations	HP:0040282	ORPHA:2828
7345	UCHL1	HP:0000739	Anxiety	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0000736	Short attention span	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0000741	Apathy	HP:0040282	ORPHA:2828
7345	UCHL1	HP:0000716	Depression	HP:0040282	ORPHA:2828
7345	UCHL1	HP:0000713	Agitation	HP:0040284	ORPHA:2828
7345	UCHL1	HP:0000727	Frontal lobe dementia	HP:0040284	ORPHA:2828
7345	UCHL1	HP:0000726	Dementia	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0011463	Childhood onset	-	OMIM:620221
7345	UCHL1	HP:0011448	Ankle clonus	-	OMIM:615491
7345	UCHL1	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0004409	Hyposmia	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0030014	Female sexual dysfunction	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0012452	Restless legs	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0001763	Pes planus	-	OMIM:615491
7345	UCHL1	HP:0001761	Pes cavus	3/3	OMIM:615491
7345	UCHL1	HP:0000529	Progressive visual loss	2/3	OMIM:615491
7345	UCHL1	HP:0000597	Ophthalmoparesis	1/3	OMIM:615491
7345	UCHL1	HP:0000572	Visual loss	6/6	OMIM:615491
7345	UCHL1	HP:0000551	Color vision defect	HP:0040283	ORPHA:2828
7345	UCHL1	HP:0000545	Myopia	-	OMIM:615491
7351	UCP2	HP:0001279	Syncope	HP:0040283	ORPHA:276556
7351	UCP2	HP:0001254	Lethargy	HP:0040283	ORPHA:276556
7351	UCP2	HP:0002591	Polyphagia	HP:0040283	ORPHA:276556
7351	UCP2	HP:0031084	Excessive insulin response to glucagon test	HP:0040281	ORPHA:276556
7351	UCP2	HP:0012051	Reactive hypoglycemia	HP:0040281	ORPHA:276556
7351	UCP2	HP:0001325	Hypoglycemic coma	HP:0040283	ORPHA:276556
7351	UCP2	HP:0031224	Diffuse pancreatic islet hyperplasia	HP:0040283	ORPHA:276556
7351	UCP2	HP:0040299	Decreased circulating free fatty acid level	HP:0040281	ORPHA:276556
7351	UCP2	HP:0002133	Status epilepticus	HP:0040283	ORPHA:276556
7351	UCP2	HP:0002173	Hypoglycemic seizures	HP:0040283	ORPHA:276556
7351	UCP2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:276556
7351	UCP2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:276556
7351	UCP2	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:276556
7351	UCP2	HP:0002329	Drowsiness	HP:0040282	ORPHA:276556
7351	UCP2	HP:0007185	Loss of consciousness	HP:0040283	ORPHA:276556
7351	UCP2	HP:0001962	Palpitations	HP:0040282	ORPHA:276556
7351	UCP2	HP:0001988	Recurrent hypoglycemia	HP:0040281	ORPHA:276556
7351	UCP2	HP:0001985	Hypoketotic hypoglycemia	HP:0040281	ORPHA:276556
7351	UCP2	HP:0000713	Agitation	HP:0040282	ORPHA:276556
7351	UCP2	HP:0012759	Neurodevelopmental abnormality	HP:0040282	ORPHA:276556
7351	UCP2	HP:0030796	Increased C-peptide level	HP:0040281	ORPHA:276556
7351	UCP2	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040281	ORPHA:276556
7351	UCP2	HP:0000980	Pallor	HP:0040282	ORPHA:276556
7351	UCP2	HP:0001520	Large for gestational age	HP:0040282	ORPHA:276556
7351	UCP2	HP:0001649	Tachycardia	HP:0040282	ORPHA:276556
7351	UCP2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:276556
7352	UCP3	HP:0010982	Polygenic inheritance	-	OMIM:601665
7352	UCP3	HP:0000007	Autosomal recessive inheritance	-	OMIM:601665
7352	UCP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:601665
7352	UCP3	HP:0031819	Increased waist to hip ratio	-	OMIM:601665
7352	UCP3	HP:0001513	Obesity	-	OMIM:601665
7352	UCP3	HP:0012340	Decreased resting energy expenditure	-	OMIM:601665
7353	UFD1	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:567
7353	UFD1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:567
7353	UFD1	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:567
7353	UFD1	HP:0002435	Meningocele	HP:0040282	ORPHA:567
7353	UFD1	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:567
7353	UFD1	HP:0002414	Spina bifida	HP:0040283	ORPHA:567
7353	UFD1	HP:0001281	Tetany	HP:0040282	ORPHA:567
7353	UFD1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:567
7353	UFD1	HP:0001250	Seizure	HP:0040283	ORPHA:567
7353	UFD1	HP:0001252	Hypotonia	HP:0040281	ORPHA:567
7353	UFD1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:567
7353	UFD1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:567
7353	UFD1	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:567
7353	UFD1	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:567
7353	UFD1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:567
7353	UFD1	HP:0001369	Arthritis	HP:0040283	ORPHA:567
7353	UFD1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:567
7353	UFD1	HP:0000047	Hypospadias	HP:0040283	ORPHA:567
7353	UFD1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:567
7353	UFD1	HP:0002691	Platybasia	HP:0040281	ORPHA:567
7353	UFD1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:567
7353	UFD1	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:567
7353	UFD1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:567
7353	UFD1	HP:0002650	Scoliosis	HP:0040282	ORPHA:567
7353	UFD1	HP:0002619	Varicose veins	HP:0040283	ORPHA:567
7353	UFD1	HP:0001300	Parkinsonism	HP:0040283	ORPHA:567
7353	UFD1	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:567
7353	UFD1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:567
7353	UFD1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:567
7353	UFD1	HP:0000175	Cleft palate	HP:0040281	ORPHA:567
7353	UFD1	HP:0000113	Polycystic kidney dysplasia	HP:0040283	ORPHA:567
7353	UFD1	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:567
7353	UFD1	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:567
7353	UFD1	HP:0002023	Anal atresia	HP:0040283	ORPHA:567
7353	UFD1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:567
7353	UFD1	HP:0002019	Constipation	HP:0040282	ORPHA:567
7353	UFD1	HP:0003326	Myalgia	HP:0040282	ORPHA:567
7353	UFD1	HP:0002099	Asthma	HP:0040283	ORPHA:567
7353	UFD1	HP:0002139	Arrhinencephaly	HP:0040283	ORPHA:567
7353	UFD1	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:567
7353	UFD1	HP:0011840	Abnormality of T cell physiology	HP:0040282	ORPHA:567
7353	UFD1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:567
7353	UFD1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:567
7353	UFD1	HP:0100765	Abnormality of the tonsils	HP:0040282	ORPHA:567
7353	UFD1	HP:0100735	Hypertensive crisis	HP:0040283	ORPHA:567
7353	UFD1	HP:0100750	Atelectasis	HP:0040283	ORPHA:567
7353	UFD1	HP:0100753	Schizophrenia	HP:0040283	ORPHA:567
7353	UFD1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:567
7353	UFD1	HP:0001051	Seborrheic dermatitis	HP:0040282	ORPHA:567
7353	UFD1	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:567
7353	UFD1	HP:0002381	Aphasia	HP:0040281	ORPHA:567
7353	UFD1	HP:0001061	Acne	HP:0040282	ORPHA:567
7353	UFD1	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:567
7353	UFD1	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:567
7353	UFD1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:567
7353	UFD1	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:567
7353	UFD1	HP:0000600	Abnormality of the pharynx	HP:0040281	ORPHA:567
7353	UFD1	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:567
7353	UFD1	HP:0011324	Multiple suture craniosynostosis	HP:0040283	ORPHA:567
7353	UFD1	HP:0000670	Carious teeth	HP:0040282	ORPHA:567
7353	UFD1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:567
7353	UFD1	HP:0004322	Short stature	HP:0040282	ORPHA:567
7353	UFD1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:567
7353	UFD1	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:567
7353	UFD1	HP:0000765	Abnormal thorax morphology	HP:0040283	ORPHA:567
7353	UFD1	HP:0000739	Anxiety	HP:0040282	ORPHA:567
7353	UFD1	HP:0000716	Depression	HP:0040283	ORPHA:567
7353	UFD1	HP:0000717	Autism	HP:0040283	ORPHA:567
7353	UFD1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:567
7353	UFD1	HP:0011496	Corneal neovascularization	HP:0040282	ORPHA:567
7353	UFD1	HP:0000778	Hypoplasia of the thymus	HP:0040281	ORPHA:567
7353	UFD1	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:567
7353	UFD1	HP:0000836	Hyperthyroidism	HP:0040283	ORPHA:567
7353	UFD1	HP:0000829	Hypoparathyroidism	HP:0040282	ORPHA:567
7353	UFD1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:567
7353	UFD1	HP:0011662	Tricuspid atresia	HP:0040283	ORPHA:567
7353	UFD1	HP:0000979	Purpura	HP:0040283	ORPHA:567
7353	UFD1	HP:0000286	Epicanthus	HP:0040281	ORPHA:567
7353	UFD1	HP:0000262	Turricephaly	HP:0040283	ORPHA:567
7353	UFD1	HP:0000276	Long face	HP:0040282	ORPHA:567
7353	UFD1	HP:0000272	Malar flattening	HP:0040282	ORPHA:567
7353	UFD1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:567
7353	UFD1	HP:0000252	Microcephaly	HP:0040283	ORPHA:567
7353	UFD1	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:567
7353	UFD1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:567
7353	UFD1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:567
7353	UFD1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:567
7353	UFD1	HP:0001513	Obesity	HP:0040283	ORPHA:567
7353	UFD1	HP:0006510	Chronic pulmonary obstruction	HP:0040283	ORPHA:567
7353	UFD1	HP:0000385	Small earlobe	HP:0040282	ORPHA:567
7353	UFD1	HP:0000396	Overfolded helix	HP:0040282	ORPHA:567
7353	UFD1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:567
7353	UFD1	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:567
7353	UFD1	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:567
7353	UFD1	HP:0002901	Hypocalcemia	HP:0040282	ORPHA:567
7353	UFD1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:567
7353	UFD1	HP:0000369	Low-set ears	HP:0040281	ORPHA:567
7353	UFD1	HP:0000343	Long philtrum	HP:0040282	ORPHA:567
7353	UFD1	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:567
7353	UFD1	HP:0000347	Micrognathia	HP:0040283	ORPHA:567
7353	UFD1	HP:0012303	Abnormal aortic arch morphology	HP:0040281	ORPHA:567
7353	UFD1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:567
7353	UFD1	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:567
7353	UFD1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:567
7353	UFD1	HP:0001660	Truncus arteriosus	HP:0040281	ORPHA:567
7353	UFD1	HP:0000322	Short philtrum	HP:0040283	ORPHA:567
7353	UFD1	HP:0002960	Autoimmunity	HP:0040283	ORPHA:567
7353	UFD1	HP:0001629	Ventricular septal defect	HP:0040281	ORPHA:567
7353	UFD1	HP:0001641	Abnormal pulmonary valve morphology	HP:0040281	ORPHA:567
7353	UFD1	HP:0001636	Tetralogy of Fallot	HP:0040281	ORPHA:567
7353	UFD1	HP:0001631	Atrial septal defect	HP:0040281	ORPHA:567
7353	UFD1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:567
7353	UFD1	HP:0000486	Strabismus	HP:0040283	ORPHA:567
7353	UFD1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:567
7353	UFD1	HP:0000492	Abnormal eyelid morphology	HP:0040282	ORPHA:567
7353	UFD1	HP:0000470	Short neck	HP:0040282	ORPHA:567
7353	UFD1	HP:0000453	Choanal atresia	HP:0040283	ORPHA:567
7353	UFD1	HP:0000414	Bulbous nose	HP:0040281	ORPHA:567
7353	UFD1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:567
7353	UFD1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:567
7353	UFD1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:567
7353	UFD1	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:567
7353	UFD1	HP:0000518	Cataract	HP:0040283	ORPHA:567
7353	UFD1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:567
7353	UFD1	HP:0000506	Telecanthus	HP:0040281	ORPHA:567
7353	UFD1	HP:0000508	Ptosis	HP:0040282	ORPHA:567
7353	UFD1	HP:0000501	Glaucoma	HP:0040283	ORPHA:567
7353	UFD1	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:567
7353	UFD1	HP:0000568	Microphthalmia	HP:0040283	ORPHA:567
7353	UFD1	HP:0001872	Abnormality of thrombocytes	HP:0040283	ORPHA:567
7353	UFD1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:567
7355	SLC35A2	HP:0001155	Abnormality of the hand	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0002421	Poor head control	2/3	OMIM:300896
7355	SLC35A2	HP:0002418	Abnormal midbrain morphology	HP:0040284	ORPHA:356961
7355	SLC35A2	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0001285	Spastic tetraparesis	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0001250	Seizure	6/7	OMIM:300896
7355	SLC35A2	HP:0001250	Seizure	HP:0040281	ORPHA:356961
7355	SLC35A2	HP:0001252	Hypotonia	5/8	OMIM:300896
7355	SLC35A2	HP:0001249	Intellectual disability	3/4	OMIM:300896
7355	SLC35A2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:356961
7355	SLC35A2	HP:0001263	Global developmental delay	6/7	OMIM:300896
7355	SLC35A2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:356961
7355	SLC35A2	HP:0008695	Transient nephrotic syndrome	HP:0040284	ORPHA:356961
7355	SLC35A2	HP:0007366	Atrophy/Degeneration affecting the brainstem	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0002540	Inability to walk	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0002539	Cortical dysplasia	HP:0040284	ORPHA:356961
7355	SLC35A2	HP:0002521	Hypsarrhythmia	HP:0040281	ORPHA:356961
7355	SLC35A2	HP:0002521	Hypsarrhythmia	4/6	OMIM:300896
7355	SLC35A2	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0000074	Ureteropelvic junction obstruction	1/3	OMIM:300896
7355	SLC35A2	HP:0001382	Joint hypermobility	HP:0040284	ORPHA:356961
7355	SLC35A2	HP:0002686	Pregnancy history	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0001344	Absent speech	3/3	OMIM:300896
7355	SLC35A2	HP:0002673	Coxa valga	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0001305	Dandy-Walker malformation	HP:0040284	ORPHA:356961
7355	SLC35A2	HP:0002650	Scoliosis	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0001321	Cerebellar hypoplasia	1/3	OMIM:300896
7355	SLC35A2	HP:0025484	Increased circulating thyroglobulin concentration	HP:0040284	ORPHA:356961
7355	SLC35A2	HP:0000194	Open mouth	3/3	OMIM:300896
7355	SLC35A2	HP:0008947	Floppy infant	HP:0040281	ORPHA:356961
7355	SLC35A2	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0006297	Enamel hypoplasia	1/3	OMIM:300896
7355	SLC35A2	HP:0001423	X-linked dominant inheritance	-	OMIM:300896
7355	SLC35A2	HP:0001442	Typified by somatic mosaicism	-	OMIM:300896
7355	SLC35A2	HP:0002719	Recurrent infections	-	OMIM:300896
7355	SLC35A2	HP:0002715	Abnormality of the immune system	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0002020	Gastroesophageal reflux	HP:0040284	ORPHA:356961
7355	SLC35A2	HP:0002020	Gastroesophageal reflux	HP:0040283	OMIM:300896
7355	SLC35A2	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0002079	Hypoplasia of the corpus callosum	1/3	OMIM:300896
7355	SLC35A2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0002059	Cerebral atrophy	1/3	OMIM:300896
7355	SLC35A2	HP:0040288	Nasogastric tube feeding	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0002188	Delayed CNS myelination	1/4	OMIM:300896
7355	SLC35A2	HP:0100490	Camptodactyly of finger	HP:0040284	ORPHA:356961
7355	SLC35A2	HP:0002263	Exaggerated cupid's bow	2/3	OMIM:300896
7355	SLC35A2	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0200134	Epileptic encephalopathy	3/3	OMIM:300896
7355	SLC35A2	HP:0002280	Enlarged cisterna magna	1/4	OMIM:300896
7355	SLC35A2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0001010	Hypopigmentation of the skin	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0200012	Short corpus callosum	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0025053	Elevated brain N-acetyl aspartate level by MRS	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0003623	Neonatal onset	3/3	OMIM:300896
7355	SLC35A2	HP:0000639	Nystagmus	-	OMIM:300896
7355	SLC35A2	HP:0011314	Abnormal long bone morphology	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0004322	Short stature	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0006956	Lateral ventricle dilatation	HP:0040284	ORPHA:356961
7355	SLC35A2	HP:0006956	Lateral ventricle dilatation	1/4	OMIM:300896
7355	SLC35A2	HP:0031931	Ocular flutter	-	OMIM:300896
7355	SLC35A2	HP:0000707	Abnormality of the nervous system	HP:0040281	ORPHA:356961
7355	SLC35A2	HP:0012762	Cerebral white matter atrophy	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0003121	Limb joint contracture	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0005736	Short tibia	HP:0040284	ORPHA:356961
7355	SLC35A2	HP:0000924	Abnormality of the skeletal system	HP:0040281	ORPHA:356961
7355	SLC35A2	HP:0003186	Inverted nipples	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0003160	Abnormal isoelectric focusing of serum transferrin	4/7	OMIM:300896
7355	SLC35A2	HP:0012803	Anisometropia	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0000826	Precocious puberty	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0000822	Hypertension	1/3	OMIM:300896
7355	SLC35A2	HP:0045060	Aplasia/hypoplasia involving bones of the extremities	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0003265	Neonatal hyperbilirubinemia	3/4	OMIM:300896
7355	SLC35A2	HP:0000951	Abnormality of the skin	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0000938	Osteopenia	HP:0040284	ORPHA:356961
7355	SLC35A2	HP:0007704	Paroxysmal involuntary eye movements	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0000286	Epicanthus	2/3	OMIM:300896
7355	SLC35A2	HP:0000280	Coarse facial features	3/3	OMIM:300896
7355	SLC35A2	HP:0000293	Full cheeks	1/3	OMIM:300896
7355	SLC35A2	HP:0000252	Microcephaly	2/3	OMIM:300896
7355	SLC35A2	HP:0000252	Microcephaly	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0001586	Vesicovaginal fistula	1/3	OMIM:300896
7355	SLC35A2	HP:0012210	Abnormal renal morphology	HP:0040284	ORPHA:356961
7355	SLC35A2	HP:0000218	High palate	1/3	OMIM:300896
7355	SLC35A2	HP:0025517	Hypoplastic hippocampus	HP:0040284	ORPHA:356961
7355	SLC35A2	HP:0001562	Oligohydramnios	1/4	OMIM:300896
7355	SLC35A2	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0030043	Hip subluxation	HP:0040284	ORPHA:356961
7355	SLC35A2	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0001511	Intrauterine growth retardation	1/3	OMIM:300896
7355	SLC35A2	HP:0011097	Epileptic spasm	3/3	OMIM:300896
7355	SLC35A2	HP:0011090	Fused teeth	1/3	OMIM:300896
7355	SLC35A2	HP:0012363	Decreased sialylation of O-linked protein glycosylation	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	HP:0040284	ORPHA:356961
7355	SLC35A2	HP:0012345	Abnormal glycosylation	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0012348	Decreased galactosylation of N-linked protein glycosylation	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0000322	Short philtrum	2/3	OMIM:300896
7355	SLC35A2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0001636	Tetralogy of Fallot	HP:0040284	ORPHA:356961
7355	SLC35A2	HP:0001631	Atrial septal defect	1/3	OMIM:300896
7355	SLC35A2	HP:0000303	Mandibular prognathia	3/3	OMIM:300896
7355	SLC35A2	HP:0011185	EEG with focal epileptiform discharges	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0000486	Strabismus	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0012469	Infantile spasms	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0012471	Thick vermilion border	-	OMIM:300896
7355	SLC35A2	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0012448	Delayed myelination	HP:0040282	ORPHA:356961
7355	SLC35A2	HP:0000474	Thickened nuchal skin fold	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0000431	Wide nasal bridge	3/3	OMIM:300896
7355	SLC35A2	HP:0000510	Rod-cone dystrophy	-	OMIM:300896
7355	SLC35A2	HP:0001840	Metatarsus adductus	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0000577	Exotropia	HP:0040283	ORPHA:356961
7355	SLC35A2	HP:0000574	Thick eyebrow	3/3	OMIM:300896
7358	UGDH	HP:0010851	EEG with burst suppression	-	OMIM:618792
7358	UGDH	HP:0001290	Generalized hypotonia	7/30	OMIM:618792
7358	UGDH	HP:0001284	Areflexia	2/30	OMIM:618792
7358	UGDH	HP:0001250	Seizure	30/30	OMIM:618792
7358	UGDH	HP:0001257	Spasticity	13/30	OMIM:618792
7358	UGDH	HP:0002521	Hypsarrhythmia	-	OMIM:618792
7358	UGDH	HP:0025336	Delayed ability to sit	28/30	OMIM:618792
7358	UGDH	HP:0001347	Hyperreflexia	9/30	OMIM:618792
7358	UGDH	HP:0001357	Plagiocephaly	1/30	OMIM:618792
7358	UGDH	HP:0001332	Dystonia	5/30	OMIM:618792
7358	UGDH	HP:0000007	Autosomal recessive inheritance	-	OMIM:618792
7358	UGDH	HP:0000179	Thick lower lip vermilion	4/30	OMIM:618792
7358	UGDH	HP:0008936	Axial hypotonia	35/60	OMIM:618792
7358	UGDH	HP:0002072	Chorea	-	OMIM:618792
7358	UGDH	HP:0003487	Babinski sign	2/30	OMIM:618792
7358	UGDH	HP:0002119	Ventriculomegaly	-	OMIM:618792
7358	UGDH	HP:0002188	Delayed CNS myelination	-	OMIM:618792
7358	UGDH	HP:0002179	Opisthotonus	2/30	OMIM:618792
7358	UGDH	HP:0009748	Large earlobe	1/30	OMIM:618792
7358	UGDH	HP:0200134	Epileptic encephalopathy	27/30	OMIM:618792
7358	UGDH	HP:0011344	Severe global developmental delay	-	OMIM:618792
7358	UGDH	HP:0000664	Synophrys	2/30	OMIM:618792
7358	UGDH	HP:0012745	Short palpebral fissure	3/30	OMIM:618792
7358	UGDH	HP:0011471	Gastrostomy tube feeding in infancy	12/30	OMIM:618792
7358	UGDH	HP:0000286	Epicanthus	3/30	OMIM:618792
7358	UGDH	HP:0000252	Microcephaly	3/30	OMIM:618792
7358	UGDH	HP:0011097	Epileptic spasm	16/30	OMIM:618792
7358	UGDH	HP:0000319	Smooth philtrum	7/30	OMIM:618792
7358	UGDH	HP:0000307	Pointed chin	2/30	OMIM:618792
7358	UGDH	HP:0000490	Deeply set eye	1/30	OMIM:618792
7358	UGDH	HP:0000508	Ptosis	-	OMIM:618792
7358	UGDH	HP:0000581	Blepharophimosis	-	OMIM:618792
7360	UGP2	HP:0009890	High anterior hairline	5/14	OMIM:618744
7360	UGP2	HP:0001250	Seizure	18/18	OMIM:618744
7360	UGP2	HP:0001257	Spasticity	7/18	OMIM:618744
7360	UGP2	HP:0002553	Highly arched eyebrow	4/14	OMIM:618744
7360	UGP2	HP:0001347	Hyperreflexia	11/17	OMIM:618744
7360	UGP2	HP:0008872	Feeding difficulties in infancy	15/17	OMIM:618744
7360	UGP2	HP:0001344	Absent speech	18/18	OMIM:618744
7360	UGP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618744
7360	UGP2	HP:0008936	Axial hypotonia	17/17	OMIM:618744
7360	UGP2	HP:0002033	Poor suck	-	OMIM:618744
7360	UGP2	HP:0002007	Frontal bossing	1/14	OMIM:618744
7360	UGP2	HP:0002079	Hypoplasia of the corpus callosum	5/14	OMIM:618744
7360	UGP2	HP:0002120	Cerebral cortical atrophy	9/13	OMIM:618744
7360	UGP2	HP:0002187	Intellectual disability, profound	-	OMIM:618744
7360	UGP2	HP:0002273	Tetraparesis	4/17	OMIM:618744
7360	UGP2	HP:0002205	Recurrent respiratory infections	3/14	OMIM:618744
7360	UGP2	HP:0002376	Developmental regression	3/17	OMIM:618744
7360	UGP2	HP:0000639	Nystagmus	3/17	OMIM:618744
7360	UGP2	HP:0011344	Severe global developmental delay	18/18	OMIM:618744
7360	UGP2	HP:0000664	Synophrys	1/15	OMIM:618744
7360	UGP2	HP:0000817	Reduced eye contact	16/17	OMIM:618744
7360	UGP2	HP:0000286	Epicanthus	1/15	OMIM:618744
7360	UGP2	HP:0007750	Hypoplasia of the fovea	2/18	OMIM:618744
7360	UGP2	HP:0000252	Microcephaly	12/18	OMIM:618744
7360	UGP2	HP:0002857	Genu valgum	4/12	OMIM:618744
7360	UGP2	HP:0000369	Low-set ears	4/13	OMIM:618744
7360	UGP2	HP:0000341	Narrow forehead	3/13	OMIM:618744
7360	UGP2	HP:0000340	Sloping forehead	2/13	OMIM:618744
7360	UGP2	HP:0000343	Long philtrum	1/15	OMIM:618744
7360	UGP2	HP:0032988	Persistent head lag	18/18	OMIM:618744
7360	UGP2	HP:0005280	Depressed nasal bridge	6/16	OMIM:618744
7360	UGP2	HP:0012450	Chronic constipation	7/17	OMIM:618744
7369	UMOD	HP:0003774	Stage 5 chronic kidney disease	91/182	OMIM:162000
7369	UMOD	HP:0000089	Renal hypoplasia	17/33	OMIM:162000
7369	UMOD	HP:0000083	Renal insufficiency	12/12	OMIM:162000
7369	UMOD	HP:0000096	Glomerular sclerosis	10/15	OMIM:162000
7369	UMOD	HP:0000093	Proteinuria	33/57	OMIM:162000
7369	UMOD	HP:0000092	Renal tubular atrophy	24/24	OMIM:162000
7369	UMOD	HP:0000076	Vesicoureteral reflux	0/6	OMIM:162000
7369	UMOD	HP:0000006	Autosomal dominant inheritance	-	OMIM:162000
7369	UMOD	HP:0000123	Nephritis	-	OMIM:162000
7369	UMOD	HP:0000107	Renal cyst	25/65	OMIM:162000
7369	UMOD	HP:0000108	Renal corticomedullary cysts	2/3	OMIM:162000
7369	UMOD	HP:0000103	Polyuria	2/4	OMIM:162000
7369	UMOD	HP:0002149	Hyperuricemia	100/130	OMIM:162000
7369	UMOD	HP:0011935	Decreased urinary urate	2/2	OMIM:162000
7369	UMOD	HP:0004719	Hyperechogenic kidneys	4/23	OMIM:162000
7369	UMOD	HP:0004722	Thickened glomerular basement membrane	7/9	OMIM:162000
7369	UMOD	HP:0003596	Middle age onset	30/66	OMIM:162000
7369	UMOD	HP:0003584	Late onset	2/19	OMIM:162000
7369	UMOD	HP:0003676	Progressive	-	OMIM:162000
7369	UMOD	HP:0003621	Juvenile onset	20/33	OMIM:162000
7369	UMOD	HP:0005565	Reduced renal corticomedullary differentiation	2/12	OMIM:162000
7369	UMOD	HP:0001970	Tubulointerstitial nephritis	1/1	OMIM:162000
7369	UMOD	HP:0012624	Stage 2 chronic kidney disease	6/6	OMIM:162000
7369	UMOD	HP:0012625	Stage 3 chronic kidney disease	12/12	OMIM:162000
7369	UMOD	HP:0012626	Stage 4 chronic kidney disease	8/8	OMIM:162000
7369	UMOD	HP:0012622	Chronic kidney disease	33/33	OMIM:162000
7369	UMOD	HP:0012623	Stage 1 chronic kidney disease	23/29	OMIM:162000
7369	UMOD	HP:0001942	Metabolic acidosis	1/1	OMIM:162000
7369	UMOD	HP:0001997	Gout	36/85	OMIM:162000
7369	UMOD	HP:0011463	Childhood onset	5/15	OMIM:162000
7369	UMOD	HP:0011462	Young adult onset	50/89	OMIM:162000
7369	UMOD	HP:0000794	IgA deposition in the glomerulus	0/1	OMIM:162000
7369	UMOD	HP:0000790	Hematuria	5/32	OMIM:162000
7369	UMOD	HP:0003158	Hyposthenuria	3/8	OMIM:162000
7369	UMOD	HP:0003165	Elevated circulating parathyroid hormone level	2/2	OMIM:162000
7369	UMOD	HP:0003138	Increased blood urea nitrogen	6/6	OMIM:162000
7369	UMOD	HP:0000822	Hypertension	42/72	OMIM:162000
7369	UMOD	HP:0003259	Elevated circulating creatinine concentration	50/57	OMIM:162000
7369	UMOD	HP:0012213	Decreased glomerular filtration rate	28/32	OMIM:162000
7369	UMOD	HP:0032948	Renal interstitial fibrosis	21/24	OMIM:162000
7372	UMPS	HP:0032231	Hypochromia	-	OMIM:258900
7372	UMPS	HP:0001263	Global developmental delay	HP:0040281	ORPHA:30
7372	UMPS	HP:0001263	Global developmental delay	HP:0040283	OMIM:258900
7372	UMPS	HP:0000069	Abnormality of the ureter	HP:0040282	ORPHA:30
7372	UMPS	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:30
7372	UMPS	HP:0000007	Autosomal recessive inheritance	-	OMIM:258900
7372	UMPS	HP:0003355	Aminoaciduria	HP:0040281	ORPHA:30
7372	UMPS	HP:0003339	Pyrimidine-responsive megaloblastic anemia	-	OMIM:258900
7372	UMPS	HP:0011840	Abnormality of T cell physiology	HP:0040282	ORPHA:30
7372	UMPS	HP:0011840	Abnormality of T cell physiology	HP:0040283	OMIM:258900
7372	UMPS	HP:0003526	Orotic acid crystalluria	-	OMIM:258900
7372	UMPS	HP:0003526	Orotic acid crystalluria	HP:0040281	ORPHA:30
7372	UMPS	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:30
7372	UMPS	HP:0004826	Folate-unresponsive megaloblastic anemia	-	OMIM:258900
7372	UMPS	HP:0008388	Abnormal toenail morphology	HP:0040282	ORPHA:30
7372	UMPS	HP:0001903	Anemia	HP:0040281	ORPHA:30
7372	UMPS	HP:0000790	Hematuria	-	OMIM:258900
7372	UMPS	HP:0004447	Poikilocytosis	-	OMIM:258900
7372	UMPS	HP:0003218	Oroticaciduria	HP:0040281	ORPHA:30
7372	UMPS	HP:0003218	Oroticaciduria	-	OMIM:258900
7372	UMPS	HP:0003267	Reduced orotidine 5-prime phosphate decarboxylase level	-	OMIM:258900
7372	UMPS	HP:0001508	Failure to thrive	HP:0040283	OMIM:258900
7372	UMPS	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:30
7372	UMPS	HP:0000316	Hypertelorism	HP:0040282	ORPHA:30
7372	UMPS	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:30
7372	UMPS	HP:0001629	Ventricular septal defect	HP:0040283	OMIM:258900
7372	UMPS	HP:0001631	Atrial septal defect	HP:0040283	OMIM:258900
7372	UMPS	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:30
7372	UMPS	HP:0001744	Splenomegaly	HP:0040282	ORPHA:30
7372	UMPS	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:30
7372	UMPS	HP:0011273	Anisocytosis	-	OMIM:258900
7373	COL14A1	HP:0025114	Hypergranulosis	HP:0040282	ORPHA:79501
7373	COL14A1	HP:0002671	Basal cell carcinoma	HP:0040284	ORPHA:79501
7373	COL14A1	HP:0012189	Hodgkin lymphoma	HP:0040284	ORPHA:79501
7373	COL14A1	HP:0012125	Prostate cancer	HP:0040284	ORPHA:79501
7373	COL14A1	HP:0012126	Stomach cancer	HP:0040284	ORPHA:79501
7373	COL14A1	HP:0100526	Neoplasm of the lung	HP:0040284	ORPHA:79501
7373	COL14A1	HP:0040274	Adenocarcinoma of the small intestine	HP:0040284	ORPHA:79501
7373	COL14A1	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:79501
7373	COL14A1	HP:0008404	Nail dystrophy	HP:0040284	ORPHA:79501
7373	COL14A1	HP:0100751	Esophageal neoplasm	HP:0040283	ORPHA:79501
7373	COL14A1	HP:0010622	Neoplasm of the skeletal system	HP:0040284	ORPHA:79501
7373	COL14A1	HP:0025092	Epidermal acanthosis	HP:0040282	ORPHA:79501
7373	COL14A1	HP:0005584	Renal cell carcinoma	HP:0040284	ORPHA:79501
7373	COL14A1	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:79501
7373	COL14A1	HP:0030692	Brain neoplasm	HP:0040284	ORPHA:79501
7373	COL14A1	HP:0045059	Hyperkeratotic papule	HP:0040281	ORPHA:79501
7373	COL14A1	HP:0000972	Palmoplantar hyperkeratosis	HP:0040281	ORPHA:79501
7373	COL14A1	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:79501
7373	COL14A1	HP:0040162	Orthokeratosis	HP:0040282	ORPHA:79501
7373	COL14A1	HP:0002861	Melanoma	HP:0040283	ORPHA:79501
7373	COL14A1	HP:0002860	Squamous cell carcinoma	HP:0040284	ORPHA:79501
7373	COL14A1	HP:0011124	Abnormal epidermal morphology	HP:0040281	ORPHA:79501
7373	COL14A1	HP:0006725	Pancreatic adenocarcinoma	HP:0040284	ORPHA:79501
7373	COL14A1	HP:0012500	Verrucous papule	HP:0040283	ORPHA:79501
7373	COL14A1	HP:0012531	Pain	HP:0040283	ORPHA:79501
7374	UNG	HP:0000031	Epididymitis	1/3	OMIM:608106
7374	UNG	HP:0000007	Autosomal recessive inheritance	-	OMIM:608106
7374	UNG	HP:0002718	Recurrent bacterial infections	3/3	OMIM:608106
7374	UNG	HP:0002716	Lymphadenopathy	3/3	OMIM:608106
7374	UNG	HP:0002720	Decreased circulating IgA concentration	3/3	OMIM:608106
7374	UNG	HP:0002721	Immunodeficiency	-	OMIM:608106
7374	UNG	HP:0003496	Increased circulating IgM level	3/3	OMIM:608106
7374	UNG	HP:0200117	Recurrent upper and lower respiratory tract infections	1/3	OMIM:608106
7374	UNG	HP:0004315	Decreased circulating IgG concentration	3/3	OMIM:608106
7374	UNG	HP:0011463	Childhood onset	2/2	OMIM:608106
7374	UNG	HP:0002959	Impaired Ig class switch recombination	3/3	OMIM:608106
7381	UQCRB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615158
7381	UQCRB	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:615158
7381	UQCRB	HP:0011924	Decreased activity of mitochondrial complex III	1/1	OMIM:615158
7381	UQCRB	HP:0003593	Infantile onset	1/1	OMIM:615158
7381	UQCRB	HP:0002240	Hepatomegaly	1/1	OMIM:615158
7381	UQCRB	HP:0020078	Alaninuria	1/1	OMIM:615158
7381	UQCRB	HP:0001943	Hypoglycemia	1/1	OMIM:615158
7381	UQCRB	HP:0001942	Metabolic acidosis	1/1	OMIM:615158
7381	UQCRB	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:615158
7381	UQCRB	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:615158
7381	UQCRB	HP:0012759	Neurodevelopmental abnormality	0/1	OMIM:615158
7384	UQCRC1	HP:0001271	Polyneuropathy	4/5	OMIM:619279
7384	UQCRC1	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	8/8	OMIM:619279
7384	UQCRC1	HP:0002506	Diffuse cerebral atrophy	3/5	OMIM:619279
7384	UQCRC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619279
7384	UQCRC1	HP:0002067	Bradykinesia	8/8	OMIM:619279
7384	UQCRC1	HP:0002063	Rigidity	8/8	OMIM:619279
7384	UQCRC1	HP:0003431	Decreased motor nerve conduction velocity	4/5	OMIM:619279
7384	UQCRC1	HP:0003596	Middle age onset	4/8	OMIM:619279
7384	UQCRC1	HP:0003584	Late onset	4/8	OMIM:619279
7384	UQCRC1	HP:0033383	Decreased compound muscle action potential amplitude	5/5	OMIM:619279
7384	UQCRC1	HP:0007078	Decreased amplitude of sensory action potentials	5/5	OMIM:619279
7384	UQCRC1	HP:0002322	Resting tremor	6/8	OMIM:619279
7384	UQCRC1	HP:0000739	Anxiety	5/5	OMIM:619279
7384	UQCRC1	HP:0000716	Depression	2/5	OMIM:619279
7385	UQCRC2	HP:0033504	Elevated circulating fumarate concentration	1/3	OMIM:615160
7385	UQCRC2	HP:0001263	Global developmental delay	2/3	OMIM:615160
7385	UQCRC2	HP:0002572	Episodic vomiting	1/3	OMIM:615160
7385	UQCRC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615160
7385	UQCRC2	HP:0001410	Decreased liver function	-	OMIM:615160
7385	UQCRC2	HP:0003348	Hyperalaninemia	2/3	OMIM:615160
7385	UQCRC2	HP:0002033	Poor suck	1/3	OMIM:615160
7385	UQCRC2	HP:0033177	Elevated circulating suberic acid concentration	1/3	OMIM:615160
7385	UQCRC2	HP:0002151	Increased circulating lactate concentration	3/3	OMIM:615160
7385	UQCRC2	HP:0003542	Increased circulating pyruvate concentration	3/3	OMIM:615160
7385	UQCRC2	HP:0033325	Elevated circulating sebacic acid concentration	1/3	OMIM:615160
7385	UQCRC2	HP:0001943	Hypoglycemia	3/3	OMIM:615160
7385	UQCRC2	HP:0001942	Metabolic acidosis	3/3	OMIM:615160
7385	UQCRC2	HP:0001987	Hyperammonemia	3/3	OMIM:615160
7385	UQCRC2	HP:0000252	Microcephaly	1/3	OMIM:615160
7385	UQCRC2	HP:0002876	Episodic tachypnea	2/3	OMIM:615160
7385	UQCRC2	HP:0001518	Small for gestational age	1/3	OMIM:615160
7385	UQCRC2	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:615160
7385	UQCRC2	HP:0001631	Atrial septal defect	1/3	OMIM:615160
7386	UQCRFS1	HP:0001270	Motor delay	1/1	OMIM:618775
7386	UQCRFS1	HP:0001252	Hypotonia	2/2	OMIM:618775
7386	UQCRFS1	HP:0007418	Alopecia totalis	2/2	OMIM:618775
7386	UQCRFS1	HP:0008872	Feeding difficulties in infancy	2/2	OMIM:618775
7386	UQCRFS1	HP:0001324	Muscle weakness	2/2	OMIM:618775
7386	UQCRFS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618775
7386	UQCRFS1	HP:0002045	Hypothermia	1/1	OMIM:618775
7386	UQCRFS1	HP:0011726	Persistent fetal circulation	1/2	OMIM:618775
7386	UQCRFS1	HP:0004897	Stress/infection-induced lactic acidosis	2/2	OMIM:618775
7386	UQCRFS1	HP:0001085	Papilledema	1/1	OMIM:618775
7386	UQCRFS1	HP:0001081	Cholelithiasis	1/1	OMIM:618775
7386	UQCRFS1	HP:0001928	Abnormality of coagulation	1/1	OMIM:618775
7386	UQCRFS1	HP:0003128	Lactic acidosis	2/2	OMIM:618775
7386	UQCRFS1	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:618775
7386	UQCRFS1	HP:0002883	Hyperventilation	1/2	OMIM:618775
7386	UQCRFS1	HP:0001518	Small for gestational age	1/2	OMIM:618775
7386	UQCRFS1	HP:0001511	Intrauterine growth retardation	1/2	OMIM:618775
7386	UQCRFS1	HP:0001698	Pericardial effusion	1/1	OMIM:618775
7386	UQCRFS1	HP:0001662	Bradycardia	2/2	OMIM:618775
7386	UQCRFS1	HP:0001629	Ventricular septal defect	1/2	OMIM:618775
7386	UQCRFS1	HP:0001639	Hypertrophic cardiomyopathy	2/2	OMIM:618775
7386	UQCRFS1	HP:0005301	Persistent left superior vena cava	1/2	OMIM:618775
7386	UQCRFS1	HP:0001895	Normochromic anemia	1/1	OMIM:618775
7386	UQCRFS1	HP:0001873	Thrombocytopenia	2/2	OMIM:618775
7388	UQCRH	HP:0008551	Microtia	1/2	OMIM:620137
7388	UQCRH	HP:0001289	Confusion	2/2	OMIM:620137
7388	UQCRH	HP:0000007	Autosomal recessive inheritance	-	OMIM:620137
7388	UQCRH	HP:0002788	Recurrent upper respiratory tract infections	1/2	OMIM:620137
7388	UQCRH	HP:0002027	Abdominal pain	1/2	OMIM:620137
7388	UQCRH	HP:0002014	Diarrhea	1/2	OMIM:620137
7388	UQCRH	HP:0002013	Vomiting	2/2	OMIM:620137
7388	UQCRH	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:620137
7388	UQCRH	HP:0011924	Decreased activity of mitochondrial complex III	2/2	OMIM:620137
7388	UQCRH	HP:0001943	Hypoglycemia	2/2	OMIM:620137
7388	UQCRH	HP:0001945	Fever	1/2	OMIM:620137
7388	UQCRH	HP:0001942	Metabolic acidosis	2/2	OMIM:620137
7388	UQCRH	HP:0001987	Hyperammonemia	2/2	OMIM:620137
7388	UQCRH	HP:0011463	Childhood onset	2/2	OMIM:620137
7388	UQCRH	HP:0001733	Pancreatitis	1/2	OMIM:620137
7389	UROD	HP:0001394	Cirrhosis	-	OMIM:176100
7389	UROD	HP:0007537	Severe photosensitivity	HP:0040281	ORPHA:95159
7389	UROD	HP:0000007	Autosomal recessive inheritance	-	OMIM:176100
7389	UROD	HP:0000006	Autosomal dominant inheritance	-	OMIM:176100
7389	UROD	HP:0012132	Erythroid hyperplasia	HP:0040283	ORPHA:95159
7389	UROD	HP:0002797	Osteolysis	HP:0040284	ORPHA:95159
7389	UROD	HP:0500046	Seborrhoeic blepharitis	HP:0040284	ORPHA:95159
7389	UROD	HP:0001402	Hepatocellular carcinoma	-	OMIM:176100
7389	UROD	HP:0040318	Red urine	HP:0040282	ORPHA:95159
7389	UROD	HP:0040322	Purple urine	HP:0040282	ORPHA:95159
7389	UROD	HP:0040320	Red-brown urine	HP:0040282	ORPHA:95159
7389	UROD	HP:0100532	Scleritis	HP:0040284	ORPHA:95159
7389	UROD	HP:0010473	Porphyrinuria	1/1	OMIM:176100
7389	UROD	HP:0010472	Abnormal circulating porphyrin concentration	HP:0040282	ORPHA:95159
7389	UROD	HP:0003401	Paresthesia	HP:0040284	ORPHA:95159
7389	UROD	HP:0002219	Facial hypertrichosis	-	OMIM:176100
7389	UROD	HP:0002219	Facial hypertrichosis	HP:0040283	ORPHA:95159
7389	UROD	HP:0001030	Fragile skin	HP:0040281	ORPHA:95159
7389	UROD	HP:0001030	Fragile skin	-	OMIM:176100
7389	UROD	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:95159
7389	UROD	HP:0001096	Keratoconjunctivitis	HP:0040284	ORPHA:95159
7389	UROD	HP:0001072	Thickened skin	HP:0040283	ORPHA:95159
7389	UROD	HP:0200041	Skin erosion	HP:0040282	ORPHA:95159
7389	UROD	HP:0100699	Scarring	HP:0040282	ORPHA:95159
7389	UROD	HP:0034715	Reduced uroporphyrinogen decarboxylase activity	-	OMIM:176100
7389	UROD	HP:0005586	Hyperpigmentation in sun-exposed areas	-	OMIM:176100
7389	UROD	HP:0000618	Blindness	HP:0040284	ORPHA:95159
7389	UROD	HP:0000656	Ectropion	HP:0040283	ORPHA:95159
7389	UROD	HP:0011457	Loss of eyelashes	HP:0040283	ORPHA:95159
7389	UROD	HP:0030756	Erythrodontia	HP:0040282	ORPHA:95159
7389	UROD	HP:0100324	Scleroderma	-	OMIM:176100
7389	UROD	HP:0012804	Corneal ulceration	HP:0040283	ORPHA:95159
7389	UROD	HP:0004552	Scarring alopecia of scalp	HP:0040283	ORPHA:95159
7389	UROD	HP:0000992	Cutaneous photosensitivity	1/1	OMIM:176100
7389	UROD	HP:0000989	Pruritus	HP:0040284	ORPHA:95159
7389	UROD	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:95159
7389	UROD	HP:0000969	Edema	HP:0040284	ORPHA:95159
7389	UROD	HP:0000939	Osteoporosis	HP:0040283	ORPHA:95159
7389	UROD	HP:0000938	Osteopenia	HP:0040283	ORPHA:95159
7389	UROD	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:95159
7389	UROD	HP:0001596	Alopecia	-	OMIM:176100
7389	UROD	HP:0001560	Abnormality of the amniotic fluid	HP:0040283	ORPHA:95159
7389	UROD	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:95159
7389	UROD	HP:0001790	Nonimmune hydrops fetalis	HP:0040282	ORPHA:95159
7389	UROD	HP:0001744	Splenomegaly	HP:0040283	ORPHA:95159
7389	UROD	HP:0005406	Recurrent bacterial skin infections	HP:0040282	ORPHA:95159
7389	UROD	HP:0001806	Onycholysis	-	OMIM:176100
7389	UROD	HP:0032999	Increased fecal porphyrin	HP:0040282	ORPHA:95159
7389	UROD	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:95159
7389	UROD	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:95159
7390	UROS	HP:6000514	Reduced erythrocyte uroporphyrinogen III cosynthase activity	-	OMIM:263700
7390	UROS	HP:0034905	Elevated circulating uroporphyrin concentration	-	OMIM:263700
7390	UROS	HP:0500115	Increased stool urobilinogen concentration	HP:0040281	ORPHA:79277
7390	UROS	HP:0007537	Severe photosensitivity	HP:0040281	ORPHA:79277
7390	UROS	HP:0000007	Autosomal recessive inheritance	-	OMIM:263700
7390	UROS	HP:0012187	Increased erythrocyte protoporphyrin concentration	HP:0040281	ORPHA:79277
7390	UROS	HP:0012132	Erythroid hyperplasia	HP:0040283	ORPHA:79277
7390	UROS	HP:0002797	Osteolysis	-	OMIM:263700
7390	UROS	HP:0002797	Osteolysis	HP:0040284	ORPHA:79277
7390	UROS	HP:0500046	Seborrhoeic blepharitis	HP:0040284	ORPHA:79277
7390	UROS	HP:0002756	Pathologic fracture	-	OMIM:263700
7390	UROS	HP:0040318	Red urine	2/2	OMIM:263700
7390	UROS	HP:0040322	Purple urine	HP:0040282	ORPHA:79277
7390	UROS	HP:0040320	Red-brown urine	HP:0040282	ORPHA:79277
7390	UROS	HP:0100532	Scleritis	HP:0040284	ORPHA:79277
7390	UROS	HP:0100512	Decreased circulating vitamin D concentration	HP:0040283	ORPHA:79277
7390	UROS	HP:0010473	Porphyrinuria	HP:0040281	ORPHA:79277
7390	UROS	HP:0010472	Abnormal circulating porphyrin concentration	HP:0040281	ORPHA:79277
7390	UROS	HP:0009473	Joint contracture of the hand	-	OMIM:263700
7390	UROS	HP:0003401	Paresthesia	HP:0040284	ORPHA:79277
7390	UROS	HP:0008282	Unconjugated hyperbilirubinemia	HP:0040282	ORPHA:79277
7390	UROS	HP:0003577	Congenital onset	2/2	OMIM:263700
7390	UROS	HP:0002240	Hepatomegaly	2/2	OMIM:263700
7390	UROS	HP:0002223	Absent eyebrow	-	OMIM:263700
7390	UROS	HP:0002219	Facial hypertrichosis	HP:0040283	ORPHA:79277
7390	UROS	HP:0032001	Pink urine	-	OMIM:263700
7390	UROS	HP:0001030	Fragile skin	HP:0040281	ORPHA:79277
7390	UROS	HP:0001010	Hypopigmentation of the skin	-	OMIM:263700
7390	UROS	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:79277
7390	UROS	HP:0001096	Keratoconjunctivitis	HP:0040284	ORPHA:79277
7390	UROS	HP:0001072	Thickened skin	-	OMIM:263700
7390	UROS	HP:0001072	Thickened skin	HP:0040282	ORPHA:79277
7390	UROS	HP:0200041	Skin erosion	HP:0040282	ORPHA:79277
7390	UROS	HP:0001081	Cholelithiasis	-	OMIM:263700
7390	UROS	HP:0100699	Scarring	HP:0040282	ORPHA:79277
7390	UROS	HP:0020181	Reduced haptoglobin level	HP:0040283	ORPHA:79277
7390	UROS	HP:0000618	Blindness	HP:0040284	ORPHA:79277
7390	UROS	HP:0001923	Reticulocytosis	HP:0040283	ORPHA:79277
7390	UROS	HP:0009025	Increased connective tissue	HP:0040283	ORPHA:79277
7390	UROS	HP:0000656	Ectropion	HP:0040283	ORPHA:79277
7390	UROS	HP:0004322	Short stature	-	OMIM:263700
7390	UROS	HP:0011457	Loss of eyelashes	-	OMIM:263700
7390	UROS	HP:0011457	Loss of eyelashes	HP:0040283	ORPHA:79277
7390	UROS	HP:0004447	Poikilocytosis	HP:0040283	ORPHA:79277
7390	UROS	HP:0030756	Erythrodontia	20/20	OMIM:263700
7390	UROS	HP:0030756	Erythrodontia	HP:0040282	ORPHA:79277
7390	UROS	HP:0100324	Scleroderma	-	OMIM:263700
7390	UROS	HP:0012804	Corneal ulceration	HP:0040283	ORPHA:79277
7390	UROS	HP:0004552	Scarring alopecia of scalp	HP:0040283	ORPHA:79277
7390	UROS	HP:0000998	Hypertrichosis	-	OMIM:263700
7390	UROS	HP:0000992	Cutaneous photosensitivity	-	OMIM:263700
7390	UROS	HP:0000987	Atypical scarring of skin	-	OMIM:263700
7390	UROS	HP:0000989	Pruritus	HP:0040284	ORPHA:79277
7390	UROS	HP:0033009	Increased fecal coproporphyrin 1	2/2	OMIM:263700
7390	UROS	HP:0033009	Increased fecal coproporphyrin 1	HP:0040282	ORPHA:79277
7390	UROS	HP:0000953	Hyperpigmentation of the skin	-	OMIM:263700
7390	UROS	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:79277
7390	UROS	HP:0000952	Jaundice	2/2	OMIM:263700
7390	UROS	HP:0000969	Edema	HP:0040284	ORPHA:79277
7390	UROS	HP:0000939	Osteoporosis	HP:0040283	ORPHA:79277
7390	UROS	HP:0000938	Osteopenia	-	OMIM:263700
7390	UROS	HP:0000938	Osteopenia	HP:0040283	ORPHA:79277
7390	UROS	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:79277
7390	UROS	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:79277
7390	UROS	HP:0001596	Alopecia	-	OMIM:263700
7390	UROS	HP:0012217	Increased urinary porphobilinogen	HP:0040281	ORPHA:79277
7390	UROS	HP:0001560	Abnormality of the amniotic fluid	HP:0040283	ORPHA:79277
7390	UROS	HP:0002860	Squamous cell carcinoma	HP:0040284	ORPHA:79277
7390	UROS	HP:0002953	Vertebral compression fracture	-	OMIM:263700
7390	UROS	HP:0001790	Nonimmune hydrops fetalis	HP:0040282	ORPHA:79277
7390	UROS	HP:0001744	Splenomegaly	2/2	OMIM:263700
7390	UROS	HP:0001744	Splenomegaly	HP:0040283	ORPHA:79277
7390	UROS	HP:0005406	Recurrent bacterial skin infections	HP:0040282	ORPHA:79277
7390	UROS	HP:0011273	Anisocytosis	HP:0040283	ORPHA:79277
7390	UROS	HP:0000509	Conjunctivitis	-	OMIM:263700
7390	UROS	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:79277
7390	UROS	HP:0000559	Corneal scarring	-	OMIM:263700
7390	UROS	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:79277
7390	UROS	HP:0001878	Hemolytic anemia	1/2	OMIM:263700
7390	UROS	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:79277
7390	UROS	HP:0001873	Thrombocytopenia	1/2	OMIM:263700
7390	UROS	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:79277
7399	USH2A	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
7399	USH2A	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
7399	USH2A	HP:0001123	Visual field defect	-	OMIM:613809
7399	USH2A	HP:0001251	Ataxia	HP:0040283	ORPHA:231178
7399	USH2A	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:231178
7399	USH2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:276901
7399	USH2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
7399	USH2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:613809
7399	USH2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
7399	USH2A	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:231178
7399	USH2A	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
7399	USH2A	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
7399	USH2A	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
7399	USH2A	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
7399	USH2A	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:231178
7399	USH2A	HP:0100753	Schizophrenia	HP:0040283	ORPHA:231178
7399	USH2A	HP:0008527	Congenital sensorineural hearing impairment	-	OMIM:276901
7399	USH2A	HP:0003621	Juvenile onset	8/19	OMIM:180100
7399	USH2A	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
7399	USH2A	HP:0000639	Nystagmus	HP:0040283	ORPHA:231178
7399	USH2A	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
7399	USH2A	HP:0000618	Blindness	HP:0040281	ORPHA:791
7399	USH2A	HP:0000613	Photophobia	HP:0040281	ORPHA:791
7399	USH2A	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
7399	USH2A	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
7399	USH2A	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
7399	USH2A	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:231178
7399	USH2A	HP:0000691	Microdontia	HP:0040283	ORPHA:231178
7399	USH2A	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
7399	USH2A	HP:0000662	Nyctalopia	HP:0040281	ORPHA:231178
7399	USH2A	HP:0000662	Nyctalopia	26/28	OMIM:180100
7399	USH2A	HP:0000670	Carious teeth	HP:0040283	ORPHA:231178
7399	USH2A	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
7399	USH2A	HP:0000738	Hallucinations	HP:0040283	ORPHA:231178
7399	USH2A	HP:0000739	Anxiety	HP:0040283	ORPHA:231178
7399	USH2A	HP:0000716	Depression	HP:0040283	ORPHA:231178
7399	USH2A	HP:0011463	Childhood onset	3/19	OMIM:180100
7399	USH2A	HP:0011462	Young adult onset	8/19	OMIM:180100
7399	USH2A	HP:0030786	Photopsia	HP:0040283	ORPHA:791
7399	USH2A	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
7399	USH2A	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
7399	USH2A	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
7399	USH2A	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
7399	USH2A	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
7399	USH2A	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:613809
7399	USH2A	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
7399	USH2A	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
7399	USH2A	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:231178
7399	USH2A	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
7399	USH2A	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:613809
7399	USH2A	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
7399	USH2A	HP:0011073	Abnormality of dental color	HP:0040283	ORPHA:231178
7399	USH2A	HP:0012377	Hemianopia	HP:0040281	ORPHA:231178
7399	USH2A	HP:0000359	Abnormality of the inner ear	HP:0040281	ORPHA:231178
7399	USH2A	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
7399	USH2A	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
7399	USH2A	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:231178
7399	USH2A	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
7399	USH2A	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
7399	USH2A	HP:0000518	Cataract	HP:0040282	ORPHA:231178
7399	USH2A	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
7399	USH2A	HP:0000510	Rod-cone dystrophy	-	OMIM:276901
7399	USH2A	HP:0000510	Rod-cone dystrophy	-	OMIM:613809
7399	USH2A	HP:0000512	Abnormal electroretinogram	-	OMIM:613809
7399	USH2A	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:231178
7399	USH2A	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
7399	USH2A	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
7399	USH2A	HP:0000505	Visual impairment	-	OMIM:613809
7399	USH2A	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
7399	USH2A	HP:0000575	Scotoma	5/18	OMIM:180100
7399	USH2A	HP:0000575	Scotoma	HP:0040281	ORPHA:231178
7399	USH2A	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
7399	USH2A	HP:0000572	Visual loss	HP:0040281	ORPHA:231178
7399	USH2A	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
7399	USH2A	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
7399	USH2A	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
7399	USH2A	HP:0000543	Optic disc pallor	1/1	OMIM:180100
7399	USH2A	HP:0000545	Myopia	-	OMIM:180100
7399	USH2A	HP:0000545	Myopia	HP:0040282	ORPHA:231178
7401	CLRN1	HP:0001133	Constriction of peripheral visual field	-	OMIM:268000
7401	CLRN1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
7401	CLRN1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
7401	CLRN1	HP:0001123	Visual field defect	HP:0040282	OMIM:276902
7401	CLRN1	HP:0001251	Ataxia	HP:0040282	ORPHA:231183
7401	CLRN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:276902
7401	CLRN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
7401	CLRN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:268000
7401	CLRN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614180
7401	CLRN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
7401	CLRN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:268000
7401	CLRN1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:614180
7401	CLRN1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
7401	CLRN1	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
7401	CLRN1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
7401	CLRN1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
7401	CLRN1	HP:0007663	Reduced visual acuity	2/2	OMIM:276902
7401	CLRN1	HP:0001419	X-linked recessive inheritance	-	OMIM:268000
7401	CLRN1	HP:0003577	Congenital onset	1/2	OMIM:276902
7401	CLRN1	HP:0100753	Schizophrenia	HP:0040283	ORPHA:231183
7401	CLRN1	HP:0008499	High hypermetropia	HP:0040282	ORPHA:231183
7401	CLRN1	HP:0003621	Juvenile onset	8/19	OMIM:180100
7401	CLRN1	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
7401	CLRN1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
7401	CLRN1	HP:0000618	Blindness	HP:0040281	ORPHA:791
7401	CLRN1	HP:0000613	Photophobia	HP:0040281	ORPHA:791
7401	CLRN1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
7401	CLRN1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
7401	CLRN1	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
7401	CLRN1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
7401	CLRN1	HP:0000662	Nyctalopia	-	OMIM:268000
7401	CLRN1	HP:0000662	Nyctalopia	-	OMIM:276902
7401	CLRN1	HP:0000662	Nyctalopia	-	OMIM:614180
7401	CLRN1	HP:0000662	Nyctalopia	26/28	OMIM:180100
7401	CLRN1	HP:0000662	Nyctalopia	HP:0040281	ORPHA:231183
7401	CLRN1	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
7401	CLRN1	HP:0000738	Hallucinations	HP:0040283	ORPHA:231183
7401	CLRN1	HP:0000739	Anxiety	HP:0040283	ORPHA:231183
7401	CLRN1	HP:0000716	Depression	HP:0040283	ORPHA:231183
7401	CLRN1	HP:0011463	Childhood onset	3/19	OMIM:180100
7401	CLRN1	HP:0011463	Childhood onset	1/2	OMIM:276902
7401	CLRN1	HP:0011462	Young adult onset	8/19	OMIM:180100
7401	CLRN1	HP:0030786	Photopsia	HP:0040283	ORPHA:791
7401	CLRN1	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
7401	CLRN1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
7401	CLRN1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
7401	CLRN1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
7401	CLRN1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
7401	CLRN1	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:614180
7401	CLRN1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
7401	CLRN1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
7401	CLRN1	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:231183
7401	CLRN1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
7401	CLRN1	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:614180
7401	CLRN1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
7401	CLRN1	HP:0012377	Hemianopia	HP:0040281	ORPHA:231183
7401	CLRN1	HP:0000375	Abnormal cochlea morphology	HP:0040281	ORPHA:231183
7401	CLRN1	HP:0031605	Abnormality of fundus pigmentation	-	OMIM:268000
7401	CLRN1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
7401	CLRN1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
7401	CLRN1	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:276902
7401	CLRN1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:231183
7401	CLRN1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
7401	CLRN1	HP:0000483	Astigmatism	HP:0040282	ORPHA:231183
7401	CLRN1	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
7401	CLRN1	HP:0001751	Abnormal vestibular function	1/2	OMIM:276902
7401	CLRN1	HP:0001756	Vestibular hyporeflexia	HP:0040281	ORPHA:231183
7401	CLRN1	HP:0000518	Cataract	HP:0040282	ORPHA:231183
7401	CLRN1	HP:0000510	Rod-cone dystrophy	-	OMIM:614180
7401	CLRN1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
7401	CLRN1	HP:0000510	Rod-cone dystrophy	20/20	OMIM:268000
7401	CLRN1	HP:0000510	Rod-cone dystrophy	2/2	OMIM:276902
7401	CLRN1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
7401	CLRN1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:231183
7401	CLRN1	HP:0000505	Visual impairment	-	OMIM:614180
7401	CLRN1	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
7401	CLRN1	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
7401	CLRN1	HP:0000575	Scotoma	5/18	OMIM:180100
7401	CLRN1	HP:0000575	Scotoma	HP:0040281	ORPHA:231183
7401	CLRN1	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
7401	CLRN1	HP:0000572	Visual loss	HP:0040281	ORPHA:231183
7401	CLRN1	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
7401	CLRN1	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
7401	CLRN1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
7401	CLRN1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
7401	CLRN1	HP:0000545	Myopia	-	OMIM:180100
7403	KDM6A	HP:0001156	Brachydactyly	19/60	OMIM:300867
7403	KDM6A	HP:0001156	Brachydactyly	4/4	OMIM:147920
7403	KDM6A	HP:0001156	Brachydactyly	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0025186	Marcus Gunn jaw winking synkinesis	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0008551	Microtia	1/1	OMIM:147920
7403	KDM6A	HP:0001290	Generalized hypotonia	1/3	OMIM:300867
7403	KDM6A	HP:0001270	Motor delay	4/10	OMIM:147920
7403	KDM6A	HP:0001256	Intellectual disability, mild	5/13	OMIM:147920
7403	KDM6A	HP:0001250	Seizure	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0001250	Seizure	1/3	OMIM:300867
7403	KDM6A	HP:0001250	Seizure	4/25	OMIM:147920
7403	KDM6A	HP:0001252	Hypotonia	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0001252	Hypotonia	-	OMIM:300867
7403	KDM6A	HP:0001252	Hypotonia	22/32	OMIM:147920
7403	KDM6A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2322
7403	KDM6A	HP:0001249	Intellectual disability	5/5	OMIM:300867
7403	KDM6A	HP:0001249	Intellectual disability	95/97	OMIM:147920
7403	KDM6A	HP:0001260	Dysarthria	1/1	OMIM:147920
7403	KDM6A	HP:0001263	Global developmental delay	4/4	OMIM:300867
7403	KDM6A	HP:0001263	Global developmental delay	40/42	OMIM:147920
7403	KDM6A	HP:0002561	Absent nipple	5/12	OMIM:147920
7403	KDM6A	HP:0002557	Hypoplastic nipples	5/12	OMIM:147920
7403	KDM6A	HP:0002566	Intestinal malrotation	-	OMIM:147920
7403	KDM6A	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0031087	Absent pubertal growth spurt	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/1	OMIM:147920
7403	KDM6A	HP:0001212	Prominent fingertip pads	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0001212	Prominent fingertip pads	2/2	OMIM:300867
7403	KDM6A	HP:0001212	Prominent fingertip pads	31/39	OMIM:147920
7403	KDM6A	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:2322
7403	KDM6A	HP:0002553	Highly arched eyebrow	1/3	OMIM:300867
7403	KDM6A	HP:0002553	Highly arched eyebrow	22/30	OMIM:147920
7403	KDM6A	HP:0032315	Areolar fullness	3/3	OMIM:300867
7403	KDM6A	HP:0000089	Renal hypoplasia	0/4	OMIM:147920
7403	KDM6A	HP:0000083	Renal insufficiency	1/1	OMIM:147920
7403	KDM6A	HP:0000086	Ectopic kidney	2/11	OMIM:147920
7403	KDM6A	HP:0000085	Horseshoe kidney	4/53	OMIM:300867
7403	KDM6A	HP:0000085	Horseshoe kidney	0/4	OMIM:147920
7403	KDM6A	HP:0000081	Duplicated collecting system	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0000081	Duplicated collecting system	0/3	OMIM:147920
7403	KDM6A	HP:0000076	Vesicoureteral reflux	0/3	OMIM:147920
7403	KDM6A	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0000073	Ureteral duplication	1/13	OMIM:147920
7403	KDM6A	HP:0000075	Renal duplication	2/13	OMIM:147920
7403	KDM6A	HP:0000074	Ureteropelvic junction obstruction	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0000074	Ureteropelvic junction obstruction	1/1	OMIM:147920
7403	KDM6A	HP:0001374	Congenital hip dislocation	6/23	OMIM:147920
7403	KDM6A	HP:0001373	Joint dislocation	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0001373	Joint dislocation	13/40	OMIM:147920
7403	KDM6A	HP:0000054	Micropenis	-	OMIM:147920
7403	KDM6A	HP:0001385	Hip dysplasia	3/3	OMIM:147920
7403	KDM6A	HP:0001382	Joint hypermobility	2/4	OMIM:300867
7403	KDM6A	HP:0001382	Joint hypermobility	5/19	OMIM:147920
7403	KDM6A	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0000047	Hypospadias	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0000023	Inguinal hernia	0/6	OMIM:147920
7403	KDM6A	HP:0001363	Craniosynostosis	1/1	OMIM:147920
7403	KDM6A	HP:0000028	Cryptorchidism	1/1	OMIM:147920
7403	KDM6A	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:2322
7403	KDM6A	HP:0008897	Postnatal growth retardation	4/4	OMIM:300867
7403	KDM6A	HP:0008897	Postnatal growth retardation	10/14	OMIM:147920
7403	KDM6A	HP:0008872	Feeding difficulties in infancy	42/50	OMIM:300867
7403	KDM6A	HP:0008872	Feeding difficulties in infancy	32/36	OMIM:147920
7403	KDM6A	HP:0007477	Abnormal dermatoglyphics	HP:0040281	ORPHA:2322
7403	KDM6A	HP:0000003	Multicystic kidney dysplasia	1/14	OMIM:147920
7403	KDM6A	HP:0000006	Autosomal dominant inheritance	-	OMIM:147920
7403	KDM6A	HP:0002650	Scoliosis	9/35	OMIM:147920
7403	KDM6A	HP:0002650	Scoliosis	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0000179	Thick lower lip vermilion	4/4	OMIM:147920
7403	KDM6A	HP:0000193	Bifid uvula	2/3	OMIM:147920
7403	KDM6A	HP:0000196	Lower lip pit	1/4	OMIM:300867
7403	KDM6A	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0000164	Abnormality of the dentition	-	OMIM:147920
7403	KDM6A	HP:0000161	Median cleft upper lip	1/2	OMIM:147920
7403	KDM6A	HP:0001488	Bilateral ptosis	1/1	OMIM:147920
7403	KDM6A	HP:0000175	Cleft palate	1/3	OMIM:300867
7403	KDM6A	HP:0000175	Cleft palate	40/69	OMIM:147920
7403	KDM6A	HP:0000175	Cleft palate	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0006335	Persistence of primary teeth	2/4	OMIM:147920
7403	KDM6A	HP:0007655	Eversion of lateral third of lower eyelids	HP:0040281	ORPHA:2322
7403	KDM6A	HP:0007655	Eversion of lateral third of lower eyelids	4/5	OMIM:300867
7403	KDM6A	HP:0007655	Eversion of lateral third of lower eyelids	19/22	OMIM:147920
7403	KDM6A	HP:0410030	Cleft lip	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0008947	Floppy infant	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0002705	High, narrow palate	14/14	OMIM:147920
7403	KDM6A	HP:0000122	Unilateral renal agenesis	0/4	OMIM:147920
7403	KDM6A	HP:0000125	Pelvic kidney	0/4	OMIM:147920
7403	KDM6A	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0000126	Hydronephrosis	1/5	OMIM:147920
7403	KDM6A	HP:0001423	X-linked dominant inheritance	-	OMIM:300867
7403	KDM6A	HP:0000110	Renal dysplasia	0/4	OMIM:147920
7403	KDM6A	HP:0002719	Recurrent infections	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0002719	Recurrent infections	40/64	OMIM:147920
7403	KDM6A	HP:0002720	Decreased circulating IgA concentration	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0002720	Decreased circulating IgA concentration	4/13	OMIM:147920
7403	KDM6A	HP:0002025	Anal stenosis	-	OMIM:147920
7403	KDM6A	HP:0002023	Anal atresia	1/6	OMIM:147920
7403	KDM6A	HP:0002024	Malabsorption	-	OMIM:147920
7403	KDM6A	HP:0002020	Gastroesophageal reflux	5/17	OMIM:147920
7403	KDM6A	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0002000	Short columella	2/3	OMIM:300867
7403	KDM6A	HP:0002000	Short columella	HP:0040281	ORPHA:2322
7403	KDM6A	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:2322
7403	KDM6A	HP:0003316	Butterfly vertebrae	HP:0040281	ORPHA:2322
7403	KDM6A	HP:0003316	Butterfly vertebrae	1/1	OMIM:147920
7403	KDM6A	HP:0011800	Midface retrusion	2/2	OMIM:147920
7403	KDM6A	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0002092	Pulmonary arterial hypertension	3/10	OMIM:147920
7403	KDM6A	HP:0002079	Hypoplasia of the corpus callosum	0/6	OMIM:147920
7403	KDM6A	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0002100	Recurrent aspiration pneumonia	-	OMIM:147920
7403	KDM6A	HP:0004736	Crossed fused renal ectopia	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0004736	Crossed fused renal ectopia	-	OMIM:147920
7403	KDM6A	HP:0002162	Low posterior hairline	2/7	OMIM:147920
7403	KDM6A	HP:0003593	Infantile onset	5/17	OMIM:147920
7403	KDM6A	HP:0003577	Congenital onset	9/10	OMIM:147920
7403	KDM6A	HP:0009748	Large earlobe	14/14	OMIM:147920
7403	KDM6A	HP:0033328	Type II pneumocyte hyperplasia	1/1	OMIM:147920
7403	KDM6A	HP:0008348	Decreased circulating IgG2 concentration	1/13	OMIM:147920
7403	KDM6A	HP:0011968	Feeding difficulties	8/25	OMIM:147920
7403	KDM6A	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0011950	Bronchiolitis	1/1	OMIM:147920
7403	KDM6A	HP:0003510	Severe short stature	11/13	OMIM:147920
7403	KDM6A	HP:0007099	Chiari type I malformation	0/10	OMIM:147920
7403	KDM6A	HP:0002384	Focal impaired awareness seizure	1/1	OMIM:147920
7403	KDM6A	HP:0001007	Hirsutism	1/3	OMIM:300867
7403	KDM6A	HP:0001007	Hirsutism	-	OMIM:147920
7403	KDM6A	HP:0002353	EEG abnormality	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0010804	Tented upper lip vermilion	1/1	OMIM:147920
7403	KDM6A	HP:0200055	Small hand	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0032132	Decreased circulating total IgG concentration	2/13	OMIM:147920
7403	KDM6A	HP:0009797	Cholesteatoma	1/6	OMIM:147920
7403	KDM6A	HP:0010751	Dimple chin	1/1	OMIM:147920
7403	KDM6A	HP:0008428	Vertebral clefting	HP:0040281	ORPHA:2322
7403	KDM6A	HP:0003623	Neonatal onset	6/13	OMIM:147920
7403	KDM6A	HP:0003621	Juvenile onset	4/14	OMIM:147920
7403	KDM6A	HP:0006870	Lobar holoprosencephaly	1/1	OMIM:147920
7403	KDM6A	HP:0004209	Clinodactyly of the 5th finger	6/20	OMIM:147920
7403	KDM6A	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0000639	Nystagmus	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0000639	Nystagmus	5/48	OMIM:300867
7403	KDM6A	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0000637	Long palpebral fissure	5/5	OMIM:300867
7403	KDM6A	HP:0000637	Long palpebral fissure	27/31	OMIM:147920
7403	KDM6A	HP:0001973	Autoimmune thrombocytopenia	-	OMIM:147920
7403	KDM6A	HP:0001943	Hypoglycemia	1/6	OMIM:147920
7403	KDM6A	HP:0000609	Optic nerve hypoplasia	HP:0040284	ORPHA:2322
7403	KDM6A	HP:0000601	Hypotelorism	3/3	OMIM:147920
7403	KDM6A	HP:0011381	Aplasia of the semicircular canal	3/4	OMIM:147920
7403	KDM6A	HP:0000677	Oligodontia	3/3	OMIM:147920
7403	KDM6A	HP:0000695	Natal tooth	7/45	OMIM:300867
7403	KDM6A	HP:0000691	Microdontia	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0000691	Microdontia	3/5	OMIM:147920
7403	KDM6A	HP:0000689	Dental malocclusion	7/45	OMIM:300867
7403	KDM6A	HP:0000689	Dental malocclusion	1/4	OMIM:147920
7403	KDM6A	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0000687	Widely spaced teeth	1/4	OMIM:147920
7403	KDM6A	HP:0000659	Peters anomaly	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0000668	Hypodontia	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0000668	Hypodontia	2/4	OMIM:300867
7403	KDM6A	HP:0001998	Neonatal hypoglycemia	5/10	OMIM:300867
7403	KDM6A	HP:0006988	Alobar holoprosencephaly	2/3	OMIM:147920
7403	KDM6A	HP:0004325	Decreased body weight	-	OMIM:300867
7403	KDM6A	HP:0004322	Short stature	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0004322	Short stature	5/5	OMIM:300867
7403	KDM6A	HP:0004322	Short stature	11/20	OMIM:147920
7403	KDM6A	HP:0006956	Lateral ventricle dilatation	1/1	OMIM:147920
7403	KDM6A	HP:0004383	Hypoplastic left heart	1/30	OMIM:147920
7403	KDM6A	HP:0034198	Second trimester onset	2/2	OMIM:147920
7403	KDM6A	HP:0012732	Anorectal anomaly	HP:0040284	ORPHA:2322
7403	KDM6A	HP:0000750	Delayed speech and language development	10/12	OMIM:147920
7403	KDM6A	HP:0000729	Autistic behavior	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0000708	Atypical behavior	-	OMIM:300867
7403	KDM6A	HP:0011463	Childhood onset	6/14	OMIM:147920
7403	KDM6A	HP:0011461	Fetal onset	1/1	OMIM:147920
7403	KDM6A	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:2322
7403	KDM6A	HP:0003196	Short nose	2/2	OMIM:147920
7403	KDM6A	HP:0004467	Preauricular pit	6/12	OMIM:147920
7403	KDM6A	HP:0000851	Congenital hypothyroidism	3/6	OMIM:147920
7403	KDM6A	HP:0012806	Proboscis	1/2	OMIM:147920
7403	KDM6A	HP:0000829	Hypoparathyroidism	4/4	OMIM:147920
7403	KDM6A	HP:0000826	Precocious puberty	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040284	ORPHA:2322
7403	KDM6A	HP:0000821	Hypothyroidism	4/4	OMIM:147920
7403	KDM6A	HP:0000824	Decreased response to growth hormone stimulation test	1/1	OMIM:147920
7403	KDM6A	HP:0040019	Finger clinodactyly	10/10	OMIM:147920
7403	KDM6A	HP:0009237	Short 5th finger	1/4	OMIM:300867
7403	KDM6A	HP:0009237	Short 5th finger	HP:0040281	ORPHA:2322
7403	KDM6A	HP:0009237	Short 5th finger	16/16	OMIM:147920
7403	KDM6A	HP:0045075	Sparse eyebrow	4/8	OMIM:147920
7403	KDM6A	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0100267	Lip pit	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0010314	Premature thelarche	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0010314	Premature thelarche	-	OMIM:147920
7403	KDM6A	HP:0100272	Branchial sinus	2/4	OMIM:147920
7403	KDM6A	HP:0034323	Reduced circulating growth hormone concentration	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0011626	Scimitar anomaly	1/30	OMIM:147920
7403	KDM6A	HP:0011611	Interrupted aortic arch	1/30	OMIM:147920
7403	KDM6A	HP:0000957	Cafe-au-lait spot	-	OMIM:147920
7403	KDM6A	HP:0000954	Single transverse palmar crease	2/3	OMIM:147920
7403	KDM6A	HP:0000960	Sacral dimple	6/12	OMIM:147920
7403	KDM6A	HP:0005819	Short middle phalanx of finger	HP:0040281	ORPHA:2322
7403	KDM6A	HP:0000286	Epicanthus	1/6	OMIM:147920
7403	KDM6A	HP:0000286	Epicanthus	2/5	OMIM:300867
7403	KDM6A	HP:0000278	Retrognathia	1/1	OMIM:147920
7403	KDM6A	HP:0002827	Hip dislocation	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0002827	Hip dislocation	2/3	OMIM:300867
7403	KDM6A	HP:0000238	Hydrocephalus	1/7	OMIM:147920
7403	KDM6A	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0000252	Microcephaly	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0000252	Microcephaly	2/4	OMIM:300867
7403	KDM6A	HP:0000252	Microcephaly	7/18	OMIM:147920
7403	KDM6A	HP:0000219	Thin upper lip vermilion	7/10	OMIM:147920
7403	KDM6A	HP:0000218	High palate	6/7	OMIM:147920
7403	KDM6A	HP:0000218	High palate	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0000218	High palate	3/4	OMIM:300867
7403	KDM6A	HP:0000215	Thick upper lip vermilion	0/3	OMIM:147920
7403	KDM6A	HP:0001545	Anteriorly placed anus	1/1	OMIM:147920
7403	KDM6A	HP:0001561	Polyhydramnios	1/2	OMIM:147920
7403	KDM6A	HP:0000233	Thin vermilion border	2/2	OMIM:147920
7403	KDM6A	HP:0030001	Lagophthalmos	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0001511	Intrauterine growth retardation	2/4	OMIM:300867
7403	KDM6A	HP:0001511	Intrauterine growth retardation	1/1	OMIM:147920
7403	KDM6A	HP:0001510	Growth delay	2/2	OMIM:147920
7403	KDM6A	HP:0001513	Obesity	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0001513	Obesity	1/1	OMIM:147920
7403	KDM6A	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0000378	Cupped ear	HP:0040283	OMIM:300867
7403	KDM6A	HP:0000378	Cupped ear	1/3	OMIM:147920
7403	KDM6A	HP:0000396	Overfolded helix	0/1	OMIM:147920
7403	KDM6A	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0005218	Anoperineal fistula	-	OMIM:147920
7403	KDM6A	HP:0002937	Hemivertebrae	HP:0040281	ORPHA:2322
7403	KDM6A	HP:0002943	Thoracic scoliosis	1/1	OMIM:147920
7403	KDM6A	HP:0001612	Weak cry	1/1	OMIM:147920
7403	KDM6A	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0000365	Hearing impairment	22/43	OMIM:147920
7403	KDM6A	HP:0000365	Hearing impairment	1/3	OMIM:300867
7403	KDM6A	HP:0000356	Abnormality of the outer ear	HP:0040281	ORPHA:2322
7403	KDM6A	HP:0000358	Posteriorly rotated ears	1/6	OMIM:147920
7403	KDM6A	HP:0000369	Low-set ears	3/6	OMIM:147920
7403	KDM6A	HP:0000369	Low-set ears	1/4	OMIM:300867
7403	KDM6A	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0001667	Right ventricular hypertrophy	1/29	OMIM:147920
7403	KDM6A	HP:0001684	Secundum atrial septal defect	0/6	OMIM:147920
7403	KDM6A	HP:0001680	Coarctation of aorta	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0001680	Coarctation of aorta	8/60	OMIM:300867
7403	KDM6A	HP:0001680	Coarctation of aorta	4/36	OMIM:147920
7403	KDM6A	HP:0000348	High forehead	6/11	OMIM:147920
7403	KDM6A	HP:0000347	Micrognathia	8/16	OMIM:147920
7403	KDM6A	HP:0000347	Micrognathia	1/3	OMIM:300867
7403	KDM6A	HP:0001650	Aortic valve stenosis	1/30	OMIM:147920
7403	KDM6A	HP:0000319	Smooth philtrum	3/3	OMIM:147920
7403	KDM6A	HP:0001647	Bicuspid aortic valve	1/20	OMIM:147920
7403	KDM6A	HP:0000316	Hypertelorism	2/7	OMIM:147920
7403	KDM6A	HP:0001643	Patent ductus arteriosus	5/45	OMIM:147920
7403	KDM6A	HP:0001642	Pulmonic stenosis	HP:0040283	OMIM:300867
7403	KDM6A	HP:0001655	Patent foramen ovale	5/35	OMIM:147920
7403	KDM6A	HP:0001629	Ventricular septal defect	5/36	OMIM:147920
7403	KDM6A	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0001636	Tetralogy of Fallot	0/20	OMIM:147920
7403	KDM6A	HP:0001631	Atrial septal defect	HP:0040283	OMIM:300867
7403	KDM6A	HP:0001631	Atrial septal defect	6/15	OMIM:147920
7403	KDM6A	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0001633	Abnormal mitral valve morphology	0/20	OMIM:147920
7403	KDM6A	HP:0031631	Subpleural honeycombing	1/1	OMIM:147920
7403	KDM6A	HP:0006695	Atrioventricular canal defect	HP:0040283	OMIM:300867
7403	KDM6A	HP:0410386	Decreased proportion of CD4-positive memory T cells	8/13	OMIM:147920
7403	KDM6A	HP:0005338	Sparse lateral eyebrow	HP:0040281	ORPHA:2322
7403	KDM6A	HP:0005338	Sparse lateral eyebrow	-	OMIM:300867
7403	KDM6A	HP:0005338	Sparse lateral eyebrow	11/11	OMIM:147920
7403	KDM6A	HP:0000407	Sensorineural hearing impairment	6/6	OMIM:147920
7403	KDM6A	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0000403	Recurrent otitis media	2/5	OMIM:300867
7403	KDM6A	HP:0000403	Recurrent otitis media	14/21	OMIM:147920
7403	KDM6A	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0000400	Macrotia	HP:0040281	ORPHA:2322
7403	KDM6A	HP:0000400	Macrotia	10/11	OMIM:300867
7403	KDM6A	HP:0000400	Macrotia	24/30	OMIM:147920
7403	KDM6A	HP:0001718	Mitral stenosis	0/6	OMIM:147920
7403	KDM6A	HP:0005280	Depressed nasal bridge	2/3	OMIM:147920
7403	KDM6A	HP:0000486	Strabismus	6/24	OMIM:147920
7403	KDM6A	HP:0000486	Strabismus	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0000486	Strabismus	15/48	OMIM:300867
7403	KDM6A	HP:0000480	Retinal coloboma	0/1	OMIM:147920
7403	KDM6A	HP:0000482	Microcornea	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0000494	Downslanted palpebral fissures	4/4	OMIM:147920
7403	KDM6A	HP:0000463	Anteverted nares	3/3	OMIM:147920
7403	KDM6A	HP:0000455	Broad nasal tip	-	OMIM:300867
7403	KDM6A	HP:0000457	Depressed nasal ridge	2/6	OMIM:147920
7403	KDM6A	HP:0000437	Depressed nasal tip	3/4	OMIM:300867
7403	KDM6A	HP:0000437	Depressed nasal tip	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0000437	Depressed nasal tip	38/49	OMIM:147920
7403	KDM6A	HP:0000453	Choanal atresia	8/8	OMIM:147920
7403	KDM6A	HP:0000445	Wide nose	1/1	OMIM:147920
7403	KDM6A	HP:0001750	Single ventricle	0/2	OMIM:147920
7403	KDM6A	HP:0000411	Protruding ear	HP:0040281	ORPHA:2322
7403	KDM6A	HP:0000411	Protruding ear	2/4	OMIM:300867
7403	KDM6A	HP:0000411	Protruding ear	3/3	OMIM:147920
7403	KDM6A	HP:0001741	Phimosis	0/1	OMIM:147920
7403	KDM6A	HP:0001744	Splenomegaly	1/8	OMIM:147920
7403	KDM6A	HP:0000431	Wide nasal bridge	14/17	OMIM:147920
7403	KDM6A	HP:0000430	Underdeveloped nasal alae	4/6	OMIM:147920
7403	KDM6A	HP:0030434	Pilomatrixoma	HP:0040284	ORPHA:2322
7403	KDM6A	HP:0000527	Long eyelashes	HP:0040281	ORPHA:2322
7403	KDM6A	HP:0000527	Long eyelashes	-	OMIM:300867
7403	KDM6A	HP:0000527	Long eyelashes	3/7	OMIM:147920
7403	KDM6A	HP:0000506	Telecanthus	1/1	OMIM:147920
7403	KDM6A	HP:0000508	Ptosis	2/18	OMIM:147920
7403	KDM6A	HP:0000508	Ptosis	HP:0040282	ORPHA:2322
7403	KDM6A	HP:0012584	Bilateral renal hypoplasia	1/1	OMIM:147920
7403	KDM6A	HP:0000579	Nasolacrimal duct obstruction	1/1	OMIM:147920
7403	KDM6A	HP:0000592	Blue sclerae	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0000592	Blue sclerae	6/11	OMIM:300867
7403	KDM6A	HP:0000592	Blue sclerae	7/17	OMIM:147920
7403	KDM6A	HP:0011231	Prominent eyelashes	-	OMIM:147920
7403	KDM6A	HP:0000589	Coloboma	HP:0040283	ORPHA:2322
7403	KDM6A	HP:0030374	Decreased proportion of memory B cells	11/13	OMIM:147920
7403	KDM6A	HP:0000568	Microphthalmia	HP:0040284	ORPHA:2322
7403	KDM6A	HP:0001878	Hemolytic anemia	-	OMIM:147920
7407	VARS1	HP:0002421	Poor head control	1/2	OMIM:617802
7407	VARS1	HP:0001290	Generalized hypotonia	1/2	OMIM:617802
7407	VARS1	HP:0001272	Cerebellar atrophy	1/2	OMIM:617802
7407	VARS1	HP:0001270	Motor delay	2/2	OMIM:617802
7407	VARS1	HP:0001250	Seizure	4/7	OMIM:617802
7407	VARS1	HP:0002580	Volvulus	1/2	OMIM:617802
7407	VARS1	HP:0001252	Hypotonia	2/2	OMIM:617802
7407	VARS1	HP:0001249	Intellectual disability	2/2	OMIM:617802
7407	VARS1	HP:0001263	Global developmental delay	4/5	OMIM:617802
7407	VARS1	HP:0007359	Focal-onset seizure	1/2	OMIM:617802
7407	VARS1	HP:0002540	Inability to walk	-	OMIM:617802
7407	VARS1	HP:0001344	Absent speech	2/2	OMIM:617802
7407	VARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617802
7407	VARS1	HP:0500041	Myopic astigmatism	1/2	OMIM:617802
7407	VARS1	HP:0002783	Recurrent lower respiratory tract infections	1/2	OMIM:617802
7407	VARS1	HP:0002015	Dysphagia	1/2	OMIM:617802
7407	VARS1	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:617802
7407	VARS1	HP:0002059	Cerebral atrophy	2/2	OMIM:617802
7407	VARS1	HP:0002120	Cerebral cortical atrophy	3/3	OMIM:617802
7407	VARS1	HP:0002133	Status epilepticus	1/2	OMIM:617802
7407	VARS1	HP:0002187	Intellectual disability, profound	-	OMIM:617802
7407	VARS1	HP:0003593	Infantile onset	1/2	OMIM:617802
7407	VARS1	HP:0003577	Congenital onset	3/4	OMIM:617802
7407	VARS1	HP:0002283	Global brain atrophy	1/2	OMIM:617802
7407	VARS1	HP:0003676	Progressive	-	OMIM:617802
7407	VARS1	HP:0008513	Bilateral conductive hearing impairment	1/2	OMIM:617802
7407	VARS1	HP:0000695	Natal tooth	1/2	OMIM:617802
7407	VARS1	HP:0000733	Motor stereotypy	1/2	OMIM:617802
7407	VARS1	HP:0003196	Short nose	1/2	OMIM:617802
7407	VARS1	HP:0006466	Ankle flexion contracture	1/2	OMIM:617802
7407	VARS1	HP:0000237	Small anterior fontanelle	1/2	OMIM:617802
7407	VARS1	HP:0000253	Progressive microcephaly	2/2	OMIM:617802
7407	VARS1	HP:0000252	Microcephaly	7/7	OMIM:617802
7407	VARS1	HP:0001612	Weak cry	1/2	OMIM:617802
7407	VARS1	HP:0000369	Low-set ears	1/2	OMIM:617802
7407	VARS1	HP:0000340	Sloping forehead	1/2	OMIM:617802
7407	VARS1	HP:0000347	Micrognathia	1/2	OMIM:617802
7407	VARS1	HP:0001623	Breech presentation	1/2	OMIM:617802
7407	VARS1	HP:0001622	Premature birth	2/2	OMIM:617802
7407	VARS1	HP:0011182	Interictal epileptiform activity	1/2	OMIM:617802
7407	VARS1	HP:0005280	Depressed nasal bridge	1/2	OMIM:617802
7407	VARS1	HP:0000527	Long eyelashes	1/2	OMIM:617802
7407	VARS1	HP:0000545	Myopia	1/2	OMIM:617802
7414	VCL	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
7414	VCL	HP:0000006	Autosomal dominant inheritance	-	OMIM:613255
7414	VCL	HP:0000006	Autosomal dominant inheritance	-	OMIM:611407
7414	VCL	HP:0033755	Increased left ventricular end-diastolic volume	3/3	OMIM:611407
7414	VCL	HP:0002092	Pulmonary arterial hypertension	1/1	OMIM:613255
7414	VCL	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
7414	VCL	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
7414	VCL	HP:0003596	Middle age onset	1/1	OMIM:613255
7414	VCL	HP:0003596	Middle age onset	1/3	OMIM:611407
7414	VCL	HP:0003584	Late onset	1/1	OMIM:613255
7414	VCL	HP:0032092	Left ventricular outflow tract obstruction	2/2	OMIM:613255
7414	VCL	HP:0012664	Reduced left ventricular ejection fraction	2/3	OMIM:611407
7414	VCL	HP:0031992	Apical hypertrophic cardiomyopathy	1/1	OMIM:613255
7414	VCL	HP:0011462	Young adult onset	2/3	OMIM:611407
7414	VCL	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
7414	VCL	HP:0003198	Myopathy	HP:0040283	ORPHA:154
7414	VCL	HP:0034313	Hyperdynamic left ventricular ejection fraction	1/1	OMIM:613255
7414	VCL	HP:0000969	Edema	HP:0040282	ORPHA:154
7414	VCL	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
7414	VCL	HP:0031318	Myofiber disarray	2/2	OMIM:613255
7414	VCL	HP:0031319	Cardiomyocyte hypertrophy	2/2	OMIM:613255
7414	VCL	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
7414	VCL	HP:0002875	Exertional dyspnea	2/2	OMIM:613255
7414	VCL	HP:0012378	Fatigue	HP:0040282	ORPHA:154
7414	VCL	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
7414	VCL	HP:0001644	Dilated cardiomyopathy	3/3	OMIM:611407
7414	VCL	HP:0001639	Hypertrophic cardiomyopathy	2/2	OMIM:613255
7414	VCL	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
7414	VCL	HP:0001635	Congestive heart failure	2/2	OMIM:613255
7414	VCL	HP:0006685	Endocardial fibrosis	1/1	OMIM:613255
7414	VCL	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
7414	VCL	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
7415	VCP	HP:0002493	Upper motor neuron dysfunction	HP:0040283	ORPHA:275864
7415	VCP	HP:0002493	Upper motor neuron dysfunction	HP:0040283	ORPHA:52430
7415	VCP	HP:0002465	Poor speech	HP:0040281	ORPHA:275864
7415	VCP	HP:0002463	Language impairment	HP:0040283	ORPHA:52430
7415	VCP	HP:0002463	Language impairment	HP:0040283	ORPHA:803
7415	VCP	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:275872
7415	VCP	HP:0002460	Distal muscle weakness	HP:0040281	ORPHA:52430
7415	VCP	HP:0002460	Distal muscle weakness	HP:0040281	ORPHA:329478
7415	VCP	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:435387
7415	VCP	HP:0002442	Dyscalculia	HP:0040281	ORPHA:275864
7415	VCP	HP:0002442	Dyscalculia	HP:0040282	ORPHA:275872
7415	VCP	HP:0002442	Dyscalculia	HP:0040283	ORPHA:52430
7415	VCP	HP:0002450	Abnormal motor neuron morphology	HP:0040283	ORPHA:52430
7415	VCP	HP:0002446	Astrocytosis	HP:0040283	ORPHA:275864
7415	VCP	HP:0002446	Astrocytosis	HP:0040283	ORPHA:100070
7415	VCP	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:435387
7415	VCP	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:275872
7415	VCP	HP:0007289	Limb fasciculations	HP:0040282	ORPHA:329475
7415	VCP	HP:0003749	Pelvic girdle muscle weakness	4/4	OMIM:167320
7415	VCP	HP:0002427	Expressive aphasia	HP:0040283	ORPHA:100070
7415	VCP	HP:0003731	Quadriceps muscle weakness	HP:0040283	ORPHA:435387
7415	VCP	HP:0003724	Shoulder girdle muscle atrophy	3/4	OMIM:167320
7415	VCP	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:275872
7415	VCP	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:52430
7415	VCP	HP:0003701	Proximal muscle weakness	-	ORPHA:329478
7415	VCP	HP:0003701	Proximal muscle weakness	4/4	OMIM:167320
7415	VCP	HP:0003701	Proximal muscle weakness	HP:0040283	ORPHA:435387
7415	VCP	HP:0003700	Generalized amyotrophy	1/1	OMIM:167320
7415	VCP	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:275872
7415	VCP	HP:0003700	Generalized amyotrophy	HP:0040283	ORPHA:52430
7415	VCP	HP:0001297	Stroke	-	ORPHA:100070
7415	VCP	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:52430
7415	VCP	HP:0001268	Mental deterioration	HP:0040281	ORPHA:275864
7415	VCP	HP:0001268	Mental deterioration	HP:0040281	ORPHA:100070
7415	VCP	HP:0001288	Gait disturbance	-	OMIM:167320
7415	VCP	HP:0001288	Gait disturbance	HP:0040282	ORPHA:435387
7415	VCP	HP:0001288	Gait disturbance	1/9	OMIM:613954
7415	VCP	HP:0001288	Gait disturbance	HP:0040283	ORPHA:275864
7415	VCP	HP:0001288	Gait disturbance	HP:0040282	ORPHA:329478
7415	VCP	HP:0001288	Gait disturbance	HP:0040280	ORPHA:329475
7415	VCP	HP:0001283	Bulbar palsy	HP:0040283	ORPHA:275872
7415	VCP	HP:0001249	Intellectual disability	HP:0040283	ORPHA:52430
7415	VCP	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:275872
7415	VCP	HP:0001260	Dysarthria	HP:0040283	ORPHA:435387
7415	VCP	HP:0001260	Dysarthria	-	OMIM:613954
7415	VCP	HP:0001260	Dysarthria	HP:0040282	ORPHA:275872
7415	VCP	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
7415	VCP	HP:0001258	Spastic paraplegia	HP:0040280	ORPHA:329475
7415	VCP	HP:0001257	Spasticity	-	OMIM:613954
7415	VCP	HP:0001257	Spasticity	HP:0040282	ORPHA:803
7415	VCP	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
7415	VCP	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:613954
7415	VCP	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
7415	VCP	HP:0007354	Amyotrophic lateral sclerosis	HP:0040283	ORPHA:52430
7415	VCP	HP:0007340	Lower limb muscle weakness	1/9	OMIM:613954
7415	VCP	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
7415	VCP	HP:0002515	Waddling gait	HP:0040281	ORPHA:52430
7415	VCP	HP:0002505	Loss of ambulation	2/4	OMIM:167320
7415	VCP	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:275864
7415	VCP	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:100070
7415	VCP	HP:0003805	Rimmed vacuoles	1/1	OMIM:167320
7415	VCP	HP:0003805	Rimmed vacuoles	HP:0040281	ORPHA:52430
7415	VCP	HP:0003805	Rimmed vacuoles	HP:0040282	ORPHA:329478
7415	VCP	HP:0003803	Type 1 muscle fiber predominance	1/1	OMIM:613954
7415	VCP	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
7415	VCP	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:52430
7415	VCP	HP:0002683	Abnormal calvaria morphology	HP:0040283	ORPHA:52430
7415	VCP	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:329478
7415	VCP	HP:0001349	Facial diplegia	HP:0040283	ORPHA:329478
7415	VCP	HP:0001348	Brisk reflexes	5/9	OMIM:613954
7415	VCP	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:275864
7415	VCP	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
7415	VCP	HP:0012083	Ubiquitin-positive cerebral inclusion bodies	HP:0040281	ORPHA:52430
7415	VCP	HP:0001332	Dystonia	-	OMIM:167320
7415	VCP	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:52430
7415	VCP	HP:0001324	Muscle weakness	9/9	OMIM:613954
7415	VCP	HP:0001337	Tremor	HP:0040283	ORPHA:329478
7415	VCP	HP:0000006	Autosomal dominant inheritance	-	OMIM:167320
7415	VCP	HP:0000006	Autosomal dominant inheritance	-	OMIM:613954
7415	VCP	HP:0000006	Autosomal dominant inheritance	-	OMIM:616687
7415	VCP	HP:0001308	Tongue fasciculations	HP:0040282	ORPHA:329475
7415	VCP	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
7415	VCP	HP:0002653	Bone pain	HP:0040281	ORPHA:329475
7415	VCP	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:435387
7415	VCP	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:167320
7415	VCP	HP:0001300	Parkinsonism	HP:0040282	ORPHA:275872
7415	VCP	HP:0001300	Parkinsonism	HP:0040283	ORPHA:329478
7415	VCP	HP:0001300	Parkinsonism	HP:0040283	ORPHA:100070
7415	VCP	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:329478
7415	VCP	HP:0002797	Osteolysis	HP:0040282	ORPHA:52430
7415	VCP	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
7415	VCP	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040283	ORPHA:435387
7415	VCP	HP:0008994	Proximal muscle weakness in lower limbs	1/5	OMIM:616687
7415	VCP	HP:0008994	Proximal muscle weakness in lower limbs	-	OMIM:613954
7415	VCP	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040283	ORPHA:435387
7415	VCP	HP:0008997	Proximal muscle weakness in upper limbs	0/5	OMIM:616687
7415	VCP	HP:0008997	Proximal muscle weakness in upper limbs	-	OMIM:613954
7415	VCP	HP:0008988	Pelvic girdle muscle atrophy	4/4	OMIM:167320
7415	VCP	HP:0008978	Necrotizing myopathy	HP:0040282	ORPHA:329478
7415	VCP	HP:0008959	Distal upper limb muscle weakness	HP:0040282	ORPHA:435387
7415	VCP	HP:0008959	Distal upper limb muscle weakness	4/5	OMIM:616687
7415	VCP	HP:0008946	Pelvic girdle amyotrophy	4/4	OMIM:167320
7415	VCP	HP:0008954	Intrinsic hand muscle atrophy	HP:0040282	ORPHA:329478
7415	VCP	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
7415	VCP	HP:0002792	Reduced vital capacity	HP:0040284	ORPHA:329478
7415	VCP	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:329475
7415	VCP	HP:0002756	Pathologic fracture	HP:0040284	ORPHA:52430
7415	VCP	HP:0001437	Abnormality of the musculature of the lower limbs	HP:0040282	ORPHA:329478
7415	VCP	HP:0003326	Myalgia	HP:0040282	ORPHA:329478
7415	VCP	HP:0002015	Dysphagia	-	OMIM:613954
7415	VCP	HP:0002015	Dysphagia	HP:0040282	ORPHA:275872
7415	VCP	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
7415	VCP	HP:0003307	Hyperlordosis	HP:0040281	ORPHA:52430
7415	VCP	HP:0003324	Generalized muscle weakness	HP:0040280	ORPHA:329475
7415	VCP	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
7415	VCP	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
7415	VCP	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
7415	VCP	HP:0002094	Dyspnea	HP:0040283	ORPHA:435387
7415	VCP	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:275864
7415	VCP	HP:0003394	Muscle spasm	HP:0040283	ORPHA:435387
7415	VCP	HP:0003394	Muscle spasm	HP:0040282	ORPHA:329478
7415	VCP	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
7415	VCP	HP:0002064	Spastic gait	HP:0040280	ORPHA:329475
7415	VCP	HP:0002061	Lower limb spasticity	1/9	OMIM:613954
7415	VCP	HP:0003390	Sensory axonal neuropathy	HP:0040283	ORPHA:52430
7415	VCP	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:275872
7415	VCP	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:275872
7415	VCP	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:275864
7415	VCP	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:100070
7415	VCP	HP:0003376	Steppage gait	HP:0040283	ORPHA:435387
7415	VCP	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
7415	VCP	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:329478
7415	VCP	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:435387
7415	VCP	HP:0002145	Frontotemporal dementia	-	OMIM:167320
7415	VCP	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:275872
7415	VCP	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
7415	VCP	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:275864
7415	VCP	HP:0002145	Frontotemporal dementia	HP:0040282	ORPHA:52430
7415	VCP	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:100070
7415	VCP	HP:0002141	Gait imbalance	HP:0040282	ORPHA:435387
7415	VCP	HP:0003470	Paralysis	HP:0040282	ORPHA:803
7415	VCP	HP:0003487	Babinski sign	3/9	OMIM:613954
7415	VCP	HP:0003487	Babinski sign	HP:0040283	ORPHA:275872
7415	VCP	HP:0003487	Babinski sign	HP:0040280	ORPHA:329475
7415	VCP	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
7415	VCP	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
7415	VCP	HP:0002136	Broad-based gait	HP:0040283	ORPHA:435387
7415	VCP	HP:0002127	Abnormal upper motor neuron morphology	HP:0040281	ORPHA:275872
7415	VCP	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:52430
7415	VCP	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:329478
7415	VCP	HP:0003431	Decreased motor nerve conduction velocity	5/5	OMIM:616687
7415	VCP	HP:0003444	EMG: chronic denervation signs	4/4	OMIM:613954
7415	VCP	HP:0003444	EMG: chronic denervation signs	HP:0040283	ORPHA:52430
7415	VCP	HP:0003445	EMG: neuropathic changes	HP:0040280	ORPHA:329475
7415	VCP	HP:0003445	EMG: neuropathic changes	HP:0040283	ORPHA:52430
7415	VCP	HP:0003438	Absent Achilles reflex	HP:0040282	ORPHA:435387
7415	VCP	HP:0003438	Absent Achilles reflex	5/5	OMIM:616687
7415	VCP	HP:0003418	Back pain	4/4	OMIM:167320
7415	VCP	HP:0003418	Back pain	HP:0040283	ORPHA:329478
7415	VCP	HP:0002186	Apraxia	HP:0040282	ORPHA:275872
7415	VCP	HP:0002186	Apraxia	HP:0040282	ORPHA:100070
7415	VCP	HP:0002185	Neurofibrillary tangles	-	ORPHA:100070
7415	VCP	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
7415	VCP	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:435387
7415	VCP	HP:0002171	Gliosis	HP:0040282	ORPHA:275872
7415	VCP	HP:0010549	Weakness due to upper motor neuron dysfunction	HP:0040282	ORPHA:275872
7415	VCP	HP:0010529	Echolalia	HP:0040281	ORPHA:275864
7415	VCP	HP:0010522	Dyslexia	HP:0040281	ORPHA:275864
7415	VCP	HP:0010526	Dysgraphia	HP:0040281	ORPHA:275864
7415	VCP	HP:0010526	Dysgraphia	HP:0040283	ORPHA:100070
7415	VCP	HP:0010523	Alexia	HP:0040282	ORPHA:100070
7415	VCP	HP:0011842	Abnormal skeletal morphology	HP:0040281	ORPHA:329475
7415	VCP	HP:0003401	Paresthesia	HP:0040283	ORPHA:435387
7415	VCP	HP:0003596	Middle age onset	3/5	OMIM:616687
7415	VCP	HP:0003596	Middle age onset	4/5	OMIM:167320
7415	VCP	HP:0003596	Middle age onset	-	OMIM:613954
7415	VCP	HP:0002273	Tetraparesis	1/1	OMIM:167320
7415	VCP	HP:0002273	Tetraparesis	HP:0040282	ORPHA:275872
7415	VCP	HP:0002273	Tetraparesis	-	OMIM:613954
7415	VCP	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:435387
7415	VCP	HP:0003551	Difficulty climbing stairs	-	OMIM:167320
7415	VCP	HP:0003547	Shoulder girdle muscle weakness	3/4	OMIM:167320
7415	VCP	HP:0003557	Increased variability in muscle fiber diameter	HP:0040281	ORPHA:52430
7415	VCP	HP:0003557	Increased variability in muscle fiber diameter	1/9	OMIM:613954
7415	VCP	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:275872
7415	VCP	HP:0007010	Poor fine motor coordination	HP:0040282	ORPHA:435387
7415	VCP	HP:0007002	Motor axonal neuropathy	HP:0040283	ORPHA:52430
7415	VCP	HP:0010639	Elevated alkaline phosphatase of bone origin	-	OMIM:167320
7415	VCP	HP:0008322	Abnormal mitochondrial morphology	HP:0040283	ORPHA:275872
7415	VCP	HP:0010628	Facial palsy	HP:0040283	OMIM:167320
7415	VCP	HP:0002385	Paraparesis	HP:0040282	ORPHA:275872
7415	VCP	HP:0002380	Fasciculations	HP:0040283	ORPHA:275872
7415	VCP	HP:0002380	Fasciculations	HP:0040283	ORPHA:52430
7415	VCP	HP:0002380	Fasciculations	HP:0040282	ORPHA:329478
7415	VCP	HP:0002380	Fasciculations	4/4	OMIM:613954
7415	VCP	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
7415	VCP	HP:0002380	Fasciculations	HP:0040283	ORPHA:275864
7415	VCP	HP:0002381	Aphasia	11/11	OMIM:167320
7415	VCP	HP:0002381	Aphasia	HP:0040283	ORPHA:52430
7415	VCP	HP:0002381	Aphasia	HP:0040281	ORPHA:275864
7415	VCP	HP:0002381	Aphasia	HP:0040281	ORPHA:100070
7415	VCP	HP:0002395	Lower limb hyperreflexia	HP:0040280	ORPHA:329475
7415	VCP	HP:0002366	Abnormal lower motor neuron morphology	-	OMIM:613954
7415	VCP	HP:0002366	Abnormal lower motor neuron morphology	HP:0040281	ORPHA:275872
7415	VCP	HP:0002366	Abnormal lower motor neuron morphology	HP:0040283	ORPHA:100070
7415	VCP	HP:0003693	Distal amyotrophy	-	OMIM:167320
7415	VCP	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:435387
7415	VCP	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
7415	VCP	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
7415	VCP	HP:0003691	Scapular winging	-	OMIM:167320
7415	VCP	HP:0003691	Scapular winging	HP:0040283	ORPHA:435387
7415	VCP	HP:0003691	Scapular winging	HP:0040282	ORPHA:329478
7415	VCP	HP:0003690	Limb muscle weakness	-	OMIM:167320
7415	VCP	HP:0003690	Limb muscle weakness	1/9	OMIM:613954
7415	VCP	HP:0002359	Frequent falls	HP:0040283	ORPHA:435387
7415	VCP	HP:0002359	Frequent falls	HP:0040282	ORPHA:329478
7415	VCP	HP:0002371	Loss of speech	HP:0040281	ORPHA:275864
7415	VCP	HP:0002344	Progressive neurologic deterioration	HP:0040282	ORPHA:329478
7415	VCP	HP:0003676	Progressive	-	OMIM:616687
7415	VCP	HP:0002354	Memory impairment	HP:0040283	ORPHA:435387
7415	VCP	HP:0002354	Memory impairment	HP:0040281	ORPHA:275864
7415	VCP	HP:0002354	Memory impairment	HP:0040281	ORPHA:100070
7415	VCP	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
7415	VCP	HP:0002314	Degeneration of the lateral corticospinal tracts	HP:0040282	ORPHA:275872
7415	VCP	HP:0010830	Impaired tactile sensation	HP:0040282	ORPHA:435387
7415	VCP	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:435387
7415	VCP	HP:0007112	Temporal cortical atrophy	-	OMIM:167320
7415	VCP	HP:0007112	Temporal cortical atrophy	HP:0040281	ORPHA:100070
7415	VCP	HP:0002300	Mutism	HP:0040283	ORPHA:275872
7415	VCP	HP:0002300	Mutism	HP:0040283	ORPHA:52430
7415	VCP	HP:0002300	Mutism	HP:0040283	ORPHA:275864
7415	VCP	HP:0002300	Mutism	HP:0040283	ORPHA:100070
7415	VCP	HP:0002307	Drooling	HP:0040282	ORPHA:803
7415	VCP	HP:0007190	Neuronal loss in the cerebral cortex	HP:0040282	ORPHA:275872
7415	VCP	HP:0009073	Progressive proximal muscle weakness	1/1	OMIM:167320
7415	VCP	HP:0006892	Frontotemporal cerebral atrophy	HP:0040281	ORPHA:275864
7415	VCP	HP:0006892	Frontotemporal cerebral atrophy	HP:0040281	ORPHA:100070
7415	VCP	HP:0006886	Impaired distal vibration sensation	HP:0040283	ORPHA:435387
7415	VCP	HP:0006886	Impaired distal vibration sensation	5/5	OMIM:616687
7415	VCP	HP:0000605	Supranuclear gaze palsy	HP:0040283	ORPHA:275872
7415	VCP	HP:0009053	Distal lower limb muscle weakness	4/5	OMIM:616687
7415	VCP	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:435387
7415	VCP	HP:0009046	Difficulty running	HP:0040282	ORPHA:435387
7415	VCP	HP:0012671	Abulia	HP:0040283	ORPHA:275864
7415	VCP	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:435387
7415	VCP	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:329478
7415	VCP	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
7415	VCP	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:275864
7415	VCP	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:100070
7415	VCP	HP:0011314	Abnormal long bone morphology	HP:0040283	ORPHA:52430
7415	VCP	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040282	ORPHA:329478
7415	VCP	HP:0009005	Weakness of the intrinsic hand muscles	4/5	OMIM:616687
7415	VCP	HP:0004322	Short stature	HP:0040282	ORPHA:52430
7415	VCP	HP:0006977	Deficit in grammar	HP:0040281	ORPHA:100070
7415	VCP	HP:0004326	Cachexia	HP:0040283	ORPHA:803
7415	VCP	HP:0006944	Abolished vibration sense	HP:0040283	ORPHA:435387
7415	VCP	HP:0006937	Impaired distal tactile sensation	5/5	OMIM:616687
7415	VCP	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
7415	VCP	HP:0006913	Frontal cortical atrophy	-	OMIM:167320
7415	VCP	HP:0030692	Brain neoplasm	-	ORPHA:100070
7415	VCP	HP:0034159	Paget disease of bone	4/5	OMIM:167320
7415	VCP	HP:0004347	Weakness of muscles of respiration	HP:0040283	ORPHA:52430
7415	VCP	HP:0000757	Lack of insight	HP:0040281	ORPHA:275864
7415	VCP	HP:0000751	Personality changes	1/9	OMIM:613954
7415	VCP	HP:0000751	Personality changes	HP:0040281	ORPHA:275864
7415	VCP	HP:0000751	Personality changes	HP:0040283	ORPHA:100070
7415	VCP	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:435387
7415	VCP	HP:0000762	Decreased nerve conduction velocity	HP:0040283	ORPHA:329478
7415	VCP	HP:0000738	Hallucinations	HP:0040282	ORPHA:275872
7415	VCP	HP:0000737	Irritability	HP:0040281	ORPHA:275864
7415	VCP	HP:0000739	Anxiety	HP:0040283	ORPHA:329478
7415	VCP	HP:0000739	Anxiety	HP:0040282	ORPHA:803
7415	VCP	HP:0000739	Anxiety	HP:0040282	ORPHA:100070
7415	VCP	HP:0000734	Disinhibition	HP:0040283	ORPHA:275872
7415	VCP	HP:0000734	Disinhibition	HP:0040281	ORPHA:275864
7415	VCP	HP:0000733	Motor stereotypy	HP:0040281	ORPHA:275864
7415	VCP	HP:0000741	Apathy	HP:0040282	ORPHA:275872
7415	VCP	HP:0000741	Apathy	HP:0040283	ORPHA:275864
7415	VCP	HP:0000719	Inappropriate behavior	HP:0040281	ORPHA:275864
7415	VCP	HP:0000716	Depression	HP:0040282	ORPHA:275872
7415	VCP	HP:0000716	Depression	HP:0040283	ORPHA:329478
7415	VCP	HP:0000716	Depression	HP:0040282	ORPHA:803
7415	VCP	HP:0000716	Depression	HP:0040282	ORPHA:100070
7415	VCP	HP:0000716	Depression	-	OMIM:613954
7415	VCP	HP:0000718	Aggressive behavior	HP:0040281	ORPHA:275864
7415	VCP	HP:0000712	Emotional lability	HP:0040283	ORPHA:435387
7415	VCP	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
7415	VCP	HP:0000711	Restlessness	HP:0040281	ORPHA:275864
7415	VCP	HP:0000711	Restlessness	HP:0040283	ORPHA:100070
7415	VCP	HP:0000710	Hyperorality	HP:0040281	ORPHA:275864
7415	VCP	HP:0000726	Dementia	HP:0040282	ORPHA:329478
7415	VCP	HP:0000726	Dementia	1/5	OMIM:167320
7415	VCP	HP:0000723	Restrictive behavior	HP:0040281	ORPHA:275864
7415	VCP	HP:0000709	Psychosis	HP:0040283	ORPHA:275864
7415	VCP	HP:0000708	Atypical behavior	HP:0040282	ORPHA:275872
7415	VCP	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
7415	VCP	HP:0000708	Atypical behavior	HP:0040283	ORPHA:100070
7415	VCP	HP:0000708	Atypical behavior	HP:0040283	ORPHA:435387
7415	VCP	HP:0000708	Atypical behavior	HP:0040281	ORPHA:275864
7415	VCP	HP:0011463	Childhood onset	1/5	OMIM:616687
7415	VCP	HP:0011462	Young adult onset	1/5	OMIM:616687
7415	VCP	HP:0011448	Ankle clonus	1/9	OMIM:613954
7415	VCP	HP:0009130	Hand muscle atrophy	HP:0040282	ORPHA:435387
7415	VCP	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
7415	VCP	HP:0003198	Myopathy	-	OMIM:167320
7415	VCP	HP:0000925	Abnormality of the vertebral column	HP:0040282	ORPHA:52430
7415	VCP	HP:0100315	Lewy bodies	-	ORPHA:100070
7415	VCP	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:52430
7415	VCP	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040280	ORPHA:329475
7415	VCP	HP:0004490	Calvarial hyperostosis	HP:0040283	ORPHA:52430
7415	VCP	HP:0003236	Elevated circulating creatine kinase concentration	0/5	OMIM:616687
7415	VCP	HP:0003236	Elevated circulating creatine kinase concentration	1/3	OMIM:167320
7415	VCP	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:435387
7415	VCP	HP:0003236	Elevated circulating creatine kinase concentration	2/9	OMIM:613954
7415	VCP	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:52430
7415	VCP	HP:0004563	Increased spinal bone density	HP:0040281	ORPHA:329475
7415	VCP	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
7415	VCP	HP:0003202	Skeletal muscle atrophy	-	OMIM:613954
7415	VCP	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
7415	VCP	HP:0030838	Hip pain	-	OMIM:167320
7415	VCP	HP:0030838	Hip pain	HP:0040282	ORPHA:52430
7415	VCP	HP:0100256	Senile plaques	HP:0040283	ORPHA:100070
7415	VCP	HP:0002829	Arthralgia	HP:0040281	ORPHA:329475
7415	VCP	HP:0006389	Limited knee flexion	HP:0040283	ORPHA:435387
7415	VCP	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
7415	VCP	HP:0002878	Respiratory failure	-	OMIM:613954
7415	VCP	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
7415	VCP	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040283	ORPHA:52430
7415	VCP	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:435387
7415	VCP	HP:0012378	Fatigue	HP:0040282	ORPHA:803
7415	VCP	HP:0002938	Lumbar hyperlordosis	-	OMIM:167320
7415	VCP	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:435387
7415	VCP	HP:0002936	Distal sensory impairment	HP:0040282	ORPHA:435387
7415	VCP	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
7415	VCP	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
7415	VCP	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
7415	VCP	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
7415	VCP	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:52430
7415	VCP	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:52430
7415	VCP	HP:0001638	Cardiomyopathy	-	ORPHA:329478
7415	VCP	HP:0030213	Emotional dearth	HP:0040281	ORPHA:275864
7415	VCP	HP:0030212	Collectionism	HP:0040282	ORPHA:275864
7415	VCP	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
7415	VCP	HP:0030223	Perseverative thought	HP:0040281	ORPHA:275864
7415	VCP	HP:0030223	Perseverative thought	HP:0040283	ORPHA:275872
7415	VCP	HP:0030223	Perseverative thought	HP:0040283	ORPHA:100070
7415	VCP	HP:0012444	Brain atrophy	1/1	OMIM:167320
7415	VCP	HP:0012444	Brain atrophy	HP:0040282	ORPHA:52430
7415	VCP	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:275864
7415	VCP	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:100070
7415	VCP	HP:0001765	Hammertoe	HP:0040283	ORPHA:435387
7415	VCP	HP:0001765	Hammertoe	4/5	OMIM:616687
7415	VCP	HP:0025710	Late young adult onset	1/4	OMIM:167320
7415	VCP	HP:0001761	Pes cavus	4/5	OMIM:616687
7415	VCP	HP:0001761	Pes cavus	HP:0040282	ORPHA:435387
7415	VCP	HP:0000518	Cataract	HP:0040283	ORPHA:52430
7415	VCP	HP:0001824	Weight loss	HP:0040282	ORPHA:803
7415	VCP	HP:0000508	Ptosis	HP:0040284	ORPHA:275872
7415	VCP	HP:0012548	Fatty replacement of skeletal muscle	HP:0040282	ORPHA:329478
7415	VCP	HP:0012548	Fatty replacement of skeletal muscle	HP:0040283	ORPHA:52430
7415	VCP	HP:0011204	EEG with continuous slow activity	HP:0040282	ORPHA:275864
7415	VCP	HP:0011204	EEG with continuous slow activity	HP:0040282	ORPHA:100070
7415	VCP	HP:0030391	Spoken word recognition deficit	HP:0040281	ORPHA:100070
7415	VCP	HP:0012531	Pain	HP:0040282	ORPHA:803
7421	VDR	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7421	VDR	HP:0001293	Cranial nerve compression	-	OMIM:131300
7421	VDR	HP:0001290	Generalized hypotonia	-	OMIM:277440
7421	VDR	HP:0001270	Motor delay	-	OMIM:277440
7421	VDR	HP:0001288	Gait disturbance	HP:0040282	ORPHA:93160
7421	VDR	HP:0001288	Gait disturbance	-	OMIM:277440
7421	VDR	HP:0001252	Hypotonia	2/7	OMIM:615777
7421	VDR	HP:0001252	Hypotonia	-	OMIM:277440
7421	VDR	HP:0001249	Intellectual disability	5/7	OMIM:615777
7421	VDR	HP:0001263	Global developmental delay	-	OMIM:615777
7421	VDR	HP:0002515	Waddling gait	54/102	OMIM:131300
7421	VDR	HP:0012062	Bone cyst	HP:0040281	ORPHA:93160
7421	VDR	HP:0001373	Joint dislocation	HP:0040281	ORPHA:93160
7421	VDR	HP:0001382	Joint hypermobility	-	OMIM:615777
7421	VDR	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7421	VDR	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7421	VDR	HP:0002663	Delayed epiphyseal ossification	-	OMIM:277440
7421	VDR	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7421	VDR	HP:0001324	Muscle weakness	40/96	OMIM:131300
7421	VDR	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7421	VDR	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7421	VDR	HP:0000007	Autosomal recessive inheritance	-	OMIM:277440
7421	VDR	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7421	VDR	HP:0002653	Bone pain	HP:0040281	ORPHA:93160
7421	VDR	HP:0002653	Bone pain	-	OMIM:277440
7421	VDR	HP:0002650	Scoliosis	HP:0040283	ORPHA:93160
7421	VDR	HP:0002650	Scoliosis	12/14	OMIM:131300
7421	VDR	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7421	VDR	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7421	VDR	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7421	VDR	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7421	VDR	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:93160
7421	VDR	HP:0000175	Cleft palate	2/7	OMIM:615777
7421	VDR	HP:0002797	Osteolysis	HP:0040281	ORPHA:93160
7421	VDR	HP:0006323	Premature loss of primary teeth	HP:0040282	ORPHA:93160
7421	VDR	HP:0006297	Enamel hypoplasia	-	OMIM:277440
7421	VDR	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:93160
7421	VDR	HP:0002757	Recurrent fractures	-	OMIM:277440
7421	VDR	HP:0002753	Thin bony cortex	-	OMIM:277440
7421	VDR	HP:0002752	Sparse bone trabeculae	-	OMIM:277440
7421	VDR	HP:0002748	Rickets	1/1	OMIM:277440
7421	VDR	HP:0002749	Osteomalacia	HP:0040281	ORPHA:93160
7421	VDR	HP:0003330	Abnormal bone structure	HP:0040281	ORPHA:93160
7421	VDR	HP:0002007	Frontal bossing	HP:0040283	ORPHA:93160
7421	VDR	HP:0002007	Frontal bossing	1/1	OMIM:277440
7421	VDR	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:93160
7421	VDR	HP:0003388	Easy fatigability	36/76	OMIM:131300
7421	VDR	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7421	VDR	HP:0002148	Hypophosphatemia	HP:0040281	ORPHA:93160
7421	VDR	HP:0002148	Hypophosphatemia	-	OMIM:277440
7421	VDR	HP:0002199	Hypocalcemic seizures	-	OMIM:277440
7421	VDR	HP:0010502	Fibular bowing	-	OMIM:277440
7421	VDR	HP:0003593	Infantile onset	-	OMIM:277440
7421	VDR	HP:0002289	Alopecia universalis	1/1	OMIM:277440
7421	VDR	HP:0003510	Severe short stature	7/7	OMIM:615777
7421	VDR	HP:0003698	Difficulty standing	-	OMIM:277440
7421	VDR	HP:0002315	Headache	-	OMIM:131300
7421	VDR	HP:0004976	Knee dislocation	6/7	OMIM:615777
7421	VDR	HP:0100670	Coarse metaphyseal trabecularization	HP:0040281	ORPHA:93160
7421	VDR	HP:0009803	Short phalanx of finger	-	OMIM:615777
7421	VDR	HP:0009763	Limb pain	63/92	OMIM:131300
7421	VDR	HP:0003623	Neonatal onset	1/1	OMIM:277440
7421	VDR	HP:0003621	Juvenile onset	-	OMIM:131300
7421	VDR	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7421	VDR	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7421	VDR	HP:6001056	Out-toeing	-	OMIM:131300
7421	VDR	HP:0000651	Diplopia	-	OMIM:131300
7421	VDR	HP:0001956	Truncal obesity	2/7	OMIM:615777
7421	VDR	HP:0001903	Anemia	HP:0040283	OMIM:131300
7421	VDR	HP:0010049	Short metacarpal	-	OMIM:615777
7421	VDR	HP:0000684	Delayed eruption of teeth	-	OMIM:277440
7421	VDR	HP:0009023	Abdominal wall muscle weakness	-	OMIM:277440
7421	VDR	HP:0000678	Dental crowding	-	OMIM:615777
7421	VDR	HP:0000670	Carious teeth	-	OMIM:131300
7421	VDR	HP:0000670	Carious teeth	-	OMIM:277440
7421	VDR	HP:0011304	Broad thumb	2/7	OMIM:615777
7421	VDR	HP:0000668	Hypodontia	-	OMIM:615777
7421	VDR	HP:0000664	Synophrys	-	OMIM:615777
7421	VDR	HP:0004322	Short stature	HP:0040282	ORPHA:93160
7421	VDR	HP:0004396	Poor appetite	-	OMIM:131300
7421	VDR	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7421	VDR	HP:0003029	Enlargement of the ankles	-	OMIM:277440
7421	VDR	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7421	VDR	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7421	VDR	HP:0003013	Bulging epiphyses	-	OMIM:277440
7421	VDR	HP:0003026	Short long bone	7/7	OMIM:615777
7421	VDR	HP:0003025	Metaphyseal irregularity	-	OMIM:277440
7421	VDR	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7421	VDR	HP:0003020	Enlargement of the wrists	-	OMIM:277440
7421	VDR	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7421	VDR	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7421	VDR	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:93160
7421	VDR	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7421	VDR	HP:0000737	Irritability	-	OMIM:277440
7421	VDR	HP:0000750	Delayed speech and language development	-	OMIM:615777
7421	VDR	HP:0011461	Fetal onset	7/7	OMIM:615777
7421	VDR	HP:0009124	Abnormal adipose tissue morphology	HP:0040282	ORPHA:93160
7421	VDR	HP:0000774	Narrow chest	2/7	OMIM:615777
7421	VDR	HP:0000787	Nephrolithiasis	HP:0040282	ORPHA:93160
7421	VDR	HP:0003106	Subperiosteal bone resorption	-	OMIM:277440
7421	VDR	HP:0000926	Platyspondyly	1/7	OMIM:615777
7421	VDR	HP:0003180	Flat acetabular roof	-	OMIM:615777
7421	VDR	HP:0003155	Elevated circulating alkaline phosphatase concentration	-	OMIM:277440
7421	VDR	HP:0004482	Relative macrocephaly	-	OMIM:615777
7421	VDR	HP:0003165	Elevated circulating parathyroid hormone level	-	OMIM:277440
7421	VDR	HP:0004492	Widely patent fontanelles and sutures	-	OMIM:277440
7421	VDR	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7421	VDR	HP:0000893	Bulging of the costochondral junction	-	OMIM:277440
7421	VDR	HP:0000886	Deformed rib cage	-	OMIM:277440
7421	VDR	HP:0000867	Secondary hyperparathyroidism	-	OMIM:277440
7421	VDR	HP:0000843	Hyperparathyroidism	HP:0040281	ORPHA:93160
7421	VDR	HP:0000823	Delayed puberty	-	OMIM:131300
7421	VDR	HP:0000894	Short clavicles	-	OMIM:615777
7421	VDR	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7421	VDR	HP:0003272	Abnormal hip bone morphology	HP:0040282	ORPHA:93160
7421	VDR	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7421	VDR	HP:0000951	Abnormality of the skin	HP:0040282	ORPHA:93160
7421	VDR	HP:0000951	Abnormality of the skin	-	OMIM:277440
7421	VDR	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:93160
7421	VDR	HP:0000286	Epicanthus	1/7	OMIM:615777
7421	VDR	HP:0000286	Epicanthus	1/1	OMIM:277440
7421	VDR	HP:0000280	Coarse facial features	2/7	OMIM:615777
7421	VDR	HP:0001596	Alopecia	HP:0040282	ORPHA:93160
7421	VDR	HP:0031415	High serum calcitriol	-	OMIM:277440
7421	VDR	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:93160
7421	VDR	HP:0002827	Hip dislocation	3/7	OMIM:615777
7421	VDR	HP:0000252	Microcephaly	-	OMIM:615777
7421	VDR	HP:0002857	Genu valgum	HP:0040283	ORPHA:93160
7421	VDR	HP:0002857	Genu valgum	-	OMIM:131300
7421	VDR	HP:0001538	Protuberant abdomen	-	OMIM:277440
7421	VDR	HP:0001533	Slender build	-	OMIM:131300
7421	VDR	HP:0001508	Failure to thrive	-	OMIM:277440
7421	VDR	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7421	VDR	HP:0001510	Growth delay	-	OMIM:277440
7421	VDR	HP:0007807	Optic nerve compression	-	OMIM:131300
7421	VDR	HP:0012368	Flat face	7/7	OMIM:615777
7421	VDR	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7421	VDR	HP:0002901	Hypocalcemia	HP:0040281	ORPHA:93160
7421	VDR	HP:0000365	Hearing impairment	10/67	OMIM:131300
7421	VDR	HP:0000365	Hearing impairment	1/1	OMIM:277440
7421	VDR	HP:0000343	Long philtrum	1/7	OMIM:615777
7421	VDR	HP:0011001	Increased bone mineral density	-	OMIM:131300
7421	VDR	HP:0002982	Tibial bowing	-	OMIM:277440
7421	VDR	HP:0002980	Femoral bowing	-	OMIM:277440
7421	VDR	HP:0002979	Bowing of the legs	-	OMIM:277440
7421	VDR	HP:0000311	Round face	2/7	OMIM:615777
7421	VDR	HP:0002970	Genu varum	HP:0040282	ORPHA:93160
7421	VDR	HP:0002970	Genu varum	-	OMIM:615777
7421	VDR	HP:0000303	Mandibular prognathia	-	OMIM:131300
7421	VDR	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7421	VDR	HP:0000470	Short neck	1/7	OMIM:615777
7421	VDR	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7421	VDR	HP:0001763	Pes planus	1/7	OMIM:615777
7421	VDR	HP:0000431	Wide nasal bridge	1/1	OMIM:277440
7421	VDR	HP:0005469	Flat occiput	-	OMIM:277440
7421	VDR	HP:0001840	Metatarsus adductus	-	OMIM:615777
7421	VDR	HP:0000520	Proptosis	2/4	OMIM:131300
7421	VDR	HP:0000520	Proptosis	7/7	OMIM:615777
7421	VDR	HP:0000592	Blue sclerae	2/7	OMIM:615777
7421	VDR	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7421	VDR	HP:0012514	Lower limb pain	4/4	OMIM:131300
7424	VEGFC	HP:0000034	Hydrocele testis	1/3	OMIM:615907
7424	VEGFC	HP:0000006	Autosomal dominant inheritance	-	OMIM:615907
7424	VEGFC	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
7424	VEGFC	HP:0002619	Varicose veins	-	OMIM:153400
7424	VEGFC	HP:0000175	Cleft palate	5/39	OMIM:153400
7424	VEGFC	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
7424	VEGFC	HP:0009743	Distichiasis	42/42	OMIM:153400
7424	VEGFC	HP:0100797	Toenail dysplasia	-	OMIM:615907
7424	VEGFC	HP:0001004	Lymphedema	-	OMIM:153400
7424	VEGFC	HP:0001004	Lymphedema	7/7	OMIM:615907
7424	VEGFC	HP:0001015	Prominent superficial veins	4/7	OMIM:615907
7424	VEGFC	HP:0100658	Cellulitis	2/6	OMIM:153400
7424	VEGFC	HP:0100658	Cellulitis	1/7	OMIM:615907
7424	VEGFC	HP:0010741	Pedal edema	4/7	OMIM:615907
7424	VEGFC	HP:0000613	Photophobia	10/49	OMIM:153400
7424	VEGFC	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
7424	VEGFC	HP:0000656	Ectropion	2/43	OMIM:153400
7424	VEGFC	HP:0003011	Abnormality of the musculature	-	OMIM:153400
7424	VEGFC	HP:0011463	Childhood onset	3/3	OMIM:615907
7424	VEGFC	HP:0012804	Corneal ulceration	-	OMIM:153400
7424	VEGFC	HP:0010310	Chylothorax	1/6	OMIM:153400
7424	VEGFC	HP:0000962	Hyperkeratosis	1/1	OMIM:615907
7424	VEGFC	HP:0011675	Arrhythmia	-	OMIM:153400
7424	VEGFC	HP:0002808	Kyphosis	2/5	OMIM:153400
7424	VEGFC	HP:0000204	Cleft upper lip	-	OMIM:153400
7424	VEGFC	HP:0000347	Micrognathia	2/5	OMIM:153400
7424	VEGFC	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
7424	VEGFC	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
7424	VEGFC	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
7424	VEGFC	HP:0000476	Cystic hygroma	2/43	OMIM:153400
7424	VEGFC	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
7424	VEGFC	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
7424	VEGFC	HP:0000465	Webbed neck	6/43	OMIM:153400
7424	VEGFC	HP:0000509	Conjunctivitis	-	OMIM:153400
7424	VEGFC	HP:0000508	Ptosis	2/39	OMIM:153400
7424	VEGFC	HP:0000568	Microphthalmia	1/6	OMIM:153400
7428	VHL	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:29072
7428	VHL	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:276621
7428	VHL	HP:0003745	Sporadic	-	OMIM:144700
7428	VHL	HP:0001297	Stroke	-	OMIM:263400
7428	VHL	HP:0001297	Stroke	HP:0040283	ORPHA:892
7428	VHL	HP:0025269	Panic attack	HP:0040283	ORPHA:29072
7428	VHL	HP:0025269	Panic attack	HP:0040283	ORPHA:276621
7428	VHL	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:29072
7428	VHL	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:276621
7428	VHL	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:29072
7428	VHL	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:276621
7428	VHL	HP:0002516	Increased intracranial pressure	HP:0040284	ORPHA:892
7428	VHL	HP:0033644	Elevated circulating erythropoietin concentration	7/9	OMIM:263400
7428	VHL	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:29072
7428	VHL	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:276621
7428	VHL	HP:0000093	Proteinuria	-	OMIM:171300
7428	VHL	HP:0000093	Proteinuria	HP:0040282	ORPHA:276621
7428	VHL	HP:0000093	Proteinuria	HP:0040282	ORPHA:29072
7428	VHL	HP:0002664	Neoplasm	-	OMIM:171300
7428	VHL	HP:0001342	Cerebral hemorrhage	-	OMIM:263400
7428	VHL	HP:0001342	Cerebral hemorrhage	-	OMIM:171300
7428	VHL	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:29072
7428	VHL	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:276621
7428	VHL	HP:0000007	Autosomal recessive inheritance	-	OMIM:263400
7428	VHL	HP:0002668	Paraganglioma	HP:0040284	ORPHA:892
7428	VHL	HP:0002668	Paraganglioma	HP:0040281	ORPHA:29072
7428	VHL	HP:0002668	Paraganglioma	-	OMIM:193300
7428	VHL	HP:0002668	Paraganglioma	HP:0040281	ORPHA:276621
7428	VHL	HP:0001337	Tremor	HP:0040283	ORPHA:29072
7428	VHL	HP:0001337	Tremor	HP:0040283	ORPHA:276621
7428	VHL	HP:0000006	Autosomal dominant inheritance	-	OMIM:193300
7428	VHL	HP:0000006	Autosomal dominant inheritance	-	OMIM:171300
7428	VHL	HP:0002666	Pheochromocytoma	-	OMIM:171300
7428	VHL	HP:0002666	Pheochromocytoma	-	OMIM:193300
7428	VHL	HP:0002641	Peripheral thrombosis	-	OMIM:263400
7428	VHL	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:29072
7428	VHL	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:276621
7428	VHL	HP:0002619	Varicose veins	-	OMIM:263400
7428	VHL	HP:0002615	Hypotension	-	OMIM:263400
7428	VHL	HP:0031284	Flushing	HP:0040282	ORPHA:29072
7428	VHL	HP:0031284	Flushing	HP:0040282	ORPHA:276621
7428	VHL	HP:0031207	Hepatic hemangioma	-	OMIM:193300
7428	VHL	HP:0002018	Nausea	HP:0040282	ORPHA:276621
7428	VHL	HP:0002018	Nausea	HP:0040282	ORPHA:29072
7428	VHL	HP:0002027	Abdominal pain	HP:0040283	ORPHA:892
7428	VHL	HP:0003334	Elevated circulating catecholamine level	HP:0040283	ORPHA:892
7428	VHL	HP:0003345	Elevated urinary norepinephrine level	-	OMIM:171300
7428	VHL	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:29072
7428	VHL	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:276621
7428	VHL	HP:0005954	Pulmonary capillary hemangiomatosis	-	OMIM:193300
7428	VHL	HP:0002092	Pulmonary arterial hypertension	1/1	OMIM:263400
7428	VHL	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:29072
7428	VHL	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:276621
7428	VHL	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:892
7428	VHL	HP:0003418	Back pain	HP:0040283	ORPHA:892
7428	VHL	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:29072
7428	VHL	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:276621
7428	VHL	HP:0008261	Pancreatic islet cell adenoma	HP:0040283	ORPHA:892
7428	VHL	HP:0003593	Infantile onset	1/1	OMIM:263400
7428	VHL	HP:0003574	Positive regitine blocking test	-	OMIM:171300
7428	VHL	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:29072
7428	VHL	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:276621
7428	VHL	HP:0003528	Elevated circulating calcitonin concentration	HP:0040283	ORPHA:29072
7428	VHL	HP:0009711	Retinal capillary hemangioma	HP:0040282	ORPHA:892
7428	VHL	HP:0009711	Retinal capillary hemangioma	HP:0040283	ORPHA:29072
7428	VHL	HP:0009711	Retinal capillary hemangioma	-	OMIM:193300
7428	VHL	HP:0009713	Spinal hemangioblastoma	-	OMIM:193300
7428	VHL	HP:0009715	Papillary cystadenoma of the epididymis	HP:0040283	ORPHA:892
7428	VHL	HP:0009715	Papillary cystadenoma of the epididymis	-	OMIM:193300
7428	VHL	HP:0100749	Chest pain	HP:0040282	ORPHA:276621
7428	VHL	HP:0100749	Chest pain	HP:0040282	ORPHA:29072
7428	VHL	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:29072
7428	VHL	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:276621
7428	VHL	HP:0011976	Elevated urinary catecholamine level	HP:0040282	ORPHA:892
7428	VHL	HP:0001050	Plethora	-	OMIM:263400
7428	VHL	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:29072
7428	VHL	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:276621
7428	VHL	HP:0001028	Hemangioma	-	OMIM:263400
7428	VHL	HP:0001028	Hemangioma	-	OMIM:171300
7428	VHL	HP:0002321	Vertigo	24/35	OMIM:193300
7428	VHL	HP:0002321	Vertigo	HP:0040283	ORPHA:892
7428	VHL	HP:0002315	Headache	1/1	OMIM:263400
7428	VHL	HP:0002315	Headache	HP:0040283	ORPHA:892
7428	VHL	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:29072
7428	VHL	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:276621
7428	VHL	HP:0001095	Hypertensive retinopathy	HP:0040283	ORPHA:892
7428	VHL	HP:0001095	Hypertensive retinopathy	-	OMIM:171300
7428	VHL	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:29072
7428	VHL	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:276621
7428	VHL	HP:0001085	Papilledema	HP:0040283	ORPHA:892
7428	VHL	HP:0009763	Limb pain	HP:0040283	ORPHA:892
7428	VHL	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:29072
7428	VHL	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:276621
7428	VHL	HP:0003621	Juvenile onset	1/7	OMIM:263400
7428	VHL	HP:0005584	Renal cell carcinoma	HP:0040282	ORPHA:892
7428	VHL	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:29072
7428	VHL	HP:0005584	Renal cell carcinoma	-	OMIM:193300
7428	VHL	HP:0005584	Renal cell carcinoma	-	OMIM:144700
7428	VHL	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:892
7428	VHL	HP:0005562	Multiple renal cysts	-	OMIM:193300
7428	VHL	HP:0006880	Cerebellar hemangioblastoma	HP:0040282	ORPHA:892
7428	VHL	HP:0006880	Cerebellar hemangioblastoma	-	OMIM:193300
7428	VHL	HP:0001962	Palpitations	HP:0040282	ORPHA:276621
7428	VHL	HP:0001962	Palpitations	HP:0040282	ORPHA:29072
7428	VHL	HP:0001962	Palpitations	HP:0040283	ORPHA:892
7428	VHL	HP:0001920	Renal artery stenosis	-	OMIM:171300
7428	VHL	HP:0001900	Increased circulating hemoglobin concentration	9/9	OMIM:263400
7428	VHL	HP:0001901	Polycythemia	HP:0040284	ORPHA:892
7428	VHL	HP:0001901	Polycythemia	-	OMIM:193300
7428	VHL	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:892
7428	VHL	HP:0003072	Hypercalcemia	-	OMIM:171300
7428	VHL	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:29072
7428	VHL	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:276621
7428	VHL	HP:0000739	Anxiety	HP:0040283	ORPHA:892
7428	VHL	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:29072
7428	VHL	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:276621
7428	VHL	HP:0011463	Childhood onset	7/8	OMIM:263400
7428	VHL	HP:0011462	Young adult onset	-	OMIM:193300
7428	VHL	HP:0000790	Hematuria	HP:0040283	ORPHA:276621
7428	VHL	HP:0000790	Hematuria	HP:0040283	ORPHA:29072
7428	VHL	HP:0000875	Episodic hypertension	-	OMIM:171300
7428	VHL	HP:0012819	Myocarditis	HP:0040284	ORPHA:892
7428	VHL	HP:0000822	Hypertension	-	OMIM:193300
7428	VHL	HP:0000822	Hypertension	HP:0040282	ORPHA:892
7428	VHL	HP:0040049	Macular edema	HP:0040283	ORPHA:892
7428	VHL	HP:0000980	Pallor	HP:0040283	ORPHA:276621
7428	VHL	HP:0000980	Pallor	HP:0040283	ORPHA:29072
7428	VHL	HP:0000980	Pallor	HP:0040283	ORPHA:892
7428	VHL	HP:0000975	Hyperhidrosis	-	OMIM:171300
7428	VHL	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:892
7428	VHL	HP:0000957	Cafe-au-lait spot	-	OMIM:171300
7428	VHL	HP:0011675	Arrhythmia	HP:0040283	ORPHA:892
7428	VHL	HP:0012222	Arachnoid hemangiomatosis	HP:0040283	ORPHA:29072
7428	VHL	HP:0002894	Neoplasm of the pancreas	HP:0040284	ORPHA:892
7428	VHL	HP:0002894	Neoplasm of the pancreas	-	OMIM:193300
7428	VHL	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:29072
7428	VHL	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:276621
7428	VHL	HP:0001508	Failure to thrive	1/1	OMIM:263400
7428	VHL	HP:0012378	Fatigue	-	OMIM:263400
7428	VHL	HP:0012378	Fatigue	HP:0040282	ORPHA:276621
7428	VHL	HP:0012378	Fatigue	HP:0040282	ORPHA:29072
7428	VHL	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:29072
7428	VHL	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:276621
7428	VHL	HP:0001618	Dysphonia	HP:0040282	ORPHA:29072
7428	VHL	HP:0001618	Dysphonia	HP:0040282	ORPHA:276621
7428	VHL	HP:0005162	Abnormal left ventricular function	HP:0040283	ORPHA:892
7428	VHL	HP:0000360	Tinnitus	27/35	OMIM:193300
7428	VHL	HP:0001649	Tachycardia	-	OMIM:171300
7428	VHL	HP:0001658	Myocardial infarction	HP:0040284	ORPHA:892
7428	VHL	HP:0001635	Congestive heart failure	-	OMIM:171300
7428	VHL	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:276621
7428	VHL	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:29072
7428	VHL	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:892
7428	VHL	HP:0000407	Sensorineural hearing impairment	34/35	OMIM:193300
7428	VHL	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:892
7428	VHL	HP:0001737	Pancreatic cysts	-	OMIM:193300
7428	VHL	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:276621
7428	VHL	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:29072
7428	VHL	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:892
7428	VHL	HP:0006748	Adrenal pheochromocytoma	HP:0040282	ORPHA:892
7428	VHL	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:29072
7428	VHL	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:276621
7428	VHL	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:29072
7428	VHL	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:276621
7428	VHL	HP:0030405	Pancreatic endocrine tumor	HP:0040283	ORPHA:892
7428	VHL	HP:0030424	Epididymal cyst	HP:0040284	ORPHA:892
7428	VHL	HP:0030424	Epididymal cyst	-	OMIM:193300
7428	VHL	HP:0000519	Developmental cataract	-	OMIM:171300
7428	VHL	HP:0000526	Aniridia	HP:0040284	ORPHA:29072
7428	VHL	HP:0001824	Weight loss	HP:0040282	ORPHA:276621
7428	VHL	HP:0001824	Weight loss	HP:0040282	ORPHA:29072
7428	VHL	HP:0000572	Visual loss	HP:0040283	ORPHA:892
7428	VHL	HP:0001899	Increased hematocrit	7/7	OMIM:263400
7428	VHL	HP:0030393	Endolymphatic sac tumor	HP:0040283	ORPHA:892
7428	VHL	HP:0001898	Increased red blood cell mass	-	OMIM:263400
7428	VHL	HP:0000541	Retinal detachment	HP:0040284	ORPHA:892
7431	VIM	HP:0001115	Posterior polar cataract	2/2	OMIM:116300
7431	VIM	HP:0000006	Autosomal dominant inheritance	-	OMIM:116300
7431	VIM	HP:0007657	Diffuse nuclear cataract	1/1	OMIM:116300
7431	VIM	HP:0003577	Congenital onset	3/3	OMIM:116300
7431	VIM	HP:0010693	Pulverulent cataract	1/1	OMIM:116300
7436	VLDLR	HP:0002465	Poor speech	-	OMIM:224050
7436	VLDLR	HP:0009878	Cerebellar ataxia associated with quadrupedal gait	4/4	OMIM:224050
7436	VLDLR	HP:0009879	Simplified gyral pattern	-	OMIM:224050
7436	VLDLR	HP:0001290	Generalized hypotonia	-	OMIM:224050
7436	VLDLR	HP:0001272	Cerebellar atrophy	-	OMIM:224050
7436	VLDLR	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1766
7436	VLDLR	HP:0001250	Seizure	2/4	OMIM:224050
7436	VLDLR	HP:0001250	Seizure	HP:0040282	ORPHA:1766
7436	VLDLR	HP:0001252	Hypotonia	-	OMIM:224050
7436	VLDLR	HP:0001252	Hypotonia	HP:0040281	ORPHA:1766
7436	VLDLR	HP:0001251	Ataxia	HP:0040281	ORPHA:1766
7436	VLDLR	HP:0001249	Intellectual disability	4/4	OMIM:224050
7436	VLDLR	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1766
7436	VLDLR	HP:0001260	Dysarthria	4/4	OMIM:224050
7436	VLDLR	HP:0001263	Global developmental delay	4/4	OMIM:224050
7436	VLDLR	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:1766
7436	VLDLR	HP:0001347	Hyperreflexia	-	OMIM:224050
7436	VLDLR	HP:0000007	Autosomal recessive inheritance	-	OMIM:224050
7436	VLDLR	HP:0001310	Dysmetria	-	OMIM:224050
7436	VLDLR	HP:0001302	Pachygyria	-	OMIM:224050
7436	VLDLR	HP:0001321	Cerebellar hypoplasia	4/4	OMIM:224050
7436	VLDLR	HP:0002080	Intention tremor	-	OMIM:224050
7436	VLDLR	HP:0002066	Gait ataxia	-	OMIM:224050
7436	VLDLR	HP:0002078	Truncal ataxia	4/4	OMIM:224050
7436	VLDLR	HP:0002075	Dysdiadochokinesis	-	OMIM:224050
7436	VLDLR	HP:0002136	Broad-based gait	-	OMIM:224050
7436	VLDLR	HP:0003593	Infantile onset	4/4	OMIM:224050
7436	VLDLR	HP:0003577	Congenital onset	-	OMIM:224050
7436	VLDLR	HP:0007068	Inferior cerebellar vermis hypoplasia	4/4	OMIM:224050
7436	VLDLR	HP:0002395	Lower limb hyperreflexia	4/4	OMIM:224050
7436	VLDLR	HP:0002365	Hypoplasia of the brainstem	-	OMIM:224050
7436	VLDLR	HP:0003680	Nonprogressive	-	OMIM:224050
7436	VLDLR	HP:0000640	Gaze-evoked nystagmus	-	OMIM:224050
7436	VLDLR	HP:0004322	Short stature	-	OMIM:224050
7436	VLDLR	HP:0004322	Short stature	HP:0040282	ORPHA:1766
7436	VLDLR	HP:0031936	Delayed ability to walk	4/4	OMIM:224050
7436	VLDLR	HP:0100021	Cerebral palsy	HP:0040282	ORPHA:1766
7436	VLDLR	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:1766
7436	VLDLR	HP:0000750	Delayed speech and language development	-	OMIM:224050
7436	VLDLR	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:1766
7436	VLDLR	HP:0000486	Strabismus	4/4	OMIM:224050
7436	VLDLR	HP:0000486	Strabismus	HP:0040282	ORPHA:1766
7436	VLDLR	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:1766
7436	VLDLR	HP:0001763	Pes planus	4/4	OMIM:224050
7436	VLDLR	HP:0000518	Cataract	HP:0040283	ORPHA:1766
7436	VLDLR	HP:0000518	Cataract	-	OMIM:224050
7436	VLDLR	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1766
7439	BEST1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
7439	BEST1	HP:0001139	Choroideremia	HP:0040283	ORPHA:1243
7439	BEST1	HP:0001139	Choroideremia	HP:0040282	ORPHA:99000
7439	BEST1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
7439	BEST1	HP:0001123	Visual field defect	HP:0040283	ORPHA:1243
7439	BEST1	HP:0001123	Visual field defect	HP:0040282	ORPHA:99000
7439	BEST1	HP:0012045	Retinal flecks	-	OMIM:611809
7439	BEST1	HP:0012045	Retinal flecks	-	OMIM:613194
7439	BEST1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
7439	BEST1	HP:0000007	Autosomal recessive inheritance	-	OMIM:611809
7439	BEST1	HP:0000006	Autosomal dominant inheritance	-	OMIM:193220
7439	BEST1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
7439	BEST1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613194
7439	BEST1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153700
7439	BEST1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
7439	BEST1	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
7439	BEST1	HP:0007677	Vitelliform-like macular lesions	HP:0040281	ORPHA:99000
7439	BEST1	HP:0007661	Abnormality of chorioretinal pigmentation	-	OMIM:193220
7439	BEST1	HP:0007663	Reduced visual acuity	-	OMIM:613194
7439	BEST1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
7439	BEST1	HP:0007663	Reduced visual acuity	-	OMIM:611809
7439	BEST1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
7439	BEST1	HP:0007663	Reduced visual acuity	-	OMIM:153700
7439	BEST1	HP:0007641	Dyschromatopsia	HP:0040283	OMIM:193220
7439	BEST1	HP:0010693	Pulverulent cataract	-	OMIM:193220
7439	BEST1	HP:0008499	High hypermetropia	HP:0040281	ORPHA:35612
7439	BEST1	HP:0003621	Juvenile onset	8/19	OMIM:180100
7439	BEST1	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
7439	BEST1	HP:0000639	Nystagmus	-	OMIM:193220
7439	BEST1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
7439	BEST1	HP:0000618	Blindness	HP:0040281	ORPHA:791
7439	BEST1	HP:0000618	Blindness	-	OMIM:193220
7439	BEST1	HP:0000613	Photophobia	HP:0040281	ORPHA:791
7439	BEST1	HP:0000610	Abnormal choroid morphology	HP:0040281	ORPHA:35612
7439	BEST1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
7439	BEST1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
7439	BEST1	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
7439	BEST1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
7439	BEST1	HP:0000662	Nyctalopia	-	OMIM:613194
7439	BEST1	HP:0000662	Nyctalopia	26/28	OMIM:180100
7439	BEST1	HP:0000662	Nyctalopia	-	OMIM:193220
7439	BEST1	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	-	OMIM:611809
7439	BEST1	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
7439	BEST1	HP:0030666	Retinal neovascularization	-	OMIM:193220
7439	BEST1	HP:0011463	Childhood onset	3/19	OMIM:180100
7439	BEST1	HP:0011462	Young adult onset	8/19	OMIM:180100
7439	BEST1	HP:0030786	Photopsia	HP:0040283	ORPHA:791
7439	BEST1	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
7439	BEST1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
7439	BEST1	HP:0030856	Posterior staphyloma	-	OMIM:193220
7439	BEST1	HP:0008043	Retinal arteriolar constriction	-	OMIM:193220
7439	BEST1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
7439	BEST1	HP:0008028	Cystoid macular degeneration	HP:0040281	ORPHA:1243
7439	BEST1	HP:0008028	Cystoid macular degeneration	-	OMIM:153700
7439	BEST1	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:611809
7439	BEST1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
7439	BEST1	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:35612
7439	BEST1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
7439	BEST1	HP:0007754	Macular dystrophy	-	OMIM:153700
7439	BEST1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
7439	BEST1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
7439	BEST1	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:99000
7439	BEST1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
7439	BEST1	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:613194
7439	BEST1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
7439	BEST1	HP:0031526	Subretinal fluid	-	OMIM:153700
7439	BEST1	HP:0007899	Retinal nonattachment	HP:0040283	ORPHA:99000
7439	BEST1	HP:0007902	Vitreous hemorrhage	-	OMIM:193220
7439	BEST1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
7439	BEST1	HP:0007985	Retinal arteriolar occlusion	-	OMIM:193220
7439	BEST1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
7439	BEST1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
7439	BEST1	HP:0000486	Strabismus	HP:0040281	ORPHA:35612
7439	BEST1	HP:0000486	Strabismus	-	OMIM:193220
7439	BEST1	HP:0000482	Microcornea	-	OMIM:193220
7439	BEST1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:99000
7439	BEST1	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
7439	BEST1	HP:0012508	Metamorphopsia	HP:0040281	ORPHA:1243
7439	BEST1	HP:0000519	Developmental cataract	-	OMIM:193220
7439	BEST1	HP:0000510	Rod-cone dystrophy	-	OMIM:613194
7439	BEST1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
7439	BEST1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
7439	BEST1	HP:0000512	Abnormal electroretinogram	-	OMIM:153700
7439	BEST1	HP:0000512	Abnormal electroretinogram	-	OMIM:613194
7439	BEST1	HP:0000505	Visual impairment	HP:0040281	ORPHA:99000
7439	BEST1	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
7439	BEST1	HP:0000505	Visual impairment	HP:0040281	ORPHA:1243
7439	BEST1	HP:0000505	Visual impairment	-	OMIM:153700
7439	BEST1	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:99000
7439	BEST1	HP:0000501	Glaucoma	HP:0040281	ORPHA:35612
7439	BEST1	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
7439	BEST1	HP:0000501	Glaucoma	-	OMIM:193220
7439	BEST1	HP:0000580	Pigmentary retinopathy	-	OMIM:193220
7439	BEST1	HP:0000575	Scotoma	5/18	OMIM:180100
7439	BEST1	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
7439	BEST1	HP:0000568	Microphthalmia	HP:0040281	ORPHA:35612
7439	BEST1	HP:0000568	Microphthalmia	HP:0040283	OMIM:193220
7439	BEST1	HP:0000541	Retinal detachment	-	OMIM:613194
7439	BEST1	HP:0000541	Retinal detachment	-	OMIM:193220
7439	BEST1	HP:0000540	Hypermetropia	-	OMIM:611809
7439	BEST1	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
7439	BEST1	HP:0000551	Color vision defect	HP:0040282	ORPHA:1243
7439	BEST1	HP:0000551	Color vision defect	HP:0040282	ORPHA:99000
7439	BEST1	HP:0000551	Color vision defect	-	OMIM:193220
7439	BEST1	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
7439	BEST1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
7439	BEST1	HP:0000543	Optic disc pallor	-	OMIM:613194
7439	BEST1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
7439	BEST1	HP:0000545	Myopia	-	OMIM:180100
7443	VRK1	HP:0002460	Distal muscle weakness	7/8	OMIM:620542
7443	VRK1	HP:0007269	Spinal muscular atrophy	-	OMIM:607596
7443	VRK1	HP:0009879	Simplified gyral pattern	3/7	OMIM:620542
7443	VRK1	HP:0003701	Proximal muscle weakness	2/8	OMIM:620542
7443	VRK1	HP:0001270	Motor delay	2/2	OMIM:620542
7443	VRK1	HP:0001270	Motor delay	HP:0040281	ORPHA:2254
7443	VRK1	HP:0001270	Motor delay	1/2	OMIM:607596
7443	VRK1	HP:0001256	Intellectual disability, mild	1/2	OMIM:607596
7443	VRK1	HP:0001250	Seizure	HP:0040283	ORPHA:2254
7443	VRK1	HP:0001252	Hypotonia	4/6	OMIM:620542
7443	VRK1	HP:0001252	Hypotonia	1/2	OMIM:607596
7443	VRK1	HP:0001252	Hypotonia	HP:0040281	ORPHA:2254
7443	VRK1	HP:0001251	Ataxia	HP:0040284	ORPHA:2254
7443	VRK1	HP:0001251	Ataxia	2/2	OMIM:607596
7443	VRK1	HP:0001249	Intellectual disability	-	OMIM:607596
7443	VRK1	HP:0001265	Hyporeflexia	6/8	OMIM:620542
7443	VRK1	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:2254
7443	VRK1	HP:0001263	Global developmental delay	11/12	OMIM:607596
7443	VRK1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2254
7443	VRK1	HP:0001257	Spasticity	HP:0040283	ORPHA:2254
7443	VRK1	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:2254
7443	VRK1	HP:0025336	Delayed ability to sit	1/7	OMIM:620542
7443	VRK1	HP:0001348	Brisk reflexes	2/2	OMIM:607596
7443	VRK1	HP:0001347	Hyperreflexia	2/8	OMIM:620542
7443	VRK1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2254
7443	VRK1	HP:0001347	Hyperreflexia	-	OMIM:607596
7443	VRK1	HP:0008872	Feeding difficulties in infancy	-	OMIM:607596
7443	VRK1	HP:0033725	Thin corpus callosum	HP:0040283	ORPHA:2254
7443	VRK1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2254
7443	VRK1	HP:0001324	Muscle weakness	-	OMIM:607596
7443	VRK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620542
7443	VRK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:607596
7443	VRK1	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:2254
7443	VRK1	HP:0001308	Tongue fasciculations	1/2	OMIM:607596
7443	VRK1	HP:0002650	Scoliosis	2/8	OMIM:620542
7443	VRK1	HP:0001321	Cerebellar hypoplasia	2/2	OMIM:607596
7443	VRK1	HP:0001321	Cerebellar hypoplasia	0/8	OMIM:620542
7443	VRK1	HP:0012110	Hypoplasia of the pons	HP:0040282	ORPHA:2254
7443	VRK1	HP:0012110	Hypoplasia of the pons	0/8	OMIM:620542
7443	VRK1	HP:0012110	Hypoplasia of the pons	1/2	OMIM:607596
7443	VRK1	HP:0002033	Poor suck	1/2	OMIM:607596
7443	VRK1	HP:0002015	Dysphagia	2/2	OMIM:607596
7443	VRK1	HP:0002093	Respiratory insufficiency	-	OMIM:607596
7443	VRK1	HP:0003390	Sensory axonal neuropathy	3/6	OMIM:620542
7443	VRK1	HP:0002070	Limb ataxia	1/2	OMIM:607596
7443	VRK1	HP:0003380	Decreased number of peripheral myelinated nerve fibers	1/1	OMIM:620542
7443	VRK1	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:2254
7443	VRK1	HP:0003487	Babinski sign	2/8	OMIM:620542
7443	VRK1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:2254
7443	VRK1	HP:0002120	Cerebral cortical atrophy	1/2	OMIM:607596
7443	VRK1	HP:0003445	EMG: neuropathic changes	-	OMIM:607596
7443	VRK1	HP:0003596	Middle age onset	2/2	OMIM:620542
7443	VRK1	HP:0003577	Congenital onset	1/2	OMIM:607596
7443	VRK1	HP:0004886	Congenital laryngeal stridor	HP:0040283	ORPHA:2254
7443	VRK1	HP:0004878	Intercostal muscle weakness	1/2	OMIM:607596
7443	VRK1	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:620542
7443	VRK1	HP:0200147	Neuronal loss in basal ganglia	-	OMIM:607596
7443	VRK1	HP:0002280	Enlarged cisterna magna	2/2	OMIM:607596
7443	VRK1	HP:0007002	Motor axonal neuropathy	6/6	OMIM:620542
7443	VRK1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2254
7443	VRK1	HP:0002380	Fasciculations	2/2	OMIM:607596
7443	VRK1	HP:0002398	Degeneration of anterior horn cells	HP:0040281	ORPHA:2254
7443	VRK1	HP:0002398	Degeneration of anterior horn cells	-	OMIM:607596
7443	VRK1	HP:0003693	Distal amyotrophy	1/2	OMIM:607596
7443	VRK1	HP:0002360	Sleep abnormality	2/2	OMIM:607596
7443	VRK1	HP:0002378	Hand tremor	1/2	OMIM:607596
7443	VRK1	HP:0003676	Progressive	-	OMIM:607596
7443	VRK1	HP:0002350	Cerebellar cyst	HP:0040283	ORPHA:2254
7443	VRK1	HP:0007141	Sensorimotor neuropathy	1/2	OMIM:607596
7443	VRK1	HP:0007108	Demyelinating peripheral neuropathy	1/2	OMIM:607596
7443	VRK1	HP:0003621	Juvenile onset	3/3	OMIM:620542
7443	VRK1	HP:0006850	Hypoplasia of the ventral pons	-	OMIM:607596
7443	VRK1	HP:0000639	Nystagmus	0/2	OMIM:620542
7443	VRK1	HP:0000639	Nystagmus	HP:0040282	ORPHA:2254
7443	VRK1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:2254
7443	VRK1	HP:0006956	Lateral ventricle dilatation	1/2	OMIM:607596
7443	VRK1	HP:0030674	Antenatal onset	2/3	OMIM:620542
7443	VRK1	HP:0006999	Basal ganglia gliosis	-	OMIM:607596
7443	VRK1	HP:0011463	Childhood onset	1/3	OMIM:620542
7443	VRK1	HP:0011461	Fetal onset	1/2	OMIM:607596
7443	VRK1	HP:0003236	Elevated circulating creatine kinase concentration	0/2	OMIM:620542
7443	VRK1	HP:0003202	Skeletal muscle atrophy	7/8	OMIM:620542
7443	VRK1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:2254
7443	VRK1	HP:0100297	Increased endomysial connective tissue	1/1	OMIM:620542
7443	VRK1	HP:0002803	Congenital contracture	-	OMIM:607596
7443	VRK1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	ORPHA:2254
7443	VRK1	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:2254
7443	VRK1	HP:0000252	Microcephaly	3/8	OMIM:620542
7443	VRK1	HP:0000252	Microcephaly	2/2	OMIM:607596
7443	VRK1	HP:0002878	Respiratory failure	HP:0040281	ORPHA:2254
7443	VRK1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2254
7443	VRK1	HP:0032989	Delayed ability to roll over	1/6	OMIM:620542
7443	VRK1	HP:0000486	Strabismus	HP:0040283	ORPHA:2254
7443	VRK1	HP:0001765	Hammertoe	1/8	OMIM:620542
7443	VRK1	HP:0001760	Abnormal foot morphology	-	OMIM:607596
7443	VRK1	HP:0001762	Talipes equinovarus	2/2	OMIM:607596
7443	VRK1	HP:0001761	Pes cavus	2/3	OMIM:620542
7443	VRK1	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:2254
7443	VRK1	HP:0000565	Esotropia	HP:0040284	ORPHA:2254
7450	VWF	HP:0003828	Variable expressivity	-	OMIM:613554
7450	VWF	HP:0003829	Typified by incomplete penetrance	-	OMIM:193400
7450	VWF	HP:0000007	Autosomal recessive inheritance	-	OMIM:277480
7450	VWF	HP:0000007	Autosomal recessive inheritance	-	OMIM:613554
7450	VWF	HP:0000006	Autosomal dominant inheritance	-	OMIM:193400
7450	VWF	HP:0000006	Autosomal dominant inheritance	-	OMIM:613554
7450	VWF	HP:0012147	Reduced quantity of Von Willebrand factor	-	OMIM:193400
7450	VWF	HP:0006298	Prolonged bleeding after dental extraction	4/12	OMIM:193400
7450	VWF	HP:0000132	Menorrhagia	-	OMIM:193400
7450	VWF	HP:0000132	Menorrhagia	-	OMIM:613554
7450	VWF	HP:0000132	Menorrhagia	-	OMIM:277480
7450	VWF	HP:0002239	Gastrointestinal hemorrhage	-	OMIM:193400
7450	VWF	HP:0003540	Impaired platelet aggregation	-	OMIM:193400
7450	VWF	HP:0003540	Impaired platelet aggregation	-	OMIM:277480
7450	VWF	HP:0008330	Reduced von Willebrand factor activity	1/1	OMIM:277480
7450	VWF	HP:0004846	Prolonged bleeding after surgery	4/12	OMIM:193400
7450	VWF	HP:0004846	Prolonged bleeding after surgery	-	OMIM:277480
7450	VWF	HP:0005542	Prolonged whole-blood clotting time	-	OMIM:193400
7450	VWF	HP:0001934	Persistent bleeding after trauma	4/12	OMIM:193400
7450	VWF	HP:0001934	Persistent bleeding after trauma	-	OMIM:277480
7450	VWF	HP:0003010	Prolonged bleeding time	-	OMIM:193400
7450	VWF	HP:0003010	Prolonged bleeding time	-	OMIM:277480
7450	VWF	HP:0003125	Reduced factor VIII activity	-	OMIM:193400
7450	VWF	HP:0003125	Reduced factor VIII activity	1/1	OMIM:277480
7450	VWF	HP:0000978	Bruising susceptibility	5/12	OMIM:193400
7450	VWF	HP:0000978	Bruising susceptibility	-	OMIM:613554
7450	VWF	HP:0000978	Bruising susceptibility	-	OMIM:277480
7450	VWF	HP:0005261	Joint hemorrhage	-	OMIM:193400
7450	VWF	HP:0005261	Joint hemorrhage	HP:0040283	OMIM:277480
7450	VWF	HP:0001650	Aortic valve stenosis	-	OMIM:193400
7450	VWF	HP:0001634	Mitral valve prolapse	-	OMIM:193400
7450	VWF	HP:0000471	Gastrointestinal angiodysplasia	-	OMIM:193400
7450	VWF	HP:0000421	Epistaxis	8/12	OMIM:193400
7450	VWF	HP:0000421	Epistaxis	-	OMIM:613554
7450	VWF	HP:0000421	Epistaxis	-	OMIM:277480
7450	VWF	HP:0001892	Abnormal bleeding	-	OMIM:277480
7450	VWF	HP:0001873	Thrombocytopenia	-	OMIM:613554
7450	VWF	HP:0001873	Thrombocytopenia	-	OMIM:277480
7453	WARS1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
7453	WARS1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
7453	WARS1	HP:0001288	Gait disturbance	-	OMIM:617721
7453	WARS1	HP:0001250	Seizure	0/4	OMIM:620317
7453	WARS1	HP:0001252	Hypotonia	2/4	OMIM:620317
7453	WARS1	HP:0001251	Ataxia	1/4	OMIM:620317
7453	WARS1	HP:0001249	Intellectual disability	4/4	OMIM:620317
7453	WARS1	HP:0001265	Hyporeflexia	-	OMIM:617721
7453	WARS1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
7453	WARS1	HP:0001263	Global developmental delay	5/5	OMIM:620317
7453	WARS1	HP:0001257	Spasticity	0/4	OMIM:620317
7453	WARS1	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
7453	WARS1	HP:0002540	Inability to walk	1/1	OMIM:620317
7453	WARS1	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
7453	WARS1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
7453	WARS1	HP:0001344	Absent speech	1/1	OMIM:620317
7453	WARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620317
7453	WARS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617721
7453	WARS1	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
7453	WARS1	HP:0008959	Distal upper limb muscle weakness	7/7	OMIM:617721
7453	WARS1	HP:0008944	Distal lower limb amyotrophy	7/7	OMIM:617721
7453	WARS1	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
7453	WARS1	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:620317
7453	WARS1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
7453	WARS1	HP:0003438	Absent Achilles reflex	7/7	OMIM:617721
7453	WARS1	HP:0002188	Delayed CNS myelination	1/1	OMIM:620317
7453	WARS1	HP:0003593	Infantile onset	4/4	OMIM:620317
7453	WARS1	HP:0003577	Congenital onset	1/1	OMIM:620317
7453	WARS1	HP:0009748	Large earlobe	2/3	OMIM:620317
7453	WARS1	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
7453	WARS1	HP:0007002	Motor axonal neuropathy	7/7	OMIM:617721
7453	WARS1	HP:0002352	Leukoencephalopathy	1/3	OMIM:620317
7453	WARS1	HP:0003677	Slowly progressive	-	OMIM:617721
7453	WARS1	HP:0002317	Unsteady gait	1/4	OMIM:620317
7453	WARS1	HP:0007149	Distal upper limb amyotrophy	7/7	OMIM:617721
7453	WARS1	HP:0003621	Juvenile onset	7/7	OMIM:617721
7453	WARS1	HP:0006844	Absent patellar reflexes	4/7	OMIM:617721
7453	WARS1	HP:0000637	Long palpebral fissure	2/3	OMIM:620317
7453	WARS1	HP:0009053	Distal lower limb muscle weakness	7/7	OMIM:617721
7453	WARS1	HP:0000664	Synophrys	2/3	OMIM:620317
7453	WARS1	HP:0006989	Dysplastic corpus callosum	3/3	OMIM:620317
7453	WARS1	HP:0004322	Short stature	HP:0040281	ORPHA:2512
7453	WARS1	HP:0000750	Delayed speech and language development	4/4	OMIM:620317
7453	WARS1	HP:0000729	Autistic behavior	2/4	OMIM:620317
7453	WARS1	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
7453	WARS1	HP:0034295	Reduced cerebral white matter volume	1/3	OMIM:620317
7453	WARS1	HP:0030890	Hyperintensity of cerebral white matter on MRI	2/3	OMIM:620317
7453	WARS1	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
7453	WARS1	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
7453	WARS1	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
7453	WARS1	HP:0000340	Sloping forehead	2/3	OMIM:620317
7453	WARS1	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
7453	WARS1	HP:0000448	Prominent nose	2/3	OMIM:620317
7453	WARS1	HP:0001761	Pes cavus	-	OMIM:617721
7453	WARS1	HP:0000426	Prominent nasal bridge	2/3	OMIM:620317
7453	WARS1	HP:0005484	Secondary microcephaly	1/1	OMIM:620317
7453	WARS1	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
7454	WAS	HP:0002488	Acute leukemia	HP:0040283	ORPHA:906
7454	WAS	HP:0032218	Decreased proportion of CD4-positive T cells	11/54	OMIM:301000
7454	WAS	HP:0100806	Sepsis	13/154	OMIM:301000
7454	WAS	HP:0100806	Sepsis	HP:0040283	ORPHA:906
7454	WAS	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:906
7454	WAS	HP:0001287	Meningitis	HP:0040283	ORPHA:906
7454	WAS	HP:0002573	Hematochezia	HP:0040282	ORPHA:906
7454	WAS	HP:0007420	Spontaneous hematomas	HP:0040281	ORPHA:906
7454	WAS	HP:0033607	Bone marrow arrest at the promyelocytic stage	-	OMIM:300299
7454	WAS	HP:0001369	Arthritis	HP:0040283	ORPHA:906
7454	WAS	HP:0002664	Neoplasm	HP:0040283	ORPHA:906
7454	WAS	HP:0001328	Specific learning disability	HP:0040282	ORPHA:906
7454	WAS	HP:0002665	Lymphoma	HP:0040283	ORPHA:906
7454	WAS	HP:0002633	Vasculitis	HP:0040283	ORPHA:906
7454	WAS	HP:0012177	Abnormal natural killer cell physiology	2/2	OMIM:301000
7454	WAS	HP:0000140	Abnormality of the menstrual cycle	HP:0040283	ORPHA:906
7454	WAS	HP:0002783	Recurrent lower respiratory tract infections	-	OMIM:301000
7454	WAS	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:301000
7454	WAS	HP:0000112	Nephropathy	-	OMIM:301000
7454	WAS	HP:0000112	Nephropathy	HP:0040283	ORPHA:906
7454	WAS	HP:0001419	X-linked recessive inheritance	-	OMIM:300299
7454	WAS	HP:0001419	X-linked recessive inheritance	-	OMIM:301000
7454	WAS	HP:0001419	X-linked recessive inheritance	-	OMIM:313900
7454	WAS	HP:0002718	Recurrent bacterial infections	6/6	OMIM:300299
7454	WAS	HP:0002718	Recurrent bacterial infections	HP:0040281	ORPHA:86788
7454	WAS	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:906
7454	WAS	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	32/94	OMIM:301000
7454	WAS	HP:0002037	Inflammation of the large intestine	-	OMIM:301000
7454	WAS	HP:0002037	Inflammation of the large intestine	HP:0040282	ORPHA:906
7454	WAS	HP:0002028	Chronic diarrhea	13/154	OMIM:301000
7454	WAS	HP:0002028	Chronic diarrhea	HP:0040281	ORPHA:906
7454	WAS	HP:0002014	Diarrhea	-	OMIM:301000
7454	WAS	HP:0002094	Dyspnea	HP:0040282	ORPHA:906
7454	WAS	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:906
7454	WAS	HP:0033222	Inverted CD4:CD8 ratio	6/6	OMIM:300299
7454	WAS	HP:0011875	Abnormal platelet morphology	HP:0040281	ORPHA:906
7454	WAS	HP:0011869	Abnormal platelet function	HP:0040283	ORPHA:906
7454	WAS	HP:0003593	Infantile onset	11/11	OMIM:301000
7454	WAS	HP:0003577	Congenital onset	6/6	OMIM:300299
7454	WAS	HP:0002249	Melena	-	OMIM:301000
7454	WAS	HP:0002248	Hematemesis	-	OMIM:301000
7454	WAS	HP:0002248	Hematemesis	HP:0040282	ORPHA:906
7454	WAS	HP:0004854	Intermittent thrombocytopenia	-	OMIM:313900
7454	WAS	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:906
7454	WAS	HP:0100774	Hyperostosis	HP:0040283	ORPHA:906
7454	WAS	HP:0100749	Chest pain	HP:0040283	ORPHA:906
7454	WAS	HP:0011944	Small vessel vasculitis	1/11	OMIM:301000
7454	WAS	HP:0001025	Urticaria	HP:0040283	ORPHA:906
7454	WAS	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:906
7454	WAS	HP:0200042	Skin ulcer	HP:0040283	ORPHA:906
7454	WAS	HP:0005537	Decreased mean platelet volume	63/63	OMIM:301000
7454	WAS	HP:0005537	Decreased mean platelet volume	3/3	OMIM:313900
7454	WAS	HP:0005523	Lymphoproliferative disorder	2/11	OMIM:301000
7454	WAS	HP:0005558	Chronic leukemia	HP:0040283	ORPHA:906
7454	WAS	HP:0001945	Fever	HP:0040281	ORPHA:906
7454	WAS	HP:0001935	Microcytic anemia	HP:0040282	ORPHA:906
7454	WAS	HP:0001903	Anemia	HP:0040282	ORPHA:906
7454	WAS	HP:0001905	Congenital thrombocytopenia	3/3	OMIM:313900
7454	WAS	HP:0001983	Reduced lymphocyte surface expression of CD43	-	OMIM:301000
7454	WAS	HP:0006946	Recurrent meningitis	3/154	OMIM:301000
7454	WAS	HP:0003011	Abnormality of the musculature	-	OMIM:313900
7454	WAS	HP:0003010	Prolonged bleeding time	-	OMIM:301000
7454	WAS	HP:0003010	Prolonged bleeding time	HP:0040281	ORPHA:906
7454	WAS	HP:0000778	Hypoplasia of the thymus	HP:0040283	ORPHA:906
7454	WAS	HP:0003212	Increased circulating IgE concentration	8/9	OMIM:301000
7454	WAS	HP:0003212	Increased circulating IgE concentration	-	OMIM:313900
7454	WAS	HP:0003261	Increased circulating IgA concentration	-	OMIM:301000
7454	WAS	HP:0003261	Increased circulating IgA concentration	-	OMIM:313900
7454	WAS	HP:0000979	Purpura	-	OMIM:301000
7454	WAS	HP:0000979	Purpura	HP:0040282	ORPHA:906
7454	WAS	HP:0000978	Bruising susceptibility	HP:0040281	ORPHA:906
7454	WAS	HP:0000978	Bruising susceptibility	-	OMIM:313900
7454	WAS	HP:0100279	Ulcerative colitis	1/11	OMIM:301000
7454	WAS	HP:0000964	Eczematoid dermatitis	0/6	OMIM:300299
7454	WAS	HP:0000964	Eczematoid dermatitis	11/11	OMIM:301000
7454	WAS	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:906
7454	WAS	HP:0000964	Eczematoid dermatitis	-	OMIM:313900
7454	WAS	HP:0000967	Petechiae	-	OMIM:301000
7454	WAS	HP:0000967	Petechiae	HP:0040282	ORPHA:906
7454	WAS	HP:0000967	Petechiae	-	OMIM:313900
7454	WAS	HP:0040184	Oral bleeding	-	OMIM:301000
7454	WAS	HP:0011675	Arrhythmia	HP:0040282	ORPHA:906
7454	WAS	HP:0000246	Sinusitis	HP:0040281	ORPHA:906
7454	WAS	HP:0000225	Gingival bleeding	-	OMIM:301000
7454	WAS	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:906
7454	WAS	HP:0002850	Decreased circulating total IgM	11/20	OMIM:301000
7454	WAS	HP:0002848	Decreased specific anti-polysaccharide antibody level	-	OMIM:301000
7454	WAS	HP:0006510	Chronic pulmonary obstruction	HP:0040281	ORPHA:906
7454	WAS	HP:0012378	Fatigue	HP:0040282	ORPHA:906
7454	WAS	HP:0011029	Internal hemorrhage	HP:0040281	ORPHA:906
7454	WAS	HP:0000389	Chronic otitis media	HP:0040281	ORPHA:906
7454	WAS	HP:0000388	Otitis media	HP:0040281	ORPHA:906
7454	WAS	HP:0005261	Joint hemorrhage	-	OMIM:313900
7454	WAS	HP:0006532	Recurrent pneumonia	50/154	OMIM:301000
7454	WAS	HP:0006535	Recurrent intrapulmonary hemorrhage	HP:0040283	ORPHA:906
7454	WAS	HP:0012312	Decreased total monocyte count	4/6	OMIM:300299
7454	WAS	HP:0012312	Decreased total monocyte count	HP:0040281	ORPHA:86788
7454	WAS	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:906
7454	WAS	HP:0002960	Autoimmunity	HP:0040282	ORPHA:906
7454	WAS	HP:0002971	Absent microvilli on the surface of peripheral blood lymphocytes	-	OMIM:301000
7454	WAS	HP:0002963	Abnormal delayed hypersensitivity skin test	-	OMIM:301000
7454	WAS	HP:0000498	Blepharitis	HP:0040283	ORPHA:906
7454	WAS	HP:0005353	Recurrent herpes	19/154	OMIM:301000
7454	WAS	HP:0005310	Large vessel vasculitis	-	OMIM:301000
7454	WAS	HP:0000403	Recurrent otitis media	83/165	OMIM:301000
7454	WAS	HP:0000491	Keratitis	HP:0040283	ORPHA:906
7454	WAS	HP:0011108	Recurrent sinusitis	32/154	OMIM:301000
7454	WAS	HP:0000421	Epistaxis	-	OMIM:301000
7454	WAS	HP:0000421	Epistaxis	HP:0040283	ORPHA:906
7454	WAS	HP:0000421	Epistaxis	-	OMIM:313900
7454	WAS	HP:0005415	Decreased CD8+ T cell proportion	37/62	OMIM:301000
7454	WAS	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:906
7454	WAS	HP:0001891	Iron deficiency anemia	-	OMIM:301000
7454	WAS	HP:0001890	Autoimmune hemolytic anemia	26/165	OMIM:301000
7454	WAS	HP:0001888	Decreased total lymphocyte count	-	OMIM:301000
7454	WAS	HP:0001888	Decreased total lymphocyte count	HP:0040281	ORPHA:906
7454	WAS	HP:0001880	Increased total eosinophil count	16/52	OMIM:301000
7454	WAS	HP:0001878	Hemolytic anemia	HP:0040282	ORPHA:906
7454	WAS	HP:0001879	Abnormal eosinophil morphology	HP:0040282	ORPHA:906
7454	WAS	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:906
7454	WAS	HP:0001873	Thrombocytopenia	21/21	OMIM:301000
7454	WAS	HP:0001875	Decreased total neutrophil count	HP:0040281	ORPHA:86788
7454	WAS	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:906
7454	WAS	HP:0001875	Decreased total neutrophil count	6/6	OMIM:300299
7456	WIPF1	HP:0002488	Acute leukemia	HP:0040283	ORPHA:906
7456	WIPF1	HP:0100806	Sepsis	HP:0040283	ORPHA:906
7456	WIPF1	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:906
7456	WIPF1	HP:0001287	Meningitis	HP:0040283	ORPHA:906
7456	WIPF1	HP:0002573	Hematochezia	HP:0040282	ORPHA:906
7456	WIPF1	HP:0007420	Spontaneous hematomas	HP:0040281	ORPHA:906
7456	WIPF1	HP:0001369	Arthritis	HP:0040283	ORPHA:906
7456	WIPF1	HP:0002664	Neoplasm	HP:0040283	ORPHA:906
7456	WIPF1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:906
7456	WIPF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614493
7456	WIPF1	HP:0002665	Lymphoma	HP:0040283	ORPHA:906
7456	WIPF1	HP:0002633	Vasculitis	HP:0040283	ORPHA:906
7456	WIPF1	HP:0012177	Abnormal natural killer cell physiology	1/1	OMIM:614493
7456	WIPF1	HP:0000140	Abnormality of the menstrual cycle	HP:0040283	ORPHA:906
7456	WIPF1	HP:0000112	Nephropathy	HP:0040283	ORPHA:906
7456	WIPF1	HP:0002719	Recurrent infections	1/1	OMIM:614493
7456	WIPF1	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:906
7456	WIPF1	HP:0002037	Inflammation of the large intestine	HP:0040282	ORPHA:906
7456	WIPF1	HP:0002028	Chronic diarrhea	HP:0040281	ORPHA:906
7456	WIPF1	HP:0002094	Dyspnea	HP:0040282	ORPHA:906
7456	WIPF1	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:906
7456	WIPF1	HP:0011875	Abnormal platelet morphology	HP:0040281	ORPHA:906
7456	WIPF1	HP:0011869	Abnormal platelet function	HP:0040283	ORPHA:906
7456	WIPF1	HP:0002248	Hematemesis	HP:0040282	ORPHA:906
7456	WIPF1	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:906
7456	WIPF1	HP:0100774	Hyperostosis	HP:0040283	ORPHA:906
7456	WIPF1	HP:0100749	Chest pain	HP:0040283	ORPHA:906
7456	WIPF1	HP:0001025	Urticaria	HP:0040283	ORPHA:906
7456	WIPF1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:906
7456	WIPF1	HP:0200042	Skin ulcer	HP:0040283	ORPHA:906
7456	WIPF1	HP:0005558	Chronic leukemia	HP:0040283	ORPHA:906
7456	WIPF1	HP:0001945	Fever	HP:0040281	ORPHA:906
7456	WIPF1	HP:0001935	Microcytic anemia	HP:0040282	ORPHA:906
7456	WIPF1	HP:0001903	Anemia	HP:0040282	ORPHA:906
7456	WIPF1	HP:0003010	Prolonged bleeding time	HP:0040281	ORPHA:906
7456	WIPF1	HP:0000778	Hypoplasia of the thymus	HP:0040283	ORPHA:906
7456	WIPF1	HP:0000979	Purpura	HP:0040282	ORPHA:906
7456	WIPF1	HP:0000978	Bruising susceptibility	HP:0040281	ORPHA:906
7456	WIPF1	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:906
7456	WIPF1	HP:0000964	Eczematoid dermatitis	1/1	OMIM:614493
7456	WIPF1	HP:0000967	Petechiae	HP:0040282	ORPHA:906
7456	WIPF1	HP:0011675	Arrhythmia	HP:0040282	ORPHA:906
7456	WIPF1	HP:0000246	Sinusitis	HP:0040281	ORPHA:906
7456	WIPF1	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:906
7456	WIPF1	HP:0031379	Abnormal T cell proliferation	1/1	OMIM:614493
7456	WIPF1	HP:0006510	Chronic pulmonary obstruction	HP:0040281	ORPHA:906
7456	WIPF1	HP:0012378	Fatigue	HP:0040282	ORPHA:906
7456	WIPF1	HP:0011029	Internal hemorrhage	HP:0040281	ORPHA:906
7456	WIPF1	HP:0000389	Chronic otitis media	HP:0040281	ORPHA:906
7456	WIPF1	HP:0000388	Otitis media	HP:0040281	ORPHA:906
7456	WIPF1	HP:0006535	Recurrent intrapulmonary hemorrhage	HP:0040283	ORPHA:906
7456	WIPF1	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:906
7456	WIPF1	HP:0002960	Autoimmunity	HP:0040282	ORPHA:906
7456	WIPF1	HP:0000498	Blepharitis	HP:0040283	ORPHA:906
7456	WIPF1	HP:0000491	Keratitis	HP:0040283	ORPHA:906
7456	WIPF1	HP:0000421	Epistaxis	HP:0040283	ORPHA:906
7456	WIPF1	HP:0005415	Decreased CD8+ T cell proportion	1/1	OMIM:614493
7456	WIPF1	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:906
7456	WIPF1	HP:0001888	Decreased total lymphocyte count	HP:0040281	ORPHA:906
7456	WIPF1	HP:0001878	Hemolytic anemia	HP:0040282	ORPHA:906
7456	WIPF1	HP:0001879	Abnormal eosinophil morphology	HP:0040282	ORPHA:906
7456	WIPF1	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:906
7456	WIPF1	HP:0001873	Thrombocytopenia	1/1	OMIM:614493
7456	WIPF1	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:906
7458	EIF4H	HP:0001181	Adducted thumb	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:904
7458	EIF4H	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001297	Stroke	HP:0040282	ORPHA:904
7458	EIF4H	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:904
7458	EIF4H	HP:0001288	Gait disturbance	HP:0040281	ORPHA:904
7458	EIF4H	HP:0001252	Hypotonia	HP:0040282	ORPHA:904
7458	EIF4H	HP:0001251	Ataxia	HP:0040281	ORPHA:904
7458	EIF4H	HP:0001249	Intellectual disability	HP:0040281	ORPHA:904
7458	EIF4H	HP:0001260	Dysarthria	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001257	Spasticity	HP:0040282	ORPHA:904
7458	EIF4H	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:904
7458	EIF4H	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:904
7458	EIF4H	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:904
7458	EIF4H	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040283	ORPHA:904
7458	EIF4H	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000093	Proteinuria	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000075	Renal duplication	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001387	Joint stiffness	HP:0040282	ORPHA:904
7458	EIF4H	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000014	Abnormality of the bladder	HP:0040282	ORPHA:904
7458	EIF4H	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:904
7458	EIF4H	HP:0001361	Nystagmus-induced head nodding	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000025	Functional abnormality of male internal genitalia	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:904
7458	EIF4H	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:904
7458	EIF4H	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001337	Tremor	HP:0040281	ORPHA:904
7458	EIF4H	HP:0001310	Dysmetria	HP:0040281	ORPHA:904
7458	EIF4H	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:904
7458	EIF4H	HP:0002650	Scoliosis	HP:0040283	ORPHA:904
7458	EIF4H	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:904
7458	EIF4H	HP:0002623	Overriding aorta	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:904
7458	EIF4H	HP:0000158	Macroglossia	HP:0040281	ORPHA:904
7458	EIF4H	HP:0000154	Wide mouth	HP:0040281	ORPHA:904
7458	EIF4H	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000125	Pelvic kidney	HP:0040282	ORPHA:904
7458	EIF4H	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:904
7458	EIF4H	HP:0002024	Malabsorption	HP:0040283	ORPHA:904
7458	EIF4H	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:904
7458	EIF4H	HP:0002019	Constipation	HP:0040282	ORPHA:904
7458	EIF4H	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:904
7458	EIF4H	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:904
7458	EIF4H	HP:0002027	Abdominal pain	HP:0040281	ORPHA:904
7458	EIF4H	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:904
7458	EIF4H	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:904
7458	EIF4H	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:904
7458	EIF4H	HP:0100539	Periorbital edema	HP:0040281	ORPHA:904
7458	EIF4H	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:904
7458	EIF4H	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:904
7458	EIF4H	HP:0002141	Gait imbalance	HP:0040281	ORPHA:904
7458	EIF4H	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:904
7458	EIF4H	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:904
7458	EIF4H	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:904
7458	EIF4H	HP:0002183	Phonophobia	HP:0040281	ORPHA:904
7458	EIF4H	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:904
7458	EIF4H	HP:0010526	Dysgraphia	HP:0040281	ORPHA:904
7458	EIF4H	HP:0002253	Colonic diverticula	HP:0040282	ORPHA:904
7458	EIF4H	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:904
7458	EIF4H	HP:0100785	Insomnia	HP:0040282	ORPHA:904
7458	EIF4H	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:904
7458	EIF4H	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:904
7458	EIF4H	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:904
7458	EIF4H	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:904
7458	EIF4H	HP:0002376	Developmental regression	HP:0040283	ORPHA:904
7458	EIF4H	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:904
7458	EIF4H	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:904
7458	EIF4H	HP:0010807	Open bite	HP:0040281	ORPHA:904
7458	EIF4H	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:904
7458	EIF4H	HP:0008499	High hypermetropia	HP:0040281	ORPHA:904
7458	EIF4H	HP:0010780	Hyperacusis	HP:0040281	ORPHA:904
7458	EIF4H	HP:0002308	Chiari malformation	HP:0040283	ORPHA:904
7458	EIF4H	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:904
7458	EIF4H	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:904
7458	EIF4H	HP:0004295	Abnormal gastric mucosa morphology	HP:0040283	ORPHA:904
7458	EIF4H	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000635	Blue irides	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000691	Microdontia	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000670	Carious teeth	HP:0040283	ORPHA:904
7458	EIF4H	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:904
7458	EIF4H	HP:0000668	Hypodontia	HP:0040282	ORPHA:904
7458	EIF4H	HP:0004322	Short stature	HP:0040281	ORPHA:904
7458	EIF4H	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:904
7458	EIF4H	HP:0004305	Involuntary movements	HP:0040281	ORPHA:904
7458	EIF4H	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:904
7458	EIF4H	HP:0004381	Supravalvular aortic stenosis	HP:0040282	ORPHA:904
7458	EIF4H	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:904
7458	EIF4H	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:904
7458	EIF4H	HP:0100025	Overfriendliness	HP:0040281	ORPHA:904
7458	EIF4H	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000739	Anxiety	HP:0040281	ORPHA:904
7458	EIF4H	HP:0000716	Depression	HP:0040281	ORPHA:904
7458	EIF4H	HP:0000717	Autism	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:904
7458	EIF4H	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:904
7458	EIF4H	HP:0004428	Elfin facies	HP:0040281	ORPHA:904
7458	EIF4H	HP:0003198	Myopathy	HP:0040283	ORPHA:904
7458	EIF4H	HP:0003196	Short nose	HP:0040281	ORPHA:904
7458	EIF4H	HP:0000826	Precocious puberty	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000822	Hypertension	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:904
7458	EIF4H	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:904
7458	EIF4H	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000960	Sacral dimple	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000939	Osteoporosis	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000938	Osteopenia	HP:0040283	ORPHA:904
7458	EIF4H	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:904
7458	EIF4H	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:904
7458	EIF4H	HP:0007720	Flat cornea	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000286	Epicanthus	HP:0040281	ORPHA:904
7458	EIF4H	HP:0000280	Coarse facial features	HP:0040281	ORPHA:904
7458	EIF4H	HP:0000275	Narrow face	HP:0040281	ORPHA:904
7458	EIF4H	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:904
7458	EIF4H	HP:0002829	Arthralgia	HP:0040282	ORPHA:904
7458	EIF4H	HP:0002808	Kyphosis	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000252	Microcephaly	HP:0040282	ORPHA:904
7458	EIF4H	HP:0001582	Redundant skin	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:904
7458	EIF4H	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:904
7458	EIF4H	HP:0002857	Genu valgum	HP:0040282	ORPHA:904
7458	EIF4H	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001513	Obesity	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:904
7458	EIF4H	HP:0001609	Hoarse voice	HP:0040281	ORPHA:904
7458	EIF4H	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:904
7458	EIF4H	HP:0001618	Dysphonia	HP:0040283	ORPHA:904
7458	EIF4H	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:904
7458	EIF4H	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000343	Long philtrum	HP:0040281	ORPHA:904
7458	EIF4H	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000337	Broad forehead	HP:0040281	ORPHA:904
7458	EIF4H	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000348	High forehead	HP:0040281	ORPHA:904
7458	EIF4H	HP:0000347	Micrognathia	HP:0040281	ORPHA:904
7458	EIF4H	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:904
7458	EIF4H	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:904
7458	EIF4H	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:904
7458	EIF4H	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:904
7458	EIF4H	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000307	Pointed chin	HP:0040281	ORPHA:904
7458	EIF4H	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:904
7458	EIF4H	HP:0007957	Corneal opacity	HP:0040283	ORPHA:904
7458	EIF4H	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000400	Macrotia	HP:0040281	ORPHA:904
7458	EIF4H	HP:0000486	Strabismus	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000485	Megalocornea	HP:0040283	ORPHA:904
7458	EIF4H	HP:0000464	Abnormality of the neck	HP:0040281	ORPHA:904
7458	EIF4H	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:904
7458	EIF4H	HP:0001763	Pes planus	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000411	Protruding ear	HP:0040281	ORPHA:904
7458	EIF4H	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:904
7458	EIF4H	HP:0000518	Cataract	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001822	Hallux valgus	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000505	Visual impairment	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000501	Glaucoma	HP:0040283	ORPHA:904
7458	EIF4H	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:904
7458	EIF4H	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:904
7458	EIF4H	HP:0000545	Myopia	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001181	Adducted thumb	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:904
7461	CLIP2	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001297	Stroke	HP:0040282	ORPHA:904
7461	CLIP2	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:904
7461	CLIP2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:904
7461	CLIP2	HP:0001252	Hypotonia	HP:0040282	ORPHA:904
7461	CLIP2	HP:0001251	Ataxia	HP:0040281	ORPHA:904
7461	CLIP2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:904
7461	CLIP2	HP:0001260	Dysarthria	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001257	Spasticity	HP:0040282	ORPHA:904
7461	CLIP2	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:904
7461	CLIP2	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:904
7461	CLIP2	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:904
7461	CLIP2	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040283	ORPHA:904
7461	CLIP2	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000093	Proteinuria	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000075	Renal duplication	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001387	Joint stiffness	HP:0040282	ORPHA:904
7461	CLIP2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000014	Abnormality of the bladder	HP:0040282	ORPHA:904
7461	CLIP2	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:904
7461	CLIP2	HP:0001361	Nystagmus-induced head nodding	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000025	Functional abnormality of male internal genitalia	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:904
7461	CLIP2	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:904
7461	CLIP2	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001337	Tremor	HP:0040281	ORPHA:904
7461	CLIP2	HP:0001310	Dysmetria	HP:0040281	ORPHA:904
7461	CLIP2	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:904
7461	CLIP2	HP:0002650	Scoliosis	HP:0040283	ORPHA:904
7461	CLIP2	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:904
7461	CLIP2	HP:0002623	Overriding aorta	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:904
7461	CLIP2	HP:0000158	Macroglossia	HP:0040281	ORPHA:904
7461	CLIP2	HP:0000154	Wide mouth	HP:0040281	ORPHA:904
7461	CLIP2	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000125	Pelvic kidney	HP:0040282	ORPHA:904
7461	CLIP2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:904
7461	CLIP2	HP:0002024	Malabsorption	HP:0040283	ORPHA:904
7461	CLIP2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:904
7461	CLIP2	HP:0002019	Constipation	HP:0040282	ORPHA:904
7461	CLIP2	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:904
7461	CLIP2	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:904
7461	CLIP2	HP:0002027	Abdominal pain	HP:0040281	ORPHA:904
7461	CLIP2	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:904
7461	CLIP2	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:904
7461	CLIP2	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:904
7461	CLIP2	HP:0100539	Periorbital edema	HP:0040281	ORPHA:904
7461	CLIP2	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:904
7461	CLIP2	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:904
7461	CLIP2	HP:0002141	Gait imbalance	HP:0040281	ORPHA:904
7461	CLIP2	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:904
7461	CLIP2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:904
7461	CLIP2	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:904
7461	CLIP2	HP:0002183	Phonophobia	HP:0040281	ORPHA:904
7461	CLIP2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:904
7461	CLIP2	HP:0010526	Dysgraphia	HP:0040281	ORPHA:904
7461	CLIP2	HP:0002253	Colonic diverticula	HP:0040282	ORPHA:904
7461	CLIP2	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:904
7461	CLIP2	HP:0100785	Insomnia	HP:0040282	ORPHA:904
7461	CLIP2	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:904
7461	CLIP2	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:904
7461	CLIP2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:904
7461	CLIP2	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:904
7461	CLIP2	HP:0002376	Developmental regression	HP:0040283	ORPHA:904
7461	CLIP2	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:904
7461	CLIP2	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:904
7461	CLIP2	HP:0010807	Open bite	HP:0040281	ORPHA:904
7461	CLIP2	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:904
7461	CLIP2	HP:0008499	High hypermetropia	HP:0040281	ORPHA:904
7461	CLIP2	HP:0010780	Hyperacusis	HP:0040281	ORPHA:904
7461	CLIP2	HP:0002308	Chiari malformation	HP:0040283	ORPHA:904
7461	CLIP2	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:904
7461	CLIP2	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:904
7461	CLIP2	HP:0004295	Abnormal gastric mucosa morphology	HP:0040283	ORPHA:904
7461	CLIP2	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000635	Blue irides	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000691	Microdontia	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000670	Carious teeth	HP:0040283	ORPHA:904
7461	CLIP2	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:904
7461	CLIP2	HP:0000668	Hypodontia	HP:0040282	ORPHA:904
7461	CLIP2	HP:0004322	Short stature	HP:0040281	ORPHA:904
7461	CLIP2	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:904
7461	CLIP2	HP:0004305	Involuntary movements	HP:0040281	ORPHA:904
7461	CLIP2	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:904
7461	CLIP2	HP:0004381	Supravalvular aortic stenosis	HP:0040282	ORPHA:904
7461	CLIP2	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:904
7461	CLIP2	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:904
7461	CLIP2	HP:0100025	Overfriendliness	HP:0040281	ORPHA:904
7461	CLIP2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000739	Anxiety	HP:0040281	ORPHA:904
7461	CLIP2	HP:0000716	Depression	HP:0040281	ORPHA:904
7461	CLIP2	HP:0000717	Autism	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:904
7461	CLIP2	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:904
7461	CLIP2	HP:0004428	Elfin facies	HP:0040281	ORPHA:904
7461	CLIP2	HP:0003198	Myopathy	HP:0040283	ORPHA:904
7461	CLIP2	HP:0003196	Short nose	HP:0040281	ORPHA:904
7461	CLIP2	HP:0000826	Precocious puberty	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000822	Hypertension	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:904
7461	CLIP2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:904
7461	CLIP2	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000960	Sacral dimple	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000939	Osteoporosis	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000938	Osteopenia	HP:0040283	ORPHA:904
7461	CLIP2	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:904
7461	CLIP2	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:904
7461	CLIP2	HP:0007720	Flat cornea	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000286	Epicanthus	HP:0040281	ORPHA:904
7461	CLIP2	HP:0000280	Coarse facial features	HP:0040281	ORPHA:904
7461	CLIP2	HP:0000275	Narrow face	HP:0040281	ORPHA:904
7461	CLIP2	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:904
7461	CLIP2	HP:0002829	Arthralgia	HP:0040282	ORPHA:904
7461	CLIP2	HP:0002808	Kyphosis	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000252	Microcephaly	HP:0040282	ORPHA:904
7461	CLIP2	HP:0001582	Redundant skin	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:904
7461	CLIP2	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:904
7461	CLIP2	HP:0002857	Genu valgum	HP:0040282	ORPHA:904
7461	CLIP2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001513	Obesity	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:904
7461	CLIP2	HP:0001609	Hoarse voice	HP:0040281	ORPHA:904
7461	CLIP2	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:904
7461	CLIP2	HP:0001618	Dysphonia	HP:0040283	ORPHA:904
7461	CLIP2	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:904
7461	CLIP2	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000343	Long philtrum	HP:0040281	ORPHA:904
7461	CLIP2	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000337	Broad forehead	HP:0040281	ORPHA:904
7461	CLIP2	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000348	High forehead	HP:0040281	ORPHA:904
7461	CLIP2	HP:0000347	Micrognathia	HP:0040281	ORPHA:904
7461	CLIP2	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:904
7461	CLIP2	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:904
7461	CLIP2	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:904
7461	CLIP2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:904
7461	CLIP2	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000307	Pointed chin	HP:0040281	ORPHA:904
7461	CLIP2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:904
7461	CLIP2	HP:0007957	Corneal opacity	HP:0040283	ORPHA:904
7461	CLIP2	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000400	Macrotia	HP:0040281	ORPHA:904
7461	CLIP2	HP:0000486	Strabismus	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000485	Megalocornea	HP:0040283	ORPHA:904
7461	CLIP2	HP:0000464	Abnormality of the neck	HP:0040281	ORPHA:904
7461	CLIP2	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:904
7461	CLIP2	HP:0001763	Pes planus	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000411	Protruding ear	HP:0040281	ORPHA:904
7461	CLIP2	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:904
7461	CLIP2	HP:0000518	Cataract	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001822	Hallux valgus	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000505	Visual impairment	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000501	Glaucoma	HP:0040283	ORPHA:904
7461	CLIP2	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:904
7461	CLIP2	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:904
7461	CLIP2	HP:0000545	Myopia	HP:0040283	ORPHA:904
7466	WFS1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
7466	WFS1	HP:0001141	Severely reduced visual acuity	1/2	OMIM:614296
7466	WFS1	HP:0010935	Abnormality of the upper urinary tract	HP:0040282	ORPHA:411590
7466	WFS1	HP:0008573	Low-frequency sensorineural hearing impairment	-	OMIM:600965
7466	WFS1	HP:0002401	Stroke-like episode	-	OMIM:222300
7466	WFS1	HP:0001250	Seizure	HP:0040282	ORPHA:3463
7466	WFS1	HP:0001250	Seizure	1/20	OMIM:222300
7466	WFS1	HP:0001251	Ataxia	HP:0040282	ORPHA:3463
7466	WFS1	HP:0001251	Ataxia	3/9	OMIM:222300
7466	WFS1	HP:0002579	Gastrointestinal dysmotility	HP:0040282	ORPHA:411590
7466	WFS1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3463
7466	WFS1	HP:0001249	Intellectual disability	2/20	OMIM:222300
7466	WFS1	HP:0001260	Dysarthria	-	OMIM:222300
7466	WFS1	HP:0001260	Dysarthria	HP:0040282	ORPHA:3463
7466	WFS1	HP:0002592	Gastric ulcer	HP:0040283	ORPHA:3463
7466	WFS1	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:3463
7466	WFS1	HP:0000072	Hydroureter	-	OMIM:222300
7466	WFS1	HP:0001387	Joint stiffness	HP:0040283	ORPHA:3463
7466	WFS1	HP:0000029	Testicular atrophy	-	OMIM:222300
7466	WFS1	HP:0000026	Male hypogonadism	HP:0040283	ORPHA:3463
7466	WFS1	HP:0000026	Male hypogonadism	HP:0040282	ORPHA:411590
7466	WFS1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:3463
7466	WFS1	HP:0006217	Limited mobility of proximal interphalangeal joint	-	OMIM:222300
7466	WFS1	HP:0008850	Severe postnatal growth retardation	HP:0040283	ORPHA:411590
7466	WFS1	HP:0000011	Neurogenic bladder	-	OMIM:222300
7466	WFS1	HP:0000010	Recurrent urinary tract infections	HP:0040282	ORPHA:3463
7466	WFS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
7466	WFS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:222300
7466	WFS1	HP:0001337	Tremor	10/20	OMIM:222300
7466	WFS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
7466	WFS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:600965
7466	WFS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
7466	WFS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:116400
7466	WFS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614296
7466	WFS1	HP:0000135	Hypogonadism	HP:0040283	ORPHA:3463
7466	WFS1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
7466	WFS1	HP:0007663	Reduced visual acuity	4/4	OMIM:614296
7466	WFS1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
7466	WFS1	HP:0000126	Hydronephrosis	8/10	OMIM:222300
7466	WFS1	HP:0000112	Nephropathy	HP:0040282	ORPHA:3463
7466	WFS1	HP:0002024	Malabsorption	HP:0040283	ORPHA:3463
7466	WFS1	HP:0002019	Constipation	HP:0040283	ORPHA:3463
7466	WFS1	HP:0002015	Dysphagia	-	OMIM:222300
7466	WFS1	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
7466	WFS1	HP:0005978	Type II diabetes mellitus	2/5	OMIM:614296
7466	WFS1	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:3463
7466	WFS1	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:411590
7466	WFS1	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:411590
7466	WFS1	HP:0002059	Cerebral atrophy	-	OMIM:222300
7466	WFS1	HP:0100518	Dysuria	HP:0040282	ORPHA:3463
7466	WFS1	HP:0040270	Impaired glucose tolerance	2/3	OMIM:614296
7466	WFS1	HP:0008193	Primary gonadal insufficiency	HP:0040282	ORPHA:411590
7466	WFS1	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:411590
7466	WFS1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:3463
7466	WFS1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:3463
7466	WFS1	HP:0003584	Late onset	-	OMIM:125853
7466	WFS1	HP:0100753	Schizophrenia	0/3	OMIM:614296
7466	WFS1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:3463
7466	WFS1	HP:0002376	Developmental regression	HP:0040283	ORPHA:3463
7466	WFS1	HP:0008527	Congenital sensorineural hearing impairment	HP:0040282	ORPHA:411590
7466	WFS1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:3463
7466	WFS1	HP:0003621	Juvenile onset	8/19	OMIM:180100
7466	WFS1	HP:0003621	Juvenile onset	6/7	OMIM:614296
7466	WFS1	HP:0003621	Juvenile onset	5/10	OMIM:222300
7466	WFS1	HP:0003621	Juvenile onset	-	OMIM:600965
7466	WFS1	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
7466	WFS1	HP:0000639	Nystagmus	HP:0040282	ORPHA:3463
7466	WFS1	HP:0000639	Nystagmus	2/10	OMIM:222300
7466	WFS1	HP:0000648	Optic atrophy	5/6	OMIM:614296
7466	WFS1	HP:0000648	Optic atrophy	9/10	OMIM:222300
7466	WFS1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:3463
7466	WFS1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:411590
7466	WFS1	HP:0001959	Polydipsia	HP:0040281	ORPHA:3463
7466	WFS1	HP:0001952	Glucose intolerance	HP:0040282	ORPHA:411590
7466	WFS1	HP:0001924	Sideroblastic anemia	-	OMIM:222300
7466	WFS1	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:3463
7466	WFS1	HP:0001903	Anemia	HP:0040283	ORPHA:3463
7466	WFS1	HP:0000662	Nyctalopia	26/28	OMIM:180100
7466	WFS1	HP:0030644	Blind-spot enlargement	3/3	OMIM:614296
7466	WFS1	HP:0100018	Nuclear cataract	-	OMIM:116400
7466	WFS1	HP:0100016	Abnormal mesentery morphology	HP:0040282	ORPHA:3463
7466	WFS1	HP:0000738	Hallucinations	HP:0040283	ORPHA:3463
7466	WFS1	HP:0000738	Hallucinations	0/3	OMIM:614296
7466	WFS1	HP:0000739	Anxiety	1/4	OMIM:614296
7466	WFS1	HP:0000739	Anxiety	HP:0040281	ORPHA:411590
7466	WFS1	HP:0000716	Depression	-	OMIM:614296
7466	WFS1	HP:0000716	Depression	HP:0040281	ORPHA:411590
7466	WFS1	HP:0000717	Autism	0/3	OMIM:614296
7466	WFS1	HP:0000726	Dementia	HP:0040283	ORPHA:3463
7466	WFS1	HP:0000726	Dementia	HP:0040281	ORPHA:411590
7466	WFS1	HP:0000729	Autistic behavior	HP:0040281	ORPHA:411590
7466	WFS1	HP:0000709	Psychosis	0/3	OMIM:614296
7466	WFS1	HP:0000709	Psychosis	HP:0040281	ORPHA:411590
7466	WFS1	HP:0000708	Atypical behavior	-	OMIM:222300
7466	WFS1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:3463
7466	WFS1	HP:0011463	Childhood onset	3/19	OMIM:180100
7466	WFS1	HP:0011463	Childhood onset	1/4	OMIM:614296
7466	WFS1	HP:0011463	Childhood onset	5/10	OMIM:222300
7466	WFS1	HP:0011462	Young adult onset	8/19	OMIM:180100
7466	WFS1	HP:0003198	Myopathy	HP:0040283	ORPHA:3463
7466	WFS1	HP:0000873	Diabetes insipidus	HP:0040281	ORPHA:3463
7466	WFS1	HP:0000873	Diabetes insipidus	8/20	OMIM:222300
7466	WFS1	HP:0000855	Insulin resistance	-	OMIM:125853
7466	WFS1	HP:0000863	Central diabetes insipidus	HP:0040282	ORPHA:411590
7466	WFS1	HP:0000819	Diabetes mellitus	20/20	OMIM:222300
7466	WFS1	HP:0000819	Diabetes mellitus	1/3	OMIM:614296
7466	WFS1	HP:0000819	Diabetes mellitus	HP:0040281	ORPHA:3463
7466	WFS1	HP:0000819	Diabetes mellitus	HP:0040281	ORPHA:411590
7466	WFS1	HP:0000821	Hypothyroidism	-	OMIM:222300
7466	WFS1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:411590
7466	WFS1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:3463
7466	WFS1	HP:0000823	Delayed puberty	HP:0040282	ORPHA:411590
7466	WFS1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
7466	WFS1	HP:0002871	Central apnea	HP:0040283	ORPHA:3463
7466	WFS1	HP:0001510	Growth delay	3/10	OMIM:222300
7466	WFS1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
7466	WFS1	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:411590
7466	WFS1	HP:0000365	Hearing impairment	3/3	OMIM:614296
7466	WFS1	HP:0000365	Hearing impairment	9/10	OMIM:222300
7466	WFS1	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:3463
7466	WFS1	HP:0001638	Cardiomyopathy	-	OMIM:222300
7466	WFS1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:3463
7466	WFS1	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:600965
7466	WFS1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:3463
7466	WFS1	HP:0000407	Sensorineural hearing impairment	4/5	OMIM:614296
7466	WFS1	HP:0000407	Sensorineural hearing impairment	6/10	OMIM:222300
7466	WFS1	HP:0001730	Progressive hearing impairment	1/2	OMIM:614296
7466	WFS1	HP:0000518	Cataract	5/10	OMIM:222300
7466	WFS1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
7466	WFS1	HP:0000508	Ptosis	-	OMIM:222300
7466	WFS1	HP:0000501	Glaucoma	HP:0040283	OMIM:614296
7466	WFS1	HP:0000501	Glaucoma	HP:0040283	ORPHA:3463
7466	WFS1	HP:0000501	Glaucoma	HP:0040282	ORPHA:411590
7466	WFS1	HP:0000580	Pigmentary retinopathy	-	OMIM:222300
7466	WFS1	HP:0000575	Scotoma	5/18	OMIM:180100
7466	WFS1	HP:0001889	Megaloblastic anemia	-	OMIM:222300
7466	WFS1	HP:0000543	Optic disc pallor	3/4	OMIM:614296
7466	WFS1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
7466	WFS1	HP:0001873	Thrombocytopenia	-	OMIM:222300
7466	WFS1	HP:0000545	Myopia	-	OMIM:180100
7467	-	HP:0001177	Preaxial hand polydactyly	HP:0040283	OMIM:194190
7467	-	HP:0001171	Split hand	HP:0040283	OMIM:194190
7467	-	HP:0009918	Ectopia pupillae	-	OMIM:194190
7467	-	HP:0010864	Intellectual disability, severe	-	OMIM:194190
7467	-	HP:0003745	Sporadic	-	OMIM:194190
7467	-	HP:0001290	Generalized hypotonia	HP:0040281	OMIM:194190
7467	-	HP:0001274	Agenesis of corpus callosum	HP:0040283	OMIM:194190
7467	-	HP:0001250	Seizure	HP:0040282	OMIM:194190
7467	-	HP:0001263	Global developmental delay	HP:0040281	OMIM:194190
7467	-	HP:0007385	Aplasia cutis congenita of scalp	HP:0040283	OMIM:194190
7467	-	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:194190
7467	-	HP:0001385	Hip dysplasia	HP:0040283	OMIM:194190
7467	-	HP:0000047	Hypospadias	50%	OMIM:194190
7467	-	HP:0000028	Cryptorchidism	50%	OMIM:194190
7467	-	HP:0008850	Severe postnatal growth retardation	HP:0040282	OMIM:194190
7467	-	HP:0001331	Absent septum pellucidum	-	OMIM:194190
7467	-	HP:0000006	Autosomal dominant inheritance	-	OMIM:194190
7467	-	HP:0002650	Scoliosis	HP:0040282	OMIM:194190
7467	-	HP:0000188	Short upper lip	HP:0040282	OMIM:194190
7467	-	HP:0000175	Cleft palate	-	OMIM:194190
7467	-	HP:0000151	Aplasia of the uterus	HP:0040283	OMIM:194190
7467	-	HP:0000119	Abnormality of the genitourinary system	25%	OMIM:194190
7467	-	HP:0002750	Delayed skeletal maturation	-	OMIM:194190
7467	-	HP:0002714	Downturned corners of mouth	HP:0040282	OMIM:194190
7467	-	HP:0002721	Immunodeficiency	69%	OMIM:194190
7467	-	HP:0002020	Gastroesophageal reflux	-	OMIM:194190
7467	-	HP:0002011	Morphological central nervous system abnormality	33%	OMIM:194190
7467	-	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	OMIM:194190
7467	-	HP:0002057	Prominent glabella	HP:0040282	OMIM:194190
7467	-	HP:0002144	Tethered cord	HP:0040283	OMIM:194190
7467	-	HP:0002119	Ventriculomegaly	-	OMIM:194190
7467	-	HP:0004794	Malrotation of small bowel	-	OMIM:194190
7467	-	HP:0002162	Low posterior hairline	-	OMIM:194190
7467	-	HP:0011863	Abnormal sternal ossification	-	OMIM:194190
7467	-	HP:0002389	Cavum septum pellucidum	-	OMIM:194190
7467	-	HP:0001028	Hemangioma	HP:0040282	OMIM:194190
7467	-	HP:0002353	EEG abnormality	90%	OMIM:194190
7467	-	HP:0001080	Biliary tract abnormality	HP:0040283	OMIM:194190
7467	-	HP:0007109	Periventricular cysts	-	OMIM:194190
7467	-	HP:0009778	Short thumb	HP:0040283	OMIM:194190
7467	-	HP:0000639	Nystagmus	HP:0040282	OMIM:194190
7467	-	HP:0000612	Iris coloboma	30%	OMIM:194190
7467	-	HP:0000668	Hypodontia	HP:0040282	OMIM:194190
7467	-	HP:0004322	Short stature	HP:0040282	OMIM:194190
7467	-	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	OMIM:194190
7467	-	HP:0009193	Metacarpal pseudoepiphysis	-	OMIM:194190
7467	-	HP:0000733	Motor stereotypy	HP:0040282	OMIM:194190
7467	-	HP:0010109	Short hallux	HP:0040283	OMIM:194190
7467	-	HP:0003199	Decreased muscle mass	HP:0040281	OMIM:194190
7467	-	HP:0000902	Rib fusion	HP:0040282	OMIM:194190
7467	-	HP:0004484	Craniofacial asymmetry	HP:0040282	OMIM:194190
7467	-	HP:0004467	Preauricular pit	HP:0040282	OMIM:194190
7467	-	HP:0000826	Precocious puberty	-	OMIM:194190
7467	-	HP:0000954	Single transverse palmar crease	HP:0040283	OMIM:194190
7467	-	HP:0000960	Sacral dimple	HP:0040283	OMIM:194190
7467	-	HP:0000286	Epicanthus	HP:0040282	OMIM:194190
7467	-	HP:0002827	Hip dislocation	-	OMIM:194190
7467	-	HP:0002808	Kyphosis	HP:0040282	OMIM:194190
7467	-	HP:0000238	Hydrocephalus	HP:0040283	OMIM:194190
7467	-	HP:0000252	Microcephaly	HP:0040282	OMIM:194190
7467	-	HP:0001558	Decreased fetal movement	-	OMIM:194190
7467	-	HP:0000202	Orofacial cleft	HP:0040282	OMIM:194190
7467	-	HP:0000204	Cleft upper lip	-	OMIM:194190
7467	-	HP:0001508	Failure to thrive	HP:0040282	OMIM:194190
7467	-	HP:0001518	Small for gestational age	HP:0040281	OMIM:194190
7467	-	HP:0001511	Intrauterine growth retardation	HP:0040281	OMIM:194190
7467	-	HP:0001510	Growth delay	HP:0040281	OMIM:194190
7467	-	HP:0000384	Preauricular skin tag	HP:0040282	OMIM:194190
7467	-	HP:0000377	Abnormal pinna morphology	HP:0040282	OMIM:194190
7467	-	HP:0002948	Vertebral fusion	-	OMIM:194190
7467	-	HP:0000348	High forehead	HP:0040282	OMIM:194190
7467	-	HP:0000347	Micrognathia	HP:0040282	OMIM:194190
7467	-	HP:0000316	Hypertelorism	HP:0040282	OMIM:194190
7467	-	HP:0002974	Radioulnar synostosis	-	OMIM:194190
7467	-	HP:0000322	Short philtrum	HP:0040282	OMIM:194190
7467	-	HP:0001629	Ventricular septal defect	-	OMIM:194190
7467	-	HP:0001631	Atrial septal defect	27%	OMIM:194190
7467	-	HP:0006655	Rib segmentation abnormalities	HP:0040282	OMIM:194190
7467	-	HP:0000407	Sensorineural hearing impairment	15%	OMIM:194190
7467	-	HP:0000405	Conductive hearing impairment	40%	OMIM:194190
7467	-	HP:0000402	Stenosis of the external auditory canal	HP:0040282	OMIM:194190
7467	-	HP:0000486	Strabismus	HP:0040282	OMIM:194190
7467	-	HP:0000465	Webbed neck	HP:0040283	OMIM:194190
7467	-	HP:0000444	Convex nasal ridge	HP:0040282	OMIM:194190
7467	-	HP:0001747	Accessory spleen	-	OMIM:194190
7467	-	HP:0001762	Talipes equinovarus	HP:0040282	OMIM:194190
7467	-	HP:0000431	Wide nasal bridge	HP:0040282	OMIM:194190
7467	-	HP:0001841	Preaxial foot polydactyly	HP:0040283	OMIM:194190
7467	-	HP:0001840	Metatarsus adductus	-	OMIM:194190
7467	-	HP:0000520	Proptosis	HP:0040282	OMIM:194190
7467	-	HP:0000508	Ptosis	HP:0040282	OMIM:194190
7467	-	HP:0001812	Hyperconvex fingernails	-	OMIM:194190
7467	-	HP:0000558	Rieger anomaly	HP:0040282	OMIM:194190
7468	NSD2	HP:0001177	Preaxial hand polydactyly	HP:0040282	ORPHA:280
7468	NSD2	HP:0001177	Preaxial hand polydactyly	HP:0040283	OMIM:194190
7468	NSD2	HP:0001171	Split hand	HP:0040282	ORPHA:280
7468	NSD2	HP:0001171	Split hand	HP:0040283	OMIM:194190
7468	NSD2	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:280
7468	NSD2	HP:0009918	Ectopia pupillae	-	OMIM:194190
7468	NSD2	HP:0009907	Attached earlobe	1/1	OMIM:619695
7468	NSD2	HP:0009890	High anterior hairline	HP:0040281	ORPHA:280
7468	NSD2	HP:0009899	Prominent crus of helix	1/3	OMIM:619695
7468	NSD2	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:280
7468	NSD2	HP:0010864	Intellectual disability, severe	-	OMIM:194190
7468	NSD2	HP:0008551	Microtia	HP:0040281	ORPHA:280
7468	NSD2	HP:0003745	Sporadic	-	OMIM:194190
7468	NSD2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7468	NSD2	HP:0001293	Cranial nerve compression	-	OMIM:131300
7468	NSD2	HP:0001290	Generalized hypotonia	HP:0040281	OMIM:194190
7468	NSD2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280
7468	NSD2	HP:0001274	Agenesis of corpus callosum	HP:0040283	OMIM:194190
7468	NSD2	HP:0001250	Seizure	HP:0040282	OMIM:194190
7468	NSD2	HP:0001250	Seizure	HP:0040281	ORPHA:280
7468	NSD2	HP:0001252	Hypotonia	7/7	OMIM:619695
7468	NSD2	HP:0001252	Hypotonia	HP:0040281	ORPHA:280
7468	NSD2	HP:0001252	Hypotonia	2/7	OMIM:615777
7468	NSD2	HP:0001251	Ataxia	HP:0040281	ORPHA:280
7468	NSD2	HP:0001249	Intellectual disability	4/4	OMIM:619695
7468	NSD2	HP:0001249	Intellectual disability	5/7	OMIM:615777
7468	NSD2	HP:0001263	Global developmental delay	5/5	OMIM:619695
7468	NSD2	HP:0001263	Global developmental delay	HP:0040281	OMIM:194190
7468	NSD2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:280
7468	NSD2	HP:0001263	Global developmental delay	-	OMIM:615777
7468	NSD2	HP:0007385	Aplasia cutis congenita of scalp	HP:0040282	ORPHA:280
7468	NSD2	HP:0007385	Aplasia cutis congenita of scalp	HP:0040283	OMIM:194190
7468	NSD2	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:280
7468	NSD2	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:280
7468	NSD2	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:194190
7468	NSD2	HP:0002553	Highly arched eyebrow	2/3	OMIM:619695
7468	NSD2	HP:0002515	Waddling gait	54/102	OMIM:131300
7468	NSD2	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:280
7468	NSD2	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:280
7468	NSD2	HP:0000078	Abnormality of the genital system	HP:0040283	ORPHA:280
7468	NSD2	HP:0001385	Hip dysplasia	HP:0040283	OMIM:194190
7468	NSD2	HP:0001382	Joint hypermobility	-	OMIM:615777
7468	NSD2	HP:0000047	Hypospadias	HP:0040281	ORPHA:280
7468	NSD2	HP:0000047	Hypospadias	50%	OMIM:194190
7468	NSD2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7468	NSD2	HP:0001362	Calvarial skull defect	HP:0040282	ORPHA:280
7468	NSD2	HP:0000028	Cryptorchidism	50%	OMIM:194190
7468	NSD2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:280
7468	NSD2	HP:0008897	Postnatal growth retardation	2/3	OMIM:619695
7468	NSD2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7468	NSD2	HP:0008850	Severe postnatal growth retardation	HP:0040282	OMIM:194190
7468	NSD2	HP:0008830	Hypoplastic pubic ramus	HP:0040282	ORPHA:280
7468	NSD2	HP:0001331	Absent septum pellucidum	-	OMIM:194190
7468	NSD2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7468	NSD2	HP:0001324	Muscle weakness	40/96	OMIM:131300
7468	NSD2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7468	NSD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7468	NSD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619695
7468	NSD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:194190
7468	NSD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7468	NSD2	HP:0002650	Scoliosis	HP:0040282	OMIM:194190
7468	NSD2	HP:0002650	Scoliosis	HP:0040282	ORPHA:280
7468	NSD2	HP:0002650	Scoliosis	12/14	OMIM:131300
7468	NSD2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7468	NSD2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7468	NSD2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7468	NSD2	HP:0000188	Short upper lip	HP:0040282	OMIM:194190
7468	NSD2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7468	NSD2	HP:0000159	Abnormal lip morphology	HP:0040281	ORPHA:280
7468	NSD2	HP:0000175	Cleft palate	HP:0040283	ORPHA:280
7468	NSD2	HP:0000175	Cleft palate	-	OMIM:194190
7468	NSD2	HP:0000175	Cleft palate	2/7	OMIM:615777
7468	NSD2	HP:0000153	Abnormality of the mouth	HP:0040281	ORPHA:280
7468	NSD2	HP:0000151	Aplasia of the uterus	HP:0040283	ORPHA:280
7468	NSD2	HP:0000151	Aplasia of the uterus	HP:0040283	OMIM:194190
7468	NSD2	HP:0000119	Abnormality of the genitourinary system	25%	OMIM:194190
7468	NSD2	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:280
7468	NSD2	HP:0002750	Delayed skeletal maturation	-	OMIM:194190
7468	NSD2	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:280
7468	NSD2	HP:0002714	Downturned corners of mouth	HP:0040281	ORPHA:280
7468	NSD2	HP:0002714	Downturned corners of mouth	HP:0040282	OMIM:194190
7468	NSD2	HP:0002720	Decreased circulating IgA concentration	HP:0040282	ORPHA:280
7468	NSD2	HP:0002721	Immunodeficiency	69%	OMIM:194190
7468	NSD2	HP:0002020	Gastroesophageal reflux	-	OMIM:194190
7468	NSD2	HP:0003363	Abdominal situs inversus	HP:0040283	ORPHA:280
7468	NSD2	HP:0002011	Morphological central nervous system abnormality	33%	OMIM:194190
7468	NSD2	HP:0002007	Frontal bossing	HP:0040281	ORPHA:280
7468	NSD2	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:280
7468	NSD2	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	OMIM:194190
7468	NSD2	HP:0002057	Prominent glabella	HP:0040282	OMIM:194190
7468	NSD2	HP:0003388	Easy fatigability	36/76	OMIM:131300
7468	NSD2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7468	NSD2	HP:0010464	Streak ovary	HP:0040283	ORPHA:280
7468	NSD2	HP:0002144	Tethered cord	HP:0040282	ORPHA:280
7468	NSD2	HP:0002144	Tethered cord	HP:0040283	OMIM:194190
7468	NSD2	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280
7468	NSD2	HP:0002119	Ventriculomegaly	-	OMIM:194190
7468	NSD2	HP:0004794	Malrotation of small bowel	-	OMIM:194190
7468	NSD2	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:280
7468	NSD2	HP:0002162	Low posterior hairline	-	OMIM:194190
7468	NSD2	HP:0011863	Abnormal sternal ossification	-	OMIM:194190
7468	NSD2	HP:0004719	Hyperechogenic kidneys	1/3	OMIM:619695
7468	NSD2	HP:0003593	Infantile onset	1/1	OMIM:619695
7468	NSD2	HP:0002240	Hepatomegaly	1/1	OMIM:619695
7468	NSD2	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:280
7468	NSD2	HP:0100790	Hernia	HP:0040283	ORPHA:280
7468	NSD2	HP:0011968	Feeding difficulties	2/2	OMIM:619695
7468	NSD2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:280
7468	NSD2	HP:0003510	Severe short stature	7/7	OMIM:615777
7468	NSD2	HP:0002389	Cavum septum pellucidum	-	OMIM:194190
7468	NSD2	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:280
7468	NSD2	HP:0001028	Hemangioma	HP:0040282	ORPHA:280
7468	NSD2	HP:0001028	Hemangioma	HP:0040282	OMIM:194190
7468	NSD2	HP:0002353	EEG abnormality	90%	OMIM:194190
7468	NSD2	HP:0002315	Headache	-	OMIM:131300
7468	NSD2	HP:0004976	Knee dislocation	6/7	OMIM:615777
7468	NSD2	HP:0009803	Short phalanx of finger	-	OMIM:615777
7468	NSD2	HP:0001080	Biliary tract abnormality	HP:0040283	OMIM:194190
7468	NSD2	HP:0007109	Periventricular cysts	-	OMIM:194190
7468	NSD2	HP:0009778	Short thumb	HP:0040282	ORPHA:280
7468	NSD2	HP:0009778	Short thumb	HP:0040283	OMIM:194190
7468	NSD2	HP:0009763	Limb pain	63/92	OMIM:131300
7468	NSD2	HP:0003621	Juvenile onset	-	OMIM:131300
7468	NSD2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7468	NSD2	HP:0004209	Clinodactyly of the 5th finger	1/1	OMIM:619695
7468	NSD2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7468	NSD2	HP:0000639	Nystagmus	HP:0040282	OMIM:194190
7468	NSD2	HP:0000639	Nystagmus	HP:0040283	ORPHA:280
7468	NSD2	HP:6001056	Out-toeing	-	OMIM:131300
7468	NSD2	HP:0000651	Diplopia	-	OMIM:131300
7468	NSD2	HP:0000648	Optic atrophy	HP:0040282	ORPHA:280
7468	NSD2	HP:0000647	Sclerocornea	HP:0040283	ORPHA:280
7468	NSD2	HP:0000612	Iris coloboma	HP:0040282	ORPHA:280
7468	NSD2	HP:0000612	Iris coloboma	30%	OMIM:194190
7468	NSD2	HP:0000629	Periorbital fullness	1/1	OMIM:619695
7468	NSD2	HP:0001956	Truncal obesity	2/7	OMIM:615777
7468	NSD2	HP:0001903	Anemia	HP:0040283	OMIM:131300
7468	NSD2	HP:0010049	Short metacarpal	-	OMIM:615777
7468	NSD2	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:280
7468	NSD2	HP:0000679	Taurodontia	HP:0040282	ORPHA:280
7468	NSD2	HP:0000678	Dental crowding	-	OMIM:615777
7468	NSD2	HP:0000670	Carious teeth	-	OMIM:131300
7468	NSD2	HP:0011304	Broad thumb	2/7	OMIM:615777
7468	NSD2	HP:0000668	Hypodontia	-	OMIM:615777
7468	NSD2	HP:0000668	Hypodontia	HP:0040281	ORPHA:280
7468	NSD2	HP:0000668	Hypodontia	HP:0040282	OMIM:194190
7468	NSD2	HP:0000664	Synophrys	-	OMIM:615777
7468	NSD2	HP:0004322	Short stature	2/3	OMIM:619695
7468	NSD2	HP:0004322	Short stature	HP:0040282	OMIM:194190
7468	NSD2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:280
7468	NSD2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	OMIM:194190
7468	NSD2	HP:0009193	Metacarpal pseudoepiphysis	-	OMIM:194190
7468	NSD2	HP:0004396	Poor appetite	-	OMIM:131300
7468	NSD2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7468	NSD2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7468	NSD2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7468	NSD2	HP:0003026	Short long bone	7/7	OMIM:615777
7468	NSD2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7468	NSD2	HP:0000752	Hyperactivity	1/1	OMIM:619695
7468	NSD2	HP:0100022	Abnormality of movement	HP:0040283	ORPHA:280
7468	NSD2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7468	NSD2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7468	NSD2	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:280
7468	NSD2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7468	NSD2	HP:0000739	Anxiety	1/1	OMIM:619695
7468	NSD2	HP:0000733	Motor stereotypy	HP:0040282	OMIM:194190
7468	NSD2	HP:0000733	Motor stereotypy	1/1	OMIM:619695
7468	NSD2	HP:0000750	Delayed speech and language development	-	OMIM:615777
7468	NSD2	HP:0000718	Aggressive behavior	1/1	OMIM:619695
7468	NSD2	HP:0000729	Autistic behavior	1/1	OMIM:619695
7468	NSD2	HP:0011461	Fetal onset	6/6	OMIM:619695
7468	NSD2	HP:0011461	Fetal onset	7/7	OMIM:615777
7468	NSD2	HP:0010109	Short hallux	HP:0040282	ORPHA:280
7468	NSD2	HP:0010109	Short hallux	HP:0040283	OMIM:194190
7468	NSD2	HP:0000774	Narrow chest	2/7	OMIM:615777
7468	NSD2	HP:0000776	Congenital diaphragmatic hernia	HP:0040282	ORPHA:280
7468	NSD2	HP:0003199	Decreased muscle mass	HP:0040281	OMIM:194190
7468	NSD2	HP:0000925	Abnormality of the vertebral column	HP:0040282	ORPHA:280
7468	NSD2	HP:0000926	Platyspondyly	1/7	OMIM:615777
7468	NSD2	HP:0003180	Flat acetabular roof	-	OMIM:615777
7468	NSD2	HP:0000902	Rib fusion	HP:0040282	ORPHA:280
7468	NSD2	HP:0000902	Rib fusion	HP:0040282	OMIM:194190
7468	NSD2	HP:0004484	Craniofacial asymmetry	HP:0040282	OMIM:194190
7468	NSD2	HP:0004482	Relative macrocephaly	-	OMIM:615777
7468	NSD2	HP:0004467	Preauricular pit	HP:0040282	ORPHA:280
7468	NSD2	HP:0004467	Preauricular pit	HP:0040282	OMIM:194190
7468	NSD2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7468	NSD2	HP:0000826	Precocious puberty	-	OMIM:194190
7468	NSD2	HP:0000823	Delayed puberty	-	OMIM:131300
7468	NSD2	HP:0000894	Short clavicles	-	OMIM:615777
7468	NSD2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7468	NSD2	HP:0000958	Dry skin	HP:0040282	ORPHA:280
7468	NSD2	HP:0000954	Single transverse palmar crease	HP:0040283	OMIM:194190
7468	NSD2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7468	NSD2	HP:0000960	Sacral dimple	1/1	OMIM:619695
7468	NSD2	HP:0000960	Sacral dimple	HP:0040282	ORPHA:280
7468	NSD2	HP:0000960	Sacral dimple	HP:0040283	OMIM:194190
7468	NSD2	HP:0000939	Osteoporosis	HP:0040283	ORPHA:280
7468	NSD2	HP:0000286	Epicanthus	1/1	OMIM:619695
7468	NSD2	HP:0000286	Epicanthus	HP:0040282	OMIM:194190
7468	NSD2	HP:0000286	Epicanthus	HP:0040281	ORPHA:280
7468	NSD2	HP:0000286	Epicanthus	1/7	OMIM:615777
7468	NSD2	HP:0000288	Abnormality of the philtrum	HP:0040281	ORPHA:280
7468	NSD2	HP:0000280	Coarse facial features	2/7	OMIM:615777
7468	NSD2	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:280
7468	NSD2	HP:0002827	Hip dislocation	-	OMIM:194190
7468	NSD2	HP:0002827	Hip dislocation	3/7	OMIM:615777
7468	NSD2	HP:0002808	Kyphosis	HP:0040282	ORPHA:280
7468	NSD2	HP:0002808	Kyphosis	HP:0040282	OMIM:194190
7468	NSD2	HP:0000238	Hydrocephalus	HP:0040283	OMIM:194190
7468	NSD2	HP:0000252	Microcephaly	6/6	OMIM:619695
7468	NSD2	HP:0000252	Microcephaly	HP:0040282	OMIM:194190
7468	NSD2	HP:0000252	Microcephaly	HP:0040281	ORPHA:280
7468	NSD2	HP:0000252	Microcephaly	-	OMIM:615777
7468	NSD2	HP:0000233	Thin vermilion border	1/1	OMIM:619695
7468	NSD2	HP:0001558	Decreased fetal movement	HP:0040281	ORPHA:280
7468	NSD2	HP:0001558	Decreased fetal movement	-	OMIM:194190
7468	NSD2	HP:0002857	Genu valgum	-	OMIM:131300
7468	NSD2	HP:0000202	Orofacial cleft	HP:0040282	OMIM:194190
7468	NSD2	HP:0001533	Slender build	-	OMIM:131300
7468	NSD2	HP:0000204	Cleft upper lip	HP:0040282	ORPHA:280
7468	NSD2	HP:0000204	Cleft upper lip	-	OMIM:194190
7468	NSD2	HP:0001508	Failure to thrive	3/4	OMIM:619695
7468	NSD2	HP:0001508	Failure to thrive	HP:0040282	OMIM:194190
7468	NSD2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:280
7468	NSD2	HP:0001519	Disproportionate tall stature	HP:0040283	ORPHA:280
7468	NSD2	HP:0001518	Small for gestational age	HP:0040281	OMIM:194190
7468	NSD2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:280
7468	NSD2	HP:0001511	Intrauterine growth retardation	6/6	OMIM:619695
7468	NSD2	HP:0001511	Intrauterine growth retardation	HP:0040281	OMIM:194190
7468	NSD2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7468	NSD2	HP:0001510	Growth delay	HP:0040281	OMIM:194190
7468	NSD2	HP:0007807	Optic nerve compression	-	OMIM:131300
7468	NSD2	HP:0000384	Preauricular skin tag	HP:0040282	OMIM:194190
7468	NSD2	HP:0012368	Flat face	7/7	OMIM:615777
7468	NSD2	HP:0000377	Abnormal pinna morphology	HP:0040282	OMIM:194190
7468	NSD2	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:280
7468	NSD2	HP:0005268	Miscarriage	1/1	OMIM:619695
7468	NSD2	HP:0005264	Abnormality of the gallbladder	HP:0040283	ORPHA:280
7468	NSD2	HP:0007874	Almond-shaped palpebral fissure	1/1	OMIM:619695
7468	NSD2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7468	NSD2	HP:0002948	Vertebral fusion	-	OMIM:194190
7468	NSD2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:280
7468	NSD2	HP:0000365	Hearing impairment	10/67	OMIM:131300
7468	NSD2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:280
7468	NSD2	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:280
7468	NSD2	HP:0000343	Long philtrum	1/1	OMIM:619695
7468	NSD2	HP:0000343	Long philtrum	1/7	OMIM:615777
7468	NSD2	HP:0011001	Increased bone mineral density	-	OMIM:131300
7468	NSD2	HP:0000348	High forehead	HP:0040281	ORPHA:280
7468	NSD2	HP:0000348	High forehead	HP:0040282	OMIM:194190
7468	NSD2	HP:0000348	High forehead	1/1	OMIM:619695
7468	NSD2	HP:0000347	Micrognathia	2/2	OMIM:619695
7468	NSD2	HP:0000347	Micrognathia	HP:0040282	OMIM:194190
7468	NSD2	HP:0000347	Micrognathia	HP:0040281	ORPHA:280
7468	NSD2	HP:0000316	Hypertelorism	3/4	OMIM:619695
7468	NSD2	HP:0000316	Hypertelorism	HP:0040282	OMIM:194190
7468	NSD2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:280
7468	NSD2	HP:0000311	Round face	2/7	OMIM:615777
7468	NSD2	HP:0002974	Radioulnar synostosis	-	OMIM:194190
7468	NSD2	HP:0000331	Short chin	1/1	OMIM:619695
7468	NSD2	HP:0001654	Abnormal heart valve morphology	HP:0040282	ORPHA:280
7468	NSD2	HP:0000322	Short philtrum	HP:0040281	ORPHA:280
7468	NSD2	HP:0000322	Short philtrum	HP:0040282	OMIM:194190
7468	NSD2	HP:0000322	Short philtrum	2/2	OMIM:619695
7468	NSD2	HP:0001629	Ventricular septal defect	-	OMIM:194190
7468	NSD2	HP:0002970	Genu varum	-	OMIM:615777
7468	NSD2	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:280
7468	NSD2	HP:0001631	Atrial septal defect	27%	OMIM:194190
7468	NSD2	HP:0000303	Mandibular prognathia	-	OMIM:131300
7468	NSD2	HP:0006610	Wide intermamillary distance	1/1	OMIM:619695
7468	NSD2	HP:0006655	Rib segmentation abnormalities	HP:0040282	ORPHA:280
7468	NSD2	HP:0006655	Rib segmentation abnormalities	HP:0040282	OMIM:194190
7468	NSD2	HP:0001738	Exocrine pancreatic insufficiency	1/3	OMIM:619695
7468	NSD2	HP:0000407	Sensorineural hearing impairment	15%	OMIM:194190
7468	NSD2	HP:0000405	Conductive hearing impairment	40%	OMIM:194190
7468	NSD2	HP:0000402	Stenosis of the external auditory canal	HP:0040282	OMIM:194190
7468	NSD2	HP:0005280	Depressed nasal bridge	1/1	OMIM:619695
7468	NSD2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7468	NSD2	HP:0000486	Strabismus	HP:0040282	OMIM:194190
7468	NSD2	HP:0000486	Strabismus	HP:0040283	ORPHA:280
7468	NSD2	HP:0000485	Megalocornea	HP:0040283	ORPHA:280
7468	NSD2	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:280
7468	NSD2	HP:0000488	Retinopathy	HP:0040283	ORPHA:280
7468	NSD2	HP:0012450	Chronic constipation	3/4	OMIM:619695
7468	NSD2	HP:0000470	Short neck	1/7	OMIM:615777
7468	NSD2	HP:0000465	Webbed neck	HP:0040283	OMIM:194190
7468	NSD2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7468	NSD2	HP:0001763	Pes planus	1/7	OMIM:615777
7468	NSD2	HP:0000444	Convex nasal ridge	HP:0040282	OMIM:194190
7468	NSD2	HP:0001747	Accessory spleen	-	OMIM:194190
7468	NSD2	HP:0000411	Protruding ear	2/2	OMIM:619695
7468	NSD2	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:280
7468	NSD2	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:280
7468	NSD2	HP:0001762	Talipes equinovarus	HP:0040282	OMIM:194190
7468	NSD2	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:280
7468	NSD2	HP:0000431	Wide nasal bridge	5/7	OMIM:619695
7468	NSD2	HP:0000431	Wide nasal bridge	HP:0040282	OMIM:194190
7468	NSD2	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040282	ORPHA:280
7468	NSD2	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040283	ORPHA:280
7468	NSD2	HP:0001841	Preaxial foot polydactyly	HP:0040283	OMIM:194190
7468	NSD2	HP:0001840	Metatarsus adductus	-	OMIM:615777
7468	NSD2	HP:0001840	Metatarsus adductus	-	OMIM:194190
7468	NSD2	HP:0000520	Proptosis	2/4	OMIM:131300
7468	NSD2	HP:0000520	Proptosis	HP:0040283	ORPHA:280
7468	NSD2	HP:0000520	Proptosis	HP:0040282	OMIM:194190
7468	NSD2	HP:0000520	Proptosis	7/7	OMIM:615777
7468	NSD2	HP:0000506	Telecanthus	1/1	OMIM:619695
7468	NSD2	HP:0000508	Ptosis	HP:0040282	OMIM:194190
7468	NSD2	HP:0000508	Ptosis	HP:0040282	ORPHA:280
7468	NSD2	HP:0000501	Glaucoma	HP:0040283	ORPHA:280
7468	NSD2	HP:0001812	Hyperconvex fingernails	-	OMIM:194190
7468	NSD2	HP:0012584	Bilateral renal hypoplasia	1/3	OMIM:619695
7468	NSD2	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:619695
7468	NSD2	HP:0000592	Blue sclerae	2/7	OMIM:615777
7468	NSD2	HP:0011220	Prominent forehead	1/3	OMIM:619695
7468	NSD2	HP:0000558	Rieger anomaly	HP:0040282	OMIM:194190
7468	NSD2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7468	NSD2	HP:0012514	Lower limb pain	4/4	OMIM:131300
7469	NELFA	HP:0001177	Preaxial hand polydactyly	HP:0040282	ORPHA:280
7469	NELFA	HP:0001171	Split hand	HP:0040282	ORPHA:280
7469	NELFA	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:280
7469	NELFA	HP:0009890	High anterior hairline	HP:0040281	ORPHA:280
7469	NELFA	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:280
7469	NELFA	HP:0008551	Microtia	HP:0040281	ORPHA:280
7469	NELFA	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280
7469	NELFA	HP:0001250	Seizure	HP:0040281	ORPHA:280
7469	NELFA	HP:0001252	Hypotonia	HP:0040281	ORPHA:280
7469	NELFA	HP:0001251	Ataxia	HP:0040281	ORPHA:280
7469	NELFA	HP:0001263	Global developmental delay	HP:0040281	ORPHA:280
7469	NELFA	HP:0007385	Aplasia cutis congenita of scalp	HP:0040282	ORPHA:280
7469	NELFA	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:280
7469	NELFA	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:280
7469	NELFA	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:280
7469	NELFA	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:280
7469	NELFA	HP:0000078	Abnormality of the genital system	HP:0040283	ORPHA:280
7469	NELFA	HP:0000047	Hypospadias	HP:0040281	ORPHA:280
7469	NELFA	HP:0001362	Calvarial skull defect	HP:0040282	ORPHA:280
7469	NELFA	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:280
7469	NELFA	HP:0008830	Hypoplastic pubic ramus	HP:0040282	ORPHA:280
7469	NELFA	HP:0002650	Scoliosis	HP:0040282	ORPHA:280
7469	NELFA	HP:0000159	Abnormal lip morphology	HP:0040281	ORPHA:280
7469	NELFA	HP:0000175	Cleft palate	HP:0040283	ORPHA:280
7469	NELFA	HP:0000153	Abnormality of the mouth	HP:0040281	ORPHA:280
7469	NELFA	HP:0000151	Aplasia of the uterus	HP:0040283	ORPHA:280
7469	NELFA	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:280
7469	NELFA	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:280
7469	NELFA	HP:0002714	Downturned corners of mouth	HP:0040281	ORPHA:280
7469	NELFA	HP:0002720	Decreased circulating IgA concentration	HP:0040282	ORPHA:280
7469	NELFA	HP:0003363	Abdominal situs inversus	HP:0040283	ORPHA:280
7469	NELFA	HP:0002007	Frontal bossing	HP:0040281	ORPHA:280
7469	NELFA	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:280
7469	NELFA	HP:0010464	Streak ovary	HP:0040283	ORPHA:280
7469	NELFA	HP:0002144	Tethered cord	HP:0040282	ORPHA:280
7469	NELFA	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280
7469	NELFA	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:280
7469	NELFA	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:280
7469	NELFA	HP:0100790	Hernia	HP:0040283	ORPHA:280
7469	NELFA	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:280
7469	NELFA	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:280
7469	NELFA	HP:0001028	Hemangioma	HP:0040282	ORPHA:280
7469	NELFA	HP:0009778	Short thumb	HP:0040282	ORPHA:280
7469	NELFA	HP:0000639	Nystagmus	HP:0040283	ORPHA:280
7469	NELFA	HP:0000648	Optic atrophy	HP:0040282	ORPHA:280
7469	NELFA	HP:0000647	Sclerocornea	HP:0040283	ORPHA:280
7469	NELFA	HP:0000612	Iris coloboma	HP:0040282	ORPHA:280
7469	NELFA	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:280
7469	NELFA	HP:0000679	Taurodontia	HP:0040282	ORPHA:280
7469	NELFA	HP:0000668	Hypodontia	HP:0040281	ORPHA:280
7469	NELFA	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:280
7469	NELFA	HP:0100022	Abnormality of movement	HP:0040283	ORPHA:280
7469	NELFA	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:280
7469	NELFA	HP:0010109	Short hallux	HP:0040282	ORPHA:280
7469	NELFA	HP:0000776	Congenital diaphragmatic hernia	HP:0040282	ORPHA:280
7469	NELFA	HP:0000925	Abnormality of the vertebral column	HP:0040282	ORPHA:280
7469	NELFA	HP:0000902	Rib fusion	HP:0040282	ORPHA:280
7469	NELFA	HP:0004467	Preauricular pit	HP:0040282	ORPHA:280
7469	NELFA	HP:0000958	Dry skin	HP:0040282	ORPHA:280
7469	NELFA	HP:0000960	Sacral dimple	HP:0040282	ORPHA:280
7469	NELFA	HP:0000939	Osteoporosis	HP:0040283	ORPHA:280
7469	NELFA	HP:0000286	Epicanthus	HP:0040281	ORPHA:280
7469	NELFA	HP:0000288	Abnormality of the philtrum	HP:0040281	ORPHA:280
7469	NELFA	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:280
7469	NELFA	HP:0002808	Kyphosis	HP:0040282	ORPHA:280
7469	NELFA	HP:0000252	Microcephaly	HP:0040281	ORPHA:280
7469	NELFA	HP:0001558	Decreased fetal movement	HP:0040281	ORPHA:280
7469	NELFA	HP:0000204	Cleft upper lip	HP:0040282	ORPHA:280
7469	NELFA	HP:0001508	Failure to thrive	HP:0040281	ORPHA:280
7469	NELFA	HP:0001519	Disproportionate tall stature	HP:0040283	ORPHA:280
7469	NELFA	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:280
7469	NELFA	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:280
7469	NELFA	HP:0005264	Abnormality of the gallbladder	HP:0040283	ORPHA:280
7469	NELFA	HP:0000365	Hearing impairment	HP:0040282	ORPHA:280
7469	NELFA	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:280
7469	NELFA	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:280
7469	NELFA	HP:0000348	High forehead	HP:0040281	ORPHA:280
7469	NELFA	HP:0000347	Micrognathia	HP:0040281	ORPHA:280
7469	NELFA	HP:0000316	Hypertelorism	HP:0040281	ORPHA:280
7469	NELFA	HP:0001654	Abnormal heart valve morphology	HP:0040282	ORPHA:280
7469	NELFA	HP:0000322	Short philtrum	HP:0040281	ORPHA:280
7469	NELFA	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:280
7469	NELFA	HP:0006655	Rib segmentation abnormalities	HP:0040282	ORPHA:280
7469	NELFA	HP:0000486	Strabismus	HP:0040283	ORPHA:280
7469	NELFA	HP:0000485	Megalocornea	HP:0040283	ORPHA:280
7469	NELFA	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:280
7469	NELFA	HP:0000488	Retinopathy	HP:0040283	ORPHA:280
7469	NELFA	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:280
7469	NELFA	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:280
7469	NELFA	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:280
7469	NELFA	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040282	ORPHA:280
7469	NELFA	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040283	ORPHA:280
7469	NELFA	HP:0000520	Proptosis	HP:0040283	ORPHA:280
7469	NELFA	HP:0000508	Ptosis	HP:0040282	ORPHA:280
7469	NELFA	HP:0000501	Glaucoma	HP:0040283	ORPHA:280
7471	WNT1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7471	WNT1	HP:0001293	Cranial nerve compression	-	OMIM:131300
7471	WNT1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:85193
7471	WNT1	HP:0001256	Intellectual disability, mild	-	OMIM:259770
7471	WNT1	HP:0001252	Hypotonia	-	OMIM:259770
7471	WNT1	HP:0001252	Hypotonia	2/7	OMIM:615777
7471	WNT1	HP:0001249	Intellectual disability	5/7	OMIM:615777
7471	WNT1	HP:0001263	Global developmental delay	1/9	OMIM:615220
7471	WNT1	HP:0001263	Global developmental delay	1/1	OMIM:612394
7471	WNT1	HP:0001263	Global developmental delay	-	OMIM:615777
7471	WNT1	HP:0002515	Waddling gait	54/102	OMIM:131300
7471	WNT1	HP:0001382	Joint hypermobility	-	OMIM:259770
7471	WNT1	HP:0001382	Joint hypermobility	-	OMIM:615777
7471	WNT1	HP:0001382	Joint hypermobility	3/9	OMIM:615220
7471	WNT1	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
7471	WNT1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7471	WNT1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7471	WNT1	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
7471	WNT1	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
7471	WNT1	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
7471	WNT1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7471	WNT1	HP:0001324	Muscle weakness	40/96	OMIM:131300
7471	WNT1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7471	WNT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615220
7471	WNT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
7471	WNT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7471	WNT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
7471	WNT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7471	WNT1	HP:0002653	Bone pain	HP:0040281	ORPHA:85193
7471	WNT1	HP:0002650	Scoliosis	1/5	OMIM:259770
7471	WNT1	HP:0002650	Scoliosis	1/1	OMIM:612394
7471	WNT1	HP:0002650	Scoliosis	-	OMIM:615220
7471	WNT1	HP:0002650	Scoliosis	12/14	OMIM:131300
7471	WNT1	HP:0001321	Cerebellar hypoplasia	-	OMIM:615220
7471	WNT1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7471	WNT1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7471	WNT1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7471	WNT1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7471	WNT1	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
7471	WNT1	HP:0000175	Cleft palate	2/7	OMIM:615777
7471	WNT1	HP:0012110	Hypoplasia of the pons	-	OMIM:615220
7471	WNT1	HP:0002757	Recurrent fractures	4/5	OMIM:259770
7471	WNT1	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:85193
7471	WNT1	HP:0002757	Recurrent fractures	9/9	OMIM:615220
7471	WNT1	HP:0002756	Pathologic fracture	-	OMIM:259770
7471	WNT1	HP:0002756	Pathologic fracture	1/1	OMIM:612394
7471	WNT1	HP:0002751	Kyphoscoliosis	-	OMIM:259770
7471	WNT1	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
7471	WNT1	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
7471	WNT1	HP:0003388	Easy fatigability	36/76	OMIM:131300
7471	WNT1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7471	WNT1	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
7471	WNT1	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
7471	WNT1	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
7471	WNT1	HP:0002164	Nail dysplasia	1/1	OMIM:612394
7471	WNT1	HP:0010557	Overlapping fingers	1/2	OMIM:612394
7471	WNT1	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
7471	WNT1	HP:0003593	Infantile onset	1/5	OMIM:259770
7471	WNT1	HP:0003577	Congenital onset	4/5	OMIM:259770
7471	WNT1	HP:0002208	Coarse hair	1/1	OMIM:612394
7471	WNT1	HP:0010636	Schizencephaly	-	OMIM:615220
7471	WNT1	HP:0003510	Severe short stature	7/7	OMIM:615777
7471	WNT1	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
7471	WNT1	HP:0025019	Arterial rupture	1/1	OMIM:612394
7471	WNT1	HP:0002315	Headache	-	OMIM:131300
7471	WNT1	HP:0004976	Knee dislocation	6/7	OMIM:615777
7471	WNT1	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
7471	WNT1	HP:0009803	Short phalanx of finger	-	OMIM:615777
7471	WNT1	HP:0001089	Iris atrophy	-	OMIM:259770
7471	WNT1	HP:0009763	Limb pain	63/92	OMIM:131300
7471	WNT1	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
7471	WNT1	HP:0003621	Juvenile onset	-	OMIM:131300
7471	WNT1	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
7471	WNT1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7471	WNT1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7471	WNT1	HP:6001056	Out-toeing	-	OMIM:131300
7471	WNT1	HP:0000651	Diplopia	-	OMIM:131300
7471	WNT1	HP:0000618	Blindness	5/5	OMIM:259770
7471	WNT1	HP:0001956	Truncal obesity	2/7	OMIM:615777
7471	WNT1	HP:0001903	Anemia	HP:0040283	OMIM:131300
7471	WNT1	HP:0010049	Short metacarpal	-	OMIM:615777
7471	WNT1	HP:0000678	Dental crowding	-	OMIM:615777
7471	WNT1	HP:0000670	Carious teeth	-	OMIM:131300
7471	WNT1	HP:0011304	Broad thumb	2/7	OMIM:615777
7471	WNT1	HP:0000668	Hypodontia	-	OMIM:615777
7471	WNT1	HP:0000667	Phthisis bulbi	-	OMIM:259770
7471	WNT1	HP:0000664	Synophrys	-	OMIM:615777
7471	WNT1	HP:0004322	Short stature	-	OMIM:615220
7471	WNT1	HP:0004322	Short stature	-	OMIM:259770
7471	WNT1	HP:0004396	Poor appetite	-	OMIM:131300
7471	WNT1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7471	WNT1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7471	WNT1	HP:0003016	Metaphyseal widening	-	OMIM:259770
7471	WNT1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7471	WNT1	HP:0003026	Short long bone	7/7	OMIM:615777
7471	WNT1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7471	WNT1	HP:0003023	Bowing of limbs due to multiple fractures	9/9	OMIM:615220
7471	WNT1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7471	WNT1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7471	WNT1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7471	WNT1	HP:0000750	Delayed speech and language development	-	OMIM:615777
7471	WNT1	HP:0011461	Fetal onset	7/7	OMIM:615777
7471	WNT1	HP:0011461	Fetal onset	2/2	OMIM:612394
7471	WNT1	HP:0000774	Narrow chest	2/7	OMIM:615777
7471	WNT1	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
7471	WNT1	HP:0003196	Short nose	1/1	OMIM:612394
7471	WNT1	HP:0000926	Platyspondyly	-	OMIM:259770
7471	WNT1	HP:0000926	Platyspondyly	1/7	OMIM:615777
7471	WNT1	HP:0000926	Platyspondyly	1/1	OMIM:612394
7471	WNT1	HP:0000926	Platyspondyly	-	OMIM:615220
7471	WNT1	HP:0003180	Flat acetabular roof	-	OMIM:615777
7471	WNT1	HP:0004482	Relative macrocephaly	-	OMIM:615777
7471	WNT1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7471	WNT1	HP:0000883	Thin ribs	-	OMIM:615220
7471	WNT1	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
7471	WNT1	HP:0000823	Delayed puberty	-	OMIM:131300
7471	WNT1	HP:0000894	Short clavicles	-	OMIM:615777
7471	WNT1	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
7471	WNT1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7471	WNT1	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
7471	WNT1	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
7471	WNT1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7471	WNT1	HP:0000939	Osteoporosis	HP:0040281	ORPHA:85193
7471	WNT1	HP:0000939	Osteoporosis	4/5	OMIM:259770
7471	WNT1	HP:0000938	Osteopenia	1/5	OMIM:259770
7471	WNT1	HP:0000938	Osteopenia	1/1	OMIM:612394
7471	WNT1	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
7471	WNT1	HP:0000286	Epicanthus	1/7	OMIM:615777
7471	WNT1	HP:0000280	Coarse facial features	2/7	OMIM:615777
7471	WNT1	HP:0000272	Malar flattening	1/1	OMIM:612394
7471	WNT1	HP:0007773	Vitreoretinopathy	-	OMIM:259770
7471	WNT1	HP:0002827	Hip dislocation	3/7	OMIM:615777
7471	WNT1	HP:0002808	Kyphosis	HP:0040283	ORPHA:85193
7471	WNT1	HP:0002808	Kyphosis	1/5	OMIM:259770
7471	WNT1	HP:0000252	Microcephaly	-	OMIM:259770
7471	WNT1	HP:0000252	Microcephaly	-	OMIM:615777
7471	WNT1	HP:0001552	Barrel-shaped chest	-	OMIM:259770
7471	WNT1	HP:0002857	Genu valgum	-	OMIM:131300
7471	WNT1	HP:0001533	Slender build	-	OMIM:131300
7471	WNT1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7471	WNT1	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
7471	WNT1	HP:0007807	Optic nerve compression	-	OMIM:131300
7471	WNT1	HP:0012368	Flat face	7/7	OMIM:615777
7471	WNT1	HP:0012368	Flat face	1/1	OMIM:612394
7471	WNT1	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
7471	WNT1	HP:0007875	Congenital blindness	4/5	OMIM:259770
7471	WNT1	HP:0007862	Retinal calcification	1/5	OMIM:259770
7471	WNT1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7471	WNT1	HP:0000365	Hearing impairment	10/67	OMIM:131300
7471	WNT1	HP:0000369	Low-set ears	2/2	OMIM:612394
7471	WNT1	HP:0000343	Long philtrum	1/7	OMIM:615777
7471	WNT1	HP:0011001	Increased bone mineral density	-	OMIM:131300
7471	WNT1	HP:0002982	Tibial bowing	1/5	OMIM:259770
7471	WNT1	HP:0000311	Round face	2/7	OMIM:615777
7471	WNT1	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
7471	WNT1	HP:0001629	Ventricular septal defect	-	OMIM:259770
7471	WNT1	HP:0002953	Vertebral compression fracture	HP:0040282	ORPHA:85193
7471	WNT1	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
7471	WNT1	HP:0002970	Genu varum	-	OMIM:615777
7471	WNT1	HP:0000307	Pointed chin	1/2	OMIM:612394
7471	WNT1	HP:0000303	Mandibular prognathia	-	OMIM:131300
7471	WNT1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
7471	WNT1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7471	WNT1	HP:0000463	Anteverted nares	1/1	OMIM:612394
7471	WNT1	HP:0000470	Short neck	1/7	OMIM:615777
7471	WNT1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7471	WNT1	HP:0001763	Pes planus	1/7	OMIM:615777
7471	WNT1	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
7471	WNT1	HP:0000518	Cataract	1/5	OMIM:259770
7471	WNT1	HP:0000518	Cataract	1/1	OMIM:612394
7471	WNT1	HP:0001840	Metatarsus adductus	-	OMIM:615777
7471	WNT1	HP:0000520	Proptosis	2/4	OMIM:131300
7471	WNT1	HP:0000520	Proptosis	7/7	OMIM:615777
7471	WNT1	HP:0000592	Blue sclerae	2/7	OMIM:615777
7471	WNT1	HP:0000592	Blue sclerae	6/9	OMIM:615220
7471	WNT1	HP:0000586	Shallow orbits	1/1	OMIM:612394
7471	WNT1	HP:0000568	Microphthalmia	1/5	OMIM:259770
7471	WNT1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7471	WNT1	HP:0012514	Lower limb pain	4/4	OMIM:131300
7471	WNT1	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
7471	WNT1	HP:0000545	Myopia	1/1	OMIM:612394
7473	WNT3	HP:0009932	Single naris	1/3	OMIM:273395
7473	WNT3	HP:0001195	Single umbilical artery	1/3	OMIM:273395
7473	WNT3	HP:0009924	Aplasia/Hypoplasia involving the nose	HP:0040281	ORPHA:3301
7473	WNT3	HP:0008551	Microtia	HP:0040281	ORPHA:3301
7473	WNT3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7473	WNT3	HP:0001293	Cranial nerve compression	-	OMIM:131300
7473	WNT3	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:3301
7473	WNT3	HP:0001252	Hypotonia	2/7	OMIM:615777
7473	WNT3	HP:0001249	Intellectual disability	5/7	OMIM:615777
7473	WNT3	HP:0001263	Global developmental delay	-	OMIM:615777
7473	WNT3	HP:0100842	Septo-optic dysplasia	HP:0040282	ORPHA:3301
7473	WNT3	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:3301
7473	WNT3	HP:0008697	Hypoplasia of the fallopian tube	1/2	OMIM:273395
7473	WNT3	HP:0002515	Waddling gait	54/102	OMIM:131300
7473	WNT3	HP:0000068	Urethral atresia	1/3	OMIM:273395
7473	WNT3	HP:0000046	Small scrotum	HP:0040282	ORPHA:3301
7473	WNT3	HP:0000042	Absent external genitalia	1/1	OMIM:273395
7473	WNT3	HP:0001382	Joint hypermobility	-	OMIM:615777
7473	WNT3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7473	WNT3	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3301
7473	WNT3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7473	WNT3	HP:0008839	Hypoplastic pelvis	2/3	OMIM:273395
7473	WNT3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7473	WNT3	HP:0001324	Muscle weakness	40/96	OMIM:131300
7473	WNT3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7473	WNT3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7473	WNT3	HP:0000007	Autosomal recessive inheritance	-	OMIM:273395
7473	WNT3	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:3301
7473	WNT3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7473	WNT3	HP:0002650	Scoliosis	12/14	OMIM:131300
7473	WNT3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7473	WNT3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7473	WNT3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7473	WNT3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7473	WNT3	HP:0000160	Narrow mouth	HP:0040282	ORPHA:3301
7473	WNT3	HP:0000175	Cleft palate	2/7	OMIM:615777
7473	WNT3	HP:0000175	Cleft palate	2/3	OMIM:273395
7473	WNT3	HP:0000148	Vaginal atresia	1/2	OMIM:273395
7473	WNT3	HP:0000148	Vaginal atresia	HP:0040282	ORPHA:3301
7473	WNT3	HP:0002777	Tracheal stenosis	HP:0040282	ORPHA:3301
7473	WNT3	HP:0000104	Renal agenesis	2/3	OMIM:273395
7473	WNT3	HP:0002023	Anal atresia	HP:0040282	ORPHA:3301
7473	WNT3	HP:0002023	Anal atresia	1/3	OMIM:273395
7473	WNT3	HP:0002089	Pulmonary hypoplasia	-	OMIM:273395
7473	WNT3	HP:0003388	Easy fatigability	36/76	OMIM:131300
7473	WNT3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7473	WNT3	HP:0011743	Adrenal gland agenesis	1/3	OMIM:273395
7473	WNT3	HP:0100569	Abnormally ossified vertebrae	HP:0040282	ORPHA:3301
7473	WNT3	HP:0010494	Acromelia of the lower limbs	HP:0040282	ORPHA:3301
7473	WNT3	HP:0002101	Abnormal lung lobation	HP:0040282	ORPHA:3301
7473	WNT3	HP:0003510	Severe short stature	7/7	OMIM:615777
7473	WNT3	HP:0002315	Headache	-	OMIM:131300
7473	WNT3	HP:0004976	Knee dislocation	6/7	OMIM:615777
7473	WNT3	HP:0009812	Amelia involving the upper limbs	HP:0040282	ORPHA:3301
7473	WNT3	HP:0009803	Short phalanx of finger	-	OMIM:615777
7473	WNT3	HP:0009763	Limb pain	63/92	OMIM:131300
7473	WNT3	HP:0003621	Juvenile onset	-	OMIM:131300
7473	WNT3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7473	WNT3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7473	WNT3	HP:6001056	Out-toeing	-	OMIM:131300
7473	WNT3	HP:0000651	Diplopia	-	OMIM:131300
7473	WNT3	HP:0000648	Optic atrophy	HP:0040282	ORPHA:3301
7473	WNT3	HP:0000612	Iris coloboma	HP:0040282	ORPHA:3301
7473	WNT3	HP:0001956	Truncal obesity	2/7	OMIM:615777
7473	WNT3	HP:0001903	Anemia	HP:0040283	OMIM:131300
7473	WNT3	HP:0010049	Short metacarpal	-	OMIM:615777
7473	WNT3	HP:0000678	Dental crowding	-	OMIM:615777
7473	WNT3	HP:0000670	Carious teeth	-	OMIM:131300
7473	WNT3	HP:0011304	Broad thumb	2/7	OMIM:615777
7473	WNT3	HP:0000668	Hypodontia	-	OMIM:615777
7473	WNT3	HP:0000664	Synophrys	-	OMIM:615777
7473	WNT3	HP:0003057	Tetraamelia	4/4	OMIM:273395
7473	WNT3	HP:0003057	Tetraamelia	HP:0040281	ORPHA:3301
7473	WNT3	HP:0004396	Poor appetite	-	OMIM:131300
7473	WNT3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7473	WNT3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7473	WNT3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7473	WNT3	HP:0003026	Short long bone	7/7	OMIM:615777
7473	WNT3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7473	WNT3	HP:0009103	Aplasia/Hypoplasia involving the pelvis	HP:0040281	ORPHA:3301
7473	WNT3	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:3301
7473	WNT3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7473	WNT3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7473	WNT3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7473	WNT3	HP:0000750	Delayed speech and language development	-	OMIM:615777
7473	WNT3	HP:0011461	Fetal onset	7/7	OMIM:615777
7473	WNT3	HP:0011461	Fetal onset	4/4	OMIM:273395
7473	WNT3	HP:0000782	Abnormal scapula morphology	0/3	OMIM:273395
7473	WNT3	HP:0000774	Narrow chest	2/7	OMIM:615777
7473	WNT3	HP:0000776	Congenital diaphragmatic hernia	1/3	OMIM:273395
7473	WNT3	HP:0000926	Platyspondyly	1/7	OMIM:615777
7473	WNT3	HP:0000921	Missing ribs	HP:0040282	ORPHA:3301
7473	WNT3	HP:0003180	Flat acetabular roof	-	OMIM:615777
7473	WNT3	HP:0004482	Relative macrocephaly	-	OMIM:615777
7473	WNT3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7473	WNT3	HP:0000889	Abnormal clavicle morphology	0/3	OMIM:273395
7473	WNT3	HP:0100335	Non-midline cleft of the upper lip	HP:0040282	ORPHA:3301
7473	WNT3	HP:0000823	Delayed puberty	-	OMIM:131300
7473	WNT3	HP:0000894	Short clavicles	-	OMIM:615777
7473	WNT3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7473	WNT3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7473	WNT3	HP:0000286	Epicanthus	1/7	OMIM:615777
7473	WNT3	HP:0000280	Coarse facial features	2/7	OMIM:615777
7473	WNT3	HP:0000293	Full cheeks	HP:0040282	ORPHA:3301
7473	WNT3	HP:0002827	Hip dislocation	3/7	OMIM:615777
7473	WNT3	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:3301
7473	WNT3	HP:0000238	Hydrocephalus	-	OMIM:273395
7473	WNT3	HP:0000252	Microcephaly	-	OMIM:615777
7473	WNT3	HP:0001543	Gastroschisis	1/3	OMIM:273395
7473	WNT3	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:3301
7473	WNT3	HP:0002857	Genu valgum	-	OMIM:131300
7473	WNT3	HP:0000202	Orofacial cleft	HP:0040281	ORPHA:3301
7473	WNT3	HP:0001533	Slender build	-	OMIM:131300
7473	WNT3	HP:0000204	Cleft upper lip	2/3	OMIM:273395
7473	WNT3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7473	WNT3	HP:0007807	Optic nerve compression	-	OMIM:131300
7473	WNT3	HP:0012368	Flat face	7/7	OMIM:615777
7473	WNT3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7473	WNT3	HP:0001600	Abnormality of the larynx	HP:0040282	ORPHA:3301
7473	WNT3	HP:0000365	Hearing impairment	10/67	OMIM:131300
7473	WNT3	HP:0000369	Low-set ears	-	OMIM:273395
7473	WNT3	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:3301
7473	WNT3	HP:0000343	Long philtrum	1/7	OMIM:615777
7473	WNT3	HP:0011001	Increased bone mineral density	-	OMIM:131300
7473	WNT3	HP:0000347	Micrognathia	-	OMIM:273395
7473	WNT3	HP:0000347	Micrognathia	HP:0040282	ORPHA:3301
7473	WNT3	HP:0000311	Round face	2/7	OMIM:615777
7473	WNT3	HP:0002970	Genu varum	-	OMIM:615777
7473	WNT3	HP:0000303	Mandibular prognathia	-	OMIM:131300
7473	WNT3	HP:0005316	Peripheral pulmonary vessel aplasia	-	OMIM:273395
7473	WNT3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7473	WNT3	HP:0000482	Microcornea	HP:0040282	ORPHA:3301
7473	WNT3	HP:0000470	Short neck	1/7	OMIM:615777
7473	WNT3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7473	WNT3	HP:0001763	Pes planus	1/7	OMIM:615777
7473	WNT3	HP:0000453	Choanal atresia	1/3	OMIM:273395
7473	WNT3	HP:0001746	Asplenia	1/3	OMIM:273395
7473	WNT3	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040281	ORPHA:3301
7473	WNT3	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040282	ORPHA:3301
7473	WNT3	HP:0000518	Cataract	HP:0040282	ORPHA:3301
7473	WNT3	HP:0000518	Cataract	1/3	OMIM:273395
7473	WNT3	HP:0001840	Metatarsus adductus	-	OMIM:615777
7473	WNT3	HP:0000520	Proptosis	2/4	OMIM:131300
7473	WNT3	HP:0000520	Proptosis	7/7	OMIM:615777
7473	WNT3	HP:0000592	Blue sclerae	2/7	OMIM:615777
7473	WNT3	HP:0000568	Microphthalmia	HP:0040282	ORPHA:3301
7473	WNT3	HP:0000568	Microphthalmia	1/3	OMIM:273395
7473	WNT3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7473	WNT3	HP:0012514	Lower limb pain	4/4	OMIM:131300
7474	WNT5A	HP:0001156	Brachydactyly	6/6	OMIM:180700
7474	WNT5A	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3107
7474	WNT5A	HP:0009883	Duplication of the distal phalanx of hand	-	OMIM:180700
7474	WNT5A	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7474	WNT5A	HP:0001293	Cranial nerve compression	-	OMIM:131300
7474	WNT5A	HP:0001252	Hypotonia	2/7	OMIM:615777
7474	WNT5A	HP:0001249	Intellectual disability	-	OMIM:180700
7474	WNT5A	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0001249	Intellectual disability	5/7	OMIM:615777
7474	WNT5A	HP:0001263	Global developmental delay	-	OMIM:180700
7474	WNT5A	HP:0001263	Global developmental delay	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0001263	Global developmental delay	-	OMIM:615777
7474	WNT5A	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:3107
7474	WNT5A	HP:0002515	Waddling gait	54/102	OMIM:131300
7474	WNT5A	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0000060	Clitoral hypoplasia	-	OMIM:180700
7474	WNT5A	HP:0000059	Hypoplastic labia majora	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0000059	Hypoplastic labia majora	-	OMIM:180700
7474	WNT5A	HP:0000075	Renal duplication	-	OMIM:180700
7474	WNT5A	HP:0000036	Abnormal penis morphology	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0000039	Epispadias	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0000054	Micropenis	-	OMIM:180700
7474	WNT5A	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0001382	Joint hypermobility	-	OMIM:615777
7474	WNT5A	HP:0000047	Hypospadias	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0000023	Inguinal hernia	-	OMIM:180700
7474	WNT5A	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7474	WNT5A	HP:0000028	Cryptorchidism	-	OMIM:180700
7474	WNT5A	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7474	WNT5A	HP:0001328	Specific learning disability	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7474	WNT5A	HP:0001324	Muscle weakness	40/96	OMIM:131300
7474	WNT5A	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7474	WNT5A	HP:0002673	Coxa valga	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7474	WNT5A	HP:0000006	Autosomal dominant inheritance	-	OMIM:180700
7474	WNT5A	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7474	WNT5A	HP:0002650	Scoliosis	12/14	OMIM:131300
7474	WNT5A	HP:0002650	Scoliosis	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7474	WNT5A	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7474	WNT5A	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7474	WNT5A	HP:0000189	Narrow palate	-	OMIM:180700
7474	WNT5A	HP:0008905	Rhizomelia	-	OMIM:180700
7474	WNT5A	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7474	WNT5A	HP:0000158	Macroglossia	-	OMIM:180700
7474	WNT5A	HP:0000175	Cleft palate	2/7	OMIM:615777
7474	WNT5A	HP:0000168	Abnormality of the gingiva	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0007665	Curly eyelashes	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0006335	Persistence of primary teeth	2/6	OMIM:180700
7474	WNT5A	HP:0002705	High, narrow palate	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0000126	Hydronephrosis	-	OMIM:180700
7474	WNT5A	HP:0002750	Delayed skeletal maturation	-	OMIM:180700
7474	WNT5A	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0002714	Downturned corners of mouth	-	OMIM:180700
7474	WNT5A	HP:0002007	Frontal bossing	-	OMIM:180700
7474	WNT5A	HP:0002007	Frontal bossing	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0011800	Midface retrusion	-	OMIM:180700
7474	WNT5A	HP:0011800	Midface retrusion	HP:0040281	ORPHA:3107
7474	WNT5A	HP:0100541	Femoral hernia	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0003388	Easy fatigability	36/76	OMIM:131300
7474	WNT5A	HP:0009466	Radial deviation of finger	-	OMIM:180700
7474	WNT5A	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7474	WNT5A	HP:0002164	Nail dysplasia	-	OMIM:180700
7474	WNT5A	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0003577	Congenital onset	6/6	OMIM:180700
7474	WNT5A	HP:0008402	Ridged fingernail	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0100798	Fingernail dysplasia	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0003510	Severe short stature	7/7	OMIM:615777
7474	WNT5A	HP:0003510	Severe short stature	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0001052	Nevus flammeus	-	OMIM:180700
7474	WNT5A	HP:0002315	Headache	-	OMIM:131300
7474	WNT5A	HP:0004976	Knee dislocation	6/7	OMIM:615777
7474	WNT5A	HP:0010807	Open bite	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0009803	Short phalanx of finger	-	OMIM:615777
7474	WNT5A	HP:0200055	Small hand	-	OMIM:180700
7474	WNT5A	HP:0009763	Limb pain	63/92	OMIM:131300
7474	WNT5A	HP:0010733	Naevus flammeus of the eyelid	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0003621	Juvenile onset	-	OMIM:131300
7474	WNT5A	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7474	WNT5A	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0009099	Median cleft palate	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0004279	Short palm	HP:0040281	ORPHA:3107
7474	WNT5A	HP:0004279	Short palm	-	OMIM:180700
7474	WNT5A	HP:0004220	Short middle phalanx of the 5th finger	-	OMIM:180700
7474	WNT5A	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7474	WNT5A	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0000637	Long palpebral fissure	-	OMIM:180700
7474	WNT5A	HP:6001056	Out-toeing	-	OMIM:131300
7474	WNT5A	HP:0000651	Diplopia	-	OMIM:131300
7474	WNT5A	HP:0001956	Truncal obesity	2/7	OMIM:615777
7474	WNT5A	HP:0001903	Anemia	HP:0040283	OMIM:131300
7474	WNT5A	HP:0010049	Short metacarpal	-	OMIM:615777
7474	WNT5A	HP:0000684	Delayed eruption of teeth	-	OMIM:180700
7474	WNT5A	HP:0000678	Dental crowding	-	OMIM:615777
7474	WNT5A	HP:0000678	Dental crowding	-	OMIM:180700
7474	WNT5A	HP:0000674	Anodontia	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0000677	Oligodontia	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0000670	Carious teeth	-	OMIM:131300
7474	WNT5A	HP:0011304	Broad thumb	2/7	OMIM:615777
7474	WNT5A	HP:0011304	Broad thumb	-	OMIM:180700
7474	WNT5A	HP:0000668	Hypodontia	-	OMIM:615777
7474	WNT5A	HP:0000668	Hypodontia	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0000664	Synophrys	-	OMIM:615777
7474	WNT5A	HP:0004322	Short stature	6/6	OMIM:180700
7474	WNT5A	HP:0004322	Short stature	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0003083	Dislocated radial head	2/6	OMIM:180700
7474	WNT5A	HP:0004396	Poor appetite	-	OMIM:131300
7474	WNT5A	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7474	WNT5A	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7474	WNT5A	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7474	WNT5A	HP:0003026	Short long bone	7/7	OMIM:615777
7474	WNT5A	HP:0003026	Short long bone	5/6	OMIM:180700
7474	WNT5A	HP:0003027	Mesomelia	-	OMIM:180700
7474	WNT5A	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7474	WNT5A	HP:0000767	Pectus excavatum	-	OMIM:180700
7474	WNT5A	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7474	WNT5A	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7474	WNT5A	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7474	WNT5A	HP:0000750	Delayed speech and language development	-	OMIM:615777
7474	WNT5A	HP:0011461	Fetal onset	7/7	OMIM:615777
7474	WNT5A	HP:0000774	Narrow chest	2/7	OMIM:615777
7474	WNT5A	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0012905	Euryblepharon	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0003196	Short nose	6/6	OMIM:180700
7474	WNT5A	HP:0003196	Short nose	HP:0040281	ORPHA:3107
7474	WNT5A	HP:0000926	Platyspondyly	1/7	OMIM:615777
7474	WNT5A	HP:0003180	Flat acetabular roof	-	OMIM:615777
7474	WNT5A	HP:0004482	Relative macrocephaly	-	OMIM:615777
7474	WNT5A	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7474	WNT5A	HP:0000823	Delayed puberty	-	OMIM:131300
7474	WNT5A	HP:0010297	Bifid tongue	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0010297	Bifid tongue	-	OMIM:180700
7474	WNT5A	HP:0010290	Short hard palate	-	OMIM:180700
7474	WNT5A	HP:0040036	Onychogryphosis of fingernail	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0000894	Short clavicles	-	OMIM:615777
7474	WNT5A	HP:0005852	Limited elbow extension and supination	2/6	OMIM:180700
7474	WNT5A	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7474	WNT5A	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7474	WNT5A	HP:0000960	Sacral dimple	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0000960	Sacral dimple	3/6	OMIM:180700
7474	WNT5A	HP:0000286	Epicanthus	3/6	OMIM:180700
7474	WNT5A	HP:0000286	Epicanthus	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0000286	Epicanthus	1/7	OMIM:615777
7474	WNT5A	HP:0000280	Coarse facial features	2/7	OMIM:615777
7474	WNT5A	HP:0000278	Retrognathia	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0000278	Retrognathia	-	OMIM:180700
7474	WNT5A	HP:0001596	Alopecia	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0000260	Wide anterior fontanel	3/6	OMIM:180700
7474	WNT5A	HP:0000256	Macrocephaly	-	OMIM:180700
7474	WNT5A	HP:0000256	Macrocephaly	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0000272	Malar flattening	2/6	OMIM:180700
7474	WNT5A	HP:0002812	Coxa vara	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0002827	Hip dislocation	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0002827	Hip dislocation	3/7	OMIM:615777
7474	WNT5A	HP:0030084	Clinodactyly	-	OMIM:180700
7474	WNT5A	HP:0000252	Microcephaly	-	OMIM:615777
7474	WNT5A	HP:0000219	Thin upper lip vermilion	-	OMIM:180700
7474	WNT5A	HP:0000218	High palate	-	OMIM:180700
7474	WNT5A	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0000212	Gingival overgrowth	3/6	OMIM:180700
7474	WNT5A	HP:0000200	Short lingual frenulum	3/6	OMIM:180700
7474	WNT5A	HP:0002857	Genu valgum	-	OMIM:131300
7474	WNT5A	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0001537	Umbilical hernia	-	OMIM:180700
7474	WNT5A	HP:0000207	Triangular mouth	-	OMIM:180700
7474	WNT5A	HP:0000202	Orofacial cleft	-	OMIM:180700
7474	WNT5A	HP:0001533	Slender build	-	OMIM:131300
7474	WNT5A	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7474	WNT5A	HP:0007807	Optic nerve compression	-	OMIM:131300
7474	WNT5A	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0012368	Flat face	7/7	OMIM:615777
7474	WNT5A	HP:0012368	Flat face	3/6	OMIM:180700
7474	WNT5A	HP:0002937	Hemivertebrae	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7474	WNT5A	HP:0000365	Hearing impairment	10/67	OMIM:131300
7474	WNT5A	HP:0000365	Hearing impairment	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0000358	Posteriorly rotated ears	3/6	OMIM:180700
7474	WNT5A	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0000369	Low-set ears	2/6	OMIM:180700
7474	WNT5A	HP:0000369	Low-set ears	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0000343	Long philtrum	3/6	OMIM:180700
7474	WNT5A	HP:0000343	Long philtrum	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0000343	Long philtrum	1/7	OMIM:615777
7474	WNT5A	HP:0011001	Increased bone mineral density	-	OMIM:131300
7474	WNT5A	HP:0000347	Micrognathia	3/6	OMIM:180700
7474	WNT5A	HP:0000347	Micrognathia	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0002983	Micromelia	HP:0040281	ORPHA:3107
7474	WNT5A	HP:0000316	Hypertelorism	2/6	OMIM:180700
7474	WNT5A	HP:0000316	Hypertelorism	HP:0040281	ORPHA:3107
7474	WNT5A	HP:0000311	Round face	2/7	OMIM:615777
7474	WNT5A	HP:0000322	Short philtrum	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0002970	Genu varum	-	OMIM:615777
7474	WNT5A	HP:0000303	Mandibular prognathia	-	OMIM:131300
7474	WNT5A	HP:0005306	Capillary hemangioma	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0001705	Right ventricular outlet tract obstruction	-	OMIM:180700
7474	WNT5A	HP:0005280	Depressed nasal bridge	3/6	OMIM:180700
7474	WNT5A	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7474	WNT5A	HP:0000486	Strabismus	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0000494	Downslanted palpebral fissures	3/6	OMIM:180700
7474	WNT5A	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0000463	Anteverted nares	3/6	OMIM:180700
7474	WNT5A	HP:0000463	Anteverted nares	HP:0040281	ORPHA:3107
7474	WNT5A	HP:0000470	Short neck	-	OMIM:180700
7474	WNT5A	HP:0000470	Short neck	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0000470	Short neck	1/7	OMIM:615777
7474	WNT5A	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7474	WNT5A	HP:0001763	Pes planus	1/7	OMIM:615777
7474	WNT5A	HP:0000445	Wide nose	HP:0040281	ORPHA:3107
7474	WNT5A	HP:0000431	Wide nasal bridge	-	OMIM:180700
7474	WNT5A	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:3107
7474	WNT5A	HP:0001840	Metatarsus adductus	-	OMIM:615777
7474	WNT5A	HP:0000527	Long eyelashes	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0000527	Long eyelashes	-	OMIM:180700
7474	WNT5A	HP:0000520	Proptosis	2/4	OMIM:131300
7474	WNT5A	HP:0000520	Proptosis	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0000520	Proptosis	7/7	OMIM:615777
7474	WNT5A	HP:0000520	Proptosis	3/6	OMIM:180700
7474	WNT5A	HP:0001853	Bifid distal phalanx of toe	-	OMIM:180700
7474	WNT5A	HP:0001837	Broad toe	-	OMIM:180700
7474	WNT5A	HP:0000508	Ptosis	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0000582	Upslanted palpebral fissure	-	OMIM:180700
7474	WNT5A	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0000592	Blue sclerae	2/7	OMIM:615777
7474	WNT5A	HP:0000592	Blue sclerae	HP:0040283	ORPHA:3107
7474	WNT5A	HP:0011220	Prominent forehead	HP:0040282	ORPHA:3107
7474	WNT5A	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7474	WNT5A	HP:0012514	Lower limb pain	4/4	OMIM:131300
7475	WNT6	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7475	WNT6	HP:0001293	Cranial nerve compression	-	OMIM:131300
7475	WNT6	HP:0001252	Hypotonia	2/7	OMIM:615777
7475	WNT6	HP:0001249	Intellectual disability	5/7	OMIM:615777
7475	WNT6	HP:0001263	Global developmental delay	-	OMIM:615777
7475	WNT6	HP:0002515	Waddling gait	54/102	OMIM:131300
7475	WNT6	HP:0001382	Joint hypermobility	-	OMIM:615777
7475	WNT6	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7475	WNT6	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7475	WNT6	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7475	WNT6	HP:0001324	Muscle weakness	40/96	OMIM:131300
7475	WNT6	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7475	WNT6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7475	WNT6	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7475	WNT6	HP:0002650	Scoliosis	12/14	OMIM:131300
7475	WNT6	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7475	WNT6	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7475	WNT6	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7475	WNT6	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7475	WNT6	HP:0000175	Cleft palate	2/7	OMIM:615777
7475	WNT6	HP:0003388	Easy fatigability	36/76	OMIM:131300
7475	WNT6	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7475	WNT6	HP:0003510	Severe short stature	7/7	OMIM:615777
7475	WNT6	HP:0002315	Headache	-	OMIM:131300
7475	WNT6	HP:0004976	Knee dislocation	6/7	OMIM:615777
7475	WNT6	HP:0009803	Short phalanx of finger	-	OMIM:615777
7475	WNT6	HP:0009763	Limb pain	63/92	OMIM:131300
7475	WNT6	HP:0003621	Juvenile onset	-	OMIM:131300
7475	WNT6	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7475	WNT6	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7475	WNT6	HP:6001056	Out-toeing	-	OMIM:131300
7475	WNT6	HP:0000651	Diplopia	-	OMIM:131300
7475	WNT6	HP:0001956	Truncal obesity	2/7	OMIM:615777
7475	WNT6	HP:0001903	Anemia	HP:0040283	OMIM:131300
7475	WNT6	HP:0010049	Short metacarpal	-	OMIM:615777
7475	WNT6	HP:0000678	Dental crowding	-	OMIM:615777
7475	WNT6	HP:0000670	Carious teeth	-	OMIM:131300
7475	WNT6	HP:0011304	Broad thumb	2/7	OMIM:615777
7475	WNT6	HP:0000668	Hypodontia	-	OMIM:615777
7475	WNT6	HP:0000664	Synophrys	-	OMIM:615777
7475	WNT6	HP:0004396	Poor appetite	-	OMIM:131300
7475	WNT6	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7475	WNT6	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7475	WNT6	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7475	WNT6	HP:0003026	Short long bone	7/7	OMIM:615777
7475	WNT6	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7475	WNT6	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7475	WNT6	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7475	WNT6	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7475	WNT6	HP:0000750	Delayed speech and language development	-	OMIM:615777
7475	WNT6	HP:0011461	Fetal onset	7/7	OMIM:615777
7475	WNT6	HP:0000774	Narrow chest	2/7	OMIM:615777
7475	WNT6	HP:0000926	Platyspondyly	1/7	OMIM:615777
7475	WNT6	HP:0003180	Flat acetabular roof	-	OMIM:615777
7475	WNT6	HP:0004482	Relative macrocephaly	-	OMIM:615777
7475	WNT6	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7475	WNT6	HP:0000823	Delayed puberty	-	OMIM:131300
7475	WNT6	HP:0000894	Short clavicles	-	OMIM:615777
7475	WNT6	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7475	WNT6	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7475	WNT6	HP:0000286	Epicanthus	1/7	OMIM:615777
7475	WNT6	HP:0000280	Coarse facial features	2/7	OMIM:615777
7475	WNT6	HP:0002827	Hip dislocation	3/7	OMIM:615777
7475	WNT6	HP:0000252	Microcephaly	-	OMIM:615777
7475	WNT6	HP:0002857	Genu valgum	-	OMIM:131300
7475	WNT6	HP:0001533	Slender build	-	OMIM:131300
7475	WNT6	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7475	WNT6	HP:0007807	Optic nerve compression	-	OMIM:131300
7475	WNT6	HP:0012368	Flat face	7/7	OMIM:615777
7475	WNT6	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7475	WNT6	HP:0000365	Hearing impairment	10/67	OMIM:131300
7475	WNT6	HP:0000343	Long philtrum	1/7	OMIM:615777
7475	WNT6	HP:0011001	Increased bone mineral density	-	OMIM:131300
7475	WNT6	HP:0000311	Round face	2/7	OMIM:615777
7475	WNT6	HP:0002970	Genu varum	-	OMIM:615777
7475	WNT6	HP:0000303	Mandibular prognathia	-	OMIM:131300
7475	WNT6	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7475	WNT6	HP:0000470	Short neck	1/7	OMIM:615777
7475	WNT6	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7475	WNT6	HP:0001763	Pes planus	1/7	OMIM:615777
7475	WNT6	HP:0001840	Metatarsus adductus	-	OMIM:615777
7475	WNT6	HP:0000520	Proptosis	2/4	OMIM:131300
7475	WNT6	HP:0000520	Proptosis	7/7	OMIM:615777
7475	WNT6	HP:0000592	Blue sclerae	2/7	OMIM:615777
7475	WNT6	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7475	WNT6	HP:0012514	Lower limb pain	4/4	OMIM:131300
7476	WNT7A	HP:0001171	Split hand	HP:0040282	OMIM:276820
7476	WNT7A	HP:0001156	Brachydactyly	-	OMIM:613005
7476	WNT7A	HP:0001162	Postaxial hand polydactyly	HP:0040282	OMIM:228930
7476	WNT7A	HP:0001159	Syndactyly	-	OMIM:613005
7476	WNT7A	HP:0002436	Occipital meningocele	HP:0040283	OMIM:276820
7476	WNT7A	HP:0002435	Meningocele	HP:0040283	ORPHA:2879
7476	WNT7A	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7476	WNT7A	HP:0001293	Cranial nerve compression	-	OMIM:131300
7476	WNT7A	HP:0001252	Hypotonia	2/7	OMIM:615777
7476	WNT7A	HP:0001249	Intellectual disability	5/7	OMIM:615777
7476	WNT7A	HP:0001263	Global developmental delay	-	OMIM:615777
7476	WNT7A	HP:0002557	Hypoplastic nipples	-	OMIM:276820
7476	WNT7A	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:2879
7476	WNT7A	HP:0006101	Finger syndactyly	HP:0040283	OMIM:228930
7476	WNT7A	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:2879
7476	WNT7A	HP:0002515	Waddling gait	54/102	OMIM:131300
7476	WNT7A	HP:0001374	Congenital hip dislocation	HP:0040282	OMIM:228930
7476	WNT7A	HP:0000046	Small scrotum	1/3	OMIM:276820
7476	WNT7A	HP:0001382	Joint hypermobility	-	OMIM:615777
7476	WNT7A	HP:0000047	Hypospadias	-	OMIM:276820
7476	WNT7A	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7476	WNT7A	HP:0001362	Calvarial skull defect	HP:0040283	ORPHA:2879
7476	WNT7A	HP:0000028	Cryptorchidism	2/3	OMIM:276820
7476	WNT7A	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2879
7476	WNT7A	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7476	WNT7A	HP:0008839	Hypoplastic pelvis	HP:0040282	OMIM:228930
7476	WNT7A	HP:0008817	Aplastic pubic bone	-	OMIM:276820
7476	WNT7A	HP:0006143	Abnormal finger flexion crease	HP:0040282	OMIM:228930
7476	WNT7A	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7476	WNT7A	HP:0001324	Muscle weakness	40/96	OMIM:131300
7476	WNT7A	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7476	WNT7A	HP:0000007	Autosomal recessive inheritance	-	OMIM:276820
7476	WNT7A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7476	WNT7A	HP:0000007	Autosomal recessive inheritance	-	OMIM:228930
7476	WNT7A	HP:0000006	Autosomal dominant inheritance	-	OMIM:613005
7476	WNT7A	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7476	WNT7A	HP:0002650	Scoliosis	12/14	OMIM:131300
7476	WNT7A	HP:0003982	Aplasia of the ulna	HP:0040281	ORPHA:2879
7476	WNT7A	HP:0003982	Aplasia of the ulna	HP:0040281	OMIM:276820
7476	WNT7A	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7476	WNT7A	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7476	WNT7A	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7476	WNT7A	HP:0000189	Narrow palate	-	OMIM:276820
7476	WNT7A	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7476	WNT7A	HP:0012165	Oligodactyly	-	OMIM:613005
7476	WNT7A	HP:0000175	Cleft palate	2/7	OMIM:615777
7476	WNT7A	HP:0000175	Cleft palate	HP:0040283	ORPHA:2879
7476	WNT7A	HP:0000141	Amenorrhea	-	OMIM:228930
7476	WNT7A	HP:0000151	Aplasia of the uterus	HP:0040282	ORPHA:2879
7476	WNT7A	HP:0000151	Aplasia of the uterus	HP:0040283	OMIM:276820
7476	WNT7A	HP:0002705	High, narrow palate	HP:0040283	ORPHA:2879
7476	WNT7A	HP:0006262	Aplasia/Hypoplasia of the 5th finger	HP:0040282	OMIM:228930
7476	WNT7A	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040282	OMIM:228930
7476	WNT7A	HP:0002023	Anal atresia	HP:0040283	ORPHA:2879
7476	WNT7A	HP:0003388	Easy fatigability	36/76	OMIM:131300
7476	WNT7A	HP:0010442	Polydactyly	-	OMIM:613005
7476	WNT7A	HP:0009465	Ulnar deviation of finger	HP:0040282	OMIM:228930
7476	WNT7A	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7476	WNT7A	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	HP:0040282	OMIM:276820
7476	WNT7A	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	HP:0040282	OMIM:228930
7476	WNT7A	HP:0003498	Disproportionate short stature	HP:0040281	ORPHA:2879
7476	WNT7A	HP:0003498	Disproportionate short stature	HP:0040282	OMIM:276820
7476	WNT7A	HP:0002164	Nail dysplasia	HP:0040281	ORPHA:2879
7476	WNT7A	HP:0008363	Aplasia/Hypoplasia of the tarsal bones	HP:0040282	OMIM:276820
7476	WNT7A	HP:0003510	Severe short stature	7/7	OMIM:615777
7476	WNT7A	HP:0002315	Headache	-	OMIM:131300
7476	WNT7A	HP:0004976	Knee dislocation	6/7	OMIM:615777
7476	WNT7A	HP:0008517	Aplasia/Hypoplasia of the sacrum	HP:0040281	ORPHA:2879
7476	WNT7A	HP:0009829	Phocomelia	HP:0040282	OMIM:276820
7476	WNT7A	HP:0009815	Aplasia/hypoplasia of the extremities	HP:0040280	OMIM:276820
7476	WNT7A	HP:0009803	Short phalanx of finger	-	OMIM:615777
7476	WNT7A	HP:0010769	Pilonidal sinus	-	OMIM:276820
7476	WNT7A	HP:0009763	Limb pain	63/92	OMIM:131300
7476	WNT7A	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	HP:0040282	OMIM:276820
7476	WNT7A	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	-	OMIM:228930
7476	WNT7A	HP:0003621	Juvenile onset	-	OMIM:131300
7476	WNT7A	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7476	WNT7A	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7476	WNT7A	HP:0004231	Carpal bone aplasia	-	OMIM:276820
7476	WNT7A	HP:0001964	Aplasia/Hypoplasia of metatarsal bones	HP:0040282	OMIM:276820
7476	WNT7A	HP:0001964	Aplasia/Hypoplasia of metatarsal bones	HP:0040282	OMIM:228930
7476	WNT7A	HP:6001056	Out-toeing	-	OMIM:131300
7476	WNT7A	HP:0000651	Diplopia	-	OMIM:131300
7476	WNT7A	HP:0001956	Truncal obesity	2/7	OMIM:615777
7476	WNT7A	HP:0001903	Anemia	HP:0040283	OMIM:131300
7476	WNT7A	HP:0010049	Short metacarpal	-	OMIM:615777
7476	WNT7A	HP:0000678	Dental crowding	-	OMIM:615777
7476	WNT7A	HP:0000670	Carious teeth	-	OMIM:131300
7476	WNT7A	HP:0011304	Broad thumb	2/7	OMIM:615777
7476	WNT7A	HP:0000668	Hypodontia	-	OMIM:615777
7476	WNT7A	HP:0000664	Synophrys	-	OMIM:615777
7476	WNT7A	HP:0004322	Short stature	-	OMIM:613005
7476	WNT7A	HP:0004322	Short stature	HP:0040282	OMIM:228930
7476	WNT7A	HP:0005613	Aplasia/hypoplasia of the femur	HP:0040281	OMIM:276820
7476	WNT7A	HP:0005613	Aplasia/hypoplasia of the femur	HP:0040282	OMIM:228930
7476	WNT7A	HP:0003070	Elbow ankylosis	HP:0040282	OMIM:276820
7476	WNT7A	HP:0004396	Poor appetite	-	OMIM:131300
7476	WNT7A	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7476	WNT7A	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7476	WNT7A	HP:0003041	Humeroradial synostosis	HP:0040283	ORPHA:2879
7476	WNT7A	HP:0003041	Humeroradial synostosis	HP:0040282	OMIM:276820
7476	WNT7A	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7476	WNT7A	HP:0003026	Short long bone	7/7	OMIM:615777
7476	WNT7A	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7476	WNT7A	HP:0400004	Long ear	-	OMIM:276820
7476	WNT7A	HP:0009104	Aplasia/Hypoplasia of the pubic bone	HP:0040282	OMIM:276820
7476	WNT7A	HP:0009103	Aplasia/Hypoplasia involving the pelvis	HP:0040281	ORPHA:2879
7476	WNT7A	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7476	WNT7A	HP:0000768	Pectus carinatum	-	OMIM:276820
7476	WNT7A	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7476	WNT7A	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7476	WNT7A	HP:0000750	Delayed speech and language development	-	OMIM:615777
7476	WNT7A	HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	HP:0040282	OMIM:276820
7476	WNT7A	HP:0011461	Fetal onset	7/7	OMIM:615777
7476	WNT7A	HP:0000774	Narrow chest	2/7	OMIM:615777
7476	WNT7A	HP:0003196	Short nose	HP:0040283	ORPHA:2879
7476	WNT7A	HP:0000916	Broad clavicles	3/5	OMIM:276820
7476	WNT7A	HP:0000926	Platyspondyly	1/7	OMIM:615777
7476	WNT7A	HP:0003180	Flat acetabular roof	-	OMIM:615777
7476	WNT7A	HP:0004482	Relative macrocephaly	-	OMIM:615777
7476	WNT7A	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7476	WNT7A	HP:0000884	Prominent sternum	2/3	OMIM:276820
7476	WNT7A	HP:0000885	Broad ribs	3/5	OMIM:276820
7476	WNT7A	HP:0000823	Delayed puberty	-	OMIM:131300
7476	WNT7A	HP:0000894	Short clavicles	-	OMIM:615777
7476	WNT7A	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7476	WNT7A	HP:0003252	Anteriorly displaced genitalia	4/5	OMIM:276820
7476	WNT7A	HP:0100259	Postaxial polydactyly	-	OMIM:613005
7476	WNT7A	HP:0100257	Ectrodactyly	HP:0040281	ORPHA:2879
7476	WNT7A	HP:0100258	Preaxial polydactyly	-	OMIM:613005
7476	WNT7A	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7476	WNT7A	HP:0009380	Finger aplasia	HP:0040282	OMIM:228930
7476	WNT7A	HP:0009380	Finger aplasia	HP:0040281	ORPHA:2879
7476	WNT7A	HP:0009380	Finger aplasia	HP:0040281	OMIM:276820
7476	WNT7A	HP:0000286	Epicanthus	-	OMIM:276820
7476	WNT7A	HP:0000286	Epicanthus	1/7	OMIM:615777
7476	WNT7A	HP:0000280	Coarse facial features	2/7	OMIM:615777
7476	WNT7A	HP:0000276	Long face	2/3	OMIM:276820
7476	WNT7A	HP:0006443	Patellar aplasia	HP:0040282	OMIM:228930
7476	WNT7A	HP:0002827	Hip dislocation	HP:0040283	OMIM:276820
7476	WNT7A	HP:0002827	Hip dislocation	3/7	OMIM:615777
7476	WNT7A	HP:0030084	Clinodactyly	-	OMIM:228930
7476	WNT7A	HP:0000252	Microcephaly	-	OMIM:615777
7476	WNT7A	HP:0001552	Barrel-shaped chest	2/3	OMIM:276820
7476	WNT7A	HP:0000218	High palate	-	OMIM:276820
7476	WNT7A	HP:0002857	Genu valgum	-	OMIM:131300
7476	WNT7A	HP:0002857	Genu valgum	-	OMIM:613005
7476	WNT7A	HP:0001533	Slender build	-	OMIM:131300
7476	WNT7A	HP:0002866	Hypoplastic iliac wing	HP:0040282	OMIM:228930
7476	WNT7A	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7476	WNT7A	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2879
7476	WNT7A	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	HP:0040282	OMIM:276820
7476	WNT7A	HP:0007807	Optic nerve compression	-	OMIM:131300
7476	WNT7A	HP:0012368	Flat face	7/7	OMIM:615777
7476	WNT7A	HP:0000377	Abnormal pinna morphology	-	OMIM:276820
7476	WNT7A	HP:0006585	Congenital pseudoarthrosis of the clavicle	-	OMIM:276820
7476	WNT7A	HP:0002937	Hemivertebrae	-	OMIM:276820
7476	WNT7A	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7476	WNT7A	HP:0006492	Aplasia/Hypoplasia of the fibula	HP:0040281	OMIM:228930
7476	WNT7A	HP:0006495	Aplasia/Hypoplasia of the ulna	HP:0040281	OMIM:228930
7476	WNT7A	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:2879
7476	WNT7A	HP:0000365	Hearing impairment	10/67	OMIM:131300
7476	WNT7A	HP:0000369	Low-set ears	-	OMIM:276820
7476	WNT7A	HP:0000343	Long philtrum	1/7	OMIM:615777
7476	WNT7A	HP:0011001	Increased bone mineral density	-	OMIM:131300
7476	WNT7A	HP:0000347	Micrognathia	HP:0040282	ORPHA:2879
7476	WNT7A	HP:0002983	Micromelia	HP:0040281	ORPHA:2879
7476	WNT7A	HP:0002980	Femoral bowing	HP:0040281	OMIM:228930
7476	WNT7A	HP:0002980	Femoral bowing	HP:0040282	OMIM:276820
7476	WNT7A	HP:0000311	Round face	2/7	OMIM:615777
7476	WNT7A	HP:0002992	Abnormal tibia morphology	HP:0040281	ORPHA:2879
7476	WNT7A	HP:0002990	Fibular aplasia	-	OMIM:228930
7476	WNT7A	HP:0002990	Fibular aplasia	HP:0040281	ORPHA:2879
7476	WNT7A	HP:0002990	Fibular aplasia	HP:0040281	OMIM:276820
7476	WNT7A	HP:0002986	Radial bowing	HP:0040281	OMIM:228930
7476	WNT7A	HP:0002986	Radial bowing	HP:0040282	ORPHA:2879
7476	WNT7A	HP:0002986	Radial bowing	HP:0040282	OMIM:276820
7476	WNT7A	HP:0002987	Elbow flexion contracture	HP:0040282	OMIM:276820
7476	WNT7A	HP:0002984	Hypoplasia of the radius	HP:0040281	OMIM:228930
7476	WNT7A	HP:0002984	Hypoplasia of the radius	HP:0040282	ORPHA:2879
7476	WNT7A	HP:0002984	Hypoplasia of the radius	HP:0040282	OMIM:276820
7476	WNT7A	HP:0002970	Genu varum	-	OMIM:615777
7476	WNT7A	HP:0000303	Mandibular prognathia	-	OMIM:131300
7476	WNT7A	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7476	WNT7A	HP:0001789	Hydrops fetalis	HP:0040283	ORPHA:2879
7476	WNT7A	HP:0000475	Broad neck	3/5	OMIM:276820
7476	WNT7A	HP:0000470	Short neck	-	OMIM:276820
7476	WNT7A	HP:0000470	Short neck	1/7	OMIM:615777
7476	WNT7A	HP:0000470	Short neck	HP:0040282	ORPHA:2879
7476	WNT7A	HP:0001798	Anonychia	-	OMIM:276820
7476	WNT7A	HP:0001798	Anonychia	-	OMIM:613005
7476	WNT7A	HP:0001770	Toe syndactyly	HP:0040282	OMIM:228930
7476	WNT7A	HP:0001773	Short foot	HP:0040281	OMIM:276820
7476	WNT7A	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7476	WNT7A	HP:0001763	Pes planus	1/7	OMIM:615777
7476	WNT7A	HP:0000411	Protruding ear	HP:0040283	ORPHA:2879
7476	WNT7A	HP:0001762	Talipes equinovarus	HP:0040282	OMIM:228930
7476	WNT7A	HP:0001762	Talipes equinovarus	-	OMIM:613005
7476	WNT7A	HP:0000431	Wide nasal bridge	-	OMIM:276820
7476	WNT7A	HP:0005474	Decreased calvarial ossification	-	OMIM:276820
7476	WNT7A	HP:0001849	Foot oligodactyly	HP:0040282	OMIM:228930
7476	WNT7A	HP:0001849	Foot oligodactyly	HP:0040281	ORPHA:2879
7476	WNT7A	HP:0001849	Foot oligodactyly	HP:0040281	OMIM:276820
7476	WNT7A	HP:0001840	Metatarsus adductus	-	OMIM:615777
7476	WNT7A	HP:0001840	Metatarsus adductus	-	OMIM:613005
7476	WNT7A	HP:0000520	Proptosis	2/4	OMIM:131300
7476	WNT7A	HP:0000520	Proptosis	7/7	OMIM:615777
7476	WNT7A	HP:0001802	Absent toenail	-	OMIM:228930
7476	WNT7A	HP:0000592	Blue sclerae	2/7	OMIM:615777
7476	WNT7A	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7476	WNT7A	HP:0001883	Talipes	HP:0040283	ORPHA:2879
7476	WNT7A	HP:0012514	Lower limb pain	4/4	OMIM:131300
7477	WNT7B	HP:0100800	Aplasia/Hypoplasia of the pancreas	HP:0040283	ORPHA:2470
7477	WNT7B	HP:0001252	Hypotonia	HP:0040283	ORPHA:2470
7477	WNT7B	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2470
7477	WNT7B	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:2470
7477	WNT7B	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:2470
7477	WNT7B	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:2470
7477	WNT7B	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:2470
7477	WNT7B	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2470
7477	WNT7B	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:2470
7477	WNT7B	HP:0025408	Abnormal spleen morphology	HP:0040283	ORPHA:2470
7477	WNT7B	HP:0002089	Pulmonary hypoplasia	HP:0040282	ORPHA:2470
7477	WNT7B	HP:0002088	Abnormal lung morphology	HP:0040282	ORPHA:2470
7477	WNT7B	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:2470
7477	WNT7B	HP:0000776	Congenital diaphragmatic hernia	HP:0040282	ORPHA:2470
7477	WNT7B	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2470
7477	WNT7B	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:2470
7477	WNT7B	HP:0000369	Low-set ears	HP:0040283	ORPHA:2470
7477	WNT7B	HP:0001734	Annular pancreas	HP:0040283	ORPHA:2470
7477	WNT7B	HP:0000528	Anophthalmia	HP:0040281	ORPHA:2470
7477	WNT7B	HP:0000568	Microphthalmia	HP:0040281	ORPHA:2470
7480	WNT10B	HP:0001171	Split hand	HP:0040283	ORPHA:2440
7480	WNT10B	HP:0001171	Split hand	-	OMIM:225300
7480	WNT10B	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7480	WNT10B	HP:0001293	Cranial nerve compression	-	OMIM:131300
7480	WNT10B	HP:0001252	Hypotonia	2/7	OMIM:615777
7480	WNT10B	HP:0001249	Intellectual disability	5/7	OMIM:615777
7480	WNT10B	HP:0001263	Global developmental delay	-	OMIM:615777
7480	WNT10B	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:2440
7480	WNT10B	HP:0006101	Finger syndactyly	-	OMIM:225300
7480	WNT10B	HP:0002515	Waddling gait	54/102	OMIM:131300
7480	WNT10B	HP:0003829	Typified by incomplete penetrance	-	OMIM:225300
7480	WNT10B	HP:0001382	Joint hypermobility	-	OMIM:615777
7480	WNT10B	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7480	WNT10B	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7480	WNT10B	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7480	WNT10B	HP:0001324	Muscle weakness	40/96	OMIM:131300
7480	WNT10B	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7480	WNT10B	HP:0000007	Autosomal recessive inheritance	-	OMIM:225300
7480	WNT10B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7480	WNT10B	HP:0000006	Autosomal dominant inheritance	-	OMIM:617073
7480	WNT10B	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7480	WNT10B	HP:0002650	Scoliosis	12/14	OMIM:131300
7480	WNT10B	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7480	WNT10B	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7480	WNT10B	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7480	WNT10B	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7480	WNT10B	HP:0012165	Oligodactyly	HP:0040281	ORPHA:2440
7480	WNT10B	HP:0000175	Cleft palate	2/7	OMIM:615777
7480	WNT10B	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:99798
7480	WNT10B	HP:0006344	Abnormal primary molar morphology	HP:0040283	ORPHA:99798
7480	WNT10B	HP:0006336	Short dental root	HP:0040282	ORPHA:99798
7480	WNT10B	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:99798
7480	WNT10B	HP:0006289	Agenesis of central incisor	HP:0040282	ORPHA:99798
7480	WNT10B	HP:0003388	Easy fatigability	36/76	OMIM:131300
7480	WNT10B	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7480	WNT10B	HP:0003510	Severe short stature	7/7	OMIM:615777
7480	WNT10B	HP:0002315	Headache	-	OMIM:131300
7480	WNT10B	HP:0004976	Knee dislocation	6/7	OMIM:615777
7480	WNT10B	HP:0009803	Short phalanx of finger	-	OMIM:615777
7480	WNT10B	HP:0009763	Limb pain	63/92	OMIM:131300
7480	WNT10B	HP:0003621	Juvenile onset	-	OMIM:131300
7480	WNT10B	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7480	WNT10B	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7480	WNT10B	HP:6001056	Out-toeing	-	OMIM:131300
7480	WNT10B	HP:0000651	Diplopia	-	OMIM:131300
7480	WNT10B	HP:0001956	Truncal obesity	2/7	OMIM:615777
7480	WNT10B	HP:0001903	Anemia	HP:0040283	OMIM:131300
7480	WNT10B	HP:0010049	Short metacarpal	-	OMIM:615777
7480	WNT10B	HP:0000696	Delayed eruption of permanent teeth	HP:0040282	ORPHA:99798
7480	WNT10B	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:99798
7480	WNT10B	HP:0000679	Taurodontia	HP:0040283	ORPHA:99798
7480	WNT10B	HP:0000678	Dental crowding	-	OMIM:615777
7480	WNT10B	HP:0000677	Oligodontia	HP:0040280	ORPHA:99798
7480	WNT10B	HP:0000691	Microdontia	3/3	OMIM:617073
7480	WNT10B	HP:0000691	Microdontia	HP:0040282	ORPHA:99798
7480	WNT10B	HP:0000690	Agenesis of maxillary lateral incisor	HP:0040282	ORPHA:99798
7480	WNT10B	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:99798
7480	WNT10B	HP:0000685	Hypoplasia of teeth	HP:0040283	ORPHA:99798
7480	WNT10B	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:99798
7480	WNT10B	HP:0000670	Carious teeth	-	OMIM:131300
7480	WNT10B	HP:0011304	Broad thumb	2/7	OMIM:615777
7480	WNT10B	HP:0000668	Hypodontia	-	OMIM:615777
7480	WNT10B	HP:0000664	Synophrys	-	OMIM:615777
7480	WNT10B	HP:0004396	Poor appetite	-	OMIM:131300
7480	WNT10B	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7480	WNT10B	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7480	WNT10B	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7480	WNT10B	HP:0003026	Short long bone	7/7	OMIM:615777
7480	WNT10B	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7480	WNT10B	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7480	WNT10B	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7480	WNT10B	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7480	WNT10B	HP:0000750	Delayed speech and language development	-	OMIM:615777
7480	WNT10B	HP:0011461	Fetal onset	7/7	OMIM:615777
7480	WNT10B	HP:0000774	Narrow chest	2/7	OMIM:615777
7480	WNT10B	HP:0000926	Platyspondyly	1/7	OMIM:615777
7480	WNT10B	HP:0003180	Flat acetabular roof	-	OMIM:615777
7480	WNT10B	HP:0004482	Relative macrocephaly	-	OMIM:615777
7480	WNT10B	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7480	WNT10B	HP:0000823	Delayed puberty	-	OMIM:131300
7480	WNT10B	HP:0000894	Short clavicles	-	OMIM:615777
7480	WNT10B	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7480	WNT10B	HP:0045075	Sparse eyebrow	3/3	OMIM:617073
7480	WNT10B	HP:0000958	Dry skin	2/3	OMIM:617073
7480	WNT10B	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7480	WNT10B	HP:0008070	Sparse hair	2/3	OMIM:617073
7480	WNT10B	HP:0009380	Finger aplasia	-	OMIM:225300
7480	WNT10B	HP:0000286	Epicanthus	1/7	OMIM:615777
7480	WNT10B	HP:0000280	Coarse facial features	2/7	OMIM:615777
7480	WNT10B	HP:0001592	Selective tooth agenesis	3/3	OMIM:617073
7480	WNT10B	HP:0002827	Hip dislocation	3/7	OMIM:615777
7480	WNT10B	HP:0000252	Microcephaly	-	OMIM:615777
7480	WNT10B	HP:0002857	Genu valgum	-	OMIM:131300
7480	WNT10B	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:99798
7480	WNT10B	HP:0001533	Slender build	-	OMIM:131300
7480	WNT10B	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7480	WNT10B	HP:0007807	Optic nerve compression	-	OMIM:131300
7480	WNT10B	HP:0011078	Abnormality of canine	HP:0040283	ORPHA:99798
7480	WNT10B	HP:0011053	Agenesis of mandibular premolar	HP:0040283	ORPHA:99798
7480	WNT10B	HP:0011051	Agenesis of premolar	HP:0040282	ORPHA:99798
7480	WNT10B	HP:0011056	Agenesis of first permanent molar tooth	HP:0040282	ORPHA:99798
7480	WNT10B	HP:0012368	Flat face	7/7	OMIM:615777
7480	WNT10B	HP:0005216	Impaired mastication	HP:0040281	ORPHA:99798
7480	WNT10B	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7480	WNT10B	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:99798
7480	WNT10B	HP:0000365	Hearing impairment	10/67	OMIM:131300
7480	WNT10B	HP:0000343	Long philtrum	1/7	OMIM:615777
7480	WNT10B	HP:0011001	Increased bone mineral density	-	OMIM:131300
7480	WNT10B	HP:0000311	Round face	2/7	OMIM:615777
7480	WNT10B	HP:0002970	Genu varum	-	OMIM:615777
7480	WNT10B	HP:0000303	Mandibular prognathia	-	OMIM:131300
7480	WNT10B	HP:0004058	Hand monodactyly	HP:0040282	ORPHA:2440
7480	WNT10B	HP:0004050	Absent hand	HP:0040283	ORPHA:2440
7480	WNT10B	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2440
7480	WNT10B	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7480	WNT10B	HP:0012472	Eclabion	HP:0040283	ORPHA:99798
7480	WNT10B	HP:0000470	Short neck	1/7	OMIM:615777
7480	WNT10B	HP:0001770	Toe syndactyly	-	OMIM:225300
7480	WNT10B	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7480	WNT10B	HP:0001763	Pes planus	1/7	OMIM:615777
7480	WNT10B	HP:0001849	Foot oligodactyly	-	OMIM:225300
7480	WNT10B	HP:0001840	Metatarsus adductus	-	OMIM:615777
7480	WNT10B	HP:0000526	Aniridia	HP:0040283	ORPHA:2440
7480	WNT10B	HP:0000520	Proptosis	2/4	OMIM:131300
7480	WNT10B	HP:0000520	Proptosis	7/7	OMIM:615777
7480	WNT10B	HP:0001839	Split foot	-	OMIM:225300
7480	WNT10B	HP:0001839	Split foot	HP:0040282	ORPHA:2440
7480	WNT10B	HP:0000592	Blue sclerae	2/7	OMIM:615777
7480	WNT10B	HP:0011219	Short face	HP:0040283	ORPHA:99798
7480	WNT10B	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7480	WNT10B	HP:0012514	Lower limb pain	4/4	OMIM:131300
7481	WNT11	HP:0001256	Intellectual disability, mild	-	OMIM:259770
7481	WNT11	HP:0001252	Hypotonia	-	OMIM:259770
7481	WNT11	HP:0001263	Global developmental delay	1/1	OMIM:612394
7481	WNT11	HP:0001382	Joint hypermobility	-	OMIM:259770
7481	WNT11	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
7481	WNT11	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
7481	WNT11	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
7481	WNT11	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
7481	WNT11	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
7481	WNT11	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
7481	WNT11	HP:0002650	Scoliosis	1/5	OMIM:259770
7481	WNT11	HP:0002650	Scoliosis	1/1	OMIM:612394
7481	WNT11	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
7481	WNT11	HP:0002757	Recurrent fractures	4/5	OMIM:259770
7481	WNT11	HP:0002756	Pathologic fracture	-	OMIM:259770
7481	WNT11	HP:0002756	Pathologic fracture	1/1	OMIM:612394
7481	WNT11	HP:0002751	Kyphoscoliosis	-	OMIM:259770
7481	WNT11	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
7481	WNT11	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
7481	WNT11	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
7481	WNT11	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
7481	WNT11	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
7481	WNT11	HP:0002164	Nail dysplasia	1/1	OMIM:612394
7481	WNT11	HP:0010557	Overlapping fingers	1/2	OMIM:612394
7481	WNT11	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
7481	WNT11	HP:0003593	Infantile onset	1/5	OMIM:259770
7481	WNT11	HP:0003577	Congenital onset	4/5	OMIM:259770
7481	WNT11	HP:0002208	Coarse hair	1/1	OMIM:612394
7481	WNT11	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
7481	WNT11	HP:0025019	Arterial rupture	1/1	OMIM:612394
7481	WNT11	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
7481	WNT11	HP:0001089	Iris atrophy	-	OMIM:259770
7481	WNT11	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
7481	WNT11	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
7481	WNT11	HP:0000618	Blindness	5/5	OMIM:259770
7481	WNT11	HP:0000667	Phthisis bulbi	-	OMIM:259770
7481	WNT11	HP:0004322	Short stature	-	OMIM:259770
7481	WNT11	HP:0003016	Metaphyseal widening	-	OMIM:259770
7481	WNT11	HP:0011461	Fetal onset	2/2	OMIM:612394
7481	WNT11	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
7481	WNT11	HP:0003196	Short nose	1/1	OMIM:612394
7481	WNT11	HP:0000926	Platyspondyly	-	OMIM:259770
7481	WNT11	HP:0000926	Platyspondyly	1/1	OMIM:612394
7481	WNT11	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
7481	WNT11	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
7481	WNT11	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
7481	WNT11	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
7481	WNT11	HP:0000939	Osteoporosis	4/5	OMIM:259770
7481	WNT11	HP:0000938	Osteopenia	1/5	OMIM:259770
7481	WNT11	HP:0000938	Osteopenia	1/1	OMIM:612394
7481	WNT11	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
7481	WNT11	HP:0000272	Malar flattening	1/1	OMIM:612394
7481	WNT11	HP:0007773	Vitreoretinopathy	-	OMIM:259770
7481	WNT11	HP:0002808	Kyphosis	1/5	OMIM:259770
7481	WNT11	HP:0000252	Microcephaly	-	OMIM:259770
7481	WNT11	HP:0001552	Barrel-shaped chest	-	OMIM:259770
7481	WNT11	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
7481	WNT11	HP:0012368	Flat face	1/1	OMIM:612394
7481	WNT11	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
7481	WNT11	HP:0007875	Congenital blindness	4/5	OMIM:259770
7481	WNT11	HP:0007862	Retinal calcification	1/5	OMIM:259770
7481	WNT11	HP:0000369	Low-set ears	2/2	OMIM:612394
7481	WNT11	HP:0002982	Tibial bowing	1/5	OMIM:259770
7481	WNT11	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
7481	WNT11	HP:0001629	Ventricular septal defect	-	OMIM:259770
7481	WNT11	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
7481	WNT11	HP:0000307	Pointed chin	1/2	OMIM:612394
7481	WNT11	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
7481	WNT11	HP:0000463	Anteverted nares	1/1	OMIM:612394
7481	WNT11	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
7481	WNT11	HP:0000518	Cataract	1/5	OMIM:259770
7481	WNT11	HP:0000518	Cataract	1/1	OMIM:612394
7481	WNT11	HP:0000586	Shallow orbits	1/1	OMIM:612394
7481	WNT11	HP:0000568	Microphthalmia	1/5	OMIM:259770
7481	WNT11	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
7481	WNT11	HP:0000545	Myopia	1/1	OMIM:612394
7482	WNT2B	HP:0000007	Autosomal recessive inheritance	-	OMIM:618168
7482	WNT2B	HP:0002014	Diarrhea	20/20	OMIM:618168
7482	WNT2B	HP:0011473	Villous atrophy	-	OMIM:618168
7482	WNT2B	HP:0001508	Failure to thrive	-	OMIM:618168
7484	WNT9B	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1848
7484	WNT9B	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:1848
7484	WNT9B	HP:0000175	Cleft palate	HP:0040283	ORPHA:1848
7484	WNT9B	HP:0000104	Renal agenesis	HP:0040281	ORPHA:1848
7484	WNT9B	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:1848
7484	WNT9B	HP:0100589	Urogenital fistula	HP:0040282	ORPHA:1848
7484	WNT9B	HP:0010497	Sirenomelia	HP:0040283	ORPHA:1848
7484	WNT9B	HP:0002242	Abnormal intestine morphology	HP:0040282	ORPHA:1848
7484	WNT9B	HP:0001958	Nonketotic hypoglycemia	HP:0040281	ORPHA:1848
7484	WNT9B	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1848
7484	WNT9B	HP:0100335	Non-midline cleft of the upper lip	HP:0040283	ORPHA:1848
7484	WNT9B	HP:0000286	Epicanthus	HP:0040281	ORPHA:1848
7484	WNT9B	HP:0005107	Abnormal sacrum morphology	HP:0040282	ORPHA:1848
7484	WNT9B	HP:0001562	Oligohydramnios	HP:0040281	ORPHA:1848
7484	WNT9B	HP:0001563	Fetal polyuria	HP:0040282	ORPHA:1848
7484	WNT9B	HP:0000369	Low-set ears	HP:0040281	ORPHA:1848
7484	WNT9B	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1848
7484	WNT9B	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:1848
7486	WRN	HP:0003777	Pili torti	HP:0040281	ORPHA:902
7486	WRN	HP:0100833	Neoplasm of the small intestine	HP:0040283	ORPHA:902
7486	WRN	HP:0012060	Acral lentiginous melanoma	HP:0040283	ORPHA:902
7486	WRN	HP:0012056	Cutaneous melanoma	HP:0040283	ORPHA:902
7486	WRN	HP:0001387	Joint stiffness	HP:0040283	ORPHA:902
7486	WRN	HP:0000035	Abnormal testis morphology	HP:0040282	ORPHA:902
7486	WRN	HP:0007556	Plantar hyperkeratosis	1/1	OMIM:277700
7486	WRN	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:902
7486	WRN	HP:0007495	Prematurely aged appearance	1/1	OMIM:277700
7486	WRN	HP:0002664	Neoplasm	HP:0040283	ORPHA:902
7486	WRN	HP:0002672	Gastrointestinal carcinoma	HP:0040283	ORPHA:902
7486	WRN	HP:0000007	Autosomal recessive inheritance	-	OMIM:277700
7486	WRN	HP:0002669	Osteosarcoma	10/12	OMIM:277700
7486	WRN	HP:0002621	Atherosclerosis	HP:0040282	ORPHA:902
7486	WRN	HP:0025441	Achilles tendon calcification	2/2	OMIM:277700
7486	WRN	HP:0000144	Decreased fertility	HP:0040282	ORPHA:902
7486	WRN	HP:0000135	Hypogonadism	-	OMIM:277700
7486	WRN	HP:0000135	Hypogonadism	HP:0040281	ORPHA:902
7486	WRN	HP:0007618	Subcutaneous calcification	-	OMIM:277700
7486	WRN	HP:0007618	Subcutaneous calcification	HP:0040282	ORPHA:902
7486	WRN	HP:0005978	Type II diabetes mellitus	HP:0040282	ORPHA:902
7486	WRN	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:902
7486	WRN	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:902
7486	WRN	HP:0100578	Lipoatrophy	HP:0040281	ORPHA:902
7486	WRN	HP:0010468	Aplasia/Hypoplasia of the testes	HP:0040282	ORPHA:902
7486	WRN	HP:0002155	Hypertriglyceridemia	2/2	OMIM:277700
7486	WRN	HP:0003419	Low back pain	1/1	OMIM:277700
7486	WRN	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:902
7486	WRN	HP:0002216	Premature graying of hair	2/2	OMIM:277700
7486	WRN	HP:0002211	White forelock	HP:0040281	ORPHA:902
7486	WRN	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:902
7486	WRN	HP:0010721	Abnormal hair whorl	HP:0040281	ORPHA:902
7486	WRN	HP:0008404	Nail dystrophy	1/1	OMIM:277700
7486	WRN	HP:0009726	Renal neoplasm	HP:0040283	ORPHA:902
7486	WRN	HP:0002293	Alopecia of scalp	1/1	OMIM:277700
7486	WRN	HP:0100649	Neoplasm of the oral cavity	HP:0040283	ORPHA:902
7486	WRN	HP:0100659	Abnormal cerebral vascular morphology	HP:0040283	ORPHA:902
7486	WRN	HP:0100679	Lack of skin elasticity	HP:0040282	ORPHA:902
7486	WRN	HP:0100615	Ovarian neoplasm	HP:0040283	ORPHA:902
7486	WRN	HP:0200042	Skin ulcer	HP:0040282	ORPHA:902
7486	WRN	HP:0200055	Small hand	HP:0040282	ORPHA:902
7486	WRN	HP:0003621	Juvenile onset	1/1	OMIM:277700
7486	WRN	HP:0004322	Short stature	10/11	OMIM:277700
7486	WRN	HP:0004322	Short stature	HP:0040281	ORPHA:902
7486	WRN	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:277700
7486	WRN	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:902
7486	WRN	HP:0004334	Dermal atrophy	2/2	OMIM:277700
7486	WRN	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:277700
7486	WRN	HP:0003074	Hyperglycemia	2/2	OMIM:277700
7486	WRN	HP:0004349	Reduced bone mineral density	1/1	OMIM:277700
7486	WRN	HP:0000765	Abnormal thorax morphology	HP:0040281	ORPHA:902
7486	WRN	HP:0011462	Young adult onset	1/1	OMIM:277700
7486	WRN	HP:0009125	Lipodystrophy	HP:0040282	ORPHA:902
7486	WRN	HP:0004415	Pulmonary artery stenosis	HP:0040282	ORPHA:902
7486	WRN	HP:0000855	Insulin resistance	HP:0040282	ORPHA:902
7486	WRN	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:902
7486	WRN	HP:0100324	Scleroderma	-	OMIM:277700
7486	WRN	HP:0000819	Diabetes mellitus	2/2	OMIM:277700
7486	WRN	HP:0000822	Hypertension	HP:0040283	ORPHA:902
7486	WRN	HP:0040217	Elevated hemoglobin A1c	2/2	OMIM:277700
7486	WRN	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:902
7486	WRN	HP:0033047	Body ache	1/1	OMIM:277700
7486	WRN	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:902
7486	WRN	HP:0000939	Osteoporosis	11/11	OMIM:277700
7486	WRN	HP:0000939	Osteoporosis	HP:0040281	ORPHA:902
7486	WRN	HP:0000934	Chondrocalcinosis	HP:0040282	ORPHA:902
7486	WRN	HP:0100242	Sarcoma	HP:0040283	ORPHA:902
7486	WRN	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:902
7486	WRN	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:902
7486	WRN	HP:0000275	Narrow face	HP:0040282	ORPHA:902
7486	WRN	HP:0002890	Thyroid carcinoma	HP:0040283	ORPHA:902
7486	WRN	HP:0002861	Melanoma	HP:0040283	ORPHA:902
7486	WRN	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:902
7486	WRN	HP:0002858	Meningioma	HP:0040283	ORPHA:902
7486	WRN	HP:0002858	Meningioma	10/12	OMIM:277700
7486	WRN	HP:0001533	Slender build	HP:0040281	ORPHA:902
7486	WRN	HP:0002863	Myelodysplasia	1/2	OMIM:277700
7486	WRN	HP:0005268	Miscarriage	HP:0040283	ORPHA:902
7486	WRN	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:902
7486	WRN	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:902
7486	WRN	HP:0005177	Premature arteriosclerosis	10/11	OMIM:277700
7486	WRN	HP:0011001	Increased bone mineral density	HP:0040282	ORPHA:902
7486	WRN	HP:0000320	Bird-like facies	1/1	OMIM:277700
7486	WRN	HP:0001658	Myocardial infarction	HP:0040282	ORPHA:902
7486	WRN	HP:0001620	Abnormally high-pitched voice	2/2	OMIM:277700
7486	WRN	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:902
7486	WRN	HP:0005328	Progeroid facial appearance	2/2	OMIM:277700
7486	WRN	HP:0000444	Convex nasal ridge	2/2	OMIM:277700
7486	WRN	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:902
7486	WRN	HP:0000518	Cataract	2/2	OMIM:277700
7486	WRN	HP:0000518	Cataract	HP:0040281	ORPHA:902
7486	WRN	HP:0001838	Rocker bottom foot	HP:0040282	ORPHA:902
7486	WRN	HP:0000546	Retinal degeneration	10/12	OMIM:277700
7490	WT1	HP:0001153	Septate vagina	6/13	OMIM:608978
7490	WT1	HP:0001153	Septate vagina	1/1	OMIM:194080
7490	WT1	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
7490	WT1	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:194080
7490	WT1	HP:0003774	Stage 5 chronic kidney disease	3/3	OMIM:136680
7490	WT1	HP:0025193	Posterolateral diaphragmatic hernia	1/1	OMIM:194080
7490	WT1	HP:0010923	Anterior subcapsular cataract	1/1	OMIM:106210
7490	WT1	HP:0001195	Single umbilical artery	1/13	OMIM:608978
7490	WT1	HP:0009918	Ectopia pupillae	1/1	OMIM:106210
7490	WT1	HP:0003762	Uterus didelphys	1/1	OMIM:194080
7490	WT1	HP:0007299	Dysfunction of lateral corticospinal tracts	HP:0040283	ORPHA:893
7490	WT1	HP:0100820	Glomerulopathy	HP:0040280	ORPHA:347
7490	WT1	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
7490	WT1	HP:0002585	Abnormal peritoneum morphology	HP:0040281	ORPHA:83469
7490	WT1	HP:0001249	Intellectual disability	HP:0040282	OMIM:194072
7490	WT1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:893
7490	WT1	HP:0002595	Ileus	HP:0040282	ORPHA:83469
7490	WT1	HP:0008726	Hypoplasia of the vagina	HP:0040281	ORPHA:251510
7490	WT1	HP:0008730	Female external genitalia in individual with 46,XY karyotype	HP:0040281	ORPHA:251510
7490	WT1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:251510
7490	WT1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:3097
7490	WT1	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:251510
7490	WT1	HP:0008715	Testicular dysgenesis	HP:0040281	ORPHA:242
7490	WT1	HP:0008723	Gonadal dysgenesis with female appearance, male	HP:0040281	ORPHA:347
7490	WT1	HP:0008665	Clitoral hypertrophy	HP:0040281	ORPHA:251510
7490	WT1	HP:0003826	Stillbirth	1/13	OMIM:608978
7490	WT1	HP:0003819	Death in childhood	1/13	OMIM:608978
7490	WT1	HP:0003811	Neonatal death	1/1	OMIM:194080
7490	WT1	HP:0003811	Neonatal death	8/13	OMIM:608978
7490	WT1	HP:0000083	Renal insufficiency	10/46	OMIM:194072
7490	WT1	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:347
7490	WT1	HP:0000083	Renal insufficiency	-	OMIM:256370
7490	WT1	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:654
7490	WT1	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:3097
7490	WT1	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:654
7490	WT1	HP:0000085	Horseshoe kidney	1/8	OMIM:608978
7490	WT1	HP:0000097	Focal segmental glomerulosclerosis	HP:0040281	ORPHA:347
7490	WT1	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
7490	WT1	HP:0000097	Focal segmental glomerulosclerosis	HP:0040283	OMIM:256370
7490	WT1	HP:0000097	Focal segmental glomerulosclerosis	1/1	OMIM:194080
7490	WT1	HP:0000097	Focal segmental glomerulosclerosis	2/3	OMIM:136680
7490	WT1	HP:0000093	Proteinuria	3/3	OMIM:136680
7490	WT1	HP:0000093	Proteinuria	HP:0040281	ORPHA:347
7490	WT1	HP:0000093	Proteinuria	HP:0040281	ORPHA:220
7490	WT1	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
7490	WT1	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:3097
7490	WT1	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:251510
7490	WT1	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:893
7490	WT1	HP:0000061	Ambiguous genitalia, female	-	OMIM:194080
7490	WT1	HP:0000058	Abnormal labia morphology	HP:0040281	ORPHA:251510
7490	WT1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:242
7490	WT1	HP:0000045	Abnormal scrotum morphology	HP:0040281	ORPHA:251510
7490	WT1	HP:0000037	Male pseudohermaphroditism	13/13	OMIM:608978
7490	WT1	HP:0000037	Male pseudohermaphroditism	1/1	OMIM:194080
7490	WT1	HP:0000037	Male pseudohermaphroditism	HP:0040280	ORPHA:347
7490	WT1	HP:0000037	Male pseudohermaphroditism	3/3	OMIM:136680
7490	WT1	HP:0000037	Male pseudohermaphroditism	HP:0040281	ORPHA:220
7490	WT1	HP:0000037	Male pseudohermaphroditism	HP:0040281	ORPHA:242
7490	WT1	HP:0000054	Micropenis	HP:0040281	ORPHA:251510
7490	WT1	HP:0012020	Right aortic arch	1/13	OMIM:608978
7490	WT1	HP:0000047	Hypospadias	HP:0040283	ORPHA:654
7490	WT1	HP:0000047	Hypospadias	HP:0040281	ORPHA:251510
7490	WT1	HP:0000047	Hypospadias	HP:0040282	OMIM:194072
7490	WT1	HP:0000033	Ambiguous genitalia, male	-	OMIM:194080
7490	WT1	HP:0000033	Ambiguous genitalia, male	HP:0040280	ORPHA:347
7490	WT1	HP:0000030	Testicular gonadoblastoma	HP:0040283	ORPHA:251510
7490	WT1	HP:0033834	Malaise	HP:0040283	ORPHA:654
7490	WT1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:251510
7490	WT1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3097
7490	WT1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:654
7490	WT1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:893
7490	WT1	HP:0000028	Cryptorchidism	HP:0040282	OMIM:194072
7490	WT1	HP:0000027	Azoospermia	HP:0040281	ORPHA:251510
7490	WT1	HP:0002664	Neoplasm	HP:0040281	ORPHA:654
7490	WT1	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:347
7490	WT1	HP:0002667	Nephroblastoma	HP:0040281	ORPHA:220
7490	WT1	HP:0002667	Nephroblastoma	HP:0040281	ORPHA:654
7490	WT1	HP:0002667	Nephroblastoma	-	OMIM:256370
7490	WT1	HP:0002667	Nephroblastoma	-	OMIM:194080
7490	WT1	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:251510
7490	WT1	HP:0002667	Nephroblastoma	HP:0040282	OMIM:194072
7490	WT1	HP:0002667	Nephroblastoma	-	OMIM:194070
7490	WT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:136680
7490	WT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:608978
7490	WT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:256370
7490	WT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:106210
7490	WT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:194080
7490	WT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:194072
7490	WT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:194070
7490	WT1	HP:0033743	Macular agenesis	1/9	OMIM:106210
7490	WT1	HP:0002650	Scoliosis	HP:0040283	ORPHA:893
7490	WT1	HP:0002643	Neonatal respiratory distress	1/1	OMIM:194080
7490	WT1	HP:0031105	Abnormal uterus morphology	HP:0040283	ORPHA:654
7490	WT1	HP:0001488	Bilateral ptosis	1/1	OMIM:106210
7490	WT1	HP:0000142	Abnormal vagina morphology	HP:0040281	ORPHA:3097
7490	WT1	HP:0000142	Abnormal vagina morphology	HP:0040281	ORPHA:251510
7490	WT1	HP:0000142	Abnormal vagina morphology	HP:0040282	OMIM:194072
7490	WT1	HP:0001466	Contiguous gene syndrome	-	OMIM:194072
7490	WT1	HP:0000150	Gonadoblastoma	HP:0040282	ORPHA:251510
7490	WT1	HP:0000150	Gonadoblastoma	HP:0040283	OMIM:194072
7490	WT1	HP:0000150	Gonadoblastoma	HP:0040282	ORPHA:347
7490	WT1	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:242
7490	WT1	HP:0000149	Ovarian gonadoblastoma	1/1	OMIM:136680
7490	WT1	HP:0000149	Ovarian gonadoblastoma	HP:0040283	ORPHA:251510
7490	WT1	HP:0000149	Ovarian gonadoblastoma	-	OMIM:194080
7490	WT1	HP:0000148	Vaginal atresia	HP:0040281	ORPHA:3097
7490	WT1	HP:0007676	Hypoplasia of the iris	1/1	OMIM:106210
7490	WT1	HP:0000133	Gonadal dysgenesis	-	OMIM:194080
7490	WT1	HP:0000133	Gonadal dysgenesis	3/3	OMIM:136680
7490	WT1	HP:0000133	Gonadal dysgenesis	HP:0040283	ORPHA:220
7490	WT1	HP:0000133	Gonadal dysgenesis	HP:0040281	ORPHA:251510
7490	WT1	HP:0000130	Abnormality of the uterus	HP:0040283	OMIM:194072
7490	WT1	HP:0000100	Nephrotic syndrome	-	OMIM:256370
7490	WT1	HP:0000100	Nephrotic syndrome	-	OMIM:194080
7490	WT1	HP:0000100	Nephrotic syndrome	3/3	OMIM:136680
7490	WT1	HP:0000100	Nephrotic syndrome	HP:0040284	ORPHA:251510
7490	WT1	HP:0000100	Nephrotic syndrome	HP:0040282	ORPHA:347
7490	WT1	HP:0000100	Nephrotic syndrome	HP:0040281	ORPHA:220
7490	WT1	HP:0000112	Nephropathy	HP:0040281	ORPHA:220
7490	WT1	HP:0000112	Nephropathy	-	OMIM:194080
7490	WT1	HP:0000112	Nephropathy	40%	OMIM:194072
7490	WT1	HP:0001442	Typified by somatic mosaicism	-	OMIM:194080
7490	WT1	HP:0001442	Typified by somatic mosaicism	-	OMIM:136680
7490	WT1	HP:0001442	Typified by somatic mosaicism	-	OMIM:194072
7490	WT1	HP:0001442	Typified by somatic mosaicism	-	OMIM:194070
7490	WT1	HP:0001442	Typified by somatic mosaicism	-	OMIM:156240
7490	WT1	HP:0000105	Enlarged kidney	2/8	OMIM:608978
7490	WT1	HP:0000105	Enlarged kidney	1/1	OMIM:194080
7490	WT1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:251510
7490	WT1	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:83469
7490	WT1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:654
7490	WT1	HP:0032592	Aplasia of the right hemidiaphragm	4/13	OMIM:608978
7490	WT1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:83469
7490	WT1	HP:0002027	Abdominal pain	HP:0040281	ORPHA:83469
7490	WT1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:654
7490	WT1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
7490	WT1	HP:0040314	Blind vagina	1/13	OMIM:608978
7490	WT1	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:83469
7490	WT1	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:654
7490	WT1	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
7490	WT1	HP:0002089	Pulmonary hypoplasia	10/13	OMIM:608978
7490	WT1	HP:0002094	Dyspnea	HP:0040284	ORPHA:654
7490	WT1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:106210
7490	WT1	HP:0011720	Cardiac total anomalous pulmonary venous connection	1/13	OMIM:608978
7490	WT1	HP:0008193	Primary gonadal insufficiency	HP:0040283	ORPHA:251510
7490	WT1	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:251510
7490	WT1	HP:0010464	Streak ovary	HP:0040282	ORPHA:347
7490	WT1	HP:0010464	Streak ovary	HP:0040281	ORPHA:251510
7490	WT1	HP:0010464	Streak ovary	HP:0040282	OMIM:194072
7490	WT1	HP:0010459	True hermaphroditism	-	OMIM:194080
7490	WT1	HP:0002126	Polymicrogyria	-	OMIM:106210
7490	WT1	HP:0002101	Abnormal lung lobation	HP:0040282	ORPHA:3097
7490	WT1	HP:0004736	Crossed fused renal ectopia	HP:0040283	ORPHA:3097
7490	WT1	HP:0033210	Congenital alveolar dysplasia	1/13	OMIM:608978
7490	WT1	HP:0008232	Elevated circulating follicle stimulating hormone level	HP:0040281	ORPHA:251510
7490	WT1	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:347
7490	WT1	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:251510
7490	WT1	HP:0003577	Congenital onset	9/9	OMIM:106210
7490	WT1	HP:0003577	Congenital onset	-	OMIM:608978
7490	WT1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:83469
7490	WT1	HP:0002215	Sparse axillary hair	HP:0040281	ORPHA:251510
7490	WT1	HP:0002225	Sparse pubic hair	HP:0040281	ORPHA:251510
7490	WT1	HP:0100779	Urogenital sinus anomaly	HP:0040281	ORPHA:251510
7490	WT1	HP:0100721	Mediastinal lymphadenopathy	HP:0040282	ORPHA:83469
7490	WT1	HP:0008330	Reduced von Willebrand factor activity	HP:0040283	ORPHA:654
7490	WT1	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040281	ORPHA:251510
7490	WT1	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
7490	WT1	HP:0003676	Progressive	-	OMIM:256370
7490	WT1	HP:0002315	Headache	HP:0040283	ORPHA:656
7490	WT1	HP:0200020	Corneal erosion	1/1	OMIM:106210
7490	WT1	HP:0100615	Ovarian neoplasm	HP:0040283	ORPHA:83469
7490	WT1	HP:0100627	Displacement of the urethral meatus	HP:0040282	ORPHA:893
7490	WT1	HP:0001083	Ectopia lentis	1/9	OMIM:106210
7490	WT1	HP:0100632	Pulmonary sequestration	HP:0040282	ORPHA:3097
7490	WT1	HP:0010788	Testicular neoplasm	HP:0040283	ORPHA:83469
7490	WT1	HP:0010773	Partial anomalous pulmonary venous return	1/13	OMIM:608978
7490	WT1	HP:0010772	Anomalous pulmonary venous return	HP:0040283	ORPHA:3097
7490	WT1	HP:0031883	Increased proinsulin:insulin ratio	-	OMIM:106210
7490	WT1	HP:0005580	Duplication of renal pelvis	HP:0040282	ORPHA:654
7490	WT1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
7490	WT1	HP:0000639	Nystagmus	8/10	OMIM:106210
7490	WT1	HP:0000639	Nystagmus	HP:0040282	ORPHA:893
7490	WT1	HP:0001967	Diffuse mesangial sclerosis	-	OMIM:256370
7490	WT1	HP:0001967	Diffuse mesangial sclerosis	-	OMIM:194080
7490	WT1	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
7490	WT1	HP:0001945	Fever	HP:0040283	ORPHA:654
7490	WT1	HP:0001945	Fever	HP:0040283	ORPHA:656
7490	WT1	HP:0001952	Glucose intolerance	-	OMIM:106210
7490	WT1	HP:0000609	Optic nerve hypoplasia	-	OMIM:106210
7490	WT1	HP:0001903	Anemia	HP:0040283	ORPHA:654
7490	WT1	HP:0001903	Anemia	HP:0040283	ORPHA:83469
7490	WT1	HP:0001901	Polycythemia	HP:0040283	ORPHA:654
7490	WT1	HP:0004322	Short stature	HP:0040282	ORPHA:893
7490	WT1	HP:0004326	Cachexia	HP:0040283	ORPHA:83469
7490	WT1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040284	ORPHA:251510
7490	WT1	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
7490	WT1	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:654
7490	WT1	HP:0004383	Hypoplastic left heart	5/13	OMIM:608978
7490	WT1	HP:0004383	Hypoplastic left heart	HP:0040282	ORPHA:3097
7490	WT1	HP:0034198	Second trimester onset	1/1	OMIM:194080
7490	WT1	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:83469
7490	WT1	HP:0000771	Gynecomastia	HP:0040281	ORPHA:251510
7490	WT1	HP:0000737	Irritability	HP:0040283	ORPHA:656
7490	WT1	HP:0100001	Malignant mesothelioma	-	OMIM:156240
7490	WT1	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
7490	WT1	HP:0011496	Corneal neovascularization	5/10	OMIM:106210
7490	WT1	HP:0011463	Childhood onset	-	OMIM:256370
7490	WT1	HP:0000776	Congenital diaphragmatic hernia	HP:0040281	ORPHA:3097
7490	WT1	HP:0000776	Congenital diaphragmatic hernia	-	OMIM:194080
7490	WT1	HP:0009110	Diaphragmatic eventration	2/13	OMIM:608978
7490	WT1	HP:0009112	Aplasia of the left hemidiaphragm	7/13	OMIM:608978
7490	WT1	HP:0000786	Primary amenorrhea	3/3	OMIM:136680
7490	WT1	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:251510
7490	WT1	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:347
7490	WT1	HP:0012870	Vanishing testis	HP:0040281	ORPHA:251510
7490	WT1	HP:0012871	Varicocele	HP:0040283	ORPHA:654
7490	WT1	HP:0012841	Retinal vascular tortuosity	1/1	OMIM:106210
7490	WT1	HP:0000868	Decreased fertility in females	HP:0040281	ORPHA:251510
7490	WT1	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:347
7490	WT1	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:251510
7490	WT1	HP:0000846	Adrenal insufficiency	HP:0040283	ORPHA:251510
7490	WT1	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:347
7490	WT1	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:251510
7490	WT1	HP:0000813	Bicornuate uterus	2/13	OMIM:608978
7490	WT1	HP:0000812	Abnormal internal genitalia	HP:0040281	ORPHA:251510
7490	WT1	HP:0000822	Hypertension	HP:0040282	ORPHA:347
7490	WT1	HP:0000822	Hypertension	HP:0040282	ORPHA:220
7490	WT1	HP:0000822	Hypertension	HP:0040283	ORPHA:654
7490	WT1	HP:0000822	Hypertension	-	OMIM:194080
7490	WT1	HP:0000823	Delayed puberty	HP:0040282	ORPHA:251510
7490	WT1	HP:0040030	Chorioretinal hypopigmentation	1/1	OMIM:106210
7490	WT1	HP:0011565	Common atrium	1/13	OMIM:608978
7490	WT1	HP:0003270	Abdominal distention	HP:0040281	ORPHA:83469
7490	WT1	HP:0003251	Male infertility	HP:0040281	ORPHA:251510
7490	WT1	HP:0003248	Gonadal tissue inappropriate for external genitalia or chromosomal sex	-	OMIM:194080
7490	WT1	HP:0011626	Scimitar anomaly	1/13	OMIM:608978
7490	WT1	HP:0000969	Edema	HP:0040281	ORPHA:656
7490	WT1	HP:0000939	Osteoporosis	HP:0040281	ORPHA:251510
7490	WT1	HP:0100242	Sarcoma	HP:0040281	ORPHA:83469
7490	WT1	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:251510
7490	WT1	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040281	ORPHA:893
7490	WT1	HP:0000286	Epicanthus	1/1	OMIM:194080
7490	WT1	HP:0000260	Wide anterior fontanel	1/1	OMIM:194080
7490	WT1	HP:0012244	Abnormal sex determination	HP:0040281	ORPHA:251510
7490	WT1	HP:0007759	Opacification of the corneal stroma	-	OMIM:106210
7490	WT1	HP:0007750	Hypoplasia of the fovea	11/11	OMIM:106210
7490	WT1	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:654
7490	WT1	HP:0000252	Microcephaly	HP:0040282	ORPHA:893
7490	WT1	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:83469
7490	WT1	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:893
7490	WT1	HP:0030010	Hydrometrocolpos	HP:0040282	ORPHA:3097
7490	WT1	HP:0001528	Hemihypertrophy	HP:0040283	ORPHA:654
7490	WT1	HP:0001522	Death in infancy	3/13	OMIM:608978
7490	WT1	HP:0001541	Ascites	HP:0040283	ORPHA:83469
7490	WT1	HP:0001513	Obesity	4/20	OMIM:194072
7490	WT1	HP:0001513	Obesity	HP:0040283	ORPHA:893
7490	WT1	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
7490	WT1	HP:0031500	Abdominal mass	HP:0040281	ORPHA:654
7490	WT1	HP:0011027	Abnormal fallopian tube morphology	HP:0040281	ORPHA:3097
7490	WT1	HP:0002907	Microscopic hematuria	HP:0040283	ORPHA:654
7490	WT1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:3097
7490	WT1	HP:0000364	Hearing abnormality	HP:0040282	ORPHA:893
7490	WT1	HP:0001669	Transposition of the great arteries	1/13	OMIM:608978
7490	WT1	HP:0001669	Transposition of the great arteries	HP:0040283	ORPHA:3097
7490	WT1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:3097
7490	WT1	HP:0001680	Coarctation of aorta	2/13	OMIM:608978
7490	WT1	HP:0000347	Micrognathia	HP:0040282	ORPHA:893
7490	WT1	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:3097
7490	WT1	HP:0001651	Dextrocardia	2/13	OMIM:608978
7490	WT1	HP:0001647	Bicuspid aortic valve	1/13	OMIM:608978
7490	WT1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:3097
7490	WT1	HP:0001643	Patent ductus arteriosus	1/13	OMIM:608978
7490	WT1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:3097
7490	WT1	HP:0001629	Ventricular septal defect	3/13	OMIM:608978
7490	WT1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:3097
7490	WT1	HP:0001636	Tetralogy of Fallot	1/13	OMIM:608978
7490	WT1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:3097
7490	WT1	HP:0001631	Atrial septal defect	3/13	OMIM:608978
7490	WT1	HP:0005301	Persistent left superior vena cava	1/13	OMIM:608978
7490	WT1	HP:0001710	Conotruncal defect	HP:0040283	ORPHA:3097
7490	WT1	HP:0000486	Strabismus	4/10	OMIM:106210
7490	WT1	HP:0001747	Accessory spleen	2/13	OMIM:608978
7490	WT1	HP:0001743	Abnormality of the spleen	HP:0040283	ORPHA:3097
7490	WT1	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040281	ORPHA:3097
7490	WT1	HP:0000518	Cataract	HP:0040282	ORPHA:893
7490	WT1	HP:0000518	Cataract	2/9	OMIM:106210
7490	WT1	HP:0000526	Aniridia	HP:0040281	OMIM:194072
7490	WT1	HP:0000526	Aniridia	19/19	OMIM:106210
7490	WT1	HP:0000526	Aniridia	HP:0040283	ORPHA:654
7490	WT1	HP:0001824	Weight loss	HP:0040282	ORPHA:83469
7490	WT1	HP:0001824	Weight loss	HP:0040283	ORPHA:654
7490	WT1	HP:0000508	Ptosis	6/10	OMIM:106210
7490	WT1	HP:0000508	Ptosis	HP:0040282	ORPHA:893
7490	WT1	HP:0000505	Visual impairment	HP:0040282	ORPHA:893
7490	WT1	HP:0000501	Glaucoma	7/19	OMIM:106210
7490	WT1	HP:0000501	Glaucoma	HP:0040283	ORPHA:893
7490	WT1	HP:0012587	Macroscopic hematuria	HP:0040282	ORPHA:654
7490	WT1	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
7490	WT1	HP:0000577	Exotropia	1/1	OMIM:106210
7498	XDH	HP:0010934	Xanthinuria	-	OMIM:278300
7498	XDH	HP:0010933	Hyperxanthinemia	4/4	OMIM:278300
7498	XDH	HP:0000007	Autosomal recessive inheritance	-	OMIM:278300
7498	XDH	HP:0000126	Hydronephrosis	-	OMIM:278300
7498	XDH	HP:6000218	Reduced circulating xanthine oxidase activity	4/4	OMIM:278300
7498	XDH	HP:0004732	Impaired renal uric acid clearance	3/3	OMIM:278300
7498	XDH	HP:0003537	Hypouricemia	4/4	OMIM:278300
7498	XDH	HP:0003534	Reduced xanthine dehydrogenase level	-	OMIM:278300
7498	XDH	HP:0000804	Xanthine nephrolithiasis	-	OMIM:278300
7498	XDH	HP:0003198	Myopathy	-	OMIM:278300
7498	XDH	HP:0012330	Pyelonephritis	-	OMIM:278300
7504	XK	HP:0001250	Seizure	6/12	OMIM:300842
7504	XK	HP:0001260	Dysarthria	10/13	OMIM:300842
7504	XK	HP:0012075	Personality disorder	-	OMIM:300842
7504	XK	HP:0012046	Areflexia of upper limbs	8/21	OMIM:300842
7504	XK	HP:0001332	Dystonia	5/13	OMIM:300842
7504	XK	HP:0001324	Muscle weakness	13/20	OMIM:300842
7504	XK	HP:0025435	Increased circulating lactate dehydrogenase concentration	10/11	OMIM:300842
7504	XK	HP:0001417	X-linked inheritance	-	OMIM:300842
7504	XK	HP:0002072	Chorea	18/19	OMIM:300842
7504	XK	HP:0030948	Elevated gamma-glutamyltransferase level	4/12	OMIM:300842
7504	XK	HP:0003438	Absent Achilles reflex	18/20	OMIM:300842
7504	XK	HP:0002197	Generalized-onset seizure	-	OMIM:300842
7504	XK	HP:0002240	Hepatomegaly	5/12	OMIM:300842
7504	XK	HP:0003581	Adult onset	22/22	OMIM:300842
7504	XK	HP:0007002	Motor axonal neuropathy	-	OMIM:300842
7504	XK	HP:0100660	Dyskinesia	-	OMIM:300842
7504	XK	HP:0020181	Reduced haptoglobin level	4/5	OMIM:300842
7504	XK	HP:0001927	Acanthocytosis	22/22	OMIM:300842
7504	XK	HP:0031956	Elevated circulating aspartate aminotransferase concentration	5/15	OMIM:300842
7504	XK	HP:0031964	Elevated circulating alanine aminotransferase concentration	5/15	OMIM:300842
7504	XK	HP:0006938	Impaired vibration sensation at ankles	6/15	OMIM:300842
7504	XK	HP:0000739	Anxiety	-	OMIM:300842
7504	XK	HP:0000716	Depression	-	OMIM:300842
7504	XK	HP:0000722	Compulsive behaviors	-	OMIM:300842
7504	XK	HP:0003198	Myopathy	8/10	OMIM:300842
7504	XK	HP:0003236	Elevated circulating creatine kinase concentration	22/22	OMIM:300842
7504	XK	HP:0003201	Rhabdomyolysis	HP:0040283	OMIM:300842
7504	XK	HP:0005110	Atrial fibrillation	5/22	OMIM:300842
7504	XK	HP:0001644	Dilated cardiomyopathy	2/22	OMIM:300842
7504	XK	HP:0001638	Cardiomyopathy	4/22	OMIM:300842
7504	XK	HP:0001744	Splenomegaly	5/13	OMIM:300842
7507	XPA	HP:0001268	Mental deterioration	1/1	OMIM:278700
7507	XPA	HP:0001250	Seizure	HP:0040283	ORPHA:910
7507	XPA	HP:0001251	Ataxia	HP:0040283	ORPHA:910
7507	XPA	HP:0001251	Ataxia	-	OMIM:278700
7507	XPA	HP:0001249	Intellectual disability	-	OMIM:278700
7507	XPA	HP:0001265	Hyporeflexia	-	OMIM:278700
7507	XPA	HP:0001266	Choreoathetosis	-	OMIM:278700
7507	XPA	HP:0001257	Spasticity	HP:0040283	ORPHA:910
7507	XPA	HP:0001257	Spasticity	-	OMIM:278700
7507	XPA	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:910
7507	XPA	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:910
7507	XPA	HP:0002664	Neoplasm	HP:0040283	ORPHA:910
7507	XPA	HP:0000007	Autosomal recessive inheritance	-	OMIM:278700
7507	XPA	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:910
7507	XPA	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:910
7507	XPA	HP:0000135	Hypogonadism	HP:0040281	ORPHA:910
7507	XPA	HP:0001480	Freckling	HP:0040281	ORPHA:910
7507	XPA	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:910
7507	XPA	HP:0003355	Aminoaciduria	HP:0040283	ORPHA:910
7507	XPA	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:910
7507	XPA	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:910
7507	XPA	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:910
7507	XPA	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:910
7507	XPA	HP:0010649	Flat nasal alae	HP:0040283	ORPHA:910
7507	XPA	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:910
7507	XPA	HP:0001059	Pterygium	HP:0040283	ORPHA:910
7507	XPA	HP:0001034	Hypermelanotic macule	1/1	OMIM:278700
7507	XPA	HP:0001034	Hypermelanotic macule	HP:0040282	ORPHA:910
7507	XPA	HP:0001029	Poikiloderma	-	OMIM:278700
7507	XPA	HP:0001029	Poikiloderma	HP:0040281	ORPHA:910
7507	XPA	HP:0002376	Developmental regression	HP:0040281	ORPHA:910
7507	XPA	HP:0001009	Telangiectasia	-	OMIM:278700
7507	XPA	HP:0001009	Telangiectasia	HP:0040281	ORPHA:910
7507	XPA	HP:0002353	EEG abnormality	HP:0040281	ORPHA:910
7507	XPA	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:910
7507	XPA	HP:0001072	Thickened skin	HP:0040281	ORPHA:910
7507	XPA	HP:0010783	Erythema	HP:0040282	ORPHA:910
7507	XPA	HP:0009755	Ankyloblepharon	HP:0040283	ORPHA:910
7507	XPA	HP:0003623	Neonatal onset	1/1	OMIM:278700
7507	XPA	HP:0003621	Juvenile onset	1/1	OMIM:278700
7507	XPA	HP:0006887	Intellectual disability, progressive	HP:0040281	ORPHA:910
7507	XPA	HP:0000648	Optic atrophy	HP:0040281	ORPHA:910
7507	XPA	HP:0000613	Photophobia	HP:0040283	ORPHA:910
7507	XPA	HP:0001945	Fever	HP:0040281	ORPHA:910
7507	XPA	HP:0000621	Entropion	-	OMIM:278700
7507	XPA	HP:0000621	Entropion	HP:0040283	ORPHA:910
7507	XPA	HP:0000656	Ectropion	-	OMIM:278700
7507	XPA	HP:0000656	Ectropion	HP:0040283	ORPHA:910
7507	XPA	HP:0004322	Short stature	HP:0040283	ORPHA:910
7507	XPA	HP:0004334	Dermal atrophy	-	OMIM:278700
7507	XPA	HP:0004334	Dermal atrophy	HP:0040282	ORPHA:910
7507	XPA	HP:0003079	Defective DNA repair after ultraviolet radiation damage	-	OMIM:278700
7507	XPA	HP:0100012	Neoplasm of the eye	HP:0040283	ORPHA:910
7507	XPA	HP:0012733	Macule	HP:0040282	ORPHA:910
7507	XPA	HP:0012740	Papilloma	HP:0040282	ORPHA:910
7507	XPA	HP:0034275	Verrucous epidermal nevus	1/1	OMIM:278700
7507	XPA	HP:0004493	Craniofacial hyperostosis	HP:0040283	ORPHA:910
7507	XPA	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:910
7507	XPA	HP:0000992	Cutaneous photosensitivity	1/1	OMIM:278700
7507	XPA	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:910
7507	XPA	HP:0000958	Dry skin	HP:0040281	ORPHA:910
7507	XPA	HP:0000963	Thin skin	HP:0040281	ORPHA:910
7507	XPA	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:910
7507	XPA	HP:0001596	Alopecia	HP:0040283	ORPHA:910
7507	XPA	HP:0007759	Opacification of the corneal stroma	HP:0040283	ORPHA:910
7507	XPA	HP:0002829	Arthralgia	HP:0040281	ORPHA:910
7507	XPA	HP:0000252	Microcephaly	HP:0040283	ORPHA:910
7507	XPA	HP:0000252	Microcephaly	-	OMIM:278700
7507	XPA	HP:0002861	Melanoma	-	OMIM:278700
7507	XPA	HP:0002861	Melanoma	HP:0040282	ORPHA:910
7507	XPA	HP:0001508	Failure to thrive	HP:0040281	ORPHA:910
7507	XPA	HP:0012378	Fatigue	HP:0040281	ORPHA:910
7507	XPA	HP:0002936	Distal sensory impairment	1/1	OMIM:278700
7507	XPA	HP:0000365	Hearing impairment	HP:0040283	ORPHA:910
7507	XPA	HP:0000498	Blepharitis	HP:0040283	ORPHA:910
7507	XPA	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:910
7507	XPA	HP:0000407	Sensorineural hearing impairment	-	OMIM:278700
7507	XPA	HP:0000486	Strabismus	HP:0040282	ORPHA:910
7507	XPA	HP:0000491	Keratitis	-	OMIM:278700
7507	XPA	HP:0000491	Keratitis	HP:0040282	ORPHA:910
7507	XPA	HP:0001761	Pes cavus	1/1	OMIM:278700
7507	XPA	HP:0006739	Squamous cell carcinoma of the skin	1/1	OMIM:278700
7507	XPA	HP:0000518	Cataract	HP:0040282	ORPHA:910
7507	XPA	HP:0000524	Conjunctival telangiectasia	HP:0040281	ORPHA:910
7507	XPA	HP:0000509	Conjunctivitis	-	OMIM:278700
7507	XPA	HP:0030350	Erythematous papule	1/1	OMIM:278700
7508	XPC	HP:0025127	Actinic keratosis	2/2	OMIM:278720
7508	XPC	HP:0001250	Seizure	HP:0040283	ORPHA:910
7508	XPC	HP:0001251	Ataxia	HP:0040283	ORPHA:910
7508	XPC	HP:0001257	Spasticity	HP:0040283	ORPHA:910
7508	XPC	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:910
7508	XPC	HP:0012056	Cutaneous melanoma	2/4	OMIM:278720
7508	XPC	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:910
7508	XPC	HP:0002664	Neoplasm	HP:0040283	ORPHA:910
7508	XPC	HP:0002671	Basal cell carcinoma	2/4	OMIM:278720
7508	XPC	HP:0000007	Autosomal recessive inheritance	-	OMIM:278720
7508	XPC	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:910
7508	XPC	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:910
7508	XPC	HP:0000135	Hypogonadism	HP:0040281	ORPHA:910
7508	XPC	HP:0001480	Freckling	2/4	OMIM:278720
7508	XPC	HP:0001480	Freckling	HP:0040281	ORPHA:910
7508	XPC	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:910
7508	XPC	HP:0003355	Aminoaciduria	HP:0040283	ORPHA:910
7508	XPC	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:910
7508	XPC	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:910
7508	XPC	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:910
7508	XPC	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:910
7508	XPC	HP:0010649	Flat nasal alae	HP:0040283	ORPHA:910
7508	XPC	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:910
7508	XPC	HP:0001059	Pterygium	HP:0040283	ORPHA:910
7508	XPC	HP:0001034	Hypermelanotic macule	HP:0040282	ORPHA:910
7508	XPC	HP:0001029	Poikiloderma	-	OMIM:278720
7508	XPC	HP:0001029	Poikiloderma	HP:0040281	ORPHA:910
7508	XPC	HP:0002376	Developmental regression	HP:0040281	ORPHA:910
7508	XPC	HP:0001010	Hypopigmentation of the skin	-	OMIM:278720
7508	XPC	HP:0001009	Telangiectasia	2/2	OMIM:278720
7508	XPC	HP:0001009	Telangiectasia	HP:0040281	ORPHA:910
7508	XPC	HP:0002353	EEG abnormality	HP:0040281	ORPHA:910
7508	XPC	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:910
7508	XPC	HP:0001072	Thickened skin	HP:0040281	ORPHA:910
7508	XPC	HP:0010783	Erythema	HP:0040282	ORPHA:910
7508	XPC	HP:0009755	Ankyloblepharon	HP:0040283	ORPHA:910
7508	XPC	HP:0006887	Intellectual disability, progressive	HP:0040281	ORPHA:910
7508	XPC	HP:0000648	Optic atrophy	HP:0040281	ORPHA:910
7508	XPC	HP:0000613	Photophobia	HP:0040283	ORPHA:910
7508	XPC	HP:0000613	Photophobia	-	OMIM:278720
7508	XPC	HP:0001945	Fever	HP:0040281	ORPHA:910
7508	XPC	HP:0000621	Entropion	-	OMIM:278720
7508	XPC	HP:0000621	Entropion	HP:0040283	ORPHA:910
7508	XPC	HP:0000656	Ectropion	-	OMIM:278720
7508	XPC	HP:0000656	Ectropion	HP:0040283	ORPHA:910
7508	XPC	HP:0004322	Short stature	HP:0040283	ORPHA:910
7508	XPC	HP:0004334	Dermal atrophy	2/4	OMIM:278720
7508	XPC	HP:0004334	Dermal atrophy	HP:0040282	ORPHA:910
7508	XPC	HP:0003079	Defective DNA repair after ultraviolet radiation damage	-	OMIM:278720
7508	XPC	HP:0100012	Neoplasm of the eye	HP:0040283	ORPHA:910
7508	XPC	HP:0012733	Macule	HP:0040282	ORPHA:910
7508	XPC	HP:0012740	Papilloma	HP:0040282	ORPHA:910
7508	XPC	HP:0011463	Childhood onset	4/4	OMIM:278720
7508	XPC	HP:0004493	Craniofacial hyperostosis	HP:0040283	ORPHA:910
7508	XPC	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:910
7508	XPC	HP:0000992	Cutaneous photosensitivity	-	OMIM:278720
7508	XPC	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:910
7508	XPC	HP:0000958	Dry skin	HP:0040281	ORPHA:910
7508	XPC	HP:0000963	Thin skin	HP:0040281	ORPHA:910
7508	XPC	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:910
7508	XPC	HP:0001596	Alopecia	HP:0040283	ORPHA:910
7508	XPC	HP:0007759	Opacification of the corneal stroma	HP:0040283	ORPHA:910
7508	XPC	HP:0002829	Arthralgia	HP:0040281	ORPHA:910
7508	XPC	HP:0000252	Microcephaly	HP:0040283	ORPHA:910
7508	XPC	HP:0002861	Melanoma	HP:0040282	ORPHA:910
7508	XPC	HP:0001508	Failure to thrive	HP:0040281	ORPHA:910
7508	XPC	HP:0012378	Fatigue	HP:0040281	ORPHA:910
7508	XPC	HP:0000365	Hearing impairment	HP:0040283	ORPHA:910
7508	XPC	HP:0000498	Blepharitis	HP:0040283	ORPHA:910
7508	XPC	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:910
7508	XPC	HP:0000486	Strabismus	HP:0040282	ORPHA:910
7508	XPC	HP:0000491	Keratitis	-	OMIM:278720
7508	XPC	HP:0000491	Keratitis	HP:0040282	ORPHA:910
7508	XPC	HP:0006739	Squamous cell carcinoma of the skin	3/4	OMIM:278720
7508	XPC	HP:0000518	Cataract	HP:0040282	ORPHA:910
7508	XPC	HP:0000524	Conjunctival telangiectasia	HP:0040281	ORPHA:910
7508	XPC	HP:0000509	Conjunctivitis	-	OMIM:278720
7512	XPNPEP2	HP:0012027	Laryngeal edema	HP:0040283	ORPHA:100057
7512	XPNPEP2	HP:0002781	Upper airway obstruction	HP:0040283	ORPHA:100057
7512	XPNPEP2	HP:0031244	Swollen lip	HP:0040282	ORPHA:100057
7512	XPNPEP2	HP:0040315	Tongue edema	HP:0040282	ORPHA:100057
7512	XPNPEP2	HP:0100540	Palpebral edema	HP:0040282	ORPHA:100057
7512	XPNPEP2	HP:0002098	Respiratory distress	HP:0040282	ORPHA:100057
7512	XPNPEP2	HP:0011855	Pharyngeal edema	HP:0040283	ORPHA:100057
7512	XPNPEP2	HP:0025018	Abnormal capillary physiology	HP:0040281	ORPHA:100057
7512	XPNPEP2	HP:0001025	Urticaria	-	ORPHA:100057
7512	XPNPEP2	HP:0100665	Angioedema	HP:0040280	ORPHA:100057
7512	XPNPEP2	HP:0100665	Angioedema	-	OMIM:300909
7512	XPNPEP2	HP:0010783	Erythema	HP:0040283	ORPHA:100057
7512	XPNPEP2	HP:0000989	Pruritus	-	ORPHA:100057
7512	XPNPEP2	HP:0000282	Facial edema	HP:0040281	ORPHA:100057
7515	XRCC1	HP:0001152	Saccadic smooth pursuit	1/1	OMIM:617633
7515	XRCC1	HP:0002460	Distal muscle weakness	1/1	OMIM:617633
7515	XRCC1	HP:0002403	Positive Romberg sign	1/1	OMIM:617633
7515	XRCC1	HP:0001272	Cerebellar atrophy	1/1	OMIM:617633
7515	XRCC1	HP:0001284	Areflexia	1/1	OMIM:617633
7515	XRCC1	HP:0001260	Dysarthria	1/1	OMIM:617633
7515	XRCC1	HP:0007338	Hypermetric saccades	1/1	OMIM:617633
7515	XRCC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617633
7515	XRCC1	HP:0001310	Dysmetria	1/1	OMIM:617633
7515	XRCC1	HP:0002015	Dysphagia	1/1	OMIM:617633
7515	XRCC1	HP:0002066	Gait ataxia	1/1	OMIM:617633
7515	XRCC1	HP:0002075	Dysdiadochokinesis	1/1	OMIM:617633
7515	XRCC1	HP:0002070	Limb ataxia	1/1	OMIM:617633
7515	XRCC1	HP:0003676	Progressive	-	OMIM:617633
7515	XRCC1	HP:0002317	Unsteady gait	1/1	OMIM:617633
7515	XRCC1	HP:0007141	Sensorimotor neuropathy	1/1	OMIM:617633
7515	XRCC1	HP:0006858	Impaired distal proprioception	1/1	OMIM:617633
7515	XRCC1	HP:0006886	Impaired distal vibration sensation	1/1	OMIM:617633
7515	XRCC1	HP:0000657	Oculomotor apraxia	1/1	OMIM:617633
7515	XRCC1	HP:0000666	Horizontal nystagmus	1/1	OMIM:617633
7515	XRCC1	HP:0025710	Late young adult onset	1/1	OMIM:617633
7516	XRCC2	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
7516	XRCC2	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
7516	XRCC2	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
7516	XRCC2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
7516	XRCC2	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
7516	XRCC2	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
7516	XRCC2	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
7516	XRCC2	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
7516	XRCC2	HP:0008734	Decreased testicular size	2/2	OMIM:619145
7516	XRCC2	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
7516	XRCC2	HP:0031038	Spermatogenesis maturation arrest	2/2	OMIM:619145
7516	XRCC2	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
7516	XRCC2	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
7516	XRCC2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000086	Ectopic kidney	1/1	OMIM:617247
7516	XRCC2	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
7516	XRCC2	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
7516	XRCC2	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
7516	XRCC2	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000027	Azoospermia	3/3	OMIM:619145
7516	XRCC2	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
7516	XRCC2	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
7516	XRCC2	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619146
7516	XRCC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619145
7516	XRCC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617247
7516	XRCC2	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
7516	XRCC2	HP:0003974	Absent radius	1/1	OMIM:617247
7516	XRCC2	HP:0031100	Decreased circulating inhibin B concentration	1/1	OMIM:619146
7516	XRCC2	HP:0031103	Decreased circulating antimullerian hormone circulation	1/1	OMIM:619146
7516	XRCC2	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
7516	XRCC2	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
7516	XRCC2	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
7516	XRCC2	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
7516	XRCC2	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
7516	XRCC2	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
7516	XRCC2	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
7516	XRCC2	HP:0010469	Absent testis	HP:0040283	ORPHA:84
7516	XRCC2	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
7516	XRCC2	HP:0008232	Elevated circulating follicle stimulating hormone level	1/1	OMIM:619146
7516	XRCC2	HP:0008209	Premature ovarian insufficiency	1/1	OMIM:619146
7516	XRCC2	HP:0008214	Decreased serum estradiol	1/1	OMIM:619146
7516	XRCC2	HP:0011835	Absent scaphoid	1/1	OMIM:617247
7516	XRCC2	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
7516	XRCC2	HP:0003577	Congenital onset	1/1	OMIM:617247
7516	XRCC2	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
7516	XRCC2	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
7516	XRCC2	HP:0011969	Elevated circulating luteinizing hormone level	1/1	OMIM:619146
7516	XRCC2	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
7516	XRCC2	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
7516	XRCC2	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
7516	XRCC2	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
7516	XRCC2	HP:0009777	Absent thumb	1/1	OMIM:617247
7516	XRCC2	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
7516	XRCC2	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
7516	XRCC2	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001903	Anemia	HP:0040281	ORPHA:84
7516	XRCC2	HP:0010035	Aplasia of the 1st metacarpal	1/1	OMIM:617247
7516	XRCC2	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
7516	XRCC2	HP:0004322	Short stature	HP:0040281	ORPHA:84
7516	XRCC2	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
7516	XRCC2	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
7516	XRCC2	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
7516	XRCC2	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
7516	XRCC2	HP:0012799	Unilateral facial palsy	1/1	OMIM:617247
7516	XRCC2	HP:0011462	Young adult onset	1/1	OMIM:619146
7516	XRCC2	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
7516	XRCC2	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
7516	XRCC2	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
7516	XRCC2	HP:0040012	Chromosome breakage	1/1	OMIM:617247
7516	XRCC2	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
7516	XRCC2	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
7516	XRCC2	HP:0003251	Male infertility	1/1	OMIM:619145
7516	XRCC2	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
7516	XRCC2	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
7516	XRCC2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
7516	XRCC2	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
7516	XRCC2	HP:0000252	Microcephaly	1/1	OMIM:617247
7516	XRCC2	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
7516	XRCC2	HP:0000218	High palate	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
7516	XRCC2	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001510	Growth delay	1/1	OMIM:617247
7516	XRCC2	HP:0001510	Growth delay	HP:0040283	ORPHA:84
7516	XRCC2	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
7516	XRCC2	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
7516	XRCC2	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
7516	XRCC2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
7516	XRCC2	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001643	Patent ductus arteriosus	1/1	OMIM:617247
7516	XRCC2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
7516	XRCC2	HP:0002984	Hypoplasia of the radius	1/1	OMIM:617247
7516	XRCC2	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
7516	XRCC2	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000486	Strabismus	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001763	Pes planus	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000518	Cataract	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000520	Proptosis	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001824	Weight loss	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000508	Ptosis	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
7516	XRCC2	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
7516	XRCC2	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
7516	XRCC2	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
7516	XRCC2	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
7517	XRCC3	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
7517	XRCC3	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
7517	XRCC3	HP:0003002	Breast carcinoma	-	OMIM:114480
7518	XRCC4	HP:0002488	Acute leukemia	HP:0040282	ORPHA:99812
7518	XRCC4	HP:0009879	Simplified gyral pattern	-	OMIM:616541
7518	XRCC4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7518	XRCC4	HP:0001293	Cranial nerve compression	-	OMIM:131300
7518	XRCC4	HP:0001288	Gait disturbance	2/2	OMIM:616541
7518	XRCC4	HP:0001252	Hypotonia	2/7	OMIM:615777
7518	XRCC4	HP:0001251	Ataxia	2/2	OMIM:616541
7518	XRCC4	HP:0001249	Intellectual disability	HP:0040282	ORPHA:99812
7518	XRCC4	HP:0001249	Intellectual disability	5/7	OMIM:615777
7518	XRCC4	HP:0001260	Dysarthria	2/2	OMIM:616541
7518	XRCC4	HP:0001263	Global developmental delay	HP:0040281	ORPHA:99812
7518	XRCC4	HP:0001263	Global developmental delay	-	OMIM:616541
7518	XRCC4	HP:0001263	Global developmental delay	-	OMIM:615777
7518	XRCC4	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:99812
7518	XRCC4	HP:0002515	Waddling gait	54/102	OMIM:131300
7518	XRCC4	HP:0000089	Renal hypoplasia	1/5	OMIM:616541
7518	XRCC4	HP:0000086	Ectopic kidney	1/5	OMIM:616541
7518	XRCC4	HP:0001397	Hepatic steatosis	HP:0040281	ORPHA:436182
7518	XRCC4	HP:0000054	Micropenis	-	OMIM:616541
7518	XRCC4	HP:0001382	Joint hypermobility	-	OMIM:615777
7518	XRCC4	HP:0000023	Inguinal hernia	-	OMIM:616541
7518	XRCC4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7518	XRCC4	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:99812
7518	XRCC4	HP:0000028	Cryptorchidism	12/12	OMIM:616541
7518	XRCC4	HP:0008890	Severe short-limb dwarfism	HP:0040281	ORPHA:436182
7518	XRCC4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7518	XRCC4	HP:0008873	Disproportionate short-limb short stature	2/2	OMIM:616541
7518	XRCC4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7518	XRCC4	HP:0001324	Muscle weakness	40/96	OMIM:131300
7518	XRCC4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7518	XRCC4	HP:0000007	Autosomal recessive inheritance	-	OMIM:616541
7518	XRCC4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7518	XRCC4	HP:0002665	Lymphoma	HP:0040282	ORPHA:99812
7518	XRCC4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7518	XRCC4	HP:0001310	Dysmetria	-	OMIM:616541
7518	XRCC4	HP:0002650	Scoliosis	12/14	OMIM:131300
7518	XRCC4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7518	XRCC4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7518	XRCC4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7518	XRCC4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7518	XRCC4	HP:0000175	Cleft palate	2/7	OMIM:615777
7518	XRCC4	HP:0000122	Unilateral renal agenesis	1/5	OMIM:616541
7518	XRCC4	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:99812
7518	XRCC4	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:99812
7518	XRCC4	HP:0002721	Immunodeficiency	-	OMIM:616541
7518	XRCC4	HP:0002024	Malabsorption	HP:0040283	ORPHA:99812
7518	XRCC4	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:99812
7518	XRCC4	HP:0100543	Cognitive impairment	-	OMIM:616541
7518	XRCC4	HP:0003390	Sensory axonal neuropathy	2/2	OMIM:616541
7518	XRCC4	HP:0002075	Dysdiadochokinesis	-	OMIM:616541
7518	XRCC4	HP:0003388	Easy fatigability	36/76	OMIM:131300
7518	XRCC4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7518	XRCC4	HP:0100585	Telangiectasia of the skin	HP:0040283	ORPHA:99812
7518	XRCC4	HP:0008193	Primary gonadal insufficiency	HP:0040281	ORPHA:436182
7518	XRCC4	HP:0002155	Hypertriglyceridemia	HP:0040281	ORPHA:436182
7518	XRCC4	HP:0002119	Ventriculomegaly	-	OMIM:616541
7518	XRCC4	HP:0002136	Broad-based gait	-	OMIM:616541
7518	XRCC4	HP:0002186	Apraxia	-	OMIM:616541
7518	XRCC4	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:99812
7518	XRCC4	HP:0010620	Malar prominence	HP:0040281	ORPHA:436182
7518	XRCC4	HP:0003510	Severe short stature	7/7	OMIM:615777
7518	XRCC4	HP:0002315	Headache	-	OMIM:131300
7518	XRCC4	HP:0004976	Knee dislocation	6/7	OMIM:615777
7518	XRCC4	HP:0009826	Limb undergrowth	-	OMIM:616541
7518	XRCC4	HP:0009803	Short phalanx of finger	-	OMIM:615777
7518	XRCC4	HP:0010783	Erythema	HP:0040282	ORPHA:99812
7518	XRCC4	HP:0009763	Limb pain	63/92	OMIM:131300
7518	XRCC4	HP:0003621	Juvenile onset	-	OMIM:131300
7518	XRCC4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7518	XRCC4	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:99812
7518	XRCC4	HP:0006855	Cerebellar vermis atrophy	-	OMIM:616541
7518	XRCC4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7518	XRCC4	HP:0005561	Abnormal bone marrow cell morphology	HP:0040282	ORPHA:99812
7518	XRCC4	HP:0000639	Nystagmus	2/2	OMIM:616541
7518	XRCC4	HP:6001056	Out-toeing	-	OMIM:131300
7518	XRCC4	HP:0000651	Diplopia	-	OMIM:131300
7518	XRCC4	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:99812
7518	XRCC4	HP:0001956	Truncal obesity	HP:0040283	OMIM:616541
7518	XRCC4	HP:0001956	Truncal obesity	2/7	OMIM:615777
7518	XRCC4	HP:0000601	Hypotelorism	2/2	OMIM:616541
7518	XRCC4	HP:0001903	Anemia	HP:0040283	OMIM:131300
7518	XRCC4	HP:0001903	Anemia	-	OMIM:616541
7518	XRCC4	HP:0010049	Short metacarpal	-	OMIM:615777
7518	XRCC4	HP:0000678	Dental crowding	-	OMIM:615777
7518	XRCC4	HP:0000692	Tooth malposition	-	OMIM:616541
7518	XRCC4	HP:0000670	Carious teeth	-	OMIM:131300
7518	XRCC4	HP:0011304	Broad thumb	2/7	OMIM:615777
7518	XRCC4	HP:0000668	Hypodontia	-	OMIM:615777
7518	XRCC4	HP:0000664	Synophrys	-	OMIM:615777
7518	XRCC4	HP:0004322	Short stature	5/5	OMIM:616541
7518	XRCC4	HP:0004396	Poor appetite	-	OMIM:131300
7518	XRCC4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7518	XRCC4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7518	XRCC4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7518	XRCC4	HP:0003026	Short long bone	7/7	OMIM:615777
7518	XRCC4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7518	XRCC4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7518	XRCC4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7518	XRCC4	HP:0000763	Sensory neuropathy	-	OMIM:616541
7518	XRCC4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7518	XRCC4	HP:0000750	Delayed speech and language development	-	OMIM:616541
7518	XRCC4	HP:0000750	Delayed speech and language development	-	OMIM:615777
7518	XRCC4	HP:0011461	Fetal onset	7/7	OMIM:615777
7518	XRCC4	HP:0000774	Narrow chest	2/7	OMIM:615777
7518	XRCC4	HP:0003119	Abnormal circulating lipid concentration	-	OMIM:616541
7518	XRCC4	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:99812
7518	XRCC4	HP:0004430	Severe combined immunodeficiency	HP:0040282	ORPHA:99812
7518	XRCC4	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:99812
7518	XRCC4	HP:0000926	Platyspondyly	1/7	OMIM:615777
7518	XRCC4	HP:0003189	Long nose	-	OMIM:616541
7518	XRCC4	HP:0003180	Flat acetabular roof	-	OMIM:615777
7518	XRCC4	HP:0004482	Relative macrocephaly	-	OMIM:615777
7518	XRCC4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7518	XRCC4	HP:0000855	Insulin resistance	-	OMIM:616541
7518	XRCC4	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040281	ORPHA:436182
7518	XRCC4	HP:0000819	Diabetes mellitus	-	OMIM:616541
7518	XRCC4	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:99812
7518	XRCC4	HP:0000821	Hypothyroidism	-	OMIM:616541
7518	XRCC4	HP:0000823	Delayed puberty	-	OMIM:131300
7518	XRCC4	HP:0000894	Short clavicles	-	OMIM:615777
7518	XRCC4	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:99812
7518	XRCC4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7518	XRCC4	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:99812
7518	XRCC4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7518	XRCC4	HP:0000956	Acanthosis nigricans	-	OMIM:616541
7518	XRCC4	HP:0008070	Sparse hair	-	OMIM:616541
7518	XRCC4	HP:0000286	Epicanthus	HP:0040282	ORPHA:99812
7518	XRCC4	HP:0000286	Epicanthus	1/7	OMIM:615777
7518	XRCC4	HP:0000280	Coarse facial features	2/7	OMIM:615777
7518	XRCC4	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:99812
7518	XRCC4	HP:0000276	Long face	-	OMIM:616541
7518	XRCC4	HP:0007772	Impaired smooth pursuit	2/2	OMIM:616541
7518	XRCC4	HP:0002827	Hip dislocation	3/7	OMIM:615777
7518	XRCC4	HP:0030084	Clinodactyly	HP:0040283	OMIM:616541
7518	XRCC4	HP:0000252	Microcephaly	HP:0040281	ORPHA:99812
7518	XRCC4	HP:0000252	Microcephaly	5/5	OMIM:616541
7518	XRCC4	HP:0000252	Microcephaly	-	OMIM:615777
7518	XRCC4	HP:0000248	Brachycephaly	HP:0040282	ORPHA:99812
7518	XRCC4	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:99812
7518	XRCC4	HP:0002857	Genu valgum	-	OMIM:131300
7518	XRCC4	HP:0001533	Slender build	-	OMIM:131300
7518	XRCC4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7518	XRCC4	HP:0001511	Intrauterine growth retardation	-	OMIM:616541
7518	XRCC4	HP:0001510	Growth delay	HP:0040281	ORPHA:99812
7518	XRCC4	HP:0007807	Optic nerve compression	-	OMIM:131300
7518	XRCC4	HP:0012368	Flat face	7/7	OMIM:615777
7518	XRCC4	HP:0007875	Congenital blindness	HP:0040283	ORPHA:436182
7518	XRCC4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7518	XRCC4	HP:0000365	Hearing impairment	10/67	OMIM:131300
7518	XRCC4	HP:0000340	Sloping forehead	-	OMIM:616541
7518	XRCC4	HP:0000343	Long philtrum	1/7	OMIM:615777
7518	XRCC4	HP:0011001	Increased bone mineral density	-	OMIM:131300
7518	XRCC4	HP:0000348	High forehead	-	OMIM:616541
7518	XRCC4	HP:0000347	Micrognathia	HP:0040282	ORPHA:99812
7518	XRCC4	HP:0000347	Micrognathia	HP:0040281	ORPHA:436182
7518	XRCC4	HP:0000320	Bird-like facies	HP:0040281	ORPHA:99812
7518	XRCC4	HP:0000311	Round face	2/7	OMIM:615777
7518	XRCC4	HP:0001644	Dilated cardiomyopathy	1/2	OMIM:616541
7518	XRCC4	HP:0000331	Short chin	-	OMIM:616541
7518	XRCC4	HP:0000325	Triangular face	-	OMIM:616541
7518	XRCC4	HP:0001620	Abnormally high-pitched voice	-	OMIM:616541
7518	XRCC4	HP:0002970	Genu varum	-	OMIM:615777
7518	XRCC4	HP:0000303	Mandibular prognathia	-	OMIM:131300
7518	XRCC4	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:616541
7518	XRCC4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7518	XRCC4	HP:0000490	Deeply set eye	-	OMIM:616541
7518	XRCC4	HP:0000455	Broad nasal tip	-	OMIM:616541
7518	XRCC4	HP:0000470	Short neck	1/7	OMIM:615777
7518	XRCC4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7518	XRCC4	HP:0001763	Pes planus	1/7	OMIM:615777
7518	XRCC4	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:99812
7518	XRCC4	HP:0000444	Convex nasal ridge	-	OMIM:616541
7518	XRCC4	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:99812
7518	XRCC4	HP:0001761	Pes cavus	2/2	OMIM:616541
7518	XRCC4	HP:0000426	Prominent nasal bridge	-	OMIM:616541
7518	XRCC4	HP:0000518	Cataract	HP:0040283	OMIM:616541
7518	XRCC4	HP:0001840	Metatarsus adductus	-	OMIM:615777
7518	XRCC4	HP:0000520	Proptosis	2/4	OMIM:131300
7518	XRCC4	HP:0000520	Proptosis	7/7	OMIM:615777
7518	XRCC4	HP:0000506	Telecanthus	HP:0040282	ORPHA:99812
7518	XRCC4	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:99812
7518	XRCC4	HP:0000592	Blue sclerae	2/7	OMIM:615777
7518	XRCC4	HP:0001888	Decreased total lymphocyte count	-	OMIM:616541
7518	XRCC4	HP:0000541	Retinal detachment	HP:0040283	ORPHA:436182
7518	XRCC4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7518	XRCC4	HP:0012514	Lower limb pain	4/4	OMIM:131300
7518	XRCC4	HP:0001876	Pancytopenia	HP:0040282	ORPHA:99812
7528	YY1	HP:0002494	Abnormal rapid eye movement sleep	HP:0040283	ORPHA:97279
7528	YY1	HP:0020206	Simple ear	7/10	OMIM:617557
7528	YY1	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:506358
7528	YY1	HP:0100807	Long fingers	1/10	OMIM:617557
7528	YY1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:506358
7528	YY1	HP:0001270	Motor delay	10/10	OMIM:617557
7528	YY1	HP:0001254	Lethargy	HP:0040283	ORPHA:97279
7528	YY1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:506358
7528	YY1	HP:0001250	Seizure	HP:0040281	ORPHA:97279
7528	YY1	HP:0001252	Hypotonia	HP:0040282	ORPHA:506358
7528	YY1	HP:0001252	Hypotonia	3/10	OMIM:617557
7528	YY1	HP:0001249	Intellectual disability	9/9	OMIM:617557
7528	YY1	HP:0002591	Polyphagia	HP:0040282	ORPHA:97279
7528	YY1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:506358
7528	YY1	HP:0001263	Global developmental delay	-	OMIM:617557
7528	YY1	HP:0001259	Coma	HP:0040283	ORPHA:97279
7528	YY1	HP:0002539	Cortical dysplasia	1/10	OMIM:617557
7528	YY1	HP:0002515	Waddling gait	HP:0040283	ORPHA:506358
7528	YY1	HP:0002515	Waddling gait	1/9	OMIM:617557
7528	YY1	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:506358
7528	YY1	HP:0006094	Finger joint hypermobility	HP:0040283	ORPHA:506358
7528	YY1	HP:0006094	Finger joint hypermobility	2/10	OMIM:617557
7528	YY1	HP:0012051	Reactive hypoglycemia	HP:0040282	ORPHA:97279
7528	YY1	HP:0000074	Ureteropelvic junction obstruction	HP:0040283	ORPHA:506358
7528	YY1	HP:0000074	Ureteropelvic junction obstruction	1/8	OMIM:617557
7528	YY1	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:506358
7528	YY1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:506358
7528	YY1	HP:0000028	Cryptorchidism	1/5	OMIM:617557
7528	YY1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:506358
7528	YY1	HP:0001332	Dystonia	HP:0040283	ORPHA:506358
7528	YY1	HP:0001332	Dystonia	2/9	OMIM:617557
7528	YY1	HP:0001344	Absent speech	HP:0040283	ORPHA:506358
7528	YY1	HP:0001337	Tremor	HP:0040283	ORPHA:506358
7528	YY1	HP:0001337	Tremor	1/9	OMIM:617557
7528	YY1	HP:0001337	Tremor	HP:0040281	ORPHA:97279
7528	YY1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617557
7528	YY1	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:506358
7528	YY1	HP:0000179	Thick lower lip vermilion	8/10	OMIM:617557
7528	YY1	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:506358
7528	YY1	HP:0000164	Abnormality of the dentition	2/10	OMIM:617557
7528	YY1	HP:0007678	Lacrimal duct stenosis	HP:0040283	ORPHA:506358
7528	YY1	HP:0008944	Distal lower limb amyotrophy	HP:0040283	ORPHA:506358
7528	YY1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:506358
7528	YY1	HP:0000126	Hydronephrosis	2/8	OMIM:617557
7528	YY1	HP:0002719	Recurrent infections	HP:0040283	ORPHA:506358
7528	YY1	HP:0002719	Recurrent infections	1/10	OMIM:617557
7528	YY1	HP:0002032	Esophageal atresia	HP:0040283	ORPHA:506358
7528	YY1	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:97279
7528	YY1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:506358
7528	YY1	HP:0002044	Zollinger-Ellison syndrome	HP:0040282	ORPHA:97279
7528	YY1	HP:0010499	Patellar subluxation	HP:0040283	ORPHA:506358
7528	YY1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:506358
7528	YY1	HP:0002188	Delayed CNS myelination	1/10	OMIM:617557
7528	YY1	HP:0002171	Gliosis	HP:0040283	ORPHA:506358
7528	YY1	HP:0010534	Transient global amnesia	HP:0040281	ORPHA:97279
7528	YY1	HP:0008200	Primary hyperparathyroidism	HP:0040282	ORPHA:97279
7528	YY1	HP:0003401	Paresthesia	HP:0040283	ORPHA:97279
7528	YY1	HP:0008283	Fasting hyperinsulinemia	HP:0040281	ORPHA:97279
7528	YY1	HP:0003577	Congenital onset	10/10	OMIM:617557
7528	YY1	HP:0002236	Frontal upsweep of hair	HP:0040283	ORPHA:506358
7528	YY1	HP:0002236	Frontal upsweep of hair	1/7	OMIM:617557
7528	YY1	HP:0100785	Insomnia	HP:0040283	ORPHA:97279
7528	YY1	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:506358
7528	YY1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:506358
7528	YY1	HP:0007018	Attention deficit hyperactivity disorder	1/10	OMIM:617557
7528	YY1	HP:0011968	Feeding difficulties	9/10	OMIM:617557
7528	YY1	HP:0002360	Sleep abnormality	2/9	OMIM:617557
7528	YY1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:506358
7528	YY1	HP:0010832	Abnormality of pain sensation	HP:0040283	ORPHA:97279
7528	YY1	HP:0100634	Neuroendocrine neoplasm	HP:0040283	ORPHA:97279
7528	YY1	HP:0100631	Neoplasm of the adrenal gland	HP:0040283	ORPHA:97279
7528	YY1	HP:0007159	Fluctuations in consciousness	HP:0040282	ORPHA:97279
7528	YY1	HP:0031834	Aortopulmonary collateral arteries	1/8	OMIM:617557
7528	YY1	HP:0001962	Palpitations	HP:0040281	ORPHA:97279
7528	YY1	HP:0001958	Nonketotic hypoglycemia	HP:0040281	ORPHA:97279
7528	YY1	HP:0000629	Periorbital fullness	HP:0040282	ORPHA:506358
7528	YY1	HP:0000629	Periorbital fullness	6/10	OMIM:617557
7528	YY1	HP:0011344	Severe global developmental delay	HP:0040283	ORPHA:506358
7528	YY1	HP:0011339	Abnormality of upper lip vermillion	HP:0040282	ORPHA:506358
7528	YY1	HP:0011311	Sydney crease	HP:0040283	ORPHA:506358
7528	YY1	HP:0001988	Recurrent hypoglycemia	HP:0040281	ORPHA:97279
7528	YY1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:506358
7528	YY1	HP:0004324	Increased body weight	HP:0040282	ORPHA:97279
7528	YY1	HP:0006956	Lateral ventricle dilatation	1/10	OMIM:617557
7528	YY1	HP:0004372	Reduced consciousness	HP:0040282	ORPHA:97279
7528	YY1	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:506358
7528	YY1	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:506358
7528	YY1	HP:0005684	Distal arthrogryposis	HP:0040283	ORPHA:506358
7528	YY1	HP:0005684	Distal arthrogryposis	1/7	OMIM:617557
7528	YY1	HP:0000739	Anxiety	HP:0040283	ORPHA:506358
7528	YY1	HP:0000739	Anxiety	1/10	OMIM:617557
7528	YY1	HP:0000739	Anxiety	HP:0040283	ORPHA:97279
7528	YY1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:506358
7528	YY1	HP:0000750	Delayed speech and language development	10/10	OMIM:617557
7528	YY1	HP:0000717	Autism	HP:0040283	ORPHA:506358
7528	YY1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:506358
7528	YY1	HP:0000729	Autistic behavior	2/10	OMIM:617557
7528	YY1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:506358
7528	YY1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:97279
7528	YY1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040282	ORPHA:506358
7528	YY1	HP:0011446	Abnormality of mental function	HP:0040283	ORPHA:97279
7528	YY1	HP:0003187	Breast hypoplasia	HP:0040283	ORPHA:506358
7528	YY1	HP:0000842	Hyperinsulinemia	HP:0040281	ORPHA:97279
7528	YY1	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040281	ORPHA:97279
7528	YY1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:506358
7528	YY1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:506358
7528	YY1	HP:0045075	Sparse eyebrow	HP:0040283	ORPHA:506358
7528	YY1	HP:0045075	Sparse eyebrow	1/7	OMIM:617557
7528	YY1	HP:0010316	Ebstein anomaly of the tricuspid valve	HP:0040283	ORPHA:506358
7528	YY1	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:97279
7528	YY1	HP:0000974	Hyperextensible skin	HP:0040283	ORPHA:506358
7528	YY1	HP:0000297	Facial hypotonia	HP:0040283	ORPHA:506358
7528	YY1	HP:0000297	Facial hypotonia	1/7	OMIM:617557
7528	YY1	HP:0000272	Malar flattening	HP:0040281	ORPHA:506358
7528	YY1	HP:0000272	Malar flattening	8/10	OMIM:617557
7528	YY1	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:506358
7528	YY1	HP:0000268	Dolichocephaly	1/7	OMIM:617557
7528	YY1	HP:0006476	Abnormality of the pancreatic islet cells	HP:0040281	ORPHA:97279
7528	YY1	HP:0000218	High palate	HP:0040283	ORPHA:506358
7528	YY1	HP:0000218	High palate	1/7	OMIM:617557
7528	YY1	HP:0000201	Pierre-Robin sequence	1/7	OMIM:617557
7528	YY1	HP:0001518	Small for gestational age	HP:0040283	ORPHA:506358
7528	YY1	HP:0030051	Tip-toe gait	1/9	OMIM:617557
7528	YY1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:506358
7528	YY1	HP:0001511	Intrauterine growth retardation	-	OMIM:617557
7528	YY1	HP:0012378	Fatigue	HP:0040283	ORPHA:97279
7528	YY1	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:97279
7528	YY1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:506358
7528	YY1	HP:0000358	Posteriorly rotated ears	6/10	OMIM:617557
7528	YY1	HP:0000369	Low-set ears	HP:0040283	ORPHA:506358
7528	YY1	HP:0000369	Low-set ears	1/10	OMIM:617557
7528	YY1	HP:0000337	Broad forehead	HP:0040281	ORPHA:506358
7528	YY1	HP:0000337	Broad forehead	10/10	OMIM:617557
7528	YY1	HP:0002999	Patellar dislocation	1/7	OMIM:617557
7528	YY1	HP:0000347	Micrognathia	HP:0040283	ORPHA:506358
7528	YY1	HP:0000347	Micrognathia	1/7	OMIM:617557
7528	YY1	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:506358
7528	YY1	HP:0000324	Facial asymmetry	7/10	OMIM:617557
7528	YY1	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:506358
7528	YY1	HP:0001655	Patent foramen ovale	1/8	OMIM:617557
7528	YY1	HP:0000307	Pointed chin	HP:0040282	ORPHA:506358
7528	YY1	HP:0000307	Pointed chin	4/10	OMIM:617557
7528	YY1	HP:0000483	Astigmatism	HP:0040283	ORPHA:506358
7528	YY1	HP:0000486	Strabismus	HP:0040282	ORPHA:506358
7528	YY1	HP:0000486	Strabismus	4/10	OMIM:617557
7528	YY1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:506358
7528	YY1	HP:0000494	Downslanted palpebral fissures	5/10	OMIM:617557
7528	YY1	HP:0012448	Delayed myelination	HP:0040283	ORPHA:506358
7528	YY1	HP:0000455	Broad nasal tip	5/10	OMIM:617557
7528	YY1	HP:0000414	Bulbous nose	HP:0040281	ORPHA:506358
7528	YY1	HP:0006767	Pituitary prolactin cell adenoma	HP:0040282	ORPHA:97279
7528	YY1	HP:0001852	Sandal gap	HP:0040283	ORPHA:506358
7528	YY1	HP:0001852	Sandal gap	1/7	OMIM:617557
7528	YY1	HP:0001822	Hallux valgus	HP:0040283	ORPHA:506358
7528	YY1	HP:0001822	Hallux valgus	1/7	OMIM:617557
7528	YY1	HP:0000506	Telecanthus	HP:0040283	ORPHA:506358
7528	YY1	HP:0000506	Telecanthus	1/7	OMIM:617557
7528	YY1	HP:0000508	Ptosis	HP:0040283	ORPHA:506358
7528	YY1	HP:0000508	Ptosis	1/7	OMIM:617557
7528	YY1	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:97279
7528	YY1	HP:0011225	Epiblepharon	1/7	OMIM:617557
7528	YY1	HP:0000540	Hypermetropia	HP:0040283	ORPHA:506358
7531	YWHAE	HP:0001250	Seizure	HP:0040281	ORPHA:531
7531	YWHAE	HP:0001252	Hypotonia	HP:0040281	ORPHA:217385
7531	YWHAE	HP:0001251	Ataxia	HP:0040283	ORPHA:531
7531	YWHAE	HP:0001263	Global developmental delay	HP:0040281	ORPHA:217385
7531	YWHAE	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:217385
7531	YWHAE	HP:0000098	Tall stature	HP:0040283	ORPHA:217385
7531	YWHAE	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:217385
7531	YWHAE	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:217385
7531	YWHAE	HP:0001339	Lissencephaly	HP:0040281	ORPHA:531
7531	YWHAE	HP:0000160	Narrow mouth	HP:0040281	ORPHA:217385
7531	YWHAE	HP:0000177	Abnormal upper lip morphology	HP:0040281	ORPHA:531
7531	YWHAE	HP:0000112	Nephropathy	HP:0040283	ORPHA:531
7531	YWHAE	HP:0002007	Frontal bossing	HP:0040281	ORPHA:217385
7531	YWHAE	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:217385
7531	YWHAE	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:531
7531	YWHAE	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:531
7531	YWHAE	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:217385
7531	YWHAE	HP:0002353	EEG abnormality	HP:0040281	ORPHA:531
7531	YWHAE	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:217385
7531	YWHAE	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:531
7531	YWHAE	HP:0003196	Short nose	HP:0040281	ORPHA:217385
7531	YWHAE	HP:0003196	Short nose	HP:0040281	ORPHA:531
7531	YWHAE	HP:0000960	Sacral dimple	HP:0040283	ORPHA:531
7531	YWHAE	HP:0000286	Epicanthus	HP:0040281	ORPHA:531
7531	YWHAE	HP:0000218	High palate	HP:0040283	ORPHA:217385
7531	YWHAE	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:531
7531	YWHAE	HP:0001539	Omphalocele	HP:0040283	ORPHA:531
7531	YWHAE	HP:0001510	Growth delay	HP:0040281	ORPHA:531
7531	YWHAE	HP:0000369	Low-set ears	HP:0040282	ORPHA:217385
7531	YWHAE	HP:0000348	High forehead	HP:0040281	ORPHA:217385
7531	YWHAE	HP:0000348	High forehead	HP:0040281	ORPHA:531
7531	YWHAE	HP:0000316	Hypertelorism	HP:0040281	ORPHA:217385
7531	YWHAE	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:531
7531	YWHAE	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:217385
7531	YWHAE	HP:0000463	Anteverted nares	HP:0040281	ORPHA:531
7531	YWHAE	HP:0000470	Short neck	HP:0040282	ORPHA:217385
7531	YWHAE	HP:0000445	Wide nose	HP:0040281	ORPHA:217385
7532	YWHAG	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
7532	YWHAG	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
7532	YWHAG	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0001250	Seizure	HP:0040282	ORPHA:442835
7532	YWHAG	HP:0001250	Seizure	4/4	OMIM:617665
7532	YWHAG	HP:0001252	Hypotonia	1/4	OMIM:617665
7532	YWHAG	HP:0001251	Ataxia	1/4	OMIM:617665
7532	YWHAG	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
7532	YWHAG	HP:0001249	Intellectual disability	4/4	OMIM:617665
7532	YWHAG	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
7532	YWHAG	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
7532	YWHAG	HP:0001263	Global developmental delay	4/4	OMIM:617665
7532	YWHAG	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0008770	Obsessive-compulsive trait	1/4	OMIM:617665
7532	YWHAG	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
7532	YWHAG	HP:0001382	Joint hypermobility	1/4	OMIM:617665
7532	YWHAG	HP:0001337	Tremor	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0000006	Autosomal dominant inheritance	-	OMIM:617665
7532	YWHAG	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0002650	Scoliosis	2/4	OMIM:617665
7532	YWHAG	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0002121	Generalized non-motor (absence) seizure	1/4	OMIM:617665
7532	YWHAG	HP:0002136	Broad-based gait	-	OMIM:617665
7532	YWHAG	HP:0002133	Status epilepticus	1/4	OMIM:617665
7532	YWHAG	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
7532	YWHAG	HP:0003593	Infantile onset	4/4	OMIM:617665
7532	YWHAG	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0007018	Attention deficit hyperactivity disorder	1/4	OMIM:617665
7532	YWHAG	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0002392	EEG with polyspike wave complexes	1/2	OMIM:617665
7532	YWHAG	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
7532	YWHAG	HP:0002370	Poor coordination	1/4	OMIM:617665
7532	YWHAG	HP:0002345	Action tremor	1/4	OMIM:617665
7532	YWHAG	HP:0002353	EEG abnormality	2/2	OMIM:617665
7532	YWHAG	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
7532	YWHAG	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
7532	YWHAG	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0004322	Short stature	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0000739	Anxiety	-	OMIM:617665
7532	YWHAG	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
7532	YWHAG	HP:0000717	Autism	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
7532	YWHAG	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
7532	YWHAG	HP:0000348	High forehead	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0032794	Myoclonic seizure	2/4	OMIM:617665
7532	YWHAG	HP:0011153	Focal motor seizure	1/4	OMIM:617665
7532	YWHAG	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
7532	YWHAG	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
7532	YWHAG	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
7532	YWHAG	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
7535	ZAP70	HP:0001297	Stroke	HP:0040283	ORPHA:911
7535	ZAP70	HP:0100827	Increased total lymphocyte count	HP:0040283	ORPHA:911
7535	ZAP70	HP:0002583	Colitis	1/2	OMIM:617006
7535	ZAP70	HP:0002583	Colitis	HP:0040283	ORPHA:911
7535	ZAP70	HP:0010975	Abnormal B cell count	0/1	OMIM:269840
7535	ZAP70	HP:0000093	Proteinuria	2/2	OMIM:617006
7535	ZAP70	HP:0000007	Autosomal recessive inheritance	-	OMIM:617006
7535	ZAP70	HP:0000007	Autosomal recessive inheritance	-	OMIM:269840
7535	ZAP70	HP:0002665	Lymphoma	HP:0040284	ORPHA:911
7535	ZAP70	HP:0031266	Podocyte foot process effacement	1/1	OMIM:617006
7535	ZAP70	HP:0000100	Nephrotic syndrome	1/2	OMIM:617006
7535	ZAP70	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:911
7535	ZAP70	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:911
7535	ZAP70	HP:0002733	Abnormal lymph node morphology	HP:0040283	ORPHA:911
7535	ZAP70	HP:0002718	Recurrent bacterial infections	HP:0040281	ORPHA:911
7535	ZAP70	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:911
7535	ZAP70	HP:0002728	Chronic mucocutaneous candidiasis	HP:0040283	ORPHA:911
7535	ZAP70	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	1/1	OMIM:269840
7535	ZAP70	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	2/2	OMIM:617006
7535	ZAP70	HP:0002028	Chronic diarrhea	1/1	OMIM:269840
7535	ZAP70	HP:0002028	Chronic diarrhea	HP:0040282	ORPHA:911
7535	ZAP70	HP:0002090	Pneumonia	-	OMIM:269840
7535	ZAP70	HP:0002090	Pneumonia	HP:0040282	ORPHA:911
7535	ZAP70	HP:0004798	Recurrent infection of the gastrointestinal tract	HP:0040282	ORPHA:911
7535	ZAP70	HP:0033221	Increased CD4:CD8 ratio	2/2	OMIM:617006
7535	ZAP70	HP:0003593	Infantile onset	-	OMIM:617006
7535	ZAP70	HP:0003593	Infantile onset	2/2	OMIM:269840
7535	ZAP70	HP:0002240	Hepatomegaly	-	OMIM:269840
7535	ZAP70	HP:0002205	Recurrent respiratory infections	1/1	OMIM:269840
7535	ZAP70	HP:0200117	Recurrent upper and lower respiratory tract infections	HP:0040282	ORPHA:911
7535	ZAP70	HP:0020102	Pneumocystis jirovecii pneumonia	1/1	OMIM:269840
7535	ZAP70	HP:0005523	Lymphoproliferative disorder	HP:0040284	ORPHA:911
7535	ZAP70	HP:0009098	Chronic oral candidiasis	HP:0040282	ORPHA:911
7535	ZAP70	HP:0001973	Autoimmune thrombocytopenia	HP:0040284	ORPHA:911
7535	ZAP70	HP:0004429	Recurrent viral infections	HP:0040281	ORPHA:911
7535	ZAP70	HP:0003139	Panhypogammaglobulinemia	-	OMIM:269840
7535	ZAP70	HP:0010280	Stomatitis	HP:0040283	ORPHA:911
7535	ZAP70	HP:0000988	Skin rash	HP:0040283	ORPHA:911
7535	ZAP70	HP:0000964	Eczematoid dermatitis	-	OMIM:269840
7535	ZAP70	HP:0002840	Lymphadenitis	HP:0040283	ORPHA:911
7535	ZAP70	HP:0001508	Failure to thrive	-	OMIM:269840
7535	ZAP70	HP:0001508	Failure to thrive	HP:0040282	ORPHA:911
7535	ZAP70	HP:0031381	Decreased mitogen-induced T-cell proliferation	HP:0040281	ORPHA:911
7535	ZAP70	HP:0002960	Autoimmunity	-	OMIM:617006
7535	ZAP70	HP:0031540	Linear IgG deposits along the epidermal basement membrane zone	1/1	OMIM:617006
7535	ZAP70	HP:0012476	Decreased specific pneumococcal antibody level	1/1	OMIM:617006
7535	ZAP70	HP:0001744	Splenomegaly	-	OMIM:269840
7535	ZAP70	HP:0005406	Recurrent bacterial skin infections	HP:0040283	ORPHA:911
7535	ZAP70	HP:0005422	Absence of CD8-positive T cells	1/1	OMIM:269840
7535	ZAP70	HP:0005422	Absence of CD8-positive T cells	HP:0040282	ORPHA:911
7535	ZAP70	HP:0005415	Decreased CD8+ T cell proportion	HP:0040282	ORPHA:911
7535	ZAP70	HP:0005401	Recurrent candida infections	1/1	OMIM:269840
7535	ZAP70	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:911
7535	ZAP70	HP:0005390	Recurrent opportunistic infections	HP:0040281	ORPHA:911
7535	ZAP70	HP:0012579	Minimal change glomerulonephritis	1/2	OMIM:617006
7535	ZAP70	HP:0001890	Autoimmune hemolytic anemia	HP:0040284	ORPHA:911
7535	ZAP70	HP:0001880	Increased total eosinophil count	HP:0040283	ORPHA:911
7543	ZFX	HP:0001176	Large hands	1/18	OMIM:301118
7543	ZFX	HP:0001187	Hyperextensibility of the finger joints	1/18	OMIM:301118
7543	ZFX	HP:0001182	Tapered finger	1/18	OMIM:301118
7543	ZFX	HP:0009931	Enlarged naris	2/18	OMIM:301118
7543	ZFX	HP:0009890	High anterior hairline	1/18	OMIM:301118
7543	ZFX	HP:0010862	Delayed fine motor development	16/18	OMIM:301118
7543	ZFX	HP:0010864	Intellectual disability, severe	0/13	OMIM:301118
7543	ZFX	HP:0003763	Bruxism	1/18	OMIM:301118
7543	ZFX	HP:0025267	Snoring	2/17	OMIM:301118
7543	ZFX	HP:0001256	Intellectual disability, mild	5/14	OMIM:301118
7543	ZFX	HP:0001250	Seizure	1/1	OMIM:301118
7543	ZFX	HP:0001252	Hypotonia	13/18	OMIM:301118
7543	ZFX	HP:0001249	Intellectual disability	4/4	OMIM:301118
7543	ZFX	HP:0002578	Gastroparesis	1/18	OMIM:301118
7543	ZFX	HP:0002591	Polyphagia	1/18	OMIM:301118
7543	ZFX	HP:0001263	Global developmental delay	1/2	OMIM:301118
7543	ZFX	HP:0007443	Partial albinism	1/18	OMIM:301118
7543	ZFX	HP:0006101	Finger syndactyly	1/18	OMIM:301118
7543	ZFX	HP:0100874	Thick hair	1/18	OMIM:301118
7543	ZFX	HP:0002553	Highly arched eyebrow	1/18	OMIM:301118
7543	ZFX	HP:0001217	Clubbing	1/18	OMIM:301118
7543	ZFX	HP:0000085	Horseshoe kidney	2/17	OMIM:301118
7543	ZFX	HP:0000044	Hypogonadotropic hypogonadism	1/11	OMIM:301118
7543	ZFX	HP:0001373	Joint dislocation	1/18	OMIM:301118
7543	ZFX	HP:0012028	Hepatocellular adenoma	1/16	OMIM:301118
7543	ZFX	HP:0001385	Hip dysplasia	1/18	OMIM:301118
7543	ZFX	HP:0001382	Joint hypermobility	2/2	OMIM:301118
7543	ZFX	HP:0000047	Hypospadias	8/14	OMIM:301118
7543	ZFX	HP:0000023	Inguinal hernia	13/18	OMIM:301118
7543	ZFX	HP:0000028	Cryptorchidism	5/14	OMIM:301118
7543	ZFX	HP:0006191	Deep palmar crease	1/18	OMIM:301118
7543	ZFX	HP:0001342	Cerebral hemorrhage	1/18	OMIM:301118
7543	ZFX	HP:0002650	Scoliosis	4/4	OMIM:301118
7543	ZFX	HP:0002616	Aortic root aneurysm	1/14	OMIM:301118
7543	ZFX	HP:0000189	Narrow palate	1/18	OMIM:301118
7543	ZFX	HP:0000158	Macroglossia	9/18	OMIM:301118
7543	ZFX	HP:0000175	Cleft palate	2/18	OMIM:301118
7543	ZFX	HP:0001476	Delayed closure of the anterior fontanelle	1/18	OMIM:301118
7543	ZFX	HP:0000154	Wide mouth	3/18	OMIM:301118
7543	ZFX	HP:0006335	Persistence of primary teeth	1/18	OMIM:301118
7543	ZFX	HP:0000121	Nephrocalcinosis	2/17	OMIM:301118
7543	ZFX	HP:0000126	Hydronephrosis	2/17	OMIM:301118
7543	ZFX	HP:0002750	Delayed skeletal maturation	1/12	OMIM:301118
7543	ZFX	HP:0001417	X-linked inheritance	-	OMIM:301118
7543	ZFX	HP:0002021	Pyloric stenosis	4/18	OMIM:301118
7543	ZFX	HP:0002019	Constipation	4/16	OMIM:301118
7543	ZFX	HP:0002035	Rectal prolapse	1/18	OMIM:301118
7543	ZFX	HP:0002033	Poor suck	1/18	OMIM:301118
7543	ZFX	HP:0002015	Dysphagia	1/18	OMIM:301118
7543	ZFX	HP:0002013	Vomiting	2/18	OMIM:301118
7543	ZFX	HP:0002007	Frontal bossing	1/18	OMIM:301118
7543	ZFX	HP:0003304	Spondylolysis	1/18	OMIM:301118
7543	ZFX	HP:0003301	Irregular vertebral endplates	1/18	OMIM:301118
7543	ZFX	HP:0003302	Spondylolisthesis	1/18	OMIM:301118
7543	ZFX	HP:0011800	Midface retrusion	2/18	OMIM:301118
7543	ZFX	HP:0002079	Hypoplasia of the corpus callosum	1/12	OMIM:301118
7543	ZFX	HP:0002059	Cerebral atrophy	2/13	OMIM:301118
7543	ZFX	HP:0002138	Subarachnoid hemorrhage	2/13	OMIM:301118
7543	ZFX	HP:0002121	Generalized non-motor (absence) seizure	1/17	OMIM:301118
7543	ZFX	HP:0003416	Spinal canal stenosis	1/13	OMIM:301118
7543	ZFX	HP:0002188	Delayed CNS myelination	1/13	OMIM:301118
7543	ZFX	HP:0002190	Choroid plexus cyst	2/13	OMIM:301118
7543	ZFX	HP:0002162	Low posterior hairline	2/18	OMIM:301118
7543	ZFX	HP:0100702	Arachnoid cyst	2/13	OMIM:301118
7543	ZFX	HP:0002217	Slow-growing hair	1/18	OMIM:301118
7543	ZFX	HP:0002213	Fine hair	2/18	OMIM:301118
7543	ZFX	HP:0010722	Asymmetry of the ears	1/18	OMIM:301118
7543	ZFX	HP:0009748	Large earlobe	2/18	OMIM:301118
7543	ZFX	HP:0002286	Fair hair	3/18	OMIM:301118
7543	ZFX	HP:0002280	Enlarged cisterna magna	0/13	OMIM:301118
7543	ZFX	HP:0007018	Attention deficit hyperactivity disorder	6/18	OMIM:301118
7543	ZFX	HP:0011968	Feeding difficulties	5/5	OMIM:301118
7543	ZFX	HP:0001057	Aplasia cutis congenita	1/18	OMIM:301118
7543	ZFX	HP:0002342	Intellectual disability, moderate	3/14	OMIM:301118
7543	ZFX	HP:0010808	Protruding tongue	1/18	OMIM:301118
7543	ZFX	HP:0001097	Keratoconjunctivitis sicca	1/18	OMIM:301118
7543	ZFX	HP:0100633	Esophagitis	1/18	OMIM:301118
7543	ZFX	HP:0008455	Dysplastic sacrum	1/18	OMIM:301118
7543	ZFX	HP:0009765	Low hanging columella	1/18	OMIM:301118
7543	ZFX	HP:0003623	Neonatal onset	9/9	OMIM:301118
7543	ZFX	HP:0000639	Nystagmus	1/1	OMIM:301118
7543	ZFX	HP:0000637	Long palpebral fissure	3/18	OMIM:301118
7543	ZFX	HP:0000646	Amblyopia	1/18	OMIM:301118
7543	ZFX	HP:0000648	Optic atrophy	1/18	OMIM:301118
7543	ZFX	HP:0000629	Periorbital fullness	1/18	OMIM:301118
7543	ZFX	HP:0000609	Optic nerve hypoplasia	1/18	OMIM:301118
7543	ZFX	HP:6001070	Subdural hygroma	0/13	OMIM:301118
7543	ZFX	HP:0000684	Delayed eruption of teeth	1/18	OMIM:301118
7543	ZFX	HP:0000678	Dental crowding	1/18	OMIM:301118
7543	ZFX	HP:0000691	Microdontia	1/18	OMIM:301118
7543	ZFX	HP:0000656	Ectropion	1/18	OMIM:301118
7543	ZFX	HP:0000664	Synophrys	6/18	OMIM:301118
7543	ZFX	HP:0006970	Periventricular leukomalacia	1/13	OMIM:301118
7543	ZFX	HP:0004305	Involuntary movements	1/18	OMIM:301118
7543	ZFX	HP:0006934	Congenital nystagmus	1/18	OMIM:301118
7543	ZFX	HP:0003072	Hypercalcemia	1/11	OMIM:301118
7543	ZFX	HP:0031936	Delayed ability to walk	15/18	OMIM:301118
7543	ZFX	HP:0011410	Caesarean section	9/18	OMIM:301118
7543	ZFX	HP:0000767	Pectus excavatum	3/18	OMIM:301118
7543	ZFX	HP:0000768	Pectus carinatum	1/18	OMIM:301118
7543	ZFX	HP:0000739	Anxiety	2/18	OMIM:301118
7543	ZFX	HP:0000750	Delayed speech and language development	16/18	OMIM:301118
7543	ZFX	HP:0000744	Low frustration tolerance	1/18	OMIM:301118
7543	ZFX	HP:0000716	Depression	1/18	OMIM:301118
7543	ZFX	HP:0000718	Aggressive behavior	1/18	OMIM:301118
7543	ZFX	HP:0000717	Autism	9/18	OMIM:301118
7543	ZFX	HP:0000713	Agitation	1/18	OMIM:301118
7543	ZFX	HP:0000787	Nephrolithiasis	1/17	OMIM:301118
7543	ZFX	HP:0000926	Platyspondyly	1/18	OMIM:301118
7543	ZFX	HP:0100309	Subdural hemorrhage	1/13	OMIM:301118
7543	ZFX	HP:0003189	Long nose	1/18	OMIM:301118
7543	ZFX	HP:0004482	Relative macrocephaly	1/18	OMIM:301118
7543	ZFX	HP:0000843	Hyperparathyroidism	2/12	OMIM:301118
7543	ZFX	HP:0000822	Hypertension	1/14	OMIM:301118
7543	ZFX	HP:0000821	Hypothyroidism	1/11	OMIM:301118
7543	ZFX	HP:0000823	Delayed puberty	2/11	OMIM:301118
7543	ZFX	HP:0011599	Mesocardia	1/14	OMIM:301118
7543	ZFX	HP:0000998	Hypertrichosis	2/2	OMIM:301118
7543	ZFX	HP:0100259	Postaxial polydactyly	1/18	OMIM:301118
7543	ZFX	HP:0000954	Single transverse palmar crease	2/18	OMIM:301118
7543	ZFX	HP:0000938	Osteopenia	1/11	OMIM:301118
7543	ZFX	HP:0025592	Superior oblique muscle weakness	1/18	OMIM:301118
7543	ZFX	HP:0000286	Epicanthus	6/18	OMIM:301118
7543	ZFX	HP:0000280	Coarse facial features	1/18	OMIM:301118
7543	ZFX	HP:0000278	Retrognathia	1/18	OMIM:301118
7543	ZFX	HP:0000294	Low anterior hairline	1/18	OMIM:301118
7543	ZFX	HP:0000260	Wide anterior fontanel	1/18	OMIM:301118
7543	ZFX	HP:0000262	Turricephaly	1/16	OMIM:301118
7543	ZFX	HP:0000256	Macrocephaly	2/2	OMIM:301118
7543	ZFX	HP:0000275	Narrow face	0/18	OMIM:301118
7543	ZFX	HP:0000276	Long face	4/18	OMIM:301118
7543	ZFX	HP:0000272	Malar flattening	1/18	OMIM:301118
7543	ZFX	HP:0030084	Clinodactyly	1/18	OMIM:301118
7543	ZFX	HP:0002897	Parathyroid adenoma	1/16	OMIM:301118
7543	ZFX	HP:0000219	Thin upper lip vermilion	12/18	OMIM:301118
7543	ZFX	HP:0000218	High palate	3/18	OMIM:301118
7543	ZFX	HP:0001562	Oligohydramnios	1/18	OMIM:301118
7543	ZFX	HP:0001561	Polyhydramnios	2/18	OMIM:301118
7543	ZFX	HP:0002870	Obstructive sleep apnea	4/18	OMIM:301118
7543	ZFX	HP:0001537	Umbilical hernia	9/18	OMIM:301118
7543	ZFX	HP:0030031	Small toe	1/18	OMIM:301118
7543	ZFX	HP:0000201	Pierre-Robin sequence	1/18	OMIM:301118
7543	ZFX	HP:0001520	Large for gestational age	1/18	OMIM:301118
7543	ZFX	HP:0011069	Supernumerary tooth	3/18	OMIM:301118
7543	ZFX	HP:0000384	Preauricular skin tag	1/18	OMIM:301118
7543	ZFX	HP:0000378	Cupped ear	1/18	OMIM:301118
7543	ZFX	HP:0000396	Overfolded helix	1/18	OMIM:301118
7543	ZFX	HP:0000391	Thickened helices	2/18	OMIM:301118
7543	ZFX	HP:0002943	Thoracic scoliosis	1/18	OMIM:301118
7543	ZFX	HP:0000358	Posteriorly rotated ears	3/18	OMIM:301118
7543	ZFX	HP:0011003	High myopia	1/18	OMIM:301118
7543	ZFX	HP:0000369	Low-set ears	1/18	OMIM:301118
7543	ZFX	HP:0000341	Narrow forehead	1/18	OMIM:301118
7543	ZFX	HP:0000343	Long philtrum	7/18	OMIM:301118
7543	ZFX	HP:0000337	Broad forehead	3/18	OMIM:301118
7543	ZFX	HP:0001680	Coarctation of aorta	1/14	OMIM:301118
7543	ZFX	HP:0000347	Micrognathia	2/18	OMIM:301118
7543	ZFX	HP:0000319	Smooth philtrum	6/18	OMIM:301118
7543	ZFX	HP:0031473	Anger	3/18	OMIM:301118
7543	ZFX	HP:0001647	Bicuspid aortic valve	1/14	OMIM:301118
7543	ZFX	HP:0000316	Hypertelorism	1/18	OMIM:301118
7543	ZFX	HP:0001643	Patent ductus arteriosus	5/15	OMIM:301118
7543	ZFX	HP:0001629	Ventricular septal defect	2/14	OMIM:301118
7543	ZFX	HP:0001622	Premature birth	6/18	OMIM:301118
7543	ZFX	HP:0000307	Pointed chin	7/18	OMIM:301118
7543	ZFX	HP:0001631	Atrial septal defect	1/14	OMIM:301118
7543	ZFX	HP:0000303	Mandibular prognathia	2/18	OMIM:301118
7543	ZFX	HP:0000407	Sensorineural hearing impairment	6/18	OMIM:301118
7543	ZFX	HP:0000405	Conductive hearing impairment	5/18	OMIM:301118
7543	ZFX	HP:0000400	Macrotia	0/18	OMIM:301118
7543	ZFX	HP:0005280	Depressed nasal bridge	4/18	OMIM:301118
7543	ZFX	HP:0000483	Astigmatism	4/18	OMIM:301118
7543	ZFX	HP:0000486	Strabismus	1/18	OMIM:301118
7543	ZFX	HP:0000494	Downslanted palpebral fissures	2/18	OMIM:301118
7543	ZFX	HP:0001792	Small nail	1/18	OMIM:301118
7543	ZFX	HP:0000455	Broad nasal tip	2/18	OMIM:301118
7543	ZFX	HP:0000475	Broad neck	1/18	OMIM:301118
7543	ZFX	HP:0001773	Short foot	1/18	OMIM:301118
7543	ZFX	HP:0000448	Prominent nose	0/18	OMIM:301118
7543	ZFX	HP:0000414	Bulbous nose	3/18	OMIM:301118
7543	ZFX	HP:0012506	Small pituitary gland	1/13	OMIM:301118
7543	ZFX	HP:0000518	Cataract	1/18	OMIM:301118
7543	ZFX	HP:0001845	Overlapping toe	1/18	OMIM:301118
7543	ZFX	HP:0001840	Metatarsus adductus	1/18	OMIM:301118
7543	ZFX	HP:0001822	Hallux valgus	4/18	OMIM:301118
7543	ZFX	HP:0000506	Telecanthus	1/18	OMIM:301118
7543	ZFX	HP:0000505	Visual impairment	1/1	OMIM:301118
7543	ZFX	HP:0000501	Glaucoma	1/18	OMIM:301118
7543	ZFX	HP:0001831	Short toe	1/18	OMIM:301118
7543	ZFX	HP:0001814	Deep-set nails	1/18	OMIM:301118
7543	ZFX	HP:0000582	Upslanted palpebral fissure	1/18	OMIM:301118
7543	ZFX	HP:0000581	Blepharophimosis	1/18	OMIM:301118
7543	ZFX	HP:0011229	Broad eyebrow	8/18	OMIM:301118
7543	ZFX	HP:0011231	Prominent eyelashes	1/18	OMIM:301118
7543	ZFX	HP:0011220	Prominent forehead	4/18	OMIM:301118
7543	ZFX	HP:0000574	Thick eyebrow	4/18	OMIM:301118
7543	ZFX	HP:0012532	Chronic pain	1/18	OMIM:301118
7543	ZFX	HP:0000541	Retinal detachment	1/18	OMIM:301118
7543	ZFX	HP:0000540	Hypermetropia	1/18	OMIM:301118
7543	ZFX	HP:0012520	Dilation of Virchow-Robin spaces	1/13	OMIM:301118
7543	ZFX	HP:0000545	Myopia	4/4	OMIM:301118
7545	ZIC1	HP:0001156	Brachydactyly	HP:0040283	ORPHA:35099
7545	ZIC1	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:35099
7545	ZIC1	HP:0001272	Cerebellar atrophy	-	OMIM:616602
7545	ZIC1	HP:0001274	Agenesis of corpus callosum	1/9	OMIM:616602
7545	ZIC1	HP:0001274	Agenesis of corpus callosum	1/9	OMIM:618736
7545	ZIC1	HP:0001252	Hypotonia	3/9	OMIM:616602
7545	ZIC1	HP:0001249	Intellectual disability	9/9	OMIM:618736
7545	ZIC1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:35099
7545	ZIC1	HP:0001263	Global developmental delay	-	OMIM:616602
7545	ZIC1	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:35099
7545	ZIC1	HP:0002697	Parietal foramina	1/9	OMIM:616602
7545	ZIC1	HP:0001363	Craniosynostosis	9/9	OMIM:616602
7545	ZIC1	HP:0001357	Plagiocephaly	1/9	OMIM:616602
7545	ZIC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618736
7545	ZIC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616602
7545	ZIC1	HP:0001305	Dandy-Walker malformation	1/9	OMIM:616602
7545	ZIC1	HP:0001305	Dandy-Walker malformation	1/9	OMIM:618736
7545	ZIC1	HP:0002650	Scoliosis	2/9	OMIM:618736
7545	ZIC1	HP:0002650	Scoliosis	2/9	OMIM:616602
7545	ZIC1	HP:0001476	Delayed closure of the anterior fontanelle	2/9	OMIM:618736
7545	ZIC1	HP:0012110	Hypoplasia of the pons	3/9	OMIM:618736
7545	ZIC1	HP:0011800	Midface retrusion	HP:0040283	ORPHA:35099
7545	ZIC1	HP:0003593	Infantile onset	6/9	OMIM:616602
7545	ZIC1	HP:0003577	Congenital onset	3/9	OMIM:616602
7545	ZIC1	HP:0009701	Metacarpal synostosis	HP:0040283	ORPHA:35099
7545	ZIC1	HP:0000609	Optic nerve hypoplasia	1/9	OMIM:618736
7545	ZIC1	HP:0011322	Right unilambdoid synostosis	1/9	OMIM:616602
7545	ZIC1	HP:0011318	Bicoronal synostosis	6/9	OMIM:618736
7545	ZIC1	HP:0011318	Bicoronal synostosis	6/9	OMIM:616602
7545	ZIC1	HP:0006956	Lateral ventricle dilatation	2/9	OMIM:616602
7545	ZIC1	HP:0006956	Lateral ventricle dilatation	2/9	OMIM:618736
7545	ZIC1	HP:0000729	Autistic behavior	2/9	OMIM:618736
7545	ZIC1	HP:0004443	Lambdoidal craniosynostosis	1/9	OMIM:618736
7545	ZIC1	HP:0003298	Spina bifida occulta	1/9	OMIM:616602
7545	ZIC1	HP:0003298	Spina bifida occulta	2/9	OMIM:618736
7545	ZIC1	HP:0000294	Low anterior hairline	2/9	OMIM:616602
7545	ZIC1	HP:0000294	Low anterior hairline	1/9	OMIM:618736
7545	ZIC1	HP:0000262	Turricephaly	1/9	OMIM:616602
7545	ZIC1	HP:0000270	Delayed cranial suture closure	2/9	OMIM:616602
7545	ZIC1	HP:0000252	Microcephaly	3/9	OMIM:618736
7545	ZIC1	HP:0000252	Microcephaly	3/9	OMIM:616602
7545	ZIC1	HP:0000248	Brachycephaly	HP:0040281	ORPHA:35099
7545	ZIC1	HP:0000248	Brachycephaly	1/9	OMIM:616602
7545	ZIC1	HP:0000248	Brachycephaly	-	OMIM:618736
7545	ZIC1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:35099
7545	ZIC1	HP:0000337	Broad forehead	HP:0040281	ORPHA:35099
7545	ZIC1	HP:0000348	High forehead	3/9	OMIM:616602
7545	ZIC1	HP:0000348	High forehead	3/9	OMIM:618736
7545	ZIC1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:35099
7545	ZIC1	HP:0000316	Hypertelorism	1/9	OMIM:616602
7545	ZIC1	HP:0000324	Facial asymmetry	-	OMIM:618736
7545	ZIC1	HP:0000407	Sensorineural hearing impairment	1/9	OMIM:616602
7545	ZIC1	HP:0000486	Strabismus	5/9	OMIM:618736
7545	ZIC1	HP:0000486	Strabismus	5/9	OMIM:616602
7545	ZIC1	HP:0000494	Downslanted palpebral fissures	3/9	OMIM:618736
7545	ZIC1	HP:0005469	Flat occiput	1/9	OMIM:618736
7545	ZIC1	HP:0000520	Proptosis	HP:0040282	ORPHA:35099
7545	ZIC1	HP:0000508	Ptosis	3/9	OMIM:618736
7545	ZIC1	HP:0000508	Ptosis	3/9	OMIM:616602
7546	ZIC2	HP:0002465	Poor speech	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0002465	Poor speech	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0002465	Poor speech	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0002465	Poor speech	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0002474	Expressive language delay	HP:0040282	ORPHA:280195
7546	ZIC2	HP:0002451	Limb dystonia	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0002451	Limb dystonia	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0009932	Single naris	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0009932	Single naris	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0009932	Single naris	HP:0040284	ORPHA:93924
7546	ZIC2	HP:0009932	Single naris	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0009914	Cyclopia	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0009914	Cyclopia	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0009914	Cyclopia	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0009914	Cyclopia	HP:0040284	ORPHA:93924
7546	ZIC2	HP:0009914	Cyclopia	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0002418	Abnormal midbrain morphology	HP:0040282	ORPHA:280195
7546	ZIC2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:280195
7546	ZIC2	HP:0001272	Cerebellar atrophy	1/1	OMIM:609637
7546	ZIC2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:280195
7546	ZIC2	HP:0001254	Lethargy	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0001254	Lethargy	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0001254	Lethargy	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0001254	Lethargy	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0001250	Seizure	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0001250	Seizure	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0001250	Seizure	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0001250	Seizure	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0001250	Seizure	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0001250	Seizure	-	OMIM:609637
7546	ZIC2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280195
7546	ZIC2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280200
7546	ZIC2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0001249	Intellectual disability	-	OMIM:609637
7546	ZIC2	HP:0001263	Global developmental delay	1/1	OMIM:609637
7546	ZIC2	HP:0001257	Spasticity	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0001257	Spasticity	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0001257	Spasticity	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0001257	Spasticity	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0007375	Abnormal septum pellucidum morphology	HP:0040283	ORPHA:280195
7546	ZIC2	HP:0007330	Frontoethmoidal encephalocele	HP:0040283	ORPHA:280195
7546	ZIC2	HP:0002540	Inability to walk	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0002540	Inability to walk	HP:0040284	ORPHA:93924
7546	ZIC2	HP:0002540	Inability to walk	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0002540	Inability to walk	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0002507	Semilobar holoprosencephaly	1/1	OMIM:609637
7546	ZIC2	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0001371	Flexion contracture	HP:0040284	ORPHA:93924
7546	ZIC2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0001355	Megalencephaly	HP:0040283	ORPHA:280195
7546	ZIC2	HP:0001347	Hyperreflexia	1/1	OMIM:609637
7546	ZIC2	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0001360	Holoprosencephaly	-	OMIM:609637
7546	ZIC2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:280195
7546	ZIC2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0001344	Absent speech	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0001344	Absent speech	HP:0040284	ORPHA:93924
7546	ZIC2	HP:0001344	Absent speech	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0001344	Absent speech	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:609637
7546	ZIC2	HP:0002650	Scoliosis	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0002650	Scoliosis	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0002650	Scoliosis	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0002650	Scoliosis	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0002650	Scoliosis	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0000193	Bifid uvula	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0000193	Bifid uvula	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0000175	Cleft palate	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0000175	Cleft palate	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0000175	Cleft palate	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0000175	Cleft palate	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0000175	Cleft palate	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:280200
7546	ZIC2	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0006315	Solitary median maxillary central incisor	HP:0040284	ORPHA:93924
7546	ZIC2	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0008947	Floppy infant	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0008947	Floppy infant	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0008947	Floppy infant	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0008947	Floppy infant	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:280195
7546	ZIC2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0002793	Abnormal pattern of respiration	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0032549	Persistent asymmetrical tonic neck reflex	1/1	OMIM:609637
7546	ZIC2	HP:0000104	Renal agenesis	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0002019	Constipation	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0002019	Constipation	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0002019	Constipation	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0002019	Constipation	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0002033	Poor suck	HP:0040281	ORPHA:93926
7546	ZIC2	HP:0002033	Poor suck	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0002033	Poor suck	HP:0040281	ORPHA:93925
7546	ZIC2	HP:0002033	Poor suck	HP:0040281	ORPHA:220386
7546	ZIC2	HP:0002002	Deep philtrum	14/30	OMIM:609637
7546	ZIC2	HP:0002015	Dysphagia	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0002015	Dysphagia	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0002015	Dysphagia	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0002015	Dysphagia	HP:0040283	ORPHA:280195
7546	ZIC2	HP:0002015	Dysphagia	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0002013	Vomiting	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0002013	Vomiting	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0002013	Vomiting	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0002013	Vomiting	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0005968	Temperature instability	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0005968	Temperature instability	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0005968	Temperature instability	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0005968	Temperature instability	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0002099	Asthma	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280195
7546	ZIC2	HP:0002119	Ventriculomegaly	1/1	OMIM:609637
7546	ZIC2	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0003577	Congenital onset	2/2	OMIM:609637
7546	ZIC2	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0100702	Arachnoid cyst	1/1	OMIM:609637
7546	ZIC2	HP:0100710	Impulsivity	HP:0040282	ORPHA:280195
7546	ZIC2	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0010654	Aplasia of the falx cerebri	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0010644	Midnasal stenosis	HP:0040281	ORPHA:280200
7546	ZIC2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93926
7546	ZIC2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93924
7546	ZIC2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93925
7546	ZIC2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:220386
7546	ZIC2	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0001028	Hemangioma	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:280200
7546	ZIC2	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0006870	Lobar holoprosencephaly	10/83	OMIM:609637
7546	ZIC2	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0000612	Iris coloboma	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0000601	Hypotelorism	HP:0040282	ORPHA:280200
7546	ZIC2	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93926
7546	ZIC2	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93924
7546	ZIC2	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93925
7546	ZIC2	HP:0000601	Hypotelorism	HP:0040281	ORPHA:220386
7546	ZIC2	HP:0000601	Hypotelorism	-	OMIM:609637
7546	ZIC2	HP:0012650	Perisylvian polymicrogyria	HP:0040283	ORPHA:280195
7546	ZIC2	HP:0000664	Synophrys	4/30	OMIM:609637
7546	ZIC2	HP:0006988	Alobar holoprosencephaly	27/83	OMIM:609637
7546	ZIC2	HP:0004322	Short stature	HP:0040281	ORPHA:220386
7546	ZIC2	HP:0004322	Short stature	HP:0040282	ORPHA:280200
7546	ZIC2	HP:0004322	Short stature	HP:0040281	ORPHA:93926
7546	ZIC2	HP:0004322	Short stature	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0004322	Short stature	HP:0040281	ORPHA:93925
7546	ZIC2	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0006956	Lateral ventricle dilatation	1/1	OMIM:609637
7546	ZIC2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0031913	Rhombencephalosynapsis	HP:0040283	ORPHA:280195
7546	ZIC2	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:280195
7546	ZIC2	HP:0000737	Irritability	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0000737	Irritability	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0000737	Irritability	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0000737	Irritability	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0000739	Anxiety	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0000739	Anxiety	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0000739	Anxiety	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0000739	Anxiety	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0000736	Short attention span	HP:0040282	ORPHA:280195
7546	ZIC2	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0000741	Apathy	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0000741	Apathy	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0000741	Apathy	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0000741	Apathy	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0000716	Depression	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0000716	Depression	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0000716	Depression	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0000716	Depression	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:280195
7546	ZIC2	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0011461	Fetal onset	1/1	OMIM:609637
7546	ZIC2	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0003196	Short nose	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0000873	Diabetes insipidus	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0000863	Central diabetes insipidus	-	OMIM:609637
7546	ZIC2	HP:0000863	Central diabetes insipidus	HP:0040282	ORPHA:280195
7546	ZIC2	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:280195
7546	ZIC2	HP:0012806	Proboscis	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0012806	Proboscis	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0012806	Proboscis	HP:0040284	ORPHA:93924
7546	ZIC2	HP:0012806	Proboscis	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0000826	Precocious puberty	HP:0040282	ORPHA:280195
7546	ZIC2	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0045005	Neural tube defect	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0045005	Neural tube defect	HP:0040284	ORPHA:93924
7546	ZIC2	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0000256	Macrocephaly	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0000243	Trigonocephaly	-	OMIM:609637
7546	ZIC2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0000238	Hydrocephalus	12/94	OMIM:609637
7546	ZIC2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0000252	Microcephaly	HP:0040283	ORPHA:280195
7546	ZIC2	HP:0000252	Microcephaly	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0000252	Microcephaly	HP:0040282	ORPHA:280200
7546	ZIC2	HP:0000252	Microcephaly	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0000252	Microcephaly	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0000252	Microcephaly	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0000252	Microcephaly	11/11	OMIM:609637
7546	ZIC2	HP:0000218	High palate	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0000218	High palate	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0000218	High palate	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0000218	High palate	12/69	OMIM:609637
7546	ZIC2	HP:0000218	High palate	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:280195
7546	ZIC2	HP:0002871	Central apnea	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0002871	Central apnea	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0002871	Central apnea	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0002871	Central apnea	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0000202	Orofacial cleft	7/69	OMIM:609637
7546	ZIC2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93926
7546	ZIC2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93925
7546	ZIC2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:220386
7546	ZIC2	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:280200
7546	ZIC2	HP:0001510	Growth delay	HP:0040281	ORPHA:93926
7546	ZIC2	HP:0001510	Growth delay	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0001510	Growth delay	HP:0040281	ORPHA:93925
7546	ZIC2	HP:0001510	Growth delay	HP:0040281	ORPHA:220386
7546	ZIC2	HP:0012385	Camptodactyly	1/1	OMIM:609637
7546	ZIC2	HP:0025670	Syntelencephaly	1/1	OMIM:609637
7546	ZIC2	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0000341	Narrow forehead	14/30	OMIM:609637
7546	ZIC2	HP:0000340	Sloping forehead	2/30	OMIM:609637
7546	ZIC2	HP:0000337	Broad forehead	2/30	OMIM:609637
7546	ZIC2	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:280195
7546	ZIC2	HP:0000348	High forehead	5/30	OMIM:609637
7546	ZIC2	HP:0000316	Hypertelorism	-	OMIM:609637
7546	ZIC2	HP:0000322	Short philtrum	HP:0040282	ORPHA:280200
7546	ZIC2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93926
7546	ZIC2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93924
7546	ZIC2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93925
7546	ZIC2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:220386
7546	ZIC2	HP:0001622	Premature birth	HP:0040282	ORPHA:280200
7546	ZIC2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0000400	Macrotia	12/30	OMIM:609637
7546	ZIC2	HP:0005280	Depressed nasal bridge	11/31	OMIM:609637
7546	ZIC2	HP:0000486	Strabismus	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93926
7546	ZIC2	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93925
7546	ZIC2	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:220386
7546	ZIC2	HP:0000463	Anteverted nares	HP:0040283	ORPHA:280200
7546	ZIC2	HP:0000463	Anteverted nares	22/30	OMIM:609637
7546	ZIC2	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93926
7546	ZIC2	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93924
7546	ZIC2	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93925
7546	ZIC2	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:220386
7546	ZIC2	HP:0000453	Choanal atresia	HP:0040281	ORPHA:280200
7546	ZIC2	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:280200
7546	ZIC2	HP:0000520	Proptosis	1/1	OMIM:609637
7546	ZIC2	HP:0000582	Upslanted palpebral fissure	29/30	OMIM:609637
7547	ZIC3	HP:0001161	Hand polydactyly	-	OMIM:314390
7547	ZIC3	HP:0002475	Myelomeningocele	2/13	OMIM:306955
7547	ZIC3	HP:0010963	Absence of stomach bubble on fetal sonography	1/1	OMIM:314390
7547	ZIC3	HP:0002410	Aqueductal stenosis	1/2	OMIM:306955
7547	ZIC3	HP:0002575	Tracheoesophageal fistula	11/11	OMIM:314390
7547	ZIC3	HP:0008750	Laryngeal atresia	1/1	OMIM:314390
7547	ZIC3	HP:0003811	Neonatal death	1/1	OMIM:314390
7547	ZIC3	HP:0000085	Horseshoe kidney	2/9	OMIM:306955
7547	ZIC3	HP:0000068	Urethral atresia	-	OMIM:314390
7547	ZIC3	HP:0001374	Congenital hip dislocation	1/11	OMIM:306955
7547	ZIC3	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
7547	ZIC3	HP:0001321	Cerebellar hypoplasia	1/11	OMIM:306955
7547	ZIC3	HP:0003974	Absent radius	-	OMIM:314390
7547	ZIC3	HP:0000126	Hydronephrosis	-	OMIM:314390
7547	ZIC3	HP:0000105	Enlarged kidney	-	OMIM:314390
7547	ZIC3	HP:0000105	Enlarged kidney	1/2	OMIM:306955
7547	ZIC3	HP:0000104	Renal agenesis	-	OMIM:306955
7547	ZIC3	HP:0001419	X-linked recessive inheritance	-	OMIM:314390
7547	ZIC3	HP:0001419	X-linked recessive inheritance	-	OMIM:306955
7547	ZIC3	HP:0002023	Anal atresia	1/2	OMIM:306955
7547	ZIC3	HP:0002023	Anal atresia	1/1	OMIM:314390
7547	ZIC3	HP:0003363	Abdominal situs inversus	11/13	OMIM:306955
7547	ZIC3	HP:0002032	Esophageal atresia	1/1	OMIM:314390
7547	ZIC3	HP:0003305	Block vertebrae	1/2	OMIM:306955
7547	ZIC3	HP:0002089	Pulmonary hypoplasia	1/1	OMIM:314390
7547	ZIC3	HP:0002098	Respiratory distress	-	OMIM:306955
7547	ZIC3	HP:0005912	Biliary atresia	1/11	OMIM:306955
7547	ZIC3	HP:0003468	Abnormal vertebral morphology	-	OMIM:314390
7547	ZIC3	HP:0009623	Proximal placement of thumb	-	OMIM:314390
7547	ZIC3	HP:0011861	Bilateral trilobed lung	1/2	OMIM:306955
7547	ZIC3	HP:0003577	Congenital onset	11/11	OMIM:306955
7547	ZIC3	HP:0002240	Hepatomegaly	1/2	OMIM:306955
7547	ZIC3	HP:0002247	Duodenal atresia	1/11	OMIM:306955
7547	ZIC3	HP:0033379	Bilateral superior vena cava	1/2	OMIM:306955
7547	ZIC3	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
7547	ZIC3	HP:0031853	Isomerism	-	OMIM:314390
7547	ZIC3	HP:0030680	Abnormal cardiovascular system morphology	-	OMIM:314390
7547	ZIC3	HP:0004383	Hypoplastic left heart	2/2	OMIM:306955
7547	ZIC3	HP:0034197	Third trimester onset	1/1	OMIM:314390
7547	ZIC3	HP:0003026	Short long bone	1/2	OMIM:306955
7547	ZIC3	HP:0000925	Abnormality of the vertebral column	-	OMIM:314390
7547	ZIC3	HP:0004467	Preauricular pit	-	OMIM:187500
7547	ZIC3	HP:0005792	Short humerus	-	OMIM:314390
7547	ZIC3	HP:0011536	Right atrial isomerism	1/2	OMIM:306955
7547	ZIC3	HP:0011565	Common atrium	-	OMIM:306955
7547	ZIC3	HP:0012890	Posteriorly placed anus	1/11	OMIM:306955
7547	ZIC3	HP:0011560	Mitral atresia	2/11	OMIM:306955
7547	ZIC3	HP:0010305	Absence of the sacrum	1/11	OMIM:306955
7547	ZIC3	HP:0000961	Cyanosis	-	OMIM:306955
7547	ZIC3	HP:0000960	Sacral dimple	1/1	OMIM:314390
7547	ZIC3	HP:0011670	Left superior vena cava draining to coronary sinus	1/2	OMIM:306955
7547	ZIC3	HP:0000238	Hydrocephalus	-	OMIM:314390
7547	ZIC3	HP:0000238	Hydrocephalus	2/13	OMIM:306955
7547	ZIC3	HP:0001561	Polyhydramnios	1/1	OMIM:314390
7547	ZIC3	HP:0001561	Polyhydramnios	1/2	OMIM:306955
7547	ZIC3	HP:0031348	Dextrotransposition of the great arteries	3/11	OMIM:306955
7547	ZIC3	HP:0001539	Omphalocele	1/9	OMIM:306955
7547	ZIC3	HP:0001508	Failure to thrive	-	OMIM:306955
7547	ZIC3	HP:0005160	Total anomalous pulmonary venous return	2/2	OMIM:306955
7547	ZIC3	HP:0000369	Low-set ears	2/9	OMIM:306955
7547	ZIC3	HP:0001674	Complete atrioventricular canal defect	1/11	OMIM:306955
7547	ZIC3	HP:0001669	Transposition of the great arteries	6/11	OMIM:306955
7547	ZIC3	HP:0001669	Transposition of the great arteries	-	OMIM:314390
7547	ZIC3	HP:0000337	Broad forehead	-	OMIM:187500
7547	ZIC3	HP:0001682	Subvalvular aortic stenosis	1/2	OMIM:306955
7547	ZIC3	HP:0001680	Coarctation of aorta	1/2	OMIM:306955
7547	ZIC3	HP:0001651	Dextrocardia	1/1	OMIM:314390
7547	ZIC3	HP:0001651	Dextrocardia	4/11	OMIM:306955
7547	ZIC3	HP:0012304	Hypoplastic aortic arch	1/2	OMIM:306955
7547	ZIC3	HP:0000316	Hypertelorism	-	OMIM:306955
7547	ZIC3	HP:0001643	Patent ductus arteriosus	1/2	OMIM:306955
7547	ZIC3	HP:0001642	Pulmonic stenosis	6/11	OMIM:306955
7547	ZIC3	HP:0001655	Patent foramen ovale	1/2	OMIM:306955
7547	ZIC3	HP:0001629	Ventricular septal defect	11/12	OMIM:306955
7547	ZIC3	HP:0001640	Cardiomegaly	3/11	OMIM:306955
7547	ZIC3	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
7547	ZIC3	HP:0001631	Atrial septal defect	-	OMIM:306955
7547	ZIC3	HP:0005301	Persistent left superior vena cava	1/1	OMIM:314390
7547	ZIC3	HP:0006695	Atrioventricular canal defect	-	OMIM:314390
7547	ZIC3	HP:0006695	Atrioventricular canal defect	1/2	OMIM:306955
7547	ZIC3	HP:0001719	Double outlet right ventricle	1/2	OMIM:306955
7547	ZIC3	HP:0001718	Mitral stenosis	1/2	OMIM:306955
7547	ZIC3	HP:0001776	Bilateral talipes equinovarus	2/13	OMIM:306955
7547	ZIC3	HP:0001750	Single ventricle	3/20	OMIM:306955
7547	ZIC3	HP:0001746	Asplenia	7/12	OMIM:306955
7547	ZIC3	HP:0001748	Polysplenia	2/5	OMIM:306955
7547	ZIC3	HP:0000520	Proptosis	-	OMIM:187500
7547	ZIC3	HP:0001800	Hypoplastic toenails	1/2	OMIM:306955
7552	ZNF711	HP:0001270	Motor delay	4/11	OMIM:300803
7552	ZNF711	HP:0001249	Intellectual disability	11/11	OMIM:300803
7552	ZNF711	HP:0001417	X-linked inheritance	-	OMIM:300803
7552	ZNF711	HP:0002342	Intellectual disability, moderate	11/11	OMIM:300803
7552	ZNF711	HP:0000664	Synophrys	3/11	OMIM:300803
7552	ZNF711	HP:0000750	Delayed speech and language development	10/11	OMIM:300803
7552	ZNF711	HP:0000729	Autistic behavior	2/11	OMIM:300803
7552	ZNF711	HP:0011463	Childhood onset	-	OMIM:300803
7552	ZNF711	HP:0000283	Broad face	6/11	OMIM:300803
7552	ZNF711	HP:0000276	Long face	4/11	OMIM:300803
7552	ZNF711	HP:0001513	Obesity	4/11	OMIM:300803
7552	ZNF711	HP:0000400	Macrotia	4/11	OMIM:300803
7552	ZNF711	HP:0011220	Prominent forehead	3/11	OMIM:300803
7555	CNBP	HP:0002486	Myotonia	HP:0040281	ORPHA:606
7555	CNBP	HP:0002486	Myotonia	-	OMIM:602668
7555	CNBP	HP:0003722	Neck flexor weakness	-	OMIM:602668
7555	CNBP	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:606
7555	CNBP	HP:0003701	Proximal muscle weakness	1/1	OMIM:602668
7555	CNBP	HP:0003700	Generalized amyotrophy	1/1	OMIM:602668
7555	CNBP	HP:0001249	Intellectual disability	0/1	OMIM:602668
7555	CNBP	HP:0001265	Hyporeflexia	1/1	OMIM:602668
7555	CNBP	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:606
7555	CNBP	HP:0012036	Sternocleidomastoid amyotrophy	1/1	OMIM:602668
7555	CNBP	HP:0001348	Brisk reflexes	HP:0040283	ORPHA:606
7555	CNBP	HP:0000026	Male hypogonadism	HP:0040283	ORPHA:606
7555	CNBP	HP:0000006	Autosomal dominant inheritance	-	OMIM:602668
7555	CNBP	HP:0000135	Hypogonadism	-	OMIM:602668
7555	CNBP	HP:0008981	Calf muscle hypertrophy	HP:0040283	ORPHA:606
7555	CNBP	HP:0002019	Constipation	HP:0040282	ORPHA:606
7555	CNBP	HP:0002027	Abdominal pain	HP:0040282	ORPHA:606
7555	CNBP	HP:0003327	Axial muscle weakness	HP:0040281	ORPHA:606
7555	CNBP	HP:0003326	Myalgia	HP:0040281	ORPHA:606
7555	CNBP	HP:0003326	Myalgia	-	OMIM:602668
7555	CNBP	HP:0002015	Dysphagia	HP:0040282	ORPHA:606
7555	CNBP	HP:0005978	Type II diabetes mellitus	1/1	OMIM:602668
7555	CNBP	HP:0005978	Type II diabetes mellitus	HP:0040282	ORPHA:606
7555	CNBP	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:606
7555	CNBP	HP:0011712	Complete right bundle branch block	1/1	OMIM:602668
7555	CNBP	HP:0008189	Insulin insensitivity	-	OMIM:602668
7555	CNBP	HP:0008189	Insulin insensitivity	HP:0040282	ORPHA:606
7555	CNBP	HP:0008232	Elevated circulating follicle stimulating hormone level	-	OMIM:602668
7555	CNBP	HP:0003596	Middle age onset	1/1	OMIM:602668
7555	CNBP	HP:0003554	Type 2 muscle fiber atrophy	-	OMIM:602668
7555	CNBP	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:606
7555	CNBP	HP:0002292	Frontal balding	-	OMIM:602668
7555	CNBP	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:606
7555	CNBP	HP:0001962	Palpitations	-	OMIM:602668
7555	CNBP	HP:0004315	Decreased circulating IgG concentration	1/1	OMIM:602668
7555	CNBP	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040282	ORPHA:606
7555	CNBP	HP:0003077	Hyperlipidemia	HP:0040283	ORPHA:606
7555	CNBP	HP:0000798	Oligozoospermia	-	OMIM:602668
7555	CNBP	HP:0012899	Handgrip myotonia	1/1	OMIM:602668
7555	CNBP	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:602668
7555	CNBP	HP:0030891	Periventricular white matter hyperintensities	1/1	OMIM:602668
7555	CNBP	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:606
7555	CNBP	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:606
7555	CNBP	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:606
7555	CNBP	HP:0007787	Posterior subcapsular cataract	1/1	OMIM:602668
7555	CNBP	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:606
7555	CNBP	HP:0002850	Decreased circulating total IgM	-	OMIM:602668
7555	CNBP	HP:0012378	Fatigue	HP:0040283	ORPHA:606
7555	CNBP	HP:0007889	Iridescent posterior subcapsular cataract	-	OMIM:602668
7555	CNBP	HP:0002926	Abnormality of thyroid physiology	HP:0040283	ORPHA:606
7555	CNBP	HP:0001649	Tachycardia	-	OMIM:602668
7555	CNBP	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:606
7555	CNBP	HP:0030319	Weakness of facial musculature	1/1	OMIM:602668
7555	CNBP	HP:0030319	Weakness of facial musculature	HP:0040283	ORPHA:606
7555	CNBP	HP:0006682	Premature ventricular contraction	1/1	OMIM:602668
7555	CNBP	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:606
7555	CNBP	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:606
7555	CNBP	HP:0012452	Restless legs	HP:0040283	ORPHA:606
7555	CNBP	HP:0000518	Cataract	HP:0040281	ORPHA:606
7681	MKRN3	HP:0001159	Syndactyly	HP:0040283	OMIM:176270
7681	MKRN3	HP:0007328	Impaired pain sensation	HP:0040282	OMIM:176270
7681	MKRN3	HP:0003745	Sporadic	-	OMIM:176270
7681	MKRN3	HP:0001290	Generalized hypotonia	HP:0040281	OMIM:176270
7681	MKRN3	HP:0001270	Motor delay	HP:0040281	OMIM:176270
7681	MKRN3	HP:0001250	Seizure	31/154	OMIM:176270
7681	MKRN3	HP:0001249	Intellectual disability	12/12	OMIM:176270
7681	MKRN3	HP:0002591	Polyphagia	105/165	OMIM:176270
7681	MKRN3	HP:0001263	Global developmental delay	HP:0040281	OMIM:176270
7681	MKRN3	HP:0001262	Excessive daytime somnolence	8/12	OMIM:176270
7681	MKRN3	HP:0000064	Hypoplastic labia minora	HP:0040282	OMIM:176270
7681	MKRN3	HP:0000060	Clitoral hypoplasia	HP:0040282	OMIM:176270
7681	MKRN3	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	OMIM:176270
7681	MKRN3	HP:0000046	Small scrotum	-	OMIM:176270
7681	MKRN3	HP:0000054	Micropenis	HP:0040282	OMIM:176270
7681	MKRN3	HP:0001385	Hip dysplasia	27/90	OMIM:176270
7681	MKRN3	HP:0000028	Cryptorchidism	118/130	OMIM:176270
7681	MKRN3	HP:0008872	Feeding difficulties in infancy	HP:0040281	OMIM:176270
7681	MKRN3	HP:0007513	Generalized hypopigmentation	-	OMIM:176270
7681	MKRN3	HP:0001328	Specific learning disability	HP:0040281	OMIM:176270
7681	MKRN3	HP:0000006	Autosomal dominant inheritance	-	OMIM:176270
7681	MKRN3	HP:0002650	Scoliosis	150/180	OMIM:176270
7681	MKRN3	HP:0001319	Neonatal hypotonia	244/244	OMIM:176270
7681	MKRN3	HP:0002791	Hypoventilation	-	OMIM:176270
7681	MKRN3	HP:0002714	Downturned corners of mouth	HP:0040282	OMIM:176270
7681	MKRN3	HP:0002033	Poor suck	HP:0040281	OMIM:176270
7681	MKRN3	HP:0005968	Temperature instability	HP:0040283	OMIM:176270
7681	MKRN3	HP:0005978	Type II diabetes mellitus	12/82	OMIM:176270
7681	MKRN3	HP:0030919	Low 5-minute APGAR score	14/244	OMIM:176270
7681	MKRN3	HP:0030918	Low 1-minute APGAR score	55/244	OMIM:176270
7681	MKRN3	HP:0009466	Radial deviation of finger	HP:0040283	OMIM:176270
7681	MKRN3	HP:0002155	Hypertriglyceridemia	10/66	OMIM:176270
7681	MKRN3	HP:0002119	Ventriculomegaly	HP:0040282	OMIM:176270
7681	MKRN3	HP:0010535	Sleep apnea	HP:0040282	OMIM:176270
7681	MKRN3	HP:0003577	Congenital onset	98/244	OMIM:176270
7681	MKRN3	HP:0002236	Frontal upsweep of hair	HP:0040283	OMIM:176270
7681	MKRN3	HP:0100716	Self-injurious behavior	50/62	OMIM:176270
7681	MKRN3	HP:0002205	Recurrent respiratory infections	HP:0040282	OMIM:176270
7681	MKRN3	HP:0007010	Poor fine motor coordination	HP:0040283	OMIM:176270
7681	MKRN3	HP:0007015	Poor gross motor coordination	-	OMIM:176270
7681	MKRN3	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	OMIM:176270
7681	MKRN3	HP:0002360	Sleep abnormality	HP:0040282	OMIM:176270
7681	MKRN3	HP:0200055	Small hand	-	OMIM:176270
7681	MKRN3	HP:0033454	Tube feeding	216/244	OMIM:176270
7681	MKRN3	HP:0031878	Acromicria	-	OMIM:176270
7681	MKRN3	HP:0004283	Narrow palm	HP:0040281	OMIM:176270
7681	MKRN3	HP:0004279	Short palm	HP:0040281	OMIM:176270
7681	MKRN3	HP:0000670	Carious teeth	HP:0040283	OMIM:176270
7681	MKRN3	HP:0004322	Short stature	HP:0040281	OMIM:176270
7681	MKRN3	HP:0005616	Accelerated skeletal maturation	-	OMIM:615346
7681	MKRN3	HP:0012743	Abdominal obesity	-	OMIM:176270
7681	MKRN3	HP:0000750	Delayed speech and language development	HP:0040281	OMIM:176270
7681	MKRN3	HP:0000717	Autism	210/786	OMIM:176270
7681	MKRN3	HP:0000709	Psychosis	18/92	OMIM:176270
7681	MKRN3	HP:0000708	Atypical behavior	HP:0040282	OMIM:176270
7681	MKRN3	HP:0011461	Fetal onset	146/244	OMIM:176270
7681	MKRN3	HP:0000789	Infertility	HP:0040281	OMIM:176270
7681	MKRN3	HP:0000786	Primary amenorrhea	1/7	OMIM:176270
7681	MKRN3	HP:0003124	Hypercholesterolemia	42/66	OMIM:176270
7681	MKRN3	HP:0003199	Decreased muscle mass	HP:0040282	OMIM:176270
7681	MKRN3	HP:0000876	Oligomenorrhea	HP:0040282	OMIM:176270
7681	MKRN3	HP:0000846	Adrenal insufficiency	1/82	OMIM:176270
7681	MKRN3	HP:0000842	Hyperinsulinemia	-	OMIM:176270
7681	MKRN3	HP:0000826	Precocious puberty	-	OMIM:176270
7681	MKRN3	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040281	OMIM:176270
7681	MKRN3	HP:0000823	Delayed puberty	HP:0040282	OMIM:176270
7681	MKRN3	HP:0003233	Decreased HDL cholesterol concentration	23/66	OMIM:176270
7681	MKRN3	HP:0003241	External genital hypoplasia	HP:0040281	OMIM:176270
7681	MKRN3	HP:0010314	Premature thelarche	-	OMIM:615346
7681	MKRN3	HP:0000992	Cutaneous photosensitivity	HP:0040282	OMIM:176270
7681	MKRN3	HP:0000969	Edema	9/12	OMIM:176270
7681	MKRN3	HP:0000939	Osteoporosis	2/12	OMIM:176270
7681	MKRN3	HP:0000938	Osteopenia	HP:0040283	OMIM:176270
7681	MKRN3	HP:0012275	Autosomal dominant inheritance with maternal imprinting	-	OMIM:615346
7681	MKRN3	HP:0000268	Dolichocephaly	-	OMIM:176270
7681	MKRN3	HP:0030084	Clinodactyly	-	OMIM:176270
7681	MKRN3	HP:0002808	Kyphosis	HP:0040282	OMIM:176270
7681	MKRN3	HP:0000219	Thin upper lip vermilion	15/20	OMIM:176270
7681	MKRN3	HP:0001562	Oligohydramnios	16/244	OMIM:176270
7681	MKRN3	HP:0001561	Polyhydramnios	57/244	OMIM:176270
7681	MKRN3	HP:0001558	Decreased fetal movement	146/244	OMIM:176270
7681	MKRN3	HP:0025501	Class III obesity	90/165	OMIM:176270
7681	MKRN3	HP:0001531	Failure to thrive in infancy	HP:0040281	OMIM:176270
7681	MKRN3	HP:0002857	Genu valgum	-	OMIM:176270
7681	MKRN3	HP:0001511	Intrauterine growth retardation	50/244	OMIM:176270
7681	MKRN3	HP:0001513	Obesity	85/180	OMIM:176270
7681	MKRN3	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	OMIM:176270
7681	MKRN3	HP:0001611	Hypernasal speech	HP:0040282	OMIM:176270
7681	MKRN3	HP:0000341	Narrow forehead	HP:0040282	OMIM:176270
7681	MKRN3	HP:0001623	Breech presentation	70/244	OMIM:176270
7681	MKRN3	HP:0000486	Strabismus	-	OMIM:176270
7681	MKRN3	HP:0012450	Chronic constipation	5/12	OMIM:176270
7681	MKRN3	HP:0001773	Short foot	HP:0040281	OMIM:176270
7681	MKRN3	HP:0012411	Premature pubarche	-	OMIM:615346
7681	MKRN3	HP:0000446	Narrow nasal bridge	HP:0040282	OMIM:176270
7681	MKRN3	HP:0000582	Upslanted palpebral fissure	HP:0040283	OMIM:176270
7681	MKRN3	HP:0000565	Esotropia	HP:0040283	OMIM:176270
7681	MKRN3	HP:0000540	Hypermetropia	-	OMIM:176270
7681	MKRN3	HP:0000545	Myopia	HP:0040283	OMIM:176270
7700	ZNF141	HP:0001162	Postaxial hand polydactyly	4/4	OMIM:615226
7700	ZNF141	HP:0000007	Autosomal recessive inheritance	-	OMIM:615226
7700	ZNF141	HP:0003577	Congenital onset	4/4	OMIM:615226
7700	ZNF141	HP:0000971	Abnormal sweat gland morphology	0/4	OMIM:615226
7700	ZNF141	HP:0009374	Broad phalanges of the 5th finger	4/4	OMIM:615226
7700	ZNF141	HP:0001597	Abnormal nail morphology	0/4	OMIM:615226
7700	ZNF141	HP:0006482	Abnormal dental morphology	0/4	OMIM:615226
7700	ZNF141	HP:0001830	Postaxial foot polydactyly	4/4	OMIM:615226
7701	ZNF142	HP:0002487	Hyperkinetic movements	-	OMIM:618425
7701	ZNF142	HP:0001251	Ataxia	4/7	OMIM:618425
7701	ZNF142	HP:0001249	Intellectual disability	6/7	OMIM:618425
7701	ZNF142	HP:0001263	Global developmental delay	7/7	OMIM:618425
7701	ZNF142	HP:0025336	Delayed ability to sit	1/7	OMIM:618425
7701	ZNF142	HP:0001332	Dystonia	3/7	OMIM:618425
7701	ZNF142	HP:0000007	Autosomal recessive inheritance	-	OMIM:618425
7701	ZNF142	HP:0001337	Tremor	4/7	OMIM:618425
7701	ZNF142	HP:0008936	Axial hypotonia	1/7	OMIM:618425
7701	ZNF142	HP:0002069	Bilateral tonic-clonic seizure	5/7	OMIM:618425
7701	ZNF142	HP:0002072	Chorea	1/7	OMIM:618425
7701	ZNF142	HP:0003593	Infantile onset	5/7	OMIM:618425
7701	ZNF142	HP:0002395	Lower limb hyperreflexia	1/7	OMIM:618425
7701	ZNF142	HP:0003623	Neonatal onset	2/7	OMIM:618425
7701	ZNF142	HP:0000750	Delayed speech and language development	7/7	OMIM:618425
7701	ZNF142	HP:0000268	Dolichocephaly	4/7	OMIM:618425
7701	ZNF142	HP:0000473	Torticollis	3/7	OMIM:618425
7703	PCGF2	HP:0001182	Tapered finger	1/2	OMIM:618371
7703	PCGF2	HP:0001181	Adducted thumb	-	OMIM:618371
7703	PCGF2	HP:0008551	Microtia	8/15	OMIM:618371
7703	PCGF2	HP:0100807	Long fingers	-	OMIM:618371
7703	PCGF2	HP:0100818	Long thorax	-	OMIM:618371
7703	PCGF2	HP:0001252	Hypotonia	5/13	OMIM:618371
7703	PCGF2	HP:0001249	Intellectual disability	-	OMIM:618371
7703	PCGF2	HP:0001260	Dysarthria	-	OMIM:618371
7703	PCGF2	HP:0001263	Global developmental delay	-	OMIM:618371
7703	PCGF2	HP:0001382	Joint hypermobility	1/2	OMIM:618371
7703	PCGF2	HP:0001357	Plagiocephaly	-	OMIM:618371
7703	PCGF2	HP:0006237	Prominent interphalangeal joints	-	OMIM:618371
7703	PCGF2	HP:0008872	Feeding difficulties in infancy	6/13	OMIM:618371
7703	PCGF2	HP:0001328	Specific learning disability	2/2	OMIM:618371
7703	PCGF2	HP:0001344	Absent speech	3/13	OMIM:618371
7703	PCGF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618371
7703	PCGF2	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:618371
7703	PCGF2	HP:0000164	Abnormality of the dentition	-	OMIM:618371
7703	PCGF2	HP:0000160	Narrow mouth	7/13	OMIM:618371
7703	PCGF2	HP:0006334	Hypoplasia of the primary teeth	1/2	OMIM:618371
7703	PCGF2	HP:0008936	Axial hypotonia	-	OMIM:618371
7703	PCGF2	HP:0002750	Delayed skeletal maturation	-	OMIM:618371
7703	PCGF2	HP:0002714	Downturned corners of mouth	3/13	OMIM:618371
7703	PCGF2	HP:0002020	Gastroesophageal reflux	6/13	OMIM:618371
7703	PCGF2	HP:0002019	Constipation	3/15	OMIM:618371
7703	PCGF2	HP:0002007	Frontal bossing	12/15	OMIM:618371
7703	PCGF2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:618371
7703	PCGF2	HP:0002209	Sparse scalp hair	3/13	OMIM:618371
7703	PCGF2	HP:0002205	Recurrent respiratory infections	-	OMIM:618371
7703	PCGF2	HP:0007018	Attention deficit hyperactivity disorder	2/13	OMIM:618371
7703	PCGF2	HP:0003502	Mild short stature	1/2	OMIM:618371
7703	PCGF2	HP:0002389	Cavum septum pellucidum	-	OMIM:618371
7703	PCGF2	HP:0001054	Numerous nevi	-	OMIM:618371
7703	PCGF2	HP:0200055	Small hand	-	OMIM:618371
7703	PCGF2	HP:0002307	Drooling	1/2	OMIM:618371
7703	PCGF2	HP:0000629	Periorbital fullness	9/13	OMIM:618371
7703	PCGF2	HP:0000678	Dental crowding	-	OMIM:618371
7703	PCGF2	HP:0000691	Microdontia	-	OMIM:618371
7703	PCGF2	HP:0000689	Dental malocclusion	-	OMIM:618371
7703	PCGF2	HP:0000687	Widely spaced teeth	-	OMIM:618371
7703	PCGF2	HP:0004325	Decreased body weight	-	OMIM:618371
7703	PCGF2	HP:0005659	Thoracic kyphoscoliosis	-	OMIM:618371
7703	PCGF2	HP:0030676	Satyr ear	11/13	OMIM:618371
7703	PCGF2	HP:0000767	Pectus excavatum	2/13	OMIM:618371
7703	PCGF2	HP:0000768	Pectus carinatum	-	OMIM:618371
7703	PCGF2	HP:0000729	Autistic behavior	-	OMIM:618371
7703	PCGF2	HP:0000774	Narrow chest	-	OMIM:618371
7703	PCGF2	HP:0004482	Relative macrocephaly	-	OMIM:618371
7703	PCGF2	HP:0000879	Short sternum	-	OMIM:618371
7703	PCGF2	HP:0000995	Melanocytic nevus	1/2	OMIM:618371
7703	PCGF2	HP:0045025	Narrow palpebral fissure	5/13	OMIM:618371
7703	PCGF2	HP:0000297	Facial hypotonia	-	OMIM:618371
7703	PCGF2	HP:0000260	Wide anterior fontanel	1/13	OMIM:618371
7703	PCGF2	HP:0000256	Macrocephaly	1/2	OMIM:618371
7703	PCGF2	HP:0000276	Long face	7/15	OMIM:618371
7703	PCGF2	HP:0000272	Malar flattening	10/13	OMIM:618371
7703	PCGF2	HP:0030084	Clinodactyly	-	OMIM:618371
7703	PCGF2	HP:0000252	Microcephaly	-	OMIM:618371
7703	PCGF2	HP:0000248	Brachycephaly	-	OMIM:618371
7703	PCGF2	HP:0000219	Thin upper lip vermilion	5/13	OMIM:618371
7703	PCGF2	HP:0000218	High palate	4/13	OMIM:618371
7703	PCGF2	HP:0001561	Polyhydramnios	5/13	OMIM:618371
7703	PCGF2	HP:0002870	Obstructive sleep apnea	-	OMIM:618371
7703	PCGF2	HP:0001508	Failure to thrive	-	OMIM:618371
7703	PCGF2	HP:0001511	Intrauterine growth retardation	3/13	OMIM:618371
7703	PCGF2	HP:0002938	Lumbar hyperlordosis	-	OMIM:618371
7703	PCGF2	HP:0000369	Low-set ears	10/13	OMIM:618371
7703	PCGF2	HP:0000337	Broad forehead	-	OMIM:618371
7703	PCGF2	HP:0001643	Patent ductus arteriosus	-	OMIM:618371
7703	PCGF2	HP:0001659	Aortic regurgitation	-	OMIM:618371
7703	PCGF2	HP:0001631	Atrial septal defect	-	OMIM:618371
7703	PCGF2	HP:0000303	Mandibular prognathia	5/15	OMIM:618371
7703	PCGF2	HP:0001634	Mitral valve prolapse	-	OMIM:618371
7703	PCGF2	HP:0005302	Carotid artery tortuosity	2/13	OMIM:618371
7703	PCGF2	HP:0000405	Conductive hearing impairment	6/13	OMIM:618371
7703	PCGF2	HP:0001704	Tricuspid valve prolapse	-	OMIM:618371
7703	PCGF2	HP:0005274	Prominent nasal tip	10/13	OMIM:618371
7703	PCGF2	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:618371
7703	PCGF2	HP:0012450	Chronic constipation	-	OMIM:618371
7703	PCGF2	HP:0000473	Torticollis	-	OMIM:618371
7703	PCGF2	HP:0001761	Pes cavus	-	OMIM:618371
7703	PCGF2	HP:0001845	Overlapping toe	-	OMIM:618371
7704	ZBTB16	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7704	ZBTB16	HP:0001293	Cranial nerve compression	-	OMIM:131300
7704	ZBTB16	HP:0001252	Hypotonia	2/7	OMIM:615777
7704	ZBTB16	HP:0001249	Intellectual disability	5/7	OMIM:615777
7704	ZBTB16	HP:0001263	Global developmental delay	-	OMIM:615777
7704	ZBTB16	HP:0031035	Chronic infection	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0002515	Waddling gait	54/102	OMIM:131300
7704	ZBTB16	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0001382	Joint hypermobility	-	OMIM:615777
7704	ZBTB16	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7704	ZBTB16	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7704	ZBTB16	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7704	ZBTB16	HP:0001324	Muscle weakness	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0001324	Muscle weakness	40/96	OMIM:131300
7704	ZBTB16	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7704	ZBTB16	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7704	ZBTB16	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7704	ZBTB16	HP:0002653	Bone pain	HP:0040283	ORPHA:520
7704	ZBTB16	HP:0002650	Scoliosis	12/14	OMIM:131300
7704	ZBTB16	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7704	ZBTB16	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7704	ZBTB16	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7704	ZBTB16	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7704	ZBTB16	HP:0000175	Cleft palate	2/7	OMIM:615777
7704	ZBTB16	HP:0025420	Diffuse alveolar hemorrhage	HP:0040283	ORPHA:520
7704	ZBTB16	HP:0031245	Productive cough	HP:0040283	ORPHA:520
7704	ZBTB16	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:520
7704	ZBTB16	HP:0002027	Abdominal pain	HP:0040283	ORPHA:520
7704	ZBTB16	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:520
7704	ZBTB16	HP:0002039	Anorexia	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0003388	Easy fatigability	36/76	OMIM:131300
7704	ZBTB16	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7704	ZBTB16	HP:0011900	Hypofibrinogenemia	HP:0040283	ORPHA:520
7704	ZBTB16	HP:0100758	Gangrene	HP:0040284	ORPHA:520
7704	ZBTB16	HP:0003510	Severe short stature	7/7	OMIM:615777
7704	ZBTB16	HP:0002321	Vertigo	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0002315	Headache	-	OMIM:131300
7704	ZBTB16	HP:0004976	Knee dislocation	6/7	OMIM:615777
7704	ZBTB16	HP:0100608	Metrorrhagia	HP:0040284	ORPHA:520
7704	ZBTB16	HP:0009803	Short phalanx of finger	-	OMIM:615777
7704	ZBTB16	HP:0009763	Limb pain	63/92	OMIM:131300
7704	ZBTB16	HP:0003621	Juvenile onset	-	OMIM:131300
7704	ZBTB16	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7704	ZBTB16	HP:0005521	Disseminated intravascular coagulation	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7704	ZBTB16	HP:6001056	Out-toeing	-	OMIM:131300
7704	ZBTB16	HP:0000651	Diplopia	-	OMIM:131300
7704	ZBTB16	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:520
7704	ZBTB16	HP:0001945	Fever	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0001956	Truncal obesity	2/7	OMIM:615777
7704	ZBTB16	HP:0001903	Anemia	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0001903	Anemia	HP:0040283	OMIM:131300
7704	ZBTB16	HP:0010049	Short metacarpal	-	OMIM:615777
7704	ZBTB16	HP:0000678	Dental crowding	-	OMIM:615777
7704	ZBTB16	HP:0000670	Carious teeth	-	OMIM:131300
7704	ZBTB16	HP:0011304	Broad thumb	2/7	OMIM:615777
7704	ZBTB16	HP:0000668	Hypodontia	-	OMIM:615777
7704	ZBTB16	HP:0000664	Synophrys	-	OMIM:615777
7704	ZBTB16	HP:0004396	Poor appetite	-	OMIM:131300
7704	ZBTB16	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7704	ZBTB16	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7704	ZBTB16	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7704	ZBTB16	HP:0003026	Short long bone	7/7	OMIM:615777
7704	ZBTB16	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7704	ZBTB16	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7704	ZBTB16	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7704	ZBTB16	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7704	ZBTB16	HP:0000750	Delayed speech and language development	-	OMIM:615777
7704	ZBTB16	HP:0011461	Fetal onset	7/7	OMIM:615777
7704	ZBTB16	HP:0000774	Narrow chest	2/7	OMIM:615777
7704	ZBTB16	HP:0000790	Hematuria	HP:0040284	ORPHA:520
7704	ZBTB16	HP:0000926	Platyspondyly	1/7	OMIM:615777
7704	ZBTB16	HP:0003180	Flat acetabular roof	-	OMIM:615777
7704	ZBTB16	HP:0004482	Relative macrocephaly	-	OMIM:615777
7704	ZBTB16	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7704	ZBTB16	HP:0000823	Delayed puberty	-	OMIM:131300
7704	ZBTB16	HP:0010280	Stomatitis	HP:0040283	ORPHA:520
7704	ZBTB16	HP:0000894	Short clavicles	-	OMIM:615777
7704	ZBTB16	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7704	ZBTB16	HP:0000979	Purpura	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7704	ZBTB16	HP:0000967	Petechiae	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0000286	Epicanthus	1/7	OMIM:615777
7704	ZBTB16	HP:0000280	Coarse facial features	2/7	OMIM:615777
7704	ZBTB16	HP:0002827	Hip dislocation	3/7	OMIM:615777
7704	ZBTB16	HP:0000252	Microcephaly	-	OMIM:615777
7704	ZBTB16	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:520
7704	ZBTB16	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0002857	Genu valgum	-	OMIM:131300
7704	ZBTB16	HP:0001533	Slender build	-	OMIM:131300
7704	ZBTB16	HP:0031364	Ecchymosis	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7704	ZBTB16	HP:0007807	Optic nerve compression	-	OMIM:131300
7704	ZBTB16	HP:0012378	Fatigue	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0012368	Flat face	7/7	OMIM:615777
7704	ZBTB16	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7704	ZBTB16	HP:0000365	Hearing impairment	10/67	OMIM:131300
7704	ZBTB16	HP:0000343	Long philtrum	1/7	OMIM:615777
7704	ZBTB16	HP:0011001	Increased bone mineral density	-	OMIM:131300
7704	ZBTB16	HP:0030140	Oral cavity bleeding	HP:0040283	ORPHA:520
7704	ZBTB16	HP:0000311	Round face	2/7	OMIM:615777
7704	ZBTB16	HP:0002970	Genu varum	-	OMIM:615777
7704	ZBTB16	HP:0000303	Mandibular prognathia	-	OMIM:131300
7704	ZBTB16	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7704	ZBTB16	HP:0000470	Short neck	1/7	OMIM:615777
7704	ZBTB16	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7704	ZBTB16	HP:0001763	Pes planus	1/7	OMIM:615777
7704	ZBTB16	HP:0000421	Epistaxis	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0001840	Metatarsus adductus	-	OMIM:615777
7704	ZBTB16	HP:0000520	Proptosis	2/4	OMIM:131300
7704	ZBTB16	HP:0000520	Proptosis	7/7	OMIM:615777
7704	ZBTB16	HP:0001824	Weight loss	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0000592	Blue sclerae	2/7	OMIM:615777
7704	ZBTB16	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7704	ZBTB16	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0012514	Lower limb pain	4/4	OMIM:131300
7704	ZBTB16	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0001876	Pancytopenia	HP:0040282	ORPHA:520
7704	ZBTB16	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:520
7707	ZNF148	HP:0002465	Poor speech	1/4	OMIM:617260
7707	ZNF148	HP:0010851	EEG with burst suppression	1/4	OMIM:617260
7707	ZNF148	HP:0001274	Agenesis of corpus callosum	2/4	OMIM:617260
7707	ZNF148	HP:0001249	Intellectual disability	-	OMIM:617260
7707	ZNF148	HP:0001263	Global developmental delay	3/3	OMIM:617260
7707	ZNF148	HP:0000006	Autosomal dominant inheritance	-	OMIM:617260
7707	ZNF148	HP:0001319	Neonatal hypotonia	2/4	OMIM:617260
7707	ZNF148	HP:0000154	Wide mouth	1/4	OMIM:617260
7707	ZNF148	HP:0000110	Renal dysplasia	2/3	OMIM:617260
7707	ZNF148	HP:0000107	Renal cyst	2/3	OMIM:617260
7707	ZNF148	HP:0002002	Deep philtrum	1/4	OMIM:617260
7707	ZNF148	HP:0002007	Frontal bossing	2/4	OMIM:617260
7707	ZNF148	HP:0002093	Respiratory insufficiency	3/4	OMIM:617260
7707	ZNF148	HP:0002079	Hypoplasia of the corpus callosum	1/4	OMIM:617260
7707	ZNF148	HP:0002119	Ventriculomegaly	1/4	OMIM:617260
7707	ZNF148	HP:0002188	Delayed CNS myelination	1/4	OMIM:617260
7707	ZNF148	HP:0003577	Congenital onset	4/4	OMIM:617260
7707	ZNF148	HP:0011968	Feeding difficulties	3/3	OMIM:617260
7707	ZNF148	HP:0009765	Low hanging columella	1/4	OMIM:617260
7707	ZNF148	HP:0004322	Short stature	3/4	OMIM:617260
7707	ZNF148	HP:0031936	Delayed ability to walk	3/3	OMIM:617260
7707	ZNF148	HP:0012745	Short palpebral fissure	1/4	OMIM:617260
7707	ZNF148	HP:0000824	Decreased response to growth hormone stimulation test	1/4	OMIM:617260
7707	ZNF148	HP:0000286	Epicanthus	4/4	OMIM:617260
7707	ZNF148	HP:0000280	Coarse facial features	1/4	OMIM:617260
7707	ZNF148	HP:0000252	Microcephaly	2/4	OMIM:617260
7707	ZNF148	HP:0030048	Colpocephaly	1/4	OMIM:617260
7707	ZNF148	HP:0000358	Posteriorly rotated ears	1/4	OMIM:617260
7707	ZNF148	HP:0000369	Low-set ears	1/4	OMIM:617260
7707	ZNF148	HP:0000341	Narrow forehead	1/4	OMIM:617260
7707	ZNF148	HP:0001680	Coarctation of aorta	1/4	OMIM:617260
7707	ZNF148	HP:0000319	Smooth philtrum	1/4	OMIM:617260
7707	ZNF148	HP:0001643	Patent ductus arteriosus	1/4	OMIM:617260
7707	ZNF148	HP:0000325	Triangular face	2/4	OMIM:617260
7707	ZNF148	HP:0000307	Pointed chin	2/4	OMIM:617260
7707	ZNF148	HP:0006610	Wide intermamillary distance	1/4	OMIM:617260
7707	ZNF148	HP:0001718	Mitral stenosis	1/4	OMIM:617260
7707	ZNF148	HP:0000494	Downslanted palpebral fissures	1/4	OMIM:617260
7707	ZNF148	HP:0001763	Pes planus	1/4	OMIM:617260
7707	ZNF148	HP:0001762	Talipes equinovarus	2/4	OMIM:617260
7707	ZNF148	HP:0000506	Telecanthus	1/4	OMIM:617260
7707	ZNF148	HP:0000582	Upslanted palpebral fissure	2/4	OMIM:617260
7707	ZNF148	HP:0000540	Hypermetropia	1/4	OMIM:617260
7716	VEZF1	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
7716	VEZF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620247
7716	VEZF1	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
7716	VEZF1	HP:0011706	Second degree atrioventricular block	3/8	OMIM:620247
7716	VEZF1	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
7716	VEZF1	HP:0003596	Middle age onset	5/8	OMIM:620247
7716	VEZF1	HP:0012664	Reduced left ventricular ejection fraction	8/8	OMIM:620247
7716	VEZF1	HP:0011462	Young adult onset	3/8	OMIM:620247
7716	VEZF1	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
7716	VEZF1	HP:0003198	Myopathy	HP:0040283	ORPHA:154
7716	VEZF1	HP:0000969	Edema	HP:0040282	ORPHA:154
7716	VEZF1	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
7716	VEZF1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
7716	VEZF1	HP:0012378	Fatigue	HP:0040282	ORPHA:154
7716	VEZF1	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
7716	VEZF1	HP:0001644	Dilated cardiomyopathy	8/8	OMIM:620247
7716	VEZF1	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
7716	VEZF1	HP:0001635	Congestive heart failure	3/8	OMIM:620247
7716	VEZF1	HP:0001631	Atrial septal defect	2/8	OMIM:620247
7716	VEZF1	HP:0006682	Premature ventricular contraction	2/8	OMIM:620247
7716	VEZF1	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
7716	VEZF1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
7737	RNF113A	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001197	Abnormality of prenatal development or birth	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0410219	Hypoplasia of mandible relative to maxilla	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0007266	Cerebral dysmyelination	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001276	Hypertonia	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001260	Dysarthria	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001263	Global developmental delay	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001257	Spasticity	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0002562	Low-set nipples	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0008734	Decreased testicular size	2/2	OMIM:300953
7737	RNF113A	HP:0007381	Congenital exfoliative erythroderma	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001217	Clubbing	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001373	Joint dislocation	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000054	Micropenis	2/2	OMIM:300953
7737	RNF113A	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0007485	Absence of subcutaneous fat	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001338	Partial agenesis of the corpus callosum	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001305	Dandy-Walker malformation	2/2	OMIM:300953
7737	RNF113A	HP:0001321	Cerebellar hypoplasia	2/2	OMIM:300953
7737	RNF113A	HP:0000154	Wide mouth	2/2	OMIM:300953
7737	RNF113A	HP:0006313	Widely spaced primary teeth	2/2	OMIM:300953
7737	RNF113A	HP:0007633	Bilateral microphthalmos	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0002705	High, narrow palate	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0007587	Numerous pigmented freckles	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000133	Gonadal dysgenesis	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001423	X-linked dominant inheritance	-	OMIM:300953
7737	RNF113A	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0002719	Recurrent infections	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0002719	Recurrent infections	2/2	OMIM:300953
7737	RNF113A	HP:0002028	Chronic diarrhea	-	OMIM:300953
7737	RNF113A	HP:0002080	Intention tremor	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0002066	Gait ataxia	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0002066	Gait ataxia	2/2	OMIM:300953
7737	RNF113A	HP:0034425	Reduced hair sulfur content	2/2	OMIM:300953
7737	RNF113A	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0002136	Broad-based gait	2/2	OMIM:300953
7737	RNF113A	HP:0002187	Intellectual disability, profound	2/2	OMIM:300953
7737	RNF113A	HP:0002197	Generalized-onset seizure	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0010551	Paraplegia/paraparesis	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0003577	Congenital onset	2/2	OMIM:300953
7737	RNF113A	HP:0002217	Slow-growing hair	2/2	OMIM:300953
7737	RNF113A	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0002283	Global brain atrophy	-	OMIM:300953
7737	RNF113A	HP:0002299	Brittle hair	2/2	OMIM:300953
7737	RNF113A	HP:0002299	Brittle hair	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0002293	Alopecia of scalp	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0007034	Generalized hyperreflexia	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0008391	Dystrophic fingernails	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0008386	Aplasia/Hypoplasia of the nails	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:33364
7737	RNF113A	HP:4000007	Bronchoconstriction	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000639	Nystagmus	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000613	Photophobia	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000609	Optic nerve hypoplasia	1/2	OMIM:300953
7737	RNF113A	HP:0000608	Macular degeneration	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000601	Hypotelorism	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001903	Anemia	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000656	Ectropion	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000670	Carious teeth	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0004322	Short stature	2/2	OMIM:300953
7737	RNF113A	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0003079	Defective DNA repair after ultraviolet radiation damage	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000750	Delayed speech and language development	2/2	OMIM:300953
7737	RNF113A	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0003139	Panhypogammaglobulinemia	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000871	Panhypopituitarism	1/2	OMIM:300953
7737	RNF113A	HP:0045055	Tiger tail banding	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0045055	Tiger tail banding	2/2	OMIM:300953
7737	RNF113A	HP:0045075	Sparse eyebrow	2/2	OMIM:300953
7737	RNF113A	HP:0100275	Diffuse cerebellar atrophy	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000992	Cutaneous photosensitivity	-	OMIM:300953
7737	RNF113A	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000958	Dry skin	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000965	Cutis marmorata	-	OMIM:300953
7737	RNF113A	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000938	Osteopenia	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0008070	Sparse hair	2/2	OMIM:300953
7737	RNF113A	HP:0008064	Ichthyosis	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000286	Epicanthus	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000280	Coarse facial features	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000278	Retrognathia	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0025548	Increased mean corpuscular hemoglobin concentration	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001598	Concave nail	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000253	Progressive microcephaly	2/2	OMIM:300953
7737	RNF113A	HP:0000252	Microcephaly	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000252	Microcephaly	-	OMIM:300953
7737	RNF113A	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001511	Intrauterine growth retardation	2/2	OMIM:300953
7737	RNF113A	HP:0006538	Recurrent bronchopulmonary infections	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001618	Dysphonia	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0002942	Thoracic kyphosis	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000348	High forehead	2/2	OMIM:300953
7737	RNF113A	HP:0000320	Bird-like facies	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000303	Mandibular prognathia	2/2	OMIM:300953
7737	RNF113A	HP:0005328	Progeroid facial appearance	2/2	OMIM:300953
7737	RNF113A	HP:0000483	Astigmatism	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000486	Strabismus	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000482	Microcornea	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000411	Protruding ear	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0041068	Chronic decreased circulating IgG1	1/2	OMIM:300953
7737	RNF113A	HP:0000519	Developmental cataract	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001809	Split nail	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001808	Fragile nails	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001807	Ridged nail	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000556	Retinal dystrophy	1/2	OMIM:300953
7737	RNF113A	HP:0000565	Esotropia	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000546	Retinal degeneration	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0000545	Myopia	HP:0040283	ORPHA:33364
7737	RNF113A	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33364
7750	ZMYM2	HP:0001182	Tapered finger	1/19	OMIM:619522
7750	ZMYM2	HP:0008551	Microtia	2/19	OMIM:619522
7750	ZMYM2	HP:0001256	Intellectual disability, mild	2/19	OMIM:619522
7750	ZMYM2	HP:0001250	Seizure	2/19	OMIM:619522
7750	ZMYM2	HP:0001252	Hypotonia	3/19	OMIM:619522
7750	ZMYM2	HP:0001249	Intellectual disability	2/19	OMIM:619522
7750	ZMYM2	HP:0001263	Global developmental delay	9/19	OMIM:619522
7750	ZMYM2	HP:0000074	Ureteropelvic junction obstruction	1/19	OMIM:619522
7750	ZMYM2	HP:0000041	Chordee	1/19	OMIM:619522
7750	ZMYM2	HP:0001382	Joint hypermobility	2/19	OMIM:619522
7750	ZMYM2	HP:0000047	Hypospadias	1/19	OMIM:619522
7750	ZMYM2	HP:0000020	Urinary incontinence	1/19	OMIM:619522
7750	ZMYM2	HP:0000034	Hydrocele testis	1/8	OMIM:619522
7750	ZMYM2	HP:0000028	Cryptorchidism	1/8	OMIM:619522
7750	ZMYM2	HP:0033737	Grade III vesicoureteral reflux	1/19	OMIM:619522
7750	ZMYM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619522
7750	ZMYM2	HP:0002650	Scoliosis	1/19	OMIM:619522
7750	ZMYM2	HP:0000125	Pelvic kidney	1/19	OMIM:619522
7750	ZMYM2	HP:0000126	Hydronephrosis	1/19	OMIM:619522
7750	ZMYM2	HP:0000104	Renal agenesis	2/19	OMIM:619522
7750	ZMYM2	HP:0002714	Downturned corners of mouth	1/19	OMIM:619522
7750	ZMYM2	HP:0002015	Dysphagia	1/19	OMIM:619522
7750	ZMYM2	HP:0010490	Abnormality of the palmar creases	2/19	OMIM:619522
7750	ZMYM2	HP:0002144	Tethered cord	1/19	OMIM:619522
7750	ZMYM2	HP:0002267	Exaggerated startle response	1/19	OMIM:619522
7750	ZMYM2	HP:0003593	Infantile onset	-	OMIM:619522
7750	ZMYM2	HP:0007018	Attention deficit hyperactivity disorder	3/19	OMIM:619522
7750	ZMYM2	HP:0011968	Feeding difficulties	2/19	OMIM:619522
7750	ZMYM2	HP:0008499	High hypermetropia	1/19	OMIM:619522
7750	ZMYM2	HP:0009778	Short thumb	1/19	OMIM:619522
7750	ZMYM2	HP:0004209	Clinodactyly of the 5th finger	2/19	OMIM:619522
7750	ZMYM2	HP:0000670	Carious teeth	1/19	OMIM:619522
7750	ZMYM2	HP:0004322	Short stature	1/19	OMIM:619522
7750	ZMYM2	HP:0000805	Enuresis	1/19	OMIM:619522
7750	ZMYM2	HP:0031923	Hematocolpos	1/19	OMIM:619522
7750	ZMYM2	HP:0000733	Motor stereotypy	2/19	OMIM:619522
7750	ZMYM2	HP:0000750	Delayed speech and language development	4/19	OMIM:619522
7750	ZMYM2	HP:0000729	Autistic behavior	5/19	OMIM:619522
7750	ZMYM2	HP:0000709	Psychosis	1/19	OMIM:619522
7750	ZMYM2	HP:0003196	Short nose	1/19	OMIM:619522
7750	ZMYM2	HP:0003189	Long nose	1/19	OMIM:619522
7750	ZMYM2	HP:0009237	Short 5th finger	1/19	OMIM:619522
7750	ZMYM2	HP:0000954	Single transverse palmar crease	1/19	OMIM:619522
7750	ZMYM2	HP:0045025	Narrow palpebral fissure	1/19	OMIM:619522
7750	ZMYM2	HP:0009381	Short finger	2/19	OMIM:619522
7750	ZMYM2	HP:0000286	Epicanthus	6/19	OMIM:619522
7750	ZMYM2	HP:0012227	Urethral stricture	1/19	OMIM:619522
7750	ZMYM2	HP:0000252	Microcephaly	4/19	OMIM:619522
7750	ZMYM2	HP:0000218	High palate	1/19	OMIM:619522
7750	ZMYM2	HP:0030011	Imperforate hymen	1/19	OMIM:619522
7750	ZMYM2	HP:0002870	Obstructive sleep apnea	1/19	OMIM:619522
7750	ZMYM2	HP:0001511	Intrauterine growth retardation	1/19	OMIM:619522
7750	ZMYM2	HP:0001510	Growth delay	1/19	OMIM:619522
7750	ZMYM2	HP:0000385	Small earlobe	1/19	OMIM:619522
7750	ZMYM2	HP:0000358	Posteriorly rotated ears	1/19	OMIM:619522
7750	ZMYM2	HP:0000369	Low-set ears	2/19	OMIM:619522
7750	ZMYM2	HP:0000316	Hypertelorism	3/19	OMIM:619522
7750	ZMYM2	HP:0001643	Patent ductus arteriosus	2/19	OMIM:619522
7750	ZMYM2	HP:0000325	Triangular face	1/19	OMIM:619522
7750	ZMYM2	HP:0001629	Ventricular septal defect	1/19	OMIM:619522
7750	ZMYM2	HP:0001631	Atrial septal defect	4/19	OMIM:619522
7750	ZMYM2	HP:0012471	Thick vermilion border	1/19	OMIM:619522
7750	ZMYM2	HP:0000494	Downslanted palpebral fissures	1/19	OMIM:619522
7750	ZMYM2	HP:0000463	Anteverted nares	1/19	OMIM:619522
7750	ZMYM2	HP:0000455	Broad nasal tip	1/19	OMIM:619522
7750	ZMYM2	HP:0000475	Broad neck	1/19	OMIM:619522
7750	ZMYM2	HP:0001773	Short foot	1/19	OMIM:619522
7750	ZMYM2	HP:0000414	Bulbous nose	1/19	OMIM:619522
7750	ZMYM2	HP:0000431	Wide nasal bridge	1/19	OMIM:619522
7750	ZMYM2	HP:0001837	Broad toe	1/19	OMIM:619522
7750	ZMYM2	HP:0000506	Telecanthus	1/19	OMIM:619522
7750	ZMYM2	HP:0001800	Hypoplastic toenails	1/19	OMIM:619522
7750	ZMYM2	HP:0000540	Hypermetropia	1/19	OMIM:619522
7780	SLC30A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:608118
7780	SLC30A2	HP:0031831	Decreased serum zinc	2/2	OMIM:608118
7780	SLC30A2	HP:0000964	Eczematoid dermatitis	-	OMIM:608118
7780	SLC30A2	HP:0001596	Alopecia	2/2	OMIM:608118
7783	ZP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618353
7783	ZP2	HP:0008222	Female infertility	-	OMIM:618353
7783	ZP2	HP:0020157	Thin zona pellucida	-	OMIM:618353
7784	ZP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:617712
7784	ZP3	HP:0008222	Female infertility	6/6	OMIM:617712
7784	ZP3	HP:0011462	Young adult onset	6/6	OMIM:617712
7798	LUZP1	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0002465	Poor speech	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0001107	Ocular albinism	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0008551	Microtia	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0001250	Seizure	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0001252	Hypotonia	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0002591	Polyphagia	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000055	Abnormal female external genitalia morphology	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000047	Hypospadias	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0001344	Absent speech	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0002650	Scoliosis	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000160	Narrow mouth	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0000135	Hypogonadism	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000107	Renal cyst	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0002019	Constipation	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0002015	Dysphagia	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0002242	Abnormal intestine morphology	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0001009	Telangiectasia	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0008499	High hypermetropia	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000639	Nystagmus	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0004322	Short stature	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0004378	Abnormality of the anus	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0012733	Macule	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0000717	Autism	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0003198	Myopathy	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000902	Rib fusion	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000878	11 pairs of ribs	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000892	Bifid ribs	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000286	Epicanthus	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0002808	Kyphosis	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000252	Microcephaly	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0000248	Brachycephaly	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0001513	Obesity	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000343	Long philtrum	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000307	Pointed chin	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0001734	Annular pancreas	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0000486	Strabismus	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0000490	Deeply set eye	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0000464	Abnormality of the neck	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0001773	Short foot	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0001743	Abnormality of the spleen	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0000518	Cataract	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000505	Visual impairment	HP:0040283	ORPHA:1606
7798	LUZP1	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1606
7798	LUZP1	HP:0011228	Horizontal eyebrow	HP:0040281	ORPHA:1606
7798	LUZP1	HP:0000534	Abnormal eyebrow morphology	HP:0040282	ORPHA:1606
7802	DNALI1	HP:0034947	Altered location of the longitudinal column in the fibrous sheath	1/1	OMIM:620354
7802	DNALI1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620354
7802	DNALI1	HP:0034011	Reduced progressive sperm motility	1/1	OMIM:620354
7802	DNALI1	HP:0011462	Young adult onset	1/1	OMIM:620354
7802	DNALI1	HP:0003251	Male infertility	1/1	OMIM:620354
7802	DNALI1	HP:0012207	Reduced sperm motility	1/1	OMIM:620354
7809	BSND	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:89938
7809	BSND	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040281	ORPHA:89938
7809	BSND	HP:0001290	Generalized hypotonia	-	OMIM:602522
7809	BSND	HP:0001270	Motor delay	-	OMIM:602522
7809	BSND	HP:0001270	Motor delay	HP:0040282	ORPHA:89938
7809	BSND	HP:0001252	Hypotonia	-	OMIM:602522
7809	BSND	HP:0001252	Hypotonia	HP:0040282	ORPHA:89938
7809	BSND	HP:0001249	Intellectual disability	-	OMIM:602522
7809	BSND	HP:0001265	Hyporeflexia	-	OMIM:602522
7809	BSND	HP:0000083	Renal insufficiency	-	OMIM:602522
7809	BSND	HP:0025335	Delayed ability to stand	HP:0040282	ORPHA:89938
7809	BSND	HP:0001324	Muscle weakness	HP:0040282	ORPHA:89938
7809	BSND	HP:0000007	Autosomal recessive inheritance	-	OMIM:602522
7809	BSND	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:89938
7809	BSND	HP:0000127	Renal salt wasting	HP:0040281	ORPHA:89938
7809	BSND	HP:0000127	Renal salt wasting	-	OMIM:602522
7809	BSND	HP:0000103	Polyuria	1/1	OMIM:602522
7809	BSND	HP:0002013	Vomiting	HP:0040283	ORPHA:89938
7809	BSND	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:89938
7809	BSND	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:89938
7809	BSND	HP:0004737	Global glomerulosclerosis	-	OMIM:602522
7809	BSND	HP:0004727	Impaired renal concentrating ability	HP:0040281	ORPHA:89938
7809	BSND	HP:0004727	Impaired renal concentrating ability	1/1	OMIM:602522
7809	BSND	HP:0003577	Congenital onset	1/1	OMIM:602522
7809	BSND	HP:0003527	Hyperprostaglandinuria	HP:0040282	ORPHA:89938
7809	BSND	HP:0002312	Clumsiness	HP:0040283	ORPHA:89938
7809	BSND	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	-	OMIM:602522
7809	BSND	HP:0005576	Tubulointerstitial fibrosis	-	OMIM:602522
7809	BSND	HP:0005565	Reduced renal corticomedullary differentiation	-	OMIM:602522
7809	BSND	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:89938
7809	BSND	HP:0012605	Hypernatriuria	-	OMIM:602522
7809	BSND	HP:0001944	Dehydration	HP:0040283	ORPHA:89938
7809	BSND	HP:0001960	Hypokalemic metabolic alkalosis	HP:0040281	ORPHA:89938
7809	BSND	HP:0001959	Polydipsia	1/1	OMIM:602522
7809	BSND	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:89938
7809	BSND	HP:0003081	Increased urinary potassium	HP:0040282	ORPHA:89938
7809	BSND	HP:0003081	Increased urinary potassium	-	OMIM:602522
7809	BSND	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:89938
7809	BSND	HP:0000712	Emotional lability	HP:0040283	ORPHA:89938
7809	BSND	HP:0003113	Hypochloremia	HP:0040282	ORPHA:89938
7809	BSND	HP:0003113	Hypochloremia	-	OMIM:602522
7809	BSND	HP:0000859	Increased circulating aldosterone concentration	HP:0040281	ORPHA:89938
7809	BSND	HP:0000859	Increased circulating aldosterone concentration	-	OMIM:602522
7809	BSND	HP:0000848	Increased circulating renin concentration	HP:0040281	ORPHA:89938
7809	BSND	HP:0000841	Hyperactive renin-angiotensin system	HP:0040281	ORPHA:89938
7809	BSND	HP:0000822	Hypertension	-	ORPHA:89938
7809	BSND	HP:0000969	Edema	-	OMIM:602522
7809	BSND	HP:0012213	Decreased glomerular filtration rate	-	OMIM:602522
7809	BSND	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:89938
7809	BSND	HP:0001561	Polyhydramnios	-	OMIM:602522
7809	BSND	HP:0001563	Fetal polyuria	-	OMIM:602522
7809	BSND	HP:0001525	Severe failure to thrive	HP:0040283	ORPHA:89938
7809	BSND	HP:0001508	Failure to thrive	-	OMIM:602522
7809	BSND	HP:0001508	Failure to thrive	HP:0040282	ORPHA:89938
7809	BSND	HP:0001518	Small for gestational age	HP:0040282	ORPHA:89938
7809	BSND	HP:0002917	Hypomagnesemia	HP:0040282	ORPHA:89938
7809	BSND	HP:0002914	Hyperchloriduria	-	OMIM:602522
7809	BSND	HP:0002902	Hyponatremia	HP:0040282	ORPHA:89938
7809	BSND	HP:0002902	Hyponatremia	-	OMIM:602522
7809	BSND	HP:0002900	Hypokalemia	HP:0040281	ORPHA:89938
7809	BSND	HP:0002900	Hypokalemia	1/1	OMIM:602522
7809	BSND	HP:0000325	Triangular face	HP:0040284	ORPHA:89938
7809	BSND	HP:0001622	Premature birth	HP:0040282	ORPHA:89938
7809	BSND	HP:0001622	Premature birth	-	OMIM:602522
7809	BSND	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:602522
7809	BSND	HP:0001789	Hydrops fetalis	-	OMIM:602522
7809	BSND	HP:0000411	Protruding ear	HP:0040284	ORPHA:89938
7827	NPHS2	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
7827	NPHS2	HP:0003774	Stage 5 chronic kidney disease	7/9	OMIM:600995
7827	NPHS2	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
7827	NPHS2	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
7827	NPHS2	HP:0000097	Focal segmental glomerulosclerosis	-	OMIM:600995
7827	NPHS2	HP:0000093	Proteinuria	9/9	OMIM:600995
7827	NPHS2	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
7827	NPHS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:600995
7827	NPHS2	HP:0000100	Nephrotic syndrome	9/9	OMIM:600995
7827	NPHS2	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
7827	NPHS2	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
7827	NPHS2	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
7827	NPHS2	HP:0003678	Rapidly progressive	-	OMIM:600995
7827	NPHS2	HP:0002315	Headache	HP:0040283	ORPHA:656
7827	NPHS2	HP:0003621	Juvenile onset	2/9	OMIM:600995
7827	NPHS2	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
7827	NPHS2	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
7827	NPHS2	HP:0001945	Fever	HP:0040283	ORPHA:656
7827	NPHS2	HP:0003077	Hyperlipidemia	-	OMIM:600995
7827	NPHS2	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
7827	NPHS2	HP:0003073	Hypoalbuminemia	-	OMIM:600995
7827	NPHS2	HP:0000737	Irritability	HP:0040283	ORPHA:656
7827	NPHS2	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
7827	NPHS2	HP:0011463	Childhood onset	7/9	OMIM:600995
7827	NPHS2	HP:0000969	Edema	HP:0040281	ORPHA:656
7827	NPHS2	HP:0000969	Edema	-	OMIM:600995
7827	NPHS2	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
7827	NPHS2	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
7837	PXDN	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
7837	PXDN	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
7837	PXDN	HP:0000007	Autosomal recessive inheritance	-	OMIM:269400
7837	PXDN	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
7837	PXDN	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
7837	PXDN	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
7837	PXDN	HP:0007663	Reduced visual acuity	11/11	OMIM:269400
7837	PXDN	HP:0003577	Congenital onset	-	OMIM:269400
7837	PXDN	HP:0003623	Neonatal onset	-	OMIM:269400
7837	PXDN	HP:0003621	Juvenile onset	8/19	OMIM:180100
7837	PXDN	HP:0000647	Sclerocornea	-	OMIM:269400
7837	PXDN	HP:0000612	Iris coloboma	0/7	OMIM:269400
7837	PXDN	HP:0000662	Nyctalopia	26/28	OMIM:180100
7837	PXDN	HP:0011483	Anterior synechiae of the anterior chamber	3/7	OMIM:269400
7837	PXDN	HP:0011463	Childhood onset	3/19	OMIM:180100
7837	PXDN	HP:0011462	Young adult onset	8/19	OMIM:180100
7837	PXDN	HP:0007700	Ocular anterior segment dysgenesis	-	OMIM:269400
7837	PXDN	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
7837	PXDN	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
7837	PXDN	HP:0007957	Corneal opacity	11/11	OMIM:269400
7837	PXDN	HP:0007906	Ocular hypertension	3/7	OMIM:269400
7837	PXDN	HP:0000482	Microcornea	8/11	OMIM:269400
7837	PXDN	HP:0000518	Cataract	7/7	OMIM:269400
7837	PXDN	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
7837	PXDN	HP:0000575	Scotoma	5/18	OMIM:180100
7837	PXDN	HP:0000557	Buphthalmos	3/11	OMIM:269400
7837	PXDN	HP:0000568	Microphthalmia	0/7	OMIM:269400
7837	PXDN	HP:0000543	Optic disc pallor	1/1	OMIM:180100
7837	PXDN	HP:0000545	Myopia	-	OMIM:180100
7840	ALMS1	HP:0002480	Hepatic encephalopathy	HP:0040284	ORPHA:64
7840	ALMS1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
7840	ALMS1	HP:0001133	Constriction of peripheral visual field	-	OMIM:203800
7840	ALMS1	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:64
7840	ALMS1	HP:0001123	Visual field defect	HP:0040283	ORPHA:64
7840	ALMS1	HP:0008625	Severe sensorineural hearing impairment	HP:0040283	ORPHA:64
7840	ALMS1	HP:0009894	Thickened ears	HP:0040283	ORPHA:64
7840	ALMS1	HP:0010863	Receptive language delay	HP:0040282	ORPHA:64
7840	ALMS1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
7840	ALMS1	HP:0001293	Cranial nerve compression	-	OMIM:131300
7840	ALMS1	HP:0001252	Hypotonia	2/7	OMIM:615777
7840	ALMS1	HP:0001251	Ataxia	HP:0040284	ORPHA:64
7840	ALMS1	HP:0001249	Intellectual disability	5/7	OMIM:615777
7840	ALMS1	HP:0002591	Polyphagia	HP:0040282	ORPHA:64
7840	ALMS1	HP:0001263	Global developmental delay	-	OMIM:203800
7840	ALMS1	HP:0001263	Global developmental delay	-	OMIM:615777
7840	ALMS1	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:64
7840	ALMS1	HP:0002515	Waddling gait	54/102	OMIM:131300
7840	ALMS1	HP:0025383	Dorsocervical fat pad	HP:0040282	ORPHA:64
7840	ALMS1	HP:0000083	Renal insufficiency	-	OMIM:203800
7840	ALMS1	HP:0000099	Glomerulonephritis	HP:0040283	ORPHA:64
7840	ALMS1	HP:0001397	Hepatic steatosis	-	OMIM:203800
7840	ALMS1	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:64
7840	ALMS1	HP:0001399	Hepatic failure	HP:0040283	ORPHA:64
7840	ALMS1	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:64
7840	ALMS1	HP:0001394	Cirrhosis	HP:0040283	ORPHA:64
7840	ALMS1	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:64
7840	ALMS1	HP:0025336	Delayed ability to sit	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000054	Micropenis	HP:0040283	ORPHA:64
7840	ALMS1	HP:0025335	Delayed ability to stand	HP:0040283	ORPHA:64
7840	ALMS1	HP:0001382	Joint hypermobility	-	OMIM:615777
7840	ALMS1	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000016	Urinary retention	HP:0040283	ORPHA:64
7840	ALMS1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
7840	ALMS1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
7840	ALMS1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:64
7840	ALMS1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
7840	ALMS1	HP:0001324	Muscle weakness	40/96	OMIM:131300
7840	ALMS1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000012	Urinary urgency	HP:0040283	ORPHA:64
7840	ALMS1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
7840	ALMS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:203800
7840	ALMS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
7840	ALMS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
7840	ALMS1	HP:0000009	Functional abnormality of the bladder	HP:0040282	ORPHA:64
7840	ALMS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
7840	ALMS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
7840	ALMS1	HP:0002650	Scoliosis	12/14	OMIM:131300
7840	ALMS1	HP:0002650	Scoliosis	-	OMIM:203800
7840	ALMS1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
7840	ALMS1	HP:0002621	Atherosclerosis	-	OMIM:203800
7840	ALMS1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
7840	ALMS1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
7840	ALMS1	HP:0025496	Abnormal coronary artery physiology	HP:0040283	ORPHA:64
7840	ALMS1	HP:0025488	Detrusor sphincter dyssynergia	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
7840	ALMS1	HP:0000164	Abnormality of the dentition	-	OMIM:203800
7840	ALMS1	HP:0000175	Cleft palate	2/7	OMIM:615777
7840	ALMS1	HP:0012115	Hepatitis	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:64
7840	ALMS1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
7840	ALMS1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
7840	ALMS1	HP:0410019	Epigastric pain	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000123	Nephritis	-	OMIM:203800
7840	ALMS1	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:64
7840	ALMS1	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:64
7840	ALMS1	HP:0001409	Portal hypertension	HP:0040283	ORPHA:64
7840	ALMS1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:64
7840	ALMS1	HP:0005987	Multinodular goiter	-	OMIM:203800
7840	ALMS1	HP:0003326	Myalgia	HP:0040284	ORPHA:64
7840	ALMS1	HP:0005978	Type II diabetes mellitus	HP:0040282	ORPHA:64
7840	ALMS1	HP:0004626	Lumbar scoliosis	HP:0040282	ORPHA:64
7840	ALMS1	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:64
7840	ALMS1	HP:0002098	Respiratory distress	HP:0040283	ORPHA:64
7840	ALMS1	HP:0002099	Asthma	-	OMIM:203800
7840	ALMS1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:64
7840	ALMS1	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:64
7840	ALMS1	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040282	ORPHA:64
7840	ALMS1	HP:0002040	Esophageal varix	HP:0040283	ORPHA:64
7840	ALMS1	HP:0003388	Easy fatigability	36/76	OMIM:131300
7840	ALMS1	HP:0100518	Dysuria	HP:0040283	ORPHA:64
7840	ALMS1	HP:0010442	Polydactyly	0/1	OMIM:203800
7840	ALMS1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
7840	ALMS1	HP:0010465	Precocious puberty in females	HP:0040284	ORPHA:64
7840	ALMS1	HP:0003474	Somatic sensory dysfunction	HP:0040282	ORPHA:64
7840	ALMS1	HP:0002155	Hypertriglyceridemia	-	OMIM:203800
7840	ALMS1	HP:0002155	Hypertriglyceridemia	HP:0040281	ORPHA:64
7840	ALMS1	HP:0002149	Hyperuricemia	-	OMIM:203800
7840	ALMS1	HP:0003577	Congenital onset	1/1	OMIM:203800
7840	ALMS1	HP:0002240	Hepatomegaly	-	OMIM:203800
7840	ALMS1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:64
7840	ALMS1	HP:0002213	Fine hair	HP:0040283	ORPHA:64
7840	ALMS1	HP:0200120	Chronic active hepatitis	-	OMIM:203800
7840	ALMS1	HP:0002292	Frontal balding	HP:0040283	ORPHA:64
7840	ALMS1	HP:0008373	Puberty and gonadal disorders	HP:0040282	ORPHA:64
7840	ALMS1	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:64
7840	ALMS1	HP:0003510	Severe short stature	7/7	OMIM:615777
7840	ALMS1	HP:0002360	Sleep abnormality	HP:0040284	ORPHA:64
7840	ALMS1	HP:0001007	Hirsutism	HP:0040283	ORPHA:64
7840	ALMS1	HP:0002315	Headache	-	OMIM:131300
7840	ALMS1	HP:0004976	Knee dislocation	6/7	OMIM:615777
7840	ALMS1	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:64
7840	ALMS1	HP:0009803	Short phalanx of finger	-	OMIM:615777
7840	ALMS1	HP:0010790	Hypoplasia of the Leydig cells	HP:0040283	ORPHA:64
7840	ALMS1	HP:0009763	Limb pain	63/92	OMIM:131300
7840	ALMS1	HP:0002311	Incoordination	HP:0040283	ORPHA:64
7840	ALMS1	HP:0003621	Juvenile onset	8/19	OMIM:180100
7840	ALMS1	HP:0003621	Juvenile onset	-	OMIM:131300
7840	ALMS1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
7840	ALMS1	HP:0031865	Abnormal liver physiology	HP:0040282	ORPHA:64
7840	ALMS1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
7840	ALMS1	HP:0001970	Tubulointerstitial nephritis	-	OMIM:203800
7840	ALMS1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:64
7840	ALMS1	HP:0000639	Nystagmus	HP:0040281	ORPHA:64
7840	ALMS1	HP:0000639	Nystagmus	1/1	OMIM:203800
7840	ALMS1	HP:6001056	Out-toeing	-	OMIM:131300
7840	ALMS1	HP:0000651	Diplopia	-	OMIM:131300
7840	ALMS1	HP:0000618	Blindness	-	OMIM:203800
7840	ALMS1	HP:0000618	Blindness	HP:0040281	ORPHA:64
7840	ALMS1	HP:0000613	Photophobia	1/1	OMIM:203800
7840	ALMS1	HP:0000613	Photophobia	HP:0040282	ORPHA:64
7840	ALMS1	HP:0001956	Truncal obesity	HP:0040282	ORPHA:64
7840	ALMS1	HP:0001956	Truncal obesity	2/7	OMIM:615777
7840	ALMS1	HP:0001956	Truncal obesity	-	OMIM:203800
7840	ALMS1	HP:0001903	Anemia	HP:0040283	OMIM:131300
7840	ALMS1	HP:0010049	Short metacarpal	-	OMIM:615777
7840	ALMS1	HP:0000678	Dental crowding	-	OMIM:615777
7840	ALMS1	HP:0000662	Nyctalopia	26/28	OMIM:180100
7840	ALMS1	HP:0000670	Carious teeth	-	OMIM:131300
7840	ALMS1	HP:0011304	Broad thumb	2/7	OMIM:615777
7840	ALMS1	HP:0000668	Hypodontia	-	OMIM:615777
7840	ALMS1	HP:0000664	Synophrys	-	OMIM:615777
7840	ALMS1	HP:0004322	Short stature	HP:0040281	ORPHA:64
7840	ALMS1	HP:0004322	Short stature	1/1	OMIM:203800
7840	ALMS1	HP:0005616	Accelerated skeletal maturation	HP:0040283	ORPHA:64
7840	ALMS1	HP:0005616	Accelerated skeletal maturation	-	OMIM:203800
7840	ALMS1	HP:0003077	Hyperlipidemia	HP:0040281	ORPHA:64
7840	ALMS1	HP:0003074	Hyperglycemia	1/1	OMIM:203800
7840	ALMS1	HP:0004396	Poor appetite	-	OMIM:131300
7840	ALMS1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
7840	ALMS1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
7840	ALMS1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
7840	ALMS1	HP:0003026	Short long bone	7/7	OMIM:615777
7840	ALMS1	HP:0031936	Delayed ability to walk	HP:0040283	ORPHA:64
7840	ALMS1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
7840	ALMS1	HP:0000771	Gynecomastia	-	OMIM:203800
7840	ALMS1	HP:0000771	Gynecomastia	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
7840	ALMS1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
7840	ALMS1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
7840	ALMS1	HP:0000750	Delayed speech and language development	-	OMIM:615777
7840	ALMS1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:64
7840	ALMS1	HP:0012786	Recurrent cystitis	HP:0040283	ORPHA:64
7840	ALMS1	HP:0011463	Childhood onset	3/19	OMIM:180100
7840	ALMS1	HP:0011462	Young adult onset	8/19	OMIM:180100
7840	ALMS1	HP:0011461	Fetal onset	7/7	OMIM:615777
7840	ALMS1	HP:0000798	Oligozoospermia	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000774	Narrow chest	2/7	OMIM:615777
7840	ALMS1	HP:0004438	Hyperostosis frontalis interna	HP:0040282	ORPHA:64
7840	ALMS1	HP:0004438	Hyperostosis frontalis interna	-	OMIM:203800
7840	ALMS1	HP:0000926	Platyspondyly	1/7	OMIM:615777
7840	ALMS1	HP:0003180	Flat acetabular roof	-	OMIM:615777
7840	ALMS1	HP:0004482	Relative macrocephaly	-	OMIM:615777
7840	ALMS1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
7840	ALMS1	HP:0004469	Chronic bronchitis	HP:0040282	ORPHA:64
7840	ALMS1	HP:0000873	Diabetes insipidus	-	OMIM:203800
7840	ALMS1	HP:0012860	Testicular fibrosis	HP:0040283	ORPHA:64
7840	ALMS1	HP:0011510	Drusen	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000858	Irregular menstruation	-	OMIM:203800
7840	ALMS1	HP:0000855	Insulin resistance	HP:0040281	ORPHA:64
7840	ALMS1	HP:0000832	Primary hypothyroidism	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000831	Insulin-resistant diabetes mellitus	-	OMIM:203800
7840	ALMS1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:64
7840	ALMS1	HP:0000842	Hyperinsulinemia	-	OMIM:203800
7840	ALMS1	HP:0000815	Hypergonadotropic hypogonadism	HP:0040282	ORPHA:64
7840	ALMS1	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:203800
7840	ALMS1	HP:0000822	Hypertension	-	OMIM:203800
7840	ALMS1	HP:0000822	Hypertension	HP:0040282	ORPHA:64
7840	ALMS1	HP:0000821	Hypothyroidism	-	OMIM:203800
7840	ALMS1	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:203800
7840	ALMS1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000823	Delayed puberty	-	OMIM:131300
7840	ALMS1	HP:0000894	Short clavicles	-	OMIM:615777
7840	ALMS1	HP:0003233	Decreased HDL cholesterol concentration	-	OMIM:203800
7840	ALMS1	HP:0040217	Elevated hemoglobin A1c	1/1	OMIM:203800
7840	ALMS1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
7840	ALMS1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
7840	ALMS1	HP:0000956	Acanthosis nigricans	HP:0040282	ORPHA:64
7840	ALMS1	HP:0000956	Acanthosis nigricans	-	OMIM:203800
7840	ALMS1	HP:0009381	Short finger	HP:0040283	ORPHA:64
7840	ALMS1	HP:0007722	Retinal pigment epithelial atrophy	HP:0040282	ORPHA:64
7840	ALMS1	HP:0000286	Epicanthus	1/7	OMIM:615777
7840	ALMS1	HP:0000280	Coarse facial features	2/7	OMIM:615777
7840	ALMS1	HP:0001596	Alopecia	-	OMIM:203800
7840	ALMS1	HP:0007787	Posterior subcapsular cataract	HP:0040283	ORPHA:64
7840	ALMS1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
7840	ALMS1	HP:0002827	Hip dislocation	3/7	OMIM:615777
7840	ALMS1	HP:0002808	Kyphosis	-	OMIM:203800
7840	ALMS1	HP:0002808	Kyphosis	HP:0040282	ORPHA:64
7840	ALMS1	HP:0000252	Microcephaly	-	OMIM:615777
7840	ALMS1	HP:0000230	Gingivitis	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000230	Gingivitis	-	OMIM:203800
7840	ALMS1	HP:0002857	Genu valgum	-	OMIM:131300
7840	ALMS1	HP:0001533	Slender build	-	OMIM:131300
7840	ALMS1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
7840	ALMS1	HP:0001513	Obesity	1/1	OMIM:203800
7840	ALMS1	HP:0001513	Obesity	HP:0040281	ORPHA:64
7840	ALMS1	HP:0006510	Chronic pulmonary obstruction	HP:0040283	ORPHA:64
7840	ALMS1	HP:0007843	Attenuation of retinal blood vessels	1/1	OMIM:203800
7840	ALMS1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
7840	ALMS1	HP:0007807	Optic nerve compression	-	OMIM:131300
7840	ALMS1	HP:0011073	Abnormality of dental color	HP:0040283	ORPHA:64
7840	ALMS1	HP:0031507	Decreased circulating T4 concentration	HP:0040283	ORPHA:64
7840	ALMS1	HP:0012368	Flat face	7/7	OMIM:615777
7840	ALMS1	HP:0000388	Otitis media	HP:0040281	ORPHA:64
7840	ALMS1	HP:0000388	Otitis media	-	OMIM:203800
7840	ALMS1	HP:0006532	Recurrent pneumonia	-	OMIM:203800
7840	ALMS1	HP:0006532	Recurrent pneumonia	HP:0040282	ORPHA:64
7840	ALMS1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
7840	ALMS1	HP:0002943	Thoracic scoliosis	HP:0040282	ORPHA:64
7840	ALMS1	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:203800
7840	ALMS1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:64
7840	ALMS1	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000365	Hearing impairment	10/67	OMIM:131300
7840	ALMS1	HP:0000343	Long philtrum	1/7	OMIM:615777
7840	ALMS1	HP:0011001	Increased bone mineral density	-	OMIM:131300
7840	ALMS1	HP:0001685	Myocardial fibrosis	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000311	Round face	2/7	OMIM:615777
7840	ALMS1	HP:0000311	Round face	HP:0040283	ORPHA:64
7840	ALMS1	HP:0001644	Dilated cardiomyopathy	-	OMIM:203800
7840	ALMS1	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:64
7840	ALMS1	HP:0002970	Genu varum	-	OMIM:615777
7840	ALMS1	HP:0001635	Congestive heart failure	-	OMIM:203800
7840	ALMS1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000303	Mandibular prognathia	-	OMIM:131300
7840	ALMS1	HP:0011147	Typical absence seizure	HP:0040284	ORPHA:64
7840	ALMS1	HP:0000408	Progressive sensorineural hearing impairment	HP:0040281	ORPHA:64
7840	ALMS1	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:203800
7840	ALMS1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:203800
7840	ALMS1	HP:0001733	Pancreatitis	HP:0040284	ORPHA:64
7840	ALMS1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
7840	ALMS1	HP:0000490	Deeply set eye	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000470	Short neck	1/7	OMIM:615777
7840	ALMS1	HP:0011108	Recurrent sinusitis	HP:0040282	ORPHA:64
7840	ALMS1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
7840	ALMS1	HP:0001763	Pes planus	-	OMIM:203800
7840	ALMS1	HP:0001763	Pes planus	HP:0040282	ORPHA:64
7840	ALMS1	HP:0001763	Pes planus	1/7	OMIM:615777
7840	ALMS1	HP:0001751	Abnormal vestibular function	HP:0040283	ORPHA:64
7840	ALMS1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000518	Cataract	HP:0040282	ORPHA:64
7840	ALMS1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
7840	ALMS1	HP:0001840	Metatarsus adductus	-	OMIM:615777
7840	ALMS1	HP:0000520	Proptosis	2/4	OMIM:131300
7840	ALMS1	HP:0000520	Proptosis	7/7	OMIM:615777
7840	ALMS1	HP:0000523	Subcapsular cataract	-	OMIM:203800
7840	ALMS1	HP:0000505	Visual impairment	1/1	OMIM:203800
7840	ALMS1	HP:0001831	Short toe	HP:0040283	ORPHA:64
7840	ALMS1	HP:0030348	Increased circulating androgen concentration	HP:0040283	ORPHA:64
7840	ALMS1	HP:0000580	Pigmentary retinopathy	-	OMIM:203800
7840	ALMS1	HP:0012569	Delayed menarche	HP:0040284	ORPHA:64
7840	ALMS1	HP:0000575	Scotoma	5/18	OMIM:180100
7840	ALMS1	HP:0000592	Blue sclerae	2/7	OMIM:615777
7840	ALMS1	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:64
7840	ALMS1	HP:0000572	Visual loss	-	OMIM:203800
7840	ALMS1	HP:0000572	Visual loss	HP:0040281	ORPHA:64
7840	ALMS1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
7840	ALMS1	HP:0012514	Lower limb pain	4/4	OMIM:131300
7840	ALMS1	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:64
7840	ALMS1	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:203800
7840	ALMS1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:64
7840	ALMS1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
7840	ALMS1	HP:0000545	Myopia	-	OMIM:180100
7841	MOGS	HP:0001188	Hand clenching	11/11	OMIM:606056
7841	MOGS	HP:6000576	Reduced tissue mannosyl-oligosaccharide glucosidase activity	1/1	OMIM:606056
7841	MOGS	HP:0010851	EEG with burst suppression	1/1	OMIM:606056
7841	MOGS	HP:0001290	Generalized hypotonia	1/1	OMIM:606056
7841	MOGS	HP:0001250	Seizure	HP:0040282	ORPHA:79330
7841	MOGS	HP:0001250	Seizure	1/1	OMIM:606056
7841	MOGS	HP:0001252	Hypotonia	-	OMIM:606056
7841	MOGS	HP:0001263	Global developmental delay	-	OMIM:606056
7841	MOGS	HP:0007430	Generalized edema	1/1	OMIM:606056
7841	MOGS	HP:0007430	Generalized edema	HP:0040283	ORPHA:79330
7841	MOGS	HP:0000034	Hydrocele testis	HP:0040283	ORPHA:79330
7841	MOGS	HP:0008872	Feeding difficulties in infancy	-	OMIM:606056
7841	MOGS	HP:0001332	Dystonia	HP:0040283	ORPHA:79330
7841	MOGS	HP:0000007	Autosomal recessive inheritance	-	OMIM:606056
7841	MOGS	HP:0008947	Floppy infant	HP:0040282	ORPHA:79330
7841	MOGS	HP:0002791	Hypoventilation	-	OMIM:606056
7841	MOGS	HP:0002791	Hypoventilation	HP:0040283	ORPHA:79330
7841	MOGS	HP:0002757	Recurrent fractures	-	OMIM:606056
7841	MOGS	HP:0031218	Inappropriate antidiuretic hormone secretion	HP:0040283	ORPHA:79330
7841	MOGS	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:79330
7841	MOGS	HP:0002720	Decreased circulating IgA concentration	1/1	OMIM:606056
7841	MOGS	HP:0002720	Decreased circulating IgA concentration	HP:0040282	ORPHA:79330
7841	MOGS	HP:0002098	Respiratory distress	HP:0040283	ORPHA:79330
7841	MOGS	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:79330
7841	MOGS	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:606056
7841	MOGS	HP:0002059	Cerebral atrophy	-	OMIM:606056
7841	MOGS	HP:0100598	Pulmonary edema	HP:0040283	ORPHA:79330
7841	MOGS	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:79330
7841	MOGS	HP:0002104	Apnea	HP:0040283	ORPHA:79330
7841	MOGS	HP:0010557	Overlapping fingers	1/1	OMIM:606056
7841	MOGS	HP:0010557	Overlapping fingers	HP:0040283	ORPHA:79330
7841	MOGS	HP:0003577	Congenital onset	1/1	OMIM:606056
7841	MOGS	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:79330
7841	MOGS	HP:0002240	Hepatomegaly	1/1	OMIM:606056
7841	MOGS	HP:0002286	Fair hair	HP:0040283	ORPHA:79330
7841	MOGS	HP:0001007	Hirsutism	HP:0040282	ORPHA:79330
7841	MOGS	HP:0020110	Bone fracture	HP:0040283	ORPHA:79330
7841	MOGS	HP:0007108	Demyelinating peripheral neuropathy	1/1	OMIM:606056
7841	MOGS	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:79330
7841	MOGS	HP:0000648	Optic atrophy	HP:0040283	ORPHA:79330
7841	MOGS	HP:0000648	Optic atrophy	-	OMIM:606056
7841	MOGS	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:79330
7841	MOGS	HP:0004315	Decreased circulating IgG concentration	HP:0040283	ORPHA:79330
7841	MOGS	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:606056
7841	MOGS	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:606056
7841	MOGS	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040282	ORPHA:79330
7841	MOGS	HP:0012745	Short palpebral fissure	1/1	OMIM:606056
7841	MOGS	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:79330
7841	MOGS	HP:0004463	Absent brainstem auditory responses	HP:0040283	ORPHA:79330
7841	MOGS	HP:0012815	Hypoplastic female external genitalia	1/1	OMIM:606056
7841	MOGS	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:79330
7841	MOGS	HP:0003241	External genital hypoplasia	HP:0040282	ORPHA:79330
7841	MOGS	HP:0000969	Edema	HP:0040283	ORPHA:79330
7841	MOGS	HP:0000278	Retrognathia	1/1	OMIM:606056
7841	MOGS	HP:0000278	Retrognathia	HP:0040282	ORPHA:79330
7841	MOGS	HP:0001596	Alopecia	HP:0040283	ORPHA:79330
7841	MOGS	HP:0000269	Prominent occiput	HP:0040283	ORPHA:79330
7841	MOGS	HP:0000269	Prominent occiput	1/1	OMIM:606056
7841	MOGS	HP:0000218	High palate	HP:0040283	ORPHA:79330
7841	MOGS	HP:0000218	High palate	1/1	OMIM:606056
7841	MOGS	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:79330
7841	MOGS	HP:0002850	Decreased circulating total IgM	HP:0040282	ORPHA:79330
7841	MOGS	HP:0002943	Thoracic scoliosis	HP:0040283	ORPHA:79330
7841	MOGS	HP:0002943	Thoracic scoliosis	1/1	OMIM:606056
7841	MOGS	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:79330
7841	MOGS	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:79330
7841	MOGS	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:79330
7841	MOGS	HP:0000407	Sensorineural hearing impairment	-	OMIM:606056
7841	MOGS	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:79330
7841	MOGS	HP:0012450	Chronic constipation	HP:0040283	ORPHA:79330
7841	MOGS	HP:0000445	Wide nose	1/1	OMIM:606056
7841	MOGS	HP:0000445	Wide nose	HP:0040282	ORPHA:79330
7841	MOGS	HP:0000527	Long eyelashes	1/1	OMIM:606056
7841	MOGS	HP:0000527	Long eyelashes	HP:0040282	ORPHA:79330
7841	MOGS	HP:0000581	Blepharophimosis	-	OMIM:606056
7841	MOGS	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:79330
7846	TUBA1A	HP:0025102	Dysgenesis of the basal ganglia	HP:0040281	ORPHA:171680
7846	TUBA1A	HP:0025101	Dysgenesis of the hippocampus	HP:0040282	ORPHA:171680
7846	TUBA1A	HP:0025186	Marcus Gunn jaw winking synkinesis	HP:0040283	ORPHA:45358
7846	TUBA1A	HP:0009916	Anisocoria	HP:0040283	ORPHA:45358
7846	TUBA1A	HP:0020214	Startle-induced seizure	HP:0040283	ORPHA:467166
7846	TUBA1A	HP:0010864	Intellectual disability, severe	-	OMIM:611603
7846	TUBA1A	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:994
7846	TUBA1A	HP:0001290	Generalized hypotonia	-	OMIM:611603
7846	TUBA1A	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:171680
7846	TUBA1A	HP:0001274	Agenesis of corpus callosum	2/8	OMIM:611603
7846	TUBA1A	HP:0001273	Abnormal corpus callosum morphology	HP:0040281	ORPHA:467166
7846	TUBA1A	HP:0001270	Motor delay	-	OMIM:611603
7846	TUBA1A	HP:0001250	Seizure	3/5	OMIM:611603
7846	TUBA1A	HP:0001252	Hypotonia	HP:0040283	ORPHA:467166
7846	TUBA1A	HP:0001252	Hypotonia	-	OMIM:611603
7846	TUBA1A	HP:0001252	Hypotonia	HP:0040282	ORPHA:171680
7846	TUBA1A	HP:0001252	Hypotonia	HP:0040283	ORPHA:45358
7846	TUBA1A	HP:0001251	Ataxia	HP:0040283	ORPHA:467166
7846	TUBA1A	HP:0001251	Ataxia	-	OMIM:611603
7846	TUBA1A	HP:0001249	Intellectual disability	HP:0040283	ORPHA:45358
7846	TUBA1A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:467166
7846	TUBA1A	HP:0001263	Global developmental delay	5/5	OMIM:611603
7846	TUBA1A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:171680
7846	TUBA1A	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:994
7846	TUBA1A	HP:0001257	Spasticity	HP:0040282	ORPHA:171680
7846	TUBA1A	HP:0032389	Periventricular laminar heterotopia	1/8	OMIM:611603
7846	TUBA1A	HP:0032398	Dysgyria	HP:0040281	ORPHA:467166
7846	TUBA1A	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:171680
7846	TUBA1A	HP:0002510	Spastic tetraplegia	2/6	OMIM:611603
7846	TUBA1A	HP:6000709	Absent Bell phenomenon	HP:0040281	ORPHA:45358
7846	TUBA1A	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:45358
7846	TUBA1A	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:45358
7846	TUBA1A	HP:0025309	Abnormal pupil shape	HP:0040282	ORPHA:45358
7846	TUBA1A	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:994
7846	TUBA1A	HP:0001339	Lissencephaly	-	OMIM:611603
7846	TUBA1A	HP:0001339	Lissencephaly	HP:0040282	ORPHA:171680
7846	TUBA1A	HP:0001338	Partial agenesis of the corpus callosum	HP:0040283	ORPHA:171680
7846	TUBA1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:611603
7846	TUBA1A	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:994
7846	TUBA1A	HP:0001302	Pachygyria	3/8	OMIM:611603
7846	TUBA1A	HP:0001302	Pachygyria	HP:0040282	ORPHA:467166
7846	TUBA1A	HP:0001302	Pachygyria	HP:0040283	ORPHA:171680
7846	TUBA1A	HP:0001320	Cerebellar vermis hypoplasia	8/8	OMIM:611603
7846	TUBA1A	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:467166
7846	TUBA1A	HP:0001320	Cerebellar vermis hypoplasia	HP:0040282	ORPHA:171680
7846	TUBA1A	HP:0002650	Scoliosis	HP:0040282	ORPHA:994
7846	TUBA1A	HP:0032466	Aplasia of the olfactory bulb	HP:0040283	ORPHA:45358
7846	TUBA1A	HP:0001491	Congenital fibrosis of extraocular muscles	HP:0040281	ORPHA:45358
7846	TUBA1A	HP:0001488	Bilateral ptosis	HP:0040283	ORPHA:467166
7846	TUBA1A	HP:0000175	Cleft palate	HP:0040282	ORPHA:994
7846	TUBA1A	HP:0001477	Compensatory chin elevation	HP:0040282	ORPHA:45358
7846	TUBA1A	HP:0012110	Hypoplasia of the pons	HP:0040281	ORPHA:467166
7846	TUBA1A	HP:0002013	Vomiting	HP:0040283	ORPHA:45358
7846	TUBA1A	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:467166
7846	TUBA1A	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:994
7846	TUBA1A	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:994
7846	TUBA1A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:171680
7846	TUBA1A	HP:0002069	Bilateral tonic-clonic seizure	2/5	OMIM:611603
7846	TUBA1A	HP:0002079	Hypoplasia of the corpus callosum	2/8	OMIM:611603
7846	TUBA1A	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:171680
7846	TUBA1A	HP:0010489	Absent palmar crease	HP:0040281	ORPHA:994
7846	TUBA1A	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:467166
7846	TUBA1A	HP:0002119	Ventriculomegaly	8/8	OMIM:611603
7846	TUBA1A	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:467166
7846	TUBA1A	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:171680
7846	TUBA1A	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:45358
7846	TUBA1A	HP:0002126	Polymicrogyria	-	OMIM:611603
7846	TUBA1A	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:171680
7846	TUBA1A	HP:0002198	Dilated fourth ventricle	HP:0040282	ORPHA:171680
7846	TUBA1A	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:45358
7846	TUBA1A	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:994
7846	TUBA1A	HP:0003577	Congenital onset	-	OMIM:611603
7846	TUBA1A	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:171680
7846	TUBA1A	HP:0002282	Gray matter heterotopia	-	OMIM:611603
7846	TUBA1A	HP:0010663	Abnormal thalamus morphology	HP:0040281	ORPHA:467166
7846	TUBA1A	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:467166
7846	TUBA1A	HP:0001059	Pterygium	HP:0040283	ORPHA:994
7846	TUBA1A	HP:0002365	Hypoplasia of the brainstem	6/8	OMIM:611603
7846	TUBA1A	HP:0002365	Hypoplasia of the brainstem	HP:0040282	ORPHA:171680
7846	TUBA1A	HP:0002363	Abnormal brainstem morphology	HP:0040281	ORPHA:467166
7846	TUBA1A	HP:0002375	Hypokinesia	HP:0040281	ORPHA:994
7846	TUBA1A	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:45358
7846	TUBA1A	HP:0010818	Generalized tonic seizure	1/5	OMIM:611603
7846	TUBA1A	HP:0003623	Neonatal onset	-	OMIM:611603
7846	TUBA1A	HP:0002304	Akinesia	HP:0040281	ORPHA:994
7846	TUBA1A	HP:0030534	Abnormal best corrected visual acuity test	HP:0040281	ORPHA:45358
7846	TUBA1A	HP:0031882	Agyria	HP:0040283	ORPHA:171680
7846	TUBA1A	HP:0031882	Agyria	HP:0040282	ORPHA:467166
7846	TUBA1A	HP:0031882	Agyria	4/8	OMIM:611603
7846	TUBA1A	HP:0034051	Hypoplastic anterior limbs of the internal capsule	HP:0040282	ORPHA:171680
7846	TUBA1A	HP:0000639	Nystagmus	HP:0040283	ORPHA:171680
7846	TUBA1A	HP:0000646	Amblyopia	HP:0040282	ORPHA:45358
7846	TUBA1A	HP:0000616	Miosis	HP:0040282	ORPHA:45358
7846	TUBA1A	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:45358
7846	TUBA1A	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:171680
7846	TUBA1A	HP:0011347	Abnormality of ocular abduction	HP:0040281	ORPHA:45358
7846	TUBA1A	HP:0012650	Perisylvian polymicrogyria	HP:0040283	ORPHA:171680
7846	TUBA1A	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:467166
7846	TUBA1A	HP:0001989	Fetal akinesia sequence	HP:0040281	ORPHA:994
7846	TUBA1A	HP:0006989	Dysplastic corpus callosum	HP:0040283	ORPHA:171680
7846	TUBA1A	HP:0030588	Abnormal visual field test	HP:0040282	ORPHA:45358
7846	TUBA1A	HP:0009380	Finger aplasia	HP:0040283	ORPHA:45358
7846	TUBA1A	HP:0000256	Macrocephaly	HP:0040283	ORPHA:467166
7846	TUBA1A	HP:0012241	Levator palpebrae superioris atrophy	HP:0040281	ORPHA:45358
7846	TUBA1A	HP:0002828	Multiple joint contractures	HP:0040281	ORPHA:994
7846	TUBA1A	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:994
7846	TUBA1A	HP:0000252	Microcephaly	HP:0040281	ORPHA:467166
7846	TUBA1A	HP:0000252	Microcephaly	4/5	OMIM:611603
7846	TUBA1A	HP:0000252	Microcephaly	HP:0040282	ORPHA:171680
7846	TUBA1A	HP:0025517	Hypoplastic hippocampus	HP:0040283	ORPHA:171680
7846	TUBA1A	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:994
7846	TUBA1A	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:994
7846	TUBA1A	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	HP:0040282	ORPHA:45358
7846	TUBA1A	HP:0005245	Intestinal hypoplasia	HP:0040283	ORPHA:994
7846	TUBA1A	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:994
7846	TUBA1A	HP:0000347	Micrognathia	HP:0040281	ORPHA:994
7846	TUBA1A	HP:0000316	Hypertelorism	HP:0040282	ORPHA:994
7846	TUBA1A	HP:0000308	Microretrognathia	HP:0040282	ORPHA:171680
7846	TUBA1A	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:994
7846	TUBA1A	HP:0000486	Strabismus	HP:0040282	ORPHA:467166
7846	TUBA1A	HP:0000486	Strabismus	HP:0040281	ORPHA:45358
7846	TUBA1A	HP:0000486	Strabismus	HP:0040282	ORPHA:171680
7846	TUBA1A	HP:0030211	Slow pupillary light response	HP:0040281	ORPHA:45358
7846	TUBA1A	HP:0012469	Infantile spasms	HP:0040283	ORPHA:467166
7846	TUBA1A	HP:0012469	Infantile spasms	HP:0040283	ORPHA:171680
7846	TUBA1A	HP:0000476	Cystic hygroma	HP:0040282	ORPHA:994
7846	TUBA1A	HP:0000473	Torticollis	HP:0040283	ORPHA:45358
7846	TUBA1A	HP:0025721	Limited vertical extraocular movement	HP:0040281	ORPHA:45358
7846	TUBA1A	HP:0012502	Abnormality of the internal capsule	HP:0040281	ORPHA:467166
7846	TUBA1A	HP:0000518	Cataract	HP:0040283	ORPHA:45358
7846	TUBA1A	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:45358
7846	TUBA1A	HP:0000508	Ptosis	HP:0040281	ORPHA:45358
7846	TUBA1A	HP:0000577	Exotropia	HP:0040281	ORPHA:45358
7846	TUBA1A	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:467166
7846	TUBA1A	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:45358
7846	TUBA1A	HP:0000565	Esotropia	HP:0040283	ORPHA:45358
7846	TUBA1A	HP:0000539	Abnormality of refraction	HP:0040282	ORPHA:45358
7846	TUBA1A	HP:0000542	Impaired ocular adduction	HP:0040281	ORPHA:45358
7849	PAX8	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:95720
7849	PAX8	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:95713
7849	PAX8	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:95712
7849	PAX8	HP:0001254	Lethargy	-	OMIM:218700
7849	PAX8	HP:0001254	Lethargy	HP:0040282	ORPHA:95713
7849	PAX8	HP:0001252	Hypotonia	-	OMIM:218700
7849	PAX8	HP:0001252	Hypotonia	HP:0040281	ORPHA:95720
7849	PAX8	HP:0001252	Hypotonia	HP:0040281	ORPHA:95713
7849	PAX8	HP:0001252	Hypotonia	HP:0040281	ORPHA:95712
7849	PAX8	HP:0001263	Global developmental delay	HP:0040282	ORPHA:95720
7849	PAX8	HP:0001263	Global developmental delay	HP:0040282	ORPHA:95713
7849	PAX8	HP:0001263	Global developmental delay	HP:0040282	ORPHA:95712
7849	PAX8	HP:0008872	Feeding difficulties in infancy	-	OMIM:218700
7849	PAX8	HP:0001324	Muscle weakness	HP:0040281	ORPHA:95713
7849	PAX8	HP:0001324	Muscle weakness	HP:0040281	ORPHA:95712
7849	PAX8	HP:0000006	Autosomal dominant inheritance	-	OMIM:218700
7849	PAX8	HP:0025484	Increased circulating thyroglobulin concentration	1/2	OMIM:218700
7849	PAX8	HP:0025483	Abnormal circulating thyroglobulin concentration	HP:0040281	ORPHA:95713
7849	PAX8	HP:6000855	Cold intolerance	HP:0040282	ORPHA:95712
7849	PAX8	HP:0000158	Macroglossia	-	OMIM:218700
7849	PAX8	HP:0000158	Macroglossia	HP:0040281	ORPHA:95720
7849	PAX8	HP:0000158	Macroglossia	HP:0040281	ORPHA:95713
7849	PAX8	HP:0000158	Macroglossia	HP:0040281	ORPHA:95712
7849	PAX8	HP:0033850	Coldness	HP:0040282	ORPHA:95713
7849	PAX8	HP:0002750	Delayed skeletal maturation	-	OMIM:218700
7849	PAX8	HP:0002019	Constipation	-	OMIM:218700
7849	PAX8	HP:0002019	Constipation	HP:0040281	ORPHA:95720
7849	PAX8	HP:0002019	Constipation	HP:0040281	ORPHA:95713
7849	PAX8	HP:0002019	Constipation	HP:0040281	ORPHA:95712
7849	PAX8	HP:0005990	Thyroid hypoplasia	4/5	OMIM:218700
7849	PAX8	HP:0005990	Thyroid hypoplasia	HP:0040281	ORPHA:95720
7849	PAX8	HP:0002015	Dysphagia	HP:0040283	ORPHA:95712
7849	PAX8	HP:0002045	Hypothermia	-	OMIM:218700
7849	PAX8	HP:0008191	Thyroid agenesis	HP:0040281	ORPHA:95713
7849	PAX8	HP:0008191	Thyroid agenesis	1/5	OMIM:218700
7849	PAX8	HP:0008282	Unconjugated hyperbilirubinemia	HP:0040282	ORPHA:95713
7849	PAX8	HP:0003577	Congenital onset	1/4	OMIM:218700
7849	PAX8	HP:0100786	Hypersomnia	HP:0040281	ORPHA:95713
7849	PAX8	HP:0100786	Hypersomnia	HP:0040281	ORPHA:95712
7849	PAX8	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:95713
7849	PAX8	HP:0003623	Neonatal onset	2/4	OMIM:218700
7849	PAX8	HP:0003621	Juvenile onset	1/4	OMIM:218700
7849	PAX8	HP:0004322	Short stature	HP:0040282	ORPHA:95720
7849	PAX8	HP:0004322	Short stature	HP:0040282	ORPHA:95713
7849	PAX8	HP:0004322	Short stature	HP:0040282	ORPHA:95712
7849	PAX8	HP:0100028	Ectopic thyroid	-	OMIM:218700
7849	PAX8	HP:0100028	Ectopic thyroid	HP:0040280	ORPHA:95712
7849	PAX8	HP:0100029	Lingual thyroid	HP:0040281	ORPHA:95712
7849	PAX8	HP:0004491	Large posterior fontanelle	-	OMIM:218700
7849	PAX8	HP:0000851	Congenital hypothyroidism	-	OMIM:218700
7849	PAX8	HP:0000853	Goiter	-	OMIM:218700
7849	PAX8	HP:0000821	Hypothyroidism	5/5	OMIM:218700
7849	PAX8	HP:0000821	Hypothyroidism	HP:0040281	ORPHA:95720
7849	PAX8	HP:0000821	Hypothyroidism	HP:0040281	ORPHA:95713
7849	PAX8	HP:0000821	Hypothyroidism	HP:0040281	ORPHA:95712
7849	PAX8	HP:0000820	Abnormality of the thyroid gland	HP:0040281	ORPHA:95712
7849	PAX8	HP:0003270	Abdominal distention	-	OMIM:218700
7849	PAX8	HP:0003270	Abdominal distention	HP:0040281	ORPHA:95720
7849	PAX8	HP:0003270	Abdominal distention	HP:0040281	ORPHA:95713
7849	PAX8	HP:0003270	Abdominal distention	HP:0040281	ORPHA:95712
7849	PAX8	HP:0010307	Stridor	-	OMIM:218700
7849	PAX8	HP:0000958	Dry skin	-	OMIM:218700
7849	PAX8	HP:0000958	Dry skin	HP:0040282	ORPHA:95712
7849	PAX8	HP:0000952	Jaundice	HP:0040281	ORPHA:95720
7849	PAX8	HP:0000952	Jaundice	HP:0040281	ORPHA:95712
7849	PAX8	HP:0000282	Facial edema	HP:0040282	ORPHA:95713
7849	PAX8	HP:0000280	Coarse facial features	HP:0040281	ORPHA:95720
7849	PAX8	HP:0000280	Coarse facial features	HP:0040281	ORPHA:95713
7849	PAX8	HP:0000280	Coarse facial features	HP:0040281	ORPHA:95712
7849	PAX8	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:95720
7849	PAX8	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:95713
7849	PAX8	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:95712
7849	PAX8	HP:0000239	Large fontanelles	HP:0040281	ORPHA:95720
7849	PAX8	HP:0000239	Large fontanelles	HP:0040281	ORPHA:95713
7849	PAX8	HP:0000239	Large fontanelles	HP:0040281	ORPHA:95712
7849	PAX8	HP:0001537	Umbilical hernia	-	OMIM:218700
7849	PAX8	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:95713
7849	PAX8	HP:0001537	Umbilical hernia	HP:0040281	ORPHA:95712
7849	PAX8	HP:0001510	Growth delay	-	OMIM:218700
7849	PAX8	HP:0001510	Growth delay	HP:0040281	ORPHA:95720
7849	PAX8	HP:0001510	Growth delay	HP:0040282	ORPHA:95713
7849	PAX8	HP:0001510	Growth delay	HP:0040282	ORPHA:95712
7849	PAX8	HP:0031507	Decreased circulating T4 concentration	4/5	OMIM:218700
7849	PAX8	HP:0012378	Fatigue	HP:0040281	ORPHA:95720
7849	PAX8	HP:0012378	Fatigue	HP:0040281	ORPHA:95713
7849	PAX8	HP:0012378	Fatigue	HP:0040282	ORPHA:95712
7849	PAX8	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:95713
7849	PAX8	HP:0001609	Hoarse voice	HP:0040282	ORPHA:95712
7849	PAX8	HP:0001618	Dysphonia	HP:0040283	ORPHA:95712
7849	PAX8	HP:0001615	Hoarse cry	-	OMIM:218700
7849	PAX8	HP:0001615	Hoarse cry	HP:0040282	ORPHA:95713
7849	PAX8	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	HP:0040281	ORPHA:95712
7849	PAX8	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	4/4	OMIM:218700
7849	PAX8	HP:0002904	Hyperbilirubinemia	-	OMIM:218700
7849	PAX8	HP:0001662	Bradycardia	-	OMIM:218700
7852	CXCR4	HP:0100806	Sepsis	HP:0040284	ORPHA:51636
7852	CXCR4	HP:0001287	Meningitis	HP:0040284	ORPHA:51636
7852	CXCR4	HP:0001250	Seizure	HP:0040284	ORPHA:51636
7852	CXCR4	HP:0031020	Bone marrow hypercellularity	HP:0040281	ORPHA:51636
7852	CXCR4	HP:0031020	Bone marrow hypercellularity	-	OMIM:193670
7852	CXCR4	HP:0012056	Cutaneous melanoma	HP:0040284	ORPHA:51636
7852	CXCR4	HP:0000055	Abnormal female external genitalia morphology	-	OMIM:193670
7852	CXCR4	HP:0031160	Myelokathexis	-	OMIM:193670
7852	CXCR4	HP:0031160	Myelokathexis	HP:0040281	ORPHA:51636
7852	CXCR4	HP:0000008	Abnormal morphology of female internal genitalia	-	OMIM:193670
7852	CXCR4	HP:0000006	Autosomal dominant inheritance	-	OMIM:193670
7852	CXCR4	HP:0000166	Severe periodontitis	HP:0040284	ORPHA:51636
7852	CXCR4	HP:0025439	Pharyngitis	HP:0040283	ORPHA:51636
7852	CXCR4	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:193670
7852	CXCR4	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:51636
7852	CXCR4	HP:0002718	Recurrent bacterial infections	-	OMIM:193670
7852	CXCR4	HP:0002718	Recurrent bacterial infections	HP:0040282	ORPHA:51636
7852	CXCR4	HP:0002090	Pneumonia	HP:0040282	ORPHA:51636
7852	CXCR4	HP:0002070	Limb ataxia	HP:0040283	ORPHA:51636
7852	CXCR4	HP:0002110	Bronchiectasis	-	OMIM:193670
7852	CXCR4	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:51636
7852	CXCR4	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:51636
7852	CXCR4	HP:0002172	Postural instability	HP:0040283	ORPHA:51636
7852	CXCR4	HP:0011850	Parotitis	HP:0040284	ORPHA:51636
7852	CXCR4	HP:0003593	Infantile onset	-	OMIM:193670
7852	CXCR4	HP:0002244	Abnormal small intestine morphology	HP:0040283	ORPHA:51636
7852	CXCR4	HP:0100750	Atelectasis	HP:0040284	ORPHA:51636
7852	CXCR4	HP:0011992	Abnormal neutrophil morphology	HP:0040281	ORPHA:51636
7852	CXCR4	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:51636
7852	CXCR4	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:51636
7852	CXCR4	HP:0001045	Vitiligo	HP:0040284	ORPHA:51636
7852	CXCR4	HP:0100658	Cellulitis	HP:0040284	ORPHA:51636
7852	CXCR4	HP:0200043	Verrucae	-	OMIM:193670
7852	CXCR4	HP:0200043	Verrucae	HP:0040282	ORPHA:51636
7852	CXCR4	HP:0005561	Abnormal bone marrow cell morphology	-	OMIM:193670
7852	CXCR4	HP:0004315	Decreased circulating IgG concentration	-	OMIM:193670
7852	CXCR4	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:193670
7852	CXCR4	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040282	ORPHA:51636
7852	CXCR4	HP:0012740	Papilloma	HP:0040282	ORPHA:51636
7852	CXCR4	HP:0030079	Cervix cancer	HP:0040283	ORPHA:51636
7852	CXCR4	HP:0000246	Sinusitis	HP:0040283	ORPHA:51636
7852	CXCR4	HP:0002840	Lymphadenitis	HP:0040284	ORPHA:51636
7852	CXCR4	HP:0000388	Otitis media	HP:0040283	ORPHA:51636
7852	CXCR4	HP:0006532	Recurrent pneumonia	HP:0040282	ORPHA:51636
7852	CXCR4	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:51636
7852	CXCR4	HP:0001888	Decreased total lymphocyte count	HP:0040281	ORPHA:51636
7852	CXCR4	HP:0001875	Decreased total neutrophil count	-	OMIM:193670
7852	CXCR4	HP:0001875	Decreased total neutrophil count	HP:0040281	ORPHA:51636
7855	FZD5	HP:0000006	Autosomal dominant inheritance	-	OMIM:620731
7855	FZD5	HP:0007663	Reduced visual acuity	6/12	OMIM:620731
7855	FZD5	HP:0003577	Congenital onset	28/28	OMIM:620731
7855	FZD5	HP:0008499	High hypermetropia	3/11	OMIM:620731
7855	FZD5	HP:0000639	Nystagmus	9/28	OMIM:620731
7855	FZD5	HP:0000613	Photophobia	1/17	OMIM:620731
7855	FZD5	HP:0000612	Iris coloboma	16/28	OMIM:620731
7855	FZD5	HP:0100019	Cortical cataract	1/3	OMIM:620731
7855	FZD5	HP:0007766	Optic disc hypoplasia	7/14	OMIM:620731
7855	FZD5	HP:0007750	Hypoplasia of the fovea	1/14	OMIM:620731
7855	FZD5	HP:0011003	High myopia	5/15	OMIM:620731
7855	FZD5	HP:0000486	Strabismus	2/25	OMIM:620731
7855	FZD5	HP:0000480	Retinal coloboma	8/17	OMIM:620731
7855	FZD5	HP:0000588	Optic disc coloboma	4/11	OMIM:620731
7855	FZD5	HP:0000568	Microphthalmia	2/11	OMIM:620731
7855	FZD5	HP:0000567	Chorioretinal coloboma	8/11	OMIM:620731
7855	FZD5	HP:0000541	Retinal detachment	1/8	OMIM:620731
7862	BRPF1	HP:0001182	Tapered finger	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0010862	Delayed fine motor development	6/8	OMIM:617333
7862	BRPF1	HP:0001270	Motor delay	HP:0040281	ORPHA:435638
7862	BRPF1	HP:0001250	Seizure	5/10	OMIM:617333
7862	BRPF1	HP:0001252	Hypotonia	7/8	OMIM:617333
7862	BRPF1	HP:0001252	Hypotonia	HP:0040282	ORPHA:435638
7862	BRPF1	HP:0001251	Ataxia	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0001249	Intellectual disability	6/8	OMIM:617333
7862	BRPF1	HP:0001263	Global developmental delay	10/10	OMIM:617333
7862	BRPF1	HP:0001233	2-3 finger cutaneous syndactyly	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0001382	Joint hypermobility	6/10	OMIM:617333
7862	BRPF1	HP:0033725	Thin corpus callosum	1/7	OMIM:617333
7862	BRPF1	HP:0001344	Absent speech	HP:0040282	ORPHA:435638
7862	BRPF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617333
7862	BRPF1	HP:0002650	Scoliosis	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0000160	Narrow mouth	3/10	OMIM:617333
7862	BRPF1	HP:0000175	Cleft palate	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0000154	Wide mouth	1/10	OMIM:617333
7862	BRPF1	HP:0002705	High, narrow palate	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0002714	Downturned corners of mouth	1/10	OMIM:617333
7862	BRPF1	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0002002	Deep philtrum	HP:0040282	ORPHA:435638
7862	BRPF1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0004602	Cervical C2/C3 vertebral fusion	3/10	OMIM:617333
7862	BRPF1	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0009623	Proximal placement of thumb	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0002194	Delayed gross motor development	9/10	OMIM:617333
7862	BRPF1	HP:0003577	Congenital onset	10/10	OMIM:617333
7862	BRPF1	HP:0010663	Abnormal thalamus morphology	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0011968	Feeding difficulties	4/10	OMIM:617333
7862	BRPF1	HP:0003623	Neonatal onset	4/4	OMIM:617333
7862	BRPF1	HP:0010055	Broad hallux	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0011304	Broad thumb	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0004322	Short stature	2/20	OMIM:617333
7862	BRPF1	HP:0003086	Acromesomelia	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0031936	Delayed ability to walk	5/9	OMIM:617333
7862	BRPF1	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:435638
7862	BRPF1	HP:0000750	Delayed speech and language development	10/10	OMIM:617333
7862	BRPF1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:435638
7862	BRPF1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0012762	Cerebral white matter atrophy	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0034295	Reduced cerebral white matter volume	2/10	OMIM:617333
7862	BRPF1	HP:0030890	Hyperintensity of cerebral white matter on MRI	1/7	OMIM:617333
7862	BRPF1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0100259	Postaxial polydactyly	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0000960	Sacral dimple	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0000286	Epicanthus	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0000252	Microcephaly	1/10	OMIM:617333
7862	BRPF1	HP:0000248	Brachycephaly	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0001511	Intrauterine growth retardation	2/20	OMIM:617333
7862	BRPF1	HP:0001510	Growth delay	HP:0040283	OMIM:617333
7862	BRPF1	HP:0012385	Camptodactyly	-	OMIM:617333
7862	BRPF1	HP:0012368	Flat face	7/9	OMIM:617333
7862	BRPF1	HP:0006585	Congenital pseudoarthrosis of the clavicle	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0000356	Abnormality of the outer ear	HP:0040282	ORPHA:435638
7862	BRPF1	HP:0000369	Low-set ears	2/10	OMIM:617333
7862	BRPF1	HP:0000341	Narrow forehead	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0000343	Long philtrum	10/20	OMIM:617333
7862	BRPF1	HP:0000337	Broad forehead	3/10	OMIM:617333
7862	BRPF1	HP:0000347	Micrognathia	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0001677	Coronary artery atherosclerosis	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0000316	Hypertelorism	9/10	OMIM:617333
7862	BRPF1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0000311	Round face	7/10	OMIM:617333
7862	BRPF1	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0000322	Short philtrum	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0000322	Short philtrum	3/10	OMIM:617333
7862	BRPF1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:435638
7862	BRPF1	HP:0000486	Strabismus	2/10	OMIM:617333
7862	BRPF1	HP:0000494	Downslanted palpebral fissures	4/10	OMIM:617333
7862	BRPF1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:435638
7862	BRPF1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0000448	Prominent nose	HP:0040282	ORPHA:435638
7862	BRPF1	HP:0001762	Talipes equinovarus	10/20	OMIM:617333
7862	BRPF1	HP:0000431	Wide nasal bridge	9/10	OMIM:617333
7862	BRPF1	HP:0001845	Overlapping toe	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0000508	Ptosis	6/10	OMIM:617333
7862	BRPF1	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:435638
7862	BRPF1	HP:0000581	Blepharophimosis	4/8	OMIM:617333
7862	BRPF1	HP:0000568	Microphthalmia	HP:0040283	ORPHA:435638
7867	MAPKAPK3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
7867	MAPKAPK3	HP:0007401	Macular atrophy	-	OMIM:617111
7867	MAPKAPK3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
7867	MAPKAPK3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
7867	MAPKAPK3	HP:0000006	Autosomal dominant inheritance	-	OMIM:617111
7867	MAPKAPK3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
7867	MAPKAPK3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
7867	MAPKAPK3	HP:0007663	Reduced visual acuity	-	OMIM:617111
7867	MAPKAPK3	HP:0003621	Juvenile onset	8/19	OMIM:180100
7867	MAPKAPK3	HP:0000662	Nyctalopia	26/28	OMIM:180100
7867	MAPKAPK3	HP:0011463	Childhood onset	3/19	OMIM:180100
7867	MAPKAPK3	HP:0011462	Young adult onset	8/19	OMIM:180100
7867	MAPKAPK3	HP:0011462	Young adult onset	-	OMIM:617111
7867	MAPKAPK3	HP:0011506	Choroidal neovascularization	HP:0040284	OMIM:617111
7867	MAPKAPK3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
7867	MAPKAPK3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
7867	MAPKAPK3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
7867	MAPKAPK3	HP:0000510	Rod-cone dystrophy	-	OMIM:617111
7867	MAPKAPK3	HP:0000575	Scotoma	5/18	OMIM:180100
7867	MAPKAPK3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
7867	MAPKAPK3	HP:0000545	Myopia	-	OMIM:180100
7871	SLMAP	HP:0001279	Syncope	HP:0040282	ORPHA:130
7871	SLMAP	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
7871	SLMAP	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
7871	SLMAP	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
7871	SLMAP	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
7871	SLMAP	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
7871	SLMAP	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
7871	SLMAP	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
7871	SLMAP	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
7871	SLMAP	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
7871	SLMAP	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
7871	SLMAP	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
7873	MANF	HP:0001263	Global developmental delay	2/2	OMIM:620651
7873	MANF	HP:0031098	Decreased thyroid-stimulating hormone level	1/2	OMIM:620651
7873	MANF	HP:0000007	Autosomal recessive inheritance	-	OMIM:620651
7873	MANF	HP:0002650	Scoliosis	1/2	OMIM:620651
7873	MANF	HP:0005978	Type II diabetes mellitus	2/2	OMIM:620651
7873	MANF	HP:0003621	Juvenile onset	1/2	OMIM:620651
7873	MANF	HP:0004322	Short stature	2/2	OMIM:620651
7873	MANF	HP:0011462	Young adult onset	1/2	OMIM:620651
7873	MANF	HP:0000815	Hypergonadotropic hypogonadism	1/2	OMIM:620651
7873	MANF	HP:0040075	Hypopituitarism	1/2	OMIM:620651
7873	MANF	HP:0034323	Reduced circulating growth hormone concentration	1/2	OMIM:620651
7873	MANF	HP:0001596	Alopecia	1/2	OMIM:620651
7873	MANF	HP:0000252	Microcephaly	2/2	OMIM:620651
7873	MANF	HP:0011003	High myopia	1/2	OMIM:620651
7873	MANF	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:620651
7873	MANF	HP:0030344	Decreased circulating luteinizing hormone level	1/2	OMIM:620651
7873	MANF	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1/2	OMIM:620651
7874	USP7	HP:0025160	Abnormal temper tantrums	HP:0040283	ORPHA:500055
7874	USP7	HP:0001290	Generalized hypotonia	-	OMIM:616863
7874	USP7	HP:0001288	Gait disturbance	HP:0040282	ORPHA:500055
7874	USP7	HP:0001250	Seizure	5/7	OMIM:616863
7874	USP7	HP:0001250	Seizure	HP:0040282	ORPHA:500055
7874	USP7	HP:0001252	Hypotonia	4/7	OMIM:616863
7874	USP7	HP:0001252	Hypotonia	HP:0040282	ORPHA:500055
7874	USP7	HP:0001249	Intellectual disability	7/7	OMIM:616863
7874	USP7	HP:0001249	Intellectual disability	HP:0040282	ORPHA:500055
7874	USP7	HP:0001263	Global developmental delay	7/7	OMIM:616863
7874	USP7	HP:0001263	Global developmental delay	HP:0040281	ORPHA:500055
7874	USP7	HP:0008770	Obsessive-compulsive trait	HP:0040283	ORPHA:500055
7874	USP7	HP:0410263	Brain imaging abnormality	HP:0040281	ORPHA:500055
7874	USP7	HP:0001371	Flexion contracture	HP:0040283	ORPHA:500055
7874	USP7	HP:0000054	Micropenis	-	OMIM:616863
7874	USP7	HP:0000054	Micropenis	HP:0040283	ORPHA:500055
7874	USP7	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:500055
7874	USP7	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:500055
7874	USP7	HP:0000028	Cryptorchidism	3/4	OMIM:616863
7874	USP7	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:500055
7874	USP7	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:500055
7874	USP7	HP:0001344	Absent speech	-	OMIM:616863
7874	USP7	HP:0001344	Absent speech	HP:0040283	ORPHA:500055
7874	USP7	HP:0000006	Autosomal dominant inheritance	-	OMIM:616863
7874	USP7	HP:0002650	Scoliosis	HP:0040283	ORPHA:500055
7874	USP7	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:500055
7874	USP7	HP:0012166	Skin-picking	HP:0040283	ORPHA:500055
7874	USP7	HP:0000135	Hypogonadism	HP:0040282	ORPHA:500055
7874	USP7	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:500055
7874	USP7	HP:0002033	Poor suck	HP:0040283	ORPHA:500055
7874	USP7	HP:0002028	Chronic diarrhea	HP:0040283	ORPHA:500055
7874	USP7	HP:0002099	Asthma	HP:0040282	ORPHA:500055
7874	USP7	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:500055
7874	USP7	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:500055
7874	USP7	HP:0002186	Apraxia	3/7	OMIM:616863
7874	USP7	HP:0010536	Central sleep apnea	-	OMIM:616863
7874	USP7	HP:0010535	Sleep apnea	HP:0040283	ORPHA:500055
7874	USP7	HP:0100710	Impulsivity	HP:0040283	ORPHA:500055
7874	USP7	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:500055
7874	USP7	HP:0007082	Dilated third ventricle	HP:0040282	ORPHA:500055
7874	USP7	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:500055
7874	USP7	HP:0200055	Small hand	HP:0040283	ORPHA:500055
7874	USP7	HP:0004209	Clinodactyly of the 5th finger	1/7	OMIM:616863
7874	USP7	HP:0000639	Nystagmus	HP:0040283	ORPHA:500055
7874	USP7	HP:0001999	Abnormal facial shape	HP:0040283	OMIM:616863
7874	USP7	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:500055
7874	USP7	HP:0004322	Short stature	HP:0040282	ORPHA:500055
7874	USP7	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:500055
7874	USP7	HP:0000750	Delayed speech and language development	6/6	OMIM:616863
7874	USP7	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:500055
7874	USP7	HP:0000718	Aggressive behavior	5/7	OMIM:616863
7874	USP7	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:500055
7874	USP7	HP:0000729	Autistic behavior	5/7	OMIM:616863
7874	USP7	HP:0000729	Autistic behavior	HP:0040282	ORPHA:500055
7874	USP7	HP:0012762	Cerebral white matter atrophy	HP:0040282	ORPHA:500055
7874	USP7	HP:0004482	Relative macrocephaly	HP:0040283	ORPHA:500055
7874	USP7	HP:0000270	Delayed cranial suture closure	1/7	OMIM:616863
7874	USP7	HP:0002808	Kyphosis	HP:0040283	ORPHA:500055
7874	USP7	HP:0000243	Trigonocephaly	1/7	OMIM:616863
7874	USP7	HP:0000239	Large fontanelles	1/7	OMIM:616863
7874	USP7	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:500055
7874	USP7	HP:0000252	Microcephaly	HP:0040283	ORPHA:500055
7874	USP7	HP:0000248	Brachycephaly	HP:0040283	ORPHA:500055
7874	USP7	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:500055
7874	USP7	HP:0025502	Overweight	HP:0040283	ORPHA:500055
7874	USP7	HP:0001508	Failure to thrive	HP:0040282	ORPHA:500055
7874	USP7	HP:0011098	Speech apraxia	-	OMIM:616863
7874	USP7	HP:0000365	Hearing impairment	HP:0040283	ORPHA:500055
7874	USP7	HP:0000369	Low-set ears	1/7	OMIM:616863
7874	USP7	HP:0000486	Strabismus	-	OMIM:616863
7874	USP7	HP:0000486	Strabismus	HP:0040283	ORPHA:500055
7874	USP7	HP:0030223	Perseverative thought	-	OMIM:616863
7874	USP7	HP:0012450	Chronic constipation	HP:0040282	ORPHA:500055
7874	USP7	HP:0001773	Short foot	HP:0040283	ORPHA:500055
7874	USP7	HP:0012412	Premature adrenarche	1/2	OMIM:616863
7874	USP7	HP:0001822	Hallux valgus	1/7	OMIM:616863
7874	USP7	HP:0000565	Esotropia	HP:0040282	ORPHA:500055
7874	USP7	HP:0000545	Myopia	HP:0040283	ORPHA:500055
7879	RAB7A	HP:0002460	Distal muscle weakness	-	OMIM:600882
7879	RAB7A	HP:0001284	Areflexia	-	OMIM:600882
7879	RAB7A	HP:0001265	Hyporeflexia	-	OMIM:600882
7879	RAB7A	HP:0001218	Autoamputation	-	OMIM:600882
7879	RAB7A	HP:0000006	Autosomal dominant inheritance	-	OMIM:600882
7879	RAB7A	HP:0008944	Distal lower limb amyotrophy	1/1	OMIM:600882
7879	RAB7A	HP:0003378	Axonal degeneration/regeneration	-	OMIM:600882
7879	RAB7A	HP:0003376	Steppage gait	1/1	OMIM:600882
7879	RAB7A	HP:0003384	Peripheral axonal atrophy	-	OMIM:600882
7879	RAB7A	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:600882
7879	RAB7A	HP:0003474	Somatic sensory dysfunction	-	OMIM:600882
7879	RAB7A	HP:0003431	Decreased motor nerve conduction velocity	1/1	OMIM:600882
7879	RAB7A	HP:0003438	Absent Achilles reflex	1/1	OMIM:600882
7879	RAB7A	HP:0033383	Decreased compound muscle action potential amplitude	1/1	OMIM:600882
7879	RAB7A	HP:0002380	Fasciculations	1/1	OMIM:600882
7879	RAB7A	HP:0003693	Distal amyotrophy	-	OMIM:600882
7879	RAB7A	HP:0009830	Peripheral neuropathy	-	OMIM:600882
7879	RAB7A	HP:0007141	Sensorimotor neuropathy	1/1	OMIM:600882
7879	RAB7A	HP:0003621	Juvenile onset	1/1	OMIM:600882
7879	RAB7A	HP:0009053	Distal lower limb muscle weakness	1/1	OMIM:600882
7879	RAB7A	HP:0009027	Foot dorsiflexor weakness	-	OMIM:600882
7879	RAB7A	HP:0006937	Impaired distal tactile sensation	1/1	OMIM:600882
7879	RAB7A	HP:0000763	Sensory neuropathy	-	OMIM:600882
7879	RAB7A	HP:0001763	Pes planus	-	OMIM:600882
7879	RAB7A	HP:0001765	Hammertoe	-	OMIM:600882
7879	RAB7A	HP:0001761	Pes cavus	1/1	OMIM:600882
7879	RAB7A	HP:0001810	Dystrophic toenail	-	OMIM:600882
7879	RAB7A	HP:0001886	Foot osteomyelitis	1/1	OMIM:600882
7879	RAB7A	HP:0001868	Autoamputation of foot	-	OMIM:600882
7915	ALDH5A1	HP:0002487	Hyperkinetic movements	-	OMIM:271980
7915	ALDH5A1	HP:6000608	Elevated urinary 3,4-Dihydroxybutyric acid level	-	OMIM:271980
7915	ALDH5A1	HP:0001290	Generalized hypotonia	49/62	OMIM:271980
7915	ALDH5A1	HP:0001272	Cerebellar atrophy	3/37	OMIM:271980
7915	ALDH5A1	HP:0001270	Motor delay	49/62	OMIM:271980
7915	ALDH5A1	HP:0001250	Seizure	27/62	OMIM:271980
7915	ALDH5A1	HP:0001252	Hypotonia	HP:0040281	ORPHA:22
7915	ALDH5A1	HP:0001252	Hypotonia	-	OMIM:271980
7915	ALDH5A1	HP:0001251	Ataxia	HP:0040281	ORPHA:22
7915	ALDH5A1	HP:0001251	Ataxia	28/62	OMIM:271980
7915	ALDH5A1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:22
7915	ALDH5A1	HP:0001249	Intellectual disability	47/62	OMIM:271980
7915	ALDH5A1	HP:0001265	Hyporeflexia	26/62	OMIM:271980
7915	ALDH5A1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:22
7915	ALDH5A1	HP:0001263	Global developmental delay	20/20	OMIM:271980
7915	ALDH5A1	HP:0500253	Increased level of gamma-aminobutyric acid in urine	-	OMIM:271980
7915	ALDH5A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:271980
7915	ALDH5A1	HP:0410053	Elevated circulating gamma-aminobutyric acid concentration	-	OMIM:271980
7915	ALDH5A1	HP:0032528	Elevated urinary 4-hydroxybutyric acid	-	OMIM:271980
7915	ALDH5A1	HP:0032530	Decreased tissue succinic semialdehyde dehydrogenase activity	-	OMIM:271980
7915	ALDH5A1	HP:0032531	Elevated CSF gamma-aminobutyric acid concentration	-	OMIM:271980
7915	ALDH5A1	HP:0032532	Elevated CSF 4-hydroxybutyric acid concentration	-	OMIM:271980
7915	ALDH5A1	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:271980
7915	ALDH5A1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:22
7915	ALDH5A1	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:22
7915	ALDH5A1	HP:0002123	Generalized myoclonic seizure	-	OMIM:271980
7915	ALDH5A1	HP:0002121	Generalized non-motor (absence) seizure	-	OMIM:271980
7915	ALDH5A1	HP:0002133	Status epilepticus	HP:0040282	ORPHA:22
7915	ALDH5A1	HP:0002133	Status epilepticus	-	OMIM:271980
7915	ALDH5A1	HP:0002188	Delayed CNS myelination	2/37	OMIM:271980
7915	ALDH5A1	HP:0003593	Infantile onset	1/14	OMIM:271980
7915	ALDH5A1	HP:0100716	Self-injurious behavior	-	OMIM:271980
7915	ALDH5A1	HP:0002353	EEG abnormality	-	OMIM:271980
7915	ALDH5A1	HP:0003621	Juvenile onset	5/14	OMIM:271980
7915	ALDH5A1	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:22
7915	ALDH5A1	HP:0000752	Hyperactivity	-	OMIM:271980
7915	ALDH5A1	HP:0000738	Hallucinations	-	OMIM:271980
7915	ALDH5A1	HP:0000739	Anxiety	-	OMIM:271980
7915	ALDH5A1	HP:0000750	Delayed speech and language development	50/62	OMIM:271980
7915	ALDH5A1	HP:0000718	Aggressive behavior	-	OMIM:271980
7915	ALDH5A1	HP:0000717	Autism	-	OMIM:271980
7915	ALDH5A1	HP:0000709	Psychosis	-	OMIM:271980
7915	ALDH5A1	HP:0000708	Atypical behavior	28/62	OMIM:271980
7915	ALDH5A1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:22
7915	ALDH5A1	HP:0011463	Childhood onset	7/14	OMIM:271980
7915	ALDH5A1	HP:0011462	Young adult onset	1/14	OMIM:271980
7915	ALDH5A1	HP:6000991	Elevated circulating 4-hydroxybutyric acid concentration	-	OMIM:271980
7915	ALDH5A1	HP:0000496	Abnormality of eye movement	-	OMIM:271980
7920	ABHD16A	HP:0002460	Distal muscle weakness	3/4	OMIM:619735
7920	ABHD16A	HP:0001251	Ataxia	0/4	OMIM:619735
7920	ABHD16A	HP:0001249	Intellectual disability	4/4	OMIM:619735
7920	ABHD16A	HP:0001266	Choreoathetosis	2/4	OMIM:619735
7920	ABHD16A	HP:0001263	Global developmental delay	4/4	OMIM:619735
7920	ABHD16A	HP:0001258	Spastic paraplegia	4/4	OMIM:619735
7920	ABHD16A	HP:0002540	Inability to walk	4/4	OMIM:619735
7920	ABHD16A	HP:0001347	Hyperreflexia	4/4	OMIM:619735
7920	ABHD16A	HP:0033725	Thin corpus callosum	2/2	OMIM:619735
7920	ABHD16A	HP:0001344	Absent speech	4/4	OMIM:619735
7920	ABHD16A	HP:0000007	Autosomal recessive inheritance	-	OMIM:619735
7920	ABHD16A	HP:0002650	Scoliosis	1/4	OMIM:619735
7920	ABHD16A	HP:0003487	Babinski sign	2/3	OMIM:619735
7920	ABHD16A	HP:0003593	Infantile onset	3/4	OMIM:619735
7920	ABHD16A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/4	OMIM:619735
7920	ABHD16A	HP:0003623	Neonatal onset	1/4	OMIM:619735
7920	ABHD16A	HP:0030891	Periventricular white matter hyperintensities	2/2	OMIM:619735
7920	ABHD16A	HP:0001772	Talipes equinovalgus	1/4	OMIM:619735
7920	ABHD16A	HP:0001776	Bilateral talipes equinovarus	1/4	OMIM:619735
7922	SLC39A7	HP:0000007	Autosomal recessive inheritance	-	OMIM:619693
7922	SLC39A7	HP:0002718	Recurrent bacterial infections	6/6	OMIM:619693
7922	SLC39A7	HP:0003593	Infantile onset	1/6	OMIM:619693
7922	SLC39A7	HP:0001051	Seborrheic dermatitis	1/6	OMIM:619693
7922	SLC39A7	HP:0003623	Neonatal onset	3/6	OMIM:619693
7922	SLC39A7	HP:0011463	Childhood onset	2/6	OMIM:619693
7922	SLC39A7	HP:0004432	Agammaglobulinemia	6/6	OMIM:619693
7922	SLC39A7	HP:0000964	Eczematoid dermatitis	2/6	OMIM:619693
7922	SLC39A7	HP:0001508	Failure to thrive	2/6	OMIM:619693
7922	SLC39A7	HP:0000407	Sensorineural hearing impairment	1/6	OMIM:619693
7922	SLC39A7	HP:0030252	Absent circulating B cells	6/6	OMIM:619693
7922	SLC39A7	HP:0001873	Thrombocytopenia	2/6	OMIM:619693
7941	PLA2G7	HP:0000007	Autosomal recessive inheritance	-	OMIM:614278
7941	PLA2G7	HP:0040175	Platelet-activating factor acetylhydrolase deficiency	-	OMIM:614278
7941	PLA2G7	HP:0040178	Increased level of platelet-activating factor	-	OMIM:614278
7957	EPM2A	HP:0007270	Atypical absence seizure	HP:0040283	ORPHA:501
7957	EPM2A	HP:0001268	Mental deterioration	HP:0040282	ORPHA:501
7957	EPM2A	HP:0001289	Confusion	HP:0040282	ORPHA:501
7957	EPM2A	HP:0001288	Gait disturbance	HP:0040282	ORPHA:501
7957	EPM2A	HP:0001288	Gait disturbance	-	OMIM:254780
7957	EPM2A	HP:0001250	Seizure	HP:0040281	ORPHA:501
7957	EPM2A	HP:0001251	Ataxia	HP:0040282	ORPHA:501
7957	EPM2A	HP:0001260	Dysarthria	HP:0040282	ORPHA:501
7957	EPM2A	HP:0001257	Spasticity	HP:0040282	ORPHA:501
7957	EPM2A	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:501
7957	EPM2A	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040283	ORPHA:501
7957	EPM2A	HP:0007334	Bilateral tonic-clonic seizure with focal onset	-	OMIM:254780
7957	EPM2A	HP:0002540	Inability to walk	HP:0040282	ORPHA:501
7957	EPM2A	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:501
7957	EPM2A	HP:0001399	Hepatic failure	HP:0040283	ORPHA:501
7957	EPM2A	HP:0001399	Hepatic failure	-	OMIM:254780
7957	EPM2A	HP:0025357	Erratic myoclonus	HP:0040282	ORPHA:501
7957	EPM2A	HP:0007537	Severe photosensitivity	HP:0040283	ORPHA:501
7957	EPM2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:254780
7957	EPM2A	HP:0001336	Myoclonus	HP:0040283	ORPHA:501
7957	EPM2A	HP:0001336	Myoclonus	-	OMIM:254780
7957	EPM2A	HP:0001312	Giant somatosensory evoked potentials	HP:0040282	ORPHA:501
7957	EPM2A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:501
7957	EPM2A	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:254780
7957	EPM2A	HP:0040288	Nasogastric tube feeding	HP:0040282	ORPHA:501
7957	EPM2A	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:501
7957	EPM2A	HP:0002123	Generalized myoclonic seizure	-	OMIM:254780
7957	EPM2A	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:501
7957	EPM2A	HP:0002121	Generalized non-motor (absence) seizure	-	OMIM:254780
7957	EPM2A	HP:0002133	Status epilepticus	HP:0040282	ORPHA:501
7957	EPM2A	HP:0002100	Recurrent aspiration pneumonia	HP:0040282	ORPHA:501
7957	EPM2A	HP:0002186	Apraxia	-	OMIM:254780
7957	EPM2A	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:501
7957	EPM2A	HP:0002367	Visual hallucination	-	OMIM:254780
7957	EPM2A	HP:0002367	Visual hallucination	HP:0040282	ORPHA:501
7957	EPM2A	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:501
7957	EPM2A	HP:0002344	Progressive neurologic deterioration	-	OMIM:254780
7957	EPM2A	HP:0003678	Rapidly progressive	-	OMIM:254780
7957	EPM2A	HP:0002315	Headache	HP:0040282	ORPHA:501
7957	EPM2A	HP:0010819	Atonic seizure	HP:0040283	ORPHA:501
7957	EPM2A	HP:0000716	Depression	HP:0040282	ORPHA:501
7957	EPM2A	HP:0000712	Emotional lability	HP:0040282	ORPHA:501
7957	EPM2A	HP:0000726	Dementia	HP:0040282	ORPHA:501
7957	EPM2A	HP:0000726	Dementia	-	OMIM:254780
7957	EPM2A	HP:0000709	Psychosis	-	OMIM:254780
7957	EPM2A	HP:0100318	Lafora bodies	-	OMIM:254780
7957	EPM2A	HP:0100318	Lafora bodies	HP:0040280	ORPHA:501
7957	EPM2A	HP:0000992	Cutaneous photosensitivity	-	OMIM:254780
7957	EPM2A	HP:0031358	Vegetative state	HP:0040283	ORPHA:501
7957	EPM2A	HP:0011165	Focal sensory seizure with visual features	20/20	OMIM:254780
7957	EPM2A	HP:0011165	Focal sensory seizure with visual features	HP:0040283	ORPHA:501
7957	EPM2A	HP:0012444	Brain atrophy	HP:0040283	ORPHA:501
7957	EPM2A	HP:0000572	Visual loss	-	OMIM:254780
7965	AIMP2	HP:0002415	Leukodystrophy	-	OMIM:618006
7965	AIMP2	HP:0001272	Cerebellar atrophy	-	OMIM:618006
7965	AIMP2	HP:0001250	Seizure	4/4	OMIM:618006
7965	AIMP2	HP:0002540	Inability to walk	4/4	OMIM:618006
7965	AIMP2	HP:0002521	Hypsarrhythmia	-	OMIM:618006
7965	AIMP2	HP:0001371	Flexion contracture	2/4	OMIM:618006
7965	AIMP2	HP:0001347	Hyperreflexia	4/4	OMIM:618006
7965	AIMP2	HP:0001344	Absent speech	4/4	OMIM:618006
7965	AIMP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618006
7965	AIMP2	HP:0002751	Kyphoscoliosis	2/4	OMIM:618006
7965	AIMP2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:618006
7965	AIMP2	HP:0002059	Cerebral atrophy	-	OMIM:618006
7965	AIMP2	HP:0002187	Intellectual disability, profound	-	OMIM:618006
7965	AIMP2	HP:0003593	Infantile onset	-	OMIM:618006
7965	AIMP2	HP:0011968	Feeding difficulties	4/4	OMIM:618006
7965	AIMP2	HP:0003676	Progressive	-	OMIM:618006
7965	AIMP2	HP:0001007	Hirsutism	2/4	OMIM:618006
7965	AIMP2	HP:0009765	Low hanging columella	2/4	OMIM:618006
7965	AIMP2	HP:0000687	Widely spaced teeth	2/4	OMIM:618006
7965	AIMP2	HP:0012736	Profound global developmental delay	4/4	OMIM:618006
7965	AIMP2	HP:0000252	Microcephaly	4/4	OMIM:618006
7965	AIMP2	HP:0000212	Gingival overgrowth	2/4	OMIM:618006
7965	AIMP2	HP:0001522	Death in infancy	1/4	OMIM:618006
7965	AIMP2	HP:0001510	Growth delay	4/4	OMIM:618006
7965	AIMP2	HP:0000303	Mandibular prognathia	2/4	OMIM:618006
7965	AIMP2	HP:0012471	Thick vermilion border	2/4	OMIM:618006
7965	AIMP2	HP:0000463	Anteverted nares	2/4	OMIM:618006
7979	SEM1	HP:0001171	Split hand	HP:0040283	ORPHA:2440
7979	SEM1	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:2440
7979	SEM1	HP:0012165	Oligodactyly	HP:0040281	ORPHA:2440
7979	SEM1	HP:0004058	Hand monodactyly	HP:0040282	ORPHA:2440
7979	SEM1	HP:0004050	Absent hand	HP:0040283	ORPHA:2440
7979	SEM1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2440
7979	SEM1	HP:0000526	Aniridia	HP:0040283	ORPHA:2440
7979	SEM1	HP:0001839	Split foot	HP:0040282	ORPHA:2440
7991	TUSC3	HP:0010864	Intellectual disability, severe	2/2	OMIM:611093
7991	TUSC3	HP:0001249	Intellectual disability	7/7	OMIM:611093
7991	TUSC3	HP:0001263	Global developmental delay	2/2	OMIM:611093
7991	TUSC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:611093
7991	TUSC3	HP:0011463	Childhood onset	2/2	OMIM:611093
7991	TUSC3	HP:0000252	Microcephaly	0/7	OMIM:611093
7994	KAT6A	HP:0001156	Brachydactyly	HP:0040283	ORPHA:457193
7994	KAT6A	HP:0001156	Brachydactyly	1/4	OMIM:616268
7994	KAT6A	HP:0002465	Poor speech	HP:0040281	ORPHA:457193
7994	KAT6A	HP:0008593	Prominent antitragus	3/5	OMIM:616268
7994	KAT6A	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:457193
7994	KAT6A	HP:0007210	Lower limb amyotrophy	4/5	OMIM:616268
7994	KAT6A	HP:0001290	Generalized hypotonia	2/5	OMIM:616268
7994	KAT6A	HP:0100818	Long thorax	5/5	OMIM:616268
7994	KAT6A	HP:0001250	Seizure	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0001250	Seizure	3/5	OMIM:616268
7994	KAT6A	HP:0001252	Hypotonia	3/4	OMIM:616268
7994	KAT6A	HP:0001249	Intellectual disability	5/5	OMIM:616268
7994	KAT6A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:457193
7994	KAT6A	HP:0001263	Global developmental delay	7/9	OMIM:616268
7994	KAT6A	HP:0002562	Low-set nipples	3/4	OMIM:616268
7994	KAT6A	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:457193
7994	KAT6A	HP:0002566	Intestinal malrotation	1/4	OMIM:616268
7994	KAT6A	HP:0008689	Bilateral cryptorchidism	1/2	OMIM:616268
7994	KAT6A	HP:0002553	Highly arched eyebrow	5/5	OMIM:616268
7994	KAT6A	HP:0025336	Delayed ability to sit	4/4	OMIM:616268
7994	KAT6A	HP:0025325	Sparse medial eyebrow	5/5	OMIM:616268
7994	KAT6A	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0001363	Craniosynostosis	-	OMIM:616268
7994	KAT6A	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0001357	Plagiocephaly	-	OMIM:616268
7994	KAT6A	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:457193
7994	KAT6A	HP:0006185	Enlarged proximal interphalangeal joints	2/5	OMIM:616268
7994	KAT6A	HP:0001332	Dystonia	HP:0040283	ORPHA:457193
7994	KAT6A	HP:0001332	Dystonia	1/4	OMIM:616268
7994	KAT6A	HP:0000010	Recurrent urinary tract infections	1/4	OMIM:616268
7994	KAT6A	HP:0001344	Absent speech	7/9	OMIM:616268
7994	KAT6A	HP:0000006	Autosomal dominant inheritance	-	OMIM:616268
7994	KAT6A	HP:0001319	Neonatal hypotonia	HP:0040281	ORPHA:457193
7994	KAT6A	HP:0001319	Neonatal hypotonia	-	OMIM:616268
7994	KAT6A	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0002643	Neonatal respiratory distress	-	OMIM:616268
7994	KAT6A	HP:0000160	Narrow mouth	2/5	OMIM:616268
7994	KAT6A	HP:0000175	Cleft palate	HP:0040283	ORPHA:457193
7994	KAT6A	HP:0000175	Cleft palate	1/4	OMIM:616268
7994	KAT6A	HP:0000154	Wide mouth	2/5	OMIM:616268
7994	KAT6A	HP:0001480	Freckling	2/5	OMIM:616268
7994	KAT6A	HP:0006342	Peg-shaped maxillary lateral incisors	1/4	OMIM:616268
7994	KAT6A	HP:0007678	Lacrimal duct stenosis	2/5	OMIM:616268
7994	KAT6A	HP:0007678	Lacrimal duct stenosis	HP:0040283	ORPHA:457193
7994	KAT6A	HP:0008936	Axial hypotonia	1/4	OMIM:616268
7994	KAT6A	HP:0002780	Bronchomalacia	1/4	OMIM:616268
7994	KAT6A	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:457193
7994	KAT6A	HP:0000126	Hydronephrosis	1/4	OMIM:616268
7994	KAT6A	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0002714	Downturned corners of mouth	-	OMIM:616268
7994	KAT6A	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0002020	Gastroesophageal reflux	3/4	OMIM:616268
7994	KAT6A	HP:0002015	Dysphagia	1/4	OMIM:616268
7994	KAT6A	HP:0002007	Frontal bossing	2/5	OMIM:616268
7994	KAT6A	HP:0011800	Midface retrusion	3/5	OMIM:616268
7994	KAT6A	HP:0002098	Respiratory distress	1/5	OMIM:616268
7994	KAT6A	HP:0100559	Lower limb asymmetry	1/4	OMIM:616268
7994	KAT6A	HP:0002141	Gait imbalance	5/5	OMIM:616268
7994	KAT6A	HP:0002100	Recurrent aspiration pneumonia	1/4	OMIM:616268
7994	KAT6A	HP:0011939	3-4 finger cutaneous syndactyly	1/5	OMIM:616268
7994	KAT6A	HP:0003577	Congenital onset	4/4	OMIM:616268
7994	KAT6A	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0100704	Cerebral visual impairment	-	OMIM:616268
7994	KAT6A	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0002205	Recurrent respiratory infections	1/4	OMIM:616268
7994	KAT6A	HP:0100785	Insomnia	1/4	OMIM:616268
7994	KAT6A	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0011968	Feeding difficulties	3/4	OMIM:616268
7994	KAT6A	HP:0020045	Esodeviation	4/5	OMIM:616268
7994	KAT6A	HP:0002360	Sleep abnormality	2/5	OMIM:616268
7994	KAT6A	HP:0009765	Low hanging columella	1/5	OMIM:616268
7994	KAT6A	HP:0006895	Lower limb hypertonia	3/5	OMIM:616268
7994	KAT6A	HP:0000646	Amblyopia	2/5	OMIM:616268
7994	KAT6A	HP:0000648	Optic atrophy	HP:0040283	ORPHA:457193
7994	KAT6A	HP:0000648	Optic atrophy	1/2	OMIM:616268
7994	KAT6A	HP:0010051	Deviation of the hallux	2/5	OMIM:616268
7994	KAT6A	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:457193
7994	KAT6A	HP:0004322	Short stature	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0031936	Delayed ability to walk	4/4	OMIM:616268
7994	KAT6A	HP:0000767	Pectus excavatum	1/5	OMIM:616268
7994	KAT6A	HP:0012724	Upper eyelid edema	1/5	OMIM:616268
7994	KAT6A	HP:0000733	Motor stereotypy	4/5	OMIM:616268
7994	KAT6A	HP:0000729	Autistic behavior	4/8	OMIM:616268
7994	KAT6A	HP:0011451	Primary microcephaly	4/4	OMIM:616268
7994	KAT6A	HP:0010109	Short hallux	2/5	OMIM:616268
7994	KAT6A	HP:0000774	Narrow chest	5/5	OMIM:616268
7994	KAT6A	HP:0009129	Upper limb amyotrophy	4/5	OMIM:616268
7994	KAT6A	HP:0003186	Inverted nipples	1/4	OMIM:616268
7994	KAT6A	HP:0004467	Preauricular pit	HP:0040283	ORPHA:457193
7994	KAT6A	HP:0040080	Anteverted ears	2/5	OMIM:616268
7994	KAT6A	HP:0045074	Thin eyebrow	3/5	OMIM:616268
7994	KAT6A	HP:0000286	Epicanthus	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0000286	Epicanthus	5/9	OMIM:616268
7994	KAT6A	HP:0000276	Long face	4/5	OMIM:616268
7994	KAT6A	HP:0000252	Microcephaly	HP:0040281	ORPHA:457193
7994	KAT6A	HP:0000252	Microcephaly	5/5	OMIM:616268
7994	KAT6A	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:457193
7994	KAT6A	HP:0000219	Thin upper lip vermilion	-	OMIM:616268
7994	KAT6A	HP:0001544	Prominent umbilicus	1/5	OMIM:616268
7994	KAT6A	HP:0002857	Genu valgum	2/5	OMIM:616268
7994	KAT6A	HP:0001538	Protuberant abdomen	2/5	OMIM:616268
7994	KAT6A	HP:0001511	Intrauterine growth retardation	1/4	OMIM:616268
7994	KAT6A	HP:0001510	Growth delay	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0001510	Growth delay	1/4	OMIM:616268
7994	KAT6A	HP:0000385	Small earlobe	3/5	OMIM:616268
7994	KAT6A	HP:0000395	Prominent antihelix	5/5	OMIM:616268
7994	KAT6A	HP:0000389	Chronic otitis media	1/4	OMIM:616268
7994	KAT6A	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:457193
7994	KAT6A	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0000358	Posteriorly rotated ears	-	OMIM:616268
7994	KAT6A	HP:0000369	Low-set ears	4/5	OMIM:616268
7994	KAT6A	HP:0000341	Narrow forehead	HP:0040281	ORPHA:457193
7994	KAT6A	HP:0000341	Narrow forehead	-	OMIM:616268
7994	KAT6A	HP:0001684	Secundum atrial septal defect	1/4	OMIM:616268
7994	KAT6A	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0001643	Patent ductus arteriosus	-	OMIM:616268
7994	KAT6A	HP:0001642	Pulmonic stenosis	1/5	OMIM:616268
7994	KAT6A	HP:0000322	Short philtrum	2/5	OMIM:616268
7994	KAT6A	HP:0000325	Triangular face	4/5	OMIM:616268
7994	KAT6A	HP:0000324	Facial asymmetry	2/5	OMIM:616268
7994	KAT6A	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0001629	Ventricular septal defect	1/3	OMIM:616268
7994	KAT6A	HP:0002970	Genu varum	1/5	OMIM:616268
7994	KAT6A	HP:0000308	Microretrognathia	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0000308	Microretrognathia	-	OMIM:616268
7994	KAT6A	HP:0000307	Pointed chin	3/5	OMIM:616268
7994	KAT6A	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0001631	Atrial septal defect	4/8	OMIM:616268
7994	KAT6A	HP:0000303	Mandibular prognathia	2/5	OMIM:616268
7994	KAT6A	HP:0006610	Wide intermamillary distance	5/5	OMIM:616268
7994	KAT6A	HP:0000403	Recurrent otitis media	1/4	OMIM:616268
7994	KAT6A	HP:0000483	Astigmatism	2/5	OMIM:616268
7994	KAT6A	HP:0000486	Strabismus	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0000486	Strabismus	4/8	OMIM:616268
7994	KAT6A	HP:0000490	Deeply set eye	2/5	OMIM:616268
7994	KAT6A	HP:0000455	Broad nasal tip	HP:0040281	ORPHA:457193
7994	KAT6A	HP:0000455	Broad nasal tip	4/5	OMIM:616268
7994	KAT6A	HP:0000456	Bifid nasal tip	1/4	OMIM:616268
7994	KAT6A	HP:0000465	Webbed neck	0/5	OMIM:616268
7994	KAT6A	HP:0001763	Pes planus	4/5	OMIM:616268
7994	KAT6A	HP:0001765	Hammertoe	1/5	OMIM:616268
7994	KAT6A	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:457193
7994	KAT6A	HP:0000426	Prominent nasal bridge	4/13	OMIM:616268
7994	KAT6A	HP:0011272	Underdeveloped tragus	2/5	OMIM:616268
7994	KAT6A	HP:0001852	Sandal gap	1/5	OMIM:616268
7994	KAT6A	HP:0000520	Proptosis	2/5	OMIM:616268
7994	KAT6A	HP:0000509	Conjunctivitis	1/5	OMIM:616268
7994	KAT6A	HP:0000508	Ptosis	HP:0040282	ORPHA:457193
7994	KAT6A	HP:0000508	Ptosis	2/4	OMIM:616268
7994	KAT6A	HP:0000565	Esotropia	2/4	OMIM:616268
7994	KAT6A	HP:0000545	Myopia	2/5	OMIM:616268
8013	NR4A3	HP:0001442	Typified by somatic mosaicism	-	OMIM:612237
8013	NR4A3	HP:0006765	Chondrosarcoma	-	OMIM:612237
8021	NUP214	HP:0001290	Generalized hypotonia	2/3	OMIM:618426
8021	NUP214	HP:0001276	Hypertonia	1/3	OMIM:618426
8021	NUP214	HP:0001272	Cerebellar atrophy	-	OMIM:618426
8021	NUP214	HP:0001250	Seizure	3/3	OMIM:618426
8021	NUP214	HP:0001252	Hypotonia	1/3	OMIM:618426
8021	NUP214	HP:0001251	Ataxia	-	OMIM:618426
8021	NUP214	HP:0001263	Global developmental delay	3/3	OMIM:618426
8021	NUP214	HP:0001257	Spasticity	-	OMIM:618426
8021	NUP214	HP:0010982	Polygenic inheritance	-	OMIM:613065
8021	NUP214	HP:0003819	Death in childhood	2/3	OMIM:618426
8021	NUP214	HP:0001347	Hyperreflexia	1/3	OMIM:618426
8021	NUP214	HP:0000007	Autosomal recessive inheritance	-	OMIM:618426
8021	NUP214	HP:0000006	Autosomal dominant inheritance	-	OMIM:601626
8021	NUP214	HP:0001336	Myoclonus	-	OMIM:618426
8021	NUP214	HP:0002643	Neonatal respiratory distress	2/3	OMIM:618426
8021	NUP214	HP:0002783	Recurrent lower respiratory tract infections	1/3	OMIM:618426
8021	NUP214	HP:0001442	Typified by somatic mosaicism	-	OMIM:601626
8021	NUP214	HP:0001442	Typified by somatic mosaicism	-	OMIM:613065
8021	NUP214	HP:0002020	Gastroesophageal reflux	2/3	OMIM:618426
8021	NUP214	HP:0002033	Poor suck	1/3	OMIM:618426
8021	NUP214	HP:0002013	Vomiting	1/3	OMIM:618426
8021	NUP214	HP:0002098	Respiratory distress	-	OMIM:618426
8021	NUP214	HP:0002069	Bilateral tonic-clonic seizure	1/3	OMIM:618426
8021	NUP214	HP:0002059	Cerebral atrophy	-	OMIM:618426
8021	NUP214	HP:0002104	Apnea	3/3	OMIM:618426
8021	NUP214	HP:0002283	Global brain atrophy	1/3	OMIM:618426
8021	NUP214	HP:0011968	Feeding difficulties	3/3	OMIM:618426
8021	NUP214	HP:0004808	Acute myeloid leukemia	-	OMIM:601626
8021	NUP214	HP:0002376	Developmental regression	1/3	OMIM:618426
8021	NUP214	HP:0003676	Progressive	-	OMIM:618426
8021	NUP214	HP:0003623	Neonatal onset	2/3	OMIM:618426
8021	NUP214	HP:0040213	Hypopnea	1/3	OMIM:618426
8021	NUP214	HP:0000961	Cyanosis	1/3	OMIM:618426
8021	NUP214	HP:0000252	Microcephaly	3/3	OMIM:618426
8021	NUP214	HP:0001522	Death in infancy	1/3	OMIM:618426
8021	NUP214	HP:0001508	Failure to thrive	2/2	OMIM:618426
8021	NUP214	HP:0002902	Hyponatremia	3/3	OMIM:618426
8021	NUP214	HP:0002900	Hypokalemia	1/3	OMIM:618426
8021	NUP214	HP:0006721	Acute lymphoblastic leukemia	-	OMIM:613065
8021	NUP214	HP:0012510	Extra-axial cerebrospinal fluid accumulation	2/3	OMIM:618426
8022	LHX3	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:226307
8022	LHX3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8022	LHX3	HP:0001293	Cranial nerve compression	-	OMIM:131300
8022	LHX3	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:226307
8022	LHX3	HP:0001254	Lethargy	HP:0040282	ORPHA:226307
8022	LHX3	HP:0001252	Hypotonia	HP:0040283	ORPHA:226307
8022	LHX3	HP:0001252	Hypotonia	2/7	OMIM:615777
8022	LHX3	HP:0001249	Intellectual disability	-	OMIM:221750
8022	LHX3	HP:0001249	Intellectual disability	5/7	OMIM:615777
8022	LHX3	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:226307
8022	LHX3	HP:0001263	Global developmental delay	-	OMIM:615777
8022	LHX3	HP:0031098	Decreased thyroid-stimulating hormone level	HP:0040281	ORPHA:226307
8022	LHX3	HP:0002515	Waddling gait	54/102	OMIM:131300
8022	LHX3	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:226307
8022	LHX3	HP:0001382	Joint hypermobility	-	OMIM:615777
8022	LHX3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8022	LHX3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8022	LHX3	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:226307
8022	LHX3	HP:0008828	Delayed proximal femoral epiphyseal ossification	HP:0040282	ORPHA:226307
8022	LHX3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8022	LHX3	HP:0001324	Muscle weakness	40/96	OMIM:131300
8022	LHX3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8022	LHX3	HP:0000007	Autosomal recessive inheritance	-	OMIM:221750
8022	LHX3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8022	LHX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8022	LHX3	HP:0002650	Scoliosis	12/14	OMIM:131300
8022	LHX3	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:226307
8022	LHX3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8022	LHX3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8022	LHX3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8022	LHX3	HP:0025483	Abnormal circulating thyroglobulin concentration	-	ORPHA:226307
8022	LHX3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8022	LHX3	HP:0000158	Macroglossia	HP:0040282	ORPHA:226307
8022	LHX3	HP:0000175	Cleft palate	2/7	OMIM:615777
8022	LHX3	HP:0031218	Inappropriate antidiuretic hormone secretion	HP:0040283	ORPHA:226307
8022	LHX3	HP:0031219	Reduced radioactive iodine uptake	HP:0040281	ORPHA:226307
8022	LHX3	HP:0002019	Constipation	HP:0040282	ORPHA:226307
8022	LHX3	HP:0005990	Thyroid hypoplasia	HP:0040282	ORPHA:226307
8022	LHX3	HP:0004637	Decreased cervical spine mobility	HP:0040283	ORPHA:226307
8022	LHX3	HP:0011800	Midface retrusion	HP:0040283	ORPHA:226307
8022	LHX3	HP:0002045	Hypothermia	HP:0040282	ORPHA:226307
8022	LHX3	HP:0003388	Easy fatigability	36/76	OMIM:131300
8022	LHX3	HP:0011755	Ectopic posterior pituitary	HP:0040283	ORPHA:226307
8022	LHX3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8022	LHX3	HP:0011748	Adrenocorticotropic hormone deficiency	HP:0040283	ORPHA:231720
8022	LHX3	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:226307
8022	LHX3	HP:0003423	Thoracolumbar kyphoscoliosis	HP:0040281	ORPHA:231720
8022	LHX3	HP:0008245	Pituitary hypothyroidism	HP:0040281	ORPHA:226307
8022	LHX3	HP:0008245	Pituitary hypothyroidism	HP:0040281	ORPHA:231720
8022	LHX3	HP:0008213	Gonadotropin deficiency	-	OMIM:221750
8022	LHX3	HP:0008213	Gonadotropin deficiency	HP:0040281	ORPHA:231720
8022	LHX3	HP:0008202	Reduced circulating prolactin concentration	HP:0040282	ORPHA:226307
8022	LHX3	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:226307
8022	LHX3	HP:0010627	Anterior pituitary hypoplasia	-	OMIM:221750
8022	LHX3	HP:0010627	Anterior pituitary hypoplasia	HP:0040281	ORPHA:231720
8022	LHX3	HP:0003510	Severe short stature	7/7	OMIM:615777
8022	LHX3	HP:0002315	Headache	-	OMIM:131300
8022	LHX3	HP:0004976	Knee dislocation	6/7	OMIM:615777
8022	LHX3	HP:0009803	Short phalanx of finger	-	OMIM:615777
8022	LHX3	HP:0009763	Limb pain	63/92	OMIM:131300
8022	LHX3	HP:0003621	Juvenile onset	-	OMIM:131300
8022	LHX3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8022	LHX3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8022	LHX3	HP:6001056	Out-toeing	-	OMIM:131300
8022	LHX3	HP:0000651	Diplopia	-	OMIM:131300
8022	LHX3	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:226307
8022	LHX3	HP:0001956	Truncal obesity	2/7	OMIM:615777
8022	LHX3	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:226307
8022	LHX3	HP:0001903	Anemia	HP:0040283	OMIM:131300
8022	LHX3	HP:0010049	Short metacarpal	-	OMIM:615777
8022	LHX3	HP:0000678	Dental crowding	-	OMIM:615777
8022	LHX3	HP:0000670	Carious teeth	-	OMIM:131300
8022	LHX3	HP:0011304	Broad thumb	2/7	OMIM:615777
8022	LHX3	HP:0000668	Hypodontia	-	OMIM:615777
8022	LHX3	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:226307
8022	LHX3	HP:0000664	Synophrys	-	OMIM:615777
8022	LHX3	HP:0004322	Short stature	-	OMIM:221750
8022	LHX3	HP:0004322	Short stature	HP:0040281	ORPHA:231720
8022	LHX3	HP:0004396	Poor appetite	-	OMIM:131300
8022	LHX3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8022	LHX3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8022	LHX3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8022	LHX3	HP:0003026	Short long bone	7/7	OMIM:615777
8022	LHX3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8022	LHX3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8022	LHX3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8022	LHX3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8022	LHX3	HP:0000750	Delayed speech and language development	-	OMIM:615777
8022	LHX3	HP:0011461	Fetal onset	7/7	OMIM:615777
8022	LHX3	HP:0011437	Maternal autoimmune disease	-	ORPHA:226307
8022	LHX3	HP:0000774	Narrow chest	2/7	OMIM:615777
8022	LHX3	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:226307
8022	LHX3	HP:0000926	Platyspondyly	1/7	OMIM:615777
8022	LHX3	HP:0003180	Flat acetabular roof	-	OMIM:615777
8022	LHX3	HP:0004482	Relative macrocephaly	-	OMIM:615777
8022	LHX3	HP:0004491	Large posterior fontanelle	HP:0040282	ORPHA:226307
8022	LHX3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8022	LHX3	HP:0000871	Panhypopituitarism	HP:0040282	ORPHA:226307
8022	LHX3	HP:0000839	Pituitary dwarfism	HP:0040283	ORPHA:226307
8022	LHX3	HP:0000839	Pituitary dwarfism	-	OMIM:221750
8022	LHX3	HP:0000830	Anterior hypopituitarism	-	OMIM:221750
8022	LHX3	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:226307
8022	LHX3	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:221750
8022	LHX3	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040281	ORPHA:231720
8022	LHX3	HP:0000823	Delayed puberty	-	OMIM:131300
8022	LHX3	HP:0040075	Hypopituitarism	HP:0040282	ORPHA:226307
8022	LHX3	HP:0000894	Short clavicles	-	OMIM:615777
8022	LHX3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8022	LHX3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8022	LHX3	HP:0009381	Short finger	HP:0040283	ORPHA:226307
8022	LHX3	HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency	HP:0040281	ORPHA:231720
8022	LHX3	HP:0000286	Epicanthus	1/7	OMIM:615777
8022	LHX3	HP:0000282	Facial edema	HP:0040282	ORPHA:226307
8022	LHX3	HP:0000280	Coarse facial features	2/7	OMIM:615777
8022	LHX3	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:226307
8022	LHX3	HP:0002827	Hip dislocation	3/7	OMIM:615777
8022	LHX3	HP:0000252	Microcephaly	-	OMIM:615777
8022	LHX3	HP:0025502	Overweight	HP:0040283	ORPHA:226307
8022	LHX3	HP:0002857	Genu valgum	-	OMIM:131300
8022	LHX3	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:226307
8022	LHX3	HP:0001533	Slender build	-	OMIM:131300
8022	LHX3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8022	LHX3	HP:0001510	Growth delay	HP:0040282	ORPHA:226307
8022	LHX3	HP:0007807	Optic nerve compression	-	OMIM:131300
8022	LHX3	HP:0031507	Decreased circulating T4 concentration	HP:0040282	ORPHA:226307
8022	LHX3	HP:0012378	Fatigue	HP:0040282	ORPHA:226307
8022	LHX3	HP:0012368	Flat face	7/7	OMIM:615777
8022	LHX3	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:226307
8022	LHX3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8022	LHX3	HP:0002920	Decreased circulating ACTH concentration	HP:0040283	ORPHA:226307
8022	LHX3	HP:0000365	Hearing impairment	10/67	OMIM:131300
8022	LHX3	HP:0000343	Long philtrum	1/7	OMIM:615777
8022	LHX3	HP:0011001	Increased bone mineral density	-	OMIM:131300
8022	LHX3	HP:0000311	Round face	2/7	OMIM:615777
8022	LHX3	HP:0001662	Bradycardia	HP:0040282	ORPHA:226307
8022	LHX3	HP:0002970	Genu varum	-	OMIM:615777
8022	LHX3	HP:0000303	Mandibular prognathia	-	OMIM:131300
8022	LHX3	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:231720
8022	LHX3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:226307
8022	LHX3	HP:0000407	Sensorineural hearing impairment	-	OMIM:221750
8022	LHX3	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:226307
8022	LHX3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8022	LHX3	HP:0000470	Short neck	HP:0040281	ORPHA:231720
8022	LHX3	HP:0000470	Short neck	HP:0040283	ORPHA:226307
8022	LHX3	HP:0000470	Short neck	1/7	OMIM:615777
8022	LHX3	HP:0000470	Short neck	-	OMIM:221750
8022	LHX3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8022	LHX3	HP:0001763	Pes planus	1/7	OMIM:615777
8022	LHX3	HP:0001840	Metatarsus adductus	-	OMIM:615777
8022	LHX3	HP:0000520	Proptosis	2/4	OMIM:131300
8022	LHX3	HP:0000520	Proptosis	7/7	OMIM:615777
8022	LHX3	HP:0030344	Decreased circulating luteinizing hormone level	HP:0040283	ORPHA:226307
8022	LHX3	HP:0030341	Decreased circulating follicle stimulating hormone concentration	HP:0040283	ORPHA:226307
8022	LHX3	HP:0000592	Blue sclerae	2/7	OMIM:615777
8022	LHX3	HP:0011220	Prominent forehead	HP:0040283	ORPHA:226307
8022	LHX3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8022	LHX3	HP:0012514	Lower limb pain	4/4	OMIM:131300
8028	MLLT10	HP:0000006	Autosomal dominant inheritance	-	OMIM:601626
8028	MLLT10	HP:0001442	Typified by somatic mosaicism	-	OMIM:601626
8028	MLLT10	HP:0004808	Acute myeloid leukemia	-	OMIM:601626
8029	CUBN	HP:0410216	Abnormal blood 5-methyltetrahydrofolate level	HP:0040280	ORPHA:35858
8029	CUBN	HP:0001289	Confusion	-	OMIM:261100
8029	CUBN	HP:0001252	Hypotonia	HP:0040283	ORPHA:35858
8029	CUBN	HP:0000083	Renal insufficiency	0/39	OMIM:618884
8029	CUBN	HP:0000093	Proteinuria	1/1	OMIM:261100
8029	CUBN	HP:0000093	Proteinuria	HP:0040282	ORPHA:35858
8029	CUBN	HP:0000093	Proteinuria	39/39	OMIM:618884
8029	CUBN	HP:0000007	Autosomal recessive inheritance	-	OMIM:261100
8029	CUBN	HP:0000007	Autosomal recessive inheritance	-	OMIM:618884
8029	CUBN	HP:0032566	Oval macrocytosis	HP:0040282	ORPHA:35858
8029	CUBN	HP:0002721	Immunodeficiency	HP:0040284	ORPHA:35858
8029	CUBN	HP:0002019	Constipation	HP:0040283	ORPHA:35858
8029	CUBN	HP:0002013	Vomiting	HP:0040283	ORPHA:35858
8029	CUBN	HP:0100502	Decreased circulating vitamin B12 concentration	HP:0040280	ORPHA:35858
8029	CUBN	HP:0100502	Decreased circulating vitamin B12 concentration	-	OMIM:261100
8029	CUBN	HP:0003474	Somatic sensory dysfunction	-	OMIM:261100
8029	CUBN	HP:0003401	Paresthesia	-	OMIM:261100
8029	CUBN	HP:0200118	Malabsorption of Vitamin B12	HP:0040280	ORPHA:35858
8029	CUBN	HP:0200118	Malabsorption of Vitamin B12	-	OMIM:261100
8029	CUBN	HP:0020061	Abnormal hemoglobin concentration	HP:0040282	ORPHA:35858
8029	CUBN	HP:0004823	Anisopoikilocytosis	HP:0040282	ORPHA:35858
8029	CUBN	HP:0004821	Hypersegmentation of neutrophil nuclei	HP:0040281	ORPHA:35858
8029	CUBN	HP:0002376	Developmental regression	HP:0040283	ORPHA:35858
8029	CUBN	HP:0001972	Macrocytic anemia	HP:0040281	ORPHA:35858
8029	CUBN	HP:0001923	Reticulocytosis	HP:0040282	ORPHA:35858
8029	CUBN	HP:0004396	Poor appetite	HP:0040283	ORPHA:35858
8029	CUBN	HP:0031936	Delayed ability to walk	HP:0040283	ORPHA:35858
8029	CUBN	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:35858
8029	CUBN	HP:0000726	Dementia	-	OMIM:261100
8029	CUBN	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:35858
8029	CUBN	HP:0011463	Childhood onset	-	OMIM:261100
8029	CUBN	HP:0040087	Abnormal blood folate concentration	0/1	OMIM:261100
8029	CUBN	HP:0000980	Pallor	HP:0040282	ORPHA:35858
8029	CUBN	HP:0000206	Glossitis	HP:0040283	ORPHA:35858
8029	CUBN	HP:0001508	Failure to thrive	HP:0040283	ORPHA:35858
8029	CUBN	HP:0002907	Microscopic hematuria	1/1	OMIM:261100
8029	CUBN	HP:0001649	Tachycardia	HP:0040283	ORPHA:35858
8029	CUBN	HP:0030318	Angular cheilitis	HP:0040283	ORPHA:35858
8029	CUBN	HP:0001824	Weight loss	HP:0040283	ORPHA:35858
8029	CUBN	HP:0012592	Albuminuria	39/39	OMIM:618884
8029	CUBN	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:35858
8029	CUBN	HP:0001889	Megaloblastic anemia	HP:0040281	ORPHA:35858
8029	CUBN	HP:0001889	Megaloblastic anemia	1/1	OMIM:261100
8029	CUBN	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:35858
8029	CUBN	HP:0001876	Pancytopenia	HP:0040283	ORPHA:35858
8029	CUBN	HP:0001875	Decreased total neutrophil count	HP:0040282	ORPHA:35858
8036	SHOC2	HP:0001156	Brachydactyly	HP:0040283	ORPHA:2701
8036	SHOC2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8036	SHOC2	HP:0001293	Cranial nerve compression	-	OMIM:131300
8036	SHOC2	HP:0001290	Generalized hypotonia	4/5	OMIM:607721
8036	SHOC2	HP:0001252	Hypotonia	2/7	OMIM:615777
8036	SHOC2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2701
8036	SHOC2	HP:0001249	Intellectual disability	27/32	OMIM:607721
8036	SHOC2	HP:0001249	Intellectual disability	5/7	OMIM:615777
8036	SHOC2	HP:0001263	Global developmental delay	5/5	OMIM:607721
8036	SHOC2	HP:0001263	Global developmental delay	-	OMIM:615777
8036	SHOC2	HP:0001231	Abnormal fingernail morphology	HP:0040283	ORPHA:2701
8036	SHOC2	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:2701
8036	SHOC2	HP:0002515	Waddling gait	54/102	OMIM:131300
8036	SHOC2	HP:0000081	Duplicated collecting system	1/4	OMIM:607721
8036	SHOC2	HP:0001382	Joint hypermobility	5/5	OMIM:607721
8036	SHOC2	HP:0001382	Joint hypermobility	-	OMIM:615777
8036	SHOC2	HP:0000023	Inguinal hernia	1/4	OMIM:607721
8036	SHOC2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8036	SHOC2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2701
8036	SHOC2	HP:0000028	Cryptorchidism	2/4	OMIM:607721
8036	SHOC2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8036	SHOC2	HP:0006191	Deep palmar crease	HP:0040283	OMIM:607721
8036	SHOC2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8036	SHOC2	HP:0001324	Muscle weakness	40/96	OMIM:131300
8036	SHOC2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8036	SHOC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8036	SHOC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
8036	SHOC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8036	SHOC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:607721
8036	SHOC2	HP:0002650	Scoliosis	12/14	OMIM:131300
8036	SHOC2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8036	SHOC2	HP:0002619	Varicose veins	-	OMIM:153400
8036	SHOC2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8036	SHOC2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8036	SHOC2	HP:0000179	Thick lower lip vermilion	HP:0040283	ORPHA:2701
8036	SHOC2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8036	SHOC2	HP:0000175	Cleft palate	5/39	OMIM:153400
8036	SHOC2	HP:0000175	Cleft palate	2/7	OMIM:615777
8036	SHOC2	HP:0000174	Abnormal palate morphology	HP:0040283	ORPHA:2701
8036	SHOC2	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2701
8036	SHOC2	HP:0002002	Deep philtrum	HP:0040282	ORPHA:2701
8036	SHOC2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	OMIM:607721
8036	SHOC2	HP:0003388	Easy fatigability	36/76	OMIM:131300
8036	SHOC2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8036	SHOC2	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:2701
8036	SHOC2	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
8036	SHOC2	HP:0002212	Curly hair	6/8	OMIM:607721
8036	SHOC2	HP:0002209	Sparse scalp hair	25/25	OMIM:607721
8036	SHOC2	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:2701
8036	SHOC2	HP:0009743	Distichiasis	42/42	OMIM:153400
8036	SHOC2	HP:0007018	Attention deficit hyperactivity disorder	1/1	OMIM:607721
8036	SHOC2	HP:0011974	Myelofibrosis	1/5	OMIM:607721
8036	SHOC2	HP:0011968	Feeding difficulties	3/5	OMIM:607721
8036	SHOC2	HP:0003510	Severe short stature	7/7	OMIM:615777
8036	SHOC2	HP:0001028	Hemangioma	2/5	OMIM:607721
8036	SHOC2	HP:0001004	Lymphedema	-	OMIM:153400
8036	SHOC2	HP:0002315	Headache	-	OMIM:131300
8036	SHOC2	HP:0004976	Knee dislocation	6/7	OMIM:615777
8036	SHOC2	HP:0001003	Multiple lentigines	2/8	OMIM:607721
8036	SHOC2	HP:0100658	Cellulitis	2/6	OMIM:153400
8036	SHOC2	HP:0009811	Abnormality of the elbow	HP:0040283	ORPHA:2701
8036	SHOC2	HP:0009803	Short phalanx of finger	-	OMIM:615777
8036	SHOC2	HP:0032152	Keratosis pilaris	8/25	OMIM:607721
8036	SHOC2	HP:0009763	Limb pain	63/92	OMIM:131300
8036	SHOC2	HP:0003621	Juvenile onset	-	OMIM:131300
8036	SHOC2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8036	SHOC2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8036	SHOC2	HP:6001056	Out-toeing	-	OMIM:131300
8036	SHOC2	HP:0000651	Diplopia	-	OMIM:131300
8036	SHOC2	HP:0000613	Photophobia	10/49	OMIM:153400
8036	SHOC2	HP:0001956	Truncal obesity	2/7	OMIM:615777
8036	SHOC2	HP:0001928	Abnormality of coagulation	9/31	OMIM:607721
8036	SHOC2	HP:0001903	Anemia	HP:0040283	OMIM:131300
8036	SHOC2	HP:0010049	Short metacarpal	-	OMIM:615777
8036	SHOC2	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
8036	SHOC2	HP:0000678	Dental crowding	-	OMIM:615777
8036	SHOC2	HP:0000656	Ectropion	2/43	OMIM:153400
8036	SHOC2	HP:0000670	Carious teeth	-	OMIM:131300
8036	SHOC2	HP:0000670	Carious teeth	HP:0040283	ORPHA:2701
8036	SHOC2	HP:0011304	Broad thumb	2/7	OMIM:615777
8036	SHOC2	HP:0000668	Hypodontia	-	OMIM:615777
8036	SHOC2	HP:0000664	Synophrys	-	OMIM:615777
8036	SHOC2	HP:0004322	Short stature	HP:0040281	ORPHA:2701
8036	SHOC2	HP:0004322	Short stature	8/8	OMIM:607721
8036	SHOC2	HP:0004396	Poor appetite	-	OMIM:131300
8036	SHOC2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8036	SHOC2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8036	SHOC2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8036	SHOC2	HP:0003011	Abnormality of the musculature	-	OMIM:153400
8036	SHOC2	HP:0003026	Short long bone	7/7	OMIM:615777
8036	SHOC2	HP:0031936	Delayed ability to walk	7/8	OMIM:607721
8036	SHOC2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8036	SHOC2	HP:0000752	Hyperactivity	14/32	OMIM:607721
8036	SHOC2	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:2701
8036	SHOC2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8036	SHOC2	HP:0000766	Abnormal sternum morphology	17/32	OMIM:607721
8036	SHOC2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8036	SHOC2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8036	SHOC2	HP:0000750	Delayed speech and language development	-	OMIM:615777
8036	SHOC2	HP:0011461	Fetal onset	7/7	OMIM:615777
8036	SHOC2	HP:0000774	Narrow chest	2/7	OMIM:615777
8036	SHOC2	HP:0003196	Short nose	HP:0040281	ORPHA:2701
8036	SHOC2	HP:0000926	Platyspondyly	1/7	OMIM:615777
8036	SHOC2	HP:0003180	Flat acetabular roof	-	OMIM:615777
8036	SHOC2	HP:0004482	Relative macrocephaly	8/8	OMIM:607721
8036	SHOC2	HP:0004482	Relative macrocephaly	-	OMIM:615777
8036	SHOC2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8036	SHOC2	HP:0012804	Corneal ulceration	-	OMIM:153400
8036	SHOC2	HP:0000823	Delayed puberty	-	OMIM:131300
8036	SHOC2	HP:0000894	Short clavicles	-	OMIM:615777
8036	SHOC2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8036	SHOC2	HP:0010310	Chylothorax	1/6	OMIM:153400
8036	SHOC2	HP:0000974	Hyperextensible skin	5/8	OMIM:607721
8036	SHOC2	HP:0000957	Cafe-au-lait spot	1/8	OMIM:607721
8036	SHOC2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8036	SHOC2	HP:0000953	Hyperpigmentation of the skin	13/29	OMIM:607721
8036	SHOC2	HP:0000964	Eczematoid dermatitis	18/37	OMIM:607721
8036	SHOC2	HP:0000962	Hyperkeratosis	5/8	OMIM:607721
8036	SHOC2	HP:0008070	Sparse hair	8/8	OMIM:607721
8036	SHOC2	HP:0040169	Loose anagen hair	22/22	OMIM:607721
8036	SHOC2	HP:0008064	Ichthyosis	2/25	OMIM:607721
8036	SHOC2	HP:0011675	Arrhythmia	-	OMIM:153400
8036	SHOC2	HP:0000286	Epicanthus	HP:0040282	ORPHA:2701
8036	SHOC2	HP:0000286	Epicanthus	5/8	OMIM:607721
8036	SHOC2	HP:0000286	Epicanthus	1/7	OMIM:615777
8036	SHOC2	HP:0000280	Coarse facial features	2/7	OMIM:615777
8036	SHOC2	HP:0000256	Macrocephaly	27/30	OMIM:607721
8036	SHOC2	HP:0005108	Abnormal intervertebral disk morphology	HP:0040283	ORPHA:2701
8036	SHOC2	HP:0002827	Hip dislocation	3/7	OMIM:615777
8036	SHOC2	HP:0002808	Kyphosis	2/5	OMIM:153400
8036	SHOC2	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:2701
8036	SHOC2	HP:0000252	Microcephaly	-	OMIM:615777
8036	SHOC2	HP:0000218	High palate	6/8	OMIM:607721
8036	SHOC2	HP:0001561	Polyhydramnios	1/7	OMIM:607721
8036	SHOC2	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:2701
8036	SHOC2	HP:0002857	Genu valgum	-	OMIM:131300
8036	SHOC2	HP:0001533	Slender build	-	OMIM:131300
8036	SHOC2	HP:0000204	Cleft upper lip	-	OMIM:153400
8036	SHOC2	HP:0001508	Failure to thrive	8/8	OMIM:607721
8036	SHOC2	HP:0001520	Large for gestational age	3/5	OMIM:607721
8036	SHOC2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8036	SHOC2	HP:0007807	Optic nerve compression	-	OMIM:131300
8036	SHOC2	HP:0012368	Flat face	7/7	OMIM:615777
8036	SHOC2	HP:0001609	Hoarse voice	6/25	OMIM:607721
8036	SHOC2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8036	SHOC2	HP:0001611	Hypernasal speech	10/31	OMIM:607721
8036	SHOC2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2701
8036	SHOC2	HP:0000365	Hearing impairment	10/67	OMIM:131300
8036	SHOC2	HP:0000358	Posteriorly rotated ears	22/25	OMIM:607721
8036	SHOC2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:2701
8036	SHOC2	HP:0000369	Low-set ears	30/33	OMIM:607721
8036	SHOC2	HP:0000341	Narrow forehead	2/25	OMIM:607721
8036	SHOC2	HP:0000343	Long philtrum	1/7	OMIM:615777
8036	SHOC2	HP:0011001	Increased bone mineral density	-	OMIM:131300
8036	SHOC2	HP:0000337	Broad forehead	7/7	OMIM:607721
8036	SHOC2	HP:0000347	Micrognathia	2/5	OMIM:153400
8036	SHOC2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2701
8036	SHOC2	HP:0000316	Hypertelorism	26/33	OMIM:607721
8036	SHOC2	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
8036	SHOC2	HP:0000311	Round face	2/7	OMIM:615777
8036	SHOC2	HP:0001642	Pulmonic stenosis	15/37	OMIM:607721
8036	SHOC2	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:2701
8036	SHOC2	HP:0001659	Aortic regurgitation	1/4	OMIM:607721
8036	SHOC2	HP:0001629	Ventricular septal defect	3/33	OMIM:607721
8036	SHOC2	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
8036	SHOC2	HP:0002970	Genu varum	-	OMIM:615777
8036	SHOC2	HP:0001639	Hypertrophic cardiomyopathy	10/37	OMIM:607721
8036	SHOC2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:2701
8036	SHOC2	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
8036	SHOC2	HP:0002967	Cubitus valgus	2/8	OMIM:607721
8036	SHOC2	HP:0001631	Atrial septal defect	12/36	OMIM:607721
8036	SHOC2	HP:0000303	Mandibular prognathia	-	OMIM:131300
8036	SHOC2	HP:0000400	Macrotia	HP:0040282	ORPHA:2701
8036	SHOC2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8036	SHOC2	HP:0000483	Astigmatism	3/25	OMIM:607721
8036	SHOC2	HP:0000486	Strabismus	15/30	OMIM:607721
8036	SHOC2	HP:0000476	Cystic hygroma	2/43	OMIM:153400
8036	SHOC2	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
8036	SHOC2	HP:0000494	Downslanted palpebral fissures	4/8	OMIM:607721
8036	SHOC2	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2701
8036	SHOC2	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
8036	SHOC2	HP:0000470	Short neck	25/38	OMIM:607721
8036	SHOC2	HP:0000470	Short neck	1/7	OMIM:615777
8036	SHOC2	HP:0000465	Webbed neck	22/38	OMIM:607721
8036	SHOC2	HP:0000465	Webbed neck	HP:0040281	ORPHA:2701
8036	SHOC2	HP:0000465	Webbed neck	6/43	OMIM:153400
8036	SHOC2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8036	SHOC2	HP:0001763	Pes planus	1/7	OMIM:615777
8036	SHOC2	HP:0001840	Metatarsus adductus	-	OMIM:615777
8036	SHOC2	HP:0000527	Long eyelashes	4/4	OMIM:607721
8036	SHOC2	HP:0000520	Proptosis	2/4	OMIM:131300
8036	SHOC2	HP:0000520	Proptosis	7/7	OMIM:615777
8036	SHOC2	HP:0000509	Conjunctivitis	-	OMIM:153400
8036	SHOC2	HP:0000508	Ptosis	2/39	OMIM:153400
8036	SHOC2	HP:0000508	Ptosis	24/33	OMIM:607721
8036	SHOC2	HP:0001800	Hypoplastic toenails	HP:0040283	ORPHA:2701
8036	SHOC2	HP:0000592	Blue sclerae	2/7	OMIM:615777
8036	SHOC2	HP:0011220	Prominent forehead	26/29	OMIM:607721
8036	SHOC2	HP:0000568	Microphthalmia	1/6	OMIM:153400
8036	SHOC2	HP:0000540	Hypermetropia	4/25	OMIM:607721
8036	SHOC2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8036	SHOC2	HP:0012514	Lower limb pain	4/4	OMIM:131300
8036	SHOC2	HP:0000545	Myopia	3/25	OMIM:607721
8048	CSRP3	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
8048	CSRP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:612124
8048	CSRP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:607482
8048	CSRP3	HP:0033755	Increased left ventricular end-diastolic volume	6/6	OMIM:607482
8048	CSRP3	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
8048	CSRP3	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
8048	CSRP3	HP:0004757	Paroxysmal atrial fibrillation	1/8	OMIM:612124
8048	CSRP3	HP:0004756	Ventricular tachycardia	2/8	OMIM:612124
8048	CSRP3	HP:0003581	Adult onset	10/10	OMIM:607482
8048	CSRP3	HP:0003581	Adult onset	8/8	OMIM:612124
8048	CSRP3	HP:0012664	Reduced left ventricular ejection fraction	5/5	OMIM:607482
8048	CSRP3	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
8048	CSRP3	HP:0003198	Myopathy	HP:0040283	ORPHA:154
8048	CSRP3	HP:0034386	Reduced left ventricular endsystolic diameter	5/8	OMIM:612124
8048	CSRP3	HP:0000969	Edema	HP:0040282	ORPHA:154
8048	CSRP3	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
8048	CSRP3	HP:0005144	Ventricular septal hypertrophy	5/8	OMIM:612124
8048	CSRP3	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
8048	CSRP3	HP:0012378	Fatigue	HP:0040282	ORPHA:154
8048	CSRP3	HP:0001645	Sudden cardiac death	2/8	OMIM:612124
8048	CSRP3	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
8048	CSRP3	HP:0001644	Dilated cardiomyopathy	6/6	OMIM:607482
8048	CSRP3	HP:0001639	Hypertrophic cardiomyopathy	8/8	OMIM:612124
8048	CSRP3	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
8048	CSRP3	HP:0001635	Congestive heart failure	8/10	OMIM:607482
8048	CSRP3	HP:0006670	Impaired myocardial contractility	-	OMIM:607482
8048	CSRP3	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
8048	CSRP3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
8048	CSRP3	HP:0001706	Endocardial fibroelastosis	-	OMIM:607482
8050	PDHX	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:255182
8050	PDHX	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	HP:0040282	ORPHA:255182
8050	PDHX	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:255182
8050	PDHX	HP:0002416	Subependymal cysts	-	OMIM:245349
8050	PDHX	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:255182
8050	PDHX	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:255182
8050	PDHX	HP:0001250	Seizure	-	OMIM:245349
8050	PDHX	HP:0001250	Seizure	HP:0040282	ORPHA:255182
8050	PDHX	HP:0001251	Ataxia	-	OMIM:245349
8050	PDHX	HP:0001249	Intellectual disability	-	OMIM:245349
8050	PDHX	HP:0001264	Spastic diplegia	HP:0040282	ORPHA:255182
8050	PDHX	HP:0001263	Global developmental delay	-	OMIM:245349
8050	PDHX	HP:0001263	Global developmental delay	HP:0040283	ORPHA:255182
8050	PDHX	HP:0001258	Spastic paraplegia	-	OMIM:245349
8050	PDHX	HP:0003828	Variable expressivity	-	OMIM:245349
8050	PDHX	HP:0002510	Spastic tetraplegia	-	OMIM:245349
8050	PDHX	HP:0500231	Abnormal CSF pyruvate family amino acid concentration	HP:0040281	ORPHA:255182
8050	PDHX	HP:0001332	Dystonia	-	OMIM:245349
8050	PDHX	HP:0001338	Partial agenesis of the corpus callosum	-	OMIM:245349
8050	PDHX	HP:0000007	Autosomal recessive inheritance	-	OMIM:245349
8050	PDHX	HP:0001317	Abnormal cerebellum morphology	HP:0040284	ORPHA:255182
8050	PDHX	HP:0001319	Neonatal hypotonia	-	OMIM:245349
8050	PDHX	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:255182
8050	PDHX	HP:0003348	Hyperalaninemia	-	OMIM:245349
8050	PDHX	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:255182
8050	PDHX	HP:0002059	Cerebral atrophy	HP:0040284	ORPHA:255182
8050	PDHX	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:255182
8050	PDHX	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:255182
8050	PDHX	HP:0002134	Abnormal basal ganglia morphology	HP:0040283	ORPHA:255182
8050	PDHX	HP:0002273	Tetraparesis	HP:0040282	ORPHA:255182
8050	PDHX	HP:0003577	Congenital onset	-	OMIM:245349
8050	PDHX	HP:0003542	Increased circulating pyruvate concentration	-	OMIM:245349
8050	PDHX	HP:0007010	Poor fine motor coordination	-	OMIM:245349
8050	PDHX	HP:0007015	Poor gross motor coordination	-	OMIM:245349
8050	PDHX	HP:0002363	Abnormal brainstem morphology	HP:0040284	ORPHA:255182
8050	PDHX	HP:0002317	Unsteady gait	-	OMIM:245349
8050	PDHX	HP:0007109	Periventricular cysts	HP:0040283	ORPHA:255182
8050	PDHX	HP:0000648	Optic atrophy	-	OMIM:245349
8050	PDHX	HP:0001942	Metabolic acidosis	-	OMIM:245349
8050	PDHX	HP:0000767	Pectus excavatum	-	OMIM:245349
8050	PDHX	HP:0003128	Lactic acidosis	-	OMIM:245349
8050	PDHX	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:255182
8050	PDHX	HP:0000286	Epicanthus	-	OMIM:245349
8050	PDHX	HP:0000243	Trigonocephaly	-	OMIM:245349
8050	PDHX	HP:0000252	Microcephaly	-	OMIM:245349
8050	PDHX	HP:0000252	Microcephaly	HP:0040283	ORPHA:255182
8050	PDHX	HP:0000218	High palate	-	OMIM:245349
8050	PDHX	HP:0001508	Failure to thrive	HP:0040283	ORPHA:255182
8050	PDHX	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	-	OMIM:245349
8050	PDHX	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	HP:0040282	ORPHA:255182
8050	PDHX	HP:0000316	Hypertelorism	-	OMIM:245349
8050	PDHX	HP:0000496	Abnormality of eye movement	-	OMIM:245349
8074	FGF23	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8074	FGF23	HP:0001293	Cranial nerve compression	-	OMIM:131300
8074	FGF23	HP:0001252	Hypotonia	2/7	OMIM:615777
8074	FGF23	HP:0001249	Intellectual disability	5/7	OMIM:615777
8074	FGF23	HP:0001263	Global developmental delay	-	OMIM:615777
8074	FGF23	HP:0002515	Waddling gait	54/102	OMIM:131300
8074	FGF23	HP:0003829	Typified by incomplete penetrance	-	OMIM:193100
8074	FGF23	HP:0001382	Joint hypermobility	-	OMIM:615777
8074	FGF23	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8074	FGF23	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8074	FGF23	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8074	FGF23	HP:0001324	Muscle weakness	40/96	OMIM:131300
8074	FGF23	HP:0001324	Muscle weakness	HP:0040282	ORPHA:89937
8074	FGF23	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8074	FGF23	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8074	FGF23	HP:0000007	Autosomal recessive inheritance	-	OMIM:617993
8074	FGF23	HP:0000006	Autosomal dominant inheritance	-	OMIM:193100
8074	FGF23	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8074	FGF23	HP:0002653	Bone pain	HP:0040282	ORPHA:89937
8074	FGF23	HP:0002653	Bone pain	-	OMIM:193100
8074	FGF23	HP:0002650	Scoliosis	12/14	OMIM:131300
8074	FGF23	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8074	FGF23	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8074	FGF23	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8074	FGF23	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8074	FGF23	HP:0000164	Abnormality of the dentition	-	OMIM:193100
8074	FGF23	HP:0000175	Cleft palate	2/7	OMIM:615777
8074	FGF23	HP:0007618	Subcutaneous calcification	1/1	OMIM:617993
8074	FGF23	HP:0000117	Renal phosphate wasting	-	OMIM:193100
8074	FGF23	HP:0002748	Rickets	HP:0040282	ORPHA:89937
8074	FGF23	HP:0002748	Rickets	-	OMIM:193100
8074	FGF23	HP:0002749	Osteomalacia	HP:0040282	ORPHA:89937
8074	FGF23	HP:0002749	Osteomalacia	-	OMIM:193100
8074	FGF23	HP:0003324	Generalized muscle weakness	-	OMIM:193100
8074	FGF23	HP:0003388	Easy fatigability	36/76	OMIM:131300
8074	FGF23	HP:0100512	Decreased circulating vitamin D concentration	HP:0040282	ORPHA:89937
8074	FGF23	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8074	FGF23	HP:0002150	Hypercalciuria	1/1	OMIM:617993
8074	FGF23	HP:0002148	Hypophosphatemia	HP:0040281	ORPHA:89937
8074	FGF23	HP:0002148	Hypophosphatemia	-	OMIM:193100
8074	FGF23	HP:0003510	Severe short stature	7/7	OMIM:615777
8074	FGF23	HP:0002315	Headache	-	OMIM:131300
8074	FGF23	HP:0004976	Knee dislocation	6/7	OMIM:615777
8074	FGF23	HP:0009803	Short phalanx of finger	-	OMIM:615777
8074	FGF23	HP:0020110	Bone fracture	HP:0040283	ORPHA:89937
8074	FGF23	HP:0009763	Limb pain	63/92	OMIM:131300
8074	FGF23	HP:0003621	Juvenile onset	-	OMIM:131300
8074	FGF23	HP:0004912	Hypophosphatemic rickets	-	OMIM:193100
8074	FGF23	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8074	FGF23	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8074	FGF23	HP:6001056	Out-toeing	-	OMIM:131300
8074	FGF23	HP:0000651	Diplopia	-	OMIM:131300
8074	FGF23	HP:0001956	Truncal obesity	2/7	OMIM:615777
8074	FGF23	HP:0001903	Anemia	HP:0040283	OMIM:131300
8074	FGF23	HP:0010049	Short metacarpal	-	OMIM:615777
8074	FGF23	HP:0000678	Dental crowding	-	OMIM:615777
8074	FGF23	HP:0000670	Carious teeth	-	OMIM:131300
8074	FGF23	HP:0011304	Broad thumb	2/7	OMIM:615777
8074	FGF23	HP:0000668	Hypodontia	-	OMIM:615777
8074	FGF23	HP:0000664	Synophrys	-	OMIM:615777
8074	FGF23	HP:0004322	Short stature	-	OMIM:193100
8074	FGF23	HP:0004396	Poor appetite	-	OMIM:131300
8074	FGF23	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8074	FGF23	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8074	FGF23	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8074	FGF23	HP:0003026	Short long bone	7/7	OMIM:615777
8074	FGF23	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8074	FGF23	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8074	FGF23	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8074	FGF23	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8074	FGF23	HP:0000750	Delayed speech and language development	-	OMIM:615777
8074	FGF23	HP:0011461	Fetal onset	7/7	OMIM:615777
8074	FGF23	HP:0000774	Narrow chest	2/7	OMIM:615777
8074	FGF23	HP:0003109	Hyperphosphaturia	HP:0040281	ORPHA:89937
8074	FGF23	HP:0030757	Tooth abscess	HP:0040282	ORPHA:89937
8074	FGF23	HP:0000926	Platyspondyly	1/7	OMIM:615777
8074	FGF23	HP:0003180	Flat acetabular roof	-	OMIM:615777
8074	FGF23	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:89937
8074	FGF23	HP:0003155	Elevated circulating alkaline phosphatase concentration	-	OMIM:193100
8074	FGF23	HP:0004482	Relative macrocephaly	-	OMIM:615777
8074	FGF23	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8074	FGF23	HP:0000823	Delayed puberty	-	OMIM:131300
8074	FGF23	HP:0000894	Short clavicles	-	OMIM:615777
8074	FGF23	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8074	FGF23	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8074	FGF23	HP:0000286	Epicanthus	1/7	OMIM:615777
8074	FGF23	HP:0000280	Coarse facial features	2/7	OMIM:615777
8074	FGF23	HP:0002814	Abnormality of the lower limb	-	OMIM:193100
8074	FGF23	HP:0002827	Hip dislocation	3/7	OMIM:615777
8074	FGF23	HP:0000252	Microcephaly	-	OMIM:615777
8074	FGF23	HP:0002857	Genu valgum	-	OMIM:131300
8074	FGF23	HP:0001533	Slender build	-	OMIM:131300
8074	FGF23	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8074	FGF23	HP:0001510	Growth delay	HP:0040282	ORPHA:89937
8074	FGF23	HP:0007807	Optic nerve compression	-	OMIM:131300
8074	FGF23	HP:0012378	Fatigue	HP:0040282	ORPHA:89937
8074	FGF23	HP:0012368	Flat face	7/7	OMIM:615777
8074	FGF23	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8074	FGF23	HP:0002901	Hypocalcemia	HP:0040284	ORPHA:89937
8074	FGF23	HP:0000365	Hearing impairment	10/67	OMIM:131300
8074	FGF23	HP:0000343	Long philtrum	1/7	OMIM:615777
8074	FGF23	HP:0011001	Increased bone mineral density	-	OMIM:131300
8074	FGF23	HP:0002979	Bowing of the legs	HP:0040282	ORPHA:89937
8074	FGF23	HP:0000311	Round face	2/7	OMIM:615777
8074	FGF23	HP:0002986	Radial bowing	1/1	OMIM:617993
8074	FGF23	HP:0002970	Genu varum	-	OMIM:615777
8074	FGF23	HP:0000303	Mandibular prognathia	-	OMIM:131300
8074	FGF23	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8074	FGF23	HP:0000470	Short neck	1/7	OMIM:615777
8074	FGF23	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8074	FGF23	HP:0001763	Pes planus	1/7	OMIM:615777
8074	FGF23	HP:0012408	Medullary nephrocalcinosis	1/1	OMIM:617993
8074	FGF23	HP:0001840	Metatarsus adductus	-	OMIM:615777
8074	FGF23	HP:0000520	Proptosis	2/4	OMIM:131300
8074	FGF23	HP:0000520	Proptosis	7/7	OMIM:615777
8074	FGF23	HP:0000592	Blue sclerae	2/7	OMIM:615777
8074	FGF23	HP:0001891	Iron deficiency anemia	HP:0040282	ORPHA:89937
8074	FGF23	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8074	FGF23	HP:0012514	Lower limb pain	4/4	OMIM:131300
8076	MFAP5	HP:0009901	Crumpled ear	90/119	OMIM:121050
8076	MFAP5	HP:0001181	Adducted thumb	42/90	OMIM:121050
8076	MFAP5	HP:0001166	Arachnodactyly	2/6	OMIM:616166
8076	MFAP5	HP:0001166	Arachnodactyly	104/124	OMIM:121050
8076	MFAP5	HP:0001166	Arachnodactyly	124/197	OMIM:154700
8076	MFAP5	HP:0001166	Arachnodactyly	34/37	OMIM:182212
8076	MFAP5	HP:0001166	Arachnodactyly	6/15	OMIM:208050
8076	MFAP5	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0003745	Sporadic	-	OMIM:182212
8076	MFAP5	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
8076	MFAP5	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
8076	MFAP5	HP:0001297	Stroke	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0001290	Generalized hypotonia	-	OMIM:208050
8076	MFAP5	HP:0001290	Generalized hypotonia	-	OMIM:182212
8076	MFAP5	HP:0001270	Motor delay	-	OMIM:121050
8076	MFAP5	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
8076	MFAP5	HP:0001252	Hypotonia	26/37	OMIM:182212
8076	MFAP5	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
8076	MFAP5	HP:0001249	Intellectual disability	-	OMIM:182212
8076	MFAP5	HP:0001263	Global developmental delay	-	OMIM:182212
8076	MFAP5	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
8076	MFAP5	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
8076	MFAP5	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
8076	MFAP5	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
8076	MFAP5	HP:0000098	Tall stature	-	OMIM:154700
8076	MFAP5	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0001377	Limited elbow extension	94/109	OMIM:121050
8076	MFAP5	HP:0001377	Limited elbow extension	29/199	OMIM:154700
8076	MFAP5	HP:0001371	Flexion contracture	-	OMIM:208050
8076	MFAP5	HP:0001371	Flexion contracture	-	OMIM:154700
8076	MFAP5	HP:0001382	Joint hypermobility	1/1	OMIM:130050
8076	MFAP5	HP:0001382	Joint hypermobility	12/14	OMIM:208050
8076	MFAP5	HP:0001382	Joint hypermobility	11/53	OMIM:154700
8076	MFAP5	HP:0001382	Joint hypermobility	31/47	OMIM:182212
8076	MFAP5	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0000023	Inguinal hernia	11/11	OMIM:130050
8076	MFAP5	HP:0000023	Inguinal hernia	8/15	OMIM:208050
8076	MFAP5	HP:0000023	Inguinal hernia	19/34	OMIM:182212
8076	MFAP5	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0001363	Craniosynostosis	18/37	OMIM:182212
8076	MFAP5	HP:0000028	Cryptorchidism	1/1	OMIM:130050
8076	MFAP5	HP:0000028	Cryptorchidism	1/13	OMIM:182212
8076	MFAP5	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
8076	MFAP5	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
8076	MFAP5	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
8076	MFAP5	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
8076	MFAP5	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
8076	MFAP5	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
8076	MFAP5	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
8076	MFAP5	HP:0000006	Autosomal dominant inheritance	-	OMIM:616166
8076	MFAP5	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
8076	MFAP5	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
8076	MFAP5	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
8076	MFAP5	HP:0002650	Scoliosis	16/53	OMIM:154700
8076	MFAP5	HP:0002650	Scoliosis	11/15	OMIM:121050
8076	MFAP5	HP:0002650	Scoliosis	3/15	OMIM:208050
8076	MFAP5	HP:0002650	Scoliosis	23/37	OMIM:182212
8076	MFAP5	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0002647	Aortic dissection	1/58	OMIM:154700
8076	MFAP5	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0002619	Varicose veins	-	OMIM:130050
8076	MFAP5	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
8076	MFAP5	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
8076	MFAP5	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
8076	MFAP5	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
8076	MFAP5	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
8076	MFAP5	HP:0000189	Narrow palate	-	OMIM:182212
8076	MFAP5	HP:0000189	Narrow palate	-	OMIM:154700
8076	MFAP5	HP:0000193	Bifid uvula	0/14	OMIM:208050
8076	MFAP5	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
8076	MFAP5	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0012151	Hemothorax	3/4	OMIM:130050
8076	MFAP5	HP:0000139	Uterine prolapse	-	OMIM:130050
8076	MFAP5	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
8076	MFAP5	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
8076	MFAP5	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
8076	MFAP5	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
8076	MFAP5	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
8076	MFAP5	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
8076	MFAP5	HP:0002036	Hiatus hernia	-	OMIM:208050
8076	MFAP5	HP:0002007	Frontal bossing	-	OMIM:121050
8076	MFAP5	HP:0002007	Frontal bossing	-	OMIM:182212
8076	MFAP5	HP:0003302	Spondylolisthesis	-	OMIM:154700
8076	MFAP5	HP:0002097	Emphysema	8/9	OMIM:130050
8076	MFAP5	HP:0002097	Emphysema	HP:0040283	OMIM:154700
8076	MFAP5	HP:0030961	Microspherophakia	2/53	OMIM:154700
8076	MFAP5	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
8076	MFAP5	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
8076	MFAP5	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
8076	MFAP5	HP:0010499	Patellar subluxation	12/22	OMIM:121050
8076	MFAP5	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
8076	MFAP5	HP:0002140	Ischemic stroke	-	OMIM:208050
8076	MFAP5	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
8076	MFAP5	HP:0002107	Pneumothorax	2/2	OMIM:130050
8076	MFAP5	HP:0002107	Pneumothorax	6/53	OMIM:154700
8076	MFAP5	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0002105	Hemoptysis	6/10	OMIM:130050
8076	MFAP5	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
8076	MFAP5	HP:0003593	Infantile onset	5/16	OMIM:208050
8076	MFAP5	HP:0003577	Congenital onset	5/5	OMIM:121050
8076	MFAP5	HP:0003577	Congenital onset	12/26	OMIM:208050
8076	MFAP5	HP:0003581	Adult onset	8/8	OMIM:616166
8076	MFAP5	HP:0100718	Uterine rupture	-	OMIM:130050
8076	MFAP5	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
8076	MFAP5	HP:0004872	Incisional hernia	-	OMIM:154700
8076	MFAP5	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
8076	MFAP5	HP:0100775	Dural ectasia	112/140	OMIM:154700
8076	MFAP5	HP:0100775	Dural ectasia	3/4	OMIM:616166
8076	MFAP5	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0100749	Chest pain	1/2	OMIM:130050
8076	MFAP5	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
8076	MFAP5	HP:0002293	Alopecia of scalp	-	OMIM:130050
8076	MFAP5	HP:0034671	Knee contracture	7/14	OMIM:121050
8076	MFAP5	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
8076	MFAP5	HP:0010648	Dermal translucency	3/3	OMIM:130050
8076	MFAP5	HP:0007099	Chiari type I malformation	-	OMIM:182212
8076	MFAP5	HP:0025019	Arterial rupture	-	OMIM:130050
8076	MFAP5	HP:0001065	Striae distensae	11/53	OMIM:154700
8076	MFAP5	HP:0001030	Fragile skin	-	OMIM:130050
8076	MFAP5	HP:0001027	Soft, doughy skin	-	OMIM:208050
8076	MFAP5	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0100645	Cystocele	-	OMIM:130050
8076	MFAP5	HP:0001073	Cigarette-paper scars	-	OMIM:130050
8076	MFAP5	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
8076	MFAP5	HP:0001083	Ectopia lentis	119/251	OMIM:154700
8076	MFAP5	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
8076	MFAP5	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
8076	MFAP5	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
8076	MFAP5	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
8076	MFAP5	HP:0003623	Neonatal onset	3/16	OMIM:208050
8076	MFAP5	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
8076	MFAP5	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
8076	MFAP5	HP:0004933	Ascending aortic dissection	1/8	OMIM:616166
8076	MFAP5	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
8076	MFAP5	HP:0003621	Juvenile onset	2/16	OMIM:208050
8076	MFAP5	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
8076	MFAP5	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
8076	MFAP5	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
8076	MFAP5	HP:0001977	Abnormal thrombosis	-	OMIM:208050
8076	MFAP5	HP:0001903	Anemia	1/1	OMIM:130050
8076	MFAP5	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
8076	MFAP5	HP:0000678	Dental crowding	8/53	OMIM:154700
8076	MFAP5	HP:0000689	Dental malocclusion	-	OMIM:182212
8076	MFAP5	HP:0004322	Short stature	-	OMIM:130050
8076	MFAP5	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
8076	MFAP5	HP:0003088	Premature osteoarthritis	-	OMIM:154700
8076	MFAP5	HP:0003083	Dislocated radial head	5/37	OMIM:182212
8076	MFAP5	HP:0003066	Limited knee extension	38/45	OMIM:121050
8076	MFAP5	HP:0003042	Elbow dislocation	1/12	OMIM:121050
8076	MFAP5	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
8076	MFAP5	HP:0005684	Distal arthrogryposis	-	OMIM:121050
8076	MFAP5	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
8076	MFAP5	HP:0000767	Pectus excavatum	2/14	OMIM:121050
8076	MFAP5	HP:0000767	Pectus excavatum	2/8	OMIM:616166
8076	MFAP5	HP:0000767	Pectus excavatum	1/4	OMIM:130050
8076	MFAP5	HP:0000767	Pectus excavatum	3/15	OMIM:208050
8076	MFAP5	HP:0000767	Pectus excavatum	44/146	OMIM:154700
8076	MFAP5	HP:0000767	Pectus excavatum	-	OMIM:182212
8076	MFAP5	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0000768	Pectus carinatum	4/14	OMIM:121050
8076	MFAP5	HP:0000768	Pectus carinatum	2/15	OMIM:208050
8076	MFAP5	HP:0000768	Pectus carinatum	1/8	OMIM:616166
8076	MFAP5	HP:0000768	Pectus carinatum	58/146	OMIM:154700
8076	MFAP5	HP:0000768	Pectus carinatum	-	OMIM:182212
8076	MFAP5	HP:0012727	Thoracic aortic aneurysm	-	OMIM:616166
8076	MFAP5	HP:0000704	Periodontitis	-	OMIM:130050
8076	MFAP5	HP:0011463	Childhood onset	1/16	OMIM:208050
8076	MFAP5	HP:0011462	Young adult onset	3/16	OMIM:208050
8076	MFAP5	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
8076	MFAP5	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
8076	MFAP5	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
8076	MFAP5	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
8076	MFAP5	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
8076	MFAP5	HP:0030799	Scaphocephaly	-	OMIM:121050
8076	MFAP5	HP:0003199	Decreased muscle mass	-	OMIM:154700
8076	MFAP5	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
8076	MFAP5	HP:0000883	Thin ribs	-	OMIM:182212
8076	MFAP5	HP:0000822	Hypertension	-	OMIM:208050
8076	MFAP5	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
8076	MFAP5	HP:0000895	Lateral clavicle hook	-	OMIM:182212
8076	MFAP5	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
8076	MFAP5	HP:0034391	Elbow contracture	10/14	OMIM:121050
8076	MFAP5	HP:0003273	Hip contracture	32/121	OMIM:121050
8076	MFAP5	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
8076	MFAP5	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
8076	MFAP5	HP:0000978	Bruising susceptibility	-	OMIM:208050
8076	MFAP5	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0000977	Soft skin	7/15	OMIM:208050
8076	MFAP5	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
8076	MFAP5	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
8076	MFAP5	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
8076	MFAP5	HP:0000973	Cutis laxa	5/14	OMIM:208050
8076	MFAP5	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
8076	MFAP5	HP:0000963	Thin skin	4/13	OMIM:208050
8076	MFAP5	HP:0000938	Osteopenia	-	OMIM:121050
8076	MFAP5	HP:0000938	Osteopenia	-	OMIM:182212
8076	MFAP5	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
8076	MFAP5	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
8076	MFAP5	HP:0025586	Hypertropia	8/573	OMIM:154700
8076	MFAP5	HP:0000278	Retrognathia	-	OMIM:154700
8076	MFAP5	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0000260	Wide anterior fontanel	-	OMIM:182212
8076	MFAP5	HP:0000275	Narrow face	-	OMIM:154700
8076	MFAP5	HP:0000276	Long face	14/14	OMIM:208050
8076	MFAP5	HP:0000276	Long face	-	OMIM:154700
8076	MFAP5	HP:0000272	Malar flattening	9/14	OMIM:208050
8076	MFAP5	HP:0000272	Malar flattening	31/53	OMIM:154700
8076	MFAP5	HP:0000268	Dolichocephaly	-	OMIM:121050
8076	MFAP5	HP:0000268	Dolichocephaly	36/53	OMIM:154700
8076	MFAP5	HP:0000268	Dolichocephaly	28/37	OMIM:182212
8076	MFAP5	HP:0005136	Mitral annular calcification	-	OMIM:154700
8076	MFAP5	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0005110	Atrial fibrillation	2/8	OMIM:616166
8076	MFAP5	HP:0002816	Genu recurvatum	-	OMIM:182212
8076	MFAP5	HP:0002816	Genu recurvatum	-	OMIM:154700
8076	MFAP5	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
8076	MFAP5	HP:0000244	Brachyturricephaly	-	OMIM:182212
8076	MFAP5	HP:0000238	Hydrocephalus	13/37	OMIM:182212
8076	MFAP5	HP:0000252	Microcephaly	6/37	OMIM:182212
8076	MFAP5	HP:0000248	Brachycephaly	-	OMIM:121050
8076	MFAP5	HP:0000218	High palate	2/5	OMIM:616166
8076	MFAP5	HP:0000218	High palate	34/53	OMIM:154700
8076	MFAP5	HP:0000218	High palate	30/102	OMIM:121050
8076	MFAP5	HP:0000218	High palate	5/13	OMIM:208050
8076	MFAP5	HP:0000218	High palate	30/37	OMIM:182212
8076	MFAP5	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
8076	MFAP5	HP:0000233	Thin vermilion border	-	OMIM:130050
8076	MFAP5	HP:0030009	Cervical insufficiency	-	OMIM:130050
8076	MFAP5	HP:0002857	Genu valgum	4/37	OMIM:182212
8076	MFAP5	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
8076	MFAP5	HP:0001537	Umbilical hernia	-	OMIM:208050
8076	MFAP5	HP:0001537	Umbilical hernia	13/37	OMIM:182212
8076	MFAP5	HP:0031364	Ecchymosis	-	OMIM:130050
8076	MFAP5	HP:0001519	Disproportionate tall stature	-	OMIM:616166
8076	MFAP5	HP:0001519	Disproportionate tall stature	-	OMIM:121050
8076	MFAP5	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
8076	MFAP5	HP:0007800	Increased axial length of the globe	-	OMIM:154700
8076	MFAP5	HP:0012385	Camptodactyly	86/110	OMIM:121050
8076	MFAP5	HP:0012385	Camptodactyly	19/53	OMIM:154700
8076	MFAP5	HP:0012385	Camptodactyly	24/37	OMIM:182212
8076	MFAP5	HP:0000387	Absent earlobe	-	OMIM:130050
8076	MFAP5	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
8076	MFAP5	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
8076	MFAP5	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
8076	MFAP5	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
8076	MFAP5	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
8076	MFAP5	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
8076	MFAP5	HP:0006480	Premature loss of teeth	-	OMIM:130050
8076	MFAP5	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
8076	MFAP5	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
8076	MFAP5	HP:0000369	Low-set ears	32/37	OMIM:182212
8076	MFAP5	HP:0000343	Long philtrum	-	OMIM:208050
8076	MFAP5	HP:0002999	Patellar dislocation	2/20	OMIM:121050
8076	MFAP5	HP:0000347	Micrognathia	-	OMIM:154700
8076	MFAP5	HP:0000347	Micrognathia	26/94	OMIM:121050
8076	MFAP5	HP:0000347	Micrognathia	5/14	OMIM:208050
8076	MFAP5	HP:0000347	Micrognathia	33/37	OMIM:182212
8076	MFAP5	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
8076	MFAP5	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
8076	MFAP5	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
8076	MFAP5	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
8076	MFAP5	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0000316	Hypertelorism	6/16	OMIM:208050
8076	MFAP5	HP:0000316	Hypertelorism	28/37	OMIM:182212
8076	MFAP5	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
8076	MFAP5	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
8076	MFAP5	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
8076	MFAP5	HP:0001659	Aortic regurgitation	-	OMIM:208050
8076	MFAP5	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
8076	MFAP5	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
8076	MFAP5	HP:0001653	Mitral regurgitation	-	OMIM:121050
8076	MFAP5	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
8076	MFAP5	HP:0001629	Ventricular septal defect	-	OMIM:121050
8076	MFAP5	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
8076	MFAP5	HP:0001635	Congestive heart failure	-	OMIM:154700
8076	MFAP5	HP:0001631	Atrial septal defect	-	OMIM:121050
8076	MFAP5	HP:0001634	Mitral valve prolapse	1/8	OMIM:616166
8076	MFAP5	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
8076	MFAP5	HP:0001634	Mitral valve prolapse	-	OMIM:130050
8076	MFAP5	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
8076	MFAP5	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
8076	MFAP5	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
8076	MFAP5	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
8076	MFAP5	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
8076	MFAP5	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
8076	MFAP5	HP:0006687	Aortic tortuosity	2/5	OMIM:616166
8076	MFAP5	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
8076	MFAP5	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
8076	MFAP5	HP:0000400	Macrotia	7/15	OMIM:208050
8076	MFAP5	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
8076	MFAP5	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
8076	MFAP5	HP:0000483	Astigmatism	3/53	OMIM:154700
8076	MFAP5	HP:0000483	Astigmatism	5/15	OMIM:208050
8076	MFAP5	HP:0000486	Strabismus	110/573	OMIM:154700
8076	MFAP5	HP:0000486	Strabismus	17/37	OMIM:182212
8076	MFAP5	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
8076	MFAP5	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
8076	MFAP5	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
8076	MFAP5	HP:0000490	Deeply set eye	25/63	OMIM:154700
8076	MFAP5	HP:0000463	Anteverted nares	9/37	OMIM:182212
8076	MFAP5	HP:0001786	Narrow foot	33/53	OMIM:154700
8076	MFAP5	HP:0000470	Short neck	-	OMIM:121050
8076	MFAP5	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0001763	Pes planus	27/53	OMIM:154700
8076	MFAP5	HP:0001763	Pes planus	-	OMIM:182212
8076	MFAP5	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
8076	MFAP5	HP:0001765	Hammertoe	-	OMIM:154700
8076	MFAP5	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
8076	MFAP5	HP:0000418	Narrow nasal ridge	-	OMIM:130050
8076	MFAP5	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
8076	MFAP5	HP:0001762	Talipes equinovarus	-	OMIM:130050
8076	MFAP5	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
8076	MFAP5	HP:0001761	Pes cavus	49/146	OMIM:154700
8076	MFAP5	HP:0000518	Cataract	118/199	OMIM:154700
8076	MFAP5	HP:0001840	Metatarsus adductus	-	OMIM:121050
8076	MFAP5	HP:0001840	Metatarsus adductus	-	OMIM:182212
8076	MFAP5	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
8076	MFAP5	HP:0001842	Foot acroosteolysis	-	OMIM:130050
8076	MFAP5	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
8076	MFAP5	HP:0000520	Proptosis	29/37	OMIM:182212
8076	MFAP5	HP:0000506	Telecanthus	-	OMIM:182212
8076	MFAP5	HP:0000508	Ptosis	16/37	OMIM:182212
8076	MFAP5	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
8076	MFAP5	HP:0000501	Glaucoma	29/625	OMIM:154700
8076	MFAP5	HP:0000581	Blepharophimosis	-	OMIM:208050
8076	MFAP5	HP:0000577	Exotropia	72/626	OMIM:154700
8076	MFAP5	HP:0000586	Shallow orbits	13/37	OMIM:182212
8076	MFAP5	HP:0000563	Keratoconus	-	OMIM:130050
8076	MFAP5	HP:0000563	Keratoconus	3/14	OMIM:208050
8076	MFAP5	HP:0011220	Prominent forehead	17/37	OMIM:182212
8076	MFAP5	HP:0000565	Esotropia	12/573	OMIM:154700
8076	MFAP5	HP:0000541	Retinal detachment	-	OMIM:154700
8076	MFAP5	HP:0001883	Talipes	13/53	OMIM:154700
8076	MFAP5	HP:0000545	Myopia	-	OMIM:121050
8076	MFAP5	HP:0000545	Myopia	6/15	OMIM:208050
8076	MFAP5	HP:0000545	Myopia	93/251	OMIM:154700
8076	MFAP5	HP:0000545	Myopia	9/37	OMIM:182212
8085	KMT2D	HP:0001156	Brachydactyly	4/4	OMIM:147920
8085	KMT2D	HP:0001156	Brachydactyly	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0002474	Expressive language delay	1/9	OMIM:620186
8085	KMT2D	HP:0010943	Echogenic fetal bowel	2/9	OMIM:620186
8085	KMT2D	HP:0008625	Severe sensorineural hearing impairment	2/9	OMIM:620186
8085	KMT2D	HP:0025186	Marcus Gunn jaw winking synkinesis	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0008551	Microtia	2/9	OMIM:620186
8085	KMT2D	HP:0008551	Microtia	1/1	OMIM:147920
8085	KMT2D	HP:0001270	Motor delay	4/10	OMIM:147920
8085	KMT2D	HP:0001256	Intellectual disability, mild	5/13	OMIM:147920
8085	KMT2D	HP:0001250	Seizure	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0001250	Seizure	4/25	OMIM:147920
8085	KMT2D	HP:0001252	Hypotonia	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0001252	Hypotonia	22/32	OMIM:147920
8085	KMT2D	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2322
8085	KMT2D	HP:0001249	Intellectual disability	95/97	OMIM:147920
8085	KMT2D	HP:0001260	Dysarthria	1/1	OMIM:147920
8085	KMT2D	HP:0001263	Global developmental delay	40/42	OMIM:147920
8085	KMT2D	HP:0002561	Absent nipple	2/9	OMIM:620186
8085	KMT2D	HP:0002561	Absent nipple	5/12	OMIM:147920
8085	KMT2D	HP:0002557	Hypoplastic nipples	3/9	OMIM:620186
8085	KMT2D	HP:0002557	Hypoplastic nipples	5/12	OMIM:147920
8085	KMT2D	HP:0002566	Intestinal malrotation	-	OMIM:147920
8085	KMT2D	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0031087	Absent pubertal growth spurt	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/1	OMIM:147920
8085	KMT2D	HP:0001212	Prominent fingertip pads	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0001212	Prominent fingertip pads	31/39	OMIM:147920
8085	KMT2D	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:2322
8085	KMT2D	HP:0002553	Highly arched eyebrow	22/30	OMIM:147920
8085	KMT2D	HP:0000089	Renal hypoplasia	0/4	OMIM:147920
8085	KMT2D	HP:0000083	Renal insufficiency	1/1	OMIM:147920
8085	KMT2D	HP:0000086	Ectopic kidney	2/11	OMIM:147920
8085	KMT2D	HP:0000085	Horseshoe kidney	0/4	OMIM:147920
8085	KMT2D	HP:0000081	Duplicated collecting system	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0000081	Duplicated collecting system	0/3	OMIM:147920
8085	KMT2D	HP:0000076	Vesicoureteral reflux	0/3	OMIM:147920
8085	KMT2D	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0000073	Ureteral duplication	1/13	OMIM:147920
8085	KMT2D	HP:0000075	Renal duplication	2/13	OMIM:147920
8085	KMT2D	HP:0000074	Ureteropelvic junction obstruction	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0000074	Ureteropelvic junction obstruction	1/1	OMIM:147920
8085	KMT2D	HP:0001374	Congenital hip dislocation	6/23	OMIM:147920
8085	KMT2D	HP:0001373	Joint dislocation	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0001373	Joint dislocation	13/40	OMIM:147920
8085	KMT2D	HP:0000054	Micropenis	-	OMIM:147920
8085	KMT2D	HP:0001385	Hip dysplasia	3/3	OMIM:147920
8085	KMT2D	HP:0001382	Joint hypermobility	5/19	OMIM:147920
8085	KMT2D	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0000047	Hypospadias	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0000023	Inguinal hernia	0/6	OMIM:147920
8085	KMT2D	HP:0001363	Craniosynostosis	1/1	OMIM:147920
8085	KMT2D	HP:0000034	Hydrocele testis	1/9	OMIM:620186
8085	KMT2D	HP:0000028	Cryptorchidism	1/1	OMIM:147920
8085	KMT2D	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:2322
8085	KMT2D	HP:0008897	Postnatal growth retardation	10/14	OMIM:147920
8085	KMT2D	HP:0008872	Feeding difficulties in infancy	32/36	OMIM:147920
8085	KMT2D	HP:0007477	Abnormal dermatoglyphics	HP:0040281	ORPHA:2322
8085	KMT2D	HP:0000003	Multicystic kidney dysplasia	1/14	OMIM:147920
8085	KMT2D	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
8085	KMT2D	HP:0000006	Autosomal dominant inheritance	-	OMIM:620186
8085	KMT2D	HP:0000006	Autosomal dominant inheritance	-	OMIM:147920
8085	KMT2D	HP:0002650	Scoliosis	9/35	OMIM:147920
8085	KMT2D	HP:0002650	Scoliosis	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0000179	Thick lower lip vermilion	4/4	OMIM:147920
8085	KMT2D	HP:0000193	Bifid uvula	1/9	OMIM:620186
8085	KMT2D	HP:0000193	Bifid uvula	2/3	OMIM:147920
8085	KMT2D	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0000164	Abnormality of the dentition	-	OMIM:147920
8085	KMT2D	HP:0000161	Median cleft upper lip	1/2	OMIM:147920
8085	KMT2D	HP:0001488	Bilateral ptosis	1/1	OMIM:147920
8085	KMT2D	HP:0000175	Cleft palate	40/69	OMIM:147920
8085	KMT2D	HP:0000175	Cleft palate	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0006335	Persistence of primary teeth	2/4	OMIM:147920
8085	KMT2D	HP:0007655	Eversion of lateral third of lower eyelids	HP:0040281	ORPHA:2322
8085	KMT2D	HP:0007655	Eversion of lateral third of lower eyelids	19/22	OMIM:147920
8085	KMT2D	HP:0410030	Cleft lip	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0008947	Floppy infant	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0002705	High, narrow palate	14/14	OMIM:147920
8085	KMT2D	HP:0000122	Unilateral renal agenesis	0/4	OMIM:147920
8085	KMT2D	HP:0000125	Pelvic kidney	0/4	OMIM:147920
8085	KMT2D	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0000126	Hydronephrosis	1/5	OMIM:147920
8085	KMT2D	HP:0000110	Renal dysplasia	0/4	OMIM:147920
8085	KMT2D	HP:0002719	Recurrent infections	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0002719	Recurrent infections	40/64	OMIM:147920
8085	KMT2D	HP:0002714	Downturned corners of mouth	1/9	OMIM:620186
8085	KMT2D	HP:0002720	Decreased circulating IgA concentration	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0002720	Decreased circulating IgA concentration	4/13	OMIM:147920
8085	KMT2D	HP:0002025	Anal stenosis	-	OMIM:147920
8085	KMT2D	HP:0002023	Anal atresia	1/6	OMIM:147920
8085	KMT2D	HP:0002024	Malabsorption	-	OMIM:147920
8085	KMT2D	HP:0002020	Gastroesophageal reflux	5/17	OMIM:147920
8085	KMT2D	HP:0002020	Gastroesophageal reflux	1/9	OMIM:620186
8085	KMT2D	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0002000	Short columella	HP:0040281	ORPHA:2322
8085	KMT2D	HP:0005990	Thyroid hypoplasia	1/9	OMIM:620186
8085	KMT2D	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:2322
8085	KMT2D	HP:0003316	Butterfly vertebrae	HP:0040281	ORPHA:2322
8085	KMT2D	HP:0003316	Butterfly vertebrae	1/1	OMIM:147920
8085	KMT2D	HP:0011800	Midface retrusion	2/2	OMIM:147920
8085	KMT2D	HP:0011800	Midface retrusion	1/9	OMIM:620186
8085	KMT2D	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0002092	Pulmonary arterial hypertension	1/9	OMIM:620186
8085	KMT2D	HP:0002092	Pulmonary arterial hypertension	3/10	OMIM:147920
8085	KMT2D	HP:0002079	Hypoplasia of the corpus callosum	0/6	OMIM:147920
8085	KMT2D	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0002100	Recurrent aspiration pneumonia	-	OMIM:147920
8085	KMT2D	HP:0004736	Crossed fused renal ectopia	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0004736	Crossed fused renal ectopia	-	OMIM:147920
8085	KMT2D	HP:0002162	Low posterior hairline	2/7	OMIM:147920
8085	KMT2D	HP:0008282	Unconjugated hyperbilirubinemia	1/9	OMIM:620186
8085	KMT2D	HP:0003593	Infantile onset	5/17	OMIM:147920
8085	KMT2D	HP:0003577	Congenital onset	9/10	OMIM:147920
8085	KMT2D	HP:0002205	Recurrent respiratory infections	1/9	OMIM:620186
8085	KMT2D	HP:0009748	Large earlobe	14/14	OMIM:147920
8085	KMT2D	HP:0008404	Nail dystrophy	1/9	OMIM:620186
8085	KMT2D	HP:0033328	Type II pneumocyte hyperplasia	1/1	OMIM:147920
8085	KMT2D	HP:0008348	Decreased circulating IgG2 concentration	1/13	OMIM:147920
8085	KMT2D	HP:0011968	Feeding difficulties	8/25	OMIM:147920
8085	KMT2D	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0010628	Facial palsy	1/9	OMIM:620186
8085	KMT2D	HP:0011950	Bronchiolitis	1/1	OMIM:147920
8085	KMT2D	HP:0003510	Severe short stature	11/13	OMIM:147920
8085	KMT2D	HP:0007099	Chiari type I malformation	0/10	OMIM:147920
8085	KMT2D	HP:0002384	Focal impaired awareness seizure	1/1	OMIM:147920
8085	KMT2D	HP:0001007	Hirsutism	-	OMIM:147920
8085	KMT2D	HP:0002353	EEG abnormality	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0008513	Bilateral conductive hearing impairment	1/9	OMIM:620186
8085	KMT2D	HP:0010804	Tented upper lip vermilion	1/1	OMIM:147920
8085	KMT2D	HP:0200055	Small hand	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0032132	Decreased circulating total IgG concentration	2/13	OMIM:147920
8085	KMT2D	HP:0009797	Cholesteatoma	1/6	OMIM:147920
8085	KMT2D	HP:0009796	Branchial cyst	1/9	OMIM:620186
8085	KMT2D	HP:0010751	Dimple chin	1/1	OMIM:147920
8085	KMT2D	HP:0009765	Low hanging columella	1/9	OMIM:620186
8085	KMT2D	HP:0008428	Vertebral clefting	HP:0040281	ORPHA:2322
8085	KMT2D	HP:0003623	Neonatal onset	6/13	OMIM:147920
8085	KMT2D	HP:0003621	Juvenile onset	4/14	OMIM:147920
8085	KMT2D	HP:0006870	Lobar holoprosencephaly	1/1	OMIM:147920
8085	KMT2D	HP:0004209	Clinodactyly of the 5th finger	6/20	OMIM:147920
8085	KMT2D	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
8085	KMT2D	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0000639	Nystagmus	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0000637	Long palpebral fissure	27/31	OMIM:147920
8085	KMT2D	HP:0000646	Amblyopia	1/9	OMIM:620186
8085	KMT2D	HP:0001973	Autoimmune thrombocytopenia	-	OMIM:147920
8085	KMT2D	HP:0000612	Iris coloboma	1/9	OMIM:620186
8085	KMT2D	HP:0001943	Hypoglycemia	1/6	OMIM:147920
8085	KMT2D	HP:0000609	Optic nerve hypoplasia	HP:0040284	ORPHA:2322
8085	KMT2D	HP:0000601	Hypotelorism	3/3	OMIM:147920
8085	KMT2D	HP:0011381	Aplasia of the semicircular canal	3/4	OMIM:147920
8085	KMT2D	HP:0010055	Broad hallux	1/9	OMIM:620186
8085	KMT2D	HP:0000677	Oligodontia	3/3	OMIM:147920
8085	KMT2D	HP:0000695	Natal tooth	1/9	OMIM:620186
8085	KMT2D	HP:0000691	Microdontia	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0000691	Microdontia	3/5	OMIM:147920
8085	KMT2D	HP:0000689	Dental malocclusion	1/4	OMIM:147920
8085	KMT2D	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0000687	Widely spaced teeth	1/4	OMIM:147920
8085	KMT2D	HP:0000659	Peters anomaly	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0000670	Carious teeth	1/9	OMIM:620186
8085	KMT2D	HP:0000668	Hypodontia	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0006988	Alobar holoprosencephaly	2/3	OMIM:147920
8085	KMT2D	HP:0004322	Short stature	1/9	OMIM:620186
8085	KMT2D	HP:0004322	Short stature	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0004322	Short stature	11/20	OMIM:147920
8085	KMT2D	HP:0006956	Lateral ventricle dilatation	1/1	OMIM:147920
8085	KMT2D	HP:0004383	Hypoplastic left heart	1/30	OMIM:147920
8085	KMT2D	HP:0034197	Third trimester onset	1/9	OMIM:620186
8085	KMT2D	HP:0034199	Late first trimester onset	1/9	OMIM:620186
8085	KMT2D	HP:0034198	Second trimester onset	1/9	OMIM:620186
8085	KMT2D	HP:0034198	Second trimester onset	2/2	OMIM:147920
8085	KMT2D	HP:0012732	Anorectal anomaly	HP:0040284	ORPHA:2322
8085	KMT2D	HP:0000750	Delayed speech and language development	10/12	OMIM:147920
8085	KMT2D	HP:0000750	Delayed speech and language development	1/9	OMIM:620186
8085	KMT2D	HP:0000729	Autistic behavior	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0011463	Childhood onset	6/14	OMIM:147920
8085	KMT2D	HP:0011461	Fetal onset	1/1	OMIM:147920
8085	KMT2D	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:2322
8085	KMT2D	HP:0003196	Short nose	2/2	OMIM:147920
8085	KMT2D	HP:0004467	Preauricular pit	2/9	OMIM:620186
8085	KMT2D	HP:0004467	Preauricular pit	-	OMIM:187500
8085	KMT2D	HP:0004467	Preauricular pit	6/12	OMIM:147920
8085	KMT2D	HP:0000851	Congenital hypothyroidism	2/9	OMIM:620186
8085	KMT2D	HP:0000851	Congenital hypothyroidism	3/6	OMIM:147920
8085	KMT2D	HP:0012806	Proboscis	1/2	OMIM:147920
8085	KMT2D	HP:0000829	Hypoparathyroidism	4/4	OMIM:147920
8085	KMT2D	HP:0000826	Precocious puberty	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040284	ORPHA:2322
8085	KMT2D	HP:0000821	Hypothyroidism	1/9	OMIM:620186
8085	KMT2D	HP:0000821	Hypothyroidism	4/4	OMIM:147920
8085	KMT2D	HP:0000824	Decreased response to growth hormone stimulation test	1/1	OMIM:147920
8085	KMT2D	HP:0010296	Ankyloglossia	1/9	OMIM:620186
8085	KMT2D	HP:0040019	Finger clinodactyly	10/10	OMIM:147920
8085	KMT2D	HP:0009237	Short 5th finger	HP:0040281	ORPHA:2322
8085	KMT2D	HP:0009237	Short 5th finger	16/16	OMIM:147920
8085	KMT2D	HP:0004502	Bilateral choanal atresia	4/9	OMIM:620186
8085	KMT2D	HP:0045075	Sparse eyebrow	1/9	OMIM:620186
8085	KMT2D	HP:0045075	Sparse eyebrow	4/8	OMIM:147920
8085	KMT2D	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0100267	Lip pit	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0010314	Premature thelarche	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0010314	Premature thelarche	-	OMIM:147920
8085	KMT2D	HP:0100272	Branchial sinus	2/4	OMIM:147920
8085	KMT2D	HP:0034323	Reduced circulating growth hormone concentration	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0011626	Scimitar anomaly	1/30	OMIM:147920
8085	KMT2D	HP:0011611	Interrupted aortic arch	1/30	OMIM:147920
8085	KMT2D	HP:0000957	Cafe-au-lait spot	-	OMIM:147920
8085	KMT2D	HP:0000954	Single transverse palmar crease	1/9	OMIM:620186
8085	KMT2D	HP:0000954	Single transverse palmar crease	2/3	OMIM:147920
8085	KMT2D	HP:0000960	Sacral dimple	6/12	OMIM:147920
8085	KMT2D	HP:0005819	Short middle phalanx of finger	HP:0040281	ORPHA:2322
8085	KMT2D	HP:0008070	Sparse hair	1/9	OMIM:620186
8085	KMT2D	HP:0000286	Epicanthus	1/6	OMIM:147920
8085	KMT2D	HP:0000286	Epicanthus	1/9	OMIM:620186
8085	KMT2D	HP:0000278	Retrognathia	1/1	OMIM:147920
8085	KMT2D	HP:0000289	Broad philtrum	1/9	OMIM:620186
8085	KMT2D	HP:0000275	Narrow face	1/9	OMIM:620186
8085	KMT2D	HP:0000268	Dolichocephaly	1/9	OMIM:620186
8085	KMT2D	HP:0002827	Hip dislocation	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0030084	Clinodactyly	1/9	OMIM:620186
8085	KMT2D	HP:0000238	Hydrocephalus	1/7	OMIM:147920
8085	KMT2D	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0000252	Microcephaly	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0000252	Microcephaly	7/18	OMIM:147920
8085	KMT2D	HP:0000219	Thin upper lip vermilion	7/10	OMIM:147920
8085	KMT2D	HP:0000219	Thin upper lip vermilion	3/9	OMIM:620186
8085	KMT2D	HP:0000218	High palate	6/7	OMIM:147920
8085	KMT2D	HP:0000218	High palate	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0000215	Thick upper lip vermilion	0/3	OMIM:147920
8085	KMT2D	HP:0001545	Anteriorly placed anus	1/1	OMIM:147920
8085	KMT2D	HP:0001561	Polyhydramnios	1/9	OMIM:620186
8085	KMT2D	HP:0001561	Polyhydramnios	1/2	OMIM:147920
8085	KMT2D	HP:0000233	Thin vermilion border	2/2	OMIM:147920
8085	KMT2D	HP:0030001	Lagophthalmos	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0001511	Intrauterine growth retardation	1/1	OMIM:147920
8085	KMT2D	HP:0001511	Intrauterine growth retardation	2/9	OMIM:620186
8085	KMT2D	HP:0001510	Growth delay	2/2	OMIM:147920
8085	KMT2D	HP:0001513	Obesity	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0001513	Obesity	1/1	OMIM:147920
8085	KMT2D	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0000378	Cupped ear	1/3	OMIM:147920
8085	KMT2D	HP:0000396	Overfolded helix	2/9	OMIM:620186
8085	KMT2D	HP:0000396	Overfolded helix	0/1	OMIM:147920
8085	KMT2D	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0006579	Prolonged neonatal jaundice	1/9	OMIM:620186
8085	KMT2D	HP:0005218	Anoperineal fistula	-	OMIM:147920
8085	KMT2D	HP:0002937	Hemivertebrae	HP:0040281	ORPHA:2322
8085	KMT2D	HP:0002943	Thoracic scoliosis	1/9	OMIM:620186
8085	KMT2D	HP:0002943	Thoracic scoliosis	1/1	OMIM:147920
8085	KMT2D	HP:0001612	Weak cry	1/1	OMIM:147920
8085	KMT2D	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0000365	Hearing impairment	22/43	OMIM:147920
8085	KMT2D	HP:0000356	Abnormality of the outer ear	HP:0040281	ORPHA:2322
8085	KMT2D	HP:0000358	Posteriorly rotated ears	1/6	OMIM:147920
8085	KMT2D	HP:0000369	Low-set ears	3/6	OMIM:147920
8085	KMT2D	HP:0000369	Low-set ears	2/9	OMIM:620186
8085	KMT2D	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0000337	Broad forehead	-	OMIM:187500
8085	KMT2D	HP:0001667	Right ventricular hypertrophy	1/9	OMIM:620186
8085	KMT2D	HP:0001667	Right ventricular hypertrophy	1/29	OMIM:147920
8085	KMT2D	HP:0001684	Secundum atrial septal defect	0/6	OMIM:147920
8085	KMT2D	HP:0001680	Coarctation of aorta	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0001680	Coarctation of aorta	4/36	OMIM:147920
8085	KMT2D	HP:0000348	High forehead	1/9	OMIM:620186
8085	KMT2D	HP:0000348	High forehead	6/11	OMIM:147920
8085	KMT2D	HP:0000347	Micrognathia	8/16	OMIM:147920
8085	KMT2D	HP:0000347	Micrognathia	2/9	OMIM:620186
8085	KMT2D	HP:0001650	Aortic valve stenosis	1/30	OMIM:147920
8085	KMT2D	HP:0000319	Smooth philtrum	3/3	OMIM:147920
8085	KMT2D	HP:0001647	Bicuspid aortic valve	1/20	OMIM:147920
8085	KMT2D	HP:0000316	Hypertelorism	2/7	OMIM:147920
8085	KMT2D	HP:0000316	Hypertelorism	2/9	OMIM:620186
8085	KMT2D	HP:0001643	Patent ductus arteriosus	5/45	OMIM:147920
8085	KMT2D	HP:0000324	Facial asymmetry	1/9	OMIM:620186
8085	KMT2D	HP:0001655	Patent foramen ovale	1/9	OMIM:620186
8085	KMT2D	HP:0001655	Patent foramen ovale	5/35	OMIM:147920
8085	KMT2D	HP:0001629	Ventricular septal defect	5/36	OMIM:147920
8085	KMT2D	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
8085	KMT2D	HP:0001636	Tetralogy of Fallot	0/20	OMIM:147920
8085	KMT2D	HP:0001631	Atrial septal defect	6/15	OMIM:147920
8085	KMT2D	HP:0001631	Atrial septal defect	1/9	OMIM:620186
8085	KMT2D	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0001633	Abnormal mitral valve morphology	0/20	OMIM:147920
8085	KMT2D	HP:0007925	Lacrimal duct aplasia	1/9	OMIM:620186
8085	KMT2D	HP:0031631	Subpleural honeycombing	1/1	OMIM:147920
8085	KMT2D	HP:0005359	Aplasia of the thymus	1/9	OMIM:620186
8085	KMT2D	HP:0410386	Decreased proportion of CD4-positive memory T cells	8/13	OMIM:147920
8085	KMT2D	HP:0005338	Sparse lateral eyebrow	HP:0040281	ORPHA:2322
8085	KMT2D	HP:0005338	Sparse lateral eyebrow	11/11	OMIM:147920
8085	KMT2D	HP:0000408	Progressive sensorineural hearing impairment	1/9	OMIM:620186
8085	KMT2D	HP:0000407	Sensorineural hearing impairment	6/6	OMIM:147920
8085	KMT2D	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0000403	Recurrent otitis media	14/21	OMIM:147920
8085	KMT2D	HP:0000405	Conductive hearing impairment	1/9	OMIM:620186
8085	KMT2D	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0000400	Macrotia	HP:0040281	ORPHA:2322
8085	KMT2D	HP:0000400	Macrotia	24/30	OMIM:147920
8085	KMT2D	HP:0001718	Mitral stenosis	0/6	OMIM:147920
8085	KMT2D	HP:0005280	Depressed nasal bridge	2/3	OMIM:147920
8085	KMT2D	HP:0005280	Depressed nasal bridge	2/9	OMIM:620186
8085	KMT2D	HP:0000486	Strabismus	6/24	OMIM:147920
8085	KMT2D	HP:0000486	Strabismus	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0000480	Retinal coloboma	0/1	OMIM:147920
8085	KMT2D	HP:0000482	Microcornea	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0000494	Downslanted palpebral fissures	4/4	OMIM:147920
8085	KMT2D	HP:0000494	Downslanted palpebral fissures	1/9	OMIM:620186
8085	KMT2D	HP:0001792	Small nail	1/9	OMIM:620186
8085	KMT2D	HP:0000463	Anteverted nares	3/3	OMIM:147920
8085	KMT2D	HP:0000457	Depressed nasal ridge	2/6	OMIM:147920
8085	KMT2D	HP:0000437	Depressed nasal tip	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0000437	Depressed nasal tip	38/49	OMIM:147920
8085	KMT2D	HP:0000453	Choanal atresia	2/9	OMIM:620186
8085	KMT2D	HP:0000453	Choanal atresia	8/8	OMIM:147920
8085	KMT2D	HP:0000452	Choanal stenosis	1/9	OMIM:620186
8085	KMT2D	HP:0000445	Wide nose	1/1	OMIM:147920
8085	KMT2D	HP:0001750	Single ventricle	0/2	OMIM:147920
8085	KMT2D	HP:0000414	Bulbous nose	1/9	OMIM:620186
8085	KMT2D	HP:0000411	Protruding ear	HP:0040281	ORPHA:2322
8085	KMT2D	HP:0000411	Protruding ear	3/3	OMIM:147920
8085	KMT2D	HP:0001741	Phimosis	0/1	OMIM:147920
8085	KMT2D	HP:0000410	Mixed hearing impairment	1/9	OMIM:620186
8085	KMT2D	HP:0000413	Atresia of the external auditory canal	1/9	OMIM:620186
8085	KMT2D	HP:0001744	Splenomegaly	1/8	OMIM:147920
8085	KMT2D	HP:0000431	Wide nasal bridge	14/17	OMIM:147920
8085	KMT2D	HP:0000431	Wide nasal bridge	1/9	OMIM:620186
8085	KMT2D	HP:0000430	Underdeveloped nasal alae	1/9	OMIM:620186
8085	KMT2D	HP:0000430	Underdeveloped nasal alae	4/6	OMIM:147920
8085	KMT2D	HP:0030434	Pilomatrixoma	HP:0040284	ORPHA:2322
8085	KMT2D	HP:0000527	Long eyelashes	HP:0040281	ORPHA:2322
8085	KMT2D	HP:0000527	Long eyelashes	3/7	OMIM:147920
8085	KMT2D	HP:0000520	Proptosis	-	OMIM:187500
8085	KMT2D	HP:0000506	Telecanthus	1/1	OMIM:147920
8085	KMT2D	HP:0000508	Ptosis	2/18	OMIM:147920
8085	KMT2D	HP:0000508	Ptosis	HP:0040282	ORPHA:2322
8085	KMT2D	HP:0012584	Bilateral renal hypoplasia	1/1	OMIM:147920
8085	KMT2D	HP:0000579	Nasolacrimal duct obstruction	1/1	OMIM:147920
8085	KMT2D	HP:0000592	Blue sclerae	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0000592	Blue sclerae	7/17	OMIM:147920
8085	KMT2D	HP:0011231	Prominent eyelashes	-	OMIM:147920
8085	KMT2D	HP:0000589	Coloboma	HP:0040283	ORPHA:2322
8085	KMT2D	HP:0000588	Optic disc coloboma	1/9	OMIM:620186
8085	KMT2D	HP:0030374	Decreased proportion of memory B cells	11/13	OMIM:147920
8085	KMT2D	HP:0011220	Prominent forehead	1/9	OMIM:620186
8085	KMT2D	HP:0000568	Microphthalmia	1/9	OMIM:620186
8085	KMT2D	HP:0000568	Microphthalmia	HP:0040284	ORPHA:2322
8085	KMT2D	HP:0001878	Hemolytic anemia	-	OMIM:147920
8086	AAAS	HP:0009916	Anisocoria	-	OMIM:231550
8086	AAAS	HP:0001278	Orthostatic hypotension	-	OMIM:231550
8086	AAAS	HP:0001252	Hypotonia	HP:0040283	ORPHA:869
8086	AAAS	HP:0001251	Ataxia	-	OMIM:231550
8086	AAAS	HP:0001251	Ataxia	HP:0040283	ORPHA:869
8086	AAAS	HP:0001249	Intellectual disability	-	OMIM:231550
8086	AAAS	HP:0001249	Intellectual disability	HP:0040283	ORPHA:869
8086	AAAS	HP:0001260	Dysarthria	-	OMIM:231550
8086	AAAS	HP:0001263	Global developmental delay	-	OMIM:231550
8086	AAAS	HP:0002571	Achalasia	HP:0040281	ORPHA:869
8086	AAAS	HP:0002571	Achalasia	17/17	OMIM:231550
8086	AAAS	HP:0007440	Generalized hyperpigmentation	HP:0040281	ORPHA:869
8086	AAAS	HP:0031078	Impaired cortisol response to corticotropin releasing hormone stimulation test	HP:0040282	ORPHA:869
8086	AAAS	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:869
8086	AAAS	HP:0001347	Hyperreflexia	-	OMIM:231550
8086	AAAS	HP:0007556	Plantar hyperkeratosis	HP:0040283	ORPHA:869
8086	AAAS	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:869
8086	AAAS	HP:0001324	Muscle weakness	-	OMIM:231550
8086	AAAS	HP:0000007	Autosomal recessive inheritance	-	OMIM:231550
8086	AAAS	HP:0002615	Hypotension	HP:0040282	ORPHA:869
8086	AAAS	HP:0002013	Vomiting	HP:0040282	ORPHA:869
8086	AAAS	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:869
8086	AAAS	HP:0010486	Abnormality of the hypothenar eminence	HP:0040283	ORPHA:869
8086	AAAS	HP:0008163	Decreased circulating cortisol level	HP:0040282	ORPHA:869
8086	AAAS	HP:0008163	Decreased circulating cortisol level	-	OMIM:231550
8086	AAAS	HP:0003487	Babinski sign	-	OMIM:231550
8086	AAAS	HP:0002173	Hypoglycemic seizures	HP:0040282	ORPHA:869
8086	AAAS	HP:0008259	Adrenocorticotropin receptor defect	-	OMIM:231550
8086	AAAS	HP:0007002	Motor axonal neuropathy	HP:0040283	ORPHA:869
8086	AAAS	HP:0007002	Motor axonal neuropathy	-	OMIM:231550
8086	AAAS	HP:0002376	Developmental regression	HP:0040283	ORPHA:869
8086	AAAS	HP:0003676	Progressive	-	OMIM:231550
8086	AAAS	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:869
8086	AAAS	HP:0003621	Juvenile onset	8/14	OMIM:231550
8086	AAAS	HP:0000649	Abnormality of visual evoked potentials	-	OMIM:231550
8086	AAAS	HP:0000648	Optic atrophy	HP:0040283	ORPHA:869
8086	AAAS	HP:0000648	Optic atrophy	-	OMIM:231550
8086	AAAS	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:869
8086	AAAS	HP:0004322	Short stature	-	OMIM:231550
8086	AAAS	HP:0004322	Short stature	HP:0040282	ORPHA:869
8086	AAAS	HP:0004319	Decreased circulating aldosterone concentration	HP:0040284	ORPHA:869
8086	AAAS	HP:0004319	Decreased circulating aldosterone concentration	-	OMIM:231550
8086	AAAS	HP:0012735	Cough	HP:0040282	ORPHA:869
8086	AAAS	HP:0011463	Childhood onset	4/14	OMIM:231550
8086	AAAS	HP:0011462	Young adult onset	2/14	OMIM:231550
8086	AAAS	HP:0003154	Increased circulating ACTH level	HP:0040282	ORPHA:869
8086	AAAS	HP:0000846	Adrenal insufficiency	HP:0040281	ORPHA:869
8086	AAAS	HP:0000846	Adrenal insufficiency	15/17	OMIM:231550
8086	AAAS	HP:0012804	Corneal ulceration	HP:0040283	ORPHA:869
8086	AAAS	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:231550
8086	AAAS	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:869
8086	AAAS	HP:0000953	Hyperpigmentation of the skin	-	OMIM:231550
8086	AAAS	HP:0000252	Microcephaly	-	OMIM:231550
8086	AAAS	HP:0000252	Microcephaly	HP:0040283	ORPHA:869
8086	AAAS	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:869
8086	AAAS	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:869
8086	AAAS	HP:0012332	Abnormal autonomic nervous system physiology	4/17	OMIM:231550
8086	AAAS	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:869
8086	AAAS	HP:0001761	Pes cavus	HP:0040283	ORPHA:869
8086	AAAS	HP:0000522	Alacrima	HP:0040281	ORPHA:869
8086	AAAS	HP:0000522	Alacrima	27/27	OMIM:231550
8086	AAAS	HP:0001824	Weight loss	HP:0040282	ORPHA:869
8086	AAAS	HP:0000505	Visual impairment	HP:0040283	ORPHA:869
8087	FXR1	HP:0003789	Minicore myopathy	-	OMIM:618823
8087	FXR1	HP:0020203	Z-band streaming	-	OMIM:618823
8087	FXR1	HP:0003701	Proximal muscle weakness	-	OMIM:618823
8087	FXR1	HP:0001270	Motor delay	4/4	OMIM:618822
8087	FXR1	HP:0001270	Motor delay	-	OMIM:618823
8087	FXR1	HP:0001284	Areflexia	1/4	OMIM:618822
8087	FXR1	HP:0001284	Areflexia	-	OMIM:618823
8087	FXR1	HP:0003803	Type 1 muscle fiber predominance	-	OMIM:618823
8087	FXR1	HP:0000050	Hypoplastic male external genitalia	-	OMIM:618823
8087	FXR1	HP:0000028	Cryptorchidism	1/3	OMIM:618822
8087	FXR1	HP:0000028	Cryptorchidism	-	OMIM:618823
8087	FXR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618822
8087	FXR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618823
8087	FXR1	HP:0001308	Tongue fasciculations	1/4	OMIM:618822
8087	FXR1	HP:0001308	Tongue fasciculations	-	OMIM:618823
8087	FXR1	HP:0001319	Neonatal hypotonia	4/4	OMIM:618822
8087	FXR1	HP:0001319	Neonatal hypotonia	4/4	OMIM:618823
8087	FXR1	HP:0003458	EMG: myopathic abnormalities	-	OMIM:618822
8087	FXR1	HP:0003687	Centrally nucleated skeletal muscle fibers	-	OMIM:618823
8087	FXR1	HP:0002304	Akinesia	1/4	OMIM:618822
8087	FXR1	HP:0004322	Short stature	1/3	OMIM:618822
8087	FXR1	HP:0001562	Oligohydramnios	1/4	OMIM:618822
8087	FXR1	HP:0001562	Oligohydramnios	-	OMIM:618823
8087	FXR1	HP:0001558	Decreased fetal movement	-	OMIM:618823
8087	FXR1	HP:0001522	Death in infancy	1/4	OMIM:618822
8087	FXR1	HP:0002870	Obstructive sleep apnea	3/3	OMIM:618822
8087	FXR1	HP:0002870	Obstructive sleep apnea	-	OMIM:618823
8087	FXR1	HP:0001513	Obesity	1/3	OMIM:618822
8087	FXR1	HP:0012548	Fatty replacement of skeletal muscle	-	OMIM:618823
8091	HMGA2	HP:0001159	Syndactyly	HP:0040282	ORPHA:397590
8091	HMGA2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8091	HMGA2	HP:0001293	Cranial nerve compression	-	OMIM:131300
8091	HMGA2	HP:0001270	Motor delay	HP:0040282	ORPHA:397590
8091	HMGA2	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:94063
8091	HMGA2	HP:0001252	Hypotonia	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0001252	Hypotonia	2/7	OMIM:615777
8091	HMGA2	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:99971
8091	HMGA2	HP:0001249	Intellectual disability	5/7	OMIM:615777
8091	HMGA2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:94063
8091	HMGA2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:397590
8091	HMGA2	HP:0001263	Global developmental delay	-	OMIM:615777
8091	HMGA2	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0002515	Waddling gait	54/102	OMIM:131300
8091	HMGA2	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0000045	Abnormal scrotum morphology	HP:0040282	ORPHA:397590
8091	HMGA2	HP:0001382	Joint hypermobility	-	OMIM:615777
8091	HMGA2	HP:0000048	Bifid scrotum	HP:0040283	ORPHA:397590
8091	HMGA2	HP:0000047	Hypospadias	HP:0040282	ORPHA:397590
8091	HMGA2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:397590
8091	HMGA2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8091	HMGA2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:397590
8091	HMGA2	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:397590
8091	HMGA2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8091	HMGA2	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:397590
8091	HMGA2	HP:0008872	Feeding difficulties in infancy	2/2	OMIM:618908
8091	HMGA2	HP:0001328	Specific learning disability	HP:0040281	ORPHA:94063
8091	HMGA2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8091	HMGA2	HP:0001324	Muscle weakness	40/96	OMIM:131300
8091	HMGA2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8091	HMGA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8091	HMGA2	HP:0001337	Tremor	HP:0040282	ORPHA:94063
8091	HMGA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618908
8091	HMGA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8091	HMGA2	HP:0002650	Scoliosis	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0002650	Scoliosis	12/14	OMIM:131300
8091	HMGA2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8091	HMGA2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8091	HMGA2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8091	HMGA2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8091	HMGA2	HP:0000175	Cleft palate	HP:0040282	ORPHA:397590
8091	HMGA2	HP:0000175	Cleft palate	2/7	OMIM:615777
8091	HMGA2	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:99971
8091	HMGA2	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0006266	Small placenta	HP:0040283	ORPHA:397590
8091	HMGA2	HP:0002750	Delayed skeletal maturation	1/1	OMIM:618908
8091	HMGA2	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0002007	Frontal bossing	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0002007	Frontal bossing	HP:0040283	ORPHA:397590
8091	HMGA2	HP:0002099	Asthma	HP:0040283	ORPHA:397590
8091	HMGA2	HP:0100555	Asymmetric growth	HP:0040283	ORPHA:397590
8091	HMGA2	HP:0003396	Syringomyelia	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0003388	Easy fatigability	36/76	OMIM:131300
8091	HMGA2	HP:0010442	Polydactyly	HP:0040283	ORPHA:397590
8091	HMGA2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8091	HMGA2	HP:0003561	Birth length less than 3rd percentile	1/1	OMIM:618908
8091	HMGA2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:397590
8091	HMGA2	HP:0003510	Severe short stature	7/7	OMIM:615777
8091	HMGA2	HP:0002315	Headache	-	OMIM:131300
8091	HMGA2	HP:0004976	Knee dislocation	6/7	OMIM:615777
8091	HMGA2	HP:0100607	Dysmenorrhea	HP:0040283	ORPHA:397590
8091	HMGA2	HP:0009803	Short phalanx of finger	-	OMIM:615777
8091	HMGA2	HP:0009763	Limb pain	63/92	OMIM:131300
8091	HMGA2	HP:0010739	Osteopoikilosis	HP:0040282	ORPHA:94063
8091	HMGA2	HP:0002308	Chiari malformation	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0003621	Juvenile onset	-	OMIM:131300
8091	HMGA2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8091	HMGA2	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:397590
8091	HMGA2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8091	HMGA2	HP:6001056	Out-toeing	-	OMIM:131300
8091	HMGA2	HP:0000651	Diplopia	-	OMIM:131300
8091	HMGA2	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:397590
8091	HMGA2	HP:0001956	Truncal obesity	2/7	OMIM:615777
8091	HMGA2	HP:0001903	Anemia	HP:0040283	OMIM:131300
8091	HMGA2	HP:0010049	Short metacarpal	-	OMIM:615777
8091	HMGA2	HP:0000678	Dental crowding	-	OMIM:615777
8091	HMGA2	HP:0000670	Carious teeth	-	OMIM:131300
8091	HMGA2	HP:0011304	Broad thumb	2/7	OMIM:615777
8091	HMGA2	HP:0000668	Hypodontia	-	OMIM:615777
8091	HMGA2	HP:0000668	Hypodontia	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0000664	Synophrys	-	OMIM:615777
8091	HMGA2	HP:0000664	Synophrys	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0004322	Short stature	HP:0040281	ORPHA:94063
8091	HMGA2	HP:0004396	Poor appetite	-	OMIM:131300
8091	HMGA2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8091	HMGA2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8091	HMGA2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8091	HMGA2	HP:0003026	Short long bone	7/7	OMIM:615777
8091	HMGA2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8091	HMGA2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8091	HMGA2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8091	HMGA2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8091	HMGA2	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:94063
8091	HMGA2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:397590
8091	HMGA2	HP:0000750	Delayed speech and language development	-	OMIM:615777
8091	HMGA2	HP:0011461	Fetal onset	7/7	OMIM:615777
8091	HMGA2	HP:0000774	Narrow chest	2/7	OMIM:615777
8091	HMGA2	HP:0000926	Platyspondyly	1/7	OMIM:615777
8091	HMGA2	HP:0003180	Flat acetabular roof	-	OMIM:615777
8091	HMGA2	HP:0004482	Relative macrocephaly	2/2	OMIM:618908
8091	HMGA2	HP:0004482	Relative macrocephaly	HP:0040281	ORPHA:397590
8091	HMGA2	HP:0004482	Relative macrocephaly	-	OMIM:615777
8091	HMGA2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8091	HMGA2	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:397590
8091	HMGA2	HP:0000823	Delayed puberty	-	OMIM:131300
8091	HMGA2	HP:0000894	Short clavicles	-	OMIM:615777
8091	HMGA2	HP:0009237	Short 5th finger	HP:0040282	ORPHA:397590
8091	HMGA2	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8091	HMGA2	HP:0100257	Ectrodactyly	HP:0040283	ORPHA:397590
8091	HMGA2	HP:0000957	Cafe-au-lait spot	HP:0040283	ORPHA:397590
8091	HMGA2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8091	HMGA2	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:94063
8091	HMGA2	HP:0000286	Epicanthus	1/7	OMIM:615777
8091	HMGA2	HP:0000280	Coarse facial features	2/7	OMIM:615777
8091	HMGA2	HP:0002827	Hip dislocation	3/7	OMIM:615777
8091	HMGA2	HP:0000252	Microcephaly	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0000252	Microcephaly	-	OMIM:615777
8091	HMGA2	HP:0012211	Abnormal renal physiology	HP:0040283	ORPHA:99971
8091	HMGA2	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:397590
8091	HMGA2	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0002857	Genu valgum	-	OMIM:131300
8091	HMGA2	HP:0001533	Slender build	-	OMIM:131300
8091	HMGA2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:94063
8091	HMGA2	HP:0001518	Small for gestational age	HP:0040281	ORPHA:397590
8091	HMGA2	HP:0001518	Small for gestational age	1/1	OMIM:618908
8091	HMGA2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:94063
8091	HMGA2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:397590
8091	HMGA2	HP:0001511	Intrauterine growth retardation	2/2	OMIM:618908
8091	HMGA2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8091	HMGA2	HP:0007807	Optic nerve compression	-	OMIM:131300
8091	HMGA2	HP:0012368	Flat face	7/7	OMIM:615777
8091	HMGA2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8091	HMGA2	HP:0000365	Hearing impairment	10/67	OMIM:131300
8091	HMGA2	HP:0000369	Low-set ears	HP:0040282	ORPHA:397590
8091	HMGA2	HP:0000343	Long philtrum	1/7	OMIM:615777
8091	HMGA2	HP:0011001	Increased bone mineral density	-	OMIM:131300
8091	HMGA2	HP:0000347	Micrognathia	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0000347	Micrognathia	HP:0040281	ORPHA:397590
8091	HMGA2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:94063
8091	HMGA2	HP:0000311	Round face	2/7	OMIM:615777
8091	HMGA2	HP:0000325	Triangular face	HP:0040281	ORPHA:397590
8091	HMGA2	HP:0000325	Triangular face	3/3	OMIM:618908
8091	HMGA2	HP:0000325	Triangular face	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:397590
8091	HMGA2	HP:0002970	Genu varum	-	OMIM:615777
8091	HMGA2	HP:0000303	Mandibular prognathia	-	OMIM:131300
8091	HMGA2	HP:0005288	Abnormal nostril morphology	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8091	HMGA2	HP:0000490	Deeply set eye	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0000470	Short neck	1/7	OMIM:615777
8091	HMGA2	HP:0030260	Microphallus	HP:0040283	ORPHA:397590
8091	HMGA2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8091	HMGA2	HP:0001763	Pes planus	1/7	OMIM:615777
8091	HMGA2	HP:0000445	Wide nose	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0001743	Abnormality of the spleen	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0001840	Metatarsus adductus	-	OMIM:615777
8091	HMGA2	HP:0000520	Proptosis	2/4	OMIM:131300
8091	HMGA2	HP:0000520	Proptosis	7/7	OMIM:615777
8091	HMGA2	HP:0001804	Hypoplastic fingernail	HP:0040283	ORPHA:397590
8091	HMGA2	HP:0000592	Blue sclerae	2/7	OMIM:615777
8091	HMGA2	HP:0011220	Prominent forehead	HP:0040281	ORPHA:397590
8091	HMGA2	HP:0011220	Prominent forehead	3/3	OMIM:618908
8091	HMGA2	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:94063
8091	HMGA2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8091	HMGA2	HP:0012514	Lower limb pain	4/4	OMIM:131300
8092	ALX1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:306542
8092	ALX1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8092	ALX1	HP:0001293	Cranial nerve compression	-	OMIM:131300
8092	ALX1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:306542
8092	ALX1	HP:0001252	Hypotonia	2/7	OMIM:615777
8092	ALX1	HP:0001249	Intellectual disability	1/1	OMIM:613456
8092	ALX1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:306542
8092	ALX1	HP:0001249	Intellectual disability	5/7	OMIM:615777
8092	ALX1	HP:0001263	Global developmental delay	-	OMIM:615777
8092	ALX1	HP:0002515	Waddling gait	54/102	OMIM:131300
8092	ALX1	HP:0001382	Joint hypermobility	-	OMIM:615777
8092	ALX1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8092	ALX1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8092	ALX1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8092	ALX1	HP:0001324	Muscle weakness	40/96	OMIM:131300
8092	ALX1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8092	ALX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613456
8092	ALX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8092	ALX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8092	ALX1	HP:0002650	Scoliosis	12/14	OMIM:131300
8092	ALX1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8092	ALX1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8092	ALX1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8092	ALX1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8092	ALX1	HP:0000175	Cleft palate	-	OMIM:613456
8092	ALX1	HP:0000175	Cleft palate	2/7	OMIM:615777
8092	ALX1	HP:0000175	Cleft palate	HP:0040282	ORPHA:306542
8092	ALX1	HP:0002006	Tessier cleft	HP:0040282	ORPHA:306542
8092	ALX1	HP:0002006	Tessier cleft	-	OMIM:613456
8092	ALX1	HP:0011803	Bifid nose	HP:0040282	ORPHA:306542
8092	ALX1	HP:0002057	Prominent glabella	3/3	OMIM:613456
8092	ALX1	HP:0003388	Easy fatigability	36/76	OMIM:131300
8092	ALX1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8092	ALX1	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:306542
8092	ALX1	HP:0002223	Absent eyebrow	1/1	OMIM:613456
8092	ALX1	HP:0003510	Severe short stature	7/7	OMIM:615777
8092	ALX1	HP:0002315	Headache	-	OMIM:131300
8092	ALX1	HP:0004976	Knee dislocation	6/7	OMIM:615777
8092	ALX1	HP:0009803	Short phalanx of finger	-	OMIM:615777
8092	ALX1	HP:0009763	Limb pain	63/92	OMIM:131300
8092	ALX1	HP:0003621	Juvenile onset	-	OMIM:131300
8092	ALX1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8092	ALX1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8092	ALX1	HP:0000636	Upper eyelid coloboma	3/3	OMIM:613456
8092	ALX1	HP:6001056	Out-toeing	-	OMIM:131300
8092	ALX1	HP:0000651	Diplopia	-	OMIM:131300
8092	ALX1	HP:0000625	Eyelid coloboma	HP:0040282	ORPHA:306542
8092	ALX1	HP:0001956	Truncal obesity	2/7	OMIM:615777
8092	ALX1	HP:0001903	Anemia	HP:0040283	OMIM:131300
8092	ALX1	HP:0010049	Short metacarpal	-	OMIM:615777
8092	ALX1	HP:0000678	Dental crowding	-	OMIM:615777
8092	ALX1	HP:0000653	Sparse eyelashes	1/1	OMIM:613456
8092	ALX1	HP:0000653	Sparse eyelashes	HP:0040282	ORPHA:306542
8092	ALX1	HP:0000670	Carious teeth	-	OMIM:131300
8092	ALX1	HP:0011304	Broad thumb	2/7	OMIM:615777
8092	ALX1	HP:0000668	Hypodontia	-	OMIM:615777
8092	ALX1	HP:0000664	Synophrys	-	OMIM:615777
8092	ALX1	HP:0006931	Pericallosal lipoma	HP:0040283	ORPHA:306542
8092	ALX1	HP:0004396	Poor appetite	-	OMIM:131300
8092	ALX1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8092	ALX1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8092	ALX1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8092	ALX1	HP:0003026	Short long bone	7/7	OMIM:615777
8092	ALX1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8092	ALX1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8092	ALX1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8092	ALX1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8092	ALX1	HP:0000750	Delayed speech and language development	-	OMIM:615777
8092	ALX1	HP:0011461	Fetal onset	7/7	OMIM:615777
8092	ALX1	HP:0000774	Narrow chest	2/7	OMIM:615777
8092	ALX1	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	HP:0040282	ORPHA:306542
8092	ALX1	HP:0004423	Cranium bifidum occultum	HP:0040283	ORPHA:306542
8092	ALX1	HP:0000926	Platyspondyly	1/7	OMIM:615777
8092	ALX1	HP:0003180	Flat acetabular roof	-	OMIM:615777
8092	ALX1	HP:0004482	Relative macrocephaly	-	OMIM:615777
8092	ALX1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8092	ALX1	HP:0000823	Delayed puberty	-	OMIM:131300
8092	ALX1	HP:0040019	Finger clinodactyly	HP:0040282	ORPHA:306542
8092	ALX1	HP:0000894	Short clavicles	-	OMIM:615777
8092	ALX1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8092	ALX1	HP:0045075	Sparse eyebrow	HP:0040282	ORPHA:306542
8092	ALX1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8092	ALX1	HP:0000286	Epicanthus	1/7	OMIM:615777
8092	ALX1	HP:0000286	Epicanthus	HP:0040282	ORPHA:306542
8092	ALX1	HP:0000280	Coarse facial features	2/7	OMIM:615777
8092	ALX1	HP:0002827	Hip dislocation	3/7	OMIM:615777
8092	ALX1	HP:0000252	Microcephaly	-	OMIM:615777
8092	ALX1	HP:0000248	Brachycephaly	3/3	OMIM:613456
8092	ALX1	HP:0002857	Genu valgum	-	OMIM:131300
8092	ALX1	HP:0001533	Slender build	-	OMIM:131300
8092	ALX1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8092	ALX1	HP:0007807	Optic nerve compression	-	OMIM:131300
8092	ALX1	HP:0000384	Preauricular skin tag	HP:0040282	ORPHA:306542
8092	ALX1	HP:0012368	Flat face	7/7	OMIM:615777
8092	ALX1	HP:0005258	Pectoral muscle hypoplasia/aplasia	HP:0040282	ORPHA:306542
8092	ALX1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8092	ALX1	HP:0000365	Hearing impairment	10/67	OMIM:131300
8092	ALX1	HP:0000358	Posteriorly rotated ears	3/3	OMIM:613456
8092	ALX1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:306542
8092	ALX1	HP:0000369	Low-set ears	3/3	OMIM:613456
8092	ALX1	HP:0000343	Long philtrum	1/7	OMIM:615777
8092	ALX1	HP:0011001	Increased bone mineral density	-	OMIM:131300
8092	ALX1	HP:0000349	Widow's peak	HP:0040282	ORPHA:306542
8092	ALX1	HP:0000316	Hypertelorism	3/3	OMIM:613456
8092	ALX1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:306542
8092	ALX1	HP:0000311	Round face	2/7	OMIM:615777
8092	ALX1	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:306542
8092	ALX1	HP:0002970	Genu varum	-	OMIM:615777
8092	ALX1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:306542
8092	ALX1	HP:0000303	Mandibular prognathia	-	OMIM:131300
8092	ALX1	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:306542
8092	ALX1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8092	ALX1	HP:0000470	Short neck	1/7	OMIM:615777
8092	ALX1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8092	ALX1	HP:0001763	Pes planus	1/7	OMIM:615777
8092	ALX1	HP:0000431	Wide nasal bridge	3/3	OMIM:613456
8092	ALX1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:306542
8092	ALX1	HP:0000430	Underdeveloped nasal alae	-	OMIM:613456
8092	ALX1	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:306542
8092	ALX1	HP:0005466	Hypoplasia of the frontal bone	HP:0040282	ORPHA:306542
8092	ALX1	HP:0000518	Cataract	HP:0040282	ORPHA:306542
8092	ALX1	HP:0001840	Metatarsus adductus	-	OMIM:615777
8092	ALX1	HP:0000520	Proptosis	2/4	OMIM:131300
8092	ALX1	HP:0000520	Proptosis	7/7	OMIM:615777
8092	ALX1	HP:0000508	Ptosis	HP:0040282	ORPHA:306542
8092	ALX1	HP:0000592	Blue sclerae	2/7	OMIM:615777
8092	ALX1	HP:0000568	Microphthalmia	3/3	OMIM:613456
8092	ALX1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:306542
8092	ALX1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8092	ALX1	HP:0012514	Lower limb pain	4/4	OMIM:131300
8100	IFT88	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
8100	IFT88	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
8100	IFT88	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
8100	IFT88	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
8100	IFT88	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
8100	IFT88	HP:0000618	Blindness	HP:0040281	ORPHA:791
8100	IFT88	HP:0000613	Photophobia	HP:0040281	ORPHA:791
8100	IFT88	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
8100	IFT88	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
8100	IFT88	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
8100	IFT88	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
8100	IFT88	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
8100	IFT88	HP:0030786	Photopsia	HP:0040283	ORPHA:791
8100	IFT88	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
8100	IFT88	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
8100	IFT88	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
8100	IFT88	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
8100	IFT88	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
8100	IFT88	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
8100	IFT88	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
8100	IFT88	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
8100	IFT88	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
8100	IFT88	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
8100	IFT88	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
8100	IFT88	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
8100	IFT88	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
8100	IFT88	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
8100	IFT88	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
8100	IFT88	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
8100	IFT88	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
8100	IFT88	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
8106	PABPN1	HP:0002460	Distal muscle weakness	-	OMIM:164300
8106	PABPN1	HP:0003701	Proximal muscle weakness	1/1	OMIM:164300
8106	PABPN1	HP:0001288	Gait disturbance	1/1	OMIM:164300
8106	PABPN1	HP:0001260	Dysarthria	-	OMIM:164300
8106	PABPN1	HP:0032342	Reduced forced expiratory volume in one second	HP:0040282	ORPHA:270
8106	PABPN1	HP:0003805	Rimmed vacuoles	HP:0040281	ORPHA:270
8106	PABPN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:164300
8106	PABPN1	HP:0000183	Tongue muscle weakness	HP:0040282	ORPHA:270
8106	PABPN1	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:270
8106	PABPN1	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:270
8106	PABPN1	HP:0002015	Dysphagia	HP:0040281	ORPHA:270
8106	PABPN1	HP:0002015	Dysphagia	3/7	OMIM:164300
8106	PABPN1	HP:0003302	Spondylolisthesis	HP:0040281	ORPHA:270
8106	PABPN1	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:270
8106	PABPN1	HP:0010535	Sleep apnea	HP:0040284	ORPHA:270
8106	PABPN1	HP:0003584	Late onset	6/6	OMIM:164300
8106	PABPN1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:270
8106	PABPN1	HP:0010628	Facial palsy	-	OMIM:164300
8106	PABPN1	HP:0003690	Limb muscle weakness	-	OMIM:164300
8106	PABPN1	HP:0003676	Progressive	-	OMIM:164300
8106	PABPN1	HP:0034045	Angulated muscle fibers	HP:0040282	ORPHA:270
8106	PABPN1	HP:6001011	Wet voice	HP:0040282	ORPHA:270
8106	PABPN1	HP:0000602	Ophthalmoplegia	HP:0040281	ORPHA:270
8106	PABPN1	HP:0004303	Abnormal muscle fiber morphology	HP:0040281	ORPHA:270
8106	PABPN1	HP:0003198	Myopathy	HP:0040281	ORPHA:270
8106	PABPN1	HP:0100304	Muscle fiber intranuclear inclusion bodies	HP:0040282	ORPHA:270
8106	PABPN1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:270
8106	PABPN1	HP:0003236	Elevated circulating creatine kinase concentration	0/1	OMIM:164300
8106	PABPN1	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:270
8106	PABPN1	HP:0003200	Ragged-red muscle fibers	0/1	OMIM:164300
8106	PABPN1	HP:0000298	Mask-like facies	HP:0040283	ORPHA:270
8106	PABPN1	HP:0000298	Mask-like facies	-	OMIM:164300
8106	PABPN1	HP:0007838	Progressive ptosis	6/6	OMIM:164300
8106	PABPN1	HP:0012378	Fatigue	HP:0040281	ORPHA:270
8106	PABPN1	HP:0001618	Dysphonia	HP:0040282	ORPHA:270
8106	PABPN1	HP:0001611	Hypernasal speech	1/1	OMIM:164300
8106	PABPN1	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:270
8106	PABPN1	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:270
8106	PABPN1	HP:0000467	Neck muscle weakness	-	OMIM:164300
8106	PABPN1	HP:0000508	Ptosis	1/1	OMIM:164300
8106	PABPN1	HP:0000508	Ptosis	HP:0040281	ORPHA:270
8106	PABPN1	HP:0012548	Fatty replacement of skeletal muscle	HP:0040282	ORPHA:270
8106	PABPN1	HP:0012531	Pain	HP:0040282	ORPHA:270
8111	GPR68	HP:0000007	Autosomal recessive inheritance	-	OMIM:617217
8111	GPR68	HP:0006285	Enamel hypomineralization	-	OMIM:617217
8111	GPR68	HP:0009102	Anterior open-bite malocclusion	1/10	OMIM:617217
8111	GPR68	HP:0000705	Amelogenesis imperfecta	-	OMIM:617217
8120	AP3B2	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
8120	AP3B2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
8120	AP3B2	HP:0001290	Generalized hypotonia	7/11	OMIM:617276
8120	AP3B2	HP:0001272	Cerebellar atrophy	2/12	OMIM:617276
8120	AP3B2	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0001250	Seizure	HP:0040282	ORPHA:442835
8120	AP3B2	HP:0001250	Seizure	8/8	OMIM:617276
8120	AP3B2	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
8120	AP3B2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
8120	AP3B2	HP:0001265	Hyporeflexia	8/11	OMIM:617276
8120	AP3B2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
8120	AP3B2	HP:0001263	Global developmental delay	12/12	OMIM:617276
8120	AP3B2	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0002521	Hypsarrhythmia	3/12	OMIM:617276
8120	AP3B2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0002509	Limb hypertonia	4/12	OMIM:617276
8120	AP3B2	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
8120	AP3B2	HP:0025336	Delayed ability to sit	11/11	OMIM:617276
8120	AP3B2	HP:0001344	Absent speech	4/12	OMIM:617276
8120	AP3B2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617276
8120	AP3B2	HP:0001337	Tremor	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0008936	Axial hypotonia	12/12	OMIM:617276
8120	AP3B2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0002079	Hypoplasia of the corpus callosum	2/12	OMIM:617276
8120	AP3B2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0002059	Cerebral atrophy	2/12	OMIM:617276
8120	AP3B2	HP:0002133	Status epilepticus	4/8	OMIM:617276
8120	AP3B2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
8120	AP3B2	HP:0003593	Infantile onset	5/9	OMIM:617276
8120	AP3B2	HP:0003577	Congenital onset	3/9	OMIM:617276
8120	AP3B2	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0200134	Epileptic encephalopathy	-	OMIM:617276
8120	AP3B2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0002360	Sleep abnormality	3/11	OMIM:617276
8120	AP3B2	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
8120	AP3B2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
8120	AP3B2	HP:0100660	Dyskinesia	5/11	OMIM:617276
8120	AP3B2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0003623	Neonatal onset	1/9	OMIM:617276
8120	AP3B2	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0000637	Long palpebral fissure	1/12	OMIM:617276
8120	AP3B2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
8120	AP3B2	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0004322	Short stature	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0031936	Delayed ability to walk	11/11	OMIM:617276
8120	AP3B2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
8120	AP3B2	HP:0000717	Autism	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
8120	AP3B2	HP:0000817	Reduced eye contact	11/11	OMIM:617276
8120	AP3B2	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0000252	Microcephaly	9/12	OMIM:617276
8120	AP3B2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
8120	AP3B2	HP:0000348	High forehead	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0000510	Rod-cone dystrophy	2/12	OMIM:617276
8120	AP3B2	HP:0000527	Long eyelashes	1/12	OMIM:617276
8120	AP3B2	HP:0000520	Proptosis	2/12	OMIM:617276
8120	AP3B2	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
8120	AP3B2	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
8120	AP3B2	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
8120	AP3B2	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
8120	AP3B2	HP:0000543	Optic disc pallor	4/11	OMIM:617276
8131	NPRL3	HP:0002427	Expressive aphasia	HP:0040283	ORPHA:98820
8131	NPRL3	HP:0001250	Seizure	-	OMIM:617118
8131	NPRL3	HP:0001249	Intellectual disability	HP:0040283	ORPHA:98820
8131	NPRL3	HP:0008765	Auditory hallucination	HP:0040283	ORPHA:98820
8131	NPRL3	HP:0007359	Focal-onset seizure	HP:0040281	ORPHA:98820
8131	NPRL3	HP:0002521	Hypsarrhythmia	HP:0040284	ORPHA:98820
8131	NPRL3	HP:0003829	Typified by incomplete penetrance	-	OMIM:617118
8131	NPRL3	HP:0025373	Interictal EEG abnormality	HP:0040282	ORPHA:98820
8131	NPRL3	HP:0012005	Deja vu aura	HP:0040283	ORPHA:98820
8131	NPRL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:617118
8131	NPRL3	HP:0031284	Flushing	HP:0040283	ORPHA:98820
8131	NPRL3	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:98820
8131	NPRL3	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:98820
8131	NPRL3	HP:0002126	Polymicrogyria	HP:0040284	ORPHA:98820
8131	NPRL3	HP:0003401	Paresthesia	HP:0040283	ORPHA:98820
8131	NPRL3	HP:0032046	Focal cortical dysplasia	2/15	OMIM:617118
8131	NPRL3	HP:0032046	Focal cortical dysplasia	HP:0040283	ORPHA:98820
8131	NPRL3	HP:0032052	Focal cortical dysplasia type IIa	3/6	OMIM:617118
8131	NPRL3	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:98820
8131	NPRL3	HP:0002367	Visual hallucination	HP:0040283	ORPHA:98820
8131	NPRL3	HP:0002349	Focal aware seizure	HP:0040283	ORPHA:98820
8131	NPRL3	HP:0010841	Multifocal epileptiform discharges	HP:0040283	ORPHA:98820
8131	NPRL3	HP:0007206	Hemimegalencephaly	HP:0040284	ORPHA:98820
8131	NPRL3	HP:0031951	Nocturnal seizures	HP:0040282	ORPHA:98820
8131	NPRL3	HP:0000729	Autistic behavior	HP:0040283	ORPHA:98820
8131	NPRL3	HP:0000708	Atypical behavior	HP:0040283	ORPHA:98820
8131	NPRL3	HP:0000980	Pallor	HP:0040283	ORPHA:98820
8131	NPRL3	HP:0011185	EEG with focal epileptiform discharges	HP:0040281	ORPHA:98820
8131	NPRL3	HP:0011171	Simple febrile seizure	HP:0040284	ORPHA:98820
8131	NPRL3	HP:0012469	Infantile spasms	HP:0040283	ORPHA:98820
8131	NPRL3	HP:0012531	Pain	HP:0040283	ORPHA:98820
8139	GAN	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:643
8139	GAN	HP:0002460	Distal muscle weakness	-	OMIM:256850
8139	GAN	HP:0007256	Abnormal pyramidal sign	-	OMIM:256850
8139	GAN	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:643
8139	GAN	HP:0003701	Proximal muscle weakness	-	OMIM:256850
8139	GAN	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:643
8139	GAN	HP:0001270	Motor delay	1/1	OMIM:256850
8139	GAN	HP:0001288	Gait disturbance	HP:0040281	ORPHA:643
8139	GAN	HP:0001284	Areflexia	HP:0040281	ORPHA:643
8139	GAN	HP:0001284	Areflexia	1/1	OMIM:256850
8139	GAN	HP:0001249	Intellectual disability	HP:0040283	OMIM:256850
8139	GAN	HP:0001249	Intellectual disability	HP:0040282	ORPHA:643
8139	GAN	HP:0001260	Dysarthria	-	OMIM:256850
8139	GAN	HP:0001258	Spastic paraplegia	-	OMIM:256850
8139	GAN	HP:0001257	Spasticity	HP:0040282	ORPHA:643
8139	GAN	HP:0002527	Falls	HP:0040283	ORPHA:643
8139	GAN	HP:0002522	Areflexia of lower limbs	-	OMIM:256850
8139	GAN	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:643
8139	GAN	HP:0001347	Hyperreflexia	-	OMIM:256850
8139	GAN	HP:0000007	Autosomal recessive inheritance	-	OMIM:256850
8139	GAN	HP:0002650	Scoliosis	-	OMIM:256850
8139	GAN	HP:0002650	Scoliosis	HP:0040282	ORPHA:643
8139	GAN	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:643
8139	GAN	HP:0001317	Abnormal cerebellum morphology	-	OMIM:256850
8139	GAN	HP:0002600	Hyporeflexia of lower limbs	-	OMIM:256850
8139	GAN	HP:0002013	Vomiting	1/1	OMIM:256850
8139	GAN	HP:0002062	Abnormal pyramidal tract morphology	-	OMIM:256850
8139	GAN	HP:0003390	Sensory axonal neuropathy	-	OMIM:256850
8139	GAN	HP:0003376	Steppage gait	-	OMIM:256850
8139	GAN	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:256850
8139	GAN	HP:0005922	Abnormal hand morphology	HP:0040282	ORPHA:643
8139	GAN	HP:0003487	Babinski sign	HP:0040283	ORPHA:643
8139	GAN	HP:0003429	CNS hypomyelination	HP:0040281	ORPHA:643
8139	GAN	HP:0003405	Diffuse axonal swelling	HP:0040281	ORPHA:643
8139	GAN	HP:0003593	Infantile onset	1/1	OMIM:256850
8139	GAN	HP:0002224	Woolly hair	HP:0040282	ORPHA:643
8139	GAN	HP:0002235	Pili canaliculi	HP:0040281	ORPHA:643
8139	GAN	HP:0002212	Curly hair	-	OMIM:256850
8139	GAN	HP:0007002	Motor axonal neuropathy	-	OMIM:256850
8139	GAN	HP:0010628	Facial palsy	HP:0040282	ORPHA:643
8139	GAN	HP:0010628	Facial palsy	-	OMIM:256850
8139	GAN	HP:0003693	Distal amyotrophy	-	OMIM:256850
8139	GAN	HP:0003690	Limb muscle weakness	HP:0040283	ORPHA:643
8139	GAN	HP:0003677	Slowly progressive	-	OMIM:256850
8139	GAN	HP:0002317	Unsteady gait	HP:0040282	ORPHA:643
8139	GAN	HP:0003621	Juvenile onset	-	OMIM:256850
8139	GAN	HP:0000639	Nystagmus	-	OMIM:256850
8139	GAN	HP:0000613	Photophobia	1/1	OMIM:256850
8139	GAN	HP:0006956	Lateral ventricle dilatation	1/1	OMIM:256850
8139	GAN	HP:0000256	Macrocephaly	1/1	OMIM:256850
8139	GAN	HP:0005109	Abnormality of the Achilles tendon	HP:0040281	ORPHA:643
8139	GAN	HP:0002857	Genu valgum	HP:0040283	ORPHA:643
8139	GAN	HP:0002936	Distal sensory impairment	HP:0040282	ORPHA:643
8139	GAN	HP:0002936	Distal sensory impairment	-	OMIM:256850
8139	GAN	HP:0000486	Strabismus	1/1	OMIM:256850
8139	GAN	HP:0001763	Pes planus	-	OMIM:256850
8139	GAN	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:643
8139	GAN	HP:0001762	Talipes equinovarus	-	OMIM:256850
8139	GAN	HP:0001761	Pes cavus	HP:0040282	ORPHA:643
8139	GAN	HP:0001761	Pes cavus	-	OMIM:256850
8139	GAN	HP:0012503	Abnormal pituitary gland morphology	HP:0040283	ORPHA:643
8148	TAF15	HP:0002463	Language impairment	HP:0040283	ORPHA:803
8148	TAF15	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
8148	TAF15	HP:0001257	Spasticity	HP:0040282	ORPHA:803
8148	TAF15	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
8148	TAF15	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
8148	TAF15	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
8148	TAF15	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
8148	TAF15	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
8148	TAF15	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
8148	TAF15	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
8148	TAF15	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
8148	TAF15	HP:0001442	Typified by somatic mosaicism	-	OMIM:612237
8148	TAF15	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
8148	TAF15	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
8148	TAF15	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
8148	TAF15	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
8148	TAF15	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
8148	TAF15	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
8148	TAF15	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
8148	TAF15	HP:0003470	Paralysis	HP:0040282	ORPHA:803
8148	TAF15	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
8148	TAF15	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
8148	TAF15	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
8148	TAF15	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
8148	TAF15	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
8148	TAF15	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
8148	TAF15	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
8148	TAF15	HP:0002307	Drooling	HP:0040282	ORPHA:803
8148	TAF15	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
8148	TAF15	HP:0004326	Cachexia	HP:0040283	ORPHA:803
8148	TAF15	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
8148	TAF15	HP:0000739	Anxiety	HP:0040282	ORPHA:803
8148	TAF15	HP:0000716	Depression	HP:0040282	ORPHA:803
8148	TAF15	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
8148	TAF15	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
8148	TAF15	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
8148	TAF15	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
8148	TAF15	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
8148	TAF15	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
8148	TAF15	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
8148	TAF15	HP:0012378	Fatigue	HP:0040282	ORPHA:803
8148	TAF15	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
8148	TAF15	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
8148	TAF15	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
8148	TAF15	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
8148	TAF15	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
8148	TAF15	HP:0006765	Chondrosarcoma	-	OMIM:612237
8148	TAF15	HP:0001824	Weight loss	HP:0040282	ORPHA:803
8148	TAF15	HP:0012531	Pain	HP:0040282	ORPHA:803
8192	CLPP	HP:0001250	Seizure	3/10	OMIM:614129
8192	CLPP	HP:0000013	Hypoplasia of the uterus	3/9	OMIM:614129
8192	CLPP	HP:0000007	Autosomal recessive inheritance	-	OMIM:614129
8192	CLPP	HP:0010464	Streak ovary	1/9	OMIM:614129
8192	CLPP	HP:0008232	Elevated circulating follicle stimulating hormone level	8/8	OMIM:614129
8192	CLPP	HP:0011969	Elevated circulating luteinizing hormone level	7/8	OMIM:614129
8192	CLPP	HP:0004322	Short stature	3/10	OMIM:614129
8192	CLPP	HP:0000786	Primary amenorrhea	3/9	OMIM:614129
8192	CLPP	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:614129
8192	CLPP	HP:0000252	Microcephaly	3/10	OMIM:614129
8192	CLPP	HP:0000407	Sensorineural hearing impairment	10/10	OMIM:614129
8195	MKKS	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
8195	MKKS	HP:0001156	Brachydactyly	HP:0040283	ORPHA:2473
8195	MKKS	HP:0001162	Postaxial hand polydactyly	-	OMIM:236700
8195	MKKS	HP:0001162	Postaxial hand polydactyly	HP:0040282	ORPHA:2473
8195	MKKS	HP:0001159	Syndactyly	-	OMIM:236700
8195	MKKS	HP:0001159	Syndactyly	-	OMIM:605231
8195	MKKS	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
8195	MKKS	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
8195	MKKS	HP:0001250	Seizure	HP:0040283	ORPHA:110
8195	MKKS	HP:0001251	Ataxia	HP:0040283	ORPHA:110
8195	MKKS	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2473
8195	MKKS	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
8195	MKKS	HP:0001249	Intellectual disability	6/7	OMIM:605231
8195	MKKS	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2473
8195	MKKS	HP:0001257	Spasticity	HP:0040283	ORPHA:110
8195	MKKS	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
8195	MKKS	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:2473
8195	MKKS	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
8195	MKKS	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
8195	MKKS	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
8195	MKKS	HP:0008678	Renal hypoplasia/aplasia	HP:0040284	ORPHA:2473
8195	MKKS	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
8195	MKKS	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
8195	MKKS	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
8195	MKKS	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
8195	MKKS	HP:0000072	Hydroureter	-	OMIM:236700
8195	MKKS	HP:0001374	Congenital hip dislocation	-	OMIM:236700
8195	MKKS	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
8195	MKKS	HP:0000047	Hypospadias	1/3	OMIM:605231
8195	MKKS	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
8195	MKKS	HP:0000028	Cryptorchidism	-	OMIM:236700
8195	MKKS	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:2473
8195	MKKS	HP:0006159	Mesoaxial hand polydactyly	-	OMIM:236700
8195	MKKS	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
8195	MKKS	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
8195	MKKS	HP:0000007	Autosomal recessive inheritance	-	OMIM:236700
8195	MKKS	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
8195	MKKS	HP:0000007	Autosomal recessive inheritance	-	OMIM:605231
8195	MKKS	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:2473
8195	MKKS	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
8195	MKKS	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
8195	MKKS	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
8195	MKKS	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
8195	MKKS	HP:0000175	Cleft palate	HP:0040283	ORPHA:2473
8195	MKKS	HP:0000143	Rectovaginal fistula	-	OMIM:236700
8195	MKKS	HP:0000145	Transverse vaginal septum	-	OMIM:236700
8195	MKKS	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
8195	MKKS	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
8195	MKKS	HP:0000148	Vaginal atresia	-	OMIM:236700
8195	MKKS	HP:0000148	Vaginal atresia	1/4	OMIM:605231
8195	MKKS	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
8195	MKKS	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
8195	MKKS	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
8195	MKKS	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
8195	MKKS	HP:0000113	Polycystic kidney dysplasia	-	OMIM:236700
8195	MKKS	HP:0000126	Hydronephrosis	-	OMIM:236700
8195	MKKS	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
8195	MKKS	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:2473
8195	MKKS	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
8195	MKKS	HP:0000107	Renal cyst	2/7	OMIM:605231
8195	MKKS	HP:0002023	Anal atresia	-	OMIM:236700
8195	MKKS	HP:0002023	Anal atresia	HP:0040283	ORPHA:2473
8195	MKKS	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
8195	MKKS	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
8195	MKKS	HP:0002089	Pulmonary hypoplasia	-	OMIM:236700
8195	MKKS	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
8195	MKKS	HP:0002099	Asthma	HP:0040283	ORPHA:110
8195	MKKS	HP:0005916	Abnormal metacarpal morphology	HP:0040283	ORPHA:2473
8195	MKKS	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
8195	MKKS	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
8195	MKKS	HP:0003577	Congenital onset	7/7	OMIM:605231
8195	MKKS	HP:0002251	Aganglionic megacolon	-	OMIM:236700
8195	MKKS	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
8195	MKKS	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:2473
8195	MKKS	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
8195	MKKS	HP:0100779	Urogenital sinus anomaly	HP:0040282	ORPHA:2473
8195	MKKS	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
8195	MKKS	HP:0008368	Tarsal synostosis	HP:0040283	ORPHA:2473
8195	MKKS	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
8195	MKKS	HP:0010741	Pedal edema	-	OMIM:236700
8195	MKKS	HP:0003621	Juvenile onset	8/19	OMIM:180100
8195	MKKS	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
8195	MKKS	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
8195	MKKS	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
8195	MKKS	HP:0000618	Blindness	HP:0040282	ORPHA:110
8195	MKKS	HP:0000613	Photophobia	HP:0040282	ORPHA:110
8195	MKKS	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
8195	MKKS	HP:0000691	Microdontia	HP:0040283	ORPHA:110
8195	MKKS	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
8195	MKKS	HP:0000662	Nyctalopia	26/28	OMIM:180100
8195	MKKS	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
8195	MKKS	HP:0004322	Short stature	HP:0040283	ORPHA:2473
8195	MKKS	HP:0004322	Short stature	HP:0040282	ORPHA:110
8195	MKKS	HP:0030680	Abnormal cardiovascular system morphology	-	OMIM:236700
8195	MKKS	HP:0000807	Glanular hypospadias	HP:0040282	ORPHA:2473
8195	MKKS	HP:0004383	Hypoplastic left heart	HP:0040283	ORPHA:2473
8195	MKKS	HP:0004397	Ectopic anus	HP:0040283	ORPHA:2473
8195	MKKS	HP:0000739	Anxiety	HP:0040283	ORPHA:110
8195	MKKS	HP:0000736	Short attention span	HP:0040282	ORPHA:110
8195	MKKS	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
8195	MKKS	HP:0000716	Depression	HP:0040282	ORPHA:110
8195	MKKS	HP:0000717	Autism	HP:0040282	ORPHA:110
8195	MKKS	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
8195	MKKS	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
8195	MKKS	HP:0011463	Childhood onset	3/19	OMIM:180100
8195	MKKS	HP:0011462	Young adult onset	8/19	OMIM:180100
8195	MKKS	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
8195	MKKS	HP:0000789	Infertility	HP:0040283	ORPHA:110
8195	MKKS	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
8195	MKKS	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
8195	MKKS	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
8195	MKKS	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
8195	MKKS	HP:0000819	Diabetes mellitus	4/7	OMIM:605231
8195	MKKS	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
8195	MKKS	HP:0000822	Hypertension	HP:0040282	ORPHA:110
8195	MKKS	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
8195	MKKS	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
8195	MKKS	HP:0003241	External genital hypoplasia	-	OMIM:605231
8195	MKKS	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
8195	MKKS	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
8195	MKKS	HP:0100259	Postaxial polydactyly	7/7	OMIM:605231
8195	MKKS	HP:0000969	Edema	-	OMIM:236700
8195	MKKS	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
8195	MKKS	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
8195	MKKS	HP:0012227	Urethral stricture	HP:0040283	ORPHA:2473
8195	MKKS	HP:0001586	Vesicovaginal fistula	-	OMIM:236700
8195	MKKS	HP:0000218	High palate	HP:0040282	ORPHA:110
8195	MKKS	HP:0000218	High palate	HP:0040283	ORPHA:2473
8195	MKKS	HP:0030010	Hydrometrocolpos	-	OMIM:236700
8195	MKKS	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
8195	MKKS	HP:0030010	Hydrometrocolpos	HP:0040281	ORPHA:2473
8195	MKKS	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2473
8195	MKKS	HP:0001513	Obesity	HP:0040281	ORPHA:110
8195	MKKS	HP:0001513	Obesity	7/7	OMIM:605231
8195	MKKS	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
8195	MKKS	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
8195	MKKS	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
8195	MKKS	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
8195	MKKS	HP:0000388	Otitis media	HP:0040283	ORPHA:110
8195	MKKS	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
8195	MKKS	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
8195	MKKS	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
8195	MKKS	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
8195	MKKS	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
8195	MKKS	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
8195	MKKS	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:2473
8195	MKKS	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:2473
8195	MKKS	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
8195	MKKS	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:2473
8195	MKKS	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
8195	MKKS	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:2473
8195	MKKS	HP:0000400	Macrotia	HP:0040283	ORPHA:110
8195	MKKS	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
8195	MKKS	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
8195	MKKS	HP:0000486	Strabismus	HP:0040283	ORPHA:110
8195	MKKS	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
8195	MKKS	HP:0000470	Short neck	HP:0040283	ORPHA:110
8195	MKKS	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
8195	MKKS	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
8195	MKKS	HP:0000518	Cataract	HP:0040283	ORPHA:110
8195	MKKS	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
8195	MKKS	HP:0000510	Rod-cone dystrophy	-	OMIM:605231
8195	MKKS	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
8195	MKKS	HP:0001830	Postaxial foot polydactyly	HP:0040283	ORPHA:2473
8195	MKKS	HP:0000580	Pigmentary retinopathy	7/7	OMIM:605231
8195	MKKS	HP:0000575	Scotoma	5/18	OMIM:180100
8195	MKKS	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
8195	MKKS	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
8195	MKKS	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
8195	MKKS	HP:0000543	Optic disc pallor	1/1	OMIM:180100
8195	MKKS	HP:0000545	Myopia	-	OMIM:180100
8200	GDF5	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:2639
8200	GDF5	HP:0001156	Brachydactyly	4/4	OMIM:615072
8200	GDF5	HP:0001156	Brachydactyly	HP:0040281	OMIM:228900
8200	GDF5	HP:0001156	Brachydactyly	HP:0040281	ORPHA:2098
8200	GDF5	HP:0001156	Brachydactyly	HP:0040282	ORPHA:3250
8200	GDF5	HP:0001156	Brachydactyly	HP:0040281	ORPHA:968
8200	GDF5	HP:0001156	Brachydactyly	-	OMIM:610017
8200	GDF5	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3237
8200	GDF5	HP:0001156	Brachydactyly	-	OMIM:113100
8200	GDF5	HP:0001156	Brachydactyly	HP:0040281	ORPHA:2639
8200	GDF5	HP:0001162	Postaxial hand polydactyly	1/3	OMIM:113100
8200	GDF5	HP:0001162	Postaxial hand polydactyly	5/8	OMIM:200700
8200	GDF5	HP:0001162	Postaxial hand polydactyly	HP:0040282	ORPHA:2098
8200	GDF5	HP:0009882	Short distal phalanx of finger	-	OMIM:615072
8200	GDF5	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8200	GDF5	HP:0001293	Cranial nerve compression	-	OMIM:131300
8200	GDF5	HP:0001252	Hypotonia	2/7	OMIM:615777
8200	GDF5	HP:0001249	Intellectual disability	0/1	OMIM:200700
8200	GDF5	HP:0001249	Intellectual disability	5/7	OMIM:615777
8200	GDF5	HP:0001263	Global developmental delay	-	OMIM:615777
8200	GDF5	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:93384
8200	GDF5	HP:6000650	Distal tibiofibular synostosis	-	OMIM:200700
8200	GDF5	HP:0001230	Broad metacarpals	HP:0040283	ORPHA:93388
8200	GDF5	HP:0006110	Shortening of all middle phalanges of the fingers	-	OMIM:201250
8200	GDF5	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:3250
8200	GDF5	HP:0006011	Cuboidal metacarpal	HP:0040282	ORPHA:968
8200	GDF5	HP:0006011	Cuboidal metacarpal	-	OMIM:201250
8200	GDF5	HP:0006014	Abnormally shaped carpal bones	HP:0040282	ORPHA:968
8200	GDF5	HP:0006014	Abnormally shaped carpal bones	-	OMIM:201250
8200	GDF5	HP:0001204	Distal symphalangism of hands	HP:0040283	ORPHA:93388
8200	GDF5	HP:0002515	Waddling gait	54/102	OMIM:131300
8200	GDF5	HP:0003826	Stillbirth	-	OMIM:200700
8200	GDF5	HP:0006092	Malaligned carpal bone	HP:0040282	OMIM:228900
8200	GDF5	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:2639
8200	GDF5	HP:0001371	Flexion contracture	-	OMIM:200700
8200	GDF5	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:63442
8200	GDF5	HP:0001387	Joint stiffness	HP:0040282	ORPHA:968
8200	GDF5	HP:0001387	Joint stiffness	HP:0040281	ORPHA:3237
8200	GDF5	HP:0001387	Joint stiffness	HP:0040281	ORPHA:2098
8200	GDF5	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:63442
8200	GDF5	HP:0001382	Joint hypermobility	-	OMIM:615777
8200	GDF5	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8200	GDF5	HP:0008890	Severe short-limb dwarfism	HP:0040281	ORPHA:968
8200	GDF5	HP:0008890	Severe short-limb dwarfism	-	OMIM:201250
8200	GDF5	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8200	GDF5	HP:0006228	Valgus hand deformity	-	OMIM:200700
8200	GDF5	HP:0008873	Disproportionate short-limb short stature	-	OMIM:200700
8200	GDF5	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:2098
8200	GDF5	HP:0006206	Hypersegmentation of proximal phalanx of second finger	-	OMIM:113100
8200	GDF5	HP:0008843	Hip osteoarthritis	HP:0040282	ORPHA:63442
8200	GDF5	HP:0006143	Abnormal finger flexion crease	-	OMIM:615298
8200	GDF5	HP:0006144	Shortening of all proximal phalanges of the fingers	-	OMIM:201250
8200	GDF5	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8200	GDF5	HP:0001324	Muscle weakness	40/96	OMIM:131300
8200	GDF5	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8200	GDF5	HP:0000007	Autosomal recessive inheritance	-	OMIM:201250
8200	GDF5	HP:0000007	Autosomal recessive inheritance	-	OMIM:200700
8200	GDF5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615072
8200	GDF5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8200	GDF5	HP:0000007	Autosomal recessive inheritance	-	OMIM:228900
8200	GDF5	HP:0000006	Autosomal dominant inheritance	-	OMIM:615298
8200	GDF5	HP:0000006	Autosomal dominant inheritance	-	OMIM:112600
8200	GDF5	HP:0000006	Autosomal dominant inheritance	-	OMIM:113100
8200	GDF5	HP:0000006	Autosomal dominant inheritance	-	OMIM:615072
8200	GDF5	HP:0000006	Autosomal dominant inheritance	-	OMIM:610017
8200	GDF5	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8200	GDF5	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:2098
8200	GDF5	HP:0002650	Scoliosis	HP:0040283	ORPHA:93388
8200	GDF5	HP:0002650	Scoliosis	12/14	OMIM:131300
8200	GDF5	HP:0002650	Scoliosis	HP:0040282	ORPHA:968
8200	GDF5	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8200	GDF5	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040282	ORPHA:968
8200	GDF5	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8200	GDF5	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8200	GDF5	HP:0008905	Rhizomelia	HP:0040282	OMIM:228900
8200	GDF5	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8200	GDF5	HP:0000175	Cleft palate	2/7	OMIM:615777
8200	GDF5	HP:0007598	Bilateral single transverse palmar creases	HP:0040281	ORPHA:2639
8200	GDF5	HP:0007598	Bilateral single transverse palmar creases	HP:0040281	ORPHA:968
8200	GDF5	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:3237
8200	GDF5	HP:6000921	Fibular torsion	-	OMIM:200700
8200	GDF5	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:63442
8200	GDF5	HP:0002750	Delayed skeletal maturation	1/2	OMIM:113100
8200	GDF5	HP:0004691	2-3 toe syndactyly	-	OMIM:112600
8200	GDF5	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:968
8200	GDF5	HP:0003388	Easy fatigability	36/76	OMIM:131300
8200	GDF5	HP:0009461	Short 3rd finger	HP:0040281	OMIM:113100
8200	GDF5	HP:0009463	Ulnar deviation of the 3rd finger	HP:0040282	OMIM:113100
8200	GDF5	HP:0009465	Ulnar deviation of finger	HP:0040281	ORPHA:93384
8200	GDF5	HP:0009464	Ulnar deviation of the 2nd finger	-	OMIM:112600
8200	GDF5	HP:0009464	Ulnar deviation of the 2nd finger	2/3	OMIM:113100
8200	GDF5	HP:0009467	Radial deviation of the 2nd finger	-	OMIM:112600
8200	GDF5	HP:0009456	Triangular shaped proximal phalanx of the 3rd finger	HP:0040282	OMIM:113100
8200	GDF5	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8200	GDF5	HP:0008119	Deformed tarsal bones	HP:0040282	OMIM:228900
8200	GDF5	HP:0009436	Triangular shaped middle phalanx of the 3rd finger	HP:0040282	OMIM:113100
8200	GDF5	HP:0009439	Short middle phalanx of the 3rd finger	4/4	OMIM:615072
8200	GDF5	HP:0009439	Short middle phalanx of the 3rd finger	2/3	OMIM:113100
8200	GDF5	HP:0009417	Pseudoepiphyses of the 3rd finger	HP:0040281	OMIM:113100
8200	GDF5	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:63442
8200	GDF5	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2639
8200	GDF5	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:3250
8200	GDF5	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	-	OMIM:200700
8200	GDF5	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	HP:0040281	ORPHA:2098
8200	GDF5	HP:0009495	Pseudoepiphysis of the 2nd finger	HP:0040281	ORPHA:93384
8200	GDF5	HP:0009495	Pseudoepiphysis of the 2nd finger	HP:0040281	OMIM:113100
8200	GDF5	HP:0011929	Hypersegmentation of proximal phalanx of third finger	-	OMIM:113100
8200	GDF5	HP:0009606	Complete duplication of distal phalanx of the thumb	HP:0040282	ORPHA:93384
8200	GDF5	HP:0011927	Short digit	-	OMIM:200700
8200	GDF5	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040282	ORPHA:2098
8200	GDF5	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:968
8200	GDF5	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:3250
8200	GDF5	HP:0009587	Triangular shaped proximal phalanx of the 2nd finger	HP:0040282	OMIM:113100
8200	GDF5	HP:0009575	Triangular shaped middle phalanx of the 2nd finger	-	OMIM:112600
8200	GDF5	HP:0009575	Triangular shaped middle phalanx of the 2nd finger	HP:0040282	OMIM:113100
8200	GDF5	HP:0009577	Short middle phalanx of the 2nd finger	4/4	OMIM:615072
8200	GDF5	HP:0009577	Short middle phalanx of the 2nd finger	2/3	OMIM:113100
8200	GDF5	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	-	OMIM:112600
8200	GDF5	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	HP:0040283	ORPHA:93396
8200	GDF5	HP:0009534	Triangular epiphysis of the proximal phalanx of the 2nd finger	2/3	OMIM:113100
8200	GDF5	HP:0009536	Short 2nd finger	-	OMIM:112600
8200	GDF5	HP:0009536	Short 2nd finger	-	OMIM:615298
8200	GDF5	HP:0009536	Short 2nd finger	HP:0040281	OMIM:113100
8200	GDF5	HP:0010508	Metatarsus valgus	HP:0040283	ORPHA:93384
8200	GDF5	HP:0009523	Triangular epiphysis of the middle phalanx of the 2nd finger	HP:0040282	OMIM:113100
8200	GDF5	HP:0009527	Enlarged epiphysis of the proximal phalanx of the 2nd finger	HP:0040282	OMIM:113100
8200	GDF5	HP:0009516	Enlarged epiphysis of the middle phalanx of the 2nd finger	HP:0040282	OMIM:113100
8200	GDF5	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:93384
8200	GDF5	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:93388
8200	GDF5	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:3237
8200	GDF5	HP:0003577	Congenital onset	1/1	OMIM:200700
8200	GDF5	HP:0009700	Finger symphalangism	-	OMIM:610017
8200	GDF5	HP:0009702	Carpal synostosis	-	OMIM:610017
8200	GDF5	HP:0008368	Tarsal synostosis	HP:0040281	ORPHA:2639
8200	GDF5	HP:0008368	Tarsal synostosis	HP:0040281	ORPHA:2098
8200	GDF5	HP:0008368	Tarsal synostosis	HP:0040281	ORPHA:968
8200	GDF5	HP:0008368	Tarsal synostosis	HP:0040281	ORPHA:3250
8200	GDF5	HP:0008368	Tarsal synostosis	-	OMIM:610017
8200	GDF5	HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb	HP:0040282	ORPHA:93384
8200	GDF5	HP:0010624	Aplastic/hypoplastic toenail	-	OMIM:228900
8200	GDF5	HP:0032078	Angel-shaped phalanx	1/3	OMIM:113100
8200	GDF5	HP:0003510	Severe short stature	7/7	OMIM:615777
8200	GDF5	HP:0002315	Headache	-	OMIM:131300
8200	GDF5	HP:0004976	Knee dislocation	6/7	OMIM:615777
8200	GDF5	HP:0009803	Short phalanx of finger	-	OMIM:200700
8200	GDF5	HP:0009803	Short phalanx of finger	HP:0040282	OMIM:228900
8200	GDF5	HP:0009803	Short phalanx of finger	-	OMIM:615777
8200	GDF5	HP:0010760	Absent toe	HP:0040282	OMIM:228900
8200	GDF5	HP:0009773	Symphalangism affecting the phalanges of the hand	HP:0040283	ORPHA:93384
8200	GDF5	HP:0009773	Symphalangism affecting the phalanges of the hand	HP:0040281	ORPHA:3237
8200	GDF5	HP:0009778	Short thumb	HP:0040281	ORPHA:93388
8200	GDF5	HP:0009778	Short thumb	HP:0040281	ORPHA:968
8200	GDF5	HP:0009778	Short thumb	-	OMIM:201250
8200	GDF5	HP:0010743	Short metatarsal	HP:0040282	OMIM:228900
8200	GDF5	HP:0010743	Short metatarsal	HP:0040282	ORPHA:93384
8200	GDF5	HP:0009763	Limb pain	63/92	OMIM:131300
8200	GDF5	HP:0003621	Juvenile onset	-	OMIM:131300
8200	GDF5	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8200	GDF5	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:615298
8200	GDF5	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:112600
8200	GDF5	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:93396
8200	GDF5	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:3250
8200	GDF5	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:93384
8200	GDF5	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:93388
8200	GDF5	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	OMIM:113100
8200	GDF5	HP:0004279	Short palm	HP:0040281	ORPHA:3237
8200	GDF5	HP:0004220	Short middle phalanx of the 5th finger	-	OMIM:112600
8200	GDF5	HP:0004220	Short middle phalanx of the 5th finger	4/4	OMIM:615072
8200	GDF5	HP:0004220	Short middle phalanx of the 5th finger	HP:0040281	ORPHA:63442
8200	GDF5	HP:0004220	Short middle phalanx of the 5th finger	HP:0040283	ORPHA:93396
8200	GDF5	HP:0004220	Short middle phalanx of the 5th finger	2/3	OMIM:113100
8200	GDF5	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8200	GDF5	HP:6001052	Tibiotalar synostosis	-	OMIM:200700
8200	GDF5	HP:0001964	Aplasia/Hypoplasia of metatarsal bones	-	OMIM:200700
8200	GDF5	HP:6001056	Out-toeing	-	OMIM:131300
8200	GDF5	HP:0000651	Diplopia	-	OMIM:131300
8200	GDF5	HP:0001956	Truncal obesity	2/7	OMIM:615777
8200	GDF5	HP:0001903	Anemia	HP:0040283	OMIM:131300
8200	GDF5	HP:0010049	Short metacarpal	HP:0040282	OMIM:228900
8200	GDF5	HP:0010049	Short metacarpal	-	OMIM:615777
8200	GDF5	HP:0010049	Short metacarpal	HP:0040282	ORPHA:968
8200	GDF5	HP:0010055	Broad hallux	-	OMIM:112600
8200	GDF5	HP:0010038	Short 2nd metacarpal	HP:0040283	ORPHA:93396
8200	GDF5	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	HP:0040281	ORPHA:93384
8200	GDF5	HP:0010034	Short 1st metacarpal	4/4	OMIM:615072
8200	GDF5	HP:0010034	Short 1st metacarpal	HP:0040281	ORPHA:63442
8200	GDF5	HP:0010034	Short 1st metacarpal	1/3	OMIM:113100
8200	GDF5	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:63442
8200	GDF5	HP:0000678	Dental crowding	-	OMIM:615777
8200	GDF5	HP:0000670	Carious teeth	-	OMIM:131300
8200	GDF5	HP:0011304	Broad thumb	2/7	OMIM:615777
8200	GDF5	HP:0011304	Broad thumb	HP:0040282	ORPHA:3237
8200	GDF5	HP:0000668	Hypodontia	HP:0040282	ORPHA:63442
8200	GDF5	HP:0000668	Hypodontia	-	OMIM:615777
8200	GDF5	HP:0000664	Synophrys	-	OMIM:615777
8200	GDF5	HP:0004322	Short stature	HP:0040282	ORPHA:63442
8200	GDF5	HP:0004322	Short stature	HP:0040282	OMIM:113100
8200	GDF5	HP:0004322	Short stature	HP:0040283	ORPHA:93384
8200	GDF5	HP:0004322	Short stature	HP:0040281	ORPHA:93388
8200	GDF5	HP:0004322	Short stature	-	OMIM:615072
8200	GDF5	HP:0004322	Short stature	HP:0040281	ORPHA:2639
8200	GDF5	HP:0003070	Elbow ankylosis	HP:0040282	ORPHA:3250
8200	GDF5	HP:0003086	Acromesomelia	1/1	OMIM:200700
8200	GDF5	HP:0003086	Acromesomelia	-	OMIM:201250
8200	GDF5	HP:0003086	Acromesomelia	HP:0040281	ORPHA:968
8200	GDF5	HP:0003067	Madelung deformity	-	OMIM:113100
8200	GDF5	HP:0004396	Poor appetite	-	OMIM:131300
8200	GDF5	HP:0003038	Fibular hypoplasia	-	OMIM:200700
8200	GDF5	HP:0003038	Fibular hypoplasia	0/4	OMIM:615072
8200	GDF5	HP:0003038	Fibular hypoplasia	20/20	OMIM:201250
8200	GDF5	HP:0003038	Fibular hypoplasia	HP:0040282	ORPHA:2098
8200	GDF5	HP:0003038	Fibular hypoplasia	-	OMIM:228900
8200	GDF5	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8200	GDF5	HP:0003028	Abnormality of the ankle	HP:0040281	ORPHA:968
8200	GDF5	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8200	GDF5	HP:0003042	Elbow dislocation	HP:0040282	ORPHA:3250
8200	GDF5	HP:0003042	Elbow dislocation	-	OMIM:201250
8200	GDF5	HP:0003042	Elbow dislocation	HP:0040281	ORPHA:968
8200	GDF5	HP:0003041	Humeroradial synostosis	-	OMIM:610017
8200	GDF5	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8200	GDF5	HP:0003026	Short long bone	7/7	OMIM:615777
8200	GDF5	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8200	GDF5	HP:0003022	Hypoplasia of the ulna	-	OMIM:200700
8200	GDF5	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:93388
8200	GDF5	HP:0003022	Hypoplasia of the ulna	-	OMIM:201250
8200	GDF5	HP:0003019	Abnormality of the wrist	HP:0040283	ORPHA:3250
8200	GDF5	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8200	GDF5	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8200	GDF5	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8200	GDF5	HP:0000750	Delayed speech and language development	-	OMIM:615777
8200	GDF5	HP:0009182	Triangular shaped middle phalanx of the 5th finger	-	OMIM:112600
8200	GDF5	HP:0009177	Proximal/middle symphalangism of 5th finger	-	OMIM:615298
8200	GDF5	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	-	OMIM:112600
8200	GDF5	HP:0011461	Fetal onset	7/7	OMIM:615777
8200	GDF5	HP:0010109	Short hallux	-	OMIM:112600
8200	GDF5	HP:0010109	Short hallux	HP:0040281	ORPHA:93388
8200	GDF5	HP:0000774	Narrow chest	2/7	OMIM:615777
8200	GDF5	HP:0005736	Short tibia	-	OMIM:200700
8200	GDF5	HP:0005736	Short tibia	-	OMIM:201250
8200	GDF5	HP:0005736	Short tibia	HP:0040282	ORPHA:2098
8200	GDF5	HP:0000926	Platyspondyly	1/7	OMIM:615777
8200	GDF5	HP:0003180	Flat acetabular roof	-	OMIM:615777
8200	GDF5	HP:0004482	Relative macrocephaly	-	OMIM:615777
8200	GDF5	HP:0005792	Short humerus	-	OMIM:200700
8200	GDF5	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8200	GDF5	HP:0100387	Aplasia of the middle phalanges of the toes	HP:0040281	ORPHA:2098
8200	GDF5	HP:0003097	Short femur	-	OMIM:200700
8200	GDF5	HP:0000823	Delayed puberty	-	OMIM:131300
8200	GDF5	HP:0040019	Finger clinodactyly	HP:0040282	ORPHA:3250
8200	GDF5	HP:0009295	Short middle phalanx of the 4th finger	4/4	OMIM:615072
8200	GDF5	HP:0010259	Cone-shaped epiphyses of the middle phalanges of the hand	HP:0040281	OMIM:113100
8200	GDF5	HP:0040071	Abnormal morphology of ulna	HP:0040281	ORPHA:2639
8200	GDF5	HP:0000894	Short clavicles	-	OMIM:615777
8200	GDF5	HP:0005880	Metacarpophalangeal synostosis	HP:0040282	ORPHA:3250
8200	GDF5	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8200	GDF5	HP:0003272	Abnormal hip bone morphology	HP:0040281	ORPHA:2639
8200	GDF5	HP:0009349	Enlarged epiphysis of the proximal phalanx of the 3rd finger	HP:0040282	OMIM:113100
8200	GDF5	HP:0100264	Proximal symphalangism	HP:0040281	ORPHA:3250
8200	GDF5	HP:0100264	Proximal symphalangism	-	OMIM:610017
8200	GDF5	HP:0009331	Triangular epiphysis of the middle phalanx of the 3rd finger	HP:0040282	OMIM:113100
8200	GDF5	HP:0009324	Enlarged epiphysis of the middle phalanx of the 3rd finger	HP:0040282	OMIM:113100
8200	GDF5	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8200	GDF5	HP:0000954	Single transverse palmar crease	-	OMIM:201250
8200	GDF5	HP:0100242	Sarcoma	HP:0040281	ORPHA:2098
8200	GDF5	HP:0008096	Medially deviated second toe	-	OMIM:112600
8200	GDF5	HP:0008081	Pes valgus	-	OMIM:200700
8200	GDF5	HP:0005819	Short middle phalanx of finger	HP:0040281	ORPHA:63442
8200	GDF5	HP:0005819	Short middle phalanx of finger	HP:0040283	ORPHA:93396
8200	GDF5	HP:0005819	Short middle phalanx of finger	HP:0040281	ORPHA:93384
8200	GDF5	HP:0005819	Short middle phalanx of finger	HP:0040281	ORPHA:93388
8200	GDF5	HP:0009373	Type C brachydactyly	HP:0040281	ORPHA:93384
8200	GDF5	HP:0009372	Type A2 brachydactyly	HP:0040281	ORPHA:93396
8200	GDF5	HP:0009356	Triangular epiphysis of the proximal phalanx of the 3rd finger	HP:0040282	OMIM:113100
8200	GDF5	HP:0000286	Epicanthus	1/7	OMIM:615777
8200	GDF5	HP:0000280	Coarse facial features	2/7	OMIM:615777
8200	GDF5	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:3237
8200	GDF5	HP:0005096	Distal femoral bowing	-	OMIM:201250
8200	GDF5	HP:0002818	Abnormal morphology of the radius	HP:0040281	ORPHA:2639
8200	GDF5	HP:0002827	Hip dislocation	HP:0040282	ORPHA:968
8200	GDF5	HP:0002827	Hip dislocation	3/7	OMIM:615777
8200	GDF5	HP:0002827	Hip dislocation	-	OMIM:201250
8200	GDF5	HP:0005048	Synostosis of carpal bones	HP:0040281	ORPHA:2639
8200	GDF5	HP:0005048	Synostosis of carpal bones	HP:0040281	ORPHA:2098
8200	GDF5	HP:0005048	Synostosis of carpal bones	HP:0040281	ORPHA:3250
8200	GDF5	HP:0000252	Microcephaly	-	OMIM:615777
8200	GDF5	HP:0002857	Genu valgum	-	OMIM:131300
8200	GDF5	HP:0001522	Death in infancy	-	OMIM:200700
8200	GDF5	HP:0001522	Death in infancy	HP:0040283	ORPHA:2098
8200	GDF5	HP:0001533	Slender build	-	OMIM:131300
8200	GDF5	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8200	GDF5	HP:0007807	Optic nerve compression	-	OMIM:131300
8200	GDF5	HP:0012368	Flat face	7/7	OMIM:615777
8200	GDF5	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8200	GDF5	HP:0002948	Vertebral fusion	-	OMIM:610017
8200	GDF5	HP:0006492	Aplasia/Hypoplasia of the fibula	HP:0040281	ORPHA:2639
8200	GDF5	HP:0006498	Aplasia/Hypoplasia of the patella	-	OMIM:200700
8200	GDF5	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:2098
8200	GDF5	HP:0000365	Hearing impairment	10/67	OMIM:131300
8200	GDF5	HP:0000343	Long philtrum	1/7	OMIM:615777
8200	GDF5	HP:0011001	Increased bone mineral density	-	OMIM:131300
8200	GDF5	HP:0002999	Patellar dislocation	HP:0040282	ORPHA:968
8200	GDF5	HP:0002999	Patellar dislocation	HP:0040282	OMIM:228900
8200	GDF5	HP:0002983	Micromelia	HP:0040281	ORPHA:2098
8200	GDF5	HP:0002983	Micromelia	HP:0040281	ORPHA:2639
8200	GDF5	HP:0000311	Round face	2/7	OMIM:615777
8200	GDF5	HP:0002992	Abnormal tibia morphology	HP:0040281	ORPHA:2639
8200	GDF5	HP:0002990	Fibular aplasia	HP:0040281	OMIM:228900
8200	GDF5	HP:0002986	Radial bowing	-	OMIM:201250
8200	GDF5	HP:0002984	Hypoplasia of the radius	-	OMIM:200700
8200	GDF5	HP:0002984	Hypoplasia of the radius	-	OMIM:201250
8200	GDF5	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:3237
8200	GDF5	HP:0002970	Genu varum	-	OMIM:615777
8200	GDF5	HP:0000303	Mandibular prognathia	-	OMIM:131300
8200	GDF5	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:3250
8200	GDF5	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:3237
8200	GDF5	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8200	GDF5	HP:0000486	Strabismus	HP:0040283	ORPHA:3250
8200	GDF5	HP:0001792	Small nail	HP:0040282	OMIM:228900
8200	GDF5	HP:0000470	Short neck	1/7	OMIM:615777
8200	GDF5	HP:0001773	Short foot	HP:0040282	ORPHA:93396
8200	GDF5	HP:0001773	Short foot	HP:0040281	ORPHA:93388
8200	GDF5	HP:0001773	Short foot	-	OMIM:200700
8200	GDF5	HP:0001773	Short foot	HP:0040281	ORPHA:2098
8200	GDF5	HP:0001773	Short foot	-	OMIM:201250
8200	GDF5	HP:0001772	Talipes equinovalgus	HP:0040282	OMIM:228900
8200	GDF5	HP:0001772	Talipes equinovalgus	HP:0040283	OMIM:113100
8200	GDF5	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8200	GDF5	HP:0001763	Pes planus	-	OMIM:615298
8200	GDF5	HP:0001763	Pes planus	1/7	OMIM:615777
8200	GDF5	HP:0000446	Narrow nasal bridge	HP:0040281	ORPHA:2639
8200	GDF5	HP:0000445	Wide nose	-	OMIM:610017
8200	GDF5	HP:0001776	Bilateral talipes equinovarus	2/4	OMIM:615072
8200	GDF5	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:93388
8200	GDF5	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:610017
8200	GDF5	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:113100
8200	GDF5	HP:0001840	Metatarsus adductus	-	OMIM:615777
8200	GDF5	HP:0000520	Proptosis	2/4	OMIM:131300
8200	GDF5	HP:0000520	Proptosis	7/7	OMIM:615777
8200	GDF5	HP:0001822	Hallux valgus	-	OMIM:112600
8200	GDF5	HP:0001831	Short toe	HP:0040281	ORPHA:2098
8200	GDF5	HP:0004097	Deviation of finger	HP:0040282	OMIM:228900
8200	GDF5	HP:0000592	Blue sclerae	2/7	OMIM:615777
8200	GDF5	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8200	GDF5	HP:0012514	Lower limb pain	4/4	OMIM:131300
8204	NRIP1	HP:0003829	Typified by incomplete penetrance	-	OMIM:618270
8204	NRIP1	HP:0000089	Renal hypoplasia	2/7	OMIM:618270
8204	NRIP1	HP:0000086	Ectopic kidney	2/7	OMIM:618270
8204	NRIP1	HP:0000076	Vesicoureteral reflux	4/7	OMIM:618270
8204	NRIP1	HP:0000003	Multicystic kidney dysplasia	1/7	OMIM:618270
8204	NRIP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618270
8204	NRIP1	HP:0000126	Hydronephrosis	1/7	OMIM:618270
8204	NRIP1	HP:0003577	Congenital onset	1/7	OMIM:618270
8204	NRIP1	HP:0003584	Late onset	1/7	OMIM:618270
8204	NRIP1	HP:0003621	Juvenile onset	1/7	OMIM:618270
8204	NRIP1	HP:0030674	Antenatal onset	2/7	OMIM:618270
8204	NRIP1	HP:0011463	Childhood onset	2/7	OMIM:618270
8214	DGCR6	HP:0001155	Abnormality of the hand	-	OMIM:192430
8214	DGCR6	HP:0001252	Hypotonia	29/38	OMIM:192430
8214	DGCR6	HP:0001249	Intellectual disability	31/38	OMIM:192430
8214	DGCR6	HP:0000023	Inguinal hernia	3/38	OMIM:192430
8214	DGCR6	HP:0000028	Cryptorchidism	3/38	OMIM:192430
8214	DGCR6	HP:0001328	Specific learning disability	-	OMIM:192430
8214	DGCR6	HP:0000006	Autosomal dominant inheritance	-	OMIM:192430
8214	DGCR6	HP:0002627	Right aortic arch with mirror image branching	-	OMIM:192430
8214	DGCR6	HP:0000194	Open mouth	-	OMIM:192430
8214	DGCR6	HP:0000176	Submucous cleft hard palate	15/38	OMIM:192430
8214	DGCR6	HP:0000175	Cleft palate	7/38	OMIM:192430
8214	DGCR6	HP:0002719	Recurrent infections	-	OMIM:192430
8214	DGCR6	HP:0011840	Abnormality of T cell physiology	2/38	OMIM:192430
8214	DGCR6	HP:0011999	Paranoia	-	OMIM:192430
8214	DGCR6	HP:0004935	Pulmonary artery atresia	2/16	OMIM:192430
8214	DGCR6	HP:0000627	Posterior embryotoxon	-	OMIM:192430
8214	DGCR6	HP:0004322	Short stature	24/38	OMIM:192430
8214	DGCR6	HP:0000718	Aggressive behavior	-	OMIM:192430
8214	DGCR6	HP:0000712	Emotional lability	-	OMIM:192430
8214	DGCR6	HP:0012841	Retinal vascular tortuosity	-	OMIM:192430
8214	DGCR6	HP:0000829	Hypoparathyroidism	3/38	OMIM:192430
8214	DGCR6	HP:0011590	Double aortic arch	1/16	OMIM:192430
8214	DGCR6	HP:0011611	Interrupted aortic arch	2/16	OMIM:192430
8214	DGCR6	HP:0045025	Narrow palpebral fissure	-	OMIM:192430
8214	DGCR6	HP:0000278	Retrognathia	-	OMIM:192430
8214	DGCR6	HP:0000252	Microcephaly	-	OMIM:192430
8214	DGCR6	HP:0000220	Velopharyngeal insufficiency	38/38	OMIM:192430
8214	DGCR6	HP:0001537	Umbilical hernia	2/38	OMIM:192430
8214	DGCR6	HP:0000201	Pierre-Robin sequence	-	OMIM:192430
8214	DGCR6	HP:0006549	Unilateral primary pulmonary dysgenesis	-	OMIM:192430
8214	DGCR6	HP:0001611	Hypernasal speech	-	OMIM:192430
8214	DGCR6	HP:0002901	Hypocalcemia	5/38	OMIM:192430
8214	DGCR6	HP:0001629	Ventricular septal defect	-	OMIM:192430
8214	DGCR6	HP:0001636	Tetralogy of Fallot	3/16	OMIM:192430
8214	DGCR6	HP:0000414	Bulbous nose	-	OMIM:192430
8214	DGCR6	HP:0000430	Underdeveloped nasal alae	-	OMIM:192430
8214	DGCR6	HP:0000598	Abnormality of the ear	-	OMIM:192430
8214	DGCR6	HP:0000581	Blepharophimosis	-	OMIM:192430
8214	DGCR6	HP:0001883	Talipes	4/38	OMIM:192430
8216	LZTR1	HP:0001156	Brachydactyly	HP:0040283	ORPHA:648
8216	LZTR1	HP:0001133	Constriction of peripheral visual field	1/7	OMIM:605275
8216	LZTR1	HP:0001134	Anterior polar cataract	1/20	OMIM:605275
8216	LZTR1	HP:0010946	Dilatation of the renal pelvis	HP:0040283	ORPHA:648
8216	LZTR1	HP:0009891	Underdeveloped supraorbital ridges	5/7	OMIM:616564
8216	LZTR1	HP:0009891	Underdeveloped supraorbital ridges	5/7	OMIM:605275
8216	LZTR1	HP:0010880	Increased nuchal translucency	1/3	OMIM:616564
8216	LZTR1	HP:0010880	Increased nuchal translucency	6/11	OMIM:605275
8216	LZTR1	HP:0003764	Nevus	2/7	OMIM:605275
8216	LZTR1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8216	LZTR1	HP:0001293	Cranial nerve compression	-	OMIM:131300
8216	LZTR1	HP:0001250	Seizure	HP:0040284	ORPHA:93921
8216	LZTR1	HP:0001250	Seizure	0/5	OMIM:605275
8216	LZTR1	HP:0001252	Hypotonia	HP:0040282	ORPHA:648
8216	LZTR1	HP:0001252	Hypotonia	2/7	OMIM:615777
8216	LZTR1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:648
8216	LZTR1	HP:0001249	Intellectual disability	4/6	OMIM:605275
8216	LZTR1	HP:0001249	Intellectual disability	5/7	OMIM:615777
8216	LZTR1	HP:0001260	Dysarthria	HP:0040281	ORPHA:648
8216	LZTR1	HP:0001263	Global developmental delay	2/13	OMIM:616564
8216	LZTR1	HP:0001263	Global developmental delay	9/15	OMIM:605275
8216	LZTR1	HP:0001263	Global developmental delay	-	OMIM:615777
8216	LZTR1	HP:0410275	Lumbosacral hemangioma	HP:0040283	ORPHA:93921
8216	LZTR1	HP:0001212	Prominent fingertip pads	3/20	OMIM:605275
8216	LZTR1	HP:0002515	Waddling gait	54/102	OMIM:131300
8216	LZTR1	HP:0003829	Typified by incomplete penetrance	-	OMIM:615670
8216	LZTR1	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:648
8216	LZTR1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:648
8216	LZTR1	HP:0012032	Lipoma	HP:0040283	ORPHA:93921
8216	LZTR1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:648
8216	LZTR1	HP:0001382	Joint hypermobility	-	OMIM:615777
8216	LZTR1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8216	LZTR1	HP:0000028	Cryptorchidism	1/4	OMIM:616564
8216	LZTR1	HP:0000028	Cryptorchidism	4/11	OMIM:605275
8216	LZTR1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:648
8216	LZTR1	HP:0007565	Multiple cafe-au-lait spots	HP:0040281	ORPHA:2678
8216	LZTR1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8216	LZTR1	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:648
8216	LZTR1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:648
8216	LZTR1	HP:0007517	Palmoplantar cutis laxa	4/7	OMIM:616564
8216	LZTR1	HP:0007517	Palmoplantar cutis laxa	4/7	OMIM:605275
8216	LZTR1	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:648
8216	LZTR1	HP:0002664	Neoplasm	HP:0040283	ORPHA:93921
8216	LZTR1	HP:0001328	Specific learning disability	HP:0040283	ORPHA:648
8216	LZTR1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8216	LZTR1	HP:0001324	Muscle weakness	HP:0040283	ORPHA:93921
8216	LZTR1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:648
8216	LZTR1	HP:0001324	Muscle weakness	40/96	OMIM:131300
8216	LZTR1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8216	LZTR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8216	LZTR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:605275
8216	LZTR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616564
8216	LZTR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
8216	LZTR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615670
8216	LZTR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8216	LZTR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:605275
8216	LZTR1	HP:0033748	Hypoesthesia	HP:0040284	ORPHA:93921
8216	LZTR1	HP:0002650	Scoliosis	2/7	OMIM:616564
8216	LZTR1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93921
8216	LZTR1	HP:0002650	Scoliosis	2/7	OMIM:605275
8216	LZTR1	HP:0002650	Scoliosis	HP:0040282	ORPHA:648
8216	LZTR1	HP:0002650	Scoliosis	12/14	OMIM:131300
8216	LZTR1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8216	LZTR1	HP:0002619	Varicose veins	-	OMIM:153400
8216	LZTR1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8216	LZTR1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8216	LZTR1	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:648
8216	LZTR1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8216	LZTR1	HP:0000175	Cleft palate	5/39	OMIM:153400
8216	LZTR1	HP:0000175	Cleft palate	0/7	OMIM:605275
8216	LZTR1	HP:0000175	Cleft palate	2/7	OMIM:615777
8216	LZTR1	HP:0000154	Wide mouth	1/20	OMIM:605275
8216	LZTR1	HP:0001480	Freckling	HP:0040283	ORPHA:2678
8216	LZTR1	HP:0000131	Uterine leiomyoma	HP:0040283	ORPHA:93921
8216	LZTR1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:648
8216	LZTR1	HP:0005989	Redundant neck skin	5/6	OMIM:605275
8216	LZTR1	HP:0011800	Midface retrusion	HP:0040281	ORPHA:648
8216	LZTR1	HP:0011800	Midface retrusion	9/14	OMIM:605275
8216	LZTR1	HP:0003388	Easy fatigability	36/76	OMIM:131300
8216	LZTR1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8216	LZTR1	HP:0011750	Neoplasm of the anterior pituitary	HP:0040284	ORPHA:93921
8216	LZTR1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:648
8216	LZTR1	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:648
8216	LZTR1	HP:0002162	Low posterior hairline	10/20	OMIM:605275
8216	LZTR1	HP:0009589	Bilateral vestibular schwannoma	-	ORPHA:93921
8216	LZTR1	HP:0011869	Abnormal platelet function	HP:0040282	ORPHA:648
8216	LZTR1	HP:0003401	Paresthesia	HP:0040283	ORPHA:93921
8216	LZTR1	HP:0009593	Peripheral schwannoma	HP:0040282	ORPHA:93921
8216	LZTR1	HP:0003593	Infantile onset	7/22	OMIM:605275
8216	LZTR1	HP:0003577	Congenital onset	1/18	OMIM:605275
8216	LZTR1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:648
8216	LZTR1	HP:0003581	Adult onset	23/23	OMIM:615670
8216	LZTR1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
8216	LZTR1	HP:0002202	Pleural effusion	1/5	OMIM:616564
8216	LZTR1	HP:0002212	Curly hair	5/20	OMIM:616564
8216	LZTR1	HP:0002212	Curly hair	8/21	OMIM:605275
8216	LZTR1	HP:0002208	Coarse hair	HP:0040282	ORPHA:648
8216	LZTR1	HP:0010726	Prominent corneal nerve fibers	2/2	OMIM:616564
8216	LZTR1	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:648
8216	LZTR1	HP:0009743	Distichiasis	42/42	OMIM:153400
8216	LZTR1	HP:0003510	Severe short stature	7/7	OMIM:615777
8216	LZTR1	HP:0002380	Fasciculations	HP:0040284	ORPHA:93921
8216	LZTR1	HP:0001034	Hypermelanotic macule	1/1	OMIM:605275
8216	LZTR1	HP:0001004	Lymphedema	HP:0040283	ORPHA:648
8216	LZTR1	HP:0001004	Lymphedema	-	OMIM:153400
8216	LZTR1	HP:0002315	Headache	-	OMIM:131300
8216	LZTR1	HP:0004976	Knee dislocation	6/7	OMIM:615777
8216	LZTR1	HP:0003645	Prolonged partial thromboplastin time	2/2	OMIM:616564
8216	LZTR1	HP:0100658	Cellulitis	2/6	OMIM:153400
8216	LZTR1	HP:0100625	Enlarged thorax	HP:0040281	ORPHA:648
8216	LZTR1	HP:0009803	Short phalanx of finger	-	OMIM:615777
8216	LZTR1	HP:0032152	Keratosis pilaris	1/13	OMIM:616564
8216	LZTR1	HP:0009763	Limb pain	63/92	OMIM:131300
8216	LZTR1	HP:0003623	Neonatal onset	1/18	OMIM:605275
8216	LZTR1	HP:0003621	Juvenile onset	-	OMIM:131300
8216	LZTR1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8216	LZTR1	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:648
8216	LZTR1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8216	LZTR1	HP:0000639	Nystagmus	HP:0040283	ORPHA:648
8216	LZTR1	HP:0000635	Blue irides	HP:0040282	ORPHA:648
8216	LZTR1	HP:6001056	Out-toeing	-	OMIM:131300
8216	LZTR1	HP:0000651	Diplopia	-	OMIM:131300
8216	LZTR1	HP:0000648	Optic atrophy	1/7	OMIM:605275
8216	LZTR1	HP:0000613	Photophobia	10/49	OMIM:153400
8216	LZTR1	HP:0001956	Truncal obesity	2/7	OMIM:615777
8216	LZTR1	HP:0001929	Reduced factor XI activity	1/3	OMIM:616564
8216	LZTR1	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:648
8216	LZTR1	HP:0001928	Abnormality of coagulation	0/4	OMIM:605275
8216	LZTR1	HP:0001909	Leukemia	2/20	OMIM:605275
8216	LZTR1	HP:0001903	Anemia	HP:0040283	OMIM:131300
8216	LZTR1	HP:0010049	Short metacarpal	-	OMIM:615777
8216	LZTR1	HP:0011381	Aplasia of the semicircular canal	HP:0040283	ORPHA:648
8216	LZTR1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
8216	LZTR1	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:648
8216	LZTR1	HP:0000678	Dental crowding	-	OMIM:615777
8216	LZTR1	HP:0000656	Ectropion	2/43	OMIM:153400
8216	LZTR1	HP:0000670	Carious teeth	-	OMIM:131300
8216	LZTR1	HP:0011304	Broad thumb	2/7	OMIM:615777
8216	LZTR1	HP:0000668	Hypodontia	-	OMIM:615777
8216	LZTR1	HP:0000664	Synophrys	-	OMIM:615777
8216	LZTR1	HP:0004322	Short stature	15/17	OMIM:616564
8216	LZTR1	HP:0004322	Short stature	HP:0040281	ORPHA:648
8216	LZTR1	HP:0004322	Short stature	14/24	OMIM:605275
8216	LZTR1	HP:0030674	Antenatal onset	11/18	OMIM:605275
8216	LZTR1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:648
8216	LZTR1	HP:0004396	Poor appetite	-	OMIM:131300
8216	LZTR1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8216	LZTR1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8216	LZTR1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8216	LZTR1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
8216	LZTR1	HP:0003026	Short long bone	7/7	OMIM:615777
8216	LZTR1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8216	LZTR1	HP:0005684	Distal arthrogryposis	1/20	OMIM:605275
8216	LZTR1	HP:0100008	Schwannoma	HP:0040280	ORPHA:93921
8216	LZTR1	HP:0100008	Schwannoma	23/23	OMIM:615670
8216	LZTR1	HP:0000767	Pectus excavatum	1/7	OMIM:616564
8216	LZTR1	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:648
8216	LZTR1	HP:0000767	Pectus excavatum	8/27	OMIM:605275
8216	LZTR1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8216	LZTR1	HP:0000766	Abnormal sternum morphology	-	OMIM:605275
8216	LZTR1	HP:0000768	Pectus carinatum	2/7	OMIM:616564
8216	LZTR1	HP:0000768	Pectus carinatum	3/27	OMIM:605275
8216	LZTR1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8216	LZTR1	HP:0000768	Pectus carinatum	HP:0040281	ORPHA:648
8216	LZTR1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8216	LZTR1	HP:0000750	Delayed speech and language development	-	OMIM:615777
8216	LZTR1	HP:0011463	Childhood onset	1/18	OMIM:605275
8216	LZTR1	HP:0011461	Fetal onset	7/7	OMIM:615777
8216	LZTR1	HP:0011461	Fetal onset	1/4	OMIM:605275
8216	LZTR1	HP:0000774	Narrow chest	2/7	OMIM:615777
8216	LZTR1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:648
8216	LZTR1	HP:0003115	Abnormal EKG	HP:0040281	ORPHA:648
8216	LZTR1	HP:0004415	Pulmonary artery stenosis	HP:0040281	ORPHA:648
8216	LZTR1	HP:0004415	Pulmonary artery stenosis	1/1	OMIM:605275
8216	LZTR1	HP:0000914	Shield chest	12/15	OMIM:605275
8216	LZTR1	HP:0000926	Platyspondyly	1/7	OMIM:615777
8216	LZTR1	HP:0003180	Flat acetabular roof	-	OMIM:615777
8216	LZTR1	HP:0004482	Relative macrocephaly	4/7	OMIM:616564
8216	LZTR1	HP:0004482	Relative macrocephaly	-	OMIM:615777
8216	LZTR1	HP:0004482	Relative macrocephaly	4/7	OMIM:605275
8216	LZTR1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8216	LZTR1	HP:0012804	Corneal ulceration	-	OMIM:153400
8216	LZTR1	HP:0000823	Delayed puberty	-	OMIM:131300
8216	LZTR1	HP:0000894	Short clavicles	-	OMIM:615777
8216	LZTR1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8216	LZTR1	HP:0045075	Sparse eyebrow	6/20	OMIM:616564
8216	LZTR1	HP:0045075	Sparse eyebrow	5/7	OMIM:605275
8216	LZTR1	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:648
8216	LZTR1	HP:0000995	Melanocytic nevus	1/1	OMIM:605275
8216	LZTR1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:648
8216	LZTR1	HP:0010310	Chylothorax	1/6	OMIM:153400
8216	LZTR1	HP:0010302	Spinal cord tumor	HP:0040282	ORPHA:93921
8216	LZTR1	HP:0010302	Spinal cord tumor	-	OMIM:615670
8216	LZTR1	HP:0011636	Abnormal coronary artery origin	1/6	OMIM:605275
8216	LZTR1	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:648
8216	LZTR1	HP:0000974	Hyperextensible skin	2/7	OMIM:616564
8216	LZTR1	HP:0000974	Hyperextensible skin	2/7	OMIM:605275
8216	LZTR1	HP:0000957	Cafe-au-lait spot	1/7	OMIM:616564
8216	LZTR1	HP:0000957	Cafe-au-lait spot	1/7	OMIM:605275
8216	LZTR1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8216	LZTR1	HP:0000953	Hyperpigmentation of the skin	5/7	OMIM:616564
8216	LZTR1	HP:0000953	Hyperpigmentation of the skin	4/4	OMIM:605275
8216	LZTR1	HP:0000964	Eczematoid dermatitis	0/7	OMIM:605275
8216	LZTR1	HP:0000962	Hyperkeratosis	4/7	OMIM:616564
8216	LZTR1	HP:0000962	Hyperkeratosis	4/7	OMIM:605275
8216	LZTR1	HP:0000938	Osteopenia	HP:0040283	ORPHA:648
8216	LZTR1	HP:0011675	Arrhythmia	-	OMIM:153400
8216	LZTR1	HP:0011675	Arrhythmia	HP:0040282	ORPHA:648
8216	LZTR1	HP:0000286	Epicanthus	5/7	OMIM:616564
8216	LZTR1	HP:0000286	Epicanthus	11/27	OMIM:605275
8216	LZTR1	HP:0000286	Epicanthus	1/7	OMIM:615777
8216	LZTR1	HP:0000280	Coarse facial features	2/7	OMIM:615777
8216	LZTR1	HP:0002827	Hip dislocation	3/7	OMIM:615777
8216	LZTR1	HP:0002808	Kyphosis	2/5	OMIM:153400
8216	LZTR1	HP:0002804	Arthrogryposis multiplex congenita	2/20	OMIM:605275
8216	LZTR1	HP:0000252	Microcephaly	-	OMIM:615777
8216	LZTR1	HP:0012209	Juvenile myelomonocytic leukemia	HP:0040283	ORPHA:648
8216	LZTR1	HP:0000218	High palate	3/6	OMIM:616564
8216	LZTR1	HP:0000218	High palate	5/26	OMIM:605275
8216	LZTR1	HP:0000218	High palate	HP:0040281	ORPHA:648
8216	LZTR1	HP:0001561	Polyhydramnios	6/20	OMIM:605275
8216	LZTR1	HP:0002858	Meningioma	HP:0040284	ORPHA:93921
8216	LZTR1	HP:0002857	Genu valgum	-	OMIM:131300
8216	LZTR1	HP:0001533	Slender build	-	OMIM:131300
8216	LZTR1	HP:0000204	Cleft upper lip	-	OMIM:153400
8216	LZTR1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8216	LZTR1	HP:0007807	Optic nerve compression	-	OMIM:131300
8216	LZTR1	HP:0012368	Flat face	7/7	OMIM:615777
8216	LZTR1	HP:0000396	Overfolded helix	3/20	OMIM:605275
8216	LZTR1	HP:0025676	Fetal pleural effusion	1/4	OMIM:605275
8216	LZTR1	HP:0000391	Thickened helices	HP:0040281	ORPHA:648
8216	LZTR1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8216	LZTR1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:93921
8216	LZTR1	HP:0000365	Hearing impairment	10/67	OMIM:131300
8216	LZTR1	HP:0000360	Tinnitus	HP:0040283	ORPHA:93921
8216	LZTR1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:648
8216	LZTR1	HP:0000358	Posteriorly rotated ears	14/14	OMIM:605275
8216	LZTR1	HP:0000369	Low-set ears	7/7	OMIM:616564
8216	LZTR1	HP:0000369	Low-set ears	20/23	OMIM:605275
8216	LZTR1	HP:0000341	Narrow forehead	4/7	OMIM:616564
8216	LZTR1	HP:0000341	Narrow forehead	4/7	OMIM:605275
8216	LZTR1	HP:0000343	Long philtrum	4/20	OMIM:605275
8216	LZTR1	HP:0000343	Long philtrum	1/7	OMIM:615777
8216	LZTR1	HP:0011001	Increased bone mineral density	-	OMIM:131300
8216	LZTR1	HP:0001680	Coarctation of aorta	1/13	OMIM:616564
8216	LZTR1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:648
8216	LZTR1	HP:0001680	Coarctation of aorta	-	OMIM:605275
8216	LZTR1	HP:0000348	High forehead	HP:0040281	ORPHA:648
8216	LZTR1	HP:0000347	Micrognathia	2/5	OMIM:153400
8216	LZTR1	HP:0000347	Micrognathia	9/13	OMIM:605275
8216	LZTR1	HP:0000347	Micrognathia	HP:0040281	ORPHA:648
8216	LZTR1	HP:0001647	Bicuspid aortic valve	2/20	OMIM:605275
8216	LZTR1	HP:0000316	Hypertelorism	16/17	OMIM:616564
8216	LZTR1	HP:0000316	Hypertelorism	13/22	OMIM:605275
8216	LZTR1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:648
8216	LZTR1	HP:0001643	Patent ductus arteriosus	1/7	OMIM:616564
8216	LZTR1	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:648
8216	LZTR1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
8216	LZTR1	HP:0001643	Patent ductus arteriosus	1/7	OMIM:605275
8216	LZTR1	HP:0000311	Round face	2/7	OMIM:615777
8216	LZTR1	HP:0001642	Pulmonic stenosis	5/19	OMIM:616564
8216	LZTR1	HP:0001642	Pulmonic stenosis	4/27	OMIM:605275
8216	LZTR1	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:648
8216	LZTR1	HP:0001653	Mitral regurgitation	1/12	OMIM:616564
8216	LZTR1	HP:0000325	Triangular face	HP:0040281	ORPHA:648
8216	LZTR1	HP:0001655	Patent foramen ovale	4/26	OMIM:605275
8216	LZTR1	HP:0001629	Ventricular septal defect	1/7	OMIM:616564
8216	LZTR1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
8216	LZTR1	HP:0001629	Ventricular septal defect	6/27	OMIM:605275
8216	LZTR1	HP:0001621	Weak voice	HP:0040284	ORPHA:93921
8216	LZTR1	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:648
8216	LZTR1	HP:0002970	Genu varum	-	OMIM:615777
8216	LZTR1	HP:0001639	Hypertrophic cardiomyopathy	5/7	OMIM:616564
8216	LZTR1	HP:0001639	Hypertrophic cardiomyopathy	19/25	OMIM:605275
8216	LZTR1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:648
8216	LZTR1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
8216	LZTR1	HP:0001638	Cardiomyopathy	-	OMIM:605275
8216	LZTR1	HP:0000307	Pointed chin	2/20	OMIM:605275
8216	LZTR1	HP:0002967	Cubitus valgus	2/7	OMIM:616564
8216	LZTR1	HP:0002967	Cubitus valgus	2/6	OMIM:605275
8216	LZTR1	HP:0001631	Atrial septal defect	5/19	OMIM:616564
8216	LZTR1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:648
8216	LZTR1	HP:0001631	Atrial septal defect	7/8	OMIM:605275
8216	LZTR1	HP:0000303	Mandibular prognathia	-	OMIM:131300
8216	LZTR1	HP:0001634	Mitral valve prolapse	2/12	OMIM:616564
8216	LZTR1	HP:0001634	Mitral valve prolapse	1/1	OMIM:605275
8216	LZTR1	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:648
8216	LZTR1	HP:0006610	Wide intermamillary distance	3/20	OMIM:605275
8216	LZTR1	HP:0006695	Atrioventricular canal defect	1/20	OMIM:605275
8216	LZTR1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:648
8216	LZTR1	HP:0001718	Mitral stenosis	-	OMIM:616564
8216	LZTR1	HP:0001718	Mitral stenosis	-	OMIM:605275
8216	LZTR1	HP:0001712	Left ventricular hypertrophy	1/12	OMIM:616564
8216	LZTR1	HP:0005280	Depressed nasal bridge	4/20	OMIM:605275
8216	LZTR1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8216	LZTR1	HP:0000486	Strabismus	1/7	OMIM:605275
8216	LZTR1	HP:0000486	Strabismus	HP:0040282	ORPHA:648
8216	LZTR1	HP:0000476	Cystic hygroma	HP:0040281	ORPHA:648
8216	LZTR1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
8216	LZTR1	HP:0000476	Cystic hygroma	5/9	OMIM:605275
8216	LZTR1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
8216	LZTR1	HP:0000494	Downslanted palpebral fissures	13/16	OMIM:616564
8216	LZTR1	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:648
8216	LZTR1	HP:0000494	Downslanted palpebral fissures	13/23	OMIM:605275
8216	LZTR1	HP:0000463	Anteverted nares	3/20	OMIM:605275
8216	LZTR1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
8216	LZTR1	HP:0001790	Nonimmune hydrops fetalis	2/24	OMIM:605275
8216	LZTR1	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:648
8216	LZTR1	HP:0000470	Short neck	4/9	OMIM:616564
8216	LZTR1	HP:0000470	Short neck	12/27	OMIM:605275
8216	LZTR1	HP:0000470	Short neck	1/7	OMIM:615777
8216	LZTR1	HP:0000465	Webbed neck	4/7	OMIM:616564
8216	LZTR1	HP:0000465	Webbed neck	HP:0040281	ORPHA:648
8216	LZTR1	HP:0000465	Webbed neck	6/43	OMIM:153400
8216	LZTR1	HP:0000465	Webbed neck	7/10	OMIM:605275
8216	LZTR1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8216	LZTR1	HP:0001763	Pes planus	1/7	OMIM:615777
8216	LZTR1	HP:0001743	Abnormality of the spleen	HP:0040282	ORPHA:648
8216	LZTR1	HP:0000431	Wide nasal bridge	2/20	OMIM:605275
8216	LZTR1	HP:0006721	Acute lymphoblastic leukemia	3/20	OMIM:605275
8216	LZTR1	HP:0000518	Cataract	HP:0040283	ORPHA:93921
8216	LZTR1	HP:0001840	Metatarsus adductus	-	OMIM:615777
8216	LZTR1	HP:0000520	Proptosis	2/4	OMIM:131300
8216	LZTR1	HP:0000520	Proptosis	7/7	OMIM:615777
8216	LZTR1	HP:0000520	Proptosis	HP:0040281	ORPHA:648
8216	LZTR1	HP:0000506	Telecanthus	2/20	OMIM:605275
8216	LZTR1	HP:0000509	Conjunctivitis	-	OMIM:153400
8216	LZTR1	HP:0000508	Ptosis	14/16	OMIM:616564
8216	LZTR1	HP:0000508	Ptosis	2/39	OMIM:153400
8216	LZTR1	HP:0000508	Ptosis	10/26	OMIM:605275
8216	LZTR1	HP:0000508	Ptosis	HP:0040281	ORPHA:648
8216	LZTR1	HP:0012569	Delayed menarche	HP:0040283	ORPHA:648
8216	LZTR1	HP:0000592	Blue sclerae	2/7	OMIM:615777
8216	LZTR1	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:648
8216	LZTR1	HP:0000568	Microphthalmia	1/6	OMIM:153400
8216	LZTR1	HP:0012531	Pain	HP:0040282	ORPHA:93921
8216	LZTR1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8216	LZTR1	HP:0012514	Lower limb pain	4/4	OMIM:131300
8218	CLTCL1	HP:0012044	Seesaw nystagmus	HP:0040283	ORPHA:453510
8218	CLTCL1	HP:0008780	Congenital bilateral hip dislocation	HP:0040283	ORPHA:453510
8218	CLTCL1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:453510
8218	CLTCL1	HP:0008947	Floppy infant	HP:0040283	ORPHA:453510
8218	CLTCL1	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:453510
8218	CLTCL1	HP:0002754	Osteomyelitis	HP:0040282	ORPHA:453510
8218	CLTCL1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:453510
8218	CLTCL1	HP:0002188	Delayed CNS myelination	HP:0040282	ORPHA:453510
8218	CLTCL1	HP:0007021	Pain insensitivity	HP:0040282	ORPHA:453510
8218	CLTCL1	HP:0010841	Multifocal epileptiform discharges	HP:0040283	ORPHA:453510
8218	CLTCL1	HP:0200020	Corneal erosion	HP:0040283	ORPHA:453510
8218	CLTCL1	HP:0010830	Impaired tactile sensation	HP:0040282	ORPHA:453510
8218	CLTCL1	HP:0009826	Limb undergrowth	HP:0040283	ORPHA:453510
8218	CLTCL1	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:453510
8218	CLTCL1	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:453510
8218	CLTCL1	HP:0012745	Short palpebral fissure	HP:0040283	ORPHA:453510
8218	CLTCL1	HP:0000742	Self-mutilation	HP:0040282	ORPHA:453510
8218	CLTCL1	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:453510
8218	CLTCL1	HP:0008000	Decreased corneal reflex	HP:0040282	ORPHA:453510
8218	CLTCL1	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:453510
8218	CLTCL1	HP:0001518	Small for gestational age	HP:0040283	ORPHA:453510
8218	CLTCL1	HP:0000347	Micrognathia	HP:0040283	ORPHA:453510
8218	CLTCL1	HP:0002982	Tibial bowing	HP:0040283	ORPHA:453510
8218	CLTCL1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:453510
8218	CLTCL1	HP:0000486	Strabismus	HP:0040282	ORPHA:453510
8218	CLTCL1	HP:0000491	Keratitis	HP:0040282	ORPHA:453510
8218	CLTCL1	HP:0001772	Talipes equinovalgus	HP:0040283	ORPHA:453510
8218	CLTCL1	HP:0000448	Prominent nose	HP:0040283	ORPHA:453510
8218	CLTCL1	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:453510
8220	ESS2	HP:0001155	Abnormality of the hand	-	OMIM:192430
8220	ESS2	HP:0001252	Hypotonia	29/38	OMIM:192430
8220	ESS2	HP:0001249	Intellectual disability	31/38	OMIM:192430
8220	ESS2	HP:0000023	Inguinal hernia	3/38	OMIM:192430
8220	ESS2	HP:0000028	Cryptorchidism	3/38	OMIM:192430
8220	ESS2	HP:0001328	Specific learning disability	-	OMIM:192430
8220	ESS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:192430
8220	ESS2	HP:0002627	Right aortic arch with mirror image branching	-	OMIM:192430
8220	ESS2	HP:0000194	Open mouth	-	OMIM:192430
8220	ESS2	HP:0000176	Submucous cleft hard palate	15/38	OMIM:192430
8220	ESS2	HP:0000175	Cleft palate	7/38	OMIM:192430
8220	ESS2	HP:0002719	Recurrent infections	-	OMIM:192430
8220	ESS2	HP:0011840	Abnormality of T cell physiology	2/38	OMIM:192430
8220	ESS2	HP:0011999	Paranoia	-	OMIM:192430
8220	ESS2	HP:0004935	Pulmonary artery atresia	2/16	OMIM:192430
8220	ESS2	HP:0000627	Posterior embryotoxon	-	OMIM:192430
8220	ESS2	HP:0004322	Short stature	24/38	OMIM:192430
8220	ESS2	HP:0000718	Aggressive behavior	-	OMIM:192430
8220	ESS2	HP:0000712	Emotional lability	-	OMIM:192430
8220	ESS2	HP:0012841	Retinal vascular tortuosity	-	OMIM:192430
8220	ESS2	HP:0000829	Hypoparathyroidism	3/38	OMIM:192430
8220	ESS2	HP:0011590	Double aortic arch	1/16	OMIM:192430
8220	ESS2	HP:0011611	Interrupted aortic arch	2/16	OMIM:192430
8220	ESS2	HP:0045025	Narrow palpebral fissure	-	OMIM:192430
8220	ESS2	HP:0000278	Retrognathia	-	OMIM:192430
8220	ESS2	HP:0000252	Microcephaly	-	OMIM:192430
8220	ESS2	HP:0000220	Velopharyngeal insufficiency	38/38	OMIM:192430
8220	ESS2	HP:0001537	Umbilical hernia	2/38	OMIM:192430
8220	ESS2	HP:0000201	Pierre-Robin sequence	-	OMIM:192430
8220	ESS2	HP:0006549	Unilateral primary pulmonary dysgenesis	-	OMIM:192430
8220	ESS2	HP:0001611	Hypernasal speech	-	OMIM:192430
8220	ESS2	HP:0002901	Hypocalcemia	5/38	OMIM:192430
8220	ESS2	HP:0001629	Ventricular septal defect	-	OMIM:192430
8220	ESS2	HP:0001636	Tetralogy of Fallot	3/16	OMIM:192430
8220	ESS2	HP:0000414	Bulbous nose	-	OMIM:192430
8220	ESS2	HP:0000430	Underdeveloped nasal alae	-	OMIM:192430
8220	ESS2	HP:0000598	Abnormality of the ear	-	OMIM:192430
8220	ESS2	HP:0000581	Blepharophimosis	-	OMIM:192430
8220	ESS2	HP:0001883	Talipes	4/38	OMIM:192430
8239	USP9X	HP:0001182	Tapered finger	HP:0040283	ORPHA:480880
8239	USP9X	HP:0001182	Tapered finger	-	OMIM:300968
8239	USP9X	HP:0001290	Generalized hypotonia	8/17	OMIM:300968
8239	USP9X	HP:0001288	Gait disturbance	HP:0040283	ORPHA:480880
8239	USP9X	HP:0001250	Seizure	4/17	OMIM:300968
8239	USP9X	HP:0001250	Seizure	HP:0040283	ORPHA:480880
8239	USP9X	HP:0001252	Hypotonia	5/5	OMIM:300919
8239	USP9X	HP:0001249	Intellectual disability	5/5	OMIM:300919
8239	USP9X	HP:0001249	Intellectual disability	-	OMIM:300968
8239	USP9X	HP:0001263	Global developmental delay	-	OMIM:300919
8239	USP9X	HP:0001263	Global developmental delay	17/17	OMIM:300968
8239	USP9X	HP:0001263	Global developmental delay	HP:0040281	ORPHA:480880
8239	USP9X	HP:0002557	Hypoplastic nipples	HP:0040283	ORPHA:480880
8239	USP9X	HP:0001238	Slender finger	HP:0040283	ORPHA:480880
8239	USP9X	HP:0100890	Cyst of the ductus choledochus	HP:0040283	ORPHA:480880
8239	USP9X	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:480880
8239	USP9X	HP:0002536	Abnormal cortical gyration	HP:0040282	ORPHA:480880
8239	USP9X	HP:0002536	Abnormal cortical gyration	5/10	OMIM:300968
8239	USP9X	HP:0000086	Ectopic kidney	1/5	OMIM:300919
8239	USP9X	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:480880
8239	USP9X	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:480880
8239	USP9X	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:480880
8239	USP9X	HP:0001385	Hip dysplasia	8/17	OMIM:300968
8239	USP9X	HP:0001382	Joint hypermobility	1/5	OMIM:300919
8239	USP9X	HP:0001382	Joint hypermobility	-	OMIM:300968
8239	USP9X	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000047	Hypospadias	1/5	OMIM:300919
8239	USP9X	HP:0007483	Depigmentation/hyperpigmentation of skin	HP:0040282	ORPHA:480880
8239	USP9X	HP:0002664	Neoplasm	HP:0040283	ORPHA:480880
8239	USP9X	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:480880
8239	USP9X	HP:0001305	Dandy-Walker malformation	5/13	OMIM:300968
8239	USP9X	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:480880
8239	USP9X	HP:0002650	Scoliosis	11/17	OMIM:300968
8239	USP9X	HP:0002650	Scoliosis	HP:0040283	ORPHA:480880
8239	USP9X	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:480880
8239	USP9X	HP:0001321	Cerebellar hypoplasia	6/11	OMIM:300968
8239	USP9X	HP:0000193	Bifid uvula	5/17	OMIM:300968
8239	USP9X	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000164	Abnormality of the dentition	-	OMIM:300968
8239	USP9X	HP:0000175	Cleft palate	-	OMIM:300968
8239	USP9X	HP:0000175	Cleft palate	HP:0040283	ORPHA:480880
8239	USP9X	HP:0410026	Abnormal periodontium morphology	HP:0040283	ORPHA:480880
8239	USP9X	HP:0008947	Floppy infant	HP:0040282	ORPHA:480880
8239	USP9X	HP:0002779	Tracheomalacia	1/5	OMIM:300919
8239	USP9X	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:480880
8239	USP9X	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000126	Hydronephrosis	-	OMIM:300968
8239	USP9X	HP:0001423	X-linked dominant inheritance	-	OMIM:300968
8239	USP9X	HP:0000110	Renal dysplasia	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000110	Renal dysplasia	-	OMIM:300968
8239	USP9X	HP:0001419	X-linked recessive inheritance	-	OMIM:300919
8239	USP9X	HP:0002023	Anal atresia	HP:0040282	ORPHA:480880
8239	USP9X	HP:0002023	Anal atresia	9/17	OMIM:300968
8239	USP9X	HP:0002020	Gastroesophageal reflux	1/5	OMIM:300919
8239	USP9X	HP:0002098	Respiratory distress	HP:0040283	ORPHA:480880
8239	USP9X	HP:0002098	Respiratory distress	-	OMIM:300968
8239	USP9X	HP:0030928	1-minute APGAR score of 1	HP:0040283	ORPHA:480880
8239	USP9X	HP:0030925	5-minute APGAR score of 5	HP:0040283	ORPHA:480880
8239	USP9X	HP:0100559	Lower limb asymmetry	7/17	OMIM:300968
8239	USP9X	HP:0002079	Hypoplasia of the corpus callosum	8/13	OMIM:300968
8239	USP9X	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:480880
8239	USP9X	HP:0010499	Patellar subluxation	HP:0040283	ORPHA:480880
8239	USP9X	HP:0002119	Ventriculomegaly	8/11	OMIM:300968
8239	USP9X	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:480880
8239	USP9X	HP:0002198	Dilated fourth ventricle	HP:0040283	ORPHA:480880
8239	USP9X	HP:0002212	Curly hair	HP:0040283	ORPHA:480880
8239	USP9X	HP:0002205	Recurrent respiratory infections	9/17	OMIM:300968
8239	USP9X	HP:0200117	Recurrent upper and lower respiratory tract infections	HP:0040283	ORPHA:480880
8239	USP9X	HP:0011968	Feeding difficulties	-	OMIM:300968
8239	USP9X	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:480880
8239	USP9X	HP:0002365	Hypoplasia of the brainstem	HP:0040283	ORPHA:480880
8239	USP9X	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:480880
8239	USP9X	HP:0200055	Small hand	HP:0040283	ORPHA:480880
8239	USP9X	HP:0200055	Small hand	-	OMIM:300968
8239	USP9X	HP:0004298	Abnormality of the abdominal wall	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000601	Hypotelorism	-	OMIM:300968
8239	USP9X	HP:0010055	Broad hallux	1/5	OMIM:300919
8239	USP9X	HP:0000692	Tooth malposition	HP:0040283	ORPHA:480880
8239	USP9X	HP:0011304	Broad thumb	2/5	OMIM:300919
8239	USP9X	HP:0004322	Short stature	-	OMIM:300968
8239	USP9X	HP:0004322	Short stature	HP:0040282	ORPHA:480880
8239	USP9X	HP:0012745	Short palpebral fissure	HP:0040283	ORPHA:480880
8239	USP9X	HP:0012745	Short palpebral fissure	-	OMIM:300968
8239	USP9X	HP:0000750	Delayed speech and language development	-	OMIM:300968
8239	USP9X	HP:0000718	Aggressive behavior	1/5	OMIM:300919
8239	USP9X	HP:0000729	Autistic behavior	1/5	OMIM:300919
8239	USP9X	HP:0000722	Compulsive behaviors	1/5	OMIM:300919
8239	USP9X	HP:0005722	Hyperextensible thumb	HP:0040283	ORPHA:480880
8239	USP9X	HP:0004482	Relative macrocephaly	1/5	OMIM:300919
8239	USP9X	HP:0012813	Unilateral breast hypoplasia	5/17	OMIM:300968
8239	USP9X	HP:0012810	Wide nasal base	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000823	Delayed puberty	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000998	Hypertrichosis	5/17	OMIM:300968
8239	USP9X	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:480880
8239	USP9X	HP:0100259	Postaxial polydactyly	9/17	OMIM:300968
8239	USP9X	HP:0000960	Sacral dimple	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000960	Sacral dimple	5/17	OMIM:300968
8239	USP9X	HP:0000938	Osteopenia	HP:0040283	ORPHA:480880
8239	USP9X	HP:0002827	Hip dislocation	-	OMIM:300968
8239	USP9X	HP:0000248	Brachycephaly	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000248	Brachycephaly	-	OMIM:300968
8239	USP9X	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000218	High palate	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:480880
8239	USP9X	HP:0001511	Intrauterine growth retardation	1/5	OMIM:300919
8239	USP9X	HP:0031508	Abnormal circulating thyroid hormone concentration	HP:0040283	ORPHA:480880
8239	USP9X	HP:0002944	Thoracolumbar scoliosis	HP:0040283	ORPHA:480880
8239	USP9X	HP:0002926	Abnormality of thyroid physiology	6/17	OMIM:300968
8239	USP9X	HP:0000365	Hearing impairment	11/17	OMIM:300968
8239	USP9X	HP:0000365	Hearing impairment	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000358	Posteriorly rotated ears	-	OMIM:300968
8239	USP9X	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000369	Low-set ears	-	OMIM:300968
8239	USP9X	HP:0000369	Low-set ears	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000341	Narrow forehead	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000341	Narrow forehead	-	OMIM:300968
8239	USP9X	HP:0000343	Long philtrum	-	OMIM:300968
8239	USP9X	HP:0000343	Long philtrum	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000319	Smooth philtrum	-	OMIM:300968
8239	USP9X	HP:0001643	Patent ductus arteriosus	-	OMIM:300968
8239	USP9X	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000324	Facial asymmetry	-	OMIM:300968
8239	USP9X	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:480880
8239	USP9X	HP:0001631	Atrial septal defect	-	OMIM:300968
8239	USP9X	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:480880
8239	USP9X	HP:0005272	Prominent nasolabial fold	HP:0040283	ORPHA:480880
8239	USP9X	HP:0005280	Depressed nasal bridge	-	OMIM:300968
8239	USP9X	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000483	Astigmatism	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000483	Astigmatism	-	OMIM:300968
8239	USP9X	HP:0000486	Strabismus	-	OMIM:300968
8239	USP9X	HP:0000486	Strabismus	HP:0040283	ORPHA:480880
8239	USP9X	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:480880
8239	USP9X	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:480880
8239	USP9X	HP:0012444	Brain atrophy	HP:0040283	ORPHA:480880
8239	USP9X	HP:0012450	Chronic constipation	1/5	OMIM:300919
8239	USP9X	HP:0000454	Flared nostrils	HP:0040283	ORPHA:480880
8239	USP9X	HP:0001773	Short foot	HP:0040283	ORPHA:480880
8239	USP9X	HP:0001773	Short foot	-	OMIM:300968
8239	USP9X	HP:0001763	Pes planus	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000453	Choanal atresia	HP:0040282	ORPHA:480880
8239	USP9X	HP:0000453	Choanal atresia	6/17	OMIM:300968
8239	USP9X	HP:0000448	Prominent nose	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000448	Prominent nose	-	OMIM:300968
8239	USP9X	HP:0000414	Bulbous nose	-	OMIM:300968
8239	USP9X	HP:0000431	Wide nasal bridge	-	OMIM:300968
8239	USP9X	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:480880
8239	USP9X	HP:0001761	Pes cavus	-	OMIM:300968
8239	USP9X	HP:0001761	Pes cavus	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000518	Cataract	-	OMIM:300968
8239	USP9X	HP:0000518	Cataract	HP:0040283	ORPHA:480880
8239	USP9X	HP:0001845	Overlapping toe	HP:0040283	ORPHA:480880
8239	USP9X	HP:0001822	Hallux valgus	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000506	Telecanthus	HP:0040283	ORPHA:480880
8239	USP9X	HP:0004095	Curved fingers	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:480880
8239	USP9X	HP:0011220	Prominent forehead	1/5	OMIM:300919
8239	USP9X	HP:0011220	Prominent forehead	HP:0040283	ORPHA:480880
8239	USP9X	HP:0011220	Prominent forehead	-	OMIM:300968
8239	USP9X	HP:0000540	Hypermetropia	HP:0040283	ORPHA:480880
8239	USP9X	HP:0000540	Hypermetropia	-	OMIM:300968
8239	USP9X	HP:0000545	Myopia	-	OMIM:300968
8239	USP9X	HP:0000545	Myopia	HP:0040283	ORPHA:480880
8241	RBM10	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2886
8241	RBM10	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:2886
8241	RBM10	HP:0009891	Underdeveloped supraorbital ridges	-	OMIM:311900
8241	RBM10	HP:0008551	Microtia	-	OMIM:311900
8241	RBM10	HP:0001290	Generalized hypotonia	-	OMIM:311900
8241	RBM10	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:2886
8241	RBM10	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:2886
8241	RBM10	HP:0001250	Seizure	1/2	OMIM:311900
8241	RBM10	HP:0001250	Seizure	HP:0040283	ORPHA:2886
8241	RBM10	HP:0001252	Hypotonia	1/2	OMIM:311900
8241	RBM10	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2886
8241	RBM10	HP:0001263	Global developmental delay	-	OMIM:311900
8241	RBM10	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2886
8241	RBM10	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:2886
8241	RBM10	HP:0003811	Neonatal death	3/3	OMIM:311900
8241	RBM10	HP:0000085	Horseshoe kidney	-	OMIM:311900
8241	RBM10	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:2886
8241	RBM10	HP:0001399	Hepatic failure	1/2	OMIM:311900
8241	RBM10	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2886
8241	RBM10	HP:0006191	Deep palmar crease	-	OMIM:311900
8241	RBM10	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:311900
8241	RBM10	HP:0002650	Scoliosis	HP:0040283	ORPHA:2886
8241	RBM10	HP:0001321	Cerebellar hypoplasia	-	OMIM:311900
8241	RBM10	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:2886
8241	RBM10	HP:0000199	Tongue nodules	HP:0040284	ORPHA:2886
8241	RBM10	HP:0000199	Tongue nodules	HP:0040283	OMIM:311900
8241	RBM10	HP:0000162	Glossoptosis	HP:0040282	ORPHA:2886
8241	RBM10	HP:0000162	Glossoptosis	1/2	OMIM:311900
8241	RBM10	HP:0000175	Cleft palate	3/3	OMIM:311900
8241	RBM10	HP:0000175	Cleft palate	HP:0040282	ORPHA:2886
8241	RBM10	HP:0000126	Hydronephrosis	-	OMIM:311900
8241	RBM10	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2886
8241	RBM10	HP:0001419	X-linked recessive inheritance	-	OMIM:311900
8241	RBM10	HP:0002089	Pulmonary hypoplasia	HP:0040284	ORPHA:2886
8241	RBM10	HP:0002136	Broad-based gait	HP:0040283	ORPHA:2886
8241	RBM10	HP:0002104	Apnea	HP:0040283	ORPHA:2886
8241	RBM10	HP:0002245	Meckel diverticulum	1/2	OMIM:311900
8241	RBM10	HP:0002246	Abnormal duodenum morphology	HP:0040284	ORPHA:2886
8241	RBM10	HP:0003577	Congenital onset	3/3	OMIM:311900
8241	RBM10	HP:0009738	Abnormal antihelix morphology	HP:0040283	ORPHA:2886
8241	RBM10	HP:0010720	Abnormal hair pattern	HP:0040284	ORPHA:2886
8241	RBM10	HP:0002305	Athetosis	1/3	OMIM:311900
8241	RBM10	HP:0009085	Alveolar ridge overgrowth	HP:0040284	ORPHA:2886
8241	RBM10	HP:0000648	Optic atrophy	HP:0040283	OMIM:311900
8241	RBM10	HP:0000648	Optic atrophy	HP:0040284	ORPHA:2886
8241	RBM10	HP:0001978	Extramedullary hematopoiesis	HP:0040283	ORPHA:2886
8241	RBM10	HP:0012745	Short palpebral fissure	-	OMIM:311900
8241	RBM10	HP:0012745	Short palpebral fissure	HP:0040283	ORPHA:2886
8241	RBM10	HP:0000767	Pectus excavatum	HP:0040283	OMIM:311900
8241	RBM10	HP:0000767	Pectus excavatum	HP:0040284	ORPHA:2886
8241	RBM10	HP:0012725	Cutaneous syndactyly	-	OMIM:311900
8241	RBM10	HP:0011445	Athetoid cerebral palsy	HP:0040284	ORPHA:2886
8241	RBM10	HP:0100309	Subdural hemorrhage	1/3	OMIM:311900
8241	RBM10	HP:0004492	Widely patent fontanelles and sutures	HP:0040283	ORPHA:2886
8241	RBM10	HP:0000879	Short sternum	HP:0040284	ORPHA:2886
8241	RBM10	HP:0000879	Short sternum	HP:0040283	OMIM:311900
8241	RBM10	HP:0100259	Postaxial polydactyly	HP:0040284	ORPHA:2886
8241	RBM10	HP:0100259	Postaxial polydactyly	HP:0040283	OMIM:311900
8241	RBM10	HP:0000954	Single transverse palmar crease	-	OMIM:311900
8241	RBM10	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:2886
8241	RBM10	HP:0000961	Cyanosis	HP:0040282	ORPHA:2886
8241	RBM10	HP:0006434	Hypoplasia of proximal radius	HP:0040283	ORPHA:2886
8241	RBM10	HP:0030084	Clinodactyly	-	OMIM:311900
8241	RBM10	HP:0030084	Clinodactyly	HP:0040283	ORPHA:2886
8241	RBM10	HP:0000239	Large fontanelles	HP:0040283	ORPHA:2886
8241	RBM10	HP:0000239	Large fontanelles	-	OMIM:311900
8241	RBM10	HP:0000218	High palate	-	OMIM:311900
8241	RBM10	HP:0001562	Oligohydramnios	1/2	OMIM:311900
8241	RBM10	HP:0000201	Pierre-Robin sequence	HP:0040281	ORPHA:2886
8241	RBM10	HP:0001508	Failure to thrive	-	OMIM:311900
8241	RBM10	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2886
8241	RBM10	HP:0001511	Intrauterine growth retardation	1/2	OMIM:311900
8241	RBM10	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2886
8241	RBM10	HP:0000385	Small earlobe	HP:0040283	ORPHA:2886
8241	RBM10	HP:0000395	Prominent antihelix	HP:0040283	ORPHA:2886
8241	RBM10	HP:0000395	Prominent antihelix	-	OMIM:311900
8241	RBM10	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2886
8241	RBM10	HP:0000358	Posteriorly rotated ears	-	OMIM:311900
8241	RBM10	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:2886
8241	RBM10	HP:0000369	Low-set ears	1/2	OMIM:311900
8241	RBM10	HP:0000340	Sloping forehead	HP:0040282	ORPHA:2886
8241	RBM10	HP:0000347	Micrognathia	13/13	OMIM:311900
8241	RBM10	HP:0000347	Micrognathia	HP:0040282	ORPHA:2886
8241	RBM10	HP:0000316	Hypertelorism	-	OMIM:311900
8241	RBM10	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2886
8241	RBM10	HP:0002984	Hypoplasia of the radius	-	OMIM:311900
8241	RBM10	HP:0001636	Tetralogy of Fallot	HP:0040283	OMIM:311900
8241	RBM10	HP:0001636	Tetralogy of Fallot	HP:0040284	ORPHA:2886
8241	RBM10	HP:0001631	Atrial septal defect	1/3	OMIM:311900
8241	RBM10	HP:0001631	Atrial septal defect	HP:0040281	ORPHA:2886
8241	RBM10	HP:0005301	Persistent left superior vena cava	HP:0040281	ORPHA:2886
8241	RBM10	HP:0000463	Anteverted nares	-	OMIM:311900
8241	RBM10	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2886
8241	RBM10	HP:0001788	Premature rupture of membranes	1/2	OMIM:311900
8241	RBM10	HP:0001776	Bilateral talipes equinovarus	1/3	OMIM:311900
8241	RBM10	HP:0001762	Talipes equinovarus	1/2	OMIM:311900
8241	RBM10	HP:0001762	Talipes equinovarus	HP:0040281	ORPHA:2886
8241	RBM10	HP:0000431	Wide nasal bridge	-	OMIM:311900
8241	RBM10	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:2886
8241	RBM10	HP:0001838	Rocker bottom foot	HP:0040282	ORPHA:2886
8241	RBM10	HP:0001838	Rocker bottom foot	1/2	OMIM:311900
8241	RBM10	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:2886
8241	RBM10	HP:0000545	Myopia	HP:0040283	ORPHA:2886
8242	KDM5C	HP:0001176	Large hands	2/2	OMIM:300534
8242	KDM5C	HP:0001182	Tapered finger	HP:0040283	ORPHA:85279
8242	KDM5C	HP:0001156	Brachydactyly	-	OMIM:300534
8242	KDM5C	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:85279
8242	KDM5C	HP:0010864	Intellectual disability, severe	8/8	OMIM:300534
8242	KDM5C	HP:0009882	Short distal phalanx of finger	-	OMIM:300534
8242	KDM5C	HP:0001270	Motor delay	3/3	OMIM:300534
8242	KDM5C	HP:0001250	Seizure	HP:0040282	ORPHA:85279
8242	KDM5C	HP:0001250	Seizure	8/35	OMIM:300534
8242	KDM5C	HP:0001249	Intellectual disability	25/26	OMIM:300534
8242	KDM5C	HP:0001263	Global developmental delay	3/3	OMIM:300534
8242	KDM5C	HP:0001257	Spasticity	HP:0040282	ORPHA:85279
8242	KDM5C	HP:0001257	Spasticity	7/20	OMIM:300534
8242	KDM5C	HP:0008734	Decreased testicular size	3/29	OMIM:300534
8242	KDM5C	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:85279
8242	KDM5C	HP:0001371	Flexion contracture	1/6	OMIM:300534
8242	KDM5C	HP:0000054	Micropenis	1/20	OMIM:300534
8242	KDM5C	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:85279
8242	KDM5C	HP:0001347	Hyperreflexia	3/6	OMIM:300534
8242	KDM5C	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:85279
8242	KDM5C	HP:0000028	Cryptorchidism	2/20	OMIM:300534
8242	KDM5C	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:85279
8242	KDM5C	HP:0008944	Distal lower limb amyotrophy	-	OMIM:300534
8242	KDM5C	HP:0002788	Recurrent upper respiratory tract infections	3/3	OMIM:300534
8242	KDM5C	HP:0001419	X-linked recessive inheritance	-	OMIM:300534
8242	KDM5C	HP:0008124	Talipes calcaneovarus	-	OMIM:300534
8242	KDM5C	HP:0003487	Babinski sign	-	OMIM:300534
8242	KDM5C	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:85279
8242	KDM5C	HP:0002232	Patchy alopecia	1/20	OMIM:300534
8242	KDM5C	HP:0002232	Patchy alopecia	HP:0040281	ORPHA:85279
8242	KDM5C	HP:0002205	Recurrent respiratory infections	3/3	OMIM:300534
8242	KDM5C	HP:0007020	Progressive spastic paraplegia	-	OMIM:300534
8242	KDM5C	HP:0007021	Pain insensitivity	2/20	OMIM:300534
8242	KDM5C	HP:0002395	Lower limb hyperreflexia	-	OMIM:300534
8242	KDM5C	HP:0002362	Shuffling gait	-	OMIM:300534
8242	KDM5C	HP:0001081	Cholelithiasis	2/20	OMIM:300534
8242	KDM5C	HP:0004279	Short palm	HP:0040283	ORPHA:85279
8242	KDM5C	HP:0006895	Lower limb hypertonia	-	OMIM:300534
8242	KDM5C	HP:0000699	Diastema	6/22	OMIM:300534
8242	KDM5C	HP:0004325	Decreased body weight	3/3	OMIM:300534
8242	KDM5C	HP:0004322	Short stature	HP:0040282	ORPHA:85279
8242	KDM5C	HP:0004322	Short stature	13/18	OMIM:300534
8242	KDM5C	HP:0000752	Hyperactivity	3/3	OMIM:300534
8242	KDM5C	HP:0000767	Pectus excavatum	2/2	OMIM:300534
8242	KDM5C	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:85279
8242	KDM5C	HP:0000750	Delayed speech and language development	3/3	OMIM:300534
8242	KDM5C	HP:0000744	Low frustration tolerance	-	OMIM:300534
8242	KDM5C	HP:0000718	Aggressive behavior	13/38	OMIM:300534
8242	KDM5C	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:85279
8242	KDM5C	HP:0000717	Autism	HP:0040283	ORPHA:85279
8242	KDM5C	HP:0000711	Restlessness	-	OMIM:300534
8242	KDM5C	HP:0011463	Childhood onset	3/3	OMIM:300534
8242	KDM5C	HP:0000297	Facial hypotonia	-	OMIM:300534
8242	KDM5C	HP:0000256	Macrocephaly	HP:0040283	ORPHA:85279
8242	KDM5C	HP:0000256	Macrocephaly	2/20	OMIM:300534
8242	KDM5C	HP:0030084	Clinodactyly	HP:0040283	ORPHA:85279
8242	KDM5C	HP:0000252	Microcephaly	HP:0040283	ORPHA:85279
8242	KDM5C	HP:0000252	Microcephaly	7/20	OMIM:300534
8242	KDM5C	HP:0000221	Furrowed tongue	2/2	OMIM:300534
8242	KDM5C	HP:0000219	Thin upper lip vermilion	1/20	OMIM:300534
8242	KDM5C	HP:0000218	High palate	HP:0040283	ORPHA:85279
8242	KDM5C	HP:0000218	High palate	6/12	OMIM:300534
8242	KDM5C	HP:0001508	Failure to thrive	3/3	OMIM:300534
8242	KDM5C	HP:0000350	Small forehead	1/20	OMIM:300534
8242	KDM5C	HP:0032792	Tonic seizure	1/3	OMIM:300534
8242	KDM5C	HP:0000347	Micrognathia	1/20	OMIM:300534
8242	KDM5C	HP:0000319	Smooth philtrum	1/20	OMIM:300534
8242	KDM5C	HP:0000327	Hypoplasia of the maxilla	7/23	OMIM:300534
8242	KDM5C	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:85279
8242	KDM5C	HP:0002967	Cubitus valgus	2/2	OMIM:300534
8242	KDM5C	HP:0000303	Mandibular prognathia	2/20	OMIM:300534
8242	KDM5C	HP:0000400	Macrotia	2/2	OMIM:300534
8242	KDM5C	HP:0000486	Strabismus	HP:0040283	ORPHA:85279
8242	KDM5C	HP:0000486	Strabismus	11/29	OMIM:300534
8242	KDM5C	HP:0000490	Deeply set eye	1/20	OMIM:300534
8242	KDM5C	HP:0000490	Deeply set eye	HP:0040283	ORPHA:85279
8242	KDM5C	HP:0001773	Short foot	3/3	OMIM:300534
8242	KDM5C	HP:0000411	Protruding ear	3/6	OMIM:300534
8242	KDM5C	HP:0000411	Protruding ear	HP:0040283	ORPHA:85279
8242	KDM5C	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:85279
8242	KDM5C	HP:0001762	Talipes equinovarus	-	OMIM:300534
8242	KDM5C	HP:0000426	Prominent nasal bridge	2/6	OMIM:300534
8242	KDM5C	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:85279
8242	KDM5C	HP:0000582	Upslanted palpebral fissure	1/20	OMIM:300534
8242	KDM5C	HP:0000574	Thick eyebrow	1/6	OMIM:300534
8242	KDM5C	HP:0000540	Hypermetropia	3/20	OMIM:300534
8242	KDM5C	HP:0000545	Myopia	1/20	OMIM:300534
8243	SMC1A	HP:0001182	Tapered finger	1/10	OMIM:301044
8243	SMC1A	HP:0001156	Brachydactyly	-	OMIM:300590
8243	SMC1A	HP:0002465	Poor speech	-	OMIM:300590
8243	SMC1A	HP:0002465	Poor speech	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0002451	Limb dystonia	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:3095
8243	SMC1A	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0009932	Single naris	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0009914	Cyclopia	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0007281	Developmental stagnation	HP:0040283	ORPHA:3095
8243	SMC1A	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:199
8243	SMC1A	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:199
8243	SMC1A	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8243	SMC1A	HP:0025269	Panic attack	HP:0040283	ORPHA:3095
8243	SMC1A	HP:0001293	Cranial nerve compression	-	OMIM:131300
8243	SMC1A	HP:0001290	Generalized hypotonia	8/8	OMIM:301044
8243	SMC1A	HP:0001276	Hypertonia	1/1	OMIM:301044
8243	SMC1A	HP:0001276	Hypertonia	HP:0040281	ORPHA:199
8243	SMC1A	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0001288	Gait disturbance	HP:0040281	ORPHA:3095
8243	SMC1A	HP:0001285	Spastic tetraparesis	1/1	OMIM:301044
8243	SMC1A	HP:0001254	Lethargy	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:3095
8243	SMC1A	HP:0001250	Seizure	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0001250	Seizure	HP:0040283	OMIM:300590
8243	SMC1A	HP:0001250	Seizure	10/10	OMIM:301044
8243	SMC1A	HP:0001250	Seizure	HP:0040283	ORPHA:199
8243	SMC1A	HP:0001250	Seizure	HP:0040281	ORPHA:3095
8243	SMC1A	HP:0002580	Volvulus	HP:0040283	ORPHA:199
8243	SMC1A	HP:0001252	Hypotonia	HP:0040283	ORPHA:199
8243	SMC1A	HP:0001252	Hypotonia	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0001252	Hypotonia	2/7	OMIM:615777
8243	SMC1A	HP:0001249	Intellectual disability	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0001249	Intellectual disability	-	OMIM:300590
8243	SMC1A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:199
8243	SMC1A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3095
8243	SMC1A	HP:0001249	Intellectual disability	5/7	OMIM:615777
8243	SMC1A	HP:0001263	Global developmental delay	-	OMIM:300590
8243	SMC1A	HP:0001263	Global developmental delay	11/11	OMIM:301044
8243	SMC1A	HP:0001263	Global developmental delay	-	OMIM:615777
8243	SMC1A	HP:0001257	Spasticity	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0001257	Spasticity	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0002557	Hypoplastic nipples	HP:0040282	ORPHA:199
8243	SMC1A	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:199
8243	SMC1A	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:199
8243	SMC1A	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:199
8243	SMC1A	HP:0007359	Focal-onset seizure	1/1	OMIM:301044
8243	SMC1A	HP:0002540	Inability to walk	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0002540	Inability to walk	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0002553	Highly arched eyebrow	-	OMIM:300590
8243	SMC1A	HP:0002553	Highly arched eyebrow	1/1	OMIM:301044
8243	SMC1A	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:199
8243	SMC1A	HP:0002521	Hypsarrhythmia	1/1	OMIM:301044
8243	SMC1A	HP:0002515	Waddling gait	54/102	OMIM:131300
8243	SMC1A	HP:0002507	Semilobar holoprosencephaly	1/10	OMIM:301044
8243	SMC1A	HP:0002505	Loss of ambulation	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0003808	Abnormal muscle tone	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:199
8243	SMC1A	HP:0025387	Pill-rolling tremor	HP:0040283	ORPHA:3095
8243	SMC1A	HP:0000059	Hypoplastic labia majora	HP:0040282	ORPHA:199
8243	SMC1A	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:199
8243	SMC1A	HP:0001371	Flexion contracture	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0001385	Hip dysplasia	2/11	OMIM:301044
8243	SMC1A	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:199
8243	SMC1A	HP:0001387	Joint stiffness	HP:0040282	ORPHA:199
8243	SMC1A	HP:0001382	Joint hypermobility	-	OMIM:615777
8243	SMC1A	HP:0000047	Hypospadias	HP:0040282	ORPHA:199
8243	SMC1A	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8243	SMC1A	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:199
8243	SMC1A	HP:0008897	Postnatal growth retardation	-	OMIM:300590
8243	SMC1A	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8243	SMC1A	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199
8243	SMC1A	HP:0008850	Severe postnatal growth retardation	HP:0040282	ORPHA:199
8243	SMC1A	HP:0031165	Multifocal seizures	1/1	OMIM:301044
8243	SMC1A	HP:0001332	Dystonia	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0001328	Specific learning disability	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8243	SMC1A	HP:0001324	Muscle weakness	40/96	OMIM:131300
8243	SMC1A	HP:0001344	Absent speech	11/11	OMIM:301044
8243	SMC1A	HP:0001344	Absent speech	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8243	SMC1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8243	SMC1A	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:199
8243	SMC1A	HP:0001337	Tremor	HP:0040283	ORPHA:3095
8243	SMC1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8243	SMC1A	HP:0002650	Scoliosis	1/1	OMIM:301044
8243	SMC1A	HP:0002650	Scoliosis	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0002650	Scoliosis	HP:0040283	ORPHA:3095
8243	SMC1A	HP:0002650	Scoliosis	12/14	OMIM:131300
8243	SMC1A	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:3095
8243	SMC1A	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8243	SMC1A	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8243	SMC1A	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8243	SMC1A	HP:0012171	Stereotypical hand wringing	HP:0040281	ORPHA:3095
8243	SMC1A	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8243	SMC1A	HP:0000193	Bifid uvula	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0012165	Oligodactyly	HP:0040283	ORPHA:199
8243	SMC1A	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0000175	Cleft palate	2/10	OMIM:301044
8243	SMC1A	HP:0000175	Cleft palate	2/7	OMIM:615777
8243	SMC1A	HP:0000175	Cleft palate	HP:0040283	ORPHA:199
8243	SMC1A	HP:0000175	Cleft palate	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0007687	Unilateral ptosis	1/10	OMIM:301044
8243	SMC1A	HP:0007665	Curly eyelashes	HP:0040281	ORPHA:199
8243	SMC1A	HP:0006315	Solitary median maxillary central incisor	1/10	OMIM:301044
8243	SMC1A	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0008947	Floppy infant	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0008936	Axial hypotonia	1/1	OMIM:301044
8243	SMC1A	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:199
8243	SMC1A	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:3095
8243	SMC1A	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:199
8243	SMC1A	HP:0001423	X-linked dominant inheritance	-	OMIM:300590
8243	SMC1A	HP:0001423	X-linked dominant inheritance	-	OMIM:301044
8243	SMC1A	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:199
8243	SMC1A	HP:0001419	X-linked recessive inheritance	-	OMIM:300590
8243	SMC1A	HP:0002714	Downturned corners of mouth	-	OMIM:300590
8243	SMC1A	HP:0002714	Downturned corners of mouth	1/10	OMIM:301044
8243	SMC1A	HP:0002714	Downturned corners of mouth	HP:0040281	ORPHA:199
8243	SMC1A	HP:0032588	Hand apraxia	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:199
8243	SMC1A	HP:0002020	Gastroesophageal reflux	-	OMIM:300590
8243	SMC1A	HP:0002020	Gastroesophageal reflux	1/1	OMIM:301044
8243	SMC1A	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:199
8243	SMC1A	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0002019	Constipation	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0002033	Poor suck	HP:0040281	ORPHA:220386
8243	SMC1A	HP:0002015	Dysphagia	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0002013	Vomiting	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0005968	Temperature instability	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0011800	Midface retrusion	1/1	OMIM:301044
8243	SMC1A	HP:0100543	Cognitive impairment	-	OMIM:300590
8243	SMC1A	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:301044
8243	SMC1A	HP:0002066	Gait ataxia	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0002079	Hypoplasia of the corpus callosum	2/11	OMIM:301044
8243	SMC1A	HP:0003388	Easy fatigability	36/76	OMIM:131300
8243	SMC1A	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8243	SMC1A	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/10	OMIM:301044
8243	SMC1A	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:3095
8243	SMC1A	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:199
8243	SMC1A	HP:0002119	Ventriculomegaly	-	OMIM:300590
8243	SMC1A	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:199
8243	SMC1A	HP:0009623	Proximal placement of thumb	HP:0040281	ORPHA:199
8243	SMC1A	HP:0009623	Proximal placement of thumb	-	OMIM:300590
8243	SMC1A	HP:0002186	Apraxia	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:3095
8243	SMC1A	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:199
8243	SMC1A	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:199
8243	SMC1A	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0003577	Congenital onset	1/1	OMIM:301044
8243	SMC1A	HP:0100703	Tongue thrusting	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0002230	Generalized hirsutism	HP:0040281	ORPHA:199
8243	SMC1A	HP:0010711	1-2 toe syndactyly	1/10	OMIM:301044
8243	SMC1A	HP:0033349	Seizure cluster	7/10	OMIM:301044
8243	SMC1A	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:199
8243	SMC1A	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:220386
8243	SMC1A	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:3095
8243	SMC1A	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0003510	Severe short stature	7/7	OMIM:615777
8243	SMC1A	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:3095
8243	SMC1A	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:199
8243	SMC1A	HP:0002376	Developmental regression	HP:0040281	ORPHA:3095
8243	SMC1A	HP:0002371	Loss of speech	HP:0040281	ORPHA:3095
8243	SMC1A	HP:0001007	Hirsutism	-	OMIM:300590
8243	SMC1A	HP:0001007	Hirsutism	1/10	OMIM:301044
8243	SMC1A	HP:0002353	EEG abnormality	1/1	OMIM:301044
8243	SMC1A	HP:0002353	EEG abnormality	HP:0040281	ORPHA:3095
8243	SMC1A	HP:0002315	Headache	-	OMIM:131300
8243	SMC1A	HP:0004976	Knee dislocation	6/7	OMIM:615777
8243	SMC1A	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:199
8243	SMC1A	HP:0009803	Short phalanx of finger	-	OMIM:615777
8243	SMC1A	HP:0200055	Small hand	-	OMIM:300590
8243	SMC1A	HP:0200055	Small hand	1/1	OMIM:301044
8243	SMC1A	HP:0200055	Small hand	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0200055	Small hand	HP:0040281	ORPHA:199
8243	SMC1A	HP:0010773	Partial anomalous pulmonary venous return	1/10	OMIM:301044
8243	SMC1A	HP:0009763	Limb pain	63/92	OMIM:131300
8243	SMC1A	HP:0002300	Mutism	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0003621	Juvenile onset	-	OMIM:131300
8243	SMC1A	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8243	SMC1A	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:199
8243	SMC1A	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8243	SMC1A	HP:0000639	Nystagmus	HP:0040283	ORPHA:199
8243	SMC1A	HP:6001056	Out-toeing	-	OMIM:131300
8243	SMC1A	HP:0000651	Diplopia	-	OMIM:131300
8243	SMC1A	HP:0001956	Truncal obesity	HP:0040283	ORPHA:199
8243	SMC1A	HP:0001956	Truncal obesity	2/7	OMIM:615777
8243	SMC1A	HP:0000601	Hypotelorism	1/10	OMIM:301044
8243	SMC1A	HP:0000601	Hypotelorism	HP:0040281	ORPHA:220386
8243	SMC1A	HP:0001903	Anemia	HP:0040283	OMIM:131300
8243	SMC1A	HP:0010049	Short metacarpal	-	OMIM:615777
8243	SMC1A	HP:0010055	Broad hallux	1/10	OMIM:301044
8243	SMC1A	HP:0010034	Short 1st metacarpal	HP:0040281	ORPHA:199
8243	SMC1A	HP:0011344	Severe global developmental delay	1/1	OMIM:301044
8243	SMC1A	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:199
8243	SMC1A	HP:0000678	Dental crowding	1/1	OMIM:301044
8243	SMC1A	HP:0000678	Dental crowding	-	OMIM:615777
8243	SMC1A	HP:0000687	Widely spaced teeth	1/10	OMIM:301044
8243	SMC1A	HP:0000687	Widely spaced teeth	HP:0040281	ORPHA:199
8243	SMC1A	HP:0000670	Carious teeth	-	OMIM:131300
8243	SMC1A	HP:0011304	Broad thumb	2/7	OMIM:615777
8243	SMC1A	HP:0000668	Hypodontia	-	OMIM:615777
8243	SMC1A	HP:0000667	Phthisis bulbi	HP:0040282	ORPHA:199
8243	SMC1A	HP:0000664	Synophrys	-	OMIM:300590
8243	SMC1A	HP:0000664	Synophrys	1/1	OMIM:301044
8243	SMC1A	HP:0000664	Synophrys	-	OMIM:615777
8243	SMC1A	HP:0000664	Synophrys	HP:0040281	ORPHA:199
8243	SMC1A	HP:0004322	Short stature	HP:0040281	ORPHA:220386
8243	SMC1A	HP:0004322	Short stature	-	OMIM:300590
8243	SMC1A	HP:0004322	Short stature	HP:0040281	ORPHA:199
8243	SMC1A	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:3095
8243	SMC1A	HP:0004305	Involuntary movements	HP:0040281	ORPHA:3095
8243	SMC1A	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:199
8243	SMC1A	HP:0004396	Poor appetite	-	OMIM:131300
8243	SMC1A	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8243	SMC1A	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8243	SMC1A	HP:0003042	Elbow dislocation	HP:0040282	ORPHA:199
8243	SMC1A	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8243	SMC1A	HP:0003026	Short long bone	7/7	OMIM:615777
8243	SMC1A	HP:0031936	Delayed ability to walk	1/1	OMIM:301044
8243	SMC1A	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8243	SMC1A	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:3095
8243	SMC1A	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8243	SMC1A	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:199
8243	SMC1A	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8243	SMC1A	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8243	SMC1A	HP:0000737	Irritability	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0000739	Anxiety	HP:0040282	ORPHA:199
8243	SMC1A	HP:0000739	Anxiety	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0000733	Motor stereotypy	1/1	OMIM:301044
8243	SMC1A	HP:0000750	Delayed speech and language development	1/1	OMIM:301044
8243	SMC1A	HP:0000750	Delayed speech and language development	-	OMIM:615777
8243	SMC1A	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0000748	Inappropriate laughter	HP:0040283	ORPHA:3095
8243	SMC1A	HP:0000741	Apathy	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0000716	Depression	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0000717	Autism	HP:0040283	ORPHA:199
8243	SMC1A	HP:0000713	Agitation	HP:0040281	ORPHA:3095
8243	SMC1A	HP:0000729	Autistic behavior	HP:0040281	ORPHA:3095
8243	SMC1A	HP:0000729	Autistic behavior	2/10	OMIM:301044
8243	SMC1A	HP:0000723	Restrictive behavior	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:199
8243	SMC1A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0011461	Fetal onset	7/7	OMIM:615777
8243	SMC1A	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0000774	Narrow chest	2/7	OMIM:615777
8243	SMC1A	HP:0000776	Congenital diaphragmatic hernia	1/1	OMIM:301044
8243	SMC1A	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:199
8243	SMC1A	HP:0012760	Reduced social responsiveness	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:199
8243	SMC1A	HP:0003196	Short nose	1/1	OMIM:301044
8243	SMC1A	HP:0003196	Short nose	HP:0040281	ORPHA:199
8243	SMC1A	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0000926	Platyspondyly	1/7	OMIM:615777
8243	SMC1A	HP:0003180	Flat acetabular roof	-	OMIM:615777
8243	SMC1A	HP:0004482	Relative macrocephaly	-	OMIM:615777
8243	SMC1A	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8243	SMC1A	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0012806	Proboscis	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0000817	Reduced eye contact	1/1	OMIM:301044
8243	SMC1A	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:3095
8243	SMC1A	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0000823	Delayed puberty	-	OMIM:131300
8243	SMC1A	HP:0000823	Delayed puberty	HP:0040283	ORPHA:199
8243	SMC1A	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:199
8243	SMC1A	HP:0000894	Short clavicles	-	OMIM:615777
8243	SMC1A	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8243	SMC1A	HP:0045084	Limb myoclonus	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0010300	Abnormally low-pitched voice	HP:0040281	ORPHA:199
8243	SMC1A	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8243	SMC1A	HP:0000965	Cutis marmorata	HP:0040282	ORPHA:199
8243	SMC1A	HP:0000965	Cutis marmorata	-	OMIM:300590
8243	SMC1A	HP:0045005	Neural tube defect	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0000286	Epicanthus	1/7	OMIM:615777
8243	SMC1A	HP:0000280	Coarse facial features	2/7	OMIM:615777
8243	SMC1A	HP:0000278	Retrognathia	2/2	OMIM:301044
8243	SMC1A	HP:0000294	Low anterior hairline	-	OMIM:300590
8243	SMC1A	HP:0000294	Low anterior hairline	1/10	OMIM:301044
8243	SMC1A	HP:0000294	Low anterior hairline	HP:0040281	ORPHA:199
8243	SMC1A	HP:0000256	Macrocephaly	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0002827	Hip dislocation	3/7	OMIM:615777
8243	SMC1A	HP:0002827	Hip dislocation	HP:0040283	ORPHA:199
8243	SMC1A	HP:0002827	Hip dislocation	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0030084	Clinodactyly	-	OMIM:300590
8243	SMC1A	HP:0030084	Clinodactyly	1/1	OMIM:301044
8243	SMC1A	HP:0002808	Kyphosis	HP:0040283	ORPHA:3095
8243	SMC1A	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0000252	Microcephaly	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0000252	Microcephaly	-	OMIM:300590
8243	SMC1A	HP:0000252	Microcephaly	2/2	OMIM:301044
8243	SMC1A	HP:0000252	Microcephaly	HP:0040281	ORPHA:199
8243	SMC1A	HP:0000252	Microcephaly	-	OMIM:615777
8243	SMC1A	HP:0000248	Brachycephaly	-	OMIM:300590
8243	SMC1A	HP:0000248	Brachycephaly	HP:0040281	ORPHA:199
8243	SMC1A	HP:0002882	Sudden episodic apnea	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0000219	Thin upper lip vermilion	-	OMIM:300590
8243	SMC1A	HP:0000219	Thin upper lip vermilion	2/10	OMIM:301044
8243	SMC1A	HP:0000218	High palate	-	OMIM:300590
8243	SMC1A	HP:0000218	High palate	HP:0040281	ORPHA:199
8243	SMC1A	HP:0000218	High palate	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0002876	Episodic tachypnea	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:199
8243	SMC1A	HP:0001557	Prenatal movement abnormality	HP:0040283	ORPHA:199
8243	SMC1A	HP:0002857	Genu valgum	-	OMIM:131300
8243	SMC1A	HP:0002871	Central apnea	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0001533	Slender build	-	OMIM:131300
8243	SMC1A	HP:0001508	Failure to thrive	HP:0040282	ORPHA:199
8243	SMC1A	HP:0001508	Failure to thrive	HP:0040281	ORPHA:220386
8243	SMC1A	HP:0001511	Intrauterine growth retardation	-	OMIM:300590
8243	SMC1A	HP:0001511	Intrauterine growth retardation	1/1	OMIM:301044
8243	SMC1A	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8243	SMC1A	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:199
8243	SMC1A	HP:0001510	Growth delay	HP:0040283	ORPHA:3095
8243	SMC1A	HP:0001510	Growth delay	1/1	OMIM:301044
8243	SMC1A	HP:0001510	Growth delay	HP:0040281	ORPHA:220386
8243	SMC1A	HP:0007824	Total ophthalmoplegia	-	ORPHA:3095
8243	SMC1A	HP:0032807	Neonatal seizure	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0007807	Optic nerve compression	-	OMIM:131300
8243	SMC1A	HP:0012385	Camptodactyly	1/1	OMIM:301044
8243	SMC1A	HP:0012368	Flat face	7/7	OMIM:615777
8243	SMC1A	HP:0000396	Overfolded helix	1/10	OMIM:301044
8243	SMC1A	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8243	SMC1A	HP:0000365	Hearing impairment	10/67	OMIM:131300
8243	SMC1A	HP:0000358	Posteriorly rotated ears	3/10	OMIM:301044
8243	SMC1A	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:199
8243	SMC1A	HP:0000341	Narrow forehead	-	OMIM:300590
8243	SMC1A	HP:0000341	Narrow forehead	2/10	OMIM:301044
8243	SMC1A	HP:0000343	Long philtrum	1/7	OMIM:615777
8243	SMC1A	HP:0000343	Long philtrum	HP:0040281	ORPHA:199
8243	SMC1A	HP:0011001	Increased bone mineral density	-	OMIM:131300
8243	SMC1A	HP:0002996	Limited elbow movement	-	OMIM:300590
8243	SMC1A	HP:0000347	Micrognathia	-	OMIM:300590
8243	SMC1A	HP:0000347	Micrognathia	HP:0040281	ORPHA:199
8243	SMC1A	HP:0002983	Micromelia	HP:0040281	ORPHA:199
8243	SMC1A	HP:0000319	Smooth philtrum	-	OMIM:300590
8243	SMC1A	HP:0000319	Smooth philtrum	4/11	OMIM:301044
8243	SMC1A	HP:0000311	Round face	1/1	OMIM:301044
8243	SMC1A	HP:0000311	Round face	2/7	OMIM:615777
8243	SMC1A	HP:0002974	Radioulnar synostosis	HP:0040282	ORPHA:199
8243	SMC1A	HP:0000322	Short philtrum	1/10	OMIM:301044
8243	SMC1A	HP:0000325	Triangular face	1/1	OMIM:301044
8243	SMC1A	HP:0000324	Facial asymmetry	1/10	OMIM:301044
8243	SMC1A	HP:0001629	Ventricular septal defect	1/10	OMIM:301044
8243	SMC1A	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:199
8243	SMC1A	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:220386
8243	SMC1A	HP:0001622	Premature birth	HP:0040282	ORPHA:199
8243	SMC1A	HP:0002970	Genu varum	-	OMIM:615777
8243	SMC1A	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	OMIM:300590
8243	SMC1A	HP:0001631	Atrial septal defect	3/10	OMIM:301044
8243	SMC1A	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:199
8243	SMC1A	HP:0000303	Mandibular prognathia	-	OMIM:131300
8243	SMC1A	HP:0000498	Blepharitis	HP:0040282	ORPHA:199
8243	SMC1A	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:199
8243	SMC1A	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:199
8243	SMC1A	HP:0000400	Macrotia	HP:0040283	ORPHA:199
8243	SMC1A	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8243	SMC1A	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:199
8243	SMC1A	HP:0030215	Inappropriate crying	HP:0040283	ORPHA:3095
8243	SMC1A	HP:0000486	Strabismus	HP:0040283	ORPHA:199
8243	SMC1A	HP:0000482	Microcornea	HP:0040282	ORPHA:199
8243	SMC1A	HP:0012469	Infantile spasms	1/1	OMIM:301044
8243	SMC1A	HP:0012469	Infantile spasms	HP:0040283	ORPHA:3095
8243	SMC1A	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:220386
8243	SMC1A	HP:0000494	Downslanted palpebral fissures	-	OMIM:300590
8243	SMC1A	HP:0000494	Downslanted palpebral fissures	1/10	OMIM:301044
8243	SMC1A	HP:0000490	Deeply set eye	1/10	OMIM:301044
8243	SMC1A	HP:0000463	Anteverted nares	-	OMIM:300590
8243	SMC1A	HP:0000463	Anteverted nares	1/10	OMIM:301044
8243	SMC1A	HP:0000463	Anteverted nares	HP:0040281	ORPHA:199
8243	SMC1A	HP:0000460	Narrow nose	1/1	OMIM:301044
8243	SMC1A	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:220386
8243	SMC1A	HP:0000470	Short neck	-	OMIM:300590
8243	SMC1A	HP:0000470	Short neck	1/7	OMIM:615777
8243	SMC1A	HP:0000470	Short neck	HP:0040281	ORPHA:199
8243	SMC1A	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:199
8243	SMC1A	HP:0001773	Short foot	-	OMIM:300590
8243	SMC1A	HP:0001773	Short foot	1/1	OMIM:301044
8243	SMC1A	HP:0001773	Short foot	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0001773	Short foot	HP:0040281	ORPHA:199
8243	SMC1A	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8243	SMC1A	HP:0001763	Pes planus	1/7	OMIM:615777
8243	SMC1A	HP:0000453	Choanal atresia	1/10	OMIM:301044
8243	SMC1A	HP:0000453	Choanal atresia	HP:0040283	ORPHA:199
8243	SMC1A	HP:0000413	Atresia of the external auditory canal	HP:0040281	ORPHA:199
8243	SMC1A	HP:0000426	Prominent nasal bridge	-	OMIM:300590
8243	SMC1A	HP:0005484	Secondary microcephaly	HP:0040282	ORPHA:3095
8243	SMC1A	HP:0000518	Cataract	HP:0040283	ORPHA:199
8243	SMC1A	HP:0001840	Metatarsus adductus	-	OMIM:615777
8243	SMC1A	HP:0000527	Long eyelashes	-	OMIM:300590
8243	SMC1A	HP:0000527	Long eyelashes	HP:0040281	ORPHA:199
8243	SMC1A	HP:0000520	Proptosis	2/4	OMIM:131300
8243	SMC1A	HP:0000520	Proptosis	7/7	OMIM:615777
8243	SMC1A	HP:0000508	Ptosis	-	OMIM:300590
8243	SMC1A	HP:0000508	Ptosis	HP:0040282	ORPHA:199
8243	SMC1A	HP:0000501	Glaucoma	HP:0040283	ORPHA:199
8243	SMC1A	HP:0000582	Upslanted palpebral fissure	2/11	OMIM:301044
8243	SMC1A	HP:0000592	Blue sclerae	2/7	OMIM:615777
8243	SMC1A	HP:0000574	Thick eyebrow	-	OMIM:300590
8243	SMC1A	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:199
8243	SMC1A	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8243	SMC1A	HP:0001883	Talipes	HP:0040283	ORPHA:199
8243	SMC1A	HP:0001883	Talipes	1/10	OMIM:301044
8243	SMC1A	HP:0012514	Lower limb pain	4/4	OMIM:131300
8243	SMC1A	HP:0000545	Myopia	HP:0040282	ORPHA:199
8260	NAA10	HP:0001159	Syndactyly	4/4	OMIM:309800
8260	NAA10	HP:0025104	Capillary malformation	1/8	OMIM:300855
8260	NAA10	HP:0025104	Capillary malformation	HP:0040283	ORPHA:276432
8260	NAA10	HP:0002457	Abnormal head movements	HP:0040283	ORPHA:276432
8260	NAA10	HP:0009943	Complete duplication of thumb phalanx	HP:0040282	ORPHA:568
8260	NAA10	HP:0009931	Enlarged naris	HP:0040283	ORPHA:276432
8260	NAA10	HP:0003717	Minimal subcutaneous fat	5/8	OMIM:300855
8260	NAA10	HP:0001290	Generalized hypotonia	4/4	OMIM:309800
8260	NAA10	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:276432
8260	NAA10	HP:0100807	Long fingers	1/8	OMIM:300855
8260	NAA10	HP:0100818	Long thorax	HP:0040283	ORPHA:568
8260	NAA10	HP:0001276	Hypertonia	HP:0040283	ORPHA:276432
8260	NAA10	HP:0001276	Hypertonia	2/8	OMIM:300855
8260	NAA10	HP:0001270	Motor delay	4/4	OMIM:309800
8260	NAA10	HP:0001254	Lethargy	HP:0040283	ORPHA:276432
8260	NAA10	HP:0001250	Seizure	HP:0040283	ORPHA:568
8260	NAA10	HP:0001250	Seizure	1/4	OMIM:309800
8260	NAA10	HP:0001252	Hypotonia	3/8	OMIM:300855
8260	NAA10	HP:0001252	Hypotonia	-	OMIM:309800
8260	NAA10	HP:0001249	Intellectual disability	HP:0040282	ORPHA:568
8260	NAA10	HP:0001249	Intellectual disability	4/4	OMIM:309800
8260	NAA10	HP:0001264	Spastic diplegia	-	OMIM:309800
8260	NAA10	HP:0001263	Global developmental delay	1/1	OMIM:300855
8260	NAA10	HP:0001263	Global developmental delay	HP:0040282	ORPHA:276432
8260	NAA10	HP:0001262	Excessive daytime somnolence	HP:0040282	ORPHA:276432
8260	NAA10	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:568
8260	NAA10	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:276432
8260	NAA10	HP:0008734	Decreased testicular size	1/8	OMIM:300855
8260	NAA10	HP:0100876	Infra-orbital crease	1/8	OMIM:300855
8260	NAA10	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:568
8260	NAA10	HP:0008678	Renal hypoplasia/aplasia	-	OMIM:309800
8260	NAA10	HP:0008678	Renal hypoplasia/aplasia	HP:0040282	ORPHA:568
8260	NAA10	HP:0001212	Prominent fingertip pads	4/4	OMIM:309800
8260	NAA10	HP:0003828	Variable expressivity	-	OMIM:300855
8260	NAA10	HP:0000089	Renal hypoplasia	-	OMIM:309800
8260	NAA10	HP:0000072	Hydroureter	-	OMIM:309800
8260	NAA10	HP:0000072	Hydroureter	HP:0040282	ORPHA:568
8260	NAA10	HP:0001374	Congenital hip dislocation	1/8	OMIM:300855
8260	NAA10	HP:0000047	Hypospadias	-	OMIM:309800
8260	NAA10	HP:0000047	Hypospadias	HP:0040282	ORPHA:568
8260	NAA10	HP:0000023	Inguinal hernia	3/8	OMIM:300855
8260	NAA10	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:276432
8260	NAA10	HP:0001347	Hyperreflexia	1/8	OMIM:300855
8260	NAA10	HP:0000034	Hydrocele testis	1/8	OMIM:300855
8260	NAA10	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:568
8260	NAA10	HP:0000028	Cryptorchidism	-	OMIM:309800
8260	NAA10	HP:0000028	Cryptorchidism	5/8	OMIM:300855
8260	NAA10	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:276432
8260	NAA10	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:276432
8260	NAA10	HP:0008897	Postnatal growth retardation	-	OMIM:300855
8260	NAA10	HP:0007495	Prematurely aged appearance	1/8	OMIM:300855
8260	NAA10	HP:0002650	Scoliosis	HP:0040283	ORPHA:568
8260	NAA10	HP:0002650	Scoliosis	4/4	OMIM:309800
8260	NAA10	HP:0002650	Scoliosis	1/8	OMIM:300855
8260	NAA10	HP:0002650	Scoliosis	HP:0040282	ORPHA:276432
8260	NAA10	HP:0000189	Narrow palate	4/8	OMIM:300855
8260	NAA10	HP:0000164	Abnormality of the dentition	-	OMIM:300855
8260	NAA10	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:568
8260	NAA10	HP:0001488	Bilateral ptosis	1/8	OMIM:300855
8260	NAA10	HP:0002705	High, narrow palate	-	OMIM:309800
8260	NAA10	HP:0002705	High, narrow palate	HP:0040283	ORPHA:276432
8260	NAA10	HP:0031295	Left atrial enlargement	1/8	OMIM:300855
8260	NAA10	HP:0000113	Polycystic kidney dysplasia	1/8	OMIM:300855
8260	NAA10	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:568
8260	NAA10	HP:0001423	X-linked dominant inheritance	-	OMIM:300855
8260	NAA10	HP:0000105	Enlarged kidney	1/8	OMIM:300855
8260	NAA10	HP:0001403	Macrovesicular hepatic steatosis	1/8	OMIM:300855
8260	NAA10	HP:0002751	Kyphoscoliosis	-	OMIM:309800
8260	NAA10	HP:0002750	Delayed skeletal maturation	1/8	OMIM:300855
8260	NAA10	HP:0001419	X-linked recessive inheritance	-	OMIM:300855
8260	NAA10	HP:0001417	X-linked inheritance	-	OMIM:309800
8260	NAA10	HP:0001414	Microvesicular hepatic steatosis	1/1	OMIM:300855
8260	NAA10	HP:0002719	Recurrent infections	-	OMIM:300855
8260	NAA10	HP:0002023	Anal atresia	-	OMIM:309800
8260	NAA10	HP:0002021	Pyloric stenosis	-	OMIM:309800
8260	NAA10	HP:0002035	Rectal prolapse	-	OMIM:309800
8260	NAA10	HP:0002002	Deep philtrum	-	OMIM:300855
8260	NAA10	HP:0002000	Short columella	1/8	OMIM:300855
8260	NAA10	HP:0002000	Short columella	HP:0040283	ORPHA:276432
8260	NAA10	HP:0005989	Redundant neck skin	1/8	OMIM:300855
8260	NAA10	HP:0002014	Diarrhea	1/8	OMIM:300855
8260	NAA10	HP:0002015	Dysphagia	1/8	OMIM:300855
8260	NAA10	HP:0002013	Vomiting	1/8	OMIM:300855
8260	NAA10	HP:0002007	Frontal bossing	HP:0040283	ORPHA:276432
8260	NAA10	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:568
8260	NAA10	HP:0002089	Pulmonary hypoplasia	1/8	OMIM:300855
8260	NAA10	HP:0002089	Pulmonary hypoplasia	HP:0040283	OMIM:309800
8260	NAA10	HP:0002092	Pulmonary arterial hypertension	1/8	OMIM:300855
8260	NAA10	HP:0002091	Restrictive ventilatory defect	1/8	OMIM:300855
8260	NAA10	HP:0002069	Bilateral tonic-clonic seizure	1/8	OMIM:300855
8260	NAA10	HP:0030939	Palpebral thickening	-	OMIM:300855
8260	NAA10	HP:0002059	Cerebral atrophy	2/2	OMIM:300855
8260	NAA10	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:276432
8260	NAA10	HP:0009466	Radial deviation of finger	-	OMIM:309800
8260	NAA10	HP:0100598	Pulmonary edema	1/8	OMIM:300855
8260	NAA10	HP:0009473	Joint contracture of the hand	-	OMIM:309800
8260	NAA10	HP:0002119	Ventriculomegaly	2/8	OMIM:300855
8260	NAA10	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:276432
8260	NAA10	HP:0004756	Ventricular tachycardia	1/8	OMIM:300855
8260	NAA10	HP:0004755	Supraventricular tachycardia	2/8	OMIM:300855
8260	NAA10	HP:0002104	Apnea	3/8	OMIM:300855
8260	NAA10	HP:0004737	Global glomerulosclerosis	1/8	OMIM:300855
8260	NAA10	HP:0002197	Generalized-onset seizure	1/8	OMIM:300855
8260	NAA10	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:276432
8260	NAA10	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:568
8260	NAA10	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:568
8260	NAA10	HP:0010538	Small sella turcica	1/8	OMIM:300855
8260	NAA10	HP:0010508	Metatarsus valgus	2/8	OMIM:300855
8260	NAA10	HP:0011823	Chin with horizontal crease	1/8	OMIM:300855
8260	NAA10	HP:0003577	Congenital onset	8/8	OMIM:300855
8260	NAA10	HP:0002251	Aganglionic megacolon	-	OMIM:309800
8260	NAA10	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:568
8260	NAA10	HP:0002213	Fine hair	HP:0040283	OMIM:300855
8260	NAA10	HP:0002213	Fine hair	HP:0040282	ORPHA:276432
8260	NAA10	HP:0020006	Ciliary body coloboma	-	OMIM:309800
8260	NAA10	HP:0011968	Feeding difficulties	5/8	OMIM:300855
8260	NAA10	HP:0002362	Shuffling gait	HP:0040283	ORPHA:276432
8260	NAA10	HP:0001004	Lymphedema	1/8	OMIM:300855
8260	NAA10	HP:0001018	Abnormal palmar dermatoglyphics	-	OMIM:309800
8260	NAA10	HP:0200021	Down-sloping shoulders	-	OMIM:309800
8260	NAA10	HP:0010803	Everted upper lip vermilion	-	OMIM:300855
8260	NAA10	HP:0010803	Everted upper lip vermilion	HP:0040283	ORPHA:276432
8260	NAA10	HP:0009800	Maternal diabetes	1/8	OMIM:300855
8260	NAA10	HP:0033454	Tube feeding	1/8	OMIM:300855
8260	NAA10	HP:0009762	Facial wrinkling	-	OMIM:300855
8260	NAA10	HP:0009755	Ankyloblepharon	HP:0040283	ORPHA:568
8260	NAA10	HP:0004969	Peripheral pulmonary artery stenosis	1/8	OMIM:300855
8260	NAA10	HP:0004209	Clinodactyly of the 5th finger	1/8	OMIM:300855
8260	NAA10	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:568
8260	NAA10	HP:0000639	Nystagmus	HP:0040283	ORPHA:568
8260	NAA10	HP:0000618	Blindness	-	OMIM:309800
8260	NAA10	HP:0000612	Iris coloboma	HP:0040282	ORPHA:568
8260	NAA10	HP:0000612	Iris coloboma	20/20	OMIM:309800
8260	NAA10	HP:0001901	Polycythemia	2/8	OMIM:300855
8260	NAA10	HP:0010055	Broad hallux	1/8	OMIM:300855
8260	NAA10	HP:0010055	Broad hallux	HP:0040282	ORPHA:276432
8260	NAA10	HP:0011344	Severe global developmental delay	1/8	OMIM:300855
8260	NAA10	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:568
8260	NAA10	HP:0000678	Dental crowding	-	OMIM:309800
8260	NAA10	HP:0000692	Tooth malposition	-	OMIM:309800
8260	NAA10	HP:0000690	Agenesis of maxillary lateral incisor	-	OMIM:309800
8260	NAA10	HP:0004322	Short stature	-	OMIM:300855
8260	NAA10	HP:0004322	Short stature	HP:0040282	ORPHA:568
8260	NAA10	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:568
8260	NAA10	HP:0003043	Abnormal shoulder morphology	HP:0040283	ORPHA:568
8260	NAA10	HP:0000767	Pectus excavatum	4/4	OMIM:309800
8260	NAA10	HP:0000767	Pectus excavatum	1/8	OMIM:300855
8260	NAA10	HP:0000737	Irritability	2/8	OMIM:300855
8260	NAA10	HP:0000733	Motor stereotypy	-	OMIM:300855
8260	NAA10	HP:0000742	Self-mutilation	-	OMIM:309800
8260	NAA10	HP:0000718	Aggressive behavior	-	OMIM:309800
8260	NAA10	HP:0000729	Autistic behavior	HP:0040283	OMIM:309800
8260	NAA10	HP:0000729	Autistic behavior	HP:0040283	ORPHA:276432
8260	NAA10	HP:0000708	Atypical behavior	HP:0040283	ORPHA:276432
8260	NAA10	HP:0000774	Narrow chest	-	OMIM:309800
8260	NAA10	HP:0004415	Pulmonary artery stenosis	1/1	OMIM:300855
8260	NAA10	HP:0004415	Pulmonary artery stenosis	HP:0040283	ORPHA:276432
8260	NAA10	HP:0003196	Short nose	2/8	OMIM:300855
8260	NAA10	HP:0004491	Large posterior fontanelle	2/8	OMIM:300855
8260	NAA10	HP:0000889	Abnormal clavicle morphology	HP:0040283	ORPHA:568
8260	NAA10	HP:0000894	Short clavicles	-	OMIM:309800
8260	NAA10	HP:0045075	Sparse eyebrow	-	OMIM:300855
8260	NAA10	HP:0000973	Cutis laxa	3/8	OMIM:300855
8260	NAA10	HP:0000973	Cutis laxa	HP:0040283	ORPHA:276432
8260	NAA10	HP:0000952	Jaundice	2/8	OMIM:300855
8260	NAA10	HP:0000964	Eczematoid dermatitis	4/8	OMIM:300855
8260	NAA10	HP:0011675	Arrhythmia	HP:0040283	ORPHA:276432
8260	NAA10	HP:0011675	Arrhythmia	-	OMIM:300855
8260	NAA10	HP:0011682	Perimembranous ventricular septal defect	1/8	OMIM:300855
8260	NAA10	HP:0000286	Epicanthus	-	OMIM:300855
8260	NAA10	HP:0000280	Coarse facial features	HP:0040283	ORPHA:276432
8260	NAA10	HP:0000280	Coarse facial features	1/8	OMIM:300855
8260	NAA10	HP:0000290	Abnormal forehead morphology	HP:0040283	ORPHA:276432
8260	NAA10	HP:0000260	Wide anterior fontanel	5/8	OMIM:300855
8260	NAA10	HP:0000270	Delayed cranial suture closure	-	OMIM:300855
8260	NAA10	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:276432
8260	NAA10	HP:0030084	Clinodactyly	4/4	OMIM:309800
8260	NAA10	HP:0002808	Kyphosis	HP:0040283	ORPHA:568
8260	NAA10	HP:0000252	Microcephaly	-	OMIM:300855
8260	NAA10	HP:0000252	Microcephaly	HP:0040282	ORPHA:568
8260	NAA10	HP:0000252	Microcephaly	-	OMIM:309800
8260	NAA10	HP:0001582	Redundant skin	-	OMIM:300855
8260	NAA10	HP:0000219	Thin upper lip vermilion	-	OMIM:300855
8260	NAA10	HP:0000218	High palate	4/4	OMIM:309800
8260	NAA10	HP:0000218	High palate	-	OMIM:300855
8260	NAA10	HP:0000215	Thick upper lip vermilion	-	OMIM:300855
8260	NAA10	HP:0001562	Oligohydramnios	1/8	OMIM:300855
8260	NAA10	HP:0000233	Thin vermilion border	1/8	OMIM:300855
8260	NAA10	HP:0001558	Decreased fetal movement	1/8	OMIM:300855
8260	NAA10	HP:0001537	Umbilical hernia	1/8	OMIM:300855
8260	NAA10	HP:0000202	Orofacial cleft	-	OMIM:309800
8260	NAA10	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:568
8260	NAA10	HP:0000204	Cleft upper lip	-	OMIM:309800
8260	NAA10	HP:0002835	Aspiration	1/8	OMIM:300855
8260	NAA10	HP:0001511	Intrauterine growth retardation	1/8	OMIM:300855
8260	NAA10	HP:0001510	Growth delay	-	OMIM:309800
8260	NAA10	HP:0001510	Growth delay	2/8	OMIM:300855
8260	NAA10	HP:0012385	Camptodactyly	-	OMIM:309800
8260	NAA10	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:568
8260	NAA10	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:568
8260	NAA10	HP:0000377	Abnormal pinna morphology	-	OMIM:309800
8260	NAA10	HP:0000396	Overfolded helix	-	OMIM:309800
8260	NAA10	HP:0002938	Lumbar hyperlordosis	-	OMIM:309800
8260	NAA10	HP:0002904	Hyperbilirubinemia	1/8	OMIM:300855
8260	NAA10	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:568
8260	NAA10	HP:0000365	Hearing impairment	HP:0040283	ORPHA:568
8260	NAA10	HP:0000365	Hearing impairment	-	OMIM:309800
8260	NAA10	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:568
8260	NAA10	HP:0000369	Low-set ears	-	OMIM:309800
8260	NAA10	HP:0000369	Low-set ears	-	OMIM:300855
8260	NAA10	HP:0000369	Low-set ears	HP:0040283	ORPHA:276432
8260	NAA10	HP:0000341	Narrow forehead	HP:0040283	ORPHA:276432
8260	NAA10	HP:0000343	Long philtrum	2/8	OMIM:300855
8260	NAA10	HP:0000337	Broad forehead	1/8	OMIM:300855
8260	NAA10	HP:0001664	Torsade de pointes	-	OMIM:300855
8260	NAA10	HP:0001684	Secundum atrial septal defect	1/8	OMIM:300855
8260	NAA10	HP:0000348	High forehead	1/8	OMIM:300855
8260	NAA10	HP:0000347	Micrognathia	1/8	OMIM:300855
8260	NAA10	HP:0001647	Bicuspid aortic valve	1/8	OMIM:300855
8260	NAA10	HP:0001647	Bicuspid aortic valve	-	OMIM:309800
8260	NAA10	HP:0000316	Hypertelorism	3/8	OMIM:300855
8260	NAA10	HP:0001643	Patent ductus arteriosus	2/8	OMIM:300855
8260	NAA10	HP:0030149	Cardiogenic shock	HP:0040283	ORPHA:276432
8260	NAA10	HP:0000322	Short philtrum	1/8	OMIM:300855
8260	NAA10	HP:0001655	Patent foramen ovale	2/8	OMIM:300855
8260	NAA10	HP:0001629	Ventricular septal defect	-	OMIM:300855
8260	NAA10	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:276432
8260	NAA10	HP:0001640	Cardiomegaly	3/8	OMIM:300855
8260	NAA10	HP:0000308	Microretrognathia	3/8	OMIM:300855
8260	NAA10	HP:0000308	Microretrognathia	HP:0040283	ORPHA:276432
8260	NAA10	HP:0001631	Atrial septal defect	-	OMIM:300855
8260	NAA10	HP:0006699	Premature atrial contractions	1/8	OMIM:300855
8260	NAA10	HP:0006682	Premature ventricular contraction	-	OMIM:300855
8260	NAA10	HP:0000403	Recurrent otitis media	-	OMIM:309800
8260	NAA10	HP:0000403	Recurrent otitis media	1/8	OMIM:300855
8260	NAA10	HP:0000400	Macrotia	HP:0040283	ORPHA:276432
8260	NAA10	HP:0000400	Macrotia	5/8	OMIM:300855
8260	NAA10	HP:0005272	Prominent nasolabial fold	1/8	OMIM:300855
8260	NAA10	HP:0005280	Depressed nasal bridge	-	OMIM:300855
8260	NAA10	HP:0000482	Microcornea	HP:0040282	ORPHA:568
8260	NAA10	HP:0000482	Microcornea	-	OMIM:309800
8260	NAA10	HP:0000494	Downslanted palpebral fissures	3/8	OMIM:300855
8260	NAA10	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:276432
8260	NAA10	HP:0000490	Deeply set eye	1/8	OMIM:300855
8260	NAA10	HP:0000492	Abnormal eyelid morphology	-	OMIM:300855
8260	NAA10	HP:0000454	Flared nostrils	3/8	OMIM:300855
8260	NAA10	HP:0000456	Bifid nasal tip	1/8	OMIM:300855
8260	NAA10	HP:0000473	Torticollis	1/8	OMIM:300855
8260	NAA10	HP:0000473	Torticollis	HP:0040282	ORPHA:276432
8260	NAA10	HP:0000470	Short neck	3/8	OMIM:300855
8260	NAA10	HP:0000465	Webbed neck	HP:0040283	ORPHA:568
8260	NAA10	HP:0000465	Webbed neck	-	OMIM:309800
8260	NAA10	HP:0000437	Depressed nasal tip	1/8	OMIM:300855
8260	NAA10	HP:0000411	Protruding ear	1/8	OMIM:300855
8260	NAA10	HP:0000431	Wide nasal bridge	-	OMIM:300855
8260	NAA10	HP:0000430	Underdeveloped nasal alae	-	OMIM:300855
8260	NAA10	HP:0000430	Underdeveloped nasal alae	HP:0040283	ORPHA:276432
8260	NAA10	HP:0005487	Prominent metopic ridge	1/8	OMIM:300855
8260	NAA10	HP:0000518	Cataract	HP:0040283	ORPHA:568
8260	NAA10	HP:0000528	Anophthalmia	4/4	OMIM:309800
8260	NAA10	HP:0000527	Long eyelashes	2/8	OMIM:300855
8260	NAA10	HP:0001852	Sandal gap	1/8	OMIM:300855
8260	NAA10	HP:0000520	Proptosis	HP:0040283	ORPHA:276432
8260	NAA10	HP:0000520	Proptosis	4/8	OMIM:300855
8260	NAA10	HP:0000508	Ptosis	-	OMIM:309800
8260	NAA10	HP:0000505	Visual impairment	HP:0040283	ORPHA:568
8260	NAA10	HP:0000501	Glaucoma	HP:0040282	ORPHA:568
8260	NAA10	HP:0000588	Optic disc coloboma	-	OMIM:309800
8260	NAA10	HP:0000588	Optic disc coloboma	HP:0040282	ORPHA:568
8260	NAA10	HP:0001891	Iron deficiency anemia	1/8	OMIM:300855
8260	NAA10	HP:0011220	Prominent forehead	-	OMIM:300855
8260	NAA10	HP:0000568	Microphthalmia	-	OMIM:309800
8260	NAA10	HP:0000568	Microphthalmia	HP:0040281	ORPHA:568
8260	NAA10	HP:0000567	Chorioretinal coloboma	-	OMIM:309800
8260	NAA10	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:568
8260	NAA10	HP:0001873	Thrombocytopenia	1/8	OMIM:300855
8270	LAGE3	HP:0001181	Adducted thumb	HP:0040283	ORPHA:2065
8270	LAGE3	HP:0001166	Arachnodactyly	1/3	OMIM:301006
8270	LAGE3	HP:0003774	Stage 5 chronic kidney disease	3/3	OMIM:301006
8270	LAGE3	HP:0002410	Aqueductal stenosis	HP:0040283	ORPHA:2065
8270	LAGE3	HP:0001276	Hypertonia	HP:0040283	ORPHA:2065
8270	LAGE3	HP:0001272	Cerebellar atrophy	2/3	OMIM:301006
8270	LAGE3	HP:0001250	Seizure	HP:0040282	ORPHA:2065
8270	LAGE3	HP:0001250	Seizure	2/3	OMIM:301006
8270	LAGE3	HP:0001252	Hypotonia	HP:0040283	ORPHA:2065
8270	LAGE3	HP:0001252	Hypotonia	2/3	OMIM:301006
8270	LAGE3	HP:0001249	Intellectual disability	3/3	OMIM:301006
8270	LAGE3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2065
8270	LAGE3	HP:0001263	Global developmental delay	3/3	OMIM:301006
8270	LAGE3	HP:0001257	Spasticity	2/3	OMIM:301006
8270	LAGE3	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:2065
8270	LAGE3	HP:0000097	Focal segmental glomerulosclerosis	2/3	OMIM:301006
8270	LAGE3	HP:0000093	Proteinuria	3/3	OMIM:301006
8270	LAGE3	HP:0000093	Proteinuria	HP:0040281	ORPHA:2065
8270	LAGE3	HP:0001310	Dysmetria	1/3	OMIM:301006
8270	LAGE3	HP:0001302	Pachygyria	HP:0040282	ORPHA:2065
8270	LAGE3	HP:0002650	Scoliosis	1/3	OMIM:301006
8270	LAGE3	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:2065
8270	LAGE3	HP:0000100	Nephrotic syndrome	3/3	OMIM:301006
8270	LAGE3	HP:0000100	Nephrotic syndrome	HP:0040281	ORPHA:2065
8270	LAGE3	HP:0000112	Nephropathy	HP:0040281	ORPHA:2065
8270	LAGE3	HP:0001419	X-linked recessive inheritance	-	OMIM:301006
8270	LAGE3	HP:0002036	Hiatus hernia	HP:0040282	ORPHA:2065
8270	LAGE3	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:2065
8270	LAGE3	HP:0002059	Cerebral atrophy	1/3	OMIM:301006
8270	LAGE3	HP:0002126	Polymicrogyria	1/3	OMIM:301006
8270	LAGE3	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2065
8270	LAGE3	HP:0003593	Infantile onset	2/3	OMIM:301006
8270	LAGE3	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:2065
8270	LAGE3	HP:0100720	Hypoplasia of the ear cartilage	HP:0040281	ORPHA:2065
8270	LAGE3	HP:0011968	Feeding difficulties	1/3	OMIM:301006
8270	LAGE3	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2065
8270	LAGE3	HP:0000639	Nystagmus	1/3	OMIM:301006
8270	LAGE3	HP:0000601	Hypotelorism	HP:0040283	ORPHA:2065
8270	LAGE3	HP:0004322	Short stature	HP:0040282	ORPHA:2065
8270	LAGE3	HP:0004322	Short stature	2/3	OMIM:301006
8270	LAGE3	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:2065
8270	LAGE3	HP:0000750	Delayed speech and language development	-	OMIM:301006
8270	LAGE3	HP:0011463	Childhood onset	1/3	OMIM:301006
8270	LAGE3	HP:0011451	Primary microcephaly	3/3	OMIM:301006
8270	LAGE3	HP:0005108	Abnormal intervertebral disk morphology	HP:0040283	ORPHA:2065
8270	LAGE3	HP:0000252	Microcephaly	HP:0040281	ORPHA:2065
8270	LAGE3	HP:0000218	High palate	1/3	OMIM:301006
8270	LAGE3	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2065
8270	LAGE3	HP:0001511	Intrauterine growth retardation	1/3	OMIM:301006
8270	LAGE3	HP:0000341	Narrow forehead	2/3	OMIM:301006
8270	LAGE3	HP:0000347	Micrognathia	HP:0040283	ORPHA:2065
8270	LAGE3	HP:0000347	Micrognathia	1/3	OMIM:301006
8270	LAGE3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2065
8270	LAGE3	HP:0001622	Premature birth	HP:0040282	ORPHA:2065
8270	LAGE3	HP:0000400	Macrotia	HP:0040282	ORPHA:2065
8270	LAGE3	HP:0012579	Minimal change glomerulonephritis	1/3	OMIM:301006
8270	LAGE3	HP:0000565	Esotropia	-	OMIM:301006
8284	KDM5D	HP:0000027	Azoospermia	-	OMIM:415000
8284	KDM5D	HP:0001450	Y-linked inheritance	-	OMIM:415000
8284	KDM5D	HP:0011462	Young adult onset	-	OMIM:415000
8284	KDM5D	HP:0003251	Male infertility	-	OMIM:415000
8287	USP9Y	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:1646
8287	USP9Y	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:1646
8287	USP9Y	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1646
8287	USP9Y	HP:0000027	Azoospermia	-	OMIM:415000
8287	USP9Y	HP:0001450	Y-linked inheritance	-	OMIM:415000
8287	USP9Y	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:1646
8287	USP9Y	HP:0011462	Young adult onset	-	OMIM:415000
8287	USP9Y	HP:0000798	Oligozoospermia	HP:0040282	ORPHA:1646
8287	USP9Y	HP:0003251	Male infertility	HP:0040281	ORPHA:1646
8287	USP9Y	HP:0003251	Male infertility	-	OMIM:415000
8288	EPX	HP:0000007	Autosomal recessive inheritance	-	OMIM:261500
8288	EPX	HP:0034253	Eosinophil nuclear hypersegmentation	1/1	OMIM:261500
8289	ARID1A	HP:0001156	Brachydactyly	-	OMIM:614607
8289	ARID1A	HP:0009928	Thick nasal alae	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0009882	Short distal phalanx of finger	1/1	OMIM:614607
8289	ARID1A	HP:0009879	Simplified gyral pattern	HP:0040283	ORPHA:1465
8289	ARID1A	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:1465
8289	ARID1A	HP:0001273	Abnormal corpus callosum morphology	3/3	OMIM:614607
8289	ARID1A	HP:0001250	Seizure	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0001250	Seizure	1/3	OMIM:614607
8289	ARID1A	HP:0001252	Hypotonia	3/4	OMIM:614607
8289	ARID1A	HP:0001249	Intellectual disability	1/1	OMIM:614607
8289	ARID1A	HP:0001263	Global developmental delay	3/3	OMIM:614607
8289	ARID1A	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:1465
8289	ARID1A	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0000047	Hypospadias	HP:0040283	ORPHA:1465
8289	ARID1A	HP:0000023	Inguinal hernia	1/3	OMIM:614607
8289	ARID1A	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0000028	Cryptorchidism	1/1	OMIM:614607
8289	ARID1A	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0001344	Absent speech	HP:0040283	ORPHA:1465
8289	ARID1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:614607
8289	ARID1A	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:1465
8289	ARID1A	HP:0001305	Dandy-Walker malformation	1/3	OMIM:614607
8289	ARID1A	HP:0002650	Scoliosis	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0001321	Cerebellar hypoplasia	1/2	OMIM:614607
8289	ARID1A	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:1465
8289	ARID1A	HP:0000179	Thick lower lip vermilion	1/1	OMIM:614607
8289	ARID1A	HP:0000158	Macroglossia	1/4	OMIM:614607
8289	ARID1A	HP:0000175	Cleft palate	0/1	OMIM:614607
8289	ARID1A	HP:0000154	Wide mouth	4/4	OMIM:614607
8289	ARID1A	HP:0000154	Wide mouth	HP:0040281	ORPHA:1465
8289	ARID1A	HP:0008947	Floppy infant	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0002750	Delayed skeletal maturation	2/3	OMIM:614607
8289	ARID1A	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0002719	Recurrent infections	3/4	OMIM:614607
8289	ARID1A	HP:0002719	Recurrent infections	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0002033	Poor suck	3/3	OMIM:614607
8289	ARID1A	HP:0011937	Hypoplastic fifth toenail	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0200105	Absent fifth toenail	3/3	OMIM:614607
8289	ARID1A	HP:0200104	Absent fifth fingernail	3/3	OMIM:614607
8289	ARID1A	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0002209	Sparse scalp hair	3/3	OMIM:614607
8289	ARID1A	HP:0100790	Hernia	HP:0040283	ORPHA:1465
8289	ARID1A	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:1465
8289	ARID1A	HP:0011968	Feeding difficulties	3/3	OMIM:614607
8289	ARID1A	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0008398	Hypoplastic fifth fingernail	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0001007	Hirsutism	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0001007	Hirsutism	3/3	OMIM:614607
8289	ARID1A	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0000684	Delayed eruption of teeth	2/2	OMIM:614607
8289	ARID1A	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0004322	Short stature	2/3	OMIM:614607
8289	ARID1A	HP:0000752	Hyperactivity	1/1	OMIM:614607
8289	ARID1A	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1465
8289	ARID1A	HP:0000750	Delayed speech and language development	1/1	OMIM:614607
8289	ARID1A	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:1465
8289	ARID1A	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1465
8289	ARID1A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0003196	Short nose	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0012810	Wide nasal base	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0009237	Short 5th finger	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0000998	Hypertrichosis	HP:0040281	ORPHA:1465
8289	ARID1A	HP:0000280	Coarse facial features	4/4	OMIM:614607
8289	ARID1A	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1465
8289	ARID1A	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0000294	Low anterior hairline	1/1	OMIM:614607
8289	ARID1A	HP:0000289	Broad philtrum	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0030084	Clinodactyly	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0000252	Microcephaly	HP:0040284	ORPHA:1465
8289	ARID1A	HP:0000252	Microcephaly	1/3	OMIM:614607
8289	ARID1A	HP:0002884	Hepatoblastoma	HP:0040284	ORPHA:1465
8289	ARID1A	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0000218	High palate	2/3	OMIM:614607
8289	ARID1A	HP:0002895	Papillary thyroid carcinoma	HP:0040284	ORPHA:1465
8289	ARID1A	HP:0001511	Intrauterine growth retardation	1/3	OMIM:614607
8289	ARID1A	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:1465
8289	ARID1A	HP:0001510	Growth delay	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0000377	Abnormal pinna morphology	1/1	OMIM:614607
8289	ARID1A	HP:0000365	Hearing impairment	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0000365	Hearing impairment	1/3	OMIM:614607
8289	ARID1A	HP:0000343	Long philtrum	1/4	OMIM:614607
8289	ARID1A	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1465
8289	ARID1A	HP:0000322	Short philtrum	2/4	OMIM:614607
8289	ARID1A	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:1465
8289	ARID1A	HP:0001627	Abnormal heart morphology	0/1	OMIM:614607
8289	ARID1A	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1465
8289	ARID1A	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1465
8289	ARID1A	HP:0005280	Depressed nasal bridge	3/4	OMIM:614607
8289	ARID1A	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0000486	Strabismus	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0000486	Strabismus	1/1	OMIM:614607
8289	ARID1A	HP:0012471	Thick vermilion border	3/3	OMIM:614607
8289	ARID1A	HP:0001792	Small nail	HP:0040281	ORPHA:1465
8289	ARID1A	HP:0001792	Small nail	4/4	OMIM:614607
8289	ARID1A	HP:0000463	Anteverted nares	1/1	OMIM:614607
8289	ARID1A	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0000445	Wide nose	3/4	OMIM:614607
8289	ARID1A	HP:0000527	Long eyelashes	4/4	OMIM:614607
8289	ARID1A	HP:0001852	Sandal gap	1/1	OMIM:614607
8289	ARID1A	HP:0000508	Ptosis	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0000508	Ptosis	1/1	OMIM:614607
8289	ARID1A	HP:0000505	Visual impairment	1/2	OMIM:614607
8289	ARID1A	HP:0000505	Visual impairment	HP:0040282	ORPHA:1465
8289	ARID1A	HP:0011231	Prominent eyelashes	HP:0040281	ORPHA:1465
8289	ARID1A	HP:0000574	Thick eyebrow	3/4	OMIM:614607
8289	ARID1A	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:1465
8289	ARID1A	HP:0012523	Oral aversion	HP:0040283	ORPHA:1465
8289	ARID1A	HP:0000545	Myopia	HP:0040283	ORPHA:1465
8291	DYSF	HP:0003791	Deposits immunoreactive to beta-amyloid protein	HP:0040283	OMIM:254130
8291	DYSF	HP:0002460	Distal muscle weakness	-	OMIM:254130
8291	DYSF	HP:0003749	Pelvic girdle muscle weakness	HP:0040282	ORPHA:45448
8291	DYSF	HP:0003731	Quadriceps muscle weakness	HP:0040282	ORPHA:45448
8291	DYSF	HP:0003722	Neck flexor weakness	HP:0040283	ORPHA:268
8291	DYSF	HP:0003738	Exercise-induced myalgia	HP:0040282	ORPHA:178400
8291	DYSF	HP:0003738	Exercise-induced myalgia	HP:0040282	ORPHA:45448
8291	DYSF	HP:0003701	Proximal muscle weakness	32/32	OMIM:253601
8291	DYSF	HP:0003701	Proximal muscle weakness	-	OMIM:606768
8291	DYSF	HP:0001288	Gait disturbance	HP:0040282	ORPHA:45448
8291	DYSF	HP:0007340	Lower limb muscle weakness	-	OMIM:254130
8291	DYSF	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:268
8291	DYSF	HP:0002540	Inability to walk	HP:0040284	ORPHA:268
8291	DYSF	HP:0002505	Loss of ambulation	6/7	OMIM:253601
8291	DYSF	HP:0002505	Loss of ambulation	-	OMIM:606768
8291	DYSF	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:45448
8291	DYSF	HP:0003805	Rimmed vacuoles	-	ORPHA:178400
8291	DYSF	HP:0008800	Limited hip movement	HP:0040284	ORPHA:268
8291	DYSF	HP:0031177	Finger flexor weakness	HP:0040284	ORPHA:178400
8291	DYSF	HP:0000007	Autosomal recessive inheritance	-	OMIM:253601
8291	DYSF	HP:0000007	Autosomal recessive inheritance	-	OMIM:606768
8291	DYSF	HP:0000007	Autosomal recessive inheritance	-	OMIM:254130
8291	DYSF	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:268
8291	DYSF	HP:0031108	Triceps weakness	HP:0040283	ORPHA:45448
8291	DYSF	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:268
8291	DYSF	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:45448
8291	DYSF	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040283	ORPHA:268
8291	DYSF	HP:0008981	Calf muscle hypertrophy	HP:0040283	ORPHA:268
8291	DYSF	HP:0008981	Calf muscle hypertrophy	HP:0040283	ORPHA:45448
8291	DYSF	HP:0008959	Distal upper limb muscle weakness	HP:0040284	ORPHA:268
8291	DYSF	HP:0008963	Tibialis muscle weakness	HP:0040282	ORPHA:45448
8291	DYSF	HP:0008963	Tibialis muscle weakness	HP:0040282	ORPHA:178400
8291	DYSF	HP:0008954	Intrinsic hand muscle atrophy	HP:0040283	ORPHA:178400
8291	DYSF	HP:0008954	Intrinsic hand muscle atrophy	-	ORPHA:45448
8291	DYSF	HP:0008944	Distal lower limb amyotrophy	HP:0040282	ORPHA:45448
8291	DYSF	HP:0002747	Respiratory insufficiency due to muscle weakness	-	ORPHA:45448
8291	DYSF	HP:0003325	Limb-girdle muscle weakness	HP:0040283	ORPHA:178400
8291	DYSF	HP:0003326	Myalgia	HP:0040283	ORPHA:45448
8291	DYSF	HP:0002015	Dysphagia	HP:0040284	ORPHA:268
8291	DYSF	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:268
8291	DYSF	HP:0003306	Spinal rigidity	HP:0040284	ORPHA:268
8291	DYSF	HP:0002072	Chorea	HP:0040284	ORPHA:268
8291	DYSF	HP:0100515	Pollakisuria	HP:0040284	ORPHA:268
8291	DYSF	HP:0011712	Complete right bundle branch block	HP:0040283	ORPHA:268
8291	DYSF	HP:0003474	Somatic sensory dysfunction	-	ORPHA:178400
8291	DYSF	HP:0003458	EMG: myopathic abnormalities	-	OMIM:253601
8291	DYSF	HP:0003438	Absent Achilles reflex	HP:0040283	ORPHA:178400
8291	DYSF	HP:0010546	Muscle fibrillation	-	OMIM:254130
8291	DYSF	HP:0003581	Adult onset	HP:0040282	OMIM:254130
8291	DYSF	HP:0003555	Muscle fiber splitting	-	OMIM:253601
8291	DYSF	HP:0003552	Muscle stiffness	-	ORPHA:45448
8291	DYSF	HP:0003551	Difficulty climbing stairs	-	OMIM:254130
8291	DYSF	HP:0003551	Difficulty climbing stairs	-	OMIM:253601
8291	DYSF	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:268
8291	DYSF	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:45448
8291	DYSF	HP:0200101	Decreased/absent ankle reflexes	-	OMIM:254130
8291	DYSF	HP:0200101	Decreased/absent ankle reflexes	HP:0040283	ORPHA:45448
8291	DYSF	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:45448
8291	DYSF	HP:0003560	Muscular dystrophy	-	OMIM:254130
8291	DYSF	HP:0003560	Muscular dystrophy	-	OMIM:253601
8291	DYSF	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:253601
8291	DYSF	HP:0100748	Muscular edema	HP:0040283	ORPHA:268
8291	DYSF	HP:0003698	Difficulty standing	HP:0040282	ORPHA:45448
8291	DYSF	HP:0003693	Distal amyotrophy	-	OMIM:254130
8291	DYSF	HP:0003691	Scapular winging	HP:0040283	ORPHA:268
8291	DYSF	HP:0003677	Slowly progressive	-	OMIM:253601
8291	DYSF	HP:0003678	Rapidly progressive	-	OMIM:606768
8291	DYSF	HP:0007149	Distal upper limb amyotrophy	HP:0040282	ORPHA:45448
8291	DYSF	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:45448
8291	DYSF	HP:0003621	Juvenile onset	11/17	OMIM:253601
8291	DYSF	HP:0003621	Juvenile onset	-	OMIM:606768
8291	DYSF	HP:0011399	Tibialis anterior muscle atrophy	HP:0040282	ORPHA:45448
8291	DYSF	HP:0009072	Decreased Achilles reflex	-	OMIM:254130
8291	DYSF	HP:0009073	Progressive proximal muscle weakness	HP:0040282	ORPHA:178400
8291	DYSF	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:45448
8291	DYSF	HP:0009046	Difficulty running	-	OMIM:253601
8291	DYSF	HP:0009046	Difficulty running	HP:0040283	ORPHA:268
8291	DYSF	HP:0012664	Reduced left ventricular ejection fraction	HP:0040283	ORPHA:268
8291	DYSF	HP:0009025	Increased connective tissue	-	OMIM:253601
8291	DYSF	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:45448
8291	DYSF	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040283	ORPHA:178400
8291	DYSF	HP:0011462	Young adult onset	16/17	OMIM:253601
8291	DYSF	HP:0011462	Young adult onset	-	OMIM:606768
8291	DYSF	HP:0003115	Abnormal EKG	HP:0040283	ORPHA:268
8291	DYSF	HP:0003198	Myopathy	-	OMIM:606768
8291	DYSF	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040281	ORPHA:178400
8291	DYSF	HP:0003236	Elevated circulating creatine kinase concentration	25/25	OMIM:253601
8291	DYSF	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:268
8291	DYSF	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:254130
8291	DYSF	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:606768
8291	DYSF	HP:0003202	Skeletal muscle atrophy	7/7	OMIM:253601
8291	DYSF	HP:0045054	Brachial plexus neuropathy	HP:0040284	ORPHA:268
8291	DYSF	HP:0005085	Limited knee flexion/extension	HP:0040284	ORPHA:268
8291	DYSF	HP:0030051	Tip-toe gait	-	OMIM:254130
8291	DYSF	HP:0030051	Tip-toe gait	HP:0040284	ORPHA:268
8291	DYSF	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:45448
8291	DYSF	HP:0012378	Fatigue	-	OMIM:253601
8291	DYSF	HP:0030114	Absent muscle fiber dysferlin	HP:0040281	ORPHA:178400
8291	DYSF	HP:0001667	Right ventricular hypertrophy	HP:0040283	ORPHA:268
8291	DYSF	HP:0002996	Limited elbow movement	HP:0040284	ORPHA:268
8291	DYSF	HP:0001626	Abnormality of the cardiovascular system	-	ORPHA:45448
8291	DYSF	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:268
8291	DYSF	HP:0000467	Neck muscle weakness	-	ORPHA:178400
8291	DYSF	HP:0001761	Pes cavus	HP:0040283	ORPHA:268
8292	COLQ	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:98915
8292	COLQ	HP:0002421	Poor head control	HP:0040282	ORPHA:98915
8292	COLQ	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:98915
8292	COLQ	HP:0001290	Generalized hypotonia	-	OMIM:603034
8292	COLQ	HP:0001284	Areflexia	HP:0040283	ORPHA:98915
8292	COLQ	HP:0001252	Hypotonia	HP:0040282	ORPHA:98915
8292	COLQ	HP:0001252	Hypotonia	-	OMIM:603034
8292	COLQ	HP:0001249	Intellectual disability	HP:0040283	ORPHA:98915
8292	COLQ	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:98915
8292	COLQ	HP:0001260	Dysarthria	-	OMIM:603034
8292	COLQ	HP:0001263	Global developmental delay	HP:0040282	ORPHA:98915
8292	COLQ	HP:0002515	Waddling gait	HP:0040282	ORPHA:98915
8292	COLQ	HP:0003803	Type 1 muscle fiber predominance	HP:0040283	ORPHA:98915
8292	COLQ	HP:0003803	Type 1 muscle fiber predominance	2/2	OMIM:603034
8292	COLQ	HP:0008872	Feeding difficulties in infancy	20/20	OMIM:603034
8292	COLQ	HP:0001324	Muscle weakness	HP:0040283	ORPHA:98915
8292	COLQ	HP:0000007	Autosomal recessive inheritance	-	OMIM:603034
8292	COLQ	HP:0002650	Scoliosis	HP:0040283	ORPHA:98915
8292	COLQ	HP:0002650	Scoliosis	-	OMIM:603034
8292	COLQ	HP:0002643	Neonatal respiratory distress	HP:0040283	ORPHA:98915
8292	COLQ	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:98915
8292	COLQ	HP:0006251	Limited wrist extension	HP:0040284	ORPHA:98915
8292	COLQ	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:98915
8292	COLQ	HP:0002791	Hypoventilation	HP:0040283	ORPHA:98915
8292	COLQ	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:603034
8292	COLQ	HP:0002033	Poor suck	HP:0040282	ORPHA:98915
8292	COLQ	HP:0003327	Axial muscle weakness	HP:0040283	ORPHA:98915
8292	COLQ	HP:0002015	Dysphagia	HP:0040282	ORPHA:98915
8292	COLQ	HP:0002015	Dysphagia	-	OMIM:603034
8292	COLQ	HP:0003307	Hyperlordosis	-	OMIM:603034
8292	COLQ	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:98915
8292	COLQ	HP:0003324	Generalized muscle weakness	1/6	OMIM:603034
8292	COLQ	HP:0002098	Respiratory distress	HP:0040282	ORPHA:98915
8292	COLQ	HP:0002092	Pulmonary arterial hypertension	HP:0040284	ORPHA:98915
8292	COLQ	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:98915
8292	COLQ	HP:0002093	Respiratory insufficiency	-	OMIM:603034
8292	COLQ	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	HP:0040282	ORPHA:98915
8292	COLQ	HP:0003388	Easy fatigability	HP:0040283	ORPHA:98915
8292	COLQ	HP:0003388	Easy fatigability	-	OMIM:603034
8292	COLQ	HP:0003473	Fatigable weakness	12/12	OMIM:603034
8292	COLQ	HP:0003443	Decreased size of nerve terminals	HP:0040282	ORPHA:98915
8292	COLQ	HP:0003443	Decreased size of nerve terminals	-	OMIM:603034
8292	COLQ	HP:0003436	Prolonged miniature endplate currents	HP:0040282	ORPHA:98915
8292	COLQ	HP:0003436	Prolonged miniature endplate currents	-	OMIM:603034
8292	COLQ	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040281	ORPHA:98915
8292	COLQ	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	6/6	OMIM:603034
8292	COLQ	HP:0010535	Sleep apnea	HP:0040283	ORPHA:98915
8292	COLQ	HP:0003593	Infantile onset	-	OMIM:603034
8292	COLQ	HP:0003577	Congenital onset	6/6	OMIM:603034
8292	COLQ	HP:0003554	Type 2 muscle fiber atrophy	HP:0040284	ORPHA:98915
8292	COLQ	HP:0003554	Type 2 muscle fiber atrophy	2/2	OMIM:603034
8292	COLQ	HP:0010628	Facial palsy	HP:0040282	ORPHA:98915
8292	COLQ	HP:0003691	Scapular winging	HP:0040282	ORPHA:98915
8292	COLQ	HP:0003690	Limb muscle weakness	1/6	OMIM:603034
8292	COLQ	HP:0002359	Frequent falls	HP:0040284	ORPHA:98915
8292	COLQ	HP:0003621	Juvenile onset	6/6	OMIM:603034
8292	COLQ	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:98915
8292	COLQ	HP:0003198	Myopathy	HP:0040282	ORPHA:98915
8292	COLQ	HP:0003198	Myopathy	-	OMIM:603034
8292	COLQ	HP:0003199	Decreased muscle mass	-	OMIM:603034
8292	COLQ	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:98915
8292	COLQ	HP:0002815	Abnormality of the knee	HP:0040283	ORPHA:98915
8292	COLQ	HP:0000218	High palate	HP:0040283	ORPHA:98915
8292	COLQ	HP:0002875	Exertional dyspnea	HP:0040284	ORPHA:98915
8292	COLQ	HP:0000207	Triangular mouth	HP:0040284	ORPHA:98915
8292	COLQ	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040282	ORPHA:98915
8292	COLQ	HP:0030203	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	HP:0040282	ORPHA:98915
8292	COLQ	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	0/12	OMIM:603034
8292	COLQ	HP:0005216	Impaired mastication	HP:0040283	ORPHA:98915
8292	COLQ	HP:0001612	Weak cry	HP:0040282	ORPHA:98915
8292	COLQ	HP:0001612	Weak cry	-	OMIM:603034
8292	COLQ	HP:0001667	Right ventricular hypertrophy	HP:0040284	ORPHA:98915
8292	COLQ	HP:0000303	Mandibular prognathia	HP:0040284	ORPHA:98915
8292	COLQ	HP:0007941	Limited extraocular movements	HP:0040283	ORPHA:98915
8292	COLQ	HP:0030211	Slow pupillary light response	HP:0040283	ORPHA:98915
8292	COLQ	HP:0030237	Hand muscle weakness	HP:0040284	ORPHA:98915
8292	COLQ	HP:0000467	Neck muscle weakness	HP:0040282	ORPHA:98915
8292	COLQ	HP:0000467	Neck muscle weakness	1/6	OMIM:603034
8292	COLQ	HP:0001762	Talipes equinovarus	HP:0040284	ORPHA:98915
8292	COLQ	HP:0000508	Ptosis	HP:0040282	ORPHA:98915
8292	COLQ	HP:0000508	Ptosis	1/6	OMIM:603034
8292	COLQ	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:98915
8292	COLQ	HP:0000597	Ophthalmoparesis	-	OMIM:603034
8294	H4C9	HP:0001252	Hypotonia	1/3	OMIM:619951
8294	H4C9	HP:0001249	Intellectual disability	1/2	OMIM:619951
8294	H4C9	HP:0001263	Global developmental delay	3/3	OMIM:619951
8294	H4C9	HP:0002558	Supernumerary nipple	1/3	OMIM:619951
8294	H4C9	HP:0002553	Highly arched eyebrow	1/3	OMIM:619951
8294	H4C9	HP:0000076	Vesicoureteral reflux	1/3	OMIM:619951
8294	H4C9	HP:0000054	Micropenis	1/1	OMIM:619951
8294	H4C9	HP:0001382	Joint hypermobility	1/3	OMIM:619951
8294	H4C9	HP:0000028	Cryptorchidism	1/1	OMIM:619951
8294	H4C9	HP:0000006	Autosomal dominant inheritance	-	OMIM:619951
8294	H4C9	HP:0002650	Scoliosis	1/3	OMIM:619951
8294	H4C9	HP:0007663	Reduced visual acuity	1/3	OMIM:619951
8294	H4C9	HP:0000122	Unilateral renal agenesis	1/3	OMIM:619951
8294	H4C9	HP:0004691	2-3 toe syndactyly	1/3	OMIM:619951
8294	H4C9	HP:0002002	Deep philtrum	1/3	OMIM:619951
8294	H4C9	HP:0011939	3-4 finger cutaneous syndactyly	1/3	OMIM:619951
8294	H4C9	HP:0100490	Camptodactyly of finger	1/3	OMIM:619951
8294	H4C9	HP:0003593	Infantile onset	3/3	OMIM:619951
8294	H4C9	HP:0011968	Feeding difficulties	1/3	OMIM:619951
8294	H4C9	HP:0010803	Everted upper lip vermilion	1/3	OMIM:619951
8294	H4C9	HP:0001909	Leukemia	1/3	OMIM:619951
8294	H4C9	HP:0011318	Bicoronal synostosis	1/3	OMIM:619951
8294	H4C9	HP:0004467	Preauricular pit	3/3	OMIM:619951
8294	H4C9	HP:0000954	Single transverse palmar crease	1/3	OMIM:619951
8294	H4C9	HP:0002808	Kyphosis	1/3	OMIM:619951
8294	H4C9	HP:0000238	Hydrocephalus	1/2	OMIM:619951
8294	H4C9	HP:0002863	Myelodysplasia	1/3	OMIM:619951
8294	H4C9	HP:0000384	Preauricular skin tag	1/3	OMIM:619951
8294	H4C9	HP:0000365	Hearing impairment	2/3	OMIM:619951
8294	H4C9	HP:0000358	Posteriorly rotated ears	1/3	OMIM:619951
8294	H4C9	HP:0000369	Low-set ears	1/3	OMIM:619951
8294	H4C9	HP:0000341	Narrow forehead	2/3	OMIM:619951
8294	H4C9	HP:0001684	Secundum atrial septal defect	1/3	OMIM:619951
8294	H4C9	HP:0000347	Micrognathia	1/3	OMIM:619951
8294	H4C9	HP:0000316	Hypertelorism	2/3	OMIM:619951
8294	H4C9	HP:0000322	Short philtrum	2/3	OMIM:619951
8294	H4C9	HP:0005280	Depressed nasal bridge	1/3	OMIM:619951
8294	H4C9	HP:0000486	Strabismus	3/6	OMIM:619951
8294	H4C9	HP:0000494	Downslanted palpebral fissures	1/3	OMIM:619951
8294	H4C9	HP:0000426	Prominent nasal bridge	1/3	OMIM:619951
8294	H4C9	HP:0001852	Sandal gap	1/3	OMIM:619951
8294	H4C9	HP:0001822	Hallux valgus	1/3	OMIM:619951
8294	H4C9	HP:0001838	Rocker bottom foot	1/3	OMIM:619951
8294	H4C9	HP:0012520	Dilation of Virchow-Robin spaces	1/2	OMIM:619951
8295	TRRAP	HP:0002465	Poor speech	-	OMIM:618454
8295	TRRAP	HP:0010862	Delayed fine motor development	1/1	OMIM:618454
8295	TRRAP	HP:0001250	Seizure	4/24	OMIM:618454
8295	TRRAP	HP:0001252	Hypotonia	8/24	OMIM:618454
8295	TRRAP	HP:0001249	Intellectual disability	17/20	OMIM:618454
8295	TRRAP	HP:0001263	Global developmental delay	24/24	OMIM:618454
8295	TRRAP	HP:0002558	Supernumerary nipple	4/24	OMIM:618454
8295	TRRAP	HP:0008755	Laryngotracheomalacia	3/24	OMIM:618454
8295	TRRAP	HP:0007366	Atrophy/Degeneration affecting the brainstem	-	OMIM:618454
8295	TRRAP	HP:0002553	Highly arched eyebrow	-	OMIM:618454
8295	TRRAP	HP:0000089	Renal hypoplasia	4/24	OMIM:618454
8295	TRRAP	HP:0000076	Vesicoureteral reflux	3/24	OMIM:618454
8295	TRRAP	HP:0000046	Small scrotum	11/16	OMIM:618454
8295	TRRAP	HP:0000023	Inguinal hernia	1/24	OMIM:618454
8295	TRRAP	HP:0000028	Cryptorchidism	1/6	OMIM:618454
8295	TRRAP	HP:0001344	Absent speech	-	OMIM:618454
8295	TRRAP	HP:0000006	Autosomal dominant inheritance	-	OMIM:618778
8295	TRRAP	HP:0000006	Autosomal dominant inheritance	-	OMIM:618454
8295	TRRAP	HP:0001320	Cerebellar vermis hypoplasia	6/24	OMIM:618454
8295	TRRAP	HP:0002650	Scoliosis	3/24	OMIM:618454
8295	TRRAP	HP:0000175	Cleft palate	5/24	OMIM:618454
8295	TRRAP	HP:0000154	Wide mouth	-	OMIM:618454
8295	TRRAP	HP:0410030	Cleft lip	5/24	OMIM:618454
8295	TRRAP	HP:0000126	Hydronephrosis	6/24	OMIM:618454
8295	TRRAP	HP:0000107	Renal cyst	4/24	OMIM:618454
8295	TRRAP	HP:0002719	Recurrent infections	3/24	OMIM:618454
8295	TRRAP	HP:0002092	Pulmonary arterial hypertension	2/24	OMIM:618454
8295	TRRAP	HP:0002079	Hypoplasia of the corpus callosum	1/24	OMIM:618454
8295	TRRAP	HP:0002120	Cerebral cortical atrophy	2/24	OMIM:618454
8295	TRRAP	HP:0002119	Ventriculomegaly	3/24	OMIM:618454
8295	TRRAP	HP:0002126	Polymicrogyria	-	OMIM:618454
8295	TRRAP	HP:0002188	Delayed CNS myelination	1/24	OMIM:618454
8295	TRRAP	HP:0002194	Delayed gross motor development	1/1	OMIM:618454
8295	TRRAP	HP:0002164	Nail dysplasia	8/24	OMIM:618454
8295	TRRAP	HP:0011968	Feeding difficulties	8/24	OMIM:618454
8295	TRRAP	HP:0002395	Lower limb hyperreflexia	5/24	OMIM:618454
8295	TRRAP	HP:0004209	Clinodactyly of the 5th finger	4/24	OMIM:618454
8295	TRRAP	HP:0000601	Hypotelorism	-	OMIM:618454
8295	TRRAP	HP:0004322	Short stature	7/23	OMIM:618454
8295	TRRAP	HP:0031936	Delayed ability to walk	-	OMIM:618454
8295	TRRAP	HP:0000738	Hallucinations	1/1	OMIM:618454
8295	TRRAP	HP:0000750	Delayed speech and language development	-	OMIM:618454
8295	TRRAP	HP:0000729	Autistic behavior	6/25	OMIM:618454
8295	TRRAP	HP:0000722	Compulsive behaviors	1/1	OMIM:618454
8295	TRRAP	HP:0000709	Psychosis	1/1	OMIM:618454
8295	TRRAP	HP:0011463	Childhood onset	1/1	OMIM:618454
8295	TRRAP	HP:0011462	Young adult onset	2/2	OMIM:618778
8295	TRRAP	HP:0000776	Congenital diaphragmatic hernia	1/24	OMIM:618454
8295	TRRAP	HP:0005709	2-3 toe cutaneous syndactyly	2/24	OMIM:618454
8295	TRRAP	HP:0003196	Short nose	-	OMIM:618454
8295	TRRAP	HP:0000286	Epicanthus	-	OMIM:618454
8295	TRRAP	HP:0000252	Microcephaly	7/24	OMIM:618454
8295	TRRAP	HP:0000219	Thin upper lip vermilion	-	OMIM:618454
8295	TRRAP	HP:0001537	Umbilical hernia	1/24	OMIM:618454
8295	TRRAP	HP:0001539	Omphalocele	1/24	OMIM:618454
8295	TRRAP	HP:0000365	Hearing impairment	3/24	OMIM:618454
8295	TRRAP	HP:0000358	Posteriorly rotated ears	-	OMIM:618454
8295	TRRAP	HP:0000375	Abnormal cochlea morphology	0/4	OMIM:618778
8295	TRRAP	HP:0000369	Low-set ears	-	OMIM:618454
8295	TRRAP	HP:0001680	Coarctation of aorta	2/24	OMIM:618454
8295	TRRAP	HP:0000347	Micrognathia	-	OMIM:618454
8295	TRRAP	HP:0000319	Smooth philtrum	-	OMIM:618454
8295	TRRAP	HP:0000316	Hypertelorism	-	OMIM:618454
8295	TRRAP	HP:0001643	Patent ductus arteriosus	3/24	OMIM:618454
8295	TRRAP	HP:0000322	Short philtrum	-	OMIM:618454
8295	TRRAP	HP:0001655	Patent foramen ovale	3/24	OMIM:618454
8295	TRRAP	HP:0001629	Ventricular septal defect	5/24	OMIM:618454
8295	TRRAP	HP:0007925	Lacrimal duct aplasia	3/24	OMIM:618454
8295	TRRAP	HP:0000407	Sensorineural hearing impairment	4/4	OMIM:618778
8295	TRRAP	HP:0005280	Depressed nasal bridge	-	OMIM:618454
8295	TRRAP	HP:0000490	Deeply set eye	-	OMIM:618454
8295	TRRAP	HP:0001792	Small nail	-	OMIM:618454
8295	TRRAP	HP:0000463	Anteverted nares	-	OMIM:618454
8295	TRRAP	HP:0000460	Narrow nose	-	OMIM:618454
8295	TRRAP	HP:0001773	Short foot	-	OMIM:618454
8295	TRRAP	HP:0030260	Microphallus	1/6	OMIM:618454
8295	TRRAP	HP:0000414	Bulbous nose	-	OMIM:618454
8295	TRRAP	HP:0000431	Wide nasal bridge	-	OMIM:618454
8295	TRRAP	HP:0000426	Prominent nasal bridge	-	OMIM:618454
8295	TRRAP	HP:0000505	Visual impairment	4/24	OMIM:618454
8295	TRRAP	HP:0000582	Upslanted palpebral fissure	-	OMIM:618454
8295	TRRAP	HP:0000588	Optic disc coloboma	1/24	OMIM:618454
8295	TRRAP	HP:0011220	Prominent forehead	-	OMIM:618454
8301	PICALM	HP:0000006	Autosomal dominant inheritance	-	OMIM:601626
8301	PICALM	HP:0001442	Typified by somatic mosaicism	-	OMIM:601626
8301	PICALM	HP:0004808	Acute myeloid leukemia	-	OMIM:601626
8302	KLRC4	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:117
8302	KLRC4	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:117
8302	KLRC4	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:117
8302	KLRC4	HP:0001269	Hemiparesis	HP:0040282	ORPHA:117
8302	KLRC4	HP:0001287	Meningitis	HP:0040281	ORPHA:117
8302	KLRC4	HP:0001289	Confusion	HP:0040282	ORPHA:117
8302	KLRC4	HP:0001288	Gait disturbance	HP:0040282	ORPHA:117
8302	KLRC4	HP:0001250	Seizure	HP:0040283	ORPHA:117
8302	KLRC4	HP:0001251	Ataxia	HP:0040283	ORPHA:117
8302	KLRC4	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:117
8302	KLRC4	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:117
8302	KLRC4	HP:0000099	Glomerulonephritis	HP:0040284	ORPHA:117
8302	KLRC4	HP:0001369	Arthritis	HP:0040281	ORPHA:117
8302	KLRC4	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:117
8302	KLRC4	HP:0000031	Epididymitis	HP:0040283	ORPHA:117
8302	KLRC4	HP:0002638	Superficial thrombophlebitis	HP:0040282	ORPHA:117
8302	KLRC4	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:117
8302	KLRC4	HP:0002633	Vasculitis	HP:0040281	ORPHA:117
8302	KLRC4	HP:0000155	Oral ulcer	HP:0040281	ORPHA:117
8302	KLRC4	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:117
8302	KLRC4	HP:0012121	Panuveitis	HP:0040282	ORPHA:117
8302	KLRC4	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:117
8302	KLRC4	HP:0002024	Malabsorption	HP:0040283	ORPHA:117
8302	KLRC4	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:117
8302	KLRC4	HP:0002027	Abdominal pain	HP:0040282	ORPHA:117
8302	KLRC4	HP:0003326	Myalgia	HP:0040281	ORPHA:117
8302	KLRC4	HP:0002014	Diarrhea	HP:0040284	ORPHA:117
8302	KLRC4	HP:0002076	Migraine	HP:0040281	ORPHA:117
8302	KLRC4	HP:0002039	Anorexia	HP:0040283	ORPHA:117
8302	KLRC4	HP:0100584	Endocarditis	HP:0040283	ORPHA:117
8302	KLRC4	HP:0002102	Pleuritis	HP:0040283	ORPHA:117
8302	KLRC4	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:117
8302	KLRC4	HP:0002105	Hemoptysis	HP:0040283	ORPHA:117
8302	KLRC4	HP:0003401	Paresthesia	HP:0040283	ORPHA:117
8302	KLRC4	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:117
8302	KLRC4	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:117
8302	KLRC4	HP:0002202	Pleural effusion	HP:0040283	ORPHA:117
8302	KLRC4	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:117
8302	KLRC4	HP:0100796	Orchitis	HP:0040281	ORPHA:117
8302	KLRC4	HP:0100758	Gangrene	HP:0040283	ORPHA:117
8302	KLRC4	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:117
8302	KLRC4	HP:0001061	Acne	HP:0040282	ORPHA:117
8302	KLRC4	HP:0002376	Developmental regression	HP:0040283	ORPHA:117
8302	KLRC4	HP:0002354	Memory impairment	HP:0040283	ORPHA:117
8302	KLRC4	HP:0002321	Vertigo	HP:0040283	ORPHA:117
8302	KLRC4	HP:0002315	Headache	HP:0040282	ORPHA:117
8302	KLRC4	HP:0100653	Optic neuritis	HP:0040283	ORPHA:117
8302	KLRC4	HP:0100654	Retrobulbar optic neuritis	HP:0040283	ORPHA:117
8302	KLRC4	HP:0200034	Papule	HP:0040281	ORPHA:117
8302	KLRC4	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:117
8302	KLRC4	HP:0100614	Myositis	HP:0040283	ORPHA:117
8302	KLRC4	HP:0200039	Pustule	HP:0040282	ORPHA:117
8302	KLRC4	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:117
8302	KLRC4	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:117
8302	KLRC4	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:117
8302	KLRC4	HP:4000041	AA amyloidosis	HP:0040283	ORPHA:117
8302	KLRC4	HP:0000618	Blindness	HP:0040283	ORPHA:117
8302	KLRC4	HP:0000613	Photophobia	HP:0040281	ORPHA:117
8302	KLRC4	HP:0001945	Fever	HP:0040281	ORPHA:117
8302	KLRC4	HP:0001954	Recurrent fever	HP:0040283	ORPHA:117
8302	KLRC4	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:117
8302	KLRC4	HP:0000737	Irritability	HP:0040283	ORPHA:117
8302	KLRC4	HP:0000708	Atypical behavior	HP:0040283	ORPHA:117
8302	KLRC4	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:117
8302	KLRC4	HP:0100326	Immunologic hypersensitivity	HP:0040282	ORPHA:117
8302	KLRC4	HP:0012819	Myocarditis	HP:0040283	ORPHA:117
8302	KLRC4	HP:0003249	Genital ulcers	HP:0040282	ORPHA:117
8302	KLRC4	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:117
8302	KLRC4	HP:0002829	Arthralgia	HP:0040282	ORPHA:117
8302	KLRC4	HP:0025532	Positive pathergy test	HP:0040282	ORPHA:117
8302	KLRC4	HP:0012219	Erythema nodosum	HP:0040282	ORPHA:117
8302	KLRC4	HP:0007813	Nongranulomatous uveitis	HP:0040282	ORPHA:117
8302	KLRC4	HP:0012378	Fatigue	HP:0040281	ORPHA:117
8302	KLRC4	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:117
8302	KLRC4	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:117
8302	KLRC4	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:117
8302	KLRC4	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:117
8302	KLRC4	HP:0001733	Pancreatitis	HP:0040283	ORPHA:117
8302	KLRC4	HP:0001701	Pericarditis	HP:0040283	ORPHA:117
8302	KLRC4	HP:0000488	Retinopathy	HP:0040283	ORPHA:117
8302	KLRC4	HP:0011107	Recurrent aphthous stomatitis	HP:0040281	ORPHA:117
8302	KLRC4	HP:0001744	Splenomegaly	HP:0040283	ORPHA:117
8302	KLRC4	HP:0000518	Cataract	HP:0040283	ORPHA:117
8302	KLRC4	HP:0001824	Weight loss	HP:0040283	ORPHA:117
8302	KLRC4	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:117
8309	ACOX2	HP:0001256	Intellectual disability, mild	1/1	OMIM:617308
8309	ACOX2	HP:0001251	Ataxia	-	OMIM:617308
8309	ACOX2	HP:0001263	Global developmental delay	1/1	OMIM:617308
8309	ACOX2	HP:0002570	Steatorrhea	1/1	OMIM:617308
8309	ACOX2	HP:0001350	Slurred speech	1/1	OMIM:617308
8309	ACOX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617308
8309	ACOX2	HP:0001310	Dysmetria	1/1	OMIM:617308
8309	ACOX2	HP:0002066	Gait ataxia	1/1	OMIM:617308
8309	ACOX2	HP:0100512	Decreased circulating vitamin D concentration	1/1	OMIM:617308
8309	ACOX2	HP:0003593	Infantile onset	1/1	OMIM:617308
8309	ACOX2	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:617308
8309	ACOX2	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:617308
8309	ACOX2	HP:0000750	Delayed speech and language development	1/1	OMIM:617308
8309	ACOX2	HP:0045014	Hypolipidemia	1/1	OMIM:617308
8309	ACOX2	HP:0000511	Vertical supranuclear gaze palsy	1/1	OMIM:617308
8312	AXIN1	HP:0003762	Uterus didelphys	-	OMIM:607864
8312	AXIN1	HP:0001270	Motor delay	1/2	OMIM:620558
8312	AXIN1	HP:0001263	Global developmental delay	3/7	OMIM:620558
8312	AXIN1	HP:0000073	Ureteral duplication	-	OMIM:607864
8312	AXIN1	HP:0001385	Hip dysplasia	5/6	OMIM:620558
8312	AXIN1	HP:0002684	Thickened calvaria	5/5	OMIM:620558
8312	AXIN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620558
8312	AXIN1	HP:0001302	Pachygyria	1/6	OMIM:620558
8312	AXIN1	HP:0001442	Typified by somatic mosaicism	-	OMIM:114550
8312	AXIN1	HP:0001402	Hepatocellular carcinoma	-	OMIM:114550
8312	AXIN1	HP:0001413	Micronodular cirrhosis	-	OMIM:114550
8312	AXIN1	HP:0002007	Frontal bossing	1/1	OMIM:620558
8312	AXIN1	HP:0004618	Sandwich appearance of vertebral bodies	6/6	OMIM:620558
8312	AXIN1	HP:0002079	Hypoplasia of the corpus callosum	1/6	OMIM:620558
8312	AXIN1	HP:0003593	Infantile onset	2/5	OMIM:620558
8312	AXIN1	HP:0003577	Congenital onset	1/5	OMIM:620558
8312	AXIN1	HP:0100702	Arachnoid cyst	1/6	OMIM:620558
8312	AXIN1	HP:0100670	Coarse metaphyseal trabecularization	6/6	OMIM:620558
8312	AXIN1	HP:0003623	Neonatal onset	1/5	OMIM:620558
8312	AXIN1	HP:0003015	Flared metaphysis	3/3	OMIM:620558
8312	AXIN1	HP:0012731	Ectopic anterior pituitary gland	1/6	OMIM:620558
8312	AXIN1	HP:0011463	Childhood onset	1/5	OMIM:620558
8312	AXIN1	HP:0004482	Relative macrocephaly	2/2	OMIM:620558
8312	AXIN1	HP:5200001	Selective mutism	2/7	OMIM:620558
8312	AXIN1	HP:0000935	Thickened cortex of long bones	5/5	OMIM:620558
8312	AXIN1	HP:0000256	Macrocephaly	4/4	OMIM:620558
8312	AXIN1	HP:0006572	Subacute progressive viral hepatitis	-	OMIM:114550
8312	AXIN1	HP:0000341	Narrow forehead	1/1	OMIM:620558
8312	AXIN1	HP:0011001	Increased bone mineral density	7/7	OMIM:620558
8312	AXIN1	HP:0000316	Hypertelorism	7/7	OMIM:620558
8312	AXIN1	HP:0001643	Patent ductus arteriosus	1/7	OMIM:620558
8312	AXIN1	HP:0001629	Ventricular septal defect	2/7	OMIM:620558
8312	AXIN1	HP:0001631	Atrial septal defect	2/7	OMIM:620558
8312	AXIN1	HP:0005280	Depressed nasal bridge	7/7	OMIM:620558
8312	AXIN1	HP:0000463	Anteverted nares	1/1	OMIM:620558
8312	AXIN1	HP:0012444	Brain atrophy	1/6	OMIM:620558
8312	AXIN1	HP:0000452	Choanal stenosis	1/7	OMIM:620558
8312	AXIN1	HP:0000520	Proptosis	1/1	OMIM:620558
8312	AXIN1	HP:0012541	Cephalohematoma	1/6	OMIM:620558
8313	AXIN2	HP:0002576	Intussusception	HP:0040283	OMIM:174900
8313	AXIN2	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
8313	AXIN2	HP:0001217	Clubbing	HP:0040283	OMIM:174900
8313	AXIN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
8313	AXIN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
8313	AXIN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
8313	AXIN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:608615
8313	AXIN2	HP:0033769	Fundic gland polyposis	1/5	OMIM:608615
8313	AXIN2	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
8313	AXIN2	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
8313	AXIN2	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
8313	AXIN2	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
8313	AXIN2	HP:0002223	Absent eyebrow	3/5	OMIM:608615
8313	AXIN2	HP:0002215	Sparse axillary hair	1/5	OMIM:608615
8313	AXIN2	HP:0002231	Sparse body hair	1/5	OMIM:608615
8313	AXIN2	HP:0002209	Sparse scalp hair	3/5	OMIM:608615
8313	AXIN2	HP:0100743	Neoplasm of the rectum	HP:0040283	ORPHA:401911
8313	AXIN2	HP:0200063	Colorectal polyposis	HP:0040282	ORPHA:401911
8313	AXIN2	HP:0010764	Short eyelashes	1/5	OMIM:608615
8313	AXIN2	HP:0005584	Renal cell carcinoma	-	OMIM:114500
8313	AXIN2	HP:0001903	Anemia	HP:0040282	OMIM:174900
8313	AXIN2	HP:0000677	Oligodontia	15/15	OMIM:608615
8313	AXIN2	HP:0003002	Breast carcinoma	1/5	OMIM:608615
8313	AXIN2	HP:0003003	Colon cancer	HP:0040283	ORPHA:401911
8313	AXIN2	HP:0003003	Colon cancer	1/5	OMIM:608615
8313	AXIN2	HP:0003003	Colon cancer	20%	OMIM:174900
8313	AXIN2	HP:0003003	Colon cancer	5/12	OMIM:608456
8313	AXIN2	HP:0003073	Hypoalbuminemia	-	OMIM:174900
8313	AXIN2	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
8313	AXIN2	HP:0000968	Ectodermal dysplasia	-	ORPHA:401911
8313	AXIN2	HP:0008070	Sparse hair	-	ORPHA:401911
8313	AXIN2	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
8313	AXIN2	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
8313	AXIN2	HP:0005227	Adenomatous colonic polyposis	HP:0040282	ORPHA:401911
8313	AXIN2	HP:0005227	Adenomatous colonic polyposis	5/17	OMIM:608615
8313	AXIN2	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
8313	AXIN2	HP:0002900	Hypokalemia	-	OMIM:174900
8313	AXIN2	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
8313	AXIN2	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
8313	AXIN2	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
8313	AXIN2	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
8313	AXIN2	HP:3000050	Abnormal odontoid tissue morphology	-	ORPHA:401911
8313	AXIN2	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
8314	BAP1	HP:0025142	Constitutional symptom	HP:0040282	ORPHA:50251
8314	BAP1	HP:0001156	Brachydactyly	2/11	OMIM:619762
8314	BAP1	HP:0010920	Zonular cataract	HP:0040283	ORPHA:39044
8314	BAP1	HP:0003764	Nevus	HP:0040281	ORPHA:618
8314	BAP1	HP:0001270	Motor delay	6/11	OMIM:619762
8314	BAP1	HP:0001269	Hemiparesis	HP:0040283	ORPHA:2495
8314	BAP1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:2495
8314	BAP1	HP:0001279	Syncope	HP:0040284	ORPHA:2495
8314	BAP1	HP:0001250	Seizure	HP:0040282	ORPHA:2495
8314	BAP1	HP:0001250	Seizure	6/11	OMIM:619762
8314	BAP1	HP:0001252	Hypotonia	7/11	OMIM:619762
8314	BAP1	HP:0001251	Ataxia	HP:0040283	ORPHA:2495
8314	BAP1	HP:0001249	Intellectual disability	-	OMIM:619762
8314	BAP1	HP:0001263	Global developmental delay	11/11	OMIM:619762
8314	BAP1	HP:0001262	Excessive daytime somnolence	HP:0040284	ORPHA:2495
8314	BAP1	HP:0006101	Finger syndactyly	3/11	OMIM:619762
8314	BAP1	HP:0031041	Obstruction of the superior vena cava	HP:0040283	ORPHA:50251
8314	BAP1	HP:0010997	Chromosomal breakage induced by ionizing radiation	HP:0040281	ORPHA:2495
8314	BAP1	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:2495
8314	BAP1	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:2495
8314	BAP1	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:2495
8314	BAP1	HP:0002512	Brain stem compression	HP:0040284	ORPHA:2495
8314	BAP1	HP:0012055	Ciliary body melanoma	HP:0040282	ORPHA:39044
8314	BAP1	HP:0012056	Cutaneous melanoma	5/23	OMIM:614327
8314	BAP1	HP:0012054	Choroidal melanoma	HP:0040281	ORPHA:39044
8314	BAP1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:2495
8314	BAP1	HP:0001385	Hip dysplasia	1/11	OMIM:619762
8314	BAP1	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:2495
8314	BAP1	HP:0001342	Cerebral hemorrhage	HP:0040284	ORPHA:2495
8314	BAP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614327
8314	BAP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:606661
8314	BAP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619762
8314	BAP1	HP:0002650	Scoliosis	2/11	OMIM:619762
8314	BAP1	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:2495
8314	BAP1	HP:0000141	Amenorrhea	HP:0040282	ORPHA:2495
8314	BAP1	HP:0001480	Freckling	HP:0040282	ORPHA:618
8314	BAP1	HP:0002795	Abnormal respiratory system physiology	HP:0040283	ORPHA:50251
8314	BAP1	HP:0000126	Hydronephrosis	1/11	OMIM:619762
8314	BAP1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:50251
8314	BAP1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:2495
8314	BAP1	HP:0002015	Dysphagia	HP:0040283	ORPHA:50251
8314	BAP1	HP:0002007	Frontal bossing	1/11	OMIM:619762
8314	BAP1	HP:0100533	Inflammatory abnormality of the eye	HP:0040284	ORPHA:39044
8314	BAP1	HP:0002088	Abnormal lung morphology	HP:0040283	ORPHA:50251
8314	BAP1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2495
8314	BAP1	HP:0002098	Respiratory distress	HP:0040282	ORPHA:50251
8314	BAP1	HP:0002094	Dyspnea	HP:0040282	ORPHA:50251
8314	BAP1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:618
8314	BAP1	HP:0011752	Neoplasm of the posterior pituitary	HP:0040284	ORPHA:2495
8314	BAP1	HP:0011750	Neoplasm of the anterior pituitary	HP:0040283	ORPHA:2495
8314	BAP1	HP:0011730	Abnormal central sensory function	HP:0040283	ORPHA:2495
8314	BAP1	HP:0008163	Decreased circulating cortisol level	HP:0040282	ORPHA:2495
8314	BAP1	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:2495
8314	BAP1	HP:0002103	Abnormal pleura morphology	HP:0040282	ORPHA:50251
8314	BAP1	HP:0003418	Back pain	HP:0040284	ORPHA:2495
8314	BAP1	HP:0009623	Proximal placement of thumb	1/11	OMIM:619762
8314	BAP1	HP:0002167	Abnormal speech pattern	HP:0040284	ORPHA:2495
8314	BAP1	HP:0008240	Secondary growth hormone deficiency	HP:0040282	ORPHA:2495
8314	BAP1	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:2495
8314	BAP1	HP:0008237	Hypothalamic hypothyroidism	HP:0040283	ORPHA:2495
8314	BAP1	HP:0010534	Transient global amnesia	HP:0040284	ORPHA:2495
8314	BAP1	HP:0008214	Decreased serum estradiol	HP:0040282	ORPHA:2495
8314	BAP1	HP:0008202	Reduced circulating prolactin concentration	HP:0040283	ORPHA:2495
8314	BAP1	HP:0003596	Middle age onset	3/8	OMIM:614327
8314	BAP1	HP:0003577	Congenital onset	11/11	OMIM:619762
8314	BAP1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:50251
8314	BAP1	HP:0003584	Late onset	1/8	OMIM:614327
8314	BAP1	HP:0003581	Adult onset	-	OMIM:606661
8314	BAP1	HP:0002202	Pleural effusion	HP:0040281	ORPHA:50251
8314	BAP1	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:618
8314	BAP1	HP:0100749	Chest pain	HP:0040282	ORPHA:50251
8314	BAP1	HP:0007011	Fourth cranial nerve palsy	HP:0040283	ORPHA:50251
8314	BAP1	HP:0007018	Attention deficit hyperactivity disorder	3/10	OMIM:619762
8314	BAP1	HP:0011968	Feeding difficulties	4/8	OMIM:619762
8314	BAP1	HP:0010628	Facial palsy	HP:0040283	ORPHA:2495
8314	BAP1	HP:0001067	Neurofibroma	HP:0040283	ORPHA:2495
8314	BAP1	HP:0002354	Memory impairment	HP:0040283	ORPHA:2495
8314	BAP1	HP:0002315	Headache	HP:0040282	ORPHA:2495
8314	BAP1	HP:0100648	Neoplasm of the tongue	HP:0040284	ORPHA:2495
8314	BAP1	HP:0200026	Ocular pain	HP:0040284	ORPHA:39044
8314	BAP1	HP:0100661	Trigeminal neuralgia	HP:0040283	ORPHA:2495
8314	BAP1	HP:0010828	Hemifacial spasm	HP:0040284	ORPHA:2495
8314	BAP1	HP:0010804	Tented upper lip vermilion	1/11	OMIM:619762
8314	BAP1	HP:0001098	Abnormal fundus morphology	HP:0040281	ORPHA:39044
8314	BAP1	HP:0001085	Papilledema	HP:0040283	ORPHA:2495
8314	BAP1	HP:0008494	Inferior lens subluxation	HP:0040283	ORPHA:39044
8314	BAP1	HP:0030521	Bitemporal hemianopia	HP:0040282	ORPHA:2495
8314	BAP1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:2495
8314	BAP1	HP:0030532	Visual acuity test abnormality	HP:0040283	ORPHA:2495
8314	BAP1	HP:0005584	Renal cell carcinoma	-	OMIM:614327
8314	BAP1	HP:0000618	Blindness	HP:0040284	ORPHA:2495
8314	BAP1	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2495
8314	BAP1	HP:0012691	Focal T2 hypointense thalamic lesion	HP:0040282	ORPHA:2495
8314	BAP1	HP:0030490	Exudative vitreoretinopathy	1/11	OMIM:619762
8314	BAP1	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:2495
8314	BAP1	HP:0000687	Widely spaced teeth	1/11	OMIM:619762
8314	BAP1	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:2495
8314	BAP1	HP:0000802	Impotence	HP:0040282	ORPHA:2495
8314	BAP1	HP:0100010	Spinal meningioma	HP:0040283	ORPHA:2495
8314	BAP1	HP:0100013	Neoplasm of the breast	HP:0040283	ORPHA:618
8314	BAP1	HP:0100009	Intracranial meningioma	HP:0040281	ORPHA:2495
8314	BAP1	HP:0012735	Cough	HP:0040282	ORPHA:50251
8314	BAP1	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:50251
8314	BAP1	HP:0000750	Delayed speech and language development	11/11	OMIM:619762
8314	BAP1	HP:0000712	Emotional lability	HP:0040284	ORPHA:2495
8314	BAP1	HP:0000729	Autistic behavior	2/10	OMIM:619762
8314	BAP1	HP:0100001	Malignant mesothelioma	1/8	OMIM:614327
8314	BAP1	HP:0011499	Mydriasis	HP:0040283	ORPHA:39044
8314	BAP1	HP:0030591	Abnormal kinetic perimetry test	HP:0040283	ORPHA:2495
8314	BAP1	HP:0011462	Young adult onset	4/8	OMIM:614327
8314	BAP1	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:2495
8314	BAP1	HP:0030766	Ear pain	HP:0040284	ORPHA:2495
8314	BAP1	HP:0030786	Photopsia	HP:0040283	ORPHA:39044
8314	BAP1	HP:0004408	Abnormality of the sense of smell	HP:0040283	ORPHA:2495
8314	BAP1	HP:0011524	Iris melanoma	HP:0040282	ORPHA:39044
8314	BAP1	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:2495
8314	BAP1	HP:0030878	Abnormality on pulmonary function testing	HP:0040284	ORPHA:2495
8314	BAP1	HP:0045026	Abnormal mediastinum morphology	HP:0040284	ORPHA:2495
8314	BAP1	HP:0030800	Abnormal visual accommodation	HP:0040283	ORPHA:39044
8314	BAP1	HP:0000998	Hypertrichosis	3/11	OMIM:619762
8314	BAP1	HP:0000958	Dry skin	HP:0040282	ORPHA:618
8314	BAP1	HP:0000960	Sacral dimple	1/11	OMIM:619762
8314	BAP1	HP:0040171	Decreased serum testosterone concentration	HP:0040282	ORPHA:2495
8314	BAP1	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:2495
8314	BAP1	HP:0007715	Weak extraocular muscles	HP:0040283	ORPHA:2495
8314	BAP1	HP:0007716	Uveal melanoma	4/23	OMIM:614327
8314	BAP1	HP:0007716	Uveal melanoma	-	OMIM:606661
8314	BAP1	HP:0012285	Abnormal hypothalamus physiology	HP:0040283	ORPHA:2495
8314	BAP1	HP:0000280	Coarse facial features	1/11	OMIM:619762
8314	BAP1	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:618
8314	BAP1	HP:0001596	Alopecia	1/11	OMIM:619762
8314	BAP1	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:2495
8314	BAP1	HP:0030078	Lung adenocarcinoma	1/8	OMIM:614327
8314	BAP1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2495
8314	BAP1	HP:0000248	Brachycephaly	1/11	OMIM:619762
8314	BAP1	HP:0000218	High palate	1/11	OMIM:619762
8314	BAP1	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:618
8314	BAP1	HP:0002861	Melanoma	HP:0040281	ORPHA:618
8314	BAP1	HP:0002858	Meningioma	1/8	OMIM:614327
8314	BAP1	HP:0000207	Triangular mouth	2/11	OMIM:619762
8314	BAP1	HP:0001510	Growth delay	9/11	OMIM:619762
8314	BAP1	HP:0001513	Obesity	HP:0040283	ORPHA:2495
8314	BAP1	HP:0011025	Abnormal cardiovascular system physiology	HP:0040283	ORPHA:50251
8314	BAP1	HP:0006520	Progressive pulmonary function impairment	HP:0040284	ORPHA:2495
8314	BAP1	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:2495
8314	BAP1	HP:0000360	Tinnitus	HP:0040284	ORPHA:2495
8314	BAP1	HP:0011003	High myopia	1/11	OMIM:619762
8314	BAP1	HP:0000369	Low-set ears	1/11	OMIM:619762
8314	BAP1	HP:0000343	Long philtrum	4/11	OMIM:619762
8314	BAP1	HP:0001629	Ventricular septal defect	1/11	OMIM:619762
8314	BAP1	HP:0007924	Slow decrease in visual acuity	HP:0040283	ORPHA:2495
8314	BAP1	HP:0007902	Vitreous hemorrhage	HP:0040283	ORPHA:39044
8314	BAP1	HP:0007906	Ocular hypertension	HP:0040283	ORPHA:39044
8314	BAP1	HP:0000403	Recurrent otitis media	4/11	OMIM:619762
8314	BAP1	HP:0000483	Astigmatism	2/11	OMIM:619762
8314	BAP1	HP:0000486	Strabismus	3/11	OMIM:619762
8314	BAP1	HP:0000494	Downslanted palpebral fissures	1/11	OMIM:619762
8314	BAP1	HP:0000490	Deeply set eye	1/11	OMIM:619762
8314	BAP1	HP:0011133	Increased sensitivity to ionizing radiation	HP:0040281	ORPHA:2495
8314	BAP1	HP:0000488	Retinopathy	HP:0040283	ORPHA:618
8314	BAP1	HP:0000463	Anteverted nares	2/22	OMIM:619762
8314	BAP1	HP:0000470	Short neck	1/11	OMIM:619762
8314	BAP1	HP:0001762	Talipes equinovarus	1/11	OMIM:619762
8314	BAP1	HP:0006753	Neoplasm of the stomach	HP:0040283	ORPHA:618
8314	BAP1	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:39044
8314	BAP1	HP:0012505	Enlarged pituitary gland	HP:0040283	ORPHA:2495
8314	BAP1	HP:0000520	Proptosis	HP:0040284	ORPHA:2495
8314	BAP1	HP:0001824	Weight loss	HP:0040282	ORPHA:50251
8314	BAP1	HP:0001838	Rocker bottom foot	1/11	OMIM:619762
8314	BAP1	HP:0000508	Ptosis	1/11	OMIM:619762
8314	BAP1	HP:0030344	Decreased circulating luteinizing hormone level	HP:0040282	ORPHA:2495
8314	BAP1	HP:0030341	Decreased circulating follicle stimulating hormone concentration	HP:0040282	ORPHA:2495
8314	BAP1	HP:0000572	Visual loss	HP:0040281	ORPHA:39044
8314	BAP1	HP:0000541	Retinal detachment	HP:0040282	ORPHA:39044
8314	BAP1	HP:0000539	Abnormality of refraction	HP:0040283	ORPHA:39044
8318	CDC45	HP:0001177	Preaxial hand polydactyly	1/15	OMIM:617063
8318	CDC45	HP:0009939	Mandibular aplasia	HP:0040281	ORPHA:2554
8318	CDC45	HP:0009892	Anotia	HP:0040281	ORPHA:2554
8318	CDC45	HP:0008551	Microtia	13/15	OMIM:617063
8318	CDC45	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8318	CDC45	HP:0001293	Cranial nerve compression	-	OMIM:131300
8318	CDC45	HP:0001252	Hypotonia	2/7	OMIM:615777
8318	CDC45	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2554
8318	CDC45	HP:0001249	Intellectual disability	5/7	OMIM:615777
8318	CDC45	HP:0001263	Global developmental delay	3/12	OMIM:617063
8318	CDC45	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2554
8318	CDC45	HP:0001263	Global developmental delay	-	OMIM:615777
8318	CDC45	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:2554
8318	CDC45	HP:0100867	Duodenal stenosis	1/15	OMIM:617063
8318	CDC45	HP:0008665	Clitoral hypertrophy	1/8	OMIM:617063
8318	CDC45	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:2554
8318	CDC45	HP:0001217	Clubbing	1/15	OMIM:617063
8318	CDC45	HP:0002515	Waddling gait	54/102	OMIM:131300
8318	CDC45	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:2554
8318	CDC45	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:2554
8318	CDC45	HP:0000059	Hypoplastic labia majora	HP:0040282	ORPHA:2554
8318	CDC45	HP:0000076	Vesicoureteral reflux	1/15	OMIM:617063
8318	CDC45	HP:0000039	Epispadias	HP:0040283	ORPHA:2554
8318	CDC45	HP:0000054	Micropenis	1/7	OMIM:617063
8318	CDC45	HP:0001382	Joint hypermobility	1/15	OMIM:617063
8318	CDC45	HP:0001382	Joint hypermobility	-	OMIM:615777
8318	CDC45	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:2554
8318	CDC45	HP:0000047	Hypospadias	2/7	OMIM:617063
8318	CDC45	HP:0000047	Hypospadias	HP:0040283	ORPHA:2554
8318	CDC45	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:2554
8318	CDC45	HP:0001363	Craniosynostosis	14/15	OMIM:617063
8318	CDC45	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8318	CDC45	HP:0000028	Cryptorchidism	1/7	OMIM:617063
8318	CDC45	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2554
8318	CDC45	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8318	CDC45	HP:0001328	Specific learning disability	HP:0040283	ORPHA:2554
8318	CDC45	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8318	CDC45	HP:0001324	Muscle weakness	40/96	OMIM:131300
8318	CDC45	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8318	CDC45	HP:0000007	Autosomal recessive inheritance	-	OMIM:617063
8318	CDC45	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8318	CDC45	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8318	CDC45	HP:0002650	Scoliosis	1/15	OMIM:617063
8318	CDC45	HP:0002650	Scoliosis	12/14	OMIM:131300
8318	CDC45	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8318	CDC45	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8318	CDC45	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8318	CDC45	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8318	CDC45	HP:0000193	Bifid uvula	HP:0040283	ORPHA:2554
8318	CDC45	HP:0000160	Narrow mouth	HP:0040281	ORPHA:2554
8318	CDC45	HP:0000160	Narrow mouth	-	OMIM:617063
8318	CDC45	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:2554
8318	CDC45	HP:0000175	Cleft palate	2/15	OMIM:617063
8318	CDC45	HP:0000175	Cleft palate	2/7	OMIM:615777
8318	CDC45	HP:0000175	Cleft palate	HP:0040283	ORPHA:2554
8318	CDC45	HP:0002705	High, narrow palate	HP:0040282	ORPHA:2554
8318	CDC45	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2554
8318	CDC45	HP:0002025	Anal stenosis	1/15	OMIM:617063
8318	CDC45	HP:0002023	Anal atresia	1/15	OMIM:617063
8318	CDC45	HP:0004691	2-3 toe syndactyly	1/15	OMIM:617063
8318	CDC45	HP:0002089	Pulmonary hypoplasia	1/15	OMIM:617063
8318	CDC45	HP:0002098	Respiratory distress	HP:0040282	ORPHA:2554
8318	CDC45	HP:0002094	Dyspnea	HP:0040282	ORPHA:2554
8318	CDC45	HP:0003388	Easy fatigability	36/76	OMIM:131300
8318	CDC45	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8318	CDC45	HP:0011706	Second degree atrioventricular block	1/15	OMIM:617063
8318	CDC45	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2554
8318	CDC45	HP:0003422	Vertebral segmentation defect	1/15	OMIM:617063
8318	CDC45	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:2554
8318	CDC45	HP:0003577	Congenital onset	-	OMIM:617063
8318	CDC45	HP:0100783	Breast aplasia	1/15	OMIM:617063
8318	CDC45	HP:0100783	Breast aplasia	HP:0040283	ORPHA:2554
8318	CDC45	HP:0010709	2-4 finger cutaneous syndactyly	1/15	OMIM:617063
8318	CDC45	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:2554
8318	CDC45	HP:0003510	Severe short stature	7/7	OMIM:615777
8318	CDC45	HP:0003510	Severe short stature	HP:0040281	ORPHA:2554
8318	CDC45	HP:0007099	Chiari type I malformation	1/15	OMIM:617063
8318	CDC45	HP:0002315	Headache	-	OMIM:131300
8318	CDC45	HP:0004976	Knee dislocation	6/7	OMIM:615777
8318	CDC45	HP:0009803	Short phalanx of finger	-	OMIM:615777
8318	CDC45	HP:0009763	Limb pain	63/92	OMIM:131300
8318	CDC45	HP:0003621	Juvenile onset	-	OMIM:131300
8318	CDC45	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8318	CDC45	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:2554
8318	CDC45	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8318	CDC45	HP:6001056	Out-toeing	-	OMIM:131300
8318	CDC45	HP:0000651	Diplopia	-	OMIM:131300
8318	CDC45	HP:0001956	Truncal obesity	2/7	OMIM:615777
8318	CDC45	HP:0001903	Anemia	HP:0040283	OMIM:131300
8318	CDC45	HP:0010049	Short metacarpal	-	OMIM:615777
8318	CDC45	HP:0000678	Dental crowding	-	OMIM:615777
8318	CDC45	HP:0000670	Carious teeth	-	OMIM:131300
8318	CDC45	HP:0011304	Broad thumb	2/7	OMIM:615777
8318	CDC45	HP:0000668	Hypodontia	-	OMIM:615777
8318	CDC45	HP:0000664	Synophrys	-	OMIM:615777
8318	CDC45	HP:0004325	Decreased body weight	9/12	OMIM:617063
8318	CDC45	HP:0004322	Short stature	10/13	OMIM:617063
8318	CDC45	HP:0003083	Dislocated radial head	2/15	OMIM:617063
8318	CDC45	HP:0004396	Poor appetite	-	OMIM:131300
8318	CDC45	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8318	CDC45	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8318	CDC45	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:2554
8318	CDC45	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8318	CDC45	HP:0003026	Short long bone	7/7	OMIM:615777
8318	CDC45	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8318	CDC45	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:2554
8318	CDC45	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8318	CDC45	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8318	CDC45	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8318	CDC45	HP:0012722	Heart block	1/15	OMIM:617063
8318	CDC45	HP:0000750	Delayed speech and language development	-	OMIM:615777
8318	CDC45	HP:0011461	Fetal onset	7/7	OMIM:615777
8318	CDC45	HP:0000774	Narrow chest	2/7	OMIM:615777
8318	CDC45	HP:0004442	Sagittal craniosynostosis	2/15	OMIM:617063
8318	CDC45	HP:0003100	Slender long bone	HP:0040281	ORPHA:2554
8318	CDC45	HP:0034271	Copper beaten skull	1/15	OMIM:617063
8318	CDC45	HP:0000926	Platyspondyly	1/7	OMIM:615777
8318	CDC45	HP:0003180	Flat acetabular roof	-	OMIM:615777
8318	CDC45	HP:0004482	Relative macrocephaly	-	OMIM:615777
8318	CDC45	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8318	CDC45	HP:0030717	Meconium peritonitis	1/15	OMIM:617063
8318	CDC45	HP:0000823	Delayed puberty	-	OMIM:131300
8318	CDC45	HP:0000894	Short clavicles	-	OMIM:615777
8318	CDC45	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8318	CDC45	HP:0045074	Thin eyebrow	15/15	OMIM:617063
8318	CDC45	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8318	CDC45	HP:0000286	Epicanthus	1/7	OMIM:615777
8318	CDC45	HP:0000280	Coarse facial features	2/7	OMIM:615777
8318	CDC45	HP:0000278	Retrognathia	HP:0040281	ORPHA:2554
8318	CDC45	HP:0000260	Wide anterior fontanel	1/15	OMIM:617063
8318	CDC45	HP:0006443	Patellar aplasia	HP:0040282	ORPHA:2554
8318	CDC45	HP:0002827	Hip dislocation	3/7	OMIM:615777
8318	CDC45	HP:0012227	Urethral stricture	1/15	OMIM:617063
8318	CDC45	HP:0000253	Progressive microcephaly	12/13	OMIM:617063
8318	CDC45	HP:0000252	Microcephaly	HP:0040281	ORPHA:2554
8318	CDC45	HP:0000252	Microcephaly	-	OMIM:615777
8318	CDC45	HP:0002878	Respiratory failure	HP:0040282	ORPHA:2554
8318	CDC45	HP:0000218	High palate	3/15	OMIM:617063
8318	CDC45	HP:0001545	Anteriorly placed anus	4/15	OMIM:617063
8318	CDC45	HP:0002857	Genu valgum	-	OMIM:131300
8318	CDC45	HP:0001533	Slender build	-	OMIM:131300
8318	CDC45	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2554
8318	CDC45	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8318	CDC45	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2554
8318	CDC45	HP:0001510	Growth delay	-	OMIM:617063
8318	CDC45	HP:0001510	Growth delay	HP:0040281	ORPHA:2554
8318	CDC45	HP:0007807	Optic nerve compression	-	OMIM:131300
8318	CDC45	HP:0012368	Flat face	7/7	OMIM:615777
8318	CDC45	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8318	CDC45	HP:0006498	Aplasia/Hypoplasia of the patella	8/11	OMIM:617063
8318	CDC45	HP:0000365	Hearing impairment	1/15	OMIM:617063
8318	CDC45	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2554
8318	CDC45	HP:0000365	Hearing impairment	10/67	OMIM:131300
8318	CDC45	HP:0000356	Abnormality of the outer ear	HP:0040281	ORPHA:2554
8318	CDC45	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2554
8318	CDC45	HP:0000369	Low-set ears	2/15	OMIM:617063
8318	CDC45	HP:0000369	Low-set ears	HP:0040282	ORPHA:2554
8318	CDC45	HP:0001674	Complete atrioventricular canal defect	1/15	OMIM:617063
8318	CDC45	HP:0000343	Long philtrum	1/7	OMIM:615777
8318	CDC45	HP:0011001	Increased bone mineral density	-	OMIM:131300
8318	CDC45	HP:0000347	Micrognathia	HP:0040281	ORPHA:2554
8318	CDC45	HP:0002979	Bowing of the legs	1/15	OMIM:617063
8318	CDC45	HP:0000311	Round face	2/7	OMIM:615777
8318	CDC45	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:2554
8318	CDC45	HP:0001629	Ventricular septal defect	3/15	OMIM:617063
8318	CDC45	HP:0002970	Genu varum	-	OMIM:615777
8318	CDC45	HP:0001631	Atrial septal defect	2/15	OMIM:617063
8318	CDC45	HP:0000303	Mandibular prognathia	-	OMIM:131300
8318	CDC45	HP:0006660	Aplastic clavicle	HP:0040282	ORPHA:2554
8318	CDC45	HP:0000407	Sensorineural hearing impairment	1/15	OMIM:617063
8318	CDC45	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8318	CDC45	HP:0000486	Strabismus	1/15	OMIM:617063
8318	CDC45	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:2554
8318	CDC45	HP:0000470	Short neck	1/7	OMIM:615777
8318	CDC45	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8318	CDC45	HP:0001763	Pes planus	1/7	OMIM:615777
8318	CDC45	HP:0000453	Choanal atresia	1/15	OMIM:617063
8318	CDC45	HP:0000413	Atresia of the external auditory canal	HP:0040281	ORPHA:2554
8318	CDC45	HP:0011267	Microtia, third degree	HP:0040281	ORPHA:2554
8318	CDC45	HP:0001840	Metatarsus adductus	-	OMIM:615777
8318	CDC45	HP:0000520	Proptosis	2/4	OMIM:131300
8318	CDC45	HP:0000520	Proptosis	7/7	OMIM:615777
8318	CDC45	HP:0000520	Proptosis	1/15	OMIM:617063
8318	CDC45	HP:0000592	Blue sclerae	2/7	OMIM:615777
8318	CDC45	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8318	CDC45	HP:0012514	Lower limb pain	4/4	OMIM:131300
8318	CDC45	HP:0000545	Myopia	1/15	OMIM:617063
8320	EOMES	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:171703
8320	EOMES	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:171703
8320	EOMES	HP:0002719	Recurrent infections	HP:0040282	ORPHA:171703
8320	EOMES	HP:0002098	Respiratory distress	HP:0040282	ORPHA:171703
8320	EOMES	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:171703
8320	EOMES	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:171703
8320	EOMES	HP:0011451	Primary microcephaly	HP:0040282	ORPHA:171703
8322	FZD4	HP:0001147	Retinal exudate	3/12	OMIM:133780
8322	FZD4	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
8322	FZD4	HP:0001141	Severely reduced visual acuity	HP:0040283	ORPHA:891
8322	FZD4	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:90050
8322	FZD4	HP:0001104	Macular hypoplasia	HP:0040283	ORPHA:91495
8322	FZD4	HP:0001103	Abnormal macular morphology	HP:0040283	ORPHA:90050
8322	FZD4	HP:0009926	Epiphora	HP:0040283	ORPHA:91495
8322	FZD4	HP:0009917	Persistent pupillary membrane	HP:0040282	ORPHA:91495
8322	FZD4	HP:0001270	Motor delay	HP:0040283	ORPHA:891
8322	FZD4	HP:0100832	Vitreous floaters	8/12	OMIM:133780
8322	FZD4	HP:0100832	Vitreous floaters	HP:0040283	ORPHA:891
8322	FZD4	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:891
8322	FZD4	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
8322	FZD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
8322	FZD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:133780
8322	FZD4	HP:0001493	Falciform retinal fold	4/12	OMIM:133780
8322	FZD4	HP:0001493	Falciform retinal fold	HP:0040282	ORPHA:891
8322	FZD4	HP:0001489	Posterior vitreous detachment	-	OMIM:133780
8322	FZD4	HP:0007685	Peripheral retinal avascularization	14/14	OMIM:133780
8322	FZD4	HP:0007685	Peripheral retinal avascularization	HP:0040281	ORPHA:891
8322	FZD4	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
8322	FZD4	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
8322	FZD4	HP:0007663	Reduced visual acuity	12/14	OMIM:133780
8322	FZD4	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:90050
8322	FZD4	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:91495
8322	FZD4	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:891
8322	FZD4	HP:0500049	Retinopathy of prematurity	HP:0040281	ORPHA:90050
8322	FZD4	HP:0012109	Angle closure glaucoma	HP:0040282	ORPHA:91495
8322	FZD4	HP:0002757	Recurrent fractures	-	OMIM:133780
8322	FZD4	HP:0011885	Hemorrhage of the eye	HP:0040283	ORPHA:91495
8322	FZD4	HP:0003593	Infantile onset	1/2	OMIM:133780
8322	FZD4	HP:0003581	Adult onset	1/2	OMIM:133780
8322	FZD4	HP:0025007	Ectopic fovea	4/12	OMIM:133780
8322	FZD4	HP:0001004	Lymphedema	HP:0040283	ORPHA:891
8322	FZD4	HP:0003677	Slowly progressive	-	OMIM:133780
8322	FZD4	HP:0010766	Ectopic calcification	HP:0040284	ORPHA:91495
8322	FZD4	HP:0003621	Juvenile onset	8/19	OMIM:180100
8322	FZD4	HP:0030503	Macular telangiectasia	HP:0040283	ORPHA:891
8322	FZD4	HP:0000646	Amblyopia	HP:0040283	ORPHA:90050
8322	FZD4	HP:0000646	Amblyopia	HP:0040283	ORPHA:91495
8322	FZD4	HP:0000618	Blindness	-	OMIM:133780
8322	FZD4	HP:0000618	Blindness	HP:0040283	ORPHA:90050
8322	FZD4	HP:0000618	Blindness	HP:0040283	ORPHA:91495
8322	FZD4	HP:0000618	Blindness	HP:0040283	ORPHA:891
8322	FZD4	HP:0030490	Exudative vitreoretinopathy	1/2	OMIM:133780
8322	FZD4	HP:0030496	Macular exudate	HP:0040283	ORPHA:891
8322	FZD4	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:891
8322	FZD4	HP:0000662	Nyctalopia	26/28	OMIM:180100
8322	FZD4	HP:0000667	Phthisis bulbi	HP:0040283	ORPHA:91495
8322	FZD4	HP:0030666	Retinal neovascularization	0/2	OMIM:133780
8322	FZD4	HP:0030666	Retinal neovascularization	HP:0040282	ORPHA:891
8322	FZD4	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:891
8322	FZD4	HP:0100014	Epiretinal membrane	HP:0040283	ORPHA:891
8322	FZD4	HP:0012795	Abnormal optic disc morphology	HP:0040282	ORPHA:891
8322	FZD4	HP:0011463	Childhood onset	3/19	OMIM:180100
8322	FZD4	HP:0011462	Young adult onset	8/19	OMIM:180100
8322	FZD4	HP:0030744	Hyaloid vascular remnant and retrolental mass	HP:0040282	ORPHA:91495
8322	FZD4	HP:0030743	Glial remnants anterior to the optic disc	HP:0040282	ORPHA:91495
8322	FZD4	HP:0011530	Retinal hole	4/14	OMIM:133780
8322	FZD4	HP:0040049	Macular edema	HP:0040283	ORPHA:891
8322	FZD4	HP:0008052	Retinal fold	HP:0040283	ORPHA:91495
8322	FZD4	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:90050
8322	FZD4	HP:0007773	Vitreoretinopathy	HP:0040280	ORPHA:891
8322	FZD4	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
8322	FZD4	HP:0012230	Rhegmatogenous retinal detachment	HP:0040283	ORPHA:891
8322	FZD4	HP:0000252	Microcephaly	HP:0040283	ORPHA:891
8322	FZD4	HP:0001518	Small for gestational age	HP:0040281	ORPHA:90050
8322	FZD4	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
8322	FZD4	HP:0031526	Subretinal fluid	HP:0040282	ORPHA:891
8322	FZD4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:891
8322	FZD4	HP:0001622	Premature birth	HP:0040281	ORPHA:90050
8322	FZD4	HP:0007957	Corneal opacity	HP:0040281	ORPHA:91495
8322	FZD4	HP:0007917	Tractional retinal detachment	HP:0040282	ORPHA:891
8322	FZD4	HP:0007917	Tractional retinal detachment	HP:0040283	ORPHA:90050
8322	FZD4	HP:0007917	Tractional retinal detachment	HP:0040282	ORPHA:91495
8322	FZD4	HP:0007902	Vitreous hemorrhage	-	OMIM:133780
8322	FZD4	HP:0007902	Vitreous hemorrhage	HP:0040283	ORPHA:891
8322	FZD4	HP:0007902	Vitreous hemorrhage	HP:0040283	ORPHA:90050
8322	FZD4	HP:0007968	Remnants of the hyaloid vascular system	HP:0040280	ORPHA:91495
8322	FZD4	HP:0000486	Strabismus	HP:0040283	ORPHA:91495
8322	FZD4	HP:0000486	Strabismus	HP:0040283	ORPHA:90050
8322	FZD4	HP:0000482	Microcornea	HP:0040283	ORPHA:91495
8322	FZD4	HP:0000518	Cataract	HP:0040283	ORPHA:891
8322	FZD4	HP:0000518	Cataract	HP:0040283	ORPHA:90050
8322	FZD4	HP:0000518	Cataract	HP:0040281	ORPHA:91495
8322	FZD4	HP:0000519	Developmental cataract	HP:0040282	ORPHA:91495
8322	FZD4	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
8322	FZD4	HP:0000523	Subcapsular cataract	-	OMIM:133780
8322	FZD4	HP:0000501	Glaucoma	HP:0040283	ORPHA:90050
8322	FZD4	HP:0000575	Scotoma	5/18	OMIM:180100
8322	FZD4	HP:0000594	Shallow anterior chamber	HP:0040283	ORPHA:91495
8322	FZD4	HP:0000557	Buphthalmos	HP:0040283	ORPHA:91495
8322	FZD4	HP:0000555	Leukocoria	HP:0040281	ORPHA:91495
8322	FZD4	HP:0000568	Microphthalmia	HP:0040281	ORPHA:91495
8322	FZD4	HP:0000568	Microphthalmia	HP:0040283	ORPHA:891
8322	FZD4	HP:0000565	Esotropia	1/2	OMIM:133780
8322	FZD4	HP:0000541	Retinal detachment	6/16	OMIM:133780
8322	FZD4	HP:0000533	Chorioretinal atrophy	HP:0040283	ORPHA:891
8322	FZD4	HP:0000543	Optic disc pallor	1/1	OMIM:180100
8322	FZD4	HP:0000545	Myopia	-	OMIM:180100
8322	FZD4	HP:0000545	Myopia	HP:0040283	ORPHA:90050
8323	FZD6	HP:0000007	Autosomal recessive inheritance	-	OMIM:161050
8323	FZD6	HP:0002164	Nail dysplasia	3/3	OMIM:161050
8323	FZD6	HP:0003577	Congenital onset	3/3	OMIM:161050
8323	FZD6	HP:0003677	Slowly progressive	-	OMIM:161050
8323	FZD6	HP:0030804	Trachyonychia	-	OMIM:161050
8323	FZD6	HP:0001805	Onychogryphosis	HP:0040283	OMIM:161050
8323	FZD6	HP:0001806	Onycholysis	3/3	OMIM:161050
8323	FZD6	HP:0012542	Onychauxis	3/3	OMIM:161050
8328	GFI1B	HP:0000007	Autosomal recessive inheritance	-	OMIM:187900
8328	GFI1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:187900
8328	GFI1B	HP:0003337	Reduced prothrombin consumption	-	OMIM:187900
8328	GFI1B	HP:0008148	Impaired epinephrine-induced platelet aggregation	2/2	OMIM:187900
8328	GFI1B	HP:0011890	Prolonged bleeding following procedure	8/8	OMIM:187900
8328	GFI1B	HP:0003593	Infantile onset	-	OMIM:187900
8328	GFI1B	HP:0002239	Gastrointestinal hemorrhage	-	OMIM:187900
8328	GFI1B	HP:0011974	Myelofibrosis	1/1	OMIM:187900
8328	GFI1B	HP:0008320	Impaired collagen-induced platelet aggregation	3/3	OMIM:187900
8328	GFI1B	HP:0031965	Increased RBC distribution width	8/8	OMIM:187900
8328	GFI1B	HP:0003010	Prolonged bleeding time	4/4	OMIM:187900
8328	GFI1B	HP:0000978	Bruising susceptibility	8/8	OMIM:187900
8328	GFI1B	HP:0000967	Petechiae	-	OMIM:187900
8328	GFI1B	HP:0040185	Macrothrombocytopenia	14/14	OMIM:187900
8328	GFI1B	HP:0031364	Ecchymosis	-	OMIM:187900
8328	GFI1B	HP:0000421	Epistaxis	8/8	OMIM:187900
8328	GFI1B	HP:0001892	Abnormal bleeding	6/6	OMIM:187900
8328	GFI1B	HP:0012526	Absence of alpha granules	12/12	OMIM:187900
8328	GFI1B	HP:0001873	Thrombocytopenia	6/6	OMIM:187900
8363	H4C11	HP:0001252	Hypotonia	1/1	OMIM:619759
8363	H4C11	HP:0001249	Intellectual disability	1/1	OMIM:619759
8363	H4C11	HP:0001263	Global developmental delay	1/1	OMIM:619759
8363	H4C11	HP:0002553	Highly arched eyebrow	1/1	OMIM:619759
8363	H4C11	HP:0000047	Hypospadias	1/1	OMIM:619759
8363	H4C11	HP:0001344	Absent speech	1/1	OMIM:619759
8363	H4C11	HP:0000006	Autosomal dominant inheritance	-	OMIM:619759
8363	H4C11	HP:0000154	Wide mouth	1/1	OMIM:619759
8363	H4C11	HP:0002714	Downturned corners of mouth	1/1	OMIM:619759
8363	H4C11	HP:0003577	Congenital onset	1/1	OMIM:619759
8363	H4C11	HP:0000629	Periorbital fullness	1/1	OMIM:619759
8363	H4C11	HP:0000657	Oculomotor apraxia	1/1	OMIM:619759
8363	H4C11	HP:0004322	Short stature	1/1	OMIM:619759
8363	H4C11	HP:0000750	Delayed speech and language development	1/1	OMIM:619759
8363	H4C11	HP:0000729	Autistic behavior	1/1	OMIM:619759
8363	H4C11	HP:0003202	Skeletal muscle atrophy	1/1	OMIM:619759
8363	H4C11	HP:0001510	Growth delay	1/1	OMIM:619759
8363	H4C11	HP:0000316	Hypertelorism	1/1	OMIM:619759
8363	H4C11	HP:0000322	Short philtrum	1/1	OMIM:619759
8363	H4C11	HP:0005280	Depressed nasal bridge	1/1	OMIM:619759
8363	H4C11	HP:0001763	Pes planus	1/1	OMIM:619759
8363	H4C11	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:619759
8363	H4C11	HP:0000565	Esotropia	1/1	OMIM:619759
8364	H4C3	HP:0001250	Seizure	1/3	OMIM:619758
8364	H4C3	HP:0001252	Hypotonia	2/3	OMIM:619758
8364	H4C3	HP:0001249	Intellectual disability	2/2	OMIM:619758
8364	H4C3	HP:0000089	Renal hypoplasia	1/3	OMIM:619758
8364	H4C3	HP:0001399	Hepatic failure	1/3	OMIM:619758
8364	H4C3	HP:0000006	Autosomal dominant inheritance	-	OMIM:619758
8364	H4C3	HP:0012165	Oligodactyly	1/3	OMIM:619758
8364	H4C3	HP:0000154	Wide mouth	2/2	OMIM:619758
8364	H4C3	HP:0040262	Glue ear	1/3	OMIM:619758
8364	H4C3	HP:0003577	Congenital onset	3/3	OMIM:619758
8364	H4C3	HP:0002205	Recurrent respiratory infections	1/3	OMIM:619758
8364	H4C3	HP:0011968	Feeding difficulties	1/3	OMIM:619758
8364	H4C3	HP:0020045	Esodeviation	1/3	OMIM:619758
8364	H4C3	HP:0004209	Clinodactyly of the 5th finger	1/3	OMIM:619758
8364	H4C3	HP:0005564	Absence of renal corticomedullary differentiation	1/3	OMIM:619758
8364	H4C3	HP:0000646	Amblyopia	1/3	OMIM:619758
8364	H4C3	HP:0000629	Periorbital fullness	1/3	OMIM:619758
8364	H4C3	HP:0034185	Median pseudocleft lip	1/3	OMIM:619758
8364	H4C3	HP:0012736	Profound global developmental delay	1/3	OMIM:619758
8364	H4C3	HP:0000709	Psychosis	1/3	OMIM:619758
8364	H4C3	HP:0000822	Hypertension	1/3	OMIM:619758
8364	H4C3	HP:0000965	Cutis marmorata	1/3	OMIM:619758
8364	H4C3	HP:0000278	Retrognathia	1/3	OMIM:619758
8364	H4C3	HP:0000252	Microcephaly	3/3	OMIM:619758
8364	H4C3	HP:0001558	Decreased fetal movement	1/3	OMIM:619758
8364	H4C3	HP:0001537	Umbilical hernia	1/3	OMIM:619758
8364	H4C3	HP:0001510	Growth delay	3/3	OMIM:619758
8364	H4C3	HP:0000384	Preauricular skin tag	1/3	OMIM:619758
8364	H4C3	HP:0000369	Low-set ears	1/3	OMIM:619758
8364	H4C3	HP:0001684	Secundum atrial septal defect	1/3	OMIM:619758
8364	H4C3	HP:0000316	Hypertelorism	2/3	OMIM:619758
8364	H4C3	HP:0031624	Moderate myopia	1/3	OMIM:619758
8364	H4C3	HP:0000403	Recurrent otitis media	1/3	OMIM:619758
8364	H4C3	HP:0000486	Strabismus	1/3	OMIM:619758
8364	H4C3	HP:0000455	Broad nasal tip	2/3	OMIM:619758
8364	H4C3	HP:0000456	Bifid nasal tip	3/3	OMIM:619758
8364	H4C3	HP:0001773	Short foot	1/3	OMIM:619758
8364	H4C3	HP:0000508	Ptosis	1/3	OMIM:619758
8364	H4C3	HP:0000582	Upslanted palpebral fissure	3/3	OMIM:619758
8367	H4C5	HP:0001182	Tapered finger	1/17	OMIM:619950
8367	H4C5	HP:0009928	Thick nasal alae	1/17	OMIM:619950
8367	H4C5	HP:0010877	Monocular strabismus	1/17	OMIM:619950
8367	H4C5	HP:0009890	High anterior hairline	1/17	OMIM:619950
8367	H4C5	HP:0003763	Bruxism	2/17	OMIM:619950
8367	H4C5	HP:0003764	Nevus	1/17	OMIM:619950
8367	H4C5	HP:0003758	Reduced subcutaneous adipose tissue	1/17	OMIM:619950
8367	H4C5	HP:0100807	Long fingers	1/17	OMIM:619950
8367	H4C5	HP:0001270	Motor delay	3/17	OMIM:619950
8367	H4C5	HP:0001250	Seizure	2/17	OMIM:619950
8367	H4C5	HP:0001252	Hypotonia	2/17	OMIM:619950
8367	H4C5	HP:0001251	Ataxia	3/17	OMIM:619950
8367	H4C5	HP:0001249	Intellectual disability	5/5	OMIM:619950
8367	H4C5	HP:0001264	Spastic diplegia	1/17	OMIM:619950
8367	H4C5	HP:0001263	Global developmental delay	17/17	OMIM:619950
8367	H4C5	HP:0001257	Spasticity	1/17	OMIM:619950
8367	H4C5	HP:0007392	Excessive wrinkled skin	1/17	OMIM:619950
8367	H4C5	HP:0007359	Focal-onset seizure	1/17	OMIM:619950
8367	H4C5	HP:0001212	Prominent fingertip pads	1/17	OMIM:619950
8367	H4C5	HP:0002510	Spastic tetraplegia	1/17	OMIM:619950
8367	H4C5	HP:0002509	Limb hypertonia	1/17	OMIM:619950
8367	H4C5	HP:0001382	Joint hypermobility	1/17	OMIM:619950
8367	H4C5	HP:0000053	Macroorchidism	1/17	OMIM:619950
8367	H4C5	HP:0001348	Brisk reflexes	1/17	OMIM:619950
8367	H4C5	HP:0001347	Hyperreflexia	1/17	OMIM:619950
8367	H4C5	HP:0007495	Prematurely aged appearance	1/17	OMIM:619950
8367	H4C5	HP:0001332	Dystonia	1/17	OMIM:619950
8367	H4C5	HP:0000006	Autosomal dominant inheritance	-	OMIM:619950
8367	H4C5	HP:0002650	Scoliosis	2/17	OMIM:619950
8367	H4C5	HP:0000185	Cleft soft palate	1/17	OMIM:619950
8367	H4C5	HP:0012171	Stereotypical hand wringing	2/17	OMIM:619950
8367	H4C5	HP:0000194	Open mouth	1/17	OMIM:619950
8367	H4C5	HP:0000175	Cleft palate	1/17	OMIM:619950
8367	H4C5	HP:0000154	Wide mouth	4/17	OMIM:619950
8367	H4C5	HP:0008947	Floppy infant	1/17	OMIM:619950
8367	H4C5	HP:0008936	Axial hypotonia	2/17	OMIM:619950
8367	H4C5	HP:0002705	High, narrow palate	1/17	OMIM:619950
8367	H4C5	HP:0500011	Moon facies	1/17	OMIM:619950
8367	H4C5	HP:0002719	Recurrent infections	2/17	OMIM:619950
8367	H4C5	HP:0002714	Downturned corners of mouth	1/17	OMIM:619950
8367	H4C5	HP:0002020	Gastroesophageal reflux	2/17	OMIM:619950
8367	H4C5	HP:0002002	Deep philtrum	1/17	OMIM:619950
8367	H4C5	HP:0003307	Hyperlordosis	1/17	OMIM:619950
8367	H4C5	HP:0002061	Lower limb spasticity	1/17	OMIM:619950
8367	H4C5	HP:0002057	Prominent glabella	1/17	OMIM:619950
8367	H4C5	HP:0002188	Delayed CNS myelination	1/17	OMIM:619950
8367	H4C5	HP:0003593	Infantile onset	-	OMIM:619950
8367	H4C5	HP:0100710	Impulsivity	1/17	OMIM:619950
8367	H4C5	HP:0002212	Curly hair	1/17	OMIM:619950
8367	H4C5	HP:0002205	Recurrent respiratory infections	1/17	OMIM:619950
8367	H4C5	HP:0007018	Attention deficit hyperactivity disorder	1/17	OMIM:619950
8367	H4C5	HP:0011968	Feeding difficulties	2/17	OMIM:619950
8367	H4C5	HP:0002360	Sleep abnormality	2/17	OMIM:619950
8367	H4C5	HP:0001028	Hemangioma	1/17	OMIM:619950
8367	H4C5	HP:0010761	Broad columella	1/17	OMIM:619950
8367	H4C5	HP:0000637	Long palpebral fissure	2/17	OMIM:619950
8367	H4C5	HP:0000629	Periorbital fullness	1/17	OMIM:619950
8367	H4C5	HP:0001954	Recurrent fever	1/17	OMIM:619950
8367	H4C5	HP:0011344	Severe global developmental delay	1/17	OMIM:619950
8367	H4C5	HP:0000691	Microdontia	1/17	OMIM:619950
8367	H4C5	HP:0000687	Widely spaced teeth	1/17	OMIM:619950
8367	H4C5	HP:0004322	Short stature	1/17	OMIM:619950
8367	H4C5	HP:0012745	Short palpebral fissure	1/17	OMIM:619950
8367	H4C5	HP:0100021	Cerebral palsy	1/17	OMIM:619950
8367	H4C5	HP:0000750	Delayed speech and language development	5/17	OMIM:619950
8367	H4C5	HP:0000742	Self-mutilation	1/17	OMIM:619950
8367	H4C5	HP:0000717	Autism	3/17	OMIM:619950
8367	H4C5	HP:0000713	Agitation	1/17	OMIM:619950
8367	H4C5	HP:0000826	Precocious puberty	2/17	OMIM:619950
8367	H4C5	HP:0010296	Ankyloglossia	1/17	OMIM:619950
8367	H4C5	HP:0000974	Hyperextensible skin	1/17	OMIM:619950
8367	H4C5	HP:0000957	Cafe-au-lait spot	1/17	OMIM:619950
8367	H4C5	HP:0000960	Sacral dimple	1/17	OMIM:619950
8367	H4C5	HP:0008081	Pes valgus	1/17	OMIM:619950
8367	H4C5	HP:0000286	Epicanthus	2/17	OMIM:619950
8367	H4C5	HP:0000280	Coarse facial features	1/17	OMIM:619950
8367	H4C5	HP:0000278	Retrognathia	1/17	OMIM:619950
8367	H4C5	HP:0025573	Mild myopia	1/17	OMIM:619950
8367	H4C5	HP:0000294	Low anterior hairline	1/17	OMIM:619950
8367	H4C5	HP:0000252	Microcephaly	1/17	OMIM:619950
8367	H4C5	HP:0000248	Brachycephaly	2/17	OMIM:619950
8367	H4C5	HP:0000219	Thin upper lip vermilion	2/17	OMIM:619950
8367	H4C5	HP:0002870	Obstructive sleep apnea	1/17	OMIM:619950
8367	H4C5	HP:0001508	Failure to thrive	1/17	OMIM:619950
8367	H4C5	HP:0030051	Tip-toe gait	1/17	OMIM:619950
8367	H4C5	HP:0001510	Growth delay	1/17	OMIM:619950
8367	H4C5	HP:0000384	Preauricular skin tag	1/17	OMIM:619950
8367	H4C5	HP:0000391	Thickened helices	1/17	OMIM:619950
8367	H4C5	HP:0005216	Impaired mastication	1/17	OMIM:619950
8367	H4C5	HP:0000365	Hearing impairment	1/17	OMIM:619950
8367	H4C5	HP:0000369	Low-set ears	2/17	OMIM:619950
8367	H4C5	HP:0000319	Smooth philtrum	1/17	OMIM:619950
8367	H4C5	HP:0000322	Short philtrum	1/17	OMIM:619950
8367	H4C5	HP:0000325	Triangular face	1/17	OMIM:619950
8367	H4C5	HP:0000303	Mandibular prognathia	1/17	OMIM:619950
8367	H4C5	HP:0031624	Moderate myopia	2/17	OMIM:619950
8367	H4C5	HP:0005338	Sparse lateral eyebrow	1/17	OMIM:619950
8367	H4C5	HP:0000403	Recurrent otitis media	2/17	OMIM:619950
8367	H4C5	HP:0000486	Strabismus	2/17	OMIM:619950
8367	H4C5	HP:0012471	Thick vermilion border	1/17	OMIM:619950
8367	H4C5	HP:0012472	Eclabion	1/17	OMIM:619950
8367	H4C5	HP:0000494	Downslanted palpebral fissures	1/17	OMIM:619950
8367	H4C5	HP:0000490	Deeply set eye	2/17	OMIM:619950
8367	H4C5	HP:0000463	Anteverted nares	1/17	OMIM:619950
8367	H4C5	HP:0012450	Chronic constipation	1/17	OMIM:619950
8367	H4C5	HP:0000455	Broad nasal tip	2/17	OMIM:619950
8367	H4C5	HP:0000470	Short neck	1/17	OMIM:619950
8367	H4C5	HP:0001763	Pes planus	2/17	OMIM:619950
8367	H4C5	HP:0000448	Prominent nose	2/17	OMIM:619950
8367	H4C5	HP:0000414	Bulbous nose	1/17	OMIM:619950
8367	H4C5	HP:0000431	Wide nasal bridge	2/17	OMIM:619950
8367	H4C5	HP:0031717	Alternating exotropia	1/17	OMIM:619950
8367	H4C5	HP:0000527	Long eyelashes	1/17	OMIM:619950
8367	H4C5	HP:0012583	Unilateral renal hypoplasia	1/17	OMIM:619950
8367	H4C5	HP:0000582	Upslanted palpebral fissure	1/17	OMIM:619950
8367	H4C5	HP:0011228	Horizontal eyebrow	1/17	OMIM:619950
8367	H4C5	HP:0000574	Thick eyebrow	1/17	OMIM:619950
8367	H4C5	HP:0000540	Hypermetropia	1/17	OMIM:619950
8379	MAD1L1	HP:0003764	Nevus	1/1	OMIM:620189
8379	MAD1L1	HP:0001263	Global developmental delay	1/1	OMIM:620189
8379	MAD1L1	HP:0012032	Lipoma	1/1	OMIM:620189
8379	MAD1L1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620189
8379	MAD1L1	HP:0000006	Autosomal dominant inheritance	-	OMIM:176807
8379	MAD1L1	HP:0012125	Prostate cancer	-	OMIM:176807
8379	MAD1L1	HP:0001442	Typified by somatic mosaicism	-	OMIM:176807
8379	MAD1L1	HP:0005987	Multinodular goiter	1/1	OMIM:620189
8379	MAD1L1	HP:0011800	Midface retrusion	1/1	OMIM:620189
8379	MAD1L1	HP:0040276	Adenocarcinoma of the colon	1/1	OMIM:620189
8379	MAD1L1	HP:0000639	Nystagmus	1/1	OMIM:620189
8379	MAD1L1	HP:0011463	Childhood onset	1/1	OMIM:620189
8379	MAD1L1	HP:0005701	Multiple enchondromatosis	1/1	OMIM:620189
8379	MAD1L1	HP:0000962	Hyperkeratosis	1/1	OMIM:620189
8379	MAD1L1	HP:0030079	Cervix cancer	1/1	OMIM:620189
8379	MAD1L1	HP:0000252	Microcephaly	1/1	OMIM:620189
8379	MAD1L1	HP:0000358	Posteriorly rotated ears	1/1	OMIM:620189
8379	MAD1L1	HP:0000341	Narrow forehead	1/1	OMIM:620189
8379	MAD1L1	HP:0000347	Micrognathia	1/1	OMIM:620189
8379	MAD1L1	HP:0000490	Deeply set eye	1/1	OMIM:620189
8379	MAD1L1	HP:0001765	Hammertoe	1/1	OMIM:620189
8379	MAD1L1	HP:0001761	Pes cavus	1/1	OMIM:620189
8379	MAD1L1	HP:0006743	Embryonal rhabdomyosarcoma	1/1	OMIM:620189
8379	MAD1L1	HP:0030434	Pilomatrixoma	1/1	OMIM:620189
8382	NME5	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
8382	NME5	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
8382	NME5	HP:0001217	Clubbing	HP:0040283	ORPHA:244
8382	NME5	HP:0000007	Autosomal recessive inheritance	-	OMIM:620032
8382	NME5	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
8382	NME5	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
8382	NME5	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
8382	NME5	HP:0031245	Productive cough	HP:0040282	ORPHA:244
8382	NME5	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
8382	NME5	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
8382	NME5	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
8382	NME5	HP:0002110	Bronchiectasis	1/1	OMIM:620032
8382	NME5	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
8382	NME5	HP:0008222	Female infertility	HP:0040283	ORPHA:244
8382	NME5	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
8382	NME5	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
8382	NME5	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
8382	NME5	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
8382	NME5	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
8382	NME5	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
8382	NME5	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
8382	NME5	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
8382	NME5	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
8382	NME5	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
8382	NME5	HP:0030828	Wheezing	HP:0040283	ORPHA:244
8382	NME5	HP:0003251	Male infertility	HP:0040282	ORPHA:244
8382	NME5	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
8382	NME5	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
8382	NME5	HP:0012264	Absent central microtubular pair morphology of respiratory motile cilia	1/1	OMIM:620032
8382	NME5	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
8382	NME5	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
8382	NME5	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
8382	NME5	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
8382	NME5	HP:0006532	Recurrent pneumonia	1/1	OMIM:620032
8382	NME5	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
8382	NME5	HP:0001696	Situs inversus totalis	0/1	OMIM:620032
8382	NME5	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
8382	NME5	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
8382	NME5	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
8382	NME5	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
8382	NME5	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
8382	NME5	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
8382	NME5	HP:0000403	Recurrent otitis media	1/1	OMIM:620032
8382	NME5	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
8382	NME5	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
8382	NME5	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
8382	NME5	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
8382	NME5	HP:0011108	Recurrent sinusitis	1/1	OMIM:620032
8382	NME5	HP:0001746	Asplenia	HP:0040284	ORPHA:244
8382	NME5	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
8382	NME5	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
8382	NME5	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
8382	NME5	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
8382	NME5	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
8398	PLA2G6	HP:0002483	Bulbar signs	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0002454	Eye of the tiger anomaly of globus pallidus	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0007256	Abnormal pyramidal sign	-	OMIM:256600
8398	PLA2G6	HP:0025262	Stiff hip	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0001290	Generalized hypotonia	-	OMIM:256600
8398	PLA2G6	HP:0001276	Hypertonia	-	OMIM:610217
8398	PLA2G6	HP:0001272	Cerebellar atrophy	-	OMIM:610217
8398	PLA2G6	HP:0001272	Cerebellar atrophy	HP:0040281	ORPHA:35069
8398	PLA2G6	HP:0001272	Cerebellar atrophy	1/1	OMIM:256600
8398	PLA2G6	HP:0001269	Hemiparesis	1/2	OMIM:612953
8398	PLA2G6	HP:0001268	Mental deterioration	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0001268	Mental deterioration	2/2	OMIM:612953
8398	PLA2G6	HP:0001268	Mental deterioration	-	OMIM:610217
8398	PLA2G6	HP:0001288	Gait disturbance	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0001285	Spastic tetraparesis	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0001284	Areflexia	-	OMIM:256600
8398	PLA2G6	HP:0001250	Seizure	HP:0040283	ORPHA:199351
8398	PLA2G6	HP:0001250	Seizure	HP:0040284	ORPHA:35069
8398	PLA2G6	HP:0001250	Seizure	-	OMIM:610217
8398	PLA2G6	HP:0001250	Seizure	-	OMIM:256600
8398	PLA2G6	HP:0001252	Hypotonia	-	OMIM:256600
8398	PLA2G6	HP:0001251	Ataxia	4/6	OMIM:256600
8398	PLA2G6	HP:0001251	Ataxia	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0001249	Intellectual disability	-	OMIM:256600
8398	PLA2G6	HP:0001260	Dysarthria	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0001260	Dysarthria	1/2	OMIM:612953
8398	PLA2G6	HP:0001260	Dysarthria	-	OMIM:610217
8398	PLA2G6	HP:0001260	Dysarthria	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0001263	Global developmental delay	HP:0040283	ORPHA:199351
8398	PLA2G6	HP:0001263	Global developmental delay	-	OMIM:256600
8398	PLA2G6	HP:0001257	Spasticity	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0001257	Spasticity	1/2	OMIM:612953
8398	PLA2G6	HP:0001257	Spasticity	-	OMIM:610217
8398	PLA2G6	HP:0001257	Spasticity	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0007351	Upper limb postural tremor	1/2	OMIM:612953
8398	PLA2G6	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0002530	Axial dystonia	1/2	OMIM:612953
8398	PLA2G6	HP:0002529	Neuronal loss in central nervous system	-	OMIM:256600
8398	PLA2G6	HP:0002510	Spastic tetraplegia	-	OMIM:256600
8398	PLA2G6	HP:0002505	Loss of ambulation	1/3	OMIM:612953
8398	PLA2G6	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0025387	Pill-rolling tremor	1/3	OMIM:612953
8398	PLA2G6	HP:0012043	Pendular nystagmus	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0001371	Flexion contracture	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0025331	Upgaze palsy	HP:0040284	ORPHA:35069
8398	PLA2G6	HP:0000017	Nocturia	1/3	OMIM:612953
8398	PLA2G6	HP:0001348	Brisk reflexes	1/3	OMIM:612953
8398	PLA2G6	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0001347	Hyperreflexia	1/2	OMIM:612953
8398	PLA2G6	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0001347	Hyperreflexia	-	OMIM:256600
8398	PLA2G6	HP:0001332	Dystonia	HP:0040283	ORPHA:199351
8398	PLA2G6	HP:0001332	Dystonia	3/3	OMIM:612953
8398	PLA2G6	HP:0001332	Dystonia	-	OMIM:610217
8398	PLA2G6	HP:0001332	Dystonia	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0000007	Autosomal recessive inheritance	-	OMIM:612953
8398	PLA2G6	HP:0000007	Autosomal recessive inheritance	-	OMIM:610217
8398	PLA2G6	HP:0000007	Autosomal recessive inheritance	-	OMIM:256600
8398	PLA2G6	HP:0001337	Tremor	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0001337	Tremor	2/2	OMIM:612953
8398	PLA2G6	HP:0001336	Myoclonus	HP:0040283	ORPHA:199351
8398	PLA2G6	HP:0001310	Dysmetria	-	OMIM:610217
8398	PLA2G6	HP:0001300	Parkinsonism	3/3	OMIM:612953
8398	PLA2G6	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0002019	Constipation	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0002015	Dysphagia	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0002015	Dysphagia	-	OMIM:610217
8398	PLA2G6	HP:0002007	Frontal bossing	-	OMIM:256600
8398	PLA2G6	HP:0005968	Temperature instability	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0003324	Generalized muscle weakness	-	OMIM:256600
8398	PLA2G6	HP:0005949	Apneic episodes in infancy	HP:0040284	ORPHA:35069
8398	PLA2G6	HP:0002080	Intention tremor	-	OMIM:610217
8398	PLA2G6	HP:0002067	Bradykinesia	3/3	OMIM:612953
8398	PLA2G6	HP:0002067	Bradykinesia	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0002067	Bradykinesia	-	OMIM:610217
8398	PLA2G6	HP:0002066	Gait ataxia	-	OMIM:610217
8398	PLA2G6	HP:0002063	Rigidity	1/2	OMIM:612953
8398	PLA2G6	HP:0002063	Rigidity	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0002062	Abnormal pyramidal tract morphology	-	OMIM:256600
8398	PLA2G6	HP:0002075	Dysdiadochokinesis	-	OMIM:610217
8398	PLA2G6	HP:0002072	Chorea	-	OMIM:610217
8398	PLA2G6	HP:0002059	Cerebral atrophy	-	OMIM:610217
8398	PLA2G6	HP:0002059	Cerebral atrophy	1/1	OMIM:256600
8398	PLA2G6	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0002145	Frontotemporal dementia	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0002145	Frontotemporal dementia	-	OMIM:612953
8398	PLA2G6	HP:0003487	Babinski sign	-	OMIM:610217
8398	PLA2G6	HP:0003444	EMG: chronic denervation signs	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0003444	EMG: chronic denervation signs	2/6	OMIM:256600
8398	PLA2G6	HP:0003405	Diffuse axonal swelling	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0002185	Neurofibrillary tangles	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0002185	Neurofibrillary tangles	-	OMIM:610217
8398	PLA2G6	HP:0002180	Neurodegeneration	-	OMIM:256600
8398	PLA2G6	HP:0002180	Neurodegeneration	-	OMIM:610217
8398	PLA2G6	HP:0002191	Progressive spasticity	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0002171	Gliosis	1/1	OMIM:256600
8398	PLA2G6	HP:0002172	Postural instability	1/2	OMIM:612953
8398	PLA2G6	HP:0002172	Postural instability	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0010545	Downbeat nystagmus	HP:0040284	ORPHA:35069
8398	PLA2G6	HP:0010522	Dyslexia	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0100710	Impulsivity	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0100710	Impulsivity	-	OMIM:610217
8398	PLA2G6	HP:0002283	Global brain atrophy	1/2	OMIM:612953
8398	PLA2G6	HP:0011999	Paranoia	HP:0040283	ORPHA:199351
8398	PLA2G6	HP:0011968	Feeding difficulties	-	OMIM:610217
8398	PLA2G6	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0007058	Generalized cerebral atrophy/hypoplasia	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0002361	Psychomotor deterioration	HP:0040281	ORPHA:35069
8398	PLA2G6	HP:0002378	Hand tremor	1/2	OMIM:612953
8398	PLA2G6	HP:0002376	Developmental regression	HP:0040281	ORPHA:35069
8398	PLA2G6	HP:0002376	Developmental regression	-	OMIM:256600
8398	PLA2G6	HP:0003676	Progressive	-	OMIM:610217
8398	PLA2G6	HP:0003678	Rapidly progressive	-	OMIM:612953
8398	PLA2G6	HP:0002322	Resting tremor	1/2	OMIM:612953
8398	PLA2G6	HP:0002317	Unsteady gait	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0002317	Unsteady gait	-	OMIM:256600
8398	PLA2G6	HP:0025097	Eyelid myoclonus	1/3	OMIM:612953
8398	PLA2G6	HP:0100660	Dyskinesia	2/2	OMIM:612953
8398	PLA2G6	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0007153	Progressive extrapyramidal movement disorder	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0002312	Clumsiness	1/2	OMIM:612953
8398	PLA2G6	HP:0002312	Clumsiness	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0002307	Drooling	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0003621	Juvenile onset	1/3	OMIM:612953
8398	PLA2G6	HP:0031833	Hypometric upward saccades	1/3	OMIM:612953
8398	PLA2G6	HP:0006892	Frontotemporal cerebral atrophy	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0006892	Frontotemporal cerebral atrophy	-	OMIM:612953
8398	PLA2G6	HP:0000639	Nystagmus	-	OMIM:610217
8398	PLA2G6	HP:0000639	Nystagmus	-	OMIM:256600
8398	PLA2G6	HP:0000639	Nystagmus	1/3	OMIM:612953
8398	PLA2G6	HP:0000639	Nystagmus	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0000649	Abnormality of visual evoked potentials	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0000649	Abnormality of visual evoked potentials	-	OMIM:256600
8398	PLA2G6	HP:0000648	Optic atrophy	-	OMIM:610217
8398	PLA2G6	HP:0000648	Optic atrophy	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0000648	Optic atrophy	4/6	OMIM:256600
8398	PLA2G6	HP:0000618	Blindness	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0000605	Supranuclear gaze palsy	HP:0040283	ORPHA:199351
8398	PLA2G6	HP:0012698	Cerebellar gliosis	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0012675	Iron accumulation in brain	7/7	OMIM:256600
8398	PLA2G6	HP:0012675	Iron accumulation in brain	HP:0040283	ORPHA:199351
8398	PLA2G6	HP:0012675	Iron accumulation in brain	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0000658	Eyelid apraxia	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0000658	Eyelid apraxia	1/3	OMIM:612953
8398	PLA2G6	HP:0004373	Focal dystonia	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0000752	Hyperactivity	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0000752	Hyperactivity	-	OMIM:610217
8398	PLA2G6	HP:0000751	Personality changes	HP:0040283	ORPHA:199351
8398	PLA2G6	HP:0000751	Personality changes	1/2	OMIM:612953
8398	PLA2G6	HP:0000762	Decreased nerve conduction velocity	5/6	OMIM:256600
8398	PLA2G6	HP:0000736	Short attention span	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0000736	Short attention span	-	OMIM:610217
8398	PLA2G6	HP:0000750	Delayed speech and language development	-	OMIM:610217
8398	PLA2G6	HP:0000750	Delayed speech and language development	3/6	OMIM:256600
8398	PLA2G6	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0000746	Delusion	HP:0040283	ORPHA:199351
8398	PLA2G6	HP:0000716	Depression	HP:0040283	ORPHA:199351
8398	PLA2G6	HP:0000716	Depression	1/2	OMIM:612953
8398	PLA2G6	HP:0000718	Aggressive behavior	1/2	OMIM:612953
8398	PLA2G6	HP:0000712	Emotional lability	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0000712	Emotional lability	-	OMIM:610217
8398	PLA2G6	HP:0000729	Autistic behavior	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0000708	Atypical behavior	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0011468	Facial tics	1/3	OMIM:612953
8398	PLA2G6	HP:0011463	Childhood onset	-	OMIM:610217
8398	PLA2G6	HP:0011463	Childhood onset	6/6	OMIM:256600
8398	PLA2G6	HP:0011462	Young adult onset	2/3	OMIM:612953
8398	PLA2G6	HP:0011448	Ankle clonus	2/3	OMIM:612953
8398	PLA2G6	HP:0012760	Reduced social responsiveness	2/6	OMIM:256600
8398	PLA2G6	HP:0003196	Short nose	-	OMIM:256600
8398	PLA2G6	HP:0100315	Lewy bodies	-	OMIM:610217
8398	PLA2G6	HP:0003134	Abnormality of peripheral nerve conduction	HP:0040282	ORPHA:35069
8398	PLA2G6	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0003236	Elevated circulating creatine kinase concentration	1/2	OMIM:612953
8398	PLA2G6	HP:0030842	Choking episodes	HP:0040284	ORPHA:35069
8398	PLA2G6	HP:0007772	Impaired smooth pursuit	-	OMIM:610217
8398	PLA2G6	HP:0031358	Vegetative state	HP:0040284	ORPHA:35069
8398	PLA2G6	HP:0000365	Hearing impairment	-	OMIM:256600
8398	PLA2G6	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0000338	Hypomimic face	HP:0040282	ORPHA:199351
8398	PLA2G6	HP:0000338	Hypomimic face	1/3	OMIM:612953
8398	PLA2G6	HP:0000347	Micrognathia	-	OMIM:256600
8398	PLA2G6	HP:0000486	Strabismus	0/6	OMIM:256600
8398	PLA2G6	HP:0000486	Strabismus	HP:0040283	ORPHA:35069
8398	PLA2G6	HP:0000511	Vertical supranuclear gaze palsy	1/2	OMIM:612953
8398	PLA2G6	HP:0011220	Prominent forehead	-	OMIM:256600
8398	PLA2G6	HP:0001884	Talipes calcaneovalgus	-	OMIM:610217
8398	PLA2G6	HP:0000572	Visual loss	-	OMIM:256600
8398	PLA2G6	HP:0000571	Hypometric saccades	HP:0040282	ORPHA:199351
8402	SLC25A11	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0025269	Panic attack	HP:0040283	ORPHA:29072
8402	SLC25A11	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:29072
8402	SLC25A11	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0000093	Proteinuria	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0002668	Paraganglioma	7/7	OMIM:618464
8402	SLC25A11	HP:0002668	Paraganglioma	HP:0040281	ORPHA:29072
8402	SLC25A11	HP:0001337	Tremor	HP:0040283	ORPHA:29072
8402	SLC25A11	HP:0000006	Autosomal dominant inheritance	-	OMIM:618464
8402	SLC25A11	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0031284	Flushing	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0002018	Nausea	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0003334	Elevated circulating catecholamine level	-	OMIM:618464
8402	SLC25A11	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0003528	Elevated circulating calcitonin concentration	HP:0040283	ORPHA:29072
8402	SLC25A11	HP:0009711	Retinal capillary hemangioma	HP:0040283	ORPHA:29072
8402	SLC25A11	HP:0100749	Chest pain	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:29072
8402	SLC25A11	HP:0001962	Palpitations	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0000790	Hematuria	HP:0040283	ORPHA:29072
8402	SLC25A11	HP:0000822	Hypertension	-	OMIM:618464
8402	SLC25A11	HP:0000980	Pallor	HP:0040283	ORPHA:29072
8402	SLC25A11	HP:0012222	Arachnoid hemangiomatosis	HP:0040283	ORPHA:29072
8402	SLC25A11	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0012378	Fatigue	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:29072
8402	SLC25A11	HP:0001618	Dysphonia	HP:0040282	ORPHA:29072
8402	SLC25A11	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:29072
8402	SLC25A11	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:29072
8402	SLC25A11	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:29072
8402	SLC25A11	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:29072
8402	SLC25A11	HP:0000526	Aniridia	HP:0040284	ORPHA:29072
8402	SLC25A11	HP:0001824	Weight loss	HP:0040282	ORPHA:29072
8405	SPOP	HP:0001182	Tapered finger	1/5	OMIM:618829
8405	SPOP	HP:0009891	Underdeveloped supraorbital ridges	1/2	OMIM:618828
8405	SPOP	HP:0008551	Microtia	2/5	OMIM:618829
8405	SPOP	HP:0009879	Simplified gyral pattern	1/1	OMIM:618828
8405	SPOP	HP:0001276	Hypertonia	-	OMIM:618828
8405	SPOP	HP:0001270	Motor delay	2/2	OMIM:618828
8405	SPOP	HP:0001270	Motor delay	5/5	OMIM:618829
8405	SPOP	HP:0001269	Hemiparesis	1/5	OMIM:618829
8405	SPOP	HP:0001250	Seizure	2/4	OMIM:618829
8405	SPOP	HP:0001249	Intellectual disability	2/2	OMIM:618828
8405	SPOP	HP:0001249	Intellectual disability	2/2	OMIM:618829
8405	SPOP	HP:0001263	Global developmental delay	2/2	OMIM:618828
8405	SPOP	HP:0002553	Highly arched eyebrow	2/2	OMIM:618828
8405	SPOP	HP:0000076	Vesicoureteral reflux	1/2	OMIM:618828
8405	SPOP	HP:0008872	Feeding difficulties in infancy	2/5	OMIM:618829
8405	SPOP	HP:0001332	Dystonia	1/5	OMIM:618829
8405	SPOP	HP:0000003	Multicystic kidney dysplasia	1/5	OMIM:618829
8405	SPOP	HP:0000006	Autosomal dominant inheritance	-	OMIM:618828
8405	SPOP	HP:0000006	Autosomal dominant inheritance	-	OMIM:618829
8405	SPOP	HP:0001319	Neonatal hypotonia	2/5	OMIM:618829
8405	SPOP	HP:0002643	Neonatal respiratory distress	1/2	OMIM:618828
8405	SPOP	HP:0002020	Gastroesophageal reflux	2/5	OMIM:618829
8405	SPOP	HP:0002003	Large forehead	3/5	OMIM:618829
8405	SPOP	HP:0002007	Frontal bossing	1/5	OMIM:618829
8405	SPOP	HP:0002076	Migraine	3/10	OMIM:618829
8405	SPOP	HP:0002072	Chorea	1/5	OMIM:618829
8405	SPOP	HP:0002057	Prominent glabella	1/2	OMIM:618828
8405	SPOP	HP:0010535	Sleep apnea	3/5	OMIM:618829
8405	SPOP	HP:0100716	Self-injurious behavior	1/2	OMIM:618828
8405	SPOP	HP:0004209	Clinodactyly of the 5th finger	1/2	OMIM:618828
8405	SPOP	HP:0004209	Clinodactyly of the 5th finger	1/5	OMIM:618829
8405	SPOP	HP:0000637	Long palpebral fissure	1/5	OMIM:618829
8405	SPOP	HP:0000609	Optic nerve hypoplasia	1/2	OMIM:618828
8405	SPOP	HP:0000664	Synophrys	1/2	OMIM:618828
8405	SPOP	HP:0004383	Hypoplastic left heart	1/5	OMIM:618829
8405	SPOP	HP:0031936	Delayed ability to walk	1/2	OMIM:618828
8405	SPOP	HP:0031936	Delayed ability to walk	2/5	OMIM:618829
8405	SPOP	HP:0000750	Delayed speech and language development	2/2	OMIM:618828
8405	SPOP	HP:0000750	Delayed speech and language development	4/4	OMIM:618829
8405	SPOP	HP:0011471	Gastrostomy tube feeding in infancy	1/2	OMIM:618828
8405	SPOP	HP:0011451	Primary microcephaly	2/2	OMIM:618828
8405	SPOP	HP:0003196	Short nose	1/2	OMIM:618828
8405	SPOP	HP:0100336	Bilateral cleft lip	1/5	OMIM:618829
8405	SPOP	HP:0100337	Bilateral cleft palate	1/5	OMIM:618829
8405	SPOP	HP:0000821	Hypothyroidism	2/5	OMIM:618829
8405	SPOP	HP:0045075	Sparse eyebrow	2/5	OMIM:618829
8405	SPOP	HP:0000960	Sacral dimple	1/2	OMIM:618828
8405	SPOP	HP:0045025	Narrow palpebral fissure	1/2	OMIM:618828
8405	SPOP	HP:0000286	Epicanthus	1/2	OMIM:618828
8405	SPOP	HP:0000294	Low anterior hairline	1/2	OMIM:618828
8405	SPOP	HP:0000248	Brachycephaly	1/2	OMIM:618828
8405	SPOP	HP:0000218	High palate	1/5	OMIM:618829
8405	SPOP	HP:0001561	Polyhydramnios	1/5	OMIM:618829
8405	SPOP	HP:0000233	Thin vermilion border	1/5	OMIM:618829
8405	SPOP	HP:0001531	Failure to thrive in infancy	1/5	OMIM:618829
8405	SPOP	HP:0000391	Thickened helices	1/2	OMIM:618828
8405	SPOP	HP:0006579	Prolonged neonatal jaundice	1/2	OMIM:618828
8405	SPOP	HP:0000365	Hearing impairment	2/2	OMIM:618828
8405	SPOP	HP:0000358	Posteriorly rotated ears	1/5	OMIM:618829
8405	SPOP	HP:0000369	Low-set ears	3/5	OMIM:618829
8405	SPOP	HP:0000341	Narrow forehead	1/2	OMIM:618828
8405	SPOP	HP:0000347	Micrognathia	1/5	OMIM:618829
8405	SPOP	HP:0000319	Smooth philtrum	2/2	OMIM:618828
8405	SPOP	HP:0000316	Hypertelorism	4/5	OMIM:618829
8405	SPOP	HP:0000325	Triangular face	1/5	OMIM:618829
8405	SPOP	HP:0000307	Pointed chin	2/2	OMIM:618828
8405	SPOP	HP:0000307	Pointed chin	2/5	OMIM:618829
8405	SPOP	HP:0005280	Depressed nasal bridge	1/2	OMIM:618828
8405	SPOP	HP:0005280	Depressed nasal bridge	1/5	OMIM:618829
8405	SPOP	HP:0000486	Strabismus	1/5	OMIM:618829
8405	SPOP	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:618828
8405	SPOP	HP:0000490	Deeply set eye	1/2	OMIM:618828
8405	SPOP	HP:0000490	Deeply set eye	1/5	OMIM:618829
8405	SPOP	HP:0000463	Anteverted nares	1/5	OMIM:618829
8405	SPOP	HP:0012450	Chronic constipation	1/5	OMIM:618829
8405	SPOP	HP:0000448	Prominent nose	1/5	OMIM:618829
8405	SPOP	HP:0000414	Bulbous nose	1/2	OMIM:618828
8405	SPOP	HP:0000414	Bulbous nose	2/5	OMIM:618829
8405	SPOP	HP:0000411	Protruding ear	1/5	OMIM:618829
8405	SPOP	HP:0000426	Prominent nasal bridge	1/2	OMIM:618828
8405	SPOP	HP:0000426	Prominent nasal bridge	2/5	OMIM:618829
8405	SPOP	HP:0000527	Long eyelashes	1/2	OMIM:618828
8405	SPOP	HP:0000506	Telecanthus	1/2	OMIM:618828
8419	BFSP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:611597
8419	BFSP2	HP:0007834	Progressive cataract	-	OMIM:611597
8419	BFSP2	HP:0000519	Developmental cataract	-	OMIM:611597
8419	BFSP2	HP:0000545	Myopia	-	OMIM:611597
8425	LTBP4	HP:0025194	Morgagni diaphragmatic hernia	1/4	OMIM:613177
8425	LTBP4	HP:0025193	Posterolateral diaphragmatic hernia	1/4	OMIM:613177
8425	LTBP4	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:98896
8425	LTBP4	HP:0001270	Motor delay	HP:0040281	ORPHA:98896
8425	LTBP4	HP:0001252	Hypotonia	3/4	OMIM:613177
8425	LTBP4	HP:0001263	Global developmental delay	HP:0040281	ORPHA:98896
8425	LTBP4	HP:0002515	Waddling gait	HP:0040281	ORPHA:98896
8425	LTBP4	HP:0003819	Death in childhood	1/4	OMIM:613177
8425	LTBP4	HP:0001371	Flexion contracture	HP:0040281	ORPHA:98896
8425	LTBP4	HP:0001382	Joint hypermobility	4/4	OMIM:613177
8425	LTBP4	HP:0000023	Inguinal hernia	2/4	OMIM:613177
8425	LTBP4	HP:0001328	Specific learning disability	HP:0040281	ORPHA:98896
8425	LTBP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:613177
8425	LTBP4	HP:0002650	Scoliosis	HP:0040281	ORPHA:98896
8425	LTBP4	HP:0002617	Vascular dilatation	-	OMIM:613177
8425	LTBP4	HP:0008981	Calf muscle hypertrophy	HP:0040281	ORPHA:98896
8425	LTBP4	HP:0002780	Bronchomalacia	1/4	OMIM:613177
8425	LTBP4	HP:0002779	Tracheomalacia	2/4	OMIM:613177
8425	LTBP4	HP:0000126	Hydronephrosis	2/4	OMIM:613177
8425	LTBP4	HP:0002021	Pyloric stenosis	2/4	OMIM:613177
8425	LTBP4	HP:0002020	Gastroesophageal reflux	1/4	OMIM:613177
8425	LTBP4	HP:0002035	Rectal prolapse	1/4	OMIM:613177
8425	LTBP4	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:98896
8425	LTBP4	HP:0011800	Midface retrusion	1/4	OMIM:613177
8425	LTBP4	HP:0100539	Periorbital edema	1/4	OMIM:613177
8425	LTBP4	HP:0002089	Pulmonary hypoplasia	1/4	OMIM:613177
8425	LTBP4	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:98896
8425	LTBP4	HP:0002097	Emphysema	3/3	OMIM:613177
8425	LTBP4	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:98896
8425	LTBP4	HP:0003577	Congenital onset	4/4	OMIM:613177
8425	LTBP4	HP:0100750	Atelectasis	2/4	OMIM:613177
8425	LTBP4	HP:0011968	Feeding difficulties	3/4	OMIM:613177
8425	LTBP4	HP:0004969	Peripheral pulmonary artery stenosis	1/4	OMIM:613177
8425	LTBP4	HP:0012619	Multiple bladder diverticula	3/3	OMIM:613177
8425	LTBP4	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:98896
8425	LTBP4	HP:0000778	Hypoplasia of the thymus	1/4	OMIM:613177
8425	LTBP4	HP:0000835	Adrenal hypoplasia	1/4	OMIM:613177
8425	LTBP4	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:98896
8425	LTBP4	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:98896
8425	LTBP4	HP:0000973	Cutis laxa	4/4	OMIM:613177
8425	LTBP4	HP:0000954	Single transverse palmar crease	1/4	OMIM:613177
8425	LTBP4	HP:0000938	Osteopenia	1/4	OMIM:613177
8425	LTBP4	HP:0000278	Retrognathia	2/4	OMIM:613177
8425	LTBP4	HP:0000272	Malar flattening	1/4	OMIM:613177
8425	LTBP4	HP:0000268	Dolichocephaly	1/4	OMIM:613177
8425	LTBP4	HP:0000239	Large fontanelles	2/3	OMIM:613177
8425	LTBP4	HP:0001582	Redundant skin	3/4	OMIM:613177
8425	LTBP4	HP:0001522	Death in infancy	2/4	OMIM:613177
8425	LTBP4	HP:0001541	Ascites	1/4	OMIM:613177
8425	LTBP4	HP:0001537	Umbilical hernia	2/4	OMIM:613177
8425	LTBP4	HP:0001510	Growth delay	4/4	OMIM:613177
8425	LTBP4	HP:0006532	Recurrent pneumonia	1/4	OMIM:613177
8425	LTBP4	HP:0001601	Laryngomalacia	1/4	OMIM:613177
8425	LTBP4	HP:0001615	Hoarse cry	1/4	OMIM:613177
8425	LTBP4	HP:0000340	Sloping forehead	1/4	OMIM:613177
8425	LTBP4	HP:0000343	Long philtrum	3/3	OMIM:613177
8425	LTBP4	HP:0001667	Right ventricular hypertrophy	1/4	OMIM:613177
8425	LTBP4	HP:0000347	Micrognathia	2/4	OMIM:613177
8425	LTBP4	HP:0000316	Hypertelorism	2/2	OMIM:613177
8425	LTBP4	HP:0001655	Patent foramen ovale	2/3	OMIM:613177
8425	LTBP4	HP:0001623	Breech presentation	1/4	OMIM:613177
8425	LTBP4	HP:0001638	Cardiomyopathy	HP:0040281	ORPHA:98896
8425	LTBP4	HP:0005328	Progeroid facial appearance	1/4	OMIM:613177
8425	LTBP4	HP:0001747	Accessory spleen	1/4	OMIM:613177
8425	LTBP4	HP:0000431	Wide nasal bridge	2/2	OMIM:613177
8425	LTBP4	HP:0001852	Sandal gap	2/4	OMIM:613177
8431	NR0B2	HP:0010982	Polygenic inheritance	-	OMIM:601665
8431	NR0B2	HP:0000007	Autosomal recessive inheritance	-	OMIM:601665
8431	NR0B2	HP:0000006	Autosomal dominant inheritance	-	OMIM:601665
8431	NR0B2	HP:0031819	Increased waist to hip ratio	-	OMIM:601665
8431	NR0B2	HP:0001513	Obesity	-	OMIM:601665
8431	NR0B2	HP:0012340	Decreased resting energy expenditure	-	OMIM:601665
8438	RAD54L	HP:0002665	Lymphoma	-	OMIM:605027
8438	RAD54L	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
8438	RAD54L	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
8438	RAD54L	HP:0003002	Breast carcinoma	-	OMIM:114480
8443	GNPAT	HP:0010920	Zonular cataract	1/1	OMIM:222765
8443	GNPAT	HP:0010864	Intellectual disability, severe	1/1	OMIM:222765
8443	GNPAT	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8443	GNPAT	HP:0001293	Cranial nerve compression	-	OMIM:131300
8443	GNPAT	HP:0001290	Generalized hypotonia	-	OMIM:222765
8443	GNPAT	HP:0001252	Hypotonia	1/1	OMIM:222765
8443	GNPAT	HP:0001252	Hypotonia	2/7	OMIM:615777
8443	GNPAT	HP:0001249	Intellectual disability	-	OMIM:222765
8443	GNPAT	HP:0001249	Intellectual disability	5/7	OMIM:615777
8443	GNPAT	HP:0001263	Global developmental delay	-	OMIM:615777
8443	GNPAT	HP:0002515	Waddling gait	54/102	OMIM:131300
8443	GNPAT	HP:0001371	Flexion contracture	-	OMIM:222765
8443	GNPAT	HP:0001382	Joint hypermobility	-	OMIM:615777
8443	GNPAT	HP:0000023	Inguinal hernia	1/1	OMIM:222765
8443	GNPAT	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8443	GNPAT	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8443	GNPAT	HP:0008838	Stippled calcification proximal humeral epiphyses	1/1	OMIM:222765
8443	GNPAT	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8443	GNPAT	HP:0001324	Muscle weakness	40/96	OMIM:131300
8443	GNPAT	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8443	GNPAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8443	GNPAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:222765
8443	GNPAT	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8443	GNPAT	HP:0002650	Scoliosis	-	OMIM:222765
8443	GNPAT	HP:0002650	Scoliosis	12/14	OMIM:131300
8443	GNPAT	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8443	GNPAT	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:222765
8443	GNPAT	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8443	GNPAT	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8443	GNPAT	HP:0008905	Rhizomelia	1/1	OMIM:222765
8443	GNPAT	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8443	GNPAT	HP:0000176	Submucous cleft hard palate	1/1	OMIM:222765
8443	GNPAT	HP:0000175	Cleft palate	2/7	OMIM:615777
8443	GNPAT	HP:0003301	Irregular vertebral endplates	-	OMIM:222765
8443	GNPAT	HP:0011800	Midface retrusion	1/1	OMIM:222765
8443	GNPAT	HP:0003388	Easy fatigability	36/76	OMIM:131300
8443	GNPAT	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8443	GNPAT	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:222765
8443	GNPAT	HP:0003498	Disproportionate short stature	1/1	OMIM:222765
8443	GNPAT	HP:0003577	Congenital onset	1/1	OMIM:222765
8443	GNPAT	HP:0034671	Knee contracture	1/1	OMIM:222765
8443	GNPAT	HP:0010655	Epiphyseal stippling	2/2	OMIM:222765
8443	GNPAT	HP:0003510	Severe short stature	7/7	OMIM:615777
8443	GNPAT	HP:0002315	Headache	-	OMIM:131300
8443	GNPAT	HP:0004976	Knee dislocation	6/7	OMIM:615777
8443	GNPAT	HP:6000426	Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts	1/1	OMIM:222765
8443	GNPAT	HP:0009803	Short phalanx of finger	-	OMIM:615777
8443	GNPAT	HP:0009763	Limb pain	63/92	OMIM:131300
8443	GNPAT	HP:0003621	Juvenile onset	-	OMIM:131300
8443	GNPAT	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8443	GNPAT	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8443	GNPAT	HP:6001056	Out-toeing	-	OMIM:131300
8443	GNPAT	HP:0000651	Diplopia	-	OMIM:131300
8443	GNPAT	HP:0001956	Truncal obesity	2/7	OMIM:615777
8443	GNPAT	HP:0000609	Optic nerve hypoplasia	1/1	OMIM:222765
8443	GNPAT	HP:0001903	Anemia	HP:0040283	OMIM:131300
8443	GNPAT	HP:0010049	Short metacarpal	-	OMIM:615777
8443	GNPAT	HP:0000678	Dental crowding	-	OMIM:615777
8443	GNPAT	HP:0000670	Carious teeth	-	OMIM:131300
8443	GNPAT	HP:0011304	Broad thumb	2/7	OMIM:615777
8443	GNPAT	HP:0000668	Hypodontia	-	OMIM:615777
8443	GNPAT	HP:0000664	Synophrys	-	OMIM:615777
8443	GNPAT	HP:0004322	Short stature	1/1	OMIM:222765
8443	GNPAT	HP:0004396	Poor appetite	-	OMIM:131300
8443	GNPAT	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8443	GNPAT	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8443	GNPAT	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8443	GNPAT	HP:0003026	Short long bone	7/7	OMIM:615777
8443	GNPAT	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8443	GNPAT	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8443	GNPAT	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8443	GNPAT	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8443	GNPAT	HP:0000750	Delayed speech and language development	-	OMIM:615777
8443	GNPAT	HP:0011461	Fetal onset	7/7	OMIM:615777
8443	GNPAT	HP:0000774	Narrow chest	2/7	OMIM:615777
8443	GNPAT	HP:0000926	Platyspondyly	1/7	OMIM:615777
8443	GNPAT	HP:0003180	Flat acetabular roof	-	OMIM:615777
8443	GNPAT	HP:0004482	Relative macrocephaly	-	OMIM:615777
8443	GNPAT	HP:0005792	Short humerus	-	OMIM:222765
8443	GNPAT	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8443	GNPAT	HP:0000823	Delayed puberty	-	OMIM:131300
8443	GNPAT	HP:0000894	Short clavicles	-	OMIM:615777
8443	GNPAT	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8443	GNPAT	HP:4000165	Decreased circulating plasmalogen concentration	1/1	OMIM:222765
8443	GNPAT	HP:0003273	Hip contracture	1/1	OMIM:222765
8443	GNPAT	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8443	GNPAT	HP:0000938	Osteopenia	-	OMIM:222765
8443	GNPAT	HP:0000286	Epicanthus	1/7	OMIM:615777
8443	GNPAT	HP:0000280	Coarse facial features	2/7	OMIM:615777
8443	GNPAT	HP:0002827	Hip dislocation	3/7	OMIM:615777
8443	GNPAT	HP:0000239	Large fontanelles	-	OMIM:222765
8443	GNPAT	HP:0000252	Microcephaly	-	OMIM:222765
8443	GNPAT	HP:0000252	Microcephaly	-	OMIM:615777
8443	GNPAT	HP:0000218	High palate	-	OMIM:222765
8443	GNPAT	HP:0002857	Genu valgum	-	OMIM:131300
8443	GNPAT	HP:0001533	Slender build	-	OMIM:131300
8443	GNPAT	HP:0001508	Failure to thrive	-	OMIM:222765
8443	GNPAT	HP:0002832	Calcific stippling	-	OMIM:222765
8443	GNPAT	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8443	GNPAT	HP:0007807	Optic nerve compression	-	OMIM:131300
8443	GNPAT	HP:0012368	Flat face	7/7	OMIM:615777
8443	GNPAT	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8443	GNPAT	HP:0000365	Hearing impairment	10/67	OMIM:131300
8443	GNPAT	HP:0000343	Long philtrum	1/7	OMIM:615777
8443	GNPAT	HP:0011001	Increased bone mineral density	-	OMIM:131300
8443	GNPAT	HP:0000348	High forehead	-	OMIM:222765
8443	GNPAT	HP:0000347	Micrognathia	-	OMIM:222765
8443	GNPAT	HP:0000311	Round face	2/7	OMIM:615777
8443	GNPAT	HP:0002970	Genu varum	-	OMIM:615777
8443	GNPAT	HP:0001636	Tetralogy of Fallot	1/1	OMIM:222765
8443	GNPAT	HP:0000303	Mandibular prognathia	-	OMIM:131300
8443	GNPAT	HP:0005280	Depressed nasal bridge	-	OMIM:222765
8443	GNPAT	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8443	GNPAT	HP:0000463	Anteverted nares	-	OMIM:222765
8443	GNPAT	HP:0000470	Short neck	1/7	OMIM:615777
8443	GNPAT	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8443	GNPAT	HP:0001763	Pes planus	1/7	OMIM:615777
8443	GNPAT	HP:0000431	Wide nasal bridge	-	OMIM:222765
8443	GNPAT	HP:0000518	Cataract	1/1	OMIM:222765
8443	GNPAT	HP:0001840	Metatarsus adductus	-	OMIM:615777
8443	GNPAT	HP:0000520	Proptosis	2/4	OMIM:131300
8443	GNPAT	HP:0000520	Proptosis	7/7	OMIM:615777
8443	GNPAT	HP:0000592	Blue sclerae	2/7	OMIM:615777
8443	GNPAT	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8443	GNPAT	HP:0012514	Lower limb pain	4/4	OMIM:131300
8449	DHX16	HP:0020206	Simple ear	1/4	OMIM:618733
8449	DHX16	HP:0002421	Poor head control	1/4	OMIM:618733
8449	DHX16	HP:0003713	Muscle fiber necrosis	1/4	OMIM:618733
8449	DHX16	HP:0001290	Generalized hypotonia	2/4	OMIM:618733
8449	DHX16	HP:0001274	Agenesis of corpus callosum	1/4	OMIM:618733
8449	DHX16	HP:0001284	Areflexia	1/4	OMIM:618733
8449	DHX16	HP:0001249	Intellectual disability	-	OMIM:618733
8449	DHX16	HP:0001263	Global developmental delay	2/2	OMIM:618733
8449	DHX16	HP:0001239	Wrist flexion contracture	1/4	OMIM:618733
8449	DHX16	HP:0000006	Autosomal dominant inheritance	-	OMIM:618733
8449	DHX16	HP:0008981	Calf muscle hypertrophy	1/4	OMIM:618733
8449	DHX16	HP:0002098	Respiratory distress	1/4	OMIM:618733
8449	DHX16	HP:0002069	Bilateral tonic-clonic seizure	1/4	OMIM:618733
8449	DHX16	HP:0003390	Sensory axonal neuropathy	1/4	OMIM:618733
8449	DHX16	HP:0003458	EMG: myopathic abnormalities	1/4	OMIM:618733
8449	DHX16	HP:0007078	Decreased amplitude of sensory action potentials	-	OMIM:618733
8449	DHX16	HP:0002317	Unsteady gait	1/4	OMIM:618733
8449	DHX16	HP:0007165	Periventricular heterotopia	-	OMIM:618733
8449	DHX16	HP:0007182	Peripheral hypomyelination	1/4	OMIM:618733
8449	DHX16	HP:0005565	Reduced renal corticomedullary differentiation	1/4	OMIM:618733
8449	DHX16	HP:0005562	Multiple renal cysts	1/4	OMIM:618733
8449	DHX16	HP:0000762	Decreased nerve conduction velocity	-	OMIM:618733
8449	DHX16	HP:0003236	Elevated circulating creatine kinase concentration	1/4	OMIM:618733
8449	DHX16	HP:0000286	Epicanthus	1/4	OMIM:618733
8449	DHX16	HP:0006380	Knee flexion contracture	1/4	OMIM:618733
8449	DHX16	HP:0002835	Aspiration	1/4	OMIM:618733
8449	DHX16	HP:0007814	Retinal pigment epithelial mottling	1/4	OMIM:618733
8449	DHX16	HP:0007858	Chorioretinal lacunae	1/4	OMIM:618733
8449	DHX16	HP:0000358	Posteriorly rotated ears	1/4	OMIM:618733
8449	DHX16	HP:0000407	Sensorineural hearing impairment	1/4	OMIM:618733
8449	DHX16	HP:0012469	Infantile spasms	1/4	OMIM:618733
8449	DHX16	HP:0001762	Talipes equinovarus	1/4	OMIM:618733
8449	DHX16	HP:0000514	Slow saccadic eye movements	1/4	OMIM:618733
8450	CUL4B	HP:0001156	Brachydactyly	HP:0040283	OMIM:300354
8450	CUL4B	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0009879	Simplified gyral pattern	HP:0040283	OMIM:300354
8450	CUL4B	HP:0001290	Generalized hypotonia	-	OMIM:300354
8450	CUL4B	HP:0001270	Motor delay	5/5	OMIM:300354
8450	CUL4B	HP:0001250	Seizure	HP:0040283	ORPHA:85293
8450	CUL4B	HP:0001250	Seizure	8/11	OMIM:300354
8450	CUL4B	HP:0001252	Hypotonia	-	OMIM:300354
8450	CUL4B	HP:0001249	Intellectual disability	18/18	OMIM:300354
8450	CUL4B	HP:0008734	Decreased testicular size	10/15	OMIM:300354
8450	CUL4B	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:85293
8450	CUL4B	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0002539	Cortical dysplasia	HP:0040283	OMIM:300354
8450	CUL4B	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	OMIM:300354
8450	CUL4B	HP:0000054	Micropenis	-	OMIM:300354
8450	CUL4B	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:85293
8450	CUL4B	HP:0001382	Joint hypermobility	-	OMIM:300354
8450	CUL4B	HP:0000047	Hypospadias	-	OMIM:300354
8450	CUL4B	HP:0000023	Inguinal hernia	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0000028	Cryptorchidism	-	OMIM:300354
8450	CUL4B	HP:0001344	Absent speech	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0001344	Absent speech	-	OMIM:300354
8450	CUL4B	HP:0001337	Tremor	HP:0040282	ORPHA:85293
8450	CUL4B	HP:0001337	Tremor	11/13	OMIM:300354
8450	CUL4B	HP:0002650	Scoliosis	HP:0040282	ORPHA:85293
8450	CUL4B	HP:0000179	Thick lower lip vermilion	6/17	OMIM:300354
8450	CUL4B	HP:0000179	Thick lower lip vermilion	HP:0040282	ORPHA:85293
8450	CUL4B	HP:0000158	Macroglossia	-	OMIM:300354
8450	CUL4B	HP:0000135	Hypogonadism	-	OMIM:300354
8450	CUL4B	HP:0000135	Hypogonadism	HP:0040283	ORPHA:85293
8450	CUL4B	HP:0000154	Wide mouth	-	OMIM:300354
8450	CUL4B	HP:0000154	Wide mouth	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0008944	Distal lower limb amyotrophy	7/12	OMIM:300354
8450	CUL4B	HP:0001419	X-linked recessive inheritance	-	OMIM:300354
8450	CUL4B	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:85293
8450	CUL4B	HP:0002066	Gait ataxia	6/12	OMIM:300354
8450	CUL4B	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	OMIM:300354
8450	CUL4B	HP:0002119	Ventriculomegaly	-	OMIM:300354
8450	CUL4B	HP:0002136	Broad-based gait	HP:0040282	ORPHA:85293
8450	CUL4B	HP:0002126	Polymicrogyria	HP:0040283	OMIM:300354
8450	CUL4B	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:85293
8450	CUL4B	HP:0010720	Abnormal hair pattern	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0001065	Striae distensae	-	OMIM:300354
8450	CUL4B	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0002353	EEG abnormality	HP:0040283	ORPHA:85293
8450	CUL4B	HP:0200021	Down-sloping shoulders	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0010807	Open bite	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0200055	Small hand	-	OMIM:300354
8450	CUL4B	HP:0200055	Small hand	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0006855	Cerebellar vermis atrophy	HP:0040283	OMIM:300354
8450	CUL4B	HP:0004279	Short palm	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0000664	Synophrys	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0004322	Short stature	HP:0040282	ORPHA:85293
8450	CUL4B	HP:0004322	Short stature	-	OMIM:300354
8450	CUL4B	HP:0004326	Cachexia	HP:0040282	ORPHA:85293
8450	CUL4B	HP:0012743	Abdominal obesity	15/19	OMIM:300354
8450	CUL4B	HP:0000752	Hyperactivity	-	OMIM:300354
8450	CUL4B	HP:0000752	Hyperactivity	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0000771	Gynecomastia	7/10	OMIM:300354
8450	CUL4B	HP:0000750	Delayed speech and language development	18/18	OMIM:300354
8450	CUL4B	HP:0000718	Aggressive behavior	12/15	OMIM:300354
8450	CUL4B	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:85293
8450	CUL4B	HP:0000712	Emotional lability	-	OMIM:300354
8450	CUL4B	HP:0004422	Biparietal narrowing	HP:0040283	ORPHA:85293
8450	CUL4B	HP:0004482	Relative macrocephaly	-	OMIM:300354
8450	CUL4B	HP:0000823	Delayed puberty	-	OMIM:300354
8450	CUL4B	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:85293
8450	CUL4B	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:85293
8450	CUL4B	HP:0000286	Epicanthus	HP:0040283	ORPHA:85293
8450	CUL4B	HP:0000280	Coarse facial features	-	OMIM:300354
8450	CUL4B	HP:0000256	Macrocephaly	HP:0040282	ORPHA:85293
8450	CUL4B	HP:0002808	Kyphosis	HP:0040283	ORPHA:85293
8450	CUL4B	HP:0002808	Kyphosis	3/18	OMIM:300354
8450	CUL4B	HP:0000252	Microcephaly	HP:0040283	ORPHA:85293
8450	CUL4B	HP:0000218	High palate	HP:0040282	ORPHA:85293
8450	CUL4B	HP:0001513	Obesity	HP:0040282	ORPHA:85293
8450	CUL4B	HP:0000377	Abnormal pinna morphology	-	OMIM:300354
8450	CUL4B	HP:0000363	Abnormal earlobe morphology	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0000348	High forehead	-	OMIM:300354
8450	CUL4B	HP:0000322	Short philtrum	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:85293
8450	CUL4B	HP:0000303	Mandibular prognathia	-	OMIM:300354
8450	CUL4B	HP:0005280	Depressed nasal bridge	-	OMIM:300354
8450	CUL4B	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0000470	Short neck	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:85293
8450	CUL4B	HP:0001773	Short foot	7/14	OMIM:300354
8450	CUL4B	HP:0001773	Short foot	HP:0040282	ORPHA:85293
8450	CUL4B	HP:0001763	Pes planus	1/18	OMIM:300354
8450	CUL4B	HP:0000448	Prominent nose	HP:0040281	ORPHA:85293
8450	CUL4B	HP:0000414	Bulbous nose	-	OMIM:300354
8450	CUL4B	HP:0001761	Pes cavus	HP:0040282	ORPHA:85293
8450	CUL4B	HP:0001761	Pes cavus	7/8	OMIM:300354
8450	CUL4B	HP:0001852	Sandal gap	11/13	OMIM:300354
8450	CUL4B	HP:0001852	Sandal gap	HP:0040282	ORPHA:85293
8450	CUL4B	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:85293
8452	CUL3	HP:0010864	Intellectual disability, severe	1/2	OMIM:619239
8452	CUL3	HP:0010851	EEG with burst suppression	1/3	OMIM:619239
8452	CUL3	HP:0001270	Motor delay	1/1	OMIM:619239
8452	CUL3	HP:0001256	Intellectual disability, mild	1/3	OMIM:619239
8452	CUL3	HP:0001250	Seizure	2/3	OMIM:619239
8452	CUL3	HP:0002521	Hypsarrhythmia	1/3	OMIM:619239
8452	CUL3	HP:0025336	Delayed ability to sit	3/3	OMIM:619239
8452	CUL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:614496
8452	CUL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:619239
8452	CUL3	HP:0000193	Bifid uvula	1/3	OMIM:619239
8452	CUL3	HP:0000176	Submucous cleft hard palate	1/3	OMIM:619239
8452	CUL3	HP:0002153	Hyperkalemia	-	OMIM:614496
8452	CUL3	HP:0002188	Delayed CNS myelination	1/3	OMIM:619239
8452	CUL3	HP:0008242	Pseudohypoaldosteronism	-	OMIM:614496
8452	CUL3	HP:0003593	Infantile onset	3/3	OMIM:619239
8452	CUL3	HP:0011968	Feeding difficulties	1/3	OMIM:619239
8452	CUL3	HP:0009777	Absent thumb	1/1	OMIM:619239
8452	CUL3	HP:0004918	Hyperchloremic metabolic acidosis	-	OMIM:614496
8452	CUL3	HP:0001942	Metabolic acidosis	-	OMIM:614496
8452	CUL3	HP:0031936	Delayed ability to walk	3/3	OMIM:619239
8452	CUL3	HP:0000752	Hyperactivity	1/3	OMIM:619239
8452	CUL3	HP:0000750	Delayed speech and language development	5/5	OMIM:619239
8452	CUL3	HP:0000729	Autistic behavior	1/1	OMIM:619239
8452	CUL3	HP:0011423	Hyperchloremia	-	OMIM:614496
8452	CUL3	HP:0000822	Hypertension	-	OMIM:614496
8452	CUL3	HP:0000252	Microcephaly	1/1	OMIM:619239
8452	CUL3	HP:0001508	Failure to thrive	1/1	OMIM:619239
8452	CUL3	HP:0032792	Tonic seizure	1/3	OMIM:619239
8452	CUL3	HP:0001642	Pulmonic stenosis	1/3	OMIM:619239
8452	CUL3	HP:0001631	Atrial septal defect	1/3	OMIM:619239
8452	CUL3	HP:0012469	Infantile spasms	2/3	OMIM:619239
8456	FOXN1	HP:0032218	Decreased proportion of CD4-positive T cells	-	OMIM:601705
8456	FOXN1	HP:0100806	Sepsis	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0001287	Meningitis	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:601705
8456	FOXN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618806
8456	FOXN1	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:618806
8456	FOXN1	HP:0002719	Recurrent infections	HP:0040281	ORPHA:83471
8456	FOXN1	HP:0002718	Recurrent bacterial infections	HP:0040282	ORPHA:83471
8456	FOXN1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:169095
8456	FOXN1	HP:0002024	Malabsorption	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0002014	Diarrhea	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0002090	Pneumonia	HP:0040282	ORPHA:83471
8456	FOXN1	HP:0002090	Pneumonia	5/25	OMIM:618806
8456	FOXN1	HP:0003472	Hypocalcemic tetany	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0004798	Recurrent infection of the gastrointestinal tract	HP:0040282	ORPHA:83471
8456	FOXN1	HP:0008404	Nail dystrophy	10/25	OMIM:618806
8456	FOXN1	HP:0008404	Nail dystrophy	-	OMIM:601705
8456	FOXN1	HP:0200122	Atypical or prolonged hepatitis	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0004844	Coombs-positive hemolytic anemia	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0001047	Atopic dermatitis	3/25	OMIM:618806
8456	FOXN1	HP:0100646	Thyroiditis	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0020101	Invasive fungal infection	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0032169	Severe infection	HP:0040282	ORPHA:83471
8456	FOXN1	HP:0009098	Chronic oral candidiasis	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0005597	Congenital alopecia totalis	HP:0040281	ORPHA:169095
8456	FOXN1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0001596	Alopecia	-	OMIM:601705
8456	FOXN1	HP:0031397	Decreased proportion of naive T cells	HP:0040281	ORPHA:83471
8456	FOXN1	HP:0000246	Sinusitis	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:83471
8456	FOXN1	HP:0031381	Decreased mitogen-induced T-cell proliferation	HP:0040281	ORPHA:83471
8456	FOXN1	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0031430	Oligoclonal T cell expansion	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0002960	Autoimmunity	HP:0040282	ORPHA:83471
8456	FOXN1	HP:0005374	Cellular immunodeficiency	HP:0040281	ORPHA:83471
8456	FOXN1	HP:0005387	Combined immunodeficiency	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0005359	Aplasia of the thymus	HP:0040280	ORPHA:83471
8456	FOXN1	HP:0005352	Severe T-cell immunodeficiency	HP:0040281	ORPHA:83471
8456	FOXN1	HP:0005352	Severe T-cell immunodeficiency	-	OMIM:601705
8456	FOXN1	HP:0005366	Recurrent streptococcus pneumoniae infections	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0031545	Abnormally low T cell receptor excision circle level	21/21	OMIM:618806
8456	FOXN1	HP:0005403	Decreased total T cell count	-	OMIM:601705
8456	FOXN1	HP:0005403	Decreased total T cell count	HP:0040281	ORPHA:83471
8456	FOXN1	HP:0005403	Decreased total T cell count	21/21	OMIM:618806
8456	FOXN1	HP:0005403	Decreased total T cell count	HP:0040281	ORPHA:169095
8456	FOXN1	HP:0005401	Recurrent candida infections	HP:0040283	ORPHA:83471
8456	FOXN1	HP:0001807	Ridged nail	-	OMIM:601705
8456	FOXN1	HP:0001807	Ridged nail	HP:0040281	ORPHA:169095
8456	FOXN1	HP:0001803	Nail pits	HP:0040281	ORPHA:169095
8456	FOXN1	HP:0001803	Nail pits	-	OMIM:601705
8456	FOXN1	HP:0031690	Opportunistic infection	HP:0040282	ORPHA:83471
8456	FOXN1	HP:0031691	Severe viral infection	HP:0040282	ORPHA:83471
8462	KLF11	HP:0002594	Pancreatic hypoplasia	HP:0040284	ORPHA:552
8462	KLF11	HP:0000077	Abnormality of the kidney	HP:0040284	ORPHA:552
8462	KLF11	HP:0012028	Hepatocellular adenoma	HP:0040284	ORPHA:552
8462	KLF11	HP:0000006	Autosomal dominant inheritance	-	OMIM:610508
8462	KLF11	HP:0000119	Abnormality of the genitourinary system	HP:0040284	ORPHA:552
8462	KLF11	HP:0000112	Nephropathy	HP:0040283	ORPHA:552
8462	KLF11	HP:0000107	Renal cyst	HP:0040284	ORPHA:552
8462	KLF11	HP:0005978	Type II diabetes mellitus	-	OMIM:610508
8462	KLF11	HP:0008255	Transient neonatal diabetes mellitus	HP:0040283	ORPHA:552
8462	KLF11	HP:0004924	Abnormal oral glucose tolerance	HP:0040282	ORPHA:552
8462	KLF11	HP:0004904	Maturity-onset diabetes of the young	-	OMIM:610508
8462	KLF11	HP:0001953	Diabetic ketoacidosis	-	ORPHA:552
8462	KLF11	HP:0001952	Glucose intolerance	HP:0040282	ORPHA:552
8462	KLF11	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:552
8462	KLF11	HP:0003076	Glycosuria	HP:0040282	ORPHA:552
8462	KLF11	HP:0003074	Hyperglycemia	HP:0040282	ORPHA:552
8462	KLF11	HP:0030794	Abnormal circulating C-peptide concentration	HP:0040282	ORPHA:552
8462	KLF11	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040283	ORPHA:552
8462	KLF11	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040283	ORPHA:552
8462	KLF11	HP:0040214	Abnormal circulating insulin concentration	HP:0040282	ORPHA:552
8462	KLF11	HP:0040217	Elevated hemoglobin A1c	HP:0040282	ORPHA:552
8462	KLF11	HP:0040216	Hypoinsulinemia	HP:0040282	ORPHA:552
8462	KLF11	HP:0000956	Acanthosis nigricans	-	ORPHA:552
8462	KLF11	HP:0030057	Autoimmune antibody positivity	-	ORPHA:552
8462	KLF11	HP:0025502	Overweight	HP:0040283	ORPHA:552
8462	KLF11	HP:0001520	Large for gestational age	HP:0040283	ORPHA:552
8462	KLF11	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:552
8462	KLF11	HP:0001513	Obesity	HP:0040284	ORPHA:552
8462	KLF11	HP:0001738	Exocrine pancreatic insufficiency	HP:0040284	ORPHA:552
8462	KLF11	HP:0000488	Retinopathy	HP:0040283	ORPHA:552
8468	FKBP6	HP:0001181	Adducted thumb	HP:0040283	ORPHA:904
8468	FKBP6	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:904
8468	FKBP6	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:904
8468	FKBP6	HP:0001297	Stroke	HP:0040282	ORPHA:904
8468	FKBP6	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:904
8468	FKBP6	HP:0001288	Gait disturbance	HP:0040281	ORPHA:904
8468	FKBP6	HP:0001252	Hypotonia	HP:0040282	ORPHA:904
8468	FKBP6	HP:0001251	Ataxia	HP:0040281	ORPHA:904
8468	FKBP6	HP:0001249	Intellectual disability	HP:0040281	ORPHA:904
8468	FKBP6	HP:0001260	Dysarthria	HP:0040283	ORPHA:904
8468	FKBP6	HP:0001257	Spasticity	HP:0040282	ORPHA:904
8468	FKBP6	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:904
8468	FKBP6	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:904
8468	FKBP6	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:904
8468	FKBP6	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040283	ORPHA:904
8468	FKBP6	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000093	Proteinuria	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000075	Renal duplication	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:904
8468	FKBP6	HP:0001387	Joint stiffness	HP:0040282	ORPHA:904
8468	FKBP6	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000014	Abnormality of the bladder	HP:0040282	ORPHA:904
8468	FKBP6	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:904
8468	FKBP6	HP:0001361	Nystagmus-induced head nodding	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000025	Functional abnormality of male internal genitalia	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000028	Cryptorchidism	2/6	OMIM:620103
8468	FKBP6	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000027	Azoospermia	1/6	OMIM:620103
8468	FKBP6	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:904
8468	FKBP6	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000007	Autosomal recessive inheritance	-	OMIM:620103
8468	FKBP6	HP:0001337	Tremor	HP:0040281	ORPHA:904
8468	FKBP6	HP:0001310	Dysmetria	HP:0040281	ORPHA:904
8468	FKBP6	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:904
8468	FKBP6	HP:0002650	Scoliosis	HP:0040283	ORPHA:904
8468	FKBP6	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:904
8468	FKBP6	HP:0002623	Overriding aorta	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:904
8468	FKBP6	HP:0000158	Macroglossia	HP:0040281	ORPHA:904
8468	FKBP6	HP:0000154	Wide mouth	HP:0040281	ORPHA:904
8468	FKBP6	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000125	Pelvic kidney	HP:0040282	ORPHA:904
8468	FKBP6	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:904
8468	FKBP6	HP:0002024	Malabsorption	HP:0040283	ORPHA:904
8468	FKBP6	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:904
8468	FKBP6	HP:0002019	Constipation	HP:0040282	ORPHA:904
8468	FKBP6	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:904
8468	FKBP6	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:904
8468	FKBP6	HP:0002027	Abdominal pain	HP:0040281	ORPHA:904
8468	FKBP6	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:904
8468	FKBP6	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:904
8468	FKBP6	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:904
8468	FKBP6	HP:0100539	Periorbital edema	HP:0040281	ORPHA:904
8468	FKBP6	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:904
8468	FKBP6	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:904
8468	FKBP6	HP:0002141	Gait imbalance	HP:0040281	ORPHA:904
8468	FKBP6	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:904
8468	FKBP6	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:904
8468	FKBP6	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:904
8468	FKBP6	HP:0002183	Phonophobia	HP:0040281	ORPHA:904
8468	FKBP6	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:904
8468	FKBP6	HP:0008232	Elevated circulating follicle stimulating hormone level	6/6	OMIM:620103
8468	FKBP6	HP:0010526	Dysgraphia	HP:0040281	ORPHA:904
8468	FKBP6	HP:0002253	Colonic diverticula	HP:0040282	ORPHA:904
8468	FKBP6	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:904
8468	FKBP6	HP:0100785	Insomnia	HP:0040282	ORPHA:904
8468	FKBP6	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:904
8468	FKBP6	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:904
8468	FKBP6	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:904
8468	FKBP6	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:904
8468	FKBP6	HP:0002376	Developmental regression	HP:0040283	ORPHA:904
8468	FKBP6	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:904
8468	FKBP6	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:904
8468	FKBP6	HP:0010807	Open bite	HP:0040281	ORPHA:904
8468	FKBP6	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:904
8468	FKBP6	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:904
8468	FKBP6	HP:0008499	High hypermetropia	HP:0040281	ORPHA:904
8468	FKBP6	HP:0010780	Hyperacusis	HP:0040281	ORPHA:904
8468	FKBP6	HP:0002308	Chiari malformation	HP:0040283	ORPHA:904
8468	FKBP6	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:904
8468	FKBP6	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:904
8468	FKBP6	HP:0004295	Abnormal gastric mucosa morphology	HP:0040283	ORPHA:904
8468	FKBP6	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:904
8468	FKBP6	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000635	Blue irides	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000691	Microdontia	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000670	Carious teeth	HP:0040283	ORPHA:904
8468	FKBP6	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:904
8468	FKBP6	HP:0000668	Hypodontia	HP:0040282	ORPHA:904
8468	FKBP6	HP:0004322	Short stature	HP:0040281	ORPHA:904
8468	FKBP6	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:904
8468	FKBP6	HP:0004305	Involuntary movements	HP:0040281	ORPHA:904
8468	FKBP6	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:904
8468	FKBP6	HP:0004381	Supravalvular aortic stenosis	HP:0040282	ORPHA:904
8468	FKBP6	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:904
8468	FKBP6	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:904
8468	FKBP6	HP:0100025	Overfriendliness	HP:0040281	ORPHA:904
8468	FKBP6	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000739	Anxiety	HP:0040281	ORPHA:904
8468	FKBP6	HP:0000716	Depression	HP:0040281	ORPHA:904
8468	FKBP6	HP:0000717	Autism	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:904
8468	FKBP6	HP:0011462	Young adult onset	6/6	OMIM:620103
8468	FKBP6	HP:0000798	Oligozoospermia	5/6	OMIM:620103
8468	FKBP6	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:904
8468	FKBP6	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:904
8468	FKBP6	HP:0004428	Elfin facies	HP:0040281	ORPHA:904
8468	FKBP6	HP:0003198	Myopathy	HP:0040283	ORPHA:904
8468	FKBP6	HP:0003196	Short nose	HP:0040281	ORPHA:904
8468	FKBP6	HP:0000826	Precocious puberty	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000822	Hypertension	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:904
8468	FKBP6	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:904
8468	FKBP6	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:904
8468	FKBP6	HP:0003251	Male infertility	6/6	OMIM:620103
8468	FKBP6	HP:0034309	Multiflagellar spermatozoa	3/4	OMIM:620103
8468	FKBP6	HP:0000960	Sacral dimple	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000939	Osteoporosis	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000938	Osteopenia	HP:0040283	ORPHA:904
8468	FKBP6	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:904
8468	FKBP6	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:904
8468	FKBP6	HP:0007720	Flat cornea	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000286	Epicanthus	HP:0040281	ORPHA:904
8468	FKBP6	HP:0000280	Coarse facial features	HP:0040281	ORPHA:904
8468	FKBP6	HP:0000275	Narrow face	HP:0040281	ORPHA:904
8468	FKBP6	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:904
8468	FKBP6	HP:0002829	Arthralgia	HP:0040282	ORPHA:904
8468	FKBP6	HP:0030087	Abnormal circulating testosterone concentration	0/6	OMIM:620103
8468	FKBP6	HP:0002808	Kyphosis	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000252	Microcephaly	HP:0040282	ORPHA:904
8468	FKBP6	HP:0001582	Redundant skin	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:904
8468	FKBP6	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:904
8468	FKBP6	HP:0002857	Genu valgum	HP:0040282	ORPHA:904
8468	FKBP6	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:904
8468	FKBP6	HP:0001513	Obesity	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:904
8468	FKBP6	HP:0001609	Hoarse voice	HP:0040281	ORPHA:904
8468	FKBP6	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:904
8468	FKBP6	HP:0001618	Dysphonia	HP:0040283	ORPHA:904
8468	FKBP6	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:904
8468	FKBP6	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000343	Long philtrum	HP:0040281	ORPHA:904
8468	FKBP6	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000337	Broad forehead	HP:0040281	ORPHA:904
8468	FKBP6	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000348	High forehead	HP:0040281	ORPHA:904
8468	FKBP6	HP:0000347	Micrognathia	HP:0040281	ORPHA:904
8468	FKBP6	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:904
8468	FKBP6	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:904
8468	FKBP6	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:904
8468	FKBP6	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:904
8468	FKBP6	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:904
8468	FKBP6	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:904
8468	FKBP6	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:904
8468	FKBP6	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:904
8468	FKBP6	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:904
8468	FKBP6	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:904
8468	FKBP6	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:904
8468	FKBP6	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:904
8468	FKBP6	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000307	Pointed chin	HP:0040281	ORPHA:904
8468	FKBP6	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:904
8468	FKBP6	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:904
8468	FKBP6	HP:0007957	Corneal opacity	HP:0040283	ORPHA:904
8468	FKBP6	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000400	Macrotia	HP:0040281	ORPHA:904
8468	FKBP6	HP:0000486	Strabismus	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000485	Megalocornea	HP:0040283	ORPHA:904
8468	FKBP6	HP:0000464	Abnormality of the neck	HP:0040281	ORPHA:904
8468	FKBP6	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:904
8468	FKBP6	HP:0001763	Pes planus	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000411	Protruding ear	HP:0040281	ORPHA:904
8468	FKBP6	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:904
8468	FKBP6	HP:0000518	Cataract	HP:0040283	ORPHA:904
8468	FKBP6	HP:0001822	Hallux valgus	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000505	Visual impairment	HP:0040282	ORPHA:904
8468	FKBP6	HP:0000501	Glaucoma	HP:0040283	ORPHA:904
8468	FKBP6	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:904
8468	FKBP6	HP:0030345	Abnormal circulating luteinizing hormone concentration	0/6	OMIM:620103
8468	FKBP6	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:904
8468	FKBP6	HP:0000545	Myopia	HP:0040283	ORPHA:904
8471	IRS4	HP:0001419	X-linked recessive inheritance	-	OMIM:301035
8471	IRS4	HP:0005990	Thyroid hypoplasia	9/17	OMIM:301035
8471	IRS4	HP:0011787	Central hypothyroidism	-	OMIM:301035
8471	IRS4	HP:0003623	Neonatal onset	-	OMIM:301035
8471	IRS4	HP:0004322	Short stature	-	OMIM:301035
8471	IRS4	HP:0033075	Inappropriately normal thyroid-stimulating hormone level	-	OMIM:301035
8471	IRS4	HP:0033078	Decreased circulating free T4 concentration	-	OMIM:301035
8473	OGT	HP:0001249	Intellectual disability	3/3	OMIM:300997
8473	OGT	HP:0001263	Global developmental delay	2/2	OMIM:300997
8473	OGT	HP:0008734	Decreased testicular size	1/3	OMIM:300997
8473	OGT	HP:0000047	Hypospadias	2/3	OMIM:300997
8473	OGT	HP:0000028	Cryptorchidism	-	OMIM:300997
8473	OGT	HP:0000194	Open mouth	2/3	OMIM:300997
8473	OGT	HP:0001419	X-linked recessive inheritance	-	OMIM:300997
8473	OGT	HP:0002236	Frontal upsweep of hair	1/3	OMIM:300997
8473	OGT	HP:0008499	High hypermetropia	1/2	OMIM:300997
8473	OGT	HP:0004209	Clinodactyly of the 5th finger	3/3	OMIM:300997
8473	OGT	HP:0000639	Nystagmus	1/2	OMIM:300997
8473	OGT	HP:0000646	Amblyopia	1/2	OMIM:300997
8473	OGT	HP:0000664	Synophrys	1/3	OMIM:300997
8473	OGT	HP:0030084	Clinodactyly	2/2	OMIM:300997
8473	OGT	HP:0000252	Microcephaly	2/5	OMIM:300997
8473	OGT	HP:0000219	Thin upper lip vermilion	1/3	OMIM:300997
8473	OGT	HP:0000369	Low-set ears	2/2	OMIM:300997
8473	OGT	HP:0001647	Bicuspid aortic valve	1/2	OMIM:300997
8473	OGT	HP:0000316	Hypertelorism	2/2	OMIM:300997
8473	OGT	HP:0012471	Thick vermilion border	2/2	OMIM:300997
8481	OFD1	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:2750
8481	OFD1	HP:0001156	Brachydactyly	1/1	OMIM:300804
8481	OFD1	HP:0001156	Brachydactyly	-	OMIM:311200
8481	OFD1	HP:0001156	Brachydactyly	HP:0040283	ORPHA:2750
8481	OFD1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:2754
8481	OFD1	HP:0001162	Postaxial hand polydactyly	1/3	OMIM:300209
8481	OFD1	HP:0001162	Postaxial hand polydactyly	6/9	OMIM:300804
8481	OFD1	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:2750
8481	OFD1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
8481	OFD1	HP:0001161	Hand polydactyly	HP:0040282	ORPHA:2750
8481	OFD1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2754
8481	OFD1	HP:0001159	Syndactyly	3/7	OMIM:311200
8481	OFD1	HP:0001159	Syndactyly	HP:0040282	ORPHA:2754
8481	OFD1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
8481	OFD1	HP:0001133	Constriction of peripheral visual field	1/1	OMIM:300424
8481	OFD1	HP:0002475	Myelomeningocele	HP:0040283	OMIM:311200
8481	OFD1	HP:0001141	Severely reduced visual acuity	2/2	OMIM:300424
8481	OFD1	HP:0002444	Hypothalamic hamartoma	-	OMIM:311200
8481	OFD1	HP:0002444	Hypothalamic hamartoma	HP:0040283	ORPHA:2754
8481	OFD1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
8481	OFD1	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
8481	OFD1	HP:0025161	Frequent temper tantrums	1/1	OMIM:300804
8481	OFD1	HP:0010864	Intellectual disability, severe	9/9	OMIM:300804
8481	OFD1	HP:0010864	Intellectual disability, severe	3/3	OMIM:300209
8481	OFD1	HP:0002419	Molar tooth sign on MRI	3/3	OMIM:300804
8481	OFD1	HP:0002419	Molar tooth sign on MRI	HP:0040282	ORPHA:2754
8481	OFD1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8481	OFD1	HP:0001293	Cranial nerve compression	-	OMIM:131300
8481	OFD1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:2754
8481	OFD1	HP:0001274	Agenesis of corpus callosum	-	OMIM:311200
8481	OFD1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:2750
8481	OFD1	HP:0001270	Motor delay	1/1	OMIM:300804
8481	OFD1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
8481	OFD1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:2754
8481	OFD1	HP:0001250	Seizure	HP:0040282	ORPHA:2750
8481	OFD1	HP:0001250	Seizure	HP:0040283	ORPHA:2754
8481	OFD1	HP:0001250	Seizure	-	OMIM:311200
8481	OFD1	HP:0001250	Seizure	HP:0040283	ORPHA:475
8481	OFD1	HP:0001252	Hypotonia	HP:0040282	ORPHA:2754
8481	OFD1	HP:0001252	Hypotonia	1/1	OMIM:300804
8481	OFD1	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
8481	OFD1	HP:0001252	Hypotonia	1/3	OMIM:300209
8481	OFD1	HP:0001252	Hypotonia	2/7	OMIM:615777
8481	OFD1	HP:0001251	Ataxia	HP:0040282	ORPHA:2750
8481	OFD1	HP:0001251	Ataxia	HP:0040282	ORPHA:2754
8481	OFD1	HP:0001251	Ataxia	HP:0040281	ORPHA:475
8481	OFD1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2750
8481	OFD1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2754
8481	OFD1	HP:0001249	Intellectual disability	2/7	OMIM:311200
8481	OFD1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
8481	OFD1	HP:0001249	Intellectual disability	5/7	OMIM:615777
8481	OFD1	HP:0002591	Polyphagia	1/1	OMIM:300804
8481	OFD1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2754
8481	OFD1	HP:0001263	Global developmental delay	-	OMIM:300804
8481	OFD1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
8481	OFD1	HP:0001263	Global developmental delay	1/3	OMIM:300209
8481	OFD1	HP:0001263	Global developmental delay	-	OMIM:615777
8481	OFD1	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
8481	OFD1	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:2750
8481	OFD1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
8481	OFD1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2754
8481	OFD1	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:2754
8481	OFD1	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2754
8481	OFD1	HP:0002536	Abnormal cortical gyration	-	OMIM:311200
8481	OFD1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
8481	OFD1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:2754
8481	OFD1	HP:0001217	Clubbing	HP:0040283	ORPHA:244
8481	OFD1	HP:0002515	Waddling gait	54/102	OMIM:131300
8481	OFD1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:2750
8481	OFD1	HP:0000093	Proteinuria	-	OMIM:311200
8481	OFD1	HP:0000093	Proteinuria	HP:0040283	ORPHA:2750
8481	OFD1	HP:0001395	Hepatic fibrosis	-	OMIM:311200
8481	OFD1	HP:0001382	Joint hypermobility	-	OMIM:615777
8481	OFD1	HP:0000023	Inguinal hernia	1/3	OMIM:300209
8481	OFD1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8481	OFD1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8481	OFD1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
8481	OFD1	HP:0008872	Feeding difficulties in infancy	-	OMIM:300804
8481	OFD1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:2754
8481	OFD1	HP:0006145	Central Y-shaped metacarpal	HP:0040283	ORPHA:2754
8481	OFD1	HP:0001332	Dystonia	HP:0040283	ORPHA:2750
8481	OFD1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8481	OFD1	HP:0001324	Muscle weakness	40/96	OMIM:131300
8481	OFD1	HP:0001344	Absent speech	2/2	OMIM:300804
8481	OFD1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8481	OFD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
8481	OFD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8481	OFD1	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:2750
8481	OFD1	HP:0001337	Tremor	HP:0040283	ORPHA:475
8481	OFD1	HP:0001337	Tremor	HP:0040283	ORPHA:2750
8481	OFD1	HP:0001337	Tremor	HP:0040283	ORPHA:2754
8481	OFD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
8481	OFD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8481	OFD1	HP:0001310	Dysmetria	1/1	OMIM:300804
8481	OFD1	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:2750
8481	OFD1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
8481	OFD1	HP:0001320	Cerebellar vermis hypoplasia	2/2	OMIM:300804
8481	OFD1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:2754
8481	OFD1	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
8481	OFD1	HP:0002650	Scoliosis	12/14	OMIM:131300
8481	OFD1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8481	OFD1	HP:0002643	Neonatal respiratory distress	1/3	OMIM:300209
8481	OFD1	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
8481	OFD1	HP:0002617	Vascular dilatation	-	OMIM:311200
8481	OFD1	HP:0002617	Vascular dilatation	HP:0040283	ORPHA:2750
8481	OFD1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8481	OFD1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8481	OFD1	HP:0000187	Broad alveolar ridges	HP:0040281	ORPHA:2750
8481	OFD1	HP:0000180	Lobulated tongue	-	OMIM:311200
8481	OFD1	HP:0000180	Lobulated tongue	HP:0040281	ORPHA:2750
8481	OFD1	HP:0000180	Lobulated tongue	HP:0040282	ORPHA:2754
8481	OFD1	HP:0000199	Tongue nodules	-	OMIM:311200
8481	OFD1	HP:0000199	Tongue nodules	HP:0040282	ORPHA:2750
8481	OFD1	HP:0000199	Tongue nodules	HP:0040282	ORPHA:2754
8481	OFD1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8481	OFD1	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:2754
8481	OFD1	HP:0000191	Accessory oral frenulum	HP:0040281	ORPHA:2750
8481	OFD1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:2750
8481	OFD1	HP:0000161	Median cleft upper lip	-	OMIM:311200
8481	OFD1	HP:0000161	Median cleft upper lip	HP:0040281	ORPHA:2750
8481	OFD1	HP:0000175	Cleft palate	5/7	OMIM:311200
8481	OFD1	HP:0000175	Cleft palate	2/7	OMIM:615777
8481	OFD1	HP:0000175	Cleft palate	HP:0040282	ORPHA:2750
8481	OFD1	HP:0000175	Cleft palate	HP:0040282	ORPHA:2754
8481	OFD1	HP:0000138	Ovarian cyst	-	OMIM:311200
8481	OFD1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
8481	OFD1	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
8481	OFD1	HP:0006349	Agenesis of permanent teeth	-	OMIM:311200
8481	OFD1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
8481	OFD1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
8481	OFD1	HP:0006297	Enamel hypoplasia	-	OMIM:311200
8481	OFD1	HP:0002783	Recurrent lower respiratory tract infections	1/3	OMIM:300209
8481	OFD1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
8481	OFD1	HP:0000113	Polycystic kidney dysplasia	3/7	OMIM:311200
8481	OFD1	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
8481	OFD1	HP:0002788	Recurrent upper respiratory tract infections	1/3	OMIM:300209
8481	OFD1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2750
8481	OFD1	HP:0001423	X-linked dominant inheritance	-	OMIM:311200
8481	OFD1	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
8481	OFD1	HP:0000104	Renal agenesis	HP:0040283	ORPHA:2754
8481	OFD1	HP:0001407	Hepatic cysts	1/7	OMIM:311200
8481	OFD1	HP:0001419	X-linked recessive inheritance	-	OMIM:300209
8481	OFD1	HP:0001419	X-linked recessive inheritance	-	OMIM:300424
8481	OFD1	HP:0001419	X-linked recessive inheritance	-	OMIM:300804
8481	OFD1	HP:0031245	Productive cough	HP:0040282	ORPHA:244
8481	OFD1	HP:0002719	Recurrent infections	9/9	OMIM:300804
8481	OFD1	HP:0002002	Deep philtrum	-	OMIM:300804
8481	OFD1	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
8481	OFD1	HP:0002007	Frontal bossing	-	OMIM:300804
8481	OFD1	HP:0002007	Frontal bossing	-	OMIM:311200
8481	OFD1	HP:0002007	Frontal bossing	HP:0040281	ORPHA:2750
8481	OFD1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:2754
8481	OFD1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
8481	OFD1	HP:0011802	Hamartoma of tongue	2/7	OMIM:311200
8481	OFD1	HP:0011802	Hamartoma of tongue	HP:0040282	ORPHA:2750
8481	OFD1	HP:0011802	Hamartoma of tongue	HP:0040282	ORPHA:2754
8481	OFD1	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
8481	OFD1	HP:0002059	Cerebral atrophy	1/7	OMIM:311200
8481	OFD1	HP:0003388	Easy fatigability	36/76	OMIM:131300
8481	OFD1	HP:0010442	Polydactyly	1/7	OMIM:311200
8481	OFD1	HP:0009466	Radial deviation of finger	-	OMIM:311200
8481	OFD1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8481	OFD1	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
8481	OFD1	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
8481	OFD1	HP:0002119	Ventriculomegaly	1/3	OMIM:300209
8481	OFD1	HP:0002132	Porencephalic cyst	-	OMIM:311200
8481	OFD1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
8481	OFD1	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
8481	OFD1	HP:0002104	Apnea	HP:0040281	ORPHA:475
8481	OFD1	HP:0002104	Apnea	HP:0040283	ORPHA:2754
8481	OFD1	HP:0002187	Intellectual disability, profound	-	OMIM:300804
8481	OFD1	HP:0008222	Female infertility	HP:0040283	ORPHA:244
8481	OFD1	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:2750
8481	OFD1	HP:0003593	Infantile onset	1/3	OMIM:300209
8481	OFD1	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
8481	OFD1	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:2754
8481	OFD1	HP:0003577	Congenital onset	7/7	OMIM:311200
8481	OFD1	HP:0003577	Congenital onset	8/8	OMIM:300804
8481	OFD1	HP:0003577	Congenital onset	2/3	OMIM:300209
8481	OFD1	HP:0100702	Arachnoid cyst	-	OMIM:311200
8481	OFD1	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
8481	OFD1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
8481	OFD1	HP:0002208	Coarse hair	HP:0040283	ORPHA:2750
8481	OFD1	HP:0002205	Recurrent respiratory infections	1/3	OMIM:300209
8481	OFD1	HP:0002282	Gray matter heterotopia	-	OMIM:311200
8481	OFD1	HP:0002280	Enlarged cisterna magna	-	OMIM:300804
8481	OFD1	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
8481	OFD1	HP:0002299	Brittle hair	HP:0040283	ORPHA:2750
8481	OFD1	HP:0007036	Hypoplasia of olfactory tract	HP:0040282	ORPHA:2754
8481	OFD1	HP:0008368	Tarsal synostosis	HP:0040283	ORPHA:2750
8481	OFD1	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
8481	OFD1	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040283	ORPHA:2750
8481	OFD1	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
8481	OFD1	HP:0003510	Severe short stature	7/7	OMIM:615777
8481	OFD1	HP:0001056	Milia	HP:0040283	ORPHA:2750
8481	OFD1	HP:0001056	Milia	4/6	OMIM:311200
8481	OFD1	HP:0001007	Hirsutism	1/1	OMIM:300804
8481	OFD1	HP:0002350	Cerebellar cyst	1/7	OMIM:311200
8481	OFD1	HP:0002315	Headache	-	OMIM:131300
8481	OFD1	HP:0004976	Knee dislocation	6/7	OMIM:615777
8481	OFD1	HP:0010807	Open bite	HP:0040283	ORPHA:2750
8481	OFD1	HP:0100612	Odontogenic neoplasm	HP:0040283	ORPHA:2750
8481	OFD1	HP:0009803	Short phalanx of finger	-	OMIM:615777
8481	OFD1	HP:0033454	Tube feeding	2/2	OMIM:300804
8481	OFD1	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
8481	OFD1	HP:0009763	Limb pain	63/92	OMIM:131300
8481	OFD1	HP:0003621	Juvenile onset	8/19	OMIM:180100
8481	OFD1	HP:0003621	Juvenile onset	-	OMIM:131300
8481	OFD1	HP:0003621	Juvenile onset	1/2	OMIM:300424
8481	OFD1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8481	OFD1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:2750
8481	OFD1	HP:0009085	Alveolar ridge overgrowth	-	OMIM:311200
8481	OFD1	HP:0009084	Midline notch of upper alveolar ridge	HP:0040283	ORPHA:2754
8481	OFD1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8481	OFD1	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
8481	OFD1	HP:0000639	Nystagmus	HP:0040282	ORPHA:2754
8481	OFD1	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
8481	OFD1	HP:6001056	Out-toeing	-	OMIM:131300
8481	OFD1	HP:0000651	Diplopia	-	OMIM:131300
8481	OFD1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
8481	OFD1	HP:0000618	Blindness	HP:0040281	ORPHA:791
8481	OFD1	HP:0000613	Photophobia	1/2	OMIM:300424
8481	OFD1	HP:0000613	Photophobia	HP:0040281	ORPHA:791
8481	OFD1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
8481	OFD1	HP:0001954	Recurrent fever	1/1	OMIM:300804
8481	OFD1	HP:0001956	Truncal obesity	2/7	OMIM:615777
8481	OFD1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
8481	OFD1	HP:0001903	Anemia	HP:0040283	OMIM:131300
8481	OFD1	HP:0010049	Short metacarpal	-	OMIM:615777
8481	OFD1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
8481	OFD1	HP:0011359	Dry hair	1/7	OMIM:311200
8481	OFD1	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
8481	OFD1	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:2750
8481	OFD1	HP:0000678	Dental crowding	-	OMIM:615777
8481	OFD1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
8481	OFD1	HP:0000662	Nyctalopia	26/28	OMIM:180100
8481	OFD1	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
8481	OFD1	HP:0000670	Carious teeth	-	OMIM:131300
8481	OFD1	HP:0000670	Carious teeth	-	OMIM:311200
8481	OFD1	HP:0011304	Broad thumb	2/7	OMIM:615777
8481	OFD1	HP:0011304	Broad thumb	1/3	OMIM:300209
8481	OFD1	HP:0000668	Hypodontia	-	OMIM:615777
8481	OFD1	HP:0000668	Hypodontia	HP:0040282	ORPHA:2750
8481	OFD1	HP:0000664	Synophrys	-	OMIM:615777
8481	OFD1	HP:0004325	Decreased body weight	1/1	OMIM:300804
8481	OFD1	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
8481	OFD1	HP:0004322	Short stature	HP:0040282	ORPHA:2754
8481	OFD1	HP:0004322	Short stature	1/1	OMIM:300804
8481	OFD1	HP:0004322	Short stature	-	OMIM:311200
8481	OFD1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
8481	OFD1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
8481	OFD1	HP:0004396	Poor appetite	-	OMIM:131300
8481	OFD1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8481	OFD1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8481	OFD1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8481	OFD1	HP:0003026	Short long bone	7/7	OMIM:615777
8481	OFD1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8481	OFD1	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:2750
8481	OFD1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8481	OFD1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8481	OFD1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8481	OFD1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
8481	OFD1	HP:0000750	Delayed speech and language development	-	OMIM:615777
8481	OFD1	HP:0011463	Childhood onset	3/19	OMIM:180100
8481	OFD1	HP:0011463	Childhood onset	1/2	OMIM:300424
8481	OFD1	HP:0011462	Young adult onset	8/19	OMIM:180100
8481	OFD1	HP:0011461	Fetal onset	7/7	OMIM:615777
8481	OFD1	HP:0000774	Narrow chest	2/7	OMIM:615777
8481	OFD1	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
8481	OFD1	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2754
8481	OFD1	HP:0030786	Photopsia	HP:0040283	ORPHA:791
8481	OFD1	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:2750
8481	OFD1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:2750
8481	OFD1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
8481	OFD1	HP:0000926	Platyspondyly	1/7	OMIM:615777
8481	OFD1	HP:0003180	Flat acetabular roof	-	OMIM:615777
8481	OFD1	HP:0004482	Relative macrocephaly	-	OMIM:615777
8481	OFD1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8481	OFD1	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
8481	OFD1	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
8481	OFD1	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
8481	OFD1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
8481	OFD1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
8481	OFD1	HP:0000822	Hypertension	-	OMIM:311200
8481	OFD1	HP:0000822	Hypertension	HP:0040283	ORPHA:2750
8481	OFD1	HP:0000823	Delayed puberty	-	OMIM:131300
8481	OFD1	HP:0010297	Bifid tongue	1/7	OMIM:311200
8481	OFD1	HP:0010296	Ankyloglossia	1/7	OMIM:311200
8481	OFD1	HP:0040019	Finger clinodactyly	HP:0040282	ORPHA:2754
8481	OFD1	HP:0000894	Short clavicles	-	OMIM:615777
8481	OFD1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8481	OFD1	HP:0030828	Wheezing	HP:0040283	ORPHA:244
8481	OFD1	HP:0030825	Absent foveal reflex	1/1	OMIM:300424
8481	OFD1	HP:0003251	Male infertility	HP:0040282	ORPHA:244
8481	OFD1	HP:0100260	Mesoaxial polydactyly	HP:0040283	ORPHA:2754
8481	OFD1	HP:0100267	Lip pit	HP:0040283	ORPHA:2750
8481	OFD1	HP:0100258	Preaxial polydactyly	HP:0040282	ORPHA:2754
8481	OFD1	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
8481	OFD1	HP:0000958	Dry skin	HP:0040283	ORPHA:2750
8481	OFD1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8481	OFD1	HP:0008070	Sparse hair	-	OMIM:311200
8481	OFD1	HP:0008070	Sparse hair	HP:0040283	ORPHA:2750
8481	OFD1	HP:0009381	Short finger	2/3	OMIM:300209
8481	OFD1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
8481	OFD1	HP:0007722	Retinal pigment epithelial atrophy	2/2	OMIM:300424
8481	OFD1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
8481	OFD1	HP:0000286	Epicanthus	-	OMIM:311200
8481	OFD1	HP:0000286	Epicanthus	HP:0040283	ORPHA:2750
8481	OFD1	HP:0000286	Epicanthus	HP:0040282	ORPHA:2754
8481	OFD1	HP:0000286	Epicanthus	-	OMIM:300804
8481	OFD1	HP:0000286	Epicanthus	1/7	OMIM:615777
8481	OFD1	HP:0000280	Coarse facial features	2/7	OMIM:615777
8481	OFD1	HP:0025573	Mild myopia	1/2	OMIM:300424
8481	OFD1	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
8481	OFD1	HP:0001596	Alopecia	3/7	OMIM:311200
8481	OFD1	HP:0001596	Alopecia	HP:0040283	ORPHA:2750
8481	OFD1	HP:0000256	Macrocephaly	1/9	OMIM:300804
8481	OFD1	HP:0000256	Macrocephaly	1/3	OMIM:300209
8481	OFD1	HP:0000276	Long face	HP:0040282	ORPHA:475
8481	OFD1	HP:0000276	Long face	HP:0040282	ORPHA:2754
8481	OFD1	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:2750
8481	OFD1	HP:0000268	Dolichocephaly	1/6	OMIM:311200
8481	OFD1	HP:0025549	Eccentric visual fixation	1/2	OMIM:300424
8481	OFD1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
8481	OFD1	HP:0007787	Posterior subcapsular cataract	1/2	OMIM:300424
8481	OFD1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
8481	OFD1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
8481	OFD1	HP:0002827	Hip dislocation	3/7	OMIM:615777
8481	OFD1	HP:0030084	Clinodactyly	2/7	OMIM:311200
8481	OFD1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
8481	OFD1	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
8481	OFD1	HP:0000238	Hydrocephalus	-	OMIM:311200
8481	OFD1	HP:0000252	Microcephaly	1/9	OMIM:300804
8481	OFD1	HP:0000252	Microcephaly	-	OMIM:311200
8481	OFD1	HP:0000252	Microcephaly	-	OMIM:615777
8481	OFD1	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
8481	OFD1	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
8481	OFD1	HP:0000218	High palate	1/7	OMIM:311200
8481	OFD1	HP:0000218	High palate	HP:0040281	ORPHA:2750
8481	OFD1	HP:0000218	High palate	HP:0040282	ORPHA:2754
8481	OFD1	HP:0000218	High palate	1/3	OMIM:300209
8481	OFD1	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
8481	OFD1	HP:0002876	Episodic tachypnea	HP:0040283	ORPHA:2754
8481	OFD1	HP:0001561	Polyhydramnios	1/9	OMIM:300804
8481	OFD1	HP:0002857	Genu valgum	-	OMIM:131300
8481	OFD1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
8481	OFD1	HP:0001533	Slender build	-	OMIM:131300
8481	OFD1	HP:0000204	Cleft upper lip	3/7	OMIM:311200
8481	OFD1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2754
8481	OFD1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8481	OFD1	HP:0001510	Growth delay	-	OMIM:300804
8481	OFD1	HP:0001510	Growth delay	HP:0040282	ORPHA:2754
8481	OFD1	HP:0001513	Obesity	1/3	OMIM:300209
8481	OFD1	HP:0001513	Obesity	1/9	OMIM:300804
8481	OFD1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
8481	OFD1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
8481	OFD1	HP:0007843	Attenuation of retinal blood vessels	1/1	OMIM:300424
8481	OFD1	HP:0007807	Optic nerve compression	-	OMIM:131300
8481	OFD1	HP:0011069	Supernumerary tooth	-	OMIM:311200
8481	OFD1	HP:0012368	Flat face	7/7	OMIM:615777
8481	OFD1	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:2750
8481	OFD1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
8481	OFD1	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
8481	OFD1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8481	OFD1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:2750
8481	OFD1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
8481	OFD1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
8481	OFD1	HP:0000365	Hearing impairment	-	OMIM:311200
8481	OFD1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2750
8481	OFD1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
8481	OFD1	HP:0000365	Hearing impairment	10/67	OMIM:131300
8481	OFD1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2754
8481	OFD1	HP:0000369	Low-set ears	-	OMIM:311200
8481	OFD1	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
8481	OFD1	HP:0000369	Low-set ears	2/2	OMIM:300804
8481	OFD1	HP:0000369	Low-set ears	1/3	OMIM:300209
8481	OFD1	HP:0000343	Long philtrum	1/7	OMIM:615777
8481	OFD1	HP:0011001	Increased bone mineral density	-	OMIM:131300
8481	OFD1	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
8481	OFD1	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
8481	OFD1	HP:0000347	Micrognathia	HP:0040283	ORPHA:2750
8481	OFD1	HP:0000347	Micrognathia	HP:0040282	ORPHA:2754
8481	OFD1	HP:0000316	Hypertelorism	-	OMIM:311200
8481	OFD1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2750
8481	OFD1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2754
8481	OFD1	HP:0000311	Round face	2/7	OMIM:615777
8481	OFD1	HP:0000324	Facial asymmetry	1/6	OMIM:311200
8481	OFD1	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:2750
8481	OFD1	HP:0001627	Abnormal heart morphology	-	OMIM:311200
8481	OFD1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
8481	OFD1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2754
8481	OFD1	HP:0002970	Genu varum	-	OMIM:615777
8481	OFD1	HP:0000308	Microretrognathia	-	OMIM:311200
8481	OFD1	HP:0000303	Mandibular prognathia	-	OMIM:131300
8481	OFD1	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
8481	OFD1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
8481	OFD1	HP:0001738	Exocrine pancreatic insufficiency	HP:0040283	ORPHA:2750
8481	OFD1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
8481	OFD1	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
8481	OFD1	HP:0001737	Pancreatic cysts	1/7	OMIM:311200
8481	OFD1	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:2750
8481	OFD1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
8481	OFD1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
8481	OFD1	HP:0000405	Conductive hearing impairment	1/1	OMIM:300804
8481	OFD1	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:2754
8481	OFD1	HP:0001732	Abnormality of the pancreas	HP:0040283	ORPHA:2750
8481	OFD1	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
8481	OFD1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8481	OFD1	HP:0000486	Strabismus	HP:0040283	ORPHA:475
8481	OFD1	HP:0012471	Thick vermilion border	12/12	OMIM:300804
8481	OFD1	HP:0000494	Downslanted palpebral fissures	-	OMIM:300804
8481	OFD1	HP:0000494	Downslanted palpebral fissures	1/6	OMIM:311200
8481	OFD1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:2750
8481	OFD1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
8481	OFD1	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:2754
8481	OFD1	HP:0000470	Short neck	1/7	OMIM:615777
8481	OFD1	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
8481	OFD1	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
8481	OFD1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8481	OFD1	HP:0001763	Pes planus	1/7	OMIM:615777
8481	OFD1	HP:0000453	Choanal atresia	HP:0040283	ORPHA:2750
8481	OFD1	HP:0001746	Asplenia	HP:0040284	ORPHA:244
8481	OFD1	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
8481	OFD1	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
8481	OFD1	HP:0000431	Wide nasal bridge	1/1	OMIM:300804
8481	OFD1	HP:0000431	Wide nasal bridge	-	OMIM:311200
8481	OFD1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:2750
8481	OFD1	HP:0000430	Underdeveloped nasal alae	11/16	OMIM:311200
8481	OFD1	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:2750
8481	OFD1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
8481	OFD1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:2754
8481	OFD1	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
8481	OFD1	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
8481	OFD1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
8481	OFD1	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
8481	OFD1	HP:0000510	Rod-cone dystrophy	2/2	OMIM:300424
8481	OFD1	HP:0000510	Rod-cone dystrophy	3/8	OMIM:300804
8481	OFD1	HP:0001840	Metatarsus adductus	-	OMIM:615777
8481	OFD1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
8481	OFD1	HP:0000520	Proptosis	2/4	OMIM:131300
8481	OFD1	HP:0000520	Proptosis	7/7	OMIM:615777
8481	OFD1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
8481	OFD1	HP:0001829	Foot polydactyly	HP:0040282	ORPHA:2750
8481	OFD1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:2754
8481	OFD1	HP:0000506	Telecanthus	-	OMIM:311200
8481	OFD1	HP:0000506	Telecanthus	HP:0040283	ORPHA:2750
8481	OFD1	HP:0000508	Ptosis	HP:0040283	ORPHA:475
8481	OFD1	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
8481	OFD1	HP:0001830	Postaxial foot polydactyly	6/9	OMIM:300804
8481	OFD1	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
8481	OFD1	HP:0001831	Short toe	HP:0040282	ORPHA:2750
8481	OFD1	HP:0004097	Deviation of finger	HP:0040282	ORPHA:2750
8481	OFD1	HP:0000575	Scotoma	5/18	OMIM:180100
8481	OFD1	HP:0000592	Blue sclerae	2/7	OMIM:615777
8481	OFD1	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
8481	OFD1	HP:0001885	Short 2nd toe	1/7	OMIM:311200
8481	OFD1	HP:0000565	Esotropia	HP:0040282	ORPHA:2754
8481	OFD1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8481	OFD1	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
8481	OFD1	HP:0000551	Color vision defect	1/2	OMIM:300424
8481	OFD1	HP:0012514	Lower limb pain	4/4	OMIM:131300
8481	OFD1	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
8481	OFD1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
8481	OFD1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
8481	OFD1	HP:0000545	Myopia	-	OMIM:180100
8482	SEMA7A	HP:0000007	Autosomal recessive inheritance	-	OMIM:619874
8482	SEMA7A	HP:0003593	Infantile onset	1/1	OMIM:619874
8482	SEMA7A	HP:0002240	Hepatomegaly	0/1	OMIM:619874
8482	SEMA7A	HP:0033479	Abnormal circulating bilirubin concentration	0/1	OMIM:619874
8482	SEMA7A	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:619874
8482	SEMA7A	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:619874
8482	SEMA7A	HP:0000989	Pruritus	0/1	OMIM:619874
8482	SEMA7A	HP:0012202	Increased serum bile acid concentration	1/1	OMIM:619874
8490	RGS5	HP:0001426	Non-Mendelian inheritance	-	OMIM:145500
8490	RGS5	HP:0004972	Elevated mean arterial pressure	-	OMIM:145500
8490	RGS5	HP:0004421	Elevated systolic blood pressure	-	OMIM:145500
8490	RGS5	HP:0005117	Elevated diastolic blood pressure	-	OMIM:145500
8492	PRSS12	HP:0010864	Intellectual disability, severe	5/5	OMIM:249500
8492	PRSS12	HP:0000007	Autosomal recessive inheritance	-	OMIM:249500
8492	PRSS12	HP:0003487	Babinski sign	-	OMIM:249500
8492	PRSS12	HP:0002151	Increased circulating lactate concentration	0/4	OMIM:249500
8492	PRSS12	HP:0006801	Hyperactive deep tendon reflexes	-	OMIM:249500
8492	PRSS12	HP:0000639	Nystagmus	-	OMIM:249500
8492	PRSS12	HP:0011463	Childhood onset	5/5	OMIM:249500
8492	PRSS12	HP:0000486	Strabismus	-	OMIM:249500
8493	PPM1D	HP:0001156	Brachydactyly	-	OMIM:617450
8493	PPM1D	HP:0025195	Central diaphragmatic hernia	1/14	OMIM:617450
8493	PPM1D	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8493	PPM1D	HP:0001293	Cranial nerve compression	-	OMIM:131300
8493	PPM1D	HP:0001252	Hypotonia	10/14	OMIM:617450
8493	PPM1D	HP:0001252	Hypotonia	2/7	OMIM:615777
8493	PPM1D	HP:0001249	Intellectual disability	13/14	OMIM:617450
8493	PPM1D	HP:0001249	Intellectual disability	5/7	OMIM:615777
8493	PPM1D	HP:0001263	Global developmental delay	-	OMIM:617450
8493	PPM1D	HP:0001263	Global developmental delay	-	OMIM:615777
8493	PPM1D	HP:0002515	Waddling gait	54/102	OMIM:131300
8493	PPM1D	HP:0001382	Joint hypermobility	-	OMIM:615777
8493	PPM1D	HP:0002697	Parietal foramina	1/14	OMIM:617450
8493	PPM1D	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8493	PPM1D	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8493	PPM1D	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8493	PPM1D	HP:0001324	Muscle weakness	40/96	OMIM:131300
8493	PPM1D	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8493	PPM1D	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8493	PPM1D	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
8493	PPM1D	HP:0000006	Autosomal dominant inheritance	-	OMIM:617450
8493	PPM1D	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8493	PPM1D	HP:0002650	Scoliosis	12/14	OMIM:131300
8493	PPM1D	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8493	PPM1D	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8493	PPM1D	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8493	PPM1D	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8493	PPM1D	HP:0000175	Cleft palate	2/7	OMIM:615777
8493	PPM1D	HP:0000154	Wide mouth	6/12	OMIM:617450
8493	PPM1D	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
8493	PPM1D	HP:0002719	Recurrent infections	5/9	OMIM:617450
8493	PPM1D	HP:0002020	Gastroesophageal reflux	10/13	OMIM:617450
8493	PPM1D	HP:0002019	Constipation	8/13	OMIM:617450
8493	PPM1D	HP:0002013	Vomiting	-	OMIM:617450
8493	PPM1D	HP:0003307	Hyperlordosis	7/10	OMIM:617450
8493	PPM1D	HP:0003388	Easy fatigability	36/76	OMIM:131300
8493	PPM1D	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8493	PPM1D	HP:0002136	Broad-based gait	5/10	OMIM:617450
8493	PPM1D	HP:0007018	Attention deficit hyperactivity disorder	1/14	OMIM:617450
8493	PPM1D	HP:0011968	Feeding difficulties	10/14	OMIM:617450
8493	PPM1D	HP:0003510	Severe short stature	7/7	OMIM:615777
8493	PPM1D	HP:0002315	Headache	-	OMIM:131300
8493	PPM1D	HP:0004976	Knee dislocation	6/7	OMIM:615777
8493	PPM1D	HP:0009803	Short phalanx of finger	-	OMIM:615777
8493	PPM1D	HP:0200055	Small hand	10/11	OMIM:617450
8493	PPM1D	HP:0010780	Hyperacusis	7/7	OMIM:617450
8493	PPM1D	HP:0009763	Limb pain	63/92	OMIM:131300
8493	PPM1D	HP:0003621	Juvenile onset	-	OMIM:131300
8493	PPM1D	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8493	PPM1D	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8493	PPM1D	HP:6001056	Out-toeing	-	OMIM:131300
8493	PPM1D	HP:0000651	Diplopia	-	OMIM:131300
8493	PPM1D	HP:0001956	Truncal obesity	2/7	OMIM:615777
8493	PPM1D	HP:0001903	Anemia	HP:0040283	OMIM:131300
8493	PPM1D	HP:0010049	Short metacarpal	-	OMIM:615777
8493	PPM1D	HP:0000678	Dental crowding	-	OMIM:615777
8493	PPM1D	HP:0000670	Carious teeth	-	OMIM:131300
8493	PPM1D	HP:0011304	Broad thumb	2/7	OMIM:615777
8493	PPM1D	HP:0000668	Hypodontia	-	OMIM:615777
8493	PPM1D	HP:0000664	Synophrys	-	OMIM:615777
8493	PPM1D	HP:0004322	Short stature	9/12	OMIM:617450
8493	PPM1D	HP:0003002	Breast carcinoma	-	OMIM:114480
8493	PPM1D	HP:0004396	Poor appetite	-	OMIM:131300
8493	PPM1D	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8493	PPM1D	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8493	PPM1D	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8493	PPM1D	HP:0003026	Short long bone	7/7	OMIM:615777
8493	PPM1D	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8493	PPM1D	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8493	PPM1D	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8493	PPM1D	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8493	PPM1D	HP:0000739	Anxiety	4/14	OMIM:617450
8493	PPM1D	HP:0000750	Delayed speech and language development	-	OMIM:617450
8493	PPM1D	HP:0000750	Delayed speech and language development	-	OMIM:615777
8493	PPM1D	HP:0000729	Autistic behavior	4/14	OMIM:617450
8493	PPM1D	HP:0000722	Compulsive behaviors	1/14	OMIM:617450
8493	PPM1D	HP:0011461	Fetal onset	7/7	OMIM:615777
8493	PPM1D	HP:0000774	Narrow chest	2/7	OMIM:615777
8493	PPM1D	HP:0000926	Platyspondyly	1/7	OMIM:615777
8493	PPM1D	HP:0003180	Flat acetabular roof	-	OMIM:615777
8493	PPM1D	HP:0004482	Relative macrocephaly	-	OMIM:615777
8493	PPM1D	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8493	PPM1D	HP:0000823	Delayed puberty	-	OMIM:131300
8493	PPM1D	HP:0000894	Short clavicles	-	OMIM:615777
8493	PPM1D	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8493	PPM1D	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8493	PPM1D	HP:0000286	Epicanthus	1/7	OMIM:615777
8493	PPM1D	HP:0000280	Coarse facial features	2/7	OMIM:615777
8493	PPM1D	HP:0002827	Hip dislocation	3/7	OMIM:615777
8493	PPM1D	HP:0000252	Microcephaly	-	OMIM:615777
8493	PPM1D	HP:0000219	Thin upper lip vermilion	10/12	OMIM:617450
8493	PPM1D	HP:0002857	Genu valgum	-	OMIM:131300
8493	PPM1D	HP:0001533	Slender build	-	OMIM:131300
8493	PPM1D	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8493	PPM1D	HP:0007807	Optic nerve compression	-	OMIM:131300
8493	PPM1D	HP:0012368	Flat face	7/7	OMIM:615777
8493	PPM1D	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8493	PPM1D	HP:0001601	Laryngomalacia	1/14	OMIM:617450
8493	PPM1D	HP:0000365	Hearing impairment	10/67	OMIM:131300
8493	PPM1D	HP:0000358	Posteriorly rotated ears	8/10	OMIM:617450
8493	PPM1D	HP:0000369	Low-set ears	7/10	OMIM:617450
8493	PPM1D	HP:0000343	Long philtrum	1/7	OMIM:615777
8493	PPM1D	HP:0011001	Increased bone mineral density	-	OMIM:131300
8493	PPM1D	HP:0000337	Broad forehead	8/12	OMIM:617450
8493	PPM1D	HP:0001647	Bicuspid aortic valve	1/14	OMIM:617450
8493	PPM1D	HP:0000311	Round face	2/7	OMIM:615777
8493	PPM1D	HP:0001629	Ventricular septal defect	1/14	OMIM:617450
8493	PPM1D	HP:0002970	Genu varum	-	OMIM:615777
8493	PPM1D	HP:0000303	Mandibular prognathia	-	OMIM:131300
8493	PPM1D	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8493	PPM1D	HP:0000486	Strabismus	7/14	OMIM:617450
8493	PPM1D	HP:0001792	Small nail	6/12	OMIM:617450
8493	PPM1D	HP:0000463	Anteverted nares	5/12	OMIM:617450
8493	PPM1D	HP:0000470	Short neck	1/7	OMIM:615777
8493	PPM1D	HP:0001773	Short foot	7/8	OMIM:617450
8493	PPM1D	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8493	PPM1D	HP:0001763	Pes planus	1/7	OMIM:615777
8493	PPM1D	HP:0001840	Metatarsus adductus	-	OMIM:615777
8493	PPM1D	HP:0000520	Proptosis	2/4	OMIM:131300
8493	PPM1D	HP:0000520	Proptosis	7/7	OMIM:615777
8493	PPM1D	HP:0000592	Blue sclerae	2/7	OMIM:615777
8493	PPM1D	HP:0000540	Hypermetropia	5/14	OMIM:617450
8493	PPM1D	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8493	PPM1D	HP:0012514	Lower limb pain	4/4	OMIM:131300
8496	PPFIBP1	HP:0007305	CNS demyelination	3/3	OMIM:620024
8496	PPFIBP1	HP:0001276	Hypertonia	10/16	OMIM:620024
8496	PPFIBP1	HP:0001270	Motor delay	15/16	OMIM:620024
8496	PPFIBP1	HP:0001252	Hypotonia	5/16	OMIM:620024
8496	PPFIBP1	HP:0001249	Intellectual disability	15/16	OMIM:620024
8496	PPFIBP1	HP:0001263	Global developmental delay	15/16	OMIM:620024
8496	PPFIBP1	HP:0007359	Focal-onset seizure	11/16	OMIM:620024
8496	PPFIBP1	HP:0007334	Bilateral tonic-clonic seizure with focal onset	2/16	OMIM:620024
8496	PPFIBP1	HP:0002521	Hypsarrhythmia	4/14	OMIM:620024
8496	PPFIBP1	HP:0002514	Cerebral calcification	9/9	OMIM:620024
8496	PPFIBP1	HP:0002510	Spastic tetraplegia	6/16	OMIM:620024
8496	PPFIBP1	HP:0003811	Neonatal death	1/3	OMIM:620024
8496	PPFIBP1	HP:0000028	Cryptorchidism	3/10	OMIM:620024
8496	PPFIBP1	HP:0001332	Dystonia	3/16	OMIM:620024
8496	PPFIBP1	HP:0001344	Absent speech	15/16	OMIM:620024
8496	PPFIBP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620024
8496	PPFIBP1	HP:0001302	Pachygyria	3/14	OMIM:620024
8496	PPFIBP1	HP:0001320	Cerebellar vermis hypoplasia	2/14	OMIM:620024
8496	PPFIBP1	HP:0000122	Unilateral renal agenesis	1/3	OMIM:620024
8496	PPFIBP1	HP:0002079	Hypoplasia of the corpus callosum	7/14	OMIM:620024
8496	PPFIBP1	HP:0033140	Blake's pouch cyst	1/14	OMIM:620024
8496	PPFIBP1	HP:0002120	Cerebral cortical atrophy	3/14	OMIM:620024
8496	PPFIBP1	HP:0002119	Ventriculomegaly	1/9	OMIM:620024
8496	PPFIBP1	HP:0002197	Generalized-onset seizure	7/16	OMIM:620024
8496	PPFIBP1	HP:0003577	Congenital onset	19/19	OMIM:620024
8496	PPFIBP1	HP:0002282	Gray matter heterotopia	1/14	OMIM:620024
8496	PPFIBP1	HP:0011968	Feeding difficulties	7/16	OMIM:620024
8496	PPFIBP1	HP:0002384	Focal impaired awareness seizure	1/16	OMIM:620024
8496	PPFIBP1	HP:0002352	Leukoencephalopathy	11/14	OMIM:620024
8496	PPFIBP1	HP:0006821	Frontal polymicrogyria	1/14	OMIM:620024
8496	PPFIBP1	HP:0000639	Nystagmus	4/16	OMIM:620024
8496	PPFIBP1	HP:0011330	Metopic synostosis	3/3	OMIM:620024
8496	PPFIBP1	HP:0004322	Short stature	7/16	OMIM:620024
8496	PPFIBP1	HP:0006970	Periventricular leukomalacia	3/3	OMIM:620024
8496	PPFIBP1	HP:0011451	Primary microcephaly	3/3	OMIM:620024
8496	PPFIBP1	HP:0011641	Coronary artery fistula	1/16	OMIM:620024
8496	PPFIBP1	HP:0000252	Microcephaly	15/16	OMIM:620024
8496	PPFIBP1	HP:0001508	Failure to thrive	8/16	OMIM:620024
8496	PPFIBP1	HP:0001518	Small for gestational age	9/16	OMIM:620024
8496	PPFIBP1	HP:0011097	Epileptic spasm	7/16	OMIM:620024
8496	PPFIBP1	HP:0000365	Hearing impairment	4/16	OMIM:620024
8496	PPFIBP1	HP:0032792	Tonic seizure	3/16	OMIM:620024
8496	PPFIBP1	HP:0032794	Myoclonic seizure	6/16	OMIM:620024
8496	PPFIBP1	HP:0001643	Patent ductus arteriosus	7/19	OMIM:620024
8496	PPFIBP1	HP:0001629	Ventricular septal defect	2/16	OMIM:620024
8496	PPFIBP1	HP:0001631	Atrial septal defect	4/19	OMIM:620024
8504	PEX3	HP:0001133	Constriction of peripheral visual field	HP:0040281	ORPHA:772
8504	PEX3	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:912
8504	PEX3	HP:0001290	Generalized hypotonia	-	OMIM:614882
8504	PEX3	HP:0001284	Areflexia	-	OMIM:614882
8504	PEX3	HP:0001250	Seizure	HP:0040283	ORPHA:772
8504	PEX3	HP:0001250	Seizure	HP:0040281	ORPHA:44
8504	PEX3	HP:0001250	Seizure	-	OMIM:614882
8504	PEX3	HP:0001250	Seizure	HP:0040282	ORPHA:912
8504	PEX3	HP:0001252	Hypotonia	HP:0040282	ORPHA:772
8504	PEX3	HP:0001252	Hypotonia	HP:0040281	ORPHA:44
8504	PEX3	HP:0001251	Ataxia	HP:0040282	ORPHA:772
8504	PEX3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:772
8504	PEX3	HP:0001263	Global developmental delay	1/1	OMIM:617370
8504	PEX3	HP:0001258	Spastic paraplegia	1/1	OMIM:617370
8504	PEX3	HP:0001257	Spasticity	HP:0040282	ORPHA:772
8504	PEX3	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:912
8504	PEX3	HP:0001399	Hepatic failure	HP:0040281	ORPHA:912
8504	PEX3	HP:0001392	Abnormality of the liver	HP:0040281	ORPHA:44
8504	PEX3	HP:0000047	Hypospadias	HP:0040282	ORPHA:912
8504	PEX3	HP:0001347	Hyperreflexia	1/1	OMIM:617370
8504	PEX3	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:44
8504	PEX3	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:912
8504	PEX3	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:912
8504	PEX3	HP:0000011	Neurogenic bladder	1/1	OMIM:617370
8504	PEX3	HP:0000007	Autosomal recessive inheritance	-	OMIM:617370
8504	PEX3	HP:0000007	Autosomal recessive inheritance	-	OMIM:614882
8504	PEX3	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:912
8504	PEX3	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:912
8504	PEX3	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:912
8504	PEX3	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:912
8504	PEX3	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:44
8504	PEX3	HP:0008936	Axial hypotonia	1/1	OMIM:617370
8504	PEX3	HP:0008935	Generalized neonatal hypotonia	-	OMIM:614882
8504	PEX3	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:44
8504	PEX3	HP:0000121	Nephrocalcinosis	1/1	OMIM:617370
8504	PEX3	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:912
8504	PEX3	HP:0002024	Malabsorption	HP:0040282	ORPHA:912
8504	PEX3	HP:0002021	Pyloric stenosis	HP:0040282	ORPHA:912
8504	PEX3	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:772
8504	PEX3	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:912
8504	PEX3	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:912
8504	PEX3	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:772
8504	PEX3	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:772
8504	PEX3	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:912
8504	PEX3	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:912
8504	PEX3	HP:0010571	Elevated circulating phytanic acid concentration	HP:0040281	ORPHA:772
8504	PEX3	HP:0008207	Primary adrenal insufficiency	HP:0040281	ORPHA:44
8504	PEX3	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:912
8504	PEX3	HP:0002266	Focal clonic seizure	1/1	OMIM:617370
8504	PEX3	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:44
8504	PEX3	HP:0003577	Congenital onset	1/1	OMIM:617370
8504	PEX3	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:772
8504	PEX3	HP:0002240	Hepatomegaly	-	OMIM:614882
8504	PEX3	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:912
8504	PEX3	HP:0010655	Epiphyseal stippling	-	OMIM:614882
8504	PEX3	HP:0010655	Epiphyseal stippling	HP:0040281	ORPHA:912
8504	PEX3	HP:0011968	Feeding difficulties	-	OMIM:614882
8504	PEX3	HP:0010628	Facial palsy	HP:0040283	ORPHA:772
8504	PEX3	HP:0002376	Developmental regression	HP:0040281	ORPHA:44
8504	PEX3	HP:0002353	EEG abnormality	HP:0040281	ORPHA:44
8504	PEX3	HP:0002353	EEG abnormality	HP:0040281	ORPHA:912
8504	PEX3	HP:0001088	Brushfield spots	HP:0040283	ORPHA:912
8504	PEX3	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:912
8504	PEX3	HP:0000639	Nystagmus	HP:0040282	ORPHA:772
8504	PEX3	HP:0000639	Nystagmus	HP:0040281	ORPHA:44
8504	PEX3	HP:0000639	Nystagmus	1/1	OMIM:617370
8504	PEX3	HP:0000639	Nystagmus	HP:0040282	ORPHA:912
8504	PEX3	HP:0000648	Optic atrophy	HP:0040283	ORPHA:772
8504	PEX3	HP:0000648	Optic atrophy	HP:0040281	ORPHA:44
8504	PEX3	HP:0000648	Optic atrophy	HP:0040282	ORPHA:912
8504	PEX3	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:912
8504	PEX3	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:912
8504	PEX3	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:44
8504	PEX3	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:44
8504	PEX3	HP:0011344	Severe global developmental delay	-	OMIM:614882
8504	PEX3	HP:0000662	Nyctalopia	HP:0040281	ORPHA:772
8504	PEX3	HP:0004322	Short stature	HP:0040281	ORPHA:772
8504	PEX3	HP:0004322	Short stature	HP:0040281	ORPHA:44
8504	PEX3	HP:0004322	Short stature	HP:0040281	ORPHA:912
8504	PEX3	HP:0012736	Profound global developmental delay	HP:0040281	ORPHA:912
8504	PEX3	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:44
8504	PEX3	HP:0000708	Atypical behavior	HP:0040282	ORPHA:772
8504	PEX3	HP:0003186	Inverted nipples	1/1	OMIM:617370
8504	PEX3	HP:0000952	Jaundice	HP:0040281	ORPHA:912
8504	PEX3	HP:0008064	Ichthyosis	HP:0040283	ORPHA:772
8504	PEX3	HP:0011675	Arrhythmia	HP:0040283	ORPHA:772
8504	PEX3	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:44
8504	PEX3	HP:0000286	Epicanthus	-	OMIM:614882
8504	PEX3	HP:0000286	Epicanthus	HP:0040281	ORPHA:912
8504	PEX3	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:44
8504	PEX3	HP:0000260	Wide anterior fontanel	HP:0040281	ORPHA:912
8504	PEX3	HP:0000256	Macrocephaly	HP:0040282	ORPHA:44
8504	PEX3	HP:0000256	Macrocephaly	HP:0040282	ORPHA:912
8504	PEX3	HP:0000271	Abnormality of the face	HP:0040283	ORPHA:772
8504	PEX3	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:44
8504	PEX3	HP:0000252	Microcephaly	HP:0040282	ORPHA:912
8504	PEX3	HP:0000218	High palate	-	OMIM:614882
8504	PEX3	HP:0000218	High palate	HP:0040282	ORPHA:912
8504	PEX3	HP:0001558	Decreased fetal movement	-	OMIM:614882
8504	PEX3	HP:0001522	Death in infancy	-	OMIM:614882
8504	PEX3	HP:0001522	Death in infancy	HP:0040281	ORPHA:912
8504	PEX3	HP:0001508	Failure to thrive	HP:0040281	ORPHA:772
8504	PEX3	HP:0001508	Failure to thrive	HP:0040281	ORPHA:912
8504	PEX3	HP:0012389	Appendicular hypotonia	1/1	OMIM:617370
8504	PEX3	HP:0012368	Flat face	HP:0040281	ORPHA:912
8504	PEX3	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:912
8504	PEX3	HP:0000365	Hearing impairment	HP:0040282	ORPHA:772
8504	PEX3	HP:0000358	Posteriorly rotated ears	1/1	OMIM:617370
8504	PEX3	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:44
8504	PEX3	HP:0000369	Low-set ears	1/1	OMIM:617370
8504	PEX3	HP:0000337	Broad forehead	-	OMIM:614882
8504	PEX3	HP:0000348	High forehead	HP:0040281	ORPHA:44
8504	PEX3	HP:0000348	High forehead	-	OMIM:614882
8504	PEX3	HP:0000348	High forehead	HP:0040281	ORPHA:912
8504	PEX3	HP:0000348	High forehead	1/1	OMIM:617370
8504	PEX3	HP:0000347	Micrognathia	-	OMIM:614882
8504	PEX3	HP:0000347	Micrognathia	HP:0040282	ORPHA:912
8504	PEX3	HP:0000316	Hypertelorism	-	OMIM:614882
8504	PEX3	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:912
8504	PEX3	HP:0001622	Premature birth	HP:0040282	ORPHA:912
8504	PEX3	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:772
8504	PEX3	HP:0007957	Corneal opacity	HP:0040281	ORPHA:912
8504	PEX3	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:772
8504	PEX3	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:44
8504	PEX3	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:912
8504	PEX3	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:912
8504	PEX3	HP:0000486	Strabismus	HP:0040281	ORPHA:44
8504	PEX3	HP:0000494	Downslanted palpebral fissures	-	OMIM:614882
8504	PEX3	HP:0000463	Anteverted nares	HP:0040281	ORPHA:44
8504	PEX3	HP:0000474	Thickened nuchal skin fold	HP:0040283	ORPHA:912
8504	PEX3	HP:0000448	Prominent nose	-	OMIM:614882
8504	PEX3	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:44
8504	PEX3	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:912
8504	PEX3	HP:0005469	Flat occiput	HP:0040282	ORPHA:912
8504	PEX3	HP:0000518	Cataract	1/1	OMIM:617370
8504	PEX3	HP:0000518	Cataract	HP:0040283	ORPHA:772
8504	PEX3	HP:0000518	Cataract	HP:0040282	ORPHA:44
8504	PEX3	HP:0000518	Cataract	-	OMIM:614882
8504	PEX3	HP:0000518	Cataract	HP:0040282	ORPHA:912
8504	PEX3	HP:0000510	Rod-cone dystrophy	HP:0040281	ORPHA:772
8504	PEX3	HP:0000508	Ptosis	HP:0040282	ORPHA:44
8504	PEX3	HP:0000505	Visual impairment	HP:0040281	ORPHA:772
8504	PEX3	HP:0000505	Visual impairment	HP:0040282	ORPHA:44
8504	PEX3	HP:0000505	Visual impairment	HP:0040282	ORPHA:912
8504	PEX3	HP:0000501	Glaucoma	HP:0040283	ORPHA:912
8504	PEX3	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:912
8504	PEX3	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:912
8506	CNTNAP1	HP:0001188	Hand clenching	-	OMIM:618186
8506	CNTNAP1	HP:0001290	Generalized hypotonia	-	OMIM:616286
8506	CNTNAP1	HP:0001272	Cerebellar atrophy	-	OMIM:616286
8506	CNTNAP1	HP:0001272	Cerebellar atrophy	-	OMIM:618186
8506	CNTNAP1	HP:0001284	Areflexia	1/3	OMIM:618186
8506	CNTNAP1	HP:0001284	Areflexia	-	OMIM:616286
8506	CNTNAP1	HP:0001250	Seizure	HP:0040284	OMIM:618186
8506	CNTNAP1	HP:0001252	Hypotonia	-	OMIM:616286
8506	CNTNAP1	HP:0001252	Hypotonia	HP:0040281	ORPHA:2680
8506	CNTNAP1	HP:0001265	Hyporeflexia	-	OMIM:618186
8506	CNTNAP1	HP:0001257	Spasticity	-	OMIM:618186
8506	CNTNAP1	HP:0003811	Neonatal death	2/3	OMIM:618186
8506	CNTNAP1	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:2680
8506	CNTNAP1	HP:0001371	Flexion contracture	HP:0040284	OMIM:618186
8506	CNTNAP1	HP:0001349	Facial diplegia	1/3	OMIM:618186
8506	CNTNAP1	HP:0001349	Facial diplegia	-	OMIM:616286
8506	CNTNAP1	HP:0001347	Hyperreflexia	-	OMIM:618186
8506	CNTNAP1	HP:0001332	Dystonia	-	OMIM:618186
8506	CNTNAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618186
8506	CNTNAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616286
8506	CNTNAP1	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:2680
8506	CNTNAP1	HP:0000189	Narrow palate	1/3	OMIM:618186
8506	CNTNAP1	HP:0002020	Gastroesophageal reflux	-	OMIM:618186
8506	CNTNAP1	HP:0004691	2-3 toe syndactyly	1/3	OMIM:618186
8506	CNTNAP1	HP:0002098	Respiratory distress	HP:0040281	ORPHA:2680
8506	CNTNAP1	HP:0002093	Respiratory insufficiency	-	OMIM:618186
8506	CNTNAP1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:616286
8506	CNTNAP1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:618186
8506	CNTNAP1	HP:0002059	Cerebral atrophy	-	OMIM:616286
8506	CNTNAP1	HP:0003470	Paralysis	-	OMIM:616286
8506	CNTNAP1	HP:0003487	Babinski sign	-	OMIM:618186
8506	CNTNAP1	HP:0003457	EMG abnormality	HP:0040281	ORPHA:2680
8506	CNTNAP1	HP:0003431	Decreased motor nerve conduction velocity	1/3	OMIM:618186
8506	CNTNAP1	HP:0003429	CNS hypomyelination	-	OMIM:618186
8506	CNTNAP1	HP:0003577	Congenital onset	3/3	OMIM:618186
8506	CNTNAP1	HP:0200136	Oral-pharyngeal dysphagia	-	OMIM:616286
8506	CNTNAP1	HP:0012697	Small basal ganglia	-	OMIM:616286
8506	CNTNAP1	HP:0001989	Fetal akinesia sequence	2/2	OMIM:616286
8506	CNTNAP1	HP:0004326	Cachexia	-	OMIM:618186
8506	CNTNAP1	HP:0034197	Third trimester onset	4/4	OMIM:616286
8506	CNTNAP1	HP:0005684	Distal arthrogryposis	4/4	OMIM:616286
8506	CNTNAP1	HP:0003121	Limb joint contracture	-	OMIM:618186
8506	CNTNAP1	HP:0000817	Reduced eye contact	1/3	OMIM:618186
8506	CNTNAP1	HP:0003202	Skeletal muscle atrophy	-	OMIM:616286
8506	CNTNAP1	HP:0000286	Epicanthus	11/13	OMIM:618186
8506	CNTNAP1	HP:0000278	Retrognathia	1/3	OMIM:618186
8506	CNTNAP1	HP:0000268	Dolichocephaly	-	OMIM:618186
8506	CNTNAP1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	OMIM:618186
8506	CNTNAP1	HP:0006380	Knee flexion contracture	-	OMIM:616286
8506	CNTNAP1	HP:0000252	Microcephaly	-	OMIM:618186
8506	CNTNAP1	HP:0002878	Respiratory failure	1/3	OMIM:618186
8506	CNTNAP1	HP:0000218	High palate	-	OMIM:618186
8506	CNTNAP1	HP:0000212	Gingival overgrowth	-	OMIM:618186
8506	CNTNAP1	HP:0001561	Polyhydramnios	1/3	OMIM:618186
8506	CNTNAP1	HP:0001561	Polyhydramnios	-	OMIM:616286
8506	CNTNAP1	HP:0001558	Decreased fetal movement	1/3	OMIM:618186
8506	CNTNAP1	HP:0001558	Decreased fetal movement	-	OMIM:616286
8506	CNTNAP1	HP:0000365	Hearing impairment	-	OMIM:618186
8506	CNTNAP1	HP:0000369	Low-set ears	-	OMIM:618186
8506	CNTNAP1	HP:0000338	Hypomimic face	1/3	OMIM:618186
8506	CNTNAP1	HP:0000347	Micrognathia	1/4	OMIM:616286
8506	CNTNAP1	HP:0000347	Micrognathia	-	OMIM:618186
8506	CNTNAP1	HP:0012471	Thick vermilion border	1/3	OMIM:618186
8506	CNTNAP1	HP:0001776	Bilateral talipes equinovarus	1/3	OMIM:618186
8506	CNTNAP1	HP:0001760	Abnormal foot morphology	-	OMIM:618186
8506	CNTNAP1	HP:0000508	Ptosis	1/3	OMIM:618186
8506	CNTNAP1	HP:0000505	Visual impairment	-	OMIM:618186
8510	MMP23B	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0002465	Poor speech	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0001107	Ocular albinism	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0008551	Microtia	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0001250	Seizure	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0001252	Hypotonia	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0002591	Polyphagia	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000055	Abnormal female external genitalia morphology	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000047	Hypospadias	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0001344	Absent speech	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0002650	Scoliosis	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000160	Narrow mouth	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0000135	Hypogonadism	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000107	Renal cyst	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0002019	Constipation	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0002015	Dysphagia	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0002242	Abnormal intestine morphology	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0001009	Telangiectasia	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0008499	High hypermetropia	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000639	Nystagmus	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0004322	Short stature	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0004378	Abnormality of the anus	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0012733	Macule	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0000717	Autism	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0003198	Myopathy	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000902	Rib fusion	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000878	11 pairs of ribs	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000892	Bifid ribs	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000286	Epicanthus	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0002808	Kyphosis	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000252	Microcephaly	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0000248	Brachycephaly	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0001508	Failure to thrive	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0001513	Obesity	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000343	Long philtrum	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000307	Pointed chin	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0001734	Annular pancreas	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0000486	Strabismus	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0000490	Deeply set eye	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0000464	Abnormality of the neck	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0001773	Short foot	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0001743	Abnormality of the spleen	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0000518	Cataract	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000505	Visual impairment	HP:0040283	ORPHA:1606
8510	MMP23B	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1606
8510	MMP23B	HP:0011228	Horizontal eyebrow	HP:0040281	ORPHA:1606
8510	MMP23B	HP:0000534	Abnormal eyebrow morphology	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0002465	Poor speech	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0001107	Ocular albinism	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0008551	Microtia	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0001250	Seizure	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0001252	Hypotonia	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0002591	Polyphagia	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000055	Abnormal female external genitalia morphology	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000047	Hypospadias	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0001344	Absent speech	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
8514	KCNAB2	HP:0002650	Scoliosis	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000160	Narrow mouth	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0000135	Hypogonadism	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000107	Renal cyst	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0002019	Constipation	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0002015	Dysphagia	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0002242	Abnormal intestine morphology	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0001009	Telangiectasia	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0008499	High hypermetropia	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000639	Nystagmus	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0004322	Short stature	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0004378	Abnormality of the anus	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0012733	Macule	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0000717	Autism	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0003198	Myopathy	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000902	Rib fusion	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000878	11 pairs of ribs	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000892	Bifid ribs	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
8514	KCNAB2	HP:0000286	Epicanthus	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0002808	Kyphosis	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000252	Microcephaly	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0000248	Brachycephaly	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0001513	Obesity	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000343	Long philtrum	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0001664	Torsade de pointes	1/46	OMIM:115000
8514	KCNAB2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0001645	Sudden cardiac death	-	OMIM:115000
8514	KCNAB2	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0001663	Ventricular fibrillation	-	OMIM:115000
8514	KCNAB2	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000307	Pointed chin	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
8514	KCNAB2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
8514	KCNAB2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0001734	Annular pancreas	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0000486	Strabismus	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0000490	Deeply set eye	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0000464	Abnormality of the neck	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0001773	Short foot	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0001743	Abnormality of the spleen	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0000518	Cataract	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000505	Visual impairment	HP:0040283	ORPHA:1606
8514	KCNAB2	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1606
8514	KCNAB2	HP:0011228	Horizontal eyebrow	HP:0040281	ORPHA:1606
8514	KCNAB2	HP:0000534	Abnormal eyebrow morphology	HP:0040282	ORPHA:1606
8516	ITGA8	HP:0010958	Bilateral renal agenesis	4/4	OMIM:191830
8516	ITGA8	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1848
8516	ITGA8	HP:0000093	Proteinuria	-	OMIM:191830
8516	ITGA8	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:1848
8516	ITGA8	HP:0000007	Autosomal recessive inheritance	-	OMIM:191830
8516	ITGA8	HP:0000175	Cleft palate	HP:0040283	ORPHA:1848
8516	ITGA8	HP:0000148	Vaginal atresia	-	OMIM:191830
8516	ITGA8	HP:0000110	Renal dysplasia	-	OMIM:191830
8516	ITGA8	HP:0000104	Renal agenesis	HP:0040281	ORPHA:1848
8516	ITGA8	HP:0002009	Potter facies	3/3	OMIM:191830
8516	ITGA8	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:1848
8516	ITGA8	HP:0002089	Pulmonary hypoplasia	2/3	OMIM:191830
8516	ITGA8	HP:0100589	Urogenital fistula	HP:0040282	ORPHA:1848
8516	ITGA8	HP:0010497	Sirenomelia	HP:0040283	ORPHA:1848
8516	ITGA8	HP:0003577	Congenital onset	4/4	OMIM:191830
8516	ITGA8	HP:0002242	Abnormal intestine morphology	HP:0040282	ORPHA:1848
8516	ITGA8	HP:0001958	Nonketotic hypoglycemia	HP:0040281	ORPHA:1848
8516	ITGA8	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1848
8516	ITGA8	HP:0000786	Primary amenorrhea	-	OMIM:191830
8516	ITGA8	HP:0100335	Non-midline cleft of the upper lip	HP:0040283	ORPHA:1848
8516	ITGA8	HP:0000813	Bicornuate uterus	-	OMIM:191830
8516	ITGA8	HP:0000822	Hypertension	-	OMIM:191830
8516	ITGA8	HP:0000286	Epicanthus	HP:0040281	ORPHA:1848
8516	ITGA8	HP:0000278	Retrognathia	-	OMIM:191830
8516	ITGA8	HP:0005107	Abnormal sacrum morphology	HP:0040282	ORPHA:1848
8516	ITGA8	HP:0001562	Oligohydramnios	HP:0040281	ORPHA:1848
8516	ITGA8	HP:0001562	Oligohydramnios	-	OMIM:191830
8516	ITGA8	HP:0001563	Fetal polyuria	HP:0040282	ORPHA:1848
8516	ITGA8	HP:0000369	Low-set ears	HP:0040281	ORPHA:1848
8516	ITGA8	HP:0000369	Low-set ears	-	OMIM:191830
8516	ITGA8	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1848
8516	ITGA8	HP:0000316	Hypertelorism	-	OMIM:191830
8516	ITGA8	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:1848
8516	ITGA8	HP:0001762	Talipes equinovarus	3/3	OMIM:191830
8516	ITGA8	HP:0025700	Anhydramnios	4/4	OMIM:191830
8517	IKBKG	HP:0033581	Absent peripheral lymph nodes in presence of infection	HP:0040282	ORPHA:98813
8517	IKBKG	HP:0410242	Abnormal circulating IgG concentration	-	OMIM:300291
8517	IKBKG	HP:0032283	Disseminated nontuberculous mycobacterial infection	-	OMIM:300636
8517	IKBKG	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8517	IKBKG	HP:0001293	Cranial nerve compression	-	OMIM:131300
8517	IKBKG	HP:0100828	Increased total T cell count	HP:0040282	ORPHA:98813
8517	IKBKG	HP:0001288	Gait disturbance	HP:0040282	ORPHA:464
8517	IKBKG	HP:0001250	Seizure	3/11	OMIM:308300
8517	IKBKG	HP:0001250	Seizure	HP:0040283	ORPHA:464
8517	IKBKG	HP:0001252	Hypotonia	HP:0040283	ORPHA:464
8517	IKBKG	HP:0001252	Hypotonia	2/7	OMIM:615777
8517	IKBKG	HP:0001249	Intellectual disability	-	OMIM:308300
8517	IKBKG	HP:0001249	Intellectual disability	HP:0040283	ORPHA:464
8517	IKBKG	HP:0001249	Intellectual disability	5/7	OMIM:615777
8517	IKBKG	HP:0001263	Global developmental delay	HP:0040283	ORPHA:464
8517	IKBKG	HP:0001263	Global developmental delay	-	OMIM:615777
8517	IKBKG	HP:0001257	Spasticity	HP:0040283	ORPHA:464
8517	IKBKG	HP:0001257	Spasticity	-	OMIM:308300
8517	IKBKG	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:464
8517	IKBKG	HP:0002557	Hypoplastic nipples	-	OMIM:308300
8517	IKBKG	HP:0002558	Supernumerary nipple	HP:0040282	ORPHA:464
8517	IKBKG	HP:0002558	Supernumerary nipple	-	OMIM:308300
8517	IKBKG	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:464
8517	IKBKG	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:464
8517	IKBKG	HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	1/4	OMIM:301081
8517	IKBKG	HP:0010978	Abnormality of immune system physiology	HP:0040282	ORPHA:464
8517	IKBKG	HP:0010976	Decreased total B cell count	4/4	OMIM:301081
8517	IKBKG	HP:0002515	Waddling gait	54/102	OMIM:131300
8517	IKBKG	HP:0001382	Joint hypermobility	-	OMIM:615777
8517	IKBKG	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8517	IKBKG	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8517	IKBKG	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:98813
8517	IKBKG	HP:0031188	Genital edema	HP:0040283	ORPHA:98813
8517	IKBKG	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8517	IKBKG	HP:0001324	Muscle weakness	40/96	OMIM:131300
8517	IKBKG	HP:0001342	Cerebral hemorrhage	3/3	OMIM:301081
8517	IKBKG	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8517	IKBKG	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8517	IKBKG	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8517	IKBKG	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:464
8517	IKBKG	HP:0002650	Scoliosis	HP:0040282	ORPHA:464
8517	IKBKG	HP:0002650	Scoliosis	12/14	OMIM:131300
8517	IKBKG	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8517	IKBKG	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8517	IKBKG	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8517	IKBKG	HP:0012177	Abnormal natural killer cell physiology	7/7	OMIM:300291
8517	IKBKG	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8517	IKBKG	HP:0000175	Cleft palate	2/7	OMIM:615777
8517	IKBKG	HP:0002797	Osteolysis	HP:0040282	ORPHA:464
8517	IKBKG	HP:0012121	Panuveitis	1/3	OMIM:301081
8517	IKBKG	HP:0012122	Anterior uveitis	3/7	OMIM:301081
8517	IKBKG	HP:0001423	X-linked dominant inheritance	-	OMIM:308300
8517	IKBKG	HP:0002754	Osteomyelitis	1/3	OMIM:301081
8517	IKBKG	HP:0001433	Hepatosplenomegaly	3/3	OMIM:301081
8517	IKBKG	HP:0002751	Kyphoscoliosis	-	OMIM:308300
8517	IKBKG	HP:0001419	X-linked recessive inheritance	-	OMIM:300636
8517	IKBKG	HP:0001419	X-linked recessive inheritance	-	OMIM:300291
8517	IKBKG	HP:0001417	X-linked inheritance	-	OMIM:301081
8517	IKBKG	HP:0002718	Recurrent bacterial infections	2/2	OMIM:300636
8517	IKBKG	HP:0002718	Recurrent bacterial infections	7/7	OMIM:300291
8517	IKBKG	HP:0002718	Recurrent bacterial infections	HP:0040281	ORPHA:98813
8517	IKBKG	HP:0002728	Chronic mucocutaneous candidiasis	HP:0040282	ORPHA:98813
8517	IKBKG	HP:0002720	Decreased circulating IgA concentration	HP:0040283	ORPHA:98813
8517	IKBKG	HP:0002721	Immunodeficiency	1/1	OMIM:300636
8517	IKBKG	HP:0002721	Immunodeficiency	-	OMIM:300291
8517	IKBKG	HP:0002037	Inflammation of the large intestine	HP:0040282	ORPHA:98813
8517	IKBKG	HP:0002028	Chronic diarrhea	HP:0040282	ORPHA:98813
8517	IKBKG	HP:0002007	Frontal bossing	1/1	OMIM:300291
8517	IKBKG	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:464
8517	IKBKG	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:464
8517	IKBKG	HP:0100555	Asymmetric growth	HP:0040282	ORPHA:464
8517	IKBKG	HP:0003388	Easy fatigability	36/76	OMIM:131300
8517	IKBKG	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8517	IKBKG	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:464
8517	IKBKG	HP:0005922	Abnormal hand morphology	HP:0040282	ORPHA:464
8517	IKBKG	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:464
8517	IKBKG	HP:0002164	Nail dysplasia	-	OMIM:308300
8517	IKBKG	HP:0003496	Increased circulating IgM level	3/8	OMIM:300291
8517	IKBKG	HP:0003496	Increased circulating IgM level	HP:0040283	ORPHA:98813
8517	IKBKG	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:464
8517	IKBKG	HP:0003593	Infantile onset	3/3	OMIM:301081
8517	IKBKG	HP:0003593	Infantile onset	1/1	OMIM:300636
8517	IKBKG	HP:0003577	Congenital onset	11/11	OMIM:308300
8517	IKBKG	HP:0002213	Fine hair	-	OMIM:308300
8517	IKBKG	HP:0002208	Coarse hair	-	OMIM:308300
8517	IKBKG	HP:0100783	Breast aplasia	-	OMIM:308300
8517	IKBKG	HP:0008402	Ridged fingernail	HP:0040283	ORPHA:464
8517	IKBKG	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:98813
8517	IKBKG	HP:0008404	Nail dystrophy	-	OMIM:308300
8517	IKBKG	HP:0010701	Abnormal circulating immunoglobulin concentration	HP:0040281	ORPHA:98813
8517	IKBKG	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:464
8517	IKBKG	HP:0003510	Severe short stature	7/7	OMIM:615777
8517	IKBKG	HP:0008388	Abnormal toenail morphology	HP:0040283	ORPHA:464
8517	IKBKG	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:464
8517	IKBKG	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:464
8517	IKBKG	HP:0001004	Lymphedema	1/1	OMIM:300291
8517	IKBKG	HP:0002315	Headache	-	OMIM:131300
8517	IKBKG	HP:0004976	Knee dislocation	6/7	OMIM:615777
8517	IKBKG	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:464
8517	IKBKG	HP:0001000	Abnormality of skin pigmentation	-	OMIM:308300
8517	IKBKG	HP:0100653	Optic neuritis	1/3	OMIM:301081
8517	IKBKG	HP:0200043	Verrucae	HP:0040281	ORPHA:464
8517	IKBKG	HP:0009803	Short phalanx of finger	-	OMIM:615777
8517	IKBKG	HP:0200042	Skin ulcer	HP:0040282	ORPHA:464
8517	IKBKG	HP:0010783	Erythema	HP:0040281	ORPHA:464
8517	IKBKG	HP:0010783	Erythema	-	OMIM:308300
8517	IKBKG	HP:0020101	Invasive fungal infection	HP:0040283	ORPHA:98813
8517	IKBKG	HP:0020102	Pneumocystis jirovecii pneumonia	1/1	OMIM:300636
8517	IKBKG	HP:0032163	Molluscum contagiosum	3/8	OMIM:300291
8517	IKBKG	HP:0100699	Scarring	-	OMIM:308300
8517	IKBKG	HP:0010741	Pedal edema	HP:0040283	ORPHA:98813
8517	IKBKG	HP:0009763	Limb pain	63/92	OMIM:131300
8517	IKBKG	HP:0003621	Juvenile onset	-	OMIM:131300
8517	IKBKG	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8517	IKBKG	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8517	IKBKG	HP:6001056	Out-toeing	-	OMIM:131300
8517	IKBKG	HP:0000651	Diplopia	-	OMIM:131300
8517	IKBKG	HP:0000648	Optic atrophy	-	OMIM:308300
8517	IKBKG	HP:0001974	Increased total leukocyte count	-	OMIM:308300
8517	IKBKG	HP:0001956	Truncal obesity	2/7	OMIM:615777
8517	IKBKG	HP:0001903	Anemia	HP:0040283	OMIM:131300
8517	IKBKG	HP:0010049	Short metacarpal	-	OMIM:615777
8517	IKBKG	HP:0000698	Conical tooth	4/5	OMIM:300636
8517	IKBKG	HP:0000698	Conical tooth	1/3	OMIM:301081
8517	IKBKG	HP:0000698	Conical tooth	3/11	OMIM:308300
8517	IKBKG	HP:0000698	Conical tooth	HP:0040281	ORPHA:98813
8517	IKBKG	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:464
8517	IKBKG	HP:0000684	Delayed eruption of teeth	0/1	OMIM:300636
8517	IKBKG	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:464
8517	IKBKG	HP:0000684	Delayed eruption of teeth	-	OMIM:308300
8517	IKBKG	HP:0000678	Dental crowding	-	OMIM:615777
8517	IKBKG	HP:0000677	Oligodontia	2/11	OMIM:308300
8517	IKBKG	HP:0000670	Carious teeth	-	OMIM:131300
8517	IKBKG	HP:0011304	Broad thumb	2/7	OMIM:615777
8517	IKBKG	HP:0000668	Hypodontia	1/3	OMIM:300636
8517	IKBKG	HP:0000668	Hypodontia	-	OMIM:615777
8517	IKBKG	HP:0000668	Hypodontia	HP:0040281	ORPHA:464
8517	IKBKG	HP:0000668	Hypodontia	5/11	OMIM:308300
8517	IKBKG	HP:0000664	Synophrys	-	OMIM:615777
8517	IKBKG	HP:0004322	Short stature	-	OMIM:308300
8517	IKBKG	HP:0004322	Short stature	HP:0040282	ORPHA:464
8517	IKBKG	HP:0004315	Decreased circulating IgG concentration	HP:0040283	ORPHA:98813
8517	IKBKG	HP:0004315	Decreased circulating IgG concentration	3/4	OMIM:301081
8517	IKBKG	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040283	ORPHA:98813
8517	IKBKG	HP:0004313	Decreased circulating immunoglobulin concentration	3/3	OMIM:301081
8517	IKBKG	HP:0004396	Poor appetite	-	OMIM:131300
8517	IKBKG	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8517	IKBKG	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8517	IKBKG	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:464
8517	IKBKG	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8517	IKBKG	HP:0003026	Short long bone	7/7	OMIM:615777
8517	IKBKG	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8517	IKBKG	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8517	IKBKG	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8517	IKBKG	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8517	IKBKG	HP:0000750	Delayed speech and language development	-	OMIM:615777
8517	IKBKG	HP:0011461	Fetal onset	7/7	OMIM:615777
8517	IKBKG	HP:0000774	Narrow chest	2/7	OMIM:615777
8517	IKBKG	HP:0000926	Platyspondyly	1/7	OMIM:615777
8517	IKBKG	HP:0003187	Breast hypoplasia	-	OMIM:308300
8517	IKBKG	HP:0003180	Flat acetabular roof	-	OMIM:615777
8517	IKBKG	HP:0004482	Relative macrocephaly	-	OMIM:615777
8517	IKBKG	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8517	IKBKG	HP:0000823	Delayed puberty	-	OMIM:131300
8517	IKBKG	HP:0040042	Aplasia of the eccrine sweat glands	1/1	OMIM:300291
8517	IKBKG	HP:0040075	Hypopituitarism	HP:0040283	ORPHA:98813
8517	IKBKG	HP:0000894	Short clavicles	-	OMIM:615777
8517	IKBKG	HP:0003237	Increased circulating IgG concentration	HP:0040283	ORPHA:98813
8517	IKBKG	HP:0003212	Increased circulating IgE concentration	HP:0040283	ORPHA:98813
8517	IKBKG	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8517	IKBKG	HP:0004529	Atrophic, patchy alopecia	-	OMIM:308300
8517	IKBKG	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:464
8517	IKBKG	HP:0003261	Increased circulating IgA concentration	1/2	OMIM:300636
8517	IKBKG	HP:0003261	Increased circulating IgA concentration	5/6	OMIM:300291
8517	IKBKG	HP:0000980	Pallor	-	OMIM:308300
8517	IKBKG	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:464
8517	IKBKG	HP:0000988	Skin rash	HP:0040281	ORPHA:464
8517	IKBKG	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8517	IKBKG	HP:0000968	Ectodermal dysplasia	-	OMIM:300291
8517	IKBKG	HP:0000968	Ectodermal dysplasia	HP:0040281	ORPHA:98813
8517	IKBKG	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:98813
8517	IKBKG	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:98813
8517	IKBKG	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:464
8517	IKBKG	HP:0000962	Hyperkeratosis	-	OMIM:308300
8517	IKBKG	HP:0000938	Osteopenia	HP:0040283	ORPHA:98813
8517	IKBKG	HP:0005815	Supernumerary ribs	HP:0040282	ORPHA:464
8517	IKBKG	HP:0005815	Supernumerary ribs	-	OMIM:308300
8517	IKBKG	HP:0008070	Sparse hair	HP:0040281	ORPHA:98813
8517	IKBKG	HP:0008070	Sparse hair	1/1	OMIM:300291
8517	IKBKG	HP:0008070	Sparse hair	-	OMIM:308300
8517	IKBKG	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:464
8517	IKBKG	HP:0008066	Abnormal blistering of the skin	10/11	OMIM:308300
8517	IKBKG	HP:0040186	Maculopapular exanthema	1/11	OMIM:308300
8517	IKBKG	HP:0000286	Epicanthus	1/7	OMIM:615777
8517	IKBKG	HP:0000280	Coarse facial features	2/7	OMIM:615777
8517	IKBKG	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:464
8517	IKBKG	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:464
8517	IKBKG	HP:0001596	Alopecia	HP:0040282	ORPHA:464
8517	IKBKG	HP:0001596	Alopecia	2/11	OMIM:308300
8517	IKBKG	HP:0007750	Hypoplasia of the fovea	-	OMIM:308300
8517	IKBKG	HP:0002827	Hip dislocation	3/7	OMIM:615777
8517	IKBKG	HP:0000252	Microcephaly	-	OMIM:308300
8517	IKBKG	HP:0000252	Microcephaly	-	OMIM:615777
8517	IKBKG	HP:0002857	Genu valgum	-	OMIM:131300
8517	IKBKG	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:464
8517	IKBKG	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:464
8517	IKBKG	HP:0001533	Slender build	-	OMIM:131300
8517	IKBKG	HP:0001508	Failure to thrive	HP:0040281	ORPHA:98813
8517	IKBKG	HP:0002850	Decreased circulating total IgM	1/2	OMIM:300636
8517	IKBKG	HP:0002850	Decreased circulating total IgM	2/4	OMIM:301081
8517	IKBKG	HP:0002850	Decreased circulating total IgM	HP:0040283	ORPHA:98813
8517	IKBKG	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8517	IKBKG	HP:0001510	Growth delay	HP:0040281	ORPHA:98813
8517	IKBKG	HP:0007807	Optic nerve compression	-	OMIM:131300
8517	IKBKG	HP:0011065	Conical incisor	1/1	OMIM:300291
8517	IKBKG	HP:0012368	Flat face	7/7	OMIM:615777
8517	IKBKG	HP:0007850	Retinal vascular proliferation	HP:0040283	ORPHA:464
8517	IKBKG	HP:0007850	Retinal vascular proliferation	-	OMIM:308300
8517	IKBKG	HP:0002937	Hemivertebrae	-	OMIM:308300
8517	IKBKG	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8517	IKBKG	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:464
8517	IKBKG	HP:0000365	Hearing impairment	10/67	OMIM:131300
8517	IKBKG	HP:0000364	Hearing abnormality	HP:0040282	ORPHA:464
8517	IKBKG	HP:0000343	Long philtrum	1/7	OMIM:615777
8517	IKBKG	HP:0011001	Increased bone mineral density	-	OMIM:131300
8517	IKBKG	HP:0000311	Round face	2/7	OMIM:615777
8517	IKBKG	HP:0002960	Autoimmunity	HP:0040283	ORPHA:98813
8517	IKBKG	HP:0002961	Dysgammaglobulinemia	-	OMIM:300291
8517	IKBKG	HP:0002970	Genu varum	-	OMIM:615777
8517	IKBKG	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:464
8517	IKBKG	HP:0000303	Mandibular prognathia	-	OMIM:131300
8517	IKBKG	HP:0007957	Corneal opacity	HP:0040282	ORPHA:464
8517	IKBKG	HP:0012490	Panniculitis	3/3	OMIM:301081
8517	IKBKG	HP:0004050	Absent hand	HP:0040283	ORPHA:464
8517	IKBKG	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:98813
8517	IKBKG	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8517	IKBKG	HP:0000486	Strabismus	HP:0040282	ORPHA:464
8517	IKBKG	HP:0000486	Strabismus	6/11	OMIM:308300
8517	IKBKG	HP:0000491	Keratitis	HP:0040283	ORPHA:464
8517	IKBKG	HP:0000491	Keratitis	-	OMIM:308300
8517	IKBKG	HP:0000470	Short neck	1/7	OMIM:615777
8517	IKBKG	HP:0011108	Recurrent sinusitis	HP:0040283	ORPHA:98813
8517	IKBKG	HP:0012424	Chorioretinitis	1/3	OMIM:301081
8517	IKBKG	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8517	IKBKG	HP:0001763	Pes planus	1/7	OMIM:615777
8517	IKBKG	HP:0005404	Increased total B cell count	HP:0040282	ORPHA:98813
8517	IKBKG	HP:0011274	Recurrent mycobacterial infections	HP:0040282	ORPHA:98813
8517	IKBKG	HP:0000518	Cataract	HP:0040283	ORPHA:464
8517	IKBKG	HP:0000518	Cataract	1/11	OMIM:308300
8517	IKBKG	HP:0001840	Metatarsus adductus	-	OMIM:615777
8517	IKBKG	HP:0000520	Proptosis	2/4	OMIM:131300
8517	IKBKG	HP:0000520	Proptosis	7/7	OMIM:615777
8517	IKBKG	HP:0001821	Broad nail	HP:0040283	ORPHA:464
8517	IKBKG	HP:0000505	Visual impairment	HP:0040282	ORPHA:464
8517	IKBKG	HP:0001805	Onychogryphosis	-	OMIM:308300
8517	IKBKG	HP:0001804	Hypoplastic fingernail	HP:0040281	ORPHA:464
8517	IKBKG	HP:0001807	Ridged nail	-	OMIM:308300
8517	IKBKG	HP:0001803	Nail pits	-	OMIM:308300
8517	IKBKG	HP:0004097	Deviation of finger	HP:0040282	ORPHA:464
8517	IKBKG	HP:0001810	Dystrophic toenail	HP:0040283	ORPHA:464
8517	IKBKG	HP:0031691	Severe viral infection	HP:0040283	ORPHA:98813
8517	IKBKG	HP:0031692	Severe cytomegalovirus infection	1/7	OMIM:300291
8517	IKBKG	HP:0000592	Blue sclerae	2/7	OMIM:615777
8517	IKBKG	HP:0000592	Blue sclerae	HP:0040283	ORPHA:464
8517	IKBKG	HP:0000554	Uveitis	HP:0040283	ORPHA:464
8517	IKBKG	HP:0000554	Uveitis	-	OMIM:308300
8517	IKBKG	HP:0000573	Retinal hemorrhage	HP:0040283	ORPHA:464
8517	IKBKG	HP:0000573	Retinal hemorrhage	-	OMIM:308300
8517	IKBKG	HP:0000568	Microphthalmia	HP:0040283	ORPHA:464
8517	IKBKG	HP:0000568	Microphthalmia	-	OMIM:308300
8517	IKBKG	HP:0000541	Retinal detachment	HP:0040283	ORPHA:464
8517	IKBKG	HP:0000541	Retinal detachment	2/11	OMIM:308300
8517	IKBKG	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8517	IKBKG	HP:0000532	Abnormal chorioretinal morphology	HP:0040283	ORPHA:464
8517	IKBKG	HP:0001880	Increased total eosinophil count	HP:0040282	ORPHA:464
8517	IKBKG	HP:0001880	Increased total eosinophil count	-	OMIM:308300
8517	IKBKG	HP:0012514	Lower limb pain	4/4	OMIM:131300
8517	IKBKG	HP:0001875	Decreased total neutrophil count	1/3	OMIM:301081
8518	ELP1	HP:0007328	Impaired pain sensation	HP:0040281	ORPHA:1764
8518	ELP1	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:1764
8518	ELP1	HP:0001100	Heterochromia iridis	HP:0040283	ORPHA:1764
8518	ELP1	HP:0001290	Generalized hypotonia	-	OMIM:223900
8518	ELP1	HP:0001278	Orthostatic hypotension	-	OMIM:223900
8518	ELP1	HP:0001278	Orthostatic hypotension	HP:0040281	ORPHA:1764
8518	ELP1	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:1764
8518	ELP1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:1764
8518	ELP1	HP:0002585	Abnormal peritoneum morphology	HP:0040283	ORPHA:1764
8518	ELP1	HP:0001250	Seizure	HP:0040283	ORPHA:1764
8518	ELP1	HP:0001252	Hypotonia	-	OMIM:223900
8518	ELP1	HP:0001252	Hypotonia	HP:0040282	ORPHA:1764
8518	ELP1	HP:0001251	Ataxia	HP:0040282	ORPHA:1764
8518	ELP1	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:1764
8518	ELP1	HP:0001265	Hyporeflexia	-	OMIM:223900
8518	ELP1	HP:0003829	Typified by incomplete penetrance	-	OMIM:155255
8518	ELP1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:1764
8518	ELP1	HP:0000096	Glomerular sclerosis	-	OMIM:223900
8518	ELP1	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:1764
8518	ELP1	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:1764
8518	ELP1	HP:0008872	Feeding difficulties in infancy	-	OMIM:223900
8518	ELP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:223900
8518	ELP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:155255
8518	ELP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:155255
8518	ELP1	HP:0002650	Scoliosis	-	OMIM:223900
8518	ELP1	HP:0002650	Scoliosis	HP:0040282	ORPHA:1764
8518	ELP1	HP:0002797	Osteolysis	HP:0040283	ORPHA:1764
8518	ELP1	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:1764
8518	ELP1	HP:0001442	Typified by somatic mosaicism	-	OMIM:155255
8518	ELP1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:1764
8518	ELP1	HP:0002020	Gastroesophageal reflux	-	OMIM:223900
8518	ELP1	HP:0002019	Constipation	-	OMIM:223900
8518	ELP1	HP:0002014	Diarrhea	-	OMIM:223900
8518	ELP1	HP:0002013	Vomiting	-	OMIM:223900
8518	ELP1	HP:0005947	Decreased sensitivity to hypoxemia	-	OMIM:223900
8518	ELP1	HP:0002047	Malignant hyperthermia	HP:0040281	ORPHA:1764
8518	ELP1	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	-	OMIM:223900
8518	ELP1	HP:0003457	EMG abnormality	HP:0040281	ORPHA:1764
8518	ELP1	HP:0002103	Abnormal pleura morphology	HP:0040283	ORPHA:1764
8518	ELP1	HP:0003577	Congenital onset	-	OMIM:223900
8518	ELP1	HP:0004891	Recurrent infections due to aspiration	-	OMIM:223900
8518	ELP1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1764
8518	ELP1	HP:0001069	Episodic hyperhidrosis	-	OMIM:223900
8518	ELP1	HP:0001063	Acrocyanosis	-	OMIM:223900
8518	ELP1	HP:0001063	Acrocyanosis	HP:0040283	ORPHA:1764
8518	ELP1	HP:0003676	Progressive	-	OMIM:223900
8518	ELP1	HP:0200020	Corneal erosion	HP:0040282	ORPHA:1764
8518	ELP1	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:1764
8518	ELP1	HP:0002311	Incoordination	-	OMIM:223900
8518	ELP1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1764
8518	ELP1	HP:0000615	Abnormal pupil morphology	HP:0040281	ORPHA:1764
8518	ELP1	HP:0001954	Recurrent fever	-	OMIM:223900
8518	ELP1	HP:0000712	Emotional lability	-	OMIM:223900
8518	ELP1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1764
8518	ELP1	HP:0003138	Increased blood urea nitrogen	-	OMIM:223900
8518	ELP1	HP:0012804	Corneal ulceration	-	OMIM:223900
8518	ELP1	HP:0000822	Hypertension	HP:0040282	ORPHA:1764
8518	ELP1	HP:0000822	Hypertension	-	OMIM:223900
8518	ELP1	HP:0003259	Elevated circulating creatinine concentration	-	OMIM:223900
8518	ELP1	HP:0008000	Decreased corneal reflex	-	OMIM:223900
8518	ELP1	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:1764
8518	ELP1	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:1764
8518	ELP1	HP:6000993	Pupillary hypersensitivity to parasympathomimetic agents	-	OMIM:223900
8518	ELP1	HP:0002821	Neuropathic arthropathy	-	OMIM:223900
8518	ELP1	HP:0012211	Abnormal renal physiology	-	OMIM:223900
8518	ELP1	HP:0000224	Hypogeusia	-	OMIM:223900
8518	ELP1	HP:0002885	Medulloblastoma	-	OMIM:155255
8518	ELP1	HP:0001510	Growth delay	HP:0040281	ORPHA:1764
8518	ELP1	HP:0001510	Growth delay	-	OMIM:223900
8518	ELP1	HP:0002902	Hyponatremia	HP:0040283	ORPHA:1764
8518	ELP1	HP:0001649	Tachycardia	-	OMIM:223900
8518	ELP1	HP:0001649	Tachycardia	HP:0040283	ORPHA:1764
8518	ELP1	HP:0007957	Corneal opacity	HP:0040283	ORPHA:1764
8518	ELP1	HP:0000495	Recurrent corneal erosions	-	OMIM:223900
8518	ELP1	HP:0000522	Alacrima	-	OMIM:223900
8518	ELP1	HP:0000522	Alacrima	HP:0040281	ORPHA:1764
8518	ELP1	HP:0000545	Myopia	HP:0040283	ORPHA:1764
8526	DGKE	HP:0003774	Stage 5 chronic kidney disease	4/9	OMIM:615008
8526	DGKE	HP:0000093	Proteinuria	9/9	OMIM:615008
8526	DGKE	HP:0000007	Autosomal recessive inheritance	-	OMIM:615008
8526	DGKE	HP:0031266	Podocyte foot process effacement	-	OMIM:615008
8526	DGKE	HP:0000100	Nephrotic syndrome	-	OMIM:615008
8526	DGKE	HP:0004722	Thickened glomerular basement membrane	-	OMIM:615008
8526	DGKE	HP:0003593	Infantile onset	1/9	OMIM:615008
8526	DGKE	HP:0003676	Progressive	-	OMIM:615008
8526	DGKE	HP:0003621	Juvenile onset	2/9	OMIM:615008
8526	DGKE	HP:0005575	Hemolytic-uremic syndrome	HP:0040283	OMIM:615008
8526	DGKE	HP:0001919	Acute kidney injury	-	OMIM:615008
8526	DGKE	HP:0003073	Hypoalbuminemia	-	OMIM:615008
8526	DGKE	HP:0011463	Childhood onset	5/9	OMIM:615008
8526	DGKE	HP:0000793	Membranoproliferative glomerulonephritis	9/9	OMIM:615008
8526	DGKE	HP:0025708	Early young adult onset	1/9	OMIM:615008
8526	DGKE	HP:0001878	Hemolytic anemia	HP:0040283	OMIM:615008
8526	DGKE	HP:0001873	Thrombocytopenia	HP:0040283	OMIM:615008
8540	AGPS	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8540	AGPS	HP:0001293	Cranial nerve compression	-	OMIM:131300
8540	AGPS	HP:0001252	Hypotonia	2/7	OMIM:615777
8540	AGPS	HP:0001249	Intellectual disability	5/7	OMIM:615777
8540	AGPS	HP:0001263	Global developmental delay	-	OMIM:615777
8540	AGPS	HP:0002515	Waddling gait	54/102	OMIM:131300
8540	AGPS	HP:0001382	Joint hypermobility	-	OMIM:615777
8540	AGPS	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8540	AGPS	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8540	AGPS	HP:0008873	Disproportionate short-limb short stature	-	OMIM:600121
8540	AGPS	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8540	AGPS	HP:0001324	Muscle weakness	40/96	OMIM:131300
8540	AGPS	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8540	AGPS	HP:0000007	Autosomal recessive inheritance	-	OMIM:600121
8540	AGPS	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8540	AGPS	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8540	AGPS	HP:0002650	Scoliosis	12/14	OMIM:131300
8540	AGPS	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8540	AGPS	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8540	AGPS	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8540	AGPS	HP:0008905	Rhizomelia	-	OMIM:600121
8540	AGPS	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8540	AGPS	HP:0000175	Cleft palate	2/7	OMIM:615777
8540	AGPS	HP:0003388	Easy fatigability	36/76	OMIM:131300
8540	AGPS	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8540	AGPS	HP:0010655	Epiphyseal stippling	-	OMIM:600121
8540	AGPS	HP:0003510	Severe short stature	7/7	OMIM:615777
8540	AGPS	HP:0002315	Headache	-	OMIM:131300
8540	AGPS	HP:0004976	Knee dislocation	6/7	OMIM:615777
8540	AGPS	HP:6000427	Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts	1/1	OMIM:600121
8540	AGPS	HP:0009803	Short phalanx of finger	-	OMIM:615777
8540	AGPS	HP:0009763	Limb pain	63/92	OMIM:131300
8540	AGPS	HP:0003621	Juvenile onset	-	OMIM:131300
8540	AGPS	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8540	AGPS	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8540	AGPS	HP:6001056	Out-toeing	-	OMIM:131300
8540	AGPS	HP:0000651	Diplopia	-	OMIM:131300
8540	AGPS	HP:0001956	Truncal obesity	2/7	OMIM:615777
8540	AGPS	HP:0001903	Anemia	HP:0040283	OMIM:131300
8540	AGPS	HP:0010049	Short metacarpal	-	OMIM:615777
8540	AGPS	HP:0000678	Dental crowding	-	OMIM:615777
8540	AGPS	HP:0000670	Carious teeth	-	OMIM:131300
8540	AGPS	HP:0011304	Broad thumb	2/7	OMIM:615777
8540	AGPS	HP:0000668	Hypodontia	-	OMIM:615777
8540	AGPS	HP:0000664	Synophrys	-	OMIM:615777
8540	AGPS	HP:0004396	Poor appetite	-	OMIM:131300
8540	AGPS	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8540	AGPS	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8540	AGPS	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8540	AGPS	HP:0003026	Short long bone	7/7	OMIM:615777
8540	AGPS	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8540	AGPS	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8540	AGPS	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8540	AGPS	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8540	AGPS	HP:0000750	Delayed speech and language development	-	OMIM:615777
8540	AGPS	HP:0011461	Fetal onset	7/7	OMIM:615777
8540	AGPS	HP:0000774	Narrow chest	2/7	OMIM:615777
8540	AGPS	HP:0000926	Platyspondyly	1/7	OMIM:615777
8540	AGPS	HP:0003180	Flat acetabular roof	-	OMIM:615777
8540	AGPS	HP:0004482	Relative macrocephaly	-	OMIM:615777
8540	AGPS	HP:0005792	Short humerus	-	OMIM:600121
8540	AGPS	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8540	AGPS	HP:0003097	Short femur	-	OMIM:600121
8540	AGPS	HP:0000823	Delayed puberty	-	OMIM:131300
8540	AGPS	HP:0000894	Short clavicles	-	OMIM:615777
8540	AGPS	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8540	AGPS	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8540	AGPS	HP:0000286	Epicanthus	1/7	OMIM:615777
8540	AGPS	HP:0000280	Coarse facial features	2/7	OMIM:615777
8540	AGPS	HP:0002827	Hip dislocation	3/7	OMIM:615777
8540	AGPS	HP:0000252	Microcephaly	-	OMIM:615777
8540	AGPS	HP:0002857	Genu valgum	-	OMIM:131300
8540	AGPS	HP:0001533	Slender build	-	OMIM:131300
8540	AGPS	HP:0001508	Failure to thrive	-	OMIM:600121
8540	AGPS	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8540	AGPS	HP:0007807	Optic nerve compression	-	OMIM:131300
8540	AGPS	HP:0012368	Flat face	7/7	OMIM:615777
8540	AGPS	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8540	AGPS	HP:0000365	Hearing impairment	10/67	OMIM:131300
8540	AGPS	HP:0000343	Long philtrum	1/7	OMIM:615777
8540	AGPS	HP:0011001	Increased bone mineral density	-	OMIM:131300
8540	AGPS	HP:0000311	Round face	2/7	OMIM:615777
8540	AGPS	HP:0002970	Genu varum	-	OMIM:615777
8540	AGPS	HP:0000303	Mandibular prognathia	-	OMIM:131300
8540	AGPS	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8540	AGPS	HP:0000470	Short neck	1/7	OMIM:615777
8540	AGPS	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8540	AGPS	HP:0001763	Pes planus	1/7	OMIM:615777
8540	AGPS	HP:0001840	Metatarsus adductus	-	OMIM:615777
8540	AGPS	HP:0000520	Proptosis	2/4	OMIM:131300
8540	AGPS	HP:0000520	Proptosis	7/7	OMIM:615777
8540	AGPS	HP:0000592	Blue sclerae	2/7	OMIM:615777
8540	AGPS	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8540	AGPS	HP:0012514	Lower limb pain	4/4	OMIM:131300
8542	APOL1	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
8542	APOL1	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:612551
8542	APOL1	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
8542	APOL1	HP:0010982	Polygenic inheritance	-	OMIM:612551
8542	APOL1	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
8542	APOL1	HP:0000097	Focal segmental glomerulosclerosis	-	OMIM:612551
8542	APOL1	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
8542	APOL1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
8542	APOL1	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
8542	APOL1	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
8542	APOL1	HP:0002315	Headache	HP:0040283	ORPHA:656
8542	APOL1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
8542	APOL1	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
8542	APOL1	HP:0001945	Fever	HP:0040283	ORPHA:656
8542	APOL1	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
8542	APOL1	HP:0000737	Irritability	HP:0040283	ORPHA:656
8542	APOL1	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
8542	APOL1	HP:0000969	Edema	HP:0040281	ORPHA:656
8542	APOL1	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
8542	APOL1	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
8546	AP3B1	HP:0001107	Ocular albinism	-	OMIM:608233
8546	AP3B1	HP:0001270	Motor delay	1/1	OMIM:608233
8546	AP3B1	HP:0001256	Intellectual disability, mild	1/1	OMIM:608233
8546	AP3B1	HP:0007384	Aberrant melanosome maturation	-	OMIM:608233
8546	AP3B1	HP:0008807	Acetabular dysplasia	1/1	OMIM:608233
8546	AP3B1	HP:0007513	Generalized hypopigmentation	2/2	OMIM:608233
8546	AP3B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608233
8546	AP3B1	HP:0012177	Abnormal natural killer cell physiology	1/1	OMIM:608233
8546	AP3B1	HP:0007663	Reduced visual acuity	2/2	OMIM:608233
8546	AP3B1	HP:0001433	Hepatosplenomegaly	1/1	OMIM:608233
8546	AP3B1	HP:0002718	Recurrent bacterial infections	1/1	OMIM:608233
8546	AP3B1	HP:0002722	Recurrent abscess formation	1/2	OMIM:608233
8546	AP3B1	HP:0002020	Gastroesophageal reflux	1/1	OMIM:608233
8546	AP3B1	HP:0033222	Inverted CD4:CD8 ratio	1/1	OMIM:608233
8546	AP3B1	HP:0033264	Enlarged platelet dense granules	1/1	OMIM:608233
8546	AP3B1	HP:0033263	Absent platelet dense granules	1/1	OMIM:608233
8546	AP3B1	HP:0003577	Congenital onset	-	OMIM:608233
8546	AP3B1	HP:0002240	Hepatomegaly	1/1	OMIM:608233
8546	AP3B1	HP:0002206	Pulmonary fibrosis	-	OMIM:608233
8546	AP3B1	HP:0004866	Impaired ADP-induced platelet aggregation	1/1	OMIM:608233
8546	AP3B1	HP:0002286	Fair hair	1/1	OMIM:608233
8546	AP3B1	HP:0001022	Albinism	1/1	OMIM:608233
8546	AP3B1	HP:0009098	Chronic oral candidiasis	1/1	OMIM:608233
8546	AP3B1	HP:0000639	Nystagmus	2/2	OMIM:608233
8546	AP3B1	HP:0000613	Photophobia	2/2	OMIM:608233
8546	AP3B1	HP:0011342	Mild global developmental delay	2/2	OMIM:608233
8546	AP3B1	HP:0000670	Carious teeth	2/2	OMIM:608233
8546	AP3B1	HP:0000666	Horizontal nystagmus	1/1	OMIM:608233
8546	AP3B1	HP:0003010	Prolonged bleeding time	1/1	OMIM:608233
8546	AP3B1	HP:0000704	Periodontitis	2/2	OMIM:608233
8546	AP3B1	HP:0040218	Reduced total natural killer cell count	2/2	OMIM:608233
8546	AP3B1	HP:0000286	Epicanthus	1/1	OMIM:608233
8546	AP3B1	HP:0000280	Coarse facial features	2/2	OMIM:608233
8546	AP3B1	HP:0000252	Microcephaly	-	OMIM:608233
8546	AP3B1	HP:0000219	Thin upper lip vermilion	1/1	OMIM:608233
8546	AP3B1	HP:0006532	Recurrent pneumonia	1/2	OMIM:608233
8546	AP3B1	HP:0000358	Posteriorly rotated ears	2/2	OMIM:608233
8546	AP3B1	HP:0000369	Low-set ears	2/2	OMIM:608233
8546	AP3B1	HP:0000343	Long philtrum	1/1	OMIM:608233
8546	AP3B1	HP:0000319	Smooth philtrum	-	OMIM:608233
8546	AP3B1	HP:0000403	Recurrent otitis media	1/1	OMIM:608233
8546	AP3B1	HP:0000486	Strabismus	-	OMIM:608233
8546	AP3B1	HP:0001744	Splenomegaly	3/3	OMIM:608233
8546	AP3B1	HP:0000431	Wide nasal bridge	2/2	OMIM:608233
8546	AP3B1	HP:0000582	Upslanted palpebral fissure	-	OMIM:608233
8546	AP3B1	HP:0001873	Thrombocytopenia	2/2	OMIM:608233
8546	AP3B1	HP:0001875	Decreased total neutrophil count	2/2	OMIM:608233
8547	FCN3	HP:0000007	Autosomal recessive inheritance	-	OMIM:613860
8547	FCN3	HP:0002783	Recurrent lower respiratory tract infections	-	OMIM:613860
8547	FCN3	HP:0002726	Recurrent Staphylococcus aureus infections	1/2	OMIM:613860
8547	FCN3	HP:0002722	Recurrent abscess formation	-	OMIM:613860
8547	FCN3	HP:0033165	Necrotizing enterocolitis	2/2	OMIM:613860
8547	FCN3	HP:0200043	Verrucae	-	OMIM:613860
8550	MAPKAPK5	HP:0001159	Syndactyly	2/3	OMIM:619869
8550	MAPKAPK5	HP:0000076	Vesicoureteral reflux	1/3	OMIM:619869
8550	MAPKAPK5	HP:0000007	Autosomal recessive inheritance	-	OMIM:619869
8550	MAPKAPK5	HP:0001320	Cerebellar vermis hypoplasia	1/3	OMIM:619869
8550	MAPKAPK5	HP:0002079	Hypoplasia of the corpus callosum	2/3	OMIM:619869
8550	MAPKAPK5	HP:0010442	Polydactyly	2/3	OMIM:619869
8550	MAPKAPK5	HP:0002198	Dilated fourth ventricle	1/3	OMIM:619869
8550	MAPKAPK5	HP:0011833	Overhanging nasal tip	2/3	OMIM:619869
8550	MAPKAPK5	HP:0003577	Congenital onset	3/3	OMIM:619869
8550	MAPKAPK5	HP:0002280	Enlarged cisterna magna	1/3	OMIM:619869
8550	MAPKAPK5	HP:0002389	Cavum septum pellucidum	1/3	OMIM:619869
8550	MAPKAPK5	HP:0000639	Nystagmus	2/3	OMIM:619869
8550	MAPKAPK5	HP:0000647	Sclerocornea	1/3	OMIM:619869
8550	MAPKAPK5	HP:0011344	Severe global developmental delay	3/3	OMIM:619869
8550	MAPKAPK5	HP:0004322	Short stature	2/3	OMIM:619869
8550	MAPKAPK5	HP:0006956	Lateral ventricle dilatation	1/3	OMIM:619869
8550	MAPKAPK5	HP:0011555	Double inlet left ventricle	1/3	OMIM:619869
8550	MAPKAPK5	HP:0045075	Sparse eyebrow	2/3	OMIM:619869
8550	MAPKAPK5	HP:0045025	Narrow palpebral fissure	3/3	OMIM:619869
8550	MAPKAPK5	HP:0008070	Sparse hair	2/3	OMIM:619869
8550	MAPKAPK5	HP:0000278	Retrognathia	3/3	OMIM:619869
8550	MAPKAPK5	HP:0000252	Microcephaly	2/3	OMIM:619869
8550	MAPKAPK5	HP:0000218	High palate	1/3	OMIM:619869
8550	MAPKAPK5	HP:0000233	Thin vermilion border	3/3	OMIM:619869
8550	MAPKAPK5	HP:0001508	Failure to thrive	2/3	OMIM:619869
8550	MAPKAPK5	HP:0001518	Small for gestational age	1/3	OMIM:619869
8550	MAPKAPK5	HP:0000365	Hearing impairment	2/3	OMIM:619869
8550	MAPKAPK5	HP:0000341	Narrow forehead	2/3	OMIM:619869
8550	MAPKAPK5	HP:0001643	Patent ductus arteriosus	1/3	OMIM:619869
8550	MAPKAPK5	HP:0001636	Tetralogy of Fallot	1/3	OMIM:619869
8550	MAPKAPK5	HP:0001631	Atrial septal defect	1/3	OMIM:619869
8550	MAPKAPK5	HP:0000518	Cataract	1/3	OMIM:619869
8550	MAPKAPK5	HP:0011220	Prominent forehead	2/3	OMIM:619869
8550	MAPKAPK5	HP:0000543	Optic disc pallor	1/3	OMIM:619869
8556	CDC14A	HP:0000007	Autosomal recessive inheritance	-	OMIM:608653
8556	CDC14A	HP:0003577	Congenital onset	7/7	OMIM:608653
8556	CDC14A	HP:0012864	Abnormal sperm morphology	4/4	OMIM:608653
8556	CDC14A	HP:0003251	Male infertility	5/8	OMIM:608653
8556	CDC14A	HP:0012208	Immotile sperm	-	OMIM:608653
8556	CDC14A	HP:0000407	Sensorineural hearing impairment	-	OMIM:608653
8557	TCAP	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
8557	TCAP	HP:0001288	Gait disturbance	-	OMIM:601954
8557	TCAP	HP:0002522	Areflexia of lower limbs	-	OMIM:601954
8557	TCAP	HP:0003805	Rimmed vacuoles	-	OMIM:601954
8557	TCAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:601954
8557	TCAP	HP:0000006	Autosomal dominant inheritance	-	OMIM:607487
8557	TCAP	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
8557	TCAP	HP:0008994	Proximal muscle weakness in lower limbs	-	OMIM:601954
8557	TCAP	HP:0008997	Proximal muscle weakness in upper limbs	-	OMIM:601954
8557	TCAP	HP:0008981	Calf muscle hypertrophy	-	OMIM:601954
8557	TCAP	HP:0008948	Proximal upper limb amyotrophy	-	OMIM:601954
8557	TCAP	HP:0008944	Distal lower limb amyotrophy	-	OMIM:601954
8557	TCAP	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
8557	TCAP	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
8557	TCAP	HP:0003581	Adult onset	2/2	OMIM:607487
8557	TCAP	HP:0003551	Difficulty climbing stairs	-	OMIM:601954
8557	TCAP	HP:0003560	Muscular dystrophy	-	OMIM:601954
8557	TCAP	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:601954
8557	TCAP	HP:0009053	Distal lower limb muscle weakness	-	OMIM:601954
8557	TCAP	HP:0009046	Difficulty running	-	OMIM:601954
8557	TCAP	HP:0009025	Increased connective tissue	-	OMIM:601954
8557	TCAP	HP:0009027	Foot dorsiflexor weakness	-	OMIM:601954
8557	TCAP	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
8557	TCAP	HP:0003198	Myopathy	HP:0040283	ORPHA:154
8557	TCAP	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:601954
8557	TCAP	HP:0000969	Edema	HP:0040282	ORPHA:154
8557	TCAP	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
8557	TCAP	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
8557	TCAP	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
8557	TCAP	HP:0012378	Fatigue	HP:0040282	ORPHA:154
8557	TCAP	HP:0001664	Torsade de pointes	1/46	OMIM:115000
8557	TCAP	HP:0001645	Sudden cardiac death	-	OMIM:115000
8557	TCAP	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
8557	TCAP	HP:0001663	Ventricular fibrillation	-	OMIM:115000
8557	TCAP	HP:0001639	Hypertrophic cardiomyopathy	2/2	OMIM:607487
8557	TCAP	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
8557	TCAP	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
8557	TCAP	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
8557	TCAP	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
8557	TCAP	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
8557	TCAP	HP:0001716	Wolff-Parkinson-White syndrome	1/2	OMIM:607487
8557	TCAP	HP:0001712	Left ventricular hypertrophy	2/2	OMIM:607487
8558	CDK10	HP:0001290	Generalized hypotonia	-	OMIM:617694
8558	CDK10	HP:0001250	Seizure	2/9	OMIM:617694
8558	CDK10	HP:0001249	Intellectual disability	9/9	OMIM:617694
8558	CDK10	HP:0001263	Global developmental delay	9/9	OMIM:617694
8558	CDK10	HP:0007413	Nevus flammeus of the forehead	3/9	OMIM:617694
8558	CDK10	HP:0001382	Joint hypermobility	2/2	OMIM:617694
8558	CDK10	HP:0008897	Postnatal growth retardation	8/9	OMIM:617694
8558	CDK10	HP:0006191	Deep palmar crease	4/9	OMIM:617694
8558	CDK10	HP:0025300	Malar rash	3/9	OMIM:617694
8558	CDK10	HP:0033725	Thin corpus callosum	2/7	OMIM:617694
8558	CDK10	HP:0000007	Autosomal recessive inheritance	-	OMIM:617694
8558	CDK10	HP:0002705	High, narrow palate	4/9	OMIM:617694
8558	CDK10	HP:0007598	Bilateral single transverse palmar creases	1/9	OMIM:617694
8558	CDK10	HP:0002079	Hypoplasia of the corpus callosum	HP:0040284	OMIM:617694
8558	CDK10	HP:0002119	Ventriculomegaly	1/8	OMIM:617694
8558	CDK10	HP:0002136	Broad-based gait	2/9	OMIM:617694
8558	CDK10	HP:0003577	Congenital onset	9/9	OMIM:617694
8558	CDK10	HP:0430046	Small joint hypermobilty	3/9	OMIM:617694
8558	CDK10	HP:0200055	Small hand	8/9	OMIM:617694
8558	CDK10	HP:0010055	Broad hallux	2/9	OMIM:617694
8558	CDK10	HP:0000664	Synophrys	1/9	OMIM:617694
8558	CDK10	HP:0004325	Decreased body weight	4/9	OMIM:617694
8558	CDK10	HP:0004322	Short stature	8/9	OMIM:617694
8558	CDK10	HP:0031936	Delayed ability to walk	9/9	OMIM:617694
8558	CDK10	HP:0000752	Hyperactivity	2/9	OMIM:617694
8558	CDK10	HP:0000750	Delayed speech and language development	9/9	OMIM:617694
8558	CDK10	HP:0000960	Sacral dimple	5/9	OMIM:617694
8558	CDK10	HP:0040195	Decreased head circumference	-	OMIM:617694
8558	CDK10	HP:0000286	Epicanthus	9/9	OMIM:617694
8558	CDK10	HP:0000272	Malar flattening	1/9	OMIM:617694
8558	CDK10	HP:0030084	Clinodactyly	1/9	OMIM:617694
8558	CDK10	HP:0001572	Macrodontia	2/9	OMIM:617694
8558	CDK10	HP:0000252	Microcephaly	6/9	OMIM:617694
8558	CDK10	HP:0000248	Brachycephaly	1/9	OMIM:617694
8558	CDK10	HP:0000219	Thin upper lip vermilion	-	OMIM:617694
8558	CDK10	HP:0000218	High palate	4/9	OMIM:617694
8558	CDK10	HP:0001511	Intrauterine growth retardation	5/9	OMIM:617694
8558	CDK10	HP:0000377	Abnormal pinna morphology	-	OMIM:617694
8558	CDK10	HP:0002937	Hemivertebrae	-	OMIM:617694
8558	CDK10	HP:0000358	Posteriorly rotated ears	9/9	OMIM:617694
8558	CDK10	HP:0000369	Low-set ears	9/9	OMIM:617694
8558	CDK10	HP:0000343	Long philtrum	9/9	OMIM:617694
8558	CDK10	HP:0000319	Smooth philtrum	4/9	OMIM:617694
8558	CDK10	HP:0000316	Hypertelorism	-	OMIM:617694
8558	CDK10	HP:0000331	Short chin	5/9	OMIM:617694
8558	CDK10	HP:0000325	Triangular face	4/9	OMIM:617694
8558	CDK10	HP:0000307	Pointed chin	2/9	OMIM:617694
8558	CDK10	HP:0001631	Atrial septal defect	2/19	OMIM:617694
8558	CDK10	HP:0005280	Depressed nasal bridge	6/9	OMIM:617694
8558	CDK10	HP:0000486	Strabismus	1/9	OMIM:617694
8558	CDK10	HP:0000494	Downslanted palpebral fissures	4/9	OMIM:617694
8558	CDK10	HP:0000455	Broad nasal tip	9/9	OMIM:617694
8558	CDK10	HP:0000473	Torticollis	2/9	OMIM:617694
8558	CDK10	HP:0001763	Pes planus	3/9	OMIM:617694
8558	CDK10	HP:0000431	Wide nasal bridge	3/9	OMIM:617694
8558	CDK10	HP:0000506	Telecanthus	7/9	OMIM:617694
8560	DEGS1	HP:0001272	Cerebellar atrophy	-	OMIM:618404
8560	DEGS1	HP:0001250	Seizure	12/19	OMIM:618404
8560	DEGS1	HP:0001260	Dysarthria	-	OMIM:618404
8560	DEGS1	HP:0001263	Global developmental delay	19/19	OMIM:618404
8560	DEGS1	HP:0001257	Spasticity	18/19	OMIM:618404
8560	DEGS1	HP:0007366	Atrophy/Degeneration affecting the brainstem	-	OMIM:618404
8560	DEGS1	HP:0002518	Abnormal periventricular white matter morphology	-	OMIM:618404
8560	DEGS1	HP:0003828	Variable expressivity	-	OMIM:618404
8560	DEGS1	HP:0002510	Spastic tetraplegia	-	OMIM:618404
8560	DEGS1	HP:0001371	Flexion contracture	-	OMIM:618404
8560	DEGS1	HP:0001332	Dystonia	-	OMIM:618404
8560	DEGS1	HP:0001344	Absent speech	13/19	OMIM:618404
8560	DEGS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618404
8560	DEGS1	HP:0001310	Dysmetria	-	OMIM:618404
8560	DEGS1	HP:0002650	Scoliosis	-	OMIM:618404
8560	DEGS1	HP:0003487	Babinski sign	-	OMIM:618404
8560	DEGS1	HP:0002191	Progressive spasticity	-	OMIM:618404
8560	DEGS1	HP:0011968	Feeding difficulties	-	OMIM:618404
8560	DEGS1	HP:0003676	Progressive	-	OMIM:618404
8560	DEGS1	HP:0007108	Demyelinating peripheral neuropathy	HP:0040284	OMIM:618404
8560	DEGS1	HP:0000639	Nystagmus	12/19	OMIM:618404
8560	DEGS1	HP:0011344	Severe global developmental delay	-	OMIM:618404
8560	DEGS1	HP:0000762	Decreased nerve conduction velocity	HP:0040284	OMIM:618404
8560	DEGS1	HP:0000750	Delayed speech and language development	19/19	OMIM:618404
8560	DEGS1	HP:0011471	Gastrostomy tube feeding in infancy	8/19	OMIM:618404
8560	DEGS1	HP:0040131	Abnormal motor nerve conduction velocity	5/12	OMIM:618404
8560	DEGS1	HP:0001508	Failure to thrive	12/18	OMIM:618404
8560	DEGS1	HP:0005484	Secondary microcephaly	3/17	OMIM:618404
8565	YARS1	HP:0001133	Constriction of peripheral visual field	1/1	OMIM:619418
8565	YARS1	HP:0002460	Distal muscle weakness	1/1	OMIM:608323
8565	YARS1	HP:0002474	Expressive language delay	7/7	OMIM:619418
8565	YARS1	HP:0008619	Bilateral sensorineural hearing impairment	7/7	OMIM:619418
8565	YARS1	HP:0100806	Sepsis	3/7	OMIM:619418
8565	YARS1	HP:0001274	Agenesis of corpus callosum	1/1	OMIM:619418
8565	YARS1	HP:0001288	Gait disturbance	1/1	OMIM:608323
8565	YARS1	HP:0001284	Areflexia	1/1	OMIM:608323
8565	YARS1	HP:0001252	Hypotonia	3/3	OMIM:619418
8565	YARS1	HP:0007401	Macular atrophy	1/1	OMIM:619418
8565	YARS1	HP:0001397	Hepatic steatosis	2/3	OMIM:619418
8565	YARS1	HP:0001394	Cirrhosis	1/2	OMIM:619418
8565	YARS1	HP:0001382	Joint hypermobility	1/2	OMIM:619418
8565	YARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619418
8565	YARS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:608323
8565	YARS1	HP:0002611	Cholestatic liver disease	7/7	OMIM:619418
8565	YARS1	HP:0001414	Microvesicular hepatic steatosis	1/2	OMIM:619418
8565	YARS1	HP:0002716	Lymphadenopathy	1/2	OMIM:619418
8565	YARS1	HP:0002013	Vomiting	2/2	OMIM:619418
8565	YARS1	HP:0005948	Multiple pulmonary cysts	1/2	OMIM:619418
8565	YARS1	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:619418
8565	YARS1	HP:0003383	Onion bulb formation	0/1	OMIM:608323
8565	YARS1	HP:0002155	Hypertriglyceridemia	2/2	OMIM:619418
8565	YARS1	HP:0003484	Upper limb muscle weakness	-	OMIM:608323
8565	YARS1	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:619418
8565	YARS1	HP:0003450	Axonal regeneration	-	OMIM:608323
8565	YARS1	HP:0002119	Ventriculomegaly	1/2	OMIM:619418
8565	YARS1	HP:0003448	Decreased sensory nerve conduction velocity	1/1	OMIM:608323
8565	YARS1	HP:0003431	Decreased motor nerve conduction velocity	1/1	OMIM:608323
8565	YARS1	HP:0002197	Generalized-onset seizure	1/1	OMIM:619418
8565	YARS1	HP:0002194	Delayed gross motor development	7/7	OMIM:619418
8565	YARS1	HP:0003593	Infantile onset	2/2	OMIM:619418
8565	YARS1	HP:0002240	Hepatomegaly	1/2	OMIM:619418
8565	YARS1	HP:0003693	Distal amyotrophy	1/1	OMIM:608323
8565	YARS1	HP:0033454	Tube feeding	8/8	OMIM:619418
8565	YARS1	HP:0000639	Nystagmus	7/8	OMIM:619418
8565	YARS1	HP:0001943	Hypoglycemia	5/7	OMIM:619418
8565	YARS1	HP:0001903	Anemia	3/7	OMIM:619418
8565	YARS1	HP:0009046	Difficulty running	1/1	OMIM:608323
8565	YARS1	HP:0000662	Nyctalopia	1/1	OMIM:619418
8565	YARS1	HP:0001998	Neonatal hypoglycemia	1/1	OMIM:619418
8565	YARS1	HP:0012715	Profound hearing impairment	1/1	OMIM:619418
8565	YARS1	HP:0000786	Primary amenorrhea	1/1	OMIM:619418
8565	YARS1	HP:0000286	Epicanthus	1/2	OMIM:619418
8565	YARS1	HP:0000293	Full cheeks	2/2	OMIM:619418
8565	YARS1	HP:0000252	Microcephaly	7/7	OMIM:619418
8565	YARS1	HP:0000218	High palate	1/2	OMIM:619418
8565	YARS1	HP:0001531	Failure to thrive in infancy	1/2	OMIM:619418
8565	YARS1	HP:0001508	Failure to thrive	2/3	OMIM:619418
8565	YARS1	HP:0001510	Growth delay	7/7	OMIM:619418
8565	YARS1	HP:0006577	Macronodular cirrhosis	1/2	OMIM:619418
8565	YARS1	HP:0006579	Prolonged neonatal jaundice	1/1	OMIM:619418
8565	YARS1	HP:0002936	Distal sensory impairment	1/1	OMIM:608323
8565	YARS1	HP:0001629	Ventricular septal defect	1/7	OMIM:619418
8565	YARS1	HP:0001622	Premature birth	3/7	OMIM:619418
8565	YARS1	HP:0000308	Microretrognathia	1/2	OMIM:619418
8565	YARS1	HP:0030319	Weakness of facial musculature	1/2	OMIM:619418
8565	YARS1	HP:0001738	Exocrine pancreatic insufficiency	7/7	OMIM:619418
8565	YARS1	HP:0005280	Depressed nasal bridge	1/2	OMIM:619418
8565	YARS1	HP:0000490	Deeply set eye	9/9	OMIM:619418
8565	YARS1	HP:0030237	Hand muscle weakness	1/1	OMIM:608323
8565	YARS1	HP:0001748	Polysplenia	1/2	OMIM:619418
8565	YARS1	HP:0001747	Accessory spleen	1/2	OMIM:619418
8565	YARS1	HP:0001744	Splenomegaly	1/2	OMIM:619418
8565	YARS1	HP:0001760	Abnormal foot morphology	-	OMIM:608323
8565	YARS1	HP:0000431	Wide nasal bridge	1/2	OMIM:619418
8565	YARS1	HP:0025709	Intermediate young adult onset	1/1	OMIM:608323
8565	YARS1	HP:0011232	Infra-orbital fold	1/2	OMIM:619418
8566	PDXK	HP:0007328	Impaired pain sensation	4/4	OMIM:618511
8566	PDXK	HP:0007210	Lower limb amyotrophy	5/5	OMIM:618511
8566	PDXK	HP:0002403	Positive Romberg sign	4/4	OMIM:618511
8566	PDXK	HP:0001284	Areflexia	4/4	OMIM:618511
8566	PDXK	HP:0007340	Lower limb muscle weakness	5/5	OMIM:618511
8566	PDXK	HP:0000007	Autosomal recessive inheritance	-	OMIM:618511
8566	PDXK	HP:0007663	Reduced visual acuity	2/2	OMIM:618511
8566	PDXK	HP:0003484	Upper limb muscle weakness	5/5	OMIM:618511
8566	PDXK	HP:0003676	Progressive	-	OMIM:618511
8566	PDXK	HP:0003621	Juvenile onset	4/5	OMIM:618511
8566	PDXK	HP:0006886	Impaired distal vibration sensation	4/4	OMIM:618511
8566	PDXK	HP:0000648	Optic atrophy	5/5	OMIM:618511
8566	PDXK	HP:0011463	Childhood onset	1/5	OMIM:618511
8566	PDXK	HP:0034337	Claw hand deformity	3/5	OMIM:618511
8566	PDXK	HP:0001765	Hammertoe	5/5	OMIM:618511
8566	PDXK	HP:0001761	Pes cavus	5/5	OMIM:618511
8566	PDXK	HP:0000551	Color vision defect	4/4	OMIM:618511
8566	PDXK	HP:0000543	Optic disc pallor	4/4	OMIM:618511
8567	MADD	HP:0007328	Impaired pain sensation	9/12	OMIM:619004
8567	MADD	HP:0007328	Impaired pain sensation	2/8	OMIM:619005
8567	MADD	HP:0032210	Decreased circulating free T3	2/13	OMIM:619004
8567	MADD	HP:0001270	Motor delay	14/14	OMIM:619004
8567	MADD	HP:0001270	Motor delay	7/8	OMIM:619005
8567	MADD	HP:0001250	Seizure	9/14	OMIM:619004
8567	MADD	HP:0001250	Seizure	6/9	OMIM:619005
8567	MADD	HP:0001252	Hypotonia	14/14	OMIM:619004
8567	MADD	HP:0001249	Intellectual disability	-	OMIM:619005
8567	MADD	HP:0002553	Highly arched eyebrow	2/9	OMIM:619005
8567	MADD	HP:0003819	Death in childhood	5/14	OMIM:619004
8567	MADD	HP:0003819	Death in childhood	1/9	OMIM:619005
8567	MADD	HP:0000054	Micropenis	4/5	OMIM:619004
8567	MADD	HP:0000054	Micropenis	2/7	OMIM:619005
8567	MADD	HP:0001357	Plagiocephaly	1/9	OMIM:619005
8567	MADD	HP:0000028	Cryptorchidism	4/5	OMIM:619004
8567	MADD	HP:0000028	Cryptorchidism	3/7	OMIM:619005
8567	MADD	HP:0000007	Autosomal recessive inheritance	-	OMIM:619004
8567	MADD	HP:0000007	Autosomal recessive inheritance	-	OMIM:619005
8567	MADD	HP:0002650	Scoliosis	1/14	OMIM:619004
8567	MADD	HP:0002650	Scoliosis	1/9	OMIM:619005
8567	MADD	HP:0001319	Neonatal hypotonia	4/14	OMIM:619004
8567	MADD	HP:0001319	Neonatal hypotonia	3/9	OMIM:619005
8567	MADD	HP:0002643	Neonatal respiratory distress	7/14	OMIM:619004
8567	MADD	HP:0002643	Neonatal respiratory distress	3/9	OMIM:619005
8567	MADD	HP:0000189	Narrow palate	2/12	OMIM:619004
8567	MADD	HP:0025481	Cervical hemivertebrae	1/14	OMIM:619004
8567	MADD	HP:0000160	Narrow mouth	10/12	OMIM:619004
8567	MADD	HP:0002750	Delayed skeletal maturation	2/14	OMIM:619004
8567	MADD	HP:0002024	Malabsorption	2/14	OMIM:619004
8567	MADD	HP:0002028	Chronic diarrhea	10/14	OMIM:619004
8567	MADD	HP:0002028	Chronic diarrhea	1/7	OMIM:619005
8567	MADD	HP:0002015	Dysphagia	2/14	OMIM:619004
8567	MADD	HP:0002007	Frontal bossing	1/9	OMIM:619005
8567	MADD	HP:0003320	C1-C2 subluxation	1/14	OMIM:619004
8567	MADD	HP:0002188	Delayed CNS myelination	1/14	OMIM:619004
8567	MADD	HP:0002188	Delayed CNS myelination	2/6	OMIM:619005
8567	MADD	HP:0002162	Low posterior hairline	1/12	OMIM:619004
8567	MADD	HP:0010557	Overlapping fingers	3/14	OMIM:619004
8567	MADD	HP:0002240	Hepatomegaly	4/12	OMIM:619004
8567	MADD	HP:0002240	Hepatomegaly	1/9	OMIM:619005
8567	MADD	HP:0007018	Attention deficit hyperactivity disorder	2/5	OMIM:619005
8567	MADD	HP:0010627	Anterior pituitary hypoplasia	2/13	OMIM:619004
8567	MADD	HP:0020062	Decreased hemoglobin concentration	13/14	OMIM:619004
8567	MADD	HP:0020062	Decreased hemoglobin concentration	3/9	OMIM:619005
8567	MADD	HP:0002353	EEG abnormality	9/13	OMIM:619004
8567	MADD	HP:0002353	EEG abnormality	6/7	OMIM:619005
8567	MADD	HP:0010763	Low insertion of columella	1/9	OMIM:619005
8567	MADD	HP:0031861	Decreased heart rate variability	3/11	OMIM:619004
8567	MADD	HP:0031861	Decreased heart rate variability	1/3	OMIM:619005
8567	MADD	HP:0011344	Severe global developmental delay	14/14	OMIM:619004
8567	MADD	HP:0011344	Severe global developmental delay	5/9	OMIM:619005
8567	MADD	HP:0011343	Moderate global developmental delay	2/9	OMIM:619005
8567	MADD	HP:0000678	Dental crowding	2/9	OMIM:619005
8567	MADD	HP:0001998	Neonatal hypoglycemia	9/13	OMIM:619004
8567	MADD	HP:0004325	Decreased body weight	10/13	OMIM:619004
8567	MADD	HP:0004325	Decreased body weight	2/9	OMIM:619005
8567	MADD	HP:0004322	Short stature	14/14	OMIM:619004
8567	MADD	HP:0004370	Abnormality of temperature regulation	-	OMIM:619004
8567	MADD	HP:0012745	Short palpebral fissure	2/12	OMIM:619004
8567	MADD	HP:0012745	Short palpebral fissure	1/9	OMIM:619005
8567	MADD	HP:0000733	Motor stereotypy	1/5	OMIM:619005
8567	MADD	HP:0000750	Delayed speech and language development	9/11	OMIM:619004
8567	MADD	HP:0000750	Delayed speech and language development	7/8	OMIM:619005
8567	MADD	HP:0000742	Self-mutilation	6/11	OMIM:619004
8567	MADD	HP:0000742	Self-mutilation	1/8	OMIM:619005
8567	MADD	HP:0000729	Autistic behavior	1/5	OMIM:619005
8567	MADD	HP:0011421	Death in adolescence	1/14	OMIM:619004
8567	MADD	HP:0003196	Short nose	3/12	OMIM:619004
8567	MADD	HP:0003196	Short nose	1/9	OMIM:619005
8567	MADD	HP:0000871	Panhypopituitarism	8/12	OMIM:619004
8567	MADD	HP:0000824	Decreased response to growth hormone stimulation test	8/10	OMIM:619004
8567	MADD	HP:0033078	Decreased circulating free T4 concentration	3/13	OMIM:619004
8567	MADD	HP:0000966	Hypohidrosis	6/11	OMIM:619004
8567	MADD	HP:0000286	Epicanthus	1/12	OMIM:619004
8567	MADD	HP:0000278	Retrognathia	2/12	OMIM:619004
8567	MADD	HP:0000268	Dolichocephaly	2/9	OMIM:619005
8567	MADD	HP:0002808	Kyphosis	1/9	OMIM:619005
8567	MADD	HP:0000218	High palate	4/12	OMIM:619004
8567	MADD	HP:0000218	High palate	1/9	OMIM:619005
8567	MADD	HP:0001561	Polyhydramnios	1/14	OMIM:619004
8567	MADD	HP:0001522	Death in infancy	1/14	OMIM:619004
8567	MADD	HP:0001511	Intrauterine growth retardation	3/14	OMIM:619004
8567	MADD	HP:0001511	Intrauterine growth retardation	1/8	OMIM:619005
8567	MADD	HP:0000365	Hearing impairment	4/14	OMIM:619004
8567	MADD	HP:0000369	Low-set ears	3/12	OMIM:619004
8567	MADD	HP:0000341	Narrow forehead	2/12	OMIM:619004
8567	MADD	HP:0000343	Long philtrum	1/12	OMIM:619004
8567	MADD	HP:0000337	Broad forehead	1/9	OMIM:619005
8567	MADD	HP:0000348	High forehead	4/12	OMIM:619004
8567	MADD	HP:0000348	High forehead	2/9	OMIM:619005
8567	MADD	HP:0000347	Micrognathia	1/9	OMIM:619005
8567	MADD	HP:0000322	Short philtrum	2/12	OMIM:619004
8567	MADD	HP:0000307	Pointed chin	1/9	OMIM:619005
8567	MADD	HP:0006610	Wide intermamillary distance	1/12	OMIM:619004
8567	MADD	HP:0001738	Exocrine pancreatic insufficiency	13/14	OMIM:619004
8567	MADD	HP:0005274	Prominent nasal tip	1/12	OMIM:619004
8567	MADD	HP:0005280	Depressed nasal bridge	1/9	OMIM:619005
8567	MADD	HP:0000486	Strabismus	2/14	OMIM:619004
8567	MADD	HP:0012471	Thick vermilion border	1/9	OMIM:619005
8567	MADD	HP:0000463	Anteverted nares	1/9	OMIM:619005
8567	MADD	HP:0012450	Chronic constipation	6/14	OMIM:619004
8567	MADD	HP:0012450	Chronic constipation	3/7	OMIM:619005
8567	MADD	HP:0000470	Short neck	2/12	OMIM:619004
8567	MADD	HP:0012427	Increased femoral anteversion	1/9	OMIM:619005
8567	MADD	HP:0000430	Underdeveloped nasal alae	1/9	OMIM:619005
8567	MADD	HP:0000527	Long eyelashes	1/9	OMIM:619005
8567	MADD	HP:0000522	Alacrima	5/13	OMIM:619004
8567	MADD	HP:0000522	Alacrima	1/8	OMIM:619005
8567	MADD	HP:0000577	Exotropia	1/9	OMIM:619005
8567	MADD	HP:0000565	Esotropia	4/14	OMIM:619004
8567	MADD	HP:0000540	Hypermetropia	1/14	OMIM:619004
8567	MADD	HP:0012510	Extra-axial cerebrospinal fluid accumulation	4/14	OMIM:619004
8567	MADD	HP:0012510	Extra-axial cerebrospinal fluid accumulation	1/6	OMIM:619005
8567	MADD	HP:0001873	Thrombocytopenia	5/14	OMIM:619004
8567	MADD	HP:0001873	Thrombocytopenia	1/8	OMIM:619005
8567	MADD	HP:0000545	Myopia	1/14	OMIM:619004
8572	PDLIM4	HP:0000006	Autosomal dominant inheritance	-	OMIM:166710
8572	PDLIM4	HP:0000939	Osteoporosis	-	OMIM:166710
8573	CASK	HP:0410179	Decreased glucose-6-phosphate dehydrogenase level in blood	20/20	OMIM:300908
8573	CASK	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:1934
8573	CASK	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:1934
8573	CASK	HP:0009879	Simplified gyral pattern	5/5	OMIM:300749
8573	CASK	HP:0002421	Poor head control	HP:0040282	ORPHA:1934
8573	CASK	HP:0001276	Hypertonia	-	OMIM:300749
8573	CASK	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:1934
8573	CASK	HP:0001288	Gait disturbance	HP:0040282	ORPHA:163937
8573	CASK	HP:0001254	Lethargy	HP:0040282	ORPHA:1934
8573	CASK	HP:0001250	Seizure	3/6	OMIM:300749
8573	CASK	HP:0001250	Seizure	HP:0040280	ORPHA:1934
8573	CASK	HP:0001250	Seizure	5/8	OMIM:300422
8573	CASK	HP:0001250	Seizure	HP:0040282	ORPHA:163937
8573	CASK	HP:0001252	Hypotonia	3/5	OMIM:300749
8573	CASK	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1934
8573	CASK	HP:0001249	Intellectual disability	-	OMIM:300422
8573	CASK	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:1934
8573	CASK	HP:0001263	Global developmental delay	5/5	OMIM:300749
8573	CASK	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1934
8573	CASK	HP:0001263	Global developmental delay	-	OMIM:300422
8573	CASK	HP:0001257	Spasticity	HP:0040283	ORPHA:1934
8573	CASK	HP:0001257	Spasticity	2/6	OMIM:300749
8573	CASK	HP:0001257	Spasticity	HP:0040283	ORPHA:163937
8573	CASK	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:1934
8573	CASK	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:163937
8573	CASK	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:1934
8573	CASK	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:1934
8573	CASK	HP:0000070	Ureterocele	HP:0040284	ORPHA:1934
8573	CASK	HP:0025336	Delayed ability to sit	3/4	OMIM:300749
8573	CASK	HP:0000054	Micropenis	HP:0040284	ORPHA:1934
8573	CASK	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1934
8573	CASK	HP:0001347	Hyperreflexia	-	OMIM:300749
8573	CASK	HP:0001357	Plagiocephaly	1/5	OMIM:300749
8573	CASK	HP:0008897	Postnatal growth retardation	-	OMIM:300749
8573	CASK	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:163937
8573	CASK	HP:0008872	Feeding difficulties in infancy	5/8	OMIM:300422
8573	CASK	HP:0001332	Dystonia	HP:0040284	ORPHA:1934
8573	CASK	HP:0001332	Dystonia	HP:0040282	ORPHA:163937
8573	CASK	HP:0001324	Muscle weakness	-	OMIM:300749
8573	CASK	HP:0001344	Absent speech	4/4	OMIM:300749
8573	CASK	HP:0001344	Absent speech	HP:0040283	ORPHA:163937
8573	CASK	HP:0001337	Tremor	HP:0040283	ORPHA:1934
8573	CASK	HP:0001336	Myoclonus	HP:0040283	ORPHA:1934
8573	CASK	HP:0001302	Pachygyria	HP:0040283	OMIM:300749
8573	CASK	HP:0001302	Pachygyria	HP:0040283	ORPHA:1934
8573	CASK	HP:0002650	Scoliosis	2/6	OMIM:300749
8573	CASK	HP:0002650	Scoliosis	HP:0040283	ORPHA:163937
8573	CASK	HP:0002650	Scoliosis	2/8	OMIM:300422
8573	CASK	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:163937
8573	CASK	HP:0001321	Cerebellar hypoplasia	5/5	OMIM:300749
8573	CASK	HP:0001319	Neonatal hypotonia	6/8	OMIM:300422
8573	CASK	HP:0012171	Stereotypical hand wringing	HP:0040282	ORPHA:163937
8573	CASK	HP:0000175	Cleft palate	HP:0040284	ORPHA:1934
8573	CASK	HP:0008947	Floppy infant	HP:0040282	ORPHA:163937
8573	CASK	HP:0008947	Floppy infant	HP:0040282	ORPHA:1934
8573	CASK	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:163937
8573	CASK	HP:0008936	Axial hypotonia	-	OMIM:300749
8573	CASK	HP:0012110	Hypoplasia of the pons	5/5	OMIM:300749
8573	CASK	HP:0012110	Hypoplasia of the pons	HP:0040281	ORPHA:163937
8573	CASK	HP:0001423	X-linked dominant inheritance	-	OMIM:300908
8573	CASK	HP:0001423	X-linked dominant inheritance	-	OMIM:300749
8573	CASK	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:1934
8573	CASK	HP:0001417	X-linked inheritance	-	OMIM:300422
8573	CASK	HP:0002033	Poor suck	HP:0040282	ORPHA:1934
8573	CASK	HP:0002027	Abdominal pain	11/11	OMIM:300908
8573	CASK	HP:0002015	Dysphagia	HP:0040282	ORPHA:1934
8573	CASK	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:1934
8573	CASK	HP:0002063	Rigidity	HP:0040283	ORPHA:163937
8573	CASK	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1934
8573	CASK	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:1934
8573	CASK	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:163937
8573	CASK	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:1934
8573	CASK	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:1934
8573	CASK	HP:0002198	Dilated fourth ventricle	-	OMIM:300749
8573	CASK	HP:0008282	Unconjugated hyperbilirubinemia	-	OMIM:300908
8573	CASK	HP:0003596	Middle age onset	1/19	OMIM:300908
8573	CASK	HP:0003593	Infantile onset	4/19	OMIM:300908
8573	CASK	HP:0003577	Congenital onset	3/19	OMIM:300908
8573	CASK	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:1934
8573	CASK	HP:0004879	Intermittent hyperventilation	1/6	OMIM:300749
8573	CASK	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1934
8573	CASK	HP:0200134	Epileptic encephalopathy	HP:0040282	ORPHA:163937
8573	CASK	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:1934
8573	CASK	HP:0011968	Feeding difficulties	5/5	OMIM:300749
8573	CASK	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1934
8573	CASK	HP:0003508	Proportionate short stature	HP:0040283	ORPHA:163937
8573	CASK	HP:0020082	Heinz bodies	-	OMIM:300908
8573	CASK	HP:0004814	Fava bean-induced hemolytic anemia	16/16	OMIM:300908
8573	CASK	HP:0002365	Hypoplasia of the brainstem	5/5	OMIM:300749
8573	CASK	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:163937
8573	CASK	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:1934
8573	CASK	HP:0002376	Developmental regression	HP:0040283	ORPHA:1934
8573	CASK	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1934
8573	CASK	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:163937
8573	CASK	HP:0002342	Intellectual disability, moderate	-	OMIM:300749
8573	CASK	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1934
8573	CASK	HP:0002317	Unsteady gait	HP:0040283	ORPHA:163937
8573	CASK	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:1934
8573	CASK	HP:0100660	Dyskinesia	HP:0040283	ORPHA:163937
8573	CASK	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1934
8573	CASK	HP:0010819	Atonic seizure	HP:0040283	ORPHA:1934
8573	CASK	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:1934
8573	CASK	HP:0001090	Abnormally large globe	-	OMIM:300749
8573	CASK	HP:0003641	Hemoglobinuria	-	OMIM:300908
8573	CASK	HP:0003621	Juvenile onset	3/19	OMIM:300908
8573	CASK	HP:0000639	Nystagmus	HP:0040283	OMIM:300749
8573	CASK	HP:0000639	Nystagmus	HP:0040282	ORPHA:163937
8573	CASK	HP:0000648	Optic atrophy	HP:0040283	ORPHA:163937
8573	CASK	HP:0001974	Increased total leukocyte count	-	OMIM:300908
8573	CASK	HP:0001945	Fever	11/11	OMIM:300908
8573	CASK	HP:0001923	Reticulocytosis	-	OMIM:300908
8573	CASK	HP:0000609	Optic nerve hypoplasia	1/6	OMIM:300749
8573	CASK	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:163937
8573	CASK	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:163937
8573	CASK	HP:0004325	Decreased body weight	-	OMIM:300749
8573	CASK	HP:0004322	Short stature	3/5	OMIM:300749
8573	CASK	HP:0031936	Delayed ability to walk	3/3	OMIM:300749
8573	CASK	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1934
8573	CASK	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1934
8573	CASK	HP:0000729	Autistic behavior	HP:0040283	ORPHA:163937
8573	CASK	HP:0010174	Broad phalanx of the toes	HP:0040284	ORPHA:1934
8573	CASK	HP:0011463	Childhood onset	7/19	OMIM:300908
8573	CASK	HP:0011462	Young adult onset	1/19	OMIM:300908
8573	CASK	HP:0004447	Poikilocytosis	-	OMIM:300908
8573	CASK	HP:0003196	Short nose	-	OMIM:300749
8573	CASK	HP:0003196	Short nose	HP:0040282	ORPHA:163937
8573	CASK	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1934
8573	CASK	HP:0000980	Pallor	-	OMIM:300908
8573	CASK	HP:0000952	Jaundice	1/1	OMIM:300908
8573	CASK	HP:0034353	Appendicular spasticity	HP:0040282	ORPHA:163937
8573	CASK	HP:0000966	Hypohidrosis	-	OMIM:300749
8573	CASK	HP:0009381	Short finger	HP:0040284	ORPHA:1934
8573	CASK	HP:0000286	Epicanthus	-	OMIM:300749
8573	CASK	HP:0000278	Retrognathia	HP:0040282	ORPHA:163937
8573	CASK	HP:0000253	Progressive microcephaly	-	OMIM:300749
8573	CASK	HP:0000253	Progressive microcephaly	HP:0040281	ORPHA:163937
8573	CASK	HP:0000252	Microcephaly	5/5	OMIM:300749
8573	CASK	HP:0000252	Microcephaly	HP:0040284	ORPHA:1934
8573	CASK	HP:0000252	Microcephaly	HP:0040282	ORPHA:163937
8573	CASK	HP:0000218	High palate	-	OMIM:300749
8573	CASK	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1934
8573	CASK	HP:0001508	Failure to thrive	HP:0040283	ORPHA:163937
8573	CASK	HP:0001508	Failure to thrive	HP:0040284	ORPHA:1934
8573	CASK	HP:0001500	Broad finger	HP:0040284	ORPHA:1934
8573	CASK	HP:0011097	Epileptic spasm	HP:0040282	ORPHA:163937
8573	CASK	HP:0006579	Prolonged neonatal jaundice	19/19	OMIM:300908
8573	CASK	HP:0000365	Hearing impairment	HP:0040283	OMIM:300749
8573	CASK	HP:0000340	Sloping forehead	HP:0040284	ORPHA:1934
8573	CASK	HP:0000343	Long philtrum	-	OMIM:300749
8573	CASK	HP:0000343	Long philtrum	HP:0040282	ORPHA:163937
8573	CASK	HP:0000337	Broad forehead	HP:0040282	ORPHA:163937
8573	CASK	HP:0000347	Micrognathia	3/5	OMIM:300749
8573	CASK	HP:0000347	Micrognathia	HP:0040282	ORPHA:163937
8573	CASK	HP:0032794	Myoclonic seizure	HP:0040282	ORPHA:163937
8573	CASK	HP:0000319	Smooth philtrum	1/5	OMIM:300749
8573	CASK	HP:0000316	Hypertelorism	1/5	OMIM:300749
8573	CASK	HP:0000316	Hypertelorism	HP:0040282	ORPHA:163937
8573	CASK	HP:0000316	Hypertelorism	-	OMIM:300422
8573	CASK	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:1934
8573	CASK	HP:0000300	Oval face	-	OMIM:300749
8573	CASK	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	HP:0040283	ORPHA:1934
8573	CASK	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:1934
8573	CASK	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:1934
8573	CASK	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:1934
8573	CASK	HP:0000407	Sensorineural hearing impairment	2/4	OMIM:300749
8573	CASK	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:163937
8573	CASK	HP:0000407	Sensorineural hearing impairment	4/6	OMIM:300422
8573	CASK	HP:0000400	Macrotia	HP:0040282	ORPHA:163937
8573	CASK	HP:0000400	Macrotia	3/5	OMIM:300749
8573	CASK	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:1934
8573	CASK	HP:0000486	Strabismus	HP:0040283	OMIM:300749
8573	CASK	HP:0000486	Strabismus	HP:0040282	ORPHA:163937
8573	CASK	HP:0000486	Strabismus	HP:0040284	ORPHA:1934
8573	CASK	HP:0000480	Retinal coloboma	1/6	OMIM:300749
8573	CASK	HP:0012469	Infantile spasms	HP:0040283	ORPHA:1934
8573	CASK	HP:0000494	Downslanted palpebral fissures	1/5	OMIM:300749
8573	CASK	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1934
8573	CASK	HP:0012448	Delayed myelination	HP:0040283	ORPHA:1934
8573	CASK	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:163937
8573	CASK	HP:0000455	Broad nasal tip	2/5	OMIM:300749
8573	CASK	HP:0001744	Splenomegaly	17/20	OMIM:300908
8573	CASK	HP:0000431	Wide nasal bridge	3/5	OMIM:300749
8573	CASK	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:163937
8573	CASK	HP:0000431	Wide nasal bridge	-	OMIM:300422
8573	CASK	HP:0000426	Prominent nasal bridge	-	OMIM:300749
8573	CASK	HP:0011273	Anisocytosis	-	OMIM:300908
8573	CASK	HP:0000505	Visual impairment	HP:0040282	ORPHA:163937
8573	CASK	HP:0012554	Absent thumbnail	HP:0040284	ORPHA:1934
8573	CASK	HP:0011220	Prominent forehead	3/8	OMIM:300422
8573	CASK	HP:0000543	Optic disc pallor	2/6	OMIM:300749
8573	CASK	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:163937
8573	CASK	HP:0000545	Myopia	HP:0040282	ORPHA:163937
8575	PRKRA	HP:0002451	Limb dystonia	HP:0040281	ORPHA:210571
8575	PRKRA	HP:0002451	Limb dystonia	7/7	OMIM:612067
8575	PRKRA	HP:0007325	Generalized dystonia	7/7	OMIM:612067
8575	PRKRA	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:210571
8575	PRKRA	HP:0007256	Abnormal pyramidal sign	13/17	OMIM:612067
8575	PRKRA	HP:0001270	Motor delay	HP:0040283	ORPHA:210571
8575	PRKRA	HP:0001270	Motor delay	-	OMIM:612067
8575	PRKRA	HP:0001288	Gait disturbance	-	OMIM:612067
8575	PRKRA	HP:0001249	Intellectual disability	HP:0040284	ORPHA:210571
8575	PRKRA	HP:0001260	Dysarthria	HP:0040282	ORPHA:210571
8575	PRKRA	HP:0001260	Dysarthria	-	OMIM:612067
8575	PRKRA	HP:0002544	Retrocollis	-	OMIM:612067
8575	PRKRA	HP:0012049	Laryngeal dystonia	-	OMIM:612067
8575	PRKRA	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:210571
8575	PRKRA	HP:0001347	Hyperreflexia	-	OMIM:612067
8575	PRKRA	HP:0000007	Autosomal recessive inheritance	-	OMIM:612067
8575	PRKRA	HP:0001300	Parkinsonism	HP:0040282	ORPHA:210571
8575	PRKRA	HP:0001300	Parkinsonism	4/7	OMIM:612067
8575	PRKRA	HP:0002015	Dysphagia	HP:0040282	ORPHA:210571
8575	PRKRA	HP:0002015	Dysphagia	-	OMIM:612067
8575	PRKRA	HP:0100543	Cognitive impairment	HP:0040283	OMIM:612067
8575	PRKRA	HP:0002067	Bradykinesia	HP:0040282	ORPHA:210571
8575	PRKRA	HP:0002067	Bradykinesia	-	OMIM:612067
8575	PRKRA	HP:0002062	Abnormal pyramidal tract morphology	-	OMIM:612067
8575	PRKRA	HP:0002174	Postural tremor	HP:0040282	ORPHA:210571
8575	PRKRA	HP:0002174	Postural tremor	-	OMIM:612067
8575	PRKRA	HP:0003676	Progressive	-	OMIM:612067
8575	PRKRA	HP:0002317	Unsteady gait	HP:0040282	ORPHA:210571
8575	PRKRA	HP:0100660	Dyskinesia	-	OMIM:612067
8575	PRKRA	HP:0009763	Limb pain	-	OMIM:612067
8575	PRKRA	HP:0002310	Orofacial dyskinesia	HP:0040282	ORPHA:210571
8575	PRKRA	HP:0003621	Juvenile onset	4/7	OMIM:612067
8575	PRKRA	HP:0004305	Involuntary movements	-	OMIM:612067
8575	PRKRA	HP:0000750	Delayed speech and language development	-	OMIM:612067
8575	PRKRA	HP:0011463	Childhood onset	2/7	OMIM:612067
8575	PRKRA	HP:0001618	Dysphonia	HP:0040282	ORPHA:210571
8575	PRKRA	HP:0001618	Dysphonia	-	OMIM:612067
8575	PRKRA	HP:0000473	Torticollis	HP:0040282	ORPHA:210571
8575	PRKRA	HP:0025708	Early young adult onset	1/7	OMIM:612067
8575	PRKRA	HP:0012514	Lower limb pain	HP:0040282	ORPHA:210571
8575	PRKRA	HP:0012514	Lower limb pain	-	OMIM:612067
8600	TNFSF11	HP:0007209	Facial paralysis	-	OMIM:259710
8600	TNFSF11	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8600	TNFSF11	HP:0001293	Cranial nerve compression	-	OMIM:131300
8600	TNFSF11	HP:0001293	Cranial nerve compression	-	OMIM:259710
8600	TNFSF11	HP:0001250	Seizure	1/6	OMIM:259710
8600	TNFSF11	HP:0001252	Hypotonia	2/7	OMIM:615777
8600	TNFSF11	HP:0001249	Intellectual disability	0/6	OMIM:259710
8600	TNFSF11	HP:0001249	Intellectual disability	5/7	OMIM:615777
8600	TNFSF11	HP:0001263	Global developmental delay	-	OMIM:615777
8600	TNFSF11	HP:0002515	Waddling gait	54/102	OMIM:131300
8600	TNFSF11	HP:0001382	Joint hypermobility	-	OMIM:615777
8600	TNFSF11	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8600	TNFSF11	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8600	TNFSF11	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8600	TNFSF11	HP:0001324	Muscle weakness	40/96	OMIM:131300
8600	TNFSF11	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8600	TNFSF11	HP:0000007	Autosomal recessive inheritance	-	OMIM:259710
8600	TNFSF11	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8600	TNFSF11	HP:0001337	Tremor	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8600	TNFSF11	HP:0002653	Bone pain	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0002650	Scoliosis	12/14	OMIM:131300
8600	TNFSF11	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8600	TNFSF11	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8600	TNFSF11	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8600	TNFSF11	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8600	TNFSF11	HP:0000175	Cleft palate	2/7	OMIM:615777
8600	TNFSF11	HP:0006335	Persistence of primary teeth	-	OMIM:259710
8600	TNFSF11	HP:0006323	Premature loss of primary teeth	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0007626	Mandibular osteomyelitis	-	OMIM:259710
8600	TNFSF11	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0002757	Recurrent fractures	4/6	OMIM:259710
8600	TNFSF11	HP:0002754	Osteomyelitis	-	OMIM:259710
8600	TNFSF11	HP:0001433	Hepatosplenomegaly	6/6	OMIM:259710
8600	TNFSF11	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:667
8600	TNFSF11	HP:0003388	Easy fatigability	36/76	OMIM:131300
8600	TNFSF11	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8600	TNFSF11	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0002148	Hypophosphatemia	HP:0040283	ORPHA:667
8600	TNFSF11	HP:0002104	Apnea	HP:0040283	ORPHA:667
8600	TNFSF11	HP:0010543	Opsoclonus	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0003593	Infantile onset	3/6	OMIM:259710
8600	TNFSF11	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0002257	Chronic rhinitis	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0010719	Abnormality of hair texture	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0003510	Severe short stature	7/7	OMIM:615777
8600	TNFSF11	HP:0002315	Headache	-	OMIM:131300
8600	TNFSF11	HP:0004976	Knee dislocation	6/7	OMIM:615777
8600	TNFSF11	HP:0009803	Short phalanx of finger	-	OMIM:615777
8600	TNFSF11	HP:0009763	Limb pain	63/92	OMIM:131300
8600	TNFSF11	HP:0003623	Neonatal onset	3/6	OMIM:259710
8600	TNFSF11	HP:0003621	Juvenile onset	-	OMIM:131300
8600	TNFSF11	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8600	TNFSF11	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:667
8600	TNFSF11	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8600	TNFSF11	HP:0000639	Nystagmus	2/6	OMIM:259710
8600	TNFSF11	HP:0000639	Nystagmus	HP:0040281	ORPHA:667
8600	TNFSF11	HP:6001056	Out-toeing	-	OMIM:131300
8600	TNFSF11	HP:0000651	Diplopia	-	OMIM:131300
8600	TNFSF11	HP:0000649	Abnormality of visual evoked potentials	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0000648	Optic atrophy	-	OMIM:259710
8600	TNFSF11	HP:0001978	Extramedullary hematopoiesis	-	OMIM:259710
8600	TNFSF11	HP:0000618	Blindness	1/6	OMIM:259710
8600	TNFSF11	HP:0001956	Truncal obesity	2/7	OMIM:615777
8600	TNFSF11	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0001903	Anemia	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0001903	Anemia	HP:0040283	OMIM:131300
8600	TNFSF11	HP:0001903	Anemia	6/6	OMIM:259710
8600	TNFSF11	HP:0010049	Short metacarpal	-	OMIM:615777
8600	TNFSF11	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0000678	Dental crowding	-	OMIM:615777
8600	TNFSF11	HP:0000670	Carious teeth	-	OMIM:131300
8600	TNFSF11	HP:0000670	Carious teeth	-	OMIM:259710
8600	TNFSF11	HP:0011304	Broad thumb	2/7	OMIM:615777
8600	TNFSF11	HP:0000668	Hypodontia	-	OMIM:615777
8600	TNFSF11	HP:0000664	Synophrys	-	OMIM:615777
8600	TNFSF11	HP:0004396	Poor appetite	-	OMIM:131300
8600	TNFSF11	HP:0003034	Diaphyseal sclerosis	-	OMIM:259710
8600	TNFSF11	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8600	TNFSF11	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8600	TNFSF11	HP:0004370	Abnormality of temperature regulation	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8600	TNFSF11	HP:0003026	Short long bone	7/7	OMIM:615777
8600	TNFSF11	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8600	TNFSF11	HP:0004349	Reduced bone mineral density	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8600	TNFSF11	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8600	TNFSF11	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8600	TNFSF11	HP:0000750	Delayed speech and language development	-	OMIM:615777
8600	TNFSF11	HP:0011461	Fetal onset	7/7	OMIM:615777
8600	TNFSF11	HP:0000774	Narrow chest	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0000774	Narrow chest	2/7	OMIM:615777
8600	TNFSF11	HP:0004437	Cranial hyperostosis	-	OMIM:259710
8600	TNFSF11	HP:0004415	Pulmonary artery stenosis	HP:0040283	ORPHA:667
8600	TNFSF11	HP:0000926	Platyspondyly	1/7	OMIM:615777
8600	TNFSF11	HP:0003180	Flat acetabular roof	-	OMIM:615777
8600	TNFSF11	HP:0004482	Relative macrocephaly	-	OMIM:615777
8600	TNFSF11	HP:0004499	Chronic rhinitis due to narrow nasal airway	-	OMIM:259710
8600	TNFSF11	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8600	TNFSF11	HP:0000823	Delayed puberty	-	OMIM:131300
8600	TNFSF11	HP:0000894	Short clavicles	-	OMIM:615777
8600	TNFSF11	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8600	TNFSF11	HP:0000980	Pallor	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:667
8600	TNFSF11	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8600	TNFSF11	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0000286	Epicanthus	1/7	OMIM:615777
8600	TNFSF11	HP:0000280	Coarse facial features	2/7	OMIM:615777
8600	TNFSF11	HP:0000256	Macrocephaly	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0002827	Hip dislocation	3/7	OMIM:615777
8600	TNFSF11	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0000238	Hydrocephalus	3/6	OMIM:259710
8600	TNFSF11	HP:0000252	Microcephaly	-	OMIM:615777
8600	TNFSF11	HP:0002857	Genu valgum	-	OMIM:131300
8600	TNFSF11	HP:0002857	Genu valgum	-	OMIM:259710
8600	TNFSF11	HP:0001533	Slender build	-	OMIM:131300
8600	TNFSF11	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8600	TNFSF11	HP:0001510	Growth delay	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0007807	Optic nerve compression	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0007807	Optic nerve compression	-	OMIM:131300
8600	TNFSF11	HP:0012368	Flat face	7/7	OMIM:615777
8600	TNFSF11	HP:0000388	Otitis media	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8600	TNFSF11	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:667
8600	TNFSF11	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0000365	Hearing impairment	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0000365	Hearing impairment	10/67	OMIM:131300
8600	TNFSF11	HP:0000343	Long philtrum	1/7	OMIM:615777
8600	TNFSF11	HP:0011002	Osteopetrosis	-	OMIM:259710
8600	TNFSF11	HP:0011002	Osteopetrosis	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0011001	Increased bone mineral density	-	OMIM:131300
8600	TNFSF11	HP:0000311	Round face	2/7	OMIM:615777
8600	TNFSF11	HP:0001641	Abnormal pulmonary valve morphology	HP:0040283	ORPHA:667
8600	TNFSF11	HP:0002970	Genu varum	-	OMIM:615777
8600	TNFSF11	HP:0000303	Mandibular prognathia	-	OMIM:131300
8600	TNFSF11	HP:0000303	Mandibular prognathia	-	OMIM:259710
8600	TNFSF11	HP:0030328	Decreased osteoclast count	4/4	OMIM:259710
8600	TNFSF11	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8600	TNFSF11	HP:0000470	Short neck	1/7	OMIM:615777
8600	TNFSF11	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8600	TNFSF11	HP:0001763	Pes planus	1/7	OMIM:615777
8600	TNFSF11	HP:0001744	Splenomegaly	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0001840	Metatarsus adductus	-	OMIM:615777
8600	TNFSF11	HP:0000520	Proptosis	2/4	OMIM:131300
8600	TNFSF11	HP:0000520	Proptosis	7/7	OMIM:615777
8600	TNFSF11	HP:0000505	Visual impairment	HP:0040281	ORPHA:667
8600	TNFSF11	HP:0000592	Blue sclerae	2/7	OMIM:615777
8600	TNFSF11	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8600	TNFSF11	HP:0012514	Lower limb pain	4/4	OMIM:131300
8600	TNFSF11	HP:0001873	Thrombocytopenia	-	OMIM:259710
8600	TNFSF11	HP:0001876	Pancytopenia	-	OMIM:259710
8604	SLC25A12	HP:0001182	Tapered finger	2/2	OMIM:612949
8604	SLC25A12	HP:0002421	Poor head control	2/3	OMIM:612949
8604	SLC25A12	HP:0001250	Seizure	2/2	OMIM:612949
8604	SLC25A12	HP:0001252	Hypotonia	1/2	OMIM:612949
8604	SLC25A12	HP:0001263	Global developmental delay	3/3	OMIM:612949
8604	SLC25A12	HP:0001257	Spasticity	1/1	OMIM:612949
8604	SLC25A12	HP:0003803	Type 1 muscle fiber predominance	1/2	OMIM:612949
8604	SLC25A12	HP:0001344	Absent speech	3/3	OMIM:612949
8604	SLC25A12	HP:0000007	Autosomal recessive inheritance	-	OMIM:612949
8604	SLC25A12	HP:0001336	Myoclonus	1/1	OMIM:612949
8604	SLC25A12	HP:0000189	Narrow palate	1/2	OMIM:612949
8604	SLC25A12	HP:0008936	Axial hypotonia	1/2	OMIM:612949
8604	SLC25A12	HP:0002705	High, narrow palate	1/2	OMIM:612949
8604	SLC25A12	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:612949
8604	SLC25A12	HP:0002133	Status epilepticus	1/2	OMIM:612949
8604	SLC25A12	HP:0002104	Apnea	1/1	OMIM:612949
8604	SLC25A12	HP:0002197	Generalized-onset seizure	1/2	OMIM:612949
8604	SLC25A12	HP:0003593	Infantile onset	2/3	OMIM:612949
8604	SLC25A12	HP:0003577	Congenital onset	1/2	OMIM:612949
8604	SLC25A12	HP:0002230	Generalized hirsutism	1/2	OMIM:612949
8604	SLC25A12	HP:0003557	Increased variability in muscle fiber diameter	1/2	OMIM:612949
8604	SLC25A12	HP:0200134	Epileptic encephalopathy	2/3	OMIM:612949
8604	SLC25A12	HP:0007034	Generalized hyperreflexia	1/1	OMIM:612949
8604	SLC25A12	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/2	OMIM:612949
8604	SLC25A12	HP:0002307	Drooling	1/2	OMIM:612949
8604	SLC25A12	HP:0006829	Severe muscular hypotonia	1/1	OMIM:612949
8604	SLC25A12	HP:0006808	Cerebral hypomyelination	1/1	OMIM:612949
8604	SLC25A12	HP:0011335	Frontal hirsutism	1/2	OMIM:612949
8604	SLC25A12	HP:0031936	Delayed ability to walk	2/2	OMIM:612949
8604	SLC25A12	HP:0012708	Reduced brain N-acetyl aspartate level by MRS	1/1	OMIM:612949
8604	SLC25A12	HP:0011451	Primary microcephaly	1/2	OMIM:612949
8604	SLC25A12	HP:0000817	Reduced eye contact	1/1	OMIM:612949
8604	SLC25A12	HP:0000954	Single transverse palmar crease	2/2	OMIM:612949
8604	SLC25A12	HP:0032656	Febrile status epilepticus	1/2	OMIM:612949
8604	SLC25A12	HP:0001561	Polyhydramnios	1/2	OMIM:612949
8604	SLC25A12	HP:0000389	Chronic otitis media	1/2	OMIM:612949
8604	SLC25A12	HP:0005235	Jejunal atresia	1/2	OMIM:612949
8604	SLC25A12	HP:0001667	Right ventricular hypertrophy	1/2	OMIM:612949
8604	SLC25A12	HP:0032792	Tonic seizure	1/1	OMIM:612949
8604	SLC25A12	HP:0000316	Hypertelorism	1/2	OMIM:612949
8604	SLC25A12	HP:0000300	Oval face	1/2	OMIM:612949
8604	SLC25A12	HP:0032989	Delayed ability to roll over	1/1	OMIM:612949
8604	SLC25A12	HP:0032988	Persistent head lag	1/2	OMIM:612949
8604	SLC25A12	HP:0005484	Secondary microcephaly	1/2	OMIM:612949
8604	SLC25A12	HP:0005469	Flat occiput	1/2	OMIM:612949
8604	SLC25A12	HP:0011261	Darwin tubercle of helix	1/2	OMIM:612949
8621	CDK13	HP:0002472	Small cerebral cortex	HP:0040283	OMIM:617360
8621	CDK13	HP:0001274	Agenesis of corpus callosum	2/7	OMIM:617360
8621	CDK13	HP:0001270	Motor delay	5/5	OMIM:617360
8621	CDK13	HP:0001250	Seizure	HP:0040284	OMIM:617360
8621	CDK13	HP:0001252	Hypotonia	3/7	OMIM:617360
8621	CDK13	HP:0001249	Intellectual disability	5/5	OMIM:617360
8621	CDK13	HP:0001263	Global developmental delay	7/7	OMIM:617360
8621	CDK13	HP:0002572	Episodic vomiting	1/7	OMIM:617360
8621	CDK13	HP:0007413	Nevus flammeus of the forehead	1/7	OMIM:617360
8621	CDK13	HP:0002553	Highly arched eyebrow	1/7	OMIM:617360
8621	CDK13	HP:0025336	Delayed ability to sit	6/6	OMIM:617360
8621	CDK13	HP:0001382	Joint hypermobility	3/7	OMIM:617360
8621	CDK13	HP:0001357	Plagiocephaly	2/14	OMIM:617360
8621	CDK13	HP:0000006	Autosomal dominant inheritance	-	OMIM:617360
8621	CDK13	HP:0002650	Scoliosis	1/7	OMIM:617360
8621	CDK13	HP:0000160	Narrow mouth	3/7	OMIM:617360
8621	CDK13	HP:0002714	Downturned corners of mouth	2/7	OMIM:617360
8621	CDK13	HP:0002020	Gastroesophageal reflux	1/7	OMIM:617360
8621	CDK13	HP:0002019	Constipation	1/7	OMIM:617360
8621	CDK13	HP:0005989	Redundant neck skin	1/7	OMIM:617360
8621	CDK13	HP:0002079	Hypoplasia of the corpus callosum	1/7	OMIM:617360
8621	CDK13	HP:0002121	Generalized non-motor (absence) seizure	1/7	OMIM:617360
8621	CDK13	HP:0002162	Low posterior hairline	1/7	OMIM:617360
8621	CDK13	HP:0010536	Central sleep apnea	1/7	OMIM:617360
8621	CDK13	HP:0011856	Pica	1/7	OMIM:617360
8621	CDK13	HP:0003577	Congenital onset	7/7	OMIM:617360
8621	CDK13	HP:0002212	Curly hair	1/7	OMIM:617360
8621	CDK13	HP:0011968	Feeding difficulties	3/7	OMIM:617360
8621	CDK13	HP:0000691	Microdontia	1/7	OMIM:617360
8621	CDK13	HP:0004322	Short stature	2/5	OMIM:617360
8621	CDK13	HP:0006970	Periventricular leukomalacia	1/7	OMIM:617360
8621	CDK13	HP:0031936	Delayed ability to walk	5/5	OMIM:617360
8621	CDK13	HP:0012745	Short palpebral fissure	-	OMIM:617360
8621	CDK13	HP:0000750	Delayed speech and language development	4/5	OMIM:617360
8621	CDK13	HP:0000717	Autism	1/7	OMIM:617360
8621	CDK13	HP:0003298	Spina bifida occulta	1/7	OMIM:617360
8621	CDK13	HP:0000286	Epicanthus	2/7	OMIM:617360
8621	CDK13	HP:0000269	Prominent occiput	1/7	OMIM:617360
8621	CDK13	HP:0030084	Clinodactyly	5/7	OMIM:617360
8621	CDK13	HP:0000252	Microcephaly	3/7	OMIM:617360
8621	CDK13	HP:0000219	Thin upper lip vermilion	2/7	OMIM:617360
8621	CDK13	HP:0000215	Thick upper lip vermilion	1/7	OMIM:617360
8621	CDK13	HP:0001561	Polyhydramnios	1/7	OMIM:617360
8621	CDK13	HP:0000233	Thin vermilion border	1/7	OMIM:617360
8621	CDK13	HP:0000200	Short lingual frenulum	1/7	OMIM:617360
8621	CDK13	HP:0001511	Intrauterine growth retardation	1/7	OMIM:617360
8621	CDK13	HP:0012385	Camptodactyly	2/7	OMIM:617360
8621	CDK13	HP:0000396	Overfolded helix	1/7	OMIM:617360
8621	CDK13	HP:0000356	Abnormality of the outer ear	1/7	OMIM:617360
8621	CDK13	HP:0000358	Posteriorly rotated ears	2/7	OMIM:617360
8621	CDK13	HP:0000369	Low-set ears	1/7	OMIM:617360
8621	CDK13	HP:0000319	Smooth philtrum	1/7	OMIM:617360
8621	CDK13	HP:0000316	Hypertelorism	4/7	OMIM:617360
8621	CDK13	HP:0000322	Short philtrum	1/7	OMIM:617360
8621	CDK13	HP:0000324	Facial asymmetry	1/7	OMIM:617360
8621	CDK13	HP:0001629	Ventricular septal defect	3/7	OMIM:617360
8621	CDK13	HP:0001631	Atrial septal defect	5/7	OMIM:617360
8621	CDK13	HP:0006610	Wide intermamillary distance	2/7	OMIM:617360
8621	CDK13	HP:0000486	Strabismus	3/7	OMIM:617360
8621	CDK13	HP:0000414	Bulbous nose	1/7	OMIM:617360
8621	CDK13	HP:0000431	Wide nasal bridge	2/7	OMIM:617360
8621	CDK13	HP:0000426	Prominent nasal bridge	1/7	OMIM:617360
8621	CDK13	HP:0000506	Telecanthus	1/7	OMIM:617360
8621	CDK13	HP:0000508	Ptosis	1/7	OMIM:617360
8621	CDK13	HP:0000582	Upslanted palpebral fissure	5/7	OMIM:617360
8621	CDK13	HP:0000581	Blepharophimosis	1/7	OMIM:617360
8621	CDK13	HP:0000574	Thick eyebrow	1/7	OMIM:617360
8622	PDE8B	HP:0001288	Gait disturbance	HP:0040282	ORPHA:228169
8622	PDE8B	HP:0001288	Gait disturbance	7/7	OMIM:609161
8622	PDE8B	HP:0001260	Dysarthria	HP:0040281	ORPHA:228169
8622	PDE8B	HP:0001260	Dysarthria	1/1	OMIM:609161
8622	PDE8B	HP:0001350	Slurred speech	1/1	OMIM:609161
8622	PDE8B	HP:0001348	Brisk reflexes	1/1	OMIM:609161
8622	PDE8B	HP:0001337	Tremor	0/7	OMIM:609161
8622	PDE8B	HP:0000006	Autosomal dominant inheritance	-	OMIM:609161
8622	PDE8B	HP:0000006	Autosomal dominant inheritance	-	OMIM:614190
8622	PDE8B	HP:0002015	Dysphagia	HP:0040282	ORPHA:228169
8622	PDE8B	HP:0002067	Bradykinesia	1/1	OMIM:609161
8622	PDE8B	HP:0002067	Bradykinesia	HP:0040281	ORPHA:228169
8622	PDE8B	HP:0002063	Rigidity	7/7	OMIM:609161
8622	PDE8B	HP:0002063	Rigidity	HP:0040281	ORPHA:228169
8622	PDE8B	HP:0002075	Dysdiadochokinesis	HP:0040281	ORPHA:228169
8622	PDE8B	HP:0002075	Dysdiadochokinesis	7/7	OMIM:609161
8622	PDE8B	HP:0008221	Adrenal hyperplasia	-	OMIM:614190
8622	PDE8B	HP:0003596	Middle age onset	8/8	OMIM:609161
8622	PDE8B	HP:0007039	Symmetric T2-signal increase with T1-signal decrease in the putamen	1/1	OMIM:609161
8622	PDE8B	HP:0002395	Lower limb hyperreflexia	-	OMIM:609161
8622	PDE8B	HP:0002375	Hypokinesia	-	OMIM:609161
8622	PDE8B	HP:0003677	Slowly progressive	1/1	OMIM:609161
8622	PDE8B	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:228169
8622	PDE8B	HP:0003118	Increased circulating cortisol level	-	OMIM:614190
8622	PDE8B	HP:0040140	Degeneration of the striatum	1/1	OMIM:609161
8625	RFXANK	HP:0032218	Decreased proportion of CD4-positive T cells	HP:0040282	ORPHA:572
8625	RFXANK	HP:0032218	Decreased proportion of CD4-positive T cells	1/1	OMIM:620815
8625	RFXANK	HP:0032230	Cytoplasmic antineutrophil antibody positivity	2/16	OMIM:620815
8625	RFXANK	HP:0100806	Sepsis	2/2	OMIM:620815
8625	RFXANK	HP:0001252	Hypotonia	1/1	OMIM:620815
8625	RFXANK	HP:0001260	Dysarthria	HP:0040284	ORPHA:572
8625	RFXANK	HP:0001263	Global developmental delay	2/16	OMIM:620815
8625	RFXANK	HP:0025347	Decreased circulating beta-2-microglobulin level	HP:0040282	ORPHA:572
8625	RFXANK	HP:0000007	Autosomal recessive inheritance	-	OMIM:620815
8625	RFXANK	HP:0002783	Recurrent lower respiratory tract infections	1/1	OMIM:620815
8625	RFXANK	HP:0002788	Recurrent upper respiratory tract infections	7/16	OMIM:620815
8625	RFXANK	HP:0002718	Recurrent bacterial infections	HP:0040282	ORPHA:572
8625	RFXANK	HP:0002728	Chronic mucocutaneous candidiasis	HP:0040282	ORPHA:572
8625	RFXANK	HP:0002728	Chronic mucocutaneous candidiasis	1/1	OMIM:620815
8625	RFXANK	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040282	ORPHA:572
8625	RFXANK	HP:0002028	Chronic diarrhea	13/17	OMIM:620815
8625	RFXANK	HP:0030991	Sclerosing cholangitis	HP:0040282	ORPHA:572
8625	RFXANK	HP:0030991	Sclerosing cholangitis	1/16	OMIM:620815
8625	RFXANK	HP:0002014	Diarrhea	HP:0040282	ORPHA:572
8625	RFXANK	HP:0002066	Gait ataxia	HP:0040284	ORPHA:572
8625	RFXANK	HP:0002061	Lower limb spasticity	1/1	OMIM:620815
8625	RFXANK	HP:0004798	Recurrent infection of the gastrointestinal tract	HP:0040281	ORPHA:572
8625	RFXANK	HP:0003593	Infantile onset	13/17	OMIM:620815
8625	RFXANK	HP:0002240	Hepatomegaly	2/16	OMIM:620815
8625	RFXANK	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:572
8625	RFXANK	HP:0200124	Chronic hepatitis due to cryptosporidium infection	HP:0040282	ORPHA:572
8625	RFXANK	HP:0033431	Cytomegalovirus colitis	4/16	OMIM:620815
8625	RFXANK	HP:0001973	Autoimmune thrombocytopenia	HP:0040283	ORPHA:572
8625	RFXANK	HP:0001904	Autoimmune neutropenia	HP:0040283	ORPHA:572
8625	RFXANK	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:572
8625	RFXANK	HP:0004315	Decreased circulating IgG concentration	1/1	OMIM:620815
8625	RFXANK	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040282	ORPHA:572
8625	RFXANK	HP:0004385	Protracted diarrhea	HP:0040282	ORPHA:572
8625	RFXANK	HP:0011463	Childhood onset	3/16	OMIM:620815
8625	RFXANK	HP:0011462	Young adult onset	1/16	OMIM:620815
8625	RFXANK	HP:0004429	Recurrent viral infections	HP:0040282	ORPHA:572
8625	RFXANK	HP:0003139	Panhypogammaglobulinemia	HP:0040283	ORPHA:572
8625	RFXANK	HP:0000988	Skin rash	HP:0040283	ORPHA:572
8625	RFXANK	HP:0031402	Reduced antigen-specific T cell proliferation	1/1	OMIM:620815
8625	RFXANK	HP:0031390	Reduced MHC II cell surface expression	HP:0040280	ORPHA:572
8625	RFXANK	HP:0031394	Abnormal CD4:CD8 ratio	HP:0040283	ORPHA:572
8625	RFXANK	HP:0000246	Sinusitis	HP:0040282	ORPHA:572
8625	RFXANK	HP:0001508	Failure to thrive	HP:0040282	ORPHA:572
8625	RFXANK	HP:0001508	Failure to thrive	13/16	OMIM:620815
8625	RFXANK	HP:0031381	Decreased mitogen-induced T-cell proliferation	HP:0040283	ORPHA:572
8625	RFXANK	HP:0002841	Recurrent fungal infections	HP:0040282	ORPHA:572
8625	RFXANK	HP:0012384	Rhinitis	HP:0040282	ORPHA:572
8625	RFXANK	HP:0006532	Recurrent pneumonia	13/16	OMIM:620815
8625	RFXANK	HP:0000371	Acute otitis media	HP:0040283	ORPHA:572
8625	RFXANK	HP:0002960	Autoimmunity	HP:0040283	ORPHA:572
8625	RFXANK	HP:0005386	Recurrent protozoan infections	HP:0040282	ORPHA:572
8625	RFXANK	HP:0005354	Absent cellular immunity	HP:0040281	ORPHA:572
8625	RFXANK	HP:0005353	Recurrent herpes	HP:0040282	ORPHA:572
8625	RFXANK	HP:0005368	Abnormality of humoral immunity	HP:0040282	ORPHA:572
8625	RFXANK	HP:0012444	Brain atrophy	1/1	OMIM:620815
8625	RFXANK	HP:0005403	Decreased total T cell count	HP:0040283	ORPHA:572
8625	RFXANK	HP:0005401	Recurrent candida infections	HP:0040282	ORPHA:572
8625	RFXANK	HP:0001890	Autoimmune hemolytic anemia	HP:0040283	ORPHA:572
8625	RFXANK	HP:0001890	Autoimmune hemolytic anemia	3/16	OMIM:620815
8625	RFXANK	HP:0001876	Pancytopenia	HP:0040283	ORPHA:572
8625	RFXANK	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:572
8626	TP63	HP:0001171	Split hand	1/6	OMIM:604292
8626	TP63	HP:0001171	Split hand	HP:0040283	ORPHA:2440
8626	TP63	HP:0001171	Split hand	-	OMIM:103285
8626	TP63	HP:0001171	Split hand	-	OMIM:603543
8626	TP63	HP:0001171	Split hand	-	OMIM:605289
8626	TP63	HP:0001171	Split hand	HP:0040281	ORPHA:1896
8626	TP63	HP:0001159	Syndactyly	-	OMIM:129400
8626	TP63	HP:0001159	Syndactyly	-	OMIM:603543
8626	TP63	HP:0001159	Syndactyly	-	OMIM:605289
8626	TP63	HP:0001159	Syndactyly	HP:0040283	ORPHA:69085
8626	TP63	HP:0003765	Psoriasiform dermatitis	HP:0040284	ORPHA:69085
8626	TP63	HP:0003777	Pili torti	3/3	OMIM:106260
8626	TP63	HP:0009937	Facial hirsutism	2/5	OMIM:604292
8626	TP63	HP:0001199	Triphalangeal thumb	-	OMIM:605289
8626	TP63	HP:0008551	Microtia	-	OMIM:604292
8626	TP63	HP:0003764	Nevus	HP:0040283	ORPHA:1896
8626	TP63	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8626	TP63	HP:0001293	Cranial nerve compression	-	OMIM:131300
8626	TP63	HP:0001252	Hypotonia	2/7	OMIM:615777
8626	TP63	HP:0001249	Intellectual disability	HP:0040283	ORPHA:1896
8626	TP63	HP:0001249	Intellectual disability	0/3	OMIM:106260
8626	TP63	HP:0001249	Intellectual disability	7%	OMIM:604292
8626	TP63	HP:0001249	Intellectual disability	5/7	OMIM:615777
8626	TP63	HP:0001263	Global developmental delay	-	OMIM:615777
8626	TP63	HP:0002561	Absent nipple	HP:0040282	ORPHA:69085
8626	TP63	HP:0002561	Absent nipple	HP:0040282	ORPHA:978
8626	TP63	HP:0002561	Absent nipple	-	OMIM:103285
8626	TP63	HP:0002557	Hypoplastic nipples	6/6	OMIM:604292
8626	TP63	HP:0002557	Hypoplastic nipples	HP:0040282	ORPHA:978
8626	TP63	HP:0002557	Hypoplastic nipples	-	OMIM:103285
8626	TP63	HP:0002557	Hypoplastic nipples	-	OMIM:603543
8626	TP63	HP:0002557	Hypoplastic nipples	HP:0040282	ORPHA:69085
8626	TP63	HP:0002558	Supernumerary nipple	1/1	OMIM:129400
8626	TP63	HP:0002558	Supernumerary nipple	-	OMIM:106260
8626	TP63	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:93930
8626	TP63	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:2440
8626	TP63	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:978
8626	TP63	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:1896
8626	TP63	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:93930
8626	TP63	HP:0031088	Vaginal dryness	-	OMIM:106260
8626	TP63	HP:0008678	Renal hypoplasia/aplasia	HP:0040282	ORPHA:1896
8626	TP63	HP:0008661	Urethral stenosis	-	OMIM:604292
8626	TP63	HP:0002515	Waddling gait	54/102	OMIM:131300
8626	TP63	HP:0000081	Duplicated collecting system	-	OMIM:604292
8626	TP63	HP:0000068	Urethral atresia	HP:0040282	ORPHA:1896
8626	TP63	HP:0000059	Hypoplastic labia majora	-	OMIM:129400
8626	TP63	HP:0000076	Vesicoureteral reflux	-	OMIM:604292
8626	TP63	HP:0000076	Vesicoureteral reflux	HP:0040281	ORPHA:93930
8626	TP63	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:1896
8626	TP63	HP:0000072	Hydroureter	-	OMIM:604292
8626	TP63	HP:0000070	Ureterocele	-	OMIM:604292
8626	TP63	HP:0000069	Abnormality of the ureter	HP:0040282	ORPHA:93930
8626	TP63	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:604292
8626	TP63	HP:0000039	Epispadias	HP:0040281	ORPHA:93930
8626	TP63	HP:0000054	Micropenis	-	OMIM:604292
8626	TP63	HP:0000054	Micropenis	-	OMIM:106260
8626	TP63	HP:0000056	Abnormal clitoris morphology	HP:0040281	ORPHA:93930
8626	TP63	HP:0001382	Joint hypermobility	-	OMIM:615777
8626	TP63	HP:0000047	Hypospadias	6/12	OMIM:106260
8626	TP63	HP:0000047	Hypospadias	-	OMIM:129400
8626	TP63	HP:0000047	Hypospadias	HP:0040283	ORPHA:1896
8626	TP63	HP:0000021	Megacystis	-	OMIM:604292
8626	TP63	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:93930
8626	TP63	HP:0000015	Bladder diverticulum	-	OMIM:604292
8626	TP63	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8626	TP63	HP:0000028	Cryptorchidism	-	OMIM:604292
8626	TP63	HP:0007565	Multiple cafe-au-lait spots	HP:0040284	ORPHA:69085
8626	TP63	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8626	TP63	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199306
8626	TP63	HP:0007513	Generalized hypopigmentation	HP:0040282	ORPHA:1896
8626	TP63	HP:0007513	Generalized hypopigmentation	-	OMIM:604292
8626	TP63	HP:0007500	Decreased number of sweat glands	-	OMIM:129400
8626	TP63	HP:0410011	Abnormality of masticatory muscle	HP:0040282	ORPHA:141291
8626	TP63	HP:0410005	Cleft hard palate	HP:0040283	ORPHA:69085
8626	TP63	HP:0007476	Anhidrotic ectodermal dysplasia	-	OMIM:129400
8626	TP63	HP:0007455	Adermatoglyphia	-	OMIM:103285
8626	TP63	HP:0001328	Specific learning disability	HP:0040284	ORPHA:199302
8626	TP63	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8626	TP63	HP:0001324	Muscle weakness	40/96	OMIM:131300
8626	TP63	HP:0000010	Recurrent urinary tract infections	HP:0040282	ORPHA:93930
8626	TP63	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8626	TP63	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8626	TP63	HP:0002665	Lymphoma	HP:0040283	ORPHA:1896
8626	TP63	HP:0000006	Autosomal dominant inheritance	-	OMIM:129400
8626	TP63	HP:0000006	Autosomal dominant inheritance	-	OMIM:620311
8626	TP63	HP:0000006	Autosomal dominant inheritance	-	OMIM:604292
8626	TP63	HP:0000006	Autosomal dominant inheritance	-	OMIM:603543
8626	TP63	HP:0000006	Autosomal dominant inheritance	-	OMIM:106260
8626	TP63	HP:0000006	Autosomal dominant inheritance	-	OMIM:103285
8626	TP63	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8626	TP63	HP:0000006	Autosomal dominant inheritance	-	OMIM:605289
8626	TP63	HP:0002650	Scoliosis	12/14	OMIM:131300
8626	TP63	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8626	TP63	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8626	TP63	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8626	TP63	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:93930
8626	TP63	HP:0000198	Absence of Stensen duct	-	OMIM:604292
8626	TP63	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8626	TP63	HP:0000193	Bifid uvula	-	OMIM:129400
8626	TP63	HP:0000193	Bifid uvula	-	OMIM:603543
8626	TP63	HP:0000193	Bifid uvula	HP:0040283	ORPHA:69085
8626	TP63	HP:0012165	Oligodactyly	HP:0040283	ORPHA:69085
8626	TP63	HP:0012165	Oligodactyly	HP:0040282	ORPHA:1896
8626	TP63	HP:0012165	Oligodactyly	HP:0040281	ORPHA:2440
8626	TP63	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:978
8626	TP63	HP:0000160	Narrow mouth	1/1	OMIM:129400
8626	TP63	HP:0000175	Cleft palate	HP:0040282	ORPHA:199306
8626	TP63	HP:0000175	Cleft palate	-	OMIM:603543
8626	TP63	HP:0000175	Cleft palate	2/4	OMIM:106260
8626	TP63	HP:0000175	Cleft palate	HP:0040283	ORPHA:1072
8626	TP63	HP:0000175	Cleft palate	1/1	OMIM:129400
8626	TP63	HP:0000175	Cleft palate	HP:0040283	ORPHA:69085
8626	TP63	HP:0000175	Cleft palate	1/6	OMIM:604292
8626	TP63	HP:0000175	Cleft palate	2/7	OMIM:615777
8626	TP63	HP:0000175	Cleft palate	HP:0040283	ORPHA:1896
8626	TP63	HP:0000145	Transverse vaginal septum	-	OMIM:604292
8626	TP63	HP:0001480	Freckling	HP:0040284	ORPHA:69085
8626	TP63	HP:0001480	Freckling	HP:0040281	ORPHA:978
8626	TP63	HP:0001480	Freckling	-	OMIM:103285
8626	TP63	HP:0000151	Aplasia of the uterus	HP:0040284	ORPHA:69085
8626	TP63	HP:0006357	Premature loss of permanent teeth	-	OMIM:103285
8626	TP63	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:199306
8626	TP63	HP:0007678	Lacrimal duct stenosis	6/6	OMIM:604292
8626	TP63	HP:0006332	Supernumerary maxillary incisor	HP:0040283	ORPHA:199302
8626	TP63	HP:0410030	Cleft lip	1/3	OMIM:106260
8626	TP63	HP:0410030	Cleft lip	HP:0040283	ORPHA:69085
8626	TP63	HP:0410030	Cleft lip	HP:0040282	ORPHA:1896
8626	TP63	HP:0006292	Abnormality of dental eruption	HP:0040281	ORPHA:199306
8626	TP63	HP:0006297	Enamel hypoplasia	1/1	OMIM:129400
8626	TP63	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:141291
8626	TP63	HP:0000126	Hydronephrosis	-	OMIM:604292
8626	TP63	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:1896
8626	TP63	HP:0000110	Renal dysplasia	-	OMIM:604292
8626	TP63	HP:0000104	Renal agenesis	-	OMIM:604292
8626	TP63	HP:0002025	Anal stenosis	2/6	OMIM:604292
8626	TP63	HP:0002033	Poor suck	HP:0040282	ORPHA:199306
8626	TP63	HP:0004691	2-3 toe syndactyly	-	OMIM:106260
8626	TP63	HP:0002015	Dysphagia	HP:0040283	ORPHA:141291
8626	TP63	HP:0011819	Submucous cleft soft palate	HP:0040283	ORPHA:69085
8626	TP63	HP:0100533	Inflammatory abnormality of the eye	HP:0040282	ORPHA:1896
8626	TP63	HP:0003388	Easy fatigability	36/76	OMIM:131300
8626	TP63	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8626	TP63	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	-	OMIM:605289
8626	TP63	HP:0010465	Precocious puberty in females	1/4	OMIM:620311
8626	TP63	HP:0010464	Streak ovary	3/4	OMIM:620311
8626	TP63	HP:0010463	Aplasia of the ovary	HP:0040284	ORPHA:69085
8626	TP63	HP:0009473	Joint contracture of the hand	-	OMIM:603543
8626	TP63	HP:0011939	3-4 finger cutaneous syndactyly	HP:0040283	ORPHA:69085
8626	TP63	HP:0009623	Proximal placement of thumb	HP:0040283	ORPHA:1896
8626	TP63	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040283	ORPHA:1896
8626	TP63	HP:0002164	Nail dysplasia	-	OMIM:603543
8626	TP63	HP:0002164	Nail dysplasia	HP:0040283	ORPHA:69085
8626	TP63	HP:0008232	Elevated circulating follicle stimulating hormone level	11/11	OMIM:620311
8626	TP63	HP:0008214	Decreased serum estradiol	11/11	OMIM:620311
8626	TP63	HP:0003593	Infantile onset	2/6	OMIM:604292
8626	TP63	HP:0003577	Congenital onset	1/1	OMIM:106260
8626	TP63	HP:0003577	Congenital onset	1/6	OMIM:604292
8626	TP63	HP:0002217	Slow-growing hair	1/1	OMIM:129400
8626	TP63	HP:0002217	Slow-growing hair	HP:0040282	ORPHA:1896
8626	TP63	HP:0002215	Sparse axillary hair	-	OMIM:604292
8626	TP63	HP:0002215	Sparse axillary hair	-	OMIM:103285
8626	TP63	HP:0002235	Pili canaliculi	-	OMIM:129400
8626	TP63	HP:0002232	Patchy alopecia	-	OMIM:106260
8626	TP63	HP:0002231	Sparse body hair	3/3	OMIM:106260
8626	TP63	HP:0002225	Sparse pubic hair	-	OMIM:604292
8626	TP63	HP:0002213	Fine hair	-	OMIM:129400
8626	TP63	HP:0002213	Fine hair	HP:0040281	ORPHA:978
8626	TP63	HP:0002213	Fine hair	HP:0040283	ORPHA:1896
8626	TP63	HP:0002209	Sparse scalp hair	-	OMIM:604292
8626	TP63	HP:0002209	Sparse scalp hair	-	OMIM:103285
8626	TP63	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:978
8626	TP63	HP:0002208	Coarse hair	HP:0040281	ORPHA:1896
8626	TP63	HP:0200141	Small, conical teeth	-	OMIM:129400
8626	TP63	HP:0100783	Breast aplasia	HP:0040282	ORPHA:69085
8626	TP63	HP:0008404	Nail dystrophy	-	OMIM:604292
8626	TP63	HP:0008404	Nail dystrophy	3/3	OMIM:106260
8626	TP63	HP:0008404	Nail dystrophy	1/1	OMIM:129400
8626	TP63	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:1896
8626	TP63	HP:0200153	Agenesis of lateral incisor	HP:0040283	ORPHA:199306
8626	TP63	HP:0100798	Fingernail dysplasia	HP:0040281	ORPHA:978
8626	TP63	HP:0100797	Toenail dysplasia	HP:0040281	ORPHA:978
8626	TP63	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:199306
8626	TP63	HP:0002287	Progressive alopecia	-	OMIM:129400
8626	TP63	HP:0002286	Fair hair	-	OMIM:604292
8626	TP63	HP:0002286	Fair hair	-	OMIM:103285
8626	TP63	HP:0002293	Alopecia of scalp	-	OMIM:103285
8626	TP63	HP:0003510	Severe short stature	7/7	OMIM:615777
8626	TP63	HP:0002315	Headache	-	OMIM:131300
8626	TP63	HP:0004976	Knee dislocation	6/7	OMIM:615777
8626	TP63	HP:0200020	Corneal erosion	HP:0040282	ORPHA:1896
8626	TP63	HP:0001096	Keratoconjunctivitis	HP:0040282	ORPHA:1896
8626	TP63	HP:0001092	Absent lacrimal punctum	HP:0040282	ORPHA:69085
8626	TP63	HP:0001092	Absent lacrimal punctum	HP:0040281	ORPHA:1896
8626	TP63	HP:0001092	Absent lacrimal punctum	1/1	OMIM:129400
8626	TP63	HP:0009804	Tooth agenesis	HP:0040281	ORPHA:1896
8626	TP63	HP:0009803	Short phalanx of finger	-	OMIM:615777
8626	TP63	HP:0200042	Skin ulcer	HP:0040281	ORPHA:978
8626	TP63	HP:0009775	Amniotic constriction ring	HP:0040283	ORPHA:1072
8626	TP63	HP:0009763	Limb pain	63/92	OMIM:131300
8626	TP63	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	-	OMIM:605289
8626	TP63	HP:0009755	Ankyloblepharon	14/16	OMIM:106260
8626	TP63	HP:0009755	Ankyloblepharon	HP:0040281	ORPHA:1072
8626	TP63	HP:0003621	Juvenile onset	-	OMIM:131300
8626	TP63	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8626	TP63	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:69085
8626	TP63	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:141291
8626	TP63	HP:0009088	Speech articulation difficulties	HP:0040283	ORPHA:199302
8626	TP63	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:199306
8626	TP63	HP:0004275	Duplication of hand bones	HP:0040282	ORPHA:1896
8626	TP63	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8626	TP63	HP:0000635	Blue irides	-	OMIM:604292
8626	TP63	HP:0001964	Aplasia/Hypoplasia of metatarsal bones	-	OMIM:605289
8626	TP63	HP:0000632	Lacrimation abnormality	HP:0040281	ORPHA:1896
8626	TP63	HP:6001056	Out-toeing	-	OMIM:131300
8626	TP63	HP:0000651	Diplopia	-	OMIM:131300
8626	TP63	HP:0000613	Photophobia	-	OMIM:604292
8626	TP63	HP:0000613	Photophobia	HP:0040282	ORPHA:1896
8626	TP63	HP:0001956	Truncal obesity	2/7	OMIM:615777
8626	TP63	HP:0000620	Dacryocystitis	HP:0040282	ORPHA:1896
8626	TP63	HP:0000620	Dacryocystitis	-	OMIM:604292
8626	TP63	HP:0000621	Entropion	HP:0040283	ORPHA:1896
8626	TP63	HP:0001903	Anemia	HP:0040283	OMIM:131300
8626	TP63	HP:0010049	Short metacarpal	-	OMIM:615777
8626	TP63	HP:0000698	Conical tooth	-	OMIM:106260
8626	TP63	HP:0000698	Conical tooth	-	OMIM:129400
8626	TP63	HP:0000682	Abnormal dental enamel morphology	HP:0040281	ORPHA:1896
8626	TP63	HP:0000679	Taurodontia	1/1	OMIM:129400
8626	TP63	HP:0000679	Taurodontia	HP:0040281	ORPHA:1896
8626	TP63	HP:0000678	Dental crowding	-	OMIM:615777
8626	TP63	HP:0000677	Oligodontia	-	OMIM:103285
8626	TP63	HP:0000691	Microdontia	-	OMIM:604292
8626	TP63	HP:0000691	Microdontia	-	OMIM:103285
8626	TP63	HP:0000691	Microdontia	-	OMIM:129400
8626	TP63	HP:0000691	Microdontia	HP:0040281	ORPHA:1896
8626	TP63	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:199306
8626	TP63	HP:0000687	Widely spaced teeth	-	OMIM:106260
8626	TP63	HP:0000653	Sparse eyelashes	1/6	OMIM:604292
8626	TP63	HP:0000653	Sparse eyelashes	-	OMIM:106260
8626	TP63	HP:0000653	Sparse eyelashes	1/1	OMIM:129400
8626	TP63	HP:0000670	Carious teeth	-	OMIM:604292
8626	TP63	HP:0000670	Carious teeth	-	OMIM:131300
8626	TP63	HP:0000670	Carious teeth	1/1	OMIM:129400
8626	TP63	HP:0000670	Carious teeth	HP:0040281	ORPHA:1896
8626	TP63	HP:0011304	Broad thumb	2/7	OMIM:615777
8626	TP63	HP:0000668	Hypodontia	HP:0040283	ORPHA:141291
8626	TP63	HP:0000668	Hypodontia	HP:0040284	ORPHA:199302
8626	TP63	HP:0000668	Hypodontia	-	OMIM:103285
8626	TP63	HP:0000668	Hypodontia	-	OMIM:106260
8626	TP63	HP:0000668	Hypodontia	-	OMIM:615777
8626	TP63	HP:0000668	Hypodontia	1/1	OMIM:129400
8626	TP63	HP:0000668	Hypodontia	-	OMIM:603543
8626	TP63	HP:0000668	Hypodontia	HP:0040283	ORPHA:69085
8626	TP63	HP:0000664	Synophrys	-	OMIM:615777
8626	TP63	HP:0004322	Short stature	HP:0040283	ORPHA:1896
8626	TP63	HP:0004322	Short stature	-	OMIM:129400
8626	TP63	HP:0004334	Dermal atrophy	-	OMIM:103285
8626	TP63	HP:0004396	Poor appetite	-	OMIM:131300
8626	TP63	HP:0004395	Malnutrition	HP:0040283	ORPHA:199306
8626	TP63	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8626	TP63	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8626	TP63	HP:0004378	Abnormality of the anus	HP:0040281	ORPHA:93930
8626	TP63	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8626	TP63	HP:0003026	Short long bone	7/7	OMIM:615777
8626	TP63	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8626	TP63	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8626	TP63	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8626	TP63	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8626	TP63	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:199306
8626	TP63	HP:0000750	Delayed speech and language development	-	OMIM:615777
8626	TP63	HP:0000708	Atypical behavior	HP:0040283	ORPHA:199302
8626	TP63	HP:0000707	Abnormality of the nervous system	-	OMIM:106260
8626	TP63	HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	-	OMIM:605289
8626	TP63	HP:0011470	Nasogastric tube feeding in infancy	7/12	OMIM:106260
8626	TP63	HP:0011463	Childhood onset	3/6	OMIM:604292
8626	TP63	HP:0011462	Young adult onset	15/15	OMIM:620311
8626	TP63	HP:0011461	Fetal onset	7/7	OMIM:615777
8626	TP63	HP:0011438	Maternal teratogenic exposure	HP:0040283	ORPHA:199302
8626	TP63	HP:0000778	Hypoplasia of the thymus	HP:0040283	ORPHA:1896
8626	TP63	HP:0000774	Narrow chest	2/7	OMIM:615777
8626	TP63	HP:0000786	Primary amenorrhea	7/17	OMIM:620311
8626	TP63	HP:0000786	Primary amenorrhea	HP:0040284	ORPHA:69085
8626	TP63	HP:0040115	Abnormal Eustachian tube morphology	HP:0040283	ORPHA:199302
8626	TP63	HP:0005709	2-3 toe cutaneous syndactyly	1/1	OMIM:129400
8626	TP63	HP:0000926	Platyspondyly	1/7	OMIM:615777
8626	TP63	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:978
8626	TP63	HP:0003187	Breast hypoplasia	-	OMIM:103285
8626	TP63	HP:0003180	Flat acetabular roof	-	OMIM:615777
8626	TP63	HP:0004482	Relative macrocephaly	-	OMIM:615777
8626	TP63	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8626	TP63	HP:0000869	Secondary amenorrhea	10/15	OMIM:620311
8626	TP63	HP:0000863	Central diabetes insipidus	-	OMIM:604292
8626	TP63	HP:0000830	Anterior hypopituitarism	HP:0040283	ORPHA:1896
8626	TP63	HP:0012814	Bilateral breast hypoplasia	HP:0040282	ORPHA:69085
8626	TP63	HP:0100336	Bilateral cleft lip	HP:0040283	ORPHA:199302
8626	TP63	HP:0100337	Bilateral cleft palate	HP:0040283	ORPHA:199306
8626	TP63	HP:0100334	Unilateral cleft palate	HP:0040282	ORPHA:199306
8626	TP63	HP:0100335	Non-midline cleft of the upper lip	HP:0040282	ORPHA:199302
8626	TP63	HP:0100335	Non-midline cleft of the upper lip	HP:0040283	ORPHA:1072
8626	TP63	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:604292
8626	TP63	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:1896
8626	TP63	HP:0000823	Delayed puberty	-	OMIM:131300
8626	TP63	HP:0010294	Palate fistula	HP:0040283	ORPHA:199306
8626	TP63	HP:0000894	Short clavicles	-	OMIM:615777
8626	TP63	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8626	TP63	HP:0004502	Bilateral choanal atresia	1/1	OMIM:106260
8626	TP63	HP:0045075	Sparse eyebrow	1/6	OMIM:604292
8626	TP63	HP:0045075	Sparse eyebrow	1/1	OMIM:129400
8626	TP63	HP:0045075	Sparse eyebrow	HP:0040284	ORPHA:69085
8626	TP63	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:1896
8626	TP63	HP:0004590	Hypoplastic sacrum	1/3	OMIM:604292
8626	TP63	HP:0000995	Melanocytic nevus	HP:0040281	ORPHA:978
8626	TP63	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040283	ORPHA:1896
8626	TP63	HP:0100267	Lip pit	HP:0040281	ORPHA:141291
8626	TP63	HP:0100267	Lip pit	HP:0040283	ORPHA:1072
8626	TP63	HP:0100257	Ectrodactyly	HP:0040281	ORPHA:1896
8626	TP63	HP:0100257	Ectrodactyly	-	OMIM:605289
8626	TP63	HP:0100257	Ectrodactyly	-	OMIM:604292
8626	TP63	HP:0000992	Cutaneous photosensitivity	-	OMIM:103285
8626	TP63	HP:0000982	Palmoplantar keratoderma	-	OMIM:106260
8626	TP63	HP:0000982	Palmoplantar keratoderma	1/1	OMIM:129400
8626	TP63	HP:0000958	Dry skin	-	OMIM:103285
8626	TP63	HP:0000958	Dry skin	1/1	OMIM:129400
8626	TP63	HP:0000958	Dry skin	HP:0040283	ORPHA:69085
8626	TP63	HP:0000958	Dry skin	HP:0040281	ORPHA:978
8626	TP63	HP:0000958	Dry skin	HP:0040281	ORPHA:1896
8626	TP63	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8626	TP63	HP:0000953	Hyperpigmentation of the skin	-	OMIM:106260
8626	TP63	HP:0000970	Anhidrosis	3/3	OMIM:106260
8626	TP63	HP:0000968	Ectodermal dysplasia	1/1	OMIM:106260
8626	TP63	HP:0000968	Ectodermal dysplasia	-	OMIM:604292
8626	TP63	HP:0000968	Ectodermal dysplasia	HP:0040282	ORPHA:1896
8626	TP63	HP:0000968	Ectodermal dysplasia	-	OMIM:103285
8626	TP63	HP:0000964	Eczematoid dermatitis	-	OMIM:103285
8626	TP63	HP:0000966	Hypohidrosis	-	OMIM:129400
8626	TP63	HP:0000966	Hypohidrosis	-	OMIM:603543
8626	TP63	HP:0000966	Hypohidrosis	HP:0040283	ORPHA:69085
8626	TP63	HP:0000966	Hypohidrosis	HP:0040283	ORPHA:1896
8626	TP63	HP:0000963	Thin skin	-	OMIM:103285
8626	TP63	HP:0000963	Thin skin	-	OMIM:129400
8626	TP63	HP:0000963	Thin skin	HP:0040281	ORPHA:978
8626	TP63	HP:0000962	Hyperkeratosis	-	OMIM:604292
8626	TP63	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:1896
8626	TP63	HP:0008070	Sparse hair	20/20	OMIM:129400
8626	TP63	HP:0008070	Sparse hair	HP:0040283	ORPHA:1896
8626	TP63	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1896
8626	TP63	HP:0007717	Chronic irritative conjunctivitis	HP:0040283	ORPHA:69085
8626	TP63	HP:0000286	Epicanthus	1/7	OMIM:615777
8626	TP63	HP:0000280	Coarse facial features	2/7	OMIM:615777
8626	TP63	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:978
8626	TP63	HP:0001596	Alopecia	HP:0040284	ORPHA:69085
8626	TP63	HP:0001596	Alopecia	HP:0040282	ORPHA:978
8626	TP63	HP:0001592	Selective tooth agenesis	-	OMIM:106260
8626	TP63	HP:0001592	Selective tooth agenesis	-	OMIM:604292
8626	TP63	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:141291
8626	TP63	HP:0000271	Abnormality of the face	HP:0040283	ORPHA:978
8626	TP63	HP:0000272	Malar flattening	HP:0040284	ORPHA:69085
8626	TP63	HP:0000272	Malar flattening	-	OMIM:604292
8626	TP63	HP:0005105	Abnormal nasal morphology	HP:0040282	ORPHA:141291
8626	TP63	HP:0030056	Uncombable hair	1/1	OMIM:129400
8626	TP63	HP:0002827	Hip dislocation	3/7	OMIM:615777
8626	TP63	HP:0001572	Macrodontia	HP:0040283	ORPHA:199302
8626	TP63	HP:0000252	Microcephaly	-	OMIM:615777
8626	TP63	HP:0000220	Velopharyngeal insufficiency	-	OMIM:129400
8626	TP63	HP:0000220	Velopharyngeal insufficiency	HP:0040283	ORPHA:199302
8626	TP63	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:199306
8626	TP63	HP:0000217	Xerostomia	-	OMIM:604292
8626	TP63	HP:0000217	Xerostomia	HP:0040283	ORPHA:1896
8626	TP63	HP:0001545	Anteriorly placed anus	2/6	OMIM:604292
8626	TP63	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:199302
8626	TP63	HP:0002857	Genu valgum	-	OMIM:131300
8626	TP63	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:199302
8626	TP63	HP:0001537	Umbilical hernia	HP:0040281	ORPHA:93930
8626	TP63	HP:0001539	Omphalocele	HP:0040283	ORPHA:93930
8626	TP63	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:199306
8626	TP63	HP:0000202	Orofacial cleft	-	OMIM:103285
8626	TP63	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:1896
8626	TP63	HP:0001533	Slender build	-	OMIM:131300
8626	TP63	HP:0000204	Cleft upper lip	0/6	OMIM:604292
8626	TP63	HP:0000204	Cleft upper lip	10/12	OMIM:106260
8626	TP63	HP:0000204	Cleft upper lip	1/1	OMIM:129400
8626	TP63	HP:0002836	Bladder exstrophy	HP:0040281	ORPHA:93930
8626	TP63	HP:0001518	Small for gestational age	HP:0040283	ORPHA:199302
8626	TP63	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8626	TP63	HP:0007807	Optic nerve compression	-	OMIM:131300
8626	TP63	HP:0012385	Camptodactyly	-	OMIM:603543
8626	TP63	HP:0012368	Flat face	7/7	OMIM:615777
8626	TP63	HP:0011044	Abnormal number of permanent teeth	HP:0040283	ORPHA:199306
8626	TP63	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:1896
8626	TP63	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:199302
8626	TP63	HP:0005216	Impaired mastication	HP:0040282	ORPHA:141291
8626	TP63	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8626	TP63	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:141291
8626	TP63	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:199306
8626	TP63	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:978
8626	TP63	HP:0001696	Situs inversus totalis	HP:0040284	ORPHA:199302
8626	TP63	HP:0000365	Hearing impairment	10/67	OMIM:131300
8626	TP63	HP:0000365	Hearing impairment	-	OMIM:129400
8626	TP63	HP:0000365	Hearing impairment	-	OMIM:604292
8626	TP63	HP:0000359	Abnormality of the inner ear	HP:0040283	ORPHA:1896
8626	TP63	HP:0000370	Abnormality of the middle ear	HP:0040283	ORPHA:1896
8626	TP63	HP:0000343	Long philtrum	1/7	OMIM:615777
8626	TP63	HP:0011001	Increased bone mineral density	-	OMIM:131300
8626	TP63	HP:0000348	High forehead	-	OMIM:129400
8626	TP63	HP:0031469	Low self-esteem	HP:0040283	ORPHA:199302
8626	TP63	HP:0001643	Patent ductus arteriosus	-	OMIM:106260
8626	TP63	HP:0000311	Round face	2/7	OMIM:615777
8626	TP63	HP:0000327	Hypoplasia of the maxilla	-	OMIM:604292
8626	TP63	HP:0000327	Hypoplasia of the maxilla	HP:0040284	ORPHA:199306
8626	TP63	HP:0000327	Hypoplasia of the maxilla	-	OMIM:106260
8626	TP63	HP:0000327	Hypoplasia of the maxilla	-	OMIM:129400
8626	TP63	HP:0001629	Ventricular septal defect	-	OMIM:106260
8626	TP63	HP:0002970	Genu varum	-	OMIM:615777
8626	TP63	HP:0000300	Oval face	-	OMIM:106260
8626	TP63	HP:0000303	Mandibular prognathia	-	OMIM:131300
8626	TP63	HP:0006610	Wide intermamillary distance	-	OMIM:103285
8626	TP63	HP:0000498	Blepharitis	-	OMIM:106260
8626	TP63	HP:0000498	Blepharitis	-	OMIM:604292
8626	TP63	HP:0000498	Blepharitis	HP:0040283	ORPHA:69085
8626	TP63	HP:0000498	Blepharitis	HP:0040282	ORPHA:1896
8626	TP63	HP:0004058	Hand monodactyly	HP:0040282	ORPHA:2440
8626	TP63	HP:0004050	Absent hand	HP:0040283	ORPHA:2440
8626	TP63	HP:0005324	Disturbance of facial expression	HP:0040282	ORPHA:141291
8626	TP63	HP:0001739	Abnormal nasopharynx morphology	-	OMIM:604292
8626	TP63	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:1896
8626	TP63	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2440
8626	TP63	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:199306
8626	TP63	HP:0000403	Recurrent otitis media	-	OMIM:129400
8626	TP63	HP:0000405	Conductive hearing impairment	HP:0040284	ORPHA:199302
8626	TP63	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:199306
8626	TP63	HP:0000405	Conductive hearing impairment	-	OMIM:106260
8626	TP63	HP:0000402	Stenosis of the external auditory canal	1/1	OMIM:129400
8626	TP63	HP:0005280	Depressed nasal bridge	-	OMIM:129400
8626	TP63	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8626	TP63	HP:0000491	Keratitis	HP:0040282	ORPHA:1896
8626	TP63	HP:0001792	Small nail	-	OMIM:129400
8626	TP63	HP:0001795	Hyperconvex nail	-	OMIM:106260
8626	TP63	HP:0000460	Narrow nose	-	OMIM:129400
8626	TP63	HP:0000470	Short neck	1/7	OMIM:615777
8626	TP63	HP:0001798	Anonychia	-	OMIM:106260
8626	TP63	HP:0001770	Toe syndactyly	-	OMIM:604292
8626	TP63	HP:0001770	Toe syndactyly	-	OMIM:103285
8626	TP63	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:978
8626	TP63	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:69085
8626	TP63	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:1896
8626	TP63	HP:0000437	Depressed nasal tip	-	OMIM:604292
8626	TP63	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8626	TP63	HP:0001763	Pes planus	1/7	OMIM:615777
8626	TP63	HP:0000453	Choanal atresia	-	OMIM:604292
8626	TP63	HP:0000453	Choanal atresia	HP:0040283	ORPHA:1896
8626	TP63	HP:0000419	Abnormal nasal septum morphology	HP:0040283	ORPHA:141291
8626	TP63	HP:0000411	Protruding ear	HP:0040284	ORPHA:69085
8626	TP63	HP:0000413	Atresia of the external auditory canal	-	OMIM:106260
8626	TP63	HP:0001762	Talipes equinovarus	HP:0040284	ORPHA:199302
8626	TP63	HP:0000431	Wide nasal bridge	-	OMIM:106260
8626	TP63	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:978
8626	TP63	HP:0000430	Underdeveloped nasal alae	-	OMIM:129400
8626	TP63	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:978
8626	TP63	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040283	ORPHA:1896
8626	TP63	HP:0001840	Metatarsus adductus	-	OMIM:615777
8626	TP63	HP:0000526	Aniridia	HP:0040283	ORPHA:2440
8626	TP63	HP:0000520	Proptosis	2/4	OMIM:131300
8626	TP63	HP:0000520	Proptosis	7/7	OMIM:615777
8626	TP63	HP:0000522	Alacrima	3/3	OMIM:106260
8626	TP63	HP:0001822	Hallux valgus	-	OMIM:603543
8626	TP63	HP:0000509	Conjunctivitis	-	OMIM:103285
8626	TP63	HP:0000509	Conjunctivitis	-	OMIM:106260
8626	TP63	HP:0001839	Split foot	-	OMIM:603543
8626	TP63	HP:0001839	Split foot	-	OMIM:605289
8626	TP63	HP:0001839	Split foot	1/6	OMIM:604292
8626	TP63	HP:0001839	Split foot	HP:0040281	ORPHA:1896
8626	TP63	HP:0001839	Split foot	HP:0040282	ORPHA:2440
8626	TP63	HP:0001839	Split foot	HP:0040281	ORPHA:978
8626	TP63	HP:0001839	Split foot	-	OMIM:103285
8626	TP63	HP:0000508	Ptosis	-	OMIM:129400
8626	TP63	HP:0001805	Onychogryphosis	-	OMIM:129400
8626	TP63	HP:0001803	Nail pits	HP:0040281	ORPHA:1896
8626	TP63	HP:0001803	Nail pits	HP:0040281	ORPHA:978
8626	TP63	HP:0001803	Nail pits	-	OMIM:103285
8626	TP63	HP:0001803	Nail pits	-	OMIM:604292
8626	TP63	HP:0000581	Blepharophimosis	-	OMIM:604292
8626	TP63	HP:0000579	Nasolacrimal duct obstruction	HP:0040281	ORPHA:978
8626	TP63	HP:0000579	Nasolacrimal duct obstruction	-	OMIM:103285
8626	TP63	HP:0000592	Blue sclerae	2/7	OMIM:615777
8626	TP63	HP:0000561	Absent eyelashes	-	OMIM:106260
8626	TP63	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:1896
8626	TP63	HP:0000564	Lacrimal duct atresia	10/12	OMIM:106260
8626	TP63	HP:0000564	Lacrimal duct atresia	-	OMIM:603543
8626	TP63	HP:0000564	Lacrimal duct atresia	HP:0040282	ORPHA:69085
8626	TP63	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8626	TP63	HP:0012514	Lower limb pain	4/4	OMIM:131300
8629	JRK	HP:0001249	Intellectual disability	-	ORPHA:307
8629	JRK	HP:0001249	Intellectual disability	HP:0040283	ORPHA:64280
8629	JRK	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:64280
8629	JRK	HP:0001328	Specific learning disability	HP:0040283	ORPHA:64280
8629	JRK	HP:0000153	Abnormality of the mouth	HP:0040282	ORPHA:307
8629	JRK	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:64280
8629	JRK	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:307
8629	JRK	HP:0002133	Status epilepticus	HP:0040284	ORPHA:307
8629	JRK	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:307
8629	JRK	HP:0010522	Dyslexia	HP:0040283	ORPHA:64280
8629	JRK	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:64280
8629	JRK	HP:0007000	Morning myoclonic jerks	HP:0040281	ORPHA:307
8629	JRK	HP:0002392	EEG with polyspike wave complexes	HP:0040281	ORPHA:307
8629	JRK	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:64280
8629	JRK	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:307
8629	JRK	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	HP:0040281	ORPHA:64280
8629	JRK	HP:0007207	Photosensitive tonic-clonic seizure	HP:0040283	ORPHA:307
8629	JRK	HP:0010794	Impaired visuospatial constructive cognition	HP:0040283	ORPHA:64280
8629	JRK	HP:0006961	Jerky head movements	HP:0040284	ORPHA:64280
8629	JRK	HP:0000739	Anxiety	HP:0040283	ORPHA:64280
8629	JRK	HP:0000716	Depression	HP:0040283	ORPHA:64280
8629	JRK	HP:0000718	Aggressive behavior	HP:0040284	ORPHA:307
8629	JRK	HP:0045084	Limb myoclonus	HP:0040284	ORPHA:64280
8629	JRK	HP:0000980	Pallor	HP:0040282	ORPHA:64280
8629	JRK	HP:0007738	Uncontrolled eye movements	HP:0040283	ORPHA:64280
8629	JRK	HP:0002883	Hyperventilation	HP:0040283	ORPHA:64280
8629	JRK	HP:0031469	Low self-esteem	HP:0040283	ORPHA:64280
8629	JRK	HP:0011147	Typical absence seizure	HP:0040281	ORPHA:64280
8629	JRK	HP:0011150	Myoclonic absence seizure	HP:0040283	ORPHA:64280
8629	JRK	HP:0030218	Punding	HP:0040283	ORPHA:64280
8629	JRK	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:307
8629	JRK	HP:0012433	Abnormal social behavior	HP:0040283	ORPHA:64280
8632	DNAH17	HP:0000007	Autosomal recessive inheritance	-	OMIM:618643
8632	DNAH17	HP:0032558	Absent sperm flagella	-	OMIM:618643
8632	DNAH17	HP:0032559	Short sperm flagella	-	OMIM:618643
8632	DNAH17	HP:0032560	Coiled sperm flagella	-	OMIM:618643
8632	DNAH17	HP:0032562	Tapered sperm head	-	OMIM:618643
8632	DNAH17	HP:0011462	Young adult onset	5/5	OMIM:618643
8632	DNAH17	HP:0000798	Oligozoospermia	-	OMIM:618643
8632	DNAH17	HP:0003251	Male infertility	5/5	OMIM:618643
8632	DNAH17	HP:0012207	Reduced sperm motility	15/15	OMIM:618643
8635	RNASET2	HP:0002465	Poor speech	-	OMIM:612951
8635	RNASET2	HP:0001250	Seizure	5/7	OMIM:612951
8635	RNASET2	HP:0001251	Ataxia	HP:0040283	OMIM:612951
8635	RNASET2	HP:0001263	Global developmental delay	7/7	OMIM:612951
8635	RNASET2	HP:0001257	Spasticity	6/7	OMIM:612951
8635	RNASET2	HP:0002514	Cerebral calcification	HP:0040283	OMIM:612951
8635	RNASET2	HP:0001332	Dystonia	1/7	OMIM:612951
8635	RNASET2	HP:0000007	Autosomal recessive inheritance	-	OMIM:612951
8635	RNASET2	HP:0002119	Ventriculomegaly	HP:0040283	OMIM:612951
8635	RNASET2	HP:0003593	Infantile onset	7/7	OMIM:612951
8635	RNASET2	HP:0007042	Focal white matter lesions	-	OMIM:612951
8635	RNASET2	HP:0002352	Leukoencephalopathy	HP:0040283	OMIM:612951
8635	RNASET2	HP:0003677	Slowly progressive	-	OMIM:612951
8635	RNASET2	HP:0002305	Athetosis	HP:0040283	OMIM:612951
8635	RNASET2	HP:0000639	Nystagmus	HP:0040283	OMIM:612951
8635	RNASET2	HP:0011344	Severe global developmental delay	HP:0040283	OMIM:612951
8635	RNASET2	HP:0011400	Abnormal CNS myelination	HP:0040283	OMIM:612951
8635	RNASET2	HP:0000750	Delayed speech and language development	7/7	OMIM:612951
8635	RNASET2	HP:0000295	Doll-like facies	HP:0040283	OMIM:612951
8635	RNASET2	HP:0000252	Microcephaly	2/7	OMIM:612951
8635	RNASET2	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:612951
8642	DCHS1	HP:0001159	Syndactyly	HP:0040282	ORPHA:314679
8642	DCHS1	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0008551	Microtia	4/4	OMIM:601390
8642	DCHS1	HP:0008551	Microtia	HP:0040281	ORPHA:314679
8642	DCHS1	HP:0009879	Simplified gyral pattern	-	OMIM:601390
8642	DCHS1	HP:0001290	Generalized hypotonia	-	OMIM:601390
8642	DCHS1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0001252	Hypotonia	2/2	OMIM:601390
8642	DCHS1	HP:0001251	Ataxia	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0001249	Intellectual disability	-	OMIM:601390
8642	DCHS1	HP:0001263	Global developmental delay	3/3	OMIM:601390
8642	DCHS1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:314679
8642	DCHS1	HP:0032388	Periventricular nodular heterotopia	4/4	OMIM:601390
8642	DCHS1	HP:0003831	Typified by age-related disease onset	-	OMIM:607829
8642	DCHS1	HP:0000089	Renal hypoplasia	3/4	OMIM:601390
8642	DCHS1	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:314679
8642	DCHS1	HP:0001382	Joint hypermobility	-	OMIM:601390
8642	DCHS1	HP:0000047	Hypospadias	-	OMIM:601390
8642	DCHS1	HP:0000047	Hypospadias	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:314679
8642	DCHS1	HP:0032409	Subcortical band heterotopia	-	OMIM:601390
8642	DCHS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:601390
8642	DCHS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
8642	DCHS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
8642	DCHS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:607829
8642	DCHS1	HP:0001302	Pachygyria	-	OMIM:601390
8642	DCHS1	HP:0002652	Skeletal dysplasia	-	OMIM:601390
8642	DCHS1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0002650	Scoliosis	-	OMIM:601390
8642	DCHS1	HP:0002619	Varicose veins	-	OMIM:153400
8642	DCHS1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0000175	Cleft palate	5/39	OMIM:153400
8642	DCHS1	HP:0008947	Floppy infant	HP:0040281	ORPHA:314679
8642	DCHS1	HP:0002779	Tracheomalacia	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0002779	Tracheomalacia	1/4	OMIM:601390
8642	DCHS1	HP:0002778	Abnormal tracheal morphology	HP:0040282	ORPHA:314679
8642	DCHS1	HP:0002714	Downturned corners of mouth	-	OMIM:601390
8642	DCHS1	HP:0002025	Anal stenosis	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0002023	Anal atresia	-	OMIM:601390
8642	DCHS1	HP:0004689	Short fourth metatarsal	-	OMIM:601390
8642	DCHS1	HP:0011800	Midface retrusion	-	OMIM:601390
8642	DCHS1	HP:0002079	Hypoplasia of the corpus callosum	2/4	OMIM:601390
8642	DCHS1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0008197	Absence of pubertal development	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0010554	Cutaneous finger syndactyly	-	OMIM:601390
8642	DCHS1	HP:0010537	Wide cranial sutures	-	OMIM:601390
8642	DCHS1	HP:0003577	Congenital onset	4/4	OMIM:601390
8642	DCHS1	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
8642	DCHS1	HP:0200138	Bilateral choanal atresia/stenosis	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0009743	Distichiasis	42/42	OMIM:153400
8642	DCHS1	HP:0002282	Gray matter heterotopia	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0002282	Gray matter heterotopia	-	OMIM:601390
8642	DCHS1	HP:0011968	Feeding difficulties	4/4	OMIM:601390
8642	DCHS1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:314679
8642	DCHS1	HP:0001004	Lymphedema	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0001004	Lymphedema	-	OMIM:153400
8642	DCHS1	HP:0100658	Cellulitis	2/6	OMIM:153400
8642	DCHS1	HP:0010804	Tented upper lip vermilion	-	OMIM:601390
8642	DCHS1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
8642	DCHS1	HP:0000613	Photophobia	10/49	OMIM:153400
8642	DCHS1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
8642	DCHS1	HP:0010044	Short 4th metacarpal	-	OMIM:601390
8642	DCHS1	HP:0000689	Dental malocclusion	-	OMIM:601390
8642	DCHS1	HP:0000656	Ectropion	2/43	OMIM:153400
8642	DCHS1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:314679
8642	DCHS1	HP:0006989	Dysplastic corpus callosum	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0004322	Short stature	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0003048	Radial head subluxation	3/4	OMIM:601390
8642	DCHS1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
8642	DCHS1	HP:0012745	Short palpebral fissure	-	OMIM:601390
8642	DCHS1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040282	ORPHA:314679
8642	DCHS1	HP:0000774	Narrow chest	3/4	OMIM:601390
8642	DCHS1	HP:0004467	Preauricular pit	-	OMIM:187500
8642	DCHS1	HP:0012804	Corneal ulceration	-	OMIM:153400
8642	DCHS1	HP:0040079	Irregular dentition	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0040079	Irregular dentition	-	OMIM:601390
8642	DCHS1	HP:0000894	Short clavicles	3/4	OMIM:601390
8642	DCHS1	HP:0010310	Chylothorax	1/6	OMIM:153400
8642	DCHS1	HP:0000960	Sacral dimple	-	OMIM:601390
8642	DCHS1	HP:0000938	Osteopenia	3/4	OMIM:601390
8642	DCHS1	HP:0000938	Osteopenia	HP:0040282	ORPHA:314679
8642	DCHS1	HP:0011675	Arrhythmia	-	OMIM:153400
8642	DCHS1	HP:0000286	Epicanthus	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0000286	Epicanthus	-	OMIM:601390
8642	DCHS1	HP:0000260	Wide anterior fontanel	4/4	OMIM:601390
8642	DCHS1	HP:0000272	Malar flattening	-	OMIM:601390
8642	DCHS1	HP:0002825	Caudal appendage	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0030084	Clinodactyly	-	OMIM:601390
8642	DCHS1	HP:0002808	Kyphosis	2/5	OMIM:153400
8642	DCHS1	HP:0000239	Large fontanelles	HP:0040282	ORPHA:314679
8642	DCHS1	HP:0000252	Microcephaly	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0000218	High palate	-	OMIM:601390
8642	DCHS1	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0001545	Anteriorly placed anus	1/4	OMIM:601390
8642	DCHS1	HP:0000204	Cleft upper lip	-	OMIM:153400
8642	DCHS1	HP:0001510	Growth delay	-	OMIM:601390
8642	DCHS1	HP:0012385	Camptodactyly	4/4	OMIM:601390
8642	DCHS1	HP:0012385	Camptodactyly	HP:0040281	ORPHA:314679
8642	DCHS1	HP:0000341	Narrow forehead	-	OMIM:601390
8642	DCHS1	HP:0000337	Broad forehead	-	OMIM:187500
8642	DCHS1	HP:0000347	Micrognathia	HP:0040282	ORPHA:314679
8642	DCHS1	HP:0000347	Micrognathia	2/5	OMIM:153400
8642	DCHS1	HP:0000347	Micrognathia	4/4	OMIM:601390
8642	DCHS1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0000316	Hypertelorism	-	OMIM:601390
8642	DCHS1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
8642	DCHS1	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0000327	Hypoplasia of the maxilla	3/4	OMIM:601390
8642	DCHS1	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0001653	Mitral regurgitation	-	OMIM:607829
8642	DCHS1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
8642	DCHS1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
8642	DCHS1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
8642	DCHS1	HP:0001634	Mitral valve prolapse	-	OMIM:607829
8642	DCHS1	HP:0000407	Sensorineural hearing impairment	4/4	OMIM:601390
8642	DCHS1	HP:0000405	Conductive hearing impairment	4/4	OMIM:601390
8642	DCHS1	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:314679
8642	DCHS1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
8642	DCHS1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
8642	DCHS1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
8642	DCHS1	HP:0000465	Webbed neck	6/43	OMIM:153400
8642	DCHS1	HP:0000413	Atresia of the external auditory canal	-	OMIM:601390
8642	DCHS1	HP:0001760	Abnormal foot morphology	-	OMIM:601390
8642	DCHS1	HP:0001762	Talipes equinovarus	-	OMIM:601390
8642	DCHS1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0000431	Wide nasal bridge	-	OMIM:601390
8642	DCHS1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0000520	Proptosis	-	OMIM:187500
8642	DCHS1	HP:0000509	Conjunctivitis	-	OMIM:153400
8642	DCHS1	HP:0000508	Ptosis	2/39	OMIM:153400
8642	DCHS1	HP:0000508	Ptosis	-	OMIM:601390
8642	DCHS1	HP:0000581	Blepharophimosis	-	OMIM:601390
8642	DCHS1	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:314679
8642	DCHS1	HP:0000568	Microphthalmia	1/6	OMIM:153400
8643	PTCH2	HP:0001156	Brachydactyly	HP:0040282	ORPHA:377
8643	PTCH2	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:377
8643	PTCH2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:377
8643	PTCH2	HP:0002514	Cerebral calcification	HP:0040281	ORPHA:377
8643	PTCH2	HP:0003829	Typified by incomplete penetrance	-	OMIM:155255
8643	PTCH2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:377
8643	PTCH2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:377
8643	PTCH2	HP:0002664	Neoplasm	HP:0040281	ORPHA:377
8643	PTCH2	HP:0002671	Basal cell carcinoma	-	OMIM:605462
8643	PTCH2	HP:0002671	Basal cell carcinoma	HP:0040282	ORPHA:377
8643	PTCH2	HP:0000007	Autosomal recessive inheritance	-	OMIM:155255
8643	PTCH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:155255
8643	PTCH2	HP:0002650	Scoliosis	HP:0040282	ORPHA:377
8643	PTCH2	HP:0001442	Typified by somatic mosaicism	-	OMIM:155255
8643	PTCH2	HP:0002007	Frontal bossing	HP:0040283	ORPHA:377
8643	PTCH2	HP:0003468	Abnormal vertebral morphology	HP:0040283	ORPHA:377
8643	PTCH2	HP:0010603	Odontogenic keratocysts of the jaw	HP:0040282	ORPHA:377
8643	PTCH2	HP:0010618	Ovarian fibroma	HP:0040283	ORPHA:377
8643	PTCH2	HP:0010617	Cardiac fibroma	HP:0040284	ORPHA:377
8643	PTCH2	HP:0010610	Palmar pits	HP:0040281	ORPHA:377
8643	PTCH2	HP:0010612	Plantar pits	HP:0040281	ORPHA:377
8643	PTCH2	HP:0008422	Vertebral wedging	HP:0040282	ORPHA:377
8643	PTCH2	HP:0000612	Iris coloboma	HP:0040283	ORPHA:377
8643	PTCH2	HP:0000670	Carious teeth	HP:0040283	ORPHA:377
8643	PTCH2	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:377
8643	PTCH2	HP:0004408	Abnormality of the sense of smell	HP:0040283	ORPHA:377
8643	PTCH2	HP:0000907	Anterior rib cupping	HP:0040282	ORPHA:377
8643	PTCH2	HP:0000902	Rib fusion	HP:0040282	ORPHA:377
8643	PTCH2	HP:0000892	Bifid ribs	HP:0040282	ORPHA:377
8643	PTCH2	HP:0000995	Melanocytic nevus	HP:0040281	ORPHA:377
8643	PTCH2	HP:0000286	Epicanthus	HP:0040283	ORPHA:377
8643	PTCH2	HP:0000280	Coarse facial features	HP:0040283	ORPHA:377
8643	PTCH2	HP:0000256	Macrocephaly	HP:0040282	ORPHA:377
8643	PTCH2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:377
8643	PTCH2	HP:0000248	Brachycephaly	HP:0040283	ORPHA:377
8643	PTCH2	HP:0002885	Medulloblastoma	HP:0040284	ORPHA:377
8643	PTCH2	HP:0002885	Medulloblastoma	-	OMIM:155255
8643	PTCH2	HP:0002858	Meningioma	HP:0040283	ORPHA:377
8643	PTCH2	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:377
8643	PTCH2	HP:0002937	Hemivertebrae	HP:0040283	ORPHA:377
8643	PTCH2	HP:0002948	Vertebral fusion	HP:0040282	ORPHA:377
8643	PTCH2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:377
8643	PTCH2	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:377
8643	PTCH2	HP:0000486	Strabismus	HP:0040283	ORPHA:377
8643	PTCH2	HP:0000464	Abnormality of the neck	HP:0040282	ORPHA:377
8643	PTCH2	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:377
8643	PTCH2	HP:0005449	Bridged sella turcica	HP:0040283	ORPHA:377
8643	PTCH2	HP:0005462	Calcification of falx cerebri	HP:0040282	ORPHA:377
8643	PTCH2	HP:0000518	Cataract	HP:0040283	ORPHA:377
8643	PTCH2	HP:0000506	Telecanthus	HP:0040283	ORPHA:377
8643	PTCH2	HP:0000501	Glaucoma	HP:0040283	ORPHA:377
8647	ABCB11	HP:0003819	Death in childhood	-	OMIM:601847
8647	ABCB11	HP:0001394	Cirrhosis	-	OMIM:601847
8647	ABCB11	HP:0001394	Cirrhosis	2/2	OMIM:602347
8647	ABCB11	HP:0000007	Autosomal recessive inheritance	-	OMIM:602347
8647	ABCB11	HP:0000007	Autosomal recessive inheritance	-	OMIM:605479
8647	ABCB11	HP:0000007	Autosomal recessive inheritance	-	OMIM:601847
8647	ABCB11	HP:0001337	Tremor	HP:0040284	ORPHA:69665
8647	ABCB11	HP:0002643	Neonatal respiratory distress	HP:0040283	ORPHA:69665
8647	ABCB11	HP:0002630	Fat malabsorption	-	OMIM:601847
8647	ABCB11	HP:0012164	Asterixis	HP:0040284	ORPHA:69665
8647	ABCB11	HP:0001408	Bile duct proliferation	1/2	OMIM:602347
8647	ABCB11	HP:0001406	Intrahepatic cholestasis	-	OMIM:601847
8647	ABCB11	HP:0001406	Intrahepatic cholestasis	-	OMIM:602347
8647	ABCB11	HP:0001406	Intrahepatic cholestasis	HP:0040283	OMIM:605479
8647	ABCB11	HP:0001402	Hepatocellular carcinoma	-	OMIM:601847
8647	ABCB11	HP:0031248	Palmar pruritus	HP:0040283	ORPHA:69665
8647	ABCB11	HP:0002024	Malabsorption	-	OMIM:602347
8647	ABCB11	HP:0002027	Abdominal pain	HP:0040284	ORPHA:69665
8647	ABCB11	HP:0002014	Diarrhea	-	OMIM:601847
8647	ABCB11	HP:0002014	Diarrhea	2/2	OMIM:602347
8647	ABCB11	HP:0030900	Pruritus on foot	HP:0040283	ORPHA:69665
8647	ABCB11	HP:0033196	Portal inflammation	1/2	OMIM:602347
8647	ABCB11	HP:0030948	Elevated gamma-glutamyltransferase level	2/2	OMIM:602347
8647	ABCB11	HP:0003593	Infantile onset	2/2	OMIM:602347
8647	ABCB11	HP:0003593	Infantile onset	-	OMIM:601847
8647	ABCB11	HP:0002240	Hepatomegaly	2/2	OMIM:602347
8647	ABCB11	HP:0002240	Hepatomegaly	-	OMIM:601847
8647	ABCB11	HP:0002240	Hepatomegaly	-	OMIM:605479
8647	ABCB11	HP:0100785	Insomnia	HP:0040282	ORPHA:69665
8647	ABCB11	HP:0001046	Intermittent jaundice	-	OMIM:601847
8647	ABCB11	HP:0100602	Preeclampsia	HP:0040283	ORPHA:69665
8647	ABCB11	HP:0025031	Abnormality of the digestive system	HP:0040282	ORPHA:69665
8647	ABCB11	HP:0001081	Cholelithiasis	-	OMIM:605479
8647	ABCB11	HP:0001082	Cholecystitis	HP:0040284	ORPHA:69665
8647	ABCB11	HP:0012689	Abnormal pineal melatonin secretion	HP:0040283	ORPHA:69665
8647	ABCB11	HP:0004322	Short stature	-	OMIM:601847
8647	ABCB11	HP:0000716	Depression	HP:0040283	ORPHA:69665
8647	ABCB11	HP:0003155	Elevated circulating alkaline phosphatase concentration	-	OMIM:601847
8647	ABCB11	HP:0003155	Elevated circulating alkaline phosphatase concentration	-	OMIM:605479
8647	ABCB11	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040283	ORPHA:69665
8647	ABCB11	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:69665
8647	ABCB11	HP:0000989	Pruritus	-	OMIM:601847
8647	ABCB11	HP:0000989	Pruritus	-	OMIM:605479
8647	ABCB11	HP:0000989	Pruritus	2/2	OMIM:602347
8647	ABCB11	HP:0000989	Pruritus	HP:0040281	ORPHA:69665
8647	ABCB11	HP:0000988	Skin rash	-	ORPHA:69665
8647	ABCB11	HP:0000952	Jaundice	2/2	OMIM:602347
8647	ABCB11	HP:0000952	Jaundice	HP:0040284	ORPHA:69665
8647	ABCB11	HP:0000952	Jaundice	-	OMIM:605479
8647	ABCB11	HP:0012202	Increased serum bile acid concentration	1/2	OMIM:602347
8647	ABCB11	HP:0012202	Increased serum bile acid concentration	HP:0040281	ORPHA:69665
8647	ABCB11	HP:0001541	Ascites	1/2	OMIM:602347
8647	ABCB11	HP:0001541	Ascites	HP:0040284	ORPHA:69665
8647	ABCB11	HP:0001508	Failure to thrive	-	OMIM:601847
8647	ABCB11	HP:0001518	Small for gestational age	HP:0040284	ORPHA:69665
8647	ABCB11	HP:0006580	Portal fibrosis	2/2	OMIM:602347
8647	ABCB11	HP:0002910	Elevated circulating hepatic transaminase concentration	2/2	OMIM:602347
8647	ABCB11	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:69665
8647	ABCB11	HP:0002908	Conjugated hyperbilirubinemia	-	OMIM:601847
8647	ABCB11	HP:0002908	Conjugated hyperbilirubinemia	-	OMIM:605479
8647	ABCB11	HP:0002904	Hyperbilirubinemia	HP:0040283	ORPHA:69665
8647	ABCB11	HP:0002960	Autoimmunity	-	ORPHA:69665
8647	ABCB11	HP:0001622	Premature birth	HP:0040284	ORPHA:69665
8647	ABCB11	HP:0001732	Abnormality of the pancreas	HP:0040284	ORPHA:69665
8647	ABCB11	HP:0011117	Abnormal circulating interleukin concentration	HP:0040283	ORPHA:69665
8647	ABCB11	HP:0012420	Meconium stained amniotic fluid	HP:0040283	ORPHA:69665
8647	ABCB11	HP:0001744	Splenomegaly	2/2	OMIM:602347
8647	ABCB11	HP:0001744	Splenomegaly	-	OMIM:601847
8651	SOCS1	HP:0033631	Spondylitis	1/10	OMIM:619375
8651	SOCS1	HP:0000099	Glomerulonephritis	2/10	OMIM:619375
8651	SOCS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619375
8651	SOCS1	HP:0002608	Celiac disease	1/10	OMIM:619375
8651	SOCS1	HP:0012189	Hodgkin lymphoma	1/10	OMIM:619375
8651	SOCS1	HP:0002716	Lymphadenopathy	2/10	OMIM:619375
8651	SOCS1	HP:0002725	Systemic lupus erythematosus	2/10	OMIM:619375
8651	SOCS1	HP:0003493	Antinuclear antibody positivity	5/9	OMIM:619375
8651	SOCS1	HP:0003596	Middle age onset	1/10	OMIM:619375
8651	SOCS1	HP:0002240	Hepatomegaly	1/10	OMIM:619375
8651	SOCS1	HP:0002205	Recurrent respiratory infections	1/10	OMIM:619375
8651	SOCS1	HP:0004844	Coombs-positive hemolytic anemia	3/9	OMIM:619375
8651	SOCS1	HP:0100646	Thyroiditis	1/10	OMIM:619375
8651	SOCS1	HP:0003621	Juvenile onset	3/10	OMIM:619375
8651	SOCS1	HP:0020151	Anti-dsDNA antibody positivity	3/9	OMIM:619375
8651	SOCS1	HP:0001973	Autoimmune thrombocytopenia	3/10	OMIM:619375
8651	SOCS1	HP:0011463	Childhood onset	4/10	OMIM:619375
8651	SOCS1	HP:0011462	Young adult onset	2/10	OMIM:619375
8651	SOCS1	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	5/9	OMIM:619375
8651	SOCS1	HP:0001744	Splenomegaly	2/10	OMIM:619375
8651	SOCS1	HP:0030384	Decreased proportion of marginal zone B cells	7/10	OMIM:619375
8651	SOCS1	HP:0030388	Decreased class-switched memory B cell proportion	7/10	OMIM:619375
8653	DDX3Y	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:1646
8653	DDX3Y	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:1646
8653	DDX3Y	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1646
8653	DDX3Y	HP:0000027	Azoospermia	-	OMIM:415000
8653	DDX3Y	HP:0001450	Y-linked inheritance	-	OMIM:415000
8653	DDX3Y	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:1646
8653	DDX3Y	HP:0011462	Young adult onset	-	OMIM:415000
8653	DDX3Y	HP:0000798	Oligozoospermia	HP:0040282	ORPHA:1646
8653	DDX3Y	HP:0003251	Male infertility	HP:0040281	ORPHA:1646
8653	DDX3Y	HP:0003251	Male infertility	-	OMIM:415000
8659	ALDH4A1	HP:0002490	Increased CSF lactate	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0001298	Encephalopathy	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0001289	Confusion	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:6000620	Elevated urinary pyrroline hydroxycarboxylic acid level	-	OMIM:239510
8659	ALDH4A1	HP:0001284	Areflexia	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0001250	Seizure	-	OMIM:239510
8659	ALDH4A1	HP:0001250	Seizure	HP:0040281	ORPHA:79101
8659	ALDH4A1	HP:0001249	Intellectual disability	-	OMIM:239510
8659	ALDH4A1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:79101
8659	ALDH4A1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:79101
8659	ALDH4A1	HP:6000694	Elevated circulating 1-pyrroline-5-carboxylic acid concentration	-	OMIM:239510
8659	ALDH4A1	HP:6000695	Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity	5/5	OMIM:239510
8659	ALDH4A1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:239510
8659	ALDH4A1	HP:0003348	Hyperalaninemia	HP:0040282	ORPHA:79101
8659	ALDH4A1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0003326	Myalgia	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0002014	Diarrhea	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0002015	Dysphagia	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0003394	Muscle spasm	HP:0040282	ORPHA:79101
8659	ALDH4A1	HP:0002154	Hyperglycinemia	HP:0040282	ORPHA:79101
8659	ALDH4A1	HP:0002133	Status epilepticus	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0002197	Generalized-onset seizure	HP:0040282	ORPHA:79101
8659	ALDH4A1	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:79101
8659	ALDH4A1	HP:0008358	Hyperprolinemia	HP:0040281	ORPHA:79101
8659	ALDH4A1	HP:0008358	Hyperprolinemia	-	OMIM:239510
8659	ALDH4A1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0008326	Reduced circulating vitamin B6 circulating	HP:0040282	ORPHA:79101
8659	ALDH4A1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:79101
8659	ALDH4A1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0002317	Unsteady gait	HP:0040282	ORPHA:79101
8659	ALDH4A1	HP:0010819	Atonic seizure	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0009088	Speech articulation difficulties	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0003080	Hydroxyprolinuria	HP:0040281	ORPHA:79101
8659	ALDH4A1	HP:0003080	Hydroxyprolinuria	-	OMIM:239510
8659	ALDH4A1	HP:0000738	Hallucinations	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0000739	Anxiety	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0000736	Short attention span	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:79101
8659	ALDH4A1	HP:0000716	Depression	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0000708	Atypical behavior	HP:0040281	ORPHA:79101
8659	ALDH4A1	HP:0003108	Hyperglycinuria	-	OMIM:239510
8659	ALDH4A1	HP:0003137	Prolinuria	HP:0040281	ORPHA:79101
8659	ALDH4A1	HP:0003137	Prolinuria	-	OMIM:239510
8659	ALDH4A1	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:79101
8659	ALDH4A1	HP:0002936	Distal sensory impairment	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:79101
8659	ALDH4A1	HP:0002921	Abnormal cerebrospinal fluid morphology	HP:0040281	ORPHA:79101
8659	ALDH4A1	HP:0011199	EEG with generalized sharp slow waves	HP:0040282	ORPHA:79101
8659	ALDH4A1	HP:0011152	Early onset absence seizures	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0012432	Chronic fatigue	HP:0040282	ORPHA:79101
8659	ALDH4A1	HP:0012402	Increased urine alpha-ketoglutarate concentration	HP:0040281	ORPHA:79101
8659	ALDH4A1	HP:0000511	Vertical supranuclear gaze palsy	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0000597	Ophthalmoparesis	HP:0040283	ORPHA:79101
8659	ALDH4A1	HP:0012534	Dysesthesia	HP:0040283	ORPHA:79101
8660	IRS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
8660	IRS2	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
8660	IRS2	HP:0003584	Late onset	-	OMIM:125853
8660	IRS2	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
8660	IRS2	HP:0000855	Insulin resistance	-	OMIM:125853
8665	EIF3F	HP:0001250	Seizure	3/20	OMIM:618295
8665	EIF3F	HP:0001252	Hypotonia	10/21	OMIM:618295
8665	EIF3F	HP:0001263	Global developmental delay	21/21	OMIM:618295
8665	EIF3F	HP:0025336	Delayed ability to sit	4/12	OMIM:618295
8665	EIF3F	HP:0001344	Absent speech	5/21	OMIM:618295
8665	EIF3F	HP:0000007	Autosomal recessive inheritance	-	OMIM:618295
8665	EIF3F	HP:0003593	Infantile onset	-	OMIM:618295
8665	EIF3F	HP:0003577	Congenital onset	-	OMIM:618295
8665	EIF3F	HP:0002360	Sleep abnormality	5/21	OMIM:618295
8665	EIF3F	HP:0002376	Developmental regression	3/21	OMIM:618295
8665	EIF3F	HP:0003623	Neonatal onset	-	OMIM:618295
8665	EIF3F	HP:0000639	Nystagmus	1/21	OMIM:618295
8665	EIF3F	HP:0004322	Short stature	8/21	OMIM:618295
8665	EIF3F	HP:0031936	Delayed ability to walk	14/20	OMIM:618295
8665	EIF3F	HP:0000750	Delayed speech and language development	21/21	OMIM:618295
8665	EIF3F	HP:0000709	Psychosis	1/21	OMIM:618295
8665	EIF3F	HP:0000252	Microcephaly	6/19	OMIM:618295
8665	EIF3F	HP:0002858	Meningioma	2/21	OMIM:618295
8665	EIF3F	HP:0000358	Posteriorly rotated ears	7/20	OMIM:618295
8665	EIF3F	HP:0000407	Sensorineural hearing impairment	12/21	OMIM:618295
8665	EIF3F	HP:0000486	Strabismus	3/21	OMIM:618295
8665	EIF3F	HP:0001763	Pes planus	3/20	OMIM:618295
8665	EIF3F	HP:0000589	Coloboma	1/21	OMIM:618295
8671	SLC4A4	HP:0001249	Intellectual disability	3/3	OMIM:604278
8671	SLC4A4	HP:0410288	Hyperamylasemia	2/2	OMIM:604278
8671	SLC4A4	HP:0002514	Cerebral calcification	1/1	OMIM:604278
8671	SLC4A4	HP:0000007	Autosomal recessive inheritance	-	OMIM:604278
8671	SLC4A4	HP:0002049	Proximal renal tubular acidosis	3/3	OMIM:604278
8671	SLC4A4	HP:0032066	Decreased serum bicarbonate concentration	1/1	OMIM:604278
8671	SLC4A4	HP:0004910	Bicarbonate-wasting renal tubular acidosis	2/2	OMIM:604278
8671	SLC4A4	HP:0005546	Increased red cell osmotic resistance	-	OMIM:604278
8671	SLC4A4	HP:4000010	Impaired renal tubular reabsorption of bicarbonate	1/1	OMIM:604278
8671	SLC4A4	HP:0001942	Metabolic acidosis	1/1	OMIM:604278
8671	SLC4A4	HP:0001995	Hyperchloremic acidosis	-	OMIM:604278
8671	SLC4A4	HP:0004322	Short stature	3/3	OMIM:604278
8671	SLC4A4	HP:0011463	Childhood onset	1/2	OMIM:604278
8671	SLC4A4	HP:0001510	Growth delay	2/2	OMIM:604278
8671	SLC4A4	HP:0002900	Hypokalemia	1/1	OMIM:604278
8671	SLC4A4	HP:0025708	Early young adult onset	1/2	OMIM:604278
8671	SLC4A4	HP:0000518	Cataract	3/3	OMIM:604278
8671	SLC4A4	HP:0000501	Glaucoma	3/3	OMIM:604278
8671	SLC4A4	HP:0000585	Band keratopathy	3/3	OMIM:604278
8675	STX16	HP:0001156	Brachydactyly	HP:0040283	OMIM:603233
8675	STX16	HP:0003745	Sporadic	-	OMIM:603233
8675	STX16	HP:0003761	Calcinosis	-	ORPHA:94089
8675	STX16	HP:0003739	Myoclonic spasms	HP:0040283	ORPHA:94089
8675	STX16	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:94089
8675	STX16	HP:0012049	Laryngeal dystonia	HP:0040283	ORPHA:94089
8675	STX16	HP:0003909	Cortical subperiosteal resorption of humeral metaphyses	HP:0040283	ORPHA:94089
8675	STX16	HP:0000006	Autosomal dominant inheritance	-	OMIM:603233
8675	STX16	HP:0006297	Enamel hypoplasia	HP:0040282	ORPHA:94089
8675	STX16	HP:0002094	Dyspnea	HP:0040283	ORPHA:94089
8675	STX16	HP:0003394	Muscle spasm	HP:0040283	ORPHA:94089
8675	STX16	HP:0003472	Hypocalcemic tetany	HP:0040283	ORPHA:94089
8675	STX16	HP:0003456	Low urinary cyclic AMP response to PTH administration	-	OMIM:603233
8675	STX16	HP:0003456	Low urinary cyclic AMP response to PTH administration	HP:0040281	ORPHA:94089
8675	STX16	HP:0002199	Hypocalcemic seizures	HP:0040284	ORPHA:94089
8675	STX16	HP:0008227	Pituitary resistance to thyroid hormone	HP:0040284	ORPHA:94089
8675	STX16	HP:0003401	Paresthesia	HP:0040283	ORPHA:94089
8675	STX16	HP:0100749	Chest pain	HP:0040283	ORPHA:94089
8675	STX16	HP:0100660	Dyskinesia	HP:0040283	ORPHA:94089
8675	STX16	HP:0010766	Ectopic calcification	-	ORPHA:94089
8675	STX16	HP:0000639	Nystagmus	HP:0040282	ORPHA:94089
8675	STX16	HP:0010049	Short metacarpal	HP:0040283	OMIM:603233
8675	STX16	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:94089
8675	STX16	HP:0004322	Short stature	HP:0040282	ORPHA:94089
8675	STX16	HP:0003034	Diaphyseal sclerosis	HP:0040283	ORPHA:94089
8675	STX16	HP:0000737	Irritability	HP:0040283	ORPHA:94089
8675	STX16	HP:0000739	Anxiety	HP:0040283	ORPHA:94089
8675	STX16	HP:0000716	Depression	HP:0040283	ORPHA:94089
8675	STX16	HP:0011458	Abdominal symptom	HP:0040283	ORPHA:94089
8675	STX16	HP:0003165	Elevated circulating parathyroid hormone level	HP:0040281	ORPHA:94089
8675	STX16	HP:0003165	Elevated circulating parathyroid hormone level	-	OMIM:603233
8675	STX16	HP:0000852	Pseudohypoparathyroidism	-	OMIM:603233
8675	STX16	HP:0000852	Pseudohypoparathyroidism	HP:0040280	ORPHA:94089
8675	STX16	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040284	ORPHA:94089
8675	STX16	HP:0005700	Increased bone density with cystic changes	HP:0040283	ORPHA:94089
8675	STX16	HP:0000293	Full cheeks	HP:0040282	ORPHA:94089
8675	STX16	HP:0030057	Autoimmune antibody positivity	-	ORPHA:94089
8675	STX16	HP:0001513	Obesity	HP:0040283	OMIM:603233
8675	STX16	HP:0002905	Hyperphosphatemia	HP:0040281	ORPHA:94089
8675	STX16	HP:0002905	Hyperphosphatemia	-	OMIM:603233
8675	STX16	HP:0002901	Hypocalcemia	HP:0040281	ORPHA:94089
8675	STX16	HP:0002901	Hypocalcemia	-	OMIM:603233
8675	STX16	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:94089
8675	STX16	HP:0000311	Round face	HP:0040282	ORPHA:94089
8675	STX16	HP:0001657	Prolonged QT interval	HP:0040283	ORPHA:94089
8675	STX16	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:94089
8675	STX16	HP:0000470	Short neck	HP:0040282	ORPHA:94089
8675	STX16	HP:0000518	Cataract	HP:0040282	ORPHA:94089
8675	STX16	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:94089
8676	STX11	HP:0001250	Seizure	1/14	OMIM:603552
8676	STX11	HP:0001250	Seizure	HP:0040283	ORPHA:540
8676	STX11	HP:0002583	Colitis	HP:0040283	ORPHA:540
8676	STX11	HP:0001252	Hypotonia	-	OMIM:603552
8676	STX11	HP:0001263	Global developmental delay	1/14	OMIM:603552
8676	STX11	HP:0001259	Coma	HP:0040283	ORPHA:540
8676	STX11	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:540
8676	STX11	HP:0000007	Autosomal recessive inheritance	-	OMIM:603552
8676	STX11	HP:0002611	Cholestatic liver disease	HP:0040282	ORPHA:540
8676	STX11	HP:0012177	Abnormal natural killer cell physiology	HP:0040282	ORPHA:540
8676	STX11	HP:0012156	Hemophagocytosis	HP:0040281	ORPHA:540
8676	STX11	HP:0012156	Hemophagocytosis	18/21	OMIM:603552
8676	STX11	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	HP:0040281	ORPHA:540
8676	STX11	HP:0001410	Decreased liver function	HP:0040282	ORPHA:540
8676	STX11	HP:0002716	Lymphadenopathy	8/13	OMIM:603552
8676	STX11	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:540
8676	STX11	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:540
8676	STX11	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:540
8676	STX11	HP:0002155	Hypertriglyceridemia	31/31	OMIM:603552
8676	STX11	HP:0011900	Hypofibrinogenemia	HP:0040282	ORPHA:540
8676	STX11	HP:0011900	Hypofibrinogenemia	29/31	OMIM:603552
8676	STX11	HP:0003593	Infantile onset	11/28	OMIM:603552
8676	STX11	HP:0002240	Hepatomegaly	21/21	OMIM:603552
8676	STX11	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:540
8676	STX11	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:540
8676	STX11	HP:0001019	Erythroderma	HP:0040282	ORPHA:540
8676	STX11	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:540
8676	STX11	HP:0001945	Fever	24/24	OMIM:603552
8676	STX11	HP:0001945	Fever	HP:0040281	ORPHA:540
8676	STX11	HP:0001954	Recurrent fever	14/14	OMIM:603552
8676	STX11	HP:0001903	Anemia	7/7	OMIM:603552
8676	STX11	HP:0001903	Anemia	HP:0040281	ORPHA:540
8676	STX11	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:540
8676	STX11	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040283	ORPHA:540
8676	STX11	HP:0003073	Hypoalbuminemia	HP:0040281	ORPHA:540
8676	STX11	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:540
8676	STX11	HP:0011463	Childhood onset	5/14	OMIM:603552
8676	STX11	HP:0030783	Increased circulating interleukin 6 concentration	HP:0040282	ORPHA:540
8676	STX11	HP:0003281	Increased circulating ferritin concentration	HP:0040281	ORPHA:540
8676	STX11	HP:0003281	Increased circulating ferritin concentration	13/14	OMIM:603552
8676	STX11	HP:0003256	Abnormality of the coagulation cascade	HP:0040282	ORPHA:540
8676	STX11	HP:0000979	Purpura	HP:0040282	ORPHA:540
8676	STX11	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:540
8676	STX11	HP:0000988	Skin rash	HP:0040282	ORPHA:540
8676	STX11	HP:0000988	Skin rash	5/14	OMIM:603552
8676	STX11	HP:0000952	Jaundice	8/14	OMIM:603552
8676	STX11	HP:0000952	Jaundice	HP:0040283	ORPHA:540
8676	STX11	HP:0000969	Edema	5/14	OMIM:603552
8676	STX11	HP:0000967	Petechiae	HP:0040282	ORPHA:540
8676	STX11	HP:0040186	Maculopapular exanthema	HP:0040283	ORPHA:540
8676	STX11	HP:0012229	CSF pleocytosis	HP:0040282	ORPHA:540
8676	STX11	HP:0012211	Abnormal renal physiology	HP:0040282	ORPHA:540
8676	STX11	HP:0031364	Ecchymosis	HP:0040282	ORPHA:540
8676	STX11	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:540
8676	STX11	HP:0002958	Immune dysregulation	HP:0040281	ORPHA:540
8676	STX11	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:540
8676	STX11	HP:0011118	Abnormality of tumor necrosis factor secretion	HP:0040281	ORPHA:540
8676	STX11	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:540
8676	STX11	HP:0011112	Abnormal circulating cytokine concentration	HP:0040281	ORPHA:540
8676	STX11	HP:0001744	Splenomegaly	21/21	OMIM:603552
8676	STX11	HP:0001744	Splenomegaly	HP:0040282	ORPHA:540
8676	STX11	HP:0000509	Conjunctivitis	1/7	OMIM:603552
8676	STX11	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040281	ORPHA:540
8676	STX11	HP:0001873	Thrombocytopenia	6/7	OMIM:603552
8676	STX11	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:540
8676	STX11	HP:0001875	Decreased total neutrophil count	5/7	OMIM:603552
8676	STX11	HP:0001875	Decreased total neutrophil count	HP:0040282	ORPHA:540
8694	DGAT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615863
8694	DGAT1	HP:0002014	Diarrhea	2/2	OMIM:615863
8694	DGAT1	HP:0002013	Vomiting	-	OMIM:615863
8694	DGAT1	HP:0011848	Abdominal colic	2/2	OMIM:615863
8694	DGAT1	HP:0002243	Protein-losing enteropathy	2/2	OMIM:615863
8694	DGAT1	HP:0003623	Neonatal onset	2/2	OMIM:615863
8694	DGAT1	HP:0003077	Hyperlipidemia	2/2	OMIM:615863
8694	DGAT1	HP:0003073	Hypoalbuminemia	-	OMIM:615863
8694	DGAT1	HP:0011473	Villous atrophy	2/2	OMIM:615863
8694	DGAT1	HP:0003124	Hypercholesterolemia	2/2	OMIM:615863
8694	DGAT1	HP:0001508	Failure to thrive	-	OMIM:615863
8701	DNAH11	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
8701	DNAH11	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
8701	DNAH11	HP:0001217	Clubbing	HP:0040283	ORPHA:244
8701	DNAH11	HP:0000007	Autosomal recessive inheritance	-	OMIM:611884
8701	DNAH11	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
8701	DNAH11	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
8701	DNAH11	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
8701	DNAH11	HP:0031245	Productive cough	HP:0040282	ORPHA:244
8701	DNAH11	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
8701	DNAH11	HP:0002091	Restrictive ventilatory defect	2/4	OMIM:611884
8701	DNAH11	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
8701	DNAH11	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
8701	DNAH11	HP:0002110	Bronchiectasis	3/3	OMIM:611884
8701	DNAH11	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
8701	DNAH11	HP:0008222	Female infertility	HP:0040283	ORPHA:244
8701	DNAH11	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
8701	DNAH11	HP:0002257	Chronic rhinitis	2/2	OMIM:611884
8701	DNAH11	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
8701	DNAH11	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
8701	DNAH11	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
8701	DNAH11	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
8701	DNAH11	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
8701	DNAH11	HP:0012735	Cough	2/2	OMIM:611884
8701	DNAH11	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
8701	DNAH11	HP:0011463	Childhood onset	2/2	OMIM:611884
8701	DNAH11	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
8701	DNAH11	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
8701	DNAH11	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
8701	DNAH11	HP:0030877	Reduced FEV1/FVC ratio	2/4	OMIM:611884
8701	DNAH11	HP:0030828	Wheezing	HP:0040283	ORPHA:244
8701	DNAH11	HP:0003251	Male infertility	HP:0040282	ORPHA:244
8701	DNAH11	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
8701	DNAH11	HP:0033036	Decreased nasal nitric oxide	2/2	OMIM:611884
8701	DNAH11	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
8701	DNAH11	HP:0012258	Abnormal axonemal organization of respiratory motile cilia	0/1	OMIM:611884
8701	DNAH11	HP:0012265	Ciliary dyskinesia	3/3	OMIM:611884
8701	DNAH11	HP:0012262	Abnormal ciliary motility	4/4	OMIM:611884
8701	DNAH11	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
8701	DNAH11	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
8701	DNAH11	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
8701	DNAH11	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
8701	DNAH11	HP:0006532	Recurrent pneumonia	5/6	OMIM:611884
8701	DNAH11	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
8701	DNAH11	HP:0001696	Situs inversus totalis	2/7	OMIM:611884
8701	DNAH11	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
8701	DNAH11	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
8701	DNAH11	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
8701	DNAH11	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
8701	DNAH11	HP:0001651	Dextrocardia	1/1	OMIM:611884
8701	DNAH11	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
8701	DNAH11	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
8701	DNAH11	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
8701	DNAH11	HP:0000403	Recurrent otitis media	2/2	OMIM:611884
8701	DNAH11	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
8701	DNAH11	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
8701	DNAH11	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
8701	DNAH11	HP:0001746	Asplenia	HP:0040284	ORPHA:244
8701	DNAH11	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
8701	DNAH11	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
8701	DNAH11	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
8701	DNAH11	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
8701	DNAH11	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
8710	SERPINB7	HP:0025114	Hypergranulosis	-	OMIM:615598
8710	SERPINB7	HP:0007410	Palmoplantar hyperhidrosis	11/13	OMIM:615598
8710	SERPINB7	HP:0000007	Autosomal recessive inheritance	-	OMIM:615598
8710	SERPINB7	HP:0003593	Infantile onset	2/13	OMIM:615598
8710	SERPINB7	HP:0003577	Congenital onset	7/13	OMIM:615598
8710	SERPINB7	HP:0032007	Maceration	-	OMIM:615598
8710	SERPINB7	HP:0025092	Epidermal acanthosis	-	OMIM:615598
8710	SERPINB7	HP:0025080	Orthokeratotic hyperkeratosis	-	OMIM:615598
8710	SERPINB7	HP:0003623	Neonatal onset	1/13	OMIM:615598
8710	SERPINB7	HP:0003621	Juvenile onset	2/13	OMIM:615598
8710	SERPINB7	HP:0011463	Childhood onset	1/13	OMIM:615598
8710	SERPINB7	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:140966
8710	SERPINB7	HP:0000972	Palmoplantar hyperkeratosis	13/13	OMIM:615598
8710	SERPINB7	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:140966
8720	MBTPS1	HP:0001156	Brachydactyly	1/1	OMIM:618392
8720	MBTPS1	HP:0100864	Short femoral neck	1/1	OMIM:618392
8720	MBTPS1	HP:0001216	Delayed ossification of carpal bones	1/1	OMIM:618392
8720	MBTPS1	HP:0002515	Waddling gait	1/1	OMIM:618392
8720	MBTPS1	HP:0000023	Inguinal hernia	1/1	OMIM:618392
8720	MBTPS1	HP:0002655	Spondyloepiphyseal dysplasia	1/1	OMIM:618392
8720	MBTPS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618392
8720	MBTPS1	HP:6000819	Elevated circulating beta-glucuronidase activity	1/1	OMIM:618392
8720	MBTPS1	HP:0002194	Delayed gross motor development	1/1	OMIM:618392
8720	MBTPS1	HP:0003593	Infantile onset	1/1	OMIM:618392
8720	MBTPS1	HP:0004325	Decreased body weight	1/1	OMIM:618392
8720	MBTPS1	HP:0004322	Short stature	1/1	OMIM:618392
8720	MBTPS1	HP:0004349	Reduced bone mineral density	1/1	OMIM:618392
8720	MBTPS1	HP:0000768	Pectus carinatum	1/1	OMIM:618392
8720	MBTPS1	HP:0002808	Kyphosis	1/1	OMIM:618392
8720	MBTPS1	HP:0001518	Small for gestational age	1/1	OMIM:618392
8720	MBTPS1	HP:0000358	Posteriorly rotated ears	1/1	OMIM:618392
8720	MBTPS1	HP:0000400	Macrotia	1/1	OMIM:618392
8720	MBTPS1	HP:0000518	Cataract	1/1	OMIM:618392
8720	MBTPS1	HP:0011220	Prominent forehead	1/1	OMIM:618392
8722	CTSF	HP:0002476	Primitive reflex	-	OMIM:615362
8722	CTSF	HP:0001272	Cerebellar atrophy	1/4	OMIM:615362
8722	CTSF	HP:0001268	Mental deterioration	4/4	OMIM:615362
8722	CTSF	HP:0001289	Confusion	1/4	OMIM:615362
8722	CTSF	HP:0001250	Seizure	-	OMIM:615362
8722	CTSF	HP:0001251	Ataxia	3/4	OMIM:615362
8722	CTSF	HP:0001260	Dysarthria	3/4	OMIM:615362
8722	CTSF	HP:0007359	Focal-onset seizure	1/4	OMIM:615362
8722	CTSF	HP:0002529	Neuronal loss in central nervous system	1/4	OMIM:615362
8722	CTSF	HP:0002506	Diffuse cerebral atrophy	4/4	OMIM:615362
8722	CTSF	HP:0001347	Hyperreflexia	1/4	OMIM:615362
8722	CTSF	HP:0000007	Autosomal recessive inheritance	-	OMIM:615362
8722	CTSF	HP:0001337	Tremor	3/4	OMIM:615362
8722	CTSF	HP:0001336	Myoclonus	-	OMIM:615362
8722	CTSF	HP:0002069	Bilateral tonic-clonic seizure	3/4	OMIM:615362
8722	CTSF	HP:0002066	Gait ataxia	1/4	OMIM:615362
8722	CTSF	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:615362
8722	CTSF	HP:0003487	Babinski sign	-	OMIM:615362
8722	CTSF	HP:0002120	Cerebral cortical atrophy	2/4	OMIM:615362
8722	CTSF	HP:0002119	Ventriculomegaly	1/4	OMIM:615362
8722	CTSF	HP:0003676	Progressive	-	OMIM:615362
8722	CTSF	HP:0000716	Depression	1/4	OMIM:615362
8722	CTSF	HP:0000712	Emotional lability	1/4	OMIM:615362
8722	CTSF	HP:0000726	Dementia	4/4	OMIM:615362
8722	CTSF	HP:0011462	Young adult onset	4/4	OMIM:615362
8726	EED	HP:0001176	Large hands	1/1	OMIM:617561
8726	EED	HP:0001290	Generalized hypotonia	-	OMIM:617561
8726	EED	HP:0100807	Long fingers	-	OMIM:617561
8726	EED	HP:0001288	Gait disturbance	-	OMIM:617561
8726	EED	HP:0001250	Seizure	1/1	OMIM:617561
8726	EED	HP:0001249	Intellectual disability	1/1	OMIM:617561
8726	EED	HP:0001263	Global developmental delay	1/1	OMIM:617561
8726	EED	HP:0000098	Tall stature	-	OMIM:617561
8726	EED	HP:0001371	Flexion contracture	-	OMIM:617561
8726	EED	HP:0001382	Joint hypermobility	-	OMIM:617561
8726	EED	HP:0000028	Cryptorchidism	1/1	OMIM:617561
8726	EED	HP:0002673	Coxa valga	-	OMIM:617561
8726	EED	HP:0000006	Autosomal dominant inheritance	-	OMIM:617561
8726	EED	HP:0002650	Scoliosis	1/1	OMIM:617561
8726	EED	HP:0011823	Chin with horizontal crease	1/1	OMIM:617561
8726	EED	HP:0003577	Congenital onset	-	OMIM:617561
8726	EED	HP:0002370	Poor coordination	-	OMIM:617561
8726	EED	HP:0011304	Broad thumb	-	OMIM:617561
8726	EED	HP:0005616	Accelerated skeletal maturation	1/1	OMIM:617561
8726	EED	HP:0003015	Flared metaphysis	1/1	OMIM:617561
8726	EED	HP:0400004	Long ear	-	OMIM:617561
8726	EED	HP:0000750	Delayed speech and language development	1/1	OMIM:617561
8726	EED	HP:0000995	Melanocytic nevus	1/1	OMIM:617561
8726	EED	HP:0000938	Osteopenia	-	OMIM:617561
8726	EED	HP:0000286	Epicanthus	-	OMIM:617561
8726	EED	HP:0000278	Retrognathia	1/1	OMIM:617561
8726	EED	HP:0000256	Macrocephaly	1/1	OMIM:617561
8726	EED	HP:0001548	Overgrowth	1/1	OMIM:617561
8726	EED	HP:0001537	Umbilical hernia	1/1	OMIM:617561
8726	EED	HP:0002866	Hypoplastic iliac wing	-	OMIM:617561
8726	EED	HP:0012385	Camptodactyly	1/1	OMIM:617561
8726	EED	HP:0000369	Low-set ears	-	OMIM:617561
8726	EED	HP:0000337	Broad forehead	-	OMIM:617561
8726	EED	HP:0000316	Hypertelorism	1/1	OMIM:617561
8726	EED	HP:0001643	Patent ductus arteriosus	HP:0040284	OMIM:617561
8726	EED	HP:0000311	Round face	-	OMIM:617561
8726	EED	HP:0006610	Wide intermamillary distance	1/1	OMIM:617561
8726	EED	HP:0000400	Macrotia	1/1	OMIM:617561
8726	EED	HP:0005280	Depressed nasal bridge	-	OMIM:617561
8726	EED	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:617561
8726	EED	HP:0001792	Small nail	-	OMIM:617561
8726	EED	HP:0000431	Wide nasal bridge	-	OMIM:617561
8726	EED	HP:0000518	Cataract	1/1	OMIM:617561
8726	EED	HP:0000508	Ptosis	-	OMIM:617561
8726	EED	HP:0001833	Long foot	-	OMIM:617561
8726	EED	HP:0001816	Thin nail	-	OMIM:617561
8726	EED	HP:0000545	Myopia	1/1	OMIM:617561
8729	GBF1	HP:0002460	Distal muscle weakness	-	OMIM:606483
8729	GBF1	HP:0001270	Motor delay	1/7	OMIM:606483
8729	GBF1	HP:0001288	Gait disturbance	4/7	OMIM:606483
8729	GBF1	HP:0001284	Areflexia	5/6	OMIM:606483
8729	GBF1	HP:0001265	Hyporeflexia	1/6	OMIM:606483
8729	GBF1	HP:0001260	Dysarthria	1/7	OMIM:606483
8729	GBF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:606483
8729	GBF1	HP:0003394	Muscle spasm	-	OMIM:606483
8729	GBF1	HP:0003393	Thenar muscle atrophy	1/7	OMIM:606483
8729	GBF1	HP:0003378	Axonal degeneration/regeneration	-	OMIM:606483
8729	GBF1	HP:0003376	Steppage gait	-	OMIM:606483
8729	GBF1	HP:0003383	Onion bulb formation	-	OMIM:606483
8729	GBF1	HP:0003481	Segmental peripheral demyelination/remyelination	-	OMIM:606483
8729	GBF1	HP:0003445	EMG: neuropathic changes	6/7	OMIM:606483
8729	GBF1	HP:0003596	Middle age onset	4/7	OMIM:606483
8729	GBF1	HP:0003693	Distal amyotrophy	20/20	OMIM:606483
8729	GBF1	HP:0007107	Segmental peripheral demyelination	-	OMIM:606483
8729	GBF1	HP:0009027	Foot dorsiflexor weakness	5/14	OMIM:606483
8729	GBF1	HP:0011463	Childhood onset	1/7	OMIM:606483
8729	GBF1	HP:0011462	Young adult onset	2/7	OMIM:606483
8729	GBF1	HP:0002936	Distal sensory impairment	3/6	OMIM:606483
8729	GBF1	HP:0001765	Hammertoe	1/7	OMIM:606483
8729	GBF1	HP:0001761	Pes cavus	3/7	OMIM:606483
8733	GPAA1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0001272	Cerebellar atrophy	9/9	OMIM:617810
8733	GPAA1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0001250	Seizure	HP:0040281	ORPHA:529665
8733	GPAA1	HP:0001252	Hypotonia	10/10	OMIM:617810
8733	GPAA1	HP:0001249	Intellectual disability	-	OMIM:617810
8733	GPAA1	HP:0001260	Dysarthria	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0001260	Dysarthria	5/5	OMIM:617810
8733	GPAA1	HP:0001263	Global developmental delay	10/10	OMIM:617810
8733	GPAA1	HP:0001257	Spasticity	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0001257	Spasticity	4/9	OMIM:617810
8733	GPAA1	HP:0002540	Inability to walk	-	OMIM:617810
8733	GPAA1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0001347	Hyperreflexia	6/10	OMIM:617810
8733	GPAA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617810
8733	GPAA1	HP:0001337	Tremor	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0001337	Tremor	5/10	OMIM:617810
8733	GPAA1	HP:0001310	Dysmetria	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0001310	Dysmetria	6/6	OMIM:617810
8733	GPAA1	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0001321	Cerebellar hypoplasia	1/10	OMIM:617810
8733	GPAA1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0002069	Bilateral tonic-clonic seizure	7/10	OMIM:617810
8733	GPAA1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0002066	Gait ataxia	7/7	OMIM:617810
8733	GPAA1	HP:0002121	Generalized non-motor (absence) seizure	1/10	OMIM:617810
8733	GPAA1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:529665
8733	GPAA1	HP:0002186	Apraxia	2/10	OMIM:617810
8733	GPAA1	HP:0003593	Infantile onset	-	OMIM:617810
8733	GPAA1	HP:0003698	Difficulty standing	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:529665
8733	GPAA1	HP:0002353	EEG abnormality	6/7	OMIM:617810
8733	GPAA1	HP:0010819	Atonic seizure	2/10	OMIM:617810
8733	GPAA1	HP:0000639	Nystagmus	8/10	OMIM:617810
8733	GPAA1	HP:0000639	Nystagmus	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0000648	Optic atrophy	HP:0040284	ORPHA:529665
8733	GPAA1	HP:0000648	Optic atrophy	1/10	OMIM:617810
8733	GPAA1	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0000750	Delayed speech and language development	7/7	OMIM:617810
8733	GPAA1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0003155	Elevated circulating alkaline phosphatase concentration	-	ORPHA:529665
8733	GPAA1	HP:0000939	Osteoporosis	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0000938	Osteopenia	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0000938	Osteopenia	8/8	OMIM:617810
8733	GPAA1	HP:0000341	Narrow forehead	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0000341	Narrow forehead	4/10	OMIM:617810
8733	GPAA1	HP:0032794	Myoclonic seizure	4/10	OMIM:617810
8733	GPAA1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0000463	Anteverted nares	4/10	OMIM:617810
8733	GPAA1	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0000505	Visual impairment	HP:0040284	ORPHA:529665
8733	GPAA1	HP:0000505	Visual impairment	2/10	OMIM:617810
8733	GPAA1	HP:0011220	Prominent forehead	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0011220	Prominent forehead	4/10	OMIM:617810
8733	GPAA1	HP:0000545	Myopia	HP:0040282	ORPHA:529665
8733	GPAA1	HP:0000545	Myopia	4/10	OMIM:617810
8737	RIPK1	HP:0410297	Partial absence of specific antibody response to tetanus vaccine	1/4	OMIM:618108
8737	RIPK1	HP:0010976	Decreased total B cell count	1/4	OMIM:618108
8737	RIPK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618108
8737	RIPK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618852
8737	RIPK1	HP:0000155	Oral ulcer	8/14	OMIM:618852
8737	RIPK1	HP:0002716	Lymphadenopathy	11/12	OMIM:618852
8737	RIPK1	HP:0002037	Inflammation of the large intestine	4/4	OMIM:618108
8737	RIPK1	HP:0002027	Abdominal pain	5/12	OMIM:618852
8737	RIPK1	HP:0002014	Diarrhea	4/4	OMIM:618108
8737	RIPK1	HP:0002110	Bronchiectasis	2/4	OMIM:618108
8737	RIPK1	HP:0003493	Antinuclear antibody positivity	1/7	OMIM:618852
8737	RIPK1	HP:0003593	Infantile onset	1/4	OMIM:618108
8737	RIPK1	HP:0002240	Hepatomegaly	3/12	OMIM:618852
8737	RIPK1	HP:0002205	Recurrent respiratory infections	3/4	OMIM:618108
8737	RIPK1	HP:0009789	Perianal abscess	3/4	OMIM:618108
8737	RIPK1	HP:0003623	Neonatal onset	3/4	OMIM:618108
8737	RIPK1	HP:0001954	Recurrent fever	11/12	OMIM:618852
8737	RIPK1	HP:0001935	Microcytic anemia	5/5	OMIM:618852
8737	RIPK1	HP:0004313	Decreased circulating immunoglobulin concentration	2/4	OMIM:618108
8737	RIPK1	HP:0040218	Reduced total natural killer cell count	3/4	OMIM:618108
8737	RIPK1	HP:0000988	Skin rash	1/4	OMIM:618108
8737	RIPK1	HP:0001508	Failure to thrive	2/4	OMIM:618108
8737	RIPK1	HP:0005263	Gastritis	3/4	OMIM:618108
8737	RIPK1	HP:0006528	Chronic lung disease	1/4	OMIM:618108
8737	RIPK1	HP:0002923	Rheumatoid factor positive	1/7	OMIM:618852
8737	RIPK1	HP:0011110	Recurrent tonsillitis	3/7	OMIM:618852
8737	RIPK1	HP:0001744	Splenomegaly	7/12	OMIM:618852
8737	RIPK1	HP:0005403	Decreased total T cell count	3/4	OMIM:618108
8738	CRADD	HP:0001250	Seizure	HP:0040283	OMIM:614499
8738	CRADD	HP:0001249	Intellectual disability	13/13	OMIM:614499
8738	CRADD	HP:0001355	Megalencephaly	-	OMIM:614499
8738	CRADD	HP:0001339	Lissencephaly	-	OMIM:614499
8738	CRADD	HP:0000007	Autosomal recessive inheritance	-	OMIM:614499
8738	CRADD	HP:0001302	Pachygyria	-	OMIM:614499
8738	CRADD	HP:0002069	Bilateral tonic-clonic seizure	1/13	OMIM:614499
8738	CRADD	HP:0000750	Delayed speech and language development	-	OMIM:614499
8738	CRADD	HP:0040194	Increased head circumference	11/13	OMIM:614499
8754	ADAM9	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
8754	ADAM9	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
8754	ADAM9	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
8754	ADAM9	HP:0000007	Autosomal recessive inheritance	-	OMIM:612775
8754	ADAM9	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
8754	ADAM9	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
8754	ADAM9	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
8754	ADAM9	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
8754	ADAM9	HP:0003621	Juvenile onset	8/19	OMIM:180100
8754	ADAM9	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
8754	ADAM9	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
8754	ADAM9	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
8754	ADAM9	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
8754	ADAM9	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
8754	ADAM9	HP:0000662	Nyctalopia	26/28	OMIM:180100
8754	ADAM9	HP:0011463	Childhood onset	3/19	OMIM:180100
8754	ADAM9	HP:0011462	Young adult onset	8/19	OMIM:180100
8754	ADAM9	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
8754	ADAM9	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
8754	ADAM9	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
8754	ADAM9	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
8754	ADAM9	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
8754	ADAM9	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
8754	ADAM9	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
8754	ADAM9	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
8754	ADAM9	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
8754	ADAM9	HP:0000505	Visual impairment	-	OMIM:612775
8754	ADAM9	HP:0000575	Scotoma	5/18	OMIM:180100
8754	ADAM9	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
8754	ADAM9	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:612775
8754	ADAM9	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
8754	ADAM9	HP:0000543	Optic disc pallor	1/1	OMIM:180100
8754	ADAM9	HP:0000545	Myopia	-	OMIM:180100
8763	CD164	HP:0000006	Autosomal dominant inheritance	-	OMIM:616969
8763	CD164	HP:0003577	Congenital onset	-	OMIM:616969
8763	CD164	HP:0011463	Childhood onset	-	OMIM:616969
8763	CD164	HP:0011462	Young adult onset	-	OMIM:616969
8763	CD164	HP:0000407	Sensorineural hearing impairment	11/11	OMIM:616969
8763	CD164	HP:0001751	Abnormal vestibular function	0/11	OMIM:616969
8772	FADD	HP:0001298	Encephalopathy	4/4	OMIM:613759
8772	FADD	HP:0001298	Encephalopathy	HP:0040280	ORPHA:306550
8772	FADD	HP:0001250	Seizure	4/4	OMIM:613759
8772	FADD	HP:0001250	Seizure	HP:0040280	ORPHA:306550
8772	FADD	HP:0003819	Death in childhood	2/4	OMIM:613759
8772	FADD	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:306550
8772	FADD	HP:0000007	Autosomal recessive inheritance	-	OMIM:613759
8772	FADD	HP:0032550	Howell-Jolly bodies	2/2	OMIM:613759
8772	FADD	HP:0001410	Decreased liver function	HP:0040280	ORPHA:306550
8772	FADD	HP:0002719	Recurrent infections	-	OMIM:613759
8772	FADD	HP:0033196	Portal inflammation	1/4	OMIM:613759
8772	FADD	HP:0033199	Increased circulating interleukin 10 concentration	1/1	OMIM:613759
8772	FADD	HP:0002059	Cerebral atrophy	3/3	OMIM:613759
8772	FADD	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:306550
8772	FADD	HP:0004935	Pulmonary artery atresia	1/4	OMIM:613759
8772	FADD	HP:0004935	Pulmonary artery atresia	HP:0040283	ORPHA:306550
8772	FADD	HP:0031964	Elevated circulating alanine aminotransferase concentration	2/2	OMIM:613759
8772	FADD	HP:0012852	Hepatic bridging fibrosis	1/4	OMIM:613759
8772	FADD	HP:0011669	Left superior vena cava draining directly to the left atrium	1/4	OMIM:613759
8772	FADD	HP:0030057	Autoimmune antibody positivity	HP:0040283	ORPHA:306550
8772	FADD	HP:0001629	Ventricular septal defect	1/4	OMIM:613759
8772	FADD	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:306550
8777	MPDZ	HP:0001137	Alternating esotropia	1/4	OMIM:615219
8777	MPDZ	HP:0001104	Macular hypoplasia	-	OMIM:615219
8777	MPDZ	HP:0009879	Simplified gyral pattern	-	OMIM:615219
8777	MPDZ	HP:0001274	Agenesis of corpus callosum	1/4	OMIM:615219
8777	MPDZ	HP:0001270	Motor delay	-	OMIM:615219
8777	MPDZ	HP:0001250	Seizure	2/4	OMIM:615219
8777	MPDZ	HP:0001252	Hypotonia	1/4	OMIM:615219
8777	MPDZ	HP:0001249	Intellectual disability	-	OMIM:615219
8777	MPDZ	HP:0001339	Lissencephaly	4/4	OMIM:615219
8777	MPDZ	HP:0000007	Autosomal recessive inheritance	-	OMIM:615219
8777	MPDZ	HP:0001334	Communicating hydrocephalus	-	OMIM:615219
8777	MPDZ	HP:0002007	Frontal bossing	-	OMIM:615219
8777	MPDZ	HP:0002119	Ventriculomegaly	4/4	OMIM:615219
8777	MPDZ	HP:0003577	Congenital onset	2/4	OMIM:615219
8777	MPDZ	HP:0002282	Gray matter heterotopia	-	OMIM:615219
8777	MPDZ	HP:0000648	Optic atrophy	HP:0040284	OMIM:615219
8777	MPDZ	HP:0000612	Iris coloboma	-	OMIM:615219
8777	MPDZ	HP:0001999	Abnormal facial shape	-	OMIM:615219
8777	MPDZ	HP:0034197	Third trimester onset	2/4	OMIM:615219
8777	MPDZ	HP:0030718	Right atrial enlargement	1/4	OMIM:615219
8777	MPDZ	HP:0000256	Macrocephaly	2/4	OMIM:615219
8777	MPDZ	HP:0000238	Hydrocephalus	4/4	OMIM:615219
8777	MPDZ	HP:0001583	Rotary nystagmus	1/4	OMIM:615219
8777	MPDZ	HP:0000252	Microcephaly	1/4	OMIM:615219
8777	MPDZ	HP:0030048	Colpocephaly	-	OMIM:615219
8777	MPDZ	HP:0000358	Posteriorly rotated ears	-	OMIM:615219
8777	MPDZ	HP:0001631	Atrial septal defect	1/4	OMIM:615219
8777	MPDZ	HP:0000407	Sensorineural hearing impairment	HP:0040284	OMIM:615219
8777	MPDZ	HP:0000486	Strabismus	-	OMIM:615219
8777	MPDZ	HP:0000494	Downslanted palpebral fissures	-	OMIM:615219
8777	MPDZ	HP:0000414	Bulbous nose	-	OMIM:615219
8777	MPDZ	HP:0000505	Visual impairment	1/4	OMIM:615219
8777	MPDZ	HP:0000567	Chorioretinal coloboma	2/4	OMIM:615219
8787	RGS9	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
8787	RGS9	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
8787	RGS9	HP:0000007	Autosomal recessive inheritance	-	OMIM:608415
8787	RGS9	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
8787	RGS9	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
8787	RGS9	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
8787	RGS9	HP:0007663	Reduced visual acuity	5/5	OMIM:608415
8787	RGS9	HP:0003621	Juvenile onset	8/19	OMIM:180100
8787	RGS9	HP:0030512	Difficulty adjusting to changes in luminance	5/5	OMIM:608415
8787	RGS9	HP:0030511	Bradyopsia	5/5	OMIM:608415
8787	RGS9	HP:0000613	Photophobia	5/5	OMIM:608415
8787	RGS9	HP:0000613	Photophobia	HP:0040281	ORPHA:75374
8787	RGS9	HP:0000662	Nyctalopia	26/28	OMIM:180100
8787	RGS9	HP:0011463	Childhood onset	3/19	OMIM:180100
8787	RGS9	HP:0011463	Childhood onset	5/5	OMIM:608415
8787	RGS9	HP:0011462	Young adult onset	8/19	OMIM:180100
8787	RGS9	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
8787	RGS9	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
8787	RGS9	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
8787	RGS9	HP:0000505	Visual impairment	HP:0040281	ORPHA:75374
8787	RGS9	HP:0000575	Scotoma	5/18	OMIM:180100
8787	RGS9	HP:0000543	Optic disc pallor	1/1	OMIM:180100
8787	RGS9	HP:0000545	Myopia	-	OMIM:180100
8788	DLK1	HP:0001181	Adducted thumb	HP:0040283	ORPHA:96334
8788	DLK1	HP:0008551	Microtia	HP:0040282	ORPHA:96334
8788	DLK1	HP:0001270	Motor delay	HP:0040281	ORPHA:96184
8788	DLK1	HP:0001270	Motor delay	HP:0040281	ORPHA:254531
8788	DLK1	HP:0001270	Motor delay	HP:0040281	ORPHA:254525
8788	DLK1	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:254534
8788	DLK1	HP:0001250	Seizure	HP:0040283	ORPHA:96334
8788	DLK1	HP:0001252	Hypotonia	HP:0040283	ORPHA:96334
8788	DLK1	HP:0001252	Hypotonia	HP:0040281	ORPHA:254531
8788	DLK1	HP:0001252	Hypotonia	HP:0040282	ORPHA:254534
8788	DLK1	HP:0001252	Hypotonia	HP:0040281	ORPHA:254525
8788	DLK1	HP:0001252	Hypotonia	HP:0040283	ORPHA:254528
8788	DLK1	HP:0001252	Hypotonia	HP:0040281	ORPHA:96184
8788	DLK1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:254531
8788	DLK1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:254525
8788	DLK1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:96184
8788	DLK1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:96334
8788	DLK1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:254534
8788	DLK1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:254528
8788	DLK1	HP:0002557	Hypoplastic nipples	HP:0040283	ORPHA:96334
8788	DLK1	HP:0001239	Wrist flexion contracture	HP:0040283	ORPHA:254528
8788	DLK1	HP:0100864	Short femoral neck	HP:0040283	ORPHA:96334
8788	DLK1	HP:0001220	Interphalangeal joint contracture of finger	HP:0040283	ORPHA:96334
8788	DLK1	HP:0001371	Flexion contracture	HP:0040282	ORPHA:96334
8788	DLK1	HP:0001371	Flexion contracture	HP:0040282	ORPHA:254528
8788	DLK1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:254531
8788	DLK1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:254528
8788	DLK1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:96184
8788	DLK1	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:254528
8788	DLK1	HP:0002694	Sclerosis of skull base	HP:0040283	ORPHA:96334
8788	DLK1	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:96184
8788	DLK1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:96334
8788	DLK1	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:96334
8788	DLK1	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:254531
8788	DLK1	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:254534
8788	DLK1	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:254525
8788	DLK1	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:254528
8788	DLK1	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:96184
8788	DLK1	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:254534
8788	DLK1	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:254525
8788	DLK1	HP:0002673	Coxa valga	HP:0040283	ORPHA:96334
8788	DLK1	HP:0001339	Lissencephaly	HP:0040283	ORPHA:96334
8788	DLK1	HP:0002650	Scoliosis	HP:0040283	ORPHA:96184
8788	DLK1	HP:0002650	Scoliosis	HP:0040283	ORPHA:96334
8788	DLK1	HP:0002650	Scoliosis	HP:0040283	ORPHA:254531
8788	DLK1	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:254525
8788	DLK1	HP:0002645	Wormian bones	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000194	Open mouth	HP:0040283	ORPHA:254528
8788	DLK1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:96184
8788	DLK1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:96184
8788	DLK1	HP:0000158	Macroglossia	HP:0040283	ORPHA:254528
8788	DLK1	HP:0000158	Macroglossia	HP:0040282	ORPHA:96334
8788	DLK1	HP:0000175	Cleft palate	HP:0040283	ORPHA:96184
8788	DLK1	HP:0007685	Peripheral retinal avascularization	HP:0040283	ORPHA:96334
8788	DLK1	HP:0008947	Floppy infant	HP:0040283	ORPHA:254531
8788	DLK1	HP:0006267	Large placenta	HP:0040281	ORPHA:254534
8788	DLK1	HP:0006267	Large placenta	HP:0040281	ORPHA:96334
8788	DLK1	HP:0006267	Large placenta	HP:0040282	ORPHA:254528
8788	DLK1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:254525
8788	DLK1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:254528
8788	DLK1	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:96334
8788	DLK1	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:96334
8788	DLK1	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:254525
8788	DLK1	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:96184
8788	DLK1	HP:0002033	Poor suck	HP:0040282	ORPHA:254534
8788	DLK1	HP:0002002	Deep philtrum	HP:0040282	ORPHA:96334
8788	DLK1	HP:0005989	Redundant neck skin	HP:0040283	ORPHA:254528
8788	DLK1	HP:0005989	Redundant neck skin	HP:0040283	ORPHA:96334
8788	DLK1	HP:0004673	Decreased facial expression	HP:0040283	ORPHA:254531
8788	DLK1	HP:0002007	Frontal bossing	HP:0040283	ORPHA:96334
8788	DLK1	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:96334
8788	DLK1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:96334
8788	DLK1	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:96334
8788	DLK1	HP:0002057	Prominent glabella	HP:0040283	ORPHA:96334
8788	DLK1	HP:0009600	Thumb contracture	HP:0040283	ORPHA:96334
8788	DLK1	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:254534
8788	DLK1	HP:0010561	Undulate ribs	HP:0040283	ORPHA:96334
8788	DLK1	HP:0010511	Long toe	HP:0040283	ORPHA:254528
8788	DLK1	HP:0011823	Chin with horizontal crease	HP:0040282	ORPHA:96334
8788	DLK1	HP:0011824	Chin with H-shaped crease	HP:0040283	ORPHA:96334
8788	DLK1	HP:0002263	Exaggerated cupid's bow	HP:0040283	ORPHA:254528
8788	DLK1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:96334
8788	DLK1	HP:0010655	Epiphyseal stippling	HP:0040283	ORPHA:96334
8788	DLK1	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:254531
8788	DLK1	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:96184
8788	DLK1	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:254525
8788	DLK1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:96184
8788	DLK1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:96334
8788	DLK1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:254531
8788	DLK1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:254528
8788	DLK1	HP:0009826	Limb undergrowth	HP:0040282	ORPHA:96334
8788	DLK1	HP:0009832	Abnormal distal phalanx morphology of finger	HP:0040283	ORPHA:96334
8788	DLK1	HP:0009836	Broad distal phalanx of finger	HP:0040283	ORPHA:96334
8788	DLK1	HP:0010804	Tented upper lip vermilion	HP:0040283	ORPHA:96334
8788	DLK1	HP:0009824	Upper limb undergrowth	HP:0040283	ORPHA:96334
8788	DLK1	HP:0200055	Small hand	HP:0040281	ORPHA:254531
8788	DLK1	HP:0200055	Small hand	HP:0040281	ORPHA:254525
8788	DLK1	HP:0200055	Small hand	HP:0040281	ORPHA:96184
8788	DLK1	HP:0002307	Drooling	HP:0040283	ORPHA:96334
8788	DLK1	HP:0004904	Maturity-onset diabetes of the young	HP:0040283	ORPHA:96184
8788	DLK1	HP:0004904	Maturity-onset diabetes of the young	HP:0040283	ORPHA:254531
8788	DLK1	HP:0031878	Acromicria	HP:0040283	ORPHA:254525
8788	DLK1	HP:0004299	Hernia of the abdominal wall	HP:0040283	ORPHA:96334
8788	DLK1	HP:0001956	Truncal obesity	HP:0040282	ORPHA:96184
8788	DLK1	HP:0010034	Short 1st metacarpal	HP:0040283	ORPHA:96334
8788	DLK1	HP:0011344	Severe global developmental delay	HP:0040283	ORPHA:96334
8788	DLK1	HP:0011335	Frontal hirsutism	HP:0040282	ORPHA:96334
8788	DLK1	HP:0011343	Moderate global developmental delay	HP:0040283	ORPHA:96334
8788	DLK1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:96334
8788	DLK1	HP:0004322	Short stature	HP:0040283	ORPHA:96334
8788	DLK1	HP:0004322	Short stature	HP:0040282	ORPHA:96184
8788	DLK1	HP:0003049	Ulnar deviation of the wrist	HP:0040283	ORPHA:96334
8788	DLK1	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:96334
8788	DLK1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:254528
8788	DLK1	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:96334
8788	DLK1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:96184
8788	DLK1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:254531
8788	DLK1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:254525
8788	DLK1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:254531
8788	DLK1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:96334
8788	DLK1	HP:0012785	Flexion contracture of finger	HP:0040283	ORPHA:254528
8788	DLK1	HP:0000774	Narrow chest	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000773	Short ribs	HP:0040283	ORPHA:96334
8788	DLK1	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:254531
8788	DLK1	HP:0003124	Hypercholesterolemia	HP:0040283	ORPHA:254531
8788	DLK1	HP:0003124	Hypercholesterolemia	HP:0040283	ORPHA:96184
8788	DLK1	HP:0004415	Pulmonary artery stenosis	HP:0040283	ORPHA:96334
8788	DLK1	HP:0005736	Short tibia	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000919	Abnormality of the costochondral junction	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000924	Abnormality of the skeletal system	HP:0040282	ORPHA:96334
8788	DLK1	HP:0003186	Inverted nipples	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000907	Anterior rib cupping	HP:0040283	ORPHA:96334
8788	DLK1	HP:0004482	Relative macrocephaly	HP:0040283	ORPHA:254525
8788	DLK1	HP:0000882	Hypoplastic scapulae	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000890	Long clavicles	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000884	Prominent sternum	HP:0040283	ORPHA:254528
8788	DLK1	HP:0000884	Prominent sternum	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000817	Reduced eye contact	HP:0040283	ORPHA:254531
8788	DLK1	HP:0000826	Precocious puberty	HP:0040282	ORPHA:254531
8788	DLK1	HP:0000826	Precocious puberty	HP:0040281	ORPHA:96184
8788	DLK1	HP:0000826	Precocious puberty	HP:0040283	ORPHA:254525
8788	DLK1	HP:0040024	Clinodactyly of the 3rd finger	HP:0040283	ORPHA:96334
8788	DLK1	HP:0003241	External genital hypoplasia	HP:0040283	ORPHA:96334
8788	DLK1	HP:0010301	Spinal dysraphism	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000973	Cutis laxa	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:254528
8788	DLK1	HP:0045025	Narrow palpebral fissure	HP:0040283	ORPHA:254528
8788	DLK1	HP:0000946	Hypoplastic ilia	HP:0040283	ORPHA:96334
8788	DLK1	HP:0012284	Small proximal tibial epiphyses	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000286	Epicanthus	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000286	Epicanthus	HP:0040283	ORPHA:254528
8788	DLK1	HP:0000278	Retrognathia	HP:0040282	ORPHA:96334
8788	DLK1	HP:0000278	Retrognathia	HP:0040283	ORPHA:254528
8788	DLK1	HP:0000293	Full cheeks	HP:0040283	ORPHA:96184
8788	DLK1	HP:0000260	Wide anterior fontanel	HP:0040283	ORPHA:96334
8788	DLK1	HP:0030084	Clinodactyly	HP:0040283	ORPHA:254531
8788	DLK1	HP:0030084	Clinodactyly	HP:0040283	ORPHA:254525
8788	DLK1	HP:0030084	Clinodactyly	HP:0040283	ORPHA:96184
8788	DLK1	HP:0005054	Metaphyseal spurs	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000252	Microcephaly	HP:0040283	ORPHA:96334
8788	DLK1	HP:0002884	Hepatoblastoma	HP:0040283	ORPHA:96334
8788	DLK1	HP:0001548	Overgrowth	HP:0040283	ORPHA:254534
8788	DLK1	HP:0001548	Overgrowth	HP:0040284	ORPHA:96334
8788	DLK1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:254528
8788	DLK1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:96334
8788	DLK1	HP:0000218	High palate	HP:0040283	ORPHA:96184
8788	DLK1	HP:0000218	High palate	HP:0040283	ORPHA:254531
8788	DLK1	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:96334
8788	DLK1	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:254534
8788	DLK1	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:254528
8788	DLK1	HP:0001540	Diastasis recti	HP:0040282	ORPHA:254534
8788	DLK1	HP:0001540	Diastasis recti	HP:0040282	ORPHA:254528
8788	DLK1	HP:0001540	Diastasis recti	HP:0040282	ORPHA:96334
8788	DLK1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:254534
8788	DLK1	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:254528
8788	DLK1	HP:0001539	Omphalocele	HP:0040283	ORPHA:254534
8788	DLK1	HP:0001539	Omphalocele	HP:0040283	ORPHA:254528
8788	DLK1	HP:0001539	Omphalocele	HP:0040283	ORPHA:96334
8788	DLK1	HP:0001538	Protuberant abdomen	HP:0040283	ORPHA:96334
8788	DLK1	HP:0002866	Hypoplastic iliac wing	HP:0040282	ORPHA:96334
8788	DLK1	HP:0001520	Large for gestational age	HP:0040282	ORPHA:254534
8788	DLK1	HP:0001520	Large for gestational age	HP:0040283	ORPHA:96334
8788	DLK1	HP:0001518	Small for gestational age	HP:0040283	ORPHA:254534
8788	DLK1	HP:0001518	Small for gestational age	HP:0040282	ORPHA:96184
8788	DLK1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:254531
8788	DLK1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:254525
8788	DLK1	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:254528
8788	DLK1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:96184
8788	DLK1	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:96334
8788	DLK1	HP:0001510	Growth delay	HP:0040282	ORPHA:96334
8788	DLK1	HP:0001513	Obesity	HP:0040282	ORPHA:254531
8788	DLK1	HP:0001513	Obesity	HP:0040283	ORPHA:254525
8788	DLK1	HP:0001513	Obesity	HP:0040282	ORPHA:96184
8788	DLK1	HP:0012385	Camptodactyly	HP:0040283	ORPHA:96334
8788	DLK1	HP:0012385	Camptodactyly	HP:0040283	ORPHA:254528
8788	DLK1	HP:0005257	Thoracic hypoplasia	HP:0040281	ORPHA:254534
8788	DLK1	HP:0005257	Thoracic hypoplasia	HP:0040281	ORPHA:254528
8788	DLK1	HP:0005257	Thoracic hypoplasia	HP:0040282	ORPHA:96334
8788	DLK1	HP:0006591	Absent glenoid fossa	HP:0040283	ORPHA:96334
8788	DLK1	HP:0005268	Miscarriage	HP:0040282	ORPHA:96334
8788	DLK1	HP:0002937	Hemivertebrae	HP:0040283	ORPHA:96334
8788	DLK1	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:254528
8788	DLK1	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:96334
8788	DLK1	HP:0001615	Hoarse cry	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:254525
8788	DLK1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000341	Narrow forehead	HP:0040283	ORPHA:254528
8788	DLK1	HP:0000343	Long philtrum	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000337	Broad forehead	HP:0040283	ORPHA:254528
8788	DLK1	HP:0000347	Micrognathia	HP:0040283	ORPHA:96184
8788	DLK1	HP:0000347	Micrognathia	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000347	Micrognathia	HP:0040283	ORPHA:254531
8788	DLK1	HP:0000347	Micrognathia	HP:0040283	ORPHA:254525
8788	DLK1	HP:0002982	Tibial bowing	HP:0040283	ORPHA:96334
8788	DLK1	HP:0012303	Abnormal aortic arch morphology	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000322	Short philtrum	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000322	Short philtrum	HP:0040283	ORPHA:254531
8788	DLK1	HP:0000322	Short philtrum	HP:0040283	ORPHA:96184
8788	DLK1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:254534
8788	DLK1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:96334
8788	DLK1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:254534
8788	DLK1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:254525
8788	DLK1	HP:0001622	Premature birth	HP:0040282	ORPHA:96334
8788	DLK1	HP:0001622	Premature birth	HP:0040282	ORPHA:96184
8788	DLK1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:96334
8788	DLK1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:96334
8788	DLK1	HP:0006610	Wide intermamillary distance	HP:0040283	ORPHA:96334
8788	DLK1	HP:0006665	Coat hanger sign of ribs	HP:0040281	ORPHA:254534
8788	DLK1	HP:0006665	Coat hanger sign of ribs	HP:0040280	ORPHA:96334
8788	DLK1	HP:0006665	Coat hanger sign of ribs	HP:0040281	ORPHA:254528
8788	DLK1	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:254531
8788	DLK1	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:96184
8788	DLK1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:254528
8788	DLK1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:96184
8788	DLK1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:96334
8788	DLK1	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000490	Deeply set eye	HP:0040283	ORPHA:96334
8788	DLK1	HP:0001792	Small nail	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:254528
8788	DLK1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:96184
8788	DLK1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000470	Short neck	HP:0040282	ORPHA:96334
8788	DLK1	HP:0001773	Short foot	HP:0040281	ORPHA:254531
8788	DLK1	HP:0001773	Short foot	HP:0040281	ORPHA:254525
8788	DLK1	HP:0001773	Short foot	HP:0040281	ORPHA:96184
8788	DLK1	HP:0012428	Prominent calcaneus	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000445	Wide nose	HP:0040283	ORPHA:254531
8788	DLK1	HP:0000445	Wide nose	HP:0040283	ORPHA:96184
8788	DLK1	HP:0000445	Wide nose	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:96334
8788	DLK1	HP:0001845	Overlapping toe	HP:0040283	ORPHA:254528
8788	DLK1	HP:0001840	Metatarsus adductus	HP:0040283	ORPHA:96334
8788	DLK1	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:96334
8788	DLK1	HP:0011220	Prominent forehead	HP:0040282	ORPHA:254531
8788	DLK1	HP:0011220	Prominent forehead	HP:0040282	ORPHA:254525
8788	DLK1	HP:0011220	Prominent forehead	HP:0040283	ORPHA:96184
8788	DLK1	HP:0000565	Esotropia	HP:0040283	ORPHA:254528
8789	FBP2	HP:0002415	Leukodystrophy	2/3	OMIM:619864
8789	FBP2	HP:0001288	Gait disturbance	2/3	OMIM:619864
8789	FBP2	HP:0007359	Focal-onset seizure	1/3	OMIM:619864
8789	FBP2	HP:0002500	Abnormal cerebral white matter morphology	1/3	OMIM:619864
8789	FBP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619864
8789	FBP2	HP:0003593	Infantile onset	3/3	OMIM:619864
8789	FBP2	HP:0011968	Feeding difficulties	1/3	OMIM:619864
8789	FBP2	HP:0033454	Tube feeding	2/3	OMIM:619864
8789	FBP2	HP:0000737	Irritability	3/3	OMIM:619864
8792	TNFRSF11A	HP:0025124	Fragile teeth	-	OMIM:174810
8792	TNFRSF11A	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8792	TNFRSF11A	HP:0002423	Long-tract sign	-	OMIM:602080
8792	TNFRSF11A	HP:0001293	Cranial nerve compression	-	OMIM:131300
8792	TNFRSF11A	HP:0001290	Generalized hypotonia	1/8	OMIM:612301
8792	TNFRSF11A	HP:0001291	Abnormal cranial nerve morphology	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0001270	Motor delay	-	OMIM:612301
8792	TNFRSF11A	HP:0001252	Hypotonia	2/7	OMIM:615777
8792	TNFRSF11A	HP:0001249	Intellectual disability	5/7	OMIM:615777
8792	TNFRSF11A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0001263	Global developmental delay	-	OMIM:612301
8792	TNFRSF11A	HP:0001263	Global developmental delay	-	OMIM:615777
8792	TNFRSF11A	HP:0002515	Waddling gait	54/102	OMIM:131300
8792	TNFRSF11A	HP:0002514	Cerebral calcification	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0002512	Brain stem compression	-	OMIM:602080
8792	TNFRSF11A	HP:0003819	Death in childhood	1/8	OMIM:612301
8792	TNFRSF11A	HP:0001382	Joint hypermobility	-	OMIM:615777
8792	TNFRSF11A	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8792	TNFRSF11A	HP:0002694	Sclerosis of skull base	1/1	OMIM:602080
8792	TNFRSF11A	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8792	TNFRSF11A	HP:0003991	Osteosclerosis of the ulna	1/1	OMIM:602080
8792	TNFRSF11A	HP:0002659	Increased susceptibility to fractures	1/1	OMIM:602080
8792	TNFRSF11A	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8792	TNFRSF11A	HP:0001324	Muscle weakness	40/96	OMIM:131300
8792	TNFRSF11A	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8792	TNFRSF11A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8792	TNFRSF11A	HP:0000007	Autosomal recessive inheritance	-	OMIM:612301
8792	TNFRSF11A	HP:0000006	Autosomal dominant inheritance	-	OMIM:174810
8792	TNFRSF11A	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8792	TNFRSF11A	HP:0000006	Autosomal dominant inheritance	-	OMIM:602080
8792	TNFRSF11A	HP:0002653	Bone pain	-	OMIM:174810
8792	TNFRSF11A	HP:0002653	Bone pain	-	OMIM:602080
8792	TNFRSF11A	HP:0002650	Scoliosis	12/14	OMIM:131300
8792	TNFRSF11A	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8792	TNFRSF11A	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8792	TNFRSF11A	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8792	TNFRSF11A	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8792	TNFRSF11A	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:2801
8792	TNFRSF11A	HP:0000175	Cleft palate	2/7	OMIM:615777
8792	TNFRSF11A	HP:0002797	Osteolysis	12/20	OMIM:174810
8792	TNFRSF11A	HP:0002797	Osteolysis	-	OMIM:602080
8792	TNFRSF11A	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:2801
8792	TNFRSF11A	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:2801
8792	TNFRSF11A	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0002756	Pathologic fracture	-	OMIM:174810
8792	TNFRSF11A	HP:0002753	Thin bony cortex	-	OMIM:174810
8792	TNFRSF11A	HP:0002720	Decreased circulating IgA concentration	2/4	OMIM:612301
8792	TNFRSF11A	HP:0004618	Sandwich appearance of vertebral bodies	1/1	OMIM:602080
8792	TNFRSF11A	HP:0003301	Irregular vertebral endplates	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0003388	Easy fatigability	36/76	OMIM:131300
8792	TNFRSF11A	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8792	TNFRSF11A	HP:0002149	Hyperuricemia	HP:0040281	ORPHA:2801
8792	TNFRSF11A	HP:0002199	Hypocalcemic seizures	2/8	OMIM:612301
8792	TNFRSF11A	HP:0003593	Infantile onset	5/8	OMIM:612301
8792	TNFRSF11A	HP:0002273	Tetraparesis	-	OMIM:602080
8792	TNFRSF11A	HP:0002240	Hepatomegaly	4/8	OMIM:612301
8792	TNFRSF11A	HP:0003510	Severe short stature	7/7	OMIM:615777
8792	TNFRSF11A	HP:0002385	Paraparesis	-	OMIM:602080
8792	TNFRSF11A	HP:0002376	Developmental regression	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0003676	Progressive	-	OMIM:174810
8792	TNFRSF11A	HP:0003676	Progressive	-	OMIM:602080
8792	TNFRSF11A	HP:0002315	Headache	-	OMIM:131300
8792	TNFRSF11A	HP:0002315	Headache	1/1	OMIM:602080
8792	TNFRSF11A	HP:0004976	Knee dislocation	6/7	OMIM:615777
8792	TNFRSF11A	HP:0100670	Coarse metaphyseal trabecularization	HP:0040281	ORPHA:2801
8792	TNFRSF11A	HP:0100670	Coarse metaphyseal trabecularization	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0100671	Abnormal trabecular bone morphology	-	OMIM:612301
8792	TNFRSF11A	HP:0008513	Bilateral conductive hearing impairment	1/1	OMIM:602080
8792	TNFRSF11A	HP:0009803	Short phalanx of finger	-	OMIM:615777
8792	TNFRSF11A	HP:0008479	Hypoplastic vertebral bodies	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0009763	Limb pain	63/92	OMIM:131300
8792	TNFRSF11A	HP:0003623	Neonatal onset	3/8	OMIM:612301
8792	TNFRSF11A	HP:0003621	Juvenile onset	-	OMIM:131300
8792	TNFRSF11A	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8792	TNFRSF11A	HP:0031846	Femur fracture	1/8	OMIM:612301
8792	TNFRSF11A	HP:0006824	Cranial nerve paralysis	-	OMIM:602080
8792	TNFRSF11A	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8792	TNFRSF11A	HP:0000639	Nystagmus	4/8	OMIM:612301
8792	TNFRSF11A	HP:0000639	Nystagmus	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:6001056	Out-toeing	-	OMIM:131300
8792	TNFRSF11A	HP:0000651	Diplopia	-	OMIM:131300
8792	TNFRSF11A	HP:0000648	Optic atrophy	HP:0040282	ORPHA:2801
8792	TNFRSF11A	HP:0000648	Optic atrophy	-	OMIM:612301
8792	TNFRSF11A	HP:0000648	Optic atrophy	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0001956	Truncal obesity	2/7	OMIM:615777
8792	TNFRSF11A	HP:0001903	Anemia	HP:0040283	OMIM:131300
8792	TNFRSF11A	HP:0001903	Anemia	-	OMIM:612301
8792	TNFRSF11A	HP:0010049	Short metacarpal	-	OMIM:615777
8792	TNFRSF11A	HP:0000682	Abnormal dental enamel morphology	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0000678	Dental crowding	-	OMIM:615777
8792	TNFRSF11A	HP:0000670	Carious teeth	-	OMIM:131300
8792	TNFRSF11A	HP:0011304	Broad thumb	2/7	OMIM:615777
8792	TNFRSF11A	HP:0000668	Hypodontia	-	OMIM:615777
8792	TNFRSF11A	HP:0000664	Synophrys	-	OMIM:615777
8792	TNFRSF11A	HP:0004322	Short stature	HP:0040281	ORPHA:2801
8792	TNFRSF11A	HP:0004322	Short stature	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0004315	Decreased circulating IgG concentration	3/4	OMIM:612301
8792	TNFRSF11A	HP:0006956	Lateral ventricle dilatation	1/8	OMIM:612301
8792	TNFRSF11A	HP:0003072	Hypercalcemia	1/1	OMIM:602080
8792	TNFRSF11A	HP:0003084	Recurrent long bone fractures	-	OMIM:602080
8792	TNFRSF11A	HP:0003080	Hydroxyprolinuria	-	OMIM:602080
8792	TNFRSF11A	HP:0003080	Hydroxyprolinuria	-	OMIM:174810
8792	TNFRSF11A	HP:0004396	Poor appetite	-	OMIM:131300
8792	TNFRSF11A	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8792	TNFRSF11A	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8792	TNFRSF11A	HP:0034197	Third trimester onset	1/1	OMIM:602080
8792	TNFRSF11A	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8792	TNFRSF11A	HP:0003026	Short long bone	7/7	OMIM:615777
8792	TNFRSF11A	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8792	TNFRSF11A	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8792	TNFRSF11A	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:2801
8792	TNFRSF11A	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8792	TNFRSF11A	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8792	TNFRSF11A	HP:0000750	Delayed speech and language development	-	OMIM:615777
8792	TNFRSF11A	HP:0011461	Fetal onset	7/7	OMIM:615777
8792	TNFRSF11A	HP:0000774	Narrow chest	2/7	OMIM:615777
8792	TNFRSF11A	HP:0004437	Cranial hyperostosis	HP:0040281	ORPHA:2801
8792	TNFRSF11A	HP:0000926	Platyspondyly	1/7	OMIM:615777
8792	TNFRSF11A	HP:0000926	Platyspondyly	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0003180	Flat acetabular roof	-	OMIM:615777
8792	TNFRSF11A	HP:0003155	Elevated circulating alkaline phosphatase concentration	-	OMIM:174810
8792	TNFRSF11A	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:602080
8792	TNFRSF11A	HP:0004482	Relative macrocephaly	-	OMIM:615777
8792	TNFRSF11A	HP:0004493	Craniofacial hyperostosis	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8792	TNFRSF11A	HP:0000889	Abnormal clavicle morphology	HP:0040281	ORPHA:2801
8792	TNFRSF11A	HP:0003097	Short femur	1/1	OMIM:602080
8792	TNFRSF11A	HP:0000822	Hypertension	HP:0040282	ORPHA:2801
8792	TNFRSF11A	HP:0000823	Delayed puberty	-	OMIM:131300
8792	TNFRSF11A	HP:0000894	Short clavicles	-	OMIM:615777
8792	TNFRSF11A	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8792	TNFRSF11A	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:2801
8792	TNFRSF11A	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8792	TNFRSF11A	HP:0000939	Osteoporosis	HP:0040281	ORPHA:2801
8792	TNFRSF11A	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1782
8792	TNFRSF11A	HP:0040194	Increased head circumference	1/8	OMIM:612301
8792	TNFRSF11A	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:2801
8792	TNFRSF11A	HP:0000286	Epicanthus	1/7	OMIM:615777
8792	TNFRSF11A	HP:0000280	Coarse facial features	2/7	OMIM:615777
8792	TNFRSF11A	HP:0000256	Macrocephaly	HP:0040281	ORPHA:2801
8792	TNFRSF11A	HP:0000256	Macrocephaly	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0002827	Hip dislocation	3/7	OMIM:615777
8792	TNFRSF11A	HP:0000238	Hydrocephalus	1/8	OMIM:612301
8792	TNFRSF11A	HP:0000252	Microcephaly	-	OMIM:615777
8792	TNFRSF11A	HP:0002857	Genu valgum	-	OMIM:131300
8792	TNFRSF11A	HP:0001522	Death in infancy	2/8	OMIM:612301
8792	TNFRSF11A	HP:0001533	Slender build	-	OMIM:131300
8792	TNFRSF11A	HP:0002850	Decreased circulating total IgM	2/4	OMIM:612301
8792	TNFRSF11A	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8792	TNFRSF11A	HP:0001510	Growth delay	3/8	OMIM:612301
8792	TNFRSF11A	HP:0007807	Optic nerve compression	-	OMIM:612301
8792	TNFRSF11A	HP:0007807	Optic nerve compression	-	OMIM:131300
8792	TNFRSF11A	HP:0012368	Flat face	7/7	OMIM:615777
8792	TNFRSF11A	HP:0006532	Recurrent pneumonia	-	OMIM:612301
8792	TNFRSF11A	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8792	TNFRSF11A	HP:0006480	Premature loss of teeth	-	OMIM:174810
8792	TNFRSF11A	HP:0006480	Premature loss of teeth	-	OMIM:602080
8792	TNFRSF11A	HP:0006487	Bowing of the long bones	-	OMIM:174810
8792	TNFRSF11A	HP:0006487	Bowing of the long bones	-	OMIM:602080
8792	TNFRSF11A	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:2801
8792	TNFRSF11A	HP:0000365	Hearing impairment	HP:0040282	ORPHA:2801
8792	TNFRSF11A	HP:0000365	Hearing impairment	10/67	OMIM:131300
8792	TNFRSF11A	HP:0000365	Hearing impairment	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0000343	Long philtrum	1/7	OMIM:615777
8792	TNFRSF11A	HP:0011002	Osteopetrosis	8/8	OMIM:612301
8792	TNFRSF11A	HP:0011001	Increased bone mineral density	-	OMIM:131300
8792	TNFRSF11A	HP:0011001	Increased bone mineral density	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0002980	Femoral bowing	1/1	OMIM:602080
8792	TNFRSF11A	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0000311	Round face	2/7	OMIM:615777
8792	TNFRSF11A	HP:0001629	Ventricular septal defect	HP:0040281	ORPHA:1782
8792	TNFRSF11A	HP:0002953	Vertebral compression fracture	-	OMIM:602080
8792	TNFRSF11A	HP:0002970	Genu varum	-	OMIM:615777
8792	TNFRSF11A	HP:0000303	Mandibular prognathia	-	OMIM:131300
8792	TNFRSF11A	HP:0006640	Multiple rib fractures	1/8	OMIM:612301
8792	TNFRSF11A	HP:0000405	Conductive hearing impairment	16/20	OMIM:174810
8792	TNFRSF11A	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8792	TNFRSF11A	HP:0000470	Short neck	1/7	OMIM:615777
8792	TNFRSF11A	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8792	TNFRSF11A	HP:0001763	Pes planus	1/7	OMIM:615777
8792	TNFRSF11A	HP:0001744	Splenomegaly	3/8	OMIM:612301
8792	TNFRSF11A	HP:0001840	Metatarsus adductus	-	OMIM:615777
8792	TNFRSF11A	HP:0000529	Progressive visual loss	8/8	OMIM:612301
8792	TNFRSF11A	HP:0000520	Proptosis	2/4	OMIM:131300
8792	TNFRSF11A	HP:0000520	Proptosis	1/8	OMIM:612301
8792	TNFRSF11A	HP:0000520	Proptosis	7/7	OMIM:615777
8792	TNFRSF11A	HP:0000592	Blue sclerae	2/7	OMIM:615777
8792	TNFRSF11A	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8792	TNFRSF11A	HP:0012514	Lower limb pain	4/4	OMIM:131300
8795	TNFRSF10B	HP:0000007	Autosomal recessive inheritance	-	OMIM:275355
8795	TNFRSF10B	HP:0002860	Squamous cell carcinoma	-	OMIM:275355
8799	PEX11B	HP:0001133	Constriction of peripheral visual field	HP:0040281	ORPHA:772
8799	PEX11B	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:912
8799	PEX11B	HP:0001276	Hypertonia	1/1	OMIM:614920
8799	PEX11B	HP:0001271	Polyneuropathy	-	OMIM:614920
8799	PEX11B	HP:0001284	Areflexia	-	OMIM:614920
8799	PEX11B	HP:0001256	Intellectual disability, mild	1/1	OMIM:614920
8799	PEX11B	HP:0001250	Seizure	HP:0040283	ORPHA:772
8799	PEX11B	HP:0001250	Seizure	HP:0040281	ORPHA:44
8799	PEX11B	HP:0001250	Seizure	HP:0040282	ORPHA:912
8799	PEX11B	HP:0001252	Hypotonia	HP:0040282	ORPHA:772
8799	PEX11B	HP:0001252	Hypotonia	HP:0040281	ORPHA:44
8799	PEX11B	HP:0001251	Ataxia	HP:0040282	ORPHA:772
8799	PEX11B	HP:0001249	Intellectual disability	1/1	OMIM:614920
8799	PEX11B	HP:0001263	Global developmental delay	HP:0040281	ORPHA:772
8799	PEX11B	HP:0001257	Spasticity	HP:0040282	ORPHA:772
8799	PEX11B	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:912
8799	PEX11B	HP:0002522	Areflexia of lower limbs	1/1	OMIM:614920
8799	PEX11B	HP:0002505	Loss of ambulation	1/1	OMIM:614920
8799	PEX11B	HP:0001399	Hepatic failure	HP:0040281	ORPHA:912
8799	PEX11B	HP:0001392	Abnormality of the liver	HP:0040281	ORPHA:44
8799	PEX11B	HP:0000047	Hypospadias	HP:0040282	ORPHA:912
8799	PEX11B	HP:0000020	Urinary incontinence	-	OMIM:614920
8799	PEX11B	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:44
8799	PEX11B	HP:0000034	Hydrocele testis	-	OMIM:614920
8799	PEX11B	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:912
8799	PEX11B	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:912
8799	PEX11B	HP:0001324	Muscle weakness	-	OMIM:614920
8799	PEX11B	HP:0000007	Autosomal recessive inheritance	-	OMIM:614920
8799	PEX11B	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:912
8799	PEX11B	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:912
8799	PEX11B	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:912
8799	PEX11B	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:912
8799	PEX11B	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:44
8799	PEX11B	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:44
8799	PEX11B	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:912
8799	PEX11B	HP:0002024	Malabsorption	HP:0040282	ORPHA:912
8799	PEX11B	HP:0002021	Pyloric stenosis	HP:0040282	ORPHA:912
8799	PEX11B	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:772
8799	PEX11B	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:912
8799	PEX11B	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:912
8799	PEX11B	HP:0002076	Migraine	1/1	OMIM:614920
8799	PEX11B	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:772
8799	PEX11B	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:772
8799	PEX11B	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:912
8799	PEX11B	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:912
8799	PEX11B	HP:0010571	Elevated circulating phytanic acid concentration	HP:0040281	ORPHA:772
8799	PEX11B	HP:0008207	Primary adrenal insufficiency	HP:0040281	ORPHA:44
8799	PEX11B	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:912
8799	PEX11B	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:44
8799	PEX11B	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:772
8799	PEX11B	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:912
8799	PEX11B	HP:0010655	Epiphyseal stippling	HP:0040281	ORPHA:912
8799	PEX11B	HP:0010628	Facial palsy	HP:0040283	ORPHA:772
8799	PEX11B	HP:0007099	Chiari type I malformation	1/1	OMIM:614920
8799	PEX11B	HP:0002376	Developmental regression	HP:0040281	ORPHA:44
8799	PEX11B	HP:0002353	EEG abnormality	HP:0040281	ORPHA:44
8799	PEX11B	HP:0002353	EEG abnormality	HP:0040281	ORPHA:912
8799	PEX11B	HP:0002353	EEG abnormality	0/1	OMIM:614920
8799	PEX11B	HP:0001088	Brushfield spots	HP:0040283	ORPHA:912
8799	PEX11B	HP:0003621	Juvenile onset	1/1	OMIM:614920
8799	PEX11B	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:912
8799	PEX11B	HP:0000639	Nystagmus	HP:0040282	ORPHA:772
8799	PEX11B	HP:0000639	Nystagmus	HP:0040281	ORPHA:44
8799	PEX11B	HP:0000639	Nystagmus	1/1	OMIM:614920
8799	PEX11B	HP:0000639	Nystagmus	HP:0040282	ORPHA:912
8799	PEX11B	HP:0000648	Optic atrophy	HP:0040283	ORPHA:772
8799	PEX11B	HP:0000648	Optic atrophy	HP:0040281	ORPHA:44
8799	PEX11B	HP:0000648	Optic atrophy	HP:0040282	ORPHA:912
8799	PEX11B	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:912
8799	PEX11B	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:912
8799	PEX11B	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:44
8799	PEX11B	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:44
8799	PEX11B	HP:0000662	Nyctalopia	HP:0040281	ORPHA:772
8799	PEX11B	HP:0004322	Short stature	HP:0040281	ORPHA:772
8799	PEX11B	HP:0004322	Short stature	HP:0040281	ORPHA:44
8799	PEX11B	HP:0004322	Short stature	HP:0040281	ORPHA:912
8799	PEX11B	HP:0012736	Profound global developmental delay	HP:0040281	ORPHA:912
8799	PEX11B	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:44
8799	PEX11B	HP:0000708	Atypical behavior	HP:0040282	ORPHA:772
8799	PEX11B	HP:0000958	Dry skin	-	OMIM:614920
8799	PEX11B	HP:0000952	Jaundice	HP:0040281	ORPHA:912
8799	PEX11B	HP:0008064	Ichthyosis	HP:0040283	ORPHA:772
8799	PEX11B	HP:0011675	Arrhythmia	HP:0040283	ORPHA:772
8799	PEX11B	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:44
8799	PEX11B	HP:0000286	Epicanthus	HP:0040281	ORPHA:912
8799	PEX11B	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:44
8799	PEX11B	HP:0000260	Wide anterior fontanel	HP:0040281	ORPHA:912
8799	PEX11B	HP:0000256	Macrocephaly	HP:0040282	ORPHA:44
8799	PEX11B	HP:0000256	Macrocephaly	HP:0040282	ORPHA:912
8799	PEX11B	HP:0000271	Abnormality of the face	HP:0040283	ORPHA:772
8799	PEX11B	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:44
8799	PEX11B	HP:0001583	Rotary nystagmus	1/1	OMIM:614920
8799	PEX11B	HP:0000252	Microcephaly	HP:0040282	ORPHA:912
8799	PEX11B	HP:0000218	High palate	HP:0040282	ORPHA:912
8799	PEX11B	HP:0001522	Death in infancy	HP:0040281	ORPHA:912
8799	PEX11B	HP:0001508	Failure to thrive	HP:0040281	ORPHA:772
8799	PEX11B	HP:0001508	Failure to thrive	HP:0040281	ORPHA:912
8799	PEX11B	HP:0012368	Flat face	HP:0040281	ORPHA:912
8799	PEX11B	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:912
8799	PEX11B	HP:0000365	Hearing impairment	HP:0040282	ORPHA:772
8799	PEX11B	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:44
8799	PEX11B	HP:0000348	High forehead	HP:0040281	ORPHA:44
8799	PEX11B	HP:0000348	High forehead	HP:0040281	ORPHA:912
8799	PEX11B	HP:0000347	Micrognathia	HP:0040282	ORPHA:912
8799	PEX11B	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:912
8799	PEX11B	HP:0001622	Premature birth	HP:0040282	ORPHA:912
8799	PEX11B	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:772
8799	PEX11B	HP:0007957	Corneal opacity	HP:0040281	ORPHA:912
8799	PEX11B	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:772
8799	PEX11B	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:44
8799	PEX11B	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:912
8799	PEX11B	HP:0001730	Progressive hearing impairment	1/1	OMIM:614920
8799	PEX11B	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:912
8799	PEX11B	HP:0000486	Strabismus	HP:0040281	ORPHA:44
8799	PEX11B	HP:0000486	Strabismus	1/1	OMIM:614920
8799	PEX11B	HP:0000463	Anteverted nares	HP:0040281	ORPHA:44
8799	PEX11B	HP:0000474	Thickened nuchal skin fold	HP:0040283	ORPHA:912
8799	PEX11B	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:44
8799	PEX11B	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:912
8799	PEX11B	HP:0005469	Flat occiput	HP:0040282	ORPHA:912
8799	PEX11B	HP:0000518	Cataract	HP:0040283	ORPHA:772
8799	PEX11B	HP:0000518	Cataract	HP:0040282	ORPHA:44
8799	PEX11B	HP:0000518	Cataract	HP:0040282	ORPHA:912
8799	PEX11B	HP:0000519	Developmental cataract	2/2	OMIM:614920
8799	PEX11B	HP:0000510	Rod-cone dystrophy	HP:0040281	ORPHA:772
8799	PEX11B	HP:0000508	Ptosis	HP:0040282	ORPHA:44
8799	PEX11B	HP:0000505	Visual impairment	HP:0040281	ORPHA:772
8799	PEX11B	HP:0000505	Visual impairment	HP:0040282	ORPHA:44
8799	PEX11B	HP:0000505	Visual impairment	HP:0040282	ORPHA:912
8799	PEX11B	HP:0000501	Glaucoma	HP:0040283	ORPHA:912
8799	PEX11B	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:912
8799	PEX11B	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:912
8799	PEX11B	HP:0000545	Myopia	1/1	OMIM:614920
8802	SUCLG1	HP:0002487	Hyperkinetic movements	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0002490	Increased CSF lactate	1/1	OMIM:245400
8802	SUCLG1	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:17
8802	SUCLG1	HP:0010864	Intellectual disability, severe	1/1	OMIM:245400
8802	SUCLG1	HP:0500181	Hypertaurinemia	-	OMIM:245400
8802	SUCLG1	HP:0002421	Poor head control	1/1	OMIM:245400
8802	SUCLG1	HP:0001298	Encephalopathy	-	OMIM:245400
8802	SUCLG1	HP:0001298	Encephalopathy	HP:0040282	ORPHA:17
8802	SUCLG1	HP:0001276	Hypertonia	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0001270	Motor delay	1/1	OMIM:245400
8802	SUCLG1	HP:0001284	Areflexia	1/1	OMIM:245400
8802	SUCLG1	HP:0001250	Seizure	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0001252	Hypotonia	3/3	OMIM:245400
8802	SUCLG1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:17
8802	SUCLG1	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:17
8802	SUCLG1	HP:0001263	Global developmental delay	-	OMIM:245400
8802	SUCLG1	HP:0003819	Death in childhood	1/1	OMIM:245400
8802	SUCLG1	HP:0003811	Neonatal death	3/3	OMIM:245400
8802	SUCLG1	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:17
8802	SUCLG1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0000047	Hypospadias	HP:0040284	ORPHA:17
8802	SUCLG1	HP:0012087	Abnormal mitochondrial shape	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0001332	Dystonia	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:245400
8802	SUCLG1	HP:0001336	Myoclonus	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0002643	Neonatal respiratory distress	-	OMIM:245400
8802	SUCLG1	HP:0012120	Methylmalonic aciduria	2/2	OMIM:245400
8802	SUCLG1	HP:0012120	Methylmalonic aciduria	HP:0040280	ORPHA:17
8802	SUCLG1	HP:0008947	Floppy infant	1/1	OMIM:245400
8802	SUCLG1	HP:0008947	Floppy infant	HP:0040281	ORPHA:17
8802	SUCLG1	HP:0008936	Axial hypotonia	1/1	OMIM:245400
8802	SUCLG1	HP:0008935	Generalized neonatal hypotonia	2/2	OMIM:245400
8802	SUCLG1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0002013	Vomiting	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0002098	Respiratory distress	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0002093	Respiratory insufficiency	-	OMIM:245400
8802	SUCLG1	HP:0002045	Hypothermia	3/3	OMIM:245400
8802	SUCLG1	HP:0002045	Hypothermia	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:17
8802	SUCLG1	HP:0002059	Cerebral atrophy	-	OMIM:245400
8802	SUCLG1	HP:0010442	Polydactyly	HP:0040284	ORPHA:17
8802	SUCLG1	HP:0002154	Hyperglycinemia	-	OMIM:245400
8802	SUCLG1	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:17
8802	SUCLG1	HP:0002104	Apnea	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0004742	Abnormal renal collecting system morphology	HP:0040284	ORPHA:17
8802	SUCLG1	HP:0011924	Decreased activity of mitochondrial complex III	-	OMIM:245400
8802	SUCLG1	HP:0011924	Decreased activity of mitochondrial complex III	HP:0040282	ORPHA:17
8802	SUCLG1	HP:0011923	Decreased activity of mitochondrial complex I	-	OMIM:245400
8802	SUCLG1	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040282	ORPHA:17
8802	SUCLG1	HP:0003593	Infantile onset	1/1	OMIM:245400
8802	SUCLG1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:17
8802	SUCLG1	HP:0003557	Increased variability in muscle fiber diameter	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0003535	3-Methylglutaconic aciduria	HP:0040281	ORPHA:17
8802	SUCLG1	HP:0008347	Decreased activity of mitochondrial complex IV	-	OMIM:245400
8802	SUCLG1	HP:0008347	Decreased activity of mitochondrial complex IV	HP:0040282	ORPHA:17
8802	SUCLG1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:17
8802	SUCLG1	HP:0011968	Feeding difficulties	1/1	OMIM:245400
8802	SUCLG1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0002352	Leukoencephalopathy	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0003648	Lacticaciduria	3/3	OMIM:245400
8802	SUCLG1	HP:0002317	Unsteady gait	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0003623	Neonatal onset	3/3	OMIM:245400
8802	SUCLG1	HP:0007183	Focal T2 hyperintense basal ganglia lesion	1/2	OMIM:245400
8802	SUCLG1	HP:0001943	Hypoglycemia	2/2	OMIM:245400
8802	SUCLG1	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:245400
8802	SUCLG1	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:245400
8802	SUCLG1	HP:0012751	Abnormal basal ganglia MRI signal intensity	HP:0040281	ORPHA:17
8802	SUCLG1	HP:0000736	Short attention span	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0012707	Elevated brain lactate level by MRS	-	OMIM:245400
8802	SUCLG1	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	-	OMIM:245400
8802	SUCLG1	HP:0005792	Short humerus	HP:0040284	ORPHA:17
8802	SUCLG1	HP:0003128	Lactic acidosis	2/2	OMIM:245400
8802	SUCLG1	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:17
8802	SUCLG1	HP:0003097	Short femur	HP:0040284	ORPHA:17
8802	SUCLG1	HP:0003219	Ethylmalonic aciduria	HP:0040284	ORPHA:17
8802	SUCLG1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:17
8802	SUCLG1	HP:0003202	Skeletal muscle atrophy	-	OMIM:245400
8802	SUCLG1	HP:0003200	Ragged-red muscle fibers	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0003201	Rhabdomyolysis	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0000975	Hyperhidrosis	1/1	OMIM:245400
8802	SUCLG1	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0011611	Interrupted aortic arch	HP:0040284	ORPHA:17
8802	SUCLG1	HP:0012240	Increased intramyocellular lipid droplets	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0000252	Microcephaly	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0032653	Elevated lactate:pyruvate ratio	3/3	OMIM:245400
8802	SUCLG1	HP:0002878	Respiratory failure	-	OMIM:245400
8802	SUCLG1	HP:0001522	Death in infancy	1/2	OMIM:245400
8802	SUCLG1	HP:0000202	Orofacial cleft	HP:0040284	ORPHA:17
8802	SUCLG1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:17
8802	SUCLG1	HP:0001508	Failure to thrive	-	OMIM:245400
8802	SUCLG1	HP:0001511	Intrauterine growth retardation	2/3	OMIM:245400
8802	SUCLG1	HP:0001510	Growth delay	HP:0040282	ORPHA:17
8802	SUCLG1	HP:0001510	Growth delay	-	OMIM:245400
8802	SUCLG1	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:17
8802	SUCLG1	HP:0002912	Methylmalonic acidemia	HP:0040280	ORPHA:17
8802	SUCLG1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:17
8802	SUCLG1	HP:0000365	Hearing impairment	1/1	OMIM:245400
8802	SUCLG1	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:17
8802	SUCLG1	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:17
8802	SUCLG1	HP:0001655	Patent foramen ovale	HP:0040284	ORPHA:17
8802	SUCLG1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0032988	Persistent head lag	1/1	OMIM:245400
8802	SUCLG1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0000486	Strabismus	HP:0040283	ORPHA:17
8802	SUCLG1	HP:0000508	Ptosis	HP:0040283	ORPHA:17
8803	SUCLA2	HP:0002487	Hyperkinetic movements	12/12	OMIM:612073
8803	SUCLA2	HP:0002490	Increased CSF lactate	4/4	OMIM:612073
8803	SUCLA2	HP:0002448	Progressive encephalopathy	-	OMIM:612073
8803	SUCLA2	HP:0001270	Motor delay	12/12	OMIM:612073
8803	SUCLA2	HP:0001250	Seizure	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0001250	Seizure	-	OMIM:612073
8803	SUCLA2	HP:0001252	Hypotonia	14/14	OMIM:612073
8803	SUCLA2	HP:0001251	Ataxia	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0001265	Hyporeflexia	-	OMIM:612073
8803	SUCLA2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0001257	Spasticity	-	OMIM:612073
8803	SUCLA2	HP:0002540	Inability to walk	-	OMIM:612073
8803	SUCLA2	HP:0002514	Cerebral calcification	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0001349	Facial diplegia	-	OMIM:612073
8803	SUCLA2	HP:0008872	Feeding difficulties in infancy	-	OMIM:612073
8803	SUCLA2	HP:0001332	Dystonia	12/12	OMIM:612073
8803	SUCLA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:612073
8803	SUCLA2	HP:0012120	Methylmalonic aciduria	10/10	OMIM:612073
8803	SUCLA2	HP:0012120	Methylmalonic aciduria	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0008972	Decreased activity of mitochondrial respiratory chain	-	OMIM:612073
8803	SUCLA2	HP:0008945	Loss of ability to walk in early childhood	-	OMIM:612073
8803	SUCLA2	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:612073
8803	SUCLA2	HP:0003355	Aminoaciduria	-	OMIM:612073
8803	SUCLA2	HP:0003355	Aminoaciduria	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0002020	Gastroesophageal reflux	1/2	OMIM:612073
8803	SUCLA2	HP:0002059	Cerebral atrophy	-	OMIM:612073
8803	SUCLA2	HP:0002151	Increased circulating lactate concentration	8/10	OMIM:612073
8803	SUCLA2	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0002134	Abnormal basal ganglia morphology	-	OMIM:612073
8803	SUCLA2	HP:0002197	Generalized-onset seizure	2/2	OMIM:612073
8803	SUCLA2	HP:0002194	Delayed gross motor development	-	OMIM:612073
8803	SUCLA2	HP:0002194	Delayed gross motor development	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0003593	Infantile onset	1/2	OMIM:612073
8803	SUCLA2	HP:0002230	Generalized hirsutism	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0002283	Global brain atrophy	1/2	OMIM:612073
8803	SUCLA2	HP:0009830	Peripheral neuropathy	-	OMIM:612073
8803	SUCLA2	HP:0002305	Athetosis	-	OMIM:612073
8803	SUCLA2	HP:0006887	Intellectual disability, progressive	-	OMIM:612073
8803	SUCLA2	HP:0006887	Intellectual disability, progressive	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0000649	Abnormality of visual evoked potentials	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0000602	Ophthalmoplegia	-	OMIM:612073
8803	SUCLA2	HP:0001935	Microcytic anemia	2/2	OMIM:612073
8803	SUCLA2	HP:0011344	Severe global developmental delay	2/2	OMIM:612073
8803	SUCLA2	HP:0004322	Short stature	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0004322	Short stature	8/11	OMIM:612073
8803	SUCLA2	HP:0004326	Cachexia	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0000762	Decreased nerve conduction velocity	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0000737	Irritability	1/2	OMIM:612073
8803	SUCLA2	HP:0000708	Atypical behavior	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0003128	Lactic acidosis	-	OMIM:612073
8803	SUCLA2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:612073
8803	SUCLA2	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0003202	Skeletal muscle atrophy	12/12	OMIM:612073
8803	SUCLA2	HP:0000975	Hyperhidrosis	4/12	OMIM:612073
8803	SUCLA2	HP:0000252	Microcephaly	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0001508	Failure to thrive	1/12	OMIM:612073
8803	SUCLA2	HP:0001518	Small for gestational age	2/2	OMIM:612073
8803	SUCLA2	HP:0002912	Methylmalonic acidemia	5/5	OMIM:612073
8803	SUCLA2	HP:0000365	Hearing impairment	12/13	OMIM:612073
8803	SUCLA2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0000407	Sensorineural hearing impairment	-	OMIM:612073
8803	SUCLA2	HP:0000486	Strabismus	-	OMIM:612073
8803	SUCLA2	HP:0012469	Infantile spasms	1/12	OMIM:612073
8803	SUCLA2	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0000508	Ptosis	HP:0040281	ORPHA:1933
8803	SUCLA2	HP:0000508	Ptosis	1/2	OMIM:612073
8803	SUCLA2	HP:0000505	Visual impairment	HP:0040281	ORPHA:1933
8812	CCNK	HP:0001182	Tapered finger	1/4	OMIM:618147
8812	CCNK	HP:0009928	Thick nasal alae	4/4	OMIM:618147
8812	CCNK	HP:0009890	High anterior hairline	3/4	OMIM:618147
8812	CCNK	HP:0010862	Delayed fine motor development	4/4	OMIM:618147
8812	CCNK	HP:0010864	Intellectual disability, severe	3/4	OMIM:618147
8812	CCNK	HP:0001263	Global developmental delay	4/4	OMIM:618147
8812	CCNK	HP:0000006	Autosomal dominant inheritance	-	OMIM:618147
8812	CCNK	HP:0002194	Delayed gross motor development	4/4	OMIM:618147
8812	CCNK	HP:0002342	Intellectual disability, moderate	1/4	OMIM:618147
8812	CCNK	HP:0004209	Clinodactyly of the 5th finger	1/4	OMIM:618147
8812	CCNK	HP:0000637	Long palpebral fissure	4/4	OMIM:618147
8812	CCNK	HP:0100023	Recurrent hand flapping	1/4	OMIM:618147
8812	CCNK	HP:0000750	Delayed speech and language development	4/4	OMIM:618147
8812	CCNK	HP:0000729	Autistic behavior	2/4	OMIM:618147
8812	CCNK	HP:0012801	Narrow jaw	4/4	OMIM:618147
8812	CCNK	HP:0045074	Thin eyebrow	4/4	OMIM:618147
8812	CCNK	HP:0000256	Macrocephaly	2/4	OMIM:618147
8812	CCNK	HP:0000219	Thin upper lip vermilion	4/4	OMIM:618147
8812	CCNK	HP:0000358	Posteriorly rotated ears	4/4	OMIM:618147
8812	CCNK	HP:0000369	Low-set ears	4/4	OMIM:618147
8812	CCNK	HP:0000343	Long philtrum	3/4	OMIM:618147
8812	CCNK	HP:0000316	Hypertelorism	4/4	OMIM:618147
8812	CCNK	HP:0000455	Broad nasal tip	4/4	OMIM:618147
8812	CCNK	HP:0012434	Delayed early-childhood social milestone development	3/3	OMIM:618147
8812	CCNK	HP:0001763	Pes planus	1/4	OMIM:618147
8812	CCNK	HP:0000431	Wide nasal bridge	-	OMIM:618147
8813	DPM1	HP:0001103	Abnormal macular morphology	-	OMIM:608799
8813	DPM1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8813	DPM1	HP:0001298	Encephalopathy	HP:0040283	ORPHA:79322
8813	DPM1	HP:0001293	Cranial nerve compression	-	OMIM:131300
8813	DPM1	HP:0001290	Generalized hypotonia	-	OMIM:608799
8813	DPM1	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:79322
8813	DPM1	HP:0001250	Seizure	-	OMIM:608799
8813	DPM1	HP:0001250	Seizure	HP:0040281	ORPHA:79322
8813	DPM1	HP:0001252	Hypotonia	-	OMIM:608799
8813	DPM1	HP:0001252	Hypotonia	2/7	OMIM:615777
8813	DPM1	HP:0001251	Ataxia	-	OMIM:608799
8813	DPM1	HP:0001251	Ataxia	HP:0040283	ORPHA:79322
8813	DPM1	HP:0001249	Intellectual disability	5/7	OMIM:615777
8813	DPM1	HP:0001263	Global developmental delay	-	OMIM:615777
8813	DPM1	HP:0001257	Spasticity	HP:0040283	ORPHA:79322
8813	DPM1	HP:0007333	Hypoplasia of the frontal lobes	HP:0040283	ORPHA:79322
8813	DPM1	HP:0002515	Waddling gait	54/102	OMIM:131300
8813	DPM1	HP:0003828	Variable expressivity	-	OMIM:608799
8813	DPM1	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:79322
8813	DPM1	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:79322
8813	DPM1	HP:0001382	Joint hypermobility	-	OMIM:615777
8813	DPM1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8813	DPM1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8813	DPM1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8813	DPM1	HP:0001324	Muscle weakness	40/96	OMIM:131300
8813	DPM1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8813	DPM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608799
8813	DPM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8813	DPM1	HP:0001337	Tremor	-	OMIM:608799
8813	DPM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8813	DPM1	HP:0002650	Scoliosis	12/14	OMIM:131300
8813	DPM1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8813	DPM1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8813	DPM1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8813	DPM1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8813	DPM1	HP:0000175	Cleft palate	2/7	OMIM:615777
8813	DPM1	HP:0008947	Floppy infant	HP:0040281	ORPHA:79322
8813	DPM1	HP:0002705	High, narrow palate	-	OMIM:608799
8813	DPM1	HP:0002705	High, narrow palate	HP:0040282	ORPHA:79322
8813	DPM1	HP:0025404	Abnormal visual fixation	HP:0040283	ORPHA:79322
8813	DPM1	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:79322
8813	DPM1	HP:0002014	Diarrhea	HP:0040283	ORPHA:79322
8813	DPM1	HP:0002098	Respiratory distress	-	OMIM:608799
8813	DPM1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:79322
8813	DPM1	HP:0002057	Prominent glabella	HP:0040283	ORPHA:79322
8813	DPM1	HP:0003388	Easy fatigability	36/76	OMIM:131300
8813	DPM1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8813	DPM1	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:79322
8813	DPM1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:79322
8813	DPM1	HP:0002164	Nail dysplasia	-	OMIM:608799
8813	DPM1	HP:0002164	Nail dysplasia	HP:0040283	ORPHA:79322
8813	DPM1	HP:0003593	Infantile onset	-	OMIM:608799
8813	DPM1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:79322
8813	DPM1	HP:0002240	Hepatomegaly	-	OMIM:608799
8813	DPM1	HP:0100704	Cerebral visual impairment	-	OMIM:608799
8813	DPM1	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:79322
8813	DPM1	HP:0003560	Muscular dystrophy	-	OMIM:608799
8813	DPM1	HP:0003560	Muscular dystrophy	HP:0040283	ORPHA:79322
8813	DPM1	HP:0004855	Reduced protein S activity	-	OMIM:608799
8813	DPM1	HP:0004855	Reduced protein S activity	HP:0040282	ORPHA:79322
8813	DPM1	HP:0003510	Severe short stature	7/7	OMIM:615777
8813	DPM1	HP:0002395	Lower limb hyperreflexia	-	OMIM:608799
8813	DPM1	HP:0001028	Hemangioma	-	OMIM:608799
8813	DPM1	HP:0003676	Progressive	-	OMIM:608799
8813	DPM1	HP:0001009	Telangiectasia	-	OMIM:608799
8813	DPM1	HP:0002353	EEG abnormality	-	OMIM:608799
8813	DPM1	HP:0002315	Headache	-	OMIM:131300
8813	DPM1	HP:0004976	Knee dislocation	6/7	OMIM:615777
8813	DPM1	HP:0003645	Prolonged partial thromboplastin time	-	OMIM:608799
8813	DPM1	HP:0009826	Limb undergrowth	HP:0040283	ORPHA:79322
8813	DPM1	HP:0010819	Atonic seizure	HP:0040283	ORPHA:79322
8813	DPM1	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:79322
8813	DPM1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:79322
8813	DPM1	HP:0010804	Tented upper lip vermilion	HP:0040283	ORPHA:79322
8813	DPM1	HP:0010806	U-Shaped upper lip vermilion	HP:0040283	ORPHA:79322
8813	DPM1	HP:0009824	Upper limb undergrowth	-	OMIM:608799
8813	DPM1	HP:0009803	Short phalanx of finger	-	OMIM:615777
8813	DPM1	HP:0200055	Small hand	-	OMIM:608799
8813	DPM1	HP:0009763	Limb pain	63/92	OMIM:131300
8813	DPM1	HP:0003642	Type I transferrin isoform profile	-	OMIM:608799
8813	DPM1	HP:0003621	Juvenile onset	-	OMIM:131300
8813	DPM1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8813	DPM1	HP:0005543	Reduced protein C activity	-	OMIM:608799
8813	DPM1	HP:0005543	Reduced protein C activity	HP:0040282	ORPHA:79322
8813	DPM1	HP:0004279	Short palm	-	OMIM:608799
8813	DPM1	HP:0006879	Pontocerebellar atrophy	-	OMIM:608799
8813	DPM1	HP:0006879	Pontocerebellar atrophy	HP:0040283	ORPHA:79322
8813	DPM1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8813	DPM1	HP:0000639	Nystagmus	-	OMIM:608799
8813	DPM1	HP:0000639	Nystagmus	HP:0040283	ORPHA:79322
8813	DPM1	HP:6001056	Out-toeing	-	OMIM:131300
8813	DPM1	HP:0000651	Diplopia	-	OMIM:131300
8813	DPM1	HP:0001976	Reduced antithrombin III activity	-	OMIM:608799
8813	DPM1	HP:0001976	Reduced antithrombin III activity	HP:0040282	ORPHA:79322
8813	DPM1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:79322
8813	DPM1	HP:0000648	Optic atrophy	-	OMIM:608799
8813	DPM1	HP:0001956	Truncal obesity	2/7	OMIM:615777
8813	DPM1	HP:0001903	Anemia	HP:0040283	OMIM:131300
8813	DPM1	HP:0010049	Short metacarpal	-	OMIM:615777
8813	DPM1	HP:0011344	Severe global developmental delay	-	OMIM:608799
8813	DPM1	HP:0000678	Dental crowding	-	OMIM:615777
8813	DPM1	HP:0000670	Carious teeth	-	OMIM:131300
8813	DPM1	HP:0011304	Broad thumb	2/7	OMIM:615777
8813	DPM1	HP:0000668	Hypodontia	-	OMIM:615777
8813	DPM1	HP:0000664	Synophrys	-	OMIM:615777
8813	DPM1	HP:0004396	Poor appetite	-	OMIM:131300
8813	DPM1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8813	DPM1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8813	DPM1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8813	DPM1	HP:0003026	Short long bone	7/7	OMIM:615777
8813	DPM1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8813	DPM1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8813	DPM1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8813	DPM1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8813	DPM1	HP:0000750	Delayed speech and language development	-	OMIM:615777
8813	DPM1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:79322
8813	DPM1	HP:0011461	Fetal onset	7/7	OMIM:615777
8813	DPM1	HP:0000774	Narrow chest	2/7	OMIM:615777
8813	DPM1	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:79322
8813	DPM1	HP:0000926	Platyspondyly	1/7	OMIM:615777
8813	DPM1	HP:0003186	Inverted nipples	HP:0040283	ORPHA:79322
8813	DPM1	HP:0100321	Abnormal dentate nucleus morphology	HP:0040282	ORPHA:79322
8813	DPM1	HP:0003180	Flat acetabular roof	-	OMIM:615777
8813	DPM1	HP:0004482	Relative macrocephaly	-	OMIM:615777
8813	DPM1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8813	DPM1	HP:0000823	Delayed puberty	-	OMIM:131300
8813	DPM1	HP:0000894	Short clavicles	-	OMIM:615777
8813	DPM1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:79322
8813	DPM1	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:608799
8813	DPM1	HP:0003241	External genital hypoplasia	HP:0040283	ORPHA:79322
8813	DPM1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8813	DPM1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8813	DPM1	HP:0000286	Epicanthus	1/7	OMIM:615777
8813	DPM1	HP:0000280	Coarse facial features	2/7	OMIM:615777
8813	DPM1	HP:0000293	Full cheeks	HP:0040283	ORPHA:79322
8813	DPM1	HP:0006466	Ankle flexion contracture	-	OMIM:608799
8813	DPM1	HP:0002827	Hip dislocation	3/7	OMIM:615777
8813	DPM1	HP:0006380	Knee flexion contracture	-	OMIM:608799
8813	DPM1	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:79322
8813	DPM1	HP:0000243	Trigonocephaly	HP:0040283	ORPHA:79322
8813	DPM1	HP:0000252	Microcephaly	-	OMIM:615777
8813	DPM1	HP:0002857	Genu valgum	-	OMIM:131300
8813	DPM1	HP:0001533	Slender build	-	OMIM:131300
8813	DPM1	HP:0001508	Failure to thrive	-	OMIM:608799
8813	DPM1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79322
8813	DPM1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8813	DPM1	HP:0007807	Optic nerve compression	-	OMIM:131300
8813	DPM1	HP:0012385	Camptodactyly	-	OMIM:608799
8813	DPM1	HP:0012385	Camptodactyly	HP:0040283	ORPHA:79322
8813	DPM1	HP:0012368	Flat face	7/7	OMIM:615777
8813	DPM1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8813	DPM1	HP:0002910	Elevated circulating hepatic transaminase concentration	20/20	OMIM:608799
8813	DPM1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:79322
8813	DPM1	HP:0000365	Hearing impairment	10/67	OMIM:131300
8813	DPM1	HP:0000343	Long philtrum	1/7	OMIM:615777
8813	DPM1	HP:0011001	Increased bone mineral density	-	OMIM:131300
8813	DPM1	HP:0000347	Micrognathia	-	OMIM:608799
8813	DPM1	HP:0000347	Micrognathia	HP:0040283	ORPHA:79322
8813	DPM1	HP:0000319	Smooth philtrum	-	OMIM:608799
8813	DPM1	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:79322
8813	DPM1	HP:0000316	Hypertelorism	-	OMIM:608799
8813	DPM1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:79322
8813	DPM1	HP:0001643	Patent ductus arteriosus	-	OMIM:608799
8813	DPM1	HP:0000311	Round face	2/7	OMIM:615777
8813	DPM1	HP:0002970	Genu varum	-	OMIM:615777
8813	DPM1	HP:0000303	Mandibular prognathia	-	OMIM:131300
8813	DPM1	HP:0011152	Early onset absence seizures	HP:0040283	ORPHA:79322
8813	DPM1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:79322
8813	DPM1	HP:0005280	Depressed nasal bridge	-	OMIM:608799
8813	DPM1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8813	DPM1	HP:0000486	Strabismus	-	OMIM:608799
8813	DPM1	HP:0000486	Strabismus	HP:0040283	ORPHA:79322
8813	DPM1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:79322
8813	DPM1	HP:0000494	Downslanted palpebral fissures	-	OMIM:608799
8813	DPM1	HP:0000488	Retinopathy	-	OMIM:608799
8813	DPM1	HP:0000488	Retinopathy	HP:0040283	ORPHA:79322
8813	DPM1	HP:0012448	Delayed myelination	HP:0040282	ORPHA:79322
8813	DPM1	HP:0000470	Short neck	1/7	OMIM:615777
8813	DPM1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8813	DPM1	HP:0001763	Pes planus	1/7	OMIM:615777
8813	DPM1	HP:0001744	Splenomegaly	-	OMIM:608799
8813	DPM1	HP:0005484	Secondary microcephaly	-	OMIM:608799
8813	DPM1	HP:0005484	Secondary microcephaly	HP:0040281	ORPHA:79322
8813	DPM1	HP:0005469	Flat occiput	-	OMIM:608799
8813	DPM1	HP:0005469	Flat occiput	HP:0040283	ORPHA:79322
8813	DPM1	HP:0001847	Long hallux	HP:0040283	ORPHA:79322
8813	DPM1	HP:0001840	Metatarsus adductus	-	OMIM:615777
8813	DPM1	HP:0001852	Sandal gap	HP:0040283	ORPHA:79322
8813	DPM1	HP:0000520	Proptosis	2/4	OMIM:131300
8813	DPM1	HP:0000520	Proptosis	7/7	OMIM:615777
8813	DPM1	HP:0000592	Blue sclerae	2/7	OMIM:615777
8813	DPM1	HP:0000565	Esotropia	HP:0040283	ORPHA:79322
8813	DPM1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8813	DPM1	HP:0012514	Lower limb pain	4/4	OMIM:131300
8815	BANF1	HP:0001371	Flexion contracture	2/2	OMIM:614008
8815	BANF1	HP:0001387	Joint stiffness	2/2	OMIM:614008
8815	BANF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614008
8815	BANF1	HP:0002650	Scoliosis	2/2	OMIM:614008
8815	BANF1	HP:0002621	Atherosclerosis	0/2	OMIM:614008
8815	BANF1	HP:0001476	Delayed closure of the anterior fontanelle	2/2	OMIM:614008
8815	BANF1	HP:0002797	Osteolysis	4/4	OMIM:614008
8815	BANF1	HP:0031295	Left atrial enlargement	1/2	OMIM:614008
8815	BANF1	HP:0002756	Pathologic fracture	1/2	OMIM:614008
8815	BANF1	HP:0011800	Midface retrusion	2/2	OMIM:614008
8815	BANF1	HP:0002094	Dyspnea	1/2	OMIM:614008
8815	BANF1	HP:0002092	Pulmonary arterial hypertension	1/2	OMIM:614008
8815	BANF1	HP:0100578	Lipoatrophy	3/4	OMIM:614008
8815	BANF1	HP:0011712	Complete right bundle branch block	2/2	OMIM:614008
8815	BANF1	HP:0011703	Sinus tachycardia	2/2	OMIM:614008
8815	BANF1	HP:0010537	Wide cranial sutures	1/2	OMIM:614008
8815	BANF1	HP:0002209	Sparse scalp hair	1/2	OMIM:614008
8815	BANF1	HP:0008404	Nail dystrophy	1/2	OMIM:614008
8815	BANF1	HP:0002280	Enlarged cisterna magna	1/2	OMIM:614008
8815	BANF1	HP:0002389	Cavum septum pellucidum	1/2	OMIM:614008
8815	BANF1	HP:0001015	Prominent superficial veins	1/2	OMIM:614008
8815	BANF1	HP:0009839	Osteolytic defects of the distal phalanges of the hand	2/2	OMIM:614008
8815	BANF1	HP:0034047	Rib osteolysis	2/2	OMIM:614008
8815	BANF1	HP:0034046	Mandibular osteolysis	4/4	OMIM:614008
8815	BANF1	HP:0005585	Spotty hyperpigmentation	2/2	OMIM:614008
8815	BANF1	HP:0000678	Dental crowding	2/2	OMIM:614008
8815	BANF1	HP:0000689	Dental malocclusion	1/2	OMIM:614008
8815	BANF1	HP:0000653	Sparse eyelashes	2/2	OMIM:614008
8815	BANF1	HP:0004322	Short stature	2/2	OMIM:614008
8815	BANF1	HP:0011463	Childhood onset	4/4	OMIM:614008
8815	BANF1	HP:0000905	Progressive clavicular acroosteolysis	2/2	OMIM:614008
8815	BANF1	HP:0030718	Right atrial enlargement	1/2	OMIM:614008
8815	BANF1	HP:0000883	Thin ribs	1/2	OMIM:614008
8815	BANF1	HP:0000822	Hypertension	0/2	OMIM:614008
8815	BANF1	HP:0003292	Decreased serum leptin	1/2	OMIM:614008
8815	BANF1	HP:0045075	Sparse eyebrow	2/2	OMIM:614008
8815	BANF1	HP:0000958	Dry skin	2/2	OMIM:614008
8815	BANF1	HP:0000939	Osteoporosis	4/4	OMIM:614008
8815	BANF1	HP:0001596	Alopecia	2/2	OMIM:614008
8815	BANF1	HP:0000233	Thin vermilion border	1/2	OMIM:614008
8815	BANF1	HP:0001508	Failure to thrive	3/4	OMIM:614008
8815	BANF1	HP:0001510	Growth delay	1/2	OMIM:614008
8815	BANF1	HP:0002996	Limited elbow movement	2/2	OMIM:614008
8815	BANF1	HP:0000347	Micrognathia	2/2	OMIM:614008
8815	BANF1	HP:0001653	Mitral regurgitation	1/2	OMIM:614008
8815	BANF1	HP:0000308	Microretrognathia	2/2	OMIM:614008
8815	BANF1	HP:0005328	Progeroid facial appearance	3/4	OMIM:614008
8815	BANF1	HP:0000444	Convex nasal ridge	2/2	OMIM:614008
8815	BANF1	HP:0000520	Proptosis	3/4	OMIM:614008
8818	DPM2	HP:0002476	Primitive reflex	-	OMIM:615042
8818	DPM2	HP:0010851	EEG with burst suppression	HP:0040283	ORPHA:329178
8818	DPM2	HP:0002421	Poor head control	HP:0040282	ORPHA:329178
8818	DPM2	HP:0001290	Generalized hypotonia	-	OMIM:615042
8818	DPM2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:329178
8818	DPM2	HP:0001250	Seizure	-	OMIM:615042
8818	DPM2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:329178
8818	DPM2	HP:0001263	Global developmental delay	-	OMIM:615042
8818	DPM2	HP:0410362	Decreased O-mannosyl glycans on alpha-dystroglycan	-	OMIM:615042
8818	DPM2	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:329178
8818	DPM2	HP:0001344	Absent speech	HP:0040282	ORPHA:329178
8818	DPM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615042
8818	DPM2	HP:0002650	Scoliosis	-	OMIM:615042
8818	DPM2	HP:0002650	Scoliosis	HP:0040282	ORPHA:329178
8818	DPM2	HP:0001321	Cerebellar hypoplasia	-	OMIM:615042
8818	DPM2	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:329178
8818	DPM2	HP:0002643	Neonatal respiratory distress	-	OMIM:615042
8818	DPM2	HP:0002002	Deep philtrum	HP:0040283	ORPHA:329178
8818	DPM2	HP:0002098	Respiratory distress	-	OMIM:615042
8818	DPM2	HP:0002098	Respiratory distress	HP:0040283	ORPHA:329178
8818	DPM2	HP:0002058	Myopathic facies	HP:0040282	ORPHA:329178
8818	DPM2	HP:0002058	Myopathic facies	-	OMIM:615042
8818	DPM2	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:329178
8818	DPM2	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:329178
8818	DPM2	HP:0003577	Congenital onset	-	OMIM:615042
8818	DPM2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:329178
8818	DPM2	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:329178
8818	DPM2	HP:0200134	Epileptic encephalopathy	HP:0040282	ORPHA:329178
8818	DPM2	HP:0011968	Feeding difficulties	-	OMIM:615042
8818	DPM2	HP:0002375	Hypokinesia	-	OMIM:615042
8818	DPM2	HP:0003642	Type I transferrin isoform profile	HP:0040282	ORPHA:329178
8818	DPM2	HP:0007179	Absent smooth pursuit	HP:0040282	ORPHA:329178
8818	DPM2	HP:0006829	Severe muscular hypotonia	-	OMIM:615042
8818	DPM2	HP:0001976	Reduced antithrombin III activity	HP:0040283	ORPHA:329178
8818	DPM2	HP:0000648	Optic atrophy	HP:0040282	OMIM:615042
8818	DPM2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:329178
8818	DPM2	HP:0000601	Hypotelorism	HP:0040283	ORPHA:329178
8818	DPM2	HP:0000601	Hypotelorism	-	OMIM:615042
8818	DPM2	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:329178
8818	DPM2	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:329178
8818	DPM2	HP:0012762	Cerebral white matter atrophy	HP:0040283	ORPHA:329178
8818	DPM2	HP:0012762	Cerebral white matter atrophy	-	OMIM:615042
8818	DPM2	HP:0005781	Contractures of the large joints	HP:0040282	ORPHA:329178
8818	DPM2	HP:0003196	Short nose	-	OMIM:615042
8818	DPM2	HP:0003196	Short nose	HP:0040283	ORPHA:329178
8818	DPM2	HP:0003160	Abnormal isoelectric focusing of serum transferrin	-	OMIM:615042
8818	DPM2	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:615042
8818	DPM2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:329178
8818	DPM2	HP:0003241	External genital hypoplasia	HP:0040283	ORPHA:329178
8818	DPM2	HP:0000938	Osteopenia	HP:0040282	ORPHA:329178
8818	DPM2	HP:0000294	Low anterior hairline	HP:0040283	ORPHA:329178
8818	DPM2	HP:0002803	Congenital contracture	-	OMIM:615042
8818	DPM2	HP:0000243	Trigonocephaly	HP:0040283	ORPHA:329178
8818	DPM2	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:329178
8818	DPM2	HP:0000219	Thin upper lip vermilion	-	OMIM:615042
8818	DPM2	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:329178
8818	DPM2	HP:0000218	High palate	-	OMIM:615042
8818	DPM2	HP:0000218	High palate	HP:0040283	ORPHA:329178
8818	DPM2	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:329178
8818	DPM2	HP:0001522	Death in infancy	-	OMIM:615042
8818	DPM2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:329178
8818	DPM2	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:615042
8818	DPM2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:329178
8818	DPM2	HP:0000347	Micrognathia	-	OMIM:615042
8818	DPM2	HP:0000347	Micrognathia	HP:0040282	ORPHA:329178
8818	DPM2	HP:0011169	Generalized clonic seizure	HP:0040282	ORPHA:329178
8818	DPM2	HP:0000486	Strabismus	-	OMIM:615042
8818	DPM2	HP:0000486	Strabismus	HP:0040283	ORPHA:329178
8818	DPM2	HP:0005484	Secondary microcephaly	-	OMIM:615042
8820	HESX1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:226307
8820	HESX1	HP:0009888	Abnormality of secondary sexual hair	HP:0040282	ORPHA:95494
8820	HESX1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8820	HESX1	HP:0001293	Cranial nerve compression	-	OMIM:131300
8820	HESX1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:226307
8820	HESX1	HP:0001274	Agenesis of corpus callosum	HP:0040284	ORPHA:95494
8820	HESX1	HP:0001274	Agenesis of corpus callosum	-	OMIM:182230
8820	HESX1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:3157
8820	HESX1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
8820	HESX1	HP:0001254	Lethargy	HP:0040282	ORPHA:226307
8820	HESX1	HP:0001250	Seizure	HP:0040282	ORPHA:3157
8820	HESX1	HP:0001250	Seizure	HP:0040283	ORPHA:95496
8820	HESX1	HP:0001250	Seizure	HP:0040284	ORPHA:95494
8820	HESX1	HP:0001250	Seizure	HP:0040283	ORPHA:478
8820	HESX1	HP:0001252	Hypotonia	HP:0040283	ORPHA:226307
8820	HESX1	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
8820	HESX1	HP:0001252	Hypotonia	2/7	OMIM:615777
8820	HESX1	HP:0001251	Ataxia	HP:0040283	ORPHA:478
8820	HESX1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3157
8820	HESX1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:95496
8820	HESX1	HP:0001249	Intellectual disability	5/7	OMIM:615777
8820	HESX1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:226307
8820	HESX1	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
8820	HESX1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:3157
8820	HESX1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:95496
8820	HESX1	HP:0001263	Global developmental delay	-	OMIM:615777
8820	HESX1	HP:0001263	Global developmental delay	20/20	OMIM:182230
8820	HESX1	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:3157
8820	HESX1	HP:0100842	Septo-optic dysplasia	HP:0040284	ORPHA:95494
8820	HESX1	HP:0100842	Septo-optic dysplasia	HP:0040283	ORPHA:95496
8820	HESX1	HP:0100842	Septo-optic dysplasia	HP:0040281	ORPHA:3157
8820	HESX1	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:95494
8820	HESX1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
8820	HESX1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:95496
8820	HESX1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:3157
8820	HESX1	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
8820	HESX1	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:3157
8820	HESX1	HP:0031098	Decreased thyroid-stimulating hormone level	HP:0040281	ORPHA:226307
8820	HESX1	HP:0002515	Waddling gait	54/102	OMIM:131300
8820	HESX1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:226307
8820	HESX1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:95494
8820	HESX1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
8820	HESX1	HP:0000054	Micropenis	HP:0040281	ORPHA:478
8820	HESX1	HP:0001382	Joint hypermobility	-	OMIM:615777
8820	HESX1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8820	HESX1	HP:0001360	Holoprosencephaly	HP:0040284	ORPHA:95494
8820	HESX1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3157
8820	HESX1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:95496
8820	HESX1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
8820	HESX1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8820	HESX1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:226307
8820	HESX1	HP:0008828	Delayed proximal femoral epiphyseal ossification	HP:0040282	ORPHA:226307
8820	HESX1	HP:0001331	Absent septum pellucidum	-	OMIM:182230
8820	HESX1	HP:0001331	Absent septum pellucidum	HP:0040284	ORPHA:95494
8820	HESX1	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:3157
8820	HESX1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8820	HESX1	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
8820	HESX1	HP:0001324	Muscle weakness	40/96	OMIM:131300
8820	HESX1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8820	HESX1	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
8820	HESX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8820	HESX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:182230
8820	HESX1	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
8820	HESX1	HP:0001337	Tremor	HP:0040283	ORPHA:478
8820	HESX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8820	HESX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:182230
8820	HESX1	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
8820	HESX1	HP:0002650	Scoliosis	12/14	OMIM:131300
8820	HESX1	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:226307
8820	HESX1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8820	HESX1	HP:0002615	Hypotension	HP:0040282	ORPHA:95494
8820	HESX1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8820	HESX1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8820	HESX1	HP:0025483	Abnormal circulating thyroglobulin concentration	-	ORPHA:226307
8820	HESX1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8820	HESX1	HP:0000158	Macroglossia	HP:0040282	ORPHA:226307
8820	HESX1	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
8820	HESX1	HP:0000175	Cleft palate	HP:0040282	ORPHA:3157
8820	HESX1	HP:0000175	Cleft palate	2/7	OMIM:615777
8820	HESX1	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
8820	HESX1	HP:0000141	Amenorrhea	HP:0040282	ORPHA:95494
8820	HESX1	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
8820	HESX1	HP:0031218	Inappropriate antidiuretic hormone secretion	HP:0040283	ORPHA:226307
8820	HESX1	HP:0031219	Reduced radioactive iodine uptake	HP:0040281	ORPHA:226307
8820	HESX1	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
8820	HESX1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
8820	HESX1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:95494
8820	HESX1	HP:0002019	Constipation	HP:0040282	ORPHA:226307
8820	HESX1	HP:0002019	Constipation	HP:0040283	ORPHA:95494
8820	HESX1	HP:0002019	Constipation	HP:0040283	ORPHA:3157
8820	HESX1	HP:0002032	Esophageal atresia	HP:0040283	ORPHA:3157
8820	HESX1	HP:0005990	Thyroid hypoplasia	HP:0040282	ORPHA:226307
8820	HESX1	HP:0004637	Decreased cervical spine mobility	HP:0040283	ORPHA:226307
8820	HESX1	HP:0004637	Decreased cervical spine mobility	HP:0040284	ORPHA:95494
8820	HESX1	HP:0011800	Midface retrusion	HP:0040283	ORPHA:226307
8820	HESX1	HP:0002045	Hypothermia	HP:0040282	ORPHA:226307
8820	HESX1	HP:0003388	Easy fatigability	36/76	OMIM:131300
8820	HESX1	HP:0010442	Polydactyly	-	OMIM:182230
8820	HESX1	HP:0010442	Polydactyly	HP:0040284	ORPHA:95494
8820	HESX1	HP:0011755	Ectopic posterior pituitary	HP:0040284	ORPHA:95494
8820	HESX1	HP:0011755	Ectopic posterior pituitary	HP:0040283	ORPHA:226307
8820	HESX1	HP:0011755	Ectopic posterior pituitary	HP:0040280	ORPHA:95496
8820	HESX1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8820	HESX1	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:226307
8820	HESX1	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:95494
8820	HESX1	HP:0008245	Pituitary hypothyroidism	HP:0040281	ORPHA:226307
8820	HESX1	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:95494
8820	HESX1	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
8820	HESX1	HP:0008202	Reduced circulating prolactin concentration	HP:0040282	ORPHA:226307
8820	HESX1	HP:0010627	Anterior pituitary hypoplasia	-	OMIM:182230
8820	HESX1	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:226307
8820	HESX1	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:95494
8820	HESX1	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:3157
8820	HESX1	HP:0010626	Anterior pituitary agenesis	HP:0040282	ORPHA:95494
8820	HESX1	HP:0003510	Severe short stature	7/7	OMIM:615777
8820	HESX1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:3157
8820	HESX1	HP:0002315	Headache	-	OMIM:131300
8820	HESX1	HP:0004976	Knee dislocation	6/7	OMIM:615777
8820	HESX1	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
8820	HESX1	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:3157
8820	HESX1	HP:0009803	Short phalanx of finger	-	OMIM:615777
8820	HESX1	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
8820	HESX1	HP:0009763	Limb pain	63/92	OMIM:131300
8820	HESX1	HP:0003621	Juvenile onset	-	OMIM:131300
8820	HESX1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8820	HESX1	HP:0009099	Median cleft palate	HP:0040284	ORPHA:95494
8820	HESX1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8820	HESX1	HP:0000639	Nystagmus	HP:0040282	ORPHA:3157
8820	HESX1	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
8820	HESX1	HP:6001056	Out-toeing	-	OMIM:131300
8820	HESX1	HP:0000651	Diplopia	-	OMIM:131300
8820	HESX1	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:226307
8820	HESX1	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:95496
8820	HESX1	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:95494
8820	HESX1	HP:0001959	Polydipsia	HP:0040283	ORPHA:3157
8820	HESX1	HP:0001956	Truncal obesity	2/7	OMIM:615777
8820	HESX1	HP:0000609	Optic nerve hypoplasia	-	OMIM:182230
8820	HESX1	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:226307
8820	HESX1	HP:0000609	Optic nerve hypoplasia	HP:0040284	ORPHA:95494
8820	HESX1	HP:0000609	Optic nerve hypoplasia	HP:0040281	ORPHA:3157
8820	HESX1	HP:0001903	Anemia	HP:0040283	OMIM:131300
8820	HESX1	HP:0010049	Short metacarpal	-	OMIM:615777
8820	HESX1	HP:0011344	Severe global developmental delay	HP:0040284	ORPHA:95494
8820	HESX1	HP:0000678	Dental crowding	-	OMIM:615777
8820	HESX1	HP:0000670	Carious teeth	-	OMIM:131300
8820	HESX1	HP:0011304	Broad thumb	2/7	OMIM:615777
8820	HESX1	HP:0000668	Hypodontia	-	OMIM:615777
8820	HESX1	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:226307
8820	HESX1	HP:0000664	Synophrys	-	OMIM:615777
8820	HESX1	HP:0004322	Short stature	HP:0040282	ORPHA:3157
8820	HESX1	HP:0004322	Short stature	HP:0040281	ORPHA:95496
8820	HESX1	HP:0004322	Short stature	-	OMIM:182230
8820	HESX1	HP:0005625	Osteoporosis of vertebrae	HP:0040283	ORPHA:95494
8820	HESX1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
8820	HESX1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:3157
8820	HESX1	HP:0004396	Poor appetite	-	OMIM:131300
8820	HESX1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8820	HESX1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8820	HESX1	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:3157
8820	HESX1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8820	HESX1	HP:0003026	Short long bone	7/7	OMIM:615777
8820	HESX1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8820	HESX1	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
8820	HESX1	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
8820	HESX1	HP:0012731	Ectopic anterior pituitary gland	HP:0040284	ORPHA:95494
8820	HESX1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8820	HESX1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8820	HESX1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8820	HESX1	HP:0000750	Delayed speech and language development	-	OMIM:615777
8820	HESX1	HP:0000717	Autism	HP:0040283	ORPHA:3157
8820	HESX1	HP:0011461	Fetal onset	7/7	OMIM:615777
8820	HESX1	HP:0011437	Maternal autoimmune disease	-	ORPHA:226307
8820	HESX1	HP:0000774	Narrow chest	2/7	OMIM:615777
8820	HESX1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:226307
8820	HESX1	HP:0000789	Infertility	HP:0040282	ORPHA:95494
8820	HESX1	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:95496
8820	HESX1	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
8820	HESX1	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
8820	HESX1	HP:0000926	Platyspondyly	1/7	OMIM:615777
8820	HESX1	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
8820	HESX1	HP:0003180	Flat acetabular roof	-	OMIM:615777
8820	HESX1	HP:0004482	Relative macrocephaly	-	OMIM:615777
8820	HESX1	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
8820	HESX1	HP:0004491	Large posterior fontanelle	HP:0040282	ORPHA:226307
8820	HESX1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8820	HESX1	HP:0000873	Diabetes insipidus	-	OMIM:182230
8820	HESX1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:95496
8820	HESX1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:3157
8820	HESX1	HP:0000871	Panhypopituitarism	HP:0040282	ORPHA:226307
8820	HESX1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040281	ORPHA:95496
8820	HESX1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040282	ORPHA:3157
8820	HESX1	HP:0000839	Pituitary dwarfism	HP:0040283	ORPHA:226307
8820	HESX1	HP:0000839	Pituitary dwarfism	HP:0040283	ORPHA:95494
8820	HESX1	HP:0000835	Adrenal hypoplasia	HP:0040283	ORPHA:95496
8820	HESX1	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
8820	HESX1	HP:0000821	Hypothyroidism	HP:0040282	ORPHA:95496
8820	HESX1	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:182230
8820	HESX1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:226307
8820	HESX1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:95494
8820	HESX1	HP:0000823	Delayed puberty	-	OMIM:131300
8820	HESX1	HP:0000823	Delayed puberty	HP:0040282	ORPHA:95496
8820	HESX1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:95494
8820	HESX1	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
8820	HESX1	HP:0040075	Hypopituitarism	HP:0040282	ORPHA:226307
8820	HESX1	HP:0040075	Hypopituitarism	HP:0040280	ORPHA:95494
8820	HESX1	HP:0040086	Abnormal prolactin level	HP:0040282	ORPHA:95494
8820	HESX1	HP:0000894	Short clavicles	-	OMIM:615777
8820	HESX1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8820	HESX1	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:95494
8820	HESX1	HP:0000958	Dry skin	HP:0040283	ORPHA:3157
8820	HESX1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8820	HESX1	HP:0000966	Hypohidrosis	HP:0040283	ORPHA:3157
8820	HESX1	HP:0000938	Osteopenia	HP:0040282	ORPHA:95494
8820	HESX1	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
8820	HESX1	HP:0009381	Short finger	-	OMIM:182230
8820	HESX1	HP:0009381	Short finger	HP:0040283	ORPHA:226307
8820	HESX1	HP:0000286	Epicanthus	1/7	OMIM:615777
8820	HESX1	HP:0000282	Facial edema	HP:0040282	ORPHA:226307
8820	HESX1	HP:0000280	Coarse facial features	2/7	OMIM:615777
8820	HESX1	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:226307
8820	HESX1	HP:0007766	Optic disc hypoplasia	-	OMIM:182230
8820	HESX1	HP:0002827	Hip dislocation	3/7	OMIM:615777
8820	HESX1	HP:0000252	Microcephaly	-	OMIM:615777
8820	HESX1	HP:0025502	Overweight	HP:0040283	ORPHA:226307
8820	HESX1	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
8820	HESX1	HP:0002857	Genu valgum	-	OMIM:131300
8820	HESX1	HP:0001522	Death in infancy	HP:0040283	ORPHA:95496
8820	HESX1	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:226307
8820	HESX1	HP:0001533	Slender build	-	OMIM:131300
8820	HESX1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:95496
8820	HESX1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8820	HESX1	HP:0001510	Growth delay	HP:0040282	ORPHA:226307
8820	HESX1	HP:0001510	Growth delay	HP:0040282	ORPHA:95494
8820	HESX1	HP:0001513	Obesity	HP:0040283	ORPHA:478
8820	HESX1	HP:0001513	Obesity	HP:0040283	ORPHA:3157
8820	HESX1	HP:0007807	Optic nerve compression	-	OMIM:131300
8820	HESX1	HP:0031507	Decreased circulating T4 concentration	HP:0040282	ORPHA:226307
8820	HESX1	HP:0012378	Fatigue	HP:0040282	ORPHA:226307
8820	HESX1	HP:0012378	Fatigue	HP:0040282	ORPHA:95494
8820	HESX1	HP:0012378	Fatigue	HP:0040283	ORPHA:3157
8820	HESX1	HP:0012368	Flat face	7/7	OMIM:615777
8820	HESX1	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:226307
8820	HESX1	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
8820	HESX1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8820	HESX1	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:95494
8820	HESX1	HP:0002920	Decreased circulating ACTH concentration	HP:0040283	ORPHA:226307
8820	HESX1	HP:0000365	Hearing impairment	10/67	OMIM:131300
8820	HESX1	HP:0000343	Long philtrum	1/7	OMIM:615777
8820	HESX1	HP:0011001	Increased bone mineral density	-	OMIM:131300
8820	HESX1	HP:0000311	Round face	2/7	OMIM:615777
8820	HESX1	HP:0001662	Bradycardia	HP:0040282	ORPHA:226307
8820	HESX1	HP:0002970	Genu varum	-	OMIM:615777
8820	HESX1	HP:0000303	Mandibular prognathia	-	OMIM:131300
8820	HESX1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:3157
8820	HESX1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:226307
8820	HESX1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
8820	HESX1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:226307
8820	HESX1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8820	HESX1	HP:0000486	Strabismus	HP:0040282	ORPHA:3157
8820	HESX1	HP:0000478	Abnormality of the eye	HP:0040284	ORPHA:95494
8820	HESX1	HP:0000458	Anosmia	HP:0040283	ORPHA:3157
8820	HESX1	HP:0000458	Anosmia	HP:0040281	ORPHA:478
8820	HESX1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:95494
8820	HESX1	HP:0000470	Short neck	HP:0040283	ORPHA:226307
8820	HESX1	HP:0000470	Short neck	1/7	OMIM:615777
8820	HESX1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8820	HESX1	HP:0001763	Pes planus	HP:0040283	ORPHA:478
8820	HESX1	HP:0001763	Pes planus	1/7	OMIM:615777
8820	HESX1	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
8820	HESX1	HP:0011297	Abnormal digit morphology	HP:0040284	ORPHA:95494
8820	HESX1	HP:0001840	Metatarsus adductus	-	OMIM:615777
8820	HESX1	HP:0000520	Proptosis	2/4	OMIM:131300
8820	HESX1	HP:0000520	Proptosis	7/7	OMIM:615777
8820	HESX1	HP:0000508	Ptosis	HP:0040283	ORPHA:478
8820	HESX1	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
8820	HESX1	HP:0000505	Visual impairment	HP:0040281	ORPHA:3157
8820	HESX1	HP:0030344	Decreased circulating luteinizing hormone level	HP:0040283	ORPHA:226307
8820	HESX1	HP:0030341	Decreased circulating follicle stimulating hormone concentration	HP:0040283	ORPHA:226307
8820	HESX1	HP:0000592	Blue sclerae	2/7	OMIM:615777
8820	HESX1	HP:0011220	Prominent forehead	HP:0040283	ORPHA:226307
8820	HESX1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8820	HESX1	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
8820	HESX1	HP:0012514	Lower limb pain	4/4	OMIM:131300
8822	FGF17	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:432
8822	FGF17	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
8822	FGF17	HP:0001250	Seizure	HP:0040283	ORPHA:478
8822	FGF17	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
8822	FGF17	HP:0001251	Ataxia	HP:0040283	ORPHA:478
8822	FGF17	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
8822	FGF17	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:432
8822	FGF17	HP:0008734	Decreased testicular size	1/1	OMIM:146110
8822	FGF17	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
8822	FGF17	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
8822	FGF17	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:432
8822	FGF17	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:432
8822	FGF17	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
8822	FGF17	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
8822	FGF17	HP:0000054	Micropenis	1/1	OMIM:146110
8822	FGF17	HP:0000054	Micropenis	HP:0040281	ORPHA:478
8822	FGF17	HP:0000054	Micropenis	HP:0040281	ORPHA:432
8822	FGF17	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:432
8822	FGF17	HP:0000028	Cryptorchidism	-	OMIM:146110
8822	FGF17	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
8822	FGF17	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:432
8822	FGF17	HP:0000027	Azoospermia	HP:0040281	ORPHA:432
8822	FGF17	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:432
8822	FGF17	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
8822	FGF17	HP:0000013	Hypoplasia of the uterus	HP:0040282	ORPHA:432
8822	FGF17	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
8822	FGF17	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
8822	FGF17	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
8822	FGF17	HP:0001337	Tremor	HP:0040283	ORPHA:478
8822	FGF17	HP:0000006	Autosomal dominant inheritance	-	OMIM:615270
8822	FGF17	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
8822	FGF17	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:432
8822	FGF17	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
8822	FGF17	HP:0000175	Cleft palate	HP:0040283	ORPHA:432
8822	FGF17	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
8822	FGF17	HP:0000135	Hypogonadism	-	OMIM:615270
8822	FGF17	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:432
8822	FGF17	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:432
8822	FGF17	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:432
8822	FGF17	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
8822	FGF17	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
8822	FGF17	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
8822	FGF17	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:432
8822	FGF17	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:432
8822	FGF17	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:432
8822	FGF17	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
8822	FGF17	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
8822	FGF17	HP:0002231	Sparse body hair	HP:0040281	ORPHA:432
8822	FGF17	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
8822	FGF17	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:432
8822	FGF17	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:432
8822	FGF17	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
8822	FGF17	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
8822	FGF17	HP:0003621	Juvenile onset	2/2	OMIM:146110
8822	FGF17	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
8822	FGF17	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
8822	FGF17	HP:0000802	Impotence	HP:0040281	ORPHA:432
8822	FGF17	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
8822	FGF17	HP:0000771	Gynecomastia	HP:0040282	ORPHA:432
8822	FGF17	HP:0000771	Gynecomastia	0/1	OMIM:146110
8822	FGF17	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
8822	FGF17	HP:0000739	Anxiety	HP:0040282	ORPHA:432
8822	FGF17	HP:0000716	Depression	HP:0040282	ORPHA:432
8822	FGF17	HP:0000789	Infertility	HP:0040283	OMIM:146110
8822	FGF17	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:432
8822	FGF17	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
8822	FGF17	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
8822	FGF17	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
8822	FGF17	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
8822	FGF17	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:432
8822	FGF17	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
8822	FGF17	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
8822	FGF17	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:432
8822	FGF17	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
8822	FGF17	HP:0000823	Delayed puberty	HP:0040282	ORPHA:432
8822	FGF17	HP:0000823	Delayed puberty	-	OMIM:615270
8822	FGF17	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
8822	FGF17	HP:0000939	Osteoporosis	HP:0040283	OMIM:615270
8822	FGF17	HP:0000939	Osteoporosis	HP:0040282	ORPHA:432
8822	FGF17	HP:0000938	Osteopenia	2/3	OMIM:615270
8822	FGF17	HP:0000938	Osteopenia	HP:0040282	ORPHA:432
8822	FGF17	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:432
8822	FGF17	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
8822	FGF17	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
8822	FGF17	HP:0030019	Increased female libido	HP:0040281	ORPHA:432
8822	FGF17	HP:0001513	Obesity	HP:0040283	ORPHA:478
8822	FGF17	HP:0012385	Camptodactyly	HP:0040283	ORPHA:432
8822	FGF17	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:432
8822	FGF17	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
8822	FGF17	HP:0000316	Hypertelorism	HP:0040283	ORPHA:432
8822	FGF17	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:432
8822	FGF17	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
8822	FGF17	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:432
8822	FGF17	HP:0000458	Anosmia	2/3	OMIM:615270
8822	FGF17	HP:0000458	Anosmia	HP:0040281	ORPHA:478
8822	FGF17	HP:0001763	Pes planus	HP:0040283	ORPHA:478
8822	FGF17	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
8822	FGF17	HP:0000508	Ptosis	HP:0040283	ORPHA:478
8822	FGF17	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
8822	FGF17	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
8823	FGF16	HP:0001419	X-linked recessive inheritance	-	OMIM:309630
8823	FGF16	HP:0003577	Congenital onset	2/2	OMIM:309630
8823	FGF16	HP:0004209	Clinodactyly of the 5th finger	1/2	OMIM:309630
8823	FGF16	HP:0010047	Short 5th metacarpal	2/2	OMIM:309630
8823	FGF16	HP:0005709	2-3 toe cutaneous syndactyly	1/2	OMIM:309630
8823	FGF16	HP:0005867	4-5 metacarpal synostosis	2/2	OMIM:309630
8828	NRP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
8828	NRP2	HP:0002619	Varicose veins	-	OMIM:153400
8828	NRP2	HP:0000175	Cleft palate	5/39	OMIM:153400
8828	NRP2	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
8828	NRP2	HP:0009743	Distichiasis	42/42	OMIM:153400
8828	NRP2	HP:0001004	Lymphedema	-	OMIM:153400
8828	NRP2	HP:0100658	Cellulitis	2/6	OMIM:153400
8828	NRP2	HP:0000613	Photophobia	10/49	OMIM:153400
8828	NRP2	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
8828	NRP2	HP:0000656	Ectropion	2/43	OMIM:153400
8828	NRP2	HP:0003011	Abnormality of the musculature	-	OMIM:153400
8828	NRP2	HP:0012804	Corneal ulceration	-	OMIM:153400
8828	NRP2	HP:0010310	Chylothorax	1/6	OMIM:153400
8828	NRP2	HP:0011675	Arrhythmia	-	OMIM:153400
8828	NRP2	HP:0002808	Kyphosis	2/5	OMIM:153400
8828	NRP2	HP:0000204	Cleft upper lip	-	OMIM:153400
8828	NRP2	HP:0000347	Micrognathia	2/5	OMIM:153400
8828	NRP2	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
8828	NRP2	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
8828	NRP2	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
8828	NRP2	HP:0000476	Cystic hygroma	2/43	OMIM:153400
8828	NRP2	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
8828	NRP2	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
8828	NRP2	HP:0000465	Webbed neck	6/43	OMIM:153400
8828	NRP2	HP:0000509	Conjunctivitis	-	OMIM:153400
8828	NRP2	HP:0000508	Ptosis	2/39	OMIM:153400
8828	NRP2	HP:0000568	Microphthalmia	1/6	OMIM:153400
8829	NRP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
8829	NRP1	HP:0002619	Varicose veins	-	OMIM:153400
8829	NRP1	HP:0000175	Cleft palate	5/39	OMIM:153400
8829	NRP1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
8829	NRP1	HP:0009743	Distichiasis	42/42	OMIM:153400
8829	NRP1	HP:0001004	Lymphedema	-	OMIM:153400
8829	NRP1	HP:0100658	Cellulitis	2/6	OMIM:153400
8829	NRP1	HP:0000613	Photophobia	10/49	OMIM:153400
8829	NRP1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
8829	NRP1	HP:0000656	Ectropion	2/43	OMIM:153400
8829	NRP1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
8829	NRP1	HP:0012804	Corneal ulceration	-	OMIM:153400
8829	NRP1	HP:0010310	Chylothorax	1/6	OMIM:153400
8829	NRP1	HP:0011675	Arrhythmia	-	OMIM:153400
8829	NRP1	HP:0002808	Kyphosis	2/5	OMIM:153400
8829	NRP1	HP:0000204	Cleft upper lip	-	OMIM:153400
8829	NRP1	HP:0000347	Micrognathia	2/5	OMIM:153400
8829	NRP1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
8829	NRP1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
8829	NRP1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
8829	NRP1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
8829	NRP1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
8829	NRP1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
8829	NRP1	HP:0000465	Webbed neck	6/43	OMIM:153400
8829	NRP1	HP:0000509	Conjunctivitis	-	OMIM:153400
8829	NRP1	HP:0000508	Ptosis	2/39	OMIM:153400
8829	NRP1	HP:0000568	Microphthalmia	1/6	OMIM:153400
8831	SYNGAP1	HP:0001159	Syndactyly	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0002465	Poor speech	HP:0040282	ORPHA:544254
8831	SYNGAP1	HP:0002463	Language impairment	-	OMIM:612621
8831	SYNGAP1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040282	ORPHA:1942
8831	SYNGAP1	HP:0009928	Thick nasal alae	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0007256	Abnormal pyramidal sign	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0020208	Eating-induced seizure	HP:0040282	ORPHA:544254
8831	SYNGAP1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:544254
8831	SYNGAP1	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
8831	SYNGAP1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
8831	SYNGAP1	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0001270	Motor delay	3/3	OMIM:612621
8831	SYNGAP1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:544254
8831	SYNGAP1	HP:0001250	Seizure	4/6	OMIM:612621
8831	SYNGAP1	HP:0001250	Seizure	HP:0040282	ORPHA:442835
8831	SYNGAP1	HP:0001252	Hypotonia	3/3	OMIM:612621
8831	SYNGAP1	HP:0001252	Hypotonia	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0001252	Hypotonia	HP:0040282	ORPHA:544254
8831	SYNGAP1	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0001251	Ataxia	HP:0040283	ORPHA:1942
8831	SYNGAP1	HP:0001251	Ataxia	HP:0040282	ORPHA:544254
8831	SYNGAP1	HP:0001249	Intellectual disability	-	OMIM:612621
8831	SYNGAP1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
8831	SYNGAP1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1942
8831	SYNGAP1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:544254
8831	SYNGAP1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
8831	SYNGAP1	HP:0001263	Global developmental delay	3/3	OMIM:612621
8831	SYNGAP1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
8831	SYNGAP1	HP:0001263	Global developmental delay	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:544254
8831	SYNGAP1	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0008770	Obsessive-compulsive trait	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:1942
8831	SYNGAP1	HP:0100851	Abnormal emotional state	HP:0040283	ORPHA:1942
8831	SYNGAP1	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
8831	SYNGAP1	HP:0000047	Hypospadias	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0001326	EEG with irregular generalized spike and wave complexes	HP:0040283	ORPHA:1942
8831	SYNGAP1	HP:0001344	Absent speech	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0001337	Tremor	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0001337	Tremor	HP:0040283	ORPHA:1942
8831	SYNGAP1	HP:0001337	Tremor	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:612621
8831	SYNGAP1	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0000179	Thick lower lip vermilion	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0000154	Wide mouth	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0000154	Wide mouth	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0005988	Congenital muscular torticollis	1/3	OMIM:612621
8831	SYNGAP1	HP:0002069	Bilateral tonic-clonic seizure	1/3	OMIM:612621
8831	SYNGAP1	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:1942
8831	SYNGAP1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:1942
8831	SYNGAP1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
8831	SYNGAP1	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:544254
8831	SYNGAP1	HP:0003593	Infantile onset	3/3	OMIM:612621
8831	SYNGAP1	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0200134	Epileptic encephalopathy	-	OMIM:612621
8831	SYNGAP1	HP:0200134	Epileptic encephalopathy	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0100738	Abnormal eating behavior	HP:0040282	ORPHA:544254
8831	SYNGAP1	HP:0002292	Frontal balding	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:1942
8831	SYNGAP1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0002392	EEG with polyspike wave complexes	HP:0040282	ORPHA:1942
8831	SYNGAP1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:544254
8831	SYNGAP1	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
8831	SYNGAP1	HP:0002376	Developmental regression	HP:0040282	ORPHA:544254
8831	SYNGAP1	HP:0002376	Developmental regression	-	OMIM:612621
8831	SYNGAP1	HP:0002370	Poor coordination	HP:0040282	ORPHA:544254
8831	SYNGAP1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:544254
8831	SYNGAP1	HP:0002342	Intellectual disability, moderate	6/6	OMIM:612621
8831	SYNGAP1	HP:0002353	EEG abnormality	-	OMIM:612621
8831	SYNGAP1	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0002317	Unsteady gait	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0002332	Lack of peer relationships	HP:0040282	ORPHA:1942
8831	SYNGAP1	HP:0010845	EEG with generalized slow activity	HP:0040283	ORPHA:1942
8831	SYNGAP1	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
8831	SYNGAP1	HP:0010832	Abnormality of pain sensation	HP:0040281	ORPHA:544254
8831	SYNGAP1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0010819	Atonic seizure	HP:0040282	ORPHA:1942
8831	SYNGAP1	HP:0100678	Premature skin wrinkling	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0002307	Drooling	1/3	OMIM:612621
8831	SYNGAP1	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
8831	SYNGAP1	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:544254
8831	SYNGAP1	HP:0004322	Short stature	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0000752	Hyperactivity	HP:0040282	ORPHA:1942
8831	SYNGAP1	HP:0100023	Recurrent hand flapping	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
8831	SYNGAP1	HP:0000750	Delayed speech and language development	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:544254
8831	SYNGAP1	HP:0012703	Abnormal subarachnoid space morphology	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0000717	Autism	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1942
8831	SYNGAP1	HP:0000729	Autistic behavior	1/3	OMIM:612621
8831	SYNGAP1	HP:0000729	Autistic behavior	HP:0040282	ORPHA:544254
8831	SYNGAP1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:544254
8831	SYNGAP1	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
8831	SYNGAP1	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:1942
8831	SYNGAP1	HP:0040080	Anteverted ears	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0030810	Abnormal tongue physiology	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0100259	Postaxial polydactyly	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0000289	Broad philtrum	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0000276	Long face	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0000252	Microcephaly	1/3	OMIM:612621
8831	SYNGAP1	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0000252	Microcephaly	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0000252	Microcephaly	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0000219	Thin upper lip vermilion	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0000218	High palate	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
8831	SYNGAP1	HP:0011097	Epileptic spasm	-	ORPHA:1942
8831	SYNGAP1	HP:0000343	Long philtrum	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0000348	High forehead	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0000325	Triangular face	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0011197	EEG with focal spike waves	HP:0040281	ORPHA:1942
8831	SYNGAP1	HP:0011182	Interictal epileptiform activity	HP:0040283	ORPHA:1942
8831	SYNGAP1	HP:0011171	Simple febrile seizure	HP:0040283	ORPHA:1942
8831	SYNGAP1	HP:0011170	Generalized myoclonic-atonic seizure	HP:0040281	ORPHA:1942
8831	SYNGAP1	HP:0011150	Myoclonic absence seizure	1/3	OMIM:612621
8831	SYNGAP1	HP:0011150	Myoclonic absence seizure	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0000400	Macrotia	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0000486	Strabismus	1/3	OMIM:612621
8831	SYNGAP1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0000490	Deeply set eye	HP:0040283	ORPHA:544254
8831	SYNGAP1	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0012444	Brain atrophy	1/3	OMIM:612621
8831	SYNGAP1	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0000473	Torticollis	1/3	OMIM:612621
8831	SYNGAP1	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
8831	SYNGAP1	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
8831	SYNGAP1	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
8831	SYNGAP1	HP:0011220	Prominent forehead	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0000568	Microphthalmia	HP:0040284	ORPHA:1942
8831	SYNGAP1	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
8838	CCN6	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8838	CCN6	HP:0001293	Cranial nerve compression	-	OMIM:131300
8838	CCN6	HP:0001288	Gait disturbance	-	OMIM:208230
8838	CCN6	HP:0001252	Hypotonia	2/7	OMIM:615777
8838	CCN6	HP:0001249	Intellectual disability	5/7	OMIM:615777
8838	CCN6	HP:0001263	Global developmental delay	-	OMIM:615777
8838	CCN6	HP:0001225	Wrist swelling	HP:0040282	ORPHA:1159
8838	CCN6	HP:0100864	Short femoral neck	HP:0040283	ORPHA:1159
8838	CCN6	HP:0002515	Waddling gait	-	OMIM:208230
8838	CCN6	HP:0002515	Waddling gait	54/102	OMIM:131300
8838	CCN6	HP:0002515	Waddling gait	HP:0040281	ORPHA:1159
8838	CCN6	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:1159
8838	CCN6	HP:0001386	Joint swelling	-	OMIM:208230
8838	CCN6	HP:0001386	Joint swelling	HP:0040281	ORPHA:1159
8838	CCN6	HP:0001387	Joint stiffness	-	OMIM:208230
8838	CCN6	HP:0001382	Joint hypermobility	-	OMIM:615777
8838	CCN6	HP:0001384	Abnormal hip joint morphology	HP:0040282	ORPHA:1159
8838	CCN6	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8838	CCN6	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8838	CCN6	HP:0008833	Irregular acetabular roof	HP:0040283	ORPHA:1159
8838	CCN6	HP:0006163	Enlarged metacarpophalangeal joints	-	OMIM:208230
8838	CCN6	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8838	CCN6	HP:0001324	Muscle weakness	-	OMIM:208230
8838	CCN6	HP:0001324	Muscle weakness	40/96	OMIM:131300
8838	CCN6	HP:0001324	Muscle weakness	HP:0040282	ORPHA:1159
8838	CCN6	HP:0002655	Spondyloepiphyseal dysplasia	HP:0040281	ORPHA:1159
8838	CCN6	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8838	CCN6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8838	CCN6	HP:0000007	Autosomal recessive inheritance	-	OMIM:208230
8838	CCN6	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8838	CCN6	HP:0002650	Scoliosis	12/14	OMIM:131300
8838	CCN6	HP:0002650	Scoliosis	HP:0040282	ORPHA:1159
8838	CCN6	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8838	CCN6	HP:0032436	Abnormal circulating C-reactive protein concentration	-	ORPHA:1159
8838	CCN6	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8838	CCN6	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8838	CCN6	HP:0025477	Periarticular calcification	HP:0040283	ORPHA:1159
8838	CCN6	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8838	CCN6	HP:0000175	Cleft palate	2/7	OMIM:615777
8838	CCN6	HP:0006256	Abnormality of hand joint mobility	HP:0040282	ORPHA:1159
8838	CCN6	HP:0006247	Enlarged interphalangeal joints	HP:0040283	ORPHA:1159
8838	CCN6	HP:0006247	Enlarged interphalangeal joints	-	OMIM:208230
8838	CCN6	HP:0002758	Osteoarthritis	-	OMIM:208230
8838	CCN6	HP:0002751	Kyphoscoliosis	-	OMIM:208230
8838	CCN6	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:1159
8838	CCN6	HP:0004637	Decreased cervical spine mobility	-	OMIM:208230
8838	CCN6	HP:0003301	Irregular vertebral endplates	HP:0040281	ORPHA:1159
8838	CCN6	HP:0003370	Flat capital femoral epiphysis	HP:0040283	ORPHA:1159
8838	CCN6	HP:0003371	Enlargement of the proximal femoral epiphysis	HP:0040283	ORPHA:1159
8838	CCN6	HP:0003371	Enlargement of the proximal femoral epiphysis	-	OMIM:208230
8838	CCN6	HP:0003388	Easy fatigability	HP:0040282	ORPHA:1159
8838	CCN6	HP:0003388	Easy fatigability	36/76	OMIM:131300
8838	CCN6	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8838	CCN6	HP:0004603	Hyperconvex vertebral body endplates	HP:0040282	ORPHA:1159
8838	CCN6	HP:0009473	Joint contracture of the hand	-	OMIM:208230
8838	CCN6	HP:0009473	Joint contracture of the hand	HP:0040282	ORPHA:1159
8838	CCN6	HP:0003423	Thoracolumbar kyphoscoliosis	HP:0040282	ORPHA:1159
8838	CCN6	HP:0100490	Camptodactyly of finger	-	OMIM:208230
8838	CCN6	HP:0010580	Enlarged epiphyses	HP:0040283	ORPHA:1159
8838	CCN6	HP:0010580	Enlarged epiphyses	-	OMIM:208230
8838	CCN6	HP:0003510	Severe short stature	7/7	OMIM:615777
8838	CCN6	HP:0025021	Abnormal erythrocyte sedimentation rate	-	ORPHA:1159
8838	CCN6	HP:0002315	Headache	-	OMIM:131300
8838	CCN6	HP:0004976	Knee dislocation	6/7	OMIM:615777
8838	CCN6	HP:0009811	Abnormality of the elbow	HP:0040282	ORPHA:1159
8838	CCN6	HP:0009803	Short phalanx of finger	-	OMIM:615777
8838	CCN6	HP:0009763	Limb pain	63/92	OMIM:131300
8838	CCN6	HP:0008422	Vertebral wedging	HP:0040282	ORPHA:1159
8838	CCN6	HP:0003621	Juvenile onset	-	OMIM:131300
8838	CCN6	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8838	CCN6	HP:0004267	Narrow small joints of the hand	HP:0040281	ORPHA:1159
8838	CCN6	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8838	CCN6	HP:6001056	Out-toeing	-	OMIM:131300
8838	CCN6	HP:0000651	Diplopia	-	OMIM:131300
8838	CCN6	HP:0001956	Truncal obesity	2/7	OMIM:615777
8838	CCN6	HP:0001903	Anemia	HP:0040283	OMIM:131300
8838	CCN6	HP:0010049	Short metacarpal	-	OMIM:615777
8838	CCN6	HP:0000678	Dental crowding	-	OMIM:615777
8838	CCN6	HP:0000670	Carious teeth	-	OMIM:131300
8838	CCN6	HP:0011304	Broad thumb	2/7	OMIM:615777
8838	CCN6	HP:0000668	Hypodontia	-	OMIM:615777
8838	CCN6	HP:0000664	Synophrys	-	OMIM:615777
8838	CCN6	HP:0004322	Short stature	HP:0040282	ORPHA:1159
8838	CCN6	HP:0003071	Flattened epiphysis	-	OMIM:208230
8838	CCN6	HP:0004396	Poor appetite	-	OMIM:131300
8838	CCN6	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8838	CCN6	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8838	CCN6	HP:0003043	Abnormal shoulder morphology	HP:0040283	ORPHA:1159
8838	CCN6	HP:0003040	Arthropathy	-	OMIM:208230
8838	CCN6	HP:0003016	Metaphyseal widening	-	OMIM:208230
8838	CCN6	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8838	CCN6	HP:0003026	Short long bone	7/7	OMIM:615777
8838	CCN6	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8838	CCN6	HP:0011406	Infancy onset short-trunk short stature	HP:0040282	ORPHA:1159
8838	CCN6	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8838	CCN6	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8838	CCN6	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8838	CCN6	HP:0000750	Delayed speech and language development	-	OMIM:615777
8838	CCN6	HP:0011461	Fetal onset	7/7	OMIM:615777
8838	CCN6	HP:0000774	Narrow chest	2/7	OMIM:615777
8838	CCN6	HP:0000926	Platyspondyly	-	OMIM:208230
8838	CCN6	HP:0000926	Platyspondyly	HP:0040281	ORPHA:1159
8838	CCN6	HP:0000926	Platyspondyly	1/7	OMIM:615777
8838	CCN6	HP:0003180	Flat acetabular roof	-	OMIM:615777
8838	CCN6	HP:0004482	Relative macrocephaly	-	OMIM:615777
8838	CCN6	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8838	CCN6	HP:0000823	Delayed puberty	-	OMIM:131300
8838	CCN6	HP:0000894	Short clavicles	-	OMIM:615777
8838	CCN6	HP:0004576	Sclerotic vertebral endplates	-	OMIM:208230
8838	CCN6	HP:0004568	Beaking of vertebral bodies	HP:0040283	ORPHA:1159
8838	CCN6	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8838	CCN6	HP:0004582	Irregularity of vertebral bodies	HP:0040282	ORPHA:1159
8838	CCN6	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8838	CCN6	HP:0000939	Osteoporosis	-	OMIM:208230
8838	CCN6	HP:0040160	Generalized osteoporosis	HP:0040283	ORPHA:1159
8838	CCN6	HP:0000286	Epicanthus	1/7	OMIM:615777
8838	CCN6	HP:0000280	Coarse facial features	2/7	OMIM:615777
8838	CCN6	HP:0006429	Broad femoral neck	HP:0040283	ORPHA:1159
8838	CCN6	HP:0002815	Abnormality of the knee	HP:0040282	ORPHA:1159
8838	CCN6	HP:0002812	Coxa vara	-	OMIM:208230
8838	CCN6	HP:0002812	Coxa vara	HP:0040283	ORPHA:1159
8838	CCN6	HP:0002829	Arthralgia	HP:0040282	ORPHA:1159
8838	CCN6	HP:0002827	Hip dislocation	3/7	OMIM:615777
8838	CCN6	HP:0000252	Microcephaly	-	OMIM:615777
8838	CCN6	HP:0002857	Genu valgum	-	OMIM:131300
8838	CCN6	HP:0002857	Genu valgum	HP:0040283	ORPHA:1159
8838	CCN6	HP:0002867	Abnormal ilium morphology	HP:0040283	ORPHA:1159
8838	CCN6	HP:0001533	Slender build	-	OMIM:131300
8838	CCN6	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8838	CCN6	HP:0007807	Optic nerve compression	-	OMIM:131300
8838	CCN6	HP:0012385	Camptodactyly	HP:0040282	ORPHA:1159
8838	CCN6	HP:0012368	Flat face	7/7	OMIM:615777
8838	CCN6	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8838	CCN6	HP:0005195	Polyarticular arthropathy	HP:0040281	ORPHA:1159
8838	CCN6	HP:0002923	Rheumatoid factor positive	-	ORPHA:1159
8838	CCN6	HP:0000365	Hearing impairment	10/67	OMIM:131300
8838	CCN6	HP:0000343	Long philtrum	1/7	OMIM:615777
8838	CCN6	HP:0011001	Increased bone mineral density	-	OMIM:131300
8838	CCN6	HP:0000311	Round face	2/7	OMIM:615777
8838	CCN6	HP:0002970	Genu varum	-	OMIM:208230
8838	CCN6	HP:0002970	Genu varum	HP:0040283	ORPHA:1159
8838	CCN6	HP:0002970	Genu varum	-	OMIM:615777
8838	CCN6	HP:0000303	Mandibular prognathia	-	OMIM:131300
8838	CCN6	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8838	CCN6	HP:0000464	Abnormality of the neck	HP:0040283	ORPHA:1159
8838	CCN6	HP:0000470	Short neck	1/7	OMIM:615777
8838	CCN6	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8838	CCN6	HP:0001763	Pes planus	1/7	OMIM:615777
8838	CCN6	HP:0001760	Abnormal foot morphology	-	OMIM:208230
8838	CCN6	HP:0001840	Metatarsus adductus	-	OMIM:615777
8838	CCN6	HP:0000520	Proptosis	2/4	OMIM:131300
8838	CCN6	HP:0000520	Proptosis	7/7	OMIM:615777
8838	CCN6	HP:0000592	Blue sclerae	2/7	OMIM:615777
8838	CCN6	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8838	CCN6	HP:0012514	Lower limb pain	4/4	OMIM:131300
8842	PROM1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
8842	PROM1	HP:0001141	Severely reduced visual acuity	16/16	OMIM:612095
8842	PROM1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
8842	PROM1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
8842	PROM1	HP:0012045	Retinal flecks	-	OMIM:603786
8842	PROM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612095
8842	PROM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
8842	PROM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612657
8842	PROM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:608051
8842	PROM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
8842	PROM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:603786
8842	PROM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:612657
8842	PROM1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
8842	PROM1	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
8842	PROM1	HP:0007663	Reduced visual acuity	HP:0040280	ORPHA:827
8842	PROM1	HP:0007663	Reduced visual acuity	-	OMIM:612657
8842	PROM1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
8842	PROM1	HP:0007663	Reduced visual acuity	-	OMIM:603786
8842	PROM1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
8842	PROM1	HP:0007663	Reduced visual acuity	-	OMIM:608051
8842	PROM1	HP:0007641	Dyschromatopsia	-	OMIM:608051
8842	PROM1	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
8842	PROM1	HP:0008323	Abnormal light- and dark-adapted electroretinogram	-	OMIM:612657
8842	PROM1	HP:0003621	Juvenile onset	8/19	OMIM:180100
8842	PROM1	HP:0030500	Yellow/white lesions of the macula	HP:0040282	ORPHA:827
8842	PROM1	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
8842	PROM1	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
8842	PROM1	HP:0000639	Nystagmus	5/6	OMIM:612095
8842	PROM1	HP:0000649	Abnormality of visual evoked potentials	HP:0040281	ORPHA:827
8842	PROM1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
8842	PROM1	HP:0000618	Blindness	HP:0040281	ORPHA:791
8842	PROM1	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
8842	PROM1	HP:0000613	Photophobia	HP:0040281	ORPHA:791
8842	PROM1	HP:0000610	Abnormal choroid morphology	HP:0040281	ORPHA:827
8842	PROM1	HP:0000608	Macular degeneration	HP:0040281	ORPHA:827
8842	PROM1	HP:0000608	Macular degeneration	6/6	OMIM:612095
8842	PROM1	HP:0000608	Macular degeneration	-	OMIM:603786
8842	PROM1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
8842	PROM1	HP:0000603	Central scotoma	-	OMIM:608051
8842	PROM1	HP:0000603	Central scotoma	HP:0040281	ORPHA:827
8842	PROM1	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
8842	PROM1	HP:0000603	Central scotoma	-	OMIM:612657
8842	PROM1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
8842	PROM1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
8842	PROM1	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
8842	PROM1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
8842	PROM1	HP:0000662	Nyctalopia	HP:0040281	ORPHA:827
8842	PROM1	HP:0000662	Nyctalopia	-	OMIM:612095
8842	PROM1	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
8842	PROM1	HP:0000662	Nyctalopia	-	OMIM:612657
8842	PROM1	HP:0000662	Nyctalopia	26/28	OMIM:180100
8842	PROM1	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
8842	PROM1	HP:0030629	Perifoveal ring of hyperautofluorescence	-	OMIM:608051
8842	PROM1	HP:0011463	Childhood onset	3/19	OMIM:180100
8842	PROM1	HP:0011463	Childhood onset	5/5	OMIM:612095
8842	PROM1	HP:0011462	Young adult onset	8/19	OMIM:180100
8842	PROM1	HP:0030786	Photopsia	HP:0040282	ORPHA:827
8842	PROM1	HP:0030786	Photopsia	HP:0040283	ORPHA:791
8842	PROM1	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
8842	PROM1	HP:0011504	Bull's eye maculopathy	-	OMIM:612657
8842	PROM1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
8842	PROM1	HP:0008002	Abnormality of macular pigmentation	HP:0040281	ORPHA:827
8842	PROM1	HP:0008059	Aplasia/Hypoplasia of the macula	HP:0040282	ORPHA:827
8842	PROM1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
8842	PROM1	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:608051
8842	PROM1	HP:0007722	Retinal pigment epithelial atrophy	HP:0040281	ORPHA:827
8842	PROM1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
8842	PROM1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
8842	PROM1	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:827
8842	PROM1	HP:0007793	Granular macular appearance	-	OMIM:608051
8842	PROM1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
8842	PROM1	HP:0007754	Macular dystrophy	-	OMIM:608051
8842	PROM1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
8842	PROM1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
8842	PROM1	HP:0007737	Bone spicule pigmentation of the retina	6/6	OMIM:612095
8842	PROM1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
8842	PROM1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
8842	PROM1	HP:0007843	Attenuation of retinal blood vessels	16/16	OMIM:612095
8842	PROM1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
8842	PROM1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
8842	PROM1	HP:0007814	Retinal pigment epithelial mottling	HP:0040281	ORPHA:827
8842	PROM1	HP:0030329	Retinal thinning	HP:0040281	ORPHA:827
8842	PROM1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
8842	PROM1	HP:0007994	Peripheral visual field loss	-	OMIM:612095
8842	PROM1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
8842	PROM1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
8842	PROM1	HP:0000493	Abnormal foveal morphology	HP:0040281	ORPHA:827
8842	PROM1	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
8842	PROM1	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
8842	PROM1	HP:0000510	Rod-cone dystrophy	-	OMIM:612095
8842	PROM1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
8842	PROM1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
8842	PROM1	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
8842	PROM1	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
8842	PROM1	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
8842	PROM1	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
8842	PROM1	HP:0000580	Pigmentary retinopathy	-	OMIM:612095
8842	PROM1	HP:0000575	Scotoma	5/18	OMIM:180100
8842	PROM1	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
8842	PROM1	HP:0000550	Undetectable electroretinogram	-	OMIM:612095
8842	PROM1	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
8842	PROM1	HP:0000551	Color vision defect	HP:0040281	ORPHA:827
8842	PROM1	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
8842	PROM1	HP:0000551	Color vision defect	-	OMIM:612657
8842	PROM1	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
8842	PROM1	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:612657
8842	PROM1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
8842	PROM1	HP:0000543	Optic disc pallor	16/16	OMIM:612095
8842	PROM1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
8842	PROM1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
8842	PROM1	HP:0000545	Myopia	-	OMIM:180100
8854	ALDH1A2	HP:0006101	Finger syndactyly	1/3	OMIM:620025
8854	ALDH1A2	HP:0000028	Cryptorchidism	1/3	OMIM:620025
8854	ALDH1A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620025
8854	ALDH1A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
8854	ALDH1A2	HP:0002643	Neonatal respiratory distress	1/3	OMIM:620025
8854	ALDH1A2	HP:0002616	Aortic root aneurysm	1/3	OMIM:620025
8854	ALDH1A2	HP:0002719	Recurrent infections	1/3	OMIM:620025
8854	ALDH1A2	HP:0004691	2-3 toe syndactyly	1/3	OMIM:620025
8854	ALDH1A2	HP:0002089	Pulmonary hypoplasia	3/3	OMIM:620025
8854	ALDH1A2	HP:0002092	Pulmonary arterial hypertension	1/3	OMIM:620025
8854	ALDH1A2	HP:0003417	Coronal cleft vertebrae	1/3	OMIM:620025
8854	ALDH1A2	HP:0002240	Hepatomegaly	1/3	OMIM:620025
8854	ALDH1A2	HP:0004971	Pulmonary artery hypoplasia	1/3	OMIM:620025
8854	ALDH1A2	HP:0031834	Aortopulmonary collateral arteries	1/3	OMIM:620025
8854	ALDH1A2	HP:0004209	Clinodactyly of the 5th finger	1/3	OMIM:620025
8854	ALDH1A2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
8854	ALDH1A2	HP:0000609	Optic nerve hypoplasia	1/3	OMIM:620025
8854	ALDH1A2	HP:0030674	Antenatal onset	3/3	OMIM:620025
8854	ALDH1A2	HP:0009110	Diaphragmatic eventration	2/3	OMIM:620025
8854	ALDH1A2	HP:0009112	Aplasia of the left hemidiaphragm	1/3	OMIM:620025
8854	ALDH1A2	HP:0004467	Preauricular pit	-	OMIM:187500
8854	ALDH1A2	HP:0000878	11 pairs of ribs	1/3	OMIM:620025
8854	ALDH1A2	HP:0011604	Aortopulmonary window	1/3	OMIM:620025
8854	ALDH1A2	HP:0000256	Macrocephaly	1/3	OMIM:620025
8854	ALDH1A2	HP:0001561	Polyhydramnios	2/3	OMIM:620025
8854	ALDH1A2	HP:0000369	Low-set ears	1/3	OMIM:620025
8854	ALDH1A2	HP:0000337	Broad forehead	-	OMIM:187500
8854	ALDH1A2	HP:0000347	Micrognathia	2/3	OMIM:620025
8854	ALDH1A2	HP:0000331	Short chin	1/3	OMIM:620025
8854	ALDH1A2	HP:0001629	Ventricular septal defect	1/3	OMIM:620025
8854	ALDH1A2	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
8854	ALDH1A2	HP:0000494	Downslanted palpebral fissures	1/3	OMIM:620025
8854	ALDH1A2	HP:0000465	Webbed neck	1/3	OMIM:620025
8854	ALDH1A2	HP:0000414	Bulbous nose	1/3	OMIM:620025
8854	ALDH1A2	HP:0001762	Talipes equinovarus	1/3	OMIM:620025
8854	ALDH1A2	HP:0000520	Proptosis	-	OMIM:187500
8863	PER3	HP:0000006	Autosomal dominant inheritance	-	OMIM:616882
8863	PER3	HP:0031873	Early chronotype	3/3	OMIM:616882
8863	PER3	HP:0000716	Depression	3/3	OMIM:616882
8864	PER2	HP:0000006	Autosomal dominant inheritance	-	OMIM:604348
8864	PER2	HP:0031873	Early chronotype	-	OMIM:604348
8864	PER2	HP:0006979	Sleep-wake cycle disturbance	HP:0040281	OMIM:604348
8864	PER2	HP:0000716	Depression	-	OMIM:604348
8867	SYNJ1	HP:0007311	Short stepped shuffling gait	HP:0040282	ORPHA:391411
8867	SYNJ1	HP:0007311	Short stepped shuffling gait	2/2	OMIM:615530
8867	SYNJ1	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:391411
8867	SYNJ1	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0002425	Anarthria	HP:0040283	ORPHA:391411
8867	SYNJ1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
8867	SYNJ1	HP:0025269	Panic attack	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
8867	SYNJ1	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0001268	Mental deterioration	1/2	OMIM:615530
8867	SYNJ1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0001288	Gait disturbance	1/2	OMIM:615530
8867	SYNJ1	HP:0001250	Seizure	HP:0040282	ORPHA:391411
8867	SYNJ1	HP:0001250	Seizure	HP:0040282	ORPHA:442835
8867	SYNJ1	HP:0001250	Seizure	7/7	OMIM:617389
8867	SYNJ1	HP:0001252	Hypotonia	6/7	OMIM:617389
8867	SYNJ1	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:391411
8867	SYNJ1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
8867	SYNJ1	HP:0002578	Gastroparesis	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
8867	SYNJ1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:391411
8867	SYNJ1	HP:0001260	Dysarthria	2/2	OMIM:615530
8867	SYNJ1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
8867	SYNJ1	HP:0001263	Global developmental delay	2/2	OMIM:617389
8867	SYNJ1	HP:0001257	Spasticity	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0002540	Inability to walk	HP:0040281	ORPHA:391411
8867	SYNJ1	HP:0002521	Hypsarrhythmia	3/7	OMIM:617389
8867	SYNJ1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0002510	Spastic tetraplegia	5/7	OMIM:617389
8867	SYNJ1	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
8867	SYNJ1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0001332	Dystonia	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0001332	Dystonia	2/6	OMIM:617389
8867	SYNJ1	HP:0001332	Dystonia	HP:0040281	ORPHA:391411
8867	SYNJ1	HP:0001332	Dystonia	2/2	OMIM:615530
8867	SYNJ1	HP:0033725	Thin corpus callosum	1/7	OMIM:617389
8867	SYNJ1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617389
8867	SYNJ1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615530
8867	SYNJ1	HP:0001337	Tremor	HP:0040282	ORPHA:2828
8867	SYNJ1	HP:0001337	Tremor	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0001337	Tremor	1/2	OMIM:615530
8867	SYNJ1	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0001336	Myoclonus	HP:0040283	ORPHA:391411
8867	SYNJ1	HP:0002650	Scoliosis	HP:0040282	ORPHA:391411
8867	SYNJ1	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0001300	Parkinsonism	2/2	OMIM:615530
8867	SYNJ1	HP:0008969	Leg muscle stiffness	HP:0040282	ORPHA:391411
8867	SYNJ1	HP:0008969	Leg muscle stiffness	1/2	OMIM:615530
8867	SYNJ1	HP:0025403	Stooped posture	2/2	OMIM:615530
8867	SYNJ1	HP:0025401	Staring gaze	2/2	OMIM:615530
8867	SYNJ1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0002018	Nausea	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0002019	Constipation	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0040307	Male sexual dysfunction	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0002014	Diarrhea	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0002015	Dysphagia	2/2	OMIM:615530
8867	SYNJ1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0002069	Bilateral tonic-clonic seizure	4/7	OMIM:617389
8867	SYNJ1	HP:0002067	Bradykinesia	2/2	OMIM:615530
8867	SYNJ1	HP:0002067	Bradykinesia	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0002067	Bradykinesia	HP:0040281	ORPHA:391411
8867	SYNJ1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:391411
8867	SYNJ1	HP:0003394	Muscle spasm	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0002063	Rigidity	1/2	OMIM:615530
8867	SYNJ1	HP:0002063	Rigidity	HP:0040281	ORPHA:2828
8867	SYNJ1	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0002063	Rigidity	HP:0040281	ORPHA:391411
8867	SYNJ1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0002141	Gait imbalance	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0002151	Increased circulating lactate concentration	-	OMIM:617389
8867	SYNJ1	HP:0002120	Cerebral cortical atrophy	2/2	OMIM:615530
8867	SYNJ1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
8867	SYNJ1	HP:0002187	Intellectual disability, profound	7/7	OMIM:617389
8867	SYNJ1	HP:0002172	Postural instability	-	OMIM:615530
8867	SYNJ1	HP:0002172	Postural instability	HP:0040282	ORPHA:2828
8867	SYNJ1	HP:0002172	Postural instability	HP:0040281	ORPHA:391411
8867	SYNJ1	HP:0003593	Infantile onset	2/7	OMIM:617389
8867	SYNJ1	HP:0100710	Impulsivity	HP:0040284	ORPHA:2828
8867	SYNJ1	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0100785	Insomnia	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0200134	Epileptic encephalopathy	7/7	OMIM:617389
8867	SYNJ1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0011968	Feeding difficulties	7/7	OMIM:617389
8867	SYNJ1	HP:0002362	Shuffling gait	-	OMIM:615530
8867	SYNJ1	HP:0002362	Shuffling gait	HP:0040283	ORPHA:391411
8867	SYNJ1	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
8867	SYNJ1	HP:0002344	Progressive neurologic deterioration	7/7	OMIM:617389
8867	SYNJ1	HP:0003676	Progressive	-	OMIM:615530
8867	SYNJ1	HP:0002322	Resting tremor	HP:0040281	ORPHA:391411
8867	SYNJ1	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
8867	SYNJ1	HP:0100660	Dyskinesia	HP:0040282	ORPHA:2828
8867	SYNJ1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0007164	Slowed slurred speech	HP:0040281	ORPHA:391411
8867	SYNJ1	HP:0003623	Neonatal onset	5/7	OMIM:617389
8867	SYNJ1	HP:0002304	Akinesia	HP:0040282	ORPHA:391411
8867	SYNJ1	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0000651	Diplopia	HP:0040284	ORPHA:2828
8867	SYNJ1	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
8867	SYNJ1	HP:0000605	Supranuclear gaze palsy	1/2	OMIM:615530
8867	SYNJ1	HP:0000658	Eyelid apraxia	1/2	OMIM:615530
8867	SYNJ1	HP:0012638	Abnormal nervous system physiology	HP:0040282	ORPHA:391411
8867	SYNJ1	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0004322	Short stature	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0004305	Involuntary movements	HP:0040282	ORPHA:391411
8867	SYNJ1	HP:0004305	Involuntary movements	2/2	OMIM:615530
8867	SYNJ1	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:391411
8867	SYNJ1	HP:0000738	Hallucinations	HP:0040282	ORPHA:2828
8867	SYNJ1	HP:0000739	Anxiety	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0000736	Short attention span	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
8867	SYNJ1	HP:0000741	Apathy	HP:0040282	ORPHA:2828
8867	SYNJ1	HP:0000716	Depression	HP:0040282	ORPHA:2828
8867	SYNJ1	HP:0000717	Autism	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0000713	Agitation	HP:0040284	ORPHA:2828
8867	SYNJ1	HP:0000727	Frontal lobe dementia	HP:0040284	ORPHA:2828
8867	SYNJ1	HP:0000726	Dementia	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
8867	SYNJ1	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0004409	Hyposmia	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:617389
8867	SYNJ1	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0032660	Convulsive status epilepticus	1/7	OMIM:617389
8867	SYNJ1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0030014	Female sexual dysfunction	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
8867	SYNJ1	HP:0011097	Epileptic spasm	2/7	OMIM:617389
8867	SYNJ1	HP:0012378	Fatigue	1/2	OMIM:615530
8867	SYNJ1	HP:0012378	Fatigue	HP:0040282	ORPHA:391411
8867	SYNJ1	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0000338	Hypomimic face	HP:0040281	ORPHA:391411
8867	SYNJ1	HP:0032792	Tonic seizure	4/7	OMIM:617389
8867	SYNJ1	HP:0000348	High forehead	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0032794	Myoclonic seizure	6/7	OMIM:617389
8867	SYNJ1	HP:0001621	Weak voice	HP:0040282	ORPHA:391411
8867	SYNJ1	HP:0001621	Weak voice	1/2	OMIM:615530
8867	SYNJ1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0012444	Brain atrophy	HP:0040282	ORPHA:391411
8867	SYNJ1	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0012452	Restless legs	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0025710	Late young adult onset	1/2	OMIM:615530
8867	SYNJ1	HP:0001761	Pes cavus	HP:0040282	ORPHA:391411
8867	SYNJ1	HP:0025709	Intermediate young adult onset	1/2	OMIM:615530
8867	SYNJ1	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
8867	SYNJ1	HP:0000505	Visual impairment	3/7	OMIM:617389
8867	SYNJ1	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
8867	SYNJ1	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
8867	SYNJ1	HP:0000551	Color vision defect	HP:0040283	ORPHA:2828
8867	SYNJ1	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
8869	ST3GAL5	HP:0001252	Hypotonia	8/8	OMIM:609056
8869	ST3GAL5	HP:0001266	Choreoathetosis	-	OMIM:609056
8869	ST3GAL5	HP:0001263	Global developmental delay	8/8	OMIM:609056
8869	ST3GAL5	HP:0008872	Feeding difficulties in infancy	6/8	OMIM:609056
8869	ST3GAL5	HP:0001344	Absent speech	-	OMIM:609056
8869	ST3GAL5	HP:0000007	Autosomal recessive inheritance	-	OMIM:609056
8869	ST3GAL5	HP:0001336	Myoclonus	-	OMIM:609056
8869	ST3GAL5	HP:0002013	Vomiting	8/8	OMIM:609056
8869	ST3GAL5	HP:0002069	Bilateral tonic-clonic seizure	8/8	OMIM:609056
8869	ST3GAL5	HP:0002133	Status epilepticus	-	OMIM:609056
8869	ST3GAL5	HP:0003593	Infantile onset	-	OMIM:609056
8869	ST3GAL5	HP:0100704	Cerebral visual impairment	-	OMIM:609056
8869	ST3GAL5	HP:0002283	Global brain atrophy	8/8	OMIM:609056
8869	ST3GAL5	HP:0002395	Lower limb hyperreflexia	-	OMIM:609056
8869	ST3GAL5	HP:0001034	Hypermelanotic macule	-	OMIM:609056
8869	ST3GAL5	HP:0002376	Developmental regression	8/8	OMIM:609056
8869	ST3GAL5	HP:0010841	Multifocal epileptiform discharges	8/8	OMIM:609056
8869	ST3GAL5	HP:0003623	Neonatal onset	-	OMIM:609056
8869	ST3GAL5	HP:0006834	Developmental stagnation at onset of seizures	8/8	OMIM:609056
8869	ST3GAL5	HP:0000648	Optic atrophy	-	OMIM:609056
8869	ST3GAL5	HP:0000737	Irritability	8/8	OMIM:609056
8869	ST3GAL5	HP:0000252	Microcephaly	HP:0040283	OMIM:609056
8869	ST3GAL5	HP:0001508	Failure to thrive	8/8	OMIM:609056
8869	ST3GAL5	HP:0012391	Hyporeflexia of upper limbs	8/8	OMIM:609056
8869	ST3GAL5	HP:0000365	Hearing impairment	HP:0040283	OMIM:609056
8869	ST3GAL5	HP:0000572	Visual loss	-	OMIM:609056
8878	SQSTM1	HP:0002493	Upper motor neuron dysfunction	HP:0040283	ORPHA:275864
8878	SQSTM1	HP:0002465	Poor speech	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0002463	Language impairment	HP:0040283	ORPHA:803
8878	SQSTM1	HP:0002463	Language impairment	-	OMIM:616437
8878	SQSTM1	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0002442	Dyscalculia	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0002442	Dyscalculia	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0002446	Astrocytosis	HP:0040283	ORPHA:275864
8878	SQSTM1	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:275872
8878	SQSTM1	HP:0007256	Abnormal pyramidal sign	2/9	OMIM:617145
8878	SQSTM1	HP:0020203	Z-band streaming	-	OMIM:617158
8878	SQSTM1	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0001272	Cerebellar atrophy	4/8	OMIM:617145
8878	SQSTM1	HP:0001268	Mental deterioration	8/9	OMIM:617145
8878	SQSTM1	HP:0001268	Mental deterioration	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0001288	Gait disturbance	-	OMIM:617145
8878	SQSTM1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:275864
8878	SQSTM1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:603
8878	SQSTM1	HP:0001283	Bulbar palsy	HP:0040283	ORPHA:275872
8878	SQSTM1	HP:0001283	Bulbar palsy	-	OMIM:616437
8878	SQSTM1	HP:0001251	Ataxia	20/20	OMIM:617145
8878	SQSTM1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:275872
8878	SQSTM1	HP:0001265	Hyporeflexia	-	OMIM:616437
8878	SQSTM1	HP:0001260	Dysarthria	20/20	OMIM:617145
8878	SQSTM1	HP:0001260	Dysarthria	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0001260	Dysarthria	-	OMIM:616437
8878	SQSTM1	HP:0001257	Spasticity	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
8878	SQSTM1	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
8878	SQSTM1	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:616437
8878	SQSTM1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:275864
8878	SQSTM1	HP:0003805	Rimmed vacuoles	-	OMIM:617158
8878	SQSTM1	HP:0003805	Rimmed vacuoles	HP:0040282	ORPHA:603
8878	SQSTM1	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
8878	SQSTM1	HP:0000020	Urinary incontinence	3/9	OMIM:617145
8878	SQSTM1	HP:0001347	Hyperreflexia	-	OMIM:617145
8878	SQSTM1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:275864
8878	SQSTM1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0001347	Hyperreflexia	-	OMIM:616437
8878	SQSTM1	HP:0001332	Dystonia	7/9	OMIM:617145
8878	SQSTM1	HP:0001324	Muscle weakness	-	OMIM:616437
8878	SQSTM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617145
8878	SQSTM1	HP:0002669	Osteosarcoma	-	OMIM:167250
8878	SQSTM1	HP:0001337	Tremor	1/9	OMIM:617145
8878	SQSTM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616437
8878	SQSTM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:167250
8878	SQSTM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617158
8878	SQSTM1	HP:0001310	Dysmetria	-	OMIM:617145
8878	SQSTM1	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
8878	SQSTM1	HP:0002653	Bone pain	-	OMIM:167250
8878	SQSTM1	HP:0001300	Parkinsonism	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0002797	Osteolysis	-	OMIM:167250
8878	SQSTM1	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
8878	SQSTM1	HP:0008959	Distal upper limb muscle weakness	HP:0040281	ORPHA:603
8878	SQSTM1	HP:0008954	Intrinsic hand muscle atrophy	HP:0040281	ORPHA:603
8878	SQSTM1	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0031237	Internally nucleated skeletal muscle fibers	2/2	OMIM:617158
8878	SQSTM1	HP:0002015	Dysphagia	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0002015	Dysphagia	-	OMIM:616437
8878	SQSTM1	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
8878	SQSTM1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0100543	Cognitive impairment	11/11	OMIM:617145
8878	SQSTM1	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:275864
8878	SQSTM1	HP:0002066	Gait ataxia	-	OMIM:617145
8878	SQSTM1	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0002075	Dysdiadochokinesis	-	OMIM:617145
8878	SQSTM1	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0002070	Limb ataxia	-	OMIM:617145
8878	SQSTM1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:275864
8878	SQSTM1	HP:0003376	Steppage gait	-	OMIM:617158
8878	SQSTM1	HP:0003376	Steppage gait	HP:0040282	ORPHA:603
8878	SQSTM1	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
8878	SQSTM1	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:603
8878	SQSTM1	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:275872
8878	SQSTM1	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
8878	SQSTM1	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0002145	Frontotemporal dementia	-	OMIM:616437
8878	SQSTM1	HP:0003470	Paralysis	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0003487	Babinski sign	0/2	OMIM:617158
8878	SQSTM1	HP:0003487	Babinski sign	HP:0040283	ORPHA:275872
8878	SQSTM1	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0002120	Cerebral cortical atrophy	-	OMIM:616437
8878	SQSTM1	HP:0002127	Abnormal upper motor neuron morphology	HP:0040281	ORPHA:275872
8878	SQSTM1	HP:0003458	EMG: myopathic abnormalities	3/3	OMIM:617158
8878	SQSTM1	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:603
8878	SQSTM1	HP:0003438	Absent Achilles reflex	-	OMIM:617158
8878	SQSTM1	HP:0002186	Apraxia	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
8878	SQSTM1	HP:0002171	Gliosis	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0010549	Weakness due to upper motor neuron dysfunction	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0010529	Echolalia	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0010522	Dyslexia	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0010526	Dysgraphia	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0002273	Tetraparesis	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:617158
8878	SQSTM1	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:275872
8878	SQSTM1	HP:0008322	Abnormal mitochondrial morphology	HP:0040283	ORPHA:275872
8878	SQSTM1	HP:0010628	Facial palsy	2/3	OMIM:617158
8878	SQSTM1	HP:0002385	Paraparesis	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0002380	Fasciculations	HP:0040283	ORPHA:275872
8878	SQSTM1	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0002380	Fasciculations	HP:0040283	ORPHA:275864
8878	SQSTM1	HP:0002380	Fasciculations	-	OMIM:616437
8878	SQSTM1	HP:0002381	Aphasia	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0002366	Abnormal lower motor neuron morphology	-	OMIM:616437
8878	SQSTM1	HP:0002366	Abnormal lower motor neuron morphology	HP:0040281	ORPHA:275872
8878	SQSTM1	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
8878	SQSTM1	HP:0003691	Scapular winging	2/3	OMIM:617158
8878	SQSTM1	HP:0002371	Loss of speech	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0003676	Progressive	-	OMIM:617145
8878	SQSTM1	HP:0003676	Progressive	-	OMIM:616437
8878	SQSTM1	HP:0002354	Memory impairment	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
8878	SQSTM1	HP:0002314	Degeneration of the lateral corticospinal tracts	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0100660	Dyskinesia	4/11	OMIM:617145
8878	SQSTM1	HP:0007149	Distal upper limb amyotrophy	HP:0040282	ORPHA:603
8878	SQSTM1	HP:0002300	Mutism	HP:0040283	ORPHA:275872
8878	SQSTM1	HP:0002300	Mutism	HP:0040283	ORPHA:275864
8878	SQSTM1	HP:0002300	Mutism	-	OMIM:616437
8878	SQSTM1	HP:0002312	Clumsiness	HP:0040282	ORPHA:603
8878	SQSTM1	HP:0002307	Drooling	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0007190	Neuronal loss in the cerebral cortex	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0009077	Weakness of long finger extensor muscles	HP:0040281	ORPHA:603
8878	SQSTM1	HP:0006892	Frontotemporal cerebral atrophy	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0000639	Nystagmus	2/11	OMIM:617145
8878	SQSTM1	HP:0000605	Supranuclear gaze palsy	HP:0040283	ORPHA:275872
8878	SQSTM1	HP:0012671	Abulia	HP:0040283	ORPHA:275864
8878	SQSTM1	HP:0009027	Foot dorsiflexor weakness	4/4	OMIM:617158
8878	SQSTM1	HP:0009027	Foot dorsiflexor weakness	HP:0040281	ORPHA:603
8878	SQSTM1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
8878	SQSTM1	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:275864
8878	SQSTM1	HP:0000657	Oculomotor apraxia	1/9	OMIM:617145
8878	SQSTM1	HP:0004326	Cachexia	HP:0040283	ORPHA:803
8878	SQSTM1	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0003084	Recurrent long bone fractures	-	OMIM:167250
8878	SQSTM1	HP:0005686	Patchy osteosclerosis	-	OMIM:167250
8878	SQSTM1	HP:0000757	Lack of insight	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0000751	Personality changes	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0000751	Personality changes	-	OMIM:616437
8878	SQSTM1	HP:0000738	Hallucinations	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0000737	Irritability	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0000739	Anxiety	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0000734	Disinhibition	HP:0040283	ORPHA:275872
8878	SQSTM1	HP:0000734	Disinhibition	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0000734	Disinhibition	-	OMIM:616437
8878	SQSTM1	HP:0000733	Motor stereotypy	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0000741	Apathy	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0000741	Apathy	HP:0040283	ORPHA:275864
8878	SQSTM1	HP:0000741	Apathy	-	OMIM:616437
8878	SQSTM1	HP:0000719	Inappropriate behavior	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0000716	Depression	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0000716	Depression	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0000718	Aggressive behavior	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0000711	Restlessness	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0000710	Hyperorality	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0000723	Restrictive behavior	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0000709	Psychosis	HP:0040283	ORPHA:275864
8878	SQSTM1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:275872
8878	SQSTM1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0000708	Atypical behavior	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
8878	SQSTM1	HP:0003198	Myopathy	HP:0040281	ORPHA:603
8878	SQSTM1	HP:0003155	Elevated circulating alkaline phosphatase concentration	-	OMIM:167250
8878	SQSTM1	HP:0000815	Hypergonadotropic hypogonadism	2/2	OMIM:617145
8878	SQSTM1	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:617158
8878	SQSTM1	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0003202	Skeletal muscle atrophy	-	OMIM:617158
8878	SQSTM1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0003202	Skeletal muscle atrophy	-	OMIM:616437
8878	SQSTM1	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0012378	Fatigue	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0000365	Hearing impairment	HP:0040283	OMIM:167250
8878	SQSTM1	HP:0000365	Hearing impairment	3/9	OMIM:617145
8878	SQSTM1	HP:0001638	Cardiomyopathy	-	ORPHA:603
8878	SQSTM1	HP:0030213	Emotional dearth	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0030212	Collectionism	HP:0040282	ORPHA:275864
8878	SQSTM1	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0030223	Perseverative thought	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0030223	Perseverative thought	HP:0040283	ORPHA:275872
8878	SQSTM1	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:275864
8878	SQSTM1	HP:0000511	Vertical supranuclear gaze palsy	18/20	OMIM:617145
8878	SQSTM1	HP:0001824	Weight loss	HP:0040282	ORPHA:803
8878	SQSTM1	HP:0000508	Ptosis	HP:0040284	ORPHA:275872
8878	SQSTM1	HP:0011204	EEG with continuous slow activity	HP:0040282	ORPHA:275864
8878	SQSTM1	HP:0012531	Pain	HP:0040282	ORPHA:803
8879	SGPL1	HP:0003774	Stage 5 chronic kidney disease	5/9	OMIM:617575
8879	SGPL1	HP:0001290	Generalized hypotonia	-	OMIM:617575
8879	SGPL1	HP:0001268	Mental deterioration	-	OMIM:617575
8879	SGPL1	HP:0001250	Seizure	-	OMIM:617575
8879	SGPL1	HP:0001251	Ataxia	2/8	OMIM:617575
8879	SGPL1	HP:0001263	Global developmental delay	3/8	OMIM:617575
8879	SGPL1	HP:0000097	Focal segmental glomerulosclerosis	2/4	OMIM:617575
8879	SGPL1	HP:0000093	Proteinuria	-	OMIM:617575
8879	SGPL1	HP:0000054	Micropenis	-	OMIM:617575
8879	SGPL1	HP:0000028	Cryptorchidism	-	OMIM:617575
8879	SGPL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617575
8879	SGPL1	HP:0000135	Hypogonadism	-	OMIM:617575
8879	SGPL1	HP:0031266	Podocyte foot process effacement	-	OMIM:617575
8879	SGPL1	HP:0000100	Nephrotic syndrome	-	OMIM:617575
8879	SGPL1	HP:0002155	Hypertriglyceridemia	-	OMIM:617575
8879	SGPL1	HP:0003593	Infantile onset	6/8	OMIM:617575
8879	SGPL1	HP:0002376	Developmental regression	1/8	OMIM:617575
8879	SGPL1	HP:0003676	Progressive	-	OMIM:617575
8879	SGPL1	HP:0009830	Peripheral neuropathy	-	OMIM:617575
8879	SGPL1	HP:0003621	Juvenile onset	1/8	OMIM:617575
8879	SGPL1	HP:0001967	Diffuse mesangial sclerosis	-	OMIM:617575
8879	SGPL1	HP:0001943	Hypoglycemia	-	OMIM:617575
8879	SGPL1	HP:0003073	Hypoalbuminemia	-	OMIM:617575
8879	SGPL1	HP:0011463	Childhood onset	1/8	OMIM:617575
8879	SGPL1	HP:0000846	Adrenal insufficiency	-	OMIM:617575
8879	SGPL1	HP:0000821	Hypothyroidism	4/4	OMIM:617575
8879	SGPL1	HP:0000953	Hyperpigmentation of the skin	8/8	OMIM:617575
8879	SGPL1	HP:0000969	Edema	-	OMIM:617575
8879	SGPL1	HP:0008064	Ichthyosis	4/5	OMIM:617575
8879	SGPL1	HP:0000252	Microcephaly	-	OMIM:617575
8879	SGPL1	HP:0000407	Sensorineural hearing impairment	2/8	OMIM:617575
8879	SGPL1	HP:0000486	Strabismus	-	OMIM:617575
8879	SGPL1	HP:0000508	Ptosis	-	OMIM:617575
8879	SGPL1	HP:0012588	Steroid-resistant nephrotic syndrome	5/8	OMIM:617575
8879	SGPL1	HP:0012574	Mesangial hypercellularity	2/4	OMIM:617575
8879	SGPL1	HP:0001888	Decreased total lymphocyte count	2/8	OMIM:617575
8882	ZPR1	HP:0002566	Intestinal malrotation	1/3	OMIM:619321
8882	ZPR1	HP:0008734	Decreased testicular size	1/1	OMIM:619321
8882	ZPR1	HP:0008724	Hypoplasia of the ovary	2/3	OMIM:619321
8882	ZPR1	HP:0000089	Renal hypoplasia	4/4	OMIM:619321
8882	ZPR1	HP:0001397	Hepatic steatosis	3/4	OMIM:619321
8882	ZPR1	HP:0001371	Flexion contracture	4/4	OMIM:619321
8882	ZPR1	HP:0000054	Micropenis	1/1	OMIM:619321
8882	ZPR1	HP:0007513	Generalized hypopigmentation	4/4	OMIM:619321
8882	ZPR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619321
8882	ZPR1	HP:0000185	Cleft soft palate	1/4	OMIM:619321
8882	ZPR1	HP:0002714	Downturned corners of mouth	4/4	OMIM:619321
8882	ZPR1	HP:0002157	Azotemia	4/4	OMIM:619321
8882	ZPR1	HP:0008278	Cerebellar cortical atrophy	1/4	OMIM:619321
8882	ZPR1	HP:0430009	Hypoplasia of eyelid	4/4	OMIM:619321
8882	ZPR1	HP:0000648	Optic atrophy	1/4	OMIM:619321
8882	ZPR1	HP:0001974	Increased total leukocyte count	3/3	OMIM:619321
8882	ZPR1	HP:0000609	Optic nerve hypoplasia	1/4	OMIM:619321
8882	ZPR1	HP:0011344	Severe global developmental delay	4/4	OMIM:619321
8882	ZPR1	HP:0000662	Nyctalopia	1/4	OMIM:619321
8882	ZPR1	HP:0004322	Short stature	4/4	OMIM:619321
8882	ZPR1	HP:0012743	Abdominal obesity	4/4	OMIM:619321
8882	ZPR1	HP:0003196	Short nose	4/4	OMIM:619321
8882	ZPR1	HP:0000293	Full cheeks	4/4	OMIM:619321
8882	ZPR1	HP:0001596	Alopecia	4/4	OMIM:619321
8882	ZPR1	HP:0000238	Hydrocephalus	3/3	OMIM:619321
8882	ZPR1	HP:0000252	Microcephaly	4/4	OMIM:619321
8882	ZPR1	HP:0002857	Genu valgum	4/4	OMIM:619321
8882	ZPR1	HP:0001511	Intrauterine growth retardation	4/4	OMIM:619321
8882	ZPR1	HP:0000319	Smooth philtrum	4/4	OMIM:619321
8882	ZPR1	HP:0000490	Deeply set eye	4/4	OMIM:619321
8882	ZPR1	HP:0000444	Convex nasal ridge	4/4	OMIM:619321
8882	ZPR1	HP:0011220	Prominent forehead	4/4	OMIM:619321
8882	ZPR1	HP:0000556	Retinal dystrophy	1/4	OMIM:619321
8883	NAE1	HP:0001250	Seizure	3/4	OMIM:620210
8883	NAE1	HP:0001252	Hypotonia	3/4	OMIM:620210
8883	NAE1	HP:0001263	Global developmental delay	4/4	OMIM:620210
8883	NAE1	HP:0001373	Joint dislocation	2/4	OMIM:620210
8883	NAE1	HP:0001387	Joint stiffness	1/4	OMIM:620210
8883	NAE1	HP:0001382	Joint hypermobility	2/4	OMIM:620210
8883	NAE1	HP:0008897	Postnatal growth retardation	2/4	OMIM:620210
8883	NAE1	HP:0000010	Recurrent urinary tract infections	2/4	OMIM:620210
8883	NAE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620210
8883	NAE1	HP:0000175	Cleft palate	1/4	OMIM:620210
8883	NAE1	HP:0002079	Hypoplasia of the corpus callosum	4/4	OMIM:620210
8883	NAE1	HP:0002119	Ventriculomegaly	3/4	OMIM:620210
8883	NAE1	HP:0002188	Delayed CNS myelination	4/4	OMIM:620210
8883	NAE1	HP:0002180	Neurodegeneration	4/4	OMIM:620210
8883	NAE1	HP:0002240	Hepatomegaly	2/4	OMIM:620210
8883	NAE1	HP:0002205	Recurrent respiratory infections	4/4	OMIM:620210
8883	NAE1	HP:0004322	Short stature	2/4	OMIM:620210
8883	NAE1	HP:0004315	Decreased circulating IgG concentration	2/4	OMIM:620210
8883	NAE1	HP:0004349	Reduced bone mineral density	4/4	OMIM:620210
8883	NAE1	HP:0001581	Recurrent skin infections	2/4	OMIM:620210
8883	NAE1	HP:0002850	Decreased circulating total IgM	1/4	OMIM:620210
8883	NAE1	HP:0001680	Coarctation of aorta	1/4	OMIM:620210
8883	NAE1	HP:0001629	Ventricular septal defect	1/4	OMIM:620210
8883	NAE1	HP:0001744	Splenomegaly	3/4	OMIM:620210
8883	NAE1	HP:0001888	Decreased total lymphocyte count	3/4	OMIM:620210
8883	NAE1	HP:0001882	Decreased total leukocyte count	3/4	OMIM:620210
8884	SLC5A6	HP:0002421	Poor head control	1/1	OMIM:618973
8884	SLC5A6	HP:0001272	Cerebellar atrophy	1/2	OMIM:618973
8884	SLC5A6	HP:0001250	Seizure	1/2	OMIM:618973
8884	SLC5A6	HP:0001249	Intellectual disability	0/5	OMIM:619903
8884	SLC5A6	HP:0001263	Global developmental delay	1/1	OMIM:618973
8884	SLC5A6	HP:0001257	Spasticity	1/2	OMIM:618973
8884	SLC5A6	HP:0002572	Episodic vomiting	1/2	OMIM:618973
8884	SLC5A6	HP:0033685	Fiber type grouping	1/2	OMIM:619903
8884	SLC5A6	HP:0002522	Areflexia of lower limbs	2/5	OMIM:619903
8884	SLC5A6	HP:0000023	Inguinal hernia	2/5	OMIM:619903
8884	SLC5A6	HP:0000007	Autosomal recessive inheritance	-	OMIM:618973
8884	SLC5A6	HP:0000007	Autosomal recessive inheritance	-	OMIM:619903
8884	SLC5A6	HP:0001310	Dysmetria	1/5	OMIM:619903
8884	SLC5A6	HP:0012110	Hypoplasia of the pons	1/1	OMIM:618973
8884	SLC5A6	HP:0003393	Thenar muscle atrophy	4/5	OMIM:619903
8884	SLC5A6	HP:0002079	Hypoplasia of the corpus callosum	3/3	OMIM:618973
8884	SLC5A6	HP:0002075	Dysdiadochokinesis	1/5	OMIM:619903
8884	SLC5A6	HP:0002059	Cerebral atrophy	3/3	OMIM:618973
8884	SLC5A6	HP:0002126	Polymicrogyria	1/1	OMIM:618973
8884	SLC5A6	HP:0003593	Infantile onset	2/2	OMIM:618973
8884	SLC5A6	HP:0002216	Premature graying of hair	1/5	OMIM:619903
8884	SLC5A6	HP:0002280	Enlarged cisterna magna	1/2	OMIM:618973
8884	SLC5A6	HP:0100759	Clubbing of fingers	1/2	OMIM:618973
8884	SLC5A6	HP:0009830	Peripheral neuropathy	-	OMIM:618973
8884	SLC5A6	HP:0003621	Juvenile onset	5/5	OMIM:619903
8884	SLC5A6	HP:0007181	Interosseus muscle atrophy	4/5	OMIM:619903
8884	SLC5A6	HP:0000639	Nystagmus	3/3	OMIM:618973
8884	SLC5A6	HP:0009053	Distal lower limb muscle weakness	3/5	OMIM:619903
8884	SLC5A6	HP:0004315	Decreased circulating IgG concentration	2/2	OMIM:618973
8884	SLC5A6	HP:0100021	Cerebral palsy	1/1	OMIM:618973
8884	SLC5A6	HP:0011471	Gastrostomy tube feeding in infancy	1/1	OMIM:618973
8884	SLC5A6	HP:0000252	Microcephaly	3/3	OMIM:618973
8884	SLC5A6	HP:0001644	Dilated cardiomyopathy	1/5	OMIM:619903
8888	MCM3AP	HP:0001171	Split hand	2/4	OMIM:618124
8888	MCM3AP	HP:0002460	Distal muscle weakness	4/4	OMIM:618124
8888	MCM3AP	HP:0007328	Impaired pain sensation	1/9	OMIM:618124
8888	MCM3AP	HP:0001270	Motor delay	2/4	OMIM:618124
8888	MCM3AP	HP:0001256	Intellectual disability, mild	4/6	OMIM:618124
8888	MCM3AP	HP:0001252	Hypotonia	2/2	OMIM:618124
8888	MCM3AP	HP:0001251	Ataxia	2/2	OMIM:618124
8888	MCM3AP	HP:0001249	Intellectual disability	7/9	OMIM:618124
8888	MCM3AP	HP:0001265	Hyporeflexia	1/4	OMIM:618124
8888	MCM3AP	HP:0002522	Areflexia of lower limbs	6/9	OMIM:618124
8888	MCM3AP	HP:0002505	Loss of ambulation	6/8	OMIM:618124
8888	MCM3AP	HP:0000007	Autosomal recessive inheritance	-	OMIM:618124
8888	MCM3AP	HP:0002650	Scoliosis	3/13	OMIM:618124
8888	MCM3AP	HP:0002705	High, narrow palate	-	OMIM:618124
8888	MCM3AP	HP:0003477	Peripheral axonal neuropathy	2/2	OMIM:618124
8888	MCM3AP	HP:0008209	Premature ovarian insufficiency	2/5	OMIM:618124
8888	MCM3AP	HP:0003577	Congenital onset	1/4	OMIM:618124
8888	MCM3AP	HP:0003677	Slowly progressive	-	OMIM:618124
8888	MCM3AP	HP:0002317	Unsteady gait	-	OMIM:618124
8888	MCM3AP	HP:0007141	Sensorimotor neuropathy	9/9	OMIM:618124
8888	MCM3AP	HP:0003621	Juvenile onset	2/4	OMIM:618124
8888	MCM3AP	HP:0000602	Ophthalmoplegia	1/4	OMIM:618124
8888	MCM3AP	HP:0009027	Foot dorsiflexor weakness	-	OMIM:618124
8888	MCM3AP	HP:0004322	Short stature	3/9	OMIM:618124
8888	MCM3AP	HP:0031936	Delayed ability to walk	5/9	OMIM:618124
8888	MCM3AP	HP:0000750	Delayed speech and language development	1/4	OMIM:618124
8888	MCM3AP	HP:0011463	Childhood onset	1/4	OMIM:618124
8888	MCM3AP	HP:0002808	Kyphosis	1/4	OMIM:618124
8888	MCM3AP	HP:0002870	Obstructive sleep apnea	1/9	OMIM:618124
8888	MCM3AP	HP:0001513	Obesity	2/9	OMIM:618124
8888	MCM3AP	HP:0002936	Distal sensory impairment	HP:0040284	OMIM:618124
8888	MCM3AP	HP:0000486	Strabismus	4/13	OMIM:618124
8888	MCM3AP	HP:0000496	Abnormality of eye movement	HP:0040284	OMIM:618124
8888	MCM3AP	HP:0001761	Pes cavus	2/4	OMIM:618124
8890	EIF2B4	HP:0001256	Intellectual disability, mild	1/2	OMIM:620314
8890	EIF2B4	HP:0001260	Dysarthria	1/2	OMIM:620314
8890	EIF2B4	HP:0001257	Spasticity	2/2	OMIM:620314
8890	EIF2B4	HP:0007371	Corpus callosum atrophy	2/2	OMIM:620314
8890	EIF2B4	HP:0000007	Autosomal recessive inheritance	-	OMIM:620314
8890	EIF2B4	HP:0002120	Cerebral cortical atrophy	2/2	OMIM:620314
8890	EIF2B4	HP:0002119	Ventriculomegaly	2/2	OMIM:620314
8890	EIF2B4	HP:0002352	Leukoencephalopathy	4/4	OMIM:620314
8890	EIF2B4	HP:0002317	Unsteady gait	1/2	OMIM:620314
8890	EIF2B4	HP:0003621	Juvenile onset	1/2	OMIM:620314
8890	EIF2B4	HP:0000648	Optic atrophy	2/2	OMIM:620314
8890	EIF2B4	HP:0031936	Delayed ability to walk	1/2	OMIM:620314
8890	EIF2B4	HP:0011463	Childhood onset	1/2	OMIM:620314
8890	EIF2B4	HP:0000786	Primary amenorrhea	1/2	OMIM:620314
8890	EIF2B4	HP:0000869	Secondary amenorrhea	1/2	OMIM:620314
8891	EIF2B3	HP:0001250	Seizure	1/5	OMIM:620313
8891	EIF2B3	HP:0001260	Dysarthria	1/5	OMIM:620313
8891	EIF2B3	HP:0007340	Lower limb muscle weakness	1/1	OMIM:620313
8891	EIF2B3	HP:0002505	Loss of ambulation	4/5	OMIM:620313
8891	EIF2B3	HP:0000007	Autosomal recessive inheritance	-	OMIM:620313
8891	EIF2B3	HP:0002352	Leukoencephalopathy	3/3	OMIM:620313
8891	EIF2B3	HP:0011462	Young adult onset	1/1	OMIM:620313
8891	EIF2B3	HP:0000869	Secondary amenorrhea	1/1	OMIM:620313
8891	EIF2B3	HP:0012377	Hemianopia	1/1	OMIM:620313
8892	EIF2B2	HP:0001260	Dysarthria	1/2	OMIM:620312
8892	EIF2B2	HP:0001257	Spasticity	2/2	OMIM:620312
8892	EIF2B2	HP:0007340	Lower limb muscle weakness	1/1	OMIM:620312
8892	EIF2B2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620312
8892	EIF2B2	HP:0008209	Premature ovarian insufficiency	2/2	OMIM:620312
8892	EIF2B2	HP:0002354	Memory impairment	1/1	OMIM:620312
8892	EIF2B2	HP:0002352	Leukoencephalopathy	1/1	OMIM:620312
8892	EIF2B2	HP:0002317	Unsteady gait	1/1	OMIM:620312
8892	EIF2B2	HP:0000648	Optic atrophy	0/2	OMIM:620312
8892	EIF2B2	HP:0000869	Secondary amenorrhea	1/1	OMIM:620312
8892	EIF2B2	HP:0000518	Cataract	1/1	OMIM:620312
8893	EIF2B5	HP:0001259	Coma	3/4	OMIM:620315
8893	EIF2B5	HP:0002505	Loss of ambulation	1/4	OMIM:620315
8893	EIF2B5	HP:0002500	Abnormal cerebral white matter morphology	1/4	OMIM:620315
8893	EIF2B5	HP:0001355	Megalencephaly	3/4	OMIM:620315
8893	EIF2B5	HP:0000007	Autosomal recessive inheritance	-	OMIM:620315
8893	EIF2B5	HP:0003593	Infantile onset	1/4	OMIM:620315
8893	EIF2B5	HP:0007082	Dilated third ventricle	1/4	OMIM:620315
8893	EIF2B5	HP:0002344	Progressive neurologic deterioration	4/4	OMIM:620315
8893	EIF2B5	HP:6000447	Decreased CSF asialotransferrin to transferrin ratio	7/7	OMIM:620315
8893	EIF2B5	HP:0006956	Lateral ventricle dilatation	1/4	OMIM:620315
8893	EIF2B5	HP:0011463	Childhood onset	3/4	OMIM:620315
8898	MTMR2	HP:0002460	Distal muscle weakness	-	OMIM:601382
8898	MTMR2	HP:0007208	Irregular myelin loops	-	OMIM:601382
8898	MTMR2	HP:0003701	Proximal muscle weakness	-	OMIM:601382
8898	MTMR2	HP:0001270	Motor delay	-	OMIM:601382
8898	MTMR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:601382
8898	MTMR2	HP:0002650	Scoliosis	-	OMIM:601382
8898	MTMR2	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:601382
8898	MTMR2	HP:0010628	Facial palsy	-	OMIM:601382
8898	MTMR2	HP:0003693	Distal amyotrophy	20/20	OMIM:601382
8898	MTMR2	HP:0004336	Myelin outfoldings	-	OMIM:601382
8898	MTMR2	HP:0006958	Abnormal auditory evoked potentials	-	OMIM:601382
8898	MTMR2	HP:0002936	Distal sensory impairment	-	OMIM:601382
8898	MTMR2	HP:0001762	Talipes equinovarus	-	OMIM:601382
8905	AP1S2	HP:0025116	Fetal distress	1/5	OMIM:304340
8905	AP1S2	HP:0002465	Poor speech	HP:0040281	ORPHA:85335
8905	AP1S2	HP:0010864	Intellectual disability, severe	-	OMIM:304340
8905	AP1S2	HP:0002410	Aqueductal stenosis	2/5	OMIM:304340
8905	AP1S2	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:85329
8905	AP1S2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:85335
8905	AP1S2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:85329
8905	AP1S2	HP:0001256	Intellectual disability, mild	6/21	OMIM:304340
8905	AP1S2	HP:0001250	Seizure	-	OMIM:304340
8905	AP1S2	HP:0001252	Hypotonia	15/15	OMIM:304340
8905	AP1S2	HP:0001252	Hypotonia	HP:0040281	ORPHA:85335
8905	AP1S2	HP:0001264	Spastic diplegia	HP:0040281	ORPHA:85335
8905	AP1S2	HP:0001266	Choreoathetosis	-	OMIM:304340
8905	AP1S2	HP:0001263	Global developmental delay	5/5	OMIM:304340
8905	AP1S2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:85335
8905	AP1S2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:85329
8905	AP1S2	HP:0001257	Spasticity	-	OMIM:304340
8905	AP1S2	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:1568
8905	AP1S2	HP:0002514	Cerebral calcification	HP:0040281	ORPHA:85335
8905	AP1S2	HP:0002514	Cerebral calcification	HP:0040283	OMIM:304340
8905	AP1S2	HP:0001371	Flexion contracture	-	OMIM:304340
8905	AP1S2	HP:0000023	Inguinal hernia	HP:0040281	ORPHA:1568
8905	AP1S2	HP:0002684	Thickened calvaria	HP:0040283	ORPHA:85335
8905	AP1S2	HP:0002684	Thickened calvaria	1/5	OMIM:304340
8905	AP1S2	HP:0001347	Hyperreflexia	-	OMIM:304340
8905	AP1S2	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:1568
8905	AP1S2	HP:0001344	Absent speech	10/21	OMIM:304340
8905	AP1S2	HP:0001305	Dandy-Walker malformation	HP:0040283	OMIM:304340
8905	AP1S2	HP:0001320	Cerebellar vermis hypoplasia	1/5	OMIM:304340
8905	AP1S2	HP:0002650	Scoliosis	-	OMIM:304340
8905	AP1S2	HP:0002650	Scoliosis	HP:0040282	ORPHA:85335
8905	AP1S2	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:85335
8905	AP1S2	HP:0012171	Stereotypical hand wringing	1/5	OMIM:304340
8905	AP1S2	HP:0000194	Open mouth	HP:0040281	ORPHA:85329
8905	AP1S2	HP:0000154	Wide mouth	-	OMIM:304340
8905	AP1S2	HP:0007663	Reduced visual acuity	1/5	OMIM:304340
8905	AP1S2	HP:0001419	X-linked recessive inheritance	-	OMIM:304340
8905	AP1S2	HP:0002066	Gait ataxia	-	OMIM:304340
8905	AP1S2	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1568
8905	AP1S2	HP:0002119	Ventriculomegaly	1/5	OMIM:304340
8905	AP1S2	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1568
8905	AP1S2	HP:0002135	Basal ganglia calcification	1/5	OMIM:304340
8905	AP1S2	HP:0002187	Intellectual disability, profound	HP:0040281	ORPHA:85329
8905	AP1S2	HP:0002187	Intellectual disability, profound	4/21	OMIM:304340
8905	AP1S2	HP:0003593	Infantile onset	-	OMIM:304340
8905	AP1S2	HP:0100716	Self-injurious behavior	-	OMIM:304340
8905	AP1S2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:85329
8905	AP1S2	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:85335
8905	AP1S2	HP:0002342	Intellectual disability, moderate	8/16	OMIM:304340
8905	AP1S2	HP:0002353	EEG abnormality	HP:0040282	ORPHA:85329
8905	AP1S2	HP:0003623	Neonatal onset	4/5	OMIM:304340
8905	AP1S2	HP:0000648	Optic atrophy	1/5	OMIM:304340
8905	AP1S2	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:85329
8905	AP1S2	HP:0004322	Short stature	HP:0040283	ORPHA:85329
8905	AP1S2	HP:0031936	Delayed ability to walk	16/21	OMIM:304340
8905	AP1S2	HP:0000750	Delayed speech and language development	1/5	OMIM:304340
8905	AP1S2	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:85335
8905	AP1S2	HP:0000718	Aggressive behavior	HP:0040281	ORPHA:85329
8905	AP1S2	HP:0000718	Aggressive behavior	10/21	OMIM:304340
8905	AP1S2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:85335
8905	AP1S2	HP:0011463	Childhood onset	1/5	OMIM:304340
8905	AP1S2	HP:0003198	Myopathy	HP:0040282	ORPHA:85329
8905	AP1S2	HP:0003189	Long nose	HP:0040281	ORPHA:85329
8905	AP1S2	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:85335
8905	AP1S2	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:85329
8905	AP1S2	HP:0000280	Coarse facial features	HP:0040282	ORPHA:85335
8905	AP1S2	HP:0000280	Coarse facial features	-	OMIM:304340
8905	AP1S2	HP:0000256	Macrocephaly	HP:0040281	ORPHA:1568
8905	AP1S2	HP:0000276	Long face	HP:0040282	ORPHA:85335
8905	AP1S2	HP:0000276	Long face	HP:0040281	ORPHA:85329
8905	AP1S2	HP:0000276	Long face	-	OMIM:304340
8905	AP1S2	HP:0005101	High-frequency hearing impairment	-	OMIM:304340
8905	AP1S2	HP:0000238	Hydrocephalus	2/5	OMIM:304340
8905	AP1S2	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:85335
8905	AP1S2	HP:0000252	Microcephaly	8/16	OMIM:304340
8905	AP1S2	HP:0000252	Microcephaly	HP:0040281	ORPHA:85329
8905	AP1S2	HP:0000218	High palate	HP:0040282	ORPHA:85335
8905	AP1S2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:85335
8905	AP1S2	HP:0000348	High forehead	HP:0040281	ORPHA:85329
8905	AP1S2	HP:0000331	Short chin	HP:0040281	ORPHA:85329
8905	AP1S2	HP:0000322	Short philtrum	HP:0040282	ORPHA:85335
8905	AP1S2	HP:0000325	Triangular face	HP:0040281	ORPHA:85329
8905	AP1S2	HP:0000303	Mandibular prognathia	-	OMIM:304340
8905	AP1S2	HP:0000407	Sensorineural hearing impairment	-	OMIM:304340
8905	AP1S2	HP:0000400	Macrotia	HP:0040282	ORPHA:85335
8905	AP1S2	HP:0000486	Strabismus	HP:0040281	ORPHA:1568
8905	AP1S2	HP:0012471	Thick vermilion border	-	OMIM:304340
8905	AP1S2	HP:0000490	Deeply set eye	-	OMIM:304340
8905	AP1S2	HP:0000448	Prominent nose	-	OMIM:304340
8905	AP1S2	HP:0000411	Protruding ear	HP:0040281	ORPHA:85329
8905	AP1S2	HP:0005450	Calvarial osteosclerosis	1/5	OMIM:304340
8905	AP1S2	HP:0000587	Abnormal optic nerve morphology	HP:0040283	ORPHA:85335
8905	AP1S2	HP:0011220	Prominent forehead	-	OMIM:304340
8910	SGCE	HP:0025269	Panic attack	HP:0040282	ORPHA:36899
8910	SGCE	HP:0025269	Panic attack	4/37	OMIM:159900
8910	SGCE	HP:0001252	Hypotonia	HP:0040283	OMIM:159900
8910	SGCE	HP:0003829	Typified by incomplete penetrance	-	OMIM:159900
8910	SGCE	HP:0012075	Personality disorder	HP:0040282	ORPHA:36899
8910	SGCE	HP:0001332	Dystonia	HP:0040281	ORPHA:36899
8910	SGCE	HP:0001337	Tremor	-	OMIM:159900
8910	SGCE	HP:0000006	Autosomal dominant inheritance	-	OMIM:159900
8910	SGCE	HP:0001336	Myoclonus	HP:0040281	ORPHA:36899
8910	SGCE	HP:0001336	Myoclonus	37/37	OMIM:159900
8910	SGCE	HP:0030955	Addictive alcohol use	1/37	OMIM:159900
8910	SGCE	HP:0010531	Spinal myoclonus	HP:0040281	ORPHA:36899
8910	SGCE	HP:0002356	Writer's cramp	HP:0040282	ORPHA:36899
8910	SGCE	HP:0002356	Writer's cramp	21/37	OMIM:159900
8910	SGCE	HP:0003621	Juvenile onset	23/37	OMIM:159900
8910	SGCE	HP:0000756	Agoraphobia	-	OMIM:159900
8910	SGCE	HP:0000739	Anxiety	HP:0040282	ORPHA:36899
8910	SGCE	HP:0000739	Anxiety	1/37	OMIM:159900
8910	SGCE	HP:0000716	Depression	HP:0040282	ORPHA:36899
8910	SGCE	HP:0000716	Depression	-	OMIM:159900
8910	SGCE	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:36899
8910	SGCE	HP:0000722	Compulsive behaviors	1/37	OMIM:159900
8910	SGCE	HP:0011463	Childhood onset	14/37	OMIM:159900
8910	SGCE	HP:0045084	Limb myoclonus	HP:0040281	ORPHA:36899
8910	SGCE	HP:0000473	Torticollis	HP:0040282	ORPHA:36899
8910	SGCE	HP:0000473	Torticollis	37/37	OMIM:159900
8911	CACNA1I	HP:0001250	Seizure	4/6	OMIM:620114
8911	CACNA1I	HP:0001252	Hypotonia	3/6	OMIM:620114
8911	CACNA1I	HP:0001249	Intellectual disability	5/6	OMIM:620114
8911	CACNA1I	HP:0002540	Inability to walk	2/6	OMIM:620114
8911	CACNA1I	HP:0001344	Absent speech	3/4	OMIM:620114
8911	CACNA1I	HP:0000006	Autosomal dominant inheritance	-	OMIM:620114
8911	CACNA1I	HP:0000194	Open mouth	1/6	OMIM:620114
8911	CACNA1I	HP:0002020	Gastroesophageal reflux	1/6	OMIM:620114
8911	CACNA1I	HP:0002079	Hypoplasia of the corpus callosum	1/4	OMIM:620114
8911	CACNA1I	HP:0002188	Delayed CNS myelination	1/4	OMIM:620114
8911	CACNA1I	HP:0010536	Central sleep apnea	1/6	OMIM:620114
8911	CACNA1I	HP:0002267	Exaggerated startle response	1/6	OMIM:620114
8911	CACNA1I	HP:0003596	Middle age onset	1/4	OMIM:620114
8911	CACNA1I	HP:0003593	Infantile onset	1/4	OMIM:620114
8911	CACNA1I	HP:0100704	Cerebral visual impairment	3/6	OMIM:620114
8911	CACNA1I	HP:0011968	Feeding difficulties	3/6	OMIM:620114
8911	CACNA1I	HP:0003623	Neonatal onset	1/4	OMIM:620114
8911	CACNA1I	HP:0002307	Drooling	1/6	OMIM:620114
8911	CACNA1I	HP:0011344	Severe global developmental delay	3/6	OMIM:620114
8911	CACNA1I	HP:0000675	Macrodontia of permanent maxillary central incisor	1/6	OMIM:620114
8911	CACNA1I	HP:0000716	Depression	1/6	OMIM:620114
8911	CACNA1I	HP:0011463	Childhood onset	1/4	OMIM:620114
8911	CACNA1I	HP:0000365	Hearing impairment	2/6	OMIM:620114
8911	CACNA1I	HP:0012471	Thick vermilion border	1/6	OMIM:620114
8911	CACNA1I	HP:0012444	Brain atrophy	1/4	OMIM:620114
8912	CACNA1H	HP:0001249	Intellectual disability	HP:0040283	ORPHA:64280
8912	CACNA1H	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:64280
8912	CACNA1H	HP:0001328	Specific learning disability	HP:0040283	ORPHA:64280
8912	CACNA1H	HP:0000006	Autosomal dominant inheritance	-	OMIM:617027
8912	CACNA1H	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:64280
8912	CACNA1H	HP:0010522	Dyslexia	HP:0040283	ORPHA:64280
8912	CACNA1H	HP:0003593	Infantile onset	1/5	OMIM:617027
8912	CACNA1H	HP:6000318	Elevated aldosterone:renin ratio	5/5	OMIM:617027
8912	CACNA1H	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:64280
8912	CACNA1H	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:64280
8912	CACNA1H	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	HP:0040281	ORPHA:64280
8912	CACNA1H	HP:0010794	Impaired visuospatial constructive cognition	HP:0040283	ORPHA:64280
8912	CACNA1H	HP:0003621	Juvenile onset	3/5	OMIM:617027
8912	CACNA1H	HP:0006961	Jerky head movements	HP:0040284	ORPHA:64280
8912	CACNA1H	HP:0000739	Anxiety	HP:0040283	ORPHA:64280
8912	CACNA1H	HP:0000716	Depression	HP:0040283	ORPHA:64280
8912	CACNA1H	HP:0011463	Childhood onset	1/5	OMIM:617027
8912	CACNA1H	HP:0000859	Increased circulating aldosterone concentration	5/5	OMIM:617027
8912	CACNA1H	HP:0000822	Hypertension	5/5	OMIM:617027
8912	CACNA1H	HP:0045084	Limb myoclonus	HP:0040284	ORPHA:64280
8912	CACNA1H	HP:0000980	Pallor	HP:0040282	ORPHA:64280
8912	CACNA1H	HP:0007738	Uncontrolled eye movements	HP:0040283	ORPHA:64280
8912	CACNA1H	HP:0002883	Hyperventilation	HP:0040283	ORPHA:64280
8912	CACNA1H	HP:0031469	Low self-esteem	HP:0040283	ORPHA:64280
8912	CACNA1H	HP:0011147	Typical absence seizure	HP:0040281	ORPHA:64280
8912	CACNA1H	HP:0011150	Myoclonic absence seizure	HP:0040283	ORPHA:64280
8912	CACNA1H	HP:0030218	Punding	HP:0040283	ORPHA:64280
8912	CACNA1H	HP:0012433	Abnormal social behavior	HP:0040283	ORPHA:64280
8913	CACNA1G	HP:0001152	Saccadic smooth pursuit	HP:0040282	ORPHA:458803
8913	CACNA1G	HP:0001152	Saccadic smooth pursuit	6/15	OMIM:616795
8913	CACNA1G	HP:0002497	Spastic ataxia	-	OMIM:616795
8913	CACNA1G	HP:0001159	Syndactyly	1/4	OMIM:618087
8913	CACNA1G	HP:0003765	Psoriasiform dermatitis	HP:0040283	ORPHA:458803
8913	CACNA1G	HP:0007256	Abnormal pyramidal sign	-	OMIM:616795
8913	CACNA1G	HP:0010862	Delayed fine motor development	4/4	OMIM:618087
8913	CACNA1G	HP:0002421	Poor head control	1/4	OMIM:618087
8913	CACNA1G	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:458803
8913	CACNA1G	HP:0001272	Cerebellar atrophy	-	OMIM:616795
8913	CACNA1G	HP:0001250	Seizure	2/4	OMIM:618087
8913	CACNA1G	HP:0001251	Ataxia	4/4	OMIM:618087
8913	CACNA1G	HP:0001251	Ataxia	15/15	OMIM:616795
8913	CACNA1G	HP:0001249	Intellectual disability	4/4	OMIM:618087
8913	CACNA1G	HP:0001260	Dysarthria	HP:0040281	ORPHA:458803
8913	CACNA1G	HP:0001260	Dysarthria	12/15	OMIM:616795
8913	CACNA1G	HP:0001263	Global developmental delay	4/4	OMIM:618087
8913	CACNA1G	HP:0001257	Spasticity	-	OMIM:618087
8913	CACNA1G	HP:0007366	Atrophy/Degeneration affecting the brainstem	HP:0040283	ORPHA:458803
8913	CACNA1G	HP:0007351	Upper limb postural tremor	HP:0040283	ORPHA:458803
8913	CACNA1G	HP:0002540	Inability to walk	1/4	OMIM:618087
8913	CACNA1G	HP:0002511	Alzheimer disease	HP:0040283	ORPHA:458803
8913	CACNA1G	HP:0002509	Limb hypertonia	2/4	OMIM:618087
8913	CACNA1G	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:458803
8913	CACNA1G	HP:0000020	Urinary incontinence	2/14	OMIM:616795
8913	CACNA1G	HP:0001347	Hyperreflexia	-	OMIM:618087
8913	CACNA1G	HP:0001347	Hyperreflexia	HP:0040283	OMIM:616795
8913	CACNA1G	HP:0031166	Eyelid myokymia	HP:0040282	ORPHA:458803
8913	CACNA1G	HP:0031166	Eyelid myokymia	HP:0040283	OMIM:616795
8913	CACNA1G	HP:0001332	Dystonia	1/4	OMIM:618087
8913	CACNA1G	HP:0000012	Urinary urgency	HP:0040282	ORPHA:458803
8913	CACNA1G	HP:0000012	Urinary urgency	4/14	OMIM:616795
8913	CACNA1G	HP:0001337	Tremor	HP:0040283	OMIM:616795
8913	CACNA1G	HP:0000006	Autosomal dominant inheritance	-	OMIM:618087
8913	CACNA1G	HP:0000006	Autosomal dominant inheritance	-	OMIM:616795
8913	CACNA1G	HP:0001310	Dysmetria	2/2	OMIM:618087
8913	CACNA1G	HP:0002650	Scoliosis	HP:0040283	ORPHA:458803
8913	CACNA1G	HP:0001321	Cerebellar hypoplasia	3/4	OMIM:618087
8913	CACNA1G	HP:0001317	Abnormal cerebellum morphology	HP:0040281	ORPHA:458803
8913	CACNA1G	HP:0008936	Axial hypotonia	4/4	OMIM:618087
8913	CACNA1G	HP:0002015	Dysphagia	HP:0040282	ORPHA:458803
8913	CACNA1G	HP:0002015	Dysphagia	4/15	OMIM:616795
8913	CACNA1G	HP:0100543	Cognitive impairment	-	OMIM:616795
8913	CACNA1G	HP:0002066	Gait ataxia	HP:0040282	ORPHA:458803
8913	CACNA1G	HP:0002064	Spastic gait	HP:0040282	ORPHA:458803
8913	CACNA1G	HP:0002064	Spastic gait	4/13	OMIM:616795
8913	CACNA1G	HP:0003487	Babinski sign	HP:0040282	ORPHA:458803
8913	CACNA1G	HP:0003487	Babinski sign	4/15	OMIM:616795
8913	CACNA1G	HP:0002194	Delayed gross motor development	4/4	OMIM:618087
8913	CACNA1G	HP:0003593	Infantile onset	2/4	OMIM:618087
8913	CACNA1G	HP:0007001	Loss of Purkinje cells in the cerebellar vermis	-	OMIM:616795
8913	CACNA1G	HP:0001007	Hirsutism	1/4	OMIM:618087
8913	CACNA1G	HP:0002346	Head tremor	HP:0040283	ORPHA:458803
8913	CACNA1G	HP:0003677	Slowly progressive	-	OMIM:616795
8913	CACNA1G	HP:0002322	Resting tremor	HP:0040283	ORPHA:458803
8913	CACNA1G	HP:0002321	Vertigo	HP:0040283	ORPHA:458803
8913	CACNA1G	HP:0002317	Unsteady gait	HP:0040281	ORPHA:458803
8913	CACNA1G	HP:0002317	Unsteady gait	19/25	OMIM:616795
8913	CACNA1G	HP:0010841	Multifocal epileptiform discharges	1/4	OMIM:618087
8913	CACNA1G	HP:0003623	Neonatal onset	2/4	OMIM:618087
8913	CACNA1G	HP:0006855	Cerebellar vermis atrophy	HP:0040282	ORPHA:458803
8913	CACNA1G	HP:0006855	Cerebellar vermis atrophy	1/4	OMIM:618087
8913	CACNA1G	HP:0000639	Nystagmus	HP:0040283	ORPHA:458803
8913	CACNA1G	HP:0000651	Diplopia	HP:0040283	ORPHA:458803
8913	CACNA1G	HP:0000651	Diplopia	-	OMIM:616795
8913	CACNA1G	HP:0000657	Oculomotor apraxia	3/4	OMIM:618087
8913	CACNA1G	HP:0000666	Horizontal nystagmus	-	OMIM:616795
8913	CACNA1G	HP:0006938	Impaired vibration sensation at ankles	HP:0040282	ORPHA:458803
8913	CACNA1G	HP:0006938	Impaired vibration sensation at ankles	6/13	OMIM:616795
8913	CACNA1G	HP:0000802	Impotence	HP:0040283	ORPHA:458803
8913	CACNA1G	HP:0000750	Delayed speech and language development	4/4	OMIM:618087
8913	CACNA1G	HP:0012708	Reduced brain N-acetyl aspartate level by MRS	HP:0040283	ORPHA:458803
8913	CACNA1G	HP:0000716	Depression	HP:0040282	ORPHA:458803
8913	CACNA1G	HP:0000716	Depression	13/25	OMIM:616795
8913	CACNA1G	HP:0012759	Neurodevelopmental abnormality	HP:0040281	ORPHA:458803
8913	CACNA1G	HP:0003196	Short nose	1/4	OMIM:618087
8913	CACNA1G	HP:0040080	Anteverted ears	1/4	OMIM:618087
8913	CACNA1G	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040283	ORPHA:458803
8913	CACNA1G	HP:0045025	Narrow palpebral fissure	1/4	OMIM:618087
8913	CACNA1G	HP:0008070	Sparse hair	1/4	OMIM:618087
8913	CACNA1G	HP:0030084	Clinodactyly	2/4	OMIM:618087
8913	CACNA1G	HP:0000252	Microcephaly	1/4	OMIM:618087
8913	CACNA1G	HP:0000316	Hypertelorism	1/4	OMIM:618087
8913	CACNA1G	HP:0000303	Mandibular prognathia	1/4	OMIM:618087
8913	CACNA1G	HP:0007979	Gaze-evoked horizontal nystagmus	HP:0040282	ORPHA:458803
8913	CACNA1G	HP:0000486	Strabismus	3/4	OMIM:618087
8913	CACNA1G	HP:0000486	Strabismus	HP:0040283	ORPHA:458803
8913	CACNA1G	HP:0000490	Deeply set eye	1/4	OMIM:618087
8913	CACNA1G	HP:0012434	Delayed early-childhood social milestone development	4/4	OMIM:618087
8913	CACNA1G	HP:0000582	Upslanted palpebral fissure	1/4	OMIM:618087
8913	CACNA1G	HP:0000571	Hypometric saccades	HP:0040283	ORPHA:458803
8913	CACNA1G	HP:0000540	Hypermetropia	1/4	OMIM:618087
8914	TIMELESS	HP:0000006	Autosomal dominant inheritance	-	OMIM:620015
8914	TIMELESS	HP:0031873	Early chronotype	2/2	OMIM:620015
8915	BCL10	HP:0003745	Sporadic	-	OMIM:273300
8915	BCL10	HP:0001250	Seizure	1/1	OMIM:616098
8915	BCL10	HP:0002583	Colitis	1/1	OMIM:616098
8915	BCL10	HP:0000027	Azoospermia	-	OMIM:273300
8915	BCL10	HP:0000007	Autosomal recessive inheritance	-	OMIM:616098
8915	BCL10	HP:0002665	Lymphoma	-	OMIM:605027
8915	BCL10	HP:0012191	B-cell lymphoma	HP:0040281	ORPHA:52417
8915	BCL10	HP:0012123	Posterior uveitis	HP:0040283	ORPHA:52417
8915	BCL10	HP:0006254	Elevated circulating alpha-fetoprotein concentration	-	OMIM:273300
8915	BCL10	HP:0001442	Typified by somatic mosaicism	-	OMIM:137245
8915	BCL10	HP:0001442	Typified by somatic mosaicism	-	OMIM:273300
8915	BCL10	HP:0001442	Typified by somatic mosaicism	-	OMIM:156240
8915	BCL10	HP:0002719	Recurrent infections	1/1	OMIM:616098
8915	BCL10	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:52417
8915	BCL10	HP:0002721	Immunodeficiency	-	OMIM:616098
8915	BCL10	HP:0002019	Constipation	HP:0040282	ORPHA:52417
8915	BCL10	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:52417
8915	BCL10	HP:0002027	Abdominal pain	HP:0040283	ORPHA:52417
8915	BCL10	HP:0002133	Status epilepticus	1/1	OMIM:616098
8915	BCL10	HP:0002113	Pulmonary infiltrates	HP:0040281	ORPHA:52417
8915	BCL10	HP:0003593	Infantile onset	1/1	OMIM:616098
8915	BCL10	HP:0003581	Adult onset	-	OMIM:137245
8915	BCL10	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:52417
8915	BCL10	HP:0100768	Choriocarcinoma	-	OMIM:273300
8915	BCL10	HP:0100721	Mediastinal lymphadenopathy	HP:0040283	ORPHA:52417
8915	BCL10	HP:0002383	Infectious encephalitis	1/1	OMIM:616098
8915	BCL10	HP:0009792	Teratoma	-	OMIM:273300
8915	BCL10	HP:0000614	Abnormal nasolacrimal system morphology	HP:0040283	ORPHA:52417
8915	BCL10	HP:0001945	Fever	HP:0040281	ORPHA:52417
8915	BCL10	HP:0001903	Anemia	HP:0040281	ORPHA:52417
8915	BCL10	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:616098
8915	BCL10	HP:0100001	Malignant mesothelioma	-	OMIM:156240
8915	BCL10	HP:0000820	Abnormality of the thyroid gland	HP:0040283	ORPHA:52417
8915	BCL10	HP:0045038	Gastric lymphoma	-	OMIM:137245
8915	BCL10	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:52417
8915	BCL10	HP:0002898	Embryonal neoplasm	-	OMIM:273300
8915	BCL10	HP:0012378	Fatigue	HP:0040281	ORPHA:52417
8915	BCL10	HP:0410388	Decreased proportion of central memory CD4-positive T cells	1/1	OMIM:616098
8915	BCL10	HP:0001824	Weight loss	HP:0040281	ORPHA:52417
8915	BCL10	HP:0000505	Visual impairment	HP:0040283	ORPHA:52417
8924	HERC2	HP:0001159	Syndactyly	HP:0040283	OMIM:176270
8924	HERC2	HP:0007328	Impaired pain sensation	HP:0040282	OMIM:176270
8924	HERC2	HP:0003745	Sporadic	-	OMIM:176270
8924	HERC2	HP:0001290	Generalized hypotonia	HP:0040281	OMIM:176270
8924	HERC2	HP:0001290	Generalized hypotonia	-	OMIM:615516
8924	HERC2	HP:0001270	Motor delay	HP:0040281	OMIM:176270
8924	HERC2	HP:0001250	Seizure	31/154	OMIM:176270
8924	HERC2	HP:0001250	Seizure	HP:0040283	OMIM:615516
8924	HERC2	HP:0001249	Intellectual disability	12/12	OMIM:176270
8924	HERC2	HP:0001249	Intellectual disability	7/7	OMIM:615516
8924	HERC2	HP:0002591	Polyphagia	105/165	OMIM:176270
8924	HERC2	HP:0001263	Global developmental delay	HP:0040281	OMIM:176270
8924	HERC2	HP:0001263	Global developmental delay	7/7	OMIM:615516
8924	HERC2	HP:0001262	Excessive daytime somnolence	8/12	OMIM:176270
8924	HERC2	HP:0000064	Hypoplastic labia minora	HP:0040282	OMIM:176270
8924	HERC2	HP:0000060	Clitoral hypoplasia	HP:0040282	OMIM:176270
8924	HERC2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	OMIM:176270
8924	HERC2	HP:0000046	Small scrotum	-	OMIM:176270
8924	HERC2	HP:0000054	Micropenis	HP:0040282	OMIM:176270
8924	HERC2	HP:0001385	Hip dysplasia	27/90	OMIM:176270
8924	HERC2	HP:0001357	Plagiocephaly	-	OMIM:615516
8924	HERC2	HP:0000028	Cryptorchidism	118/130	OMIM:176270
8924	HERC2	HP:0008872	Feeding difficulties in infancy	HP:0040281	OMIM:176270
8924	HERC2	HP:0007513	Generalized hypopigmentation	-	OMIM:176270
8924	HERC2	HP:0001328	Specific learning disability	HP:0040281	OMIM:176270
8924	HERC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615516
8924	HERC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:176270
8924	HERC2	HP:0002650	Scoliosis	150/180	OMIM:176270
8924	HERC2	HP:0001319	Neonatal hypotonia	4/7	OMIM:615516
8924	HERC2	HP:0001319	Neonatal hypotonia	244/244	OMIM:176270
8924	HERC2	HP:0000189	Narrow palate	-	OMIM:615516
8924	HERC2	HP:0002791	Hypoventilation	-	OMIM:176270
8924	HERC2	HP:0002714	Downturned corners of mouth	HP:0040282	OMIM:176270
8924	HERC2	HP:0002033	Poor suck	HP:0040281	OMIM:176270
8924	HERC2	HP:0005968	Temperature instability	HP:0040283	OMIM:176270
8924	HERC2	HP:0005978	Type II diabetes mellitus	12/82	OMIM:176270
8924	HERC2	HP:0030919	Low 5-minute APGAR score	14/244	OMIM:176270
8924	HERC2	HP:0030918	Low 1-minute APGAR score	55/244	OMIM:176270
8924	HERC2	HP:0009466	Radial deviation of finger	HP:0040283	OMIM:176270
8924	HERC2	HP:0002155	Hypertriglyceridemia	10/66	OMIM:176270
8924	HERC2	HP:0002119	Ventriculomegaly	HP:0040282	OMIM:176270
8924	HERC2	HP:0010535	Sleep apnea	HP:0040282	OMIM:176270
8924	HERC2	HP:0010529	Echolalia	-	OMIM:615516
8924	HERC2	HP:0003593	Infantile onset	-	OMIM:615516
8924	HERC2	HP:0003577	Congenital onset	98/244	OMIM:176270
8924	HERC2	HP:0002236	Frontal upsweep of hair	HP:0040283	OMIM:176270
8924	HERC2	HP:0100716	Self-injurious behavior	50/62	OMIM:176270
8924	HERC2	HP:0002205	Recurrent respiratory infections	HP:0040282	OMIM:176270
8924	HERC2	HP:0007010	Poor fine motor coordination	HP:0040283	OMIM:176270
8924	HERC2	HP:0007015	Poor gross motor coordination	-	OMIM:176270
8924	HERC2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	OMIM:176270
8924	HERC2	HP:0002360	Sleep abnormality	HP:0040282	OMIM:176270
8924	HERC2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2/7	OMIM:615516
8924	HERC2	HP:0002317	Unsteady gait	6/7	OMIM:615516
8924	HERC2	HP:0200055	Small hand	-	OMIM:176270
8924	HERC2	HP:0033454	Tube feeding	216/244	OMIM:176270
8924	HERC2	HP:0031878	Acromicria	-	OMIM:176270
8924	HERC2	HP:0004283	Narrow palm	HP:0040281	OMIM:176270
8924	HERC2	HP:0004279	Short palm	HP:0040281	OMIM:176270
8924	HERC2	HP:0000635	Blue irides	-	OMIM:615516
8924	HERC2	HP:0000670	Carious teeth	HP:0040283	OMIM:176270
8924	HERC2	HP:0004322	Short stature	HP:0040281	OMIM:176270
8924	HERC2	HP:0031987	Diminished ability to concentrate	-	OMIM:615516
8924	HERC2	HP:0031936	Delayed ability to walk	7/7	OMIM:615516
8924	HERC2	HP:0012743	Abdominal obesity	-	OMIM:176270
8924	HERC2	HP:0000752	Hyperactivity	-	OMIM:615516
8924	HERC2	HP:0100023	Recurrent hand flapping	-	OMIM:615516
8924	HERC2	HP:0000750	Delayed speech and language development	HP:0040281	OMIM:176270
8924	HERC2	HP:0000750	Delayed speech and language development	7/7	OMIM:615516
8924	HERC2	HP:0000742	Self-mutilation	4/7	OMIM:615516
8924	HERC2	HP:0000718	Aggressive behavior	-	OMIM:615516
8924	HERC2	HP:0000717	Autism	210/786	OMIM:176270
8924	HERC2	HP:0000729	Autistic behavior	6/7	OMIM:615516
8924	HERC2	HP:0000709	Psychosis	18/92	OMIM:176270
8924	HERC2	HP:0000708	Atypical behavior	HP:0040282	OMIM:176270
8924	HERC2	HP:0011461	Fetal onset	146/244	OMIM:176270
8924	HERC2	HP:0000789	Infertility	HP:0040281	OMIM:176270
8924	HERC2	HP:0000786	Primary amenorrhea	1/7	OMIM:176270
8924	HERC2	HP:0003124	Hypercholesterolemia	42/66	OMIM:176270
8924	HERC2	HP:0003199	Decreased muscle mass	HP:0040282	OMIM:176270
8924	HERC2	HP:0000876	Oligomenorrhea	HP:0040282	OMIM:176270
8924	HERC2	HP:0000846	Adrenal insufficiency	1/82	OMIM:176270
8924	HERC2	HP:0000842	Hyperinsulinemia	-	OMIM:176270
8924	HERC2	HP:0000826	Precocious puberty	-	OMIM:176270
8924	HERC2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040281	OMIM:176270
8924	HERC2	HP:0000823	Delayed puberty	HP:0040282	OMIM:176270
8924	HERC2	HP:0003233	Decreased HDL cholesterol concentration	23/66	OMIM:176270
8924	HERC2	HP:0003241	External genital hypoplasia	HP:0040281	OMIM:176270
8924	HERC2	HP:0000992	Cutaneous photosensitivity	HP:0040282	OMIM:176270
8924	HERC2	HP:0000969	Edema	9/12	OMIM:176270
8924	HERC2	HP:0000939	Osteoporosis	2/12	OMIM:176270
8924	HERC2	HP:0000938	Osteopenia	HP:0040283	OMIM:176270
8924	HERC2	HP:0000268	Dolichocephaly	-	OMIM:176270
8924	HERC2	HP:0030084	Clinodactyly	-	OMIM:176270
8924	HERC2	HP:0002808	Kyphosis	HP:0040282	OMIM:176270
8924	HERC2	HP:0000219	Thin upper lip vermilion	15/20	OMIM:176270
8924	HERC2	HP:0001562	Oligohydramnios	16/244	OMIM:176270
8924	HERC2	HP:0001561	Polyhydramnios	57/244	OMIM:176270
8924	HERC2	HP:0001558	Decreased fetal movement	146/244	OMIM:176270
8924	HERC2	HP:0025501	Class III obesity	90/165	OMIM:176270
8924	HERC2	HP:0001531	Failure to thrive in infancy	HP:0040281	OMIM:176270
8924	HERC2	HP:0002857	Genu valgum	-	OMIM:176270
8924	HERC2	HP:0001511	Intrauterine growth retardation	50/244	OMIM:176270
8924	HERC2	HP:0001513	Obesity	85/180	OMIM:176270
8924	HERC2	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	OMIM:176270
8924	HERC2	HP:0001611	Hypernasal speech	HP:0040282	OMIM:176270
8924	HERC2	HP:0000341	Narrow forehead	HP:0040282	OMIM:176270
8924	HERC2	HP:0001623	Breech presentation	70/244	OMIM:176270
8924	HERC2	HP:0000303	Mandibular prognathia	-	OMIM:615516
8924	HERC2	HP:0000486	Strabismus	-	OMIM:176270
8924	HERC2	HP:0000486	Strabismus	-	OMIM:615516
8924	HERC2	HP:0012450	Chronic constipation	5/12	OMIM:176270
8924	HERC2	HP:0001773	Short foot	HP:0040281	OMIM:176270
8924	HERC2	HP:0000446	Narrow nasal bridge	HP:0040282	OMIM:176270
8924	HERC2	HP:0001852	Sandal gap	-	OMIM:615516
8924	HERC2	HP:0000582	Upslanted palpebral fissure	HP:0040283	OMIM:176270
8924	HERC2	HP:0000565	Esotropia	HP:0040283	OMIM:176270
8924	HERC2	HP:0000540	Hypermetropia	-	OMIM:176270
8924	HERC2	HP:0000545	Myopia	HP:0040283	OMIM:176270
8925	HERC1	HP:0001176	Large hands	2/2	OMIM:617011
8925	HERC1	HP:0001166	Arachnodactyly	-	OMIM:617011
8925	HERC1	HP:0001166	Arachnodactyly	HP:0040281	ORPHA:457359
8925	HERC1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:457359
8925	HERC1	HP:0001272	Cerebellar atrophy	HP:0040283	OMIM:617011
8925	HERC1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:457359
8925	HERC1	HP:0001250	Seizure	1/2	OMIM:617011
8925	HERC1	HP:0001252	Hypotonia	2/2	OMIM:617011
8925	HERC1	HP:0001252	Hypotonia	HP:0040281	ORPHA:457359
8925	HERC1	HP:0001249	Intellectual disability	2/2	OMIM:617011
8925	HERC1	HP:0001263	Global developmental delay	2/2	OMIM:617011
8925	HERC1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:457359
8925	HERC1	HP:0000098	Tall stature	2/2	OMIM:617011
8925	HERC1	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:457359
8925	HERC1	HP:0000054	Micropenis	HP:0040283	ORPHA:457359
8925	HERC1	HP:0001382	Joint hypermobility	2/2	OMIM:617011
8925	HERC1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:457359
8925	HERC1	HP:0001355	Megalencephaly	HP:0040282	ORPHA:457359
8925	HERC1	HP:0001355	Megalencephaly	1/2	OMIM:617011
8925	HERC1	HP:0001344	Absent speech	-	OMIM:617011
8925	HERC1	HP:0001344	Absent speech	HP:0040282	ORPHA:457359
8925	HERC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617011
8925	HERC1	HP:0001334	Communicating hydrocephalus	HP:0040283	ORPHA:457359
8925	HERC1	HP:0001334	Communicating hydrocephalus	1/2	OMIM:617011
8925	HERC1	HP:0002650	Scoliosis	2/2	OMIM:617011
8925	HERC1	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:457359
8925	HERC1	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:457359
8925	HERC1	HP:0002007	Frontal bossing	2/2	OMIM:617011
8925	HERC1	HP:0003307	Hyperlordosis	2/2	OMIM:617011
8925	HERC1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:457359
8925	HERC1	HP:0002066	Gait ataxia	2/2	OMIM:617011
8925	HERC1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:457359
8925	HERC1	HP:0002120	Cerebral cortical atrophy	1/2	OMIM:617011
8925	HERC1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:457359
8925	HERC1	HP:0002119	Ventriculomegaly	1/2	OMIM:617011
8925	HERC1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:457359
8925	HERC1	HP:0003577	Congenital onset	2/2	OMIM:617011
8925	HERC1	HP:0007074	Thick corpus callosum	HP:0040283	ORPHA:457359
8925	HERC1	HP:0007074	Thick corpus callosum	HP:0040283	OMIM:617011
8925	HERC1	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:457359
8925	HERC1	HP:0002307	Drooling	HP:0040282	ORPHA:457359
8925	HERC1	HP:0006863	Severe expressive language delay	HP:0040283	ORPHA:457359
8925	HERC1	HP:0011330	Metopic synostosis	HP:0040283	ORPHA:457359
8925	HERC1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:457359
8925	HERC1	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:457359
8925	HERC1	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:457359
8925	HERC1	HP:0045075	Sparse eyebrow	2/2	OMIM:617011
8925	HERC1	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:457359
8925	HERC1	HP:0000297	Facial hypotonia	HP:0040283	ORPHA:457359
8925	HERC1	HP:0000256	Macrocephaly	2/2	OMIM:617011
8925	HERC1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:457359
8925	HERC1	HP:0000276	Long face	2/2	OMIM:617011
8925	HERC1	HP:0000276	Long face	HP:0040281	ORPHA:457359
8925	HERC1	HP:0000272	Malar flattening	-	OMIM:617011
8925	HERC1	HP:0000272	Malar flattening	HP:0040283	ORPHA:457359
8925	HERC1	HP:0002808	Kyphosis	2/2	OMIM:617011
8925	HERC1	HP:0002808	Kyphosis	HP:0040283	ORPHA:457359
8925	HERC1	HP:0001548	Overgrowth	HP:0040281	ORPHA:457359
8925	HERC1	HP:0000218	High palate	2/2	OMIM:617011
8925	HERC1	HP:0000218	High palate	HP:0040282	ORPHA:457359
8925	HERC1	HP:0001555	Asymmetry of the thorax	HP:0040283	ORPHA:457359
8925	HERC1	HP:0001533	Slender build	HP:0040282	ORPHA:457359
8925	HERC1	HP:0001520	Large for gestational age	2/2	OMIM:617011
8925	HERC1	HP:0001520	Large for gestational age	HP:0040282	ORPHA:457359
8925	HERC1	HP:0001519	Disproportionate tall stature	2/2	OMIM:617011
8925	HERC1	HP:0001519	Disproportionate tall stature	HP:0040282	ORPHA:457359
8925	HERC1	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:457359
8925	HERC1	HP:0000358	Posteriorly rotated ears	-	OMIM:617011
8925	HERC1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:457359
8925	HERC1	HP:0011003	High myopia	HP:0040283	ORPHA:457359
8925	HERC1	HP:0000369	Low-set ears	-	OMIM:617011
8925	HERC1	HP:0000316	Hypertelorism	2/2	OMIM:617011
8925	HERC1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:457359
8925	HERC1	HP:0000325	Triangular face	2/2	OMIM:617011
8925	HERC1	HP:0000325	Triangular face	HP:0040283	ORPHA:457359
8925	HERC1	HP:0000303	Mandibular prognathia	2/2	OMIM:617011
8925	HERC1	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:457359
8925	HERC1	HP:0000400	Macrotia	2/2	OMIM:617011
8925	HERC1	HP:0000400	Macrotia	HP:0040282	ORPHA:457359
8925	HERC1	HP:0000494	Downslanted palpebral fissures	2/2	OMIM:617011
8925	HERC1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:457359
8925	HERC1	HP:0000472	Long neck	HP:0040283	ORPHA:457359
8925	HERC1	HP:0000472	Long neck	2/2	OMIM:617011
8925	HERC1	HP:0001763	Pes planus	2/2	OMIM:617011
8925	HERC1	HP:0001763	Pes planus	HP:0040283	ORPHA:457359
8925	HERC1	HP:0000426	Prominent nasal bridge	2/2	OMIM:617011
8925	HERC1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:457359
8925	HERC1	HP:0000520	Proptosis	-	OMIM:617011
8925	HERC1	HP:0000520	Proptosis	HP:0040282	ORPHA:457359
8925	HERC1	HP:0001833	Long foot	HP:0040282	ORPHA:457359
8925	HERC1	HP:0001833	Long foot	-	OMIM:617011
8925	HERC1	HP:0000582	Upslanted palpebral fissure	-	OMIM:617011
8925	HERC1	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:457359
8925	HERC1	HP:0011229	Broad eyebrow	HP:0040281	ORPHA:457359
8925	HERC1	HP:0000586	Shallow orbits	HP:0040283	ORPHA:457359
8925	HERC1	HP:0011220	Prominent forehead	-	OMIM:617011
8925	HERC1	HP:0011220	Prominent forehead	HP:0040281	ORPHA:457359
8928	FOXH1	HP:0002465	Poor speech	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0002465	Poor speech	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0002465	Poor speech	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0002465	Poor speech	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0002474	Expressive language delay	HP:0040282	ORPHA:280195
8928	FOXH1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0002451	Limb dystonia	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0009932	Single naris	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0009932	Single naris	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0009932	Single naris	HP:0040284	ORPHA:93924
8928	FOXH1	HP:0009932	Single naris	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0009914	Cyclopia	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0009914	Cyclopia	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0009914	Cyclopia	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0009914	Cyclopia	HP:0040284	ORPHA:93924
8928	FOXH1	HP:0009914	Cyclopia	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0002418	Abnormal midbrain morphology	HP:0040282	ORPHA:280195
8928	FOXH1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:280195
8928	FOXH1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:280195
8928	FOXH1	HP:0001254	Lethargy	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0001254	Lethargy	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0001254	Lethargy	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0001254	Lethargy	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0001250	Seizure	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0001250	Seizure	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0001250	Seizure	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0001250	Seizure	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0001250	Seizure	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280195
8928	FOXH1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280200
8928	FOXH1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0001257	Spasticity	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0001257	Spasticity	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0001257	Spasticity	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0001257	Spasticity	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0007375	Abnormal septum pellucidum morphology	HP:0040283	ORPHA:280195
8928	FOXH1	HP:0007330	Frontoethmoidal encephalocele	HP:0040283	ORPHA:280195
8928	FOXH1	HP:0002540	Inability to walk	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0002540	Inability to walk	HP:0040284	ORPHA:93924
8928	FOXH1	HP:0002540	Inability to walk	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0002540	Inability to walk	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0001371	Flexion contracture	HP:0040284	ORPHA:93924
8928	FOXH1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0001355	Megalencephaly	HP:0040283	ORPHA:280195
8928	FOXH1	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:280195
8928	FOXH1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0001344	Absent speech	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0001344	Absent speech	HP:0040284	ORPHA:93924
8928	FOXH1	HP:0001344	Absent speech	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0001344	Absent speech	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
8928	FOXH1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0002650	Scoliosis	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0002650	Scoliosis	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0000175	Cleft palate	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0000175	Cleft palate	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:280200
8928	FOXH1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0006315	Solitary median maxillary central incisor	HP:0040284	ORPHA:93924
8928	FOXH1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0008947	Floppy infant	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0008947	Floppy infant	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0008947	Floppy infant	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0008947	Floppy infant	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:280195
8928	FOXH1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0002793	Abnormal pattern of respiration	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0000104	Renal agenesis	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0002019	Constipation	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0002019	Constipation	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0002019	Constipation	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0002019	Constipation	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0002033	Poor suck	HP:0040281	ORPHA:93926
8928	FOXH1	HP:0002033	Poor suck	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0002033	Poor suck	HP:0040281	ORPHA:93925
8928	FOXH1	HP:0002033	Poor suck	HP:0040281	ORPHA:220386
8928	FOXH1	HP:0002015	Dysphagia	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0002015	Dysphagia	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0002015	Dysphagia	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0002015	Dysphagia	HP:0040283	ORPHA:280195
8928	FOXH1	HP:0002015	Dysphagia	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0002013	Vomiting	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0002013	Vomiting	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0002013	Vomiting	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0002013	Vomiting	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0005968	Temperature instability	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0005968	Temperature instability	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0005968	Temperature instability	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0005968	Temperature instability	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0002099	Asthma	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280195
8928	FOXH1	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0100710	Impulsivity	HP:0040282	ORPHA:280195
8928	FOXH1	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0010654	Aplasia of the falx cerebri	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0010644	Midnasal stenosis	HP:0040281	ORPHA:280200
8928	FOXH1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93926
8928	FOXH1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93924
8928	FOXH1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93925
8928	FOXH1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:220386
8928	FOXH1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0001028	Hemangioma	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:280200
8928	FOXH1	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
8928	FOXH1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0000601	Hypotelorism	HP:0040282	ORPHA:280200
8928	FOXH1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93926
8928	FOXH1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93924
8928	FOXH1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93925
8928	FOXH1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:220386
8928	FOXH1	HP:0012650	Perisylvian polymicrogyria	HP:0040283	ORPHA:280195
8928	FOXH1	HP:0004322	Short stature	HP:0040281	ORPHA:220386
8928	FOXH1	HP:0004322	Short stature	HP:0040282	ORPHA:280200
8928	FOXH1	HP:0004322	Short stature	HP:0040281	ORPHA:93926
8928	FOXH1	HP:0004322	Short stature	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0004322	Short stature	HP:0040281	ORPHA:93925
8928	FOXH1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0031913	Rhombencephalosynapsis	HP:0040283	ORPHA:280195
8928	FOXH1	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:280195
8928	FOXH1	HP:0000737	Irritability	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0000737	Irritability	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0000737	Irritability	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0000737	Irritability	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0000739	Anxiety	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0000739	Anxiety	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0000739	Anxiety	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0000739	Anxiety	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0000736	Short attention span	HP:0040282	ORPHA:280195
8928	FOXH1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0000741	Apathy	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0000741	Apathy	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0000741	Apathy	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0000741	Apathy	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0000716	Depression	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0000716	Depression	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0000716	Depression	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0000716	Depression	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:280195
8928	FOXH1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0003196	Short nose	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0004467	Preauricular pit	-	OMIM:187500
8928	FOXH1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0000873	Diabetes insipidus	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0000863	Central diabetes insipidus	HP:0040282	ORPHA:280195
8928	FOXH1	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:280195
8928	FOXH1	HP:0012806	Proboscis	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0012806	Proboscis	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0012806	Proboscis	HP:0040284	ORPHA:93924
8928	FOXH1	HP:0012806	Proboscis	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0000826	Precocious puberty	HP:0040282	ORPHA:280195
8928	FOXH1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0045005	Neural tube defect	HP:0040284	ORPHA:93924
8928	FOXH1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0000252	Microcephaly	HP:0040283	ORPHA:280195
8928	FOXH1	HP:0000252	Microcephaly	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0000252	Microcephaly	HP:0040282	ORPHA:280200
8928	FOXH1	HP:0000252	Microcephaly	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0000252	Microcephaly	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0000252	Microcephaly	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0000218	High palate	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0000218	High palate	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0000218	High palate	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0000218	High palate	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:280195
8928	FOXH1	HP:0002871	Central apnea	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0002871	Central apnea	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0002871	Central apnea	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0002871	Central apnea	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93926
8928	FOXH1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93925
8928	FOXH1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:220386
8928	FOXH1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:280200
8928	FOXH1	HP:0001510	Growth delay	HP:0040281	ORPHA:93926
8928	FOXH1	HP:0001510	Growth delay	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0001510	Growth delay	HP:0040281	ORPHA:93925
8928	FOXH1	HP:0001510	Growth delay	HP:0040281	ORPHA:220386
8928	FOXH1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0000337	Broad forehead	-	OMIM:187500
8928	FOXH1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:280195
8928	FOXH1	HP:0000322	Short philtrum	HP:0040282	ORPHA:280200
8928	FOXH1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93926
8928	FOXH1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93924
8928	FOXH1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93925
8928	FOXH1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:220386
8928	FOXH1	HP:0001622	Premature birth	HP:0040282	ORPHA:280200
8928	FOXH1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
8928	FOXH1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0000486	Strabismus	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93926
8928	FOXH1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93925
8928	FOXH1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:220386
8928	FOXH1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:280200
8928	FOXH1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93926
8928	FOXH1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93924
8928	FOXH1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93925
8928	FOXH1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:220386
8928	FOXH1	HP:0000453	Choanal atresia	HP:0040281	ORPHA:280200
8928	FOXH1	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:280200
8928	FOXH1	HP:0000520	Proptosis	-	OMIM:187500
8929	PHOX2B	HP:0001250	Seizure	HP:0040282	ORPHA:99803
8929	PHOX2B	HP:0001250	Seizure	HP:0040283	ORPHA:661
8929	PHOX2B	HP:0001250	Seizure	HP:0040281	ORPHA:2151
8929	PHOX2B	HP:0001252	Hypotonia	HP:0040282	ORPHA:99803
8929	PHOX2B	HP:0001252	Hypotonia	HP:0040283	ORPHA:661
8929	PHOX2B	HP:0001251	Ataxia	HP:0040284	ORPHA:635
8929	PHOX2B	HP:0001249	Intellectual disability	HP:0040282	ORPHA:99803
8929	PHOX2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:613013
8929	PHOX2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:209880
8929	PHOX2B	HP:0001336	Myoclonus	HP:0040284	ORPHA:635
8929	PHOX2B	HP:0002653	Bone pain	HP:0040283	ORPHA:635
8929	PHOX2B	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:635
8929	PHOX2B	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:635
8929	PHOX2B	HP:0002791	Hypoventilation	20/20	OMIM:209880
8929	PHOX2B	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:635
8929	PHOX2B	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:635
8929	PHOX2B	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:99803
8929	PHOX2B	HP:0002028	Chronic diarrhea	HP:0040282	ORPHA:635
8929	PHOX2B	HP:0003334	Elevated circulating catecholamine level	HP:0040282	ORPHA:635
8929	PHOX2B	HP:0005957	Breathing dysregulation	HP:0040281	ORPHA:99803
8929	PHOX2B	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:661
8929	PHOX2B	HP:0002098	Respiratory distress	HP:0040283	ORPHA:635
8929	PHOX2B	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:661
8929	PHOX2B	HP:0002104	Apnea	-	OMIM:209880
8929	PHOX2B	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:635
8929	PHOX2B	HP:0010543	Opsoclonus	HP:0040284	ORPHA:635
8929	PHOX2B	HP:0010536	Central sleep apnea	HP:0040281	ORPHA:99803
8929	PHOX2B	HP:0003593	Infantile onset	8/10	OMIM:209880
8929	PHOX2B	HP:0002277	Horner syndrome	HP:0040283	ORPHA:635
8929	PHOX2B	HP:0002270	Abnormality of the autonomic nervous system	HP:0040281	ORPHA:661
8929	PHOX2B	HP:0003577	Congenital onset	24/27	OMIM:209880
8929	PHOX2B	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:661
8929	PHOX2B	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:99803
8929	PHOX2B	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:2151
8929	PHOX2B	HP:0002251	Aganglionic megacolon	17/57	OMIM:209880
8929	PHOX2B	HP:0002251	Aganglionic megacolon	HP:0040283	OMIM:613013
8929	PHOX2B	HP:0011976	Elevated urinary catecholamine level	HP:0040281	ORPHA:635
8929	PHOX2B	HP:0011977	Elevated urinary homovanillic acid	HP:0040283	ORPHA:635
8929	PHOX2B	HP:0011978	Elevated urinary vanillylmandelic acid	HP:0040283	ORPHA:635
8929	PHOX2B	HP:0011968	Feeding difficulties	-	OMIM:209880
8929	PHOX2B	HP:0001017	Anemic pallor	HP:0040283	ORPHA:635
8929	PHOX2B	HP:0007110	Central hypoventilation	27/27	OMIM:209880
8929	PHOX2B	HP:0007110	Central hypoventilation	HP:0040281	ORPHA:99803
8929	PHOX2B	HP:0003623	Neonatal onset	2/10	OMIM:209880
8929	PHOX2B	HP:0031857	Ineffective esophageal peristalsis	4/20	OMIM:209880
8929	PHOX2B	HP:0031861	Decreased heart rate variability	14/16	OMIM:209880
8929	PHOX2B	HP:0000615	Abnormal pupil morphology	HP:0040281	ORPHA:2151
8929	PHOX2B	HP:0001945	Fever	HP:0040282	ORPHA:635
8929	PHOX2B	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:635
8929	PHOX2B	HP:0001903	Anemia	HP:0040282	ORPHA:635
8929	PHOX2B	HP:0031955	Antalgic gait	HP:0040283	ORPHA:635
8929	PHOX2B	HP:0003005	Ganglioneuroma	5%	OMIM:613013
8929	PHOX2B	HP:0003005	Ganglioneuroma	HP:0040283	ORPHA:661
8929	PHOX2B	HP:0003005	Ganglioneuroma	HP:0040283	ORPHA:99803
8929	PHOX2B	HP:0003005	Ganglioneuroma	-	OMIM:209880
8929	PHOX2B	HP:0004375	Neoplasm of the nervous system	HP:0040281	ORPHA:2151
8929	PHOX2B	HP:0004375	Neoplasm of the nervous system	HP:0040281	ORPHA:635
8929	PHOX2B	HP:0004370	Abnormality of temperature regulation	-	OMIM:209880
8929	PHOX2B	HP:0003006	Neuroblastoma	1/20	OMIM:209880
8929	PHOX2B	HP:0003006	Neuroblastoma	5%	OMIM:613013
8929	PHOX2B	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:661
8929	PHOX2B	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:99803
8929	PHOX2B	HP:0003006	Neuroblastoma	HP:0040281	ORPHA:635
8929	PHOX2B	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:661
8929	PHOX2B	HP:0000737	Irritability	HP:0040283	ORPHA:635
8929	PHOX2B	HP:0000822	Hypertension	HP:0040284	ORPHA:635
8929	PHOX2B	HP:0003270	Abdominal distention	HP:0040282	ORPHA:635
8929	PHOX2B	HP:0003281	Increased circulating ferritin concentration	HP:0040283	ORPHA:635
8929	PHOX2B	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:2151
8929	PHOX2B	HP:0000975	Hyperhidrosis	-	OMIM:209880
8929	PHOX2B	HP:0011675	Arrhythmia	HP:0040281	ORPHA:2151
8929	PHOX2B	HP:0025553	Periorbital ecchymosis with tarsal plate sparing	HP:0040284	ORPHA:635
8929	PHOX2B	HP:0002877	Nocturnal hypoventilation	10/10	OMIM:209880
8929	PHOX2B	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:99803
8929	PHOX2B	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:99803
8929	PHOX2B	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:99803
8929	PHOX2B	HP:0001522	Death in infancy	HP:0040282	ORPHA:99803
8929	PHOX2B	HP:0001508	Failure to thrive	HP:0040281	ORPHA:99803
8929	PHOX2B	HP:0001518	Small for gestational age	HP:0040281	ORPHA:99803
8929	PHOX2B	HP:0031500	Abdominal mass	HP:0040282	ORPHA:635
8929	PHOX2B	HP:0012378	Fatigue	HP:0040282	ORPHA:635
8929	PHOX2B	HP:0000358	Posteriorly rotated ears	-	OMIM:209880
8929	PHOX2B	HP:0000369	Low-set ears	-	OMIM:209880
8929	PHOX2B	HP:0012332	Abnormal autonomic nervous system physiology	-	OMIM:209880
8929	PHOX2B	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040281	ORPHA:99803
8929	PHOX2B	HP:0001657	Prolonged QT interval	HP:0040281	ORPHA:2151
8929	PHOX2B	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:99803
8929	PHOX2B	HP:0000486	Strabismus	HP:0040281	ORPHA:99803
8929	PHOX2B	HP:0000494	Downslanted palpebral fissures	-	OMIM:209880
8929	PHOX2B	HP:0012450	Chronic constipation	5/30	OMIM:209880
8929	PHOX2B	HP:0012416	Hypercapnia	-	OMIM:209880
8929	PHOX2B	HP:0012418	Hypoxemia	-	OMIM:209880
8929	PHOX2B	HP:0006747	Ganglioneuroblastoma	5%	OMIM:613013
8929	PHOX2B	HP:0006747	Ganglioneuroblastoma	HP:0040283	ORPHA:661
8929	PHOX2B	HP:0006747	Ganglioneuroblastoma	HP:0040281	ORPHA:2151
8929	PHOX2B	HP:0006747	Ganglioneuroblastoma	1/20	OMIM:209880
8929	PHOX2B	HP:0000520	Proptosis	HP:0040283	ORPHA:635
8929	PHOX2B	HP:0001824	Weight loss	HP:0040282	ORPHA:635
8929	PHOX2B	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:635
8929	PHOX2B	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:635
8930	MBD4	HP:0002576	Intussusception	HP:0040283	OMIM:174900
8930	MBD4	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
8930	MBD4	HP:0001217	Clubbing	HP:0040283	OMIM:174900
8930	MBD4	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
8930	MBD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
8930	MBD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:619975
8930	MBD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:606660
8930	MBD4	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
8930	MBD4	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
8930	MBD4	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
8930	MBD4	HP:0003596	Middle age onset	4/9	OMIM:619975
8930	MBD4	HP:0003581	Adult onset	-	OMIM:606660
8930	MBD4	HP:0004808	Acute myeloid leukemia	4/8	OMIM:619975
8930	MBD4	HP:0003621	Juvenile onset	1/7	OMIM:619975
8930	MBD4	HP:0001903	Anemia	HP:0040282	OMIM:174900
8930	MBD4	HP:0003003	Colon cancer	20%	OMIM:174900
8930	MBD4	HP:0003003	Colon cancer	1/8	OMIM:619975
8930	MBD4	HP:0003003	Colon cancer	5/12	OMIM:608456
8930	MBD4	HP:0003073	Hypoalbuminemia	-	OMIM:174900
8930	MBD4	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
8930	MBD4	HP:0031919	Juvenile type ovarian granulosa cell tumor	1/4	OMIM:619975
8930	MBD4	HP:0100008	Schwannoma	1/8	OMIM:619975
8930	MBD4	HP:0011462	Young adult onset	7/10	OMIM:619975
8930	MBD4	HP:0007716	Uveal melanoma	2/8	OMIM:619975
8930	MBD4	HP:0007716	Uveal melanoma	-	OMIM:606660
8930	MBD4	HP:0030075	Ductal carcinoma in situ	1/4	OMIM:619975
8930	MBD4	HP:0002858	Meningioma	1/8	OMIM:619975
8930	MBD4	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
8930	MBD4	HP:0005227	Adenomatous colonic polyposis	7/7	OMIM:619975
8930	MBD4	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
8930	MBD4	HP:0002900	Hypokalemia	-	OMIM:174900
8930	MBD4	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
8930	MBD4	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
8936	WASF1	HP:0001182	Tapered finger	2/4	OMIM:618707
8936	WASF1	HP:0010864	Intellectual disability, severe	5/5	OMIM:618707
8936	WASF1	HP:0001290	Generalized hypotonia	4/5	OMIM:618707
8936	WASF1	HP:0001250	Seizure	4/5	OMIM:618707
8936	WASF1	HP:0025336	Delayed ability to sit	2/4	OMIM:618707
8936	WASF1	HP:0001382	Joint hypermobility	3/5	OMIM:618707
8936	WASF1	HP:0000010	Recurrent urinary tract infections	2/5	OMIM:618707
8936	WASF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618707
8936	WASF1	HP:0007663	Reduced visual acuity	1/5	OMIM:618707
8936	WASF1	HP:0011800	Midface retrusion	3/4	OMIM:618707
8936	WASF1	HP:0002119	Ventriculomegaly	2/5	OMIM:618707
8936	WASF1	HP:0002136	Broad-based gait	3/4	OMIM:618707
8936	WASF1	HP:0100716	Self-injurious behavior	2/5	OMIM:618707
8936	WASF1	HP:0011968	Feeding difficulties	3/5	OMIM:618707
8936	WASF1	HP:0002376	Developmental regression	2/5	OMIM:618707
8936	WASF1	HP:0005643	Short 3rd toe	2/5	OMIM:618707
8936	WASF1	HP:0031936	Delayed ability to walk	5/5	OMIM:618707
8936	WASF1	HP:0000750	Delayed speech and language development	4/4	OMIM:618707
8936	WASF1	HP:0003186	Inverted nipples	1/4	OMIM:618707
8936	WASF1	HP:0000957	Cafe-au-lait spot	2/4	OMIM:618707
8936	WASF1	HP:0008093	Short 4th toe	1/5	OMIM:618707
8936	WASF1	HP:0002816	Genu recurvatum	1/5	OMIM:618707
8936	WASF1	HP:0006610	Wide intermamillary distance	2/4	OMIM:618707
8936	WASF1	HP:0000486	Strabismus	4/5	OMIM:618707
8936	WASF1	HP:0000490	Deeply set eye	1/5	OMIM:618707
8936	WASF1	HP:0012450	Chronic constipation	4/5	OMIM:618707
8936	WASF1	HP:0001763	Pes planus	3/5	OMIM:618707
8936	WASF1	HP:0000520	Proptosis	1/5	OMIM:618707
8936	WASF1	HP:0000582	Upslanted palpebral fissure	1/5	OMIM:618707
8936	WASF1	HP:0000592	Blue sclerae	2/5	OMIM:618707
8942	KYNU	HP:0002448	Progressive encephalopathy	-	ORPHA:79155
8942	KYNU	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8942	KYNU	HP:0001298	Encephalopathy	HP:0040280	ORPHA:79155
8942	KYNU	HP:0001293	Cranial nerve compression	-	OMIM:131300
8942	KYNU	HP:0001276	Hypertonia	HP:0040282	ORPHA:79155
8942	KYNU	HP:0001252	Hypotonia	2/7	OMIM:615777
8942	KYNU	HP:0001249	Intellectual disability	HP:0040282	ORPHA:79155
8942	KYNU	HP:0001249	Intellectual disability	5/7	OMIM:615777
8942	KYNU	HP:0001263	Global developmental delay	HP:0040282	ORPHA:79155
8942	KYNU	HP:0001263	Global developmental delay	-	OMIM:615777
8942	KYNU	HP:0001259	Coma	HP:0040283	ORPHA:79155
8942	KYNU	HP:0002515	Waddling gait	54/102	OMIM:131300
8942	KYNU	HP:0000089	Renal hypoplasia	1/2	OMIM:617661
8942	KYNU	HP:0001382	Joint hypermobility	-	OMIM:615777
8942	KYNU	HP:6000776	Elevated circulating 3-hydroxykynurenine concentration	3/3	OMIM:617661
8942	KYNU	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8942	KYNU	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8942	KYNU	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8942	KYNU	HP:0001324	Muscle weakness	40/96	OMIM:131300
8942	KYNU	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8942	KYNU	HP:0000007	Autosomal recessive inheritance	-	OMIM:236800
8942	KYNU	HP:0000007	Autosomal recessive inheritance	-	OMIM:617661
8942	KYNU	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8942	KYNU	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8942	KYNU	HP:0002650	Scoliosis	12/14	OMIM:131300
8942	KYNU	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8942	KYNU	HP:0002615	Hypotension	HP:0040282	ORPHA:79155
8942	KYNU	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8942	KYNU	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8942	KYNU	HP:0008905	Rhizomelia	1/2	OMIM:617661
8942	KYNU	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8942	KYNU	HP:0000175	Cleft palate	2/7	OMIM:615777
8942	KYNU	HP:0000122	Unilateral renal agenesis	1/2	OMIM:617661
8942	KYNU	HP:0002013	Vomiting	1/1	OMIM:236800
8942	KYNU	HP:0002007	Frontal bossing	1/2	OMIM:617661
8942	KYNU	HP:0005957	Breathing dysregulation	HP:0040282	ORPHA:79155
8942	KYNU	HP:6000121	Elevated urinary xanthurenic acid level	1/1	OMIM:236800
8942	KYNU	HP:0003388	Easy fatigability	36/76	OMIM:131300
8942	KYNU	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8942	KYNU	HP:0003422	Vertebral segmentation defect	2/2	OMIM:617661
8942	KYNU	HP:6000265	Elevated urinary 3-hydroxykynurenine level	1/1	OMIM:236800
8942	KYNU	HP:0003577	Congenital onset	2/2	OMIM:617661
8942	KYNU	HP:0003510	Severe short stature	7/7	OMIM:615777
8942	KYNU	HP:0002315	Headache	-	OMIM:131300
8942	KYNU	HP:0002315	Headache	HP:0040282	ORPHA:79155
8942	KYNU	HP:0004976	Knee dislocation	6/7	OMIM:615777
8942	KYNU	HP:0008527	Congenital sensorineural hearing impairment	HP:0040282	ORPHA:79155
8942	KYNU	HP:0009803	Short phalanx of finger	-	OMIM:615777
8942	KYNU	HP:0009763	Limb pain	63/92	OMIM:131300
8942	KYNU	HP:0003623	Neonatal onset	1/1	OMIM:236800
8942	KYNU	HP:0003621	Juvenile onset	-	OMIM:131300
8942	KYNU	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8942	KYNU	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8942	KYNU	HP:0012622	Chronic kidney disease	1/2	OMIM:617661
8942	KYNU	HP:6001056	Out-toeing	-	OMIM:131300
8942	KYNU	HP:0000651	Diplopia	-	OMIM:131300
8942	KYNU	HP:0001947	Renal tubular acidosis	HP:0040282	ORPHA:79155
8942	KYNU	HP:0001942	Metabolic acidosis	HP:0040282	ORPHA:79155
8942	KYNU	HP:0001956	Truncal obesity	2/7	OMIM:615777
8942	KYNU	HP:0001903	Anemia	HP:0040283	OMIM:131300
8942	KYNU	HP:0010049	Short metacarpal	-	OMIM:615777
8942	KYNU	HP:0000678	Dental crowding	-	OMIM:615777
8942	KYNU	HP:0000670	Carious teeth	-	OMIM:131300
8942	KYNU	HP:0011304	Broad thumb	2/7	OMIM:615777
8942	KYNU	HP:0000668	Hypodontia	-	OMIM:615777
8942	KYNU	HP:0000664	Synophrys	-	OMIM:615777
8942	KYNU	HP:0004322	Short stature	1/2	OMIM:617661
8942	KYNU	HP:0004383	Hypoplastic left heart	1/2	OMIM:617661
8942	KYNU	HP:0004396	Poor appetite	-	OMIM:131300
8942	KYNU	HP:0004365	Abnormal circulating tryptophan concentration	HP:0040280	ORPHA:79155
8942	KYNU	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8942	KYNU	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8942	KYNU	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8942	KYNU	HP:0003026	Short long bone	7/7	OMIM:615777
8942	KYNU	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8942	KYNU	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8942	KYNU	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8942	KYNU	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8942	KYNU	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:79155
8942	KYNU	HP:0000750	Delayed speech and language development	1/2	OMIM:617661
8942	KYNU	HP:0000750	Delayed speech and language development	-	OMIM:615777
8942	KYNU	HP:0011461	Fetal onset	7/7	OMIM:615777
8942	KYNU	HP:0000774	Narrow chest	1/2	OMIM:617661
8942	KYNU	HP:0000774	Narrow chest	2/7	OMIM:615777
8942	KYNU	HP:0000926	Platyspondyly	1/7	OMIM:615777
8942	KYNU	HP:0003180	Flat acetabular roof	-	OMIM:615777
8942	KYNU	HP:0004482	Relative macrocephaly	-	OMIM:615777
8942	KYNU	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8942	KYNU	HP:0000878	11 pairs of ribs	1/2	OMIM:617661
8942	KYNU	HP:0000823	Delayed puberty	-	OMIM:131300
8942	KYNU	HP:0010280	Stomatitis	HP:0040282	ORPHA:79155
8942	KYNU	HP:0000894	Short clavicles	-	OMIM:615777
8942	KYNU	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8942	KYNU	HP:0000958	Dry skin	HP:0040282	ORPHA:79155
8942	KYNU	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8942	KYNU	HP:0000952	Jaundice	1/1	OMIM:236800
8942	KYNU	HP:0000286	Epicanthus	1/7	OMIM:615777
8942	KYNU	HP:0000280	Coarse facial features	2/7	OMIM:615777
8942	KYNU	HP:0002827	Hip dislocation	3/7	OMIM:615777
8942	KYNU	HP:0000252	Microcephaly	1/2	OMIM:617661
8942	KYNU	HP:0000252	Microcephaly	-	OMIM:615777
8942	KYNU	HP:0001545	Anteriorly placed anus	1/2	OMIM:617661
8942	KYNU	HP:0002857	Genu valgum	-	OMIM:131300
8942	KYNU	HP:0001533	Slender build	-	OMIM:131300
8942	KYNU	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8942	KYNU	HP:0007807	Optic nerve compression	-	OMIM:131300
8942	KYNU	HP:0012368	Flat face	7/7	OMIM:615777
8942	KYNU	HP:0002937	Hemivertebrae	2/2	OMIM:617661
8942	KYNU	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8942	KYNU	HP:0000365	Hearing impairment	10/67	OMIM:131300
8942	KYNU	HP:0000369	Low-set ears	1/2	OMIM:617661
8942	KYNU	HP:0000343	Long philtrum	1/7	OMIM:615777
8942	KYNU	HP:0011001	Increased bone mineral density	-	OMIM:131300
8942	KYNU	HP:0001649	Tachycardia	HP:0040282	ORPHA:79155
8942	KYNU	HP:0001643	Patent ductus arteriosus	1/2	OMIM:617661
8942	KYNU	HP:0000311	Round face	2/7	OMIM:615777
8942	KYNU	HP:0002970	Genu varum	-	OMIM:615777
8942	KYNU	HP:0000303	Mandibular prognathia	-	OMIM:131300
8942	KYNU	HP:0005280	Depressed nasal bridge	1/2	OMIM:617661
8942	KYNU	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8942	KYNU	HP:0000470	Short neck	1/7	OMIM:615777
8942	KYNU	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8942	KYNU	HP:0001763	Pes planus	1/7	OMIM:615777
8942	KYNU	HP:0001840	Metatarsus adductus	-	OMIM:615777
8942	KYNU	HP:0000520	Proptosis	2/4	OMIM:131300
8942	KYNU	HP:0000520	Proptosis	7/7	OMIM:615777
8942	KYNU	HP:0000592	Blue sclerae	2/7	OMIM:615777
8942	KYNU	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8942	KYNU	HP:0001883	Talipes	1/2	OMIM:617661
8942	KYNU	HP:0012514	Lower limb pain	4/4	OMIM:131300
8943	AP3D1	HP:0001107	Ocular albinism	1/1	OMIM:617050
8943	AP3D1	HP:0001107	Ocular albinism	HP:0040281	ORPHA:1000
8943	AP3D1	HP:0001107	Ocular albinism	HP:0040281	ORPHA:54
8943	AP3D1	HP:0001103	Abnormal macular morphology	HP:0040282	ORPHA:54
8943	AP3D1	HP:0002421	Poor head control	1/1	OMIM:617050
8943	AP3D1	HP:0001290	Generalized hypotonia	1/1	OMIM:617050
8943	AP3D1	HP:0001332	Dystonia	1/1	OMIM:617050
8943	AP3D1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617050
8943	AP3D1	HP:0001480	Freckling	HP:0040282	ORPHA:54
8943	AP3D1	HP:0008936	Axial hypotonia	1/1	OMIM:617050
8943	AP3D1	HP:0002721	Immunodeficiency	1/1	OMIM:617050
8943	AP3D1	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:617050
8943	AP3D1	HP:0002059	Cerebral atrophy	1/1	OMIM:617050
8943	AP3D1	HP:0002104	Apnea	1/1	OMIM:617050
8943	AP3D1	HP:0002188	Delayed CNS myelination	1/1	OMIM:617050
8943	AP3D1	HP:0002240	Hepatomegaly	1/1	OMIM:617050
8943	AP3D1	HP:0002205	Recurrent respiratory infections	1/1	OMIM:617050
8943	AP3D1	HP:0011968	Feeding difficulties	1/1	OMIM:617050
8943	AP3D1	HP:0001022	Albinism	1/1	OMIM:617050
8943	AP3D1	HP:0002353	EEG abnormality	1/1	OMIM:617050
8943	AP3D1	HP:0005592	Giant melanosomes in melanocytes	HP:0040283	ORPHA:54
8943	AP3D1	HP:0000639	Nystagmus	1/1	OMIM:617050
8943	AP3D1	HP:0000639	Nystagmus	HP:0040281	ORPHA:54
8943	AP3D1	HP:0000639	Nystagmus	HP:0040281	ORPHA:1000
8943	AP3D1	HP:0000613	Photophobia	HP:0040281	ORPHA:54
8943	AP3D1	HP:0000613	Photophobia	HP:0040281	ORPHA:1000
8943	AP3D1	HP:0000615	Abnormal pupil morphology	HP:0040281	ORPHA:54
8943	AP3D1	HP:0000601	Hypotelorism	1/1	OMIM:617050
8943	AP3D1	HP:0011344	Severe global developmental delay	1/1	OMIM:617050
8943	AP3D1	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:54
8943	AP3D1	HP:0000278	Retrognathia	1/1	OMIM:617050
8943	AP3D1	HP:0007750	Hypoplasia of the fovea	HP:0040282	ORPHA:54
8943	AP3D1	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:54
8943	AP3D1	HP:0000252	Microcephaly	1/1	OMIM:617050
8943	AP3D1	HP:0006530	Abnormal pulmonary interstitial morphology	1/1	OMIM:617050
8943	AP3D1	HP:0000369	Low-set ears	1/1	OMIM:617050
8943	AP3D1	HP:0000319	Smooth philtrum	1/1	OMIM:617050
8943	AP3D1	HP:0011166	Focal myoclonic seizure	1/1	OMIM:617050
8943	AP3D1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:1000
8943	AP3D1	HP:0000400	Macrotia	1/1	OMIM:617050
8943	AP3D1	HP:0000483	Astigmatism	HP:0040281	ORPHA:54
8943	AP3D1	HP:0000486	Strabismus	HP:0040282	ORPHA:54
8943	AP3D1	HP:0000486	Strabismus	HP:0040282	ORPHA:1000
8943	AP3D1	HP:0001744	Splenomegaly	1/1	OMIM:617050
8943	AP3D1	HP:0000505	Visual impairment	HP:0040283	ORPHA:54
8943	AP3D1	HP:0000505	Visual impairment	HP:0040281	ORPHA:1000
8943	AP3D1	HP:0000545	Myopia	HP:0040283	ORPHA:54
8943	AP3D1	HP:0001875	Decreased total neutrophil count	1/1	OMIM:617050
8945	BTRC	HP:0001171	Split hand	HP:0040283	ORPHA:2440
8945	BTRC	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
8945	BTRC	HP:0001293	Cranial nerve compression	-	OMIM:131300
8945	BTRC	HP:0001252	Hypotonia	2/7	OMIM:615777
8945	BTRC	HP:0001249	Intellectual disability	5/7	OMIM:615777
8945	BTRC	HP:0001263	Global developmental delay	-	OMIM:615777
8945	BTRC	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:2440
8945	BTRC	HP:0002515	Waddling gait	54/102	OMIM:131300
8945	BTRC	HP:0001382	Joint hypermobility	-	OMIM:615777
8945	BTRC	HP:0002694	Sclerosis of skull base	-	OMIM:131300
8945	BTRC	HP:0008897	Postnatal growth retardation	-	OMIM:615777
8945	BTRC	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
8945	BTRC	HP:0001324	Muscle weakness	40/96	OMIM:131300
8945	BTRC	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
8945	BTRC	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
8945	BTRC	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
8945	BTRC	HP:0002650	Scoliosis	12/14	OMIM:131300
8945	BTRC	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
8945	BTRC	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
8945	BTRC	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
8945	BTRC	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
8945	BTRC	HP:0012165	Oligodactyly	HP:0040281	ORPHA:2440
8945	BTRC	HP:0000175	Cleft palate	2/7	OMIM:615777
8945	BTRC	HP:0003388	Easy fatigability	36/76	OMIM:131300
8945	BTRC	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
8945	BTRC	HP:0003510	Severe short stature	7/7	OMIM:615777
8945	BTRC	HP:0002315	Headache	-	OMIM:131300
8945	BTRC	HP:0004976	Knee dislocation	6/7	OMIM:615777
8945	BTRC	HP:0009803	Short phalanx of finger	-	OMIM:615777
8945	BTRC	HP:0009763	Limb pain	63/92	OMIM:131300
8945	BTRC	HP:0003621	Juvenile onset	-	OMIM:131300
8945	BTRC	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
8945	BTRC	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
8945	BTRC	HP:6001056	Out-toeing	-	OMIM:131300
8945	BTRC	HP:0000651	Diplopia	-	OMIM:131300
8945	BTRC	HP:0001956	Truncal obesity	2/7	OMIM:615777
8945	BTRC	HP:0001903	Anemia	HP:0040283	OMIM:131300
8945	BTRC	HP:0010049	Short metacarpal	-	OMIM:615777
8945	BTRC	HP:0000678	Dental crowding	-	OMIM:615777
8945	BTRC	HP:0000670	Carious teeth	-	OMIM:131300
8945	BTRC	HP:0011304	Broad thumb	2/7	OMIM:615777
8945	BTRC	HP:0000668	Hypodontia	-	OMIM:615777
8945	BTRC	HP:0000664	Synophrys	-	OMIM:615777
8945	BTRC	HP:0004396	Poor appetite	-	OMIM:131300
8945	BTRC	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
8945	BTRC	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
8945	BTRC	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
8945	BTRC	HP:0003026	Short long bone	7/7	OMIM:615777
8945	BTRC	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
8945	BTRC	HP:0000767	Pectus excavatum	2/7	OMIM:615777
8945	BTRC	HP:0000768	Pectus carinatum	1/7	OMIM:615777
8945	BTRC	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
8945	BTRC	HP:0000750	Delayed speech and language development	-	OMIM:615777
8945	BTRC	HP:0011461	Fetal onset	7/7	OMIM:615777
8945	BTRC	HP:0000774	Narrow chest	2/7	OMIM:615777
8945	BTRC	HP:0000926	Platyspondyly	1/7	OMIM:615777
8945	BTRC	HP:0003180	Flat acetabular roof	-	OMIM:615777
8945	BTRC	HP:0004482	Relative macrocephaly	-	OMIM:615777
8945	BTRC	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
8945	BTRC	HP:0000823	Delayed puberty	-	OMIM:131300
8945	BTRC	HP:0000894	Short clavicles	-	OMIM:615777
8945	BTRC	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
8945	BTRC	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
8945	BTRC	HP:0000286	Epicanthus	1/7	OMIM:615777
8945	BTRC	HP:0000280	Coarse facial features	2/7	OMIM:615777
8945	BTRC	HP:0002827	Hip dislocation	3/7	OMIM:615777
8945	BTRC	HP:0000252	Microcephaly	-	OMIM:615777
8945	BTRC	HP:0002857	Genu valgum	-	OMIM:131300
8945	BTRC	HP:0001533	Slender build	-	OMIM:131300
8945	BTRC	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
8945	BTRC	HP:0007807	Optic nerve compression	-	OMIM:131300
8945	BTRC	HP:0012368	Flat face	7/7	OMIM:615777
8945	BTRC	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
8945	BTRC	HP:0000365	Hearing impairment	10/67	OMIM:131300
8945	BTRC	HP:0000343	Long philtrum	1/7	OMIM:615777
8945	BTRC	HP:0011001	Increased bone mineral density	-	OMIM:131300
8945	BTRC	HP:0000311	Round face	2/7	OMIM:615777
8945	BTRC	HP:0002970	Genu varum	-	OMIM:615777
8945	BTRC	HP:0000303	Mandibular prognathia	-	OMIM:131300
8945	BTRC	HP:0004058	Hand monodactyly	HP:0040282	ORPHA:2440
8945	BTRC	HP:0004050	Absent hand	HP:0040283	ORPHA:2440
8945	BTRC	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2440
8945	BTRC	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
8945	BTRC	HP:0000470	Short neck	1/7	OMIM:615777
8945	BTRC	HP:0001769	Broad foot	HP:0040283	OMIM:615777
8945	BTRC	HP:0001763	Pes planus	1/7	OMIM:615777
8945	BTRC	HP:0001840	Metatarsus adductus	-	OMIM:615777
8945	BTRC	HP:0000526	Aniridia	HP:0040283	ORPHA:2440
8945	BTRC	HP:0000520	Proptosis	2/4	OMIM:131300
8945	BTRC	HP:0000520	Proptosis	7/7	OMIM:615777
8945	BTRC	HP:0001839	Split foot	HP:0040282	ORPHA:2440
8945	BTRC	HP:0000592	Blue sclerae	2/7	OMIM:615777
8945	BTRC	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
8945	BTRC	HP:0012514	Lower limb pain	4/4	OMIM:131300
8974	P4HA2	HP:6000502	Elevated circulating calprotectin concentration	HP:0040282	ORPHA:397
8974	P4HA2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
8974	P4HA2	HP:0001123	Visual field defect	HP:0040283	ORPHA:397
8974	P4HA2	HP:0100809	Scalp tenderness	HP:0040283	ORPHA:397
8974	P4HA2	HP:0001287	Meningitis	HP:0040283	ORPHA:397
8974	P4HA2	HP:0001251	Ataxia	HP:0040283	ORPHA:397
8974	P4HA2	HP:0001260	Dysarthria	HP:0040283	ORPHA:397
8974	P4HA2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:397
8974	P4HA2	HP:0001399	Hepatic failure	HP:0040283	ORPHA:397
8974	P4HA2	HP:0001369	Arthritis	HP:0040282	ORPHA:397
8974	P4HA2	HP:0001387	Joint stiffness	HP:0040281	ORPHA:397
8974	P4HA2	HP:0033834	Malaise	HP:0040282	ORPHA:397
8974	P4HA2	HP:0001324	Muscle weakness	HP:0040283	ORPHA:397
8974	P4HA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
8974	P4HA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
8974	P4HA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617238
8974	P4HA2	HP:0002637	Cerebral ischemia	HP:0040281	ORPHA:397
8974	P4HA2	HP:0002633	Vasculitis	HP:0040281	ORPHA:397
8974	P4HA2	HP:0002647	Aortic dissection	HP:0040283	ORPHA:397
8974	P4HA2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
8974	P4HA2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
8974	P4HA2	HP:0031246	Nonproductive cough	HP:0040283	ORPHA:397
8974	P4HA2	HP:0002027	Abdominal pain	HP:0040283	ORPHA:397
8974	P4HA2	HP:0003326	Myalgia	HP:0040283	ORPHA:397
8974	P4HA2	HP:0002039	Anorexia	HP:0040281	ORPHA:397
8974	P4HA2	HP:0033123	Elevated circulating osteopontin level	HP:0040282	ORPHA:397
8974	P4HA2	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:397
8974	P4HA2	HP:0002103	Abnormal pleura morphology	HP:0040283	ORPHA:397
8974	P4HA2	HP:0011899	Hyperfibrinogenemia	HP:0040282	ORPHA:397
8974	P4HA2	HP:0003401	Paresthesia	HP:0040283	ORPHA:397
8974	P4HA2	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:397
8974	P4HA2	HP:0100776	Recurrent pharyngitis	HP:0040283	ORPHA:397
8974	P4HA2	HP:0100721	Mediastinal lymphadenopathy	HP:0040283	ORPHA:397
8974	P4HA2	HP:0100758	Gangrene	HP:0040283	ORPHA:397
8974	P4HA2	HP:0002367	Visual hallucination	HP:0040283	ORPHA:397
8974	P4HA2	HP:0002321	Vertigo	HP:0040283	ORPHA:397
8974	P4HA2	HP:0002315	Headache	HP:0040281	ORPHA:397
8974	P4HA2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:397
8974	P4HA2	HP:0200042	Skin ulcer	HP:0040283	ORPHA:397
8974	P4HA2	HP:0003621	Juvenile onset	8/19	OMIM:180100
8974	P4HA2	HP:0003621	Juvenile onset	9/9	OMIM:617238
8974	P4HA2	HP:0000639	Nystagmus	HP:0040283	ORPHA:397
8974	P4HA2	HP:0000651	Diplopia	HP:0040283	ORPHA:397
8974	P4HA2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:397
8974	P4HA2	HP:0001945	Fever	HP:0040281	ORPHA:397
8974	P4HA2	HP:0001903	Anemia	HP:0040282	ORPHA:397
8974	P4HA2	HP:0000662	Nyctalopia	26/28	OMIM:180100
8974	P4HA2	HP:0012735	Cough	HP:0040283	ORPHA:397
8974	P4HA2	HP:0000716	Depression	HP:0040282	ORPHA:397
8974	P4HA2	HP:0011463	Childhood onset	3/19	OMIM:180100
8974	P4HA2	HP:0011462	Young adult onset	8/19	OMIM:180100
8974	P4HA2	HP:0000790	Hematuria	HP:0040283	ORPHA:397
8974	P4HA2	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:397
8974	P4HA2	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:397
8974	P4HA2	HP:0030783	Increased circulating interleukin 6 concentration	HP:0040282	ORPHA:397
8974	P4HA2	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:397
8974	P4HA2	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	HP:0040283	ORPHA:397
8974	P4HA2	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:397
8974	P4HA2	HP:0011675	Arrhythmia	HP:0040283	ORPHA:397
8974	P4HA2	HP:0001596	Alopecia	HP:0040282	ORPHA:397
8974	P4HA2	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:397
8974	P4HA2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
8974	P4HA2	HP:0002829	Arthralgia	HP:0040283	ORPHA:397
8974	P4HA2	HP:0000206	Glossitis	HP:0040283	ORPHA:397
8974	P4HA2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
8974	P4HA2	HP:0012378	Fatigue	HP:0040281	ORPHA:397
8974	P4HA2	HP:0005244	Gastrointestinal infarctions	HP:0040283	ORPHA:397
8974	P4HA2	HP:0005216	Impaired mastication	HP:0040281	ORPHA:397
8974	P4HA2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:397
8974	P4HA2	HP:0011003	High myopia	6/6	OMIM:617238
8974	P4HA2	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:397
8974	P4HA2	HP:0030164	Jaw claudication	HP:0040282	ORPHA:397
8974	P4HA2	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:397
8974	P4HA2	HP:0001701	Pericarditis	HP:0040283	ORPHA:397
8974	P4HA2	HP:0000421	Epistaxis	HP:0040283	ORPHA:397
8974	P4HA2	HP:0005413	Increased alpha-globulin	HP:0040282	ORPHA:397
8974	P4HA2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
8974	P4HA2	HP:0001824	Weight loss	HP:0040281	ORPHA:397
8974	P4HA2	HP:0000508	Ptosis	HP:0040283	ORPHA:397
8974	P4HA2	HP:0000505	Visual impairment	HP:0040282	ORPHA:397
8974	P4HA2	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:397
8974	P4HA2	HP:0000575	Scotoma	5/18	OMIM:180100
8974	P4HA2	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040281	ORPHA:397
8974	P4HA2	HP:0000572	Visual loss	HP:0040283	ORPHA:397
8974	P4HA2	HP:0001872	Abnormality of thrombocytes	HP:0040283	ORPHA:397
8974	P4HA2	HP:0000541	Retinal detachment	1/9	OMIM:617238
8974	P4HA2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
8974	P4HA2	HP:0000545	Myopia	-	OMIM:180100
8985	PLOD3	HP:0001156	Brachydactyly	-	OMIM:143095
8985	PLOD3	HP:0001123	Visual field defect	-	OMIM:143200
8985	PLOD3	HP:0009882	Short distal phalanx of finger	-	OMIM:143095
8985	PLOD3	HP:0008551	Microtia	-	OMIM:143095
8985	PLOD3	HP:0001270	Motor delay	-	OMIM:156550
8985	PLOD3	HP:0001288	Gait disturbance	-	OMIM:156550
8985	PLOD3	HP:0001256	Intellectual disability, mild	-	OMIM:259770
8985	PLOD3	HP:0001252	Hypotonia	-	OMIM:259770
8985	PLOD3	HP:0001249	Intellectual disability	0/9	OMIM:143095
8985	PLOD3	HP:0001249	Intellectual disability	3/20	OMIM:150250
8985	PLOD3	HP:0001263	Global developmental delay	1/1	OMIM:612394
8985	PLOD3	HP:0100864	Short femoral neck	-	OMIM:143095
8985	PLOD3	HP:0006067	Multiple carpal ossification centers	-	OMIM:143095
8985	PLOD3	HP:0006067	Multiple carpal ossification centers	-	OMIM:150250
8985	PLOD3	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:143095
8985	PLOD3	HP:0003883	Tapered humerus	3/16	OMIM:150250
8985	PLOD3	HP:0001222	Spatulate thumbs	17/18	OMIM:150250
8985	PLOD3	HP:0002515	Waddling gait	-	OMIM:143095
8985	PLOD3	HP:0003834	Shoulder dislocation	-	OMIM:143095
8985	PLOD3	HP:0006095	Wide tufts of distal phalanges	-	OMIM:154780
8985	PLOD3	HP:0001376	Limitation of joint mobility	-	OMIM:156550
8985	PLOD3	HP:0001371	Flexion contracture	-	OMIM:143095
8985	PLOD3	HP:0001373	Joint dislocation	-	OMIM:143095
8985	PLOD3	HP:0001382	Joint hypermobility	-	OMIM:259770
8985	PLOD3	HP:0001382	Joint hypermobility	-	OMIM:150250
8985	PLOD3	HP:0012019	Lens luxation	-	OMIM:154780
8985	PLOD3	HP:0000023	Inguinal hernia	-	OMIM:156550
8985	PLOD3	HP:0002684	Thickened calvaria	-	OMIM:154780
8985	PLOD3	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
8985	PLOD3	HP:0000028	Cryptorchidism	-	OMIM:150250
8985	PLOD3	HP:0002688	Absent frontal sinuses	-	OMIM:154780
8985	PLOD3	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
8985	PLOD3	HP:0008839	Hypoplastic pelvis	-	OMIM:156550
8985	PLOD3	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
8985	PLOD3	HP:0006172	Flattened, squared-off epiphyses of tubular bones	-	OMIM:156550
8985	PLOD3	HP:0003994	Dislocated wrist	-	OMIM:150250
8985	PLOD3	HP:0002663	Delayed epiphyseal ossification	-	OMIM:156550
8985	PLOD3	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
8985	PLOD3	HP:0002656	Epiphyseal dysplasia	-	OMIM:184840
8985	PLOD3	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:143095
8985	PLOD3	HP:0002673	Coxa valga	-	OMIM:154780
8985	PLOD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
8985	PLOD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:143095
8985	PLOD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
8985	PLOD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:154780
8985	PLOD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:150250
8985	PLOD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:156550
8985	PLOD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:143200
8985	PLOD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:184840
8985	PLOD3	HP:0002650	Scoliosis	1/5	OMIM:259770
8985	PLOD3	HP:0002650	Scoliosis	1/1	OMIM:612394
8985	PLOD3	HP:0002650	Scoliosis	9/9	OMIM:143095
8985	PLOD3	HP:0002650	Scoliosis	12/20	OMIM:150250
8985	PLOD3	HP:0008905	Rhizomelia	-	OMIM:143095
8985	PLOD3	HP:0008905	Rhizomelia	1/1	OMIM:156550
8985	PLOD3	HP:0000179	Thick lower lip vermilion	-	OMIM:154780
8985	PLOD3	HP:0000193	Bifid uvula	4/9	OMIM:154780
8985	PLOD3	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
8985	PLOD3	HP:0000175	Cleft palate	-	OMIM:184840
8985	PLOD3	HP:0000175	Cleft palate	1/1	OMIM:156550
8985	PLOD3	HP:0000175	Cleft palate	4/9	OMIM:154780
8985	PLOD3	HP:0000175	Cleft palate	3/20	OMIM:150250
8985	PLOD3	HP:0007643	Peripheral tractional retinal detachment	-	OMIM:143200
8985	PLOD3	HP:0007598	Bilateral single transverse palmar creases	-	OMIM:143095
8985	PLOD3	HP:0002780	Bronchomalacia	-	OMIM:150250
8985	PLOD3	HP:0002779	Tracheomalacia	-	OMIM:156550
8985	PLOD3	HP:0002779	Tracheomalacia	-	OMIM:150250
8985	PLOD3	HP:0002777	Tracheal stenosis	-	OMIM:150250
8985	PLOD3	HP:0002757	Recurrent fractures	4/5	OMIM:259770
8985	PLOD3	HP:0002756	Pathologic fracture	-	OMIM:259770
8985	PLOD3	HP:0002756	Pathologic fracture	1/1	OMIM:612394
8985	PLOD3	HP:0002751	Kyphoscoliosis	-	OMIM:143095
8985	PLOD3	HP:0002751	Kyphoscoliosis	-	OMIM:259770
8985	PLOD3	HP:0002750	Delayed skeletal maturation	-	OMIM:143095
8985	PLOD3	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
8985	PLOD3	HP:0002007	Frontal bossing	-	OMIM:150250
8985	PLOD3	HP:0003304	Spondylolysis	-	OMIM:150250
8985	PLOD3	HP:0004619	Lumbar kyphoscoliosis	-	OMIM:156550
8985	PLOD3	HP:0003301	Irregular vertebral endplates	-	OMIM:143095
8985	PLOD3	HP:0011800	Midface retrusion	-	OMIM:184840
8985	PLOD3	HP:0011800	Midface retrusion	-	OMIM:156550
8985	PLOD3	HP:0011800	Midface retrusion	9/9	OMIM:154780
8985	PLOD3	HP:0011800	Midface retrusion	19/20	OMIM:150250
8985	PLOD3	HP:0002098	Respiratory distress	-	OMIM:156550
8985	PLOD3	HP:0002092	Pulmonary arterial hypertension	-	OMIM:143095
8985	PLOD3	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
8985	PLOD3	HP:0010446	Tricuspid stenosis	-	OMIM:143095
8985	PLOD3	HP:0008127	Bipartite calcaneus	-	OMIM:150250
8985	PLOD3	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
8985	PLOD3	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
8985	PLOD3	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
8985	PLOD3	HP:0003417	Coronal cleft vertebrae	-	OMIM:143095
8985	PLOD3	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:156550
8985	PLOD3	HP:0002194	Delayed gross motor development	-	OMIM:143095
8985	PLOD3	HP:0002164	Nail dysplasia	1/1	OMIM:612394
8985	PLOD3	HP:0002176	Spinal cord compression	-	OMIM:150250
8985	PLOD3	HP:0100490	Camptodactyly of finger	-	OMIM:143095
8985	PLOD3	HP:0010557	Overlapping fingers	1/2	OMIM:612394
8985	PLOD3	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
8985	PLOD3	HP:0010585	Small epiphyses	9/9	OMIM:143095
8985	PLOD3	HP:0008271	Abnormal cartilage collagen	-	OMIM:156550
8985	PLOD3	HP:0010580	Enlarged epiphyses	-	OMIM:184840
8985	PLOD3	HP:0003593	Infantile onset	1/5	OMIM:259770
8985	PLOD3	HP:0003593	Infantile onset	9/9	OMIM:143095
8985	PLOD3	HP:0003577	Congenital onset	4/5	OMIM:259770
8985	PLOD3	HP:0003577	Congenital onset	6/6	OMIM:143095
8985	PLOD3	HP:0003577	Congenital onset	1/1	OMIM:156550
8985	PLOD3	HP:0002208	Coarse hair	1/1	OMIM:612394
8985	PLOD3	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:156550
8985	PLOD3	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
8985	PLOD3	HP:0025019	Arterial rupture	1/1	OMIM:612394
8985	PLOD3	HP:0004976	Knee dislocation	16/20	OMIM:150250
8985	PLOD3	HP:0004976	Knee dislocation	6/6	OMIM:143095
8985	PLOD3	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
8985	PLOD3	HP:0200003	Splayed epiphyses	-	OMIM:156550
8985	PLOD3	HP:0009803	Short phalanx of finger	-	OMIM:143095
8985	PLOD3	HP:0001089	Iris atrophy	-	OMIM:259770
8985	PLOD3	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:143095
8985	PLOD3	HP:0010743	Short metatarsal	-	OMIM:150250
8985	PLOD3	HP:0008434	Hypoplastic cervical vertebrae	-	OMIM:150250
8985	PLOD3	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
8985	PLOD3	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
8985	PLOD3	HP:0004942	Aortic aneurysm	-	OMIM:150250
8985	PLOD3	HP:0004209	Clinodactyly of the 5th finger	2/9	OMIM:154780
8985	PLOD3	HP:0004232	Accessory carpal bones	-	OMIM:150250
8985	PLOD3	HP:0000648	Optic atrophy	-	OMIM:143200
8985	PLOD3	HP:0000618	Blindness	5/5	OMIM:259770
8985	PLOD3	HP:0010049	Short metacarpal	-	OMIM:143095
8985	PLOD3	HP:0010049	Short metacarpal	-	OMIM:150250
8985	PLOD3	HP:0030490	Exudative vitreoretinopathy	HP:0040283	OMIM:143200
8985	PLOD3	HP:0000684	Delayed eruption of teeth	-	OMIM:143095
8985	PLOD3	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:154780
8985	PLOD3	HP:0000691	Microdontia	-	OMIM:143095
8985	PLOD3	HP:0000687	Widely spaced teeth	-	OMIM:143095
8985	PLOD3	HP:0000668	Hypodontia	-	OMIM:150250
8985	PLOD3	HP:0000667	Phthisis bulbi	-	OMIM:259770
8985	PLOD3	HP:0004322	Short stature	-	OMIM:259770
8985	PLOD3	HP:0004322	Short stature	-	OMIM:154780
8985	PLOD3	HP:0004322	Short stature	15/15	OMIM:143095
8985	PLOD3	HP:0004322	Short stature	14/20	OMIM:150250
8985	PLOD3	HP:0030663	Optically empty vitreous	-	OMIM:143200
8985	PLOD3	HP:0003071	Flattened epiphysis	-	OMIM:143095
8985	PLOD3	HP:0003088	Premature osteoarthritis	-	OMIM:184840
8985	PLOD3	HP:0003083	Dislocated radial head	6/6	OMIM:143095
8985	PLOD3	HP:0003037	Enlarged joints	-	OMIM:156550
8985	PLOD3	HP:0003031	Ulnar bowing	-	OMIM:154780
8985	PLOD3	HP:0003031	Ulnar bowing	-	OMIM:143095
8985	PLOD3	HP:0003042	Elbow dislocation	-	OMIM:143095
8985	PLOD3	HP:0003042	Elbow dislocation	13/20	OMIM:150250
8985	PLOD3	HP:0003040	Arthropathy	-	OMIM:143095
8985	PLOD3	HP:0003015	Flared metaphysis	-	OMIM:156550
8985	PLOD3	HP:0003016	Metaphyseal widening	-	OMIM:259770
8985	PLOD3	HP:0003022	Hypoplasia of the ulna	-	OMIM:143095
8985	PLOD3	HP:0000767	Pectus excavatum	1/1	OMIM:156550
8985	PLOD3	HP:0000767	Pectus excavatum	-	OMIM:150250
8985	PLOD3	HP:0000768	Pectus carinatum	-	OMIM:150250
8985	PLOD3	HP:0009179	Deviation of the 5th finger	-	OMIM:143095
8985	PLOD3	HP:0011461	Fetal onset	2/2	OMIM:612394
8985	PLOD3	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
8985	PLOD3	HP:0003196	Short nose	9/9	OMIM:154780
8985	PLOD3	HP:0003196	Short nose	1/1	OMIM:612394
8985	PLOD3	HP:0000914	Shield chest	-	OMIM:143095
8985	PLOD3	HP:0000926	Platyspondyly	1/9	OMIM:154780
8985	PLOD3	HP:0000926	Platyspondyly	-	OMIM:184840
8985	PLOD3	HP:0000926	Platyspondyly	-	OMIM:259770
8985	PLOD3	HP:0000926	Platyspondyly	1/1	OMIM:156550
8985	PLOD3	HP:0000926	Platyspondyly	1/1	OMIM:612394
8985	PLOD3	HP:0003184	Decreased hip abduction	-	OMIM:143095
8985	PLOD3	HP:0003093	Limited hip extension	9/9	OMIM:143095
8985	PLOD3	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
8985	PLOD3	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:143095
8985	PLOD3	HP:0040025	Clinodactyly of the 4th finger	2/9	OMIM:154780
8985	PLOD3	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
8985	PLOD3	HP:0004568	Beaking of vertebral bodies	-	OMIM:150250
8985	PLOD3	HP:0003298	Spina bifida occulta	-	OMIM:150250
8985	PLOD3	HP:0003273	Hip contracture	-	OMIM:156550
8985	PLOD3	HP:0045075	Sparse eyebrow	-	OMIM:143095
8985	PLOD3	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
8985	PLOD3	HP:0100250	Meningeal calcification	-	OMIM:154780
8985	PLOD3	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
8985	PLOD3	HP:0000939	Osteoporosis	4/5	OMIM:259770
8985	PLOD3	HP:0000938	Osteopenia	1/5	OMIM:259770
8985	PLOD3	HP:0000938	Osteopenia	1/1	OMIM:612394
8985	PLOD3	HP:0000947	Dumbbell-shaped long bone	-	OMIM:156550
8985	PLOD3	HP:0000946	Hypoplastic ilia	-	OMIM:154780
8985	PLOD3	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
8985	PLOD3	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:143200
8985	PLOD3	HP:6000970	Diminished sulfotransferase activity in cultured fibroblasts	2/2	OMIM:143095
8985	PLOD3	HP:0012283	Small distal femoral epiphysis	-	OMIM:154780
8985	PLOD3	HP:0012284	Small proximal tibial epiphyses	-	OMIM:154780
8985	PLOD3	HP:0000286	Epicanthus	-	OMIM:154780
8985	PLOD3	HP:0000272	Malar flattening	-	OMIM:154780
8985	PLOD3	HP:0000272	Malar flattening	27/28	OMIM:184840
8985	PLOD3	HP:0000272	Malar flattening	-	OMIM:150250
8985	PLOD3	HP:0000272	Malar flattening	1/1	OMIM:156550
8985	PLOD3	HP:0000272	Malar flattening	1/1	OMIM:612394
8985	PLOD3	HP:0006471	Fixed elbow flexion	-	OMIM:143095
8985	PLOD3	HP:0006462	Generalized bone demineralization	-	OMIM:143095
8985	PLOD3	HP:0006456	Irregular proximal tibial epiphyses	-	OMIM:154780
8985	PLOD3	HP:0007773	Vitreoretinopathy	-	OMIM:154780
8985	PLOD3	HP:0007773	Vitreoretinopathy	-	OMIM:259770
8985	PLOD3	HP:0007773	Vitreoretinopathy	-	OMIM:143200
8985	PLOD3	HP:0006407	Irregular distal femoral epiphysis	-	OMIM:154780
8985	PLOD3	HP:0002816	Genu recurvatum	3/6	OMIM:143095
8985	PLOD3	HP:0002812	Coxa vara	-	OMIM:156550
8985	PLOD3	HP:0002829	Arthralgia	-	OMIM:143095
8985	PLOD3	HP:0002829	Arthralgia	20/20	OMIM:184840
8985	PLOD3	HP:0002827	Hip dislocation	16/20	OMIM:150250
8985	PLOD3	HP:0002827	Hip dislocation	-	OMIM:156550
8985	PLOD3	HP:0005086	Knee osteoarthritis	-	OMIM:154780
8985	PLOD3	HP:0002808	Kyphosis	-	OMIM:143095
8985	PLOD3	HP:0002808	Kyphosis	1/5	OMIM:259770
8985	PLOD3	HP:0006375	Dumbbell-shaped femur	1/1	OMIM:156550
8985	PLOD3	HP:0006361	Irregular femoral epiphysis	-	OMIM:154780
8985	PLOD3	HP:0000252	Microcephaly	-	OMIM:259770
8985	PLOD3	HP:0001552	Barrel-shaped chest	-	OMIM:143095
8985	PLOD3	HP:0001552	Barrel-shaped chest	-	OMIM:259770
8985	PLOD3	HP:0000218	High palate	-	OMIM:143095
8985	PLOD3	HP:0000215	Thick upper lip vermilion	-	OMIM:154780
8985	PLOD3	HP:0002857	Genu valgum	-	OMIM:143095
8985	PLOD3	HP:0001537	Umbilical hernia	-	OMIM:156550
8985	PLOD3	HP:0000201	Pierre-Robin sequence	4/9	OMIM:154780
8985	PLOD3	HP:0000201	Pierre-Robin sequence	-	OMIM:184840
8985	PLOD3	HP:0000204	Cleft upper lip	-	OMIM:150250
8985	PLOD3	HP:0001511	Intrauterine growth retardation	-	OMIM:150250
8985	PLOD3	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
8985	PLOD3	HP:0012368	Flat face	1/1	OMIM:612394
8985	PLOD3	HP:0012368	Flat face	-	OMIM:150250
8985	PLOD3	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
8985	PLOD3	HP:0007875	Congenital blindness	4/5	OMIM:259770
8985	PLOD3	HP:0007862	Retinal calcification	1/5	OMIM:259770
8985	PLOD3	HP:0002938	Lumbar hyperlordosis	-	OMIM:143095
8985	PLOD3	HP:0002948	Vertebral fusion	8/16	OMIM:150250
8985	PLOD3	HP:0002947	Cervical kyphosis	-	OMIM:150250
8985	PLOD3	HP:0002945	Intervertebral space narrowing	9/9	OMIM:143095
8985	PLOD3	HP:0005180	Tricuspid regurgitation	-	OMIM:143095
8985	PLOD3	HP:0000365	Hearing impairment	-	OMIM:143095
8985	PLOD3	HP:0000365	Hearing impairment	4/19	OMIM:150250
8985	PLOD3	HP:0000369	Low-set ears	-	OMIM:154780
8985	PLOD3	HP:0000369	Low-set ears	2/2	OMIM:612394
8985	PLOD3	HP:0000343	Long philtrum	HP:0040282	OMIM:143095
8985	PLOD3	HP:0000343	Long philtrum	-	OMIM:154780
8985	PLOD3	HP:0000337	Broad forehead	HP:0040282	OMIM:143095
8985	PLOD3	HP:0000347	Micrognathia	-	OMIM:154780
8985	PLOD3	HP:0002982	Tibial bowing	1/5	OMIM:259770
8985	PLOD3	HP:0002982	Tibial bowing	-	OMIM:143095
8985	PLOD3	HP:0002982	Tibial bowing	1/1	OMIM:156550
8985	PLOD3	HP:0001650	Aortic valve stenosis	-	OMIM:143095
8985	PLOD3	HP:0000316	Hypertelorism	-	OMIM:154780
8985	PLOD3	HP:0000316	Hypertelorism	-	OMIM:143095
8985	PLOD3	HP:0000316	Hypertelorism	-	OMIM:150250
8985	PLOD3	HP:0000311	Round face	-	OMIM:156550
8985	PLOD3	HP:0001642	Pulmonic stenosis	-	OMIM:143095
8985	PLOD3	HP:0001659	Aortic regurgitation	-	OMIM:143095
8985	PLOD3	HP:0002986	Radial bowing	-	OMIM:154780
8985	PLOD3	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
8985	PLOD3	HP:0001653	Mitral regurgitation	-	OMIM:143095
8985	PLOD3	HP:0001629	Ventricular septal defect	-	OMIM:143095
8985	PLOD3	HP:0001629	Ventricular septal defect	-	OMIM:259770
8985	PLOD3	HP:0001629	Ventricular septal defect	-	OMIM:150250
8985	PLOD3	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
8985	PLOD3	HP:0001623	Breech presentation	3/6	OMIM:143095
8985	PLOD3	HP:0002970	Genu varum	1/1	OMIM:156550
8985	PLOD3	HP:0000307	Pointed chin	1/2	OMIM:612394
8985	PLOD3	HP:0002967	Cubitus valgus	-	OMIM:143095
8985	PLOD3	HP:0001631	Atrial septal defect	-	OMIM:150250
8985	PLOD3	HP:0007957	Corneal opacity	-	OMIM:150250
8985	PLOD3	HP:0006610	Wide intermamillary distance	-	OMIM:143095
8985	PLOD3	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:154780
8985	PLOD3	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
8985	PLOD3	HP:0000407	Sensorineural hearing impairment	16/28	OMIM:184840
8985	PLOD3	HP:0000403	Recurrent otitis media	4/9	OMIM:154780
8985	PLOD3	HP:0000403	Recurrent otitis media	-	OMIM:156550
8985	PLOD3	HP:0000405	Conductive hearing impairment	-	OMIM:150250
8985	PLOD3	HP:0000405	Conductive hearing impairment	-	OMIM:156550
8985	PLOD3	HP:0001718	Mitral stenosis	-	OMIM:143095
8985	PLOD3	HP:0001714	Ventricular hypertrophy	-	OMIM:143095
8985	PLOD3	HP:0005280	Depressed nasal bridge	27/28	OMIM:184840
8985	PLOD3	HP:0005280	Depressed nasal bridge	-	OMIM:156550
8985	PLOD3	HP:0005280	Depressed nasal bridge	9/9	OMIM:154780
8985	PLOD3	HP:0005280	Depressed nasal bridge	-	OMIM:150250
8985	PLOD3	HP:0000478	Abnormality of the eye	0/3	OMIM:184840
8985	PLOD3	HP:0000463	Anteverted nares	27/28	OMIM:184840
8985	PLOD3	HP:0000463	Anteverted nares	-	OMIM:154780
8985	PLOD3	HP:0000463	Anteverted nares	1/1	OMIM:612394
8985	PLOD3	HP:0000470	Short neck	-	OMIM:143095
8985	PLOD3	HP:0000470	Short neck	-	OMIM:156550
8985	PLOD3	HP:0001799	Short nail	-	OMIM:150250
8985	PLOD3	HP:0001772	Talipes equinovalgus	-	OMIM:150250
8985	PLOD3	HP:0001763	Pes planus	-	OMIM:143095
8985	PLOD3	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
8985	PLOD3	HP:0001762	Talipes equinovarus	6/6	OMIM:143095
8985	PLOD3	HP:0001762	Talipes equinovarus	15/20	OMIM:150250
8985	PLOD3	HP:0025707	Hypoplastic fetal nasal bone	-	OMIM:154780
8985	PLOD3	HP:0005462	Calcification of falx cerebri	-	OMIM:154780
8985	PLOD3	HP:0000518	Cataract	1/5	OMIM:259770
8985	PLOD3	HP:0000518	Cataract	-	OMIM:156550
8985	PLOD3	HP:0000518	Cataract	-	OMIM:143200
8985	PLOD3	HP:0000518	Cataract	9/9	OMIM:154780
8985	PLOD3	HP:0000518	Cataract	1/1	OMIM:612394
8985	PLOD3	HP:0000520	Proptosis	-	OMIM:156550
8985	PLOD3	HP:0000501	Glaucoma	-	OMIM:154780
8985	PLOD3	HP:0000501	Glaucoma	-	OMIM:143200
8985	PLOD3	HP:0000586	Shallow orbits	-	OMIM:150250
8985	PLOD3	HP:0000586	Shallow orbits	1/1	OMIM:612394
8985	PLOD3	HP:0011220	Prominent forehead	-	OMIM:150250
8985	PLOD3	HP:0000572	Visual loss	-	OMIM:143200
8985	PLOD3	HP:0000568	Microphthalmia	1/5	OMIM:259770
8985	PLOD3	HP:0000565	Esotropia	-	OMIM:154780
8985	PLOD3	HP:0000541	Retinal detachment	-	OMIM:154780
8985	PLOD3	HP:0000541	Retinal detachment	-	OMIM:156550
8985	PLOD3	HP:0000533	Chorioretinal atrophy	-	OMIM:143200
8985	PLOD3	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
8985	PLOD3	HP:0000545	Myopia	1/1	OMIM:156550
8985	PLOD3	HP:0000545	Myopia	-	OMIM:143200
8985	PLOD3	HP:0000545	Myopia	9/9	OMIM:154780
8985	PLOD3	HP:0000545	Myopia	1/1	OMIM:612394
8988	HSPB3	HP:0001288	Gait disturbance	-	OMIM:613376
8988	HSPB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:613376
8988	HSPB3	HP:0008959	Distal upper limb muscle weakness	2/2	OMIM:613376
8988	HSPB3	HP:0008954	Intrinsic hand muscle atrophy	1/2	OMIM:613376
8988	HSPB3	HP:0008944	Distal lower limb amyotrophy	1/2	OMIM:613376
8988	HSPB3	HP:0003376	Steppage gait	2/2	OMIM:613376
8988	HSPB3	HP:0003388	Easy fatigability	1/2	OMIM:613376
8988	HSPB3	HP:0003445	EMG: neuropathic changes	2/2	OMIM:613376
8988	HSPB3	HP:0003438	Absent Achilles reflex	2/2	OMIM:613376
8988	HSPB3	HP:0003677	Slowly progressive	-	OMIM:613376
8988	HSPB3	HP:0009830	Peripheral neuropathy	-	OMIM:613376
8988	HSPB3	HP:0007149	Distal upper limb amyotrophy	1/2	OMIM:613376
8988	HSPB3	HP:0006844	Absent patellar reflexes	1/2	OMIM:613376
8988	HSPB3	HP:0009053	Distal lower limb muscle weakness	2/2	OMIM:613376
8988	HSPB3	HP:0011462	Young adult onset	2/2	OMIM:613376
8988	HSPB3	HP:0030237	Hand muscle weakness	2/2	OMIM:613376
8989	TRPA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615040
8989	TRPA1	HP:0003593	Infantile onset	-	OMIM:615040
8989	TRPA1	HP:0032148	Episodic pain	-	OMIM:615040
8991	SELENBP1	HP:0100812	Halitosis	4/4	OMIM:618148
8991	SELENBP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618148
8991	SELENBP1	HP:0003593	Infantile onset	1/4	OMIM:618148
8991	SELENBP1	HP:0003577	Congenital onset	2/4	OMIM:618148
8991	SELENBP1	HP:0025708	Early young adult onset	1/4	OMIM:618148
8996	NOL3	HP:0001251	Ataxia	4/11	OMIM:614937
8996	NOL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:614937
8996	NOL3	HP:0001336	Myoclonus	-	OMIM:614937
8996	NOL3	HP:0003596	Middle age onset	5/11	OMIM:614937
8996	NOL3	HP:0003584	Late onset	1/11	OMIM:614937
8996	NOL3	HP:0100785	Insomnia	10/11	OMIM:614937
8996	NOL3	HP:0002359	Frequent falls	8/11	OMIM:614937
8996	NOL3	HP:0002345	Action tremor	1/11	OMIM:614937
8996	NOL3	HP:0003677	Slowly progressive	-	OMIM:614937
8996	NOL3	HP:0011462	Young adult onset	5/11	OMIM:614937
8996	NOL3	HP:0034360	Action myoclonus	11/11	OMIM:614937
9015	TAF1A	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
9015	TAF1A	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
9015	TAF1A	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
9015	TAF1A	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
9015	TAF1A	HP:0003198	Myopathy	HP:0040283	ORPHA:154
9015	TAF1A	HP:0000969	Edema	HP:0040282	ORPHA:154
9015	TAF1A	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
9015	TAF1A	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
9015	TAF1A	HP:0012378	Fatigue	HP:0040282	ORPHA:154
9015	TAF1A	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
9015	TAF1A	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
9015	TAF1A	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
9015	TAF1A	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
9020	MAP3K14	HP:0100828	Increased total T cell count	1/3	OMIM:620449
9020	MAP3K14	HP:0500271	Decreased gamma-delta T cell proportion	1/1	OMIM:620449
9020	MAP3K14	HP:0010976	Decreased total B cell count	2/3	OMIM:620449
9020	MAP3K14	HP:0000007	Autosomal recessive inheritance	-	OMIM:620449
9020	MAP3K14	HP:0002783	Recurrent lower respiratory tract infections	1/1	OMIM:620449
9020	MAP3K14	HP:0002718	Recurrent bacterial infections	2/3	OMIM:620449
9020	MAP3K14	HP:0002728	Chronic mucocutaneous candidiasis	1/2	OMIM:620449
9020	MAP3K14	HP:0002720	Decreased circulating IgA concentration	3/3	OMIM:620449
9020	MAP3K14	HP:0002028	Chronic diarrhea	1/2	OMIM:620449
9020	MAP3K14	HP:0003593	Infantile onset	1/2	OMIM:620449
9020	MAP3K14	HP:0020086	BCGitis	1/3	OMIM:620449
9020	MAP3K14	HP:0020087	BCGosis	2/2	OMIM:620449
9020	MAP3K14	HP:0004315	Decreased circulating IgG concentration	2/2	OMIM:620449
9020	MAP3K14	HP:0011463	Childhood onset	2/3	OMIM:620449
9020	MAP3K14	HP:0004429	Recurrent viral infections	2/3	OMIM:620449
9020	MAP3K14	HP:0040218	Reduced total natural killer cell count	2/3	OMIM:620449
9020	MAP3K14	HP:0002850	Decreased circulating total IgM	3/3	OMIM:620449
9020	MAP3K14	HP:0005404	Increased total B cell count	1/3	OMIM:620449
9020	MAP3K14	HP:0005403	Decreased total T cell count	0/3	OMIM:620449
9020	MAP3K14	HP:0030388	Decreased class-switched memory B cell proportion	2/2	OMIM:620449
9031	BAZ1B	HP:0001181	Adducted thumb	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001297	Stroke	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0001288	Gait disturbance	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0001252	Hypotonia	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0001251	Ataxia	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0001249	Intellectual disability	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0001260	Dysarthria	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001257	Spasticity	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000093	Proteinuria	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000075	Renal duplication	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001387	Joint stiffness	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000014	Abnormality of the bladder	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0001361	Nystagmus-induced head nodding	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000025	Functional abnormality of male internal genitalia	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001337	Tremor	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0001310	Dysmetria	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0002650	Scoliosis	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0002623	Overriding aorta	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0000158	Macroglossia	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0000154	Wide mouth	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000125	Pelvic kidney	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0002024	Malabsorption	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0002019	Constipation	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0002027	Abdominal pain	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0100539	Periorbital edema	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0002141	Gait imbalance	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0002183	Phonophobia	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0010526	Dysgraphia	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0002253	Colonic diverticula	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0100785	Insomnia	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0002376	Developmental regression	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0010807	Open bite	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0008499	High hypermetropia	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0010780	Hyperacusis	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0002308	Chiari malformation	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0004295	Abnormal gastric mucosa morphology	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000635	Blue irides	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000691	Microdontia	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000670	Carious teeth	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0000668	Hypodontia	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0004322	Short stature	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0004305	Involuntary movements	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0004381	Supravalvular aortic stenosis	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0100025	Overfriendliness	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000739	Anxiety	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0000716	Depression	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0000717	Autism	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0004428	Elfin facies	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0003198	Myopathy	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0003196	Short nose	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0000826	Precocious puberty	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000822	Hypertension	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000960	Sacral dimple	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000939	Osteoporosis	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000938	Osteopenia	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0007720	Flat cornea	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000286	Epicanthus	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0000280	Coarse facial features	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0000275	Narrow face	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0002829	Arthralgia	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0002808	Kyphosis	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000252	Microcephaly	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0001582	Redundant skin	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0002857	Genu valgum	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001513	Obesity	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0001609	Hoarse voice	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0001618	Dysphonia	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000343	Long philtrum	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000337	Broad forehead	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000348	High forehead	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0000347	Micrognathia	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000307	Pointed chin	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0007957	Corneal opacity	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000400	Macrotia	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0000486	Strabismus	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000485	Megalocornea	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0000464	Abnormality of the neck	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0001763	Pes planus	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000411	Protruding ear	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0000518	Cataract	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001822	Hallux valgus	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000505	Visual impairment	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000501	Glaucoma	HP:0040283	ORPHA:904
9031	BAZ1B	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:904
9031	BAZ1B	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:904
9031	BAZ1B	HP:0000545	Myopia	HP:0040283	ORPHA:904
9037	SEMA5A	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:281
9037	SEMA5A	HP:0001252	Hypotonia	HP:0040281	ORPHA:281
9037	SEMA5A	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:281
9037	SEMA5A	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:281
9037	SEMA5A	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:281
9037	SEMA5A	HP:0002650	Scoliosis	HP:0040282	ORPHA:281
9037	SEMA5A	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:281
9037	SEMA5A	HP:0200046	Cat cry	HP:0040281	ORPHA:281
9037	SEMA5A	HP:0200055	Small hand	HP:0040282	ORPHA:281
9037	SEMA5A	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:281
9037	SEMA5A	HP:0004322	Short stature	HP:0040282	ORPHA:281
9037	SEMA5A	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:281
9037	SEMA5A	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:281
9037	SEMA5A	HP:0000286	Epicanthus	HP:0040281	ORPHA:281
9037	SEMA5A	HP:0000252	Microcephaly	HP:0040281	ORPHA:281
9037	SEMA5A	HP:0000218	High palate	HP:0040282	ORPHA:281
9037	SEMA5A	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:281
9037	SEMA5A	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:281
9037	SEMA5A	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:281
9037	SEMA5A	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:281
9037	SEMA5A	HP:0000316	Hypertelorism	HP:0040282	ORPHA:281
9037	SEMA5A	HP:0000311	Round face	HP:0040281	ORPHA:281
9037	SEMA5A	HP:0001620	Abnormally high-pitched voice	HP:0040281	ORPHA:281
9037	SEMA5A	HP:0000308	Microretrognathia	HP:0040281	ORPHA:281
9037	SEMA5A	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:281
9037	SEMA5A	HP:0000470	Short neck	HP:0040282	ORPHA:281
9037	SEMA5A	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:281
9049	AIP	HP:0001176	Large hands	HP:0040281	ORPHA:99725
9049	AIP	HP:0001176	Large hands	HP:0040281	ORPHA:963
9049	AIP	HP:0001182	Tapered finger	HP:0040281	ORPHA:963
9049	AIP	HP:0001123	Visual field defect	HP:0040283	ORPHA:963
9049	AIP	HP:0001117	Sudden loss of visual acuity	HP:0040283	ORPHA:2965
9049	AIP	HP:0100829	Galactorrhea	HP:0040281	ORPHA:2965
9049	AIP	HP:0100829	Galactorrhea	HP:0040283	ORPHA:99725
9049	AIP	HP:0100829	Galactorrhea	HP:0040283	ORPHA:963
9049	AIP	HP:0100829	Galactorrhea	-	OMIM:102200
9049	AIP	HP:0001250	Seizure	HP:0040283	ORPHA:2965
9049	AIP	HP:0007440	Generalized hyperpigmentation	HP:0040283	ORPHA:963
9049	AIP	HP:0100852	Abnormal fear-induced behavior	-	OMIM:219090
9049	AIP	HP:0003859	Cortical diaphyseal thickening of the upper limbs	HP:0040281	ORPHA:963
9049	AIP	HP:0000098	Tall stature	HP:0040281	ORPHA:99725
9049	AIP	HP:0012041	Decreased fertility in males	HP:0040281	ORPHA:2965
9049	AIP	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:2965
9049	AIP	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:963
9049	AIP	HP:0001386	Joint swelling	HP:0040281	ORPHA:963
9049	AIP	HP:0001345	Psychotic mentation	-	OMIM:219090
9049	AIP	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:2965
9049	AIP	HP:0006191	Deep palmar crease	HP:0040281	ORPHA:963
9049	AIP	HP:0000007	Autosomal recessive inheritance	-	OMIM:219090
9049	AIP	HP:0000006	Autosomal dominant inheritance	-	OMIM:219090
9049	AIP	HP:0000006	Autosomal dominant inheritance	-	OMIM:102200
9049	AIP	HP:0002615	Hypotension	HP:0040282	ORPHA:2965
9049	AIP	HP:0033794	Acral overgrowth	HP:0040281	ORPHA:963
9049	AIP	HP:0033794	Acral overgrowth	2/4	OMIM:102200
9049	AIP	HP:0012185	Constrictive median neuropathy	HP:0040282	ORPHA:963
9049	AIP	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:963
9049	AIP	HP:0000158	Macroglossia	HP:0040281	ORPHA:963
9049	AIP	HP:0000141	Amenorrhea	HP:0040281	ORPHA:2965
9049	AIP	HP:0000141	Amenorrhea	HP:0040282	ORPHA:99725
9049	AIP	HP:0000140	Abnormality of the menstrual cycle	HP:0040281	ORPHA:2965
9049	AIP	HP:0000135	Hypogonadism	HP:0040281	ORPHA:2965
9049	AIP	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:2965
9049	AIP	HP:0025406	Asthenia	HP:0040282	ORPHA:963
9049	AIP	HP:0002758	Osteoarthritis	HP:0040281	ORPHA:963
9049	AIP	HP:0001442	Typified by somatic mosaicism	-	OMIM:102200
9049	AIP	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:2965
9049	AIP	HP:0005987	Multinodular goiter	HP:0040282	ORPHA:963
9049	AIP	HP:0003326	Myalgia	HP:0040283	ORPHA:963
9049	AIP	HP:0002013	Vomiting	HP:0040282	ORPHA:2965
9049	AIP	HP:0002007	Frontal bossing	HP:0040282	ORPHA:963
9049	AIP	HP:0002007	Frontal bossing	HP:0040281	ORPHA:99725
9049	AIP	HP:0005978	Type II diabetes mellitus	HP:0040281	ORPHA:99725
9049	AIP	HP:0005978	Type II diabetes mellitus	HP:0040282	ORPHA:963
9049	AIP	HP:0100540	Palpebral edema	HP:0040282	ORPHA:963
9049	AIP	HP:0002076	Migraine	HP:0040282	ORPHA:963
9049	AIP	HP:0003388	Easy fatigability	HP:0040282	ORPHA:2965
9049	AIP	HP:0100518	Dysuria	HP:0040283	ORPHA:963
9049	AIP	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040281	ORPHA:99725
9049	AIP	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040281	ORPHA:963
9049	AIP	HP:0011760	Pituitary growth hormone cell adenoma	-	OMIM:102200
9049	AIP	HP:0011748	Adrenocorticotropic hormone deficiency	HP:0040282	ORPHA:2965
9049	AIP	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:2965
9049	AIP	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	HP:0040282	ORPHA:2965
9049	AIP	HP:0040270	Impaired glucose tolerance	-	OMIM:219090
9049	AIP	HP:0002155	Hypertriglyceridemia	HP:0040283	ORPHA:963
9049	AIP	HP:0003416	Spinal canal stenosis	HP:0040282	ORPHA:963
9049	AIP	HP:0010609	Skin tags	HP:0040282	ORPHA:963
9049	AIP	HP:0008240	Secondary growth hormone deficiency	HP:0040282	ORPHA:2965
9049	AIP	HP:0008245	Pituitary hypothyroidism	HP:0040283	ORPHA:963
9049	AIP	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:2965
9049	AIP	HP:0010541	Cutis gyrata of scalp	HP:0040283	ORPHA:963
9049	AIP	HP:0010535	Sleep apnea	HP:0040282	ORPHA:963
9049	AIP	HP:0003401	Paresthesia	HP:0040282	ORPHA:963
9049	AIP	HP:0046504	Decreased libido	HP:0040283	ORPHA:963
9049	AIP	HP:0002230	Generalized hirsutism	HP:0040282	ORPHA:963
9049	AIP	HP:0100786	Hypersomnia	HP:0040283	ORPHA:963
9049	AIP	HP:0007011	Fourth cranial nerve palsy	HP:0040283	ORPHA:2965
9049	AIP	HP:0001058	Poor wound healing	-	OMIM:219090
9049	AIP	HP:0001051	Seborrheic dermatitis	HP:0040281	ORPHA:963
9049	AIP	HP:0001065	Striae distensae	-	OMIM:219090
9049	AIP	HP:0001061	Acne	HP:0040283	ORPHA:963
9049	AIP	HP:0001041	Facial erythema	-	OMIM:219090
9049	AIP	HP:0001007	Hirsutism	-	OMIM:219090
9049	AIP	HP:0002321	Vertigo	HP:0040283	ORPHA:2965
9049	AIP	HP:0002315	Headache	HP:0040282	ORPHA:2965
9049	AIP	HP:0002315	Headache	HP:0040283	ORPHA:963
9049	AIP	HP:0100607	Dysmenorrhea	HP:0040282	ORPHA:963
9049	AIP	HP:0001072	Thickened skin	HP:0040281	ORPHA:963
9049	AIP	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:963
9049	AIP	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:2965
9049	AIP	HP:0030517	Heteronymous hemianopia	HP:0040283	ORPHA:2965
9049	AIP	HP:0030521	Bitemporal hemianopia	HP:0040283	ORPHA:2965
9049	AIP	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:2965
9049	AIP	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:963
9049	AIP	HP:0006897	Abducens palsy	HP:0040283	ORPHA:2965
9049	AIP	HP:0000651	Diplopia	HP:0040283	ORPHA:2965
9049	AIP	HP:0001948	Alkalosis	-	OMIM:219090
9049	AIP	HP:0000618	Blindness	HP:0040283	ORPHA:2965
9049	AIP	HP:0001952	Glucose intolerance	-	OMIM:219090
9049	AIP	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:963
9049	AIP	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:2965
9049	AIP	HP:0011334	Facial shape deformation	HP:0040282	ORPHA:963
9049	AIP	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:963
9049	AIP	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:963
9049	AIP	HP:0000664	Synophrys	HP:0040282	ORPHA:963
9049	AIP	HP:0005616	Accelerated skeletal maturation	HP:0040281	ORPHA:99725
9049	AIP	HP:0000802	Impotence	HP:0040283	ORPHA:963
9049	AIP	HP:0000802	Impotence	HP:0040281	ORPHA:2965
9049	AIP	HP:0012743	Abdominal obesity	-	OMIM:219090
9049	AIP	HP:0011407	Proportionate tall stature	HP:0040281	ORPHA:99725
9049	AIP	HP:0000771	Gynecomastia	HP:0040282	ORPHA:2965
9049	AIP	HP:0000739	Anxiety	HP:0040282	ORPHA:963
9049	AIP	HP:0000716	Depression	HP:0040282	ORPHA:963
9049	AIP	HP:0000712	Emotional lability	-	OMIM:219090
9049	AIP	HP:0011462	Young adult onset	2/2	OMIM:102200
9049	AIP	HP:0000789	Infertility	HP:0040283	ORPHA:963
9049	AIP	HP:0000787	Nephrolithiasis	-	OMIM:219090
9049	AIP	HP:0003154	Increased circulating ACTH level	-	OMIM:219090
9049	AIP	HP:0000876	Oligomenorrhea	HP:0040283	ORPHA:963
9049	AIP	HP:0000876	Oligomenorrhea	-	OMIM:219090
9049	AIP	HP:0000858	Irregular menstruation	-	OMIM:102200
9049	AIP	HP:0000858	Irregular menstruation	HP:0040281	ORPHA:2965
9049	AIP	HP:0000855	Insulin resistance	HP:0040282	ORPHA:963
9049	AIP	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:963
9049	AIP	HP:0000870	Increased circulating prolactin concentration	-	OMIM:102200
9049	AIP	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:99725
9049	AIP	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:963
9049	AIP	HP:0000868	Decreased fertility in females	HP:0040281	ORPHA:2965
9049	AIP	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:963
9049	AIP	HP:0000830	Anterior hypopituitarism	HP:0040283	ORPHA:2965
9049	AIP	HP:0000846	Adrenal insufficiency	HP:0040283	ORPHA:963
9049	AIP	HP:0000845	Elevated circulating growth hormone concentration	HP:0040281	ORPHA:963
9049	AIP	HP:0000845	Elevated circulating growth hormone concentration	-	OMIM:102200
9049	AIP	HP:0000845	Elevated circulating growth hormone concentration	HP:0040283	ORPHA:2965
9049	AIP	HP:0000845	Elevated circulating growth hormone concentration	HP:0040281	ORPHA:99725
9049	AIP	HP:0012802	Broad jaw	HP:0040282	ORPHA:963
9049	AIP	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:963
9049	AIP	HP:0000818	Abnormality of the endocrine system	HP:0040281	ORPHA:963
9049	AIP	HP:0000822	Hypertension	-	OMIM:102200
9049	AIP	HP:0000822	Hypertension	-	OMIM:219090
9049	AIP	HP:0000822	Hypertension	HP:0040282	ORPHA:963
9049	AIP	HP:0000823	Delayed puberty	HP:0040283	ORPHA:2965
9049	AIP	HP:0003233	Decreased HDL cholesterol concentration	HP:0040283	ORPHA:963
9049	AIP	HP:0003202	Skeletal muscle atrophy	-	OMIM:219090
9049	AIP	HP:0004586	Biconcave vertebral bodies	-	OMIM:219090
9049	AIP	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:963
9049	AIP	HP:0000980	Pallor	HP:0040282	ORPHA:2965
9049	AIP	HP:0000979	Purpura	-	OMIM:219090
9049	AIP	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:963
9049	AIP	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:99725
9049	AIP	HP:0000978	Bruising susceptibility	-	OMIM:219090
9049	AIP	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:963
9049	AIP	HP:0000969	Edema	-	OMIM:219090
9049	AIP	HP:0000963	Thin skin	-	OMIM:219090
9049	AIP	HP:0000939	Osteoporosis	HP:0040282	ORPHA:2965
9049	AIP	HP:0000939	Osteoporosis	-	OMIM:219090
9049	AIP	HP:0000938	Osteopenia	HP:0040282	ORPHA:2965
9049	AIP	HP:0011675	Arrhythmia	HP:0040283	ORPHA:963
9049	AIP	HP:0000280	Coarse facial features	HP:0040281	ORPHA:963
9049	AIP	HP:0000280	Coarse facial features	-	OMIM:102200
9049	AIP	HP:0000280	Coarse facial features	HP:0040281	ORPHA:99725
9049	AIP	HP:0000293	Full cheeks	HP:0040281	ORPHA:963
9049	AIP	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:2965
9049	AIP	HP:0000276	Long face	HP:0040281	ORPHA:963
9049	AIP	HP:0002829	Arthralgia	HP:0040281	ORPHA:963
9049	AIP	HP:0002808	Kyphosis	-	OMIM:219090
9049	AIP	HP:0002808	Kyphosis	HP:0040282	ORPHA:963
9049	AIP	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:963
9049	AIP	HP:0002893	Pituitary adenoma	3/4	OMIM:102200
9049	AIP	HP:0002893	Pituitary adenoma	-	OMIM:219090
9049	AIP	HP:0030018	Decreased female libido	HP:0040281	ORPHA:2965
9049	AIP	HP:0030016	Dyspareunia	HP:0040282	ORPHA:2965
9049	AIP	HP:0031364	Ecchymosis	-	OMIM:219090
9049	AIP	HP:0001513	Obesity	-	OMIM:219090
9049	AIP	HP:0025693	Pituitary macroadenoma	HP:0040282	ORPHA:963
9049	AIP	HP:0012378	Fatigue	HP:0040282	ORPHA:2965
9049	AIP	HP:0012378	Fatigue	HP:0040281	ORPHA:963
9049	AIP	HP:0012377	Hemianopia	HP:0040283	ORPHA:2965
9049	AIP	HP:0005266	Intestinal polyp	HP:0040283	ORPHA:963
9049	AIP	HP:0001609	Hoarse voice	HP:0040282	ORPHA:963
9049	AIP	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:2965
9049	AIP	HP:0002900	Hypokalemia	-	OMIM:219090
9049	AIP	HP:0000337	Broad forehead	HP:0040281	ORPHA:963
9049	AIP	HP:0000336	Prominent supraorbital ridges	HP:0040282	ORPHA:963
9049	AIP	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:963
9049	AIP	HP:0002953	Vertebral compression fracture	HP:0040283	ORPHA:963
9049	AIP	HP:0002953	Vertebral compression fracture	-	OMIM:219090
9049	AIP	HP:0030166	Night sweats	HP:0040283	ORPHA:963
9049	AIP	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:963
9049	AIP	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:99725
9049	AIP	HP:0001638	Cardiomyopathy	-	OMIM:102200
9049	AIP	HP:0000303	Mandibular prognathia	HP:0040281	ORPHA:963
9049	AIP	HP:0000303	Mandibular prognathia	HP:0040281	ORPHA:99725
9049	AIP	HP:0007942	Internal ophthalmoplegia	HP:0040283	ORPHA:2965
9049	AIP	HP:0031653	Abnormal heart valve physiology	HP:0040283	ORPHA:963
9049	AIP	HP:0000400	Macrotia	HP:0040281	ORPHA:963
9049	AIP	HP:0001712	Left ventricular hypertrophy	-	OMIM:102200
9049	AIP	HP:0001712	Left ventricular hypertrophy	HP:0040281	ORPHA:99725
9049	AIP	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:963
9049	AIP	HP:0012452	Restless legs	HP:0040283	ORPHA:963
9049	AIP	HP:0001769	Broad foot	HP:0040281	ORPHA:963
9049	AIP	HP:0030269	Increased circulating insulin-like growth factor 1 concentration	HP:0040281	ORPHA:99725
9049	AIP	HP:0030269	Increased circulating insulin-like growth factor 1 concentration	HP:0040282	ORPHA:963
9049	AIP	HP:0030269	Increased circulating insulin-like growth factor 1 concentration	-	OMIM:102200
9049	AIP	HP:0012411	Premature pubarche	HP:0040281	ORPHA:99725
9049	AIP	HP:0000445	Wide nose	HP:0040281	ORPHA:963
9049	AIP	HP:0006767	Pituitary prolactin cell adenoma	HP:0040282	ORPHA:99725
9049	AIP	HP:0006767	Pituitary prolactin cell adenoma	HP:0040283	ORPHA:963
9049	AIP	HP:0006767	Pituitary prolactin cell adenoma	20/20	OMIM:102200
9049	AIP	HP:0012503	Abnormal pituitary gland morphology	HP:0040281	ORPHA:2965
9049	AIP	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:2965
9049	AIP	HP:0000508	Ptosis	HP:0040283	ORPHA:2965
9049	AIP	HP:0001833	Long foot	HP:0040281	ORPHA:99725
9049	AIP	HP:0004099	Macrodactyly	HP:0040281	ORPHA:963
9049	AIP	HP:0001869	Deep plantar creases	HP:0040281	ORPHA:963
9051	PSTPIP1	HP:0002583	Colitis	1/1	OMIM:604416
9051	PSTPIP1	HP:0000093	Proteinuria	HP:0040283	ORPHA:69126
9051	PSTPIP1	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:69126
9051	PSTPIP1	HP:0001369	Arthritis	1/1	OMIM:604416
9051	PSTPIP1	HP:0001369	Arthritis	HP:0040281	ORPHA:69126
9051	PSTPIP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:604416
9051	PSTPIP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:601979
9051	PSTPIP1	HP:0002633	Vasculitis	-	OMIM:601979
9051	PSTPIP1	HP:0025452	Pyoderma gangrenosum	1/1	OMIM:604416
9051	PSTPIP1	HP:0001433	Hepatosplenomegaly	1/1	OMIM:604416
9051	PSTPIP1	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:69126
9051	PSTPIP1	HP:0002721	Immunodeficiency	-	OMIM:601979
9051	PSTPIP1	HP:0040310	Sterile arthritis	9/10	OMIM:604416
9051	PSTPIP1	HP:0002014	Diarrhea	-	OMIM:601979
9051	PSTPIP1	HP:0033188	Cystic acne	7/10	OMIM:604416
9051	PSTPIP1	HP:0002240	Hepatomegaly	-	OMIM:601979
9051	PSTPIP1	HP:0010702	Increased circulating immunoglobulin concentration	HP:0040282	ORPHA:69126
9051	PSTPIP1	HP:0001061	Acne	11/11	OMIM:604416
9051	PSTPIP1	HP:0001061	Acne	HP:0040281	ORPHA:69126
9051	PSTPIP1	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:69126
9051	PSTPIP1	HP:0100658	Cellulitis	1/1	OMIM:604416
9051	PSTPIP1	HP:0100614	Myositis	HP:0040283	ORPHA:69126
9051	PSTPIP1	HP:0200039	Pustule	HP:0040281	ORPHA:69126
9051	PSTPIP1	HP:0200042	Skin ulcer	HP:0040281	ORPHA:69126
9051	PSTPIP1	HP:0001945	Fever	HP:0040281	ORPHA:69126
9051	PSTPIP1	HP:0001935	Microcytic anemia	1/1	OMIM:604416
9051	PSTPIP1	HP:0012649	Increased inflammatory response	HP:0040283	ORPHA:69126
9051	PSTPIP1	HP:0011424	Increased serum zinc	-	OMIM:601979
9051	PSTPIP1	HP:0100280	Crohn's disease	HP:0040283	ORPHA:69126
9051	PSTPIP1	HP:0000988	Skin rash	-	OMIM:601979
9051	PSTPIP1	HP:0000939	Osteoporosis	-	OMIM:601979
9051	PSTPIP1	HP:0002829	Arthralgia	HP:0040282	ORPHA:69126
9051	PSTPIP1	HP:0006380	Knee flexion contracture	1/1	OMIM:604416
9051	PSTPIP1	HP:0012393	Allergy	1/1	OMIM:604416
9051	PSTPIP1	HP:0012378	Fatigue	HP:0040281	ORPHA:69126
9051	PSTPIP1	HP:0025616	Sterile abscess	-	OMIM:604416
9051	PSTPIP1	HP:0002987	Elbow flexion contracture	1/1	OMIM:604416
9051	PSTPIP1	HP:0011227	Elevated circulating C-reactive protein concentration	1/1	OMIM:604416
9051	PSTPIP1	HP:0001894	Thrombocytosis	1/1	OMIM:604416
9051	PSTPIP1	HP:0001876	Pancytopenia	-	OMIM:604416
9054	NFS1	HP:0001254	Lethargy	6/6	OMIM:619386
9054	NFS1	HP:0001250	Seizure	2/5	OMIM:619386
9054	NFS1	HP:0001252	Hypotonia	6/6	OMIM:619386
9054	NFS1	HP:0410288	Hyperamylasemia	1/5	OMIM:619386
9054	NFS1	HP:0000083	Renal insufficiency	2/3	OMIM:619386
9054	NFS1	HP:0001397	Hepatic steatosis	2/2	OMIM:619386
9054	NFS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619386
9054	NFS1	HP:0003355	Aminoaciduria	2/2	OMIM:619386
9054	NFS1	HP:0003348	Hyperalaninemia	2/3	OMIM:619386
9054	NFS1	HP:0002039	Anorexia	3/3	OMIM:619386
9054	NFS1	HP:0002154	Hyperglycinemia	3/3	OMIM:619386
9054	NFS1	HP:0002151	Increased circulating lactate concentration	6/6	OMIM:619386
9054	NFS1	HP:0011924	Decreased activity of mitochondrial complex III	-	OMIM:619386
9054	NFS1	HP:0008314	Decreased activity of mitochondrial complex II	-	OMIM:619386
9054	NFS1	HP:0003648	Lacticaciduria	2/3	OMIM:619386
9054	NFS1	HP:0005521	Disseminated intravascular coagulation	4/5	OMIM:619386
9054	NFS1	HP:0001943	Hypoglycemia	4/6	OMIM:619386
9054	NFS1	HP:0001942	Metabolic acidosis	3/3	OMIM:619386
9054	NFS1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	3/3	OMIM:619386
9054	NFS1	HP:0031964	Elevated circulating alanine aminotransferase concentration	3/3	OMIM:619386
9054	NFS1	HP:0000846	Adrenal insufficiency	1/3	OMIM:619386
9054	NFS1	HP:0003236	Elevated circulating creatine kinase concentration	3/3	OMIM:619386
9054	NFS1	HP:0002878	Respiratory failure	4/6	OMIM:619386
9054	NFS1	HP:0001522	Death in infancy	2/3	OMIM:619386
9054	NFS1	HP:0001639	Hypertrophic cardiomyopathy	1/3	OMIM:619386
9054	NFS1	HP:0001733	Pancreatitis	1/3	OMIM:619386
9056	SLC7A7	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:222700
9056	SLC7A7	HP:0500142	Hypolysinemia	10/10	OMIM:222700
9056	SLC7A7	HP:0001254	Lethargy	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0001252	Hypotonia	4/9	OMIM:222700
9056	SLC7A7	HP:0001249	Intellectual disability	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0001249	Intellectual disability	2/4	OMIM:222700
9056	SLC7A7	HP:0001263	Global developmental delay	10/10	OMIM:222700
9056	SLC7A7	HP:0001259	Coma	-	OMIM:222700
9056	SLC7A7	HP:0001259	Coma	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0002570	Steatorrhea	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0000099	Glomerulonephritis	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0000091	Abnormal renal tubule morphology	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0000093	Proteinuria	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0001399	Hepatic failure	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0001394	Cirrhosis	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0001324	Muscle weakness	-	OMIM:222700
9056	SLC7A7	HP:0000007	Autosomal recessive inheritance	-	OMIM:222700
9056	SLC7A7	HP:0012156	Hemophagocytosis	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0012156	Hemophagocytosis	-	OMIM:222700
9056	SLC7A7	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0008947	Floppy infant	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0000121	Nephrocalcinosis	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0000124	Renal tubular dysfunction	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0002757	Recurrent fractures	-	OMIM:222700
9056	SLC7A7	HP:0002756	Pathologic fracture	HP:0040284	ORPHA:470
9056	SLC7A7	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0002750	Delayed skeletal maturation	-	OMIM:222700
9056	SLC7A7	HP:0002718	Recurrent bacterial infections	HP:0040284	ORPHA:470
9056	SLC7A7	HP:0003355	Aminoaciduria	-	OMIM:222700
9056	SLC7A7	HP:0002018	Nausea	-	OMIM:222700
9056	SLC7A7	HP:0003348	Hyperalaninemia	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0002014	Diarrhea	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0002014	Diarrhea	-	OMIM:222700
9056	SLC7A7	HP:0002013	Vomiting	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0002013	Vomiting	-	OMIM:222700
9056	SLC7A7	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0002093	Respiratory insufficiency	1/4	OMIM:222700
9056	SLC7A7	HP:0002038	Protein avoidance	9/10	OMIM:222700
9056	SLC7A7	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0002154	Hyperglycinemia	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0002151	Increased circulating lactate concentration	-	OMIM:222700
9056	SLC7A7	HP:0011900	Hypofibrinogenemia	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0003493	Antinuclear antibody positivity	HP:0040284	ORPHA:470
9056	SLC7A7	HP:0003593	Infantile onset	10/10	OMIM:222700
9056	SLC7A7	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0002240	Hepatomegaly	8/10	OMIM:222700
9056	SLC7A7	HP:0003532	Ornithinuria	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0002213	Fine hair	-	OMIM:222700
9056	SLC7A7	HP:0002206	Pulmonary fibrosis	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0010702	Increased circulating immunoglobulin concentration	HP:0040284	ORPHA:470
9056	SLC7A7	HP:0010701	Abnormal circulating immunoglobulin concentration	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0008358	Hyperprolinemia	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0011966	Elevated plasma citrulline	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0005548	Megakaryocytopenia	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0001970	Tubulointerstitial nephritis	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0001947	Renal tubular acidosis	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0001956	Truncal obesity	-	OMIM:222700
9056	SLC7A7	HP:0001903	Anemia	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0001903	Anemia	4/7	OMIM:222700
9056	SLC7A7	HP:0001917	Renal amyloidosis	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0001987	Hyperammonemia	-	OMIM:222700
9056	SLC7A7	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0004322	Short stature	-	OMIM:222700
9056	SLC7A7	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040284	ORPHA:470
9056	SLC7A7	HP:0004395	Malnutrition	-	OMIM:222700
9056	SLC7A7	HP:0000725	Psychotic episodes	HP:0040283	OMIM:222700
9056	SLC7A7	HP:0000790	Hematuria	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0011424	Increased serum zinc	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0004431	Reduced circulating complement concentration	HP:0040284	ORPHA:470
9056	SLC7A7	HP:0030760	Renal fibrosis	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0003141	Increased LDL cholesterol concentration	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0000822	Hypertension	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040284	ORPHA:470
9056	SLC7A7	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0003217	Hyperglutaminemia	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0003218	Oroticaciduria	-	OMIM:222700
9056	SLC7A7	HP:0003218	Oroticaciduria	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0003202	Skeletal muscle atrophy	-	OMIM:222700
9056	SLC7A7	HP:0040223	Pulmonary hemorrhage	-	OMIM:222700
9056	SLC7A7	HP:0003297	Hyperlysinuria	10/10	OMIM:222700
9056	SLC7A7	HP:0003297	Hyperlysinuria	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0003281	Increased circulating ferritin concentration	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0003281	Increased circulating ferritin concentration	-	OMIM:222700
9056	SLC7A7	HP:0003268	Argininuria	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0000974	Hyperextensible skin	-	OMIM:222700
9056	SLC7A7	HP:0000973	Cutis laxa	-	OMIM:222700
9056	SLC7A7	HP:0000939	Osteoporosis	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0000939	Osteoporosis	5/6	OMIM:222700
9056	SLC7A7	HP:0000938	Osteopenia	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0008070	Sparse hair	-	OMIM:222700
9056	SLC7A7	HP:0012280	Hepatic amyloidosis	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0012278	Abnormal circulating serine concentration	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0012213	Decreased glomerular filtration rate	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0001508	Failure to thrive	HP:0040281	ORPHA:470
9056	SLC7A7	HP:0001508	Failure to thrive	-	OMIM:222700
9056	SLC7A7	HP:0001510	Growth delay	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0006517	Intraalveolar phospholipid accumulation	-	OMIM:222700
9056	SLC7A7	HP:0006517	Intraalveolar phospholipid accumulation	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0005368	Abnormality of humoral immunity	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0001733	Pancreatitis	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0001733	Pancreatitis	-	OMIM:222700
9056	SLC7A7	HP:0001744	Splenomegaly	-	OMIM:222700
9056	SLC7A7	HP:0012578	Membranous nephropathy	HP:0040283	ORPHA:470
9056	SLC7A7	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0012523	Oral aversion	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0001882	Decreased total leukocyte count	-	OMIM:222700
9056	SLC7A7	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:470
9056	SLC7A7	HP:0001873	Thrombocytopenia	-	OMIM:222700
9060	PAPSS2	HP:0001156	Brachydactyly	-	OMIM:612847
9060	PAPSS2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9060	PAPSS2	HP:0001293	Cranial nerve compression	-	OMIM:131300
9060	PAPSS2	HP:0001252	Hypotonia	2/7	OMIM:615777
9060	PAPSS2	HP:0001249	Intellectual disability	5/7	OMIM:615777
9060	PAPSS2	HP:0001263	Global developmental delay	-	OMIM:615777
9060	PAPSS2	HP:0002515	Waddling gait	54/102	OMIM:131300
9060	PAPSS2	HP:0001382	Joint hypermobility	-	OMIM:615777
9060	PAPSS2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9060	PAPSS2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9060	PAPSS2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9060	PAPSS2	HP:0001324	Muscle weakness	40/96	OMIM:131300
9060	PAPSS2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9060	PAPSS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:612847
9060	PAPSS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9060	PAPSS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9060	PAPSS2	HP:0002650	Scoliosis	12/14	OMIM:131300
9060	PAPSS2	HP:0002651	Spondyloepimetaphyseal dysplasia	-	OMIM:612847
9060	PAPSS2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9060	PAPSS2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9060	PAPSS2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9060	PAPSS2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9060	PAPSS2	HP:0000175	Cleft palate	2/7	OMIM:615777
9060	PAPSS2	HP:0002751	Kyphoscoliosis	-	OMIM:612847
9060	PAPSS2	HP:0003301	Irregular vertebral endplates	-	OMIM:612847
9060	PAPSS2	HP:0004626	Lumbar scoliosis	-	OMIM:612847
9060	PAPSS2	HP:0003388	Easy fatigability	36/76	OMIM:131300
9060	PAPSS2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9060	PAPSS2	HP:0003510	Severe short stature	7/7	OMIM:615777
9060	PAPSS2	HP:0001061	Acne	-	OMIM:612847
9060	PAPSS2	HP:0001007	Hirsutism	-	OMIM:612847
9060	PAPSS2	HP:0002315	Headache	-	OMIM:131300
9060	PAPSS2	HP:0004976	Knee dislocation	6/7	OMIM:615777
9060	PAPSS2	HP:0009816	Lower limb undergrowth	-	OMIM:612847
9060	PAPSS2	HP:0009803	Short phalanx of finger	-	OMIM:615777
9060	PAPSS2	HP:0009763	Limb pain	63/92	OMIM:131300
9060	PAPSS2	HP:0003621	Juvenile onset	-	OMIM:131300
9060	PAPSS2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9060	PAPSS2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9060	PAPSS2	HP:6001056	Out-toeing	-	OMIM:131300
9060	PAPSS2	HP:0000651	Diplopia	-	OMIM:131300
9060	PAPSS2	HP:0001956	Truncal obesity	2/7	OMIM:615777
9060	PAPSS2	HP:0001903	Anemia	HP:0040283	OMIM:131300
9060	PAPSS2	HP:0010049	Short metacarpal	-	OMIM:615777
9060	PAPSS2	HP:0000678	Dental crowding	-	OMIM:615777
9060	PAPSS2	HP:0000670	Carious teeth	-	OMIM:131300
9060	PAPSS2	HP:0011304	Broad thumb	2/7	OMIM:615777
9060	PAPSS2	HP:0000668	Hypodontia	-	OMIM:615777
9060	PAPSS2	HP:0000664	Synophrys	-	OMIM:615777
9060	PAPSS2	HP:0004322	Short stature	-	OMIM:612847
9060	PAPSS2	HP:0004396	Poor appetite	-	OMIM:131300
9060	PAPSS2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9060	PAPSS2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9060	PAPSS2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9060	PAPSS2	HP:0003026	Short long bone	7/7	OMIM:615777
9060	PAPSS2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9060	PAPSS2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9060	PAPSS2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9060	PAPSS2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9060	PAPSS2	HP:0000750	Delayed speech and language development	-	OMIM:615777
9060	PAPSS2	HP:0011461	Fetal onset	7/7	OMIM:615777
9060	PAPSS2	HP:0000774	Narrow chest	2/7	OMIM:615777
9060	PAPSS2	HP:0000926	Platyspondyly	1/7	OMIM:615777
9060	PAPSS2	HP:0000926	Platyspondyly	-	OMIM:612847
9060	PAPSS2	HP:0003180	Flat acetabular roof	-	OMIM:615777
9060	PAPSS2	HP:0004482	Relative macrocephaly	-	OMIM:615777
9060	PAPSS2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9060	PAPSS2	HP:0000869	Secondary amenorrhea	-	OMIM:612847
9060	PAPSS2	HP:0000823	Delayed puberty	-	OMIM:131300
9060	PAPSS2	HP:0000894	Short clavicles	-	OMIM:615777
9060	PAPSS2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9060	PAPSS2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9060	PAPSS2	HP:0000286	Epicanthus	1/7	OMIM:615777
9060	PAPSS2	HP:0000280	Coarse facial features	2/7	OMIM:615777
9060	PAPSS2	HP:0002827	Hip dislocation	3/7	OMIM:615777
9060	PAPSS2	HP:0000252	Microcephaly	-	OMIM:615777
9060	PAPSS2	HP:0002857	Genu valgum	-	OMIM:131300
9060	PAPSS2	HP:0001533	Slender build	-	OMIM:131300
9060	PAPSS2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9060	PAPSS2	HP:0007807	Optic nerve compression	-	OMIM:131300
9060	PAPSS2	HP:0012368	Flat face	7/7	OMIM:615777
9060	PAPSS2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9060	PAPSS2	HP:0000365	Hearing impairment	10/67	OMIM:131300
9060	PAPSS2	HP:0000343	Long philtrum	1/7	OMIM:615777
9060	PAPSS2	HP:0011001	Increased bone mineral density	-	OMIM:131300
9060	PAPSS2	HP:0002979	Bowing of the legs	-	OMIM:612847
9060	PAPSS2	HP:0000311	Round face	2/7	OMIM:615777
9060	PAPSS2	HP:0002970	Genu varum	-	OMIM:615777
9060	PAPSS2	HP:0000303	Mandibular prognathia	-	OMIM:131300
9060	PAPSS2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9060	PAPSS2	HP:0000470	Short neck	1/7	OMIM:615777
9060	PAPSS2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9060	PAPSS2	HP:0001763	Pes planus	1/7	OMIM:615777
9060	PAPSS2	HP:0012411	Premature pubarche	-	OMIM:612847
9060	PAPSS2	HP:0001840	Metatarsus adductus	-	OMIM:615777
9060	PAPSS2	HP:0000520	Proptosis	2/4	OMIM:131300
9060	PAPSS2	HP:0000520	Proptosis	7/7	OMIM:615777
9060	PAPSS2	HP:0000592	Blue sclerae	2/7	OMIM:615777
9060	PAPSS2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9060	PAPSS2	HP:0012514	Lower limb pain	4/4	OMIM:131300
9071	CLDN10	HP:0000083	Renal insufficiency	-	OMIM:617671
9071	CLDN10	HP:0000007	Autosomal recessive inheritance	-	OMIM:617671
9071	CLDN10	HP:0000103	Polyuria	-	OMIM:617671
9071	CLDN10	HP:0002046	Heat intolerance	-	OMIM:617671
9071	CLDN10	HP:0003577	Congenital onset	13/13	OMIM:617671
9071	CLDN10	HP:0001959	Polydipsia	-	OMIM:617671
9071	CLDN10	HP:0000787	Nephrolithiasis	4/13	OMIM:617671
9071	CLDN10	HP:0003127	Hypocalciuria	-	OMIM:617671
9071	CLDN10	HP:0000843	Hyperparathyroidism	2/2	OMIM:617671
9071	CLDN10	HP:0000958	Dry skin	-	OMIM:617671
9071	CLDN10	HP:0000970	Anhidrosis	13/13	OMIM:617671
9071	CLDN10	HP:0000966	Hypohidrosis	-	OMIM:617671
9071	CLDN10	HP:0000217	Xerostomia	13/13	OMIM:617671
9071	CLDN10	HP:0002918	Hypermagnesemia	6/6	OMIM:617671
9071	CLDN10	HP:0002900	Hypokalemia	-	OMIM:617671
9071	CLDN10	HP:0000522	Alacrima	13/13	OMIM:617671
9075	CLDN2	HP:0033808	Spermatocele	3/3	OMIM:301060
9075	CLDN2	HP:0001419	X-linked recessive inheritance	-	OMIM:301060
9075	CLDN2	HP:0011962	Obstructive azoospermia	3/3	OMIM:301060
9075	CLDN2	HP:0000787	Nephrolithiasis	3/3	OMIM:301060
9075	CLDN2	HP:0003251	Male infertility	9/9	OMIM:301060
9076	CLDN1	HP:0001249	Intellectual disability	1/3	OMIM:607626
9076	CLDN1	HP:0100874	Thick hair	-	OMIM:607626
9076	CLDN1	HP:0001396	Cholestasis	HP:0040281	ORPHA:59303
9076	CLDN1	HP:0001396	Cholestasis	4/4	OMIM:607626
9076	CLDN1	HP:0001399	Hepatic failure	1/4	OMIM:607626
9076	CLDN1	HP:0001395	Hepatic fibrosis	3/3	OMIM:607626
9076	CLDN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:607626
9076	CLDN1	HP:0006297	Enamel hypoplasia	2/3	OMIM:607626
9076	CLDN1	HP:0001409	Portal hypertension	HP:0040283	ORPHA:59303
9076	CLDN1	HP:0001409	Portal hypertension	3/4	OMIM:607626
9076	CLDN1	HP:0001408	Bile duct proliferation	2/3	OMIM:607626
9076	CLDN1	HP:0030991	Sclerosing cholangitis	3/3	OMIM:607626
9076	CLDN1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:59303
9076	CLDN1	HP:0002240	Hepatomegaly	4/4	OMIM:607626
9076	CLDN1	HP:0002231	Sparse body hair	HP:0040281	ORPHA:59303
9076	CLDN1	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:59303
9076	CLDN1	HP:0001036	Parakeratosis	-	OMIM:607626
9076	CLDN1	HP:0025092	Epidermal acanthosis	-	OMIM:607626
9076	CLDN1	HP:0003623	Neonatal onset	4/4	OMIM:607626
9076	CLDN1	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:59303
9076	CLDN1	HP:0000677	Oligodontia	HP:0040283	ORPHA:59303
9076	CLDN1	HP:0000677	Oligodontia	2/3	OMIM:607626
9076	CLDN1	HP:0000653	Sparse eyelashes	HP:0040281	ORPHA:59303
9076	CLDN1	HP:0000653	Sparse eyelashes	1/2	OMIM:607626
9076	CLDN1	HP:0000668	Hypodontia	HP:0040283	ORPHA:59303
9076	CLDN1	HP:0000668	Hypodontia	2/3	OMIM:607626
9076	CLDN1	HP:0004552	Scarring alopecia of scalp	HP:0040281	ORPHA:59303
9076	CLDN1	HP:0045075	Sparse eyebrow	2/2	OMIM:607626
9076	CLDN1	HP:0000989	Pruritus	4/4	OMIM:607626
9076	CLDN1	HP:0000958	Dry skin	-	OMIM:607626
9076	CLDN1	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:59303
9076	CLDN1	HP:0000952	Jaundice	HP:0040281	ORPHA:59303
9076	CLDN1	HP:0000952	Jaundice	4/4	OMIM:607626
9076	CLDN1	HP:0040162	Orthokeratosis	-	OMIM:607626
9076	CLDN1	HP:0008070	Sparse hair	-	OMIM:607626
9076	CLDN1	HP:0008064	Ichthyosis	HP:0040281	ORPHA:59303
9076	CLDN1	HP:0008064	Ichthyosis	4/4	OMIM:607626
9076	CLDN1	HP:0001596	Alopecia	4/4	OMIM:607626
9076	CLDN1	HP:0005248	Intrahepatic biliary atresia	1/3	OMIM:607626
9076	CLDN1	HP:0001744	Splenomegaly	HP:0040281	ORPHA:59303
9076	CLDN1	HP:0001744	Splenomegaly	2/4	OMIM:607626
9080	CLDN9	HP:0002403	Positive Romberg sign	0/3	OMIM:619093
9080	CLDN9	HP:0001263	Global developmental delay	0/3	OMIM:619093
9080	CLDN9	HP:0000007	Autosomal recessive inheritance	-	OMIM:619093
9080	CLDN9	HP:0003621	Juvenile onset	3/3	OMIM:619093
9080	CLDN9	HP:0000407	Sensorineural hearing impairment	3/3	OMIM:619093
9081	PRY	HP:0000027	Azoospermia	-	OMIM:415000
9081	PRY	HP:0001450	Y-linked inheritance	-	OMIM:415000
9081	PRY	HP:0011462	Young adult onset	-	OMIM:415000
9081	PRY	HP:0003251	Male infertility	-	OMIM:415000
9082	XKRY	HP:0000027	Azoospermia	-	OMIM:415000
9082	XKRY	HP:0001450	Y-linked inheritance	-	OMIM:415000
9082	XKRY	HP:0011462	Young adult onset	-	OMIM:415000
9082	XKRY	HP:0003251	Male infertility	-	OMIM:415000
9083	BPY2	HP:0000027	Azoospermia	-	OMIM:415000
9083	BPY2	HP:0001450	Y-linked inheritance	-	OMIM:415000
9083	BPY2	HP:0011462	Young adult onset	-	OMIM:415000
9083	BPY2	HP:0003251	Male infertility	-	OMIM:415000
9084	VCY	HP:0000027	Azoospermia	-	OMIM:415000
9084	VCY	HP:0001450	Y-linked inheritance	-	OMIM:415000
9084	VCY	HP:0011462	Young adult onset	-	OMIM:415000
9084	VCY	HP:0003251	Male infertility	-	OMIM:415000
9085	CDY1	HP:0000027	Azoospermia	-	OMIM:415000
9085	CDY1	HP:0001450	Y-linked inheritance	-	OMIM:415000
9085	CDY1	HP:0011462	Young adult onset	-	OMIM:415000
9085	CDY1	HP:0003251	Male infertility	-	OMIM:415000
9091	PIGQ	HP:0009909	Uplifted earlobe	1/1	OMIM:618548
9091	PIGQ	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:1934
9091	PIGQ	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0002421	Poor head control	1/1	OMIM:618548
9091	PIGQ	HP:0002421	Poor head control	HP:0040282	ORPHA:1934
9091	PIGQ	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0001254	Lethargy	HP:0040282	ORPHA:1934
9091	PIGQ	HP:0001250	Seizure	HP:0040280	ORPHA:1934
9091	PIGQ	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1934
9091	PIGQ	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1934
9091	PIGQ	HP:0001257	Spasticity	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:1934
9091	PIGQ	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0000076	Vesicoureteral reflux	1/1	OMIM:618548
9091	PIGQ	HP:0000070	Ureterocele	HP:0040284	ORPHA:1934
9091	PIGQ	HP:0000054	Micropenis	HP:0040284	ORPHA:1934
9091	PIGQ	HP:0000023	Inguinal hernia	1/1	OMIM:618548
9091	PIGQ	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1934
9091	PIGQ	HP:0001357	Plagiocephaly	1/1	OMIM:618548
9091	PIGQ	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:618548
9091	PIGQ	HP:0031165	Multifocal seizures	1/1	OMIM:618548
9091	PIGQ	HP:0001332	Dystonia	HP:0040284	ORPHA:1934
9091	PIGQ	HP:0000007	Autosomal recessive inheritance	-	OMIM:618548
9091	PIGQ	HP:0001337	Tremor	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0001336	Myoclonus	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0001302	Pachygyria	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0002650	Scoliosis	1/1	OMIM:618548
9091	PIGQ	HP:0000175	Cleft palate	HP:0040284	ORPHA:1934
9091	PIGQ	HP:0008947	Floppy infant	1/1	OMIM:618548
9091	PIGQ	HP:0008947	Floppy infant	HP:0040282	ORPHA:1934
9091	PIGQ	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:1934
9091	PIGQ	HP:0002714	Downturned corners of mouth	1/1	OMIM:618548
9091	PIGQ	HP:0002033	Poor suck	HP:0040282	ORPHA:1934
9091	PIGQ	HP:0002015	Dysphagia	HP:0040282	ORPHA:1934
9091	PIGQ	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:1934
9091	PIGQ	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0002119	Ventriculomegaly	1/1	OMIM:618548
9091	PIGQ	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0010544	Vertical nystagmus	1/1	OMIM:618548
9091	PIGQ	HP:0100704	Cerebral visual impairment	1/1	OMIM:618548
9091	PIGQ	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1934
9091	PIGQ	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:1934
9091	PIGQ	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1934
9091	PIGQ	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:1934
9091	PIGQ	HP:0002376	Developmental regression	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1934
9091	PIGQ	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0010819	Atonic seizure	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0009023	Abdominal wall muscle weakness	1/1	OMIM:618548
9091	PIGQ	HP:0000803	Renal cortical cysts	1/1	OMIM:618548
9091	PIGQ	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0000767	Pectus excavatum	1/1	OMIM:618548
9091	PIGQ	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0010174	Broad phalanx of the toes	HP:0040284	ORPHA:1934
9091	PIGQ	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:618548
9091	PIGQ	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1934
9091	PIGQ	HP:0030822	Hooded upper eyelid	1/1	OMIM:618548
9091	PIGQ	HP:0000977	Soft skin	1/1	OMIM:618548
9091	PIGQ	HP:0009381	Short finger	HP:0040284	ORPHA:1934
9091	PIGQ	HP:0000280	Coarse facial features	1/1	OMIM:618548
9091	PIGQ	HP:0000293	Full cheeks	1/1	OMIM:618548
9091	PIGQ	HP:0000260	Wide anterior fontanel	1/1	OMIM:618548
9091	PIGQ	HP:0000252	Microcephaly	HP:0040284	ORPHA:1934
9091	PIGQ	HP:0000219	Thin upper lip vermilion	1/1	OMIM:618548
9091	PIGQ	HP:0001561	Polyhydramnios	1/1	OMIM:618548
9091	PIGQ	HP:0001540	Diastasis recti	1/1	OMIM:618548
9091	PIGQ	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1934
9091	PIGQ	HP:0001508	Failure to thrive	HP:0040284	ORPHA:1934
9091	PIGQ	HP:0001500	Broad finger	HP:0040284	ORPHA:1934
9091	PIGQ	HP:0000340	Sloping forehead	HP:0040284	ORPHA:1934
9091	PIGQ	HP:0000343	Long philtrum	1/1	OMIM:618548
9091	PIGQ	HP:0000347	Micrognathia	1/1	OMIM:618548
9091	PIGQ	HP:0032794	Myoclonic seizure	1/1	OMIM:618548
9091	PIGQ	HP:0000319	Smooth philtrum	1/1	OMIM:618548
9091	PIGQ	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:1934
9091	PIGQ	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:1934
9091	PIGQ	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:1934
9091	PIGQ	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:1934
9091	PIGQ	HP:0000483	Astigmatism	1/1	OMIM:618548
9091	PIGQ	HP:0000486	Strabismus	HP:0040284	ORPHA:1934
9091	PIGQ	HP:0012469	Infantile spasms	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0000463	Anteverted nares	1/1	OMIM:618548
9091	PIGQ	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1934
9091	PIGQ	HP:0012448	Delayed myelination	HP:0040283	ORPHA:1934
9091	PIGQ	HP:0000455	Broad nasal tip	1/1	OMIM:618548
9091	PIGQ	HP:0000522	Alacrima	1/1	OMIM:618548
9091	PIGQ	HP:0000506	Telecanthus	1/1	OMIM:618548
9091	PIGQ	HP:0000508	Ptosis	1/1	OMIM:618548
9091	PIGQ	HP:0012554	Absent thumbnail	HP:0040284	ORPHA:1934
9091	PIGQ	HP:0001869	Deep plantar creases	1/1	OMIM:618548
9094	UNC119	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
9094	UNC119	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
9094	UNC119	HP:0032275	Recurrent shingles	1/3	OMIM:615518
9094	UNC119	HP:0032218	Decreased proportion of CD4-positive T cells	3/3	OMIM:615518
9094	UNC119	HP:0007401	Macular atrophy	1/2	OMIM:620342
9094	UNC119	HP:0010976	Decreased total B cell count	3/3	OMIM:615518
9094	UNC119	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
9094	UNC119	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
9094	UNC119	HP:0000006	Autosomal dominant inheritance	-	OMIM:620342
9094	UNC119	HP:0000006	Autosomal dominant inheritance	-	OMIM:615518
9094	UNC119	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
9094	UNC119	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
9094	UNC119	HP:0007663	Reduced visual acuity	1/2	OMIM:620342
9094	UNC119	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
9094	UNC119	HP:0002788	Recurrent upper respiratory tract infections	2/3	OMIM:615518
9094	UNC119	HP:0002721	Immunodeficiency	-	OMIM:615518
9094	UNC119	HP:0100582	Nasal polyposis	1/3	OMIM:615518
9094	UNC119	HP:0002110	Bronchiectasis	1/3	OMIM:615518
9094	UNC119	HP:0033222	Inverted CD4:CD8 ratio	2/3	OMIM:615518
9094	UNC119	HP:0003596	Middle age onset	2/2	OMIM:620342
9094	UNC119	HP:0011945	Bronchiolitis obliterans organizing pneumonia	-	OMIM:615518
9094	UNC119	HP:0003621	Juvenile onset	8/19	OMIM:180100
9094	UNC119	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
9094	UNC119	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
9094	UNC119	HP:0000613	Photophobia	2/3	OMIM:620342
9094	UNC119	HP:0000608	Macular degeneration	1/1	OMIM:620342
9094	UNC119	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
9094	UNC119	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
9094	UNC119	HP:0030499	Macular drusen	1/1	OMIM:620342
9094	UNC119	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
9094	UNC119	HP:0000662	Nyctalopia	2/3	OMIM:620342
9094	UNC119	HP:0000662	Nyctalopia	26/28	OMIM:180100
9094	UNC119	HP:0011463	Childhood onset	3/19	OMIM:180100
9094	UNC119	HP:0011463	Childhood onset	1/1	OMIM:620342
9094	UNC119	HP:0011462	Young adult onset	8/19	OMIM:180100
9094	UNC119	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
9094	UNC119	HP:0007761	Pericentral scotoma	1/2	OMIM:620342
9094	UNC119	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
9094	UNC119	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
9094	UNC119	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
9094	UNC119	HP:0007843	Attenuation of retinal blood vessels	1/1	OMIM:620342
9094	UNC119	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
9094	UNC119	HP:0006532	Recurrent pneumonia	3/3	OMIM:615518
9094	UNC119	HP:0000403	Recurrent otitis media	1/3	OMIM:615518
9094	UNC119	HP:0011108	Recurrent sinusitis	2/3	OMIM:615518
9094	UNC119	HP:0005403	Decreased total T cell count	3/3	OMIM:615518
9094	UNC119	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
9094	UNC119	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
9094	UNC119	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
9094	UNC119	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
9094	UNC119	HP:0000580	Pigmentary retinopathy	1/1	OMIM:620342
9094	UNC119	HP:0000575	Scotoma	5/18	OMIM:180100
9094	UNC119	HP:0000575	Scotoma	1/1	OMIM:620342
9094	UNC119	HP:0001888	Decreased total lymphocyte count	3/3	OMIM:615518
9094	UNC119	HP:0000551	Color vision defect	1/2	OMIM:620342
9094	UNC119	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
9094	UNC119	HP:0000548	Cone/cone-rod dystrophy	2/3	OMIM:620342
9094	UNC119	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
9094	UNC119	HP:0000543	Optic disc pallor	1/1	OMIM:180100
9094	UNC119	HP:0000545	Myopia	-	OMIM:180100
9094	UNC119	HP:0000545	Myopia	1/2	OMIM:620342
9095	TBX19	HP:0001250	Seizure	-	OMIM:201400
9095	TBX19	HP:0001396	Cholestasis	-	OMIM:201400
9095	TBX19	HP:0000007	Autosomal recessive inheritance	-	OMIM:201400
9095	TBX19	HP:0002615	Hypotension	HP:0040281	ORPHA:199296
9095	TBX19	HP:0012115	Hepatitis	HP:0040283	ORPHA:199296
9095	TBX19	HP:0011748	Adrenocorticotropic hormone deficiency	-	OMIM:201400
9095	TBX19	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	HP:0040280	ORPHA:199296
9095	TBX19	HP:0008163	Decreased circulating cortisol level	HP:0040280	ORPHA:199296
9095	TBX19	HP:0008163	Decreased circulating cortisol level	-	OMIM:201400
9095	TBX19	HP:0002153	Hyperkalemia	-	ORPHA:199296
9095	TBX19	HP:0002173	Hypoglycemic seizures	HP:0040282	ORPHA:199296
9095	TBX19	HP:0003593	Infantile onset	-	OMIM:201400
9095	TBX19	HP:0001998	Neonatal hypoglycemia	HP:0040280	ORPHA:199296
9095	TBX19	HP:0003162	Fasting hypoglycemia	-	OMIM:201400
9095	TBX19	HP:0000835	Adrenal hypoplasia	HP:0040281	ORPHA:199296
9095	TBX19	HP:0000835	Adrenal hypoplasia	-	OMIM:201400
9095	TBX19	HP:0000952	Jaundice	-	OMIM:201400
9095	TBX19	HP:0012378	Fatigue	HP:0040281	ORPHA:199296
9095	TBX19	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:199296
9095	TBX19	HP:0002902	Hyponatremia	HP:0040281	ORPHA:199296
9096	TBX18	HP:0008676	Congenital megaureter	1/12	OMIM:143400
9096	TBX18	HP:0000089	Renal hypoplasia	1/12	OMIM:143400
9096	TBX18	HP:0000083	Renal insufficiency	2/12	OMIM:143400
9096	TBX18	HP:0000072	Hydroureter	1/12	OMIM:143400
9096	TBX18	HP:0000074	Ureteropelvic junction obstruction	5/12	OMIM:143400
9096	TBX18	HP:0000006	Autosomal dominant inheritance	-	OMIM:143400
9096	TBX18	HP:0000126	Hydronephrosis	2/12	OMIM:143400
9096	TBX18	HP:0000110	Renal dysplasia	1/12	OMIM:143400
9096	TBX18	HP:0003418	Back pain	1/12	OMIM:143400
9096	TBX18	HP:0004719	Hyperechogenic kidneys	1/12	OMIM:143400
9096	TBX18	HP:0003596	Middle age onset	2/12	OMIM:143400
9096	TBX18	HP:0003621	Juvenile onset	5/12	OMIM:143400
9096	TBX18	HP:0011463	Childhood onset	1/12	OMIM:143400
9096	TBX18	HP:0011462	Young adult onset	1/12	OMIM:143400
9096	TBX18	HP:0011461	Fetal onset	3/12	OMIM:143400
9096	TBX18	HP:0030157	Flank pain	3/12	OMIM:143400
9101	USP8	HP:0001123	Visual field defect	HP:0040284	ORPHA:96253
9101	USP8	HP:0010885	Avascular necrosis	HP:0040284	ORPHA:96253
9101	USP8	HP:0033505	Livedo reticularis	HP:0040283	ORPHA:96253
9101	USP8	HP:0001297	Stroke	HP:0040283	ORPHA:96253
9101	USP8	HP:0025269	Panic attack	HP:0040284	ORPHA:96253
9101	USP8	HP:0001249	Intellectual disability	HP:0040283	ORPHA:401795
9101	USP8	HP:0001258	Spastic paraplegia	HP:0040281	ORPHA:401795
9101	USP8	HP:0100852	Abnormal fear-induced behavior	-	OMIM:219090
9101	USP8	HP:0002509	Limb hypertonia	HP:0040282	ORPHA:401795
9101	USP8	HP:0002500	Abnormal cerebral white matter morphology	-	ORPHA:401795
9101	USP8	HP:0025383	Dorsocervical fat pad	HP:0040282	ORPHA:96253
9101	USP8	HP:0012030	Increased urinary cortisol level	HP:0040281	ORPHA:96253
9101	USP8	HP:0001345	Psychotic mentation	-	OMIM:219090
9101	USP8	HP:0002690	Large sella turcica	HP:0040283	ORPHA:96253
9101	USP8	HP:0001324	Muscle weakness	HP:0040282	ORPHA:96253
9101	USP8	HP:0000007	Autosomal recessive inheritance	-	OMIM:219090
9101	USP8	HP:0000006	Autosomal dominant inheritance	-	OMIM:219090
9101	USP8	HP:0001317	Abnormal cerebellum morphology	-	ORPHA:401795
9101	USP8	HP:0000141	Amenorrhea	HP:0040282	ORPHA:96253
9101	USP8	HP:0031284	Flushing	HP:0040283	ORPHA:96253
9101	USP8	HP:0500011	Moon facies	HP:0040282	ORPHA:96253
9101	USP8	HP:0002721	Immunodeficiency	HP:0040282	ORPHA:96253
9101	USP8	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:96253
9101	USP8	HP:0002064	Spastic gait	HP:0040282	ORPHA:401795
9101	USP8	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:401795
9101	USP8	HP:0040270	Impaired glucose tolerance	HP:0040282	ORPHA:96253
9101	USP8	HP:0040270	Impaired glucose tolerance	-	OMIM:219090
9101	USP8	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0040281	ORPHA:96253
9101	USP8	HP:0002169	Clonus	HP:0040282	ORPHA:401795
9101	USP8	HP:0008221	Adrenal hyperplasia	HP:0040282	ORPHA:96253
9101	USP8	HP:0008291	Pituitary corticotropic cell adenoma	HP:0040281	ORPHA:96253
9101	USP8	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:96253
9101	USP8	HP:0011999	Paranoia	HP:0040284	ORPHA:96253
9101	USP8	HP:0001058	Poor wound healing	HP:0040282	ORPHA:96253
9101	USP8	HP:0001058	Poor wound healing	-	OMIM:219090
9101	USP8	HP:0001050	Plethora	HP:0040282	ORPHA:96253
9101	USP8	HP:0025017	Capillary fragility	HP:0040282	ORPHA:96253
9101	USP8	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:401795
9101	USP8	HP:0001065	Striae distensae	HP:0040282	ORPHA:96253
9101	USP8	HP:0001065	Striae distensae	-	OMIM:219090
9101	USP8	HP:0001061	Acne	HP:0040282	ORPHA:96253
9101	USP8	HP:0001041	Facial erythema	-	OMIM:219090
9101	USP8	HP:0001007	Hirsutism	HP:0040282	ORPHA:96253
9101	USP8	HP:0001007	Hirsutism	-	OMIM:219090
9101	USP8	HP:0002354	Memory impairment	HP:0040283	ORPHA:96253
9101	USP8	HP:0002315	Headache	HP:0040283	ORPHA:96253
9101	USP8	HP:0200042	Skin ulcer	HP:0040283	ORPHA:96253
9101	USP8	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:96253
9101	USP8	HP:0010741	Pedal edema	HP:0040284	ORPHA:96253
9101	USP8	HP:0031845	Abnormal libido	HP:0040283	ORPHA:96253
9101	USP8	HP:0031891	Decreased total eosinophil count	HP:0040282	ORPHA:96253
9101	USP8	HP:0000639	Nystagmus	HP:0040282	ORPHA:401795
9101	USP8	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:96253
9101	USP8	HP:0001948	Alkalosis	-	OMIM:219090
9101	USP8	HP:0001956	Truncal obesity	HP:0040282	ORPHA:96253
9101	USP8	HP:0001952	Glucose intolerance	-	OMIM:219090
9101	USP8	HP:0011370	Recurrent cutaneous fungal infections	HP:0040283	ORPHA:96253
9101	USP8	HP:0004324	Increased body weight	HP:0040282	ORPHA:96253
9101	USP8	HP:0012743	Abdominal obesity	HP:0040282	ORPHA:96253
9101	USP8	HP:0012743	Abdominal obesity	-	OMIM:219090
9101	USP8	HP:0000716	Depression	HP:0040283	ORPHA:96253
9101	USP8	HP:0000712	Emotional lability	HP:0040282	ORPHA:96253
9101	USP8	HP:0000712	Emotional lability	-	OMIM:219090
9101	USP8	HP:0000726	Dementia	HP:0040284	ORPHA:96253
9101	USP8	HP:0000725	Psychotic episodes	HP:0040283	ORPHA:96253
9101	USP8	HP:0000709	Psychosis	HP:0040284	ORPHA:96253
9101	USP8	HP:0000708	Atypical behavior	HP:0040282	ORPHA:96253
9101	USP8	HP:0000787	Nephrolithiasis	-	OMIM:219090
9101	USP8	HP:0003118	Increased circulating cortisol level	HP:0040281	ORPHA:96253
9101	USP8	HP:0003154	Increased circulating ACTH level	HP:0040282	ORPHA:96253
9101	USP8	HP:0003154	Increased circulating ACTH level	-	OMIM:219090
9101	USP8	HP:0000876	Oligomenorrhea	HP:0040283	ORPHA:96253
9101	USP8	HP:0000876	Oligomenorrhea	-	OMIM:219090
9101	USP8	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:96253
9101	USP8	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:96253
9101	USP8	HP:0000822	Hypertension	HP:0040282	ORPHA:96253
9101	USP8	HP:0000822	Hypertension	-	OMIM:219090
9101	USP8	HP:0010284	Intra-oral hyperpigmentation	HP:0040282	ORPHA:96253
9101	USP8	HP:0003202	Skeletal muscle atrophy	-	OMIM:219090
9101	USP8	HP:0004586	Biconcave vertebral bodies	-	OMIM:219090
9101	USP8	HP:0000979	Purpura	HP:0040283	ORPHA:96253
9101	USP8	HP:0000979	Purpura	-	OMIM:219090
9101	USP8	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:96253
9101	USP8	HP:0000978	Bruising susceptibility	-	OMIM:219090
9101	USP8	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:96253
9101	USP8	HP:0000969	Edema	-	OMIM:219090
9101	USP8	HP:0000963	Thin skin	HP:0040282	ORPHA:96253
9101	USP8	HP:0000963	Thin skin	-	OMIM:219090
9101	USP8	HP:0000939	Osteoporosis	HP:0040282	ORPHA:96253
9101	USP8	HP:0000939	Osteoporosis	-	OMIM:219090
9101	USP8	HP:0002808	Kyphosis	-	OMIM:219090
9101	USP8	HP:0002893	Pituitary adenoma	-	OMIM:219090
9101	USP8	HP:0031364	Ecchymosis	HP:0040283	ORPHA:96253
9101	USP8	HP:0031364	Ecchymosis	-	OMIM:219090
9101	USP8	HP:0001513	Obesity	-	OMIM:219090
9101	USP8	HP:0007807	Optic nerve compression	HP:0040284	ORPHA:96253
9101	USP8	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040282	ORPHA:96253
9101	USP8	HP:0002900	Hypokalemia	-	OMIM:219090
9101	USP8	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:96253
9101	USP8	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:96253
9101	USP8	HP:0002953	Vertebral compression fracture	HP:0040283	ORPHA:96253
9101	USP8	HP:0002953	Vertebral compression fracture	-	OMIM:219090
9101	USP8	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:96253
9101	USP8	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:401795
9101	USP8	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:96253
9103	FCGR2C	HP:0025379	Anti-thyroid peroxidase antibody positivity	HP:0040282	ORPHA:3002
9103	FCGR2C	HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	HP:0040282	ORPHA:3002
9103	FCGR2C	HP:0001342	Cerebral hemorrhage	HP:0040284	ORPHA:3002
9103	FCGR2C	HP:0030908	Liver kidney microsome type 1 antibody positivity	HP:0040282	ORPHA:3002
9103	FCGR2C	HP:0011885	Hemorrhage of the eye	HP:0040284	ORPHA:3002
9103	FCGR2C	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:3002
9103	FCGR2C	HP:0032069	Anti-thyroglobulin antibody positivity	HP:0040282	ORPHA:3002
9103	FCGR2C	HP:0034063	Anti-islet antigen-2 antibody positivity	HP:0040282	ORPHA:3002
9103	FCGR2C	HP:0034062	Anti-insulin antibody positivity	HP:0040282	ORPHA:3002
9103	FCGR2C	HP:0034189	Anti-thyroid-stimulating hormone receptor antibody positivity	HP:0040282	ORPHA:3002
9103	FCGR2C	HP:0000790	Hematuria	HP:0040283	ORPHA:3002
9103	FCGR2C	HP:0004420	Arterial thrombosis	HP:0040282	ORPHA:3002
9103	FCGR2C	HP:0034263	Abnormal vaginal bleeding	HP:0040283	ORPHA:3002
9103	FCGR2C	HP:4000170	Anti-platelet antigen antibody positivity	HP:0040282	ORPHA:3002
9103	FCGR2C	HP:0000979	Purpura	HP:0040282	ORPHA:3002
9103	FCGR2C	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:3002
9103	FCGR2C	HP:0000967	Petechiae	HP:0040282	ORPHA:3002
9103	FCGR2C	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:3002
9103	FCGR2C	HP:0000421	Epistaxis	HP:0040283	ORPHA:3002
9103	FCGR2C	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:3002
9126	SMC3	HP:0001156	Brachydactyly	-	OMIM:610759
9126	SMC3	HP:0002465	Poor speech	-	OMIM:610759
9126	SMC3	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:199
9126	SMC3	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:199
9126	SMC3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9126	SMC3	HP:0001293	Cranial nerve compression	-	OMIM:131300
9126	SMC3	HP:0001276	Hypertonia	HP:0040281	ORPHA:199
9126	SMC3	HP:0001250	Seizure	3/12	OMIM:610759
9126	SMC3	HP:0001250	Seizure	HP:0040283	ORPHA:199
9126	SMC3	HP:0002580	Volvulus	HP:0040283	ORPHA:199
9126	SMC3	HP:0001252	Hypotonia	HP:0040283	ORPHA:199
9126	SMC3	HP:0001252	Hypotonia	2/7	OMIM:615777
9126	SMC3	HP:0001249	Intellectual disability	14/14	OMIM:610759
9126	SMC3	HP:0001249	Intellectual disability	HP:0040281	ORPHA:199
9126	SMC3	HP:0001249	Intellectual disability	5/7	OMIM:615777
9126	SMC3	HP:0001263	Global developmental delay	3/3	OMIM:610759
9126	SMC3	HP:0001263	Global developmental delay	-	OMIM:615777
9126	SMC3	HP:0002557	Hypoplastic nipples	HP:0040282	ORPHA:199
9126	SMC3	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:199
9126	SMC3	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:199
9126	SMC3	HP:0100874	Thick hair	-	OMIM:610759
9126	SMC3	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:199
9126	SMC3	HP:0002553	Highly arched eyebrow	17/18	OMIM:610759
9126	SMC3	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:199
9126	SMC3	HP:0002515	Waddling gait	54/102	OMIM:131300
9126	SMC3	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:199
9126	SMC3	HP:0000059	Hypoplastic labia majora	HP:0040282	ORPHA:199
9126	SMC3	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:199
9126	SMC3	HP:0000072	Hydroureter	1/16	OMIM:610759
9126	SMC3	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:199
9126	SMC3	HP:0001387	Joint stiffness	HP:0040282	ORPHA:199
9126	SMC3	HP:0001382	Joint hypermobility	-	OMIM:615777
9126	SMC3	HP:0000047	Hypospadias	HP:0040282	ORPHA:199
9126	SMC3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9126	SMC3	HP:0001357	Plagiocephaly	1/16	OMIM:610759
9126	SMC3	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:199
9126	SMC3	HP:0000028	Cryptorchidism	2/16	OMIM:610759
9126	SMC3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9126	SMC3	HP:0008872	Feeding difficulties in infancy	11/16	OMIM:610759
9126	SMC3	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199
9126	SMC3	HP:0008850	Severe postnatal growth retardation	HP:0040282	ORPHA:199
9126	SMC3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9126	SMC3	HP:0001324	Muscle weakness	40/96	OMIM:131300
9126	SMC3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9126	SMC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9126	SMC3	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:199
9126	SMC3	HP:0000006	Autosomal dominant inheritance	20/20	OMIM:610759
9126	SMC3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9126	SMC3	HP:0002650	Scoliosis	12/14	OMIM:131300
9126	SMC3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9126	SMC3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9126	SMC3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9126	SMC3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9126	SMC3	HP:0012165	Oligodactyly	HP:0040283	ORPHA:199
9126	SMC3	HP:0000175	Cleft palate	1/14	OMIM:610759
9126	SMC3	HP:0000175	Cleft palate	2/7	OMIM:615777
9126	SMC3	HP:0000175	Cleft palate	HP:0040283	ORPHA:199
9126	SMC3	HP:0001476	Delayed closure of the anterior fontanelle	1/16	OMIM:610759
9126	SMC3	HP:0007665	Curly eyelashes	HP:0040281	ORPHA:199
9126	SMC3	HP:0007665	Curly eyelashes	2/2	OMIM:610759
9126	SMC3	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:199
9126	SMC3	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:199
9126	SMC3	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:199
9126	SMC3	HP:0002714	Downturned corners of mouth	10/18	OMIM:610759
9126	SMC3	HP:0002714	Downturned corners of mouth	HP:0040281	ORPHA:199
9126	SMC3	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:199
9126	SMC3	HP:0002020	Gastroesophageal reflux	11/16	OMIM:610759
9126	SMC3	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:199
9126	SMC3	HP:0004691	2-3 toe syndactyly	2/2	OMIM:610759
9126	SMC3	HP:0002007	Frontal bossing	1/16	OMIM:610759
9126	SMC3	HP:0100543	Cognitive impairment	-	OMIM:610759
9126	SMC3	HP:0003388	Easy fatigability	36/76	OMIM:131300
9126	SMC3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9126	SMC3	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:199
9126	SMC3	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:199
9126	SMC3	HP:0009623	Proximal placement of thumb	HP:0040281	ORPHA:199
9126	SMC3	HP:0009623	Proximal placement of thumb	1/1	OMIM:610759
9126	SMC3	HP:0002194	Delayed gross motor development	1/3	OMIM:610759
9126	SMC3	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:199
9126	SMC3	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:199
9126	SMC3	HP:0003593	Infantile onset	1/2	OMIM:610759
9126	SMC3	HP:0002230	Generalized hirsutism	HP:0040281	ORPHA:199
9126	SMC3	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:199
9126	SMC3	HP:0011968	Feeding difficulties	1/1	OMIM:610759
9126	SMC3	HP:0003510	Severe short stature	7/7	OMIM:615777
9126	SMC3	HP:0001052	Nevus flammeus	1/12	OMIM:610759
9126	SMC3	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:199
9126	SMC3	HP:0001007	Hirsutism	16/18	OMIM:610759
9126	SMC3	HP:0002315	Headache	-	OMIM:131300
9126	SMC3	HP:0004976	Knee dislocation	6/7	OMIM:615777
9126	SMC3	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:199
9126	SMC3	HP:0009803	Short phalanx of finger	-	OMIM:615777
9126	SMC3	HP:0200055	Small hand	11/14	OMIM:610759
9126	SMC3	HP:0200055	Small hand	HP:0040281	ORPHA:199
9126	SMC3	HP:0010750	Dermatochalasis	1/3	OMIM:610759
9126	SMC3	HP:0009763	Limb pain	63/92	OMIM:131300
9126	SMC3	HP:0003621	Juvenile onset	-	OMIM:131300
9126	SMC3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9126	SMC3	HP:0004209	Clinodactyly of the 5th finger	11/17	OMIM:610759
9126	SMC3	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:199
9126	SMC3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9126	SMC3	HP:0000639	Nystagmus	HP:0040283	ORPHA:199
9126	SMC3	HP:6001056	Out-toeing	-	OMIM:131300
9126	SMC3	HP:0000651	Diplopia	-	OMIM:131300
9126	SMC3	HP:0001956	Truncal obesity	HP:0040283	ORPHA:199
9126	SMC3	HP:0001956	Truncal obesity	2/7	OMIM:615777
9126	SMC3	HP:0001903	Anemia	HP:0040283	OMIM:131300
9126	SMC3	HP:0010049	Short metacarpal	-	OMIM:615777
9126	SMC3	HP:0010047	Short 5th metacarpal	1/2	OMIM:610759
9126	SMC3	HP:0010044	Short 4th metacarpal	1/1	OMIM:610759
9126	SMC3	HP:0010034	Short 1st metacarpal	HP:0040281	ORPHA:199
9126	SMC3	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:199
9126	SMC3	HP:0000678	Dental crowding	-	OMIM:615777
9126	SMC3	HP:0000691	Microdontia	2/9	OMIM:610759
9126	SMC3	HP:0000687	Widely spaced teeth	1/1	OMIM:610759
9126	SMC3	HP:0000687	Widely spaced teeth	HP:0040281	ORPHA:199
9126	SMC3	HP:0000670	Carious teeth	-	OMIM:131300
9126	SMC3	HP:0011304	Broad thumb	2/7	OMIM:615777
9126	SMC3	HP:0000668	Hypodontia	-	OMIM:615777
9126	SMC3	HP:0000667	Phthisis bulbi	HP:0040282	ORPHA:199
9126	SMC3	HP:0000664	Synophrys	14/18	OMIM:610759
9126	SMC3	HP:0000664	Synophrys	-	OMIM:615777
9126	SMC3	HP:0000664	Synophrys	HP:0040281	ORPHA:199
9126	SMC3	HP:0004322	Short stature	1/1	OMIM:610759
9126	SMC3	HP:0004322	Short stature	HP:0040281	ORPHA:199
9126	SMC3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:199
9126	SMC3	HP:0004396	Poor appetite	-	OMIM:131300
9126	SMC3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9126	SMC3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9126	SMC3	HP:0003042	Elbow dislocation	HP:0040282	ORPHA:199
9126	SMC3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9126	SMC3	HP:0003026	Short long bone	7/7	OMIM:615777
9126	SMC3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9126	SMC3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9126	SMC3	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:199
9126	SMC3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9126	SMC3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9126	SMC3	HP:0000739	Anxiety	HP:0040282	ORPHA:199
9126	SMC3	HP:0000750	Delayed speech and language development	-	OMIM:615777
9126	SMC3	HP:0000717	Autism	HP:0040283	ORPHA:199
9126	SMC3	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:199
9126	SMC3	HP:0011463	Childhood onset	1/2	OMIM:610759
9126	SMC3	HP:0011461	Fetal onset	7/7	OMIM:615777
9126	SMC3	HP:0011451	Primary microcephaly	5/16	OMIM:610759
9126	SMC3	HP:0000774	Narrow chest	2/7	OMIM:615777
9126	SMC3	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:199
9126	SMC3	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:199
9126	SMC3	HP:0003196	Short nose	HP:0040281	ORPHA:199
9126	SMC3	HP:0000926	Platyspondyly	1/7	OMIM:615777
9126	SMC3	HP:0003180	Flat acetabular roof	-	OMIM:615777
9126	SMC3	HP:0004482	Relative macrocephaly	-	OMIM:615777
9126	SMC3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9126	SMC3	HP:0000823	Delayed puberty	-	OMIM:131300
9126	SMC3	HP:0000823	Delayed puberty	HP:0040283	ORPHA:199
9126	SMC3	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:199
9126	SMC3	HP:0000894	Short clavicles	-	OMIM:615777
9126	SMC3	HP:0009237	Short 5th finger	11/15	OMIM:610759
9126	SMC3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9126	SMC3	HP:0030820	Hooded eyelid	2/13	OMIM:610759
9126	SMC3	HP:0010300	Abnormally low-pitched voice	HP:0040281	ORPHA:199
9126	SMC3	HP:0000954	Single transverse palmar crease	5/14	OMIM:610759
9126	SMC3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9126	SMC3	HP:0000965	Cutis marmorata	HP:0040282	ORPHA:199
9126	SMC3	HP:0000965	Cutis marmorata	6/16	OMIM:610759
9126	SMC3	HP:0000286	Epicanthus	2/3	OMIM:610759
9126	SMC3	HP:0000286	Epicanthus	1/7	OMIM:615777
9126	SMC3	HP:0000280	Coarse facial features	2/7	OMIM:615777
9126	SMC3	HP:0000278	Retrognathia	2/3	OMIM:610759
9126	SMC3	HP:0000294	Low anterior hairline	9/17	OMIM:610759
9126	SMC3	HP:0000294	Low anterior hairline	HP:0040281	ORPHA:199
9126	SMC3	HP:0002827	Hip dislocation	3/7	OMIM:615777
9126	SMC3	HP:0002827	Hip dislocation	HP:0040283	ORPHA:199
9126	SMC3	HP:0000252	Microcephaly	1/3	OMIM:610759
9126	SMC3	HP:0000252	Microcephaly	HP:0040281	ORPHA:199
9126	SMC3	HP:0000252	Microcephaly	-	OMIM:615777
9126	SMC3	HP:0000248	Brachycephaly	11/15	OMIM:610759
9126	SMC3	HP:0000248	Brachycephaly	HP:0040281	ORPHA:199
9126	SMC3	HP:0012210	Abnormal renal morphology	0/1	OMIM:610759
9126	SMC3	HP:0000219	Thin upper lip vermilion	13/16	OMIM:610759
9126	SMC3	HP:0000218	High palate	HP:0040281	ORPHA:199
9126	SMC3	HP:0000218	High palate	7/14	OMIM:610759
9126	SMC3	HP:0000233	Thin vermilion border	1/1	OMIM:610759
9126	SMC3	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:199
9126	SMC3	HP:0001557	Prenatal movement abnormality	HP:0040283	ORPHA:199
9126	SMC3	HP:0002857	Genu valgum	-	OMIM:131300
9126	SMC3	HP:0001533	Slender build	-	OMIM:131300
9126	SMC3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:199
9126	SMC3	HP:0001508	Failure to thrive	1/3	OMIM:610759
9126	SMC3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9126	SMC3	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:199
9126	SMC3	HP:0007807	Optic nerve compression	-	OMIM:131300
9126	SMC3	HP:0012368	Flat face	1/16	OMIM:610759
9126	SMC3	HP:0012368	Flat face	7/7	OMIM:615777
9126	SMC3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9126	SMC3	HP:0000365	Hearing impairment	7/13	OMIM:610759
9126	SMC3	HP:0000365	Hearing impairment	10/67	OMIM:131300
9126	SMC3	HP:0000358	Posteriorly rotated ears	3/16	OMIM:610759
9126	SMC3	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:199
9126	SMC3	HP:0000369	Low-set ears	1/3	OMIM:610759
9126	SMC3	HP:0000341	Narrow forehead	2/3	OMIM:610759
9126	SMC3	HP:0000343	Long philtrum	10/15	OMIM:610759
9126	SMC3	HP:0000343	Long philtrum	1/7	OMIM:615777
9126	SMC3	HP:0000343	Long philtrum	HP:0040281	ORPHA:199
9126	SMC3	HP:0011001	Increased bone mineral density	-	OMIM:131300
9126	SMC3	HP:0002996	Limited elbow movement	6/12	OMIM:610759
9126	SMC3	HP:0000347	Micrognathia	HP:0040281	ORPHA:199
9126	SMC3	HP:0000347	Micrognathia	6/15	OMIM:610759
9126	SMC3	HP:0002983	Micromelia	HP:0040281	ORPHA:199
9126	SMC3	HP:0000319	Smooth philtrum	10/15	OMIM:610759
9126	SMC3	HP:0001647	Bicuspid aortic valve	2/16	OMIM:610759
9126	SMC3	HP:0001643	Patent ductus arteriosus	1/16	OMIM:610759
9126	SMC3	HP:0000311	Round face	2/7	OMIM:615777
9126	SMC3	HP:0001642	Pulmonic stenosis	4/16	OMIM:610759
9126	SMC3	HP:0002974	Radioulnar synostosis	HP:0040282	ORPHA:199
9126	SMC3	HP:0000331	Short chin	1/3	OMIM:610759
9126	SMC3	HP:0000324	Facial asymmetry	1/16	OMIM:610759
9126	SMC3	HP:0001655	Patent foramen ovale	1/1	OMIM:610759
9126	SMC3	HP:0001629	Ventricular septal defect	2/16	OMIM:610759
9126	SMC3	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:199
9126	SMC3	HP:0001622	Premature birth	HP:0040282	ORPHA:199
9126	SMC3	HP:0002970	Genu varum	-	OMIM:615777
9126	SMC3	HP:0001631	Atrial septal defect	4/16	OMIM:610759
9126	SMC3	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:199
9126	SMC3	HP:0000303	Mandibular prognathia	-	OMIM:131300
9126	SMC3	HP:0000498	Blepharitis	HP:0040282	ORPHA:199
9126	SMC3	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:199
9126	SMC3	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:199
9126	SMC3	HP:0000400	Macrotia	HP:0040283	ORPHA:199
9126	SMC3	HP:0005280	Depressed nasal bridge	8/18	OMIM:610759
9126	SMC3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9126	SMC3	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:199
9126	SMC3	HP:0000486	Strabismus	HP:0040283	ORPHA:199
9126	SMC3	HP:0000482	Microcornea	HP:0040282	ORPHA:199
9126	SMC3	HP:0000463	Anteverted nares	9/17	OMIM:610759
9126	SMC3	HP:0000463	Anteverted nares	HP:0040281	ORPHA:199
9126	SMC3	HP:0000455	Broad nasal tip	1/3	OMIM:610759
9126	SMC3	HP:0000470	Short neck	7/16	OMIM:610759
9126	SMC3	HP:0000470	Short neck	1/7	OMIM:615777
9126	SMC3	HP:0000470	Short neck	HP:0040281	ORPHA:199
9126	SMC3	HP:0001770	Toe syndactyly	4/14	OMIM:610759
9126	SMC3	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:199
9126	SMC3	HP:0001773	Short foot	12/14	OMIM:610759
9126	SMC3	HP:0001773	Short foot	HP:0040281	ORPHA:199
9126	SMC3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9126	SMC3	HP:0001763	Pes planus	1/7	OMIM:615777
9126	SMC3	HP:0000453	Choanal atresia	HP:0040283	ORPHA:199
9126	SMC3	HP:0000414	Bulbous nose	12/14	OMIM:610759
9126	SMC3	HP:0000413	Atresia of the external auditory canal	HP:0040281	ORPHA:199
9126	SMC3	HP:0000426	Prominent nasal bridge	0/1	OMIM:610759
9126	SMC3	HP:0005484	Secondary microcephaly	12/16	OMIM:610759
9126	SMC3	HP:0000518	Cataract	HP:0040283	ORPHA:199
9126	SMC3	HP:0001840	Metatarsus adductus	-	OMIM:615777
9126	SMC3	HP:0000527	Long eyelashes	18/19	OMIM:610759
9126	SMC3	HP:0000527	Long eyelashes	HP:0040281	ORPHA:199
9126	SMC3	HP:0000520	Proptosis	2/4	OMIM:131300
9126	SMC3	HP:0000520	Proptosis	7/7	OMIM:615777
9126	SMC3	HP:0000508	Ptosis	HP:0040282	ORPHA:199
9126	SMC3	HP:0000508	Ptosis	6/18	OMIM:610759
9126	SMC3	HP:0000501	Glaucoma	HP:0040283	ORPHA:199
9126	SMC3	HP:0000579	Nasolacrimal duct obstruction	4/12	OMIM:610759
9126	SMC3	HP:0000592	Blue sclerae	2/7	OMIM:615777
9126	SMC3	HP:0011230	Laterally extended eyebrow	1/16	OMIM:610759
9126	SMC3	HP:0000574	Thick eyebrow	11/16	OMIM:610759
9126	SMC3	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:199
9126	SMC3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9126	SMC3	HP:0001883	Talipes	HP:0040283	ORPHA:199
9126	SMC3	HP:0012514	Lower limb pain	4/4	OMIM:131300
9126	SMC3	HP:0000545	Myopia	5/11	OMIM:610759
9126	SMC3	HP:0000545	Myopia	HP:0040282	ORPHA:199
9128	PRPF4	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
9128	PRPF4	HP:0001133	Constriction of peripheral visual field	4/5	OMIM:615922
9128	PRPF4	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
9128	PRPF4	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
9128	PRPF4	HP:0000006	Autosomal dominant inheritance	-	OMIM:615922
9128	PRPF4	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
9128	PRPF4	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
9128	PRPF4	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
9128	PRPF4	HP:0007663	Reduced visual acuity	5/5	OMIM:615922
9128	PRPF4	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
9128	PRPF4	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
9128	PRPF4	HP:0003621	Juvenile onset	8/19	OMIM:180100
9128	PRPF4	HP:0003621	Juvenile onset	1/4	OMIM:615922
9128	PRPF4	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
9128	PRPF4	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
9128	PRPF4	HP:0000618	Blindness	HP:0040281	ORPHA:791
9128	PRPF4	HP:0000613	Photophobia	HP:0040281	ORPHA:791
9128	PRPF4	HP:0000608	Macular degeneration	4/5	OMIM:615922
9128	PRPF4	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
9128	PRPF4	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
9128	PRPF4	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
9128	PRPF4	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
9128	PRPF4	HP:0000662	Nyctalopia	4/5	OMIM:615922
9128	PRPF4	HP:0000662	Nyctalopia	26/28	OMIM:180100
9128	PRPF4	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
9128	PRPF4	HP:0011463	Childhood onset	3/19	OMIM:180100
9128	PRPF4	HP:0011462	Young adult onset	8/19	OMIM:180100
9128	PRPF4	HP:0011462	Young adult onset	3/4	OMIM:615922
9128	PRPF4	HP:0030786	Photopsia	HP:0040283	ORPHA:791
9128	PRPF4	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
9128	PRPF4	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
9128	PRPF4	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
9128	PRPF4	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
9128	PRPF4	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
9128	PRPF4	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
9128	PRPF4	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
9128	PRPF4	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
9128	PRPF4	HP:0007843	Attenuation of retinal blood vessels	4/5	OMIM:615922
9128	PRPF4	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
9128	PRPF4	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
9128	PRPF4	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
9128	PRPF4	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
9128	PRPF4	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
9128	PRPF4	HP:0000510	Rod-cone dystrophy	5/5	OMIM:615922
9128	PRPF4	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
9128	PRPF4	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
9128	PRPF4	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
9128	PRPF4	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
9128	PRPF4	HP:0000575	Scotoma	5/18	OMIM:180100
9128	PRPF4	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
9128	PRPF4	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
9128	PRPF4	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
9128	PRPF4	HP:0000546	Retinal degeneration	5/5	OMIM:615922
9128	PRPF4	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
9128	PRPF4	HP:0000543	Optic disc pallor	4/5	OMIM:615922
9128	PRPF4	HP:0000543	Optic disc pallor	1/1	OMIM:180100
9128	PRPF4	HP:0000545	Myopia	-	OMIM:180100
9129	PRPF3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
9129	PRPF3	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
9129	PRPF3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
9129	PRPF3	HP:0000006	Autosomal dominant inheritance	-	OMIM:601414
9129	PRPF3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
9129	PRPF3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
9129	PRPF3	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
9129	PRPF3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
9129	PRPF3	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
9129	PRPF3	HP:0003621	Juvenile onset	8/19	OMIM:180100
9129	PRPF3	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
9129	PRPF3	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
9129	PRPF3	HP:0000618	Blindness	HP:0040281	ORPHA:791
9129	PRPF3	HP:0000613	Photophobia	HP:0040281	ORPHA:791
9129	PRPF3	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
9129	PRPF3	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
9129	PRPF3	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
9129	PRPF3	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
9129	PRPF3	HP:0000662	Nyctalopia	-	OMIM:601414
9129	PRPF3	HP:0000662	Nyctalopia	26/28	OMIM:180100
9129	PRPF3	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
9129	PRPF3	HP:0011463	Childhood onset	3/19	OMIM:180100
9129	PRPF3	HP:0011462	Young adult onset	8/19	OMIM:180100
9129	PRPF3	HP:0030786	Photopsia	HP:0040283	ORPHA:791
9129	PRPF3	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
9129	PRPF3	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
9129	PRPF3	HP:0008043	Retinal arteriolar constriction	-	OMIM:601414
9129	PRPF3	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
9129	PRPF3	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
9129	PRPF3	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
9129	PRPF3	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
9129	PRPF3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
9129	PRPF3	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
9129	PRPF3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
9129	PRPF3	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
9129	PRPF3	HP:0007987	Progressive visual field defects	-	OMIM:601414
9129	PRPF3	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
9129	PRPF3	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
9129	PRPF3	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
9129	PRPF3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
9129	PRPF3	HP:0000510	Rod-cone dystrophy	-	OMIM:601414
9129	PRPF3	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
9129	PRPF3	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
9129	PRPF3	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
9129	PRPF3	HP:0000575	Scotoma	-	OMIM:601414
9129	PRPF3	HP:0000575	Scotoma	5/18	OMIM:180100
9129	PRPF3	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
9129	PRPF3	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
9129	PRPF3	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
9129	PRPF3	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
9129	PRPF3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
9129	PRPF3	HP:0000545	Myopia	-	OMIM:180100
9130	FAM50A	HP:0001250	Seizure	-	OMIM:300261
9130	FAM50A	HP:0001249	Intellectual disability	-	OMIM:300261
9130	FAM50A	HP:0000175	Cleft palate	HP:0040283	OMIM:300261
9130	FAM50A	HP:0001419	X-linked recessive inheritance	-	OMIM:300261
9130	FAM50A	HP:0001417	X-linked inheritance	-	OMIM:300261
9130	FAM50A	HP:0011800	Midface retrusion	HP:0040283	OMIM:300261
9130	FAM50A	HP:0005922	Abnormal hand morphology	-	OMIM:300261
9130	FAM50A	HP:0200055	Small hand	-	OMIM:300261
9130	FAM50A	HP:0004322	Short stature	-	OMIM:300261
9130	FAM50A	HP:0000272	Malar flattening	HP:0040283	OMIM:300261
9130	FAM50A	HP:0000486	Strabismus	HP:0040283	OMIM:300261
9130	FAM50A	HP:0001773	Short foot	-	OMIM:300261
9130	FAM50A	HP:0000518	Cataract	HP:0040283	OMIM:300261
9130	FAM50A	HP:0000501	Glaucoma	HP:0040283	OMIM:300261
9130	FAM50A	HP:0011220	Prominent forehead	-	OMIM:300261
9131	AIFM1	HP:0001169	Broad palm	-	OMIM:300232
9131	AIFM1	HP:0001156	Brachydactyly	4/4	OMIM:300232
9131	AIFM1	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:238329
9131	AIFM1	HP:0002490	Increased CSF lactate	1/1	OMIM:300816
9131	AIFM1	HP:0002460	Distal muscle weakness	HP:0040281	ORPHA:101078
9131	AIFM1	HP:0002445	Tetraplegia	1/2	OMIM:300816
9131	AIFM1	HP:0007328	Impaired pain sensation	HP:0040282	ORPHA:101078
9131	AIFM1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9131	AIFM1	HP:0001293	Cranial nerve compression	-	OMIM:131300
9131	AIFM1	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:238329
9131	AIFM1	HP:0001271	Polyneuropathy	1/2	OMIM:300816
9131	AIFM1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:101078
9131	AIFM1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:83629
9131	AIFM1	HP:0001284	Areflexia	HP:0040281	ORPHA:238329
9131	AIFM1	HP:0001284	Areflexia	HP:0040281	ORPHA:101078
9131	AIFM1	HP:0001284	Areflexia	-	OMIM:300614
9131	AIFM1	HP:0001284	Areflexia	2/2	OMIM:300816
9131	AIFM1	HP:0001250	Seizure	1/2	OMIM:300816
9131	AIFM1	HP:0001250	Seizure	-	OMIM:300232
9131	AIFM1	HP:0001252	Hypotonia	2/2	OMIM:300816
9131	AIFM1	HP:0001252	Hypotonia	2/7	OMIM:615777
9131	AIFM1	HP:0001251	Ataxia	HP:0040283	ORPHA:101078
9131	AIFM1	HP:0001251	Ataxia	7/7	OMIM:300232
9131	AIFM1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:101078
9131	AIFM1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:83629
9131	AIFM1	HP:0001249	Intellectual disability	0/16	OMIM:300614
9131	AIFM1	HP:0001249	Intellectual disability	-	OMIM:310490
9131	AIFM1	HP:0001249	Intellectual disability	5/7	OMIM:615777
9131	AIFM1	HP:0001265	Hyporeflexia	-	OMIM:300816
9131	AIFM1	HP:0001263	Global developmental delay	2/2	OMIM:300816
9131	AIFM1	HP:0001263	Global developmental delay	-	OMIM:615777
9131	AIFM1	HP:0001258	Spastic paraplegia	HP:0040282	ORPHA:83629
9131	AIFM1	HP:0100864	Short femoral neck	-	OMIM:300232
9131	AIFM1	HP:0010994	Abnormal corpus striatum morphology	HP:0040281	ORPHA:238329
9131	AIFM1	HP:0006028	Metaphyseal cupping of metacarpals	-	OMIM:300232
9131	AIFM1	HP:0002515	Waddling gait	54/102	OMIM:131300
9131	AIFM1	HP:0001371	Flexion contracture	-	OMIM:300232
9131	AIFM1	HP:0001382	Joint hypermobility	-	OMIM:615777
9131	AIFM1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:83629
9131	AIFM1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9131	AIFM1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9131	AIFM1	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:238329
9131	AIFM1	HP:0008789	Cone-shaped capital femoral epiphysis	-	OMIM:300232
9131	AIFM1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9131	AIFM1	HP:0001324	Muscle weakness	2/2	OMIM:300816
9131	AIFM1	HP:0001324	Muscle weakness	40/96	OMIM:131300
9131	AIFM1	HP:0001324	Muscle weakness	-	OMIM:310490
9131	AIFM1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9131	AIFM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9131	AIFM1	HP:0001337	Tremor	HP:0040283	ORPHA:101078
9131	AIFM1	HP:0001337	Tremor	HP:0040282	ORPHA:83629
9131	AIFM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9131	AIFM1	HP:0001308	Tongue fasciculations	HP:0040282	ORPHA:238329
9131	AIFM1	HP:0001308	Tongue fasciculations	1/2	OMIM:300816
9131	AIFM1	HP:0002650	Scoliosis	HP:0040282	ORPHA:101078
9131	AIFM1	HP:0002650	Scoliosis	12/14	OMIM:131300
9131	AIFM1	HP:0002651	Spondyloepimetaphyseal dysplasia	-	OMIM:300232
9131	AIFM1	HP:0002645	Wormian bones	-	OMIM:300232
9131	AIFM1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9131	AIFM1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9131	AIFM1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9131	AIFM1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9131	AIFM1	HP:0000175	Cleft palate	2/7	OMIM:615777
9131	AIFM1	HP:0025435	Increased circulating lactate dehydrogenase concentration	2/2	OMIM:310490
9131	AIFM1	HP:0008944	Distal lower limb amyotrophy	-	OMIM:310490
9131	AIFM1	HP:0002751	Kyphoscoliosis	4/4	OMIM:300232
9131	AIFM1	HP:0002750	Delayed skeletal maturation	-	OMIM:300232
9131	AIFM1	HP:0001419	X-linked recessive inheritance	-	OMIM:300232
9131	AIFM1	HP:0001419	X-linked recessive inheritance	-	OMIM:310490
9131	AIFM1	HP:0001419	X-linked recessive inheritance	-	OMIM:300614
9131	AIFM1	HP:0001419	X-linked recessive inheritance	-	OMIM:300816
9131	AIFM1	HP:0002747	Respiratory insufficiency due to muscle weakness	1/2	OMIM:300816
9131	AIFM1	HP:0003311	Hypoplasia of the odontoid process	-	OMIM:300232
9131	AIFM1	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:238329
9131	AIFM1	HP:0011800	Midface retrusion	4/4	OMIM:300232
9131	AIFM1	HP:0011800	Midface retrusion	HP:0040283	ORPHA:83629
9131	AIFM1	HP:0100543	Cognitive impairment	HP:0040283	OMIM:310490
9131	AIFM1	HP:0002098	Respiratory distress	HP:0040282	ORPHA:238329
9131	AIFM1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:238329
9131	AIFM1	HP:0002062	Abnormal pyramidal tract morphology	HP:0040282	ORPHA:83629
9131	AIFM1	HP:0003390	Sensory axonal neuropathy	HP:0040281	ORPHA:238329
9131	AIFM1	HP:0003390	Sensory axonal neuropathy	-	OMIM:300614
9131	AIFM1	HP:0003390	Sensory axonal neuropathy	-	OMIM:310490
9131	AIFM1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:300232
9131	AIFM1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:83629
9131	AIFM1	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:83629
9131	AIFM1	HP:0003388	Easy fatigability	36/76	OMIM:131300
9131	AIFM1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9131	AIFM1	HP:0003487	Babinski sign	2/4	OMIM:300232
9131	AIFM1	HP:0003487	Babinski sign	HP:0040282	ORPHA:83629
9131	AIFM1	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:238329
9131	AIFM1	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:300816
9131	AIFM1	HP:0002134	Abnormal basal ganglia morphology	-	OMIM:300816
9131	AIFM1	HP:0002188	Delayed CNS myelination	6/6	OMIM:300232
9131	AIFM1	HP:0002197	Generalized-onset seizure	1/2	OMIM:300816
9131	AIFM1	HP:0034585	Cochlear nerve hypoplasia	7/7	OMIM:300614
9131	AIFM1	HP:0010585	Small epiphyses	-	OMIM:300232
9131	AIFM1	HP:0003593	Infantile onset	2/2	OMIM:300816
9131	AIFM1	HP:0002273	Tetraparesis	4/4	OMIM:300232
9131	AIFM1	HP:0100707	Abnormal astrocyte morphology	HP:0040282	ORPHA:83629
9131	AIFM1	HP:0003557	Increased variability in muscle fiber diameter	HP:0040281	ORPHA:238329
9131	AIFM1	HP:0003542	Increased circulating pyruvate concentration	HP:0040282	ORPHA:238329
9131	AIFM1	HP:0003542	Increased circulating pyruvate concentration	1/1	OMIM:300816
9131	AIFM1	HP:0008347	Decreased activity of mitochondrial complex IV	1/2	OMIM:300816
9131	AIFM1	HP:0007002	Motor axonal neuropathy	-	OMIM:310490
9131	AIFM1	HP:0003510	Severe short stature	7/7	OMIM:615777
9131	AIFM1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:101078
9131	AIFM1	HP:0002375	Hypokinesia	HP:0040282	ORPHA:238329
9131	AIFM1	HP:0002375	Hypokinesia	1/2	OMIM:300816
9131	AIFM1	HP:0002376	Developmental regression	HP:0040282	ORPHA:238329
9131	AIFM1	HP:0002376	Developmental regression	7/7	OMIM:300232
9131	AIFM1	HP:0002376	Developmental regression	2/2	OMIM:300816
9131	AIFM1	HP:0003676	Progressive	-	OMIM:300816
9131	AIFM1	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:83629
9131	AIFM1	HP:0003677	Slowly progressive	-	OMIM:300614
9131	AIFM1	HP:0002321	Vertigo	0/16	OMIM:300614
9131	AIFM1	HP:0002317	Unsteady gait	7/16	OMIM:300614
9131	AIFM1	HP:0002315	Headache	-	OMIM:131300
9131	AIFM1	HP:0004976	Knee dislocation	6/7	OMIM:615777
9131	AIFM1	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:238329
9131	AIFM1	HP:0009803	Short phalanx of finger	-	OMIM:615777
9131	AIFM1	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:101078
9131	AIFM1	HP:0009763	Limb pain	63/92	OMIM:131300
9131	AIFM1	HP:0003621	Juvenile onset	-	OMIM:131300
9131	AIFM1	HP:0007178	Motor polyneuropathy	1/2	OMIM:300816
9131	AIFM1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9131	AIFM1	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:238329
9131	AIFM1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9131	AIFM1	HP:0006887	Intellectual disability, progressive	5/5	OMIM:300232
9131	AIFM1	HP:0000639	Nystagmus	7/7	OMIM:300232
9131	AIFM1	HP:0001963	Abnormal speech discrimination	-	OMIM:300614
9131	AIFM1	HP:6001056	Out-toeing	-	OMIM:131300
9131	AIFM1	HP:0000651	Diplopia	-	OMIM:131300
9131	AIFM1	HP:0001956	Truncal obesity	2/7	OMIM:615777
9131	AIFM1	HP:0001903	Anemia	HP:0040283	OMIM:131300
9131	AIFM1	HP:0010049	Short metacarpal	-	OMIM:615777
9131	AIFM1	HP:0009053	Distal lower limb muscle weakness	-	OMIM:310490
9131	AIFM1	HP:0011343	Moderate global developmental delay	HP:0040281	ORPHA:238329
9131	AIFM1	HP:0009025	Increased connective tissue	HP:0040282	ORPHA:238329
9131	AIFM1	HP:0000678	Dental crowding	-	OMIM:615777
9131	AIFM1	HP:0000670	Carious teeth	-	OMIM:131300
9131	AIFM1	HP:0011304	Broad thumb	2/7	OMIM:615777
9131	AIFM1	HP:0000668	Hypodontia	-	OMIM:615777
9131	AIFM1	HP:0000664	Synophrys	-	OMIM:615777
9131	AIFM1	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:83629
9131	AIFM1	HP:0004322	Short stature	7/7	OMIM:300232
9131	AIFM1	HP:0004305	Involuntary movements	HP:0040282	ORPHA:238329
9131	AIFM1	HP:0004305	Involuntary movements	1/2	OMIM:300816
9131	AIFM1	HP:0003071	Flattened epiphysis	20/20	OMIM:300232
9131	AIFM1	HP:0004396	Poor appetite	-	OMIM:131300
9131	AIFM1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9131	AIFM1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9131	AIFM1	HP:0003016	Metaphyseal widening	-	OMIM:300232
9131	AIFM1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9131	AIFM1	HP:0003026	Short long bone	7/7	OMIM:615777
9131	AIFM1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9131	AIFM1	HP:0003020	Enlargement of the wrists	HP:0040282	ORPHA:83629
9131	AIFM1	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:83629
9131	AIFM1	HP:0012747	Abnormal brainstem MRI signal intensity	HP:0040282	ORPHA:83629
9131	AIFM1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9131	AIFM1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9131	AIFM1	HP:0000763	Sensory neuropathy	HP:0040281	ORPHA:101078
9131	AIFM1	HP:0000763	Sensory neuropathy	-	OMIM:310490
9131	AIFM1	HP:0000762	Decreased nerve conduction velocity	HP:0040281	ORPHA:101078
9131	AIFM1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9131	AIFM1	HP:0000737	Irritability	HP:0040282	ORPHA:238329
9131	AIFM1	HP:0000737	Irritability	1/2	OMIM:300816
9131	AIFM1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:238329
9131	AIFM1	HP:0000750	Delayed speech and language development	-	OMIM:615777
9131	AIFM1	HP:0012704	Widened subarachnoid space	-	OMIM:300232
9131	AIFM1	HP:0011463	Childhood onset	16/16	OMIM:300614
9131	AIFM1	HP:0011463	Childhood onset	7/7	OMIM:300232
9131	AIFM1	HP:0011461	Fetal onset	7/7	OMIM:615777
9131	AIFM1	HP:0000774	Narrow chest	2/7	OMIM:615777
9131	AIFM1	HP:0004454	Abnormal middle ear reflexes	-	OMIM:300614
9131	AIFM1	HP:0000926	Platyspondyly	-	OMIM:300232
9131	AIFM1	HP:0000926	Platyspondyly	1/7	OMIM:615777
9131	AIFM1	HP:0003180	Flat acetabular roof	-	OMIM:615777
9131	AIFM1	HP:0000907	Anterior rib cupping	-	OMIM:300232
9131	AIFM1	HP:0004482	Relative macrocephaly	-	OMIM:615777
9131	AIFM1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9131	AIFM1	HP:0000884	Prominent sternum	-	OMIM:300232
9131	AIFM1	HP:0000883	Thin ribs	-	OMIM:300232
9131	AIFM1	HP:0000823	Delayed puberty	-	OMIM:131300
9131	AIFM1	HP:0000894	Short clavicles	-	OMIM:615777
9131	AIFM1	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:310490
9131	AIFM1	HP:0030866	Large knee	HP:0040282	ORPHA:83629
9131	AIFM1	HP:0005871	Metaphyseal chondrodysplasia	HP:0040281	ORPHA:83629
9131	AIFM1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:101078
9131	AIFM1	HP:0003202	Skeletal muscle atrophy	0/16	OMIM:300614
9131	AIFM1	HP:0003202	Skeletal muscle atrophy	1/2	OMIM:300816
9131	AIFM1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:238329
9131	AIFM1	HP:0003202	Skeletal muscle atrophy	7/7	OMIM:300232
9131	AIFM1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9131	AIFM1	HP:0003200	Ragged-red muscle fibers	1/1	OMIM:300816
9131	AIFM1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9131	AIFM1	HP:0009381	Short finger	-	OMIM:300232
9131	AIFM1	HP:0000286	Epicanthus	1/7	OMIM:615777
9131	AIFM1	HP:0000280	Coarse facial features	-	OMIM:300232
9131	AIFM1	HP:0000280	Coarse facial features	2/7	OMIM:615777
9131	AIFM1	HP:0000294	Low anterior hairline	-	OMIM:300232
9131	AIFM1	HP:0000272	Malar flattening	-	OMIM:300232
9131	AIFM1	HP:0006423	Peg-like central prominence of distal tibial metaphyses	-	OMIM:300232
9131	AIFM1	HP:0002812	Coxa vara	-	OMIM:300232
9131	AIFM1	HP:0002827	Hip dislocation	3/7	OMIM:615777
9131	AIFM1	HP:0002808	Kyphosis	HP:0040282	ORPHA:101078
9131	AIFM1	HP:0000252	Microcephaly	-	OMIM:615777
9131	AIFM1	HP:0000218	High palate	-	OMIM:300232
9131	AIFM1	HP:0002857	Genu valgum	-	OMIM:131300
9131	AIFM1	HP:0002869	Flared iliac wing	-	OMIM:300232
9131	AIFM1	HP:0001533	Slender build	-	OMIM:131300
9131	AIFM1	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:83629
9131	AIFM1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9131	AIFM1	HP:0007807	Optic nerve compression	-	OMIM:131300
9131	AIFM1	HP:0012368	Flat face	7/7	OMIM:615777
9131	AIFM1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9131	AIFM1	HP:0002936	Distal sensory impairment	-	OMIM:300614
9131	AIFM1	HP:0002936	Distal sensory impairment	-	OMIM:310490
9131	AIFM1	HP:0002942	Thoracic kyphosis	-	OMIM:300232
9131	AIFM1	HP:0002910	Elevated circulating hepatic transaminase concentration	2/2	OMIM:310490
9131	AIFM1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:101078
9131	AIFM1	HP:0000365	Hearing impairment	16/16	OMIM:300614
9131	AIFM1	HP:0000365	Hearing impairment	10/67	OMIM:131300
9131	AIFM1	HP:0000365	Hearing impairment	-	OMIM:310490
9131	AIFM1	HP:0000360	Tinnitus	12/16	OMIM:300614
9131	AIFM1	HP:0000369	Low-set ears	-	OMIM:300232
9131	AIFM1	HP:0000343	Long philtrum	1/7	OMIM:615777
9131	AIFM1	HP:0011001	Increased bone mineral density	-	OMIM:131300
9131	AIFM1	HP:0000316	Hypertelorism	4/4	OMIM:300232
9131	AIFM1	HP:0000311	Round face	2/7	OMIM:615777
9131	AIFM1	HP:0002970	Genu varum	-	OMIM:615777
9131	AIFM1	HP:0000303	Mandibular prognathia	-	OMIM:131300
9131	AIFM1	HP:0000407	Sensorineural hearing impairment	3/7	OMIM:310490
9131	AIFM1	HP:0005280	Depressed nasal bridge	4/4	OMIM:300232
9131	AIFM1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:83629
9131	AIFM1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9131	AIFM1	HP:0000463	Anteverted nares	4/4	OMIM:300232
9131	AIFM1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:83629
9131	AIFM1	HP:0000455	Broad nasal tip	-	OMIM:300232
9131	AIFM1	HP:0000470	Short neck	-	OMIM:300232
9131	AIFM1	HP:0000470	Short neck	1/7	OMIM:615777
9131	AIFM1	HP:0001769	Broad foot	-	OMIM:300232
9131	AIFM1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9131	AIFM1	HP:0001763	Pes planus	1/7	OMIM:615777
9131	AIFM1	HP:0001761	Pes cavus	HP:0040281	ORPHA:101078
9131	AIFM1	HP:0001840	Metatarsus adductus	-	OMIM:615777
9131	AIFM1	HP:0000520	Proptosis	2/4	OMIM:131300
9131	AIFM1	HP:0000520	Proptosis	7/7	OMIM:615777
9131	AIFM1	HP:0000505	Visual impairment	HP:0040282	ORPHA:83629
9131	AIFM1	HP:0000592	Blue sclerae	2/7	OMIM:615777
9131	AIFM1	HP:0000587	Abnormal optic nerve morphology	HP:0040282	ORPHA:83629
9131	AIFM1	HP:0000574	Thick eyebrow	-	OMIM:300232
9131	AIFM1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9131	AIFM1	HP:0012514	Lower limb pain	4/4	OMIM:131300
9131	AIFM1	HP:0000543	Optic disc pallor	-	OMIM:300232
9131	AIFM1	HP:0000545	Myopia	4/16	OMIM:300614
9132	KCNQ4	HP:0000006	Autosomal dominant inheritance	-	OMIM:600101
9132	KCNQ4	HP:0003676	Progressive	-	OMIM:600101
9132	KCNQ4	HP:0000365	Hearing impairment	-	OMIM:600101
9132	KCNQ4	HP:0000360	Tinnitus	-	OMIM:600101
9138	ARHGEF1	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	2/2	OMIM:618459
9138	ARHGEF1	HP:0010976	Decreased total B cell count	2/2	OMIM:618459
9138	ARHGEF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618459
9138	ARHGEF1	HP:0002783	Recurrent lower respiratory tract infections	2/2	OMIM:618459
9138	ARHGEF1	HP:0002788	Recurrent upper respiratory tract infections	2/2	OMIM:618459
9138	ARHGEF1	HP:0002110	Bronchiectasis	2/2	OMIM:618459
9138	ARHGEF1	HP:0032139	Reduced isohemagglutinin level	1/1	OMIM:618459
9138	ARHGEF1	HP:0003621	Juvenile onset	2/2	OMIM:618459
9138	ARHGEF1	HP:0001973	Autoimmune thrombocytopenia	1/2	OMIM:618459
9138	ARHGEF1	HP:0004315	Decreased circulating IgG concentration	2/2	OMIM:618459
9138	ARHGEF1	HP:0002850	Decreased circulating total IgM	1/2	OMIM:618459
9138	ARHGEF1	HP:0005353	Recurrent herpes	2/2	OMIM:618459
9138	ARHGEF1	HP:0005428	Severe recurrent varicella	2/2	OMIM:618459
9138	ARHGEF1	HP:0030374	Decreased proportion of memory B cells	2/2	OMIM:618459
9138	ARHGEF1	HP:0030381	Increased transitional B cell proportion	2/2	OMIM:618459
9147	NEMF	HP:0001290	Generalized hypotonia	4/9	OMIM:619099
9147	NEMF	HP:0001251	Ataxia	3/9	OMIM:619099
9147	NEMF	HP:0001249	Intellectual disability	7/9	OMIM:619099
9147	NEMF	HP:0001263	Global developmental delay	7/9	OMIM:619099
9147	NEMF	HP:0000007	Autosomal recessive inheritance	-	OMIM:619099
9147	NEMF	HP:0001337	Tremor	2/8	OMIM:619099
9147	NEMF	HP:0002751	Kyphoscoliosis	4/9	OMIM:619099
9147	NEMF	HP:0002098	Respiratory distress	1/9	OMIM:619099
9147	NEMF	HP:0003477	Peripheral axonal neuropathy	4/4	OMIM:619099
9147	NEMF	HP:0003593	Infantile onset	2/9	OMIM:619099
9147	NEMF	HP:0003693	Distal amyotrophy	7/9	OMIM:619099
9147	NEMF	HP:0000750	Delayed speech and language development	9/9	OMIM:619099
9147	NEMF	HP:0011463	Childhood onset	7/9	OMIM:619099
9149	DYRK1B	HP:0001297	Stroke	3/27	OMIM:615812
9149	DYRK1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:615812
9149	DYRK1B	HP:0005978	Type II diabetes mellitus	25/27	OMIM:615812
9149	DYRK1B	HP:0002155	Hypertriglyceridemia	5/27	OMIM:615812
9149	DYRK1B	HP:0003596	Middle age onset	22/27	OMIM:615812
9149	DYRK1B	HP:0001956	Truncal obesity	-	OMIM:615812
9149	DYRK1B	HP:0003074	Hyperglycemia	5/27	OMIM:615812
9149	DYRK1B	HP:0012743	Abdominal obesity	26/26	OMIM:615812
9149	DYRK1B	HP:0011462	Young adult onset	5/27	OMIM:615812
9149	DYRK1B	HP:0003124	Hypercholesterolemia	11/27	OMIM:615812
9149	DYRK1B	HP:0003141	Increased LDL cholesterol concentration	10/27	OMIM:615812
9149	DYRK1B	HP:0000822	Hypertension	27/27	OMIM:615812
9149	DYRK1B	HP:0005145	Coronary artery stenosis	-	OMIM:615812
9149	DYRK1B	HP:0001658	Myocardial infarction	23/27	OMIM:615812
9150	CTDP1	HP:0001171	Split hand	-	OMIM:604168
9150	CTDP1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:48431
9150	CTDP1	HP:0001270	Motor delay	-	OMIM:604168
9150	CTDP1	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:48431
9150	CTDP1	HP:0001251	Ataxia	-	OMIM:604168
9150	CTDP1	HP:0001251	Ataxia	HP:0040283	ORPHA:48431
9150	CTDP1	HP:0001249	Intellectual disability	-	OMIM:604168
9150	CTDP1	HP:0001263	Global developmental delay	-	OMIM:604168
9150	CTDP1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:48431
9150	CTDP1	HP:0008734	Decreased testicular size	HP:0040283	OMIM:604168
9150	CTDP1	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:604168
9150	CTDP1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:48431
9150	CTDP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:604168
9150	CTDP1	HP:0001310	Dysmetria	HP:0040283	ORPHA:48431
9150	CTDP1	HP:0002650	Scoliosis	HP:0040282	ORPHA:48431
9150	CTDP1	HP:0000164	Abnormality of the dentition	-	OMIM:604168
9150	CTDP1	HP:0008942	Acute rhabdomyolysis	-	OMIM:604168
9150	CTDP1	HP:0008942	Acute rhabdomyolysis	HP:0040283	ORPHA:48431
9150	CTDP1	HP:0002751	Kyphoscoliosis	-	OMIM:604168
9150	CTDP1	HP:0003319	Abnormality of the cervical spine	HP:0040283	ORPHA:48431
9150	CTDP1	HP:0002080	Intention tremor	HP:0040283	ORPHA:48431
9150	CTDP1	HP:0100543	Cognitive impairment	-	OMIM:604168
9150	CTDP1	HP:0002072	Chorea	-	OMIM:604168
9150	CTDP1	HP:0002072	Chorea	HP:0040283	ORPHA:48431
9150	CTDP1	HP:0002059	Cerebral atrophy	-	OMIM:604168
9150	CTDP1	HP:0003487	Babinski sign	-	OMIM:604168
9150	CTDP1	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:48431
9150	CTDP1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:48431
9150	CTDP1	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:604168
9150	CTDP1	HP:0008214	Decreased serum estradiol	-	OMIM:604168
9150	CTDP1	HP:0003401	Paresthesia	HP:0040281	ORPHA:48431
9150	CTDP1	HP:0003593	Infantile onset	-	OMIM:604168
9150	CTDP1	HP:0034681	Finger joint contracture	HP:0040281	ORPHA:48431
9150	CTDP1	HP:0010620	Malar prominence	-	OMIM:604168
9150	CTDP1	HP:0010620	Malar prominence	HP:0040281	ORPHA:48431
9150	CTDP1	HP:0007182	Peripheral hypomyelination	-	OMIM:604168
9150	CTDP1	HP:0007182	Peripheral hypomyelination	HP:0040281	ORPHA:48431
9150	CTDP1	HP:0007178	Motor polyneuropathy	-	OMIM:604168
9150	CTDP1	HP:0000639	Nystagmus	-	OMIM:604168
9150	CTDP1	HP:0000639	Nystagmus	HP:0040281	ORPHA:48431
9150	CTDP1	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:48431
9150	CTDP1	HP:0001999	Abnormal facial shape	-	OMIM:604168
9150	CTDP1	HP:0004322	Short stature	-	OMIM:604168
9150	CTDP1	HP:0004322	Short stature	HP:0040281	ORPHA:48431
9150	CTDP1	HP:0000763	Sensory neuropathy	HP:0040281	ORPHA:48431
9150	CTDP1	HP:0000764	Peripheral axonal degeneration	-	OMIM:604168
9150	CTDP1	HP:0000786	Primary amenorrhea	HP:0040283	OMIM:604168
9150	CTDP1	HP:0003134	Abnormality of peripheral nerve conduction	HP:0040281	ORPHA:48431
9150	CTDP1	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:604168
9150	CTDP1	HP:0040078	Axonal degeneration	-	OMIM:604168
9150	CTDP1	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040282	ORPHA:48431
9150	CTDP1	HP:0005830	Flexion contracture of toe	HP:0040281	ORPHA:48431
9150	CTDP1	HP:0000939	Osteoporosis	HP:0040282	ORPHA:48431
9150	CTDP1	HP:0002816	Genu recurvatum	-	OMIM:604168
9150	CTDP1	HP:0002808	Kyphosis	HP:0040281	ORPHA:48431
9150	CTDP1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:48431
9150	CTDP1	HP:0011096	Peripheral demyelination	-	OMIM:604168
9150	CTDP1	HP:0000347	Micrognathia	HP:0040281	ORPHA:48431
9150	CTDP1	HP:0000486	Strabismus	HP:0040281	ORPHA:48431
9150	CTDP1	HP:0000482	Microcornea	-	OMIM:604168
9150	CTDP1	HP:0000482	Microcornea	HP:0040281	ORPHA:48431
9150	CTDP1	HP:0001762	Talipes equinovarus	-	OMIM:604168
9150	CTDP1	HP:0001761	Pes cavus	-	OMIM:604168
9150	CTDP1	HP:0000518	Cataract	HP:0040281	ORPHA:48431
9150	CTDP1	HP:0000519	Developmental cataract	-	OMIM:604168
9150	CTDP1	HP:0000568	Microphthalmia	HP:0040281	ORPHA:48431
9152	SLC6A5	HP:0001276	Hypertonia	4/6	OMIM:614618
9152	SLC6A5	HP:0001276	Hypertonia	HP:0040281	ORPHA:3197
9152	SLC6A5	HP:0001288	Gait disturbance	HP:0040282	ORPHA:3197
9152	SLC6A5	HP:0001279	Syncope	1/6	OMIM:614618
9152	SLC6A5	HP:0001250	Seizure	HP:0040283	ORPHA:3197
9152	SLC6A5	HP:0001251	Ataxia	HP:0040281	ORPHA:3197
9152	SLC6A5	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3197
9152	SLC6A5	HP:0001263	Global developmental delay	1/6	OMIM:614618
9152	SLC6A5	HP:0001257	Spasticity	HP:0040281	ORPHA:3197
9152	SLC6A5	HP:0001373	Joint dislocation	HP:0040283	ORPHA:3197
9152	SLC6A5	HP:0001387	Joint stiffness	HP:0040281	ORPHA:3197
9152	SLC6A5	HP:0001348	Brisk reflexes	1/6	OMIM:614618
9152	SLC6A5	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:3197
9152	SLC6A5	HP:0000007	Autosomal recessive inheritance	-	OMIM:614618
9152	SLC6A5	HP:0000006	Autosomal dominant inheritance	-	OMIM:614618
9152	SLC6A5	HP:0001336	Myoclonus	1/6	OMIM:614618
9152	SLC6A5	HP:0001336	Myoclonus	HP:0040281	ORPHA:3197
9152	SLC6A5	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:3197
9152	SLC6A5	HP:0002020	Gastroesophageal reflux	1/6	OMIM:614618
9152	SLC6A5	HP:0002036	Hiatus hernia	HP:0040281	ORPHA:3197
9152	SLC6A5	HP:0002036	Hiatus hernia	1/6	OMIM:614618
9152	SLC6A5	HP:0005943	Respiratory arrest	1/6	OMIM:614618
9152	SLC6A5	HP:0002069	Bilateral tonic-clonic seizure	2/6	OMIM:614618
9152	SLC6A5	HP:0002063	Rigidity	HP:0040281	ORPHA:3197
9152	SLC6A5	HP:0002104	Apnea	1/6	OMIM:614618
9152	SLC6A5	HP:0002267	Exaggerated startle response	6/6	OMIM:614618
9152	SLC6A5	HP:0003552	Muscle stiffness	HP:0040281	ORPHA:3197
9152	SLC6A5	HP:0003552	Muscle stiffness	-	OMIM:614618
9152	SLC6A5	HP:0100790	Hernia	HP:0040282	ORPHA:3197
9152	SLC6A5	HP:0002380	Fasciculations	HP:0040281	ORPHA:3197
9152	SLC6A5	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:3197
9152	SLC6A5	HP:0100633	Esophagitis	HP:0040281	ORPHA:3197
9152	SLC6A5	HP:0003623	Neonatal onset	6/6	OMIM:614618
9152	SLC6A5	HP:0011412	Ventouse delivery	1/6	OMIM:614618
9152	SLC6A5	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:3197
9152	SLC6A5	HP:0002827	Hip dislocation	HP:0040283	ORPHA:3197
9152	SLC6A5	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:3197
9152	SLC6A5	HP:0012420	Meconium stained amniotic fluid	2/6	OMIM:614618
9154	SLC28A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618477
9154	SLC28A1	HP:0032573	Elevated urinary cytidine	-	OMIM:618477
9154	SLC28A1	HP:0032574	Elevated urinary uridine level	-	OMIM:618477
9158	FIBP	HP:0001176	Large hands	HP:0040283	ORPHA:500095
9158	FIBP	HP:0001176	Large hands	-	OMIM:617107
9158	FIBP	HP:0001172	Abnormal thumb morphology	HP:0040283	ORPHA:500095
9158	FIBP	HP:0410255	Transiently decreased total neutrophil count	1/1	OMIM:617107
9158	FIBP	HP:0410255	Transiently decreased total neutrophil count	HP:0040282	ORPHA:500095
9158	FIBP	HP:0410252	Persistently decreased total neutrophil count	HP:0040282	ORPHA:500095
9158	FIBP	HP:0001256	Intellectual disability, mild	-	OMIM:617107
9158	FIBP	HP:0001249	Intellectual disability	HP:0040282	ORPHA:500095
9158	FIBP	HP:0001263	Global developmental delay	1/1	OMIM:617107
9158	FIBP	HP:0001263	Global developmental delay	HP:0040282	ORPHA:500095
9158	FIBP	HP:0031069	Abnormal femoral torsion	HP:0040283	ORPHA:500095
9158	FIBP	HP:0000098	Tall stature	-	OMIM:617107
9158	FIBP	HP:0000023	Inguinal hernia	1/1	OMIM:617107
9158	FIBP	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:500095
9158	FIBP	HP:0001328	Specific learning disability	HP:0040282	ORPHA:500095
9158	FIBP	HP:0000007	Autosomal recessive inheritance	-	OMIM:617107
9158	FIBP	HP:0002667	Nephroblastoma	HP:0040283	ORPHA:500095
9158	FIBP	HP:0002667	Nephroblastoma	HP:0040283	OMIM:617107
9158	FIBP	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:500095
9158	FIBP	HP:0002619	Varicose veins	HP:0040283	ORPHA:500095
9158	FIBP	HP:0002619	Varicose veins	1/1	OMIM:617107
9158	FIBP	HP:0000158	Macroglossia	HP:0040283	ORPHA:500095
9158	FIBP	HP:0000158	Macroglossia	1/1	OMIM:617107
9158	FIBP	HP:0000110	Renal dysplasia	HP:0040283	OMIM:617107
9158	FIBP	HP:0000107	Renal cyst	HP:0040283	OMIM:617107
9158	FIBP	HP:0000105	Enlarged kidney	HP:0040283	ORPHA:500095
9158	FIBP	HP:0011800	Midface retrusion	-	OMIM:617107
9158	FIBP	HP:0011800	Midface retrusion	HP:0040283	ORPHA:500095
9158	FIBP	HP:0004712	Renal malrotation	1/1	OMIM:617107
9158	FIBP	HP:0004712	Renal malrotation	HP:0040282	ORPHA:500095
9158	FIBP	HP:0003577	Congenital onset	1/1	OMIM:617107
9158	FIBP	HP:0100694	Tibial torsion	HP:0040283	ORPHA:500095
9158	FIBP	HP:0010741	Pedal edema	1/1	OMIM:617107
9158	FIBP	HP:0000637	Long palpebral fissure	HP:0040283	ORPHA:500095
9158	FIBP	HP:0000637	Long palpebral fissure	1/1	OMIM:617107
9158	FIBP	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:500095
9158	FIBP	HP:0011407	Proportionate tall stature	HP:0040282	ORPHA:500095
9158	FIBP	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:500095
9158	FIBP	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:500095
9158	FIBP	HP:0000286	Epicanthus	-	OMIM:617107
9158	FIBP	HP:0000286	Epicanthus	HP:0040283	ORPHA:500095
9158	FIBP	HP:0000256	Macrocephaly	1/1	OMIM:617107
9158	FIBP	HP:0000256	Macrocephaly	HP:0040282	ORPHA:500095
9158	FIBP	HP:0001548	Overgrowth	1/1	OMIM:617107
9158	FIBP	HP:0030037	Bifid ureter	1/1	OMIM:617107
9158	FIBP	HP:0030037	Bifid ureter	HP:0040282	ORPHA:500095
9158	FIBP	HP:0001520	Large for gestational age	HP:0040282	ORPHA:500095
9158	FIBP	HP:0001520	Large for gestational age	-	OMIM:617107
9158	FIBP	HP:0012385	Camptodactyly	HP:0040282	ORPHA:500095
9158	FIBP	HP:0002982	Tibial bowing	HP:0040283	ORPHA:500095
9158	FIBP	HP:0002979	Bowing of the legs	HP:0040283	OMIM:617107
9158	FIBP	HP:0000316	Hypertelorism	-	OMIM:617107
9158	FIBP	HP:0000316	Hypertelorism	HP:0040283	ORPHA:500095
9158	FIBP	HP:0000311	Round face	HP:0040283	ORPHA:500095
9158	FIBP	HP:0000311	Round face	-	OMIM:617107
9158	FIBP	HP:0001629	Ventricular septal defect	1/1	OMIM:617107
9158	FIBP	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:500095
9158	FIBP	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:500095
9158	FIBP	HP:0001634	Mitral valve prolapse	1/1	OMIM:617107
9158	FIBP	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:617107
9158	FIBP	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:500095
9158	FIBP	HP:0000400	Macrotia	-	OMIM:617107
9158	FIBP	HP:0000400	Macrotia	HP:0040283	ORPHA:500095
9158	FIBP	HP:0001707	Abnormal right ventricle morphology	HP:0040283	ORPHA:500095
9158	FIBP	HP:0000483	Astigmatism	HP:0040283	ORPHA:500095
9158	FIBP	HP:0000486	Strabismus	-	OMIM:617107
9158	FIBP	HP:0000486	Strabismus	HP:0040283	ORPHA:500095
9158	FIBP	HP:0000480	Retinal coloboma	HP:0040282	ORPHA:500095
9158	FIBP	HP:0000480	Retinal coloboma	1/1	OMIM:617107
9158	FIBP	HP:0012471	Thick vermilion border	1/1	OMIM:617107
9158	FIBP	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:500095
9158	FIBP	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:617107
9158	FIBP	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:500095
9158	FIBP	HP:0000490	Deeply set eye	-	OMIM:617107
9158	FIBP	HP:0000490	Deeply set eye	HP:0040283	ORPHA:500095
9158	FIBP	HP:0001763	Pes planus	HP:0040283	OMIM:617107
9158	FIBP	HP:0000411	Protruding ear	1/1	OMIM:617107
9158	FIBP	HP:0000411	Protruding ear	HP:0040283	ORPHA:500095
9158	FIBP	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:500095
9158	FIBP	HP:0000518	Cataract	HP:0040283	ORPHA:500095
9158	FIBP	HP:0001847	Long hallux	HP:0040283	ORPHA:500095
9158	FIBP	HP:0001847	Long hallux	-	OMIM:617107
9158	FIBP	HP:0001840	Metatarsus adductus	HP:0040283	ORPHA:500095
9158	FIBP	HP:0001833	Long foot	HP:0040283	ORPHA:500095
9158	FIBP	HP:0001833	Long foot	-	OMIM:617107
9158	FIBP	HP:0000589	Coloboma	-	OMIM:617107
9179	AP4M1	HP:0001181	Adducted thumb	4/5	OMIM:612936
9179	AP4M1	HP:0002465	Poor speech	HP:0040282	ORPHA:280763
9179	AP4M1	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:280763
9179	AP4M1	HP:0100962	Excessive shyness	HP:0040283	ORPHA:280763
9179	AP4M1	HP:0010864	Intellectual disability, severe	5/5	OMIM:612936
9179	AP4M1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:280763
9179	AP4M1	HP:0001272	Cerebellar atrophy	-	OMIM:612936
9179	AP4M1	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:280763
9179	AP4M1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:280763
9179	AP4M1	HP:0001250	Seizure	-	OMIM:612936
9179	AP4M1	HP:0001250	Seizure	HP:0040283	ORPHA:280763
9179	AP4M1	HP:0001252	Hypotonia	5/5	OMIM:612936
9179	AP4M1	HP:0001252	Hypotonia	HP:0040281	ORPHA:280763
9179	AP4M1	HP:0001251	Ataxia	0/5	OMIM:612936
9179	AP4M1	HP:0001263	Global developmental delay	5/5	OMIM:612936
9179	AP4M1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:280763
9179	AP4M1	HP:0001257	Spasticity	HP:0040282	ORPHA:280763
9179	AP4M1	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:280763
9179	AP4M1	HP:0002515	Waddling gait	HP:0040282	ORPHA:280763
9179	AP4M1	HP:0002510	Spastic tetraplegia	5/5	OMIM:612936
9179	AP4M1	HP:0002509	Limb hypertonia	4/4	OMIM:612936
9179	AP4M1	HP:0033683	Jaw hyperreflexia	4/4	OMIM:612936
9179	AP4M1	HP:0008807	Acetabular dysplasia	HP:0040284	ORPHA:280763
9179	AP4M1	HP:0001347	Hyperreflexia	4/4	OMIM:612936
9179	AP4M1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:280763
9179	AP4M1	HP:0001332	Dystonia	HP:0040282	ORPHA:280763
9179	AP4M1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612936
9179	AP4M1	HP:0001319	Neonatal hypotonia	-	OMIM:612936
9179	AP4M1	HP:0000154	Wide mouth	-	OMIM:612936
9179	AP4M1	HP:0000154	Wide mouth	HP:0040283	ORPHA:280763
9179	AP4M1	HP:0002761	Generalized joint hypermobility	HP:0040284	ORPHA:280763
9179	AP4M1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:612936
9179	AP4M1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:280763
9179	AP4M1	HP:0003487	Babinski sign	4/4	OMIM:612936
9179	AP4M1	HP:0003487	Babinski sign	HP:0040282	ORPHA:280763
9179	AP4M1	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:280763
9179	AP4M1	HP:0002119	Ventriculomegaly	3/4	OMIM:612936
9179	AP4M1	HP:0002171	Gliosis	-	OMIM:612936
9179	AP4M1	HP:0003577	Congenital onset	5/5	OMIM:612936
9179	AP4M1	HP:0002200	Pseudobulbar signs	-	OMIM:612936
9179	AP4M1	HP:0007020	Progressive spastic paraplegia	HP:0040281	ORPHA:280763
9179	AP4M1	HP:0010803	Everted upper lip vermilion	HP:0040283	ORPHA:280763
9179	AP4M1	HP:0002307	Drooling	3/4	OMIM:612936
9179	AP4M1	HP:0002307	Drooling	HP:0040282	ORPHA:280763
9179	AP4M1	HP:0006887	Intellectual disability, progressive	-	OMIM:612936
9179	AP4M1	HP:0000646	Amblyopia	HP:0040284	ORPHA:280763
9179	AP4M1	HP:0004322	Short stature	HP:0040282	ORPHA:280763
9179	AP4M1	HP:0100021	Cerebral palsy	5/5	OMIM:612936
9179	AP4M1	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:280763
9179	AP4M1	HP:0012811	Wide nasal ridge	-	OMIM:612936
9179	AP4M1	HP:0000280	Coarse facial features	-	OMIM:612936
9179	AP4M1	HP:0000280	Coarse facial features	HP:0040282	ORPHA:280763
9179	AP4M1	HP:0000297	Facial hypotonia	HP:0040282	ORPHA:280763
9179	AP4M1	HP:0002816	Genu recurvatum	HP:0040284	ORPHA:280763
9179	AP4M1	HP:0000252	Microcephaly	-	OMIM:612936
9179	AP4M1	HP:0000252	Microcephaly	HP:0040281	ORPHA:280763
9179	AP4M1	HP:0000218	High palate	-	OMIM:612936
9179	AP4M1	HP:0000218	High palate	HP:0040283	ORPHA:280763
9179	AP4M1	HP:0025502	Overweight	HP:0040283	ORPHA:280763
9179	AP4M1	HP:0000341	Narrow forehead	-	OMIM:612936
9179	AP4M1	HP:0000341	Narrow forehead	HP:0040283	ORPHA:280763
9179	AP4M1	HP:0000322	Short philtrum	-	OMIM:612936
9179	AP4M1	HP:0000322	Short philtrum	HP:0040283	ORPHA:280763
9179	AP4M1	HP:0000303	Mandibular prognathia	-	OMIM:612936
9179	AP4M1	HP:0000486	Strabismus	-	OMIM:612936
9179	AP4M1	HP:0000486	Strabismus	HP:0040284	ORPHA:280763
9179	AP4M1	HP:0001763	Pes planus	HP:0040283	ORPHA:280763
9179	AP4M1	HP:0000414	Bulbous nose	-	OMIM:612936
9179	AP4M1	HP:0000414	Bulbous nose	HP:0040282	ORPHA:280763
9179	AP4M1	HP:0001762	Talipes equinovarus	2/5	OMIM:612936
9179	AP4M1	HP:0000543	Optic disc pallor	1/5	OMIM:612936
9180	OSMR	HP:0000006	Autosomal dominant inheritance	-	OMIM:105250
9180	OSMR	HP:0100725	Lichenification	16/16	OMIM:105250
9180	OSMR	HP:0011463	Childhood onset	16/16	OMIM:105250
9180	OSMR	HP:0000989	Pruritus	16/16	OMIM:105250
9180	OSMR	HP:0000958	Dry skin	-	OMIM:105250
9180	OSMR	HP:0040189	Scaling skin	-	OMIM:105250
9180	OSMR	HP:0012309	Cutaneous amyloidosis	16/16	OMIM:105250
9181	ARHGEF2	HP:0001270	Motor delay	-	OMIM:617523
9181	ARHGEF2	HP:0001252	Hypotonia	2/2	OMIM:617523
9181	ARHGEF2	HP:0001249	Intellectual disability	2/2	OMIM:617523
9181	ARHGEF2	HP:0001265	Hyporeflexia	2/2	OMIM:617523
9181	ARHGEF2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617523
9181	ARHGEF2	HP:0001320	Cerebellar vermis hypoplasia	1/2	OMIM:617523
9181	ARHGEF2	HP:0012110	Hypoplasia of the pons	2/2	OMIM:617523
9181	ARHGEF2	HP:0002162	Low posterior hairline	1/2	OMIM:617523
9181	ARHGEF2	HP:0003577	Congenital onset	2/2	OMIM:617523
9181	ARHGEF2	HP:0002359	Frequent falls	2/2	OMIM:617523
9181	ARHGEF2	HP:0000649	Abnormality of visual evoked potentials	1/2	OMIM:617523
9181	ARHGEF2	HP:0000646	Amblyopia	1/2	OMIM:617523
9181	ARHGEF2	HP:0006958	Abnormal auditory evoked potentials	1/2	OMIM:617523
9181	ARHGEF2	HP:0000750	Delayed speech and language development	2/2	OMIM:617523
9181	ARHGEF2	HP:0011451	Primary microcephaly	2/2	OMIM:617523
9181	ARHGEF2	HP:0000988	Skin rash	1/2	OMIM:617523
9181	ARHGEF2	HP:0000219	Thin upper lip vermilion	-	OMIM:617523
9181	ARHGEF2	HP:0000218	High palate	1/2	OMIM:617523
9181	ARHGEF2	HP:0001500	Broad finger	1/2	OMIM:617523
9181	ARHGEF2	HP:0007811	Horizontal pendular nystagmus	1/2	OMIM:617523
9181	ARHGEF2	HP:0000343	Long philtrum	-	OMIM:617523
9181	ARHGEF2	HP:0006610	Wide intermamillary distance	1/2	OMIM:617523
9181	ARHGEF2	HP:0000483	Astigmatism	2/2	OMIM:617523
9181	ARHGEF2	HP:0000486	Strabismus	2/2	OMIM:617523
9181	ARHGEF2	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:617523
9181	ARHGEF2	HP:0000527	Long eyelashes	2/2	OMIM:617523
9181	ARHGEF2	HP:0000508	Ptosis	1/2	OMIM:617523
9181	ARHGEF2	HP:0000543	Optic disc pallor	1/2	OMIM:617523
9184	BUB3	HP:0010880	Increased nuchal translucency	HP:0040281	ORPHA:1052
9184	BUB3	HP:0001250	Seizure	HP:0040283	ORPHA:1052
9184	BUB3	HP:0001252	Hypotonia	HP:0040283	ORPHA:1052
9184	BUB3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1052
9184	BUB3	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1052
9184	BUB3	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1052
9184	BUB3	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:1052
9184	BUB3	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:1052
9184	BUB3	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:1052
9184	BUB3	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:1052
9184	BUB3	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:1052
9184	BUB3	HP:0002664	Neoplasm	HP:0040283	ORPHA:1052
9184	BUB3	HP:0002667	Nephroblastoma	HP:0040283	ORPHA:1052
9184	BUB3	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:1052
9184	BUB3	HP:0001305	Dandy-Walker malformation	HP:0040281	ORPHA:1052
9184	BUB3	HP:0000175	Cleft palate	HP:0040283	ORPHA:1052
9184	BUB3	HP:0012126	Stomach cancer	HP:0040283	ORPHA:1052
9184	BUB3	HP:0002797	Osteolysis	HP:0040283	ORPHA:1052
9184	BUB3	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1052
9184	BUB3	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1052
9184	BUB3	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:1052
9184	BUB3	HP:0002104	Apnea	HP:0040283	ORPHA:1052
9184	BUB3	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:1052
9184	BUB3	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:1052
9184	BUB3	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:1052
9184	BUB3	HP:0100650	Vaginal neoplasm	HP:0040283	ORPHA:1052
9184	BUB3	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:1052
9184	BUB3	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:1052
9184	BUB3	HP:0004322	Short stature	HP:0040281	ORPHA:1052
9184	BUB3	HP:0003003	Colon cancer	HP:0040283	ORPHA:1052
9184	BUB3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:1052
9184	BUB3	HP:0000929	Abnormal skull morphology	HP:0040283	ORPHA:1052
9184	BUB3	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:1052
9184	BUB3	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1052
9184	BUB3	HP:0000286	Epicanthus	HP:0040281	ORPHA:1052
9184	BUB3	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:1052
9184	BUB3	HP:0000252	Microcephaly	HP:0040282	ORPHA:1052
9184	BUB3	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:1052
9184	BUB3	HP:0002859	Rhabdomyosarcoma	HP:0040283	ORPHA:1052
9184	BUB3	HP:0001541	Ascites	HP:0040281	ORPHA:1052
9184	BUB3	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:1052
9184	BUB3	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:1052
9184	BUB3	HP:0001510	Growth delay	HP:0040283	ORPHA:1052
9184	BUB3	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1052
9184	BUB3	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:1052
9184	BUB3	HP:0000340	Sloping forehead	HP:0040283	ORPHA:1052
9184	BUB3	HP:0001682	Subvalvular aortic stenosis	HP:0040283	ORPHA:1052
9184	BUB3	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:1052
9184	BUB3	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:1052
9184	BUB3	HP:0000348	High forehead	HP:0040283	ORPHA:1052
9184	BUB3	HP:0000347	Micrognathia	HP:0040281	ORPHA:1052
9184	BUB3	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:1052
9184	BUB3	HP:0000325	Triangular face	HP:0040282	ORPHA:1052
9184	BUB3	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1052
9184	BUB3	HP:0007957	Corneal opacity	HP:0040281	ORPHA:1052
9184	BUB3	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:1052
9184	BUB3	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:1052
9184	BUB3	HP:0000457	Depressed nasal ridge	HP:0040283	ORPHA:1052
9184	BUB3	HP:0000445	Wide nose	HP:0040283	ORPHA:1052
9184	BUB3	HP:0006721	Acute lymphoblastic leukemia	HP:0040283	ORPHA:1052
9184	BUB3	HP:0000518	Cataract	HP:0040281	ORPHA:1052
9184	BUB3	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1052
9184	BUB3	HP:0000501	Glaucoma	HP:0040281	ORPHA:1052
9184	BUB3	HP:0000568	Microphthalmia	HP:0040281	ORPHA:1052
9187	SLC24A1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
9187	SLC24A1	HP:0007401	Macular atrophy	0/4	OMIM:613830
9187	SLC24A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
9187	SLC24A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613830
9187	SLC24A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
9187	SLC24A1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
9187	SLC24A1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
9187	SLC24A1	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:215
9187	SLC24A1	HP:0007642	Congenital stationary night blindness	5/5	OMIM:613830
9187	SLC24A1	HP:0003621	Juvenile onset	8/19	OMIM:180100
9187	SLC24A1	HP:0000639	Nystagmus	HP:0040282	ORPHA:215
9187	SLC24A1	HP:0030469	Abnormal dark-adapted electroretinogram	HP:0040281	ORPHA:215
9187	SLC24A1	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	HP:0040283	ORPHA:215
9187	SLC24A1	HP:0000662	Nyctalopia	26/28	OMIM:180100
9187	SLC24A1	HP:0000662	Nyctalopia	HP:0040281	ORPHA:215
9187	SLC24A1	HP:0030639	Congenital stationary night blindness with abnormal fundus	HP:0040282	ORPHA:215
9187	SLC24A1	HP:0030638	Congenital stationary night blindness with normal fundus	HP:0040282	ORPHA:215
9187	SLC24A1	HP:0011463	Childhood onset	3/19	OMIM:180100
9187	SLC24A1	HP:0011463	Childhood onset	5/5	OMIM:613830
9187	SLC24A1	HP:0011462	Young adult onset	8/19	OMIM:180100
9187	SLC24A1	HP:0007703	Abnormality of retinal pigmentation	HP:0040284	ORPHA:215
9187	SLC24A1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
9187	SLC24A1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
9187	SLC24A1	HP:0007843	Attenuation of retinal blood vessels	0/4	OMIM:613830
9187	SLC24A1	HP:0030329	Retinal thinning	HP:0040284	ORPHA:215
9187	SLC24A1	HP:0007984	Electronegative electroretinogram	HP:0040283	ORPHA:215
9187	SLC24A1	HP:0000486	Strabismus	HP:0040282	ORPHA:215
9187	SLC24A1	HP:0031705	Compensatory head posture	HP:0040283	ORPHA:215
9187	SLC24A1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
9187	SLC24A1	HP:0000580	Pigmentary retinopathy	0/4	OMIM:613830
9187	SLC24A1	HP:0000575	Scotoma	5/18	OMIM:180100
9187	SLC24A1	HP:0000540	Hypermetropia	HP:0040283	ORPHA:215
9187	SLC24A1	HP:0000551	Color vision defect	HP:0040284	ORPHA:215
9187	SLC24A1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
9187	SLC24A1	HP:0000545	Myopia	-	OMIM:180100
9187	SLC24A1	HP:0000545	Myopia	HP:0040281	ORPHA:215
9197	SLC33A1	HP:0007210	Lower limb amyotrophy	HP:0040282	ORPHA:171863
9197	SLC33A1	HP:0001272	Cerebellar atrophy	5/5	OMIM:614482
9197	SLC33A1	HP:0001250	Seizure	-	ORPHA:171863
9197	SLC33A1	HP:0001250	Seizure	2/5	OMIM:614482
9197	SLC33A1	HP:0001252	Hypotonia	-	OMIM:614482
9197	SLC33A1	HP:0001258	Spastic paraplegia	-	OMIM:612539
9197	SLC33A1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:171863
9197	SLC33A1	HP:0002540	Inability to walk	5/5	OMIM:614482
9197	SLC33A1	HP:0003819	Death in childhood	5/5	OMIM:614482
9197	SLC33A1	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:171863
9197	SLC33A1	HP:0001324	Muscle weakness	-	OMIM:612539
9197	SLC33A1	HP:0001344	Absent speech	5/5	OMIM:614482
9197	SLC33A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614482
9197	SLC33A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:612539
9197	SLC33A1	HP:0100561	Spinal cord lesion	HP:0040282	ORPHA:171863
9197	SLC33A1	HP:0002064	Spastic gait	-	OMIM:612539
9197	SLC33A1	HP:0002064	Spastic gait	HP:0040281	ORPHA:171863
9197	SLC33A1	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:171863
9197	SLC33A1	HP:0002059	Cerebral atrophy	5/5	OMIM:614482
9197	SLC33A1	HP:0003487	Babinski sign	HP:0040281	ORPHA:171863
9197	SLC33A1	HP:0003487	Babinski sign	-	OMIM:612539
9197	SLC33A1	HP:0003457	EMG abnormality	-	ORPHA:171863
9197	SLC33A1	HP:0003429	CNS hypomyelination	5/5	OMIM:614482
9197	SLC33A1	HP:0002169	Clonus	HP:0040282	ORPHA:171863
9197	SLC33A1	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:171863
9197	SLC33A1	HP:0003593	Infantile onset	5/5	OMIM:614482
9197	SLC33A1	HP:0007020	Progressive spastic paraplegia	HP:0040281	ORPHA:171863
9197	SLC33A1	HP:0011967	Decreased circulating copper concentration	4/4	OMIM:614482
9197	SLC33A1	HP:0002395	Lower limb hyperreflexia	-	OMIM:612539
9197	SLC33A1	HP:0003676	Progressive	-	OMIM:614482
9197	SLC33A1	HP:0002314	Degeneration of the lateral corticospinal tracts	HP:0040281	ORPHA:171863
9197	SLC33A1	HP:0010837	Decreased circulating ceruloplasmin concentration	4/4	OMIM:614482
9197	SLC33A1	HP:0006895	Lower limb hypertonia	HP:0040281	ORPHA:171863
9197	SLC33A1	HP:0000639	Nystagmus	3/5	OMIM:614482
9197	SLC33A1	HP:0011344	Severe global developmental delay	5/5	OMIM:614482
9197	SLC33A1	HP:0012704	Widened subarachnoid space	5/5	OMIM:614482
9197	SLC33A1	HP:0012898	Abnormal lower-limb motor evoked potentials	-	ORPHA:171863
9197	SLC33A1	HP:0003202	Skeletal muscle atrophy	-	OMIM:612539
9197	SLC33A1	HP:0002921	Abnormal cerebrospinal fluid morphology	-	ORPHA:171863
9197	SLC33A1	HP:0000365	Hearing impairment	5/5	OMIM:614482
9197	SLC33A1	HP:0001761	Pes cavus	HP:0040283	ORPHA:171863
9197	SLC33A1	HP:0001761	Pes cavus	-	OMIM:612539
9197	SLC33A1	HP:0000519	Developmental cataract	5/5	OMIM:614482
9200	HACD1	HP:0002421	Poor head control	HP:0040282	ORPHA:2020
9200	HACD1	HP:0003749	Pelvic girdle muscle weakness	HP:0040283	ORPHA:2020
9200	HACD1	HP:0001270	Motor delay	5/5	OMIM:619967
9200	HACD1	HP:0001270	Motor delay	HP:0040282	ORPHA:2020
9200	HACD1	HP:0001284	Areflexia	8/8	OMIM:619967
9200	HACD1	HP:0001284	Areflexia	HP:0040282	ORPHA:2020
9200	HACD1	HP:0001252	Hypotonia	8/8	OMIM:619967
9200	HACD1	HP:0001252	Hypotonia	HP:0040281	ORPHA:2020
9200	HACD1	HP:0002515	Waddling gait	5/5	OMIM:619967
9200	HACD1	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:2020
9200	HACD1	HP:0001371	Flexion contracture	HP:0040282	ORPHA:2020
9200	HACD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619967
9200	HACD1	HP:0002650	Scoliosis	HP:0040283	ORPHA:2020
9200	HACD1	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:2020
9200	HACD1	HP:0002643	Neonatal respiratory distress	1/7	OMIM:619967
9200	HACD1	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:2020
9200	HACD1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:2020
9200	HACD1	HP:0002015	Dysphagia	HP:0040282	ORPHA:2020
9200	HACD1	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:2020
9200	HACD1	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:2020
9200	HACD1	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:2020
9200	HACD1	HP:0005949	Apneic episodes in infancy	3/7	OMIM:619967
9200	HACD1	HP:0011807	Type 1 muscle fiber atrophy	HP:0040281	ORPHA:2020
9200	HACD1	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:2020
9200	HACD1	HP:0003391	Gowers sign	5/5	OMIM:619967
9200	HACD1	HP:0002058	Myopathic facies	HP:0040282	ORPHA:2020
9200	HACD1	HP:0003388	Easy fatigability	HP:0040282	ORPHA:2020
9200	HACD1	HP:0011922	Abnormal activity of mitochondrial respiratory chain	0/1	OMIM:619967
9200	HACD1	HP:0011842	Abnormal skeletal morphology	HP:0040282	ORPHA:2020
9200	HACD1	HP:0003547	Shoulder girdle muscle weakness	HP:0040283	ORPHA:2020
9200	HACD1	HP:0004878	Intercostal muscle weakness	HP:0040283	ORPHA:2020
9200	HACD1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:2020
9200	HACD1	HP:0011968	Feeding difficulties	5/7	OMIM:619967
9200	HACD1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2020
9200	HACD1	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:2020
9200	HACD1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:2020
9200	HACD1	HP:0002315	Headache	HP:0040283	ORPHA:2020
9200	HACD1	HP:0003623	Neonatal onset	8/8	OMIM:619967
9200	HACD1	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2020
9200	HACD1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:2020
9200	HACD1	HP:0000678	Dental crowding	HP:0040282	ORPHA:2020
9200	HACD1	HP:0009004	Hypoplasia of the musculature	HP:0040283	ORPHA:2020
9200	HACD1	HP:0004396	Poor appetite	HP:0040282	ORPHA:2020
9200	HACD1	HP:0004347	Weakness of muscles of respiration	HP:0040282	ORPHA:2020
9200	HACD1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:2020
9200	HACD1	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:2020
9200	HACD1	HP:0012785	Flexion contracture of finger	HP:0040283	ORPHA:2020
9200	HACD1	HP:0040081	Abnormal circulating creatine kinase concentration	0/8	OMIM:619967
9200	HACD1	HP:0003273	Hip contracture	HP:0040283	ORPHA:2020
9200	HACD1	HP:0000276	Long face	HP:0040283	ORPHA:2020
9200	HACD1	HP:0006466	Ankle flexion contracture	HP:0040283	ORPHA:2020
9200	HACD1	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:2020
9200	HACD1	HP:0002878	Respiratory failure	HP:0040283	ORPHA:2020
9200	HACD1	HP:0000218	High palate	HP:0040282	ORPHA:2020
9200	HACD1	HP:0001561	Polyhydramnios	0/8	OMIM:619967
9200	HACD1	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:2020
9200	HACD1	HP:0001558	Decreased fetal movement	0/8	OMIM:619967
9200	HACD1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:2020
9200	HACD1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2020
9200	HACD1	HP:0012378	Fatigue	HP:0040282	ORPHA:2020
9200	HACD1	HP:0005216	Impaired mastication	HP:0040283	ORPHA:2020
9200	HACD1	HP:0001609	Hoarse voice	HP:0040283	ORPHA:2020
9200	HACD1	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:2020
9200	HACD1	HP:0001612	Weak cry	7/7	OMIM:619967
9200	HACD1	HP:0002910	Elevated circulating hepatic transaminase concentration	0/8	OMIM:619967
9200	HACD1	HP:0000347	Micrognathia	HP:0040283	ORPHA:2020
9200	HACD1	HP:0001648	Cor pulmonale	HP:0040283	ORPHA:2020
9200	HACD1	HP:0001643	Patent ductus arteriosus	1/8	OMIM:619967
9200	HACD1	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:2020
9200	HACD1	HP:0001655	Patent foramen ovale	1/8	OMIM:619967
9200	HACD1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2020
9200	HACD1	HP:0001623	Breech presentation	3/7	OMIM:619967
9200	HACD1	HP:0001631	Atrial septal defect	1/8	OMIM:619967
9200	HACD1	HP:0030319	Weakness of facial musculature	4/5	OMIM:619967
9200	HACD1	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:2020
9200	HACD1	HP:0012416	Hypercapnia	HP:0040283	ORPHA:2020
9200	HACD1	HP:0012418	Hypoxemia	HP:0040283	ORPHA:2020
9200	HACD1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:2020
9200	HACD1	HP:0001761	Pes cavus	HP:0040283	ORPHA:2020
9200	HACD1	HP:0001824	Weight loss	HP:0040282	ORPHA:2020
9203	ZMYM3	HP:0010946	Dilatation of the renal pelvis	1/1	OMIM:301111
9203	ZMYM3	HP:0001270	Motor delay	18/26	OMIM:301111
9203	ZMYM3	HP:0002580	Volvulus	1/1	OMIM:301111
9203	ZMYM3	HP:0002579	Gastrointestinal dysmotility	2/2	OMIM:301111
9203	ZMYM3	HP:0001249	Intellectual disability	17/20	OMIM:301111
9203	ZMYM3	HP:0000086	Ectopic kidney	1/1	OMIM:301111
9203	ZMYM3	HP:0000085	Horseshoe kidney	1/3	OMIM:301111
9203	ZMYM3	HP:0000062	Ambiguous genitalia	1/1	OMIM:301111
9203	ZMYM3	HP:0000076	Vesicoureteral reflux	2/2	OMIM:301111
9203	ZMYM3	HP:0001382	Joint hypermobility	1/1	OMIM:301111
9203	ZMYM3	HP:0012020	Right aortic arch	1/3	OMIM:301111
9203	ZMYM3	HP:0000047	Hypospadias	6/6	OMIM:301111
9203	ZMYM3	HP:0000028	Cryptorchidism	2/2	OMIM:301111
9203	ZMYM3	HP:0002650	Scoliosis	2/2	OMIM:301111
9203	ZMYM3	HP:0001423	X-linked dominant inheritance	-	OMIM:301111
9203	ZMYM3	HP:0000107	Renal cyst	1/1	OMIM:301111
9203	ZMYM3	HP:0002751	Kyphoscoliosis	1/1	OMIM:301111
9203	ZMYM3	HP:0002020	Gastroesophageal reflux	4/4	OMIM:301111
9203	ZMYM3	HP:0002019	Constipation	2/2	OMIM:301111
9203	ZMYM3	HP:0002046	Heat intolerance	1/1	OMIM:301111
9203	ZMYM3	HP:0003593	Infantile onset	3/3	OMIM:301111
9203	ZMYM3	HP:0010677	Enuresis nocturna	2/3	OMIM:301111
9203	ZMYM3	HP:0007018	Attention deficit hyperactivity disorder	2/2	OMIM:301111
9203	ZMYM3	HP:0003502	Mild short stature	1/1	OMIM:301111
9203	ZMYM3	HP:0002360	Sleep abnormality	3/3	OMIM:301111
9203	ZMYM3	HP:0002342	Intellectual disability, moderate	3/3	OMIM:301111
9203	ZMYM3	HP:0004322	Short stature	5/5	OMIM:301111
9203	ZMYM3	HP:0000805	Enuresis	2/2	OMIM:301111
9203	ZMYM3	HP:0003067	Madelung deformity	1/1	OMIM:301111
9203	ZMYM3	HP:0000750	Delayed speech and language development	26/26	OMIM:301111
9203	ZMYM3	HP:0000729	Autistic behavior	15/21	OMIM:301111
9203	ZMYM3	HP:0000708	Atypical behavior	5/8	OMIM:301111
9203	ZMYM3	HP:0002808	Kyphosis	1/1	OMIM:301111
9203	ZMYM3	HP:0000252	Microcephaly	5/5	OMIM:301111
9203	ZMYM3	HP:0012378	Fatigue	1/1	OMIM:301111
9203	ZMYM3	HP:0000378	Cupped ear	3/3	OMIM:301111
9203	ZMYM3	HP:0012330	Pyelonephritis	1/1	OMIM:301111
9203	ZMYM3	HP:0001647	Bicuspid aortic valve	2/3	OMIM:301111
9203	ZMYM3	HP:0001627	Abnormal heart morphology	1/1	OMIM:301111
9203	ZMYM3	HP:0001737	Pancreatic cysts	1/1	OMIM:301111
9203	ZMYM3	HP:0000488	Retinopathy	1/1	OMIM:301111
9203	ZMYM3	HP:0012531	Pain	1/1	OMIM:301111
9203	ZMYM3	HP:0000545	Myopia	1/1	OMIM:301111
9210	BMP15	HP:0001166	Arachnodactyly	HP:0040284	ORPHA:243
9210	BMP15	HP:0009888	Abnormality of secondary sexual hair	HP:0040281	ORPHA:243
9210	BMP15	HP:0001251	Ataxia	HP:0040284	ORPHA:243
9210	BMP15	HP:0008684	Aplasia/hypoplasia of the uterus	HP:0040282	ORPHA:243
9210	BMP15	HP:0000062	Ambiguous genitalia	-	ORPHA:243
9210	BMP15	HP:0000013	Hypoplasia of the uterus	2/2	OMIM:300510
9210	BMP15	HP:0000144	Decreased fertility	HP:0040281	ORPHA:243
9210	BMP15	HP:0000133	Gonadal dysgenesis	HP:0040280	ORPHA:243
9210	BMP15	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:243
9210	BMP15	HP:0001417	X-linked inheritance	-	OMIM:300510
9210	BMP15	HP:0010464	Streak ovary	2/2	OMIM:300510
9210	BMP15	HP:0010464	Streak ovary	HP:0040282	ORPHA:243
9210	BMP15	HP:0008209	Premature ovarian insufficiency	-	OMIM:300510
9210	BMP15	HP:0008209	Premature ovarian insufficiency	HP:0040280	ORPHA:243
9210	BMP15	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:243
9210	BMP15	HP:0002225	Sparse pubic hair	HP:0040282	ORPHA:243
9210	BMP15	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:243
9210	BMP15	HP:0001007	Hirsutism	2/2	OMIM:300510
9210	BMP15	HP:0003621	Juvenile onset	2/2	OMIM:300510
9210	BMP15	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040283	ORPHA:243
9210	BMP15	HP:0004322	Short stature	HP:0040283	ORPHA:243
9210	BMP15	HP:0005625	Osteoporosis of vertebrae	HP:0040282	ORPHA:243
9210	BMP15	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:243
9210	BMP15	HP:0000786	Primary amenorrhea	2/2	OMIM:300510
9210	BMP15	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:243
9210	BMP15	HP:0000869	Secondary amenorrhea	-	OMIM:300510
9210	BMP15	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:243
9210	BMP15	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:243
9210	BMP15	HP:0000815	Hypergonadotropic hypogonadism	2/2	OMIM:300510
9210	BMP15	HP:0000823	Delayed puberty	2/2	OMIM:300510
9210	BMP15	HP:0000823	Delayed puberty	HP:0040281	ORPHA:243
9210	BMP15	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:243
9210	BMP15	HP:0000938	Osteopenia	HP:0040282	ORPHA:243
9210	BMP15	HP:0000252	Microcephaly	HP:0040284	ORPHA:243
9210	BMP15	HP:0000365	Hearing impairment	HP:0040283	ORPHA:243
9211	LGI1	HP:0001249	Intellectual disability	-	ORPHA:101046
9211	LGI1	HP:0008765	Auditory hallucination	HP:0040281	ORPHA:101046
9211	LGI1	HP:0410263	Brain imaging abnormality	-	ORPHA:101046
9211	LGI1	HP:0007359	Focal-onset seizure	HP:0040281	ORPHA:101046
9211	LGI1	HP:0007334	Bilateral tonic-clonic seizure with focal onset	12/18	OMIM:600512
9211	LGI1	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040284	ORPHA:101046
9211	LGI1	HP:0012005	Deja vu aura	1/11	OMIM:600512
9211	LGI1	HP:0000006	Autosomal dominant inheritance	-	OMIM:600512
9211	LGI1	HP:0002069	Bilateral tonic-clonic seizure	12/12	OMIM:600512
9211	LGI1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040284	ORPHA:101046
9211	LGI1	HP:0002076	Migraine	HP:0040284	ORPHA:101046
9211	LGI1	HP:0002197	Generalized-onset seizure	HP:0040284	ORPHA:101046
9211	LGI1	HP:0003596	Middle age onset	1/12	OMIM:600512
9211	LGI1	HP:0002266	Focal clonic seizure	1/11	OMIM:600512
9211	LGI1	HP:0100710	Impulsivity	HP:0040284	ORPHA:101046
9211	LGI1	HP:0002384	Focal impaired awareness seizure	6/18	OMIM:600512
9211	LGI1	HP:0002381	Aphasia	HP:0040282	ORPHA:101046
9211	LGI1	HP:0002367	Visual hallucination	HP:0040283	ORPHA:101046
9211	LGI1	HP:0002349	Focal aware seizure	15/30	OMIM:600512
9211	LGI1	HP:0002349	Focal aware seizure	HP:0040283	ORPHA:101046
9211	LGI1	HP:0003621	Juvenile onset	4/12	OMIM:600512
9211	LGI1	HP:0031951	Nocturnal seizures	HP:0040283	ORPHA:101046
9211	LGI1	HP:0000716	Depression	HP:0040284	ORPHA:101046
9211	LGI1	HP:0000708	Atypical behavior	HP:0040284	ORPHA:101046
9211	LGI1	HP:0011462	Young adult onset	7/12	OMIM:600512
9211	LGI1	HP:0032810	Focal sensory seizure with cephalic sensation	3/11	OMIM:600512
9211	LGI1	HP:0032864	Focal aware sensory seizure with auditory features	4/12	OMIM:600512
9211	LGI1	HP:0032759	Focal sensory seizure with vestibular features	1/11	OMIM:600512
9211	LGI1	HP:0032773	Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole	1/11	OMIM:600512
9211	LGI1	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101046
9211	LGI1	HP:0011185	EEG with focal epileptiform discharges	HP:0040281	ORPHA:101046
9211	LGI1	HP:0011182	Interictal epileptiform activity	HP:0040282	ORPHA:101046
9211	LGI1	HP:0011159	Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	4/11	OMIM:600512
9211	LGI1	HP:0011158	Focal sensory seizure with auditory features	13/29	OMIM:600512
9211	LGI1	HP:0011161	Focal sensory seizure with olfactory features	1/11	OMIM:600512
9211	LGI1	HP:0011165	Focal sensory seizure with visual features	2/11	OMIM:600512
9211	LGI1	HP:0011154	Focal autonomic seizure	HP:0040283	ORPHA:101046
9211	LGI1	HP:0032898	Focal automatism seizure	1/11	OMIM:600512
9213	XPR1	HP:0002461	Cerebellar dentate nucleus calcification	-	OMIM:213600
9213	XPR1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:1980
9213	XPR1	HP:0007256	Abnormal pyramidal sign	HP:0040283	OMIM:213600
9213	XPR1	HP:0002406	Limb dysmetria	-	OMIM:213600
9213	XPR1	HP:0001268	Mental deterioration	-	OMIM:213600
9213	XPR1	HP:0001288	Gait disturbance	-	OMIM:213600
9213	XPR1	HP:0001250	Seizure	HP:0040282	ORPHA:1980
9213	XPR1	HP:0001250	Seizure	2/8	OMIM:213600
9213	XPR1	HP:0001250	Seizure	HP:0040283	OMIM:616413
9213	XPR1	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:1980
9213	XPR1	HP:0001266	Choreoathetosis	-	OMIM:616413
9213	XPR1	HP:0001260	Dysarthria	1/8	OMIM:213600
9213	XPR1	HP:0001260	Dysarthria	-	OMIM:616413
9213	XPR1	HP:0001263	Global developmental delay	2/8	OMIM:213600
9213	XPR1	HP:0007352	Cerebellar calcifications	HP:0040283	ORPHA:1980
9213	XPR1	HP:0002504	Calcification of the small brain vessels	-	OMIM:213600
9213	XPR1	HP:0000020	Urinary incontinence	-	OMIM:213600
9213	XPR1	HP:0001350	Slurred speech	HP:0040283	ORPHA:1980
9213	XPR1	HP:0001347	Hyperreflexia	-	OMIM:213600
9213	XPR1	HP:0001332	Dystonia	HP:0040283	ORPHA:1980
9213	XPR1	HP:0001332	Dystonia	-	OMIM:213600
9213	XPR1	HP:0000012	Urinary urgency	HP:0040283	ORPHA:1980
9213	XPR1	HP:0001337	Tremor	HP:0040282	ORPHA:1980
9213	XPR1	HP:0001337	Tremor	-	OMIM:213600
9213	XPR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616413
9213	XPR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:213600
9213	XPR1	HP:0001300	Parkinsonism	1/8	OMIM:213600
9213	XPR1	HP:0001300	Parkinsonism	-	OMIM:616413
9213	XPR1	HP:0002015	Dysphagia	HP:0040283	ORPHA:1980
9213	XPR1	HP:0100543	Cognitive impairment	-	OMIM:616413
9213	XPR1	HP:0002067	Bradykinesia	HP:0040282	ORPHA:1980
9213	XPR1	HP:0002067	Bradykinesia	-	OMIM:213600
9213	XPR1	HP:0003394	Muscle spasm	HP:0040283	ORPHA:1980
9213	XPR1	HP:0002063	Rigidity	HP:0040282	ORPHA:1980
9213	XPR1	HP:0002063	Rigidity	-	OMIM:213600
9213	XPR1	HP:0002075	Dysdiadochokinesis	-	OMIM:213600
9213	XPR1	HP:0002072	Chorea	-	OMIM:213600
9213	XPR1	HP:0003388	Easy fatigability	HP:0040283	ORPHA:1980
9213	XPR1	HP:0002135	Basal ganglia calcification	15/15	OMIM:616413
9213	XPR1	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:1980
9213	XPR1	HP:0002135	Basal ganglia calcification	6/8	OMIM:213600
9213	XPR1	HP:0002172	Postural instability	-	OMIM:213600
9213	XPR1	HP:0003581	Adult onset	8/8	OMIM:213600
9213	XPR1	HP:0003581	Adult onset	-	OMIM:616413
9213	XPR1	HP:0002344	Progressive neurologic deterioration	HP:0040282	ORPHA:1980
9213	XPR1	HP:0003676	Progressive	-	OMIM:213600
9213	XPR1	HP:0003676	Progressive	-	OMIM:616413
9213	XPR1	HP:0002354	Memory impairment	HP:0040283	ORPHA:1980
9213	XPR1	HP:0002354	Memory impairment	-	OMIM:213600
9213	XPR1	HP:0002354	Memory impairment	-	OMIM:616413
9213	XPR1	HP:0002321	Vertigo	HP:0040282	ORPHA:1980
9213	XPR1	HP:0002317	Unsteady gait	HP:0040283	ORPHA:1980
9213	XPR1	HP:0002315	Headache	HP:0040282	ORPHA:1980
9213	XPR1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1980
9213	XPR1	HP:0007146	Bilateral basal ganglia lesions	HP:0040282	ORPHA:1980
9213	XPR1	HP:0032180	Abnormal circulating metabolite concentration	-	ORPHA:1980
9213	XPR1	HP:0002312	Clumsiness	HP:0040283	ORPHA:1980
9213	XPR1	HP:0002305	Athetosis	-	OMIM:213600
9213	XPR1	HP:0031814	Palilalia	-	OMIM:616413
9213	XPR1	HP:0004305	Involuntary movements	-	OMIM:616413
9213	XPR1	HP:0004305	Involuntary movements	HP:0040283	ORPHA:1980
9213	XPR1	HP:0031987	Diminished ability to concentrate	HP:0040283	ORPHA:1980
9213	XPR1	HP:0000802	Impotence	HP:0040283	ORPHA:1980
9213	XPR1	HP:0004363	Abnormal circulating calcium concentration	0/8	OMIM:213600
9213	XPR1	HP:0031908	Micrographia	-	OMIM:213600
9213	XPR1	HP:0000751	Personality changes	HP:0040282	ORPHA:1980
9213	XPR1	HP:0000739	Anxiety	HP:0040282	ORPHA:1980
9213	XPR1	HP:0000716	Depression	-	OMIM:213600
9213	XPR1	HP:0000716	Depression	-	OMIM:616413
9213	XPR1	HP:0000726	Dementia	HP:0040282	ORPHA:1980
9213	XPR1	HP:0000726	Dementia	-	OMIM:616413
9213	XPR1	HP:0000709	Psychosis	HP:0040282	ORPHA:1980
9213	XPR1	HP:0000709	Psychosis	-	OMIM:213600
9213	XPR1	HP:0011463	Childhood onset	2/8	OMIM:213600
9213	XPR1	HP:0011450	Unusual CNS infection	-	ORPHA:1980
9213	XPR1	HP:0000822	Hypertension	HP:0040283	ORPHA:1980
9213	XPR1	HP:0000298	Mask-like facies	HP:0040282	ORPHA:1980
9213	XPR1	HP:0000298	Mask-like facies	-	OMIM:213600
9215	LARGE1	HP:0002465	Poor speech	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0002438	Cerebellar malformation	-	OMIM:236670
9215	LARGE1	HP:0002435	Meningocele	HP:0040283	ORPHA:588
9215	LARGE1	HP:0001105	Retinal atrophy	-	OMIM:236670
9215	LARGE1	HP:0007260	Type II lissencephaly	-	OMIM:613154
9215	LARGE1	HP:0007260	Type II lissencephaly	31/31	OMIM:236670
9215	LARGE1	HP:0010864	Intellectual disability, severe	-	OMIM:236670
9215	LARGE1	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0008551	Microtia	-	OMIM:236670
9215	LARGE1	HP:0003701	Proximal muscle weakness	1/1	OMIM:608840
9215	LARGE1	HP:0003712	Skeletal muscle hypertrophy	1/1	OMIM:608840
9215	LARGE1	HP:0003712	Skeletal muscle hypertrophy	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0007291	Posterior fossa cyst	-	OMIM:236670
9215	LARGE1	HP:0001290	Generalized hypotonia	-	OMIM:608840
9215	LARGE1	HP:0001290	Generalized hypotonia	2/2	OMIM:613154
9215	LARGE1	HP:0001276	Hypertonia	HP:0040282	ORPHA:588
9215	LARGE1	HP:0001274	Agenesis of corpus callosum	-	OMIM:236670
9215	LARGE1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:899
9215	LARGE1	HP:0001270	Motor delay	HP:0040282	ORPHA:370968
9215	LARGE1	HP:0001270	Motor delay	-	OMIM:608840
9215	LARGE1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:588
9215	LARGE1	HP:0001284	Areflexia	HP:0040281	ORPHA:899
9215	LARGE1	HP:0001284	Areflexia	2/2	OMIM:613154
9215	LARGE1	HP:0001250	Seizure	HP:0040282	ORPHA:588
9215	LARGE1	HP:0001250	Seizure	2/2	OMIM:236670
9215	LARGE1	HP:0001250	Seizure	HP:0040283	ORPHA:899
9215	LARGE1	HP:0001252	Hypotonia	1/1	OMIM:608840
9215	LARGE1	HP:0001252	Hypotonia	HP:0040282	ORPHA:588
9215	LARGE1	HP:0001252	Hypotonia	-	OMIM:236670
9215	LARGE1	HP:0001252	Hypotonia	HP:0040281	ORPHA:899
9215	LARGE1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:370968
9215	LARGE1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:899
9215	LARGE1	HP:0001249	Intellectual disability	-	OMIM:613154
9215	LARGE1	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:899
9215	LARGE1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:370968
9215	LARGE1	HP:0001263	Global developmental delay	1/1	OMIM:608840
9215	LARGE1	HP:0001263	Global developmental delay	1/1	OMIM:236670
9215	LARGE1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:899
9215	LARGE1	HP:0001263	Global developmental delay	2/2	OMIM:613154
9215	LARGE1	HP:0001262	Excessive daytime somnolence	-	OMIM:236670
9215	LARGE1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:899
9215	LARGE1	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:588
9215	LARGE1	HP:0007361	Abnormal pons morphology	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0002536	Abnormal cortical gyration	HP:0040281	ORPHA:899
9215	LARGE1	HP:0002518	Abnormal periventricular white matter morphology	1/1	OMIM:608840
9215	LARGE1	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0001371	Flexion contracture	-	OMIM:613154
9215	LARGE1	HP:0025336	Delayed ability to sit	1/1	OMIM:608840
9215	LARGE1	HP:0000054	Micropenis	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0000050	Hypoplastic male external genitalia	-	OMIM:236670
9215	LARGE1	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:588
9215	LARGE1	HP:0000028	Cryptorchidism	1/1	OMIM:236670
9215	LARGE1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:899
9215	LARGE1	HP:0008872	Feeding difficulties in infancy	2/2	OMIM:236670
9215	LARGE1	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:899
9215	LARGE1	HP:0001328	Specific learning disability	HP:0040281	ORPHA:899
9215	LARGE1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:899
9215	LARGE1	HP:0001344	Absent speech	1/1	OMIM:236670
9215	LARGE1	HP:0001339	Lissencephaly	HP:0040281	ORPHA:899
9215	LARGE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608840
9215	LARGE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613154
9215	LARGE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:236670
9215	LARGE1	HP:0001335	Bimanual synkinesia	1/1	OMIM:608840
9215	LARGE1	HP:0001305	Dandy-Walker malformation	2/2	OMIM:236670
9215	LARGE1	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:899
9215	LARGE1	HP:0001305	Dandy-Walker malformation	1/2	OMIM:613154
9215	LARGE1	HP:0001302	Pachygyria	-	OMIM:236670
9215	LARGE1	HP:0001302	Pachygyria	HP:0040281	ORPHA:899
9215	LARGE1	HP:0001302	Pachygyria	1/1	OMIM:608840
9215	LARGE1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0002650	Scoliosis	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:236670
9215	LARGE1	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:899
9215	LARGE1	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0001321	Cerebellar hypoplasia	-	OMIM:608840
9215	LARGE1	HP:0001321	Cerebellar hypoplasia	1/2	OMIM:613154
9215	LARGE1	HP:0001319	Neonatal hypotonia	1/1	OMIM:236670
9215	LARGE1	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:899
9215	LARGE1	HP:0000158	Macroglossia	0/1	OMIM:608840
9215	LARGE1	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:899
9215	LARGE1	HP:0000175	Cleft palate	-	OMIM:236670
9215	LARGE1	HP:0000175	Cleft palate	HP:0040283	ORPHA:899
9215	LARGE1	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/2	OMIM:613154
9215	LARGE1	HP:0008981	Calf muscle hypertrophy	1/1	OMIM:608840
9215	LARGE1	HP:0008981	Calf muscle hypertrophy	HP:0040282	ORPHA:370968
9215	LARGE1	HP:0008947	Floppy infant	HP:0040281	ORPHA:370968
9215	LARGE1	HP:0012110	Hypoplasia of the pons	-	OMIM:613154
9215	LARGE1	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	HP:0040281	ORPHA:899
9215	LARGE1	HP:0000110	Renal dysplasia	-	OMIM:236670
9215	LARGE1	HP:0002023	Anal atresia	-	OMIM:236670
9215	LARGE1	HP:0003327	Axial muscle weakness	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:370968
9215	LARGE1	HP:0004637	Decreased cervical spine mobility	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0002085	Occipital encephalocele	-	OMIM:236670
9215	LARGE1	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:588
9215	LARGE1	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:236670
9215	LARGE1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0009473	Joint contracture of the hand	-	OMIM:608840
9215	LARGE1	HP:0003487	Babinski sign	1/1	OMIM:608840
9215	LARGE1	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:370968
9215	LARGE1	HP:0002119	Ventriculomegaly	-	OMIM:236670
9215	LARGE1	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:899
9215	LARGE1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0002119	Ventriculomegaly	-	OMIM:613154
9215	LARGE1	HP:0003457	EMG abnormality	HP:0040281	ORPHA:588
9215	LARGE1	HP:0002126	Polymicrogyria	-	OMIM:236670
9215	LARGE1	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:899
9215	LARGE1	HP:0003458	EMG: myopathic abnormalities	-	OMIM:608840
9215	LARGE1	HP:0002187	Intellectual disability, profound	-	OMIM:236670
9215	LARGE1	HP:0002187	Intellectual disability, profound	1/1	OMIM:608840
9215	LARGE1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:588
9215	LARGE1	HP:0010508	Metatarsus valgus	HP:0040281	ORPHA:899
9215	LARGE1	HP:0003593	Infantile onset	1/1	OMIM:608840
9215	LARGE1	HP:0002269	Abnormality of neuronal migration	1/1	OMIM:608840
9215	LARGE1	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:899
9215	LARGE1	HP:0003577	Congenital onset	2/2	OMIM:236670
9215	LARGE1	HP:0003577	Congenital onset	2/2	OMIM:613154
9215	LARGE1	HP:0003549	Abnormality of connective tissue	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0003560	Muscular dystrophy	-	OMIM:236670
9215	LARGE1	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:899
9215	LARGE1	HP:0003560	Muscular dystrophy	-	OMIM:608840
9215	LARGE1	HP:0003560	Muscular dystrophy	-	OMIM:613154
9215	LARGE1	HP:0007033	Cerebellar dysplasia	-	OMIM:236670
9215	LARGE1	HP:0007015	Poor gross motor coordination	HP:0040282	ORPHA:370968
9215	LARGE1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:370968
9215	LARGE1	HP:0010628	Facial palsy	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0010628	Facial palsy	-	OMIM:608840
9215	LARGE1	HP:0007082	Dilated third ventricle	1/2	OMIM:613154
9215	LARGE1	HP:0007063	Aplasia of the inferior half of the cerebellar vermis	2/2	OMIM:613154
9215	LARGE1	HP:0002395	Lower limb hyperreflexia	1/1	OMIM:608840
9215	LARGE1	HP:0002365	Hypoplasia of the brainstem	1/1	OMIM:236670
9215	LARGE1	HP:0002365	Hypoplasia of the brainstem	-	OMIM:608840
9215	LARGE1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:588
9215	LARGE1	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040281	ORPHA:899
9215	LARGE1	HP:0008443	Neuropathic spinal arthropathy	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0006829	Severe muscular hypotonia	-	OMIM:236670
9215	LARGE1	HP:0006829	Severe muscular hypotonia	-	OMIM:613154
9215	LARGE1	HP:0031882	Agyria	2/2	OMIM:236670
9215	LARGE1	HP:0006888	Meningoencephalocele	1/1	OMIM:236670
9215	LARGE1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:588
9215	LARGE1	HP:0000648	Optic atrophy	1/2	OMIM:236670
9215	LARGE1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:899
9215	LARGE1	HP:0000648	Optic atrophy	1/2	OMIM:613154
9215	LARGE1	HP:0000618	Blindness	-	OMIM:236670
9215	LARGE1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:899
9215	LARGE1	HP:0000609	Optic nerve hypoplasia	-	OMIM:236670
9215	LARGE1	HP:0000659	Peters anomaly	-	OMIM:236670
9215	LARGE1	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	1/1	OMIM:608840
9215	LARGE1	HP:0000666	Horizontal nystagmus	1/1	OMIM:608840
9215	LARGE1	HP:0004322	Short stature	-	OMIM:608840
9215	LARGE1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/2	OMIM:613154
9215	LARGE1	HP:0006956	Lateral ventricle dilatation	1/2	OMIM:613154
9215	LARGE1	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:588
9215	LARGE1	HP:0031936	Delayed ability to walk	1/1	OMIM:608840
9215	LARGE1	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:588
9215	LARGE1	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0011484	Posterior synechiae of the anterior chamber	1/2	OMIM:613154
9215	LARGE1	HP:0012793	Kinked brainstem	1/2	OMIM:236670
9215	LARGE1	HP:0003198	Myopathy	HP:0040281	ORPHA:588
9215	LARGE1	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040281	ORPHA:899
9215	LARGE1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:588
9215	LARGE1	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:236670
9215	LARGE1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:370968
9215	LARGE1	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:608840
9215	LARGE1	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:613154
9215	LARGE1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:899
9215	LARGE1	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040281	ORPHA:899
9215	LARGE1	HP:0008081	Pes valgus	1/2	OMIM:613154
9215	LARGE1	HP:0040173	Abnormality of the tongue muscle	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0100297	Increased endomysial connective tissue	1/2	OMIM:613154
9215	LARGE1	HP:0000298	Mask-like facies	1/1	OMIM:236670
9215	LARGE1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:899
9215	LARGE1	HP:0007731	Chorioretinal dysplasia	HP:0040281	ORPHA:899
9215	LARGE1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:370968
9215	LARGE1	HP:0002803	Congenital contracture	-	OMIM:236670
9215	LARGE1	HP:0030099	Reduced muscle fiber alpha dystroglycan	HP:0040281	ORPHA:370968
9215	LARGE1	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:588
9215	LARGE1	HP:0000238	Hydrocephalus	1/2	OMIM:236670
9215	LARGE1	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:899
9215	LARGE1	HP:0000238	Hydrocephalus	1/2	OMIM:613154
9215	LARGE1	HP:0000252	Microcephaly	HP:0040282	ORPHA:370968
9215	LARGE1	HP:0000252	Microcephaly	1/2	OMIM:236670
9215	LARGE1	HP:0000252	Microcephaly	HP:0040283	ORPHA:899
9215	LARGE1	HP:0002878	Respiratory failure	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0000204	Cleft upper lip	-	OMIM:236670
9215	LARGE1	HP:0030046	Hypoglycosylation of alpha-dystroglycan	HP:0040281	ORPHA:370968
9215	LARGE1	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:588
9215	LARGE1	HP:0030197	Fatigable weakness of skeletal muscles	HP:0040282	ORPHA:370968
9215	LARGE1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:899
9215	LARGE1	HP:0000369	Low-set ears	1/2	OMIM:236670
9215	LARGE1	HP:0000369	Low-set ears	HP:0040283	ORPHA:899
9215	LARGE1	HP:0000340	Sloping forehead	1/2	OMIM:236670
9215	LARGE1	HP:0000347	Micrognathia	1/2	OMIM:236670
9215	LARGE1	HP:0002987	Elbow flexion contracture	1/1	OMIM:608840
9215	LARGE1	HP:0007957	Corneal opacity	1/1	OMIM:236670
9215	LARGE1	HP:0007957	Corneal opacity	HP:0040282	ORPHA:899
9215	LARGE1	HP:0007973	Retinal dysplasia	1/2	OMIM:613154
9215	LARGE1	HP:0007973	Retinal dysplasia	2/2	OMIM:236670
9215	LARGE1	HP:0007973	Retinal dysplasia	HP:0040281	ORPHA:899
9215	LARGE1	HP:0000486	Strabismus	HP:0040281	ORPHA:588
9215	LARGE1	HP:0000486	Strabismus	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0000485	Megalocornea	-	OMIM:236670
9215	LARGE1	HP:0000482	Microcornea	HP:0040283	ORPHA:899
9215	LARGE1	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0001771	Achilles tendon contracture	1/1	OMIM:608840
9215	LARGE1	HP:0012400	Abnormal circulating aldolase concentration	HP:0040281	ORPHA:899
9215	LARGE1	HP:0000411	Protruding ear	HP:0040283	ORPHA:899
9215	LARGE1	HP:0000413	Atresia of the external auditory canal	-	OMIM:236670
9215	LARGE1	HP:0000518	Cataract	HP:0040282	ORPHA:588
9215	LARGE1	HP:0000518	Cataract	-	OMIM:236670
9215	LARGE1	HP:0000518	Cataract	HP:0040283	ORPHA:899
9215	LARGE1	HP:0000519	Developmental cataract	1/2	OMIM:613154
9215	LARGE1	HP:0000528	Anophthalmia	HP:0040282	ORPHA:899
9215	LARGE1	HP:0000505	Visual impairment	HP:0040281	ORPHA:588
9215	LARGE1	HP:0000501	Glaucoma	HP:0040281	ORPHA:588
9215	LARGE1	HP:0000501	Glaucoma	-	OMIM:236670
9215	LARGE1	HP:0000501	Glaucoma	HP:0040282	ORPHA:899
9215	LARGE1	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:370968
9215	LARGE1	HP:0000580	Pigmentary retinopathy	1/2	OMIM:613154
9215	LARGE1	HP:0000587	Abnormal optic nerve morphology	HP:0040281	ORPHA:899
9215	LARGE1	HP:0000589	Coloboma	-	OMIM:236670
9215	LARGE1	HP:0000557	Buphthalmos	-	OMIM:236670
9215	LARGE1	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:899
9215	LARGE1	HP:0000568	Microphthalmia	1/1	OMIM:236670
9215	LARGE1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:899
9215	LARGE1	HP:0000541	Retinal detachment	-	OMIM:236670
9215	LARGE1	HP:0000541	Retinal detachment	HP:0040281	ORPHA:899
9215	LARGE1	HP:0000545	Myopia	HP:0040281	ORPHA:588
9215	LARGE1	HP:0000545	Myopia	-	OMIM:236670
9215	LARGE1	HP:0000545	Myopia	HP:0040283	ORPHA:370968
9217	VAPB	HP:0002486	Myotonia	HP:0040283	ORPHA:209335
9217	VAPB	HP:0002483	Bulbar signs	-	ORPHA:209335
9217	VAPB	HP:0002483	Bulbar signs	12/16	OMIM:608627
9217	VAPB	HP:0002463	Language impairment	HP:0040283	ORPHA:803
9217	VAPB	HP:0002460	Distal muscle weakness	1/8	OMIM:182980
9217	VAPB	HP:0002460	Distal muscle weakness	9/16	OMIM:608627
9217	VAPB	HP:0007269	Spinal muscular atrophy	-	OMIM:182980
9217	VAPB	HP:0007256	Abnormal pyramidal sign	5/16	OMIM:608627
9217	VAPB	HP:0003701	Proximal muscle weakness	7/8	OMIM:182980
9217	VAPB	HP:0003701	Proximal muscle weakness	13/16	OMIM:608627
9217	VAPB	HP:0001284	Areflexia	HP:0040282	ORPHA:209335
9217	VAPB	HP:0001284	Areflexia	-	OMIM:608627
9217	VAPB	HP:0001265	Hyporeflexia	8/8	OMIM:182980
9217	VAPB	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
9217	VAPB	HP:0001260	Dysarthria	-	OMIM:608627
9217	VAPB	HP:0001257	Spasticity	HP:0040282	ORPHA:803
9217	VAPB	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
9217	VAPB	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
9217	VAPB	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:608627
9217	VAPB	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:209335
9217	VAPB	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
9217	VAPB	HP:0002515	Waddling gait	HP:0040283	ORPHA:209335
9217	VAPB	HP:0002529	Neuronal loss in central nervous system	-	OMIM:608627
9217	VAPB	HP:0002505	Loss of ambulation	HP:0040282	ORPHA:209335
9217	VAPB	HP:0002505	Loss of ambulation	5/16	OMIM:608627
9217	VAPB	HP:0002505	Loss of ambulation	1/8	OMIM:182980
9217	VAPB	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
9217	VAPB	HP:0001387	Joint stiffness	HP:0040283	ORPHA:209335
9217	VAPB	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
9217	VAPB	HP:0001337	Tremor	HP:0040283	ORPHA:209335
9217	VAPB	HP:0001337	Tremor	1/8	OMIM:182980
9217	VAPB	HP:0000006	Autosomal dominant inheritance	-	OMIM:608627
9217	VAPB	HP:0000006	Autosomal dominant inheritance	-	OMIM:182980
9217	VAPB	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
9217	VAPB	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
9217	VAPB	HP:0008981	Calf muscle hypertrophy	HP:0040283	ORPHA:209335
9217	VAPB	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
9217	VAPB	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
9217	VAPB	HP:0002015	Dysphagia	11/16	OMIM:608627
9217	VAPB	HP:0003323	Progressive muscle weakness	-	OMIM:608627
9217	VAPB	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
9217	VAPB	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
9217	VAPB	HP:0100543	Cognitive impairment	0/16	OMIM:608627
9217	VAPB	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
9217	VAPB	HP:0003394	Muscle spasm	HP:0040282	ORPHA:209335
9217	VAPB	HP:0003394	Muscle spasm	15/16	OMIM:608627
9217	VAPB	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
9217	VAPB	HP:0003394	Muscle spasm	7/8	OMIM:182980
9217	VAPB	HP:0002062	Abnormal pyramidal tract morphology	-	OMIM:608627
9217	VAPB	HP:0003391	Gowers sign	HP:0040282	ORPHA:209335
9217	VAPB	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
9217	VAPB	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
9217	VAPB	HP:0003470	Paralysis	HP:0040282	ORPHA:803
9217	VAPB	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
9217	VAPB	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
9217	VAPB	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:209335
9217	VAPB	HP:0003445	EMG: neuropathic changes	HP:0040282	ORPHA:209335
9217	VAPB	HP:0003445	EMG: neuropathic changes	-	OMIM:182980
9217	VAPB	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
9217	VAPB	HP:0002174	Postural tremor	16/16	OMIM:608627
9217	VAPB	HP:0003596	Middle age onset	7/8	OMIM:182980
9217	VAPB	HP:0003596	Middle age onset	8/16	OMIM:608627
9217	VAPB	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:209335
9217	VAPB	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
9217	VAPB	HP:0002380	Fasciculations	HP:0040282	ORPHA:209335
9217	VAPB	HP:0002380	Fasciculations	15/16	OMIM:608627
9217	VAPB	HP:0002380	Fasciculations	8/8	OMIM:182980
9217	VAPB	HP:0002362	Shuffling gait	HP:0040283	ORPHA:209335
9217	VAPB	HP:0003693	Distal amyotrophy	7/16	OMIM:608627
9217	VAPB	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
9217	VAPB	HP:0003693	Distal amyotrophy	1/8	OMIM:182980
9217	VAPB	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
9217	VAPB	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
9217	VAPB	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:209335
9217	VAPB	HP:0007126	Proximal amyotrophy	10/16	OMIM:608627
9217	VAPB	HP:0007126	Proximal amyotrophy	6/8	OMIM:182980
9217	VAPB	HP:0002307	Drooling	HP:0040282	ORPHA:803
9217	VAPB	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
9217	VAPB	HP:0004326	Cachexia	HP:0040283	ORPHA:803
9217	VAPB	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
9217	VAPB	HP:0000739	Anxiety	HP:0040282	ORPHA:803
9217	VAPB	HP:0000716	Depression	HP:0040282	ORPHA:803
9217	VAPB	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
9217	VAPB	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
9217	VAPB	HP:0011462	Young adult onset	8/16	OMIM:608627
9217	VAPB	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
9217	VAPB	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:209335
9217	VAPB	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
9217	VAPB	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
9217	VAPB	HP:0003202	Skeletal muscle atrophy	-	OMIM:608627
9217	VAPB	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
9217	VAPB	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
9217	VAPB	HP:0012378	Fatigue	HP:0040282	ORPHA:209335
9217	VAPB	HP:0012378	Fatigue	HP:0040282	ORPHA:803
9217	VAPB	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
9217	VAPB	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
9217	VAPB	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
9217	VAPB	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
9217	VAPB	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
9217	VAPB	HP:0025710	Late young adult onset	1/8	OMIM:182980
9217	VAPB	HP:0001824	Weight loss	HP:0040282	ORPHA:803
9217	VAPB	HP:0012531	Pain	HP:0040282	ORPHA:803
9217	VAPB	HP:0001883	Talipes	HP:0040283	ORPHA:209335
9227	LRAT	HP:0001133	Constriction of peripheral visual field	-	OMIM:268000
9227	LRAT	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
9227	LRAT	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
9227	LRAT	HP:0001103	Abnormal macular morphology	HP:0040282	ORPHA:364055
9227	LRAT	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
9227	LRAT	HP:0001116	Macular coloboma	HP:0040283	ORPHA:364055
9227	LRAT	HP:0001270	Motor delay	HP:0040283	ORPHA:65
9227	LRAT	HP:0001250	Seizure	HP:0040282	ORPHA:65
9227	LRAT	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
9227	LRAT	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
9227	LRAT	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
9227	LRAT	HP:0002527	Falls	-	OMIM:613341
9227	LRAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:613341
9227	LRAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
9227	LRAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:268000
9227	LRAT	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
9227	LRAT	HP:0000006	Autosomal dominant inheritance	-	OMIM:268000
9227	LRAT	HP:0001483	Eye poking	HP:0040282	ORPHA:65
9227	LRAT	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
9227	LRAT	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
9227	LRAT	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
9227	LRAT	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
9227	LRAT	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:364055
9227	LRAT	HP:0007663	Reduced visual acuity	-	OMIM:613341
9227	LRAT	HP:0001419	X-linked recessive inheritance	-	OMIM:268000
9227	LRAT	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
9227	LRAT	HP:0002172	Postural instability	HP:0040283	ORPHA:364055
9227	LRAT	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
9227	LRAT	HP:0002317	Unsteady gait	HP:0040283	ORPHA:364055
9227	LRAT	HP:0003621	Juvenile onset	8/19	OMIM:180100
9227	LRAT	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
9227	LRAT	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
9227	LRAT	HP:0000639	Nystagmus	HP:0040282	ORPHA:364055
9227	LRAT	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
9227	LRAT	HP:0000639	Nystagmus	-	OMIM:613341
9227	LRAT	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
9227	LRAT	HP:0000618	Blindness	HP:0040281	ORPHA:791
9227	LRAT	HP:0000613	Photophobia	HP:0040282	ORPHA:65
9227	LRAT	HP:0000613	Photophobia	HP:0040281	ORPHA:791
9227	LRAT	HP:0000613	Photophobia	HP:0040283	ORPHA:364055
9227	LRAT	HP:0000613	Photophobia	-	OMIM:613341
9227	LRAT	HP:0000622	Blurred vision	HP:0040283	ORPHA:364055
9227	LRAT	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
9227	LRAT	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
9227	LRAT	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
9227	LRAT	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
9227	LRAT	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:364055
9227	LRAT	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
9227	LRAT	HP:0000662	Nyctalopia	-	OMIM:268000
9227	LRAT	HP:0000662	Nyctalopia	HP:0040282	ORPHA:364055
9227	LRAT	HP:0000662	Nyctalopia	-	OMIM:613341
9227	LRAT	HP:0000662	Nyctalopia	26/28	OMIM:180100
9227	LRAT	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	-	OMIM:613341
9227	LRAT	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
9227	LRAT	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
9227	LRAT	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
9227	LRAT	HP:0011488	Abnormal corneal endothelium morphology	HP:0040283	ORPHA:364055
9227	LRAT	HP:0011484	Posterior synechiae of the anterior chamber	HP:0040283	ORPHA:364055
9227	LRAT	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
9227	LRAT	HP:0011463	Childhood onset	3/19	OMIM:180100
9227	LRAT	HP:0011462	Young adult onset	8/19	OMIM:180100
9227	LRAT	HP:0030786	Photopsia	HP:0040283	ORPHA:791
9227	LRAT	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
9227	LRAT	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
9227	LRAT	HP:0000980	Pallor	-	OMIM:613341
9227	LRAT	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
9227	LRAT	HP:0007722	Retinal pigment epithelial atrophy	HP:0040283	ORPHA:364055
9227	LRAT	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
9227	LRAT	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
9227	LRAT	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:364055
9227	LRAT	HP:0007793	Granular macular appearance	HP:0040283	ORPHA:364055
9227	LRAT	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
9227	LRAT	HP:0007787	Posterior subcapsular cataract	HP:0040283	ORPHA:364055
9227	LRAT	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
9227	LRAT	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
9227	LRAT	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:364055
9227	LRAT	HP:0007695	Abnormal pupillary light reflex	HP:0040282	ORPHA:364055
9227	LRAT	HP:0012230	Rhegmatogenous retinal detachment	HP:0040284	ORPHA:364055
9227	LRAT	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
9227	LRAT	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:364055
9227	LRAT	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
9227	LRAT	HP:0007814	Retinal pigment epithelial mottling	HP:0040282	ORPHA:364055
9227	LRAT	HP:0007875	Congenital blindness	-	OMIM:613341
9227	LRAT	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
9227	LRAT	HP:0031605	Abnormality of fundus pigmentation	-	OMIM:268000
9227	LRAT	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
9227	LRAT	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:364055
9227	LRAT	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
9227	LRAT	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
9227	LRAT	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
9227	LRAT	HP:0012434	Delayed early-childhood social milestone development	HP:0040283	ORPHA:364055
9227	LRAT	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
9227	LRAT	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:364055
9227	LRAT	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
9227	LRAT	HP:0000518	Cataract	HP:0040282	ORPHA:65
9227	LRAT	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
9227	LRAT	HP:0000510	Rod-cone dystrophy	20/20	OMIM:268000
9227	LRAT	HP:0000510	Rod-cone dystrophy	-	OMIM:613341
9227	LRAT	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
9227	LRAT	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
9227	LRAT	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
9227	LRAT	HP:0000505	Visual impairment	HP:0040282	ORPHA:364055
9227	LRAT	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
9227	LRAT	HP:0000575	Scotoma	5/18	OMIM:180100
9227	LRAT	HP:0000577	Exotropia	HP:0040283	ORPHA:364055
9227	LRAT	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
9227	LRAT	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
9227	LRAT	HP:0000556	Retinal dystrophy	-	OMIM:613341
9227	LRAT	HP:0000541	Retinal detachment	HP:0040283	ORPHA:364055
9227	LRAT	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
9227	LRAT	HP:0000533	Chorioretinal atrophy	HP:0040283	ORPHA:364055
9227	LRAT	HP:0000550	Undetectable electroretinogram	HP:0040282	ORPHA:364055
9227	LRAT	HP:0000550	Undetectable electroretinogram	-	OMIM:613341
9227	LRAT	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
9227	LRAT	HP:0000551	Color vision defect	HP:0040282	ORPHA:364055
9227	LRAT	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
9227	LRAT	HP:0000546	Retinal degeneration	HP:0040282	ORPHA:364055
9227	LRAT	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
9227	LRAT	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:364055
9227	LRAT	HP:0000543	Optic disc pallor	-	OMIM:613341
9227	LRAT	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
9227	LRAT	HP:0000543	Optic disc pallor	1/1	OMIM:180100
9227	LRAT	HP:0000545	Myopia	-	OMIM:180100
9227	LRAT	HP:0000545	Myopia	HP:0040283	ORPHA:364055
9230	RAB11B	HP:0001182	Tapered finger	5/5	OMIM:617807
9230	RAB11B	HP:0001288	Gait disturbance	3/3	OMIM:617807
9230	RAB11B	HP:0001252	Hypotonia	4/5	OMIM:617807
9230	RAB11B	HP:0001249	Intellectual disability	5/5	OMIM:617807
9230	RAB11B	HP:0001263	Global developmental delay	5/5	OMIM:617807
9230	RAB11B	HP:0001257	Spasticity	2/4	OMIM:617807
9230	RAB11B	HP:0001385	Hip dysplasia	4/5	OMIM:617807
9230	RAB11B	HP:0001332	Dystonia	2/4	OMIM:617807
9230	RAB11B	HP:0033725	Thin corpus callosum	4/4	OMIM:617807
9230	RAB11B	HP:0001344	Absent speech	5/5	OMIM:617807
9230	RAB11B	HP:0000006	Autosomal dominant inheritance	-	OMIM:617807
9230	RAB11B	HP:0001320	Cerebellar vermis hypoplasia	4/4	OMIM:617807
9230	RAB11B	HP:0002066	Gait ataxia	2/3	OMIM:617807
9230	RAB11B	HP:0002119	Ventriculomegaly	5/5	OMIM:617807
9230	RAB11B	HP:0002136	Broad-based gait	3/3	OMIM:617807
9230	RAB11B	HP:0002188	Delayed CNS myelination	1/5	OMIM:617807
9230	RAB11B	HP:0002197	Generalized-onset seizure	3/5	OMIM:617807
9230	RAB11B	HP:0002194	Delayed gross motor development	5/5	OMIM:617807
9230	RAB11B	HP:0003593	Infantile onset	5/5	OMIM:617807
9230	RAB11B	HP:0011968	Feeding difficulties	1/5	OMIM:617807
9230	RAB11B	HP:0002365	Hypoplasia of the brainstem	3/3	OMIM:617807
9230	RAB11B	HP:0010804	Tented upper lip vermilion	1/5	OMIM:617807
9230	RAB11B	HP:0002307	Drooling	1/5	OMIM:617807
9230	RAB11B	HP:0004209	Clinodactyly of the 5th finger	1/5	OMIM:617807
9230	RAB11B	HP:0000639	Nystagmus	2/3	OMIM:617807
9230	RAB11B	HP:0000648	Optic atrophy	1/5	OMIM:617807
9230	RAB11B	HP:0031936	Delayed ability to walk	4/4	OMIM:617807
9230	RAB11B	HP:0000733	Motor stereotypy	2/5	OMIM:617807
9230	RAB11B	HP:0034295	Reduced cerebral white matter volume	5/5	OMIM:617807
9230	RAB11B	HP:0000817	Reduced eye contact	1/5	OMIM:617807
9230	RAB11B	HP:0040082	Happy demeanor	1/5	OMIM:617807
9230	RAB11B	HP:0000954	Single transverse palmar crease	2/5	OMIM:617807
9230	RAB11B	HP:0000297	Facial hypotonia	1/5	OMIM:617807
9230	RAB11B	HP:0000252	Microcephaly	4/5	OMIM:617807
9230	RAB11B	HP:0002870	Obstructive sleep apnea	1/5	OMIM:617807
9230	RAB11B	HP:0000395	Prominent antihelix	1/5	OMIM:617807
9230	RAB11B	HP:0000486	Strabismus	2/4	OMIM:617807
9230	RAB11B	HP:0001776	Bilateral talipes equinovarus	1/5	OMIM:617807
9230	RAB11B	HP:0001761	Pes cavus	1/5	OMIM:617807
9230	RAB11B	HP:0001845	Overlapping toe	1/5	OMIM:617807
9230	RAB11B	HP:0000505	Visual impairment	1/5	OMIM:617807
9230	RAB11B	HP:0000582	Upslanted palpebral fissure	1/5	OMIM:617807
9230	RAB11B	HP:0000540	Hypermetropia	2/5	OMIM:617807
9231	DLG5	HP:0001171	Split hand	1/2	OMIM:620703
9231	DLG5	HP:0001169	Broad palm	1/2	OMIM:620703
9231	DLG5	HP:0010953	Noncommunicating hydrocephalus	1/2	OMIM:620703
9231	DLG5	HP:0001263	Global developmental delay	1/1	OMIM:620703
9231	DLG5	HP:0001332	Dystonia	1/1	OMIM:620703
9231	DLG5	HP:0000007	Autosomal recessive inheritance	-	OMIM:620703
9231	DLG5	HP:0001334	Communicating hydrocephalus	1/2	OMIM:620703
9231	DLG5	HP:0000003	Multicystic kidney dysplasia	1/2	OMIM:620703
9231	DLG5	HP:0000175	Cleft palate	2/2	OMIM:620703
9231	DLG5	HP:0410030	Cleft lip	2/2	OMIM:620703
9231	DLG5	HP:0000127	Renal salt wasting	1/1	OMIM:620703
9231	DLG5	HP:0000126	Hydronephrosis	1/2	OMIM:620703
9231	DLG5	HP:0033132	Renal cortical hyperechogenicity	1/2	OMIM:620703
9231	DLG5	HP:0009473	Joint contracture of the hand	1/2	OMIM:620703
9231	DLG5	HP:0003577	Congenital onset	1/1	OMIM:620703
9231	DLG5	HP:0030674	Antenatal onset	1/1	OMIM:620703
9231	DLG5	HP:0000280	Coarse facial features	1/1	OMIM:620703
9231	DLG5	HP:0001629	Ventricular septal defect	1/2	OMIM:620703
9231	DLG5	HP:0001631	Atrial septal defect	1/2	OMIM:620703
9231	DLG5	HP:0001769	Broad foot	1/2	OMIM:620703
9241	NOG	HP:0001156	Brachydactyly	HP:0040282	ORPHA:3250
9241	NOG	HP:0001156	Brachydactyly	-	OMIM:186570
9241	NOG	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3237
9241	NOG	HP:0001156	Brachydactyly	-	OMIM:186500
9241	NOG	HP:0008607	Progressive conductive hearing impairment	-	OMIM:186500
9241	NOG	HP:0009941	Asymmetry of the mouth	1/5	OMIM:186500
9241	NOG	HP:0009882	Short distal phalanx of finger	HP:0040282	OMIM:184460
9241	NOG	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:140908
9241	NOG	HP:0009882	Short distal phalanx of finger	-	OMIM:611377
9241	NOG	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9241	NOG	HP:0001293	Cranial nerve compression	-	OMIM:131300
9241	NOG	HP:0001252	Hypotonia	2/7	OMIM:615777
9241	NOG	HP:0001249	Intellectual disability	5/7	OMIM:615777
9241	NOG	HP:0001263	Global developmental delay	-	OMIM:615777
9241	NOG	HP:0006109	Absent phalangeal crease	HP:0040282	OMIM:611377
9241	NOG	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:3250
9241	NOG	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:140908
9241	NOG	HP:0006077	Absent proximal finger flexion creases	2/5	OMIM:186500
9241	NOG	HP:0001204	Distal symphalangism of hands	5/5	OMIM:611377
9241	NOG	HP:0001204	Distal symphalangism of hands	HP:0040283	OMIM:186570
9241	NOG	HP:0001204	Distal symphalangism of hands	HP:0040283	OMIM:185800
9241	NOG	HP:0002515	Waddling gait	54/102	OMIM:131300
9241	NOG	HP:0002515	Waddling gait	1/5	OMIM:186500
9241	NOG	HP:0001387	Joint stiffness	HP:0040281	ORPHA:3237
9241	NOG	HP:0001382	Joint hypermobility	-	OMIM:615777
9241	NOG	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9241	NOG	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9241	NOG	HP:0006152	Proximal symphalangism of hands	16/16	OMIM:611377
9241	NOG	HP:0006152	Proximal symphalangism of hands	HP:0040282	OMIM:186570
9241	NOG	HP:0006152	Proximal symphalangism of hands	2/2	OMIM:185800
9241	NOG	HP:0006147	Progressive fusion 2nd-5th pip joints	-	OMIM:186570
9241	NOG	HP:0000002	Abnormality of body height	0/20	OMIM:186570
9241	NOG	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9241	NOG	HP:0001324	Muscle weakness	40/96	OMIM:131300
9241	NOG	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9241	NOG	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9241	NOG	HP:0000006	Autosomal dominant inheritance	-	OMIM:185800
9241	NOG	HP:0000006	Autosomal dominant inheritance	-	OMIM:611377
9241	NOG	HP:0000006	Autosomal dominant inheritance	-	OMIM:184460
9241	NOG	HP:0000006	Autosomal dominant inheritance	-	OMIM:186570
9241	NOG	HP:0000006	Autosomal dominant inheritance	-	OMIM:186500
9241	NOG	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9241	NOG	HP:0002650	Scoliosis	12/14	OMIM:131300
9241	NOG	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9241	NOG	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9241	NOG	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9241	NOG	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9241	NOG	HP:0000175	Cleft palate	2/7	OMIM:615777
9241	NOG	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:3237
9241	NOG	HP:0004691	2-3 toe syndactyly	-	OMIM:186500
9241	NOG	HP:0003388	Easy fatigability	36/76	OMIM:131300
9241	NOG	HP:0009466	Radial deviation of finger	HP:0040282	OMIM:186570
9241	NOG	HP:0009466	Radial deviation of finger	-	OMIM:186500
9241	NOG	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9241	NOG	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:3250
9241	NOG	HP:0009477	Proximal/middle symphalangism of 4th finger	2/5	OMIM:186500
9241	NOG	HP:0003416	Spinal canal stenosis	-	OMIM:186500
9241	NOG	HP:0009623	Proximal placement of thumb	HP:0040282	OMIM:611377
9241	NOG	HP:0011918	Clinodactyly of the 4th toe	1/5	OMIM:186500
9241	NOG	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:3250
9241	NOG	HP:0010554	Cutaneous finger syndactyly	HP:0040282	OMIM:611377
9241	NOG	HP:0010554	Cutaneous finger syndactyly	-	OMIM:186500
9241	NOG	HP:0100482	Proximal/middle symphalangism of 5th toe	1/5	OMIM:186500
9241	NOG	HP:0100481	Proximal/middle symphalangism of 4th toe	1/5	OMIM:186500
9241	NOG	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:3237
9241	NOG	HP:0003577	Congenital onset	-	OMIM:186570
9241	NOG	HP:0009702	Carpal synostosis	HP:0040282	OMIM:186570
9241	NOG	HP:0009702	Carpal synostosis	10/10	OMIM:611377
9241	NOG	HP:0009702	Carpal synostosis	-	OMIM:186500
9241	NOG	HP:0009702	Carpal synostosis	HP:0040282	OMIM:185800
9241	NOG	HP:0008368	Tarsal synostosis	HP:0040282	OMIM:186570
9241	NOG	HP:0008368	Tarsal synostosis	HP:0040282	OMIM:611377
9241	NOG	HP:0008368	Tarsal synostosis	-	OMIM:186500
9241	NOG	HP:0008368	Tarsal synostosis	HP:0040281	ORPHA:3250
9241	NOG	HP:0008368	Tarsal synostosis	HP:0040281	ORPHA:1412
9241	NOG	HP:0008368	Tarsal synostosis	HP:0040282	OMIM:185800
9241	NOG	HP:0010621	Cutaneous syndactyly of toes	HP:0040282	OMIM:611377
9241	NOG	HP:0010624	Aplastic/hypoplastic toenail	-	OMIM:186500
9241	NOG	HP:0003510	Severe short stature	7/7	OMIM:615777
9241	NOG	HP:0008386	Aplasia/Hypoplasia of the nails	HP:0040282	OMIM:611377
9241	NOG	HP:0002315	Headache	-	OMIM:131300
9241	NOG	HP:0004976	Knee dislocation	6/7	OMIM:615777
9241	NOG	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	HP:0040282	OMIM:611377
9241	NOG	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	HP:0040283	OMIM:185800
9241	NOG	HP:0008513	Bilateral conductive hearing impairment	1/5	OMIM:186500
9241	NOG	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	HP:0040282	OMIM:611377
9241	NOG	HP:0009816	Lower limb undergrowth	-	OMIM:186500
9241	NOG	HP:0009803	Short phalanx of finger	-	OMIM:615777
9241	NOG	HP:0008460	Hypoplastic spinal processes	-	OMIM:186500
9241	NOG	HP:0009773	Symphalangism affecting the phalanges of the hand	-	OMIM:186500
9241	NOG	HP:0009773	Symphalangism affecting the phalanges of the hand	HP:0040282	ORPHA:140908
9241	NOG	HP:0009773	Symphalangism affecting the phalanges of the hand	HP:0040281	ORPHA:3237
9241	NOG	HP:0009763	Limb pain	63/92	OMIM:131300
9241	NOG	HP:0009765	Low hanging columella	HP:0040282	OMIM:184460
9241	NOG	HP:0003621	Juvenile onset	-	OMIM:131300
9241	NOG	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9241	NOG	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:3250
9241	NOG	HP:0004209	Clinodactyly of the 5th finger	1/5	OMIM:186500
9241	NOG	HP:0004279	Short palm	HP:0040281	ORPHA:3237
9241	NOG	HP:0004220	Short middle phalanx of the 5th finger	2/5	OMIM:186500
9241	NOG	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9241	NOG	HP:6001056	Out-toeing	-	OMIM:131300
9241	NOG	HP:0000651	Diplopia	-	OMIM:131300
9241	NOG	HP:0000646	Amblyopia	1/5	OMIM:186500
9241	NOG	HP:0001956	Truncal obesity	2/7	OMIM:615777
9241	NOG	HP:0001903	Anemia	HP:0040283	OMIM:131300
9241	NOG	HP:0010049	Short metacarpal	-	OMIM:615777
9241	NOG	HP:0010047	Short 5th metacarpal	-	OMIM:185800
9241	NOG	HP:0010055	Broad hallux	HP:0040281	OMIM:184460
9241	NOG	HP:0010034	Short 1st metacarpal	HP:0040282	OMIM:186570
9241	NOG	HP:0010034	Short 1st metacarpal	7/10	OMIM:611377
9241	NOG	HP:0000678	Dental crowding	-	OMIM:615777
9241	NOG	HP:0000670	Carious teeth	-	OMIM:131300
9241	NOG	HP:0011304	Broad thumb	HP:0040281	OMIM:184460
9241	NOG	HP:0011304	Broad thumb	2/7	OMIM:615777
9241	NOG	HP:0011304	Broad thumb	HP:0040282	ORPHA:3237
9241	NOG	HP:0000668	Hypodontia	-	OMIM:615777
9241	NOG	HP:0000664	Synophrys	-	OMIM:615777
9241	NOG	HP:0004322	Short stature	HP:0040281	ORPHA:1412
9241	NOG	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes	HP:0040282	OMIM:611377
9241	NOG	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes	HP:0040283	OMIM:185800
9241	NOG	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	HP:0040282	OMIM:611377
9241	NOG	HP:0003070	Elbow ankylosis	HP:0040282	ORPHA:3250
9241	NOG	HP:0003083	Dislocated radial head	-	OMIM:186500
9241	NOG	HP:0004396	Poor appetite	-	OMIM:131300
9241	NOG	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9241	NOG	HP:0003028	Abnormality of the ankle	HP:0040281	ORPHA:1412
9241	NOG	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9241	NOG	HP:0003042	Elbow dislocation	HP:0040282	ORPHA:3250
9241	NOG	HP:0003041	Humeroradial synostosis	HP:0040283	OMIM:186570
9241	NOG	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9241	NOG	HP:0003026	Short long bone	7/7	OMIM:615777
9241	NOG	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9241	NOG	HP:0003022	Hypoplasia of the ulna	1/5	OMIM:186500
9241	NOG	HP:0003019	Abnormality of the wrist	HP:0040283	ORPHA:3250
9241	NOG	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9241	NOG	HP:0000767	Pectus excavatum	-	OMIM:186500
9241	NOG	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9241	NOG	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9241	NOG	HP:0000750	Delayed speech and language development	-	OMIM:615777
9241	NOG	HP:0009177	Proximal/middle symphalangism of 5th finger	2/5	OMIM:186500
9241	NOG	HP:0009177	Proximal/middle symphalangism of 5th finger	-	OMIM:184460
9241	NOG	HP:0011461	Fetal onset	7/7	OMIM:615777
9241	NOG	HP:0010109	Short hallux	-	OMIM:186500
9241	NOG	HP:0000774	Narrow chest	2/7	OMIM:615777
9241	NOG	HP:0000926	Platyspondyly	1/7	OMIM:615777
9241	NOG	HP:0000920	Enlargement of the costochondral junction	-	OMIM:186500
9241	NOG	HP:0003189	Long nose	HP:0040282	OMIM:184460
9241	NOG	HP:0003180	Flat acetabular roof	-	OMIM:615777
9241	NOG	HP:0004482	Relative macrocephaly	-	OMIM:615777
9241	NOG	HP:0005792	Short humerus	-	OMIM:186500
9241	NOG	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9241	NOG	HP:0000879	Short sternum	-	OMIM:186500
9241	NOG	HP:0100394	Short middle phalanx of the 5th toe	1/5	OMIM:186500
9241	NOG	HP:0000823	Delayed puberty	-	OMIM:131300
9241	NOG	HP:0040019	Finger clinodactyly	HP:0040282	ORPHA:3250
9241	NOG	HP:0009295	Short middle phalanx of the 4th finger	1/5	OMIM:186500
9241	NOG	HP:0000894	Short clavicles	-	OMIM:615777
9241	NOG	HP:0005880	Metacarpophalangeal synostosis	HP:0040282	ORPHA:3250
9241	NOG	HP:0005880	Metacarpophalangeal synostosis	HP:0040284	OMIM:185800
9241	NOG	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9241	NOG	HP:0005831	Type B brachydactyly	HP:0040281	ORPHA:140908
9241	NOG	HP:0100264	Proximal symphalangism	HP:0040281	ORPHA:3250
9241	NOG	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9241	NOG	HP:0000954	Single transverse palmar crease	-	OMIM:186500
9241	NOG	HP:0005807	Absent distal phalanges	-	OMIM:186500
9241	NOG	HP:0009381	Short finger	-	OMIM:186570
9241	NOG	HP:0000286	Epicanthus	1/7	OMIM:615777
9241	NOG	HP:0000280	Coarse facial features	2/7	OMIM:615777
9241	NOG	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:3237
9241	NOG	HP:0000275	Narrow face	-	OMIM:186500
9241	NOG	HP:0005104	Hypoplastic nasal septum	-	OMIM:186500
9241	NOG	HP:0002827	Hip dislocation	3/7	OMIM:615777
9241	NOG	HP:0030084	Clinodactyly	-	OMIM:186570
9241	NOG	HP:0006385	Short lower limbs	-	OMIM:186500
9241	NOG	HP:0005048	Synostosis of carpal bones	HP:0040281	ORPHA:3250
9241	NOG	HP:0005048	Synostosis of carpal bones	HP:0040282	ORPHA:140908
9241	NOG	HP:0000252	Microcephaly	-	OMIM:615777
9241	NOG	HP:0000219	Thin upper lip vermilion	4/5	OMIM:186500
9241	NOG	HP:0000215	Thick upper lip vermilion	-	OMIM:186500
9241	NOG	HP:0002857	Genu valgum	-	OMIM:131300
9241	NOG	HP:0001533	Slender build	-	OMIM:131300
9241	NOG	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9241	NOG	HP:0007807	Optic nerve compression	-	OMIM:131300
9241	NOG	HP:0000381	Stapes ankylosis	-	OMIM:186500
9241	NOG	HP:0000381	Stapes ankylosis	HP:0040281	OMIM:184460
9241	NOG	HP:0000381	Stapes ankylosis	HP:0040282	OMIM:185800
9241	NOG	HP:0012368	Flat face	7/7	OMIM:615777
9241	NOG	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9241	NOG	HP:0002949	Fused cervical vertebrae	2/5	OMIM:184460
9241	NOG	HP:0000365	Hearing impairment	10/67	OMIM:131300
9241	NOG	HP:0000364	Hearing abnormality	1/20	OMIM:186570
9241	NOG	HP:0000343	Long philtrum	1/7	OMIM:615777
9241	NOG	HP:0011001	Increased bone mineral density	-	OMIM:131300
9241	NOG	HP:0000311	Round face	2/7	OMIM:615777
9241	NOG	HP:0000322	Short philtrum	-	OMIM:186500
9241	NOG	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:3237
9241	NOG	HP:0002970	Genu varum	-	OMIM:615777
9241	NOG	HP:0002967	Cubitus valgus	HP:0040283	OMIM:186570
9241	NOG	HP:0002967	Cubitus valgus	-	OMIM:186500
9241	NOG	HP:0000303	Mandibular prognathia	-	OMIM:131300
9241	NOG	HP:0007943	Congenital stapes ankylosis	HP:0040281	OMIM:184460
9241	NOG	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:3250
9241	NOG	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:611377
9241	NOG	HP:0000405	Conductive hearing impairment	HP:0040282	OMIM:185800
9241	NOG	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:3237
9241	NOG	HP:0000405	Conductive hearing impairment	HP:0040281	OMIM:184460
9241	NOG	HP:0000405	Conductive hearing impairment	1/5	OMIM:186500
9241	NOG	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9241	NOG	HP:0000483	Astigmatism	1/5	OMIM:186500
9241	NOG	HP:0000486	Strabismus	HP:0040283	ORPHA:3250
9241	NOG	HP:0000486	Strabismus	1/5	OMIM:186500
9241	NOG	HP:0000470	Short neck	1/7	OMIM:615777
9241	NOG	HP:0000466	Limited neck range of motion	3/6	OMIM:184460
9241	NOG	HP:0001798	Anonychia	-	OMIM:186500
9241	NOG	HP:0001770	Toe syndactyly	HP:0040282	OMIM:184460
9241	NOG	HP:0001773	Short foot	HP:0040281	ORPHA:140908
9241	NOG	HP:0001773	Short foot	-	OMIM:186500
9241	NOG	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9241	NOG	HP:0001763	Pes planus	1/7	OMIM:615777
9241	NOG	HP:0000431	Wide nasal bridge	3/5	OMIM:186500
9241	NOG	HP:0000430	Underdeveloped nasal alae	HP:0040282	OMIM:184460
9241	NOG	HP:0000430	Underdeveloped nasal alae	-	OMIM:186500
9241	NOG	HP:0001840	Metatarsus adductus	-	OMIM:615777
9241	NOG	HP:0001857	Short distal phalanx of toe	HP:0040281	ORPHA:140908
9241	NOG	HP:0000520	Proptosis	2/4	OMIM:131300
9241	NOG	HP:0000520	Proptosis	7/7	OMIM:615777
9241	NOG	HP:0000508	Ptosis	2/5	OMIM:186500
9241	NOG	HP:0001831	Short toe	HP:0040281	ORPHA:140908
9241	NOG	HP:0001817	Absent fingernail	HP:0040281	ORPHA:140908
9241	NOG	HP:0000582	Upslanted palpebral fissure	1/5	OMIM:186500
9241	NOG	HP:0000592	Blue sclerae	2/7	OMIM:615777
9241	NOG	HP:0000540	Hypermetropia	HP:0040283	OMIM:611377
9241	NOG	HP:0000540	Hypermetropia	HP:0040281	OMIM:184460
9241	NOG	HP:0000540	Hypermetropia	4/5	OMIM:186500
9241	NOG	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9241	NOG	HP:0012514	Lower limb pain	4/4	OMIM:131300
9244	CRLF1	HP:0001182	Tapered finger	-	OMIM:272430
9244	CRLF1	HP:0001181	Adducted thumb	-	OMIM:272430
9244	CRLF1	HP:0001276	Hypertonia	HP:0040281	ORPHA:1545
9244	CRLF1	HP:0001250	Seizure	HP:0040283	OMIM:272430
9244	CRLF1	HP:0001250	Seizure	HP:0040283	ORPHA:1545
9244	CRLF1	HP:0001249	Intellectual disability	HP:0040283	OMIM:272430
9244	CRLF1	HP:0031085	Decreased circulating prealbumin concentration	HP:0040283	ORPHA:930
9244	CRLF1	HP:0001377	Limited elbow extension	-	OMIM:272430
9244	CRLF1	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:1545
9244	CRLF1	HP:0001371	Flexion contracture	HP:0040281	ORPHA:1545
9244	CRLF1	HP:0008872	Feeding difficulties in infancy	-	OMIM:272430
9244	CRLF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:272430
9244	CRLF1	HP:0002650	Scoliosis	HP:0040281	ORPHA:1545
9244	CRLF1	HP:0000160	Narrow mouth	-	OMIM:272430
9244	CRLF1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:1545
9244	CRLF1	HP:0002751	Kyphoscoliosis	-	OMIM:272430
9244	CRLF1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:930
9244	CRLF1	HP:0002015	Dysphagia	HP:0040281	ORPHA:930
9244	CRLF1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:1545
9244	CRLF1	HP:0002094	Dyspnea	-	OMIM:272430
9244	CRLF1	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:1545
9244	CRLF1	HP:0002047	Malignant hyperthermia	HP:0040281	ORPHA:1545
9244	CRLF1	HP:0009466	Radial deviation of finger	-	OMIM:272430
9244	CRLF1	HP:0002100	Recurrent aspiration pneumonia	HP:0040283	ORPHA:930
9244	CRLF1	HP:0002179	Opisthotonus	-	OMIM:272430
9244	CRLF1	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1545
9244	CRLF1	HP:0100729	Large face	-	OMIM:272430
9244	CRLF1	HP:0100729	Large face	HP:0040281	ORPHA:1545
9244	CRLF1	HP:0100749	Chest pain	HP:0040282	ORPHA:930
9244	CRLF1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:1545
9244	CRLF1	HP:0010628	Facial palsy	-	OMIM:272430
9244	CRLF1	HP:0004279	Short palm	-	OMIM:272430
9244	CRLF1	HP:0001954	Recurrent fever	-	OMIM:272430
9244	CRLF1	HP:0000670	Carious teeth	-	OMIM:272430
9244	CRLF1	HP:0004395	Malnutrition	HP:0040283	ORPHA:930
9244	CRLF1	HP:0012735	Cough	HP:0040282	ORPHA:930
9244	CRLF1	HP:0030828	Wheezing	HP:0040283	ORPHA:930
9244	CRLF1	HP:0000975	Hyperhidrosis	-	OMIM:272430
9244	CRLF1	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:1545
9244	CRLF1	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:1545
9244	CRLF1	HP:0000278	Retrognathia	-	OMIM:272430
9244	CRLF1	HP:0000293	Full cheeks	-	OMIM:272430
9244	CRLF1	HP:0000293	Full cheeks	HP:0040281	ORPHA:1545
9244	CRLF1	HP:0002808	Kyphosis	HP:0040281	ORPHA:1545
9244	CRLF1	HP:0000218	High palate	-	OMIM:272430
9244	CRLF1	HP:0000218	High palate	HP:0040282	ORPHA:1545
9244	CRLF1	HP:0001522	Death in infancy	HP:0040281	ORPHA:1545
9244	CRLF1	HP:0000211	Trismus	-	OMIM:272430
9244	CRLF1	HP:0012385	Camptodactyly	-	OMIM:272430
9244	CRLF1	HP:0012387	Bronchitis	HP:0040282	ORPHA:930
9244	CRLF1	HP:0001611	Hypernasal speech	-	OMIM:272430
9244	CRLF1	HP:0000369	Low-set ears	-	OMIM:272430
9244	CRLF1	HP:0000343	Long philtrum	-	OMIM:272430
9244	CRLF1	HP:0000343	Long philtrum	HP:0040281	ORPHA:1545
9244	CRLF1	HP:0000347	Micrognathia	-	OMIM:272430
9244	CRLF1	HP:0000347	Micrognathia	HP:0040283	ORPHA:1545
9244	CRLF1	HP:0001645	Sudden cardiac death	HP:0040281	ORPHA:1545
9244	CRLF1	HP:0002987	Elbow flexion contracture	-	OMIM:272430
9244	CRLF1	HP:0005280	Depressed nasal bridge	-	OMIM:272430
9244	CRLF1	HP:0000491	Keratitis	-	OMIM:272430
9244	CRLF1	HP:0000463	Anteverted nares	-	OMIM:272430
9244	CRLF1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:1545
9244	CRLF1	HP:0000470	Short neck	-	OMIM:272430
9244	CRLF1	HP:0001763	Pes planus	-	OMIM:272430
9244	CRLF1	HP:0000445	Wide nose	-	OMIM:272430
9244	CRLF1	HP:0000445	Wide nose	HP:0040281	ORPHA:1545
9244	CRLF1	HP:0001762	Talipes equinovarus	-	OMIM:272430
9244	CRLF1	HP:0001824	Weight loss	HP:0040282	ORPHA:930
9247	GCM2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9247	GCM2	HP:0001293	Cranial nerve compression	-	OMIM:131300
9247	GCM2	HP:0001252	Hypotonia	2/7	OMIM:615777
9247	GCM2	HP:0001249	Intellectual disability	5/7	OMIM:615777
9247	GCM2	HP:0001263	Global developmental delay	-	OMIM:615777
9247	GCM2	HP:0002515	Waddling gait	54/102	OMIM:131300
9247	GCM2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:99879
9247	GCM2	HP:0001382	Joint hypermobility	-	OMIM:615777
9247	GCM2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9247	GCM2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9247	GCM2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9247	GCM2	HP:0001324	Muscle weakness	40/96	OMIM:131300
9247	GCM2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9247	GCM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618883
9247	GCM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9247	GCM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617343
9247	GCM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9247	GCM2	HP:0002650	Scoliosis	12/14	OMIM:131300
9247	GCM2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9247	GCM2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9247	GCM2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9247	GCM2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9247	GCM2	HP:0000175	Cleft palate	2/7	OMIM:615777
9247	GCM2	HP:0000121	Nephrocalcinosis	HP:0040281	ORPHA:99879
9247	GCM2	HP:0003388	Easy fatigability	36/76	OMIM:131300
9247	GCM2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9247	GCM2	HP:0008198	Congenital hypoparathyroidism	HP:0040280	ORPHA:2239
9247	GCM2	HP:0002150	Hypercalciuria	HP:0040281	ORPHA:99879
9247	GCM2	HP:0002150	Hypercalciuria	HP:0040281	ORPHA:2239
9247	GCM2	HP:0002148	Hypophosphatemia	HP:0040281	ORPHA:99879
9247	GCM2	HP:0002199	Hypocalcemic seizures	3/4	OMIM:618883
9247	GCM2	HP:0002199	Hypocalcemic seizures	HP:0040281	ORPHA:2239
9247	GCM2	HP:0008211	Parathyroid agenesis	HP:0040280	ORPHA:2239
9247	GCM2	HP:0008200	Primary hyperparathyroidism	19/19	OMIM:617343
9247	GCM2	HP:0008200	Primary hyperparathyroidism	HP:0040281	ORPHA:99879
9247	GCM2	HP:0003581	Adult onset	19/19	OMIM:617343
9247	GCM2	HP:0003510	Severe short stature	7/7	OMIM:615777
9247	GCM2	HP:0002315	Headache	-	OMIM:131300
9247	GCM2	HP:0004976	Knee dislocation	6/7	OMIM:615777
9247	GCM2	HP:0009803	Short phalanx of finger	-	OMIM:615777
9247	GCM2	HP:0009763	Limb pain	63/92	OMIM:131300
9247	GCM2	HP:0003621	Juvenile onset	-	OMIM:131300
9247	GCM2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9247	GCM2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9247	GCM2	HP:0031817	Decreased circulating parathyroid hormone level	4/4	OMIM:618883
9247	GCM2	HP:6001056	Out-toeing	-	OMIM:131300
9247	GCM2	HP:0000651	Diplopia	-	OMIM:131300
9247	GCM2	HP:0001956	Truncal obesity	2/7	OMIM:615777
9247	GCM2	HP:0001903	Anemia	HP:0040283	OMIM:131300
9247	GCM2	HP:0010049	Short metacarpal	-	OMIM:615777
9247	GCM2	HP:0000678	Dental crowding	-	OMIM:615777
9247	GCM2	HP:0000670	Carious teeth	-	OMIM:131300
9247	GCM2	HP:0011304	Broad thumb	2/7	OMIM:615777
9247	GCM2	HP:0000668	Hypodontia	-	OMIM:615777
9247	GCM2	HP:0000664	Synophrys	-	OMIM:615777
9247	GCM2	HP:0003072	Hypercalcemia	19/19	OMIM:617343
9247	GCM2	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:99879
9247	GCM2	HP:0004396	Poor appetite	-	OMIM:131300
9247	GCM2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9247	GCM2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9247	GCM2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9247	GCM2	HP:0003026	Short long bone	7/7	OMIM:615777
9247	GCM2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9247	GCM2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9247	GCM2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9247	GCM2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9247	GCM2	HP:0000750	Delayed speech and language development	-	OMIM:615777
9247	GCM2	HP:0011458	Abdominal symptom	HP:0040283	ORPHA:99879
9247	GCM2	HP:0011461	Fetal onset	7/7	OMIM:615777
9247	GCM2	HP:0000774	Narrow chest	2/7	OMIM:615777
9247	GCM2	HP:0000787	Nephrolithiasis	4/19	OMIM:617343
9247	GCM2	HP:0003109	Hyperphosphaturia	HP:0040281	ORPHA:99879
9247	GCM2	HP:0000926	Platyspondyly	1/7	OMIM:615777
9247	GCM2	HP:0003180	Flat acetabular roof	-	OMIM:615777
9247	GCM2	HP:0004482	Relative macrocephaly	-	OMIM:615777
9247	GCM2	HP:0003165	Elevated circulating parathyroid hormone level	HP:0040281	ORPHA:99879
9247	GCM2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9247	GCM2	HP:0000823	Delayed puberty	-	OMIM:131300
9247	GCM2	HP:0000894	Short clavicles	-	OMIM:615777
9247	GCM2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9247	GCM2	HP:0003251	Male infertility	HP:0040282	ORPHA:2239
9247	GCM2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9247	GCM2	HP:0000938	Osteopenia	3/19	OMIM:617343
9247	GCM2	HP:0000938	Osteopenia	HP:0040281	ORPHA:99879
9247	GCM2	HP:0000934	Chondrocalcinosis	HP:0040281	ORPHA:99879
9247	GCM2	HP:0040160	Generalized osteoporosis	HP:0040281	ORPHA:99879
9247	GCM2	HP:0000286	Epicanthus	1/7	OMIM:615777
9247	GCM2	HP:0000280	Coarse facial features	2/7	OMIM:615777
9247	GCM2	HP:0002827	Hip dislocation	3/7	OMIM:615777
9247	GCM2	HP:0002897	Parathyroid adenoma	HP:0040281	ORPHA:99879
9247	GCM2	HP:0000252	Microcephaly	-	OMIM:615777
9247	GCM2	HP:0002857	Genu valgum	-	OMIM:131300
9247	GCM2	HP:0001533	Slender build	-	OMIM:131300
9247	GCM2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9247	GCM2	HP:0007807	Optic nerve compression	-	OMIM:131300
9247	GCM2	HP:0012368	Flat face	7/7	OMIM:615777
9247	GCM2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9247	GCM2	HP:0002917	Hypomagnesemia	HP:0040283	ORPHA:2239
9247	GCM2	HP:0002905	Hyperphosphatemia	1/2	OMIM:618883
9247	GCM2	HP:0002905	Hyperphosphatemia	HP:0040281	ORPHA:2239
9247	GCM2	HP:0002901	Hypocalcemia	2/3	OMIM:618883
9247	GCM2	HP:0002901	Hypocalcemia	HP:0040280	ORPHA:2239
9247	GCM2	HP:0000365	Hearing impairment	10/67	OMIM:131300
9247	GCM2	HP:0000343	Long philtrum	1/7	OMIM:615777
9247	GCM2	HP:0011001	Increased bone mineral density	-	OMIM:131300
9247	GCM2	HP:0000311	Round face	2/7	OMIM:615777
9247	GCM2	HP:0002970	Genu varum	-	OMIM:615777
9247	GCM2	HP:0000303	Mandibular prognathia	-	OMIM:131300
9247	GCM2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9247	GCM2	HP:0000470	Short neck	1/7	OMIM:615777
9247	GCM2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9247	GCM2	HP:0001763	Pes planus	1/7	OMIM:615777
9247	GCM2	HP:0006780	Parathyroid carcinoma	1/17	OMIM:617343
9247	GCM2	HP:0001840	Metatarsus adductus	-	OMIM:615777
9247	GCM2	HP:0000520	Proptosis	2/4	OMIM:131300
9247	GCM2	HP:0000520	Proptosis	7/7	OMIM:615777
9247	GCM2	HP:0000592	Blue sclerae	2/7	OMIM:615777
9247	GCM2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9247	GCM2	HP:0012514	Lower limb pain	4/4	OMIM:131300
9254	CACNA2D2	HP:0001290	Generalized hypotonia	3/3	OMIM:618501
9254	CACNA2D2	HP:0001250	Seizure	3/3	OMIM:618501
9254	CACNA2D2	HP:0001251	Ataxia	-	OMIM:618501
9254	CACNA2D2	HP:0001260	Dysarthria	-	OMIM:618501
9254	CACNA2D2	HP:0002540	Inability to walk	-	OMIM:618501
9254	CACNA2D2	HP:0001344	Absent speech	3/3	OMIM:618501
9254	CACNA2D2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618501
9254	CACNA2D2	HP:0001310	Dysmetria	-	OMIM:618501
9254	CACNA2D2	HP:0008936	Axial hypotonia	3/3	OMIM:618501
9254	CACNA2D2	HP:0002066	Gait ataxia	-	OMIM:618501
9254	CACNA2D2	HP:0002072	Chorea	-	OMIM:618501
9254	CACNA2D2	HP:0003593	Infantile onset	-	OMIM:618501
9254	CACNA2D2	HP:0200134	Epileptic encephalopathy	-	OMIM:618501
9254	CACNA2D2	HP:0003623	Neonatal onset	3/3	OMIM:618501
9254	CACNA2D2	HP:0006855	Cerebellar vermis atrophy	-	OMIM:618501
9254	CACNA2D2	HP:0000639	Nystagmus	-	OMIM:618501
9254	CACNA2D2	HP:0001999	Abnormal facial shape	0/3	OMIM:618501
9254	CACNA2D2	HP:0012736	Profound global developmental delay	3/3	OMIM:618501
9254	CACNA2D2	HP:0000817	Reduced eye contact	13/13	OMIM:618501
9254	CACNA2D2	HP:0000486	Strabismus	-	OMIM:618501
9254	CACNA2D2	HP:0000496	Abnormality of eye movement	-	OMIM:618501
9255	AIMP1	HP:0007256	Abnormal pyramidal sign	4/4	OMIM:260600
9255	AIMP1	HP:0007210	Lower limb amyotrophy	6/7	OMIM:260600
9255	AIMP1	HP:0002415	Leukodystrophy	-	OMIM:260600
9255	AIMP1	HP:0002587	Projectile vomiting	-	OMIM:260600
9255	AIMP1	HP:0001250	Seizure	2/5	OMIM:260600
9255	AIMP1	HP:0001263	Global developmental delay	7/7	OMIM:260600
9255	AIMP1	HP:0007371	Corpus callosum atrophy	-	OMIM:260600
9255	AIMP1	HP:0001344	Absent speech	7/7	OMIM:260600
9255	AIMP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:260600
9255	AIMP1	HP:0008936	Axial hypotonia	7/7	OMIM:260600
9255	AIMP1	HP:0002751	Kyphoscoliosis	6/7	OMIM:260600
9255	AIMP1	HP:0003593	Infantile onset	7/7	OMIM:260600
9255	AIMP1	HP:0002283	Global brain atrophy	-	OMIM:260600
9255	AIMP1	HP:0003676	Progressive	-	OMIM:260600
9255	AIMP1	HP:0002353	EEG abnormality	-	OMIM:260600
9255	AIMP1	HP:0002313	Spastic paraparesis	7/7	OMIM:260600
9255	AIMP1	HP:0000639	Nystagmus	7/7	OMIM:260600
9255	AIMP1	HP:0006918	Diffuse cerebral sclerosis	-	OMIM:260600
9255	AIMP1	HP:0034392	Joint contracture	6/7	OMIM:260600
9255	AIMP1	HP:0003269	Sudanophilic leukodystrophy	-	OMIM:260600
9255	AIMP1	HP:0034353	Appendicular spasticity	7/7	OMIM:260600
9255	AIMP1	HP:0000280	Coarse facial features	7/7	OMIM:260600
9255	AIMP1	HP:0000252	Microcephaly	4/4	OMIM:260600
9255	AIMP1	HP:0001522	Death in infancy	-	OMIM:260600
9255	AIMP1	HP:0001508	Failure to thrive	7/7	OMIM:260600
9255	AIMP1	HP:0001622	Premature birth	-	OMIM:260600
9255	AIMP1	HP:0030211	Slow pupillary light response	3/4	OMIM:260600
9255	AIMP1	HP:0000505	Visual impairment	7/7	OMIM:260600
9255	AIMP1	HP:0000577	Exotropia	2/4	OMIM:260600
9256	TSPOAP1	HP:0003785	Decreased CSF homovanillic acid concentration	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0003781	Excessive salivation	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0002448	Progressive encephalopathy	HP:0040284	ORPHA:101150
9256	TSPOAP1	HP:0007325	Generalized dystonia	HP:0040283	ORPHA:101150
9256	TSPOAP1	HP:0007325	Generalized dystonia	3/3	OMIM:620453
9256	TSPOAP1	HP:0001290	Generalized hypotonia	HP:0040284	ORPHA:101150
9256	TSPOAP1	HP:0001272	Cerebellar atrophy	3/3	OMIM:620453
9256	TSPOAP1	HP:0001270	Motor delay	0/3	OMIM:620456
9256	TSPOAP1	HP:0001270	Motor delay	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0001268	Mental deterioration	3/3	OMIM:620456
9256	TSPOAP1	HP:0001268	Mental deterioration	3/3	OMIM:620453
9256	TSPOAP1	HP:0001288	Gait disturbance	0/3	OMIM:620456
9256	TSPOAP1	HP:0001254	Lethargy	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:101150
9256	TSPOAP1	HP:0001252	Hypotonia	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0001251	Ataxia	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0001260	Dysarthria	3/3	OMIM:620453
9256	TSPOAP1	HP:0007351	Upper limb postural tremor	1/3	OMIM:620456
9256	TSPOAP1	HP:0002544	Retrocollis	1/3	OMIM:620456
9256	TSPOAP1	HP:0012048	Oromandibular dystonia	3/3	OMIM:620453
9256	TSPOAP1	HP:0012049	Laryngeal dystonia	3/3	OMIM:620453
9256	TSPOAP1	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620456
9256	TSPOAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620453
9256	TSPOAP1	HP:0001336	Myoclonus	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0001310	Dysmetria	1/3	OMIM:620453
9256	TSPOAP1	HP:0001300	Parkinsonism	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0002019	Constipation	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0002080	Intention tremor	1/3	OMIM:620453
9256	TSPOAP1	HP:0002069	Bilateral tonic-clonic seizure	1/3	OMIM:620453
9256	TSPOAP1	HP:0002067	Bradykinesia	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0002063	Rigidity	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0002061	Lower limb spasticity	1/3	OMIM:620453
9256	TSPOAP1	HP:0002075	Dysdiadochokinesis	1/3	OMIM:620453
9256	TSPOAP1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0003487	Babinski sign	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0003487	Babinski sign	1/3	OMIM:620456
9256	TSPOAP1	HP:0002174	Postural tremor	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0010553	Oculogyric crisis	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0003596	Middle age onset	1/3	OMIM:620456
9256	TSPOAP1	HP:0003584	Late onset	2/3	OMIM:620456
9256	TSPOAP1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0002375	Hypokinesia	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0003621	Juvenile onset	3/3	OMIM:620453
9256	TSPOAP1	HP:0001945	Fever	HP:0040283	ORPHA:101150
9256	TSPOAP1	HP:0004373	Focal dystonia	1/1	OMIM:620456
9256	TSPOAP1	HP:0004373	Focal dystonia	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0000737	Irritability	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0030166	Night sweats	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0000473	Torticollis	1/1	OMIM:620456
9256	TSPOAP1	HP:0000473	Torticollis	3/3	OMIM:620453
9256	TSPOAP1	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0001761	Pes cavus	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0000514	Slow saccadic eye movements	2/3	OMIM:620453
9256	TSPOAP1	HP:0000508	Ptosis	HP:0040282	ORPHA:101150
9256	TSPOAP1	HP:0000571	Hypometric saccades	2/3	OMIM:620453
9276	COPB2	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
9276	COPB2	HP:0009879	Simplified gyral pattern	2/6	OMIM:619884
9276	COPB2	HP:0009879	Simplified gyral pattern	2/2	OMIM:617800
9276	COPB2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
9276	COPB2	HP:0001256	Intellectual disability, mild	-	OMIM:259770
9276	COPB2	HP:0001250	Seizure	2/6	OMIM:619884
9276	COPB2	HP:0001252	Hypotonia	-	OMIM:259770
9276	COPB2	HP:0001249	Intellectual disability	3/4	OMIM:619884
9276	COPB2	HP:0001263	Global developmental delay	6/6	OMIM:619884
9276	COPB2	HP:0001263	Global developmental delay	1/1	OMIM:612394
9276	COPB2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
9276	COPB2	HP:0001257	Spasticity	4/6	OMIM:619884
9276	COPB2	HP:0001257	Spasticity	2/2	OMIM:617800
9276	COPB2	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
9276	COPB2	HP:0002540	Inability to walk	2/6	OMIM:619884
9276	COPB2	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
9276	COPB2	HP:0001382	Joint hypermobility	-	OMIM:259770
9276	COPB2	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
9276	COPB2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
9276	COPB2	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
9276	COPB2	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
9276	COPB2	HP:0000002	Abnormality of body height	0/2	OMIM:617800
9276	COPB2	HP:0033725	Thin corpus callosum	2/6	OMIM:619884
9276	COPB2	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
9276	COPB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617800
9276	COPB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
9276	COPB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
9276	COPB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619884
9276	COPB2	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
9276	COPB2	HP:0002650	Scoliosis	1/5	OMIM:259770
9276	COPB2	HP:0002650	Scoliosis	1/1	OMIM:612394
9276	COPB2	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
9276	COPB2	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
9276	COPB2	HP:0002757	Recurrent fractures	4/5	OMIM:259770
9276	COPB2	HP:0002757	Recurrent fractures	2/6	OMIM:619884
9276	COPB2	HP:0002756	Pathologic fracture	-	OMIM:259770
9276	COPB2	HP:0002756	Pathologic fracture	1/1	OMIM:612394
9276	COPB2	HP:0002751	Kyphoscoliosis	-	OMIM:259770
9276	COPB2	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
9276	COPB2	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
9276	COPB2	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:617800
9276	COPB2	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
9276	COPB2	HP:0002119	Ventriculomegaly	2/2	OMIM:617800
9276	COPB2	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
9276	COPB2	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
9276	COPB2	HP:0002136	Broad-based gait	2/6	OMIM:619884
9276	COPB2	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
9276	COPB2	HP:0002188	Delayed CNS myelination	2/6	OMIM:619884
9276	COPB2	HP:0002188	Delayed CNS myelination	2/2	OMIM:617800
9276	COPB2	HP:0002164	Nail dysplasia	1/1	OMIM:612394
9276	COPB2	HP:0010557	Overlapping fingers	1/2	OMIM:612394
9276	COPB2	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
9276	COPB2	HP:0003593	Infantile onset	1/4	OMIM:619884
9276	COPB2	HP:0003593	Infantile onset	1/5	OMIM:259770
9276	COPB2	HP:0003577	Congenital onset	4/5	OMIM:259770
9276	COPB2	HP:0003577	Congenital onset	2/2	OMIM:617800
9276	COPB2	HP:0100704	Cerebral visual impairment	2/2	OMIM:617800
9276	COPB2	HP:0002208	Coarse hair	1/1	OMIM:612394
9276	COPB2	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
9276	COPB2	HP:0032046	Focal cortical dysplasia	1/6	OMIM:619884
9276	COPB2	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
9276	COPB2	HP:0025019	Arterial rupture	1/1	OMIM:612394
9276	COPB2	HP:0003676	Progressive	-	OMIM:617800
9276	COPB2	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
9276	COPB2	HP:0001089	Iris atrophy	-	OMIM:259770
9276	COPB2	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
9276	COPB2	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
9276	COPB2	HP:0000618	Blindness	5/5	OMIM:259770
9276	COPB2	HP:0011344	Severe global developmental delay	2/2	OMIM:617800
9276	COPB2	HP:0000667	Phthisis bulbi	-	OMIM:259770
9276	COPB2	HP:0004325	Decreased body weight	2/2	OMIM:617800
9276	COPB2	HP:0004322	Short stature	-	OMIM:259770
9276	COPB2	HP:0004322	Short stature	HP:0040281	ORPHA:2512
9276	COPB2	HP:0003016	Metaphyseal widening	-	OMIM:259770
9276	COPB2	HP:0011463	Childhood onset	3/4	OMIM:619884
9276	COPB2	HP:0011461	Fetal onset	2/2	OMIM:612394
9276	COPB2	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
9276	COPB2	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
9276	COPB2	HP:0003196	Short nose	1/1	OMIM:612394
9276	COPB2	HP:0000926	Platyspondyly	-	OMIM:259770
9276	COPB2	HP:0000926	Platyspondyly	1/1	OMIM:612394
9276	COPB2	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
9276	COPB2	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
9276	COPB2	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
9276	COPB2	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
9276	COPB2	HP:0000939	Osteoporosis	4/5	OMIM:259770
9276	COPB2	HP:0000938	Osteopenia	5/5	OMIM:619884
9276	COPB2	HP:0000938	Osteopenia	1/5	OMIM:259770
9276	COPB2	HP:0000938	Osteopenia	1/1	OMIM:612394
9276	COPB2	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
9276	COPB2	HP:0000272	Malar flattening	1/1	OMIM:612394
9276	COPB2	HP:0007773	Vitreoretinopathy	-	OMIM:259770
9276	COPB2	HP:0002808	Kyphosis	1/5	OMIM:259770
9276	COPB2	HP:0000252	Microcephaly	2/2	OMIM:617800
9276	COPB2	HP:0000252	Microcephaly	4/6	OMIM:619884
9276	COPB2	HP:0000252	Microcephaly	-	OMIM:259770
9276	COPB2	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
9276	COPB2	HP:0001552	Barrel-shaped chest	-	OMIM:259770
9276	COPB2	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
9276	COPB2	HP:0001531	Failure to thrive in infancy	2/2	OMIM:617800
9276	COPB2	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
9276	COPB2	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
9276	COPB2	HP:0012368	Flat face	1/1	OMIM:612394
9276	COPB2	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
9276	COPB2	HP:0007875	Congenital blindness	4/5	OMIM:259770
9276	COPB2	HP:0007862	Retinal calcification	1/5	OMIM:259770
9276	COPB2	HP:0000369	Low-set ears	2/2	OMIM:612394
9276	COPB2	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
9276	COPB2	HP:0002982	Tibial bowing	1/5	OMIM:259770
9276	COPB2	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
9276	COPB2	HP:0001629	Ventricular septal defect	-	OMIM:259770
9276	COPB2	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
9276	COPB2	HP:0001622	Premature birth	3/6	OMIM:619884
9276	COPB2	HP:0000307	Pointed chin	1/2	OMIM:612394
9276	COPB2	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
9276	COPB2	HP:0000463	Anteverted nares	1/1	OMIM:612394
9276	COPB2	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
9276	COPB2	HP:0000518	Cataract	1/5	OMIM:259770
9276	COPB2	HP:0000518	Cataract	1/1	OMIM:612394
9276	COPB2	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
9276	COPB2	HP:0000586	Shallow orbits	1/1	OMIM:612394
9276	COPB2	HP:0000568	Microphthalmia	1/5	OMIM:259770
9276	COPB2	HP:0012510	Extra-axial cerebrospinal fluid accumulation	2/2	OMIM:617800
9276	COPB2	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
9276	COPB2	HP:0000545	Myopia	1/1	OMIM:612394
9289	ADGRG1	HP:0002463	Language impairment	5/5	OMIM:615752
9289	ADGRG1	HP:0002463	Language impairment	HP:0040282	ORPHA:98889
9289	ADGRG1	HP:0002463	Language impairment	HP:0040282	ORPHA:101070
9289	ADGRG1	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040282	ORPHA:101070
9289	ADGRG1	HP:0007266	Cerebral dysmyelination	-	OMIM:606854
9289	ADGRG1	HP:0007266	Cerebral dysmyelination	HP:0040281	ORPHA:101070
9289	ADGRG1	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:101070
9289	ADGRG1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:101070
9289	ADGRG1	HP:0001276	Hypertonia	3/3	OMIM:606854
9289	ADGRG1	HP:0001270	Motor delay	HP:0040281	ORPHA:101070
9289	ADGRG1	HP:0001270	Motor delay	0/5	OMIM:615752
9289	ADGRG1	HP:0001250	Seizure	HP:0040281	ORPHA:101070
9289	ADGRG1	HP:0001250	Seizure	4/5	OMIM:606854
9289	ADGRG1	HP:0001250	Seizure	HP:0040282	ORPHA:98889
9289	ADGRG1	HP:0001250	Seizure	5/5	OMIM:615752
9289	ADGRG1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:101070
9289	ADGRG1	HP:0001249	Intellectual disability	5/5	OMIM:606854
9289	ADGRG1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:98889
9289	ADGRG1	HP:0001249	Intellectual disability	4/5	OMIM:615752
9289	ADGRG1	HP:0001260	Dysarthria	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:101070
9289	ADGRG1	HP:0001263	Global developmental delay	5/5	OMIM:606854
9289	ADGRG1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:98889
9289	ADGRG1	HP:0001257	Spasticity	HP:0040282	ORPHA:98889
9289	ADGRG1	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:98889
9289	ADGRG1	HP:0002539	Cortical dysplasia	HP:0040281	ORPHA:101070
9289	ADGRG1	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0002509	Limb hypertonia	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0001371	Flexion contracture	HP:0040282	ORPHA:98889
9289	ADGRG1	HP:0012015	EEG with frontal focal spikes	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0012017	EEG with parietal focal spikes	HP:0040282	ORPHA:98889
9289	ADGRG1	HP:0012014	EEG with central focal spikes	HP:0040282	ORPHA:98889
9289	ADGRG1	HP:0001349	Facial diplegia	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0001347	Hyperreflexia	-	OMIM:606854
9289	ADGRG1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:98889
9289	ADGRG1	HP:0410011	Abnormality of masticatory muscle	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:98889
9289	ADGRG1	HP:0032407	Bilateral perisylvian polymicrogyria	HP:0040281	ORPHA:98889
9289	ADGRG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:606854
9289	ADGRG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615752
9289	ADGRG1	HP:0001310	Dysmetria	3/3	OMIM:606854
9289	ADGRG1	HP:0001310	Dysmetria	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040282	ORPHA:101070
9289	ADGRG1	HP:0001321	Cerebellar hypoplasia	-	OMIM:606854
9289	ADGRG1	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:101070
9289	ADGRG1	HP:0008947	Floppy infant	HP:0040282	ORPHA:98889
9289	ADGRG1	HP:0012110	Hypoplasia of the pons	HP:0040282	ORPHA:101070
9289	ADGRG1	HP:0012110	Hypoplasia of the pons	2/2	OMIM:606854
9289	ADGRG1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0002015	Dysphagia	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0002078	Truncal ataxia	3/3	OMIM:606854
9289	ADGRG1	HP:0011755	Ectopic posterior pituitary	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0002141	Gait imbalance	HP:0040282	ORPHA:101070
9289	ADGRG1	HP:0003487	Babinski sign	-	OMIM:606854
9289	ADGRG1	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:101070
9289	ADGRG1	HP:0002119	Ventriculomegaly	2/2	OMIM:606854
9289	ADGRG1	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:101070
9289	ADGRG1	HP:0002136	Broad-based gait	-	OMIM:606854
9289	ADGRG1	HP:0002104	Apnea	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0003593	Infantile onset	-	OMIM:615752
9289	ADGRG1	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:98889
9289	ADGRG1	HP:0003577	Congenital onset	5/5	OMIM:606854
9289	ADGRG1	HP:0007033	Cerebellar dysplasia	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0007033	Cerebellar dysplasia	HP:0040281	ORPHA:101070
9289	ADGRG1	HP:0007024	Pseudobulbar paralysis	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0002385	Paraparesis	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0002392	EEG with polyspike wave complexes	HP:0040282	ORPHA:98889
9289	ADGRG1	HP:0002365	Hypoplasia of the brainstem	-	OMIM:606854
9289	ADGRG1	HP:0002365	Hypoplasia of the brainstem	HP:0040283	ORPHA:101070
9289	ADGRG1	HP:0010819	Atonic seizure	HP:0040283	ORPHA:101070
9289	ADGRG1	HP:0010808	Protruding tongue	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0002307	Drooling	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0020190	Perisylvian predominant thick cortex pachygyria	HP:0040282	ORPHA:98889
9289	ADGRG1	HP:0006821	Frontal polymicrogyria	2/2	OMIM:606854
9289	ADGRG1	HP:0000639	Nystagmus	-	OMIM:606854
9289	ADGRG1	HP:0000639	Nystagmus	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0012650	Perisylvian polymicrogyria	5/5	OMIM:606854
9289	ADGRG1	HP:0012650	Perisylvian polymicrogyria	5/5	OMIM:615752
9289	ADGRG1	HP:0001999	Abnormal facial shape	0/5	OMIM:606854
9289	ADGRG1	HP:0005684	Distal arthrogryposis	HP:0040282	ORPHA:98889
9289	ADGRG1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:98889
9289	ADGRG1	HP:0011448	Ankle clonus	1/5	OMIM:606854
9289	ADGRG1	HP:0040194	Increased head circumference	HP:0040283	ORPHA:101070
9289	ADGRG1	HP:0000252	Microcephaly	HP:0040283	ORPHA:101070
9289	ADGRG1	HP:0000252	Microcephaly	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0002835	Aspiration	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0000347	Micrognathia	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0011157	Focal sensory seizure	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:98889
9289	ADGRG1	HP:0011147	Typical absence seizure	HP:0040283	ORPHA:101070
9289	ADGRG1	HP:0000486	Strabismus	HP:0040283	ORPHA:101070
9289	ADGRG1	HP:0012469	Infantile spasms	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0000453	Choanal atresia	HP:0040283	ORPHA:98889
9289	ADGRG1	HP:0000577	Exotropia	1/5	OMIM:615752
9289	ADGRG1	HP:0000577	Exotropia	-	OMIM:606854
9289	ADGRG1	HP:0000565	Esotropia	5/5	OMIM:606854
9289	ADGRG1	HP:0000565	Esotropia	HP:0040282	ORPHA:101070
9294	S1PR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:610419
9294	S1PR2	HP:0003593	Infantile onset	-	OMIM:610419
9294	S1PR2	HP:0000407	Sensorineural hearing impairment	-	OMIM:610419
9313	MMP20	HP:0000007	Autosomal recessive inheritance	-	OMIM:612529
9313	MMP20	HP:0033786	Hypomature enamel	2/2	OMIM:612529
9313	MMP20	HP:0006286	Yellow-brown discoloration of the teeth	2/2	OMIM:612529
9313	MMP20	HP:0009102	Anterior open-bite malocclusion	1/2	OMIM:612529
9313	MMP20	HP:0000705	Amelogenesis imperfecta	2/2	OMIM:612529
9319	TRIP13	HP:0010880	Increased nuchal translucency	HP:0040281	ORPHA:1052
9319	TRIP13	HP:0001250	Seizure	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0001250	Seizure	1/6	OMIM:617598
9319	TRIP13	HP:0001252	Hypotonia	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1052
9319	TRIP13	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1052
9319	TRIP13	HP:0001263	Global developmental delay	2/6	OMIM:617598
9319	TRIP13	HP:0007429	Few cafe-au-lait spots	1/6	OMIM:617598
9319	TRIP13	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:654
9319	TRIP13	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:654
9319	TRIP13	HP:0000085	Horseshoe kidney	1/6	OMIM:617598
9319	TRIP13	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0000047	Hypospadias	HP:0040283	ORPHA:654
9319	TRIP13	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0033834	Malaise	HP:0040283	ORPHA:654
9319	TRIP13	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:654
9319	TRIP13	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0002664	Neoplasm	HP:0040281	ORPHA:654
9319	TRIP13	HP:0002664	Neoplasm	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0000007	Autosomal recessive inheritance	-	OMIM:617598
9319	TRIP13	HP:0000007	Autosomal recessive inheritance	-	OMIM:619011
9319	TRIP13	HP:0002667	Nephroblastoma	HP:0040281	ORPHA:654
9319	TRIP13	HP:0002667	Nephroblastoma	6/6	OMIM:617598
9319	TRIP13	HP:0002667	Nephroblastoma	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0001305	Dandy-Walker malformation	HP:0040281	ORPHA:1052
9319	TRIP13	HP:0031105	Abnormal uterus morphology	HP:0040283	ORPHA:654
9319	TRIP13	HP:0000175	Cleft palate	1/6	OMIM:617598
9319	TRIP13	HP:0000175	Cleft palate	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0000140	Abnormality of the menstrual cycle	0/5	OMIM:619011
9319	TRIP13	HP:0012126	Stomach cancer	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0002797	Osteolysis	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:654
9319	TRIP13	HP:0002027	Abdominal pain	HP:0040282	ORPHA:654
9319	TRIP13	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:654
9319	TRIP13	HP:0002094	Dyspnea	HP:0040284	ORPHA:654
9319	TRIP13	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1052
9319	TRIP13	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0002104	Apnea	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0008222	Female infertility	5/5	OMIM:619011
9319	TRIP13	HP:0003593	Infantile onset	3/6	OMIM:617598
9319	TRIP13	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:1052
9319	TRIP13	HP:0033336	Zygotic cleavage failure	1/4	OMIM:619011
9319	TRIP13	HP:0008330	Reduced von Willebrand factor activity	HP:0040283	ORPHA:654
9319	TRIP13	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0100650	Vaginal neoplasm	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0200024	Premature chromatid separation	3/3	OMIM:617598
9319	TRIP13	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0005580	Duplication of renal pelvis	HP:0040282	ORPHA:654
9319	TRIP13	HP:0000639	Nystagmus	1/6	OMIM:617598
9319	TRIP13	HP:0001945	Fever	HP:0040283	ORPHA:654
9319	TRIP13	HP:0001903	Anemia	HP:0040283	ORPHA:654
9319	TRIP13	HP:0001901	Polycythemia	HP:0040283	ORPHA:654
9319	TRIP13	HP:0004322	Short stature	HP:0040281	ORPHA:1052
9319	TRIP13	HP:0004322	Short stature	1/1	OMIM:617598
9319	TRIP13	HP:0003003	Colon cancer	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:654
9319	TRIP13	HP:0011463	Childhood onset	3/6	OMIM:617598
9319	TRIP13	HP:0011462	Young adult onset	5/5	OMIM:619011
9319	TRIP13	HP:0000929	Abnormal skull morphology	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0012871	Varicocele	HP:0040283	ORPHA:654
9319	TRIP13	HP:0000822	Hypertension	HP:0040283	ORPHA:654
9319	TRIP13	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0000286	Epicanthus	HP:0040281	ORPHA:1052
9319	TRIP13	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0002804	Arthrogryposis multiplex congenita	1/6	OMIM:617598
9319	TRIP13	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:654
9319	TRIP13	HP:0000252	Microcephaly	HP:0040282	ORPHA:1052
9319	TRIP13	HP:0000252	Microcephaly	3/6	OMIM:617598
9319	TRIP13	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:1052
9319	TRIP13	HP:0002859	Rhabdomyosarcoma	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0001528	Hemihypertrophy	HP:0040283	ORPHA:654
9319	TRIP13	HP:0001541	Ascites	HP:0040281	ORPHA:1052
9319	TRIP13	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0001510	Growth delay	2/6	OMIM:617598
9319	TRIP13	HP:0001510	Growth delay	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0031500	Abdominal mass	HP:0040281	ORPHA:654
9319	TRIP13	HP:0031516	Oocyte arrest at metaphase I	3/4	OMIM:619011
9319	TRIP13	HP:0002907	Microscopic hematuria	HP:0040283	ORPHA:654
9319	TRIP13	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0000369	Low-set ears	1/6	OMIM:617598
9319	TRIP13	HP:0000340	Sloping forehead	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0001682	Subvalvular aortic stenosis	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0000348	High forehead	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0000347	Micrognathia	HP:0040281	ORPHA:1052
9319	TRIP13	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0000325	Triangular face	HP:0040282	ORPHA:1052
9319	TRIP13	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0007957	Corneal opacity	HP:0040281	ORPHA:1052
9319	TRIP13	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:1052
9319	TRIP13	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0000490	Deeply set eye	1/6	OMIM:617598
9319	TRIP13	HP:0000457	Depressed nasal ridge	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0000444	Convex nasal ridge	1/6	OMIM:617598
9319	TRIP13	HP:0000445	Wide nose	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0006721	Acute lymphoblastic leukemia	HP:0040283	ORPHA:1052
9319	TRIP13	HP:0000518	Cataract	HP:0040281	ORPHA:1052
9319	TRIP13	HP:0000510	Rod-cone dystrophy	1/6	OMIM:617598
9319	TRIP13	HP:0000526	Aniridia	HP:0040283	ORPHA:654
9319	TRIP13	HP:0001824	Weight loss	HP:0040283	ORPHA:654
9319	TRIP13	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1052
9319	TRIP13	HP:0000501	Glaucoma	HP:0040281	ORPHA:1052
9319	TRIP13	HP:0012587	Macroscopic hematuria	HP:0040282	ORPHA:654
9319	TRIP13	HP:0000568	Microphthalmia	HP:0040281	ORPHA:1052
9320	TRIP12	HP:0001270	Motor delay	7/8	OMIM:617752
9320	TRIP12	HP:0001250	Seizure	4/19	OMIM:617752
9320	TRIP12	HP:0001252	Hypotonia	1/2	OMIM:617752
9320	TRIP12	HP:0001249	Intellectual disability	22/22	OMIM:617752
9320	TRIP12	HP:0001263	Global developmental delay	20/20	OMIM:617752
9320	TRIP12	HP:0000006	Autosomal dominant inheritance	-	OMIM:617752
9320	TRIP12	HP:0000154	Wide mouth	6/16	OMIM:617752
9320	TRIP12	HP:0002714	Downturned corners of mouth	4/8	OMIM:617752
9320	TRIP12	HP:0002263	Exaggerated cupid's bow	4/16	OMIM:617752
9320	TRIP12	HP:0009748	Large earlobe	6/16	OMIM:617752
9320	TRIP12	HP:0009765	Low hanging columella	4/16	OMIM:617752
9320	TRIP12	HP:0000752	Hyperactivity	1/9	OMIM:617752
9320	TRIP12	HP:0000739	Anxiety	1/9	OMIM:617752
9320	TRIP12	HP:0000750	Delayed speech and language development	19/21	OMIM:617752
9320	TRIP12	HP:0000718	Aggressive behavior	3/9	OMIM:617752
9320	TRIP12	HP:0000729	Autistic behavior	6/8	OMIM:617752
9320	TRIP12	HP:0003196	Short nose	2/16	OMIM:617752
9320	TRIP12	HP:0045025	Narrow palpebral fissure	4/7	OMIM:617752
9320	TRIP12	HP:0000286	Epicanthus	4/16	OMIM:617752
9320	TRIP12	HP:0000268	Dolichocephaly	1/9	OMIM:617752
9320	TRIP12	HP:0030084	Clinodactyly	-	OMIM:617752
9320	TRIP12	HP:0000252	Microcephaly	2/17	OMIM:617752
9320	TRIP12	HP:0000248	Brachycephaly	1/9	OMIM:617752
9320	TRIP12	HP:0000219	Thin upper lip vermilion	3/16	OMIM:617752
9320	TRIP12	HP:0000218	High palate	-	OMIM:617752
9320	TRIP12	HP:0001513	Obesity	6/18	OMIM:617752
9320	TRIP12	HP:0000369	Low-set ears	3/16	OMIM:617752
9320	TRIP12	HP:0000340	Sloping forehead	1/9	OMIM:617752
9320	TRIP12	HP:0000343	Long philtrum	2/16	OMIM:617752
9320	TRIP12	HP:0000319	Smooth philtrum	2/8	OMIM:617752
9320	TRIP12	HP:0000316	Hypertelorism	2/16	OMIM:617752
9320	TRIP12	HP:0000322	Short philtrum	1/8	OMIM:617752
9320	TRIP12	HP:0000307	Pointed chin	2/8	OMIM:617752
9320	TRIP12	HP:0005280	Depressed nasal bridge	1/16	OMIM:617752
9320	TRIP12	HP:0000486	Strabismus	-	OMIM:617752
9320	TRIP12	HP:0000463	Anteverted nares	2/16	OMIM:617752
9320	TRIP12	HP:0001852	Sandal gap	-	OMIM:617752
9320	TRIP12	HP:0000582	Upslanted palpebral fissure	-	OMIM:617752
9321	TRIP11	HP:0001156	Brachydactyly	10/10	OMIM:184260
9321	TRIP11	HP:0010963	Absence of stomach bubble on fetal sonography	1/1	OMIM:200600
9321	TRIP11	HP:0010880	Increased nuchal translucency	1/1	OMIM:200600
9321	TRIP11	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9321	TRIP11	HP:0001293	Cranial nerve compression	-	OMIM:131300
9321	TRIP11	HP:0001270	Motor delay	-	OMIM:184260
9321	TRIP11	HP:0001252	Hypotonia	2/7	OMIM:615777
9321	TRIP11	HP:0001249	Intellectual disability	5/7	OMIM:615777
9321	TRIP11	HP:0001263	Global developmental delay	-	OMIM:615777
9321	TRIP11	HP:6000653	Crescent-shaped iliac bone	-	OMIM:200600
9321	TRIP11	HP:6000654	Abnormal ischium ossification	2/3	OMIM:200600
9321	TRIP11	HP:0001216	Delayed ossification of carpal bones	-	OMIM:184260
9321	TRIP11	HP:0002515	Waddling gait	54/102	OMIM:131300
9321	TRIP11	HP:0003826	Stillbirth	-	OMIM:200600
9321	TRIP11	HP:0000090	Nephronophthisis	1/10	OMIM:184260
9321	TRIP11	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:166272
9321	TRIP11	HP:0001382	Joint hypermobility	-	OMIM:184260
9321	TRIP11	HP:0001382	Joint hypermobility	-	OMIM:615777
9321	TRIP11	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9321	TRIP11	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9321	TRIP11	HP:0008845	Mesomelic short stature	-	OMIM:184260
9321	TRIP11	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9321	TRIP11	HP:0001324	Muscle weakness	40/96	OMIM:131300
9321	TRIP11	HP:0002657	Spondylometaphyseal dysplasia	10/10	OMIM:184260
9321	TRIP11	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9321	TRIP11	HP:0002673	Coxa valga	HP:0040282	ORPHA:166272
9321	TRIP11	HP:0000007	Autosomal recessive inheritance	-	OMIM:184260
9321	TRIP11	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9321	TRIP11	HP:0000007	Autosomal recessive inheritance	-	OMIM:200600
9321	TRIP11	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9321	TRIP11	HP:0002650	Scoliosis	HP:0040282	ORPHA:166272
9321	TRIP11	HP:0002650	Scoliosis	12/14	OMIM:131300
9321	TRIP11	HP:0002650	Scoliosis	5/10	OMIM:184260
9321	TRIP11	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9321	TRIP11	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9321	TRIP11	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9321	TRIP11	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9321	TRIP11	HP:0000175	Cleft palate	2/7	OMIM:615777
9321	TRIP11	HP:0000113	Polycystic kidney dysplasia	-	OMIM:184260
9321	TRIP11	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:93299
9321	TRIP11	HP:0002007	Frontal bossing	HP:0040283	ORPHA:166272
9321	TRIP11	HP:0002007	Frontal bossing	HP:0040281	ORPHA:93299
9321	TRIP11	HP:0003336	Abnormal enchondral ossification	HP:0040281	ORPHA:93299
9321	TRIP11	HP:0004625	Biconvex vertebral bodies	-	OMIM:184260
9321	TRIP11	HP:0100541	Femoral hernia	HP:0040282	ORPHA:93299
9321	TRIP11	HP:0002089	Pulmonary hypoplasia	4/10	OMIM:184260
9321	TRIP11	HP:0002089	Pulmonary hypoplasia	1/1	OMIM:200600
9321	TRIP11	HP:0002098	Respiratory distress	-	OMIM:184260
9321	TRIP11	HP:0002098	Respiratory distress	HP:0040283	ORPHA:166272
9321	TRIP11	HP:0003388	Easy fatigability	36/76	OMIM:131300
9321	TRIP11	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9321	TRIP11	HP:0004606	Unossified vertebral bodies	-	OMIM:200600
9321	TRIP11	HP:0003417	Coronal cleft vertebrae	-	OMIM:184260
9321	TRIP11	HP:0010585	Small epiphyses	-	OMIM:184260
9321	TRIP11	HP:0010579	Cone-shaped epiphysis	HP:0040281	ORPHA:166272
9321	TRIP11	HP:0010582	Irregular epiphyses	-	OMIM:184260
9321	TRIP11	HP:0002205	Recurrent respiratory infections	1/10	OMIM:184260
9321	TRIP11	HP:0010675	Abnormal foot bone ossification	-	OMIM:200600
9321	TRIP11	HP:0200083	Severe limb shortening	1/1	OMIM:200600
9321	TRIP11	HP:0010660	Abnormal hand bone ossification	-	OMIM:200600
9321	TRIP11	HP:0003510	Severe short stature	7/7	OMIM:615777
9321	TRIP11	HP:0003510	Severe short stature	HP:0040281	ORPHA:93299
9321	TRIP11	HP:0003521	Disproportionate short-trunk short stature	1/1	OMIM:200600
9321	TRIP11	HP:0002315	Headache	-	OMIM:131300
9321	TRIP11	HP:0004976	Knee dislocation	6/7	OMIM:615777
9321	TRIP11	HP:0010808	Protruding tongue	1/1	OMIM:200600
9321	TRIP11	HP:0009803	Short phalanx of finger	-	OMIM:184260
9321	TRIP11	HP:0009803	Short phalanx of finger	-	OMIM:615777
9321	TRIP11	HP:0009763	Limb pain	63/92	OMIM:131300
9321	TRIP11	HP:0003621	Juvenile onset	-	OMIM:131300
9321	TRIP11	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9321	TRIP11	HP:0004279	Short palm	HP:0040281	ORPHA:166272
9321	TRIP11	HP:0004279	Short palm	HP:0040282	ORPHA:93299
9321	TRIP11	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9321	TRIP11	HP:6001056	Out-toeing	-	OMIM:131300
9321	TRIP11	HP:0000651	Diplopia	-	OMIM:131300
9321	TRIP11	HP:0001956	Truncal obesity	2/7	OMIM:615777
9321	TRIP11	HP:0001903	Anemia	HP:0040283	OMIM:131300
9321	TRIP11	HP:0010049	Short metacarpal	-	OMIM:615777
9321	TRIP11	HP:0010049	Short metacarpal	-	OMIM:184260
9321	TRIP11	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:166272
9321	TRIP11	HP:0000684	Delayed eruption of teeth	-	OMIM:184260
9321	TRIP11	HP:0000678	Dental crowding	-	OMIM:615777
9321	TRIP11	HP:0000670	Carious teeth	-	OMIM:131300
9321	TRIP11	HP:0011304	Broad thumb	2/7	OMIM:615777
9321	TRIP11	HP:0000668	Hypodontia	-	OMIM:615777
9321	TRIP11	HP:0000664	Synophrys	-	OMIM:615777
9321	TRIP11	HP:0004322	Short stature	9/10	OMIM:184260
9321	TRIP11	HP:0004322	Short stature	HP:0040281	ORPHA:166272
9321	TRIP11	HP:0004331	Decreased skull ossification	1/1	OMIM:200600
9321	TRIP11	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:93299
9321	TRIP11	HP:0004396	Poor appetite	-	OMIM:131300
9321	TRIP11	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9321	TRIP11	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9321	TRIP11	HP:0034198	Second trimester onset	1/1	OMIM:200600
9321	TRIP11	HP:0003016	Metaphyseal widening	-	OMIM:184260
9321	TRIP11	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9321	TRIP11	HP:0003026	Short long bone	7/7	OMIM:615777
9321	TRIP11	HP:0003026	Short long bone	-	OMIM:184260
9321	TRIP11	HP:0003027	Mesomelia	-	OMIM:184260
9321	TRIP11	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9321	TRIP11	HP:0003021	Metaphyseal cupping	-	OMIM:184260
9321	TRIP11	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9321	TRIP11	HP:0000768	Pectus carinatum	-	OMIM:184260
9321	TRIP11	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9321	TRIP11	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9321	TRIP11	HP:0000750	Delayed speech and language development	-	OMIM:615777
9321	TRIP11	HP:0000703	Dentinogenesis imperfecta	HP:0040281	ORPHA:166272
9321	TRIP11	HP:0000703	Dentinogenesis imperfecta	7/10	OMIM:184260
9321	TRIP11	HP:0011461	Fetal onset	7/7	OMIM:615777
9321	TRIP11	HP:0000774	Narrow chest	-	OMIM:184260
9321	TRIP11	HP:0000774	Narrow chest	HP:0040281	ORPHA:93299
9321	TRIP11	HP:0000774	Narrow chest	2/7	OMIM:615777
9321	TRIP11	HP:0000774	Narrow chest	HP:0040281	ORPHA:166272
9321	TRIP11	HP:0000774	Narrow chest	1/1	OMIM:200600
9321	TRIP11	HP:0000773	Short ribs	1/1	OMIM:200600
9321	TRIP11	HP:0005716	Lethal skeletal dysplasia	HP:0040281	ORPHA:93299
9321	TRIP11	HP:0003196	Short nose	HP:0040283	ORPHA:166272
9321	TRIP11	HP:0003196	Short nose	HP:0040281	ORPHA:93299
9321	TRIP11	HP:0003196	Short nose	1/1	OMIM:200600
9321	TRIP11	HP:0000916	Broad clavicles	-	OMIM:200600
9321	TRIP11	HP:0000926	Platyspondyly	-	OMIM:184260
9321	TRIP11	HP:0000926	Platyspondyly	1/7	OMIM:615777
9321	TRIP11	HP:0000926	Platyspondyly	HP:0040281	ORPHA:166272
9321	TRIP11	HP:0003175	Hypoplastic ischia	-	OMIM:200600
9321	TRIP11	HP:0003180	Flat acetabular roof	-	OMIM:615777
9321	TRIP11	HP:0003180	Flat acetabular roof	-	OMIM:184260
9321	TRIP11	HP:0000904	Flaring of rib cage	1/1	OMIM:200600
9321	TRIP11	HP:0004482	Relative macrocephaly	-	OMIM:184260
9321	TRIP11	HP:0004482	Relative macrocephaly	-	OMIM:615777
9321	TRIP11	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9321	TRIP11	HP:0000882	Hypoplastic scapulae	-	OMIM:200600
9321	TRIP11	HP:0000823	Delayed puberty	-	OMIM:131300
9321	TRIP11	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	-	OMIM:184260
9321	TRIP11	HP:0000894	Short clavicles	-	OMIM:200600
9321	TRIP11	HP:0000894	Short clavicles	-	OMIM:615777
9321	TRIP11	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9321	TRIP11	HP:0003278	Square pelvis bone	HP:0040282	ORPHA:166272
9321	TRIP11	HP:0003270	Abdominal distention	HP:0040281	ORPHA:93299
9321	TRIP11	HP:0004590	Hypoplastic sacrum	1/1	OMIM:200600
9321	TRIP11	HP:0010306	Short thorax	1/1	OMIM:200600
9321	TRIP11	HP:0010306	Short thorax	HP:0040281	ORPHA:93299
9321	TRIP11	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9321	TRIP11	HP:0000939	Osteoporosis	-	OMIM:184260
9321	TRIP11	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:166272
9321	TRIP11	HP:0000286	Epicanthus	1/7	OMIM:615777
9321	TRIP11	HP:0000280	Coarse facial features	2/7	OMIM:615777
9321	TRIP11	HP:0000278	Retrognathia	HP:0040283	ORPHA:166272
9321	TRIP11	HP:0001591	Bell-shaped thorax	1/1	OMIM:200600
9321	TRIP11	HP:0000262	Turricephaly	1/1	OMIM:200600
9321	TRIP11	HP:0000256	Macrocephaly	10/10	OMIM:184260
9321	TRIP11	HP:0000256	Macrocephaly	HP:0040281	ORPHA:93299
9321	TRIP11	HP:0000275	Narrow face	-	OMIM:184260
9321	TRIP11	HP:0002816	Genu recurvatum	-	OMIM:184260
9321	TRIP11	HP:0002827	Hip dislocation	3/7	OMIM:615777
9321	TRIP11	HP:0000252	Microcephaly	-	OMIM:615777
9321	TRIP11	HP:0001552	Barrel-shaped chest	-	OMIM:200600
9321	TRIP11	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:93299
9321	TRIP11	HP:0001561	Polyhydramnios	-	OMIM:200600
9321	TRIP11	HP:0002857	Genu valgum	-	OMIM:131300
9321	TRIP11	HP:0001522	Death in infancy	3/10	OMIM:184260
9321	TRIP11	HP:0001522	Death in infancy	HP:0040283	ORPHA:166272
9321	TRIP11	HP:0002869	Flared iliac wing	-	OMIM:184260
9321	TRIP11	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:93299
9321	TRIP11	HP:0001538	Protuberant abdomen	1/1	OMIM:200600
9321	TRIP11	HP:0001533	Slender build	-	OMIM:131300
9321	TRIP11	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9321	TRIP11	HP:0007807	Optic nerve compression	-	OMIM:131300
9321	TRIP11	HP:0012368	Flat face	7/7	OMIM:615777
9321	TRIP11	HP:0012368	Flat face	1/1	OMIM:200600
9321	TRIP11	HP:0012368	Flat face	HP:0040281	ORPHA:93299
9321	TRIP11	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9321	TRIP11	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:166272
9321	TRIP11	HP:0006488	Bowing of the arm	1/1	OMIM:200600
9321	TRIP11	HP:0006489	Abnormal femoral metaphysis morphology	-	OMIM:200600
9321	TRIP11	HP:0000365	Hearing impairment	10/67	OMIM:131300
9321	TRIP11	HP:0000369	Low-set ears	1/1	OMIM:200600
9321	TRIP11	HP:0000343	Long philtrum	-	OMIM:184260
9321	TRIP11	HP:0000343	Long philtrum	HP:0040281	ORPHA:93299
9321	TRIP11	HP:0000343	Long philtrum	1/7	OMIM:615777
9321	TRIP11	HP:0011001	Increased bone mineral density	-	OMIM:131300
9321	TRIP11	HP:0000347	Micrognathia	HP:0040281	ORPHA:93299
9321	TRIP11	HP:0002983	Micromelia	HP:0040281	ORPHA:166272
9321	TRIP11	HP:0002983	Micromelia	1/10	OMIM:184260
9321	TRIP11	HP:0002983	Micromelia	1/1	OMIM:200600
9321	TRIP11	HP:0002983	Micromelia	HP:0040281	ORPHA:93299
9321	TRIP11	HP:0002979	Bowing of the legs	1/1	OMIM:200600
9321	TRIP11	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:166272
9321	TRIP11	HP:0000311	Round face	2/7	OMIM:615777
9321	TRIP11	HP:0002984	Hypoplasia of the radius	-	OMIM:200600
9321	TRIP11	HP:0002970	Genu varum	-	OMIM:184260
9321	TRIP11	HP:0002970	Genu varum	-	OMIM:615777
9321	TRIP11	HP:0000303	Mandibular prognathia	-	OMIM:131300
9321	TRIP11	HP:0006640	Multiple rib fractures	1/1	OMIM:200600
9321	TRIP11	HP:0006640	Multiple rib fractures	HP:0040282	ORPHA:93299
9321	TRIP11	HP:0005281	Hypoplastic nasal bridge	1/1	OMIM:200600
9321	TRIP11	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:166272
9321	TRIP11	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9321	TRIP11	HP:0005280	Depressed nasal bridge	1/1	OMIM:200600
9321	TRIP11	HP:0000486	Strabismus	HP:0040283	ORPHA:166272
9321	TRIP11	HP:0000476	Cystic hygroma	HP:0040283	ORPHA:93299
9321	TRIP11	HP:0000463	Anteverted nares	HP:0040281	ORPHA:93299
9321	TRIP11	HP:0000463	Anteverted nares	-	OMIM:200600
9321	TRIP11	HP:0001789	Hydrops fetalis	-	OMIM:200600
9321	TRIP11	HP:0001789	Hydrops fetalis	HP:0040281	ORPHA:93299
9321	TRIP11	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:93299
9321	TRIP11	HP:0000470	Short neck	HP:0040281	ORPHA:93299
9321	TRIP11	HP:0000470	Short neck	1/7	OMIM:615777
9321	TRIP11	HP:0000470	Short neck	1/1	OMIM:200600
9321	TRIP11	HP:0001773	Short foot	HP:0040282	ORPHA:93299
9321	TRIP11	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9321	TRIP11	HP:0001763	Pes planus	1/7	OMIM:615777
9321	TRIP11	HP:0001762	Talipes equinovarus	1/1	OMIM:200600
9321	TRIP11	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040281	ORPHA:93299
9321	TRIP11	HP:0001840	Metatarsus adductus	-	OMIM:615777
9321	TRIP11	HP:0000520	Proptosis	2/4	OMIM:131300
9321	TRIP11	HP:0000520	Proptosis	7/7	OMIM:615777
9321	TRIP11	HP:0000592	Blue sclerae	2/7	OMIM:615777
9321	TRIP11	HP:0011220	Prominent forehead	-	OMIM:184260
9321	TRIP11	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9321	TRIP11	HP:0012514	Lower limb pain	4/4	OMIM:131300
9325	TRIP4	HP:0003789	Minicore myopathy	HP:0040282	ORPHA:486815
9325	TRIP4	HP:0007269	Spinal muscular atrophy	-	OMIM:616866
9325	TRIP4	HP:0002421	Poor head control	HP:0040282	ORPHA:486815
9325	TRIP4	HP:0003700	Generalized amyotrophy	-	OMIM:616866
9325	TRIP4	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:486815
9325	TRIP4	HP:0001290	Generalized hypotonia	-	OMIM:616866
9325	TRIP4	HP:0001270	Motor delay	4/4	OMIM:617066
9325	TRIP4	HP:0001270	Motor delay	HP:0040282	ORPHA:486815
9325	TRIP4	HP:0001284	Areflexia	2/2	OMIM:616866
9325	TRIP4	HP:0001252	Hypotonia	4/4	OMIM:617066
9325	TRIP4	HP:0001263	Global developmental delay	4/4	OMIM:616866
9325	TRIP4	HP:0002540	Inability to walk	4/4	OMIM:617066
9325	TRIP4	HP:0032341	Reduced forced vital capacity	2/2	OMIM:617066
9325	TRIP4	HP:0001371	Flexion contracture	-	OMIM:616866
9325	TRIP4	HP:0001382	Joint hypermobility	4/4	OMIM:617066
9325	TRIP4	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:486815
9325	TRIP4	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:486815
9325	TRIP4	HP:0007502	Follicular hyperkeratosis	4/4	OMIM:617066
9325	TRIP4	HP:0007502	Follicular hyperkeratosis	HP:0040281	ORPHA:486815
9325	TRIP4	HP:0001324	Muscle weakness	4/4	OMIM:616866
9325	TRIP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:617066
9325	TRIP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:616866
9325	TRIP4	HP:0002650	Scoliosis	3/4	OMIM:617066
9325	TRIP4	HP:0002650	Scoliosis	HP:0040282	ORPHA:486815
9325	TRIP4	HP:0002643	Neonatal respiratory distress	5/5	OMIM:616866
9325	TRIP4	HP:0000160	Narrow mouth	2/4	OMIM:616866
9325	TRIP4	HP:0002747	Respiratory insufficiency due to muscle weakness	4/4	OMIM:617066
9325	TRIP4	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040281	ORPHA:486815
9325	TRIP4	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:486815
9325	TRIP4	HP:0003327	Axial muscle weakness	4/4	OMIM:617066
9325	TRIP4	HP:0002015	Dysphagia	4/4	OMIM:616866
9325	TRIP4	HP:0003306	Spinal rigidity	2/4	OMIM:617066
9325	TRIP4	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:486815
9325	TRIP4	HP:0002089	Pulmonary hypoplasia	2/4	OMIM:616866
9325	TRIP4	HP:0008180	Mildly elevated creatine kinase	HP:0040283	ORPHA:486815
9325	TRIP4	HP:0003477	Peripheral axonal neuropathy	-	OMIM:616866
9325	TRIP4	HP:0003447	Axonal loss	-	OMIM:616866
9325	TRIP4	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:486815
9325	TRIP4	HP:0003577	Congenital onset	3/4	OMIM:617066
9325	TRIP4	HP:0003577	Congenital onset	-	OMIM:616866
9325	TRIP4	HP:0003560	Muscular dystrophy	4/4	OMIM:617066
9325	TRIP4	HP:0003557	Increased variability in muscle fiber diameter	3/3	OMIM:616866
9325	TRIP4	HP:0003557	Increased variability in muscle fiber diameter	3/3	OMIM:617066
9325	TRIP4	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:486815
9325	TRIP4	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:486815
9325	TRIP4	HP:0010647	Abnormal elasticity of skin	HP:0040282	ORPHA:486815
9325	TRIP4	HP:0011968	Feeding difficulties	3/4	OMIM:617066
9325	TRIP4	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:486815
9325	TRIP4	HP:0003690	Limb muscle weakness	HP:0040282	ORPHA:486815
9325	TRIP4	HP:0003687	Centrally nucleated skeletal muscle fibers	3/3	OMIM:617066
9325	TRIP4	HP:0003687	Centrally nucleated skeletal muscle fibers	HP:0040282	ORPHA:486815
9325	TRIP4	HP:0003623	Neonatal onset	1/4	OMIM:617066
9325	TRIP4	HP:0006829	Severe muscular hypotonia	5/5	OMIM:616866
9325	TRIP4	HP:0034045	Angulated muscle fibers	1/3	OMIM:617066
9325	TRIP4	HP:0000767	Pectus excavatum	2/4	OMIM:617066
9325	TRIP4	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:486815
9325	TRIP4	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:486815
9325	TRIP4	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040282	ORPHA:486815
9325	TRIP4	HP:0009110	Diaphragmatic eventration	-	OMIM:616866
9325	TRIP4	HP:0000823	Delayed puberty	HP:0040283	ORPHA:486815
9325	TRIP4	HP:0005855	Multiple prenatal fractures	3/4	OMIM:616866
9325	TRIP4	HP:0034392	Joint contracture	2/4	OMIM:617066
9325	TRIP4	HP:0000958	Dry skin	4/4	OMIM:617066
9325	TRIP4	HP:0000958	Dry skin	HP:0040282	ORPHA:486815
9325	TRIP4	HP:0000966	Hypohidrosis	3/6	OMIM:616866
9325	TRIP4	HP:0008081	Pes valgus	2/3	OMIM:617066
9325	TRIP4	HP:0008081	Pes valgus	HP:0040283	ORPHA:486815
9325	TRIP4	HP:0100295	Muscle fiber atrophy	3/3	OMIM:616866
9325	TRIP4	HP:0100297	Increased endomysial connective tissue	3/3	OMIM:617066
9325	TRIP4	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:486815
9325	TRIP4	HP:0002804	Arthrogryposis multiplex congenita	6/6	OMIM:616866
9325	TRIP4	HP:0000218	High palate	1/4	OMIM:617066
9325	TRIP4	HP:0000218	High palate	HP:0040282	ORPHA:486815
9325	TRIP4	HP:0000218	High palate	3/4	OMIM:616866
9325	TRIP4	HP:0001562	Oligohydramnios	3/4	OMIM:616866
9325	TRIP4	HP:0001558	Decreased fetal movement	4/4	OMIM:616866
9325	TRIP4	HP:0025502	Overweight	HP:0040283	ORPHA:486815
9325	TRIP4	HP:0001612	Weak cry	HP:0040283	ORPHA:486815
9325	TRIP4	HP:0001684	Secundum atrial septal defect	2/6	OMIM:616866
9325	TRIP4	HP:0000316	Hypertelorism	3/4	OMIM:616866
9325	TRIP4	HP:0001643	Patent ductus arteriosus	3/4	OMIM:616866
9325	TRIP4	HP:0001655	Patent foramen ovale	1/4	OMIM:616866
9325	TRIP4	HP:0001622	Premature birth	2/4	OMIM:616866
9325	TRIP4	HP:0000308	Microretrognathia	4/4	OMIM:616866
9325	TRIP4	HP:0001635	Congestive heart failure	1/4	OMIM:616866
9325	TRIP4	HP:0001638	Cardiomyopathy	2/4	OMIM:616866
9325	TRIP4	HP:0000467	Neck muscle weakness	4/4	OMIM:617066
9325	TRIP4	HP:0000467	Neck muscle weakness	HP:0040282	ORPHA:486815
9326	ZNHIT3	HP:0001182	Tapered finger	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0001182	Tapered finger	-	OMIM:260565
9326	ZNHIT3	HP:0007281	Developmental stagnation	-	OMIM:260565
9326	ZNHIT3	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0001290	Generalized hypotonia	-	OMIM:260565
9326	ZNHIT3	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:2836
9326	ZNHIT3	HP:0001272	Cerebellar atrophy	-	OMIM:260565
9326	ZNHIT3	HP:0001250	Seizure	-	OMIM:260565
9326	ZNHIT3	HP:0001250	Seizure	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0001263	Global developmental delay	-	OMIM:260565
9326	ZNHIT3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0007366	Atrophy/Degeneration affecting the brainstem	HP:0040282	ORPHA:2836
9326	ZNHIT3	HP:0002521	Hypsarrhythmia	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0002521	Hypsarrhythmia	-	OMIM:260565
9326	ZNHIT3	HP:0002529	Neuronal loss in central nervous system	-	OMIM:260565
9326	ZNHIT3	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:2836
9326	ZNHIT3	HP:0001371	Flexion contracture	HP:0040282	ORPHA:2836
9326	ZNHIT3	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0001347	Hyperreflexia	-	OMIM:260565
9326	ZNHIT3	HP:0008872	Feeding difficulties in infancy	-	OMIM:260565
9326	ZNHIT3	HP:0007514	Edema of the dorsum of hands	-	OMIM:260565
9326	ZNHIT3	HP:0012098	Edema of the dorsum of feet	-	OMIM:260565
9326	ZNHIT3	HP:0000007	Autosomal recessive inheritance	-	OMIM:260565
9326	ZNHIT3	HP:0001336	Myoclonus	-	OMIM:260565
9326	ZNHIT3	HP:0001302	Pachygyria	-	OMIM:260565
9326	ZNHIT3	HP:0000194	Open mouth	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0000194	Open mouth	-	OMIM:260565
9326	ZNHIT3	HP:0000177	Abnormal upper lip morphology	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0011800	Midface retrusion	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0100540	Palpebral edema	HP:0040282	ORPHA:2836
9326	ZNHIT3	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:260565
9326	ZNHIT3	HP:0003469	Peripheral dysmyelination	-	OMIM:260565
9326	ZNHIT3	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2836
9326	ZNHIT3	HP:0002132	Porencephalic cyst	HP:0040282	ORPHA:2836
9326	ZNHIT3	HP:0002126	Polymicrogyria	-	OMIM:260565
9326	ZNHIT3	HP:0002187	Intellectual disability, profound	-	OMIM:260565
9326	ZNHIT3	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:2836
9326	ZNHIT3	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0002353	EEG abnormality	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0002329	Drowsiness	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0010804	Tented upper lip vermilion	-	OMIM:260565
9326	ZNHIT3	HP:0010741	Pedal edema	HP:0040282	ORPHA:2836
9326	ZNHIT3	HP:0007105	Infantile encephalopathy	-	OMIM:260565
9326	ZNHIT3	HP:0006829	Severe muscular hypotonia	-	OMIM:260565
9326	ZNHIT3	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0000648	Optic atrophy	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0000648	Optic atrophy	-	OMIM:260565
9326	ZNHIT3	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0004422	Biparietal narrowing	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0003196	Short nose	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0003196	Short nose	-	OMIM:260565
9326	ZNHIT3	HP:0000969	Edema	-	OMIM:260565
9326	ZNHIT3	HP:0000286	Epicanthus	-	OMIM:260565
9326	ZNHIT3	HP:0000286	Epicanthus	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0000278	Retrognathia	-	OMIM:260565
9326	ZNHIT3	HP:0000293	Full cheeks	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0000293	Full cheeks	-	OMIM:260565
9326	ZNHIT3	HP:0000272	Malar flattening	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:2836
9326	ZNHIT3	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:2836
9326	ZNHIT3	HP:0000253	Progressive microcephaly	-	OMIM:260565
9326	ZNHIT3	HP:0000252	Microcephaly	HP:0040282	ORPHA:2836
9326	ZNHIT3	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:2836
9326	ZNHIT3	HP:0012398	Peripheral edema	HP:0040282	ORPHA:2836
9326	ZNHIT3	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0000341	Narrow forehead	-	OMIM:260565
9326	ZNHIT3	HP:0007965	Undetectable visual evoked potentials	-	OMIM:260565
9326	ZNHIT3	HP:0000400	Macrotia	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0012469	Infantile spasms	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0000496	Abnormality of eye movement	HP:0040281	ORPHA:2836
9326	ZNHIT3	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2836
9326	ZNHIT3	HP:0000572	Visual loss	HP:0040281	ORPHA:2836
9333	TGM5	HP:0034838	Cleavage at junction of stratum corneum and stratum granulosum	1/1	OMIM:609796
9333	TGM5	HP:0000007	Autosomal recessive inheritance	-	OMIM:609796
9333	TGM5	HP:0007605	Excessive wrinkling of palmar skin	HP:0040283	ORPHA:263534
9333	TGM5	HP:0200034	Papule	HP:0040283	ORPHA:263534
9333	TGM5	HP:0200041	Skin erosion	HP:0040283	ORPHA:263534
9333	TGM5	HP:0008499	High hypermetropia	HP:0040282	ORPHA:263534
9333	TGM5	HP:0010783	Erythema	6/6	OMIM:609796
9333	TGM5	HP:0010783	Erythema	HP:0040282	ORPHA:263534
9333	TGM5	HP:0012733	Macule	HP:0040283	ORPHA:263534
9333	TGM5	HP:0000953	Hyperpigmentation of the skin	HP:0040283	ORPHA:263534
9333	TGM5	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:263534
9333	TGM5	HP:0008064	Ichthyosis	HP:0040282	ORPHA:263534
9333	TGM5	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:263534
9333	TGM5	HP:0040189	Scaling skin	HP:0040282	ORPHA:263534
9333	TGM5	HP:0040189	Scaling skin	6/6	OMIM:609796
9333	TGM5	HP:0001597	Abnormal nail morphology	0/6	OMIM:609796
9333	TGM5	HP:0012393	Allergy	HP:0040282	ORPHA:263534
9338	TCEAL1	HP:0001288	Gait disturbance	6/7	OMIM:301094
9338	TCEAL1	HP:0001250	Seizure	3/7	OMIM:301094
9338	TCEAL1	HP:0001252	Hypotonia	6/6	OMIM:301094
9338	TCEAL1	HP:0001249	Intellectual disability	7/7	OMIM:301094
9338	TCEAL1	HP:0001263	Global developmental delay	7/7	OMIM:301094
9338	TCEAL1	HP:0008897	Postnatal growth retardation	1/7	OMIM:301094
9338	TCEAL1	HP:0410018	Recurrent ear infections	3/7	OMIM:301094
9338	TCEAL1	HP:0001423	X-linked dominant inheritance	-	OMIM:301094
9338	TCEAL1	HP:0002020	Gastroesophageal reflux	1/7	OMIM:301094
9338	TCEAL1	HP:0002061	Lower limb spasticity	1/7	OMIM:301094
9338	TCEAL1	HP:0003593	Infantile onset	7/7	OMIM:301094
9338	TCEAL1	HP:0002205	Recurrent respiratory infections	2/7	OMIM:301094
9338	TCEAL1	HP:0002376	Developmental regression	2/8	OMIM:301094
9338	TCEAL1	HP:0000639	Nystagmus	1/7	OMIM:301094
9338	TCEAL1	HP:0000612	Iris coloboma	1/7	OMIM:301094
9338	TCEAL1	HP:0000733	Motor stereotypy	5/5	OMIM:301094
9338	TCEAL1	HP:0000750	Delayed speech and language development	7/7	OMIM:301094
9338	TCEAL1	HP:0000729	Autistic behavior	4/7	OMIM:301094
9338	TCEAL1	HP:0011471	Gastrostomy tube feeding in infancy	1/7	OMIM:301094
9338	TCEAL1	HP:0011448	Ankle clonus	1/7	OMIM:301094
9338	TCEAL1	HP:0002904	Hyperbilirubinemia	2/7	OMIM:301094
9338	TCEAL1	HP:0000337	Broad forehead	5/7	OMIM:301094
9338	TCEAL1	HP:0000483	Astigmatism	6/7	OMIM:301094
9338	TCEAL1	HP:0000486	Strabismus	4/7	OMIM:301094
9338	TCEAL1	HP:0012450	Chronic constipation	3/7	OMIM:301094
9338	TCEAL1	HP:0000540	Hypermetropia	1/7	OMIM:301094
9342	SNAP29	HP:0010864	Intellectual disability, severe	-	OMIM:609528
9342	SNAP29	HP:0002421	Poor head control	HP:0040281	ORPHA:66631
9342	SNAP29	HP:0002421	Poor head control	7/7	OMIM:609528
9342	SNAP29	HP:0001297	Stroke	HP:0040283	ORPHA:66631
9342	SNAP29	HP:0001271	Polyneuropathy	-	OMIM:609528
9342	SNAP29	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:66631
9342	SNAP29	HP:0001273	Abnormal corpus callosum morphology	-	OMIM:609528
9342	SNAP29	HP:0001284	Areflexia	7/7	OMIM:609528
9342	SNAP29	HP:0001284	Areflexia	HP:0040282	ORPHA:66631
9342	SNAP29	HP:0001250	Seizure	HP:0040283	ORPHA:66631
9342	SNAP29	HP:0001252	Hypotonia	-	OMIM:609528
9342	SNAP29	HP:0001251	Ataxia	HP:0040281	ORPHA:66631
9342	SNAP29	HP:0001249	Intellectual disability	HP:0040281	ORPHA:66631
9342	SNAP29	HP:0001263	Global developmental delay	HP:0040281	ORPHA:66631
9342	SNAP29	HP:0001263	Global developmental delay	7/7	OMIM:609528
9342	SNAP29	HP:0007447	Diffuse palmoplantar hyperkeratosis	HP:0040281	ORPHA:66631
9342	SNAP29	HP:0002539	Cortical dysplasia	4/4	OMIM:609528
9342	SNAP29	HP:0003819	Death in childhood	3/7	OMIM:609528
9342	SNAP29	HP:0000093	Proteinuria	HP:0040283	ORPHA:66631
9342	SNAP29	HP:0000007	Autosomal recessive inheritance	-	OMIM:609528
9342	SNAP29	HP:0001302	Pachygyria	HP:0040282	ORPHA:66631
9342	SNAP29	HP:0001302	Pachygyria	4/4	OMIM:609528
9342	SNAP29	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:66631
9342	SNAP29	HP:0000135	Hypogonadism	HP:0040283	ORPHA:66631
9342	SNAP29	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:66631
9342	SNAP29	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:66631
9342	SNAP29	HP:0002126	Polymicrogyria	4/4	OMIM:609528
9342	SNAP29	HP:0003593	Infantile onset	17/17	OMIM:609528
9342	SNAP29	HP:0011951	Aspiration pneumonia	3/7	OMIM:609528
9342	SNAP29	HP:0009830	Peripheral neuropathy	-	OMIM:609528
9342	SNAP29	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:66631
9342	SNAP29	HP:0006887	Intellectual disability, progressive	-	OMIM:609528
9342	SNAP29	HP:0000648	Optic atrophy	HP:0040282	ORPHA:66631
9342	SNAP29	HP:0004322	Short stature	HP:0040283	ORPHA:66631
9342	SNAP29	HP:0003134	Abnormality of peripheral nerve conduction	HP:0040282	ORPHA:66631
9342	SNAP29	HP:0000982	Palmoplantar keratoderma	7/7	OMIM:609528
9342	SNAP29	HP:0008064	Ichthyosis	HP:0040281	ORPHA:66631
9342	SNAP29	HP:0008064	Ichthyosis	7/7	OMIM:609528
9342	SNAP29	HP:0000276	Long face	7/7	OMIM:609528
9342	SNAP29	HP:0000276	Long face	HP:0040281	ORPHA:66631
9342	SNAP29	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:66631
9342	SNAP29	HP:0007766	Optic disc hypoplasia	-	OMIM:609528
9342	SNAP29	HP:0000253	Progressive microcephaly	7/7	OMIM:609528
9342	SNAP29	HP:0000252	Microcephaly	HP:0040281	ORPHA:66631
9342	SNAP29	HP:0001508	Failure to thrive	7/7	OMIM:609528
9342	SNAP29	HP:0000316	Hypertelorism	HP:0040281	ORPHA:66631
9342	SNAP29	HP:0000316	Hypertelorism	7/7	OMIM:609528
9342	SNAP29	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:66631
9342	SNAP29	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:66631
9342	SNAP29	HP:0000407	Sensorineural hearing impairment	-	OMIM:609528
9342	SNAP29	HP:0000400	Macrotia	HP:0040283	ORPHA:66631
9342	SNAP29	HP:0005280	Depressed nasal bridge	7/7	OMIM:609528
9342	SNAP29	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:66631
9342	SNAP29	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:66631
9342	SNAP29	HP:0000494	Downslanted palpebral fissures	7/7	OMIM:609528
9342	SNAP29	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:66631
9342	SNAP29	HP:0000457	Depressed nasal ridge	HP:0040283	ORPHA:66631
9342	SNAP29	HP:0000431	Wide nasal bridge	7/7	OMIM:609528
9342	SNAP29	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:66631
9342	SNAP29	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:66631
9343	EFTUD2	HP:0001177	Preaxial hand polydactyly	-	OMIM:610536
9343	EFTUD2	HP:0001177	Preaxial hand polydactyly	HP:0040282	ORPHA:79113
9343	EFTUD2	HP:0008609	Abnormal middle ear morphology	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0008551	Microtia	-	OMIM:610536
9343	EFTUD2	HP:0008551	Microtia	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9343	EFTUD2	HP:0001293	Cranial nerve compression	-	OMIM:131300
9343	EFTUD2	HP:0001250	Seizure	HP:0040283	ORPHA:79113
9343	EFTUD2	HP:0001250	Seizure	HP:0040283	OMIM:610536
9343	EFTUD2	HP:0001252	Hypotonia	2/7	OMIM:615777
9343	EFTUD2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0001249	Intellectual disability	5/7	OMIM:615777
9343	EFTUD2	HP:0001263	Global developmental delay	-	OMIM:610536
9343	EFTUD2	HP:0001263	Global developmental delay	-	OMIM:615777
9343	EFTUD2	HP:0001238	Slender finger	-	OMIM:610536
9343	EFTUD2	HP:0002515	Waddling gait	54/102	OMIM:131300
9343	EFTUD2	HP:0001382	Joint hypermobility	-	OMIM:615777
9343	EFTUD2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9343	EFTUD2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9343	EFTUD2	HP:0008872	Feeding difficulties in infancy	-	OMIM:610536
9343	EFTUD2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9343	EFTUD2	HP:0001324	Muscle weakness	40/96	OMIM:131300
9343	EFTUD2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9343	EFTUD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9343	EFTUD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9343	EFTUD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:610536
9343	EFTUD2	HP:0002650	Scoliosis	12/14	OMIM:131300
9343	EFTUD2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9343	EFTUD2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9343	EFTUD2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9343	EFTUD2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9343	EFTUD2	HP:0000191	Accessory oral frenulum	HP:0040282	ORPHA:79113
9343	EFTUD2	HP:0000175	Cleft palate	-	OMIM:610536
9343	EFTUD2	HP:0000175	Cleft palate	2/7	OMIM:615777
9343	EFTUD2	HP:0000175	Cleft palate	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0002032	Esophageal atresia	HP:0040283	OMIM:610536
9343	EFTUD2	HP:0002002	Deep philtrum	-	OMIM:610536
9343	EFTUD2	HP:0011800	Midface retrusion	-	OMIM:610536
9343	EFTUD2	HP:0002098	Respiratory distress	-	OMIM:610536
9343	EFTUD2	HP:0003388	Easy fatigability	36/76	OMIM:131300
9343	EFTUD2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9343	EFTUD2	HP:0009623	Proximal placement of thumb	HP:0040283	OMIM:610536
9343	EFTUD2	HP:0009738	Abnormal antihelix morphology	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0009748	Large earlobe	HP:0040282	ORPHA:79113
9343	EFTUD2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0003510	Severe short stature	7/7	OMIM:615777
9343	EFTUD2	HP:0002315	Headache	-	OMIM:131300
9343	EFTUD2	HP:0004976	Knee dislocation	6/7	OMIM:615777
9343	EFTUD2	HP:0009803	Short phalanx of finger	-	OMIM:615777
9343	EFTUD2	HP:0009763	Limb pain	63/92	OMIM:131300
9343	EFTUD2	HP:0003621	Juvenile onset	-	OMIM:131300
9343	EFTUD2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9343	EFTUD2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9343	EFTUD2	HP:6001056	Out-toeing	-	OMIM:131300
9343	EFTUD2	HP:0000651	Diplopia	-	OMIM:131300
9343	EFTUD2	HP:0001956	Truncal obesity	2/7	OMIM:615777
9343	EFTUD2	HP:0001903	Anemia	HP:0040283	OMIM:131300
9343	EFTUD2	HP:0010049	Short metacarpal	-	OMIM:615777
9343	EFTUD2	HP:0000678	Dental crowding	-	OMIM:615777
9343	EFTUD2	HP:0000670	Carious teeth	-	OMIM:131300
9343	EFTUD2	HP:0011304	Broad thumb	2/7	OMIM:615777
9343	EFTUD2	HP:0000668	Hypodontia	-	OMIM:615777
9343	EFTUD2	HP:0000664	Synophrys	-	OMIM:615777
9343	EFTUD2	HP:0004322	Short stature	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0004322	Short stature	-	OMIM:610536
9343	EFTUD2	HP:0004396	Poor appetite	-	OMIM:131300
9343	EFTUD2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9343	EFTUD2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9343	EFTUD2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9343	EFTUD2	HP:0003026	Short long bone	7/7	OMIM:615777
9343	EFTUD2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9343	EFTUD2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9343	EFTUD2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9343	EFTUD2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9343	EFTUD2	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0000750	Delayed speech and language development	-	OMIM:610536
9343	EFTUD2	HP:0000750	Delayed speech and language development	-	OMIM:615777
9343	EFTUD2	HP:0011461	Fetal onset	7/7	OMIM:615777
9343	EFTUD2	HP:0000774	Narrow chest	2/7	OMIM:615777
9343	EFTUD2	HP:0003196	Short nose	-	OMIM:610536
9343	EFTUD2	HP:0003196	Short nose	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0000926	Platyspondyly	1/7	OMIM:615777
9343	EFTUD2	HP:0003180	Flat acetabular roof	-	OMIM:615777
9343	EFTUD2	HP:0004482	Relative macrocephaly	-	OMIM:615777
9343	EFTUD2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9343	EFTUD2	HP:0000823	Delayed puberty	-	OMIM:131300
9343	EFTUD2	HP:0000894	Short clavicles	-	OMIM:615777
9343	EFTUD2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9343	EFTUD2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9343	EFTUD2	HP:0000286	Epicanthus	HP:0040282	ORPHA:79113
9343	EFTUD2	HP:0000286	Epicanthus	-	OMIM:610536
9343	EFTUD2	HP:0000286	Epicanthus	1/7	OMIM:615777
9343	EFTUD2	HP:0000280	Coarse facial features	2/7	OMIM:615777
9343	EFTUD2	HP:0000272	Malar flattening	-	OMIM:610536
9343	EFTUD2	HP:0000272	Malar flattening	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0002827	Hip dislocation	3/7	OMIM:615777
9343	EFTUD2	HP:0000243	Trigonocephaly	-	OMIM:610536
9343	EFTUD2	HP:0000243	Trigonocephaly	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0000253	Progressive microcephaly	-	OMIM:610536
9343	EFTUD2	HP:0000252	Microcephaly	-	OMIM:610536
9343	EFTUD2	HP:0000252	Microcephaly	-	OMIM:615777
9343	EFTUD2	HP:0002857	Genu valgum	-	OMIM:131300
9343	EFTUD2	HP:0001533	Slender build	-	OMIM:131300
9343	EFTUD2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9343	EFTUD2	HP:0007807	Optic nerve compression	-	OMIM:131300
9343	EFTUD2	HP:0000384	Preauricular skin tag	-	OMIM:610536
9343	EFTUD2	HP:0000384	Preauricular skin tag	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0012368	Flat face	7/7	OMIM:615777
9343	EFTUD2	HP:0000396	Overfolded helix	-	OMIM:610536
9343	EFTUD2	HP:0000396	Overfolded helix	HP:0040282	ORPHA:79113
9343	EFTUD2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9343	EFTUD2	HP:0000365	Hearing impairment	10/67	OMIM:131300
9343	EFTUD2	HP:0000356	Abnormality of the outer ear	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0000369	Low-set ears	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0000369	Low-set ears	-	OMIM:610536
9343	EFTUD2	HP:0000343	Long philtrum	1/7	OMIM:615777
9343	EFTUD2	HP:0011001	Increased bone mineral density	-	OMIM:131300
9343	EFTUD2	HP:0000347	Micrognathia	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0000347	Micrognathia	-	OMIM:610536
9343	EFTUD2	HP:0000311	Round face	2/7	OMIM:615777
9343	EFTUD2	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0001629	Ventricular septal defect	HP:0040283	OMIM:610536
9343	EFTUD2	HP:0002970	Genu varum	-	OMIM:615777
9343	EFTUD2	HP:0001631	Atrial septal defect	-	OMIM:610536
9343	EFTUD2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:79113
9343	EFTUD2	HP:0000303	Mandibular prognathia	-	OMIM:131300
9343	EFTUD2	HP:0005321	Mandibulofacial dysostosis	-	OMIM:610536
9343	EFTUD2	HP:0000405	Conductive hearing impairment	-	OMIM:610536
9343	EFTUD2	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:79113
9343	EFTUD2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9343	EFTUD2	HP:0000494	Downslanted palpebral fissures	-	OMIM:610536
9343	EFTUD2	HP:0000463	Anteverted nares	-	OMIM:610536
9343	EFTUD2	HP:0000470	Short neck	1/7	OMIM:615777
9343	EFTUD2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9343	EFTUD2	HP:0001763	Pes planus	1/7	OMIM:615777
9343	EFTUD2	HP:0000453	Choanal atresia	-	OMIM:610536
9343	EFTUD2	HP:0000413	Atresia of the external auditory canal	-	OMIM:610536
9343	EFTUD2	HP:0000413	Atresia of the external auditory canal	HP:0040282	ORPHA:79113
9343	EFTUD2	HP:0011268	Absent tragus	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0011272	Underdeveloped tragus	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0005484	Secondary microcephaly	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0001840	Metatarsus adductus	-	OMIM:615777
9343	EFTUD2	HP:0000520	Proptosis	2/4	OMIM:131300
9343	EFTUD2	HP:0000520	Proptosis	7/7	OMIM:615777
9343	EFTUD2	HP:0000506	Telecanthus	-	OMIM:610536
9343	EFTUD2	HP:0000506	Telecanthus	HP:0040282	ORPHA:79113
9343	EFTUD2	HP:0000582	Upslanted palpebral fissure	-	OMIM:610536
9343	EFTUD2	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:79113
9343	EFTUD2	HP:0000592	Blue sclerae	2/7	OMIM:615777
9343	EFTUD2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9343	EFTUD2	HP:0012514	Lower limb pain	4/4	OMIM:131300
9354	UBE4A	HP:0010864	Intellectual disability, severe	8/8	OMIM:619639
9354	UBE4A	HP:0001252	Hypotonia	7/8	OMIM:619639
9354	UBE4A	HP:0002540	Inability to walk	5/6	OMIM:619639
9354	UBE4A	HP:0000007	Autosomal recessive inheritance	-	OMIM:619639
9354	UBE4A	HP:0002069	Bilateral tonic-clonic seizure	5/8	OMIM:619639
9354	UBE4A	HP:0002061	Lower limb spasticity	5/8	OMIM:619639
9354	UBE4A	HP:0007018	Attention deficit hyperactivity disorder	2/6	OMIM:619639
9354	UBE4A	HP:0004322	Short stature	3/6	OMIM:619639
9354	UBE4A	HP:0000750	Delayed speech and language development	8/8	OMIM:619639
9354	UBE4A	HP:0000718	Aggressive behavior	2/6	OMIM:619639
9354	UBE4A	HP:0000729	Autistic behavior	2/6	OMIM:619639
9361	LONP1	HP:0009901	Crumpled ear	8/11	OMIM:600373
9361	LONP1	HP:0009901	Crumpled ear	HP:0040281	ORPHA:1458
9361	LONP1	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1458
9361	LONP1	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:79243
9361	LONP1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9361	LONP1	HP:0001293	Cranial nerve compression	-	OMIM:131300
9361	LONP1	HP:0001290	Generalized hypotonia	4/4	OMIM:600373
9361	LONP1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:79243
9361	LONP1	HP:0001270	Motor delay	10/11	OMIM:600373
9361	LONP1	HP:0001250	Seizure	1/4	OMIM:600373
9361	LONP1	HP:0001250	Seizure	HP:0040282	ORPHA:79243
9361	LONP1	HP:0001252	Hypotonia	HP:0040282	ORPHA:1458
9361	LONP1	HP:0001252	Hypotonia	2/8	OMIM:600373
9361	LONP1	HP:0001252	Hypotonia	2/7	OMIM:615777
9361	LONP1	HP:0001252	Hypotonia	HP:0040283	ORPHA:79243
9361	LONP1	HP:0001251	Ataxia	1/7	OMIM:600373
9361	LONP1	HP:0001251	Ataxia	HP:0040283	ORPHA:79243
9361	LONP1	HP:0001249	Intellectual disability	6/9	OMIM:600373
9361	LONP1	HP:0001249	Intellectual disability	5/7	OMIM:615777
9361	LONP1	HP:0001266	Choreoathetosis	1/1	OMIM:600373
9361	LONP1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1458
9361	LONP1	HP:0001263	Global developmental delay	5/8	OMIM:600373
9361	LONP1	HP:0001263	Global developmental delay	-	OMIM:615777
9361	LONP1	HP:0002566	Intestinal malrotation	HP:0040282	ORPHA:2140
9361	LONP1	HP:0002540	Inability to walk	HP:0040283	ORPHA:79243
9361	LONP1	HP:0001216	Delayed ossification of carpal bones	-	OMIM:600373
9361	LONP1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:79243
9361	LONP1	HP:0002515	Waddling gait	54/102	OMIM:131300
9361	LONP1	HP:0500231	Abnormal CSF pyruvate family amino acid concentration	HP:0040281	ORPHA:79243
9361	LONP1	HP:0025361	Abnormal medullary pyramid morphology	HP:0040282	ORPHA:79243
9361	LONP1	HP:0000072	Hydroureter	HP:0040283	ORPHA:1458
9361	LONP1	HP:0001374	Congenital hip dislocation	3/7	OMIM:600373
9361	LONP1	HP:0001374	Congenital hip dislocation	HP:0040282	ORPHA:1458
9361	LONP1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:79243
9361	LONP1	HP:0001382	Joint hypermobility	-	OMIM:615777
9361	LONP1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1458
9361	LONP1	HP:0002682	Broad skull	-	OMIM:600373
9361	LONP1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9361	LONP1	HP:0000028	Cryptorchidism	1/2	OMIM:600373
9361	LONP1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9361	LONP1	HP:0002663	Delayed epiphyseal ossification	7/7	OMIM:600373
9361	LONP1	HP:0001332	Dystonia	HP:0040283	ORPHA:79243
9361	LONP1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9361	LONP1	HP:0001324	Muscle weakness	40/96	OMIM:131300
9361	LONP1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9361	LONP1	HP:0001338	Partial agenesis of the corpus callosum	HP:0040283	ORPHA:79243
9361	LONP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9361	LONP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:600373
9361	LONP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9361	LONP1	HP:0002650	Scoliosis	4/4	OMIM:600373
9361	LONP1	HP:0002650	Scoliosis	HP:0040282	ORPHA:1458
9361	LONP1	HP:0002650	Scoliosis	12/14	OMIM:131300
9361	LONP1	HP:0001321	Cerebellar hypoplasia	2/3	OMIM:600373
9361	LONP1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9361	LONP1	HP:0002643	Neonatal respiratory distress	HP:0040283	ORPHA:79243
9361	LONP1	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040282	ORPHA:1458
9361	LONP1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9361	LONP1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9361	LONP1	HP:6000870	Metaphyseal chevron deformity	-	OMIM:600373
9361	LONP1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9361	LONP1	HP:0000175	Cleft palate	2/7	OMIM:615777
9361	LONP1	HP:0000143	Rectovaginal fistula	2/10	OMIM:600373
9361	LONP1	HP:0012128	Basal ganglia necrosis	HP:0040283	ORPHA:79243
9361	LONP1	HP:0006297	Enamel hypoplasia	2/2	OMIM:600373
9361	LONP1	HP:0002761	Generalized joint hypermobility	-	OMIM:600373
9361	LONP1	HP:0002750	Delayed skeletal maturation	-	OMIM:600373
9361	LONP1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:1458
9361	LONP1	HP:0002719	Recurrent infections	HP:0040283	ORPHA:79243
9361	LONP1	HP:0002023	Anal atresia	3/12	OMIM:600373
9361	LONP1	HP:0002020	Gastroesophageal reflux	2/4	OMIM:600373
9361	LONP1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:79243
9361	LONP1	HP:0002015	Dysphagia	1/8	OMIM:600373
9361	LONP1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:1458
9361	LONP1	HP:0003311	Hypoplasia of the odontoid process	2/2	OMIM:600373
9361	LONP1	HP:0004626	Lumbar scoliosis	-	OMIM:600373
9361	LONP1	HP:0002089	Pulmonary hypoplasia	HP:0040282	ORPHA:2140
9361	LONP1	HP:0030917	Low APGAR score	HP:0040282	ORPHA:79243
9361	LONP1	HP:0002098	Respiratory distress	HP:0040282	ORPHA:2140
9361	LONP1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:79243
9361	LONP1	HP:0002061	Lower limb spasticity	1/8	OMIM:600373
9361	LONP1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:600373
9361	LONP1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:79243
9361	LONP1	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:79243
9361	LONP1	HP:0003388	Easy fatigability	36/76	OMIM:131300
9361	LONP1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9361	LONP1	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:1458
9361	LONP1	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:79243
9361	LONP1	HP:0002119	Ventriculomegaly	-	OMIM:600373
9361	LONP1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:79243
9361	LONP1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:79243
9361	LONP1	HP:0002100	Recurrent aspiration pneumonia	HP:0040283	ORPHA:79243
9361	LONP1	HP:0003417	Coronal cleft vertebrae	4/9	OMIM:600373
9361	LONP1	HP:0003417	Coronal cleft vertebrae	HP:0040281	ORPHA:1458
9361	LONP1	HP:0009623	Proximal placement of thumb	HP:0040283	OMIM:600373
9361	LONP1	HP:0002187	Intellectual disability, profound	HP:0040282	ORPHA:79243
9361	LONP1	HP:0002171	Gliosis	HP:0040282	ORPHA:79243
9361	LONP1	HP:0009556	Absent tibia	1/7	OMIM:600373
9361	LONP1	HP:0008278	Cerebellar cortical atrophy	1/1	OMIM:600373
9361	LONP1	HP:0010577	Absent epiphyses	-	OMIM:600373
9361	LONP1	HP:0010576	Intracranial cystic lesion	HP:0040283	ORPHA:79243
9361	LONP1	HP:0003593	Infantile onset	4/7	OMIM:600373
9361	LONP1	HP:0003577	Congenital onset	4/8	OMIM:600373
9361	LONP1	HP:0003542	Increased circulating pyruvate concentration	0/1	OMIM:600373
9361	LONP1	HP:0003542	Increased circulating pyruvate concentration	HP:0040282	ORPHA:79243
9361	LONP1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:79243
9361	LONP1	HP:0003510	Severe short stature	7/7	OMIM:615777
9361	LONP1	HP:0002340	Caudate atrophy	1/1	OMIM:600373
9361	LONP1	HP:0002350	Cerebellar cyst	HP:0040283	ORPHA:79243
9361	LONP1	HP:0002315	Headache	-	OMIM:131300
9361	LONP1	HP:0004976	Knee dislocation	6/7	OMIM:615777
9361	LONP1	HP:0002329	Drowsiness	HP:0040283	ORPHA:79243
9361	LONP1	HP:0009826	Limb undergrowth	HP:0040283	ORPHA:79243
9361	LONP1	HP:0010818	Generalized tonic seizure	1/8	OMIM:600373
9361	LONP1	HP:0009803	Short phalanx of finger	-	OMIM:600373
9361	LONP1	HP:0009803	Short phalanx of finger	-	OMIM:615777
9361	LONP1	HP:0009763	Limb pain	63/92	OMIM:131300
9361	LONP1	HP:0003621	Juvenile onset	-	OMIM:131300
9361	LONP1	HP:0004902	Congenital lactic acidosis	HP:0040282	ORPHA:79243
9361	LONP1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9361	LONP1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9361	LONP1	HP:0000639	Nystagmus	HP:0040283	ORPHA:1458
9361	LONP1	HP:6001056	Out-toeing	-	OMIM:131300
9361	LONP1	HP:0000651	Diplopia	-	OMIM:131300
9361	LONP1	HP:0000618	Blindness	HP:0040283	ORPHA:79243
9361	LONP1	HP:0001956	Truncal obesity	2/7	OMIM:615777
9361	LONP1	HP:0001903	Anemia	HP:0040283	OMIM:131300
9361	LONP1	HP:0010049	Short metacarpal	-	OMIM:600373
9361	LONP1	HP:0010049	Short metacarpal	-	OMIM:615777
9361	LONP1	HP:0010049	Short metacarpal	HP:0040281	ORPHA:1458
9361	LONP1	HP:0012698	Cerebellar gliosis	HP:0040283	ORPHA:79243
9361	LONP1	HP:0000682	Abnormal dental enamel morphology	HP:0040281	ORPHA:1458
9361	LONP1	HP:0000684	Delayed eruption of teeth	3/7	OMIM:600373
9361	LONP1	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:1458
9361	LONP1	HP:0000678	Dental crowding	-	OMIM:615777
9361	LONP1	HP:0000670	Carious teeth	-	OMIM:131300
9361	LONP1	HP:0011304	Broad thumb	2/7	OMIM:615777
9361	LONP1	HP:0000668	Hypodontia	-	OMIM:615777
9361	LONP1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:79243
9361	LONP1	HP:0000664	Synophrys	-	OMIM:615777
9361	LONP1	HP:0004322	Short stature	HP:0040281	ORPHA:1458
9361	LONP1	HP:0004322	Short stature	7/12	OMIM:600373
9361	LONP1	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:79243
9361	LONP1	HP:0006956	Lateral ventricle dilatation	HP:0040282	ORPHA:79243
9361	LONP1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:2140
9361	LONP1	HP:0004396	Poor appetite	-	OMIM:131300
9361	LONP1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9361	LONP1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9361	LONP1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9361	LONP1	HP:0006999	Basal ganglia gliosis	HP:0040283	ORPHA:79243
9361	LONP1	HP:0003026	Short long bone	7/7	OMIM:615777
9361	LONP1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9361	LONP1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9361	LONP1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9361	LONP1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9361	LONP1	HP:0000750	Delayed speech and language development	-	OMIM:615777
9361	LONP1	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:79243
9361	LONP1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:79243
9361	LONP1	HP:0011461	Fetal onset	7/7	OMIM:615777
9361	LONP1	HP:0000774	Narrow chest	2/7	OMIM:615777
9361	LONP1	HP:0000776	Congenital diaphragmatic hernia	HP:0040281	ORPHA:2140
9361	LONP1	HP:0003112	Abnormal circulating amino acid concentration	0/1	OMIM:600373
9361	LONP1	HP:0003196	Short nose	HP:0040281	ORPHA:1458
9361	LONP1	HP:0000926	Platyspondyly	1/7	OMIM:615777
9361	LONP1	HP:0003177	Squared iliac bones	-	OMIM:600373
9361	LONP1	HP:0003180	Flat acetabular roof	-	OMIM:615777
9361	LONP1	HP:0004482	Relative macrocephaly	-	OMIM:615777
9361	LONP1	HP:0005792	Short humerus	-	OMIM:600373
9361	LONP1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9361	LONP1	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:79243
9361	LONP1	HP:0000884	Prominent sternum	HP:0040282	ORPHA:2140
9361	LONP1	HP:0000823	Delayed puberty	-	OMIM:131300
9361	LONP1	HP:0000894	Short clavicles	-	OMIM:615777
9361	LONP1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9361	LONP1	HP:0100255	Metaphyseal dysplasia	4/4	OMIM:600373
9361	LONP1	HP:0010315	Aplasia/Hypoplasia of the diaphragm	HP:0040282	ORPHA:2140
9361	LONP1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9361	LONP1	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:79243
9361	LONP1	HP:0008081	Pes valgus	2/2	OMIM:600373
9361	LONP1	HP:0000286	Epicanthus	HP:0040281	ORPHA:1458
9361	LONP1	HP:0000286	Epicanthus	1/7	OMIM:615777
9361	LONP1	HP:0000280	Coarse facial features	2/7	OMIM:615777
9361	LONP1	HP:0002827	Hip dislocation	3/7	OMIM:615777
9361	LONP1	HP:0000252	Microcephaly	-	OMIM:615777
9361	LONP1	HP:0000252	Microcephaly	HP:0040283	ORPHA:79243
9361	LONP1	HP:0001561	Polyhydramnios	-	OMIM:600373
9361	LONP1	HP:0002857	Genu valgum	-	OMIM:131300
9361	LONP1	HP:0002857	Genu valgum	9/10	OMIM:600373
9361	LONP1	HP:0001537	Umbilical hernia	1/7	OMIM:600373
9361	LONP1	HP:0001539	Omphalocele	1/4	OMIM:600373
9361	LONP1	HP:0001533	Slender build	-	OMIM:131300
9361	LONP1	HP:0001518	Small for gestational age	HP:0040281	ORPHA:79243
9361	LONP1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9361	LONP1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:79243
9361	LONP1	HP:0007807	Optic nerve compression	-	OMIM:131300
9361	LONP1	HP:0012368	Flat face	7/7	OMIM:600373
9361	LONP1	HP:0012368	Flat face	7/7	OMIM:615777
9361	LONP1	HP:0012368	Flat face	HP:0040281	ORPHA:1458
9361	LONP1	HP:0000396	Overfolded helix	HP:0040281	ORPHA:1458
9361	LONP1	HP:0005242	Extrahepatic biliary duct atresia	HP:0040283	ORPHA:1458
9361	LONP1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9361	LONP1	HP:0001604	Vocal cord paresis	3/4	OMIM:600373
9361	LONP1	HP:0001601	Laryngomalacia	1/7	OMIM:600373
9361	LONP1	HP:0001600	Abnormality of the larynx	HP:0040283	ORPHA:1458
9361	LONP1	HP:0006482	Abnormal dental morphology	HP:0040281	ORPHA:1458
9361	LONP1	HP:0000365	Hearing impairment	10/67	OMIM:131300
9361	LONP1	HP:0000343	Long philtrum	1/7	OMIM:615777
9361	LONP1	HP:0011001	Increased bone mineral density	-	OMIM:131300
9361	LONP1	HP:0000311	Round face	2/7	OMIM:615777
9361	LONP1	HP:0001655	Patent foramen ovale	1/1	OMIM:600373
9361	LONP1	HP:0001629	Ventricular septal defect	-	OMIM:600373
9361	LONP1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:79243
9361	LONP1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:1458
9361	LONP1	HP:0002970	Genu varum	-	OMIM:615777
9361	LONP1	HP:0001631	Atrial septal defect	2/4	OMIM:600373
9361	LONP1	HP:0000303	Mandibular prognathia	-	OMIM:131300
9361	LONP1	HP:0011196	EEG with focal sharp waves	HP:0040282	ORPHA:79243
9361	LONP1	HP:0011193	EEG with focal spikes	HP:0040282	ORPHA:79243
9361	LONP1	HP:0011199	EEG with generalized sharp slow waves	HP:0040282	ORPHA:79243
9361	LONP1	HP:0006695	Atrioventricular canal defect	-	OMIM:600373
9361	LONP1	HP:0000407	Sensorineural hearing impairment	2/11	OMIM:600373
9361	LONP1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:1458
9361	LONP1	HP:0000405	Conductive hearing impairment	3/10	OMIM:600373
9361	LONP1	HP:0005280	Depressed nasal bridge	-	OMIM:600373
9361	LONP1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9361	LONP1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:1458
9361	LONP1	HP:0000486	Strabismus	HP:0040283	ORPHA:1458
9361	LONP1	HP:0012469	Infantile spasms	HP:0040283	ORPHA:79243
9361	LONP1	HP:0000463	Anteverted nares	4/4	OMIM:600373
9361	LONP1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:1458
9361	LONP1	HP:0000470	Short neck	1/7	OMIM:615777
9361	LONP1	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:79243
9361	LONP1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9361	LONP1	HP:0001763	Pes planus	1/7	OMIM:615777
9361	LONP1	HP:0012418	Hypoxemia	HP:0040282	ORPHA:2140
9361	LONP1	HP:0001761	Pes cavus	HP:0040283	ORPHA:79243
9361	LONP1	HP:0004122	Midline defect of the nose	HP:0040281	ORPHA:1458
9361	LONP1	HP:0006799	Basal ganglia cysts	HP:0040283	ORPHA:79243
9361	LONP1	HP:0000518	Cataract	11/11	OMIM:600373
9361	LONP1	HP:0000518	Cataract	HP:0040281	ORPHA:1458
9361	LONP1	HP:0000519	Developmental cataract	-	OMIM:600373
9361	LONP1	HP:0001840	Metatarsus adductus	-	OMIM:615777
9361	LONP1	HP:0000520	Proptosis	2/4	OMIM:131300
9361	LONP1	HP:0000520	Proptosis	7/7	OMIM:615777
9361	LONP1	HP:0000508	Ptosis	4/4	OMIM:600373
9361	LONP1	HP:0000508	Ptosis	HP:0040282	ORPHA:1458
9361	LONP1	HP:0000592	Blue sclerae	2/7	OMIM:615777
9361	LONP1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9361	LONP1	HP:0001883	Talipes	HP:0040283	ORPHA:79243
9361	LONP1	HP:0012514	Lower limb pain	4/4	OMIM:131300
9364	RAB28	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
9364	RAB28	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
9364	RAB28	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
9364	RAB28	HP:0000007	Autosomal recessive inheritance	-	OMIM:615374
9364	RAB28	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
9364	RAB28	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
9364	RAB28	HP:0007663	Reduced visual acuity	4/4	OMIM:615374
9364	RAB28	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
9364	RAB28	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
9364	RAB28	HP:0025010	Foveal atrophy	1/5	OMIM:615374
9364	RAB28	HP:0003621	Juvenile onset	8/19	OMIM:180100
9364	RAB28	HP:0003621	Juvenile onset	3/4	OMIM:615374
9364	RAB28	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
9364	RAB28	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
9364	RAB28	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
9364	RAB28	HP:0000603	Central scotoma	1/3	OMIM:615374
9364	RAB28	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
9364	RAB28	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
9364	RAB28	HP:0000662	Nyctalopia	26/28	OMIM:180100
9364	RAB28	HP:0011463	Childhood onset	3/19	OMIM:180100
9364	RAB28	HP:0011463	Childhood onset	1/4	OMIM:615374
9364	RAB28	HP:0011462	Young adult onset	8/19	OMIM:180100
9364	RAB28	HP:0008001	Foveal hyperpigmentation	3/4	OMIM:615374
9364	RAB28	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
9364	RAB28	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
9364	RAB28	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
9364	RAB28	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
9364	RAB28	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
9364	RAB28	HP:0011003	High myopia	4/4	OMIM:615374
9364	RAB28	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
9364	RAB28	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
9364	RAB28	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
9364	RAB28	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
9364	RAB28	HP:0000575	Scotoma	5/18	OMIM:180100
9364	RAB28	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
9364	RAB28	HP:0000548	Cone/cone-rod dystrophy	5/5	OMIM:615374
9364	RAB28	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
9364	RAB28	HP:0000543	Optic disc pallor	1/1	OMIM:180100
9364	RAB28	HP:0000545	Myopia	-	OMIM:180100
9365	KL	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9365	KL	HP:0001293	Cranial nerve compression	-	OMIM:131300
9365	KL	HP:0001252	Hypotonia	2/7	OMIM:615777
9365	KL	HP:0001249	Intellectual disability	5/7	OMIM:615777
9365	KL	HP:0001263	Global developmental delay	-	OMIM:615777
9365	KL	HP:0006051	Metacarpal periosteal thickening	1/1	OMIM:617994
9365	KL	HP:0002515	Waddling gait	54/102	OMIM:131300
9365	KL	HP:0002514	Cerebral calcification	1/1	OMIM:617994
9365	KL	HP:0001382	Joint hypermobility	-	OMIM:615777
9365	KL	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9365	KL	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9365	KL	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9365	KL	HP:0001324	Muscle weakness	40/96	OMIM:131300
9365	KL	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9365	KL	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9365	KL	HP:0000007	Autosomal recessive inheritance	-	OMIM:617994
9365	KL	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9365	KL	HP:0002650	Scoliosis	12/14	OMIM:131300
9365	KL	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9365	KL	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9365	KL	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9365	KL	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9365	KL	HP:0000175	Cleft palate	2/7	OMIM:615777
9365	KL	HP:0025441	Achilles tendon calcification	1/1	OMIM:617994
9365	KL	HP:0000103	Polyuria	0/1	OMIM:617994
9365	KL	HP:0003388	Easy fatigability	36/76	OMIM:131300
9365	KL	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9365	KL	HP:0008208	Parathyroid hyperplasia	1/1	OMIM:617994
9365	KL	HP:0003510	Severe short stature	7/7	OMIM:615777
9365	KL	HP:0002315	Headache	-	OMIM:131300
9365	KL	HP:0002315	Headache	1/1	OMIM:617994
9365	KL	HP:0004976	Knee dislocation	6/7	OMIM:615777
9365	KL	HP:0009803	Short phalanx of finger	-	OMIM:615777
9365	KL	HP:0009763	Limb pain	63/92	OMIM:131300
9365	KL	HP:0003621	Juvenile onset	-	OMIM:131300
9365	KL	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9365	KL	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9365	KL	HP:6001056	Out-toeing	-	OMIM:131300
9365	KL	HP:0000651	Diplopia	-	OMIM:131300
9365	KL	HP:0001959	Polydipsia	0/1	OMIM:617994
9365	KL	HP:0001956	Truncal obesity	2/7	OMIM:615777
9365	KL	HP:0001903	Anemia	HP:0040283	OMIM:131300
9365	KL	HP:0010049	Short metacarpal	-	OMIM:615777
9365	KL	HP:0000678	Dental crowding	-	OMIM:615777
9365	KL	HP:0000670	Carious teeth	-	OMIM:131300
9365	KL	HP:0011304	Broad thumb	2/7	OMIM:615777
9365	KL	HP:0000668	Hypodontia	-	OMIM:615777
9365	KL	HP:0000664	Synophrys	-	OMIM:615777
9365	KL	HP:0003072	Hypercalcemia	1/1	OMIM:617994
9365	KL	HP:0004396	Poor appetite	-	OMIM:131300
9365	KL	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9365	KL	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9365	KL	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9365	KL	HP:0003026	Short long bone	7/7	OMIM:615777
9365	KL	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9365	KL	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9365	KL	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9365	KL	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9365	KL	HP:0000750	Delayed speech and language development	-	OMIM:615777
9365	KL	HP:0011461	Fetal onset	7/7	OMIM:615777
9365	KL	HP:0000774	Narrow chest	2/7	OMIM:615777
9365	KL	HP:0000787	Nephrolithiasis	0/1	OMIM:617994
9365	KL	HP:0000926	Platyspondyly	1/7	OMIM:615777
9365	KL	HP:0003180	Flat acetabular roof	-	OMIM:615777
9365	KL	HP:0004482	Relative macrocephaly	-	OMIM:615777
9365	KL	HP:0003165	Elevated circulating parathyroid hormone level	1/1	OMIM:617994
9365	KL	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9365	KL	HP:0000823	Delayed puberty	-	OMIM:131300
9365	KL	HP:0000894	Short clavicles	-	OMIM:615777
9365	KL	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9365	KL	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9365	KL	HP:0000938	Osteopenia	1/1	OMIM:617994
9365	KL	HP:0000286	Epicanthus	1/7	OMIM:615777
9365	KL	HP:0000280	Coarse facial features	2/7	OMIM:615777
9365	KL	HP:0031415	High serum calcitriol	1/1	OMIM:617994
9365	KL	HP:0002827	Hip dislocation	3/7	OMIM:615777
9365	KL	HP:0000252	Microcephaly	-	OMIM:615777
9365	KL	HP:0002857	Genu valgum	-	OMIM:131300
9365	KL	HP:0001533	Slender build	-	OMIM:131300
9365	KL	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9365	KL	HP:0007807	Optic nerve compression	-	OMIM:131300
9365	KL	HP:0012378	Fatigue	1/1	OMIM:617994
9365	KL	HP:0012368	Flat face	7/7	OMIM:615777
9365	KL	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9365	KL	HP:0002905	Hyperphosphatemia	1/1	OMIM:617994
9365	KL	HP:0000365	Hearing impairment	10/67	OMIM:131300
9365	KL	HP:0000343	Long philtrum	1/7	OMIM:615777
9365	KL	HP:0011001	Increased bone mineral density	-	OMIM:131300
9365	KL	HP:0000311	Round face	2/7	OMIM:615777
9365	KL	HP:0002970	Genu varum	-	OMIM:615777
9365	KL	HP:0000303	Mandibular prognathia	-	OMIM:131300
9365	KL	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9365	KL	HP:0000470	Short neck	1/7	OMIM:615777
9365	KL	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9365	KL	HP:0001763	Pes planus	1/7	OMIM:615777
9365	KL	HP:0005450	Calvarial osteosclerosis	1/1	OMIM:617994
9365	KL	HP:0001840	Metatarsus adductus	-	OMIM:615777
9365	KL	HP:0000520	Proptosis	2/4	OMIM:131300
9365	KL	HP:0000520	Proptosis	7/7	OMIM:615777
9365	KL	HP:0000592	Blue sclerae	2/7	OMIM:615777
9365	KL	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9365	KL	HP:0012514	Lower limb pain	4/4	OMIM:131300
9368	NHERF1	HP:0002659	Increased susceptibility to fractures	-	OMIM:612287
9368	NHERF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:612287
9368	NHERF1	HP:0000117	Renal phosphate wasting	-	OMIM:612287
9368	NHERF1	HP:0002148	Hypophosphatemia	-	OMIM:612287
9368	NHERF1	HP:0000787	Nephrolithiasis	-	OMIM:612287
9368	NHERF1	HP:0003109	Hyperphosphaturia	-	OMIM:612287
9368	NHERF1	HP:0000939	Osteoporosis	-	OMIM:612287
9368	NHERF1	HP:0000938	Osteopenia	-	OMIM:612287
9371	KIF3B	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
9371	KIF3B	HP:0001133	Constriction of peripheral visual field	-	OMIM:618955
9371	KIF3B	HP:0025158	Hyperautofluorescent retinal lesion	-	OMIM:618955
9371	KIF3B	HP:0001395	Hepatic fibrosis	1/6	OMIM:618955
9371	KIF3B	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
9371	KIF3B	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
9371	KIF3B	HP:0000006	Autosomal dominant inheritance	-	OMIM:618955
9371	KIF3B	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
9371	KIF3B	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
9371	KIF3B	HP:0001433	Hepatosplenomegaly	1/6	OMIM:618955
9371	KIF3B	HP:0001413	Micronodular cirrhosis	1/6	OMIM:618955
9371	KIF3B	HP:0002040	Esophageal varix	1/6	OMIM:618955
9371	KIF3B	HP:0033149	Intrahepatic bile duct dilatation	1/6	OMIM:618955
9371	KIF3B	HP:0003621	Juvenile onset	8/19	OMIM:180100
9371	KIF3B	HP:0030473	Abnormal light-adapted flicker electroretinogram	-	OMIM:618955
9371	KIF3B	HP:0000662	Nyctalopia	26/28	OMIM:180100
9371	KIF3B	HP:0000662	Nyctalopia	-	OMIM:618955
9371	KIF3B	HP:0011463	Childhood onset	3/19	OMIM:180100
9371	KIF3B	HP:0011463	Childhood onset	-	OMIM:618955
9371	KIF3B	HP:0011462	Young adult onset	8/19	OMIM:180100
9371	KIF3B	HP:0100259	Postaxial polydactyly	-	OMIM:618955
9371	KIF3B	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
9371	KIF3B	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
9371	KIF3B	HP:0001647	Bicuspid aortic valve	1/6	OMIM:618955
9371	KIF3B	HP:0030329	Retinal thinning	-	OMIM:618955
9371	KIF3B	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
9371	KIF3B	HP:0000510	Rod-cone dystrophy	-	OMIM:618955
9371	KIF3B	HP:0000575	Scotoma	5/18	OMIM:180100
9371	KIF3B	HP:0000543	Optic disc pallor	1/1	OMIM:180100
9371	KIF3B	HP:0000545	Myopia	-	OMIM:180100
9373	PLAA	HP:0001187	Hyperextensibility of the finger joints	HP:0040282	ORPHA:521426
9373	PLAA	HP:0002483	Bulbar signs	HP:0040283	ORPHA:521426
9373	PLAA	HP:0002483	Bulbar signs	7/10	OMIM:617527
9373	PLAA	HP:0002478	Progressive spastic quadriplegia	HP:0040282	ORPHA:521426
9373	PLAA	HP:0001162	Postaxial hand polydactyly	HP:0040282	ORPHA:521426
9373	PLAA	HP:0007256	Abnormal pyramidal sign	7/7	OMIM:617527
9373	PLAA	HP:0010862	Delayed fine motor development	6/6	OMIM:617527
9373	PLAA	HP:0010864	Intellectual disability, severe	7/7	OMIM:617527
9373	PLAA	HP:0100807	Long fingers	HP:0040282	ORPHA:521426
9373	PLAA	HP:0100807	Long fingers	-	OMIM:617527
9373	PLAA	HP:0001276	Hypertonia	6/6	OMIM:617527
9373	PLAA	HP:0001283	Bulbar palsy	HP:0040282	ORPHA:521426
9373	PLAA	HP:0001283	Bulbar palsy	4/4	OMIM:617527
9373	PLAA	HP:0001250	Seizure	HP:0040283	ORPHA:521426
9373	PLAA	HP:0001250	Seizure	3/7	OMIM:617527
9373	PLAA	HP:0001252	Hypotonia	HP:0040282	ORPHA:521426
9373	PLAA	HP:0001252	Hypotonia	13/15	OMIM:617527
9373	PLAA	HP:0001249	Intellectual disability	HP:0040282	ORPHA:521426
9373	PLAA	HP:0001263	Global developmental delay	HP:0040282	ORPHA:521426
9373	PLAA	HP:0001263	Global developmental delay	14/14	OMIM:617527
9373	PLAA	HP:0007410	Palmoplantar hyperhidrosis	6/7	OMIM:617527
9373	PLAA	HP:0002536	Abnormal cortical gyration	HP:0040282	ORPHA:521426
9373	PLAA	HP:0002536	Abnormal cortical gyration	10/10	OMIM:617527
9373	PLAA	HP:0002553	Highly arched eyebrow	1/7	OMIM:617527
9373	PLAA	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:521426
9373	PLAA	HP:0034964	Wide cavum septum pellucidum	3/3	OMIM:617527
9373	PLAA	HP:0002509	Limb hypertonia	HP:0040282	ORPHA:521426
9373	PLAA	HP:0007514	Edema of the dorsum of hands	HP:0040282	ORPHA:521426
9373	PLAA	HP:0007514	Edema of the dorsum of hands	2/7	OMIM:617527
9373	PLAA	HP:0012098	Edema of the dorsum of feet	HP:0040282	ORPHA:521426
9373	PLAA	HP:0012098	Edema of the dorsum of feet	4/7	OMIM:617527
9373	PLAA	HP:0031162	Impaired oropharyngeal swallow response	HP:0040282	ORPHA:521426
9373	PLAA	HP:0001332	Dystonia	HP:0040282	ORPHA:521426
9373	PLAA	HP:0033725	Thin corpus callosum	11/12	OMIM:617527
9373	PLAA	HP:0001344	Absent speech	6/6	OMIM:617527
9373	PLAA	HP:0000007	Autosomal recessive inheritance	-	OMIM:617527
9373	PLAA	HP:0002033	Poor suck	-	OMIM:617527
9373	PLAA	HP:0002015	Dysphagia	-	OMIM:617527
9373	PLAA	HP:0100543	Cognitive impairment	8/8	OMIM:617527
9373	PLAA	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:521426
9373	PLAA	HP:0002093	Respiratory insufficiency	-	OMIM:617527
9373	PLAA	HP:0002063	Rigidity	HP:0040282	ORPHA:521426
9373	PLAA	HP:0002063	Rigidity	-	OMIM:617527
9373	PLAA	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:521426
9373	PLAA	HP:0002079	Hypoplasia of the corpus callosum	6/7	OMIM:617527
9373	PLAA	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:521426
9373	PLAA	HP:0002071	Abnormality of extrapyramidal motor function	7/7	OMIM:617527
9373	PLAA	HP:0003487	Babinski sign	5/7	OMIM:617527
9373	PLAA	HP:0002120	Cerebral cortical atrophy	14/17	OMIM:617527
9373	PLAA	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:521426
9373	PLAA	HP:0002119	Ventriculomegaly	5/9	OMIM:617527
9373	PLAA	HP:0002104	Apnea	HP:0040282	ORPHA:521426
9373	PLAA	HP:0002104	Apnea	-	OMIM:617527
9373	PLAA	HP:0002188	Delayed CNS myelination	6/11	OMIM:617527
9373	PLAA	HP:0002197	Generalized-onset seizure	8/12	OMIM:617527
9373	PLAA	HP:0002194	Delayed gross motor development	6/6	OMIM:617527
9373	PLAA	HP:0008278	Cerebellar cortical atrophy	HP:0040282	ORPHA:521426
9373	PLAA	HP:0002267	Exaggerated startle response	HP:0040282	ORPHA:521426
9373	PLAA	HP:0002267	Exaggerated startle response	6/6	OMIM:617527
9373	PLAA	HP:0003593	Infantile onset	7/7	OMIM:617527
9373	PLAA	HP:0003577	Congenital onset	17/17	OMIM:617527
9373	PLAA	HP:0430046	Small joint hypermobilty	6/7	OMIM:617527
9373	PLAA	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:521426
9373	PLAA	HP:0011968	Feeding difficulties	-	OMIM:617527
9373	PLAA	HP:0001007	Hirsutism	HP:0040282	ORPHA:521426
9373	PLAA	HP:0001007	Hirsutism	6/8	OMIM:617527
9373	PLAA	HP:0002352	Leukoencephalopathy	HP:0040282	ORPHA:521426
9373	PLAA	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:521426
9373	PLAA	HP:0010804	Tented upper lip vermilion	-	OMIM:617527
9373	PLAA	HP:0007109	Periventricular cysts	1/1	OMIM:617527
9373	PLAA	HP:0000639	Nystagmus	HP:0040283	ORPHA:521426
9373	PLAA	HP:0000639	Nystagmus	4/9	OMIM:617527
9373	PLAA	HP:0000648	Optic atrophy	HP:0040282	ORPHA:521426
9373	PLAA	HP:0000648	Optic atrophy	4/4	OMIM:617527
9373	PLAA	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:521426
9373	PLAA	HP:0006980	Progressive leukoencephalopathy	9/9	OMIM:617527
9373	PLAA	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:521426
9373	PLAA	HP:0000768	Pectus carinatum	7/7	OMIM:617527
9373	PLAA	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:521426
9373	PLAA	HP:0000750	Delayed speech and language development	7/7	OMIM:617527
9373	PLAA	HP:0012762	Cerebral white matter atrophy	HP:0040282	ORPHA:521426
9373	PLAA	HP:0005781	Contractures of the large joints	HP:0040282	ORPHA:521426
9373	PLAA	HP:0005781	Contractures of the large joints	7/7	OMIM:617527
9373	PLAA	HP:0003196	Short nose	HP:0040282	ORPHA:521426
9373	PLAA	HP:0003196	Short nose	1/7	OMIM:617527
9373	PLAA	HP:0004485	Cessation of head growth	6/6	OMIM:617527
9373	PLAA	HP:0000851	Congenital hypothyroidism	1/7	OMIM:617527
9373	PLAA	HP:0100259	Postaxial polydactyly	2/7	OMIM:617527
9373	PLAA	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:521426
9373	PLAA	HP:0000954	Single transverse palmar crease	HP:0040282	ORPHA:521426
9373	PLAA	HP:0000954	Single transverse palmar crease	3/7	OMIM:617527
9373	PLAA	HP:0000280	Coarse facial features	7/7	OMIM:617527
9373	PLAA	HP:0002808	Kyphosis	HP:0040282	ORPHA:521426
9373	PLAA	HP:0002808	Kyphosis	7/7	OMIM:617527
9373	PLAA	HP:0000253	Progressive microcephaly	7/7	OMIM:617527
9373	PLAA	HP:0000252	Microcephaly	HP:0040282	ORPHA:521426
9373	PLAA	HP:0000218	High palate	HP:0040282	ORPHA:521426
9373	PLAA	HP:0000218	High palate	2/7	OMIM:617527
9373	PLAA	HP:0001561	Polyhydramnios	1/1	OMIM:617527
9373	PLAA	HP:0001508	Failure to thrive	HP:0040282	ORPHA:521426
9373	PLAA	HP:0001508	Failure to thrive	7/7	OMIM:617527
9373	PLAA	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:521426
9373	PLAA	HP:0000358	Posteriorly rotated ears	2/7	OMIM:617527
9373	PLAA	HP:0000369	Low-set ears	3/7	OMIM:617527
9373	PLAA	HP:0000341	Narrow forehead	2/7	OMIM:617527
9373	PLAA	HP:0000343	Long philtrum	HP:0040282	ORPHA:521426
9373	PLAA	HP:0000343	Long philtrum	1/7	OMIM:617527
9373	PLAA	HP:0000338	Hypomimic face	-	OMIM:617527
9373	PLAA	HP:0000347	Micrognathia	HP:0040282	ORPHA:521426
9373	PLAA	HP:0000347	Micrognathia	1/7	OMIM:617527
9373	PLAA	HP:0000319	Smooth philtrum	HP:0040282	ORPHA:521426
9373	PLAA	HP:0000319	Smooth philtrum	1/7	OMIM:617527
9373	PLAA	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:521426
9373	PLAA	HP:0000490	Deeply set eye	3/7	OMIM:617527
9373	PLAA	HP:0012448	Delayed myelination	HP:0040282	ORPHA:521426
9373	PLAA	HP:0001838	Rocker bottom foot	HP:0040282	ORPHA:521426
9373	PLAA	HP:0001838	Rocker bottom foot	2/7	OMIM:617527
9373	PLAA	HP:0001830	Postaxial foot polydactyly	HP:0040282	ORPHA:521426
9377	COX5A	HP:0001254	Lethargy	1/2	OMIM:619064
9377	COX5A	HP:0001252	Hypotonia	-	OMIM:619064
9377	COX5A	HP:0003819	Death in childhood	1/2	OMIM:619064
9377	COX5A	HP:0001348	Brisk reflexes	-	OMIM:619064
9377	COX5A	HP:0000007	Autosomal recessive inheritance	-	OMIM:619064
9377	COX5A	HP:0003348	Hyperalaninemia	1/2	OMIM:619064
9377	COX5A	HP:0002007	Frontal bossing	1/2	OMIM:619064
9377	COX5A	HP:0002092	Pulmonary arterial hypertension	2/2	OMIM:619064
9377	COX5A	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:619064
9377	COX5A	HP:0003593	Infantile onset	1/2	OMIM:619064
9377	COX5A	HP:0003577	Congenital onset	1/2	OMIM:619064
9377	COX5A	HP:0002240	Hepatomegaly	-	OMIM:619064
9377	COX5A	HP:0008358	Hyperprolinemia	1/2	OMIM:619064
9377	COX5A	HP:0008347	Decreased activity of mitochondrial complex IV	-	OMIM:619064
9377	COX5A	HP:0000664	Synophrys	1/2	OMIM:619064
9377	COX5A	HP:0000260	Wide anterior fontanel	1/2	OMIM:619064
9377	COX5A	HP:0001531	Failure to thrive in infancy	-	OMIM:619064
9377	COX5A	HP:0001522	Death in infancy	1/2	OMIM:619064
9377	COX5A	HP:0002910	Elevated circulating hepatic transaminase concentration	2/2	OMIM:619064
9377	COX5A	HP:0001640	Cardiomegaly	-	OMIM:619064
9377	COX5A	HP:0000490	Deeply set eye	1/2	OMIM:619064
9377	COX5A	HP:0000527	Long eyelashes	1/2	OMIM:619064
9378	NRXN1	HP:0010864	Intellectual disability, severe	-	OMIM:614325
9378	NRXN1	HP:0001290	Generalized hypotonia	-	OMIM:614325
9378	NRXN1	HP:0001252	Hypotonia	-	OMIM:614325
9378	NRXN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614325
9378	NRXN1	HP:0002650	Scoliosis	-	OMIM:614325
9378	NRXN1	HP:0000154	Wide mouth	-	OMIM:614325
9378	NRXN1	HP:0002020	Gastroesophageal reflux	-	OMIM:614325
9378	NRXN1	HP:0002019	Constipation	-	OMIM:614325
9378	NRXN1	HP:0002136	Broad-based gait	HP:0040283	OMIM:614325
9378	NRXN1	HP:0200134	Epileptic encephalopathy	HP:0040282	OMIM:614325
9378	NRXN1	HP:0011968	Feeding difficulties	-	OMIM:614325
9378	NRXN1	HP:0002376	Developmental regression	-	OMIM:614325
9378	NRXN1	HP:0010808	Protruding tongue	-	OMIM:614325
9378	NRXN1	HP:0002307	Drooling	-	OMIM:614325
9378	NRXN1	HP:0002883	Hyperventilation	-	OMIM:614325
9378	NRXN1	HP:0001642	Pulmonic stenosis	-	OMIM:614325
9378	NRXN1	HP:0000486	Strabismus	-	OMIM:614325
9380	GRHPR	HP:6000638	Reduced hepatic glyoxylate reductase activity	-	OMIM:260000
9380	GRHPR	HP:6000670	Elevated urinary L-glycerate level	1/1	OMIM:260000
9380	GRHPR	HP:0008672	Calcium oxalate nephrolithiasis	3/5	OMIM:260000
9380	GRHPR	HP:0006000	Ureteral obstruction	HP:0040282	ORPHA:93599
9380	GRHPR	HP:0000083	Renal insufficiency	1/4	OMIM:260000
9380	GRHPR	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:93599
9380	GRHPR	HP:0000010	Recurrent urinary tract infections	HP:0040282	ORPHA:93599
9380	GRHPR	HP:0000007	Autosomal recessive inheritance	-	OMIM:260000
9380	GRHPR	HP:0000121	Nephrocalcinosis	-	OMIM:260000
9380	GRHPR	HP:0000121	Nephrocalcinosis	HP:0040281	ORPHA:93599
9380	GRHPR	HP:0012100	Abnormal circulating creatinine concentration	0/1	OMIM:260000
9380	GRHPR	HP:0003593	Infantile onset	1/1	OMIM:260000
9380	GRHPR	HP:0001942	Metabolic acidosis	0/1	OMIM:260000
9380	GRHPR	HP:0000790	Hematuria	-	OMIM:260000
9380	GRHPR	HP:0000787	Nephrolithiasis	HP:0040281	ORPHA:93599
9380	GRHPR	HP:0003159	Hyperoxaluria	5/5	OMIM:260000
9380	GRHPR	HP:0003159	Hyperoxaluria	HP:0040281	ORPHA:93599
9380	GRHPR	HP:0011280	Abnormality of urine calcium concentration	0/1	OMIM:260000
9381	OTOF	HP:0000007	Autosomal recessive inheritance	-	OMIM:601071
9381	OTOF	HP:0003577	Congenital onset	-	OMIM:601071
9381	OTOF	HP:0008529	Absence of acoustic reflex	-	OMIM:601071
9381	OTOF	HP:0004463	Absent brainstem auditory responses	-	OMIM:601071
9381	OTOF	HP:0000407	Sensorineural hearing impairment	3/3	OMIM:601071
9382	COG1	HP:0001103	Abnormal macular morphology	HP:0040282	ORPHA:263508
9382	COG1	HP:0008551	Microtia	1/2	OMIM:611209
9382	COG1	HP:0008551	Microtia	HP:0040283	ORPHA:263508
9382	COG1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9382	COG1	HP:0001293	Cranial nerve compression	-	OMIM:131300
9382	COG1	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:263508
9382	COG1	HP:0001272	Cerebellar atrophy	1/1	OMIM:611209
9382	COG1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:263508
9382	COG1	HP:0001252	Hypotonia	1/1	OMIM:611209
9382	COG1	HP:0001252	Hypotonia	2/7	OMIM:615777
9382	COG1	HP:0001249	Intellectual disability	5/7	OMIM:615777
9382	COG1	HP:0001263	Global developmental delay	3/3	OMIM:611209
9382	COG1	HP:0001263	Global developmental delay	-	OMIM:615777
9382	COG1	HP:0002515	Waddling gait	54/102	OMIM:131300
9382	COG1	HP:0000083	Renal insufficiency	1/2	OMIM:611209
9382	COG1	HP:0001382	Joint hypermobility	-	OMIM:615777
9382	COG1	HP:0000047	Hypospadias	1/2	OMIM:611209
9382	COG1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9382	COG1	HP:0000028	Cryptorchidism	1/2	OMIM:611209
9382	COG1	HP:0008897	Postnatal growth retardation	1/2	OMIM:611209
9382	COG1	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:263508
9382	COG1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9382	COG1	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:611209
9382	COG1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9382	COG1	HP:0001324	Muscle weakness	40/96	OMIM:131300
9382	COG1	HP:0002673	Coxa valga	HP:0040283	ORPHA:263508
9382	COG1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9382	COG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9382	COG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:611209
9382	COG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9382	COG1	HP:0001320	Cerebellar vermis hypoplasia	1/2	OMIM:611209
9382	COG1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040282	ORPHA:263508
9382	COG1	HP:0002650	Scoliosis	12/14	OMIM:131300
9382	COG1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9382	COG1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9382	COG1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9382	COG1	HP:0008905	Rhizomelia	2/3	OMIM:611209
9382	COG1	HP:0008905	Rhizomelia	HP:0040282	ORPHA:263508
9382	COG1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9382	COG1	HP:0000160	Narrow mouth	1/2	OMIM:611209
9382	COG1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:263508
9382	COG1	HP:0000162	Glossoptosis	1/2	OMIM:611209
9382	COG1	HP:0000175	Cleft palate	1/2	OMIM:611209
9382	COG1	HP:0000175	Cleft palate	2/7	OMIM:615777
9382	COG1	HP:0000126	Hydronephrosis	1/2	OMIM:611209
9382	COG1	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:263508
9382	COG1	HP:0002751	Kyphoscoliosis	1/2	OMIM:611209
9382	COG1	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:263508
9382	COG1	HP:0002719	Recurrent infections	-	OMIM:611209
9382	COG1	HP:0003316	Butterfly vertebrae	1/2	OMIM:611209
9382	COG1	HP:0003316	Butterfly vertebrae	HP:0040282	ORPHA:263508
9382	COG1	HP:0011800	Midface retrusion	-	OMIM:611209
9382	COG1	HP:0002092	Pulmonary arterial hypertension	HP:0040282	ORPHA:263508
9382	COG1	HP:0002059	Cerebral atrophy	1/1	OMIM:611209
9382	COG1	HP:0003388	Easy fatigability	36/76	OMIM:131300
9382	COG1	HP:0009465	Ulnar deviation of finger	1/2	OMIM:611209
9382	COG1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9382	COG1	HP:0003422	Vertebral segmentation defect	1/2	OMIM:611209
9382	COG1	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:263508
9382	COG1	HP:0003577	Congenital onset	1/1	OMIM:611209
9382	COG1	HP:0002280	Enlarged cisterna magna	HP:0040282	ORPHA:263508
9382	COG1	HP:0007033	Cerebellar dysplasia	HP:0040283	ORPHA:263508
9382	COG1	HP:0011995	Atrial septal dilatation	HP:0040282	ORPHA:263508
9382	COG1	HP:0003510	Severe short stature	7/7	OMIM:615777
9382	COG1	HP:0020045	Esodeviation	1/2	OMIM:611209
9382	COG1	HP:0002342	Intellectual disability, moderate	2/2	OMIM:611209
9382	COG1	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:263508
9382	COG1	HP:0002315	Headache	-	OMIM:131300
9382	COG1	HP:0004976	Knee dislocation	6/7	OMIM:615777
9382	COG1	HP:0009803	Short phalanx of finger	-	OMIM:615777
9382	COG1	HP:0200055	Small hand	1/1	OMIM:611209
9382	COG1	HP:0009797	Cholesteatoma	1/2	OMIM:611209
9382	COG1	HP:0007112	Temporal cortical atrophy	HP:0040283	ORPHA:263508
9382	COG1	HP:0009763	Limb pain	63/92	OMIM:131300
9382	COG1	HP:0003621	Juvenile onset	-	OMIM:131300
9382	COG1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9382	COG1	HP:0005575	Hemolytic-uremic syndrome	1/2	OMIM:611209
9382	COG1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9382	COG1	HP:6001056	Out-toeing	-	OMIM:131300
9382	COG1	HP:0000651	Diplopia	-	OMIM:131300
9382	COG1	HP:0001956	Truncal obesity	2/7	OMIM:615777
9382	COG1	HP:0001903	Anemia	-	OMIM:611209
9382	COG1	HP:0001903	Anemia	HP:0040283	OMIM:131300
9382	COG1	HP:0001902	Giant platelets	1/2	OMIM:611209
9382	COG1	HP:0010049	Short metacarpal	-	OMIM:615777
9382	COG1	HP:0011342	Mild global developmental delay	-	OMIM:611209
9382	COG1	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:263508
9382	COG1	HP:0000678	Dental crowding	-	OMIM:615777
9382	COG1	HP:0000670	Carious teeth	-	OMIM:131300
9382	COG1	HP:0011304	Broad thumb	2/7	OMIM:615777
9382	COG1	HP:0000668	Hypodontia	-	OMIM:615777
9382	COG1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:263508
9382	COG1	HP:0000664	Synophrys	-	OMIM:615777
9382	COG1	HP:0004322	Short stature	1/2	OMIM:611209
9382	COG1	HP:0006956	Lateral ventricle dilatation	1/2	OMIM:611209
9382	COG1	HP:0004396	Poor appetite	-	OMIM:131300
9382	COG1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9382	COG1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9382	COG1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9382	COG1	HP:0003026	Short long bone	1/2	OMIM:611209
9382	COG1	HP:0003026	Short long bone	HP:0040282	ORPHA:263508
9382	COG1	HP:0003026	Short long bone	7/7	OMIM:615777
9382	COG1	HP:0031936	Delayed ability to walk	1/2	OMIM:611209
9382	COG1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9382	COG1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9382	COG1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9382	COG1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9382	COG1	HP:0000750	Delayed speech and language development	-	OMIM:611209
9382	COG1	HP:0000750	Delayed speech and language development	-	OMIM:615777
9382	COG1	HP:0011461	Fetal onset	7/7	OMIM:615777
9382	COG1	HP:0000774	Narrow chest	2/7	OMIM:615777
9382	COG1	HP:0000926	Platyspondyly	1/7	OMIM:615777
9382	COG1	HP:0003177	Squared iliac bones	1/2	OMIM:611209
9382	COG1	HP:0003182	Shallow acetabular fossae	1/2	OMIM:611209
9382	COG1	HP:0003180	Flat acetabular roof	-	OMIM:615777
9382	COG1	HP:0003180	Flat acetabular roof	HP:0040283	ORPHA:263508
9382	COG1	HP:0000902	Rib fusion	2/2	OMIM:611209
9382	COG1	HP:0000902	Rib fusion	HP:0040282	ORPHA:263508
9382	COG1	HP:0004482	Relative macrocephaly	-	OMIM:615777
9382	COG1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9382	COG1	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/2	OMIM:611209
9382	COG1	HP:0000823	Delayed puberty	-	OMIM:131300
9382	COG1	HP:0000894	Short clavicles	-	OMIM:615777
9382	COG1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9382	COG1	HP:0004582	Irregularity of vertebral bodies	HP:0040282	ORPHA:263508
9382	COG1	HP:0000954	Single transverse palmar crease	1/2	OMIM:611209
9382	COG1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9382	COG1	HP:0000938	Osteopenia	1/2	OMIM:611209
9382	COG1	HP:0000938	Osteopenia	HP:0040282	ORPHA:263508
9382	COG1	HP:0000286	Epicanthus	1/7	OMIM:615777
9382	COG1	HP:0000280	Coarse facial features	2/7	OMIM:615777
9382	COG1	HP:0000274	Small face	1/2	OMIM:611209
9382	COG1	HP:0006429	Broad femoral neck	1/2	OMIM:611209
9382	COG1	HP:0002827	Hip dislocation	3/7	OMIM:615777
9382	COG1	HP:0000253	Progressive microcephaly	-	OMIM:611209
9382	COG1	HP:0000253	Progressive microcephaly	HP:0040283	ORPHA:263508
9382	COG1	HP:0000252	Microcephaly	2/2	OMIM:611209
9382	COG1	HP:0000252	Microcephaly	-	OMIM:615777
9382	COG1	HP:0000219	Thin upper lip vermilion	1/2	OMIM:611209
9382	COG1	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:263508
9382	COG1	HP:0000218	High palate	1/2	OMIM:611209
9382	COG1	HP:0000218	High palate	HP:0040283	ORPHA:263508
9382	COG1	HP:0001531	Failure to thrive in infancy	1/1	OMIM:611209
9382	COG1	HP:0002857	Genu valgum	-	OMIM:131300
9382	COG1	HP:0001533	Slender build	-	OMIM:131300
9382	COG1	HP:0000201	Pierre-Robin sequence	1/2	OMIM:611209
9382	COG1	HP:0000201	Pierre-Robin sequence	HP:0040282	ORPHA:263508
9382	COG1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:263508
9382	COG1	HP:0001511	Intrauterine growth retardation	-	OMIM:611209
9382	COG1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9382	COG1	HP:0007807	Optic nerve compression	-	OMIM:131300
9382	COG1	HP:0012385	Camptodactyly	1/2	OMIM:611209
9382	COG1	HP:0012368	Flat face	7/7	OMIM:615777
9382	COG1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9382	COG1	HP:0002943	Thoracic scoliosis	1/2	OMIM:611209
9382	COG1	HP:0000365	Hearing impairment	10/67	OMIM:131300
9382	COG1	HP:0000358	Posteriorly rotated ears	2/2	OMIM:611209
9382	COG1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:263508
9382	COG1	HP:0000369	Low-set ears	2/2	OMIM:611209
9382	COG1	HP:0000343	Long philtrum	1/2	OMIM:611209
9382	COG1	HP:0000343	Long philtrum	HP:0040283	ORPHA:263508
9382	COG1	HP:0000343	Long philtrum	1/7	OMIM:615777
9382	COG1	HP:0011001	Increased bone mineral density	-	OMIM:131300
9382	COG1	HP:0000347	Micrognathia	2/2	OMIM:611209
9382	COG1	HP:0000347	Micrognathia	HP:0040283	ORPHA:263508
9382	COG1	HP:0012301	Type II transferrin isoform profile	2/2	OMIM:611209
9382	COG1	HP:0012301	Type II transferrin isoform profile	HP:0040282	ORPHA:263508
9382	COG1	HP:0000319	Smooth philtrum	1/2	OMIM:611209
9382	COG1	HP:0000319	Smooth philtrum	HP:0040282	ORPHA:263508
9382	COG1	HP:0000316	Hypertelorism	1/2	OMIM:611209
9382	COG1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:263508
9382	COG1	HP:0000311	Round face	2/7	OMIM:615777
9382	COG1	HP:0002970	Genu varum	-	OMIM:615777
9382	COG1	HP:0000303	Mandibular prognathia	-	OMIM:131300
9382	COG1	HP:0006610	Wide intermamillary distance	1/2	OMIM:611209
9382	COG1	HP:0000405	Conductive hearing impairment	1/2	OMIM:611209
9382	COG1	HP:0000402	Stenosis of the external auditory canal	1/2	OMIM:611209
9382	COG1	HP:0001712	Left ventricular hypertrophy	1/1	OMIM:611209
9382	COG1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9382	COG1	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:611209
9382	COG1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:263508
9382	COG1	HP:0000463	Anteverted nares	-	OMIM:611209
9382	COG1	HP:0012444	Brain atrophy	1/2	OMIM:611209
9382	COG1	HP:0000475	Broad neck	HP:0040283	ORPHA:263508
9382	COG1	HP:0000470	Short neck	2/2	OMIM:611209
9382	COG1	HP:0000470	Short neck	HP:0040282	ORPHA:263508
9382	COG1	HP:0000470	Short neck	1/7	OMIM:615777
9382	COG1	HP:0001773	Short foot	-	OMIM:611209
9382	COG1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9382	COG1	HP:0001763	Pes planus	1/7	OMIM:615777
9382	COG1	HP:0030282	Posterior rib gap	1/2	OMIM:611209
9382	COG1	HP:0030282	Posterior rib gap	HP:0040282	ORPHA:263508
9382	COG1	HP:0001762	Talipes equinovarus	1/2	OMIM:611209
9382	COG1	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:263508
9382	COG1	HP:0000431	Wide nasal bridge	1/2	OMIM:611209
9382	COG1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:263508
9382	COG1	HP:0001840	Metatarsus adductus	-	OMIM:615777
9382	COG1	HP:0000520	Proptosis	1/2	OMIM:611209
9382	COG1	HP:0000520	Proptosis	2/4	OMIM:131300
9382	COG1	HP:0000520	Proptosis	7/7	OMIM:615777
9382	COG1	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:611209
9382	COG1	HP:0000592	Blue sclerae	2/7	OMIM:615777
9382	COG1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9382	COG1	HP:0012514	Lower limb pain	4/4	OMIM:131300
9382	COG1	HP:0001873	Thrombocytopenia	1/2	OMIM:611209
9394	HS6ST1	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0001250	Seizure	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0001251	Ataxia	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0008734	Decreased testicular size	1/1	OMIM:146110
9394	HS6ST1	HP:0008734	Decreased testicular size	-	OMIM:614880
9394	HS6ST1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
9394	HS6ST1	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
9394	HS6ST1	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:432
9394	HS6ST1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
9394	HS6ST1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
9394	HS6ST1	HP:0000054	Micropenis	1/1	OMIM:146110
9394	HS6ST1	HP:0000054	Micropenis	-	OMIM:614880
9394	HS6ST1	HP:0000054	Micropenis	HP:0040281	ORPHA:478
9394	HS6ST1	HP:0000054	Micropenis	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0000028	Cryptorchidism	-	OMIM:146110
9394	HS6ST1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
9394	HS6ST1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0000028	Cryptorchidism	-	OMIM:614880
9394	HS6ST1	HP:0000027	Azoospermia	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:432
9394	HS6ST1	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0000013	Hypoplasia of the uterus	HP:0040282	ORPHA:432
9394	HS6ST1	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
9394	HS6ST1	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0001337	Tremor	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614880
9394	HS6ST1	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:432
9394	HS6ST1	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0000175	Cleft palate	HP:0040283	ORPHA:432
9394	HS6ST1	HP:0000175	Cleft palate	1/7	OMIM:614880
9394	HS6ST1	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
9394	HS6ST1	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:432
9394	HS6ST1	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
9394	HS6ST1	HP:0002231	Sparse body hair	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
9394	HS6ST1	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:432
9394	HS6ST1	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
9394	HS6ST1	HP:0003621	Juvenile onset	2/2	OMIM:146110
9394	HS6ST1	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0000802	Impotence	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
9394	HS6ST1	HP:0000771	Gynecomastia	HP:0040282	ORPHA:432
9394	HS6ST1	HP:0000771	Gynecomastia	0/1	OMIM:146110
9394	HS6ST1	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0000739	Anxiety	HP:0040282	ORPHA:432
9394	HS6ST1	HP:0000716	Depression	HP:0040282	ORPHA:432
9394	HS6ST1	HP:0000789	Infertility	HP:0040283	OMIM:146110
9394	HS6ST1	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
9394	HS6ST1	HP:0000786	Primary amenorrhea	-	OMIM:614880
9394	HS6ST1	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
9394	HS6ST1	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
9394	HS6ST1	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
9394	HS6ST1	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
9394	HS6ST1	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:432
9394	HS6ST1	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
9394	HS6ST1	HP:0000823	Delayed puberty	HP:0040282	ORPHA:432
9394	HS6ST1	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
9394	HS6ST1	HP:0000939	Osteoporosis	2/7	OMIM:614880
9394	HS6ST1	HP:0000939	Osteoporosis	HP:0040282	ORPHA:432
9394	HS6ST1	HP:0000938	Osteopenia	2/7	OMIM:614880
9394	HS6ST1	HP:0000938	Osteopenia	HP:0040282	ORPHA:432
9394	HS6ST1	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0030019	Increased female libido	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0002857	Genu valgum	2/7	OMIM:614880
9394	HS6ST1	HP:0001513	Obesity	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0012385	Camptodactyly	HP:0040283	ORPHA:432
9394	HS6ST1	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
9394	HS6ST1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:432
9394	HS6ST1	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:432
9394	HS6ST1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:432
9394	HS6ST1	HP:0000458	Anosmia	7/7	OMIM:614880
9394	HS6ST1	HP:0000458	Anosmia	HP:0040281	ORPHA:478
9394	HS6ST1	HP:0001763	Pes planus	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0012506	Small pituitary gland	HP:0040283	OMIM:614880
9394	HS6ST1	HP:0000508	Ptosis	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
9394	HS6ST1	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
9401	RECQL4	HP:0001118	Juvenile cataract	HP:0040284	ORPHA:221016
9401	RECQL4	HP:0010920	Zonular cataract	-	OMIM:268400
9401	RECQL4	HP:0001191	Abnormal carpal morphology	HP:0040282	ORPHA:1225
9401	RECQL4	HP:0008577	Underfolded helix	1/2	OMIM:268400
9401	RECQL4	HP:0003761	Calcinosis	HP:0040284	ORPHA:221016
9401	RECQL4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9401	RECQL4	HP:0001293	Cranial nerve compression	-	OMIM:131300
9401	RECQL4	HP:0001274	Agenesis of corpus callosum	-	OMIM:218600
9401	RECQL4	HP:0001270	Motor delay	1/6	OMIM:218600
9401	RECQL4	HP:0001256	Intellectual disability, mild	2/14	OMIM:266280
9401	RECQL4	HP:0001250	Seizure	-	OMIM:218600
9401	RECQL4	HP:0001252	Hypotonia	2/7	OMIM:615777
9401	RECQL4	HP:0001249	Intellectual disability	-	OMIM:218600
9401	RECQL4	HP:0001249	Intellectual disability	13/41	OMIM:268400
9401	RECQL4	HP:0001249	Intellectual disability	-	ORPHA:3021
9401	RECQL4	HP:0001249	Intellectual disability	-	ORPHA:221016
9401	RECQL4	HP:0001249	Intellectual disability	5/7	OMIM:615777
9401	RECQL4	HP:0001263	Global developmental delay	-	OMIM:615777
9401	RECQL4	HP:0007418	Alopecia totalis	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:221016
9401	RECQL4	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0002515	Waddling gait	54/102	OMIM:131300
9401	RECQL4	HP:0000077	Abnormality of the kidney	-	OMIM:218600
9401	RECQL4	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0000069	Abnormality of the ureter	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0001374	Congenital hip dislocation	-	OMIM:268400
9401	RECQL4	HP:0001373	Joint dislocation	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0001373	Joint dislocation	8/14	OMIM:266280
9401	RECQL4	HP:0001382	Joint hypermobility	-	OMIM:615777
9401	RECQL4	HP:0001363	Craniosynostosis	4/6	OMIM:218600
9401	RECQL4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9401	RECQL4	HP:0000028	Cryptorchidism	-	OMIM:268400
9401	RECQL4	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:3021
9401	RECQL4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9401	RECQL4	HP:0007556	Plantar hyperkeratosis	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0008846	Severe intrauterine growth retardation	1/6	OMIM:218600
9401	RECQL4	HP:0007452	Midface capillary hemangioma	-	OMIM:218600
9401	RECQL4	HP:0003995	Abnormality of the radial head	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9401	RECQL4	HP:0001324	Muscle weakness	40/96	OMIM:131300
9401	RECQL4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9401	RECQL4	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0002671	Basal cell carcinoma	-	OMIM:268400
9401	RECQL4	HP:0000007	Autosomal recessive inheritance	-	OMIM:268400
9401	RECQL4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9401	RECQL4	HP:0000007	Autosomal recessive inheritance	-	OMIM:218600
9401	RECQL4	HP:0000007	Autosomal recessive inheritance	-	OMIM:266280
9401	RECQL4	HP:0002669	Osteosarcoma	13/41	OMIM:268400
9401	RECQL4	HP:0002669	Osteosarcoma	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0002669	Osteosarcoma	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0002665	Lymphoma	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0002665	Lymphoma	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9401	RECQL4	HP:0002650	Scoliosis	-	OMIM:218600
9401	RECQL4	HP:0002650	Scoliosis	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0002650	Scoliosis	12/14	OMIM:131300
9401	RECQL4	HP:0003974	Absent radius	1/6	OMIM:218600
9401	RECQL4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9401	RECQL4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9401	RECQL4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9401	RECQL4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9401	RECQL4	HP:0000193	Bifid uvula	-	OMIM:218600
9401	RECQL4	HP:0012165	Oligodactyly	3/6	OMIM:218600
9401	RECQL4	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:221016
9401	RECQL4	HP:0000160	Narrow mouth	1/6	OMIM:218600
9401	RECQL4	HP:0000160	Narrow mouth	HP:0040282	ORPHA:1225
9401	RECQL4	HP:0000175	Cleft palate	-	OMIM:218600
9401	RECQL4	HP:0000175	Cleft palate	-	OMIM:266280
9401	RECQL4	HP:0000175	Cleft palate	HP:0040282	ORPHA:3021
9401	RECQL4	HP:0000175	Cleft palate	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0000175	Cleft palate	2/7	OMIM:615777
9401	RECQL4	HP:0000175	Cleft palate	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0000143	Rectovaginal fistula	-	OMIM:218600
9401	RECQL4	HP:0000135	Hypogonadism	-	OMIM:268400
9401	RECQL4	HP:0006349	Agenesis of permanent teeth	3/43	OMIM:268400
9401	RECQL4	HP:0002705	High, narrow palate	-	OMIM:266280
9401	RECQL4	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0002751	Kyphoscoliosis	-	OMIM:268400
9401	RECQL4	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0002023	Anal atresia	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0002023	Anal atresia	-	OMIM:218600
9401	RECQL4	HP:0002024	Malabsorption	HP:0040282	ORPHA:1225
9401	RECQL4	HP:0002014	Diarrhea	HP:0040282	ORPHA:3021
9401	RECQL4	HP:0002014	Diarrhea	22/24	OMIM:266280
9401	RECQL4	HP:0002014	Diarrhea	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0002013	Vomiting	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0002007	Frontal bossing	12/13	OMIM:268400
9401	RECQL4	HP:0002007	Frontal bossing	HP:0040281	ORPHA:1225
9401	RECQL4	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0003388	Easy fatigability	36/76	OMIM:131300
9401	RECQL4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9401	RECQL4	HP:0100589	Urogenital fistula	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:1225
9401	RECQL4	HP:0009486	Radial deviation of the hand	1/6	OMIM:218600
9401	RECQL4	HP:0003468	Abnormal vertebral morphology	-	OMIM:218600
9401	RECQL4	HP:0002126	Polymicrogyria	-	OMIM:218600
9401	RECQL4	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040282	ORPHA:3021
9401	RECQL4	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040281	ORPHA:1225
9401	RECQL4	HP:0002164	Nail dysplasia	HP:0040282	ORPHA:221016
9401	RECQL4	HP:0003577	Congenital onset	1/6	OMIM:218600
9401	RECQL4	HP:0002223	Absent eyebrow	1/3	OMIM:268400
9401	RECQL4	HP:0200102	Sparse or absent eyelashes	HP:0040282	ORPHA:221016
9401	RECQL4	HP:0002216	Premature graying of hair	-	OMIM:268400
9401	RECQL4	HP:0004871	Perineal fistula	-	OMIM:218600
9401	RECQL4	HP:0002209	Sparse scalp hair	3/3	OMIM:268400
9401	RECQL4	HP:0002209	Sparse scalp hair	0/14	OMIM:266280
9401	RECQL4	HP:0008404	Nail dystrophy	HP:0040282	OMIM:268400
9401	RECQL4	HP:0009700	Finger symphalangism	HP:0040284	ORPHA:221016
9401	RECQL4	HP:0009702	Carpal synostosis	-	OMIM:218600
9401	RECQL4	HP:0011968	Feeding difficulties	1/6	OMIM:218600
9401	RECQL4	HP:0011968	Feeding difficulties	12/14	OMIM:266280
9401	RECQL4	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:3021
9401	RECQL4	HP:0003510	Severe short stature	7/7	OMIM:615777
9401	RECQL4	HP:0003510	Severe short stature	1/6	OMIM:218600
9401	RECQL4	HP:0001029	Poikiloderma	-	ORPHA:3021
9401	RECQL4	HP:0001029	Poikiloderma	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0001029	Poikiloderma	HP:0040281	ORPHA:221016
9401	RECQL4	HP:0001029	Poikiloderma	3/3	OMIM:268400
9401	RECQL4	HP:0001029	Poikiloderma	2/6	OMIM:218600
9401	RECQL4	HP:0001029	Poikiloderma	0/14	OMIM:266280
9401	RECQL4	HP:0001041	Facial erythema	HP:0040282	ORPHA:221016
9401	RECQL4	HP:0001010	Hypopigmentation of the skin	HP:0040281	ORPHA:221016
9401	RECQL4	HP:0001009	Telangiectasia	-	OMIM:268400
9401	RECQL4	HP:0004979	Metaphyseal sclerosis	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0002315	Headache	-	OMIM:131300
9401	RECQL4	HP:0004976	Knee dislocation	6/7	OMIM:615777
9401	RECQL4	HP:0100671	Abnormal trabecular bone morphology	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0009821	Forearm undergrowth	1/6	OMIM:218600
9401	RECQL4	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0001070	Mottled pigmentation	-	OMIM:266280
9401	RECQL4	HP:0200044	Porokeratosis	HP:0040284	ORPHA:221016
9401	RECQL4	HP:0009803	Short phalanx of finger	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0009803	Short phalanx of finger	-	OMIM:615777
9401	RECQL4	HP:0200055	Small hand	12/12	OMIM:268400
9401	RECQL4	HP:0010783	Erythema	1/6	OMIM:218600
9401	RECQL4	HP:0010783	Erythema	HP:0040281	ORPHA:221016
9401	RECQL4	HP:0009777	Absent thumb	3/6	OMIM:218600
9401	RECQL4	HP:0009777	Absent thumb	-	OMIM:266280
9401	RECQL4	HP:0009778	Short thumb	-	OMIM:268400
9401	RECQL4	HP:0009763	Limb pain	63/92	OMIM:131300
9401	RECQL4	HP:0002308	Chiari malformation	1/6	OMIM:218600
9401	RECQL4	HP:0003621	Juvenile onset	-	OMIM:131300
9401	RECQL4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9401	RECQL4	HP:0004279	Short palm	-	OMIM:268400
9401	RECQL4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9401	RECQL4	HP:0004231	Carpal bone aplasia	-	OMIM:218600
9401	RECQL4	HP:0000639	Nystagmus	HP:0040283	ORPHA:1225
9401	RECQL4	HP:6001056	Out-toeing	-	OMIM:131300
9401	RECQL4	HP:0000651	Diplopia	-	OMIM:131300
9401	RECQL4	HP:0000648	Optic atrophy	-	OMIM:218600
9401	RECQL4	HP:0001956	Truncal obesity	2/7	OMIM:615777
9401	RECQL4	HP:0000609	Optic nerve hypoplasia	1/6	OMIM:218600
9401	RECQL4	HP:0000601	Hypotelorism	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0001909	Leukemia	HP:0040284	ORPHA:221016
9401	RECQL4	HP:0001903	Anemia	HP:0040283	OMIM:131300
9401	RECQL4	HP:0001903	Anemia	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0001915	Aplastic anemia	HP:0040284	ORPHA:221016
9401	RECQL4	HP:0010049	Short metacarpal	-	OMIM:615777
9401	RECQL4	HP:0010049	Short metacarpal	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0010048	Aplasia of metacarpal bones	-	OMIM:218600
9401	RECQL4	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0000684	Delayed eruption of teeth	42/42	OMIM:268400
9401	RECQL4	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0011341	Long upper lip	1/6	OMIM:218600
9401	RECQL4	HP:0000678	Dental crowding	-	OMIM:615777
9401	RECQL4	HP:0000691	Microdontia	-	OMIM:268400
9401	RECQL4	HP:0000691	Microdontia	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0000685	Hypoplasia of teeth	2/2	OMIM:268400
9401	RECQL4	HP:0011318	Bicoronal synostosis	-	OMIM:218600
9401	RECQL4	HP:0000653	Sparse eyelashes	2/3	OMIM:268400
9401	RECQL4	HP:0000653	Sparse eyelashes	0/13	OMIM:266280
9401	RECQL4	HP:0000670	Carious teeth	-	OMIM:131300
9401	RECQL4	HP:0000670	Carious teeth	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0011304	Broad thumb	2/7	OMIM:615777
9401	RECQL4	HP:0000668	Hypodontia	-	OMIM:615777
9401	RECQL4	HP:0000664	Synophrys	-	OMIM:615777
9401	RECQL4	HP:0004322	Short stature	-	OMIM:218600
9401	RECQL4	HP:0004322	Short stature	13/14	OMIM:266280
9401	RECQL4	HP:0004322	Short stature	13/13	OMIM:268400
9401	RECQL4	HP:0004322	Short stature	HP:0040281	ORPHA:1225
9401	RECQL4	HP:0004322	Short stature	HP:0040282	ORPHA:221016
9401	RECQL4	HP:0004334	Dermal atrophy	HP:0040282	ORPHA:221016
9401	RECQL4	HP:0004334	Dermal atrophy	-	OMIM:268400
9401	RECQL4	HP:0004334	Dermal atrophy	1/6	OMIM:218600
9401	RECQL4	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040283	ORPHA:3021
9401	RECQL4	HP:0030680	Abnormal cardiovascular system morphology	-	OMIM:218600
9401	RECQL4	HP:0004396	Poor appetite	-	OMIM:131300
9401	RECQL4	HP:0003065	Patellar hypoplasia	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0003065	Patellar hypoplasia	1/6	OMIM:218600
9401	RECQL4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9401	RECQL4	HP:0003031	Ulnar bowing	-	OMIM:218600
9401	RECQL4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9401	RECQL4	HP:0034197	Third trimester onset	2/6	OMIM:218600
9401	RECQL4	HP:0034198	Second trimester onset	1/6	OMIM:218600
9401	RECQL4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9401	RECQL4	HP:0003026	Short long bone	7/7	OMIM:615777
9401	RECQL4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9401	RECQL4	HP:0003022	Hypoplasia of the ulna	-	OMIM:218600
9401	RECQL4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9401	RECQL4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9401	RECQL4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9401	RECQL4	HP:0000750	Delayed speech and language development	-	OMIM:615777
9401	RECQL4	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0011461	Fetal onset	7/7	OMIM:615777
9401	RECQL4	HP:0000774	Narrow chest	2/7	OMIM:615777
9401	RECQL4	HP:0005775	Multiple skeletal anomalies	HP:0040282	ORPHA:221016
9401	RECQL4	HP:0004443	Lambdoidal craniosynostosis	1/6	OMIM:218600
9401	RECQL4	HP:0004442	Sagittal craniosynostosis	-	OMIM:218600
9401	RECQL4	HP:0004440	Coronal craniosynostosis	1/6	OMIM:218600
9401	RECQL4	HP:0004425	Flat forehead	-	OMIM:218600
9401	RECQL4	HP:0003196	Short nose	-	OMIM:268400
9401	RECQL4	HP:0003196	Short nose	HP:0040282	ORPHA:1225
9401	RECQL4	HP:0000926	Platyspondyly	1/7	OMIM:615777
9401	RECQL4	HP:0003189	Long nose	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0003180	Flat acetabular roof	-	OMIM:615777
9401	RECQL4	HP:0000902	Rib fusion	-	OMIM:218600
9401	RECQL4	HP:0004482	Relative macrocephaly	-	OMIM:615777
9401	RECQL4	HP:0005792	Short humerus	-	OMIM:218600
9401	RECQL4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9401	RECQL4	HP:0000823	Delayed puberty	-	OMIM:131300
9401	RECQL4	HP:0040064	Abnormality of limbs	HP:0040282	ORPHA:3021
9401	RECQL4	HP:0000894	Short clavicles	-	OMIM:615777
9401	RECQL4	HP:0005886	Aphalangy of the hands	-	OMIM:218600
9401	RECQL4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9401	RECQL4	HP:0003298	Spina bifida occulta	-	OMIM:218600
9401	RECQL4	HP:0045075	Sparse eyebrow	2/3	OMIM:268400
9401	RECQL4	HP:0045075	Sparse eyebrow	0/13	OMIM:266280
9401	RECQL4	HP:0000992	Cutaneous photosensitivity	-	OMIM:268400
9401	RECQL4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9401	RECQL4	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:221016
9401	RECQL4	HP:0000939	Osteoporosis	-	OMIM:268400
9401	RECQL4	HP:0000938	Osteopenia	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0045025	Narrow palpebral fissure	3/3	OMIM:268400
9401	RECQL4	HP:0045025	Narrow palpebral fissure	-	OMIM:266280
9401	RECQL4	HP:0100238	Synostosis involving bones of the upper limbs	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0008070	Sparse hair	50%	OMIM:268400
9401	RECQL4	HP:0008070	Sparse hair	HP:0040282	ORPHA:221016
9401	RECQL4	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0009380	Finger aplasia	HP:0040281	ORPHA:1225
9401	RECQL4	HP:0000286	Epicanthus	-	OMIM:218600
9401	RECQL4	HP:0000286	Epicanthus	3/3	OMIM:268400
9401	RECQL4	HP:0000286	Epicanthus	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0000286	Epicanthus	1/7	OMIM:615777
9401	RECQL4	HP:0000282	Facial edema	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0000280	Coarse facial features	2/7	OMIM:615777
9401	RECQL4	HP:0000263	Oxycephaly	1/6	OMIM:218600
9401	RECQL4	HP:0001596	Alopecia	-	OMIM:268400
9401	RECQL4	HP:0000260	Wide anterior fontanel	3/6	OMIM:218600
9401	RECQL4	HP:0000262	Turricephaly	1/6	OMIM:218600
9401	RECQL4	HP:0000275	Narrow face	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0000276	Long face	-	OMIM:266280
9401	RECQL4	HP:0006467	Limited shoulder movement	-	OMIM:218600
9401	RECQL4	HP:0006443	Patellar aplasia	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0006443	Patellar aplasia	1/6	OMIM:218600
9401	RECQL4	HP:0002827	Hip dislocation	3/7	OMIM:615777
9401	RECQL4	HP:0006368	Forearm reduction defects	-	OMIM:268400
9401	RECQL4	HP:0000244	Brachyturricephaly	1/6	OMIM:218600
9401	RECQL4	HP:0000244	Brachyturricephaly	HP:0040281	ORPHA:1225
9401	RECQL4	HP:0000239	Large fontanelles	HP:0040281	ORPHA:1225
9401	RECQL4	HP:0000239	Large fontanelles	1/6	OMIM:218600
9401	RECQL4	HP:0000238	Hydrocephalus	1/6	OMIM:218600
9401	RECQL4	HP:0000252	Microcephaly	-	OMIM:615777
9401	RECQL4	HP:0000248	Brachycephaly	2/6	OMIM:218600
9401	RECQL4	HP:0000248	Brachycephaly	HP:0040281	ORPHA:1225
9401	RECQL4	HP:0000218	High palate	-	OMIM:218600
9401	RECQL4	HP:0000218	High palate	-	OMIM:266280
9401	RECQL4	HP:0000218	High palate	HP:0040282	ORPHA:3021
9401	RECQL4	HP:0000218	High palate	1/1	OMIM:268400
9401	RECQL4	HP:0000218	High palate	HP:0040282	ORPHA:1225
9401	RECQL4	HP:0000218	High palate	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0001545	Anteriorly placed anus	-	OMIM:268400
9401	RECQL4	HP:0001545	Anteriorly placed anus	HP:0040282	ORPHA:1225
9401	RECQL4	HP:0001545	Anteriorly placed anus	3/6	OMIM:218600
9401	RECQL4	HP:0000233	Thin vermilion border	1/6	OMIM:218600
9401	RECQL4	HP:0002861	Melanoma	HP:0040284	ORPHA:221016
9401	RECQL4	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:1225
9401	RECQL4	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0002860	Squamous cell carcinoma	-	OMIM:268400
9401	RECQL4	HP:0002857	Genu valgum	-	OMIM:131300
9401	RECQL4	HP:0002870	Obstructive sleep apnea	1/6	OMIM:218600
9401	RECQL4	HP:0001533	Slender build	-	OMIM:131300
9401	RECQL4	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0031367	Metaphyseal striations	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0001518	Small for gestational age	HP:0040282	OMIM:268400
9401	RECQL4	HP:0001518	Small for gestational age	HP:0040282	ORPHA:221016
9401	RECQL4	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3021
9401	RECQL4	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1225
9401	RECQL4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9401	RECQL4	HP:0001510	Growth delay	HP:0040281	ORPHA:1225
9401	RECQL4	HP:0001510	Growth delay	HP:0040282	ORPHA:221016
9401	RECQL4	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040282	ORPHA:3021
9401	RECQL4	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:1225
9401	RECQL4	HP:0006501	Aplasia/Hypoplasia of the radius	14/14	OMIM:266280
9401	RECQL4	HP:0007807	Optic nerve compression	-	OMIM:131300
9401	RECQL4	HP:0011069	Supernumerary tooth	-	OMIM:268400
9401	RECQL4	HP:0012368	Flat face	7/7	OMIM:615777
9401	RECQL4	HP:0000396	Overfolded helix	1/2	OMIM:268400
9401	RECQL4	HP:0000395	Prominent antihelix	2/2	OMIM:268400
9401	RECQL4	HP:0005201	Anomalous splenoportal venous system	-	OMIM:218600
9401	RECQL4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9401	RECQL4	HP:0005198	Stiff interphalangeal joints	-	OMIM:266280
9401	RECQL4	HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0006498	Aplasia/Hypoplasia of the patella	HP:0040282	ORPHA:3021
9401	RECQL4	HP:0006498	Aplasia/Hypoplasia of the patella	HP:0040282	ORPHA:1225
9401	RECQL4	HP:0006498	Aplasia/Hypoplasia of the patella	12/14	OMIM:266280
9401	RECQL4	HP:0006487	Bowing of the long bones	HP:0040282	ORPHA:1225
9401	RECQL4	HP:0000365	Hearing impairment	-	OMIM:266280
9401	RECQL4	HP:0000365	Hearing impairment	10/67	OMIM:131300
9401	RECQL4	HP:0000358	Posteriorly rotated ears	-	OMIM:218600
9401	RECQL4	HP:0011003	High myopia	1/6	OMIM:218600
9401	RECQL4	HP:0000369	Low-set ears	-	OMIM:218600
9401	RECQL4	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0000343	Long philtrum	1/7	OMIM:615777
9401	RECQL4	HP:0011001	Increased bone mineral density	-	OMIM:131300
9401	RECQL4	HP:0000337	Broad forehead	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0002996	Limited elbow movement	-	OMIM:218600
9401	RECQL4	HP:0000347	Micrognathia	1/6	OMIM:218600
9401	RECQL4	HP:0000347	Micrognathia	3/3	OMIM:268400
9401	RECQL4	HP:0000347	Micrognathia	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0000316	Hypertelorism	-	OMIM:218600
9401	RECQL4	HP:0000316	Hypertelorism	3/3	OMIM:268400
9401	RECQL4	HP:0000316	Hypertelorism	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0000311	Round face	2/7	OMIM:615777
9401	RECQL4	HP:0000331	Short chin	-	OMIM:266280
9401	RECQL4	HP:0002984	Hypoplasia of the radius	2/6	OMIM:218600
9401	RECQL4	HP:0001627	Abnormal heart morphology	-	OMIM:218600
9401	RECQL4	HP:0002970	Genu varum	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0002970	Genu varum	-	OMIM:615777
9401	RECQL4	HP:0000303	Mandibular prognathia	-	OMIM:268400
9401	RECQL4	HP:0000303	Mandibular prognathia	-	OMIM:131300
9401	RECQL4	HP:0004039	Abnormal ulnar metaphysis morphology	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0001734	Annular pancreas	-	OMIM:268400
9401	RECQL4	HP:0000405	Conductive hearing impairment	-	OMIM:218600
9401	RECQL4	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0005280	Depressed nasal bridge	3/3	OMIM:268400
9401	RECQL4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9401	RECQL4	HP:0000483	Astigmatism	1/6	OMIM:218600
9401	RECQL4	HP:0000486	Strabismus	-	OMIM:218600
9401	RECQL4	HP:0000486	Strabismus	-	OMIM:268400
9401	RECQL4	HP:0000482	Microcornea	-	OMIM:268400
9401	RECQL4	HP:0000494	Downslanted palpebral fissures	-	OMIM:218600
9401	RECQL4	HP:0011120	Concave nasal ridge	1/6	OMIM:218600
9401	RECQL4	HP:0000470	Short neck	1/7	OMIM:615777
9401	RECQL4	HP:0001773	Short foot	-	OMIM:268400
9401	RECQL4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9401	RECQL4	HP:0001763	Pes planus	1/7	OMIM:615777
9401	RECQL4	HP:0000452	Choanal stenosis	-	OMIM:218600
9401	RECQL4	HP:0000446	Narrow nasal bridge	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0000417	Slender nose	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0000417	Slender nose	HP:0040282	ORPHA:3021
9401	RECQL4	HP:0000417	Slender nose	-	OMIM:266280
9401	RECQL4	HP:0000410	Mixed hearing impairment	1/6	OMIM:218600
9401	RECQL4	HP:0001762	Talipes equinovarus	-	OMIM:268400
9401	RECQL4	HP:0000430	Underdeveloped nasal alae	-	OMIM:218600
9401	RECQL4	HP:0000426	Prominent nasal bridge	-	OMIM:218600
9401	RECQL4	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:1225
9401	RECQL4	HP:0005403	Decreased total T cell count	HP:0040283	ORPHA:3021
9401	RECQL4	HP:0000518	Cataract	2/41	OMIM:268400
9401	RECQL4	HP:0000519	Developmental cataract	HP:0040283	ORPHA:221016
9401	RECQL4	HP:0001840	Metatarsus adductus	-	OMIM:615777
9401	RECQL4	HP:0000520	Proptosis	2/4	OMIM:131300
9401	RECQL4	HP:0000520	Proptosis	HP:0040281	ORPHA:1225
9401	RECQL4	HP:0000520	Proptosis	7/7	OMIM:615777
9401	RECQL4	HP:0000501	Glaucoma	-	OMIM:268400
9401	RECQL4	HP:0000581	Blepharophimosis	-	OMIM:266280
9401	RECQL4	HP:0000592	Blue sclerae	2/7	OMIM:615777
9401	RECQL4	HP:0000561	Absent eyelashes	1/3	OMIM:268400
9401	RECQL4	HP:0011220	Prominent forehead	1/6	OMIM:218600
9401	RECQL4	HP:0000568	Microphthalmia	13/13	OMIM:268400
9401	RECQL4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9401	RECQL4	HP:0012514	Lower limb pain	4/4	OMIM:131300
9401	RECQL4	HP:0000545	Myopia	-	OMIM:218600
9401	RECQL4	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:221016
9409	PEX16	HP:0001133	Constriction of peripheral visual field	HP:0040281	ORPHA:772
9409	PEX16	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:912
9409	PEX16	HP:0002415	Leukodystrophy	-	OMIM:614877
9409	PEX16	HP:0001290	Generalized hypotonia	-	OMIM:614876
9409	PEX16	HP:0001276	Hypertonia	1/4	OMIM:614877
9409	PEX16	HP:0001272	Cerebellar atrophy	1/4	OMIM:614877
9409	PEX16	HP:0001250	Seizure	HP:0040283	ORPHA:772
9409	PEX16	HP:0001250	Seizure	HP:0040281	ORPHA:44
9409	PEX16	HP:0001250	Seizure	-	OMIM:614876
9409	PEX16	HP:0001250	Seizure	HP:0040282	ORPHA:912
9409	PEX16	HP:0001252	Hypotonia	HP:0040282	ORPHA:772
9409	PEX16	HP:0001252	Hypotonia	HP:0040281	ORPHA:44
9409	PEX16	HP:0001251	Ataxia	HP:0040282	ORPHA:772
9409	PEX16	HP:0001251	Ataxia	2/4	OMIM:614877
9409	PEX16	HP:0001249	Intellectual disability	1/4	OMIM:614877
9409	PEX16	HP:0001260	Dysarthria	3/4	OMIM:614877
9409	PEX16	HP:0001263	Global developmental delay	HP:0040281	ORPHA:772
9409	PEX16	HP:0001263	Global developmental delay	-	OMIM:614877
9409	PEX16	HP:0001257	Spasticity	HP:0040282	ORPHA:772
9409	PEX16	HP:0001257	Spasticity	2/4	OMIM:614877
9409	PEX16	HP:0007371	Corpus callosum atrophy	2/4	OMIM:614877
9409	PEX16	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:912
9409	PEX16	HP:0002505	Loss of ambulation	2/4	OMIM:614877
9409	PEX16	HP:0002500	Abnormal cerebral white matter morphology	1/4	OMIM:614877
9409	PEX16	HP:0001399	Hepatic failure	HP:0040281	ORPHA:912
9409	PEX16	HP:0001392	Abnormality of the liver	HP:0040281	ORPHA:44
9409	PEX16	HP:0000047	Hypospadias	HP:0040282	ORPHA:912
9409	PEX16	HP:0001348	Brisk reflexes	2/4	OMIM:614877
9409	PEX16	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:44
9409	PEX16	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:912
9409	PEX16	HP:0008872	Feeding difficulties in infancy	-	OMIM:614876
9409	PEX16	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:912
9409	PEX16	HP:0000007	Autosomal recessive inheritance	-	OMIM:614877
9409	PEX16	HP:0000007	Autosomal recessive inheritance	-	OMIM:614876
9409	PEX16	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:912
9409	PEX16	HP:0001310	Dysmetria	2/4	OMIM:614877
9409	PEX16	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:912
9409	PEX16	HP:0001319	Neonatal hypotonia	-	OMIM:614877
9409	PEX16	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:912
9409	PEX16	HP:0000162	Glossoptosis	-	OMIM:614876
9409	PEX16	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:912
9409	PEX16	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:44
9409	PEX16	HP:0008935	Generalized neonatal hypotonia	-	OMIM:614876
9409	PEX16	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:44
9409	PEX16	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:912
9409	PEX16	HP:0001410	Decreased liver function	-	OMIM:614877
9409	PEX16	HP:0002024	Malabsorption	HP:0040282	ORPHA:912
9409	PEX16	HP:0002021	Pyloric stenosis	HP:0040282	ORPHA:912
9409	PEX16	HP:0002019	Constipation	2/4	OMIM:614877
9409	PEX16	HP:0002015	Dysphagia	1/4	OMIM:614877
9409	PEX16	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:772
9409	PEX16	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:912
9409	PEX16	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:912
9409	PEX16	HP:0002066	Gait ataxia	1/4	OMIM:614877
9409	PEX16	HP:0002063	Rigidity	1/4	OMIM:614877
9409	PEX16	HP:0002061	Lower limb spasticity	1/4	OMIM:614877
9409	PEX16	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:772
9409	PEX16	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:772
9409	PEX16	HP:0008167	Very long chain fatty acid accumulation	6/6	OMIM:614877
9409	PEX16	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:912
9409	PEX16	HP:0003487	Babinski sign	1/4	OMIM:614877
9409	PEX16	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:912
9409	PEX16	HP:0002169	Clonus	1/4	OMIM:614877
9409	PEX16	HP:0010571	Elevated circulating phytanic acid concentration	HP:0040281	ORPHA:772
9409	PEX16	HP:0010571	Elevated circulating phytanic acid concentration	6/6	OMIM:614877
9409	PEX16	HP:0008207	Primary adrenal insufficiency	HP:0040281	ORPHA:44
9409	PEX16	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:912
9409	PEX16	HP:0003593	Infantile onset	2/4	OMIM:614877
9409	PEX16	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:44
9409	PEX16	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:772
9409	PEX16	HP:0002240	Hepatomegaly	-	OMIM:614876
9409	PEX16	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:912
9409	PEX16	HP:0200085	Limb tremor	1/4	OMIM:614877
9409	PEX16	HP:0010655	Epiphyseal stippling	-	OMIM:614876
9409	PEX16	HP:0010655	Epiphyseal stippling	HP:0040281	ORPHA:912
9409	PEX16	HP:0010628	Facial palsy	HP:0040283	ORPHA:772
9409	PEX16	HP:0002359	Frequent falls	2/4	OMIM:614877
9409	PEX16	HP:0002376	Developmental regression	HP:0040281	ORPHA:44
9409	PEX16	HP:0003676	Progressive	-	OMIM:614877
9409	PEX16	HP:0002353	EEG abnormality	HP:0040281	ORPHA:44
9409	PEX16	HP:0002353	EEG abnormality	HP:0040281	ORPHA:912
9409	PEX16	HP:0002317	Unsteady gait	1/4	OMIM:614877
9409	PEX16	HP:0002313	Spastic paraparesis	-	OMIM:614877
9409	PEX16	HP:0009830	Peripheral neuropathy	1/4	OMIM:614877
9409	PEX16	HP:0001088	Brushfield spots	HP:0040283	ORPHA:912
9409	PEX16	HP:0006855	Cerebellar vermis atrophy	-	OMIM:614877
9409	PEX16	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:912
9409	PEX16	HP:0000639	Nystagmus	HP:0040282	ORPHA:772
9409	PEX16	HP:0000639	Nystagmus	HP:0040281	ORPHA:44
9409	PEX16	HP:0000639	Nystagmus	1/4	OMIM:614877
9409	PEX16	HP:0000639	Nystagmus	HP:0040282	ORPHA:912
9409	PEX16	HP:0000648	Optic atrophy	HP:0040283	ORPHA:772
9409	PEX16	HP:0000648	Optic atrophy	1/4	OMIM:614877
9409	PEX16	HP:0000648	Optic atrophy	HP:0040281	ORPHA:44
9409	PEX16	HP:0000648	Optic atrophy	HP:0040282	ORPHA:912
9409	PEX16	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:912
9409	PEX16	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:912
9409	PEX16	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:44
9409	PEX16	HP:0011344	Severe global developmental delay	-	OMIM:614876
9409	PEX16	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:44
9409	PEX16	HP:0000662	Nyctalopia	HP:0040281	ORPHA:772
9409	PEX16	HP:0000666	Horizontal nystagmus	1/4	OMIM:614877
9409	PEX16	HP:0004322	Short stature	HP:0040281	ORPHA:772
9409	PEX16	HP:0004322	Short stature	HP:0040281	ORPHA:44
9409	PEX16	HP:0004322	Short stature	HP:0040281	ORPHA:912
9409	PEX16	HP:0031956	Elevated circulating aspartate aminotransferase concentration	-	OMIM:614876
9409	PEX16	HP:0012736	Profound global developmental delay	HP:0040281	ORPHA:912
9409	PEX16	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:44
9409	PEX16	HP:0000708	Atypical behavior	HP:0040282	ORPHA:772
9409	PEX16	HP:0011463	Childhood onset	2/4	OMIM:614877
9409	PEX16	HP:0011448	Ankle clonus	1/4	OMIM:614877
9409	PEX16	HP:0000952	Jaundice	-	OMIM:614876
9409	PEX16	HP:0000952	Jaundice	HP:0040281	ORPHA:912
9409	PEX16	HP:0008064	Ichthyosis	HP:0040283	ORPHA:772
9409	PEX16	HP:0011675	Arrhythmia	HP:0040283	ORPHA:772
9409	PEX16	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:44
9409	PEX16	HP:0000286	Epicanthus	HP:0040281	ORPHA:912
9409	PEX16	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:44
9409	PEX16	HP:0000260	Wide anterior fontanel	HP:0040281	ORPHA:912
9409	PEX16	HP:0000256	Macrocephaly	HP:0040282	ORPHA:44
9409	PEX16	HP:0000256	Macrocephaly	HP:0040282	ORPHA:912
9409	PEX16	HP:0000271	Abnormality of the face	HP:0040283	ORPHA:772
9409	PEX16	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:44
9409	PEX16	HP:0000252	Microcephaly	HP:0040282	ORPHA:912
9409	PEX16	HP:0000218	High palate	HP:0040282	ORPHA:912
9409	PEX16	HP:0001522	Death in infancy	-	OMIM:614876
9409	PEX16	HP:0001522	Death in infancy	HP:0040281	ORPHA:912
9409	PEX16	HP:0001508	Failure to thrive	HP:0040281	ORPHA:772
9409	PEX16	HP:0001508	Failure to thrive	-	OMIM:614877
9409	PEX16	HP:0001508	Failure to thrive	HP:0040281	ORPHA:912
9409	PEX16	HP:0030051	Tip-toe gait	1/4	OMIM:614877
9409	PEX16	HP:0011096	Peripheral demyelination	1/4	OMIM:614877
9409	PEX16	HP:0012368	Flat face	HP:0040281	ORPHA:912
9409	PEX16	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:912
9409	PEX16	HP:0000365	Hearing impairment	HP:0040282	ORPHA:772
9409	PEX16	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:44
9409	PEX16	HP:0000348	High forehead	HP:0040281	ORPHA:44
9409	PEX16	HP:0000348	High forehead	HP:0040281	ORPHA:912
9409	PEX16	HP:0000347	Micrognathia	HP:0040282	ORPHA:912
9409	PEX16	HP:0001629	Ventricular septal defect	-	OMIM:614876
9409	PEX16	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:912
9409	PEX16	HP:0001622	Premature birth	HP:0040282	ORPHA:912
9409	PEX16	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:772
9409	PEX16	HP:0007957	Corneal opacity	HP:0040281	ORPHA:912
9409	PEX16	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:772
9409	PEX16	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:44
9409	PEX16	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:912
9409	PEX16	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:912
9409	PEX16	HP:0000486	Strabismus	HP:0040281	ORPHA:44
9409	PEX16	HP:0000463	Anteverted nares	HP:0040281	ORPHA:44
9409	PEX16	HP:0012444	Brain atrophy	1/4	OMIM:614877
9409	PEX16	HP:0000474	Thickened nuchal skin fold	HP:0040283	ORPHA:912
9409	PEX16	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:44
9409	PEX16	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:912
9409	PEX16	HP:0005469	Flat occiput	HP:0040282	ORPHA:912
9409	PEX16	HP:0000518	Cataract	HP:0040283	ORPHA:772
9409	PEX16	HP:0000518	Cataract	3/4	OMIM:614877
9409	PEX16	HP:0000518	Cataract	-	OMIM:614876
9409	PEX16	HP:0000518	Cataract	HP:0040282	ORPHA:44
9409	PEX16	HP:0000518	Cataract	HP:0040282	ORPHA:912
9409	PEX16	HP:0000510	Rod-cone dystrophy	HP:0040281	ORPHA:772
9409	PEX16	HP:0000508	Ptosis	HP:0040282	ORPHA:44
9409	PEX16	HP:0000505	Visual impairment	HP:0040281	ORPHA:772
9409	PEX16	HP:0000505	Visual impairment	-	OMIM:614877
9409	PEX16	HP:0000505	Visual impairment	HP:0040282	ORPHA:44
9409	PEX16	HP:0000505	Visual impairment	HP:0040282	ORPHA:912
9409	PEX16	HP:0000501	Glaucoma	HP:0040283	ORPHA:912
9409	PEX16	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:912
9409	PEX16	HP:0000556	Retinal dystrophy	-	OMIM:614877
9409	PEX16	HP:0012534	Dysesthesia	1/4	OMIM:614877
9409	PEX16	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:912
9411	ARHGAP29	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199306
9411	ARHGAP29	HP:0000175	Cleft palate	HP:0040282	ORPHA:199306
9411	ARHGAP29	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:199306
9411	ARHGAP29	HP:0006292	Abnormality of dental eruption	HP:0040281	ORPHA:199306
9411	ARHGAP29	HP:0002033	Poor suck	HP:0040282	ORPHA:199306
9411	ARHGAP29	HP:0200153	Agenesis of lateral incisor	HP:0040283	ORPHA:199306
9411	ARHGAP29	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:199306
9411	ARHGAP29	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:199306
9411	ARHGAP29	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:199306
9411	ARHGAP29	HP:0004395	Malnutrition	HP:0040283	ORPHA:199306
9411	ARHGAP29	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:199306
9411	ARHGAP29	HP:0100337	Bilateral cleft palate	HP:0040283	ORPHA:199306
9411	ARHGAP29	HP:0100334	Unilateral cleft palate	HP:0040282	ORPHA:199306
9411	ARHGAP29	HP:0010294	Palate fistula	HP:0040283	ORPHA:199306
9411	ARHGAP29	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:199306
9411	ARHGAP29	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:199306
9411	ARHGAP29	HP:0011044	Abnormal number of permanent teeth	HP:0040283	ORPHA:199306
9411	ARHGAP29	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:199306
9411	ARHGAP29	HP:0000327	Hypoplasia of the maxilla	HP:0040284	ORPHA:199306
9411	ARHGAP29	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:199306
9411	ARHGAP29	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:199306
9414	TJP2	HP:0002570	Steatorrhea	-	OMIM:607748
9414	TJP2	HP:0001399	Hepatic failure	11/14	OMIM:615878
9414	TJP2	HP:0001394	Cirrhosis	2/2	OMIM:615878
9414	TJP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615878
9414	TJP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:607748
9414	TJP2	HP:0002630	Fat malabsorption	-	OMIM:607748
9414	TJP2	HP:0001409	Portal hypertension	2/12	OMIM:615878
9414	TJP2	HP:0001406	Intrahepatic cholestasis	14/14	OMIM:615878
9414	TJP2	HP:0001402	Hepatocellular carcinoma	2/2	OMIM:615878
9414	TJP2	HP:0002748	Rickets	-	OMIM:607748
9414	TJP2	HP:0011892	Decreased circulating vitamin K concentration	-	OMIM:607748
9414	TJP2	HP:0003593	Infantile onset	1/2	OMIM:615878
9414	TJP2	HP:0003676	Progressive	-	OMIM:615878
9414	TJP2	HP:0003623	Neonatal onset	1/2	OMIM:615878
9414	TJP2	HP:0000989	Pruritus	-	OMIM:607748
9414	TJP2	HP:0012202	Increased serum bile acid concentration	-	OMIM:607748
9414	TJP2	HP:0001508	Failure to thrive	-	OMIM:607748
9419	CRIPT	HP:0001156	Brachydactyly	2/2	OMIM:615789
9419	CRIPT	HP:0001159	Syndactyly	-	OMIM:615789
9419	CRIPT	HP:0009882	Short distal phalanx of finger	12/12	OMIM:615789
9419	CRIPT	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9419	CRIPT	HP:0001293	Cranial nerve compression	-	OMIM:131300
9419	CRIPT	HP:0001252	Hypotonia	2/7	OMIM:615777
9419	CRIPT	HP:0001249	Intellectual disability	5/7	OMIM:615777
9419	CRIPT	HP:0001263	Global developmental delay	-	OMIM:615777
9419	CRIPT	HP:0002515	Waddling gait	54/102	OMIM:131300
9419	CRIPT	HP:0001382	Joint hypermobility	-	OMIM:615777
9419	CRIPT	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9419	CRIPT	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9419	CRIPT	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9419	CRIPT	HP:0001324	Muscle weakness	40/96	OMIM:131300
9419	CRIPT	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9419	CRIPT	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9419	CRIPT	HP:0000007	Autosomal recessive inheritance	-	OMIM:615789
9419	CRIPT	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9419	CRIPT	HP:0002650	Scoliosis	12/14	OMIM:131300
9419	CRIPT	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9419	CRIPT	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9419	CRIPT	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9419	CRIPT	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9419	CRIPT	HP:0000175	Cleft palate	2/7	OMIM:615777
9419	CRIPT	HP:0002719	Recurrent infections	1/2	OMIM:615789
9419	CRIPT	HP:0002007	Frontal bossing	2/2	OMIM:615789
9419	CRIPT	HP:0002079	Hypoplasia of the corpus callosum	1/2	OMIM:615789
9419	CRIPT	HP:0003388	Easy fatigability	36/76	OMIM:131300
9419	CRIPT	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9419	CRIPT	HP:0009623	Proximal placement of thumb	-	OMIM:615789
9419	CRIPT	HP:0011927	Short digit	-	OMIM:615789
9419	CRIPT	HP:0003577	Congenital onset	2/2	OMIM:615789
9419	CRIPT	HP:0002209	Sparse scalp hair	2/2	OMIM:615789
9419	CRIPT	HP:0003510	Severe short stature	7/7	OMIM:615777
9419	CRIPT	HP:0003510	Severe short stature	2/2	OMIM:615789
9419	CRIPT	HP:0004823	Anisopoikilocytosis	1/2	OMIM:615789
9419	CRIPT	HP:0002384	Focal impaired awareness seizure	-	OMIM:615789
9419	CRIPT	HP:0002315	Headache	-	OMIM:131300
9419	CRIPT	HP:0004976	Knee dislocation	6/7	OMIM:615777
9419	CRIPT	HP:0009803	Short phalanx of finger	-	OMIM:615777
9419	CRIPT	HP:0009763	Limb pain	63/92	OMIM:131300
9419	CRIPT	HP:0003621	Juvenile onset	-	OMIM:131300
9419	CRIPT	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9419	CRIPT	HP:0005590	Spotty hypopigmentation	1/2	OMIM:615789
9419	CRIPT	HP:0005585	Spotty hyperpigmentation	-	OMIM:615789
9419	CRIPT	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9419	CRIPT	HP:0000639	Nystagmus	-	OMIM:615789
9419	CRIPT	HP:6001056	Out-toeing	-	OMIM:131300
9419	CRIPT	HP:0000651	Diplopia	-	OMIM:131300
9419	CRIPT	HP:0001956	Truncal obesity	2/7	OMIM:615777
9419	CRIPT	HP:0001903	Anemia	HP:0040283	OMIM:131300
9419	CRIPT	HP:0001903	Anemia	1/2	OMIM:615789
9419	CRIPT	HP:0010049	Short metacarpal	-	OMIM:615777
9419	CRIPT	HP:0000678	Dental crowding	-	OMIM:615777
9419	CRIPT	HP:0000670	Carious teeth	-	OMIM:131300
9419	CRIPT	HP:0011304	Broad thumb	2/7	OMIM:615777
9419	CRIPT	HP:0000668	Hypodontia	-	OMIM:615777
9419	CRIPT	HP:0000664	Synophrys	-	OMIM:615777
9419	CRIPT	HP:0004325	Decreased body weight	2/2	OMIM:615789
9419	CRIPT	HP:0004396	Poor appetite	-	OMIM:131300
9419	CRIPT	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9419	CRIPT	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9419	CRIPT	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9419	CRIPT	HP:0003026	Short long bone	7/7	OMIM:615777
9419	CRIPT	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9419	CRIPT	HP:0012736	Profound global developmental delay	-	OMIM:615789
9419	CRIPT	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9419	CRIPT	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9419	CRIPT	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9419	CRIPT	HP:0000750	Delayed speech and language development	-	OMIM:615777
9419	CRIPT	HP:0011461	Fetal onset	7/7	OMIM:615777
9419	CRIPT	HP:0000774	Narrow chest	2/7	OMIM:615777
9419	CRIPT	HP:0000926	Platyspondyly	1/7	OMIM:615777
9419	CRIPT	HP:0003180	Flat acetabular roof	-	OMIM:615777
9419	CRIPT	HP:0004482	Relative macrocephaly	-	OMIM:615777
9419	CRIPT	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9419	CRIPT	HP:0000823	Delayed puberty	-	OMIM:131300
9419	CRIPT	HP:0000894	Short clavicles	-	OMIM:615777
9419	CRIPT	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9419	CRIPT	HP:0045075	Sparse eyebrow	2/2	OMIM:615789
9419	CRIPT	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9419	CRIPT	HP:0000938	Osteopenia	2/2	OMIM:615789
9419	CRIPT	HP:0000286	Epicanthus	1/7	OMIM:615777
9419	CRIPT	HP:0000280	Coarse facial features	2/7	OMIM:615777
9419	CRIPT	HP:0002827	Hip dislocation	3/7	OMIM:615777
9419	CRIPT	HP:0000252	Microcephaly	-	OMIM:615777
9419	CRIPT	HP:0000252	Microcephaly	2/2	OMIM:615789
9419	CRIPT	HP:0002857	Genu valgum	-	OMIM:131300
9419	CRIPT	HP:0001522	Death in infancy	1/2	OMIM:615789
9419	CRIPT	HP:0001533	Slender build	-	OMIM:131300
9419	CRIPT	HP:0001518	Small for gestational age	4/4	OMIM:615789
9419	CRIPT	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9419	CRIPT	HP:0007807	Optic nerve compression	-	OMIM:131300
9419	CRIPT	HP:0012368	Flat face	7/7	OMIM:615777
9419	CRIPT	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9419	CRIPT	HP:0000365	Hearing impairment	10/67	OMIM:131300
9419	CRIPT	HP:0011003	High myopia	-	OMIM:615789
9419	CRIPT	HP:0000343	Long philtrum	1/7	OMIM:615777
9419	CRIPT	HP:0011001	Increased bone mineral density	-	OMIM:131300
9419	CRIPT	HP:0000348	High forehead	2/2	OMIM:615789
9419	CRIPT	HP:0000311	Round face	2/7	OMIM:615777
9419	CRIPT	HP:0002970	Genu varum	-	OMIM:615777
9419	CRIPT	HP:0000308	Microretrognathia	-	OMIM:615789
9419	CRIPT	HP:0000303	Mandibular prognathia	-	OMIM:131300
9419	CRIPT	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9419	CRIPT	HP:0005280	Depressed nasal bridge	2/2	OMIM:615789
9419	CRIPT	HP:0000463	Anteverted nares	2/2	OMIM:615789
9419	CRIPT	HP:0000470	Short neck	1/7	OMIM:615777
9419	CRIPT	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9419	CRIPT	HP:0001763	Pes planus	1/7	OMIM:615777
9419	CRIPT	HP:0001762	Talipes equinovarus	2/2	OMIM:615789
9419	CRIPT	HP:0001840	Metatarsus adductus	-	OMIM:615777
9419	CRIPT	HP:0000520	Proptosis	2/4	OMIM:131300
9419	CRIPT	HP:0000520	Proptosis	7/7	OMIM:615777
9419	CRIPT	HP:0000520	Proptosis	2/2	OMIM:615789
9419	CRIPT	HP:0000506	Telecanthus	2/2	OMIM:615789
9419	CRIPT	HP:0000577	Exotropia	-	OMIM:615789
9419	CRIPT	HP:0000592	Blue sclerae	2/7	OMIM:615777
9419	CRIPT	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9419	CRIPT	HP:0012514	Lower limb pain	4/4	OMIM:131300
9420	CYP7B1	HP:0002495	Impaired vibratory sensation	HP:0040281	ORPHA:100986
9420	CYP7B1	HP:0007210	Lower limb amyotrophy	HP:0040282	ORPHA:100986
9420	CYP7B1	HP:0007210	Lower limb amyotrophy	6/16	OMIM:270800
9420	CYP7B1	HP:0002406	Limb dysmetria	4/16	OMIM:270800
9420	CYP7B1	HP:0001271	Polyneuropathy	HP:0040284	ORPHA:100986
9420	CYP7B1	HP:0001260	Dysarthria	HP:0040284	ORPHA:100986
9420	CYP7B1	HP:0001260	Dysarthria	-	OMIM:270800
9420	CYP7B1	HP:0001258	Spastic paraplegia	HP:0040281	ORPHA:100986
9420	CYP7B1	HP:0001258	Spastic paraplegia	-	OMIM:270800
9420	CYP7B1	HP:0002573	Hematochezia	1/1	OMIM:613812
9420	CYP7B1	HP:0002570	Steatorrhea	-	OMIM:613812
9420	CYP7B1	HP:0007340	Lower limb muscle weakness	HP:0040281	ORPHA:100986
9420	CYP7B1	HP:0007340	Lower limb muscle weakness	14/16	OMIM:270800
9420	CYP7B1	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:100986
9420	CYP7B1	HP:0001396	Cholestasis	HP:0040282	ORPHA:79302
9420	CYP7B1	HP:0001399	Hepatic failure	HP:0040282	ORPHA:79302
9420	CYP7B1	HP:0001399	Hepatic failure	1/1	OMIM:613812
9420	CYP7B1	HP:0001394	Cirrhosis	HP:0040282	ORPHA:79302
9420	CYP7B1	HP:0001394	Cirrhosis	1/1	OMIM:613812
9420	CYP7B1	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:100986
9420	CYP7B1	HP:0000020	Urinary incontinence	10/16	OMIM:270800
9420	CYP7B1	HP:0001347	Hyperreflexia	16/16	OMIM:270800
9420	CYP7B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:270800
9420	CYP7B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613812
9420	CYP7B1	HP:0002650	Scoliosis	HP:0040284	ORPHA:100986
9420	CYP7B1	HP:0002650	Scoliosis	2/16	OMIM:270800
9420	CYP7B1	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:100986
9420	CYP7B1	HP:0001317	Abnormal cerebellum morphology	HP:0040284	OMIM:270800
9420	CYP7B1	HP:0002630	Fat malabsorption	HP:0040282	ORPHA:79302
9420	CYP7B1	HP:0012115	Hepatitis	-	OMIM:613812
9420	CYP7B1	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:79302
9420	CYP7B1	HP:0001408	Bile duct proliferation	1/1	OMIM:613812
9420	CYP7B1	HP:0001408	Bile duct proliferation	HP:0040282	ORPHA:79302
9420	CYP7B1	HP:0001406	Intrahepatic cholestasis	-	OMIM:613812
9420	CYP7B1	HP:0002014	Diarrhea	-	OMIM:613812
9420	CYP7B1	HP:0002015	Dysphagia	HP:0040284	ORPHA:100986
9420	CYP7B1	HP:0100543	Cognitive impairment	HP:0040283	OMIM:270800
9420	CYP7B1	HP:0002064	Spastic gait	16/16	OMIM:270800
9420	CYP7B1	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:100986
9420	CYP7B1	HP:0002061	Lower limb spasticity	16/16	OMIM:270800
9420	CYP7B1	HP:0002078	Truncal ataxia	HP:0040283	ORPHA:100986
9420	CYP7B1	HP:0002070	Limb ataxia	HP:0040283	ORPHA:100986
9420	CYP7B1	HP:0100508	Abnormality of vitamin metabolism	HP:0040282	ORPHA:79302
9420	CYP7B1	HP:0008151	Prolonged prothrombin time	1/1	OMIM:613812
9420	CYP7B1	HP:0003487	Babinski sign	HP:0040281	ORPHA:100986
9420	CYP7B1	HP:0003487	Babinski sign	15/16	OMIM:270800
9420	CYP7B1	HP:0003484	Upper limb muscle weakness	HP:0040284	ORPHA:100986
9420	CYP7B1	HP:0003484	Upper limb muscle weakness	4/16	OMIM:270800
9420	CYP7B1	HP:0002166	Impaired vibration sensation in the lower limbs	15/16	OMIM:270800
9420	CYP7B1	HP:0002174	Postural tremor	1/16	OMIM:270800
9420	CYP7B1	HP:0003596	Middle age onset	1/16	OMIM:270800
9420	CYP7B1	HP:0002240	Hepatomegaly	1/1	OMIM:613812
9420	CYP7B1	HP:0011985	Acholic stools	1/1	OMIM:613812
9420	CYP7B1	HP:0003676	Progressive	-	OMIM:270800
9420	CYP7B1	HP:0003623	Neonatal onset	1/1	OMIM:613812
9420	CYP7B1	HP:0003621	Juvenile onset	6/16	OMIM:270800
9420	CYP7B1	HP:0006858	Impaired distal proprioception	-	OMIM:270800
9420	CYP7B1	HP:0006827	Atrophy of the spinal cord	HP:0040283	ORPHA:100986
9420	CYP7B1	HP:0000639	Nystagmus	HP:0040284	ORPHA:100986
9420	CYP7B1	HP:0000639	Nystagmus	HP:0040283	OMIM:270800
9420	CYP7B1	HP:0000648	Optic atrophy	-	OMIM:270800
9420	CYP7B1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:613812
9420	CYP7B1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	HP:0040282	ORPHA:79302
9420	CYP7B1	HP:0006986	Upper limb spasticity	HP:0040284	ORPHA:100986
9420	CYP7B1	HP:0006986	Upper limb spasticity	2/16	OMIM:270800
9420	CYP7B1	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:613812
9420	CYP7B1	HP:0031964	Elevated circulating alanine aminotransferase concentration	HP:0040282	ORPHA:79302
9420	CYP7B1	HP:0011463	Childhood onset	3/16	OMIM:270800
9420	CYP7B1	HP:0011462	Young adult onset	6/16	OMIM:270800
9420	CYP7B1	HP:0011448	Ankle clonus	HP:0040282	ORPHA:100986
9420	CYP7B1	HP:0009129	Upper limb amyotrophy	2/16	OMIM:270800
9420	CYP7B1	HP:0009129	Upper limb amyotrophy	HP:0040284	ORPHA:100986
9420	CYP7B1	HP:0003107	Abnormal circulating cholesterol concentration	0/9	OMIM:270800
9420	CYP7B1	HP:0034294	Ductal bile plugs	1/1	OMIM:613812
9420	CYP7B1	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:79302
9420	CYP7B1	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:613812
9420	CYP7B1	HP:0012852	Hepatic bridging fibrosis	1/1	OMIM:613812
9420	CYP7B1	HP:0030890	Hyperintensity of cerebral white matter on MRI	3/6	OMIM:270800
9420	CYP7B1	HP:0000952	Jaundice	HP:0040282	ORPHA:79302
9420	CYP7B1	HP:0000952	Jaundice	1/1	OMIM:613812
9420	CYP7B1	HP:0001508	Failure to thrive	1/1	OMIM:613812
9420	CYP7B1	HP:0002904	Hyperbilirubinemia	1/1	OMIM:613812
9420	CYP7B1	HP:0002904	Hyperbilirubinemia	HP:0040282	ORPHA:79302
9420	CYP7B1	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:100986
9420	CYP7B1	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:270800
9420	CYP7B1	HP:0001744	Splenomegaly	1/1	OMIM:613812
9420	CYP7B1	HP:0001761	Pes cavus	HP:0040282	ORPHA:100986
9420	CYP7B1	HP:0001761	Pes cavus	7/16	OMIM:270800
9420	CYP7B1	HP:0000518	Cataract	HP:0040284	ORPHA:100986
9420	CYP7B1	HP:0000518	Cataract	HP:0040283	OMIM:270800
9421	HAND1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
9421	HAND1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
9421	HAND1	HP:0004467	Preauricular pit	-	OMIM:187500
9421	HAND1	HP:0000337	Broad forehead	-	OMIM:187500
9421	HAND1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
9421	HAND1	HP:0000520	Proptosis	-	OMIM:187500
9423	NTN1	HP:0002492	Abnormal corticospinal tract morphology	HP:0040282	ORPHA:238722
9423	NTN1	HP:0025101	Dysgenesis of the hippocampus	HP:0040283	ORPHA:238722
9423	NTN1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:238722
9423	NTN1	HP:0001274	Agenesis of corpus callosum	HP:0040284	OMIM:157600
9423	NTN1	HP:0001256	Intellectual disability, mild	HP:0040284	OMIM:157600
9423	NTN1	HP:0001256	Intellectual disability, mild	HP:0040284	ORPHA:238722
9423	NTN1	HP:0003829	Typified by incomplete penetrance	-	OMIM:157600
9423	NTN1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:238722
9423	NTN1	HP:0001328	Specific learning disability	HP:0040283	ORPHA:238722
9423	NTN1	HP:0001335	Bimanual synkinesia	HP:0040282	ORPHA:238722
9423	NTN1	HP:0001335	Bimanual synkinesia	-	OMIM:157600
9423	NTN1	HP:0001335	Bimanual synkinesia	-	OMIM:618264
9423	NTN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618264
9423	NTN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:157600
9423	NTN1	HP:0003326	Myalgia	HP:0040283	ORPHA:238722
9423	NTN1	HP:0003388	Easy fatigability	HP:0040282	ORPHA:238722
9423	NTN1	HP:0003593	Infantile onset	-	OMIM:157600
9423	NTN1	HP:0007010	Poor fine motor coordination	HP:0040282	ORPHA:238722
9423	NTN1	HP:0002312	Clumsiness	HP:0040282	ORPHA:238722
9423	NTN1	HP:0100021	Cerebral palsy	HP:0040284	ORPHA:238722
9423	NTN1	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:238722
9423	NTN1	HP:0002949	Fused cervical vertebrae	HP:0040284	ORPHA:238722
9426	CDY2A	HP:0000027	Azoospermia	-	OMIM:415000
9426	CDY2A	HP:0001450	Y-linked inheritance	-	OMIM:415000
9426	CDY2A	HP:0011462	Young adult onset	-	OMIM:415000
9426	CDY2A	HP:0003251	Male infertility	-	OMIM:415000
9427	ECEL1	HP:0001181	Adducted thumb	-	OMIM:615065
9427	ECEL1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9427	ECEL1	HP:0001293	Cranial nerve compression	-	OMIM:131300
9427	ECEL1	HP:0001252	Hypotonia	2/7	OMIM:615777
9427	ECEL1	HP:0001249	Intellectual disability	5/7	OMIM:615777
9427	ECEL1	HP:0001263	Global developmental delay	-	OMIM:615777
9427	ECEL1	HP:0002553	Highly arched eyebrow	-	OMIM:615065
9427	ECEL1	HP:0002515	Waddling gait	54/102	OMIM:131300
9427	ECEL1	HP:0000059	Hypoplastic labia majora	HP:0040283	OMIM:615065
9427	ECEL1	HP:0001374	Congenital hip dislocation	9/9	OMIM:615065
9427	ECEL1	HP:0001382	Joint hypermobility	-	OMIM:615777
9427	ECEL1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9427	ECEL1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9427	ECEL1	HP:0006201	Hypermobility of distal interphalangeal joints	4/8	OMIM:615065
9427	ECEL1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9427	ECEL1	HP:0001324	Muscle weakness	40/96	OMIM:131300
9427	ECEL1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9427	ECEL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615065
9427	ECEL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9427	ECEL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9427	ECEL1	HP:0002650	Scoliosis	7/10	OMIM:615065
9427	ECEL1	HP:0002650	Scoliosis	12/14	OMIM:131300
9427	ECEL1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9427	ECEL1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9427	ECEL1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9427	ECEL1	HP:0000194	Open mouth	5/10	OMIM:615065
9427	ECEL1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9427	ECEL1	HP:0000160	Narrow mouth	3/10	OMIM:615065
9427	ECEL1	HP:0000175	Cleft palate	HP:0040283	OMIM:615065
9427	ECEL1	HP:0000175	Cleft palate	2/7	OMIM:615777
9427	ECEL1	HP:0003307	Hyperlordosis	9/9	OMIM:615065
9427	ECEL1	HP:0003388	Easy fatigability	36/76	OMIM:131300
9427	ECEL1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9427	ECEL1	HP:0003577	Congenital onset	10/10	OMIM:615065
9427	ECEL1	HP:0003510	Severe short stature	7/7	OMIM:615777
9427	ECEL1	HP:0002315	Headache	-	OMIM:131300
9427	ECEL1	HP:0004976	Knee dislocation	6/7	OMIM:615777
9427	ECEL1	HP:0009803	Short phalanx of finger	-	OMIM:615777
9427	ECEL1	HP:0009763	Limb pain	63/92	OMIM:131300
9427	ECEL1	HP:0003621	Juvenile onset	-	OMIM:131300
9427	ECEL1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9427	ECEL1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9427	ECEL1	HP:6001056	Out-toeing	-	OMIM:131300
9427	ECEL1	HP:0000651	Diplopia	-	OMIM:131300
9427	ECEL1	HP:0001956	Truncal obesity	2/7	OMIM:615777
9427	ECEL1	HP:0001903	Anemia	HP:0040283	OMIM:131300
9427	ECEL1	HP:0010049	Short metacarpal	-	OMIM:615777
9427	ECEL1	HP:0000678	Dental crowding	-	OMIM:615777
9427	ECEL1	HP:0000670	Carious teeth	-	OMIM:131300
9427	ECEL1	HP:0011304	Broad thumb	2/7	OMIM:615777
9427	ECEL1	HP:0000668	Hypodontia	-	OMIM:615777
9427	ECEL1	HP:0000664	Synophrys	-	OMIM:615777
9427	ECEL1	HP:0004322	Short stature	-	OMIM:615065
9427	ECEL1	HP:0004396	Poor appetite	-	OMIM:131300
9427	ECEL1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9427	ECEL1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9427	ECEL1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9427	ECEL1	HP:0003026	Short long bone	7/7	OMIM:615777
9427	ECEL1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9427	ECEL1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9427	ECEL1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9427	ECEL1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9427	ECEL1	HP:0000750	Delayed speech and language development	-	OMIM:615777
9427	ECEL1	HP:0011461	Fetal onset	7/7	OMIM:615777
9427	ECEL1	HP:0000774	Narrow chest	2/7	OMIM:615777
9427	ECEL1	HP:0003199	Decreased muscle mass	10/10	OMIM:615065
9427	ECEL1	HP:0000926	Platyspondyly	1/7	OMIM:615777
9427	ECEL1	HP:0003180	Flat acetabular roof	-	OMIM:615777
9427	ECEL1	HP:0004482	Relative macrocephaly	-	OMIM:615777
9427	ECEL1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9427	ECEL1	HP:0000823	Delayed puberty	-	OMIM:131300
9427	ECEL1	HP:0000894	Short clavicles	-	OMIM:615777
9427	ECEL1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9427	ECEL1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9427	ECEL1	HP:0000286	Epicanthus	1/7	OMIM:615777
9427	ECEL1	HP:0000280	Coarse facial features	2/7	OMIM:615777
9427	ECEL1	HP:0006467	Limited shoulder movement	2/8	OMIM:615065
9427	ECEL1	HP:0002827	Hip dislocation	3/7	OMIM:615777
9427	ECEL1	HP:0006389	Limited knee flexion	10/10	OMIM:615065
9427	ECEL1	HP:0000252	Microcephaly	-	OMIM:615777
9427	ECEL1	HP:0000221	Furrowed tongue	-	OMIM:615065
9427	ECEL1	HP:0030001	Lagophthalmos	1/10	OMIM:615065
9427	ECEL1	HP:0002857	Genu valgum	-	OMIM:131300
9427	ECEL1	HP:0001533	Slender build	-	OMIM:131300
9427	ECEL1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9427	ECEL1	HP:0007807	Optic nerve compression	-	OMIM:131300
9427	ECEL1	HP:0012385	Camptodactyly	-	OMIM:615065
9427	ECEL1	HP:0012368	Flat face	7/7	OMIM:615777
9427	ECEL1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9427	ECEL1	HP:0000365	Hearing impairment	10/67	OMIM:131300
9427	ECEL1	HP:0000343	Long philtrum	1/7	OMIM:615777
9427	ECEL1	HP:0011001	Increased bone mineral density	-	OMIM:131300
9427	ECEL1	HP:0002996	Limited elbow movement	3/7	OMIM:615065
9427	ECEL1	HP:0000347	Micrognathia	-	OMIM:615065
9427	ECEL1	HP:0000311	Round face	2/7	OMIM:615777
9427	ECEL1	HP:0000311	Round face	-	OMIM:615065
9427	ECEL1	HP:0002987	Elbow flexion contracture	-	OMIM:615065
9427	ECEL1	HP:0002970	Genu varum	-	OMIM:615777
9427	ECEL1	HP:0000303	Mandibular prognathia	-	OMIM:131300
9427	ECEL1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9427	ECEL1	HP:0012473	Tongue atrophy	7/7	OMIM:615065
9427	ECEL1	HP:0000463	Anteverted nares	-	OMIM:615065
9427	ECEL1	HP:0000470	Short neck	10/10	OMIM:615065
9427	ECEL1	HP:0000470	Short neck	1/7	OMIM:615777
9427	ECEL1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9427	ECEL1	HP:0001763	Pes planus	1/7	OMIM:615777
9427	ECEL1	HP:0000414	Bulbous nose	-	OMIM:615065
9427	ECEL1	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:615065
9427	ECEL1	HP:0001848	Calcaneovalgus deformity	HP:0040283	OMIM:615065
9427	ECEL1	HP:0001840	Metatarsus adductus	-	OMIM:615777
9427	ECEL1	HP:0000520	Proptosis	2/4	OMIM:131300
9427	ECEL1	HP:0000520	Proptosis	7/7	OMIM:615777
9427	ECEL1	HP:0000508	Ptosis	7/10	OMIM:615065
9427	ECEL1	HP:0000592	Blue sclerae	2/7	OMIM:615777
9427	ECEL1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9427	ECEL1	HP:0012514	Lower limb pain	4/4	OMIM:131300
9439	MED23	HP:0002474	Expressive language delay	2/2	OMIM:614249
9439	MED23	HP:0001288	Gait disturbance	1/1	OMIM:614249
9439	MED23	HP:0001249	Intellectual disability	5/5	OMIM:614249
9439	MED23	HP:0001266	Choreoathetosis	1/2	OMIM:614249
9439	MED23	HP:0001263	Global developmental delay	3/3	OMIM:614249
9439	MED23	HP:0001257	Spasticity	3/3	OMIM:614249
9439	MED23	HP:0001332	Dystonia	1/2	OMIM:614249
9439	MED23	HP:0033725	Thin corpus callosum	1/2	OMIM:614249
9439	MED23	HP:0001344	Absent speech	2/2	OMIM:614249
9439	MED23	HP:0000007	Autosomal recessive inheritance	20/20	OMIM:614249
9439	MED23	HP:0008936	Axial hypotonia	2/2	OMIM:614249
9439	MED23	HP:0012110	Hypoplasia of the pons	2/2	OMIM:614249
9439	MED23	HP:0002187	Intellectual disability, profound	3/3	OMIM:614249
9439	MED23	HP:0003593	Infantile onset	2/2	OMIM:614249
9439	MED23	HP:0003577	Congenital onset	2/2	OMIM:614249
9439	MED23	HP:0007030	Nonprogressive encephalopathy	2/2	OMIM:614249
9439	MED23	HP:0011968	Feeding difficulties	2/2	OMIM:614249
9439	MED23	HP:0002360	Sleep abnormality	2/2	OMIM:614249
9439	MED23	HP:0002353	EEG abnormality	2/2	OMIM:614249
9439	MED23	HP:0100021	Cerebral palsy	1/3	OMIM:614249
9439	MED23	HP:0000737	Irritability	2/2	OMIM:614249
9439	MED23	HP:0000750	Delayed speech and language development	1/1	OMIM:614249
9439	MED23	HP:0011463	Childhood onset	1/1	OMIM:614249
9439	MED23	HP:0000252	Microcephaly	1/6	OMIM:614249
9439	MED23	HP:0001629	Ventricular septal defect	1/2	OMIM:614249
9439	MED23	HP:0001631	Atrial septal defect	1/2	OMIM:614249
9440	MED17	HP:0001276	Hypertonia	5/5	OMIM:613668
9440	MED17	HP:0001250	Seizure	5/5	OMIM:613668
9440	MED17	HP:0001263	Global developmental delay	5/5	OMIM:613668
9440	MED17	HP:0001257	Spasticity	5/5	OMIM:613668
9440	MED17	HP:0002521	Hypsarrhythmia	5/5	OMIM:613668
9440	MED17	HP:0002506	Diffuse cerebral atrophy	5/5	OMIM:613668
9440	MED17	HP:0001347	Hyperreflexia	5/5	OMIM:613668
9440	MED17	HP:0000007	Autosomal recessive inheritance	-	OMIM:613668
9440	MED17	HP:0002015	Dysphagia	5/5	OMIM:613668
9440	MED17	HP:0002188	Delayed CNS myelination	5/5	OMIM:613668
9440	MED17	HP:0002169	Clonus	5/5	OMIM:613668
9440	MED17	HP:0003593	Infantile onset	5/5	OMIM:613668
9440	MED17	HP:0011968	Feeding difficulties	5/5	OMIM:613668
9440	MED17	HP:0002365	Hypoplasia of the brainstem	5/5	OMIM:613668
9440	MED17	HP:0003676	Progressive	-	OMIM:613668
9440	MED17	HP:0012695	Decreased thalamic volume	5/5	OMIM:613668
9440	MED17	HP:0001508	Failure to thrive	5/5	OMIM:613668
9440	MED17	HP:0005484	Secondary microcephaly	5/5	OMIM:613668
9442	MED27	HP:0009879	Simplified gyral pattern	1/14	OMIM:619286
9442	MED27	HP:0001272	Cerebellar atrophy	12/14	OMIM:619286
9442	MED27	HP:0001270	Motor delay	13/15	OMIM:619286
9442	MED27	HP:0001250	Seizure	9/15	OMIM:619286
9442	MED27	HP:0001252	Hypotonia	14/15	OMIM:619286
9442	MED27	HP:0001249	Intellectual disability	14/14	OMIM:619286
9442	MED27	HP:0001263	Global developmental delay	14/14	OMIM:619286
9442	MED27	HP:0001257	Spasticity	13/15	OMIM:619286
9442	MED27	HP:0002553	Highly arched eyebrow	1/14	OMIM:619286
9442	MED27	HP:0001332	Dystonia	13/15	OMIM:619286
9442	MED27	HP:0033725	Thin corpus callosum	2/14	OMIM:619286
9442	MED27	HP:0000012	Urinary urgency	2/14	OMIM:619286
9442	MED27	HP:0000007	Autosomal recessive inheritance	-	OMIM:619286
9442	MED27	HP:0002007	Frontal bossing	1/14	OMIM:619286
9442	MED27	HP:0002059	Cerebral atrophy	4/14	OMIM:619286
9442	MED27	HP:0003429	CNS hypomyelination	1/14	OMIM:619286
9442	MED27	HP:0010535	Sleep apnea	2/14	OMIM:619286
9442	MED27	HP:0002263	Exaggerated cupid's bow	1/14	OMIM:619286
9442	MED27	HP:0002236	Frontal upsweep of hair	2/14	OMIM:619286
9442	MED27	HP:0011968	Feeding difficulties	8/14	OMIM:619286
9442	MED27	HP:0002376	Developmental regression	5/15	OMIM:619286
9442	MED27	HP:0002307	Drooling	7/14	OMIM:619286
9442	MED27	HP:0000687	Widely spaced teeth	1/14	OMIM:619286
9442	MED27	HP:0000664	Synophrys	1/14	OMIM:619286
9442	MED27	HP:0000750	Delayed speech and language development	13/15	OMIM:619286
9442	MED27	HP:0000252	Microcephaly	4/14	OMIM:619286
9442	MED27	HP:0000369	Low-set ears	1/14	OMIM:619286
9442	MED27	HP:0000316	Hypertelorism	1/14	OMIM:619286
9442	MED27	HP:0005280	Depressed nasal bridge	1/14	OMIM:619286
9442	MED27	HP:0000463	Anteverted nares	2/14	OMIM:619286
9442	MED27	HP:0000518	Cataract	10/15	OMIM:619286
9442	MED27	HP:0000527	Long eyelashes	3/14	OMIM:619286
9442	MED27	HP:0000592	Blue sclerae	1/14	OMIM:619286
9445	ITM2B	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
9445	ITM2B	HP:0001115	Posterior polar cataract	-	OMIM:117300
9445	ITM2B	HP:0001276	Hypertonia	-	OMIM:176500
9445	ITM2B	HP:0001251	Ataxia	-	OMIM:117300
9445	ITM2B	HP:0001257	Spasticity	-	OMIM:117300
9445	ITM2B	HP:0001257	Spasticity	-	OMIM:176500
9445	ITM2B	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
9445	ITM2B	HP:0001337	Tremor	-	OMIM:176500
9445	ITM2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
9445	ITM2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:616079
9445	ITM2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:117300
9445	ITM2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:176500
9445	ITM2B	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
9445	ITM2B	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
9445	ITM2B	HP:0007663	Reduced visual acuity	9/9	OMIM:616079
9445	ITM2B	HP:0002080	Intention tremor	-	OMIM:117300
9445	ITM2B	HP:0002063	Rigidity	-	OMIM:176500
9445	ITM2B	HP:0002185	Neurofibrillary tangles	-	OMIM:117300
9445	ITM2B	HP:0003596	Middle age onset	3/9	OMIM:616079
9445	ITM2B	HP:0011970	Cerebral amyloid angiopathy	-	OMIM:176500
9445	ITM2B	HP:0011970	Cerebral amyloid angiopathy	-	OMIM:117300
9445	ITM2B	HP:0002344	Progressive neurologic deterioration	-	OMIM:176500
9445	ITM2B	HP:0003621	Juvenile onset	8/19	OMIM:180100
9445	ITM2B	HP:0000613	Photophobia	9/9	OMIM:616079
9445	ITM2B	HP:0000603	Central scotoma	8/9	OMIM:616079
9445	ITM2B	HP:0000662	Nyctalopia	1/9	OMIM:616079
9445	ITM2B	HP:0000662	Nyctalopia	26/28	OMIM:180100
9445	ITM2B	HP:0000726	Dementia	-	OMIM:117300
9445	ITM2B	HP:0000726	Dementia	-	OMIM:176500
9445	ITM2B	HP:0000709	Psychosis	-	OMIM:117300
9445	ITM2B	HP:0011463	Childhood onset	3/19	OMIM:180100
9445	ITM2B	HP:0011462	Young adult onset	8/19	OMIM:180100
9445	ITM2B	HP:0011462	Young adult onset	6/9	OMIM:616079
9445	ITM2B	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
9445	ITM2B	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
9445	ITM2B	HP:0000365	Hearing impairment	-	OMIM:117300
9445	ITM2B	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
9445	ITM2B	HP:0000575	Scotoma	5/18	OMIM:180100
9445	ITM2B	HP:0000556	Retinal dystrophy	-	OMIM:616079
9445	ITM2B	HP:0000543	Optic disc pallor	9/9	OMIM:616079
9445	ITM2B	HP:0000543	Optic disc pallor	1/1	OMIM:180100
9445	ITM2B	HP:0000545	Myopia	-	OMIM:180100
9451	EIF2AK3	HP:0002480	Hepatic encephalopathy	HP:0040284	ORPHA:1667
9451	EIF2AK3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9451	EIF2AK3	HP:0001293	Cranial nerve compression	-	OMIM:131300
9451	EIF2AK3	HP:0001276	Hypertonia	-	OMIM:226980
9451	EIF2AK3	HP:0100827	Increased total lymphocyte count	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0001288	Gait disturbance	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0001250	Seizure	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0001252	Hypotonia	2/7	OMIM:615777
9451	EIF2AK3	HP:0001249	Intellectual disability	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0001249	Intellectual disability	5/7	OMIM:615777
9451	EIF2AK3	HP:0001263	Global developmental delay	-	OMIM:226980
9451	EIF2AK3	HP:0001263	Global developmental delay	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0001263	Global developmental delay	-	OMIM:615777
9451	EIF2AK3	HP:0006110	Shortening of all middle phalanges of the fingers	-	OMIM:226980
9451	EIF2AK3	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0002515	Waddling gait	54/102	OMIM:131300
9451	EIF2AK3	HP:0000083	Renal insufficiency	-	OMIM:226980
9451	EIF2AK3	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0001392	Abnormality of the liver	HP:0040281	ORPHA:1667
9451	EIF2AK3	HP:0001382	Joint hypermobility	-	OMIM:615777
9451	EIF2AK3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9451	EIF2AK3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9451	EIF2AK3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9451	EIF2AK3	HP:0002656	Epiphyseal dysplasia	3/3	OMIM:226980
9451	EIF2AK3	HP:0001324	Muscle weakness	40/96	OMIM:131300
9451	EIF2AK3	HP:0001324	Muscle weakness	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0002654	Multiple epiphyseal dysplasia	-	OMIM:226980
9451	EIF2AK3	HP:0002654	Multiple epiphyseal dysplasia	HP:0040282	ORPHA:1667
9451	EIF2AK3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9451	EIF2AK3	HP:0002673	Coxa valga	-	OMIM:226980
9451	EIF2AK3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9451	EIF2AK3	HP:0000007	Autosomal recessive inheritance	-	OMIM:226980
9451	EIF2AK3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9451	EIF2AK3	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:1667
9451	EIF2AK3	HP:0002650	Scoliosis	12/14	OMIM:131300
9451	EIF2AK3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9451	EIF2AK3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9451	EIF2AK3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9451	EIF2AK3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9451	EIF2AK3	HP:0001498	Carpal bone hypoplasia	-	OMIM:226980
9451	EIF2AK3	HP:0000175	Cleft palate	2/7	OMIM:615777
9451	EIF2AK3	HP:0006274	Reduced pancreatic beta cells	-	OMIM:226980
9451	EIF2AK3	HP:0002719	Recurrent infections	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0003311	Hypoplasia of the odontoid process	-	OMIM:226980
9451	EIF2AK3	HP:0003307	Hyperlordosis	-	OMIM:226980
9451	EIF2AK3	HP:0003301	Irregular vertebral endplates	-	OMIM:226980
9451	EIF2AK3	HP:0003388	Easy fatigability	36/76	OMIM:131300
9451	EIF2AK3	HP:0008134	Irregular tarsal ossification	-	OMIM:226980
9451	EIF2AK3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9451	EIF2AK3	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0010585	Small epiphyses	-	OMIM:226980
9451	EIF2AK3	HP:0003593	Infantile onset	5/5	OMIM:226980
9451	EIF2AK3	HP:0002240	Hepatomegaly	-	OMIM:226980
9451	EIF2AK3	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0003510	Severe short stature	7/7	OMIM:615777
9451	EIF2AK3	HP:0002315	Headache	-	OMIM:131300
9451	EIF2AK3	HP:0004976	Knee dislocation	6/7	OMIM:615777
9451	EIF2AK3	HP:0100651	Type I diabetes mellitus	-	OMIM:226980
9451	EIF2AK3	HP:0009803	Short phalanx of finger	-	OMIM:615777
9451	EIF2AK3	HP:0009763	Limb pain	63/92	OMIM:131300
9451	EIF2AK3	HP:0003621	Juvenile onset	-	OMIM:131300
9451	EIF2AK3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9451	EIF2AK3	HP:0004236	Irregular carpal bones	-	OMIM:226980
9451	EIF2AK3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9451	EIF2AK3	HP:0012622	Chronic kidney disease	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:6001056	Out-toeing	-	OMIM:131300
9451	EIF2AK3	HP:0000651	Diplopia	-	OMIM:131300
9451	EIF2AK3	HP:0001944	Dehydration	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0001945	Fever	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0001956	Truncal obesity	2/7	OMIM:615777
9451	EIF2AK3	HP:0001903	Anemia	HP:0040283	OMIM:131300
9451	EIF2AK3	HP:0010049	Short metacarpal	-	OMIM:615777
9451	EIF2AK3	HP:0000678	Dental crowding	-	OMIM:615777
9451	EIF2AK3	HP:0001993	Ketoacidosis	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0001987	Hyperammonemia	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0000670	Carious teeth	-	OMIM:131300
9451	EIF2AK3	HP:0011304	Broad thumb	2/7	OMIM:615777
9451	EIF2AK3	HP:0000668	Hypodontia	-	OMIM:615777
9451	EIF2AK3	HP:0000664	Synophrys	-	OMIM:615777
9451	EIF2AK3	HP:0004325	Decreased body weight	HP:0040282	ORPHA:1667
9451	EIF2AK3	HP:0004322	Short stature	-	OMIM:226980
9451	EIF2AK3	HP:0004322	Short stature	HP:0040281	ORPHA:1667
9451	EIF2AK3	HP:0003073	Hypoalbuminemia	HP:0040282	ORPHA:1667
9451	EIF2AK3	HP:0003071	Flattened epiphysis	-	OMIM:226980
9451	EIF2AK3	HP:0004396	Poor appetite	-	OMIM:131300
9451	EIF2AK3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9451	EIF2AK3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9451	EIF2AK3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9451	EIF2AK3	HP:0003026	Short long bone	7/7	OMIM:615777
9451	EIF2AK3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9451	EIF2AK3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9451	EIF2AK3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9451	EIF2AK3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9451	EIF2AK3	HP:0000750	Delayed speech and language development	-	OMIM:615777
9451	EIF2AK3	HP:0010168	Ivory epiphyses of the toes	-	OMIM:226980
9451	EIF2AK3	HP:0011461	Fetal onset	7/7	OMIM:615777
9451	EIF2AK3	HP:0000774	Narrow chest	2/7	OMIM:615777
9451	EIF2AK3	HP:0000926	Platyspondyly	1/7	OMIM:615777
9451	EIF2AK3	HP:0000926	Platyspondyly	-	OMIM:226980
9451	EIF2AK3	HP:0003180	Flat acetabular roof	-	OMIM:615777
9451	EIF2AK3	HP:0004482	Relative macrocephaly	-	OMIM:615777
9451	EIF2AK3	HP:0004467	Preauricular pit	-	OMIM:226980
9451	EIF2AK3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9451	EIF2AK3	HP:0000857	Neonatal insulin-dependent diabetes mellitus	HP:0040281	ORPHA:1667
9451	EIF2AK3	HP:0000831	Insulin-resistant diabetes mellitus	5/5	OMIM:226980
9451	EIF2AK3	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0000823	Delayed puberty	-	OMIM:131300
9451	EIF2AK3	HP:0010234	Ivory epiphyses of the phalanges of the hand	-	OMIM:226980
9451	EIF2AK3	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	-	OMIM:226980
9451	EIF2AK3	HP:0000894	Short clavicles	-	OMIM:615777
9451	EIF2AK3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9451	EIF2AK3	HP:0100255	Metaphyseal dysplasia	HP:0040282	ORPHA:1667
9451	EIF2AK3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9451	EIF2AK3	HP:0000952	Jaundice	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0000939	Osteoporosis	-	OMIM:226980
9451	EIF2AK3	HP:0000286	Epicanthus	1/7	OMIM:615777
9451	EIF2AK3	HP:0000280	Coarse facial features	2/7	OMIM:615777
9451	EIF2AK3	HP:0002827	Hip dislocation	3/7	OMIM:615777
9451	EIF2AK3	HP:0002827	Hip dislocation	-	OMIM:226980
9451	EIF2AK3	HP:0000252	Microcephaly	-	OMIM:226980
9451	EIF2AK3	HP:0000252	Microcephaly	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0000252	Microcephaly	-	OMIM:615777
9451	EIF2AK3	HP:0001552	Barrel-shaped chest	-	OMIM:226980
9451	EIF2AK3	HP:0000218	High palate	-	OMIM:226980
9451	EIF2AK3	HP:0002857	Genu valgum	-	OMIM:131300
9451	EIF2AK3	HP:0002857	Genu valgum	-	OMIM:226980
9451	EIF2AK3	HP:0001541	Ascites	HP:0040284	ORPHA:1667
9451	EIF2AK3	HP:0002868	Narrow iliac wing	-	OMIM:226980
9451	EIF2AK3	HP:0001533	Slender build	-	OMIM:131300
9451	EIF2AK3	HP:0030043	Hip subluxation	-	OMIM:226980
9451	EIF2AK3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9451	EIF2AK3	HP:0001510	Growth delay	HP:0040281	ORPHA:1667
9451	EIF2AK3	HP:0007807	Optic nerve compression	-	OMIM:131300
9451	EIF2AK3	HP:0012368	Flat face	7/7	OMIM:615777
9451	EIF2AK3	HP:0006554	Acute hepatic failure	HP:0040282	ORPHA:1667
9451	EIF2AK3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9451	EIF2AK3	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:1667
9451	EIF2AK3	HP:0002904	Hyperbilirubinemia	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0002902	Hyponatremia	HP:0040284	ORPHA:1667
9451	EIF2AK3	HP:0000365	Hearing impairment	10/67	OMIM:131300
9451	EIF2AK3	HP:0000343	Long philtrum	1/7	OMIM:615777
9451	EIF2AK3	HP:0011001	Increased bone mineral density	-	OMIM:131300
9451	EIF2AK3	HP:0000316	Hypertelorism	-	OMIM:226980
9451	EIF2AK3	HP:0000311	Round face	2/7	OMIM:615777
9451	EIF2AK3	HP:0002970	Genu varum	-	OMIM:615777
9451	EIF2AK3	HP:0001631	Atrial septal defect	HP:0040284	ORPHA:1667
9451	EIF2AK3	HP:0000303	Mandibular prognathia	-	OMIM:131300
9451	EIF2AK3	HP:0001738	Exocrine pancreatic insufficiency	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:1667
9451	EIF2AK3	HP:0005280	Depressed nasal bridge	-	OMIM:226980
9451	EIF2AK3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9451	EIF2AK3	HP:0000486	Strabismus	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0000470	Short neck	1/7	OMIM:615777
9451	EIF2AK3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9451	EIF2AK3	HP:0001763	Pes planus	1/7	OMIM:615777
9451	EIF2AK3	HP:0001840	Metatarsus adductus	-	OMIM:615777
9451	EIF2AK3	HP:0000520	Proptosis	2/4	OMIM:131300
9451	EIF2AK3	HP:0000520	Proptosis	7/7	OMIM:615777
9451	EIF2AK3	HP:0000582	Upslanted palpebral fissure	-	OMIM:226980
9451	EIF2AK3	HP:0000592	Blue sclerae	2/7	OMIM:615777
9451	EIF2AK3	HP:0001891	Iron deficiency anemia	HP:0040283	ORPHA:1667
9451	EIF2AK3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9451	EIF2AK3	HP:0012514	Lower limb pain	4/4	OMIM:131300
9451	EIF2AK3	HP:0001875	Decreased total neutrophil count	HP:0040282	ORPHA:1667
9453	GGPS1	HP:0001270	Motor delay	1/1	OMIM:619518
9453	GGPS1	HP:0033686	Mitochondrial hypertrophy	1/9	OMIM:619518
9453	GGPS1	HP:0002505	Loss of ambulation	5/11	OMIM:619518
9453	GGPS1	HP:0032341	Reduced forced vital capacity	2/4	OMIM:619518
9453	GGPS1	HP:0003805	Rimmed vacuoles	9/9	OMIM:619518
9453	GGPS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619518
9453	GGPS1	HP:0002650	Scoliosis	4/10	OMIM:619518
9453	GGPS1	HP:0002033	Poor suck	-	OMIM:619518
9453	GGPS1	HP:0003323	Progressive muscle weakness	11/11	OMIM:619518
9453	GGPS1	HP:0002093	Respiratory insufficiency	8/10	OMIM:619518
9453	GGPS1	HP:0008222	Female infertility	3/3	OMIM:619518
9453	GGPS1	HP:0008209	Premature ovarian insufficiency	3/3	OMIM:619518
9453	GGPS1	HP:0003577	Congenital onset	11/11	OMIM:619518
9453	GGPS1	HP:0003687	Centrally nucleated skeletal muscle fibers	9/9	OMIM:619518
9453	GGPS1	HP:0004322	Short stature	8/11	OMIM:619518
9453	GGPS1	HP:0003236	Elevated circulating creatine kinase concentration	9/9	OMIM:619518
9453	GGPS1	HP:0001558	Decreased fetal movement	-	OMIM:619518
9453	GGPS1	HP:0001508	Failure to thrive	7/10	OMIM:619518
9453	GGPS1	HP:0001612	Weak cry	-	OMIM:619518
9453	GGPS1	HP:0000407	Sensorineural hearing impairment	10/11	OMIM:619518
9453	GGPS1	HP:0025717	Skeletal muscle autophagosome accumulation	2/9	OMIM:619518
9455	HOMER2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616707
9455	HOMER2	HP:0000407	Sensorineural hearing impairment	10/10	OMIM:616707
9464	HAND2	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
9464	HAND2	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
9464	HAND2	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
9464	HAND2	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
9464	HAND2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
9464	HAND2	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
9464	HAND2	HP:0003198	Myopathy	HP:0040283	ORPHA:154
9464	HAND2	HP:0004467	Preauricular pit	-	OMIM:187500
9464	HAND2	HP:0000969	Edema	HP:0040282	ORPHA:154
9464	HAND2	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
9464	HAND2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
9464	HAND2	HP:0012378	Fatigue	HP:0040282	ORPHA:154
9464	HAND2	HP:0000337	Broad forehead	-	OMIM:187500
9464	HAND2	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
9464	HAND2	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
9464	HAND2	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
9464	HAND2	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
9464	HAND2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
9464	HAND2	HP:0000520	Proptosis	-	OMIM:187500
9469	CHST3	HP:0001156	Brachydactyly	-	OMIM:143095
9469	CHST3	HP:0001156	Brachydactyly	HP:0040281	ORPHA:263463
9469	CHST3	HP:0008593	Prominent antitragus	HP:0040283	OMIM:245600
9469	CHST3	HP:0009880	Broad distal phalanges of all fingers	-	OMIM:245600
9469	CHST3	HP:0009882	Short distal phalanx of finger	-	OMIM:143095
9469	CHST3	HP:0008551	Microtia	-	OMIM:143095
9469	CHST3	HP:0008551	Microtia	-	OMIM:245600
9469	CHST3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9469	CHST3	HP:0001293	Cranial nerve compression	-	OMIM:131300
9469	CHST3	HP:0001290	Generalized hypotonia	6/7	OMIM:245600
9469	CHST3	HP:0001270	Motor delay	HP:0040282	ORPHA:263463
9469	CHST3	HP:0001270	Motor delay	5/5	OMIM:245600
9469	CHST3	HP:0001256	Intellectual disability, mild	-	OMIM:259770
9469	CHST3	HP:0001252	Hypotonia	-	OMIM:245600
9469	CHST3	HP:0001252	Hypotonia	-	OMIM:259770
9469	CHST3	HP:0001252	Hypotonia	2/7	OMIM:615777
9469	CHST3	HP:0001249	Intellectual disability	0/9	OMIM:143095
9469	CHST3	HP:0001249	Intellectual disability	3/20	OMIM:150250
9469	CHST3	HP:0001249	Intellectual disability	5/7	OMIM:615777
9469	CHST3	HP:0001263	Global developmental delay	1/1	OMIM:612394
9469	CHST3	HP:0001263	Global developmental delay	-	OMIM:615777
9469	CHST3	HP:0100864	Short femoral neck	-	OMIM:143095
9469	CHST3	HP:0006067	Multiple carpal ossification centers	-	OMIM:143095
9469	CHST3	HP:0006067	Multiple carpal ossification centers	-	OMIM:150250
9469	CHST3	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:143095
9469	CHST3	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:263463
9469	CHST3	HP:0003883	Tapered humerus	3/16	OMIM:150250
9469	CHST3	HP:0001222	Spatulate thumbs	-	OMIM:245600
9469	CHST3	HP:0001222	Spatulate thumbs	17/18	OMIM:150250
9469	CHST3	HP:0002515	Waddling gait	HP:0040281	ORPHA:263463
9469	CHST3	HP:0002515	Waddling gait	54/102	OMIM:131300
9469	CHST3	HP:0002515	Waddling gait	-	OMIM:143095
9469	CHST3	HP:0003834	Shoulder dislocation	-	OMIM:143095
9469	CHST3	HP:0003834	Shoulder dislocation	HP:0040283	OMIM:245600
9469	CHST3	HP:0006099	Metacarpophalangeal joint hyperextensibility	HP:0040283	OMIM:245600
9469	CHST3	HP:0001371	Flexion contracture	-	OMIM:143095
9469	CHST3	HP:0001371	Flexion contracture	HP:0040281	ORPHA:263463
9469	CHST3	HP:0001373	Joint dislocation	-	OMIM:143095
9469	CHST3	HP:0001382	Joint hypermobility	-	OMIM:259770
9469	CHST3	HP:0001382	Joint hypermobility	-	OMIM:150250
9469	CHST3	HP:0001382	Joint hypermobility	-	OMIM:615777
9469	CHST3	HP:0001382	Joint hypermobility	10/18	OMIM:245600
9469	CHST3	HP:0000023	Inguinal hernia	HP:0040283	OMIM:245600
9469	CHST3	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
9469	CHST3	HP:0001363	Craniosynostosis	7/10	OMIM:245600
9469	CHST3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9469	CHST3	HP:0000028	Cryptorchidism	-	OMIM:150250
9469	CHST3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9469	CHST3	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
9469	CHST3	HP:0012095	Multiple joint dislocation	20/24	OMIM:245600
9469	CHST3	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
9469	CHST3	HP:0003994	Dislocated wrist	-	OMIM:150250
9469	CHST3	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
9469	CHST3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9469	CHST3	HP:0001324	Muscle weakness	40/96	OMIM:131300
9469	CHST3	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:143095
9469	CHST3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9469	CHST3	HP:0000007	Autosomal recessive inheritance	-	OMIM:245600
9469	CHST3	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
9469	CHST3	HP:0000007	Autosomal recessive inheritance	-	OMIM:143095
9469	CHST3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9469	CHST3	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
9469	CHST3	HP:0000006	Autosomal dominant inheritance	-	OMIM:150250
9469	CHST3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9469	CHST3	HP:0002650	Scoliosis	1/5	OMIM:259770
9469	CHST3	HP:0002650	Scoliosis	1/1	OMIM:612394
9469	CHST3	HP:0002650	Scoliosis	9/9	OMIM:143095
9469	CHST3	HP:0002650	Scoliosis	HP:0040281	ORPHA:263463
9469	CHST3	HP:0002650	Scoliosis	12/14	OMIM:131300
9469	CHST3	HP:0002650	Scoliosis	12/20	OMIM:150250
9469	CHST3	HP:0002650	Scoliosis	-	OMIM:245600
9469	CHST3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9469	CHST3	HP:0002616	Aortic root aneurysm	-	OMIM:245600
9469	CHST3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9469	CHST3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9469	CHST3	HP:0008905	Rhizomelia	HP:0040281	ORPHA:263463
9469	CHST3	HP:0008905	Rhizomelia	-	OMIM:143095
9469	CHST3	HP:0008905	Rhizomelia	HP:0040283	OMIM:245600
9469	CHST3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9469	CHST3	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
9469	CHST3	HP:0000160	Narrow mouth	10/19	OMIM:245600
9469	CHST3	HP:0000175	Cleft palate	3/20	OMIM:150250
9469	CHST3	HP:0000175	Cleft palate	2/7	OMIM:615777
9469	CHST3	HP:0000175	Cleft palate	-	OMIM:245600
9469	CHST3	HP:0005021	Bilateral elbow dislocations	-	OMIM:245600
9469	CHST3	HP:0007598	Bilateral single transverse palmar creases	-	OMIM:143095
9469	CHST3	HP:0002780	Bronchomalacia	-	OMIM:150250
9469	CHST3	HP:0002779	Tracheomalacia	-	OMIM:150250
9469	CHST3	HP:0002777	Tracheal stenosis	-	OMIM:150250
9469	CHST3	HP:0002757	Recurrent fractures	4/5	OMIM:259770
9469	CHST3	HP:0002757	Recurrent fractures	8/17	OMIM:245600
9469	CHST3	HP:0002756	Pathologic fracture	-	OMIM:259770
9469	CHST3	HP:0002756	Pathologic fracture	1/1	OMIM:612394
9469	CHST3	HP:0002751	Kyphoscoliosis	-	OMIM:143095
9469	CHST3	HP:0002751	Kyphoscoliosis	-	OMIM:259770
9469	CHST3	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:263463
9469	CHST3	HP:0002750	Delayed skeletal maturation	-	OMIM:143095
9469	CHST3	HP:0002750	Delayed skeletal maturation	HP:0040283	OMIM:245600
9469	CHST3	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
9469	CHST3	HP:0002007	Frontal bossing	-	OMIM:150250
9469	CHST3	HP:0002007	Frontal bossing	6/16	OMIM:245600
9469	CHST3	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:263463
9469	CHST3	HP:0003304	Spondylolysis	-	OMIM:150250
9469	CHST3	HP:0003301	Irregular vertebral endplates	-	OMIM:143095
9469	CHST3	HP:0011800	Midface retrusion	19/20	OMIM:150250
9469	CHST3	HP:0011800	Midface retrusion	19/19	OMIM:245600
9469	CHST3	HP:0002092	Pulmonary arterial hypertension	-	OMIM:143095
9469	CHST3	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
9469	CHST3	HP:0003388	Easy fatigability	36/76	OMIM:131300
9469	CHST3	HP:0010446	Tricuspid stenosis	-	OMIM:143095
9469	CHST3	HP:0008127	Bipartite calcaneus	-	OMIM:150250
9469	CHST3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9469	CHST3	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
9469	CHST3	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
9469	CHST3	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
9469	CHST3	HP:0003417	Coronal cleft vertebrae	-	OMIM:143095
9469	CHST3	HP:0002194	Delayed gross motor development	-	OMIM:143095
9469	CHST3	HP:0002164	Nail dysplasia	1/1	OMIM:612394
9469	CHST3	HP:0002162	Low posterior hairline	-	OMIM:245600
9469	CHST3	HP:0002176	Spinal cord compression	-	OMIM:150250
9469	CHST3	HP:0100490	Camptodactyly of finger	-	OMIM:143095
9469	CHST3	HP:0010557	Overlapping fingers	1/2	OMIM:612394
9469	CHST3	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
9469	CHST3	HP:0010585	Small epiphyses	HP:0040281	ORPHA:263463
9469	CHST3	HP:0010585	Small epiphyses	9/9	OMIM:143095
9469	CHST3	HP:0010582	Irregular epiphyses	HP:0040281	ORPHA:263463
9469	CHST3	HP:0003593	Infantile onset	1/5	OMIM:259770
9469	CHST3	HP:0003593	Infantile onset	9/9	OMIM:143095
9469	CHST3	HP:0003577	Congenital onset	4/5	OMIM:259770
9469	CHST3	HP:0003577	Congenital onset	6/6	OMIM:143095
9469	CHST3	HP:0002208	Coarse hair	1/1	OMIM:612394
9469	CHST3	HP:0003510	Severe short stature	7/7	OMIM:615777
9469	CHST3	HP:0003521	Disproportionate short-trunk short stature	HP:0040281	ORPHA:263463
9469	CHST3	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
9469	CHST3	HP:0025019	Arterial rupture	1/1	OMIM:612394
9469	CHST3	HP:0002315	Headache	-	OMIM:131300
9469	CHST3	HP:0004976	Knee dislocation	-	OMIM:245600
9469	CHST3	HP:0004976	Knee dislocation	16/20	OMIM:150250
9469	CHST3	HP:0004976	Knee dislocation	6/6	OMIM:143095
9469	CHST3	HP:0004976	Knee dislocation	6/7	OMIM:615777
9469	CHST3	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
9469	CHST3	HP:0001090	Abnormally large globe	-	OMIM:245600
9469	CHST3	HP:0009811	Abnormality of the elbow	HP:0040281	ORPHA:263463
9469	CHST3	HP:0009803	Short phalanx of finger	-	OMIM:143095
9469	CHST3	HP:0009803	Short phalanx of finger	-	OMIM:615777
9469	CHST3	HP:0001089	Iris atrophy	-	OMIM:259770
9469	CHST3	HP:0001087	Developmental glaucoma	-	OMIM:245600
9469	CHST3	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:143095
9469	CHST3	HP:0010743	Short metatarsal	-	OMIM:150250
9469	CHST3	HP:0009763	Limb pain	63/92	OMIM:131300
9469	CHST3	HP:0008434	Hypoplastic cervical vertebrae	-	OMIM:150250
9469	CHST3	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
9469	CHST3	HP:0003621	Juvenile onset	-	OMIM:131300
9469	CHST3	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
9469	CHST3	HP:0004942	Aortic aneurysm	-	OMIM:150250
9469	CHST3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9469	CHST3	HP:0004298	Abnormality of the abdominal wall	-	OMIM:245600
9469	CHST3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9469	CHST3	HP:0004232	Accessory carpal bones	-	OMIM:150250
9469	CHST3	HP:6001056	Out-toeing	-	OMIM:131300
9469	CHST3	HP:0000651	Diplopia	-	OMIM:131300
9469	CHST3	HP:0000646	Amblyopia	-	OMIM:245600
9469	CHST3	HP:0000618	Blindness	5/5	OMIM:259770
9469	CHST3	HP:0001956	Truncal obesity	2/7	OMIM:615777
9469	CHST3	HP:0001903	Anemia	HP:0040283	OMIM:131300
9469	CHST3	HP:0010049	Short metacarpal	HP:0040282	ORPHA:263463
9469	CHST3	HP:0010049	Short metacarpal	-	OMIM:143095
9469	CHST3	HP:0010049	Short metacarpal	-	OMIM:615777
9469	CHST3	HP:0010049	Short metacarpal	-	OMIM:150250
9469	CHST3	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:263463
9469	CHST3	HP:0000684	Delayed eruption of teeth	-	OMIM:143095
9469	CHST3	HP:0000678	Dental crowding	-	OMIM:615777
9469	CHST3	HP:0000691	Microdontia	-	OMIM:143095
9469	CHST3	HP:0000691	Microdontia	-	OMIM:245600
9469	CHST3	HP:0000687	Widely spaced teeth	-	OMIM:143095
9469	CHST3	HP:0000670	Carious teeth	-	OMIM:131300
9469	CHST3	HP:0011304	Broad thumb	2/7	OMIM:615777
9469	CHST3	HP:0000668	Hypodontia	-	OMIM:615777
9469	CHST3	HP:0000668	Hypodontia	-	OMIM:150250
9469	CHST3	HP:0000667	Phthisis bulbi	-	OMIM:259770
9469	CHST3	HP:0000664	Synophrys	-	OMIM:615777
9469	CHST3	HP:0004322	Short stature	18/22	OMIM:245600
9469	CHST3	HP:0004322	Short stature	-	OMIM:259770
9469	CHST3	HP:0004322	Short stature	15/15	OMIM:143095
9469	CHST3	HP:0004322	Short stature	14/20	OMIM:150250
9469	CHST3	HP:0005616	Accelerated skeletal maturation	-	OMIM:245600
9469	CHST3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:263463
9469	CHST3	HP:0003071	Flattened epiphysis	-	OMIM:143095
9469	CHST3	HP:0003083	Dislocated radial head	6/6	OMIM:143095
9469	CHST3	HP:0003083	Dislocated radial head	3/5	OMIM:245600
9469	CHST3	HP:0003051	Enlarged metaphyses	-	OMIM:245600
9469	CHST3	HP:0004396	Poor appetite	-	OMIM:131300
9469	CHST3	HP:0003037	Enlarged joints	HP:0040281	ORPHA:263463
9469	CHST3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9469	CHST3	HP:0003031	Ulnar bowing	-	OMIM:143095
9469	CHST3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9469	CHST3	HP:0003042	Elbow dislocation	-	OMIM:143095
9469	CHST3	HP:0003042	Elbow dislocation	13/20	OMIM:150250
9469	CHST3	HP:0003040	Arthropathy	-	OMIM:143095
9469	CHST3	HP:0003015	Flared metaphysis	3/5	OMIM:245600
9469	CHST3	HP:0003016	Metaphyseal widening	-	OMIM:259770
9469	CHST3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9469	CHST3	HP:0003026	Short long bone	7/7	OMIM:615777
9469	CHST3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9469	CHST3	HP:0003022	Hypoplasia of the ulna	-	OMIM:143095
9469	CHST3	HP:0000767	Pectus excavatum	-	OMIM:150250
9469	CHST3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9469	CHST3	HP:0000768	Pectus carinatum	-	OMIM:150250
9469	CHST3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9469	CHST3	HP:0000768	Pectus carinatum	HP:0040283	OMIM:245600
9469	CHST3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9469	CHST3	HP:0000750	Delayed speech and language development	-	OMIM:615777
9469	CHST3	HP:0009179	Deviation of the 5th finger	-	OMIM:143095
9469	CHST3	HP:0011461	Fetal onset	7/7	OMIM:615777
9469	CHST3	HP:0011461	Fetal onset	2/2	OMIM:612394
9469	CHST3	HP:0000774	Narrow chest	2/7	OMIM:615777
9469	CHST3	HP:0000774	Narrow chest	-	OMIM:245600
9469	CHST3	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	OMIM:245600
9469	CHST3	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
9469	CHST3	HP:0003196	Short nose	1/1	OMIM:612394
9469	CHST3	HP:0000914	Shield chest	-	OMIM:143095
9469	CHST3	HP:0000926	Platyspondyly	-	OMIM:259770
9469	CHST3	HP:0000926	Platyspondyly	1/7	OMIM:615777
9469	CHST3	HP:0000926	Platyspondyly	1/1	OMIM:612394
9469	CHST3	HP:0000926	Platyspondyly	1/19	OMIM:245600
9469	CHST3	HP:0003184	Decreased hip abduction	-	OMIM:143095
9469	CHST3	HP:0003180	Flat acetabular roof	-	OMIM:615777
9469	CHST3	HP:0004482	Relative macrocephaly	-	OMIM:615777
9469	CHST3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9469	CHST3	HP:0000878	11 pairs of ribs	HP:0040283	OMIM:245600
9469	CHST3	HP:0003093	Limited hip extension	9/9	OMIM:143095
9469	CHST3	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
9469	CHST3	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:143095
9469	CHST3	HP:0000823	Delayed puberty	-	OMIM:131300
9469	CHST3	HP:0000894	Short clavicles	-	OMIM:615777
9469	CHST3	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
9469	CHST3	HP:0004568	Beaking of vertebral bodies	-	OMIM:150250
9469	CHST3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9469	CHST3	HP:0003298	Spina bifida occulta	-	OMIM:150250
9469	CHST3	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:263463
9469	CHST3	HP:0045075	Sparse eyebrow	-	OMIM:143095
9469	CHST3	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
9469	CHST3	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
9469	CHST3	HP:0000974	Hyperextensible skin	HP:0040283	OMIM:245600
9469	CHST3	HP:0000973	Cutis laxa	-	OMIM:245600
9469	CHST3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9469	CHST3	HP:0000939	Osteoporosis	4/5	OMIM:259770
9469	CHST3	HP:0000939	Osteoporosis	-	OMIM:245600
9469	CHST3	HP:0000938	Osteopenia	1/5	OMIM:259770
9469	CHST3	HP:0000938	Osteopenia	1/1	OMIM:612394
9469	CHST3	HP:0000938	Osteopenia	11/12	OMIM:245600
9469	CHST3	HP:0040160	Generalized osteoporosis	HP:0040283	OMIM:245600
9469	CHST3	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
9469	CHST3	HP:6000970	Diminished sulfotransferase activity in cultured fibroblasts	2/2	OMIM:143095
9469	CHST3	HP:0000286	Epicanthus	1/7	OMIM:615777
9469	CHST3	HP:0000280	Coarse facial features	2/7	OMIM:615777
9469	CHST3	HP:0000274	Small face	-	OMIM:245600
9469	CHST3	HP:0000272	Malar flattening	-	OMIM:150250
9469	CHST3	HP:0000272	Malar flattening	1/1	OMIM:612394
9469	CHST3	HP:0006471	Fixed elbow flexion	-	OMIM:143095
9469	CHST3	HP:0006462	Generalized bone demineralization	-	OMIM:143095
9469	CHST3	HP:0007773	Vitreoretinopathy	-	OMIM:259770
9469	CHST3	HP:0002816	Genu recurvatum	3/6	OMIM:143095
9469	CHST3	HP:0002829	Arthralgia	-	OMIM:143095
9469	CHST3	HP:0002829	Arthralgia	HP:0040281	ORPHA:263463
9469	CHST3	HP:0002827	Hip dislocation	16/20	OMIM:150250
9469	CHST3	HP:0002827	Hip dislocation	3/7	OMIM:615777
9469	CHST3	HP:0002827	Hip dislocation	-	OMIM:245600
9469	CHST3	HP:0002808	Kyphosis	-	OMIM:143095
9469	CHST3	HP:0002808	Kyphosis	1/5	OMIM:259770
9469	CHST3	HP:0000238	Hydrocephalus	-	OMIM:245600
9469	CHST3	HP:0000252	Microcephaly	-	OMIM:259770
9469	CHST3	HP:0000252	Microcephaly	-	OMIM:615777
9469	CHST3	HP:0000248	Brachycephaly	-	OMIM:245600
9469	CHST3	HP:0001552	Barrel-shaped chest	HP:0040281	ORPHA:263463
9469	CHST3	HP:0001552	Barrel-shaped chest	-	OMIM:143095
9469	CHST3	HP:0001552	Barrel-shaped chest	-	OMIM:259770
9469	CHST3	HP:0000218	High palate	-	OMIM:143095
9469	CHST3	HP:0002857	Genu valgum	-	OMIM:131300
9469	CHST3	HP:0002857	Genu valgum	-	OMIM:143095
9469	CHST3	HP:0002857	Genu valgum	HP:0040281	ORPHA:263463
9469	CHST3	HP:0002857	Genu valgum	HP:0040283	OMIM:245600
9469	CHST3	HP:0001533	Slender build	-	OMIM:131300
9469	CHST3	HP:0000204	Cleft upper lip	-	OMIM:150250
9469	CHST3	HP:0001511	Intrauterine growth retardation	-	OMIM:150250
9469	CHST3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9469	CHST3	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
9469	CHST3	HP:0007807	Optic nerve compression	-	OMIM:131300
9469	CHST3	HP:0012368	Flat face	7/7	OMIM:615777
9469	CHST3	HP:0012368	Flat face	1/1	OMIM:612394
9469	CHST3	HP:0012368	Flat face	HP:0040283	OMIM:245600
9469	CHST3	HP:0012368	Flat face	-	OMIM:150250
9469	CHST3	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
9469	CHST3	HP:0007875	Congenital blindness	4/5	OMIM:259770
9469	CHST3	HP:0007862	Retinal calcification	1/5	OMIM:259770
9469	CHST3	HP:0002938	Lumbar hyperlordosis	-	OMIM:143095
9469	CHST3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9469	CHST3	HP:0002948	Vertebral fusion	8/16	OMIM:150250
9469	CHST3	HP:0002947	Cervical kyphosis	-	OMIM:150250
9469	CHST3	HP:0002945	Intervertebral space narrowing	9/9	OMIM:143095
9469	CHST3	HP:0002945	Intervertebral space narrowing	HP:0040281	ORPHA:263463
9469	CHST3	HP:0005180	Tricuspid regurgitation	-	OMIM:143095
9469	CHST3	HP:0000365	Hearing impairment	-	OMIM:143095
9469	CHST3	HP:0000365	Hearing impairment	10/67	OMIM:131300
9469	CHST3	HP:0000365	Hearing impairment	4/19	OMIM:150250
9469	CHST3	HP:0000369	Low-set ears	2/2	OMIM:612394
9469	CHST3	HP:0000369	Low-set ears	4/7	OMIM:245600
9469	CHST3	HP:0000343	Long philtrum	HP:0040282	OMIM:143095
9469	CHST3	HP:0000343	Long philtrum	HP:0040282	ORPHA:263463
9469	CHST3	HP:0000343	Long philtrum	1/7	OMIM:615777
9469	CHST3	HP:0000343	Long philtrum	4/4	OMIM:245600
9469	CHST3	HP:0011001	Increased bone mineral density	-	OMIM:131300
9469	CHST3	HP:0000337	Broad forehead	HP:0040282	OMIM:143095
9469	CHST3	HP:0000337	Broad forehead	HP:0040282	ORPHA:263463
9469	CHST3	HP:0000337	Broad forehead	3/5	OMIM:245600
9469	CHST3	HP:0000347	Micrognathia	HP:0040283	OMIM:245600
9469	CHST3	HP:0002982	Tibial bowing	1/5	OMIM:259770
9469	CHST3	HP:0002982	Tibial bowing	-	OMIM:143095
9469	CHST3	HP:0001650	Aortic valve stenosis	-	OMIM:143095
9469	CHST3	HP:0001647	Bicuspid aortic valve	-	OMIM:245600
9469	CHST3	HP:0000316	Hypertelorism	-	OMIM:143095
9469	CHST3	HP:0000316	Hypertelorism	HP:0040281	ORPHA:263463
9469	CHST3	HP:0000316	Hypertelorism	-	OMIM:150250
9469	CHST3	HP:0000316	Hypertelorism	-	OMIM:245600
9469	CHST3	HP:0000311	Round face	2/7	OMIM:615777
9469	CHST3	HP:0001642	Pulmonic stenosis	-	OMIM:143095
9469	CHST3	HP:0002974	Radioulnar synostosis	10/10	OMIM:245600
9469	CHST3	HP:0001659	Aortic regurgitation	-	OMIM:143095
9469	CHST3	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
9469	CHST3	HP:0002987	Elbow flexion contracture	-	OMIM:245600
9469	CHST3	HP:0001653	Mitral regurgitation	-	OMIM:143095
9469	CHST3	HP:0001655	Patent foramen ovale	-	OMIM:245600
9469	CHST3	HP:0001629	Ventricular septal defect	-	OMIM:143095
9469	CHST3	HP:0001629	Ventricular septal defect	-	OMIM:259770
9469	CHST3	HP:0001629	Ventricular septal defect	-	OMIM:150250
9469	CHST3	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
9469	CHST3	HP:0001623	Breech presentation	3/6	OMIM:143095
9469	CHST3	HP:0001640	Cardiomegaly	-	OMIM:245600
9469	CHST3	HP:0002970	Genu varum	-	OMIM:615777
9469	CHST3	HP:0000308	Microretrognathia	HP:0040283	OMIM:245600
9469	CHST3	HP:0000307	Pointed chin	1/2	OMIM:612394
9469	CHST3	HP:0002967	Cubitus valgus	HP:0040281	ORPHA:263463
9469	CHST3	HP:0002967	Cubitus valgus	-	OMIM:143095
9469	CHST3	HP:0001631	Atrial septal defect	-	OMIM:150250
9469	CHST3	HP:0001631	Atrial septal defect	-	OMIM:245600
9469	CHST3	HP:0000303	Mandibular prognathia	-	OMIM:131300
9469	CHST3	HP:0001634	Mitral valve prolapse	-	OMIM:245600
9469	CHST3	HP:0007957	Corneal opacity	-	OMIM:150250
9469	CHST3	HP:0006610	Wide intermamillary distance	-	OMIM:143095
9469	CHST3	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
9469	CHST3	HP:0000405	Conductive hearing impairment	-	OMIM:150250
9469	CHST3	HP:0001718	Mitral stenosis	-	OMIM:143095
9469	CHST3	HP:0001712	Left ventricular hypertrophy	-	OMIM:245600
9469	CHST3	HP:0001714	Ventricular hypertrophy	-	OMIM:143095
9469	CHST3	HP:0005280	Depressed nasal bridge	-	OMIM:150250
9469	CHST3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9469	CHST3	HP:0005280	Depressed nasal bridge	13/24	OMIM:245600
9469	CHST3	HP:0000494	Downslanted palpebral fissures	7/10	OMIM:245600
9469	CHST3	HP:0000463	Anteverted nares	1/1	OMIM:612394
9469	CHST3	HP:0000470	Short neck	-	OMIM:143095
9469	CHST3	HP:0000470	Short neck	1/7	OMIM:615777
9469	CHST3	HP:0000470	Short neck	-	OMIM:245600
9469	CHST3	HP:0000465	Webbed neck	8/14	OMIM:245600
9469	CHST3	HP:0001799	Short nail	-	OMIM:150250
9469	CHST3	HP:0001772	Talipes equinovalgus	-	OMIM:245600
9469	CHST3	HP:0001772	Talipes equinovalgus	-	OMIM:150250
9469	CHST3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9469	CHST3	HP:0001763	Pes planus	-	OMIM:143095
9469	CHST3	HP:0001763	Pes planus	1/7	OMIM:615777
9469	CHST3	HP:0001763	Pes planus	3/4	OMIM:245600
9469	CHST3	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
9469	CHST3	HP:0001762	Talipes equinovarus	6/6	OMIM:143095
9469	CHST3	HP:0001762	Talipes equinovarus	15/20	OMIM:150250
9469	CHST3	HP:0001762	Talipes equinovarus	-	OMIM:245600
9469	CHST3	HP:0000518	Cataract	1/5	OMIM:259770
9469	CHST3	HP:0000518	Cataract	1/1	OMIM:612394
9469	CHST3	HP:0001840	Metatarsus adductus	-	OMIM:615777
9469	CHST3	HP:0001840	Metatarsus adductus	-	OMIM:245600
9469	CHST3	HP:0001852	Sandal gap	6/13	OMIM:245600
9469	CHST3	HP:0000520	Proptosis	2/4	OMIM:131300
9469	CHST3	HP:0000520	Proptosis	7/7	OMIM:615777
9469	CHST3	HP:0000520	Proptosis	7/9	OMIM:245600
9469	CHST3	HP:0001822	Hallux valgus	9/12	OMIM:245600
9469	CHST3	HP:0000592	Blue sclerae	2/7	OMIM:615777
9469	CHST3	HP:0000592	Blue sclerae	8/10	OMIM:245600
9469	CHST3	HP:0000586	Shallow orbits	-	OMIM:150250
9469	CHST3	HP:0000586	Shallow orbits	1/1	OMIM:612394
9469	CHST3	HP:0011220	Prominent forehead	-	OMIM:150250
9469	CHST3	HP:0011220	Prominent forehead	-	OMIM:245600
9469	CHST3	HP:0000574	Thick eyebrow	-	OMIM:245600
9469	CHST3	HP:0000568	Microphthalmia	1/5	OMIM:259770
9469	CHST3	HP:0000565	Esotropia	-	OMIM:245600
9469	CHST3	HP:0000540	Hypermetropia	-	OMIM:245600
9469	CHST3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9469	CHST3	HP:0012514	Lower limb pain	4/4	OMIM:131300
9469	CHST3	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
9469	CHST3	HP:0000545	Myopia	1/1	OMIM:612394
9474	ATG5	HP:0001251	Ataxia	2/2	OMIM:617584
9474	ATG5	HP:0001260	Dysarthria	2/2	OMIM:617584
9474	ATG5	HP:0001263	Global developmental delay	2/2	OMIM:617584
9474	ATG5	HP:0001348	Brisk reflexes	2/2	OMIM:617584
9474	ATG5	HP:0000007	Autosomal recessive inheritance	-	OMIM:617584
9474	ATG5	HP:0001310	Dysmetria	2/2	OMIM:617584
9474	ATG5	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:617584
9474	ATG5	HP:0002078	Truncal ataxia	2/2	OMIM:617584
9474	ATG5	HP:0003487	Babinski sign	2/2	OMIM:617584
9474	ATG5	HP:0003593	Infantile onset	2/2	OMIM:617584
9474	ATG5	HP:0003680	Nonprogressive	-	OMIM:617584
9474	ATG5	HP:0000666	Horizontal nystagmus	2/2	OMIM:617584
9474	ATG5	HP:0031936	Delayed ability to walk	2/2	OMIM:617584
9479	MAPK8IP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
9479	MAPK8IP1	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
9479	MAPK8IP1	HP:0003584	Late onset	-	OMIM:125853
9479	MAPK8IP1	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
9479	MAPK8IP1	HP:0000855	Insulin resistance	-	OMIM:125853
9487	PIGL	HP:0001176	Large hands	1/1	OMIM:280000
9487	PIGL	HP:0002488	Acute leukemia	HP:0040283	ORPHA:3474
9487	PIGL	HP:0001156	Brachydactyly	1/2	OMIM:280000
9487	PIGL	HP:0001195	Single umbilical artery	HP:0040283	ORPHA:247262
9487	PIGL	HP:0009909	Uplifted earlobe	1/2	OMIM:280000
9487	PIGL	HP:0010882	Pulmonary valve atresia	HP:0040282	ORPHA:3474
9487	PIGL	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:247262
9487	PIGL	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:247262
9487	PIGL	HP:0001288	Gait disturbance	HP:0040283	ORPHA:247262
9487	PIGL	HP:0001250	Seizure	8/8	OMIM:280000
9487	PIGL	HP:0001250	Seizure	HP:0040281	ORPHA:247262
9487	PIGL	HP:0001250	Seizure	HP:0040282	ORPHA:3474
9487	PIGL	HP:0001252	Hypotonia	-	OMIM:280000
9487	PIGL	HP:0001251	Ataxia	HP:0040283	ORPHA:247262
9487	PIGL	HP:0001249	Intellectual disability	8/8	OMIM:280000
9487	PIGL	HP:0001249	Intellectual disability	HP:0040282	ORPHA:247262
9487	PIGL	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3474
9487	PIGL	HP:0001263	Global developmental delay	1/2	OMIM:280000
9487	PIGL	HP:0001263	Global developmental delay	HP:0040281	ORPHA:247262
9487	PIGL	HP:0002562	Low-set nipples	5/6	OMIM:280000
9487	PIGL	HP:0002557	Hypoplastic nipples	-	OMIM:280000
9487	PIGL	HP:0002558	Supernumerary nipple	HP:0040283	ORPHA:247262
9487	PIGL	HP:0006118	Shortening of all distal phalanges of the fingers	HP:0040281	ORPHA:247262
9487	PIGL	HP:0008760	Violent behavior	-	OMIM:280000
9487	PIGL	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:247262
9487	PIGL	HP:0002553	Highly arched eyebrow	1/2	OMIM:280000
9487	PIGL	HP:0000081	Duplicated collecting system	-	OMIM:280000
9487	PIGL	HP:0000098	Tall stature	HP:0040281	ORPHA:3474
9487	PIGL	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:3474
9487	PIGL	HP:0000074	Ureteropelvic junction obstruction	-	OMIM:280000
9487	PIGL	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000023	Inguinal hernia	1/2	OMIM:280000
9487	PIGL	HP:0002696	Abnormal parietal bone morphology	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000034	Hydrocele testis	1/2	OMIM:280000
9487	PIGL	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:247262
9487	PIGL	HP:0001357	Plagiocephaly	-	OMIM:280000
9487	PIGL	HP:0007477	Abnormal dermatoglyphics	HP:0040281	ORPHA:3474
9487	PIGL	HP:0033725	Thin corpus callosum	1/2	OMIM:280000
9487	PIGL	HP:0000007	Autosomal recessive inheritance	-	OMIM:280000
9487	PIGL	HP:0001336	Myoclonus	HP:0040283	ORPHA:247262
9487	PIGL	HP:0002650	Scoliosis	HP:0040283	ORPHA:247262
9487	PIGL	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000179	Thick lower lip vermilion	-	OMIM:280000
9487	PIGL	HP:0000194	Open mouth	1/2	OMIM:280000
9487	PIGL	HP:0000193	Bifid uvula	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:3474
9487	PIGL	HP:0000175	Cleft palate	4/8	OMIM:280000
9487	PIGL	HP:0000175	Cleft palate	HP:0040282	ORPHA:3474
9487	PIGL	HP:0002797	Osteolysis	HP:0040283	ORPHA:3474
9487	PIGL	HP:0000154	Wide mouth	-	OMIM:280000
9487	PIGL	HP:0410030	Cleft lip	1/8	OMIM:280000
9487	PIGL	HP:0008947	Floppy infant	HP:0040281	ORPHA:247262
9487	PIGL	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:3474
9487	PIGL	HP:0000126	Hydronephrosis	-	OMIM:280000
9487	PIGL	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:247262
9487	PIGL	HP:0002007	Frontal bossing	-	OMIM:280000
9487	PIGL	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:247262
9487	PIGL	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:280000
9487	PIGL	HP:0002066	Gait ataxia	1/2	OMIM:280000
9487	PIGL	HP:0002059	Cerebral atrophy	5/7	OMIM:280000
9487	PIGL	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:3474
9487	PIGL	HP:0009473	Joint contracture of the hand	-	OMIM:280000
9487	PIGL	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:3474
9487	PIGL	HP:0002136	Broad-based gait	-	OMIM:280000
9487	PIGL	HP:0003593	Infantile onset	2/2	OMIM:280000
9487	PIGL	HP:0002240	Hepatomegaly	1/2	OMIM:280000
9487	PIGL	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:247262
9487	PIGL	HP:0002213	Fine hair	HP:0040283	ORPHA:3474
9487	PIGL	HP:0002213	Fine hair	7/8	OMIM:280000
9487	PIGL	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:3474
9487	PIGL	HP:0002392	EEG with polyspike wave complexes	HP:0040283	ORPHA:247262
9487	PIGL	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:247262
9487	PIGL	HP:0001009	Telangiectasia	HP:0040283	ORPHA:247262
9487	PIGL	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:247262
9487	PIGL	HP:0200042	Skin ulcer	HP:0040283	ORPHA:3474
9487	PIGL	HP:0010783	Erythema	HP:0040281	ORPHA:3474
9487	PIGL	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	HP:0040282	ORPHA:3474
9487	PIGL	HP:0004969	Peripheral pulmonary artery stenosis	-	OMIM:280000
9487	PIGL	HP:0002307	Drooling	1/2	OMIM:280000
9487	PIGL	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:280000
9487	PIGL	HP:0006808	Cerebral hypomyelination	HP:0040283	ORPHA:247262
9487	PIGL	HP:0004279	Short palm	HP:0040282	ORPHA:3474
9487	PIGL	HP:0000639	Nystagmus	1/2	OMIM:280000
9487	PIGL	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:247262
9487	PIGL	HP:0000684	Delayed eruption of teeth	1/2	OMIM:280000
9487	PIGL	HP:0000691	Microdontia	HP:0040281	ORPHA:3474
9487	PIGL	HP:0000687	Widely spaced teeth	6/8	OMIM:280000
9487	PIGL	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000668	Hypodontia	HP:0040281	ORPHA:3474
9487	PIGL	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:247262
9487	PIGL	HP:0000666	Horizontal nystagmus	1/2	OMIM:280000
9487	PIGL	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/2	OMIM:280000
9487	PIGL	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/2	OMIM:280000
9487	PIGL	HP:0000767	Pectus excavatum	1/2	OMIM:280000
9487	PIGL	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:247262
9487	PIGL	HP:0100040	Broad 2nd toe	6/7	OMIM:280000
9487	PIGL	HP:0000717	Autism	HP:0040283	ORPHA:3474
9487	PIGL	HP:0000729	Autistic behavior	HP:0040283	ORPHA:247262
9487	PIGL	HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	HP:0040282	ORPHA:3474
9487	PIGL	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	-	OMIM:280000
9487	PIGL	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:247262
9487	PIGL	HP:0004415	Pulmonary artery stenosis	1/8	OMIM:280000
9487	PIGL	HP:0034295	Reduced cerebral white matter volume	1/2	OMIM:280000
9487	PIGL	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040281	ORPHA:247262
9487	PIGL	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/2	OMIM:280000
9487	PIGL	HP:0010281	Cleft lower lip	1/2	OMIM:280000
9487	PIGL	HP:0000972	Palmoplantar hyperkeratosis	5/6	OMIM:280000
9487	PIGL	HP:0000958	Dry skin	1/2	OMIM:280000
9487	PIGL	HP:0000962	Hyperkeratosis	HP:0040283	ORPHA:3474
9487	PIGL	HP:0008070	Sparse hair	HP:0040283	ORPHA:3474
9487	PIGL	HP:0008070	Sparse hair	7/8	OMIM:280000
9487	PIGL	HP:0008064	Ichthyosis	HP:0040281	ORPHA:3474
9487	PIGL	HP:0008064	Ichthyosis	8/8	OMIM:280000
9487	PIGL	HP:0040194	Increased head circumference	HP:0040283	ORPHA:247262
9487	PIGL	HP:0040195	Decreased head circumference	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000286	Epicanthus	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000286	Epicanthus	HP:0040281	ORPHA:3474
9487	PIGL	HP:0000286	Epicanthus	8/9	OMIM:280000
9487	PIGL	HP:0000280	Coarse facial features	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000280	Coarse facial features	1/2	OMIM:280000
9487	PIGL	HP:0000289	Broad philtrum	HP:0040283	ORPHA:247262
9487	PIGL	HP:0002827	Hip dislocation	HP:0040283	ORPHA:3474
9487	PIGL	HP:0030084	Clinodactyly	HP:0040283	ORPHA:247262
9487	PIGL	HP:0030084	Clinodactyly	2/2	OMIM:280000
9487	PIGL	HP:0000248	Brachycephaly	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000248	Brachycephaly	HP:0040281	ORPHA:3474
9487	PIGL	HP:0000248	Brachycephaly	7/7	OMIM:280000
9487	PIGL	HP:0000218	High palate	HP:0040283	ORPHA:247262
9487	PIGL	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:247262
9487	PIGL	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000232	Everted lower lip vermilion	1/2	OMIM:280000
9487	PIGL	HP:0001537	Umbilical hernia	1/2	OMIM:280000
9487	PIGL	HP:0001507	Growth abnormality	-	OMIM:280000
9487	PIGL	HP:0001520	Large for gestational age	-	OMIM:280000
9487	PIGL	HP:0001510	Growth delay	HP:0040282	ORPHA:247262
9487	PIGL	HP:0011069	Supernumerary tooth	HP:0040282	ORPHA:3474
9487	PIGL	HP:0012385	Camptodactyly	-	OMIM:280000
9487	PIGL	HP:0000378	Cupped ear	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000396	Overfolded helix	1/2	OMIM:280000
9487	PIGL	HP:0000391	Thickened helices	HP:0040283	ORPHA:247262
9487	PIGL	HP:0006482	Abnormal dental morphology	HP:0040281	ORPHA:3474
9487	PIGL	HP:0000365	Hearing impairment	HP:0040281	ORPHA:3474
9487	PIGL	HP:0000356	Abnormality of the outer ear	HP:0040281	ORPHA:3474
9487	PIGL	HP:0001669	Transposition of the great arteries	1/8	OMIM:280000
9487	PIGL	HP:0001669	Transposition of the great arteries	HP:0040282	ORPHA:3474
9487	PIGL	HP:0001682	Subvalvular aortic stenosis	1/8	OMIM:280000
9487	PIGL	HP:0000347	Micrognathia	HP:0040283	ORPHA:247262
9487	PIGL	HP:0032794	Myoclonic seizure	1/2	OMIM:280000
9487	PIGL	HP:0000316	Hypertelorism	HP:0040281	ORPHA:247262
9487	PIGL	HP:0000316	Hypertelorism	HP:0040281	ORPHA:3474
9487	PIGL	HP:0000316	Hypertelorism	8/9	OMIM:280000
9487	PIGL	HP:0000311	Round face	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000322	Short philtrum	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000322	Short philtrum	HP:0040281	ORPHA:3474
9487	PIGL	HP:0000322	Short philtrum	6/7	OMIM:280000
9487	PIGL	HP:0001629	Ventricular septal defect	2/8	OMIM:280000
9487	PIGL	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:3474
9487	PIGL	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:3474
9487	PIGL	HP:0001636	Tetralogy of Fallot	1/8	OMIM:280000
9487	PIGL	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:247262
9487	PIGL	HP:0007957	Corneal opacity	HP:0040282	ORPHA:3474
9487	PIGL	HP:0006660	Aplastic clavicle	HP:0040282	ORPHA:3474
9487	PIGL	HP:0005338	Sparse lateral eyebrow	1/2	OMIM:280000
9487	PIGL	HP:0000405	Conductive hearing impairment	8/8	OMIM:280000
9487	PIGL	HP:0001719	Double outlet right ventricle	1/8	OMIM:280000
9487	PIGL	HP:0005280	Depressed nasal bridge	9/10	OMIM:280000
9487	PIGL	HP:0000486	Strabismus	HP:0040281	ORPHA:3474
9487	PIGL	HP:0000486	Strabismus	1/2	OMIM:280000
9487	PIGL	HP:0000480	Retinal coloboma	8/8	OMIM:280000
9487	PIGL	HP:0000480	Retinal coloboma	HP:0040281	ORPHA:3474
9487	PIGL	HP:0012471	Thick vermilion border	HP:0040281	ORPHA:3474
9487	PIGL	HP:0012471	Thick vermilion border	6/8	OMIM:280000
9487	PIGL	HP:0001792	Small nail	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:3474
9487	PIGL	HP:0000470	Short neck	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000465	Webbed neck	-	OMIM:280000
9487	PIGL	HP:0001773	Short foot	HP:0040282	ORPHA:3474
9487	PIGL	HP:0001776	Bilateral talipes equinovarus	2/8	OMIM:280000
9487	PIGL	HP:0000414	Bulbous nose	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000431	Wide nasal bridge	18/18	OMIM:280000
9487	PIGL	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:247262
9487	PIGL	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:247262
9487	PIGL	HP:0006721	Acute lymphoblastic leukemia	1/8	OMIM:280000
9487	PIGL	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040281	ORPHA:3474
9487	PIGL	HP:0000506	Telecanthus	1/2	OMIM:280000
9487	PIGL	HP:0000508	Ptosis	HP:0040281	ORPHA:3474
9487	PIGL	HP:0000508	Ptosis	4/8	OMIM:280000
9487	PIGL	HP:0001833	Long foot	1/1	OMIM:280000
9487	PIGL	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:3474
9487	PIGL	HP:0000594	Shallow anterior chamber	HP:0040283	ORPHA:247262
9487	PIGL	HP:0011220	Prominent forehead	3/4	OMIM:280000
9487	PIGL	HP:0000565	Esotropia	HP:0040283	ORPHA:247262
9487	PIGL	HP:0000567	Chorioretinal coloboma	2/8	OMIM:280000
9487	PIGL	HP:0000540	Hypermetropia	HP:0040283	ORPHA:247262
9488	PIGB	HP:0001182	Tapered finger	-	OMIM:618580
9488	PIGB	HP:0001199	Triphalangeal thumb	3/14	OMIM:618580
9488	PIGB	HP:0009909	Uplifted earlobe	5/14	OMIM:618580
9488	PIGB	HP:0009882	Short distal phalanx of finger	-	OMIM:618580
9488	PIGB	HP:0001290	Generalized hypotonia	7/8	OMIM:618580
9488	PIGB	HP:0001284	Areflexia	2/11	OMIM:618580
9488	PIGB	HP:0001250	Seizure	14/14	OMIM:618580
9488	PIGB	HP:0001265	Hyporeflexia	1/11	OMIM:618580
9488	PIGB	HP:0001263	Global developmental delay	12/12	OMIM:618580
9488	PIGB	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:618580
9488	PIGB	HP:0000007	Autosomal recessive inheritance	-	OMIM:618580
9488	PIGB	HP:0000154	Wide mouth	1/9	OMIM:618580
9488	PIGB	HP:0025404	Abnormal visual fixation	-	OMIM:618580
9488	PIGB	HP:0002079	Hypoplasia of the corpus callosum	3/14	OMIM:618580
9488	PIGB	HP:0003477	Peripheral axonal neuropathy	-	OMIM:618580
9488	PIGB	HP:0002119	Ventriculomegaly	2/14	OMIM:618580
9488	PIGB	HP:0002126	Polymicrogyria	2/14	OMIM:618580
9488	PIGB	HP:0011968	Feeding difficulties	-	OMIM:618580
9488	PIGB	HP:0010804	Tented upper lip vermilion	2/14	OMIM:618580
9488	PIGB	HP:0010808	Protruding tongue	2/9	OMIM:618580
9488	PIGB	HP:0007141	Sensorimotor neuropathy	-	OMIM:618580
9488	PIGB	HP:0003155	Elevated circulating alkaline phosphatase concentration	8/9	OMIM:618580
9488	PIGB	HP:0000280	Coarse facial features	4/14	OMIM:618580
9488	PIGB	HP:0000293	Full cheeks	-	OMIM:618580
9488	PIGB	HP:0000218	High palate	2/9	OMIM:618580
9488	PIGB	HP:0001522	Death in infancy	-	OMIM:618580
9488	PIGB	HP:0001508	Failure to thrive	-	OMIM:618580
9488	PIGB	HP:0001510	Growth delay	-	OMIM:618580
9488	PIGB	HP:0000377	Abnormal pinna morphology	-	OMIM:618580
9488	PIGB	HP:0000396	Overfolded helix	3/9	OMIM:618580
9488	PIGB	HP:0000365	Hearing impairment	7/14	OMIM:618580
9488	PIGB	HP:0000358	Posteriorly rotated ears	2/9	OMIM:618580
9488	PIGB	HP:0000369	Low-set ears	3/14	OMIM:618580
9488	PIGB	HP:0000341	Narrow forehead	1/9	OMIM:618580
9488	PIGB	HP:0000343	Long philtrum	3/14	OMIM:618580
9488	PIGB	HP:0000347	Micrognathia	3/9	OMIM:618580
9488	PIGB	HP:0000319	Smooth philtrum	2/14	OMIM:618580
9488	PIGB	HP:0000316	Hypertelorism	-	OMIM:618580
9488	PIGB	HP:0000307	Pointed chin	-	OMIM:618580
9488	PIGB	HP:0001792	Small nail	5/14	OMIM:618580
9488	PIGB	HP:0012402	Increased urine alpha-ketoglutarate concentration	2/14	OMIM:618580
9488	PIGB	HP:0001762	Talipes equinovarus	-	OMIM:618580
9488	PIGB	HP:0000431	Wide nasal bridge	2/9	OMIM:618580
9488	PIGB	HP:0000520	Proptosis	1/9	OMIM:618580
9488	PIGB	HP:0000505	Visual impairment	-	OMIM:618580
9488	PIGB	HP:0000582	Upslanted palpebral fissure	1/9	OMIM:618580
9488	PIGB	HP:0000543	Optic disc pallor	-	OMIM:618580
9493	KIF23	HP:0025196	Increased total iron binding capacity	HP:0040282	ORPHA:98870
9493	KIF23	HP:0010972	Anemia of inadequate production	-	OMIM:105600
9493	KIF23	HP:0025354	Abnormal cellular phenotype	HP:0040282	ORPHA:98870
9493	KIF23	HP:0000006	Autosomal dominant inheritance	-	OMIM:105600
9493	KIF23	HP:0012130	Abnormal erythroid lineage cell morphology	HP:0040282	ORPHA:98870
9493	KIF23	HP:0025435	Increased circulating lactate dehydrogenase concentration	25/25	OMIM:105600
9493	KIF23	HP:0003452	Increased circulating iron concentration	HP:0040282	ORPHA:98870
9493	KIF23	HP:0011891	Post-partum hemorrhage	HP:0040283	ORPHA:98870
9493	KIF23	HP:0002249	Melena	HP:0040283	ORPHA:98870
9493	KIF23	HP:0004810	Congenital hypoplastic anemia	-	OMIM:105600
9493	KIF23	HP:0002315	Headache	HP:0040283	ORPHA:98870
9493	KIF23	HP:0025035	Abnormal proerythroblast morphology	HP:0040282	ORPHA:98870
9493	KIF23	HP:0020181	Reduced haptoglobin level	25/25	OMIM:105600
9493	KIF23	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:98870
9493	KIF23	HP:0001972	Macrocytic anemia	-	OMIM:105600
9493	KIF23	HP:0001903	Anemia	HP:0040281	ORPHA:98870
9493	KIF23	HP:0004322	Short stature	HP:0040284	ORPHA:98870
9493	KIF23	HP:0004447	Poikilocytosis	HP:0040281	ORPHA:98870
9493	KIF23	HP:0000980	Pallor	HP:0040283	ORPHA:98870
9493	KIF23	HP:0000952	Jaundice	-	OMIM:105600
9493	KIF23	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:98870
9493	KIF23	HP:0012378	Fatigue	HP:0040282	ORPHA:98870
9493	KIF23	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:98870
9493	KIF23	HP:0002904	Hyperbilirubinemia	HP:0040282	ORPHA:98870
9493	KIF23	HP:0030140	Oral cavity bleeding	HP:0040283	ORPHA:98870
9493	KIF23	HP:0011273	Anisocytosis	HP:0040281	ORPHA:98870
9493	KIF23	HP:0012543	Hemosiderinuria	-	OMIM:105600
9493	KIF23	HP:0001877	Abnormal erythrocyte morphology	HP:0040283	ORPHA:98870
9496	TBX4	HP:0009924	Aplasia/Hypoplasia involving the nose	HP:0040281	ORPHA:3301
9496	TBX4	HP:0008551	Microtia	HP:0040281	ORPHA:3301
9496	TBX4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9496	TBX4	HP:0001293	Cranial nerve compression	-	OMIM:131300
9496	TBX4	HP:0100807	Long fingers	HP:0040281	ORPHA:261279
9496	TBX4	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:3301
9496	TBX4	HP:0001252	Hypotonia	HP:0040283	ORPHA:261279
9496	TBX4	HP:0001252	Hypotonia	2/7	OMIM:615777
9496	TBX4	HP:0001249	Intellectual disability	5/7	OMIM:615777
9496	TBX4	HP:0001263	Global developmental delay	-	OMIM:615777
9496	TBX4	HP:0100842	Septo-optic dysplasia	HP:0040282	ORPHA:3301
9496	TBX4	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:3301
9496	TBX4	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:261279
9496	TBX4	HP:0002515	Waddling gait	54/102	OMIM:131300
9496	TBX4	HP:0008801	Hypoplasia of the lesser trochanter	-	OMIM:147891
9496	TBX4	HP:0000046	Small scrotum	HP:0040282	ORPHA:3301
9496	TBX4	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:261279
9496	TBX4	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:238578
9496	TBX4	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:1509
9496	TBX4	HP:0001382	Joint hypermobility	-	OMIM:615777
9496	TBX4	HP:0000049	Shawl scrotum	HP:0040283	ORPHA:261279
9496	TBX4	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:261279
9496	TBX4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9496	TBX4	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3301
9496	TBX4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9496	TBX4	HP:0008784	Wide capital femoral epiphyses	-	OMIM:147891
9496	TBX4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9496	TBX4	HP:0001324	Muscle weakness	40/96	OMIM:131300
9496	TBX4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9496	TBX4	HP:0000007	Autosomal recessive inheritance	-	OMIM:601360
9496	TBX4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9496	TBX4	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:3301
9496	TBX4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9496	TBX4	HP:0000006	Autosomal dominant inheritance	-	OMIM:147891
9496	TBX4	HP:0002650	Scoliosis	HP:0040283	ORPHA:261279
9496	TBX4	HP:0002650	Scoliosis	12/14	OMIM:131300
9496	TBX4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9496	TBX4	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040282	ORPHA:1509
9496	TBX4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9496	TBX4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9496	TBX4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9496	TBX4	HP:0000160	Narrow mouth	HP:0040282	ORPHA:3301
9496	TBX4	HP:0000160	Narrow mouth	HP:0040283	ORPHA:261279
9496	TBX4	HP:0000175	Cleft palate	-	OMIM:147891
9496	TBX4	HP:0000175	Cleft palate	2/7	OMIM:615777
9496	TBX4	HP:0000148	Vaginal atresia	HP:0040282	ORPHA:3301
9496	TBX4	HP:0007598	Bilateral single transverse palmar creases	HP:0040283	ORPHA:261279
9496	TBX4	HP:0002777	Tracheal stenosis	HP:0040282	ORPHA:3301
9496	TBX4	HP:0002023	Anal atresia	HP:0040282	ORPHA:3301
9496	TBX4	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:261279
9496	TBX4	HP:0002007	Frontal bossing	HP:0040282	ORPHA:261279
9496	TBX4	HP:0011803	Bifid nose	HP:0040283	ORPHA:261279
9496	TBX4	HP:0002094	Dyspnea	HP:0040283	ORPHA:261279
9496	TBX4	HP:0002092	Pulmonary arterial hypertension	HP:0040282	ORPHA:261279
9496	TBX4	HP:0003370	Flat capital femoral epiphysis	-	OMIM:147891
9496	TBX4	HP:0003388	Easy fatigability	36/76	OMIM:131300
9496	TBX4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9496	TBX4	HP:0100569	Abnormally ossified vertebrae	HP:0040282	ORPHA:3301
9496	TBX4	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:1509
9496	TBX4	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:261279
9496	TBX4	HP:0010494	Acromelia of the lower limbs	HP:0040282	ORPHA:3301
9496	TBX4	HP:0002101	Abnormal lung lobation	HP:0040282	ORPHA:3301
9496	TBX4	HP:0010511	Long toe	HP:0040281	ORPHA:261279
9496	TBX4	HP:0008368	Tarsal synostosis	-	OMIM:147891
9496	TBX4	HP:0003510	Severe short stature	7/7	OMIM:615777
9496	TBX4	HP:0002315	Headache	-	OMIM:131300
9496	TBX4	HP:0004976	Knee dislocation	6/7	OMIM:615777
9496	TBX4	HP:0009827	Amelia	-	OMIM:601360
9496	TBX4	HP:0009812	Amelia involving the upper limbs	HP:0040282	ORPHA:3301
9496	TBX4	HP:0009803	Short phalanx of finger	-	OMIM:615777
9496	TBX4	HP:0009763	Limb pain	63/92	OMIM:131300
9496	TBX4	HP:0003621	Juvenile onset	-	OMIM:131300
9496	TBX4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9496	TBX4	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:261279
9496	TBX4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9496	TBX4	HP:6001056	Out-toeing	-	OMIM:131300
9496	TBX4	HP:0000651	Diplopia	-	OMIM:131300
9496	TBX4	HP:0000648	Optic atrophy	HP:0040282	ORPHA:3301
9496	TBX4	HP:0000612	Iris coloboma	HP:0040282	ORPHA:3301
9496	TBX4	HP:0001956	Truncal obesity	2/7	OMIM:615777
9496	TBX4	HP:0001903	Anemia	HP:0040283	OMIM:131300
9496	TBX4	HP:0010049	Short metacarpal	-	OMIM:615777
9496	TBX4	HP:0011343	Moderate global developmental delay	HP:0040281	ORPHA:261279
9496	TBX4	HP:0011342	Mild global developmental delay	HP:0040281	ORPHA:261279
9496	TBX4	HP:0000678	Dental crowding	-	OMIM:615777
9496	TBX4	HP:0000687	Widely spaced teeth	HP:0040283	ORPHA:261279
9496	TBX4	HP:0000670	Carious teeth	-	OMIM:131300
9496	TBX4	HP:0011304	Broad thumb	2/7	OMIM:615777
9496	TBX4	HP:0000668	Hypodontia	-	OMIM:615777
9496	TBX4	HP:0000664	Synophrys	-	OMIM:615777
9496	TBX4	HP:0004322	Short stature	HP:0040282	ORPHA:238578
9496	TBX4	HP:0004322	Short stature	HP:0040282	ORPHA:261279
9496	TBX4	HP:0004322	Short stature	-	OMIM:147891
9496	TBX4	HP:0003057	Tetraamelia	HP:0040281	ORPHA:3301
9496	TBX4	HP:0004396	Poor appetite	-	OMIM:131300
9496	TBX4	HP:0003065	Patellar hypoplasia	15/15	OMIM:147891
9496	TBX4	HP:0003065	Patellar hypoplasia	HP:0040283	ORPHA:261279
9496	TBX4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9496	TBX4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9496	TBX4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9496	TBX4	HP:0003026	Short long bone	7/7	OMIM:615777
9496	TBX4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9496	TBX4	HP:0005682	Talocalcaneal synostosis	-	OMIM:147891
9496	TBX4	HP:0009103	Aplasia/Hypoplasia involving the pelvis	HP:0040281	ORPHA:3301
9496	TBX4	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:3301
9496	TBX4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9496	TBX4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9496	TBX4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9496	TBX4	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:261279
9496	TBX4	HP:0000750	Delayed speech and language development	-	OMIM:615777
9496	TBX4	HP:0000708	Atypical behavior	HP:0040283	ORPHA:261279
9496	TBX4	HP:0011461	Fetal onset	7/7	OMIM:615777
9496	TBX4	HP:0000774	Narrow chest	2/7	OMIM:615777
9496	TBX4	HP:0000926	Platyspondyly	1/7	OMIM:615777
9496	TBX4	HP:0000921	Missing ribs	HP:0040282	ORPHA:3301
9496	TBX4	HP:0003182	Shallow acetabular fossae	HP:0040283	ORPHA:261279
9496	TBX4	HP:0003180	Flat acetabular roof	-	OMIM:615777
9496	TBX4	HP:0004482	Relative macrocephaly	-	OMIM:615777
9496	TBX4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9496	TBX4	HP:0100335	Non-midline cleft of the upper lip	HP:0040282	ORPHA:3301
9496	TBX4	HP:0003097	Short femur	-	OMIM:147891
9496	TBX4	HP:0000823	Delayed puberty	-	OMIM:131300
9496	TBX4	HP:0000894	Short clavicles	-	OMIM:615777
9496	TBX4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9496	TBX4	HP:0003279	Coxa magna	HP:0040283	ORPHA:261279
9496	TBX4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9496	TBX4	HP:0000960	Sacral dimple	HP:0040283	ORPHA:261279
9496	TBX4	HP:0000286	Epicanthus	HP:0040283	ORPHA:261279
9496	TBX4	HP:0000286	Epicanthus	1/7	OMIM:615777
9496	TBX4	HP:0000280	Coarse facial features	2/7	OMIM:615777
9496	TBX4	HP:0000293	Full cheeks	HP:0040282	ORPHA:3301
9496	TBX4	HP:0001597	Abnormal nail morphology	0/15	OMIM:147891
9496	TBX4	HP:0000272	Malar flattening	HP:0040283	ORPHA:261279
9496	TBX4	HP:0006443	Patellar aplasia	-	OMIM:147891
9496	TBX4	HP:0002815	Abnormality of the knee	HP:0040281	ORPHA:1509
9496	TBX4	HP:0002812	Coxa vara	-	OMIM:147891
9496	TBX4	HP:0002827	Hip dislocation	3/7	OMIM:615777
9496	TBX4	HP:0002803	Congenital contracture	HP:0040283	ORPHA:261279
9496	TBX4	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:3301
9496	TBX4	HP:0000252	Microcephaly	HP:0040282	ORPHA:261279
9496	TBX4	HP:0000252	Microcephaly	-	OMIM:615777
9496	TBX4	HP:0000218	High palate	-	OMIM:147891
9496	TBX4	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:3301
9496	TBX4	HP:0002857	Genu valgum	-	OMIM:131300
9496	TBX4	HP:0000202	Orofacial cleft	HP:0040281	ORPHA:3301
9496	TBX4	HP:0001533	Slender build	-	OMIM:131300
9496	TBX4	HP:0001508	Failure to thrive	HP:0040283	ORPHA:261279
9496	TBX4	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:261279
9496	TBX4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9496	TBX4	HP:0007807	Optic nerve compression	-	OMIM:131300
9496	TBX4	HP:0012368	Flat face	7/7	OMIM:615777
9496	TBX4	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:261279
9496	TBX4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9496	TBX4	HP:0001600	Abnormality of the larynx	HP:0040282	ORPHA:3301
9496	TBX4	HP:0006498	Aplasia/Hypoplasia of the patella	HP:0040281	ORPHA:1509
9496	TBX4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:261279
9496	TBX4	HP:0000365	Hearing impairment	10/67	OMIM:131300
9496	TBX4	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:3301
9496	TBX4	HP:0000343	Long philtrum	1/7	OMIM:615777
9496	TBX4	HP:0011001	Increased bone mineral density	-	OMIM:131300
9496	TBX4	HP:0002999	Patellar dislocation	-	OMIM:147891
9496	TBX4	HP:0000347	Micrognathia	-	OMIM:147891
9496	TBX4	HP:0000347	Micrognathia	HP:0040282	ORPHA:3301
9496	TBX4	HP:0000316	Hypertelorism	HP:0040283	ORPHA:261279
9496	TBX4	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:261279
9496	TBX4	HP:0000311	Round face	2/7	OMIM:615777
9496	TBX4	HP:0002970	Genu varum	-	OMIM:615777
9496	TBX4	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:261279
9496	TBX4	HP:0000303	Mandibular prognathia	-	OMIM:131300
9496	TBX4	HP:0000498	Blepharitis	HP:0040283	ORPHA:261279
9496	TBX4	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:261279
9496	TBX4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9496	TBX4	HP:0000486	Strabismus	HP:0040283	ORPHA:261279
9496	TBX4	HP:0000482	Microcornea	HP:0040282	ORPHA:3301
9496	TBX4	HP:0000470	Short neck	1/7	OMIM:615777
9496	TBX4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9496	TBX4	HP:0001763	Pes planus	-	OMIM:147891
9496	TBX4	HP:0001763	Pes planus	1/7	OMIM:615777
9496	TBX4	HP:0001763	Pes planus	HP:0040283	ORPHA:261279
9496	TBX4	HP:0000414	Bulbous nose	HP:0040283	ORPHA:261279
9496	TBX4	HP:0000411	Protruding ear	HP:0040283	ORPHA:261279
9496	TBX4	HP:0001762	Talipes equinovarus	HP:0040281	ORPHA:238578
9496	TBX4	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040281	ORPHA:3301
9496	TBX4	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040282	ORPHA:3301
9496	TBX4	HP:0000518	Cataract	HP:0040282	ORPHA:3301
9496	TBX4	HP:0001840	Metatarsus adductus	-	OMIM:615777
9496	TBX4	HP:0000527	Long eyelashes	HP:0040283	ORPHA:261279
9496	TBX4	HP:0001852	Sandal gap	HP:0040283	ORPHA:261279
9496	TBX4	HP:0001852	Sandal gap	-	OMIM:147891
9496	TBX4	HP:0000520	Proptosis	2/4	OMIM:131300
9496	TBX4	HP:0000520	Proptosis	7/7	OMIM:615777
9496	TBX4	HP:0001800	Hypoplastic toenails	HP:0040283	ORPHA:238578
9496	TBX4	HP:0000592	Blue sclerae	2/7	OMIM:615777
9496	TBX4	HP:0000568	Microphthalmia	HP:0040282	ORPHA:3301
9496	TBX4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9496	TBX4	HP:0012514	Lower limb pain	4/4	OMIM:131300
9497	SLC4A7	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
9497	SLC4A7	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
9497	SLC4A7	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
9497	SLC4A7	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
9497	SLC4A7	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
9497	SLC4A7	HP:0003621	Juvenile onset	8/19	OMIM:180100
9497	SLC4A7	HP:0000662	Nyctalopia	26/28	OMIM:180100
9497	SLC4A7	HP:0011463	Childhood onset	3/19	OMIM:180100
9497	SLC4A7	HP:0011462	Young adult onset	8/19	OMIM:180100
9497	SLC4A7	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
9497	SLC4A7	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
9497	SLC4A7	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
9497	SLC4A7	HP:0000575	Scotoma	5/18	OMIM:180100
9497	SLC4A7	HP:0000543	Optic disc pallor	1/1	OMIM:180100
9497	SLC4A7	HP:0000545	Myopia	-	OMIM:180100
9499	MYOT	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:98911
9499	MYOT	HP:0003749	Pelvic girdle muscle weakness	HP:0040281	ORPHA:98911
9499	MYOT	HP:0003736	Autophagic vacuoles	HP:0040282	ORPHA:98911
9499	MYOT	HP:0003701	Proximal muscle weakness	-	OMIM:609200
9499	MYOT	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:98911
9499	MYOT	HP:0003715	Myofibrillar myopathy	-	OMIM:609200
9499	MYOT	HP:0001271	Polyneuropathy	-	OMIM:609200
9499	MYOT	HP:0001288	Gait disturbance	HP:0040281	ORPHA:98911
9499	MYOT	HP:0001284	Areflexia	-	OMIM:609200
9499	MYOT	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:98911
9499	MYOT	HP:0001260	Dysarthria	HP:0040282	ORPHA:98911
9499	MYOT	HP:0002540	Inability to walk	HP:0040282	ORPHA:98911
9499	MYOT	HP:0000006	Autosomal dominant inheritance	-	OMIM:609200
9499	MYOT	HP:0002600	Hyporeflexia of lower limbs	-	OMIM:609200
9499	MYOT	HP:0002795	Abnormal respiratory system physiology	HP:0040283	ORPHA:98911
9499	MYOT	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:98911
9499	MYOT	HP:0003326	Myalgia	-	OMIM:609200
9499	MYOT	HP:0002015	Dysphagia	HP:0040283	ORPHA:98911
9499	MYOT	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:98911
9499	MYOT	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98911
9499	MYOT	HP:0003581	Adult onset	-	OMIM:609200
9499	MYOT	HP:0003555	Muscle fiber splitting	1/1	OMIM:609200
9499	MYOT	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:98911
9499	MYOT	HP:0003552	Muscle stiffness	-	OMIM:609200
9499	MYOT	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:98911
9499	MYOT	HP:0003547	Shoulder girdle muscle weakness	HP:0040281	ORPHA:98911
9499	MYOT	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:609200
9499	MYOT	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:98911
9499	MYOT	HP:0003698	Difficulty standing	HP:0040282	ORPHA:98911
9499	MYOT	HP:0003693	Distal amyotrophy	-	OMIM:609200
9499	MYOT	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:98911
9499	MYOT	HP:0003687	Centrally nucleated skeletal muscle fibers	1/1	OMIM:609200
9499	MYOT	HP:0003677	Slowly progressive	-	OMIM:609200
9499	MYOT	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:98911
9499	MYOT	HP:0009073	Progressive proximal muscle weakness	HP:0040283	ORPHA:98911
9499	MYOT	HP:0009063	Progressive distal muscle weakness	HP:0040281	ORPHA:98911
9499	MYOT	HP:0009063	Progressive distal muscle weakness	-	OMIM:609200
9499	MYOT	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:98911
9499	MYOT	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	-	OMIM:609200
9499	MYOT	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:609200
9499	MYOT	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:98911
9499	MYOT	HP:0100297	Increased endomysial connective tissue	HP:0040282	ORPHA:98911
9499	MYOT	HP:0000297	Facial hypotonia	HP:0040283	ORPHA:98911
9499	MYOT	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:98911
9499	MYOT	HP:0005085	Limited knee flexion/extension	HP:0040282	ORPHA:98911
9499	MYOT	HP:0006376	Limited elbow flexion	HP:0040282	ORPHA:98911
9499	MYOT	HP:0002878	Respiratory failure	HP:0040283	ORPHA:98911
9499	MYOT	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:98911
9499	MYOT	HP:0001638	Cardiomyopathy	-	OMIM:609200
9499	MYOT	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:98911
9499	MYOT	HP:0012496	Reduced maximal inspiratory pressure	HP:0040283	ORPHA:98911
9499	MYOT	HP:0030226	Abnormal muscle fiber myotilin	HP:0040281	ORPHA:98911
9499	MYOT	HP:0001771	Achilles tendon contracture	-	OMIM:609200
9499	MYOT	HP:0006794	Loss of ability to walk in first decade	HP:0040282	ORPHA:98911
9499	MYOT	HP:0012548	Fatty replacement of skeletal muscle	HP:0040282	ORPHA:98911
9499	MYOT	HP:0012515	Hip flexor weakness	HP:0040282	ORPHA:98911
9508	ADAMTS3	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0001250	Seizure	HP:0040282	ORPHA:2136
9508	ADAMTS3	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2136
9508	ADAMTS3	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0000034	Hydrocele testis	1/1	OMIM:618154
9508	ADAMTS3	HP:0000007	Autosomal recessive inheritance	-	OMIM:618154
9508	ADAMTS3	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
9508	ADAMTS3	HP:0001302	Pachygyria	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0002619	Varicose veins	-	OMIM:153400
9508	ADAMTS3	HP:0000160	Narrow mouth	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0000175	Cleft palate	5/39	OMIM:153400
9508	ADAMTS3	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:2136
9508	ADAMTS3	HP:0002024	Malabsorption	HP:0040281	ORPHA:2136
9508	ADAMTS3	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0002076	Migraine	1/2	OMIM:618154
9508	ADAMTS3	HP:0002108	Spontaneous pneumothorax	1/2	OMIM:618154
9508	ADAMTS3	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0011830	Abnormal oral mucosa morphology	HP:0040282	ORPHA:2136
9508	ADAMTS3	HP:0003577	Congenital onset	2/2	OMIM:618154
9508	ADAMTS3	HP:0002243	Protein-losing enteropathy	2/2	OMIM:618154
9508	ADAMTS3	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
9508	ADAMTS3	HP:0002215	Sparse axillary hair	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:2136
9508	ADAMTS3	HP:0100764	Lymphangioma	HP:0040281	ORPHA:2136
9508	ADAMTS3	HP:0009743	Distichiasis	42/42	OMIM:153400
9508	ADAMTS3	HP:0011968	Feeding difficulties	1/2	OMIM:618154
9508	ADAMTS3	HP:0001055	Erysipelas	HP:0040282	ORPHA:2136
9508	ADAMTS3	HP:0001004	Lymphedema	HP:0040281	ORPHA:2136
9508	ADAMTS3	HP:0001004	Lymphedema	2/2	OMIM:618154
9508	ADAMTS3	HP:0001004	Lymphedema	-	OMIM:153400
9508	ADAMTS3	HP:0100658	Cellulitis	2/6	OMIM:153400
9508	ADAMTS3	HP:0009804	Tooth agenesis	HP:0040281	ORPHA:2136
9508	ADAMTS3	HP:0000613	Photophobia	10/49	OMIM:153400
9508	ADAMTS3	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
9508	ADAMTS3	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:2136
9508	ADAMTS3	HP:0000656	Ectropion	2/43	OMIM:153400
9508	ADAMTS3	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:2136
9508	ADAMTS3	HP:0000664	Synophrys	1/2	OMIM:618154
9508	ADAMTS3	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:2136
9508	ADAMTS3	HP:0003011	Abnormality of the musculature	-	OMIM:153400
9508	ADAMTS3	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0000774	Narrow chest	HP:0040282	ORPHA:2136
9508	ADAMTS3	HP:0012804	Corneal ulceration	-	OMIM:153400
9508	ADAMTS3	HP:0010310	Chylothorax	1/6	OMIM:153400
9508	ADAMTS3	HP:0010310	Chylothorax	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0011675	Arrhythmia	-	OMIM:153400
9508	ADAMTS3	HP:0000286	Epicanthus	HP:0040282	ORPHA:2136
9508	ADAMTS3	HP:0000278	Retrognathia	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0002808	Kyphosis	2/5	OMIM:153400
9508	ADAMTS3	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:2136
9508	ADAMTS3	HP:0001561	Polyhydramnios	2/2	OMIM:618154
9508	ADAMTS3	HP:0001530	Mild postnatal growth retardation	HP:0040281	ORPHA:2136
9508	ADAMTS3	HP:0001541	Ascites	HP:0040282	ORPHA:2136
9508	ADAMTS3	HP:0000204	Cleft upper lip	-	OMIM:153400
9508	ADAMTS3	HP:0011069	Supernumerary tooth	HP:0040281	ORPHA:2136
9508	ADAMTS3	HP:0012368	Flat face	HP:0040281	ORPHA:2136
9508	ADAMTS3	HP:0012368	Flat face	1/2	OMIM:618154
9508	ADAMTS3	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:2136
9508	ADAMTS3	HP:0006521	Pulmonary lymphangiectasia	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0006482	Abnormal dental morphology	HP:0040281	ORPHA:2136
9508	ADAMTS3	HP:0001698	Pericardial effusion	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0000369	Low-set ears	HP:0040281	ORPHA:2136
9508	ADAMTS3	HP:0000337	Broad forehead	HP:0040282	ORPHA:2136
9508	ADAMTS3	HP:0000347	Micrognathia	2/5	OMIM:153400
9508	ADAMTS3	HP:0000316	Hypertelorism	2/2	OMIM:618154
9508	ADAMTS3	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2136
9508	ADAMTS3	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
9508	ADAMTS3	HP:0000322	Short philtrum	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
9508	ADAMTS3	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
9508	ADAMTS3	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:2136
9508	ADAMTS3	HP:0000486	Strabismus	2/2	OMIM:618154
9508	ADAMTS3	HP:0000476	Cystic hygroma	2/43	OMIM:153400
9508	ADAMTS3	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
9508	ADAMTS3	HP:0000463	Anteverted nares	1/2	OMIM:618154
9508	ADAMTS3	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
9508	ADAMTS3	HP:0001789	Hydrops fetalis	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0000465	Webbed neck	6/43	OMIM:153400
9508	ADAMTS3	HP:0001744	Splenomegaly	HP:0040282	ORPHA:2136
9508	ADAMTS3	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:2136
9508	ADAMTS3	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:2136
9508	ADAMTS3	HP:0000509	Conjunctivitis	-	OMIM:153400
9508	ADAMTS3	HP:0000508	Ptosis	2/39	OMIM:153400
9508	ADAMTS3	HP:0000501	Glaucoma	HP:0040282	ORPHA:2136
9508	ADAMTS3	HP:0000582	Upslanted palpebral fissure	1/2	OMIM:618154
9508	ADAMTS3	HP:0001888	Decreased total lymphocyte count	HP:0040281	ORPHA:2136
9508	ADAMTS3	HP:0000568	Microphthalmia	1/6	OMIM:153400
9509	ADAMTS2	HP:0001270	Motor delay	3/5	OMIM:225410
9509	ADAMTS2	HP:0001252	Hypotonia	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0007392	Excessive wrinkled skin	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0001373	Joint dislocation	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0001367	Abnormal joint morphology	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0001385	Hip dysplasia	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0001382	Joint hypermobility	5/5	OMIM:225410
9509	ADAMTS2	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:1901
9509	ADAMTS2	HP:0000023	Inguinal hernia	-	OMIM:225410
9509	ADAMTS2	HP:0008897	Postnatal growth retardation	5/5	OMIM:225410
9509	ADAMTS2	HP:0002673	Coxa valga	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:225410
9509	ADAMTS2	HP:0002650	Scoliosis	HP:0040282	ORPHA:1901
9509	ADAMTS2	HP:0001476	Delayed closure of the anterior fontanelle	4/4	OMIM:225410
9509	ADAMTS2	HP:0002748	Rickets	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0002749	Osteomalacia	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0002036	Hiatus hernia	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0100541	Femoral hernia	HP:0040282	ORPHA:1901
9509	ADAMTS2	HP:0010529	Echolalia	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0003593	Infantile onset	1/4	OMIM:225410
9509	ADAMTS2	HP:0003577	Congenital onset	3/4	OMIM:225410
9509	ADAMTS2	HP:0004876	Spontaneous neonatal pneumothorax	1/15	OMIM:225410
9509	ADAMTS2	HP:0100790	Hernia	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0200094	Frontal open bite	-	OMIM:225410
9509	ADAMTS2	HP:0010648	Dermal translucency	3/3	OMIM:225410
9509	ADAMTS2	HP:0003510	Severe short stature	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0001058	Poor wound healing	4/5	OMIM:225410
9509	ADAMTS2	HP:0002381	Aphasia	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0001030	Fragile skin	5/5	OMIM:225410
9509	ADAMTS2	HP:0001027	Soft, doughy skin	5/5	OMIM:225410
9509	ADAMTS2	HP:0001007	Hirsutism	2/4	OMIM:225410
9509	ADAMTS2	HP:0001001	Abnormality of subcutaneous fat tissue	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0009826	Limb undergrowth	4/4	OMIM:225410
9509	ADAMTS2	HP:0001075	Atrophic scars	3/4	OMIM:225410
9509	ADAMTS2	HP:0009803	Short phalanx of finger	-	OMIM:225410
9509	ADAMTS2	HP:0100633	Esophagitis	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0100699	Scarring	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0010749	Blepharochalasis	3/10	OMIM:225410
9509	ADAMTS2	HP:0002300	Mutism	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0000668	Hypodontia	1/2	OMIM:225410
9509	ADAMTS2	HP:0004322	Short stature	-	OMIM:225410
9509	ADAMTS2	HP:0003010	Prolonged bleeding time	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0000978	Bruising susceptibility	4/4	OMIM:225410
9509	ADAMTS2	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0000974	Hyperextensible skin	4/4	OMIM:225410
9509	ADAMTS2	HP:0000963	Thin skin	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0000939	Osteoporosis	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0000938	Osteopenia	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0000938	Osteopenia	-	OMIM:225410
9509	ADAMTS2	HP:0000286	Epicanthus	HP:0040282	ORPHA:1901
9509	ADAMTS2	HP:0000286	Epicanthus	5/5	OMIM:225410
9509	ADAMTS2	HP:0000278	Retrognathia	HP:0040282	ORPHA:1901
9509	ADAMTS2	HP:0000260	Wide anterior fontanel	4/4	OMIM:225410
9509	ADAMTS2	HP:0002812	Coxa vara	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0002827	Hip dislocation	HP:0040281	ORPHA:1901
9509	ADAMTS2	HP:0001582	Redundant skin	2/5	OMIM:225410
9509	ADAMTS2	HP:0000222	Gingival hyperkeratosis	2/2	OMIM:225410
9509	ADAMTS2	HP:0000212	Gingival overgrowth	6/15	OMIM:225410
9509	ADAMTS2	HP:0000232	Everted lower lip vermilion	-	OMIM:225410
9509	ADAMTS2	HP:0000225	Gingival bleeding	1/1	OMIM:225410
9509	ADAMTS2	HP:0001537	Umbilical hernia	5/5	OMIM:225410
9509	ADAMTS2	HP:0000369	Low-set ears	2/5	OMIM:225410
9509	ADAMTS2	HP:0000347	Micrognathia	HP:0040282	ORPHA:1901
9509	ADAMTS2	HP:0000347	Micrognathia	4/5	OMIM:225410
9509	ADAMTS2	HP:0001622	Premature birth	9/15	OMIM:225410
9509	ADAMTS2	HP:0005332	Recurrent mandibular subluxations	-	OMIM:225410
9509	ADAMTS2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1901
9509	ADAMTS2	HP:0012471	Thick vermilion border	-	OMIM:225410
9509	ADAMTS2	HP:0000494	Downslanted palpebral fissures	4/5	OMIM:225410
9509	ADAMTS2	HP:0001788	Premature rupture of membranes	6/15	OMIM:225410
9509	ADAMTS2	HP:0000506	Telecanthus	2/5	OMIM:225410
9509	ADAMTS2	HP:0001831	Short toe	-	OMIM:225410
9509	ADAMTS2	HP:0000592	Blue sclerae	5/5	OMIM:225410
9509	ADAMTS2	HP:0000545	Myopia	3/4	OMIM:225410
9512	PMPCB	HP:0002421	Poor head control	-	OMIM:617954
9512	PMPCB	HP:0001272	Cerebellar atrophy	3/5	OMIM:617954
9512	PMPCB	HP:0001250	Seizure	4/5	OMIM:617954
9512	PMPCB	HP:0001252	Hypotonia	4/5	OMIM:617954
9512	PMPCB	HP:0001251	Ataxia	1/5	OMIM:617954
9512	PMPCB	HP:0001249	Intellectual disability	-	OMIM:617954
9512	PMPCB	HP:0001263	Global developmental delay	5/5	OMIM:617954
9512	PMPCB	HP:0001257	Spasticity	-	OMIM:617954
9512	PMPCB	HP:0007366	Atrophy/Degeneration affecting the brainstem	1/5	OMIM:617954
9512	PMPCB	HP:0002540	Inability to walk	5/5	OMIM:617954
9512	PMPCB	HP:0001332	Dystonia	2/5	OMIM:617954
9512	PMPCB	HP:0001344	Absent speech	5/5	OMIM:617954
9512	PMPCB	HP:0000007	Autosomal recessive inheritance	-	OMIM:617954
9512	PMPCB	HP:0001310	Dysmetria	1/5	OMIM:617954
9512	PMPCB	HP:0002151	Increased circulating lactate concentration	3/5	OMIM:617954
9512	PMPCB	HP:0003593	Infantile onset	4/5	OMIM:617954
9512	PMPCB	HP:0200134	Epileptic encephalopathy	2/5	OMIM:617954
9512	PMPCB	HP:0011968	Feeding difficulties	-	OMIM:617954
9512	PMPCB	HP:0002376	Developmental regression	5/5	OMIM:617954
9512	PMPCB	HP:0003676	Progressive	-	OMIM:617954
9512	PMPCB	HP:0002352	Leukoencephalopathy	-	OMIM:617954
9512	PMPCB	HP:0000648	Optic atrophy	1/5	OMIM:617954
9512	PMPCB	HP:0011463	Childhood onset	1/5	OMIM:617954
9512	PMPCB	HP:0001508	Failure to thrive	2/5	OMIM:617954
9512	PMPCB	HP:0000365	Hearing impairment	HP:0040284	OMIM:617954
9512	PMPCB	HP:0005484	Secondary microcephaly	2/5	OMIM:617954
9512	PMPCB	HP:0000572	Visual loss	2/5	OMIM:617954
9516	LITAF	HP:0002460	Distal muscle weakness	-	OMIM:601098
9516	LITAF	HP:0007230	Decreased distal sensory nerve action potential	2/2	OMIM:601098
9516	LITAF	HP:0002403	Positive Romberg sign	1/2	OMIM:601098
9516	LITAF	HP:0001271	Polyneuropathy	2/2	OMIM:601098
9516	LITAF	HP:0001251	Ataxia	1/2	OMIM:601098
9516	LITAF	HP:0001265	Hyporeflexia	-	OMIM:601098
9516	LITAF	HP:0000006	Autosomal dominant inheritance	-	OMIM:601098
9516	LITAF	HP:0033748	Hypoesthesia	2/2	OMIM:601098
9516	LITAF	HP:0002066	Gait ataxia	2/2	OMIM:601098
9516	LITAF	HP:0003383	Onion bulb formation	-	OMIM:601098
9516	LITAF	HP:0003382	Hypertrophic nerve changes	-	OMIM:601098
9516	LITAF	HP:0003481	Segmental peripheral demyelination/remyelination	-	OMIM:601098
9516	LITAF	HP:0003431	Decreased motor nerve conduction velocity	2/2	OMIM:601098
9516	LITAF	HP:0003401	Paresthesia	1/2	OMIM:601098
9516	LITAF	HP:0003596	Middle age onset	1/2	OMIM:601098
9516	LITAF	HP:0003693	Distal amyotrophy	-	OMIM:601098
9516	LITAF	HP:0007141	Sensorimotor neuropathy	2/2	OMIM:601098
9516	LITAF	HP:0003621	Juvenile onset	1/2	OMIM:601098
9516	LITAF	HP:0000762	Decreased nerve conduction velocity	2/2	OMIM:601098
9516	LITAF	HP:0002936	Distal sensory impairment	-	OMIM:601098
9516	LITAF	HP:0001761	Pes cavus	1/2	OMIM:601098
9517	SPTLC2	HP:0002460	Distal muscle weakness	4/5	OMIM:613640
9517	SPTLC2	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:36386
9517	SPTLC2	HP:0007328	Impaired pain sensation	2/2	OMIM:613640
9517	SPTLC2	HP:0031060	Impaired ability to dress oneself	HP:0040281	ORPHA:36386
9517	SPTLC2	HP:0007350	Upper limb hyperreflexia	2/2	OMIM:613640
9517	SPTLC2	HP:0002540	Inability to walk	HP:0040283	ORPHA:36386
9517	SPTLC2	HP:0033660	Hand paresthesia	1/2	OMIM:613640
9517	SPTLC2	HP:0007550	Hypohidrosis or hyperhidrosis	HP:0040282	ORPHA:36386
9517	SPTLC2	HP:0007460	Autoamputation of digits	1/5	OMIM:613640
9517	SPTLC2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:36386
9517	SPTLC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613640
9517	SPTLC2	HP:0002600	Hyporeflexia of lower limbs	2/2	OMIM:613640
9517	SPTLC2	HP:0008959	Distal upper limb muscle weakness	2/2	OMIM:613640
9517	SPTLC2	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:36386
9517	SPTLC2	HP:0002754	Osteomyelitis	3/5	OMIM:613640
9517	SPTLC2	HP:0002754	Osteomyelitis	HP:0040283	ORPHA:36386
9517	SPTLC2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:36386
9517	SPTLC2	HP:0003376	Steppage gait	HP:0040282	ORPHA:36386
9517	SPTLC2	HP:0002141	Gait imbalance	HP:0040281	ORPHA:36386
9517	SPTLC2	HP:0003431	Decreased motor nerve conduction velocity	2/2	OMIM:613640
9517	SPTLC2	HP:0003409	Distal sensory impairment of all modalities	1/5	OMIM:613640
9517	SPTLC2	HP:0002166	Impaired vibration sensation in the lower limbs	2/2	OMIM:613640
9517	SPTLC2	HP:0003596	Middle age onset	1/4	OMIM:613640
9517	SPTLC2	HP:0002270	Abnormality of the autonomic nervous system	HP:0040281	ORPHA:36386
9517	SPTLC2	HP:0007021	Pain insensitivity	HP:0040282	ORPHA:36386
9517	SPTLC2	HP:0007002	Motor axonal neuropathy	HP:0040283	ORPHA:36386
9517	SPTLC2	HP:0007078	Decreased amplitude of sensory action potentials	HP:0040281	ORPHA:36386
9517	SPTLC2	HP:0001058	Poor wound healing	HP:0040282	ORPHA:36386
9517	SPTLC2	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:36386
9517	SPTLC2	HP:0001026	Penetrating foot ulcers	HP:0040282	ORPHA:36386
9517	SPTLC2	HP:0010834	Trophic changes related to pain	HP:0040282	ORPHA:36386
9517	SPTLC2	HP:0010829	Impaired temperature sensation	HP:0040282	ORPHA:36386
9517	SPTLC2	HP:0200042	Skin ulcer	4/7	OMIM:613640
9517	SPTLC2	HP:0200042	Skin ulcer	HP:0040282	ORPHA:36386
9517	SPTLC2	HP:0007141	Sensorimotor neuropathy	5/5	OMIM:613640
9517	SPTLC2	HP:0009763	Limb pain	HP:0040282	ORPHA:36386
9517	SPTLC2	HP:0003621	Juvenile onset	2/2	OMIM:613640
9517	SPTLC2	HP:0009053	Distal lower limb muscle weakness	2/2	OMIM:613640
9517	SPTLC2	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:36386
9517	SPTLC2	HP:0006937	Impaired distal tactile sensation	HP:0040282	ORPHA:36386
9517	SPTLC2	HP:0012735	Cough	HP:0040283	ORPHA:36386
9517	SPTLC2	HP:0011463	Childhood onset	1/4	OMIM:613640
9517	SPTLC2	HP:0011462	Young adult onset	2/4	OMIM:613640
9517	SPTLC2	HP:0100287	EMG: slow motor conduction	HP:0040283	ORPHA:36386
9517	SPTLC2	HP:0000970	Anhidrosis	1/5	OMIM:613640
9517	SPTLC2	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:36386
9517	SPTLC2	HP:0002821	Neuropathic arthropathy	HP:0040283	ORPHA:36386
9517	SPTLC2	HP:0002936	Distal sensory impairment	5/5	OMIM:613640
9517	SPTLC2	HP:0002936	Distal sensory impairment	HP:0040281	ORPHA:36386
9517	SPTLC2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:36386
9517	SPTLC2	HP:0012534	Dysesthesia	1/5	OMIM:613640
9518	GDF15	HP:0000006	Autosomal dominant inheritance	-	OMIM:620730
9518	GDF15	HP:0012188	Hyperemesis gravidarum	-	OMIM:620730
9524	TECR	HP:0001249	Intellectual disability	4/4	OMIM:614020
9524	TECR	HP:0000007	Autosomal recessive inheritance	-	OMIM:614020
9524	TECR	HP:0000189	Narrow palate	3/4	OMIM:614020
9524	TECR	HP:0002080	Intention tremor	3/4	OMIM:614020
9524	TECR	HP:0003593	Infantile onset	4/4	OMIM:614020
9524	TECR	HP:0000750	Delayed speech and language development	4/4	OMIM:614020
9526	MPDU1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:79323
9526	MPDU1	HP:0001276	Hypertonia	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0001276	Hypertonia	1/3	OMIM:609180
9526	MPDU1	HP:0001250	Seizure	3/3	OMIM:609180
9526	MPDU1	HP:0001250	Seizure	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0001252	Hypotonia	2/3	OMIM:609180
9526	MPDU1	HP:0001251	Ataxia	-	OMIM:609180
9526	MPDU1	HP:0002521	Hypsarrhythmia	1/3	OMIM:609180
9526	MPDU1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0001371	Flexion contracture	-	OMIM:609180
9526	MPDU1	HP:0001344	Absent speech	-	OMIM:609180
9526	MPDU1	HP:0000007	Autosomal recessive inheritance	-	OMIM:609180
9526	MPDU1	HP:0025474	Erythematous plaque	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0008947	Floppy infant	HP:0040282	ORPHA:79323
9526	MPDU1	HP:0002059	Cerebral atrophy	-	OMIM:609180
9526	MPDU1	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0002119	Ventriculomegaly	1/3	OMIM:609180
9526	MPDU1	HP:0003593	Infantile onset	1/3	OMIM:609180
9526	MPDU1	HP:0011968	Feeding difficulties	1/3	OMIM:609180
9526	MPDU1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0001019	Erythroderma	-	OMIM:609180
9526	MPDU1	HP:0008529	Absence of acoustic reflex	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0003623	Neonatal onset	2/3	OMIM:609180
9526	MPDU1	HP:0003642	Type I transferrin isoform profile	HP:0040281	ORPHA:79323
9526	MPDU1	HP:0000639	Nystagmus	-	OMIM:609180
9526	MPDU1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0000648	Optic atrophy	-	OMIM:609180
9526	MPDU1	HP:0011344	Severe global developmental delay	3/3	OMIM:609180
9526	MPDU1	HP:0000803	Renal cortical cysts	1/3	OMIM:609180
9526	MPDU1	HP:0000803	Renal cortical cysts	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0012704	Widened subarachnoid space	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0003256	Abnormality of the coagulation cascade	HP:0040283	OMIM:609180
9526	MPDU1	HP:0000958	Dry skin	-	OMIM:609180
9526	MPDU1	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0000962	Hyperkeratosis	-	OMIM:609180
9526	MPDU1	HP:0008064	Ichthyosis	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0040189	Scaling skin	-	OMIM:609180
9526	MPDU1	HP:0040189	Scaling skin	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0000260	Wide anterior fontanel	1/3	OMIM:609180
9526	MPDU1	HP:0000260	Wide anterior fontanel	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0000242	Parietal bossing	1/3	OMIM:609180
9526	MPDU1	HP:0000242	Parietal bossing	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0000252	Microcephaly	-	OMIM:609180
9526	MPDU1	HP:0000233	Thin vermilion border	1/3	OMIM:609180
9526	MPDU1	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0001522	Death in infancy	1/3	OMIM:609180
9526	MPDU1	HP:0001508	Failure to thrive	-	OMIM:609180
9526	MPDU1	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:79323
9526	MPDU1	HP:0007965	Undetectable visual evoked potentials	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0000486	Strabismus	-	OMIM:609180
9526	MPDU1	HP:0005478	Prominent frontal sinuses	HP:0040283	ORPHA:79323
9526	MPDU1	HP:0030353	Decreased serum insulin-like growth factor 1	HP:0040283	ORPHA:79323
9529	BAG5	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
9529	BAG5	HP:0033534	Increased circulating brain natriuretic peptide concentration	-	OMIM:619747
9529	BAG5	HP:0000007	Autosomal recessive inheritance	-	OMIM:619747
9529	BAG5	HP:0033755	Increased left ventricular end-diastolic volume	-	OMIM:619747
9529	BAG5	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
9529	BAG5	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
9529	BAG5	HP:0004756	Ventricular tachycardia	-	OMIM:619747
9529	BAG5	HP:0003621	Juvenile onset	-	OMIM:619747
9529	BAG5	HP:0012666	Severely reduced left ventricular ejection fraction	-	OMIM:619747
9529	BAG5	HP:0011462	Young adult onset	-	OMIM:619747
9529	BAG5	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
9529	BAG5	HP:0003198	Myopathy	HP:0040283	ORPHA:154
9529	BAG5	HP:0000969	Edema	HP:0040282	ORPHA:154
9529	BAG5	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
9529	BAG5	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
9529	BAG5	HP:0012378	Fatigue	HP:0040282	ORPHA:154
9529	BAG5	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
9529	BAG5	HP:0001644	Dilated cardiomyopathy	5/5	OMIM:619747
9529	BAG5	HP:0001663	Ventricular fibrillation	-	OMIM:619747
9529	BAG5	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
9529	BAG5	HP:0001635	Congestive heart failure	5/5	OMIM:619747
9529	BAG5	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
9529	BAG5	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
9531	BAG3	HP:0002460	Distal muscle weakness	1/3	OMIM:612954
9531	BAG3	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
9531	BAG3	HP:0003701	Proximal muscle weakness	1/3	OMIM:612954
9531	BAG3	HP:0003700	Generalized amyotrophy	-	OMIM:612954
9531	BAG3	HP:0003715	Myofibrillar myopathy	-	OMIM:612954
9531	BAG3	HP:0001265	Hyporeflexia	-	OMIM:612954
9531	BAG3	HP:0007340	Lower limb muscle weakness	1/3	OMIM:612954
9531	BAG3	HP:0032341	Reduced forced vital capacity	1/3	OMIM:612954
9531	BAG3	HP:0000006	Autosomal dominant inheritance	-	OMIM:612954
9531	BAG3	HP:0000006	Autosomal dominant inheritance	-	OMIM:613881
9531	BAG3	HP:0002650	Scoliosis	1/3	OMIM:612954
9531	BAG3	HP:0033755	Increased left ventricular end-diastolic volume	12/18	OMIM:613881
9531	BAG3	HP:0003327	Axial muscle weakness	1/3	OMIM:612954
9531	BAG3	HP:0003306	Spinal rigidity	2/3	OMIM:612954
9531	BAG3	HP:0003324	Generalized muscle weakness	1/3	OMIM:612954
9531	BAG3	HP:0002093	Respiratory insufficiency	3/3	OMIM:612954
9531	BAG3	HP:0002091	Restrictive ventilatory defect	1/3	OMIM:612954
9531	BAG3	HP:0003388	Easy fatigability	1/3	OMIM:612954
9531	BAG3	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
9531	BAG3	HP:0003447	Axonal loss	-	OMIM:612954
9531	BAG3	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
9531	BAG3	HP:0003458	EMG: myopathic abnormalities	1/1	OMIM:612954
9531	BAG3	HP:0003596	Middle age onset	13/23	OMIM:613881
9531	BAG3	HP:0003584	Late onset	1/23	OMIM:613881
9531	BAG3	HP:0003560	Muscular dystrophy	-	OMIM:612954
9531	BAG3	HP:0010628	Facial palsy	-	OMIM:612954
9531	BAG3	HP:0003691	Scapular winging	1/3	OMIM:612954
9531	BAG3	HP:0003678	Rapidly progressive	-	OMIM:612954
9531	BAG3	HP:0007108	Demyelinating peripheral neuropathy	1/3	OMIM:612954
9531	BAG3	HP:0003621	Juvenile onset	2/3	OMIM:612954
9531	BAG3	HP:0011463	Childhood onset	1/3	OMIM:612954
9531	BAG3	HP:0011462	Young adult onset	9/23	OMIM:613881
9531	BAG3	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
9531	BAG3	HP:0003198	Myopathy	HP:0040283	ORPHA:154
9531	BAG3	HP:0003236	Elevated circulating creatine kinase concentration	3/3	OMIM:612954
9531	BAG3	HP:0000969	Edema	HP:0040282	ORPHA:154
9531	BAG3	HP:0008081	Pes valgus	1/3	OMIM:612954
9531	BAG3	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
9531	BAG3	HP:0006380	Knee flexion contracture	-	OMIM:612954
9531	BAG3	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
9531	BAG3	HP:0030051	Tip-toe gait	1/3	OMIM:612954
9531	BAG3	HP:0012378	Fatigue	HP:0040282	ORPHA:154
9531	BAG3	HP:0006597	Diaphragmatic paralysis	1/3	OMIM:612954
9531	BAG3	HP:0002936	Distal sensory impairment	-	OMIM:612954
9531	BAG3	HP:0002943	Thoracic scoliosis	1/3	OMIM:612954
9531	BAG3	HP:0001611	Hypernasal speech	1/3	OMIM:612954
9531	BAG3	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
9531	BAG3	HP:0001644	Dilated cardiomyopathy	18/22	OMIM:613881
9531	BAG3	HP:0001653	Mitral regurgitation	1/3	OMIM:612954
9531	BAG3	HP:0001639	Hypertrophic cardiomyopathy	1/3	OMIM:612954
9531	BAG3	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
9531	BAG3	HP:0001635	Congestive heart failure	10/23	OMIM:613881
9531	BAG3	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
9531	BAG3	HP:0001723	Restrictive cardiomyopathy	2/3	OMIM:612954
9531	BAG3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
9531	BAG3	HP:0001761	Pes cavus	-	OMIM:612954
9533	POLR1C	HP:0008551	Microtia	3/3	OMIM:248390
9533	POLR1C	HP:0008551	Microtia	HP:0040282	ORPHA:861
9533	POLR1C	HP:0002415	Leukodystrophy	-	OMIM:616494
9533	POLR1C	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9533	POLR1C	HP:0001293	Cranial nerve compression	-	OMIM:131300
9533	POLR1C	HP:0001272	Cerebellar atrophy	5/8	OMIM:616494
9533	POLR1C	HP:0001252	Hypotonia	2/7	OMIM:615777
9533	POLR1C	HP:0001251	Ataxia	8/8	OMIM:616494
9533	POLR1C	HP:0001251	Ataxia	HP:0040281	ORPHA:88637
9533	POLR1C	HP:0001249	Intellectual disability	6/8	OMIM:616494
9533	POLR1C	HP:0001249	Intellectual disability	5/7	OMIM:615777
9533	POLR1C	HP:0001263	Global developmental delay	7/8	OMIM:616494
9533	POLR1C	HP:0001263	Global developmental delay	HP:0040283	ORPHA:861
9533	POLR1C	HP:0001263	Global developmental delay	-	OMIM:615777
9533	POLR1C	HP:0001257	Spasticity	6/8	OMIM:616494
9533	POLR1C	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:861
9533	POLR1C	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:861
9533	POLR1C	HP:0002515	Waddling gait	54/102	OMIM:131300
9533	POLR1C	HP:0000046	Small scrotum	HP:0040283	ORPHA:861
9533	POLR1C	HP:0001382	Joint hypermobility	-	OMIM:615777
9533	POLR1C	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9533	POLR1C	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:861
9533	POLR1C	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9533	POLR1C	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:861
9533	POLR1C	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9533	POLR1C	HP:0001324	Muscle weakness	40/96	OMIM:131300
9533	POLR1C	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9533	POLR1C	HP:0000007	Autosomal recessive inheritance	-	OMIM:616494
9533	POLR1C	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9533	POLR1C	HP:0000007	Autosomal recessive inheritance	-	OMIM:248390
9533	POLR1C	HP:0001337	Tremor	8/8	OMIM:616494
9533	POLR1C	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9533	POLR1C	HP:0001336	Myoclonus	1/8	OMIM:616494
9533	POLR1C	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:861
9533	POLR1C	HP:0002650	Scoliosis	12/14	OMIM:131300
9533	POLR1C	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9533	POLR1C	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9533	POLR1C	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9533	POLR1C	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9533	POLR1C	HP:0000164	Abnormality of the dentition	3/8	OMIM:616494
9533	POLR1C	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:861
9533	POLR1C	HP:0000160	Narrow mouth	HP:0040283	ORPHA:861
9533	POLR1C	HP:0000162	Glossoptosis	HP:0040283	ORPHA:861
9533	POLR1C	HP:0000175	Cleft palate	1/2	OMIM:248390
9533	POLR1C	HP:0000175	Cleft palate	HP:0040283	ORPHA:861
9533	POLR1C	HP:0000175	Cleft palate	2/7	OMIM:615777
9533	POLR1C	HP:0000143	Rectovaginal fistula	HP:0040283	ORPHA:861
9533	POLR1C	HP:0000154	Wide mouth	HP:0040283	ORPHA:861
9533	POLR1C	HP:0005990	Thyroid hypoplasia	HP:0040283	ORPHA:861
9533	POLR1C	HP:0002007	Frontal bossing	HP:0040282	ORPHA:861
9533	POLR1C	HP:0002006	Tessier cleft	HP:0040283	ORPHA:861
9533	POLR1C	HP:0011800	Midface retrusion	HP:0040281	ORPHA:861
9533	POLR1C	HP:0002084	Encephalocele	HP:0040283	ORPHA:861
9533	POLR1C	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:861
9533	POLR1C	HP:0002079	Hypoplasia of the corpus callosum	8/8	OMIM:616494
9533	POLR1C	HP:0003388	Easy fatigability	36/76	OMIM:131300
9533	POLR1C	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9533	POLR1C	HP:0003429	CNS hypomyelination	8/8	OMIM:616494
9533	POLR1C	HP:0003429	CNS hypomyelination	HP:0040281	ORPHA:88637
9533	POLR1C	HP:0009554	Preauricular hair displacement	HP:0040283	ORPHA:861
9533	POLR1C	HP:0003593	Infantile onset	4/8	OMIM:616494
9533	POLR1C	HP:0003577	Congenital onset	3/3	OMIM:248390
9533	POLR1C	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040281	ORPHA:861
9533	POLR1C	HP:0010669	Hypoplasia of the zygomatic bone	3/3	OMIM:248390
9533	POLR1C	HP:0003510	Severe short stature	7/7	OMIM:615777
9533	POLR1C	HP:0002381	Aphasia	HP:0040283	ORPHA:861
9533	POLR1C	HP:0002315	Headache	-	OMIM:131300
9533	POLR1C	HP:0004976	Knee dislocation	6/7	OMIM:615777
9533	POLR1C	HP:0010807	Open bite	HP:0040281	ORPHA:861
9533	POLR1C	HP:0009804	Tooth agenesis	HP:0040282	ORPHA:861
9533	POLR1C	HP:0009803	Short phalanx of finger	-	OMIM:615777
9533	POLR1C	HP:0009795	Branchial fistula	HP:0040283	ORPHA:861
9533	POLR1C	HP:0009763	Limb pain	63/92	OMIM:131300
9533	POLR1C	HP:0003621	Juvenile onset	-	OMIM:131300
9533	POLR1C	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9533	POLR1C	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9533	POLR1C	HP:6001056	Out-toeing	-	OMIM:131300
9533	POLR1C	HP:0000651	Diplopia	-	OMIM:131300
9533	POLR1C	HP:0000643	Blepharospasm	HP:0040283	ORPHA:861
9533	POLR1C	HP:0000612	Iris coloboma	HP:0040282	ORPHA:861
9533	POLR1C	HP:0000625	Eyelid coloboma	HP:0040282	ORPHA:861
9533	POLR1C	HP:0001956	Truncal obesity	2/7	OMIM:615777
9533	POLR1C	HP:0001903	Anemia	HP:0040283	OMIM:131300
9533	POLR1C	HP:0010049	Short metacarpal	-	OMIM:615777
9533	POLR1C	HP:0011386	Narrow internal auditory canal	HP:0040282	ORPHA:861
9533	POLR1C	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:861
9533	POLR1C	HP:0000678	Dental crowding	-	OMIM:615777
9533	POLR1C	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:861
9533	POLR1C	HP:0000652	Lower eyelid coloboma	2/3	OMIM:248390
9533	POLR1C	HP:0000670	Carious teeth	-	OMIM:131300
9533	POLR1C	HP:0011304	Broad thumb	2/7	OMIM:615777
9533	POLR1C	HP:0000668	Hypodontia	HP:0040281	ORPHA:88637
9533	POLR1C	HP:0000668	Hypodontia	-	OMIM:615777
9533	POLR1C	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:861
9533	POLR1C	HP:0000664	Synophrys	-	OMIM:615777
9533	POLR1C	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:861
9533	POLR1C	HP:0004396	Poor appetite	-	OMIM:131300
9533	POLR1C	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9533	POLR1C	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9533	POLR1C	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9533	POLR1C	HP:0003026	Short long bone	7/7	OMIM:615777
9533	POLR1C	HP:0031936	Delayed ability to walk	5/8	OMIM:616494
9533	POLR1C	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9533	POLR1C	HP:0004348	Abnormality of bone mineral density	HP:0040281	ORPHA:861
9533	POLR1C	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9533	POLR1C	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9533	POLR1C	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9533	POLR1C	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:861
9533	POLR1C	HP:0000750	Delayed speech and language development	-	OMIM:615777
9533	POLR1C	HP:0011481	Abnormal lacrimal duct morphology	HP:0040283	ORPHA:861
9533	POLR1C	HP:0011463	Childhood onset	4/8	OMIM:616494
9533	POLR1C	HP:0011461	Fetal onset	7/7	OMIM:615777
9533	POLR1C	HP:0000778	Hypoplasia of the thymus	HP:0040283	ORPHA:861
9533	POLR1C	HP:0000774	Narrow chest	2/7	OMIM:615777
9533	POLR1C	HP:0005701	Multiple enchondromatosis	HP:0040283	ORPHA:861
9533	POLR1C	HP:0000925	Abnormality of the vertebral column	HP:0040283	ORPHA:861
9533	POLR1C	HP:0000926	Platyspondyly	1/7	OMIM:615777
9533	POLR1C	HP:0003180	Flat acetabular roof	-	OMIM:615777
9533	POLR1C	HP:0004482	Relative macrocephaly	-	OMIM:615777
9533	POLR1C	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9533	POLR1C	HP:0000834	Abnormality of the adrenal glands	HP:0040283	ORPHA:861
9533	POLR1C	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:88637
9533	POLR1C	HP:0000823	Delayed puberty	-	OMIM:131300
9533	POLR1C	HP:0000894	Short clavicles	-	OMIM:615777
9533	POLR1C	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9533	POLR1C	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9533	POLR1C	HP:0000286	Epicanthus	1/7	OMIM:615777
9533	POLR1C	HP:0000280	Coarse facial features	2/7	OMIM:615777
9533	POLR1C	HP:0000278	Retrognathia	HP:0040281	ORPHA:861
9533	POLR1C	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:861
9533	POLR1C	HP:0000272	Malar flattening	3/3	OMIM:248390
9533	POLR1C	HP:0000272	Malar flattening	HP:0040281	ORPHA:861
9533	POLR1C	HP:0002827	Hip dislocation	3/7	OMIM:615777
9533	POLR1C	HP:0000252	Microcephaly	-	OMIM:615777
9533	POLR1C	HP:0000248	Brachycephaly	HP:0040283	ORPHA:861
9533	POLR1C	HP:0000218	High palate	HP:0040283	ORPHA:861
9533	POLR1C	HP:0002857	Genu valgum	-	OMIM:131300
9533	POLR1C	HP:0001533	Slender build	-	OMIM:131300
9533	POLR1C	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:861
9533	POLR1C	HP:0001508	Failure to thrive	1/8	OMIM:616494
9533	POLR1C	HP:0001508	Failure to thrive	HP:0040283	ORPHA:861
9533	POLR1C	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9533	POLR1C	HP:0007807	Optic nerve compression	-	OMIM:131300
9533	POLR1C	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:861
9533	POLR1C	HP:0012368	Flat face	7/7	OMIM:615777
9533	POLR1C	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9533	POLR1C	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:861
9533	POLR1C	HP:0000365	Hearing impairment	10/67	OMIM:131300
9533	POLR1C	HP:0000356	Abnormality of the outer ear	HP:0040282	ORPHA:861
9533	POLR1C	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:861
9533	POLR1C	HP:0000370	Abnormality of the middle ear	HP:0040282	ORPHA:861
9533	POLR1C	HP:0000343	Long philtrum	1/7	OMIM:615777
9533	POLR1C	HP:0011001	Increased bone mineral density	-	OMIM:131300
9533	POLR1C	HP:0000347	Micrognathia	3/3	OMIM:248390
9533	POLR1C	HP:0000347	Micrognathia	HP:0040281	ORPHA:861
9533	POLR1C	HP:0000316	Hypertelorism	HP:0040283	ORPHA:861
9533	POLR1C	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:861
9533	POLR1C	HP:0000311	Round face	2/7	OMIM:615777
9533	POLR1C	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:861
9533	POLR1C	HP:0002970	Genu varum	-	OMIM:615777
9533	POLR1C	HP:0000303	Mandibular prognathia	-	OMIM:131300
9533	POLR1C	HP:0005321	Mandibulofacial dysostosis	-	OMIM:248390
9533	POLR1C	HP:0000405	Conductive hearing impairment	3/3	OMIM:248390
9533	POLR1C	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:861
9533	POLR1C	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9533	POLR1C	HP:0000486	Strabismus	HP:0040282	ORPHA:861
9533	POLR1C	HP:0000494	Downslanted palpebral fissures	2/3	OMIM:248390
9533	POLR1C	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:861
9533	POLR1C	HP:0000470	Short neck	1/7	OMIM:615777
9533	POLR1C	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9533	POLR1C	HP:0001763	Pes planus	1/7	OMIM:615777
9533	POLR1C	HP:0000453	Choanal atresia	HP:0040283	ORPHA:861
9533	POLR1C	HP:0000413	Atresia of the external auditory canal	HP:0040282	ORPHA:861
9533	POLR1C	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:861
9533	POLR1C	HP:0000518	Cataract	HP:0040283	ORPHA:861
9533	POLR1C	HP:0001840	Metatarsus adductus	-	OMIM:615777
9533	POLR1C	HP:0000520	Proptosis	2/4	OMIM:131300
9533	POLR1C	HP:0000520	Proptosis	7/7	OMIM:615777
9533	POLR1C	HP:0000505	Visual impairment	HP:0040282	ORPHA:861
9533	POLR1C	HP:0000592	Blue sclerae	2/7	OMIM:615777
9533	POLR1C	HP:0000561	Absent eyelashes	HP:0040282	ORPHA:861
9533	POLR1C	HP:0011219	Short face	HP:0040281	ORPHA:861
9533	POLR1C	HP:0000568	Microphthalmia	HP:0040283	ORPHA:861
9533	POLR1C	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9533	POLR1C	HP:0012514	Lower limb pain	4/4	OMIM:131300
9533	POLR1C	HP:0000545	Myopia	3/8	OMIM:616494
9555	MACROH2A1	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1275
9555	MACROH2A1	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1275
9555	MACROH2A1	HP:0031095	Abnormal humerus morphology	HP:0040281	ORPHA:1275
9555	MACROH2A1	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1275
9555	MACROH2A1	HP:0009832	Abnormal distal phalanx morphology of finger	HP:0040281	ORPHA:1275
9555	MACROH2A1	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:1275
9555	MACROH2A1	HP:0003042	Elbow dislocation	HP:0040281	ORPHA:1275
9555	MACROH2A1	HP:0040071	Abnormal morphology of ulna	HP:0040281	ORPHA:1275
9555	MACROH2A1	HP:0000256	Macrocephaly	HP:0040281	ORPHA:1275
9555	MACROH2A1	HP:0005048	Synostosis of carpal bones	HP:0040281	ORPHA:1275
9555	MACROH2A1	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:1275
9562	MINPP1	HP:0010862	Delayed fine motor development	8/8	OMIM:619527
9562	MINPP1	HP:0001276	Hypertonia	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0001250	Seizure	7/8	OMIM:619527
9562	MINPP1	HP:0001250	Seizure	HP:0040283	ORPHA:284339
9562	MINPP1	HP:0001252	Hypotonia	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0001257	Spasticity	HP:0040283	ORPHA:284339
9562	MINPP1	HP:0008665	Clitoral hypertrophy	HP:0040283	ORPHA:284339
9562	MINPP1	HP:0002510	Spastic tetraplegia	8/8	OMIM:619527
9562	MINPP1	HP:0002509	Limb hypertonia	8/8	OMIM:619527
9562	MINPP1	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0000054	Micropenis	HP:0040283	ORPHA:284339
9562	MINPP1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:284339
9562	MINPP1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0033725	Thin corpus callosum	8/14	OMIM:619527
9562	MINPP1	HP:0000010	Recurrent urinary tract infections	1/7	OMIM:619527
9562	MINPP1	HP:0001344	Absent speech	8/8	OMIM:619527
9562	MINPP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619527
9562	MINPP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:188470
9562	MINPP1	HP:0001336	Myoclonus	HP:0040283	ORPHA:284339
9562	MINPP1	HP:0002653	Bone pain	HP:0040283	ORPHA:319487
9562	MINPP1	HP:0002650	Scoliosis	7/8	OMIM:619527
9562	MINPP1	HP:0001321	Cerebellar hypoplasia	8/8	OMIM:619527
9562	MINPP1	HP:0000151	Aplasia of the uterus	HP:0040283	ORPHA:284339
9562	MINPP1	HP:0008936	Axial hypotonia	8/8	OMIM:619527
9562	MINPP1	HP:0012110	Hypoplasia of the pons	1/8	OMIM:619527
9562	MINPP1	HP:0000133	Gonadal dysgenesis	HP:0040283	ORPHA:284339
9562	MINPP1	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:319487
9562	MINPP1	HP:0001442	Typified by somatic mosaicism	-	OMIM:188470
9562	MINPP1	HP:0002733	Abnormal lymph node morphology	HP:0040282	ORPHA:319487
9562	MINPP1	HP:0002730	Chronic noninfectious lymphadenopathy	HP:0040282	ORPHA:319487
9562	MINPP1	HP:0005994	Nodular goiter	HP:0040281	ORPHA:319487
9562	MINPP1	HP:0002015	Dysphagia	8/8	OMIM:619527
9562	MINPP1	HP:0002060	Abnormal cerebral morphology	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0002071	Abnormality of extrapyramidal motor function	7/8	OMIM:619527
9562	MINPP1	HP:0002120	Cerebral cortical atrophy	7/8	OMIM:619527
9562	MINPP1	HP:0002119	Ventriculomegaly	8/8	OMIM:619527
9562	MINPP1	HP:0002104	Apnea	1/8	OMIM:619527
9562	MINPP1	HP:0002194	Delayed gross motor development	8/8	OMIM:619527
9562	MINPP1	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:319487
9562	MINPP1	HP:0002380	Fasciculations	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0002365	Hypoplasia of the brainstem	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0003623	Neonatal onset	7/8	OMIM:619527
9562	MINPP1	HP:0000639	Nystagmus	HP:0040283	ORPHA:284339
9562	MINPP1	HP:0000639	Nystagmus	8/8	OMIM:619527
9562	MINPP1	HP:0000648	Optic atrophy	4/8	OMIM:619527
9562	MINPP1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:284339
9562	MINPP1	HP:0003003	Colon cancer	HP:0040283	ORPHA:319487
9562	MINPP1	HP:0006955	Olivopontocerebellar hypoplasia	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0004305	Involuntary movements	HP:0040283	ORPHA:284339
9562	MINPP1	HP:0030674	Antenatal onset	1/8	OMIM:619527
9562	MINPP1	HP:0012856	Abnormal scrotal rugation	HP:0040283	ORPHA:284339
9562	MINPP1	HP:0000853	Goiter	HP:0040282	ORPHA:319487
9562	MINPP1	HP:0003202	Skeletal muscle atrophy	7/8	OMIM:619527
9562	MINPP1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0040198	Non-medullary thyroid carcinoma	-	OMIM:188470
9562	MINPP1	HP:0012288	Neoplasm of head and neck	HP:0040281	ORPHA:319487
9562	MINPP1	HP:0000286	Epicanthus	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0000252	Microcephaly	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0000218	High palate	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0000215	Thick upper lip vermilion	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0002895	Papillary thyroid carcinoma	-	OMIM:188470
9562	MINPP1	HP:0002895	Papillary thyroid carcinoma	HP:0040283	ORPHA:319487
9562	MINPP1	HP:0006528	Chronic lung disease	HP:0040283	ORPHA:319487
9562	MINPP1	HP:0030197	Fatigable weakness of skeletal muscles	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0000369	Low-set ears	2/8	OMIM:619527
9562	MINPP1	HP:0000347	Micrognathia	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0000400	Macrotia	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:284339
9562	MINPP1	HP:0030261	Absent penis	HP:0040283	ORPHA:284339
9562	MINPP1	HP:0030260	Microphallus	HP:0040283	ORPHA:284339
9562	MINPP1	HP:0000448	Prominent nose	2/8	OMIM:619527
9562	MINPP1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:284339
9562	MINPP1	HP:0006731	Follicular thyroid carcinoma	HP:0040281	ORPHA:319487
9562	MINPP1	HP:0006731	Follicular thyroid carcinoma	-	OMIM:188470
9562	MINPP1	HP:3000037	Abnormal neck blood vessel morphology	HP:0040281	ORPHA:319487
9562	MINPP1	HP:0006766	Papillary renal cell carcinoma	HP:0040283	ORPHA:319487
9562	MINPP1	HP:0000518	Cataract	4/8	OMIM:619527
9562	MINPP1	HP:0000508	Ptosis	4/8	OMIM:619527
9562	MINPP1	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:284339
9562	MINPP1	HP:0012531	Pain	HP:0040283	ORPHA:319487
9563	H6PD	HP:0000007	Autosomal recessive inheritance	-	OMIM:604931
9563	H6PD	HP:0003596	Middle age onset	1/4	OMIM:604931
9563	H6PD	HP:0003581	Adult onset	1/4	OMIM:604931
9563	H6PD	HP:0001061	Acne	1/4	OMIM:604931
9563	H6PD	HP:0001007	Hirsutism	3/4	OMIM:604931
9563	H6PD	HP:0003621	Juvenile onset	1/4	OMIM:604931
9563	H6PD	HP:0000789	Infertility	2/3	OMIM:604931
9563	H6PD	HP:0000876	Oligomenorrhea	1/3	OMIM:604931
9563	H6PD	HP:0000826	Precocious puberty	1/4	OMIM:604931
9563	H6PD	HP:0001596	Alopecia	1/4	OMIM:604931
9563	H6PD	HP:0001513	Obesity	-	OMIM:604931
9563	H6PD	HP:0025710	Late young adult onset	1/4	OMIM:604931
9568	GABBR2	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:3095
9568	GABBR2	HP:0007281	Developmental stagnation	HP:0040283	ORPHA:3095
9568	GABBR2	HP:0007281	Developmental stagnation	1/1	OMIM:617903
9568	GABBR2	HP:0010864	Intellectual disability, severe	1/1	OMIM:617903
9568	GABBR2	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0002421	Poor head control	1/2	OMIM:617904
9568	GABBR2	HP:0003763	Bruxism	1/1	OMIM:617903
9568	GABBR2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
9568	GABBR2	HP:0025269	Panic attack	HP:0040283	ORPHA:3095
9568	GABBR2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
9568	GABBR2	HP:0001290	Generalized hypotonia	1/2	OMIM:617904
9568	GABBR2	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:3095
9568	GABBR2	HP:0001288	Gait disturbance	-	OMIM:617903
9568	GABBR2	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:3095
9568	GABBR2	HP:0001250	Seizure	HP:0040282	ORPHA:442835
9568	GABBR2	HP:0001250	Seizure	HP:0040281	ORPHA:3095
9568	GABBR2	HP:0001250	Seizure	0/1	OMIM:617903
9568	GABBR2	HP:0001252	Hypotonia	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0001251	Ataxia	1/2	OMIM:617904
9568	GABBR2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
9568	GABBR2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3095
9568	GABBR2	HP:0001249	Intellectual disability	-	OMIM:617903
9568	GABBR2	HP:0001249	Intellectual disability	2/2	OMIM:617904
9568	GABBR2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
9568	GABBR2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
9568	GABBR2	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0001257	Spasticity	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0002540	Inability to walk	2/2	OMIM:617904
9568	GABBR2	HP:0002540	Inability to walk	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0002521	Hypsarrhythmia	1/2	OMIM:617904
9568	GABBR2	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
9568	GABBR2	HP:0002505	Loss of ambulation	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0003808	Abnormal muscle tone	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0025387	Pill-rolling tremor	HP:0040283	ORPHA:3095
9568	GABBR2	HP:0001332	Dystonia	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0001332	Dystonia	-	OMIM:617903
9568	GABBR2	HP:0001344	Absent speech	1/1	OMIM:617903
9568	GABBR2	HP:0001344	Absent speech	2/2	OMIM:617904
9568	GABBR2	HP:0001337	Tremor	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0001337	Tremor	HP:0040283	ORPHA:3095
9568	GABBR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617903
9568	GABBR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617904
9568	GABBR2	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0002650	Scoliosis	HP:0040283	ORPHA:3095
9568	GABBR2	HP:0002650	Scoliosis	-	OMIM:617904
9568	GABBR2	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:3095
9568	GABBR2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0012171	Stereotypical hand wringing	HP:0040281	ORPHA:3095
9568	GABBR2	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:3095
9568	GABBR2	HP:0032588	Hand apraxia	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:617904
9568	GABBR2	HP:0002066	Gait ataxia	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:3095
9568	GABBR2	HP:0002119	Ventriculomegaly	-	OMIM:617903
9568	GABBR2	HP:0002119	Ventriculomegaly	-	OMIM:617904
9568	GABBR2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
9568	GABBR2	HP:0002104	Apnea	-	OMIM:617903
9568	GABBR2	HP:0002186	Apraxia	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:3095
9568	GABBR2	HP:0002266	Focal clonic seizure	1/2	OMIM:617904
9568	GABBR2	HP:0003593	Infantile onset	1/1	OMIM:617903
9568	GABBR2	HP:0003593	Infantile onset	2/2	OMIM:617904
9568	GABBR2	HP:0100703	Tongue thrusting	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0100716	Self-injurious behavior	1/2	OMIM:617904
9568	GABBR2	HP:0200134	Epileptic encephalopathy	2/2	OMIM:617904
9568	GABBR2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:3095
9568	GABBR2	HP:0002384	Focal impaired awareness seizure	1/2	OMIM:617904
9568	GABBR2	HP:0002360	Sleep abnormality	1/2	OMIM:617904
9568	GABBR2	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:3095
9568	GABBR2	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
9568	GABBR2	HP:0002376	Developmental regression	1/1	OMIM:617903
9568	GABBR2	HP:0002376	Developmental regression	HP:0040281	ORPHA:3095
9568	GABBR2	HP:0002371	Loss of speech	HP:0040281	ORPHA:3095
9568	GABBR2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:3095
9568	GABBR2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0010841	Multifocal epileptiform discharges	1/2	OMIM:617904
9568	GABBR2	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
9568	GABBR2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0200055	Small hand	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0200055	Small hand	-	OMIM:617903
9568	GABBR2	HP:0002300	Mutism	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0002307	Drooling	-	OMIM:617904
9568	GABBR2	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
9568	GABBR2	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0004322	Short stature	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0006979	Sleep-wake cycle disturbance	1/1	OMIM:617903
9568	GABBR2	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:3095
9568	GABBR2	HP:0004305	Involuntary movements	HP:0040281	ORPHA:3095
9568	GABBR2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:3095
9568	GABBR2	HP:0100023	Recurrent hand flapping	1/1	OMIM:617903
9568	GABBR2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
9568	GABBR2	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0000748	Inappropriate laughter	HP:0040283	ORPHA:3095
9568	GABBR2	HP:0000717	Autism	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0000713	Agitation	HP:0040281	ORPHA:3095
9568	GABBR2	HP:0000713	Agitation	-	OMIM:617903
9568	GABBR2	HP:0000729	Autistic behavior	HP:0040281	ORPHA:3095
9568	GABBR2	HP:0000729	Autistic behavior	1/1	OMIM:617903
9568	GABBR2	HP:0000723	Restrictive behavior	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
9568	GABBR2	HP:0012760	Reduced social responsiveness	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:3095
9568	GABBR2	HP:0045084	Limb myoclonus	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0000256	Macrocephaly	-	OMIM:617903
9568	GABBR2	HP:0002808	Kyphosis	HP:0040283	ORPHA:3095
9568	GABBR2	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0000252	Microcephaly	-	OMIM:617903
9568	GABBR2	HP:0002883	Hyperventilation	1/1	OMIM:617903
9568	GABBR2	HP:0002882	Sudden episodic apnea	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0002876	Episodic tachypnea	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
9568	GABBR2	HP:0001510	Growth delay	HP:0040283	ORPHA:3095
9568	GABBR2	HP:0007824	Total ophthalmoplegia	-	ORPHA:3095
9568	GABBR2	HP:0032807	Neonatal seizure	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0012332	Abnormal autonomic nervous system physiology	-	OMIM:617903
9568	GABBR2	HP:0032792	Tonic seizure	1/2	OMIM:617904
9568	GABBR2	HP:0000348	High forehead	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0030215	Inappropriate crying	HP:0040283	ORPHA:3095
9568	GABBR2	HP:0030215	Inappropriate crying	1/1	OMIM:617903
9568	GABBR2	HP:0012469	Infantile spasms	HP:0040283	ORPHA:3095
9568	GABBR2	HP:0012469	Infantile spasms	2/2	OMIM:617904
9568	GABBR2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0001773	Short foot	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0001773	Short foot	1/1	OMIM:617903
9568	GABBR2	HP:0005484	Secondary microcephaly	HP:0040282	ORPHA:3095
9568	GABBR2	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
9568	GABBR2	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
9568	GABBR2	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
9568	GABBR2	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
9569	GTF2IRD1	HP:0001181	Adducted thumb	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001297	Stroke	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0001252	Hypotonia	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0001251	Ataxia	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0001260	Dysarthria	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001257	Spasticity	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000093	Proteinuria	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000075	Renal duplication	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001387	Joint stiffness	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000014	Abnormality of the bladder	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0001361	Nystagmus-induced head nodding	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000025	Functional abnormality of male internal genitalia	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001337	Tremor	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0001310	Dysmetria	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0002650	Scoliosis	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0002623	Overriding aorta	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0000158	Macroglossia	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0000154	Wide mouth	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000125	Pelvic kidney	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0002024	Malabsorption	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0002019	Constipation	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0002027	Abdominal pain	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0100539	Periorbital edema	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0002141	Gait imbalance	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0002183	Phonophobia	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0010526	Dysgraphia	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0002253	Colonic diverticula	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0100785	Insomnia	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0002376	Developmental regression	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0010807	Open bite	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0008499	High hypermetropia	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0010780	Hyperacusis	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0002308	Chiari malformation	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0004295	Abnormal gastric mucosa morphology	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000635	Blue irides	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000691	Microdontia	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000670	Carious teeth	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0000668	Hypodontia	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0004322	Short stature	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0004305	Involuntary movements	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0004381	Supravalvular aortic stenosis	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0100025	Overfriendliness	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000739	Anxiety	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0000716	Depression	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0000717	Autism	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0004428	Elfin facies	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0003198	Myopathy	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0003196	Short nose	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0000826	Precocious puberty	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000822	Hypertension	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000960	Sacral dimple	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000938	Osteopenia	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0007720	Flat cornea	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000286	Epicanthus	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0000280	Coarse facial features	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0000275	Narrow face	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0002829	Arthralgia	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0002808	Kyphosis	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000252	Microcephaly	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0001582	Redundant skin	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0002857	Genu valgum	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001513	Obesity	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0001609	Hoarse voice	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0001618	Dysphonia	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000343	Long philtrum	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000337	Broad forehead	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000348	High forehead	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0000347	Micrognathia	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000307	Pointed chin	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0007957	Corneal opacity	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000400	Macrotia	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0000486	Strabismus	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000485	Megalocornea	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0000464	Abnormality of the neck	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0001763	Pes planus	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000411	Protruding ear	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0000518	Cataract	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001822	Hallux valgus	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000505	Visual impairment	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000501	Glaucoma	HP:0040283	ORPHA:904
9569	GTF2IRD1	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:904
9569	GTF2IRD1	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:904
9569	GTF2IRD1	HP:0000545	Myopia	HP:0040283	ORPHA:904
9570	GOSR2	HP:0025116	Fetal distress	1/1	OMIM:620166
9570	GOSR2	HP:0010850	EEG with spike-wave complexes	4/6	OMIM:614018
9570	GOSR2	HP:0003701	Proximal muscle weakness	1/2	OMIM:620166
9570	GOSR2	HP:0001268	Mental deterioration	1/2	OMIM:620166
9570	GOSR2	HP:0001288	Gait disturbance	-	OMIM:614018
9570	GOSR2	HP:0001284	Areflexia	2/4	OMIM:620166
9570	GOSR2	HP:0001284	Areflexia	6/6	OMIM:614018
9570	GOSR2	HP:0001252	Hypotonia	3/3	OMIM:620166
9570	GOSR2	HP:0001251	Ataxia	1/2	OMIM:620166
9570	GOSR2	HP:0001251	Ataxia	6/6	OMIM:614018
9570	GOSR2	HP:0001260	Dysarthria	1/2	OMIM:620166
9570	GOSR2	HP:0001260	Dysarthria	-	OMIM:614018
9570	GOSR2	HP:0007359	Focal-onset seizure	1/2	OMIM:620166
9570	GOSR2	HP:0002505	Loss of ambulation	1/2	OMIM:620166
9570	GOSR2	HP:0002505	Loss of ambulation	6/6	OMIM:614018
9570	GOSR2	HP:0001324	Muscle weakness	1/2	OMIM:620166
9570	GOSR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620166
9570	GOSR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614018
9570	GOSR2	HP:0001337	Tremor	2/6	OMIM:614018
9570	GOSR2	HP:0001336	Myoclonus	6/6	OMIM:614018
9570	GOSR2	HP:0002650	Scoliosis	6/6	OMIM:614018
9570	GOSR2	HP:0008936	Axial hypotonia	1/1	OMIM:620166
9570	GOSR2	HP:0002027	Abdominal pain	1/2	OMIM:620166
9570	GOSR2	HP:0002015	Dysphagia	1/2	OMIM:620166
9570	GOSR2	HP:0003323	Progressive muscle weakness	1/2	OMIM:620166
9570	GOSR2	HP:0002098	Respiratory distress	1/1	OMIM:620166
9570	GOSR2	HP:0002069	Bilateral tonic-clonic seizure	3/6	OMIM:614018
9570	GOSR2	HP:0002058	Myopathic facies	1/2	OMIM:620166
9570	GOSR2	HP:0002121	Generalized non-motor (absence) seizure	1/2	OMIM:620166
9570	GOSR2	HP:0002121	Generalized non-motor (absence) seizure	3/6	OMIM:614018
9570	GOSR2	HP:0002119	Ventriculomegaly	1/2	OMIM:620166
9570	GOSR2	HP:0002197	Generalized-onset seizure	1/2	OMIM:620166
9570	GOSR2	HP:0002168	Scanning speech	1/2	OMIM:620166
9570	GOSR2	HP:0003593	Infantile onset	2/2	OMIM:620166
9570	GOSR2	HP:0003577	Congenital onset	1/1	OMIM:620166
9570	GOSR2	HP:0011968	Feeding difficulties	1/1	OMIM:620166
9570	GOSR2	HP:0002359	Frequent falls	1/2	OMIM:620166
9570	GOSR2	HP:0003676	Progressive	-	OMIM:614018
9570	GOSR2	HP:0002354	Memory impairment	2/6	OMIM:614018
9570	GOSR2	HP:0100651	Type I diabetes mellitus	1/2	OMIM:620166
9570	GOSR2	HP:0010819	Atonic seizure	3/6	OMIM:614018
9570	GOSR2	HP:0000639	Nystagmus	3/3	OMIM:620166
9570	GOSR2	HP:0012736	Profound global developmental delay	1/1	OMIM:620166
9570	GOSR2	HP:0011463	Childhood onset	1/2	OMIM:620166
9570	GOSR2	HP:0011463	Childhood onset	6/6	OMIM:614018
9570	GOSR2	HP:0003236	Elevated circulating creatine kinase concentration	3/3	OMIM:620166
9570	GOSR2	HP:0003236	Elevated circulating creatine kinase concentration	6/6	OMIM:614018
9570	GOSR2	HP:0002878	Respiratory failure	1/2	OMIM:620166
9570	GOSR2	HP:0032667	Myoclonic status epilepticus	1/6	OMIM:614018
9570	GOSR2	HP:0001558	Decreased fetal movement	1/1	OMIM:620166
9570	GOSR2	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1/1	OMIM:620166
9570	GOSR2	HP:0012389	Appendicular hypotonia	1/1	OMIM:620166
9570	GOSR2	HP:0032794	Myoclonic seizure	1/2	OMIM:620166
9570	GOSR2	HP:0011182	Interictal epileptiform activity	1/1	OMIM:620166
9570	GOSR2	HP:0001730	Progressive hearing impairment	1/2	OMIM:620166
9570	GOSR2	HP:0001761	Pes cavus	1/6	OMIM:614018
9573	GDF3	HP:0009911	Abnormal temporal bone morphology	1/2	OMIM:613703
9573	GDF3	HP:0002414	Spina bifida	HP:0040283	ORPHA:2345
9573	GDF3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9573	GDF3	HP:0001293	Cranial nerve compression	-	OMIM:131300
9573	GDF3	HP:0001291	Abnormal cranial nerve morphology	HP:0040283	ORPHA:2345
9573	GDF3	HP:0001252	Hypotonia	2/7	OMIM:615777
9573	GDF3	HP:0001249	Intellectual disability	5/7	OMIM:615777
9573	GDF3	HP:0001263	Global developmental delay	-	OMIM:615777
9573	GDF3	HP:0010984	Digenic inheritance	-	OMIM:613703
9573	GDF3	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2345
9573	GDF3	HP:0002515	Waddling gait	54/102	OMIM:131300
9573	GDF3	HP:0034980	Synkinesis	HP:0040283	ORPHA:2345
9573	GDF3	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:2345
9573	GDF3	HP:0001382	Joint hypermobility	-	OMIM:615777
9573	GDF3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9573	GDF3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9573	GDF3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9573	GDF3	HP:0001324	Muscle weakness	40/96	OMIM:131300
9573	GDF3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9573	GDF3	HP:6000807	Cervical C6/C7 vertebrae fusion	-	OMIM:613702
9573	GDF3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9573	GDF3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9573	GDF3	HP:0000006	Autosomal dominant inheritance	-	OMIM:613703
9573	GDF3	HP:0000006	Autosomal dominant inheritance	-	OMIM:613702
9573	GDF3	HP:0000006	Autosomal dominant inheritance	-	OMIM:613704
9573	GDF3	HP:0002650	Scoliosis	HP:0040282	ORPHA:2345
9573	GDF3	HP:0002650	Scoliosis	12/14	OMIM:131300
9573	GDF3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9573	GDF3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9573	GDF3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9573	GDF3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9573	GDF3	HP:0000175	Cleft palate	HP:0040283	ORPHA:2345
9573	GDF3	HP:0000175	Cleft palate	2/7	OMIM:615777
9573	GDF3	HP:0007633	Bilateral microphthalmos	HP:0040281	OMIM:613703
9573	GDF3	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:2345
9573	GDF3	HP:0002023	Anal atresia	HP:0040283	ORPHA:2345
9573	GDF3	HP:0005988	Congenital muscular torticollis	HP:0040282	ORPHA:2345
9573	GDF3	HP:0004635	Cervical C5/C6 vertebrae fusion	-	OMIM:613702
9573	GDF3	HP:0005986	Limitation of neck motion	HP:0040281	ORPHA:2345
9573	GDF3	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2345
9573	GDF3	HP:0003388	Easy fatigability	36/76	OMIM:131300
9573	GDF3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9573	GDF3	HP:0004602	Cervical C2/C3 vertebral fusion	HP:0040281	ORPHA:2345
9573	GDF3	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:2345
9573	GDF3	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:2345
9573	GDF3	HP:0003577	Congenital onset	-	OMIM:613704
9573	GDF3	HP:0003510	Severe short stature	7/7	OMIM:615777
9573	GDF3	HP:0002315	Headache	-	OMIM:131300
9573	GDF3	HP:0002315	Headache	HP:0040282	ORPHA:2345
9573	GDF3	HP:0004976	Knee dislocation	6/7	OMIM:615777
9573	GDF3	HP:0009803	Short phalanx of finger	-	OMIM:615777
9573	GDF3	HP:0009763	Limb pain	63/92	OMIM:131300
9573	GDF3	HP:0003621	Juvenile onset	-	OMIM:131300
9573	GDF3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9573	GDF3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9573	GDF3	HP:0000639	Nystagmus	-	OMIM:613703
9573	GDF3	HP:6001056	Out-toeing	-	OMIM:131300
9573	GDF3	HP:0000651	Diplopia	-	OMIM:131300
9573	GDF3	HP:0000612	Iris coloboma	-	OMIM:613702
9573	GDF3	HP:0001956	Truncal obesity	2/7	OMIM:615777
9573	GDF3	HP:0001903	Anemia	HP:0040283	OMIM:131300
9573	GDF3	HP:0010049	Short metacarpal	-	OMIM:615777
9573	GDF3	HP:0000678	Dental crowding	-	OMIM:615777
9573	GDF3	HP:0000670	Carious teeth	-	OMIM:131300
9573	GDF3	HP:0011304	Broad thumb	2/7	OMIM:615777
9573	GDF3	HP:0000668	Hypodontia	-	OMIM:615777
9573	GDF3	HP:0000664	Synophrys	-	OMIM:615777
9573	GDF3	HP:0005640	Abnormal vertebral segmentation and fusion	HP:0040281	ORPHA:2345
9573	GDF3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2345
9573	GDF3	HP:0004397	Ectopic anus	HP:0040283	ORPHA:2345
9573	GDF3	HP:0004396	Poor appetite	-	OMIM:131300
9573	GDF3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9573	GDF3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9573	GDF3	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:2345
9573	GDF3	HP:0003043	Abnormal shoulder morphology	HP:0040282	ORPHA:2345
9573	GDF3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9573	GDF3	HP:0003026	Short long bone	7/7	OMIM:615777
9573	GDF3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9573	GDF3	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:2345
9573	GDF3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9573	GDF3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9573	GDF3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9573	GDF3	HP:0000750	Delayed speech and language development	-	OMIM:615777
9573	GDF3	HP:0011461	Fetal onset	7/7	OMIM:615777
9573	GDF3	HP:0000774	Narrow chest	2/7	OMIM:615777
9573	GDF3	HP:0000912	Sprengel anomaly	HP:0040282	ORPHA:2345
9573	GDF3	HP:0000925	Abnormality of the vertebral column	HP:0040281	ORPHA:2345
9573	GDF3	HP:0000926	Platyspondyly	1/7	OMIM:615777
9573	GDF3	HP:0003180	Flat acetabular roof	-	OMIM:615777
9573	GDF3	HP:0004482	Relative macrocephaly	-	OMIM:615777
9573	GDF3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9573	GDF3	HP:0000823	Delayed puberty	-	OMIM:131300
9573	GDF3	HP:0000894	Short clavicles	-	OMIM:615777
9573	GDF3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9573	GDF3	HP:0003298	Spina bifida occulta	HP:0040282	ORPHA:2345
9573	GDF3	HP:0030833	Neck pain	HP:0040282	ORPHA:2345
9573	GDF3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9573	GDF3	HP:0000286	Epicanthus	1/7	OMIM:615777
9573	GDF3	HP:0000280	Coarse facial features	2/7	OMIM:615777
9573	GDF3	HP:0005107	Abnormal sacrum morphology	HP:0040283	ORPHA:2345
9573	GDF3	HP:0007766	Optic disc hypoplasia	-	OMIM:613703
9573	GDF3	HP:0007750	Hypoplasia of the fovea	-	OMIM:613703
9573	GDF3	HP:0002827	Hip dislocation	3/7	OMIM:615777
9573	GDF3	HP:0000252	Microcephaly	-	OMIM:615777
9573	GDF3	HP:0002857	Genu valgum	-	OMIM:131300
9573	GDF3	HP:0001533	Slender build	-	OMIM:131300
9573	GDF3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9573	GDF3	HP:0007807	Optic nerve compression	-	OMIM:131300
9573	GDF3	HP:0012368	Flat face	7/7	OMIM:615777
9573	GDF3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9573	GDF3	HP:0002943	Thoracic scoliosis	-	OMIM:613702
9573	GDF3	HP:0000365	Hearing impairment	HP:0040282	ORPHA:2345
9573	GDF3	HP:0000365	Hearing impairment	10/67	OMIM:131300
9573	GDF3	HP:0000343	Long philtrum	1/7	OMIM:615777
9573	GDF3	HP:0011001	Increased bone mineral density	-	OMIM:131300
9573	GDF3	HP:0000311	Round face	2/7	OMIM:615777
9573	GDF3	HP:0000324	Facial asymmetry	HP:0040281	ORPHA:2345
9573	GDF3	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:2345
9573	GDF3	HP:0002970	Genu varum	-	OMIM:615777
9573	GDF3	HP:0000303	Mandibular prognathia	-	OMIM:131300
9573	GDF3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9573	GDF3	HP:0000470	Short neck	HP:0040281	ORPHA:2345
9573	GDF3	HP:0000470	Short neck	1/7	OMIM:615777
9573	GDF3	HP:0000465	Webbed neck	HP:0040281	ORPHA:2345
9573	GDF3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9573	GDF3	HP:0001763	Pes planus	1/7	OMIM:615777
9573	GDF3	HP:0030281	Cervical C3/C4 vertebral fusion	-	OMIM:613702
9573	GDF3	HP:0001840	Metatarsus adductus	-	OMIM:615777
9573	GDF3	HP:0000520	Proptosis	2/4	OMIM:131300
9573	GDF3	HP:0000520	Proptosis	7/7	OMIM:615777
9573	GDF3	HP:0000505	Visual impairment	-	OMIM:613703
9573	GDF3	HP:0000592	Blue sclerae	2/7	OMIM:615777
9573	GDF3	HP:0000589	Coloboma	HP:0040281	OMIM:613703
9573	GDF3	HP:0000568	Microphthalmia	2/3	OMIM:613704
9573	GDF3	HP:0000567	Chorioretinal coloboma	-	OMIM:613702
9573	GDF3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9573	GDF3	HP:0012514	Lower limb pain	4/4	OMIM:131300
9578	CDC42BPB	HP:0001182	Tapered finger	2/14	OMIM:619841
9578	CDC42BPB	HP:0001137	Alternating esotropia	1/12	OMIM:619841
9578	CDC42BPB	HP:0010952	Mild fetal ventriculomegaly	2/14	OMIM:619841
9578	CDC42BPB	HP:0010945	Fetal pyelectasis	1/14	OMIM:619841
9578	CDC42BPB	HP:0009909	Uplifted earlobe	1/14	OMIM:619841
9578	CDC42BPB	HP:0001274	Agenesis of corpus callosum	1/12	OMIM:619841
9578	CDC42BPB	HP:0001252	Hypotonia	9/12	OMIM:619841
9578	CDC42BPB	HP:0001249	Intellectual disability	7/11	OMIM:619841
9578	CDC42BPB	HP:0001263	Global developmental delay	9/14	OMIM:619841
9578	CDC42BPB	HP:0002572	Episodic vomiting	1/14	OMIM:619841
9578	CDC42BPB	HP:0001238	Slender finger	1/14	OMIM:619841
9578	CDC42BPB	HP:0100842	Septo-optic dysplasia	1/12	OMIM:619841
9578	CDC42BPB	HP:0002553	Highly arched eyebrow	1/14	OMIM:619841
9578	CDC42BPB	HP:0002509	Limb hypertonia	1/14	OMIM:619841
9578	CDC42BPB	HP:0000041	Chordee	1/12	OMIM:619841
9578	CDC42BPB	HP:0000054	Micropenis	2/12	OMIM:619841
9578	CDC42BPB	HP:0001382	Joint hypermobility	2/14	OMIM:619841
9578	CDC42BPB	HP:0000047	Hypospadias	1/12	OMIM:619841
9578	CDC42BPB	HP:0001357	Plagiocephaly	1/14	OMIM:619841
9578	CDC42BPB	HP:0000028	Cryptorchidism	4/11	OMIM:619841
9578	CDC42BPB	HP:0000010	Recurrent urinary tract infections	1/14	OMIM:619841
9578	CDC42BPB	HP:0001334	Communicating hydrocephalus	1/12	OMIM:619841
9578	CDC42BPB	HP:0000006	Autosomal dominant inheritance	-	OMIM:619841
9578	CDC42BPB	HP:0001320	Cerebellar vermis hypoplasia	3/12	OMIM:619841
9578	CDC42BPB	HP:0002650	Scoliosis	1/14	OMIM:619841
9578	CDC42BPB	HP:0001488	Bilateral ptosis	1/14	OMIM:619841
9578	CDC42BPB	HP:0000154	Wide mouth	1/14	OMIM:619841
9578	CDC42BPB	HP:0032592	Aplasia of the right hemidiaphragm	1/14	OMIM:619841
9578	CDC42BPB	HP:0004689	Short fourth metatarsal	1/14	OMIM:619841
9578	CDC42BPB	HP:0002007	Frontal bossing	1/14	OMIM:619841
9578	CDC42BPB	HP:0002099	Asthma	1/14	OMIM:619841
9578	CDC42BPB	HP:0004736	Crossed fused renal ectopia	1/14	OMIM:619841
9578	CDC42BPB	HP:0004704	Short fifth metatarsal	1/14	OMIM:619841
9578	CDC42BPB	HP:0010579	Cone-shaped epiphysis	1/14	OMIM:619841
9578	CDC42BPB	HP:0003577	Congenital onset	6/14	OMIM:619841
9578	CDC42BPB	HP:0100716	Self-injurious behavior	1/14	OMIM:619841
9578	CDC42BPB	HP:0002209	Sparse scalp hair	1/14	OMIM:619841
9578	CDC42BPB	HP:0200085	Limb tremor	2/14	OMIM:619841
9578	CDC42BPB	HP:0007018	Attention deficit hyperactivity disorder	2/14	OMIM:619841
9578	CDC42BPB	HP:0010627	Anterior pituitary hypoplasia	1/12	OMIM:619841
9578	CDC42BPB	HP:0002370	Poor coordination	1/14	OMIM:619841
9578	CDC42BPB	HP:0033454	Tube feeding	1/14	OMIM:619841
9578	CDC42BPB	HP:0009765	Low hanging columella	1/14	OMIM:619841
9578	CDC42BPB	HP:0003623	Neonatal onset	2/14	OMIM:619841
9578	CDC42BPB	HP:0000646	Amblyopia	1/12	OMIM:619841
9578	CDC42BPB	HP:0011327	Posterior plagiocephaly	1/14	OMIM:619841
9578	CDC42BPB	HP:0000687	Widely spaced teeth	2/14	OMIM:619841
9578	CDC42BPB	HP:0000664	Synophrys	1/14	OMIM:619841
9578	CDC42BPB	HP:0004322	Short stature	2/14	OMIM:619841
9578	CDC42BPB	HP:0000767	Pectus excavatum	2/14	OMIM:619841
9578	CDC42BPB	HP:0000739	Anxiety	3/14	OMIM:619841
9578	CDC42BPB	HP:0000718	Aggressive behavior	4/14	OMIM:619841
9578	CDC42BPB	HP:0000729	Autistic behavior	9/13	OMIM:619841
9578	CDC42BPB	HP:0011461	Fetal onset	6/14	OMIM:619841
9578	CDC42BPB	HP:0010296	Ankyloglossia	1/14	OMIM:619841
9578	CDC42BPB	HP:0000894	Short clavicles	1/14	OMIM:619841
9578	CDC42BPB	HP:0045075	Sparse eyebrow	2/14	OMIM:619841
9578	CDC42BPB	HP:0030820	Hooded eyelid	1/14	OMIM:619841
9578	CDC42BPB	HP:0000954	Single transverse palmar crease	1/14	OMIM:619841
9578	CDC42BPB	HP:0045025	Narrow palpebral fissure	1/14	OMIM:619841
9578	CDC42BPB	HP:0008081	Pes valgus	1/14	OMIM:619841
9578	CDC42BPB	HP:0008070	Sparse hair	1/14	OMIM:619841
9578	CDC42BPB	HP:0009381	Short finger	1/14	OMIM:619841
9578	CDC42BPB	HP:0000293	Full cheeks	1/14	OMIM:619841
9578	CDC42BPB	HP:0000294	Low anterior hairline	1/14	OMIM:619841
9578	CDC42BPB	HP:0000256	Macrocephaly	2/14	OMIM:619841
9578	CDC42BPB	HP:0000276	Long face	1/14	OMIM:619841
9578	CDC42BPB	HP:0000268	Dolichocephaly	1/14	OMIM:619841
9578	CDC42BPB	HP:0000252	Microcephaly	1/12	OMIM:619841
9578	CDC42BPB	HP:0000219	Thin upper lip vermilion	1/14	OMIM:619841
9578	CDC42BPB	HP:0001562	Oligohydramnios	1/14	OMIM:619841
9578	CDC42BPB	HP:0001561	Polyhydramnios	2/14	OMIM:619841
9578	CDC42BPB	HP:0001558	Decreased fetal movement	1/14	OMIM:619841
9578	CDC42BPB	HP:0001555	Asymmetry of the thorax	1/14	OMIM:619841
9578	CDC42BPB	HP:0002870	Obstructive sleep apnea	2/14	OMIM:619841
9578	CDC42BPB	HP:0001500	Broad finger	1/14	OMIM:619841
9578	CDC42BPB	HP:0001511	Intrauterine growth retardation	1/14	OMIM:619841
9578	CDC42BPB	HP:0006485	Agenesis of incisor	1/14	OMIM:619841
9578	CDC42BPB	HP:0000369	Low-set ears	1/14	OMIM:619841
9578	CDC42BPB	HP:0000337	Broad forehead	1/14	OMIM:619841
9578	CDC42BPB	HP:0000348	High forehead	1/14	OMIM:619841
9578	CDC42BPB	HP:0000347	Micrognathia	1/14	OMIM:619841
9578	CDC42BPB	HP:0000319	Smooth philtrum	1/14	OMIM:619841
9578	CDC42BPB	HP:0000316	Hypertelorism	2/14	OMIM:619841
9578	CDC42BPB	HP:0001643	Patent ductus arteriosus	1/10	OMIM:619841
9578	CDC42BPB	HP:0000322	Short philtrum	1/14	OMIM:619841
9578	CDC42BPB	HP:0001655	Patent foramen ovale	1/10	OMIM:619841
9578	CDC42BPB	HP:0000303	Mandibular prognathia	1/14	OMIM:619841
9578	CDC42BPB	HP:0005338	Sparse lateral eyebrow	1/14	OMIM:619841
9578	CDC42BPB	HP:0000407	Sensorineural hearing impairment	1/13	OMIM:619841
9578	CDC42BPB	HP:0000403	Recurrent otitis media	3/13	OMIM:619841
9578	CDC42BPB	HP:0005280	Depressed nasal bridge	1/14	OMIM:619841
9578	CDC42BPB	HP:0000486	Strabismus	1/12	OMIM:619841
9578	CDC42BPB	HP:0000476	Cystic hygroma	1/14	OMIM:619841
9578	CDC42BPB	HP:0000494	Downslanted palpebral fissures	2/14	OMIM:619841
9578	CDC42BPB	HP:0000463	Anteverted nares	2/14	OMIM:619841
9578	CDC42BPB	HP:0000455	Broad nasal tip	1/14	OMIM:619841
9578	CDC42BPB	HP:0001769	Broad foot	1/14	OMIM:619841
9578	CDC42BPB	HP:0001763	Pes planus	1/14	OMIM:619841
9578	CDC42BPB	HP:0000426	Prominent nasal bridge	2/14	OMIM:619841
9578	CDC42BPB	HP:0000421	Epistaxis	1/13	OMIM:619841
9578	CDC42BPB	HP:0000527	Long eyelashes	1/14	OMIM:619841
9578	CDC42BPB	HP:0000508	Ptosis	3/26	OMIM:619841
9578	CDC42BPB	HP:0000582	Upslanted palpebral fissure	1/14	OMIM:619841
9578	CDC42BPB	HP:0012541	Cephalohematoma	1/14	OMIM:619841
9578	CDC42BPB	HP:0000537	Epicanthus inversus	1/14	OMIM:619841
9581	PREPL	HP:0003701	Proximal muscle weakness	1/1	OMIM:616224
9581	PREPL	HP:0001270	Motor delay	-	OMIM:616224
9581	PREPL	HP:0001250	Seizure	HP:0040282	ORPHA:163693
9581	PREPL	HP:0001252	Hypotonia	HP:0040281	ORPHA:163690
9581	PREPL	HP:0001252	Hypotonia	HP:0040281	ORPHA:163693
9581	PREPL	HP:0001252	Hypotonia	1/1	OMIM:616224
9581	PREPL	HP:0002591	Polyphagia	HP:0040281	ORPHA:163690
9581	PREPL	HP:0001263	Global developmental delay	HP:0040281	ORPHA:163693
9581	PREPL	HP:0002515	Waddling gait	1/1	OMIM:616224
9581	PREPL	HP:0001324	Muscle weakness	-	OMIM:616224
9581	PREPL	HP:0000007	Autosomal recessive inheritance	-	OMIM:616224
9581	PREPL	HP:0000135	Hypogonadism	HP:0040281	ORPHA:163693
9581	PREPL	HP:0002007	Frontal bossing	HP:0040282	ORPHA:163690
9581	PREPL	HP:0002007	Frontal bossing	HP:0040281	ORPHA:163693
9581	PREPL	HP:0003577	Congenital onset	1/1	OMIM:616224
9581	PREPL	HP:0200125	Mitochondrial respiratory chain defects	HP:0040281	ORPHA:163693
9581	PREPL	HP:0011968	Feeding difficulties	1/1	OMIM:616224
9581	PREPL	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:163693
9581	PREPL	HP:0010804	Tented upper lip vermilion	1/1	OMIM:616224
9581	PREPL	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:163693
9581	PREPL	HP:0004322	Short stature	-	OMIM:616224
9581	PREPL	HP:0000787	Nephrolithiasis	HP:0040281	ORPHA:163690
9581	PREPL	HP:0000787	Nephrolithiasis	HP:0040281	ORPHA:163693
9581	PREPL	HP:0003131	Cystinuria	0/1	OMIM:616224
9581	PREPL	HP:0003131	Cystinuria	HP:0040281	ORPHA:163690
9581	PREPL	HP:0003131	Cystinuria	HP:0040281	ORPHA:163693
9581	PREPL	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:163693
9581	PREPL	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:616224
9581	PREPL	HP:0000286	Epicanthus	HP:0040282	ORPHA:163690
9581	PREPL	HP:0000278	Retrognathia	HP:0040282	ORPHA:163690
9581	PREPL	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:163690
9581	PREPL	HP:0001558	Decreased fetal movement	HP:0040281	ORPHA:163690
9581	PREPL	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:163693
9581	PREPL	HP:0001508	Failure to thrive	HP:0040281	ORPHA:163690
9581	PREPL	HP:0001508	Failure to thrive	HP:0040281	ORPHA:163693
9581	PREPL	HP:0001510	Growth delay	HP:0040281	ORPHA:163690
9581	PREPL	HP:0001510	Growth delay	HP:0040281	ORPHA:163693
9581	PREPL	HP:0012378	Fatigue	HP:0040282	ORPHA:163690
9581	PREPL	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	0/1	OMIM:616224
9581	PREPL	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:163690
9581	PREPL	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:163693
9581	PREPL	HP:0002901	Hypocalcemia	HP:0040282	ORPHA:163693
9581	PREPL	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:163693
9581	PREPL	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:163693
9581	PREPL	HP:0000527	Long eyelashes	HP:0040281	ORPHA:163693
9581	PREPL	HP:0000508	Ptosis	1/1	OMIM:616224
9581	PREPL	HP:0000508	Ptosis	HP:0040281	ORPHA:163690
9607	CARTPT	HP:0010982	Polygenic inheritance	-	OMIM:601665
9607	CARTPT	HP:0000007	Autosomal recessive inheritance	-	OMIM:601665
9607	CARTPT	HP:0000006	Autosomal dominant inheritance	-	OMIM:601665
9607	CARTPT	HP:0031819	Increased waist to hip ratio	-	OMIM:601665
9607	CARTPT	HP:0001513	Obesity	-	OMIM:601665
9607	CARTPT	HP:0012340	Decreased resting energy expenditure	-	OMIM:601665
9620	CELSR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
9620	CELSR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619319
9620	CELSR1	HP:0002619	Varicose veins	-	OMIM:153400
9620	CELSR1	HP:0000175	Cleft palate	5/39	OMIM:153400
9620	CELSR1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
9620	CELSR1	HP:0003550	Predominantly lower limb lymphedema	2/2	OMIM:619319
9620	CELSR1	HP:0009743	Distichiasis	42/42	OMIM:153400
9620	CELSR1	HP:0001004	Lymphedema	-	OMIM:153400
9620	CELSR1	HP:0100658	Cellulitis	2/6	OMIM:153400
9620	CELSR1	HP:0000613	Photophobia	10/49	OMIM:153400
9620	CELSR1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
9620	CELSR1	HP:0000656	Ectropion	2/43	OMIM:153400
9620	CELSR1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
9620	CELSR1	HP:0012804	Corneal ulceration	-	OMIM:153400
9620	CELSR1	HP:0010310	Chylothorax	1/6	OMIM:153400
9620	CELSR1	HP:0011675	Arrhythmia	-	OMIM:153400
9620	CELSR1	HP:0002808	Kyphosis	2/5	OMIM:153400
9620	CELSR1	HP:0033986	Tortuous lymphatic vessels	1/2	OMIM:619319
9620	CELSR1	HP:0000204	Cleft upper lip	-	OMIM:153400
9620	CELSR1	HP:0000347	Micrognathia	2/5	OMIM:153400
9620	CELSR1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
9620	CELSR1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
9620	CELSR1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
9620	CELSR1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
9620	CELSR1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
9620	CELSR1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
9620	CELSR1	HP:0000465	Webbed neck	6/43	OMIM:153400
9620	CELSR1	HP:0000509	Conjunctivitis	-	OMIM:153400
9620	CELSR1	HP:0000508	Ptosis	2/39	OMIM:153400
9620	CELSR1	HP:0000568	Microphthalmia	1/6	OMIM:153400
9622	KLK4	HP:0000007	Autosomal recessive inheritance	-	OMIM:204700
9622	KLK4	HP:0006285	Enamel hypomineralization	2/2	OMIM:204700
9622	KLK4	HP:0006286	Yellow-brown discoloration of the teeth	2/2	OMIM:204700
9622	KLK4	HP:0003593	Infantile onset	2/2	OMIM:204700
9622	KLK4	HP:0000670	Carious teeth	-	OMIM:204700
9622	KLK4	HP:0009102	Anterior open-bite malocclusion	1/2	OMIM:204700
9622	KLK4	HP:0000705	Amelogenesis imperfecta	2/2	OMIM:204700
9627	SNCAIP	HP:0007311	Short stepped shuffling gait	-	OMIM:168600
9627	SNCAIP	HP:0003745	Sporadic	-	OMIM:168600
9627	SNCAIP	HP:0001260	Dysarthria	-	OMIM:168600
9627	SNCAIP	HP:0002529	Neuronal loss in central nervous system	-	OMIM:168600
9627	SNCAIP	HP:0001332	Dystonia	-	OMIM:168600
9627	SNCAIP	HP:0000012	Urinary urgency	-	OMIM:168600
9627	SNCAIP	HP:0001337	Tremor	-	OMIM:168600
9627	SNCAIP	HP:0000006	Autosomal dominant inheritance	-	OMIM:168600
9627	SNCAIP	HP:0001300	Parkinsonism	-	OMIM:168600
9627	SNCAIP	HP:0002019	Constipation	-	OMIM:168600
9627	SNCAIP	HP:0002015	Dysphagia	-	OMIM:168600
9627	SNCAIP	HP:0002067	Bradykinesia	-	OMIM:168600
9627	SNCAIP	HP:0002063	Rigidity	-	OMIM:168600
9627	SNCAIP	HP:0002172	Postural instability	-	OMIM:168600
9627	SNCAIP	HP:0003587	Insidious onset	-	OMIM:168600
9627	SNCAIP	HP:0003584	Late onset	-	OMIM:168600
9627	SNCAIP	HP:0003581	Adult onset	-	OMIM:168600
9627	SNCAIP	HP:0011960	Substantia nigra gliosis	-	OMIM:168600
9627	SNCAIP	HP:0002360	Sleep abnormality	-	OMIM:168600
9627	SNCAIP	HP:0003676	Progressive	-	OMIM:168600
9627	SNCAIP	HP:0002322	Resting tremor	-	OMIM:168600
9627	SNCAIP	HP:0031908	Micrographia	-	OMIM:168600
9627	SNCAIP	HP:0000751	Personality changes	-	OMIM:168600
9627	SNCAIP	HP:0000738	Hallucinations	HP:0040283	OMIM:168600
9627	SNCAIP	HP:0000716	Depression	-	OMIM:168600
9627	SNCAIP	HP:0000726	Dementia	-	OMIM:168600
9627	SNCAIP	HP:0100315	Lewy bodies	-	OMIM:168600
9627	SNCAIP	HP:0000298	Mask-like facies	-	OMIM:168600
9627	SNCAIP	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	OMIM:168600
9627	SNCAIP	HP:0001621	Weak voice	-	OMIM:168600
9630	GNA14	HP:0010990	Abnormality of the common coagulation pathway	HP:0040283	ORPHA:1063
9630	GNA14	HP:0025474	Erythematous plaque	HP:0040282	ORPHA:2122
9630	GNA14	HP:0033106	Elevated circulating D-dimer concentration	HP:0040282	ORPHA:2122
9630	GNA14	HP:0011900	Hypofibrinogenemia	HP:0040283	ORPHA:1063
9630	GNA14	HP:0011900	Hypofibrinogenemia	HP:0040282	ORPHA:2122
9630	GNA14	HP:0003401	Paresthesia	HP:0040283	ORPHA:1063
9630	GNA14	HP:0001004	Lymphedema	HP:0040282	ORPHA:2122
9630	GNA14	HP:0005520	Chronic disseminated intravascular coagulation	HP:0040282	ORPHA:2122
9630	GNA14	HP:0005548	Megakaryocytopenia	HP:0040283	ORPHA:1063
9630	GNA14	HP:0001937	Microangiopathic hemolytic anemia	HP:0040282	ORPHA:2122
9630	GNA14	HP:0001903	Anemia	HP:0040282	ORPHA:1063
9630	GNA14	HP:0011355	Localized skin lesion	HP:0040282	ORPHA:1063
9630	GNA14	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:1063
9630	GNA14	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:2122
9630	GNA14	HP:0000979	Purpura	HP:0040282	ORPHA:2122
9630	GNA14	HP:0000979	Purpura	HP:0040283	ORPHA:1063
9630	GNA14	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1063
9630	GNA14	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:2122
9630	GNA14	HP:0000969	Edema	HP:0040282	ORPHA:2122
9630	GNA14	HP:0000967	Petechiae	HP:0040282	ORPHA:2122
9630	GNA14	HP:0000967	Petechiae	HP:0040283	ORPHA:1063
9630	GNA14	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:1063
9630	GNA14	HP:0000329	Facial hemangioma	HP:0040283	ORPHA:1063
9630	GNA14	HP:0031490	Hemangioma of the lip	HP:0040283	ORPHA:1063
9630	GNA14	HP:0030350	Erythematous papule	HP:0040282	ORPHA:2122
9630	GNA14	HP:0000565	Esotropia	HP:0040283	ORPHA:1063
9630	GNA14	HP:0012531	Pain	HP:0040282	ORPHA:2122
9630	GNA14	HP:0012531	Pain	HP:0040283	ORPHA:1063
9630	GNA14	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:1063
9630	GNA14	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:2122
9631	NUP155	HP:0001279	Syncope	HP:0040282	ORPHA:334
9631	NUP155	HP:0000007	Autosomal recessive inheritance	-	OMIM:615770
9631	NUP155	HP:0031295	Left atrial enlargement	1/5	OMIM:615770
9631	NUP155	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
9631	NUP155	HP:0004755	Supraventricular tachycardia	3/5	OMIM:615770
9631	NUP155	HP:0004749	Atrial flutter	2/5	OMIM:615770
9631	NUP155	HP:0003577	Congenital onset	2/5	OMIM:615770
9631	NUP155	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
9631	NUP155	HP:0100749	Chest pain	HP:0040282	ORPHA:334
9631	NUP155	HP:0002321	Vertigo	HP:0040282	ORPHA:334
9631	NUP155	HP:0001962	Palpitations	HP:0040282	ORPHA:334
9631	NUP155	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
9631	NUP155	HP:0034197	Third trimester onset	3/5	OMIM:615770
9631	NUP155	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
9631	NUP155	HP:0005110	Atrial fibrillation	5/5	OMIM:615770
9631	NUP155	HP:0012378	Fatigue	HP:0040282	ORPHA:334
9631	NUP155	HP:0001645	Sudden cardiac death	2/5	OMIM:615770
9631	NUP155	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
9631	NUP155	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
9632	SEC24C	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:567
9632	SEC24C	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:567
9632	SEC24C	HP:0002435	Meningocele	HP:0040282	ORPHA:567
9632	SEC24C	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:567
9632	SEC24C	HP:0002414	Spina bifida	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001281	Tetany	HP:0040282	ORPHA:567
9632	SEC24C	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:567
9632	SEC24C	HP:0001250	Seizure	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001252	Hypotonia	HP:0040281	ORPHA:567
9632	SEC24C	HP:0001249	Intellectual disability	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001263	Global developmental delay	HP:0040282	ORPHA:567
9632	SEC24C	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:567
9632	SEC24C	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001369	Arthritis	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000047	Hypospadias	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:567
9632	SEC24C	HP:0002691	Platybasia	HP:0040281	ORPHA:567
9632	SEC24C	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:567
9632	SEC24C	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001328	Specific learning disability	HP:0040282	ORPHA:567
9632	SEC24C	HP:0002650	Scoliosis	HP:0040282	ORPHA:567
9632	SEC24C	HP:0002619	Varicose veins	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001300	Parkinsonism	HP:0040283	ORPHA:567
9632	SEC24C	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:567
9632	SEC24C	HP:0000160	Narrow mouth	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000175	Cleft palate	HP:0040281	ORPHA:567
9632	SEC24C	HP:0000113	Polycystic kidney dysplasia	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:567
9632	SEC24C	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:567
9632	SEC24C	HP:0002023	Anal atresia	HP:0040283	ORPHA:567
9632	SEC24C	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:567
9632	SEC24C	HP:0002019	Constipation	HP:0040282	ORPHA:567
9632	SEC24C	HP:0003326	Myalgia	HP:0040282	ORPHA:567
9632	SEC24C	HP:0002099	Asthma	HP:0040283	ORPHA:567
9632	SEC24C	HP:0002139	Arrhinencephaly	HP:0040283	ORPHA:567
9632	SEC24C	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:567
9632	SEC24C	HP:0011840	Abnormality of T cell physiology	HP:0040282	ORPHA:567
9632	SEC24C	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:567
9632	SEC24C	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:567
9632	SEC24C	HP:0100765	Abnormality of the tonsils	HP:0040282	ORPHA:567
9632	SEC24C	HP:0100735	Hypertensive crisis	HP:0040283	ORPHA:567
9632	SEC24C	HP:0100750	Atelectasis	HP:0040283	ORPHA:567
9632	SEC24C	HP:0100753	Schizophrenia	HP:0040283	ORPHA:567
9632	SEC24C	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:567
9632	SEC24C	HP:0001051	Seborrheic dermatitis	HP:0040282	ORPHA:567
9632	SEC24C	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:567
9632	SEC24C	HP:0002381	Aphasia	HP:0040281	ORPHA:567
9632	SEC24C	HP:0001061	Acne	HP:0040282	ORPHA:567
9632	SEC24C	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:567
9632	SEC24C	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000648	Optic atrophy	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:567
9632	SEC24C	HP:0000600	Abnormality of the pharynx	HP:0040281	ORPHA:567
9632	SEC24C	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:567
9632	SEC24C	HP:0011324	Multiple suture craniosynostosis	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000670	Carious teeth	HP:0040282	ORPHA:567
9632	SEC24C	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:567
9632	SEC24C	HP:0004322	Short stature	HP:0040282	ORPHA:567
9632	SEC24C	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:567
9632	SEC24C	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:567
9632	SEC24C	HP:0000765	Abnormal thorax morphology	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000739	Anxiety	HP:0040282	ORPHA:567
9632	SEC24C	HP:0000716	Depression	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000717	Autism	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000708	Atypical behavior	HP:0040283	ORPHA:567
9632	SEC24C	HP:0011496	Corneal neovascularization	HP:0040282	ORPHA:567
9632	SEC24C	HP:0000778	Hypoplasia of the thymus	HP:0040281	ORPHA:567
9632	SEC24C	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:567
9632	SEC24C	HP:0000836	Hyperthyroidism	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000829	Hypoparathyroidism	HP:0040282	ORPHA:567
9632	SEC24C	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:567
9632	SEC24C	HP:0011662	Tricuspid atresia	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000979	Purpura	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000286	Epicanthus	HP:0040281	ORPHA:567
9632	SEC24C	HP:0000262	Turricephaly	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000276	Long face	HP:0040282	ORPHA:567
9632	SEC24C	HP:0000272	Malar flattening	HP:0040282	ORPHA:567
9632	SEC24C	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000252	Microcephaly	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001508	Failure to thrive	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001513	Obesity	HP:0040283	ORPHA:567
9632	SEC24C	HP:0006510	Chronic pulmonary obstruction	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000385	Small earlobe	HP:0040282	ORPHA:567
9632	SEC24C	HP:0000396	Overfolded helix	HP:0040282	ORPHA:567
9632	SEC24C	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:567
9632	SEC24C	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:567
9632	SEC24C	HP:0002901	Hypocalcemia	HP:0040282	ORPHA:567
9632	SEC24C	HP:0000365	Hearing impairment	HP:0040282	ORPHA:567
9632	SEC24C	HP:0000369	Low-set ears	HP:0040281	ORPHA:567
9632	SEC24C	HP:0000343	Long philtrum	HP:0040282	ORPHA:567
9632	SEC24C	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000347	Micrognathia	HP:0040283	ORPHA:567
9632	SEC24C	HP:0012303	Abnormal aortic arch morphology	HP:0040281	ORPHA:567
9632	SEC24C	HP:0000316	Hypertelorism	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001660	Truncus arteriosus	HP:0040281	ORPHA:567
9632	SEC24C	HP:0000322	Short philtrum	HP:0040283	ORPHA:567
9632	SEC24C	HP:0002960	Autoimmunity	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001629	Ventricular septal defect	HP:0040281	ORPHA:567
9632	SEC24C	HP:0001641	Abnormal pulmonary valve morphology	HP:0040281	ORPHA:567
9632	SEC24C	HP:0001636	Tetralogy of Fallot	HP:0040281	ORPHA:567
9632	SEC24C	HP:0001631	Atrial septal defect	HP:0040281	ORPHA:567
9632	SEC24C	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:567
9632	SEC24C	HP:0000486	Strabismus	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000492	Abnormal eyelid morphology	HP:0040282	ORPHA:567
9632	SEC24C	HP:0000470	Short neck	HP:0040282	ORPHA:567
9632	SEC24C	HP:0000453	Choanal atresia	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000414	Bulbous nose	HP:0040281	ORPHA:567
9632	SEC24C	HP:0001744	Splenomegaly	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:567
9632	SEC24C	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:567
9632	SEC24C	HP:0000518	Cataract	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000506	Telecanthus	HP:0040281	ORPHA:567
9632	SEC24C	HP:0000508	Ptosis	HP:0040282	ORPHA:567
9632	SEC24C	HP:0000501	Glaucoma	HP:0040283	ORPHA:567
9632	SEC24C	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:567
9632	SEC24C	HP:0000568	Microphthalmia	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001872	Abnormality of thrombocytes	HP:0040283	ORPHA:567
9632	SEC24C	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:567
9636	ISG15	HP:0001250	Seizure	3/6	OMIM:616126
9636	ISG15	HP:0000007	Autosomal recessive inheritance	-	OMIM:616126
9636	ISG15	HP:0002716	Lymphadenopathy	2/3	OMIM:616126
9636	ISG15	HP:0002721	Immunodeficiency	-	OMIM:616126
9636	ISG15	HP:0002135	Basal ganglia calcification	3/3	OMIM:616126
9636	ISG15	HP:0003593	Infantile onset	1/1	OMIM:616126
9636	ISG15	HP:0020086	BCGitis	3/3	OMIM:616126
9636	ISG15	HP:0034751	Inguinal lymphadenopathy	1/3	OMIM:616126
9636	ISG15	HP:0034752	Axillary lymphadenopathy	1/3	OMIM:616126
9636	ISG15	HP:0012759	Neurodevelopmental abnormality	0/3	OMIM:616126
9636	ISG15	HP:0004429	Recurrent viral infections	0/3	OMIM:616126
9636	ISG15	HP:0011274	Recurrent mycobacterial infections	2/3	OMIM:616126
9636	ISG15	HP:0031691	Severe viral infection	0/3	OMIM:616126
9639	ARHGEF10	HP:0000006	Autosomal dominant inheritance	-	OMIM:608236
9639	ARHGEF10	HP:0003383	Onion bulb formation	-	OMIM:608236
9639	ARHGEF10	HP:0003581	Adult onset	-	OMIM:608236
9639	ARHGEF10	HP:0000762	Decreased nerve conduction velocity	-	OMIM:608236
9639	ARHGEF10	HP:0011096	Peripheral demyelination	-	OMIM:608236
9640	ZNF592	HP:0001270	Motor delay	HP:0040281	ORPHA:83472
9640	ZNF592	HP:0001250	Seizure	HP:0040282	ORPHA:83472
9640	ZNF592	HP:0001252	Hypotonia	HP:0040281	ORPHA:83472
9640	ZNF592	HP:0001251	Ataxia	HP:0040281	ORPHA:83472
9640	ZNF592	HP:0001249	Intellectual disability	HP:0040281	ORPHA:83472
9640	ZNF592	HP:0001260	Dysarthria	HP:0040282	ORPHA:83472
9640	ZNF592	HP:0001257	Spasticity	HP:0040282	ORPHA:83472
9640	ZNF592	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:83472
9640	ZNF592	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:83472
9640	ZNF592	HP:0000100	Nephrotic syndrome	HP:0040282	ORPHA:83472
9640	ZNF592	HP:0007153	Progressive extrapyramidal movement disorder	HP:0040281	ORPHA:83472
9640	ZNF592	HP:0000648	Optic atrophy	HP:0040281	ORPHA:83472
9640	ZNF592	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:83472
9640	ZNF592	HP:0000252	Microcephaly	HP:0040281	ORPHA:83472
9640	ZNF592	HP:0012444	Brain atrophy	HP:0040282	ORPHA:83472
9646	CTR9	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:654
9646	CTR9	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:654
9646	CTR9	HP:0000047	Hypospadias	HP:0040283	ORPHA:654
9646	CTR9	HP:0033834	Malaise	HP:0040283	ORPHA:654
9646	CTR9	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:654
9646	CTR9	HP:0002664	Neoplasm	HP:0040281	ORPHA:654
9646	CTR9	HP:0002667	Nephroblastoma	HP:0040281	ORPHA:654
9646	CTR9	HP:0031105	Abnormal uterus morphology	HP:0040283	ORPHA:654
9646	CTR9	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:654
9646	CTR9	HP:0002027	Abdominal pain	HP:0040282	ORPHA:654
9646	CTR9	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:654
9646	CTR9	HP:0002094	Dyspnea	HP:0040284	ORPHA:654
9646	CTR9	HP:0008330	Reduced von Willebrand factor activity	HP:0040283	ORPHA:654
9646	CTR9	HP:0005580	Duplication of renal pelvis	HP:0040282	ORPHA:654
9646	CTR9	HP:0001945	Fever	HP:0040283	ORPHA:654
9646	CTR9	HP:0001903	Anemia	HP:0040283	ORPHA:654
9646	CTR9	HP:0001901	Polycythemia	HP:0040283	ORPHA:654
9646	CTR9	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:654
9646	CTR9	HP:0012871	Varicocele	HP:0040283	ORPHA:654
9646	CTR9	HP:0000822	Hypertension	HP:0040283	ORPHA:654
9646	CTR9	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:654
9646	CTR9	HP:0001528	Hemihypertrophy	HP:0040283	ORPHA:654
9646	CTR9	HP:0031500	Abdominal mass	HP:0040281	ORPHA:654
9646	CTR9	HP:0002907	Microscopic hematuria	HP:0040283	ORPHA:654
9646	CTR9	HP:0000526	Aniridia	HP:0040283	ORPHA:654
9646	CTR9	HP:0001824	Weight loss	HP:0040283	ORPHA:654
9646	CTR9	HP:0012587	Macroscopic hematuria	HP:0040282	ORPHA:654
9652	SKIC3	HP:0001194	Abnormalities of placenta or umbilical cord	-	OMIM:222470
9652	SKIC3	HP:0025156	Dependency on intravenous nutrition	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0009891	Underdeveloped supraorbital ridges	-	OMIM:222470
9652	SKIC3	HP:0008551	Microtia	-	OMIM:222470
9652	SKIC3	HP:0009886	Trichorrhexis nodosa	22/22	OMIM:222470
9652	SKIC3	HP:0009886	Trichorrhexis nodosa	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0002583	Colitis	HP:0040283	ORPHA:84064
9652	SKIC3	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0000089	Renal hypoplasia	HP:0040284	ORPHA:84064
9652	SKIC3	HP:0001396	Cholestasis	-	OMIM:222470
9652	SKIC3	HP:0001399	Hepatic failure	-	OMIM:222470
9652	SKIC3	HP:0001392	Abnormality of the liver	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0001395	Hepatic fibrosis	14/27	OMIM:222470
9652	SKIC3	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0001394	Cirrhosis	-	OMIM:222470
9652	SKIC3	HP:0001394	Cirrhosis	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0012023	Galactosuria	2/2	OMIM:222470
9652	SKIC3	HP:0012024	Hypergalactosemia	0/2	OMIM:222470
9652	SKIC3	HP:0000047	Hypospadias	3/20	OMIM:222470
9652	SKIC3	HP:0000023	Inguinal hernia	HP:0040284	ORPHA:84064
9652	SKIC3	HP:0007513	Generalized hypopigmentation	1/12	OMIM:222470
9652	SKIC3	HP:0007513	Generalized hypopigmentation	HP:0040284	ORPHA:84064
9652	SKIC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:222470
9652	SKIC3	HP:0000193	Bifid uvula	-	OMIM:222470
9652	SKIC3	HP:0000160	Narrow mouth	-	OMIM:222470
9652	SKIC3	HP:0000154	Wide mouth	-	OMIM:222470
9652	SKIC3	HP:0006267	Large placenta	-	OMIM:222470
9652	SKIC3	HP:0000113	Polycystic kidney dysplasia	HP:0040284	ORPHA:84064
9652	SKIC3	HP:0002719	Recurrent infections	HP:0040283	ORPHA:84064
9652	SKIC3	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:84064
9652	SKIC3	HP:0002007	Frontal bossing	-	OMIM:222470
9652	SKIC3	HP:0100543	Cognitive impairment	-	OMIM:222470
9652	SKIC3	HP:0002041	Intractable diarrhea	HP:0040281	ORPHA:84064
9652	SKIC3	HP:0002041	Intractable diarrhea	12/12	OMIM:222470
9652	SKIC3	HP:0003452	Increased circulating iron concentration	-	OMIM:222470
9652	SKIC3	HP:0004734	Renal cortical microcysts	-	OMIM:222470
9652	SKIC3	HP:0011877	Increased mean platelet volume	5/11	OMIM:222470
9652	SKIC3	HP:0011877	Increased mean platelet volume	HP:0040283	ORPHA:84064
9652	SKIC3	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0002240	Hepatomegaly	-	OMIM:222470
9652	SKIC3	HP:0002224	Woolly hair	-	OMIM:222470
9652	SKIC3	HP:0002224	Woolly hair	HP:0040281	ORPHA:84064
9652	SKIC3	HP:0002212	Curly hair	-	OMIM:222470
9652	SKIC3	HP:0002213	Fine hair	-	OMIM:222470
9652	SKIC3	HP:0002299	Brittle hair	-	OMIM:222470
9652	SKIC3	HP:0002299	Brittle hair	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0025085	Bloody diarrhea	HP:0040284	ORPHA:84064
9652	SKIC3	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040284	ORPHA:84064
9652	SKIC3	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:84064
9652	SKIC3	HP:0004322	Short stature	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0004322	Short stature	-	OMIM:222470
9652	SKIC3	HP:0004313	Decreased circulating immunoglobulin concentration	11/12	OMIM:222470
9652	SKIC3	HP:0003073	Hypoalbuminemia	-	OMIM:222470
9652	SKIC3	HP:0011473	Villous atrophy	32/32	OMIM:222470
9652	SKIC3	HP:0011473	Villous atrophy	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0000778	Hypoplasia of the thymus	HP:0040284	ORPHA:84064
9652	SKIC3	HP:0012758	Neurodevelopmental delay	10/16	OMIM:222470
9652	SKIC3	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1/12	OMIM:222470
9652	SKIC3	HP:0003139	Panhypogammaglobulinemia	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:84064
9652	SKIC3	HP:0003235	Hypermethioninemia	-	OMIM:222470
9652	SKIC3	HP:0000958	Dry skin	HP:0040283	ORPHA:84064
9652	SKIC3	HP:0000957	Cafe-au-lait spot	2/12	OMIM:222470
9652	SKIC3	HP:0000957	Cafe-au-lait spot	HP:0040283	ORPHA:84064
9652	SKIC3	HP:0000952	Jaundice	-	OMIM:222470
9652	SKIC3	HP:0008070	Sparse hair	-	OMIM:222470
9652	SKIC3	HP:0030056	Uncombable hair	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0002884	Hepatoblastoma	HP:0040284	ORPHA:84064
9652	SKIC3	HP:0001561	Polyhydramnios	-	OMIM:222470
9652	SKIC3	HP:0001508	Failure to thrive	-	OMIM:222470
9652	SKIC3	HP:0001518	Small for gestational age	-	OMIM:222470
9652	SKIC3	HP:0001518	Small for gestational age	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0001511	Intrauterine growth retardation	33/35	OMIM:222470
9652	SKIC3	HP:0011031	Abnormality of iron homeostasis	HP:0040283	ORPHA:84064
9652	SKIC3	HP:0011031	Abnormality of iron homeostasis	-	OMIM:222470
9652	SKIC3	HP:0005263	Gastritis	HP:0040283	ORPHA:84064
9652	SKIC3	HP:0000369	Low-set ears	-	OMIM:222470
9652	SKIC3	HP:0000343	Long philtrum	-	OMIM:222470
9652	SKIC3	HP:0000337	Broad forehead	12/12	OMIM:222470
9652	SKIC3	HP:0000337	Broad forehead	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0001647	Bicuspid aortic valve	HP:0040284	ORPHA:84064
9652	SKIC3	HP:0000316	Hypertelorism	32/32	OMIM:222470
9652	SKIC3	HP:0000316	Hypertelorism	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:84064
9652	SKIC3	HP:0001642	Pulmonic stenosis	1/12	OMIM:222470
9652	SKIC3	HP:0001659	Aortic regurgitation	2/12	OMIM:222470
9652	SKIC3	HP:0001659	Aortic regurgitation	HP:0040284	ORPHA:84064
9652	SKIC3	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:84064
9652	SKIC3	HP:0001629	Ventricular septal defect	1/12	OMIM:222470
9652	SKIC3	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:84064
9652	SKIC3	HP:0001636	Tetralogy of Fallot	1/12	OMIM:222470
9652	SKIC3	HP:0001636	Tetralogy of Fallot	HP:0040284	ORPHA:84064
9652	SKIC3	HP:0001631	Atrial septal defect	HP:0040284	ORPHA:84064
9652	SKIC3	HP:0001732	Abnormality of the pancreas	-	OMIM:222470
9652	SKIC3	HP:0000494	Downslanted palpebral fissures	-	OMIM:222470
9652	SKIC3	HP:0000463	Anteverted nares	-	OMIM:222470
9652	SKIC3	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0000457	Depressed nasal ridge	-	OMIM:222470
9652	SKIC3	HP:0000445	Wide nose	-	OMIM:222470
9652	SKIC3	HP:0001744	Splenomegaly	HP:0040284	ORPHA:84064
9652	SKIC3	HP:0001744	Splenomegaly	2/9	OMIM:222470
9652	SKIC3	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0000520	Proptosis	-	OMIM:222470
9652	SKIC3	HP:0000501	Glaucoma	HP:0040284	ORPHA:84064
9652	SKIC3	HP:0001894	Thrombocytosis	4/11	OMIM:222470
9652	SKIC3	HP:0001894	Thrombocytosis	HP:0040283	ORPHA:84064
9652	SKIC3	HP:0011220	Prominent forehead	20/20	OMIM:222470
9652	SKIC3	HP:0011220	Prominent forehead	HP:0040282	ORPHA:84064
9652	SKIC3	HP:0001888	Decreased total lymphocyte count	HP:0040283	ORPHA:84064
9653	HS2ST1	HP:0001134	Anterior polar cataract	1/4	OMIM:619194
9653	HS2ST1	HP:0010958	Bilateral renal agenesis	1/4	OMIM:619194
9653	HS2ST1	HP:0009907	Attached earlobe	1/4	OMIM:619194
9653	HS2ST1	HP:0009890	High anterior hairline	1/4	OMIM:619194
9653	HS2ST1	HP:0009899	Prominent crus of helix	1/4	OMIM:619194
9653	HS2ST1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9653	HS2ST1	HP:0001293	Cranial nerve compression	-	OMIM:131300
9653	HS2ST1	HP:0001276	Hypertonia	1/4	OMIM:619194
9653	HS2ST1	HP:0001274	Agenesis of corpus callosum	1/4	OMIM:619194
9653	HS2ST1	HP:0001270	Motor delay	2/2	OMIM:619194
9653	HS2ST1	HP:0001252	Hypotonia	2/4	OMIM:619194
9653	HS2ST1	HP:0001252	Hypotonia	2/7	OMIM:615777
9653	HS2ST1	HP:0001249	Intellectual disability	2/2	OMIM:619194
9653	HS2ST1	HP:0001249	Intellectual disability	5/7	OMIM:615777
9653	HS2ST1	HP:0001263	Global developmental delay	2/2	OMIM:619194
9653	HS2ST1	HP:0001263	Global developmental delay	-	OMIM:615777
9653	HS2ST1	HP:0002558	Supernumerary nipple	1/4	OMIM:619194
9653	HS2ST1	HP:0002515	Waddling gait	54/102	OMIM:131300
9653	HS2ST1	HP:0000072	Hydroureter	1/4	OMIM:619194
9653	HS2ST1	HP:0001382	Joint hypermobility	-	OMIM:615777
9653	HS2ST1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9653	HS2ST1	HP:0000028	Cryptorchidism	1/2	OMIM:619194
9653	HS2ST1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9653	HS2ST1	HP:0008873	Disproportionate short-limb short stature	1/4	OMIM:619194
9653	HS2ST1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9653	HS2ST1	HP:0001324	Muscle weakness	40/96	OMIM:131300
9653	HS2ST1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9653	HS2ST1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9653	HS2ST1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619194
9653	HS2ST1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9653	HS2ST1	HP:0002650	Scoliosis	2/4	OMIM:619194
9653	HS2ST1	HP:0002650	Scoliosis	12/14	OMIM:131300
9653	HS2ST1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9653	HS2ST1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9653	HS2ST1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9653	HS2ST1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9653	HS2ST1	HP:0000158	Macroglossia	1/4	OMIM:619194
9653	HS2ST1	HP:0000176	Submucous cleft hard palate	1/4	OMIM:619194
9653	HS2ST1	HP:0000175	Cleft palate	2/7	OMIM:615777
9653	HS2ST1	HP:0000154	Wide mouth	3/4	OMIM:619194
9653	HS2ST1	HP:0007676	Hypoplasia of the iris	1/4	OMIM:619194
9653	HS2ST1	HP:0000122	Unilateral renal agenesis	2/4	OMIM:619194
9653	HS2ST1	HP:0002002	Deep philtrum	2/4	OMIM:619194
9653	HS2ST1	HP:0002079	Hypoplasia of the corpus callosum	1/4	OMIM:619194
9653	HS2ST1	HP:0003388	Easy fatigability	36/76	OMIM:131300
9653	HS2ST1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9653	HS2ST1	HP:0011927	Short digit	2/4	OMIM:619194
9653	HS2ST1	HP:0002188	Delayed CNS myelination	1/4	OMIM:619194
9653	HS2ST1	HP:0003577	Congenital onset	4/4	OMIM:619194
9653	HS2ST1	HP:0011968	Feeding difficulties	2/3	OMIM:619194
9653	HS2ST1	HP:0003510	Severe short stature	7/7	OMIM:615777
9653	HS2ST1	HP:0002315	Headache	-	OMIM:131300
9653	HS2ST1	HP:0004976	Knee dislocation	6/7	OMIM:615777
9653	HS2ST1	HP:0009836	Broad distal phalanx of finger	2/4	OMIM:619194
9653	HS2ST1	HP:0009803	Short phalanx of finger	-	OMIM:615777
9653	HS2ST1	HP:0009763	Limb pain	63/92	OMIM:131300
9653	HS2ST1	HP:0003621	Juvenile onset	-	OMIM:131300
9653	HS2ST1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9653	HS2ST1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9653	HS2ST1	HP:6001056	Out-toeing	-	OMIM:131300
9653	HS2ST1	HP:0000651	Diplopia	-	OMIM:131300
9653	HS2ST1	HP:0000627	Posterior embryotoxon	1/4	OMIM:619194
9653	HS2ST1	HP:0000629	Periorbital fullness	1/4	OMIM:619194
9653	HS2ST1	HP:0001956	Truncal obesity	2/7	OMIM:615777
9653	HS2ST1	HP:0001903	Anemia	HP:0040283	OMIM:131300
9653	HS2ST1	HP:0010049	Short metacarpal	-	OMIM:615777
9653	HS2ST1	HP:0000678	Dental crowding	-	OMIM:615777
9653	HS2ST1	HP:0000691	Microdontia	1/1	OMIM:619194
9653	HS2ST1	HP:0000670	Carious teeth	-	OMIM:131300
9653	HS2ST1	HP:0011304	Broad thumb	2/7	OMIM:615777
9653	HS2ST1	HP:0000668	Hypodontia	-	OMIM:615777
9653	HS2ST1	HP:0000664	Synophrys	-	OMIM:615777
9653	HS2ST1	HP:0010186	Broad distal phalanx of the toes	2/4	OMIM:619194
9653	HS2ST1	HP:0004396	Poor appetite	-	OMIM:131300
9653	HS2ST1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9653	HS2ST1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9653	HS2ST1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9653	HS2ST1	HP:0003026	Short long bone	7/7	OMIM:615777
9653	HS2ST1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9653	HS2ST1	HP:0000767	Pectus excavatum	1/4	OMIM:619194
9653	HS2ST1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9653	HS2ST1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9653	HS2ST1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9653	HS2ST1	HP:0000750	Delayed speech and language development	2/2	OMIM:619194
9653	HS2ST1	HP:0000750	Delayed speech and language development	-	OMIM:615777
9653	HS2ST1	HP:0011461	Fetal onset	7/7	OMIM:615777
9653	HS2ST1	HP:0000774	Narrow chest	2/7	OMIM:615777
9653	HS2ST1	HP:0000926	Platyspondyly	1/7	OMIM:615777
9653	HS2ST1	HP:0003180	Flat acetabular roof	-	OMIM:615777
9653	HS2ST1	HP:0004482	Relative macrocephaly	-	OMIM:615777
9653	HS2ST1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9653	HS2ST1	HP:0003090	Hypoplasia of the capital femoral epiphysis	2/4	OMIM:619194
9653	HS2ST1	HP:0000823	Delayed puberty	-	OMIM:131300
9653	HS2ST1	HP:0010282	Thin lower lip vermilion	1/4	OMIM:619194
9653	HS2ST1	HP:0000894	Short clavicles	-	OMIM:615777
9653	HS2ST1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9653	HS2ST1	HP:0003273	Hip contracture	3/4	OMIM:619194
9653	HS2ST1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9653	HS2ST1	HP:0000286	Epicanthus	1/4	OMIM:619194
9653	HS2ST1	HP:0000286	Epicanthus	1/7	OMIM:615777
9653	HS2ST1	HP:0000280	Coarse facial features	3/4	OMIM:619194
9653	HS2ST1	HP:0000280	Coarse facial features	2/7	OMIM:615777
9653	HS2ST1	HP:0000278	Retrognathia	1/4	OMIM:619194
9653	HS2ST1	HP:0002827	Hip dislocation	3/7	OMIM:615777
9653	HS2ST1	HP:0002808	Kyphosis	2/4	OMIM:619194
9653	HS2ST1	HP:0006380	Knee flexion contracture	2/4	OMIM:619194
9653	HS2ST1	HP:0000252	Microcephaly	-	OMIM:615777
9653	HS2ST1	HP:0000219	Thin upper lip vermilion	2/4	OMIM:619194
9653	HS2ST1	HP:0001562	Oligohydramnios	1/4	OMIM:619194
9653	HS2ST1	HP:0002857	Genu valgum	-	OMIM:131300
9653	HS2ST1	HP:0002857	Genu valgum	1/4	OMIM:619194
9653	HS2ST1	HP:0001533	Slender build	-	OMIM:131300
9653	HS2ST1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9653	HS2ST1	HP:0007807	Optic nerve compression	-	OMIM:131300
9653	HS2ST1	HP:0012368	Flat face	7/7	OMIM:615777
9653	HS2ST1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9653	HS2ST1	HP:0000365	Hearing impairment	10/67	OMIM:131300
9653	HS2ST1	HP:0000358	Posteriorly rotated ears	2/4	OMIM:619194
9653	HS2ST1	HP:0000369	Low-set ears	3/4	OMIM:619194
9653	HS2ST1	HP:0000341	Narrow forehead	2/4	OMIM:619194
9653	HS2ST1	HP:0000343	Long philtrum	1/7	OMIM:615777
9653	HS2ST1	HP:0011001	Increased bone mineral density	-	OMIM:131300
9653	HS2ST1	HP:0000316	Hypertelorism	1/4	OMIM:619194
9653	HS2ST1	HP:0000311	Round face	2/7	OMIM:615777
9653	HS2ST1	HP:0002987	Elbow flexion contracture	3/4	OMIM:619194
9653	HS2ST1	HP:0002970	Genu varum	-	OMIM:615777
9653	HS2ST1	HP:0000307	Pointed chin	1/4	OMIM:619194
9653	HS2ST1	HP:0000303	Mandibular prognathia	-	OMIM:131300
9653	HS2ST1	HP:0005306	Capillary hemangioma	1/4	OMIM:619194
9653	HS2ST1	HP:0000407	Sensorineural hearing impairment	1/3	OMIM:619194
9653	HS2ST1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9653	HS2ST1	HP:0012450	Chronic constipation	1/4	OMIM:619194
9653	HS2ST1	HP:0000455	Broad nasal tip	2/4	OMIM:619194
9653	HS2ST1	HP:0000470	Short neck	1/4	OMIM:619194
9653	HS2ST1	HP:0000470	Short neck	1/7	OMIM:615777
9653	HS2ST1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9653	HS2ST1	HP:0001763	Pes planus	1/7	OMIM:615777
9653	HS2ST1	HP:0000431	Wide nasal bridge	1/4	OMIM:619194
9653	HS2ST1	HP:0001840	Metatarsus adductus	-	OMIM:615777
9653	HS2ST1	HP:0000520	Proptosis	2/4	OMIM:131300
9653	HS2ST1	HP:0000520	Proptosis	7/7	OMIM:615777
9653	HS2ST1	HP:0000582	Upslanted palpebral fissure	3/4	OMIM:619194
9653	HS2ST1	HP:0000592	Blue sclerae	2/7	OMIM:615777
9653	HS2ST1	HP:0011232	Infra-orbital fold	1/4	OMIM:619194
9653	HS2ST1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9653	HS2ST1	HP:0012514	Lower limb pain	4/4	OMIM:131300
9657	IQCB1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
9657	IQCB1	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
9657	IQCB1	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:609254
9657	IQCB1	HP:0003774	Stage 5 chronic kidney disease	HP:0040281	ORPHA:3156
9657	IQCB1	HP:0001270	Motor delay	HP:0040283	ORPHA:65
9657	IQCB1	HP:0001250	Seizure	HP:0040282	ORPHA:65
9657	IQCB1	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
9657	IQCB1	HP:0001251	Ataxia	HP:0040283	ORPHA:3156
9657	IQCB1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
9657	IQCB1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3156
9657	IQCB1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
9657	IQCB1	HP:0000090	Nephronophthisis	HP:0040282	ORPHA:3156
9657	IQCB1	HP:0000090	Nephronophthisis	-	OMIM:609254
9657	IQCB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:609254
9657	IQCB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
9657	IQCB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
9657	IQCB1	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:3156
9657	IQCB1	HP:0001483	Eye poking	HP:0040282	ORPHA:65
9657	IQCB1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
9657	IQCB1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
9657	IQCB1	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
9657	IQCB1	HP:0008209	Premature ovarian insufficiency	HP:0040282	ORPHA:3156
9657	IQCB1	HP:0010579	Cone-shaped epiphysis	HP:0040283	ORPHA:3156
9657	IQCB1	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
9657	IQCB1	HP:0003621	Juvenile onset	8/19	OMIM:180100
9657	IQCB1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
9657	IQCB1	HP:0012622	Chronic kidney disease	HP:0040281	ORPHA:3156
9657	IQCB1	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
9657	IQCB1	HP:0000613	Photophobia	HP:0040282	ORPHA:65
9657	IQCB1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
9657	IQCB1	HP:0000662	Nyctalopia	26/28	OMIM:180100
9657	IQCB1	HP:0004322	Short stature	HP:0040281	ORPHA:3156
9657	IQCB1	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
9657	IQCB1	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:3156
9657	IQCB1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
9657	IQCB1	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
9657	IQCB1	HP:0011463	Childhood onset	3/19	OMIM:180100
9657	IQCB1	HP:0011462	Young adult onset	8/19	OMIM:180100
9657	IQCB1	HP:0000822	Hypertension	HP:0040281	ORPHA:3156
9657	IQCB1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
9657	IQCB1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:3156
9657	IQCB1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
9657	IQCB1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
9657	IQCB1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
9657	IQCB1	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
9657	IQCB1	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
9657	IQCB1	HP:0000518	Cataract	HP:0040283	ORPHA:3156
9657	IQCB1	HP:0000518	Cataract	HP:0040282	ORPHA:65
9657	IQCB1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
9657	IQCB1	HP:0000510	Rod-cone dystrophy	-	OMIM:609254
9657	IQCB1	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
9657	IQCB1	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:3156
9657	IQCB1	HP:0000505	Visual impairment	HP:0040281	ORPHA:3156
9657	IQCB1	HP:0000575	Scotoma	5/18	OMIM:180100
9657	IQCB1	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
9657	IQCB1	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:3156
9657	IQCB1	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
9657	IQCB1	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
9657	IQCB1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
9657	IQCB1	HP:0000545	Myopia	-	OMIM:180100
9662	CEP135	HP:0010864	Intellectual disability, severe	2/2	OMIM:614673
9662	CEP135	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
9662	CEP135	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
9662	CEP135	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
9662	CEP135	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
9662	CEP135	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
9662	CEP135	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
9662	CEP135	HP:0000007	Autosomal recessive inheritance	-	OMIM:614673
9662	CEP135	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
9662	CEP135	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
9662	CEP135	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
9662	CEP135	HP:0003577	Congenital onset	2/2	OMIM:614673
9662	CEP135	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
9662	CEP135	HP:0004322	Short stature	HP:0040281	ORPHA:2512
9662	CEP135	HP:0011451	Primary microcephaly	2/2	OMIM:614673
9662	CEP135	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
9662	CEP135	HP:0000278	Retrognathia	-	OMIM:614673
9662	CEP135	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
9662	CEP135	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
9662	CEP135	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
9662	CEP135	HP:0000340	Sloping forehead	2/2	OMIM:614673
9662	CEP135	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
9662	CEP135	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
9663	LPIN2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9663	LPIN2	HP:0001293	Cranial nerve compression	-	OMIM:131300
9663	LPIN2	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:77297
9663	LPIN2	HP:0001252	Hypotonia	2/7	OMIM:615777
9663	LPIN2	HP:0001249	Intellectual disability	5/7	OMIM:615777
9663	LPIN2	HP:0001263	Global developmental delay	-	OMIM:615777
9663	LPIN2	HP:0010972	Anemia of inadequate production	-	OMIM:609628
9663	LPIN2	HP:0002515	Waddling gait	54/102	OMIM:131300
9663	LPIN2	HP:0000093	Proteinuria	HP:0040283	ORPHA:77297
9663	LPIN2	HP:0001371	Flexion contracture	-	OMIM:609628
9663	LPIN2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:77297
9663	LPIN2	HP:0001386	Joint swelling	2/2	OMIM:609628
9663	LPIN2	HP:0001382	Joint hypermobility	-	OMIM:615777
9663	LPIN2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9663	LPIN2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9663	LPIN2	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:77297
9663	LPIN2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9663	LPIN2	HP:0001324	Muscle weakness	40/96	OMIM:131300
9663	LPIN2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9663	LPIN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9663	LPIN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:609628
9663	LPIN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9663	LPIN2	HP:0002653	Bone pain	6/6	OMIM:609628
9663	LPIN2	HP:0002653	Bone pain	HP:0040281	ORPHA:77297
9663	LPIN2	HP:0002650	Scoliosis	12/14	OMIM:131300
9663	LPIN2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9663	LPIN2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9663	LPIN2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9663	LPIN2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9663	LPIN2	HP:0000175	Cleft palate	2/7	OMIM:615777
9663	LPIN2	HP:0012132	Erythroid hyperplasia	11/11	OMIM:609628
9663	LPIN2	HP:0002754	Osteomyelitis	-	OMIM:609628
9663	LPIN2	HP:0002754	Osteomyelitis	HP:0040281	ORPHA:77297
9663	LPIN2	HP:0001433	Hepatosplenomegaly	5/6	OMIM:609628
9663	LPIN2	HP:0002750	Delayed skeletal maturation	4/4	OMIM:609628
9663	LPIN2	HP:0002024	Malabsorption	HP:0040283	ORPHA:77297
9663	LPIN2	HP:0003326	Myalgia	HP:0040282	ORPHA:77297
9663	LPIN2	HP:0003388	Easy fatigability	36/76	OMIM:131300
9663	LPIN2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9663	LPIN2	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:77297
9663	LPIN2	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:77297
9663	LPIN2	HP:0003565	Elevated erythrocyte sedimentation rate	6/6	OMIM:609628
9663	LPIN2	HP:0100769	Synovitis	HP:0040282	ORPHA:77297
9663	LPIN2	HP:0003510	Severe short stature	7/7	OMIM:615777
9663	LPIN2	HP:0004840	Hypochromic microcytic anemia	HP:0040281	ORPHA:77297
9663	LPIN2	HP:0004810	Congenital hypoplastic anemia	HP:0040281	ORPHA:77297
9663	LPIN2	HP:0001061	Acne	HP:0040282	ORPHA:77297
9663	LPIN2	HP:0002315	Headache	-	OMIM:131300
9663	LPIN2	HP:0002315	Headache	HP:0040282	ORPHA:77297
9663	LPIN2	HP:0004976	Knee dislocation	6/7	OMIM:615777
9663	LPIN2	HP:0200034	Papule	HP:0040281	ORPHA:77297
9663	LPIN2	HP:0025066	Decreased mean corpuscular volume	-	OMIM:609628
9663	LPIN2	HP:0200039	Pustule	HP:0040281	ORPHA:77297
9663	LPIN2	HP:0009803	Short phalanx of finger	-	OMIM:615777
9663	LPIN2	HP:0009763	Limb pain	63/92	OMIM:131300
9663	LPIN2	HP:0003621	Juvenile onset	-	OMIM:131300
9663	LPIN2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9663	LPIN2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9663	LPIN2	HP:0005561	Abnormal bone marrow cell morphology	HP:0040281	ORPHA:77297
9663	LPIN2	HP:6001056	Out-toeing	-	OMIM:131300
9663	LPIN2	HP:0000651	Diplopia	-	OMIM:131300
9663	LPIN2	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:77297
9663	LPIN2	HP:0001945	Fever	HP:0040281	ORPHA:77297
9663	LPIN2	HP:0001954	Recurrent fever	6/6	OMIM:609628
9663	LPIN2	HP:0001956	Truncal obesity	2/7	OMIM:615777
9663	LPIN2	HP:0001935	Microcytic anemia	1/2	OMIM:609628
9663	LPIN2	HP:0001903	Anemia	HP:0040283	OMIM:131300
9663	LPIN2	HP:0010049	Short metacarpal	-	OMIM:615777
9663	LPIN2	HP:0000678	Dental crowding	-	OMIM:615777
9663	LPIN2	HP:0012647	Abnormal inflammatory response	HP:0040281	ORPHA:77297
9663	LPIN2	HP:0000670	Carious teeth	-	OMIM:131300
9663	LPIN2	HP:0011304	Broad thumb	2/7	OMIM:615777
9663	LPIN2	HP:0000668	Hypodontia	-	OMIM:615777
9663	LPIN2	HP:0000664	Synophrys	-	OMIM:615777
9663	LPIN2	HP:0004326	Cachexia	HP:0040281	ORPHA:77297
9663	LPIN2	HP:0004396	Poor appetite	-	OMIM:131300
9663	LPIN2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9663	LPIN2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9663	LPIN2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9663	LPIN2	HP:0003026	Short long bone	7/7	OMIM:615777
9663	LPIN2	HP:0003025	Metaphyseal irregularity	HP:0040281	ORPHA:77297
9663	LPIN2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9663	LPIN2	HP:0012735	Cough	HP:0040283	ORPHA:77297
9663	LPIN2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9663	LPIN2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9663	LPIN2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9663	LPIN2	HP:0000750	Delayed speech and language development	-	OMIM:615777
9663	LPIN2	HP:0011461	Fetal onset	7/7	OMIM:615777
9663	LPIN2	HP:0000774	Narrow chest	2/7	OMIM:615777
9663	LPIN2	HP:0000926	Platyspondyly	1/7	OMIM:615777
9663	LPIN2	HP:0003180	Flat acetabular roof	-	OMIM:615777
9663	LPIN2	HP:0004482	Relative macrocephaly	-	OMIM:615777
9663	LPIN2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9663	LPIN2	HP:0000823	Delayed puberty	1/2	OMIM:609628
9663	LPIN2	HP:0000823	Delayed puberty	-	OMIM:131300
9663	LPIN2	HP:0000894	Short clavicles	-	OMIM:615777
9663	LPIN2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9663	LPIN2	HP:0000988	Skin rash	2/6	OMIM:609628
9663	LPIN2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9663	LPIN2	HP:0000969	Edema	HP:0040282	ORPHA:77297
9663	LPIN2	HP:0000286	Epicanthus	1/7	OMIM:615777
9663	LPIN2	HP:0000280	Coarse facial features	2/7	OMIM:615777
9663	LPIN2	HP:0002829	Arthralgia	6/6	OMIM:609628
9663	LPIN2	HP:0002829	Arthralgia	HP:0040281	ORPHA:77297
9663	LPIN2	HP:0002827	Hip dislocation	3/7	OMIM:615777
9663	LPIN2	HP:0000252	Microcephaly	-	OMIM:615777
9663	LPIN2	HP:0002857	Genu valgum	-	OMIM:131300
9663	LPIN2	HP:0001533	Slender build	-	OMIM:131300
9663	LPIN2	HP:0001508	Failure to thrive	4/4	OMIM:609628
9663	LPIN2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:77297
9663	LPIN2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9663	LPIN2	HP:0001510	Growth delay	-	OMIM:609628
9663	LPIN2	HP:0007807	Optic nerve compression	-	OMIM:131300
9663	LPIN2	HP:0012368	Flat face	7/7	OMIM:615777
9663	LPIN2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9663	LPIN2	HP:0002907	Microscopic hematuria	HP:0040283	ORPHA:77297
9663	LPIN2	HP:0000365	Hearing impairment	10/67	OMIM:131300
9663	LPIN2	HP:0000343	Long philtrum	1/7	OMIM:615777
9663	LPIN2	HP:0011001	Increased bone mineral density	HP:0040282	ORPHA:77297
9663	LPIN2	HP:0011001	Increased bone mineral density	-	OMIM:131300
9663	LPIN2	HP:0000311	Round face	2/7	OMIM:615777
9663	LPIN2	HP:0002970	Genu varum	-	OMIM:615777
9663	LPIN2	HP:0000303	Mandibular prognathia	-	OMIM:131300
9663	LPIN2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9663	LPIN2	HP:0011123	Inflammatory abnormality of the skin	-	OMIM:609628
9663	LPIN2	HP:0011123	Inflammatory abnormality of the skin	HP:0040283	ORPHA:77297
9663	LPIN2	HP:0000470	Short neck	1/7	OMIM:615777
9663	LPIN2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9663	LPIN2	HP:0001763	Pes planus	1/7	OMIM:615777
9663	LPIN2	HP:0001744	Splenomegaly	HP:0040282	ORPHA:77297
9663	LPIN2	HP:0001840	Metatarsus adductus	-	OMIM:615777
9663	LPIN2	HP:0000520	Proptosis	2/4	OMIM:131300
9663	LPIN2	HP:0000520	Proptosis	7/7	OMIM:615777
9663	LPIN2	HP:0001824	Weight loss	HP:0040281	ORPHA:77297
9663	LPIN2	HP:0000592	Blue sclerae	2/7	OMIM:615777
9663	LPIN2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9663	LPIN2	HP:0012514	Lower limb pain	4/4	OMIM:131300
9672	SDC3	HP:0010982	Polygenic inheritance	-	OMIM:601665
9672	SDC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:601665
9672	SDC3	HP:0000006	Autosomal dominant inheritance	-	OMIM:601665
9672	SDC3	HP:0031819	Increased waist to hip ratio	-	OMIM:601665
9672	SDC3	HP:0001513	Obesity	-	OMIM:601665
9672	SDC3	HP:0012340	Decreased resting energy expenditure	-	OMIM:601665
9675	TTI1	HP:0001250	Seizure	4/11	OMIM:620445
9675	TTI1	HP:0001252	Hypotonia	5/11	OMIM:620445
9675	TTI1	HP:0001249	Intellectual disability	9/9	OMIM:620445
9675	TTI1	HP:0001263	Global developmental delay	11/11	OMIM:620445
9675	TTI1	HP:0007380	Facial telangiectasia	1/11	OMIM:620445
9675	TTI1	HP:0002515	Waddling gait	2/11	OMIM:620445
9675	TTI1	HP:0000076	Vesicoureteral reflux	2/7	OMIM:620445
9675	TTI1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620445
9675	TTI1	HP:0002650	Scoliosis	5/10	OMIM:620445
9675	TTI1	HP:0002066	Gait ataxia	3/11	OMIM:620445
9675	TTI1	HP:0002061	Lower limb spasticity	4/11	OMIM:620445
9675	TTI1	HP:0002072	Chorea	6/22	OMIM:620445
9675	TTI1	HP:0003593	Infantile onset	-	OMIM:620445
9675	TTI1	HP:0100704	Cerebral visual impairment	1/11	OMIM:620445
9675	TTI1	HP:0100710	Impulsivity	1/11	OMIM:620445
9675	TTI1	HP:0002216	Premature graying of hair	1/11	OMIM:620445
9675	TTI1	HP:0002307	Drooling	1/11	OMIM:620445
9675	TTI1	HP:0000687	Widely spaced teeth	1/11	OMIM:620445
9675	TTI1	HP:0004322	Short stature	8/11	OMIM:620445
9675	TTI1	HP:0031936	Delayed ability to walk	9/11	OMIM:620445
9675	TTI1	HP:0000752	Hyperactivity	1/11	OMIM:620445
9675	TTI1	HP:0000771	Gynecomastia	2/6	OMIM:620445
9675	TTI1	HP:0000750	Delayed speech and language development	11/11	OMIM:620445
9675	TTI1	HP:0000749	Paroxysmal bursts of laughter	1/11	OMIM:620445
9675	TTI1	HP:0000742	Self-mutilation	1/11	OMIM:620445
9675	TTI1	HP:0034373	External tibial torsion	1/10	OMIM:620445
9675	TTI1	HP:0002812	Coxa vara	1/10	OMIM:620445
9675	TTI1	HP:0000252	Microcephaly	9/11	OMIM:620445
9675	TTI1	HP:0000369	Low-set ears	1/11	OMIM:620445
9675	TTI1	HP:0000319	Smooth philtrum	3/11	OMIM:620445
9675	TTI1	HP:0002970	Genu varum	1/10	OMIM:620445
9675	TTI1	HP:0000486	Strabismus	6/11	OMIM:620445
9675	TTI1	HP:0001772	Talipes equinovalgus	1/10	OMIM:620445
9675	TTI1	HP:0000565	Esotropia	2/11	OMIM:620445
9681	DEPDC5	HP:0002427	Expressive aphasia	HP:0040283	ORPHA:98820
9681	DEPDC5	HP:0100806	Sepsis	1/1	OMIM:620504
9681	DEPDC5	HP:0025237	Confusional arousal	HP:0040283	ORPHA:98784
9681	DEPDC5	HP:0025236	Somnambulism	HP:0040283	ORPHA:98784
9681	DEPDC5	HP:0025235	NREM parasomnia	HP:0040284	ORPHA:98784
9681	DEPDC5	HP:0001256	Intellectual disability, mild	HP:0040284	ORPHA:98784
9681	DEPDC5	HP:0001250	Seizure	-	OMIM:604364
9681	DEPDC5	HP:0001249	Intellectual disability	-	ORPHA:101046
9681	DEPDC5	HP:0001249	Intellectual disability	HP:0040283	OMIM:604364
9681	DEPDC5	HP:0001249	Intellectual disability	HP:0040283	ORPHA:98820
9681	DEPDC5	HP:0008765	Auditory hallucination	HP:0040281	ORPHA:101046
9681	DEPDC5	HP:0008765	Auditory hallucination	HP:0040283	ORPHA:98820
9681	DEPDC5	HP:0410263	Brain imaging abnormality	-	ORPHA:101046
9681	DEPDC5	HP:0007359	Focal-onset seizure	HP:0040281	ORPHA:98820
9681	DEPDC5	HP:0007359	Focal-onset seizure	1/1	OMIM:620504
9681	DEPDC5	HP:0007359	Focal-onset seizure	HP:0040281	ORPHA:101046
9681	DEPDC5	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040284	ORPHA:101046
9681	DEPDC5	HP:0002521	Hypsarrhythmia	HP:0040284	ORPHA:98820
9681	DEPDC5	HP:0003829	Typified by incomplete penetrance	-	OMIM:604364
9681	DEPDC5	HP:0025373	Interictal EEG abnormality	HP:0040282	ORPHA:98820
9681	DEPDC5	HP:0000023	Inguinal hernia	1/1	OMIM:620504
9681	DEPDC5	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:98784
9681	DEPDC5	HP:0012005	Deja vu aura	HP:0040283	ORPHA:98820
9681	DEPDC5	HP:0001345	Psychotic mentation	HP:0040284	ORPHA:98784
9681	DEPDC5	HP:0000028	Cryptorchidism	1/1	OMIM:620504
9681	DEPDC5	HP:0031165	Multifocal seizures	4/7	OMIM:620504
9681	DEPDC5	HP:0033725	Thin corpus callosum	2/8	OMIM:620504
9681	DEPDC5	HP:0000007	Autosomal recessive inheritance	-	OMIM:620504
9681	DEPDC5	HP:0000006	Autosomal dominant inheritance	-	OMIM:604364
9681	DEPDC5	HP:0031284	Flushing	HP:0040283	ORPHA:98820
9681	DEPDC5	HP:0012110	Hypoplasia of the pons	3/8	OMIM:620504
9681	DEPDC5	HP:0002007	Frontal bossing	6/7	OMIM:620504
9681	DEPDC5	HP:0011800	Midface retrusion	1/7	OMIM:620504
9681	DEPDC5	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:98820
9681	DEPDC5	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:98784
9681	DEPDC5	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:98820
9681	DEPDC5	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:620504
9681	DEPDC5	HP:0002069	Bilateral tonic-clonic seizure	HP:0040284	ORPHA:101046
9681	DEPDC5	HP:0002069	Bilateral tonic-clonic seizure	HP:0040284	ORPHA:98784
9681	DEPDC5	HP:0002076	Migraine	HP:0040284	ORPHA:101046
9681	DEPDC5	HP:0011703	Sinus tachycardia	1/1	OMIM:620504
9681	DEPDC5	HP:0002126	Polymicrogyria	HP:0040284	ORPHA:98820
9681	DEPDC5	HP:0002126	Polymicrogyria	5/8	OMIM:620504
9681	DEPDC5	HP:0002197	Generalized-onset seizure	HP:0040284	ORPHA:101046
9681	DEPDC5	HP:0003401	Paresthesia	HP:0040283	ORPHA:98820
9681	DEPDC5	HP:0002268	Paroxysmal dystonia	HP:0040282	ORPHA:98784
9681	DEPDC5	HP:0003593	Infantile onset	3/8	OMIM:620504
9681	DEPDC5	HP:0003577	Congenital onset	1/8	OMIM:620504
9681	DEPDC5	HP:0100710	Impulsivity	HP:0040284	ORPHA:101046
9681	DEPDC5	HP:0002205	Recurrent respiratory infections	1/1	OMIM:620504
9681	DEPDC5	HP:0200128	Biventricular hypertrophy	1/1	OMIM:620504
9681	DEPDC5	HP:0007018	Attention deficit hyperactivity disorder	HP:0040284	ORPHA:98784
9681	DEPDC5	HP:0011968	Feeding difficulties	2/8	OMIM:620504
9681	DEPDC5	HP:0032046	Focal cortical dysplasia	-	OMIM:604364
9681	DEPDC5	HP:0032046	Focal cortical dysplasia	HP:0040283	ORPHA:98820
9681	DEPDC5	HP:0032047	Focal cortical dysplasia type I	2/7	OMIM:604364
9681	DEPDC5	HP:0032051	Focal cortical dysplasia type II	4/7	OMIM:604364
9681	DEPDC5	HP:0032052	Focal cortical dysplasia type IIa	2/7	OMIM:604364
9681	DEPDC5	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:98820
9681	DEPDC5	HP:0002381	Aphasia	HP:0040282	ORPHA:101046
9681	DEPDC5	HP:0002367	Visual hallucination	HP:0040283	ORPHA:101046
9681	DEPDC5	HP:0002367	Visual hallucination	HP:0040283	ORPHA:98820
9681	DEPDC5	HP:0002349	Focal aware seizure	HP:0040283	ORPHA:101046
9681	DEPDC5	HP:0002349	Focal aware seizure	HP:0040283	ORPHA:98820
9681	DEPDC5	HP:0010841	Multifocal epileptiform discharges	HP:0040283	ORPHA:98820
9681	DEPDC5	HP:0007206	Hemimegalencephaly	-	OMIM:604364
9681	DEPDC5	HP:0007206	Hemimegalencephaly	HP:0040284	ORPHA:98820
9681	DEPDC5	HP:0003623	Neonatal onset	1/8	OMIM:620504
9681	DEPDC5	HP:0000646	Amblyopia	1/1	OMIM:620504
9681	DEPDC5	HP:0011344	Severe global developmental delay	7/7	OMIM:620504
9681	DEPDC5	HP:0000666	Horizontal nystagmus	1/1	OMIM:620504
9681	DEPDC5	HP:0031951	Nocturnal seizures	HP:0040281	ORPHA:98784
9681	DEPDC5	HP:0031951	Nocturnal seizures	HP:0040283	ORPHA:101046
9681	DEPDC5	HP:0031951	Nocturnal seizures	HP:0040283	OMIM:604364
9681	DEPDC5	HP:0031951	Nocturnal seizures	HP:0040282	ORPHA:98820
9681	DEPDC5	HP:0004305	Involuntary movements	HP:0040282	ORPHA:98784
9681	DEPDC5	HP:0004383	Hypoplastic left heart	1/1	OMIM:620504
9681	DEPDC5	HP:0034197	Third trimester onset	2/8	OMIM:620504
9681	DEPDC5	HP:0034198	Second trimester onset	1/8	OMIM:620504
9681	DEPDC5	HP:0000739	Anxiety	HP:0040283	ORPHA:98784
9681	DEPDC5	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:98784
9681	DEPDC5	HP:0000716	Depression	HP:0040284	ORPHA:101046
9681	DEPDC5	HP:0000716	Depression	HP:0040283	ORPHA:98784
9681	DEPDC5	HP:0000729	Autistic behavior	HP:0040283	ORPHA:98820
9681	DEPDC5	HP:0000729	Autistic behavior	HP:0040283	OMIM:604364
9681	DEPDC5	HP:0000708	Atypical behavior	HP:0040283	ORPHA:98820
9681	DEPDC5	HP:0000708	Atypical behavior	HP:0040284	ORPHA:101046
9681	DEPDC5	HP:0000708	Atypical behavior	HP:0040284	ORPHA:98784
9681	DEPDC5	HP:0000787	Nephrolithiasis	1/1	OMIM:620504
9681	DEPDC5	HP:0004415	Pulmonary artery stenosis	1/1	OMIM:620504
9681	DEPDC5	HP:0000822	Hypertension	1/1	OMIM:620504
9681	DEPDC5	HP:0000980	Pallor	HP:0040283	ORPHA:98820
9681	DEPDC5	HP:0000954	Single transverse palmar crease	1/7	OMIM:620504
9681	DEPDC5	HP:0000260	Wide anterior fontanel	2/7	OMIM:620504
9681	DEPDC5	HP:0000256	Macrocephaly	6/7	OMIM:620504
9681	DEPDC5	HP:0002883	Hyperventilation	HP:0040283	ORPHA:98784
9681	DEPDC5	HP:0032660	Convulsive status epilepticus	2/7	OMIM:620504
9681	DEPDC5	HP:0001537	Umbilical hernia	1/1	OMIM:620504
9681	DEPDC5	HP:0031535	Increased theta frequency activity in EEG	HP:0040283	ORPHA:98784
9681	DEPDC5	HP:0000369	Low-set ears	2/7	OMIM:620504
9681	DEPDC5	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101046
9681	DEPDC5	HP:0000316	Hypertelorism	1/7	OMIM:620504
9681	DEPDC5	HP:0011193	EEG with focal spikes	HP:0040283	ORPHA:98784
9681	DEPDC5	HP:0011185	EEG with focal epileptiform discharges	HP:0040281	ORPHA:101046
9681	DEPDC5	HP:0011185	EEG with focal epileptiform discharges	HP:0040281	ORPHA:98820
9681	DEPDC5	HP:0011182	Interictal epileptiform activity	HP:0040283	ORPHA:98784
9681	DEPDC5	HP:0011182	Interictal epileptiform activity	HP:0040282	ORPHA:101046
9681	DEPDC5	HP:0011174	Focal hyperkinetic seizure	HP:0040283	ORPHA:98784
9681	DEPDC5	HP:0011171	Simple febrile seizure	HP:0040284	ORPHA:98820
9681	DEPDC5	HP:0011154	Focal autonomic seizure	HP:0040283	ORPHA:101046
9681	DEPDC5	HP:0006682	Premature ventricular contraction	1/1	OMIM:620504
9681	DEPDC5	HP:0012469	Infantile spasms	HP:0040283	ORPHA:98820
9681	DEPDC5	HP:0012469	Infantile spasms	1/7	OMIM:620504
9681	DEPDC5	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:98784
9681	DEPDC5	HP:0000527	Long eyelashes	1/1	OMIM:620504
9681	DEPDC5	HP:0000505	Visual impairment	1/1	OMIM:620504
9681	DEPDC5	HP:0000574	Thick eyebrow	1/1	OMIM:620504
9681	DEPDC5	HP:0012531	Pain	HP:0040283	ORPHA:98820
9688	NUP93	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
9688	NUP93	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:616892
9688	NUP93	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
9688	NUP93	HP:0000097	Focal segmental glomerulosclerosis	5/5	OMIM:616892
9688	NUP93	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
9688	NUP93	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
9688	NUP93	HP:0000007	Autosomal recessive inheritance	-	OMIM:616892
9688	NUP93	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
9688	NUP93	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
9688	NUP93	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
9688	NUP93	HP:0003676	Progressive	-	OMIM:616892
9688	NUP93	HP:0002315	Headache	HP:0040283	ORPHA:656
9688	NUP93	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
9688	NUP93	HP:0001967	Diffuse mesangial sclerosis	-	OMIM:616892
9688	NUP93	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
9688	NUP93	HP:0001945	Fever	HP:0040283	ORPHA:656
9688	NUP93	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
9688	NUP93	HP:0000737	Irritability	HP:0040283	ORPHA:656
9688	NUP93	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
9688	NUP93	HP:0000790	Hematuria	-	OMIM:616892
9688	NUP93	HP:0000969	Edema	HP:0040281	ORPHA:656
9688	NUP93	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
9688	NUP93	HP:0012588	Steroid-resistant nephrotic syndrome	7/7	OMIM:616892
9688	NUP93	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
9690	UBE3C	HP:0002451	Limb dystonia	2/3	OMIM:620270
9690	UBE3C	HP:0010864	Intellectual disability, severe	3/3	OMIM:620270
9690	UBE3C	HP:0001270	Motor delay	3/3	OMIM:620270
9690	UBE3C	HP:0001252	Hypotonia	2/3	OMIM:620270
9690	UBE3C	HP:0001251	Ataxia	2/3	OMIM:620270
9690	UBE3C	HP:0001263	Global developmental delay	3/3	OMIM:620270
9690	UBE3C	HP:0033725	Thin corpus callosum	1/3	OMIM:620270
9690	UBE3C	HP:0000007	Autosomal recessive inheritance	-	OMIM:620270
9690	UBE3C	HP:0001337	Tremor	2/3	OMIM:620270
9690	UBE3C	HP:0001321	Cerebellar hypoplasia	1/3	OMIM:620270
9690	UBE3C	HP:0003593	Infantile onset	2/3	OMIM:620270
9690	UBE3C	HP:0002254	Intermittent diarrhea	1/3	OMIM:620270
9690	UBE3C	HP:0010665	Bilateral coxa valga	1/3	OMIM:620270
9690	UBE3C	HP:0011968	Feeding difficulties	1/3	OMIM:620270
9690	UBE3C	HP:0002360	Sleep abnormality	1/3	OMIM:620270
9690	UBE3C	HP:0002300	Mutism	2/3	OMIM:620270
9690	UBE3C	HP:0003623	Neonatal onset	1/3	OMIM:620270
9690	UBE3C	HP:0000668	Hypodontia	3/3	OMIM:620270
9690	UBE3C	HP:0005616	Accelerated skeletal maturation	1/3	OMIM:620270
9690	UBE3C	HP:0000752	Hyperactivity	1/3	OMIM:620270
9690	UBE3C	HP:0000718	Aggressive behavior	3/3	OMIM:620270
9690	UBE3C	HP:0000729	Autistic behavior	3/3	OMIM:620270
9690	UBE3C	HP:0001511	Intrauterine growth retardation	1/3	OMIM:620270
9690	UBE3C	HP:0001513	Obesity	2/3	OMIM:620270
9690	UBE3C	HP:0000365	Hearing impairment	2/3	OMIM:620270
9690	UBE3C	HP:0001639	Hypertrophic cardiomyopathy	1/3	OMIM:620270
9692	PRORP	HP:0002495	Impaired vibratory sensation	1/8	OMIM:619737
9692	PRORP	HP:0001276	Hypertonia	1/8	OMIM:619737
9692	PRORP	HP:0001269	Hemiparesis	1/8	OMIM:619737
9692	PRORP	HP:0001284	Areflexia	1/8	OMIM:619737
9692	PRORP	HP:0001250	Seizure	1/8	OMIM:619737
9692	PRORP	HP:0001249	Intellectual disability	3/8	OMIM:619737
9692	PRORP	HP:0001263	Global developmental delay	4/8	OMIM:619737
9692	PRORP	HP:0032388	Periventricular nodular heterotopia	1/8	OMIM:619737
9692	PRORP	HP:0007340	Lower limb muscle weakness	1/8	OMIM:619737
9692	PRORP	HP:0012074	Tonic pupil	1/8	OMIM:619737
9692	PRORP	HP:0000007	Autosomal recessive inheritance	-	OMIM:619737
9692	PRORP	HP:0001337	Tremor	1/8	OMIM:619737
9692	PRORP	HP:0033748	Hypoesthesia	1/8	OMIM:619737
9692	PRORP	HP:0002650	Scoliosis	1/8	OMIM:619737
9692	PRORP	HP:0025406	Asthenia	1/8	OMIM:619737
9692	PRORP	HP:0003326	Myalgia	1/8	OMIM:619737
9692	PRORP	HP:0002076	Migraine	1/8	OMIM:619737
9692	PRORP	HP:0002151	Increased circulating lactate concentration	1/8	OMIM:619737
9692	PRORP	HP:0002197	Generalized-onset seizure	1/8	OMIM:619737
9692	PRORP	HP:0011968	Feeding difficulties	1/8	OMIM:619737
9692	PRORP	HP:0002354	Memory impairment	1/8	OMIM:619737
9692	PRORP	HP:0002315	Headache	1/8	OMIM:619737
9692	PRORP	HP:0008529	Absence of acoustic reflex	3/8	OMIM:619737
9692	PRORP	HP:0100654	Retrobulbar optic neuritis	1/8	OMIM:619737
9692	PRORP	HP:0011344	Severe global developmental delay	1/8	OMIM:619737
9692	PRORP	HP:0006989	Dysplastic corpus callosum	1/8	OMIM:619737
9692	PRORP	HP:0003074	Hyperglycemia	1/8	OMIM:619737
9692	PRORP	HP:0000729	Autistic behavior	1/8	OMIM:619737
9692	PRORP	HP:0000709	Psychosis	1/8	OMIM:619737
9692	PRORP	HP:0000786	Primary amenorrhea	3/8	OMIM:619737
9692	PRORP	HP:0004418	Thrombophlebitis	1/8	OMIM:619737
9692	PRORP	HP:0000815	Hypergonadotropic hypogonadism	3/8	OMIM:619737
9692	PRORP	HP:0030891	Periventricular white matter hyperintensities	2/8	OMIM:619737
9692	PRORP	HP:0000286	Epicanthus	1/8	OMIM:619737
9692	PRORP	HP:0032653	Elevated lactate:pyruvate ratio	1/8	OMIM:619737
9692	PRORP	HP:0000233	Thin vermilion border	1/8	OMIM:619737
9692	PRORP	HP:0001511	Intrauterine growth retardation	1/8	OMIM:619737
9692	PRORP	HP:0001513	Obesity	1/8	OMIM:619737
9692	PRORP	HP:0012377	Hemianopia	1/8	OMIM:619737
9692	PRORP	HP:0000316	Hypertelorism	1/8	OMIM:619737
9692	PRORP	HP:0001649	Tachycardia	1/8	OMIM:619737
9692	PRORP	HP:0000308	Microretrognathia	1/8	OMIM:619737
9692	PRORP	HP:0000407	Sensorineural hearing impairment	2/8	OMIM:619737
9692	PRORP	HP:0005484	Secondary microcephaly	1/8	OMIM:619737
9692	PRORP	HP:0000543	Optic disc pallor	1/8	OMIM:619737
9693	RAPGEF2	HP:0001250	Seizure	HP:0040283	OMIM:618075
9693	RAPGEF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618075
9693	RAPGEF2	HP:0003581	Adult onset	-	OMIM:618075
9693	RAPGEF2	HP:0033054	Myoclonic tremor	-	OMIM:618075
9698	PUM1	HP:0001182	Tapered finger	2/2	OMIM:620719
9698	PUM1	HP:0001252	Hypotonia	2/2	OMIM:620719
9698	PUM1	HP:0001251	Ataxia	1/3	OMIM:620719
9698	PUM1	HP:0001249	Intellectual disability	5/5	OMIM:620719
9698	PUM1	HP:0001265	Hyporeflexia	2/2	OMIM:620719
9698	PUM1	HP:0001263	Global developmental delay	5/5	OMIM:620719
9698	PUM1	HP:0001382	Joint hypermobility	1/1	OMIM:620719
9698	PUM1	HP:0000047	Hypospadias	1/2	OMIM:620719
9698	PUM1	HP:0000028	Cryptorchidism	2/2	OMIM:620719
9698	PUM1	HP:0033725	Thin corpus callosum	2/2	OMIM:620719
9698	PUM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620719
9698	PUM1	HP:0002650	Scoliosis	1/1	OMIM:620719
9698	PUM1	HP:0012171	Stereotypical hand wringing	1/1	OMIM:620719
9698	PUM1	HP:0008936	Axial hypotonia	2/2	OMIM:620719
9698	PUM1	HP:0002069	Bilateral tonic-clonic seizure	2/2	OMIM:620719
9698	PUM1	HP:0002059	Cerebral atrophy	1/2	OMIM:620719
9698	PUM1	HP:0002133	Status epilepticus	2/5	OMIM:620719
9698	PUM1	HP:0002197	Generalized-onset seizure	1/1	OMIM:620719
9698	PUM1	HP:0002198	Dilated fourth ventricle	1/1	OMIM:620719
9698	PUM1	HP:0003593	Infantile onset	2/2	OMIM:620719
9698	PUM1	HP:0100704	Cerebral visual impairment	1/1	OMIM:620719
9698	PUM1	HP:0002213	Fine hair	1/1	OMIM:620719
9698	PUM1	HP:0001007	Hirsutism	1/1	OMIM:620719
9698	PUM1	HP:0200055	Small hand	1/1	OMIM:620719
9698	PUM1	HP:0009765	Low hanging columella	2/2	OMIM:620719
9698	PUM1	HP:0003623	Neonatal onset	1/2	OMIM:620719
9698	PUM1	HP:0004220	Short middle phalanx of the 5th finger	1/1	OMIM:620719
9698	PUM1	HP:0000677	Oligodontia	1/5	OMIM:620719
9698	PUM1	HP:0000653	Sparse eyelashes	1/1	OMIM:620719
9698	PUM1	HP:0004322	Short stature	2/3	OMIM:620719
9698	PUM1	HP:0031936	Delayed ability to walk	1/1	OMIM:620719
9698	PUM1	HP:0004349	Reduced bone mineral density	1/1	OMIM:620719
9698	PUM1	HP:0000767	Pectus excavatum	1/1	OMIM:620719
9698	PUM1	HP:0011463	Childhood onset	2/3	OMIM:620719
9698	PUM1	HP:0045075	Sparse eyebrow	1/1	OMIM:620719
9698	PUM1	HP:0000286	Epicanthus	2/5	OMIM:620719
9698	PUM1	HP:0030084	Clinodactyly	3/3	OMIM:620719
9698	PUM1	HP:0000252	Microcephaly	2/3	OMIM:620719
9698	PUM1	HP:0000218	High palate	4/5	OMIM:620719
9698	PUM1	HP:0001511	Intrauterine growth retardation	1/5	OMIM:620719
9698	PUM1	HP:0012389	Appendicular hypotonia	1/1	OMIM:620719
9698	PUM1	HP:0007874	Almond-shaped palpebral fissure	3/5	OMIM:620719
9698	PUM1	HP:0000369	Low-set ears	3/5	OMIM:620719
9698	PUM1	HP:0000341	Narrow forehead	3/5	OMIM:620719
9698	PUM1	HP:0000340	Sloping forehead	2/5	OMIM:620719
9698	PUM1	HP:0000316	Hypertelorism	4/4	OMIM:620719
9698	PUM1	HP:0000307	Pointed chin	2/5	OMIM:620719
9698	PUM1	HP:0011147	Typical absence seizure	3/5	OMIM:620719
9698	PUM1	HP:0001770	Toe syndactyly	1/1	OMIM:620719
9698	PUM1	HP:0000448	Prominent nose	2/5	OMIM:620719
9698	PUM1	HP:0000431	Wide nasal bridge	3/5	OMIM:620719
9698	PUM1	HP:0000426	Prominent nasal bridge	1/5	OMIM:620719
9698	PUM1	HP:0000508	Ptosis	3/5	OMIM:620719
9699	RIMS2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
9699	RIMS2	HP:0001251	Ataxia	2/6	OMIM:618970
9699	RIMS2	HP:0001263	Global developmental delay	-	OMIM:618970
9699	RIMS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
9699	RIMS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618970
9699	RIMS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
9699	RIMS2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
9699	RIMS2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
9699	RIMS2	HP:0007663	Reduced visual acuity	6/6	OMIM:618970
9699	RIMS2	HP:0003621	Juvenile onset	8/19	OMIM:180100
9699	RIMS2	HP:0000639	Nystagmus	5/7	OMIM:618970
9699	RIMS2	HP:0000613	Photophobia	7/7	OMIM:618970
9699	RIMS2	HP:0000662	Nyctalopia	26/28	OMIM:180100
9699	RIMS2	HP:0003074	Hyperglycemia	3/4	OMIM:618970
9699	RIMS2	HP:0000739	Anxiety	1/6	OMIM:618970
9699	RIMS2	HP:0000750	Delayed speech and language development	4/6	OMIM:618970
9699	RIMS2	HP:0000729	Autistic behavior	5/6	OMIM:618970
9699	RIMS2	HP:0011463	Childhood onset	3/19	OMIM:180100
9699	RIMS2	HP:0011462	Young adult onset	8/19	OMIM:180100
9699	RIMS2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
9699	RIMS2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
9699	RIMS2	HP:0030329	Retinal thinning	4/4	OMIM:618970
9699	RIMS2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
9699	RIMS2	HP:0000575	Scotoma	5/18	OMIM:180100
9699	RIMS2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
9699	RIMS2	HP:0000543	Optic disc pallor	7/7	OMIM:618970
9699	RIMS2	HP:0000545	Myopia	-	OMIM:180100
9702	CEP57	HP:0010880	Increased nuchal translucency	HP:0040281	ORPHA:1052
9702	CEP57	HP:0100830	Round ear	1/1	OMIM:614114
9702	CEP57	HP:0001256	Intellectual disability, mild	1/4	OMIM:614114
9702	CEP57	HP:0001250	Seizure	HP:0040283	ORPHA:1052
9702	CEP57	HP:0001252	Hypotonia	HP:0040283	ORPHA:1052
9702	CEP57	HP:0001252	Hypotonia	1/4	OMIM:614114
9702	CEP57	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1052
9702	CEP57	HP:0001249	Intellectual disability	1/1	OMIM:614114
9702	CEP57	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1052
9702	CEP57	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1052
9702	CEP57	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:1052
9702	CEP57	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:1052
9702	CEP57	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:1052
9702	CEP57	HP:0001363	Craniosynostosis	1/1	OMIM:614114
9702	CEP57	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:1052
9702	CEP57	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:1052
9702	CEP57	HP:0008846	Severe intrauterine growth retardation	1/1	OMIM:614114
9702	CEP57	HP:0002664	Neoplasm	HP:0040283	ORPHA:1052
9702	CEP57	HP:0000007	Autosomal recessive inheritance	-	OMIM:614114
9702	CEP57	HP:0002667	Nephroblastoma	HP:0040283	ORPHA:1052
9702	CEP57	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:1052
9702	CEP57	HP:0001305	Dandy-Walker malformation	HP:0040281	ORPHA:1052
9702	CEP57	HP:0008905	Rhizomelia	3/6	OMIM:614114
9702	CEP57	HP:0000160	Narrow mouth	1/1	OMIM:614114
9702	CEP57	HP:0000175	Cleft palate	HP:0040283	ORPHA:1052
9702	CEP57	HP:0012126	Stomach cancer	HP:0040283	ORPHA:1052
9702	CEP57	HP:0002797	Osteolysis	HP:0040283	ORPHA:1052
9702	CEP57	HP:0002750	Delayed skeletal maturation	1/1	OMIM:614114
9702	CEP57	HP:0032569	Temporal bossing	1/4	OMIM:614114
9702	CEP57	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1052
9702	CEP57	HP:0002007	Frontal bossing	1/1	OMIM:614114
9702	CEP57	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1052
9702	CEP57	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:1052
9702	CEP57	HP:0002101	Abnormal lung lobation	1/4	OMIM:614114
9702	CEP57	HP:0002104	Apnea	HP:0040283	ORPHA:1052
9702	CEP57	HP:0010535	Sleep apnea	2/5	OMIM:614114
9702	CEP57	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:1052
9702	CEP57	HP:0002247	Duodenal atresia	1/4	OMIM:614114
9702	CEP57	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:1052
9702	CEP57	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:1052
9702	CEP57	HP:0100650	Vaginal neoplasm	HP:0040283	ORPHA:1052
9702	CEP57	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:1052
9702	CEP57	HP:0200040	Epidermoid cyst	2/5	OMIM:614114
9702	CEP57	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:1052
9702	CEP57	HP:0004209	Clinodactyly of the 5th finger	1/1	OMIM:614114
9702	CEP57	HP:0000601	Hypotelorism	1/1	OMIM:614114
9702	CEP57	HP:0004322	Short stature	HP:0040281	ORPHA:1052
9702	CEP57	HP:0004322	Short stature	5/5	OMIM:614114
9702	CEP57	HP:0003003	Colon cancer	HP:0040283	ORPHA:1052
9702	CEP57	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:1052
9702	CEP57	HP:0012745	Short palpebral fissure	1/4	OMIM:614114
9702	CEP57	HP:0003196	Short nose	1/1	OMIM:614114
9702	CEP57	HP:0000929	Abnormal skull morphology	HP:0040283	ORPHA:1052
9702	CEP57	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:1052
9702	CEP57	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1052
9702	CEP57	HP:0000821	Hypothyroidism	3/4	OMIM:614114
9702	CEP57	HP:0000824	Decreased response to growth hormone stimulation test	1/1	OMIM:614114
9702	CEP57	HP:0000957	Cafe-au-lait spot	1/4	OMIM:614114
9702	CEP57	HP:0000954	Single transverse palmar crease	1/1	OMIM:614114
9702	CEP57	HP:0008070	Sparse hair	1/1	OMIM:614114
9702	CEP57	HP:0000286	Epicanthus	HP:0040281	ORPHA:1052
9702	CEP57	HP:0000286	Epicanthus	5/6	OMIM:614114
9702	CEP57	HP:0000276	Long face	1/1	OMIM:614114
9702	CEP57	HP:0000268	Dolichocephaly	1/1	OMIM:614114
9702	CEP57	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:1052
9702	CEP57	HP:0030084	Clinodactyly	2/4	OMIM:614114
9702	CEP57	HP:0000252	Microcephaly	HP:0040282	ORPHA:1052
9702	CEP57	HP:0000252	Microcephaly	2/4	OMIM:614114
9702	CEP57	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:1052
9702	CEP57	HP:0002859	Rhabdomyosarcoma	HP:0040283	ORPHA:1052
9702	CEP57	HP:0001541	Ascites	HP:0040281	ORPHA:1052
9702	CEP57	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:1052
9702	CEP57	HP:0001518	Small for gestational age	4/5	OMIM:614114
9702	CEP57	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:1052
9702	CEP57	HP:0001511	Intrauterine growth retardation	2/4	OMIM:614114
9702	CEP57	HP:0001510	Growth delay	HP:0040283	ORPHA:1052
9702	CEP57	HP:0001510	Growth delay	6/6	OMIM:614114
9702	CEP57	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1052
9702	CEP57	HP:0000365	Hearing impairment	2/5	OMIM:614114
9702	CEP57	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:1052
9702	CEP57	HP:0000369	Low-set ears	2/2	OMIM:614114
9702	CEP57	HP:0000340	Sloping forehead	HP:0040283	ORPHA:1052
9702	CEP57	HP:0001682	Subvalvular aortic stenosis	HP:0040283	ORPHA:1052
9702	CEP57	HP:0001682	Subvalvular aortic stenosis	2/5	OMIM:614114
9702	CEP57	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:1052
9702	CEP57	HP:0001680	Coarctation of aorta	1/4	OMIM:614114
9702	CEP57	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:1052
9702	CEP57	HP:0000348	High forehead	HP:0040283	ORPHA:1052
9702	CEP57	HP:0000347	Micrognathia	HP:0040281	ORPHA:1052
9702	CEP57	HP:0000347	Micrognathia	2/2	OMIM:614114
9702	CEP57	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:1052
9702	CEP57	HP:0001659	Aortic regurgitation	1/1	OMIM:614114
9702	CEP57	HP:0000325	Triangular face	HP:0040282	ORPHA:1052
9702	CEP57	HP:0000325	Triangular face	1/1	OMIM:614114
9702	CEP57	HP:0001629	Ventricular septal defect	2/5	OMIM:614114
9702	CEP57	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1052
9702	CEP57	HP:0001631	Atrial septal defect	1/4	OMIM:614114
9702	CEP57	HP:0007957	Corneal opacity	HP:0040281	ORPHA:1052
9702	CEP57	HP:0005280	Depressed nasal bridge	2/4	OMIM:614114
9702	CEP57	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:1052
9702	CEP57	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:1052
9702	CEP57	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:614114
9702	CEP57	HP:0000490	Deeply set eye	2/5	OMIM:614114
9702	CEP57	HP:0000457	Depressed nasal ridge	HP:0040283	ORPHA:1052
9702	CEP57	HP:0000445	Wide nose	HP:0040283	ORPHA:1052
9702	CEP57	HP:0000414	Bulbous nose	1/1	OMIM:614114
9702	CEP57	HP:0006721	Acute lymphoblastic leukemia	HP:0040283	ORPHA:1052
9702	CEP57	HP:0000518	Cataract	HP:0040281	ORPHA:1052
9702	CEP57	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1052
9702	CEP57	HP:0000501	Glaucoma	HP:0040281	ORPHA:1052
9702	CEP57	HP:0000581	Blepharophimosis	1/1	OMIM:614114
9702	CEP57	HP:0011220	Prominent forehead	1/1	OMIM:614114
9702	CEP57	HP:0000568	Microphthalmia	HP:0040281	ORPHA:1052
9711	RUBCN	HP:0001152	Saccadic smooth pursuit	3/4	OMIM:615705
9711	RUBCN	HP:0001152	Saccadic smooth pursuit	HP:0040282	ORPHA:404499
9711	RUBCN	HP:0001272	Cerebellar atrophy	1/3	OMIM:615705
9711	RUBCN	HP:0001270	Motor delay	5/5	OMIM:615705
9711	RUBCN	HP:0001256	Intellectual disability, mild	2/2	OMIM:615705
9711	RUBCN	HP:0001250	Seizure	HP:0040282	ORPHA:404499
9711	RUBCN	HP:0001250	Seizure	2/3	OMIM:615705
9711	RUBCN	HP:0001251	Ataxia	3/3	OMIM:615705
9711	RUBCN	HP:0001249	Intellectual disability	HP:0040282	ORPHA:404499
9711	RUBCN	HP:0001249	Intellectual disability	2/2	OMIM:615705
9711	RUBCN	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:404499
9711	RUBCN	HP:0001260	Dysarthria	HP:0040281	ORPHA:404499
9711	RUBCN	HP:0001260	Dysarthria	2/2	OMIM:615705
9711	RUBCN	HP:0001263	Global developmental delay	2/2	OMIM:615705
9711	RUBCN	HP:0000007	Autosomal recessive inheritance	-	OMIM:615705
9711	RUBCN	HP:0002600	Hyporeflexia of lower limbs	1/3	OMIM:615705
9711	RUBCN	HP:0002066	Gait ataxia	2/2	OMIM:615705
9711	RUBCN	HP:0002066	Gait ataxia	HP:0040281	ORPHA:404499
9711	RUBCN	HP:0002070	Limb ataxia	HP:0040281	ORPHA:404499
9711	RUBCN	HP:0002194	Delayed gross motor development	HP:0040281	ORPHA:404499
9711	RUBCN	HP:0002172	Postural instability	HP:0040283	ORPHA:404499
9711	RUBCN	HP:0003593	Infantile onset	2/3	OMIM:615705
9711	RUBCN	HP:0002395	Lower limb hyperreflexia	3/5	OMIM:615705
9711	RUBCN	HP:0003676	Progressive	-	OMIM:615705
9711	RUBCN	HP:0002317	Unsteady gait	2/2	OMIM:615705
9711	RUBCN	HP:0000639	Nystagmus	HP:0040283	ORPHA:404499
9711	RUBCN	HP:0000639	Nystagmus	1/3	OMIM:615705
9711	RUBCN	HP:0031936	Delayed ability to walk	3/3	OMIM:615705
9711	RUBCN	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:404499
9711	RUBCN	HP:0000750	Delayed speech and language development	2/2	OMIM:615705
9711	RUBCN	HP:0012391	Hyporeflexia of upper limbs	3/3	OMIM:615705
9719	ADAMTSL2	HP:0001156	Brachydactyly	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9719	ADAMTSL2	HP:0001293	Cranial nerve compression	-	OMIM:131300
9719	ADAMTSL2	HP:0001256	Intellectual disability, mild	6/15	OMIM:231050
9719	ADAMTSL2	HP:0001250	Seizure	-	OMIM:231050
9719	ADAMTSL2	HP:0001252	Hypotonia	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0001252	Hypotonia	2/7	OMIM:615777
9719	ADAMTSL2	HP:0001249	Intellectual disability	5/7	OMIM:615777
9719	ADAMTSL2	HP:0001263	Global developmental delay	-	OMIM:231050
9719	ADAMTSL2	HP:0001263	Global developmental delay	-	OMIM:615777
9719	ADAMTSL2	HP:0001239	Wrist flexion contracture	-	OMIM:231050
9719	ADAMTSL2	HP:0007392	Excessive wrinkled skin	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0002515	Waddling gait	54/102	OMIM:131300
9719	ADAMTSL2	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0001373	Joint dislocation	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0001367	Abnormal joint morphology	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0001385	Hip dysplasia	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0001387	Joint stiffness	20/20	OMIM:231050
9719	ADAMTSL2	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0001382	Joint hypermobility	-	OMIM:615777
9719	ADAMTSL2	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:1901
9719	ADAMTSL2	HP:0002680	J-shaped sella turcica	-	OMIM:231050
9719	ADAMTSL2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9719	ADAMTSL2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9719	ADAMTSL2	HP:0006161	Short metacarpals with rounded proximal ends	-	OMIM:231050
9719	ADAMTSL2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9719	ADAMTSL2	HP:0001324	Muscle weakness	40/96	OMIM:131300
9719	ADAMTSL2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9719	ADAMTSL2	HP:0002673	Coxa valga	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0002673	Coxa valga	-	OMIM:231050
9719	ADAMTSL2	HP:0000007	Autosomal recessive inheritance	-	OMIM:231050
9719	ADAMTSL2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9719	ADAMTSL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9719	ADAMTSL2	HP:0002650	Scoliosis	HP:0040282	ORPHA:1901
9719	ADAMTSL2	HP:0002650	Scoliosis	12/14	OMIM:131300
9719	ADAMTSL2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9719	ADAMTSL2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9719	ADAMTSL2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9719	ADAMTSL2	HP:0012185	Constrictive median neuropathy	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9719	ADAMTSL2	HP:0000175	Cleft palate	2/7	OMIM:615777
9719	ADAMTSL2	HP:0000154	Wide mouth	-	OMIM:231050
9719	ADAMTSL2	HP:0410018	Recurrent ear infections	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0002779	Tracheomalacia	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0002777	Tracheal stenosis	-	OMIM:231050
9719	ADAMTSL2	HP:0002777	Tracheal stenosis	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0002750	Delayed skeletal maturation	12/13	OMIM:231050
9719	ADAMTSL2	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0002748	Rickets	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0002749	Osteomalacia	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0002036	Hiatus hernia	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0003300	Ovoid vertebral bodies	6/10	OMIM:231050
9719	ADAMTSL2	HP:0100541	Femoral hernia	HP:0040282	ORPHA:1901
9719	ADAMTSL2	HP:0002099	Asthma	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0002092	Pulmonary arterial hypertension	4/11	OMIM:231050
9719	ADAMTSL2	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0003388	Easy fatigability	36/76	OMIM:131300
9719	ADAMTSL2	HP:0010446	Tricuspid stenosis	-	OMIM:231050
9719	ADAMTSL2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9719	ADAMTSL2	HP:0040261	Increased size of nasopharyngeal adenoids	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0009473	Joint contracture of the hand	-	OMIM:231050
9719	ADAMTSL2	HP:0100490	Camptodactyly of finger	-	OMIM:231050
9719	ADAMTSL2	HP:0010529	Echolalia	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0010579	Cone-shaped epiphysis	5/8	OMIM:231050
9719	ADAMTSL2	HP:0002240	Hepatomegaly	5/17	OMIM:231050
9719	ADAMTSL2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0004894	Laryngotracheal stenosis	6/13	OMIM:231050
9719	ADAMTSL2	HP:0004890	Elevated pulmonary artery pressure	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0100790	Hernia	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0003510	Severe short stature	7/7	OMIM:615777
9719	ADAMTSL2	HP:0003510	Severe short stature	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0002381	Aphasia	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0002315	Headache	-	OMIM:131300
9719	ADAMTSL2	HP:0004976	Knee dislocation	6/7	OMIM:615777
9719	ADAMTSL2	HP:0001001	Abnormality of subcutaneous fat tissue	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0100679	Lack of skin elasticity	-	OMIM:231050
9719	ADAMTSL2	HP:0001072	Thickened skin	10/15	OMIM:231050
9719	ADAMTSL2	HP:0001072	Thickened skin	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0009803	Short phalanx of finger	-	OMIM:615777
9719	ADAMTSL2	HP:0100633	Esophagitis	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0100699	Scarring	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0009763	Limb pain	63/92	OMIM:131300
9719	ADAMTSL2	HP:0002300	Mutism	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0003621	Juvenile onset	-	OMIM:131300
9719	ADAMTSL2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9719	ADAMTSL2	HP:0004279	Short palm	-	OMIM:231050
9719	ADAMTSL2	HP:0004279	Short palm	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9719	ADAMTSL2	HP:6001056	Out-toeing	-	OMIM:131300
9719	ADAMTSL2	HP:0000651	Diplopia	-	OMIM:131300
9719	ADAMTSL2	HP:0001956	Truncal obesity	2/7	OMIM:615777
9719	ADAMTSL2	HP:0001903	Anemia	HP:0040283	OMIM:131300
9719	ADAMTSL2	HP:0010049	Short metacarpal	-	OMIM:615777
9719	ADAMTSL2	HP:0000678	Dental crowding	-	OMIM:615777
9719	ADAMTSL2	HP:0000670	Carious teeth	-	OMIM:131300
9719	ADAMTSL2	HP:0011304	Broad thumb	2/7	OMIM:615777
9719	ADAMTSL2	HP:0000668	Hypodontia	-	OMIM:615777
9719	ADAMTSL2	HP:0000664	Synophrys	-	OMIM:615777
9719	ADAMTSL2	HP:0004322	Short stature	20/20	OMIM:231050
9719	ADAMTSL2	HP:0004322	Short stature	HP:0040281	ORPHA:2623
9719	ADAMTSL2	HP:0004396	Poor appetite	-	OMIM:131300
9719	ADAMTSL2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9719	ADAMTSL2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9719	ADAMTSL2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9719	ADAMTSL2	HP:0003010	Prolonged bleeding time	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0003026	Short long bone	7/7	OMIM:615777
9719	ADAMTSL2	HP:0003026	Short long bone	15/15	OMIM:231050
9719	ADAMTSL2	HP:0003026	Short long bone	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9719	ADAMTSL2	HP:0000767	Pectus excavatum	-	OMIM:231050
9719	ADAMTSL2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9719	ADAMTSL2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9719	ADAMTSL2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9719	ADAMTSL2	HP:0000750	Delayed speech and language development	-	OMIM:615777
9719	ADAMTSL2	HP:0011461	Fetal onset	7/7	OMIM:615777
9719	ADAMTSL2	HP:0000774	Narrow chest	2/7	OMIM:615777
9719	ADAMTSL2	HP:0011428	Short fetal femur length	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0003196	Short nose	11/16	OMIM:231050
9719	ADAMTSL2	HP:0003196	Short nose	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0000926	Platyspondyly	5/8	OMIM:231050
9719	ADAMTSL2	HP:0000926	Platyspondyly	1/7	OMIM:615777
9719	ADAMTSL2	HP:0034281	Phalangeal cone-shaped epiphyses	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0003180	Flat acetabular roof	-	OMIM:615777
9719	ADAMTSL2	HP:0004482	Relative macrocephaly	-	OMIM:615777
9719	ADAMTSL2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9719	ADAMTSL2	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:231050
9719	ADAMTSL2	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:2623
9719	ADAMTSL2	HP:0000823	Delayed puberty	-	OMIM:131300
9719	ADAMTSL2	HP:0000894	Short clavicles	-	OMIM:615777
9719	ADAMTSL2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9719	ADAMTSL2	HP:0034392	Joint contracture	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9719	ADAMTSL2	HP:0034350	Valvular pulmonary stenosis	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0000963	Thin skin	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0000939	Osteoporosis	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0000938	Osteopenia	-	OMIM:231050
9719	ADAMTSL2	HP:0000938	Osteopenia	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0045025	Narrow palpebral fissure	13/15	OMIM:231050
9719	ADAMTSL2	HP:0000286	Epicanthus	HP:0040282	ORPHA:1901
9719	ADAMTSL2	HP:0000286	Epicanthus	1/7	OMIM:615777
9719	ADAMTSL2	HP:0000280	Coarse facial features	2/7	OMIM:615777
9719	ADAMTSL2	HP:0000278	Retrognathia	HP:0040282	ORPHA:1901
9719	ADAMTSL2	HP:0002812	Coxa vara	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0002827	Hip dislocation	3/7	OMIM:615777
9719	ADAMTSL2	HP:0002827	Hip dislocation	HP:0040281	ORPHA:1901
9719	ADAMTSL2	HP:0005041	Irregular capital femoral epiphysis	8/10	OMIM:231050
9719	ADAMTSL2	HP:0000252	Microcephaly	-	OMIM:615777
9719	ADAMTSL2	HP:0000219	Thin upper lip vermilion	18/18	OMIM:231050
9719	ADAMTSL2	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0002857	Genu valgum	-	OMIM:131300
9719	ADAMTSL2	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0001533	Slender build	-	OMIM:131300
9719	ADAMTSL2	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9719	ADAMTSL2	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0007807	Optic nerve compression	-	OMIM:131300
9719	ADAMTSL2	HP:0012368	Flat face	7/7	OMIM:615777
9719	ADAMTSL2	HP:0000391	Thickened helices	-	OMIM:231050
9719	ADAMTSL2	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0006536	Airway obstruction	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9719	ADAMTSL2	HP:0001602	Laryngeal stenosis	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0000365	Hearing impairment	10/67	OMIM:131300
9719	ADAMTSL2	HP:0000343	Long philtrum	18/19	OMIM:231050
9719	ADAMTSL2	HP:0000343	Long philtrum	1/7	OMIM:615777
9719	ADAMTSL2	HP:0000343	Long philtrum	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0011001	Increased bone mineral density	-	OMIM:131300
9719	ADAMTSL2	HP:0000347	Micrognathia	HP:0040282	ORPHA:1901
9719	ADAMTSL2	HP:0001650	Aortic valve stenosis	-	OMIM:231050
9719	ADAMTSL2	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0000319	Smooth philtrum	-	OMIM:231050
9719	ADAMTSL2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0000311	Round face	2/7	OMIM:615777
9719	ADAMTSL2	HP:0000311	Round face	14/15	OMIM:231050
9719	ADAMTSL2	HP:0000311	Round face	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0001620	Abnormally high-pitched voice	6/11	OMIM:231050
9719	ADAMTSL2	HP:0002970	Genu varum	-	OMIM:615777
9719	ADAMTSL2	HP:0001635	Congestive heart failure	-	OMIM:231050
9719	ADAMTSL2	HP:0000303	Mandibular prognathia	-	OMIM:131300
9719	ADAMTSL2	HP:0006695	Atrioventricular canal defect	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0001718	Mitral stenosis	-	OMIM:231050
9719	ADAMTSL2	HP:0001718	Mitral stenosis	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1901
9719	ADAMTSL2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9719	ADAMTSL2	HP:0000483	Astigmatism	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0001792	Small nail	-	OMIM:231050
9719	ADAMTSL2	HP:0000463	Anteverted nares	-	OMIM:231050
9719	ADAMTSL2	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0000470	Short neck	1/7	OMIM:615777
9719	ADAMTSL2	HP:0001773	Short foot	-	OMIM:231050
9719	ADAMTSL2	HP:0001773	Short foot	HP:0040282	ORPHA:2623
9719	ADAMTSL2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9719	ADAMTSL2	HP:0001763	Pes planus	1/7	OMIM:615777
9719	ADAMTSL2	HP:0000431	Wide nasal bridge	14/15	OMIM:231050
9719	ADAMTSL2	HP:0001840	Metatarsus adductus	-	OMIM:615777
9719	ADAMTSL2	HP:0000520	Proptosis	2/4	OMIM:131300
9719	ADAMTSL2	HP:0000520	Proptosis	7/7	OMIM:615777
9719	ADAMTSL2	HP:0000501	Glaucoma	HP:0040284	ORPHA:2623
9719	ADAMTSL2	HP:0000582	Upslanted palpebral fissure	-	OMIM:231050
9719	ADAMTSL2	HP:0000592	Blue sclerae	2/7	OMIM:615777
9719	ADAMTSL2	HP:0000540	Hypermetropia	HP:0040283	ORPHA:2623
9719	ADAMTSL2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9719	ADAMTSL2	HP:0012514	Lower limb pain	4/4	OMIM:131300
9719	ADAMTSL2	HP:0000545	Myopia	HP:0040283	ORPHA:2623
9722	NOS1AP	HP:0003774	Stage 5 chronic kidney disease	1/1	OMIM:619155
9722	NOS1AP	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
9722	NOS1AP	HP:0001279	Syncope	HP:0040282	ORPHA:101016
9722	NOS1AP	HP:0001250	Seizure	HP:0040283	ORPHA:101016
9722	NOS1AP	HP:0007430	Generalized edema	2/2	OMIM:619155
9722	NOS1AP	HP:0000096	Glomerular sclerosis	1/1	OMIM:619155
9722	NOS1AP	HP:0000007	Autosomal recessive inheritance	-	OMIM:619155
9722	NOS1AP	HP:0031266	Podocyte foot process effacement	1/1	OMIM:619155
9722	NOS1AP	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
9722	NOS1AP	HP:0000100	Nephrotic syndrome	2/2	OMIM:619155
9722	NOS1AP	HP:0004722	Thickened glomerular basement membrane	1/1	OMIM:619155
9722	NOS1AP	HP:0003593	Infantile onset	1/2	OMIM:619155
9722	NOS1AP	HP:0003623	Neonatal onset	1/2	OMIM:619155
9722	NOS1AP	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
9722	NOS1AP	HP:0003075	Hypoproteinemia	2/2	OMIM:619155
9722	NOS1AP	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
9722	NOS1AP	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
9722	NOS1AP	HP:0002907	Microscopic hematuria	2/2	OMIM:619155
9722	NOS1AP	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
9722	NOS1AP	HP:0000365	Hearing impairment	-	ORPHA:101016
9722	NOS1AP	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
9722	NOS1AP	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
9722	NOS1AP	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
9722	NOS1AP	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
9722	NOS1AP	HP:0012593	Nephrotic range proteinuria	2/2	OMIM:619155
9723	SEMA3E	HP:0001156	Brachydactyly	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0009906	Aplasia/Hypoplasia of the earlobes	HP:0040281	ORPHA:138
9723	SEMA3E	HP:0008551	Microtia	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0002410	Aqueductal stenosis	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0001291	Abnormal cranial nerve morphology	HP:0040281	ORPHA:138
9723	SEMA3E	HP:0001252	Hypotonia	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0001249	Intellectual disability	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0001263	Global developmental delay	HP:0040281	ORPHA:138
9723	SEMA3E	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0008734	Decreased testicular size	1/1	OMIM:146110
9723	SEMA3E	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0000066	Labial hypoplasia	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:138
9723	SEMA3E	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
9723	SEMA3E	HP:0000054	Micropenis	HP:0040281	ORPHA:138
9723	SEMA3E	HP:0000054	Micropenis	1/1	OMIM:146110
9723	SEMA3E	HP:0000048	Bifid scrotum	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:138
9723	SEMA3E	HP:0000028	Cryptorchidism	-	OMIM:146110
9723	SEMA3E	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:138
9723	SEMA3E	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
9723	SEMA3E	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0002650	Scoliosis	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0000160	Narrow mouth	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0000175	Cleft palate	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0002015	Dysphagia	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0010443	Bifid femur	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0010442	Polydactyly	HP:0040284	ORPHA:138
9723	SEMA3E	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
9723	SEMA3E	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
9723	SEMA3E	HP:0100736	Abnormal soft palate morphology	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0010628	Facial palsy	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0010751	Dimple chin	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0003621	Juvenile onset	2/2	OMIM:146110
9723	SEMA3E	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0000639	Nystagmus	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0000648	Optic atrophy	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0000612	Iris coloboma	HP:0040281	ORPHA:138
9723	SEMA3E	HP:0000625	Eyelid coloboma	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0011382	Hypoplasia of the semicircular canal	HP:0040281	ORPHA:138
9723	SEMA3E	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0004322	Short stature	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0000772	Abnormal rib morphology	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0000771	Gynecomastia	0/1	OMIM:146110
9723	SEMA3E	HP:0000717	Autism	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0000789	Infertility	HP:0040283	OMIM:146110
9723	SEMA3E	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
9723	SEMA3E	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
9723	SEMA3E	HP:0000834	Abnormality of the adrenal glands	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0000823	Delayed puberty	HP:0040281	ORPHA:138
9723	SEMA3E	HP:0011611	Interrupted aortic arch	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0000286	Epicanthus	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0000275	Narrow face	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0005113	Aortic arch aneurysm	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0000252	Microcephaly	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0001539	Omphalocele	HP:0040284	ORPHA:138
9723	SEMA3E	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:138
9723	SEMA3E	HP:0000396	Overfolded helix	HP:0040281	ORPHA:138
9723	SEMA3E	HP:0002937	Hemivertebrae	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0000365	Hearing impairment	HP:0040281	ORPHA:138
9723	SEMA3E	HP:0000359	Abnormality of the inner ear	HP:0040281	ORPHA:138
9723	SEMA3E	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0000316	Hypertelorism	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0001646	Abnormal aortic valve morphology	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0002992	Abnormal tibia morphology	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0000486	Strabismus	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0000458	Anosmia	HP:0040281	ORPHA:138
9723	SEMA3E	HP:0000465	Webbed neck	HP:0040284	ORPHA:138
9723	SEMA3E	HP:0000453	Choanal atresia	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0000528	Anophthalmia	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0000508	Ptosis	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:138
9723	SEMA3E	HP:0000589	Coloboma	HP:0040281	ORPHA:138
9723	SEMA3E	HP:0000568	Microphthalmia	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:138
9723	SEMA3E	HP:0001883	Talipes	HP:0040283	ORPHA:138
9725	TMEM63A	HP:0002421	Poor head control	2/4	OMIM:618688
9725	TMEM63A	HP:0002415	Leukodystrophy	-	OMIM:618688
9725	TMEM63A	HP:0001290	Generalized hypotonia	1/4	OMIM:618688
9725	TMEM63A	HP:0002599	Head titubation	2/4	OMIM:618688
9725	TMEM63A	HP:0001251	Ataxia	2/4	OMIM:618688
9725	TMEM63A	HP:0012043	Pendular nystagmus	4/4	OMIM:618688
9725	TMEM63A	HP:0000047	Hypospadias	1/3	OMIM:618688
9725	TMEM63A	HP:0001328	Specific learning disability	1/4	OMIM:618688
9725	TMEM63A	HP:0000006	Autosomal dominant inheritance	-	OMIM:618688
9725	TMEM63A	HP:0001310	Dysmetria	1/4	OMIM:618688
9725	TMEM63A	HP:0002080	Intention tremor	1/4	OMIM:618688
9725	TMEM63A	HP:0003487	Babinski sign	1/4	OMIM:618688
9725	TMEM63A	HP:0002188	Delayed CNS myelination	4/4	OMIM:618688
9725	TMEM63A	HP:0000648	Optic atrophy	1/4	OMIM:618688
9725	TMEM63A	HP:0031936	Delayed ability to walk	4/4	OMIM:618688
9725	TMEM63A	HP:0000545	Myopia	3/4	OMIM:618688
9731	CEP104	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
9731	CEP104	HP:0002419	Molar tooth sign on MRI	3/3	OMIM:616781
9731	CEP104	HP:0001290	Generalized hypotonia	2/3	OMIM:616781
9731	CEP104	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
9731	CEP104	HP:0001250	Seizure	HP:0040283	ORPHA:475
9731	CEP104	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
9731	CEP104	HP:0001251	Ataxia	2/3	OMIM:616781
9731	CEP104	HP:0001251	Ataxia	HP:0040281	ORPHA:475
9731	CEP104	HP:0001249	Intellectual disability	5/5	OMIM:619988
9731	CEP104	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
9731	CEP104	HP:0001263	Global developmental delay	5/5	OMIM:619988
9731	CEP104	HP:0001263	Global developmental delay	3/3	OMIM:616781
9731	CEP104	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
9731	CEP104	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
9731	CEP104	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
9731	CEP104	HP:0001382	Joint hypermobility	1/4	OMIM:619988
9731	CEP104	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
9731	CEP104	HP:0000007	Autosomal recessive inheritance	-	OMIM:619988
9731	CEP104	HP:0000007	Autosomal recessive inheritance	-	OMIM:616781
9731	CEP104	HP:0001337	Tremor	HP:0040283	ORPHA:475
9731	CEP104	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
9731	CEP104	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
9731	CEP104	HP:0001321	Cerebellar hypoplasia	-	OMIM:616781
9731	CEP104	HP:0012169	Self-biting	1/4	OMIM:619988
9731	CEP104	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
9731	CEP104	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
9731	CEP104	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
9731	CEP104	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
9731	CEP104	HP:0002104	Apnea	HP:0040281	ORPHA:475
9731	CEP104	HP:0003593	Infantile onset	-	OMIM:616781
9731	CEP104	HP:0003593	Infantile onset	5/5	OMIM:619988
9731	CEP104	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
9731	CEP104	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
9731	CEP104	HP:0001058	Poor wound healing	1/4	OMIM:619988
9731	CEP104	HP:0002346	Head tremor	1/1	OMIM:619988
9731	CEP104	HP:0002317	Unsteady gait	1/1	OMIM:619988
9731	CEP104	HP:0000639	Nystagmus	1/1	OMIM:619988
9731	CEP104	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
9731	CEP104	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
9731	CEP104	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
9731	CEP104	HP:0000657	Oculomotor apraxia	3/3	OMIM:616781
9731	CEP104	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
9731	CEP104	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
9731	CEP104	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
9731	CEP104	HP:0000276	Long face	HP:0040282	ORPHA:475
9731	CEP104	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
9731	CEP104	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
9731	CEP104	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
9731	CEP104	HP:0001611	Hypernasal speech	1/1	OMIM:619988
9731	CEP104	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
9731	CEP104	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
9731	CEP104	HP:0000486	Strabismus	HP:0040283	ORPHA:475
9731	CEP104	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
9731	CEP104	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
9731	CEP104	HP:0000512	Abnormal electroretinogram	1/3	OMIM:616781
9731	CEP104	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
9731	CEP104	HP:0000508	Ptosis	HP:0040283	ORPHA:475
9734	HDAC9	HP:0001263	Global developmental delay	0/10	OMIM:620457
9734	HDAC9	HP:0000006	Autosomal dominant inheritance	-	OMIM:620457
9734	HDAC9	HP:0000160	Narrow mouth	8/10	OMIM:620457
9734	HDAC9	HP:0000162	Glossoptosis	4/9	OMIM:620457
9734	HDAC9	HP:0000175	Cleft palate	1/10	OMIM:620457
9734	HDAC9	HP:0002104	Apnea	4/10	OMIM:620457
9734	HDAC9	HP:0003577	Congenital onset	10/10	OMIM:620457
9734	HDAC9	HP:0004451	Postauricular skin tag	2/10	OMIM:620457
9734	HDAC9	HP:0000293	Full cheeks	8/10	OMIM:620457
9734	HDAC9	HP:0030022	Question mark ear	8/10	OMIM:620457
9734	HDAC9	HP:0000365	Hearing impairment	6/6	OMIM:620457
9734	HDAC9	HP:0000347	Micrognathia	6/10	OMIM:620457
9734	HDAC9	HP:0000324	Facial asymmetry	6/10	OMIM:620457
9739	SETD1A	HP:0008551	Microtia	3/15	OMIM:619056
9739	SETD1A	HP:0001290	Generalized hypotonia	9/15	OMIM:619056
9739	SETD1A	HP:0001270	Motor delay	13/14	OMIM:619056
9739	SETD1A	HP:0001250	Seizure	3/15	OMIM:619056
9739	SETD1A	HP:0001249	Intellectual disability	5/6	OMIM:619056
9739	SETD1A	HP:0001263	Global developmental delay	14/15	OMIM:619056
9739	SETD1A	HP:0001263	Global developmental delay	1/3	OMIM:618832
9739	SETD1A	HP:0001382	Joint hypermobility	7/13	OMIM:619056
9739	SETD1A	HP:0001363	Craniosynostosis	2/15	OMIM:619056
9739	SETD1A	HP:0000034	Hydrocele testis	1/2	OMIM:618832
9739	SETD1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:618832
9739	SETD1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:619056
9739	SETD1A	HP:0000154	Wide mouth	4/15	OMIM:619056
9739	SETD1A	HP:0002719	Recurrent infections	7/15	OMIM:619056
9739	SETD1A	HP:0002069	Bilateral tonic-clonic seizure	4/4	OMIM:618832
9739	SETD1A	HP:0002188	Delayed CNS myelination	1/4	OMIM:618832
9739	SETD1A	HP:0003593	Infantile onset	-	OMIM:619056
9739	SETD1A	HP:0100753	Schizophrenia	1/15	OMIM:619056
9739	SETD1A	HP:0011968	Feeding difficulties	3/8	OMIM:619056
9739	SETD1A	HP:0002360	Sleep abnormality	7/12	OMIM:619056
9739	SETD1A	HP:0010803	Everted upper lip vermilion	5/15	OMIM:619056
9739	SETD1A	HP:0000687	Widely spaced teeth	3/15	OMIM:619056
9739	SETD1A	HP:0004322	Short stature	3/15	OMIM:619056
9739	SETD1A	HP:0000739	Anxiety	4/14	OMIM:619056
9739	SETD1A	HP:0000736	Short attention span	5/14	OMIM:619056
9739	SETD1A	HP:0000750	Delayed speech and language development	14/14	OMIM:619056
9739	SETD1A	HP:0000718	Aggressive behavior	5/14	OMIM:619056
9739	SETD1A	HP:0000729	Autistic behavior	3/14	OMIM:619056
9739	SETD1A	HP:0011463	Childhood onset	-	OMIM:619056
9739	SETD1A	HP:0000286	Epicanthus	7/15	OMIM:619056
9739	SETD1A	HP:0000293	Full cheeks	2/15	OMIM:619056
9739	SETD1A	HP:0000256	Macrocephaly	3/13	OMIM:619056
9739	SETD1A	HP:0001562	Oligohydramnios	1/15	OMIM:619056
9739	SETD1A	HP:0001513	Obesity	3/15	OMIM:619056
9739	SETD1A	HP:0000365	Hearing impairment	2/15	OMIM:619056
9739	SETD1A	HP:0000369	Low-set ears	4/15	OMIM:619056
9739	SETD1A	HP:0000348	High forehead	7/15	OMIM:619056
9739	SETD1A	HP:0000316	Hypertelorism	6/15	OMIM:619056
9739	SETD1A	HP:0001655	Patent foramen ovale	1/4	OMIM:618832
9739	SETD1A	HP:0000494	Downslanted palpebral fissures	6/15	OMIM:619056
9739	SETD1A	HP:0000490	Deeply set eye	4/15	OMIM:619056
9739	SETD1A	HP:0000463	Anteverted nares	4/15	OMIM:619056
9739	SETD1A	HP:0012450	Chronic constipation	3/8	OMIM:619056
9739	SETD1A	HP:0000445	Wide nose	6/15	OMIM:619056
9739	SETD1A	HP:0000505	Visual impairment	6/15	OMIM:619056
9742	IFT140	HP:0001156	Brachydactyly	HP:0040282	ORPHA:474
9742	IFT140	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:474
9742	IFT140	HP:0001162	Postaxial hand polydactyly	1/1	OMIM:266920
9742	IFT140	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
9742	IFT140	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
9742	IFT140	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:730
9742	IFT140	HP:0003774	Stage 5 chronic kidney disease	1/1	OMIM:266920
9742	IFT140	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
9742	IFT140	HP:0002421	Poor head control	1/1	OMIM:266920
9742	IFT140	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9742	IFT140	HP:0001293	Cranial nerve compression	-	OMIM:131300
9742	IFT140	HP:0001270	Motor delay	HP:0040283	ORPHA:65
9742	IFT140	HP:0001256	Intellectual disability, mild	2/11	OMIM:266920
9742	IFT140	HP:0001250	Seizure	HP:0040282	ORPHA:65
9742	IFT140	HP:0001250	Seizure	1/1	OMIM:266920
9742	IFT140	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
9742	IFT140	HP:0001252	Hypotonia	1/1	OMIM:266920
9742	IFT140	HP:0001252	Hypotonia	2/7	OMIM:615777
9742	IFT140	HP:0001251	Ataxia	-	OMIM:266920
9742	IFT140	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
9742	IFT140	HP:0001249	Intellectual disability	5/7	OMIM:615777
9742	IFT140	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
9742	IFT140	HP:0001263	Global developmental delay	HP:0040284	OMIM:617781
9742	IFT140	HP:0001263	Global developmental delay	2/3	OMIM:266920
9742	IFT140	HP:0001263	Global developmental delay	-	OMIM:615777
9742	IFT140	HP:0001230	Broad metacarpals	1/1	OMIM:266920
9742	IFT140	HP:0007401	Macular atrophy	3/8	OMIM:617781
9742	IFT140	HP:0100864	Short femoral neck	-	OMIM:266920
9742	IFT140	HP:0008672	Calcium oxalate nephrolithiasis	HP:0040283	ORPHA:730
9742	IFT140	HP:0002515	Waddling gait	54/102	OMIM:131300
9742	IFT140	HP:0000083	Renal insufficiency	HP:0040281	ORPHA:730
9742	IFT140	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:474
9742	IFT140	HP:0000090	Nephronophthisis	HP:0040283	ORPHA:474
9742	IFT140	HP:0000090	Nephronophthisis	1/1	OMIM:266920
9742	IFT140	HP:0001396	Cholestasis	3/11	OMIM:266920
9742	IFT140	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:474
9742	IFT140	HP:0001395	Hepatic fibrosis	-	OMIM:266920
9742	IFT140	HP:0000073	Ureteral duplication	1/1	OMIM:266920
9742	IFT140	HP:0001382	Joint hypermobility	-	OMIM:615777
9742	IFT140	HP:0001363	Craniosynostosis	2/11	OMIM:266920
9742	IFT140	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9742	IFT140	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9742	IFT140	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:474
9742	IFT140	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9742	IFT140	HP:0001324	Muscle weakness	40/96	OMIM:131300
9742	IFT140	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:730
9742	IFT140	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9742	IFT140	HP:0000007	Autosomal recessive inheritance	-	OMIM:617781
9742	IFT140	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
9742	IFT140	HP:0000007	Autosomal recessive inheritance	-	OMIM:266920
9742	IFT140	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9742	IFT140	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
9742	IFT140	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9742	IFT140	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:474
9742	IFT140	HP:0002650	Scoliosis	12/14	OMIM:131300
9742	IFT140	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9742	IFT140	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:474
9742	IFT140	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:730
9742	IFT140	HP:0002612	Congenital hepatic fibrosis	1/1	OMIM:266920
9742	IFT140	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9742	IFT140	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9742	IFT140	HP:0008905	Rhizomelia	1/1	OMIM:266920
9742	IFT140	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9742	IFT140	HP:0000193	Bifid uvula	1/1	OMIM:266920
9742	IFT140	HP:0000191	Accessory oral frenulum	1/1	OMIM:266920
9742	IFT140	HP:0000158	Macroglossia	1/1	OMIM:266920
9742	IFT140	HP:0000175	Cleft palate	2/7	OMIM:615777
9742	IFT140	HP:0000154	Wide mouth	2/2	OMIM:266920
9742	IFT140	HP:0001483	Eye poking	HP:0040282	ORPHA:65
9742	IFT140	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
9742	IFT140	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
9742	IFT140	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
9742	IFT140	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
9742	IFT140	HP:0000110	Renal dysplasia	-	OMIM:266920
9742	IFT140	HP:0000112	Nephropathy	HP:0040283	ORPHA:474
9742	IFT140	HP:0000107	Renal cyst	HP:0040281	ORPHA:730
9742	IFT140	HP:0000107	Renal cyst	3/3	OMIM:266920
9742	IFT140	HP:0001433	Hepatosplenomegaly	1/1	OMIM:266920
9742	IFT140	HP:0000105	Enlarged kidney	HP:0040283	ORPHA:730
9742	IFT140	HP:0001407	Hepatic cysts	HP:0040281	ORPHA:730
9742	IFT140	HP:0002007	Frontal bossing	1/1	OMIM:266920
9742	IFT140	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
9742	IFT140	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:474
9742	IFT140	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:266920
9742	IFT140	HP:0003388	Easy fatigability	36/76	OMIM:131300
9742	IFT140	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9742	IFT140	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040284	ORPHA:730
9742	IFT140	HP:0002119	Ventriculomegaly	1/1	OMIM:266920
9742	IFT140	HP:0009576	Absent middle phalanx of 2nd finger	1/1	OMIM:266920
9742	IFT140	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:474
9742	IFT140	HP:0003593	Infantile onset	4/11	OMIM:266920
9742	IFT140	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
9742	IFT140	HP:0003577	Congenital onset	5/10	OMIM:266920
9742	IFT140	HP:0002240	Hepatomegaly	2/10	OMIM:266920
9742	IFT140	HP:0100702	Arachnoid cyst	HP:0040283	ORPHA:730
9742	IFT140	HP:0002236	Frontal upsweep of hair	2/2	OMIM:266920
9742	IFT140	HP:0002209	Sparse scalp hair	1/1	OMIM:266920
9742	IFT140	HP:0002205	Recurrent respiratory infections	1/1	OMIM:266920
9742	IFT140	HP:0002286	Fair hair	1/1	OMIM:266920
9742	IFT140	HP:0003510	Severe short stature	7/7	OMIM:615777
9742	IFT140	HP:0002315	Headache	-	OMIM:131300
9742	IFT140	HP:0004976	Knee dislocation	6/7	OMIM:615777
9742	IFT140	HP:0009803	Short phalanx of finger	-	OMIM:615777
9742	IFT140	HP:0009803	Short phalanx of finger	1/1	OMIM:266920
9742	IFT140	HP:0010743	Short metatarsal	1/1	OMIM:266920
9742	IFT140	HP:0009763	Limb pain	63/92	OMIM:131300
9742	IFT140	HP:0003621	Juvenile onset	8/19	OMIM:180100
9742	IFT140	HP:0003621	Juvenile onset	3/8	OMIM:617781
9742	IFT140	HP:0003621	Juvenile onset	-	OMIM:131300
9742	IFT140	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:730
9742	IFT140	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9742	IFT140	HP:0004209	Clinodactyly of the 5th finger	1/1	OMIM:266920
9742	IFT140	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
9742	IFT140	HP:0005565	Reduced renal corticomedullary differentiation	1/2	OMIM:266920
9742	IFT140	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9742	IFT140	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:730
9742	IFT140	HP:0000639	Nystagmus	10/13	OMIM:266920
9742	IFT140	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
9742	IFT140	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
9742	IFT140	HP:6001056	Out-toeing	-	OMIM:131300
9742	IFT140	HP:0000651	Diplopia	-	OMIM:131300
9742	IFT140	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
9742	IFT140	HP:0000618	Blindness	HP:0040281	ORPHA:791
9742	IFT140	HP:0000618	Blindness	-	OMIM:617781
9742	IFT140	HP:0000613	Photophobia	HP:0040282	ORPHA:65
9742	IFT140	HP:0000613	Photophobia	HP:0040281	ORPHA:791
9742	IFT140	HP:0001956	Truncal obesity	2/7	OMIM:615777
9742	IFT140	HP:0000608	Macular degeneration	2/11	OMIM:266920
9742	IFT140	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
9742	IFT140	HP:0001903	Anemia	-	OMIM:266920
9742	IFT140	HP:0001903	Anemia	HP:0040283	OMIM:131300
9742	IFT140	HP:0001919	Acute kidney injury	1/1	OMIM:266920
9742	IFT140	HP:0010049	Short metacarpal	-	OMIM:615777
9742	IFT140	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
9742	IFT140	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
9742	IFT140	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
9742	IFT140	HP:0000678	Dental crowding	-	OMIM:615777
9742	IFT140	HP:0000691	Microdontia	1/1	OMIM:266920
9742	IFT140	HP:0000687	Widely spaced teeth	1/1	OMIM:266920
9742	IFT140	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
9742	IFT140	HP:0000662	Nyctalopia	1/1	OMIM:617781
9742	IFT140	HP:0000662	Nyctalopia	26/28	OMIM:180100
9742	IFT140	HP:0000670	Carious teeth	-	OMIM:131300
9742	IFT140	HP:0011304	Broad thumb	2/7	OMIM:615777
9742	IFT140	HP:0000668	Hypodontia	-	OMIM:615777
9742	IFT140	HP:0000664	Synophrys	-	OMIM:615777
9742	IFT140	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
9742	IFT140	HP:0004322	Short stature	8/12	OMIM:266920
9742	IFT140	HP:0004322	Short stature	HP:0040283	ORPHA:474
9742	IFT140	HP:0004396	Poor appetite	-	OMIM:131300
9742	IFT140	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9742	IFT140	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9742	IFT140	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
9742	IFT140	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9742	IFT140	HP:0003026	Short long bone	7/7	OMIM:615777
9742	IFT140	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9742	IFT140	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:474
9742	IFT140	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9742	IFT140	HP:0000766	Abnormal sternum morphology	HP:0040282	ORPHA:474
9742	IFT140	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9742	IFT140	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9742	IFT140	HP:0000750	Delayed speech and language development	-	OMIM:615777
9742	IFT140	HP:0000729	Autistic behavior	2/11	OMIM:266920
9742	IFT140	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
9742	IFT140	HP:0009162	Absent middle phalanx of 5th finger	1/1	OMIM:266920
9742	IFT140	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
9742	IFT140	HP:0011463	Childhood onset	3/19	OMIM:180100
9742	IFT140	HP:0011463	Childhood onset	2/10	OMIM:266920
9742	IFT140	HP:0011463	Childhood onset	2/9	OMIM:617781
9742	IFT140	HP:0011462	Young adult onset	4/8	OMIM:617781
9742	IFT140	HP:0011462	Young adult onset	8/19	OMIM:180100
9742	IFT140	HP:0011461	Fetal onset	7/7	OMIM:615777
9742	IFT140	HP:0000774	Narrow chest	HP:0040281	ORPHA:474
9742	IFT140	HP:0000774	Narrow chest	1/1	OMIM:266920
9742	IFT140	HP:0000774	Narrow chest	2/7	OMIM:615777
9742	IFT140	HP:0000773	Short ribs	3/9	OMIM:266920
9742	IFT140	HP:0000791	Uric acid nephrolithiasis	HP:0040283	ORPHA:730
9742	IFT140	HP:0000790	Hematuria	HP:0040282	ORPHA:730
9742	IFT140	HP:0030786	Photopsia	HP:0040283	ORPHA:791
9742	IFT140	HP:0030799	Scaphocephaly	1/11	OMIM:266920
9742	IFT140	HP:0000926	Platyspondyly	1/7	OMIM:615777
9742	IFT140	HP:0034281	Phalangeal cone-shaped epiphyses	10/10	OMIM:266920
9742	IFT140	HP:0003180	Flat acetabular roof	-	OMIM:615777
9742	IFT140	HP:0004482	Relative macrocephaly	-	OMIM:615777
9742	IFT140	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9742	IFT140	HP:0000889	Abnormal clavicle morphology	HP:0040282	ORPHA:474
9742	IFT140	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
9742	IFT140	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
9742	IFT140	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:266920
9742	IFT140	HP:0000822	Hypertension	2/2	OMIM:266920
9742	IFT140	HP:0000822	Hypertension	HP:0040282	ORPHA:730
9742	IFT140	HP:0000823	Delayed puberty	-	OMIM:131300
9742	IFT140	HP:0040022	Clinodactyly of the 2nd finger	1/1	OMIM:266920
9742	IFT140	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	HP:0040284	OMIM:617781
9742	IFT140	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	1/1	OMIM:266920
9742	IFT140	HP:0000894	Short clavicles	-	OMIM:615777
9742	IFT140	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9742	IFT140	HP:0003259	Elevated circulating creatinine concentration	HP:0040281	ORPHA:730
9742	IFT140	HP:0010306	Short thorax	HP:0040281	ORPHA:474
9742	IFT140	HP:0010306	Short thorax	3/8	OMIM:266920
9742	IFT140	HP:0000973	Cutis laxa	1/1	OMIM:266920
9742	IFT140	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9742	IFT140	HP:0000969	Edema	1/1	OMIM:266920
9742	IFT140	HP:0000963	Thin skin	1/1	OMIM:266920
9742	IFT140	HP:0000938	Osteopenia	1/1	OMIM:266920
9742	IFT140	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:474
9742	IFT140	HP:0005819	Short middle phalanx of finger	2/2	OMIM:266920
9742	IFT140	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
9742	IFT140	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:474
9742	IFT140	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
9742	IFT140	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
9742	IFT140	HP:0000286	Epicanthus	1/1	OMIM:266920
9742	IFT140	HP:0000286	Epicanthus	1/7	OMIM:615777
9742	IFT140	HP:0000280	Coarse facial features	2/7	OMIM:615777
9742	IFT140	HP:0000293	Full cheeks	1/1	OMIM:266920
9742	IFT140	HP:0000260	Wide anterior fontanel	1/1	OMIM:266920
9742	IFT140	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
9742	IFT140	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
9742	IFT140	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
9742	IFT140	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:617781
9742	IFT140	HP:0002827	Hip dislocation	3/7	OMIM:615777
9742	IFT140	HP:0000243	Trigonocephaly	1/1	OMIM:266920
9742	IFT140	HP:0000252	Microcephaly	3/11	OMIM:266920
9742	IFT140	HP:0000252	Microcephaly	-	OMIM:615777
9742	IFT140	HP:0012213	Decreased glomerular filtration rate	HP:0040281	ORPHA:730
9742	IFT140	HP:0012207	Reduced sperm motility	HP:0040283	ORPHA:730
9742	IFT140	HP:0000218	High palate	1/1	OMIM:266920
9742	IFT140	HP:0002857	Genu valgum	-	OMIM:131300
9742	IFT140	HP:0001537	Umbilical hernia	1/1	OMIM:266920
9742	IFT140	HP:0001533	Slender build	-	OMIM:131300
9742	IFT140	HP:0001508	Failure to thrive	1/1	OMIM:266920
9742	IFT140	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9742	IFT140	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
9742	IFT140	HP:0007843	Attenuation of retinal blood vessels	3/8	OMIM:617781
9742	IFT140	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
9742	IFT140	HP:0007843	Attenuation of retinal blood vessels	1/11	OMIM:266920
9742	IFT140	HP:0007807	Optic nerve compression	-	OMIM:131300
9742	IFT140	HP:0012368	Flat face	7/7	OMIM:615777
9742	IFT140	HP:0005257	Thoracic hypoplasia	2/2	OMIM:266920
9742	IFT140	HP:0006557	Polycystic liver disease	HP:0040283	ORPHA:730
9742	IFT140	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9742	IFT140	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
9742	IFT140	HP:0000365	Hearing impairment	10/67	OMIM:131300
9742	IFT140	HP:0000358	Posteriorly rotated ears	1/1	OMIM:266920
9742	IFT140	HP:0011004	Abnormal systemic arterial morphology	HP:0040283	ORPHA:730
9742	IFT140	HP:0000369	Low-set ears	2/3	OMIM:266920
9742	IFT140	HP:0000341	Narrow forehead	2/2	OMIM:266920
9742	IFT140	HP:0000343	Long philtrum	1/7	OMIM:615777
9742	IFT140	HP:0012330	Pyelonephritis	HP:0040283	ORPHA:730
9742	IFT140	HP:0011001	Increased bone mineral density	-	OMIM:131300
9742	IFT140	HP:0000348	High forehead	1/1	OMIM:266920
9742	IFT140	HP:0000347	Micrognathia	1/1	OMIM:266920
9742	IFT140	HP:0002983	Micromelia	HP:0040281	ORPHA:474
9742	IFT140	HP:0000319	Smooth philtrum	1/1	OMIM:266920
9742	IFT140	HP:0000316	Hypertelorism	1/1	OMIM:266920
9742	IFT140	HP:0000311	Round face	2/7	OMIM:615777
9742	IFT140	HP:0030151	Cholangitis	1/1	OMIM:266920
9742	IFT140	HP:0030157	Flank pain	HP:0040282	ORPHA:730
9742	IFT140	HP:0002970	Genu varum	-	OMIM:615777
9742	IFT140	HP:0000303	Mandibular prognathia	-	OMIM:131300
9742	IFT140	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:730
9742	IFT140	HP:0032988	Persistent head lag	1/1	OMIM:266920
9742	IFT140	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
9742	IFT140	HP:0007994	Peripheral visual field loss	1/1	OMIM:266920
9742	IFT140	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
9742	IFT140	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:730
9742	IFT140	HP:0001737	Pancreatic cysts	1/1	OMIM:266920
9742	IFT140	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
9742	IFT140	HP:0005280	Depressed nasal bridge	1/1	OMIM:266920
9742	IFT140	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9742	IFT140	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
9742	IFT140	HP:0000470	Short neck	1/1	OMIM:266920
9742	IFT140	HP:0000470	Short neck	1/7	OMIM:615777
9742	IFT140	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:474
9742	IFT140	HP:0001773	Short foot	HP:0040282	ORPHA:474
9742	IFT140	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
9742	IFT140	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
9742	IFT140	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9742	IFT140	HP:0001763	Pes planus	1/7	OMIM:615777
9742	IFT140	HP:0000431	Wide nasal bridge	1/1	OMIM:266920
9742	IFT140	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040283	ORPHA:474
9742	IFT140	HP:0005487	Prominent metopic ridge	1/1	OMIM:266920
9742	IFT140	HP:0000518	Cataract	1/2	OMIM:266920
9742	IFT140	HP:0000518	Cataract	HP:0040282	ORPHA:65
9742	IFT140	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
9742	IFT140	HP:0000510	Rod-cone dystrophy	2/2	OMIM:266920
9742	IFT140	HP:0001840	Metatarsus adductus	-	OMIM:615777
9742	IFT140	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
9742	IFT140	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
9742	IFT140	HP:0000529	Progressive visual loss	6/6	OMIM:617781
9742	IFT140	HP:0000520	Proptosis	2/4	OMIM:131300
9742	IFT140	HP:0000520	Proptosis	7/7	OMIM:615777
9742	IFT140	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
9742	IFT140	HP:0001830	Postaxial foot polydactyly	HP:0040283	ORPHA:474
9742	IFT140	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
9742	IFT140	HP:0001831	Short toe	1/1	OMIM:266920
9742	IFT140	HP:0012591	Abnormal urinary electrolyte concentration	HP:0040282	ORPHA:730
9742	IFT140	HP:0012592	Albuminuria	HP:0040282	ORPHA:730
9742	IFT140	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:266920
9742	IFT140	HP:0000575	Scotoma	5/18	OMIM:180100
9742	IFT140	HP:0000592	Blue sclerae	2/7	OMIM:615777
9742	IFT140	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
9742	IFT140	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
9742	IFT140	HP:0011220	Prominent forehead	1/2	OMIM:266920
9742	IFT140	HP:0000556	Retinal dystrophy	1/1	OMIM:266920
9742	IFT140	HP:0000572	Visual loss	-	OMIM:266920
9742	IFT140	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
9742	IFT140	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9742	IFT140	HP:0000550	Undetectable electroretinogram	6/9	OMIM:266920
9742	IFT140	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
9742	IFT140	HP:0012514	Lower limb pain	4/4	OMIM:131300
9742	IFT140	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
9742	IFT140	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
9742	IFT140	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
9742	IFT140	HP:0000543	Optic disc pallor	1/1	OMIM:180100
9742	IFT140	HP:0000545	Myopia	-	OMIM:180100
9750	RIPOR2	HP:0002403	Positive Romberg sign	0/6	OMIM:616515
9750	RIPOR2	HP:0001263	Global developmental delay	0/6	OMIM:616515
9750	RIPOR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616515
9750	RIPOR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:607017
9750	RIPOR2	HP:0003596	Middle age onset	10/41	OMIM:607017
9750	RIPOR2	HP:0003577	Congenital onset	1/41	OMIM:607017
9750	RIPOR2	HP:0003577	Congenital onset	6/6	OMIM:616515
9750	RIPOR2	HP:0003623	Neonatal onset	1/41	OMIM:607017
9750	RIPOR2	HP:0003621	Juvenile onset	8/41	OMIM:607017
9750	RIPOR2	HP:0000639	Nystagmus	0/6	OMIM:616515
9750	RIPOR2	HP:0011463	Childhood onset	2/41	OMIM:607017
9750	RIPOR2	HP:0011462	Young adult onset	19/41	OMIM:607017
9750	RIPOR2	HP:0004463	Absent brainstem auditory responses	6/6	OMIM:616515
9750	RIPOR2	HP:0000399	Prelingual sensorineural hearing impairment	6/6	OMIM:616515
9750	RIPOR2	HP:0000407	Sensorineural hearing impairment	-	OMIM:607017
9750	RIPOR2	HP:0001751	Abnormal vestibular function	0/6	OMIM:616515
9757	KMT2B	HP:0002465	Poor speech	1/1	OMIM:619934
9757	KMT2B	HP:0007325	Generalized dystonia	HP:0040281	ORPHA:589618
9757	KMT2B	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:589618
9757	KMT2B	HP:0010864	Intellectual disability, severe	1/1	OMIM:619934
9757	KMT2B	HP:0002425	Anarthria	HP:0040283	ORPHA:589618
9757	KMT2B	HP:0001270	Motor delay	2/6	OMIM:617284
9757	KMT2B	HP:0001288	Gait disturbance	-	OMIM:617284
9757	KMT2B	HP:0001256	Intellectual disability, mild	4/6	OMIM:617284
9757	KMT2B	HP:0001252	Hypotonia	2/9	OMIM:619934
9757	KMT2B	HP:0001249	Intellectual disability	HP:0040282	ORPHA:589618
9757	KMT2B	HP:0001249	Intellectual disability	9/9	OMIM:619934
9757	KMT2B	HP:0001260	Dysarthria	-	OMIM:617284
9757	KMT2B	HP:0001260	Dysarthria	HP:0040282	ORPHA:589618
9757	KMT2B	HP:0001263	Global developmental delay	8/8	OMIM:619934
9757	KMT2B	HP:0001263	Global developmental delay	4/6	OMIM:617284
9757	KMT2B	HP:0001257	Spasticity	HP:0040283	OMIM:617284
9757	KMT2B	HP:0002544	Retrocollis	-	OMIM:617284
9757	KMT2B	HP:0003829	Typified by incomplete penetrance	-	OMIM:617284
9757	KMT2B	HP:0001397	Hepatic steatosis	1/9	OMIM:619934
9757	KMT2B	HP:0012048	Oromandibular dystonia	HP:0040283	ORPHA:589618
9757	KMT2B	HP:0012048	Oromandibular dystonia	-	OMIM:617284
9757	KMT2B	HP:0012049	Laryngeal dystonia	-	OMIM:617284
9757	KMT2B	HP:0000020	Urinary incontinence	1/1	OMIM:619934
9757	KMT2B	HP:0001332	Dystonia	6/6	OMIM:617284
9757	KMT2B	HP:0001337	Tremor	1/6	OMIM:617284
9757	KMT2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:619934
9757	KMT2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:617284
9757	KMT2B	HP:0001336	Myoclonus	HP:0040283	OMIM:617284
9757	KMT2B	HP:0012179	Craniofacial dystonia	-	OMIM:617284
9757	KMT2B	HP:0000154	Wide mouth	1/1	OMIM:619934
9757	KMT2B	HP:0002719	Recurrent infections	1/9	OMIM:619934
9757	KMT2B	HP:0002020	Gastroesophageal reflux	1/9	OMIM:619934
9757	KMT2B	HP:0002019	Constipation	1/1	OMIM:619934
9757	KMT2B	HP:0004691	2-3 toe syndactyly	3/9	OMIM:619934
9757	KMT2B	HP:0002015	Dysphagia	HP:0040282	ORPHA:589618
9757	KMT2B	HP:0002007	Frontal bossing	1/9	OMIM:619934
9757	KMT2B	HP:0100543	Cognitive impairment	HP:0040283	OMIM:617284
9757	KMT2B	HP:0100704	Cerebral visual impairment	1/9	OMIM:619934
9757	KMT2B	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:589618
9757	KMT2B	HP:0007018	Attention deficit hyperactivity disorder	1/9	OMIM:619934
9757	KMT2B	HP:0011968	Feeding difficulties	-	ORPHA:589618
9757	KMT2B	HP:0011968	Feeding difficulties	1/1	OMIM:619934
9757	KMT2B	HP:0003676	Progressive	-	OMIM:617284
9757	KMT2B	HP:0003621	Juvenile onset	4/6	OMIM:617284
9757	KMT2B	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:589618
9757	KMT2B	HP:0004283	Narrow palm	1/1	OMIM:619934
9757	KMT2B	HP:0000639	Nystagmus	HP:0040283	ORPHA:589618
9757	KMT2B	HP:0000639	Nystagmus	1/1	OMIM:619934
9757	KMT2B	HP:0000629	Periorbital fullness	1/9	OMIM:619934
9757	KMT2B	HP:0010055	Broad hallux	1/1	OMIM:619934
9757	KMT2B	HP:0011344	Severe global developmental delay	1/1	OMIM:619934
9757	KMT2B	HP:0004322	Short stature	HP:0040282	ORPHA:589618
9757	KMT2B	HP:0004322	Short stature	3/6	OMIM:617284
9757	KMT2B	HP:0031959	Leg dystonia	HP:0040282	ORPHA:589618
9757	KMT2B	HP:0031960	Arm dystonia	HP:0040283	ORPHA:589618
9757	KMT2B	HP:0034197	Third trimester onset	1/1	OMIM:619934
9757	KMT2B	HP:0000739	Anxiety	HP:0040283	ORPHA:589618
9757	KMT2B	HP:0000750	Delayed speech and language development	4/6	OMIM:617284
9757	KMT2B	HP:0000716	Depression	HP:0040283	ORPHA:589618
9757	KMT2B	HP:0000729	Autistic behavior	HP:0040283	ORPHA:589618
9757	KMT2B	HP:0009183	Joint contracture of the 5th finger	5/9	OMIM:619934
9757	KMT2B	HP:0011463	Childhood onset	2/6	OMIM:617284
9757	KMT2B	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:589618
9757	KMT2B	HP:0003186	Inverted nipples	1/9	OMIM:619934
9757	KMT2B	HP:0000826	Precocious puberty	HP:0040283	ORPHA:589618
9757	KMT2B	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:589618
9757	KMT2B	HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	HP:0040281	ORPHA:589618
9757	KMT2B	HP:0008070	Sparse hair	1/1	OMIM:619934
9757	KMT2B	HP:0000286	Epicanthus	3/9	OMIM:619934
9757	KMT2B	HP:0000278	Retrognathia	1/9	OMIM:619934
9757	KMT2B	HP:0000293	Full cheeks	1/9	OMIM:619934
9757	KMT2B	HP:0000276	Long face	HP:0040283	ORPHA:589618
9757	KMT2B	HP:0000252	Microcephaly	HP:0040282	ORPHA:589618
9757	KMT2B	HP:0000252	Microcephaly	7/8	OMIM:619934
9757	KMT2B	HP:0000252	Microcephaly	4/6	OMIM:617284
9757	KMT2B	HP:0000218	High palate	1/1	OMIM:619934
9757	KMT2B	HP:0030051	Tip-toe gait	-	OMIM:617284
9757	KMT2B	HP:0001511	Intrauterine growth retardation	4/10	OMIM:619934
9757	KMT2B	HP:0000387	Absent earlobe	1/1	OMIM:619934
9757	KMT2B	HP:0001618	Dysphonia	HP:0040283	ORPHA:589618
9757	KMT2B	HP:0001618	Dysphonia	-	OMIM:617284
9757	KMT2B	HP:0000358	Posteriorly rotated ears	1/9	OMIM:619934
9757	KMT2B	HP:0001643	Patent ductus arteriosus	1/1	OMIM:619934
9757	KMT2B	HP:0000483	Astigmatism	3/6	OMIM:617284
9757	KMT2B	HP:0000483	Astigmatism	1/9	OMIM:619934
9757	KMT2B	HP:0000486	Strabismus	1/6	OMIM:617284
9757	KMT2B	HP:0000486	Strabismus	HP:0040284	ORPHA:589618
9757	KMT2B	HP:0000486	Strabismus	1/9	OMIM:619934
9757	KMT2B	HP:0000496	Abnormality of eye movement	HP:0040283	OMIM:617284
9757	KMT2B	HP:0000490	Deeply set eye	1/9	OMIM:619934
9757	KMT2B	HP:0000473	Torticollis	-	OMIM:617284
9757	KMT2B	HP:0000473	Torticollis	HP:0040282	ORPHA:589618
9757	KMT2B	HP:0000414	Bulbous nose	-	OMIM:617284
9757	KMT2B	HP:0000414	Bulbous nose	HP:0040283	ORPHA:589618
9757	KMT2B	HP:0000414	Bulbous nose	1/9	OMIM:619934
9757	KMT2B	HP:0000508	Ptosis	1/9	OMIM:619934
9757	KMT2B	HP:0000540	Hypermetropia	1/9	OMIM:619934
9758	FRMPD4	HP:0001250	Seizure	3/10	OMIM:300983
9758	FRMPD4	HP:0001251	Ataxia	2/4	OMIM:300983
9758	FRMPD4	HP:0001249	Intellectual disability	10/10	OMIM:300983
9758	FRMPD4	HP:0001263	Global developmental delay	10/10	OMIM:300983
9758	FRMPD4	HP:0001257	Spasticity	2/4	OMIM:300983
9758	FRMPD4	HP:0001347	Hyperreflexia	3/4	OMIM:300983
9758	FRMPD4	HP:0001344	Absent speech	3/10	OMIM:300983
9758	FRMPD4	HP:0001337	Tremor	2/4	OMIM:300983
9758	FRMPD4	HP:0001419	X-linked recessive inheritance	-	OMIM:300983
9758	FRMPD4	HP:0002079	Hypoplasia of the corpus callosum	1/10	OMIM:300983
9758	FRMPD4	HP:0002120	Cerebral cortical atrophy	2/10	OMIM:300983
9758	FRMPD4	HP:0002188	Delayed CNS myelination	1/10	OMIM:300983
9758	FRMPD4	HP:0002194	Delayed gross motor development	6/6	OMIM:300983
9758	FRMPD4	HP:0003593	Infantile onset	-	OMIM:300983
9758	FRMPD4	HP:0002236	Frontal upsweep of hair	1/8	OMIM:300983
9758	FRMPD4	HP:0000639	Nystagmus	2/9	OMIM:300983
9758	FRMPD4	HP:0000648	Optic atrophy	1/9	OMIM:300983
9758	FRMPD4	HP:0031936	Delayed ability to walk	4/10	OMIM:300983
9758	FRMPD4	HP:0000752	Hyperactivity	3/7	OMIM:300983
9758	FRMPD4	HP:0000750	Delayed speech and language development	10/10	OMIM:300983
9758	FRMPD4	HP:0000718	Aggressive behavior	3/7	OMIM:300983
9758	FRMPD4	HP:0000729	Autistic behavior	4/7	OMIM:300983
9758	FRMPD4	HP:0000817	Reduced eye contact	2/9	OMIM:300983
9758	FRMPD4	HP:0000278	Retrognathia	2/8	OMIM:300983
9758	FRMPD4	HP:0000243	Trigonocephaly	1/10	OMIM:300983
9758	FRMPD4	HP:0000218	High palate	1/8	OMIM:300983
9758	FRMPD4	HP:0000377	Abnormal pinna morphology	1/8	OMIM:300983
9758	FRMPD4	HP:0000348	High forehead	2/8	OMIM:300983
9758	FRMPD4	HP:0000486	Strabismus	3/7	OMIM:300983
9758	FRMPD4	HP:0000456	Bifid nasal tip	1/8	OMIM:300983
9758	FRMPD4	HP:0000431	Wide nasal bridge	1/8	OMIM:300983
9759	HDAC4	HP:0001187	Hyperextensibility of the finger joints	3/4	OMIM:619797
9759	HDAC4	HP:0001156	Brachydactyly	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9759	HDAC4	HP:0001293	Cranial nerve compression	-	OMIM:131300
9759	HDAC4	HP:0001272	Cerebellar atrophy	1/6	OMIM:619797
9759	HDAC4	HP:0001270	Motor delay	6/7	OMIM:600430
9759	HDAC4	HP:0001250	Seizure	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0001250	Seizure	2/7	OMIM:600430
9759	HDAC4	HP:0001250	Seizure	3/6	OMIM:619797
9759	HDAC4	HP:0001252	Hypotonia	HP:0040281	ORPHA:1001
9759	HDAC4	HP:0001252	Hypotonia	6/6	OMIM:619797
9759	HDAC4	HP:0001252	Hypotonia	2/7	OMIM:615777
9759	HDAC4	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1001
9759	HDAC4	HP:0001249	Intellectual disability	-	OMIM:600430
9759	HDAC4	HP:0001249	Intellectual disability	5/7	OMIM:615777
9759	HDAC4	HP:0001265	Hyporeflexia	-	OMIM:600430
9759	HDAC4	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1001
9759	HDAC4	HP:0001263	Global developmental delay	7/7	OMIM:600430
9759	HDAC4	HP:0001263	Global developmental delay	6/6	OMIM:619797
9759	HDAC4	HP:0001263	Global developmental delay	-	OMIM:615777
9759	HDAC4	HP:0002558	Supernumerary nipple	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0002553	Highly arched eyebrow	-	OMIM:600430
9759	HDAC4	HP:0002515	Waddling gait	54/102	OMIM:131300
9759	HDAC4	HP:0001374	Congenital hip dislocation	2/4	OMIM:619797
9759	HDAC4	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0001382	Joint hypermobility	-	OMIM:615777
9759	HDAC4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9759	HDAC4	HP:0000028	Cryptorchidism	1/4	OMIM:619797
9759	HDAC4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9759	HDAC4	HP:0033725	Thin corpus callosum	1/6	OMIM:619797
9759	HDAC4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9759	HDAC4	HP:0001324	Muscle weakness	40/96	OMIM:131300
9759	HDAC4	HP:0001344	Absent speech	3/6	OMIM:619797
9759	HDAC4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9759	HDAC4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9759	HDAC4	HP:0002667	Nephroblastoma	HP:0040283	ORPHA:1001
9759	HDAC4	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:1001
9759	HDAC4	HP:0000006	Autosomal dominant inheritance	-	OMIM:600430
9759	HDAC4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9759	HDAC4	HP:0000006	Autosomal dominant inheritance	-	OMIM:619797
9759	HDAC4	HP:0002650	Scoliosis	3/5	OMIM:619797
9759	HDAC4	HP:0002650	Scoliosis	12/14	OMIM:131300
9759	HDAC4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9759	HDAC4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9759	HDAC4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9759	HDAC4	HP:0012171	Stereotypical hand wringing	1/6	OMIM:600430
9759	HDAC4	HP:0000179	Thick lower lip vermilion	5/6	OMIM:619797
9759	HDAC4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9759	HDAC4	HP:0012166	Skin-picking	2/6	OMIM:600430
9759	HDAC4	HP:0000175	Cleft palate	2/7	OMIM:615777
9759	HDAC4	HP:0001476	Delayed closure of the anterior fontanelle	2/3	OMIM:619797
9759	HDAC4	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0002779	Tracheomalacia	HP:0040283	ORPHA:1001
9759	HDAC4	HP:0000126	Hydronephrosis	1/6	OMIM:619797
9759	HDAC4	HP:0001442	Typified by somatic mosaicism	-	OMIM:600430
9759	HDAC4	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:1001
9759	HDAC4	HP:0004689	Short fourth metatarsal	4/6	OMIM:600430
9759	HDAC4	HP:0002007	Frontal bossing	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0011800	Midface retrusion	5/6	OMIM:600430
9759	HDAC4	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1001
9759	HDAC4	HP:0002059	Cerebral atrophy	1/6	OMIM:619797
9759	HDAC4	HP:0003388	Easy fatigability	36/76	OMIM:131300
9759	HDAC4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9759	HDAC4	HP:0002119	Ventriculomegaly	2/6	OMIM:619797
9759	HDAC4	HP:0002104	Apnea	2/6	OMIM:619797
9759	HDAC4	HP:0003593	Infantile onset	3/6	OMIM:619797
9759	HDAC4	HP:0003577	Congenital onset	-	OMIM:600430
9759	HDAC4	HP:0002236	Frontal upsweep of hair	3/6	OMIM:619797
9759	HDAC4	HP:0100716	Self-injurious behavior	3/6	OMIM:600430
9759	HDAC4	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0007021	Pain insensitivity	-	OMIM:600430
9759	HDAC4	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:1001
9759	HDAC4	HP:0011968	Feeding difficulties	5/5	OMIM:619797
9759	HDAC4	HP:0011968	Feeding difficulties	1/6	OMIM:600430
9759	HDAC4	HP:0003510	Severe short stature	7/7	OMIM:615777
9759	HDAC4	HP:0002360	Sleep abnormality	3/4	OMIM:619797
9759	HDAC4	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:1001
9759	HDAC4	HP:0002360	Sleep abnormality	3/4	OMIM:600430
9759	HDAC4	HP:0002315	Headache	-	OMIM:131300
9759	HDAC4	HP:0004976	Knee dislocation	6/7	OMIM:615777
9759	HDAC4	HP:0009803	Short phalanx of finger	-	OMIM:600430
9759	HDAC4	HP:0009803	Short phalanx of finger	-	OMIM:615777
9759	HDAC4	HP:0200055	Small hand	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0010761	Broad columella	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0009763	Limb pain	63/92	OMIM:131300
9759	HDAC4	HP:0003623	Neonatal onset	2/6	OMIM:619797
9759	HDAC4	HP:0002307	Drooling	6/6	OMIM:619797
9759	HDAC4	HP:0003621	Juvenile onset	-	OMIM:131300
9759	HDAC4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9759	HDAC4	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0004279	Short palm	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9759	HDAC4	HP:0000637	Long palpebral fissure	5/6	OMIM:619797
9759	HDAC4	HP:6001056	Out-toeing	-	OMIM:131300
9759	HDAC4	HP:0000651	Diplopia	-	OMIM:131300
9759	HDAC4	HP:0000646	Amblyopia	1/4	OMIM:619797
9759	HDAC4	HP:0001956	Truncal obesity	2/7	OMIM:615777
9759	HDAC4	HP:0001903	Anemia	HP:0040283	OMIM:131300
9759	HDAC4	HP:0010049	Short metacarpal	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0010049	Short metacarpal	-	OMIM:615777
9759	HDAC4	HP:0010049	Short metacarpal	-	OMIM:600430
9759	HDAC4	HP:0000684	Delayed eruption of teeth	2/6	OMIM:619797
9759	HDAC4	HP:0000678	Dental crowding	-	OMIM:615777
9759	HDAC4	HP:0000687	Widely spaced teeth	4/5	OMIM:619797
9759	HDAC4	HP:0000670	Carious teeth	-	OMIM:131300
9759	HDAC4	HP:0011304	Broad thumb	2/7	OMIM:615777
9759	HDAC4	HP:0000668	Hypodontia	-	OMIM:615777
9759	HDAC4	HP:0000664	Synophrys	-	OMIM:615777
9759	HDAC4	HP:0004322	Short stature	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0004322	Short stature	-	OMIM:600430
9759	HDAC4	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0004396	Poor appetite	-	OMIM:131300
9759	HDAC4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9759	HDAC4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9759	HDAC4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9759	HDAC4	HP:0003026	Short long bone	7/7	OMIM:615777
9759	HDAC4	HP:0031936	Delayed ability to walk	5/6	OMIM:619797
9759	HDAC4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9759	HDAC4	HP:0000752	Hyperactivity	-	OMIM:600430
9759	HDAC4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9759	HDAC4	HP:0000768	Pectus carinatum	1/6	OMIM:619797
9759	HDAC4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9759	HDAC4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9759	HDAC4	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:1001
9759	HDAC4	HP:0000733	Motor stereotypy	3/3	OMIM:600430
9759	HDAC4	HP:0000750	Delayed speech and language development	6/6	OMIM:619797
9759	HDAC4	HP:0000750	Delayed speech and language development	7/7	OMIM:600430
9759	HDAC4	HP:0000750	Delayed speech and language development	-	OMIM:615777
9759	HDAC4	HP:0000718	Aggressive behavior	2/6	OMIM:600430
9759	HDAC4	HP:0000717	Autism	HP:0040283	ORPHA:1001
9759	HDAC4	HP:0000729	Autistic behavior	1/6	OMIM:600430
9759	HDAC4	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:1001
9759	HDAC4	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0011463	Childhood onset	1/6	OMIM:619797
9759	HDAC4	HP:0011461	Fetal onset	7/7	OMIM:615777
9759	HDAC4	HP:0000774	Narrow chest	2/7	OMIM:615777
9759	HDAC4	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:1001
9759	HDAC4	HP:0000926	Platyspondyly	1/7	OMIM:615777
9759	HDAC4	HP:0003180	Flat acetabular roof	-	OMIM:615777
9759	HDAC4	HP:0004482	Relative macrocephaly	-	OMIM:615777
9759	HDAC4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9759	HDAC4	HP:0000821	Hypothyroidism	2/7	OMIM:600430
9759	HDAC4	HP:0000823	Delayed puberty	-	OMIM:131300
9759	HDAC4	HP:0000894	Short clavicles	-	OMIM:615777
9759	HDAC4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9759	HDAC4	HP:0005863	Type E brachydactyly	5/6	OMIM:600430
9759	HDAC4	HP:0045075	Sparse eyebrow	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9759	HDAC4	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0000964	Eczematoid dermatitis	-	OMIM:600430
9759	HDAC4	HP:0045025	Narrow palpebral fissure	-	OMIM:600430
9759	HDAC4	HP:0011675	Arrhythmia	HP:0040283	OMIM:600430
9759	HDAC4	HP:0000286	Epicanthus	1/7	OMIM:615777
9759	HDAC4	HP:0000283	Broad face	7/7	OMIM:600430
9759	HDAC4	HP:0000280	Coarse facial features	2/7	OMIM:615777
9759	HDAC4	HP:0000280	Coarse facial features	-	OMIM:600430
9759	HDAC4	HP:0000256	Macrocephaly	HP:0040283	ORPHA:1001
9759	HDAC4	HP:0000272	Malar flattening	5/6	OMIM:600430
9759	HDAC4	HP:0002827	Hip dislocation	2/4	OMIM:619797
9759	HDAC4	HP:0002827	Hip dislocation	3/7	OMIM:615777
9759	HDAC4	HP:0002808	Kyphosis	2/5	OMIM:619797
9759	HDAC4	HP:0000252	Microcephaly	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0000252	Microcephaly	-	OMIM:615777
9759	HDAC4	HP:0000248	Brachycephaly	3/4	OMIM:600430
9759	HDAC4	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0002857	Genu valgum	-	OMIM:131300
9759	HDAC4	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0001533	Slender build	-	OMIM:131300
9759	HDAC4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9759	HDAC4	HP:0001513	Obesity	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0001513	Obesity	5/7	OMIM:600430
9759	HDAC4	HP:0007807	Optic nerve compression	-	OMIM:131300
9759	HDAC4	HP:0012368	Flat face	7/7	OMIM:615777
9759	HDAC4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9759	HDAC4	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:1001
9759	HDAC4	HP:0000365	Hearing impairment	10/67	OMIM:131300
9759	HDAC4	HP:0000343	Long philtrum	1/7	OMIM:615777
9759	HDAC4	HP:0011001	Increased bone mineral density	-	OMIM:131300
9759	HDAC4	HP:0001682	Subvalvular aortic stenosis	1/7	OMIM:600430
9759	HDAC4	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:1001
9759	HDAC4	HP:0000316	Hypertelorism	4/5	OMIM:619797
9759	HDAC4	HP:0001643	Patent ductus arteriosus	1/6	OMIM:619797
9759	HDAC4	HP:0000311	Round face	HP:0040281	ORPHA:1001
9759	HDAC4	HP:0000311	Round face	2/7	OMIM:615777
9759	HDAC4	HP:0000311	Round face	-	OMIM:600430
9759	HDAC4	HP:0002970	Genu varum	-	OMIM:615777
9759	HDAC4	HP:0000303	Mandibular prognathia	-	OMIM:131300
9759	HDAC4	HP:0006610	Wide intermamillary distance	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:600430
9759	HDAC4	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:1001
9759	HDAC4	HP:0000400	Macrotia	3/5	OMIM:619797
9759	HDAC4	HP:0005280	Depressed nasal bridge	-	OMIM:600430
9759	HDAC4	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9759	HDAC4	HP:0000483	Astigmatism	2/4	OMIM:619797
9759	HDAC4	HP:0012469	Infantile spasms	1/6	OMIM:619797
9759	HDAC4	HP:0000490	Deeply set eye	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0000490	Deeply set eye	-	OMIM:600430
9759	HDAC4	HP:0000463	Anteverted nares	4/6	OMIM:600430
9759	HDAC4	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0000455	Broad nasal tip	5/6	OMIM:600430
9759	HDAC4	HP:0000470	Short neck	HP:0040283	ORPHA:1001
9759	HDAC4	HP:0000470	Short neck	1/7	OMIM:615777
9759	HDAC4	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0001773	Short foot	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9759	HDAC4	HP:0001763	Pes planus	1/7	OMIM:615777
9759	HDAC4	HP:0000445	Wide nose	-	OMIM:600430
9759	HDAC4	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0001840	Metatarsus adductus	-	OMIM:615777
9759	HDAC4	HP:0000520	Proptosis	2/4	OMIM:131300
9759	HDAC4	HP:0000520	Proptosis	7/7	OMIM:615777
9759	HDAC4	HP:0001831	Short toe	-	OMIM:600430
9759	HDAC4	HP:0000582	Upslanted palpebral fissure	4/6	OMIM:600430
9759	HDAC4	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:1001
9759	HDAC4	HP:0000581	Blepharophimosis	-	OMIM:600430
9759	HDAC4	HP:0000592	Blue sclerae	2/7	OMIM:615777
9759	HDAC4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9759	HDAC4	HP:0012514	Lower limb pain	4/4	OMIM:131300
9772	TMEM94	HP:0008577	Underfolded helix	2/10	OMIM:618316
9772	TMEM94	HP:0001290	Generalized hypotonia	2/10	OMIM:618316
9772	TMEM94	HP:0100807	Long fingers	3/10	OMIM:618316
9772	TMEM94	HP:0001270	Motor delay	9/10	OMIM:618316
9772	TMEM94	HP:0001263	Global developmental delay	-	OMIM:618316
9772	TMEM94	HP:0002566	Intestinal malrotation	1/10	OMIM:618316
9772	TMEM94	HP:0007359	Focal-onset seizure	1/10	OMIM:618316
9772	TMEM94	HP:0002553	Highly arched eyebrow	10/10	OMIM:618316
9772	TMEM94	HP:0000047	Hypospadias	1/4	OMIM:618316
9772	TMEM94	HP:0000028	Cryptorchidism	1/4	OMIM:618316
9772	TMEM94	HP:0001328	Specific learning disability	10/10	OMIM:618316
9772	TMEM94	HP:0000007	Autosomal recessive inheritance	-	OMIM:618316
9772	TMEM94	HP:0002650	Scoliosis	3/10	OMIM:618316
9772	TMEM94	HP:0002020	Gastroesophageal reflux	1/10	OMIM:618316
9772	TMEM94	HP:0002089	Pulmonary hypoplasia	-	OMIM:618316
9772	TMEM94	HP:0002069	Bilateral tonic-clonic seizure	1/10	OMIM:618316
9772	TMEM94	HP:0010557	Overlapping fingers	-	OMIM:618316
9772	TMEM94	HP:0010511	Long toe	2/10	OMIM:618316
9772	TMEM94	HP:0002263	Exaggerated cupid's bow	2/10	OMIM:618316
9772	TMEM94	HP:0003577	Congenital onset	10/10	OMIM:618316
9772	TMEM94	HP:0002205	Recurrent respiratory infections	2/10	OMIM:618316
9772	TMEM94	HP:0009748	Large earlobe	10/10	OMIM:618316
9772	TMEM94	HP:0007099	Chiari type I malformation	1/7	OMIM:618316
9772	TMEM94	HP:0004935	Pulmonary artery atresia	1/10	OMIM:618316
9772	TMEM94	HP:0030451	Mesenteric cyst	1/10	OMIM:618316
9772	TMEM94	HP:0000664	Synophrys	10/10	OMIM:618316
9772	TMEM94	HP:0031936	Delayed ability to walk	-	OMIM:618316
9772	TMEM94	HP:0000767	Pectus excavatum	2/10	OMIM:618316
9772	TMEM94	HP:0012725	Cutaneous syndactyly	-	OMIM:618316
9772	TMEM94	HP:0000750	Delayed speech and language development	10/10	OMIM:618316
9772	TMEM94	HP:0003196	Short nose	8/10	OMIM:618316
9772	TMEM94	HP:0011571	Parachute mitral valve	1/10	OMIM:618316
9772	TMEM94	HP:0000998	Hypertrichosis	10/10	OMIM:618316
9772	TMEM94	HP:0000256	Macrocephaly	-	OMIM:618316
9772	TMEM94	HP:0000219	Thin upper lip vermilion	6/10	OMIM:618316
9772	TMEM94	HP:0001539	Omphalocele	1/10	OMIM:618316
9772	TMEM94	HP:0000358	Posteriorly rotated ears	2/10	OMIM:618316
9772	TMEM94	HP:0000369	Low-set ears	8/10	OMIM:618316
9772	TMEM94	HP:0000343	Long philtrum	7/10	OMIM:618316
9772	TMEM94	HP:0000319	Smooth philtrum	1/10	OMIM:618316
9772	TMEM94	HP:0000316	Hypertelorism	-	OMIM:618316
9772	TMEM94	HP:0001643	Patent ductus arteriosus	3/10	OMIM:618316
9772	TMEM94	HP:0000322	Short philtrum	2/10	OMIM:618316
9772	TMEM94	HP:0000325	Triangular face	10/10	OMIM:618316
9772	TMEM94	HP:0001655	Patent foramen ovale	1/10	OMIM:618316
9772	TMEM94	HP:0001629	Ventricular septal defect	6/10	OMIM:618316
9772	TMEM94	HP:0001636	Tetralogy of Fallot	2/10	OMIM:618316
9772	TMEM94	HP:0000307	Pointed chin	10/10	OMIM:618316
9772	TMEM94	HP:0001631	Atrial septal defect	6/10	OMIM:618316
9772	TMEM94	HP:0006610	Wide intermamillary distance	2/10	OMIM:618316
9772	TMEM94	HP:0001719	Double outlet right ventricle	2/10	OMIM:618316
9772	TMEM94	HP:0005280	Depressed nasal bridge	8/10	OMIM:618316
9772	TMEM94	HP:0000486	Strabismus	2/9	OMIM:618316
9772	TMEM94	HP:0000490	Deeply set eye	-	OMIM:618316
9772	TMEM94	HP:0000463	Anteverted nares	-	OMIM:618316
9772	TMEM94	HP:0000465	Webbed neck	1/10	OMIM:618316
9772	TMEM94	HP:0000448	Prominent nose	2/10	OMIM:618316
9772	TMEM94	HP:0000431	Wide nasal bridge	-	OMIM:618316
9772	TMEM94	HP:0001845	Overlapping toe	2/10	OMIM:618316
9772	TMEM94	HP:0000545	Myopia	-	OMIM:618316
9775	EIF4A3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9775	EIF4A3	HP:0001293	Cranial nerve compression	-	OMIM:131300
9775	EIF4A3	HP:0001252	Hypotonia	2/7	OMIM:615777
9775	EIF4A3	HP:0001249	Intellectual disability	5/7	OMIM:615777
9775	EIF4A3	HP:0001263	Global developmental delay	11/25	OMIM:268305
9775	EIF4A3	HP:0001263	Global developmental delay	-	OMIM:615777
9775	EIF4A3	HP:0001245	Small thenar eminence	20/24	OMIM:268305
9775	EIF4A3	HP:0001245	Small thenar eminence	HP:0040282	ORPHA:3102
9775	EIF4A3	HP:0008753	Aplasia of the epiglottis	-	OMIM:268305
9775	EIF4A3	HP:0008744	Abnormal aryepiglottic fold morphology	HP:0040283	ORPHA:3102
9775	EIF4A3	HP:0008744	Abnormal aryepiglottic fold morphology	-	OMIM:268305
9775	EIF4A3	HP:0002515	Waddling gait	54/102	OMIM:131300
9775	EIF4A3	HP:0008807	Acetabular dysplasia	HP:0040283	OMIM:268305
9775	EIF4A3	HP:0001382	Joint hypermobility	-	OMIM:615777
9775	EIF4A3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9775	EIF4A3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9775	EIF4A3	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:3102
9775	EIF4A3	HP:0001328	Specific learning disability	HP:0040283	ORPHA:3102
9775	EIF4A3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9775	EIF4A3	HP:0001324	Muscle weakness	40/96	OMIM:131300
9775	EIF4A3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9775	EIF4A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:268305
9775	EIF4A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9775	EIF4A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9775	EIF4A3	HP:0002650	Scoliosis	12/14	OMIM:131300
9775	EIF4A3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9775	EIF4A3	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:3102
9775	EIF4A3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9775	EIF4A3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9775	EIF4A3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9775	EIF4A3	HP:0000193	Bifid uvula	HP:0040283	ORPHA:3102
9775	EIF4A3	HP:0000193	Bifid uvula	-	OMIM:268305
9775	EIF4A3	HP:0000160	Narrow mouth	52/53	OMIM:268305
9775	EIF4A3	HP:0000175	Cleft palate	19/24	OMIM:268305
9775	EIF4A3	HP:0000175	Cleft palate	2/7	OMIM:615777
9775	EIF4A3	HP:0005011	Mesomelic arm shortening	HP:0040282	ORPHA:3102
9775	EIF4A3	HP:0005011	Mesomelic arm shortening	14/27	OMIM:268305
9775	EIF4A3	HP:0006355	Agenesis of mandibular central incisor	HP:0040281	ORPHA:3102
9775	EIF4A3	HP:0006355	Agenesis of mandibular central incisor	20/25	OMIM:268305
9775	EIF4A3	HP:0003388	Easy fatigability	36/76	OMIM:131300
9775	EIF4A3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9775	EIF4A3	HP:0010487	Small hypothenar eminence	20/24	OMIM:268305
9775	EIF4A3	HP:0009486	Radial deviation of the hand	-	OMIM:268305
9775	EIF4A3	HP:0009623	Proximal placement of thumb	14/26	OMIM:268305
9775	EIF4A3	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040281	ORPHA:3102
9775	EIF4A3	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	HP:0040283	ORPHA:3102
9775	EIF4A3	HP:0100499	Tibial deviation of toes	24/26	OMIM:268305
9775	EIF4A3	HP:0003577	Congenital onset	28/28	OMIM:268305
9775	EIF4A3	HP:0200154	Agenesis of mandibular lateral incisor	HP:0040282	ORPHA:3102
9775	EIF4A3	HP:0011968	Feeding difficulties	20/26	OMIM:268305
9775	EIF4A3	HP:0003510	Severe short stature	7/7	OMIM:615777
9775	EIF4A3	HP:0002315	Headache	-	OMIM:131300
9775	EIF4A3	HP:0004976	Knee dislocation	6/7	OMIM:615777
9775	EIF4A3	HP:0004987	Mesomelic leg shortening	HP:0040282	ORPHA:3102
9775	EIF4A3	HP:0004987	Mesomelic leg shortening	24/27	OMIM:268305
9775	EIF4A3	HP:0009803	Short phalanx of finger	-	OMIM:615777
9775	EIF4A3	HP:0009803	Short phalanx of finger	-	OMIM:268305
9775	EIF4A3	HP:0010752	Cleft mandible	HP:0040282	ORPHA:3102
9775	EIF4A3	HP:0010752	Cleft mandible	22/26	OMIM:268305
9775	EIF4A3	HP:0009778	Short thumb	26/27	OMIM:268305
9775	EIF4A3	HP:0009763	Limb pain	63/92	OMIM:131300
9775	EIF4A3	HP:0003621	Juvenile onset	-	OMIM:131300
9775	EIF4A3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9775	EIF4A3	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:3102
9775	EIF4A3	HP:0004209	Clinodactyly of the 5th finger	18/27	OMIM:268305
9775	EIF4A3	HP:0009094	Cleft lower alveolar ridge	-	OMIM:268305
9775	EIF4A3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9775	EIF4A3	HP:6001056	Out-toeing	-	OMIM:131300
9775	EIF4A3	HP:0000651	Diplopia	-	OMIM:131300
9775	EIF4A3	HP:0001956	Truncal obesity	2/7	OMIM:615777
9775	EIF4A3	HP:0001903	Anemia	HP:0040283	OMIM:131300
9775	EIF4A3	HP:0010049	Short metacarpal	-	OMIM:615777
9775	EIF4A3	HP:0010049	Short metacarpal	-	OMIM:268305
9775	EIF4A3	HP:0000678	Dental crowding	-	OMIM:615777
9775	EIF4A3	HP:0000690	Agenesis of maxillary lateral incisor	HP:0040282	ORPHA:3102
9775	EIF4A3	HP:0000670	Carious teeth	-	OMIM:131300
9775	EIF4A3	HP:0011304	Broad thumb	2/7	OMIM:615777
9775	EIF4A3	HP:0000668	Hypodontia	-	OMIM:615777
9775	EIF4A3	HP:0000664	Synophrys	-	OMIM:615777
9775	EIF4A3	HP:0004322	Short stature	-	OMIM:268305
9775	EIF4A3	HP:0004322	Short stature	HP:0040282	ORPHA:3102
9775	EIF4A3	HP:0004396	Poor appetite	-	OMIM:131300
9775	EIF4A3	HP:0003038	Fibular hypoplasia	HP:0040282	ORPHA:3102
9775	EIF4A3	HP:0003038	Fibular hypoplasia	23/24	OMIM:268305
9775	EIF4A3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9775	EIF4A3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9775	EIF4A3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9775	EIF4A3	HP:0003026	Short long bone	7/7	OMIM:615777
9775	EIF4A3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9775	EIF4A3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9775	EIF4A3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9775	EIF4A3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9775	EIF4A3	HP:0000750	Delayed speech and language development	15/19	OMIM:268305
9775	EIF4A3	HP:0000750	Delayed speech and language development	-	OMIM:615777
9775	EIF4A3	HP:0012789	Hypoplasia of the calcaneus	HP:0040282	ORPHA:3102
9775	EIF4A3	HP:0011461	Fetal onset	7/7	OMIM:615777
9775	EIF4A3	HP:0010109	Short hallux	HP:0040281	ORPHA:3102
9775	EIF4A3	HP:0010109	Short hallux	28/28	OMIM:268305
9775	EIF4A3	HP:0000774	Narrow chest	2/7	OMIM:615777
9775	EIF4A3	HP:0005736	Short tibia	HP:0040282	ORPHA:3102
9775	EIF4A3	HP:0005736	Short tibia	-	OMIM:268305
9775	EIF4A3	HP:0000926	Platyspondyly	1/7	OMIM:615777
9775	EIF4A3	HP:0003180	Flat acetabular roof	-	OMIM:615777
9775	EIF4A3	HP:0004482	Relative macrocephaly	-	OMIM:615777
9775	EIF4A3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9775	EIF4A3	HP:0000823	Delayed puberty	-	OMIM:131300
9775	EIF4A3	HP:0000894	Short clavicles	-	OMIM:615777
9775	EIF4A3	HP:0009237	Short 5th finger	HP:0040282	ORPHA:3102
9775	EIF4A3	HP:0009237	Short 5th finger	23/27	OMIM:268305
9775	EIF4A3	HP:0005867	4-5 metacarpal synostosis	6/23	OMIM:268305
9775	EIF4A3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9775	EIF4A3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9775	EIF4A3	HP:0000286	Epicanthus	1/7	OMIM:615777
9775	EIF4A3	HP:0000280	Coarse facial features	2/7	OMIM:615777
9775	EIF4A3	HP:0002827	Hip dislocation	HP:0040283	OMIM:268305
9775	EIF4A3	HP:0002827	Hip dislocation	3/7	OMIM:615777
9775	EIF4A3	HP:0000252	Microcephaly	-	OMIM:615777
9775	EIF4A3	HP:0000218	High palate	-	OMIM:268305
9775	EIF4A3	HP:0002857	Genu valgum	-	OMIM:131300
9775	EIF4A3	HP:0001533	Slender build	-	OMIM:131300
9775	EIF4A3	HP:0000201	Pierre-Robin sequence	HP:0040282	ORPHA:3102
9775	EIF4A3	HP:0000201	Pierre-Robin sequence	22/28	OMIM:268305
9775	EIF4A3	HP:0030043	Hip subluxation	HP:0040283	OMIM:268305
9775	EIF4A3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9775	EIF4A3	HP:0007807	Optic nerve compression	-	OMIM:131300
9775	EIF4A3	HP:0011051	Agenesis of premolar	HP:0040283	ORPHA:3102
9775	EIF4A3	HP:0012368	Flat face	7/7	OMIM:615777
9775	EIF4A3	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:3102
9775	EIF4A3	HP:0006536	Airway obstruction	HP:0040282	ORPHA:3102
9775	EIF4A3	HP:0001609	Hoarse voice	HP:0040282	ORPHA:3102
9775	EIF4A3	HP:0001608	Abnormality of the voice	-	OMIM:268305
9775	EIF4A3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9775	EIF4A3	HP:0000365	Hearing impairment	10/67	OMIM:131300
9775	EIF4A3	HP:0000369	Low-set ears	-	OMIM:268305
9775	EIF4A3	HP:0000343	Long philtrum	1/7	OMIM:615777
9775	EIF4A3	HP:0011001	Increased bone mineral density	-	OMIM:131300
9775	EIF4A3	HP:0000347	Micrognathia	28/28	OMIM:268305
9775	EIF4A3	HP:0000311	Round face	2/7	OMIM:615777
9775	EIF4A3	HP:0002984	Hypoplasia of the radius	HP:0040282	ORPHA:3102
9775	EIF4A3	HP:0002984	Hypoplasia of the radius	24/24	OMIM:268305
9775	EIF4A3	HP:0002970	Genu varum	-	OMIM:615777
9775	EIF4A3	HP:0000308	Microretrognathia	HP:0040281	ORPHA:3102
9775	EIF4A3	HP:0000308	Microretrognathia	25/25	OMIM:268305
9775	EIF4A3	HP:0000303	Mandibular prognathia	-	OMIM:131300
9775	EIF4A3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9775	EIF4A3	HP:0000470	Short neck	1/7	OMIM:615777
9775	EIF4A3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9775	EIF4A3	HP:0001763	Pes planus	1/7	OMIM:615777
9775	EIF4A3	HP:0000448	Prominent nose	-	OMIM:268305
9775	EIF4A3	HP:0000411	Protruding ear	-	OMIM:268305
9775	EIF4A3	HP:0001762	Talipes equinovarus	HP:0040281	ORPHA:3102
9775	EIF4A3	HP:0001762	Talipes equinovarus	52/53	OMIM:268305
9775	EIF4A3	HP:0001840	Metatarsus adductus	-	OMIM:615777
9775	EIF4A3	HP:0000520	Proptosis	2/4	OMIM:131300
9775	EIF4A3	HP:0000520	Proptosis	7/7	OMIM:615777
9775	EIF4A3	HP:0000592	Blue sclerae	2/7	OMIM:615777
9775	EIF4A3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9775	EIF4A3	HP:0012514	Lower limb pain	4/4	OMIM:131300
9780	PIEZO1	HP:0032231	Hypochromia	HP:0040282	ORPHA:3202
9780	PIEZO1	HP:0002593	Intestinal lymphangiectasia	1/10	OMIM:616843
9780	PIEZO1	HP:0001263	Global developmental delay	-	OMIM:616843
9780	PIEZO1	HP:0007430	Generalized edema	-	OMIM:616843
9780	PIEZO1	HP:0010972	Anemia of inadequate production	HP:0040283	ORPHA:3202
9780	PIEZO1	HP:0000034	Hydrocele testis	-	OMIM:616843
9780	PIEZO1	HP:0031188	Genital edema	-	OMIM:616843
9780	PIEZO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616843
9780	PIEZO1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
9780	PIEZO1	HP:0000006	Autosomal dominant inheritance	-	OMIM:194380
9780	PIEZO1	HP:0002650	Scoliosis	-	OMIM:616843
9780	PIEZO1	HP:0002619	Varicose veins	-	OMIM:616843
9780	PIEZO1	HP:0002619	Varicose veins	-	OMIM:153400
9780	PIEZO1	HP:0002625	Deep venous thrombosis	1/10	OMIM:616843
9780	PIEZO1	HP:0000175	Cleft palate	5/39	OMIM:153400
9780	PIEZO1	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:3202
9780	PIEZO1	HP:0012115	Hepatitis	HP:0040283	OMIM:194380
9780	PIEZO1	HP:0002020	Gastroesophageal reflux	-	OMIM:616843
9780	PIEZO1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:3202
9780	PIEZO1	HP:0100539	Periorbital edema	-	OMIM:616843
9780	PIEZO1	HP:0030950	Pulmonary venous hypertension	HP:0040284	ORPHA:3202
9780	PIEZO1	HP:0008269	Increased red cell hemolysis by shear stress	-	OMIM:194380
9780	PIEZO1	HP:0003573	Increased total bilirubin	HP:0040282	ORPHA:3202
9780	PIEZO1	HP:0002240	Hepatomegaly	HP:0040283	OMIM:194380
9780	PIEZO1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
9780	PIEZO1	HP:0002202	Pleural effusion	1/10	OMIM:616843
9780	PIEZO1	HP:0009743	Distichiasis	42/42	OMIM:153400
9780	PIEZO1	HP:0004804	Congenital hemolytic anemia	HP:0040283	ORPHA:3202
9780	PIEZO1	HP:0001046	Intermittent jaundice	HP:0040283	ORPHA:3202
9780	PIEZO1	HP:0001004	Lymphedema	-	OMIM:616843
9780	PIEZO1	HP:0001004	Lymphedema	-	OMIM:153400
9780	PIEZO1	HP:0100658	Cellulitis	4/10	OMIM:616843
9780	PIEZO1	HP:0100658	Cellulitis	2/6	OMIM:153400
9780	PIEZO1	HP:0001081	Cholelithiasis	HP:0040283	OMIM:194380
9780	PIEZO1	HP:0001081	Cholelithiasis	HP:0040282	ORPHA:3202
9780	PIEZO1	HP:0003641	Hemoglobinuria	HP:0040283	OMIM:194380
9780	PIEZO1	HP:0032106	Conjunctival icterus	HP:0040284	OMIM:194380
9780	PIEZO1	HP:0005535	Exercise-induced hemolysis	-	OMIM:194380
9780	PIEZO1	HP:0005518	Increased mean corpuscular volume	HP:0040283	ORPHA:3202
9780	PIEZO1	HP:0005502	Increased red cell osmotic fragility	HP:0040281	ORPHA:3202
9780	PIEZO1	HP:0001981	Schistocytosis	HP:0040282	ORPHA:3202
9780	PIEZO1	HP:0001972	Macrocytic anemia	HP:0040282	ORPHA:3202
9780	PIEZO1	HP:0000613	Photophobia	10/49	OMIM:153400
9780	PIEZO1	HP:0001923	Reticulocytosis	-	OMIM:194380
9780	PIEZO1	HP:0001923	Reticulocytosis	HP:0040282	ORPHA:3202
9780	PIEZO1	HP:0001930	Nonspherocytic hemolytic anemia	HP:0040281	ORPHA:3202
9780	PIEZO1	HP:0001907	Thromboembolism	HP:0040283	ORPHA:3202
9780	PIEZO1	HP:0001900	Increased circulating hemoglobin concentration	HP:0040283	ORPHA:3202
9780	PIEZO1	HP:0001901	Polycythemia	HP:0040284	ORPHA:3202
9780	PIEZO1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
9780	PIEZO1	HP:0000656	Ectropion	2/43	OMIM:153400
9780	PIEZO1	HP:0004322	Short stature	1/10	OMIM:616843
9780	PIEZO1	HP:0004392	Prune belly	1/10	OMIM:616843
9780	PIEZO1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
9780	PIEZO1	HP:0000767	Pectus excavatum	-	OMIM:616843
9780	PIEZO1	HP:0012804	Corneal ulceration	-	OMIM:153400
9780	PIEZO1	HP:0000821	Hypothyroidism	-	OMIM:616843
9780	PIEZO1	HP:0003281	Increased circulating ferritin concentration	HP:0040283	OMIM:194380
9780	PIEZO1	HP:0003281	Increased circulating ferritin concentration	HP:0040282	ORPHA:3202
9780	PIEZO1	HP:0003265	Neonatal hyperbilirubinemia	HP:0040283	ORPHA:3202
9780	PIEZO1	HP:0010310	Chylothorax	1/6	OMIM:153400
9780	PIEZO1	HP:0010310	Chylothorax	2/10	OMIM:616843
9780	PIEZO1	HP:0000980	Pallor	HP:0040283	OMIM:194380
9780	PIEZO1	HP:0000952	Jaundice	HP:0040283	OMIM:194380
9780	PIEZO1	HP:0000969	Edema	-	OMIM:616843
9780	PIEZO1	HP:0000969	Edema	HP:0040283	ORPHA:3202
9780	PIEZO1	HP:0011675	Arrhythmia	-	OMIM:153400
9780	PIEZO1	HP:0000286	Epicanthus	3/10	OMIM:616843
9780	PIEZO1	HP:0000282	Facial edema	-	OMIM:616843
9780	PIEZO1	HP:0025548	Increased mean corpuscular hemoglobin concentration	-	OMIM:194380
9780	PIEZO1	HP:0025548	Increased mean corpuscular hemoglobin concentration	HP:0040283	ORPHA:3202
9780	PIEZO1	HP:0002808	Kyphosis	2/5	OMIM:153400
9780	PIEZO1	HP:0001561	Polyhydramnios	-	OMIM:616843
9780	PIEZO1	HP:0001541	Ascites	-	OMIM:616843
9780	PIEZO1	HP:0000204	Cleft upper lip	-	OMIM:153400
9780	PIEZO1	HP:0011042	Abnormal circulating potassium concentration	HP:0040282	ORPHA:3202
9780	PIEZO1	HP:0000378	Cupped ear	-	OMIM:616843
9780	PIEZO1	HP:0000377	Abnormal pinna morphology	-	OMIM:616843
9780	PIEZO1	HP:0000365	Hearing impairment	-	OMIM:616843
9780	PIEZO1	HP:0000347	Micrognathia	2/5	OMIM:153400
9780	PIEZO1	HP:0000347	Micrognathia	1/10	OMIM:616843
9780	PIEZO1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
9780	PIEZO1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
9780	PIEZO1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
9780	PIEZO1	HP:0001631	Atrial septal defect	1/10	OMIM:616843
9780	PIEZO1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
9780	PIEZO1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
9780	PIEZO1	HP:0001790	Nonimmune hydrops fetalis	-	OMIM:616843
9780	PIEZO1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
9780	PIEZO1	HP:0030242	Portal vein thrombosis	HP:0040284	ORPHA:3202
9780	PIEZO1	HP:0000465	Webbed neck	-	OMIM:616843
9780	PIEZO1	HP:0000465	Webbed neck	6/43	OMIM:153400
9780	PIEZO1	HP:0012431	Episodic fatigue	HP:0040283	ORPHA:3202
9780	PIEZO1	HP:0001744	Splenomegaly	HP:0040282	ORPHA:3202
9780	PIEZO1	HP:0001744	Splenomegaly	11/20	OMIM:616843
9780	PIEZO1	HP:0001744	Splenomegaly	HP:0040283	OMIM:194380
9780	PIEZO1	HP:0000509	Conjunctivitis	-	OMIM:153400
9780	PIEZO1	HP:0000508	Ptosis	2/39	OMIM:153400
9780	PIEZO1	HP:0000568	Microphthalmia	1/6	OMIM:153400
9780	PIEZO1	HP:0001878	Hemolytic anemia	HP:0040281	ORPHA:3202
9782	MATR3	HP:0002483	Bulbar signs	-	OMIM:606070
9782	MATR3	HP:0002463	Language impairment	HP:0040283	ORPHA:803
9782	MATR3	HP:0002460	Distal muscle weakness	12/12	OMIM:606070
9782	MATR3	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:600
9782	MATR3	HP:0003738	Exercise-induced myalgia	HP:0040282	ORPHA:600
9782	MATR3	HP:0001288	Gait disturbance	HP:0040282	ORPHA:600
9782	MATR3	HP:0001283	Bulbar palsy	-	OMIM:606070
9782	MATR3	HP:0001283	Bulbar palsy	HP:0040282	ORPHA:600
9782	MATR3	HP:0001260	Dysarthria	-	OMIM:606070
9782	MATR3	HP:0001260	Dysarthria	HP:0040282	ORPHA:600
9782	MATR3	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
9782	MATR3	HP:0001257	Spasticity	HP:0040282	ORPHA:803
9782	MATR3	HP:0008756	Bowing of the vocal cords	-	OMIM:606070
9782	MATR3	HP:0008756	Bowing of the vocal cords	HP:0040282	ORPHA:600
9782	MATR3	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
9782	MATR3	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:606070
9782	MATR3	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
9782	MATR3	HP:0007354	Amyotrophic lateral sclerosis	HP:0040282	ORPHA:600
9782	MATR3	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
9782	MATR3	HP:0003805	Rimmed vacuoles	5/6	OMIM:606070
9782	MATR3	HP:0003805	Rimmed vacuoles	HP:0040282	ORPHA:600
9782	MATR3	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
9782	MATR3	HP:0001347	Hyperreflexia	-	OMIM:606070
9782	MATR3	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:600
9782	MATR3	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
9782	MATR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:606070
9782	MATR3	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
9782	MATR3	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
9782	MATR3	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
9782	MATR3	HP:0001430	Abnormal calf musculature morphology	HP:0040282	ORPHA:600
9782	MATR3	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:606070
9782	MATR3	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:600
9782	MATR3	HP:0002015	Dysphagia	13/19	OMIM:606070
9782	MATR3	HP:0002015	Dysphagia	HP:0040282	ORPHA:600
9782	MATR3	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
9782	MATR3	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
9782	MATR3	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
9782	MATR3	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
9782	MATR3	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
9782	MATR3	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
9782	MATR3	HP:0005934	Imperfect vocal cord adduction	HP:0040282	ORPHA:600
9782	MATR3	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:600
9782	MATR3	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
9782	MATR3	HP:0003470	Paralysis	HP:0040282	ORPHA:803
9782	MATR3	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
9782	MATR3	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
9782	MATR3	HP:0003457	EMG abnormality	HP:0040282	ORPHA:600
9782	MATR3	HP:0002127	Abnormal upper motor neuron morphology	-	OMIM:606070
9782	MATR3	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
9782	MATR3	HP:0003596	Middle age onset	10/12	OMIM:606070
9782	MATR3	HP:0003581	Adult onset	34/34	OMIM:606070
9782	MATR3	HP:0003547	Shoulder girdle muscle weakness	12/36	OMIM:606070
9782	MATR3	HP:0003547	Shoulder girdle muscle weakness	HP:0040283	ORPHA:600
9782	MATR3	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:606070
9782	MATR3	HP:0430015	Abnormal morphology of musculature of pharynx	HP:0040282	ORPHA:600
9782	MATR3	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
9782	MATR3	HP:0002366	Abnormal lower motor neuron morphology	-	OMIM:606070
9782	MATR3	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
9782	MATR3	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
9782	MATR3	HP:0003687	Centrally nucleated skeletal muscle fibers	3/6	OMIM:606070
9782	MATR3	HP:0002317	Unsteady gait	HP:0040282	ORPHA:600
9782	MATR3	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
9782	MATR3	HP:0007149	Distal upper limb amyotrophy	HP:0040283	ORPHA:600
9782	MATR3	HP:0002307	Drooling	HP:0040282	ORPHA:803
9782	MATR3	HP:0009071	Inflammatory myopathy	-	ORPHA:600
9782	MATR3	HP:0009053	Distal lower limb muscle weakness	23/24	OMIM:606070
9782	MATR3	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
9782	MATR3	HP:0004326	Cachexia	HP:0040283	ORPHA:803
9782	MATR3	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
9782	MATR3	HP:0000762	Decreased nerve conduction velocity	3/7	OMIM:606070
9782	MATR3	HP:0000762	Decreased nerve conduction velocity	HP:0040284	ORPHA:600
9782	MATR3	HP:0000739	Anxiety	HP:0040282	ORPHA:803
9782	MATR3	HP:0000716	Depression	HP:0040282	ORPHA:803
9782	MATR3	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
9782	MATR3	HP:0000726	Dementia	HP:0040283	OMIM:606070
9782	MATR3	HP:0000726	Dementia	HP:0040284	ORPHA:600
9782	MATR3	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
9782	MATR3	HP:0011462	Young adult onset	2/12	OMIM:606070
9782	MATR3	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
9782	MATR3	HP:0003236	Elevated circulating creatine kinase concentration	7/11	OMIM:606070
9782	MATR3	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
9782	MATR3	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
9782	MATR3	HP:0008049	Abnormality of the extraocular muscles	HP:0040283	ORPHA:600
9782	MATR3	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
9782	MATR3	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
9782	MATR3	HP:0031374	Ankle weakness	HP:0040282	ORPHA:600
9782	MATR3	HP:0002835	Aspiration	-	OMIM:606070
9782	MATR3	HP:0002835	Aspiration	HP:0040282	ORPHA:600
9782	MATR3	HP:0012378	Fatigue	HP:0040282	ORPHA:803
9782	MATR3	HP:0001609	Hoarse voice	-	OMIM:606070
9782	MATR3	HP:0001609	Hoarse voice	HP:0040282	ORPHA:600
9782	MATR3	HP:0002936	Distal sensory impairment	HP:0040283	OMIM:606070
9782	MATR3	HP:0002936	Distal sensory impairment	HP:0040284	ORPHA:600
9782	MATR3	HP:0001604	Vocal cord paresis	HP:0040282	ORPHA:600
9782	MATR3	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
9782	MATR3	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
9782	MATR3	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
9782	MATR3	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
9782	MATR3	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:600
9782	MATR3	HP:0001621	Weak voice	HP:0040282	ORPHA:600
9782	MATR3	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
9782	MATR3	HP:0030237	Hand muscle weakness	20/24	OMIM:606070
9782	MATR3	HP:0001824	Weight loss	HP:0040282	ORPHA:803
9782	MATR3	HP:0012531	Pain	HP:0040282	ORPHA:803
9785	DHX38	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
9785	DHX38	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
9785	DHX38	HP:0001116	Macular coloboma	1/1	OMIM:618220
9785	DHX38	HP:0007401	Macular atrophy	1/1	OMIM:618220
9785	DHX38	HP:0000007	Autosomal recessive inheritance	-	OMIM:618220
9785	DHX38	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
9785	DHX38	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
9785	DHX38	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
9785	DHX38	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
9785	DHX38	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
9785	DHX38	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
9785	DHX38	HP:0003621	Juvenile onset	8/19	OMIM:180100
9785	DHX38	HP:0030553	Visual acuity no light perception	4/4	OMIM:618220
9785	DHX38	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
9785	DHX38	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
9785	DHX38	HP:0000618	Blindness	HP:0040281	ORPHA:791
9785	DHX38	HP:0000613	Photophobia	HP:0040281	ORPHA:791
9785	DHX38	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
9785	DHX38	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
9785	DHX38	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
9785	DHX38	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
9785	DHX38	HP:0000662	Nyctalopia	4/4	OMIM:618220
9785	DHX38	HP:0000662	Nyctalopia	26/28	OMIM:180100
9785	DHX38	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
9785	DHX38	HP:0011463	Childhood onset	3/19	OMIM:180100
9785	DHX38	HP:0011463	Childhood onset	4/4	OMIM:618220
9785	DHX38	HP:0011462	Young adult onset	8/19	OMIM:180100
9785	DHX38	HP:0030786	Photopsia	HP:0040283	ORPHA:791
9785	DHX38	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
9785	DHX38	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
9785	DHX38	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
9785	DHX38	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
9785	DHX38	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
9785	DHX38	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
9785	DHX38	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:618220
9785	DHX38	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
9785	DHX38	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
9785	DHX38	HP:0007843	Attenuation of retinal blood vessels	1/1	OMIM:618220
9785	DHX38	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
9785	DHX38	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
9785	DHX38	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
9785	DHX38	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
9785	DHX38	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
9785	DHX38	HP:0000518	Cataract	HP:0040284	OMIM:618220
9785	DHX38	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
9785	DHX38	HP:0000510	Rod-cone dystrophy	4/4	OMIM:618220
9785	DHX38	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
9785	DHX38	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
9785	DHX38	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
9785	DHX38	HP:0000575	Scotoma	5/18	OMIM:180100
9785	DHX38	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
9785	DHX38	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
9785	DHX38	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
9785	DHX38	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
9785	DHX38	HP:0000543	Optic disc pallor	1/1	OMIM:180100
9785	DHX38	HP:0000545	Myopia	-	OMIM:180100
9786	KIAA0586	HP:0001156	Brachydactyly	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0100954	Open operculum	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002436	Occipital meningocele	3/8	OMIM:616546
9786	KIAA0586	HP:0002435	Meningocele	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0009921	Duane anomaly	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002419	Molar tooth sign on MRI	HP:0040282	ORPHA:397715
9786	KIAA0586	HP:0002419	Molar tooth sign on MRI	5/5	OMIM:616546
9786	KIAA0586	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9786	KIAA0586	HP:0001293	Cranial nerve compression	-	OMIM:131300
9786	KIAA0586	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:397715
9786	KIAA0586	HP:0001290	Generalized hypotonia	-	OMIM:616546
9786	KIAA0586	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
9786	KIAA0586	HP:0001250	Seizure	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
9786	KIAA0586	HP:0001252	Hypotonia	2/7	OMIM:615777
9786	KIAA0586	HP:0001251	Ataxia	HP:0040281	ORPHA:475
9786	KIAA0586	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
9786	KIAA0586	HP:0001249	Intellectual disability	5/7	OMIM:615777
9786	KIAA0586	HP:0001265	Hyporeflexia	-	OMIM:616546
9786	KIAA0586	HP:0001263	Global developmental delay	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0001263	Global developmental delay	5/5	OMIM:616490
9786	KIAA0586	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
9786	KIAA0586	HP:0001263	Global developmental delay	-	OMIM:615777
9786	KIAA0586	HP:0002558	Supernumerary nipple	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0002515	Waddling gait	54/102	OMIM:131300
9786	KIAA0586	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0000054	Micropenis	1/3	OMIM:616546
9786	KIAA0586	HP:0001382	Joint hypermobility	-	OMIM:615777
9786	KIAA0586	HP:0000047	Hypospadias	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9786	KIAA0586	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9786	KIAA0586	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
9786	KIAA0586	HP:0008797	Early ossification of capital femoral epiphyses	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0001331	Absent septum pellucidum	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9786	KIAA0586	HP:0001324	Muscle weakness	40/96	OMIM:131300
9786	KIAA0586	HP:0001344	Absent speech	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9786	KIAA0586	HP:0000007	Autosomal recessive inheritance	-	OMIM:616546
9786	KIAA0586	HP:0000007	Autosomal recessive inheritance	-	OMIM:616490
9786	KIAA0586	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9786	KIAA0586	HP:0001337	Tremor	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9786	KIAA0586	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
9786	KIAA0586	HP:0001320	Cerebellar vermis hypoplasia	4/8	OMIM:616546
9786	KIAA0586	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0002650	Scoliosis	12/14	OMIM:131300
9786	KIAA0586	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:397715
9786	KIAA0586	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9786	KIAA0586	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9786	KIAA0586	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9786	KIAA0586	HP:0032466	Aplasia of the olfactory bulb	1/8	OMIM:616546
9786	KIAA0586	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9786	KIAA0586	HP:0000191	Accessory oral frenulum	2/8	OMIM:616546
9786	KIAA0586	HP:0000175	Cleft palate	2/7	OMIM:615777
9786	KIAA0586	HP:0000175	Cleft palate	-	OMIM:616546
9786	KIAA0586	HP:0012106	Rhizomelic leg shortening	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0000113	Polycystic kidney dysplasia	0/6	OMIM:616546
9786	KIAA0586	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
9786	KIAA0586	HP:0002789	Tachypnea	HP:0040282	ORPHA:397715
9786	KIAA0586	HP:0002789	Tachypnea	5/8	OMIM:616490
9786	KIAA0586	HP:0000110	Renal dysplasia	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0005989	Redundant neck skin	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002007	Frontal bossing	HP:0040282	ORPHA:397715
9786	KIAA0586	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0004629	Small cervical vertebral bodies	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0011802	Hamartoma of tongue	1/8	OMIM:616546
9786	KIAA0586	HP:0002089	Pulmonary hypoplasia	-	OMIM:616546
9786	KIAA0586	HP:0002085	Occipital encephalocele	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0002079	Hypoplasia of the corpus callosum	3/8	OMIM:616546
9786	KIAA0586	HP:0003388	Easy fatigability	36/76	OMIM:131300
9786	KIAA0586	HP:0010442	Polydactyly	1/8	OMIM:616490
9786	KIAA0586	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9786	KIAA0586	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:397715
9786	KIAA0586	HP:0002119	Ventriculomegaly	1/8	OMIM:616546
9786	KIAA0586	HP:0002134	Abnormal basal ganglia morphology	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0002126	Polymicrogyria	3/8	OMIM:616546
9786	KIAA0586	HP:0002100	Recurrent aspiration pneumonia	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002104	Apnea	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002104	Apnea	HP:0040281	ORPHA:475
9786	KIAA0586	HP:0002104	Apnea	4/8	OMIM:616490
9786	KIAA0586	HP:0003411	Proximal femoral metaphyseal irregularity	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0011933	Elongated superior cerebellar peduncle	HP:0040282	ORPHA:397715
9786	KIAA0586	HP:0011927	Short digit	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002195	Dysgenesis of the cerebellar vermis	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0004719	Hyperechogenic kidneys	HP:0040282	ORPHA:397715
9786	KIAA0586	HP:0010579	Cone-shaped epiphysis	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0003577	Congenital onset	8/8	OMIM:616546
9786	KIAA0586	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002280	Enlarged cisterna magna	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002280	Enlarged cisterna magna	1/8	OMIM:616546
9786	KIAA0586	HP:0007033	Cerebellar dysplasia	1/9	OMIM:616490
9786	KIAA0586	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0003510	Severe short stature	7/7	OMIM:615777
9786	KIAA0586	HP:0007082	Dilated third ventricle	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002365	Hypoplasia of the brainstem	2/8	OMIM:616546
9786	KIAA0586	HP:0002323	Anencephaly	1/8	OMIM:616546
9786	KIAA0586	HP:0002315	Headache	-	OMIM:131300
9786	KIAA0586	HP:0004976	Knee dislocation	6/7	OMIM:615777
9786	KIAA0586	HP:0004991	Rhizomelic arm shortening	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0009803	Short phalanx of finger	-	OMIM:615777
9786	KIAA0586	HP:0008445	Cervical spinal canal stenosis	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0009763	Limb pain	63/92	OMIM:131300
9786	KIAA0586	HP:0003621	Juvenile onset	-	OMIM:131300
9786	KIAA0586	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9786	KIAA0586	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9786	KIAA0586	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
9786	KIAA0586	HP:6001056	Out-toeing	-	OMIM:131300
9786	KIAA0586	HP:0000651	Diplopia	-	OMIM:131300
9786	KIAA0586	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0001956	Truncal obesity	2/7	OMIM:615777
9786	KIAA0586	HP:0001903	Anemia	HP:0040283	OMIM:131300
9786	KIAA0586	HP:0010049	Short metacarpal	-	OMIM:615777
9786	KIAA0586	HP:0010013	Abnormal 5th metacarpal morphology	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0000678	Dental crowding	-	OMIM:615777
9786	KIAA0586	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:397715
9786	KIAA0586	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
9786	KIAA0586	HP:0000670	Carious teeth	-	OMIM:131300
9786	KIAA0586	HP:0011304	Broad thumb	2/7	OMIM:615777
9786	KIAA0586	HP:0000668	Hypodontia	-	OMIM:615777
9786	KIAA0586	HP:0000664	Synophrys	-	OMIM:615777
9786	KIAA0586	HP:0006989	Dysplastic corpus callosum	1/9	OMIM:616490
9786	KIAA0586	HP:0004322	Short stature	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0000803	Renal cortical cysts	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0004396	Poor appetite	-	OMIM:131300
9786	KIAA0586	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9786	KIAA0586	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9786	KIAA0586	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9786	KIAA0586	HP:0003026	Short long bone	7/7	OMIM:615777
9786	KIAA0586	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9786	KIAA0586	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9786	KIAA0586	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9786	KIAA0586	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9786	KIAA0586	HP:0000750	Delayed speech and language development	-	OMIM:615777
9786	KIAA0586	HP:0012795	Abnormal optic disc morphology	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0011461	Fetal onset	7/7	OMIM:615777
9786	KIAA0586	HP:0000774	Narrow chest	2/7	OMIM:615777
9786	KIAA0586	HP:0000774	Narrow chest	-	OMIM:616546
9786	KIAA0586	HP:0000773	Short ribs	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0000773	Short ribs	4/8	OMIM:616546
9786	KIAA0586	HP:0000776	Congenital diaphragmatic hernia	1/8	OMIM:616546
9786	KIAA0586	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
9786	KIAA0586	HP:0000926	Platyspondyly	1/7	OMIM:615777
9786	KIAA0586	HP:0003170	Abnormal acetabulum morphology	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0003180	Flat acetabular roof	-	OMIM:615777
9786	KIAA0586	HP:0004482	Relative macrocephaly	-	OMIM:615777
9786	KIAA0586	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9786	KIAA0586	HP:0000890	Long clavicles	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0000823	Delayed puberty	-	OMIM:131300
9786	KIAA0586	HP:0000894	Short clavicles	-	OMIM:615777
9786	KIAA0586	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9786	KIAA0586	HP:0100259	Postaxial polydactyly	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0100259	Postaxial polydactyly	-	OMIM:616546
9786	KIAA0586	HP:0100258	Preaxial polydactyly	-	OMIM:616546
9786	KIAA0586	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9786	KIAA0586	HP:0000286	Epicanthus	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0000286	Epicanthus	1/7	OMIM:615777
9786	KIAA0586	HP:0000280	Coarse facial features	2/7	OMIM:615777
9786	KIAA0586	HP:0001591	Bell-shaped thorax	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0000276	Long face	HP:0040282	ORPHA:475
9786	KIAA0586	HP:0002827	Hip dislocation	3/7	OMIM:615777
9786	KIAA0586	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0000238	Hydrocephalus	2/8	OMIM:616546
9786	KIAA0586	HP:0000252	Microcephaly	-	OMIM:615777
9786	KIAA0586	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
9786	KIAA0586	HP:0001561	Polyhydramnios	-	OMIM:616546
9786	KIAA0586	HP:0002857	Genu valgum	-	OMIM:131300
9786	KIAA0586	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0001533	Slender build	-	OMIM:131300
9786	KIAA0586	HP:0001508	Failure to thrive	HP:0040282	ORPHA:397715
9786	KIAA0586	HP:0030048	Colpocephaly	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9786	KIAA0586	HP:0007807	Optic nerve compression	-	OMIM:131300
9786	KIAA0586	HP:0031528	Subretinal deposits	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0012368	Flat face	7/7	OMIM:615777
9786	KIAA0586	HP:0000396	Overfolded helix	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0005257	Thoracic hypoplasia	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0006528	Chronic lung disease	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9786	KIAA0586	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0000365	Hearing impairment	10/67	OMIM:131300
9786	KIAA0586	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0000369	Low-set ears	1/8	OMIM:616546
9786	KIAA0586	HP:0000369	Low-set ears	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0000343	Long philtrum	1/7	OMIM:615777
9786	KIAA0586	HP:0011001	Increased bone mineral density	-	OMIM:131300
9786	KIAA0586	HP:0000347	Micrognathia	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0002983	Micromelia	3/8	OMIM:616546
9786	KIAA0586	HP:0000316	Hypertelorism	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0000311	Round face	2/7	OMIM:615777
9786	KIAA0586	HP:0002970	Genu varum	-	OMIM:615777
9786	KIAA0586	HP:0001631	Atrial septal defect	-	OMIM:616546
9786	KIAA0586	HP:0000303	Mandibular prognathia	-	OMIM:131300
9786	KIAA0586	HP:0006610	Wide intermamillary distance	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0006660	Aplastic clavicle	1/8	OMIM:616546
9786	KIAA0586	HP:0006668	Twelfth rib hypoplasia	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0000407	Sensorineural hearing impairment	1/9	OMIM:616490
9786	KIAA0586	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9786	KIAA0586	HP:0005280	Depressed nasal bridge	1/8	OMIM:616546
9786	KIAA0586	HP:0000486	Strabismus	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0000480	Retinal coloboma	2/8	OMIM:616546
9786	KIAA0586	HP:0000496	Abnormality of eye movement	6/6	OMIM:616490
9786	KIAA0586	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0001789	Hydrops fetalis	1/8	OMIM:616546
9786	KIAA0586	HP:0000470	Short neck	1/7	OMIM:615777
9786	KIAA0586	HP:0000470	Short neck	1/8	OMIM:616546
9786	KIAA0586	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9786	KIAA0586	HP:0001763	Pes planus	1/7	OMIM:615777
9786	KIAA0586	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0001840	Metatarsus adductus	-	OMIM:615777
9786	KIAA0586	HP:0000520	Proptosis	2/4	OMIM:131300
9786	KIAA0586	HP:0000520	Proptosis	7/7	OMIM:615777
9786	KIAA0586	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0000508	Ptosis	HP:0040283	ORPHA:475
9786	KIAA0586	HP:0000592	Blue sclerae	2/7	OMIM:615777
9786	KIAA0586	HP:0000589	Coloboma	1/8	OMIM:616490
9786	KIAA0586	HP:0000556	Retinal dystrophy	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0000572	Visual loss	HP:0040283	ORPHA:397715
9786	KIAA0586	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9786	KIAA0586	HP:0012514	Lower limb pain	4/4	OMIM:131300
9786	KIAA0586	HP:0000545	Myopia	HP:0040283	ORPHA:397715
9790	BMS1	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:1114
9790	BMS1	HP:0007383	Congenital localized absence of skin	HP:0040281	ORPHA:1114
9790	BMS1	HP:0001362	Calvarial skull defect	HP:0040281	ORPHA:1114
9790	BMS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:107600
9790	BMS1	HP:0010628	Facial palsy	HP:0040283	ORPHA:1114
9790	BMS1	HP:0001057	Aplasia cutis congenita	HP:0040281	ORPHA:1114
9790	BMS1	HP:0200042	Skin ulcer	HP:0040282	ORPHA:1114
9790	BMS1	HP:0010783	Erythema	HP:0040283	ORPHA:1114
9790	BMS1	HP:0003010	Prolonged bleeding time	HP:0040283	ORPHA:1114
9790	BMS1	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:1114
9790	BMS1	HP:0004471	Aplasia cutis congenita over the scalp vertex	HP:0040281	ORPHA:1114
9790	BMS1	HP:0004471	Aplasia cutis congenita over the scalp vertex	-	OMIM:107600
9790	BMS1	HP:5200061	Tactile hypersensitivity	HP:0040283	ORPHA:1114
9790	BMS1	HP:0010301	Spinal dysraphism	HP:0040281	ORPHA:1114
9790	BMS1	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:1114
9791	PTDSS1	HP:0001187	Hyperextensibility of the finger joints	-	OMIM:151050
9791	PTDSS1	HP:0001156	Brachydactyly	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0001167	Abnormal finger morphology	HP:0040282	ORPHA:2658
9791	PTDSS1	HP:0001159	Syndactyly	-	OMIM:151050
9791	PTDSS1	HP:0003745	Sporadic	-	OMIM:151050
9791	PTDSS1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9791	PTDSS1	HP:0001293	Cranial nerve compression	-	OMIM:131300
9791	PTDSS1	HP:0001290	Generalized hypotonia	-	OMIM:151050
9791	PTDSS1	HP:0001274	Agenesis of corpus callosum	-	OMIM:151050
9791	PTDSS1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:2658
9791	PTDSS1	HP:0001252	Hypotonia	-	OMIM:151050
9791	PTDSS1	HP:0001252	Hypotonia	2/7	OMIM:615777
9791	PTDSS1	HP:0001252	Hypotonia	HP:0040283	ORPHA:2658
9791	PTDSS1	HP:0001249	Intellectual disability	5/5	OMIM:151050
9791	PTDSS1	HP:0001249	Intellectual disability	5/7	OMIM:615777
9791	PTDSS1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0001263	Global developmental delay	-	OMIM:615777
9791	PTDSS1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0002515	Waddling gait	54/102	OMIM:131300
9791	PTDSS1	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:2658
9791	PTDSS1	HP:0000041	Chordee	-	OMIM:151050
9791	PTDSS1	HP:0000036	Abnormal penis morphology	HP:0040282	ORPHA:2658
9791	PTDSS1	HP:0000039	Epispadias	HP:0040282	ORPHA:2658
9791	PTDSS1	HP:0001382	Joint hypermobility	5/5	OMIM:151050
9791	PTDSS1	HP:0001382	Joint hypermobility	-	OMIM:615777
9791	PTDSS1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0000047	Hypospadias	-	OMIM:151050
9791	PTDSS1	HP:0000047	Hypospadias	HP:0040282	ORPHA:2658
9791	PTDSS1	HP:0000023	Inguinal hernia	2/5	OMIM:151050
9791	PTDSS1	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:2658
9791	PTDSS1	HP:0002684	Thickened calvaria	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9791	PTDSS1	HP:0000028	Cryptorchidism	2/2	OMIM:151050
9791	PTDSS1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:2658
9791	PTDSS1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9791	PTDSS1	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0006152	Proximal symphalangism of hands	5/5	OMIM:151050
9791	PTDSS1	HP:0001331	Absent septum pellucidum	HP:0040283	ORPHA:2658
9791	PTDSS1	HP:0001328	Specific learning disability	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9791	PTDSS1	HP:0001324	Muscle weakness	40/96	OMIM:131300
9791	PTDSS1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9791	PTDSS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9791	PTDSS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9791	PTDSS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:151050
9791	PTDSS1	HP:0002650	Scoliosis	12/14	OMIM:131300
9791	PTDSS1	HP:0002650	Scoliosis	HP:0040283	ORPHA:2658
9791	PTDSS1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9791	PTDSS1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9791	PTDSS1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9791	PTDSS1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9791	PTDSS1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:2658
9791	PTDSS1	HP:0000164	Abnormality of the dentition	-	OMIM:151050
9791	PTDSS1	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:2658
9791	PTDSS1	HP:0000175	Cleft palate	1/5	OMIM:151050
9791	PTDSS1	HP:0000175	Cleft palate	2/7	OMIM:615777
9791	PTDSS1	HP:0000175	Cleft palate	HP:0040283	ORPHA:2658
9791	PTDSS1	HP:0000171	Microglossia	-	OMIM:151050
9791	PTDSS1	HP:0000135	Hypogonadism	HP:0040283	ORPHA:2658
9791	PTDSS1	HP:0000154	Wide mouth	HP:0040282	ORPHA:2658
9791	PTDSS1	HP:0007678	Lacrimal duct stenosis	3/5	OMIM:151050
9791	PTDSS1	HP:0005019	Diaphyseal undertubulation	4/5	OMIM:151050
9791	PTDSS1	HP:0002705	High, narrow palate	HP:0040283	ORPHA:2658
9791	PTDSS1	HP:0006297	Enamel hypoplasia	4/4	OMIM:151050
9791	PTDSS1	HP:0002750	Delayed skeletal maturation	4/4	OMIM:151050
9791	PTDSS1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0002007	Frontal bossing	-	OMIM:151050
9791	PTDSS1	HP:0100541	Femoral hernia	HP:0040282	ORPHA:2658
9791	PTDSS1	HP:0003388	Easy fatigability	36/76	OMIM:131300
9791	PTDSS1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9791	PTDSS1	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:2658
9791	PTDSS1	HP:0002120	Cerebral cortical atrophy	2/3	OMIM:151050
9791	PTDSS1	HP:0002119	Ventriculomegaly	2/3	OMIM:151050
9791	PTDSS1	HP:0010554	Cutaneous finger syndactyly	5/5	OMIM:151050
9791	PTDSS1	HP:0010628	Facial palsy	HP:0040282	ORPHA:2658
9791	PTDSS1	HP:0010627	Anterior pituitary hypoplasia	2/3	OMIM:151050
9791	PTDSS1	HP:0003510	Severe short stature	7/7	OMIM:615777
9791	PTDSS1	HP:0003510	Severe short stature	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0001043	Prominent scalp veins	-	OMIM:151050
9791	PTDSS1	HP:0002342	Intellectual disability, moderate	-	OMIM:151050
9791	PTDSS1	HP:0002315	Headache	-	OMIM:131300
9791	PTDSS1	HP:0004976	Knee dislocation	6/7	OMIM:615777
9791	PTDSS1	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	-	OMIM:151050
9791	PTDSS1	HP:0009803	Short phalanx of finger	-	OMIM:615777
9791	PTDSS1	HP:0009773	Symphalangism affecting the phalanges of the hand	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0009763	Limb pain	63/92	OMIM:131300
9791	PTDSS1	HP:0003621	Juvenile onset	-	OMIM:131300
9791	PTDSS1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9791	PTDSS1	HP:0004279	Short palm	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9791	PTDSS1	HP:6001056	Out-toeing	-	OMIM:131300
9791	PTDSS1	HP:0000651	Diplopia	-	OMIM:131300
9791	PTDSS1	HP:0000614	Abnormal nasolacrimal system morphology	HP:0040282	ORPHA:2658
9791	PTDSS1	HP:0001956	Truncal obesity	2/7	OMIM:615777
9791	PTDSS1	HP:0001903	Anemia	HP:0040283	OMIM:131300
9791	PTDSS1	HP:0010049	Short metacarpal	-	OMIM:615777
9791	PTDSS1	HP:0000682	Abnormal dental enamel morphology	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0000678	Dental crowding	-	OMIM:615777
9791	PTDSS1	HP:0000670	Carious teeth	-	OMIM:131300
9791	PTDSS1	HP:0011304	Broad thumb	2/7	OMIM:615777
9791	PTDSS1	HP:0000668	Hypodontia	-	OMIM:615777
9791	PTDSS1	HP:0000664	Synophrys	-	OMIM:615777
9791	PTDSS1	HP:0006989	Dysplastic corpus callosum	1/5	OMIM:151050
9791	PTDSS1	HP:0004322	Short stature	-	OMIM:151050
9791	PTDSS1	HP:0003070	Elbow ankylosis	HP:0040282	ORPHA:2658
9791	PTDSS1	HP:0004396	Poor appetite	-	OMIM:131300
9791	PTDSS1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9791	PTDSS1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9791	PTDSS1	HP:0003041	Humeroradial synostosis	1/5	OMIM:151050
9791	PTDSS1	HP:0003015	Flared metaphysis	-	OMIM:151050
9791	PTDSS1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9791	PTDSS1	HP:0003026	Short long bone	7/7	OMIM:615777
9791	PTDSS1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9791	PTDSS1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9791	PTDSS1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9791	PTDSS1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9791	PTDSS1	HP:0000750	Delayed speech and language development	-	OMIM:615777
9791	PTDSS1	HP:0011461	Fetal onset	7/7	OMIM:615777
9791	PTDSS1	HP:0000774	Narrow chest	2/7	OMIM:615777
9791	PTDSS1	HP:0004437	Cranial hyperostosis	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0003103	Abnormal cortical bone morphology	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0000916	Broad clavicles	5/5	OMIM:151050
9791	PTDSS1	HP:0000926	Platyspondyly	1/7	OMIM:615777
9791	PTDSS1	HP:0003180	Flat acetabular roof	-	OMIM:615777
9791	PTDSS1	HP:0004482	Relative macrocephaly	-	OMIM:151050
9791	PTDSS1	HP:0004482	Relative macrocephaly	-	OMIM:615777
9791	PTDSS1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9791	PTDSS1	HP:0000885	Broad ribs	15/15	OMIM:151050
9791	PTDSS1	HP:0000823	Delayed puberty	-	OMIM:131300
9791	PTDSS1	HP:0000894	Short clavicles	-	OMIM:615777
9791	PTDSS1	HP:0003241	External genital hypoplasia	HP:0040283	ORPHA:2658
9791	PTDSS1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9791	PTDSS1	HP:0003298	Spina bifida occulta	1/5	OMIM:151050
9791	PTDSS1	HP:0000973	Cutis laxa	5/5	OMIM:151050
9791	PTDSS1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9791	PTDSS1	HP:0000965	Cutis marmorata	-	OMIM:151050
9791	PTDSS1	HP:0000963	Thin skin	-	OMIM:151050
9791	PTDSS1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0008070	Sparse hair	4/4	OMIM:151050
9791	PTDSS1	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0000286	Epicanthus	1/7	OMIM:615777
9791	PTDSS1	HP:0000280	Coarse facial features	2/7	OMIM:615777
9791	PTDSS1	HP:0000256	Macrocephaly	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0000270	Delayed cranial suture closure	4/4	OMIM:151050
9791	PTDSS1	HP:0000270	Delayed cranial suture closure	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0002827	Hip dislocation	3/7	OMIM:615777
9791	PTDSS1	HP:0002808	Kyphosis	HP:0040283	ORPHA:2658
9791	PTDSS1	HP:0006380	Knee flexion contracture	-	OMIM:151050
9791	PTDSS1	HP:0000239	Large fontanelles	-	OMIM:151050
9791	PTDSS1	HP:0000239	Large fontanelles	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2658
9791	PTDSS1	HP:0000252	Microcephaly	3/5	OMIM:151050
9791	PTDSS1	HP:0000252	Microcephaly	-	OMIM:615777
9791	PTDSS1	HP:0001582	Redundant skin	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0001545	Anteriorly placed anus	-	OMIM:151050
9791	PTDSS1	HP:0002857	Genu valgum	-	OMIM:131300
9791	PTDSS1	HP:0001533	Slender build	-	OMIM:131300
9791	PTDSS1	HP:0001508	Failure to thrive	-	OMIM:151050
9791	PTDSS1	HP:0001511	Intrauterine growth retardation	-	OMIM:151050
9791	PTDSS1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9791	PTDSS1	HP:0007807	Optic nerve compression	-	OMIM:131300
9791	PTDSS1	HP:0012368	Flat face	7/7	OMIM:615777
9791	PTDSS1	HP:0002937	Hemivertebrae	1/5	OMIM:151050
9791	PTDSS1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9791	PTDSS1	HP:0000365	Hearing impairment	10/67	OMIM:131300
9791	PTDSS1	HP:0000343	Long philtrum	1/7	OMIM:615777
9791	PTDSS1	HP:0011002	Osteopetrosis	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0011001	Increased bone mineral density	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0011001	Increased bone mineral density	-	OMIM:131300
9791	PTDSS1	HP:0000337	Broad forehead	5/5	OMIM:151050
9791	PTDSS1	HP:0000337	Broad forehead	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0000347	Micrognathia	-	OMIM:151050
9791	PTDSS1	HP:0000316	Hypertelorism	5/5	OMIM:151050
9791	PTDSS1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0000311	Round face	2/7	OMIM:615777
9791	PTDSS1	HP:0002987	Elbow flexion contracture	-	OMIM:151050
9791	PTDSS1	HP:0002970	Genu varum	-	OMIM:615777
9791	PTDSS1	HP:0000303	Mandibular prognathia	-	OMIM:131300
9791	PTDSS1	HP:0000303	Mandibular prognathia	5/5	OMIM:151050
9791	PTDSS1	HP:0000303	Mandibular prognathia	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0006660	Aplastic clavicle	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0000407	Sensorineural hearing impairment	-	OMIM:151050
9791	PTDSS1	HP:0000400	Macrotia	15/15	OMIM:151050
9791	PTDSS1	HP:0000400	Macrotia	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9791	PTDSS1	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:2658
9791	PTDSS1	HP:0000470	Short neck	1/7	OMIM:615777
9791	PTDSS1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9791	PTDSS1	HP:0001763	Pes planus	1/7	OMIM:615777
9791	PTDSS1	HP:0000453	Choanal atresia	2/4	OMIM:151050
9791	PTDSS1	HP:0000453	Choanal atresia	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0000452	Choanal stenosis	-	OMIM:151050
9791	PTDSS1	HP:0005477	Progressive sclerosis of skull base	-	OMIM:151050
9791	PTDSS1	HP:0005465	Facial hyperostosis	HP:0040281	ORPHA:2658
9791	PTDSS1	HP:0001840	Metatarsus adductus	-	OMIM:615777
9791	PTDSS1	HP:0000520	Proptosis	2/4	OMIM:131300
9791	PTDSS1	HP:0000520	Proptosis	7/7	OMIM:615777
9791	PTDSS1	HP:0001804	Hypoplastic fingernail	HP:0040283	ORPHA:2658
9791	PTDSS1	HP:0001812	Hyperconvex fingernails	HP:0040283	ORPHA:2658
9791	PTDSS1	HP:0000592	Blue sclerae	2/7	OMIM:615777
9791	PTDSS1	HP:0011220	Prominent forehead	5/5	OMIM:151050
9791	PTDSS1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9791	PTDSS1	HP:0012514	Lower limb pain	4/4	OMIM:131300
9817	KEAP1	HP:0002671	Basal cell carcinoma	HP:0040282	ORPHA:276399
9817	KEAP1	HP:0005987	Multinodular goiter	HP:0040280	ORPHA:276399
9817	KEAP1	HP:0100528	Pleuropulmonary blastoma	HP:0040282	ORPHA:276399
9817	KEAP1	HP:0200063	Colorectal polyposis	HP:0040282	ORPHA:276399
9817	KEAP1	HP:0100615	Ovarian neoplasm	HP:0040282	ORPHA:276399
9817	KEAP1	HP:0100619	Sertoli cell neoplasm	HP:0040282	ORPHA:276399
9817	KEAP1	HP:0100617	Testicular seminoma	HP:0040282	ORPHA:276399
9817	KEAP1	HP:0007129	Cerebellar medulloblastoma	HP:0040284	ORPHA:276399
9817	KEAP1	HP:0005584	Renal cell carcinoma	HP:0040282	ORPHA:276399
9817	KEAP1	HP:0000836	Hyperthyroidism	-	ORPHA:276399
9817	KEAP1	HP:0030071	Medulloepithelioma	HP:0040284	ORPHA:276399
9817	KEAP1	HP:0002890	Thyroid carcinoma	HP:0040284	ORPHA:276399
9817	KEAP1	HP:0030434	Pilomatrixoma	HP:0040284	ORPHA:276399
9817	KEAP1	HP:0006779	Alveolar rhabdomyosarcoma	HP:0040284	ORPHA:276399
9820	CUL7	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9820	CUL7	HP:0001293	Cranial nerve compression	-	OMIM:131300
9820	CUL7	HP:0001252	Hypotonia	2/7	OMIM:615777
9820	CUL7	HP:0001249	Intellectual disability	0/3	OMIM:273750
9820	CUL7	HP:0001249	Intellectual disability	5/7	OMIM:615777
9820	CUL7	HP:0001263	Global developmental delay	-	OMIM:615777
9820	CUL7	HP:0008734	Decreased testicular size	-	OMIM:273750
9820	CUL7	HP:0002515	Waddling gait	54/102	OMIM:131300
9820	CUL7	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:2616
9820	CUL7	HP:0001373	Joint dislocation	-	OMIM:273750
9820	CUL7	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:2616
9820	CUL7	HP:0001382	Joint hypermobility	-	OMIM:273750
9820	CUL7	HP:0001382	Joint hypermobility	-	OMIM:615777
9820	CUL7	HP:0000047	Hypospadias	HP:0040283	ORPHA:2616
9820	CUL7	HP:0000047	Hypospadias	-	OMIM:273750
9820	CUL7	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9820	CUL7	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9820	CUL7	HP:0008897	Postnatal growth retardation	-	OMIM:273750
9820	CUL7	HP:0008839	Hypoplastic pelvis	HP:0040281	ORPHA:2616
9820	CUL7	HP:0008839	Hypoplastic pelvis	-	OMIM:273750
9820	CUL7	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9820	CUL7	HP:0001324	Muscle weakness	40/96	OMIM:131300
9820	CUL7	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9820	CUL7	HP:0000007	Autosomal recessive inheritance	-	OMIM:273750
9820	CUL7	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9820	CUL7	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9820	CUL7	HP:0002650	Scoliosis	HP:0040283	ORPHA:2616
9820	CUL7	HP:0002650	Scoliosis	12/14	OMIM:131300
9820	CUL7	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9820	CUL7	HP:0002643	Neonatal respiratory distress	-	OMIM:273750
9820	CUL7	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9820	CUL7	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9820	CUL7	HP:0000179	Thick lower lip vermilion	-	OMIM:273750
9820	CUL7	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9820	CUL7	HP:0000175	Cleft palate	2/7	OMIM:615777
9820	CUL7	HP:0000144	Decreased fertility	HP:0040283	ORPHA:2616
9820	CUL7	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2616
9820	CUL7	HP:0002750	Delayed skeletal maturation	-	OMIM:273750
9820	CUL7	HP:0002007	Frontal bossing	HP:0040281	ORPHA:2616
9820	CUL7	HP:0002007	Frontal bossing	-	OMIM:273750
9820	CUL7	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:2616
9820	CUL7	HP:0003307	Hyperlordosis	1/3	OMIM:273750
9820	CUL7	HP:0011800	Midface retrusion	HP:0040281	ORPHA:2616
9820	CUL7	HP:0003388	Easy fatigability	36/76	OMIM:131300
9820	CUL7	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9820	CUL7	HP:0003510	Severe short stature	7/7	OMIM:615777
9820	CUL7	HP:0003691	Scapular winging	HP:0040281	ORPHA:2616
9820	CUL7	HP:0003691	Scapular winging	-	OMIM:273750
9820	CUL7	HP:0002315	Headache	-	OMIM:131300
9820	CUL7	HP:0004976	Knee dislocation	6/7	OMIM:615777
9820	CUL7	HP:0100659	Abnormal cerebral vascular morphology	HP:0040283	ORPHA:2616
9820	CUL7	HP:0009811	Abnormality of the elbow	HP:0040282	ORPHA:2616
9820	CUL7	HP:0100625	Enlarged thorax	HP:0040282	ORPHA:2616
9820	CUL7	HP:0009803	Short phalanx of finger	-	OMIM:615777
9820	CUL7	HP:0009763	Limb pain	63/92	OMIM:131300
9820	CUL7	HP:0003621	Juvenile onset	-	OMIM:131300
9820	CUL7	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9820	CUL7	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:2616
9820	CUL7	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:273750
9820	CUL7	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9820	CUL7	HP:6001056	Out-toeing	-	OMIM:131300
9820	CUL7	HP:0000651	Diplopia	-	OMIM:131300
9820	CUL7	HP:0001956	Truncal obesity	2/7	OMIM:615777
9820	CUL7	HP:0001903	Anemia	HP:0040283	OMIM:131300
9820	CUL7	HP:0010049	Short metacarpal	-	OMIM:615777
9820	CUL7	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:2616
9820	CUL7	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:2616
9820	CUL7	HP:0000678	Dental crowding	-	OMIM:615777
9820	CUL7	HP:0000670	Carious teeth	-	OMIM:131300
9820	CUL7	HP:0011304	Broad thumb	2/7	OMIM:615777
9820	CUL7	HP:0000668	Hypodontia	-	OMIM:615777
9820	CUL7	HP:0000664	Synophrys	-	OMIM:615777
9820	CUL7	HP:0004322	Short stature	-	OMIM:273750
9820	CUL7	HP:0004322	Short stature	HP:0040281	ORPHA:2616
9820	CUL7	HP:0004396	Poor appetite	-	OMIM:131300
9820	CUL7	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9820	CUL7	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9820	CUL7	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9820	CUL7	HP:0003026	Short long bone	7/7	OMIM:615777
9820	CUL7	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9820	CUL7	HP:0003022	Hypoplasia of the ulna	HP:0040282	ORPHA:2616
9820	CUL7	HP:0000767	Pectus excavatum	-	OMIM:273750
9820	CUL7	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9820	CUL7	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9820	CUL7	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9820	CUL7	HP:0000750	Delayed speech and language development	-	OMIM:615777
9820	CUL7	HP:0011461	Fetal onset	7/7	OMIM:615777
9820	CUL7	HP:0000774	Narrow chest	2/7	OMIM:615777
9820	CUL7	HP:0000773	Short ribs	-	OMIM:273750
9820	CUL7	HP:0003100	Slender long bone	HP:0040281	ORPHA:2616
9820	CUL7	HP:0003100	Slender long bone	-	OMIM:273750
9820	CUL7	HP:0000926	Platyspondyly	1/7	OMIM:615777
9820	CUL7	HP:0003175	Hypoplastic ischia	HP:0040281	ORPHA:2616
9820	CUL7	HP:0003173	Hypoplastic pubic bone	HP:0040281	ORPHA:2616
9820	CUL7	HP:0003180	Flat acetabular roof	-	OMIM:615777
9820	CUL7	HP:0004482	Relative macrocephaly	-	OMIM:615777
9820	CUL7	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9820	CUL7	HP:0000888	Horizontal ribs	HP:0040282	ORPHA:2616
9820	CUL7	HP:0000883	Thin ribs	HP:0040282	ORPHA:2616
9820	CUL7	HP:0000823	Delayed puberty	-	OMIM:131300
9820	CUL7	HP:0000894	Short clavicles	-	OMIM:615777
9820	CUL7	HP:0009237	Short 5th finger	-	OMIM:273750
9820	CUL7	HP:0004570	Increased vertebral height	HP:0040281	ORPHA:2616
9820	CUL7	HP:0004570	Increased vertebral height	-	OMIM:273750
9820	CUL7	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9820	CUL7	HP:0003298	Spina bifida occulta	-	OMIM:273750
9820	CUL7	HP:0010306	Short thorax	HP:0040282	ORPHA:2616
9820	CUL7	HP:0010306	Short thorax	-	OMIM:273750
9820	CUL7	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9820	CUL7	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2616
9820	CUL7	HP:0000286	Epicanthus	1/7	OMIM:615777
9820	CUL7	HP:0000280	Coarse facial features	2/7	OMIM:615777
9820	CUL7	HP:0000272	Malar flattening	-	OMIM:273750
9820	CUL7	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:2616
9820	CUL7	HP:0000268	Dolichocephaly	-	OMIM:273750
9820	CUL7	HP:0002827	Hip dislocation	3/7	OMIM:615777
9820	CUL7	HP:0002827	Hip dislocation	-	OMIM:273750
9820	CUL7	HP:0002808	Kyphosis	HP:0040283	ORPHA:2616
9820	CUL7	HP:0000252	Microcephaly	-	OMIM:615777
9820	CUL7	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:2616
9820	CUL7	HP:0002857	Genu valgum	-	OMIM:131300
9820	CUL7	HP:0001533	Slender build	-	OMIM:131300
9820	CUL7	HP:0001518	Small for gestational age	-	OMIM:273750
9820	CUL7	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2616
9820	CUL7	HP:0001511	Intrauterine growth retardation	4/4	OMIM:273750
9820	CUL7	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9820	CUL7	HP:0001510	Growth delay	4/4	OMIM:273750
9820	CUL7	HP:0007807	Optic nerve compression	-	OMIM:131300
9820	CUL7	HP:0012368	Flat face	7/7	OMIM:615777
9820	CUL7	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9820	CUL7	HP:0000365	Hearing impairment	10/67	OMIM:131300
9820	CUL7	HP:0000343	Long philtrum	HP:0040282	ORPHA:2616
9820	CUL7	HP:0000343	Long philtrum	1/3	OMIM:273750
9820	CUL7	HP:0000343	Long philtrum	1/7	OMIM:615777
9820	CUL7	HP:0011001	Increased bone mineral density	-	OMIM:131300
9820	CUL7	HP:0000337	Broad forehead	HP:0040281	ORPHA:2616
9820	CUL7	HP:0002983	Micromelia	HP:0040282	ORPHA:2616
9820	CUL7	HP:0000311	Round face	2/7	OMIM:615777
9820	CUL7	HP:0000325	Triangular face	HP:0040281	ORPHA:2616
9820	CUL7	HP:0000325	Triangular face	2/3	OMIM:273750
9820	CUL7	HP:0002970	Genu varum	-	OMIM:615777
9820	CUL7	HP:0000307	Pointed chin	HP:0040282	ORPHA:2616
9820	CUL7	HP:0000307	Pointed chin	1/3	OMIM:273750
9820	CUL7	HP:0000303	Mandibular prognathia	-	OMIM:131300
9820	CUL7	HP:0000303	Mandibular prognathia	-	OMIM:273750
9820	CUL7	HP:0005280	Depressed nasal bridge	-	OMIM:273750
9820	CUL7	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9820	CUL7	HP:0000463	Anteverted nares	HP:0040281	ORPHA:2616
9820	CUL7	HP:0000463	Anteverted nares	-	OMIM:273750
9820	CUL7	HP:0000470	Short neck	HP:0040281	ORPHA:2616
9820	CUL7	HP:0000470	Short neck	-	OMIM:273750
9820	CUL7	HP:0000470	Short neck	1/7	OMIM:615777
9820	CUL7	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9820	CUL7	HP:0001763	Pes planus	1/7	OMIM:615777
9820	CUL7	HP:0001763	Pes planus	-	OMIM:273750
9820	CUL7	HP:0000414	Bulbous nose	HP:0040281	ORPHA:2616
9820	CUL7	HP:0000411	Protruding ear	HP:0040282	ORPHA:2616
9820	CUL7	HP:0001840	Metatarsus adductus	-	OMIM:615777
9820	CUL7	HP:0000520	Proptosis	2/4	OMIM:131300
9820	CUL7	HP:0000520	Proptosis	7/7	OMIM:615777
9820	CUL7	HP:0001838	Rocker bottom foot	HP:0040281	ORPHA:2616
9820	CUL7	HP:0000592	Blue sclerae	2/7	OMIM:615777
9820	CUL7	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:2616
9820	CUL7	HP:0000574	Thick eyebrow	-	OMIM:273750
9820	CUL7	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9820	CUL7	HP:0012514	Lower limb pain	4/4	OMIM:131300
9821	RB1CC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
9821	RB1CC1	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
9821	RB1CC1	HP:0003002	Breast carcinoma	-	OMIM:114480
9829	DNAJC6	HP:0007311	Short stepped shuffling gait	HP:0040282	ORPHA:391411
9829	DNAJC6	HP:0007256	Abnormal pyramidal sign	HP:0040283	OMIM:615528
9829	DNAJC6	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:391411
9829	DNAJC6	HP:0002425	Anarthria	HP:0040283	ORPHA:391411
9829	DNAJC6	HP:0025269	Panic attack	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0001250	Seizure	HP:0040282	ORPHA:391411
9829	DNAJC6	HP:0001250	Seizure	HP:0040283	OMIM:615528
9829	DNAJC6	HP:0001249	Intellectual disability	HP:0040282	ORPHA:391411
9829	DNAJC6	HP:0001249	Intellectual disability	HP:0040283	OMIM:615528
9829	DNAJC6	HP:0002578	Gastroparesis	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:391411
9829	DNAJC6	HP:0001260	Dysarthria	2/2	OMIM:615528
9829	DNAJC6	HP:0001257	Spasticity	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0001257	Spasticity	-	OMIM:615528
9829	DNAJC6	HP:0002540	Inability to walk	HP:0040281	ORPHA:391411
9829	DNAJC6	HP:0002509	Limb hypertonia	2/2	OMIM:615528
9829	DNAJC6	HP:0002505	Loss of ambulation	2/2	OMIM:615528
9829	DNAJC6	HP:0025387	Pill-rolling tremor	2/2	OMIM:615528
9829	DNAJC6	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0001332	Dystonia	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0001332	Dystonia	HP:0040281	ORPHA:391411
9829	DNAJC6	HP:0001332	Dystonia	HP:0040283	OMIM:615528
9829	DNAJC6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615528
9829	DNAJC6	HP:0001337	Tremor	HP:0040282	ORPHA:2828
9829	DNAJC6	HP:0001336	Myoclonus	HP:0040283	ORPHA:391411
9829	DNAJC6	HP:0002650	Scoliosis	HP:0040282	ORPHA:391411
9829	DNAJC6	HP:0001300	Parkinsonism	-	OMIM:615528
9829	DNAJC6	HP:0008969	Leg muscle stiffness	HP:0040282	ORPHA:391411
9829	DNAJC6	HP:0002018	Nausea	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0002019	Constipation	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0040307	Male sexual dysfunction	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0002014	Diarrhea	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0030904	Glabellar reflex	2/2	OMIM:615528
9829	DNAJC6	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0100543	Cognitive impairment	-	OMIM:615528
9829	DNAJC6	HP:0002067	Bradykinesia	2/2	OMIM:615528
9829	DNAJC6	HP:0002067	Bradykinesia	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0002067	Bradykinesia	HP:0040281	ORPHA:391411
9829	DNAJC6	HP:0002066	Gait ataxia	HP:0040282	ORPHA:391411
9829	DNAJC6	HP:0003394	Muscle spasm	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0002063	Rigidity	1/2	OMIM:615528
9829	DNAJC6	HP:0002063	Rigidity	HP:0040281	ORPHA:2828
9829	DNAJC6	HP:0002063	Rigidity	HP:0040281	ORPHA:391411
9829	DNAJC6	HP:0002141	Gait imbalance	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0002172	Postural instability	2/2	OMIM:615528
9829	DNAJC6	HP:0002172	Postural instability	HP:0040282	ORPHA:2828
9829	DNAJC6	HP:0002172	Postural instability	HP:0040281	ORPHA:391411
9829	DNAJC6	HP:0100710	Impulsivity	HP:0040284	ORPHA:2828
9829	DNAJC6	HP:0100785	Insomnia	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0002362	Shuffling gait	HP:0040283	ORPHA:391411
9829	DNAJC6	HP:0002362	Shuffling gait	-	OMIM:615528
9829	DNAJC6	HP:0003677	Slowly progressive	-	OMIM:615528
9829	DNAJC6	HP:0003678	Rapidly progressive	-	OMIM:615528
9829	DNAJC6	HP:0002322	Resting tremor	HP:0040281	ORPHA:391411
9829	DNAJC6	HP:0100660	Dyskinesia	HP:0040282	ORPHA:2828
9829	DNAJC6	HP:0007164	Slowed slurred speech	HP:0040281	ORPHA:391411
9829	DNAJC6	HP:0002304	Akinesia	HP:0040282	ORPHA:391411
9829	DNAJC6	HP:0003621	Juvenile onset	2/2	OMIM:615528
9829	DNAJC6	HP:0000651	Diplopia	HP:0040284	ORPHA:2828
9829	DNAJC6	HP:0012638	Abnormal nervous system physiology	HP:0040282	ORPHA:391411
9829	DNAJC6	HP:0004305	Involuntary movements	HP:0040282	ORPHA:391411
9829	DNAJC6	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:391411
9829	DNAJC6	HP:0000738	Hallucinations	-	OMIM:615528
9829	DNAJC6	HP:0000738	Hallucinations	HP:0040282	ORPHA:2828
9829	DNAJC6	HP:0000739	Anxiety	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0000736	Short attention span	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0000741	Apathy	HP:0040282	ORPHA:2828
9829	DNAJC6	HP:0000716	Depression	HP:0040282	ORPHA:2828
9829	DNAJC6	HP:0000713	Agitation	HP:0040284	ORPHA:2828
9829	DNAJC6	HP:0000727	Frontal lobe dementia	HP:0040284	ORPHA:2828
9829	DNAJC6	HP:0000726	Dementia	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0004409	Hyposmia	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0030014	Female sexual dysfunction	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0012378	Fatigue	HP:0040282	ORPHA:391411
9829	DNAJC6	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0000338	Hypomimic face	HP:0040281	ORPHA:391411
9829	DNAJC6	HP:0000338	Hypomimic face	2/2	OMIM:615528
9829	DNAJC6	HP:0001621	Weak voice	HP:0040282	ORPHA:391411
9829	DNAJC6	HP:0012444	Brain atrophy	HP:0040282	ORPHA:391411
9829	DNAJC6	HP:0012452	Restless legs	HP:0040283	ORPHA:2828
9829	DNAJC6	HP:0001761	Pes cavus	HP:0040282	ORPHA:391411
9829	DNAJC6	HP:0000571	Hypometric saccades	1/2	OMIM:615528
9829	DNAJC6	HP:0000551	Color vision defect	HP:0040283	ORPHA:2828
9837	GINS1	HP:0008897	Postnatal growth retardation	4/5	OMIM:617827
9837	GINS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617827
9837	GINS1	HP:0002719	Recurrent infections	5/5	OMIM:617827
9837	GINS1	HP:0002716	Lymphadenopathy	4/5	OMIM:617827
9837	GINS1	HP:0002014	Diarrhea	2/5	OMIM:617827
9837	GINS1	HP:0001999	Abnormal facial shape	5/5	OMIM:617827
9837	GINS1	HP:0004322	Short stature	4/4	OMIM:617827
9837	GINS1	HP:0034197	Third trimester onset	5/5	OMIM:617827
9837	GINS1	HP:0040219	Absent natural killer cells	5/5	OMIM:617827
9837	GINS1	HP:0000958	Dry skin	1/5	OMIM:617827
9837	GINS1	HP:0000964	Eczematoid dermatitis	3/5	OMIM:617827
9837	GINS1	HP:0008064	Ichthyosis	1/5	OMIM:617827
9837	GINS1	HP:0000252	Microcephaly	2/5	OMIM:617827
9837	GINS1	HP:0001581	Recurrent skin infections	-	OMIM:617827
9837	GINS1	HP:0002863	Myelodysplasia	1/5	OMIM:617827
9837	GINS1	HP:0001511	Intrauterine growth retardation	5/5	OMIM:617827
9837	GINS1	HP:0001888	Decreased total lymphocyte count	5/5	OMIM:617827
9837	GINS1	HP:0001875	Decreased total neutrophil count	5/5	OMIM:617827
9839	ZEB2	HP:0001181	Adducted thumb	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0001181	Adducted thumb	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0001153	Septate vagina	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0001153	Septate vagina	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0001159	Syndactyly	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0001159	Syndactyly	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0025100	Abnormal hippocampus morphology	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0025100	Abnormal hippocampus morphology	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0025100	Abnormal hippocampus morphology	77.8%	OMIM:235730
9839	ZEB2	HP:0002465	Poor speech	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0002465	Poor speech	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0002474	Expressive language delay	HP:0040281	ORPHA:261537
9839	ZEB2	HP:0002474	Expressive language delay	HP:0040281	ORPHA:261552
9839	ZEB2	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0009918	Ectopia pupillae	-	OMIM:235730
9839	ZEB2	HP:0009918	Ectopia pupillae	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0009909	Uplifted earlobe	-	OMIM:235730
9839	ZEB2	HP:0009909	Uplifted earlobe	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0009909	Uplifted earlobe	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0007270	Atypical absence seizure	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0007270	Atypical absence seizure	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0010864	Intellectual disability, severe	22/22	OMIM:235730
9839	ZEB2	HP:0003763	Bruxism	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0003763	Bruxism	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0003764	Nevus	HP:0040281	ORPHA:626
9839	ZEB2	HP:0003720	Generalized muscle hypertrophy	-	OMIM:235730
9839	ZEB2	HP:0001290	Generalized hypotonia	79.1%	OMIM:235730
9839	ZEB2	HP:0001274	Agenesis of corpus callosum	5/22	OMIM:235730
9839	ZEB2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0001273	Abnormal corpus callosum morphology	79.6%	OMIM:235730
9839	ZEB2	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0001270	Motor delay	-	OMIM:235730
9839	ZEB2	HP:0001250	Seizure	HP:0040283	ORPHA:626
9839	ZEB2	HP:0001250	Seizure	343/446	OMIM:235730
9839	ZEB2	HP:0001250	Seizure	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0001250	Seizure	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0001252	Hypotonia	7/22	OMIM:235730
9839	ZEB2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:261552
9839	ZEB2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:261537
9839	ZEB2	HP:0001257	Spasticity	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0001257	Spasticity	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0002558	Supernumerary nipple	-	OMIM:235730
9839	ZEB2	HP:0002572	Episodic vomiting	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0002572	Episodic vomiting	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0002540	Inability to walk	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0002540	Inability to walk	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0002553	Highly arched eyebrow	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:626
9839	ZEB2	HP:0012056	Cutaneous melanoma	HP:0040283	ORPHA:626
9839	ZEB2	HP:0000077	Abnormality of the kidney	59/233	OMIM:235730
9839	ZEB2	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000078	Abnormality of the genital system	105/244	OMIM:235730
9839	ZEB2	HP:0000075	Renal duplication	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000075	Renal duplication	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000041	Chordee	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0000041	Chordee	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0000054	Micropenis	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0000054	Micropenis	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0000048	Bifid scrotum	3/63	OMIM:235730
9839	ZEB2	HP:0000048	Bifid scrotum	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0000048	Bifid scrotum	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0000047	Hypospadias	71/119	OMIM:235730
9839	ZEB2	HP:0000047	Hypospadias	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0000047	Hypospadias	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0000020	Urinary incontinence	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0000020	Urinary incontinence	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000034	Hydrocele testis	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0000034	Hydrocele testis	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0000028	Cryptorchidism	51/123	OMIM:235730
9839	ZEB2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:626
9839	ZEB2	HP:0012081	Enlarged cerebellum	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0012081	Enlarged cerebellum	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0410005	Cleft hard palate	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0410005	Cleft hard palate	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0001344	Absent speech	68/96	OMIM:235730
9839	ZEB2	HP:0001344	Absent speech	HP:0040281	ORPHA:261552
9839	ZEB2	HP:0001344	Absent speech	HP:0040281	ORPHA:261537
9839	ZEB2	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:235730
9839	ZEB2	HP:0001320	Cerebellar vermis hypoplasia	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0001320	Cerebellar vermis hypoplasia	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0002650	Scoliosis	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0002650	Scoliosis	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0001321	Cerebellar hypoplasia	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0001321	Cerebellar hypoplasia	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0002607	Bowel incontinence	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0002607	Bowel incontinence	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0000179	Thick lower lip vermilion	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0000179	Thick lower lip vermilion	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0000194	Open mouth	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0000194	Open mouth	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0000193	Bifid uvula	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0000193	Bifid uvula	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0001492	Axenfeld anomaly	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0001492	Axenfeld anomaly	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000176	Submucous cleft hard palate	-	OMIM:235730
9839	ZEB2	HP:0000175	Cleft palate	9/395	OMIM:235730
9839	ZEB2	HP:0000175	Cleft palate	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0000175	Cleft palate	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:626
9839	ZEB2	HP:0410031	Submucous cleft of soft and hard palate	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0410031	Submucous cleft of soft and hard palate	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0008947	Floppy infant	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0008947	Floppy infant	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0002777	Tracheal stenosis	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0002777	Tracheal stenosis	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0000125	Pelvic kidney	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000125	Pelvic kidney	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0002719	Recurrent infections	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0002719	Recurrent infections	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0002021	Pyloric stenosis	14/190	OMIM:235730
9839	ZEB2	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0002019	Constipation	109/383	OMIM:235730
9839	ZEB2	HP:0002019	Constipation	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0002019	Constipation	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0002015	Dysphagia	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0002015	Dysphagia	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0002013	Vomiting	-	OMIM:235730
9839	ZEB2	HP:0002007	Frontal bossing	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0040331	Focal hypointensity of cerebral white matter on MRI	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0040331	Focal hypointensity of cerebral white matter on MRI	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:235730
9839	ZEB2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0009487	Ulnar deviation of the hand	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0009487	Ulnar deviation of the hand	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0002119	Ventriculomegaly	-	OMIM:235730
9839	ZEB2	HP:0002136	Broad-based gait	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0002136	Broad-based gait	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0002126	Polymicrogyria	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0002126	Polymicrogyria	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:626
9839	ZEB2	HP:0011886	Hyphema	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0010511	Long toe	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0010511	Long toe	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0002251	Aganglionic megacolon	272/613	OMIM:235730
9839	ZEB2	HP:0002251	Aganglionic megacolon	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0002251	Aganglionic megacolon	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0009748	Large earlobe	-	OMIM:235730
9839	ZEB2	HP:0007048	Large basal ganglia	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0007048	Large basal ganglia	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0007048	Large basal ganglia	HP:0040284	OMIM:235730
9839	ZEB2	HP:0007010	Poor fine motor coordination	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0007010	Poor fine motor coordination	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0007099	Chiari type I malformation	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0007099	Chiari type I malformation	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0001058	Poor wound healing	HP:0040282	ORPHA:626
9839	ZEB2	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:626
9839	ZEB2	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0002335	Agenesis of cerebellar vermis	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0002335	Agenesis of cerebellar vermis	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0002353	EEG abnormality	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0002353	EEG abnormality	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0002315	Headache	HP:0040283	ORPHA:626
9839	ZEB2	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:626
9839	ZEB2	HP:0001089	Iris atrophy	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0007165	Periventricular heterotopia	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0007165	Periventricular heterotopia	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0009765	Low hanging columella	3/3	OMIM:235730
9839	ZEB2	HP:0009765	Low hanging columella	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0009765	Low hanging columella	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0004961	Pulmonary artery sling	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0004961	Pulmonary artery sling	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0004961	Pulmonary artery sling	14/433	OMIM:235730
9839	ZEB2	HP:0002307	Drooling	-	OMIM:235730
9839	ZEB2	HP:0004912	Hypophosphatemic rickets	HP:0040284	ORPHA:626
9839	ZEB2	HP:0005580	Duplication of renal pelvis	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000612	Iris coloboma	-	OMIM:235730
9839	ZEB2	HP:0000612	Iris coloboma	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000612	Iris coloboma	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000615	Abnormal pupil morphology	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0010055	Broad hallux	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0010055	Broad hallux	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000684	Delayed eruption of teeth	15/20	OMIM:235730
9839	ZEB2	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000678	Dental crowding	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000678	Dental crowding	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000692	Tooth malposition	20/20	OMIM:235730
9839	ZEB2	HP:0000692	Tooth malposition	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000692	Tooth malposition	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000687	Widely spaced teeth	-	OMIM:235730
9839	ZEB2	HP:0011317	Right unicoronal synostosis	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0011317	Right unicoronal synostosis	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:261552
9839	ZEB2	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:261537
9839	ZEB2	HP:0004322	Short stature	104/224	OMIM:235730
9839	ZEB2	HP:0004322	Short stature	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0004322	Short stature	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0006956	Lateral ventricle dilatation	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0006956	Lateral ventricle dilatation	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0005600	Congenital giant melanocytic nevus	HP:0040281	ORPHA:626
9839	ZEB2	HP:0004362	Abnormal enteric ganglion morphology	-	OMIM:235730
9839	ZEB2	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0000767	Pectus excavatum	-	OMIM:235730
9839	ZEB2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000768	Pectus carinatum	-	OMIM:235730
9839	ZEB2	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0000750	Delayed speech and language development	100%	OMIM:235730
9839	ZEB2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:626
9839	ZEB2	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0011451	Primary microcephaly	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0011451	Primary microcephaly	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:626
9839	ZEB2	HP:0004415	Pulmonary artery stenosis	-	OMIM:235730
9839	ZEB2	HP:0004414	Abnormality of the pulmonary artery	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0004414	Abnormality of the pulmonary artery	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0030791	Abnormal jaw morphology	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0040082	Happy demeanor	-	OMIM:235730
9839	ZEB2	HP:0040082	Happy demeanor	HP:0040281	ORPHA:261537
9839	ZEB2	HP:0040082	Happy demeanor	HP:0040281	ORPHA:261552
9839	ZEB2	HP:0003270	Abdominal distention	-	OMIM:235730
9839	ZEB2	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:626
9839	ZEB2	HP:0010314	Premature thelarche	HP:0040284	ORPHA:626
9839	ZEB2	HP:0000989	Pruritus	HP:0040283	ORPHA:626
9839	ZEB2	HP:0000958	Dry skin	HP:0040282	ORPHA:626
9839	ZEB2	HP:0000970	Anhidrosis	HP:0040282	ORPHA:626
9839	ZEB2	HP:0000932	Abnormal posterior cranial fossa morphology	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000932	Abnormal posterior cranial fossa morphology	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000286	Epicanthus	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:626
9839	ZEB2	HP:0000252	Microcephaly	379/480	OMIM:235730
9839	ZEB2	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0002857	Genu valgum	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0002857	Genu valgum	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0012385	Camptodactyly	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0012385	Camptodactyly	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0012372	Abnormal eye morphology	22/221	OMIM:235730
9839	ZEB2	HP:0000378	Cupped ear	-	OMIM:235730
9839	ZEB2	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000316	Hypertelorism	-	OMIM:235730
9839	ZEB2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0001643	Patent ductus arteriosus	-	OMIM:235730
9839	ZEB2	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0001642	Pulmonic stenosis	-	OMIM:235730
9839	ZEB2	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000322	Short philtrum	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0000322	Short philtrum	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0001629	Ventricular septal defect	-	OMIM:235730
9839	ZEB2	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0001627	Abnormal heart morphology	193/332	OMIM:235730
9839	ZEB2	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0001641	Abnormal pulmonary valve morphology	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0001641	Abnormal pulmonary valve morphology	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000307	Pointed chin	-	OMIM:235730
9839	ZEB2	HP:0000307	Pointed chin	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0000307	Pointed chin	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0001631	Atrial septal defect	-	OMIM:235730
9839	ZEB2	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0030303	Hypoplastic anterior commissure	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0000403	Recurrent otitis media	34.6%	OMIM:235730
9839	ZEB2	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0005274	Prominent nasal tip	-	OMIM:235730
9839	ZEB2	HP:0000483	Astigmatism	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000483	Astigmatism	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000486	Strabismus	56.8%	OMIM:235730
9839	ZEB2	HP:0000486	Strabismus	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000486	Strabismus	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000480	Retinal coloboma	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000480	Retinal coloboma	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000482	Microcornea	-	OMIM:235730
9839	ZEB2	HP:0000482	Microcornea	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000494	Downslanted palpebral fissures	-	OMIM:235730
9839	ZEB2	HP:0000490	Deeply set eye	-	OMIM:235730
9839	ZEB2	HP:0000490	Deeply set eye	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0000490	Deeply set eye	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0011120	Concave nasal ridge	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	40.7%	OMIM:235730
9839	ZEB2	HP:0012430	Cerebral white matter hypoplasia	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0012430	Cerebral white matter hypoplasia	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000437	Depressed nasal tip	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0000437	Depressed nasal tip	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0001763	Pes planus	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0001763	Pes planus	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0030264	Webbed penis	HP:0040284	ORPHA:261537
9839	ZEB2	HP:0030264	Webbed penis	HP:0040284	ORPHA:261552
9839	ZEB2	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0001746	Asplenia	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0001746	Asplenia	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000431	Wide nasal bridge	-	OMIM:235730
9839	ZEB2	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0005484	Secondary microcephaly	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0005484	Secondary microcephaly	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0000518	Cataract	-	OMIM:235730
9839	ZEB2	HP:0000518	Cataract	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000518	Cataract	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0001848	Calcaneovalgus deformity	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0001848	Calcaneovalgus deformity	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0001847	Long hallux	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0001847	Long hallux	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0001822	Hallux valgus	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0001822	Hallux valgus	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000506	Telecanthus	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0000506	Telecanthus	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0000508	Ptosis	-	OMIM:235730
9839	ZEB2	HP:0000508	Ptosis	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000508	Ptosis	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000505	Visual impairment	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0011229	Broad eyebrow	-	OMIM:235730
9839	ZEB2	HP:0011229	Broad eyebrow	HP:0040282	ORPHA:261537
9839	ZEB2	HP:0011229	Broad eyebrow	HP:0040282	ORPHA:261552
9839	ZEB2	HP:0000568	Microphthalmia	-	OMIM:235730
9839	ZEB2	HP:0000568	Microphthalmia	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000568	Microphthalmia	HP:0040283	ORPHA:261537
9839	ZEB2	HP:0000565	Esotropia	-	OMIM:235730
9839	ZEB2	HP:0000567	Chorioretinal coloboma	-	OMIM:235730
9839	ZEB2	HP:0000539	Abnormality of refraction	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000545	Myopia	HP:0040283	ORPHA:261552
9839	ZEB2	HP:0000545	Myopia	HP:0040283	ORPHA:261537
9841	ZBTB24	HP:0001270	Motor delay	4/5	OMIM:614069
9841	ZBTB24	HP:0001249	Intellectual disability	7/7	OMIM:614069
9841	ZBTB24	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2268
9841	ZBTB24	HP:0001263	Global developmental delay	-	OMIM:614069
9841	ZBTB24	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2268
9841	ZBTB24	HP:0010976	Decreased total B cell count	4/8	OMIM:614069
9841	ZBTB24	HP:0000007	Autosomal recessive inheritance	-	OMIM:614069
9841	ZBTB24	HP:0001334	Communicating hydrocephalus	HP:0040282	ORPHA:2268
9841	ZBTB24	HP:0000158	Macroglossia	HP:0040283	ORPHA:2268
9841	ZBTB24	HP:0002788	Recurrent upper respiratory tract infections	14/14	OMIM:614069
9841	ZBTB24	HP:0002719	Recurrent infections	-	OMIM:614069
9841	ZBTB24	HP:0002720	Decreased circulating IgA concentration	5/7	OMIM:614069
9841	ZBTB24	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:2268
9841	ZBTB24	HP:0002721	Immunodeficiency	-	OMIM:614069
9841	ZBTB24	HP:0002024	Malabsorption	HP:0040282	ORPHA:2268
9841	ZBTB24	HP:0002014	Diarrhea	2/7	OMIM:614069
9841	ZBTB24	HP:0002090	Pneumonia	-	OMIM:614069
9841	ZBTB24	HP:0003577	Congenital onset	-	OMIM:614069
9841	ZBTB24	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:2268
9841	ZBTB24	HP:0010808	Protruding tongue	HP:0040283	ORPHA:2268
9841	ZBTB24	HP:0020102	Pneumocystis jirovecii pneumonia	2/7	OMIM:614069
9841	ZBTB24	HP:0001903	Anemia	HP:0040282	ORPHA:2268
9841	ZBTB24	HP:0004322	Short stature	HP:0040281	ORPHA:2268
9841	ZBTB24	HP:0004315	Decreased circulating IgG concentration	7/7	OMIM:614069
9841	ZBTB24	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:2268
9841	ZBTB24	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:614069
9841	ZBTB24	HP:0003196	Short nose	-	OMIM:614069
9841	ZBTB24	HP:0004469	Chronic bronchitis	-	OMIM:614069
9841	ZBTB24	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:2268
9841	ZBTB24	HP:0000286	Epicanthus	-	OMIM:614069
9841	ZBTB24	HP:0000286	Epicanthus	HP:0040283	ORPHA:2268
9841	ZBTB24	HP:0000278	Retrognathia	-	OMIM:614069
9841	ZBTB24	HP:0000256	Macrocephaly	HP:0040282	ORPHA:2268
9841	ZBTB24	HP:0000218	High palate	-	OMIM:614069
9841	ZBTB24	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2268
9841	ZBTB24	HP:0002850	Decreased circulating total IgM	6/7	OMIM:614069
9841	ZBTB24	HP:0001510	Growth delay	-	OMIM:614069
9841	ZBTB24	HP:0012368	Flat face	HP:0040283	ORPHA:2268
9841	ZBTB24	HP:0000369	Low-set ears	-	OMIM:614069
9841	ZBTB24	HP:0000369	Low-set ears	HP:0040283	ORPHA:2268
9841	ZBTB24	HP:0000347	Micrognathia	HP:0040281	ORPHA:2268
9841	ZBTB24	HP:0000316	Hypertelorism	-	OMIM:614069
9841	ZBTB24	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2268
9841	ZBTB24	HP:0000311	Round face	-	OMIM:614069
9841	ZBTB24	HP:0000331	Short chin	-	OMIM:614069
9841	ZBTB24	HP:0005374	Cellular immunodeficiency	HP:0040282	ORPHA:2268
9841	ZBTB24	HP:0005280	Depressed nasal bridge	-	OMIM:614069
9841	ZBTB24	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:2268
9841	ZBTB24	HP:0000463	Anteverted nares	-	OMIM:614069
9841	ZBTB24	HP:0005401	Recurrent candida infections	2/7	OMIM:614069
9841	ZBTB24	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:2268
9841	ZBTB24	HP:0001874	Abnormality of neutrophils	HP:0040282	ORPHA:2268
9842	PLEKHM1	HP:0100959	Dense metaphyseal bands	-	OMIM:611497
9842	PLEKHM1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9842	PLEKHM1	HP:0001293	Cranial nerve compression	HP:0040284	ORPHA:210110
9842	PLEKHM1	HP:0001293	Cranial nerve compression	-	OMIM:131300
9842	PLEKHM1	HP:0001252	Hypotonia	2/7	OMIM:615777
9842	PLEKHM1	HP:0001249	Intellectual disability	5/7	OMIM:615777
9842	PLEKHM1	HP:0001263	Global developmental delay	-	OMIM:615777
9842	PLEKHM1	HP:0033701	Cortical sclerosis of the iliac wing	1/1	OMIM:611497
9842	PLEKHM1	HP:0031035	Chronic infection	HP:0040284	ORPHA:210110
9842	PLEKHM1	HP:0002515	Waddling gait	54/102	OMIM:131300
9842	PLEKHM1	HP:0001382	Joint hypermobility	-	OMIM:615777
9842	PLEKHM1	HP:0002684	Thickened calvaria	1/1	OMIM:618107
9842	PLEKHM1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9842	PLEKHM1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9842	PLEKHM1	HP:0002659	Increased susceptibility to fractures	HP:0040282	ORPHA:210110
9842	PLEKHM1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9842	PLEKHM1	HP:0001324	Muscle weakness	40/96	OMIM:131300
9842	PLEKHM1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9842	PLEKHM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:611497
9842	PLEKHM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9842	PLEKHM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618107
9842	PLEKHM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9842	PLEKHM1	HP:0002650	Scoliosis	12/14	OMIM:131300
9842	PLEKHM1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9842	PLEKHM1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9842	PLEKHM1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9842	PLEKHM1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9842	PLEKHM1	HP:0000164	Abnormality of the dentition	HP:0040284	ORPHA:210110
9842	PLEKHM1	HP:0000175	Cleft palate	2/7	OMIM:615777
9842	PLEKHM1	HP:0025406	Asthenia	1/1	OMIM:618107
9842	PLEKHM1	HP:0002757	Recurrent fractures	1/1	OMIM:618107
9842	PLEKHM1	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:210110
9842	PLEKHM1	HP:0002754	Osteomyelitis	HP:0040284	ORPHA:210110
9842	PLEKHM1	HP:0001433	Hepatosplenomegaly	HP:0040284	ORPHA:210110
9842	PLEKHM1	HP:0004618	Sandwich appearance of vertebral bodies	HP:0040282	ORPHA:210110
9842	PLEKHM1	HP:0003388	Easy fatigability	36/76	OMIM:131300
9842	PLEKHM1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9842	PLEKHM1	HP:0003418	Back pain	HP:0040282	ORPHA:210110
9842	PLEKHM1	HP:0002240	Hepatomegaly	1/1	OMIM:618107
9842	PLEKHM1	HP:0003510	Severe short stature	7/7	OMIM:615777
9842	PLEKHM1	HP:0002315	Headache	-	OMIM:131300
9842	PLEKHM1	HP:0004976	Knee dislocation	6/7	OMIM:615777
9842	PLEKHM1	HP:0004975	Erlenmeyer flask deformity of the femurs	-	OMIM:611497
9842	PLEKHM1	HP:0004975	Erlenmeyer flask deformity of the femurs	HP:0040282	ORPHA:210110
9842	PLEKHM1	HP:0009803	Short phalanx of finger	-	OMIM:615777
9842	PLEKHM1	HP:0009763	Limb pain	63/92	OMIM:131300
9842	PLEKHM1	HP:0003621	Juvenile onset	-	OMIM:131300
9842	PLEKHM1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9842	PLEKHM1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9842	PLEKHM1	HP:6001056	Out-toeing	-	OMIM:131300
9842	PLEKHM1	HP:0000651	Diplopia	-	OMIM:131300
9842	PLEKHM1	HP:0001956	Truncal obesity	2/7	OMIM:615777
9842	PLEKHM1	HP:0001903	Anemia	1/1	OMIM:618107
9842	PLEKHM1	HP:0001903	Anemia	HP:0040283	OMIM:131300
9842	PLEKHM1	HP:0001903	Anemia	HP:0040283	ORPHA:210110
9842	PLEKHM1	HP:0010049	Short metacarpal	-	OMIM:615777
9842	PLEKHM1	HP:0000678	Dental crowding	-	OMIM:615777
9842	PLEKHM1	HP:0000689	Dental malocclusion	HP:0040284	ORPHA:210110
9842	PLEKHM1	HP:0000670	Carious teeth	-	OMIM:131300
9842	PLEKHM1	HP:0011304	Broad thumb	2/7	OMIM:615777
9842	PLEKHM1	HP:0000668	Hypodontia	-	OMIM:615777
9842	PLEKHM1	HP:0000664	Synophrys	-	OMIM:615777
9842	PLEKHM1	HP:0005652	Cortical sclerosis	HP:0040282	ORPHA:210110
9842	PLEKHM1	HP:0004396	Poor appetite	-	OMIM:131300
9842	PLEKHM1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9842	PLEKHM1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9842	PLEKHM1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9842	PLEKHM1	HP:0003026	Short long bone	7/7	OMIM:615777
9842	PLEKHM1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9842	PLEKHM1	HP:0004348	Abnormality of bone mineral density	HP:0040281	ORPHA:210110
9842	PLEKHM1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9842	PLEKHM1	HP:0000768	Pectus carinatum	1/1	OMIM:618107
9842	PLEKHM1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9842	PLEKHM1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9842	PLEKHM1	HP:0000750	Delayed speech and language development	-	OMIM:615777
9842	PLEKHM1	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:210110
9842	PLEKHM1	HP:0011463	Childhood onset	1/1	OMIM:618107
9842	PLEKHM1	HP:0011461	Fetal onset	7/7	OMIM:615777
9842	PLEKHM1	HP:0000774	Narrow chest	2/7	OMIM:615777
9842	PLEKHM1	HP:0005746	Osteosclerosis of the base of the skull	HP:0040282	ORPHA:210110
9842	PLEKHM1	HP:0000926	Platyspondyly	1/7	OMIM:615777
9842	PLEKHM1	HP:0003180	Flat acetabular roof	-	OMIM:615777
9842	PLEKHM1	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040283	ORPHA:210110
9842	PLEKHM1	HP:0004482	Relative macrocephaly	-	OMIM:615777
9842	PLEKHM1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9842	PLEKHM1	HP:0005789	Generalized osteosclerosis	HP:0040282	ORPHA:210110
9842	PLEKHM1	HP:0000843	Hyperparathyroidism	1/1	OMIM:618107
9842	PLEKHM1	HP:0000823	Delayed puberty	-	OMIM:131300
9842	PLEKHM1	HP:0000894	Short clavicles	-	OMIM:615777
9842	PLEKHM1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9842	PLEKHM1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9842	PLEKHM1	HP:0000938	Osteopenia	1/1	OMIM:618107
9842	PLEKHM1	HP:0000286	Epicanthus	1/7	OMIM:615777
9842	PLEKHM1	HP:0000280	Coarse facial features	2/7	OMIM:615777
9842	PLEKHM1	HP:0002827	Hip dislocation	3/7	OMIM:615777
9842	PLEKHM1	HP:0000252	Microcephaly	-	OMIM:615777
9842	PLEKHM1	HP:0000230	Gingivitis	1/1	OMIM:618107
9842	PLEKHM1	HP:0002857	Genu valgum	-	OMIM:131300
9842	PLEKHM1	HP:0001533	Slender build	-	OMIM:131300
9842	PLEKHM1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9842	PLEKHM1	HP:0007807	Optic nerve compression	-	OMIM:131300
9842	PLEKHM1	HP:0012378	Fatigue	1/1	OMIM:618107
9842	PLEKHM1	HP:0012368	Flat face	7/7	OMIM:615777
9842	PLEKHM1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9842	PLEKHM1	HP:0002901	Hypocalcemia	-	ORPHA:210110
9842	PLEKHM1	HP:0006480	Premature loss of teeth	1/1	OMIM:618107
9842	PLEKHM1	HP:0006482	Abnormal dental morphology	HP:0040284	ORPHA:210110
9842	PLEKHM1	HP:0000365	Hearing impairment	10/67	OMIM:131300
9842	PLEKHM1	HP:0000343	Long philtrum	1/7	OMIM:615777
9842	PLEKHM1	HP:0011002	Osteopetrosis	2/2	OMIM:611497
9842	PLEKHM1	HP:0011001	Increased bone mineral density	-	OMIM:131300
9842	PLEKHM1	HP:0000311	Round face	2/7	OMIM:615777
9842	PLEKHM1	HP:0002970	Genu varum	-	OMIM:615777
9842	PLEKHM1	HP:0000303	Mandibular prognathia	-	OMIM:131300
9842	PLEKHM1	HP:0007958	Optic atrophy from cranial nerve compression	HP:0040284	ORPHA:210110
9842	PLEKHM1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9842	PLEKHM1	HP:0000470	Short neck	1/7	OMIM:615777
9842	PLEKHM1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9842	PLEKHM1	HP:0001763	Pes planus	1/7	OMIM:615777
9842	PLEKHM1	HP:0001744	Splenomegaly	1/1	OMIM:618107
9842	PLEKHM1	HP:0001840	Metatarsus adductus	-	OMIM:615777
9842	PLEKHM1	HP:0000520	Proptosis	2/4	OMIM:131300
9842	PLEKHM1	HP:0000520	Proptosis	7/7	OMIM:615777
9842	PLEKHM1	HP:0000505	Visual impairment	HP:0040284	ORPHA:210110
9842	PLEKHM1	HP:0000592	Blue sclerae	2/7	OMIM:615777
9842	PLEKHM1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9842	PLEKHM1	HP:0012514	Lower limb pain	4/4	OMIM:131300
9842	PLEKHM1	HP:0001873	Thrombocytopenia	-	ORPHA:210110
9851	KIAA0753	HP:0001156	Brachydactyly	HP:0040282	ORPHA:474
9851	KIAA0753	HP:0001156	Brachydactyly	4/4	OMIM:619479
9851	KIAA0753	HP:0001156	Brachydactyly	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:474
9851	KIAA0753	HP:0001162	Postaxial hand polydactyly	1/1	OMIM:617127
9851	KIAA0753	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2754
9851	KIAA0753	HP:0001159	Syndactyly	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0002444	Hypothalamic hamartoma	HP:0040283	ORPHA:2754
9851	KIAA0753	HP:0002419	Molar tooth sign on MRI	2/2	OMIM:619476
9851	KIAA0753	HP:0002419	Molar tooth sign on MRI	2/5	OMIM:619479
9851	KIAA0753	HP:0002419	Molar tooth sign on MRI	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0002419	Molar tooth sign on MRI	1/1	OMIM:617127
9851	KIAA0753	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9851	KIAA0753	HP:0001293	Cranial nerve compression	-	OMIM:131300
9851	KIAA0753	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0001274	Agenesis of corpus callosum	1/1	OMIM:617127
9851	KIAA0753	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
9851	KIAA0753	HP:0001288	Gait disturbance	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0001250	Seizure	HP:0040283	ORPHA:2754
9851	KIAA0753	HP:0001250	Seizure	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0001252	Hypotonia	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0001252	Hypotonia	1/2	OMIM:619476
9851	KIAA0753	HP:0001252	Hypotonia	1/1	OMIM:619479
9851	KIAA0753	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
9851	KIAA0753	HP:0001252	Hypotonia	2/7	OMIM:615777
9851	KIAA0753	HP:0001251	Ataxia	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0001251	Ataxia	HP:0040281	ORPHA:475
9851	KIAA0753	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
9851	KIAA0753	HP:0001249	Intellectual disability	5/7	OMIM:615777
9851	KIAA0753	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0001263	Global developmental delay	2/2	OMIM:619476
9851	KIAA0753	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
9851	KIAA0753	HP:0001263	Global developmental delay	-	OMIM:615777
9851	KIAA0753	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2754
9851	KIAA0753	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2754
9851	KIAA0753	HP:0003865	Bowed humerus	1/4	OMIM:619479
9851	KIAA0753	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:2754
9851	KIAA0753	HP:0002515	Waddling gait	54/102	OMIM:131300
9851	KIAA0753	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:474
9851	KIAA0753	HP:0000090	Nephronophthisis	HP:0040283	ORPHA:474
9851	KIAA0753	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:474
9851	KIAA0753	HP:0001371	Flexion contracture	2/3	OMIM:619479
9851	KIAA0753	HP:0000054	Micropenis	1/4	OMIM:619479
9851	KIAA0753	HP:0001382	Joint hypermobility	-	OMIM:615777
9851	KIAA0753	HP:0000047	Hypospadias	1/4	OMIM:619479
9851	KIAA0753	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9851	KIAA0753	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9851	KIAA0753	HP:0008873	Disproportionate short-limb short stature	5/5	OMIM:619479
9851	KIAA0753	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
9851	KIAA0753	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:474
9851	KIAA0753	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0006145	Central Y-shaped metacarpal	HP:0040283	ORPHA:2754
9851	KIAA0753	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9851	KIAA0753	HP:0001324	Muscle weakness	40/96	OMIM:131300
9851	KIAA0753	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9851	KIAA0753	HP:0000007	Autosomal recessive inheritance	-	OMIM:619476
9851	KIAA0753	HP:0000007	Autosomal recessive inheritance	-	OMIM:619479
9851	KIAA0753	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9851	KIAA0753	HP:0000007	Autosomal recessive inheritance	-	OMIM:617127
9851	KIAA0753	HP:0001337	Tremor	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0001337	Tremor	HP:0040283	ORPHA:2754
9851	KIAA0753	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9851	KIAA0753	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:474
9851	KIAA0753	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
9851	KIAA0753	HP:0001320	Cerebellar vermis hypoplasia	2/2	OMIM:619476
9851	KIAA0753	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:2754
9851	KIAA0753	HP:0001320	Cerebellar vermis hypoplasia	1/1	OMIM:617127
9851	KIAA0753	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0002650	Scoliosis	12/14	OMIM:131300
9851	KIAA0753	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9851	KIAA0753	HP:0002643	Neonatal respiratory distress	1/1	OMIM:619479
9851	KIAA0753	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:474
9851	KIAA0753	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9851	KIAA0753	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9851	KIAA0753	HP:0000180	Lobulated tongue	1/1	OMIM:617127
9851	KIAA0753	HP:0000180	Lobulated tongue	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0000199	Tongue nodules	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9851	KIAA0753	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0000175	Cleft palate	2/7	OMIM:615777
9851	KIAA0753	HP:0000175	Cleft palate	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
9851	KIAA0753	HP:0000126	Hydronephrosis	1/1	OMIM:617127
9851	KIAA0753	HP:0000112	Nephropathy	HP:0040283	ORPHA:474
9851	KIAA0753	HP:0000104	Renal agenesis	HP:0040283	ORPHA:2754
9851	KIAA0753	HP:0002714	Downturned corners of mouth	1/2	OMIM:619476
9851	KIAA0753	HP:0002007	Frontal bossing	1/2	OMIM:619476
9851	KIAA0753	HP:0002007	Frontal bossing	3/4	OMIM:619479
9851	KIAA0753	HP:0002007	Frontal bossing	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0011802	Hamartoma of tongue	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:474
9851	KIAA0753	HP:0002079	Hypoplasia of the corpus callosum	2/4	OMIM:619479
9851	KIAA0753	HP:0003388	Easy fatigability	36/76	OMIM:131300
9851	KIAA0753	HP:0011755	Ectopic posterior pituitary	2/2	OMIM:619476
9851	KIAA0753	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9851	KIAA0753	HP:0002119	Ventriculomegaly	1/1	OMIM:617127
9851	KIAA0753	HP:0002119	Ventriculomegaly	1/4	OMIM:619479
9851	KIAA0753	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0002104	Apnea	HP:0040281	ORPHA:475
9851	KIAA0753	HP:0002104	Apnea	HP:0040283	ORPHA:2754
9851	KIAA0753	HP:0002195	Dysgenesis of the cerebellar vermis	3/4	OMIM:619479
9851	KIAA0753	HP:0002194	Delayed gross motor development	3/3	OMIM:619479
9851	KIAA0753	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:474
9851	KIAA0753	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:2754
9851	KIAA0753	HP:0003577	Congenital onset	1/1	OMIM:617127
9851	KIAA0753	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0007036	Hypoplasia of olfactory tract	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0011968	Feeding difficulties	1/1	OMIM:619479
9851	KIAA0753	HP:0003510	Severe short stature	7/7	OMIM:615777
9851	KIAA0753	HP:0007068	Inferior cerebellar vermis hypoplasia	1/2	OMIM:619476
9851	KIAA0753	HP:0002315	Headache	-	OMIM:131300
9851	KIAA0753	HP:0004976	Knee dislocation	6/7	OMIM:615777
9851	KIAA0753	HP:0009803	Short phalanx of finger	-	OMIM:615777
9851	KIAA0753	HP:0033454	Tube feeding	1/1	OMIM:619479
9851	KIAA0753	HP:0009763	Limb pain	63/92	OMIM:131300
9851	KIAA0753	HP:0003621	Juvenile onset	-	OMIM:131300
9851	KIAA0753	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9851	KIAA0753	HP:0009084	Midline notch of upper alveolar ridge	1/1	OMIM:617127
9851	KIAA0753	HP:0009084	Midline notch of upper alveolar ridge	HP:0040283	ORPHA:2754
9851	KIAA0753	HP:0010066	Duplication of phalanx of hallux	1/1	OMIM:617127
9851	KIAA0753	HP:0034044	Trident pelvis	2/5	OMIM:619479
9851	KIAA0753	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9851	KIAA0753	HP:0000639	Nystagmus	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
9851	KIAA0753	HP:6001056	Out-toeing	-	OMIM:131300
9851	KIAA0753	HP:0000651	Diplopia	-	OMIM:131300
9851	KIAA0753	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0001956	Truncal obesity	2/7	OMIM:615777
9851	KIAA0753	HP:0001903	Anemia	HP:0040283	OMIM:131300
9851	KIAA0753	HP:0010049	Short metacarpal	-	OMIM:615777
9851	KIAA0753	HP:0010055	Broad hallux	1/1	OMIM:617127
9851	KIAA0753	HP:0000678	Dental crowding	-	OMIM:615777
9851	KIAA0753	HP:0000691	Microdontia	2/4	OMIM:619479
9851	KIAA0753	HP:0000687	Widely spaced teeth	1/1	OMIM:619479
9851	KIAA0753	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
9851	KIAA0753	HP:0000657	Oculomotor apraxia	2/2	OMIM:619476
9851	KIAA0753	HP:0000670	Carious teeth	-	OMIM:131300
9851	KIAA0753	HP:0011304	Broad thumb	2/7	OMIM:615777
9851	KIAA0753	HP:0000668	Hypodontia	-	OMIM:615777
9851	KIAA0753	HP:0000664	Synophrys	-	OMIM:615777
9851	KIAA0753	HP:0004322	Short stature	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0004322	Short stature	1/2	OMIM:619476
9851	KIAA0753	HP:0004322	Short stature	HP:0040283	ORPHA:474
9851	KIAA0753	HP:0006956	Lateral ventricle dilatation	2/4	OMIM:619479
9851	KIAA0753	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0004396	Poor appetite	-	OMIM:131300
9851	KIAA0753	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9851	KIAA0753	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9851	KIAA0753	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9851	KIAA0753	HP:0003026	Short long bone	7/7	OMIM:615777
9851	KIAA0753	HP:0003026	Short long bone	1/1	OMIM:619479
9851	KIAA0753	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9851	KIAA0753	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:474
9851	KIAA0753	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9851	KIAA0753	HP:0000766	Abnormal sternum morphology	HP:0040282	ORPHA:474
9851	KIAA0753	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9851	KIAA0753	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9851	KIAA0753	HP:0000750	Delayed speech and language development	3/3	OMIM:619479
9851	KIAA0753	HP:0000750	Delayed speech and language development	-	OMIM:615777
9851	KIAA0753	HP:0011461	Fetal onset	7/7	OMIM:615777
9851	KIAA0753	HP:0011461	Fetal onset	1/4	OMIM:619479
9851	KIAA0753	HP:0000774	Narrow chest	HP:0040281	ORPHA:474
9851	KIAA0753	HP:0000774	Narrow chest	2/7	OMIM:615777
9851	KIAA0753	HP:0000774	Narrow chest	1/1	OMIM:619479
9851	KIAA0753	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
9851	KIAA0753	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0000926	Platyspondyly	1/7	OMIM:615777
9851	KIAA0753	HP:0003180	Flat acetabular roof	-	OMIM:615777
9851	KIAA0753	HP:0004482	Relative macrocephaly	-	OMIM:615777
9851	KIAA0753	HP:0005792	Short humerus	1/4	OMIM:619479
9851	KIAA0753	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9851	KIAA0753	HP:0000889	Abnormal clavicle morphology	HP:0040282	ORPHA:474
9851	KIAA0753	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0000824	Decreased response to growth hormone stimulation test	1/2	OMIM:619476
9851	KIAA0753	HP:0000823	Delayed puberty	-	OMIM:131300
9851	KIAA0753	HP:0040019	Finger clinodactyly	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0000894	Short clavicles	-	OMIM:615777
9851	KIAA0753	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9851	KIAA0753	HP:0000998	Hypertrichosis	1/1	OMIM:619479
9851	KIAA0753	HP:0100260	Mesoaxial polydactyly	HP:0040283	ORPHA:2754
9851	KIAA0753	HP:0100258	Preaxial polydactyly	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0010306	Short thorax	HP:0040281	ORPHA:474
9851	KIAA0753	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9851	KIAA0753	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:474
9851	KIAA0753	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:474
9851	KIAA0753	HP:0000286	Epicanthus	2/2	OMIM:619476
9851	KIAA0753	HP:0000286	Epicanthus	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0000286	Epicanthus	1/7	OMIM:615777
9851	KIAA0753	HP:0000280	Coarse facial features	2/7	OMIM:615777
9851	KIAA0753	HP:0000276	Long face	HP:0040282	ORPHA:475
9851	KIAA0753	HP:0000276	Long face	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0002827	Hip dislocation	3/7	OMIM:615777
9851	KIAA0753	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0000252	Microcephaly	-	OMIM:615777
9851	KIAA0753	HP:0000218	High palate	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
9851	KIAA0753	HP:0002876	Episodic tachypnea	HP:0040283	ORPHA:2754
9851	KIAA0753	HP:0000200	Short lingual frenulum	1/4	OMIM:619479
9851	KIAA0753	HP:0002857	Genu valgum	-	OMIM:131300
9851	KIAA0753	HP:0001538	Protuberant abdomen	3/4	OMIM:619479
9851	KIAA0753	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0001533	Slender build	-	OMIM:131300
9851	KIAA0753	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9851	KIAA0753	HP:0001510	Growth delay	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0007807	Optic nerve compression	-	OMIM:131300
9851	KIAA0753	HP:0012368	Flat face	7/7	OMIM:615777
9851	KIAA0753	HP:0012368	Flat face	3/4	OMIM:619479
9851	KIAA0753	HP:0012368	Flat face	1/1	OMIM:617127
9851	KIAA0753	HP:0005257	Thoracic hypoplasia	4/4	OMIM:619479
9851	KIAA0753	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9851	KIAA0753	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0000365	Hearing impairment	10/67	OMIM:131300
9851	KIAA0753	HP:0000358	Posteriorly rotated ears	2/2	OMIM:619476
9851	KIAA0753	HP:0000358	Posteriorly rotated ears	1/4	OMIM:619479
9851	KIAA0753	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0000369	Low-set ears	1/2	OMIM:619476
9851	KIAA0753	HP:0000369	Low-set ears	2/4	OMIM:619479
9851	KIAA0753	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0000369	Low-set ears	1/1	OMIM:617127
9851	KIAA0753	HP:0000343	Long philtrum	1/4	OMIM:619479
9851	KIAA0753	HP:0000343	Long philtrum	1/7	OMIM:615777
9851	KIAA0753	HP:0011001	Increased bone mineral density	-	OMIM:131300
9851	KIAA0753	HP:0000347	Micrognathia	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0002983	Micromelia	HP:0040281	ORPHA:474
9851	KIAA0753	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0000316	Hypertelorism	1/1	OMIM:617127
9851	KIAA0753	HP:0000311	Round face	2/7	OMIM:615777
9851	KIAA0753	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2754
9851	KIAA0753	HP:0002970	Genu varum	-	OMIM:615777
9851	KIAA0753	HP:0000303	Mandibular prognathia	-	OMIM:131300
9851	KIAA0753	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0005280	Depressed nasal bridge	2/4	OMIM:619479
9851	KIAA0753	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9851	KIAA0753	HP:0000486	Strabismus	1/2	OMIM:619476
9851	KIAA0753	HP:0000486	Strabismus	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0000463	Anteverted nares	1/1	OMIM:617127
9851	KIAA0753	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0000470	Short neck	1/7	OMIM:615777
9851	KIAA0753	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:474
9851	KIAA0753	HP:0001773	Short foot	HP:0040282	ORPHA:474
9851	KIAA0753	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9851	KIAA0753	HP:0001763	Pes planus	1/7	OMIM:615777
9851	KIAA0753	HP:0000431	Wide nasal bridge	1/1	OMIM:617127
9851	KIAA0753	HP:0000431	Wide nasal bridge	1/4	OMIM:619479
9851	KIAA0753	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:2754
9851	KIAA0753	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040283	ORPHA:474
9851	KIAA0753	HP:0012506	Small pituitary gland	1/2	OMIM:619476
9851	KIAA0753	HP:0012506	Small pituitary gland	2/4	OMIM:619479
9851	KIAA0753	HP:0001840	Metatarsus adductus	-	OMIM:615777
9851	KIAA0753	HP:0000520	Proptosis	2/4	OMIM:131300
9851	KIAA0753	HP:0000520	Proptosis	7/7	OMIM:615777
9851	KIAA0753	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:2754
9851	KIAA0753	HP:0000508	Ptosis	HP:0040283	ORPHA:475
9851	KIAA0753	HP:0001830	Postaxial foot polydactyly	HP:0040283	ORPHA:474
9851	KIAA0753	HP:0030353	Decreased serum insulin-like growth factor 1	2/2	OMIM:619476
9851	KIAA0753	HP:0000592	Blue sclerae	2/7	OMIM:615777
9851	KIAA0753	HP:0011220	Prominent forehead	1/2	OMIM:619476
9851	KIAA0753	HP:0000565	Esotropia	1/2	OMIM:619476
9851	KIAA0753	HP:0000565	Esotropia	HP:0040282	ORPHA:2754
9851	KIAA0753	HP:0000540	Hypermetropia	1/2	OMIM:619476
9851	KIAA0753	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9851	KIAA0753	HP:0012514	Lower limb pain	4/4	OMIM:131300
9853	RUSC2	HP:0001182	Tapered finger	1/3	OMIM:617773
9853	RUSC2	HP:0003701	Proximal muscle weakness	1/3	OMIM:617773
9853	RUSC2	HP:0100807	Long fingers	1/3	OMIM:617773
9853	RUSC2	HP:0001270	Motor delay	1/3	OMIM:617773
9853	RUSC2	HP:0001252	Hypotonia	3/3	OMIM:617773
9853	RUSC2	HP:0001249	Intellectual disability	3/3	OMIM:617773
9853	RUSC2	HP:0001263	Global developmental delay	-	OMIM:617773
9853	RUSC2	HP:0001257	Spasticity	2/3	OMIM:617773
9853	RUSC2	HP:0100874	Thick hair	1/3	OMIM:617773
9853	RUSC2	HP:0001212	Prominent fingertip pads	2/3	OMIM:617773
9853	RUSC2	HP:0002553	Highly arched eyebrow	-	OMIM:617773
9853	RUSC2	HP:0002521	Hypsarrhythmia	1/3	OMIM:617773
9853	RUSC2	HP:0001382	Joint hypermobility	1/3	OMIM:617773
9853	RUSC2	HP:0001347	Hyperreflexia	2/3	OMIM:617773
9853	RUSC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617773
9853	RUSC2	HP:0001310	Dysmetria	1/3	OMIM:617773
9853	RUSC2	HP:0002650	Scoliosis	1/3	OMIM:617773
9853	RUSC2	HP:0008936	Axial hypotonia	11/13	OMIM:617773
9853	RUSC2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040284	OMIM:617773
9853	RUSC2	HP:0003487	Babinski sign	1/3	OMIM:617773
9853	RUSC2	HP:0002169	Clonus	1/3	OMIM:617773
9853	RUSC2	HP:0003593	Infantile onset	-	OMIM:617773
9853	RUSC2	HP:0003577	Congenital onset	3/3	OMIM:617773
9853	RUSC2	HP:0002353	EEG abnormality	HP:0040284	OMIM:617773
9853	RUSC2	HP:0002317	Unsteady gait	1/3	OMIM:617773
9853	RUSC2	HP:0010819	Atonic seizure	1/3	OMIM:617773
9853	RUSC2	HP:0000698	Conical tooth	1/3	OMIM:617773
9853	RUSC2	HP:0000664	Synophrys	1/3	OMIM:617773
9853	RUSC2	HP:0031936	Delayed ability to walk	-	OMIM:617773
9853	RUSC2	HP:0000752	Hyperactivity	1/3	OMIM:617773
9853	RUSC2	HP:0000750	Delayed speech and language development	-	OMIM:617773
9853	RUSC2	HP:0000718	Aggressive behavior	1/3	OMIM:617773
9853	RUSC2	HP:0003199	Decreased muscle mass	-	OMIM:617773
9853	RUSC2	HP:0000276	Long face	2/3	OMIM:617773
9853	RUSC2	HP:0000268	Dolichocephaly	1/3	OMIM:617773
9853	RUSC2	HP:0000218	High palate	2/3	OMIM:617773
9853	RUSC2	HP:0000358	Posteriorly rotated ears	1/3	OMIM:617773
9853	RUSC2	HP:0000369	Low-set ears	1/3	OMIM:617773
9853	RUSC2	HP:0032792	Tonic seizure	2/3	OMIM:617773
9853	RUSC2	HP:0000316	Hypertelorism	1/3	OMIM:617773
9853	RUSC2	HP:0000303	Mandibular prognathia	1/3	OMIM:617773
9853	RUSC2	HP:0012469	Infantile spasms	2/3	OMIM:617773
9853	RUSC2	HP:0012444	Brain atrophy	1/3	OMIM:617773
9853	RUSC2	HP:0000448	Prominent nose	1/3	OMIM:617773
9853	RUSC2	HP:0000414	Bulbous nose	2/3	OMIM:617773
9853	RUSC2	HP:0001762	Talipes equinovarus	1/3	OMIM:617773
9853	RUSC2	HP:0001761	Pes cavus	1/3	OMIM:617773
9853	RUSC2	HP:0005484	Secondary microcephaly	-	OMIM:617773
9853	RUSC2	HP:0000527	Long eyelashes	1/3	OMIM:617773
9853	RUSC2	HP:0000574	Thick eyebrow	1/3	OMIM:617773
9860	LRIG2	HP:0000083	Renal insufficiency	1/5	OMIM:615112
9860	LRIG2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:2704
9860	LRIG2	HP:0000076	Vesicoureteral reflux	4/5	OMIM:615112
9860	LRIG2	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2704
9860	LRIG2	HP:0000021	Megacystis	1/5	OMIM:615112
9860	LRIG2	HP:0000020	Urinary incontinence	HP:0040282	ORPHA:2704
9860	LRIG2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:2704
9860	LRIG2	HP:0000010	Recurrent urinary tract infections	-	OMIM:615112
9860	LRIG2	HP:0000010	Recurrent urinary tract infections	HP:0040281	ORPHA:2704
9860	LRIG2	HP:0000012	Urinary urgency	4/5	OMIM:615112
9860	LRIG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615112
9860	LRIG2	HP:0032465	Bladder trabeculation	1/4	OMIM:615112
9860	LRIG2	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:2704
9860	LRIG2	HP:0000126	Hydronephrosis	1/5	OMIM:615112
9860	LRIG2	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:2704
9860	LRIG2	HP:0002019	Constipation	3/5	OMIM:615112
9860	LRIG2	HP:0002019	Constipation	HP:0040282	ORPHA:2704
9860	LRIG2	HP:0003593	Infantile onset	1/5	OMIM:615112
9860	LRIG2	HP:0003621	Juvenile onset	3/5	OMIM:615112
9860	LRIG2	HP:0001959	Polydipsia	HP:0040283	ORPHA:2704
9860	LRIG2	HP:0000805	Enuresis	2/5	OMIM:615112
9860	LRIG2	HP:0011463	Childhood onset	1/5	OMIM:615112
9860	LRIG2	HP:0000796	Urethral obstruction	HP:0040282	ORPHA:2704
9860	LRIG2	HP:0000822	Hypertension	HP:0040283	ORPHA:2704
9860	LRIG2	HP:0000273	Facial grimacing	3/9	OMIM:615112
9860	LRIG2	HP:0005340	Spastic/hyperactive bladder	1/4	OMIM:615112
9863	MAGI2	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
9863	MAGI2	HP:0003774	Stage 5 chronic kidney disease	1/3	OMIM:617609
9863	MAGI2	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
9863	MAGI2	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
9863	MAGI2	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
9863	MAGI2	HP:0000093	Proteinuria	3/3	OMIM:617609
9863	MAGI2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617609
9863	MAGI2	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
9863	MAGI2	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
9863	MAGI2	HP:0003593	Infantile onset	3/3	OMIM:617609
9863	MAGI2	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
9863	MAGI2	HP:0002315	Headache	HP:0040283	ORPHA:656
9863	MAGI2	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
9863	MAGI2	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
9863	MAGI2	HP:0001945	Fever	HP:0040283	ORPHA:656
9863	MAGI2	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
9863	MAGI2	HP:0003073	Hypoalbuminemia	3/3	OMIM:617609
9863	MAGI2	HP:0000737	Irritability	HP:0040283	ORPHA:656
9863	MAGI2	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
9863	MAGI2	HP:0000969	Edema	HP:0040281	ORPHA:656
9863	MAGI2	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
9863	MAGI2	HP:0012588	Steroid-resistant nephrotic syndrome	3/3	OMIM:617609
9863	MAGI2	HP:0012579	Minimal change glomerulonephritis	1/3	OMIM:617609
9863	MAGI2	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
9871	SEC24D	HP:0010862	Delayed fine motor development	2/5	OMIM:616294
9871	SEC24D	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9871	SEC24D	HP:0001293	Cranial nerve compression	-	OMIM:131300
9871	SEC24D	HP:0001256	Intellectual disability, mild	-	OMIM:259770
9871	SEC24D	HP:0001252	Hypotonia	HP:0040282	ORPHA:2050
9871	SEC24D	HP:0001252	Hypotonia	-	OMIM:259770
9871	SEC24D	HP:0001252	Hypotonia	4/5	OMIM:616294
9871	SEC24D	HP:0001252	Hypotonia	2/7	OMIM:615777
9871	SEC24D	HP:0001249	Intellectual disability	5/7	OMIM:615777
9871	SEC24D	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2050
9871	SEC24D	HP:0001263	Global developmental delay	1/1	OMIM:612394
9871	SEC24D	HP:0001263	Global developmental delay	0/1	OMIM:616294
9871	SEC24D	HP:0001263	Global developmental delay	-	OMIM:615777
9871	SEC24D	HP:0002515	Waddling gait	54/102	OMIM:131300
9871	SEC24D	HP:0001382	Joint hypermobility	-	OMIM:259770
9871	SEC24D	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:2050
9871	SEC24D	HP:0001382	Joint hypermobility	-	OMIM:615777
9871	SEC24D	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
9871	SEC24D	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9871	SEC24D	HP:0008897	Postnatal growth retardation	-	OMIM:616294
9871	SEC24D	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9871	SEC24D	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
9871	SEC24D	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
9871	SEC24D	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
9871	SEC24D	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9871	SEC24D	HP:0001324	Muscle weakness	40/96	OMIM:131300
9871	SEC24D	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9871	SEC24D	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
9871	SEC24D	HP:0000007	Autosomal recessive inheritance	-	OMIM:616294
9871	SEC24D	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9871	SEC24D	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
9871	SEC24D	HP:0001334	Communicating hydrocephalus	HP:0040282	ORPHA:2050
9871	SEC24D	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9871	SEC24D	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:2050
9871	SEC24D	HP:0002650	Scoliosis	1/5	OMIM:259770
9871	SEC24D	HP:0002650	Scoliosis	1/1	OMIM:612394
9871	SEC24D	HP:0002650	Scoliosis	HP:0040282	ORPHA:2050
9871	SEC24D	HP:0002650	Scoliosis	12/14	OMIM:131300
9871	SEC24D	HP:0002645	Wormian bones	HP:0040282	ORPHA:2050
9871	SEC24D	HP:0002645	Wormian bones	3/5	OMIM:616294
9871	SEC24D	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9871	SEC24D	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9871	SEC24D	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9871	SEC24D	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9871	SEC24D	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
9871	SEC24D	HP:0000175	Cleft palate	2/7	OMIM:615777
9871	SEC24D	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:2050
9871	SEC24D	HP:0002757	Recurrent fractures	1/1	OMIM:616294
9871	SEC24D	HP:0002757	Recurrent fractures	4/5	OMIM:259770
9871	SEC24D	HP:0002756	Pathologic fracture	-	OMIM:259770
9871	SEC24D	HP:0002756	Pathologic fracture	1/1	OMIM:612394
9871	SEC24D	HP:0002751	Kyphoscoliosis	-	OMIM:259770
9871	SEC24D	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
9871	SEC24D	HP:0002007	Frontal bossing	6/6	OMIM:616294
9871	SEC24D	HP:0002007	Frontal bossing	HP:0040281	ORPHA:2050
9871	SEC24D	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:2050
9871	SEC24D	HP:0011800	Midface retrusion	3/3	OMIM:616294
9871	SEC24D	HP:0011800	Midface retrusion	HP:0040281	ORPHA:2050
9871	SEC24D	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
9871	SEC24D	HP:0003388	Easy fatigability	36/76	OMIM:131300
9871	SEC24D	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9871	SEC24D	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
9871	SEC24D	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
9871	SEC24D	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
9871	SEC24D	HP:0002164	Nail dysplasia	1/1	OMIM:612394
9871	SEC24D	HP:0010557	Overlapping fingers	1/2	OMIM:612394
9871	SEC24D	HP:0010537	Wide cranial sutures	4/4	OMIM:616294
9871	SEC24D	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
9871	SEC24D	HP:0003593	Infantile onset	1/5	OMIM:259770
9871	SEC24D	HP:0003577	Congenital onset	4/5	OMIM:259770
9871	SEC24D	HP:0002208	Coarse hair	1/1	OMIM:612394
9871	SEC24D	HP:0003510	Severe short stature	7/7	OMIM:615777
9871	SEC24D	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
9871	SEC24D	HP:0025019	Arterial rupture	1/1	OMIM:612394
9871	SEC24D	HP:0002315	Headache	-	OMIM:131300
9871	SEC24D	HP:0004976	Knee dislocation	6/7	OMIM:615777
9871	SEC24D	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
9871	SEC24D	HP:0009803	Short phalanx of finger	-	OMIM:615777
9871	SEC24D	HP:0001089	Iris atrophy	-	OMIM:259770
9871	SEC24D	HP:0009763	Limb pain	63/92	OMIM:131300
9871	SEC24D	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
9871	SEC24D	HP:0003621	Juvenile onset	-	OMIM:131300
9871	SEC24D	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
9871	SEC24D	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9871	SEC24D	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9871	SEC24D	HP:6001056	Out-toeing	-	OMIM:131300
9871	SEC24D	HP:0000651	Diplopia	-	OMIM:131300
9871	SEC24D	HP:0000618	Blindness	5/5	OMIM:259770
9871	SEC24D	HP:0001956	Truncal obesity	2/7	OMIM:615777
9871	SEC24D	HP:0001903	Anemia	HP:0040283	OMIM:131300
9871	SEC24D	HP:0010049	Short metacarpal	-	OMIM:615777
9871	SEC24D	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:2050
9871	SEC24D	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:2050
9871	SEC24D	HP:0000678	Dental crowding	-	OMIM:615777
9871	SEC24D	HP:0000670	Carious teeth	-	OMIM:131300
9871	SEC24D	HP:0011304	Broad thumb	2/7	OMIM:615777
9871	SEC24D	HP:0000668	Hypodontia	-	OMIM:615777
9871	SEC24D	HP:0000667	Phthisis bulbi	-	OMIM:259770
9871	SEC24D	HP:0000664	Synophrys	-	OMIM:615777
9871	SEC24D	HP:0004322	Short stature	HP:0040281	ORPHA:2050
9871	SEC24D	HP:0004322	Short stature	-	OMIM:259770
9871	SEC24D	HP:0004322	Short stature	6/6	OMIM:616294
9871	SEC24D	HP:0030674	Antenatal onset	1/1	OMIM:616294
9871	SEC24D	HP:0004396	Poor appetite	-	OMIM:131300
9871	SEC24D	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9871	SEC24D	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9871	SEC24D	HP:0003016	Metaphyseal widening	-	OMIM:259770
9871	SEC24D	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9871	SEC24D	HP:0003026	Short long bone	7/7	OMIM:615777
9871	SEC24D	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9871	SEC24D	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:2050
9871	SEC24D	HP:0000767	Pectus excavatum	1/1	OMIM:616294
9871	SEC24D	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9871	SEC24D	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9871	SEC24D	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9871	SEC24D	HP:0000750	Delayed speech and language development	-	OMIM:615777
9871	SEC24D	HP:0000703	Dentinogenesis imperfecta	-	OMIM:616294
9871	SEC24D	HP:0011461	Fetal onset	7/7	OMIM:615777
9871	SEC24D	HP:0011461	Fetal onset	2/2	OMIM:612394
9871	SEC24D	HP:0000774	Narrow chest	2/7	OMIM:615777
9871	SEC24D	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
9871	SEC24D	HP:0004443	Lambdoidal craniosynostosis	-	OMIM:616294
9871	SEC24D	HP:0004440	Coronal craniosynostosis	6/7	OMIM:616294
9871	SEC24D	HP:0003196	Short nose	1/1	OMIM:612394
9871	SEC24D	HP:0000926	Platyspondyly	-	OMIM:616294
9871	SEC24D	HP:0000926	Platyspondyly	-	OMIM:259770
9871	SEC24D	HP:0000926	Platyspondyly	1/7	OMIM:615777
9871	SEC24D	HP:0000926	Platyspondyly	1/1	OMIM:612394
9871	SEC24D	HP:0003180	Flat acetabular roof	-	OMIM:615777
9871	SEC24D	HP:0004482	Relative macrocephaly	-	OMIM:615777
9871	SEC24D	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9871	SEC24D	HP:0000883	Thin ribs	-	OMIM:616294
9871	SEC24D	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
9871	SEC24D	HP:0000823	Delayed puberty	-	OMIM:131300
9871	SEC24D	HP:0000894	Short clavicles	-	OMIM:615777
9871	SEC24D	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
9871	SEC24D	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9871	SEC24D	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
9871	SEC24D	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
9871	SEC24D	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9871	SEC24D	HP:0000939	Osteoporosis	4/5	OMIM:259770
9871	SEC24D	HP:0000938	Osteopenia	7/7	OMIM:616294
9871	SEC24D	HP:0000938	Osteopenia	1/5	OMIM:259770
9871	SEC24D	HP:0000938	Osteopenia	1/1	OMIM:612394
9871	SEC24D	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2050
9871	SEC24D	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
9871	SEC24D	HP:0000286	Epicanthus	1/7	OMIM:615777
9871	SEC24D	HP:0000280	Coarse facial features	2/7	OMIM:615777
9871	SEC24D	HP:0000262	Turricephaly	HP:0040282	ORPHA:2050
9871	SEC24D	HP:0000262	Turricephaly	-	OMIM:616294
9871	SEC24D	HP:0000256	Macrocephaly	4/5	OMIM:616294
9871	SEC24D	HP:0000272	Malar flattening	1/1	OMIM:612394
9871	SEC24D	HP:0007773	Vitreoretinopathy	-	OMIM:259770
9871	SEC24D	HP:0002827	Hip dislocation	3/7	OMIM:615777
9871	SEC24D	HP:0002808	Kyphosis	-	OMIM:616294
9871	SEC24D	HP:0002808	Kyphosis	1/5	OMIM:259770
9871	SEC24D	HP:0002808	Kyphosis	HP:0040282	ORPHA:2050
9871	SEC24D	HP:0006367	Crumpled long bones	HP:0040281	ORPHA:2050
9871	SEC24D	HP:0000238	Hydrocephalus	5/6	OMIM:616294
9871	SEC24D	HP:0000252	Microcephaly	-	OMIM:259770
9871	SEC24D	HP:0000252	Microcephaly	-	OMIM:615777
9871	SEC24D	HP:0001552	Barrel-shaped chest	-	OMIM:259770
9871	SEC24D	HP:0000218	High palate	-	OMIM:616294
9871	SEC24D	HP:0001562	Oligohydramnios	-	OMIM:616294
9871	SEC24D	HP:0002857	Genu valgum	-	OMIM:131300
9871	SEC24D	HP:0002868	Narrow iliac wing	1/1	OMIM:616294
9871	SEC24D	HP:0001533	Slender build	-	OMIM:131300
9871	SEC24D	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2050
9871	SEC24D	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9871	SEC24D	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
9871	SEC24D	HP:0007807	Optic nerve compression	-	OMIM:131300
9871	SEC24D	HP:0012368	Flat face	7/7	OMIM:615777
9871	SEC24D	HP:0012368	Flat face	1/1	OMIM:612394
9871	SEC24D	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
9871	SEC24D	HP:0007875	Congenital blindness	4/5	OMIM:259770
9871	SEC24D	HP:0007862	Retinal calcification	1/5	OMIM:259770
9871	SEC24D	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:2050
9871	SEC24D	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9871	SEC24D	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:2050
9871	SEC24D	HP:0000365	Hearing impairment	10/67	OMIM:131300
9871	SEC24D	HP:0000369	Low-set ears	2/2	OMIM:612394
9871	SEC24D	HP:0000343	Long philtrum	1/7	OMIM:615777
9871	SEC24D	HP:0011001	Increased bone mineral density	-	OMIM:131300
9871	SEC24D	HP:0000347	Micrognathia	HP:0040281	ORPHA:2050
9871	SEC24D	HP:0002982	Tibial bowing	1/5	OMIM:259770
9871	SEC24D	HP:0000316	Hypertelorism	-	OMIM:616294
9871	SEC24D	HP:0000311	Round face	2/7	OMIM:615777
9871	SEC24D	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
9871	SEC24D	HP:0000325	Triangular face	-	OMIM:616294
9871	SEC24D	HP:0001629	Ventricular septal defect	-	OMIM:259770
9871	SEC24D	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
9871	SEC24D	HP:0001620	Abnormally high-pitched voice	5/5	OMIM:616294
9871	SEC24D	HP:0002970	Genu varum	-	OMIM:615777
9871	SEC24D	HP:0000308	Microretrognathia	5/5	OMIM:616294
9871	SEC24D	HP:0000307	Pointed chin	1/2	OMIM:612394
9871	SEC24D	HP:0000303	Mandibular prognathia	-	OMIM:131300
9871	SEC24D	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
9871	SEC24D	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9871	SEC24D	HP:0000494	Downslanted palpebral fissures	-	OMIM:616294
9871	SEC24D	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:2050
9871	SEC24D	HP:0000463	Anteverted nares	1/1	OMIM:612394
9871	SEC24D	HP:0000470	Short neck	1/7	OMIM:615777
9871	SEC24D	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9871	SEC24D	HP:0001763	Pes planus	1/7	OMIM:615777
9871	SEC24D	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
9871	SEC24D	HP:0000518	Cataract	1/5	OMIM:259770
9871	SEC24D	HP:0000518	Cataract	1/1	OMIM:612394
9871	SEC24D	HP:0001840	Metatarsus adductus	-	OMIM:615777
9871	SEC24D	HP:0000520	Proptosis	HP:0040281	ORPHA:2050
9871	SEC24D	HP:0000520	Proptosis	2/4	OMIM:131300
9871	SEC24D	HP:0000520	Proptosis	6/7	OMIM:616294
9871	SEC24D	HP:0000520	Proptosis	7/7	OMIM:615777
9871	SEC24D	HP:0000592	Blue sclerae	HP:0040281	ORPHA:2050
9871	SEC24D	HP:0000592	Blue sclerae	-	OMIM:616294
9871	SEC24D	HP:0000592	Blue sclerae	2/7	OMIM:615777
9871	SEC24D	HP:0000586	Shallow orbits	1/1	OMIM:612394
9871	SEC24D	HP:0000568	Microphthalmia	1/5	OMIM:259770
9871	SEC24D	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9871	SEC24D	HP:0012514	Lower limb pain	4/4	OMIM:131300
9871	SEC24D	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
9871	SEC24D	HP:0000545	Myopia	1/1	OMIM:612394
9881	TRANK1	HP:0001289	Confusion	HP:0040281	ORPHA:33543
9881	TRANK1	HP:0025233	Sleep paralysis	HP:0040283	ORPHA:33543
9881	TRANK1	HP:0002591	Polyphagia	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0008762	Repetitive compulsive behavior	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0002519	Hypnagogic hallucination	HP:0040283	ORPHA:33543
9881	TRANK1	HP:0001350	Slurred speech	HP:0040283	ORPHA:33543
9881	TRANK1	HP:0031217	Hot flashes	HP:0040283	ORPHA:33543
9881	TRANK1	HP:0031249	Parageusia	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0002018	Nausea	HP:0040283	ORPHA:33543
9881	TRANK1	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:33543
9881	TRANK1	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0010534	Transient global amnesia	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0046504	Decreased libido	HP:0040283	ORPHA:33543
9881	TRANK1	HP:0100738	Abnormal eating behavior	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0007057	Poor hand-eye coordination	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0002315	Headache	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0007200	Episodic hypersomnia	HP:0040281	ORPHA:33543
9881	TRANK1	HP:0002300	Mutism	HP:0040283	ORPHA:33543
9881	TRANK1	HP:5200321	Amplification of sexual behavior	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0000613	Photophobia	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0001945	Fever	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0001959	Polydipsia	HP:0040283	ORPHA:33543
9881	TRANK1	HP:0000622	Blurred vision	HP:0040283	ORPHA:33543
9881	TRANK1	HP:0034004	Parosmia	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0004396	Poor appetite	HP:0040283	ORPHA:33543
9881	TRANK1	HP:5200218	Derealization	HP:0040283	ORPHA:33543
9881	TRANK1	HP:0000737	Irritability	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0000739	Anxiety	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0000746	Delusion	HP:0040283	ORPHA:33543
9881	TRANK1	HP:0000741	Apathy	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0000716	Depression	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0000713	Agitation	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:33543
9881	TRANK1	HP:0030221	Sweet craving	HP:0040283	ORPHA:33543
9885	OSBPL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616340
9885	OSBPL2	HP:0000360	Tinnitus	-	OMIM:616340
9885	OSBPL2	HP:0000407	Sensorineural hearing impairment	-	OMIM:616340
9894	TELO2	HP:0001182	Tapered finger	HP:0040283	ORPHA:488642
9894	TELO2	HP:0001156	Brachydactyly	3/6	OMIM:616954
9894	TELO2	HP:0001156	Brachydactyly	HP:0040282	ORPHA:488642
9894	TELO2	HP:0002465	Poor speech	HP:0040282	ORPHA:488642
9894	TELO2	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:488642
9894	TELO2	HP:0001276	Hypertonia	HP:0040283	ORPHA:488642
9894	TELO2	HP:0001250	Seizure	1/6	OMIM:616954
9894	TELO2	HP:0001250	Seizure	HP:0040282	ORPHA:488642
9894	TELO2	HP:0001252	Hypotonia	4/6	OMIM:616954
9894	TELO2	HP:0001251	Ataxia	1/6	OMIM:616954
9894	TELO2	HP:0001251	Ataxia	HP:0040283	ORPHA:488642
9894	TELO2	HP:0001249	Intellectual disability	6/6	OMIM:616954
9894	TELO2	HP:0001263	Global developmental delay	6/6	OMIM:616954
9894	TELO2	HP:0001257	Spasticity	1/6	OMIM:616954
9894	TELO2	HP:0001257	Spasticity	HP:0040282	ORPHA:488642
9894	TELO2	HP:0410263	Brain imaging abnormality	0/6	OMIM:616954
9894	TELO2	HP:0002540	Inability to walk	HP:0040282	ORPHA:488642
9894	TELO2	HP:0000081	Duplicated collecting system	HP:0040283	ORPHA:488642
9894	TELO2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:488642
9894	TELO2	HP:0008780	Congenital bilateral hip dislocation	HP:0040283	ORPHA:488642
9894	TELO2	HP:0001344	Absent speech	1/6	OMIM:616954
9894	TELO2	HP:0001344	Absent speech	HP:0040282	ORPHA:488642
9894	TELO2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616954
9894	TELO2	HP:0000191	Accessory oral frenulum	1/6	OMIM:616954
9894	TELO2	HP:0000175	Cleft palate	1/6	OMIM:616954
9894	TELO2	HP:0000175	Cleft palate	HP:0040283	ORPHA:488642
9894	TELO2	HP:0008947	Floppy infant	HP:0040282	ORPHA:488642
9894	TELO2	HP:0007598	Bilateral single transverse palmar creases	HP:0040283	ORPHA:488642
9894	TELO2	HP:0002751	Kyphoscoliosis	3/6	OMIM:616954
9894	TELO2	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:488642
9894	TELO2	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:488642
9894	TELO2	HP:0004692	4-5 toe syndactyly	HP:0040282	ORPHA:488642
9894	TELO2	HP:0030962	Abnormal morphology of the great vessels	HP:0040282	ORPHA:488642
9894	TELO2	HP:0002141	Gait imbalance	HP:0040281	ORPHA:488642
9894	TELO2	HP:0003593	Infantile onset	4/6	OMIM:616954
9894	TELO2	HP:0003577	Congenital onset	1/6	OMIM:616954
9894	TELO2	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:488642
9894	TELO2	HP:0100704	Cerebral visual impairment	4/6	OMIM:616954
9894	TELO2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:488642
9894	TELO2	HP:0020045	Esodeviation	HP:0040283	ORPHA:488642
9894	TELO2	HP:0002360	Sleep abnormality	3/6	OMIM:616954
9894	TELO2	HP:0008513	Bilateral conductive hearing impairment	HP:0040283	ORPHA:488642
9894	TELO2	HP:0200055	Small hand	HP:0040283	ORPHA:488642
9894	TELO2	HP:0010775	Vascular ring	1/6	OMIM:616954
9894	TELO2	HP:0003623	Neonatal onset	1/6	OMIM:616954
9894	TELO2	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:488642
9894	TELO2	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:488642
9894	TELO2	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:488642
9894	TELO2	HP:0004322	Short stature	HP:0040282	ORPHA:488642
9894	TELO2	HP:0006979	Sleep-wake cycle disturbance	HP:0040283	ORPHA:488642
9894	TELO2	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:488642
9894	TELO2	HP:0100022	Abnormality of movement	-	OMIM:616954
9894	TELO2	HP:0000767	Pectus excavatum	1/6	OMIM:616954
9894	TELO2	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:488642
9894	TELO2	HP:0000749	Paroxysmal bursts of laughter	3/6	OMIM:616954
9894	TELO2	HP:0011451	Primary microcephaly	HP:0040281	ORPHA:488642
9894	TELO2	HP:0010296	Ankyloglossia	HP:0040283	ORPHA:488642
9894	TELO2	HP:0011590	Double aortic arch	2/6	OMIM:616954
9894	TELO2	HP:0003273	Hip contracture	HP:0040283	ORPHA:488642
9894	TELO2	HP:0030084	Clinodactyly	4/6	OMIM:616954
9894	TELO2	HP:0030084	Clinodactyly	HP:0040282	ORPHA:488642
9894	TELO2	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:488642
9894	TELO2	HP:0001583	Rotary nystagmus	HP:0040283	ORPHA:488642
9894	TELO2	HP:0001583	Rotary nystagmus	2/6	OMIM:616954
9894	TELO2	HP:0000252	Microcephaly	6/6	OMIM:616954
9894	TELO2	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:488642
9894	TELO2	HP:0000365	Hearing impairment	3/6	OMIM:616954
9894	TELO2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:488642
9894	TELO2	HP:0001680	Coarctation of aorta	1/6	OMIM:616954
9894	TELO2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:488642
9894	TELO2	HP:0000308	Microretrognathia	HP:0040283	ORPHA:488642
9894	TELO2	HP:0001734	Annular pancreas	HP:0040283	ORPHA:488642
9894	TELO2	HP:0001773	Short foot	HP:0040283	ORPHA:488642
9894	TELO2	HP:0000519	Developmental cataract	HP:0040283	ORPHA:488642
9894	TELO2	HP:0001845	Overlapping toe	HP:0040283	ORPHA:488642
9894	TELO2	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:488642
9894	TELO2	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:488642
9894	TELO2	HP:0001800	Hypoplastic toenails	HP:0040283	ORPHA:488642
9894	TELO2	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:488642
9894	TELO2	HP:0000592	Blue sclerae	HP:0040283	ORPHA:488642
9895	TECPR2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:320385
9895	TECPR2	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:320385
9895	TECPR2	HP:0001284	Areflexia	5/5	OMIM:615031
9895	TECPR2	HP:0001284	Areflexia	HP:0040282	ORPHA:320385
9895	TECPR2	HP:0001250	Seizure	HP:0040283	ORPHA:320385
9895	TECPR2	HP:0001252	Hypotonia	5/5	OMIM:615031
9895	TECPR2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:320385
9895	TECPR2	HP:0001249	Intellectual disability	5/5	OMIM:615031
9895	TECPR2	HP:0001260	Dysarthria	-	OMIM:615031
9895	TECPR2	HP:0001260	Dysarthria	HP:0040282	ORPHA:320385
9895	TECPR2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:320385
9895	TECPR2	HP:0001263	Global developmental delay	5/5	OMIM:615031
9895	TECPR2	HP:0001258	Spastic paraplegia	-	OMIM:615031
9895	TECPR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615031
9895	TECPR2	HP:0001310	Dysmetria	-	OMIM:615031
9895	TECPR2	HP:0001310	Dysmetria	HP:0040282	ORPHA:320385
9895	TECPR2	HP:0002020	Gastroesophageal reflux	5/5	OMIM:615031
9895	TECPR2	HP:0002069	Bilateral tonic-clonic seizure	2/5	OMIM:615031
9895	TECPR2	HP:0002066	Gait ataxia	4/4	OMIM:615031
9895	TECPR2	HP:0002066	Gait ataxia	HP:0040282	ORPHA:320385
9895	TECPR2	HP:0002064	Spastic gait	4/4	OMIM:615031
9895	TECPR2	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:615031
9895	TECPR2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:320385
9895	TECPR2	HP:0002059	Cerebral atrophy	2/2	OMIM:615031
9895	TECPR2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:320385
9895	TECPR2	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:320385
9895	TECPR2	HP:0000678	Dental crowding	5/5	OMIM:615031
9895	TECPR2	HP:0000678	Dental crowding	HP:0040282	ORPHA:320385
9895	TECPR2	HP:0004322	Short stature	HP:0040282	ORPHA:320385
9895	TECPR2	HP:0004322	Short stature	5/5	OMIM:615031
9895	TECPR2	HP:0011463	Childhood onset	5/5	OMIM:615031
9895	TECPR2	HP:0000293	Full cheeks	HP:0040282	ORPHA:320385
9895	TECPR2	HP:0000294	Low anterior hairline	5/5	OMIM:615031
9895	TECPR2	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:320385
9895	TECPR2	HP:0000252	Microcephaly	HP:0040282	ORPHA:320385
9895	TECPR2	HP:0000252	Microcephaly	5/5	OMIM:615031
9895	TECPR2	HP:0000248	Brachycephaly	5/5	OMIM:615031
9895	TECPR2	HP:0000248	Brachycephaly	HP:0040282	ORPHA:320385
9895	TECPR2	HP:0002871	Central apnea	HP:0040283	ORPHA:320385
9895	TECPR2	HP:0002871	Central apnea	5/5	OMIM:615031
9895	TECPR2	HP:0000338	Hypomimic face	HP:0040282	ORPHA:320385
9895	TECPR2	HP:0000338	Hypomimic face	5/5	OMIM:615031
9895	TECPR2	HP:0000311	Round face	5/5	OMIM:615031
9895	TECPR2	HP:0000311	Round face	HP:0040282	ORPHA:320385
9895	TECPR2	HP:0000475	Broad neck	HP:0040282	ORPHA:320385
9895	TECPR2	HP:0000475	Broad neck	5/5	OMIM:615031
9895	TECPR2	HP:0000470	Short neck	5/5	OMIM:615031
9895	TECPR2	HP:0000470	Short neck	HP:0040282	ORPHA:320385
9896	FIG4	HP:0001182	Tapered finger	HP:0040282	ORPHA:3472
9896	FIG4	HP:0001182	Tapered finger	2/2	OMIM:216340
9896	FIG4	HP:0002483	Bulbar signs	6/9	OMIM:612577
9896	FIG4	HP:0001167	Abnormal finger morphology	HP:0040282	ORPHA:3472
9896	FIG4	HP:0002493	Upper motor neuron dysfunction	-	OMIM:612577
9896	FIG4	HP:0001159	Syndactyly	HP:0040282	ORPHA:3472
9896	FIG4	HP:0002463	Language impairment	HP:0040283	ORPHA:803
9896	FIG4	HP:0002460	Distal muscle weakness	-	OMIM:611228
9896	FIG4	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:3472
9896	FIG4	HP:0010862	Delayed fine motor development	HP:0040281	ORPHA:208441
9896	FIG4	HP:0009881	Aplasia of the distal phalanges of the hand	HP:0040281	ORPHA:3472
9896	FIG4	HP:0009882	Short distal phalanx of finger	1/1	OMIM:216340
9896	FIG4	HP:0008551	Microtia	1/2	OMIM:216340
9896	FIG4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9896	FIG4	HP:0001293	Cranial nerve compression	-	OMIM:131300
9896	FIG4	HP:0100817	Renovascular hypertension	HP:0040283	ORPHA:3472
9896	FIG4	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:3472
9896	FIG4	HP:0001274	Agenesis of corpus callosum	-	OMIM:216340
9896	FIG4	HP:0001270	Motor delay	HP:0040283	OMIM:611228
9896	FIG4	HP:0001288	Gait disturbance	-	OMIM:611228
9896	FIG4	HP:0001284	Areflexia	-	OMIM:611228
9896	FIG4	HP:0001250	Seizure	HP:0040282	ORPHA:208441
9896	FIG4	HP:0001252	Hypotonia	14/15	OMIM:216340
9896	FIG4	HP:0001252	Hypotonia	HP:0040283	ORPHA:208441
9896	FIG4	HP:0001252	Hypotonia	2/7	OMIM:615777
9896	FIG4	HP:0001249	Intellectual disability	HP:0040282	ORPHA:208441
9896	FIG4	HP:0001249	Intellectual disability	5/7	OMIM:615777
9896	FIG4	HP:0001265	Hyporeflexia	-	OMIM:611228
9896	FIG4	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
9896	FIG4	HP:0001263	Global developmental delay	1/1	OMIM:216340
9896	FIG4	HP:0001263	Global developmental delay	HP:0040282	ORPHA:3472
9896	FIG4	HP:0001263	Global developmental delay	HP:0040282	ORPHA:208441
9896	FIG4	HP:0001263	Global developmental delay	-	OMIM:615777
9896	FIG4	HP:0001257	Spasticity	HP:0040283	ORPHA:208441
9896	FIG4	HP:0001257	Spasticity	HP:0040282	ORPHA:803
9896	FIG4	HP:0002561	Absent nipple	4/14	OMIM:216340
9896	FIG4	HP:0002557	Hypoplastic nipples	1/1	OMIM:216340
9896	FIG4	HP:0008765	Auditory hallucination	HP:0040283	ORPHA:208441
9896	FIG4	HP:0100852	Abnormal fear-induced behavior	HP:0040283	ORPHA:208441
9896	FIG4	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
9896	FIG4	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
9896	FIG4	HP:0007354	Amyotrophic lateral sclerosis	9/9	OMIM:612577
9896	FIG4	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
9896	FIG4	HP:0007333	Hypoplasia of the frontal lobes	2/2	OMIM:216340
9896	FIG4	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:3472
9896	FIG4	HP:0007334	Bilateral tonic-clonic seizure with focal onset	6/6	OMIM:612691
9896	FIG4	HP:0008665	Clitoral hypertrophy	HP:0040283	ORPHA:3472
9896	FIG4	HP:0002539	Cortical dysplasia	HP:0040281	ORPHA:208441
9896	FIG4	HP:0002515	Waddling gait	54/102	OMIM:131300
9896	FIG4	HP:0002529	Neuronal loss in central nervous system	HP:0040282	ORPHA:3472
9896	FIG4	HP:0003828	Variable expressivity	-	OMIM:611228
9896	FIG4	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
9896	FIG4	HP:0000059	Hypoplastic labia majora	HP:0040283	ORPHA:3472
9896	FIG4	HP:0001374	Congenital hip dislocation	1/2	OMIM:216340
9896	FIG4	HP:0000054	Micropenis	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000054	Micropenis	-	OMIM:216340
9896	FIG4	HP:0001382	Joint hypermobility	-	OMIM:615777
9896	FIG4	HP:0000047	Hypospadias	-	OMIM:216340
9896	FIG4	HP:0000047	Hypospadias	HP:0040282	ORPHA:3472
9896	FIG4	HP:0002683	Abnormal calvaria morphology	19/21	OMIM:216340
9896	FIG4	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:208441
9896	FIG4	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
9896	FIG4	HP:0002696	Abnormal parietal bone morphology	HP:0040282	ORPHA:3472
9896	FIG4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9896	FIG4	HP:0002692	Hypoplastic facial bones	-	OMIM:216340
9896	FIG4	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:3472
9896	FIG4	HP:0000028	Cryptorchidism	-	OMIM:216340
9896	FIG4	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:3472
9896	FIG4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9896	FIG4	HP:0008785	Delayed ossification of pubic rami	1/1	OMIM:216340
9896	FIG4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9896	FIG4	HP:0001324	Muscle weakness	40/96	OMIM:131300
9896	FIG4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9896	FIG4	HP:0000007	Autosomal recessive inheritance	-	OMIM:216340
9896	FIG4	HP:0000007	Autosomal recessive inheritance	-	OMIM:612691
9896	FIG4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9896	FIG4	HP:0000007	Autosomal recessive inheritance	-	OMIM:611228
9896	FIG4	HP:0000006	Autosomal dominant inheritance	-	OMIM:612577
9896	FIG4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9896	FIG4	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
9896	FIG4	HP:0001302	Pachygyria	HP:0040282	ORPHA:3472
9896	FIG4	HP:0001302	Pachygyria	3/10	OMIM:216340
9896	FIG4	HP:0001320	Cerebellar vermis hypoplasia	2/2	OMIM:216340
9896	FIG4	HP:0002650	Scoliosis	12/14	OMIM:131300
9896	FIG4	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:3472
9896	FIG4	HP:0001321	Cerebellar hypoplasia	HP:0040283	OMIM:216340
9896	FIG4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9896	FIG4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9896	FIG4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9896	FIG4	HP:0000187	Broad alveolar ridges	-	OMIM:216340
9896	FIG4	HP:0000188	Short upper lip	20/21	OMIM:216340
9896	FIG4	HP:0000188	Short upper lip	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9896	FIG4	HP:0000162	Glossoptosis	HP:0040283	ORPHA:3472
9896	FIG4	HP:0000175	Cleft palate	2/7	OMIM:615777
9896	FIG4	HP:0000174	Abnormal palate morphology	HP:0040283	ORPHA:208441
9896	FIG4	HP:0025430	High-pitched cry	1/2	OMIM:216340
9896	FIG4	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
9896	FIG4	HP:0006323	Premature loss of primary teeth	-	OMIM:216340
9896	FIG4	HP:0006323	Premature loss of primary teeth	HP:0040282	ORPHA:3472
9896	FIG4	HP:0007633	Bilateral microphthalmos	HP:0040282	ORPHA:3472
9896	FIG4	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
9896	FIG4	HP:0008935	Generalized neonatal hypotonia	HP:0040282	ORPHA:3472
9896	FIG4	HP:0002705	High, narrow palate	HP:0040282	ORPHA:3472
9896	FIG4	HP:0007598	Bilateral single transverse palmar creases	1/2	OMIM:216340
9896	FIG4	HP:0031258	Delirium	HP:0040283	ORPHA:208441
9896	FIG4	HP:0031258	Delirium	2/6	OMIM:612691
9896	FIG4	HP:0002021	Pyloric stenosis	-	OMIM:216340
9896	FIG4	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:3472
9896	FIG4	HP:0005989	Redundant neck skin	14/17	OMIM:216340
9896	FIG4	HP:0005989	Redundant neck skin	HP:0040282	ORPHA:3472
9896	FIG4	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
9896	FIG4	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
9896	FIG4	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
9896	FIG4	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
9896	FIG4	HP:0002092	Pulmonary arterial hypertension	HP:0040282	ORPHA:3472
9896	FIG4	HP:0002092	Pulmonary arterial hypertension	-	OMIM:216340
9896	FIG4	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:208441
9896	FIG4	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
9896	FIG4	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:216340
9896	FIG4	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
9896	FIG4	HP:0003388	Easy fatigability	36/76	OMIM:131300
9896	FIG4	HP:0003383	Onion bulb formation	-	OMIM:611228
9896	FIG4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9896	FIG4	HP:0004611	Anterior concavity of thoracic vertebrae	1/2	OMIM:216340
9896	FIG4	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
9896	FIG4	HP:0003474	Somatic sensory dysfunction	0/9	OMIM:612577
9896	FIG4	HP:0003470	Paralysis	HP:0040282	ORPHA:803
9896	FIG4	HP:0002139	Arrhinencephaly	-	OMIM:216340
9896	FIG4	HP:0002139	Arrhinencephaly	HP:0040282	ORPHA:3472
9896	FIG4	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
9896	FIG4	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
9896	FIG4	HP:0002119	Ventriculomegaly	3/3	OMIM:612691
9896	FIG4	HP:0003447	Axonal loss	-	OMIM:611228
9896	FIG4	HP:0002133	Status epilepticus	2/6	OMIM:612691
9896	FIG4	HP:0002126	Polymicrogyria	3/3	OMIM:612691
9896	FIG4	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:611228
9896	FIG4	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
9896	FIG4	HP:0002194	Delayed gross motor development	HP:0040281	ORPHA:208441
9896	FIG4	HP:0009576	Absent middle phalanx of 2nd finger	1/2	OMIM:216340
9896	FIG4	HP:0009565	Aplasia of the distal phalanx of the 2nd finger	1/2	OMIM:216340
9896	FIG4	HP:0010537	Wide cranial sutures	1/2	OMIM:216340
9896	FIG4	HP:0010537	Wide cranial sutures	HP:0040282	ORPHA:3472
9896	FIG4	HP:0033258	Sudden unexpected death in epilepsy	2/6	OMIM:612691
9896	FIG4	HP:0009536	Short 2nd finger	1/1	OMIM:216340
9896	FIG4	HP:0003593	Infantile onset	1/6	OMIM:612691
9896	FIG4	HP:0003577	Congenital onset	3/3	OMIM:216340
9896	FIG4	HP:0003577	Congenital onset	2/6	OMIM:612691
9896	FIG4	HP:0003581	Adult onset	9/9	OMIM:612577
9896	FIG4	HP:0003561	Birth length less than 3rd percentile	10/22	OMIM:216340
9896	FIG4	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:3472
9896	FIG4	HP:0002209	Sparse scalp hair	26/27	OMIM:216340
9896	FIG4	HP:0008362	Aplasia/Hypoplasia of the hallux	1/1	OMIM:216340
9896	FIG4	HP:0007024	Pseudobulbar paralysis	HP:0040283	ORPHA:208441
9896	FIG4	HP:0011968	Feeding difficulties	2/2	OMIM:216340
9896	FIG4	HP:0011951	Aspiration pneumonia	1/2	OMIM:216340
9896	FIG4	HP:0003510	Severe short stature	7/7	OMIM:615777
9896	FIG4	HP:0008386	Aplasia/Hypoplasia of the nails	22/24	OMIM:216340
9896	FIG4	HP:0008386	Aplasia/Hypoplasia of the nails	HP:0040282	ORPHA:3472
9896	FIG4	HP:0002384	Focal impaired awareness seizure	6/6	OMIM:612691
9896	FIG4	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:208441
9896	FIG4	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
9896	FIG4	HP:0002367	Visual hallucination	HP:0040283	ORPHA:208441
9896	FIG4	HP:0002367	Visual hallucination	6/6	OMIM:612691
9896	FIG4	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
9896	FIG4	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
9896	FIG4	HP:0002359	Frequent falls	-	OMIM:611228
9896	FIG4	HP:0003676	Progressive	-	OMIM:611228
9896	FIG4	HP:0002315	Headache	-	OMIM:131300
9896	FIG4	HP:0004976	Knee dislocation	6/7	OMIM:615777
9896	FIG4	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
9896	FIG4	HP:0004993	Slender long bones with narrow diaphyses	HP:0040283	ORPHA:3472
9896	FIG4	HP:0200021	Down-sloping shoulders	1/2	OMIM:216340
9896	FIG4	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	16/18	OMIM:216340
9896	FIG4	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	19/21	OMIM:216340
9896	FIG4	HP:0009803	Short phalanx of finger	-	OMIM:615777
9896	FIG4	HP:0009777	Absent thumb	12/12	OMIM:216340
9896	FIG4	HP:0009777	Absent thumb	HP:0040282	ORPHA:3472
9896	FIG4	HP:0009778	Short thumb	1/1	OMIM:216340
9896	FIG4	HP:0010743	Short metatarsal	1/2	OMIM:216340
9896	FIG4	HP:0009763	Limb pain	63/92	OMIM:131300
9896	FIG4	HP:0002307	Drooling	HP:0040282	ORPHA:803
9896	FIG4	HP:0003621	Juvenile onset	-	OMIM:131300
9896	FIG4	HP:0003621	Juvenile onset	2/6	OMIM:612691
9896	FIG4	HP:0007182	Peripheral hypomyelination	-	OMIM:611228
9896	FIG4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9896	FIG4	HP:0010067	Aplasia/hypoplasia of the 1st metatarsal	HP:0040282	ORPHA:3472
9896	FIG4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9896	FIG4	HP:6001056	Out-toeing	-	OMIM:131300
9896	FIG4	HP:0000651	Diplopia	-	OMIM:131300
9896	FIG4	HP:0000647	Sclerocornea	-	OMIM:216340
9896	FIG4	HP:0000647	Sclerocornea	HP:0040282	ORPHA:3472
9896	FIG4	HP:0001956	Truncal obesity	2/7	OMIM:615777
9896	FIG4	HP:0001920	Renal artery stenosis	HP:0040283	ORPHA:3472
9896	FIG4	HP:0001903	Anemia	HP:0040283	OMIM:131300
9896	FIG4	HP:0010049	Short metacarpal	-	OMIM:615777
9896	FIG4	HP:0010035	Aplasia of the 1st metacarpal	HP:0040282	ORPHA:3472
9896	FIG4	HP:0011344	Severe global developmental delay	1/1	OMIM:216340
9896	FIG4	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
9896	FIG4	HP:0000678	Dental crowding	-	OMIM:615777
9896	FIG4	HP:0000653	Sparse eyelashes	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000653	Sparse eyelashes	1/2	OMIM:216340
9896	FIG4	HP:0000670	Carious teeth	-	OMIM:131300
9896	FIG4	HP:0011309	Tapered toe	2/2	OMIM:216340
9896	FIG4	HP:0011304	Broad thumb	2/7	OMIM:615777
9896	FIG4	HP:0000668	Hypodontia	-	OMIM:615777
9896	FIG4	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:208441
9896	FIG4	HP:0000664	Synophrys	-	OMIM:615777
9896	FIG4	HP:0004322	Short stature	HP:0040282	ORPHA:3472
9896	FIG4	HP:0004331	Decreased skull ossification	-	OMIM:216340
9896	FIG4	HP:0004331	Decreased skull ossification	HP:0040282	ORPHA:3472
9896	FIG4	HP:0004326	Cachexia	HP:0040283	ORPHA:803
9896	FIG4	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
9896	FIG4	HP:0004396	Poor appetite	-	OMIM:131300
9896	FIG4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9896	FIG4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9896	FIG4	HP:0003015	Flared metaphysis	HP:0040283	ORPHA:3472
9896	FIG4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9896	FIG4	HP:0003026	Short long bone	7/7	OMIM:615777
9896	FIG4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9896	FIG4	HP:0005684	Distal arthrogryposis	-	OMIM:611228
9896	FIG4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9896	FIG4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9896	FIG4	HP:0000762	Decreased nerve conduction velocity	0/9	OMIM:612577
9896	FIG4	HP:0000762	Decreased nerve conduction velocity	-	OMIM:611228
9896	FIG4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9896	FIG4	HP:0012725	Cutaneous syndactyly	1/2	OMIM:216340
9896	FIG4	HP:0000737	Irritability	1/2	OMIM:216340
9896	FIG4	HP:0000739	Anxiety	HP:0040282	ORPHA:803
9896	FIG4	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:208441
9896	FIG4	HP:0000750	Delayed speech and language development	-	OMIM:615777
9896	FIG4	HP:0000716	Depression	HP:0040282	ORPHA:803
9896	FIG4	HP:0000718	Aggressive behavior	3/6	OMIM:612691
9896	FIG4	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:208441
9896	FIG4	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
9896	FIG4	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
9896	FIG4	HP:0000708	Atypical behavior	HP:0040282	ORPHA:208441
9896	FIG4	HP:0011461	Fetal onset	7/7	OMIM:615777
9896	FIG4	HP:0011451	Primary microcephaly	HP:0040282	ORPHA:3472
9896	FIG4	HP:0010102	Aplasia of the distal phalanx of the hallux	HP:0040281	ORPHA:3472
9896	FIG4	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
9896	FIG4	HP:0010107	Short proximal phalanx of hallux	HP:0040281	ORPHA:3472
9896	FIG4	HP:0000774	Narrow chest	2/7	OMIM:615777
9896	FIG4	HP:0000773	Short ribs	HP:0040283	ORPHA:3472
9896	FIG4	HP:0000926	Platyspondyly	1/7	OMIM:615777
9896	FIG4	HP:0003180	Flat acetabular roof	-	OMIM:615777
9896	FIG4	HP:0003180	Flat acetabular roof	1/2	OMIM:216340
9896	FIG4	HP:0004482	Relative macrocephaly	-	OMIM:615777
9896	FIG4	HP:0005793	Shortening of all distal phalanges of the toes	HP:0040282	ORPHA:3472
9896	FIG4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9896	FIG4	HP:0000882	Hypoplastic scapulae	1/1	OMIM:216340
9896	FIG4	HP:0012809	Narrow nasal base	HP:0040283	ORPHA:3472
9896	FIG4	HP:0000822	Hypertension	HP:0040283	ORPHA:3472
9896	FIG4	HP:0000823	Delayed puberty	-	OMIM:131300
9896	FIG4	HP:0000894	Short clavicles	-	OMIM:615777
9896	FIG4	HP:0000894	Short clavicles	1/2	OMIM:216340
9896	FIG4	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
9896	FIG4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9896	FIG4	HP:0003202	Skeletal muscle atrophy	-	OMIM:612577
9896	FIG4	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
9896	FIG4	HP:0030816	Gingival recession	HP:0040283	ORPHA:3472
9896	FIG4	HP:0045075	Sparse eyebrow	HP:0040282	ORPHA:3472
9896	FIG4	HP:0045075	Sparse eyebrow	1/2	OMIM:216340
9896	FIG4	HP:0000972	Palmoplantar hyperkeratosis	1/2	OMIM:216340
9896	FIG4	HP:0000954	Single transverse palmar crease	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000954	Single transverse palmar crease	10/14	OMIM:216340
9896	FIG4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9896	FIG4	HP:0000951	Abnormality of the skin	HP:0040283	ORPHA:208441
9896	FIG4	HP:0005819	Short middle phalanx of finger	HP:0040282	ORPHA:3472
9896	FIG4	HP:0040163	Abnormal pelvis bone morphology	HP:0040282	ORPHA:3472
9896	FIG4	HP:0009381	Short finger	21/23	OMIM:216340
9896	FIG4	HP:0009381	Short finger	HP:0040282	ORPHA:3472
9896	FIG4	HP:0012294	Abnormal occipital bone morphology	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000286	Epicanthus	1/1	OMIM:216340
9896	FIG4	HP:0000286	Epicanthus	1/7	OMIM:615777
9896	FIG4	HP:0000280	Coarse facial features	2/7	OMIM:615777
9896	FIG4	HP:0000256	Macrocephaly	HP:0040283	ORPHA:208441
9896	FIG4	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000268	Dolichocephaly	-	OMIM:216340
9896	FIG4	HP:0006466	Ankle flexion contracture	-	OMIM:611228
9896	FIG4	HP:0002827	Hip dislocation	HP:0040283	ORPHA:3472
9896	FIG4	HP:0002827	Hip dislocation	6/14	OMIM:216340
9896	FIG4	HP:0002827	Hip dislocation	3/7	OMIM:615777
9896	FIG4	HP:0030084	Clinodactyly	1/1	OMIM:216340
9896	FIG4	HP:0002808	Kyphosis	1/1	OMIM:216340
9896	FIG4	HP:0000242	Parietal bossing	1/1	OMIM:216340
9896	FIG4	HP:0000239	Large fontanelles	22/25	OMIM:216340
9896	FIG4	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:3472
9896	FIG4	HP:0000252	Microcephaly	13/25	OMIM:216340
9896	FIG4	HP:0000252	Microcephaly	HP:0040283	ORPHA:208441
9896	FIG4	HP:0000252	Microcephaly	-	OMIM:615777
9896	FIG4	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
9896	FIG4	HP:0000216	Broad secondary alveolar ridge	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000219	Thin upper lip vermilion	1/2	OMIM:216340
9896	FIG4	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
9896	FIG4	HP:0000218	High palate	15/19	OMIM:216340
9896	FIG4	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:3472
9896	FIG4	HP:0001561	Polyhydramnios	-	OMIM:216340
9896	FIG4	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000233	Thin vermilion border	1/1	OMIM:216340
9896	FIG4	HP:0001531	Failure to thrive in infancy	1/2	OMIM:216340
9896	FIG4	HP:0001525	Severe failure to thrive	-	OMIM:216340
9896	FIG4	HP:0001525	Severe failure to thrive	HP:0040282	ORPHA:3472
9896	FIG4	HP:0002857	Genu valgum	-	OMIM:131300
9896	FIG4	HP:0001533	Slender build	-	OMIM:131300
9896	FIG4	HP:0001518	Small for gestational age	10/25	OMIM:216340
9896	FIG4	HP:0001511	Intrauterine growth retardation	-	OMIM:216340
9896	FIG4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9896	FIG4	HP:0001510	Growth delay	1/1	OMIM:216340
9896	FIG4	HP:0007807	Optic nerve compression	-	OMIM:131300
9896	FIG4	HP:0011061	Abnormality of dental structure	HP:0040282	ORPHA:3472
9896	FIG4	HP:0012378	Fatigue	HP:0040282	ORPHA:803
9896	FIG4	HP:0012386	Absent hallux	1/2	OMIM:216340
9896	FIG4	HP:0000385	Small earlobe	-	OMIM:216340
9896	FIG4	HP:0012368	Flat face	7/7	OMIM:615777
9896	FIG4	HP:0000378	Cupped ear	1/2	OMIM:216340
9896	FIG4	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000395	Prominent antihelix	1/2	OMIM:216340
9896	FIG4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9896	FIG4	HP:0002936	Distal sensory impairment	-	OMIM:611228
9896	FIG4	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
9896	FIG4	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
9896	FIG4	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
9896	FIG4	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
9896	FIG4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:3472
9896	FIG4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:208441
9896	FIG4	HP:0000365	Hearing impairment	10/67	OMIM:131300
9896	FIG4	HP:0000369	Low-set ears	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000369	Low-set ears	27/27	OMIM:216340
9896	FIG4	HP:0000343	Long philtrum	1/7	OMIM:615777
9896	FIG4	HP:0011001	Increased bone mineral density	-	OMIM:131300
9896	FIG4	HP:0000348	High forehead	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000347	Micrognathia	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000347	Micrognathia	23/25	OMIM:216340
9896	FIG4	HP:0000316	Hypertelorism	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000316	Hypertelorism	1/2	OMIM:216340
9896	FIG4	HP:0000311	Round face	2/7	OMIM:615777
9896	FIG4	HP:0030148	Heart murmur	1/2	OMIM:216340
9896	FIG4	HP:0000331	Short chin	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000322	Short philtrum	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000322	Short philtrum	9/15	OMIM:216340
9896	FIG4	HP:0001655	Patent foramen ovale	1/2	OMIM:216340
9896	FIG4	HP:0001629	Ventricular septal defect	1/2	OMIM:216340
9896	FIG4	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:3472
9896	FIG4	HP:0001622	Premature birth	-	OMIM:216340
9896	FIG4	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:3472
9896	FIG4	HP:0002970	Genu varum	-	OMIM:615777
9896	FIG4	HP:0001636	Tetralogy of Fallot	HP:0040284	ORPHA:3472
9896	FIG4	HP:0001636	Tetralogy of Fallot	1/1	OMIM:216340
9896	FIG4	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:3472
9896	FIG4	HP:0001638	Cardiomyopathy	-	OMIM:216340
9896	FIG4	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:3472
9896	FIG4	HP:0000303	Mandibular prognathia	-	OMIM:131300
9896	FIG4	HP:0006628	Absent sternal ossification	9/12	OMIM:216340
9896	FIG4	HP:0006628	Absent sternal ossification	HP:0040282	ORPHA:3472
9896	FIG4	HP:0006660	Aplastic clavicle	21/26	OMIM:216340
9896	FIG4	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:216340
9896	FIG4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9896	FIG4	HP:0000486	Strabismus	HP:0040283	ORPHA:208441
9896	FIG4	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
9896	FIG4	HP:0000463	Anteverted nares	16/21	OMIM:216340
9896	FIG4	HP:0000463	Anteverted nares	HP:0040282	ORPHA:3472
9896	FIG4	HP:0001789	Hydrops fetalis	-	OMIM:216340
9896	FIG4	HP:0001789	Hydrops fetalis	HP:0040283	ORPHA:3472
9896	FIG4	HP:0000470	Short neck	1/7	OMIM:615777
9896	FIG4	HP:0001798	Anonychia	1/2	OMIM:216340
9896	FIG4	HP:0001770	Toe syndactyly	-	OMIM:216340
9896	FIG4	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:208441
9896	FIG4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9896	FIG4	HP:0001763	Pes planus	1/7	OMIM:615777
9896	FIG4	HP:0000411	Protruding ear	1/2	OMIM:216340
9896	FIG4	HP:0025709	Intermediate young adult onset	1/6	OMIM:612691
9896	FIG4	HP:0006713	Aplasia/Hypoplasia of the scapulae	HP:0040283	ORPHA:3472
9896	FIG4	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040282	ORPHA:3472
9896	FIG4	HP:0006710	Aplasia/Hypoplasia of the clavicles	HP:0040282	ORPHA:3472
9896	FIG4	HP:0011297	Abnormal digit morphology	HP:0040283	ORPHA:208441
9896	FIG4	HP:0005474	Decreased calvarial ossification	1/2	OMIM:216340
9896	FIG4	HP:0005469	Flat occiput	1/1	OMIM:216340
9896	FIG4	HP:0005461	Craniofacial disproportion	12/15	OMIM:216340
9896	FIG4	HP:0000518	Cataract	-	OMIM:216340
9896	FIG4	HP:0000518	Cataract	HP:0040282	ORPHA:3472
9896	FIG4	HP:0001840	Metatarsus adductus	-	OMIM:615777
9896	FIG4	HP:0001840	Metatarsus adductus	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000520	Proptosis	2/4	OMIM:131300
9896	FIG4	HP:0000520	Proptosis	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000520	Proptosis	17/21	OMIM:216340
9896	FIG4	HP:0000520	Proptosis	7/7	OMIM:615777
9896	FIG4	HP:0001824	Weight loss	HP:0040282	ORPHA:803
9896	FIG4	HP:0001838	Rocker bottom foot	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000505	Visual impairment	HP:0040283	ORPHA:208441
9896	FIG4	HP:0001831	Short toe	25/26	OMIM:216340
9896	FIG4	HP:0001831	Short toe	HP:0040282	ORPHA:3472
9896	FIG4	HP:0001817	Absent fingernail	1/2	OMIM:216340
9896	FIG4	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:216340
9896	FIG4	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:3472
9896	FIG4	HP:0000592	Blue sclerae	2/7	OMIM:615777
9896	FIG4	HP:0000568	Microphthalmia	HP:0040283	ORPHA:3472
9896	FIG4	HP:0001871	Abnormality of blood and blood-forming tissues	-	OMIM:216340
9896	FIG4	HP:0012531	Pain	HP:0040282	ORPHA:803
9896	FIG4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9896	FIG4	HP:0012514	Lower limb pain	4/4	OMIM:131300
9897	WASHC5	HP:0001156	Brachydactyly	HP:0040283	ORPHA:7
9897	WASHC5	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:7
9897	WASHC5	HP:0001159	Syndactyly	-	OMIM:220210
9897	WASHC5	HP:0001195	Single umbilical artery	-	OMIM:220210
9897	WASHC5	HP:0001195	Single umbilical artery	HP:0040283	ORPHA:7
9897	WASHC5	HP:0002406	Limb dysmetria	HP:0040282	ORPHA:100989
9897	WASHC5	HP:0007291	Posterior fossa cyst	-	OMIM:220210
9897	WASHC5	HP:0001290	Generalized hypotonia	-	OMIM:220210
9897	WASHC5	HP:0001288	Gait disturbance	HP:0040281	ORPHA:100989
9897	WASHC5	HP:0001252	Hypotonia	HP:0040281	ORPHA:7
9897	WASHC5	HP:0001252	Hypotonia	-	OMIM:220210
9897	WASHC5	HP:0001249	Intellectual disability	HP:0040281	ORPHA:7
9897	WASHC5	HP:0001260	Dysarthria	0/10	OMIM:603563
9897	WASHC5	HP:0001263	Global developmental delay	HP:0040281	ORPHA:7
9897	WASHC5	HP:0001263	Global developmental delay	-	OMIM:220210
9897	WASHC5	HP:0001258	Spastic paraplegia	10/10	OMIM:603563
9897	WASHC5	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:7
9897	WASHC5	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:7
9897	WASHC5	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:7
9897	WASHC5	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:7
9897	WASHC5	HP:0007350	Upper limb hyperreflexia	8/10	OMIM:603563
9897	WASHC5	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:100989
9897	WASHC5	HP:0007340	Lower limb muscle weakness	8/10	OMIM:603563
9897	WASHC5	HP:0000047	Hypospadias	HP:0040283	ORPHA:7
9897	WASHC5	HP:0000047	Hypospadias	-	OMIM:220210
9897	WASHC5	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:7
9897	WASHC5	HP:0000020	Urinary incontinence	HP:0040282	ORPHA:100989
9897	WASHC5	HP:0000020	Urinary incontinence	-	OMIM:603563
9897	WASHC5	HP:0001347	Hyperreflexia	-	OMIM:603563
9897	WASHC5	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:100989
9897	WASHC5	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:7
9897	WASHC5	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:7
9897	WASHC5	HP:0000012	Urinary urgency	8/10	OMIM:603563
9897	WASHC5	HP:0000012	Urinary urgency	HP:0040282	ORPHA:100989
9897	WASHC5	HP:0000007	Autosomal recessive inheritance	-	OMIM:220210
9897	WASHC5	HP:0000006	Autosomal dominant inheritance	-	OMIM:603563
9897	WASHC5	HP:0001305	Dandy-Walker malformation	-	OMIM:220210
9897	WASHC5	HP:0001305	Dandy-Walker malformation	HP:0040281	ORPHA:7
9897	WASHC5	HP:0002650	Scoliosis	HP:0040282	ORPHA:7
9897	WASHC5	HP:0000175	Cleft palate	HP:0040282	ORPHA:7
9897	WASHC5	HP:0000175	Cleft palate	-	OMIM:220210
9897	WASHC5	HP:0002705	High, narrow palate	HP:0040282	ORPHA:7
9897	WASHC5	HP:0000126	Hydronephrosis	-	OMIM:220210
9897	WASHC5	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:7
9897	WASHC5	HP:0002023	Anal atresia	-	OMIM:220210
9897	WASHC5	HP:0002023	Anal atresia	HP:0040283	ORPHA:7
9897	WASHC5	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:7
9897	WASHC5	HP:0002015	Dysphagia	4/10	OMIM:603563
9897	WASHC5	HP:0002007	Frontal bossing	HP:0040281	ORPHA:7
9897	WASHC5	HP:0100561	Spinal cord lesion	HP:0040282	ORPHA:100989
9897	WASHC5	HP:0003394	Muscle spasm	HP:0040282	ORPHA:100989
9897	WASHC5	HP:0002064	Spastic gait	HP:0040282	ORPHA:100989
9897	WASHC5	HP:0002064	Spastic gait	-	OMIM:603563
9897	WASHC5	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:100989
9897	WASHC5	HP:0002061	Lower limb spasticity	10/10	OMIM:603563
9897	WASHC5	HP:0002070	Limb ataxia	HP:0040282	ORPHA:100989
9897	WASHC5	HP:0003487	Babinski sign	10/10	OMIM:603563
9897	WASHC5	HP:0003487	Babinski sign	HP:0040281	ORPHA:100989
9897	WASHC5	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:7
9897	WASHC5	HP:0003457	EMG abnormality	-	ORPHA:100989
9897	WASHC5	HP:0003419	Low back pain	4/10	OMIM:603563
9897	WASHC5	HP:0002169	Clonus	HP:0040283	ORPHA:100989
9897	WASHC5	HP:0002166	Impaired vibration sensation in the lower limbs	10/10	OMIM:603563
9897	WASHC5	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:100989
9897	WASHC5	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:7
9897	WASHC5	HP:0002162	Low posterior hairline	-	OMIM:220210
9897	WASHC5	HP:0003596	Middle age onset	3/10	OMIM:603563
9897	WASHC5	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:7
9897	WASHC5	HP:0003587	Insidious onset	-	OMIM:603563
9897	WASHC5	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:7
9897	WASHC5	HP:0007020	Progressive spastic paraplegia	HP:0040281	ORPHA:100989
9897	WASHC5	HP:0002395	Lower limb hyperreflexia	10/10	OMIM:603563
9897	WASHC5	HP:0003676	Progressive	-	OMIM:603563
9897	WASHC5	HP:0002314	Degeneration of the lateral corticospinal tracts	-	OMIM:603563
9897	WASHC5	HP:0002314	Degeneration of the lateral corticospinal tracts	HP:0040281	ORPHA:100989
9897	WASHC5	HP:0000648	Optic atrophy	HP:0040283	ORPHA:7
9897	WASHC5	HP:0000612	Iris coloboma	HP:0040283	ORPHA:7
9897	WASHC5	HP:0009049	Peroneal muscle atrophy	HP:0040282	ORPHA:100989
9897	WASHC5	HP:0004322	Short stature	HP:0040282	ORPHA:7
9897	WASHC5	HP:0006986	Upper limb spasticity	HP:0040283	OMIM:603563
9897	WASHC5	HP:0006986	Upper limb spasticity	HP:0040283	ORPHA:100989
9897	WASHC5	HP:0004383	Hypoplastic left heart	-	OMIM:220210
9897	WASHC5	HP:0004383	Hypoplastic left heart	HP:0040282	ORPHA:7
9897	WASHC5	HP:0004397	Ectopic anus	HP:0040283	ORPHA:7
9897	WASHC5	HP:0011462	Young adult onset	7/10	OMIM:603563
9897	WASHC5	HP:0003196	Short nose	HP:0040282	ORPHA:7
9897	WASHC5	HP:0000921	Missing ribs	-	OMIM:220210
9897	WASHC5	HP:0000921	Missing ribs	HP:0040283	ORPHA:7
9897	WASHC5	HP:0000835	Adrenal hypoplasia	-	OMIM:220210
9897	WASHC5	HP:0000835	Adrenal hypoplasia	HP:0040283	ORPHA:7
9897	WASHC5	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:220210
9897	WASHC5	HP:0012898	Abnormal lower-limb motor evoked potentials	-	ORPHA:100989
9897	WASHC5	HP:0003272	Abnormal hip bone morphology	HP:0040283	ORPHA:7
9897	WASHC5	HP:0000256	Macrocephaly	HP:0040282	ORPHA:7
9897	WASHC5	HP:0000269	Prominent occiput	-	OMIM:220210
9897	WASHC5	HP:0000269	Prominent occiput	HP:0040282	ORPHA:7
9897	WASHC5	HP:0002808	Kyphosis	HP:0040282	ORPHA:7
9897	WASHC5	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:7
9897	WASHC5	HP:0000238	Hydrocephalus	-	OMIM:220210
9897	WASHC5	HP:0000235	Abnormal cranial suture/fontanelle morphology	HP:0040281	ORPHA:7
9897	WASHC5	HP:0000248	Brachycephaly	-	OMIM:220210
9897	WASHC5	HP:0001522	Death in infancy	HP:0040282	ORPHA:7
9897	WASHC5	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:7
9897	WASHC5	HP:0002839	Urinary bladder sphincter dysfunction	-	OMIM:603563
9897	WASHC5	HP:0001511	Intrauterine growth retardation	-	OMIM:220210
9897	WASHC5	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:7
9897	WASHC5	HP:0002937	Hemivertebrae	-	OMIM:220210
9897	WASHC5	HP:0002937	Hemivertebrae	HP:0040283	ORPHA:7
9897	WASHC5	HP:0002921	Abnormal cerebrospinal fluid morphology	-	ORPHA:100989
9897	WASHC5	HP:0000369	Low-set ears	HP:0040282	ORPHA:7
9897	WASHC5	HP:0000369	Low-set ears	-	OMIM:220210
9897	WASHC5	HP:0000337	Broad forehead	20/20	OMIM:220210
9897	WASHC5	HP:0000348	High forehead	-	OMIM:220210
9897	WASHC5	HP:0000347	Micrognathia	HP:0040283	ORPHA:7
9897	WASHC5	HP:0000347	Micrognathia	-	OMIM:220210
9897	WASHC5	HP:0001650	Aortic valve stenosis	-	OMIM:220210
9897	WASHC5	HP:0001650	Aortic valve stenosis	HP:0040282	ORPHA:7
9897	WASHC5	HP:0000316	Hypertelorism	HP:0040281	ORPHA:7
9897	WASHC5	HP:0000316	Hypertelorism	-	OMIM:220210
9897	WASHC5	HP:0001642	Pulmonic stenosis	-	OMIM:220210
9897	WASHC5	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:7
9897	WASHC5	HP:0000329	Facial hemangioma	HP:0040283	ORPHA:7
9897	WASHC5	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:7
9897	WASHC5	HP:0001629	Ventricular septal defect	-	OMIM:220210
9897	WASHC5	HP:0001636	Tetralogy of Fallot	-	OMIM:220210
9897	WASHC5	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:7
9897	WASHC5	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:7
9897	WASHC5	HP:0001631	Atrial septal defect	-	OMIM:220210
9897	WASHC5	HP:0001633	Abnormal mitral valve morphology	HP:0040282	ORPHA:7
9897	WASHC5	HP:0006695	Atrioventricular canal defect	HP:0040282	ORPHA:7
9897	WASHC5	HP:0001702	Abnormal tricuspid valve morphology	HP:0040282	ORPHA:7
9897	WASHC5	HP:0001719	Double outlet right ventricle	-	OMIM:220210
9897	WASHC5	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:7
9897	WASHC5	HP:0005280	Depressed nasal bridge	-	OMIM:220210
9897	WASHC5	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:7
9897	WASHC5	HP:0000494	Downslanted palpebral fissures	-	OMIM:220210
9897	WASHC5	HP:0000470	Short neck	HP:0040283	ORPHA:7
9897	WASHC5	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:7
9897	WASHC5	HP:0001761	Pes cavus	1/10	OMIM:603563
9897	WASHC5	HP:0001761	Pes cavus	HP:0040282	ORPHA:100989
9897	WASHC5	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040283	ORPHA:7
9897	WASHC5	HP:0000501	Glaucoma	HP:0040283	ORPHA:7
9897	WASHC5	HP:0001804	Hypoplastic fingernail	HP:0040283	ORPHA:7
9897	WASHC5	HP:0000589	Coloboma	-	OMIM:220210
9897	WASHC5	HP:0000567	Chorioretinal coloboma	HP:0040283	ORPHA:7
9898	UBAP2L	HP:0009901	Crumpled ear	2/2	OMIM:620494
9898	UBAP2L	HP:0001156	Brachydactyly	2/2	OMIM:620494
9898	UBAP2L	HP:0008551	Microtia	2/2	OMIM:620494
9898	UBAP2L	HP:0025268	Stuttering	2/2	OMIM:620494
9898	UBAP2L	HP:0001270	Motor delay	6/6	OMIM:620494
9898	UBAP2L	HP:0001250	Seizure	6/20	OMIM:620494
9898	UBAP2L	HP:0001252	Hypotonia	8/16	OMIM:620494
9898	UBAP2L	HP:0001249	Intellectual disability	16/20	OMIM:620494
9898	UBAP2L	HP:0001265	Hyporeflexia	2/2	OMIM:620494
9898	UBAP2L	HP:0001263	Global developmental delay	12/16	OMIM:620494
9898	UBAP2L	HP:0012048	Oromandibular dystonia	2/2	OMIM:620494
9898	UBAP2L	HP:0001387	Joint stiffness	2/2	OMIM:620494
9898	UBAP2L	HP:0000010	Recurrent urinary tract infections	2/2	OMIM:620494
9898	UBAP2L	HP:0001337	Tremor	2/2	OMIM:620494
9898	UBAP2L	HP:0000006	Autosomal dominant inheritance	-	OMIM:620494
9898	UBAP2L	HP:0002751	Kyphoscoliosis	2/2	OMIM:620494
9898	UBAP2L	HP:0002099	Asthma	2/2	OMIM:620494
9898	UBAP2L	HP:0003393	Thenar muscle atrophy	2/2	OMIM:620494
9898	UBAP2L	HP:0010535	Sleep apnea	2/2	OMIM:620494
9898	UBAP2L	HP:0010529	Echolalia	2/2	OMIM:620494
9898	UBAP2L	HP:0002236	Frontal upsweep of hair	2/2	OMIM:620494
9898	UBAP2L	HP:0100716	Self-injurious behavior	6/18	OMIM:620494
9898	UBAP2L	HP:0034681	Finger joint contracture	2/2	OMIM:620494
9898	UBAP2L	HP:0007018	Attention deficit hyperactivity disorder	6/18	OMIM:620494
9898	UBAP2L	HP:0011968	Feeding difficulties	16/22	OMIM:620494
9898	UBAP2L	HP:0009656	Symphalangism of the thumb	2/2	OMIM:620494
9898	UBAP2L	HP:0002376	Developmental regression	2/20	OMIM:620494
9898	UBAP2L	HP:0002329	Drowsiness	2/2	OMIM:620494
9898	UBAP2L	HP:0010780	Hyperacusis	2/2	OMIM:620494
9898	UBAP2L	HP:0010747	Medial flaring of the eyebrow	2/2	OMIM:620494
9898	UBAP2L	HP:0003621	Juvenile onset	14/24	OMIM:620494
9898	UBAP2L	HP:0000639	Nystagmus	2/2	OMIM:620494
9898	UBAP2L	HP:0010055	Broad hallux	2/2	OMIM:620494
9898	UBAP2L	HP:0011330	Metopic synostosis	2/2	OMIM:620494
9898	UBAP2L	HP:0000664	Synophrys	4/4	OMIM:620494
9898	UBAP2L	HP:0004322	Short stature	6/18	OMIM:620494
9898	UBAP2L	HP:0000739	Anxiety	6/18	OMIM:620494
9898	UBAP2L	HP:0000733	Motor stereotypy	6/18	OMIM:620494
9898	UBAP2L	HP:0000750	Delayed speech and language development	20/20	OMIM:620494
9898	UBAP2L	HP:0000718	Aggressive behavior	6/18	OMIM:620494
9898	UBAP2L	HP:0000729	Autistic behavior	6/10	OMIM:620494
9898	UBAP2L	HP:0000722	Compulsive behaviors	6/18	OMIM:620494
9898	UBAP2L	HP:0011463	Childhood onset	10/24	OMIM:620494
9898	UBAP2L	HP:0004469	Chronic bronchitis	2/2	OMIM:620494
9898	UBAP2L	HP:0003097	Short femur	2/2	OMIM:620494
9898	UBAP2L	HP:0000957	Cafe-au-lait spot	2/2	OMIM:620494
9898	UBAP2L	HP:0000965	Cutis marmorata	2/2	OMIM:620494
9898	UBAP2L	HP:0045025	Narrow palpebral fissure	2/2	OMIM:620494
9898	UBAP2L	HP:0000286	Epicanthus	2/2	OMIM:620494
9898	UBAP2L	HP:0000294	Low anterior hairline	2/2	OMIM:620494
9898	UBAP2L	HP:0000276	Long face	2/2	OMIM:620494
9898	UBAP2L	HP:0030084	Clinodactyly	2/2	OMIM:620494
9898	UBAP2L	HP:0000219	Thin upper lip vermilion	4/4	OMIM:620494
9898	UBAP2L	HP:0000218	High palate	2/2	OMIM:620494
9898	UBAP2L	HP:0000232	Everted lower lip vermilion	2/2	OMIM:620494
9898	UBAP2L	HP:0001508	Failure to thrive	8/16	OMIM:620494
9898	UBAP2L	HP:0001511	Intrauterine growth retardation	4/4	OMIM:620494
9898	UBAP2L	HP:0012368	Flat face	2/2	OMIM:620494
9898	UBAP2L	HP:0000378	Cupped ear	2/2	OMIM:620494
9898	UBAP2L	HP:0000365	Hearing impairment	0/16	OMIM:620494
9898	UBAP2L	HP:0000358	Posteriorly rotated ears	2/2	OMIM:620494
9898	UBAP2L	HP:0000343	Long philtrum	2/2	OMIM:620494
9898	UBAP2L	HP:0000337	Broad forehead	6/6	OMIM:620494
9898	UBAP2L	HP:0000316	Hypertelorism	6/6	OMIM:620494
9898	UBAP2L	HP:0000311	Round face	2/2	OMIM:620494
9898	UBAP2L	HP:0001623	Breech presentation	2/2	OMIM:620494
9898	UBAP2L	HP:0000303	Mandibular prognathia	2/2	OMIM:620494
9898	UBAP2L	HP:0000483	Astigmatism	2/2	OMIM:620494
9898	UBAP2L	HP:0000490	Deeply set eye	2/2	OMIM:620494
9898	UBAP2L	HP:0001792	Small nail	2/2	OMIM:620494
9898	UBAP2L	HP:0012427	Increased femoral anteversion	2/2	OMIM:620494
9898	UBAP2L	HP:0000437	Depressed nasal tip	2/2	OMIM:620494
9898	UBAP2L	HP:0001763	Pes planus	2/2	OMIM:620494
9898	UBAP2L	HP:0000414	Bulbous nose	2/2	OMIM:620494
9898	UBAP2L	HP:0000431	Wide nasal bridge	4/4	OMIM:620494
9898	UBAP2L	HP:0025700	Anhydramnios	2/2	OMIM:620494
9898	UBAP2L	HP:0001840	Metatarsus adductus	2/2	OMIM:620494
9898	UBAP2L	HP:0000505	Visual impairment	2/10	OMIM:620494
9898	UBAP2L	HP:0001831	Short toe	2/2	OMIM:620494
9898	UBAP2L	HP:0001800	Hypoplastic toenails	2/2	OMIM:620494
9898	UBAP2L	HP:0000582	Upslanted palpebral fissure	2/2	OMIM:620494
9898	UBAP2L	HP:0000577	Exotropia	2/2	OMIM:620494
9898	UBAP2L	HP:0000565	Esotropia	2/2	OMIM:620494
9898	UBAP2L	HP:0000540	Hypermetropia	2/2	OMIM:620494
9898	UBAP2L	HP:0000545	Myopia	2/2	OMIM:620494
9900	SV2A	HP:0010851	EEG with burst suppression	1/2	OMIM:620772
9900	SV2A	HP:0001252	Hypotonia	2/2	OMIM:620772
9900	SV2A	HP:0001263	Global developmental delay	2/2	OMIM:620772
9900	SV2A	HP:0002553	Highly arched eyebrow	1/2	OMIM:620772
9900	SV2A	HP:0025373	Interictal EEG abnormality	1/1	OMIM:620772
9900	SV2A	HP:0008897	Postnatal growth retardation	2/2	OMIM:620772
9900	SV2A	HP:0033725	Thin corpus callosum	2/2	OMIM:620772
9900	SV2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:620772
9900	SV2A	HP:0002020	Gastroesophageal reflux	1/2	OMIM:620772
9900	SV2A	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:620772
9900	SV2A	HP:0002119	Ventriculomegaly	2/2	OMIM:620772
9900	SV2A	HP:0002179	Opisthotonus	1/2	OMIM:620772
9900	SV2A	HP:0003593	Infantile onset	2/2	OMIM:620772
9900	SV2A	HP:0100704	Cerebral visual impairment	1/2	OMIM:620772
9900	SV2A	HP:0002376	Developmental regression	1/1	OMIM:620772
9900	SV2A	HP:0000648	Optic atrophy	2/2	OMIM:620772
9900	SV2A	HP:0000768	Pectus carinatum	1/2	OMIM:620772
9900	SV2A	HP:0012707	Elevated brain lactate level by MRS	1/1	OMIM:620772
9900	SV2A	HP:0012708	Reduced brain N-acetyl aspartate level by MRS	1/1	OMIM:620772
9900	SV2A	HP:0011448	Ankle clonus	1/2	OMIM:620772
9900	SV2A	HP:0000252	Microcephaly	2/2	OMIM:620772
9900	SV2A	HP:0001562	Oligohydramnios	1/2	OMIM:620772
9900	SV2A	HP:0001508	Failure to thrive	2/2	OMIM:620772
9900	SV2A	HP:0001511	Intrauterine growth retardation	1/2	OMIM:620772
9900	SV2A	HP:0032792	Tonic seizure	2/2	OMIM:620772
9900	SV2A	HP:0032794	Myoclonic seizure	1/2	OMIM:620772
9907	AP5Z1	HP:0001268	Mental deterioration	-	OMIM:613647
9907	AP5Z1	HP:0001256	Intellectual disability, mild	1/2	OMIM:613647
9907	AP5Z1	HP:0001251	Ataxia	-	OMIM:613647
9907	AP5Z1	HP:0001251	Ataxia	HP:0040282	ORPHA:306511
9907	AP5Z1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:306511
9907	AP5Z1	HP:0001249	Intellectual disability	-	OMIM:613647
9907	AP5Z1	HP:0001263	Global developmental delay	1/2	OMIM:613647
9907	AP5Z1	HP:0001258	Spastic paraplegia	2/2	OMIM:613647
9907	AP5Z1	HP:0007340	Lower limb muscle weakness	-	OMIM:613647
9907	AP5Z1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:306511
9907	AP5Z1	HP:0000020	Urinary incontinence	1/2	OMIM:613647
9907	AP5Z1	HP:0000020	Urinary incontinence	HP:0040282	ORPHA:306511
9907	AP5Z1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:306511
9907	AP5Z1	HP:0033725	Thin corpus callosum	2/2	OMIM:613647
9907	AP5Z1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613647
9907	AP5Z1	HP:0001336	Myoclonus	HP:0040282	ORPHA:306511
9907	AP5Z1	HP:0001310	Dysmetria	1/2	OMIM:613647
9907	AP5Z1	HP:0001300	Parkinsonism	-	OMIM:613647
9907	AP5Z1	HP:0001300	Parkinsonism	HP:0040283	ORPHA:306511
9907	AP5Z1	HP:0003319	Abnormality of the cervical spine	HP:0040282	ORPHA:306511
9907	AP5Z1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:306511
9907	AP5Z1	HP:0002064	Spastic gait	-	OMIM:613647
9907	AP5Z1	HP:0002064	Spastic gait	HP:0040282	ORPHA:306511
9907	AP5Z1	HP:0002061	Lower limb spasticity	-	OMIM:613647
9907	AP5Z1	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:306511
9907	AP5Z1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:613647
9907	AP5Z1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040281	ORPHA:306511
9907	AP5Z1	HP:0002136	Broad-based gait	1/2	OMIM:613647
9907	AP5Z1	HP:0002136	Broad-based gait	HP:0040283	ORPHA:306511
9907	AP5Z1	HP:0003596	Middle age onset	1/2	OMIM:613647
9907	AP5Z1	HP:0003593	Infantile onset	1/2	OMIM:613647
9907	AP5Z1	HP:0007020	Progressive spastic paraplegia	HP:0040281	ORPHA:306511
9907	AP5Z1	HP:0003676	Progressive	-	OMIM:613647
9907	AP5Z1	HP:0002313	Spastic paraparesis	1/2	OMIM:613647
9907	AP5Z1	HP:0009830	Peripheral neuropathy	-	OMIM:613647
9907	AP5Z1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:306511
9907	AP5Z1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:306511
9907	AP5Z1	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040282	ORPHA:306511
9907	AP5Z1	HP:0030890	Hyperintensity of cerebral white matter on MRI	1/2	OMIM:613647
9907	AP5Z1	HP:0030891	Periventricular white matter hyperintensities	1/2	OMIM:613647
9907	AP5Z1	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040282	ORPHA:306511
9907	AP5Z1	HP:0030051	Tip-toe gait	1/2	OMIM:613647
9907	AP5Z1	HP:0000488	Retinopathy	HP:0040283	ORPHA:306511
9907	AP5Z1	HP:0000488	Retinopathy	-	OMIM:613647
9915	ARNT2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:3157
9915	ARNT2	HP:0001250	Seizure	HP:0040282	ORPHA:3157
9915	ARNT2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3157
9915	ARNT2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:3157
9915	ARNT2	HP:0001257	Spasticity	6/6	OMIM:615926
9915	ARNT2	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:3157
9915	ARNT2	HP:0100842	Septo-optic dysplasia	HP:0040281	ORPHA:3157
9915	ARNT2	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:3157
9915	ARNT2	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:3157
9915	ARNT2	HP:0000076	Vesicoureteral reflux	6/6	OMIM:615926
9915	ARNT2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3157
9915	ARNT2	HP:0000028	Cryptorchidism	1/1	OMIM:615926
9915	ARNT2	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:3157
9915	ARNT2	HP:0000011	Neurogenic bladder	6/6	OMIM:615926
9915	ARNT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615926
9915	ARNT2	HP:0000175	Cleft palate	HP:0040282	ORPHA:3157
9915	ARNT2	HP:0000126	Hydronephrosis	6/6	OMIM:615926
9915	ARNT2	HP:0002020	Gastroesophageal reflux	6/6	OMIM:615926
9915	ARNT2	HP:0002019	Constipation	HP:0040283	ORPHA:3157
9915	ARNT2	HP:0002032	Esophageal atresia	HP:0040283	ORPHA:3157
9915	ARNT2	HP:0002002	Deep philtrum	6/6	OMIM:615926
9915	ARNT2	HP:0002069	Bilateral tonic-clonic seizure	6/6	OMIM:615926
9915	ARNT2	HP:0002079	Hypoplasia of the corpus callosum	6/6	OMIM:615926
9915	ARNT2	HP:0011748	Adrenocorticotropic hormone deficiency	4/5	OMIM:615926
9915	ARNT2	HP:0002188	Delayed CNS myelination	6/6	OMIM:615926
9915	ARNT2	HP:0008245	Pituitary hypothyroidism	-	OMIM:615926
9915	ARNT2	HP:0010627	Anterior pituitary hypoplasia	6/6	OMIM:615926
9915	ARNT2	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:3157
9915	ARNT2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:3157
9915	ARNT2	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:3157
9915	ARNT2	HP:0003623	Neonatal onset	6/6	OMIM:615926
9915	ARNT2	HP:0000639	Nystagmus	HP:0040282	ORPHA:3157
9915	ARNT2	HP:0000618	Blindness	6/6	OMIM:615926
9915	ARNT2	HP:0001959	Polydipsia	HP:0040283	ORPHA:3157
9915	ARNT2	HP:0000609	Optic nerve hypoplasia	HP:0040281	ORPHA:3157
9915	ARNT2	HP:0011344	Severe global developmental delay	6/6	OMIM:615926
9915	ARNT2	HP:0004322	Short stature	HP:0040282	ORPHA:3157
9915	ARNT2	HP:0004322	Short stature	3/5	OMIM:615926
9915	ARNT2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:3157
9915	ARNT2	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:3157
9915	ARNT2	HP:0000717	Autism	HP:0040283	ORPHA:3157
9915	ARNT2	HP:0003158	Hyposthenuria	5/5	OMIM:615926
9915	ARNT2	HP:0000873	Diabetes insipidus	6/6	OMIM:615926
9915	ARNT2	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:3157
9915	ARNT2	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040282	ORPHA:3157
9915	ARNT2	HP:0000824	Decreased response to growth hormone stimulation test	2/2	OMIM:615926
9915	ARNT2	HP:0003228	Hypernatremia	6/6	OMIM:615926
9915	ARNT2	HP:0000958	Dry skin	HP:0040283	ORPHA:3157
9915	ARNT2	HP:0000966	Hypohidrosis	HP:0040283	ORPHA:3157
9915	ARNT2	HP:0000278	Retrognathia	6/6	OMIM:615926
9915	ARNT2	HP:0002827	Hip dislocation	6/6	OMIM:615926
9915	ARNT2	HP:0001513	Obesity	4/6	OMIM:615926
9915	ARNT2	HP:0001513	Obesity	HP:0040283	ORPHA:3157
9915	ARNT2	HP:0012378	Fatigue	HP:0040283	ORPHA:3157
9915	ARNT2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:3157
9915	ARNT2	HP:0000486	Strabismus	HP:0040282	ORPHA:3157
9915	ARNT2	HP:0000490	Deeply set eye	6/6	OMIM:615926
9915	ARNT2	HP:0000458	Anosmia	HP:0040283	ORPHA:3157
9915	ARNT2	HP:0005484	Secondary microcephaly	6/6	OMIM:615926
9915	ARNT2	HP:0000505	Visual impairment	HP:0040281	ORPHA:3157
9915	ARNT2	HP:0011220	Prominent forehead	6/6	OMIM:615926
9917	FAM20B	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9917	FAM20B	HP:0001293	Cranial nerve compression	-	OMIM:131300
9917	FAM20B	HP:0001252	Hypotonia	2/7	OMIM:615777
9917	FAM20B	HP:0001249	Intellectual disability	5/7	OMIM:615777
9917	FAM20B	HP:0001263	Global developmental delay	-	OMIM:615777
9917	FAM20B	HP:0002515	Waddling gait	54/102	OMIM:131300
9917	FAM20B	HP:0001382	Joint hypermobility	-	OMIM:615777
9917	FAM20B	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9917	FAM20B	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9917	FAM20B	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9917	FAM20B	HP:0001324	Muscle weakness	40/96	OMIM:131300
9917	FAM20B	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9917	FAM20B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9917	FAM20B	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9917	FAM20B	HP:0002650	Scoliosis	12/14	OMIM:131300
9917	FAM20B	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9917	FAM20B	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9917	FAM20B	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9917	FAM20B	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9917	FAM20B	HP:0000175	Cleft palate	2/7	OMIM:615777
9917	FAM20B	HP:0003388	Easy fatigability	36/76	OMIM:131300
9917	FAM20B	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9917	FAM20B	HP:0003510	Severe short stature	7/7	OMIM:615777
9917	FAM20B	HP:0002315	Headache	-	OMIM:131300
9917	FAM20B	HP:0004976	Knee dislocation	6/7	OMIM:615777
9917	FAM20B	HP:0009803	Short phalanx of finger	-	OMIM:615777
9917	FAM20B	HP:0009763	Limb pain	63/92	OMIM:131300
9917	FAM20B	HP:0003621	Juvenile onset	-	OMIM:131300
9917	FAM20B	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9917	FAM20B	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9917	FAM20B	HP:6001056	Out-toeing	-	OMIM:131300
9917	FAM20B	HP:0000651	Diplopia	-	OMIM:131300
9917	FAM20B	HP:0001956	Truncal obesity	2/7	OMIM:615777
9917	FAM20B	HP:0001903	Anemia	HP:0040283	OMIM:131300
9917	FAM20B	HP:0010049	Short metacarpal	-	OMIM:615777
9917	FAM20B	HP:0000678	Dental crowding	-	OMIM:615777
9917	FAM20B	HP:0000670	Carious teeth	-	OMIM:131300
9917	FAM20B	HP:0011304	Broad thumb	2/7	OMIM:615777
9917	FAM20B	HP:0000668	Hypodontia	-	OMIM:615777
9917	FAM20B	HP:0000664	Synophrys	-	OMIM:615777
9917	FAM20B	HP:0004396	Poor appetite	-	OMIM:131300
9917	FAM20B	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9917	FAM20B	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9917	FAM20B	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9917	FAM20B	HP:0003026	Short long bone	7/7	OMIM:615777
9917	FAM20B	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9917	FAM20B	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9917	FAM20B	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9917	FAM20B	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9917	FAM20B	HP:0000750	Delayed speech and language development	-	OMIM:615777
9917	FAM20B	HP:0011461	Fetal onset	7/7	OMIM:615777
9917	FAM20B	HP:0000774	Narrow chest	2/7	OMIM:615777
9917	FAM20B	HP:0000926	Platyspondyly	1/7	OMIM:615777
9917	FAM20B	HP:0003180	Flat acetabular roof	-	OMIM:615777
9917	FAM20B	HP:0004482	Relative macrocephaly	-	OMIM:615777
9917	FAM20B	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9917	FAM20B	HP:0000823	Delayed puberty	-	OMIM:131300
9917	FAM20B	HP:0000894	Short clavicles	-	OMIM:615777
9917	FAM20B	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9917	FAM20B	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9917	FAM20B	HP:0000286	Epicanthus	1/7	OMIM:615777
9917	FAM20B	HP:0000280	Coarse facial features	2/7	OMIM:615777
9917	FAM20B	HP:0002827	Hip dislocation	3/7	OMIM:615777
9917	FAM20B	HP:0000252	Microcephaly	-	OMIM:615777
9917	FAM20B	HP:0002857	Genu valgum	-	OMIM:131300
9917	FAM20B	HP:0001533	Slender build	-	OMIM:131300
9917	FAM20B	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9917	FAM20B	HP:0007807	Optic nerve compression	-	OMIM:131300
9917	FAM20B	HP:0012368	Flat face	7/7	OMIM:615777
9917	FAM20B	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9917	FAM20B	HP:0000365	Hearing impairment	10/67	OMIM:131300
9917	FAM20B	HP:0000343	Long philtrum	1/7	OMIM:615777
9917	FAM20B	HP:0011001	Increased bone mineral density	-	OMIM:131300
9917	FAM20B	HP:0000311	Round face	2/7	OMIM:615777
9917	FAM20B	HP:0002970	Genu varum	-	OMIM:615777
9917	FAM20B	HP:0000303	Mandibular prognathia	-	OMIM:131300
9917	FAM20B	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9917	FAM20B	HP:0000470	Short neck	1/7	OMIM:615777
9917	FAM20B	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9917	FAM20B	HP:0001763	Pes planus	1/7	OMIM:615777
9917	FAM20B	HP:0001840	Metatarsus adductus	-	OMIM:615777
9917	FAM20B	HP:0000520	Proptosis	2/4	OMIM:131300
9917	FAM20B	HP:0000520	Proptosis	7/7	OMIM:615777
9917	FAM20B	HP:0000592	Blue sclerae	2/7	OMIM:615777
9917	FAM20B	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9917	FAM20B	HP:0012514	Lower limb pain	4/4	OMIM:131300
9918	NCAPD2	HP:0001344	Absent speech	1/1	OMIM:617983
9918	NCAPD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617983
9918	NCAPD2	HP:0003577	Congenital onset	1/1	OMIM:617983
9918	NCAPD2	HP:0002342	Intellectual disability, moderate	1/1	OMIM:617983
9918	NCAPD2	HP:0004322	Short stature	1/1	OMIM:617983
9918	NCAPD2	HP:0000729	Autistic behavior	1/1	OMIM:617983
9918	NCAPD2	HP:0011451	Primary microcephaly	1/1	OMIM:617983
9918	NCAPD2	HP:0001518	Small for gestational age	1/1	OMIM:617983
9918	NCAPD2	HP:0000340	Sloping forehead	1/1	OMIM:617983
9922	IQSEC1	HP:0010864	Intellectual disability, severe	5/5	OMIM:618687
9922	IQSEC1	HP:0001290	Generalized hypotonia	5/5	OMIM:618687
9922	IQSEC1	HP:0001270	Motor delay	5/5	OMIM:618687
9922	IQSEC1	HP:0001250	Seizure	3/5	OMIM:618687
9922	IQSEC1	HP:0001263	Global developmental delay	5/5	OMIM:618687
9922	IQSEC1	HP:0001344	Absent speech	2/5	OMIM:618687
9922	IQSEC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618687
9922	IQSEC1	HP:0002066	Gait ataxia	1/5	OMIM:618687
9922	IQSEC1	HP:0002133	Status epilepticus	3/5	OMIM:618687
9922	IQSEC1	HP:0007018	Attention deficit hyperactivity disorder	3/5	OMIM:618687
9922	IQSEC1	HP:0004322	Short stature	5/5	OMIM:618687
9922	IQSEC1	HP:0031936	Delayed ability to walk	3/5	OMIM:618687
9922	IQSEC1	HP:0000718	Aggressive behavior	3/5	OMIM:618687
9922	IQSEC1	HP:0000252	Microcephaly	2/5	OMIM:618687
9922	IQSEC1	HP:0000505	Visual impairment	1/5	OMIM:618687
9927	MFN2	HP:0001155	Abnormality of the hand	HP:0040282	ORPHA:99947
9927	MFN2	HP:0002495	Impaired vibratory sensation	HP:0040282	ORPHA:99947
9927	MFN2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
9927	MFN2	HP:0002460	Distal muscle weakness	10/10	OMIM:601152
9927	MFN2	HP:0002460	Distal muscle weakness	-	OMIM:609260
9927	MFN2	HP:0007328	Impaired pain sensation	HP:0040282	ORPHA:99947
9927	MFN2	HP:0008587	Mild neurosensory hearing impairment	1/10	OMIM:601152
9927	MFN2	HP:0007210	Lower limb amyotrophy	3/3	OMIM:617087
9927	MFN2	HP:0003731	Quadriceps muscle weakness	HP:0040283	ORPHA:99947
9927	MFN2	HP:0002403	Positive Romberg sign	-	OMIM:601152
9927	MFN2	HP:0003701	Proximal muscle weakness	10/10	OMIM:601152
9927	MFN2	HP:0003701	Proximal muscle weakness	3/3	OMIM:617087
9927	MFN2	HP:0001276	Hypertonia	-	OMIM:609260
9927	MFN2	HP:0025238	Foot pain	HP:0040282	ORPHA:99947
9927	MFN2	HP:0001268	Mental deterioration	HP:0040283	OMIM:609260
9927	MFN2	HP:0001288	Gait disturbance	3/3	OMIM:617087
9927	MFN2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:2398
9927	MFN2	HP:0001284	Areflexia	1/1	OMIM:151800
9927	MFN2	HP:0001284	Areflexia	-	OMIM:601152
9927	MFN2	HP:0001284	Areflexia	-	OMIM:609260
9927	MFN2	HP:0001265	Hyporeflexia	10/10	OMIM:601152
9927	MFN2	HP:0001265	Hyporeflexia	-	OMIM:609260
9927	MFN2	HP:0001265	Hyporeflexia	-	OMIM:617087
9927	MFN2	HP:0001257	Spasticity	HP:0040283	OMIM:609260
9927	MFN2	HP:0002522	Areflexia of lower limbs	HP:0040282	ORPHA:99947
9927	MFN2	HP:0003828	Variable expressivity	-	OMIM:609260
9927	MFN2	HP:0003829	Typified by incomplete penetrance	-	OMIM:609260
9927	MFN2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:99947
9927	MFN2	HP:0001371	Flexion contracture	-	OMIM:609260
9927	MFN2	HP:0001387	Joint stiffness	HP:0040281	ORPHA:2398
9927	MFN2	HP:0001347	Hyperreflexia	HP:0040283	OMIM:609260
9927	MFN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617087
9927	MFN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
9927	MFN2	HP:0001337	Tremor	HP:0040283	OMIM:609260
9927	MFN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:609260
9927	MFN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
9927	MFN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:601152
9927	MFN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:151800
9927	MFN2	HP:0002650	Scoliosis	1/3	OMIM:617087
9927	MFN2	HP:0002650	Scoliosis	1/10	OMIM:601152
9927	MFN2	HP:0002650	Scoliosis	-	OMIM:609260
9927	MFN2	HP:0002650	Scoliosis	HP:0040284	ORPHA:99947
9927	MFN2	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:2398
9927	MFN2	HP:0031108	Triceps weakness	HP:0040283	ORPHA:99947
9927	MFN2	HP:0002601	Paresis of extensor muscles of the big toe	HP:0040282	ORPHA:99947
9927	MFN2	HP:0000158	Macroglossia	1/2	OMIM:151800
9927	MFN2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
9927	MFN2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
9927	MFN2	HP:0008944	Distal lower limb amyotrophy	HP:0040283	ORPHA:99947
9927	MFN2	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	OMIM:617087
9927	MFN2	HP:0003323	Progressive muscle weakness	1/1	OMIM:151800
9927	MFN2	HP:0003394	Muscle spasm	HP:0040282	ORPHA:99947
9927	MFN2	HP:0003390	Sensory axonal neuropathy	HP:0040281	ORPHA:99947
9927	MFN2	HP:0003378	Axonal degeneration/regeneration	-	OMIM:609260
9927	MFN2	HP:0003378	Axonal degeneration/regeneration	-	OMIM:601152
9927	MFN2	HP:0003376	Steppage gait	-	OMIM:609260
9927	MFN2	HP:0003376	Steppage gait	HP:0040283	ORPHA:99947
9927	MFN2	HP:0003376	Steppage gait	1/10	OMIM:601152
9927	MFN2	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	2/2	OMIM:617087
9927	MFN2	HP:0003383	Onion bulb formation	-	OMIM:609260
9927	MFN2	HP:0003384	Peripheral axonal atrophy	-	OMIM:609260
9927	MFN2	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:609260
9927	MFN2	HP:0003477	Peripheral axonal neuropathy	1/1	OMIM:151800
9927	MFN2	HP:0003477	Peripheral axonal neuropathy	-	OMIM:617087
9927	MFN2	HP:0002143	Abnormal spinal cord morphology	HP:0040283	ORPHA:99947
9927	MFN2	HP:0003474	Somatic sensory dysfunction	HP:0040281	ORPHA:99947
9927	MFN2	HP:0003487	Babinski sign	-	OMIM:609260
9927	MFN2	HP:0003487	Babinski sign	HP:0040283	ORPHA:99947
9927	MFN2	HP:0003448	Decreased sensory nerve conduction velocity	-	OMIM:609260
9927	MFN2	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:609260
9927	MFN2	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:601152
9927	MFN2	HP:0003444	EMG: chronic denervation signs	HP:0040281	ORPHA:99947
9927	MFN2	HP:0003438	Absent Achilles reflex	HP:0040281	ORPHA:99947
9927	MFN2	HP:0003409	Distal sensory impairment of all modalities	-	OMIM:601152
9927	MFN2	HP:0002194	Delayed gross motor development	-	OMIM:617087
9927	MFN2	HP:0002174	Postural tremor	HP:0040283	ORPHA:99947
9927	MFN2	HP:0003401	Paresthesia	HP:0040282	ORPHA:2398
9927	MFN2	HP:0003401	Paresthesia	HP:0040283	ORPHA:99947
9927	MFN2	HP:0003593	Infantile onset	-	OMIM:601152
9927	MFN2	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:2398
9927	MFN2	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:99947
9927	MFN2	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:151800
9927	MFN2	HP:0007010	Poor fine motor coordination	HP:0040282	ORPHA:99947
9927	MFN2	HP:0003693	Distal amyotrophy	20/20	OMIM:601152
9927	MFN2	HP:0003693	Distal amyotrophy	-	OMIM:609260
9927	MFN2	HP:0003690	Limb muscle weakness	-	OMIM:609260
9927	MFN2	HP:0003690	Limb muscle weakness	-	OMIM:601152
9927	MFN2	HP:0002359	Frequent falls	HP:0040282	ORPHA:99947
9927	MFN2	HP:0002378	Hand tremor	HP:0040282	ORPHA:99947
9927	MFN2	HP:0001012	Multiple lipomas	3/3	OMIM:151800
9927	MFN2	HP:0001012	Multiple lipomas	HP:0040281	ORPHA:2398
9927	MFN2	HP:0003677	Slowly progressive	-	OMIM:609260
9927	MFN2	HP:0010829	Impaired temperature sensation	HP:0040282	ORPHA:99947
9927	MFN2	HP:0009830	Peripheral neuropathy	2/2	OMIM:151800
9927	MFN2	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:2398
9927	MFN2	HP:0003621	Juvenile onset	8/19	OMIM:180100
9927	MFN2	HP:0003621	Juvenile onset	2/10	OMIM:601152
9927	MFN2	HP:0006844	Absent patellar reflexes	HP:0040283	ORPHA:99947
9927	MFN2	HP:0000649	Abnormality of visual evoked potentials	-	OMIM:601152
9927	MFN2	HP:0000648	Optic atrophy	10/10	OMIM:601152
9927	MFN2	HP:0000648	Optic atrophy	HP:0040283	OMIM:609260
9927	MFN2	HP:0000648	Optic atrophy	-	OMIM:617087
9927	MFN2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:99947
9927	MFN2	HP:0000641	Dysmetric saccades	-	OMIM:601152
9927	MFN2	HP:0000603	Central scotoma	-	OMIM:601152
9927	MFN2	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:99947
9927	MFN2	HP:0009046	Difficulty running	HP:0040282	ORPHA:99947
9927	MFN2	HP:0009027	Foot dorsiflexor weakness	-	OMIM:609260
9927	MFN2	HP:0009027	Foot dorsiflexor weakness	-	OMIM:617087
9927	MFN2	HP:0009027	Foot dorsiflexor weakness	HP:0040281	ORPHA:99947
9927	MFN2	HP:0000662	Nyctalopia	26/28	OMIM:180100
9927	MFN2	HP:0000662	Nyctalopia	HP:0040284	ORPHA:99947
9927	MFN2	HP:0006915	Inability to walk by childhood/adolescence	HP:0040283	ORPHA:99947
9927	MFN2	HP:0011463	Childhood onset	1/1	OMIM:151800
9927	MFN2	HP:0011463	Childhood onset	3/19	OMIM:180100
9927	MFN2	HP:0011463	Childhood onset	3/3	OMIM:617087
9927	MFN2	HP:0011463	Childhood onset	8/10	OMIM:601152
9927	MFN2	HP:0011462	Young adult onset	2/2	OMIM:151800
9927	MFN2	HP:0011462	Young adult onset	8/19	OMIM:180100
9927	MFN2	HP:0009124	Abnormal adipose tissue morphology	HP:0040281	ORPHA:2398
9927	MFN2	HP:0009125	Lipodystrophy	1/1	OMIM:151800
9927	MFN2	HP:0009129	Upper limb amyotrophy	3/3	OMIM:617087
9927	MFN2	HP:0000855	Insulin resistance	HP:0040282	ORPHA:2398
9927	MFN2	HP:0003236	Elevated circulating creatine kinase concentration	1/2	OMIM:151800
9927	MFN2	HP:0003202	Skeletal muscle atrophy	1/1	OMIM:151800
9927	MFN2	HP:0006460	Increased laxity of ankles	HP:0040282	ORPHA:99947
9927	MFN2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
9927	MFN2	HP:0002829	Arthralgia	HP:0040281	ORPHA:2398
9927	MFN2	HP:0002808	Kyphosis	1/1	OMIM:151800
9927	MFN2	HP:0002808	Kyphosis	1/3	OMIM:617087
9927	MFN2	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:99947
9927	MFN2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
9927	MFN2	HP:0001609	Hoarse voice	HP:0040283	ORPHA:99947
9927	MFN2	HP:0002938	Lumbar hyperlordosis	-	OMIM:601152
9927	MFN2	HP:0002936	Distal sensory impairment	1/1	OMIM:151800
9927	MFN2	HP:0002936	Distal sensory impairment	10/10	OMIM:601152
9927	MFN2	HP:0002936	Distal sensory impairment	-	OMIM:609260
9927	MFN2	HP:0002936	Distal sensory impairment	3/3	OMIM:617087
9927	MFN2	HP:0002936	Distal sensory impairment	HP:0040282	ORPHA:99947
9927	MFN2	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:99947
9927	MFN2	HP:0001604	Vocal cord paresis	4/10	OMIM:601152
9927	MFN2	HP:0001618	Dysphonia	HP:0040283	ORPHA:99947
9927	MFN2	HP:0000365	Hearing impairment	1/1	OMIM:151800
9927	MFN2	HP:0000365	Hearing impairment	2/3	OMIM:617087
9927	MFN2	HP:0000365	Hearing impairment	HP:0040283	OMIM:609260
9927	MFN2	HP:0000360	Tinnitus	-	OMIM:601152
9927	MFN2	HP:0001620	Abnormally high-pitched voice	2/3	OMIM:617087
9927	MFN2	HP:0007924	Slow decrease in visual acuity	-	OMIM:601152
9927	MFN2	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:99947
9927	MFN2	HP:0030237	Hand muscle weakness	HP:0040282	ORPHA:99947
9927	MFN2	HP:0012452	Restless legs	HP:0040283	ORPHA:99947
9927	MFN2	HP:0000458	Anosmia	-	OMIM:601152
9927	MFN2	HP:0001765	Hammertoe	-	OMIM:609260
9927	MFN2	HP:0001760	Abnormal foot morphology	HP:0040281	ORPHA:99947
9927	MFN2	HP:0001762	Talipes equinovarus	1/1	OMIM:151800
9927	MFN2	HP:0001762	Talipes equinovarus	2/3	OMIM:617087
9927	MFN2	HP:0001761	Pes cavus	1/10	OMIM:601152
9927	MFN2	HP:0001761	Pes cavus	-	OMIM:609260
9927	MFN2	HP:0001761	Pes cavus	-	OMIM:617087
9927	MFN2	HP:0001761	Pes cavus	HP:0040282	ORPHA:99947
9927	MFN2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
9927	MFN2	HP:0000575	Scotoma	5/18	OMIM:180100
9927	MFN2	HP:0012531	Pain	-	OMIM:609260
9927	MFN2	HP:0000551	Color vision defect	-	OMIM:601152
9927	MFN2	HP:0012513	Upper limb pain	HP:0040283	ORPHA:99947
9927	MFN2	HP:0000543	Optic disc pallor	-	OMIM:601152
9927	MFN2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
9927	MFN2	HP:0000543	Optic disc pallor	-	OMIM:617087
9927	MFN2	HP:0000545	Myopia	-	OMIM:180100
9928	KIF14	HP:0002465	Poor speech	-	OMIM:617914
9928	KIF14	HP:0002472	Small cerebral cortex	-	OMIM:617914
9928	KIF14	HP:0010958	Bilateral renal agenesis	1/2	OMIM:616258
9928	KIF14	HP:0010958	Bilateral renal agenesis	1/9	OMIM:617914
9928	KIF14	HP:0010864	Intellectual disability, severe	5/6	OMIM:617914
9928	KIF14	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
9928	KIF14	HP:0009879	Simplified gyral pattern	-	OMIM:617914
9928	KIF14	HP:0001290	Generalized hypotonia	-	OMIM:617914
9928	KIF14	HP:0001274	Agenesis of corpus callosum	1/2	OMIM:616258
9928	KIF14	HP:0001274	Agenesis of corpus callosum	1/8	OMIM:617914
9928	KIF14	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
9928	KIF14	HP:0001249	Intellectual disability	-	OMIM:617914
9928	KIF14	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
9928	KIF14	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
9928	KIF14	HP:0000089	Renal hypoplasia	1/2	OMIM:616258
9928	KIF14	HP:0000089	Renal hypoplasia	1/9	OMIM:617914
9928	KIF14	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
9928	KIF14	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
9928	KIF14	HP:0000013	Hypoplasia of the uterus	2/2	OMIM:616258
9928	KIF14	HP:0000013	Hypoplasia of the uterus	2/7	OMIM:617914
9928	KIF14	HP:0000007	Autosomal recessive inheritance	-	OMIM:616258
9928	KIF14	HP:0000007	Autosomal recessive inheritance	-	OMIM:617914
9928	KIF14	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
9928	KIF14	HP:0001321	Cerebellar hypoplasia	2/2	OMIM:616258
9928	KIF14	HP:0001321	Cerebellar hypoplasia	2/8	OMIM:617914
9928	KIF14	HP:0032464	Ureteral hypoplasia	2/4	OMIM:616258
9928	KIF14	HP:0000193	Bifid uvula	1/2	OMIM:616258
9928	KIF14	HP:0000148	Vaginal atresia	1/2	OMIM:616258
9928	KIF14	HP:0000148	Vaginal atresia	1/7	OMIM:617914
9928	KIF14	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
9928	KIF14	HP:0002079	Hypoplasia of the corpus callosum	1/8	OMIM:617914
9928	KIF14	HP:0002139	Arrhinencephaly	1/2	OMIM:616258
9928	KIF14	HP:0002139	Arrhinencephaly	1/8	OMIM:617914
9928	KIF14	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
9928	KIF14	HP:0002194	Delayed gross motor development	2/6	OMIM:617914
9928	KIF14	HP:0004719	Hyperechogenic kidneys	HP:0040284	OMIM:617914
9928	KIF14	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
9928	KIF14	HP:0007018	Attention deficit hyperactivity disorder	1/6	OMIM:617914
9928	KIF14	HP:0002335	Agenesis of cerebellar vermis	1/2	OMIM:616258
9928	KIF14	HP:0009760	Antecubital pterygium	1/2	OMIM:616258
9928	KIF14	HP:0003623	Neonatal onset	1/8	OMIM:617914
9928	KIF14	HP:0006872	Cerebral hypoplasia	2/2	OMIM:616258
9928	KIF14	HP:0000618	Blindness	-	OMIM:617914
9928	KIF14	HP:0000609	Optic nerve hypoplasia	2/6	OMIM:617914
9928	KIF14	HP:0004322	Short stature	HP:0040281	ORPHA:2512
9928	KIF14	HP:0004322	Short stature	HP:0040284	OMIM:617914
9928	KIF14	HP:0034198	Second trimester onset	2/2	OMIM:616258
9928	KIF14	HP:0034198	Second trimester onset	2/8	OMIM:617914
9928	KIF14	HP:0011463	Childhood onset	5/8	OMIM:617914
9928	KIF14	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
9928	KIF14	HP:0045028	Microlissencephaly	1/8	OMIM:617914
9928	KIF14	HP:0002804	Arthrogryposis multiplex congenita	2/2	OMIM:616258
9928	KIF14	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
9928	KIF14	HP:0000252	Microcephaly	2/2	OMIM:616258
9928	KIF14	HP:0000252	Microcephaly	7/9	OMIM:617914
9928	KIF14	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
9928	KIF14	HP:0001562	Oligohydramnios	1/2	OMIM:616258
9928	KIF14	HP:0001511	Intrauterine growth retardation	2/2	OMIM:616258
9928	KIF14	HP:0001511	Intrauterine growth retardation	2/9	OMIM:617914
9928	KIF14	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
9928	KIF14	HP:0000369	Low-set ears	1/2	OMIM:616258
9928	KIF14	HP:0000340	Sloping forehead	1/2	OMIM:616258
9928	KIF14	HP:0000340	Sloping forehead	-	OMIM:617914
9928	KIF14	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
9928	KIF14	HP:0000347	Micrognathia	1/2	OMIM:616258
9928	KIF14	HP:0012300	Ureteral agenesis	2/9	OMIM:617914
9928	KIF14	HP:0000486	Strabismus	4/6	OMIM:617914
9928	KIF14	HP:0000463	Anteverted nares	1/2	OMIM:616258
9928	KIF14	HP:0000431	Wide nasal bridge	1/2	OMIM:616258
9928	KIF14	HP:0001838	Rocker bottom foot	1/2	OMIM:616258
9928	KIF14	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
9928	KIF14	HP:0000568	Microphthalmia	2/6	OMIM:617914
9935	MAFB	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:233
9935	MAFB	HP:0001156	Brachydactyly	HP:0040283	ORPHA:233
9935	MAFB	HP:0003774	Stage 5 chronic kidney disease	10/21	OMIM:166300
9935	MAFB	HP:0025186	Marcus Gunn jaw winking synkinesis	HP:0040283	ORPHA:233
9935	MAFB	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:233
9935	MAFB	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	-	OMIM:166300
9935	MAFB	HP:0009921	Duane anomaly	HP:0040281	ORPHA:233
9935	MAFB	HP:0009921	Duane anomaly	-	OMIM:617041
9935	MAFB	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9935	MAFB	HP:0001293	Cranial nerve compression	-	OMIM:131300
9935	MAFB	HP:0001288	Gait disturbance	HP:0040281	ORPHA:2774
9935	MAFB	HP:0001250	Seizure	HP:0040283	ORPHA:233
9935	MAFB	HP:0001252	Hypotonia	2/7	OMIM:615777
9935	MAFB	HP:0001249	Intellectual disability	5/7	OMIM:615777
9935	MAFB	HP:0001263	Global developmental delay	HP:0040283	ORPHA:233
9935	MAFB	HP:0001263	Global developmental delay	-	OMIM:615777
9935	MAFB	HP:0001225	Wrist swelling	-	OMIM:166300
9935	MAFB	HP:0001225	Wrist swelling	HP:0040281	ORPHA:2774
9935	MAFB	HP:0007400	Irregular hyperpigmentation	HP:0040283	ORPHA:233
9935	MAFB	HP:0002540	Inability to walk	1/1	OMIM:166300
9935	MAFB	HP:0002515	Waddling gait	54/102	OMIM:131300
9935	MAFB	HP:0000083	Renal insufficiency	15/19	OMIM:166300
9935	MAFB	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:233
9935	MAFB	HP:0000093	Proteinuria	HP:0040281	ORPHA:2774
9935	MAFB	HP:0000093	Proteinuria	18/20	OMIM:166300
9935	MAFB	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:2774
9935	MAFB	HP:0001382	Joint hypermobility	-	OMIM:615777
9935	MAFB	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9935	MAFB	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:233
9935	MAFB	HP:0006234	Osteolysis involving tarsal bones	18/18	OMIM:166300
9935	MAFB	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9935	MAFB	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9935	MAFB	HP:0001324	Muscle weakness	40/96	OMIM:131300
9935	MAFB	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9935	MAFB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9935	MAFB	HP:0000006	Autosomal dominant inheritance	-	OMIM:617041
9935	MAFB	HP:0000006	Autosomal dominant inheritance	-	OMIM:166300
9935	MAFB	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9935	MAFB	HP:0002650	Scoliosis	12/14	OMIM:131300
9935	MAFB	HP:0003974	Absent radius	HP:0040283	ORPHA:233
9935	MAFB	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9935	MAFB	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9935	MAFB	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9935	MAFB	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9935	MAFB	HP:0001495	Carpal osteolysis	29/29	OMIM:166300
9935	MAFB	HP:0001495	Carpal osteolysis	HP:0040281	ORPHA:2774
9935	MAFB	HP:0000175	Cleft palate	HP:0040283	ORPHA:233
9935	MAFB	HP:0000175	Cleft palate	2/7	OMIM:615777
9935	MAFB	HP:0001473	Metatarsal osteolysis	-	OMIM:166300
9935	MAFB	HP:0002797	Osteolysis	HP:0040281	ORPHA:2774
9935	MAFB	HP:0005021	Bilateral elbow dislocations	1/1	OMIM:166300
9935	MAFB	HP:0000112	Nephropathy	HP:0040282	ORPHA:2774
9935	MAFB	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:2774
9935	MAFB	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:233
9935	MAFB	HP:0003388	Easy fatigability	36/76	OMIM:131300
9935	MAFB	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9935	MAFB	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:2774
9935	MAFB	HP:0009487	Ulnar deviation of the hand	-	OMIM:166300
9935	MAFB	HP:0003457	EMG abnormality	HP:0040281	ORPHA:2774
9935	MAFB	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040283	ORPHA:233
9935	MAFB	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:233
9935	MAFB	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:2774
9935	MAFB	HP:0003593	Infantile onset	3/7	OMIM:166300
9935	MAFB	HP:0003510	Severe short stature	7/7	OMIM:615777
9935	MAFB	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:233
9935	MAFB	HP:0002315	Headache	-	OMIM:131300
9935	MAFB	HP:0004976	Knee dislocation	6/7	OMIM:615777
9935	MAFB	HP:0009803	Short phalanx of finger	-	OMIM:615777
9935	MAFB	HP:0009763	Limb pain	63/92	OMIM:131300
9935	MAFB	HP:0003621	Juvenile onset	5/16	OMIM:166300
9935	MAFB	HP:0003621	Juvenile onset	-	OMIM:131300
9935	MAFB	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9935	MAFB	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9935	MAFB	HP:0000639	Nystagmus	HP:0040283	ORPHA:233
9935	MAFB	HP:0000634	Impaired ocular abduction	HP:0040282	ORPHA:233
9935	MAFB	HP:0000634	Impaired ocular abduction	-	OMIM:617041
9935	MAFB	HP:6001056	Out-toeing	-	OMIM:131300
9935	MAFB	HP:0000651	Diplopia	-	OMIM:131300
9935	MAFB	HP:0000646	Amblyopia	HP:0040283	ORPHA:233
9935	MAFB	HP:0000643	Blepharospasm	HP:0040283	ORPHA:233
9935	MAFB	HP:0000612	Iris coloboma	HP:0040283	ORPHA:233
9935	MAFB	HP:0000615	Abnormal pupil morphology	HP:0040283	ORPHA:233
9935	MAFB	HP:0001956	Truncal obesity	2/7	OMIM:615777
9935	MAFB	HP:0001903	Anemia	HP:0040283	OMIM:131300
9935	MAFB	HP:0010049	Short metacarpal	-	OMIM:615777
9935	MAFB	HP:0011386	Narrow internal auditory canal	HP:0040283	ORPHA:233
9935	MAFB	HP:0011365	Patchy hypopigmentation of hair	HP:0040283	ORPHA:233
9935	MAFB	HP:0000678	Dental crowding	-	OMIM:615777
9935	MAFB	HP:0000661	Palpebral fissure narrowing on adduction	-	OMIM:617041
9935	MAFB	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:233
9935	MAFB	HP:0000670	Carious teeth	-	OMIM:131300
9935	MAFB	HP:0011304	Broad thumb	2/7	OMIM:615777
9935	MAFB	HP:0000668	Hypodontia	-	OMIM:615777
9935	MAFB	HP:0000664	Synophrys	-	OMIM:615777
9935	MAFB	HP:0004326	Cachexia	HP:0040281	ORPHA:2774
9935	MAFB	HP:0005640	Abnormal vertebral segmentation and fusion	HP:0040282	ORPHA:233
9935	MAFB	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:233
9935	MAFB	HP:0004396	Poor appetite	-	OMIM:131300
9935	MAFB	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9935	MAFB	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9935	MAFB	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9935	MAFB	HP:0003026	Short long bone	7/7	OMIM:615777
9935	MAFB	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9935	MAFB	HP:0003019	Abnormality of the wrist	HP:0040281	ORPHA:2774
9935	MAFB	HP:0012745	Short palpebral fissure	HP:0040281	ORPHA:233
9935	MAFB	HP:0012732	Anorectal anomaly	HP:0040283	ORPHA:233
9935	MAFB	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9935	MAFB	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9935	MAFB	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9935	MAFB	HP:0000750	Delayed speech and language development	-	OMIM:615777
9935	MAFB	HP:0011463	Childhood onset	8/17	OMIM:166300
9935	MAFB	HP:0011462	Young adult onset	1/9	OMIM:166300
9935	MAFB	HP:0011461	Fetal onset	7/7	OMIM:615777
9935	MAFB	HP:0000774	Narrow chest	2/7	OMIM:615777
9935	MAFB	HP:0000776	Congenital diaphragmatic hernia	1/8	OMIM:166300
9935	MAFB	HP:0003100	Slender long bone	HP:0040281	ORPHA:2774
9935	MAFB	HP:0000926	Platyspondyly	1/7	OMIM:615777
9935	MAFB	HP:0003180	Flat acetabular roof	-	OMIM:615777
9935	MAFB	HP:0004482	Relative macrocephaly	-	OMIM:615777
9935	MAFB	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9935	MAFB	HP:0000822	Hypertension	1/1	OMIM:166300
9935	MAFB	HP:0000823	Delayed puberty	-	OMIM:131300
9935	MAFB	HP:0000894	Short clavicles	-	OMIM:615777
9935	MAFB	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:233
9935	MAFB	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9935	MAFB	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:233
9935	MAFB	HP:0030836	Wrist pain	9/9	OMIM:166300
9935	MAFB	HP:0030840	Ankle pain	9/9	OMIM:166300
9935	MAFB	HP:0100274	Gustatory lacrimation	HP:0040283	ORPHA:233
9935	MAFB	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9935	MAFB	HP:0000938	Osteopenia	-	OMIM:166300
9935	MAFB	HP:0000286	Epicanthus	1/7	OMIM:615777
9935	MAFB	HP:0000280	Coarse facial features	2/7	OMIM:615777
9935	MAFB	HP:0012246	Oculomotor nerve palsy	HP:0040281	ORPHA:233
9935	MAFB	HP:0007766	Optic disc hypoplasia	HP:0040283	ORPHA:233
9935	MAFB	HP:0002829	Arthralgia	-	OMIM:166300
9935	MAFB	HP:0002827	Hip dislocation	3/7	OMIM:615777
9935	MAFB	HP:0000252	Microcephaly	HP:0040283	ORPHA:233
9935	MAFB	HP:0000252	Microcephaly	-	OMIM:615777
9935	MAFB	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:2774
9935	MAFB	HP:0000232	Everted lower lip vermilion	HP:0040283	ORPHA:233
9935	MAFB	HP:0002857	Genu valgum	-	OMIM:131300
9935	MAFB	HP:0001533	Slender build	-	OMIM:131300
9935	MAFB	HP:0001504	Metacarpal osteolysis	-	OMIM:166300
9935	MAFB	HP:0001504	Metacarpal osteolysis	HP:0040281	ORPHA:2774
9935	MAFB	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9935	MAFB	HP:0007818	Central heterochromia	HP:0040283	ORPHA:233
9935	MAFB	HP:0007807	Optic nerve compression	-	OMIM:131300
9935	MAFB	HP:0012385	Camptodactyly	HP:0040283	ORPHA:233
9935	MAFB	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:233
9935	MAFB	HP:0012368	Flat face	7/7	OMIM:615777
9935	MAFB	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:233
9935	MAFB	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9935	MAFB	HP:0000365	Hearing impairment	3/14	OMIM:617041
9935	MAFB	HP:0000365	Hearing impairment	HP:0040283	ORPHA:233
9935	MAFB	HP:0000365	Hearing impairment	10/67	OMIM:131300
9935	MAFB	HP:0000343	Long philtrum	1/7	OMIM:615777
9935	MAFB	HP:0011001	Increased bone mineral density	-	OMIM:131300
9935	MAFB	HP:0000347	Micrognathia	HP:0040281	ORPHA:2774
9935	MAFB	HP:0000347	Micrognathia	HP:0040283	ORPHA:233
9935	MAFB	HP:0000347	Micrognathia	1/1	OMIM:166300
9935	MAFB	HP:0000311	Round face	2/7	OMIM:615777
9935	MAFB	HP:0000327	Hypoplasia of the maxilla	-	OMIM:166300
9935	MAFB	HP:0000325	Triangular face	HP:0040281	ORPHA:2774
9935	MAFB	HP:0000325	Triangular face	1/1	OMIM:166300
9935	MAFB	HP:0002984	Hypoplasia of the radius	HP:0040283	ORPHA:233
9935	MAFB	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:233
9935	MAFB	HP:0002970	Genu varum	-	OMIM:615777
9935	MAFB	HP:0000303	Mandibular prognathia	-	OMIM:131300
9935	MAFB	HP:0007957	Corneal opacity	3/9	OMIM:166300
9935	MAFB	HP:0007990	Hypoplastic iris stroma	HP:0040283	ORPHA:233
9935	MAFB	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:233
9935	MAFB	HP:0000402	Stenosis of the external auditory canal	HP:0040283	ORPHA:233
9935	MAFB	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9935	MAFB	HP:0000486	Strabismus	HP:0040281	ORPHA:233
9935	MAFB	HP:0000482	Microcornea	HP:0040283	ORPHA:233
9935	MAFB	HP:0000496	Abnormality of eye movement	HP:0040281	ORPHA:233
9935	MAFB	HP:0000490	Deeply set eye	HP:0040282	ORPHA:233
9935	MAFB	HP:0000463	Anteverted nares	HP:0040282	ORPHA:233
9935	MAFB	HP:0001785	Ankle swelling	-	OMIM:166300
9935	MAFB	HP:0000470	Short neck	HP:0040283	ORPHA:233
9935	MAFB	HP:0000470	Short neck	1/7	OMIM:615777
9935	MAFB	HP:0000465	Webbed neck	HP:0040283	ORPHA:233
9935	MAFB	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9935	MAFB	HP:0001763	Pes planus	1/7	OMIM:615777
9935	MAFB	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:233
9935	MAFB	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:233
9935	MAFB	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:2774
9935	MAFB	HP:0001761	Pes cavus	1/8	OMIM:166300
9935	MAFB	HP:0031705	Compensatory head posture	HP:0040283	ORPHA:233
9935	MAFB	HP:0001840	Metatarsus adductus	-	OMIM:615777
9935	MAFB	HP:0000526	Aniridia	HP:0040283	ORPHA:233
9935	MAFB	HP:0000520	Proptosis	2/4	OMIM:131300
9935	MAFB	HP:0000520	Proptosis	7/7	OMIM:615777
9935	MAFB	HP:0000520	Proptosis	HP:0040281	ORPHA:2774
9935	MAFB	HP:0000520	Proptosis	2/9	OMIM:166300
9935	MAFB	HP:0000506	Telecanthus	HP:0040283	ORPHA:2774
9935	MAFB	HP:0000508	Ptosis	HP:0040283	ORPHA:233
9935	MAFB	HP:0012586	Bilateral renal atrophy	1/1	OMIM:166300
9935	MAFB	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:233
9935	MAFB	HP:0000592	Blue sclerae	2/7	OMIM:615777
9935	MAFB	HP:0000567	Chorioretinal coloboma	HP:0040283	ORPHA:233
9935	MAFB	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9935	MAFB	HP:0012514	Lower limb pain	4/4	OMIM:131300
9935	MAFB	HP:0000542	Impaired ocular adduction	HP:0040282	ORPHA:233
9935	MAFB	HP:0000542	Impaired ocular adduction	-	OMIM:617041
9939	RBM8A	HP:0001181	Adducted thumb	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0001181	Adducted thumb	1/1	OMIM:274000
9939	RBM8A	HP:0010946	Dilatation of the renal pelvis	1/34	OMIM:274000
9939	RBM8A	HP:0002414	Spina bifida	-	OMIM:274000
9939	RBM8A	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9939	RBM8A	HP:0001293	Cranial nerve compression	-	OMIM:131300
9939	RBM8A	HP:0001270	Motor delay	-	OMIM:274000
9939	RBM8A	HP:0001250	Seizure	-	OMIM:274000
9939	RBM8A	HP:0001252	Hypotonia	2/7	OMIM:615777
9939	RBM8A	HP:0001249	Intellectual disability	1/34	OMIM:274000
9939	RBM8A	HP:0001249	Intellectual disability	5/7	OMIM:615777
9939	RBM8A	HP:0001263	Global developmental delay	HP:0040283	OMIM:274000
9939	RBM8A	HP:0001263	Global developmental delay	-	OMIM:615777
9939	RBM8A	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0006101	Finger syndactyly	HP:0040283	OMIM:274000
9939	RBM8A	HP:0007413	Nevus flammeus of the forehead	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0007413	Nevus flammeus of the forehead	HP:0040283	OMIM:274000
9939	RBM8A	HP:0002515	Waddling gait	54/102	OMIM:131300
9939	RBM8A	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0000085	Horseshoe kidney	6/60	OMIM:274000
9939	RBM8A	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0000076	Vesicoureteral reflux	1/1	OMIM:274000
9939	RBM8A	HP:0000073	Ureteral duplication	1/34	OMIM:274000
9939	RBM8A	HP:0001382	Joint hypermobility	-	OMIM:615777
9939	RBM8A	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9939	RBM8A	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9939	RBM8A	HP:0007514	Edema of the dorsum of hands	1/26	OMIM:274000
9939	RBM8A	HP:0012098	Edema of the dorsum of feet	1/26	OMIM:274000
9939	RBM8A	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9939	RBM8A	HP:0001324	Muscle weakness	40/96	OMIM:131300
9939	RBM8A	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9939	RBM8A	HP:0002673	Coxa valga	HP:0040282	ORPHA:3320
9939	RBM8A	HP:0002673	Coxa valga	HP:0040282	OMIM:274000
9939	RBM8A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9939	RBM8A	HP:0000007	Autosomal recessive inheritance	-	OMIM:274000
9939	RBM8A	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9939	RBM8A	HP:0001320	Cerebellar vermis hypoplasia	1/1	OMIM:274000
9939	RBM8A	HP:0002650	Scoliosis	12/14	OMIM:131300
9939	RBM8A	HP:0002650	Scoliosis	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0001321	Cerebellar hypoplasia	HP:0040283	OMIM:274000
9939	RBM8A	HP:0003974	Absent radius	HP:0040281	ORPHA:3320
9939	RBM8A	HP:0003974	Absent radius	21/26	OMIM:274000
9939	RBM8A	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9939	RBM8A	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9939	RBM8A	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9939	RBM8A	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9939	RBM8A	HP:0001498	Carpal bone hypoplasia	HP:0040283	OMIM:274000
9939	RBM8A	HP:0000175	Cleft palate	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0000175	Cleft palate	2/7	OMIM:615777
9939	RBM8A	HP:0000175	Cleft palate	1/34	OMIM:274000
9939	RBM8A	HP:0000151	Aplasia of the uterus	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0000151	Aplasia of the uterus	HP:0040283	OMIM:274000
9939	RBM8A	HP:0008952	Shoulder muscle hypoplasia	-	OMIM:274000
9939	RBM8A	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0001433	Hepatosplenomegaly	HP:0040283	OMIM:274000
9939	RBM8A	HP:0003396	Syringomyelia	1/26	OMIM:274000
9939	RBM8A	HP:0003388	Easy fatigability	36/76	OMIM:131300
9939	RBM8A	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9939	RBM8A	HP:0009487	Ulnar deviation of the hand	1/1	OMIM:274000
9939	RBM8A	HP:0009486	Radial deviation of the hand	1/1	OMIM:274000
9939	RBM8A	HP:0002188	Delayed CNS myelination	HP:0040283	OMIM:274000
9939	RBM8A	HP:0004717	Axial malrotation of the kidney	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0004717	Axial malrotation of the kidney	HP:0040283	OMIM:274000
9939	RBM8A	HP:0004712	Renal malrotation	1/1	OMIM:274000
9939	RBM8A	HP:0002245	Meckel diverticulum	-	OMIM:274000
9939	RBM8A	HP:0003577	Congenital onset	4/4	OMIM:274000
9939	RBM8A	HP:0009702	Carpal synostosis	-	OMIM:274000
9939	RBM8A	HP:0003510	Severe short stature	7/7	OMIM:615777
9939	RBM8A	HP:0002389	Cavum septum pellucidum	HP:0040283	OMIM:274000
9939	RBM8A	HP:0001051	Seborrheic dermatitis	-	OMIM:274000
9939	RBM8A	HP:0002315	Headache	-	OMIM:131300
9939	RBM8A	HP:0004977	Bilateral radial aplasia	67/67	OMIM:274000
9939	RBM8A	HP:0004976	Knee dislocation	6/7	OMIM:615777
9939	RBM8A	HP:0009829	Phocomelia	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0009829	Phocomelia	HP:0040283	OMIM:274000
9939	RBM8A	HP:0009803	Short phalanx of finger	-	OMIM:615777
9939	RBM8A	HP:0009803	Short phalanx of finger	HP:0040283	OMIM:274000
9939	RBM8A	HP:0100694	Tibial torsion	HP:0040282	ORPHA:3320
9939	RBM8A	HP:0100694	Tibial torsion	4/20	OMIM:274000
9939	RBM8A	HP:0009777	Absent thumb	0/27	OMIM:274000
9939	RBM8A	HP:0009778	Short thumb	25/26	OMIM:274000
9939	RBM8A	HP:0009763	Limb pain	63/92	OMIM:131300
9939	RBM8A	HP:0003621	Juvenile onset	-	OMIM:131300
9939	RBM8A	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9939	RBM8A	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:3320
9939	RBM8A	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	OMIM:274000
9939	RBM8A	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9939	RBM8A	HP:6001056	Out-toeing	-	OMIM:131300
9939	RBM8A	HP:0000651	Diplopia	-	OMIM:131300
9939	RBM8A	HP:0001974	Increased total leukocyte count	62%	OMIM:274000
9939	RBM8A	HP:0001956	Truncal obesity	2/7	OMIM:615777
9939	RBM8A	HP:0001928	Abnormality of coagulation	HP:0040281	ORPHA:3320
9939	RBM8A	HP:0001903	Anemia	HP:0040283	OMIM:131300
9939	RBM8A	HP:0001903	Anemia	1/1	OMIM:274000
9939	RBM8A	HP:0010049	Short metacarpal	-	OMIM:615777
9939	RBM8A	HP:0000678	Dental crowding	-	OMIM:615777
9939	RBM8A	HP:0000670	Carious teeth	-	OMIM:131300
9939	RBM8A	HP:0011304	Broad thumb	2/7	OMIM:615777
9939	RBM8A	HP:0011304	Broad thumb	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0011304	Broad thumb	HP:0040282	OMIM:274000
9939	RBM8A	HP:0000668	Hypodontia	-	OMIM:615777
9939	RBM8A	HP:0000664	Synophrys	-	OMIM:615777
9939	RBM8A	HP:0004322	Short stature	7%	OMIM:274000
9939	RBM8A	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:274000
9939	RBM8A	HP:0004396	Poor appetite	-	OMIM:131300
9939	RBM8A	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9939	RBM8A	HP:0003031	Ulnar bowing	1/1	OMIM:274000
9939	RBM8A	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9939	RBM8A	HP:0003043	Abnormal shoulder morphology	HP:0040283	OMIM:274000
9939	RBM8A	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9939	RBM8A	HP:0003026	Short long bone	7/7	OMIM:615777
9939	RBM8A	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9939	RBM8A	HP:0003022	Hypoplasia of the ulna	4/26	OMIM:274000
9939	RBM8A	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9939	RBM8A	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9939	RBM8A	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9939	RBM8A	HP:0000750	Delayed speech and language development	-	OMIM:615777
9939	RBM8A	HP:0011461	Fetal onset	7/7	OMIM:615777
9939	RBM8A	HP:0000774	Narrow chest	2/7	OMIM:615777
9939	RBM8A	HP:0005773	Short forearm	1/1	OMIM:274000
9939	RBM8A	HP:0000926	Platyspondyly	1/7	OMIM:615777
9939	RBM8A	HP:0003180	Flat acetabular roof	-	OMIM:615777
9939	RBM8A	HP:0004482	Relative macrocephaly	-	OMIM:615777
9939	RBM8A	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9939	RBM8A	HP:0000891	Cervical ribs	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0000891	Cervical ribs	HP:0040283	OMIM:274000
9939	RBM8A	HP:0100327	Cow milk allergy	17/49	OMIM:274000
9939	RBM8A	HP:0000823	Delayed puberty	-	OMIM:131300
9939	RBM8A	HP:0000895	Lateral clavicle hook	HP:0040283	OMIM:274000
9939	RBM8A	HP:0000894	Short clavicles	-	OMIM:615777
9939	RBM8A	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9939	RBM8A	HP:0000996	Facial capillary hemangioma	8/34	OMIM:274000
9939	RBM8A	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9939	RBM8A	HP:0000286	Epicanthus	1/7	OMIM:615777
9939	RBM8A	HP:0000280	Coarse facial features	2/7	OMIM:615777
9939	RBM8A	HP:0000272	Malar flattening	HP:0040283	OMIM:274000
9939	RBM8A	HP:0006443	Patellar aplasia	HP:0040282	OMIM:274000
9939	RBM8A	HP:0002827	Hip dislocation	HP:0040282	ORPHA:3320
9939	RBM8A	HP:0002827	Hip dislocation	3/7	OMIM:615777
9939	RBM8A	HP:0002827	Hip dislocation	HP:0040282	OMIM:274000
9939	RBM8A	HP:0000252	Microcephaly	-	OMIM:615777
9939	RBM8A	HP:0000248	Brachycephaly	-	OMIM:274000
9939	RBM8A	HP:0002857	Genu valgum	-	OMIM:131300
9939	RBM8A	HP:0001522	Death in infancy	40%	OMIM:274000
9939	RBM8A	HP:0001533	Slender build	-	OMIM:131300
9939	RBM8A	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9939	RBM8A	HP:0006507	Aplasia/hypoplasia of the humerus	HP:0040282	ORPHA:3320
9939	RBM8A	HP:0006507	Aplasia/hypoplasia of the humerus	50%	OMIM:274000
9939	RBM8A	HP:0007807	Optic nerve compression	-	OMIM:131300
9939	RBM8A	HP:0012368	Flat face	7/7	OMIM:615777
9939	RBM8A	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9939	RBM8A	HP:0002949	Fused cervical vertebrae	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0002949	Fused cervical vertebrae	HP:0040283	OMIM:274000
9939	RBM8A	HP:0006495	Aplasia/Hypoplasia of the ulna	HP:0040282	ORPHA:3320
9939	RBM8A	HP:0006498	Aplasia/Hypoplasia of the patella	HP:0040282	ORPHA:3320
9939	RBM8A	HP:0000365	Hearing impairment	10/67	OMIM:131300
9939	RBM8A	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:3320
9939	RBM8A	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0000343	Long philtrum	1/7	OMIM:615777
9939	RBM8A	HP:0011001	Increased bone mineral density	-	OMIM:131300
9939	RBM8A	HP:0000337	Broad forehead	HP:0040282	ORPHA:3320
9939	RBM8A	HP:0002999	Patellar dislocation	HP:0040282	ORPHA:3320
9939	RBM8A	HP:0002999	Patellar dislocation	HP:0040283	OMIM:274000
9939	RBM8A	HP:0001680	Coarctation of aorta	1/1	OMIM:274000
9939	RBM8A	HP:0000348	High forehead	HP:0040282	ORPHA:3320
9939	RBM8A	HP:0000347	Micrognathia	-	OMIM:274000
9939	RBM8A	HP:0000347	Micrognathia	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0030137	Prolonged bleeding following circumcision	1/1	OMIM:274000
9939	RBM8A	HP:0002980	Femoral bowing	2/26	OMIM:274000
9939	RBM8A	HP:0001643	Patent ductus arteriosus	1/34	OMIM:274000
9939	RBM8A	HP:0000311	Round face	2/7	OMIM:615777
9939	RBM8A	HP:0002990	Fibular aplasia	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0002990	Fibular aplasia	1/26	OMIM:274000
9939	RBM8A	HP:0002984	Hypoplasia of the radius	8/26	OMIM:274000
9939	RBM8A	HP:0001629	Ventricular septal defect	5/61	OMIM:274000
9939	RBM8A	HP:0002970	Genu varum	-	OMIM:615777
9939	RBM8A	HP:0002970	Genu varum	HP:0040282	ORPHA:3320
9939	RBM8A	HP:0002970	Genu varum	HP:0040282	OMIM:274000
9939	RBM8A	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0001636	Tetralogy of Fallot	HP:0040283	OMIM:274000
9939	RBM8A	HP:0001631	Atrial septal defect	1/34	OMIM:274000
9939	RBM8A	HP:0000303	Mandibular prognathia	-	OMIM:131300
9939	RBM8A	HP:0007957	Corneal opacity	1/1	OMIM:274000
9939	RBM8A	HP:0006695	Atrioventricular canal defect	1/34	OMIM:274000
9939	RBM8A	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:3320
9939	RBM8A	HP:0001737	Pancreatic cysts	-	OMIM:274000
9939	RBM8A	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9939	RBM8A	HP:0000486	Strabismus	HP:0040283	OMIM:274000
9939	RBM8A	HP:0000463	Anteverted nares	-	OMIM:274000
9939	RBM8A	HP:0000470	Short neck	1/7	OMIM:615777
9939	RBM8A	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9939	RBM8A	HP:0001763	Pes planus	1/7	OMIM:615777
9939	RBM8A	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:274000
9939	RBM8A	HP:0000518	Cataract	1/1	OMIM:274000
9939	RBM8A	HP:0001840	Metatarsus adductus	-	OMIM:615777
9939	RBM8A	HP:0000520	Proptosis	2/4	OMIM:131300
9939	RBM8A	HP:0000520	Proptosis	7/7	OMIM:615777
9939	RBM8A	HP:0000508	Ptosis	HP:0040283	OMIM:274000
9939	RBM8A	HP:0000592	Blue sclerae	2/7	OMIM:615777
9939	RBM8A	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9939	RBM8A	HP:0001880	Increased total eosinophil count	HP:0040282	OMIM:274000
9939	RBM8A	HP:0012514	Lower limb pain	4/4	OMIM:131300
9939	RBM8A	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:3320
9939	RBM8A	HP:0001873	Thrombocytopenia	78/82	OMIM:274000
9940	DLEC1	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:99977
9940	DLEC1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:99977
9940	DLEC1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:99977
9940	DLEC1	HP:0100749	Chest pain	HP:0040282	ORPHA:99977
9940	DLEC1	HP:0012735	Cough	HP:0040282	ORPHA:99977
9940	DLEC1	HP:0011459	Esophageal carcinoma	HP:0040281	ORPHA:99977
9940	DLEC1	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:99977
9940	DLEC1	HP:0001864	Clinodactyly of the 5th toe	HP:0040281	ORPHA:99977
9948	WDR1	HP:0010976	Decreased total B cell count	6/6	OMIM:150550
9948	WDR1	HP:0001328	Specific learning disability	-	OMIM:150550
9948	WDR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:150550
9948	WDR1	HP:0025452	Pyoderma gangrenosum	2/6	OMIM:150550
9948	WDR1	HP:0002719	Recurrent infections	6/6	OMIM:150550
9948	WDR1	HP:0002716	Lymphadenopathy	2/6	OMIM:150550
9948	WDR1	HP:0002014	Diarrhea	3/6	OMIM:150550
9948	WDR1	HP:0002110	Bronchiectasis	3/6	OMIM:150550
9948	WDR1	HP:0004854	Intermittent thrombocytopenia	2/6	OMIM:150550
9948	WDR1	HP:0009098	Chronic oral candidiasis	1/6	OMIM:150550
9948	WDR1	HP:0001954	Recurrent fever	2/6	OMIM:150550
9948	WDR1	HP:0031394	Abnormal CD4:CD8 ratio	2/6	OMIM:150550
9948	WDR1	HP:0006532	Recurrent pneumonia	4/6	OMIM:150550
9948	WDR1	HP:0025615	Abscess	-	OMIM:150550
9948	WDR1	HP:0011107	Recurrent aphthous stomatitis	4/6	OMIM:150550
9948	WDR1	HP:0001744	Splenomegaly	1/6	OMIM:150550
9948	WDR1	HP:0001875	Decreased total neutrophil count	-	OMIM:150550
9949	AMMECR1	HP:0001182	Tapered finger	HP:0040282	ORPHA:86818
9949	AMMECR1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:86818
9949	AMMECR1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
9949	AMMECR1	HP:0001293	Cranial nerve compression	-	OMIM:131300
9949	AMMECR1	HP:0001290	Generalized hypotonia	HP:0040284	OMIM:300990
9949	AMMECR1	HP:0100820	Glomerulopathy	HP:0040281	ORPHA:86818
9949	AMMECR1	HP:0001252	Hypotonia	2/7	OMIM:615777
9949	AMMECR1	HP:0001252	Hypotonia	HP:0040282	ORPHA:86818
9949	AMMECR1	HP:0001249	Intellectual disability	-	OMIM:300990
9949	AMMECR1	HP:0001249	Intellectual disability	5/7	OMIM:615777
9949	AMMECR1	HP:0001263	Global developmental delay	-	OMIM:615777
9949	AMMECR1	HP:0002515	Waddling gait	54/102	OMIM:131300
9949	AMMECR1	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:86818
9949	AMMECR1	HP:0000093	Proteinuria	HP:0040281	ORPHA:86818
9949	AMMECR1	HP:0001382	Joint hypermobility	-	OMIM:300990
9949	AMMECR1	HP:0001382	Joint hypermobility	-	OMIM:615777
9949	AMMECR1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
9949	AMMECR1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
9949	AMMECR1	HP:0410005	Cleft hard palate	1/1	OMIM:300990
9949	AMMECR1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
9949	AMMECR1	HP:0001324	Muscle weakness	40/96	OMIM:131300
9949	AMMECR1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
9949	AMMECR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
9949	AMMECR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
9949	AMMECR1	HP:0002650	Scoliosis	12/14	OMIM:131300
9949	AMMECR1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
9949	AMMECR1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
9949	AMMECR1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
9949	AMMECR1	HP:0000193	Bifid uvula	2/2	OMIM:300990
9949	AMMECR1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
9949	AMMECR1	HP:0000160	Narrow mouth	1/1	OMIM:300990
9949	AMMECR1	HP:0000176	Submucous cleft hard palate	2/2	OMIM:300990
9949	AMMECR1	HP:0000175	Cleft palate	2/7	OMIM:615777
9949	AMMECR1	HP:0000121	Nephrocalcinosis	2/2	OMIM:300990
9949	AMMECR1	HP:0000110	Renal dysplasia	1/2	OMIM:300990
9949	AMMECR1	HP:0001419	X-linked recessive inheritance	-	OMIM:300990
9949	AMMECR1	HP:0002003	Large forehead	1/2	OMIM:300990
9949	AMMECR1	HP:0011800	Midface retrusion	-	OMIM:300990
9949	AMMECR1	HP:0003388	Easy fatigability	36/76	OMIM:131300
9949	AMMECR1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
9949	AMMECR1	HP:0002150	Hypercalciuria	-	OMIM:300990
9949	AMMECR1	HP:0003593	Infantile onset	-	OMIM:300990
9949	AMMECR1	HP:0003510	Severe short stature	7/7	OMIM:615777
9949	AMMECR1	HP:0002315	Headache	-	OMIM:131300
9949	AMMECR1	HP:0004976	Knee dislocation	6/7	OMIM:615777
9949	AMMECR1	HP:0009836	Broad distal phalanx of finger	-	OMIM:300990
9949	AMMECR1	HP:0009803	Short phalanx of finger	-	OMIM:615777
9949	AMMECR1	HP:0009763	Limb pain	63/92	OMIM:131300
9949	AMMECR1	HP:0003621	Juvenile onset	-	OMIM:131300
9949	AMMECR1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
9949	AMMECR1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:300990
9949	AMMECR1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
9949	AMMECR1	HP:6001056	Out-toeing	-	OMIM:131300
9949	AMMECR1	HP:0000651	Diplopia	-	OMIM:131300
9949	AMMECR1	HP:0001956	Truncal obesity	2/7	OMIM:615777
9949	AMMECR1	HP:0001903	Anemia	1/1	OMIM:300990
9949	AMMECR1	HP:0001903	Anemia	HP:0040283	OMIM:131300
9949	AMMECR1	HP:0010049	Short metacarpal	-	OMIM:615777
9949	AMMECR1	HP:0000684	Delayed eruption of teeth	-	OMIM:300990
9949	AMMECR1	HP:0000678	Dental crowding	-	OMIM:300990
9949	AMMECR1	HP:0000678	Dental crowding	-	OMIM:615777
9949	AMMECR1	HP:0000670	Carious teeth	-	OMIM:131300
9949	AMMECR1	HP:0011304	Broad thumb	2/7	OMIM:615777
9949	AMMECR1	HP:0000668	Hypodontia	-	OMIM:615777
9949	AMMECR1	HP:0000664	Synophrys	1/1	OMIM:300990
9949	AMMECR1	HP:0000664	Synophrys	-	OMIM:615777
9949	AMMECR1	HP:0004322	Short stature	3/3	OMIM:300990
9949	AMMECR1	HP:0004396	Poor appetite	-	OMIM:131300
9949	AMMECR1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
9949	AMMECR1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
9949	AMMECR1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
9949	AMMECR1	HP:0003026	Short long bone	7/7	OMIM:615777
9949	AMMECR1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
9949	AMMECR1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
9949	AMMECR1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
9949	AMMECR1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
9949	AMMECR1	HP:0000750	Delayed speech and language development	1/1	OMIM:300990
9949	AMMECR1	HP:0000750	Delayed speech and language development	-	OMIM:615777
9949	AMMECR1	HP:0011461	Fetal onset	7/7	OMIM:615777
9949	AMMECR1	HP:0000774	Narrow chest	2/7	OMIM:615777
9949	AMMECR1	HP:0004445	Elliptocytosis	11/11	OMIM:300990
9949	AMMECR1	HP:0004445	Elliptocytosis	HP:0040282	ORPHA:86818
9949	AMMECR1	HP:0000926	Platyspondyly	1/7	OMIM:615777
9949	AMMECR1	HP:0003180	Flat acetabular roof	-	OMIM:615777
9949	AMMECR1	HP:0004482	Relative macrocephaly	-	OMIM:615777
9949	AMMECR1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
9949	AMMECR1	HP:0003097	Short femur	1/2	OMIM:300990
9949	AMMECR1	HP:0000823	Delayed puberty	-	OMIM:131300
9949	AMMECR1	HP:0000894	Short clavicles	-	OMIM:615777
9949	AMMECR1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
9949	AMMECR1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
9949	AMMECR1	HP:0000944	Abnormal metaphysis morphology	HP:0040283	ORPHA:86818
9949	AMMECR1	HP:0000286	Epicanthus	1/7	OMIM:615777
9949	AMMECR1	HP:0000280	Coarse facial features	2/7	OMIM:615777
9949	AMMECR1	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:86818
9949	AMMECR1	HP:0000272	Malar flattening	HP:0040281	ORPHA:86818
9949	AMMECR1	HP:0002827	Hip dislocation	3/7	OMIM:615777
9949	AMMECR1	HP:0000252	Microcephaly	-	OMIM:615777
9949	AMMECR1	HP:0000219	Thin upper lip vermilion	3/3	OMIM:300990
9949	AMMECR1	HP:0001561	Polyhydramnios	2/2	OMIM:300990
9949	AMMECR1	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:86818
9949	AMMECR1	HP:0002857	Genu valgum	-	OMIM:131300
9949	AMMECR1	HP:0001533	Slender build	-	OMIM:131300
9949	AMMECR1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
9949	AMMECR1	HP:0007807	Optic nerve compression	-	OMIM:131300
9949	AMMECR1	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:86818
9949	AMMECR1	HP:0012368	Flat face	3/3	OMIM:300990
9949	AMMECR1	HP:0012368	Flat face	7/7	OMIM:615777
9949	AMMECR1	HP:0000396	Overfolded helix	-	OMIM:300990
9949	AMMECR1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
9949	AMMECR1	HP:0002907	Microscopic hematuria	HP:0040281	ORPHA:86818
9949	AMMECR1	HP:0000365	Hearing impairment	10/67	OMIM:131300
9949	AMMECR1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:86818
9949	AMMECR1	HP:0000343	Long philtrum	1/7	OMIM:615777
9949	AMMECR1	HP:0011001	Increased bone mineral density	-	OMIM:131300
9949	AMMECR1	HP:0000337	Broad forehead	-	OMIM:300990
9949	AMMECR1	HP:0000347	Micrognathia	2/2	OMIM:300990
9949	AMMECR1	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:86818
9949	AMMECR1	HP:0001643	Patent ductus arteriosus	1/1	OMIM:300990
9949	AMMECR1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:86818
9949	AMMECR1	HP:0000311	Round face	2/7	OMIM:615777
9949	AMMECR1	HP:0001655	Patent foramen ovale	1/1	OMIM:300990
9949	AMMECR1	HP:0002970	Genu varum	-	OMIM:615777
9949	AMMECR1	HP:0000303	Mandibular prognathia	-	OMIM:131300
9949	AMMECR1	HP:0006610	Wide intermamillary distance	1/2	OMIM:300990
9949	AMMECR1	HP:0000407	Sensorineural hearing impairment	-	OMIM:300990
9949	AMMECR1	HP:0000405	Conductive hearing impairment	1/1	OMIM:300990
9949	AMMECR1	HP:0005280	Depressed nasal bridge	2/2	OMIM:300990
9949	AMMECR1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
9949	AMMECR1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:86818
9949	AMMECR1	HP:0000486	Strabismus	1/2	OMIM:300990
9949	AMMECR1	HP:0000486	Strabismus	HP:0040283	ORPHA:86818
9949	AMMECR1	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:86818
9949	AMMECR1	HP:0000494	Downslanted palpebral fissures	2/2	OMIM:300990
9949	AMMECR1	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:86818
9949	AMMECR1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:86818
9949	AMMECR1	HP:0000470	Short neck	2/2	OMIM:300990
9949	AMMECR1	HP:0000470	Short neck	1/7	OMIM:615777
9949	AMMECR1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
9949	AMMECR1	HP:0001763	Pes planus	-	OMIM:300990
9949	AMMECR1	HP:0001763	Pes planus	1/7	OMIM:615777
9949	AMMECR1	HP:0000410	Mixed hearing impairment	-	OMIM:300990
9949	AMMECR1	HP:0001762	Talipes equinovarus	1/1	OMIM:300990
9949	AMMECR1	HP:0000518	Cataract	HP:0040284	OMIM:300990
9949	AMMECR1	HP:0001840	Metatarsus adductus	-	OMIM:615777
9949	AMMECR1	HP:0000520	Proptosis	2/4	OMIM:131300
9949	AMMECR1	HP:0000520	Proptosis	7/7	OMIM:615777
9949	AMMECR1	HP:0000592	Blue sclerae	2/7	OMIM:615777
9949	AMMECR1	HP:0000565	Esotropia	-	OMIM:300990
9949	AMMECR1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
9949	AMMECR1	HP:0001883	Talipes	1/2	OMIM:300990
9949	AMMECR1	HP:0012514	Lower limb pain	4/4	OMIM:131300
9949	AMMECR1	HP:0000545	Myopia	HP:0040283	ORPHA:86818
9966	TNFSF15	HP:0002480	Hepatic encephalopathy	HP:0040283	ORPHA:186
9966	TNFSF15	HP:0001114	Xanthelasma	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0001278	Orthostatic hypotension	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:186
9966	TNFSF15	HP:0002570	Steatorrhea	HP:0040283	ORPHA:186
9966	TNFSF15	HP:0001399	Hepatic failure	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0001394	Cirrhosis	HP:0040281	ORPHA:186
9966	TNFSF15	HP:0002613	Biliary cirrhosis	HP:0040281	ORPHA:186
9966	TNFSF15	HP:0002608	Celiac disease	HP:0040283	ORPHA:186
9966	TNFSF15	HP:0012115	Hepatitis	HP:0040283	ORPHA:186
9966	TNFSF15	HP:0001409	Portal hypertension	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0001402	Hepatocellular carcinoma	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0002040	Esophageal varix	HP:0040283	ORPHA:186
9966	TNFSF15	HP:0003496	Increased circulating IgM level	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0003493	Antinuclear antibody positivity	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0011971	Dermatographic urticaria	HP:0040281	ORPHA:186
9966	TNFSF15	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:186
9966	TNFSF15	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:186
9966	TNFSF15	HP:0004386	Gastrointestinal inflammation	HP:0040284	ORPHA:186
9966	TNFSF15	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0003119	Abnormal circulating lipid concentration	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0000820	Abnormality of the thyroid gland	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0003270	Abdominal distention	HP:0040283	ORPHA:186
9966	TNFSF15	HP:0003261	Increased circulating IgA concentration	HP:0040283	ORPHA:186
9966	TNFSF15	HP:0000989	Pruritus	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:186
9966	TNFSF15	HP:0000952	Jaundice	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0000939	Osteoporosis	HP:0040283	ORPHA:186
9966	TNFSF15	HP:0012203	Onychomycosis	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0001541	Ascites	HP:0040283	ORPHA:186
9966	TNFSF15	HP:0002841	Recurrent fungal infections	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0012378	Fatigue	HP:0040283	ORPHA:186
9966	TNFSF15	HP:0011040	Abnormal intrahepatic bile duct morphology	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0002908	Conjugated hyperbilirubinemia	HP:0040281	ORPHA:186
9966	TNFSF15	HP:0002960	Autoimmunity	HP:0040282	ORPHA:186
9966	TNFSF15	HP:0030167	Antimitochondrial antibody positivity	HP:0040281	ORPHA:186
9966	TNFSF15	HP:0001744	Splenomegaly	HP:0040283	ORPHA:186
9968	MED12	HP:0001172	Abnormal thumb morphology	HP:0040283	ORPHA:93932
9968	MED12	HP:0001171	Split hand	-	OMIM:305450
9968	MED12	HP:0001187	Hyperextensibility of the finger joints	2/4	OMIM:309520
9968	MED12	HP:0001156	Brachydactyly	HP:0040283	ORPHA:776
9968	MED12	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:776
9968	MED12	HP:0001166	Arachnodactyly	-	OMIM:309520
9968	MED12	HP:0001159	Syndactyly	-	OMIM:305450
9968	MED12	HP:0009928	Thick nasal alae	HP:0040282	ORPHA:293707
9968	MED12	HP:0020206	Simple ear	7/7	OMIM:305450
9968	MED12	HP:0009890	High anterior hairline	1/5	OMIM:300895
9968	MED12	HP:0008551	Microtia	HP:0040282	ORPHA:93932
9968	MED12	HP:0008551	Microtia	2/5	OMIM:300895
9968	MED12	HP:0008544	Abnormally folded helix	-	OMIM:309520
9968	MED12	HP:0001290	Generalized hypotonia	-	OMIM:309520
9968	MED12	HP:0001274	Agenesis of corpus callosum	3/5	OMIM:309520
9968	MED12	HP:0001270	Motor delay	-	OMIM:305450
9968	MED12	HP:0001250	Seizure	HP:0040283	ORPHA:776
9968	MED12	HP:0001250	Seizure	-	OMIM:309520
9968	MED12	HP:0001250	Seizure	1/5	OMIM:300895
9968	MED12	HP:0001250	Seizure	HP:0040283	ORPHA:93932
9968	MED12	HP:0001250	Seizure	4/7	OMIM:305450
9968	MED12	HP:0001252	Hypotonia	HP:0040281	ORPHA:776
9968	MED12	HP:0001252	Hypotonia	3/5	OMIM:300895
9968	MED12	HP:0001252	Hypotonia	9/10	OMIM:305450
9968	MED12	HP:0001249	Intellectual disability	HP:0040281	ORPHA:776
9968	MED12	HP:0001249	Intellectual disability	3/4	OMIM:309520
9968	MED12	HP:0001249	Intellectual disability	5/5	OMIM:300895
9968	MED12	HP:0001249	Intellectual disability	HP:0040282	ORPHA:293707
9968	MED12	HP:0001249	Intellectual disability	9/9	OMIM:305450
9968	MED12	HP:0001263	Global developmental delay	-	OMIM:300895
9968	MED12	HP:0001263	Global developmental delay	HP:0040282	ORPHA:93932
9968	MED12	HP:0001263	Global developmental delay	-	OMIM:305450
9968	MED12	HP:0001257	Spasticity	2/4	OMIM:305450
9968	MED12	HP:0002566	Intestinal malrotation	-	OMIM:305450
9968	MED12	HP:0002566	Intestinal malrotation	4/4	OMIM:301068
9968	MED12	HP:0002566	Intestinal malrotation	HP:0040282	ORPHA:1415
9968	MED12	HP:0100890	Cyst of the ductus choledochus	HP:0040282	ORPHA:1415
9968	MED12	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:93932
9968	MED12	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040282	ORPHA:776
9968	MED12	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040282	ORPHA:93932
9968	MED12	HP:0031082	Impaired growth-hormone response to glucagon stimulation test	1/4	OMIM:301068
9968	MED12	HP:0001212	Prominent fingertip pads	-	OMIM:305450
9968	MED12	HP:0000083	Renal insufficiency	1/4	OMIM:301068
9968	MED12	HP:0000098	Tall stature	3/4	OMIM:309520
9968	MED12	HP:0001396	Cholestasis	2/4	OMIM:301068
9968	MED12	HP:0001399	Hepatic failure	1/4	OMIM:301068
9968	MED12	HP:0001395	Hepatic fibrosis	1/4	OMIM:301068
9968	MED12	HP:0001394	Cirrhosis	1/4	OMIM:301068
9968	MED12	HP:0000076	Vesicoureteral reflux	2/4	OMIM:301068
9968	MED12	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:1415
9968	MED12	HP:0000072	Hydroureter	1/4	OMIM:301068
9968	MED12	HP:0000046	Small scrotum	-	OMIM:300895
9968	MED12	HP:0001371	Flexion contracture	-	OMIM:309520
9968	MED12	HP:0000054	Micropenis	2/5	OMIM:300895
9968	MED12	HP:0001385	Hip dysplasia	1/5	OMIM:300895
9968	MED12	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:776
9968	MED12	HP:0001382	Joint hypermobility	-	OMIM:309520
9968	MED12	HP:0001382	Joint hypermobility	5/5	OMIM:300895
9968	MED12	HP:0000053	Macroorchidism	-	OMIM:309520
9968	MED12	HP:0000053	Macroorchidism	HP:0040282	ORPHA:776
9968	MED12	HP:0000047	Hypospadias	HP:0040282	ORPHA:93932
9968	MED12	HP:0000047	Hypospadias	0/8	OMIM:305450
9968	MED12	HP:0000049	Shawl scrotum	1/5	OMIM:300895
9968	MED12	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:93932
9968	MED12	HP:0000023	Inguinal hernia	3/10	OMIM:305450
9968	MED12	HP:0000023	Inguinal hernia	1/5	OMIM:300895
9968	MED12	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:93932
9968	MED12	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:93932
9968	MED12	HP:0001357	Plagiocephaly	-	OMIM:305450
9968	MED12	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:93932
9968	MED12	HP:0000028	Cryptorchidism	4/8	OMIM:305450
9968	MED12	HP:0000028	Cryptorchidism	3/5	OMIM:300895
9968	MED12	HP:0000010	Recurrent urinary tract infections	4/4	OMIM:301068
9968	MED12	HP:0001344	Absent speech	3/5	OMIM:300895
9968	MED12	HP:0001338	Partial agenesis of the corpus callosum	-	OMIM:305450
9968	MED12	HP:0002650	Scoliosis	HP:0040281	ORPHA:776
9968	MED12	HP:0002650	Scoliosis	1/5	OMIM:300895
9968	MED12	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:93932
9968	MED12	HP:0001319	Neonatal hypotonia	-	OMIM:305450
9968	MED12	HP:0002608	Celiac disease	1/4	OMIM:301068
9968	MED12	HP:0000189	Narrow palate	-	OMIM:305450
9968	MED12	HP:0000185	Cleft soft palate	1/4	OMIM:301068
9968	MED12	HP:0000179	Thick lower lip vermilion	-	OMIM:305450
9968	MED12	HP:0000194	Open mouth	HP:0040283	ORPHA:93932
9968	MED12	HP:0000194	Open mouth	3/7	OMIM:309520
9968	MED12	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:776
9968	MED12	HP:0000160	Narrow mouth	5/5	OMIM:300895
9968	MED12	HP:0000175	Cleft palate	-	OMIM:305450
9968	MED12	HP:0001476	Delayed closure of the anterior fontanelle	-	OMIM:305450
9968	MED12	HP:0000154	Wide mouth	HP:0040282	ORPHA:93932
9968	MED12	HP:0000154	Wide mouth	-	OMIM:305450
9968	MED12	HP:0000148	Vaginal atresia	HP:0040283	ORPHA:1415
9968	MED12	HP:0007678	Lacrimal duct stenosis	1/4	OMIM:301068
9968	MED12	HP:0008947	Floppy infant	HP:0040282	ORPHA:293707
9968	MED12	HP:0008935	Generalized neonatal hypotonia	HP:0040282	ORPHA:93932
9968	MED12	HP:0032524	Long thumb	1/5	OMIM:300895
9968	MED12	HP:0000126	Hydronephrosis	4/4	OMIM:301068
9968	MED12	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1415
9968	MED12	HP:0002761	Generalized joint hypermobility	HP:0040282	ORPHA:93932
9968	MED12	HP:0001423	X-linked dominant inheritance	-	OMIM:301068
9968	MED12	HP:0001433	Hepatosplenomegaly	1/4	OMIM:301068
9968	MED12	HP:0001410	Decreased liver function	4/4	OMIM:301068
9968	MED12	HP:0001409	Portal hypertension	1/4	OMIM:301068
9968	MED12	HP:0001408	Bile duct proliferation	1/4	OMIM:301068
9968	MED12	HP:0001419	X-linked recessive inheritance	-	OMIM:305450
9968	MED12	HP:0001419	X-linked recessive inheritance	-	OMIM:300895
9968	MED12	HP:0001419	X-linked recessive inheritance	-	OMIM:309520
9968	MED12	HP:0002025	Anal stenosis	-	OMIM:305450
9968	MED12	HP:0002023	Anal atresia	HP:0040283	ORPHA:93932
9968	MED12	HP:0002023	Anal atresia	4/5	OMIM:305450
9968	MED12	HP:0002023	Anal atresia	HP:0040283	ORPHA:1415
9968	MED12	HP:0002021	Pyloric stenosis	-	OMIM:305450
9968	MED12	HP:0002021	Pyloric stenosis	HP:0040282	ORPHA:93932
9968	MED12	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:93932
9968	MED12	HP:0002019	Constipation	HP:0040283	ORPHA:93932
9968	MED12	HP:0002019	Constipation	5/8	OMIM:305450
9968	MED12	HP:0002019	Constipation	2/5	OMIM:300895
9968	MED12	HP:0002019	Constipation	HP:0040283	ORPHA:1415
9968	MED12	HP:0002036	Hiatus hernia	1/5	OMIM:300895
9968	MED12	HP:0002027	Abdominal pain	2/4	OMIM:301068
9968	MED12	HP:0002002	Deep philtrum	-	OMIM:309520
9968	MED12	HP:0002013	Vomiting	1/4	OMIM:301068
9968	MED12	HP:0002007	Frontal bossing	-	OMIM:305450
9968	MED12	HP:0002007	Frontal bossing	-	OMIM:309520
9968	MED12	HP:0033196	Portal inflammation	1/4	OMIM:301068
9968	MED12	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:93932
9968	MED12	HP:0002040	Esophageal varix	1/4	OMIM:301068
9968	MED12	HP:0009466	Radial deviation of finger	-	OMIM:305450
9968	MED12	HP:0033149	Intrahepatic bile duct dilatation	4/4	OMIM:301068
9968	MED12	HP:0009487	Ulnar deviation of the hand	1/5	OMIM:300895
9968	MED12	HP:0009473	Joint contracture of the hand	-	OMIM:305450
9968	MED12	HP:0004785	Malrotation of colon	HP:0040282	ORPHA:93932
9968	MED12	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:93932
9968	MED12	HP:0002136	Broad-based gait	HP:0040282	ORPHA:93932
9968	MED12	HP:0010609	Skin tags	-	OMIM:305450
9968	MED12	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:776
9968	MED12	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:776
9968	MED12	HP:0003593	Infantile onset	-	OMIM:309520
9968	MED12	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:1415
9968	MED12	HP:0002240	Hepatomegaly	1/4	OMIM:301068
9968	MED12	HP:0002236	Frontal upsweep of hair	HP:0040282	ORPHA:93932
9968	MED12	HP:0002236	Frontal upsweep of hair	3/3	OMIM:305450
9968	MED12	HP:0002250	Abnormal large intestine morphology	HP:0040282	ORPHA:93932
9968	MED12	HP:0002248	Hematemesis	1/4	OMIM:301068
9968	MED12	HP:0002213	Fine hair	-	OMIM:305450
9968	MED12	HP:0002282	Gray matter heterotopia	-	OMIM:305450
9968	MED12	HP:0100753	Schizophrenia	HP:0040283	ORPHA:776
9968	MED12	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:93932
9968	MED12	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:305450
9968	MED12	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:776
9968	MED12	HP:0011968	Feeding difficulties	1/4	OMIM:301068
9968	MED12	HP:0011968	Feeding difficulties	4/5	OMIM:300895
9968	MED12	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:93932
9968	MED12	HP:0002321	Vertigo	1/4	OMIM:301068
9968	MED12	HP:6000413	Ectopic ureteral orifice	HP:0040283	ORPHA:1415
9968	MED12	HP:0010773	Partial anomalous pulmonary venous return	1/4	OMIM:301068
9968	MED12	HP:0009778	Short thumb	1/5	OMIM:300895
9968	MED12	HP:0009762	Facial wrinkling	HP:0040283	ORPHA:93932
9968	MED12	HP:0009762	Facial wrinkling	-	OMIM:305450
9968	MED12	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:309520
9968	MED12	HP:0002307	Drooling	HP:0040282	ORPHA:93932
9968	MED12	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:1415
9968	MED12	HP:0004297	Abnormality of the biliary system	HP:0040282	ORPHA:1415
9968	MED12	HP:0001971	Hypersplenism	1/4	OMIM:301068
9968	MED12	HP:0000639	Nystagmus	2/5	OMIM:300895
9968	MED12	HP:0000609	Optic nerve hypoplasia	HP:0040282	ORPHA:93932
9968	MED12	HP:0010055	Broad hallux	7/7	OMIM:305450
9968	MED12	HP:0000678	Dental crowding	HP:0040283	ORPHA:776
9968	MED12	HP:0000678	Dental crowding	HP:0040282	ORPHA:93932
9968	MED12	HP:0000678	Dental crowding	5/6	OMIM:309520
9968	MED12	HP:0000678	Dental crowding	-	OMIM:305450
9968	MED12	HP:0000691	Microdontia	2/4	OMIM:300895
9968	MED12	HP:0000687	Widely spaced teeth	1/4	OMIM:300895
9968	MED12	HP:0011304	Broad thumb	3/6	OMIM:309520
9968	MED12	HP:0011304	Broad thumb	7/7	OMIM:305450
9968	MED12	HP:0004325	Decreased body weight	1/5	OMIM:300895
9968	MED12	HP:0004322	Short stature	HP:0040282	ORPHA:1415
9968	MED12	HP:0004322	Short stature	HP:0040282	ORPHA:93932
9968	MED12	HP:0004322	Short stature	2/9	OMIM:305450
9968	MED12	HP:0004322	Short stature	3/4	OMIM:301068
9968	MED12	HP:0000752	Hyperactivity	-	OMIM:309520
9968	MED12	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:776
9968	MED12	HP:0000767	Pectus excavatum	-	OMIM:309520
9968	MED12	HP:0000766	Abnormal sternum morphology	HP:0040282	ORPHA:93932
9968	MED12	HP:0000738	Hallucinations	HP:0040283	ORPHA:776
9968	MED12	HP:0000737	Irritability	1/4	OMIM:301068
9968	MED12	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:93932
9968	MED12	HP:0000750	Delayed speech and language development	5/5	OMIM:300895
9968	MED12	HP:0012712	Mild hearing impairment	2/4	OMIM:301068
9968	MED12	HP:0000744	Low frustration tolerance	-	OMIM:309520
9968	MED12	HP:0000718	Aggressive behavior	-	OMIM:309520
9968	MED12	HP:0000717	Autism	-	OMIM:309520
9968	MED12	HP:0000717	Autism	1/5	OMIM:300895
9968	MED12	HP:0000712	Emotional lability	-	OMIM:309520
9968	MED12	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:93932
9968	MED12	HP:0000722	Compulsive behaviors	-	OMIM:309520
9968	MED12	HP:0000709	Psychosis	HP:0040283	ORPHA:776
9968	MED12	HP:0000709	Psychosis	-	OMIM:309520
9968	MED12	HP:0000708	Atypical behavior	HP:0040281	ORPHA:776
9968	MED12	HP:0000774	Narrow chest	1/5	OMIM:300895
9968	MED12	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:1415
9968	MED12	HP:0012760	Reduced social responsiveness	-	OMIM:309520
9968	MED12	HP:0004415	Pulmonary artery stenosis	1/4	OMIM:301068
9968	MED12	HP:0003189	Long nose	-	OMIM:309520
9968	MED12	HP:0004482	Relative macrocephaly	7/9	OMIM:305450
9968	MED12	HP:0004492	Widely patent fontanelles and sutures	HP:0040282	ORPHA:93932
9968	MED12	HP:0004467	Preauricular pit	1/4	OMIM:301068
9968	MED12	HP:0004467	Preauricular pit	HP:0040281	ORPHA:1415
9968	MED12	HP:0100333	Unilateral cleft lip	1/4	OMIM:301068
9968	MED12	HP:0100336	Bilateral cleft lip	2/4	OMIM:301068
9968	MED12	HP:0100337	Bilateral cleft palate	2/4	OMIM:301068
9968	MED12	HP:0100334	Unilateral cleft palate	1/4	OMIM:301068
9968	MED12	HP:0000822	Hypertension	1/4	OMIM:301068
9968	MED12	HP:0040022	Clinodactyly of the 2nd finger	HP:0040283	ORPHA:93932
9968	MED12	HP:0005876	Progressive flexion contractures	HP:0040283	ORPHA:93932
9968	MED12	HP:0005852	Limited elbow extension and supination	HP:0040282	ORPHA:93932
9968	MED12	HP:0045075	Sparse eyebrow	5/5	OMIM:300895
9968	MED12	HP:0000989	Pruritus	2/4	OMIM:301068
9968	MED12	HP:0000957	Cafe-au-lait spot	-	OMIM:300895
9968	MED12	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:93932
9968	MED12	HP:0000954	Single transverse palmar crease	-	OMIM:305450
9968	MED12	HP:0000952	Jaundice	4/4	OMIM:301068
9968	MED12	HP:0000960	Sacral dimple	HP:0040283	ORPHA:93932
9968	MED12	HP:0000960	Sacral dimple	-	OMIM:305450
9968	MED12	HP:0000939	Osteoporosis	1/4	OMIM:301068
9968	MED12	HP:0008070	Sparse hair	-	OMIM:305450
9968	MED12	HP:0000286	Epicanthus	-	OMIM:305450
9968	MED12	HP:0000286	Epicanthus	5/5	OMIM:300895
9968	MED12	HP:0000280	Coarse facial features	-	OMIM:300895
9968	MED12	HP:0000280	Coarse facial features	HP:0040282	ORPHA:293707
9968	MED12	HP:0000260	Wide anterior fontanel	-	OMIM:305450
9968	MED12	HP:0000256	Macrocephaly	HP:0040282	ORPHA:93932
9968	MED12	HP:0000256	Macrocephaly	HP:0040281	ORPHA:776
9968	MED12	HP:0000256	Macrocephaly	-	OMIM:309520
9968	MED12	HP:0000275	Narrow face	HP:0040282	ORPHA:776
9968	MED12	HP:0000275	Narrow face	7/7	OMIM:309520
9968	MED12	HP:0000276	Long face	1/5	OMIM:300895
9968	MED12	HP:0000276	Long face	7/7	OMIM:309520
9968	MED12	HP:0000272	Malar flattening	HP:0040282	ORPHA:93932
9968	MED12	HP:0000269	Prominent occiput	HP:0040282	ORPHA:93932
9968	MED12	HP:0002828	Multiple joint contractures	-	OMIM:305450
9968	MED12	HP:0030084	Clinodactyly	-	OMIM:305450
9968	MED12	HP:0030084	Clinodactyly	2/5	OMIM:300895
9968	MED12	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93932
9968	MED12	HP:0000238	Hydrocephalus	-	OMIM:305450
9968	MED12	HP:0000248	Brachycephaly	HP:0040283	ORPHA:776
9968	MED12	HP:0000219	Thin upper lip vermilion	2/7	OMIM:309520
9968	MED12	HP:0000218	High palate	HP:0040282	ORPHA:93932
9968	MED12	HP:0000218	High palate	HP:0040281	ORPHA:776
9968	MED12	HP:0000218	High palate	5/5	OMIM:309520
9968	MED12	HP:0000218	High palate	1/5	OMIM:300895
9968	MED12	HP:0001545	Anteriorly placed anus	-	OMIM:305450
9968	MED12	HP:0000233	Thin vermilion border	-	OMIM:300895
9968	MED12	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:93932
9968	MED12	HP:0001537	Umbilical hernia	-	OMIM:305450
9968	MED12	HP:0001537	Umbilical hernia	1/4	OMIM:301068
9968	MED12	HP:0000202	Orofacial cleft	HP:0040281	ORPHA:1415
9968	MED12	HP:0001533	Slender build	HP:0040282	ORPHA:93932
9968	MED12	HP:0000204	Cleft upper lip	-	OMIM:305450
9968	MED12	HP:0001508	Failure to thrive	2/4	OMIM:301068
9968	MED12	HP:0002836	Bladder exstrophy	1/4	OMIM:301068
9968	MED12	HP:0001519	Disproportionate tall stature	-	OMIM:309520
9968	MED12	HP:0001519	Disproportionate tall stature	HP:0040281	ORPHA:776
9968	MED12	HP:0001510	Growth delay	1/4	OMIM:301068
9968	MED12	HP:0011090	Fused teeth	HP:0040282	ORPHA:93932
9968	MED12	HP:0012385	Camptodactyly	-	OMIM:305450
9968	MED12	HP:0000384	Preauricular skin tag	HP:0040281	ORPHA:1415
9968	MED12	HP:0000378	Cupped ear	HP:0040282	ORPHA:93932
9968	MED12	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:1415
9968	MED12	HP:0006579	Prolonged neonatal jaundice	3/4	OMIM:301068
9968	MED12	HP:0005209	Intrahepatic bile duct cysts	1/4	OMIM:301068
9968	MED12	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:776
9968	MED12	HP:0002938	Lumbar hyperlordosis	-	OMIM:305450
9968	MED12	HP:0002944	Thoracolumbar scoliosis	1/4	OMIM:301068
9968	MED12	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:776
9968	MED12	HP:0001611	Hypernasal speech	-	OMIM:309520
9968	MED12	HP:0002910	Elevated circulating hepatic transaminase concentration	1/4	OMIM:301068
9968	MED12	HP:0002904	Hyperbilirubinemia	1/4	OMIM:301068
9968	MED12	HP:0000365	Hearing impairment	3/5	OMIM:300895
9968	MED12	HP:0000358	Posteriorly rotated ears	2/5	OMIM:300895
9968	MED12	HP:0000369	Low-set ears	HP:0040283	ORPHA:776
9968	MED12	HP:0000369	Low-set ears	-	OMIM:309520
9968	MED12	HP:0000369	Low-set ears	2/5	OMIM:300895
9968	MED12	HP:0000343	Long philtrum	HP:0040282	ORPHA:93932
9968	MED12	HP:0000343	Long philtrum	-	OMIM:305450
9968	MED12	HP:0000343	Long philtrum	-	OMIM:300895
9968	MED12	HP:0012330	Pyelonephritis	1/4	OMIM:301068
9968	MED12	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:93932
9968	MED12	HP:0001680	Coarctation of aorta	1/4	OMIM:301068
9968	MED12	HP:0001680	Coarctation of aorta	HP:0040282	ORPHA:1415
9968	MED12	HP:0000348	High forehead	HP:0040282	ORPHA:93932
9968	MED12	HP:0000348	High forehead	HP:0040281	ORPHA:776
9968	MED12	HP:0000347	Micrognathia	HP:0040282	ORPHA:93932
9968	MED12	HP:0000347	Micrognathia	HP:0040281	ORPHA:776
9968	MED12	HP:0000347	Micrognathia	5/7	OMIM:309520
9968	MED12	HP:0000347	Micrognathia	-	OMIM:305450
9968	MED12	HP:0000347	Micrognathia	5/5	OMIM:300895
9968	MED12	HP:0000319	Smooth philtrum	-	OMIM:300895
9968	MED12	HP:0000316	Hypertelorism	HP:0040282	ORPHA:93932
9968	MED12	HP:0000316	Hypertelorism	4/6	OMIM:305450
9968	MED12	HP:0000316	Hypertelorism	3/5	OMIM:300895
9968	MED12	HP:0001643	Patent ductus arteriosus	2/4	OMIM:301068
9968	MED12	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1415
9968	MED12	HP:0000331	Short chin	HP:0040283	ORPHA:93932
9968	MED12	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:776
9968	MED12	HP:0000327	Hypoplasia of the maxilla	-	OMIM:309520
9968	MED12	HP:0030151	Cholangitis	1/4	OMIM:301068
9968	MED12	HP:0000322	Short philtrum	HP:0040282	ORPHA:776
9968	MED12	HP:0000322	Short philtrum	7/7	OMIM:309520
9968	MED12	HP:0000325	Triangular face	5/5	OMIM:300895
9968	MED12	HP:0000325	Triangular face	HP:0040282	ORPHA:293707
9968	MED12	HP:0001655	Patent foramen ovale	1/4	OMIM:301068
9968	MED12	HP:0001629	Ventricular septal defect	1/4	OMIM:301068
9968	MED12	HP:0001629	Ventricular septal defect	-	OMIM:309520
9968	MED12	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:1415
9968	MED12	HP:0001627	Abnormal heart morphology	-	OMIM:305450
9968	MED12	HP:0001620	Abnormally high-pitched voice	-	OMIM:305450
9968	MED12	HP:0001622	Premature birth	HP:0040282	ORPHA:93932
9968	MED12	HP:0030169	Gastric varix	1/4	OMIM:301068
9968	MED12	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:1415
9968	MED12	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:93932
9968	MED12	HP:0001631	Atrial septal defect	1/4	OMIM:301068
9968	MED12	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:776
9968	MED12	HP:0001631	Atrial septal defect	-	OMIM:309520
9968	MED12	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1415
9968	MED12	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:93932
9968	MED12	HP:0005343	Hypoplasia of the bladder	1/4	OMIM:301068
9968	MED12	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:93932
9968	MED12	HP:0000407	Sensorineural hearing impairment	-	OMIM:305450
9968	MED12	HP:0000402	Stenosis of the external auditory canal	4/5	OMIM:300895
9968	MED12	HP:0000402	Stenosis of the external auditory canal	HP:0040282	ORPHA:93932
9968	MED12	HP:0005280	Depressed nasal bridge	5/5	OMIM:300895
9968	MED12	HP:0000486	Strabismus	HP:0040282	ORPHA:93932
9968	MED12	HP:0000486	Strabismus	-	OMIM:305450
9968	MED12	HP:0000486	Strabismus	3/5	OMIM:300895
9968	MED12	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:93932
9968	MED12	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:93932
9968	MED12	HP:0000494	Downslanted palpebral fissures	4/5	OMIM:305450
9968	MED12	HP:0000494	Downslanted palpebral fissures	0/5	OMIM:300895
9968	MED12	HP:0000460	Narrow nose	4/7	OMIM:309520
9968	MED12	HP:0001788	Premature rupture of membranes	1/4	OMIM:301068
9968	MED12	HP:0000475	Broad neck	HP:0040282	ORPHA:93932
9968	MED12	HP:0000470	Short neck	-	OMIM:305450
9968	MED12	HP:0012437	Abnormal gallbladder morphology	HP:0040282	ORPHA:1415
9968	MED12	HP:0012433	Abnormal social behavior	HP:0040283	ORPHA:93932
9968	MED12	HP:0001763	Pes planus	HP:0040282	ORPHA:93932
9968	MED12	HP:0000453	Choanal atresia	HP:0040283	ORPHA:93932
9968	MED12	HP:0000453	Choanal atresia	-	OMIM:305450
9968	MED12	HP:0000448	Prominent nose	HP:0040282	ORPHA:93932
9968	MED12	HP:0000448	Prominent nose	-	OMIM:305450
9968	MED12	HP:0000448	Prominent nose	-	OMIM:300895
9968	MED12	HP:0000448	Prominent nose	HP:0040282	ORPHA:293707
9968	MED12	HP:0000446	Narrow nasal bridge	-	OMIM:309520
9968	MED12	HP:0000414	Bulbous nose	5/5	OMIM:300895
9968	MED12	HP:0000414	Bulbous nose	HP:0040282	ORPHA:293707
9968	MED12	HP:0000411	Protruding ear	HP:0040283	ORPHA:776
9968	MED12	HP:0001744	Splenomegaly	1/4	OMIM:301068
9968	MED12	HP:0000431	Wide nasal bridge	5/5	OMIM:300895
9968	MED12	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:776
9968	MED12	HP:0000426	Prominent nasal bridge	-	OMIM:309520
9968	MED12	HP:0031766	Convergence excess esotropia	1/4	OMIM:301068
9968	MED12	HP:0005490	Postnatal macrocephaly	-	OMIM:305450
9968	MED12	HP:0012506	Small pituitary gland	HP:0040282	ORPHA:93932
9968	MED12	HP:0001845	Overlapping toe	1/5	OMIM:300895
9968	MED12	HP:0001837	Broad toe	HP:0040282	ORPHA:93932
9968	MED12	HP:0000508	Ptosis	2/7	OMIM:309520
9968	MED12	HP:0000508	Ptosis	5/5	OMIM:300895
9968	MED12	HP:0011266	Microtia, first degree	7/7	OMIM:305450
9968	MED12	HP:0000581	Blepharophimosis	5/5	OMIM:300895
9968	MED12	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:293707
9968	MED12	HP:0030353	Decreased serum insulin-like growth factor 1	1/4	OMIM:301068
9968	MED12	HP:0000580	Pigmentary retinopathy	4/4	OMIM:301068
9968	MED12	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:1415
9968	MED12	HP:0011220	Prominent forehead	9/10	OMIM:305450
9968	MED12	HP:0011220	Prominent forehead	1/5	OMIM:300895
9968	MED12	HP:0011220	Prominent forehead	-	OMIM:309520
9968	MED12	HP:0000568	Microphthalmia	3/5	OMIM:300895
9968	MED12	HP:0000540	Hypermetropia	2/5	OMIM:300895
9968	MED12	HP:0001873	Thrombocytopenia	1/4	OMIM:301068
9969	MED13	HP:0009921	Duane anomaly	2/13	OMIM:618009
9969	MED13	HP:0001252	Hypotonia	3/13	OMIM:618009
9969	MED13	HP:0001263	Global developmental delay	13/13	OMIM:618009
9969	MED13	HP:0000006	Autosomal dominant inheritance	-	OMIM:618009
9969	MED13	HP:0000154	Wide mouth	-	OMIM:618009
9969	MED13	HP:0002194	Delayed gross motor development	6/13	OMIM:618009
9969	MED13	HP:0007018	Attention deficit hyperactivity disorder	3/13	OMIM:618009
9969	MED13	HP:0000629	Periorbital fullness	-	OMIM:618009
9969	MED13	HP:0000664	Synophrys	-	OMIM:618009
9969	MED13	HP:0000750	Delayed speech and language development	13/13	OMIM:618009
9969	MED13	HP:0000729	Autistic behavior	5/13	OMIM:618009
9969	MED13	HP:0045025	Narrow palpebral fissure	-	OMIM:618009
9969	MED13	HP:0000219	Thin upper lip vermilion	-	OMIM:618009
9969	MED13	HP:0011098	Speech apraxia	3/13	OMIM:618009
9969	MED13	HP:0000319	Smooth philtrum	-	OMIM:618009
9969	MED13	HP:0000316	Hypertelorism	-	OMIM:618009
9969	MED13	HP:0011170	Generalized myoclonic-atonic seizure	1/13	OMIM:618009
9969	MED13	HP:0012450	Chronic constipation	4/13	OMIM:618009
9969	MED13	HP:0000431	Wide nasal bridge	-	OMIM:618009
9969	MED13	HP:0000426	Prominent nasal bridge	-	OMIM:618009
9971	NR1H4	HP:0001399	Hepatic failure	4/4	OMIM:617049
9971	NR1H4	HP:0001394	Cirrhosis	4/4	OMIM:617049
9971	NR1H4	HP:0000007	Autosomal recessive inheritance	-	OMIM:617049
9971	NR1H4	HP:0001337	Tremor	HP:0040284	ORPHA:69665
9971	NR1H4	HP:0002643	Neonatal respiratory distress	HP:0040283	ORPHA:69665
9971	NR1H4	HP:0012164	Asterixis	HP:0040284	ORPHA:69665
9971	NR1H4	HP:0006254	Elevated circulating alpha-fetoprotein concentration	4/4	OMIM:617049
9971	NR1H4	HP:0031248	Palmar pruritus	HP:0040283	ORPHA:69665
9971	NR1H4	HP:0002027	Abdominal pain	HP:0040284	ORPHA:69665
9971	NR1H4	HP:0030900	Pruritus on foot	HP:0040283	ORPHA:69665
9971	NR1H4	HP:0008151	Prolonged prothrombin time	4/4	OMIM:617049
9971	NR1H4	HP:0003593	Infantile onset	1/4	OMIM:617049
9971	NR1H4	HP:0003577	Congenital onset	1/4	OMIM:617049
9971	NR1H4	HP:0002202	Pleural effusion	1/4	OMIM:617049
9971	NR1H4	HP:0100785	Insomnia	HP:0040282	ORPHA:69665
9971	NR1H4	HP:0003678	Rapidly progressive	-	OMIM:617049
9971	NR1H4	HP:0100602	Preeclampsia	HP:0040283	ORPHA:69665
9971	NR1H4	HP:0025031	Abnormality of the digestive system	HP:0040282	ORPHA:69665
9971	NR1H4	HP:0001082	Cholecystitis	HP:0040284	ORPHA:69665
9971	NR1H4	HP:0003623	Neonatal onset	2/4	OMIM:617049
9971	NR1H4	HP:0001943	Hypoglycemia	3/4	OMIM:617049
9971	NR1H4	HP:0012689	Abnormal pineal melatonin secretion	HP:0040283	ORPHA:69665
9971	NR1H4	HP:0001987	Hyperammonemia	3/4	OMIM:617049
9971	NR1H4	HP:0031956	Elevated circulating aspartate aminotransferase concentration	4/4	OMIM:617049
9971	NR1H4	HP:0031964	Elevated circulating alanine aminotransferase concentration	4/4	OMIM:617049
9971	NR1H4	HP:0000716	Depression	HP:0040283	ORPHA:69665
9971	NR1H4	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040283	ORPHA:69665
9971	NR1H4	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:69665
9971	NR1H4	HP:0000989	Pruritus	HP:0040281	ORPHA:69665
9971	NR1H4	HP:0000988	Skin rash	-	ORPHA:69665
9971	NR1H4	HP:0000952	Jaundice	HP:0040284	ORPHA:69665
9971	NR1H4	HP:0000952	Jaundice	3/4	OMIM:617049
9971	NR1H4	HP:0012202	Increased serum bile acid concentration	HP:0040281	ORPHA:69665
9971	NR1H4	HP:0001522	Death in infancy	2/4	OMIM:617049
9971	NR1H4	HP:0001541	Ascites	1/4	OMIM:617049
9971	NR1H4	HP:0001541	Ascites	HP:0040284	ORPHA:69665
9971	NR1H4	HP:0001508	Failure to thrive	2/4	OMIM:617049
9971	NR1H4	HP:0001518	Small for gestational age	HP:0040284	ORPHA:69665
9971	NR1H4	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:69665
9971	NR1H4	HP:0002908	Conjugated hyperbilirubinemia	4/4	OMIM:617049
9971	NR1H4	HP:0002904	Hyperbilirubinemia	HP:0040283	ORPHA:69665
9971	NR1H4	HP:0002960	Autoimmunity	-	ORPHA:69665
9971	NR1H4	HP:0001622	Premature birth	HP:0040284	ORPHA:69665
9971	NR1H4	HP:0001732	Abnormality of the pancreas	HP:0040284	ORPHA:69665
9971	NR1H4	HP:0001790	Nonimmune hydrops fetalis	1/4	OMIM:617049
9971	NR1H4	HP:0011117	Abnormal circulating interleukin concentration	HP:0040283	ORPHA:69665
9971	NR1H4	HP:0012420	Meconium stained amniotic fluid	HP:0040283	ORPHA:69665
9984	THOC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620280
9984	THOC1	HP:0003581	Adult onset	15/15	OMIM:620280
9984	THOC1	HP:0011390	Abnormal inner ear morphology	0/1	OMIM:620280
9984	THOC1	HP:0000360	Tinnitus	15/15	OMIM:620280
9984	THOC1	HP:0000407	Sensorineural hearing impairment	15/15	OMIM:620280
9984	THOC1	HP:0001751	Abnormal vestibular function	0/15	OMIM:620280
9987	HNRNPDL	HP:0003749	Pelvic girdle muscle weakness	-	OMIM:609115
9987	HNRNPDL	HP:0001265	Hyporeflexia	-	OMIM:609115
9987	HNRNPDL	HP:0003829	Typified by incomplete penetrance	-	OMIM:609115
9987	HNRNPDL	HP:0003805	Rimmed vacuoles	-	OMIM:609115
9987	HNRNPDL	HP:0006203	Decreased movement range in interphalangeal joints	-	OMIM:609115
9987	HNRNPDL	HP:0000006	Autosomal dominant inheritance	-	OMIM:609115
9987	HNRNPDL	HP:0008948	Proximal upper limb amyotrophy	-	OMIM:609115
9987	HNRNPDL	HP:0008956	Proximal lower limb amyotrophy	-	OMIM:609115
9987	HNRNPDL	HP:0008116	Flexion limitation of toes	-	OMIM:609115
9987	HNRNPDL	HP:0003581	Adult onset	20/20	OMIM:609115
9987	HNRNPDL	HP:0003547	Shoulder girdle muscle weakness	-	OMIM:609115
9987	HNRNPDL	HP:0003677	Slowly progressive	-	OMIM:609115
9987	HNRNPDL	HP:0003198	Myopathy	-	OMIM:609115
9987	HNRNPDL	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:609115
9987	HNRNPDL	HP:0006785	Limb-girdle muscular dystrophy	-	OMIM:609115
9987	HNRNPDL	HP:0000518	Cataract	-	OMIM:609115
9990	SLC12A6	HP:0001182	Tapered finger	-	OMIM:218000
9990	SLC12A6	HP:0002410	Aqueductal stenosis	HP:0040282	ORPHA:1496
9990	SLC12A6	HP:0100807	Long fingers	-	OMIM:218000
9990	SLC12A6	HP:0001271	Polyneuropathy	-	OMIM:218000
9990	SLC12A6	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:1496
9990	SLC12A6	HP:0001274	Agenesis of corpus callosum	3/3	OMIM:218000
9990	SLC12A6	HP:0001270	Motor delay	3/3	OMIM:620068
9990	SLC12A6	HP:0001270	Motor delay	-	OMIM:218000
9990	SLC12A6	HP:0001284	Areflexia	1/1	OMIM:620068
9990	SLC12A6	HP:0001284	Areflexia	2/3	OMIM:218000
9990	SLC12A6	HP:0001256	Intellectual disability, mild	1/3	OMIM:218000
9990	SLC12A6	HP:0001250	Seizure	HP:0040281	ORPHA:1496
9990	SLC12A6	HP:0001250	Seizure	0/3	OMIM:620068
9990	SLC12A6	HP:0001250	Seizure	1/3	OMIM:218000
9990	SLC12A6	HP:0001252	Hypotonia	2/3	OMIM:218000
9990	SLC12A6	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1496
9990	SLC12A6	HP:0001249	Intellectual disability	0/3	OMIM:620068
9990	SLC12A6	HP:0001249	Intellectual disability	-	OMIM:218000
9990	SLC12A6	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1496
9990	SLC12A6	HP:0001263	Global developmental delay	3/3	OMIM:218000
9990	SLC12A6	HP:0001257	Spasticity	1/3	OMIM:620068
9990	SLC12A6	HP:0007340	Lower limb muscle weakness	1/1	OMIM:620068
9990	SLC12A6	HP:0002540	Inability to walk	1/3	OMIM:218000
9990	SLC12A6	HP:0001371	Flexion contracture	-	OMIM:218000
9990	SLC12A6	HP:0001349	Facial diplegia	1/3	OMIM:218000
9990	SLC12A6	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:1496
9990	SLC12A6	HP:0001324	Muscle weakness	1/1	OMIM:620068
9990	SLC12A6	HP:0001344	Absent speech	1/3	OMIM:218000
9990	SLC12A6	HP:0000007	Autosomal recessive inheritance	-	OMIM:218000
9990	SLC12A6	HP:0001337	Tremor	-	OMIM:218000
9990	SLC12A6	HP:0000006	Autosomal dominant inheritance	-	OMIM:620068
9990	SLC12A6	HP:0002650	Scoliosis	1/3	OMIM:620068
9990	SLC12A6	HP:0002650	Scoliosis	-	OMIM:218000
9990	SLC12A6	HP:0001319	Neonatal hypotonia	-	OMIM:218000
9990	SLC12A6	HP:0008997	Proximal muscle weakness in upper limbs	2/3	OMIM:620068
9990	SLC12A6	HP:0008954	Intrinsic hand muscle atrophy	1/1	OMIM:620068
9990	SLC12A6	HP:0008944	Distal lower limb amyotrophy	3/3	OMIM:620068
9990	SLC12A6	HP:0004691	2-3 toe syndactyly	-	OMIM:218000
9990	SLC12A6	HP:0002091	Restrictive ventilatory defect	-	OMIM:218000
9990	SLC12A6	HP:0003378	Axonal degeneration/regeneration	-	OMIM:218000
9990	SLC12A6	HP:0003383	Onion bulb formation	-	OMIM:218000
9990	SLC12A6	HP:0003477	Peripheral axonal neuropathy	-	OMIM:218000
9990	SLC12A6	HP:0002119	Ventriculomegaly	1/3	OMIM:218000
9990	SLC12A6	HP:0003448	Decreased sensory nerve conduction velocity	-	OMIM:218000
9990	SLC12A6	HP:0003447	Axonal loss	1/1	OMIM:620068
9990	SLC12A6	HP:0003431	Decreased motor nerve conduction velocity	1/1	OMIM:620068
9990	SLC12A6	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:218000
9990	SLC12A6	HP:0003444	EMG: chronic denervation signs	-	OMIM:218000
9990	SLC12A6	HP:0003593	Infantile onset	1/1	OMIM:620068
9990	SLC12A6	HP:0200085	Limb tremor	-	OMIM:218000
9990	SLC12A6	HP:0007002	Motor axonal neuropathy	1/1	OMIM:620068
9990	SLC12A6	HP:0011968	Feeding difficulties	1/3	OMIM:218000
9990	SLC12A6	HP:0011947	Respiratory tract infection	-	OMIM:218000
9990	SLC12A6	HP:0003690	Limb muscle weakness	-	OMIM:218000
9990	SLC12A6	HP:0002359	Frequent falls	1/1	OMIM:620068
9990	SLC12A6	HP:0003676	Progressive	3/3	OMIM:620068
9990	SLC12A6	HP:0003676	Progressive	-	OMIM:218000
9990	SLC12A6	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1496
9990	SLC12A6	HP:0007204	Diffuse white matter abnormalities	1/3	OMIM:218000
9990	SLC12A6	HP:0009830	Peripheral neuropathy	2/3	OMIM:218000
9990	SLC12A6	HP:0007149	Distal upper limb amyotrophy	1/3	OMIM:620068
9990	SLC12A6	HP:0007126	Proximal amyotrophy	1/1	OMIM:620068
9990	SLC12A6	HP:0007108	Demyelinating peripheral neuropathy	-	OMIM:218000
9990	SLC12A6	HP:0003623	Neonatal onset	1/1	OMIM:218000
9990	SLC12A6	HP:0007178	Motor polyneuropathy	-	OMIM:218000
9990	SLC12A6	HP:0000639	Nystagmus	HP:0040283	ORPHA:1496
9990	SLC12A6	HP:0009053	Distal lower limb muscle weakness	3/3	OMIM:620068
9990	SLC12A6	HP:0009027	Foot dorsiflexor weakness	1/1	OMIM:620068
9990	SLC12A6	HP:0006944	Abolished vibration sense	1/3	OMIM:620068
9990	SLC12A6	HP:0004374	Hemiplegia/hemiparesis	HP:0040281	ORPHA:1496
9990	SLC12A6	HP:0000763	Sensory neuropathy	-	OMIM:218000
9990	SLC12A6	HP:0000762	Decreased nerve conduction velocity	1/1	OMIM:218000
9990	SLC12A6	HP:0000709	Psychosis	-	OMIM:218000
9990	SLC12A6	HP:0011463	Childhood onset	3/3	OMIM:620068
9990	SLC12A6	HP:0003196	Short nose	1/3	OMIM:218000
9990	SLC12A6	HP:0040081	Abnormal circulating creatine kinase concentration	0/1	OMIM:620068
9990	SLC12A6	HP:0003202	Skeletal muscle atrophy	-	OMIM:218000
9990	SLC12A6	HP:0100297	Increased endomysial connective tissue	1/1	OMIM:620068
9990	SLC12A6	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:1496
9990	SLC12A6	HP:0000294	Low anterior hairline	-	OMIM:218000
9990	SLC12A6	HP:0000262	Turricephaly	HP:0040283	ORPHA:1496
9990	SLC12A6	HP:0000276	Long face	1/3	OMIM:218000
9990	SLC12A6	HP:0000252	Microcephaly	HP:0040281	ORPHA:1496
9990	SLC12A6	HP:0000248	Brachycephaly	-	OMIM:218000
9990	SLC12A6	HP:0000218	High palate	1/3	OMIM:218000
9990	SLC12A6	HP:0002922	Increased CSF protein concentration	1/1	OMIM:218000
9990	SLC12A6	HP:0000341	Narrow forehead	-	OMIM:218000
9990	SLC12A6	HP:0000316	Hypertelorism	1/3	OMIM:218000
9990	SLC12A6	HP:0000327	Hypoplasia of the maxilla	-	OMIM:218000
9990	SLC12A6	HP:0000324	Facial asymmetry	-	OMIM:218000
9990	SLC12A6	HP:0011182	Interictal epileptiform activity	4/5	OMIM:218000
9990	SLC12A6	HP:0000400	Macrotia	-	OMIM:218000
9990	SLC12A6	HP:0000486	Strabismus	HP:0040283	ORPHA:1496
9990	SLC12A6	HP:0001771	Achilles tendon contracture	2/3	OMIM:620068
9990	SLC12A6	HP:0000431	Wide nasal bridge	1/3	OMIM:218000
9990	SLC12A6	HP:0000508	Ptosis	1/3	OMIM:218000
9990	SLC12A6	HP:0000565	Esotropia	1/3	OMIM:218000
9990	SLC12A6	HP:0000545	Myopia	HP:0040283	ORPHA:1496
9992	KCNE2	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
9992	KCNE2	HP:0001279	Syncope	-	OMIM:613693
9992	KCNE2	HP:0001279	Syncope	HP:0040282	ORPHA:334
9992	KCNE2	HP:0001279	Syncope	HP:0040282	ORPHA:101016
9992	KCNE2	HP:0001250	Seizure	HP:0040283	ORPHA:101016
9992	KCNE2	HP:0000006	Autosomal dominant inheritance	-	OMIM:611493
9992	KCNE2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
9992	KCNE2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613693
9992	KCNE2	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
9992	KCNE2	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
9992	KCNE2	HP:0004757	Paroxysmal atrial fibrillation	3/10	OMIM:611493
9992	KCNE2	HP:0004754	Permanent atrial fibrillation	1/10	OMIM:611493
9992	KCNE2	HP:0003596	Middle age onset	3/4	OMIM:611493
9992	KCNE2	HP:0003584	Late onset	1/4	OMIM:611493
9992	KCNE2	HP:0003581	Adult onset	3/3	OMIM:613693
9992	KCNE2	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
9992	KCNE2	HP:0100749	Chest pain	HP:0040282	ORPHA:334
9992	KCNE2	HP:0002321	Vertigo	HP:0040282	ORPHA:334
9992	KCNE2	HP:0001962	Palpitations	HP:0040282	ORPHA:334
9992	KCNE2	HP:0001962	Palpitations	9/10	OMIM:611493
9992	KCNE2	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
9992	KCNE2	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
9992	KCNE2	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
9992	KCNE2	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
9992	KCNE2	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
9992	KCNE2	HP:0005110	Atrial fibrillation	9/9	OMIM:611493
9992	KCNE2	HP:0012378	Fatigue	HP:0040282	ORPHA:334
9992	KCNE2	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
9992	KCNE2	HP:0005184	Prolonged QTc interval	3/3	OMIM:613693
9992	KCNE2	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
9992	KCNE2	HP:0000365	Hearing impairment	-	ORPHA:101016
9992	KCNE2	HP:0001695	Cardiac arrest	2/3	OMIM:613693
9992	KCNE2	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
9992	KCNE2	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
9992	KCNE2	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
9992	KCNE2	HP:0001664	Torsade de pointes	1/46	OMIM:115000
9992	KCNE2	HP:0001664	Torsade de pointes	1/3	OMIM:613693
9992	KCNE2	HP:0001645	Sudden cardiac death	-	OMIM:613693
9992	KCNE2	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
9992	KCNE2	HP:0001645	Sudden cardiac death	-	OMIM:115000
9992	KCNE2	HP:0001663	Ventricular fibrillation	2/3	OMIM:613693
9992	KCNE2	HP:0001663	Ventricular fibrillation	-	OMIM:115000
9992	KCNE2	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
9992	KCNE2	HP:0001657	Prolonged QT interval	-	OMIM:613693
9992	KCNE2	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
9992	KCNE2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
9992	KCNE2	HP:0006699	Premature atrial contractions	10/10	OMIM:611493
9992	KCNE2	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
9993	DGCR2	HP:0001155	Abnormality of the hand	-	OMIM:192430
9993	DGCR2	HP:0001252	Hypotonia	29/38	OMIM:192430
9993	DGCR2	HP:0001249	Intellectual disability	31/38	OMIM:192430
9993	DGCR2	HP:0000023	Inguinal hernia	3/38	OMIM:192430
9993	DGCR2	HP:0000028	Cryptorchidism	3/38	OMIM:192430
9993	DGCR2	HP:0001328	Specific learning disability	-	OMIM:192430
9993	DGCR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:192430
9993	DGCR2	HP:0002627	Right aortic arch with mirror image branching	-	OMIM:192430
9993	DGCR2	HP:0000194	Open mouth	-	OMIM:192430
9993	DGCR2	HP:0000176	Submucous cleft hard palate	15/38	OMIM:192430
9993	DGCR2	HP:0000175	Cleft palate	7/38	OMIM:192430
9993	DGCR2	HP:0002719	Recurrent infections	-	OMIM:192430
9993	DGCR2	HP:0011840	Abnormality of T cell physiology	2/38	OMIM:192430
9993	DGCR2	HP:0011999	Paranoia	-	OMIM:192430
9993	DGCR2	HP:0004935	Pulmonary artery atresia	2/16	OMIM:192430
9993	DGCR2	HP:0000627	Posterior embryotoxon	-	OMIM:192430
9993	DGCR2	HP:0004322	Short stature	24/38	OMIM:192430
9993	DGCR2	HP:0000718	Aggressive behavior	-	OMIM:192430
9993	DGCR2	HP:0000712	Emotional lability	-	OMIM:192430
9993	DGCR2	HP:0012841	Retinal vascular tortuosity	-	OMIM:192430
9993	DGCR2	HP:0000829	Hypoparathyroidism	3/38	OMIM:192430
9993	DGCR2	HP:0011590	Double aortic arch	1/16	OMIM:192430
9993	DGCR2	HP:0011611	Interrupted aortic arch	2/16	OMIM:192430
9993	DGCR2	HP:0045025	Narrow palpebral fissure	-	OMIM:192430
9993	DGCR2	HP:0000278	Retrognathia	-	OMIM:192430
9993	DGCR2	HP:0000252	Microcephaly	-	OMIM:192430
9993	DGCR2	HP:0000220	Velopharyngeal insufficiency	38/38	OMIM:192430
9993	DGCR2	HP:0001537	Umbilical hernia	2/38	OMIM:192430
9993	DGCR2	HP:0000201	Pierre-Robin sequence	-	OMIM:192430
9993	DGCR2	HP:0006549	Unilateral primary pulmonary dysgenesis	-	OMIM:192430
9993	DGCR2	HP:0001611	Hypernasal speech	-	OMIM:192430
9993	DGCR2	HP:0002901	Hypocalcemia	5/38	OMIM:192430
9993	DGCR2	HP:0001629	Ventricular septal defect	-	OMIM:192430
9993	DGCR2	HP:0001636	Tetralogy of Fallot	3/16	OMIM:192430
9993	DGCR2	HP:0000414	Bulbous nose	-	OMIM:192430
9993	DGCR2	HP:0000430	Underdeveloped nasal alae	-	OMIM:192430
9993	DGCR2	HP:0000598	Abnormality of the ear	-	OMIM:192430
9993	DGCR2	HP:0000581	Blepharophimosis	-	OMIM:192430
9993	DGCR2	HP:0001883	Talipes	4/38	OMIM:192430
9997	SCO2	HP:0002495	Impaired vibratory sensation	2/4	OMIM:604377
9997	SCO2	HP:0002490	Increased CSF lactate	-	OMIM:220110
9997	SCO2	HP:0002490	Increased CSF lactate	3/3	OMIM:604377
9997	SCO2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
9997	SCO2	HP:0002451	Limb dystonia	4/6	OMIM:604377
9997	SCO2	HP:0007327	Mixed demyelinating and axonal polyneuropathy	1/1	OMIM:604377
9997	SCO2	HP:0002403	Positive Romberg sign	1/1	OMIM:604377
9997	SCO2	HP:0033526	Limited ankle dorsiflexion	1/1	OMIM:604377
9997	SCO2	HP:0001298	Encephalopathy	7/7	OMIM:604377
9997	SCO2	HP:0001290	Generalized hypotonia	11/11	OMIM:220110
9997	SCO2	HP:0001276	Hypertonia	1/1	OMIM:604377
9997	SCO2	HP:0001272	Cerebellar atrophy	3/5	OMIM:604377
9997	SCO2	HP:0001273	Abnormal corpus callosum morphology	1/1	OMIM:604377
9997	SCO2	HP:0001270	Motor delay	0/4	OMIM:608908
9997	SCO2	HP:0001270	Motor delay	HP:0040282	ORPHA:521411
9997	SCO2	HP:0001270	Motor delay	-	OMIM:220110
9997	SCO2	HP:0001284	Areflexia	3/3	OMIM:604377
9997	SCO2	HP:0001284	Areflexia	HP:0040282	ORPHA:521411
9997	SCO2	HP:0001254	Lethargy	1/3	OMIM:604377
9997	SCO2	HP:0001256	Intellectual disability, mild	1/2	OMIM:604377
9997	SCO2	HP:0001250	Seizure	0/6	OMIM:608908
9997	SCO2	HP:0001250	Seizure	4/5	OMIM:604377
9997	SCO2	HP:0001250	Seizure	-	OMIM:220110
9997	SCO2	HP:0001252	Hypotonia	0/4	OMIM:608908
9997	SCO2	HP:0001252	Hypotonia	20/23	OMIM:604377
9997	SCO2	HP:0001252	Hypotonia	2/2	OMIM:220110
9997	SCO2	HP:0001251	Ataxia	0/6	OMIM:608908
9997	SCO2	HP:0001251	Ataxia	2/2	OMIM:604377
9997	SCO2	HP:0001251	Ataxia	2/2	OMIM:220110
9997	SCO2	HP:0001249	Intellectual disability	0/6	OMIM:608908
9997	SCO2	HP:0001249	Intellectual disability	-	OMIM:220110
9997	SCO2	HP:0001265	Hyporeflexia	9/10	OMIM:604377
9997	SCO2	HP:0001260	Dysarthria	HP:0040282	ORPHA:521411
9997	SCO2	HP:0001260	Dysarthria	1/1	OMIM:604377
9997	SCO2	HP:0001263	Global developmental delay	13/14	OMIM:604377
9997	SCO2	HP:0001263	Global developmental delay	-	OMIM:220110
9997	SCO2	HP:0007340	Lower limb muscle weakness	2/3	OMIM:604377
9997	SCO2	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:521411
9997	SCO2	HP:0002518	Abnormal periventricular white matter morphology	1/1	OMIM:604377
9997	SCO2	HP:0002529	Neuronal loss in central nervous system	2/2	OMIM:604377
9997	SCO2	HP:0002509	Limb hypertonia	1/1	OMIM:604377
9997	SCO2	HP:0002505	Loss of ambulation	1/2	OMIM:604377
9997	SCO2	HP:0002500	Abnormal cerebral white matter morphology	1/1	OMIM:604377
9997	SCO2	HP:0003819	Death in childhood	2/2	OMIM:220110
9997	SCO2	HP:0000093	Proteinuria	-	OMIM:220110
9997	SCO2	HP:0012047	Hemeralopia	1/1	OMIM:604377
9997	SCO2	HP:0002683	Abnormal calvaria morphology	1/1	OMIM:604377
9997	SCO2	HP:0001349	Facial diplegia	HP:0040282	ORPHA:521411
9997	SCO2	HP:0001348	Brisk reflexes	11/11	OMIM:220110
9997	SCO2	HP:0001324	Muscle weakness	0/6	OMIM:608908
9997	SCO2	HP:0001324	Muscle weakness	3/3	OMIM:604377
9997	SCO2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
9997	SCO2	HP:0000007	Autosomal recessive inheritance	-	OMIM:604377
9997	SCO2	HP:0000007	Autosomal recessive inheritance	-	OMIM:220110
9997	SCO2	HP:0001337	Tremor	4/4	OMIM:604377
9997	SCO2	HP:0000006	Autosomal dominant inheritance	-	OMIM:608908
9997	SCO2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
9997	SCO2	HP:0001336	Myoclonus	1/1	OMIM:604377
9997	SCO2	HP:0001310	Dysmetria	1/1	OMIM:604377
9997	SCO2	HP:0012195	Irregular respiration	1/3	OMIM:604377
9997	SCO2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
9997	SCO2	HP:0007663	Reduced visual acuity	2/2	OMIM:608908
9997	SCO2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
9997	SCO2	HP:0008944	Distal lower limb amyotrophy	3/4	OMIM:604377
9997	SCO2	HP:0000124	Renal tubular dysfunction	-	OMIM:220110
9997	SCO2	HP:0002789	Tachypnea	1/1	OMIM:604377
9997	SCO2	HP:0001427	Mitochondrial inheritance	-	OMIM:220110
9997	SCO2	HP:0001410	Decreased liver function	-	OMIM:220110
9997	SCO2	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:220110
9997	SCO2	HP:0002747	Respiratory insufficiency due to muscle weakness	2/2	OMIM:604377
9997	SCO2	HP:0003355	Aminoaciduria	-	OMIM:220110
9997	SCO2	HP:0002098	Respiratory distress	-	OMIM:220110
9997	SCO2	HP:0002098	Respiratory distress	6/8	OMIM:604377
9997	SCO2	HP:0002094	Dyspnea	1/1	OMIM:604377
9997	SCO2	HP:0002066	Gait ataxia	2/2	OMIM:604377
9997	SCO2	HP:0002078	Truncal ataxia	11/11	OMIM:220110
9997	SCO2	HP:0002047	Malignant hyperthermia	3/3	OMIM:604377
9997	SCO2	HP:0003376	Steppage gait	2/2	OMIM:604377
9997	SCO2	HP:0003376	Steppage gait	HP:0040282	ORPHA:521411
9997	SCO2	HP:0002059	Cerebral atrophy	1/3	OMIM:604377
9997	SCO2	HP:0003477	Peripheral axonal neuropathy	2/2	OMIM:604377
9997	SCO2	HP:0002151	Increased circulating lactate concentration	-	OMIM:220110
9997	SCO2	HP:0002151	Increased circulating lactate concentration	9/10	OMIM:604377
9997	SCO2	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:521411
9997	SCO2	HP:0002120	Cerebral cortical atrophy	1/1	OMIM:604377
9997	SCO2	HP:0002119	Ventriculomegaly	1/3	OMIM:604377
9997	SCO2	HP:0003458	EMG: myopathic abnormalities	3/3	OMIM:604377
9997	SCO2	HP:0003444	EMG: chronic denervation signs	HP:0040282	ORPHA:521411
9997	SCO2	HP:0003438	Absent Achilles reflex	5/7	OMIM:604377
9997	SCO2	HP:0002188	Delayed CNS myelination	1/1	OMIM:604377
9997	SCO2	HP:0002194	Delayed gross motor development	3/4	OMIM:604377
9997	SCO2	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:521411
9997	SCO2	HP:0002171	Gliosis	3/3	OMIM:604377
9997	SCO2	HP:0003596	Middle age onset	1/1	OMIM:604377
9997	SCO2	HP:0003593	Infantile onset	16/22	OMIM:604377
9997	SCO2	HP:0003593	Infantile onset	2/2	OMIM:220110
9997	SCO2	HP:0003577	Congenital onset	9/15	OMIM:604377
9997	SCO2	HP:0002240	Hepatomegaly	-	OMIM:220110
9997	SCO2	HP:0002240	Hepatomegaly	4/5	OMIM:604377
9997	SCO2	HP:0003546	Exercise intolerance	-	OMIM:220110
9997	SCO2	HP:0004887	Respiratory failure requiring assisted ventilation	16/17	OMIM:604377
9997	SCO2	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:604377
9997	SCO2	HP:0003542	Increased circulating pyruvate concentration	1/3	OMIM:604377
9997	SCO2	HP:0200147	Neuronal loss in basal ganglia	-	OMIM:604377
9997	SCO2	HP:0008347	Decreased activity of mitochondrial complex IV	-	OMIM:604377
9997	SCO2	HP:0007002	Motor axonal neuropathy	2/2	OMIM:604377
9997	SCO2	HP:0011968	Feeding difficulties	3/5	OMIM:604377
9997	SCO2	HP:0032046	Focal cortical dysplasia	1/3	OMIM:604377
9997	SCO2	HP:0033399	Persistent fever	3/3	OMIM:604377
9997	SCO2	HP:0007089	Facial-lingual fasciculations	1/2	OMIM:604377
9997	SCO2	HP:0002380	Fasciculations	HP:0040282	ORPHA:521411
9997	SCO2	HP:0003693	Distal amyotrophy	2/2	OMIM:604377
9997	SCO2	HP:0002363	Abnormal brainstem morphology	1/1	OMIM:604377
9997	SCO2	HP:0002359	Frequent falls	3/4	OMIM:604377
9997	SCO2	HP:0002359	Frequent falls	HP:0040282	ORPHA:521411
9997	SCO2	HP:0003688	Cytochrome C oxidase-negative muscle fibers	9/9	OMIM:604377
9997	SCO2	HP:0003688	Cytochrome C oxidase-negative muscle fibers	15/15	OMIM:220110
9997	SCO2	HP:0002376	Developmental regression	13/13	OMIM:220110
9997	SCO2	HP:0002376	Developmental regression	1/1	OMIM:604377
9997	SCO2	HP:0002354	Memory impairment	1/1	OMIM:604377
9997	SCO2	HP:0002352	Leukoencephalopathy	-	OMIM:220110
9997	SCO2	HP:0003648	Lacticaciduria	1/1	OMIM:604377
9997	SCO2	HP:0007204	Diffuse white matter abnormalities	1/1	OMIM:604377
9997	SCO2	HP:0010836	Abnormal circulating copper concentration	HP:0040282	ORPHA:521411
9997	SCO2	HP:0009830	Peripheral neuropathy	4/4	OMIM:604377
9997	SCO2	HP:0001098	Abnormal fundus morphology	2/2	OMIM:608908
9997	SCO2	HP:0200049	Upper limb hypertonia	1/1	OMIM:604377
9997	SCO2	HP:0007141	Sensorimotor neuropathy	1/3	OMIM:604377
9997	SCO2	HP:0003623	Neonatal onset	3/4	OMIM:604377
9997	SCO2	HP:0002312	Clumsiness	HP:0040282	ORPHA:521411
9997	SCO2	HP:0003621	Juvenile onset	8/19	OMIM:180100
9997	SCO2	HP:0003621	Juvenile onset	2/4	OMIM:604377
9997	SCO2	HP:0007183	Focal T2 hyperintense basal ganglia lesion	1/1	OMIM:604377
9997	SCO2	HP:0007178	Motor polyneuropathy	HP:0040282	ORPHA:521411
9997	SCO2	HP:0006855	Cerebellar vermis atrophy	1/1	OMIM:604377
9997	SCO2	HP:0000639	Nystagmus	4/6	OMIM:604377
9997	SCO2	HP:0000648	Optic atrophy	2/2	OMIM:220110
9997	SCO2	HP:0001942	Metabolic acidosis	5/5	OMIM:604377
9997	SCO2	HP:0001903	Anemia	-	OMIM:220110
9997	SCO2	HP:0009055	Generalized limb muscle atrophy	HP:0040282	ORPHA:521411
9997	SCO2	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:521411
9997	SCO2	HP:0000662	Nyctalopia	26/28	OMIM:180100
9997	SCO2	HP:0001999	Abnormal facial shape	3/3	OMIM:604377
9997	SCO2	HP:0001994	Renal Fanconi syndrome	-	OMIM:220110
9997	SCO2	HP:0003076	Glycosuria	-	OMIM:220110
9997	SCO2	HP:0006999	Basal ganglia gliosis	1/1	OMIM:604377
9997	SCO2	HP:0012747	Abnormal brainstem MRI signal intensity	1/1	OMIM:604377
9997	SCO2	HP:0000750	Delayed speech and language development	1/2	OMIM:604377
9997	SCO2	HP:0000741	Apathy	1/1	OMIM:604377
9997	SCO2	HP:0011463	Childhood onset	2/2	OMIM:608908
9997	SCO2	HP:0011463	Childhood onset	3/19	OMIM:180100
9997	SCO2	HP:0011463	Childhood onset	3/4	OMIM:604377
9997	SCO2	HP:0011462	Young adult onset	8/19	OMIM:180100
9997	SCO2	HP:0009130	Hand muscle atrophy	1/1	OMIM:604377
9997	SCO2	HP:0003109	Hyperphosphaturia	-	OMIM:220110
9997	SCO2	HP:0003198	Myopathy	1/3	OMIM:604377
9997	SCO2	HP:0003128	Lactic acidosis	13/13	OMIM:220110
9997	SCO2	HP:0003128	Lactic acidosis	8/9	OMIM:604377
9997	SCO2	HP:0040081	Abnormal circulating creatine kinase concentration	1/3	OMIM:604377
9997	SCO2	HP:0040081	Abnormal circulating creatine kinase concentration	-	ORPHA:521411
9997	SCO2	HP:0003202	Skeletal muscle atrophy	0/6	OMIM:608908
9997	SCO2	HP:0010307	Stridor	1/1	OMIM:604377
9997	SCO2	HP:0000952	Jaundice	1/1	OMIM:604377
9997	SCO2	HP:0012240	Increased intramyocellular lipid droplets	-	OMIM:220110
9997	SCO2	HP:0000268	Dolichocephaly	1/3	OMIM:604377
9997	SCO2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
9997	SCO2	HP:0031318	Myofiber disarray	1/3	OMIM:604377
9997	SCO2	HP:0000252	Microcephaly	2/7	OMIM:604377
9997	SCO2	HP:0032653	Elevated lactate:pyruvate ratio	1/3	OMIM:604377
9997	SCO2	HP:0002878	Respiratory failure	2/2	OMIM:220110
9997	SCO2	HP:0002878	Respiratory failure	0/6	OMIM:608908
9997	SCO2	HP:0002878	Respiratory failure	10/11	OMIM:604377
9997	SCO2	HP:0000218	High palate	2/4	OMIM:604377
9997	SCO2	HP:0000218	High palate	-	OMIM:220110
9997	SCO2	HP:0002875	Exertional dyspnea	-	OMIM:220110
9997	SCO2	HP:0001522	Death in infancy	3/3	OMIM:604377
9997	SCO2	HP:0001508	Failure to thrive	0/6	OMIM:608908
9997	SCO2	HP:0001508	Failure to thrive	2/2	OMIM:604377
9997	SCO2	HP:0001508	Failure to thrive	2/2	OMIM:220110
9997	SCO2	HP:0001511	Intrauterine growth retardation	2/2	OMIM:604377
9997	SCO2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
9997	SCO2	HP:0007800	Increased axial length of the globe	2/2	OMIM:608908
9997	SCO2	HP:0006565	Increased hepatocellular lipid droplets	-	OMIM:220110
9997	SCO2	HP:0006543	Cardiorespiratory arrest	3/3	OMIM:604377
9997	SCO2	HP:0001605	Vocal cord paralysis	1/1	OMIM:604377
9997	SCO2	HP:0000365	Hearing impairment	0/6	OMIM:608908
9997	SCO2	HP:0000365	Hearing impairment	1/1	OMIM:604377
9997	SCO2	HP:0001695	Cardiac arrest	1/3	OMIM:604377
9997	SCO2	HP:0011003	High myopia	6/6	OMIM:608908
9997	SCO2	HP:0000369	Low-set ears	1/1	OMIM:604377
9997	SCO2	HP:0001667	Right ventricular hypertrophy	1/2	OMIM:604377
9997	SCO2	HP:0030148	Heart murmur	1/1	OMIM:604377
9997	SCO2	HP:0001662	Bradycardia	1/2	OMIM:604377
9997	SCO2	HP:0001640	Cardiomegaly	1/1	OMIM:604377
9997	SCO2	HP:0000308	Microretrognathia	1/1	OMIM:604377
9997	SCO2	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:220110
9997	SCO2	HP:0001639	Hypertrophic cardiomyopathy	18/22	OMIM:604377
9997	SCO2	HP:0001635	Congestive heart failure	0/6	OMIM:608908
9997	SCO2	HP:0001635	Congestive heart failure	4/5	OMIM:604377
9997	SCO2	HP:0001638	Cardiomyopathy	-	ORPHA:521411
9997	SCO2	HP:0007941	Limited extraocular movements	-	OMIM:604377
9997	SCO2	HP:0030319	Weakness of facial musculature	-	OMIM:220110
9997	SCO2	HP:0030319	Weakness of facial musculature	1/3	OMIM:604377
9997	SCO2	HP:0005348	Inspiratory stridor	7/9	OMIM:604377
9997	SCO2	HP:0000407	Sensorineural hearing impairment	-	OMIM:220110
9997	SCO2	HP:0005280	Depressed nasal bridge	1/3	OMIM:604377
9997	SCO2	HP:0000486	Strabismus	4/4	OMIM:604377
9997	SCO2	HP:0012444	Brain atrophy	8/10	OMIM:604377
9997	SCO2	HP:0001763	Pes planus	1/2	OMIM:604377
9997	SCO2	HP:0001763	Pes planus	HP:0040282	ORPHA:521411
9997	SCO2	HP:0000431	Wide nasal bridge	1/1	OMIM:604377
9997	SCO2	HP:0001761	Pes cavus	1/1	OMIM:604377
9997	SCO2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
9997	SCO2	HP:0000508	Ptosis	HP:0040282	ORPHA:521411
9997	SCO2	HP:0000508	Ptosis	3/4	OMIM:604377
9997	SCO2	HP:0000508	Ptosis	-	OMIM:220110
9997	SCO2	HP:0000505	Visual impairment	1/1	OMIM:604377
9997	SCO2	HP:0001800	Hypoplastic toenails	1/3	OMIM:604377
9997	SCO2	HP:0000597	Ophthalmoparesis	2/2	OMIM:220110
9997	SCO2	HP:0000580	Pigmentary retinopathy	-	OMIM:220110
9997	SCO2	HP:0000575	Scotoma	5/18	OMIM:180100
9997	SCO2	HP:0000577	Exotropia	1/3	OMIM:604377
9997	SCO2	HP:0000577	Exotropia	HP:0040282	ORPHA:521411
9997	SCO2	HP:0012514	Lower limb pain	1/1	OMIM:604377
9997	SCO2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
9997	SCO2	HP:0000545	Myopia	-	OMIM:180100
9997	SCO2	HP:0001875	Decreased total neutrophil count	1/1	OMIM:604377
10000	AKT3	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:83473
10000	AKT3	HP:0001162	Postaxial hand polydactyly	-	OMIM:615937
10000	AKT3	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:99802
10000	AKT3	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:99802
10000	AKT3	HP:0001269	Hemiparesis	HP:0040283	ORPHA:99802
10000	AKT3	HP:0001250	Seizure	HP:0040282	ORPHA:83473
10000	AKT3	HP:0001250	Seizure	HP:0040281	ORPHA:99802
10000	AKT3	HP:0001250	Seizure	HP:0040283	OMIM:615937
10000	AKT3	HP:0001249	Intellectual disability	-	OMIM:615937
10000	AKT3	HP:0001263	Global developmental delay	HP:0040282	ORPHA:99802
10000	AKT3	HP:0025373	Interictal EEG abnormality	HP:0040281	ORPHA:99802
10000	AKT3	HP:0001355	Megalencephaly	HP:0040281	ORPHA:83473
10000	AKT3	HP:0000006	Autosomal dominant inheritance	-	OMIM:615937
10000	AKT3	HP:0001336	Myoclonus	HP:0040283	ORPHA:99802
10000	AKT3	HP:0001302	Pachygyria	HP:0040283	ORPHA:99802
10000	AKT3	HP:0000160	Narrow mouth	HP:0040282	ORPHA:83473
10000	AKT3	HP:0100542	Abnormal localization of kidney	HP:0040282	ORPHA:83473
10000	AKT3	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:615937
10000	AKT3	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:99802
10000	AKT3	HP:0002119	Ventriculomegaly	-	OMIM:615937
10000	AKT3	HP:0002133	Status epilepticus	HP:0040283	ORPHA:99802
10000	AKT3	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:83473
10000	AKT3	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:99802
10000	AKT3	HP:0002126	Polymicrogyria	-	OMIM:615937
10000	AKT3	HP:0002171	Gliosis	HP:0040283	ORPHA:99802
10000	AKT3	HP:0002282	Gray matter heterotopia	HP:0040283	ORPHA:99802
10000	AKT3	HP:0032046	Focal cortical dysplasia	HP:0040282	ORPHA:99802
10000	AKT3	HP:0002392	EEG with polyspike wave complexes	HP:0040282	ORPHA:99802
10000	AKT3	HP:0007206	Hemimegalencephaly	20/20	OMIM:615937
10000	AKT3	HP:0007206	Hemimegalencephaly	HP:0040282	ORPHA:99802
10000	AKT3	HP:0010819	Atonic seizure	HP:0040283	ORPHA:99802
10000	AKT3	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:99802
10000	AKT3	HP:0000648	Optic atrophy	HP:0040283	ORPHA:99802
10000	AKT3	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:99802
10000	AKT3	HP:0012757	Abnormal neuron morphology	HP:0040283	ORPHA:99802
10000	AKT3	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:99802
10000	AKT3	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040281	ORPHA:99802
10000	AKT3	HP:0000974	Hyperextensible skin	-	OMIM:615937
10000	AKT3	HP:0000965	Cutis marmorata	-	OMIM:615937
10000	AKT3	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:99802
10000	AKT3	HP:0000256	Macrocephaly	HP:0040281	ORPHA:83473
10000	AKT3	HP:0000256	Macrocephaly	HP:0040283	ORPHA:99802
10000	AKT3	HP:0000256	Macrocephaly	-	OMIM:615937
10000	AKT3	HP:0000267	Cranial asymmetry	HP:0040282	ORPHA:99802
10000	AKT3	HP:0005105	Abnormal nasal morphology	HP:0040282	ORPHA:83473
10000	AKT3	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:83473
10000	AKT3	HP:0000238	Hydrocephalus	-	OMIM:615937
10000	AKT3	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:99802
10000	AKT3	HP:0012377	Hemianopia	HP:0040283	ORPHA:99802
10000	AKT3	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:83473
10000	AKT3	HP:0000348	High forehead	HP:0040282	ORPHA:83473
10000	AKT3	HP:0000316	Hypertelorism	HP:0040282	ORPHA:83473
10000	AKT3	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:83473
10000	AKT3	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:83473
10000	AKT3	HP:0011195	EEG with focal sharp slow waves	HP:0040282	ORPHA:99802
10000	AKT3	HP:0011193	EEG with focal spikes	HP:0040282	ORPHA:99802
10000	AKT3	HP:0011167	Focal tonic seizure	HP:0040283	ORPHA:99802
10000	AKT3	HP:0011153	Focal motor seizure	HP:0040282	ORPHA:99802
10000	AKT3	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:83473
10000	AKT3	HP:0000506	Telecanthus	HP:0040282	ORPHA:83473
10000	AKT3	HP:0011215	Hemihypsarrhythmia	HP:0040282	ORPHA:99802
10002	NR2E3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
10002	NR2E3	HP:0001133	Constriction of peripheral visual field	11/14	OMIM:611131
10002	NR2E3	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
10002	NR2E3	HP:0012047	Hemeralopia	-	OMIM:268100
10002	NR2E3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
10002	NR2E3	HP:0000007	Autosomal recessive inheritance	-	OMIM:611131
10002	NR2E3	HP:0000007	Autosomal recessive inheritance	-	OMIM:268100
10002	NR2E3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
10002	NR2E3	HP:0000006	Autosomal dominant inheritance	-	OMIM:611131
10002	NR2E3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:611131
10002	NR2E3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
10002	NR2E3	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
10002	NR2E3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
10002	NR2E3	HP:0007663	Reduced visual acuity	14/14	OMIM:611131
10002	NR2E3	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
10002	NR2E3	HP:0003621	Juvenile onset	8/19	OMIM:180100
10002	NR2E3	HP:0003621	Juvenile onset	12/13	OMIM:611131
10002	NR2E3	HP:0030502	Retinoschisis	-	OMIM:268100
10002	NR2E3	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
10002	NR2E3	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
10002	NR2E3	HP:0000642	Red-green dyschromatopsia	-	OMIM:611131
10002	NR2E3	HP:0000618	Blindness	HP:0040281	ORPHA:791
10002	NR2E3	HP:0000613	Photophobia	4/13	OMIM:611131
10002	NR2E3	HP:0000613	Photophobia	HP:0040281	ORPHA:791
10002	NR2E3	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
10002	NR2E3	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
10002	NR2E3	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
10002	NR2E3	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
10002	NR2E3	HP:0000662	Nyctalopia	-	OMIM:268100
10002	NR2E3	HP:0000662	Nyctalopia	26/28	OMIM:180100
10002	NR2E3	HP:0000662	Nyctalopia	14/14	OMIM:611131
10002	NR2E3	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
10002	NR2E3	HP:0100018	Nuclear cataract	2/14	OMIM:611131
10002	NR2E3	HP:0011463	Childhood onset	3/19	OMIM:180100
10002	NR2E3	HP:0011462	Young adult onset	8/19	OMIM:180100
10002	NR2E3	HP:0011462	Young adult onset	1/13	OMIM:611131
10002	NR2E3	HP:0030786	Photopsia	HP:0040283	ORPHA:791
10002	NR2E3	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
10002	NR2E3	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
10002	NR2E3	HP:0040049	Macular edema	-	OMIM:268100
10002	NR2E3	HP:0000969	Edema	-	OMIM:268100
10002	NR2E3	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
10002	NR2E3	HP:0008028	Cystoid macular degeneration	2/14	OMIM:611131
10002	NR2E3	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
10002	NR2E3	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
10002	NR2E3	HP:0007787	Posterior subcapsular cataract	6/14	OMIM:611131
10002	NR2E3	HP:0007773	Vitreoretinopathy	-	OMIM:268100
10002	NR2E3	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
10002	NR2E3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
10002	NR2E3	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
10002	NR2E3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
10002	NR2E3	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
10002	NR2E3	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
10002	NR2E3	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
10002	NR2E3	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
10002	NR2E3	HP:0000518	Cataract	-	OMIM:268100
10002	NR2E3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
10002	NR2E3	HP:0000510	Rod-cone dystrophy	14/14	OMIM:611131
10002	NR2E3	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
10002	NR2E3	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
10002	NR2E3	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
10002	NR2E3	HP:0000580	Pigmentary retinopathy	-	OMIM:268100
10002	NR2E3	HP:0000580	Pigmentary retinopathy	-	OMIM:611131
10002	NR2E3	HP:0000575	Scotoma	5/18	OMIM:180100
10002	NR2E3	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
10002	NR2E3	HP:0000550	Undetectable electroretinogram	-	OMIM:268100
10002	NR2E3	HP:0000552	Tritanomaly	-	OMIM:611131
10002	NR2E3	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
10002	NR2E3	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
10002	NR2E3	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
10002	NR2E3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
10002	NR2E3	HP:0000545	Myopia	-	OMIM:180100
10008	KCNE3	HP:0002486	Myotonia	-	ORPHA:681
10008	KCNE3	HP:0003752	Episodic flaccid weakness	HP:0040281	ORPHA:681
10008	KCNE3	HP:0001279	Syncope	HP:0040282	ORPHA:130
10008	KCNE3	HP:0000006	Autosomal dominant inheritance	-	OMIM:613119
10008	KCNE3	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:681
10008	KCNE3	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:681
10008	KCNE3	HP:0003394	Muscle spasm	HP:0040283	ORPHA:681
10008	KCNE3	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
10008	KCNE3	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
10008	KCNE3	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
10008	KCNE3	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
10008	KCNE3	HP:0008180	Mildly elevated creatine kinase	HP:0040281	ORPHA:681
10008	KCNE3	HP:0008153	Periodic hypokalemic paresis	HP:0040280	ORPHA:681
10008	KCNE3	HP:0003470	Paralysis	HP:0040281	ORPHA:681
10008	KCNE3	HP:0003457	EMG abnormality	HP:0040281	ORPHA:681
10008	KCNE3	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
10008	KCNE3	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
10008	KCNE3	HP:0008256	Adrenocortical adenoma	HP:0040284	ORPHA:681
10008	KCNE3	HP:0002203	Respiratory paralysis	HP:0040284	ORPHA:681
10008	KCNE3	HP:0011998	Postprandial hyperglycemia	HP:0040282	ORPHA:681
10008	KCNE3	HP:0003694	Late-onset proximal muscle weakness	HP:0040283	ORPHA:681
10008	KCNE3	HP:0009020	Exercise-induced muscle fatigue	HP:0040282	ORPHA:681
10008	KCNE3	HP:0004303	Abnormal muscle fiber morphology	HP:0040281	ORPHA:681
10008	KCNE3	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
10008	KCNE3	HP:0012726	Episodic hypokalemia	HP:0040280	ORPHA:681
10008	KCNE3	HP:0011675	Arrhythmia	HP:0040283	ORPHA:681
10008	KCNE3	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
10008	KCNE3	HP:0012251	ST segment elevation	4/4	OMIM:613119
10008	KCNE3	HP:0012240	Increased intramyocellular lipid droplets	HP:0040281	ORPHA:681
10008	KCNE3	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040284	ORPHA:681
10008	KCNE3	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
10008	KCNE3	HP:0001695	Cardiac arrest	-	OMIM:613119
10008	KCNE3	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
10008	KCNE3	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
10008	KCNE3	HP:0001663	Ventricular fibrillation	-	OMIM:613119
10008	KCNE3	HP:0006670	Impaired myocardial contractility	-	ORPHA:681
10008	KCNE3	HP:0012548	Fatty replacement of skeletal muscle	HP:0040283	ORPHA:681
10008	KCNE3	HP:0012531	Pain	HP:0040283	ORPHA:681
10011	SRA1	HP:0008734	Decreased testicular size	1/1	OMIM:146110
10011	SRA1	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
10011	SRA1	HP:0000054	Micropenis	1/1	OMIM:146110
10011	SRA1	HP:0000028	Cryptorchidism	-	OMIM:146110
10011	SRA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
10011	SRA1	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
10011	SRA1	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
10011	SRA1	HP:0003621	Juvenile onset	2/2	OMIM:146110
10011	SRA1	HP:0000771	Gynecomastia	0/1	OMIM:146110
10011	SRA1	HP:0000789	Infertility	HP:0040283	OMIM:146110
10011	SRA1	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
10011	SRA1	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
10013	HDAC6	HP:0001256	Intellectual disability, mild	-	OMIM:300863
10013	HDAC6	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:163966
10013	HDAC6	HP:0001249	Intellectual disability	HP:0040283	OMIM:300863
10013	HDAC6	HP:0006028	Metaphyseal cupping of metacarpals	HP:0040281	ORPHA:163966
10013	HDAC6	HP:0006028	Metaphyseal cupping of metacarpals	-	OMIM:300863
10013	HDAC6	HP:0006208	Metaphyseal cupping of proximal phalanges	-	OMIM:300863
10013	HDAC6	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:163966
10013	HDAC6	HP:0008905	Rhizomelia	-	OMIM:300863
10013	HDAC6	HP:0008905	Rhizomelia	HP:0040281	ORPHA:163966
10013	HDAC6	HP:0000154	Wide mouth	HP:0040283	ORPHA:163966
10013	HDAC6	HP:0001423	X-linked dominant inheritance	-	OMIM:300863
10013	HDAC6	HP:0002007	Frontal bossing	-	OMIM:300863
10013	HDAC6	HP:0002007	Frontal bossing	HP:0040281	ORPHA:163966
10013	HDAC6	HP:0008364	Abnormality of the calcaneus	HP:0040282	ORPHA:163966
10013	HDAC6	HP:0004279	Short palm	HP:0040281	ORPHA:163966
10013	HDAC6	HP:0004322	Short stature	-	OMIM:300863
10013	HDAC6	HP:0004322	Short stature	HP:0040281	ORPHA:163966
10013	HDAC6	HP:0004331	Decreased skull ossification	-	OMIM:300863
10013	HDAC6	HP:0003021	Metaphyseal cupping	-	OMIM:300863
10013	HDAC6	HP:0012789	Hypoplasia of the calcaneus	-	OMIM:300863
10013	HDAC6	HP:0003196	Short nose	-	OMIM:300863
10013	HDAC6	HP:0003196	Short nose	HP:0040281	ORPHA:163966
10013	HDAC6	HP:0000926	Platyspondyly	HP:0040281	ORPHA:163966
10013	HDAC6	HP:0000926	Platyspondyly	-	OMIM:300863
10013	HDAC6	HP:0000878	11 pairs of ribs	HP:0040283	OMIM:300863
10013	HDAC6	HP:0000883	Thin ribs	HP:0040282	ORPHA:163966
10013	HDAC6	HP:0000883	Thin ribs	-	OMIM:300863
10013	HDAC6	HP:0005871	Metaphyseal chondrodysplasia	HP:0040281	ORPHA:163966
10013	HDAC6	HP:0000962	Hyperkeratosis	HP:0040283	ORPHA:163966
10013	HDAC6	HP:0000256	Macrocephaly	-	OMIM:300863
10013	HDAC6	HP:0006402	Distal shortening of limbs	-	OMIM:300863
10013	HDAC6	HP:0000238	Hydrocephalus	-	OMIM:300863
10013	HDAC6	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:163966
10013	HDAC6	HP:0001522	Death in infancy	HP:0040282	ORPHA:163966
10013	HDAC6	HP:0002866	Hypoplastic iliac wing	HP:0040281	ORPHA:163966
10013	HDAC6	HP:0002866	Hypoplastic iliac wing	-	OMIM:300863
10013	HDAC6	HP:0001511	Intrauterine growth retardation	-	OMIM:300863
10013	HDAC6	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:163966
10013	HDAC6	HP:0000369	Low-set ears	HP:0040281	ORPHA:163966
10013	HDAC6	HP:0000369	Low-set ears	-	OMIM:300863
10013	HDAC6	HP:0000347	Micrognathia	HP:0040283	ORPHA:163966
10013	HDAC6	HP:0000322	Short philtrum	HP:0040283	ORPHA:163966
10013	HDAC6	HP:0000457	Depressed nasal ridge	-	OMIM:300863
10013	HDAC6	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:163966
10013	HDAC6	HP:0001773	Short foot	HP:0040281	ORPHA:163966
10013	HDAC6	HP:0000568	Microphthalmia	HP:0040281	ORPHA:163966
10013	HDAC6	HP:0000568	Microphthalmia	-	OMIM:300863
10015	PDCD6IP	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
10015	PDCD6IP	HP:0009879	Simplified gyral pattern	1/2	OMIM:620047
10015	PDCD6IP	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
10015	PDCD6IP	HP:0001250	Seizure	2/2	OMIM:620047
10015	PDCD6IP	HP:0001251	Ataxia	0/2	OMIM:620047
10015	PDCD6IP	HP:0001249	Intellectual disability	2/2	OMIM:620047
10015	PDCD6IP	HP:0001263	Global developmental delay	2/2	OMIM:620047
10015	PDCD6IP	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
10015	PDCD6IP	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
10015	PDCD6IP	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
10015	PDCD6IP	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
10015	PDCD6IP	HP:0012081	Enlarged cerebellum	1/2	OMIM:620047
10015	PDCD6IP	HP:0000007	Autosomal recessive inheritance	-	OMIM:620047
10015	PDCD6IP	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
10015	PDCD6IP	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
10015	PDCD6IP	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
10015	PDCD6IP	HP:0004719	Hyperechogenic kidneys	1/2	OMIM:620047
10015	PDCD6IP	HP:0003577	Congenital onset	2/2	OMIM:620047
10015	PDCD6IP	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
10015	PDCD6IP	HP:0005565	Reduced renal corticomedullary differentiation	1/2	OMIM:620047
10015	PDCD6IP	HP:0004322	Short stature	HP:0040281	ORPHA:2512
10015	PDCD6IP	HP:0000752	Hyperactivity	2/2	OMIM:620047
10015	PDCD6IP	HP:0000712	Emotional lability	2/2	OMIM:620047
10015	PDCD6IP	HP:0011451	Primary microcephaly	2/2	OMIM:620047
10015	PDCD6IP	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
10015	PDCD6IP	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
10015	PDCD6IP	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
10015	PDCD6IP	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
10015	PDCD6IP	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
10015	PDCD6IP	HP:0000348	High forehead	1/2	OMIM:620047
10015	PDCD6IP	HP:0000307	Pointed chin	1/2	OMIM:620047
10015	PDCD6IP	HP:0005326	Hypoplastic philtrum	1/2	OMIM:620047
10015	PDCD6IP	HP:0000486	Strabismus	2/2	OMIM:620047
10015	PDCD6IP	HP:0000490	Deeply set eye	2/2	OMIM:620047
10015	PDCD6IP	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
10015	PDCD6IP	HP:0000574	Thick eyebrow	2/2	OMIM:620047
10019	SH2B3	HP:0002488	Acute leukemia	HP:0040283	ORPHA:3318
10019	SH2B3	HP:0001342	Cerebral hemorrhage	-	OMIM:133100
10019	SH2B3	HP:0000006	Autosomal dominant inheritance	-	OMIM:133100
10019	SH2B3	HP:0000006	Autosomal dominant inheritance	-	OMIM:187950
10019	SH2B3	HP:0002641	Peripheral thrombosis	-	OMIM:133100
10019	SH2B3	HP:0012156	Hemophagocytosis	0/2	OMIM:254450
10019	SH2B3	HP:0001442	Typified by somatic mosaicism	-	OMIM:254450
10019	SH2B3	HP:0002076	Migraine	HP:0040282	ORPHA:3318
10019	SH2B3	HP:0100576	Amaurosis fugax	HP:0040281	ORPHA:3318
10019	SH2B3	HP:0008148	Impaired epinephrine-induced platelet aggregation	3/3	OMIM:187950
10019	SH2B3	HP:0011875	Abnormal platelet morphology	HP:0040281	ORPHA:3318
10019	SH2B3	HP:0003401	Paresthesia	HP:0040281	ORPHA:3318
10019	SH2B3	HP:0003593	Infantile onset	2/2	OMIM:254450
10019	SH2B3	HP:0002240	Hepatomegaly	2/2	OMIM:254450
10019	SH2B3	HP:0004866	Impaired ADP-induced platelet aggregation	3/3	OMIM:187950
10019	SH2B3	HP:0100785	Insomnia	HP:0040282	ORPHA:3318
10019	SH2B3	HP:0100749	Chest pain	HP:0040281	ORPHA:3318
10019	SH2B3	HP:0011974	Myelofibrosis	2/2	OMIM:254450
10019	SH2B3	HP:0011974	Myelofibrosis	HP:0040283	ORPHA:3318
10019	SH2B3	HP:0008320	Impaired collagen-induced platelet aggregation	3/3	OMIM:187950
10019	SH2B3	HP:0001050	Plethora	-	OMIM:133100
10019	SH2B3	HP:0002321	Vertigo	-	OMIM:133100
10019	SH2B3	HP:0002321	Vertigo	HP:0040282	ORPHA:3318
10019	SH2B3	HP:0002315	Headache	-	OMIM:133100
10019	SH2B3	HP:0002315	Headache	HP:0040282	ORPHA:3318
10019	SH2B3	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:3318
10019	SH2B3	HP:0100659	Abnormal cerebral vascular morphology	HP:0040281	ORPHA:3318
10019	SH2B3	HP:0032147	Erythromelalgia	HP:0040283	ORPHA:3318
10019	SH2B3	HP:0004936	Venous thrombosis	HP:0040281	ORPHA:3318
10019	SH2B3	HP:0005513	Increased megakaryocyte count	HP:0040281	ORPHA:3318
10019	SH2B3	HP:0005547	Myeloproliferative disorder	-	OMIM:254450
10019	SH2B3	HP:0005561	Abnormal bone marrow cell morphology	HP:0040281	ORPHA:3318
10019	SH2B3	HP:0001978	Extramedullary hematopoiesis	2/2	OMIM:254450
10019	SH2B3	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:3318
10019	SH2B3	HP:0001945	Fever	-	OMIM:254450
10019	SH2B3	HP:0001900	Increased circulating hemoglobin concentration	33/33	OMIM:133100
10019	SH2B3	HP:0003010	Prolonged bleeding time	HP:0040281	ORPHA:3318
10019	SH2B3	HP:0004420	Arterial thrombosis	HP:0040281	ORPHA:3318
10019	SH2B3	HP:0000822	Hypertension	-	OMIM:133100
10019	SH2B3	HP:0000980	Pallor	2/2	OMIM:254450
10019	SH2B3	HP:0000979	Purpura	-	OMIM:254450
10019	SH2B3	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:3318
10019	SH2B3	HP:0031388	Megakaryocyte nucleus hyperlobulation	HP:0040281	ORPHA:3318
10019	SH2B3	HP:0002875	Exertional dyspnea	-	OMIM:133100
10019	SH2B3	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:3318
10019	SH2B3	HP:0012378	Fatigue	-	OMIM:133100
10019	SH2B3	HP:0012378	Fatigue	HP:0040281	ORPHA:3318
10019	SH2B3	HP:0001658	Myocardial infarction	-	OMIM:133100
10019	SH2B3	HP:0001658	Myocardial infarction	HP:0040281	ORPHA:3318
10019	SH2B3	HP:0030243	Hepatic vein thrombosis	HP:0040283	ORPHA:3318
10019	SH2B3	HP:0001744	Splenomegaly	-	OMIM:133100
10019	SH2B3	HP:0001744	Splenomegaly	HP:0040282	ORPHA:3318
10019	SH2B3	HP:0001744	Splenomegaly	1/5	OMIM:187950
10019	SH2B3	HP:0001744	Splenomegaly	2/2	OMIM:254450
10019	SH2B3	HP:0000505	Visual impairment	HP:0040283	ORPHA:3318
10019	SH2B3	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:3318
10019	SH2B3	HP:0001894	Thrombocytosis	9/9	OMIM:187950
10019	SH2B3	HP:0001894	Thrombocytosis	HP:0040281	ORPHA:3318
10019	SH2B3	HP:0001899	Increased hematocrit	33/33	OMIM:133100
10019	SH2B3	HP:0001898	Increased red blood cell mass	-	OMIM:133100
10019	SH2B3	HP:0001872	Abnormality of thrombocytes	HP:0040281	ORPHA:3318
10020	GNE	HP:0002487	Hyperkinetic movements	HP:0040281	ORPHA:3166
10020	GNE	HP:0003791	Deposits immunoreactive to beta-amyloid protein	-	OMIM:605820
10020	GNE	HP:0002460	Distal muscle weakness	-	OMIM:605820
10020	GNE	HP:0002474	Expressive language delay	HP:0040281	ORPHA:3166
10020	GNE	HP:0410156	Increased level of N-acetylneuraminic acid in urine	1/1	OMIM:269921
10020	GNE	HP:0007210	Lower limb amyotrophy	HP:0040283	ORPHA:602
10020	GNE	HP:0003731	Quadriceps muscle weakness	-	ORPHA:602
10020	GNE	HP:0003724	Shoulder girdle muscle atrophy	HP:0040283	ORPHA:602
10020	GNE	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:3166
10020	GNE	HP:0001288	Gait disturbance	-	OMIM:605820
10020	GNE	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:3166
10020	GNE	HP:0001256	Intellectual disability, mild	1/3	OMIM:269921
10020	GNE	HP:0001250	Seizure	HP:0040281	ORPHA:3166
10020	GNE	HP:0001250	Seizure	-	OMIM:269921
10020	GNE	HP:0001263	Global developmental delay	HP:0040283	ORPHA:3166
10020	GNE	HP:0001263	Global developmental delay	1/3	OMIM:269921
10020	GNE	HP:0002557	Hypoplastic nipples	-	OMIM:269921
10020	GNE	HP:0002574	Episodic abdominal pain	HP:0040281	ORPHA:3166
10020	GNE	HP:0007340	Lower limb muscle weakness	HP:0040281	ORPHA:602
10020	GNE	HP:0003805	Rimmed vacuoles	-	OMIM:605820
10020	GNE	HP:0003805	Rimmed vacuoles	HP:0040281	ORPHA:602
10020	GNE	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:3166
10020	GNE	HP:0000023	Inguinal hernia	-	OMIM:269921
10020	GNE	HP:0001324	Muscle weakness	HP:0040283	ORPHA:602
10020	GNE	HP:0000007	Autosomal recessive inheritance	-	OMIM:605820
10020	GNE	HP:0000007	Autosomal recessive inheritance	-	OMIM:620757
10020	GNE	HP:0000006	Autosomal dominant inheritance	-	OMIM:269921
10020	GNE	HP:0002650	Scoliosis	-	OMIM:269921
10020	GNE	HP:0000158	Macroglossia	1/3	OMIM:269921
10020	GNE	HP:0008963	Tibialis muscle weakness	HP:0040281	ORPHA:602
10020	GNE	HP:0002705	High, narrow palate	HP:0040281	ORPHA:3166
10020	GNE	HP:0006251	Limited wrist extension	HP:0040282	ORPHA:602
10020	GNE	HP:0002781	Upper airway obstruction	HP:0040281	ORPHA:3166
10020	GNE	HP:0012103	Abnormality of the mitochondrion	HP:0040281	ORPHA:3166
10020	GNE	HP:0000132	Menorrhagia	5/5	OMIM:620757
10020	GNE	HP:0001433	Hepatosplenomegaly	HP:0040281	ORPHA:3166
10020	GNE	HP:0001436	Abnormality of the foot musculature	HP:0040283	ORPHA:602
10020	GNE	HP:0004691	2-3 toe syndactyly	-	OMIM:269921
10020	GNE	HP:0004691	2-3 toe syndactyly	HP:0040281	ORPHA:3166
10020	GNE	HP:0002007	Frontal bossing	-	OMIM:269921
10020	GNE	HP:0003376	Steppage gait	HP:0040282	ORPHA:602
10020	GNE	HP:0008180	Mildly elevated creatine kinase	HP:0040281	ORPHA:602
10020	GNE	HP:0008151	Prolonged prothrombin time	HP:0040281	ORPHA:3166
10020	GNE	HP:0003458	EMG: myopathic abnormalities	-	OMIM:605820
10020	GNE	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:602
10020	GNE	HP:0003438	Absent Achilles reflex	HP:0040282	ORPHA:602
10020	GNE	HP:0002162	Low posterior hairline	-	OMIM:269921
10020	GNE	HP:0011877	Increased mean platelet volume	12/12	OMIM:620757
10020	GNE	HP:0010535	Sleep apnea	-	OMIM:269921
10020	GNE	HP:0010535	Sleep apnea	HP:0040281	ORPHA:3166
10020	GNE	HP:0003593	Infantile onset	2/2	OMIM:269921
10020	GNE	HP:0003577	Congenital onset	2/2	OMIM:620757
10020	GNE	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:3166
10020	GNE	HP:0002240	Hepatomegaly	3/3	OMIM:269921
10020	GNE	HP:0003581	Adult onset	-	OMIM:605820
10020	GNE	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:602
10020	GNE	HP:0002230	Generalized hirsutism	-	OMIM:269921
10020	GNE	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:602
10020	GNE	HP:0007010	Poor fine motor coordination	1/3	OMIM:269921
10020	GNE	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:269921
10020	GNE	HP:0007018	Attention deficit hyperactivity disorder	HP:0040281	ORPHA:3166
10020	GNE	HP:0010628	Facial palsy	HP:0040283	ORPHA:602
10020	GNE	HP:0003693	Distal amyotrophy	-	OMIM:605820
10020	GNE	HP:0003691	Scapular winging	HP:0040283	ORPHA:602
10020	GNE	HP:0001007	Hirsutism	1/3	OMIM:269921
10020	GNE	HP:0002354	Memory impairment	HP:0040281	ORPHA:3166
10020	GNE	HP:0003645	Prolonged partial thromboplastin time	HP:0040281	ORPHA:3166
10020	GNE	HP:0001081	Cholelithiasis	HP:0040281	ORPHA:3166
10020	GNE	HP:0008443	Neuropathic spinal arthropathy	HP:0040281	ORPHA:3166
10020	GNE	HP:0005513	Increased megakaryocyte count	3/5	OMIM:620757
10020	GNE	HP:0009077	Weakness of long finger extensor muscles	HP:0040284	ORPHA:602
10020	GNE	HP:0034016	Anti-HLA antibody positivity	0/2	OMIM:620757
10020	GNE	HP:0000629	Periorbital fullness	-	OMIM:269921
10020	GNE	HP:0000629	Periorbital fullness	HP:0040281	ORPHA:3166
10020	GNE	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:3166
10020	GNE	HP:0009053	Distal lower limb muscle weakness	6/9	OMIM:605820
10020	GNE	HP:0009027	Foot dorsiflexor weakness	HP:0040281	ORPHA:602
10020	GNE	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:3166
10020	GNE	HP:0000664	Synophrys	-	OMIM:269921
10020	GNE	HP:0011463	Childhood onset	1/1	OMIM:620757
10020	GNE	HP:0004406	Spontaneous, recurrent epistaxis	1/1	OMIM:620757
10020	GNE	HP:0000821	Hypothyroidism	HP:0040282	ORPHA:602
10020	GNE	HP:0040047	Abnormal right hemidiaphragm morphology	HP:0040283	ORPHA:602
10020	GNE	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:605820
10020	GNE	HP:0003202	Skeletal muscle atrophy	0/9	OMIM:620757
10020	GNE	HP:4000170	Anti-platelet antigen antibody positivity	0/2	OMIM:620757
10020	GNE	HP:0000978	Bruising susceptibility	9/9	OMIM:620757
10020	GNE	HP:0100284	EMG: myotonic discharges	HP:0040282	ORPHA:602
10020	GNE	HP:0000967	Petechiae	2/2	OMIM:620757
10020	GNE	HP:0000943	Dysostosis multiplex	HP:0040281	ORPHA:3166
10020	GNE	HP:0100299	Muscle fiber inclusion bodies	HP:0040281	ORPHA:602
10020	GNE	HP:0000286	Epicanthus	HP:0040281	ORPHA:3166
10020	GNE	HP:0000286	Epicanthus	-	OMIM:269921
10020	GNE	HP:0000280	Coarse facial features	2/3	OMIM:269921
10020	GNE	HP:0000280	Coarse facial features	HP:0040281	ORPHA:3166
10020	GNE	HP:0000256	Macrocephaly	1/3	OMIM:269921
10020	GNE	HP:0006467	Limited shoulder movement	HP:0040282	ORPHA:602
10020	GNE	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:3166
10020	GNE	HP:0000219	Thin upper lip vermilion	-	OMIM:269921
10020	GNE	HP:0000218	High palate	-	OMIM:269921
10020	GNE	HP:0030007	EMG: positive sharp waves	HP:0040282	ORPHA:602
10020	GNE	HP:0001538	Protuberant abdomen	-	OMIM:269921
10020	GNE	HP:0001507	Growth abnormality	0/3	OMIM:269921
10020	GNE	HP:0005257	Thoracic hypoplasia	-	OMIM:269921
10020	GNE	HP:0001609	Hoarse voice	HP:0040281	ORPHA:3166
10020	GNE	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:3166
10020	GNE	HP:0000369	Low-set ears	HP:0040281	ORPHA:3166
10020	GNE	HP:0000369	Low-set ears	-	OMIM:269921
10020	GNE	HP:0000343	Long philtrum	-	OMIM:269921
10020	GNE	HP:0000319	Smooth philtrum	-	OMIM:269921
10020	GNE	HP:0000319	Smooth philtrum	HP:0040281	ORPHA:3166
10020	GNE	HP:0000316	Hypertelorism	HP:0040281	ORPHA:3166
10020	GNE	HP:0000316	Hypertelorism	-	OMIM:269921
10020	GNE	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:602
10020	GNE	HP:0001744	Splenomegaly	1/3	OMIM:269921
10020	GNE	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:3166
10020	GNE	HP:0000431	Wide nasal bridge	-	OMIM:269921
10020	GNE	HP:0000421	Epistaxis	6/11	OMIM:620757
10020	GNE	HP:0001847	Long hallux	-	OMIM:269921
10020	GNE	HP:0001847	Long hallux	HP:0040281	ORPHA:3166
10020	GNE	HP:0012548	Fatty replacement of skeletal muscle	HP:0040281	ORPHA:602
10020	GNE	HP:0011220	Prominent forehead	-	OMIM:269921
10020	GNE	HP:0011220	Prominent forehead	HP:0040281	ORPHA:3166
10020	GNE	HP:0012515	Hip flexor weakness	HP:0040282	ORPHA:602
10020	GNE	HP:0001873	Thrombocytopenia	14/14	OMIM:620757
10021	HCN4	HP:0010872	T-wave inversion	1/1	OMIM:163800
10021	HCN4	HP:0001279	Syncope	5/6	OMIM:163800
10021	HCN4	HP:0001279	Syncope	HP:0040282	ORPHA:130
10021	HCN4	HP:0001256	Intellectual disability, mild	1/2	OMIM:619521
10021	HCN4	HP:0000006	Autosomal dominant inheritance	-	OMIM:619521
10021	HCN4	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
10021	HCN4	HP:0000006	Autosomal dominant inheritance	-	OMIM:163800
10021	HCN4	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
10021	HCN4	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
10021	HCN4	HP:0011712	Complete right bundle branch block	1/1	OMIM:613123
10021	HCN4	HP:0011704	Sick sinus syndrome	1/1	OMIM:163800
10021	HCN4	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
10021	HCN4	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
10021	HCN4	HP:0011705	First degree atrioventricular block	1/1	OMIM:163800
10021	HCN4	HP:0004757	Paroxysmal atrial fibrillation	2/2	OMIM:163800
10021	HCN4	HP:0004756	Ventricular tachycardia	1/1	OMIM:613123
10021	HCN4	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
10021	HCN4	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
10021	HCN4	HP:0003593	Infantile onset	2/2	OMIM:619521
10021	HCN4	HP:0003577	Congenital onset	-	OMIM:163800
10021	HCN4	HP:0003584	Late onset	1/1	OMIM:163800
10021	HCN4	HP:0003581	Adult onset	1/1	OMIM:163800
10021	HCN4	HP:0003621	Juvenile onset	7/7	OMIM:163800
10021	HCN4	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
10021	HCN4	HP:0030682	Left ventricular noncompaction	6/14	OMIM:163800
10021	HCN4	HP:0000750	Delayed speech and language development	2/2	OMIM:619521
10021	HCN4	HP:0011463	Childhood onset	1/1	OMIM:163800
10021	HCN4	HP:0011462	Young adult onset	1/1	OMIM:163800
10021	HCN4	HP:0034306	Ventricular bigeminy	1/1	OMIM:163800
10021	HCN4	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
10021	HCN4	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
10021	HCN4	HP:0012251	ST segment elevation	1/1	OMIM:613123
10021	HCN4	HP:0005110	Atrial fibrillation	-	OMIM:163800
10021	HCN4	HP:0033992	Chronotropic incompetence	1/1	OMIM:163800
10021	HCN4	HP:0005184	Prolonged QTc interval	1/8	OMIM:163800
10021	HCN4	HP:0001695	Cardiac arrest	1/1	OMIM:163800
10021	HCN4	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
10021	HCN4	HP:0001688	Sinus bradycardia	13/13	OMIM:163800
10021	HCN4	HP:0001664	Torsade de pointes	1/1	OMIM:163800
10021	HCN4	HP:0001664	Torsade de pointes	1/46	OMIM:115000
10021	HCN4	HP:0032794	Myoclonic seizure	2/2	OMIM:619521
10021	HCN4	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
10021	HCN4	HP:0001645	Sudden cardiac death	0/7	OMIM:163800
10021	HCN4	HP:0001645	Sudden cardiac death	-	OMIM:115000
10021	HCN4	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
10021	HCN4	HP:0001663	Ventricular fibrillation	1/1	OMIM:163800
10021	HCN4	HP:0001663	Ventricular fibrillation	-	OMIM:115000
10021	HCN4	HP:0001662	Bradycardia	2/2	OMIM:619521
10021	HCN4	HP:0001659	Aortic regurgitation	HP:0040283	OMIM:163800
10021	HCN4	HP:0001634	Mitral valve prolapse	6/14	OMIM:163800
10021	HCN4	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
10021	HCN4	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
10021	HCN4	HP:0001712	Left ventricular hypertrophy	HP:0040283	OMIM:163800
10021	HCN4	HP:0031547	Abnormal QT interval	0/1	OMIM:163800
10021	HCN4	HP:0025708	Early young adult onset	1/1	OMIM:163800
10021	HCN4	HP:0031677	Polymorphic ventricular tachycardia	1/1	OMIM:163800
10026	PIGK	HP:0001156	Brachydactyly	-	OMIM:618879
10026	PIGK	HP:0008593	Prominent antitragus	-	OMIM:618879
10026	PIGK	HP:0009890	High anterior hairline	-	OMIM:618879
10026	PIGK	HP:0001290	Generalized hypotonia	12/12	OMIM:618879
10026	PIGK	HP:0001272	Cerebellar atrophy	10/12	OMIM:618879
10026	PIGK	HP:0001250	Seizure	4/8	OMIM:618879
10026	PIGK	HP:0001251	Ataxia	5/12	OMIM:618879
10026	PIGK	HP:0001263	Global developmental delay	12/12	OMIM:618879
10026	PIGK	HP:0000007	Autosomal recessive inheritance	-	OMIM:618879
10026	PIGK	HP:0003593	Infantile onset	-	OMIM:618879
10026	PIGK	HP:0000678	Dental crowding	-	OMIM:618879
10026	PIGK	HP:0003155	Elevated circulating alkaline phosphatase concentration	0/10	OMIM:618879
10026	PIGK	HP:0003282	Decreased circulating alkaline phosphatase activity	2/10	OMIM:618879
10026	PIGK	HP:0000276	Long face	-	OMIM:618879
10026	PIGK	HP:0000219	Thin upper lip vermilion	-	OMIM:618879
10026	PIGK	HP:0005338	Sparse lateral eyebrow	-	OMIM:618879
10026	PIGK	HP:0011220	Prominent forehead	-	OMIM:618879
10026	PIGK	HP:0041048	Decreased expression of GPI-anchored proteins on the cell surface	-	OMIM:618879
10043	TOM1	HP:0032218	Decreased proportion of CD4-positive T cells	1/2	OMIM:619510
10043	TOM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619510
10043	TOM1	HP:0002720	Decreased circulating IgA concentration	2/2	OMIM:619510
10043	TOM1	HP:0002028	Chronic diarrhea	2/2	OMIM:619510
10043	TOM1	HP:0040313	Oligoarthritis	1/2	OMIM:619510
10043	TOM1	HP:0002013	Vomiting	2/2	OMIM:619510
10043	TOM1	HP:0003593	Infantile onset	1/2	OMIM:619510
10043	TOM1	HP:0002205	Recurrent respiratory infections	2/2	OMIM:619510
10043	TOM1	HP:0002206	Pulmonary fibrosis	1/2	OMIM:619510
10043	TOM1	HP:0020072	Persistent EBV viremia	1/2	OMIM:619510
10043	TOM1	HP:0001019	Erythroderma	1/2	OMIM:619510
10043	TOM1	HP:0033454	Tube feeding	1/2	OMIM:619510
10043	TOM1	HP:0003621	Juvenile onset	1/2	OMIM:619510
10043	TOM1	HP:0004315	Decreased circulating IgG concentration	1/1	OMIM:619510
10043	TOM1	HP:0011473	Villous atrophy	1/2	OMIM:619510
10043	TOM1	HP:0040218	Reduced total natural killer cell count	2/2	OMIM:619510
10043	TOM1	HP:0000964	Eczematoid dermatitis	2/2	OMIM:619510
10043	TOM1	HP:0001531	Failure to thrive in infancy	1/2	OMIM:619510
10043	TOM1	HP:0002850	Decreased circulating total IgM	2/2	OMIM:619510
10043	TOM1	HP:0001510	Growth delay	2/2	OMIM:619510
10043	TOM1	HP:0005403	Decreased total T cell count	1/2	OMIM:619510
10043	TOM1	HP:0005479	Decreased circulating IgE concentration	1/2	OMIM:619510
10043	TOM1	HP:0030374	Decreased proportion of memory B cells	-	OMIM:619510
10043	TOM1	HP:0001888	Decreased total lymphocyte count	1/2	OMIM:619510
10046	MAMLD1	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:456328
10046	MAMLD1	HP:0008722	Urethral diverticulum	HP:0040284	ORPHA:95706
10046	MAMLD1	HP:0000054	Micropenis	HP:0040282	ORPHA:456328
10046	MAMLD1	HP:0000054	Micropenis	HP:0040283	ORPHA:95706
10046	MAMLD1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:456328
10046	MAMLD1	HP:0000048	Bifid scrotum	HP:0040282	ORPHA:456328
10046	MAMLD1	HP:0000048	Bifid scrotum	HP:0040283	ORPHA:95706
10046	MAMLD1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:456328
10046	MAMLD1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:95706
10046	MAMLD1	HP:0000175	Cleft palate	HP:0040283	ORPHA:95706
10046	MAMLD1	HP:0001419	X-linked recessive inheritance	-	OMIM:300758
10046	MAMLD1	HP:0002023	Anal atresia	HP:0040283	ORPHA:95706
10046	MAMLD1	HP:0002032	Esophageal atresia	HP:0040283	ORPHA:95706
10046	MAMLD1	HP:0040314	Blind vagina	HP:0040282	ORPHA:456328
10046	MAMLD1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:456328
10046	MAMLD1	HP:0008226	Androgen insufficiency	HP:0040283	ORPHA:95706
10046	MAMLD1	HP:0003577	Congenital onset	4/4	OMIM:300758
10046	MAMLD1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:456328
10046	MAMLD1	HP:0100627	Displacement of the urethral meatus	HP:0040281	ORPHA:95706
10046	MAMLD1	HP:0000808	Penoscrotal hypospadias	HP:0040282	ORPHA:456328
10046	MAMLD1	HP:0000808	Penoscrotal hypospadias	4/4	OMIM:300758
10046	MAMLD1	HP:0000807	Glanular hypospadias	HP:0040282	ORPHA:456328
10046	MAMLD1	HP:0000739	Anxiety	HP:0040283	ORPHA:95706
10046	MAMLD1	HP:0000716	Depression	HP:0040283	ORPHA:95706
10046	MAMLD1	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:95706
10046	MAMLD1	HP:0000883	Thin ribs	HP:0040283	ORPHA:456328
10046	MAMLD1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:95706
10046	MAMLD1	HP:0003244	Penile hypospadias	HP:0040282	ORPHA:456328
10046	MAMLD1	HP:0000278	Retrognathia	HP:0040283	ORPHA:456328
10046	MAMLD1	HP:0000218	High palate	HP:0040283	ORPHA:456328
10046	MAMLD1	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:456328
10046	MAMLD1	HP:0001539	Omphalocele	HP:0040283	ORPHA:95706
10046	MAMLD1	HP:0001518	Small for gestational age	HP:0040284	ORPHA:95706
10046	MAMLD1	HP:0012435	Ventral shortening of foreskin	HP:0040282	ORPHA:95706
10049	DNAJB6	HP:0003749	Pelvic girdle muscle weakness	-	OMIM:603511
10049	DNAJB6	HP:0003715	Myofibrillar myopathy	HP:0040283	ORPHA:34516
10049	DNAJB6	HP:0001283	Bulbar palsy	HP:0040283	OMIM:603511
10049	DNAJB6	HP:0001260	Dysarthria	HP:0040282	ORPHA:34516
10049	DNAJB6	HP:0002515	Waddling gait	4/9	OMIM:603511
10049	DNAJB6	HP:0002505	Loss of ambulation	5/9	OMIM:603511
10049	DNAJB6	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:34516
10049	DNAJB6	HP:0003805	Rimmed vacuoles	1/1	OMIM:603511
10049	DNAJB6	HP:0003805	Rimmed vacuoles	HP:0040283	ORPHA:34516
10049	DNAJB6	HP:0001371	Flexion contracture	HP:0040283	OMIM:603511
10049	DNAJB6	HP:0000006	Autosomal dominant inheritance	-	OMIM:603511
10049	DNAJB6	HP:0003326	Myalgia	1/9	OMIM:603511
10049	DNAJB6	HP:0002015	Dysphagia	HP:0040282	ORPHA:34516
10049	DNAJB6	HP:0002015	Dysphagia	-	OMIM:603511
10049	DNAJB6	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:34516
10049	DNAJB6	HP:0002094	Dyspnea	HP:0040283	OMIM:603511
10049	DNAJB6	HP:0003391	Gowers sign	2/9	OMIM:603511
10049	DNAJB6	HP:0030951	Skeletal muscle fibrosis	HP:0040283	ORPHA:34516
10049	DNAJB6	HP:0010548	Percussion myotonia	HP:0040284	ORPHA:34516
10049	DNAJB6	HP:0003555	Muscle fiber splitting	-	OMIM:603511
10049	DNAJB6	HP:0003551	Difficulty climbing stairs	6/9	OMIM:603511
10049	DNAJB6	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:34516
10049	DNAJB6	HP:0003547	Shoulder girdle muscle weakness	-	OMIM:603511
10049	DNAJB6	HP:0003560	Muscular dystrophy	-	OMIM:603511
10049	DNAJB6	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:34516
10049	DNAJB6	HP:0033383	Decreased compound muscle action potential amplitude	2/2	OMIM:603511
10049	DNAJB6	HP:0010628	Facial palsy	HP:0040283	OMIM:603511
10049	DNAJB6	HP:0003677	Slowly progressive	-	OMIM:603511
10049	DNAJB6	HP:0009046	Difficulty running	1/9	OMIM:603511
10049	DNAJB6	HP:0004303	Abnormal muscle fiber morphology	HP:0040284	ORPHA:34516
10049	DNAJB6	HP:0011462	Young adult onset	9/9	OMIM:603511
10049	DNAJB6	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:603511
10049	DNAJB6	HP:0012548	Fatty replacement of skeletal muscle	HP:0040283	ORPHA:34516
10052	GJC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
10052	GJC1	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
10052	GJC1	HP:0001664	Torsade de pointes	1/46	OMIM:115000
10052	GJC1	HP:0001645	Sudden cardiac death	-	OMIM:115000
10052	GJC1	HP:0001663	Ventricular fibrillation	-	OMIM:115000
10052	GJC1	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
10052	GJC1	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
10054	UBA2	HP:0009921	Duane anomaly	1/1	OMIM:619959
10054	UBA2	HP:0001270	Motor delay	1/1	OMIM:619959
10054	UBA2	HP:0001263	Global developmental delay	0/1	OMIM:619959
10054	UBA2	HP:0002558	Supernumerary nipple	1/1	OMIM:619959
10054	UBA2	HP:0002575	Tracheoesophageal fistula	1/1	OMIM:619959
10054	UBA2	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:1114
10054	UBA2	HP:0007383	Congenital localized absence of skin	HP:0040281	ORPHA:1114
10054	UBA2	HP:0007385	Aplasia cutis congenita of scalp	2/2	OMIM:619959
10054	UBA2	HP:0000085	Horseshoe kidney	1/1	OMIM:619959
10054	UBA2	HP:0001385	Hip dysplasia	1/1	OMIM:619959
10054	UBA2	HP:0001362	Calvarial skull defect	HP:0040281	ORPHA:1114
10054	UBA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619959
10054	UBA2	HP:0003577	Congenital onset	3/3	OMIM:619959
10054	UBA2	HP:0002209	Sparse scalp hair	1/1	OMIM:619959
10054	UBA2	HP:0002205	Recurrent respiratory infections	1/1	OMIM:619959
10054	UBA2	HP:0011968	Feeding difficulties	1/1	OMIM:619959
10054	UBA2	HP:0010628	Facial palsy	HP:0040283	ORPHA:1114
10054	UBA2	HP:0001057	Aplasia cutis congenita	HP:0040281	ORPHA:1114
10054	UBA2	HP:0200042	Skin ulcer	HP:0040282	ORPHA:1114
10054	UBA2	HP:0010783	Erythema	HP:0040283	ORPHA:1114
10054	UBA2	HP:0004209	Clinodactyly of the 5th finger	1/1	OMIM:619959
10054	UBA2	HP:0003010	Prolonged bleeding time	HP:0040283	ORPHA:1114
10054	UBA2	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:1114
10054	UBA2	HP:0000750	Delayed speech and language development	1/1	OMIM:619959
10054	UBA2	HP:0000729	Autistic behavior	1/1	OMIM:619959
10054	UBA2	HP:0004471	Aplasia cutis congenita over the scalp vertex	HP:0040281	ORPHA:1114
10054	UBA2	HP:5200061	Tactile hypersensitivity	HP:0040283	ORPHA:1114
10054	UBA2	HP:0100257	Ectrodactyly	1/1	OMIM:619959
10054	UBA2	HP:0010301	Spinal dysraphism	HP:0040281	ORPHA:1114
10054	UBA2	HP:0000278	Retrognathia	1/1	OMIM:619959
10054	UBA2	HP:0002827	Hip dislocation	1/1	OMIM:619959
10054	UBA2	HP:0001508	Failure to thrive	1/1	OMIM:619959
10054	UBA2	HP:0000369	Low-set ears	1/1	OMIM:619959
10054	UBA2	HP:0000348	High forehead	1/1	OMIM:619959
10054	UBA2	HP:0000486	Strabismus	2/2	OMIM:619959
10054	UBA2	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:1114
10054	UBA2	HP:0000411	Protruding ear	1/1	OMIM:619959
10054	UBA2	HP:0001839	Split foot	1/1	OMIM:619959
10056	FARSB	HP:0001290	Generalized hypotonia	-	OMIM:613658
10056	FARSB	HP:0001250	Seizure	1/1	OMIM:613658
10056	FARSB	HP:0001252	Hypotonia	5/5	OMIM:613658
10056	FARSB	HP:0001263	Global developmental delay	1/1	OMIM:613658
10056	FARSB	HP:0002566	Intestinal malrotation	2/5	OMIM:613658
10056	FARSB	HP:0002514	Cerebral calcification	11/12	OMIM:613658
10056	FARSB	HP:0001397	Hepatic steatosis	1/1	OMIM:613658
10056	FARSB	HP:0001396	Cholestasis	1/1	OMIM:613658
10056	FARSB	HP:0001394	Cirrhosis	3/6	OMIM:613658
10056	FARSB	HP:0012050	Anasarca	1/1	OMIM:613658
10056	FARSB	HP:0000046	Small scrotum	1/1	OMIM:613658
10056	FARSB	HP:0001382	Joint hypermobility	1/1	OMIM:613658
10056	FARSB	HP:0000023	Inguinal hernia	1/1	OMIM:613658
10056	FARSB	HP:0001328	Specific learning disability	7/7	OMIM:613658
10056	FARSB	HP:0000010	Recurrent urinary tract infections	1/1	OMIM:613658
10056	FARSB	HP:0000007	Autosomal recessive inheritance	-	OMIM:613658
10056	FARSB	HP:0002650	Scoliosis	2/5	OMIM:613658
10056	FARSB	HP:0008936	Axial hypotonia	1/1	OMIM:613658
10056	FARSB	HP:0002789	Tachypnea	1/1	OMIM:613658
10056	FARSB	HP:0002753	Thin bony cortex	7/7	OMIM:613658
10056	FARSB	HP:0001410	Decreased liver function	1/1	OMIM:613658
10056	FARSB	HP:0001409	Portal hypertension	1/1	OMIM:613658
10056	FARSB	HP:0001408	Bile duct proliferation	1/1	OMIM:613658
10056	FARSB	HP:0002750	Delayed skeletal maturation	7/7	OMIM:613658
10056	FARSB	HP:0002748	Rickets	1/1	OMIM:613658
10056	FARSB	HP:0002020	Gastroesophageal reflux	1/1	OMIM:613658
10056	FARSB	HP:0002013	Vomiting	1/1	OMIM:613658
10056	FARSB	HP:0002097	Emphysema	-	OMIM:613658
10056	FARSB	HP:0002093	Respiratory insufficiency	1/1	OMIM:613658
10056	FARSB	HP:0002040	Esophageal varix	1/1	OMIM:613658
10056	FARSB	HP:0002059	Cerebral atrophy	-	OMIM:613658
10056	FARSB	HP:0100512	Decreased circulating vitamin D concentration	1/1	OMIM:613658
10056	FARSB	HP:0008282	Unconjugated hyperbilirubinemia	1/1	OMIM:613658
10056	FARSB	HP:0003593	Infantile onset	-	OMIM:613658
10056	FARSB	HP:0003546	Exercise intolerance	8/8	OMIM:613658
10056	FARSB	HP:0011968	Feeding difficulties	1/1	OMIM:613658
10056	FARSB	HP:0002315	Headache	7/7	OMIM:613658
10056	FARSB	HP:0004944	Dilatation of the cerebral artery	2/2	OMIM:613658
10056	FARSB	HP:0004905	Reduced circulating vitamin A concentration	1/1	OMIM:613658
10056	FARSB	HP:0001943	Hypoglycemia	1/1	OMIM:613658
10056	FARSB	HP:0000601	Hypotelorism	2/5	OMIM:613658
10056	FARSB	HP:0001903	Anemia	7/7	OMIM:613658
10056	FARSB	HP:0004322	Short stature	8/8	OMIM:613658
10056	FARSB	HP:0003073	Hypoalbuminemia	1/1	OMIM:613658
10056	FARSB	HP:0004349	Reduced bone mineral density	2/5	OMIM:613658
10056	FARSB	HP:0012735	Cough	1/1	OMIM:613658
10056	FARSB	HP:0000767	Pectus excavatum	2/5	OMIM:613658
10056	FARSB	HP:0011461	Fetal onset	1/1	OMIM:613658
10056	FARSB	HP:0000938	Osteopenia	1/1	OMIM:613658
10056	FARSB	HP:0000252	Microcephaly	8/8	OMIM:613658
10056	FARSB	HP:0002878	Respiratory failure	1/1	OMIM:613658
10056	FARSB	HP:0000218	High palate	1/1	OMIM:613658
10056	FARSB	HP:0001562	Oligohydramnios	1/1	OMIM:613658
10056	FARSB	HP:0001541	Ascites	1/1	OMIM:613658
10056	FARSB	HP:0001533	Slender build	-	OMIM:613658
10056	FARSB	HP:0001508	Failure to thrive	1/1	OMIM:613658
10056	FARSB	HP:0001518	Small for gestational age	1/1	OMIM:613658
10056	FARSB	HP:0001511	Intrauterine growth retardation	1/1	OMIM:613658
10056	FARSB	HP:0001510	Growth delay	8/8	OMIM:613658
10056	FARSB	HP:0006530	Abnormal pulmonary interstitial morphology	6/6	OMIM:613658
10056	FARSB	HP:0002910	Elevated circulating hepatic transaminase concentration	3/6	OMIM:613658
10056	FARSB	HP:0002901	Hypocalcemia	1/1	OMIM:613658
10056	FARSB	HP:0032988	Persistent head lag	1/1	OMIM:613658
10056	FARSB	HP:0000490	Deeply set eye	1/1	OMIM:613658
10056	FARSB	HP:0011220	Prominent forehead	2/5	OMIM:613658
10056	FARSB	HP:0001876	Pancytopenia	1/1	OMIM:613658
10058	ABCB6	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
10058	ABCB6	HP:0003768	Periodic paralysis	-	OMIM:609153
10058	ABCB6	HP:0007565	Multiple cafe-au-lait spots	HP:0040282	ORPHA:241
10058	ABCB6	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
10058	ABCB6	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
10058	ABCB6	HP:0000006	Autosomal dominant inheritance	-	OMIM:609153
10058	ABCB6	HP:0000006	Autosomal dominant inheritance	-	OMIM:614497
10058	ABCB6	HP:0000006	Autosomal dominant inheritance	-	OMIM:615402
10058	ABCB6	HP:0001480	Freckling	HP:0040282	ORPHA:241
10058	ABCB6	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
10058	ABCB6	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
10058	ABCB6	HP:0003324	Generalized muscle weakness	-	OMIM:609153
10058	ABCB6	HP:0003394	Muscle spasm	-	OMIM:609153
10058	ABCB6	HP:0002153	Hyperkalemia	HP:0040281	ORPHA:90044
10058	ABCB6	HP:0002153	Hyperkalemia	-	OMIM:609153
10058	ABCB6	HP:0003577	Congenital onset	8/8	OMIM:614497
10058	ABCB6	HP:0020073	Hypopigmented macule	-	OMIM:615402
10058	ABCB6	HP:0004802	Episodic hemolytic anemia	HP:0040284	ORPHA:90044
10058	ABCB6	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:241
10058	ABCB6	HP:0001034	Hypermelanotic macule	-	OMIM:615402
10058	ABCB6	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:241
10058	ABCB6	HP:0002378	Hand tremor	-	OMIM:609153
10058	ABCB6	HP:0003621	Juvenile onset	8/19	OMIM:180100
10058	ABCB6	HP:0005518	Increased mean corpuscular volume	HP:0040283	ORPHA:90044
10058	ABCB6	HP:0005590	Spotty hypopigmentation	HP:0040281	ORPHA:241
10058	ABCB6	HP:0000612	Iris coloboma	8/8	OMIM:614497
10058	ABCB6	HP:0001923	Reticulocytosis	HP:0040283	ORPHA:90044
10058	ABCB6	HP:0000662	Nyctalopia	26/28	OMIM:180100
10058	ABCB6	HP:0004322	Short stature	HP:0040283	ORPHA:241
10058	ABCB6	HP:0012733	Macule	HP:0040281	ORPHA:241
10058	ABCB6	HP:0011463	Childhood onset	3/19	OMIM:180100
10058	ABCB6	HP:0011463	Childhood onset	-	OMIM:615402
10058	ABCB6	HP:0011462	Young adult onset	8/19	OMIM:180100
10058	ABCB6	HP:0004446	Stomatocytosis	HP:0040282	ORPHA:90044
10058	ABCB6	HP:0000822	Hypertension	HP:0040282	ORPHA:90044
10058	ABCB6	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:241
10058	ABCB6	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
10058	ABCB6	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
10058	ABCB6	HP:0000365	Hearing impairment	HP:0040282	ORPHA:241
10058	ABCB6	HP:0031613	Inferior chorioretinal coloboma	8/8	OMIM:614497
10058	ABCB6	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
10058	ABCB6	HP:0000575	Scotoma	5/18	OMIM:180100
10058	ABCB6	HP:0000568	Microphthalmia	HP:0040283	OMIM:614497
10058	ABCB6	HP:0001878	Hemolytic anemia	0/2	OMIM:609153
10058	ABCB6	HP:0000543	Optic disc pallor	1/1	OMIM:180100
10058	ABCB6	HP:0000545	Myopia	-	OMIM:180100
10059	DNM1L	HP:0002490	Increased CSF lactate	1/1	OMIM:614388
10059	DNM1L	HP:0001133	Constriction of peripheral visual field	3/4	OMIM:610708
10059	DNM1L	HP:0009921	Duane anomaly	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0007256	Abnormal pyramidal sign	-	OMIM:614388
10059	DNM1L	HP:0001298	Encephalopathy	-	OMIM:614388
10059	DNM1L	HP:0001290	Generalized hypotonia	-	OMIM:614388
10059	DNM1L	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:330050
10059	DNM1L	HP:0001272	Cerebellar atrophy	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0001270	Motor delay	1/1	OMIM:614388
10059	DNM1L	HP:0001269	Hemiparesis	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0001288	Gait disturbance	HP:0040283	ORPHA:330050
10059	DNM1L	HP:0001288	Gait disturbance	HP:0040283	ORPHA:98673
10059	DNM1L	HP:0001284	Areflexia	1/1	OMIM:614388
10059	DNM1L	HP:0001284	Areflexia	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0001250	Seizure	HP:0040283	OMIM:614388
10059	DNM1L	HP:0001250	Seizure	HP:0040282	ORPHA:330050
10059	DNM1L	HP:0001250	Seizure	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0001252	Hypotonia	11/11	OMIM:614388
10059	DNM1L	HP:0001251	Ataxia	HP:0040283	ORPHA:98673
10059	DNM1L	HP:0001263	Global developmental delay	1/1	OMIM:614388
10059	DNM1L	HP:0001263	Global developmental delay	HP:0040282	ORPHA:330050
10059	DNM1L	HP:0001263	Global developmental delay	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0001258	Spastic paraplegia	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0001257	Spasticity	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:330050
10059	DNM1L	HP:0007371	Corpus callosum atrophy	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0007366	Atrophy/Degeneration affecting the brainstem	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:330050
10059	DNM1L	HP:0002540	Inability to walk	HP:0040282	ORPHA:330050
10059	DNM1L	HP:0002518	Abnormal periventricular white matter morphology	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:330050
10059	DNM1L	HP:0001332	Dystonia	HP:0040283	ORPHA:330050
10059	DNM1L	HP:0001344	Absent speech	HP:0040282	ORPHA:330050
10059	DNM1L	HP:0000007	Autosomal recessive inheritance	-	OMIM:614388
10059	DNM1L	HP:0001337	Tremor	HP:0040283	ORPHA:330050
10059	DNM1L	HP:0000006	Autosomal dominant inheritance	-	OMIM:614388
10059	DNM1L	HP:0000006	Autosomal dominant inheritance	-	OMIM:610708
10059	DNM1L	HP:0002650	Scoliosis	HP:0040283	ORPHA:330050
10059	DNM1L	HP:0002643	Neonatal respiratory distress	1/1	OMIM:614388
10059	DNM1L	HP:0012169	Self-biting	1/1	OMIM:614388
10059	DNM1L	HP:0001488	Bilateral ptosis	HP:0040283	ORPHA:330050
10059	DNM1L	HP:0000135	Hypogonadism	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0008936	Axial hypotonia	1/1	OMIM:614388
10059	DNM1L	HP:0012103	Abnormality of the mitochondrion	HP:0040281	ORPHA:330050
10059	DNM1L	HP:0003348	Hyperalaninemia	1/1	OMIM:614388
10059	DNM1L	HP:0003326	Myalgia	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0002015	Dysphagia	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:330050
10059	DNM1L	HP:0002076	Migraine	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0002059	Cerebral atrophy	-	OMIM:614388
10059	DNM1L	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:614388
10059	DNM1L	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:330050
10059	DNM1L	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:330050
10059	DNM1L	HP:0002135	Basal ganglia calcification	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0002133	Status epilepticus	HP:0040282	ORPHA:330050
10059	DNM1L	HP:0002133	Status epilepticus	HP:0040283	OMIM:614388
10059	DNM1L	HP:0002188	Delayed CNS myelination	1/1	OMIM:614388
10059	DNM1L	HP:0010553	Oculogyric crisis	HP:0040283	ORPHA:330050
10059	DNM1L	HP:0003596	Middle age onset	1/4	OMIM:610708
10059	DNM1L	HP:0200134	Epileptic encephalopathy	HP:0040283	OMIM:614388
10059	DNM1L	HP:0007021	Pain insensitivity	1/1	OMIM:614388
10059	DNM1L	HP:0011968	Feeding difficulties	1/1	OMIM:614388
10059	DNM1L	HP:0011968	Feeding difficulties	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:330050
10059	DNM1L	HP:0002381	Aphasia	HP:0040283	ORPHA:330050
10059	DNM1L	HP:0003691	Scapular winging	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0002376	Developmental regression	HP:0040282	ORPHA:330050
10059	DNM1L	HP:0003676	Progressive	-	OMIM:614388
10059	DNM1L	HP:0003677	Slowly progressive	-	OMIM:610708
10059	DNM1L	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:98673
10059	DNM1L	HP:0003623	Neonatal onset	2/2	OMIM:614388
10059	DNM1L	HP:0002307	Drooling	1/1	OMIM:614388
10059	DNM1L	HP:0002305	Athetosis	1/1	OMIM:614388
10059	DNM1L	HP:0003621	Juvenile onset	2/4	OMIM:610708
10059	DNM1L	HP:0030515	Moderately reduced visual acuity	HP:0040282	ORPHA:98673
10059	DNM1L	HP:0006801	Hyperactive deep tendon reflexes	HP:0040283	ORPHA:330050
10059	DNM1L	HP:0000639	Nystagmus	HP:0040282	ORPHA:330050
10059	DNM1L	HP:0000639	Nystagmus	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0000648	Optic atrophy	-	OMIM:614388
10059	DNM1L	HP:0000648	Optic atrophy	4/4	OMIM:610708
10059	DNM1L	HP:0000648	Optic atrophy	HP:0040282	ORPHA:330050
10059	DNM1L	HP:0000648	Optic atrophy	HP:0040281	ORPHA:98673
10059	DNM1L	HP:0001972	Macrocytic anemia	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:98673
10059	DNM1L	HP:0000603	Central scotoma	3/4	OMIM:610708
10059	DNM1L	HP:0000603	Central scotoma	HP:0040283	ORPHA:98673
10059	DNM1L	HP:0030455	Abnormality of pattern visual evoked potentials	4/4	OMIM:610708
10059	DNM1L	HP:0010055	Broad hallux	1/1	OMIM:614388
10059	DNM1L	HP:0000657	Oculomotor apraxia	-	OMIM:614388
10059	DNM1L	HP:0011304	Broad thumb	1/1	OMIM:614388
10059	DNM1L	HP:0000666	Horizontal nystagmus	1/1	OMIM:614388
10059	DNM1L	HP:0000738	Hallucinations	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0012707	Elevated brain lactate level by MRS	HP:0040282	ORPHA:330050
10059	DNM1L	HP:0000711	Restlessness	1/1	OMIM:614388
10059	DNM1L	HP:0000726	Dementia	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:330050
10059	DNM1L	HP:0003198	Myopathy	HP:0040283	ORPHA:98673
10059	DNM1L	HP:0034298	Elevated circulating hexacosanoic acid concentration	1/1	OMIM:614388
10059	DNM1L	HP:0003128	Lactic acidosis	-	OMIM:614388
10059	DNM1L	HP:0000819	Diabetes mellitus	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:330050
10059	DNM1L	HP:0003202	Skeletal muscle atrophy	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0000252	Microcephaly	1/1	OMIM:614388
10059	DNM1L	HP:0025514	Morning glory anomaly	HP:0040282	ORPHA:98673
10059	DNM1L	HP:0001558	Decreased fetal movement	1/1	OMIM:614388
10059	DNM1L	HP:0001522	Death in infancy	1/1	OMIM:614388
10059	DNM1L	HP:0001508	Failure to thrive	-	OMIM:614388
10059	DNM1L	HP:0012378	Fatigue	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0000307	Pointed chin	1/1	OMIM:614388
10059	DNM1L	HP:0007924	Slow decrease in visual acuity	-	OMIM:610708
10059	DNM1L	HP:0030319	Weakness of facial musculature	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:98673
10059	DNM1L	HP:0000486	Strabismus	-	OMIM:614388
10059	DNM1L	HP:0000486	Strabismus	HP:0040283	ORPHA:330050
10059	DNM1L	HP:0000490	Deeply set eye	1/1	OMIM:614388
10059	DNM1L	HP:0025710	Late young adult onset	1/4	OMIM:610708
10059	DNM1L	HP:0001761	Pes cavus	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0000518	Cataract	HP:0040284	ORPHA:98673
10059	DNM1L	HP:0000508	Ptosis	HP:0040283	ORPHA:98673
10059	DNM1L	HP:0000505	Visual impairment	HP:0040281	ORPHA:98673
10059	DNM1L	HP:0012569	Delayed menarche	HP:0040283	ORPHA:330050
10059	DNM1L	HP:0000552	Tritanomaly	-	OMIM:610708
10059	DNM1L	HP:0000551	Color vision defect	HP:0040282	ORPHA:98673
10059	DNM1L	HP:0012511	Temporal optic disc pallor	HP:0040282	ORPHA:98673
10059	DNM1L	HP:0000543	Optic disc pallor	1/1	OMIM:614388
10059	DNM1L	HP:0000543	Optic disc pallor	4/4	OMIM:610708
10060	ABCC9	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
10060	ABCC9	HP:0025169	Left ventricular systolic dysfunction	2/6	OMIM:619719
10060	ABCC9	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
10060	ABCC9	HP:0001293	Cranial nerve compression	-	OMIM:131300
10060	ABCC9	HP:0001279	Syncope	HP:0040282	ORPHA:334
10060	ABCC9	HP:0001279	Syncope	HP:0040282	ORPHA:130
10060	ABCC9	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0001256	Intellectual disability, mild	-	OMIM:239850
10060	ABCC9	HP:0001252	Hypotonia	6/6	OMIM:619719
10060	ABCC9	HP:0001252	Hypotonia	2/7	OMIM:615777
10060	ABCC9	HP:0001249	Intellectual disability	5/7	OMIM:615777
10060	ABCC9	HP:0001263	Global developmental delay	-	OMIM:615777
10060	ABCC9	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:1517
10060	ABCC9	HP:0002515	Waddling gait	54/102	OMIM:131300
10060	ABCC9	HP:0001374	Congenital hip dislocation	1/6	OMIM:619719
10060	ABCC9	HP:0001377	Limited elbow extension	1/6	OMIM:619719
10060	ABCC9	HP:0001382	Joint hypermobility	-	OMIM:615777
10060	ABCC9	HP:0002694	Sclerosis of skull base	-	OMIM:131300
10060	ABCC9	HP:0002690	Large sella turcica	-	OMIM:239850
10060	ABCC9	HP:0008897	Postnatal growth retardation	-	OMIM:615777
10060	ABCC9	HP:0008822	Hypoplastic ischiopubic ramus	-	OMIM:239850
10060	ABCC9	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
10060	ABCC9	HP:0001324	Muscle weakness	40/96	OMIM:131300
10060	ABCC9	HP:0002673	Coxa valga	HP:0040281	ORPHA:1517
10060	ABCC9	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
10060	ABCC9	HP:0002673	Coxa valga	-	OMIM:239850
10060	ABCC9	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
10060	ABCC9	HP:0000007	Autosomal recessive inheritance	-	OMIM:619719
10060	ABCC9	HP:0000006	Autosomal dominant inheritance	-	OMIM:239850
10060	ABCC9	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
10060	ABCC9	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
10060	ABCC9	HP:0000006	Autosomal dominant inheritance	-	OMIM:608569
10060	ABCC9	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
10060	ABCC9	HP:0000006	Autosomal dominant inheritance	-	OMIM:614050
10060	ABCC9	HP:0002652	Skeletal dysplasia	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0002650	Scoliosis	1/6	OMIM:619719
10060	ABCC9	HP:0002650	Scoliosis	12/14	OMIM:131300
10060	ABCC9	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
10060	ABCC9	HP:0002619	Varicose veins	-	OMIM:153400
10060	ABCC9	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
10060	ABCC9	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
10060	ABCC9	HP:0000179	Thick lower lip vermilion	-	OMIM:239850
10060	ABCC9	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
10060	ABCC9	HP:0000175	Cleft palate	5/39	OMIM:153400
10060	ABCC9	HP:0000175	Cleft palate	2/7	OMIM:615777
10060	ABCC9	HP:0000154	Wide mouth	HP:0040281	ORPHA:1517
10060	ABCC9	HP:0007665	Curly eyelashes	HP:0040281	ORPHA:1517
10060	ABCC9	HP:0007665	Curly eyelashes	-	OMIM:239850
10060	ABCC9	HP:0500093	Food allergy	2/6	OMIM:619719
10060	ABCC9	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0002750	Delayed skeletal maturation	-	OMIM:239850
10060	ABCC9	HP:0004634	Cuboid-shaped vertebral bodies	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0004634	Cuboid-shaped vertebral bodies	-	OMIM:239850
10060	ABCC9	HP:0003300	Ovoid vertebral bodies	-	OMIM:239850
10060	ABCC9	HP:0003300	Ovoid vertebral bodies	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
10060	ABCC9	HP:0003388	Easy fatigability	36/76	OMIM:131300
10060	ABCC9	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
10060	ABCC9	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
10060	ABCC9	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
10060	ABCC9	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
10060	ABCC9	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
10060	ABCC9	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
10060	ABCC9	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
10060	ABCC9	HP:0004757	Paroxysmal atrial fibrillation	1/1	OMIM:614050
10060	ABCC9	HP:0004756	Ventricular tachycardia	3/3	OMIM:608569
10060	ABCC9	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
10060	ABCC9	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
10060	ABCC9	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:1517
10060	ABCC9	HP:0002172	Postural instability	6/6	OMIM:619719
10060	ABCC9	HP:0033204	Triceps hyperreflexia	1/6	OMIM:619719
10060	ABCC9	HP:0010535	Sleep apnea	2/2	OMIM:619719
10060	ABCC9	HP:0003596	Middle age onset	1/1	OMIM:614050
10060	ABCC9	HP:0003596	Middle age onset	3/3	OMIM:608569
10060	ABCC9	HP:0003593	Infantile onset	5/6	OMIM:619719
10060	ABCC9	HP:0003577	Congenital onset	1/6	OMIM:619719
10060	ABCC9	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
10060	ABCC9	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
10060	ABCC9	HP:0002230	Generalized hirsutism	HP:0040281	ORPHA:1517
10060	ABCC9	HP:0009743	Distichiasis	42/42	OMIM:153400
10060	ABCC9	HP:0100749	Chest pain	HP:0040282	ORPHA:334
10060	ABCC9	HP:0032012	Heterotropia	1/6	OMIM:619719
10060	ABCC9	HP:0003510	Severe short stature	7/7	OMIM:615777
10060	ABCC9	HP:0020045	Esodeviation	1/6	OMIM:619719
10060	ABCC9	HP:0002395	Lower limb hyperreflexia	4/6	OMIM:619719
10060	ABCC9	HP:0001047	Atopic dermatitis	2/6	OMIM:619719
10060	ABCC9	HP:0001004	Lymphedema	-	OMIM:239850
10060	ABCC9	HP:0001004	Lymphedema	-	OMIM:153400
10060	ABCC9	HP:0002321	Vertigo	HP:0040282	ORPHA:334
10060	ABCC9	HP:0002315	Headache	-	OMIM:131300
10060	ABCC9	HP:0004976	Knee dislocation	6/7	OMIM:615777
10060	ABCC9	HP:0004975	Erlenmeyer flask deformity of the femurs	-	OMIM:239850
10060	ABCC9	HP:0100658	Cellulitis	2/6	OMIM:153400
10060	ABCC9	HP:0009803	Short phalanx of finger	-	OMIM:615777
10060	ABCC9	HP:0009763	Limb pain	63/92	OMIM:131300
10060	ABCC9	HP:0003621	Juvenile onset	-	OMIM:131300
10060	ABCC9	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
10060	ABCC9	HP:0010068	Broad first metatarsal	-	OMIM:239850
10060	ABCC9	HP:0010059	Broad hallux phalanx	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0005590	Spotty hypopigmentation	2/6	OMIM:619719
10060	ABCC9	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
10060	ABCC9	HP:0000639	Nystagmus	1/6	OMIM:619719
10060	ABCC9	HP:0001962	Palpitations	HP:0040282	ORPHA:334
10060	ABCC9	HP:6001056	Out-toeing	-	OMIM:131300
10060	ABCC9	HP:0000651	Diplopia	-	OMIM:131300
10060	ABCC9	HP:0000613	Photophobia	10/49	OMIM:153400
10060	ABCC9	HP:0001956	Truncal obesity	2/7	OMIM:615777
10060	ABCC9	HP:0000601	Hypotelorism	4/6	OMIM:619719
10060	ABCC9	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
10060	ABCC9	HP:0001903	Anemia	HP:0040283	OMIM:131300
10060	ABCC9	HP:0010049	Short metacarpal	-	OMIM:615777
10060	ABCC9	HP:0010055	Broad hallux	-	OMIM:239850
10060	ABCC9	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
10060	ABCC9	HP:0000678	Dental crowding	-	OMIM:615777
10060	ABCC9	HP:0000689	Dental malocclusion	4/6	OMIM:619719
10060	ABCC9	HP:0000656	Ectropion	2/43	OMIM:153400
10060	ABCC9	HP:0000670	Carious teeth	-	OMIM:131300
10060	ABCC9	HP:0011304	Broad thumb	2/7	OMIM:615777
10060	ABCC9	HP:0000668	Hypodontia	-	OMIM:615777
10060	ABCC9	HP:0000664	Synophrys	-	OMIM:615777
10060	ABCC9	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
10060	ABCC9	HP:0005616	Accelerated skeletal maturation	HP:0040283	ORPHA:1517
10060	ABCC9	HP:0004396	Poor appetite	-	OMIM:131300
10060	ABCC9	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
10060	ABCC9	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
10060	ABCC9	HP:0003016	Metaphyseal widening	-	OMIM:239850
10060	ABCC9	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
10060	ABCC9	HP:0003011	Abnormality of the musculature	-	OMIM:153400
10060	ABCC9	HP:0003026	Short long bone	7/7	OMIM:615777
10060	ABCC9	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
10060	ABCC9	HP:0000767	Pectus excavatum	2/7	OMIM:615777
10060	ABCC9	HP:0000768	Pectus carinatum	1/7	OMIM:615777
10060	ABCC9	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
10060	ABCC9	HP:0000739	Anxiety	4/4	OMIM:619719
10060	ABCC9	HP:0000750	Delayed speech and language development	-	OMIM:615777
10060	ABCC9	HP:0011461	Fetal onset	7/7	OMIM:615777
10060	ABCC9	HP:0010109	Short hallux	-	OMIM:239850
10060	ABCC9	HP:0010109	Short hallux	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
10060	ABCC9	HP:0000774	Narrow chest	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0000774	Narrow chest	2/7	OMIM:615777
10060	ABCC9	HP:0000774	Narrow chest	-	OMIM:239850
10060	ABCC9	HP:0003198	Myopathy	HP:0040283	ORPHA:154
10060	ABCC9	HP:0000926	Platyspondyly	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0000926	Platyspondyly	1/7	OMIM:615777
10060	ABCC9	HP:0000926	Platyspondyly	-	OMIM:239850
10060	ABCC9	HP:0003180	Flat acetabular roof	-	OMIM:615777
10060	ABCC9	HP:0004482	Relative macrocephaly	-	OMIM:615777
10060	ABCC9	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
10060	ABCC9	HP:0000885	Broad ribs	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0012804	Corneal ulceration	-	OMIM:153400
10060	ABCC9	HP:0000823	Delayed puberty	-	OMIM:131300
10060	ABCC9	HP:0000894	Short clavicles	-	OMIM:615777
10060	ABCC9	HP:0004540	Congenital, generalized hypertrichosis	-	OMIM:239850
10060	ABCC9	HP:0030891	Periventricular white matter hyperintensities	3/6	OMIM:619719
10060	ABCC9	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
10060	ABCC9	HP:0010310	Chylothorax	1/6	OMIM:153400
10060	ABCC9	HP:0000957	Cafe-au-lait spot	1/6	OMIM:619719
10060	ABCC9	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
10060	ABCC9	HP:0000969	Edema	HP:0040282	ORPHA:154
10060	ABCC9	HP:0000965	Cutis marmorata	6/6	OMIM:619719
10060	ABCC9	HP:0000939	Osteoporosis	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0000939	Osteoporosis	-	OMIM:239850
10060	ABCC9	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1517
10060	ABCC9	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
10060	ABCC9	HP:0011675	Arrhythmia	-	OMIM:153400
10060	ABCC9	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
10060	ABCC9	HP:0000286	Epicanthus	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0000286	Epicanthus	-	OMIM:239850
10060	ABCC9	HP:0000286	Epicanthus	1/7	OMIM:615777
10060	ABCC9	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1517
10060	ABCC9	HP:0000280	Coarse facial features	2/7	OMIM:615777
10060	ABCC9	HP:0000280	Coarse facial features	-	OMIM:239850
10060	ABCC9	HP:0000294	Low anterior hairline	HP:0040281	ORPHA:1517
10060	ABCC9	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
10060	ABCC9	HP:0000256	Macrocephaly	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0000256	Macrocephaly	-	OMIM:239850
10060	ABCC9	HP:0005129	Congenital hypertrophy of left ventricle	-	OMIM:239850
10060	ABCC9	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
10060	ABCC9	HP:0002827	Hip dislocation	3/7	OMIM:615777
10060	ABCC9	HP:0002808	Kyphosis	2/5	OMIM:153400
10060	ABCC9	HP:0001566	Widely-spaced maxillary central incisors	2/6	OMIM:619719
10060	ABCC9	HP:0000252	Microcephaly	-	OMIM:615777
10060	ABCC9	HP:0000219	Thin upper lip vermilion	6/6	OMIM:619719
10060	ABCC9	HP:0000212	Gingival overgrowth	-	OMIM:239850
10060	ABCC9	HP:0000215	Thick upper lip vermilion	-	OMIM:239850
10060	ABCC9	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
10060	ABCC9	HP:0002857	Genu valgum	-	OMIM:131300
10060	ABCC9	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0001537	Umbilical hernia	-	OMIM:239850
10060	ABCC9	HP:0001533	Slender build	-	OMIM:131300
10060	ABCC9	HP:0000204	Cleft upper lip	-	OMIM:153400
10060	ABCC9	HP:0001520	Large for gestational age	-	OMIM:239850
10060	ABCC9	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
10060	ABCC9	HP:0011081	Incisor macrodontia	4/6	OMIM:619719
10060	ABCC9	HP:0007807	Optic nerve compression	-	OMIM:131300
10060	ABCC9	HP:0012378	Fatigue	HP:0040282	ORPHA:154
10060	ABCC9	HP:0012378	Fatigue	6/6	OMIM:619719
10060	ABCC9	HP:0012378	Fatigue	HP:0040282	ORPHA:334
10060	ABCC9	HP:0012368	Flat face	5/6	OMIM:619719
10060	ABCC9	HP:0012368	Flat face	7/7	OMIM:615777
10060	ABCC9	HP:0002938	Lumbar hyperlordosis	4/6	OMIM:619719
10060	ABCC9	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
10060	ABCC9	HP:0000365	Hearing impairment	10/67	OMIM:131300
10060	ABCC9	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
10060	ABCC9	HP:0001698	Pericardial effusion	-	OMIM:239850
10060	ABCC9	HP:0000343	Long philtrum	HP:0040281	ORPHA:1517
10060	ABCC9	HP:0000343	Long philtrum	-	OMIM:239850
10060	ABCC9	HP:0000343	Long philtrum	1/7	OMIM:615777
10060	ABCC9	HP:0011001	Increased bone mineral density	-	OMIM:131300
10060	ABCC9	HP:0001664	Torsade de pointes	1/46	OMIM:115000
10060	ABCC9	HP:0000336	Prominent supraorbital ridges	6/6	OMIM:619719
10060	ABCC9	HP:0000336	Prominent supraorbital ridges	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0000347	Micrognathia	2/5	OMIM:153400
10060	ABCC9	HP:0001647	Bicuspid aortic valve	-	OMIM:239850
10060	ABCC9	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
10060	ABCC9	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0001643	Patent ductus arteriosus	-	OMIM:239850
10060	ABCC9	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
10060	ABCC9	HP:0000311	Round face	2/7	OMIM:615777
10060	ABCC9	HP:0001645	Sudden cardiac death	-	OMIM:115000
10060	ABCC9	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
10060	ABCC9	HP:0001644	Dilated cardiomyopathy	3/3	OMIM:608569
10060	ABCC9	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
10060	ABCC9	HP:0001663	Ventricular fibrillation	-	OMIM:115000
10060	ABCC9	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
10060	ABCC9	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:1517
10060	ABCC9	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
10060	ABCC9	HP:0001640	Cardiomegaly	HP:0040281	ORPHA:1517
10060	ABCC9	HP:0001640	Cardiomegaly	-	OMIM:239850
10060	ABCC9	HP:0002970	Genu varum	-	OMIM:615777
10060	ABCC9	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:1517
10060	ABCC9	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
10060	ABCC9	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
10060	ABCC9	HP:0001635	Congestive heart failure	3/3	OMIM:608569
10060	ABCC9	HP:0000303	Mandibular prognathia	-	OMIM:131300
10060	ABCC9	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
10060	ABCC9	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
10060	ABCC9	HP:0006670	Impaired myocardial contractility	3/3	OMIM:608569
10060	ABCC9	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
10060	ABCC9	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
10060	ABCC9	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
10060	ABCC9	HP:0005280	Depressed nasal bridge	-	OMIM:239850
10060	ABCC9	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
10060	ABCC9	HP:0012471	Thick vermilion border	HP:0040281	ORPHA:1517
10060	ABCC9	HP:0000476	Cystic hygroma	2/43	OMIM:153400
10060	ABCC9	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
10060	ABCC9	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0000463	Anteverted nares	-	OMIM:239850
10060	ABCC9	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
10060	ABCC9	HP:0000455	Broad nasal tip	4/6	OMIM:619719
10060	ABCC9	HP:0000470	Short neck	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0000470	Short neck	-	OMIM:239850
10060	ABCC9	HP:0000470	Short neck	1/7	OMIM:615777
10060	ABCC9	HP:0000465	Webbed neck	6/43	OMIM:153400
10060	ABCC9	HP:0001771	Achilles tendon contracture	4/6	OMIM:619719
10060	ABCC9	HP:0001769	Broad foot	HP:0040283	OMIM:615777
10060	ABCC9	HP:0001763	Pes planus	1/7	OMIM:615777
10060	ABCC9	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0000431	Wide nasal bridge	-	OMIM:239850
10060	ABCC9	HP:0005445	Enlarged posterior fossa	-	OMIM:239850
10060	ABCC9	HP:0001840	Metatarsus adductus	-	OMIM:615777
10060	ABCC9	HP:0000527	Long eyelashes	HP:0040281	ORPHA:1517
10060	ABCC9	HP:0000527	Long eyelashes	-	OMIM:239850
10060	ABCC9	HP:0000520	Proptosis	2/4	OMIM:131300
10060	ABCC9	HP:0000520	Proptosis	7/7	OMIM:615777
10060	ABCC9	HP:0000509	Conjunctivitis	-	OMIM:153400
10060	ABCC9	HP:0000508	Ptosis	2/39	OMIM:153400
10060	ABCC9	HP:0000592	Blue sclerae	2/7	OMIM:615777
10060	ABCC9	HP:0011220	Prominent forehead	-	OMIM:239850
10060	ABCC9	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:1517
10060	ABCC9	HP:0000568	Microphthalmia	1/6	OMIM:153400
10060	ABCC9	HP:0000565	Esotropia	1/6	OMIM:619719
10060	ABCC9	HP:0001869	Deep plantar creases	HP:0040282	ORPHA:1517
10060	ABCC9	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
10060	ABCC9	HP:0012514	Lower limb pain	4/4	OMIM:131300
10068	IL18BP	HP:0001259	Coma	1/1	OMIM:618549
10068	IL18BP	HP:0001399	Hepatic failure	1/1	OMIM:618549
10068	IL18BP	HP:0000007	Autosomal recessive inheritance	-	OMIM:618549
10068	IL18BP	HP:0002018	Nausea	1/1	OMIM:618549
10068	IL18BP	HP:0004787	Fulminant hepatitis	1/1	OMIM:618549
10068	IL18BP	HP:0002240	Hepatomegaly	1/1	OMIM:618549
10068	IL18BP	HP:0100651	Type I diabetes mellitus	1/1	OMIM:618549
10068	IL18BP	HP:0004396	Poor appetite	1/1	OMIM:618549
10068	IL18BP	HP:0000872	Hashimoto thyroiditis	1/1	OMIM:618549
10068	IL18BP	HP:0000952	Jaundice	1/1	OMIM:618549
10068	IL18BP	HP:0000225	Gingival bleeding	1/1	OMIM:618549
10068	IL18BP	HP:0012378	Fatigue	1/1	OMIM:618549
10068	IL18BP	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:618549
10073	SNUPN	HP:0020202	Abnormal Z disk morphology	3/3	OMIM:620793
10073	SNUPN	HP:0003707	Calf muscle pseudohypertrophy	6/17	OMIM:620793
10073	SNUPN	HP:0001272	Cerebellar atrophy	5/9	OMIM:620793
10073	SNUPN	HP:0001270	Motor delay	15/18	OMIM:620793
10073	SNUPN	HP:0001284	Areflexia	2/2	OMIM:620793
10073	SNUPN	HP:0001263	Global developmental delay	2/7	OMIM:620793
10073	SNUPN	HP:0002505	Loss of ambulation	14/23	OMIM:620793
10073	SNUPN	HP:0001382	Joint hypermobility	0/5	OMIM:620793
10073	SNUPN	HP:0000007	Autosomal recessive inheritance	-	OMIM:620793
10073	SNUPN	HP:0002650	Scoliosis	11/16	OMIM:620793
10073	SNUPN	HP:0008994	Proximal muscle weakness in lower limbs	23/23	OMIM:620793
10073	SNUPN	HP:0008997	Proximal muscle weakness in upper limbs	23/23	OMIM:620793
10073	SNUPN	HP:0008959	Distal upper limb muscle weakness	17/21	OMIM:620793
10073	SNUPN	HP:0003327	Axial muscle weakness	16/18	OMIM:620793
10073	SNUPN	HP:0003307	Hyperlordosis	7/21	OMIM:620793
10073	SNUPN	HP:0003306	Spinal rigidity	3/17	OMIM:620793
10073	SNUPN	HP:0002093	Respiratory insufficiency	11/18	OMIM:620793
10073	SNUPN	HP:0002091	Restrictive ventilatory defect	5/5	OMIM:620793
10073	SNUPN	HP:0003391	Gowers sign	4/5	OMIM:620793
10073	SNUPN	HP:0008180	Mildly elevated creatine kinase	1/5	OMIM:620793
10073	SNUPN	HP:0003458	EMG: myopathic abnormalities	12/12	OMIM:620793
10073	SNUPN	HP:0003593	Infantile onset	1/18	OMIM:620793
10073	SNUPN	HP:0003577	Congenital onset	8/18	OMIM:620793
10073	SNUPN	HP:0003551	Difficulty climbing stairs	10/10	OMIM:620793
10073	SNUPN	HP:0007021	Pain insensitivity	3/14	OMIM:620793
10073	SNUPN	HP:0002317	Unsteady gait	7/7	OMIM:620793
10073	SNUPN	HP:0200012	Short corpus callosum	3/7	OMIM:620793
10073	SNUPN	HP:0003621	Juvenile onset	4/23	OMIM:620793
10073	SNUPN	HP:0009053	Distal lower limb muscle weakness	21/23	OMIM:620793
10073	SNUPN	HP:0009046	Difficulty running	1/1	OMIM:620793
10073	SNUPN	HP:0004303	Abnormal muscle fiber morphology	1/1	OMIM:620793
10073	SNUPN	HP:0011463	Childhood onset	10/23	OMIM:620793
10073	SNUPN	HP:0003121	Limb joint contracture	14/18	OMIM:620793
10073	SNUPN	HP:0003200	Ragged-red muscle fibers	1/2	OMIM:620793
10073	SNUPN	HP:0034392	Joint contracture	4/4	OMIM:620793
10073	SNUPN	HP:0034391	Elbow contracture	1/1	OMIM:620793
10073	SNUPN	HP:0100297	Increased endomysial connective tissue	9/9	OMIM:620793
10073	SNUPN	HP:0000252	Microcephaly	1/16	OMIM:620793
10073	SNUPN	HP:0001558	Decreased fetal movement	1/1	OMIM:620793
10073	SNUPN	HP:0001638	Cardiomyopathy	0/19	OMIM:620793
10073	SNUPN	HP:0030319	Weakness of facial musculature	0/5	OMIM:620793
10073	SNUPN	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:620793
10073	SNUPN	HP:0030227	Accumulation of muscle fiber myotilin	3/3	OMIM:620793
10073	SNUPN	HP:0030237	Hand muscle weakness	1/1	OMIM:620793
10073	SNUPN	HP:0030234	Highly elevated creatine kinase	20/22	OMIM:620793
10073	SNUPN	HP:0000519	Developmental cataract	6/18	OMIM:620793
10075	HUWE1	HP:0001182	Tapered finger	-	OMIM:309590
10075	HUWE1	HP:0001156	Brachydactyly	12/21	OMIM:309590
10075	HUWE1	HP:0001290	Generalized hypotonia	14/20	OMIM:309590
10075	HUWE1	HP:0001270	Motor delay	20/21	OMIM:309590
10075	HUWE1	HP:0001250	Seizure	HP:0040284	OMIM:309590
10075	HUWE1	HP:0001249	Intellectual disability	25/25	OMIM:309590
10075	HUWE1	HP:0001264	Spastic diplegia	-	OMIM:309590
10075	HUWE1	HP:0001263	Global developmental delay	-	OMIM:309590
10075	HUWE1	HP:0001371	Flexion contracture	5/17	OMIM:309590
10075	HUWE1	HP:0000054	Micropenis	-	OMIM:309590
10075	HUWE1	HP:0000047	Hypospadias	-	OMIM:309590
10075	HUWE1	HP:0001347	Hyperreflexia	-	OMIM:309590
10075	HUWE1	HP:0001363	Craniosynostosis	2/21	OMIM:309590
10075	HUWE1	HP:0000028	Cryptorchidism	3/7	OMIM:309590
10075	HUWE1	HP:0001344	Absent speech	-	OMIM:309590
10075	HUWE1	HP:0002650	Scoliosis	-	OMIM:309590
10075	HUWE1	HP:0000179	Thick lower lip vermilion	6/21	OMIM:309590
10075	HUWE1	HP:0000160	Narrow mouth	1/21	OMIM:309590
10075	HUWE1	HP:0000154	Wide mouth	-	OMIM:309590
10075	HUWE1	HP:0002750	Delayed skeletal maturation	-	OMIM:309590
10075	HUWE1	HP:0001417	X-linked inheritance	-	OMIM:309590
10075	HUWE1	HP:0002079	Hypoplasia of the corpus callosum	2/21	OMIM:309590
10075	HUWE1	HP:0002059	Cerebral atrophy	-	OMIM:309590
10075	HUWE1	HP:0002119	Ventriculomegaly	4/21	OMIM:309590
10075	HUWE1	HP:0002162	Low posterior hairline	-	OMIM:309590
10075	HUWE1	HP:0003593	Infantile onset	-	OMIM:309590
10075	HUWE1	HP:0002360	Sleep abnormality	5/21	OMIM:309590
10075	HUWE1	HP:0002370	Poor coordination	-	OMIM:309590
10075	HUWE1	HP:0200055	Small hand	-	OMIM:309590
10075	HUWE1	HP:0000639	Nystagmus	-	OMIM:309590
10075	HUWE1	HP:0000648	Optic atrophy	-	OMIM:309590
10075	HUWE1	HP:0000601	Hypotelorism	6/21	OMIM:309590
10075	HUWE1	HP:0000677	Oligodontia	2/21	OMIM:309590
10075	HUWE1	HP:0004322	Short stature	-	OMIM:309590
10075	HUWE1	HP:0031936	Delayed ability to walk	16/19	OMIM:309590
10075	HUWE1	HP:0012745	Short palpebral fissure	-	OMIM:309590
10075	HUWE1	HP:0000752	Hyperactivity	4/16	OMIM:309590
10075	HUWE1	HP:0000767	Pectus excavatum	-	OMIM:309590
10075	HUWE1	HP:0000733	Motor stereotypy	8/17	OMIM:309590
10075	HUWE1	HP:0000750	Delayed speech and language development	15/16	OMIM:309590
10075	HUWE1	HP:0003196	Short nose	8/21	OMIM:309590
10075	HUWE1	HP:0003202	Skeletal muscle atrophy	-	OMIM:309590
10075	HUWE1	HP:0000256	Macrocephaly	-	OMIM:309590
10075	HUWE1	HP:0000276	Long face	12/27	OMIM:309590
10075	HUWE1	HP:0030084	Clinodactyly	-	OMIM:309590
10075	HUWE1	HP:0000243	Trigonocephaly	-	OMIM:309590
10075	HUWE1	HP:0000252	Microcephaly	-	OMIM:309590
10075	HUWE1	HP:0000248	Brachycephaly	-	OMIM:309590
10075	HUWE1	HP:0000219	Thin upper lip vermilion	16/21	OMIM:309590
10075	HUWE1	HP:0000218	High palate	1/21	OMIM:309590
10075	HUWE1	HP:0001518	Small for gestational age	-	OMIM:309590
10075	HUWE1	HP:0012385	Camptodactyly	-	OMIM:309590
10075	HUWE1	HP:0000378	Cupped ear	-	OMIM:309590
10075	HUWE1	HP:0000365	Hearing impairment	4/18	OMIM:309590
10075	HUWE1	HP:0000358	Posteriorly rotated ears	8/19	OMIM:309590
10075	HUWE1	HP:0000369	Low-set ears	7/19	OMIM:309590
10075	HUWE1	HP:0000343	Long philtrum	-	OMIM:309590
10075	HUWE1	HP:0000348	High forehead	13/21	OMIM:309590
10075	HUWE1	HP:0000347	Micrognathia	-	OMIM:309590
10075	HUWE1	HP:0000316	Hypertelorism	7/21	OMIM:309590
10075	HUWE1	HP:0000322	Short philtrum	10/21	OMIM:309590
10075	HUWE1	HP:0000325	Triangular face	-	OMIM:309590
10075	HUWE1	HP:0005280	Depressed nasal bridge	-	OMIM:309590
10075	HUWE1	HP:0000486	Strabismus	13/21	OMIM:309590
10075	HUWE1	HP:0000494	Downslanted palpebral fissures	-	OMIM:309590
10075	HUWE1	HP:0000490	Deeply set eye	15/21	OMIM:309590
10075	HUWE1	HP:0001792	Small nail	4/19	OMIM:309590
10075	HUWE1	HP:0000455	Broad nasal tip	15/21	OMIM:309590
10075	HUWE1	HP:0001773	Short foot	-	OMIM:309590
10075	HUWE1	HP:0000414	Bulbous nose	-	OMIM:309590
10075	HUWE1	HP:0000411	Protruding ear	-	OMIM:309590
10075	HUWE1	HP:0001845	Overlapping toe	9/21	OMIM:309590
10075	HUWE1	HP:0000508	Ptosis	-	OMIM:309590
10075	HUWE1	HP:0000582	Upslanted palpebral fissure	-	OMIM:309590
10075	HUWE1	HP:0000581	Blepharophimosis	12/21	OMIM:309590
10075	HUWE1	HP:0000565	Esotropia	-	OMIM:309590
10075	HUWE1	HP:0000540	Hypermetropia	7/21	OMIM:309590
10075	HUWE1	HP:0000537	Epicanthus inversus	-	OMIM:309590
10075	HUWE1	HP:0000545	Myopia	-	OMIM:309590
10079	ATP9A	HP:0010863	Receptive language delay	3/3	OMIM:620242
10079	ATP9A	HP:0010864	Intellectual disability, severe	7/9	OMIM:620242
10079	ATP9A	HP:0001270	Motor delay	6/6	OMIM:620242
10079	ATP9A	HP:0001256	Intellectual disability, mild	2/3	OMIM:620242
10079	ATP9A	HP:0001250	Seizure	1/3	OMIM:620242
10079	ATP9A	HP:0001252	Hypotonia	3/3	OMIM:620242
10079	ATP9A	HP:0033838	Dysphoria	1/3	OMIM:620242
10079	ATP9A	HP:0008897	Postnatal growth retardation	3/3	OMIM:620242
10079	ATP9A	HP:0001324	Muscle weakness	3/3	OMIM:620242
10079	ATP9A	HP:0001344	Absent speech	3/3	OMIM:620242
10079	ATP9A	HP:0000007	Autosomal recessive inheritance	-	OMIM:620242
10079	ATP9A	HP:0001320	Cerebellar vermis hypoplasia	1/2	OMIM:620242
10079	ATP9A	HP:0002020	Gastroesophageal reflux	3/3	OMIM:620242
10079	ATP9A	HP:0002017	Nausea and vomiting	3/3	OMIM:620242
10079	ATP9A	HP:0011808	Decreased patellar reflex	2/3	OMIM:620242
10079	ATP9A	HP:0002079	Hypoplasia of the corpus callosum	1/2	OMIM:620242
10079	ATP9A	HP:0002188	Delayed CNS myelination	1/2	OMIM:620242
10079	ATP9A	HP:0003593	Infantile onset	5/6	OMIM:620242
10079	ATP9A	HP:0003577	Congenital onset	1/3	OMIM:620242
10079	ATP9A	HP:0007010	Poor fine motor coordination	6/6	OMIM:620242
10079	ATP9A	HP:0007018	Attention deficit hyperactivity disorder	5/5	OMIM:620242
10079	ATP9A	HP:0002360	Sleep abnormality	5/6	OMIM:620242
10079	ATP9A	HP:0002370	Poor coordination	3/3	OMIM:620242
10079	ATP9A	HP:0000752	Hyperactivity	1/3	OMIM:620242
10079	ATP9A	HP:0000733	Motor stereotypy	1/1	OMIM:620242
10079	ATP9A	HP:0000736	Short attention span	3/3	OMIM:620242
10079	ATP9A	HP:0000750	Delayed speech and language development	6/6	OMIM:620242
10079	ATP9A	HP:0000716	Depression	1/3	OMIM:620242
10079	ATP9A	HP:0000718	Aggressive behavior	2/2	OMIM:620242
10079	ATP9A	HP:0000729	Autistic behavior	1/3	OMIM:620242
10079	ATP9A	HP:0011463	Childhood onset	3/3	OMIM:620242
10079	ATP9A	HP:0005709	2-3 toe cutaneous syndactyly	2/3	OMIM:620242
10079	ATP9A	HP:0000286	Epicanthus	1/3	OMIM:620242
10079	ATP9A	HP:0000219	Thin upper lip vermilion	3/3	OMIM:620242
10079	ATP9A	HP:0000218	High palate	1/3	OMIM:620242
10079	ATP9A	HP:0001508	Failure to thrive	3/3	OMIM:620242
10079	ATP9A	HP:0001684	Secundum atrial septal defect	1/3	OMIM:620242
10079	ATP9A	HP:0000319	Smooth philtrum	3/3	OMIM:620242
10079	ATP9A	HP:0000486	Strabismus	3/6	OMIM:620242
10079	ATP9A	HP:0005484	Secondary microcephaly	5/9	OMIM:620242
10082	GPC6	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:93329
10082	GPC6	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
10082	GPC6	HP:0001293	Cranial nerve compression	-	OMIM:131300
10082	GPC6	HP:0001252	Hypotonia	2/7	OMIM:615777
10082	GPC6	HP:0001249	Intellectual disability	HP:0040283	ORPHA:93329
10082	GPC6	HP:0001249	Intellectual disability	5/7	OMIM:615777
10082	GPC6	HP:0001263	Global developmental delay	-	OMIM:615777
10082	GPC6	HP:0002515	Waddling gait	54/102	OMIM:131300
10082	GPC6	HP:0008800	Limited hip movement	-	OMIM:258315
10082	GPC6	HP:0001377	Limited elbow extension	-	OMIM:258315
10082	GPC6	HP:0001382	Joint hypermobility	-	OMIM:615777
10082	GPC6	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:93329
10082	GPC6	HP:0002694	Sclerosis of skull base	-	OMIM:131300
10082	GPC6	HP:0000028	Cryptorchidism	-	OMIM:258315
10082	GPC6	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:93329
10082	GPC6	HP:0008897	Postnatal growth retardation	-	OMIM:615777
10082	GPC6	HP:0008873	Disproportionate short-limb short stature	-	OMIM:258315
10082	GPC6	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
10082	GPC6	HP:0001324	Muscle weakness	40/96	OMIM:131300
10082	GPC6	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
10082	GPC6	HP:0000007	Autosomal recessive inheritance	-	OMIM:258315
10082	GPC6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
10082	GPC6	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
10082	GPC6	HP:0002650	Scoliosis	12/14	OMIM:131300
10082	GPC6	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
10082	GPC6	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
10082	GPC6	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
10082	GPC6	HP:0008905	Rhizomelia	-	OMIM:258315
10082	GPC6	HP:0008905	Rhizomelia	HP:0040281	ORPHA:93329
10082	GPC6	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
10082	GPC6	HP:0000175	Cleft palate	2/7	OMIM:615777
10082	GPC6	HP:0005025	Hypoplastic distal humeri	-	OMIM:258315
10082	GPC6	HP:0005025	Hypoplastic distal humeri	HP:0040281	ORPHA:93329
10082	GPC6	HP:0012107	Increased fibular diameter	-	OMIM:258315
10082	GPC6	HP:0002007	Frontal bossing	-	OMIM:258315
10082	GPC6	HP:0002007	Frontal bossing	HP:0040281	ORPHA:93329
10082	GPC6	HP:0003388	Easy fatigability	36/76	OMIM:131300
10082	GPC6	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
10082	GPC6	HP:0100790	Hernia	HP:0040283	ORPHA:93329
10082	GPC6	HP:0003510	Severe short stature	7/7	OMIM:615777
10082	GPC6	HP:0001060	Axillary pterygium	-	OMIM:258315
10082	GPC6	HP:0001059	Pterygium	HP:0040283	ORPHA:93329
10082	GPC6	HP:0001028	Hemangioma	-	OMIM:258315
10082	GPC6	HP:0002315	Headache	-	OMIM:131300
10082	GPC6	HP:0004976	Knee dislocation	6/7	OMIM:615777
10082	GPC6	HP:0009803	Short phalanx of finger	-	OMIM:615777
10082	GPC6	HP:0009763	Limb pain	63/92	OMIM:131300
10082	GPC6	HP:0009756	Popliteal pterygium	-	OMIM:258315
10082	GPC6	HP:0003621	Juvenile onset	-	OMIM:131300
10082	GPC6	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
10082	GPC6	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
10082	GPC6	HP:6001056	Out-toeing	-	OMIM:131300
10082	GPC6	HP:0000651	Diplopia	-	OMIM:131300
10082	GPC6	HP:0001956	Truncal obesity	2/7	OMIM:615777
10082	GPC6	HP:0001903	Anemia	HP:0040283	OMIM:131300
10082	GPC6	HP:0010049	Short metacarpal	-	OMIM:615777
10082	GPC6	HP:0000678	Dental crowding	-	OMIM:615777
10082	GPC6	HP:0000670	Carious teeth	-	OMIM:131300
10082	GPC6	HP:0011304	Broad thumb	2/7	OMIM:615777
10082	GPC6	HP:0000668	Hypodontia	-	OMIM:615777
10082	GPC6	HP:0000664	Synophrys	-	OMIM:615777
10082	GPC6	HP:0004322	Short stature	HP:0040281	ORPHA:93329
10082	GPC6	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:93329
10082	GPC6	HP:0003066	Limited knee extension	-	OMIM:258315
10082	GPC6	HP:0004396	Poor appetite	-	OMIM:131300
10082	GPC6	HP:0003038	Fibular hypoplasia	-	OMIM:258315
10082	GPC6	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
10082	GPC6	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
10082	GPC6	HP:0003042	Elbow dislocation	HP:0040281	ORPHA:93329
10082	GPC6	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
10082	GPC6	HP:0003026	Short long bone	7/7	OMIM:615777
10082	GPC6	HP:0003027	Mesomelia	HP:0040282	ORPHA:93329
10082	GPC6	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
10082	GPC6	HP:0000767	Pectus excavatum	2/7	OMIM:615777
10082	GPC6	HP:0000768	Pectus carinatum	1/7	OMIM:615777
10082	GPC6	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
10082	GPC6	HP:0000750	Delayed speech and language development	-	OMIM:615777
10082	GPC6	HP:0011461	Fetal onset	7/7	OMIM:615777
10082	GPC6	HP:0000774	Narrow chest	2/7	OMIM:615777
10082	GPC6	HP:0004415	Pulmonary artery stenosis	-	OMIM:258315
10082	GPC6	HP:0005736	Short tibia	-	OMIM:258315
10082	GPC6	HP:0003196	Short nose	-	OMIM:258315
10082	GPC6	HP:0003196	Short nose	HP:0040283	ORPHA:93329
10082	GPC6	HP:0000926	Platyspondyly	1/7	OMIM:615777
10082	GPC6	HP:0003180	Flat acetabular roof	-	OMIM:615777
10082	GPC6	HP:0004482	Relative macrocephaly	-	OMIM:615777
10082	GPC6	HP:0005792	Short humerus	-	OMIM:258315
10082	GPC6	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
10082	GPC6	HP:0000823	Delayed puberty	-	OMIM:131300
10082	GPC6	HP:0000894	Short clavicles	-	OMIM:615777
10082	GPC6	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
10082	GPC6	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
10082	GPC6	HP:0045025	Narrow palpebral fissure	-	OMIM:258315
10082	GPC6	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:93329
10082	GPC6	HP:0000286	Epicanthus	-	OMIM:258315
10082	GPC6	HP:0000286	Epicanthus	1/7	OMIM:615777
10082	GPC6	HP:0000280	Coarse facial features	2/7	OMIM:615777
10082	GPC6	HP:0000272	Malar flattening	-	OMIM:258315
10082	GPC6	HP:0002818	Abnormal morphology of the radius	HP:0040281	ORPHA:93329
10082	GPC6	HP:0002827	Hip dislocation	3/7	OMIM:615777
10082	GPC6	HP:0002823	Abnormal femur morphology	HP:0040282	ORPHA:93329
10082	GPC6	HP:0005085	Limited knee flexion/extension	-	OMIM:258315
10082	GPC6	HP:0005050	Anterolateral radial head dislocation	-	OMIM:258315
10082	GPC6	HP:0005060	Limited elbow flexion/extension	-	OMIM:258315
10082	GPC6	HP:0006389	Limited knee flexion	-	OMIM:258315
10082	GPC6	HP:0006376	Limited elbow flexion	-	OMIM:258315
10082	GPC6	HP:0000252	Microcephaly	-	OMIM:615777
10082	GPC6	HP:0002857	Genu valgum	-	OMIM:131300
10082	GPC6	HP:0001537	Umbilical hernia	-	OMIM:258315
10082	GPC6	HP:0001533	Slender build	-	OMIM:131300
10082	GPC6	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
10082	GPC6	HP:0007807	Optic nerve compression	-	OMIM:131300
10082	GPC6	HP:0012368	Flat face	-	OMIM:258315
10082	GPC6	HP:0012368	Flat face	7/7	OMIM:615777
10082	GPC6	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
10082	GPC6	HP:0000365	Hearing impairment	10/67	OMIM:131300
10082	GPC6	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:93329
10082	GPC6	HP:0000369	Low-set ears	HP:0040281	ORPHA:93329
10082	GPC6	HP:0000343	Long philtrum	-	OMIM:258315
10082	GPC6	HP:0000343	Long philtrum	1/7	OMIM:615777
10082	GPC6	HP:0000343	Long philtrum	HP:0040281	ORPHA:93329
10082	GPC6	HP:0011001	Increased bone mineral density	-	OMIM:131300
10082	GPC6	HP:0000347	Micrognathia	-	OMIM:258315
10082	GPC6	HP:0000347	Micrognathia	HP:0040282	ORPHA:93329
10082	GPC6	HP:0002983	Micromelia	HP:0040282	ORPHA:93329
10082	GPC6	HP:0000311	Round face	2/7	OMIM:615777
10082	GPC6	HP:0001629	Ventricular septal defect	-	OMIM:258315
10082	GPC6	HP:0002970	Genu varum	-	OMIM:615777
10082	GPC6	HP:0001631	Atrial septal defect	-	OMIM:258315
10082	GPC6	HP:0000303	Mandibular prognathia	-	OMIM:131300
10082	GPC6	HP:0005280	Depressed nasal bridge	-	OMIM:258315
10082	GPC6	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
10082	GPC6	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:93329
10082	GPC6	HP:0000463	Anteverted nares	HP:0040281	ORPHA:93329
10082	GPC6	HP:0000470	Short neck	-	OMIM:258315
10082	GPC6	HP:0000470	Short neck	1/7	OMIM:615777
10082	GPC6	HP:0001769	Broad foot	HP:0040283	OMIM:615777
10082	GPC6	HP:0001763	Pes planus	1/7	OMIM:615777
10082	GPC6	HP:0000431	Wide nasal bridge	-	OMIM:258315
10082	GPC6	HP:0001840	Metatarsus adductus	-	OMIM:615777
10082	GPC6	HP:0000520	Proptosis	2/4	OMIM:131300
10082	GPC6	HP:0000520	Proptosis	7/7	OMIM:615777
10082	GPC6	HP:0000581	Blepharophimosis	-	OMIM:258315
10082	GPC6	HP:0000592	Blue sclerae	2/7	OMIM:615777
10082	GPC6	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
10082	GPC6	HP:0012514	Lower limb pain	4/4	OMIM:131300
10083	USH1C	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
10083	USH1C	HP:0008555	Absent vestibular function	-	OMIM:276900
10083	USH1C	HP:0001270	Motor delay	-	OMIM:276900
10083	USH1C	HP:0001251	Ataxia	HP:0040281	ORPHA:231169
10083	USH1C	HP:0001249	Intellectual disability	HP:0040281	ORPHA:231169
10083	USH1C	HP:0001263	Global developmental delay	HP:0040281	ORPHA:231169
10083	USH1C	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:231169
10083	USH1C	HP:0000007	Autosomal recessive inheritance	-	OMIM:276900
10083	USH1C	HP:0000007	Autosomal recessive inheritance	-	OMIM:276904
10083	USH1C	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
10083	USH1C	HP:0000007	Autosomal recessive inheritance	-	OMIM:602092
10083	USH1C	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
10083	USH1C	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:231169
10083	USH1C	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
10083	USH1C	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
10083	USH1C	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:231169
10083	USH1C	HP:0003593	Infantile onset	1/1	OMIM:276900
10083	USH1C	HP:0100753	Schizophrenia	HP:0040282	ORPHA:231169
10083	USH1C	HP:0008527	Congenital sensorineural hearing impairment	-	OMIM:276904
10083	USH1C	HP:0008499	High hypermetropia	HP:0040282	ORPHA:231169
10083	USH1C	HP:0003621	Juvenile onset	8/19	OMIM:180100
10083	USH1C	HP:0000639	Nystagmus	1/1	OMIM:276900
10083	USH1C	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:231169
10083	USH1C	HP:0000662	Nyctalopia	26/28	OMIM:180100
10083	USH1C	HP:0000662	Nyctalopia	HP:0040281	ORPHA:231169
10083	USH1C	HP:0000738	Hallucinations	HP:0040283	ORPHA:231169
10083	USH1C	HP:0000739	Anxiety	HP:0040283	ORPHA:231169
10083	USH1C	HP:0000716	Depression	HP:0040283	ORPHA:231169
10083	USH1C	HP:0011463	Childhood onset	3/19	OMIM:180100
10083	USH1C	HP:0011462	Young adult onset	8/19	OMIM:180100
10083	USH1C	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
10083	USH1C	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:231169
10083	USH1C	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
10083	USH1C	HP:0012377	Hemianopia	HP:0040281	ORPHA:231169
10083	USH1C	HP:0000375	Abnormal cochlea morphology	HP:0040281	ORPHA:231169
10083	USH1C	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:276900
10083	USH1C	HP:0000407	Sensorineural hearing impairment	-	OMIM:602092
10083	USH1C	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:231169
10083	USH1C	HP:0001756	Vestibular hyporeflexia	HP:0040281	ORPHA:231169
10083	USH1C	HP:0001756	Vestibular hyporeflexia	-	OMIM:276904
10083	USH1C	HP:0000518	Cataract	HP:0040282	ORPHA:231169
10083	USH1C	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
10083	USH1C	HP:0000510	Rod-cone dystrophy	1/1	OMIM:276900
10083	USH1C	HP:0000510	Rod-cone dystrophy	-	OMIM:276904
10083	USH1C	HP:0000512	Abnormal electroretinogram	1/1	OMIM:276900
10083	USH1C	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:231169
10083	USH1C	HP:0000575	Scotoma	HP:0040281	ORPHA:231169
10083	USH1C	HP:0000575	Scotoma	5/18	OMIM:180100
10083	USH1C	HP:0000572	Visual loss	1/1	OMIM:276900
10083	USH1C	HP:0000572	Visual loss	HP:0040281	ORPHA:231169
10083	USH1C	HP:0000550	Undetectable electroretinogram	-	OMIM:276900
10083	USH1C	HP:0000543	Optic disc pallor	1/1	OMIM:180100
10083	USH1C	HP:0000545	Myopia	-	OMIM:180100
10084	PQBP1	HP:0001166	Arachnodactyly	HP:0040281	ORPHA:93946
10084	PQBP1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:93950
10084	PQBP1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:93950
10084	PQBP1	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:93945
10084	PQBP1	HP:0001250	Seizure	5/44	OMIM:309500
10084	PQBP1	HP:0001250	Seizure	HP:0040283	ORPHA:93947
10084	PQBP1	HP:0001249	Intellectual disability	-	OMIM:309500
10084	PQBP1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:93946
10084	PQBP1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:93947
10084	PQBP1	HP:0001264	Spastic diplegia	HP:0040282	ORPHA:93947
10084	PQBP1	HP:0001263	Global developmental delay	52/55	OMIM:309500
10084	PQBP1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:93950
10084	PQBP1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:93945
10084	PQBP1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:93946
10084	PQBP1	HP:0001257	Spasticity	HP:0040282	ORPHA:93950
10084	PQBP1	HP:0001257	Spasticity	HP:0040282	ORPHA:93947
10084	PQBP1	HP:0001257	Spasticity	13/33	OMIM:309500
10084	PQBP1	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:93950
10084	PQBP1	HP:0008734	Decreased testicular size	10/28	OMIM:309500
10084	PQBP1	HP:0003819	Death in childhood	4/52	OMIM:309500
10084	PQBP1	HP:0000089	Renal hypoplasia	HP:0040283	OMIM:309500
10084	PQBP1	HP:0000047	Hypospadias	2/24	OMIM:309500
10084	PQBP1	HP:0001347	Hyperreflexia	-	OMIM:309500
10084	PQBP1	HP:0002650	Scoliosis	-	OMIM:309500
10084	PQBP1	HP:0000160	Narrow mouth	HP:0040281	ORPHA:93946
10084	PQBP1	HP:0000160	Narrow mouth	3/30	OMIM:309500
10084	PQBP1	HP:0000158	Macroglossia	HP:0040281	ORPHA:93947
10084	PQBP1	HP:0000175	Cleft palate	HP:0040281	ORPHA:93946
10084	PQBP1	HP:0000175	Cleft palate	5/49	OMIM:309500
10084	PQBP1	HP:0001419	X-linked recessive inheritance	-	OMIM:309500
10084	PQBP1	HP:0002023	Anal atresia	HP:0040283	ORPHA:93950
10084	PQBP1	HP:0002023	Anal atresia	3/49	OMIM:309500
10084	PQBP1	HP:0002033	Poor suck	-	OMIM:309500
10084	PQBP1	HP:0002059	Cerebral atrophy	-	OMIM:309500
10084	PQBP1	HP:0009473	Joint contracture of the hand	-	OMIM:309500
10084	PQBP1	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:93947
10084	PQBP1	HP:0002299	Brittle hair	HP:0040282	ORPHA:93947
10084	PQBP1	HP:0002299	Brittle hair	2/22	OMIM:309500
10084	PQBP1	HP:0002292	Frontal balding	HP:0040282	ORPHA:93945
10084	PQBP1	HP:0009640	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	-	OMIM:309500
10084	PQBP1	HP:0009765	Low hanging columella	6/27	OMIM:309500
10084	PQBP1	HP:0004209	Clinodactyly of the 5th finger	2/22	OMIM:309500
10084	PQBP1	HP:0000618	Blindness	2/50	OMIM:309500
10084	PQBP1	HP:0011359	Dry hair	HP:0040282	ORPHA:93947
10084	PQBP1	HP:0004325	Decreased body weight	HP:0040281	ORPHA:93950
10084	PQBP1	HP:0004325	Decreased body weight	HP:0040282	ORPHA:93945
10084	PQBP1	HP:0004322	Short stature	21/36	OMIM:309500
10084	PQBP1	HP:0004322	Short stature	HP:0040282	ORPHA:93950
10084	PQBP1	HP:0004322	Short stature	HP:0040282	ORPHA:93945
10084	PQBP1	HP:0004322	Short stature	HP:0040281	ORPHA:93946
10084	PQBP1	HP:0004322	Short stature	HP:0040281	ORPHA:93947
10084	PQBP1	HP:0000767	Pectus excavatum	1/15	OMIM:309500
10084	PQBP1	HP:0000739	Anxiety	-	OMIM:309500
10084	PQBP1	HP:0008070	Sparse hair	-	OMIM:309500
10084	PQBP1	HP:0000286	Epicanthus	HP:0040282	ORPHA:93947
10084	PQBP1	HP:0000286	Epicanthus	4/12	OMIM:309500
10084	PQBP1	HP:0000275	Narrow face	HP:0040283	ORPHA:93950
10084	PQBP1	HP:0000275	Narrow face	HP:0040282	ORPHA:93945
10084	PQBP1	HP:0000275	Narrow face	HP:0040281	ORPHA:93947
10084	PQBP1	HP:0000275	Narrow face	19/32	OMIM:309500
10084	PQBP1	HP:0000276	Long face	HP:0040283	ORPHA:93950
10084	PQBP1	HP:0000276	Long face	HP:0040282	ORPHA:93945
10084	PQBP1	HP:0000276	Long face	HP:0040281	ORPHA:93947
10084	PQBP1	HP:0000276	Long face	-	OMIM:309500
10084	PQBP1	HP:0000272	Malar flattening	HP:0040281	ORPHA:93946
10084	PQBP1	HP:0000272	Malar flattening	-	OMIM:309500
10084	PQBP1	HP:0001572	Macrodontia	1/9	OMIM:309500
10084	PQBP1	HP:0000252	Microcephaly	38/44	OMIM:309500
10084	PQBP1	HP:0000252	Microcephaly	HP:0040281	ORPHA:93950
10084	PQBP1	HP:0000252	Microcephaly	HP:0040281	ORPHA:93946
10084	PQBP1	HP:0000252	Microcephaly	HP:0040281	ORPHA:93947
10084	PQBP1	HP:0000248	Brachycephaly	HP:0040282	ORPHA:93950
10084	PQBP1	HP:0000248	Brachycephaly	8/18	OMIM:309500
10084	PQBP1	HP:0000219	Thin upper lip vermilion	-	OMIM:309500
10084	PQBP1	HP:0000218	High palate	7/29	OMIM:309500
10084	PQBP1	HP:0001522	Death in infancy	HP:0040281	ORPHA:93946
10084	PQBP1	HP:0001518	Small for gestational age	HP:0040282	ORPHA:93950
10084	PQBP1	HP:0001510	Growth delay	HP:0040281	ORPHA:93947
10084	PQBP1	HP:0012385	Camptodactyly	-	OMIM:309500
10084	PQBP1	HP:0000378	Cupped ear	HP:0040282	ORPHA:93945
10084	PQBP1	HP:0000378	Cupped ear	HP:0040281	ORPHA:93946
10084	PQBP1	HP:0000378	Cupped ear	HP:0040281	ORPHA:93947
10084	PQBP1	HP:0000378	Cupped ear	13/23	OMIM:309500
10084	PQBP1	HP:0001611	Hypernasal speech	-	OMIM:309500
10084	PQBP1	HP:0001696	Situs inversus totalis	1/49	OMIM:309500
10084	PQBP1	HP:0000365	Hearing impairment	1/36	OMIM:309500
10084	PQBP1	HP:0000347	Micrognathia	HP:0040281	ORPHA:93946
10084	PQBP1	HP:0000347	Micrognathia	-	OMIM:309500
10084	PQBP1	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:93950
10084	PQBP1	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:93945
10084	PQBP1	HP:0000322	Short philtrum	HP:0040282	ORPHA:93945
10084	PQBP1	HP:0000322	Short philtrum	14/20	OMIM:309500
10084	PQBP1	HP:0000325	Triangular face	HP:0040281	ORPHA:93947
10084	PQBP1	HP:0000325	Triangular face	-	OMIM:309500
10084	PQBP1	HP:0001629	Ventricular septal defect	-	OMIM:309500
10084	PQBP1	HP:0001636	Tetralogy of Fallot	-	OMIM:309500
10084	PQBP1	HP:0001631	Atrial septal defect	HP:0040281	ORPHA:93946
10084	PQBP1	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:93947
10084	PQBP1	HP:0001631	Atrial septal defect	-	OMIM:309500
10084	PQBP1	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:93950
10084	PQBP1	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:93945
10084	PQBP1	HP:0000303	Mandibular prognathia	9/28	OMIM:309500
10084	PQBP1	HP:0005338	Sparse lateral eyebrow	-	OMIM:309500
10084	PQBP1	HP:0000400	Macrotia	HP:0040283	ORPHA:93950
10084	PQBP1	HP:0000400	Macrotia	HP:0040282	ORPHA:93945
10084	PQBP1	HP:0000400	Macrotia	4/30	OMIM:309500
10084	PQBP1	HP:0000486	Strabismus	HP:0040283	ORPHA:93950
10084	PQBP1	HP:0000486	Strabismus	HP:0040282	ORPHA:93945
10084	PQBP1	HP:0000486	Strabismus	3/11	OMIM:309500
10084	PQBP1	HP:0001786	Narrow foot	-	OMIM:309500
10084	PQBP1	HP:0000414	Bulbous nose	HP:0040282	ORPHA:93945
10084	PQBP1	HP:0000414	Bulbous nose	HP:0040281	ORPHA:93946
10084	PQBP1	HP:0000414	Bulbous nose	5/34	OMIM:309500
10084	PQBP1	HP:0000411	Protruding ear	HP:0040281	ORPHA:93947
10084	PQBP1	HP:0000411	Protruding ear	-	OMIM:309500
10084	PQBP1	HP:0001741	Phimosis	-	OMIM:309500
10084	PQBP1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:93946
10084	PQBP1	HP:0000431	Wide nasal bridge	-	OMIM:309500
10084	PQBP1	HP:0001761	Pes cavus	-	OMIM:309500
10084	PQBP1	HP:0000518	Cataract	-	OMIM:309500
10084	PQBP1	HP:0000506	Telecanthus	2/14	OMIM:309500
10084	PQBP1	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:93950
10084	PQBP1	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:93947
10084	PQBP1	HP:0000582	Upslanted palpebral fissure	14/31	OMIM:309500
10084	PQBP1	HP:0000589	Coloboma	2/49	OMIM:309500
10084	PQBP1	HP:0000568	Microphthalmia	HP:0040283	OMIM:309500
10084	PQBP1	HP:0000540	Hypermetropia	-	OMIM:309500
10087	CERT1	HP:0003763	Bruxism	1/3	OMIM:616351
10087	CERT1	HP:0001249	Intellectual disability	3/3	OMIM:616351
10087	CERT1	HP:0001263	Global developmental delay	3/3	OMIM:616351
10087	CERT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616351
10087	CERT1	HP:0001488	Bilateral ptosis	1/3	OMIM:616351
10087	CERT1	HP:0008936	Axial hypotonia	1/3	OMIM:616351
10087	CERT1	HP:0004691	2-3 toe syndactyly	1/3	OMIM:616351
10087	CERT1	HP:0002069	Bilateral tonic-clonic seizure	2/3	OMIM:616351
10087	CERT1	HP:0002058	Myopathic facies	1/3	OMIM:616351
10087	CERT1	HP:0002136	Broad-based gait	1/3	OMIM:616351
10087	CERT1	HP:0100704	Cerebral visual impairment	1/3	OMIM:616351
10087	CERT1	HP:0002212	Curly hair	1/3	OMIM:616351
10087	CERT1	HP:0002208	Coarse hair	1/3	OMIM:616351
10087	CERT1	HP:0002307	Drooling	1/3	OMIM:616351
10087	CERT1	HP:0000687	Widely spaced teeth	1/3	OMIM:616351
10087	CERT1	HP:0000664	Synophrys	1/3	OMIM:616351
10087	CERT1	HP:0000733	Motor stereotypy	1/3	OMIM:616351
10087	CERT1	HP:0000286	Epicanthus	2/3	OMIM:616351
10087	CERT1	HP:0001562	Oligohydramnios	1/3	OMIM:616351
10087	CERT1	HP:0000365	Hearing impairment	1/3	OMIM:616351
10087	CERT1	HP:0000319	Smooth philtrum	1/3	OMIM:616351
10087	CERT1	HP:0006610	Wide intermamillary distance	1/3	OMIM:616351
10087	CERT1	HP:0000463	Anteverted nares	1/3	OMIM:616351
10087	CERT1	HP:0001773	Short foot	1/3	OMIM:616351
10087	CERT1	HP:0005484	Secondary microcephaly	1/3	OMIM:616351
10087	CERT1	HP:0000582	Upslanted palpebral fissure	1/3	OMIM:616351
10092	ARPC5	HP:0001263	Global developmental delay	1/2	OMIM:620565
10092	ARPC5	HP:0002590	Paralytic ileus	1/2	OMIM:620565
10092	ARPC5	HP:0001257	Spasticity	1/2	OMIM:620565
10092	ARPC5	HP:0002573	Hematochezia	2/2	OMIM:620565
10092	ARPC5	HP:0000007	Autosomal recessive inheritance	-	OMIM:620565
10092	ARPC5	HP:0002650	Scoliosis	2/2	OMIM:620565
10092	ARPC5	HP:0032435	Neonatal omphalitis	1/2	OMIM:620565
10092	ARPC5	HP:0002608	Celiac disease	1/2	OMIM:620565
10092	ARPC5	HP:0012115	Hepatitis	1/2	OMIM:620565
10092	ARPC5	HP:0025419	Pulmonary pneumatocele	2/2	OMIM:620565
10092	ARPC5	HP:0002718	Recurrent bacterial infections	2/2	OMIM:620565
10092	ARPC5	HP:0002721	Immunodeficiency	2/2	OMIM:620565
10092	ARPC5	HP:0002105	Hemoptysis	1/2	OMIM:620565
10092	ARPC5	HP:0011897	Increased total neutrophil count	2/2	OMIM:620565
10092	ARPC5	HP:0003593	Infantile onset	1/2	OMIM:620565
10092	ARPC5	HP:0002240	Hepatomegaly	2/2	OMIM:620565
10092	ARPC5	HP:0002205	Recurrent respiratory infections	2/2	OMIM:620565
10092	ARPC5	HP:0001058	Poor wound healing	2/2	OMIM:620565
10092	ARPC5	HP:0100614	Myositis	1/2	OMIM:620565
10092	ARPC5	HP:0003623	Neonatal onset	1/2	OMIM:620565
10092	ARPC5	HP:0001973	Autoimmune thrombocytopenia	1/2	OMIM:620565
10092	ARPC5	HP:0001974	Increased total leukocyte count	2/2	OMIM:620565
10092	ARPC5	HP:0004322	Short stature	1/2	OMIM:620565
10092	ARPC5	HP:0004429	Recurrent viral infections	1/2	OMIM:620565
10092	ARPC5	HP:0003212	Increased circulating IgE concentration	1/2	OMIM:620565
10092	ARPC5	HP:0003261	Increased circulating IgA concentration	2/2	OMIM:620565
10092	ARPC5	HP:0000964	Eczematoid dermatitis	1/2	OMIM:620565
10092	ARPC5	HP:0001511	Intrauterine growth retardation	1/2	OMIM:620565
10092	ARPC5	HP:0002841	Recurrent fungal infections	1/2	OMIM:620565
10092	ARPC5	HP:0006517	Intraalveolar phospholipid accumulation	1/2	OMIM:620565
10092	ARPC5	HP:0012311	Increased total monocyte count	2/2	OMIM:620565
10092	ARPC5	HP:0001744	Splenomegaly	2/2	OMIM:620565
10092	ARPC5	HP:0012579	Minimal change glomerulonephritis	1/2	OMIM:620565
10092	ARPC5	HP:0011227	Elevated circulating C-reactive protein concentration	2/2	OMIM:620565
10092	ARPC5	HP:0001890	Autoimmune hemolytic anemia	1/2	OMIM:620565
10093	ARPC4	HP:0002475	Myelomeningocele	1/7	OMIM:620141
10093	ARPC4	HP:0025161	Frequent temper tantrums	1/7	OMIM:620141
10093	ARPC4	HP:0001270	Motor delay	6/7	OMIM:620141
10093	ARPC4	HP:0001256	Intellectual disability, mild	-	OMIM:620141
10093	ARPC4	HP:0007380	Facial telangiectasia	2/7	OMIM:620141
10093	ARPC4	HP:0000023	Inguinal hernia	1/7	OMIM:620141
10093	ARPC4	HP:0000006	Autosomal dominant inheritance	-	OMIM:620141
10093	ARPC4	HP:0002650	Scoliosis	1/7	OMIM:620141
10093	ARPC4	HP:0500041	Myopic astigmatism	1/7	OMIM:620141
10093	ARPC4	HP:0000126	Hydronephrosis	-	OMIM:620141
10093	ARPC4	HP:0002144	Tethered cord	1/7	OMIM:620141
10093	ARPC4	HP:0002186	Apraxia	1/7	OMIM:620141
10093	ARPC4	HP:0003593	Infantile onset	7/7	OMIM:620141
10093	ARPC4	HP:0100704	Cerebral visual impairment	2/7	OMIM:620141
10093	ARPC4	HP:0100710	Impulsivity	1/7	OMIM:620141
10093	ARPC4	HP:0007018	Attention deficit hyperactivity disorder	2/7	OMIM:620141
10093	ARPC4	HP:0020046	Accommodative esotropia	1/7	OMIM:620141
10093	ARPC4	HP:0004322	Short stature	1/7	OMIM:620141
10093	ARPC4	HP:0000752	Hyperactivity	1/7	OMIM:620141
10093	ARPC4	HP:0000733	Motor stereotypy	1/7	OMIM:620141
10093	ARPC4	HP:0000750	Delayed speech and language development	7/7	OMIM:620141
10093	ARPC4	HP:0000718	Aggressive behavior	1/7	OMIM:620141
10093	ARPC4	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	1/7	OMIM:620141
10093	ARPC4	HP:0000252	Microcephaly	6/7	OMIM:620141
10093	ARPC4	HP:0001642	Pulmonic stenosis	1/7	OMIM:620141
10093	ARPC4	HP:0000486	Strabismus	4/7	OMIM:620141
10093	ARPC4	HP:0000519	Developmental cataract	1/7	OMIM:620141
10093	ARPC4	HP:0000577	Exotropia	1/7	OMIM:620141
10095	ARPC1B	HP:0032229	Perinuclear antineutrophil antibody positivity	3/3	OMIM:617718
10095	ARPC1B	HP:0100827	Increased total lymphocyte count	-	OMIM:617718
10095	ARPC1B	HP:0001287	Meningitis	1/3	OMIM:617718
10095	ARPC1B	HP:0002573	Hematochezia	1/3	OMIM:617718
10095	ARPC1B	HP:0025289	Cervical lymphadenopathy	1/3	OMIM:617718
10095	ARPC1B	HP:0000007	Autosomal recessive inheritance	-	OMIM:617718
10095	ARPC1B	HP:0002633	Vasculitis	-	OMIM:617718
10095	ARPC1B	HP:0002719	Recurrent infections	-	OMIM:617718
10095	ARPC1B	HP:0002716	Lymphadenopathy	-	OMIM:617718
10095	ARPC1B	HP:0002037	Inflammation of the large intestine	1/3	OMIM:617718
10095	ARPC1B	HP:0003493	Antinuclear antibody positivity	2/3	OMIM:617718
10095	ARPC1B	HP:0011896	Subconjunctival hemorrhage	1/3	OMIM:617718
10095	ARPC1B	HP:0003593	Infantile onset	3/3	OMIM:617718
10095	ARPC1B	HP:0003565	Elevated erythrocyte sedimentation rate	-	OMIM:617718
10095	ARPC1B	HP:0200029	Vasculitis in the skin	1/3	OMIM:617718
10095	ARPC1B	HP:0100658	Cellulitis	1/3	OMIM:617718
10095	ARPC1B	HP:0025085	Bloody diarrhea	1/3	OMIM:617718
10095	ARPC1B	HP:0005537	Decreased mean platelet volume	-	OMIM:617718
10095	ARPC1B	HP:0031813	Colonic eosinophilia	1/3	OMIM:617718
10095	ARPC1B	HP:0000988	Skin rash	3/3	OMIM:617718
10095	ARPC1B	HP:0001508	Failure to thrive	-	OMIM:617718
10095	ARPC1B	HP:0006532	Recurrent pneumonia	1/3	OMIM:617718
10095	ARPC1B	HP:0000498	Blepharitis	1/3	OMIM:617718
10095	ARPC1B	HP:0011227	Elevated circulating C-reactive protein concentration	1/3	OMIM:617718
10095	ARPC1B	HP:0001873	Thrombocytopenia	1/3	OMIM:617718
10102	TSFM	HP:0001138	Optic neuropathy	-	OMIM:610505
10102	TSFM	HP:0001298	Encephalopathy	1/2	OMIM:610505
10102	TSFM	HP:0001290	Generalized hypotonia	-	OMIM:610505
10102	TSFM	HP:0001250	Seizure	-	OMIM:610505
10102	TSFM	HP:0001252	Hypotonia	2/2	OMIM:610505
10102	TSFM	HP:0001251	Ataxia	-	OMIM:610505
10102	TSFM	HP:0001263	Global developmental delay	-	OMIM:610505
10102	TSFM	HP:0003819	Death in childhood	-	OMIM:610505
10102	TSFM	HP:0008872	Feeding difficulties in infancy	-	OMIM:610505
10102	TSFM	HP:0001332	Dystonia	-	OMIM:610505
10102	TSFM	HP:0001324	Muscle weakness	-	OMIM:610505
10102	TSFM	HP:0000007	Autosomal recessive inheritance	-	OMIM:610505
10102	TSFM	HP:0001337	Tremor	-	OMIM:610505
10102	TSFM	HP:0001319	Neonatal hypotonia	2/2	OMIM:610505
10102	TSFM	HP:0002033	Poor suck	1/2	OMIM:610505
10102	TSFM	HP:0100543	Cognitive impairment	-	OMIM:610505
10102	TSFM	HP:0002094	Dyspnea	1/2	OMIM:610505
10102	TSFM	HP:0002093	Respiratory insufficiency	-	OMIM:610505
10102	TSFM	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:610505
10102	TSFM	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:610505
10102	TSFM	HP:0002119	Ventriculomegaly	1/2	OMIM:610505
10102	TSFM	HP:0011924	Decreased activity of mitochondrial complex III	2/2	OMIM:610505
10102	TSFM	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:610505
10102	TSFM	HP:0002240	Hepatomegaly	-	OMIM:610505
10102	TSFM	HP:0008347	Decreased activity of mitochondrial complex IV	2/2	OMIM:610505
10102	TSFM	HP:0003623	Neonatal onset	2/2	OMIM:610505
10102	TSFM	HP:0004900	Severe lactic acidosis	2/2	OMIM:610505
10102	TSFM	HP:0000648	Optic atrophy	-	OMIM:610505
10102	TSFM	HP:0001987	Hyperammonemia	1/2	OMIM:610505
10102	TSFM	HP:0000741	Apathy	1/2	OMIM:610505
10102	TSFM	HP:0003128	Lactic acidosis	-	OMIM:610505
10102	TSFM	HP:0003236	Elevated circulating creatine kinase concentration	1/2	OMIM:610505
10102	TSFM	HP:0003201	Rhabdomyolysis	1/2	OMIM:610505
10102	TSFM	HP:0032653	Elevated lactate:pyruvate ratio	1/2	OMIM:610505
10102	TSFM	HP:0002878	Respiratory failure	1/2	OMIM:610505
10102	TSFM	HP:0001558	Decreased fetal movement	1/2	OMIM:610505
10102	TSFM	HP:0001522	Death in infancy	2/2	OMIM:610505
10102	TSFM	HP:0001511	Intrauterine growth retardation	-	OMIM:610505
10102	TSFM	HP:0002902	Hyponatremia	1/2	OMIM:610505
10102	TSFM	HP:0005157	Concentric hypertrophic cardiomyopathy	1/2	OMIM:610505
10102	TSFM	HP:0001643	Patent ductus arteriosus	1/2	OMIM:610505
10102	TSFM	HP:0001644	Dilated cardiomyopathy	HP:0040283	OMIM:610505
10102	TSFM	HP:0001655	Patent foramen ovale	1/2	OMIM:610505
10102	TSFM	HP:0000505	Visual impairment	-	OMIM:610505
10108	-	HP:0001159	Syndactyly	HP:0040283	OMIM:176270
10108	-	HP:0007328	Impaired pain sensation	HP:0040282	OMIM:176270
10108	-	HP:0003745	Sporadic	-	OMIM:176270
10108	-	HP:0001290	Generalized hypotonia	HP:0040281	OMIM:176270
10108	-	HP:0001270	Motor delay	HP:0040281	OMIM:176270
10108	-	HP:0001250	Seizure	31/154	OMIM:176270
10108	-	HP:0001249	Intellectual disability	12/12	OMIM:176270
10108	-	HP:0002591	Polyphagia	105/165	OMIM:176270
10108	-	HP:0001263	Global developmental delay	HP:0040281	OMIM:176270
10108	-	HP:0001262	Excessive daytime somnolence	8/12	OMIM:176270
10108	-	HP:0000064	Hypoplastic labia minora	HP:0040282	OMIM:176270
10108	-	HP:0000060	Clitoral hypoplasia	HP:0040282	OMIM:176270
10108	-	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	OMIM:176270
10108	-	HP:0000046	Small scrotum	-	OMIM:176270
10108	-	HP:0000054	Micropenis	HP:0040282	OMIM:176270
10108	-	HP:0001385	Hip dysplasia	27/90	OMIM:176270
10108	-	HP:0000028	Cryptorchidism	118/130	OMIM:176270
10108	-	HP:0008872	Feeding difficulties in infancy	HP:0040281	OMIM:176270
10108	-	HP:0007513	Generalized hypopigmentation	-	OMIM:176270
10108	-	HP:0001328	Specific learning disability	HP:0040281	OMIM:176270
10108	-	HP:0000006	Autosomal dominant inheritance	-	OMIM:176270
10108	-	HP:0002650	Scoliosis	150/180	OMIM:176270
10108	-	HP:0001319	Neonatal hypotonia	244/244	OMIM:176270
10108	-	HP:0002791	Hypoventilation	-	OMIM:176270
10108	-	HP:0002714	Downturned corners of mouth	HP:0040282	OMIM:176270
10108	-	HP:0002033	Poor suck	HP:0040281	OMIM:176270
10108	-	HP:0005968	Temperature instability	HP:0040283	OMIM:176270
10108	-	HP:0005978	Type II diabetes mellitus	12/82	OMIM:176270
10108	-	HP:0030919	Low 5-minute APGAR score	14/244	OMIM:176270
10108	-	HP:0030918	Low 1-minute APGAR score	55/244	OMIM:176270
10108	-	HP:0009466	Radial deviation of finger	HP:0040283	OMIM:176270
10108	-	HP:0002155	Hypertriglyceridemia	10/66	OMIM:176270
10108	-	HP:0002119	Ventriculomegaly	HP:0040282	OMIM:176270
10108	-	HP:0010535	Sleep apnea	HP:0040282	OMIM:176270
10108	-	HP:0003577	Congenital onset	98/244	OMIM:176270
10108	-	HP:0002236	Frontal upsweep of hair	HP:0040283	OMIM:176270
10108	-	HP:0100716	Self-injurious behavior	50/62	OMIM:176270
10108	-	HP:0002205	Recurrent respiratory infections	HP:0040282	OMIM:176270
10108	-	HP:0007010	Poor fine motor coordination	HP:0040283	OMIM:176270
10108	-	HP:0007015	Poor gross motor coordination	-	OMIM:176270
10108	-	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	OMIM:176270
10108	-	HP:0002360	Sleep abnormality	HP:0040282	OMIM:176270
10108	-	HP:0200055	Small hand	-	OMIM:176270
10108	-	HP:0033454	Tube feeding	216/244	OMIM:176270
10108	-	HP:0031878	Acromicria	-	OMIM:176270
10108	-	HP:0004283	Narrow palm	HP:0040281	OMIM:176270
10108	-	HP:0004279	Short palm	HP:0040281	OMIM:176270
10108	-	HP:0000670	Carious teeth	HP:0040283	OMIM:176270
10108	-	HP:0004322	Short stature	HP:0040281	OMIM:176270
10108	-	HP:0012743	Abdominal obesity	-	OMIM:176270
10108	-	HP:0000750	Delayed speech and language development	HP:0040281	OMIM:176270
10108	-	HP:0000717	Autism	210/786	OMIM:176270
10108	-	HP:0000709	Psychosis	18/92	OMIM:176270
10108	-	HP:0000708	Atypical behavior	HP:0040282	OMIM:176270
10108	-	HP:0011461	Fetal onset	146/244	OMIM:176270
10108	-	HP:0000789	Infertility	HP:0040281	OMIM:176270
10108	-	HP:0000786	Primary amenorrhea	1/7	OMIM:176270
10108	-	HP:0003124	Hypercholesterolemia	42/66	OMIM:176270
10108	-	HP:0003199	Decreased muscle mass	HP:0040282	OMIM:176270
10108	-	HP:0000876	Oligomenorrhea	HP:0040282	OMIM:176270
10108	-	HP:0000846	Adrenal insufficiency	1/82	OMIM:176270
10108	-	HP:0000842	Hyperinsulinemia	-	OMIM:176270
10108	-	HP:0000826	Precocious puberty	-	OMIM:176270
10108	-	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040281	OMIM:176270
10108	-	HP:0000823	Delayed puberty	HP:0040282	OMIM:176270
10108	-	HP:0003233	Decreased HDL cholesterol concentration	23/66	OMIM:176270
10108	-	HP:0003241	External genital hypoplasia	HP:0040281	OMIM:176270
10108	-	HP:0000992	Cutaneous photosensitivity	HP:0040282	OMIM:176270
10108	-	HP:0000969	Edema	9/12	OMIM:176270
10108	-	HP:0000939	Osteoporosis	2/12	OMIM:176270
10108	-	HP:0000938	Osteopenia	HP:0040283	OMIM:176270
10108	-	HP:0000268	Dolichocephaly	-	OMIM:176270
10108	-	HP:0030084	Clinodactyly	-	OMIM:176270
10108	-	HP:0002808	Kyphosis	HP:0040282	OMIM:176270
10108	-	HP:0000219	Thin upper lip vermilion	15/20	OMIM:176270
10108	-	HP:0001562	Oligohydramnios	16/244	OMIM:176270
10108	-	HP:0001561	Polyhydramnios	57/244	OMIM:176270
10108	-	HP:0001558	Decreased fetal movement	146/244	OMIM:176270
10108	-	HP:0025501	Class III obesity	90/165	OMIM:176270
10108	-	HP:0001531	Failure to thrive in infancy	HP:0040281	OMIM:176270
10108	-	HP:0002857	Genu valgum	-	OMIM:176270
10108	-	HP:0001511	Intrauterine growth retardation	50/244	OMIM:176270
10108	-	HP:0001513	Obesity	85/180	OMIM:176270
10108	-	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	OMIM:176270
10108	-	HP:0001611	Hypernasal speech	HP:0040282	OMIM:176270
10108	-	HP:0000341	Narrow forehead	HP:0040282	OMIM:176270
10108	-	HP:0001623	Breech presentation	70/244	OMIM:176270
10108	-	HP:0000486	Strabismus	-	OMIM:176270
10108	-	HP:0012450	Chronic constipation	5/12	OMIM:176270
10108	-	HP:0001773	Short foot	HP:0040281	OMIM:176270
10108	-	HP:0000446	Narrow nasal bridge	HP:0040282	OMIM:176270
10108	-	HP:0000582	Upslanted palpebral fissure	HP:0040283	OMIM:176270
10108	-	HP:0000565	Esotropia	HP:0040283	OMIM:176270
10108	-	HP:0000540	Hypermetropia	-	OMIM:176270
10108	-	HP:0000545	Myopia	HP:0040283	OMIM:176270
10111	RAD50	HP:0001251	Ataxia	1/1	OMIM:613078
10111	RAD50	HP:0001249	Intellectual disability	1/1	OMIM:613078
10111	RAD50	HP:0001257	Spasticity	1/1	OMIM:613078
10111	RAD50	HP:0010997	Chromosomal breakage induced by ionizing radiation	1/1	OMIM:613078
10111	RAD50	HP:0000007	Autosomal recessive inheritance	-	OMIM:613078
10111	RAD50	HP:0012125	Prostate cancer	HP:0040283	ORPHA:145
10111	RAD50	HP:0100615	Ovarian neoplasm	HP:0040281	ORPHA:145
10111	RAD50	HP:0004322	Short stature	1/1	OMIM:613078
10111	RAD50	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:145
10111	RAD50	HP:0004313	Decreased circulating immunoglobulin concentration	0/1	OMIM:613078
10111	RAD50	HP:0000252	Microcephaly	1/1	OMIM:613078
10111	RAD50	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:145
10111	RAD50	HP:0002861	Melanoma	HP:0040283	ORPHA:145
10111	RAD50	HP:0001510	Growth delay	1/1	OMIM:613078
10111	RAD50	HP:0011027	Abnormal fallopian tube morphology	HP:0040281	ORPHA:145
10111	RAD50	HP:0000320	Bird-like facies	1/1	OMIM:613078
10111	RAD50	HP:0030406	Primary peritoneal carcinoma	HP:0040281	ORPHA:145
10111	RAD50	HP:0000540	Hypermetropia	1/1	OMIM:613078
10112	KIF20A	HP:0001297	Stroke	HP:0040284	ORPHA:75249
10112	KIF20A	HP:0001279	Syncope	HP:0040284	ORPHA:75249
10112	KIF20A	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:75249
10112	KIF20A	HP:0000007	Autosomal recessive inheritance	-	OMIM:619433
10112	KIF20A	HP:0031295	Left atrial enlargement	HP:0040282	ORPHA:75249
10112	KIF20A	HP:0002094	Dyspnea	HP:0040283	ORPHA:75249
10112	KIF20A	HP:0030950	Pulmonary venous hypertension	HP:0040282	ORPHA:75249
10112	KIF20A	HP:0010444	Pulmonic regurgitation	1/2	OMIM:619433
10112	KIF20A	HP:0100598	Pulmonary edema	HP:0040283	ORPHA:75249
10112	KIF20A	HP:0034548	Portal vein hypoplasia	1/2	OMIM:619433
10112	KIF20A	HP:0002240	Hepatomegaly	1/2	OMIM:619433
10112	KIF20A	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:75249
10112	KIF20A	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:75249
10112	KIF20A	HP:0001907	Thromboembolism	HP:0040284	ORPHA:75249
10112	KIF20A	HP:0011461	Fetal onset	2/2	OMIM:619433
10112	KIF20A	HP:0012764	Orthopnea	HP:0040283	ORPHA:75249
10112	KIF20A	HP:0030718	Right atrial enlargement	HP:0040282	ORPHA:75249
10112	KIF20A	HP:4000148	Hepatic artery hyperplasia	1/2	OMIM:619433
10112	KIF20A	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:75249
10112	KIF20A	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:75249
10112	KIF20A	HP:0031329	Interstitial cardiac fibrosis	HP:0040282	ORPHA:75249
10112	KIF20A	HP:0001522	Death in infancy	2/2	OMIM:619433
10112	KIF20A	HP:0001541	Ascites	1/2	OMIM:619433
10112	KIF20A	HP:0012398	Peripheral edema	HP:0040283	ORPHA:75249
10112	KIF20A	HP:0005180	Tricuspid regurgitation	2/2	OMIM:619433
10112	KIF20A	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:75249
10112	KIF20A	HP:0005162	Abnormal left ventricular function	HP:0040281	ORPHA:75249
10112	KIF20A	HP:0001642	Pulmonic stenosis	1/2	OMIM:619433
10112	KIF20A	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:75249
10112	KIF20A	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:75249
10112	KIF20A	HP:0001723	Restrictive cardiomyopathy	2/2	OMIM:619433
10112	KIF20A	HP:0001789	Hydrops fetalis	1/2	OMIM:619433
10117	ENAM	HP:0000007	Autosomal recessive inheritance	-	OMIM:204650
10117	ENAM	HP:0000006	Autosomal dominant inheritance	-	OMIM:104500
10117	ENAM	HP:0006285	Enamel hypomineralization	3/3	OMIM:204650
10117	ENAM	HP:0006286	Yellow-brown discoloration of the teeth	-	OMIM:204650
10117	ENAM	HP:0000679	Taurodontia	0/3	OMIM:204650
10117	ENAM	HP:0009102	Anterior open-bite malocclusion	-	OMIM:204650
10117	ENAM	HP:0000705	Amelogenesis imperfecta	3/3	OMIM:204650
10117	ENAM	HP:0000705	Amelogenesis imperfecta	-	OMIM:104500
10125	RASGRP1	HP:0032218	Decreased proportion of CD4-positive T cells	2/2	OMIM:618534
10125	RASGRP1	HP:0025289	Cervical lymphadenopathy	2/2	OMIM:618534
10125	RASGRP1	HP:0025379	Anti-thyroid peroxidase antibody positivity	1/2	OMIM:618534
10125	RASGRP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618534
10125	RASGRP1	HP:0012191	B-cell lymphoma	2/2	OMIM:618534
10125	RASGRP1	HP:0002783	Recurrent lower respiratory tract infections	1/1	OMIM:618534
10125	RASGRP1	HP:0001433	Hepatosplenomegaly	2/2	OMIM:618534
10125	RASGRP1	HP:0002719	Recurrent infections	2/2	OMIM:618534
10125	RASGRP1	HP:0002716	Lymphadenopathy	1/1	OMIM:618534
10125	RASGRP1	HP:0002110	Bronchiectasis	1/1	OMIM:618534
10125	RASGRP1	HP:0003496	Increased circulating IgM level	2/2	OMIM:618534
10125	RASGRP1	HP:0003493	Antinuclear antibody positivity	2/2	OMIM:618534
10125	RASGRP1	HP:0033207	Increased CD21low B cell proportion	2/2	OMIM:618534
10125	RASGRP1	HP:0100721	Mediastinal lymphadenopathy	2/2	OMIM:618534
10125	RASGRP1	HP:0100759	Clubbing of fingers	1/1	OMIM:618534
10125	RASGRP1	HP:0032069	Anti-thyroglobulin antibody positivity	1/2	OMIM:618534
10125	RASGRP1	HP:0001973	Autoimmune thrombocytopenia	1/2	OMIM:618534
10125	RASGRP1	HP:0004315	Decreased circulating IgG concentration	1/1	OMIM:618534
10125	RASGRP1	HP:0003237	Increased circulating IgG concentration	2/2	OMIM:618534
10125	RASGRP1	HP:0003261	Increased circulating IgA concentration	2/2	OMIM:618534
10125	RASGRP1	HP:0031394	Abnormal CD4:CD8 ratio	1/1	OMIM:618534
10125	RASGRP1	HP:0001508	Failure to thrive	1/1	OMIM:618534
10125	RASGRP1	HP:0031379	Abnormal T cell proliferation	1/1	OMIM:618534
10125	RASGRP1	HP:0031381	Decreased mitogen-induced T-cell proliferation	1/1	OMIM:618534
10125	RASGRP1	HP:0001744	Splenomegaly	1/1	OMIM:618534
10125	RASGRP1	HP:0001890	Autoimmune hemolytic anemia	2/2	OMIM:618534
10126	DNAL4	HP:0002492	Abnormal corticospinal tract morphology	HP:0040282	ORPHA:238722
10126	DNAL4	HP:0025101	Dysgenesis of the hippocampus	HP:0040283	ORPHA:238722
10126	DNAL4	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:238722
10126	DNAL4	HP:0001256	Intellectual disability, mild	HP:0040284	ORPHA:238722
10126	DNAL4	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:238722
10126	DNAL4	HP:0001328	Specific learning disability	HP:0040283	ORPHA:238722
10126	DNAL4	HP:0000007	Autosomal recessive inheritance	-	OMIM:616059
10126	DNAL4	HP:0001335	Bimanual synkinesia	HP:0040282	ORPHA:238722
10126	DNAL4	HP:0001335	Bimanual synkinesia	-	OMIM:616059
10126	DNAL4	HP:0003326	Myalgia	HP:0040283	ORPHA:238722
10126	DNAL4	HP:0003388	Easy fatigability	HP:0040282	ORPHA:238722
10126	DNAL4	HP:0007010	Poor fine motor coordination	HP:0040282	ORPHA:238722
10126	DNAL4	HP:0002312	Clumsiness	HP:0040282	ORPHA:238722
10126	DNAL4	HP:0100021	Cerebral palsy	HP:0040284	ORPHA:238722
10126	DNAL4	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:238722
10126	DNAL4	HP:0002949	Fused cervical vertebrae	HP:0040284	ORPHA:238722
10126	DNAL4	HP:0001696	Situs inversus totalis	0/3	OMIM:616059
10128	LRPPRC	HP:0025116	Fetal distress	3/10	OMIM:220111
10128	LRPPRC	HP:0002490	Increased CSF lactate	3/3	OMIM:220111
10128	LRPPRC	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:70472
10128	LRPPRC	HP:0002465	Poor speech	HP:0040282	ORPHA:70472
10128	LRPPRC	HP:0007325	Generalized dystonia	HP:0040283	ORPHA:70472
10128	LRPPRC	HP:0007305	CNS demyelination	-	OMIM:220111
10128	LRPPRC	HP:0010883	Aortic valve atresia	1/10	OMIM:220111
10128	LRPPRC	HP:0009879	Simplified gyral pattern	1/6	OMIM:220111
10128	LRPPRC	HP:0002401	Stroke-like episode	HP:0040281	ORPHA:70472
10128	LRPPRC	HP:0001298	Encephalopathy	1/10	OMIM:220111
10128	LRPPRC	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:70472
10128	LRPPRC	HP:0001250	Seizure	HP:0040283	OMIM:220111
10128	LRPPRC	HP:0001250	Seizure	HP:0040282	ORPHA:70472
10128	LRPPRC	HP:0001252	Hypotonia	5/10	OMIM:220111
10128	LRPPRC	HP:0001252	Hypotonia	HP:0040281	ORPHA:70472
10128	LRPPRC	HP:0001251	Ataxia	-	OMIM:220111
10128	LRPPRC	HP:0001251	Ataxia	HP:0040282	ORPHA:70472
10128	LRPPRC	HP:0001263	Global developmental delay	10/10	OMIM:220111
10128	LRPPRC	HP:0001263	Global developmental delay	HP:0040281	ORPHA:70472
10128	LRPPRC	HP:0001257	Spasticity	1/10	OMIM:220111
10128	LRPPRC	HP:0001257	Spasticity	HP:0040282	ORPHA:70472
10128	LRPPRC	HP:0002540	Inability to walk	HP:0040282	ORPHA:70472
10128	LRPPRC	HP:0002553	Highly arched eyebrow	-	OMIM:220111
10128	LRPPRC	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:70472
10128	LRPPRC	HP:0000047	Hypospadias	2/10	OMIM:220111
10128	LRPPRC	HP:0000023	Inguinal hernia	1/10	OMIM:220111
10128	LRPPRC	HP:0001332	Dystonia	1/10	OMIM:220111
10128	LRPPRC	HP:0001324	Muscle weakness	HP:0040282	ORPHA:70472
10128	LRPPRC	HP:0001338	Partial agenesis of the corpus callosum	1/6	OMIM:220111
10128	LRPPRC	HP:0000007	Autosomal recessive inheritance	-	OMIM:220111
10128	LRPPRC	HP:0001337	Tremor	-	OMIM:220111
10128	LRPPRC	HP:0001310	Dysmetria	1/10	OMIM:220111
10128	LRPPRC	HP:0001320	Cerebellar vermis hypoplasia	1/6	OMIM:220111
10128	LRPPRC	HP:0002789	Tachypnea	-	OMIM:220111
10128	LRPPRC	HP:0001410	Decreased liver function	HP:0040282	ORPHA:70472
10128	LRPPRC	HP:0001414	Microvesicular hepatic steatosis	-	OMIM:220111
10128	LRPPRC	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:70472
10128	LRPPRC	HP:0002015	Dysphagia	2/10	OMIM:220111
10128	LRPPRC	HP:0002015	Dysphagia	HP:0040283	ORPHA:70472
10128	LRPPRC	HP:0002013	Vomiting	1/10	OMIM:220111
10128	LRPPRC	HP:0011800	Midface retrusion	-	OMIM:220111
10128	LRPPRC	HP:0002060	Abnormal cerebral morphology	HP:0040283	ORPHA:70472
10128	LRPPRC	HP:0002078	Truncal ataxia	1/10	OMIM:220111
10128	LRPPRC	HP:0002072	Chorea	HP:0040282	ORPHA:70472
10128	LRPPRC	HP:0100598	Pulmonary edema	1/10	OMIM:220111
10128	LRPPRC	HP:0002151	Increased circulating lactate concentration	10/10	OMIM:220111
10128	LRPPRC	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:70472
10128	LRPPRC	HP:0002197	Generalized-onset seizure	1/10	OMIM:220111
10128	LRPPRC	HP:0002171	Gliosis	-	OMIM:220111
10128	LRPPRC	HP:0010536	Central sleep apnea	HP:0040283	ORPHA:70472
10128	LRPPRC	HP:0003593	Infantile onset	1/10	OMIM:220111
10128	LRPPRC	HP:0003577	Congenital onset	3/10	OMIM:220111
10128	LRPPRC	HP:0004898	Persistent lactic acidosis	1/10	OMIM:220111
10128	LRPPRC	HP:0008347	Decreased activity of mitochondrial complex IV	10/10	OMIM:220111
10128	LRPPRC	HP:0008347	Decreased activity of mitochondrial complex IV	HP:0040281	ORPHA:70472
10128	LRPPRC	HP:0011968	Feeding difficulties	7/10	OMIM:220111
10128	LRPPRC	HP:0033379	Bilateral superior vena cava	1/10	OMIM:220111
10128	LRPPRC	HP:0020045	Esodeviation	1/10	OMIM:220111
10128	LRPPRC	HP:0003688	Cytochrome C oxidase-negative muscle fibers	HP:0040282	ORPHA:70472
10128	LRPPRC	HP:0002376	Developmental regression	HP:0040282	ORPHA:70472
10128	LRPPRC	HP:0002344	Progressive neurologic deterioration	HP:0040282	ORPHA:70472
10128	LRPPRC	HP:0001007	Hirsutism	2/10	OMIM:220111
10128	LRPPRC	HP:0003645	Prolonged partial thromboplastin time	1/10	OMIM:220111
10128	LRPPRC	HP:0010841	Multifocal epileptiform discharges	HP:0040282	ORPHA:70472
10128	LRPPRC	HP:0100660	Dyskinesia	HP:0040283	ORPHA:70472
10128	LRPPRC	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:70472
10128	LRPPRC	HP:0003623	Neonatal onset	6/10	OMIM:220111
10128	LRPPRC	HP:0002310	Orofacial dyskinesia	HP:0040283	ORPHA:70472
10128	LRPPRC	HP:0007183	Focal T2 hyperintense basal ganglia lesion	HP:0040282	ORPHA:70472
10128	LRPPRC	HP:0004900	Severe lactic acidosis	1/10	OMIM:220111
10128	LRPPRC	HP:0005599	Hypopigmentation of hair	HP:0040283	ORPHA:70472
10128	LRPPRC	HP:0000639	Nystagmus	1/10	OMIM:220111
10128	LRPPRC	HP:0001943	Hypoglycemia	3/10	OMIM:220111
10128	LRPPRC	HP:0001946	Ketosis	1/10	OMIM:220111
10128	LRPPRC	HP:0001942	Metabolic acidosis	HP:0040281	ORPHA:70472
10128	LRPPRC	HP:0001987	Hyperammonemia	1/10	OMIM:220111
10128	LRPPRC	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:70472
10128	LRPPRC	HP:0003074	Hyperglycemia	-	OMIM:220111
10128	LRPPRC	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:70472
10128	LRPPRC	HP:0000750	Delayed speech and language development	-	OMIM:220111
10128	LRPPRC	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:70472
10128	LRPPRC	HP:0003128	Lactic acidosis	10/10	OMIM:220111
10128	LRPPRC	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:70472
10128	LRPPRC	HP:0000822	Hypertension	1/10	OMIM:220111
10128	LRPPRC	HP:0011560	Mitral atresia	1/10	OMIM:220111
10128	LRPPRC	HP:0033044	Motor regression	1/10	OMIM:220111
10128	LRPPRC	HP:0000294	Low anterior hairline	-	OMIM:220111
10128	LRPPRC	HP:0000272	Malar flattening	-	OMIM:220111
10128	LRPPRC	HP:0012243	Abnormal reproductive system morphology	HP:0040283	ORPHA:70472
10128	LRPPRC	HP:0000252	Microcephaly	1/10	OMIM:220111
10128	LRPPRC	HP:0000248	Brachycephaly	HP:0040283	ORPHA:70472
10128	LRPPRC	HP:0002878	Respiratory failure	HP:0040283	ORPHA:70472
10128	LRPPRC	HP:0001545	Anteriorly placed anus	1/10	OMIM:220111
10128	LRPPRC	HP:0001522	Death in infancy	3/10	OMIM:220111
10128	LRPPRC	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:70472
10128	LRPPRC	HP:0001508	Failure to thrive	-	OMIM:220111
10128	LRPPRC	HP:0001508	Failure to thrive	HP:0040281	ORPHA:70472
10128	LRPPRC	HP:0001518	Small for gestational age	1/10	OMIM:220111
10128	LRPPRC	HP:0011096	Peripheral demyelination	-	OMIM:220111
10128	LRPPRC	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:70472
10128	LRPPRC	HP:0006565	Increased hepatocellular lipid droplets	-	OMIM:220111
10128	LRPPRC	HP:0002919	Ketonuria	1/10	OMIM:220111
10128	LRPPRC	HP:0000369	Low-set ears	1/10	OMIM:220111
10128	LRPPRC	HP:0001680	Coarctation of aorta	1/10	OMIM:220111
10128	LRPPRC	HP:0000347	Micrognathia	2/10	OMIM:220111
10128	LRPPRC	HP:0001647	Bicuspid aortic valve	1/10	OMIM:220111
10128	LRPPRC	HP:0000316	Hypertelorism	-	OMIM:220111
10128	LRPPRC	HP:0001653	Mitral regurgitation	1/10	OMIM:220111
10128	LRPPRC	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:70472
10128	LRPPRC	HP:0001639	Hypertrophic cardiomyopathy	1/10	OMIM:220111
10128	LRPPRC	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:70472
10128	LRPPRC	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:70472
10128	LRPPRC	HP:0001712	Left ventricular hypertrophy	1/10	OMIM:220111
10128	LRPPRC	HP:0000486	Strabismus	-	OMIM:220111
10128	LRPPRC	HP:0000463	Anteverted nares	-	OMIM:220111
10128	LRPPRC	HP:0000474	Thickened nuchal skin fold	2/10	OMIM:220111
10128	LRPPRC	HP:0000431	Wide nasal bridge	2/10	OMIM:220111
10128	LRPPRC	HP:0011220	Prominent forehead	1/10	OMIM:220111
10128	LRPPRC	HP:0011203	EEG with abnormally slow frequencies	HP:0040282	ORPHA:70472
10128	LRPPRC	HP:0000565	Esotropia	1/10	OMIM:220111
10133	OPTN	HP:0002463	Language impairment	HP:0040283	ORPHA:803
10133	OPTN	HP:0001260	Dysarthria	5/8	OMIM:613435
10133	OPTN	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
10133	OPTN	HP:0001257	Spasticity	HP:0040282	ORPHA:803
10133	OPTN	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
10133	OPTN	HP:0007354	Amyotrophic lateral sclerosis	8/8	OMIM:613435
10133	OPTN	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
10133	OPTN	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
10133	OPTN	HP:0002505	Loss of ambulation	2/8	OMIM:613435
10133	OPTN	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
10133	OPTN	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
10133	OPTN	HP:0001324	Muscle weakness	8/8	OMIM:613435
10133	OPTN	HP:0000007	Autosomal recessive inheritance	-	OMIM:613435
10133	OPTN	HP:0000006	Autosomal dominant inheritance	-	OMIM:613435
10133	OPTN	HP:0000006	Autosomal dominant inheritance	-	OMIM:137760
10133	OPTN	HP:0001308	Tongue fasciculations	4/8	OMIM:613435
10133	OPTN	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
10133	OPTN	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
10133	OPTN	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
10133	OPTN	HP:0012108	Open angle glaucoma	-	OMIM:137760
10133	OPTN	HP:0002015	Dysphagia	4/8	OMIM:613435
10133	OPTN	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
10133	OPTN	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
10133	OPTN	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
10133	OPTN	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
10133	OPTN	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
10133	OPTN	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
10133	OPTN	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
10133	OPTN	HP:0003470	Paralysis	HP:0040282	ORPHA:803
10133	OPTN	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
10133	OPTN	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
10133	OPTN	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
10133	OPTN	HP:0003596	Middle age onset	5/8	OMIM:613435
10133	OPTN	HP:0003584	Late onset	1/8	OMIM:613435
10133	OPTN	HP:0002380	Fasciculations	1/8	OMIM:613435
10133	OPTN	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
10133	OPTN	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
10133	OPTN	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
10133	OPTN	HP:0003676	Progressive	-	OMIM:613435
10133	OPTN	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
10133	OPTN	HP:0002307	Drooling	HP:0040282	ORPHA:803
10133	OPTN	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
10133	OPTN	HP:0004326	Cachexia	HP:0040283	ORPHA:803
10133	OPTN	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
10133	OPTN	HP:0000739	Anxiety	HP:0040282	ORPHA:803
10133	OPTN	HP:0000716	Depression	HP:0040282	ORPHA:803
10133	OPTN	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
10133	OPTN	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
10133	OPTN	HP:0011462	Young adult onset	2/8	OMIM:613435
10133	OPTN	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
10133	OPTN	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
10133	OPTN	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
10133	OPTN	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
10133	OPTN	HP:0002878	Respiratory failure	3/8	OMIM:613435
10133	OPTN	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
10133	OPTN	HP:0030007	EMG: positive sharp waves	1/1	OMIM:613435
10133	OPTN	HP:0012378	Fatigue	HP:0040282	ORPHA:803
10133	OPTN	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
10133	OPTN	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
10133	OPTN	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
10133	OPTN	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
10133	OPTN	HP:0012473	Tongue atrophy	2/8	OMIM:613435
10133	OPTN	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
10133	OPTN	HP:0001824	Weight loss	HP:0040282	ORPHA:803
10133	OPTN	HP:0012531	Pain	HP:0040282	ORPHA:803
10133	OPTN	HP:0000545	Myopia	-	OMIM:137760
10134	BCAP31	HP:0002445	Tetraplegia	5/6	OMIM:300475
10134	BCAP31	HP:0002445	Tetraplegia	HP:0040282	ORPHA:369939
10134	BCAP31	HP:0007256	Abnormal pyramidal sign	6/6	OMIM:300475
10134	BCAP31	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:369939
10134	BCAP31	HP:0010864	Intellectual disability, severe	7/7	OMIM:300475
10134	BCAP31	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:369942
10134	BCAP31	HP:0001272	Cerebellar atrophy	1/3	OMIM:300475
10134	BCAP31	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:369939
10134	BCAP31	HP:0001250	Seizure	HP:0040282	ORPHA:369942
10134	BCAP31	HP:0001250	Seizure	3/6	OMIM:300475
10134	BCAP31	HP:0001263	Global developmental delay	HP:0040281	ORPHA:369942
10134	BCAP31	HP:0001263	Global developmental delay	7/7	OMIM:300475
10134	BCAP31	HP:0007371	Corpus callosum atrophy	HP:0040283	ORPHA:369939
10134	BCAP31	HP:0033643	Increased circulating very long-chain fatty acid concentration	HP:0040282	ORPHA:369942
10134	BCAP31	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:369942
10134	BCAP31	HP:0001396	Cholestasis	HP:0040281	ORPHA:369942
10134	BCAP31	HP:0001332	Dystonia	HP:0040283	ORPHA:369942
10134	BCAP31	HP:0001332	Dystonia	6/6	OMIM:300475
10134	BCAP31	HP:0001419	X-linked recessive inheritance	-	OMIM:300475
10134	BCAP31	HP:0002059	Cerebral atrophy	1/3	OMIM:300475
10134	BCAP31	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:369939
10134	BCAP31	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:369942
10134	BCAP31	HP:0003429	CNS hypomyelination	HP:0040283	ORPHA:369939
10134	BCAP31	HP:0003593	Infantile onset	2/7	OMIM:300475
10134	BCAP31	HP:0003577	Congenital onset	5/7	OMIM:300475
10134	BCAP31	HP:0006808	Cerebral hypomyelination	3/3	OMIM:300475
10134	BCAP31	HP:0006808	Cerebral hypomyelination	HP:0040282	ORPHA:369939
10134	BCAP31	HP:0000648	Optic atrophy	2/6	OMIM:300475
10134	BCAP31	HP:0000648	Optic atrophy	HP:0040283	ORPHA:369939
10134	BCAP31	HP:0001954	Recurrent fever	HP:0040282	ORPHA:369939
10134	BCAP31	HP:0001999	Abnormal facial shape	-	OMIM:300475
10134	BCAP31	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:369939
10134	BCAP31	HP:0000752	Hyperactivity	HP:0040283	ORPHA:369939
10134	BCAP31	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:369939
10134	BCAP31	HP:0012762	Cerebral white matter atrophy	HP:0040283	ORPHA:369939
10134	BCAP31	HP:0003196	Short nose	HP:0040283	ORPHA:369942
10134	BCAP31	HP:0000835	Adrenal hypoplasia	HP:0040283	ORPHA:369942
10134	BCAP31	HP:0000252	Microcephaly	4/4	OMIM:300475
10134	BCAP31	HP:0000252	Microcephaly	HP:0040282	ORPHA:369939
10134	BCAP31	HP:0001508	Failure to thrive	7/7	OMIM:300475
10134	BCAP31	HP:0001508	Failure to thrive	HP:0040281	ORPHA:369939
10134	BCAP31	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:369942
10134	BCAP31	HP:0001511	Intrauterine growth retardation	3/7	OMIM:300475
10134	BCAP31	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:369939
10134	BCAP31	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:369942
10134	BCAP31	HP:0000365	Hearing impairment	HP:0040281	ORPHA:369939
10134	BCAP31	HP:0000347	Micrognathia	HP:0040283	ORPHA:369942
10134	BCAP31	HP:0030151	Cholangitis	HP:0040282	ORPHA:369942
10134	BCAP31	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:369942
10134	BCAP31	HP:0000407	Sensorineural hearing impairment	6/6	OMIM:300475
10134	BCAP31	HP:0000486	Strabismus	HP:0040283	ORPHA:369942
10134	BCAP31	HP:0000486	Strabismus	5/6	OMIM:300475
10134	BCAP31	HP:0000486	Strabismus	HP:0040282	ORPHA:369939
10134	BCAP31	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:369939
10134	BCAP31	HP:0012444	Brain atrophy	HP:0040283	ORPHA:369939
10134	BCAP31	HP:0000518	Cataract	HP:0040283	ORPHA:369942
10137	RBM12	HP:0007302	Bipolar affective disorder	4/26	OMIM:617629
10137	RBM12	HP:0003829	Typified by incomplete penetrance	-	OMIM:617629
10137	RBM12	HP:0000006	Autosomal dominant inheritance	-	OMIM:617629
10137	RBM12	HP:0100543	Cognitive impairment	4/26	OMIM:617629
10137	RBM12	HP:0003596	Middle age onset	1/15	OMIM:617629
10137	RBM12	HP:0100753	Schizophrenia	9/26	OMIM:617629
10137	RBM12	HP:0011462	Young adult onset	14/15	OMIM:617629
10142	AKAP9	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
10142	AKAP9	HP:0001279	Syncope	HP:0040282	ORPHA:101016
10142	AKAP9	HP:0001279	Syncope	HP:0040282	ORPHA:130
10142	AKAP9	HP:0001279	Syncope	1/1	OMIM:611820
10142	AKAP9	HP:0001250	Seizure	HP:0040283	ORPHA:101016
10142	AKAP9	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
10142	AKAP9	HP:0000006	Autosomal dominant inheritance	-	OMIM:611820
10142	AKAP9	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
10142	AKAP9	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
10142	AKAP9	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
10142	AKAP9	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
10142	AKAP9	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
10142	AKAP9	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
10142	AKAP9	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
10142	AKAP9	HP:0003621	Juvenile onset	1/1	OMIM:611820
10142	AKAP9	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
10142	AKAP9	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
10142	AKAP9	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
10142	AKAP9	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
10142	AKAP9	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
10142	AKAP9	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
10142	AKAP9	HP:0005184	Prolonged QTc interval	4/4	OMIM:611820
10142	AKAP9	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
10142	AKAP9	HP:0000365	Hearing impairment	-	ORPHA:101016
10142	AKAP9	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
10142	AKAP9	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
10142	AKAP9	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
10142	AKAP9	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
10142	AKAP9	HP:0001664	Torsade de pointes	1/46	OMIM:115000
10142	AKAP9	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
10142	AKAP9	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
10142	AKAP9	HP:0001645	Sudden cardiac death	-	OMIM:115000
10142	AKAP9	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
10142	AKAP9	HP:0001663	Ventricular fibrillation	-	OMIM:115000
10142	AKAP9	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
10142	AKAP9	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
10144	FAM13A	HP:0025175	Honeycomb lung	HP:0040282	ORPHA:2032
10144	FAM13A	HP:0025179	Ground-glass opacification	HP:0040282	ORPHA:2032
10144	FAM13A	HP:0032341	Reduced forced vital capacity	HP:0040282	ORPHA:2032
10144	FAM13A	HP:0025390	Reticular pattern on pulmonary HRCT	HP:0040282	ORPHA:2032
10144	FAM13A	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2032
10144	FAM13A	HP:0010444	Pulmonic regurgitation	HP:0040283	ORPHA:2032
10144	FAM13A	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:2032
10144	FAM13A	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:2032
10144	FAM13A	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:2032
10144	FAM13A	HP:0100759	Clubbing of fingers	HP:0040282	ORPHA:2032
10144	FAM13A	HP:0033367	Orthodeoxia	HP:0040283	ORPHA:2032
10144	FAM13A	HP:0001063	Acrocyanosis	HP:0040282	ORPHA:2032
10144	FAM13A	HP:0031950	Usual interstitial pneumonia	HP:0040282	ORPHA:2032
10144	FAM13A	HP:0012735	Cough	HP:0040282	ORPHA:2032
10144	FAM13A	HP:0045051	Decreased DLCO	HP:0040282	ORPHA:2032
10144	FAM13A	HP:0030830	Crackles	HP:0040282	ORPHA:2032
10144	FAM13A	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:2032
10144	FAM13A	HP:0012378	Fatigue	HP:0040282	ORPHA:2032
10144	FAM13A	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040281	ORPHA:2032
10144	FAM13A	HP:0031631	Subpleural honeycombing	HP:0040282	ORPHA:2032
10149	ADGRG2	HP:0000027	Azoospermia	-	OMIM:300985
10149	ADGRG2	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:48
10149	ADGRG2	HP:0001417	X-linked inheritance	-	OMIM:300985
10149	ADGRG2	HP:0011962	Obstructive azoospermia	HP:0040281	ORPHA:48
10149	ADGRG2	HP:0430121	Seminal vesicle agenesis	HP:0040282	ORPHA:48
10149	ADGRG2	HP:0011462	Young adult onset	-	OMIM:300985
10149	ADGRG2	HP:0000798	Oligozoospermia	HP:0040283	ORPHA:48
10149	ADGRG2	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:48
10149	ADGRG2	HP:0012873	Absent vas deferens	-	OMIM:300985
10149	ADGRG2	HP:0003251	Male infertility	-	OMIM:300985
10149	ADGRG2	HP:0003251	Male infertility	HP:0040281	ORPHA:48
10149	ADGRG2	HP:0012210	Abnormal renal morphology	HP:0040283	ORPHA:48
10155	TRIM28	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:654
10155	TRIM28	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:654
10155	TRIM28	HP:0000047	Hypospadias	HP:0040283	ORPHA:654
10155	TRIM28	HP:0033834	Malaise	HP:0040283	ORPHA:654
10155	TRIM28	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:654
10155	TRIM28	HP:0002664	Neoplasm	HP:0040281	ORPHA:654
10155	TRIM28	HP:0002667	Nephroblastoma	HP:0040281	ORPHA:654
10155	TRIM28	HP:0031105	Abnormal uterus morphology	HP:0040283	ORPHA:654
10155	TRIM28	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:654
10155	TRIM28	HP:0002027	Abdominal pain	HP:0040282	ORPHA:654
10155	TRIM28	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:654
10155	TRIM28	HP:0002094	Dyspnea	HP:0040284	ORPHA:654
10155	TRIM28	HP:0008330	Reduced von Willebrand factor activity	HP:0040283	ORPHA:654
10155	TRIM28	HP:0005580	Duplication of renal pelvis	HP:0040282	ORPHA:654
10155	TRIM28	HP:0001945	Fever	HP:0040283	ORPHA:654
10155	TRIM28	HP:0001903	Anemia	HP:0040283	ORPHA:654
10155	TRIM28	HP:0001901	Polycythemia	HP:0040283	ORPHA:654
10155	TRIM28	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:654
10155	TRIM28	HP:0012871	Varicocele	HP:0040283	ORPHA:654
10155	TRIM28	HP:0000822	Hypertension	HP:0040283	ORPHA:654
10155	TRIM28	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:654
10155	TRIM28	HP:0001528	Hemihypertrophy	HP:0040283	ORPHA:654
10155	TRIM28	HP:0031500	Abdominal mass	HP:0040281	ORPHA:654
10155	TRIM28	HP:0002907	Microscopic hematuria	HP:0040283	ORPHA:654
10155	TRIM28	HP:0000526	Aniridia	HP:0040283	ORPHA:654
10155	TRIM28	HP:0001824	Weight loss	HP:0040283	ORPHA:654
10155	TRIM28	HP:0012587	Macroscopic hematuria	HP:0040282	ORPHA:654
10157	AASS	HP:0500163	Hypoornithinemia	HP:0040282	ORPHA:2203
10157	AASS	HP:0500163	Hypoornithinemia	2/2	OMIM:238700
10157	AASS	HP:0500151	Hypercystinemia	HP:0040283	ORPHA:3124
10157	AASS	HP:0008589	Hypoplastic helices	HP:0040283	ORPHA:2203
10157	AASS	HP:0010850	EEG with spike-wave complexes	HP:0040282	ORPHA:2203
10157	AASS	HP:0001268	Mental deterioration	HP:0040283	ORPHA:3124
10157	AASS	HP:0001285	Spastic tetraparesis	HP:0040283	ORPHA:2203
10157	AASS	HP:0001256	Intellectual disability, mild	1/2	OMIM:238700
10157	AASS	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:3124
10157	AASS	HP:0001250	Seizure	1/2	OMIM:238700
10157	AASS	HP:0001250	Seizure	HP:0040283	ORPHA:3124
10157	AASS	HP:0001250	Seizure	HP:0040282	ORPHA:2203
10157	AASS	HP:0001252	Hypotonia	-	OMIM:238700
10157	AASS	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2203
10157	AASS	HP:0001264	Spastic diplegia	HP:0040283	ORPHA:2203
10157	AASS	HP:0001264	Spastic diplegia	HP:0040283	ORPHA:3124
10157	AASS	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2203
10157	AASS	HP:0032397	Citrullinuria	HP:0040283	ORPHA:3124
10157	AASS	HP:0500204	Decreased CSF arginine concentration	HP:0040282	ORPHA:2203
10157	AASS	HP:0500204	Decreased CSF arginine concentration	1/1	OMIM:238700
10157	AASS	HP:0500243	Abnormal CSF ornithine concentration	HP:0040282	ORPHA:2203
10157	AASS	HP:0500208	Increased CSF lysine concentration	HP:0040282	ORPHA:2203
10157	AASS	HP:0500208	Increased CSF lysine concentration	1/1	OMIM:238700
10157	AASS	HP:0025331	Upgaze palsy	HP:0040283	ORPHA:2203
10157	AASS	HP:0001348	Brisk reflexes	HP:0040283	ORPHA:2203
10157	AASS	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:2203
10157	AASS	HP:0000007	Autosomal recessive inheritance	-	OMIM:238700
10157	AASS	HP:0001337	Tremor	HP:0040283	ORPHA:3124
10157	AASS	HP:0001337	Tremor	HP:0040283	ORPHA:2203
10157	AASS	HP:0001310	Dysmetria	HP:0040283	ORPHA:2203
10157	AASS	HP:0008947	Floppy infant	HP:0040282	ORPHA:2203
10157	AASS	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:2203
10157	AASS	HP:0002033	Poor suck	HP:0040283	ORPHA:2203
10157	AASS	HP:0002015	Dysphagia	HP:0040283	ORPHA:2203
10157	AASS	HP:0002013	Vomiting	HP:0040283	ORPHA:2203
10157	AASS	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:3124
10157	AASS	HP:0100543	Cognitive impairment	-	OMIM:238700
10157	AASS	HP:0002066	Gait ataxia	HP:0040283	ORPHA:3124
10157	AASS	HP:0002075	Dysdiadochokinesis	1/2	OMIM:238700
10157	AASS	HP:0034464	Homocitrullinuria	2/2	OMIM:238700
10157	AASS	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:2203
10157	AASS	HP:0002161	Hyperlysinemia	HP:0040282	ORPHA:2203
10157	AASS	HP:0002161	Hyperlysinemia	3/3	OMIM:238700
10157	AASS	HP:0002161	Hyperlysinemia	HP:0040281	ORPHA:3124
10157	AASS	HP:0002179	Opisthotonus	HP:0040283	ORPHA:2203
10157	AASS	HP:6000270	Elevated CSF saccharopine concentration	-	OMIM:238700
10157	AASS	HP:0003593	Infantile onset	2/2	OMIM:238700
10157	AASS	HP:0002275	Poor motor coordination	HP:0040283	ORPHA:2203
10157	AASS	HP:0003532	Ornithinuria	2/2	OMIM:238700
10157	AASS	HP:0009739	Hypoplasia of the antihelix	HP:0040283	ORPHA:2203
10157	AASS	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2203
10157	AASS	HP:0011966	Elevated plasma citrulline	HP:0040283	ORPHA:3124
10157	AASS	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/2	OMIM:238700
10157	AASS	HP:0001083	Ectopia lentis	-	OMIM:238700
10157	AASS	HP:0002312	Clumsiness	HP:0040283	ORPHA:2203
10157	AASS	HP:0002312	Clumsiness	1/2	OMIM:238700
10157	AASS	HP:0004971	Pulmonary artery hypoplasia	HP:0040283	ORPHA:2203
10157	AASS	HP:0031867	Neck hypertonia	HP:0040283	ORPHA:2203
10157	AASS	HP:0006889	Intellectual disability, borderline	HP:0040283	ORPHA:2203
10157	AASS	HP:0000609	Optic nerve hypoplasia	1/2	OMIM:238700
10157	AASS	HP:0000601	Hypotelorism	HP:0040283	ORPHA:2203
10157	AASS	HP:0001903	Anemia	-	OMIM:238700
10157	AASS	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:2203
10157	AASS	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:2203
10157	AASS	HP:0001987	Hyperammonemia	HP:0040283	ORPHA:3124
10157	AASS	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:2203
10157	AASS	HP:0004322	Short stature	HP:0040282	ORPHA:3124
10157	AASS	HP:0004322	Short stature	HP:0040282	ORPHA:2203
10157	AASS	HP:0000752	Hyperactivity	HP:0040283	ORPHA:2203
10157	AASS	HP:0000752	Hyperactivity	2/2	OMIM:238700
10157	AASS	HP:0100022	Abnormality of movement	HP:0040283	ORPHA:2203
10157	AASS	HP:0000736	Short attention span	HP:0040282	ORPHA:2203
10157	AASS	HP:0000736	Short attention span	1/2	OMIM:238700
10157	AASS	HP:0000750	Delayed speech and language development	1/2	OMIM:238700
10157	AASS	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:2203
10157	AASS	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2203
10157	AASS	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:2203
10157	AASS	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:3124
10157	AASS	HP:0003131	Cystinuria	HP:0040282	ORPHA:2203
10157	AASS	HP:0003131	Cystinuria	1/2	OMIM:238700
10157	AASS	HP:0003131	Cystinuria	HP:0040283	ORPHA:3124
10157	AASS	HP:0003297	Hyperlysinuria	HP:0040282	ORPHA:2203
10157	AASS	HP:0003297	Hyperlysinuria	3/3	OMIM:238700
10157	AASS	HP:0003297	Hyperlysinuria	HP:0040282	ORPHA:3124
10157	AASS	HP:0045074	Thin eyebrow	HP:0040283	ORPHA:2203
10157	AASS	HP:0003268	Argininuria	HP:0040282	ORPHA:2203
10157	AASS	HP:0003268	Argininuria	2/2	OMIM:238700
10157	AASS	HP:0000252	Microcephaly	HP:0040282	ORPHA:2203
10157	AASS	HP:0000218	High palate	HP:0040283	ORPHA:2203
10157	AASS	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2203
10157	AASS	HP:0001507	Growth abnormality	HP:0040282	ORPHA:3124
10157	AASS	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:2203
10157	AASS	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040282	ORPHA:2203
10157	AASS	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:2203
10157	AASS	HP:0002936	Distal sensory impairment	HP:0040283	ORPHA:3124
10157	AASS	HP:0011021	Abnormal circulating enzyme concentration	HP:0040281	ORPHA:3124
10157	AASS	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:2203
10157	AASS	HP:0011171	Simple febrile seizure	HP:0040283	ORPHA:2203
10157	AASS	HP:0000486	Strabismus	HP:0040283	ORPHA:2203
10157	AASS	HP:0000457	Depressed nasal ridge	HP:0040283	ORPHA:2203
10157	AASS	HP:0012403	Decreased urine alpha-ketoglutarate concentration	HP:0040282	ORPHA:2203
10159	ATP6AP2	HP:0032218	Decreased proportion of CD4-positive T cells	-	OMIM:301045
10159	ATP6AP2	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0001272	Cerebellar atrophy	1/2	OMIM:300423
10159	ATP6AP2	HP:0001270	Motor delay	HP:0040282	ORPHA:93952
10159	ATP6AP2	HP:0001270	Motor delay	-	OMIM:300423
10159	ATP6AP2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0001288	Gait disturbance	1/2	OMIM:300423
10159	ATP6AP2	HP:0001250	Seizure	1/1	OMIM:300423
10159	ATP6AP2	HP:0001250	Seizure	HP:0040283	ORPHA:363654
10159	ATP6AP2	HP:0001249	Intellectual disability	2/2	OMIM:300423
10159	ATP6AP2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:93952
10159	ATP6AP2	HP:0001265	Hyporeflexia	2/2	OMIM:300423
10159	ATP6AP2	HP:0001263	Global developmental delay	2/2	OMIM:300423
10159	ATP6AP2	HP:0001257	Spasticity	5/5	OMIM:300911
10159	ATP6AP2	HP:0001257	Spasticity	1/1	OMIM:300423
10159	ATP6AP2	HP:0001257	Spasticity	HP:0040282	ORPHA:363654
10159	ATP6AP2	HP:0002540	Inability to walk	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0002527	Falls	1/2	OMIM:300423
10159	ATP6AP2	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:363654
10159	ATP6AP2	HP:0001397	Hepatic steatosis	-	OMIM:301045
10159	ATP6AP2	HP:0000047	Hypospadias	2/3	OMIM:301045
10159	ATP6AP2	HP:0001350	Slurred speech	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0001350	Slurred speech	1/2	OMIM:300423
10159	ATP6AP2	HP:0001347	Hyperreflexia	3/5	OMIM:300911
10159	ATP6AP2	HP:0033725	Thin corpus callosum	1/1	OMIM:300423
10159	ATP6AP2	HP:0001310	Dysmetria	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0002650	Scoliosis	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0001300	Parkinsonism	5/5	OMIM:300911
10159	ATP6AP2	HP:0001300	Parkinsonism	2/2	OMIM:300423
10159	ATP6AP2	HP:0002600	Hyporeflexia of lower limbs	HP:0040282	ORPHA:93952
10159	ATP6AP2	HP:0001410	Decreased liver function	3/3	OMIM:301045
10159	ATP6AP2	HP:0001419	X-linked recessive inheritance	-	OMIM:300911
10159	ATP6AP2	HP:0001419	X-linked recessive inheritance	-	OMIM:300423
10159	ATP6AP2	HP:0001419	X-linked recessive inheritance	-	OMIM:301045
10159	ATP6AP2	HP:0001413	Micronodular cirrhosis	-	OMIM:301045
10159	ATP6AP2	HP:0002719	Recurrent infections	3/3	OMIM:301045
10159	ATP6AP2	HP:0011812	Agraphesthesia	2/2	OMIM:300423
10159	ATP6AP2	HP:0011812	Agraphesthesia	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040281	ORPHA:93952
10159	ATP6AP2	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:300423
10159	ATP6AP2	HP:0002067	Bradykinesia	4/5	OMIM:300911
10159	ATP6AP2	HP:0002067	Bradykinesia	HP:0040282	ORPHA:363654
10159	ATP6AP2	HP:0002067	Bradykinesia	2/2	OMIM:300423
10159	ATP6AP2	HP:0002063	Rigidity	1/2	OMIM:300423
10159	ATP6AP2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0002079	Hypoplasia of the corpus callosum	1/2	OMIM:300423
10159	ATP6AP2	HP:0002059	Cerebral atrophy	3/3	OMIM:300423
10159	ATP6AP2	HP:0003487	Babinski sign	3/4	OMIM:300911
10159	ATP6AP2	HP:0003487	Babinski sign	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0003487	Babinski sign	1/2	OMIM:300423
10159	ATP6AP2	HP:0003487	Babinski sign	HP:0040282	ORPHA:363654
10159	ATP6AP2	HP:0003438	Absent Achilles reflex	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0002188	Delayed CNS myelination	1/1	OMIM:300423
10159	ATP6AP2	HP:0002186	Apraxia	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0002186	Apraxia	2/2	OMIM:300423
10159	ATP6AP2	HP:0010529	Echolalia	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0010527	Astereognosis	2/2	OMIM:300423
10159	ATP6AP2	HP:0010527	Astereognosis	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0003596	Middle age onset	3/5	OMIM:300911
10159	ATP6AP2	HP:0003593	Infantile onset	-	OMIM:301045
10159	ATP6AP2	HP:0003593	Infantile onset	-	OMIM:300423
10159	ATP6AP2	HP:0002240	Hepatomegaly	-	OMIM:301045
10159	ATP6AP2	HP:0007082	Dilated third ventricle	HP:0040283	ORPHA:363654
10159	ATP6AP2	HP:0007076	Extrapyramidal muscular rigidity	HP:0040282	ORPHA:93952
10159	ATP6AP2	HP:0002396	Cogwheel rigidity	5/5	OMIM:300911
10159	ATP6AP2	HP:0002396	Cogwheel rigidity	HP:0040281	ORPHA:363654
10159	ATP6AP2	HP:0002359	Frequent falls	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0002345	Action tremor	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0002345	Action tremor	1/2	OMIM:300423
10159	ATP6AP2	HP:0003677	Slowly progressive	-	OMIM:300911
10159	ATP6AP2	HP:0002322	Resting tremor	5/5	OMIM:300911
10159	ATP6AP2	HP:0002322	Resting tremor	HP:0040281	ORPHA:363654
10159	ATP6AP2	HP:0002317	Unsteady gait	HP:0040282	ORPHA:93952
10159	ATP6AP2	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:363654
10159	ATP6AP2	HP:0010819	Atonic seizure	HP:0040282	ORPHA:93952
10159	ATP6AP2	HP:0003623	Neonatal onset	1/1	OMIM:300423
10159	ATP6AP2	HP:0002307	Drooling	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0002307	Drooling	1/2	OMIM:300423
10159	ATP6AP2	HP:0003621	Juvenile onset	1/5	OMIM:300911
10159	ATP6AP2	HP:0006801	Hyperactive deep tendon reflexes	HP:0040282	ORPHA:363654
10159	ATP6AP2	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:363654
10159	ATP6AP2	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:301045
10159	ATP6AP2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:93952
10159	ATP6AP2	HP:0000750	Delayed speech and language development	-	OMIM:300423
10159	ATP6AP2	HP:0011448	Ankle clonus	HP:0040283	ORPHA:363654
10159	ATP6AP2	HP:0000973	Cutis laxa	3/3	OMIM:301045
10159	ATP6AP2	HP:0000952	Jaundice	-	OMIM:301045
10159	ATP6AP2	HP:0000298	Mask-like facies	HP:0040283	ORPHA:363654
10159	ATP6AP2	HP:0001541	Ascites	-	OMIM:301045
10159	ATP6AP2	HP:0001513	Obesity	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0012391	Hyporeflexia of upper limbs	HP:0040282	ORPHA:93952
10159	ATP6AP2	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:301045
10159	ATP6AP2	HP:0000369	Low-set ears	2/3	OMIM:301045
10159	ATP6AP2	HP:0000341	Narrow forehead	1/1	OMIM:300423
10159	ATP6AP2	HP:0000338	Hypomimic face	4/5	OMIM:300911
10159	ATP6AP2	HP:0000338	Hypomimic face	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0000338	Hypomimic face	1/2	OMIM:300423
10159	ATP6AP2	HP:0000347	Micrognathia	2/3	OMIM:301045
10159	ATP6AP2	HP:0012301	Type II transferrin isoform profile	-	OMIM:301045
10159	ATP6AP2	HP:0001621	Weak voice	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0031629	Impaired tandem gait	1/2	OMIM:300423
10159	ATP6AP2	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0001763	Pes planus	HP:0040283	ORPHA:93952
10159	ATP6AP2	HP:0012407	Scissor gait	HP:0040283	ORPHA:363654
10159	ATP6AP2	HP:0025709	Intermediate young adult onset	1/5	OMIM:300911
10159	ATP6AP2	HP:0001848	Calcaneovalgus deformity	HP:0040283	ORPHA:93952
10161	LPAR6	HP:0025249	Comedo	-	OMIM:278150
10161	LPAR6	HP:0000007	Autosomal recessive inheritance	-	OMIM:278150
10161	LPAR6	HP:0000164	Abnormality of the dentition	0/14	OMIM:278150
10161	LPAR6	HP:0003577	Congenital onset	14/14	OMIM:278150
10161	LPAR6	HP:0002224	Woolly hair	HP:0040281	ORPHA:170
10161	LPAR6	HP:0002224	Woolly hair	14/14	OMIM:278150
10161	LPAR6	HP:0002217	Slow-growing hair	HP:0040282	ORPHA:170
10161	LPAR6	HP:0002215	Sparse axillary hair	HP:0040283	OMIM:278150
10161	LPAR6	HP:0002231	Sparse body hair	HP:0040281	ORPHA:55654
10161	LPAR6	HP:0002231	Sparse body hair	HP:0040283	ORPHA:170
10161	LPAR6	HP:0002213	Fine hair	HP:0040281	ORPHA:170
10161	LPAR6	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:55654
10161	LPAR6	HP:0002209	Sparse scalp hair	14/14	OMIM:278150
10161	LPAR6	HP:0002208	Coarse hair	14/14	OMIM:278150
10161	LPAR6	HP:0010719	Abnormality of hair texture	HP:0040281	ORPHA:170
10161	LPAR6	HP:0002286	Fair hair	-	OMIM:278150
10161	LPAR6	HP:0002299	Brittle hair	HP:0040281	ORPHA:170
10161	LPAR6	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:170
10161	LPAR6	HP:0000615	Abnormal pupil morphology	HP:0040283	ORPHA:170
10161	LPAR6	HP:0011359	Dry hair	14/14	OMIM:278150
10161	LPAR6	HP:0000653	Sparse eyelashes	HP:0040281	ORPHA:55654
10161	LPAR6	HP:0000653	Sparse eyelashes	0/14	OMIM:278150
10161	LPAR6	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:55654
10161	LPAR6	HP:0045075	Sparse eyebrow	-	OMIM:278150
10161	LPAR6	HP:0000975	Hyperhidrosis	0/14	OMIM:278150
10161	LPAR6	HP:0008070	Sparse hair	HP:0040282	ORPHA:55654
10161	LPAR6	HP:0001596	Alopecia	HP:0040281	ORPHA:55654
10161	LPAR6	HP:0005338	Sparse lateral eyebrow	HP:0040283	ORPHA:170
10161	LPAR6	HP:0000486	Strabismus	HP:0040283	ORPHA:170
10161	LPAR6	HP:0000479	Abnormal retinal morphology	HP:0040283	ORPHA:170
10161	LPAR6	HP:0000518	Cataract	HP:0040283	ORPHA:170
10161	LPAR6	HP:0001807	Ridged nail	HP:0040283	OMIM:278150
10161	LPAR6	HP:0001803	Nail pits	HP:0040283	OMIM:278150
10165	SLC25A13	HP:0002480	Hepatic encephalopathy	HP:0040283	ORPHA:247585
10165	SLC25A13	HP:0010916	Abnormal circulating alanine concentration	HP:0040282	ORPHA:247598
10165	SLC25A13	HP:0010903	Abnormal circulating glutamine concentration	HP:0040282	ORPHA:247598
10165	SLC25A13	HP:0010909	Abnormal circulating arginine concentration	HP:0040282	ORPHA:247598
10165	SLC25A13	HP:0500153	Hyperargininemia	3/3	OMIM:605814
10165	SLC25A13	HP:0500153	Hyperargininemia	-	OMIM:603471
10165	SLC25A13	HP:0001289	Confusion	5/19	OMIM:603471
10165	SLC25A13	HP:0001289	Confusion	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0001254	Lethargy	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0001250	Seizure	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0001263	Global developmental delay	HP:0040283	ORPHA:247585
10165	SLC25A13	HP:0001259	Coma	3/19	OMIM:603471
10165	SLC25A13	HP:0001259	Coma	HP:0040283	ORPHA:247585
10165	SLC25A13	HP:0001397	Hepatic steatosis	17/19	OMIM:603471
10165	SLC25A13	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:247598
10165	SLC25A13	HP:0001397	Hepatic steatosis	HP:0040281	ORPHA:247585
10165	SLC25A13	HP:0001396	Cholestasis	HP:0040281	ORPHA:247598
10165	SLC25A13	HP:0001395	Hepatic fibrosis	11/14	OMIM:603471
10165	SLC25A13	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:247585
10165	SLC25A13	HP:0001394	Cirrhosis	-	OMIM:605814
10165	SLC25A13	HP:0012024	Hypergalactosemia	HP:0040281	ORPHA:247598
10165	SLC25A13	HP:6000785	Protein craving	-	OMIM:603471
10165	SLC25A13	HP:0000007	Autosomal recessive inheritance	-	OMIM:605814
10165	SLC25A13	HP:0000007	Autosomal recessive inheritance	-	OMIM:603471
10165	SLC25A13	HP:0001337	Tremor	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0012164	Asterixis	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040281	ORPHA:247598
10165	SLC25A13	HP:0006254	Elevated circulating alpha-fetoprotein concentration	HP:0040281	ORPHA:247598
10165	SLC25A13	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:247598
10165	SLC25A13	HP:0001406	Intrahepatic cholestasis	-	OMIM:605814
10165	SLC25A13	HP:0001403	Macrovesicular hepatic steatosis	1/1	OMIM:605814
10165	SLC25A13	HP:0001402	Hepatocellular carcinoma	1/19	OMIM:603471
10165	SLC25A13	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:247585
10165	SLC25A13	HP:0001414	Microvesicular hepatic steatosis	1/1	OMIM:605814
10165	SLC25A13	HP:0031258	Delirium	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0003354	Hyperthreoninemia	3/3	OMIM:605814
10165	SLC25A13	HP:0003354	Hyperthreoninemia	HP:0040283	ORPHA:247598
10165	SLC25A13	HP:0040301	Increased urinary glycerol	HP:0040283	ORPHA:247598
10165	SLC25A13	HP:0002014	Diarrhea	HP:0040282	ORPHA:247598
10165	SLC25A13	HP:0002014	Diarrhea	HP:0040283	ORPHA:247585
10165	SLC25A13	HP:0002013	Vomiting	HP:0040283	ORPHA:247585
10165	SLC25A13	HP:0033193	Ballooning hepatocyte degeneration	4/14	OMIM:603471
10165	SLC25A13	HP:0033196	Portal inflammation	6/14	OMIM:603471
10165	SLC25A13	HP:0030948	Elevated gamma-glutamyltransferase level	3/3	OMIM:605814
10165	SLC25A13	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040281	ORPHA:247598
10165	SLC25A13	HP:0030948	Elevated gamma-glutamyltransferase level	15/19	OMIM:603471
10165	SLC25A13	HP:0008151	Prolonged prothrombin time	HP:0040281	ORPHA:247598
10165	SLC25A13	HP:0002155	Hypertriglyceridemia	-	OMIM:605814
10165	SLC25A13	HP:0002155	Hypertriglyceridemia	-	OMIM:603471
10165	SLC25A13	HP:0002155	Hypertriglyceridemia	HP:0040281	ORPHA:247598
10165	SLC25A13	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0002181	Cerebral edema	HP:0040283	ORPHA:247585
10165	SLC25A13	HP:0002181	Cerebral edema	-	OMIM:603471
10165	SLC25A13	HP:0002161	Hyperlysinemia	3/3	OMIM:605814
10165	SLC25A13	HP:0002161	Hyperlysinemia	HP:0040282	ORPHA:247598
10165	SLC25A13	HP:0010529	Echolalia	HP:0040283	ORPHA:247585
10165	SLC25A13	HP:0008281	Acute hyperammonemia	HP:0040281	ORPHA:247585
10165	SLC25A13	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:247598
10165	SLC25A13	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:247598
10165	SLC25A13	HP:0003581	Adult onset	-	OMIM:603471
10165	SLC25A13	HP:0100785	Insomnia	HP:0040283	ORPHA:247585
10165	SLC25A13	HP:0100738	Abnormal eating behavior	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0100754	Mania	HP:0040283	ORPHA:247585
10165	SLC25A13	HP:0011966	Elevated plasma citrulline	3/3	OMIM:605814
10165	SLC25A13	HP:0011966	Elevated plasma citrulline	HP:0040281	ORPHA:247585
10165	SLC25A13	HP:0011966	Elevated plasma citrulline	HP:0040281	ORPHA:247598
10165	SLC25A13	HP:0011966	Elevated plasma citrulline	37/37	OMIM:603471
10165	SLC25A13	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0002354	Memory impairment	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0002329	Drowsiness	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0007159	Fluctuations in consciousness	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0003623	Neonatal onset	3/3	OMIM:605814
10165	SLC25A13	HP:0001903	Anemia	HP:0040283	ORPHA:247598
10165	SLC25A13	HP:0001987	Hyperammonemia	14/19	OMIM:603471
10165	SLC25A13	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:247598
10165	SLC25A13	HP:0031956	Elevated circulating aspartate aminotransferase concentration	3/3	OMIM:605814
10165	SLC25A13	HP:0031964	Elevated circulating alanine aminotransferase concentration	3/3	OMIM:605814
10165	SLC25A13	HP:0031964	Elevated circulating alanine aminotransferase concentration	17/19	OMIM:603471
10165	SLC25A13	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:247598
10165	SLC25A13	HP:0003077	Hyperlipidemia	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0003075	Hypoproteinemia	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0003073	Hypoalbuminemia	HP:0040281	ORPHA:247598
10165	SLC25A13	HP:0003073	Hypoalbuminemia	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0000805	Enuresis	HP:0040283	ORPHA:247585
10165	SLC25A13	HP:0004396	Poor appetite	HP:0040283	ORPHA:247598
10165	SLC25A13	HP:0000752	Hyperactivity	HP:0040283	ORPHA:247585
10165	SLC25A13	HP:0000738	Hallucinations	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0000737	Irritability	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0000746	Delusion	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0000711	Restlessness	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0000709	Psychosis	HP:0040283	ORPHA:247585
10165	SLC25A13	HP:0003124	Hypercholesterolemia	-	OMIM:605814
10165	SLC25A13	HP:0003124	Hypercholesterolemia	HP:0040283	ORPHA:247598
10165	SLC25A13	HP:0003124	Hypercholesterolemia	HP:0040283	ORPHA:247585
10165	SLC25A13	HP:0003119	Abnormal circulating lipid concentration	HP:0040281	ORPHA:247598
10165	SLC25A13	HP:0030765	Sleep terror	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0003155	Elevated circulating alkaline phosphatase concentration	3/3	OMIM:605814
10165	SLC25A13	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040281	ORPHA:247598
10165	SLC25A13	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:247598
10165	SLC25A13	HP:0003141	Increased LDL cholesterol concentration	HP:0040283	ORPHA:247598
10165	SLC25A13	HP:0003235	Hypermethioninemia	3/3	OMIM:605814
10165	SLC25A13	HP:0003235	Hypermethioninemia	HP:0040283	ORPHA:247598
10165	SLC25A13	HP:0003233	Decreased HDL cholesterol concentration	HP:0040283	ORPHA:247585
10165	SLC25A13	HP:0003233	Decreased HDL cholesterol concentration	-	OMIM:605814
10165	SLC25A13	HP:0003233	Decreased HDL cholesterol concentration	HP:0040283	ORPHA:247598
10165	SLC25A13	HP:0003231	Hypertyrosinemia	3/3	OMIM:605814
10165	SLC25A13	HP:0003231	Hypertyrosinemia	HP:0040282	ORPHA:247598
10165	SLC25A13	HP:0045082	Decreased body mass index	HP:0040281	ORPHA:247585
10165	SLC25A13	HP:0000952	Jaundice	HP:0040281	ORPHA:247598
10165	SLC25A13	HP:0012278	Abnormal circulating serine concentration	HP:0040283	ORPHA:247598
10165	SLC25A13	HP:0012202	Increased serum bile acid concentration	3/3	OMIM:605814
10165	SLC25A13	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:247598
10165	SLC25A13	HP:0001508	Failure to thrive	-	OMIM:605814
10165	SLC25A13	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:247598
10165	SLC25A13	HP:0001510	Growth delay	-	OMIM:605814
10165	SLC25A13	HP:0006580	Portal fibrosis	1/1	OMIM:605814
10165	SLC25A13	HP:0002919	Ketonuria	HP:0040283	ORPHA:247598
10165	SLC25A13	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:247598
10165	SLC25A13	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0002908	Conjugated hyperbilirubinemia	3/3	OMIM:605814
10165	SLC25A13	HP:0002904	Hyperbilirubinemia	3/3	OMIM:605814
10165	SLC25A13	HP:0002904	Hyperbilirubinemia	HP:0040281	ORPHA:247598
10165	SLC25A13	HP:0025630	Argininosuccinic aciduria	-	OMIM:603471
10165	SLC25A13	HP:0030166	Night sweats	HP:0040282	ORPHA:247585
10165	SLC25A13	HP:0001733	Pancreatitis	5/19	OMIM:603471
10165	SLC25A13	HP:0001733	Pancreatitis	HP:0040283	ORPHA:247585
10165	SLC25A13	HP:0000518	Cataract	HP:0040284	ORPHA:247598
10165	SLC25A13	HP:0012569	Delayed menarche	HP:0040283	ORPHA:247585
10165	SLC25A13	HP:0001892	Abnormal bleeding	HP:0040284	ORPHA:247598
10166	SLC25A15	HP:0002495	Impaired vibratory sensation	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0002495	Impaired vibratory sensation	-	OMIM:238970
10166	SLC25A15	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0007256	Abnormal pyramidal sign	2/2	OMIM:238970
10166	SLC25A15	HP:0010864	Intellectual disability, severe	1/2	OMIM:238970
10166	SLC25A15	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0001270	Motor delay	1/2	OMIM:238970
10166	SLC25A15	HP:0001289	Confusion	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0001289	Confusion	-	OMIM:238970
10166	SLC25A15	HP:0001254	Lethargy	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0001254	Lethargy	-	OMIM:238970
10166	SLC25A15	HP:0001250	Seizure	HP:0040283	ORPHA:415
10166	SLC25A15	HP:0001252	Hypotonia	-	OMIM:238970
10166	SLC25A15	HP:0001249	Intellectual disability	HP:0040282	OMIM:238970
10166	SLC25A15	HP:0001249	Intellectual disability	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0001264	Spastic diplegia	1/2	OMIM:238970
10166	SLC25A15	HP:0001263	Global developmental delay	20/20	OMIM:238970
10166	SLC25A15	HP:0001258	Spastic paraplegia	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0001258	Spastic paraplegia	2/2	OMIM:238970
10166	SLC25A15	HP:0001257	Spasticity	-	OMIM:238970
10166	SLC25A15	HP:0001259	Coma	HP:0040283	ORPHA:415
10166	SLC25A15	HP:0001259	Coma	-	OMIM:238970
10166	SLC25A15	HP:0002572	Episodic vomiting	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0002572	Episodic vomiting	-	OMIM:238970
10166	SLC25A15	HP:0001399	Hepatic failure	HP:0040284	ORPHA:415
10166	SLC25A15	HP:0012026	Hyperornithinemia	HP:0040281	ORPHA:415
10166	SLC25A15	HP:0012026	Hyperornithinemia	2/2	OMIM:238970
10166	SLC25A15	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:415
10166	SLC25A15	HP:0001347	Hyperreflexia	-	OMIM:238970
10166	SLC25A15	HP:0001328	Specific learning disability	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0001328	Specific learning disability	-	OMIM:238970
10166	SLC25A15	HP:0000007	Autosomal recessive inheritance	-	OMIM:238970
10166	SLC25A15	HP:0001310	Dysmetria	1/2	OMIM:238970
10166	SLC25A15	HP:0012115	Hepatitis	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0002789	Tachypnea	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0001410	Decreased liver function	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0001410	Decreased liver function	-	OMIM:238970
10166	SLC25A15	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:415
10166	SLC25A15	HP:0002064	Spastic gait	HP:0040283	ORPHA:415
10166	SLC25A15	HP:0002064	Spastic gait	1/2	OMIM:238970
10166	SLC25A15	HP:0002078	Truncal ataxia	1/2	OMIM:238970
10166	SLC25A15	HP:0002075	Dysdiadochokinesis	1/2	OMIM:238970
10166	SLC25A15	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0002038	Protein avoidance	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0002038	Protein avoidance	1/2	OMIM:238970
10166	SLC25A15	HP:0034464	Homocitrullinuria	2/2	OMIM:238970
10166	SLC25A15	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:415
10166	SLC25A15	HP:0002123	Generalized myoclonic seizure	-	OMIM:238970
10166	SLC25A15	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0002120	Cerebral cortical atrophy	-	OMIM:238970
10166	SLC25A15	HP:0002168	Scanning speech	1/2	OMIM:238970
10166	SLC25A15	HP:0002169	Clonus	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0002169	Clonus	-	OMIM:238970
10166	SLC25A15	HP:0003593	Infantile onset	1/2	OMIM:238970
10166	SLC25A15	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0002240	Hepatomegaly	-	OMIM:238970
10166	SLC25A15	HP:0200119	Acute hepatitis	-	OMIM:238970
10166	SLC25A15	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0011965	Abnormal circulating citrulline concentration	HP:0040281	ORPHA:415
10166	SLC25A15	HP:0007052	Multifocal cerebral white matter abnormalities	HP:0040283	ORPHA:415
10166	SLC25A15	HP:0002370	Poor coordination	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0002370	Poor coordination	-	OMIM:238970
10166	SLC25A15	HP:0002313	Spastic paraparesis	-	OMIM:238970
10166	SLC25A15	HP:0003621	Juvenile onset	1/2	OMIM:238970
10166	SLC25A15	HP:0006846	Acute encephalopathy	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0006846	Acute encephalopathy	-	OMIM:238970
10166	SLC25A15	HP:0001950	Respiratory alkalosis	HP:0040283	ORPHA:415
10166	SLC25A15	HP:0001987	Hyperammonemia	HP:0040281	ORPHA:415
10166	SLC25A15	HP:0001987	Hyperammonemia	2/2	OMIM:238970
10166	SLC25A15	HP:0000762	Decreased nerve conduction velocity	-	OMIM:238970
10166	SLC25A15	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:415
10166	SLC25A15	HP:0040030	Chorioretinal hypopigmentation	HP:0040284	ORPHA:415
10166	SLC25A15	HP:0003218	Oroticaciduria	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0003256	Abnormality of the coagulation cascade	HP:0040283	ORPHA:415
10166	SLC25A15	HP:0001508	Failure to thrive	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0001508	Failure to thrive	-	OMIM:238970
10166	SLC25A15	HP:0011098	Speech apraxia	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0007894	Hypopigmentation of the fundus	-	OMIM:238970
10166	SLC25A15	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:415
10166	SLC25A15	HP:0000533	Chorioretinal atrophy	HP:0040284	ORPHA:415
10166	SLC25A15	HP:0000533	Chorioretinal atrophy	HP:0040284	OMIM:238970
10194	TSHZ1	HP:0000006	Autosomal dominant inheritance	-	OMIM:607842
10194	TSHZ1	HP:0004409	Hyposmia	-	OMIM:607842
10194	TSHZ1	HP:0000405	Conductive hearing impairment	-	OMIM:607842
10194	TSHZ1	HP:0000413	Atresia of the external auditory canal	-	OMIM:607842
10195	ALG3	HP:0001181	Adducted thumb	-	OMIM:601110
10195	ALG3	HP:0001141	Severely reduced visual acuity	-	OMIM:601110
10195	ALG3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
10195	ALG3	HP:0001293	Cranial nerve compression	-	OMIM:131300
10195	ALG3	HP:0100807	Long fingers	-	OMIM:601110
10195	ALG3	HP:0001276	Hypertonia	HP:0040283	ORPHA:79321
10195	ALG3	HP:0001276	Hypertonia	-	OMIM:601110
10195	ALG3	HP:0001272	Cerebellar atrophy	-	OMIM:601110
10195	ALG3	HP:0001285	Spastic tetraparesis	HP:0040283	ORPHA:79321
10195	ALG3	HP:0001285	Spastic tetraparesis	1/1	OMIM:601110
10195	ALG3	HP:0001250	Seizure	HP:0040282	ORPHA:79321
10195	ALG3	HP:0001250	Seizure	1/1	OMIM:601110
10195	ALG3	HP:0001252	Hypotonia	HP:0040281	ORPHA:79321
10195	ALG3	HP:0001252	Hypotonia	2/7	OMIM:615777
10195	ALG3	HP:0001249	Intellectual disability	5/7	OMIM:615777
10195	ALG3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:79321
10195	ALG3	HP:0001263	Global developmental delay	20/20	OMIM:601110
10195	ALG3	HP:0001263	Global developmental delay	-	OMIM:615777
10195	ALG3	HP:0002521	Hypsarrhythmia	-	OMIM:601110
10195	ALG3	HP:0002515	Waddling gait	54/102	OMIM:131300
10195	ALG3	HP:0001371	Flexion contracture	-	OMIM:601110
10195	ALG3	HP:0001382	Joint hypermobility	-	OMIM:615777
10195	ALG3	HP:0001347	Hyperreflexia	-	OMIM:601110
10195	ALG3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
10195	ALG3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
10195	ALG3	HP:0001332	Dystonia	HP:0040283	ORPHA:79321
10195	ALG3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
10195	ALG3	HP:0001324	Muscle weakness	40/96	OMIM:131300
10195	ALG3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
10195	ALG3	HP:0000007	Autosomal recessive inheritance	-	OMIM:601110
10195	ALG3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
10195	ALG3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
10195	ALG3	HP:0001305	Dandy-Walker malformation	HP:0040284	ORPHA:79321
10195	ALG3	HP:0002650	Scoliosis	12/14	OMIM:131300
10195	ALG3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
10195	ALG3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
10195	ALG3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
10195	ALG3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
10195	ALG3	HP:0000193	Bifid uvula	-	OMIM:601110
10195	ALG3	HP:0012157	Subcortical cerebral atrophy	HP:0040284	ORPHA:79321
10195	ALG3	HP:0000158	Macroglossia	HP:0040284	ORPHA:79321
10195	ALG3	HP:0000175	Cleft palate	2/7	OMIM:615777
10195	ALG3	HP:0000172	Abnormal uvula morphology	HP:0040284	ORPHA:79321
10195	ALG3	HP:0008936	Axial hypotonia	-	OMIM:601110
10195	ALG3	HP:0012110	Hypoplasia of the pons	HP:0040284	ORPHA:79321
10195	ALG3	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:79321
10195	ALG3	HP:0001410	Decreased liver function	HP:0040282	ORPHA:79321
10195	ALG3	HP:0002719	Recurrent infections	HP:0040281	ORPHA:79321
10195	ALG3	HP:0002014	Diarrhea	-	OMIM:601110
10195	ALG3	HP:0002013	Vomiting	-	OMIM:601110
10195	ALG3	HP:0002089	Pulmonary hypoplasia	HP:0040284	ORPHA:79321
10195	ALG3	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:79321
10195	ALG3	HP:0002060	Abnormal cerebral morphology	HP:0040281	ORPHA:79321
10195	ALG3	HP:0002079	Hypoplasia of the corpus callosum	HP:0040284	ORPHA:79321
10195	ALG3	HP:0002059	Cerebral atrophy	-	OMIM:601110
10195	ALG3	HP:0003388	Easy fatigability	36/76	OMIM:131300
10195	ALG3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
10195	ALG3	HP:0009473	Joint contracture of the hand	-	OMIM:601110
10195	ALG3	HP:0002164	Nail dysplasia	-	OMIM:601110
10195	ALG3	HP:0003577	Congenital onset	1/1	OMIM:601110
10195	ALG3	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:79321
10195	ALG3	HP:0003510	Severe short stature	7/7	OMIM:615777
10195	ALG3	HP:0001010	Hypopigmentation of the skin	HP:0040284	ORPHA:79321
10195	ALG3	HP:0002315	Headache	-	OMIM:131300
10195	ALG3	HP:0004976	Knee dislocation	6/7	OMIM:615777
10195	ALG3	HP:0009803	Short phalanx of finger	-	OMIM:615777
10195	ALG3	HP:0009763	Limb pain	63/92	OMIM:131300
10195	ALG3	HP:0003642	Type I transferrin isoform profile	1/1	OMIM:601110
10195	ALG3	HP:0003621	Juvenile onset	-	OMIM:131300
10195	ALG3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
10195	ALG3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
10195	ALG3	HP:0000639	Nystagmus	HP:0040284	ORPHA:79321
10195	ALG3	HP:6001056	Out-toeing	-	OMIM:131300
10195	ALG3	HP:0000651	Diplopia	-	OMIM:131300
10195	ALG3	HP:0000648	Optic atrophy	1/1	OMIM:601110
10195	ALG3	HP:0000612	Iris coloboma	-	OMIM:601110
10195	ALG3	HP:0001956	Truncal obesity	2/7	OMIM:615777
10195	ALG3	HP:0001903	Anemia	HP:0040283	OMIM:131300
10195	ALG3	HP:0010049	Short metacarpal	-	OMIM:615777
10195	ALG3	HP:0000678	Dental crowding	-	OMIM:615777
10195	ALG3	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	-	OMIM:601110
10195	ALG3	HP:0000670	Carious teeth	-	OMIM:131300
10195	ALG3	HP:0011304	Broad thumb	2/7	OMIM:615777
10195	ALG3	HP:0000668	Hypodontia	-	OMIM:615777
10195	ALG3	HP:0000664	Synophrys	-	OMIM:615777
10195	ALG3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:79321
10195	ALG3	HP:0004396	Poor appetite	-	OMIM:131300
10195	ALG3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
10195	ALG3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
10195	ALG3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
10195	ALG3	HP:0003026	Short long bone	7/7	OMIM:615777
10195	ALG3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
10195	ALG3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
10195	ALG3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
10195	ALG3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
10195	ALG3	HP:0000750	Delayed speech and language development	-	OMIM:615777
10195	ALG3	HP:0011473	Villous atrophy	-	OMIM:601110
10195	ALG3	HP:0011461	Fetal onset	7/7	OMIM:615777
10195	ALG3	HP:0009125	Lipodystrophy	HP:0040284	ORPHA:79321
10195	ALG3	HP:0000774	Narrow chest	2/7	OMIM:615777
10195	ALG3	HP:0012762	Cerebral white matter atrophy	HP:0040284	ORPHA:79321
10195	ALG3	HP:0000926	Platyspondyly	1/7	OMIM:615777
10195	ALG3	HP:0003186	Inverted nipples	HP:0040283	ORPHA:79321
10195	ALG3	HP:0003180	Flat acetabular roof	-	OMIM:615777
10195	ALG3	HP:0004482	Relative macrocephaly	-	OMIM:615777
10195	ALG3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
10195	ALG3	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:79321
10195	ALG3	HP:0000823	Delayed puberty	-	OMIM:131300
10195	ALG3	HP:0040064	Abnormality of limbs	HP:0040282	ORPHA:79321
10195	ALG3	HP:0000894	Short clavicles	-	OMIM:615777
10195	ALG3	HP:0005871	Metaphyseal chondrodysplasia	HP:0040284	ORPHA:79321
10195	ALG3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
10195	ALG3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
10195	ALG3	HP:0045005	Neural tube defect	HP:0040283	ORPHA:79321
10195	ALG3	HP:0000938	Osteopenia	HP:0040282	ORPHA:79321
10195	ALG3	HP:0000286	Epicanthus	-	OMIM:601110
10195	ALG3	HP:0000286	Epicanthus	1/7	OMIM:615777
10195	ALG3	HP:0000280	Coarse facial features	2/7	OMIM:615777
10195	ALG3	HP:0002813	Abnormal limb bone morphology	HP:0040282	ORPHA:79321
10195	ALG3	HP:0002827	Hip dislocation	3/7	OMIM:615777
10195	ALG3	HP:0030084	Clinodactyly	-	OMIM:601110
10195	ALG3	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	ORPHA:79321
10195	ALG3	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:601110
10195	ALG3	HP:0000252	Microcephaly	HP:0040282	ORPHA:79321
10195	ALG3	HP:0000252	Microcephaly	1/1	OMIM:601110
10195	ALG3	HP:0000252	Microcephaly	-	OMIM:615777
10195	ALG3	HP:0000218	High palate	HP:0040284	ORPHA:79321
10195	ALG3	HP:0000218	High palate	-	OMIM:601110
10195	ALG3	HP:0002857	Genu valgum	-	OMIM:131300
10195	ALG3	HP:0001533	Slender build	-	OMIM:131300
10195	ALG3	HP:0001508	Failure to thrive	-	OMIM:601110
10195	ALG3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
10195	ALG3	HP:0007807	Optic nerve compression	-	OMIM:131300
10195	ALG3	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040280	ORPHA:79321
10195	ALG3	HP:0012368	Flat face	7/7	OMIM:615777
10195	ALG3	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:79321
10195	ALG3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
10195	ALG3	HP:0000365	Hearing impairment	HP:0040282	ORPHA:79321
10195	ALG3	HP:0000365	Hearing impairment	10/67	OMIM:131300
10195	ALG3	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040281	ORPHA:79321
10195	ALG3	HP:0000366	Abnormality of the nose	HP:0040282	ORPHA:79321
10195	ALG3	HP:0000343	Long philtrum	1/7	OMIM:615777
10195	ALG3	HP:0011001	Increased bone mineral density	-	OMIM:131300
10195	ALG3	HP:0012305	Coarctation of the descending aortic arch	HP:0040284	ORPHA:79321
10195	ALG3	HP:0000311	Round face	2/7	OMIM:615777
10195	ALG3	HP:0002970	Genu varum	-	OMIM:615777
10195	ALG3	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:79321
10195	ALG3	HP:0000303	Mandibular prognathia	-	OMIM:131300
10195	ALG3	HP:0000400	Macrotia	-	OMIM:601110
10195	ALG3	HP:0005280	Depressed nasal bridge	-	OMIM:601110
10195	ALG3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
10195	ALG3	HP:0000486	Strabismus	-	OMIM:601110
10195	ALG3	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:79321
10195	ALG3	HP:0001792	Small nail	-	OMIM:601110
10195	ALG3	HP:0012444	Brain atrophy	HP:0040283	ORPHA:79321
10195	ALG3	HP:0000470	Short neck	1/7	OMIM:615777
10195	ALG3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
10195	ALG3	HP:0001763	Pes planus	1/7	OMIM:615777
10195	ALG3	HP:0000414	Bulbous nose	-	OMIM:601110
10195	ALG3	HP:0001762	Talipes equinovarus	-	OMIM:601110
10195	ALG3	HP:0000431	Wide nasal bridge	-	OMIM:601110
10195	ALG3	HP:0000518	Cataract	HP:0040284	ORPHA:79321
10195	ALG3	HP:0001840	Metatarsus adductus	-	OMIM:615777
10195	ALG3	HP:0000520	Proptosis	2/4	OMIM:131300
10195	ALG3	HP:0000520	Proptosis	7/7	OMIM:615777
10195	ALG3	HP:0000592	Blue sclerae	2/7	OMIM:615777
10195	ALG3	HP:0012537	Food intolerance	-	OMIM:601110
10195	ALG3	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040283	ORPHA:79321
10195	ALG3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
10195	ALG3	HP:0001864	Clinodactyly of the 5th toe	-	OMIM:601110
10195	ALG3	HP:0012514	Lower limb pain	4/4	OMIM:131300
10203	CALCRL	HP:0007430	Generalized edema	-	OMIM:618773
10203	CALCRL	HP:0003826	Stillbirth	-	OMIM:618773
10203	CALCRL	HP:0000007	Autosomal recessive inheritance	-	OMIM:618773
10203	CALCRL	HP:0002202	Pleural effusion	-	OMIM:618773
10203	CALCRL	HP:0001561	Polyhydramnios	2/2	OMIM:618773
10203	CALCRL	HP:0001698	Pericardial effusion	-	OMIM:618773
10203	CALCRL	HP:0001790	Nonimmune hydrops fetalis	2/2	OMIM:618773
10205	MPZL2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618145
10205	MPZL2	HP:0003621	Juvenile onset	-	OMIM:618145
10205	MPZL2	HP:0011463	Childhood onset	-	OMIM:618145
10205	MPZL2	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:618145
10210	TOPORS	HP:0001156	Brachydactyly	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2754
10210	TOPORS	HP:0001159	Syndactyly	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
10210	TOPORS	HP:0002444	Hypothalamic hamartoma	HP:0040283	ORPHA:2754
10210	TOPORS	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
10210	TOPORS	HP:0001123	Visual field defect	HP:0040282	OMIM:609923
10210	TOPORS	HP:0002419	Molar tooth sign on MRI	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0001288	Gait disturbance	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0001250	Seizure	HP:0040283	ORPHA:2754
10210	TOPORS	HP:0001252	Hypotonia	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0001251	Ataxia	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2754
10210	TOPORS	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2754
10210	TOPORS	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:2754
10210	TOPORS	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0006145	Central Y-shaped metacarpal	HP:0040283	ORPHA:2754
10210	TOPORS	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
10210	TOPORS	HP:0001337	Tremor	HP:0040283	ORPHA:2754
10210	TOPORS	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
10210	TOPORS	HP:0000006	Autosomal dominant inheritance	-	OMIM:609923
10210	TOPORS	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:2754
10210	TOPORS	HP:0000180	Lobulated tongue	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0000199	Tongue nodules	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0000175	Cleft palate	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
10210	TOPORS	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
10210	TOPORS	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
10210	TOPORS	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
10210	TOPORS	HP:0000104	Renal agenesis	HP:0040283	ORPHA:2754
10210	TOPORS	HP:0002007	Frontal bossing	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0011802	Hamartoma of tongue	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0002104	Apnea	HP:0040283	ORPHA:2754
10210	TOPORS	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:2754
10210	TOPORS	HP:0007036	Hypoplasia of olfactory tract	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0003621	Juvenile onset	8/19	OMIM:180100
10210	TOPORS	HP:0009084	Midline notch of upper alveolar ridge	HP:0040283	ORPHA:2754
10210	TOPORS	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
10210	TOPORS	HP:0000639	Nystagmus	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
10210	TOPORS	HP:0000618	Blindness	HP:0040281	ORPHA:791
10210	TOPORS	HP:0000613	Photophobia	HP:0040281	ORPHA:791
10210	TOPORS	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
10210	TOPORS	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
10210	TOPORS	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
10210	TOPORS	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
10210	TOPORS	HP:0000662	Nyctalopia	26/28	OMIM:180100
10210	TOPORS	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
10210	TOPORS	HP:0004322	Short stature	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0011463	Childhood onset	3/19	OMIM:180100
10210	TOPORS	HP:0011462	Young adult onset	8/19	OMIM:180100
10210	TOPORS	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0030786	Photopsia	HP:0040283	ORPHA:791
10210	TOPORS	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
10210	TOPORS	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
10210	TOPORS	HP:0040019	Finger clinodactyly	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0100260	Mesoaxial polydactyly	HP:0040283	ORPHA:2754
10210	TOPORS	HP:0100258	Preaxial polydactyly	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
10210	TOPORS	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:609923
10210	TOPORS	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
10210	TOPORS	HP:0000286	Epicanthus	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0000276	Long face	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
10210	TOPORS	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
10210	TOPORS	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
10210	TOPORS	HP:0000218	High palate	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0002876	Episodic tachypnea	HP:0040283	ORPHA:2754
10210	TOPORS	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0001510	Growth delay	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
10210	TOPORS	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
10210	TOPORS	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:609923
10210	TOPORS	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0000347	Micrognathia	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2754
10210	TOPORS	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
10210	TOPORS	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
10210	TOPORS	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
10210	TOPORS	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
10210	TOPORS	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:2754
10210	TOPORS	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
10210	TOPORS	HP:0000510	Rod-cone dystrophy	-	OMIM:609923
10210	TOPORS	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
10210	TOPORS	HP:0000512	Abnormal electroretinogram	HP:0040282	OMIM:609923
10210	TOPORS	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:2754
10210	TOPORS	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
10210	TOPORS	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
10210	TOPORS	HP:0000575	Scotoma	5/18	OMIM:180100
10210	TOPORS	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
10210	TOPORS	HP:0000565	Esotropia	HP:0040282	ORPHA:2754
10210	TOPORS	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
10210	TOPORS	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
10210	TOPORS	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
10210	TOPORS	HP:0000543	Optic disc pallor	1/1	OMIM:180100
10210	TOPORS	HP:0000545	Myopia	-	OMIM:180100
10216	PRG4	HP:0008610	Infantile sensorineural hearing impairment	HP:0040284	ORPHA:2848
10216	PRG4	HP:0002563	Constrictive pericarditis	-	OMIM:208250
10216	PRG4	HP:0001225	Wrist swelling	HP:0040281	ORPHA:2848
10216	PRG4	HP:0001239	Wrist flexion contracture	-	OMIM:208250
10216	PRG4	HP:0100864	Short femoral neck	HP:0040282	ORPHA:2848
10216	PRG4	HP:0008812	Flattened femoral head	HP:0040281	ORPHA:2848
10216	PRG4	HP:0012062	Bone cyst	HP:0040282	ORPHA:2848
10216	PRG4	HP:0001369	Arthritis	-	OMIM:208250
10216	PRG4	HP:0000007	Autosomal recessive inheritance	-	OMIM:208250
10216	PRG4	HP:0003940	Osteoarthritis of the elbow	HP:0040281	ORPHA:2848
10216	PRG4	HP:0002102	Pleuritis	HP:0040283	ORPHA:2848
10216	PRG4	HP:0011909	Flattened metacarpal heads	-	OMIM:208250
10216	PRG4	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:2848
10216	PRG4	HP:0033331	Acute phase response	-	ORPHA:2848
10216	PRG4	HP:0003040	Arthropathy	-	OMIM:208250
10216	PRG4	HP:0100018	Nuclear cataract	HP:0040284	ORPHA:2848
10216	PRG4	HP:0005879	Congenital finger flexion contractures	-	OMIM:208250
10216	PRG4	HP:0000939	Osteoporosis	HP:0040282	ORPHA:2848
10216	PRG4	HP:0002812	Coxa vara	HP:0040281	ORPHA:2848
10216	PRG4	HP:0002812	Coxa vara	-	OMIM:208250
10216	PRG4	HP:0005086	Knee osteoarthritis	HP:0040281	ORPHA:2848
10216	PRG4	HP:0001541	Ascites	HP:0040284	ORPHA:2848
10216	PRG4	HP:0002938	Lumbar hyperlordosis	HP:0040281	ORPHA:2848
10216	PRG4	HP:0005197	Generalized morning stiffness	-	OMIM:208250
10216	PRG4	HP:0005195	Polyarticular arthropathy	HP:0040281	ORPHA:2848
10216	PRG4	HP:0005194	Flattened metatarsal heads	-	OMIM:208250
10216	PRG4	HP:0005186	Synovial lining hyperplasia	-	OMIM:208250
10216	PRG4	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:2848
10216	PRG4	HP:0002960	Autoimmunity	-	ORPHA:2848
10216	PRG4	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:2848
10216	PRG4	HP:0001701	Pericarditis	HP:0040283	ORPHA:2848
10216	PRG4	HP:0001836	Camptodactyly of toe	HP:0040281	ORPHA:2848
10220	GDF11	HP:0002558	Supernumerary nipple	1/6	OMIM:619122
10220	GDF11	HP:0001382	Joint hypermobility	1/6	OMIM:619122
10220	GDF11	HP:0000023	Inguinal hernia	3/6	OMIM:619122
10220	GDF11	HP:0000006	Autosomal dominant inheritance	-	OMIM:619122
10220	GDF11	HP:0000176	Submucous cleft hard palate	1/6	OMIM:619122
10220	GDF11	HP:0011800	Midface retrusion	1/6	OMIM:619122
10220	GDF11	HP:0003577	Congenital onset	-	OMIM:619122
10220	GDF11	HP:0008416	Six lumbar vertebrae	3/6	OMIM:619122
10220	GDF11	HP:0003691	Scapular winging	1/6	OMIM:619122
10220	GDF11	HP:0000767	Pectus excavatum	1/6	OMIM:619122
10220	GDF11	HP:0100333	Unilateral cleft lip	2/6	OMIM:619122
10220	GDF11	HP:0100334	Unilateral cleft palate	2/6	OMIM:619122
10220	GDF11	HP:0005815	Supernumerary ribs	5/6	OMIM:619122
10220	GDF11	HP:0000286	Epicanthus	1/6	OMIM:619122
10220	GDF11	HP:0000269	Prominent occiput	1/5	OMIM:619122
10220	GDF11	HP:0000391	Thickened helices	5/12	OMIM:619122
10220	GDF11	HP:0000349	Widow's peak	1/5	OMIM:619122
10220	GDF11	HP:0000347	Micrognathia	1/6	OMIM:619122
10220	GDF11	HP:0000463	Anteverted nares	1/6	OMIM:619122
10220	GDF11	HP:0001763	Pes planus	1/6	OMIM:619122
10220	GDF11	HP:0011261	Darwin tubercle of helix	1/6	OMIM:619122
10220	GDF11	HP:0000592	Blue sclerae	1/6	OMIM:619122
10225	CD96	HP:0001162	Postaxial hand polydactyly	-	OMIM:211750
10225	CD96	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:1308
10225	CD96	HP:0001290	Generalized hypotonia	-	OMIM:211750
10225	CD96	HP:0001250	Seizure	-	OMIM:211750
10225	CD96	HP:0001250	Seizure	HP:0040282	ORPHA:1308
10225	CD96	HP:0001252	Hypotonia	-	OMIM:211750
10225	CD96	HP:0001252	Hypotonia	HP:0040282	ORPHA:1308
10225	CD96	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1308
10225	CD96	HP:0001263	Global developmental delay	20/20	OMIM:211750
10225	CD96	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1308
10225	CD96	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:1308
10225	CD96	HP:0010978	Abnormality of immune system physiology	HP:0040282	ORPHA:1308
10225	CD96	HP:0008665	Clitoral hypertrophy	-	OMIM:211750
10225	CD96	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:1308
10225	CD96	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:1308
10225	CD96	HP:0001373	Joint dislocation	HP:0040282	ORPHA:1308
10225	CD96	HP:0000028	Cryptorchidism	-	OMIM:211750
10225	CD96	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:1308
10225	CD96	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:1308
10225	CD96	HP:0000006	Autosomal dominant inheritance	-	OMIM:211750
10225	CD96	HP:0002650	Scoliosis	-	OMIM:211750
10225	CD96	HP:0007601	Midline facial capillary hemangioma	HP:0040282	ORPHA:1308
10225	CD96	HP:0000191	Accessory oral frenulum	HP:0040282	ORPHA:1308
10225	CD96	HP:0000191	Accessory oral frenulum	-	OMIM:211750
10225	CD96	HP:0000175	Cleft palate	HP:0040283	ORPHA:1308
10225	CD96	HP:0000154	Wide mouth	-	OMIM:211750
10225	CD96	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:1308
10225	CD96	HP:0002750	Delayed skeletal maturation	-	OMIM:211750
10225	CD96	HP:0002019	Constipation	HP:0040283	ORPHA:1308
10225	CD96	HP:0009465	Ulnar deviation of finger	-	OMIM:211750
10225	CD96	HP:0009466	Radial deviation of finger	-	OMIM:211750
10225	CD96	HP:0010458	Female pseudohermaphroditism	HP:0040281	ORPHA:1308
10225	CD96	HP:0002240	Hepatomegaly	-	OMIM:211750
10225	CD96	HP:0010720	Abnormal hair pattern	HP:0040283	ORPHA:1308
10225	CD96	HP:0100720	Hypoplasia of the ear cartilage	HP:0040281	ORPHA:1308
10225	CD96	HP:0009826	Limb undergrowth	-	OMIM:211750
10225	CD96	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:1308
10225	CD96	HP:0010049	Short metacarpal	-	OMIM:211750
10225	CD96	HP:0004322	Short stature	-	OMIM:211750
10225	CD96	HP:0004322	Short stature	HP:0040282	ORPHA:1308
10225	CD96	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1308
10225	CD96	HP:0003083	Dislocated radial head	-	OMIM:211750
10225	CD96	HP:0003083	Dislocated radial head	HP:0040282	ORPHA:1308
10225	CD96	HP:0000803	Renal cortical cysts	-	OMIM:211750
10225	CD96	HP:0004378	Abnormality of the anus	HP:0040282	ORPHA:1308
10225	CD96	HP:0009100	Thick anterior alveolar ridges	-	OMIM:211750
10225	CD96	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:1308
10225	CD96	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:1308
10225	CD96	HP:0004422	Biparietal narrowing	HP:0040281	ORPHA:1308
10225	CD96	HP:0003196	Short nose	-	OMIM:211750
10225	CD96	HP:0003196	Short nose	HP:0040281	ORPHA:1308
10225	CD96	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040283	ORPHA:1308
10225	CD96	HP:0000973	Cutis laxa	-	OMIM:211750
10225	CD96	HP:0000960	Sacral dimple	HP:0040282	ORPHA:1308
10225	CD96	HP:0000286	Epicanthus	-	OMIM:211750
10225	CD96	HP:0000286	Epicanthus	HP:0040281	ORPHA:1308
10225	CD96	HP:0002827	Hip dislocation	-	OMIM:211750
10225	CD96	HP:0030084	Clinodactyly	-	OMIM:211750
10225	CD96	HP:0000243	Trigonocephaly	-	OMIM:211750
10225	CD96	HP:0000243	Trigonocephaly	HP:0040281	ORPHA:1308
10225	CD96	HP:0000252	Microcephaly	-	OMIM:211750
10225	CD96	HP:0000252	Microcephaly	HP:0040281	ORPHA:1308
10225	CD96	HP:0001582	Redundant skin	HP:0040282	ORPHA:1308
10225	CD96	HP:0000218	High palate	-	OMIM:211750
10225	CD96	HP:0000218	High palate	HP:0040281	ORPHA:1308
10225	CD96	HP:0000212	Gingival overgrowth	HP:0040281	ORPHA:1308
10225	CD96	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:1308
10225	CD96	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:1308
10225	CD96	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:1308
10225	CD96	HP:0001522	Death in infancy	HP:0040283	ORPHA:1308
10225	CD96	HP:0001539	Omphalocele	-	OMIM:211750
10225	CD96	HP:0001539	Omphalocele	HP:0040283	ORPHA:1308
10225	CD96	HP:0001508	Failure to thrive	-	OMIM:211750
10225	CD96	HP:0000358	Posteriorly rotated ears	-	OMIM:211750
10225	CD96	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:1308
10225	CD96	HP:0000369	Low-set ears	-	OMIM:211750
10225	CD96	HP:0000343	Long philtrum	HP:0040281	ORPHA:1308
10225	CD96	HP:0000347	Micrognathia	-	OMIM:211750
10225	CD96	HP:0000347	Micrognathia	HP:0040281	ORPHA:1308
10225	CD96	HP:0002983	Micromelia	-	OMIM:211750
10225	CD96	HP:0002983	Micromelia	HP:0040282	ORPHA:1308
10225	CD96	HP:0000319	Smooth philtrum	HP:0040281	ORPHA:1308
10225	CD96	HP:0001643	Patent ductus arteriosus	-	OMIM:211750
10225	CD96	HP:0001629	Ventricular septal defect	-	OMIM:211750
10225	CD96	HP:0006643	Fused sternal ossification centers	-	OMIM:211750
10225	CD96	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:1308
10225	CD96	HP:0000486	Strabismus	-	OMIM:211750
10225	CD96	HP:0000486	Strabismus	HP:0040282	ORPHA:1308
10225	CD96	HP:0000463	Anteverted nares	-	OMIM:211750
10225	CD96	HP:0000463	Anteverted nares	HP:0040281	ORPHA:1308
10225	CD96	HP:0000470	Short neck	HP:0040281	ORPHA:1308
10225	CD96	HP:0001770	Toe syndactyly	-	OMIM:211750
10225	CD96	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:1308
10225	CD96	HP:0000431	Wide nasal bridge	-	OMIM:211750
10225	CD96	HP:0001830	Postaxial foot polydactyly	-	OMIM:211750
10225	CD96	HP:0000582	Upslanted palpebral fissure	-	OMIM:211750
10225	CD96	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:1308
10225	CD96	HP:0001883	Talipes	HP:0040282	ORPHA:1308
10229	COQ7	HP:0007210	Lower limb amyotrophy	5/6	OMIM:620402
10229	COQ7	HP:0001290	Generalized hypotonia	-	OMIM:616733
10229	COQ7	HP:0001271	Polyneuropathy	-	OMIM:616733
10229	COQ7	HP:0001270	Motor delay	-	OMIM:616733
10229	COQ7	HP:0001288	Gait disturbance	3/3	OMIM:620402
10229	COQ7	HP:0001252	Hypotonia	-	OMIM:616733
10229	COQ7	HP:0001263	Global developmental delay	-	OMIM:616733
10229	COQ7	HP:0001371	Flexion contracture	-	OMIM:616733
10229	COQ7	HP:0001347	Hyperreflexia	1/3	OMIM:620402
10229	COQ7	HP:0008897	Postnatal growth retardation	-	OMIM:616733
10229	COQ7	HP:0001324	Muscle weakness	-	OMIM:616733
10229	COQ7	HP:0000007	Autosomal recessive inheritance	-	OMIM:620402
10229	COQ7	HP:0000007	Autosomal recessive inheritance	-	OMIM:616733
10229	COQ7	HP:0008994	Proximal muscle weakness in lower limbs	1/6	OMIM:620402
10229	COQ7	HP:0008997	Proximal muscle weakness in upper limbs	0/6	OMIM:620402
10229	COQ7	HP:0008959	Distal upper limb muscle weakness	6/6	OMIM:620402
10229	COQ7	HP:0000110	Renal dysplasia	-	OMIM:616733
10229	COQ7	HP:0002089	Pulmonary hypoplasia	-	OMIM:616733
10229	COQ7	HP:0002098	Respiratory distress	-	OMIM:616733
10229	COQ7	HP:0003391	Gowers sign	2/3	OMIM:620402
10229	COQ7	HP:0005932	Abnormal renal corticomedullary differentiation	-	OMIM:616733
10229	COQ7	HP:0003487	Babinski sign	1/3	OMIM:620402
10229	COQ7	HP:0010524	Disturbed sensory perception	0/6	OMIM:620402
10229	COQ7	HP:0003577	Congenital onset	-	OMIM:616733
10229	COQ7	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:620402
10229	COQ7	HP:0011968	Feeding difficulties	-	OMIM:616733
10229	COQ7	HP:0002380	Fasciculations	1/2	OMIM:620402
10229	COQ7	HP:0003621	Juvenile onset	6/6	OMIM:620402
10229	COQ7	HP:0009053	Distal lower limb muscle weakness	6/6	OMIM:620402
10229	COQ7	HP:0031993	Hoffmann sign	1/3	OMIM:620402
10229	COQ7	HP:0000726	Dementia	0/3	OMIM:620402
10229	COQ7	HP:0000822	Hypertension	-	OMIM:616733
10229	COQ7	HP:0003259	Elevated circulating creatinine concentration	-	OMIM:616733
10229	COQ7	HP:0001562	Oligohydramnios	-	OMIM:616733
10229	COQ7	HP:0001518	Small for gestational age	-	OMIM:616733
10229	COQ7	HP:0001511	Intrauterine growth retardation	-	OMIM:616733
10229	COQ7	HP:0011096	Peripheral demyelination	-	OMIM:616733
10229	COQ7	HP:0000365	Hearing impairment	-	OMIM:616733
10229	COQ7	HP:0001712	Left ventricular hypertrophy	-	OMIM:616733
10229	COQ7	HP:0001761	Pes cavus	3/3	OMIM:620402
10229	COQ7	HP:0000505	Visual impairment	-	OMIM:616733
10229	COQ7	HP:0012531	Pain	-	OMIM:616733
10233	LRRC23	HP:0034811	Bent sperm flagella	0/1	OMIM:620848
10233	LRRC23	HP:0000007	Autosomal recessive inheritance	-	OMIM:620848
10233	LRRC23	HP:0032558	Absent sperm flagella	0/1	OMIM:620848
10233	LRRC23	HP:0032559	Short sperm flagella	1/1	OMIM:620848
10233	LRRC23	HP:0032560	Coiled sperm flagella	1/1	OMIM:620848
10233	LRRC23	HP:0034011	Reduced progressive sperm motility	3/3	OMIM:620848
10233	LRRC23	HP:0011462	Young adult onset	3/3	OMIM:620848
10233	LRRC23	HP:0000798	Oligozoospermia	0/3	OMIM:620848
10233	LRRC23	HP:0003251	Male infertility	3/3	OMIM:620848
10233	LRRC23	HP:0012207	Reduced sperm motility	2/3	OMIM:620848
10235	RASGRP2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
10235	RASGRP2	HP:0001293	Cranial nerve compression	-	OMIM:131300
10235	RASGRP2	HP:0001252	Hypotonia	2/7	OMIM:615777
10235	RASGRP2	HP:0001249	Intellectual disability	5/7	OMIM:615777
10235	RASGRP2	HP:0001263	Global developmental delay	-	OMIM:615777
10235	RASGRP2	HP:0002515	Waddling gait	54/102	OMIM:131300
10235	RASGRP2	HP:0001382	Joint hypermobility	-	OMIM:615777
10235	RASGRP2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
10235	RASGRP2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
10235	RASGRP2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
10235	RASGRP2	HP:0001324	Muscle weakness	40/96	OMIM:131300
10235	RASGRP2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
10235	RASGRP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615888
10235	RASGRP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
10235	RASGRP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
10235	RASGRP2	HP:0002650	Scoliosis	12/14	OMIM:131300
10235	RASGRP2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
10235	RASGRP2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
10235	RASGRP2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
10235	RASGRP2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
10235	RASGRP2	HP:0000175	Cleft palate	2/7	OMIM:615777
10235	RASGRP2	HP:0006298	Prolonged bleeding after dental extraction	3/3	OMIM:615888
10235	RASGRP2	HP:0000132	Menorrhagia	1/1	OMIM:615888
10235	RASGRP2	HP:0003388	Easy fatigability	36/76	OMIM:131300
10235	RASGRP2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
10235	RASGRP2	HP:0008148	Impaired epinephrine-induced platelet aggregation	3/3	OMIM:615888
10235	RASGRP2	HP:0004866	Impaired ADP-induced platelet aggregation	3/3	OMIM:615888
10235	RASGRP2	HP:0003510	Severe short stature	7/7	OMIM:615777
10235	RASGRP2	HP:0002315	Headache	-	OMIM:131300
10235	RASGRP2	HP:0004976	Knee dislocation	6/7	OMIM:615777
10235	RASGRP2	HP:0009803	Short phalanx of finger	-	OMIM:615777
10235	RASGRP2	HP:0009763	Limb pain	63/92	OMIM:131300
10235	RASGRP2	HP:0003621	Juvenile onset	-	OMIM:131300
10235	RASGRP2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
10235	RASGRP2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
10235	RASGRP2	HP:6001056	Out-toeing	-	OMIM:131300
10235	RASGRP2	HP:0000651	Diplopia	-	OMIM:131300
10235	RASGRP2	HP:0001956	Truncal obesity	2/7	OMIM:615777
10235	RASGRP2	HP:0001903	Anemia	HP:0040283	OMIM:131300
10235	RASGRP2	HP:0010049	Short metacarpal	-	OMIM:615777
10235	RASGRP2	HP:0000678	Dental crowding	-	OMIM:615777
10235	RASGRP2	HP:0000670	Carious teeth	-	OMIM:131300
10235	RASGRP2	HP:0011304	Broad thumb	2/7	OMIM:615777
10235	RASGRP2	HP:0000668	Hypodontia	-	OMIM:615777
10235	RASGRP2	HP:0000664	Synophrys	-	OMIM:615777
10235	RASGRP2	HP:0004396	Poor appetite	-	OMIM:131300
10235	RASGRP2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
10235	RASGRP2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
10235	RASGRP2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
10235	RASGRP2	HP:0003010	Prolonged bleeding time	3/3	OMIM:615888
10235	RASGRP2	HP:0003026	Short long bone	7/7	OMIM:615777
10235	RASGRP2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
10235	RASGRP2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
10235	RASGRP2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
10235	RASGRP2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
10235	RASGRP2	HP:0000750	Delayed speech and language development	-	OMIM:615777
10235	RASGRP2	HP:0011463	Childhood onset	3/3	OMIM:615888
10235	RASGRP2	HP:0011461	Fetal onset	7/7	OMIM:615777
10235	RASGRP2	HP:0000774	Narrow chest	2/7	OMIM:615777
10235	RASGRP2	HP:0000926	Platyspondyly	1/7	OMIM:615777
10235	RASGRP2	HP:0003180	Flat acetabular roof	-	OMIM:615777
10235	RASGRP2	HP:0004482	Relative macrocephaly	-	OMIM:615777
10235	RASGRP2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
10235	RASGRP2	HP:0000823	Delayed puberty	-	OMIM:131300
10235	RASGRP2	HP:0000894	Short clavicles	-	OMIM:615777
10235	RASGRP2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
10235	RASGRP2	HP:0000978	Bruising susceptibility	3/3	OMIM:615888
10235	RASGRP2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
10235	RASGRP2	HP:0000286	Epicanthus	1/7	OMIM:615777
10235	RASGRP2	HP:0000280	Coarse facial features	2/7	OMIM:615777
10235	RASGRP2	HP:0002827	Hip dislocation	3/7	OMIM:615777
10235	RASGRP2	HP:0000252	Microcephaly	-	OMIM:615777
10235	RASGRP2	HP:0002857	Genu valgum	-	OMIM:131300
10235	RASGRP2	HP:0001533	Slender build	-	OMIM:131300
10235	RASGRP2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
10235	RASGRP2	HP:0007807	Optic nerve compression	-	OMIM:131300
10235	RASGRP2	HP:0012368	Flat face	7/7	OMIM:615777
10235	RASGRP2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
10235	RASGRP2	HP:0000365	Hearing impairment	10/67	OMIM:131300
10235	RASGRP2	HP:0000343	Long philtrum	1/7	OMIM:615777
10235	RASGRP2	HP:0011001	Increased bone mineral density	-	OMIM:131300
10235	RASGRP2	HP:0000311	Round face	2/7	OMIM:615777
10235	RASGRP2	HP:0002970	Genu varum	-	OMIM:615777
10235	RASGRP2	HP:0000303	Mandibular prognathia	-	OMIM:131300
10235	RASGRP2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
10235	RASGRP2	HP:0000470	Short neck	1/7	OMIM:615777
10235	RASGRP2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
10235	RASGRP2	HP:0001763	Pes planus	1/7	OMIM:615777
10235	RASGRP2	HP:0000421	Epistaxis	3/3	OMIM:615888
10235	RASGRP2	HP:0001840	Metatarsus adductus	-	OMIM:615777
10235	RASGRP2	HP:0000520	Proptosis	2/4	OMIM:131300
10235	RASGRP2	HP:0000520	Proptosis	7/7	OMIM:615777
10235	RASGRP2	HP:0000592	Blue sclerae	2/7	OMIM:615777
10235	RASGRP2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
10235	RASGRP2	HP:0012514	Lower limb pain	4/4	OMIM:131300
10236	HNRNPR	HP:0001156	Brachydactyly	4/4	OMIM:620073
10236	HNRNPR	HP:0001274	Agenesis of corpus callosum	1/5	OMIM:620073
10236	HNRNPR	HP:0001250	Seizure	3/5	OMIM:620073
10236	HNRNPR	HP:0001263	Global developmental delay	5/5	OMIM:620073
10236	HNRNPR	HP:0000066	Labial hypoplasia	1/2	OMIM:620073
10236	HNRNPR	HP:0000054	Micropenis	1/2	OMIM:620073
10236	HNRNPR	HP:0001385	Hip dysplasia	1/4	OMIM:620073
10236	HNRNPR	HP:0000028	Cryptorchidism	1/2	OMIM:620073
10236	HNRNPR	HP:0002673	Coxa valga	1/4	OMIM:620073
10236	HNRNPR	HP:0000006	Autosomal dominant inheritance	-	OMIM:620073
10236	HNRNPR	HP:0001320	Cerebellar vermis hypoplasia	3/5	OMIM:620073
10236	HNRNPR	HP:0002650	Scoliosis	1/4	OMIM:620073
10236	HNRNPR	HP:0002079	Hypoplasia of the corpus callosum	3/5	OMIM:620073
10236	HNRNPR	HP:0003577	Congenital onset	5/5	OMIM:620073
10236	HNRNPR	HP:0200134	Epileptic encephalopathy	1/5	OMIM:620073
10236	HNRNPR	HP:0007018	Attention deficit hyperactivity disorder	2/4	OMIM:620073
10236	HNRNPR	HP:0011968	Feeding difficulties	4/4	OMIM:620073
10236	HNRNPR	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/5	OMIM:620073
10236	HNRNPR	HP:0001007	Hirsutism	3/4	OMIM:620073
10236	HNRNPR	HP:0008450	Narrow vertebral interpedicular distance	1/4	OMIM:620073
10236	HNRNPR	HP:0009765	Low hanging columella	2/4	OMIM:620073
10236	HNRNPR	HP:0004209	Clinodactyly of the 5th finger	4/4	OMIM:620073
10236	HNRNPR	HP:0004279	Short palm	3/4	OMIM:620073
10236	HNRNPR	HP:0004227	Short distal phalanx of the 5th finger	4/4	OMIM:620073
10236	HNRNPR	HP:0000639	Nystagmus	1/4	OMIM:620073
10236	HNRNPR	HP:0010055	Broad hallux	3/4	OMIM:620073
10236	HNRNPR	HP:0011304	Broad thumb	3/4	OMIM:620073
10236	HNRNPR	HP:0012745	Short palpebral fissure	2/4	OMIM:620073
10236	HNRNPR	HP:0000733	Motor stereotypy	3/4	OMIM:620073
10236	HNRNPR	HP:0003183	Wide pubic symphysis	1/4	OMIM:620073
10236	HNRNPR	HP:0000878	11 pairs of ribs	1/4	OMIM:620073
10236	HNRNPR	HP:0000826	Precocious puberty	2/4	OMIM:620073
10236	HNRNPR	HP:0040022	Clinodactyly of the 2nd finger	2/4	OMIM:620073
10236	HNRNPR	HP:0005824	Clinodactyly of the 2nd toe	2/4	OMIM:620073
10236	HNRNPR	HP:0008081	Pes valgus	3/4	OMIM:620073
10236	HNRNPR	HP:0000248	Brachycephaly	3/4	OMIM:620073
10236	HNRNPR	HP:0001601	Laryngomalacia	2/4	OMIM:620073
10236	HNRNPR	HP:0000347	Micrognathia	3/4	OMIM:620073
10236	HNRNPR	HP:0001629	Ventricular septal defect	1/4	OMIM:620073
10236	HNRNPR	HP:0005280	Depressed nasal bridge	1/4	OMIM:620073
10236	HNRNPR	HP:0000486	Strabismus	3/4	OMIM:620073
10236	HNRNPR	HP:0000470	Short neck	2/4	OMIM:620073
10236	HNRNPR	HP:0001773	Short foot	3/4	OMIM:620073
10236	HNRNPR	HP:0000446	Narrow nasal bridge	1/4	OMIM:620073
10236	HNRNPR	HP:0000431	Wide nasal bridge	1/4	OMIM:620073
10236	HNRNPR	HP:0005484	Secondary microcephaly	3/4	OMIM:620073
10236	HNRNPR	HP:0000506	Telecanthus	1/4	OMIM:620073
10236	HNRNPR	HP:0000582	Upslanted palpebral fissure	3/4	OMIM:620073
10236	HNRNPR	HP:0000540	Hypermetropia	2/4	OMIM:620073
10243	GPHN	HP:0500152	Hypocystinemia	1/1	OMIM:615501
10243	GPHN	HP:0500181	Hypertaurinemia	1/1	OMIM:615501
10243	GPHN	HP:0002421	Poor head control	1/1	OMIM:615501
10243	GPHN	HP:0001290	Generalized hypotonia	1/1	OMIM:615501
10243	GPHN	HP:0001276	Hypertonia	4/4	OMIM:615501
10243	GPHN	HP:0001276	Hypertonia	HP:0040281	ORPHA:3197
10243	GPHN	HP:0001276	Hypertonia	-	OMIM:149400
10243	GPHN	HP:0001288	Gait disturbance	HP:0040282	ORPHA:3197
10243	GPHN	HP:0001250	Seizure	HP:0040283	ORPHA:3197
10243	GPHN	HP:0001250	Seizure	-	OMIM:149400
10243	GPHN	HP:0001251	Ataxia	HP:0040281	ORPHA:3197
10243	GPHN	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3197
10243	GPHN	HP:0001257	Spasticity	HP:0040281	ORPHA:3197
10243	GPHN	HP:0002509	Limb hypertonia	1/1	OMIM:615501
10243	GPHN	HP:0003811	Neonatal death	3/3	OMIM:615501
10243	GPHN	HP:0001373	Joint dislocation	HP:0040283	ORPHA:3197
10243	GPHN	HP:0001387	Joint stiffness	HP:0040281	ORPHA:3197
10243	GPHN	HP:0000023	Inguinal hernia	-	OMIM:149400
10243	GPHN	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:3197
10243	GPHN	HP:0001347	Hyperreflexia	3/3	OMIM:615501
10243	GPHN	HP:0000007	Autosomal recessive inheritance	-	OMIM:615501
10243	GPHN	HP:0000007	Autosomal recessive inheritance	-	OMIM:149400
10243	GPHN	HP:0000006	Autosomal dominant inheritance	-	OMIM:149400
10243	GPHN	HP:0001336	Myoclonus	HP:0040281	ORPHA:3197
10243	GPHN	HP:0001336	Myoclonus	-	OMIM:149400
10243	GPHN	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:615501
10243	GPHN	HP:0008936	Axial hypotonia	1/1	OMIM:615501
10243	GPHN	HP:0012110	Hypoplasia of the pons	1/1	OMIM:615501
10243	GPHN	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:3197
10243	GPHN	HP:0002036	Hiatus hernia	HP:0040281	ORPHA:3197
10243	GPHN	HP:0002069	Bilateral tonic-clonic seizure	3/3	OMIM:615501
10243	GPHN	HP:0002063	Rigidity	HP:0040281	ORPHA:3197
10243	GPHN	HP:0002123	Generalized myoclonic seizure	1/1	OMIM:615501
10243	GPHN	HP:0002126	Polymicrogyria	1/1	OMIM:615501
10243	GPHN	HP:0002104	Apnea	-	OMIM:149400
10243	GPHN	HP:0002197	Generalized-onset seizure	1/1	OMIM:615501
10243	GPHN	HP:0002267	Exaggerated startle response	-	OMIM:149400
10243	GPHN	HP:0003593	Infantile onset	-	OMIM:149400
10243	GPHN	HP:0003570	Molybdenum cofactor deficiency	1/1	OMIM:615501
10243	GPHN	HP:0003552	Muscle stiffness	HP:0040281	ORPHA:3197
10243	GPHN	HP:0003537	Hypouricemia	1/1	OMIM:615501
10243	GPHN	HP:0100790	Hernia	HP:0040282	ORPHA:3197
10243	GPHN	HP:0011968	Feeding difficulties	1/1	OMIM:615501
10243	GPHN	HP:0002380	Fasciculations	HP:0040281	ORPHA:3197
10243	GPHN	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:3197
10243	GPHN	HP:0002359	Frequent falls	-	OMIM:149400
10243	GPHN	HP:0002375	Hypokinesia	-	OMIM:149400
10243	GPHN	HP:0100633	Esophagitis	HP:0040281	ORPHA:3197
10243	GPHN	HP:0003623	Neonatal onset	4/4	OMIM:615501
10243	GPHN	HP:0003643	Sulfite oxidase deficiency	1/1	OMIM:615501
10243	GPHN	HP:0011344	Severe global developmental delay	3/3	OMIM:615501
10243	GPHN	HP:0031951	Nocturnal seizures	-	OMIM:149400
10243	GPHN	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:3197
10243	GPHN	HP:0003166	Increased urinary taurine	1/1	OMIM:615501
10243	GPHN	HP:0000817	Reduced eye contact	1/1	OMIM:615501
10243	GPHN	HP:0002827	Hip dislocation	HP:0040283	ORPHA:3197
10243	GPHN	HP:0002827	Hip dislocation	-	OMIM:149400
10243	GPHN	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:3197
10243	GPHN	HP:0001537	Umbilical hernia	-	OMIM:149400
10243	GPHN	HP:0002835	Aspiration	-	OMIM:149400
10253	SPRY2	HP:0003774	Stage 5 chronic kidney disease	2/11	OMIM:616818
10253	SPRY2	HP:0000093	Proteinuria	1/8	OMIM:616818
10253	SPRY2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616818
10253	SPRY2	HP:0003676	Progressive	-	OMIM:616818
10253	SPRY2	HP:0011462	Young adult onset	-	OMIM:616818
10253	SPRY2	HP:0000794	IgA deposition in the glomerulus	-	OMIM:616818
10253	SPRY2	HP:0000790	Hematuria	5/8	OMIM:616818
10253	SPRY2	HP:0000822	Hypertension	3/10	OMIM:616818
10253	SPRY2	HP:0012574	Mesangial hypercellularity	-	OMIM:616818
10262	SF3B4	HP:0001172	Abnormal thumb morphology	10/10	OMIM:154400
10262	SF3B4	HP:0001199	Triphalangeal thumb	-	OMIM:154400
10262	SF3B4	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:245
10262	SF3B4	HP:0008551	Microtia	HP:0040282	ORPHA:245
10262	SF3B4	HP:0008551	Microtia	HP:0040281	ORPHA:1788
10262	SF3B4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
10262	SF3B4	HP:0002410	Aqueductal stenosis	-	OMIM:154400
10262	SF3B4	HP:0002410	Aqueductal stenosis	HP:0040282	ORPHA:1788
10262	SF3B4	HP:0001293	Cranial nerve compression	-	OMIM:131300
10262	SF3B4	HP:0001252	Hypotonia	2/7	OMIM:615777
10262	SF3B4	HP:0001249	Intellectual disability	1/8	OMIM:154400
10262	SF3B4	HP:0001249	Intellectual disability	5/7	OMIM:615777
10262	SF3B4	HP:0001263	Global developmental delay	3/11	OMIM:154400
10262	SF3B4	HP:0001263	Global developmental delay	-	OMIM:615777
10262	SF3B4	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:1788
10262	SF3B4	HP:0008749	Laryngeal hypoplasia	-	OMIM:154400
10262	SF3B4	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:245
10262	SF3B4	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:1788
10262	SF3B4	HP:0002515	Waddling gait	54/102	OMIM:131300
10262	SF3B4	HP:0001377	Limited elbow extension	3/3	OMIM:154400
10262	SF3B4	HP:0001387	Joint stiffness	HP:0040282	ORPHA:245
10262	SF3B4	HP:0001382	Joint hypermobility	-	OMIM:615777
10262	SF3B4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
10262	SF3B4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
10262	SF3B4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
10262	SF3B4	HP:0001324	Muscle weakness	40/96	OMIM:131300
10262	SF3B4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
10262	SF3B4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
10262	SF3B4	HP:0000006	Autosomal dominant inheritance	-	OMIM:154400
10262	SF3B4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
10262	SF3B4	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:245
10262	SF3B4	HP:0002650	Scoliosis	-	OMIM:154400
10262	SF3B4	HP:0002650	Scoliosis	12/14	OMIM:131300
10262	SF3B4	HP:0003974	Absent radius	1/7	OMIM:154400
10262	SF3B4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
10262	SF3B4	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040282	ORPHA:1788
10262	SF3B4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
10262	SF3B4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
10262	SF3B4	HP:0000185	Cleft soft palate	1/18	OMIM:154400
10262	SF3B4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
10262	SF3B4	HP:0000175	Cleft palate	HP:0040282	ORPHA:245
10262	SF3B4	HP:0000175	Cleft palate	5/9	OMIM:154400
10262	SF3B4	HP:0000175	Cleft palate	2/7	OMIM:615777
10262	SF3B4	HP:0000174	Abnormal palate morphology	HP:0040282	ORPHA:245
10262	SF3B4	HP:0000154	Wide mouth	-	OMIM:154400
10262	SF3B4	HP:0000154	Wide mouth	HP:0040282	ORPHA:245
10262	SF3B4	HP:0007678	Lacrimal duct stenosis	3/3	OMIM:154400
10262	SF3B4	HP:0007646	Absent lower eyelashes	6/14	OMIM:154400
10262	SF3B4	HP:0000122	Unilateral renal agenesis	-	OMIM:154400
10262	SF3B4	HP:0000122	Unilateral renal agenesis	HP:0040283	ORPHA:245
10262	SF3B4	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:1788
10262	SF3B4	HP:0004692	4-5 toe syndactyly	1/1	OMIM:154400
10262	SF3B4	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:1788
10262	SF3B4	HP:0003319	Abnormality of the cervical spine	-	OMIM:154400
10262	SF3B4	HP:0011800	Midface retrusion	17/17	OMIM:154400
10262	SF3B4	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:245
10262	SF3B4	HP:0003388	Easy fatigability	36/76	OMIM:131300
10262	SF3B4	HP:0009466	Radial deviation of finger	-	OMIM:154400
10262	SF3B4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
10262	SF3B4	HP:0002139	Arrhinencephaly	HP:0040282	ORPHA:1788
10262	SF3B4	HP:0002126	Polymicrogyria	-	OMIM:154400
10262	SF3B4	HP:0009601	Aplasia/Hypoplasia of the thumb	-	OMIM:154400
10262	SF3B4	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040281	ORPHA:245
10262	SF3B4	HP:0009554	Preauricular hair displacement	1/1	OMIM:154400
10262	SF3B4	HP:0003577	Congenital onset	9/9	OMIM:154400
10262	SF3B4	HP:0002251	Aganglionic megacolon	-	OMIM:154400
10262	SF3B4	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040281	ORPHA:245
10262	SF3B4	HP:0009656	Symphalangism of the thumb	1/18	OMIM:154400
10262	SF3B4	HP:0003510	Severe short stature	7/7	OMIM:615777
10262	SF3B4	HP:0001025	Urticaria	-	OMIM:154400
10262	SF3B4	HP:0002315	Headache	-	OMIM:131300
10262	SF3B4	HP:0004977	Bilateral radial aplasia	1/1	OMIM:154400
10262	SF3B4	HP:0004976	Knee dislocation	6/7	OMIM:615777
10262	SF3B4	HP:0009829	Phocomelia	HP:0040283	ORPHA:245
10262	SF3B4	HP:0009803	Short phalanx of finger	-	OMIM:615777
10262	SF3B4	HP:0009777	Absent thumb	7/22	OMIM:154400
10262	SF3B4	HP:0009778	Short thumb	5/20	OMIM:154400
10262	SF3B4	HP:0009763	Limb pain	63/92	OMIM:131300
10262	SF3B4	HP:0003621	Juvenile onset	-	OMIM:131300
10262	SF3B4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
10262	SF3B4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
10262	SF3B4	HP:6001056	Out-toeing	-	OMIM:131300
10262	SF3B4	HP:0000651	Diplopia	-	OMIM:131300
10262	SF3B4	HP:0001956	Truncal obesity	2/7	OMIM:615777
10262	SF3B4	HP:0001903	Anemia	HP:0040283	OMIM:131300
10262	SF3B4	HP:0010049	Short metacarpal	-	OMIM:615777
10262	SF3B4	HP:0010055	Broad hallux	-	OMIM:154400
10262	SF3B4	HP:0010034	Short 1st metacarpal	2/2	OMIM:154400
10262	SF3B4	HP:0000678	Dental crowding	-	OMIM:615777
10262	SF3B4	HP:0000652	Lower eyelid coloboma	HP:0040282	ORPHA:245
10262	SF3B4	HP:0000652	Lower eyelid coloboma	-	OMIM:154400
10262	SF3B4	HP:0000670	Carious teeth	-	OMIM:131300
10262	SF3B4	HP:0011304	Broad thumb	2/7	OMIM:615777
10262	SF3B4	HP:0000668	Hypodontia	-	OMIM:615777
10262	SF3B4	HP:0000664	Synophrys	-	OMIM:615777
10262	SF3B4	HP:0004322	Short stature	2/2	OMIM:154400
10262	SF3B4	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:245
10262	SF3B4	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1788
10262	SF3B4	HP:0004396	Poor appetite	-	OMIM:131300
10262	SF3B4	HP:0003038	Fibular hypoplasia	HP:0040282	ORPHA:1788
10262	SF3B4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
10262	SF3B4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
10262	SF3B4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
10262	SF3B4	HP:0003026	Short long bone	7/7	OMIM:615777
10262	SF3B4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
10262	SF3B4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
10262	SF3B4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
10262	SF3B4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
10262	SF3B4	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:245
10262	SF3B4	HP:0000750	Delayed speech and language development	2/7	OMIM:154400
10262	SF3B4	HP:0000750	Delayed speech and language development	-	OMIM:615777
10262	SF3B4	HP:0011461	Fetal onset	7/7	OMIM:615777
10262	SF3B4	HP:0010109	Short hallux	1/1	OMIM:154400
10262	SF3B4	HP:0000774	Narrow chest	2/7	OMIM:615777
10262	SF3B4	HP:0000776	Congenital diaphragmatic hernia	1/9	OMIM:154400
10262	SF3B4	HP:0000912	Sprengel anomaly	HP:0040282	ORPHA:1788
10262	SF3B4	HP:0000926	Platyspondyly	1/7	OMIM:615777
10262	SF3B4	HP:0003180	Flat acetabular roof	-	OMIM:615777
10262	SF3B4	HP:0004482	Relative macrocephaly	-	OMIM:615777
10262	SF3B4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
10262	SF3B4	HP:0000891	Cervical ribs	1/1	OMIM:154400
10262	SF3B4	HP:0100335	Non-midline cleft of the upper lip	HP:0040283	ORPHA:245
10262	SF3B4	HP:0000813	Bicornuate uterus	-	OMIM:154400
10262	SF3B4	HP:0000823	Delayed puberty	-	OMIM:131300
10262	SF3B4	HP:0000894	Short clavicles	-	OMIM:615777
10262	SF3B4	HP:0009237	Short 5th finger	1/1	OMIM:154400
10262	SF3B4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
10262	SF3B4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
10262	SF3B4	HP:0009380	Finger aplasia	HP:0040281	ORPHA:1788
10262	SF3B4	HP:0000286	Epicanthus	1/7	OMIM:615777
10262	SF3B4	HP:0000280	Coarse facial features	2/7	OMIM:615777
10262	SF3B4	HP:0000278	Retrognathia	-	OMIM:154400
10262	SF3B4	HP:0000272	Malar flattening	-	OMIM:154400
10262	SF3B4	HP:0000272	Malar flattening	HP:0040281	ORPHA:1788
10262	SF3B4	HP:0007776	Sparse lower eyelashes	HP:0040282	ORPHA:245
10262	SF3B4	HP:0007776	Sparse lower eyelashes	5/14	OMIM:154400
10262	SF3B4	HP:0005105	Abnormal nasal morphology	HP:0040282	ORPHA:245
10262	SF3B4	HP:0002814	Abnormality of the lower limb	HP:0040283	ORPHA:245
10262	SF3B4	HP:0002827	Hip dislocation	-	OMIM:154400
10262	SF3B4	HP:0002827	Hip dislocation	3/7	OMIM:615777
10262	SF3B4	HP:0030084	Clinodactyly	-	OMIM:154400
10262	SF3B4	HP:0000238	Hydrocephalus	-	OMIM:154400
10262	SF3B4	HP:0000252	Microcephaly	-	OMIM:154400
10262	SF3B4	HP:0000252	Microcephaly	-	OMIM:615777
10262	SF3B4	HP:0000220	Velopharyngeal insufficiency	1/1	OMIM:154400
10262	SF3B4	HP:0001543	Gastroschisis	-	OMIM:154400
10262	SF3B4	HP:0002857	Genu valgum	-	OMIM:131300
10262	SF3B4	HP:0000211	Trismus	-	OMIM:154400
10262	SF3B4	HP:0001533	Slender build	-	OMIM:131300
10262	SF3B4	HP:0000204	Cleft upper lip	-	OMIM:154400
10262	SF3B4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
10262	SF3B4	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:1788
10262	SF3B4	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040282	ORPHA:1788
10262	SF3B4	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040282	ORPHA:245
10262	SF3B4	HP:0007807	Optic nerve compression	-	OMIM:131300
10262	SF3B4	HP:0012385	Camptodactyly	1/1	OMIM:154400
10262	SF3B4	HP:0000384	Preauricular skin tag	-	OMIM:154400
10262	SF3B4	HP:0012368	Flat face	7/7	OMIM:615777
10262	SF3B4	HP:0000378	Cupped ear	3/13	OMIM:154400
10262	SF3B4	HP:0000377	Abnormal pinna morphology	15/15	OMIM:154400
10262	SF3B4	HP:0001607	Subglottic stenosis	1/9	OMIM:154400
10262	SF3B4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
10262	SF3B4	HP:0006495	Aplasia/Hypoplasia of the ulna	HP:0040282	ORPHA:1788
10262	SF3B4	HP:0000365	Hearing impairment	HP:0040281	ORPHA:245
10262	SF3B4	HP:0000365	Hearing impairment	19/20	OMIM:154400
10262	SF3B4	HP:0000365	Hearing impairment	10/67	OMIM:131300
10262	SF3B4	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:245
10262	SF3B4	HP:0000358	Posteriorly rotated ears	-	OMIM:154400
10262	SF3B4	HP:0000369	Low-set ears	-	OMIM:154400
10262	SF3B4	HP:0000343	Long philtrum	1/7	OMIM:615777
10262	SF3B4	HP:0011001	Increased bone mineral density	-	OMIM:131300
10262	SF3B4	HP:0000347	Micrognathia	HP:0040281	ORPHA:245
10262	SF3B4	HP:0000347	Micrognathia	23/24	OMIM:154400
10262	SF3B4	HP:0001643	Patent ductus arteriosus	HP:0040283	OMIM:154400
10262	SF3B4	HP:0000311	Round face	2/7	OMIM:615777
10262	SF3B4	HP:0002974	Radioulnar synostosis	14/18	OMIM:154400
10262	SF3B4	HP:0002974	Radioulnar synostosis	HP:0040282	ORPHA:1788
10262	SF3B4	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:245
10262	SF3B4	HP:0002984	Hypoplasia of the radius	1/1	OMIM:154400
10262	SF3B4	HP:0002984	Hypoplasia of the radius	HP:0040282	ORPHA:245
10262	SF3B4	HP:0000324	Facial asymmetry	1/1	OMIM:154400
10262	SF3B4	HP:0001629	Ventricular septal defect	2/9	OMIM:154400
10262	SF3B4	HP:0001622	Premature birth	-	OMIM:154400
10262	SF3B4	HP:0002970	Genu varum	-	OMIM:615777
10262	SF3B4	HP:0000308	Microretrognathia	HP:0040281	ORPHA:1788
10262	SF3B4	HP:0001636	Tetralogy of Fallot	-	OMIM:154400
10262	SF3B4	HP:0000303	Mandibular prognathia	-	OMIM:131300
10262	SF3B4	HP:0001634	Mitral valve prolapse	1/1	OMIM:154400
10262	SF3B4	HP:0012478	Temporomandibular joint ankylosis	2/4	OMIM:154400
10262	SF3B4	HP:0005349	Hypoplasia of the epiglottis	-	OMIM:154400
10262	SF3B4	HP:0006657	Hypoplasia of first ribs	-	OMIM:154400
10262	SF3B4	HP:0000405	Conductive hearing impairment	6/7	OMIM:154400
10262	SF3B4	HP:0000402	Stenosis of the external auditory canal	2/13	OMIM:154400
10262	SF3B4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
10262	SF3B4	HP:0000486	Strabismus	1/1	OMIM:154400
10262	SF3B4	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:245
10262	SF3B4	HP:0000494	Downslanted palpebral fissures	20/21	OMIM:154400
10262	SF3B4	HP:0000470	Short neck	1/7	OMIM:615777
10262	SF3B4	HP:0001770	Toe syndactyly	-	OMIM:154400
10262	SF3B4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
10262	SF3B4	HP:0001763	Pes planus	1/7	OMIM:615777
10262	SF3B4	HP:0000413	Atresia of the external auditory canal	-	OMIM:154400
10262	SF3B4	HP:0000413	Atresia of the external auditory canal	HP:0040282	ORPHA:245
10262	SF3B4	HP:0001762	Talipes equinovarus	1/1	OMIM:154400
10262	SF3B4	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:1788
10262	SF3B4	HP:0000426	Prominent nasal bridge	-	OMIM:154400
10262	SF3B4	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:1788
10262	SF3B4	HP:0001849	Foot oligodactyly	-	OMIM:154400
10262	SF3B4	HP:0001845	Overlapping toe	-	OMIM:154400
10262	SF3B4	HP:0001840	Metatarsus adductus	-	OMIM:615777
10262	SF3B4	HP:0000520	Proptosis	2/4	OMIM:131300
10262	SF3B4	HP:0000520	Proptosis	7/7	OMIM:615777
10262	SF3B4	HP:0001822	Hallux valgus	1/9	OMIM:154400
10262	SF3B4	HP:0000508	Ptosis	HP:0040282	ORPHA:245
10262	SF3B4	HP:0001831	Short toe	-	OMIM:154400
10262	SF3B4	HP:0000592	Blue sclerae	2/7	OMIM:615777
10262	SF3B4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
10262	SF3B4	HP:0012514	Lower limb pain	4/4	OMIM:131300
10265	IRX5	HP:0001182	Tapered finger	2/5	OMIM:611174
10265	IRX5	HP:0001159	Syndactyly	2/2	OMIM:611174
10265	IRX5	HP:0100807	Long fingers	-	OMIM:611174
10265	IRX5	HP:0001249	Intellectual disability	2/2	OMIM:611174
10265	IRX5	HP:0001263	Global developmental delay	2/2	OMIM:611174
10265	IRX5	HP:0001385	Hip dysplasia	4/4	OMIM:611174
10265	IRX5	HP:0000023	Inguinal hernia	4/5	OMIM:611174
10265	IRX5	HP:0001363	Craniosynostosis	3/5	OMIM:611174
10265	IRX5	HP:0000028	Cryptorchidism	5/5	OMIM:611174
10265	IRX5	HP:0000007	Autosomal recessive inheritance	-	OMIM:611174
10265	IRX5	HP:0000154	Wide mouth	7/7	OMIM:611174
10265	IRX5	HP:0006297	Enamel hypoplasia	5/5	OMIM:611174
10265	IRX5	HP:0002757	Recurrent fractures	2/2	OMIM:611174
10265	IRX5	HP:0002162	Low posterior hairline	5/5	OMIM:611174
10265	IRX5	HP:0010511	Long toe	2/5	OMIM:611174
10265	IRX5	HP:0009536	Short 2nd finger	-	OMIM:611174
10265	IRX5	HP:0003577	Congenital onset	2/2	OMIM:611174
10265	IRX5	HP:0200021	Down-sloping shoulders	9/12	OMIM:611174
10265	IRX5	HP:0010813	Abnormal number of hair whorls	5/5	OMIM:611174
10265	IRX5	HP:0009759	Neck pterygia	5/7	OMIM:611174
10265	IRX5	HP:0004209	Clinodactyly of the 5th finger	2/5	OMIM:611174
10265	IRX5	HP:0001935	Microcytic anemia	4/4	OMIM:611174
10265	IRX5	HP:0001931	Hypochromic anemia	4/4	OMIM:611174
10265	IRX5	HP:0011343	Moderate global developmental delay	4/4	OMIM:611174
10265	IRX5	HP:0000689	Dental malocclusion	1/1	OMIM:611174
10265	IRX5	HP:0000653	Sparse eyelashes	2/2	OMIM:611174
10265	IRX5	HP:0000668	Hypodontia	1/1	OMIM:611174
10265	IRX5	HP:0000767	Pectus excavatum	1/3	OMIM:611174
10265	IRX5	HP:0000829	Hypoparathyroidism	1/3	OMIM:611174
10265	IRX5	HP:0045075	Sparse eyebrow	2/2	OMIM:611174
10265	IRX5	HP:0000938	Osteopenia	5/6	OMIM:611174
10265	IRX5	HP:0008070	Sparse hair	2/2	OMIM:611174
10265	IRX5	HP:0000248	Brachycephaly	5/7	OMIM:611174
10265	IRX5	HP:0000219	Thin upper lip vermilion	6/7	OMIM:611174
10265	IRX5	HP:0000218	High palate	5/5	OMIM:611174
10265	IRX5	HP:0000232	Everted lower lip vermilion	2/2	OMIM:611174
10265	IRX5	HP:0000384	Preauricular skin tag	1/5	OMIM:611174
10265	IRX5	HP:0012371	Hyperplasia of midface	2/2	OMIM:611174
10265	IRX5	HP:0011003	High myopia	3/4	OMIM:611174
10265	IRX5	HP:0000369	Low-set ears	6/6	OMIM:611174
10265	IRX5	HP:0001674	Complete atrioventricular canal defect	1/5	OMIM:611174
10265	IRX5	HP:0000343	Long philtrum	5/5	OMIM:611174
10265	IRX5	HP:0000347	Micrognathia	3/5	OMIM:611174
10265	IRX5	HP:0000319	Smooth philtrum	7/7	OMIM:611174
10265	IRX5	HP:0000316	Hypertelorism	5/5	OMIM:611174
10265	IRX5	HP:0001653	Mitral regurgitation	1/4	OMIM:611174
10265	IRX5	HP:0001631	Atrial septal defect	1/4	OMIM:611174
10265	IRX5	HP:0006677	Prolonged QRS complex	4/6	OMIM:611174
10265	IRX5	HP:0005338	Sparse lateral eyebrow	5/5	OMIM:611174
10265	IRX5	HP:0000407	Sensorineural hearing impairment	4/4	OMIM:611174
10265	IRX5	HP:0000463	Anteverted nares	5/5	OMIM:611174
10265	IRX5	HP:0000431	Wide nasal bridge	7/7	OMIM:611174
10265	IRX5	HP:0000506	Telecanthus	2/2	OMIM:611174
10265	IRX5	HP:0000581	Blepharophimosis	2/2	OMIM:611174
10265	IRX5	HP:0011220	Prominent forehead	1/2	OMIM:611174
10269	ZMPSTE24	HP:0003774	Stage 5 chronic kidney disease	1/1	OMIM:608612
10269	ZMPSTE24	HP:0008647	Pubertal developmental failure in females	HP:0040281	ORPHA:740
10269	ZMPSTE24	HP:0025169	Left ventricular systolic dysfunction	HP:0040284	ORPHA:740
10269	ZMPSTE24	HP:0025168	Left ventricular diastolic dysfunction	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0001196	Short umbilical cord	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0001196	Short umbilical cord	-	OMIM:275210
10269	ZMPSTE24	HP:0009924	Aplasia/Hypoplasia involving the nose	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0009904	Prominent ear helix	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0008573	Low-frequency sensorineural hearing impairment	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:90154
10269	ZMPSTE24	HP:0003761	Calcinosis	HP:0040282	ORPHA:90154
10269	ZMPSTE24	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
10269	ZMPSTE24	HP:0001297	Stroke	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0001293	Cranial nerve compression	-	OMIM:131300
10269	ZMPSTE24	HP:0001252	Hypotonia	2/7	OMIM:615777
10269	ZMPSTE24	HP:0001249	Intellectual disability	5/7	OMIM:615777
10269	ZMPSTE24	HP:0002597	Abnormality of the vasculature	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0001263	Global developmental delay	-	OMIM:615777
10269	ZMPSTE24	HP:0007418	Alopecia totalis	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0100840	Aplasia/Hypoplasia of the eyebrow	-	OMIM:275210
10269	ZMPSTE24	HP:0007394	Prominent superficial blood vessels	HP:0040281	ORPHA:740
10269	ZMPSTE24	HP:0007394	Prominent superficial blood vessels	7/7	OMIM:275210
10269	ZMPSTE24	HP:0001211	Abnormal fingertip morphology	HP:0040282	ORPHA:90154
10269	ZMPSTE24	HP:0002515	Waddling gait	54/102	OMIM:131300
10269	ZMPSTE24	HP:0003826	Stillbirth	-	OMIM:275210
10269	ZMPSTE24	HP:0031013	Ankylosis	7/7	OMIM:275210
10269	ZMPSTE24	HP:0003811	Neonatal death	8/8	OMIM:275210
10269	ZMPSTE24	HP:0008800	Limited hip movement	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:1662
10269	ZMPSTE24	HP:0000073	Ureteral duplication	-	OMIM:275210
10269	ZMPSTE24	HP:0025354	Abnormal cellular phenotype	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0001371	Flexion contracture	1/1	OMIM:608612
10269	ZMPSTE24	HP:0001371	Flexion contracture	-	OMIM:275210
10269	ZMPSTE24	HP:0001387	Joint stiffness	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0001382	Joint hypermobility	-	OMIM:615777
10269	ZMPSTE24	HP:0000050	Hypoplastic male external genitalia	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0000047	Hypospadias	HP:0040283	ORPHA:1662
10269	ZMPSTE24	HP:0000047	Hypospadias	-	OMIM:275210
10269	ZMPSTE24	HP:0002694	Sclerosis of skull base	-	OMIM:131300
10269	ZMPSTE24	HP:0008897	Postnatal growth retardation	-	OMIM:615777
10269	ZMPSTE24	HP:0007495	Prematurely aged appearance	HP:0040282	ORPHA:90154
10269	ZMPSTE24	HP:0007485	Absence of subcutaneous fat	HP:0040281	ORPHA:740
10269	ZMPSTE24	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
10269	ZMPSTE24	HP:0001324	Muscle weakness	40/96	OMIM:131300
10269	ZMPSTE24	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
10269	ZMPSTE24	HP:0002673	Coxa valga	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
10269	ZMPSTE24	HP:0000007	Autosomal recessive inheritance	-	OMIM:608612
10269	ZMPSTE24	HP:0000007	Autosomal recessive inheritance	-	OMIM:275210
10269	ZMPSTE24	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
10269	ZMPSTE24	HP:0002650	Scoliosis	12/14	OMIM:131300
10269	ZMPSTE24	HP:0002645	Wormian bones	-	OMIM:608612
10269	ZMPSTE24	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
10269	ZMPSTE24	HP:0002621	Atherosclerosis	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
10269	ZMPSTE24	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
10269	ZMPSTE24	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
10269	ZMPSTE24	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:90154
10269	ZMPSTE24	HP:0000160	Narrow mouth	HP:0040281	ORPHA:90154
10269	ZMPSTE24	HP:0000160	Narrow mouth	1/1	OMIM:608612
10269	ZMPSTE24	HP:0000160	Narrow mouth	HP:0040281	ORPHA:740
10269	ZMPSTE24	HP:0000160	Narrow mouth	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0000160	Narrow mouth	7/7	OMIM:275210
10269	ZMPSTE24	HP:0000176	Submucous cleft hard palate	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0000176	Submucous cleft hard palate	-	OMIM:275210
10269	ZMPSTE24	HP:0000175	Cleft palate	2/7	OMIM:615777
10269	ZMPSTE24	HP:0002797	Osteolysis	HP:0040281	ORPHA:90154
10269	ZMPSTE24	HP:0006335	Persistence of primary teeth	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0007592	Aplasia/Hypoplasia of the eccrine sweat glands	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0006266	Small placenta	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0006267	Large placenta	HP:0040283	ORPHA:1662
10269	ZMPSTE24	HP:0006248	Limited wrist movement	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0002781	Upper airway obstruction	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0000134	Female hypogonadism	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0002758	Osteoarthritis	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0002751	Kyphoscoliosis	-	OMIM:275210
10269	ZMPSTE24	HP:0005995	Decreased adipose tissue around neck	-	OMIM:608612
10269	ZMPSTE24	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0002089	Pulmonary hypoplasia	-	OMIM:275210
10269	ZMPSTE24	HP:0002092	Pulmonary arterial hypertension	HP:0040284	ORPHA:740
10269	ZMPSTE24	HP:0003388	Easy fatigability	36/76	OMIM:131300
10269	ZMPSTE24	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
10269	ZMPSTE24	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:1662
10269	ZMPSTE24	HP:0008244	Congenital adrenal hypoplasia	HP:0040283	ORPHA:1662
10269	ZMPSTE24	HP:0010505	Limitation of movement at ankles	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0011832	Narrow nasal tip	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0003593	Infantile onset	1/1	OMIM:608612
10269	ZMPSTE24	HP:0003577	Congenital onset	7/7	OMIM:275210
10269	ZMPSTE24	HP:0002223	Absent eyebrow	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0200102	Sparse or absent eyelashes	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0002232	Patchy alopecia	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:90154
10269	ZMPSTE24	HP:0002299	Brittle hair	1/1	OMIM:608612
10269	ZMPSTE24	HP:0010648	Dermal translucency	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0003510	Severe short stature	7/7	OMIM:615777
10269	ZMPSTE24	HP:0008391	Dystrophic fingernails	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0001034	Hypermelanotic macule	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0002362	Shuffling gait	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0001015	Prominent superficial veins	1/1	OMIM:608612
10269	ZMPSTE24	HP:0002315	Headache	-	OMIM:131300
10269	ZMPSTE24	HP:0004976	Knee dislocation	6/7	OMIM:615777
10269	ZMPSTE24	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0200034	Papule	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0009839	Osteolytic defects of the distal phalanges of the hand	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0009839	Osteolytic defects of the distal phalanges of the hand	-	OMIM:608612
10269	ZMPSTE24	HP:0009839	Osteolytic defects of the distal phalanges of the hand	5/5	OMIM:275210
10269	ZMPSTE24	HP:0009839	Osteolytic defects of the distal phalanges of the hand	HP:0040281	ORPHA:90154
10269	ZMPSTE24	HP:0100678	Premature skin wrinkling	HP:0040281	ORPHA:740
10269	ZMPSTE24	HP:0100679	Lack of skin elasticity	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0100613	Death in early adulthood	1/1	OMIM:608612
10269	ZMPSTE24	HP:0001070	Mottled pigmentation	1/1	OMIM:608612
10269	ZMPSTE24	HP:0009803	Short phalanx of finger	-	OMIM:608612
10269	ZMPSTE24	HP:0009803	Short phalanx of finger	-	OMIM:615777
10269	ZMPSTE24	HP:0200041	Skin erosion	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0200041	Skin erosion	7/7	OMIM:275210
10269	ZMPSTE24	HP:0010766	Ectopic calcification	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0009763	Limb pain	63/92	OMIM:131300
10269	ZMPSTE24	HP:0004970	Ascending tubular aorta aneurysm	HP:0040283	ORPHA:1662
10269	ZMPSTE24	HP:0003635	Loss of subcutaneous adipose tissue in limbs	1/1	OMIM:608612
10269	ZMPSTE24	HP:0003621	Juvenile onset	-	OMIM:131300
10269	ZMPSTE24	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
10269	ZMPSTE24	HP:0005595	Generalized hyperkeratosis	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
10269	ZMPSTE24	HP:6001056	Out-toeing	-	OMIM:131300
10269	ZMPSTE24	HP:0000651	Diplopia	-	OMIM:131300
10269	ZMPSTE24	HP:0001956	Truncal obesity	2/7	OMIM:615777
10269	ZMPSTE24	HP:0000621	Entropion	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0000621	Entropion	-	OMIM:275210
10269	ZMPSTE24	HP:0001952	Glucose intolerance	-	OMIM:608612
10269	ZMPSTE24	HP:0001903	Anemia	HP:0040283	OMIM:131300
10269	ZMPSTE24	HP:0010049	Short metacarpal	-	OMIM:615777
10269	ZMPSTE24	HP:0009064	Generalized lipodystrophy	-	OMIM:608612
10269	ZMPSTE24	HP:0009064	Generalized lipodystrophy	HP:0040282	ORPHA:90154
10269	ZMPSTE24	HP:0011354	Generalized abnormality of skin	HP:0040281	ORPHA:740
10269	ZMPSTE24	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0000678	Dental crowding	-	OMIM:615777
10269	ZMPSTE24	HP:0000678	Dental crowding	-	OMIM:608612
10269	ZMPSTE24	HP:0000678	Dental crowding	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0000695	Natal tooth	HP:0040283	ORPHA:1662
10269	ZMPSTE24	HP:0000695	Natal tooth	-	OMIM:275210
10269	ZMPSTE24	HP:0000685	Hypoplasia of teeth	-	OMIM:608612
10269	ZMPSTE24	HP:0009002	Loss of truncal subcutaneous adipose tissue	-	OMIM:608612
10269	ZMPSTE24	HP:0000653	Sparse eyelashes	7/7	OMIM:275210
10269	ZMPSTE24	HP:0000670	Carious teeth	-	OMIM:131300
10269	ZMPSTE24	HP:0011304	Broad thumb	2/7	OMIM:615777
10269	ZMPSTE24	HP:0000668	Hypodontia	-	OMIM:615777
10269	ZMPSTE24	HP:0000668	Hypodontia	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0000664	Synophrys	-	OMIM:615777
10269	ZMPSTE24	HP:0004322	Short stature	HP:0040282	ORPHA:90154
10269	ZMPSTE24	HP:0004334	Dermal atrophy	1/1	OMIM:608612
10269	ZMPSTE24	HP:0004334	Dermal atrophy	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:90154
10269	ZMPSTE24	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0004331	Decreased skull ossification	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0005659	Thoracic kyphoscoliosis	HP:0040283	ORPHA:1662
10269	ZMPSTE24	HP:0003077	Hyperlipidemia	-	OMIM:608612
10269	ZMPSTE24	HP:0003077	Hyperlipidemia	HP:0040282	ORPHA:90154
10269	ZMPSTE24	HP:0003074	Hyperglycemia	-	OMIM:608612
10269	ZMPSTE24	HP:0004388	Microcolon	HP:0040283	ORPHA:1662
10269	ZMPSTE24	HP:0004382	Mitral valve calcification	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0004380	Aortic valve calcification	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0004396	Poor appetite	-	OMIM:131300
10269	ZMPSTE24	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
10269	ZMPSTE24	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
10269	ZMPSTE24	HP:0034197	Third trimester onset	1/1	OMIM:275210
10269	ZMPSTE24	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
10269	ZMPSTE24	HP:0003026	Short long bone	7/7	OMIM:615777
10269	ZMPSTE24	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
10269	ZMPSTE24	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0012745	Short palpebral fissure	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0012745	Short palpebral fissure	-	OMIM:275210
10269	ZMPSTE24	HP:0011414	Hydropic placenta	-	OMIM:275210
10269	ZMPSTE24	HP:0000767	Pectus excavatum	2/7	OMIM:615777
10269	ZMPSTE24	HP:0000768	Pectus carinatum	1/7	OMIM:615777
10269	ZMPSTE24	HP:0000765	Abnormal thorax morphology	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
10269	ZMPSTE24	HP:0000750	Delayed speech and language development	-	OMIM:615777
10269	ZMPSTE24	HP:0011457	Loss of eyelashes	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0011461	Fetal onset	7/7	OMIM:615777
10269	ZMPSTE24	HP:0011461	Fetal onset	7/7	OMIM:275210
10269	ZMPSTE24	HP:0000774	Narrow chest	2/7	OMIM:615777
10269	ZMPSTE24	HP:0003121	Limb joint contracture	1/1	OMIM:275210
10269	ZMPSTE24	HP:0003196	Short nose	HP:0040282	ORPHA:90154
10269	ZMPSTE24	HP:0003196	Short nose	1/1	OMIM:608612
10269	ZMPSTE24	HP:0000924	Abnormality of the skeletal system	HP:0040281	ORPHA:90154
10269	ZMPSTE24	HP:0000926	Platyspondyly	1/7	OMIM:615777
10269	ZMPSTE24	HP:0003180	Flat acetabular roof	-	OMIM:615777
10269	ZMPSTE24	HP:0000905	Progressive clavicular acroosteolysis	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0000905	Progressive clavicular acroosteolysis	-	OMIM:608612
10269	ZMPSTE24	HP:0004482	Relative macrocephaly	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0004482	Relative macrocephaly	-	OMIM:615777
10269	ZMPSTE24	HP:0004492	Widely patent fontanelles and sutures	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
10269	ZMPSTE24	HP:0000883	Thin ribs	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0000855	Insulin resistance	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0000855	Insulin resistance	HP:0040282	ORPHA:90154
10269	ZMPSTE24	HP:0000835	Adrenal hypoplasia	-	OMIM:275210
10269	ZMPSTE24	HP:0000831	Insulin-resistant diabetes mellitus	-	OMIM:608612
10269	ZMPSTE24	HP:0000842	Hyperinsulinemia	-	OMIM:608612
10269	ZMPSTE24	HP:0012804	Corneal ulceration	HP:0040284	ORPHA:740
10269	ZMPSTE24	HP:0000822	Hypertension	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0000823	Delayed puberty	HP:0040283	ORPHA:90154
10269	ZMPSTE24	HP:0000823	Delayed puberty	-	OMIM:131300
10269	ZMPSTE24	HP:0010296	Ankyloglossia	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0000894	Short clavicles	1/1	OMIM:608612
10269	ZMPSTE24	HP:0000894	Short clavicles	-	OMIM:615777
10269	ZMPSTE24	HP:0000894	Short clavicles	7/7	OMIM:275210
10269	ZMPSTE24	HP:0000894	Short clavicles	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0010219	Structural foot deformity	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0030880	Raynaud phenomenon	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
10269	ZMPSTE24	HP:0003292	Decreased serum leptin	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0045075	Sparse eyebrow	7/7	OMIM:275210
10269	ZMPSTE24	HP:0030838	Hip pain	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
10269	ZMPSTE24	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:90154
10269	ZMPSTE24	HP:0000961	Cyanosis	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0000963	Thin skin	HP:0040281	ORPHA:90154
10269	ZMPSTE24	HP:0000963	Thin skin	1/1	OMIM:275210
10269	ZMPSTE24	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0000962	Hyperkeratosis	-	OMIM:275210
10269	ZMPSTE24	HP:0000938	Osteopenia	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0008070	Sparse hair	1/1	OMIM:608612
10269	ZMPSTE24	HP:0008070	Sparse hair	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0040189	Scaling skin	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0040189	Scaling skin	1/1	OMIM:275210
10269	ZMPSTE24	HP:0000286	Epicanthus	1/7	OMIM:615777
10269	ZMPSTE24	HP:0000280	Coarse facial features	2/7	OMIM:615777
10269	ZMPSTE24	HP:0000278	Retrognathia	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0000292	Loss of facial adipose tissue	1/1	OMIM:608612
10269	ZMPSTE24	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:90154
10269	ZMPSTE24	HP:0001596	Alopecia	HP:0040282	ORPHA:90154
10269	ZMPSTE24	HP:0001596	Alopecia	-	OMIM:608612
10269	ZMPSTE24	HP:0000260	Wide anterior fontanel	7/7	OMIM:275210
10269	ZMPSTE24	HP:0000270	Delayed cranial suture closure	1/1	OMIM:608612
10269	ZMPSTE24	HP:0006467	Limited shoulder movement	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0002827	Hip dislocation	3/7	OMIM:615777
10269	ZMPSTE24	HP:0002827	Hip dislocation	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0002828	Multiple joint contractures	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0006391	Overtubulated long bones	-	OMIM:275210
10269	ZMPSTE24	HP:0000239	Large fontanelles	HP:0040281	ORPHA:90154
10269	ZMPSTE24	HP:0000239	Large fontanelles	-	OMIM:275210
10269	ZMPSTE24	HP:0000252	Microcephaly	-	OMIM:615777
10269	ZMPSTE24	HP:0000218	High palate	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0000218	High palate	-	OMIM:608612
10269	ZMPSTE24	HP:0001544	Prominent umbilicus	HP:0040281	ORPHA:740
10269	ZMPSTE24	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0001562	Oligohydramnios	1/1	OMIM:275210
10269	ZMPSTE24	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:1662
10269	ZMPSTE24	HP:0001561	Polyhydramnios	-	OMIM:275210
10269	ZMPSTE24	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:740
10269	ZMPSTE24	HP:0030002	Nocturnal lagophthalmos	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0001558	Decreased fetal movement	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0001558	Decreased fetal movement	8/8	OMIM:275210
10269	ZMPSTE24	HP:0000200	Short lingual frenulum	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0001525	Severe failure to thrive	HP:0040281	ORPHA:740
10269	ZMPSTE24	HP:0002857	Genu valgum	-	OMIM:131300
10269	ZMPSTE24	HP:0001533	Slender build	-	OMIM:131300
10269	ZMPSTE24	HP:0030053	Stiff skin	HP:0040280	ORPHA:1662
10269	ZMPSTE24	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
10269	ZMPSTE24	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0001511	Intrauterine growth retardation	7/7	OMIM:275210
10269	ZMPSTE24	HP:0001510	Growth delay	1/1	OMIM:608612
10269	ZMPSTE24	HP:0007807	Optic nerve compression	-	OMIM:131300
10269	ZMPSTE24	HP:0011079	Impacted tooth	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0012368	Flat face	7/7	OMIM:615777
10269	ZMPSTE24	HP:0005253	Increased anterioposterior diameter of thorax	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0005253	Increased anterioposterior diameter of thorax	-	OMIM:275210
10269	ZMPSTE24	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0006585	Congenital pseudoarthrosis of the clavicle	-	OMIM:275210
10269	ZMPSTE24	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
10269	ZMPSTE24	HP:0006480	Premature loss of teeth	-	OMIM:608612
10269	ZMPSTE24	HP:0000365	Hearing impairment	10/67	OMIM:131300
10269	ZMPSTE24	HP:0000369	Low-set ears	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0000369	Low-set ears	-	OMIM:275210
10269	ZMPSTE24	HP:0000343	Long philtrum	1/7	OMIM:615777
10269	ZMPSTE24	HP:0011001	Increased bone mineral density	-	OMIM:131300
10269	ZMPSTE24	HP:0001669	Transposition of the great arteries	HP:0040283	ORPHA:1662
10269	ZMPSTE24	HP:0001681	Angina pectoris	HP:0040284	ORPHA:740
10269	ZMPSTE24	HP:0000347	Micrognathia	HP:0040281	ORPHA:740
10269	ZMPSTE24	HP:0000347	Micrognathia	HP:0040281	ORPHA:90154
10269	ZMPSTE24	HP:0000347	Micrognathia	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0000347	Micrognathia	-	OMIM:608612
10269	ZMPSTE24	HP:0000347	Micrognathia	7/7	OMIM:275210
10269	ZMPSTE24	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0000320	Bird-like facies	-	OMIM:608612
10269	ZMPSTE24	HP:0001651	Dextrocardia	HP:0040283	ORPHA:1662
10269	ZMPSTE24	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0000316	Hypertelorism	7/7	OMIM:275210
10269	ZMPSTE24	HP:0001646	Abnormal aortic valve morphology	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0001643	Patent ductus arteriosus	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0001643	Patent ductus arteriosus	-	OMIM:275210
10269	ZMPSTE24	HP:0000311	Round face	2/7	OMIM:615777
10269	ZMPSTE24	HP:0000331	Short chin	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0001620	Abnormally high-pitched voice	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0001622	Premature birth	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0001622	Premature birth	8/8	OMIM:275210
10269	ZMPSTE24	HP:0002970	Genu varum	-	OMIM:615777
10269	ZMPSTE24	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1662
10269	ZMPSTE24	HP:0001631	Atrial septal defect	-	OMIM:275210
10269	ZMPSTE24	HP:0000303	Mandibular prognathia	-	OMIM:131300
10269	ZMPSTE24	HP:0001633	Abnormal mitral valve morphology	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0007957	Corneal opacity	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0012478	Temporomandibular joint ankylosis	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0012478	Temporomandibular joint ankylosis	-	OMIM:275210
10269	ZMPSTE24	HP:0005328	Progeroid facial appearance	1/1	OMIM:608612
10269	ZMPSTE24	HP:0005328	Progeroid facial appearance	HP:0040282	ORPHA:90154
10269	ZMPSTE24	HP:0006645	Thin clavicles	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0006645	Thin clavicles	-	OMIM:275210
10269	ZMPSTE24	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:740
10269	ZMPSTE24	HP:0001718	Mitral stenosis	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0001714	Ventricular hypertrophy	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
10269	ZMPSTE24	HP:0005280	Depressed nasal bridge	1/1	OMIM:275210
10269	ZMPSTE24	HP:0012474	Carotid artery occlusion	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0000464	Abnormality of the neck	-	OMIM:608612
10269	ZMPSTE24	HP:0001788	Premature rupture of membranes	-	OMIM:275210
10269	ZMPSTE24	HP:0000470	Short neck	1/7	OMIM:615777
10269	ZMPSTE24	HP:0000465	Webbed neck	HP:0040283	ORPHA:1662
10269	ZMPSTE24	HP:0001799	Short nail	HP:0040283	ORPHA:1662
10269	ZMPSTE24	HP:0001799	Short nail	-	OMIM:275210
10269	ZMPSTE24	HP:0000436	Abnormal nasal tip morphology	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0001769	Broad foot	HP:0040283	OMIM:615777
10269	ZMPSTE24	HP:0001763	Pes planus	1/7	OMIM:615777
10269	ZMPSTE24	HP:0000453	Choanal atresia	HP:0040283	ORPHA:1662
10269	ZMPSTE24	HP:0000453	Choanal atresia	-	OMIM:275210
10269	ZMPSTE24	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:90154
10269	ZMPSTE24	HP:0000444	Convex nasal ridge	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0000444	Convex nasal ridge	7/7	OMIM:275210
10269	ZMPSTE24	HP:0000418	Narrow nasal ridge	1/1	OMIM:608612
10269	ZMPSTE24	HP:0000418	Narrow nasal ridge	-	OMIM:275210
10269	ZMPSTE24	HP:0000418	Narrow nasal ridge	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0025712	Spontaneous chorioamniotic separation	1/1	OMIM:275210
10269	ZMPSTE24	HP:0001757	High-frequency sensorineural hearing impairment	HP:0040283	ORPHA:740
10269	ZMPSTE24	HP:0006710	Aplasia/Hypoplasia of the clavicles	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0006710	Aplasia/Hypoplasia of the clavicles	HP:0040281	ORPHA:90154
10269	ZMPSTE24	HP:0005474	Decreased calvarial ossification	-	OMIM:275210
10269	ZMPSTE24	HP:0005461	Craniofacial disproportion	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0001840	Metatarsus adductus	-	OMIM:615777
10269	ZMPSTE24	HP:0000520	Proptosis	2/4	OMIM:131300
10269	ZMPSTE24	HP:0000520	Proptosis	HP:0040282	ORPHA:90154
10269	ZMPSTE24	HP:0000520	Proptosis	7/7	OMIM:615777
10269	ZMPSTE24	HP:0000520	Proptosis	-	OMIM:608612
10269	ZMPSTE24	HP:0001824	Weight loss	HP:0040281	ORPHA:740
10269	ZMPSTE24	HP:0001838	Rocker bottom foot	-	OMIM:275210
10269	ZMPSTE24	HP:0000506	Telecanthus	HP:0040281	ORPHA:1662
10269	ZMPSTE24	HP:0001810	Dystrophic toenail	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0000581	Blepharophimosis	-	OMIM:275210
10269	ZMPSTE24	HP:0012569	Delayed menarche	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0000592	Blue sclerae	2/7	OMIM:615777
10269	ZMPSTE24	HP:0000586	Shallow orbits	HP:0040282	ORPHA:740
10269	ZMPSTE24	HP:0000561	Absent eyelashes	-	OMIM:275210
10269	ZMPSTE24	HP:0001870	Acroosteolysis of distal phalanges (feet)	-	OMIM:608612
10269	ZMPSTE24	HP:0001870	Acroosteolysis of distal phalanges (feet)	HP:0040281	ORPHA:90154
10269	ZMPSTE24	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
10269	ZMPSTE24	HP:0012514	Lower limb pain	4/4	OMIM:131300
10273	STUB1	HP:0001181	Adducted thumb	HP:0040282	ORPHA:412057
10273	STUB1	HP:0001152	Saccadic smooth pursuit	HP:0040284	ORPHA:412057
10273	STUB1	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:412057
10273	STUB1	HP:0001105	Retinal atrophy	HP:0040284	ORPHA:412057
10273	STUB1	HP:0001272	Cerebellar atrophy	HP:0040281	ORPHA:412057
10273	STUB1	HP:0001272	Cerebellar atrophy	11/17	OMIM:618093
10273	STUB1	HP:0001272	Cerebellar atrophy	5/5	OMIM:615768
10273	STUB1	HP:0001268	Mental deterioration	8/8	OMIM:618093
10273	STUB1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:412057
10273	STUB1	HP:0001250	Seizure	HP:0040284	ORPHA:412057
10273	STUB1	HP:0001251	Ataxia	8/8	OMIM:618093
10273	STUB1	HP:0001260	Dysarthria	HP:0040281	ORPHA:412057
10273	STUB1	HP:0001260	Dysarthria	14/17	OMIM:618093
10273	STUB1	HP:0001260	Dysarthria	6/6	OMIM:615768
10273	STUB1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:412057
10273	STUB1	HP:0001257	Spasticity	HP:0040283	OMIM:615768
10273	STUB1	HP:0007371	Corpus callosum atrophy	HP:0040283	ORPHA:412057
10273	STUB1	HP:0000020	Urinary incontinence	3/9	OMIM:618093
10273	STUB1	HP:0002679	Abnormal sella turcica morphology	HP:0040284	ORPHA:412057
10273	STUB1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:412057
10273	STUB1	HP:0001347	Hyperreflexia	6/8	OMIM:618093
10273	STUB1	HP:0001347	Hyperreflexia	4/6	OMIM:615768
10273	STUB1	HP:0001332	Dystonia	3/8	OMIM:618093
10273	STUB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615768
10273	STUB1	HP:0001337	Tremor	2/8	OMIM:618093
10273	STUB1	HP:0001337	Tremor	HP:0040283	OMIM:615768
10273	STUB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618093
10273	STUB1	HP:0001310	Dysmetria	-	OMIM:618093
10273	STUB1	HP:0001321	Cerebellar hypoplasia	-	OMIM:615768
10273	STUB1	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:412057
10273	STUB1	HP:0001300	Parkinsonism	5/8	OMIM:618093
10273	STUB1	HP:0000135	Hypogonadism	-	OMIM:615768
10273	STUB1	HP:0000135	Hypogonadism	HP:0040283	ORPHA:412057
10273	STUB1	HP:0012104	Parietal cortical atrophy	HP:0040283	ORPHA:412057
10273	STUB1	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:412057
10273	STUB1	HP:0002015	Dysphagia	HP:0040283	ORPHA:412057
10273	STUB1	HP:0002015	Dysphagia	10/17	OMIM:618093
10273	STUB1	HP:0005978	Type II diabetes mellitus	HP:0040284	ORPHA:412057
10273	STUB1	HP:0100543	Cognitive impairment	3/6	OMIM:615768
10273	STUB1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:412057
10273	STUB1	HP:0002069	Bilateral tonic-clonic seizure	3/8	OMIM:618093
10273	STUB1	HP:0002066	Gait ataxia	2/8	OMIM:618093
10273	STUB1	HP:0002063	Rigidity	HP:0040283	ORPHA:412057
10273	STUB1	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:412057
10273	STUB1	HP:0002078	Truncal ataxia	6/6	OMIM:615768
10273	STUB1	HP:0002078	Truncal ataxia	HP:0040281	ORPHA:412057
10273	STUB1	HP:0002072	Chorea	4/8	OMIM:618093
10273	STUB1	HP:0002070	Limb ataxia	6/6	OMIM:615768
10273	STUB1	HP:0002070	Limb ataxia	HP:0040281	ORPHA:412057
10273	STUB1	HP:0003487	Babinski sign	1/9	OMIM:618093
10273	STUB1	HP:0003487	Babinski sign	3/6	OMIM:615768
10273	STUB1	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:412057
10273	STUB1	HP:0002174	Postural tremor	HP:0040283	ORPHA:412057
10273	STUB1	HP:0002172	Postural instability	HP:0040282	ORPHA:412057
10273	STUB1	HP:0003581	Adult onset	16/17	OMIM:618093
10273	STUB1	HP:0100785	Insomnia	-	OMIM:618093
10273	STUB1	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:412057
10273	STUB1	HP:0002378	Hand tremor	HP:0040283	ORPHA:412057
10273	STUB1	HP:0003676	Progressive	-	OMIM:618093
10273	STUB1	HP:0003676	Progressive	-	OMIM:615768
10273	STUB1	HP:0002354	Memory impairment	HP:0040283	ORPHA:412057
10273	STUB1	HP:0002346	Head tremor	HP:0040283	ORPHA:412057
10273	STUB1	HP:0002317	Unsteady gait	-	OMIM:615768
10273	STUB1	HP:0002317	Unsteady gait	HP:0040282	ORPHA:412057
10273	STUB1	HP:0100651	Type I diabetes mellitus	HP:0040284	ORPHA:412057
10273	STUB1	HP:0010831	Impaired proprioception	HP:0040282	ORPHA:412057
10273	STUB1	HP:0001094	Iridocyclitis	HP:0040284	ORPHA:412057
10273	STUB1	HP:0006801	Hyperactive deep tendon reflexes	HP:0040283	ORPHA:412057
10273	STUB1	HP:0000640	Gaze-evoked nystagmus	HP:0040283	ORPHA:412057
10273	STUB1	HP:0000639	Nystagmus	HP:0040283	ORPHA:412057
10273	STUB1	HP:0000639	Nystagmus	2/6	OMIM:615768
10273	STUB1	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:412057
10273	STUB1	HP:0000657	Oculomotor apraxia	HP:0040284	ORPHA:412057
10273	STUB1	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:412057
10273	STUB1	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:412057
10273	STUB1	HP:0004326	Cachexia	2/9	OMIM:618093
10273	STUB1	HP:0000737	Irritability	-	OMIM:618093
10273	STUB1	HP:0000739	Anxiety	15/19	OMIM:618093
10273	STUB1	HP:0000716	Depression	8/8	OMIM:618093
10273	STUB1	HP:0011448	Ankle clonus	HP:0040283	OMIM:615768
10273	STUB1	HP:0011448	Ankle clonus	HP:0040283	ORPHA:412057
10273	STUB1	HP:0000789	Infertility	HP:0040284	ORPHA:412057
10273	STUB1	HP:0000876	Oligomenorrhea	HP:0040284	ORPHA:412057
10273	STUB1	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:412057
10273	STUB1	HP:0012896	Abnormal motor evoked potentials	HP:0040282	ORPHA:412057
10273	STUB1	HP:0001596	Alopecia	HP:0040284	ORPHA:412057
10273	STUB1	HP:0011098	Speech apraxia	HP:0040283	ORPHA:412057
10273	STUB1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:412057
10273	STUB1	HP:0005328	Progeroid facial appearance	HP:0040282	ORPHA:412057
10273	STUB1	HP:0001733	Pancreatitis	HP:0040284	ORPHA:412057
10273	STUB1	HP:0000501	Glaucoma	HP:0040284	ORPHA:412057
10273	STUB1	HP:0012569	Delayed menarche	HP:0040284	ORPHA:412057
10273	STUB1	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:412057
10273	STUB1	HP:0000544	External ophthalmoplegia	2/6	OMIM:615768
10274	STAG1	HP:0001195	Single umbilical artery	1/15	OMIM:617635
10274	STAG1	HP:0010880	Increased nuchal translucency	1/15	OMIM:617635
10274	STAG1	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:502434
10274	STAG1	HP:0001250	Seizure	HP:0040282	ORPHA:502434
10274	STAG1	HP:0001250	Seizure	7/17	OMIM:617635
10274	STAG1	HP:0001252	Hypotonia	HP:0040283	ORPHA:502434
10274	STAG1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:502434
10274	STAG1	HP:0001249	Intellectual disability	17/17	OMIM:617635
10274	STAG1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:502434
10274	STAG1	HP:0001263	Global developmental delay	-	OMIM:617635
10274	STAG1	HP:0002558	Supernumerary nipple	1/17	OMIM:617635
10274	STAG1	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:502434
10274	STAG1	HP:0001377	Limited elbow extension	HP:0040283	ORPHA:502434
10274	STAG1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:502434
10274	STAG1	HP:0001382	Joint hypermobility	5/16	OMIM:617635
10274	STAG1	HP:0000050	Hypoplastic male external genitalia	HP:0040283	ORPHA:502434
10274	STAG1	HP:0000028	Cryptorchidism	2/9	OMIM:617635
10274	STAG1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:502434
10274	STAG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617635
10274	STAG1	HP:0002650	Scoliosis	2/17	OMIM:617635
10274	STAG1	HP:0002650	Scoliosis	HP:0040283	ORPHA:502434
10274	STAG1	HP:0001319	Neonatal hypotonia	4/17	OMIM:617635
10274	STAG1	HP:0000154	Wide mouth	HP:0040282	ORPHA:502434
10274	STAG1	HP:0000154	Wide mouth	13/17	OMIM:617635
10274	STAG1	HP:0006304	Widely-spaced incisors	4/17	OMIM:617635
10274	STAG1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:502434
10274	STAG1	HP:0002020	Gastroesophageal reflux	9/17	OMIM:617635
10274	STAG1	HP:0004691	2-3 toe syndactyly	HP:0040283	ORPHA:502434
10274	STAG1	HP:0002059	Cerebral atrophy	3/17	OMIM:617635
10274	STAG1	HP:0003593	Infantile onset	10/16	OMIM:617635
10274	STAG1	HP:0003577	Congenital onset	4/16	OMIM:617635
10274	STAG1	HP:0200134	Epileptic encephalopathy	HP:0040283	ORPHA:502434
10274	STAG1	HP:0011968	Feeding difficulties	-	OMIM:617635
10274	STAG1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:502434
10274	STAG1	HP:0007099	Chiari type I malformation	1/17	OMIM:617635
10274	STAG1	HP:0003623	Neonatal onset	2/16	OMIM:617635
10274	STAG1	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:502434
10274	STAG1	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:502434
10274	STAG1	HP:0000664	Synophrys	HP:0040283	ORPHA:502434
10274	STAG1	HP:0004322	Short stature	HP:0040283	ORPHA:502434
10274	STAG1	HP:0000750	Delayed speech and language development	-	OMIM:617635
10274	STAG1	HP:0000729	Autistic behavior	HP:0040282	ORPHA:502434
10274	STAG1	HP:0000729	Autistic behavior	7/17	OMIM:617635
10274	STAG1	HP:0045074	Thin eyebrow	8/17	OMIM:617635
10274	STAG1	HP:0045074	Thin eyebrow	HP:0040282	ORPHA:502434
10274	STAG1	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:502434
10274	STAG1	HP:0000965	Cutis marmorata	HP:0040283	ORPHA:502434
10274	STAG1	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:502434
10274	STAG1	HP:0001566	Widely-spaced maxillary central incisors	HP:0040283	ORPHA:502434
10274	STAG1	HP:0000252	Microcephaly	HP:0040283	ORPHA:502434
10274	STAG1	HP:0000252	Microcephaly	3/17	OMIM:617635
10274	STAG1	HP:0000218	High palate	HP:0040283	ORPHA:502434
10274	STAG1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:502434
10274	STAG1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:502434
10274	STAG1	HP:0001518	Small for gestational age	2/15	OMIM:617635
10274	STAG1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:502434
10274	STAG1	HP:0001511	Intrauterine growth retardation	3/17	OMIM:617635
10274	STAG1	HP:0000369	Low-set ears	HP:0040283	ORPHA:502434
10274	STAG1	HP:0000347	Micrognathia	HP:0040283	ORPHA:502434
10274	STAG1	HP:0001629	Ventricular septal defect	1/17	OMIM:617635
10274	STAG1	HP:0000486	Strabismus	HP:0040283	ORPHA:502434
10274	STAG1	HP:0000490	Deeply set eye	HP:0040281	ORPHA:502434
10274	STAG1	HP:0000490	Deeply set eye	14/17	OMIM:617635
10274	STAG1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:502434
10274	STAG1	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:502434
10274	STAG1	HP:0000426	Prominent nasal bridge	7/17	OMIM:617635
10274	STAG1	HP:0000527	Long eyelashes	HP:0040283	ORPHA:502434
10277	UBE4B	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0002465	Poor speech	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0001107	Ocular albinism	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0008551	Microtia	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0001250	Seizure	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0001252	Hypotonia	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0002591	Polyphagia	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000055	Abnormal female external genitalia morphology	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000047	Hypospadias	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0001344	Absent speech	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0002650	Scoliosis	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000160	Narrow mouth	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0000135	Hypogonadism	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000107	Renal cyst	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0002019	Constipation	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0002015	Dysphagia	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0002242	Abnormal intestine morphology	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0001009	Telangiectasia	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0008499	High hypermetropia	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000639	Nystagmus	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0004322	Short stature	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0004378	Abnormality of the anus	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0012733	Macule	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0000717	Autism	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0003198	Myopathy	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000902	Rib fusion	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000878	11 pairs of ribs	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000892	Bifid ribs	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000286	Epicanthus	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0002808	Kyphosis	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000252	Microcephaly	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0000248	Brachycephaly	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0001508	Failure to thrive	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0001513	Obesity	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000343	Long philtrum	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000307	Pointed chin	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0001734	Annular pancreas	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0000486	Strabismus	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0000490	Deeply set eye	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0000464	Abnormality of the neck	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0001773	Short foot	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0001743	Abnormality of the spleen	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0000518	Cataract	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000505	Visual impairment	HP:0040283	ORPHA:1606
10277	UBE4B	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1606
10277	UBE4B	HP:0011228	Horizontal eyebrow	HP:0040281	ORPHA:1606
10277	UBE4B	HP:0000534	Abnormal eyebrow morphology	HP:0040282	ORPHA:1606
10280	SIGMAR1	HP:0002483	Bulbar signs	HP:0040282	ORPHA:300605
10280	SIGMAR1	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:300605
10280	SIGMAR1	HP:0002460	Distal muscle weakness	3/3	OMIM:605726
10280	SIGMAR1	HP:0007269	Spinal muscular atrophy	-	OMIM:605726
10280	SIGMAR1	HP:0002425	Anarthria	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0003722	Neck flexor weakness	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0003701	Proximal muscle weakness	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0001276	Hypertonia	HP:0040282	ORPHA:300605
10280	SIGMAR1	HP:0002599	Head titubation	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:300605
10280	SIGMAR1	HP:0001251	Ataxia	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0001264	Spastic diplegia	HP:0040282	ORPHA:300605
10280	SIGMAR1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0007354	Amyotrophic lateral sclerosis	HP:0040281	ORPHA:300605
10280	SIGMAR1	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:614373
10280	SIGMAR1	HP:0007340	Lower limb muscle weakness	6/6	OMIM:614373
10280	SIGMAR1	HP:0002540	Inability to walk	HP:0040282	ORPHA:300605
10280	SIGMAR1	HP:0002544	Retrocollis	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0002530	Axial dystonia	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0002505	Loss of ambulation	2/6	OMIM:614373
10280	SIGMAR1	HP:0012048	Oromandibular dystonia	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:300605
10280	SIGMAR1	HP:0001347	Hyperreflexia	6/6	OMIM:614373
10280	SIGMAR1	HP:0001332	Dystonia	HP:0040282	ORPHA:300605
10280	SIGMAR1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:300605
10280	SIGMAR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:605726
10280	SIGMAR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614373
10280	SIGMAR1	HP:0002650	Scoliosis	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0001300	Parkinsonism	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0002015	Dysphagia	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:300605
10280	SIGMAR1	HP:0002061	Lower limb spasticity	6/6	OMIM:614373
10280	SIGMAR1	HP:0002072	Chorea	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0003487	Babinski sign	2/3	OMIM:605726
10280	SIGMAR1	HP:0003431	Decreased motor nerve conduction velocity	1/1	OMIM:605726
10280	SIGMAR1	HP:0003429	CNS hypomyelination	HP:0040282	ORPHA:300605
10280	SIGMAR1	HP:0003438	Absent Achilles reflex	3/3	OMIM:605726
10280	SIGMAR1	HP:0002169	Clonus	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:300605
10280	SIGMAR1	HP:0002179	Opisthotonus	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0033383	Decreased compound muscle action potential amplitude	1/1	OMIM:605726
10280	SIGMAR1	HP:0007083	Hyperactive patellar reflex	3/3	OMIM:605726
10280	SIGMAR1	HP:0003693	Distal amyotrophy	HP:0040281	ORPHA:300605
10280	SIGMAR1	HP:0003693	Distal amyotrophy	3/3	OMIM:605726
10280	SIGMAR1	HP:0003676	Progressive	-	OMIM:605726
10280	SIGMAR1	HP:0003677	Slowly progressive	-	OMIM:614373
10280	SIGMAR1	HP:0003621	Juvenile onset	3/3	OMIM:605726
10280	SIGMAR1	HP:0000639	Nystagmus	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0000605	Supranuclear gaze palsy	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0009027	Foot dorsiflexor weakness	3/3	OMIM:605726
10280	SIGMAR1	HP:0009005	Weakness of the intrinsic hand muscles	6/6	OMIM:614373
10280	SIGMAR1	HP:0006986	Upper limb spasticity	HP:0040281	ORPHA:300605
10280	SIGMAR1	HP:0004326	Cachexia	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0031960	Arm dystonia	HP:0040282	ORPHA:300605
10280	SIGMAR1	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:300605
10280	SIGMAR1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0011463	Childhood onset	6/6	OMIM:614373
10280	SIGMAR1	HP:0005750	Lower-limb joint contracture	HP:0040282	ORPHA:300605
10280	SIGMAR1	HP:0100360	Upper-limb joint contracture	HP:0040282	ORPHA:300605
10280	SIGMAR1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:300605
10280	SIGMAR1	HP:0034337	Claw hand deformity	1/3	OMIM:605726
10280	SIGMAR1	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:300605
10280	SIGMAR1	HP:0000252	Microcephaly	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:300605
10280	SIGMAR1	HP:0001765	Hammertoe	-	OMIM:605726
10280	SIGMAR1	HP:0001761	Pes cavus	-	OMIM:605726
10282	BET1	HP:0001324	Muscle weakness	-	OMIM:254100
10282	BET1	HP:0000007	Autosomal recessive inheritance	-	OMIM:254100
10282	BET1	HP:0003560	Muscular dystrophy	-	OMIM:254100
10282	BET1	HP:0003678	Rapidly progressive	-	OMIM:254100
10283	CWC27	HP:0001156	Brachydactyly	9/10	OMIM:250410
10283	CWC27	HP:0001156	Brachydactyly	HP:0040281	ORPHA:166035
10283	CWC27	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
10283	CWC27	HP:0001123	Visual field defect	HP:0040283	ORPHA:166035
10283	CWC27	HP:0025159	Hypoautofluorescent retinal lesion	-	OMIM:250410
10283	CWC27	HP:0009890	High anterior hairline	-	OMIM:250410
10283	CWC27	HP:0009882	Short distal phalanx of finger	-	OMIM:250410
10283	CWC27	HP:0001249	Intellectual disability	HP:0040282	ORPHA:166035
10283	CWC27	HP:0001249	Intellectual disability	4/10	OMIM:250410
10283	CWC27	HP:0001263	Global developmental delay	HP:0040282	ORPHA:166035
10283	CWC27	HP:0001263	Global developmental delay	4/10	OMIM:250410
10283	CWC27	HP:0000085	Horseshoe kidney	1/10	OMIM:250410
10283	CWC27	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:166035
10283	CWC27	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:166035
10283	CWC27	HP:0001363	Craniosynostosis	1/10	OMIM:250410
10283	CWC27	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:166035
10283	CWC27	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:166035
10283	CWC27	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
10283	CWC27	HP:0000007	Autosomal recessive inheritance	-	OMIM:250410
10283	CWC27	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
10283	CWC27	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:166035
10283	CWC27	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
10283	CWC27	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
10283	CWC27	HP:0000107	Renal cyst	1/10	OMIM:250410
10283	CWC27	HP:0000107	Renal cyst	HP:0040283	ORPHA:166035
10283	CWC27	HP:0002007	Frontal bossing	8/10	OMIM:250410
10283	CWC27	HP:0002007	Frontal bossing	HP:0040283	ORPHA:166035
10283	CWC27	HP:0002120	Cerebral cortical atrophy	1/10	OMIM:250410
10283	CWC27	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:166035
10283	CWC27	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:166035
10283	CWC27	HP:0003577	Congenital onset	1/8	OMIM:250410
10283	CWC27	HP:0002223	Absent eyebrow	2/10	OMIM:250410
10283	CWC27	HP:0002223	Absent eyebrow	HP:0040283	ORPHA:166035
10283	CWC27	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:166035
10283	CWC27	HP:0011968	Feeding difficulties	2/10	OMIM:250410
10283	CWC27	HP:0033379	Bilateral superior vena cava	1/10	OMIM:250410
10283	CWC27	HP:0007099	Chiari type I malformation	HP:0040283	ORPHA:166035
10283	CWC27	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:166035
10283	CWC27	HP:6000460	Ectopic testis	1/10	OMIM:250410
10283	CWC27	HP:0010761	Broad columella	-	OMIM:250410
10283	CWC27	HP:0010761	Broad columella	HP:0040283	ORPHA:166035
10283	CWC27	HP:0002308	Chiari malformation	1/10	OMIM:250410
10283	CWC27	HP:0003621	Juvenile onset	8/19	OMIM:180100
10283	CWC27	HP:0003621	Juvenile onset	4/8	OMIM:250410
10283	CWC27	HP:0030455	Abnormality of pattern visual evoked potentials	HP:0040283	ORPHA:166035
10283	CWC27	HP:0010049	Short metacarpal	-	OMIM:250410
10283	CWC27	HP:0010049	Short metacarpal	HP:0040283	ORPHA:166035
10283	CWC27	HP:0000662	Nyctalopia	3/3	OMIM:250410
10283	CWC27	HP:0000662	Nyctalopia	HP:0040282	ORPHA:166035
10283	CWC27	HP:0000662	Nyctalopia	26/28	OMIM:180100
10283	CWC27	HP:0000653	Sparse eyelashes	2/10	OMIM:250410
10283	CWC27	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:166035
10283	CWC27	HP:0004322	Short stature	HP:0040281	ORPHA:166035
10283	CWC27	HP:0004322	Short stature	6/10	OMIM:250410
10283	CWC27	HP:0030674	Antenatal onset	2/8	OMIM:250410
10283	CWC27	HP:0031936	Delayed ability to walk	3/10	OMIM:250410
10283	CWC27	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:166035
10283	CWC27	HP:0000750	Delayed speech and language development	3/10	OMIM:250410
10283	CWC27	HP:0000707	Abnormality of the nervous system	HP:0040281	ORPHA:166035
10283	CWC27	HP:0011463	Childhood onset	3/19	OMIM:180100
10283	CWC27	HP:0011463	Childhood onset	1/8	OMIM:250410
10283	CWC27	HP:0011462	Young adult onset	8/19	OMIM:180100
10283	CWC27	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:166035
10283	CWC27	HP:0005871	Metaphyseal chondrodysplasia	-	OMIM:250410
10283	CWC27	HP:0005871	Metaphyseal chondrodysplasia	HP:0040283	ORPHA:166035
10283	CWC27	HP:0045075	Sparse eyebrow	2/10	OMIM:250410
10283	CWC27	HP:0100255	Metaphyseal dysplasia	-	OMIM:250410
10283	CWC27	HP:0000957	Cafe-au-lait spot	2/10	OMIM:250410
10283	CWC27	HP:0000957	Cafe-au-lait spot	HP:0040283	ORPHA:166035
10283	CWC27	HP:0008070	Sparse hair	2/10	OMIM:250410
10283	CWC27	HP:0008064	Ichthyosis	2/10	OMIM:250410
10283	CWC27	HP:0008064	Ichthyosis	HP:0040283	ORPHA:166035
10283	CWC27	HP:0001596	Alopecia	2/10	OMIM:250410
10283	CWC27	HP:0001596	Alopecia	HP:0040283	ORPHA:166035
10283	CWC27	HP:0000256	Macrocephaly	2/2	OMIM:250410
10283	CWC27	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
10283	CWC27	HP:0001511	Intrauterine growth retardation	1/10	OMIM:250410
10283	CWC27	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:166035
10283	CWC27	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
10283	CWC27	HP:0000369	Low-set ears	HP:0040283	ORPHA:166035
10283	CWC27	HP:0000369	Low-set ears	8/10	OMIM:250410
10283	CWC27	HP:0000347	Micrognathia	HP:0040283	ORPHA:166035
10283	CWC27	HP:0000347	Micrognathia	8/10	OMIM:250410
10283	CWC27	HP:0030148	Heart murmur	HP:0040283	ORPHA:166035
10283	CWC27	HP:0001629	Ventricular septal defect	1/10	OMIM:250410
10283	CWC27	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:166035
10283	CWC27	HP:0005345	Abnormal vena cava morphology	HP:0040283	ORPHA:166035
10283	CWC27	HP:0007994	Peripheral visual field loss	-	OMIM:250410
10283	CWC27	HP:0000400	Macrotia	8/10	OMIM:250410
10283	CWC27	HP:0000400	Macrotia	HP:0040283	ORPHA:166035
10283	CWC27	HP:0012471	Thick vermilion border	-	OMIM:250410
10283	CWC27	HP:0000494	Downslanted palpebral fissures	8/10	OMIM:250410
10283	CWC27	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:166035
10283	CWC27	HP:0001792	Small nail	HP:0040283	OMIM:250410
10283	CWC27	HP:0001792	Small nail	HP:0040283	ORPHA:166035
10283	CWC27	HP:0001763	Pes planus	1/10	OMIM:250410
10283	CWC27	HP:0001763	Pes planus	HP:0040283	ORPHA:166035
10283	CWC27	HP:0000430	Underdeveloped nasal alae	8/10	OMIM:250410
10283	CWC27	HP:0000430	Underdeveloped nasal alae	HP:0040283	ORPHA:166035
10283	CWC27	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
10283	CWC27	HP:0000510	Rod-cone dystrophy	6/10	OMIM:250410
10283	CWC27	HP:0000510	Rod-cone dystrophy	HP:0040282	ORPHA:166035
10283	CWC27	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:166035
10283	CWC27	HP:0001822	Hallux valgus	1/10	OMIM:250410
10283	CWC27	HP:0001822	Hallux valgus	HP:0040283	ORPHA:166035
10283	CWC27	HP:0000575	Scotoma	5/18	OMIM:180100
10283	CWC27	HP:0000561	Absent eyelashes	2/10	OMIM:250410
10283	CWC27	HP:0000561	Absent eyelashes	HP:0040283	ORPHA:166035
10283	CWC27	HP:0000546	Retinal degeneration	9/10	OMIM:250410
10283	CWC27	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:166035
10283	CWC27	HP:0000543	Optic disc pallor	1/1	OMIM:180100
10283	CWC27	HP:0000545	Myopia	-	OMIM:180100
10290	SPEG	HP:0003701	Proximal muscle weakness	1/3	OMIM:615959
10290	SPEG	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:169186
10290	SPEG	HP:0001290	Generalized hypotonia	2/3	OMIM:615959
10290	SPEG	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:169186
10290	SPEG	HP:0100807	Long fingers	HP:0040283	ORPHA:169186
10290	SPEG	HP:0001270	Motor delay	3/3	OMIM:615959
10290	SPEG	HP:0001270	Motor delay	HP:0040282	ORPHA:169186
10290	SPEG	HP:0001284	Areflexia	1/3	OMIM:615959
10290	SPEG	HP:0001284	Areflexia	HP:0040283	ORPHA:169186
10290	SPEG	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:169186
10290	SPEG	HP:0001260	Dysarthria	HP:0040283	ORPHA:169186
10290	SPEG	HP:0002515	Waddling gait	HP:0040282	ORPHA:169186
10290	SPEG	HP:0003803	Type 1 muscle fiber predominance	HP:0040283	ORPHA:169186
10290	SPEG	HP:0001349	Facial diplegia	HP:0040283	ORPHA:169186
10290	SPEG	HP:0001324	Muscle weakness	3/3	OMIM:615959
10290	SPEG	HP:0000007	Autosomal recessive inheritance	-	OMIM:615959
10290	SPEG	HP:0000193	Bifid uvula	HP:0040283	ORPHA:169186
10290	SPEG	HP:0000193	Bifid uvula	1/3	OMIM:615959
10290	SPEG	HP:0000160	Narrow mouth	1/3	OMIM:615959
10290	SPEG	HP:0000160	Narrow mouth	HP:0040283	ORPHA:169186
10290	SPEG	HP:0008936	Axial hypotonia	1/3	OMIM:615959
10290	SPEG	HP:0003327	Axial muscle weakness	-	OMIM:615959
10290	SPEG	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:169186
10290	SPEG	HP:0003323	Progressive muscle weakness	HP:0040282	ORPHA:169186
10290	SPEG	HP:0002093	Respiratory insufficiency	-	OMIM:615959
10290	SPEG	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:169186
10290	SPEG	HP:0003391	Gowers sign	HP:0040282	ORPHA:169186
10290	SPEG	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040283	ORPHA:169186
10290	SPEG	HP:0003593	Infantile onset	3/3	OMIM:615959
10290	SPEG	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:169186
10290	SPEG	HP:0010628	Facial palsy	HP:0040282	ORPHA:169186
10290	SPEG	HP:0003691	Scapular winging	HP:0040283	ORPHA:169186
10290	SPEG	HP:0003687	Centrally nucleated skeletal muscle fibers	HP:0040283	ORPHA:169186
10290	SPEG	HP:0003687	Centrally nucleated skeletal muscle fibers	3/3	OMIM:615959
10290	SPEG	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:169186
10290	SPEG	HP:0000602	Ophthalmoplegia	1/3	OMIM:615959
10290	SPEG	HP:0009046	Difficulty running	HP:0040282	ORPHA:169186
10290	SPEG	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:169186
10290	SPEG	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:169186
10290	SPEG	HP:0040081	Abnormal circulating creatine kinase concentration	0/3	OMIM:615959
10290	SPEG	HP:0003273	Hip contracture	HP:0040283	ORPHA:169186
10290	SPEG	HP:0003273	Hip contracture	1/3	OMIM:615959
10290	SPEG	HP:0000278	Retrognathia	2/3	OMIM:615959
10290	SPEG	HP:0000278	Retrognathia	HP:0040282	ORPHA:169186
10290	SPEG	HP:0000276	Long face	HP:0040283	ORPHA:169186
10290	SPEG	HP:0000218	High palate	3/3	OMIM:615959
10290	SPEG	HP:0000218	High palate	HP:0040282	ORPHA:169186
10290	SPEG	HP:0001618	Dysphonia	HP:0040283	ORPHA:169186
10290	SPEG	HP:0000347	Micrognathia	1/3	OMIM:615959
10290	SPEG	HP:0001644	Dilated cardiomyopathy	2/3	OMIM:615959
10290	SPEG	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:169186
10290	SPEG	HP:0001653	Mitral regurgitation	1/3	OMIM:615959
10290	SPEG	HP:0030319	Weakness of facial musculature	2/3	OMIM:615959
10290	SPEG	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:169186
10290	SPEG	HP:0000411	Protruding ear	HP:0040283	ORPHA:169186
10290	SPEG	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:169186
10290	SPEG	HP:0001761	Pes cavus	HP:0040283	ORPHA:169186
10290	SPEG	HP:0000597	Ophthalmoparesis	HP:0040283	ORPHA:169186
10293	TRAIP	HP:0008633	Agonadism	-	OMIM:616777
10293	TRAIP	HP:0009879	Simplified gyral pattern	2/3	OMIM:616777
10293	TRAIP	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
10293	TRAIP	HP:0001293	Cranial nerve compression	-	OMIM:131300
10293	TRAIP	HP:0001252	Hypotonia	2/7	OMIM:615777
10293	TRAIP	HP:0001249	Intellectual disability	HP:0040281	ORPHA:808
10293	TRAIP	HP:0001249	Intellectual disability	5/7	OMIM:615777
10293	TRAIP	HP:0001263	Global developmental delay	3/3	OMIM:616777
10293	TRAIP	HP:0001263	Global developmental delay	-	OMIM:615777
10293	TRAIP	HP:0008665	Clitoral hypertrophy	-	OMIM:616777
10293	TRAIP	HP:0002515	Waddling gait	54/102	OMIM:131300
10293	TRAIP	HP:0000062	Ambiguous genitalia	-	OMIM:616777
10293	TRAIP	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:808
10293	TRAIP	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:808
10293	TRAIP	HP:0001382	Joint hypermobility	-	OMIM:615777
10293	TRAIP	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:808
10293	TRAIP	HP:0002694	Sclerosis of skull base	-	OMIM:131300
10293	TRAIP	HP:0008897	Postnatal growth retardation	-	OMIM:615777
10293	TRAIP	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:808
10293	TRAIP	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
10293	TRAIP	HP:0001324	Muscle weakness	40/96	OMIM:131300
10293	TRAIP	HP:0000010	Recurrent urinary tract infections	-	OMIM:616777
10293	TRAIP	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
10293	TRAIP	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
10293	TRAIP	HP:0000007	Autosomal recessive inheritance	-	OMIM:616777
10293	TRAIP	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
10293	TRAIP	HP:0002650	Scoliosis	HP:0040283	ORPHA:808
10293	TRAIP	HP:0002650	Scoliosis	12/14	OMIM:131300
10293	TRAIP	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
10293	TRAIP	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
10293	TRAIP	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
10293	TRAIP	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
10293	TRAIP	HP:0000175	Cleft palate	2/7	OMIM:615777
10293	TRAIP	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:808
10293	TRAIP	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:808
10293	TRAIP	HP:0002099	Asthma	1/3	OMIM:616777
10293	TRAIP	HP:0003388	Easy fatigability	36/76	OMIM:131300
10293	TRAIP	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
10293	TRAIP	HP:0002119	Ventriculomegaly	1/3	OMIM:616777
10293	TRAIP	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:808
10293	TRAIP	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:808
10293	TRAIP	HP:0002205	Recurrent respiratory infections	2/3	OMIM:616777
10293	TRAIP	HP:0003510	Severe short stature	7/7	OMIM:615777
10293	TRAIP	HP:0002315	Headache	-	OMIM:131300
10293	TRAIP	HP:0004976	Knee dislocation	6/7	OMIM:615777
10293	TRAIP	HP:0009804	Tooth agenesis	HP:0040282	ORPHA:808
10293	TRAIP	HP:0009803	Short phalanx of finger	-	OMIM:615777
10293	TRAIP	HP:0009763	Limb pain	63/92	OMIM:131300
10293	TRAIP	HP:0004971	Pulmonary artery hypoplasia	HP:0040283	OMIM:616777
10293	TRAIP	HP:0003621	Juvenile onset	-	OMIM:131300
10293	TRAIP	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
10293	TRAIP	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:808
10293	TRAIP	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
10293	TRAIP	HP:6001056	Out-toeing	-	OMIM:131300
10293	TRAIP	HP:0000651	Diplopia	-	OMIM:131300
10293	TRAIP	HP:0001956	Truncal obesity	2/7	OMIM:615777
10293	TRAIP	HP:0001903	Anemia	HP:0040283	OMIM:131300
10293	TRAIP	HP:0010049	Short metacarpal	-	OMIM:615777
10293	TRAIP	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:808
10293	TRAIP	HP:0011342	Mild global developmental delay	HP:0040281	ORPHA:808
10293	TRAIP	HP:0000678	Dental crowding	-	OMIM:615777
10293	TRAIP	HP:0000670	Carious teeth	-	OMIM:131300
10293	TRAIP	HP:0011304	Broad thumb	2/7	OMIM:615777
10293	TRAIP	HP:0000668	Hypodontia	-	OMIM:615777
10293	TRAIP	HP:0000664	Synophrys	-	OMIM:615777
10293	TRAIP	HP:0004322	Short stature	HP:0040281	ORPHA:808
10293	TRAIP	HP:0004322	Short stature	3/3	OMIM:616777
10293	TRAIP	HP:0004326	Cachexia	HP:0040281	ORPHA:808
10293	TRAIP	HP:0004396	Poor appetite	-	OMIM:131300
10293	TRAIP	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
10293	TRAIP	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
10293	TRAIP	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
10293	TRAIP	HP:0003026	Short long bone	7/7	OMIM:615777
10293	TRAIP	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
10293	TRAIP	HP:0000767	Pectus excavatum	2/7	OMIM:615777
10293	TRAIP	HP:0000768	Pectus carinatum	1/7	OMIM:615777
10293	TRAIP	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
10293	TRAIP	HP:0000750	Delayed speech and language development	-	OMIM:615777
10293	TRAIP	HP:0011461	Fetal onset	7/7	OMIM:615777
10293	TRAIP	HP:0011461	Fetal onset	3/3	OMIM:616777
10293	TRAIP	HP:0000774	Narrow chest	2/7	OMIM:615777
10293	TRAIP	HP:0000776	Congenital diaphragmatic hernia	-	OMIM:616777
10293	TRAIP	HP:0030799	Scaphocephaly	2/3	OMIM:616777
10293	TRAIP	HP:0000926	Platyspondyly	1/7	OMIM:615777
10293	TRAIP	HP:0003180	Flat acetabular roof	-	OMIM:615777
10293	TRAIP	HP:0004482	Relative macrocephaly	-	OMIM:615777
10293	TRAIP	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
10293	TRAIP	HP:0000823	Delayed puberty	-	OMIM:131300
10293	TRAIP	HP:0000894	Short clavicles	-	OMIM:615777
10293	TRAIP	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
10293	TRAIP	HP:0000998	Hypertrichosis	1/3	OMIM:616777
10293	TRAIP	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
10293	TRAIP	HP:0000286	Epicanthus	1/7	OMIM:615777
10293	TRAIP	HP:0000280	Coarse facial features	2/7	OMIM:615777
10293	TRAIP	HP:0000275	Narrow face	3/3	OMIM:616777
10293	TRAIP	HP:0000275	Narrow face	HP:0040281	ORPHA:808
10293	TRAIP	HP:0000276	Long face	3/3	OMIM:616777
10293	TRAIP	HP:0000268	Dolichocephaly	2/3	OMIM:616777
10293	TRAIP	HP:0002827	Hip dislocation	3/7	OMIM:615777
10293	TRAIP	HP:0000252	Microcephaly	HP:0040281	ORPHA:808
10293	TRAIP	HP:0000252	Microcephaly	3/3	OMIM:616777
10293	TRAIP	HP:0000252	Microcephaly	-	OMIM:615777
10293	TRAIP	HP:0001561	Polyhydramnios	-	OMIM:616777
10293	TRAIP	HP:0001558	Decreased fetal movement	-	OMIM:616777
10293	TRAIP	HP:0002857	Genu valgum	-	OMIM:131300
10293	TRAIP	HP:0001533	Slender build	-	OMIM:131300
10293	TRAIP	HP:0001518	Small for gestational age	-	OMIM:616777
10293	TRAIP	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:808
10293	TRAIP	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
10293	TRAIP	HP:0001511	Intrauterine growth retardation	3/3	OMIM:616777
10293	TRAIP	HP:0007807	Optic nerve compression	-	OMIM:131300
10293	TRAIP	HP:0000387	Absent earlobe	HP:0040282	ORPHA:808
10293	TRAIP	HP:0012368	Flat face	7/7	OMIM:615777
10293	TRAIP	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
10293	TRAIP	HP:0000363	Abnormal earlobe morphology	HP:0040282	ORPHA:808
10293	TRAIP	HP:0000365	Hearing impairment	10/67	OMIM:131300
10293	TRAIP	HP:0000343	Long philtrum	1/7	OMIM:615777
10293	TRAIP	HP:0011001	Increased bone mineral density	-	OMIM:131300
10293	TRAIP	HP:0000347	Micrognathia	HP:0040281	ORPHA:808
10293	TRAIP	HP:0000347	Micrognathia	3/3	OMIM:616777
10293	TRAIP	HP:0000311	Round face	2/7	OMIM:615777
10293	TRAIP	HP:0001629	Ventricular septal defect	-	OMIM:616777
10293	TRAIP	HP:0002970	Genu varum	-	OMIM:615777
10293	TRAIP	HP:0001631	Atrial septal defect	-	OMIM:616777
10293	TRAIP	HP:0000303	Mandibular prognathia	-	OMIM:131300
10293	TRAIP	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
10293	TRAIP	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:808
10293	TRAIP	HP:0000470	Short neck	1/7	OMIM:615777
10293	TRAIP	HP:0001769	Broad foot	HP:0040283	OMIM:615777
10293	TRAIP	HP:0001763	Pes planus	1/7	OMIM:615777
10293	TRAIP	HP:0000444	Convex nasal ridge	-	OMIM:616777
10293	TRAIP	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:808
10293	TRAIP	HP:0000411	Protruding ear	3/3	OMIM:616777
10293	TRAIP	HP:0001762	Talipes equinovarus	-	OMIM:616777
10293	TRAIP	HP:0001840	Metatarsus adductus	-	OMIM:615777
10293	TRAIP	HP:0001852	Sandal gap	HP:0040281	ORPHA:808
10293	TRAIP	HP:0000520	Proptosis	2/4	OMIM:131300
10293	TRAIP	HP:0000520	Proptosis	7/7	OMIM:615777
10293	TRAIP	HP:0000501	Glaucoma	HP:0040282	ORPHA:808
10293	TRAIP	HP:0000592	Blue sclerae	2/7	OMIM:615777
10293	TRAIP	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
10293	TRAIP	HP:0012514	Lower limb pain	4/4	OMIM:131300
10295	BCKDK	HP:0002487	Hyperkinetic movements	1/20	OMIM:614923
10295	BCKDK	HP:0002463	Language impairment	17/17	OMIM:614923
10295	BCKDK	HP:0500144	Hypoisoleucinemia	25/27	OMIM:614923
10295	BCKDK	HP:0500143	Hypoleucinemia	26/27	OMIM:614923
10295	BCKDK	HP:0500132	Hypovalinemia	26/27	OMIM:614923
10295	BCKDK	HP:0500194	Decreased CSF isoleucine concentration	20/21	OMIM:614923
10295	BCKDK	HP:0500190	Decreased CSF leucine concentration	19/21	OMIM:614923
10295	BCKDK	HP:0010864	Intellectual disability, severe	15/16	OMIM:614923
10295	BCKDK	HP:0500188	Decreased CSF valine concentration	20/21	OMIM:614923
10295	BCKDK	HP:0001271	Polyneuropathy	2/17	OMIM:614923
10295	BCKDK	HP:0001270	Motor delay	26/26	OMIM:614923
10295	BCKDK	HP:0001250	Seizure	11/25	OMIM:614923
10295	BCKDK	HP:0001252	Hypotonia	5/17	OMIM:614923
10295	BCKDK	HP:0001251	Ataxia	1/20	OMIM:614923
10295	BCKDK	HP:0001249	Intellectual disability	22/22	OMIM:614923
10295	BCKDK	HP:0001263	Global developmental delay	27/27	OMIM:614923
10295	BCKDK	HP:0007359	Focal-onset seizure	1/21	OMIM:614923
10295	BCKDK	HP:0001347	Hyperreflexia	7/19	OMIM:614923
10295	BCKDK	HP:0001332	Dystonia	2/10	OMIM:614923
10295	BCKDK	HP:0000007	Autosomal recessive inheritance	-	OMIM:614923
10295	BCKDK	HP:0000126	Hydronephrosis	1/17	OMIM:614923
10295	BCKDK	HP:0002069	Bilateral tonic-clonic seizure	4/19	OMIM:614923
10295	BCKDK	HP:0002123	Generalized myoclonic seizure	1/18	OMIM:614923
10295	BCKDK	HP:0002197	Generalized-onset seizure	9/21	OMIM:614923
10295	BCKDK	HP:0003593	Infantile onset	4/6	OMIM:614923
10295	BCKDK	HP:0002208	Coarse hair	1/17	OMIM:614923
10295	BCKDK	HP:0007018	Attention deficit hyperactivity disorder	4/18	OMIM:614923
10295	BCKDK	HP:0011968	Feeding difficulties	5/20	OMIM:614923
10295	BCKDK	HP:0002376	Developmental regression	5/8	OMIM:614923
10295	BCKDK	HP:0002312	Clumsiness	12/15	OMIM:614923
10295	BCKDK	HP:0001999	Abnormal facial shape	10/21	OMIM:614923
10295	BCKDK	HP:0000752	Hyperactivity	5/21	OMIM:614923
10295	BCKDK	HP:0000718	Aggressive behavior	8/18	OMIM:614923
10295	BCKDK	HP:0000717	Autism	11/19	OMIM:614923
10295	BCKDK	HP:0000711	Restlessness	6/21	OMIM:614923
10295	BCKDK	HP:0000729	Autistic behavior	20/25	OMIM:614923
10295	BCKDK	HP:0011463	Childhood onset	2/6	OMIM:614923
10295	BCKDK	HP:0000958	Dry skin	2/17	OMIM:614923
10295	BCKDK	HP:0000293	Full cheeks	4/21	OMIM:614923
10295	BCKDK	HP:0000253	Progressive microcephaly	17/20	OMIM:614923
10295	BCKDK	HP:0000252	Microcephaly	3/6	OMIM:614923
10295	BCKDK	HP:0000219	Thin upper lip vermilion	4/21	OMIM:614923
10295	BCKDK	HP:0000350	Small forehead	3/21	OMIM:614923
10295	BCKDK	HP:0011182	Interictal epileptiform activity	17/24	OMIM:614923
10295	BCKDK	HP:0011171	Simple febrile seizure	3/3	OMIM:614923
10295	BCKDK	HP:0011147	Typical absence seizure	2/18	OMIM:614923
10295	BCKDK	HP:0005326	Hypoplastic philtrum	2/21	OMIM:614923
10295	BCKDK	HP:0000407	Sensorineural hearing impairment	3/21	OMIM:614923
10295	BCKDK	HP:0011123	Inflammatory abnormality of the skin	3/17	OMIM:614923
10295	BCKDK	HP:0000422	Abnormal nasal bridge morphology	2/21	OMIM:614923
10295	BCKDK	HP:0005484	Secondary microcephaly	16/20	OMIM:614923
10295	BCKDK	HP:0000518	Cataract	1/1	OMIM:614923
10297	APC2	HP:0001176	Large hands	HP:0040283	ORPHA:821
10297	APC2	HP:0001156	Brachydactyly	1/1	OMIM:617169
10297	APC2	HP:0002465	Poor speech	2/2	OMIM:617169
10297	APC2	HP:0002442	Dyscalculia	HP:0040283	ORPHA:821
10297	APC2	HP:0010957	Congenital posterior urethral valve	HP:0040284	ORPHA:821
10297	APC2	HP:0010862	Delayed fine motor development	12/12	OMIM:618677
10297	APC2	HP:0010864	Intellectual disability, severe	12/12	OMIM:618677
10297	APC2	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:821
10297	APC2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
10297	APC2	HP:0001293	Cranial nerve compression	-	OMIM:131300
10297	APC2	HP:0001276	Hypertonia	4/12	OMIM:618677
10297	APC2	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:821
10297	APC2	HP:0001250	Seizure	HP:0040282	ORPHA:821
10297	APC2	HP:0001250	Seizure	1/1	OMIM:617169
10297	APC2	HP:0001252	Hypotonia	HP:0040282	ORPHA:821
10297	APC2	HP:0001252	Hypotonia	10/12	OMIM:618677
10297	APC2	HP:0001252	Hypotonia	2/7	OMIM:615777
10297	APC2	HP:0001249	Intellectual disability	3/3	OMIM:617169
10297	APC2	HP:0001249	Intellectual disability	5/7	OMIM:615777
10297	APC2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:821
10297	APC2	HP:0001263	Global developmental delay	-	OMIM:618677
10297	APC2	HP:0001263	Global developmental delay	1/1	OMIM:617169
10297	APC2	HP:0001263	Global developmental delay	-	OMIM:615777
10297	APC2	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:821
10297	APC2	HP:0032390	Periventricular ribbonlike heterotopia	5/9	OMIM:618677
10297	APC2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:821
10297	APC2	HP:0002521	Hypsarrhythmia	1/9	OMIM:618677
10297	APC2	HP:0002515	Waddling gait	54/102	OMIM:131300
10297	APC2	HP:0002510	Spastic tetraplegia	3/12	OMIM:618677
10297	APC2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:821
10297	APC2	HP:0000098	Tall stature	HP:0040281	ORPHA:821
10297	APC2	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:821
10297	APC2	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:821
10297	APC2	HP:0000073	Ureteral duplication	HP:0040284	ORPHA:821
10297	APC2	HP:0000074	Ureteropelvic junction obstruction	HP:0040284	ORPHA:821
10297	APC2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:821
10297	APC2	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:821
10297	APC2	HP:0001382	Joint hypermobility	-	OMIM:615777
10297	APC2	HP:0000047	Hypospadias	HP:0040284	ORPHA:821
10297	APC2	HP:0000023	Inguinal hernia	HP:0040284	ORPHA:821
10297	APC2	HP:0001363	Craniosynostosis	HP:0040284	ORPHA:821
10297	APC2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
10297	APC2	HP:0000034	Hydrocele testis	HP:0040284	ORPHA:821
10297	APC2	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:821
10297	APC2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
10297	APC2	HP:0002664	Neoplasm	HP:0040284	ORPHA:821
10297	APC2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
10297	APC2	HP:0001324	Muscle weakness	40/96	OMIM:131300
10297	APC2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
10297	APC2	HP:0001339	Lissencephaly	12/12	OMIM:618677
10297	APC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
10297	APC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618677
10297	APC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617169
10297	APC2	HP:0001337	Tremor	HP:0040283	ORPHA:821
10297	APC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
10297	APC2	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:821
10297	APC2	HP:0002650	Scoliosis	HP:0040282	ORPHA:821
10297	APC2	HP:0002650	Scoliosis	12/14	OMIM:131300
10297	APC2	HP:0001321	Cerebellar hypoplasia	2/12	OMIM:618677
10297	APC2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
10297	APC2	HP:0032447	Pulmonary bleb	HP:0040284	ORPHA:821
10297	APC2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
10297	APC2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
10297	APC2	HP:0000189	Narrow palate	1/1	OMIM:617169
10297	APC2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
10297	APC2	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:821
10297	APC2	HP:0000175	Cleft palate	2/7	OMIM:615777
10297	APC2	HP:0000144	Decreased fertility	HP:0040284	ORPHA:821
10297	APC2	HP:0006349	Agenesis of permanent teeth	HP:0040284	ORPHA:821
10297	APC2	HP:0031284	Flushing	HP:0040282	ORPHA:821
10297	APC2	HP:0012110	Hypoplasia of the pons	2/12	OMIM:618677
10297	APC2	HP:0000126	Hydronephrosis	HP:0040284	ORPHA:821
10297	APC2	HP:0000104	Renal agenesis	HP:0040284	ORPHA:821
10297	APC2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:821
10297	APC2	HP:0002019	Constipation	HP:0040282	ORPHA:821
10297	APC2	HP:0004691	2-3 toe syndactyly	HP:0040284	ORPHA:821
10297	APC2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:821
10297	APC2	HP:0002079	Hypoplasia of the corpus callosum	11/12	OMIM:618677
10297	APC2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:821
10297	APC2	HP:0003388	Easy fatigability	36/76	OMIM:131300
10297	APC2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
10297	APC2	HP:0003468	Abnormal vertebral morphology	HP:0040284	ORPHA:821
10297	APC2	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:821
10297	APC2	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:821
10297	APC2	HP:0002119	Ventriculomegaly	12/12	OMIM:618677
10297	APC2	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:821
10297	APC2	HP:0004768	Sparse anterior scalp hair	HP:0040282	ORPHA:821
10297	APC2	HP:0002197	Generalized-onset seizure	7/8	OMIM:618677
10297	APC2	HP:0002194	Delayed gross motor development	12/12	OMIM:618677
10297	APC2	HP:0009592	Astrocytoma	HP:0040284	ORPHA:821
10297	APC2	HP:0003593	Infantile onset	-	OMIM:618677
10297	APC2	HP:0003593	Infantile onset	2/2	OMIM:617169
10297	APC2	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:821
10297	APC2	HP:0002280	Enlarged cisterna magna	HP:0040283	ORPHA:821
10297	APC2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040284	ORPHA:821
10297	APC2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:821
10297	APC2	HP:0003510	Severe short stature	7/7	OMIM:615777
10297	APC2	HP:0002389	Cavum septum pellucidum	HP:0040283	ORPHA:821
10297	APC2	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:821
10297	APC2	HP:0002392	EEG with polyspike wave complexes	1/1	OMIM:617169
10297	APC2	HP:0002365	Hypoplasia of the brainstem	2/12	OMIM:618677
10297	APC2	HP:0001028	Hemangioma	HP:0040284	ORPHA:821
10297	APC2	HP:0002370	Poor coordination	HP:0040283	ORPHA:821
10297	APC2	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:821
10297	APC2	HP:0001010	Hypopigmentation of the skin	HP:0040284	ORPHA:821
10297	APC2	HP:0002315	Headache	-	OMIM:131300
10297	APC2	HP:0004976	Knee dislocation	6/7	OMIM:615777
10297	APC2	HP:0009803	Short phalanx of finger	-	OMIM:615777
10297	APC2	HP:0009797	Cholesteatoma	HP:0040284	ORPHA:821
10297	APC2	HP:0010741	Pedal edema	HP:0040283	ORPHA:821
10297	APC2	HP:0009763	Limb pain	63/92	OMIM:131300
10297	APC2	HP:0003621	Juvenile onset	-	OMIM:131300
10297	APC2	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:821
10297	APC2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
10297	APC2	HP:0006891	Thick cerebral cortex	-	OMIM:618677
10297	APC2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
10297	APC2	HP:0000639	Nystagmus	HP:0040284	ORPHA:821
10297	APC2	HP:6001056	Out-toeing	-	OMIM:131300
10297	APC2	HP:0000651	Diplopia	-	OMIM:131300
10297	APC2	HP:0001956	Truncal obesity	2/7	OMIM:615777
10297	APC2	HP:0001903	Anemia	HP:0040283	OMIM:131300
10297	APC2	HP:0010049	Short metacarpal	-	OMIM:615777
10297	APC2	HP:0000696	Delayed eruption of permanent teeth	HP:0040284	ORPHA:821
10297	APC2	HP:0000678	Dental crowding	-	OMIM:615777
10297	APC2	HP:0000670	Carious teeth	-	OMIM:131300
10297	APC2	HP:0011304	Broad thumb	2/7	OMIM:615777
10297	APC2	HP:0000668	Hypodontia	HP:0040284	ORPHA:821
10297	APC2	HP:0000668	Hypodontia	-	OMIM:615777
10297	APC2	HP:0001998	Neonatal hypoglycemia	HP:0040284	ORPHA:821
10297	APC2	HP:0000664	Synophrys	-	OMIM:615777
10297	APC2	HP:0005617	Bilateral camptodactyly	HP:0040284	ORPHA:821
10297	APC2	HP:0005616	Accelerated skeletal maturation	HP:0040282	ORPHA:821
10297	APC2	HP:0003072	Hypercalcemia	HP:0040284	ORPHA:821
10297	APC2	HP:0004396	Poor appetite	-	OMIM:131300
10297	APC2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
10297	APC2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
10297	APC2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
10297	APC2	HP:0003006	Neuroblastoma	HP:0040284	ORPHA:821
10297	APC2	HP:0003026	Short long bone	7/7	OMIM:615777
10297	APC2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
10297	APC2	HP:0400000	Tall chin	HP:0040282	ORPHA:821
10297	APC2	HP:0000752	Hyperactivity	2/2	OMIM:617169
10297	APC2	HP:0000767	Pectus excavatum	HP:0040284	ORPHA:821
10297	APC2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
10297	APC2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
10297	APC2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
10297	APC2	HP:0000739	Anxiety	HP:0040283	ORPHA:821
10297	APC2	HP:0000750	Delayed speech and language development	11/11	OMIM:618677
10297	APC2	HP:0000750	Delayed speech and language development	2/2	OMIM:617169
10297	APC2	HP:0000750	Delayed speech and language development	-	OMIM:615777
10297	APC2	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:821
10297	APC2	HP:0000729	Autistic behavior	HP:0040283	ORPHA:821
10297	APC2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:821
10297	APC2	HP:0011463	Childhood onset	1/1	OMIM:617169
10297	APC2	HP:0011461	Fetal onset	7/7	OMIM:615777
10297	APC2	HP:0012771	Increased arm span	HP:0040281	ORPHA:821
10297	APC2	HP:0000774	Narrow chest	2/7	OMIM:615777
10297	APC2	HP:0030736	Sacrococcygeal teratoma	HP:0040284	ORPHA:821
10297	APC2	HP:0000926	Platyspondyly	1/7	OMIM:615777
10297	APC2	HP:0003180	Flat acetabular roof	-	OMIM:615777
10297	APC2	HP:0004482	Relative macrocephaly	-	OMIM:615777
10297	APC2	HP:0004482	Relative macrocephaly	2/2	OMIM:617169
10297	APC2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
10297	APC2	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:821
10297	APC2	HP:0000823	Delayed puberty	-	OMIM:131300
10297	APC2	HP:0000894	Short clavicles	-	OMIM:615777
10297	APC2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
10297	APC2	HP:0003273	Hip contracture	HP:0040284	ORPHA:821
10297	APC2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
10297	APC2	HP:0000953	Hyperpigmentation of the skin	HP:0040284	ORPHA:821
10297	APC2	HP:0040194	Increased head circumference	HP:0040282	ORPHA:821
10297	APC2	HP:0000286	Epicanthus	1/7	OMIM:615777
10297	APC2	HP:0000280	Coarse facial features	HP:0040281	ORPHA:821
10297	APC2	HP:0000280	Coarse facial features	2/7	OMIM:615777
10297	APC2	HP:0000256	Macrocephaly	1/1	OMIM:617169
10297	APC2	HP:0000256	Macrocephaly	HP:0040283	ORPHA:821
10297	APC2	HP:0000275	Narrow face	HP:0040282	ORPHA:821
10297	APC2	HP:0000276	Long face	HP:0040282	ORPHA:821
10297	APC2	HP:0000276	Long face	2/2	OMIM:617169
10297	APC2	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:821
10297	APC2	HP:0000268	Dolichocephaly	1/1	OMIM:617169
10297	APC2	HP:0006466	Ankle flexion contracture	HP:0040284	ORPHA:821
10297	APC2	HP:0002827	Hip dislocation	3/7	OMIM:615777
10297	APC2	HP:0002808	Kyphosis	HP:0040283	ORPHA:821
10297	APC2	HP:0000252	Microcephaly	-	OMIM:615777
10297	APC2	HP:0002857	Genu valgum	-	OMIM:131300
10297	APC2	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:821
10297	APC2	HP:0001533	Slender build	-	OMIM:131300
10297	APC2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
10297	APC2	HP:0007807	Optic nerve compression	-	OMIM:131300
10297	APC2	HP:0012368	Flat face	7/7	OMIM:615777
10297	APC2	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:821
10297	APC2	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:821
10297	APC2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
10297	APC2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:821
10297	APC2	HP:0000365	Hearing impairment	10/67	OMIM:131300
10297	APC2	HP:0000343	Long philtrum	1/7	OMIM:615777
10297	APC2	HP:0011001	Increased bone mineral density	-	OMIM:131300
10297	APC2	HP:0032794	Myoclonic seizure	7/8	OMIM:618677
10297	APC2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:821
10297	APC2	HP:0000311	Round face	2/7	OMIM:615777
10297	APC2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:821
10297	APC2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:821
10297	APC2	HP:0002970	Genu varum	-	OMIM:615777
10297	APC2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:821
10297	APC2	HP:0000303	Mandibular prognathia	-	OMIM:131300
10297	APC2	HP:0000303	Mandibular prognathia	2/2	OMIM:617169
10297	APC2	HP:0000405	Conductive hearing impairment	HP:0040284	ORPHA:821
10297	APC2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
10297	APC2	HP:0000483	Astigmatism	HP:0040282	ORPHA:821
10297	APC2	HP:0000486	Strabismus	HP:0040284	ORPHA:821
10297	APC2	HP:0012469	Infantile spasms	1/8	OMIM:618677
10297	APC2	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:821
10297	APC2	HP:0001792	Small nail	HP:0040284	ORPHA:821
10297	APC2	HP:0000470	Short neck	1/7	OMIM:615777
10297	APC2	HP:0012434	Delayed early-childhood social milestone development	12/12	OMIM:618677
10297	APC2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
10297	APC2	HP:0001763	Pes planus	HP:0040283	ORPHA:821
10297	APC2	HP:0001763	Pes planus	1/7	OMIM:615777
10297	APC2	HP:0000448	Prominent nose	2/2	OMIM:617169
10297	APC2	HP:0001741	Phimosis	HP:0040284	ORPHA:821
10297	APC2	HP:0001762	Talipes equinovarus	HP:0040284	ORPHA:821
10297	APC2	HP:0000431	Wide nasal bridge	1/1	OMIM:617169
10297	APC2	HP:0006721	Acute lymphoblastic leukemia	HP:0040284	ORPHA:821
10297	APC2	HP:0000518	Cataract	HP:0040284	ORPHA:821
10297	APC2	HP:0001840	Metatarsus adductus	-	OMIM:615777
10297	APC2	HP:0000520	Proptosis	2/4	OMIM:131300
10297	APC2	HP:0000520	Proptosis	7/7	OMIM:615777
10297	APC2	HP:0030357	Small cell lung carcinoma	HP:0040284	ORPHA:821
10297	APC2	HP:0000592	Blue sclerae	2/7	OMIM:615777
10297	APC2	HP:0011220	Prominent forehead	HP:0040282	ORPHA:821
10297	APC2	HP:0000540	Hypermetropia	HP:0040284	ORPHA:821
10297	APC2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
10297	APC2	HP:0012514	Lower limb pain	4/4	OMIM:131300
10297	APC2	HP:0000545	Myopia	HP:0040284	ORPHA:821
10299	MARCHF6	HP:0010852	EEG with photoparoxysmal response	-	OMIM:613608
10299	MARCHF6	HP:0001288	Gait disturbance	-	OMIM:613608
10299	MARCHF6	HP:0001249	Intellectual disability	HP:0040283	ORPHA:86814
10299	MARCHF6	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:86814
10299	MARCHF6	HP:0007359	Focal-onset seizure	-	OMIM:613608
10299	MARCHF6	HP:0001351	Jerk-locked premyoclonus spikes	-	OMIM:613608
10299	MARCHF6	HP:0001340	Enhancement of the C-reflex	-	OMIM:613608
10299	MARCHF6	HP:0001337	Tremor	8/10	OMIM:613608
10299	MARCHF6	HP:0000006	Autosomal dominant inheritance	-	OMIM:613608
10299	MARCHF6	HP:0001336	Myoclonus	HP:0040281	ORPHA:86814
10299	MARCHF6	HP:0001336	Myoclonus	-	OMIM:613608
10299	MARCHF6	HP:0001312	Giant somatosensory evoked potentials	-	OMIM:613608
10299	MARCHF6	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:613608
10299	MARCHF6	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:86814
10299	MARCHF6	HP:0002197	Generalized-onset seizure	HP:0040282	ORPHA:86814
10299	MARCHF6	HP:0003596	Middle age onset	1/10	OMIM:613608
10299	MARCHF6	HP:0002378	Hand tremor	HP:0040281	ORPHA:86814
10299	MARCHF6	HP:0002353	EEG abnormality	HP:0040281	ORPHA:86814
10299	MARCHF6	HP:0003680	Nonprogressive	-	OMIM:613608
10299	MARCHF6	HP:0002315	Headache	HP:0040283	ORPHA:86814
10299	MARCHF6	HP:0003621	Juvenile onset	2/10	OMIM:613608
10299	MARCHF6	HP:0011462	Young adult onset	7/10	OMIM:613608
10300	KATNB1	HP:0001182	Tapered finger	1/5	OMIM:616212
10300	KATNB1	HP:0001181	Adducted thumb	HP:0040283	ORPHA:89844
10300	KATNB1	HP:0009879	Simplified gyral pattern	4/4	OMIM:616212
10300	KATNB1	HP:0001272	Cerebellar atrophy	2/4	OMIM:616212
10300	KATNB1	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:89844
10300	KATNB1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:89844
10300	KATNB1	HP:0001270	Motor delay	4/4	OMIM:616212
10300	KATNB1	HP:0001250	Seizure	HP:0040282	ORPHA:89844
10300	KATNB1	HP:0001250	Seizure	4/4	OMIM:616212
10300	KATNB1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:89844
10300	KATNB1	HP:0001263	Global developmental delay	4/4	OMIM:616212
10300	KATNB1	HP:0001257	Spasticity	2/5	OMIM:616212
10300	KATNB1	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:89844
10300	KATNB1	HP:0002509	Limb hypertonia	1/4	OMIM:616212
10300	KATNB1	HP:0003808	Abnormal muscle tone	HP:0040282	ORPHA:89844
10300	KATNB1	HP:0002683	Abnormal calvaria morphology	HP:0040282	ORPHA:89844
10300	KATNB1	HP:0001347	Hyperreflexia	4/4	OMIM:616212
10300	KATNB1	HP:0001339	Lissencephaly	-	OMIM:616212
10300	KATNB1	HP:0001338	Partial agenesis of the corpus callosum	4/4	OMIM:616212
10300	KATNB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616212
10300	KATNB1	HP:0001302	Pachygyria	2/4	OMIM:616212
10300	KATNB1	HP:0000154	Wide mouth	1/5	OMIM:616212
10300	KATNB1	HP:0006270	Hypoplastic spleen	HP:0040283	ORPHA:89844
10300	KATNB1	HP:0002015	Dysphagia	HP:0040283	ORPHA:89844
10300	KATNB1	HP:0002098	Respiratory distress	HP:0040283	ORPHA:89844
10300	KATNB1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:616212
10300	KATNB1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:89844
10300	KATNB1	HP:0002119	Ventriculomegaly	4/4	OMIM:616212
10300	KATNB1	HP:0002126	Polymicrogyria	-	OMIM:616212
10300	KATNB1	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:89844
10300	KATNB1	HP:0003577	Congenital onset	5/5	OMIM:616212
10300	KATNB1	HP:0002280	Enlarged cisterna magna	2/4	OMIM:616212
10300	KATNB1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:89844
10300	KATNB1	HP:0007165	Periventricular heterotopia	1/4	OMIM:616212
10300	KATNB1	HP:0006818	4-layered lissencephaly	HP:0040281	ORPHA:89844
10300	KATNB1	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:89844
10300	KATNB1	HP:0000687	Widely spaced teeth	1/5	OMIM:616212
10300	KATNB1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:89844
10300	KATNB1	HP:0000664	Synophrys	2/5	OMIM:616212
10300	KATNB1	HP:0012736	Profound global developmental delay	HP:0040282	ORPHA:89844
10300	KATNB1	HP:0011451	Primary microcephaly	HP:0040281	ORPHA:89844
10300	KATNB1	HP:0045028	Microlissencephaly	-	OMIM:616212
10300	KATNB1	HP:0045028	Microlissencephaly	HP:0040281	ORPHA:89844
10300	KATNB1	HP:0000954	Single transverse palmar crease	1/5	OMIM:616212
10300	KATNB1	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:89844
10300	KATNB1	HP:0000269	Prominent occiput	HP:0040282	ORPHA:89844
10300	KATNB1	HP:0000252	Microcephaly	5/5	OMIM:616212
10300	KATNB1	HP:0000219	Thin upper lip vermilion	1/5	OMIM:616212
10300	KATNB1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:89844
10300	KATNB1	HP:0007874	Almond-shaped palpebral fissure	1/5	OMIM:616212
10300	KATNB1	HP:0000369	Low-set ears	HP:0040282	ORPHA:89844
10300	KATNB1	HP:0000341	Narrow forehead	HP:0040282	ORPHA:89844
10300	KATNB1	HP:0000340	Sloping forehead	1/5	OMIM:616212
10300	KATNB1	HP:0000340	Sloping forehead	HP:0040282	ORPHA:89844
10300	KATNB1	HP:0000350	Small forehead	HP:0040282	ORPHA:89844
10300	KATNB1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:89844
10300	KATNB1	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:89844
10300	KATNB1	HP:0000308	Microretrognathia	HP:0040282	ORPHA:89844
10300	KATNB1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:89844
10300	KATNB1	HP:0006610	Wide intermamillary distance	1/5	OMIM:616212
10300	KATNB1	HP:0000400	Macrotia	2/5	OMIM:616212
10300	KATNB1	HP:0000479	Abnormal retinal morphology	HP:0040283	ORPHA:89844
10300	KATNB1	HP:0000463	Anteverted nares	1/5	OMIM:616212
10300	KATNB1	HP:0000445	Wide nose	HP:0040282	ORPHA:89844
10300	KATNB1	HP:0000414	Bulbous nose	1/5	OMIM:616212
10300	KATNB1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:89844
10300	KATNB1	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:89844
10309	CCNO	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
10309	CCNO	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
10309	CCNO	HP:0001217	Clubbing	HP:0040283	ORPHA:244
10309	CCNO	HP:0000007	Autosomal recessive inheritance	-	OMIM:615872
10309	CCNO	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
10309	CCNO	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
10309	CCNO	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
10309	CCNO	HP:0031245	Productive cough	HP:0040282	ORPHA:244
10309	CCNO	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
10309	CCNO	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
10309	CCNO	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
10309	CCNO	HP:0002110	Bronchiectasis	15/15	OMIM:615872
10309	CCNO	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
10309	CCNO	HP:0008222	Female infertility	HP:0040283	ORPHA:244
10309	CCNO	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
10309	CCNO	HP:0002205	Recurrent respiratory infections	15/15	OMIM:615872
10309	CCNO	HP:0100750	Atelectasis	-	OMIM:615872
10309	CCNO	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
10309	CCNO	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
10309	CCNO	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
10309	CCNO	HP:0003676	Progressive	-	OMIM:615872
10309	CCNO	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
10309	CCNO	HP:0004313	Decreased circulating immunoglobulin concentration	0/8	OMIM:615872
10309	CCNO	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
10309	CCNO	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
10309	CCNO	HP:0011463	Childhood onset	-	OMIM:615872
10309	CCNO	HP:0000789	Infertility	1/1	OMIM:615872
10309	CCNO	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
10309	CCNO	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
10309	CCNO	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
10309	CCNO	HP:0030828	Wheezing	HP:0040283	ORPHA:244
10309	CCNO	HP:0003251	Male infertility	HP:0040282	ORPHA:244
10309	CCNO	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
10309	CCNO	HP:0033036	Decreased nasal nitric oxide	6/6	OMIM:615872
10309	CCNO	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
10309	CCNO	HP:0012265	Ciliary dyskinesia	-	OMIM:615872
10309	CCNO	HP:0012236	Elevated sweat chloride	0/9	OMIM:615872
10309	CCNO	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
10309	CCNO	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
10309	CCNO	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
10309	CCNO	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
10309	CCNO	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
10309	CCNO	HP:0001696	Situs inversus totalis	0/15	OMIM:615872
10309	CCNO	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
10309	CCNO	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
10309	CCNO	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
10309	CCNO	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
10309	CCNO	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
10309	CCNO	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
10309	CCNO	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
10309	CCNO	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
10309	CCNO	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
10309	CCNO	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
10309	CCNO	HP:0001746	Asplenia	HP:0040284	ORPHA:244
10309	CCNO	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
10309	CCNO	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
10309	CCNO	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
10309	CCNO	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
10309	CCNO	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
10312	TCIRG1	HP:0007209	Facial paralysis	-	OMIM:259700
10312	TCIRG1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
10312	TCIRG1	HP:0001293	Cranial nerve compression	HP:0040284	ORPHA:210110
10312	TCIRG1	HP:0001293	Cranial nerve compression	-	OMIM:131300
10312	TCIRG1	HP:0001291	Abnormal cranial nerve morphology	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0001281	Tetany	-	OMIM:259700
10312	TCIRG1	HP:0001250	Seizure	-	OMIM:259700
10312	TCIRG1	HP:0001252	Hypotonia	2/7	OMIM:615777
10312	TCIRG1	HP:0001249	Intellectual disability	5/7	OMIM:615777
10312	TCIRG1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0001263	Global developmental delay	-	OMIM:615777
10312	TCIRG1	HP:0031035	Chronic infection	HP:0040284	ORPHA:210110
10312	TCIRG1	HP:0002515	Waddling gait	54/102	OMIM:131300
10312	TCIRG1	HP:0002514	Cerebral calcification	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0001382	Joint hypermobility	-	OMIM:615777
10312	TCIRG1	HP:0001363	Craniosynostosis	1/1	OMIM:259700
10312	TCIRG1	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
10312	TCIRG1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
10312	TCIRG1	HP:0002659	Increased susceptibility to fractures	HP:0040282	ORPHA:210110
10312	TCIRG1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
10312	TCIRG1	HP:0001324	Muscle weakness	40/96	OMIM:131300
10312	TCIRG1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
10312	TCIRG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:259700
10312	TCIRG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
10312	TCIRG1	HP:0001337	Tremor	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
10312	TCIRG1	HP:0002653	Bone pain	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0002650	Scoliosis	12/14	OMIM:131300
10312	TCIRG1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
10312	TCIRG1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
10312	TCIRG1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
10312	TCIRG1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
10312	TCIRG1	HP:0000164	Abnormality of the dentition	HP:0040284	ORPHA:210110
10312	TCIRG1	HP:0025452	Pyoderma gangrenosum	HP:0040283	ORPHA:486
10312	TCIRG1	HP:0000175	Cleft palate	2/7	OMIM:615777
10312	TCIRG1	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:259700
10312	TCIRG1	HP:0025439	Pharyngitis	HP:0040282	ORPHA:486
10312	TCIRG1	HP:0000155	Oral ulcer	HP:0040282	ORPHA:486
10312	TCIRG1	HP:0006323	Premature loss of primary teeth	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0410018	Recurrent ear infections	HP:0040282	ORPHA:486
10312	TCIRG1	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:210110
10312	TCIRG1	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0002756	Pathologic fracture	-	OMIM:259700
10312	TCIRG1	HP:0002754	Osteomyelitis	HP:0040284	ORPHA:210110
10312	TCIRG1	HP:0002754	Osteomyelitis	-	OMIM:259700
10312	TCIRG1	HP:0001433	Hepatosplenomegaly	HP:0040284	ORPHA:210110
10312	TCIRG1	HP:0002718	Recurrent bacterial infections	HP:0040281	ORPHA:486
10312	TCIRG1	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:486
10312	TCIRG1	HP:0002014	Diarrhea	HP:0040282	ORPHA:486
10312	TCIRG1	HP:0002007	Frontal bossing	-	OMIM:259700
10312	TCIRG1	HP:0004618	Sandwich appearance of vertebral bodies	-	OMIM:259700
10312	TCIRG1	HP:0004618	Sandwich appearance of vertebral bodies	HP:0040282	ORPHA:210110
10312	TCIRG1	HP:0003301	Irregular vertebral endplates	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:667
10312	TCIRG1	HP:0002090	Pneumonia	HP:0040282	ORPHA:486
10312	TCIRG1	HP:0003388	Easy fatigability	36/76	OMIM:131300
10312	TCIRG1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
10312	TCIRG1	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0002148	Hypophosphatemia	HP:0040283	ORPHA:667
10312	TCIRG1	HP:0003453	Antineutrophil antibody positivity	HP:0040283	ORPHA:486
10312	TCIRG1	HP:0004798	Recurrent infection of the gastrointestinal tract	HP:0040282	ORPHA:486
10312	TCIRG1	HP:0002104	Apnea	HP:0040283	ORPHA:667
10312	TCIRG1	HP:0003418	Back pain	HP:0040282	ORPHA:210110
10312	TCIRG1	HP:0010543	Opsoclonus	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0003593	Infantile onset	5/5	OMIM:259700
10312	TCIRG1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0002240	Hepatomegaly	5/5	OMIM:259700
10312	TCIRG1	HP:0002257	Chronic rhinitis	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0010719	Abnormality of hair texture	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0010628	Facial palsy	-	OMIM:259700
10312	TCIRG1	HP:0003510	Severe short stature	7/7	OMIM:615777
10312	TCIRG1	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:486
10312	TCIRG1	HP:0001028	Hemangioma	HP:0040283	ORPHA:486
10312	TCIRG1	HP:0002376	Developmental regression	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0002315	Headache	-	OMIM:131300
10312	TCIRG1	HP:0004976	Knee dislocation	6/7	OMIM:615777
10312	TCIRG1	HP:0004975	Erlenmeyer flask deformity of the femurs	HP:0040282	ORPHA:210110
10312	TCIRG1	HP:0100658	Cellulitis	HP:0040283	ORPHA:486
10312	TCIRG1	HP:0100670	Coarse metaphyseal trabecularization	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0009803	Short phalanx of finger	-	OMIM:615777
10312	TCIRG1	HP:0008479	Hypoplastic vertebral bodies	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0009763	Limb pain	63/92	OMIM:131300
10312	TCIRG1	HP:0003621	Juvenile onset	-	OMIM:131300
10312	TCIRG1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
10312	TCIRG1	HP:0031846	Femur fracture	1/1	OMIM:259700
10312	TCIRG1	HP:0006824	Cranial nerve paralysis	1/5	OMIM:259700
10312	TCIRG1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:667
10312	TCIRG1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
10312	TCIRG1	HP:0000639	Nystagmus	-	OMIM:259700
10312	TCIRG1	HP:0000639	Nystagmus	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0000639	Nystagmus	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:6001056	Out-toeing	-	OMIM:131300
10312	TCIRG1	HP:0000651	Diplopia	-	OMIM:131300
10312	TCIRG1	HP:0000649	Abnormality of visual evoked potentials	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0000648	Optic atrophy	1/5	OMIM:259700
10312	TCIRG1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0000618	Blindness	-	OMIM:259700
10312	TCIRG1	HP:0001945	Fever	HP:0040282	ORPHA:486
10312	TCIRG1	HP:0001956	Truncal obesity	2/7	OMIM:615777
10312	TCIRG1	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0001909	Leukemia	HP:0040283	ORPHA:486
10312	TCIRG1	HP:0001903	Anemia	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0001903	Anemia	3/6	OMIM:259700
10312	TCIRG1	HP:0001903	Anemia	HP:0040283	OMIM:131300
10312	TCIRG1	HP:0001903	Anemia	HP:0040283	ORPHA:210110
10312	TCIRG1	HP:0001915	Aplastic anemia	HP:0040283	ORPHA:486
10312	TCIRG1	HP:0010049	Short metacarpal	-	OMIM:615777
10312	TCIRG1	HP:0000682	Abnormal dental enamel morphology	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0000678	Dental crowding	-	OMIM:615777
10312	TCIRG1	HP:0000689	Dental malocclusion	HP:0040284	ORPHA:210110
10312	TCIRG1	HP:0000670	Carious teeth	-	OMIM:259700
10312	TCIRG1	HP:0000670	Carious teeth	-	OMIM:131300
10312	TCIRG1	HP:0011304	Broad thumb	2/7	OMIM:615777
10312	TCIRG1	HP:0000668	Hypodontia	-	OMIM:615777
10312	TCIRG1	HP:0000664	Synophrys	-	OMIM:615777
10312	TCIRG1	HP:0004322	Short stature	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0005652	Cortical sclerosis	HP:0040282	ORPHA:210110
10312	TCIRG1	HP:0004396	Poor appetite	-	OMIM:131300
10312	TCIRG1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
10312	TCIRG1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
10312	TCIRG1	HP:0004370	Abnormality of temperature regulation	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0003015	Flared metaphysis	-	OMIM:259700
10312	TCIRG1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
10312	TCIRG1	HP:0003026	Short long bone	7/7	OMIM:615777
10312	TCIRG1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
10312	TCIRG1	HP:0004349	Reduced bone mineral density	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0004348	Abnormality of bone mineral density	HP:0040281	ORPHA:210110
10312	TCIRG1	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
10312	TCIRG1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
10312	TCIRG1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
10312	TCIRG1	HP:0000750	Delayed speech and language development	-	OMIM:615777
10312	TCIRG1	HP:0000704	Periodontitis	HP:0040282	ORPHA:486
10312	TCIRG1	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:210110
10312	TCIRG1	HP:0011461	Fetal onset	7/7	OMIM:615777
10312	TCIRG1	HP:0000774	Narrow chest	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0000774	Narrow chest	2/7	OMIM:615777
10312	TCIRG1	HP:0004415	Pulmonary artery stenosis	HP:0040283	ORPHA:667
10312	TCIRG1	HP:0005746	Osteosclerosis of the base of the skull	HP:0040282	ORPHA:210110
10312	TCIRG1	HP:0004429	Recurrent viral infections	HP:0040281	ORPHA:486
10312	TCIRG1	HP:0000926	Platyspondyly	1/7	OMIM:615777
10312	TCIRG1	HP:0000926	Platyspondyly	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0003180	Flat acetabular roof	-	OMIM:615777
10312	TCIRG1	HP:0003155	Elevated circulating alkaline phosphatase concentration	11/11	OMIM:259700
10312	TCIRG1	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040283	ORPHA:210110
10312	TCIRG1	HP:0004482	Relative macrocephaly	-	OMIM:615777
10312	TCIRG1	HP:0004493	Craniofacial hyperostosis	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
10312	TCIRG1	HP:0005789	Generalized osteosclerosis	HP:0040282	ORPHA:210110
10312	TCIRG1	HP:0000823	Delayed puberty	-	OMIM:131300
10312	TCIRG1	HP:0000894	Short clavicles	-	OMIM:615777
10312	TCIRG1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
10312	TCIRG1	HP:0000980	Pallor	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:667
10312	TCIRG1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
10312	TCIRG1	HP:0000938	Osteopenia	HP:0040283	ORPHA:486
10312	TCIRG1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1782
10312	TCIRG1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0000286	Epicanthus	1/7	OMIM:615777
10312	TCIRG1	HP:0000280	Coarse facial features	2/7	OMIM:615777
10312	TCIRG1	HP:0000256	Macrocephaly	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0000256	Macrocephaly	2/6	OMIM:259700
10312	TCIRG1	HP:0000256	Macrocephaly	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0002812	Coxa vara	-	OMIM:259700
10312	TCIRG1	HP:0002827	Hip dislocation	3/7	OMIM:615777
10312	TCIRG1	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0000238	Hydrocephalus	1/5	OMIM:259700
10312	TCIRG1	HP:0000252	Microcephaly	-	OMIM:615777
10312	TCIRG1	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:486
10312	TCIRG1	HP:0000230	Gingivitis	HP:0040282	ORPHA:486
10312	TCIRG1	HP:0002857	Genu valgum	-	OMIM:131300
10312	TCIRG1	HP:0001533	Slender build	-	OMIM:131300
10312	TCIRG1	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:486
10312	TCIRG1	HP:0001508	Failure to thrive	-	OMIM:259700
10312	TCIRG1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
10312	TCIRG1	HP:0001510	Growth delay	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0007807	Optic nerve compression	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0007807	Optic nerve compression	-	OMIM:131300
10312	TCIRG1	HP:0012384	Rhinitis	HP:0040282	ORPHA:486
10312	TCIRG1	HP:0012368	Flat face	7/7	OMIM:615777
10312	TCIRG1	HP:0000388	Otitis media	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
10312	TCIRG1	HP:0002901	Hypocalcemia	3/6	OMIM:259700
10312	TCIRG1	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:667
10312	TCIRG1	HP:0002901	Hypocalcemia	-	ORPHA:210110
10312	TCIRG1	HP:0006480	Premature loss of teeth	HP:0040283	ORPHA:486
10312	TCIRG1	HP:0006482	Abnormal dental morphology	HP:0040284	ORPHA:210110
10312	TCIRG1	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0000365	Hearing impairment	-	OMIM:259700
10312	TCIRG1	HP:0000365	Hearing impairment	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0000365	Hearing impairment	10/67	OMIM:131300
10312	TCIRG1	HP:0000365	Hearing impairment	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0000343	Long philtrum	1/7	OMIM:615777
10312	TCIRG1	HP:0011002	Osteopetrosis	11/11	OMIM:259700
10312	TCIRG1	HP:0011002	Osteopetrosis	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0011001	Increased bone mineral density	1/1	OMIM:259700
10312	TCIRG1	HP:0011001	Increased bone mineral density	-	OMIM:131300
10312	TCIRG1	HP:0011001	Increased bone mineral density	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0012311	Increased total monocyte count	HP:0040282	ORPHA:486
10312	TCIRG1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0000311	Round face	2/7	OMIM:615777
10312	TCIRG1	HP:0001629	Ventricular septal defect	HP:0040281	ORPHA:1782
10312	TCIRG1	HP:0001641	Abnormal pulmonary valve morphology	HP:0040283	ORPHA:667
10312	TCIRG1	HP:0002970	Genu varum	-	OMIM:615777
10312	TCIRG1	HP:0000303	Mandibular prognathia	-	OMIM:131300
10312	TCIRG1	HP:0007958	Optic atrophy from cranial nerve compression	HP:0040284	ORPHA:210110
10312	TCIRG1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
10312	TCIRG1	HP:0000470	Short neck	1/7	OMIM:615777
10312	TCIRG1	HP:0011107	Recurrent aphthous stomatitis	HP:0040282	ORPHA:486
10312	TCIRG1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
10312	TCIRG1	HP:0001763	Pes planus	1/7	OMIM:615777
10312	TCIRG1	HP:0001744	Splenomegaly	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0001744	Splenomegaly	5/5	OMIM:259700
10312	TCIRG1	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:486
10312	TCIRG1	HP:0006721	Acute lymphoblastic leukemia	HP:0040283	ORPHA:486
10312	TCIRG1	HP:0005450	Calvarial osteosclerosis	1/1	OMIM:259700
10312	TCIRG1	HP:0001840	Metatarsus adductus	-	OMIM:615777
10312	TCIRG1	HP:0000520	Proptosis	2/4	OMIM:131300
10312	TCIRG1	HP:0000520	Proptosis	7/7	OMIM:615777
10312	TCIRG1	HP:0000505	Visual impairment	HP:0040281	ORPHA:667
10312	TCIRG1	HP:0000505	Visual impairment	2/5	OMIM:259700
10312	TCIRG1	HP:0000505	Visual impairment	HP:0040284	ORPHA:210110
10312	TCIRG1	HP:0000597	Ophthalmoparesis	-	OMIM:259700
10312	TCIRG1	HP:0000592	Blue sclerae	2/7	OMIM:615777
10312	TCIRG1	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:486
10312	TCIRG1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
10312	TCIRG1	HP:0001880	Increased total eosinophil count	HP:0040283	ORPHA:486
10312	TCIRG1	HP:0012514	Lower limb pain	4/4	OMIM:131300
10312	TCIRG1	HP:0001873	Thrombocytopenia	2/5	OMIM:259700
10312	TCIRG1	HP:0001873	Thrombocytopenia	-	ORPHA:210110
10312	TCIRG1	HP:0001876	Pancytopenia	-	OMIM:259700
10312	TCIRG1	HP:0001875	Decreased total neutrophil count	HP:0040280	ORPHA:486
10318	TNIP1	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
10318	TNIP1	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
10318	TNIP1	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
10318	TNIP1	HP:0001250	Seizure	HP:0040283	ORPHA:536
10318	TNIP1	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
10318	TNIP1	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
10318	TNIP1	HP:0001369	Arthritis	HP:0040282	ORPHA:536
10318	TNIP1	HP:0033834	Malaise	HP:0040281	ORPHA:536
10318	TNIP1	HP:0012085	Pyuria	HP:0040282	ORPHA:536
10318	TNIP1	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
10318	TNIP1	HP:0025300	Malar rash	HP:0040282	ORPHA:536
10318	TNIP1	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
10318	TNIP1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
10318	TNIP1	HP:0002072	Chorea	HP:0040284	ORPHA:536
10318	TNIP1	HP:0002039	Anorexia	HP:0040281	ORPHA:536
10318	TNIP1	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
10318	TNIP1	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
10318	TNIP1	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
10318	TNIP1	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
10318	TNIP1	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
10318	TNIP1	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
10318	TNIP1	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
10318	TNIP1	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
10318	TNIP1	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
10318	TNIP1	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
10318	TNIP1	HP:0001945	Fever	HP:0040281	ORPHA:536
10318	TNIP1	HP:0000716	Depression	HP:0040283	ORPHA:536
10318	TNIP1	HP:0000790	Hematuria	HP:0040282	ORPHA:536
10318	TNIP1	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
10318	TNIP1	HP:0000822	Hypertension	HP:0040282	ORPHA:536
10318	TNIP1	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
10318	TNIP1	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
10318	TNIP1	HP:0045073	Serositis	HP:0040283	ORPHA:536
10318	TNIP1	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
10318	TNIP1	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
10318	TNIP1	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
10318	TNIP1	HP:0001596	Alopecia	HP:0040282	ORPHA:536
10318	TNIP1	HP:0012378	Fatigue	HP:0040281	ORPHA:536
10318	TNIP1	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
10318	TNIP1	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
10318	TNIP1	HP:0001824	Weight loss	HP:0040281	ORPHA:536
10318	TNIP1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
10318	TNIP1	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
10318	TNIP1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
10319	LAMC3	HP:0001263	Global developmental delay	1/3	OMIM:614115
10319	LAMC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:614115
10319	LAMC3	HP:0001302	Pachygyria	3/3	OMIM:614115
10319	LAMC3	HP:0002069	Bilateral tonic-clonic seizure	3/3	OMIM:614115
10319	LAMC3	HP:0002126	Polymicrogyria	3/3	OMIM:614115
10319	LAMC3	HP:0002353	EEG abnormality	-	OMIM:614115
10319	LAMC3	HP:0003621	Juvenile onset	3/3	OMIM:614115
10319	LAMC3	HP:0032909	Focal impaired awareness automatism seizure	1/3	OMIM:614115
10319	LAMC3	HP:0000572	Visual loss	1/3	OMIM:614115
10320	IKZF1	HP:0025116	Fetal distress	1/1	OMIM:616873
10320	IKZF1	HP:0003781	Excessive salivation	HP:0040282	ORPHA:36426
10320	IKZF1	HP:0100806	Sepsis	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0010976	Decreased total B cell count	-	OMIM:616873
10320	IKZF1	HP:0003829	Typified by incomplete penetrance	-	OMIM:616873
10320	IKZF1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616873
10320	IKZF1	HP:0002718	Recurrent bacterial infections	-	OMIM:616873
10320	IKZF1	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:36426
10320	IKZF1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0002014	Diarrhea	HP:0040281	ORPHA:36426
10320	IKZF1	HP:0002015	Dysphagia	HP:0040282	ORPHA:36426
10320	IKZF1	HP:0002094	Dyspnea	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0002043	Esophageal stricture	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0100518	Dysuria	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0002103	Abnormal pleura morphology	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0003596	Middle age onset	2/19	OMIM:616873
10320	IKZF1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0100792	Acantholysis	HP:0040281	ORPHA:36426
10320	IKZF1	HP:0200020	Corneal erosion	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0010783	Erythema	HP:0040281	ORPHA:36426
10320	IKZF1	HP:0003621	Juvenile onset	4/19	OMIM:616873
10320	IKZF1	HP:0000613	Photophobia	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0001945	Fever	HP:0040281	ORPHA:36426
10320	IKZF1	HP:0001960	Hypokalemic metabolic alkalosis	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0000621	Entropion	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0001903	Anemia	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:616873
10320	IKZF1	HP:0012735	Cough	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0012733	Macule	HP:0040281	ORPHA:36426
10320	IKZF1	HP:0011463	Childhood onset	7/19	OMIM:616873
10320	IKZF1	HP:0011462	Young adult onset	6/19	OMIM:616873
10320	IKZF1	HP:0000795	Abnormality of the urethra	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0004429	Recurrent viral infections	0/11	OMIM:616873
10320	IKZF1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:36426
10320	IKZF1	HP:0001561	Polyhydramnios	1/1	OMIM:616873
10320	IKZF1	HP:0030016	Dyspareunia	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0002841	Recurrent fungal infections	0/11	OMIM:616873
10320	IKZF1	HP:0012378	Fatigue	HP:0040281	ORPHA:36426
10320	IKZF1	HP:0006554	Acute hepatic failure	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0005387	Combined immunodeficiency	-	OMIM:616873
10320	IKZF1	HP:0001733	Pancreatitis	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0006721	Acute lymphoblastic leukemia	2/29	OMIM:616873
10320	IKZF1	HP:0001824	Weight loss	HP:0040281	ORPHA:36426
10320	IKZF1	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0000505	Visual impairment	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0001874	Abnormality of neutrophils	HP:0040282	ORPHA:36426
10320	IKZF1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:36426
10320	IKZF1	HP:0001876	Pancytopenia	1/1	OMIM:616873
10324	KLHL41	HP:0001181	Adducted thumb	HP:0040283	ORPHA:171430
10324	KLHL41	HP:0002483	Bulbar signs	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0003798	Nemaline bodies	-	OMIM:615731
10324	KLHL41	HP:0003798	Nemaline bodies	HP:0040281	ORPHA:171439
10324	KLHL41	HP:0003798	Nemaline bodies	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0003798	Nemaline bodies	HP:0040281	ORPHA:171433
10324	KLHL41	HP:0003798	Nemaline bodies	HP:0040282	ORPHA:171430
10324	KLHL41	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:171436
10324	KLHL41	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0001270	Motor delay	HP:0040282	ORPHA:171433
10324	KLHL41	HP:0001270	Motor delay	HP:0040282	ORPHA:171430
10324	KLHL41	HP:0001270	Motor delay	-	OMIM:615731
10324	KLHL41	HP:0001270	Motor delay	HP:0040282	ORPHA:171439
10324	KLHL41	HP:0001288	Gait disturbance	HP:0040282	ORPHA:171436
10324	KLHL41	HP:0001288	Gait disturbance	HP:0040282	ORPHA:171433
10324	KLHL41	HP:0001288	Gait disturbance	HP:0040282	ORPHA:171439
10324	KLHL41	HP:0001284	Areflexia	HP:0040283	ORPHA:171433
10324	KLHL41	HP:0001284	Areflexia	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:171436
10324	KLHL41	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:171433
10324	KLHL41	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:171439
10324	KLHL41	HP:0002515	Waddling gait	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0002515	Waddling gait	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171436
10324	KLHL41	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171433
10324	KLHL41	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171430
10324	KLHL41	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171439
10324	KLHL41	HP:0001371	Flexion contracture	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0001371	Flexion contracture	HP:0040282	ORPHA:171433
10324	KLHL41	HP:0001371	Flexion contracture	HP:0040282	ORPHA:171430
10324	KLHL41	HP:0001371	Flexion contracture	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0000054	Micropenis	HP:0040283	ORPHA:171430
10324	KLHL41	HP:0000047	Hypospadias	HP:0040283	ORPHA:171430
10324	KLHL41	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171433
10324	KLHL41	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171430
10324	KLHL41	HP:0007514	Edema of the dorsum of hands	HP:0040283	ORPHA:171430
10324	KLHL41	HP:0001324	Muscle weakness	-	OMIM:615731
10324	KLHL41	HP:0000007	Autosomal recessive inheritance	-	OMIM:615731
10324	KLHL41	HP:0002650	Scoliosis	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0002650	Scoliosis	1/5	OMIM:615731
10324	KLHL41	HP:0002650	Scoliosis	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:171436
10324	KLHL41	HP:0000175	Cleft palate	1/5	OMIM:615731
10324	KLHL41	HP:0002705	High, narrow palate	HP:0040283	ORPHA:171433
10324	KLHL41	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:171436
10324	KLHL41	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:171430
10324	KLHL41	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:171436
10324	KLHL41	HP:0002015	Dysphagia	HP:0040282	ORPHA:171433
10324	KLHL41	HP:0002015	Dysphagia	HP:0040282	ORPHA:171430
10324	KLHL41	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:171439
10324	KLHL41	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:171433
10324	KLHL41	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:171430
10324	KLHL41	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:171436
10324	KLHL41	HP:0002093	Respiratory insufficiency	HP:0040283	OMIM:615731
10324	KLHL41	HP:0002067	Bradykinesia	HP:0040282	ORPHA:171439
10324	KLHL41	HP:0002068	Neuromuscular dysphagia	HP:0040282	ORPHA:171439
10324	KLHL41	HP:0002058	Myopathic facies	HP:0040282	ORPHA:171433
10324	KLHL41	HP:0008180	Mildly elevated creatine kinase	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:171433
10324	KLHL41	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:171439
10324	KLHL41	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:171439
10324	KLHL41	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:171439
10324	KLHL41	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:171436
10324	KLHL41	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:171439
10324	KLHL41	HP:0007010	Poor fine motor coordination	-	ORPHA:171439
10324	KLHL41	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0010628	Facial palsy	HP:0040282	ORPHA:171436
10324	KLHL41	HP:0010628	Facial palsy	HP:0040282	ORPHA:171433
10324	KLHL41	HP:0010628	Facial palsy	HP:0040282	ORPHA:171430
10324	KLHL41	HP:0003691	Scapular winging	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0003690	Limb muscle weakness	HP:0040282	ORPHA:171439
10324	KLHL41	HP:0002375	Hypokinesia	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0002375	Hypokinesia	HP:0040282	ORPHA:171433
10324	KLHL41	HP:0002375	Hypokinesia	HP:0040282	ORPHA:171430
10324	KLHL41	HP:0002312	Clumsiness	HP:0040282	ORPHA:171439
10324	KLHL41	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:171433
10324	KLHL41	HP:0006829	Severe muscular hypotonia	HP:0040282	ORPHA:171430
10324	KLHL41	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:171433
10324	KLHL41	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:171430
10324	KLHL41	HP:0009055	Generalized limb muscle atrophy	HP:0040282	ORPHA:171439
10324	KLHL41	HP:0009058	Increased muscle lipid content	HP:0040282	ORPHA:171439
10324	KLHL41	HP:0009025	Increased connective tissue	HP:0040282	ORPHA:171430
10324	KLHL41	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:171436
10324	KLHL41	HP:0001989	Fetal akinesia sequence	HP:0040283	OMIM:615731
10324	KLHL41	HP:0001989	Fetal akinesia sequence	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:171433
10324	KLHL41	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:171430
10324	KLHL41	HP:0000774	Narrow chest	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0000774	Narrow chest	1/5	OMIM:615731
10324	KLHL41	HP:0000774	Narrow chest	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0000775	Abnormality of the diaphragm	HP:0040283	ORPHA:171430
10324	KLHL41	HP:0003198	Myopathy	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0003198	Myopathy	HP:0040281	ORPHA:171439
10324	KLHL41	HP:0000883	Thin ribs	HP:0040283	ORPHA:171430
10324	KLHL41	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:171433
10324	KLHL41	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:171430
10324	KLHL41	HP:0005855	Multiple prenatal fractures	HP:0040282	ORPHA:171433
10324	KLHL41	HP:0005855	Multiple prenatal fractures	HP:0040282	ORPHA:171430
10324	KLHL41	HP:0000275	Narrow face	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0000275	Narrow face	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0000276	Long face	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0002827	Hip dislocation	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0002808	Kyphosis	HP:0040284	ORPHA:171436
10324	KLHL41	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	ORPHA:171433
10324	KLHL41	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:171430
10324	KLHL41	HP:0002804	Arthrogryposis multiplex congenita	1/5	OMIM:615731
10324	KLHL41	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	ORPHA:171439
10324	KLHL41	HP:0000239	Large fontanelles	HP:0040283	ORPHA:171430
10324	KLHL41	HP:0002878	Respiratory failure	HP:0040282	ORPHA:171433
10324	KLHL41	HP:0002878	Respiratory failure	HP:0040282	ORPHA:171430
10324	KLHL41	HP:0000218	High palate	HP:0040282	ORPHA:171436
10324	KLHL41	HP:0000218	High palate	1/5	OMIM:615731
10324	KLHL41	HP:0000218	High palate	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0002877	Nocturnal hypoventilation	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:171433
10324	KLHL41	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:171430
10324	KLHL41	HP:0001561	Polyhydramnios	1/4	OMIM:615731
10324	KLHL41	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:171439
10324	KLHL41	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:171433
10324	KLHL41	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:171430
10324	KLHL41	HP:0002857	Genu valgum	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0001533	Slender build	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0030198	Fatigable weakness of distal limb muscles	HP:0040282	ORPHA:171436
10324	KLHL41	HP:0000369	Low-set ears	HP:0040283	ORPHA:171433
10324	KLHL41	HP:0000369	Low-set ears	HP:0040283	ORPHA:171430
10324	KLHL41	HP:0000343	Long philtrum	HP:0040283	ORPHA:171433
10324	KLHL41	HP:0000347	Micrognathia	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0000347	Micrognathia	1/5	OMIM:615731
10324	KLHL41	HP:0000347	Micrognathia	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0000316	Hypertelorism	HP:0040283	ORPHA:171433
10324	KLHL41	HP:0000316	Hypertelorism	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0001629	Ventricular septal defect	1/5	OMIM:615731
10324	KLHL41	HP:0001623	Breech presentation	HP:0040282	ORPHA:171430
10324	KLHL41	HP:0001623	Breech presentation	2/4	OMIM:615731
10324	KLHL41	HP:0001623	Breech presentation	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0001622	Premature birth	HP:0040283	ORPHA:171433
10324	KLHL41	HP:0001622	Premature birth	HP:0040283	ORPHA:171430
10324	KLHL41	HP:0002970	Genu varum	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0001638	Cardiomyopathy	-	ORPHA:171433
10324	KLHL41	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0000470	Short neck	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0001761	Pes cavus	HP:0040283	ORPHA:171439
10324	KLHL41	HP:0000508	Ptosis	HP:0040283	ORPHA:171436
10324	KLHL41	HP:0000508	Ptosis	HP:0040284	ORPHA:171439
10329	RXYLT1	HP:0007260	Type II lissencephaly	9/9	OMIM:615041
10329	RXYLT1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:899
10329	RXYLT1	HP:0001284	Areflexia	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0001250	Seizure	HP:0040283	ORPHA:899
10329	RXYLT1	HP:0001252	Hypotonia	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:899
10329	RXYLT1	HP:0002536	Abnormal cortical gyration	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:899
10329	RXYLT1	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:899
10329	RXYLT1	HP:0001328	Specific learning disability	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0001339	Lissencephaly	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615041
10329	RXYLT1	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:899
10329	RXYLT1	HP:0001302	Pachygyria	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:899
10329	RXYLT1	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:899
10329	RXYLT1	HP:0000175	Cleft palate	HP:0040283	ORPHA:899
10329	RXYLT1	HP:0000133	Gonadal dysgenesis	5/8	OMIM:615041
10329	RXYLT1	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0010508	Metatarsus valgus	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0003577	Congenital onset	9/9	OMIM:615041
10329	RXYLT1	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0007033	Cerebellar dysplasia	9/9	OMIM:615041
10329	RXYLT1	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:899
10329	RXYLT1	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0045005	Neural tube defect	5/8	OMIM:615041
10329	RXYLT1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:899
10329	RXYLT1	HP:0007731	Chorioretinal dysplasia	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0000252	Microcephaly	HP:0040283	ORPHA:899
10329	RXYLT1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:899
10329	RXYLT1	HP:0000369	Low-set ears	HP:0040283	ORPHA:899
10329	RXYLT1	HP:0007957	Corneal opacity	HP:0040282	ORPHA:899
10329	RXYLT1	HP:0007973	Retinal dysplasia	6/6	OMIM:615041
10329	RXYLT1	HP:0007973	Retinal dysplasia	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0000482	Microcornea	HP:0040283	ORPHA:899
10329	RXYLT1	HP:0012400	Abnormal circulating aldolase concentration	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0000411	Protruding ear	HP:0040283	ORPHA:899
10329	RXYLT1	HP:0000518	Cataract	HP:0040283	ORPHA:899
10329	RXYLT1	HP:0000528	Anophthalmia	HP:0040282	ORPHA:899
10329	RXYLT1	HP:0000501	Glaucoma	HP:0040282	ORPHA:899
10329	RXYLT1	HP:0000587	Abnormal optic nerve morphology	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:899
10329	RXYLT1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:899
10329	RXYLT1	HP:0000541	Retinal detachment	HP:0040281	ORPHA:899
10342	TFG	HP:0002483	Bulbar signs	HP:0040282	ORPHA:90117
10342	TFG	HP:0002445	Tetraplegia	-	OMIM:604484
10342	TFG	HP:0007289	Limb fasciculations	HP:0040282	ORPHA:90117
10342	TFG	HP:0007220	Demyelinating motor neuropathy	2/2	OMIM:615658
10342	TFG	HP:0007210	Lower limb amyotrophy	2/2	OMIM:615658
10342	TFG	HP:0003701	Proximal muscle weakness	-	OMIM:604484
10342	TFG	HP:0001288	Gait disturbance	-	OMIM:604484
10342	TFG	HP:0001284	Areflexia	HP:0040281	ORPHA:90117
10342	TFG	HP:0001284	Areflexia	-	OMIM:604484
10342	TFG	HP:0001258	Spastic paraplegia	HP:0040281	ORPHA:431329
10342	TFG	HP:0001258	Spastic paraplegia	2/2	OMIM:615658
10342	TFG	HP:0001257	Spasticity	HP:0040281	ORPHA:431329
10342	TFG	HP:0410262	Lower cranial nerve dysfunction	HP:0040283	ORPHA:90117
10342	TFG	HP:0007340	Lower limb muscle weakness	HP:0040281	ORPHA:90117
10342	TFG	HP:0002540	Inability to walk	HP:0040282	ORPHA:90117
10342	TFG	HP:0002540	Inability to walk	HP:0040281	ORPHA:431329
10342	TFG	HP:0002505	Loss of ambulation	2/2	OMIM:615658
10342	TFG	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:90117
10342	TFG	HP:0001347	Hyperreflexia	2/2	OMIM:615658
10342	TFG	HP:0001324	Muscle weakness	2/2	OMIM:615658
10342	TFG	HP:0000007	Autosomal recessive inheritance	-	OMIM:615658
10342	TFG	HP:0001337	Tremor	HP:0040282	ORPHA:90117
10342	TFG	HP:0000006	Autosomal dominant inheritance	-	OMIM:604484
10342	TFG	HP:0008944	Distal lower limb amyotrophy	HP:0040281	ORPHA:431329
10342	TFG	HP:0002015	Dysphagia	HP:0040283	ORPHA:90117
10342	TFG	HP:0002094	Dyspnea	HP:0040283	ORPHA:90117
10342	TFG	HP:0003394	Muscle spasm	-	OMIM:604484
10342	TFG	HP:0002061	Lower limb spasticity	2/2	OMIM:615658
10342	TFG	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:604484
10342	TFG	HP:0008180	Mildly elevated creatine kinase	-	OMIM:604484
10342	TFG	HP:0003474	Somatic sensory dysfunction	HP:0040281	ORPHA:90117
10342	TFG	HP:0003474	Somatic sensory dysfunction	0/2	OMIM:615658
10342	TFG	HP:0003487	Babinski sign	HP:0040281	ORPHA:431329
10342	TFG	HP:0003487	Babinski sign	2/2	OMIM:615658
10342	TFG	HP:0003484	Upper limb muscle weakness	HP:0040281	ORPHA:90117
10342	TFG	HP:0002171	Gliosis	-	OMIM:604484
10342	TFG	HP:0010546	Muscle fibrillation	HP:0040282	ORPHA:90117
10342	TFG	HP:0003581	Adult onset	-	OMIM:604484
10342	TFG	HP:0003551	Difficulty climbing stairs	HP:0040280	ORPHA:431329
10342	TFG	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040283	ORPHA:90117
10342	TFG	HP:0011964	Intermittent painful muscle spasms	HP:0040281	ORPHA:90117
10342	TFG	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:90117
10342	TFG	HP:0002380	Fasciculations	-	OMIM:604484
10342	TFG	HP:0002398	Degeneration of anterior horn cells	-	OMIM:604484
10342	TFG	HP:0003698	Difficulty standing	HP:0040280	ORPHA:431329
10342	TFG	HP:0003698	Difficulty standing	HP:0040282	ORPHA:90117
10342	TFG	HP:0002378	Hand tremor	HP:0040283	OMIM:604484
10342	TFG	HP:0003677	Slowly progressive	-	OMIM:604484
10342	TFG	HP:0010827	Abnormal seventh cranial physiology	HP:0040283	ORPHA:90117
10342	TFG	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:431329
10342	TFG	HP:0009830	Peripheral neuropathy	-	OMIM:604484
10342	TFG	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:431329
10342	TFG	HP:0007126	Proximal amyotrophy	-	OMIM:604484
10342	TFG	HP:0007178	Motor polyneuropathy	HP:0040281	ORPHA:431329
10342	TFG	HP:0000648	Optic atrophy	HP:0040281	ORPHA:431329
10342	TFG	HP:0000648	Optic atrophy	2/2	OMIM:615658
10342	TFG	HP:0003077	Hyperlipidemia	3/13	OMIM:604484
10342	TFG	HP:0003074	Hyperglycemia	4/13	OMIM:604484
10342	TFG	HP:0031910	Abnormal cranial nerve physiology	HP:0040282	ORPHA:90117
10342	TFG	HP:0031936	Delayed ability to walk	2/2	OMIM:615658
10342	TFG	HP:0012735	Cough	HP:0040281	ORPHA:90117
10342	TFG	HP:0000763	Sensory neuropathy	-	OMIM:604484
10342	TFG	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:90117
10342	TFG	HP:0011463	Childhood onset	2/2	OMIM:615658
10342	TFG	HP:0009130	Hand muscle atrophy	2/2	OMIM:615658
10342	TFG	HP:0003134	Abnormality of peripheral nerve conduction	HP:0040280	ORPHA:431329
10342	TFG	HP:0040078	Axonal degeneration	-	OMIM:604484
10342	TFG	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:90117
10342	TFG	HP:0005109	Abnormality of the Achilles tendon	HP:0040281	ORPHA:431329
10342	TFG	HP:0002878	Respiratory failure	HP:0040283	ORPHA:90117
10342	TFG	HP:0030007	EMG: positive sharp waves	HP:0040282	ORPHA:90117
10342	TFG	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040281	ORPHA:90117
10342	TFG	HP:0030179	Abnormal peripheral action potential amplitude	HP:0040281	ORPHA:90117
10342	TFG	HP:0002936	Distal sensory impairment	HP:0040282	ORPHA:90117
10342	TFG	HP:0002936	Distal sensory impairment	-	OMIM:604484
10342	TFG	HP:0011014	Abnormal glucose homeostasis	HP:0040283	ORPHA:90117
10342	TFG	HP:0012447	Abnormal myelination	HP:0040281	ORPHA:431329
10342	TFG	HP:0000572	Visual loss	2/2	OMIM:615658
10345	TRDN	HP:0001197	Abnormality of prenatal development or birth	HP:0040284	ORPHA:101016
10345	TRDN	HP:0003701	Proximal muscle weakness	1/3	OMIM:615441
10345	TRDN	HP:0001279	Syncope	HP:0040282	ORPHA:101016
10345	TRDN	HP:0001279	Syncope	8/9	OMIM:604772
10345	TRDN	HP:0001279	Syncope	1/3	OMIM:615441
10345	TRDN	HP:0001279	Syncope	HP:0040283	ORPHA:3286
10345	TRDN	HP:0001250	Seizure	HP:0040283	ORPHA:101016
10345	TRDN	HP:0001250	Seizure	-	OMIM:604772
10345	TRDN	HP:0000007	Autosomal recessive inheritance	-	OMIM:615441
10345	TRDN	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
10345	TRDN	HP:0000006	Autosomal dominant inheritance	-	OMIM:604772
10345	TRDN	HP:0025478	Atrial standstill	3/6	OMIM:604772
10345	TRDN	HP:0031273	Shock	1/3	OMIM:615441
10345	TRDN	HP:0500018	Abnormal cardiac exercise stress test	HP:0040283	ORPHA:101016
10345	TRDN	HP:0011704	Sick sinus syndrome	1/6	OMIM:604772
10345	TRDN	HP:0004758	Effort-induced polymorphic ventricular tachycardia	5/6	OMIM:604772
10345	TRDN	HP:0004757	Paroxysmal atrial fibrillation	2/6	OMIM:604772
10345	TRDN	HP:0004756	Ventricular tachycardia	-	OMIM:604772
10345	TRDN	HP:0004756	Ventricular tachycardia	HP:0040281	ORPHA:3286
10345	TRDN	HP:0004755	Supraventricular tachycardia	HP:0040282	ORPHA:3286
10345	TRDN	HP:0003593	Infantile onset	2/3	OMIM:615441
10345	TRDN	HP:0002321	Vertigo	HP:0040282	ORPHA:3286
10345	TRDN	HP:0003621	Juvenile onset	1/4	OMIM:604772
10345	TRDN	HP:0034039	Ventricular couplet	1/4	OMIM:604772
10345	TRDN	HP:0034040	Bidirectional ventricular tachycardia	4/4	OMIM:604772
10345	TRDN	HP:0001962	Palpitations	HP:0040282	ORPHA:3286
10345	TRDN	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:101016
10345	TRDN	HP:0011463	Childhood onset	2/4	OMIM:604772
10345	TRDN	HP:0011463	Childhood onset	1/3	OMIM:615441
10345	TRDN	HP:0011462	Young adult onset	1/4	OMIM:604772
10345	TRDN	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
10345	TRDN	HP:0005135	Abnormal T-wave	HP:0040282	ORPHA:101016
10345	TRDN	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:3286
10345	TRDN	HP:0005184	Prolonged QTc interval	HP:0040280	ORPHA:101016
10345	TRDN	HP:0002900	Hypokalemia	HP:0040284	ORPHA:101016
10345	TRDN	HP:0000365	Hearing impairment	-	ORPHA:101016
10345	TRDN	HP:0001695	Cardiac arrest	1/3	OMIM:615441
10345	TRDN	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:3286
10345	TRDN	HP:0001688	Sinus bradycardia	HP:0040282	ORPHA:101016
10345	TRDN	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:101016
10345	TRDN	HP:0001664	Torsade de pointes	HP:0040283	ORPHA:101016
10345	TRDN	HP:0001664	Torsade de pointes	1/46	OMIM:115000
10345	TRDN	HP:0001678	Atrioventricular block	1/6	OMIM:604772
10345	TRDN	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:101016
10345	TRDN	HP:0001645	Sudden cardiac death	-	OMIM:115000
10345	TRDN	HP:0001645	Sudden cardiac death	12/16	OMIM:604772
10345	TRDN	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:3286
10345	TRDN	HP:0001644	Dilated cardiomyopathy	2/6	OMIM:604772
10345	TRDN	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:3286
10345	TRDN	HP:0001663	Ventricular fibrillation	-	OMIM:115000
10345	TRDN	HP:0001657	Prolonged QT interval	0/3	OMIM:615441
10345	TRDN	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
10345	TRDN	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
10345	TRDN	HP:0006682	Premature ventricular contraction	3/3	OMIM:615441
10345	TRDN	HP:0006673	Reduced systolic function	3/6	OMIM:604772
10345	TRDN	HP:0031677	Polymorphic ventricular tachycardia	HP:0040282	ORPHA:3286
10345	TRDN	HP:0031677	Polymorphic ventricular tachycardia	3/3	OMIM:615441
10347	ABCA7	HP:0002463	Language impairment	HP:0040281	ORPHA:1020
10347	ABCA7	HP:0003791	Deposits immunoreactive to beta-amyloid protein	HP:0040281	ORPHA:1020
10347	ABCA7	HP:0410170	Hippocampal atrophy	-	OMIM:608907
10347	ABCA7	HP:0001276	Hypertonia	HP:0040281	ORPHA:1020
10347	ABCA7	HP:0001289	Confusion	HP:0040281	ORPHA:1020
10347	ABCA7	HP:0001250	Seizure	HP:0040281	ORPHA:1020
10347	ABCA7	HP:0001251	Ataxia	HP:0040283	ORPHA:1020
10347	ABCA7	HP:0001249	Intellectual disability	HP:0040283	ORPHA:1020
10347	ABCA7	HP:0002511	Alzheimer disease	-	OMIM:608907
10347	ABCA7	HP:0000006	Autosomal dominant inheritance	-	OMIM:608907
10347	ABCA7	HP:0001336	Myoclonus	HP:0040281	ORPHA:1020
10347	ABCA7	HP:0001300	Parkinsonism	HP:0040281	ORPHA:1020
10347	ABCA7	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	OMIM:608907
10347	ABCA7	HP:0002120	Cerebral cortical atrophy	-	OMIM:608907
10347	ABCA7	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1020
10347	ABCA7	HP:0002186	Apraxia	HP:0040283	ORPHA:1020
10347	ABCA7	HP:0002185	Neurofibrillary tangles	-	OMIM:608907
10347	ABCA7	HP:0002185	Neurofibrillary tangles	HP:0040281	ORPHA:1020
10347	ABCA7	HP:0010526	Dysgraphia	HP:0040283	ORPHA:1020
10347	ABCA7	HP:0010525	Finger agnosia	HP:0040283	ORPHA:1020
10347	ABCA7	HP:0003584	Late onset	-	OMIM:608907
10347	ABCA7	HP:0002381	Aphasia	HP:0040283	ORPHA:1020
10347	ABCA7	HP:0002354	Memory impairment	-	OMIM:608907
10347	ABCA7	HP:0002354	Memory impairment	HP:0040281	ORPHA:1020
10347	ABCA7	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:1020
10347	ABCA7	HP:0000738	Hallucinations	HP:0040281	ORPHA:1020
10347	ABCA7	HP:0000734	Disinhibition	HP:0040282	ORPHA:1020
10347	ABCA7	HP:0000734	Disinhibition	-	OMIM:608907
10347	ABCA7	HP:0000716	Depression	-	OMIM:608907
10347	ABCA7	HP:0000713	Agitation	HP:0040281	ORPHA:1020
10347	ABCA7	HP:0000726	Dementia	HP:0040281	ORPHA:1020
10347	ABCA7	HP:0011446	Abnormality of mental function	HP:0040283	ORPHA:1020
10347	ABCA7	HP:0012759	Neurodevelopmental abnormality	HP:0040281	ORPHA:1020
10347	ABCA7	HP:0100256	Senile plaques	-	OMIM:608907
10347	ABCA7	HP:0030219	Semantic dementia	HP:0040283	ORPHA:1020
10347	ABCA7	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:1020
10347	ABCA7	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1020
10352	WARS2	HP:0002487	Hyperkinetic movements	1/1	OMIM:619738
10352	WARS2	HP:0002474	Expressive language delay	1/1	OMIM:619738
10352	WARS2	HP:0002451	Limb dystonia	HP:0040282	ORPHA:572798
10352	WARS2	HP:0025162	Severe temper tantrums	2/2	OMIM:617710
10352	WARS2	HP:0002421	Poor head control	HP:0040283	ORPHA:572798
10352	WARS2	HP:0003700	Generalized amyotrophy	1/1	OMIM:617710
10352	WARS2	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:572798
10352	WARS2	HP:0001276	Hypertonia	4/4	OMIM:619738
10352	WARS2	HP:0001276	Hypertonia	-	OMIM:617710
10352	WARS2	HP:0001272	Cerebellar atrophy	1/1	OMIM:619738
10352	WARS2	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:572798
10352	WARS2	HP:0001272	Cerebellar atrophy	-	OMIM:617710
10352	WARS2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:572798
10352	WARS2	HP:0001250	Seizure	HP:0040282	ORPHA:572798
10352	WARS2	HP:0001250	Seizure	HP:0040284	OMIM:617710
10352	WARS2	HP:0001251	Ataxia	3/6	OMIM:619738
10352	WARS2	HP:0001251	Ataxia	HP:0040283	ORPHA:572798
10352	WARS2	HP:0001251	Ataxia	2/2	OMIM:617710
10352	WARS2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:572798
10352	WARS2	HP:0001249	Intellectual disability	3/3	OMIM:617710
10352	WARS2	HP:0001249	Intellectual disability	3/6	OMIM:619738
10352	WARS2	HP:0001260	Dysarthria	2/2	OMIM:617710
10352	WARS2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:572798
10352	WARS2	HP:0001263	Global developmental delay	3/3	OMIM:617710
10352	WARS2	HP:0002518	Abnormal periventricular white matter morphology	HP:0040282	ORPHA:572798
10352	WARS2	HP:0002510	Spastic tetraplegia	1/1	OMIM:617710
10352	WARS2	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:572798
10352	WARS2	HP:0002509	Limb hypertonia	-	OMIM:617710
10352	WARS2	HP:0002509	Limb hypertonia	HP:0040282	ORPHA:572798
10352	WARS2	HP:0002506	Diffuse cerebral atrophy	1/1	OMIM:617710
10352	WARS2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:572798
10352	WARS2	HP:0001347	Hyperreflexia	1/1	OMIM:617710
10352	WARS2	HP:0031165	Multifocal seizures	1/1	OMIM:617710
10352	WARS2	HP:0031165	Multifocal seizures	HP:0040283	ORPHA:572798
10352	WARS2	HP:0001332	Dystonia	8/8	OMIM:619738
10352	WARS2	HP:0001332	Dystonia	-	OMIM:617710
10352	WARS2	HP:0001324	Muscle weakness	HP:0040282	ORPHA:572798
10352	WARS2	HP:0001324	Muscle weakness	2/2	OMIM:617710
10352	WARS2	HP:0001344	Absent speech	HP:0040283	ORPHA:572798
10352	WARS2	HP:0001344	Absent speech	1/1	OMIM:617710
10352	WARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617710
10352	WARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619738
10352	WARS2	HP:0001337	Tremor	1/1	OMIM:619738
10352	WARS2	HP:0001337	Tremor	HP:0040283	ORPHA:572798
10352	WARS2	HP:0001337	Tremor	1/1	OMIM:617710
10352	WARS2	HP:0001310	Dysmetria	HP:0040283	ORPHA:572798
10352	WARS2	HP:0001310	Dysmetria	1/1	OMIM:617710
10352	WARS2	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:572798
10352	WARS2	HP:0001300	Parkinsonism	3/7	OMIM:619738
10352	WARS2	HP:0008947	Floppy infant	HP:0040281	ORPHA:572798
10352	WARS2	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:572798
10352	WARS2	HP:0008936	Axial hypotonia	11/11	OMIM:617710
10352	WARS2	HP:0025403	Stooped posture	1/1	OMIM:619738
10352	WARS2	HP:0002015	Dysphagia	1/6	OMIM:619738
10352	WARS2	HP:0002015	Dysphagia	HP:0040283	ORPHA:572798
10352	WARS2	HP:0002072	Chorea	3/7	OMIM:619738
10352	WARS2	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:572798
10352	WARS2	HP:0002059	Cerebral atrophy	-	OMIM:617710
10352	WARS2	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:572798
10352	WARS2	HP:0002151	Increased circulating lactate concentration	-	OMIM:617710
10352	WARS2	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:572798
10352	WARS2	HP:0002119	Ventriculomegaly	1/1	OMIM:617710
10352	WARS2	HP:0002107	Pneumothorax	1/1	OMIM:619738
10352	WARS2	HP:0002188	Delayed CNS myelination	1/1	OMIM:617710
10352	WARS2	HP:0002187	Intellectual disability, profound	HP:0040283	ORPHA:572798
10352	WARS2	HP:0002198	Dilated fourth ventricle	HP:0040283	ORPHA:572798
10352	WARS2	HP:0002167	Abnormal speech pattern	-	OMIM:617710
10352	WARS2	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:572798
10352	WARS2	HP:0003593	Infantile onset	1/1	OMIM:617710
10352	WARS2	HP:0002283	Global brain atrophy	1/1	OMIM:619738
10352	WARS2	HP:0011968	Feeding difficulties	-	OMIM:617710
10352	WARS2	HP:0003698	Difficulty standing	HP:0040283	ORPHA:572798
10352	WARS2	HP:0002365	Hypoplasia of the brainstem	HP:0040283	ORPHA:572798
10352	WARS2	HP:0002376	Developmental regression	1/1	OMIM:619738
10352	WARS2	HP:0002345	Action tremor	6/6	OMIM:619738
10352	WARS2	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:572798
10352	WARS2	HP:0002352	Leukoencephalopathy	1/1	OMIM:617710
10352	WARS2	HP:0002352	Leukoencephalopathy	HP:0040283	ORPHA:572798
10352	WARS2	HP:0100660	Dyskinesia	1/1	OMIM:619738
10352	WARS2	HP:0003623	Neonatal onset	1/6	OMIM:619738
10352	WARS2	HP:0002305	Athetosis	2/2	OMIM:617710
10352	WARS2	HP:0002305	Athetosis	HP:0040283	ORPHA:572798
10352	WARS2	HP:0003621	Juvenile onset	3/6	OMIM:619738
10352	WARS2	HP:0000639	Nystagmus	HP:0040283	ORPHA:572798
10352	WARS2	HP:0000639	Nystagmus	1/1	OMIM:617710
10352	WARS2	HP:0000646	Amblyopia	1/1	OMIM:617710
10352	WARS2	HP:0000646	Amblyopia	HP:0040283	ORPHA:572798
10352	WARS2	HP:0000648	Optic atrophy	-	OMIM:617710
10352	WARS2	HP:0001943	Hypoglycemia	1/1	OMIM:617710
10352	WARS2	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:572798
10352	WARS2	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:572798
10352	WARS2	HP:0005656	Positional foot deformity	HP:0040283	ORPHA:572798
10352	WARS2	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:572798
10352	WARS2	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:572798
10352	WARS2	HP:0000739	Anxiety	2/6	OMIM:619738
10352	WARS2	HP:0012704	Widened subarachnoid space	HP:0040283	ORPHA:572798
10352	WARS2	HP:0000716	Depression	2/6	OMIM:619738
10352	WARS2	HP:0000718	Aggressive behavior	1/6	OMIM:619738
10352	WARS2	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:572798
10352	WARS2	HP:0000718	Aggressive behavior	2/2	OMIM:617710
10352	WARS2	HP:0000709	Psychosis	2/6	OMIM:619738
10352	WARS2	HP:0011463	Childhood onset	4/8	OMIM:619738
10352	WARS2	HP:0012760	Reduced social responsiveness	1/6	OMIM:619738
10352	WARS2	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:572798
10352	WARS2	HP:0003128	Lactic acidosis	-	OMIM:617710
10352	WARS2	HP:0003202	Skeletal muscle atrophy	-	OMIM:617710
10352	WARS2	HP:0007772	Impaired smooth pursuit	HP:0040283	ORPHA:572798
10352	WARS2	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:572798
10352	WARS2	HP:0000218	High palate	HP:0040283	ORPHA:572798
10352	WARS2	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:572798
10352	WARS2	HP:0001511	Intrauterine growth retardation	-	OMIM:617710
10352	WARS2	HP:0001510	Growth delay	2/6	OMIM:619738
10352	WARS2	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040282	ORPHA:572798
10352	WARS2	HP:0000369	Low-set ears	HP:0040283	ORPHA:572798
10352	WARS2	HP:0000343	Long philtrum	2/2	OMIM:617710
10352	WARS2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:572798
10352	WARS2	HP:0001622	Premature birth	1/1	OMIM:619738
10352	WARS2	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:572798
10352	WARS2	HP:0001638	Cardiomyopathy	HP:0040284	OMIM:617710
10352	WARS2	HP:0000486	Strabismus	-	OMIM:617710
10352	WARS2	HP:0012448	Delayed myelination	HP:0040282	ORPHA:572798
10352	WARS2	HP:0012430	Cerebral white matter hypoplasia	HP:0040282	ORPHA:572798
10352	WARS2	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:572798
10352	WARS2	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:572798
10352	WARS2	HP:0000510	Rod-cone dystrophy	HP:0040284	OMIM:617710
10352	WARS2	HP:0000577	Exotropia	1/1	OMIM:617710
10352	WARS2	HP:0000577	Exotropia	HP:0040283	ORPHA:572798
10352	WARS2	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:572798
10352	WARS2	HP:0001873	Thrombocytopenia	1/1	OMIM:617710
10367	MICU1	HP:0010910	Hypervalinemia	1/1	OMIM:615673
10367	MICU1	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:401768
10367	MICU1	HP:0003701	Proximal muscle weakness	15/15	OMIM:615673
10367	MICU1	HP:0001270	Motor delay	13/13	OMIM:615673
10367	MICU1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:401768
10367	MICU1	HP:0001288	Gait disturbance	4/13	OMIM:615673
10367	MICU1	HP:0001250	Seizure	5/14	OMIM:615673
10367	MICU1	HP:0001252	Hypotonia	6/13	OMIM:615673
10367	MICU1	HP:0001251	Ataxia	HP:0040283	ORPHA:401768
10367	MICU1	HP:0001251	Ataxia	1/1	OMIM:615673
10367	MICU1	HP:0001266	Choreoathetosis	1/13	OMIM:615673
10367	MICU1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:401768
10367	MICU1	HP:0001263	Global developmental delay	14/14	OMIM:615673
10367	MICU1	HP:0001382	Joint hypermobility	1/13	OMIM:615673
10367	MICU1	HP:0001332	Dystonia	HP:0040282	ORPHA:401768
10367	MICU1	HP:0001332	Dystonia	13/28	OMIM:615673
10367	MICU1	HP:0001328	Specific learning disability	15/15	OMIM:615673
10367	MICU1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615673
10367	MICU1	HP:0001337	Tremor	10/15	OMIM:615673
10367	MICU1	HP:0008981	Calf muscle hypertrophy	3/13	OMIM:615673
10367	MICU1	HP:0003394	Muscle spasm	4/13	OMIM:615673
10367	MICU1	HP:0003391	Gowers sign	1/13	OMIM:615673
10367	MICU1	HP:0002072	Chorea	HP:0040282	ORPHA:401768
10367	MICU1	HP:0002072	Chorea	10/15	OMIM:615673
10367	MICU1	HP:0002071	Abnormality of extrapyramidal motor function	15/28	OMIM:615673
10367	MICU1	HP:0003388	Easy fatigability	1/13	OMIM:615673
10367	MICU1	HP:0008180	Mildly elevated creatine kinase	HP:0040283	ORPHA:401768
10367	MICU1	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:401768
10367	MICU1	HP:0003477	Peripheral axonal neuropathy	HP:0040283	OMIM:615673
10367	MICU1	HP:0002133	Status epilepticus	1/1	OMIM:615673
10367	MICU1	HP:0002169	Clonus	1/1	OMIM:615673
10367	MICU1	HP:0002161	Hyperlysinemia	1/1	OMIM:615673
10367	MICU1	HP:0002240	Hepatomegaly	2/8	OMIM:615673
10367	MICU1	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:401768
10367	MICU1	HP:0007033	Cerebellar dysplasia	1/1	OMIM:615673
10367	MICU1	HP:0001027	Soft, doughy skin	1/13	OMIM:615673
10367	MICU1	HP:0002359	Frequent falls	2/8	OMIM:615673
10367	MICU1	HP:0003687	Centrally nucleated skeletal muscle fibers	HP:0040282	ORPHA:401768
10367	MICU1	HP:0002322	Resting tremor	HP:0040282	ORPHA:401768
10367	MICU1	HP:0010804	Tented upper lip vermilion	1/13	OMIM:615673
10367	MICU1	HP:0007153	Progressive extrapyramidal movement disorder	HP:0040282	ORPHA:401768
10367	MICU1	HP:0007158	Progressive extrapyramidal muscular rigidity	HP:0040282	ORPHA:401768
10367	MICU1	HP:0002312	Clumsiness	1/1	OMIM:615673
10367	MICU1	HP:0002310	Orofacial dyskinesia	10/15	OMIM:615673
10367	MICU1	HP:0002310	Orofacial dyskinesia	HP:0040282	ORPHA:401768
10367	MICU1	HP:0034051	Hypoplastic anterior limbs of the internal capsule	1/1	OMIM:615673
10367	MICU1	HP:0000646	Amblyopia	1/1	OMIM:615673
10367	MICU1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:401768
10367	MICU1	HP:0000648	Optic atrophy	1/15	OMIM:615673
10367	MICU1	HP:0001974	Increased total leukocyte count	1/1	OMIM:615673
10367	MICU1	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:401768
10367	MICU1	HP:0009046	Difficulty running	7/15	OMIM:615673
10367	MICU1	HP:0009046	Difficulty running	HP:0040282	ORPHA:401768
10367	MICU1	HP:0012650	Perisylvian polymicrogyria	1/1	OMIM:615673
10367	MICU1	HP:0004305	Involuntary movements	HP:0040282	ORPHA:401768
10367	MICU1	HP:0012751	Abnormal basal ganglia MRI signal intensity	HP:0040282	ORPHA:401768
10367	MICU1	HP:0000752	Hyperactivity	2/13	OMIM:615673
10367	MICU1	HP:0000750	Delayed speech and language development	11/11	OMIM:615673
10367	MICU1	HP:0000831	Insulin-resistant diabetes mellitus	-	ORPHA:401768
10367	MICU1	HP:0003236	Elevated circulating creatine kinase concentration	12/12	OMIM:615673
10367	MICU1	HP:0040197	Encephalomalacia	1/1	OMIM:615673
10367	MICU1	HP:0000286	Epicanthus	1/1	OMIM:615673
10367	MICU1	HP:0000275	Narrow face	1/1	OMIM:615673
10367	MICU1	HP:0000252	Microcephaly	HP:0040283	ORPHA:401768
10367	MICU1	HP:0000252	Microcephaly	5/15	OMIM:615673
10367	MICU1	HP:0001510	Growth delay	4/10	OMIM:615673
10367	MICU1	HP:0002910	Elevated circulating hepatic transaminase concentration	12/12	OMIM:615673
10367	MICU1	HP:0002922	Increased CSF protein concentration	1/1	OMIM:615673
10367	MICU1	HP:0000365	Hearing impairment	-	ORPHA:401768
10367	MICU1	HP:0000316	Hypertelorism	1/1	OMIM:615673
10367	MICU1	HP:0001629	Ventricular septal defect	2/13	OMIM:615673
10367	MICU1	HP:0001638	Cardiomyopathy	-	ORPHA:401768
10367	MICU1	HP:0030230	Central core regions in muscle fibers	HP:0040282	ORPHA:401768
10367	MICU1	HP:0030235	Extremely elevated creatine kinase	1/1	OMIM:615673
10367	MICU1	HP:0000463	Anteverted nares	1/1	OMIM:615673
10367	MICU1	HP:0000470	Short neck	1/13	OMIM:615673
10367	MICU1	HP:0001744	Splenomegaly	1/8	OMIM:615673
10367	MICU1	HP:0000508	Ptosis	HP:0040283	ORPHA:401768
10367	MICU1	HP:0000508	Ptosis	2/15	OMIM:615673
10369	CACNG2	HP:0001250	Seizure	0/1	OMIM:614256
10369	CACNG2	HP:0410263	Brain imaging abnormality	0/1	OMIM:614256
10369	CACNG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614256
10369	CACNG2	HP:0002342	Intellectual disability, moderate	1/1	OMIM:614256
10369	CACNG2	HP:0011463	Childhood onset	1/1	OMIM:614256
10370	CITED2	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3303
10370	CITED2	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:3303
10370	CITED2	HP:0001297	Stroke	HP:0040284	ORPHA:99105
10370	CITED2	HP:0001297	Stroke	HP:0040284	ORPHA:99103
10370	CITED2	HP:0001279	Syncope	HP:0040284	ORPHA:99103
10370	CITED2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3303
10370	CITED2	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
10370	CITED2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614433
10370	CITED2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614431
10370	CITED2	HP:0002718	Recurrent bacterial infections	HP:0040284	ORPHA:99103
10370	CITED2	HP:0005957	Breathing dysregulation	HP:0040283	ORPHA:99103
10370	CITED2	HP:0002094	Dyspnea	HP:0040283	ORPHA:99105
10370	CITED2	HP:0002094	Dyspnea	HP:0040283	ORPHA:99103
10370	CITED2	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:99105
10370	CITED2	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:99103
10370	CITED2	HP:0002090	Pneumonia	HP:0040284	ORPHA:99103
10370	CITED2	HP:0011716	Junctional ectopic tachycardia	HP:0040283	ORPHA:99105
10370	CITED2	HP:0011712	Complete right bundle branch block	HP:0040283	ORPHA:99105
10370	CITED2	HP:0011710	Bundle branch block	HP:0040283	ORPHA:99103
10370	CITED2	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:99103
10370	CITED2	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:99105
10370	CITED2	HP:0011700	Automatic atrial tachycardia	HP:0040283	ORPHA:99105
10370	CITED2	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:99103
10370	CITED2	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:99105
10370	CITED2	HP:0004749	Atrial flutter	HP:0040283	ORPHA:99103
10370	CITED2	HP:0004749	Atrial flutter	HP:0040283	ORPHA:99105
10370	CITED2	HP:0003577	Congenital onset	1/1	OMIM:614431
10370	CITED2	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:99105
10370	CITED2	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:99103
10370	CITED2	HP:0002326	Transient ischemic attack	HP:0040284	ORPHA:99103
10370	CITED2	HP:0010772	Anomalous pulmonary venous return	1/2	OMIM:614433
10370	CITED2	HP:0010772	Anomalous pulmonary venous return	HP:0040282	ORPHA:99105
10370	CITED2	HP:0010741	Pedal edema	HP:0040283	ORPHA:99103
10370	CITED2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
10370	CITED2	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:3303
10370	CITED2	HP:0001962	Palpitations	HP:0040282	ORPHA:99105
10370	CITED2	HP:0001962	Palpitations	HP:0040282	ORPHA:99103
10370	CITED2	HP:0001907	Thromboembolism	HP:0040284	ORPHA:99105
10370	CITED2	HP:0012764	Orthopnea	HP:0040283	ORPHA:99103
10370	CITED2	HP:0004467	Preauricular pit	HP:0040282	ORPHA:3303
10370	CITED2	HP:0004467	Preauricular pit	-	OMIM:187500
10370	CITED2	HP:0030718	Right atrial enlargement	HP:0040282	ORPHA:99103
10370	CITED2	HP:0000961	Cyanosis	HP:0040284	ORPHA:99103
10370	CITED2	HP:0011675	Arrhythmia	HP:0040283	ORPHA:99103
10370	CITED2	HP:0011682	Perimembranous ventricular septal defect	1/1	OMIM:614431
10370	CITED2	HP:0012250	ST segment depression	HP:0040283	ORPHA:99103
10370	CITED2	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:3303
10370	CITED2	HP:0005133	Right ventricular dilatation	HP:0040283	ORPHA:99103
10370	CITED2	HP:0005133	Right ventricular dilatation	HP:0040283	ORPHA:99105
10370	CITED2	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:99103
10370	CITED2	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:99105
10370	CITED2	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:99103
10370	CITED2	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:99105
10370	CITED2	HP:0005105	Abnormal nasal morphology	HP:0040281	ORPHA:3303
10370	CITED2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:99103
10370	CITED2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:99105
10370	CITED2	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:3303
10370	CITED2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3303
10370	CITED2	HP:0012378	Fatigue	HP:0040282	ORPHA:99105
10370	CITED2	HP:0012378	Fatigue	HP:0040282	ORPHA:99103
10370	CITED2	HP:0012382	Left-to-right shunt	HP:0040281	ORPHA:99103
10370	CITED2	HP:0012382	Left-to-right shunt	HP:0040281	ORPHA:99105
10370	CITED2	HP:0006536	Airway obstruction	HP:0040284	ORPHA:99103
10370	CITED2	HP:0006536	Airway obstruction	HP:0040284	ORPHA:99105
10370	CITED2	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:99105
10370	CITED2	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:99103
10370	CITED2	HP:0005162	Abnormal left ventricular function	HP:0040283	ORPHA:99103
10370	CITED2	HP:0001692	Atrial arrhythmia	HP:0040283	ORPHA:99105
10370	CITED2	HP:0000337	Broad forehead	-	OMIM:187500
10370	CITED2	HP:0000337	Broad forehead	HP:0040281	ORPHA:3303
10370	CITED2	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:99103
10370	CITED2	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:3303
10370	CITED2	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
10370	CITED2	HP:0001635	Congestive heart failure	HP:0040284	ORPHA:99105
10370	CITED2	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:99103
10370	CITED2	HP:0001631	Atrial septal defect	2/2	OMIM:614433
10370	CITED2	HP:0001633	Abnormal mitral valve morphology	HP:0040283	ORPHA:99103
10370	CITED2	HP:0006699	Premature atrial contractions	HP:0040283	ORPHA:99105
10370	CITED2	HP:0005317	Increased pulmonary vascular resistance	HP:0040284	ORPHA:99103
10370	CITED2	HP:0001708	Right ventricular failure	HP:0040284	ORPHA:99103
10370	CITED2	HP:0031546	Cardiac conduction abnormality	HP:0040282	ORPHA:99105
10370	CITED2	HP:0000520	Proptosis	-	OMIM:187500
10370	CITED2	HP:0000520	Proptosis	HP:0040282	ORPHA:3303
10370	CITED2	HP:0031663	Paradoxical splitting of the second heart sound	HP:0040282	ORPHA:99105
10370	CITED2	HP:0031664	Systolic heart murmur	HP:0040282	ORPHA:99103
10370	CITED2	HP:0031664	Systolic heart murmur	HP:0040282	ORPHA:99105
10371	SEMA3A	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
10371	SEMA3A	HP:0001293	Cranial nerve compression	-	OMIM:131300
10371	SEMA3A	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0001279	Syncope	HP:0040282	ORPHA:130
10371	SEMA3A	HP:0001250	Seizure	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0001252	Hypotonia	2/7	OMIM:615777
10371	SEMA3A	HP:0001251	Ataxia	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0001249	Intellectual disability	5/7	OMIM:615777
10371	SEMA3A	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0001263	Global developmental delay	-	OMIM:615777
10371	SEMA3A	HP:0008734	Decreased testicular size	1/1	OMIM:146110
10371	SEMA3A	HP:0008734	Decreased testicular size	-	OMIM:614897
10371	SEMA3A	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
10371	SEMA3A	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
10371	SEMA3A	HP:0002515	Waddling gait	54/102	OMIM:131300
10371	SEMA3A	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
10371	SEMA3A	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
10371	SEMA3A	HP:0000054	Micropenis	1/1	OMIM:146110
10371	SEMA3A	HP:0000054	Micropenis	-	OMIM:614897
10371	SEMA3A	HP:0000054	Micropenis	HP:0040281	ORPHA:478
10371	SEMA3A	HP:0001382	Joint hypermobility	-	OMIM:615777
10371	SEMA3A	HP:0002694	Sclerosis of skull base	-	OMIM:131300
10371	SEMA3A	HP:0000028	Cryptorchidism	-	OMIM:146110
10371	SEMA3A	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
10371	SEMA3A	HP:0000028	Cryptorchidism	1/2	OMIM:614897
10371	SEMA3A	HP:0000027	Azoospermia	-	OMIM:614897
10371	SEMA3A	HP:0008897	Postnatal growth retardation	-	OMIM:615777
10371	SEMA3A	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
10371	SEMA3A	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0001324	Muscle weakness	40/96	OMIM:131300
10371	SEMA3A	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
10371	SEMA3A	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
10371	SEMA3A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
10371	SEMA3A	HP:0001335	Bimanual synkinesia	0/3	OMIM:614897
10371	SEMA3A	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0001337	Tremor	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
10371	SEMA3A	HP:0000006	Autosomal dominant inheritance	-	OMIM:614897
10371	SEMA3A	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0002650	Scoliosis	12/14	OMIM:131300
10371	SEMA3A	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
10371	SEMA3A	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
10371	SEMA3A	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
10371	SEMA3A	HP:0032466	Aplasia of the olfactory bulb	1/3	OMIM:614897
10371	SEMA3A	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
10371	SEMA3A	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0000175	Cleft palate	2/7	OMIM:615777
10371	SEMA3A	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
10371	SEMA3A	HP:0000135	Hypogonadism	2/3	OMIM:614897
10371	SEMA3A	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0040326	Hypoplasia of the olfactory bulb	2/3	OMIM:614897
10371	SEMA3A	HP:0003388	Easy fatigability	36/76	OMIM:131300
10371	SEMA3A	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
10371	SEMA3A	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
10371	SEMA3A	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
10371	SEMA3A	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
10371	SEMA3A	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
10371	SEMA3A	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
10371	SEMA3A	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
10371	SEMA3A	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0008214	Decreased serum estradiol	1/1	OMIM:614897
10371	SEMA3A	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
10371	SEMA3A	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
10371	SEMA3A	HP:0003510	Severe short stature	7/7	OMIM:615777
10371	SEMA3A	HP:0002315	Headache	-	OMIM:131300
10371	SEMA3A	HP:0004976	Knee dislocation	6/7	OMIM:615777
10371	SEMA3A	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0009803	Short phalanx of finger	-	OMIM:615777
10371	SEMA3A	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
10371	SEMA3A	HP:0009763	Limb pain	63/92	OMIM:131300
10371	SEMA3A	HP:0003621	Juvenile onset	2/2	OMIM:146110
10371	SEMA3A	HP:0003621	Juvenile onset	-	OMIM:131300
10371	SEMA3A	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
10371	SEMA3A	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
10371	SEMA3A	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
10371	SEMA3A	HP:6001056	Out-toeing	-	OMIM:131300
10371	SEMA3A	HP:0000651	Diplopia	-	OMIM:131300
10371	SEMA3A	HP:0001956	Truncal obesity	2/7	OMIM:615777
10371	SEMA3A	HP:0001903	Anemia	HP:0040283	OMIM:131300
10371	SEMA3A	HP:0010049	Short metacarpal	-	OMIM:615777
10371	SEMA3A	HP:0000678	Dental crowding	-	OMIM:615777
10371	SEMA3A	HP:0000670	Carious teeth	-	OMIM:131300
10371	SEMA3A	HP:0011304	Broad thumb	2/7	OMIM:615777
10371	SEMA3A	HP:0000668	Hypodontia	-	OMIM:615777
10371	SEMA3A	HP:0000664	Synophrys	-	OMIM:615777
10371	SEMA3A	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
10371	SEMA3A	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0004396	Poor appetite	-	OMIM:131300
10371	SEMA3A	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
10371	SEMA3A	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
10371	SEMA3A	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
10371	SEMA3A	HP:0003026	Short long bone	7/7	OMIM:615777
10371	SEMA3A	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
10371	SEMA3A	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
10371	SEMA3A	HP:0000771	Gynecomastia	0/1	OMIM:146110
10371	SEMA3A	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0000767	Pectus excavatum	2/7	OMIM:615777
10371	SEMA3A	HP:0000768	Pectus carinatum	1/7	OMIM:615777
10371	SEMA3A	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
10371	SEMA3A	HP:0000750	Delayed speech and language development	-	OMIM:615777
10371	SEMA3A	HP:0011461	Fetal onset	7/7	OMIM:615777
10371	SEMA3A	HP:0000774	Narrow chest	2/7	OMIM:615777
10371	SEMA3A	HP:0000789	Infertility	HP:0040283	OMIM:146110
10371	SEMA3A	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
10371	SEMA3A	HP:0000786	Primary amenorrhea	1/1	OMIM:614897
10371	SEMA3A	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0004409	Hyposmia	2/3	OMIM:614897
10371	SEMA3A	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
10371	SEMA3A	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
10371	SEMA3A	HP:0000926	Platyspondyly	1/7	OMIM:615777
10371	SEMA3A	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
10371	SEMA3A	HP:0003180	Flat acetabular roof	-	OMIM:615777
10371	SEMA3A	HP:0004482	Relative macrocephaly	-	OMIM:615777
10371	SEMA3A	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
10371	SEMA3A	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
10371	SEMA3A	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
10371	SEMA3A	HP:0000823	Delayed puberty	-	OMIM:131300
10371	SEMA3A	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
10371	SEMA3A	HP:0000894	Short clavicles	-	OMIM:615777
10371	SEMA3A	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
10371	SEMA3A	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
10371	SEMA3A	HP:0040171	Decreased serum testosterone concentration	2/2	OMIM:614897
10371	SEMA3A	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0000286	Epicanthus	1/7	OMIM:615777
10371	SEMA3A	HP:0000280	Coarse facial features	2/7	OMIM:615777
10371	SEMA3A	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
10371	SEMA3A	HP:0002827	Hip dislocation	3/7	OMIM:615777
10371	SEMA3A	HP:0000252	Microcephaly	-	OMIM:615777
10371	SEMA3A	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0002857	Genu valgum	-	OMIM:131300
10371	SEMA3A	HP:0001533	Slender build	-	OMIM:131300
10371	SEMA3A	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
10371	SEMA3A	HP:0001513	Obesity	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0007807	Optic nerve compression	-	OMIM:131300
10371	SEMA3A	HP:0012368	Flat face	7/7	OMIM:615777
10371	SEMA3A	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
10371	SEMA3A	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
10371	SEMA3A	HP:0000365	Hearing impairment	10/67	OMIM:131300
10371	SEMA3A	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
10371	SEMA3A	HP:0000343	Long philtrum	1/7	OMIM:615777
10371	SEMA3A	HP:0011001	Increased bone mineral density	-	OMIM:131300
10371	SEMA3A	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
10371	SEMA3A	HP:0000311	Round face	2/7	OMIM:615777
10371	SEMA3A	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
10371	SEMA3A	HP:0002970	Genu varum	-	OMIM:615777
10371	SEMA3A	HP:0000303	Mandibular prognathia	-	OMIM:131300
10371	SEMA3A	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
10371	SEMA3A	HP:0000458	Anosmia	1/3	OMIM:614897
10371	SEMA3A	HP:0000458	Anosmia	HP:0040281	ORPHA:478
10371	SEMA3A	HP:0000470	Short neck	1/7	OMIM:615777
10371	SEMA3A	HP:0001769	Broad foot	HP:0040283	OMIM:615777
10371	SEMA3A	HP:0001763	Pes planus	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0001763	Pes planus	1/7	OMIM:615777
10371	SEMA3A	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0025708	Early young adult onset	3/3	OMIM:614897
10371	SEMA3A	HP:0001840	Metatarsus adductus	-	OMIM:615777
10371	SEMA3A	HP:0000520	Proptosis	2/4	OMIM:131300
10371	SEMA3A	HP:0000520	Proptosis	7/7	OMIM:615777
10371	SEMA3A	HP:0000508	Ptosis	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0030344	Decreased circulating luteinizing hormone level	3/3	OMIM:614897
10371	SEMA3A	HP:0030341	Decreased circulating follicle stimulating hormone concentration	3/3	OMIM:614897
10371	SEMA3A	HP:0000592	Blue sclerae	2/7	OMIM:615777
10371	SEMA3A	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
10371	SEMA3A	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
10371	SEMA3A	HP:0012514	Lower limb pain	4/4	OMIM:131300
10379	IRF9	HP:0000007	Autosomal recessive inheritance	-	OMIM:618648
10379	IRF9	HP:0031123	Recurrent gastroenteritis	-	OMIM:618648
10379	IRF9	HP:0002110	Bronchiectasis	-	OMIM:618648
10379	IRF9	HP:0004429	Recurrent viral infections	-	OMIM:618648
10379	IRF9	HP:0010280	Stomatitis	-	OMIM:618648
10379	IRF9	HP:0000230	Gingivitis	-	OMIM:618648
10381	TUBB3	HP:0002497	Spastic ataxia	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0002465	Poor speech	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0025102	Dysgenesis of the basal ganglia	4/7	OMIM:600638
10381	TUBB3	HP:0025101	Dysgenesis of the hippocampus	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0002474	Expressive language delay	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0025186	Marcus Gunn jaw winking synkinesis	HP:0040283	ORPHA:45358
10381	TUBB3	HP:0009916	Anisocoria	HP:0040283	ORPHA:45358
10381	TUBB3	HP:0007260	Type II lissencephaly	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0020214	Startle-induced seizure	HP:0040283	ORPHA:467166
10381	TUBB3	HP:0010862	Delayed fine motor development	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0009879	Simplified gyral pattern	5/9	OMIM:614039
10381	TUBB3	HP:0009879	Simplified gyral pattern	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0001274	Agenesis of corpus callosum	1/9	OMIM:614039
10381	TUBB3	HP:0001274	Agenesis of corpus callosum	HP:0040283	OMIM:600638
10381	TUBB3	HP:0001273	Abnormal corpus callosum morphology	HP:0040281	ORPHA:467166
10381	TUBB3	HP:0001250	Seizure	2/9	OMIM:614039
10381	TUBB3	HP:0001250	Seizure	HP:0040280	ORPHA:300570
10381	TUBB3	HP:0001252	Hypotonia	HP:0040283	ORPHA:467166
10381	TUBB3	HP:0001252	Hypotonia	HP:0040283	ORPHA:45358
10381	TUBB3	HP:0001251	Ataxia	HP:0040283	ORPHA:467166
10381	TUBB3	HP:0001249	Intellectual disability	HP:0040283	ORPHA:45358
10381	TUBB3	HP:0001249	Intellectual disability	9/9	OMIM:614039
10381	TUBB3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0001264	Spastic diplegia	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0001260	Dysarthria	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:467166
10381	TUBB3	HP:0001263	Global developmental delay	4/7	OMIM:600638
10381	TUBB3	HP:0001263	Global developmental delay	-	OMIM:614039
10381	TUBB3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:300570
10381	TUBB3	HP:0001257	Spasticity	2/9	OMIM:614039
10381	TUBB3	HP:0001257	Spasticity	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0001239	Wrist flexion contracture	HP:0040283	OMIM:600638
10381	TUBB3	HP:0032398	Dysgyria	HP:0040281	ORPHA:467166
10381	TUBB3	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0002540	Inability to walk	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0002539	Cortical dysplasia	-	OMIM:614039
10381	TUBB3	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:300570
10381	TUBB3	HP:6000709	Absent Bell phenomenon	HP:0040281	ORPHA:45358
10381	TUBB3	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:45358
10381	TUBB3	HP:0025336	Delayed ability to sit	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:45358
10381	TUBB3	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0025309	Abnormal pupil shape	HP:0040282	ORPHA:45358
10381	TUBB3	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0001332	Dystonia	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0033725	Thin corpus callosum	6/9	OMIM:614039
10381	TUBB3	HP:0001328	Specific learning disability	HP:0040283	OMIM:600638
10381	TUBB3	HP:0001339	Lissencephaly	-	OMIM:614039
10381	TUBB3	HP:0001339	Lissencephaly	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0001338	Partial agenesis of the corpus callosum	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:600638
10381	TUBB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:614039
10381	TUBB3	HP:0001302	Pachygyria	HP:0040282	ORPHA:467166
10381	TUBB3	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:467166
10381	TUBB3	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0032466	Aplasia of the olfactory bulb	HP:0040283	ORPHA:45358
10381	TUBB3	HP:0001491	Congenital fibrosis of extraocular muscles	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0001491	Congenital fibrosis of extraocular muscles	HP:0040281	ORPHA:45358
10381	TUBB3	HP:0001491	Congenital fibrosis of extraocular muscles	7/8	OMIM:600638
10381	TUBB3	HP:0001488	Bilateral ptosis	HP:0040283	ORPHA:467166
10381	TUBB3	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0001477	Compensatory chin elevation	HP:0040282	ORPHA:45358
10381	TUBB3	HP:0001477	Compensatory chin elevation	-	OMIM:600638
10381	TUBB3	HP:0008936	Axial hypotonia	8/9	OMIM:614039
10381	TUBB3	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0012110	Hypoplasia of the pons	HP:0040281	ORPHA:467166
10381	TUBB3	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0002013	Vomiting	HP:0040283	ORPHA:45358
10381	TUBB3	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:467166
10381	TUBB3	HP:0040326	Hypoplasia of the olfactory bulb	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0030903	Grasp reflex	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0002079	Hypoplasia of the corpus callosum	8/9	OMIM:614039
10381	TUBB3	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0002079	Hypoplasia of the corpus callosum	6/7	OMIM:600638
10381	TUBB3	HP:0009473	Joint contracture of the hand	HP:0040283	OMIM:600638
10381	TUBB3	HP:0003477	Peripheral axonal neuropathy	4/8	OMIM:600638
10381	TUBB3	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:467166
10381	TUBB3	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:467166
10381	TUBB3	HP:0002134	Abnormal basal ganglia morphology	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:45358
10381	TUBB3	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:45358
10381	TUBB3	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0100490	Camptodactyly of finger	HP:0040283	OMIM:600638
10381	TUBB3	HP:0003577	Congenital onset	-	OMIM:614039
10381	TUBB3	HP:0100785	Insomnia	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0007048	Large basal ganglia	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0010663	Abnormal thalamus morphology	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0010663	Abnormal thalamus morphology	HP:0040281	ORPHA:467166
10381	TUBB3	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:467166
10381	TUBB3	HP:0010628	Facial palsy	3/8	OMIM:600638
10381	TUBB3	HP:0002365	Hypoplasia of the brainstem	8/9	OMIM:614039
10381	TUBB3	HP:0002365	Hypoplasia of the brainstem	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0002363	Abnormal brainstem morphology	HP:0040281	ORPHA:467166
10381	TUBB3	HP:0002343	Normal pressure hydrocephalus	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:45358
10381	TUBB3	HP:0200055	Small hand	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0030534	Abnormal best corrected visual acuity test	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0030534	Abnormal best corrected visual acuity test	HP:0040281	ORPHA:45358
10381	TUBB3	HP:0006821	Frontal polymicrogyria	4/9	OMIM:614039
10381	TUBB3	HP:0031882	Agyria	HP:0040282	ORPHA:467166
10381	TUBB3	HP:0000639	Nystagmus	4/9	OMIM:614039
10381	TUBB3	HP:0000639	Nystagmus	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0000646	Amblyopia	HP:0040282	ORPHA:45358
10381	TUBB3	HP:0000646	Amblyopia	-	OMIM:600638
10381	TUBB3	HP:0000616	Miosis	HP:0040282	ORPHA:45358
10381	TUBB3	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:45358
10381	TUBB3	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0012697	Small basal ganglia	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0011347	Abnormality of ocular abduction	HP:0040281	ORPHA:45358
10381	TUBB3	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:467166
10381	TUBB3	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0034180	Fusion of the caudate and putamen	8/9	OMIM:614039
10381	TUBB3	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0000736	Short attention span	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0000750	Delayed speech and language development	9/9	OMIM:614039
10381	TUBB3	HP:0000712	Emotional lability	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0030588	Abnormal visual field test	HP:0040282	ORPHA:45358
10381	TUBB3	HP:0011451	Primary microcephaly	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0009380	Finger aplasia	HP:0040283	ORPHA:45358
10381	TUBB3	HP:0000286	Epicanthus	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0000256	Macrocephaly	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0000256	Macrocephaly	HP:0040283	ORPHA:467166
10381	TUBB3	HP:0012242	Superior rectus atrophy	-	OMIM:600638
10381	TUBB3	HP:0012241	Levator palpebrae superioris atrophy	HP:0040281	ORPHA:45358
10381	TUBB3	HP:0012241	Levator palpebrae superioris atrophy	-	OMIM:600638
10381	TUBB3	HP:0000252	Microcephaly	HP:0040281	ORPHA:467166
10381	TUBB3	HP:0000252	Microcephaly	1/9	OMIM:614039
10381	TUBB3	HP:0000218	High palate	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0002857	Genu valgum	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	HP:0040282	ORPHA:45358
10381	TUBB3	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	-	OMIM:600638
10381	TUBB3	HP:0005216	Impaired mastication	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0002943	Thoracic scoliosis	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0000369	Low-set ears	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0000347	Micrognathia	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0030303	Hypoplastic anterior commissure	7/8	OMIM:600638
10381	TUBB3	HP:0030302	Agenesis of the anterior commissure	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0000486	Strabismus	HP:0040282	ORPHA:467166
10381	TUBB3	HP:0000486	Strabismus	HP:0040281	ORPHA:45358
10381	TUBB3	HP:0000486	Strabismus	9/9	OMIM:614039
10381	TUBB3	HP:0000486	Strabismus	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0030211	Slow pupillary light response	HP:0040281	ORPHA:45358
10381	TUBB3	HP:0012469	Infantile spasms	HP:0040283	ORPHA:467166
10381	TUBB3	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0000473	Torticollis	HP:0040283	ORPHA:45358
10381	TUBB3	HP:0000473	Torticollis	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0012434	Delayed early-childhood social milestone development	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0001773	Short foot	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0025721	Limited vertical extraocular movement	HP:0040281	ORPHA:45358
10381	TUBB3	HP:0005469	Flat occiput	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0012502	Abnormality of the internal capsule	HP:0040281	ORPHA:467166
10381	TUBB3	HP:0000518	Cataract	HP:0040283	ORPHA:45358
10381	TUBB3	HP:0001840	Metatarsus adductus	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:45358
10381	TUBB3	HP:0000508	Ptosis	-	OMIM:600638
10381	TUBB3	HP:0000508	Ptosis	HP:0040281	ORPHA:45358
10381	TUBB3	HP:0000577	Exotropia	HP:0040281	ORPHA:45358
10381	TUBB3	HP:0000577	Exotropia	-	OMIM:600638
10381	TUBB3	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:467166
10381	TUBB3	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:45358
10381	TUBB3	HP:0000572	Visual loss	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0000570	Abnormal saccadic eye movements	HP:0040283	ORPHA:300570
10381	TUBB3	HP:0000565	Esotropia	HP:0040283	ORPHA:45358
10381	TUBB3	HP:0000565	Esotropia	HP:0040282	ORPHA:300570
10381	TUBB3	HP:0000539	Abnormality of refraction	HP:0040282	ORPHA:45358
10381	TUBB3	HP:0000542	Impaired ocular adduction	HP:0040281	ORPHA:45358
10382	TUBB4A	HP:0002465	Poor speech	-	OMIM:612438
10382	TUBB4A	HP:0003782	Eunuchoid habitus	HP:0040282	ORPHA:98805
10382	TUBB4A	HP:0002451	Limb dystonia	2/8	OMIM:128101
10382	TUBB4A	HP:0007325	Generalized dystonia	HP:0040281	ORPHA:98805
10382	TUBB4A	HP:0007325	Generalized dystonia	-	OMIM:128101
10382	TUBB4A	HP:0009938	Sunken cheeks	HP:0040282	ORPHA:98805
10382	TUBB4A	HP:0009938	Sunken cheeks	-	OMIM:128101
10382	TUBB4A	HP:0003745	Sporadic	-	OMIM:612438
10382	TUBB4A	HP:0002415	Leukodystrophy	11/11	OMIM:612438
10382	TUBB4A	HP:0001272	Cerebellar atrophy	-	OMIM:612438
10382	TUBB4A	HP:0001270	Motor delay	7/11	OMIM:612438
10382	TUBB4A	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98805
10382	TUBB4A	HP:0001250	Seizure	1/11	OMIM:612438
10382	TUBB4A	HP:0001252	Hypotonia	2/11	OMIM:612438
10382	TUBB4A	HP:0001251	Ataxia	8/11	OMIM:612438
10382	TUBB4A	HP:0001249	Intellectual disability	-	OMIM:612438
10382	TUBB4A	HP:0001266	Choreoathetosis	5/11	OMIM:612438
10382	TUBB4A	HP:0001260	Dysarthria	11/11	OMIM:612438
10382	TUBB4A	HP:0001257	Spasticity	11/11	OMIM:612438
10382	TUBB4A	HP:0007351	Upper limb postural tremor	HP:0040283	ORPHA:98805
10382	TUBB4A	HP:0012049	Laryngeal dystonia	HP:0040281	ORPHA:98805
10382	TUBB4A	HP:0001332	Dystonia	10/11	OMIM:612438
10382	TUBB4A	HP:0001328	Specific learning disability	-	OMIM:612438
10382	TUBB4A	HP:0001337	Tremor	8/11	OMIM:612438
10382	TUBB4A	HP:0000006	Autosomal dominant inheritance	-	OMIM:128101
10382	TUBB4A	HP:0000006	Autosomal dominant inheritance	-	OMIM:612438
10382	TUBB4A	HP:0001304	Torsion dystonia	-	OMIM:128101
10382	TUBB4A	HP:0000182	Movement abnormality of the tongue	HP:0040282	ORPHA:98805
10382	TUBB4A	HP:0000194	Open mouth	HP:0040282	ORPHA:98805
10382	TUBB4A	HP:0008936	Axial hypotonia	-	OMIM:612438
10382	TUBB4A	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:98805
10382	TUBB4A	HP:0002015	Dysphagia	2/8	OMIM:128101
10382	TUBB4A	HP:0002015	Dysphagia	HP:0040283	ORPHA:98805
10382	TUBB4A	HP:0002098	Respiratory distress	HP:0040283	ORPHA:98805
10382	TUBB4A	HP:0002066	Gait ataxia	-	OMIM:128101
10382	TUBB4A	HP:0002063	Rigidity	9/11	OMIM:612438
10382	TUBB4A	HP:0002075	Dysdiadochokinesis	HP:0040283	ORPHA:98805
10382	TUBB4A	HP:0003593	Infantile onset	2/11	OMIM:612438
10382	TUBB4A	HP:0032005	Hemidystonia	1/8	OMIM:128101
10382	TUBB4A	HP:0002376	Developmental regression	11/11	OMIM:612438
10382	TUBB4A	HP:0003676	Progressive	-	OMIM:612438
10382	TUBB4A	HP:0003621	Juvenile onset	3/8	OMIM:128101
10382	TUBB4A	HP:0006808	Cerebral hypomyelination	-	OMIM:612438
10382	TUBB4A	HP:0000639	Nystagmus	2/11	OMIM:612438
10382	TUBB4A	HP:0000648	Optic atrophy	-	OMIM:612438
10382	TUBB4A	HP:0000643	Blepharospasm	HP:0040283	ORPHA:98805
10382	TUBB4A	HP:0000657	Oculomotor apraxia	2/11	OMIM:612438
10382	TUBB4A	HP:0004322	Short stature	-	OMIM:612438
10382	TUBB4A	HP:0004305	Involuntary movements	HP:0040283	ORPHA:98805
10382	TUBB4A	HP:0000750	Delayed speech and language development	6/11	OMIM:612438
10382	TUBB4A	HP:0000726	Dementia	HP:0040283	ORPHA:98805
10382	TUBB4A	HP:0011463	Childhood onset	9/11	OMIM:612438
10382	TUBB4A	HP:0011462	Young adult onset	5/8	OMIM:128101
10382	TUBB4A	HP:0000275	Narrow face	-	OMIM:128101
10382	TUBB4A	HP:0000252	Microcephaly	-	OMIM:612438
10382	TUBB4A	HP:0001533	Slender build	-	OMIM:128101
10382	TUBB4A	HP:0001618	Dysphonia	HP:0040281	ORPHA:98805
10382	TUBB4A	HP:0001618	Dysphonia	6/8	OMIM:128101
10382	TUBB4A	HP:0000473	Torticollis	HP:0040282	ORPHA:98805
10382	TUBB4A	HP:0000473	Torticollis	6/8	OMIM:128101
10382	TUBB4A	HP:0000505	Visual impairment	1/11	OMIM:612438
10382	TUBB4A	HP:0000571	Hypometric saccades	2/11	OMIM:612438
10383	TUBB4B	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
10383	TUBB4B	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
10383	TUBB4B	HP:0001270	Motor delay	HP:0040283	ORPHA:65
10383	TUBB4B	HP:0001250	Seizure	HP:0040282	ORPHA:65
10383	TUBB4B	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
10383	TUBB4B	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
10383	TUBB4B	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
10383	TUBB4B	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
10383	TUBB4B	HP:0000006	Autosomal dominant inheritance	-	OMIM:617879
10383	TUBB4B	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
10383	TUBB4B	HP:0001483	Eye poking	HP:0040282	ORPHA:65
10383	TUBB4B	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
10383	TUBB4B	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
10383	TUBB4B	HP:0007663	Reduced visual acuity	6/6	OMIM:617879
10383	TUBB4B	HP:0500087	Peripapillary atrophy	1/6	OMIM:617879
10383	TUBB4B	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
10383	TUBB4B	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
10383	TUBB4B	HP:0003577	Congenital onset	3/6	OMIM:617879
10383	TUBB4B	HP:0008499	High hypermetropia	6/6	OMIM:617879
10383	TUBB4B	HP:0003621	Juvenile onset	8/19	OMIM:180100
10383	TUBB4B	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
10383	TUBB4B	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
10383	TUBB4B	HP:0000639	Nystagmus	2/6	OMIM:617879
10383	TUBB4B	HP:0000613	Photophobia	HP:0040282	ORPHA:65
10383	TUBB4B	HP:0000613	Photophobia	2/6	OMIM:617879
10383	TUBB4B	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
10383	TUBB4B	HP:0000662	Nyctalopia	26/28	OMIM:180100
10383	TUBB4B	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
10383	TUBB4B	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
10383	TUBB4B	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
10383	TUBB4B	HP:0011463	Childhood onset	3/19	OMIM:180100
10383	TUBB4B	HP:0011463	Childhood onset	3/6	OMIM:617879
10383	TUBB4B	HP:0011462	Young adult onset	8/19	OMIM:180100
10383	TUBB4B	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
10383	TUBB4B	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
10383	TUBB4B	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
10383	TUBB4B	HP:0007814	Retinal pigment epithelial mottling	2/6	OMIM:617879
10383	TUBB4B	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
10383	TUBB4B	HP:0000407	Sensorineural hearing impairment	6/6	OMIM:617879
10383	TUBB4B	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
10383	TUBB4B	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
10383	TUBB4B	HP:0000518	Cataract	HP:0040282	ORPHA:65
10383	TUBB4B	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
10383	TUBB4B	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
10383	TUBB4B	HP:0000575	Scotoma	5/18	OMIM:180100
10383	TUBB4B	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
10383	TUBB4B	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
10383	TUBB4B	HP:0000546	Retinal degeneration	-	OMIM:617879
10383	TUBB4B	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
10383	TUBB4B	HP:0000543	Optic disc pallor	1/1	OMIM:180100
10383	TUBB4B	HP:0000545	Myopia	-	OMIM:180100
10388	SYCP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:258150
10388	SYCP2	HP:0030974	Cryptozoospermia	2/4	OMIM:258150
10388	SYCP2	HP:0011462	Young adult onset	4/4	OMIM:258150
10388	SYCP2	HP:0000798	Oligozoospermia	4/4	OMIM:258150
10388	SYCP2	HP:0003251	Male infertility	4/4	OMIM:258150
10395	DLC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
10395	DLC1	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
10395	DLC1	HP:0005584	Renal cell carcinoma	-	OMIM:114500
10395	DLC1	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
10395	DLC1	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
10395	DLC1	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
10395	DLC1	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
10397	NDRG1	HP:0001171	Split hand	HP:0040283	ORPHA:99950
10397	NDRG1	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:99950
10397	NDRG1	HP:0002460	Distal muscle weakness	2/2	OMIM:601455
10397	NDRG1	HP:0007210	Lower limb amyotrophy	HP:0040282	ORPHA:99950
10397	NDRG1	HP:0003701	Proximal muscle weakness	HP:0040283	ORPHA:99950
10397	NDRG1	HP:0003701	Proximal muscle weakness	2/2	OMIM:601455
10397	NDRG1	HP:0001270	Motor delay	2/2	OMIM:601455
10397	NDRG1	HP:0001270	Motor delay	HP:0040282	ORPHA:99950
10397	NDRG1	HP:0001288	Gait disturbance	-	OMIM:601455
10397	NDRG1	HP:0001284	Areflexia	2/2	OMIM:601455
10397	NDRG1	HP:0001265	Hyporeflexia	-	OMIM:601455
10397	NDRG1	HP:0002540	Inability to walk	HP:0040283	ORPHA:99950
10397	NDRG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:601455
10397	NDRG1	HP:0008959	Distal upper limb muscle weakness	HP:0040283	ORPHA:99950
10397	NDRG1	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:99950
10397	NDRG1	HP:0002751	Kyphoscoliosis	1/2	OMIM:601455
10397	NDRG1	HP:0004696	Talipes cavus equinovarus	-	OMIM:601455
10397	NDRG1	HP:0003383	Onion bulb formation	-	OMIM:601455
10397	NDRG1	HP:0003474	Somatic sensory dysfunction	HP:0040283	ORPHA:99950
10397	NDRG1	HP:0003481	Segmental peripheral demyelination/remyelination	-	OMIM:601455
10397	NDRG1	HP:0003447	Axonal loss	-	OMIM:601455
10397	NDRG1	HP:0003431	Decreased motor nerve conduction velocity	HP:0040281	ORPHA:99950
10397	NDRG1	HP:0002174	Postural tremor	HP:0040283	ORPHA:99950
10397	NDRG1	HP:0007078	Decreased amplitude of sensory action potentials	HP:0040281	ORPHA:99950
10397	NDRG1	HP:0003693	Distal amyotrophy	1/2	OMIM:601455
10397	NDRG1	HP:0002359	Frequent falls	1/3	OMIM:601455
10397	NDRG1	HP:0002317	Unsteady gait	1/2	OMIM:601455
10397	NDRG1	HP:0002317	Unsteady gait	HP:0040282	ORPHA:99950
10397	NDRG1	HP:0007108	Demyelinating peripheral neuropathy	HP:0040281	ORPHA:99950
10397	NDRG1	HP:0006858	Impaired distal proprioception	1/1	OMIM:601455
10397	NDRG1	HP:0006886	Impaired distal vibration sensation	1/1	OMIM:601455
10397	NDRG1	HP:0000649	Abnormality of visual evoked potentials	-	OMIM:601455
10397	NDRG1	HP:0009053	Distal lower limb muscle weakness	HP:0040281	ORPHA:99950
10397	NDRG1	HP:0006958	Abnormal auditory evoked potentials	-	OMIM:601455
10397	NDRG1	HP:0006937	Impaired distal tactile sensation	1/1	OMIM:601455
10397	NDRG1	HP:0006916	Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material	-	OMIM:601455
10397	NDRG1	HP:0000762	Decreased nerve conduction velocity	2/2	OMIM:601455
10397	NDRG1	HP:0011463	Childhood onset	3/3	OMIM:601455
10397	NDRG1	HP:0009129	Upper limb amyotrophy	HP:0040283	ORPHA:99950
10397	NDRG1	HP:0034337	Claw hand deformity	2/3	OMIM:601455
10397	NDRG1	HP:0032649	Skewfoot	HP:0040283	ORPHA:99950
10397	NDRG1	HP:0002936	Distal sensory impairment	2/2	OMIM:601455
10397	NDRG1	HP:0002936	Distal sensory impairment	HP:0040283	ORPHA:99950
10397	NDRG1	HP:0000365	Hearing impairment	-	OMIM:601455
10397	NDRG1	HP:0000407	Sensorineural hearing impairment	3/3	OMIM:601455
10397	NDRG1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:99950
10397	NDRG1	HP:0001765	Hammertoe	2/3	OMIM:601455
10397	NDRG1	HP:0001765	Hammertoe	HP:0040283	ORPHA:99950
10397	NDRG1	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:99950
10397	NDRG1	HP:0001761	Pes cavus	2/2	OMIM:601455
10397	NDRG1	HP:0001761	Pes cavus	HP:0040283	ORPHA:99950
10397	NDRG1	HP:0000501	Glaucoma	2/3	OMIM:601455
10397	NDRG1	HP:0000545	Myopia	1/2	OMIM:601455
10398	MYL9	HP:0010945	Fetal pyelectasis	1/1	OMIM:619365
10398	MYL9	HP:0000021	Megacystis	1/1	OMIM:619365
10398	MYL9	HP:0000010	Recurrent urinary tract infections	1/1	OMIM:619365
10398	MYL9	HP:0000007	Autosomal recessive inheritance	-	OMIM:619365
10398	MYL9	HP:0002205	Recurrent respiratory infections	1/1	OMIM:619365
10398	MYL9	HP:0100771	Hypoperistalsis	1/1	OMIM:619365
10398	MYL9	HP:0011499	Mydriasis	1/1	OMIM:619365
10398	MYL9	HP:0012762	Cerebral white matter atrophy	1/1	OMIM:619365
10398	MYL9	HP:0000787	Nephrolithiasis	1/1	OMIM:619365
10398	MYL9	HP:0003270	Abdominal distention	1/1	OMIM:619365
10398	MYL9	HP:0001562	Oligohydramnios	1/1	OMIM:619365
10413	YAP1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1473
10413	YAP1	HP:0001249	Intellectual disability	6/6	OMIM:120433
10413	YAP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:120433
10413	YAP1	HP:0000175	Cleft palate	5/13	OMIM:120433
10413	YAP1	HP:0003577	Congenital onset	13/13	OMIM:120433
10413	YAP1	HP:0000639	Nystagmus	HP:0040283	ORPHA:1473
10413	YAP1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1473
10413	YAP1	HP:0000612	Iris coloboma	HP:0040282	ORPHA:1473
10413	YAP1	HP:0000612	Iris coloboma	9/11	OMIM:120433
10413	YAP1	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:1473
10413	YAP1	HP:0000790	Hematuria	HP:0040282	ORPHA:1473
10413	YAP1	HP:0000790	Hematuria	4/7	OMIM:120433
10413	YAP1	HP:0100337	Bilateral cleft palate	HP:0040282	ORPHA:1473
10413	YAP1	HP:0000204	Cleft upper lip	4/13	OMIM:120433
10413	YAP1	HP:0000365	Hearing impairment	10/11	OMIM:120433
10413	YAP1	HP:0007957	Corneal opacity	HP:0040283	ORPHA:1473
10413	YAP1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:1473
10413	YAP1	HP:0000486	Strabismus	HP:0040283	ORPHA:1473
10413	YAP1	HP:0000518	Cataract	4/10	OMIM:120433
10413	YAP1	HP:0000518	Cataract	HP:0040283	ORPHA:1473
10413	YAP1	HP:0000508	Ptosis	HP:0040283	ORPHA:1473
10413	YAP1	HP:0000505	Visual impairment	HP:0040283	ORPHA:1473
10413	YAP1	HP:0000501	Glaucoma	HP:0040283	ORPHA:1473
10413	YAP1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:1473
10413	YAP1	HP:0000568	Microphthalmia	8/11	OMIM:120433
10413	YAP1	HP:0000567	Chorioretinal coloboma	8/10	OMIM:120433
10413	YAP1	HP:0000567	Chorioretinal coloboma	HP:0040281	ORPHA:1473
10413	YAP1	HP:0000541	Retinal detachment	HP:0040283	ORPHA:1473
10430	TMEM147	HP:0001270	Motor delay	23/23	OMIM:620075
10430	TMEM147	HP:0001252	Hypotonia	3/23	OMIM:620075
10430	TMEM147	HP:0001249	Intellectual disability	21/21	OMIM:620075
10430	TMEM147	HP:0033725	Thin corpus callosum	10/18	OMIM:620075
10430	TMEM147	HP:0001344	Absent speech	8/22	OMIM:620075
10430	TMEM147	HP:0000007	Autosomal recessive inheritance	-	OMIM:620075
10430	TMEM147	HP:0001335	Bimanual synkinesia	1/23	OMIM:620075
10430	TMEM147	HP:0000179	Thick lower lip vermilion	1/22	OMIM:620075
10430	TMEM147	HP:0000154	Wide mouth	7/22	OMIM:620075
10430	TMEM147	HP:0012104	Parietal cortical atrophy	2/18	OMIM:620075
10430	TMEM147	HP:0002751	Kyphoscoliosis	1/22	OMIM:620075
10430	TMEM147	HP:0002188	Delayed CNS myelination	-	OMIM:620075
10430	TMEM147	HP:0100716	Self-injurious behavior	2/22	OMIM:620075
10430	TMEM147	HP:0002212	Curly hair	2/22	OMIM:620075
10430	TMEM147	HP:0010804	Tented upper lip vermilion	11/22	OMIM:620075
10430	TMEM147	HP:0004209	Clinodactyly of the 5th finger	2/22	OMIM:620075
10430	TMEM147	HP:0000664	Synophrys	7/22	OMIM:620075
10430	TMEM147	HP:0006956	Lateral ventricle dilatation	3/18	OMIM:620075
10430	TMEM147	HP:0031936	Delayed ability to walk	21/21	OMIM:620075
10430	TMEM147	HP:0000752	Hyperactivity	6/22	OMIM:620075
10430	TMEM147	HP:0000739	Anxiety	2/22	OMIM:620075
10430	TMEM147	HP:0000750	Delayed speech and language development	23/23	OMIM:620075
10430	TMEM147	HP:0000718	Aggressive behavior	2/22	OMIM:620075
10430	TMEM147	HP:0011447	Hyposegmentation of neutrophil nuclei	-	OMIM:620075
10430	TMEM147	HP:0034295	Reduced cerebral white matter volume	1/18	OMIM:620075
10430	TMEM147	HP:0045075	Sparse eyebrow	8/44	OMIM:620075
10430	TMEM147	HP:0000954	Single transverse palmar crease	3/22	OMIM:620075
10430	TMEM147	HP:0008070	Sparse hair	2/22	OMIM:620075
10430	TMEM147	HP:0000286	Epicanthus	9/22	OMIM:620075
10430	TMEM147	HP:0000280	Coarse facial features	15/22	OMIM:620075
10430	TMEM147	HP:0000276	Long face	4/22	OMIM:620075
10430	TMEM147	HP:0000219	Thin upper lip vermilion	5/22	OMIM:620075
10430	TMEM147	HP:0000232	Everted lower lip vermilion	2/22	OMIM:620075
10430	TMEM147	HP:0000369	Low-set ears	1/22	OMIM:620075
10430	TMEM147	HP:0000343	Long philtrum	11/22	OMIM:620075
10430	TMEM147	HP:0032792	Tonic seizure	2/23	OMIM:620075
10430	TMEM147	HP:0000319	Smooth philtrum	9/22	OMIM:620075
10430	TMEM147	HP:0000316	Hypertelorism	3/22	OMIM:620075
10430	TMEM147	HP:0001655	Patent foramen ovale	2/22	OMIM:620075
10430	TMEM147	HP:0001631	Atrial septal defect	1/22	OMIM:620075
10430	TMEM147	HP:0000407	Sensorineural hearing impairment	1/23	OMIM:620075
10430	TMEM147	HP:0005280	Depressed nasal bridge	9/22	OMIM:620075
10430	TMEM147	HP:0000494	Downslanted palpebral fissures	4/22	OMIM:620075
10430	TMEM147	HP:0011220	Prominent forehead	12/22	OMIM:620075
10436	EMG1	HP:0001250	Seizure	HP:0040283	ORPHA:1270
10436	EMG1	HP:0001367	Abnormal joint morphology	-	OMIM:211180
10436	EMG1	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1270
10436	EMG1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1270
10436	EMG1	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:1270
10436	EMG1	HP:0008850	Severe postnatal growth retardation	HP:0040281	ORPHA:1270
10436	EMG1	HP:0008846	Severe intrauterine growth retardation	HP:0040282	ORPHA:1270
10436	EMG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:211180
10436	EMG1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:1270
10436	EMG1	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:1270
10436	EMG1	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:1270
10436	EMG1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:211180
10436	EMG1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1270
10436	EMG1	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:1270
10436	EMG1	HP:0004322	Short stature	HP:0040281	ORPHA:1270
10436	EMG1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:1270
10436	EMG1	HP:0000252	Microcephaly	-	OMIM:211180
10436	EMG1	HP:0000252	Microcephaly	HP:0040281	ORPHA:1270
10436	EMG1	HP:0001522	Death in infancy	HP:0040281	ORPHA:1270
10436	EMG1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:1270
10436	EMG1	HP:0001518	Small for gestational age	-	OMIM:211180
10436	EMG1	HP:0000340	Sloping forehead	HP:0040281	ORPHA:1270
10436	EMG1	HP:0000347	Micrognathia	-	OMIM:211180
10436	EMG1	HP:0000347	Micrognathia	HP:0040281	ORPHA:1270
10436	EMG1	HP:0000448	Prominent nose	HP:0040281	ORPHA:1270
10436	EMG1	HP:0000448	Prominent nose	-	OMIM:211180
10436	EMG1	HP:0001838	Rocker bottom foot	HP:0040282	ORPHA:1270
10436	EMG1	HP:0001838	Rocker bottom foot	-	OMIM:211180
10452	TOMM40	HP:0002463	Language impairment	HP:0040281	ORPHA:1020
10452	TOMM40	HP:0003791	Deposits immunoreactive to beta-amyloid protein	HP:0040281	ORPHA:1020
10452	TOMM40	HP:0001276	Hypertonia	HP:0040281	ORPHA:1020
10452	TOMM40	HP:0001289	Confusion	HP:0040281	ORPHA:1020
10452	TOMM40	HP:0001250	Seizure	HP:0040281	ORPHA:1020
10452	TOMM40	HP:0001251	Ataxia	HP:0040283	ORPHA:1020
10452	TOMM40	HP:0001249	Intellectual disability	HP:0040283	ORPHA:1020
10452	TOMM40	HP:0001336	Myoclonus	HP:0040281	ORPHA:1020
10452	TOMM40	HP:0001300	Parkinsonism	HP:0040281	ORPHA:1020
10452	TOMM40	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1020
10452	TOMM40	HP:0002186	Apraxia	HP:0040283	ORPHA:1020
10452	TOMM40	HP:0002185	Neurofibrillary tangles	HP:0040281	ORPHA:1020
10452	TOMM40	HP:0010526	Dysgraphia	HP:0040283	ORPHA:1020
10452	TOMM40	HP:0010525	Finger agnosia	HP:0040283	ORPHA:1020
10452	TOMM40	HP:0002381	Aphasia	HP:0040283	ORPHA:1020
10452	TOMM40	HP:0002354	Memory impairment	HP:0040281	ORPHA:1020
10452	TOMM40	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:1020
10452	TOMM40	HP:0000738	Hallucinations	HP:0040281	ORPHA:1020
10452	TOMM40	HP:0000734	Disinhibition	HP:0040282	ORPHA:1020
10452	TOMM40	HP:0000713	Agitation	HP:0040281	ORPHA:1020
10452	TOMM40	HP:0000726	Dementia	HP:0040281	ORPHA:1020
10452	TOMM40	HP:0011446	Abnormality of mental function	HP:0040283	ORPHA:1020
10452	TOMM40	HP:0012759	Neurodevelopmental abnormality	HP:0040281	ORPHA:1020
10452	TOMM40	HP:0030219	Semantic dementia	HP:0040283	ORPHA:1020
10452	TOMM40	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:1020
10452	TOMM40	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1020
10456	HAX1	HP:0002495	Impaired vibratory sensation	1/2	OMIM:610738
10456	HAX1	HP:0001250	Seizure	2/8	OMIM:610738
10456	HAX1	HP:0001249	Intellectual disability	2/2	OMIM:610738
10456	HAX1	HP:0001263	Global developmental delay	3/8	OMIM:610738
10456	HAX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:610738
10456	HAX1	HP:0002718	Recurrent bacterial infections	6/6	OMIM:610738
10456	HAX1	HP:0003593	Infantile onset	5/6	OMIM:610738
10456	HAX1	HP:0002312	Clumsiness	2/2	OMIM:610738
10456	HAX1	HP:0011463	Childhood onset	1/6	OMIM:610738
10456	HAX1	HP:0002863	Myelodysplasia	1/6	OMIM:610738
10456	HAX1	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:610738
10456	HAX1	HP:0000405	Conductive hearing impairment	1/2	OMIM:610738
10456	HAX1	HP:0006721	Acute lymphoblastic leukemia	1/6	OMIM:610738
10456	HAX1	HP:0001875	Decreased total neutrophil count	2/2	OMIM:610738
10457	GPNMB	HP:0007440	Generalized hyperpigmentation	9/9	OMIM:617920
10457	GPNMB	HP:0000007	Autosomal recessive inheritance	-	OMIM:617920
10457	GPNMB	HP:0020073	Hypopigmented macule	9/9	OMIM:617920
10457	GPNMB	HP:0001034	Hypermelanotic macule	-	OMIM:617920
10457	GPNMB	HP:0003621	Juvenile onset	6/9	OMIM:617920
10457	GPNMB	HP:0011463	Childhood onset	3/9	OMIM:617920
10457	GPNMB	HP:0000992	Cutaneous photosensitivity	0/9	OMIM:617920
10457	GPNMB	HP:0000989	Pruritus	2/9	OMIM:617920
10457	GPNMB	HP:0000958	Dry skin	9/9	OMIM:617920
10459	MAD2L2	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
10459	MAD2L2	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
10459	MAD2L2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
10459	MAD2L2	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
10459	MAD2L2	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
10459	MAD2L2	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
10459	MAD2L2	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617243
10459	MAD2L2	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
10459	MAD2L2	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0006254	Elevated circulating alpha-fetoprotein concentration	1/1	OMIM:617243
10459	MAD2L2	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0010469	Absent testis	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
10459	MAD2L2	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
10459	MAD2L2	HP:0005528	Bone marrow hypocellularity	1/1	OMIM:617243
10459	MAD2L2	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
10459	MAD2L2	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001903	Anemia	1/1	OMIM:617243
10459	MAD2L2	HP:0001903	Anemia	HP:0040281	ORPHA:84
10459	MAD2L2	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0004322	Short stature	HP:0040281	ORPHA:84
10459	MAD2L2	HP:0004322	Short stature	1/1	OMIM:617243
10459	MAD2L2	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
10459	MAD2L2	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0011463	Childhood onset	1/1	OMIM:617243
10459	MAD2L2	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
10459	MAD2L2	HP:0003221	Chromosomal breakage induced by crosslinking agents	1/1	OMIM:617243
10459	MAD2L2	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
10459	MAD2L2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
10459	MAD2L2	HP:0000252	Microcephaly	1/1	OMIM:617243
10459	MAD2L2	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
10459	MAD2L2	HP:0000218	High palate	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001510	Growth delay	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
10459	MAD2L2	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
10459	MAD2L2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
10459	MAD2L2	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000486	Strabismus	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001763	Pes planus	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000518	Cataract	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000520	Proptosis	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001824	Weight loss	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000508	Ptosis	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
10459	MAD2L2	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
10459	MAD2L2	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
10459	MAD2L2	HP:0001873	Thrombocytopenia	1/1	OMIM:617243
10459	MAD2L2	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
10459	MAD2L2	HP:0001875	Decreased total neutrophil count	1/1	OMIM:617243
10461	MERTK	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
10461	MERTK	HP:0001133	Constriction of peripheral visual field	2/2	OMIM:613862
10461	MERTK	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
10461	MERTK	HP:0007401	Macular atrophy	-	OMIM:613862
10461	MERTK	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
10461	MERTK	HP:0000007	Autosomal recessive inheritance	-	OMIM:613862
10461	MERTK	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
10461	MERTK	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
10461	MERTK	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
10461	MERTK	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
10461	MERTK	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
10461	MERTK	HP:0200070	Peripheral retinal atrophy	-	OMIM:613862
10461	MERTK	HP:0003621	Juvenile onset	8/19	OMIM:180100
10461	MERTK	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
10461	MERTK	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
10461	MERTK	HP:0000618	Blindness	HP:0040281	ORPHA:791
10461	MERTK	HP:0000613	Photophobia	HP:0040281	ORPHA:791
10461	MERTK	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
10461	MERTK	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
10461	MERTK	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
10461	MERTK	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
10461	MERTK	HP:0000662	Nyctalopia	2/2	OMIM:613862
10461	MERTK	HP:0000662	Nyctalopia	26/28	OMIM:180100
10461	MERTK	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
10461	MERTK	HP:0011463	Childhood onset	3/19	OMIM:180100
10461	MERTK	HP:0011463	Childhood onset	2/2	OMIM:613862
10461	MERTK	HP:0011462	Young adult onset	8/19	OMIM:180100
10461	MERTK	HP:0030786	Photopsia	HP:0040283	ORPHA:791
10461	MERTK	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
10461	MERTK	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
10461	MERTK	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
10461	MERTK	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
10461	MERTK	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
10461	MERTK	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
10461	MERTK	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
10461	MERTK	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
10461	MERTK	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
10461	MERTK	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
10461	MERTK	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
10461	MERTK	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
10461	MERTK	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
10461	MERTK	HP:0000510	Rod-cone dystrophy	2/2	OMIM:613862
10461	MERTK	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
10461	MERTK	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
10461	MERTK	HP:0000529	Progressive visual loss	2/2	OMIM:613862
10461	MERTK	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
10461	MERTK	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
10461	MERTK	HP:0000575	Scotoma	5/18	OMIM:180100
10461	MERTK	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
10461	MERTK	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
10461	MERTK	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
10461	MERTK	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
10461	MERTK	HP:0000543	Optic disc pallor	-	OMIM:613862
10461	MERTK	HP:0000543	Optic disc pallor	1/1	OMIM:180100
10461	MERTK	HP:0000545	Myopia	-	OMIM:180100
10463	SLC30A9	HP:0001195	Single umbilical artery	1/1	OMIM:617595
10463	SLC30A9	HP:0032232	Increased circulating creatine kinase MB isoform	1/1	OMIM:617595
10463	SLC30A9	HP:0001274	Agenesis of corpus callosum	1/1	OMIM:617595
10463	SLC30A9	HP:0001288	Gait disturbance	-	OMIM:617595
10463	SLC30A9	HP:0001266	Choreoathetosis	6/6	OMIM:617595
10463	SLC30A9	HP:0001263	Global developmental delay	6/6	OMIM:617595
10463	SLC30A9	HP:0002509	Limb hypertonia	6/7	OMIM:617595
10463	SLC30A9	HP:0000089	Renal hypoplasia	1/1	OMIM:617595
10463	SLC30A9	HP:0000083	Renal insufficiency	4/6	OMIM:617595
10463	SLC30A9	HP:0001332	Dystonia	7/7	OMIM:617595
10463	SLC30A9	HP:0000007	Autosomal recessive inheritance	-	OMIM:617595
10463	SLC30A9	HP:0001302	Pachygyria	1/1	OMIM:617595
10463	SLC30A9	HP:0002643	Neonatal respiratory distress	1/1	OMIM:617595
10463	SLC30A9	HP:0008936	Axial hypotonia	7/7	OMIM:617595
10463	SLC30A9	HP:0002070	Limb ataxia	6/6	OMIM:617595
10463	SLC30A9	HP:0100595	Camptocormia	6/7	OMIM:617595
10463	SLC30A9	HP:0002153	Hyperkalemia	4/6	OMIM:617595
10463	SLC30A9	HP:0004719	Hyperechogenic kidneys	4/4	OMIM:617595
10463	SLC30A9	HP:0003593	Infantile onset	2/6	OMIM:617595
10463	SLC30A9	HP:0100702	Arachnoid cyst	1/1	OMIM:617595
10463	SLC30A9	HP:0011968	Feeding difficulties	1/1	OMIM:617595
10463	SLC30A9	HP:0002376	Developmental regression	6/6	OMIM:617595
10463	SLC30A9	HP:0100660	Dyskinesia	6/6	OMIM:617595
10463	SLC30A9	HP:0003621	Juvenile onset	1/6	OMIM:617595
10463	SLC30A9	HP:0001970	Tubulointerstitial nephritis	1/1	OMIM:617595
10463	SLC30A9	HP:0012625	Stage 3 chronic kidney disease	1/1	OMIM:617595
10463	SLC30A9	HP:0000648	Optic atrophy	1/1	OMIM:617595
10463	SLC30A9	HP:0011344	Severe global developmental delay	1/1	OMIM:617595
10463	SLC30A9	HP:0000657	Oculomotor apraxia	6/6	OMIM:617595
10463	SLC30A9	HP:0000750	Delayed speech and language development	6/6	OMIM:617595
10463	SLC30A9	HP:0011463	Childhood onset	3/6	OMIM:617595
10463	SLC30A9	HP:0011461	Fetal onset	1/1	OMIM:617595
10463	SLC30A9	HP:0000822	Hypertension	4/4	OMIM:617595
10463	SLC30A9	HP:0000297	Facial hypotonia	1/1	OMIM:617595
10463	SLC30A9	HP:0000252	Microcephaly	1/1	OMIM:617595
10463	SLC30A9	HP:0001531	Failure to thrive in infancy	1/1	OMIM:617595
10463	SLC30A9	HP:0001511	Intrauterine growth retardation	1/1	OMIM:617595
10463	SLC30A9	HP:0001510	Growth delay	1/1	OMIM:617595
10463	SLC30A9	HP:0012389	Appendicular hypotonia	0/1	OMIM:617595
10463	SLC30A9	HP:0000408	Progressive sensorineural hearing impairment	1/1	OMIM:617595
10463	SLC30A9	HP:0000486	Strabismus	3/3	OMIM:617595
10463	SLC30A9	HP:0000527	Long eyelashes	1/1	OMIM:617595
10463	SLC30A9	HP:0000508	Ptosis	4/4	OMIM:617595
10463	SLC30A9	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:617595
10464	PIBF1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
10464	PIBF1	HP:0001159	Syndactyly	1/6	OMIM:617767
10464	PIBF1	HP:0002419	Molar tooth sign on MRI	3/5	OMIM:617767
10464	PIBF1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
10464	PIBF1	HP:0001250	Seizure	HP:0040283	ORPHA:475
10464	PIBF1	HP:0001252	Hypotonia	1/6	OMIM:617767
10464	PIBF1	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
10464	PIBF1	HP:0001251	Ataxia	HP:0040281	ORPHA:475
10464	PIBF1	HP:0001251	Ataxia	4/5	OMIM:617767
10464	PIBF1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
10464	PIBF1	HP:0001263	Global developmental delay	5/5	OMIM:617767
10464	PIBF1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
10464	PIBF1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
10464	PIBF1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
10464	PIBF1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
10464	PIBF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617767
10464	PIBF1	HP:0001337	Tremor	HP:0040283	ORPHA:475
10464	PIBF1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
10464	PIBF1	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
10464	PIBF1	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
10464	PIBF1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
10464	PIBF1	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
10464	PIBF1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
10464	PIBF1	HP:0002104	Apnea	HP:0040281	ORPHA:475
10464	PIBF1	HP:0002104	Apnea	2/5	OMIM:617767
10464	PIBF1	HP:0002188	Delayed CNS myelination	2/6	OMIM:617767
10464	PIBF1	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
10464	PIBF1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
10464	PIBF1	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
10464	PIBF1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
10464	PIBF1	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
10464	PIBF1	HP:0000657	Oculomotor apraxia	3/5	OMIM:617767
10464	PIBF1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
10464	PIBF1	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
10464	PIBF1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
10464	PIBF1	HP:0000256	Macrocephaly	1/6	OMIM:617767
10464	PIBF1	HP:0000276	Long face	HP:0040282	ORPHA:475
10464	PIBF1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
10464	PIBF1	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
10464	PIBF1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
10464	PIBF1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
10464	PIBF1	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
10464	PIBF1	HP:0000486	Strabismus	HP:0040283	ORPHA:475
10464	PIBF1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
10464	PIBF1	HP:0001744	Splenomegaly	0/6	OMIM:617767
10464	PIBF1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
10464	PIBF1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
10464	PIBF1	HP:0000508	Ptosis	HP:0040283	ORPHA:475
10464	PIBF1	HP:0000548	Cone/cone-rod dystrophy	0/6	OMIM:617767
10466	COG5	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:263487
10466	COG5	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:263487
10466	COG5	HP:0001272	Cerebellar atrophy	2/7	OMIM:613612
10466	COG5	HP:0001270	Motor delay	7/7	OMIM:613612
10466	COG5	HP:0001270	Motor delay	HP:0040281	ORPHA:263487
10466	COG5	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:263487
10466	COG5	HP:0001250	Seizure	HP:0040283	ORPHA:263487
10466	COG5	HP:0001252	Hypotonia	7/7	OMIM:613612
10466	COG5	HP:0001249	Intellectual disability	7/7	OMIM:613612
10466	COG5	HP:0007366	Atrophy/Degeneration affecting the brainstem	HP:0040283	ORPHA:263487
10466	COG5	HP:0007366	Atrophy/Degeneration affecting the brainstem	-	OMIM:613612
10466	COG5	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:263487
10466	COG5	HP:0000054	Micropenis	HP:0040283	ORPHA:263487
10466	COG5	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:263487
10466	COG5	HP:0001348	Brisk reflexes	HP:0040283	ORPHA:263487
10466	COG5	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:263487
10466	COG5	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:263487
10466	COG5	HP:0000011	Neurogenic bladder	2/7	OMIM:613612
10466	COG5	HP:0000007	Autosomal recessive inheritance	-	OMIM:613612
10466	COG5	HP:0008947	Floppy infant	HP:0040281	ORPHA:263487
10466	COG5	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:263487
10466	COG5	HP:0002078	Truncal ataxia	HP:0040283	ORPHA:263487
10466	COG5	HP:0002078	Truncal ataxia	-	OMIM:613612
10466	COG5	HP:0002059	Cerebral atrophy	1/7	OMIM:613612
10466	COG5	HP:0009473	Joint contracture of the hand	HP:0040283	ORPHA:263487
10466	COG5	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:263487
10466	COG5	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:263487
10466	COG5	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:263487
10466	COG5	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:263487
10466	COG5	HP:0100678	Premature skin wrinkling	HP:0040283	ORPHA:263487
10466	COG5	HP:0004322	Short stature	HP:0040282	ORPHA:263487
10466	COG5	HP:0004322	Short stature	5/7	OMIM:613612
10466	COG5	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:263487
10466	COG5	HP:0000750	Delayed speech and language development	7/7	OMIM:613612
10466	COG5	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:263487
10466	COG5	HP:0000729	Autistic behavior	HP:0040283	ORPHA:263487
10466	COG5	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:263487
10466	COG5	HP:0012762	Cerebral white matter atrophy	HP:0040283	ORPHA:263487
10466	COG5	HP:0003160	Abnormal isoelectric focusing of serum transferrin	HP:0040283	ORPHA:263487
10466	COG5	HP:0040019	Finger clinodactyly	HP:0040283	ORPHA:263487
10466	COG5	HP:0000278	Retrognathia	HP:0040283	ORPHA:263487
10466	COG5	HP:0000252	Microcephaly	HP:0040282	ORPHA:263487
10466	COG5	HP:0000252	Microcephaly	6/7	OMIM:613612
10466	COG5	HP:0000218	High palate	HP:0040283	ORPHA:263487
10466	COG5	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:263487
10466	COG5	HP:0002857	Genu valgum	HP:0040283	ORPHA:263487
10466	COG5	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:263487
10466	COG5	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:263487
10466	COG5	HP:0000365	Hearing impairment	2/7	OMIM:613612
10466	COG5	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:263487
10466	COG5	HP:0000369	Low-set ears	HP:0040282	ORPHA:263487
10466	COG5	HP:0012301	Type II transferrin isoform profile	-	OMIM:613612
10466	COG5	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:263487
10466	COG5	HP:0000486	Strabismus	HP:0040283	ORPHA:263487
10466	COG5	HP:0012448	Delayed myelination	HP:0040283	ORPHA:263487
10466	COG5	HP:0012444	Brain atrophy	HP:0040283	ORPHA:263487
10466	COG5	HP:0000470	Short neck	HP:0040283	ORPHA:263487
10466	COG5	HP:0000448	Prominent nose	HP:0040282	ORPHA:263487
10466	COG5	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:263487
10466	COG5	HP:0000599	Abnormality of the frontal hairline	HP:0040283	ORPHA:263487
10472	ZBTB18	HP:0010945	Fetal pyelectasis	1/1	OMIM:612337
10472	ZBTB18	HP:0010864	Intellectual disability, severe	1/1	OMIM:612337
10472	ZBTB18	HP:0003763	Bruxism	1/1	OMIM:612337
10472	ZBTB18	HP:0001290	Generalized hypotonia	-	OMIM:612337
10472	ZBTB18	HP:0001274	Agenesis of corpus callosum	-	OMIM:612337
10472	ZBTB18	HP:0001250	Seizure	HP:0040281	ORPHA:36367
10472	ZBTB18	HP:0001250	Seizure	-	OMIM:612337
10472	ZBTB18	HP:0001252	Hypotonia	-	OMIM:612337
10472	ZBTB18	HP:0001249	Intellectual disability	HP:0040281	ORPHA:36367
10472	ZBTB18	HP:0001249	Intellectual disability	-	OMIM:612337
10472	ZBTB18	HP:0001263	Global developmental delay	HP:0040281	ORPHA:36367
10472	ZBTB18	HP:0001263	Global developmental delay	1/1	OMIM:612337
10472	ZBTB18	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040281	ORPHA:36367
10472	ZBTB18	HP:0002553	Highly arched eyebrow	1/1	OMIM:612337
10472	ZBTB18	HP:0001344	Absent speech	-	OMIM:612337
10472	ZBTB18	HP:0000006	Autosomal dominant inheritance	-	OMIM:612337
10472	ZBTB18	HP:0012171	Stereotypical hand wringing	1/1	OMIM:612337
10472	ZBTB18	HP:0002020	Gastroesophageal reflux	1/1	OMIM:612337
10472	ZBTB18	HP:0002121	Generalized non-motor (absence) seizure	1/1	OMIM:612337
10472	ZBTB18	HP:0002190	Choroid plexus cyst	1/1	OMIM:612337
10472	ZBTB18	HP:0003593	Infantile onset	1/1	OMIM:612337
10472	ZBTB18	HP:0011968	Feeding difficulties	1/1	OMIM:612337
10472	ZBTB18	HP:0003508	Proportionate short stature	1/1	OMIM:612337
10472	ZBTB18	HP:0002376	Developmental regression	1/1	OMIM:612337
10472	ZBTB18	HP:0004322	Short stature	HP:0040281	ORPHA:36367
10472	ZBTB18	HP:0004322	Short stature	1/1	OMIM:612337
10472	ZBTB18	HP:0012745	Short palpebral fissure	1/1	OMIM:612337
10472	ZBTB18	HP:0000750	Delayed speech and language development	1/1	OMIM:612337
10472	ZBTB18	HP:0003189	Long nose	1/1	OMIM:612337
10472	ZBTB18	HP:0000286	Epicanthus	-	OMIM:612337
10472	ZBTB18	HP:0000286	Epicanthus	HP:0040281	ORPHA:36367
10472	ZBTB18	HP:0000252	Microcephaly	HP:0040281	ORPHA:36367
10472	ZBTB18	HP:0000252	Microcephaly	1/1	OMIM:612337
10472	ZBTB18	HP:0000219	Thin upper lip vermilion	-	OMIM:612337
10472	ZBTB18	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:36367
10472	ZBTB18	HP:0001511	Intrauterine growth retardation	1/1	OMIM:612337
10472	ZBTB18	HP:0001510	Growth delay	-	OMIM:612337
10472	ZBTB18	HP:0000377	Abnormal pinna morphology	-	OMIM:612337
10472	ZBTB18	HP:0001611	Hypernasal speech	1/1	OMIM:612337
10472	ZBTB18	HP:0000369	Low-set ears	-	OMIM:612337
10472	ZBTB18	HP:0000369	Low-set ears	HP:0040281	ORPHA:36367
10472	ZBTB18	HP:0000347	Micrognathia	-	OMIM:612337
10472	ZBTB18	HP:0000347	Micrognathia	HP:0040281	ORPHA:36367
10472	ZBTB18	HP:0000319	Smooth philtrum	HP:0040281	ORPHA:36367
10472	ZBTB18	HP:0000319	Smooth philtrum	-	OMIM:612337
10472	ZBTB18	HP:0000316	Hypertelorism	-	OMIM:612337
10472	ZBTB18	HP:0000316	Hypertelorism	HP:0040281	ORPHA:36367
10472	ZBTB18	HP:0000311	Round face	HP:0040281	ORPHA:36367
10472	ZBTB18	HP:0000311	Round face	-	OMIM:612337
10472	ZBTB18	HP:0000322	Short philtrum	1/1	OMIM:612337
10472	ZBTB18	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:36367
10472	ZBTB18	HP:0005280	Depressed nasal bridge	-	OMIM:612337
10472	ZBTB18	HP:0000506	Telecanthus	1/1	OMIM:612337
10472	ZBTB18	HP:0011220	Prominent forehead	HP:0040281	ORPHA:36367
10472	ZBTB18	HP:0011220	Prominent forehead	-	OMIM:612337
10479	SLC9A6	HP:0001181	Adducted thumb	-	OMIM:300243
10479	SLC9A6	HP:0001181	Adducted thumb	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0002487	Hyperkinetic movements	5/11	OMIM:300243
10479	SLC9A6	HP:0002487	Hyperkinetic movements	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0010864	Intellectual disability, severe	-	OMIM:300243
10479	SLC9A6	HP:0001290	Generalized hypotonia	-	OMIM:300243
10479	SLC9A6	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0001272	Cerebellar atrophy	3/7	OMIM:300243
10479	SLC9A6	HP:0001250	Seizure	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0001250	Seizure	11/11	OMIM:300243
10479	SLC9A6	HP:0001252	Hypotonia	-	OMIM:300243
10479	SLC9A6	HP:0001251	Ataxia	11/11	OMIM:300243
10479	SLC9A6	HP:0001238	Slender finger	-	OMIM:300243
10479	SLC9A6	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0002529	Neuronal loss in central nervous system	HP:0040281	ORPHA:85278
10479	SLC9A6	HP:0002529	Neuronal loss in central nervous system	-	OMIM:300243
10479	SLC9A6	HP:0001371	Flexion contracture	-	OMIM:300243
10479	SLC9A6	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:85278
10479	SLC9A6	HP:0000020	Urinary incontinence	-	OMIM:300243
10479	SLC9A6	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0001344	Absent speech	HP:0040281	ORPHA:85278
10479	SLC9A6	HP:0001344	Absent speech	11/11	OMIM:300243
10479	SLC9A6	HP:0002650	Scoliosis	HP:0040283	ORPHA:85278
10479	SLC9A6	HP:0002607	Bowel incontinence	-	OMIM:300243
10479	SLC9A6	HP:0000194	Open mouth	6/7	OMIM:300243
10479	SLC9A6	HP:0000194	Open mouth	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0001419	X-linked recessive inheritance	-	OMIM:300243
10479	SLC9A6	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0002019	Constipation	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0002015	Dysphagia	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0002015	Dysphagia	5/11	OMIM:300243
10479	SLC9A6	HP:0002066	Gait ataxia	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0002078	Truncal ataxia	-	OMIM:300243
10479	SLC9A6	HP:0002078	Truncal ataxia	HP:0040281	ORPHA:85278
10479	SLC9A6	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0002187	Intellectual disability, profound	HP:0040281	ORPHA:85278
10479	SLC9A6	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:85278
10479	SLC9A6	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0200134	Epileptic encephalopathy	HP:0040283	ORPHA:85278
10479	SLC9A6	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0002360	Sleep abnormality	2/7	OMIM:300243
10479	SLC9A6	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:85278
10479	SLC9A6	HP:0002376	Developmental regression	HP:0040281	ORPHA:85278
10479	SLC9A6	HP:0002353	EEG abnormality	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0007207	Photosensitive tonic-clonic seizure	-	OMIM:300243
10479	SLC9A6	HP:0002300	Mutism	-	OMIM:300243
10479	SLC9A6	HP:0002300	Mutism	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0002307	Drooling	6/7	OMIM:300243
10479	SLC9A6	HP:0002307	Drooling	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0006887	Intellectual disability, progressive	-	OMIM:300243
10479	SLC9A6	HP:0000639	Nystagmus	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0000602	Ophthalmoplegia	-	OMIM:300243
10479	SLC9A6	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:85278
10479	SLC9A6	HP:0004325	Decreased body weight	-	OMIM:300243
10479	SLC9A6	HP:0004326	Cachexia	HP:0040281	ORPHA:85278
10479	SLC9A6	HP:0012736	Profound global developmental delay	11/11	OMIM:300243
10479	SLC9A6	HP:0100024	Conspicuously happy disposition	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0000748	Inappropriate laughter	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0000717	Autism	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0000774	Narrow chest	-	OMIM:300243
10479	SLC9A6	HP:0003199	Decreased muscle mass	HP:0040283	ORPHA:85278
10479	SLC9A6	HP:0003189	Long nose	-	OMIM:300243
10479	SLC9A6	HP:0040082	Happy demeanor	-	OMIM:300243
10479	SLC9A6	HP:0003202	Skeletal muscle atrophy	-	OMIM:300243
10479	SLC9A6	HP:0000939	Osteoporosis	HP:0040283	ORPHA:85278
10479	SLC9A6	HP:0000275	Narrow face	-	OMIM:300243
10479	SLC9A6	HP:0000275	Narrow face	HP:0040281	ORPHA:85278
10479	SLC9A6	HP:0000276	Long face	-	OMIM:300243
10479	SLC9A6	HP:0000276	Long face	HP:0040281	ORPHA:85278
10479	SLC9A6	HP:0000252	Microcephaly	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0000252	Microcephaly	10/11	OMIM:300243
10479	SLC9A6	HP:0001508	Failure to thrive	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0000303	Mandibular prognathia	-	OMIM:300243
10479	SLC9A6	HP:0011182	Interictal epileptiform activity	11/11	OMIM:300243
10479	SLC9A6	HP:0000400	Macrotia	-	OMIM:300243
10479	SLC9A6	HP:0000400	Macrotia	HP:0040281	ORPHA:85278
10479	SLC9A6	HP:0000486	Strabismus	HP:0040281	ORPHA:85278
10479	SLC9A6	HP:0000486	Strabismus	11/11	OMIM:300243
10479	SLC9A6	HP:0000490	Deeply set eye	HP:0040283	ORPHA:85278
10479	SLC9A6	HP:0001760	Abnormal foot morphology	-	OMIM:300243
10479	SLC9A6	HP:0005484	Secondary microcephaly	HP:0040282	ORPHA:85278
10479	SLC9A6	HP:0006794	Loss of ability to walk in first decade	-	OMIM:300243
10479	SLC9A6	HP:0000574	Thick eyebrow	-	OMIM:300243
10479	SLC9A6	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:85278
10483	SEC23B	HP:0001156	Brachydactyly	HP:0040283	ORPHA:201
10483	SEC23B	HP:0001250	Seizure	HP:0040283	ORPHA:201
10483	SEC23B	HP:0001251	Ataxia	HP:0040282	ORPHA:201
10483	SEC23B	HP:0001249	Intellectual disability	HP:0040282	ORPHA:201
10483	SEC23B	HP:0001263	Global developmental delay	HP:0040282	ORPHA:201
10483	SEC23B	HP:0008675	Enlarged polycystic ovaries	HP:0040283	ORPHA:201
10483	SEC23B	HP:0010972	Anemia of inadequate production	-	OMIM:224100
10483	SEC23B	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:201
10483	SEC23B	HP:0012062	Bone cyst	HP:0040283	ORPHA:201
10483	SEC23B	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:201
10483	SEC23B	HP:0012032	Lipoma	HP:0040282	ORPHA:201
10483	SEC23B	HP:0000036	Abnormal penis morphology	HP:0040282	ORPHA:201
10483	SEC23B	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:201
10483	SEC23B	HP:0002664	Neoplasm	HP:0040282	ORPHA:201
10483	SEC23B	HP:0000007	Autosomal recessive inheritance	-	OMIM:224100
10483	SEC23B	HP:0000006	Autosomal dominant inheritance	-	OMIM:616858
10483	SEC23B	HP:0002650	Scoliosis	HP:0040283	ORPHA:201
10483	SEC23B	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:201
10483	SEC23B	HP:0000158	Macroglossia	HP:0040282	ORPHA:201
10483	SEC23B	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:201
10483	SEC23B	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:201
10483	SEC23B	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:201
10483	SEC23B	HP:0003352	Endopolyploidy on chromosome studies of bone marrow	-	OMIM:224100
10483	SEC23B	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:201
10483	SEC23B	HP:0100579	Mucosal telangiectasiae	HP:0040282	ORPHA:201
10483	SEC23B	HP:0003596	Middle age onset	1/33	OMIM:224100
10483	SEC23B	HP:0003593	Infantile onset	6/33	OMIM:224100
10483	SEC23B	HP:0003584	Late onset	1/33	OMIM:224100
10483	SEC23B	HP:0100780	Conjunctival hamartoma	HP:0040281	ORPHA:201
10483	SEC23B	HP:0009720	Adenoma sebaceum	HP:0040282	ORPHA:201
10483	SEC23B	HP:0010614	Fibroma	HP:0040282	ORPHA:201
10483	SEC23B	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:201
10483	SEC23B	HP:0001048	Cavernous hemangioma	HP:0040282	ORPHA:201
10483	SEC23B	HP:0001028	Hemangioma	-	OMIM:616858
10483	SEC23B	HP:0003655	Reduced level of N-acetylglucosaminyltransferase II	-	OMIM:224100
10483	SEC23B	HP:0200034	Papule	HP:0040281	ORPHA:201
10483	SEC23B	HP:0200008	Intestinal polyposis	-	OMIM:616858
10483	SEC23B	HP:0200063	Colorectal polyposis	HP:0040281	ORPHA:201
10483	SEC23B	HP:0001081	Cholelithiasis	-	OMIM:224100
10483	SEC23B	HP:0003621	Juvenile onset	13/33	OMIM:224100
10483	SEC23B	HP:0005595	Generalized hyperkeratosis	HP:0040281	ORPHA:201
10483	SEC23B	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:201
10483	SEC23B	HP:0001923	Reticulocytosis	19/33	OMIM:224100
10483	SEC23B	HP:0004322	Short stature	HP:0040283	ORPHA:201
10483	SEC23B	HP:0003002	Breast carcinoma	HP:0040281	ORPHA:201
10483	SEC23B	HP:0003002	Breast carcinoma	-	OMIM:616858
10483	SEC23B	HP:0004390	Hamartomatous polyposis	HP:0040282	ORPHA:201
10483	SEC23B	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:201
10483	SEC23B	HP:0000771	Gynecomastia	HP:0040283	ORPHA:201
10483	SEC23B	HP:0012733	Macule	HP:0040281	ORPHA:201
10483	SEC23B	HP:0012740	Papilloma	HP:0040281	ORPHA:201
10483	SEC23B	HP:0012740	Papilloma	-	OMIM:616858
10483	SEC23B	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:201
10483	SEC23B	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:201
10483	SEC23B	HP:0000717	Autism	HP:0040283	ORPHA:201
10483	SEC23B	HP:0011463	Childhood onset	4/33	OMIM:224100
10483	SEC23B	HP:0011462	Young adult onset	8/33	OMIM:224100
10483	SEC23B	HP:0000872	Hashimoto thyroiditis	-	OMIM:616858
10483	SEC23B	HP:0012844	Trichilemmoma	-	OMIM:616858
10483	SEC23B	HP:0000853	Goiter	-	OMIM:616858
10483	SEC23B	HP:0000853	Goiter	HP:0040281	ORPHA:201
10483	SEC23B	HP:0000820	Abnormality of the thyroid gland	HP:0040282	ORPHA:201
10483	SEC23B	HP:0000995	Melanocytic nevus	HP:0040282	ORPHA:201
10483	SEC23B	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:201
10483	SEC23B	HP:0000952	Jaundice	-	OMIM:224100
10483	SEC23B	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:201
10483	SEC23B	HP:0000256	Macrocephaly	HP:0040282	ORPHA:201
10483	SEC23B	HP:0000256	Macrocephaly	-	OMIM:616858
10483	SEC23B	HP:0030075	Ductal carcinoma in situ	-	OMIM:616858
10483	SEC23B	HP:0002808	Kyphosis	HP:0040283	ORPHA:201
10483	SEC23B	HP:0000221	Furrowed tongue	HP:0040282	ORPHA:201
10483	SEC23B	HP:0000218	High palate	HP:0040283	ORPHA:201
10483	SEC23B	HP:0002895	Papillary thyroid carcinoma	6/7	OMIM:616858
10483	SEC23B	HP:0002861	Melanoma	HP:0040283	ORPHA:201
10483	SEC23B	HP:0002858	Meningioma	HP:0040282	ORPHA:201
10483	SEC23B	HP:0001508	Failure to thrive	HP:0040283	ORPHA:201
10483	SEC23B	HP:0000365	Hearing impairment	HP:0040283	ORPHA:201
10483	SEC23B	HP:0005374	Cellular immunodeficiency	HP:0040283	ORPHA:201
10483	SEC23B	HP:0001744	Splenomegaly	-	OMIM:224100
10483	SEC23B	HP:0006731	Follicular thyroid carcinoma	HP:0040283	ORPHA:201
10483	SEC23B	HP:0000518	Cataract	HP:0040283	ORPHA:201
10483	SEC23B	HP:0000545	Myopia	HP:0040283	ORPHA:201
10484	SEC23A	HP:0008808	High iliac wing	4/4	OMIM:607812
10484	SEC23A	HP:0008808	High iliac wing	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0001382	Joint hypermobility	1/3	OMIM:607812
10484	SEC23A	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:50814
10484	SEC23A	HP:0000028	Cryptorchidism	2/3	OMIM:607812
10484	SEC23A	HP:0000007	Autosomal recessive inheritance	-	OMIM:607812
10484	SEC23A	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0002650	Scoliosis	2/4	OMIM:607812
10484	SEC23A	HP:0002650	Scoliosis	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0000193	Bifid uvula	HP:0040283	OMIM:607812
10484	SEC23A	HP:0000175	Cleft palate	HP:0040283	OMIM:607812
10484	SEC23A	HP:0001476	Delayed closure of the anterior fontanelle	4/4	OMIM:607812
10484	SEC23A	HP:0000154	Wide mouth	4/4	OMIM:607812
10484	SEC23A	HP:0000154	Wide mouth	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0007648	Punctate cataract	-	OMIM:607812
10484	SEC23A	HP:0002020	Gastroesophageal reflux	HP:0040283	OMIM:607812
10484	SEC23A	HP:0002007	Frontal bossing	4/4	OMIM:607812
10484	SEC23A	HP:0002007	Frontal bossing	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0011800	Midface retrusion	4/4	OMIM:607812
10484	SEC23A	HP:0003577	Congenital onset	4/4	OMIM:607812
10484	SEC23A	HP:0002208	Coarse hair	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0002208	Coarse hair	4/4	OMIM:607812
10484	SEC23A	HP:0002299	Brittle hair	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0002299	Brittle hair	4/4	OMIM:607812
10484	SEC23A	HP:0001000	Abnormality of skin pigmentation	HP:0040282	ORPHA:50814
10484	SEC23A	HP:0008444	Posterior wedging of vertebral bodies	4/4	OMIM:607812
10484	SEC23A	HP:0008444	Posterior wedging of vertebral bodies	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0000648	Optic atrophy	HP:0040283	OMIM:607812
10484	SEC23A	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0000684	Delayed eruption of teeth	4/4	OMIM:607812
10484	SEC23A	HP:0000691	Microdontia	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0000685	Hypoplasia of teeth	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0000685	Hypoplasia of teeth	-	OMIM:607812
10484	SEC23A	HP:0000670	Carious teeth	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0000670	Carious teeth	14/14	OMIM:607812
10484	SEC23A	HP:0004322	Short stature	4/4	OMIM:607812
10484	SEC23A	HP:0004322	Short stature	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0004331	Decreased skull ossification	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:50814
10484	SEC23A	HP:0000774	Narrow chest	3/3	OMIM:607812
10484	SEC23A	HP:0000774	Narrow chest	HP:0040282	ORPHA:50814
10484	SEC23A	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:50814
10484	SEC23A	HP:0000938	Osteopenia	HP:0040283	OMIM:607812
10484	SEC23A	HP:0008070	Sparse hair	4/4	OMIM:607812
10484	SEC23A	HP:0008070	Sparse hair	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0008031	Posterior Y-sutural cataract	4/4	OMIM:607812
10484	SEC23A	HP:0008031	Posterior Y-sutural cataract	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0000260	Wide anterior fontanel	4/4	OMIM:607812
10484	SEC23A	HP:0000256	Macrocephaly	-	OMIM:607812
10484	SEC23A	HP:0000272	Malar flattening	-	OMIM:607812
10484	SEC23A	HP:0000239	Large fontanelles	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0000219	Thin upper lip vermilion	4/4	OMIM:607812
10484	SEC23A	HP:0000218	High palate	1/4	OMIM:607812
10484	SEC23A	HP:0000218	High palate	HP:0040283	ORPHA:50814
10484	SEC23A	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0002868	Narrow iliac wing	4/4	OMIM:607812
10484	SEC23A	HP:0006480	Premature loss of teeth	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0000343	Long philtrum	4/4	OMIM:607812
10484	SEC23A	HP:0000343	Long philtrum	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0000336	Prominent supraorbital ridges	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0000336	Prominent supraorbital ridges	4/4	OMIM:607812
10484	SEC23A	HP:0000319	Smooth philtrum	4/4	OMIM:607812
10484	SEC23A	HP:0000319	Smooth philtrum	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0000316	Hypertelorism	4/4	OMIM:607812
10484	SEC23A	HP:0000316	Hypertelorism	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0005336	Forehead hyperpigmentation	-	OMIM:607812
10484	SEC23A	HP:0005306	Capillary hemangioma	HP:0040282	ORPHA:50814
10484	SEC23A	HP:0005306	Capillary hemangioma	-	OMIM:607812
10484	SEC23A	HP:0000463	Anteverted nares	-	OMIM:607812
10484	SEC23A	HP:0001763	Pes planus	3/4	OMIM:607812
10484	SEC23A	HP:0001763	Pes planus	HP:0040282	ORPHA:50814
10484	SEC23A	HP:0000445	Wide nose	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0000431	Wide nasal bridge	4/4	OMIM:607812
10484	SEC23A	HP:0000426	Prominent nasal bridge	4/4	OMIM:607812
10484	SEC23A	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:50814
10484	SEC23A	HP:0000565	Esotropia	HP:0040283	OMIM:607812
10486	CAP2	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
10486	CAP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620462
10486	CAP2	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
10486	CAP2	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
10486	CAP2	HP:0004755	Supraventricular tachycardia	2/2	OMIM:620462
10486	CAP2	HP:0003621	Juvenile onset	1/2	OMIM:620462
10486	CAP2	HP:0012666	Severely reduced left ventricular ejection fraction	2/2	OMIM:620462
10486	CAP2	HP:0011463	Childhood onset	1/2	OMIM:620462
10486	CAP2	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
10486	CAP2	HP:0003198	Myopathy	HP:0040283	ORPHA:154
10486	CAP2	HP:0000969	Edema	HP:0040282	ORPHA:154
10486	CAP2	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
10486	CAP2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
10486	CAP2	HP:0012378	Fatigue	HP:0040282	ORPHA:154
10486	CAP2	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
10486	CAP2	HP:0001644	Dilated cardiomyopathy	5/5	OMIM:620462
10486	CAP2	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
10486	CAP2	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
10486	CAP2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
10491	CRTAP	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
10491	CRTAP	HP:0001293	Cranial nerve compression	-	OMIM:131300
10491	CRTAP	HP:0001256	Intellectual disability, mild	-	OMIM:259770
10491	CRTAP	HP:0001252	Hypotonia	HP:0040282	ORPHA:2050
10491	CRTAP	HP:0001252	Hypotonia	-	OMIM:259770
10491	CRTAP	HP:0001252	Hypotonia	2/7	OMIM:615777
10491	CRTAP	HP:0001249	Intellectual disability	0/8	OMIM:610682
10491	CRTAP	HP:0001249	Intellectual disability	5/7	OMIM:615777
10491	CRTAP	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2050
10491	CRTAP	HP:0001263	Global developmental delay	1/1	OMIM:612394
10491	CRTAP	HP:0001263	Global developmental delay	-	OMIM:615777
10491	CRTAP	HP:0002515	Waddling gait	54/102	OMIM:131300
10491	CRTAP	HP:0001382	Joint hypermobility	-	OMIM:259770
10491	CRTAP	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:2050
10491	CRTAP	HP:0001382	Joint hypermobility	-	OMIM:615777
10491	CRTAP	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
10491	CRTAP	HP:0002694	Sclerosis of skull base	-	OMIM:131300
10491	CRTAP	HP:0008897	Postnatal growth retardation	-	OMIM:615777
10491	CRTAP	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
10491	CRTAP	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
10491	CRTAP	HP:0008796	Femoral retroversion	-	OMIM:610682
10491	CRTAP	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
10491	CRTAP	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
10491	CRTAP	HP:0001324	Muscle weakness	40/96	OMIM:131300
10491	CRTAP	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
10491	CRTAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
10491	CRTAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
10491	CRTAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:610682
10491	CRTAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
10491	CRTAP	HP:0001334	Communicating hydrocephalus	HP:0040282	ORPHA:2050
10491	CRTAP	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
10491	CRTAP	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:2050
10491	CRTAP	HP:0002650	Scoliosis	1/5	OMIM:259770
10491	CRTAP	HP:0002650	Scoliosis	4/5	OMIM:610682
10491	CRTAP	HP:0002650	Scoliosis	1/1	OMIM:612394
10491	CRTAP	HP:0002650	Scoliosis	HP:0040282	ORPHA:2050
10491	CRTAP	HP:0002650	Scoliosis	12/14	OMIM:131300
10491	CRTAP	HP:0002645	Wormian bones	HP:0040282	ORPHA:2050
10491	CRTAP	HP:0002645	Wormian bones	2/4	OMIM:610682
10491	CRTAP	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
10491	CRTAP	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
10491	CRTAP	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
10491	CRTAP	HP:0008905	Rhizomelia	8/8	OMIM:610682
10491	CRTAP	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
10491	CRTAP	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
10491	CRTAP	HP:0000175	Cleft palate	2/7	OMIM:615777
10491	CRTAP	HP:0000126	Hydronephrosis	-	OMIM:610682
10491	CRTAP	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:2050
10491	CRTAP	HP:0002757	Recurrent fractures	4/5	OMIM:259770
10491	CRTAP	HP:0002757	Recurrent fractures	7/7	OMIM:610682
10491	CRTAP	HP:0002756	Pathologic fracture	-	OMIM:259770
10491	CRTAP	HP:0002756	Pathologic fracture	1/1	OMIM:612394
10491	CRTAP	HP:0002751	Kyphoscoliosis	-	OMIM:259770
10491	CRTAP	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
10491	CRTAP	HP:0002007	Frontal bossing	HP:0040281	ORPHA:2050
10491	CRTAP	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:2050
10491	CRTAP	HP:0011800	Midface retrusion	HP:0040281	ORPHA:2050
10491	CRTAP	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
10491	CRTAP	HP:0003388	Easy fatigability	36/76	OMIM:131300
10491	CRTAP	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
10491	CRTAP	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
10491	CRTAP	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
10491	CRTAP	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
10491	CRTAP	HP:0002164	Nail dysplasia	1/1	OMIM:612394
10491	CRTAP	HP:0010557	Overlapping fingers	1/2	OMIM:612394
10491	CRTAP	HP:0010537	Wide cranial sutures	-	OMIM:610682
10491	CRTAP	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
10491	CRTAP	HP:0003593	Infantile onset	1/5	OMIM:259770
10491	CRTAP	HP:0003577	Congenital onset	4/5	OMIM:259770
10491	CRTAP	HP:0002208	Coarse hair	1/1	OMIM:612394
10491	CRTAP	HP:0003510	Severe short stature	7/7	OMIM:615777
10491	CRTAP	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
10491	CRTAP	HP:0025019	Arterial rupture	1/1	OMIM:612394
10491	CRTAP	HP:0002315	Headache	-	OMIM:131300
10491	CRTAP	HP:0004976	Knee dislocation	6/7	OMIM:615777
10491	CRTAP	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
10491	CRTAP	HP:0009803	Short phalanx of finger	-	OMIM:615777
10491	CRTAP	HP:0001089	Iris atrophy	-	OMIM:259770
10491	CRTAP	HP:0009763	Limb pain	63/92	OMIM:131300
10491	CRTAP	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
10491	CRTAP	HP:0004960	Absent pulmonary artery	-	OMIM:610682
10491	CRTAP	HP:0003621	Juvenile onset	-	OMIM:131300
10491	CRTAP	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
10491	CRTAP	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
10491	CRTAP	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
10491	CRTAP	HP:6001056	Out-toeing	-	OMIM:131300
10491	CRTAP	HP:0000651	Diplopia	-	OMIM:131300
10491	CRTAP	HP:0000618	Blindness	5/5	OMIM:259770
10491	CRTAP	HP:0001956	Truncal obesity	2/7	OMIM:615777
10491	CRTAP	HP:0001903	Anemia	HP:0040283	OMIM:131300
10491	CRTAP	HP:0010049	Short metacarpal	-	OMIM:615777
10491	CRTAP	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:2050
10491	CRTAP	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:2050
10491	CRTAP	HP:0000678	Dental crowding	-	OMIM:615777
10491	CRTAP	HP:0000670	Carious teeth	-	OMIM:131300
10491	CRTAP	HP:0011304	Broad thumb	2/7	OMIM:615777
10491	CRTAP	HP:0000668	Hypodontia	-	OMIM:615777
10491	CRTAP	HP:0000667	Phthisis bulbi	-	OMIM:259770
10491	CRTAP	HP:0000664	Synophrys	-	OMIM:615777
10491	CRTAP	HP:0004322	Short stature	HP:0040281	ORPHA:2050
10491	CRTAP	HP:0004322	Short stature	-	OMIM:259770
10491	CRTAP	HP:0004322	Short stature	-	OMIM:610682
10491	CRTAP	HP:0030674	Antenatal onset	4/4	OMIM:610682
10491	CRTAP	HP:0004396	Poor appetite	-	OMIM:131300
10491	CRTAP	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
10491	CRTAP	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
10491	CRTAP	HP:0003016	Metaphyseal widening	-	OMIM:259770
10491	CRTAP	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
10491	CRTAP	HP:0003026	Short long bone	7/7	OMIM:615777
10491	CRTAP	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
10491	CRTAP	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:2050
10491	CRTAP	HP:0000767	Pectus excavatum	-	OMIM:610682
10491	CRTAP	HP:0000767	Pectus excavatum	2/7	OMIM:615777
10491	CRTAP	HP:0000768	Pectus carinatum	1/7	OMIM:615777
10491	CRTAP	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
10491	CRTAP	HP:0000750	Delayed speech and language development	-	OMIM:615777
10491	CRTAP	HP:0000703	Dentinogenesis imperfecta	0/8	OMIM:610682
10491	CRTAP	HP:0011461	Fetal onset	7/7	OMIM:615777
10491	CRTAP	HP:0011461	Fetal onset	2/2	OMIM:612394
10491	CRTAP	HP:0000774	Narrow chest	2/7	OMIM:615777
10491	CRTAP	HP:0000774	Narrow chest	-	OMIM:610682
10491	CRTAP	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
10491	CRTAP	HP:0003196	Short nose	1/1	OMIM:612394
10491	CRTAP	HP:0000926	Platyspondyly	-	OMIM:259770
10491	CRTAP	HP:0000926	Platyspondyly	1/7	OMIM:615777
10491	CRTAP	HP:0000926	Platyspondyly	1/1	OMIM:612394
10491	CRTAP	HP:0003179	Protrusio acetabuli	4/8	OMIM:610682
10491	CRTAP	HP:0003180	Flat acetabular roof	-	OMIM:615777
10491	CRTAP	HP:0004482	Relative macrocephaly	-	OMIM:615777
10491	CRTAP	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
10491	CRTAP	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
10491	CRTAP	HP:0000823	Delayed puberty	-	OMIM:131300
10491	CRTAP	HP:0000894	Short clavicles	-	OMIM:615777
10491	CRTAP	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
10491	CRTAP	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
10491	CRTAP	HP:0005855	Multiple prenatal fractures	4/4	OMIM:610682
10491	CRTAP	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
10491	CRTAP	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
10491	CRTAP	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
10491	CRTAP	HP:0000939	Osteoporosis	4/5	OMIM:259770
10491	CRTAP	HP:0000938	Osteopenia	1/5	OMIM:259770
10491	CRTAP	HP:0000938	Osteopenia	1/1	OMIM:612394
10491	CRTAP	HP:0000938	Osteopenia	-	OMIM:610682
10491	CRTAP	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2050
10491	CRTAP	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
10491	CRTAP	HP:0000286	Epicanthus	1/7	OMIM:615777
10491	CRTAP	HP:0000280	Coarse facial features	2/7	OMIM:615777
10491	CRTAP	HP:0000260	Wide anterior fontanel	-	OMIM:610682
10491	CRTAP	HP:0000262	Turricephaly	HP:0040282	ORPHA:2050
10491	CRTAP	HP:0000270	Delayed cranial suture closure	-	OMIM:610682
10491	CRTAP	HP:0000272	Malar flattening	1/1	OMIM:612394
10491	CRTAP	HP:0007773	Vitreoretinopathy	-	OMIM:259770
10491	CRTAP	HP:0002812	Coxa vara	8/8	OMIM:610682
10491	CRTAP	HP:0002827	Hip dislocation	3/7	OMIM:615777
10491	CRTAP	HP:0002808	Kyphosis	1/5	OMIM:259770
10491	CRTAP	HP:0002808	Kyphosis	HP:0040282	ORPHA:2050
10491	CRTAP	HP:0006367	Crumpled long bones	-	OMIM:610682
10491	CRTAP	HP:0006367	Crumpled long bones	HP:0040281	ORPHA:2050
10491	CRTAP	HP:0000252	Microcephaly	-	OMIM:259770
10491	CRTAP	HP:0000252	Microcephaly	-	OMIM:615777
10491	CRTAP	HP:0001552	Barrel-shaped chest	-	OMIM:259770
10491	CRTAP	HP:0002857	Genu valgum	-	OMIM:131300
10491	CRTAP	HP:0001522	Death in infancy	-	OMIM:610682
10491	CRTAP	HP:0001533	Slender build	-	OMIM:131300
10491	CRTAP	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2050
10491	CRTAP	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
10491	CRTAP	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
10491	CRTAP	HP:0007807	Optic nerve compression	-	OMIM:131300
10491	CRTAP	HP:0012368	Flat face	7/7	OMIM:615777
10491	CRTAP	HP:0012368	Flat face	1/1	OMIM:612394
10491	CRTAP	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
10491	CRTAP	HP:0007875	Congenital blindness	4/5	OMIM:259770
10491	CRTAP	HP:0007862	Retinal calcification	1/5	OMIM:259770
10491	CRTAP	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:2050
10491	CRTAP	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
10491	CRTAP	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:2050
10491	CRTAP	HP:0000365	Hearing impairment	10/67	OMIM:131300
10491	CRTAP	HP:0000364	Hearing abnormality	0/8	OMIM:610682
10491	CRTAP	HP:0000369	Low-set ears	2/2	OMIM:612394
10491	CRTAP	HP:0000343	Long philtrum	-	OMIM:610682
10491	CRTAP	HP:0000343	Long philtrum	1/7	OMIM:615777
10491	CRTAP	HP:0011001	Increased bone mineral density	-	OMIM:131300
10491	CRTAP	HP:0000347	Micrognathia	HP:0040281	ORPHA:2050
10491	CRTAP	HP:0002982	Tibial bowing	1/5	OMIM:259770
10491	CRTAP	HP:0002983	Micromelia	-	OMIM:610682
10491	CRTAP	HP:0002979	Bowing of the legs	8/8	OMIM:610682
10491	CRTAP	HP:0000311	Round face	2/7	OMIM:615777
10491	CRTAP	HP:0000311	Round face	-	OMIM:610682
10491	CRTAP	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
10491	CRTAP	HP:0001629	Ventricular septal defect	-	OMIM:259770
10491	CRTAP	HP:0002953	Vertebral compression fracture	8/8	OMIM:610682
10491	CRTAP	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
10491	CRTAP	HP:0001623	Breech presentation	-	OMIM:610682
10491	CRTAP	HP:0002970	Genu varum	-	OMIM:615777
10491	CRTAP	HP:0000307	Pointed chin	1/2	OMIM:612394
10491	CRTAP	HP:0000303	Mandibular prognathia	-	OMIM:131300
10491	CRTAP	HP:0005304	Hypoplastic pulmonary veins	-	OMIM:610682
10491	CRTAP	HP:0006640	Multiple rib fractures	-	OMIM:610682
10491	CRTAP	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
10491	CRTAP	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
10491	CRTAP	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:2050
10491	CRTAP	HP:0000463	Anteverted nares	1/1	OMIM:612394
10491	CRTAP	HP:0000470	Short neck	1/7	OMIM:615777
10491	CRTAP	HP:0001769	Broad foot	HP:0040283	OMIM:615777
10491	CRTAP	HP:0001763	Pes planus	1/7	OMIM:615777
10491	CRTAP	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
10491	CRTAP	HP:0005474	Decreased calvarial ossification	-	OMIM:610682
10491	CRTAP	HP:0000518	Cataract	1/5	OMIM:259770
10491	CRTAP	HP:0000518	Cataract	1/1	OMIM:612394
10491	CRTAP	HP:0001840	Metatarsus adductus	-	OMIM:615777
10491	CRTAP	HP:0000520	Proptosis	HP:0040281	ORPHA:2050
10491	CRTAP	HP:0000520	Proptosis	2/4	OMIM:131300
10491	CRTAP	HP:0000520	Proptosis	7/7	OMIM:615777
10491	CRTAP	HP:0000520	Proptosis	-	OMIM:610682
10491	CRTAP	HP:0000592	Blue sclerae	HP:0040281	ORPHA:2050
10491	CRTAP	HP:0000592	Blue sclerae	2/7	OMIM:615777
10491	CRTAP	HP:0000592	Blue sclerae	8/8	OMIM:610682
10491	CRTAP	HP:0000586	Shallow orbits	1/1	OMIM:612394
10491	CRTAP	HP:0000568	Microphthalmia	1/5	OMIM:259770
10491	CRTAP	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
10491	CRTAP	HP:0012514	Lower limb pain	4/4	OMIM:131300
10491	CRTAP	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
10491	CRTAP	HP:0000545	Myopia	1/1	OMIM:612394
10501	SEMA6B	HP:0010864	Intellectual disability, severe	4/4	OMIM:618876
10501	SEMA6B	HP:0001272	Cerebellar atrophy	1/4	OMIM:618876
10501	SEMA6B	HP:0001250	Seizure	4/4	OMIM:618876
10501	SEMA6B	HP:0001251	Ataxia	4/4	OMIM:618876
10501	SEMA6B	HP:0001263	Global developmental delay	4/4	OMIM:618876
10501	SEMA6B	HP:0025352	Typically de novo	-	OMIM:618876
10501	SEMA6B	HP:0001347	Hyperreflexia	2/3	OMIM:618876
10501	SEMA6B	HP:0000006	Autosomal dominant inheritance	-	OMIM:618876
10501	SEMA6B	HP:0001336	Myoclonus	3/3	OMIM:618876
10501	SEMA6B	HP:0001320	Cerebellar vermis hypoplasia	1/4	OMIM:618876
10501	SEMA6B	HP:0001312	Giant somatosensory evoked potentials	1/4	OMIM:618876
10501	SEMA6B	HP:0002725	Systemic lupus erythematosus	1/4	OMIM:618876
10501	SEMA6B	HP:0002080	Intention tremor	4/4	OMIM:618876
10501	SEMA6B	HP:0002063	Rigidity	2/2	OMIM:618876
10501	SEMA6B	HP:0002376	Developmental regression	-	OMIM:618876
10501	SEMA6B	HP:0031936	Delayed ability to walk	3/4	OMIM:618876
10501	SEMA6B	HP:0000750	Delayed speech and language development	4/4	OMIM:618876
10507	SEMA4D	HP:0003700	Generalized amyotrophy	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0001298	Encephalopathy	HP:0040284	ORPHA:171
10507	SEMA4D	HP:0100869	Palmar telangiectasia	HP:0040282	ORPHA:171
10507	SEMA4D	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0001396	Cholestasis	HP:0040281	ORPHA:171
10507	SEMA4D	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:171
10507	SEMA4D	HP:0001394	Cirrhosis	HP:0040282	ORPHA:171
10507	SEMA4D	HP:0002608	Celiac disease	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0012115	Hepatitis	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:171
10507	SEMA4D	HP:0001409	Portal hypertension	HP:0040282	ORPHA:171
10507	SEMA4D	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0002027	Abdominal pain	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0100512	Decreased circulating vitamin D concentration	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0100513	Decreased circulating vitamin E concentration	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0100575	Neoplasm of the gallbladder	HP:0040284	ORPHA:171
10507	SEMA4D	HP:0040275	Adenocarcinoma of the large intestine	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0008151	Prolonged prothrombin time	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0003459	Polyclonal elevation of IgM	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0011892	Decreased circulating vitamin K concentration	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:171
10507	SEMA4D	HP:0002202	Pleural effusion	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0100727	Histiocytosis	-	ORPHA:171
10507	SEMA4D	HP:0010638	Elevated alkaline phosphatase of hepatic origin	HP:0040282	ORPHA:171
10507	SEMA4D	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0100646	Thyroiditis	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0100626	Chronic hepatic failure	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0004905	Reduced circulating vitamin A concentration	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0001945	Fever	HP:0040282	ORPHA:171
10507	SEMA4D	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0012700	Abnormal large intestine physiology	HP:0040282	ORPHA:171
10507	SEMA4D	HP:0000716	Depression	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0100279	Ulcerative colitis	HP:0040282	ORPHA:171
10507	SEMA4D	HP:0000989	Pruritus	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0000952	Jaundice	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0000939	Osteoporosis	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0000938	Osteopenia	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0001541	Ascites	HP:0040282	ORPHA:171
10507	SEMA4D	HP:0012378	Fatigue	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0011034	Amyloidosis	-	ORPHA:171
10507	SEMA4D	HP:0006554	Acute hepatic failure	HP:0040284	ORPHA:171
10507	SEMA4D	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:171
10507	SEMA4D	HP:0030153	Cholangiocarcinoma	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0002960	Autoimmunity	HP:0040281	ORPHA:171
10507	SEMA4D	HP:0030168	Dilated superficial abdominal veins	HP:0040282	ORPHA:171
10507	SEMA4D	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0001733	Pancreatitis	HP:0040283	ORPHA:171
10507	SEMA4D	HP:0012440	Abnormal biliary tract morphology	HP:0040281	ORPHA:171
10507	SEMA4D	HP:0001744	Splenomegaly	HP:0040282	ORPHA:171
10507	SEMA4D	HP:0005429	Recurrent systemic pyogenic infections	-	ORPHA:171
10507	SEMA4D	HP:0001824	Weight loss	HP:0040282	ORPHA:171
10507	SEMA4D	HP:0000554	Uveitis	HP:0040284	ORPHA:171
10507	SEMA4D	HP:0012522	Spider hemangioma	HP:0040282	ORPHA:171
10507	SEMA4D	HP:0001879	Abnormal eosinophil morphology	-	ORPHA:171
10512	SEMA3C	HP:0100806	Sepsis	HP:0040283	ORPHA:388
10512	SEMA3C	HP:0002019	Constipation	HP:0040281	ORPHA:388
10512	SEMA3C	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:388
10512	SEMA3C	HP:0002027	Abdominal pain	HP:0040281	ORPHA:388
10512	SEMA3C	HP:0002014	Diarrhea	HP:0040283	ORPHA:388
10512	SEMA3C	HP:6000224	Delayed passage of meconium	HP:0040282	ORPHA:388
10512	SEMA3C	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:388
10512	SEMA3C	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:388
10512	SEMA3C	HP:0034754	Bilious emesis	HP:0040282	ORPHA:388
10512	SEMA3C	HP:0004322	Short stature	HP:0040283	ORPHA:388
10512	SEMA3C	HP:0004387	Enterocolitis	HP:0040283	ORPHA:388
10512	SEMA3C	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040281	ORPHA:388
10512	SEMA3C	HP:0003270	Abdominal distention	HP:0040282	ORPHA:388
10512	SEMA3C	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:388
10512	SEMA3C	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:388
10512	SEMA3C	HP:0031369	Colon perforation	HP:0040283	ORPHA:388
10512	SEMA3C	HP:0001510	Growth delay	HP:0040283	ORPHA:388
10512	SEMA3C	HP:0005214	Intestinal obstruction	HP:0040281	ORPHA:388
10512	SEMA3C	HP:0001824	Weight loss	HP:0040282	ORPHA:388
10516	FBLN5	HP:0001181	Adducted thumb	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0001166	Arachnodactyly	-	OMIM:219100
10516	FBLN5	HP:0002460	Distal muscle weakness	18/22	OMIM:608895
10516	FBLN5	HP:0025167	Fragmented elastic fibers in the dermis	HP:0040281	ORPHA:90348
10516	FBLN5	HP:0025167	Fragmented elastic fibers in the dermis	HP:0040281	ORPHA:90349
10516	FBLN5	HP:0001270	Motor delay	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0001270	Motor delay	HP:0040282	ORPHA:90349
10516	FBLN5	HP:0001252	Hypotonia	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0001252	Hypotonia	1/2	OMIM:219100
10516	FBLN5	HP:0001263	Global developmental delay	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0008722	Urethral diverticulum	HP:0040283	ORPHA:90349
10516	FBLN5	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:90349
10516	FBLN5	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:90348
10516	FBLN5	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:90349
10516	FBLN5	HP:0001382	Joint hypermobility	2/18	OMIM:608895
10516	FBLN5	HP:0001382	Joint hypermobility	-	OMIM:219100
10516	FBLN5	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:90348
10516	FBLN5	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:90349
10516	FBLN5	HP:0000023	Inguinal hernia	1/2	OMIM:219100
10516	FBLN5	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0000015	Bladder diverticulum	1/4	OMIM:219100
10516	FBLN5	HP:0001348	Brisk reflexes	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0002677	Small foramen magnum	HP:0040284	ORPHA:90348
10516	FBLN5	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0007522	Increased number of skin folds	HP:0040281	ORPHA:90348
10516	FBLN5	HP:0007495	Prematurely aged appearance	HP:0040282	ORPHA:90348
10516	FBLN5	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:90349
10516	FBLN5	HP:0000007	Autosomal recessive inheritance	-	OMIM:219100
10516	FBLN5	HP:0000006	Autosomal dominant inheritance	-	OMIM:608895
10516	FBLN5	HP:0000006	Autosomal dominant inheritance	-	OMIM:614434
10516	FBLN5	HP:0000006	Autosomal dominant inheritance	-	OMIM:619764
10516	FBLN5	HP:0002650	Scoliosis	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0002650	Scoliosis	-	OMIM:614434
10516	FBLN5	HP:0002645	Wormian bones	HP:0040284	ORPHA:90348
10516	FBLN5	HP:0002617	Vascular dilatation	HP:0040283	ORPHA:90349
10516	FBLN5	HP:0008959	Distal upper limb muscle weakness	10/15	OMIM:619764
10516	FBLN5	HP:0008944	Distal lower limb amyotrophy	11/15	OMIM:619764
10516	FBLN5	HP:0000122	Unilateral renal agenesis	HP:0040284	ORPHA:90348
10516	FBLN5	HP:0002756	Pathologic fracture	HP:0040282	ORPHA:90349
10516	FBLN5	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:90349
10516	FBLN5	HP:0005989	Redundant neck skin	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0002013	Vomiting	HP:0040284	ORPHA:90348
10516	FBLN5	HP:0011808	Decreased patellar reflex	18/23	OMIM:608895
10516	FBLN5	HP:0002097	Emphysema	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0002097	Emphysema	HP:0040281	ORPHA:90349
10516	FBLN5	HP:0002097	Emphysema	6/6	OMIM:219100
10516	FBLN5	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:90349
10516	FBLN5	HP:0100512	Decreased circulating vitamin D concentration	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0003477	Peripheral axonal neuropathy	18/18	OMIM:608895
10516	FBLN5	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0002107	Pneumothorax	HP:0040282	ORPHA:90349
10516	FBLN5	HP:0003596	Middle age onset	4/18	OMIM:608895
10516	FBLN5	HP:0003577	Congenital onset	1/1	OMIM:219100
10516	FBLN5	HP:0002256	Small bowel diverticula	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0002256	Small bowel diverticula	HP:0040283	ORPHA:90349
10516	FBLN5	HP:0003584	Late onset	7/18	OMIM:608895
10516	FBLN5	HP:0003581	Adult onset	13/15	OMIM:619764
10516	FBLN5	HP:0002205	Recurrent respiratory infections	4/4	OMIM:219100
10516	FBLN5	HP:0100790	Hernia	HP:0040282	ORPHA:90348
10516	FBLN5	HP:0100790	Hernia	HP:0040282	ORPHA:90349
10516	FBLN5	HP:0010674	Abnormal curvature of the vertebral column	HP:0040282	ORPHA:90348
10516	FBLN5	HP:0010648	Dermal translucency	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0011950	Bronchiolitis	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0001058	Poor wound healing	0/2	OMIM:219100
10516	FBLN5	HP:0003693	Distal amyotrophy	18/22	OMIM:608895
10516	FBLN5	HP:0025082	Abnormal cutaneous elastic fiber morphology	1/1	OMIM:219100
10516	FBLN5	HP:0100678	Premature skin wrinkling	HP:0040281	ORPHA:90348
10516	FBLN5	HP:0100678	Premature skin wrinkling	-	OMIM:614434
10516	FBLN5	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:90349
10516	FBLN5	HP:0007149	Distal upper limb amyotrophy	10/15	OMIM:619764
10516	FBLN5	HP:0032153	Joint subluxation	HP:0040282	ORPHA:90349
10516	FBLN5	HP:0010750	Dermatochalasis	HP:0040281	ORPHA:90349
10516	FBLN5	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:219100
10516	FBLN5	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:90349
10516	FBLN5	HP:0004969	Peripheral pulmonary artery stenosis	1/2	OMIM:219100
10516	FBLN5	HP:0004948	Vascular tortuosity	-	OMIM:219100
10516	FBLN5	HP:0004942	Aortic aneurysm	HP:0040282	ORPHA:90348
10516	FBLN5	HP:0006844	Absent patellar reflexes	6/15	OMIM:619764
10516	FBLN5	HP:0012619	Multiple bladder diverticula	HP:0040283	ORPHA:90349
10516	FBLN5	HP:0000608	Macular degeneration	9/19	OMIM:608895
10516	FBLN5	HP:0000608	Macular degeneration	3/14	OMIM:619764
10516	FBLN5	HP:0009053	Distal lower limb muscle weakness	11/15	OMIM:619764
10516	FBLN5	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:90348
10516	FBLN5	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:90349
10516	FBLN5	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:90349
10516	FBLN5	HP:0004381	Supravalvular aortic stenosis	HP:0040283	ORPHA:90349
10516	FBLN5	HP:0004381	Supravalvular aortic stenosis	1/6	OMIM:219100
10516	FBLN5	HP:0000767	Pectus excavatum	-	OMIM:219100
10516	FBLN5	HP:0000762	Decreased nerve conduction velocity	HP:0040283	OMIM:608895
10516	FBLN5	HP:0000729	Autistic behavior	HP:0040284	ORPHA:90348
10516	FBLN5	HP:0011463	Childhood onset	2/15	OMIM:619764
10516	FBLN5	HP:0011463	Childhood onset	2/18	OMIM:608895
10516	FBLN5	HP:0011462	Young adult onset	5/18	OMIM:608895
10516	FBLN5	HP:0000776	Congenital diaphragmatic hernia	0/2	OMIM:219100
10516	FBLN5	HP:0004426	Abnormal cheek morphology	HP:0040282	ORPHA:90349
10516	FBLN5	HP:0000929	Abnormal skull morphology	HP:0040283	ORPHA:90349
10516	FBLN5	HP:0034273	Premature sagging cheeks	1/2	OMIM:219100
10516	FBLN5	HP:0011510	Drusen	-	OMIM:608895
10516	FBLN5	HP:0011506	Choroidal neovascularization	-	OMIM:608895
10516	FBLN5	HP:0030872	Abnormal cardiac ventricular function	HP:0040283	ORPHA:90349
10516	FBLN5	HP:0045027	Abnormality of the thoracic cavity	HP:0040282	ORPHA:90349
10516	FBLN5	HP:0000974	Hyperextensible skin	4/18	OMIM:608895
10516	FBLN5	HP:0000974	Hyperextensible skin	4/14	OMIM:619764
10516	FBLN5	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:90348
10516	FBLN5	HP:0000974	Hyperextensible skin	0/2	OMIM:219100
10516	FBLN5	HP:0000973	Cutis laxa	-	OMIM:614434
10516	FBLN5	HP:0000973	Cutis laxa	HP:0040281	ORPHA:90348
10516	FBLN5	HP:0000973	Cutis laxa	HP:0040280	ORPHA:90349
10516	FBLN5	HP:0000973	Cutis laxa	6/6	OMIM:219100
10516	FBLN5	HP:0000938	Osteopenia	HP:0040284	ORPHA:90348
10516	FBLN5	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:90349
10516	FBLN5	HP:0000270	Delayed cranial suture closure	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0002816	Genu recurvatum	HP:0040284	ORPHA:90348
10516	FBLN5	HP:0002827	Hip dislocation	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0002827	Hip dislocation	HP:0040283	ORPHA:90349
10516	FBLN5	HP:0000252	Microcephaly	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0000252	Microcephaly	-	OMIM:219100
10516	FBLN5	HP:0001582	Redundant skin	HP:0040281	ORPHA:90348
10516	FBLN5	HP:0001582	Redundant skin	HP:0040281	ORPHA:90349
10516	FBLN5	HP:0001582	Redundant skin	4/4	OMIM:219100
10516	FBLN5	HP:0001548	Overgrowth	-	OMIM:219100
10516	FBLN5	HP:0001562	Oligohydramnios	-	OMIM:219100
10516	FBLN5	HP:0001537	Umbilical hernia	-	OMIM:219100
10516	FBLN5	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:90349
10516	FBLN5	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:90349
10516	FBLN5	HP:0002936	Distal sensory impairment	HP:0040281	OMIM:608895
10516	FBLN5	HP:0002936	Distal sensory impairment	14/14	OMIM:619764
10516	FBLN5	HP:0011004	Abnormal systemic arterial morphology	HP:0040282	ORPHA:90349
10516	FBLN5	HP:0000369	Low-set ears	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0012330	Pyelonephritis	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0012330	Pyelonephritis	HP:0040283	ORPHA:90349
10516	FBLN5	HP:0000337	Broad forehead	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:90348
10516	FBLN5	HP:0001659	Aortic regurgitation	1/2	OMIM:219100
10516	FBLN5	HP:0001653	Mitral regurgitation	-	OMIM:614434
10516	FBLN5	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:90348
10516	FBLN5	HP:0000325	Triangular face	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:90349
10516	FBLN5	HP:0007957	Corneal opacity	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0006698	Dilatation of the ventricular cavity	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0006698	Dilatation of the ventricular cavity	HP:0040283	ORPHA:90349
10516	FBLN5	HP:0000486	Strabismus	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0001763	Pes planus	HP:0040284	ORPHA:90348
10516	FBLN5	HP:0000411	Protruding ear	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0001762	Talipes equinovarus	HP:0040284	ORPHA:90348
10516	FBLN5	HP:0001761	Pes cavus	-	OMIM:608895
10516	FBLN5	HP:0000519	Developmental cataract	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0000508	Ptosis	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0011220	Prominent forehead	HP:0040283	ORPHA:90348
10516	FBLN5	HP:0001884	Talipes calcaneovalgus	HP:0040284	ORPHA:90348
10518	CIB2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
10518	CIB2	HP:0001270	Motor delay	-	OMIM:614869
10518	CIB2	HP:0001251	Ataxia	HP:0040281	ORPHA:231169
10518	CIB2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:231169
10518	CIB2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:231169
10518	CIB2	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:231169
10518	CIB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:609439
10518	CIB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
10518	CIB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614869
10518	CIB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
10518	CIB2	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:231169
10518	CIB2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
10518	CIB2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
10518	CIB2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:231169
10518	CIB2	HP:0003577	Congenital onset	-	OMIM:614869
10518	CIB2	HP:0100753	Schizophrenia	HP:0040282	ORPHA:231169
10518	CIB2	HP:0008499	High hypermetropia	HP:0040282	ORPHA:231169
10518	CIB2	HP:0003621	Juvenile onset	8/19	OMIM:180100
10518	CIB2	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:231169
10518	CIB2	HP:0000662	Nyctalopia	26/28	OMIM:180100
10518	CIB2	HP:0000662	Nyctalopia	HP:0040281	ORPHA:231169
10518	CIB2	HP:0000738	Hallucinations	HP:0040283	ORPHA:231169
10518	CIB2	HP:0000739	Anxiety	HP:0040283	ORPHA:231169
10518	CIB2	HP:0000716	Depression	HP:0040283	ORPHA:231169
10518	CIB2	HP:0011476	Profound sensorineural hearing impairment	-	OMIM:609439
10518	CIB2	HP:0011463	Childhood onset	3/19	OMIM:180100
10518	CIB2	HP:0011462	Young adult onset	8/19	OMIM:180100
10518	CIB2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
10518	CIB2	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:231169
10518	CIB2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
10518	CIB2	HP:0012377	Hemianopia	HP:0040281	ORPHA:231169
10518	CIB2	HP:0000375	Abnormal cochlea morphology	HP:0040281	ORPHA:231169
10518	CIB2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:231169
10518	CIB2	HP:0001751	Abnormal vestibular function	-	OMIM:614869
10518	CIB2	HP:0001751	Abnormal vestibular function	-	OMIM:609439
10518	CIB2	HP:0001756	Vestibular hyporeflexia	HP:0040281	ORPHA:231169
10518	CIB2	HP:0000518	Cataract	HP:0040282	ORPHA:231169
10518	CIB2	HP:0000510	Rod-cone dystrophy	-	OMIM:614869
10518	CIB2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
10518	CIB2	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:231169
10518	CIB2	HP:0000575	Scotoma	HP:0040281	ORPHA:231169
10518	CIB2	HP:0000575	Scotoma	5/18	OMIM:180100
10518	CIB2	HP:0000572	Visual loss	HP:0040281	ORPHA:231169
10518	CIB2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
10518	CIB2	HP:0000545	Myopia	-	OMIM:180100
10519	CIB1	HP:0007565	Multiple cafe-au-lait spots	HP:0040282	ORPHA:302
10519	CIB1	HP:0002671	Basal cell carcinoma	3/24	OMIM:618267
10519	CIB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618267
10519	CIB1	HP:0002715	Abnormality of the immune system	HP:0040281	ORPHA:302
10519	CIB1	HP:0100585	Telangiectasia of the skin	HP:0040283	ORPHA:302
10519	CIB1	HP:0010610	Palmar pits	HP:0040284	OMIM:618267
10519	CIB1	HP:0001051	Seborrheic dermatitis	HP:0040281	ORPHA:302
10519	CIB1	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:302
10519	CIB1	HP:0025092	Epidermal acanthosis	-	OMIM:618267
10519	CIB1	HP:0200035	Skin plaque	HP:0040281	ORPHA:302
10519	CIB1	HP:0200034	Papule	HP:0040281	ORPHA:302
10519	CIB1	HP:0200039	Pustule	HP:0040281	ORPHA:302
10519	CIB1	HP:0200043	Verrucae	24/24	OMIM:618267
10519	CIB1	HP:0200043	Verrucae	HP:0040281	ORPHA:302
10519	CIB1	HP:0003621	Juvenile onset	6/23	OMIM:618267
10519	CIB1	HP:0011463	Childhood onset	16/23	OMIM:618267
10519	CIB1	HP:0011462	Young adult onset	1/23	OMIM:618267
10519	CIB1	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:302
10519	CIB1	HP:0002860	Squamous cell carcinoma	14/21	OMIM:618267
10519	CIB1	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:302
10522	DEAF1	HP:0001169	Broad palm	HP:0040282	ORPHA:819
10522	DEAF1	HP:0001156	Brachydactyly	HP:0040281	ORPHA:819
10522	DEAF1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:819
10522	DEAF1	HP:0007328	Impaired pain sensation	HP:0040282	ORPHA:819
10522	DEAF1	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:819
10522	DEAF1	HP:0034819	Iris nodule	HP:0040283	ORPHA:819
10522	DEAF1	HP:0001270	Motor delay	4/4	OMIM:615828
10522	DEAF1	HP:0001270	Motor delay	3/3	OMIM:617171
10522	DEAF1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:819
10522	DEAF1	HP:0001288	Gait disturbance	4/4	OMIM:615828
10522	DEAF1	HP:0001250	Seizure	HP:0040283	ORPHA:819
10522	DEAF1	HP:0001250	Seizure	HP:0040283	ORPHA:468620
10522	DEAF1	HP:0001252	Hypotonia	HP:0040281	ORPHA:819
10522	DEAF1	HP:0001252	Hypotonia	1/4	OMIM:615828
10522	DEAF1	HP:0001252	Hypotonia	3/3	OMIM:617171
10522	DEAF1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:819
10522	DEAF1	HP:0001249	Intellectual disability	4/4	OMIM:615828
10522	DEAF1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:468620
10522	DEAF1	HP:0001249	Intellectual disability	3/3	OMIM:617171
10522	DEAF1	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:819
10522	DEAF1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:819
10522	DEAF1	HP:0001263	Global developmental delay	4/4	OMIM:615828
10522	DEAF1	HP:0001263	Global developmental delay	3/3	OMIM:617171
10522	DEAF1	HP:0410263	Brain imaging abnormality	HP:0040281	ORPHA:468620
10522	DEAF1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040282	ORPHA:819
10522	DEAF1	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:819
10522	DEAF1	HP:0001212	Prominent fingertip pads	2/4	OMIM:615828
10522	DEAF1	HP:0002515	Waddling gait	HP:0040283	ORPHA:468620
10522	DEAF1	HP:0000069	Abnormality of the ureter	HP:0040283	ORPHA:819
10522	DEAF1	HP:0001387	Joint stiffness	HP:0040283	ORPHA:819
10522	DEAF1	HP:0001382	Joint hypermobility	2/4	OMIM:615828
10522	DEAF1	HP:0032508	Polyembolokoilamania	HP:0040282	ORPHA:819
10522	DEAF1	HP:0032509	Onychotillomania	HP:0040282	ORPHA:819
10522	DEAF1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:819
10522	DEAF1	HP:0001344	Absent speech	3/3	OMIM:617171
10522	DEAF1	HP:0001344	Absent speech	HP:0040283	ORPHA:468620
10522	DEAF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617171
10522	DEAF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615828
10522	DEAF1	HP:0002650	Scoliosis	HP:0040282	ORPHA:819
10522	DEAF1	HP:0000179	Thick lower lip vermilion	3/4	OMIM:615828
10522	DEAF1	HP:0000194	Open mouth	HP:0040282	ORPHA:819
10522	DEAF1	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:819
10522	DEAF1	HP:0000175	Cleft palate	HP:0040283	ORPHA:819
10522	DEAF1	HP:0008947	Floppy infant	HP:0040282	ORPHA:468620
10522	DEAF1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:819
10522	DEAF1	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:819
10522	DEAF1	HP:0002719	Recurrent infections	4/4	OMIM:615828
10522	DEAF1	HP:0002719	Recurrent infections	HP:0040282	ORPHA:468620
10522	DEAF1	HP:0002720	Decreased circulating IgA concentration	HP:0040283	ORPHA:819
10522	DEAF1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:819
10522	DEAF1	HP:0002019	Constipation	HP:0040282	ORPHA:819
10522	DEAF1	HP:0002019	Constipation	HP:0040281	ORPHA:468620
10522	DEAF1	HP:0002007	Frontal bossing	HP:0040281	ORPHA:819
10522	DEAF1	HP:0002007	Frontal bossing	1/4	OMIM:615828
10522	DEAF1	HP:0011800	Midface retrusion	HP:0040281	ORPHA:819
10522	DEAF1	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:819
10522	DEAF1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:819
10522	DEAF1	HP:0002069	Bilateral tonic-clonic seizure	2/3	OMIM:617171
10522	DEAF1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:468620
10522	DEAF1	HP:0002141	Gait imbalance	HP:0040283	ORPHA:468620
10522	DEAF1	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:819
10522	DEAF1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:819
10522	DEAF1	HP:0002136	Broad-based gait	HP:0040282	ORPHA:468620
10522	DEAF1	HP:0002133	Status epilepticus	1/3	OMIM:617171
10522	DEAF1	HP:0002133	Status epilepticus	HP:0040283	ORPHA:468620
10522	DEAF1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:819
10522	DEAF1	HP:0010535	Sleep apnea	HP:0040283	ORPHA:819
10522	DEAF1	HP:0003593	Infantile onset	4/4	OMIM:615828
10522	DEAF1	HP:0003593	Infantile onset	6/6	OMIM:617171
10522	DEAF1	HP:0100710	Impulsivity	HP:0040282	ORPHA:819
10522	DEAF1	HP:0100716	Self-injurious behavior	HP:0040281	ORPHA:819
10522	DEAF1	HP:0002213	Fine hair	3/4	OMIM:615828
10522	DEAF1	HP:0100729	Large face	HP:0040281	ORPHA:819
10522	DEAF1	HP:0007021	Pain insensitivity	3/4	OMIM:615828
10522	DEAF1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040281	ORPHA:819
10522	DEAF1	HP:0032041	Vocal cord polyp	HP:0040282	ORPHA:819
10522	DEAF1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:468620
10522	DEAF1	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:819
10522	DEAF1	HP:0002360	Sleep abnormality	2/4	OMIM:615828
10522	DEAF1	HP:0002360	Sleep abnormality	3/3	OMIM:617171
10522	DEAF1	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:468620
10522	DEAF1	HP:0002376	Developmental regression	2/4	OMIM:615828
10522	DEAF1	HP:0002376	Developmental regression	HP:0040282	ORPHA:468620
10522	DEAF1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:819
10522	DEAF1	HP:0002353	EEG abnormality	3/3	OMIM:617171
10522	DEAF1	HP:0002317	Unsteady gait	HP:0040283	ORPHA:468620
10522	DEAF1	HP:0010832	Abnormality of pain sensation	HP:0040282	ORPHA:468620
10522	DEAF1	HP:0100660	Dyskinesia	3/3	OMIM:617171
10522	DEAF1	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:819
10522	DEAF1	HP:0010804	Tented upper lip vermilion	HP:0040281	ORPHA:819
10522	DEAF1	HP:0010804	Tented upper lip vermilion	3/4	OMIM:615828
10522	DEAF1	HP:0010780	Hyperacusis	HP:0040282	ORPHA:819
10522	DEAF1	HP:0002312	Clumsiness	HP:0040283	ORPHA:468620
10522	DEAF1	HP:0002307	Drooling	3/3	OMIM:617171
10522	DEAF1	HP:0002307	Drooling	HP:0040283	ORPHA:468620
10522	DEAF1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:819
10522	DEAF1	HP:5200360	Short REM sleep	HP:0040282	ORPHA:819
10522	DEAF1	HP:0012689	Abnormal pineal melatonin secretion	HP:0040281	ORPHA:819
10522	DEAF1	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:468620
10522	DEAF1	HP:0000680	Delayed eruption of primary teeth	HP:0040281	ORPHA:819
10522	DEAF1	HP:0000679	Taurodontia	HP:0040281	ORPHA:819
10522	DEAF1	HP:0000664	Synophrys	HP:0040281	ORPHA:819
10522	DEAF1	HP:0004322	Short stature	HP:0040282	ORPHA:819
10522	DEAF1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:819
10522	DEAF1	HP:0004305	Involuntary movements	3/3	OMIM:617171
10522	DEAF1	HP:0004305	Involuntary movements	HP:0040283	ORPHA:468620
10522	DEAF1	HP:0005607	Abnormal tracheobronchial morphology	HP:0040281	ORPHA:819
10522	DEAF1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:819
10522	DEAF1	HP:0000739	Anxiety	HP:0040281	ORPHA:819
10522	DEAF1	HP:0000733	Motor stereotypy	HP:0040281	ORPHA:819
10522	DEAF1	HP:0000733	Motor stereotypy	3/3	OMIM:617171
10522	DEAF1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:819
10522	DEAF1	HP:0000718	Aggressive behavior	3/4	OMIM:615828
10522	DEAF1	HP:0000718	Aggressive behavior	3/3	OMIM:617171
10522	DEAF1	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:468620
10522	DEAF1	HP:0000717	Autism	3/4	OMIM:615828
10522	DEAF1	HP:0000717	Autism	HP:0040282	ORPHA:468620
10522	DEAF1	HP:0000712	Emotional lability	3/4	OMIM:615828
10522	DEAF1	HP:0000712	Emotional lability	3/3	OMIM:617171
10522	DEAF1	HP:0000712	Emotional lability	HP:0040282	ORPHA:468620
10522	DEAF1	HP:0000713	Agitation	3/3	OMIM:617171
10522	DEAF1	HP:0000713	Agitation	HP:0040283	ORPHA:468620
10522	DEAF1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:468620
10522	DEAF1	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:819
10522	DEAF1	HP:0005709	2-3 toe cutaneous syndactyly	2/4	OMIM:615828
10522	DEAF1	HP:0003196	Short nose	HP:0040282	ORPHA:819
10522	DEAF1	HP:0000817	Reduced eye contact	3/4	OMIM:615828
10522	DEAF1	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:468620
10522	DEAF1	HP:0000826	Precocious puberty	HP:0040283	ORPHA:819
10522	DEAF1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:819
10522	DEAF1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:819
10522	DEAF1	HP:0000960	Sacral dimple	2/4	OMIM:615828
10522	DEAF1	HP:0011675	Arrhythmia	HP:0040283	ORPHA:819
10522	DEAF1	HP:0000286	Epicanthus	1/4	OMIM:615828
10522	DEAF1	HP:0000280	Coarse facial features	HP:0040282	ORPHA:819
10522	DEAF1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:468620
10522	DEAF1	HP:0000252	Microcephaly	HP:0040283	ORPHA:819
10522	DEAF1	HP:0000252	Microcephaly	HP:0040282	ORPHA:468620
10522	DEAF1	HP:0000248	Brachycephaly	HP:0040281	ORPHA:819
10522	DEAF1	HP:0000248	Brachycephaly	1/4	OMIM:615828
10522	DEAF1	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:819
10522	DEAF1	HP:0000218	High palate	1/4	OMIM:615828
10522	DEAF1	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:819
10522	DEAF1	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:819
10522	DEAF1	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:819
10522	DEAF1	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:819
10522	DEAF1	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:468620
10522	DEAF1	HP:0001513	Obesity	HP:0040281	ORPHA:819
10522	DEAF1	HP:0012368	Flat face	1/4	OMIM:615828
10522	DEAF1	HP:0001609	Hoarse voice	HP:0040281	ORPHA:819
10522	DEAF1	HP:0000337	Broad forehead	HP:0040281	ORPHA:819
10522	DEAF1	HP:0000349	Widow's peak	1/4	OMIM:615828
10522	DEAF1	HP:0000347	Micrognathia	HP:0040282	ORPHA:819
10522	DEAF1	HP:0000321	Square face	HP:0040282	ORPHA:819
10522	DEAF1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:819
10522	DEAF1	HP:0000322	Short philtrum	HP:0040282	ORPHA:819
10522	DEAF1	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:819
10522	DEAF1	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:819
10522	DEAF1	HP:0000303	Mandibular prognathia	3/4	OMIM:615828
10522	DEAF1	HP:0000403	Recurrent otitis media	HP:0040281	ORPHA:819
10522	DEAF1	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:819
10522	DEAF1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:819
10522	DEAF1	HP:0000486	Strabismus	HP:0040282	ORPHA:819
10522	DEAF1	HP:0000482	Microcornea	HP:0040282	ORPHA:819
10522	DEAF1	HP:0000490	Deeply set eye	HP:0040281	ORPHA:819
10522	DEAF1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:819
10522	DEAF1	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:819
10522	DEAF1	HP:0001763	Pes planus	HP:0040282	ORPHA:819
10522	DEAF1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:819
10522	DEAF1	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:819
10522	DEAF1	HP:0000582	Upslanted palpebral fissure	1/4	OMIM:615828
10522	DEAF1	HP:0011228	Horizontal eyebrow	4/4	OMIM:615828
10522	DEAF1	HP:0000541	Retinal detachment	HP:0040283	ORPHA:819
10522	DEAF1	HP:0000545	Myopia	HP:0040282	ORPHA:819
10524	KAT5	HP:0025161	Frequent temper tantrums	1/3	OMIM:619103
10524	KAT5	HP:0010864	Intellectual disability, severe	3/3	OMIM:619103
10524	KAT5	HP:0001272	Cerebellar atrophy	2/3	OMIM:619103
10524	KAT5	HP:0001250	Seizure	3/3	OMIM:619103
10524	KAT5	HP:0001263	Global developmental delay	3/3	OMIM:619103
10524	KAT5	HP:0000085	Horseshoe kidney	1/3	OMIM:619103
10524	KAT5	HP:0000076	Vesicoureteral reflux	1/3	OMIM:619103
10524	KAT5	HP:0000047	Hypospadias	1/2	OMIM:619103
10524	KAT5	HP:0000028	Cryptorchidism	2/2	OMIM:619103
10524	KAT5	HP:0000010	Recurrent urinary tract infections	1/3	OMIM:619103
10524	KAT5	HP:0001338	Partial agenesis of the corpus callosum	1/3	OMIM:619103
10524	KAT5	HP:0000006	Autosomal dominant inheritance	-	OMIM:619103
10524	KAT5	HP:0032471	Focal polymicrogyria	1/3	OMIM:619103
10524	KAT5	HP:0000179	Thick lower lip vermilion	1/3	OMIM:619103
10524	KAT5	HP:0012168	Head-banging	1/3	OMIM:619103
10524	KAT5	HP:0000176	Submucous cleft hard palate	1/3	OMIM:619103
10524	KAT5	HP:0000154	Wide mouth	1/3	OMIM:619103
10524	KAT5	HP:0003577	Congenital onset	-	OMIM:619103
10524	KAT5	HP:0007018	Attention deficit hyperactivity disorder	2/3	OMIM:619103
10524	KAT5	HP:0002360	Sleep abnormality	2/3	OMIM:619103
10524	KAT5	HP:0006989	Dysplastic corpus callosum	1/3	OMIM:619103
10524	KAT5	HP:0000733	Motor stereotypy	1/3	OMIM:619103
10524	KAT5	HP:0100333	Unilateral cleft lip	1/3	OMIM:619103
10524	KAT5	HP:0100334	Unilateral cleft palate	1/3	OMIM:619103
10524	KAT5	HP:0000252	Microcephaly	2/3	OMIM:619103
10524	KAT5	HP:0012368	Flat face	2/3	OMIM:619103
10524	KAT5	HP:0007874	Almond-shaped palpebral fissure	1/3	OMIM:619103
10524	KAT5	HP:0005164	Dysplastic pulmonary valve	1/3	OMIM:619103
10524	KAT5	HP:0011003	High myopia	1/3	OMIM:619103
10524	KAT5	HP:0000369	Low-set ears	1/3	OMIM:619103
10524	KAT5	HP:0000311	Round face	2/3	OMIM:619103
10524	KAT5	HP:0001629	Ventricular septal defect	1/3	OMIM:619103
10524	KAT5	HP:0000303	Mandibular prognathia	1/3	OMIM:619103
10524	KAT5	HP:0005338	Sparse lateral eyebrow	1/3	OMIM:619103
10524	KAT5	HP:0005280	Depressed nasal bridge	1/3	OMIM:619103
10524	KAT5	HP:0000486	Strabismus	1/3	OMIM:619103
10524	KAT5	HP:0000494	Downslanted palpebral fissures	1/3	OMIM:619103
10524	KAT5	HP:0000414	Bulbous nose	1/3	OMIM:619103
10524	KAT5	HP:0011225	Epiblepharon	1/3	OMIM:619103
10524	KAT5	HP:0000540	Hypermetropia	1/3	OMIM:619103
10525	HYOU1	HP:0009890	High anterior hairline	1/1	OMIM:233600
10525	HYOU1	HP:0100806	Sepsis	1/1	OMIM:233600
10525	HYOU1	HP:0001238	Slender finger	1/1	OMIM:233600
10525	HYOU1	HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	1/1	OMIM:233600
10525	HYOU1	HP:0012089	Arteritis	1/1	OMIM:233600
10525	HYOU1	HP:0000007	Autosomal recessive inheritance	-	OMIM:233600
10525	HYOU1	HP:0002783	Recurrent lower respiratory tract infections	1/1	OMIM:233600
10525	HYOU1	HP:0002788	Recurrent upper respiratory tract infections	1/1	OMIM:233600
10525	HYOU1	HP:0002721	Immunodeficiency	1/1	OMIM:233600
10525	HYOU1	HP:0002024	Malabsorption	1/1	OMIM:233600
10525	HYOU1	HP:0002028	Chronic diarrhea	1/1	OMIM:233600
10525	HYOU1	HP:0002240	Hepatomegaly	1/1	OMIM:233600
10525	HYOU1	HP:0003623	Neonatal onset	1/1	OMIM:233600
10525	HYOU1	HP:0001943	Hypoglycemia	1/1	OMIM:233600
10525	HYOU1	HP:0004322	Short stature	1/1	OMIM:233600
10525	HYOU1	HP:0004313	Decreased circulating immunoglobulin concentration	0/1	OMIM:233600
10525	HYOU1	HP:0000768	Pectus carinatum	1/1	OMIM:233600
10525	HYOU1	HP:0040154	Acne inversa	1/1	OMIM:233600
10525	HYOU1	HP:0000275	Narrow face	1/1	OMIM:233600
10525	HYOU1	HP:0001581	Recurrent skin infections	1/1	OMIM:233600
10525	HYOU1	HP:0000218	High palate	1/1	OMIM:233600
10525	HYOU1	HP:0006579	Prolonged neonatal jaundice	1/1	OMIM:233600
10525	HYOU1	HP:0000347	Micrognathia	1/1	OMIM:233600
10525	HYOU1	HP:0012302	Herpes simplex encephalitis	1/1	OMIM:233600
10525	HYOU1	HP:0000300	Oval face	1/1	OMIM:233600
10525	HYOU1	HP:0000460	Narrow nose	1/1	OMIM:233600
10525	HYOU1	HP:0011107	Recurrent aphthous stomatitis	1/1	OMIM:233600
10525	HYOU1	HP:0000431	Wide nasal bridge	1/1	OMIM:233600
10525	HYOU1	HP:0030388	Decreased class-switched memory B cell proportion	1/1	OMIM:233600
10526	IPO8	HP:0009901	Crumpled ear	90/119	OMIM:121050
10526	IPO8	HP:0001181	Adducted thumb	42/90	OMIM:121050
10526	IPO8	HP:0025116	Fetal distress	1/9	OMIM:619472
10526	IPO8	HP:0001166	Arachnodactyly	104/124	OMIM:121050
10526	IPO8	HP:0001166	Arachnodactyly	124/197	OMIM:154700
10526	IPO8	HP:0001166	Arachnodactyly	12/19	OMIM:619472
10526	IPO8	HP:0001166	Arachnodactyly	34/37	OMIM:182212
10526	IPO8	HP:0001166	Arachnodactyly	6/15	OMIM:208050
10526	IPO8	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:60030
10526	IPO8	HP:0410151	Eosinophilic infiltration of the esophagus	HP:0040283	ORPHA:60030
10526	IPO8	HP:0003745	Sporadic	-	OMIM:182212
10526	IPO8	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
10526	IPO8	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
10526	IPO8	HP:0001290	Generalized hypotonia	-	OMIM:208050
10526	IPO8	HP:0001290	Generalized hypotonia	-	OMIM:182212
10526	IPO8	HP:0100802	Malposition of the stomach	1/9	OMIM:619472
10526	IPO8	HP:0001270	Motor delay	7/7	OMIM:619472
10526	IPO8	HP:0001270	Motor delay	-	OMIM:121050
10526	IPO8	HP:0001252	Hypotonia	13/16	OMIM:619472
10526	IPO8	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
10526	IPO8	HP:0001252	Hypotonia	26/37	OMIM:182212
10526	IPO8	HP:0001249	Intellectual disability	9/19	OMIM:619472
10526	IPO8	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
10526	IPO8	HP:0001249	Intellectual disability	-	OMIM:182212
10526	IPO8	HP:0001263	Global developmental delay	6/9	OMIM:619472
10526	IPO8	HP:0001263	Global developmental delay	-	OMIM:182212
10526	IPO8	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
10526	IPO8	HP:0002566	Intestinal malrotation	2/9	OMIM:619472
10526	IPO8	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
10526	IPO8	HP:0007394	Prominent superficial blood vessels	1/9	OMIM:619472
10526	IPO8	HP:0410323	Drug allergy	1/12	OMIM:619472
10526	IPO8	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
10526	IPO8	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
10526	IPO8	HP:0000098	Tall stature	-	OMIM:154700
10526	IPO8	HP:0000098	Tall stature	HP:0040282	ORPHA:60030
10526	IPO8	HP:0001377	Limited elbow extension	94/109	OMIM:121050
10526	IPO8	HP:0001377	Limited elbow extension	29/199	OMIM:154700
10526	IPO8	HP:0001371	Flexion contracture	-	OMIM:208050
10526	IPO8	HP:0001371	Flexion contracture	-	OMIM:154700
10526	IPO8	HP:0001373	Joint dislocation	HP:0040283	ORPHA:60030
10526	IPO8	HP:0001385	Hip dysplasia	1/9	OMIM:619472
10526	IPO8	HP:0001382	Joint hypermobility	1/1	OMIM:130050
10526	IPO8	HP:0001382	Joint hypermobility	26/37	OMIM:619472
10526	IPO8	HP:0001382	Joint hypermobility	12/14	OMIM:208050
10526	IPO8	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:60030
10526	IPO8	HP:0001382	Joint hypermobility	11/53	OMIM:154700
10526	IPO8	HP:0001382	Joint hypermobility	31/47	OMIM:182212
10526	IPO8	HP:0000023	Inguinal hernia	11/11	OMIM:130050
10526	IPO8	HP:0000023	Inguinal hernia	6/19	OMIM:619472
10526	IPO8	HP:0000023	Inguinal hernia	8/15	OMIM:208050
10526	IPO8	HP:0000023	Inguinal hernia	19/34	OMIM:182212
10526	IPO8	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:60030
10526	IPO8	HP:0001363	Craniosynostosis	18/37	OMIM:182212
10526	IPO8	HP:0000028	Cryptorchidism	1/1	OMIM:130050
10526	IPO8	HP:0000028	Cryptorchidism	1/13	OMIM:182212
10526	IPO8	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
10526	IPO8	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
10526	IPO8	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
10526	IPO8	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
10526	IPO8	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
10526	IPO8	HP:0000007	Autosomal recessive inheritance	-	OMIM:619472
10526	IPO8	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
10526	IPO8	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
10526	IPO8	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
10526	IPO8	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
10526	IPO8	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
10526	IPO8	HP:0002650	Scoliosis	12/19	OMIM:619472
10526	IPO8	HP:0002650	Scoliosis	16/53	OMIM:154700
10526	IPO8	HP:0002650	Scoliosis	11/15	OMIM:121050
10526	IPO8	HP:0002650	Scoliosis	3/15	OMIM:208050
10526	IPO8	HP:0002650	Scoliosis	HP:0040282	ORPHA:60030
10526	IPO8	HP:0002650	Scoliosis	23/37	OMIM:182212
10526	IPO8	HP:0002647	Aortic dissection	1/58	OMIM:154700
10526	IPO8	HP:0002647	Aortic dissection	HP:0040281	ORPHA:60030
10526	IPO8	HP:0002619	Varicose veins	-	OMIM:130050
10526	IPO8	HP:0002616	Aortic root aneurysm	17/19	OMIM:619472
10526	IPO8	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
10526	IPO8	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
10526	IPO8	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
10526	IPO8	HP:0002617	Vascular dilatation	HP:0040281	ORPHA:60030
10526	IPO8	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
10526	IPO8	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
10526	IPO8	HP:0002608	Celiac disease	2/12	OMIM:619472
10526	IPO8	HP:0000189	Narrow palate	-	OMIM:182212
10526	IPO8	HP:0000189	Narrow palate	-	OMIM:154700
10526	IPO8	HP:0000185	Cleft soft palate	1/9	OMIM:619472
10526	IPO8	HP:0000193	Bifid uvula	5/28	OMIM:619472
10526	IPO8	HP:0000193	Bifid uvula	0/14	OMIM:208050
10526	IPO8	HP:0000193	Bifid uvula	HP:0040282	ORPHA:60030
10526	IPO8	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
10526	IPO8	HP:0012163	Carotid artery dilatation	1/7	OMIM:619472
10526	IPO8	HP:0012151	Hemothorax	3/4	OMIM:130050
10526	IPO8	HP:0000158	Macroglossia	1/9	OMIM:619472
10526	IPO8	HP:0000175	Cleft palate	HP:0040282	ORPHA:60030
10526	IPO8	HP:0000139	Uterine prolapse	-	OMIM:130050
10526	IPO8	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
10526	IPO8	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
10526	IPO8	HP:0002705	High, narrow palate	2/9	OMIM:619472
10526	IPO8	HP:0031298	Coronary sinus enlargement	1/7	OMIM:619472
10526	IPO8	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
10526	IPO8	HP:0000126	Hydronephrosis	6/21	OMIM:619472
10526	IPO8	HP:0002761	Generalized joint hypermobility	1/9	OMIM:619472
10526	IPO8	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
10526	IPO8	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
10526	IPO8	HP:0002720	Decreased circulating IgA concentration	3/4	OMIM:619472
10526	IPO8	HP:0002020	Gastroesophageal reflux	2/9	OMIM:619472
10526	IPO8	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
10526	IPO8	HP:0002036	Hiatus hernia	-	OMIM:208050
10526	IPO8	HP:0002028	Chronic diarrhea	1/9	OMIM:619472
10526	IPO8	HP:0002015	Dysphagia	1/9	OMIM:619472
10526	IPO8	HP:0002007	Frontal bossing	-	OMIM:121050
10526	IPO8	HP:0002007	Frontal bossing	9/19	OMIM:619472
10526	IPO8	HP:0002007	Frontal bossing	-	OMIM:182212
10526	IPO8	HP:0003316	Butterfly vertebrae	1/7	OMIM:619472
10526	IPO8	HP:0003302	Spondylolisthesis	-	OMIM:154700
10526	IPO8	HP:0011819	Submucous cleft soft palate	1/7	OMIM:619472
10526	IPO8	HP:0002099	Asthma	4/12	OMIM:619472
10526	IPO8	HP:0002099	Asthma	HP:0040282	ORPHA:60030
10526	IPO8	HP:0002097	Emphysema	1/9	OMIM:619472
10526	IPO8	HP:0002097	Emphysema	8/9	OMIM:130050
10526	IPO8	HP:0002097	Emphysema	HP:0040283	OMIM:154700
10526	IPO8	HP:0002094	Dyspnea	1/9	OMIM:619472
10526	IPO8	HP:0002092	Pulmonary arterial hypertension	2/9	OMIM:619472
10526	IPO8	HP:0030961	Microspherophakia	2/53	OMIM:154700
10526	IPO8	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
10526	IPO8	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
10526	IPO8	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
10526	IPO8	HP:0033117	Duodenitis	1/12	OMIM:619472
10526	IPO8	HP:0010499	Patellar subluxation	12/22	OMIM:121050
10526	IPO8	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
10526	IPO8	HP:0002140	Ischemic stroke	-	OMIM:208050
10526	IPO8	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
10526	IPO8	HP:0002108	Spontaneous pneumothorax	HP:0040283	ORPHA:60030
10526	IPO8	HP:0002107	Pneumothorax	2/2	OMIM:130050
10526	IPO8	HP:0002107	Pneumothorax	6/53	OMIM:154700
10526	IPO8	HP:0002107	Pneumothorax	1/9	OMIM:619472
10526	IPO8	HP:0002105	Hemoptysis	6/10	OMIM:130050
10526	IPO8	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
10526	IPO8	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:60030
10526	IPO8	HP:0010511	Long toe	1/7	OMIM:619472
10526	IPO8	HP:0003593	Infantile onset	5/16	OMIM:208050
10526	IPO8	HP:0003577	Congenital onset	7/7	OMIM:619472
10526	IPO8	HP:0003577	Congenital onset	5/5	OMIM:121050
10526	IPO8	HP:0003577	Congenital onset	12/26	OMIM:208050
10526	IPO8	HP:0100718	Uterine rupture	-	OMIM:130050
10526	IPO8	HP:0100718	Uterine rupture	HP:0040281	ORPHA:60030
10526	IPO8	HP:0004872	Incisional hernia	-	OMIM:154700
10526	IPO8	HP:0002209	Sparse scalp hair	1/9	OMIM:619472
10526	IPO8	HP:0100775	Dural ectasia	112/140	OMIM:154700
10526	IPO8	HP:0100749	Chest pain	1/2	OMIM:130050
10526	IPO8	HP:0002293	Alopecia of scalp	-	OMIM:130050
10526	IPO8	HP:0034671	Knee contracture	7/14	OMIM:121050
10526	IPO8	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
10526	IPO8	HP:0010648	Dermal translucency	3/3	OMIM:130050
10526	IPO8	HP:0011968	Feeding difficulties	2/9	OMIM:619472
10526	IPO8	HP:0032061	Severely increased total eosinophil count	4/5	OMIM:619472
10526	IPO8	HP:0007099	Chiari type I malformation	-	OMIM:182212
10526	IPO8	HP:0025019	Arterial rupture	-	OMIM:130050
10526	IPO8	HP:0001065	Striae distensae	11/53	OMIM:154700
10526	IPO8	HP:0001065	Striae distensae	HP:0040282	ORPHA:60030
10526	IPO8	HP:0001030	Fragile skin	-	OMIM:130050
10526	IPO8	HP:0001027	Soft, doughy skin	-	OMIM:208050
10526	IPO8	HP:0001047	Atopic dermatitis	1/9	OMIM:619472
10526	IPO8	HP:0002376	Developmental regression	1/9	OMIM:619472
10526	IPO8	HP:0001007	Hirsutism	1/9	OMIM:619472
10526	IPO8	HP:0100645	Cystocele	-	OMIM:130050
10526	IPO8	HP:0010809	Broad uvula	1/7	OMIM:619472
10526	IPO8	HP:0001073	Cigarette-paper scars	-	OMIM:130050
10526	IPO8	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
10526	IPO8	HP:0001083	Ectopia lentis	119/251	OMIM:154700
10526	IPO8	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
10526	IPO8	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
10526	IPO8	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
10526	IPO8	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
10526	IPO8	HP:0003623	Neonatal onset	3/16	OMIM:208050
10526	IPO8	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
10526	IPO8	HP:0004970	Ascending tubular aorta aneurysm	6/6	OMIM:619472
10526	IPO8	HP:0004938	Tortuous cerebral arteries	1/9	OMIM:619472
10526	IPO8	HP:0004937	Pulmonary artery aneurysm	1/7	OMIM:619472
10526	IPO8	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
10526	IPO8	HP:0003621	Juvenile onset	2/16	OMIM:208050
10526	IPO8	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
10526	IPO8	HP:0004944	Dilatation of the cerebral artery	1/7	OMIM:619472
10526	IPO8	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
10526	IPO8	HP:0004942	Aortic aneurysm	HP:0040281	ORPHA:60030
10526	IPO8	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
10526	IPO8	HP:0031869	Recurrent joint dislocation	7/12	OMIM:619472
10526	IPO8	HP:4000067	Iliac artery aneurysm	2/12	OMIM:619472
10526	IPO8	HP:0000639	Nystagmus	1/9	OMIM:619472
10526	IPO8	HP:0000637	Long palpebral fissure	1/9	OMIM:619472
10526	IPO8	HP:0001977	Abnormal thrombosis	-	OMIM:208050
10526	IPO8	HP:0001903	Anemia	1/1	OMIM:130050
10526	IPO8	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
10526	IPO8	HP:0000678	Dental crowding	8/53	OMIM:154700
10526	IPO8	HP:0000689	Dental malocclusion	-	OMIM:182212
10526	IPO8	HP:0000656	Ectropion	1/9	OMIM:619472
10526	IPO8	HP:0004322	Short stature	-	OMIM:130050
10526	IPO8	HP:0004322	Short stature	2/9	OMIM:619472
10526	IPO8	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
10526	IPO8	HP:0003088	Premature osteoarthritis	-	OMIM:154700
10526	IPO8	HP:0003083	Dislocated radial head	5/37	OMIM:182212
10526	IPO8	HP:0003066	Limited knee extension	38/45	OMIM:121050
10526	IPO8	HP:0003042	Elbow dislocation	1/12	OMIM:121050
10526	IPO8	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
10526	IPO8	HP:0005684	Distal arthrogryposis	-	OMIM:121050
10526	IPO8	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
10526	IPO8	HP:0000767	Pectus excavatum	2/14	OMIM:121050
10526	IPO8	HP:0000767	Pectus excavatum	1/4	OMIM:130050
10526	IPO8	HP:0000767	Pectus excavatum	11/28	OMIM:619472
10526	IPO8	HP:0000767	Pectus excavatum	3/15	OMIM:208050
10526	IPO8	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:60030
10526	IPO8	HP:0000767	Pectus excavatum	44/146	OMIM:154700
10526	IPO8	HP:0000767	Pectus excavatum	-	OMIM:182212
10526	IPO8	HP:0000768	Pectus carinatum	4/14	OMIM:121050
10526	IPO8	HP:0000768	Pectus carinatum	2/15	OMIM:208050
10526	IPO8	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:60030
10526	IPO8	HP:0000768	Pectus carinatum	58/146	OMIM:154700
10526	IPO8	HP:0000768	Pectus carinatum	4/21	OMIM:619472
10526	IPO8	HP:0000768	Pectus carinatum	-	OMIM:182212
10526	IPO8	HP:0000704	Periodontitis	-	OMIM:130050
10526	IPO8	HP:0011463	Childhood onset	1/16	OMIM:208050
10526	IPO8	HP:0011462	Young adult onset	3/16	OMIM:208050
10526	IPO8	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
10526	IPO8	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
10526	IPO8	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
10526	IPO8	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
10526	IPO8	HP:0030799	Scaphocephaly	-	OMIM:121050
10526	IPO8	HP:0003199	Decreased muscle mass	-	OMIM:154700
10526	IPO8	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
10526	IPO8	HP:0100310	Epidural hemorrhage	1/9	OMIM:619472
10526	IPO8	HP:0004459	Exostosis of the external auditory canal	1/9	OMIM:619472
10526	IPO8	HP:0000883	Thin ribs	-	OMIM:182212
10526	IPO8	HP:0100348	Contracture of the proximal interphalangeal joint of the 2nd toe	1/7	OMIM:619472
10526	IPO8	HP:0000822	Hypertension	-	OMIM:208050
10526	IPO8	HP:0000821	Hypothyroidism	1/9	OMIM:619472
10526	IPO8	HP:0010297	Bifid tongue	1/9	OMIM:619472
10526	IPO8	HP:0011587	Abnormal branching pattern of the aortic arch	1/9	OMIM:619472
10526	IPO8	HP:0011595	Left aortic arch with retroesophageal right subclavian artery	1/9	OMIM:619472
10526	IPO8	HP:0000895	Lateral clavicle hook	-	OMIM:182212
10526	IPO8	HP:0003237	Increased circulating IgG concentration	3/3	OMIM:619472
10526	IPO8	HP:0003212	Increased circulating IgE concentration	3/3	OMIM:619472
10526	IPO8	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
10526	IPO8	HP:0034391	Elbow contracture	10/14	OMIM:121050
10526	IPO8	HP:0003273	Hip contracture	32/121	OMIM:121050
10526	IPO8	HP:0003270	Abdominal distention	1/9	OMIM:619472
10526	IPO8	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
10526	IPO8	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
10526	IPO8	HP:0000978	Bruising susceptibility	2/7	OMIM:619472
10526	IPO8	HP:0000978	Bruising susceptibility	-	OMIM:208050
10526	IPO8	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:60030
10526	IPO8	HP:0000977	Soft skin	7/15	OMIM:208050
10526	IPO8	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
10526	IPO8	HP:0000974	Hyperextensible skin	9/21	OMIM:619472
10526	IPO8	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
10526	IPO8	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
10526	IPO8	HP:0000973	Cutis laxa	2/9	OMIM:619472
10526	IPO8	HP:0000973	Cutis laxa	5/14	OMIM:208050
10526	IPO8	HP:0000987	Atypical scarring of skin	HP:0040282	ORPHA:60030
10526	IPO8	HP:0000964	Eczematoid dermatitis	3/12	OMIM:619472
10526	IPO8	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:60030
10526	IPO8	HP:0000963	Thin skin	4/13	OMIM:208050
10526	IPO8	HP:0000963	Thin skin	HP:0040283	ORPHA:60030
10526	IPO8	HP:0000938	Osteopenia	-	OMIM:121050
10526	IPO8	HP:0000938	Osteopenia	-	OMIM:182212
10526	IPO8	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
10526	IPO8	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
10526	IPO8	HP:0025586	Hypertropia	8/573	OMIM:154700
10526	IPO8	HP:0000278	Retrognathia	-	OMIM:154700
10526	IPO8	HP:0000278	Retrognathia	6/7	OMIM:619472
10526	IPO8	HP:0001596	Alopecia	1/9	OMIM:619472
10526	IPO8	HP:0000260	Wide anterior fontanel	-	OMIM:182212
10526	IPO8	HP:0000275	Narrow face	-	OMIM:154700
10526	IPO8	HP:0000276	Long face	14/14	OMIM:208050
10526	IPO8	HP:0000276	Long face	-	OMIM:154700
10526	IPO8	HP:0000272	Malar flattening	9/14	OMIM:208050
10526	IPO8	HP:0000272	Malar flattening	HP:0040282	ORPHA:60030
10526	IPO8	HP:0000272	Malar flattening	31/53	OMIM:154700
10526	IPO8	HP:0000268	Dolichocephaly	-	OMIM:121050
10526	IPO8	HP:0000268	Dolichocephaly	36/53	OMIM:154700
10526	IPO8	HP:0000268	Dolichocephaly	5/7	OMIM:619472
10526	IPO8	HP:0000268	Dolichocephaly	28/37	OMIM:182212
10526	IPO8	HP:0005136	Mitral annular calcification	-	OMIM:154700
10526	IPO8	HP:0005133	Right ventricular dilatation	1/9	OMIM:619472
10526	IPO8	HP:0005116	Arterial tortuosity	HP:0040281	ORPHA:60030
10526	IPO8	HP:0005116	Arterial tortuosity	2/2	OMIM:619472
10526	IPO8	HP:0002816	Genu recurvatum	-	OMIM:182212
10526	IPO8	HP:0002816	Genu recurvatum	-	OMIM:154700
10526	IPO8	HP:0002827	Hip dislocation	1/7	OMIM:619472
10526	IPO8	HP:0002808	Kyphosis	1/7	OMIM:619472
10526	IPO8	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
10526	IPO8	HP:0000244	Brachyturricephaly	-	OMIM:182212
10526	IPO8	HP:0000238	Hydrocephalus	13/37	OMIM:182212
10526	IPO8	HP:0000252	Microcephaly	1/9	OMIM:619472
10526	IPO8	HP:0000252	Microcephaly	6/37	OMIM:182212
10526	IPO8	HP:0000248	Brachycephaly	-	OMIM:121050
10526	IPO8	HP:0000248	Brachycephaly	1/9	OMIM:619472
10526	IPO8	HP:0000218	High palate	7/16	OMIM:619472
10526	IPO8	HP:0000218	High palate	34/53	OMIM:154700
10526	IPO8	HP:0000218	High palate	30/102	OMIM:121050
10526	IPO8	HP:0000218	High palate	5/13	OMIM:208050
10526	IPO8	HP:0000218	High palate	30/37	OMIM:182212
10526	IPO8	HP:0001561	Polyhydramnios	1/9	OMIM:619472
10526	IPO8	HP:0000233	Thin vermilion border	-	OMIM:130050
10526	IPO8	HP:0030009	Cervical insufficiency	-	OMIM:130050
10526	IPO8	HP:0002857	Genu valgum	1/9	OMIM:619472
10526	IPO8	HP:0002857	Genu valgum	4/37	OMIM:182212
10526	IPO8	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
10526	IPO8	HP:0001537	Umbilical hernia	-	OMIM:208050
10526	IPO8	HP:0001537	Umbilical hernia	18/28	OMIM:619472
10526	IPO8	HP:0001537	Umbilical hernia	13/37	OMIM:182212
10526	IPO8	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:60030
10526	IPO8	HP:0031364	Ecchymosis	-	OMIM:130050
10526	IPO8	HP:0001508	Failure to thrive	5/9	OMIM:619472
10526	IPO8	HP:0001519	Disproportionate tall stature	-	OMIM:121050
10526	IPO8	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
10526	IPO8	HP:0007800	Increased axial length of the globe	-	OMIM:154700
10526	IPO8	HP:0012385	Camptodactyly	86/110	OMIM:121050
10526	IPO8	HP:0012385	Camptodactyly	19/53	OMIM:154700
10526	IPO8	HP:0012385	Camptodactyly	24/37	OMIM:182212
10526	IPO8	HP:0000387	Absent earlobe	-	OMIM:130050
10526	IPO8	HP:0000378	Cupped ear	1/9	OMIM:619472
10526	IPO8	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
10526	IPO8	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
10526	IPO8	HP:0005231	Chronic gastritis	2/12	OMIM:619472
10526	IPO8	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
10526	IPO8	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
10526	IPO8	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
10526	IPO8	HP:0006480	Premature loss of teeth	-	OMIM:130050
10526	IPO8	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
10526	IPO8	HP:0001695	Cardiac arrest	HP:0040283	ORPHA:60030
10526	IPO8	HP:0000358	Posteriorly rotated ears	1/9	OMIM:619472
10526	IPO8	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
10526	IPO8	HP:0011003	High myopia	7/12	OMIM:619472
10526	IPO8	HP:0000369	Low-set ears	1/9	OMIM:619472
10526	IPO8	HP:0000369	Low-set ears	32/37	OMIM:182212
10526	IPO8	HP:0000343	Long philtrum	-	OMIM:208050
10526	IPO8	HP:0002999	Patellar dislocation	2/20	OMIM:121050
10526	IPO8	HP:0001667	Right ventricular hypertrophy	1/9	OMIM:619472
10526	IPO8	HP:0000347	Micrognathia	8/21	OMIM:619472
10526	IPO8	HP:0000347	Micrognathia	-	OMIM:154700
10526	IPO8	HP:0000347	Micrognathia	26/94	OMIM:121050
10526	IPO8	HP:0000347	Micrognathia	5/14	OMIM:208050
10526	IPO8	HP:0000347	Micrognathia	HP:0040282	ORPHA:60030
10526	IPO8	HP:0000347	Micrognathia	33/37	OMIM:182212
10526	IPO8	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
10526	IPO8	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
10526	IPO8	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
10526	IPO8	HP:0000316	Hypertelorism	13/28	OMIM:619472
10526	IPO8	HP:0000316	Hypertelorism	6/16	OMIM:208050
10526	IPO8	HP:0000316	Hypertelorism	HP:0040282	ORPHA:60030
10526	IPO8	HP:0000316	Hypertelorism	28/37	OMIM:182212
10526	IPO8	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
10526	IPO8	HP:0001643	Patent ductus arteriosus	5/16	OMIM:619472
10526	IPO8	HP:0001643	Patent ductus arteriosus	HP:0040281	ORPHA:60030
10526	IPO8	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
10526	IPO8	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
10526	IPO8	HP:0001659	Aortic regurgitation	-	OMIM:208050
10526	IPO8	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
10526	IPO8	HP:0001653	Mitral regurgitation	-	OMIM:121050
10526	IPO8	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
10526	IPO8	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:60030
10526	IPO8	HP:0001655	Patent foramen ovale	1/9	OMIM:619472
10526	IPO8	HP:0001629	Ventricular septal defect	-	OMIM:121050
10526	IPO8	HP:0001629	Ventricular septal defect	9/28	OMIM:619472
10526	IPO8	HP:0000308	Microretrognathia	1/9	OMIM:619472
10526	IPO8	HP:0001635	Congestive heart failure	-	OMIM:154700
10526	IPO8	HP:0001631	Atrial septal defect	-	OMIM:121050
10526	IPO8	HP:0001631	Atrial septal defect	9/28	OMIM:619472
10526	IPO8	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
10526	IPO8	HP:0001634	Mitral valve prolapse	-	OMIM:130050
10526	IPO8	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
10526	IPO8	HP:0001634	Mitral valve prolapse	3/21	OMIM:619472
10526	IPO8	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
10526	IPO8	HP:0005302	Carotid artery tortuosity	4/12	OMIM:619472
10526	IPO8	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
10526	IPO8	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
10526	IPO8	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
10526	IPO8	HP:0006687	Aortic tortuosity	2/2	OMIM:619472
10526	IPO8	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
10526	IPO8	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
10526	IPO8	HP:0000400	Macrotia	7/15	OMIM:208050
10526	IPO8	HP:0000400	Macrotia	1/9	OMIM:619472
10526	IPO8	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
10526	IPO8	HP:0001719	Double outlet right ventricle	1/9	OMIM:619472
10526	IPO8	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
10526	IPO8	HP:0005294	Arterial dissection	HP:0040281	ORPHA:60030
10526	IPO8	HP:0005280	Depressed nasal bridge	1/9	OMIM:619472
10526	IPO8	HP:0000483	Astigmatism	3/53	OMIM:154700
10526	IPO8	HP:0000483	Astigmatism	5/15	OMIM:208050
10526	IPO8	HP:0000486	Strabismus	110/573	OMIM:154700
10526	IPO8	HP:0000486	Strabismus	17/37	OMIM:182212
10526	IPO8	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
10526	IPO8	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
10526	IPO8	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
10526	IPO8	HP:0000490	Deeply set eye	25/63	OMIM:154700
10526	IPO8	HP:0000490	Deeply set eye	1/9	OMIM:619472
10526	IPO8	HP:0000463	Anteverted nares	9/37	OMIM:182212
10526	IPO8	HP:0012450	Chronic constipation	1/9	OMIM:619472
10526	IPO8	HP:0001786	Narrow foot	33/53	OMIM:154700
10526	IPO8	HP:0000470	Short neck	-	OMIM:121050
10526	IPO8	HP:0001763	Pes planus	HP:0040281	ORPHA:60030
10526	IPO8	HP:0001763	Pes planus	27/53	OMIM:154700
10526	IPO8	HP:0001763	Pes planus	5/7	OMIM:619472
10526	IPO8	HP:0001763	Pes planus	-	OMIM:182212
10526	IPO8	HP:0001765	Hammertoe	-	OMIM:154700
10526	IPO8	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
10526	IPO8	HP:0000418	Narrow nasal ridge	-	OMIM:130050
10526	IPO8	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
10526	IPO8	HP:0001762	Talipes equinovarus	-	OMIM:130050
10526	IPO8	HP:0001762	Talipes equinovarus	3/16	OMIM:619472
10526	IPO8	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:60030
10526	IPO8	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
10526	IPO8	HP:0001761	Pes cavus	49/146	OMIM:154700
10526	IPO8	HP:0000426	Prominent nasal bridge	1/9	OMIM:619472
10526	IPO8	HP:0000518	Cataract	118/199	OMIM:154700
10526	IPO8	HP:0001840	Metatarsus adductus	-	OMIM:121050
10526	IPO8	HP:0001840	Metatarsus adductus	-	OMIM:182212
10526	IPO8	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
10526	IPO8	HP:0001842	Foot acroosteolysis	-	OMIM:130050
10526	IPO8	HP:0000520	Proptosis	7/12	OMIM:619472
10526	IPO8	HP:0000520	Proptosis	29/37	OMIM:182212
10526	IPO8	HP:0001838	Rocker bottom foot	1/7	OMIM:619472
10526	IPO8	HP:0000506	Telecanthus	-	OMIM:182212
10526	IPO8	HP:0000508	Ptosis	7/19	OMIM:619472
10526	IPO8	HP:0000508	Ptosis	16/37	OMIM:182212
10526	IPO8	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
10526	IPO8	HP:0000501	Glaucoma	29/625	OMIM:154700
10526	IPO8	HP:0000581	Blepharophimosis	-	OMIM:208050
10526	IPO8	HP:0000577	Exotropia	72/626	OMIM:154700
10526	IPO8	HP:0000592	Blue sclerae	1/9	OMIM:619472
10526	IPO8	HP:0000592	Blue sclerae	HP:0040282	ORPHA:60030
10526	IPO8	HP:0000586	Shallow orbits	13/37	OMIM:182212
10526	IPO8	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:60030
10526	IPO8	HP:0000563	Keratoconus	-	OMIM:130050
10526	IPO8	HP:0000563	Keratoconus	3/14	OMIM:208050
10526	IPO8	HP:0011220	Prominent forehead	17/37	OMIM:182212
10526	IPO8	HP:0000565	Esotropia	12/573	OMIM:154700
10526	IPO8	HP:0000541	Retinal detachment	-	OMIM:154700
10526	IPO8	HP:0000541	Retinal detachment	2/12	OMIM:619472
10526	IPO8	HP:0001883	Talipes	13/53	OMIM:154700
10526	IPO8	HP:0000545	Myopia	-	OMIM:121050
10526	IPO8	HP:0000545	Myopia	6/15	OMIM:208050
10526	IPO8	HP:0000545	Myopia	HP:0040283	ORPHA:60030
10526	IPO8	HP:0000545	Myopia	93/251	OMIM:154700
10526	IPO8	HP:0000545	Myopia	9/37	OMIM:182212
10528	NOP56	HP:0001276	Hypertonia	4/14	OMIM:614153
10528	NOP56	HP:0001272	Cerebellar atrophy	14/14	OMIM:614153
10528	NOP56	HP:0001288	Gait disturbance	HP:0040282	ORPHA:276198
10528	NOP56	HP:0001252	Hypotonia	4/14	OMIM:614153
10528	NOP56	HP:0001251	Ataxia	-	OMIM:614153
10528	NOP56	HP:0001251	Ataxia	HP:0040281	ORPHA:276198
10528	NOP56	HP:0001260	Dysarthria	53/58	OMIM:614153
10528	NOP56	HP:0001260	Dysarthria	HP:0040281	ORPHA:276198
10528	NOP56	HP:0001347	Hyperreflexia	14/14	OMIM:614153
10528	NOP56	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:276198
10528	NOP56	HP:0001324	Muscle weakness	5/14	OMIM:614153
10528	NOP56	HP:0000006	Autosomal dominant inheritance	-	OMIM:614153
10528	NOP56	HP:0001310	Dysmetria	HP:0040282	ORPHA:276198
10528	NOP56	HP:0001308	Tongue fasciculations	10/14	OMIM:614153
10528	NOP56	HP:0001308	Tongue fasciculations	HP:0040282	ORPHA:276198
10528	NOP56	HP:0002607	Bowel incontinence	HP:0040284	ORPHA:276198
10528	NOP56	HP:0002015	Dysphagia	6/14	OMIM:614153
10528	NOP56	HP:0002015	Dysphagia	HP:0040284	ORPHA:276198
10528	NOP56	HP:0002080	Intention tremor	HP:0040284	ORPHA:276198
10528	NOP56	HP:0002066	Gait ataxia	-	OMIM:614153
10528	NOP56	HP:0002078	Truncal ataxia	14/14	OMIM:614153
10528	NOP56	HP:0002078	Truncal ataxia	HP:0040281	ORPHA:276198
10528	NOP56	HP:0002076	Migraine	HP:0040284	ORPHA:276198
10528	NOP56	HP:0002070	Limb ataxia	14/14	OMIM:614153
10528	NOP56	HP:0002070	Limb ataxia	HP:0040281	ORPHA:276198
10528	NOP56	HP:0003487	Babinski sign	-	OMIM:614153
10528	NOP56	HP:0003487	Babinski sign	HP:0040282	ORPHA:276198
10528	NOP56	HP:0003445	EMG: neuropathic changes	-	OMIM:614153
10528	NOP56	HP:0007018	Attention deficit hyperactivity disorder	HP:0040284	ORPHA:276198
10528	NOP56	HP:0007001	Loss of Purkinje cells in the cerebellar vermis	HP:0040282	ORPHA:276198
10528	NOP56	HP:0002380	Fasciculations	8/14	OMIM:614153
10528	NOP56	HP:0002380	Fasciculations	HP:0040282	ORPHA:276198
10528	NOP56	HP:0002378	Hand tremor	HP:0040284	ORPHA:276198
10528	NOP56	HP:0003676	Progressive	-	OMIM:614153
10528	NOP56	HP:0002346	Head tremor	HP:0040284	ORPHA:276198
10528	NOP56	HP:0002321	Vertigo	HP:0040284	ORPHA:276198
10528	NOP56	HP:0002311	Incoordination	-	OMIM:614153
10528	NOP56	HP:0000639	Nystagmus	14/14	OMIM:614153
10528	NOP56	HP:0000651	Diplopia	HP:0040284	ORPHA:276198
10528	NOP56	HP:0000622	Blurred vision	HP:0040282	ORPHA:276198
10528	NOP56	HP:0003202	Skeletal muscle atrophy	9/14	OMIM:614153
10528	NOP56	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:276198
10528	NOP56	HP:0045084	Limb myoclonus	HP:0040284	ORPHA:276198
10528	NOP56	HP:0007772	Impaired smooth pursuit	-	OMIM:614153
10528	NOP56	HP:0000365	Hearing impairment	31/42	OMIM:614153
10528	NOP56	HP:0000365	Hearing impairment	HP:0040281	ORPHA:276198
10528	NOP56	HP:0012473	Tongue atrophy	13/14	OMIM:614153
10528	NOP56	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:276198
10528	NOP56	HP:0000514	Slow saccadic eye movements	24/39	OMIM:614153
10528	NOP56	HP:0000514	Slow saccadic eye movements	HP:0040282	ORPHA:276198
10528	NOP56	HP:0000511	Vertical supranuclear gaze palsy	7/39	OMIM:614153
10528	NOP56	HP:0000508	Ptosis	4/44	OMIM:614153
10528	NOP56	HP:0000508	Ptosis	HP:0040283	ORPHA:276198
10531	PITRM1	HP:0001272	Cerebellar atrophy	4/6	OMIM:619405
10531	PITRM1	HP:0001256	Intellectual disability, mild	2/2	OMIM:619405
10531	PITRM1	HP:0001251	Ataxia	3/4	OMIM:619405
10531	PITRM1	HP:0001249	Intellectual disability	3/4	OMIM:619405
10531	PITRM1	HP:0001263	Global developmental delay	8/8	OMIM:619405
10531	PITRM1	HP:0001348	Brisk reflexes	1/4	OMIM:619405
10531	PITRM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619405
10531	PITRM1	HP:0001337	Tremor	1/4	OMIM:619405
10531	PITRM1	HP:0001310	Dysmetria	3/4	OMIM:619405
10531	PITRM1	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/4	OMIM:619405
10531	PITRM1	HP:0002059	Cerebral atrophy	2/6	OMIM:619405
10531	PITRM1	HP:0002151	Increased circulating lactate concentration	1/4	OMIM:619405
10531	PITRM1	HP:0003593	Infantile onset	2/4	OMIM:619405
10531	PITRM1	HP:0003542	Increased circulating pyruvate concentration	1/4	OMIM:619405
10531	PITRM1	HP:0002317	Unsteady gait	1/4	OMIM:619405
10531	PITRM1	HP:0000722	Compulsive behaviors	2/2	OMIM:619405
10531	PITRM1	HP:0000725	Psychotic episodes	4/6	OMIM:619405
10531	PITRM1	HP:0011463	Childhood onset	4/6	OMIM:619405
10531	PITRM1	HP:0003236	Elevated circulating creatine kinase concentration	1/4	OMIM:619405
10531	PITRM1	HP:0030187	Titubation	1/4	OMIM:619405
10533	ATG7	HP:0008619	Bilateral sensorineural hearing impairment	2/12	OMIM:619422
10533	ATG7	HP:0003763	Bruxism	1/12	OMIM:619422
10533	ATG7	HP:0001298	Encephalopathy	3/10	OMIM:619422
10533	ATG7	HP:0001250	Seizure	2/12	OMIM:619422
10533	ATG7	HP:0001251	Ataxia	11/11	OMIM:619422
10533	ATG7	HP:0001266	Choreoathetosis	1/12	OMIM:619422
10533	ATG7	HP:0001260	Dysarthria	3/12	OMIM:619422
10533	ATG7	HP:0003819	Death in childhood	1/12	OMIM:619422
10533	ATG7	HP:0001332	Dystonia	1/12	OMIM:619422
10533	ATG7	HP:0001324	Muscle weakness	5/11	OMIM:619422
10533	ATG7	HP:0001344	Absent speech	2/12	OMIM:619422
10533	ATG7	HP:0000007	Autosomal recessive inheritance	-	OMIM:619422
10533	ATG7	HP:0001337	Tremor	8/11	OMIM:619422
10533	ATG7	HP:0001321	Cerebellar hypoplasia	7/12	OMIM:619422
10533	ATG7	HP:0008936	Axial hypotonia	4/11	OMIM:619422
10533	ATG7	HP:0002015	Dysphagia	1/12	OMIM:619422
10533	ATG7	HP:0004619	Lumbar kyphoscoliosis	1/10	OMIM:619422
10533	ATG7	HP:0002059	Cerebral atrophy	4/12	OMIM:619422
10533	ATG7	HP:0003593	Infantile onset	-	OMIM:619422
10533	ATG7	HP:0100753	Schizophrenia	1/12	OMIM:619422
10533	ATG7	HP:0011968	Feeding difficulties	1/12	OMIM:619422
10533	ATG7	HP:0100660	Dyskinesia	2/11	OMIM:619422
10533	ATG7	HP:0004209	Clinodactyly of the 5th finger	3/12	OMIM:619422
10533	ATG7	HP:0000648	Optic atrophy	7/11	OMIM:619422
10533	ATG7	HP:0034007	Posterior atrophy of corpus callosum	7/12	OMIM:619422
10533	ATG7	HP:0031936	Delayed ability to walk	10/10	OMIM:619422
10533	ATG7	HP:0000767	Pectus excavatum	2/10	OMIM:619422
10533	ATG7	HP:0000750	Delayed speech and language development	4/12	OMIM:619422
10533	ATG7	HP:0000742	Self-mutilation	1/12	OMIM:619422
10533	ATG7	HP:0000729	Autistic behavior	1/12	OMIM:619422
10533	ATG7	HP:0000278	Retrognathia	2/12	OMIM:619422
10533	ATG7	HP:0000276	Long face	3/12	OMIM:619422
10533	ATG7	HP:0000218	High palate	3/12	OMIM:619422
10533	ATG7	HP:0000212	Gingival overgrowth	2/12	OMIM:619422
10533	ATG7	HP:0001510	Growth delay	3/8	OMIM:619422
10533	ATG7	HP:0001611	Hypernasal speech	2/12	OMIM:619422
10533	ATG7	HP:0000319	Smooth philtrum	1/12	OMIM:619422
10533	ATG7	HP:0000486	Strabismus	7/11	OMIM:619422
10533	ATG7	HP:0000488	Retinopathy	2/11	OMIM:619422
10533	ATG7	HP:0001761	Pes cavus	1/12	OMIM:619422
10533	ATG7	HP:0000508	Ptosis	2/11	OMIM:619422
10533	ATG7	HP:0000544	External ophthalmoplegia	1/12	OMIM:619422
10535	RNASEH2A	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0002415	Leukodystrophy	-	OMIM:610333
10535	RNASEH2A	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0001276	Hypertonia	HP:0040281	ORPHA:51
10535	RNASEH2A	HP:0001272	Cerebellar atrophy	-	OMIM:610333
10535	RNASEH2A	HP:0001288	Gait disturbance	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0001250	Seizure	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0001250	Seizure	-	OMIM:610333
10535	RNASEH2A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:51
10535	RNASEH2A	HP:0001257	Spasticity	-	OMIM:610333
10535	RNASEH2A	HP:0001257	Spasticity	HP:0040281	ORPHA:51
10535	RNASEH2A	HP:0002514	Cerebral calcification	-	OMIM:610333
10535	RNASEH2A	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0003819	Death in childhood	-	OMIM:610333
10535	RNASEH2A	HP:0001369	Arthritis	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0000054	Micropenis	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0001332	Dystonia	-	OMIM:610333
10535	RNASEH2A	HP:0001332	Dystonia	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:610333
10535	RNASEH2A	HP:0001337	Tremor	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0002650	Scoliosis	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0001433	Hepatosplenomegaly	-	OMIM:610333
10535	RNASEH2A	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0002093	Respiratory insufficiency	-	OMIM:610333
10535	RNASEH2A	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0002059	Cerebral atrophy	-	OMIM:610333
10535	RNASEH2A	HP:0100578	Lipoatrophy	HP:0040284	ORPHA:51
10535	RNASEH2A	HP:0002139	Arrhinencephaly	HP:0040281	ORPHA:51
10535	RNASEH2A	HP:0002119	Ventriculomegaly	-	OMIM:610333
10535	RNASEH2A	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0002132	Porencephalic cyst	HP:0040281	ORPHA:51
10535	RNASEH2A	HP:0002187	Intellectual disability, profound	HP:0040281	ORPHA:51
10535	RNASEH2A	HP:0011834	Moyamoya phenomenon	HP:0040284	ORPHA:51
10535	RNASEH2A	HP:0003593	Infantile onset	-	OMIM:610333
10535	RNASEH2A	HP:0002240	Hepatomegaly	-	OMIM:610333
10535	RNASEH2A	HP:0003552	Muscle stiffness	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0200149	CSF lymphocytic pleiocytosis	-	OMIM:610333
10535	RNASEH2A	HP:0009709	Increased CSF interferon alpha	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0009710	Chilblains	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0009704	Chronic CSF lymphocytosis	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0011968	Feeding difficulties	-	OMIM:610333
10535	RNASEH2A	HP:0004809	Neonatal alloimmune thrombocytopenia	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0007076	Extrapyramidal muscular rigidity	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0007052	Multifocal cerebral white matter abnormalities	HP:0040281	ORPHA:51
10535	RNASEH2A	HP:0001063	Acrocyanosis	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0002376	Developmental regression	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0002371	Loss of speech	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0002315	Headache	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0100614	Myositis	HP:0040284	ORPHA:51
10535	RNASEH2A	HP:0001087	Developmental glaucoma	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0004963	Calcification of the aorta	HP:0040284	ORPHA:51
10535	RNASEH2A	HP:0004942	Aortic aneurysm	HP:0040284	ORPHA:51
10535	RNASEH2A	HP:0005550	Chronic lymphatic leukemia	HP:0040284	ORPHA:51
10535	RNASEH2A	HP:0000639	Nystagmus	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0001955	Unexplained fevers	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0000625	Eyelid coloboma	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0011344	Severe global developmental delay	-	OMIM:610333
10535	RNASEH2A	HP:0004322	Short stature	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0000737	Irritability	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0030880	Raynaud phenomenon	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0000958	Dry skin	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0000965	Cutis marmorata	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0040140	Degeneration of the striatum	HP:0040284	ORPHA:51
10535	RNASEH2A	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0000238	Hydrocephalus	-	OMIM:610333
10535	RNASEH2A	HP:0000253	Progressive microcephaly	-	OMIM:610333
10535	RNASEH2A	HP:0000252	Microcephaly	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0030038	Enchondroma	HP:0040284	ORPHA:51
10535	RNASEH2A	HP:0001511	Intrauterine growth retardation	-	OMIM:610333
10535	RNASEH2A	HP:0006579	Prolonged neonatal jaundice	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0001609	Hoarse voice	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:610333
10535	RNASEH2A	HP:0000369	Low-set ears	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0000369	Low-set ears	-	OMIM:610333
10535	RNASEH2A	HP:0002960	Autoimmunity	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:51
10535	RNASEH2A	HP:0012490	Panniculitis	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0012444	Brain atrophy	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0000444	Convex nasal ridge	-	OMIM:610333
10535	RNASEH2A	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0001744	Splenomegaly	-	OMIM:610333
10535	RNASEH2A	HP:0000508	Ptosis	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0000501	Glaucoma	HP:0040283	ORPHA:51
10535	RNASEH2A	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040282	ORPHA:51
10535	RNASEH2A	HP:0001873	Thrombocytopenia	-	OMIM:610333
10535	RNASEH2A	HP:0001876	Pancytopenia	-	OMIM:610333
10551	AGR2	HP:0025179	Ground-glass opacification	1/13	OMIM:620233
10551	AGR2	HP:0033542	Bronchial wall thickening	2/13	OMIM:620233
10551	AGR2	HP:0001270	Motor delay	3/13	OMIM:620233
10551	AGR2	HP:0001269	Hemiparesis	1/13	OMIM:620233
10551	AGR2	HP:0001254	Lethargy	1/13	OMIM:620233
10551	AGR2	HP:0001252	Hypotonia	1/13	OMIM:620233
10551	AGR2	HP:0001263	Global developmental delay	1/13	OMIM:620233
10551	AGR2	HP:0001396	Cholestasis	1/13	OMIM:620233
10551	AGR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620233
10551	AGR2	HP:0002783	Recurrent lower respiratory tract infections	13/13	OMIM:620233
10551	AGR2	HP:0002020	Gastroesophageal reflux	1/13	OMIM:620233
10551	AGR2	HP:0002028	Chronic diarrhea	5/13	OMIM:620233
10551	AGR2	HP:0002013	Vomiting	2/13	OMIM:620233
10551	AGR2	HP:0002099	Asthma	1/13	OMIM:620233
10551	AGR2	HP:0002094	Dyspnea	1/13	OMIM:620233
10551	AGR2	HP:0002092	Pulmonary arterial hypertension	1/13	OMIM:620233
10551	AGR2	HP:0002110	Bronchiectasis	4/13	OMIM:620233
10551	AGR2	HP:0003593	Infantile onset	3/13	OMIM:620233
10551	AGR2	HP:0003577	Congenital onset	3/13	OMIM:620233
10551	AGR2	HP:0002240	Hepatomegaly	4/13	OMIM:620233
10551	AGR2	HP:0002202	Pleural effusion	1/13	OMIM:620233
10551	AGR2	HP:0100721	Mediastinal lymphadenopathy	1/13	OMIM:620233
10551	AGR2	HP:0100750	Atelectasis	1/13	OMIM:620233
10551	AGR2	HP:0003623	Neonatal onset	5/13	OMIM:620233
10551	AGR2	HP:0001974	Increased total leukocyte count	2/13	OMIM:620233
10551	AGR2	HP:0012735	Cough	4/13	OMIM:620233
10551	AGR2	HP:0011463	Childhood onset	2/13	OMIM:620233
10551	AGR2	HP:0030718	Right atrial enlargement	1/13	OMIM:620233
10551	AGR2	HP:0034388	Hilar lymph node enlargement	5/13	OMIM:620233
10551	AGR2	HP:0003270	Abdominal distention	1/13	OMIM:620233
10551	AGR2	HP:0030828	Wheezing	2/13	OMIM:620233
10551	AGR2	HP:0030830	Crackles	3/13	OMIM:620233
10551	AGR2	HP:0034315	Chronic cough	5/13	OMIM:620233
10551	AGR2	HP:0012236	Elevated sweat chloride	0/13	OMIM:620233
10551	AGR2	HP:0000219	Thin upper lip vermilion	1/13	OMIM:620233
10551	AGR2	HP:0002875	Exertional dyspnea	1/13	OMIM:620233
10551	AGR2	HP:0001508	Failure to thrive	13/13	OMIM:620233
10551	AGR2	HP:0006530	Abnormal pulmonary interstitial morphology	1/13	OMIM:620233
10551	AGR2	HP:0005180	Tricuspid regurgitation	1/13	OMIM:620233
10551	AGR2	HP:0001634	Mitral valve prolapse	1/13	OMIM:620233
10551	AGR2	HP:0000403	Recurrent otitis media	3/13	OMIM:620233
10551	AGR2	HP:0000582	Upslanted palpebral fissure	1/13	OMIM:620233
10551	AGR2	HP:0011220	Prominent forehead	1/13	OMIM:620233
10555	AGPAT2	HP:0001176	Large hands	-	OMIM:608594
10555	AGPAT2	HP:0025128	Reduced intraabdominal adipose tissue	-	OMIM:608594
10555	AGPAT2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:608594
10555	AGPAT2	HP:0003716	Generalized muscular appearance from birth	-	OMIM:608594
10555	AGPAT2	HP:0001249	Intellectual disability	0/6	OMIM:608594
10555	AGPAT2	HP:0002591	Polyphagia	-	OMIM:608594
10555	AGPAT2	HP:0008665	Clitoral hypertrophy	-	OMIM:608594
10555	AGPAT2	HP:0003809	Reduced intrathoracic adipose tissue	-	OMIM:608594
10555	AGPAT2	HP:0000098	Tall stature	-	OMIM:608594
10555	AGPAT2	HP:0001397	Hepatic steatosis	-	OMIM:608594
10555	AGPAT2	HP:0000065	Labial hypertrophy	-	OMIM:608594
10555	AGPAT2	HP:0001394	Cirrhosis	-	OMIM:608594
10555	AGPAT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:608594
10555	AGPAT2	HP:0000147	Polycystic ovaries	-	OMIM:608594
10555	AGPAT2	HP:0002155	Hypertriglyceridemia	-	OMIM:608594
10555	AGPAT2	HP:0003577	Congenital onset	6/8	OMIM:608594
10555	AGPAT2	HP:0002240	Hepatomegaly	8/8	OMIM:608594
10555	AGPAT2	HP:0001007	Hirsutism	-	OMIM:608594
10555	AGPAT2	HP:0003623	Neonatal onset	1/8	OMIM:608594
10555	AGPAT2	HP:0005616	Accelerated skeletal maturation	-	OMIM:608594
10555	AGPAT2	HP:0011463	Childhood onset	1/8	OMIM:608594
10555	AGPAT2	HP:0009125	Lipodystrophy	-	OMIM:608594
10555	AGPAT2	HP:0000787	Nephrolithiasis	-	OMIM:608594
10555	AGPAT2	HP:0000877	Insulin-resistant diabetes mellitus at puberty	-	OMIM:608594
10555	AGPAT2	HP:0000868	Decreased fertility in females	-	OMIM:608594
10555	AGPAT2	HP:0000842	Hyperinsulinemia	-	OMIM:608594
10555	AGPAT2	HP:0000819	Diabetes mellitus	17/28	OMIM:608594
10555	AGPAT2	HP:0003292	Decreased serum leptin	18/18	OMIM:608594
10555	AGPAT2	HP:0000956	Acanthosis nigricans	7/8	OMIM:608594
10555	AGPAT2	HP:0001544	Prominent umbilicus	-	OMIM:608594
10555	AGPAT2	HP:0001537	Umbilical hernia	-	OMIM:608594
10555	AGPAT2	HP:0002833	Cystic angiomatosis of bone	-	OMIM:608594
10555	AGPAT2	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:608594
10555	AGPAT2	HP:0000325	Triangular face	-	OMIM:608594
10555	AGPAT2	HP:0001638	Cardiomyopathy	HP:0040283	OMIM:608594
10555	AGPAT2	HP:0000303	Mandibular prognathia	-	OMIM:608594
10555	AGPAT2	HP:0001735	Acute pancreatitis	-	OMIM:608594
10555	AGPAT2	HP:0000400	Macrotia	-	OMIM:608594
10555	AGPAT2	HP:0001744	Splenomegaly	-	OMIM:608594
10555	AGPAT2	HP:0001833	Long foot	-	OMIM:608594
10558	SPTLC1	HP:0002483	Bulbar signs	HP:0040282	ORPHA:300605
10558	SPTLC1	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:36386
10558	SPTLC1	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:300605
10558	SPTLC1	HP:0002460	Distal muscle weakness	1/1	OMIM:162400
10558	SPTLC1	HP:0007267	Chronic axonal neuropathy	-	OMIM:162400
10558	SPTLC1	HP:0002425	Anarthria	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0003722	Neck flexor weakness	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0003701	Proximal muscle weakness	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0003700	Generalized amyotrophy	3/3	OMIM:620285
10558	SPTLC1	HP:0001276	Hypertonia	HP:0040282	ORPHA:300605
10558	SPTLC1	HP:0002599	Head titubation	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0001288	Gait disturbance	1/1	OMIM:620285
10558	SPTLC1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:300605
10558	SPTLC1	HP:0001284	Areflexia	-	OMIM:162400
10558	SPTLC1	HP:0001251	Ataxia	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0001265	Hyporeflexia	2/3	OMIM:620285
10558	SPTLC1	HP:0001265	Hyporeflexia	-	OMIM:162400
10558	SPTLC1	HP:0001264	Spastic diplegia	HP:0040282	ORPHA:300605
10558	SPTLC1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0033685	Fiber type grouping	1/1	OMIM:620285
10558	SPTLC1	HP:0031060	Impaired ability to dress oneself	HP:0040281	ORPHA:36386
10558	SPTLC1	HP:0007354	Amyotrophic lateral sclerosis	HP:0040281	ORPHA:300605
10558	SPTLC1	HP:0007340	Lower limb muscle weakness	1/1	OMIM:620285
10558	SPTLC1	HP:0002540	Inability to walk	HP:0040283	ORPHA:36386
10558	SPTLC1	HP:0002540	Inability to walk	HP:0040282	ORPHA:300605
10558	SPTLC1	HP:0002544	Retrocollis	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0002530	Axial dystonia	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0002505	Loss of ambulation	10/14	OMIM:620285
10558	SPTLC1	HP:0033683	Jaw hyperreflexia	2/3	OMIM:620285
10558	SPTLC1	HP:0012048	Oromandibular dystonia	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:300605
10558	SPTLC1	HP:0001347	Hyperreflexia	1/3	OMIM:620285
10558	SPTLC1	HP:0007550	Hypohidrosis or hyperhidrosis	HP:0040282	ORPHA:36386
10558	SPTLC1	HP:0006121	Acral ulceration	-	OMIM:162400
10558	SPTLC1	HP:0001332	Dystonia	HP:0040282	ORPHA:300605
10558	SPTLC1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:36386
10558	SPTLC1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:300605
10558	SPTLC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620285
10558	SPTLC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:162400
10558	SPTLC1	HP:0001308	Tongue fasciculations	1/1	OMIM:162400
10558	SPTLC1	HP:0001308	Tongue fasciculations	3/3	OMIM:620285
10558	SPTLC1	HP:0002650	Scoliosis	1/3	OMIM:620285
10558	SPTLC1	HP:0002650	Scoliosis	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0001300	Parkinsonism	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0008954	Intrinsic hand muscle atrophy	1/1	OMIM:620285
10558	SPTLC1	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:36386
10558	SPTLC1	HP:0002754	Osteomyelitis	-	OMIM:162400
10558	SPTLC1	HP:0002754	Osteomyelitis	HP:0040283	ORPHA:36386
10558	SPTLC1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:36386
10558	SPTLC1	HP:0002015	Dysphagia	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0003307	Hyperlordosis	1/3	OMIM:620285
10558	SPTLC1	HP:0003323	Progressive muscle weakness	11/11	OMIM:620285
10558	SPTLC1	HP:0003324	Generalized muscle weakness	3/3	OMIM:620285
10558	SPTLC1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0002093	Respiratory insufficiency	4/11	OMIM:620285
10558	SPTLC1	HP:0002061	Lower limb spasticity	6/11	OMIM:620285
10558	SPTLC1	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:300605
10558	SPTLC1	HP:0003391	Gowers sign	2/3	OMIM:620285
10558	SPTLC1	HP:0002072	Chorea	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0003376	Steppage gait	2/3	OMIM:620285
10558	SPTLC1	HP:0003376	Steppage gait	HP:0040282	ORPHA:36386
10558	SPTLC1	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	-	OMIM:162400
10558	SPTLC1	HP:0002141	Gait imbalance	HP:0040281	ORPHA:36386
10558	SPTLC1	HP:0003448	Decreased sensory nerve conduction velocity	-	OMIM:162400
10558	SPTLC1	HP:0003431	Decreased motor nerve conduction velocity	1/1	OMIM:162400
10558	SPTLC1	HP:0003429	CNS hypomyelination	HP:0040282	ORPHA:300605
10558	SPTLC1	HP:0003409	Distal sensory impairment of all modalities	-	OMIM:162400
10558	SPTLC1	HP:0002169	Clonus	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:300605
10558	SPTLC1	HP:0002179	Opisthotonus	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040281	ORPHA:36386
10558	SPTLC1	HP:0007021	Pain insensitivity	HP:0040282	ORPHA:36386
10558	SPTLC1	HP:0007002	Motor axonal neuropathy	HP:0040283	ORPHA:36386
10558	SPTLC1	HP:0007078	Decreased amplitude of sensory action potentials	HP:0040281	ORPHA:36386
10558	SPTLC1	HP:0001058	Poor wound healing	HP:0040282	ORPHA:36386
10558	SPTLC1	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:36386
10558	SPTLC1	HP:0003693	Distal amyotrophy	HP:0040281	ORPHA:300605
10558	SPTLC1	HP:0003691	Scapular winging	1/3	OMIM:620285
10558	SPTLC1	HP:0002359	Frequent falls	1/1	OMIM:162400
10558	SPTLC1	HP:0001026	Penetrating foot ulcers	HP:0040282	ORPHA:36386
10558	SPTLC1	HP:0002378	Hand tremor	1/1	OMIM:162400
10558	SPTLC1	HP:0010834	Trophic changes related to pain	HP:0040282	ORPHA:36386
10558	SPTLC1	HP:0010829	Impaired temperature sensation	HP:0040282	ORPHA:36386
10558	SPTLC1	HP:0200042	Skin ulcer	HP:0040282	ORPHA:36386
10558	SPTLC1	HP:0009763	Limb pain	HP:0040282	ORPHA:36386
10558	SPTLC1	HP:0003621	Juvenile onset	7/15	OMIM:620285
10558	SPTLC1	HP:0006858	Impaired distal proprioception	1/1	OMIM:162400
10558	SPTLC1	HP:0034045	Angulated muscle fibers	1/1	OMIM:620285
10558	SPTLC1	HP:0000639	Nystagmus	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0000605	Supranuclear gaze palsy	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0009050	Quadriceps muscle atrophy	1/1	OMIM:620285
10558	SPTLC1	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:36386
10558	SPTLC1	HP:0006986	Upper limb spasticity	HP:0040281	ORPHA:300605
10558	SPTLC1	HP:0004326	Cachexia	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0031960	Arm dystonia	HP:0040282	ORPHA:300605
10558	SPTLC1	HP:0006937	Impaired distal tactile sensation	1/1	OMIM:162400
10558	SPTLC1	HP:0006937	Impaired distal tactile sensation	HP:0040282	ORPHA:36386
10558	SPTLC1	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:300605
10558	SPTLC1	HP:0012735	Cough	HP:0040283	ORPHA:36386
10558	SPTLC1	HP:0000726	Dementia	0/11	OMIM:620285
10558	SPTLC1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0011463	Childhood onset	5/14	OMIM:620285
10558	SPTLC1	HP:0005750	Lower-limb joint contracture	HP:0040282	ORPHA:300605
10558	SPTLC1	HP:0100360	Upper-limb joint contracture	HP:0040282	ORPHA:300605
10558	SPTLC1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:300605
10558	SPTLC1	HP:0003202	Skeletal muscle atrophy	1/1	OMIM:162400
10558	SPTLC1	HP:0033051	Impaired executive functioning	2/3	OMIM:620285
10558	SPTLC1	HP:0100287	EMG: slow motor conduction	HP:0040283	ORPHA:36386
10558	SPTLC1	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:36386
10558	SPTLC1	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:300605
10558	SPTLC1	HP:0002821	Neuropathic arthropathy	HP:0040283	ORPHA:36386
10558	SPTLC1	HP:0000252	Microcephaly	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:300605
10558	SPTLC1	HP:0030051	Tip-toe gait	6/11	OMIM:620285
10558	SPTLC1	HP:0002936	Distal sensory impairment	HP:0040281	ORPHA:36386
10558	SPTLC1	HP:0002936	Distal sensory impairment	-	OMIM:162400
10558	SPTLC1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:36386
10558	SPTLC1	HP:0000407	Sensorineural hearing impairment	-	OMIM:162400
10558	SPTLC1	HP:0012473	Tongue atrophy	3/3	OMIM:620285
10558	SPTLC1	HP:0001761	Pes cavus	2/3	OMIM:620285
10558	SPTLC1	HP:0001761	Pes cavus	-	OMIM:162400
10558	SPTLC1	HP:0025708	Early young adult onset	3/11	OMIM:620285
10558	SPTLC1	HP:0000518	Cataract	1/1	OMIM:162400
10558	SPTLC1	HP:0001886	Foot osteomyelitis	-	OMIM:162400
10558	SPTLC1	HP:0001868	Autoamputation of foot	-	OMIM:162400
10559	SLC35A1	HP:0002465	Poor speech	-	OMIM:603585
10559	SLC35A1	HP:0001298	Encephalopathy	-	OMIM:603585
10559	SLC35A1	HP:0001290	Generalized hypotonia	-	OMIM:603585
10559	SLC35A1	HP:0001250	Seizure	-	OMIM:603585
10559	SLC35A1	HP:0001251	Ataxia	-	OMIM:603585
10559	SLC35A1	HP:0001249	Intellectual disability	-	OMIM:603585
10559	SLC35A1	HP:0001265	Hyporeflexia	-	OMIM:603585
10559	SLC35A1	HP:0001260	Dysarthria	-	OMIM:603585
10559	SLC35A1	HP:0001263	Global developmental delay	-	OMIM:603585
10559	SLC35A1	HP:0000093	Proteinuria	-	OMIM:603585
10559	SLC35A1	HP:0031156	Decreased platelet glycoprotein Ib	-	OMIM:603585
10559	SLC35A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:603585
10559	SLC35A1	HP:0012143	Abnormal megakaryocyte morphology	HP:0040281	ORPHA:238459
10559	SLC35A1	HP:0002718	Recurrent bacterial infections	-	OMIM:603585
10559	SLC35A1	HP:0003355	Aminoaciduria	-	OMIM:603585
10559	SLC35A1	HP:0002098	Respiratory distress	HP:0040281	ORPHA:238459
10559	SLC35A1	HP:0002090	Pneumonia	HP:0040281	ORPHA:238459
10559	SLC35A1	HP:0011883	Abnormal platelet granules	HP:0040281	ORPHA:238459
10559	SLC35A1	HP:0003593	Infantile onset	-	OMIM:603585
10559	SLC35A1	HP:0100658	Cellulitis	HP:0040281	ORPHA:238459
10559	SLC35A1	HP:0002310	Orofacial dyskinesia	-	OMIM:603585
10559	SLC35A1	HP:0000639	Nystagmus	-	OMIM:603585
10559	SLC35A1	HP:0001933	Subcutaneous hemorrhage	HP:0040281	ORPHA:238459
10559	SLC35A1	HP:0001933	Subcutaneous hemorrhage	-	OMIM:603585
10559	SLC35A1	HP:0000601	Hypotelorism	-	OMIM:603585
10559	SLC35A1	HP:0001902	Giant platelets	HP:0040281	ORPHA:238459
10559	SLC35A1	HP:0003010	Prolonged bleeding time	HP:0040281	ORPHA:238459
10559	SLC35A1	HP:0040223	Pulmonary hemorrhage	HP:0040281	ORPHA:238459
10559	SLC35A1	HP:0040223	Pulmonary hemorrhage	-	OMIM:603585
10559	SLC35A1	HP:0040185	Macrothrombocytopenia	-	OMIM:603585
10559	SLC35A1	HP:0030084	Clinodactyly	-	OMIM:603585
10559	SLC35A1	HP:0000252	Microcephaly	-	OMIM:603585
10559	SLC35A1	HP:0001659	Aortic regurgitation	-	OMIM:603585
10559	SLC35A1	HP:0000322	Short philtrum	-	OMIM:603585
10559	SLC35A1	HP:0000490	Deeply set eye	-	OMIM:603585
10559	SLC35A1	HP:0000465	Webbed neck	-	OMIM:603585
10559	SLC35A1	HP:0012418	Hypoxemia	HP:0040281	ORPHA:238459
10559	SLC35A1	HP:0005469	Flat occiput	-	OMIM:603585
10559	SLC35A1	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:238459
10559	SLC35A1	HP:0001873	Thrombocytopenia	-	OMIM:603585
10559	SLC35A1	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:238459
10559	SLC35A1	HP:0001875	Decreased total neutrophil count	HP:0040281	ORPHA:238459
10559	SLC35A1	HP:0001875	Decreased total neutrophil count	-	OMIM:603585
10560	SLC19A2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
10560	SLC19A2	HP:0001297	Stroke	HP:0040283	ORPHA:49827
10560	SLC19A2	HP:0001297	Stroke	HP:0040283	OMIM:249270
10560	SLC19A2	HP:0001254	Lethargy	HP:0040281	ORPHA:49827
10560	SLC19A2	HP:0001250	Seizure	HP:0040283	OMIM:249270
10560	SLC19A2	HP:0001251	Ataxia	HP:0040283	OMIM:249270
10560	SLC19A2	HP:0001263	Global developmental delay	HP:0040283	OMIM:249270
10560	SLC19A2	HP:0000028	Cryptorchidism	HP:0040283	OMIM:249270
10560	SLC19A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:249270
10560	SLC19A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
10560	SLC19A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
10560	SLC19A2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
10560	SLC19A2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
10560	SLC19A2	HP:0003355	Aminoaciduria	-	OMIM:249270
10560	SLC19A2	HP:0002020	Gastroesophageal reflux	HP:0040283	OMIM:249270
10560	SLC19A2	HP:0002014	Diarrhea	HP:0040281	ORPHA:49827
10560	SLC19A2	HP:0002039	Anorexia	HP:0040281	ORPHA:49827
10560	SLC19A2	HP:0003401	Paresthesia	HP:0040281	ORPHA:49827
10560	SLC19A2	HP:0004860	Thiamine-responsive megaloblastic anemia	7/7	OMIM:249270
10560	SLC19A2	HP:0002315	Headache	HP:0040281	ORPHA:49827
10560	SLC19A2	HP:0003621	Juvenile onset	8/19	OMIM:180100
10560	SLC19A2	HP:0003621	Juvenile onset	3/7	OMIM:249270
10560	SLC19A2	HP:0000639	Nystagmus	-	OMIM:249270
10560	SLC19A2	HP:0000648	Optic atrophy	HP:0040282	ORPHA:49827
10560	SLC19A2	HP:0000648	Optic atrophy	-	OMIM:249270
10560	SLC19A2	HP:0001924	Sideroblastic anemia	-	OMIM:249270
10560	SLC19A2	HP:0000662	Nyctalopia	26/28	OMIM:180100
10560	SLC19A2	HP:0004322	Short stature	-	OMIM:249270
10560	SLC19A2	HP:0004322	Short stature	HP:0040283	ORPHA:49827
10560	SLC19A2	HP:0011463	Childhood onset	3/19	OMIM:180100
10560	SLC19A2	HP:0011463	Childhood onset	3/7	OMIM:249270
10560	SLC19A2	HP:0011462	Young adult onset	8/19	OMIM:180100
10560	SLC19A2	HP:0011462	Young adult onset	1/7	OMIM:249270
10560	SLC19A2	HP:0000819	Diabetes mellitus	HP:0040281	ORPHA:49827
10560	SLC19A2	HP:0000819	Diabetes mellitus	7/7	OMIM:249270
10560	SLC19A2	HP:0000980	Pallor	HP:0040281	ORPHA:49827
10560	SLC19A2	HP:0000951	Abnormality of the skin	-	OMIM:249270
10560	SLC19A2	HP:0011675	Arrhythmia	-	OMIM:249270
10560	SLC19A2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
10560	SLC19A2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
10560	SLC19A2	HP:0001609	Hoarse voice	-	OMIM:249270
10560	SLC19A2	HP:0001696	Situs inversus totalis	HP:0040283	OMIM:249270
10560	SLC19A2	HP:0001695	Cardiac arrest	HP:0040283	ORPHA:49827
10560	SLC19A2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:49827
10560	SLC19A2	HP:0001629	Ventricular septal defect	-	OMIM:249270
10560	SLC19A2	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:49827
10560	SLC19A2	HP:0001638	Cardiomyopathy	HP:0040283	OMIM:249270
10560	SLC19A2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:49827
10560	SLC19A2	HP:0001631	Atrial septal defect	-	OMIM:249270
10560	SLC19A2	HP:0006671	Paroxysmal atrial tachycardia	HP:0040283	ORPHA:49827
10560	SLC19A2	HP:0000407	Sensorineural hearing impairment	6/7	OMIM:249270
10560	SLC19A2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:49827
10560	SLC19A2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
10560	SLC19A2	HP:0000575	Scotoma	5/18	OMIM:180100
10560	SLC19A2	HP:0001889	Megaloblastic anemia	HP:0040281	ORPHA:49827
10560	SLC19A2	HP:0000556	Retinal dystrophy	HP:0040283	ORPHA:49827
10560	SLC19A2	HP:0000572	Visual loss	HP:0040283	ORPHA:49827
10560	SLC19A2	HP:0000572	Visual loss	-	OMIM:249270
10560	SLC19A2	HP:0000546	Retinal degeneration	-	OMIM:249270
10560	SLC19A2	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:249270
10560	SLC19A2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
10560	SLC19A2	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:49827
10560	SLC19A2	HP:0001873	Thrombocytopenia	-	OMIM:249270
10560	SLC19A2	HP:0000545	Myopia	-	OMIM:180100
10564	ARFGEF2	HP:0010864	Intellectual disability, severe	-	OMIM:608097
10564	ARFGEF2	HP:0001290	Generalized hypotonia	-	OMIM:608097
10564	ARFGEF2	HP:0001250	Seizure	-	OMIM:608097
10564	ARFGEF2	HP:0001252	Hypotonia	-	OMIM:608097
10564	ARFGEF2	HP:0001249	Intellectual disability	-	OMIM:608097
10564	ARFGEF2	HP:0001263	Global developmental delay	-	OMIM:608097
10564	ARFGEF2	HP:0032388	Periventricular nodular heterotopia	-	OMIM:608097
10564	ARFGEF2	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:98892
10564	ARFGEF2	HP:0002521	Hypsarrhythmia	-	OMIM:608097
10564	ARFGEF2	HP:0003834	Shoulder dislocation	HP:0040283	ORPHA:98892
10564	ARFGEF2	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:98892
10564	ARFGEF2	HP:0000007	Autosomal recessive inheritance	-	OMIM:608097
10564	ARFGEF2	HP:0002650	Scoliosis	HP:0040281	ORPHA:98892
10564	ARFGEF2	HP:0002021	Pyloric stenosis	HP:0040281	ORPHA:98892
10564	ARFGEF2	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:98892
10564	ARFGEF2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:608097
10564	ARFGEF2	HP:0003593	Infantile onset	-	OMIM:608097
10564	ARFGEF2	HP:0002273	Tetraparesis	-	OMIM:608097
10564	ARFGEF2	HP:0100790	Hernia	HP:0040281	ORPHA:98892
10564	ARFGEF2	HP:0007165	Periventricular heterotopia	HP:0040282	ORPHA:98892
10564	ARFGEF2	HP:0007165	Periventricular heterotopia	-	OMIM:608097
10564	ARFGEF2	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:98892
10564	ARFGEF2	HP:0012639	Abnormal nervous system morphology	HP:0040282	ORPHA:98892
10564	ARFGEF2	HP:0000817	Reduced eye contact	-	OMIM:608097
10564	ARFGEF2	HP:0000963	Thin skin	HP:0040282	ORPHA:98892
10564	ARFGEF2	HP:0000253	Progressive microcephaly	-	OMIM:608097
10564	ARFGEF2	HP:0000252	Microcephaly	-	OMIM:608097
10564	ARFGEF2	HP:0001508	Failure to thrive	HP:0040283	OMIM:608097
10564	ARFGEF2	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:98892
10564	ARFGEF2	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:98892
10564	ARFGEF2	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:98892
10564	ARFGEF2	HP:0001654	Abnormal heart valve morphology	HP:0040282	ORPHA:98892
10564	ARFGEF2	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:98892
10565	ARFGEF1	HP:0001263	Global developmental delay	1/1	OMIM:619964
10565	ARFGEF1	HP:0002521	Hypsarrhythmia	1/1	OMIM:619964
10565	ARFGEF1	HP:0001344	Absent speech	1/1	OMIM:619964
10565	ARFGEF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619964
10565	ARFGEF1	HP:0008936	Axial hypotonia	1/1	OMIM:619964
10565	ARFGEF1	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:619964
10565	ARFGEF1	HP:0003593	Infantile onset	1/1	OMIM:619964
10565	ARFGEF1	HP:0010841	Multifocal epileptiform discharges	1/1	OMIM:619964
10565	ARFGEF1	HP:0010819	Atonic seizure	1/1	OMIM:619964
10565	ARFGEF1	HP:0032792	Tonic seizure	1/1	OMIM:619964
10565	ARFGEF1	HP:0032794	Myoclonic seizure	1/1	OMIM:619964
10565	ARFGEF1	HP:0012469	Infantile spasms	1/1	OMIM:619964
10566	AKAP3	HP:0000007	Autosomal recessive inheritance	-	OMIM:620353
10566	AKAP3	HP:0032558	Absent sperm flagella	2/2	OMIM:620353
10566	AKAP3	HP:0032559	Short sperm flagella	2/2	OMIM:620353
10566	AKAP3	HP:0032560	Coiled sperm flagella	2/2	OMIM:620353
10566	AKAP3	HP:0034011	Reduced progressive sperm motility	2/2	OMIM:620353
10566	AKAP3	HP:0011462	Young adult onset	2/2	OMIM:620353
10566	AKAP3	HP:0003251	Male infertility	2/2	OMIM:620353
10568	SLC34A2	HP:0025179	Ground-glass opacification	HP:0040284	ORPHA:60025
10568	SLC34A2	HP:0025178	Subpleural interstitial thickening	HP:0040283	ORPHA:60025
10568	SLC34A2	HP:0008703	Gonadal calcification	HP:0040284	ORPHA:60025
10568	SLC34A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:265100
10568	SLC34A2	HP:0000144	Decreased fertility	HP:0040284	ORPHA:60025
10568	SLC34A2	HP:0002789	Tachypnea	HP:0040283	ORPHA:60025
10568	SLC34A2	HP:0031246	Nonproductive cough	HP:0040282	ORPHA:60025
10568	SLC34A2	HP:0100529	Abnormal blood phosphate concentration	-	ORPHA:60025
10568	SLC34A2	HP:0002094	Dyspnea	HP:0040282	ORPHA:60025
10568	SLC34A2	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:60025
10568	SLC34A2	HP:0002091	Restrictive ventilatory defect	-	OMIM:265100
10568	SLC34A2	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:60025
10568	SLC34A2	HP:0003473	Fatigable weakness	HP:0040283	ORPHA:60025
10568	SLC34A2	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:60025
10568	SLC34A2	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:60025
10568	SLC34A2	HP:0002107	Pneumothorax	HP:0040283	ORPHA:60025
10568	SLC34A2	HP:0002105	Hemoptysis	HP:0040283	ORPHA:60025
10568	SLC34A2	HP:0004724	Calcium nephrolithiasis	HP:0040284	ORPHA:60025
10568	SLC34A2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:60025
10568	SLC34A2	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:60025
10568	SLC34A2	HP:0032094	Increased circulating surfactant protein level	HP:0040282	ORPHA:60025
10568	SLC34A2	HP:0100749	Chest pain	HP:0040282	ORPHA:60025
10568	SLC34A2	HP:0100759	Clubbing of fingers	HP:0040283	ORPHA:60025
10568	SLC34A2	HP:0011947	Respiratory tract infection	HP:0040284	ORPHA:60025
10568	SLC34A2	HP:0003677	Slowly progressive	-	OMIM:265100
10568	SLC34A2	HP:0010766	Ectopic calcification	HP:0040284	ORPHA:60025
10568	SLC34A2	HP:0004963	Calcification of the aorta	HP:0040284	ORPHA:60025
10568	SLC34A2	HP:0003621	Juvenile onset	3/8	OMIM:265100
10568	SLC34A2	HP:0004241	Stippled calcification in carpal bones	HP:0040284	ORPHA:60025
10568	SLC34A2	HP:0001945	Fever	HP:0040284	ORPHA:60025
10568	SLC34A2	HP:0031944	Pleural thickening	HP:0040283	ORPHA:60025
10568	SLC34A2	HP:0004382	Mitral valve calcification	HP:0040284	ORPHA:60025
10568	SLC34A2	HP:0004363	Abnormal circulating calcium concentration	-	ORPHA:60025
10568	SLC34A2	HP:0011463	Childhood onset	1/8	OMIM:265100
10568	SLC34A2	HP:0011462	Young adult onset	4/8	OMIM:265100
10568	SLC34A2	HP:0000790	Hematuria	HP:0040284	ORPHA:60025
10568	SLC34A2	HP:0030874	Oxygen desaturation on exertion	HP:0040282	ORPHA:60025
10568	SLC34A2	HP:0030879	Interlobular septal thickening	HP:0040283	ORPHA:60025
10568	SLC34A2	HP:0000961	Cyanosis	HP:0040283	ORPHA:60025
10568	SLC34A2	HP:0012215	Testicular microlithiasis	HP:0040284	ORPHA:60025
10568	SLC34A2	HP:0002878	Respiratory failure	HP:0040284	ORPHA:60025
10568	SLC34A2	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:60025
10568	SLC34A2	HP:0006514	Intraalveolar nodular calcifications	-	OMIM:265100
10568	SLC34A2	HP:0012398	Peripheral edema	HP:0040283	ORPHA:60025
10568	SLC34A2	HP:0012378	Fatigue	HP:0040282	ORPHA:60025
10568	SLC34A2	HP:0012387	Bronchitis	HP:0040284	ORPHA:60025
10568	SLC34A2	HP:0006520	Progressive pulmonary function impairment	-	OMIM:265100
10568	SLC34A2	HP:0005317	Increased pulmonary vascular resistance	HP:0040282	ORPHA:60025
10568	SLC34A2	HP:0001708	Right ventricular failure	HP:0040283	ORPHA:60025
10568	SLC34A2	HP:0012418	Hypoxemia	HP:0040283	ORPHA:60025
10568	SLC34A2	HP:0001824	Weight loss	HP:0040283	ORPHA:60025
10576	CCT2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
10576	CCT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
10576	CCT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
10576	CCT2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
10576	CCT2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
10576	CCT2	HP:0003621	Juvenile onset	8/19	OMIM:180100
10576	CCT2	HP:0000662	Nyctalopia	26/28	OMIM:180100
10576	CCT2	HP:0011463	Childhood onset	3/19	OMIM:180100
10576	CCT2	HP:0011462	Young adult onset	8/19	OMIM:180100
10576	CCT2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
10576	CCT2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
10576	CCT2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
10576	CCT2	HP:0000575	Scotoma	5/18	OMIM:180100
10576	CCT2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
10576	CCT2	HP:0000545	Myopia	-	OMIM:180100
10577	NPC2	HP:0001250	Seizure	-	OMIM:607625
10577	NPC2	HP:0001252	Hypotonia	-	OMIM:607625
10577	NPC2	HP:0001251	Ataxia	-	OMIM:607625
10577	NPC2	HP:0001249	Intellectual disability	-	OMIM:607625
10577	NPC2	HP:0001260	Dysarthria	-	OMIM:607625
10577	NPC2	HP:0001263	Global developmental delay	-	OMIM:607625
10577	NPC2	HP:0001257	Spasticity	-	OMIM:607625
10577	NPC2	HP:0002524	Cataplexy	-	OMIM:607625
10577	NPC2	HP:0003819	Death in childhood	2/8	OMIM:607625
10577	NPC2	HP:0001332	Dystonia	-	OMIM:607625
10577	NPC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:607625
10577	NPC2	HP:0002643	Neonatal respiratory distress	1/8	OMIM:607625
10577	NPC2	HP:0003349	Low cholesterol esterification rate	8/8	OMIM:607625
10577	NPC2	HP:0002015	Dysphagia	-	OMIM:607625
10577	NPC2	HP:0002093	Respiratory insufficiency	7/8	OMIM:607625
10577	NPC2	HP:0002185	Neurofibrillary tangles	-	OMIM:607625
10577	NPC2	HP:0002240	Hepatomegaly	5/8	OMIM:607625
10577	NPC2	HP:0002206	Pulmonary fibrosis	1/1	OMIM:607625
10577	NPC2	HP:0002371	Loss of speech	-	OMIM:607625
10577	NPC2	HP:0003651	Foam cells	-	OMIM:607625
10577	NPC2	HP:0003623	Neonatal onset	6/8	OMIM:607625
10577	NPC2	HP:0003640	CNS foam cells	-	OMIM:607625
10577	NPC2	HP:0001982	Sea-blue histiocytosis	-	OMIM:607625
10577	NPC2	HP:0004333	Bone-marrow foam cells	-	OMIM:607625
10577	NPC2	HP:0000733	Motor stereotypy	-	OMIM:607625
10577	NPC2	HP:0000726	Dementia	-	OMIM:607625
10577	NPC2	HP:0000709	Psychosis	-	OMIM:607625
10577	NPC2	HP:0011463	Childhood onset	2/8	OMIM:607625
10577	NPC2	HP:0000952	Jaundice	5/8	OMIM:607625
10577	NPC2	HP:0002878	Respiratory failure	-	OMIM:607625
10577	NPC2	HP:0001561	Polyhydramnios	1/8	OMIM:607625
10577	NPC2	HP:0001522	Death in infancy	4/8	OMIM:607625
10577	NPC2	HP:0006579	Prolonged neonatal jaundice	-	OMIM:607625
10577	NPC2	HP:0030223	Perseverative thought	-	OMIM:607625
10577	NPC2	HP:0001791	Fetal ascites	1/8	OMIM:607625
10577	NPC2	HP:0001744	Splenomegaly	5/8	OMIM:607625
10577	NPC2	HP:0000511	Vertical supranuclear gaze palsy	-	OMIM:607625
10584	COLEC10	HP:0001249	Intellectual disability	-	OMIM:248340
10584	COLEC10	HP:0001249	Intellectual disability	HP:0040282	ORPHA:293843
10584	COLEC10	HP:0001263	Global developmental delay	1/7	OMIM:248340
10584	COLEC10	HP:0002558	Supernumerary nipple	HP:0040282	ORPHA:293843
10584	COLEC10	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:293843
10584	COLEC10	HP:0002553	Highly arched eyebrow	4/7	OMIM:248340
10584	COLEC10	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:293843
10584	COLEC10	HP:0000085	Horseshoe kidney	1/7	OMIM:248340
10584	COLEC10	HP:0000054	Micropenis	1/3	OMIM:248340
10584	COLEC10	HP:0000048	Bifid scrotum	-	OMIM:248340
10584	COLEC10	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:293843
10584	COLEC10	HP:0000028	Cryptorchidism	1/3	OMIM:248340
10584	COLEC10	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:293843
10584	COLEC10	HP:0000007	Autosomal recessive inheritance	-	OMIM:248340
10584	COLEC10	HP:0002650	Scoliosis	HP:0040282	ORPHA:293843
10584	COLEC10	HP:0000175	Cleft palate	3/7	OMIM:248340
10584	COLEC10	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:293843
10584	COLEC10	HP:0002006	Tessier cleft	-	OMIM:248340
10584	COLEC10	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:293843
10584	COLEC10	HP:0002265	Large fleshy ears	HP:0040282	ORPHA:293843
10584	COLEC10	HP:0011968	Feeding difficulties	1/7	OMIM:248340
10584	COLEC10	HP:0004322	Short stature	2/7	OMIM:248340
10584	COLEC10	HP:0000808	Penoscrotal hypospadias	-	OMIM:248340
10584	COLEC10	HP:0040016	Prominent coccyx	HP:0040283	ORPHA:293843
10584	COLEC10	HP:0003298	Spina bifida occulta	HP:0040282	ORPHA:293843
10584	COLEC10	HP:0100258	Preaxial polydactyly	1/7	OMIM:248340
10584	COLEC10	HP:0000960	Sacral dimple	3/7	OMIM:248340
10584	COLEC10	HP:0005105	Abnormal nasal morphology	HP:0040283	ORPHA:293843
10584	COLEC10	HP:0002827	Hip dislocation	HP:0040283	ORPHA:293843
10584	COLEC10	HP:0002825	Caudal appendage	HP:0040283	ORPHA:293843
10584	COLEC10	HP:0030084	Clinodactyly	1/7	OMIM:248340
10584	COLEC10	HP:0006394	Limited pronation/supination of forearm	HP:0040281	ORPHA:293843
10584	COLEC10	HP:0001540	Diastasis recti	3/7	OMIM:248340
10584	COLEC10	HP:0001540	Diastasis recti	HP:0040282	ORPHA:293843
10584	COLEC10	HP:0030025	Auricular pit	1/7	OMIM:248340
10584	COLEC10	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:293843
10584	COLEC10	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:293843
10584	COLEC10	HP:0000204	Cleft upper lip	3/7	OMIM:248340
10584	COLEC10	HP:0001510	Growth delay	-	OMIM:248340
10584	COLEC10	HP:0000377	Abnormal pinna morphology	2/7	OMIM:248340
10584	COLEC10	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:293843
10584	COLEC10	HP:0000365	Hearing impairment	-	OMIM:248340
10584	COLEC10	HP:0000365	Hearing impairment	HP:0040281	ORPHA:293843
10584	COLEC10	HP:0000369	Low-set ears	HP:0040283	ORPHA:293843
10584	COLEC10	HP:0000316	Hypertelorism	2/7	OMIM:248340
10584	COLEC10	HP:0000316	Hypertelorism	HP:0040282	ORPHA:293843
10584	COLEC10	HP:0002974	Radioulnar synostosis	2/7	OMIM:248340
10584	COLEC10	HP:0002974	Radioulnar synostosis	HP:0040281	ORPHA:293843
10584	COLEC10	HP:0007957	Corneal opacity	1/7	OMIM:248340
10584	COLEC10	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:293843
10584	COLEC10	HP:0000506	Telecanthus	HP:0040282	ORPHA:293843
10584	COLEC10	HP:0000508	Ptosis	-	OMIM:248340
10584	COLEC10	HP:0000508	Ptosis	HP:0040281	ORPHA:293843
10584	COLEC10	HP:0000581	Blepharophimosis	6/7	OMIM:248340
10584	COLEC10	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:293843
10584	COLEC10	HP:0000593	Abnormal anterior chamber morphology	HP:0040282	ORPHA:293843
10584	COLEC10	HP:0000537	Epicanthus inversus	5/7	OMIM:248340
10584	COLEC10	HP:0000537	Epicanthus inversus	HP:0040281	ORPHA:293843
10585	POMT1	HP:0002465	Poor speech	HP:0040283	ORPHA:370968
10585	POMT1	HP:0003797	Limb-girdle muscle atrophy	HP:0040282	ORPHA:370980
10585	POMT1	HP:0002438	Cerebellar malformation	-	OMIM:236670
10585	POMT1	HP:0002435	Meningocele	HP:0040283	ORPHA:588
10585	POMT1	HP:0001105	Retinal atrophy	-	OMIM:236670
10585	POMT1	HP:0007260	Type II lissencephaly	HP:0040282	ORPHA:370959
10585	POMT1	HP:0007260	Type II lissencephaly	31/31	OMIM:236670
10585	POMT1	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:370959
10585	POMT1	HP:0010864	Intellectual disability, severe	-	OMIM:236670
10585	POMT1	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:370968
10585	POMT1	HP:0010864	Intellectual disability, severe	5/5	OMIM:613155
10585	POMT1	HP:0008551	Microtia	-	OMIM:236670
10585	POMT1	HP:0003733	Thigh hypertrophy	HP:0040282	ORPHA:86812
10585	POMT1	HP:0003707	Calf muscle pseudohypertrophy	HP:0040282	ORPHA:370959
10585	POMT1	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:370959
10585	POMT1	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:86812
10585	POMT1	HP:0003700	Generalized amyotrophy	HP:0040283	ORPHA:86812
10585	POMT1	HP:0003712	Skeletal muscle hypertrophy	HP:0040282	ORPHA:370959
10585	POMT1	HP:0003712	Skeletal muscle hypertrophy	HP:0040283	ORPHA:370968
10585	POMT1	HP:0007291	Posterior fossa cyst	-	OMIM:236670
10585	POMT1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:370980
10585	POMT1	HP:0001276	Hypertonia	HP:0040282	ORPHA:588
10585	POMT1	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:370980
10585	POMT1	HP:0001274	Agenesis of corpus callosum	-	OMIM:236670
10585	POMT1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:899
10585	POMT1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:370959
10585	POMT1	HP:0001270	Motor delay	HP:0040282	ORPHA:370968
10585	POMT1	HP:0001270	Motor delay	HP:0040282	ORPHA:370980
10585	POMT1	HP:0001270	Motor delay	-	OMIM:609308
10585	POMT1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:588
10585	POMT1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:370980
10585	POMT1	HP:0001288	Gait disturbance	-	OMIM:609308
10585	POMT1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:86812
10585	POMT1	HP:0001284	Areflexia	HP:0040281	ORPHA:899
10585	POMT1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:370959
10585	POMT1	HP:0001250	Seizure	HP:0040283	ORPHA:370959
10585	POMT1	HP:0001250	Seizure	HP:0040282	ORPHA:588
10585	POMT1	HP:0001250	Seizure	2/2	OMIM:236670
10585	POMT1	HP:0001250	Seizure	HP:0040283	ORPHA:899
10585	POMT1	HP:0001252	Hypotonia	HP:0040282	ORPHA:588
10585	POMT1	HP:0001252	Hypotonia	-	OMIM:236670
10585	POMT1	HP:0001252	Hypotonia	HP:0040281	ORPHA:899
10585	POMT1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:370968
10585	POMT1	HP:0001249	Intellectual disability	-	ORPHA:370980
10585	POMT1	HP:0001249	Intellectual disability	5/5	OMIM:609308
10585	POMT1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:899
10585	POMT1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:86812
10585	POMT1	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:899
10585	POMT1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:370968
10585	POMT1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:370959
10585	POMT1	HP:0001263	Global developmental delay	1/1	OMIM:236670
10585	POMT1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:899
10585	POMT1	HP:0001263	Global developmental delay	-	OMIM:613155
10585	POMT1	HP:0001262	Excessive daytime somnolence	-	OMIM:236670
10585	POMT1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:899
10585	POMT1	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:588
10585	POMT1	HP:0007361	Abnormal pons morphology	HP:0040283	ORPHA:370968
10585	POMT1	HP:0002540	Inability to walk	5/5	OMIM:613155
10585	POMT1	HP:0002536	Abnormal cortical gyration	HP:0040281	ORPHA:899
10585	POMT1	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:370968
10585	POMT1	HP:0002515	Waddling gait	HP:0040282	ORPHA:86812
10585	POMT1	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:370968
10585	POMT1	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:370980
10585	POMT1	HP:0003803	Type 1 muscle fiber predominance	HP:0040283	ORPHA:86812
10585	POMT1	HP:0001371	Flexion contracture	-	OMIM:609308
10585	POMT1	HP:0001371	Flexion contracture	-	OMIM:613155
10585	POMT1	HP:0000054	Micropenis	HP:0040283	ORPHA:370968
10585	POMT1	HP:0001387	Joint stiffness	2/5	OMIM:609308
10585	POMT1	HP:0000050	Hypoplastic male external genitalia	-	OMIM:236670
10585	POMT1	HP:0001349	Facial diplegia	HP:0040282	ORPHA:370980
10585	POMT1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:370959
10585	POMT1	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:588
10585	POMT1	HP:0000028	Cryptorchidism	1/1	OMIM:236670
10585	POMT1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:370968
10585	POMT1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:899
10585	POMT1	HP:0008872	Feeding difficulties in infancy	2/2	OMIM:236670
10585	POMT1	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:899
10585	POMT1	HP:0001328	Specific learning disability	HP:0040281	ORPHA:899
10585	POMT1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:899
10585	POMT1	HP:0001344	Absent speech	1/1	OMIM:236670
10585	POMT1	HP:0001344	Absent speech	2/5	OMIM:613155
10585	POMT1	HP:0001339	Lissencephaly	HP:0040281	ORPHA:899
10585	POMT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:609308
10585	POMT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613155
10585	POMT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:236670
10585	POMT1	HP:0001305	Dandy-Walker malformation	2/2	OMIM:236670
10585	POMT1	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:899
10585	POMT1	HP:0001302	Pachygyria	-	OMIM:236670
10585	POMT1	HP:0001302	Pachygyria	HP:0040281	ORPHA:899
10585	POMT1	HP:0001302	Pachygyria	HP:0040284	ORPHA:370980
10585	POMT1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:370968
10585	POMT1	HP:0001320	Cerebellar vermis hypoplasia	5/5	OMIM:613155
10585	POMT1	HP:0002650	Scoliosis	HP:0040283	ORPHA:370968
10585	POMT1	HP:0002650	Scoliosis	HP:0040283	ORPHA:86812
10585	POMT1	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:236670
10585	POMT1	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:899
10585	POMT1	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:370968
10585	POMT1	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:370959
10585	POMT1	HP:0001321	Cerebellar hypoplasia	5/5	OMIM:613155
10585	POMT1	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:370959
10585	POMT1	HP:0001319	Neonatal hypotonia	1/1	OMIM:236670
10585	POMT1	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:370980
10585	POMT1	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:86812
10585	POMT1	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:370968
10585	POMT1	HP:0031108	Triceps weakness	HP:0040283	ORPHA:86812
10585	POMT1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:899
10585	POMT1	HP:0000158	Macroglossia	HP:0040282	ORPHA:370959
10585	POMT1	HP:0000158	Macroglossia	2/3	OMIM:613155
10585	POMT1	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:899
10585	POMT1	HP:0000175	Cleft palate	-	OMIM:236670
10585	POMT1	HP:0000175	Cleft palate	HP:0040283	ORPHA:899
10585	POMT1	HP:0008981	Calf muscle hypertrophy	4/5	OMIM:609308
10585	POMT1	HP:0008981	Calf muscle hypertrophy	HP:0040282	ORPHA:86812
10585	POMT1	HP:0008981	Calf muscle hypertrophy	HP:0040282	ORPHA:370968
10585	POMT1	HP:0008981	Calf muscle hypertrophy	4/5	OMIM:613155
10585	POMT1	HP:0008947	Floppy infant	HP:0040281	ORPHA:370968
10585	POMT1	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:370959
10585	POMT1	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	HP:0040281	ORPHA:899
10585	POMT1	HP:0000110	Renal dysplasia	-	OMIM:236670
10585	POMT1	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:370980
10585	POMT1	HP:0002023	Anal atresia	-	OMIM:236670
10585	POMT1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:86812
10585	POMT1	HP:0003327	Axial muscle weakness	HP:0040283	ORPHA:370968
10585	POMT1	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:370968
10585	POMT1	HP:0003325	Limb-girdle muscle weakness	5/5	OMIM:609308
10585	POMT1	HP:0003325	Limb-girdle muscle weakness	HP:0040283	ORPHA:86812
10585	POMT1	HP:0003326	Myalgia	HP:0040282	ORPHA:370980
10585	POMT1	HP:0004637	Decreased cervical spine mobility	HP:0040283	ORPHA:370968
10585	POMT1	HP:0003306	Spinal rigidity	-	OMIM:609308
10585	POMT1	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:86812
10585	POMT1	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:370980
10585	POMT1	HP:0002085	Occipital encephalocele	HP:0040283	ORPHA:370959
10585	POMT1	HP:0002085	Occipital encephalocele	-	OMIM:236670
10585	POMT1	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:588
10585	POMT1	HP:0002098	Respiratory distress	HP:0040283	ORPHA:86812
10585	POMT1	HP:0002094	Dyspnea	HP:0040283	ORPHA:86812
10585	POMT1	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:370968
10585	POMT1	HP:0003394	Muscle spasm	HP:0040282	ORPHA:370980
10585	POMT1	HP:0003391	Gowers sign	HP:0040282	ORPHA:86812
10585	POMT1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:236670
10585	POMT1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:370968
10585	POMT1	HP:0002079	Hypoplasia of the corpus callosum	1/5	OMIM:613155
10585	POMT1	HP:0003388	Easy fatigability	-	OMIM:609308
10585	POMT1	HP:0003388	Easy fatigability	HP:0040283	ORPHA:86812
10585	POMT1	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:370980
10585	POMT1	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:370968
10585	POMT1	HP:0002119	Ventriculomegaly	-	OMIM:236670
10585	POMT1	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:899
10585	POMT1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:370968
10585	POMT1	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:370980
10585	POMT1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:370959
10585	POMT1	HP:0003457	EMG abnormality	HP:0040281	ORPHA:588
10585	POMT1	HP:0002126	Polymicrogyria	-	OMIM:236670
10585	POMT1	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:899
10585	POMT1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:370959
10585	POMT1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:370980
10585	POMT1	HP:0002187	Intellectual disability, profound	-	OMIM:236670
10585	POMT1	HP:0002198	Dilated fourth ventricle	HP:0040282	ORPHA:370959
10585	POMT1	HP:0002169	Clonus	HP:0040283	ORPHA:370959
10585	POMT1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:588
10585	POMT1	HP:0010508	Metatarsus valgus	HP:0040281	ORPHA:899
10585	POMT1	HP:0003593	Infantile onset	-	OMIM:613155
10585	POMT1	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:899
10585	POMT1	HP:0003577	Congenital onset	2/2	OMIM:236670
10585	POMT1	HP:0003551	Difficulty climbing stairs	5/5	OMIM:609308
10585	POMT1	HP:0003551	Difficulty climbing stairs	HP:0040281	ORPHA:86812
10585	POMT1	HP:0003549	Abnormality of connective tissue	HP:0040283	ORPHA:370968
10585	POMT1	HP:0003560	Muscular dystrophy	-	OMIM:236670
10585	POMT1	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:899
10585	POMT1	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:370980
10585	POMT1	HP:0003560	Muscular dystrophy	-	OMIM:609308
10585	POMT1	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:370959
10585	POMT1	HP:0003560	Muscular dystrophy	HP:0040282	ORPHA:86812
10585	POMT1	HP:0003560	Muscular dystrophy	20/20	OMIM:613155
10585	POMT1	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:86812
10585	POMT1	HP:0002282	Gray matter heterotopia	HP:0040282	ORPHA:370959
10585	POMT1	HP:0002282	Gray matter heterotopia	HP:0040284	ORPHA:370980
10585	POMT1	HP:0002280	Enlarged cisterna magna	-	OMIM:613155
10585	POMT1	HP:0007033	Cerebellar dysplasia	-	OMIM:613155
10585	POMT1	HP:0007033	Cerebellar dysplasia	-	OMIM:236670
10585	POMT1	HP:0007015	Poor gross motor coordination	HP:0040282	ORPHA:370968
10585	POMT1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:370968
10585	POMT1	HP:0032046	Focal cortical dysplasia	1/2	OMIM:613155
10585	POMT1	HP:0010628	Facial palsy	HP:0040283	ORPHA:370968
10585	POMT1	HP:0010628	Facial palsy	-	OMIM:613155
10585	POMT1	HP:0002365	Hypoplasia of the brainstem	1/1	OMIM:236670
10585	POMT1	HP:0002365	Hypoplasia of the brainstem	HP:0040282	ORPHA:370959
10585	POMT1	HP:0002365	Hypoplasia of the brainstem	2/2	OMIM:613155
10585	POMT1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:370959
10585	POMT1	HP:0002359	Frequent falls	HP:0040282	ORPHA:370980
10585	POMT1	HP:0003687	Centrally nucleated skeletal muscle fibers	HP:0040282	ORPHA:86812
10585	POMT1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:588
10585	POMT1	HP:0002350	Cerebellar cyst	HP:0040283	ORPHA:370959
10585	POMT1	HP:0002350	Cerebellar cyst	HP:0040283	ORPHA:370980
10585	POMT1	HP:0003677	Slowly progressive	-	OMIM:609308
10585	POMT1	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040281	ORPHA:899
10585	POMT1	HP:0007204	Diffuse white matter abnormalities	HP:0040282	ORPHA:370959
10585	POMT1	HP:0010794	Impaired visuospatial constructive cognition	HP:0040283	ORPHA:86812
10585	POMT1	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:370980
10585	POMT1	HP:0008443	Neuropathic spinal arthropathy	HP:0040283	ORPHA:370968
10585	POMT1	HP:0006829	Severe muscular hypotonia	-	OMIM:236670
10585	POMT1	HP:0031882	Agyria	2/2	OMIM:236670
10585	POMT1	HP:0006899	Fusion of the cerebellar hemispheres	HP:0040283	ORPHA:370959
10585	POMT1	HP:0006888	Meningoencephalocele	1/1	OMIM:236670
10585	POMT1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:588
10585	POMT1	HP:0000648	Optic atrophy	1/2	OMIM:236670
10585	POMT1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:899
10585	POMT1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:370959
10585	POMT1	HP:0000618	Blindness	-	OMIM:236670
10585	POMT1	HP:0000618	Blindness	HP:0040284	ORPHA:370959
10585	POMT1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:899
10585	POMT1	HP:0000609	Optic nerve hypoplasia	-	OMIM:236670
10585	POMT1	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:370959
10585	POMT1	HP:0012695	Decreased thalamic volume	HP:0040283	ORPHA:370959
10585	POMT1	HP:0000659	Peters anomaly	-	OMIM:236670
10585	POMT1	HP:0006955	Olivopontocerebellar hypoplasia	HP:0040283	ORPHA:370959
10585	POMT1	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:588
10585	POMT1	HP:0031936	Delayed ability to walk	5/5	OMIM:609308
10585	POMT1	HP:0012735	Cough	HP:0040283	ORPHA:86812
10585	POMT1	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:588
10585	POMT1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:86812
10585	POMT1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:86812
10585	POMT1	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:370968
10585	POMT1	HP:0012793	Kinked brainstem	1/2	OMIM:236670
10585	POMT1	HP:0011463	Childhood onset	5/5	OMIM:609308
10585	POMT1	HP:0003198	Myopathy	HP:0040281	ORPHA:588
10585	POMT1	HP:0003198	Myopathy	HP:0040283	ORPHA:86812
10585	POMT1	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040281	ORPHA:899
10585	POMT1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:588
10585	POMT1	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:236670
10585	POMT1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:370968
10585	POMT1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:370959
10585	POMT1	HP:0003236	Elevated circulating creatine kinase concentration	5/5	OMIM:609308
10585	POMT1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:86812
10585	POMT1	HP:0003236	Elevated circulating creatine kinase concentration	5/5	OMIM:613155
10585	POMT1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:899
10585	POMT1	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040281	ORPHA:899
10585	POMT1	HP:0040173	Abnormality of the tongue muscle	HP:0040283	ORPHA:370968
10585	POMT1	HP:0000298	Mask-like facies	1/1	OMIM:236670
10585	POMT1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:899
10585	POMT1	HP:0007731	Chorioretinal dysplasia	HP:0040281	ORPHA:899
10585	POMT1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:370968
10585	POMT1	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:370968
10585	POMT1	HP:0002803	Congenital contracture	-	OMIM:236670
10585	POMT1	HP:0030099	Reduced muscle fiber alpha dystroglycan	HP:0040281	ORPHA:370968
10585	POMT1	HP:0030099	Reduced muscle fiber alpha dystroglycan	HP:0040281	ORPHA:370959
10585	POMT1	HP:0030099	Reduced muscle fiber alpha dystroglycan	HP:0040282	ORPHA:370980
10585	POMT1	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:588
10585	POMT1	HP:0000238	Hydrocephalus	1/2	OMIM:236670
10585	POMT1	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:899
10585	POMT1	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:370959
10585	POMT1	HP:0000238	Hydrocephalus	3/5	OMIM:613155
10585	POMT1	HP:0000252	Microcephaly	HP:0040282	ORPHA:370968
10585	POMT1	HP:0000252	Microcephaly	HP:0040283	ORPHA:370980
10585	POMT1	HP:0000252	Microcephaly	HP:0040282	ORPHA:370959
10585	POMT1	HP:0000252	Microcephaly	-	OMIM:609308
10585	POMT1	HP:0000252	Microcephaly	1/2	OMIM:236670
10585	POMT1	HP:0000252	Microcephaly	HP:0040283	ORPHA:899
10585	POMT1	HP:0000252	Microcephaly	HP:0040282	ORPHA:86812
10585	POMT1	HP:0000252	Microcephaly	5/5	OMIM:613155
10585	POMT1	HP:0002878	Respiratory failure	HP:0040283	ORPHA:370968
10585	POMT1	HP:0000204	Cleft upper lip	-	OMIM:236670
10585	POMT1	HP:0030046	Hypoglycosylation of alpha-dystroglycan	HP:0040281	ORPHA:370968
10585	POMT1	HP:0030046	Hypoglycosylation of alpha-dystroglycan	HP:0040281	ORPHA:370959
10585	POMT1	HP:0030046	Hypoglycosylation of alpha-dystroglycan	5/5	OMIM:609308
10585	POMT1	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:370980
10585	POMT1	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:588
10585	POMT1	HP:0002938	Lumbar hyperlordosis	-	OMIM:609308
10585	POMT1	HP:0002938	Lumbar hyperlordosis	HP:0040282	ORPHA:370959
10585	POMT1	HP:0002938	Lumbar hyperlordosis	HP:0040282	ORPHA:86812
10585	POMT1	HP:0030197	Fatigable weakness of skeletal muscles	HP:0040282	ORPHA:370968
10585	POMT1	HP:0005162	Abnormal left ventricular function	-	OMIM:613155
10585	POMT1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:899
10585	POMT1	HP:0000369	Low-set ears	1/2	OMIM:236670
10585	POMT1	HP:0000369	Low-set ears	HP:0040283	ORPHA:899
10585	POMT1	HP:0000340	Sloping forehead	1/2	OMIM:236670
10585	POMT1	HP:0000347	Micrognathia	1/2	OMIM:236670
10585	POMT1	HP:0001638	Cardiomyopathy	HP:0040283	OMIM:609308
10585	POMT1	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:370959
10585	POMT1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:86812
10585	POMT1	HP:0001638	Cardiomyopathy	HP:0040283	OMIM:613155
10585	POMT1	HP:0007957	Corneal opacity	1/1	OMIM:236670
10585	POMT1	HP:0007957	Corneal opacity	HP:0040282	ORPHA:899
10585	POMT1	HP:0007973	Retinal dysplasia	2/2	OMIM:236670
10585	POMT1	HP:0007973	Retinal dysplasia	HP:0040281	ORPHA:899
10585	POMT1	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:86812
10585	POMT1	HP:0000486	Strabismus	HP:0040281	ORPHA:588
10585	POMT1	HP:0000486	Strabismus	HP:0040283	ORPHA:370968
10585	POMT1	HP:0000486	Strabismus	HP:0040283	ORPHA:370959
10585	POMT1	HP:0000485	Megalocornea	HP:0040283	ORPHA:370959
10585	POMT1	HP:0000485	Megalocornea	-	OMIM:236670
10585	POMT1	HP:0000482	Microcornea	HP:0040283	ORPHA:899
10585	POMT1	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:370968
10585	POMT1	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:370959
10585	POMT1	HP:0001771	Achilles tendon contracture	HP:0040282	ORPHA:370980
10585	POMT1	HP:0012400	Abnormal circulating aldolase concentration	HP:0040281	ORPHA:899
10585	POMT1	HP:0000411	Protruding ear	HP:0040283	ORPHA:899
10585	POMT1	HP:0000413	Atresia of the external auditory canal	-	OMIM:236670
10585	POMT1	HP:0000518	Cataract	HP:0040282	ORPHA:588
10585	POMT1	HP:0000518	Cataract	-	OMIM:236670
10585	POMT1	HP:0000518	Cataract	HP:0040283	ORPHA:899
10585	POMT1	HP:0000518	Cataract	HP:0040283	ORPHA:370959
10585	POMT1	HP:0000519	Developmental cataract	HP:0040283	OMIM:613155
10585	POMT1	HP:0000528	Anophthalmia	HP:0040282	ORPHA:899
10585	POMT1	HP:0000525	Abnormality iris morphology	HP:0040283	ORPHA:370959
10585	POMT1	HP:0000505	Visual impairment	HP:0040281	ORPHA:588
10585	POMT1	HP:0000501	Glaucoma	HP:0040281	ORPHA:588
10585	POMT1	HP:0000501	Glaucoma	-	OMIM:236670
10585	POMT1	HP:0000501	Glaucoma	HP:0040282	ORPHA:899
10585	POMT1	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:370968
10585	POMT1	HP:0000587	Abnormal optic nerve morphology	HP:0040281	ORPHA:899
10585	POMT1	HP:0000589	Coloboma	HP:0040283	ORPHA:370959
10585	POMT1	HP:0000589	Coloboma	-	OMIM:236670
10585	POMT1	HP:0012548	Fatty replacement of skeletal muscle	HP:0040282	ORPHA:370980
10585	POMT1	HP:0000557	Buphthalmos	-	OMIM:236670
10585	POMT1	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:899
10585	POMT1	HP:0000556	Retinal dystrophy	0/5	OMIM:613155
10585	POMT1	HP:0000568	Microphthalmia	1/1	OMIM:236670
10585	POMT1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:899
10585	POMT1	HP:0000568	Microphthalmia	HP:0040284	ORPHA:370959
10585	POMT1	HP:0000568	Microphthalmia	0/5	OMIM:613155
10585	POMT1	HP:0000541	Retinal detachment	-	OMIM:236670
10585	POMT1	HP:0000541	Retinal detachment	HP:0040281	ORPHA:899
10585	POMT1	HP:0000541	Retinal detachment	HP:0040284	ORPHA:370959
10585	POMT1	HP:0000545	Myopia	HP:0040281	ORPHA:588
10585	POMT1	HP:0000545	Myopia	-	OMIM:236670
10585	POMT1	HP:0000545	Myopia	HP:0040283	ORPHA:370968
10585	POMT1	HP:0000545	Myopia	HP:0040283	ORPHA:370959
10585	POMT1	HP:0000545	Myopia	3/5	OMIM:613155
10586	MAB21L2	HP:0001126	Cryptophthalmos	1/5	OMIM:615877
10586	MAB21L2	HP:0009918	Ectopia pupillae	-	OMIM:615877
10586	MAB21L2	HP:0000047	Hypospadias	1/5	OMIM:615877
10586	MAB21L2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615877
10586	MAB21L2	HP:0000006	Autosomal dominant inheritance	-	OMIM:615877
10586	MAB21L2	HP:0008905	Rhizomelia	2/6	OMIM:615877
10586	MAB21L2	HP:0005001	Recurrent patellar dislocation	1/6	OMIM:615877
10586	MAB21L2	HP:0004691	2-3 toe syndactyly	1/6	OMIM:615877
10586	MAB21L2	HP:0011939	3-4 finger cutaneous syndactyly	1/6	OMIM:615877
10586	MAB21L2	HP:0003577	Congenital onset	6/6	OMIM:615877
10586	MAB21L2	HP:0002342	Intellectual disability, moderate	2/6	OMIM:615877
10586	MAB21L2	HP:0000639	Nystagmus	-	OMIM:615877
10586	MAB21L2	HP:0000647	Sclerocornea	1/6	OMIM:615877
10586	MAB21L2	HP:0000629	Periorbital fullness	-	OMIM:615877
10586	MAB21L2	HP:0000826	Precocious puberty	1/6	OMIM:615877
10586	MAB21L2	HP:0000286	Epicanthus	1/6	OMIM:615877
10586	MAB21L2	HP:0000256	Macrocephaly	2/6	OMIM:615877
10586	MAB21L2	HP:0000343	Long philtrum	1/6	OMIM:615877
10586	MAB21L2	HP:0000486	Strabismus	2/6	OMIM:615877
10586	MAB21L2	HP:0000482	Microcornea	2/6	OMIM:615877
10586	MAB21L2	HP:0001763	Pes planus	1/6	OMIM:615877
10586	MAB21L2	HP:0000518	Cataract	-	OMIM:615877
10586	MAB21L2	HP:0000528	Anophthalmia	2/6	OMIM:615877
10586	MAB21L2	HP:0000527	Long eyelashes	-	OMIM:615877
10586	MAB21L2	HP:0000589	Coloboma	4/6	OMIM:615877
10586	MAB21L2	HP:0011220	Prominent forehead	-	OMIM:615877
10586	MAB21L2	HP:0000568	Microphthalmia	2/6	OMIM:615877
10587	TXNRD2	HP:0002445	Tetraplegia	HP:0040284	ORPHA:361
10587	TXNRD2	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
10587	TXNRD2	HP:0001249	Intellectual disability	HP:0040284	ORPHA:361
10587	TXNRD2	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:361
10587	TXNRD2	HP:0007440	Generalized hyperpigmentation	HP:0040281	ORPHA:361
10587	TXNRD2	HP:0031074	Abnormal response to ACTH stimulation test	-	OMIM:617825
10587	TXNRD2	HP:0031076	Impaired cortisol response to insulin stimulation test	HP:0040281	ORPHA:361
10587	TXNRD2	HP:0000098	Tall stature	HP:0040283	ORPHA:361
10587	TXNRD2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:361
10587	TXNRD2	HP:0000027	Azoospermia	HP:0040284	ORPHA:361
10587	TXNRD2	HP:0001325	Hypoglycemic coma	HP:0040284	ORPHA:361
10587	TXNRD2	HP:0000010	Recurrent urinary tract infections	HP:0040284	ORPHA:361
10587	TXNRD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617825
10587	TXNRD2	HP:0002615	Hypotension	HP:0040281	ORPHA:361
10587	TXNRD2	HP:0025451	Testicular adrenal rest tumor	HP:0040283	ORPHA:361
10587	TXNRD2	HP:0000127	Renal salt wasting	HP:0040282	ORPHA:361
10587	TXNRD2	HP:0031214	Decreased circulating dehydroepiandrosterone concentration	HP:0040281	ORPHA:361
10587	TXNRD2	HP:0002719	Recurrent infections	HP:0040282	ORPHA:361
10587	TXNRD2	HP:0002019	Constipation	HP:0040282	ORPHA:361
10587	TXNRD2	HP:0002014	Diarrhea	HP:0040282	ORPHA:361
10587	TXNRD2	HP:0002013	Vomiting	HP:0040282	ORPHA:361
10587	TXNRD2	HP:0002039	Anorexia	HP:0040282	ORPHA:361
10587	TXNRD2	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
10587	TXNRD2	HP:0008163	Decreased circulating cortisol level	HP:0040280	ORPHA:361
10587	TXNRD2	HP:0008163	Decreased circulating cortisol level	7/7	OMIM:617825
10587	TXNRD2	HP:0002153	Hyperkalemia	HP:0040282	ORPHA:361
10587	TXNRD2	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
10587	TXNRD2	HP:0002173	Hypoglycemic seizures	HP:0040282	ORPHA:361
10587	TXNRD2	HP:0100618	Leydig cell neoplasia	HP:0040284	ORPHA:361
10587	TXNRD2	HP:0012605	Hypernatriuria	HP:0040282	ORPHA:361
10587	TXNRD2	HP:0004319	Decreased circulating aldosterone concentration	HP:0040283	ORPHA:361
10587	TXNRD2	HP:0012734	Ketotic hypoglycemia	HP:0040281	ORPHA:361
10587	TXNRD2	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
10587	TXNRD2	HP:0003198	Myopathy	HP:0040283	ORPHA:154
10587	TXNRD2	HP:0000851	Congenital hypothyroidism	HP:0040284	ORPHA:361
10587	TXNRD2	HP:0000846	Adrenal insufficiency	HP:0040280	ORPHA:361
10587	TXNRD2	HP:0000826	Precocious puberty	HP:0040283	ORPHA:361
10587	TXNRD2	HP:0000953	Hyperpigmentation of the skin	5/7	OMIM:617825
10587	TXNRD2	HP:0000969	Edema	HP:0040282	ORPHA:154
10587	TXNRD2	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
10587	TXNRD2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
10587	TXNRD2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:361
10587	TXNRD2	HP:0012378	Fatigue	HP:0040282	ORPHA:154
10587	TXNRD2	HP:0011043	Abnormal circulating adrenocorticotropin concentration	HP:0040281	ORPHA:361
10587	TXNRD2	HP:0002902	Hyponatremia	HP:0040282	ORPHA:361
10587	TXNRD2	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
10587	TXNRD2	HP:0002960	Autoimmunity	-	ORPHA:361
10587	TXNRD2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:361
10587	TXNRD2	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
10587	TXNRD2	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
10587	TXNRD2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
10587	TXNRD2	HP:0012432	Chronic fatigue	HP:0040282	ORPHA:361
10587	TXNRD2	HP:0001824	Weight loss	HP:0040282	ORPHA:361
10588	MTHFS	HP:0001182	Tapered finger	1/2	OMIM:618367
10588	MTHFS	HP:0001196	Short umbilical cord	1/2	OMIM:618367
10588	MTHFS	HP:0001276	Hypertonia	1/2	OMIM:618367
10588	MTHFS	HP:0001272	Cerebellar atrophy	1/2	OMIM:618367
10588	MTHFS	HP:0001250	Seizure	2/2	OMIM:618367
10588	MTHFS	HP:0001263	Global developmental delay	2/2	OMIM:618367
10588	MTHFS	HP:0001257	Spasticity	2/2	OMIM:618367
10588	MTHFS	HP:0000007	Autosomal recessive inheritance	-	OMIM:618367
10588	MTHFS	HP:0002015	Dysphagia	1/2	OMIM:618367
10588	MTHFS	HP:0002079	Hypoplasia of the corpus callosum	1/2	OMIM:618367
10588	MTHFS	HP:0003429	CNS hypomyelination	-	OMIM:618367
10588	MTHFS	HP:0002188	Delayed CNS myelination	2/2	OMIM:618367
10588	MTHFS	HP:0002267	Exaggerated startle response	2/2	OMIM:618367
10588	MTHFS	HP:0003593	Infantile onset	1/2	OMIM:618367
10588	MTHFS	HP:0100704	Cerebral visual impairment	1/2	OMIM:618367
10588	MTHFS	HP:0011968	Feeding difficulties	2/2	OMIM:618367
10588	MTHFS	HP:0010845	EEG with generalized slow activity	1/2	OMIM:618367
10588	MTHFS	HP:0010821	Focal emotional seizure with laughing	1/2	OMIM:618367
10588	MTHFS	HP:0010819	Atonic seizure	1/2	OMIM:618367
10588	MTHFS	HP:0002307	Drooling	1/2	OMIM:618367
10588	MTHFS	HP:0006808	Cerebral hypomyelination	2/2	OMIM:618367
10588	MTHFS	HP:0001945	Fever	1/2	OMIM:618367
10588	MTHFS	HP:0004322	Short stature	2/2	OMIM:618367
10588	MTHFS	HP:0006956	Lateral ventricle dilatation	1/2	OMIM:618367
10588	MTHFS	HP:0000737	Irritability	1/2	OMIM:618367
10588	MTHFS	HP:0000750	Delayed speech and language development	2/2	OMIM:618367
10588	MTHFS	HP:0005792	Short humerus	1/2	OMIM:618367
10588	MTHFS	HP:0003097	Short femur	1/2	OMIM:618367
10588	MTHFS	HP:0000293	Full cheeks	1/2	OMIM:618367
10588	MTHFS	HP:0000252	Microcephaly	2/2	OMIM:618367
10588	MTHFS	HP:0032792	Tonic seizure	1/2	OMIM:618367
10588	MTHFS	HP:0012498	Nuchal cord	1/2	OMIM:618367
10588	MTHFS	HP:0011225	Epiblepharon	1/2	OMIM:618367
10588	MTHFS	HP:0000574	Thick eyebrow	1/2	OMIM:618367
10594	PRPF8	HP:0001133	Constriction of peripheral visual field	-	OMIM:600059
10594	PRPF8	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
10594	PRPF8	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
10594	PRPF8	HP:0003829	Typified by incomplete penetrance	-	OMIM:600059
10594	PRPF8	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
10594	PRPF8	HP:0000006	Autosomal dominant inheritance	-	OMIM:600059
10594	PRPF8	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
10594	PRPF8	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
10594	PRPF8	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
10594	PRPF8	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
10594	PRPF8	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
10594	PRPF8	HP:0003621	Juvenile onset	8/19	OMIM:180100
10594	PRPF8	HP:0003621	Juvenile onset	-	OMIM:600059
10594	PRPF8	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
10594	PRPF8	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
10594	PRPF8	HP:0000618	Blindness	HP:0040281	ORPHA:791
10594	PRPF8	HP:0000613	Photophobia	HP:0040281	ORPHA:791
10594	PRPF8	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
10594	PRPF8	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
10594	PRPF8	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
10594	PRPF8	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
10594	PRPF8	HP:0000662	Nyctalopia	9/11	OMIM:600059
10594	PRPF8	HP:0000662	Nyctalopia	26/28	OMIM:180100
10594	PRPF8	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
10594	PRPF8	HP:0030629	Perifoveal ring of hyperautofluorescence	2/7	OMIM:600059
10594	PRPF8	HP:0030672	Asteroid hyalosis	1/11	OMIM:600059
10594	PRPF8	HP:0011463	Childhood onset	3/19	OMIM:180100
10594	PRPF8	HP:0011463	Childhood onset	-	OMIM:600059
10594	PRPF8	HP:0011462	Young adult onset	-	OMIM:600059
10594	PRPF8	HP:0011462	Young adult onset	8/19	OMIM:180100
10594	PRPF8	HP:0030786	Photopsia	HP:0040283	ORPHA:791
10594	PRPF8	HP:0011505	Cystoid macular edema	4/7	OMIM:600059
10594	PRPF8	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
10594	PRPF8	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
10594	PRPF8	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
10594	PRPF8	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
10594	PRPF8	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
10594	PRPF8	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:600059
10594	PRPF8	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
10594	PRPF8	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
10594	PRPF8	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
10594	PRPF8	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:600059
10594	PRPF8	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
10594	PRPF8	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
10594	PRPF8	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
10594	PRPF8	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
10594	PRPF8	HP:0012426	Optic disc drusen	1/7	OMIM:600059
10594	PRPF8	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
10594	PRPF8	HP:0000510	Rod-cone dystrophy	-	OMIM:600059
10594	PRPF8	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
10594	PRPF8	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
10594	PRPF8	HP:0000523	Subcapsular cataract	4/11	OMIM:600059
10594	PRPF8	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
10594	PRPF8	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
10594	PRPF8	HP:0000575	Scotoma	5/18	OMIM:180100
10594	PRPF8	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
10594	PRPF8	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
10594	PRPF8	HP:0000546	Retinal degeneration	-	OMIM:600059
10594	PRPF8	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
10594	PRPF8	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
10594	PRPF8	HP:0000543	Optic disc pallor	1/1	OMIM:180100
10594	PRPF8	HP:0000545	Myopia	-	OMIM:180100
10599	SLCO1B1	HP:0010984	Digenic inheritance	-	OMIM:237450
10599	SLCO1B1	HP:0031137	Storage in hepatocytes	-	ORPHA:3111
10599	SLCO1B1	HP:0010473	Porphyrinuria	HP:0040282	ORPHA:3111
10599	SLCO1B1	HP:0001046	Intermittent jaundice	HP:0040283	ORPHA:3111
10599	SLCO1B1	HP:0001000	Abnormality of skin pigmentation	-	OMIM:237450
10599	SLCO1B1	HP:0032106	Conjunctival icterus	HP:0040283	ORPHA:3111
10599	SLCO1B1	HP:0031811	Bilirubinuria	HP:0040282	ORPHA:3111
10599	SLCO1B1	HP:0000924	Abnormality of the skeletal system	-	OMIM:237450
10599	SLCO1B1	HP:0000989	Pruritus	-	ORPHA:3111
10599	SLCO1B1	HP:0000952	Jaundice	-	OMIM:237450
10599	SLCO1B1	HP:0000952	Jaundice	HP:0040281	ORPHA:3111
10599	SLCO1B1	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:3111
10599	SLCO1B1	HP:0002908	Conjugated hyperbilirubinemia	-	OMIM:237450
10599	SLCO1B1	HP:0002908	Conjugated hyperbilirubinemia	HP:0040281	ORPHA:3111
10599	SLCO1B1	HP:0002904	Hyperbilirubinemia	HP:0040282	ORPHA:3111
10606	PAICS	HP:0002575	Tracheoesophageal fistula	1/2	OMIM:619859
10606	PAICS	HP:0008743	Coronal hypospadias	1/1	OMIM:619859
10606	PAICS	HP:0008689	Bilateral cryptorchidism	1/1	OMIM:619859
10606	PAICS	HP:0003811	Neonatal death	2/2	OMIM:619859
10606	PAICS	HP:0000007	Autosomal recessive inheritance	-	OMIM:619859
10606	PAICS	HP:0002032	Esophageal atresia	2/2	OMIM:619859
10606	PAICS	HP:0008439	Lumbar hemivertebrae	1/2	OMIM:619859
10606	PAICS	HP:0004209	Clinodactyly of the 5th finger	1/2	OMIM:619859
10606	PAICS	HP:0004322	Short stature	1/2	OMIM:619859
10606	PAICS	HP:0011461	Fetal onset	2/2	OMIM:619859
10606	PAICS	HP:0003196	Short nose	2/2	OMIM:619859
10606	PAICS	HP:0000921	Missing ribs	1/2	OMIM:619859
10606	PAICS	HP:0004502	Bilateral choanal atresia	1/2	OMIM:619859
10606	PAICS	HP:0000248	Brachycephaly	2/2	OMIM:619859
10606	PAICS	HP:0001561	Polyhydramnios	2/2	OMIM:619859
10606	PAICS	HP:0012368	Flat face	2/2	OMIM:619859
10606	PAICS	HP:0000369	Low-set ears	2/2	OMIM:619859
10606	PAICS	HP:0000316	Hypertelorism	1/2	OMIM:619859
10606	PAICS	HP:0005280	Depressed nasal bridge	2/2	OMIM:619859
10606	PAICS	HP:0000463	Anteverted nares	1/2	OMIM:619859
10606	PAICS	HP:0000470	Short neck	2/2	OMIM:619859
10606	PAICS	HP:0000453	Choanal atresia	1/2	OMIM:619859
10606	PAICS	HP:0000452	Choanal stenosis	1/2	OMIM:619859
10606	PAICS	HP:0001762	Talipes equinovarus	1/2	OMIM:619859
10613	ERLIN1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:401785
10613	ERLIN1	HP:0001288	Gait disturbance	7/7	OMIM:615681
10613	ERLIN1	HP:0001284	Areflexia	HP:0040283	ORPHA:401785
10613	ERLIN1	HP:0001260	Dysarthria	HP:0040282	ORPHA:401785
10613	ERLIN1	HP:0001260	Dysarthria	1/7	OMIM:615681
10613	ERLIN1	HP:0001257	Spasticity	7/7	OMIM:615681
10613	ERLIN1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:401785
10613	ERLIN1	HP:0001347	Hyperreflexia	3/3	OMIM:615681
10613	ERLIN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615681
10613	ERLIN1	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:401785
10613	ERLIN1	HP:0001317	Abnormal cerebellum morphology	3/3	OMIM:615681
10613	ERLIN1	HP:0002064	Spastic gait	HP:0040283	ORPHA:401785
10613	ERLIN1	HP:0002064	Spastic gait	3/7	OMIM:615681
10613	ERLIN1	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:401785
10613	ERLIN1	HP:0002061	Lower limb spasticity	7/7	OMIM:615681
10613	ERLIN1	HP:0003487	Babinski sign	6/7	OMIM:615681
10613	ERLIN1	HP:0002169	Clonus	HP:0040283	ORPHA:401785
10613	ERLIN1	HP:0002380	Fasciculations	0/7	OMIM:615681
10613	ERLIN1	HP:0002395	Lower limb hyperreflexia	6/7	OMIM:615681
10613	ERLIN1	HP:0003676	Progressive	-	OMIM:615681
10613	ERLIN1	HP:0003621	Juvenile onset	1/7	OMIM:615681
10613	ERLIN1	HP:0006844	Absent patellar reflexes	1/7	OMIM:615681
10613	ERLIN1	HP:0031993	Hoffmann sign	0/7	OMIM:615681
10613	ERLIN1	HP:0011463	Childhood onset	6/7	OMIM:615681
10613	ERLIN1	HP:0011448	Ankle clonus	2/7	OMIM:615681
10613	ERLIN1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:401785
10613	ERLIN1	HP:0003202	Skeletal muscle atrophy	3/3	OMIM:615681
10613	ERLIN1	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:401785
10613	ERLIN1	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:401785
10613	ERLIN1	HP:0030051	Tip-toe gait	4/7	OMIM:615681
10613	ERLIN1	HP:0002943	Thoracic scoliosis	HP:0040283	ORPHA:401785
10613	ERLIN1	HP:0002943	Thoracic scoliosis	1/7	OMIM:615681
10613	ERLIN1	HP:0012514	Lower limb pain	HP:0040283	ORPHA:401785
10616	RBCK1	HP:0003701	Proximal muscle weakness	-	OMIM:615895
10616	RBCK1	HP:0001250	Seizure	1/3	OMIM:615895
10616	RBCK1	HP:0002573	Hematochezia	2/3	OMIM:615895
10616	RBCK1	HP:0001396	Cholestasis	1/3	OMIM:615895
10616	RBCK1	HP:0001395	Hepatic fibrosis	1/3	OMIM:615895
10616	RBCK1	HP:0000076	Vesicoureteral reflux	1/3	OMIM:615895
10616	RBCK1	HP:0001324	Muscle weakness	2/3	OMIM:615895
10616	RBCK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615895
10616	RBCK1	HP:0002650	Scoliosis	HP:0040283	OMIM:615895
10616	RBCK1	HP:0032435	Neonatal omphalitis	1/3	OMIM:615895
10616	RBCK1	HP:0002718	Recurrent bacterial infections	2/3	OMIM:615895
10616	RBCK1	HP:0002716	Lymphadenopathy	2/3	OMIM:615895
10616	RBCK1	HP:0002721	Immunodeficiency	-	OMIM:615895
10616	RBCK1	HP:0002037	Inflammation of the large intestine	2/3	OMIM:615895
10616	RBCK1	HP:0002027	Abdominal pain	2/3	OMIM:615895
10616	RBCK1	HP:0002028	Chronic diarrhea	2/3	OMIM:615895
10616	RBCK1	HP:0003326	Myalgia	-	OMIM:615895
10616	RBCK1	HP:0003593	Infantile onset	1/3	OMIM:615895
10616	RBCK1	HP:0002240	Hepatomegaly	2/3	OMIM:615895
10616	RBCK1	HP:0008404	Nail dystrophy	1/3	OMIM:615895
10616	RBCK1	HP:0003676	Progressive	-	OMIM:615895
10616	RBCK1	HP:0001019	Erythroderma	1/3	OMIM:615895
10616	RBCK1	HP:0003623	Neonatal onset	2/3	OMIM:615895
10616	RBCK1	HP:0001974	Increased total leukocyte count	1/3	OMIM:615895
10616	RBCK1	HP:0001942	Metabolic acidosis	1/3	OMIM:615895
10616	RBCK1	HP:0001954	Recurrent fever	2/3	OMIM:615895
10616	RBCK1	HP:0001903	Anemia	1/3	OMIM:615895
10616	RBCK1	HP:0003075	Hypoproteinemia	1/3	OMIM:615895
10616	RBCK1	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:615895
10616	RBCK1	HP:0003202	Skeletal muscle atrophy	2/3	OMIM:615895
10616	RBCK1	HP:0000964	Eczematoid dermatitis	HP:0040283	OMIM:615895
10616	RBCK1	HP:0000963	Thin skin	1/3	OMIM:615895
10616	RBCK1	HP:0002840	Lymphadenitis	2/3	OMIM:615895
10616	RBCK1	HP:0001508	Failure to thrive	3/3	OMIM:615895
10616	RBCK1	HP:0001510	Growth delay	-	OMIM:615895
10616	RBCK1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	OMIM:615895
10616	RBCK1	HP:0001644	Dilated cardiomyopathy	1/3	OMIM:615895
10616	RBCK1	HP:0001635	Congestive heart failure	1/3	OMIM:615895
10616	RBCK1	HP:0001638	Cardiomyopathy	1/3	OMIM:615895
10616	RBCK1	HP:0001744	Splenomegaly	2/3	OMIM:615895
10616	RBCK1	HP:0000508	Ptosis	HP:0040283	OMIM:615895
10617	STAMBP	HP:0001156	Brachydactyly	-	OMIM:614261
10617	STAMBP	HP:0025104	Capillary malformation	10/10	OMIM:614261
10617	STAMBP	HP:0009882	Short distal phalanx of finger	19/20	OMIM:614261
10617	STAMBP	HP:0009879	Simplified gyral pattern	9/9	OMIM:614261
10617	STAMBP	HP:0001290	Generalized hypotonia	-	OMIM:614261
10617	STAMBP	HP:0001285	Spastic tetraparesis	8/10	OMIM:614261
10617	STAMBP	HP:0001250	Seizure	-	OMIM:614261
10617	STAMBP	HP:0001252	Hypotonia	-	OMIM:614261
10617	STAMBP	HP:0001263	Global developmental delay	10/10	OMIM:614261
10617	STAMBP	HP:0000076	Vesicoureteral reflux	HP:0040283	OMIM:614261
10617	STAMBP	HP:0000007	Autosomal recessive inheritance	-	OMIM:614261
10617	STAMBP	HP:0001336	Myoclonus	6/10	OMIM:614261
10617	STAMBP	HP:0000175	Cleft palate	-	OMIM:614261
10617	STAMBP	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:614261
10617	STAMBP	HP:0002059	Cerebral atrophy	-	OMIM:614261
10617	STAMBP	HP:0003429	CNS hypomyelination	5/8	OMIM:614261
10617	STAMBP	HP:0003577	Congenital onset	10/10	OMIM:614261
10617	STAMBP	HP:0010721	Abnormal hair whorl	-	OMIM:614261
10617	STAMBP	HP:0000648	Optic atrophy	6/8	OMIM:614261
10617	STAMBP	HP:0011344	Severe global developmental delay	-	OMIM:614261
10617	STAMBP	HP:0004322	Short stature	HP:0040283	OMIM:614261
10617	STAMBP	HP:0003196	Short nose	-	OMIM:614261
10617	STAMBP	HP:0030084	Clinodactyly	-	OMIM:614261
10617	STAMBP	HP:0000253	Progressive microcephaly	10/10	OMIM:614261
10617	STAMBP	HP:0025517	Hypoplastic hippocampus	6/7	OMIM:614261
10617	STAMBP	HP:0001508	Failure to thrive	-	OMIM:614261
10617	STAMBP	HP:0001518	Small for gestational age	7/10	OMIM:614261
10617	STAMBP	HP:0000365	Hearing impairment	-	OMIM:614261
10617	STAMBP	HP:0000369	Low-set ears	-	OMIM:614261
10617	STAMBP	HP:0000340	Sloping forehead	-	OMIM:614261
10617	STAMBP	HP:0001667	Right ventricular hypertrophy	-	OMIM:614261
10617	STAMBP	HP:0000316	Hypertelorism	-	OMIM:614261
10617	STAMBP	HP:0000327	Hypoplasia of the maxilla	-	OMIM:614261
10617	STAMBP	HP:0001655	Patent foramen ovale	-	OMIM:614261
10617	STAMBP	HP:0001629	Ventricular septal defect	-	OMIM:614261
10617	STAMBP	HP:0001631	Atrial septal defect	-	OMIM:614261
10617	STAMBP	HP:0012469	Infantile spasms	4/9	OMIM:614261
10617	STAMBP	HP:0001792	Small nail	-	OMIM:614261
10617	STAMBP	HP:0012448	Delayed myelination	-	OMIM:614261
10617	STAMBP	HP:0000445	Wide nose	-	OMIM:614261
10617	STAMBP	HP:0000508	Ptosis	-	OMIM:614261
10617	STAMBP	HP:0012510	Extra-axial cerebrospinal fluid accumulation	9/9	OMIM:614261
10621	POLR3F	HP:0000006	Autosomal dominant inheritance	-	OMIM:619872
10621	POLR3F	HP:0034319	CNS vasculitis with reactivation of varicella-zoster virus	2/2	OMIM:619872
10621	POLR3F	HP:0005318	Cerebral vasculitis	2/2	OMIM:619872
10625	IVNS1ABP	HP:0025188	Retinal vasculitis	-	OMIM:618969
10625	IVNS1ABP	HP:0032218	Decreased proportion of CD4-positive T cells	1/4	OMIM:618969
10625	IVNS1ABP	HP:0002583	Colitis	-	OMIM:618969
10625	IVNS1ABP	HP:0002571	Achalasia	-	OMIM:618969
10625	IVNS1ABP	HP:0010976	Decreased total B cell count	1/4	OMIM:618969
10625	IVNS1ABP	HP:0000006	Autosomal dominant inheritance	-	OMIM:618969
10625	IVNS1ABP	HP:0002608	Celiac disease	-	OMIM:618969
10625	IVNS1ABP	HP:0002721	Immunodeficiency	-	OMIM:618969
10625	IVNS1ABP	HP:0003460	Decreased circulating total IgA	1/3	OMIM:618969
10625	IVNS1ABP	HP:0020083	Furuncle	-	OMIM:618969
10625	IVNS1ABP	HP:0200043	Verrucae	-	OMIM:618969
10625	IVNS1ABP	HP:0032132	Decreased circulating total IgG concentration	1/3	OMIM:618969
10625	IVNS1ABP	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:618969
10625	IVNS1ABP	HP:0033004	Palmar warts	-	OMIM:618969
10625	IVNS1ABP	HP:0033005	Plantar warts	-	OMIM:618969
10625	IVNS1ABP	HP:0002850	Decreased circulating total IgM	1/3	OMIM:618969
10625	IVNS1ABP	HP:0011108	Recurrent sinusitis	-	OMIM:618969
10625	IVNS1ABP	HP:0012432	Chronic fatigue	-	OMIM:618969
10630	PDPN	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1606
10630	PDPN	HP:0002465	Poor speech	HP:0040281	ORPHA:1606
10630	PDPN	HP:0001107	Ocular albinism	HP:0040283	ORPHA:1606
10630	PDPN	HP:0008551	Microtia	HP:0040283	ORPHA:1606
10630	PDPN	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:1606
10630	PDPN	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1606
10630	PDPN	HP:0001250	Seizure	HP:0040282	ORPHA:1606
10630	PDPN	HP:0001252	Hypotonia	HP:0040281	ORPHA:1606
10630	PDPN	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1606
10630	PDPN	HP:0002591	Polyphagia	HP:0040283	ORPHA:1606
10630	PDPN	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1606
10630	PDPN	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:1606
10630	PDPN	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:1606
10630	PDPN	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000055	Abnormal female external genitalia morphology	HP:0040283	ORPHA:1606
10630	PDPN	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:1606
10630	PDPN	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000047	Hypospadias	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1606
10630	PDPN	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:1606
10630	PDPN	HP:0001344	Absent speech	HP:0040281	ORPHA:1606
10630	PDPN	HP:0002650	Scoliosis	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000160	Narrow mouth	HP:0040282	ORPHA:1606
10630	PDPN	HP:0000135	Hypogonadism	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000107	Renal cyst	HP:0040283	ORPHA:1606
10630	PDPN	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:1606
10630	PDPN	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:1606
10630	PDPN	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:1606
10630	PDPN	HP:0002019	Constipation	HP:0040282	ORPHA:1606
10630	PDPN	HP:0002015	Dysphagia	HP:0040282	ORPHA:1606
10630	PDPN	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1606
10630	PDPN	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1606
10630	PDPN	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:1606
10630	PDPN	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1606
10630	PDPN	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1606
10630	PDPN	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:1606
10630	PDPN	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1606
10630	PDPN	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1606
10630	PDPN	HP:0002242	Abnormal intestine morphology	HP:0040283	ORPHA:1606
10630	PDPN	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:1606
10630	PDPN	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:1606
10630	PDPN	HP:0001009	Telangiectasia	HP:0040283	ORPHA:1606
10630	PDPN	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1606
10630	PDPN	HP:0008499	High hypermetropia	HP:0040282	ORPHA:1606
10630	PDPN	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1606
10630	PDPN	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000639	Nystagmus	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1606
10630	PDPN	HP:0004322	Short stature	HP:0040283	ORPHA:1606
10630	PDPN	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1606
10630	PDPN	HP:0004378	Abnormality of the anus	HP:0040283	ORPHA:1606
10630	PDPN	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:1606
10630	PDPN	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:1606
10630	PDPN	HP:0012733	Macule	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:1606
10630	PDPN	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:1606
10630	PDPN	HP:0000717	Autism	HP:0040282	ORPHA:1606
10630	PDPN	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1606
10630	PDPN	HP:0003198	Myopathy	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000902	Rib fusion	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000878	11 pairs of ribs	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000892	Bifid ribs	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1606
10630	PDPN	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000286	Epicanthus	HP:0040282	ORPHA:1606
10630	PDPN	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:1606
10630	PDPN	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:1606
10630	PDPN	HP:0002808	Kyphosis	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000252	Microcephaly	HP:0040282	ORPHA:1606
10630	PDPN	HP:0000248	Brachycephaly	HP:0040282	ORPHA:1606
10630	PDPN	HP:0001508	Failure to thrive	HP:0040281	ORPHA:1606
10630	PDPN	HP:0001513	Obesity	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1606
10630	PDPN	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000343	Long philtrum	HP:0040281	ORPHA:1606
10630	PDPN	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1606
10630	PDPN	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:1606
10630	PDPN	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:1606
10630	PDPN	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000307	Pointed chin	HP:0040281	ORPHA:1606
10630	PDPN	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:1606
10630	PDPN	HP:0001734	Annular pancreas	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:1606
10630	PDPN	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1606
10630	PDPN	HP:0000486	Strabismus	HP:0040282	ORPHA:1606
10630	PDPN	HP:0000490	Deeply set eye	HP:0040281	ORPHA:1606
10630	PDPN	HP:0000464	Abnormality of the neck	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:1606
10630	PDPN	HP:0001773	Short foot	HP:0040281	ORPHA:1606
10630	PDPN	HP:0001743	Abnormality of the spleen	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1606
10630	PDPN	HP:0000518	Cataract	HP:0040283	ORPHA:1606
10630	PDPN	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000505	Visual impairment	HP:0040283	ORPHA:1606
10630	PDPN	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1606
10630	PDPN	HP:0011228	Horizontal eyebrow	HP:0040281	ORPHA:1606
10630	PDPN	HP:0000534	Abnormal eyebrow morphology	HP:0040282	ORPHA:1606
10641	NPRL2	HP:0002427	Expressive aphasia	HP:0040283	ORPHA:98820
10641	NPRL2	HP:0001250	Seizure	-	OMIM:617116
10641	NPRL2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:98820
10641	NPRL2	HP:0008765	Auditory hallucination	HP:0040283	ORPHA:98820
10641	NPRL2	HP:0007359	Focal-onset seizure	HP:0040281	ORPHA:98820
10641	NPRL2	HP:0002521	Hypsarrhythmia	HP:0040284	ORPHA:98820
10641	NPRL2	HP:0003829	Typified by incomplete penetrance	-	OMIM:617116
10641	NPRL2	HP:0025373	Interictal EEG abnormality	HP:0040282	ORPHA:98820
10641	NPRL2	HP:0012005	Deja vu aura	HP:0040283	ORPHA:98820
10641	NPRL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617116
10641	NPRL2	HP:0031284	Flushing	HP:0040283	ORPHA:98820
10641	NPRL2	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:98820
10641	NPRL2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:98820
10641	NPRL2	HP:0002126	Polymicrogyria	HP:0040284	ORPHA:98820
10641	NPRL2	HP:0003401	Paresthesia	HP:0040283	ORPHA:98820
10641	NPRL2	HP:0032046	Focal cortical dysplasia	1/2	OMIM:617116
10641	NPRL2	HP:0032046	Focal cortical dysplasia	HP:0040283	ORPHA:98820
10641	NPRL2	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:98820
10641	NPRL2	HP:0002367	Visual hallucination	HP:0040283	ORPHA:98820
10641	NPRL2	HP:0002349	Focal aware seizure	HP:0040283	ORPHA:98820
10641	NPRL2	HP:0010841	Multifocal epileptiform discharges	HP:0040283	ORPHA:98820
10641	NPRL2	HP:0007206	Hemimegalencephaly	HP:0040284	ORPHA:98820
10641	NPRL2	HP:0031951	Nocturnal seizures	HP:0040282	ORPHA:98820
10641	NPRL2	HP:0000729	Autistic behavior	HP:0040283	ORPHA:98820
10641	NPRL2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:98820
10641	NPRL2	HP:0000980	Pallor	HP:0040283	ORPHA:98820
10641	NPRL2	HP:0011185	EEG with focal epileptiform discharges	HP:0040281	ORPHA:98820
10641	NPRL2	HP:0011171	Simple febrile seizure	HP:0040284	ORPHA:98820
10641	NPRL2	HP:0012469	Infantile spasms	HP:0040283	ORPHA:98820
10641	NPRL2	HP:0012531	Pain	HP:0040283	ORPHA:98820
10644	IGF2BP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
10644	IGF2BP2	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
10644	IGF2BP2	HP:0003584	Late onset	-	OMIM:125853
10644	IGF2BP2	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
10644	IGF2BP2	HP:0000855	Insulin resistance	-	OMIM:125853
10651	MTX2	HP:0001290	Generalized hypotonia	5/6	OMIM:619127
10651	MTX2	HP:0100864	Short femoral neck	1/7	OMIM:619127
10651	MTX2	HP:0003819	Death in childhood	1/7	OMIM:619127
10651	MTX2	HP:0000097	Focal segmental glomerulosclerosis	3/7	OMIM:619127
10651	MTX2	HP:0000093	Proteinuria	3/7	OMIM:619127
10651	MTX2	HP:0001371	Flexion contracture	4/7	OMIM:619127
10651	MTX2	HP:0001387	Joint stiffness	2/7	OMIM:619127
10651	MTX2	HP:0002680	J-shaped sella turcica	1/7	OMIM:619127
10651	MTX2	HP:0008897	Postnatal growth retardation	6/6	OMIM:619127
10651	MTX2	HP:0006191	Deep palmar crease	1/7	OMIM:619127
10651	MTX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619127
10651	MTX2	HP:0031107	Decreased fibular diameter	1/7	OMIM:619127
10651	MTX2	HP:0000160	Narrow mouth	5/7	OMIM:619127
10651	MTX2	HP:0001403	Macrovesicular hepatic steatosis	2/7	OMIM:619127
10651	MTX2	HP:0002007	Frontal bossing	1/7	OMIM:619127
10651	MTX2	HP:0002155	Hypertriglyceridemia	1/7	OMIM:619127
10651	MTX2	HP:0010575	Dysplasia of the femoral head	2/7	OMIM:619127
10651	MTX2	HP:0003593	Infantile onset	2/5	OMIM:619127
10651	MTX2	HP:0002240	Hepatomegaly	4/7	OMIM:619127
10651	MTX2	HP:0008404	Nail dystrophy	2/7	OMIM:619127
10651	MTX2	HP:0001029	Poikiloderma	1/7	OMIM:619127
10651	MTX2	HP:0009771	Osteolytic defects of the phalanges of the hand	3/7	OMIM:619127
10651	MTX2	HP:0001952	Glucose intolerance	1/7	OMIM:619127
10651	MTX2	HP:0009064	Generalized lipodystrophy	4/7	OMIM:619127
10651	MTX2	HP:0000668	Hypodontia	1/7	OMIM:619127
10651	MTX2	HP:0004322	Short stature	6/6	OMIM:619127
10651	MTX2	HP:0004382	Mitral valve calcification	1/7	OMIM:619127
10651	MTX2	HP:0000767	Pectus excavatum	1/7	OMIM:619127
10651	MTX2	HP:0011463	Childhood onset	3/5	OMIM:619127
10651	MTX2	HP:0000883	Thin ribs	2/7	OMIM:619127
10651	MTX2	HP:0010284	Intra-oral hyperpigmentation	1/7	OMIM:619127
10651	MTX2	HP:0040217	Elevated hemoglobin A1c	1/7	OMIM:619127
10651	MTX2	HP:0045075	Sparse eyebrow	3/7	OMIM:619127
10651	MTX2	HP:0000972	Palmoplantar hyperkeratosis	1/7	OMIM:619127
10651	MTX2	HP:0000938	Osteopenia	3/7	OMIM:619127
10651	MTX2	HP:0005815	Supernumerary ribs	1/7	OMIM:619127
10651	MTX2	HP:0008070	Sparse hair	5/7	OMIM:619127
10651	MTX2	HP:0000270	Delayed cranial suture closure	5/7	OMIM:619127
10651	MTX2	HP:0000248	Brachycephaly	1/7	OMIM:619127
10651	MTX2	HP:0000218	High palate	1/7	OMIM:619127
10651	MTX2	HP:0002857	Genu valgum	2/7	OMIM:619127
10651	MTX2	HP:0002910	Elevated circulating hepatic transaminase concentration	3/7	OMIM:619127
10651	MTX2	HP:0005180	Tricuspid regurgitation	1/7	OMIM:619127
10651	MTX2	HP:0000343	Long philtrum	2/7	OMIM:619127
10651	MTX2	HP:0000348	High forehead	1/7	OMIM:619127
10651	MTX2	HP:0000347	Micrognathia	5/7	OMIM:619127
10651	MTX2	HP:0000322	Short philtrum	1/7	OMIM:619127
10651	MTX2	HP:0001653	Mitral regurgitation	2/7	OMIM:619127
10651	MTX2	HP:0000325	Triangular face	1/7	OMIM:619127
10651	MTX2	HP:0001655	Patent foramen ovale	1/7	OMIM:619127
10651	MTX2	HP:0001620	Abnormally high-pitched voice	1/7	OMIM:619127
10651	MTX2	HP:0005328	Progeroid facial appearance	2/7	OMIM:619127
10651	MTX2	HP:0001712	Left ventricular hypertrophy	3/7	OMIM:619127
10651	MTX2	HP:0005280	Depressed nasal bridge	1/7	OMIM:619127
10651	MTX2	HP:0000418	Narrow nasal ridge	1/7	OMIM:619127
10651	MTX2	HP:0000414	Bulbous nose	2/7	OMIM:619127
10651	MTX2	HP:0000430	Underdeveloped nasal alae	2/7	OMIM:619127
10651	MTX2	HP:0001852	Sandal gap	2/7	OMIM:619127
10651	MTX2	HP:0000520	Proptosis	2/7	OMIM:619127
10651	MTX2	HP:0000586	Shallow orbits	1/7	OMIM:619127
10653	SPINT2	HP:0002566	Intestinal malrotation	HP:0040283	OMIM:270420
10653	SPINT2	HP:0000073	Ureteral duplication	HP:0040283	OMIM:270420
10653	SPINT2	HP:0000075	Renal duplication	1/22	OMIM:270420
10653	SPINT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:270420
10653	SPINT2	HP:0000175	Cleft palate	1/22	OMIM:270420
10653	SPINT2	HP:0000143	Rectovaginal fistula	HP:0040283	OMIM:270420
10653	SPINT2	HP:0002023	Anal atresia	2/16	OMIM:270420
10653	SPINT2	HP:0200020	Corneal erosion	9/22	OMIM:270420
10653	SPINT2	HP:0003270	Abdominal distention	-	OMIM:270420
10653	SPINT2	HP:0000973	Cutis laxa	HP:0040283	OMIM:270420
10653	SPINT2	HP:0000256	Macrocephaly	HP:0040283	OMIM:270420
10653	SPINT2	HP:0001561	Polyhydramnios	5/15	OMIM:270420
10653	SPINT2	HP:0005208	Secretory diarrhea	22/22	OMIM:270420
10653	SPINT2	HP:0000369	Low-set ears	HP:0040283	OMIM:270420
10653	SPINT2	HP:0000316	Hypertelorism	3/22	OMIM:270420
10653	SPINT2	HP:0000453	Choanal atresia	10/22	OMIM:270420
10653	SPINT2	HP:0000588	Optic disc coloboma	HP:0040283	OMIM:270420
10654	PMVK	HP:0000006	Autosomal dominant inheritance	-	OMIM:175800
10654	PMVK	HP:0001036	Parakeratosis	-	OMIM:175800
10654	PMVK	HP:0200044	Porokeratosis	9/9	OMIM:175800
10654	PMVK	HP:0200044	Porokeratosis	HP:0040281	ORPHA:735
10654	PMVK	HP:0003621	Juvenile onset	-	OMIM:175800
10654	PMVK	HP:0011462	Young adult onset	-	OMIM:175800
10654	PMVK	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:735
10654	PMVK	HP:0000989	Pruritus	HP:0040282	ORPHA:735
10654	PMVK	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:735
10654	PMVK	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:735
10659	CELF2	HP:0002421	Poor head control	2/4	OMIM:619561
10659	CELF2	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
10659	CELF2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
10659	CELF2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
10659	CELF2	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
10659	CELF2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
10659	CELF2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
10659	CELF2	HP:0001250	Seizure	HP:0040282	ORPHA:442835
10659	CELF2	HP:0001250	Seizure	4/5	OMIM:619561
10659	CELF2	HP:0001252	Hypotonia	2/5	OMIM:619561
10659	CELF2	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
10659	CELF2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
10659	CELF2	HP:0001249	Intellectual disability	5/5	OMIM:619561
10659	CELF2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
10659	CELF2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
10659	CELF2	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
10659	CELF2	HP:0002540	Inability to walk	2/5	OMIM:619561
10659	CELF2	HP:0002521	Hypsarrhythmia	3/5	OMIM:619561
10659	CELF2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
10659	CELF2	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
10659	CELF2	HP:0025336	Delayed ability to sit	3/5	OMIM:619561
10659	CELF2	HP:0001337	Tremor	HP:0040283	ORPHA:442835
10659	CELF2	HP:0001337	Tremor	1/5	OMIM:619561
10659	CELF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619561
10659	CELF2	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
10659	CELF2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
10659	CELF2	HP:0012171	Stereotypical hand wringing	1/5	OMIM:619561
10659	CELF2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
10659	CELF2	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
10659	CELF2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
10659	CELF2	HP:0033128	Delayed ability to crawl	3/4	OMIM:619561
10659	CELF2	HP:0002119	Ventriculomegaly	1/5	OMIM:619561
10659	CELF2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
10659	CELF2	HP:0003593	Infantile onset	3/4	OMIM:619561
10659	CELF2	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
10659	CELF2	HP:0200134	Epileptic encephalopathy	3/5	OMIM:619561
10659	CELF2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
10659	CELF2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
10659	CELF2	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
10659	CELF2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
10659	CELF2	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
10659	CELF2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
10659	CELF2	HP:0003623	Neonatal onset	1/4	OMIM:619561
10659	CELF2	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
10659	CELF2	HP:0000639	Nystagmus	1/5	OMIM:619561
10659	CELF2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
10659	CELF2	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
10659	CELF2	HP:0004322	Short stature	HP:0040283	ORPHA:442835
10659	CELF2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
10659	CELF2	HP:0031936	Delayed ability to walk	3/5	OMIM:619561
10659	CELF2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
10659	CELF2	HP:0000750	Delayed speech and language development	5/5	OMIM:619561
10659	CELF2	HP:0000717	Autism	HP:0040283	ORPHA:442835
10659	CELF2	HP:0000729	Autistic behavior	4/5	OMIM:619561
10659	CELF2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
10659	CELF2	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
10659	CELF2	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
10659	CELF2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
10659	CELF2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
10659	CELF2	HP:0011097	Epileptic spasm	1/5	OMIM:619561
10659	CELF2	HP:0000348	High forehead	HP:0040283	ORPHA:442835
10659	CELF2	HP:0032989	Delayed ability to roll over	2/3	OMIM:619561
10659	CELF2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
10659	CELF2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
10659	CELF2	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
10659	CELF2	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
10659	CELF2	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
10659	CELF2	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
10659	CELF2	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
10660	LBX1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
10660	LBX1	HP:0001293	Cranial nerve compression	-	OMIM:131300
10660	LBX1	HP:0001250	Seizure	HP:0040283	ORPHA:661
10660	LBX1	HP:0001252	Hypotonia	HP:0040283	ORPHA:661
10660	LBX1	HP:0001252	Hypotonia	2/7	OMIM:615777
10660	LBX1	HP:0001249	Intellectual disability	5/7	OMIM:615777
10660	LBX1	HP:0001263	Global developmental delay	-	OMIM:615777
10660	LBX1	HP:0002572	Episodic vomiting	2/2	OMIM:619483
10660	LBX1	HP:0002515	Waddling gait	54/102	OMIM:131300
10660	LBX1	HP:0001382	Joint hypermobility	-	OMIM:615777
10660	LBX1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
10660	LBX1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
10660	LBX1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
10660	LBX1	HP:0001324	Muscle weakness	40/96	OMIM:131300
10660	LBX1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
10660	LBX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619483
10660	LBX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
10660	LBX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
10660	LBX1	HP:0002650	Scoliosis	12/14	OMIM:131300
10660	LBX1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
10660	LBX1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
10660	LBX1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
10660	LBX1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
10660	LBX1	HP:0000175	Cleft palate	2/7	OMIM:615777
10660	LBX1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:661
10660	LBX1	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:661
10660	LBX1	HP:0002046	Heat intolerance	2/2	OMIM:619483
10660	LBX1	HP:0003388	Easy fatigability	36/76	OMIM:131300
10660	LBX1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
10660	LBX1	HP:0002104	Apnea	2/2	OMIM:619483
10660	LBX1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040281	ORPHA:661
10660	LBX1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:661
10660	LBX1	HP:0011968	Feeding difficulties	2/2	OMIM:619483
10660	LBX1	HP:0003510	Severe short stature	7/7	OMIM:615777
10660	LBX1	HP:0002315	Headache	-	OMIM:131300
10660	LBX1	HP:0004976	Knee dislocation	6/7	OMIM:615777
10660	LBX1	HP:0009803	Short phalanx of finger	-	OMIM:615777
10660	LBX1	HP:0007110	Central hypoventilation	2/2	OMIM:619483
10660	LBX1	HP:0009763	Limb pain	63/92	OMIM:131300
10660	LBX1	HP:0003623	Neonatal onset	2/2	OMIM:619483
10660	LBX1	HP:0003621	Juvenile onset	-	OMIM:131300
10660	LBX1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
10660	LBX1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
10660	LBX1	HP:6001056	Out-toeing	-	OMIM:131300
10660	LBX1	HP:0000651	Diplopia	-	OMIM:131300
10660	LBX1	HP:0001956	Truncal obesity	2/7	OMIM:615777
10660	LBX1	HP:0001903	Anemia	HP:0040283	OMIM:131300
10660	LBX1	HP:0010049	Short metacarpal	-	OMIM:615777
10660	LBX1	HP:0000678	Dental crowding	-	OMIM:615777
10660	LBX1	HP:0000670	Carious teeth	-	OMIM:131300
10660	LBX1	HP:0011304	Broad thumb	2/7	OMIM:615777
10660	LBX1	HP:0000668	Hypodontia	-	OMIM:615777
10660	LBX1	HP:0000664	Synophrys	-	OMIM:615777
10660	LBX1	HP:0003005	Ganglioneuroma	HP:0040283	ORPHA:661
10660	LBX1	HP:0004396	Poor appetite	-	OMIM:131300
10660	LBX1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
10660	LBX1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
10660	LBX1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
10660	LBX1	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:661
10660	LBX1	HP:0003026	Short long bone	7/7	OMIM:615777
10660	LBX1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
10660	LBX1	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:661
10660	LBX1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
10660	LBX1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
10660	LBX1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
10660	LBX1	HP:0000750	Delayed speech and language development	-	OMIM:615777
10660	LBX1	HP:0011461	Fetal onset	7/7	OMIM:615777
10660	LBX1	HP:0000774	Narrow chest	2/7	OMIM:615777
10660	LBX1	HP:0000926	Platyspondyly	1/7	OMIM:615777
10660	LBX1	HP:0003180	Flat acetabular roof	-	OMIM:615777
10660	LBX1	HP:0004482	Relative macrocephaly	-	OMIM:615777
10660	LBX1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
10660	LBX1	HP:0000875	Episodic hypertension	2/2	OMIM:619483
10660	LBX1	HP:0000823	Delayed puberty	-	OMIM:131300
10660	LBX1	HP:0000894	Short clavicles	-	OMIM:615777
10660	LBX1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
10660	LBX1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
10660	LBX1	HP:0000286	Epicanthus	1/7	OMIM:615777
10660	LBX1	HP:0000280	Coarse facial features	2/7	OMIM:615777
10660	LBX1	HP:0002827	Hip dislocation	3/7	OMIM:615777
10660	LBX1	HP:0000252	Microcephaly	-	OMIM:615777
10660	LBX1	HP:0002878	Respiratory failure	2/2	OMIM:619483
10660	LBX1	HP:0002857	Genu valgum	-	OMIM:131300
10660	LBX1	HP:0001533	Slender build	-	OMIM:131300
10660	LBX1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
10660	LBX1	HP:0007807	Optic nerve compression	-	OMIM:131300
10660	LBX1	HP:0012368	Flat face	7/7	OMIM:615777
10660	LBX1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
10660	LBX1	HP:0000365	Hearing impairment	10/67	OMIM:131300
10660	LBX1	HP:0000343	Long philtrum	1/7	OMIM:615777
10660	LBX1	HP:0011001	Increased bone mineral density	-	OMIM:131300
10660	LBX1	HP:0000311	Round face	2/7	OMIM:615777
10660	LBX1	HP:0002970	Genu varum	-	OMIM:615777
10660	LBX1	HP:0000303	Mandibular prognathia	-	OMIM:131300
10660	LBX1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
10660	LBX1	HP:0012450	Chronic constipation	2/2	OMIM:619483
10660	LBX1	HP:0000470	Short neck	1/7	OMIM:615777
10660	LBX1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
10660	LBX1	HP:0001763	Pes planus	1/7	OMIM:615777
10660	LBX1	HP:0006747	Ganglioneuroblastoma	HP:0040283	ORPHA:661
10660	LBX1	HP:0001840	Metatarsus adductus	-	OMIM:615777
10660	LBX1	HP:0000520	Proptosis	2/4	OMIM:131300
10660	LBX1	HP:0000520	Proptosis	7/7	OMIM:615777
10660	LBX1	HP:0000592	Blue sclerae	2/7	OMIM:615777
10660	LBX1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
10660	LBX1	HP:0012514	Lower limb pain	4/4	OMIM:131300
10661	KLF1	HP:0010972	Anemia of inadequate production	-	OMIM:613673
10661	KLF1	HP:0000054	Micropenis	1/2	OMIM:613673
10661	KLF1	HP:0000047	Hypospadias	1/1	OMIM:613673
10661	KLF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613673
10661	KLF1	HP:0012132	Erythroid hyperplasia	3/4	OMIM:613673
10661	KLF1	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:613673
10661	KLF1	HP:0001433	Hepatosplenomegaly	2/2	OMIM:613673
10661	KLF1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:251380
10661	KLF1	HP:0003330	Abnormal bone structure	HP:0040282	ORPHA:46532
10661	KLF1	HP:0002007	Frontal bossing	1/1	OMIM:613673
10661	KLF1	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:251380
10661	KLF1	HP:0011904	Persistence of hemoglobin F	HP:0040281	ORPHA:46532
10661	KLF1	HP:0011904	Persistence of hemoglobin F	2/3	OMIM:613673
10661	KLF1	HP:0011904	Persistence of hemoglobin F	HP:0040280	ORPHA:251380
10661	KLF1	HP:0033281	Circulating nucleated red blood cells	3/4	OMIM:613673
10661	KLF1	HP:0008282	Unconjugated hyperbilirubinemia	2/2	OMIM:613673
10661	KLF1	HP:0003577	Congenital onset	3/4	OMIM:613673
10661	KLF1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:46532
10661	KLF1	HP:0002240	Hepatomegaly	2/3	OMIM:613673
10661	KLF1	HP:0008346	Increased red cell sickling tendency	HP:0040283	ORPHA:251380
10661	KLF1	HP:0004840	Hypochromic microcytic anemia	HP:0040283	ORPHA:251380
10661	KLF1	HP:0020062	Decreased hemoglobin concentration	1/1	OMIM:613673
10661	KLF1	HP:0032169	Severe infection	HP:0040283	ORPHA:251380
10661	KLF1	HP:0020181	Reduced haptoglobin level	1/1	OMIM:613673
10661	KLF1	HP:0003621	Juvenile onset	1/1	OMIM:613673
10661	KLF1	HP:0031851	Reduced hematocrit	1/1	OMIM:613673
10661	KLF1	HP:0001981	Schistocytosis	1/1	OMIM:613673
10661	KLF1	HP:0001923	Reticulocytosis	HP:0040283	ORPHA:251380
10661	KLF1	HP:0001923	Reticulocytosis	13/13	OMIM:613673
10661	KLF1	HP:0001903	Anemia	HP:0040281	ORPHA:46532
10661	KLF1	HP:0001903	Anemia	5/5	OMIM:613673
10661	KLF1	HP:0004322	Short stature	1/2	OMIM:613673
10661	KLF1	HP:0031965	Increased RBC distribution width	1/1	OMIM:613673
10661	KLF1	HP:0011461	Fetal onset	1/2	OMIM:613673
10661	KLF1	HP:0004447	Poikilocytosis	2/2	OMIM:613673
10661	KLF1	HP:0000821	Hypothyroidism	1/2	OMIM:613673
10661	KLF1	HP:0045047	HbS hemoglobin	HP:0040282	ORPHA:251380
10661	KLF1	HP:0000980	Pallor	HP:0040281	ORPHA:46532
10661	KLF1	HP:0034336	Splenic infarction	HP:0040283	ORPHA:251380
10661	KLF1	HP:0000260	Wide anterior fontanel	1/2	OMIM:613673
10661	KLF1	HP:0002829	Arthralgia	HP:0040283	ORPHA:251380
10661	KLF1	HP:0002904	Hyperbilirubinemia	2/3	OMIM:613673
10661	KLF1	HP:0001639	Hypertrophic cardiomyopathy	1/2	OMIM:613673
10661	KLF1	HP:0000488	Retinopathy	HP:0040283	ORPHA:251380
10661	KLF1	HP:0001789	Hydrops fetalis	1/4	OMIM:613673
10661	KLF1	HP:0001746	Asplenia	HP:0040283	ORPHA:251380
10661	KLF1	HP:0001744	Splenomegaly	HP:0040281	ORPHA:46532
10661	KLF1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:251380
10661	KLF1	HP:0001744	Splenomegaly	2/3	OMIM:613673
10661	KLF1	HP:0011273	Anisocytosis	2/2	OMIM:613673
10661	KLF1	HP:0001824	Weight loss	1/1	OMIM:613673
10661	KLF1	HP:0001878	Hemolytic anemia	2/3	OMIM:613673
10664	CTCF	HP:0001169	Broad palm	2/46	OMIM:615502
10664	CTCF	HP:0001182	Tapered finger	2/46	OMIM:615502
10664	CTCF	HP:0025116	Fetal distress	HP:0040283	ORPHA:363611
10664	CTCF	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1/46	OMIM:615502
10664	CTCF	HP:0025160	Abnormal temper tantrums	HP:0040283	ORPHA:363611
10664	CTCF	HP:0008551	Microtia	1/46	OMIM:615502
10664	CTCF	HP:0100806	Sepsis	HP:0040283	ORPHA:363611
10664	CTCF	HP:0001276	Hypertonia	2/2	OMIM:615502
10664	CTCF	HP:0001272	Cerebellar atrophy	1/25	OMIM:615502
10664	CTCF	HP:0001252	Hypotonia	22/39	OMIM:615502
10664	CTCF	HP:0001252	Hypotonia	HP:0040282	ORPHA:363611
10664	CTCF	HP:0001251	Ataxia	1/45	OMIM:615502
10664	CTCF	HP:0001249	Intellectual disability	56/56	OMIM:615502
10664	CTCF	HP:0001249	Intellectual disability	HP:0040282	ORPHA:363611
10664	CTCF	HP:0001263	Global developmental delay	50/50	OMIM:615502
10664	CTCF	HP:0006101	Finger syndactyly	1/46	OMIM:615502
10664	CTCF	HP:0001212	Prominent fingertip pads	HP:0040283	ORPHA:363611
10664	CTCF	HP:0001212	Prominent fingertip pads	1/46	OMIM:615502
10664	CTCF	HP:0002553	Highly arched eyebrow	3/46	OMIM:615502
10664	CTCF	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:363611
10664	CTCF	HP:0008807	Acetabular dysplasia	1/46	OMIM:615502
10664	CTCF	HP:0000059	Hypoplastic labia majora	HP:0040283	ORPHA:363611
10664	CTCF	HP:0001385	Hip dysplasia	2/46	OMIM:615502
10664	CTCF	HP:0001382	Joint hypermobility	2/46	OMIM:615502
10664	CTCF	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:363611
10664	CTCF	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:363611
10664	CTCF	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:363611
10664	CTCF	HP:0000028	Cryptorchidism	2/3	OMIM:615502
10664	CTCF	HP:0001332	Dystonia	1/45	OMIM:615502
10664	CTCF	HP:0033725	Thin corpus callosum	1/26	OMIM:615502
10664	CTCF	HP:0000006	Autosomal dominant inheritance	-	OMIM:615502
10664	CTCF	HP:0002650	Scoliosis	1/46	OMIM:615502
10664	CTCF	HP:0000194	Open mouth	1/46	OMIM:615502
10664	CTCF	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:363611
10664	CTCF	HP:0000160	Narrow mouth	7/50	OMIM:615502
10664	CTCF	HP:0000160	Narrow mouth	HP:0040283	ORPHA:363611
10664	CTCF	HP:0000175	Cleft palate	1/4	OMIM:615502
10664	CTCF	HP:0000175	Cleft palate	HP:0040283	ORPHA:363611
10664	CTCF	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:363611
10664	CTCF	HP:0002719	Recurrent infections	19/45	OMIM:615502
10664	CTCF	HP:0002719	Recurrent infections	HP:0040282	ORPHA:363611
10664	CTCF	HP:0002020	Gastroesophageal reflux	4/46	OMIM:615502
10664	CTCF	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:363611
10664	CTCF	HP:0004691	2-3 toe syndactyly	HP:0040283	ORPHA:363611
10664	CTCF	HP:0002000	Short columella	HP:0040283	ORPHA:363611
10664	CTCF	HP:0011800	Midface retrusion	3/46	OMIM:615502
10664	CTCF	HP:0011800	Midface retrusion	HP:0040283	ORPHA:363611
10664	CTCF	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:363611
10664	CTCF	HP:0002064	Spastic gait	2/45	OMIM:615502
10664	CTCF	HP:0002059	Cerebral atrophy	1/25	OMIM:615502
10664	CTCF	HP:0002119	Ventriculomegaly	6/29	OMIM:615502
10664	CTCF	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:363611
10664	CTCF	HP:0009623	Proximal placement of thumb	1/46	OMIM:615502
10664	CTCF	HP:0002162	Low posterior hairline	1/46	OMIM:615502
10664	CTCF	HP:0011822	Broad chin	1/46	OMIM:615502
10664	CTCF	HP:0003577	Congenital onset	4/4	OMIM:615502
10664	CTCF	HP:0100702	Arachnoid cyst	4/25	OMIM:615502
10664	CTCF	HP:0007018	Attention deficit hyperactivity disorder	4/46	OMIM:615502
10664	CTCF	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:363611
10664	CTCF	HP:0011968	Feeding difficulties	35/47	OMIM:615502
10664	CTCF	HP:0002360	Sleep abnormality	9/31	OMIM:615502
10664	CTCF	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:363611
10664	CTCF	HP:0010818	Generalized tonic seizure	1/46	OMIM:615502
10664	CTCF	HP:0200055	Small hand	1/46	OMIM:615502
10664	CTCF	HP:0009765	Low hanging columella	2/46	OMIM:615502
10664	CTCF	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:363611
10664	CTCF	HP:0010059	Broad hallux phalanx	HP:0040282	ORPHA:363611
10664	CTCF	HP:0000637	Long palpebral fissure	2/46	OMIM:615502
10664	CTCF	HP:0000601	Hypotelorism	1/46	OMIM:615502
10664	CTCF	HP:0000675	Macrodontia of permanent maxillary central incisor	HP:0040282	ORPHA:363611
10664	CTCF	HP:0000691	Microdontia	HP:0040283	ORPHA:363611
10664	CTCF	HP:0000656	Ectropion	1/46	OMIM:615502
10664	CTCF	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:363611
10664	CTCF	HP:0000664	Synophrys	HP:0040283	ORPHA:363611
10664	CTCF	HP:0004322	Short stature	1/4	OMIM:615502
10664	CTCF	HP:0006970	Periventricular leukomalacia	1/46	OMIM:615502
10664	CTCF	HP:0031936	Delayed ability to walk	22/40	OMIM:615502
10664	CTCF	HP:0000739	Anxiety	4/45	OMIM:615502
10664	CTCF	HP:0000733	Motor stereotypy	2/46	OMIM:615502
10664	CTCF	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:363611
10664	CTCF	HP:0000750	Delayed speech and language development	31/41	OMIM:615502
10664	CTCF	HP:0000716	Depression	1/46	OMIM:615502
10664	CTCF	HP:0000718	Aggressive behavior	2/46	OMIM:615502
10664	CTCF	HP:0000729	Autistic behavior	10/50	OMIM:615502
10664	CTCF	HP:0000729	Autistic behavior	HP:0040282	ORPHA:363611
10664	CTCF	HP:0000722	Compulsive behaviors	1/46	OMIM:615502
10664	CTCF	HP:0000708	Atypical behavior	HP:0040282	ORPHA:363611
10664	CTCF	HP:0009183	Joint contracture of the 5th finger	HP:0040283	ORPHA:363611
10664	CTCF	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:363611
10664	CTCF	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:363611
10664	CTCF	HP:0003196	Short nose	HP:0040283	ORPHA:363611
10664	CTCF	HP:0012810	Wide nasal base	1/46	OMIM:615502
10664	CTCF	HP:0040223	Pulmonary hemorrhage	HP:0040283	ORPHA:363611
10664	CTCF	HP:0045075	Sparse eyebrow	2/46	OMIM:615502
10664	CTCF	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:363611
10664	CTCF	HP:0000954	Single transverse palmar crease	5/50	OMIM:615502
10664	CTCF	HP:0000954	Single transverse palmar crease	HP:0040282	ORPHA:363611
10664	CTCF	HP:0000960	Sacral dimple	HP:0040283	ORPHA:363611
10664	CTCF	HP:0000960	Sacral dimple	1/4	OMIM:615502
10664	CTCF	HP:0000939	Osteoporosis	1/46	OMIM:615502
10664	CTCF	HP:0000938	Osteopenia	2/46	OMIM:615502
10664	CTCF	HP:0000938	Osteopenia	HP:0040283	ORPHA:363611
10664	CTCF	HP:0045025	Narrow palpebral fissure	1/46	OMIM:615502
10664	CTCF	HP:0000286	Epicanthus	HP:0040283	ORPHA:363611
10664	CTCF	HP:0000286	Epicanthus	8/50	OMIM:615502
10664	CTCF	HP:0000280	Coarse facial features	2/46	OMIM:615502
10664	CTCF	HP:0000275	Narrow face	2/46	OMIM:615502
10664	CTCF	HP:0000276	Long face	1/46	OMIM:615502
10664	CTCF	HP:0002808	Kyphosis	1/46	OMIM:615502
10664	CTCF	HP:0000252	Microcephaly	21/45	OMIM:615502
10664	CTCF	HP:0000252	Microcephaly	HP:0040282	ORPHA:363611
10664	CTCF	HP:0000248	Brachycephaly	4/46	OMIM:615502
10664	CTCF	HP:0000219	Thin upper lip vermilion	13/46	OMIM:615502
10664	CTCF	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:363611
10664	CTCF	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:363611
10664	CTCF	HP:0000233	Thin vermilion border	9/9	OMIM:615502
10664	CTCF	HP:0002857	Genu valgum	2/46	OMIM:615502
10664	CTCF	HP:0001508	Failure to thrive	HP:0040282	ORPHA:363611
10664	CTCF	HP:0001508	Failure to thrive	22/43	OMIM:615502
10664	CTCF	HP:0030043	Hip subluxation	1/46	OMIM:615502
10664	CTCF	HP:0001518	Small for gestational age	HP:0040282	ORPHA:363611
10664	CTCF	HP:0011081	Incisor macrodontia	1/4	OMIM:615502
10664	CTCF	HP:0012385	Camptodactyly	2/46	OMIM:615502
10664	CTCF	HP:0000378	Cupped ear	HP:0040283	ORPHA:363611
10664	CTCF	HP:0000378	Cupped ear	2/46	OMIM:615502
10664	CTCF	HP:0000396	Overfolded helix	3/46	OMIM:615502
10664	CTCF	HP:0006579	Prolonged neonatal jaundice	HP:0040283	ORPHA:363611
10664	CTCF	HP:0006528	Chronic lung disease	HP:0040283	ORPHA:363611
10664	CTCF	HP:0000365	Hearing impairment	10/42	OMIM:615502
10664	CTCF	HP:0000358	Posteriorly rotated ears	2/50	OMIM:615502
10664	CTCF	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:363611
10664	CTCF	HP:0000369	Low-set ears	3/50	OMIM:615502
10664	CTCF	HP:0000341	Narrow forehead	1/46	OMIM:615502
10664	CTCF	HP:0000341	Narrow forehead	HP:0040283	ORPHA:363611
10664	CTCF	HP:0000343	Long philtrum	7/50	OMIM:615502
10664	CTCF	HP:0000343	Long philtrum	HP:0040283	ORPHA:363611
10664	CTCF	HP:0000336	Prominent supraorbital ridges	1/46	OMIM:615502
10664	CTCF	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:363611
10664	CTCF	HP:0001680	Coarctation of aorta	1/4	OMIM:615502
10664	CTCF	HP:0000348	High forehead	2/50	OMIM:615502
10664	CTCF	HP:0000348	High forehead	HP:0040283	ORPHA:363611
10664	CTCF	HP:0000347	Micrognathia	4/4	OMIM:615502
10664	CTCF	HP:0000316	Hypertelorism	HP:0040283	ORPHA:363611
10664	CTCF	HP:0000316	Hypertelorism	6/50	OMIM:615502
10664	CTCF	HP:0001643	Patent ductus arteriosus	1/4	OMIM:615502
10664	CTCF	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:363611
10664	CTCF	HP:0000331	Short chin	1/46	OMIM:615502
10664	CTCF	HP:0000322	Short philtrum	1/46	OMIM:615502
10664	CTCF	HP:0000322	Short philtrum	HP:0040283	ORPHA:363611
10664	CTCF	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:363611
10664	CTCF	HP:0000325	Triangular face	1/46	OMIM:615502
10664	CTCF	HP:0001629	Ventricular septal defect	2/2	OMIM:615502
10664	CTCF	HP:0000308	Microretrognathia	1/46	OMIM:615502
10664	CTCF	HP:0000307	Pointed chin	1/46	OMIM:615502
10664	CTCF	HP:0001631	Atrial septal defect	7/10	OMIM:615502
10664	CTCF	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:363611
10664	CTCF	HP:0000303	Mandibular prognathia	5/46	OMIM:615502
10664	CTCF	HP:0005326	Hypoplastic philtrum	1/46	OMIM:615502
10664	CTCF	HP:0000400	Macrotia	2/46	OMIM:615502
10664	CTCF	HP:0005280	Depressed nasal bridge	2/46	OMIM:615502
10664	CTCF	HP:0000486	Strabismus	HP:0040282	ORPHA:363611
10664	CTCF	HP:0000486	Strabismus	2/4	OMIM:615502
10664	CTCF	HP:0000482	Microcornea	HP:0040283	ORPHA:363611
10664	CTCF	HP:0000494	Downslanted palpebral fissures	3/46	OMIM:615502
10664	CTCF	HP:0000490	Deeply set eye	HP:0040283	ORPHA:363611
10664	CTCF	HP:0000463	Anteverted nares	6/46	OMIM:615502
10664	CTCF	HP:0000463	Anteverted nares	HP:0040283	ORPHA:363611
10664	CTCF	HP:0012450	Chronic constipation	7/46	OMIM:615502
10664	CTCF	HP:0000455	Broad nasal tip	1/46	OMIM:615502
10664	CTCF	HP:0000455	Broad nasal tip	HP:0040283	ORPHA:363611
10664	CTCF	HP:0001770	Toe syndactyly	1/46	OMIM:615502
10664	CTCF	HP:0001769	Broad foot	2/46	OMIM:615502
10664	CTCF	HP:0001763	Pes planus	3/46	OMIM:615502
10664	CTCF	HP:0000411	Protruding ear	2/46	OMIM:615502
10664	CTCF	HP:0001741	Phimosis	HP:0040283	ORPHA:363611
10664	CTCF	HP:0001762	Talipes equinovarus	1/46	OMIM:615502
10664	CTCF	HP:0000431	Wide nasal bridge	3/46	OMIM:615502
10664	CTCF	HP:0001761	Pes cavus	1/45	OMIM:615502
10664	CTCF	HP:0000426	Prominent nasal bridge	2/46	OMIM:615502
10664	CTCF	HP:0000527	Long eyelashes	HP:0040282	ORPHA:363611
10664	CTCF	HP:0000527	Long eyelashes	6/50	OMIM:615502
10664	CTCF	HP:0001852	Sandal gap	HP:0040282	ORPHA:363611
10664	CTCF	HP:0000508	Ptosis	1/46	OMIM:615502
10664	CTCF	HP:0001831	Short toe	1/46	OMIM:615502
10664	CTCF	HP:0000582	Upslanted palpebral fissure	5/46	OMIM:615502
10664	CTCF	HP:0000581	Blepharophimosis	1/46	OMIM:615502
10664	CTCF	HP:0000592	Blue sclerae	1/46	OMIM:615502
10664	CTCF	HP:0011220	Prominent forehead	2/46	OMIM:615502
10664	CTCF	HP:0000574	Thick eyebrow	1/46	OMIM:615502
10664	CTCF	HP:0000574	Thick eyebrow	HP:0040282	ORPHA:363611
10664	CTCF	HP:0000540	Hypermetropia	3/4	OMIM:615502
10664	CTCF	HP:0000540	Hypermetropia	HP:0040282	ORPHA:363611
10667	FARS2	HP:0002490	Increased CSF lactate	1/2	OMIM:614946
10667	FARS2	HP:0007210	Lower limb amyotrophy	1/4	OMIM:617046
10667	FARS2	HP:0007210	Lower limb amyotrophy	HP:0040282	ORPHA:466722
10667	FARS2	HP:0002421	Poor head control	HP:0040283	ORPHA:466722
10667	FARS2	HP:0001272	Cerebellar atrophy	1/1	OMIM:614946
10667	FARS2	HP:0001250	Seizure	HP:0040282	ORPHA:466722
10667	FARS2	HP:0001250	Seizure	2/2	OMIM:614946
10667	FARS2	HP:0001252	Hypotonia	-	OMIM:614946
10667	FARS2	HP:0001260	Dysarthria	HP:0040282	ORPHA:466722
10667	FARS2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:466722
10667	FARS2	HP:0001258	Spastic paraplegia	4/4	OMIM:617046
10667	FARS2	HP:0007366	Atrophy/Degeneration affecting the brainstem	1/1	OMIM:614946
10667	FARS2	HP:0008689	Bilateral cryptorchidism	HP:0040283	ORPHA:466722
10667	FARS2	HP:0007340	Lower limb muscle weakness	4/4	OMIM:617046
10667	FARS2	HP:0002506	Diffuse cerebral atrophy	1/1	OMIM:614946
10667	FARS2	HP:0002505	Loss of ambulation	HP:0040282	ORPHA:466722
10667	FARS2	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	HP:0040283	ORPHA:466722
10667	FARS2	HP:0003819	Death in childhood	1/2	OMIM:614946
10667	FARS2	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:466722
10667	FARS2	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:466722
10667	FARS2	HP:0025321	Copper accumulation in liver	1/1	OMIM:614946
10667	FARS2	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:466722
10667	FARS2	HP:0001332	Dystonia	HP:0040283	ORPHA:466722
10667	FARS2	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:466722
10667	FARS2	HP:0001344	Absent speech	HP:0040283	ORPHA:466722
10667	FARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617046
10667	FARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614946
10667	FARS2	HP:0001336	Myoclonus	2/2	OMIM:614946
10667	FARS2	HP:0001336	Myoclonus	HP:0040283	ORPHA:466722
10667	FARS2	HP:0025488	Detrusor sphincter dyssynergia	HP:0040283	ORPHA:466722
10667	FARS2	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:466722
10667	FARS2	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:466722
10667	FARS2	HP:0003355	Aminoaciduria	HP:0040283	OMIM:614946
10667	FARS2	HP:0002080	Intention tremor	HP:0040282	ORPHA:466722
10667	FARS2	HP:0002067	Bradykinesia	HP:0040283	ORPHA:466722
10667	FARS2	HP:0002068	Neuromuscular dysphagia	HP:0040283	ORPHA:466722
10667	FARS2	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:466722
10667	FARS2	HP:0002059	Cerebral atrophy	1/1	OMIM:614946
10667	FARS2	HP:0008110	Equinovarus deformity	HP:0040283	ORPHA:466722
10667	FARS2	HP:0003487	Babinski sign	HP:0040282	ORPHA:466722
10667	FARS2	HP:0003487	Babinski sign	1/3	OMIM:617046
10667	FARS2	HP:0003484	Upper limb muscle weakness	0/8	OMIM:617046
10667	FARS2	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:614946
10667	FARS2	HP:0002120	Cerebral cortical atrophy	1/1	OMIM:614946
10667	FARS2	HP:0002119	Ventriculomegaly	-	OMIM:614946
10667	FARS2	HP:0002171	Gliosis	-	OMIM:614946
10667	FARS2	HP:0010549	Weakness due to upper motor neuron dysfunction	HP:0040282	ORPHA:466722
10667	FARS2	HP:0002268	Paroxysmal dystonia	HP:0040283	ORPHA:466722
10667	FARS2	HP:0003596	Middle age onset	1/4	OMIM:617046
10667	FARS2	HP:0100785	Insomnia	HP:0040283	ORPHA:466722
10667	FARS2	HP:0007020	Progressive spastic paraplegia	HP:0040280	ORPHA:466722
10667	FARS2	HP:0011968	Feeding difficulties	2/2	OMIM:614946
10667	FARS2	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:466722
10667	FARS2	HP:0002395	Lower limb hyperreflexia	4/4	OMIM:617046
10667	FARS2	HP:0002376	Developmental regression	HP:0040283	ORPHA:466722
10667	FARS2	HP:0002353	EEG abnormality	-	OMIM:614946
10667	FARS2	HP:0003677	Slowly progressive	-	OMIM:617046
10667	FARS2	HP:0025053	Elevated brain N-acetyl aspartate level by MRS	1/1	OMIM:614946
10667	FARS2	HP:0003623	Neonatal onset	2/2	OMIM:614946
10667	FARS2	HP:0001903	Anemia	HP:0040283	OMIM:614946
10667	FARS2	HP:0000675	Macrodontia of permanent maxillary central incisor	HP:0040283	ORPHA:466722
10667	FARS2	HP:0006999	Basal ganglia gliosis	1/1	OMIM:614946
10667	FARS2	HP:0012736	Profound global developmental delay	2/2	OMIM:614946
10667	FARS2	HP:0012707	Elevated brain lactate level by MRS	1/1	OMIM:614946
10667	FARS2	HP:0011462	Young adult onset	3/4	OMIM:617046
10667	FARS2	HP:0003128	Lactic acidosis	2/2	OMIM:614946
10667	FARS2	HP:0000278	Retrognathia	HP:0040283	ORPHA:466722
10667	FARS2	HP:0000252	Microcephaly	2/2	OMIM:614946
10667	FARS2	HP:0002882	Sudden episodic apnea	HP:0040283	ORPHA:466722
10667	FARS2	HP:0001522	Death in infancy	1/2	OMIM:614946
10667	FARS2	HP:0001510	Growth delay	-	OMIM:614946
10667	FARS2	HP:0006568	Increased hepatic glycogen content	1/2	OMIM:614946
10667	FARS2	HP:0005216	Impaired mastication	HP:0040283	ORPHA:466722
10667	FARS2	HP:0000365	Hearing impairment	HP:0040283	OMIM:614946
10667	FARS2	HP:0032794	Myoclonic seizure	2/2	OMIM:614946
10667	FARS2	HP:0000486	Strabismus	HP:0040283	ORPHA:466722
10667	FARS2	HP:0012465	Elevated hepatic iron concentration	1/1	OMIM:614946
10667	FARS2	HP:0012407	Scissor gait	HP:0040282	ORPHA:466722
10667	FARS2	HP:0000508	Ptosis	HP:0040283	ORPHA:466722
10667	FARS2	HP:0000505	Visual impairment	HP:0040283	OMIM:614946
10667	FARS2	HP:0001873	Thrombocytopenia	HP:0040283	OMIM:614946
10677	AVIL	HP:0003774	Stage 5 chronic kidney disease	2/2	OMIM:618594
10677	AVIL	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
10677	AVIL	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
10677	AVIL	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
10677	AVIL	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
10677	AVIL	HP:0000007	Autosomal recessive inheritance	-	OMIM:618594
10677	AVIL	HP:0031266	Podocyte foot process effacement	-	OMIM:618594
10677	AVIL	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
10677	AVIL	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
10677	AVIL	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
10677	AVIL	HP:0002315	Headache	HP:0040283	ORPHA:656
10677	AVIL	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
10677	AVIL	HP:0001967	Diffuse mesangial sclerosis	2/2	OMIM:618594
10677	AVIL	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
10677	AVIL	HP:0001945	Fever	HP:0040283	ORPHA:656
10677	AVIL	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
10677	AVIL	HP:0000737	Irritability	HP:0040283	ORPHA:656
10677	AVIL	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
10677	AVIL	HP:0000969	Edema	HP:0040281	ORPHA:656
10677	AVIL	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
10677	AVIL	HP:0012588	Steroid-resistant nephrotic syndrome	2/2	OMIM:618594
10677	AVIL	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
10681	GNB5	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:542306
10681	GNB5	HP:0002421	Poor head control	HP:0040283	ORPHA:542306
10681	GNB5	HP:0001270	Motor delay	3/5	OMIM:617182
10681	GNB5	HP:0001250	Seizure	HP:0040282	ORPHA:542306
10681	GNB5	HP:0001250	Seizure	4/9	OMIM:617173
10681	GNB5	HP:0001250	Seizure	4/9	OMIM:617182
10681	GNB5	HP:0001252	Hypotonia	HP:0040282	ORPHA:542306
10681	GNB5	HP:0001252	Hypotonia	6/9	OMIM:617173
10681	GNB5	HP:0001252	Hypotonia	6/9	OMIM:617182
10681	GNB5	HP:0001249	Intellectual disability	9/9	OMIM:617173
10681	GNB5	HP:0001249	Intellectual disability	9/13	OMIM:617182
10681	GNB5	HP:0001263	Global developmental delay	HP:0040281	ORPHA:542306
10681	GNB5	HP:0001263	Global developmental delay	9/9	OMIM:617173
10681	GNB5	HP:0001263	Global developmental delay	-	OMIM:617182
10681	GNB5	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:542306
10681	GNB5	HP:0001344	Absent speech	2/5	OMIM:617182
10681	GNB5	HP:0001344	Absent speech	HP:0040282	ORPHA:542306
10681	GNB5	HP:0000007	Autosomal recessive inheritance	-	OMIM:617173
10681	GNB5	HP:0000007	Autosomal recessive inheritance	-	OMIM:617182
10681	GNB5	HP:0002020	Gastroesophageal reflux	5/8	OMIM:617173
10681	GNB5	HP:0002020	Gastroesophageal reflux	5/8	OMIM:617182
10681	GNB5	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:542306
10681	GNB5	HP:0011704	Sick sinus syndrome	9/9	OMIM:617182
10681	GNB5	HP:0011704	Sick sinus syndrome	9/9	OMIM:617173
10681	GNB5	HP:0011704	Sick sinus syndrome	HP:0040282	ORPHA:542306
10681	GNB5	HP:0003593	Infantile onset	-	OMIM:617173
10681	GNB5	HP:0003593	Infantile onset	9/9	OMIM:617182
10681	GNB5	HP:0007010	Poor fine motor coordination	1/9	OMIM:617182
10681	GNB5	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:542306
10681	GNB5	HP:0007018	Attention deficit hyperactivity disorder	3/4	OMIM:617182
10681	GNB5	HP:0000639	Nystagmus	HP:0040282	ORPHA:542306
10681	GNB5	HP:0000639	Nystagmus	6/7	OMIM:617173
10681	GNB5	HP:0000639	Nystagmus	6/7	OMIM:617182
10681	GNB5	HP:0000752	Hyperactivity	4/4	OMIM:617182
10681	GNB5	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:542306
10681	GNB5	HP:0000750	Delayed speech and language development	8/8	OMIM:617173
10681	GNB5	HP:0000750	Delayed speech and language development	13/13	OMIM:617182
10681	GNB5	HP:0000817	Reduced eye contact	HP:0040283	ORPHA:542306
10681	GNB5	HP:0011675	Arrhythmia	HP:0040282	ORPHA:542306
10681	GNB5	HP:0012248	Prolonged PR interval	HP:0040283	ORPHA:542306
10681	GNB5	HP:0000252	Microcephaly	0/3	OMIM:617182
10681	GNB5	HP:0005155	Ventricular escape rhythm	HP:0040282	ORPHA:542306
10681	GNB5	HP:0001662	Bradycardia	6/6	OMIM:617173
10681	GNB5	HP:0001662	Bradycardia	6/6	OMIM:617182
10681	GNB5	HP:0001662	Bradycardia	HP:0040282	ORPHA:542306
10681	GNB5	HP:0001655	Patent foramen ovale	1/8	OMIM:617182
10681	GNB5	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:542306
10681	GNB5	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:542306
10681	GNB5	HP:0000512	Abnormal electroretinogram	3/9	OMIM:617173
10681	GNB5	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:542306
10681	GNB5	HP:0000563	Keratoconus	HP:0040283	ORPHA:542306
10681	GNB5	HP:0000546	Retinal degeneration	2/9	OMIM:617173
10681	GNB5	HP:0000546	Retinal degeneration	HP:0040283	ORPHA:542306
10682	EBP	HP:0001161	Hand polydactyly	HP:0040282	ORPHA:401973
10682	EBP	HP:0001134	Anterior polar cataract	1/1	OMIM:300960
10682	EBP	HP:0001104	Macular hypoplasia	1/1	OMIM:300960
10682	EBP	HP:0009941	Asymmetry of the mouth	HP:0040282	ORPHA:401973
10682	EBP	HP:0001197	Abnormality of prenatal development or birth	HP:0040283	ORPHA:35173
10682	EBP	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
10682	EBP	HP:0001293	Cranial nerve compression	-	OMIM:131300
10682	EBP	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:401973
10682	EBP	HP:0100807	Long fingers	HP:0040282	ORPHA:401973
10682	EBP	HP:0100807	Long fingers	1/1	OMIM:300960
10682	EBP	HP:0001276	Hypertonia	-	OMIM:300960
10682	EBP	HP:0001250	Seizure	1/1	OMIM:300960
10682	EBP	HP:0001250	Seizure	HP:0040282	ORPHA:401973
10682	EBP	HP:0001252	Hypotonia	1/1	OMIM:300960
10682	EBP	HP:0001252	Hypotonia	2/7	OMIM:615777
10682	EBP	HP:0001249	Intellectual disability	-	OMIM:300960
10682	EBP	HP:0001249	Intellectual disability	HP:0040282	ORPHA:401973
10682	EBP	HP:0001249	Intellectual disability	5/7	OMIM:615777
10682	EBP	HP:0001263	Global developmental delay	1/1	OMIM:300960
10682	EBP	HP:0001263	Global developmental delay	HP:0040282	ORPHA:401973
10682	EBP	HP:0001263	Global developmental delay	-	OMIM:615777
10682	EBP	HP:0007431	Congenital ichthyosiform erythroderma	-	OMIM:302960
10682	EBP	HP:0002515	Waddling gait	54/102	OMIM:131300
10682	EBP	HP:0002509	Limb hypertonia	HP:0040282	ORPHA:401973
10682	EBP	HP:0001371	Flexion contracture	HP:0040283	ORPHA:35173
10682	EBP	HP:0001382	Joint hypermobility	-	OMIM:615777
10682	EBP	HP:0002694	Sclerosis of skull base	-	OMIM:131300
10682	EBP	HP:0000028	Cryptorchidism	-	OMIM:300960
10682	EBP	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:401973
10682	EBP	HP:0008897	Postnatal growth retardation	-	OMIM:302960
10682	EBP	HP:0008897	Postnatal growth retardation	-	OMIM:615777
10682	EBP	HP:0008850	Severe postnatal growth retardation	HP:0040283	ORPHA:35173
10682	EBP	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1/8	OMIM:302960
10682	EBP	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
10682	EBP	HP:0001324	Muscle weakness	40/96	OMIM:131300
10682	EBP	HP:0001344	Absent speech	1/1	OMIM:300960
10682	EBP	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
10682	EBP	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
10682	EBP	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
10682	EBP	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:401973
10682	EBP	HP:0001305	Dandy-Walker malformation	-	OMIM:300960
10682	EBP	HP:0001305	Dandy-Walker malformation	1/8	OMIM:302960
10682	EBP	HP:0002650	Scoliosis	3/8	OMIM:302960
10682	EBP	HP:0002650	Scoliosis	12/14	OMIM:131300
10682	EBP	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
10682	EBP	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:302960
10682	EBP	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
10682	EBP	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
10682	EBP	HP:0008905	Rhizomelia	5/8	OMIM:302960
10682	EBP	HP:0025474	Erythematous plaque	HP:0040282	ORPHA:35173
10682	EBP	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
10682	EBP	HP:0000175	Cleft palate	HP:0040283	ORPHA:401973
10682	EBP	HP:0000175	Cleft palate	2/7	OMIM:615777
10682	EBP	HP:0007663	Reduced visual acuity	1/1	OMIM:300960
10682	EBP	HP:0008936	Axial hypotonia	1/1	OMIM:300960
10682	EBP	HP:0002777	Tracheal stenosis	-	OMIM:302960
10682	EBP	HP:0002787	Tracheal calcification	-	OMIM:302960
10682	EBP	HP:0000126	Hydronephrosis	HP:0040284	ORPHA:35173
10682	EBP	HP:0000126	Hydronephrosis	1/8	OMIM:302960
10682	EBP	HP:0001423	X-linked dominant inheritance	-	OMIM:302960
10682	EBP	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:35173
10682	EBP	HP:0002751	Kyphoscoliosis	1/8	OMIM:302960
10682	EBP	HP:0001419	X-linked recessive inheritance	-	OMIM:300960
10682	EBP	HP:0004691	2-3 toe syndactyly	HP:0040282	ORPHA:401973
10682	EBP	HP:0004691	2-3 toe syndactyly	-	OMIM:300960
10682	EBP	HP:0005989	Redundant neck skin	1/1	OMIM:300960
10682	EBP	HP:0002007	Frontal bossing	HP:0040282	ORPHA:35173
10682	EBP	HP:0002007	Frontal bossing	-	OMIM:302960
10682	EBP	HP:0011800	Midface retrusion	-	OMIM:300960
10682	EBP	HP:0011800	Midface retrusion	HP:0040282	ORPHA:401973
10682	EBP	HP:0002088	Abnormal lung morphology	HP:0040283	ORPHA:35173
10682	EBP	HP:0100560	Upper limb asymmetry	HP:0040282	ORPHA:35173
10682	EBP	HP:0100556	Hemiatrophy	-	OMIM:302960
10682	EBP	HP:0100559	Lower limb asymmetry	HP:0040282	ORPHA:35173
10682	EBP	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:401973
10682	EBP	HP:0003388	Easy fatigability	36/76	OMIM:131300
10682	EBP	HP:0010442	Polydactyly	-	OMIM:300960
10682	EBP	HP:0008131	Tarsal stippling	-	OMIM:302960
10682	EBP	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
10682	EBP	HP:0100569	Abnormally ossified vertebrae	HP:0040282	ORPHA:35173
10682	EBP	HP:0002119	Ventriculomegaly	1/8	OMIM:302960
10682	EBP	HP:0003465	Elevated 8(9)-cholestenol	HP:0040281	ORPHA:401973
10682	EBP	HP:0003465	Elevated 8(9)-cholestenol	-	OMIM:302960
10682	EBP	HP:0003462	Elevated 8-dehydrocholesterol	HP:0040281	ORPHA:401973
10682	EBP	HP:0003462	Elevated 8-dehydrocholesterol	-	OMIM:302960
10682	EBP	HP:0004736	Crossed fused renal ectopia	1/1	OMIM:300960
10682	EBP	HP:0010557	Overlapping fingers	HP:0040282	ORPHA:401973
10682	EBP	HP:0010557	Overlapping fingers	1/1	OMIM:300960
10682	EBP	HP:0003577	Congenital onset	-	OMIM:302960
10682	EBP	HP:0100702	Arachnoid cyst	HP:0040284	ORPHA:35173
10682	EBP	HP:0002232	Patchy alopecia	7/8	OMIM:302960
10682	EBP	HP:0002232	Patchy alopecia	HP:0040283	ORPHA:35173
10682	EBP	HP:0002208	Coarse hair	HP:0040283	ORPHA:35173
10682	EBP	HP:0010720	Abnormal hair pattern	HP:0040283	ORPHA:35173
10682	EBP	HP:0010655	Epiphyseal stippling	5/8	OMIM:302960
10682	EBP	HP:0010655	Epiphyseal stippling	HP:0040281	ORPHA:35173
10682	EBP	HP:0003510	Severe short stature	7/7	OMIM:615777
10682	EBP	HP:0002342	Intellectual disability, moderate	-	OMIM:302960
10682	EBP	HP:0001019	Erythroderma	6/8	OMIM:302960
10682	EBP	HP:0001019	Erythroderma	HP:0040282	ORPHA:35173
10682	EBP	HP:0002315	Headache	-	OMIM:131300
10682	EBP	HP:0004976	Knee dislocation	6/7	OMIM:615777
10682	EBP	HP:0009803	Short phalanx of finger	-	OMIM:615777
10682	EBP	HP:0008443	Neuropathic spinal arthropathy	HP:0040283	ORPHA:35173
10682	EBP	HP:0009763	Limb pain	63/92	OMIM:131300
10682	EBP	HP:0008434	Hypoplastic cervical vertebrae	HP:0040283	ORPHA:35173
10682	EBP	HP:0008420	Punctate vertebral calcifications	-	OMIM:302960
10682	EBP	HP:0003621	Juvenile onset	-	OMIM:131300
10682	EBP	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
10682	EBP	HP:0005590	Spotty hypopigmentation	HP:0040282	ORPHA:401973
10682	EBP	HP:0005590	Spotty hypopigmentation	1/1	OMIM:300960
10682	EBP	HP:0004241	Stippled calcification in carpal bones	-	OMIM:302960
10682	EBP	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
10682	EBP	HP:0000639	Nystagmus	-	OMIM:302960
10682	EBP	HP:6001056	Out-toeing	-	OMIM:131300
10682	EBP	HP:0000651	Diplopia	-	OMIM:131300
10682	EBP	HP:0001956	Truncal obesity	2/7	OMIM:615777
10682	EBP	HP:0001903	Anemia	HP:0040283	OMIM:131300
10682	EBP	HP:0010049	Short metacarpal	-	OMIM:615777
10682	EBP	HP:0010055	Broad hallux	HP:0040282	ORPHA:401973
10682	EBP	HP:0010055	Broad hallux	1/1	OMIM:300960
10682	EBP	HP:0000678	Dental crowding	-	OMIM:615777
10682	EBP	HP:0000653	Sparse eyelashes	HP:0040283	ORPHA:35173
10682	EBP	HP:0000653	Sparse eyelashes	-	OMIM:302960
10682	EBP	HP:0000670	Carious teeth	-	OMIM:131300
10682	EBP	HP:0011304	Broad thumb	2/7	OMIM:615777
10682	EBP	HP:0000668	Hypodontia	-	OMIM:615777
10682	EBP	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:35173
10682	EBP	HP:0000664	Synophrys	-	OMIM:615777
10682	EBP	HP:0004322	Short stature	-	OMIM:300960
10682	EBP	HP:0004322	Short stature	HP:0040282	ORPHA:401973
10682	EBP	HP:0004322	Short stature	HP:0040282	ORPHA:35173
10682	EBP	HP:0006958	Abnormal auditory evoked potentials	HP:0040282	ORPHA:401973
10682	EBP	HP:0004396	Poor appetite	-	OMIM:131300
10682	EBP	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
10682	EBP	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
10682	EBP	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
10682	EBP	HP:0003026	Short long bone	7/7	OMIM:615777
10682	EBP	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
10682	EBP	HP:0000752	Hyperactivity	HP:0040283	ORPHA:401973
10682	EBP	HP:0000752	Hyperactivity	-	OMIM:300960
10682	EBP	HP:0000767	Pectus excavatum	2/7	OMIM:615777
10682	EBP	HP:0000768	Pectus carinatum	1/7	OMIM:615777
10682	EBP	HP:0000765	Abnormal thorax morphology	-	OMIM:302960
10682	EBP	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
10682	EBP	HP:0000750	Delayed speech and language development	-	OMIM:615777
10682	EBP	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:401973
10682	EBP	HP:0011461	Fetal onset	7/7	OMIM:615777
10682	EBP	HP:0000774	Narrow chest	2/7	OMIM:615777
10682	EBP	HP:0005756	Neonatal epiphyseal stippling	HP:0040283	ORPHA:35173
10682	EBP	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:35173
10682	EBP	HP:0000926	Platyspondyly	1/7	OMIM:615777
10682	EBP	HP:0003180	Flat acetabular roof	-	OMIM:615777
10682	EBP	HP:0004482	Relative macrocephaly	-	OMIM:615777
10682	EBP	HP:0004468	Anomalous tracheal cartilage	HP:0040282	ORPHA:35173
10682	EBP	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
10682	EBP	HP:0000823	Delayed puberty	-	OMIM:131300
10682	EBP	HP:0000894	Short clavicles	-	OMIM:615777
10682	EBP	HP:0004552	Scarring alopecia of scalp	HP:0040283	ORPHA:35173
10682	EBP	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
10682	EBP	HP:0045075	Sparse eyebrow	HP:0040283	ORPHA:35173
10682	EBP	HP:0045075	Sparse eyebrow	-	OMIM:302960
10682	EBP	HP:0100259	Postaxial polydactyly	1/8	OMIM:302960
10682	EBP	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
10682	EBP	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:35173
10682	EBP	HP:0000969	Edema	-	OMIM:302960
10682	EBP	HP:0000960	Sacral dimple	HP:0040282	ORPHA:401973
10682	EBP	HP:0000960	Sacral dimple	1/1	OMIM:300960
10682	EBP	HP:0045025	Narrow palpebral fissure	1/1	OMIM:300960
10682	EBP	HP:0008070	Sparse hair	-	OMIM:302960
10682	EBP	HP:0008064	Ichthyosis	HP:0040282	ORPHA:401973
10682	EBP	HP:0008064	Ichthyosis	HP:0040282	ORPHA:35173
10682	EBP	HP:0008064	Ichthyosis	-	OMIM:300960
10682	EBP	HP:0040189	Scaling skin	HP:0040282	ORPHA:35173
10682	EBP	HP:0000286	Epicanthus	1/7	OMIM:615777
10682	EBP	HP:0000280	Coarse facial features	2/7	OMIM:615777
10682	EBP	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:35173
10682	EBP	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:401973
10682	EBP	HP:0000272	Malar flattening	-	OMIM:302960
10682	EBP	HP:0002827	Hip dislocation	HP:0040283	ORPHA:35173
10682	EBP	HP:0002827	Hip dislocation	3/7	OMIM:615777
10682	EBP	HP:0002808	Kyphosis	-	OMIM:300960
10682	EBP	HP:0002808	Kyphosis	HP:0040282	ORPHA:401973
10682	EBP	HP:0000238	Hydrocephalus	-	OMIM:300960
10682	EBP	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:401973
10682	EBP	HP:0000237	Small anterior fontanelle	1/1	OMIM:300960
10682	EBP	HP:0000252	Microcephaly	-	OMIM:615777
10682	EBP	HP:0000218	High palate	1/1	OMIM:300960
10682	EBP	HP:0000218	High palate	HP:0040282	ORPHA:401973
10682	EBP	HP:0000218	High palate	HP:0040283	ORPHA:35173
10682	EBP	HP:0001561	Polyhydramnios	-	OMIM:302960
10682	EBP	HP:0002857	Genu valgum	-	OMIM:131300
10682	EBP	HP:0001533	Slender build	-	OMIM:131300
10682	EBP	HP:0001508	Failure to thrive	1/1	OMIM:300960
10682	EBP	HP:0001508	Failure to thrive	HP:0040282	ORPHA:401973
10682	EBP	HP:0001508	Failure to thrive	-	OMIM:302960
10682	EBP	HP:0002832	Calcific stippling	-	OMIM:302960
10682	EBP	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
10682	EBP	HP:0007807	Optic nerve compression	-	OMIM:131300
10682	EBP	HP:0012368	Flat face	7/7	OMIM:615777
10682	EBP	HP:0012368	Flat face	-	OMIM:302960
10682	EBP	HP:0000377	Abnormal pinna morphology	HP:0040284	ORPHA:35173
10682	EBP	HP:0000377	Abnormal pinna morphology	-	OMIM:302960
10682	EBP	HP:0000396	Overfolded helix	1/1	OMIM:300960
10682	EBP	HP:0002937	Hemivertebrae	2/8	OMIM:302960
10682	EBP	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
10682	EBP	HP:0000365	Hearing impairment	1/8	OMIM:302960
10682	EBP	HP:0000365	Hearing impairment	10/67	OMIM:131300
10682	EBP	HP:0000358	Posteriorly rotated ears	1/1	OMIM:300960
10682	EBP	HP:0000369	Low-set ears	1/1	OMIM:300960
10682	EBP	HP:0000369	Low-set ears	HP:0040282	ORPHA:401973
10682	EBP	HP:0000369	Low-set ears	HP:0040283	ORPHA:35173
10682	EBP	HP:0000343	Long philtrum	1/7	OMIM:615777
10682	EBP	HP:0011001	Increased bone mineral density	-	OMIM:131300
10682	EBP	HP:0002999	Patellar dislocation	-	OMIM:302960
10682	EBP	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:35173
10682	EBP	HP:0000347	Micrognathia	1/1	OMIM:300960
10682	EBP	HP:0000347	Micrognathia	HP:0040282	ORPHA:401973
10682	EBP	HP:0001650	Aortic valve stenosis	HP:0040282	ORPHA:401973
10682	EBP	HP:0001650	Aortic valve stenosis	-	OMIM:300960
10682	EBP	HP:0000319	Smooth philtrum	1/1	OMIM:300960
10682	EBP	HP:0000316	Hypertelorism	HP:0040282	ORPHA:401973
10682	EBP	HP:0000316	Hypertelorism	HP:0040283	ORPHA:35173
10682	EBP	HP:0000311	Round face	2/7	OMIM:615777
10682	EBP	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:35173
10682	EBP	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:401973
10682	EBP	HP:0002970	Genu varum	-	OMIM:615777
10682	EBP	HP:0000308	Microretrognathia	-	OMIM:300960
10682	EBP	HP:0000303	Mandibular prognathia	-	OMIM:131300
10682	EBP	HP:0006619	Anterior rib punctate calcifications	HP:0040282	ORPHA:35173
10682	EBP	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:35173
10682	EBP	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:35173
10682	EBP	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
10682	EBP	HP:0000482	Microcornea	HP:0040283	ORPHA:35173
10682	EBP	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:35173
10682	EBP	HP:0000494	Downslanted palpebral fissures	-	OMIM:302960
10682	EBP	HP:0011120	Concave nasal ridge	-	OMIM:302960
10682	EBP	HP:0000472	Long neck	HP:0040282	ORPHA:401973
10682	EBP	HP:0000472	Long neck	1/1	OMIM:300960
10682	EBP	HP:0000474	Thickened nuchal skin fold	HP:0040282	ORPHA:401973
10682	EBP	HP:0000470	Short neck	-	OMIM:302960
10682	EBP	HP:0000470	Short neck	1/7	OMIM:615777
10682	EBP	HP:0012433	Abnormal social behavior	HP:0040282	ORPHA:401973
10682	EBP	HP:0001769	Broad foot	HP:0040283	OMIM:615777
10682	EBP	HP:0001763	Pes planus	1/7	OMIM:615777
10682	EBP	HP:0001776	Bilateral talipes equinovarus	1/8	OMIM:302960
10682	EBP	HP:0000414	Bulbous nose	1/1	OMIM:300960
10682	EBP	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:35173
10682	EBP	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:401973
10682	EBP	HP:0000426	Prominent nasal bridge	1/1	OMIM:300960
10682	EBP	HP:0000422	Abnormal nasal bridge morphology	HP:0040282	ORPHA:401973
10682	EBP	HP:0000518	Cataract	-	OMIM:300960
10682	EBP	HP:0000518	Cataract	HP:0040282	ORPHA:401973
10682	EBP	HP:0000518	Cataract	HP:0040282	ORPHA:35173
10682	EBP	HP:0000518	Cataract	6/8	OMIM:302960
10682	EBP	HP:0001845	Overlapping toe	HP:0040282	ORPHA:401973
10682	EBP	HP:0001845	Overlapping toe	1/1	OMIM:300960
10682	EBP	HP:0001840	Metatarsus adductus	-	OMIM:615777
10682	EBP	HP:0000520	Proptosis	2/4	OMIM:131300
10682	EBP	HP:0000520	Proptosis	7/7	OMIM:615777
10682	EBP	HP:0000506	Telecanthus	HP:0040282	ORPHA:401973
10682	EBP	HP:0000501	Glaucoma	-	OMIM:302960
10682	EBP	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:300960
10682	EBP	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:401973
10682	EBP	HP:0000592	Blue sclerae	2/7	OMIM:615777
10682	EBP	HP:0000568	Microphthalmia	HP:0040282	ORPHA:401973
10682	EBP	HP:0000568	Microphthalmia	HP:0040283	ORPHA:35173
10682	EBP	HP:0000568	Microphthalmia	-	OMIM:302960
10682	EBP	HP:0000565	Esotropia	1/1	OMIM:300960
10682	EBP	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
10682	EBP	HP:0012514	Lower limb pain	4/4	OMIM:131300
10683	DLL3	HP:0002435	Meningocele	HP:0040283	ORPHA:2311
10683	DLL3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
10683	DLL3	HP:0001293	Cranial nerve compression	-	OMIM:131300
10683	DLL3	HP:0001252	Hypotonia	2/7	OMIM:615777
10683	DLL3	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2311
10683	DLL3	HP:0001249	Intellectual disability	5/7	OMIM:615777
10683	DLL3	HP:0001263	Global developmental delay	-	OMIM:615777
10683	DLL3	HP:6000652	Rib spur	-	OMIM:277300
10683	DLL3	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:2311
10683	DLL3	HP:0010978	Abnormality of immune system physiology	HP:0040281	ORPHA:2311
10683	DLL3	HP:0002515	Waddling gait	54/102	OMIM:131300
10683	DLL3	HP:0000069	Abnormality of the ureter	HP:0040283	ORPHA:2311
10683	DLL3	HP:0001382	Joint hypermobility	-	OMIM:615777
10683	DLL3	HP:0000047	Hypospadias	HP:0040283	ORPHA:2311
10683	DLL3	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2311
10683	DLL3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
10683	DLL3	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2311
10683	DLL3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
10683	DLL3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
10683	DLL3	HP:0001324	Muscle weakness	40/96	OMIM:131300
10683	DLL3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
10683	DLL3	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:2311
10683	DLL3	HP:0000007	Autosomal recessive inheritance	-	OMIM:277300
10683	DLL3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
10683	DLL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
10683	DLL3	HP:0002650	Scoliosis	HP:0040281	ORPHA:2311
10683	DLL3	HP:0002650	Scoliosis	12/14	OMIM:131300
10683	DLL3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
10683	DLL3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
10683	DLL3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
10683	DLL3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
10683	DLL3	HP:0000175	Cleft palate	HP:0040283	ORPHA:2311
10683	DLL3	HP:0000175	Cleft palate	2/7	OMIM:615777
10683	DLL3	HP:0002751	Kyphoscoliosis	14/15	OMIM:277300
10683	DLL3	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:2311
10683	DLL3	HP:0003310	Abnormal odontoid process morphology	-	OMIM:277300
10683	DLL3	HP:0003305	Block vertebrae	-	OMIM:277300
10683	DLL3	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2311
10683	DLL3	HP:0003388	Easy fatigability	36/76	OMIM:131300
10683	DLL3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
10683	DLL3	HP:0100589	Urogenital fistula	HP:0040283	ORPHA:2311
10683	DLL3	HP:0003422	Vertebral segmentation defect	12/13	OMIM:277300
10683	DLL3	HP:0003422	Vertebral segmentation defect	HP:0040281	ORPHA:2311
10683	DLL3	HP:0003418	Back pain	3/4	OMIM:277300
10683	DLL3	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2311
10683	DLL3	HP:0002205	Recurrent respiratory infections	-	OMIM:277300
10683	DLL3	HP:0003510	Severe short stature	-	OMIM:277300
10683	DLL3	HP:0003510	Severe short stature	7/7	OMIM:615777
10683	DLL3	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:277300
10683	DLL3	HP:0002315	Headache	-	OMIM:131300
10683	DLL3	HP:0004976	Knee dislocation	6/7	OMIM:615777
10683	DLL3	HP:0009803	Short phalanx of finger	-	OMIM:615777
10683	DLL3	HP:0010772	Anomalous pulmonary venous return	HP:0040283	ORPHA:2311
10683	DLL3	HP:0009763	Limb pain	63/92	OMIM:131300
10683	DLL3	HP:0003621	Juvenile onset	-	OMIM:131300
10683	DLL3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
10683	DLL3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
10683	DLL3	HP:6001056	Out-toeing	-	OMIM:131300
10683	DLL3	HP:0000651	Diplopia	-	OMIM:131300
10683	DLL3	HP:0001956	Truncal obesity	2/7	OMIM:615777
10683	DLL3	HP:0001903	Anemia	HP:0040283	OMIM:131300
10683	DLL3	HP:0010049	Short metacarpal	-	OMIM:615777
10683	DLL3	HP:0000678	Dental crowding	-	OMIM:615777
10683	DLL3	HP:0000670	Carious teeth	-	OMIM:131300
10683	DLL3	HP:0011304	Broad thumb	2/7	OMIM:615777
10683	DLL3	HP:0000668	Hypodontia	-	OMIM:615777
10683	DLL3	HP:0000664	Synophrys	-	OMIM:615777
10683	DLL3	HP:0004322	Short stature	3/3	OMIM:277300
10683	DLL3	HP:0004322	Short stature	HP:0040281	ORPHA:2311
10683	DLL3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2311
10683	DLL3	HP:0004396	Poor appetite	-	OMIM:131300
10683	DLL3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
10683	DLL3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
10683	DLL3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
10683	DLL3	HP:0003026	Short long bone	7/7	OMIM:615777
10683	DLL3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
10683	DLL3	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:2311
10683	DLL3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
10683	DLL3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
10683	DLL3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
10683	DLL3	HP:0000750	Delayed speech and language development	-	OMIM:615777
10683	DLL3	HP:0011461	Fetal onset	2/2	OMIM:277300
10683	DLL3	HP:0011461	Fetal onset	7/7	OMIM:615777
10683	DLL3	HP:0000774	Narrow chest	2/7	OMIM:615777
10683	DLL3	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:2311
10683	DLL3	HP:0000926	Platyspondyly	1/7	OMIM:615777
10683	DLL3	HP:0003180	Flat acetabular roof	-	OMIM:615777
10683	DLL3	HP:0000902	Rib fusion	HP:0040281	ORPHA:2311
10683	DLL3	HP:0000902	Rib fusion	2/2	OMIM:277300
10683	DLL3	HP:0004482	Relative macrocephaly	-	OMIM:615777
10683	DLL3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
10683	DLL3	HP:0000823	Delayed puberty	-	OMIM:131300
10683	DLL3	HP:0000894	Short clavicles	-	OMIM:615777
10683	DLL3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
10683	DLL3	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:2311
10683	DLL3	HP:0003270	Abdominal distention	-	OMIM:277300
10683	DLL3	HP:0010306	Short thorax	HP:0040281	ORPHA:2311
10683	DLL3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
10683	DLL3	HP:0000286	Epicanthus	1/7	OMIM:615777
10683	DLL3	HP:0000280	Coarse facial features	2/7	OMIM:615777
10683	DLL3	HP:0000256	Macrocephaly	HP:0040283	ORPHA:2311
10683	DLL3	HP:0000269	Prominent occiput	HP:0040283	ORPHA:2311
10683	DLL3	HP:0005108	Abnormal intervertebral disk morphology	HP:0040281	ORPHA:2311
10683	DLL3	HP:0002827	Hip dislocation	3/7	OMIM:615777
10683	DLL3	HP:0002808	Kyphosis	HP:0040282	ORPHA:2311
10683	DLL3	HP:0000252	Microcephaly	HP:0040283	ORPHA:2311
10683	DLL3	HP:0000252	Microcephaly	-	OMIM:615777
10683	DLL3	HP:0002857	Genu valgum	-	OMIM:131300
10683	DLL3	HP:0001522	Death in infancy	-	OMIM:277300
10683	DLL3	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2311
10683	DLL3	HP:0001538	Protuberant abdomen	2/2	OMIM:277300
10683	DLL3	HP:0001533	Slender build	-	OMIM:131300
10683	DLL3	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2311
10683	DLL3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
10683	DLL3	HP:0007807	Optic nerve compression	-	OMIM:131300
10683	DLL3	HP:0012368	Flat face	7/7	OMIM:615777
10683	DLL3	HP:0002937	Hemivertebrae	2/3	OMIM:277300
10683	DLL3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
10683	DLL3	HP:0002948	Vertebral fusion	4/5	OMIM:277300
10683	DLL3	HP:0000365	Hearing impairment	10/67	OMIM:131300
10683	DLL3	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:2311
10683	DLL3	HP:0000343	Long philtrum	HP:0040283	ORPHA:2311
10683	DLL3	HP:0000343	Long philtrum	1/7	OMIM:615777
10683	DLL3	HP:0011001	Increased bone mineral density	-	OMIM:131300
10683	DLL3	HP:0000337	Broad forehead	HP:0040283	ORPHA:2311
10683	DLL3	HP:0000311	Round face	2/7	OMIM:615777
10683	DLL3	HP:0002970	Genu varum	-	OMIM:615777
10683	DLL3	HP:0000303	Mandibular prognathia	-	OMIM:131300
10683	DLL3	HP:0006655	Rib segmentation abnormalities	HP:0040281	ORPHA:2311
10683	DLL3	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:2311
10683	DLL3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
10683	DLL3	HP:0000476	Cystic hygroma	1/2	OMIM:277300
10683	DLL3	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2311
10683	DLL3	HP:0000470	Short neck	14/15	OMIM:277300
10683	DLL3	HP:0000470	Short neck	HP:0040281	ORPHA:2311
10683	DLL3	HP:0000470	Short neck	1/7	OMIM:615777
10683	DLL3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
10683	DLL3	HP:0001763	Pes planus	1/7	OMIM:615777
10683	DLL3	HP:0001840	Metatarsus adductus	-	OMIM:615777
10683	DLL3	HP:0000520	Proptosis	2/4	OMIM:131300
10683	DLL3	HP:0000520	Proptosis	7/7	OMIM:615777
10683	DLL3	HP:0000592	Blue sclerae	2/7	OMIM:615777
10683	DLL3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
10683	DLL3	HP:0012514	Lower limb pain	4/4	OMIM:131300
10686	CLDN16	HP:0003774	Stage 5 chronic kidney disease	7/45	OMIM:248250
10686	CLDN16	HP:0001281	Tetany	3/24	OMIM:248250
10686	CLDN16	HP:0001250	Seizure	-	OMIM:248250
10686	CLDN16	HP:0000083	Renal insufficiency	32/32	OMIM:248250
10686	CLDN16	HP:0000093	Proteinuria	1/1	OMIM:248250
10686	CLDN16	HP:0012052	Low serum calcitriol	1/1	OMIM:248250
10686	CLDN16	HP:0008872	Feeding difficulties in infancy	-	OMIM:248250
10686	CLDN16	HP:0001324	Muscle weakness	1/1	OMIM:248250
10686	CLDN16	HP:0000010	Recurrent urinary tract infections	23/42	OMIM:248250
10686	CLDN16	HP:0000007	Autosomal recessive inheritance	20/20	OMIM:248250
10686	CLDN16	HP:0033786	Hypomature enamel	1/6	OMIM:248250
10686	CLDN16	HP:0006297	Enamel hypoplasia	4/6	OMIM:248250
10686	CLDN16	HP:0000121	Nephrocalcinosis	59/59	OMIM:248250
10686	CLDN16	HP:0000103	Polyuria	36/41	OMIM:248250
10686	CLDN16	HP:0002748	Rickets	2/24	OMIM:248250
10686	CLDN16	HP:0002027	Abdominal pain	9/25	OMIM:248250
10686	CLDN16	HP:0002013	Vomiting	8/24	OMIM:248250
10686	CLDN16	HP:0100586	Sterile pyuria	14/24	OMIM:248250
10686	CLDN16	HP:0002150	Hypercalciuria	54/58	OMIM:248250
10686	CLDN16	HP:0002149	Hyperuricemia	3/3	OMIM:248250
10686	CLDN16	HP:0002199	Hypocalcemic seizures	3/5	OMIM:248250
10686	CLDN16	HP:0003593	Infantile onset	19/33	OMIM:248250
10686	CLDN16	HP:0008341	Distal renal tubular acidosis	6/7	OMIM:248250
10686	CLDN16	HP:0003621	Juvenile onset	11/40	OMIM:248250
10686	CLDN16	HP:0005567	Renal magnesium wasting	41/41	OMIM:248250
10686	CLDN16	HP:0012622	Chronic kidney disease	-	OMIM:248250
10686	CLDN16	HP:0000639	Nystagmus	0/5	OMIM:248250
10686	CLDN16	HP:0012608	Hypermagnesiuria	43/45	OMIM:248250
10686	CLDN16	HP:0001941	Acidosis	1/2	OMIM:248250
10686	CLDN16	HP:0001959	Polydipsia	35/40	OMIM:248250
10686	CLDN16	HP:0010049	Short metacarpal	1/1	OMIM:248250
10686	CLDN16	HP:0012637	Renal calcium wasting	2/2	OMIM:248250
10686	CLDN16	HP:0004322	Short stature	1/3	OMIM:248250
10686	CLDN16	HP:0004363	Abnormal circulating calcium concentration	0/11	OMIM:248250
10686	CLDN16	HP:0000705	Amelogenesis imperfecta	5/6	OMIM:248250
10686	CLDN16	HP:0011463	Childhood onset	11/37	OMIM:248250
10686	CLDN16	HP:0011462	Young adult onset	5/12	OMIM:248250
10686	CLDN16	HP:0000790	Hematuria	-	OMIM:248250
10686	CLDN16	HP:0000787	Nephrolithiasis	9/32	OMIM:248250
10686	CLDN16	HP:0003158	Hyposthenuria	1/1	OMIM:248250
10686	CLDN16	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/2	OMIM:248250
10686	CLDN16	HP:0003149	Hyperuricosuria	13/24	OMIM:248250
10686	CLDN16	HP:0003165	Elevated circulating parathyroid hormone level	36/39	OMIM:248250
10686	CLDN16	HP:0000822	Hypertension	2/3	OMIM:248250
10686	CLDN16	HP:0003259	Elevated circulating creatinine concentration	6/6	OMIM:248250
10686	CLDN16	HP:0002857	Genu valgum	1/1	OMIM:248250
10686	CLDN16	HP:0001508	Failure to thrive	18/35	OMIM:248250
10686	CLDN16	HP:0002917	Hypomagnesemia	33/34	OMIM:248250
10686	CLDN16	HP:0002907	Microscopic hematuria	6/25	OMIM:248250
10686	CLDN16	HP:0002905	Hyperphosphatemia	3/5	OMIM:248250
10686	CLDN16	HP:0002901	Hypocalcemia	8/13	OMIM:248250
10686	CLDN16	HP:0031425	Increased circulating beta-C-terminal telopeptide concentration	2/2	OMIM:248250
10686	CLDN16	HP:0002979	Bowing of the legs	1/1	OMIM:248250
10686	CLDN16	HP:0000483	Astigmatism	2/17	OMIM:248250
10686	CLDN16	HP:0000486	Strabismus	1/17	OMIM:248250
10686	CLDN16	HP:0012405	Hypocitraturia	19/29	OMIM:248250
10686	CLDN16	HP:0012406	Hypercitraturia	9/9	OMIM:248250
10686	CLDN16	HP:0012587	Macroscopic hematuria	4/5	OMIM:248250
10686	CLDN16	HP:0000540	Hypermetropia	0/5	OMIM:248250
10686	CLDN16	HP:0000545	Myopia	1/5	OMIM:248250
10695	CNPY3	HP:0010851	EEG with burst suppression	1/3	OMIM:617929
10695	CNPY3	HP:0001250	Seizure	3/3	OMIM:617929
10695	CNPY3	HP:0001263	Global developmental delay	3/3	OMIM:617929
10695	CNPY3	HP:0002540	Inability to walk	3/3	OMIM:617929
10695	CNPY3	HP:0002521	Hypsarrhythmia	HP:0040281	ORPHA:697160
10695	CNPY3	HP:0002521	Hypsarrhythmia	3/3	OMIM:617929
10695	CNPY3	HP:0002510	Spastic tetraplegia	2/3	OMIM:617929
10695	CNPY3	HP:0000007	Autosomal recessive inheritance	-	OMIM:617929
10695	CNPY3	HP:0001336	Myoclonus	HP:0040281	ORPHA:697160
10695	CNPY3	HP:0002187	Intellectual disability, profound	3/3	OMIM:617929
10695	CNPY3	HP:0003593	Infantile onset	3/3	OMIM:617929
10695	CNPY3	HP:0200134	Epileptic encephalopathy	3/3	OMIM:617929
10695	CNPY3	HP:0002283	Global brain atrophy	3/3	OMIM:617929
10695	CNPY3	HP:0002384	Focal impaired awareness seizure	2/3	OMIM:617929
10695	CNPY3	HP:0002376	Developmental regression	HP:0040281	ORPHA:697160
10695	CNPY3	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:697160
10695	CNPY3	HP:0034396	Hippocampal malrotation	3/3	OMIM:617929
10695	CNPY3	HP:0011097	Epileptic spasm	3/3	OMIM:617929
10695	CNPY3	HP:0032792	Tonic seizure	1/3	OMIM:617929
10695	CNPY3	HP:0032794	Myoclonic seizure	2/3	OMIM:617929
10695	CNPY3	HP:0012469	Infantile spasms	HP:0040281	ORPHA:697160
10695	CNPY3	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:697160
10699	CORIN	HP:0033534	Increased circulating brain natriuretic peptide concentration	1/1	OMIM:620734
10699	CORIN	HP:6000693	Reduced circulating NT-proANP concentration	1/1	OMIM:620734
10699	CORIN	HP:6000691	Left atrial fibrosis	2/2	OMIM:620734
10699	CORIN	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:275555
10699	CORIN	HP:0000093	Proteinuria	HP:0040281	ORPHA:275555
10699	CORIN	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:275555
10699	CORIN	HP:0000007	Autosomal recessive inheritance	-	OMIM:620734
10699	CORIN	HP:0000006	Autosomal dominant inheritance	-	OMIM:614595
10699	CORIN	HP:0000147	Polycystic ovaries	HP:0040284	ORPHA:275555
10699	CORIN	HP:0410019	Epigastric pain	HP:0040282	ORPHA:275555
10699	CORIN	HP:0031295	Left atrial enlargement	2/2	OMIM:620734
10699	CORIN	HP:0002027	Abdominal pain	HP:0040283	ORPHA:275555
10699	CORIN	HP:0100598	Pulmonary edema	HP:0040282	ORPHA:275555
10699	CORIN	HP:0004749	Atrial flutter	1/2	OMIM:620734
10699	CORIN	HP:0003596	Middle age onset	2/2	OMIM:620734
10699	CORIN	HP:0003581	Adult onset	-	OMIM:614595
10699	CORIN	HP:0100767	Abnormal placenta morphology	HP:0040281	ORPHA:275555
10699	CORIN	HP:0002360	Sleep abnormality	HP:0040284	ORPHA:275555
10699	CORIN	HP:0002315	Headache	HP:0040283	ORPHA:275555
10699	CORIN	HP:0100651	Type I diabetes mellitus	HP:0040284	ORPHA:275555
10699	CORIN	HP:0100602	Preeclampsia	-	OMIM:614595
10699	CORIN	HP:0012622	Chronic kidney disease	HP:0040284	ORPHA:275555
10699	CORIN	HP:0001919	Acute kidney injury	HP:0040284	ORPHA:275555
10699	CORIN	HP:0012664	Reduced left ventricular ejection fraction	0/2	OMIM:620734
10699	CORIN	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:275555
10699	CORIN	HP:0004421	Elevated systolic blood pressure	HP:0040281	ORPHA:275555
10699	CORIN	HP:0000822	Hypertension	2/2	OMIM:620734
10699	CORIN	HP:0000822	Hypertension	HP:0040281	ORPHA:275555
10699	CORIN	HP:0003259	Elevated circulating creatinine concentration	HP:0040284	ORPHA:275555
10699	CORIN	HP:0031418	Increased body mass index	HP:0040283	ORPHA:275555
10699	CORIN	HP:0005117	Elevated diastolic blood pressure	HP:0040281	ORPHA:275555
10699	CORIN	HP:0005110	Atrial fibrillation	1/2	OMIM:620734
10699	CORIN	HP:0001518	Small for gestational age	HP:0040283	ORPHA:275555
10699	CORIN	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:275555
10699	CORIN	HP:0005202	Helicobacter pylori infection	HP:0040284	ORPHA:275555
10699	CORIN	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:275555
10699	CORIN	HP:0002960	Autoimmunity	HP:0040284	ORPHA:275555
10699	CORIN	HP:0006707	Abnormality of the hepatic vasculature	HP:0040283	ORPHA:275555
10699	CORIN	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:275555
10699	CORIN	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:275555
10714	POLD3	HP:0410243	Abnormal circulating IgM concentration	0/2	OMIM:620869
10714	POLD3	HP:0001270	Motor delay	1/2	OMIM:620869
10714	POLD3	HP:0001263	Global developmental delay	2/2	OMIM:620869
10714	POLD3	HP:0410378	Decreased naive CD4-positive T cell proportion	2/2	OMIM:620869
10714	POLD3	HP:0410377	Decreased naive CD8 T cell proportion	2/2	OMIM:620869
10714	POLD3	HP:0010975	Abnormal B cell count	0/1	OMIM:620869
10714	POLD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:620869
10714	POLD3	HP:0500093	Food allergy	1/1	OMIM:620869
10714	POLD3	HP:0006297	Enamel hypoplasia	1/2	OMIM:620869
10714	POLD3	HP:0002783	Recurrent lower respiratory tract infections	1/2	OMIM:620869
10714	POLD3	HP:0002788	Recurrent upper respiratory tract infections	2/2	OMIM:620869
10714	POLD3	HP:0002718	Recurrent bacterial infections	1/1	OMIM:620869
10714	POLD3	HP:0002716	Lymphadenopathy	1/1	OMIM:620869
10714	POLD3	HP:0002007	Frontal bossing	1/2	OMIM:620869
10714	POLD3	HP:0002110	Bronchiectasis	1/2	OMIM:620869
10714	POLD3	HP:0003593	Infantile onset	2/2	OMIM:620869
10714	POLD3	HP:0002240	Hepatomegaly	1/1	OMIM:620869
10714	POLD3	HP:0008404	Nail dystrophy	1/2	OMIM:620869
10714	POLD3	HP:0011968	Feeding difficulties	1/2	OMIM:620869
10714	POLD3	HP:0001019	Erythroderma	1/1	OMIM:620869
10714	POLD3	HP:0032126	Decreased unswitched memory B cell proportion	1/1	OMIM:620869
10714	POLD3	HP:0001999	Abnormal facial shape	1/2	OMIM:620869
10714	POLD3	HP:0004315	Decreased circulating IgG concentration	1/2	OMIM:620869
10714	POLD3	HP:0004430	Severe combined immunodeficiency	2/2	OMIM:620869
10714	POLD3	HP:0004429	Recurrent viral infections	1/1	OMIM:620869
10714	POLD3	HP:0003212	Increased circulating IgE concentration	1/1	OMIM:620869
10714	POLD3	HP:0040218	Reduced total natural killer cell count	1/2	OMIM:620869
10714	POLD3	HP:0000958	Dry skin	1/1	OMIM:620869
10714	POLD3	HP:0001596	Alopecia	1/1	OMIM:620869
10714	POLD3	HP:0031430	Oligoclonal T cell expansion	1/1	OMIM:620869
10714	POLD3	HP:0005359	Aplasia of the thymus	1/1	OMIM:620869
10714	POLD3	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:620869
10714	POLD3	HP:0001744	Splenomegaly	2/2	OMIM:620869
10714	POLD3	HP:0005403	Decreased total T cell count	1/2	OMIM:620869
10714	POLD3	HP:0001880	Increased total eosinophil count	1/2	OMIM:620869
10715	CERS1	HP:0010852	EEG with photoparoxysmal response	2/4	OMIM:616230
10715	CERS1	HP:0001272	Cerebellar atrophy	4/4	OMIM:616230
10715	CERS1	HP:0001288	Gait disturbance	1/1	OMIM:616230
10715	CERS1	HP:0001249	Intellectual disability	-	OMIM:616230
10715	CERS1	HP:0001266	Choreoathetosis	1/1	OMIM:616230
10715	CERS1	HP:0001260	Dysarthria	1/1	OMIM:616230
10715	CERS1	HP:0001263	Global developmental delay	5/5	OMIM:616230
10715	CERS1	HP:0007366	Atrophy/Degeneration affecting the brainstem	5/5	OMIM:616230
10715	CERS1	HP:0002527	Falls	1/1	OMIM:616230
10715	CERS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616230
10715	CERS1	HP:0001336	Myoclonus	5/5	OMIM:616230
10715	CERS1	HP:0002069	Bilateral tonic-clonic seizure	5/5	OMIM:616230
10715	CERS1	HP:0002078	Truncal ataxia	1/1	OMIM:616230
10715	CERS1	HP:0002070	Limb ataxia	1/1	OMIM:616230
10715	CERS1	HP:0003593	Infantile onset	1/1	OMIM:616230
10715	CERS1	HP:0002344	Progressive neurologic deterioration	4/4	OMIM:616230
10715	CERS1	HP:0003676	Progressive	-	OMIM:616230
10715	CERS1	HP:0000639	Nystagmus	1/1	OMIM:616230
10715	CERS1	HP:0000750	Delayed speech and language development	1/1	OMIM:616230
10715	CERS1	HP:0000726	Dementia	4/4	OMIM:616230
10715	CERS1	HP:0034360	Action myoclonus	5/5	OMIM:616230
10716	TBR1	HP:0001188	Hand clenching	HP:0040281	ORPHA:1617
10716	TBR1	HP:0010864	Intellectual disability, severe	2/2	OMIM:606053
10716	TBR1	HP:0001290	Generalized hypotonia	-	OMIM:606053
10716	TBR1	HP:0100807	Long fingers	HP:0040281	ORPHA:1617
10716	TBR1	HP:0001250	Seizure	HP:0040281	ORPHA:1617
10716	TBR1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1617
10716	TBR1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1617
10716	TBR1	HP:0001263	Global developmental delay	-	OMIM:606053
10716	TBR1	HP:0002540	Inability to walk	-	OMIM:606053
10716	TBR1	HP:0001382	Joint hypermobility	HP:0040284	OMIM:606053
10716	TBR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:606053
10716	TBR1	HP:0001302	Pachygyria	HP:0040284	OMIM:606053
10716	TBR1	HP:0001319	Neonatal hypotonia	HP:0040281	ORPHA:1617
10716	TBR1	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:1617
10716	TBR1	HP:0000175	Cleft palate	HP:0040281	ORPHA:1617
10716	TBR1	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1617
10716	TBR1	HP:0003593	Infantile onset	-	OMIM:606053
10716	TBR1	HP:0010078	Bullet-shaped distal phalanx of the hallux	HP:0040281	ORPHA:1617
10716	TBR1	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:1617
10716	TBR1	HP:0031936	Delayed ability to walk	-	OMIM:606053
10716	TBR1	HP:0000733	Motor stereotypy	-	OMIM:606053
10716	TBR1	HP:0000750	Delayed speech and language development	-	OMIM:606053
10716	TBR1	HP:0000717	Autism	-	OMIM:606053
10716	TBR1	HP:0000729	Autistic behavior	HP:0040282	ORPHA:1617
10716	TBR1	HP:0000708	Atypical behavior	HP:0040281	ORPHA:1617
10716	TBR1	HP:0012760	Reduced social responsiveness	-	OMIM:606053
10716	TBR1	HP:0000274	Small face	HP:0040282	ORPHA:1617
10716	TBR1	HP:0002871	Central apnea	HP:0040283	ORPHA:1617
10716	TBR1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:1617
10716	TBR1	HP:0001518	Small for gestational age	HP:0040281	ORPHA:1617
10716	TBR1	HP:0001510	Growth delay	HP:0040281	ORPHA:1617
10716	TBR1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:1617
10716	TBR1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:1617
10716	TBR1	HP:0000322	Short philtrum	HP:0040282	ORPHA:1617
10716	TBR1	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:1617
10716	TBR1	HP:0000470	Short neck	HP:0040281	ORPHA:1617
10716	TBR1	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:1617
10716	TBR1	HP:0000518	Cataract	HP:0040282	ORPHA:1617
10716	TBR1	HP:0000525	Abnormality iris morphology	HP:0040281	ORPHA:1617
10716	TBR1	HP:0000589	Coloboma	HP:0040282	ORPHA:1617
10716	TBR1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:1617
10717	AP4B1	HP:0002465	Poor speech	HP:0040282	ORPHA:280763
10717	AP4B1	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:280763
10717	AP4B1	HP:0100962	Excessive shyness	HP:0040283	ORPHA:280763
10717	AP4B1	HP:0100962	Excessive shyness	2/3	OMIM:614066
10717	AP4B1	HP:0010864	Intellectual disability, severe	3/3	OMIM:614066
10717	AP4B1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:280763
10717	AP4B1	HP:0001276	Hypertonia	3/3	OMIM:614066
10717	AP4B1	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:280763
10717	AP4B1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:280763
10717	AP4B1	HP:0001250	Seizure	HP:0040283	ORPHA:280763
10717	AP4B1	HP:0001250	Seizure	-	OMIM:614066
10717	AP4B1	HP:0001252	Hypotonia	HP:0040281	ORPHA:280763
10717	AP4B1	HP:0001260	Dysarthria	-	OMIM:614066
10717	AP4B1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:280763
10717	AP4B1	HP:0001263	Global developmental delay	-	OMIM:614066
10717	AP4B1	HP:0001258	Spastic paraplegia	-	OMIM:614066
10717	AP4B1	HP:0001257	Spasticity	3/3	OMIM:614066
10717	AP4B1	HP:0001257	Spasticity	HP:0040282	ORPHA:280763
10717	AP4B1	HP:0002540	Inability to walk	2/3	OMIM:614066
10717	AP4B1	HP:0002518	Abnormal periventricular white matter morphology	-	OMIM:614066
10717	AP4B1	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:280763
10717	AP4B1	HP:0002515	Waddling gait	-	OMIM:614066
10717	AP4B1	HP:0002515	Waddling gait	HP:0040282	ORPHA:280763
10717	AP4B1	HP:0008807	Acetabular dysplasia	HP:0040284	ORPHA:280763
10717	AP4B1	HP:0008807	Acetabular dysplasia	-	OMIM:614066
10717	AP4B1	HP:0001371	Flexion contracture	-	OMIM:614066
10717	AP4B1	HP:0001347	Hyperreflexia	3/3	OMIM:614066
10717	AP4B1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:280763
10717	AP4B1	HP:0001332	Dystonia	-	OMIM:614066
10717	AP4B1	HP:0001332	Dystonia	HP:0040282	ORPHA:280763
10717	AP4B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614066
10717	AP4B1	HP:0001319	Neonatal hypotonia	3/3	OMIM:614066
10717	AP4B1	HP:0000154	Wide mouth	-	OMIM:614066
10717	AP4B1	HP:0000154	Wide mouth	HP:0040283	ORPHA:280763
10717	AP4B1	HP:0002761	Generalized joint hypermobility	HP:0040284	ORPHA:280763
10717	AP4B1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:614066
10717	AP4B1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:280763
10717	AP4B1	HP:0003487	Babinski sign	2/3	OMIM:614066
10717	AP4B1	HP:0003487	Babinski sign	HP:0040282	ORPHA:280763
10717	AP4B1	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:280763
10717	AP4B1	HP:0002119	Ventriculomegaly	-	OMIM:614066
10717	AP4B1	HP:0003577	Congenital onset	-	OMIM:614066
10717	AP4B1	HP:0007020	Progressive spastic paraplegia	HP:0040281	ORPHA:280763
10717	AP4B1	HP:0003677	Slowly progressive	-	OMIM:614066
10717	AP4B1	HP:0010803	Everted upper lip vermilion	HP:0040283	ORPHA:280763
10717	AP4B1	HP:0002307	Drooling	1/3	OMIM:614066
10717	AP4B1	HP:0002307	Drooling	HP:0040282	ORPHA:280763
10717	AP4B1	HP:0000646	Amblyopia	HP:0040284	ORPHA:280763
10717	AP4B1	HP:0004322	Short stature	HP:0040282	ORPHA:280763
10717	AP4B1	HP:0004322	Short stature	HP:0040283	OMIM:614066
10717	AP4B1	HP:0031936	Delayed ability to walk	3/3	OMIM:614066
10717	AP4B1	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:280763
10717	AP4B1	HP:0000750	Delayed speech and language development	-	OMIM:614066
10717	AP4B1	HP:0000280	Coarse facial features	-	OMIM:614066
10717	AP4B1	HP:0000280	Coarse facial features	HP:0040282	ORPHA:280763
10717	AP4B1	HP:0000297	Facial hypotonia	HP:0040282	ORPHA:280763
10717	AP4B1	HP:0002816	Genu recurvatum	HP:0040284	ORPHA:280763
10717	AP4B1	HP:0002816	Genu recurvatum	HP:0040283	OMIM:614066
10717	AP4B1	HP:0000252	Microcephaly	HP:0040281	ORPHA:280763
10717	AP4B1	HP:0000252	Microcephaly	3/3	OMIM:614066
10717	AP4B1	HP:0000218	High palate	HP:0040283	OMIM:614066
10717	AP4B1	HP:0000218	High palate	HP:0040283	ORPHA:280763
10717	AP4B1	HP:0025502	Overweight	HP:0040283	ORPHA:280763
10717	AP4B1	HP:0025502	Overweight	2/3	OMIM:614066
10717	AP4B1	HP:0000341	Narrow forehead	-	OMIM:614066
10717	AP4B1	HP:0000341	Narrow forehead	HP:0040283	ORPHA:280763
10717	AP4B1	HP:0000322	Short philtrum	-	OMIM:614066
10717	AP4B1	HP:0000322	Short philtrum	HP:0040283	ORPHA:280763
10717	AP4B1	HP:0000486	Strabismus	HP:0040284	ORPHA:280763
10717	AP4B1	HP:0001763	Pes planus	HP:0040283	OMIM:614066
10717	AP4B1	HP:0001763	Pes planus	HP:0040283	ORPHA:280763
10717	AP4B1	HP:0000414	Bulbous nose	-	OMIM:614066
10717	AP4B1	HP:0000414	Bulbous nose	HP:0040282	ORPHA:280763
10717	AP4B1	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:614066
10717	AP4B1	HP:0000431	Wide nasal bridge	HP:0040283	OMIM:614066
10730	YME1L1	HP:0002487	Hyperkinetic movements	1/4	OMIM:617302
10730	YME1L1	HP:0002465	Poor speech	1/3	OMIM:617302
10730	YME1L1	HP:0002474	Expressive language delay	4/4	OMIM:617302
10730	YME1L1	HP:0001270	Motor delay	4/4	OMIM:617302
10730	YME1L1	HP:0001250	Seizure	1/4	OMIM:617302
10730	YME1L1	HP:0001252	Hypotonia	1/4	OMIM:617302
10730	YME1L1	HP:0001251	Ataxia	3/4	OMIM:617302
10730	YME1L1	HP:0001249	Intellectual disability	2/2	OMIM:617302
10730	YME1L1	HP:0001263	Global developmental delay	4/4	OMIM:617302
10730	YME1L1	HP:0033685	Fiber type grouping	1/1	OMIM:617302
10730	YME1L1	HP:0002546	Incomprehensible speech	1/3	OMIM:617302
10730	YME1L1	HP:0001349	Facial diplegia	2/4	OMIM:617302
10730	YME1L1	HP:0001344	Absent speech	1/4	OMIM:617302
10730	YME1L1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617302
10730	YME1L1	HP:0001310	Dysmetria	3/4	OMIM:617302
10730	YME1L1	HP:0001321	Cerebellar hypoplasia	2/4	OMIM:617302
10730	YME1L1	HP:0012172	Stereotypical body rocking	1/4	OMIM:617302
10730	YME1L1	HP:0002019	Constipation	3/4	OMIM:617302
10730	YME1L1	HP:0011800	Midface retrusion	2/4	OMIM:617302
10730	YME1L1	HP:0008180	Mildly elevated creatine kinase	1/4	OMIM:617302
10730	YME1L1	HP:0002151	Increased circulating lactate concentration	3/4	OMIM:617302
10730	YME1L1	HP:0002119	Ventriculomegaly	1/4	OMIM:617302
10730	YME1L1	HP:0003448	Decreased sensory nerve conduction velocity	1/3	OMIM:617302
10730	YME1L1	HP:0002188	Delayed CNS myelination	1/4	OMIM:617302
10730	YME1L1	HP:0010521	Gait apraxia	1/4	OMIM:617302
10730	YME1L1	HP:0003593	Infantile onset	4/4	OMIM:617302
10730	YME1L1	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:617302
10730	YME1L1	HP:0010729	Cherry red spot of the macula	1/4	OMIM:617302
10730	YME1L1	HP:0007018	Attention deficit hyperactivity disorder	1/4	OMIM:617302
10730	YME1L1	HP:0002352	Leukoencephalopathy	4/4	OMIM:617302
10730	YME1L1	HP:0002305	Athetosis	1/4	OMIM:617302
10730	YME1L1	HP:0000646	Amblyopia	3/4	OMIM:617302
10730	YME1L1	HP:0000648	Optic atrophy	4/4	OMIM:617302
10730	YME1L1	HP:0000609	Optic nerve hypoplasia	4/4	OMIM:617302
10730	YME1L1	HP:0004322	Short stature	3/4	OMIM:617302
10730	YME1L1	HP:0000752	Hyperactivity	1/4	OMIM:617302
10730	YME1L1	HP:0000256	Macrocephaly	1/4	OMIM:617302
10730	YME1L1	HP:0000252	Microcephaly	2/4	OMIM:617302
10730	YME1L1	HP:0000365	Hearing impairment	3/4	OMIM:617302
10730	YME1L1	HP:0011196	EEG with focal sharp waves	1/3	OMIM:617302
10730	YME1L1	HP:0000400	Macrotia	2/4	OMIM:617302
10730	YME1L1	HP:0000486	Strabismus	2/4	OMIM:617302
10730	YME1L1	HP:0012444	Brain atrophy	1/4	OMIM:617302
10730	YME1L1	HP:0001776	Bilateral talipes equinovarus	1/4	OMIM:617302
10730	YME1L1	HP:0001744	Splenomegaly	2/4	OMIM:617302
10730	YME1L1	HP:0000505	Visual impairment	4/4	OMIM:617302
10730	YME1L1	HP:0000540	Hypermetropia	1/4	OMIM:617302
10730	YME1L1	HP:0000545	Myopia	3/4	OMIM:617302
10733	PLK4	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
10733	PLK4	HP:0009879	Simplified gyral pattern	-	OMIM:616171
10733	PLK4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
10733	PLK4	HP:0001293	Cranial nerve compression	-	OMIM:131300
10733	PLK4	HP:0001276	Hypertonia	HP:0040282	ORPHA:2518
10733	PLK4	HP:0001272	Cerebellar atrophy	-	OMIM:616171
10733	PLK4	HP:0001250	Seizure	1/7	OMIM:616171
10733	PLK4	HP:0001250	Seizure	HP:0040282	ORPHA:2518
10733	PLK4	HP:0001252	Hypotonia	2/7	OMIM:615777
10733	PLK4	HP:0001249	Intellectual disability	7/7	OMIM:616171
10733	PLK4	HP:0001249	Intellectual disability	HP:0040281	ORPHA:808
10733	PLK4	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2518
10733	PLK4	HP:0001249	Intellectual disability	5/7	OMIM:615777
10733	PLK4	HP:0001263	Global developmental delay	-	OMIM:616171
10733	PLK4	HP:0001263	Global developmental delay	-	OMIM:615777
10733	PLK4	HP:0007401	Macular atrophy	HP:0040283	OMIM:616171
10733	PLK4	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:2518
10733	PLK4	HP:0002515	Waddling gait	54/102	OMIM:131300
10733	PLK4	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:808
10733	PLK4	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:808
10733	PLK4	HP:0001382	Joint hypermobility	-	OMIM:615777
10733	PLK4	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:808
10733	PLK4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
10733	PLK4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
10733	PLK4	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:808
10733	PLK4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
10733	PLK4	HP:0001324	Muscle weakness	40/96	OMIM:131300
10733	PLK4	HP:0001344	Absent speech	4/7	OMIM:616171
10733	PLK4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
10733	PLK4	HP:0001338	Partial agenesis of the corpus callosum	2/7	OMIM:616171
10733	PLK4	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
10733	PLK4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
10733	PLK4	HP:0000007	Autosomal recessive inheritance	-	OMIM:616171
10733	PLK4	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
10733	PLK4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
10733	PLK4	HP:0002650	Scoliosis	HP:0040283	ORPHA:808
10733	PLK4	HP:0002650	Scoliosis	HP:0040282	ORPHA:2518
10733	PLK4	HP:0002650	Scoliosis	12/14	OMIM:131300
10733	PLK4	HP:0001321	Cerebellar hypoplasia	2/7	OMIM:616171
10733	PLK4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
10733	PLK4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
10733	PLK4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
10733	PLK4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
10733	PLK4	HP:0000175	Cleft palate	2/7	OMIM:615777
10733	PLK4	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
10733	PLK4	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
10733	PLK4	HP:0012110	Hypoplasia of the pons	2/7	OMIM:616171
10733	PLK4	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:808
10733	PLK4	HP:0004626	Lumbar scoliosis	1/7	OMIM:616171
10733	PLK4	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:808
10733	PLK4	HP:0002059	Cerebral atrophy	-	OMIM:616171
10733	PLK4	HP:0003388	Easy fatigability	36/76	OMIM:131300
10733	PLK4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
10733	PLK4	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:2518
10733	PLK4	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:808
10733	PLK4	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:2518
10733	PLK4	HP:0003577	Congenital onset	-	OMIM:616171
10733	PLK4	HP:0100702	Arachnoid cyst	2/7	OMIM:616171
10733	PLK4	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:808
10733	PLK4	HP:0003510	Severe short stature	7/7	OMIM:615777
10733	PLK4	HP:0002315	Headache	-	OMIM:131300
10733	PLK4	HP:0004976	Knee dislocation	6/7	OMIM:615777
10733	PLK4	HP:0009804	Tooth agenesis	HP:0040282	ORPHA:808
10733	PLK4	HP:0009803	Short phalanx of finger	-	OMIM:615777
10733	PLK4	HP:0007165	Periventricular heterotopia	1/7	OMIM:616171
10733	PLK4	HP:0009763	Limb pain	63/92	OMIM:131300
10733	PLK4	HP:0003621	Juvenile onset	8/19	OMIM:180100
10733	PLK4	HP:0003621	Juvenile onset	-	OMIM:131300
10733	PLK4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
10733	PLK4	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:808
10733	PLK4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
10733	PLK4	HP:0000639	Nystagmus	HP:0040282	ORPHA:2518
10733	PLK4	HP:6001056	Out-toeing	-	OMIM:131300
10733	PLK4	HP:0000651	Diplopia	-	OMIM:131300
10733	PLK4	HP:0000648	Optic atrophy	HP:0040283	OMIM:616171
10733	PLK4	HP:0000648	Optic atrophy	HP:0040282	ORPHA:2518
10733	PLK4	HP:0001956	Truncal obesity	2/7	OMIM:615777
10733	PLK4	HP:0001903	Anemia	HP:0040283	OMIM:131300
10733	PLK4	HP:0010049	Short metacarpal	-	OMIM:615777
10733	PLK4	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:808
10733	PLK4	HP:0011342	Mild global developmental delay	HP:0040281	ORPHA:808
10733	PLK4	HP:0000678	Dental crowding	-	OMIM:615777
10733	PLK4	HP:0000662	Nyctalopia	26/28	OMIM:180100
10733	PLK4	HP:0000670	Carious teeth	-	OMIM:131300
10733	PLK4	HP:0011304	Broad thumb	2/7	OMIM:615777
10733	PLK4	HP:0000668	Hypodontia	-	OMIM:615777
10733	PLK4	HP:0000664	Synophrys	-	OMIM:615777
10733	PLK4	HP:0004322	Short stature	6/6	OMIM:616171
10733	PLK4	HP:0004322	Short stature	HP:0040281	ORPHA:808
10733	PLK4	HP:0004322	Short stature	HP:0040282	ORPHA:2518
10733	PLK4	HP:0004326	Cachexia	HP:0040281	ORPHA:808
10733	PLK4	HP:0004396	Poor appetite	-	OMIM:131300
10733	PLK4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
10733	PLK4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
10733	PLK4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
10733	PLK4	HP:0003026	Short long bone	7/7	OMIM:615777
10733	PLK4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
10733	PLK4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
10733	PLK4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
10733	PLK4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
10733	PLK4	HP:0000750	Delayed speech and language development	-	OMIM:615777
10733	PLK4	HP:0011463	Childhood onset	3/19	OMIM:180100
10733	PLK4	HP:0011462	Young adult onset	8/19	OMIM:180100
10733	PLK4	HP:0011461	Fetal onset	7/7	OMIM:615777
10733	PLK4	HP:0000774	Narrow chest	2/7	OMIM:615777
10733	PLK4	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2518
10733	PLK4	HP:0000926	Platyspondyly	1/7	OMIM:615777
10733	PLK4	HP:0003180	Flat acetabular roof	-	OMIM:615777
10733	PLK4	HP:0004482	Relative macrocephaly	-	OMIM:615777
10733	PLK4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
10733	PLK4	HP:0000823	Delayed puberty	-	OMIM:131300
10733	PLK4	HP:0000894	Short clavicles	-	OMIM:615777
10733	PLK4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
10733	PLK4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
10733	PLK4	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:2518
10733	PLK4	HP:0000286	Epicanthus	1/7	OMIM:615777
10733	PLK4	HP:0000280	Coarse facial features	2/7	OMIM:615777
10733	PLK4	HP:0000275	Narrow face	HP:0040281	ORPHA:808
10733	PLK4	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
10733	PLK4	HP:0002827	Hip dislocation	3/7	OMIM:615777
10733	PLK4	HP:0000252	Microcephaly	7/7	OMIM:616171
10733	PLK4	HP:0000252	Microcephaly	HP:0040281	ORPHA:808
10733	PLK4	HP:0000252	Microcephaly	HP:0040281	ORPHA:2518
10733	PLK4	HP:0000252	Microcephaly	-	OMIM:615777
10733	PLK4	HP:0002857	Genu valgum	-	OMIM:131300
10733	PLK4	HP:0001533	Slender build	-	OMIM:131300
10733	PLK4	HP:0001511	Intrauterine growth retardation	1/7	OMIM:616171
10733	PLK4	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:808
10733	PLK4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
10733	PLK4	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2518
10733	PLK4	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
10733	PLK4	HP:0007807	Optic nerve compression	-	OMIM:131300
10733	PLK4	HP:0000387	Absent earlobe	HP:0040282	ORPHA:808
10733	PLK4	HP:0012368	Flat face	7/7	OMIM:615777
10733	PLK4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
10733	PLK4	HP:0002943	Thoracic scoliosis	1/7	OMIM:616171
10733	PLK4	HP:0000363	Abnormal earlobe morphology	HP:0040282	ORPHA:808
10733	PLK4	HP:0000365	Hearing impairment	10/67	OMIM:131300
10733	PLK4	HP:0000340	Sloping forehead	-	OMIM:616171
10733	PLK4	HP:0000340	Sloping forehead	HP:0040282	ORPHA:2518
10733	PLK4	HP:0000343	Long philtrum	1/7	OMIM:615777
10733	PLK4	HP:0011001	Increased bone mineral density	-	OMIM:131300
10733	PLK4	HP:0000347	Micrognathia	2/7	OMIM:616171
10733	PLK4	HP:0000347	Micrognathia	HP:0040281	ORPHA:808
10733	PLK4	HP:0000311	Round face	2/7	OMIM:615777
10733	PLK4	HP:0002970	Genu varum	-	OMIM:615777
10733	PLK4	HP:0000307	Pointed chin	HP:0040282	ORPHA:2518
10733	PLK4	HP:0000303	Mandibular prognathia	-	OMIM:131300
10733	PLK4	HP:0000499	Abnormal eyelash morphology	HP:0040282	ORPHA:2518
10733	PLK4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
10733	PLK4	HP:0000486	Strabismus	HP:0040282	ORPHA:2518
10733	PLK4	HP:0000482	Microcornea	2/7	OMIM:616171
10733	PLK4	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:808
10733	PLK4	HP:0000488	Retinopathy	HP:0040283	OMIM:616171
10733	PLK4	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2518
10733	PLK4	HP:0000470	Short neck	1/7	OMIM:615777
10733	PLK4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
10733	PLK4	HP:0001763	Pes planus	1/7	OMIM:615777
10733	PLK4	HP:0000448	Prominent nose	HP:0040283	OMIM:616171
10733	PLK4	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:808
10733	PLK4	HP:0000411	Protruding ear	HP:0040282	ORPHA:2518
10733	PLK4	HP:0001762	Talipes equinovarus	1/7	OMIM:616171
10733	PLK4	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:2518
10733	PLK4	HP:0000518	Cataract	2/7	OMIM:616171
10733	PLK4	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
10733	PLK4	HP:0001840	Metatarsus adductus	-	OMIM:615777
10733	PLK4	HP:0001852	Sandal gap	HP:0040281	ORPHA:808
10733	PLK4	HP:0000520	Proptosis	2/4	OMIM:131300
10733	PLK4	HP:0000520	Proptosis	HP:0040283	OMIM:616171
10733	PLK4	HP:0000520	Proptosis	7/7	OMIM:615777
10733	PLK4	HP:0000505	Visual impairment	-	OMIM:616171
10733	PLK4	HP:0000505	Visual impairment	HP:0040282	ORPHA:2518
10733	PLK4	HP:0000501	Glaucoma	HP:0040282	ORPHA:808
10733	PLK4	HP:0000575	Scotoma	5/18	OMIM:180100
10733	PLK4	HP:0000592	Blue sclerae	2/7	OMIM:615777
10733	PLK4	HP:0000568	Microphthalmia	-	OMIM:616171
10733	PLK4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
10733	PLK4	HP:0012514	Lower limb pain	4/4	OMIM:131300
10733	PLK4	HP:0000543	Optic disc pallor	HP:0040283	OMIM:616171
10733	PLK4	HP:0000543	Optic disc pallor	1/1	OMIM:180100
10733	PLK4	HP:0000545	Myopia	-	OMIM:180100
10734	STAG3	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
10734	STAG3	HP:0031039	Spermatocyte maturation arrest	3/3	OMIM:619672
10734	STAG3	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
10734	STAG3	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
10734	STAG3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619672
10734	STAG3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615723
10734	STAG3	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
10734	STAG3	HP:0010464	Streak ovary	5/5	OMIM:615723
10734	STAG3	HP:0008232	Elevated circulating follicle stimulating hormone level	5/5	OMIM:615723
10734	STAG3	HP:0008209	Premature ovarian insufficiency	5/5	OMIM:615723
10734	STAG3	HP:0008214	Decreased serum estradiol	5/5	OMIM:615723
10734	STAG3	HP:0011969	Elevated circulating luteinizing hormone level	5/5	OMIM:615723
10734	STAG3	HP:0011961	Non-obstructive azoospermia	3/3	OMIM:619672
10734	STAG3	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
10734	STAG3	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
10734	STAG3	HP:0100615	Ovarian neoplasm	1/5	OMIM:615723
10734	STAG3	HP:0011462	Young adult onset	5/5	OMIM:615723
10734	STAG3	HP:0000786	Primary amenorrhea	4/5	OMIM:615723
10734	STAG3	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
10734	STAG3	HP:0003251	Male infertility	3/3	OMIM:619672
10735	STAG2	HP:0002465	Poor speech	HP:0040283	ORPHA:93925
10735	STAG2	HP:0002465	Poor speech	HP:0040283	ORPHA:220386
10735	STAG2	HP:0002474	Expressive language delay	1/1	OMIM:301022
10735	STAG2	HP:0002451	Limb dystonia	HP:0040282	ORPHA:220386
10735	STAG2	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93925
10735	STAG2	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:220386
10735	STAG2	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93925
10735	STAG2	HP:0009927	Aplasia of the nose	1/12	OMIM:301043
10735	STAG2	HP:0009932	Single naris	HP:0040283	ORPHA:220386
10735	STAG2	HP:0009932	Single naris	HP:0040283	ORPHA:93925
10735	STAG2	HP:0009914	Cyclopia	1/12	OMIM:301043
10735	STAG2	HP:0009914	Cyclopia	HP:0040283	ORPHA:220386
10735	STAG2	HP:0009914	Cyclopia	HP:0040283	ORPHA:93925
10735	STAG2	HP:0009890	High anterior hairline	-	OMIM:301022
10735	STAG2	HP:0008551	Microtia	2/12	OMIM:301043
10735	STAG2	HP:0008551	Microtia	1/1	OMIM:301022
10735	STAG2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:521258
10735	STAG2	HP:0001290	Generalized hypotonia	-	OMIM:301022
10735	STAG2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93925
10735	STAG2	HP:0001274	Agenesis of corpus callosum	1/12	OMIM:301043
10735	STAG2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220386
10735	STAG2	HP:0001254	Lethargy	HP:0040282	ORPHA:93925
10735	STAG2	HP:0001254	Lethargy	HP:0040282	ORPHA:220386
10735	STAG2	HP:0001250	Seizure	HP:0040282	ORPHA:521258
10735	STAG2	HP:0001250	Seizure	HP:0040282	ORPHA:220386
10735	STAG2	HP:0001250	Seizure	HP:0040282	ORPHA:93925
10735	STAG2	HP:0001250	Seizure	3/12	OMIM:301043
10735	STAG2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:220386
10735	STAG2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93925
10735	STAG2	HP:0001249	Intellectual disability	-	OMIM:301043
10735	STAG2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:521258
10735	STAG2	HP:0001263	Global developmental delay	-	OMIM:301043
10735	STAG2	HP:0001263	Global developmental delay	-	OMIM:301022
10735	STAG2	HP:0001257	Spasticity	HP:0040282	ORPHA:93925
10735	STAG2	HP:0001257	Spasticity	HP:0040282	ORPHA:220386
10735	STAG2	HP:0100842	Septo-optic dysplasia	1/12	OMIM:301043
10735	STAG2	HP:0002540	Inability to walk	HP:0040282	ORPHA:93925
10735	STAG2	HP:0002540	Inability to walk	HP:0040282	ORPHA:220386
10735	STAG2	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:521258
10735	STAG2	HP:0002507	Semilobar holoprosencephaly	2/12	OMIM:301043
10735	STAG2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93925
10735	STAG2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:220386
10735	STAG2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93925
10735	STAG2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:220386
10735	STAG2	HP:0001344	Absent speech	HP:0040282	ORPHA:93925
10735	STAG2	HP:0001344	Absent speech	HP:0040282	ORPHA:220386
10735	STAG2	HP:0002650	Scoliosis	HP:0040283	ORPHA:93925
10735	STAG2	HP:0002650	Scoliosis	1/1	OMIM:301022
10735	STAG2	HP:0002650	Scoliosis	HP:0040283	ORPHA:220386
10735	STAG2	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:521258
10735	STAG2	HP:0000193	Bifid uvula	1/1	OMIM:301022
10735	STAG2	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93925
10735	STAG2	HP:0000193	Bifid uvula	HP:0040282	ORPHA:220386
10735	STAG2	HP:0000161	Median cleft upper lip	1/12	OMIM:301043
10735	STAG2	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:220386
10735	STAG2	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93925
10735	STAG2	HP:0000176	Submucous cleft hard palate	1/12	OMIM:301043
10735	STAG2	HP:0000175	Cleft palate	HP:0040282	ORPHA:93925
10735	STAG2	HP:0000175	Cleft palate	3/12	OMIM:301043
10735	STAG2	HP:0000175	Cleft palate	-	OMIM:301022
10735	STAG2	HP:0000175	Cleft palate	HP:0040282	ORPHA:220386
10735	STAG2	HP:0007665	Curly eyelashes	-	OMIM:301022
10735	STAG2	HP:0410031	Submucous cleft of soft and hard palate	1/1	OMIM:301022
10735	STAG2	HP:0410030	Cleft lip	-	OMIM:301022
10735	STAG2	HP:0006315	Solitary median maxillary central incisor	1/12	OMIM:301043
10735	STAG2	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:220386
10735	STAG2	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93925
10735	STAG2	HP:0008947	Floppy infant	HP:0040282	ORPHA:93925
10735	STAG2	HP:0008947	Floppy infant	HP:0040282	ORPHA:220386
10735	STAG2	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93925
10735	STAG2	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:220386
10735	STAG2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:220386
10735	STAG2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93925
10735	STAG2	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:220386
10735	STAG2	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93925
10735	STAG2	HP:0001419	X-linked recessive inheritance	-	OMIM:301043
10735	STAG2	HP:0001417	X-linked inheritance	-	OMIM:301022
10735	STAG2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93925
10735	STAG2	HP:0002020	Gastroesophageal reflux	1/12	OMIM:301043
10735	STAG2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220386
10735	STAG2	HP:0002019	Constipation	HP:0040282	ORPHA:93925
10735	STAG2	HP:0002019	Constipation	HP:0040282	ORPHA:220386
10735	STAG2	HP:0002033	Poor suck	HP:0040281	ORPHA:93925
10735	STAG2	HP:0002033	Poor suck	HP:0040281	ORPHA:220386
10735	STAG2	HP:0002015	Dysphagia	HP:0040282	ORPHA:93925
10735	STAG2	HP:0002015	Dysphagia	HP:0040282	ORPHA:220386
10735	STAG2	HP:0002013	Vomiting	HP:0040282	ORPHA:93925
10735	STAG2	HP:0002013	Vomiting	HP:0040282	ORPHA:220386
10735	STAG2	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:220386
10735	STAG2	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93925
10735	STAG2	HP:0002007	Frontal bossing	-	OMIM:301022
10735	STAG2	HP:0005968	Temperature instability	HP:0040282	ORPHA:220386
10735	STAG2	HP:0005968	Temperature instability	HP:0040282	ORPHA:93925
10735	STAG2	HP:0003316	Butterfly vertebrae	1/12	OMIM:301043
10735	STAG2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:521258
10735	STAG2	HP:0010442	Polydactyly	-	OMIM:301022
10735	STAG2	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:220386
10735	STAG2	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93925
10735	STAG2	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:220386
10735	STAG2	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93925
10735	STAG2	HP:0003577	Congenital onset	1/1	OMIM:301022
10735	STAG2	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93925
10735	STAG2	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:220386
10735	STAG2	HP:0002247	Duodenal atresia	1/12	OMIM:301043
10735	STAG2	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:220386
10735	STAG2	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93925
10735	STAG2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93925
10735	STAG2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040284	OMIM:301022
10735	STAG2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:220386
10735	STAG2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93925
10735	STAG2	HP:0011968	Feeding difficulties	1/1	OMIM:301022
10735	STAG2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:220386
10735	STAG2	HP:0010628	Facial palsy	1/1	OMIM:301022
10735	STAG2	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:220386
10735	STAG2	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93925
10735	STAG2	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:220386
10735	STAG2	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93925
10735	STAG2	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:521258
10735	STAG2	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:521258
10735	STAG2	HP:0002317	Unsteady gait	-	OMIM:301022
10735	STAG2	HP:0008467	Thoracic hemivertebrae	3/12	OMIM:301043
10735	STAG2	HP:0008428	Vertebral clefting	1/12	OMIM:301043
10735	STAG2	HP:0004209	Clinodactyly of the 5th finger	1/1	OMIM:301022
10735	STAG2	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:220386
10735	STAG2	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93925
10735	STAG2	HP:0009099	Median cleft palate	1/12	OMIM:301043
10735	STAG2	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:521258
10735	STAG2	HP:0000609	Optic nerve hypoplasia	1/12	OMIM:301043
10735	STAG2	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93925
10735	STAG2	HP:0000601	Hypotelorism	HP:0040281	ORPHA:220386
10735	STAG2	HP:0006988	Alobar holoprosencephaly	2/12	OMIM:301043
10735	STAG2	HP:0004322	Short stature	HP:0040283	ORPHA:521258
10735	STAG2	HP:0004322	Short stature	HP:0040281	ORPHA:220386
10735	STAG2	HP:0004322	Short stature	HP:0040281	ORPHA:93925
10735	STAG2	HP:0004322	Short stature	-	OMIM:301022
10735	STAG2	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:220386
10735	STAG2	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93925
10735	STAG2	HP:0004383	Hypoplastic left heart	3/12	OMIM:301043
10735	STAG2	HP:0004383	Hypoplastic left heart	HP:0040284	OMIM:301022
10735	STAG2	HP:0031936	Delayed ability to walk	-	OMIM:301022
10735	STAG2	HP:0000752	Hyperactivity	HP:0040282	ORPHA:521258
10735	STAG2	HP:0000737	Irritability	HP:0040282	ORPHA:93925
10735	STAG2	HP:0000737	Irritability	HP:0040282	ORPHA:220386
10735	STAG2	HP:0000739	Anxiety	HP:0040282	ORPHA:93925
10735	STAG2	HP:0000739	Anxiety	HP:0040282	ORPHA:521258
10735	STAG2	HP:0000739	Anxiety	HP:0040282	ORPHA:220386
10735	STAG2	HP:0000750	Delayed speech and language development	-	OMIM:301022
10735	STAG2	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:220386
10735	STAG2	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93925
10735	STAG2	HP:0000741	Apathy	HP:0040282	ORPHA:220386
10735	STAG2	HP:0000741	Apathy	HP:0040282	ORPHA:93925
10735	STAG2	HP:0000716	Depression	HP:0040282	ORPHA:93925
10735	STAG2	HP:0000716	Depression	HP:0040282	ORPHA:220386
10735	STAG2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:521258
10735	STAG2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93925
10735	STAG2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:220386
10735	STAG2	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:220386
10735	STAG2	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93925
10735	STAG2	HP:0011456	Absent stapes	1/1	OMIM:301022
10735	STAG2	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:220386
10735	STAG2	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93925
10735	STAG2	HP:0000776	Congenital diaphragmatic hernia	HP:0040284	OMIM:301022
10735	STAG2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93925
10735	STAG2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:220386
10735	STAG2	HP:0004467	Preauricular pit	1/1	OMIM:301022
10735	STAG2	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:220386
10735	STAG2	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93925
10735	STAG2	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:220386
10735	STAG2	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93925
10735	STAG2	HP:0012806	Proboscis	HP:0040283	ORPHA:220386
10735	STAG2	HP:0012806	Proboscis	HP:0040283	ORPHA:93925
10735	STAG2	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:220386
10735	STAG2	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93925
10735	STAG2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93925
10735	STAG2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:220386
10735	STAG2	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:220386
10735	STAG2	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93925
10735	STAG2	HP:0045075	Sparse eyebrow	HP:0040282	ORPHA:521258
10735	STAG2	HP:0011624	Apical muscular ventricular septal defect	1/1	OMIM:301022
10735	STAG2	HP:0045005	Neural tube defect	HP:0040282	ORPHA:220386
10735	STAG2	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93925
10735	STAG2	HP:0008050	Abnormality of the palpebral fissures	HP:0040282	ORPHA:521258
10735	STAG2	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:220386
10735	STAG2	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93925
10735	STAG2	HP:0000286	Epicanthus	HP:0040282	ORPHA:521258
10735	STAG2	HP:0000297	Facial hypotonia	HP:0040282	ORPHA:521258
10735	STAG2	HP:0000293	Full cheeks	-	OMIM:301022
10735	STAG2	HP:0000294	Low anterior hairline	1/1	OMIM:301022
10735	STAG2	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93925
10735	STAG2	HP:0000256	Macrocephaly	HP:0040283	ORPHA:220386
10735	STAG2	HP:0000272	Malar flattening	HP:0040282	ORPHA:521258
10735	STAG2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93925
10735	STAG2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:220386
10735	STAG2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93925
10735	STAG2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220386
10735	STAG2	HP:0000252	Microcephaly	HP:0040282	ORPHA:220386
10735	STAG2	HP:0000252	Microcephaly	HP:0040282	ORPHA:93925
10735	STAG2	HP:0000252	Microcephaly	8/11	OMIM:301043
10735	STAG2	HP:0000252	Microcephaly	1/1	OMIM:301022
10735	STAG2	HP:0000219	Thin upper lip vermilion	-	OMIM:301022
10735	STAG2	HP:0000218	High palate	HP:0040282	ORPHA:93925
10735	STAG2	HP:0000218	High palate	HP:0040282	ORPHA:220386
10735	STAG2	HP:0002871	Central apnea	HP:0040282	ORPHA:220386
10735	STAG2	HP:0002871	Central apnea	HP:0040282	ORPHA:93925
10735	STAG2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93925
10735	STAG2	HP:0001508	Failure to thrive	1/1	OMIM:301022
10735	STAG2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:220386
10735	STAG2	HP:0030048	Colpocephaly	1/12	OMIM:301043
10735	STAG2	HP:0001510	Growth delay	HP:0040281	ORPHA:93925
10735	STAG2	HP:0001510	Growth delay	HP:0040281	ORPHA:220386
10735	STAG2	HP:0000384	Preauricular skin tag	1/1	OMIM:301022
10735	STAG2	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:220386
10735	STAG2	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93925
10735	STAG2	HP:0000365	Hearing impairment	3/12	OMIM:301043
10735	STAG2	HP:0000369	Low-set ears	1/12	OMIM:301043
10735	STAG2	HP:0000369	Low-set ears	-	OMIM:301022
10735	STAG2	HP:0000340	Sloping forehead	1/1	OMIM:301022
10735	STAG2	HP:0000343	Long philtrum	-	OMIM:301022
10735	STAG2	HP:0001680	Coarctation of aorta	HP:0040284	OMIM:301022
10735	STAG2	HP:0000347	Micrognathia	3/12	OMIM:301043
10735	STAG2	HP:0000347	Micrognathia	-	OMIM:301022
10735	STAG2	HP:0000319	Smooth philtrum	-	OMIM:301022
10735	STAG2	HP:0001643	Patent ductus arteriosus	1/12	OMIM:301043
10735	STAG2	HP:0000322	Short philtrum	-	OMIM:301022
10735	STAG2	HP:0000325	Triangular face	-	OMIM:301022
10735	STAG2	HP:0001655	Patent foramen ovale	1/12	OMIM:301043
10735	STAG2	HP:0001629	Ventricular septal defect	3/12	OMIM:301043
10735	STAG2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93925
10735	STAG2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:220386
10735	STAG2	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:521258
10735	STAG2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93925
10735	STAG2	HP:0000407	Sensorineural hearing impairment	-	OMIM:301022
10735	STAG2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:220386
10735	STAG2	HP:0001719	Double outlet right ventricle	1/12	OMIM:301043
10735	STAG2	HP:0005280	Depressed nasal bridge	-	OMIM:301022
10735	STAG2	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:521258
10735	STAG2	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93925
10735	STAG2	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:220386
10735	STAG2	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93925
10735	STAG2	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:220386
10735	STAG2	HP:0001763	Pes planus	-	OMIM:301022
10735	STAG2	HP:0000448	Prominent nose	-	OMIM:301022
10735	STAG2	HP:0000414	Bulbous nose	-	OMIM:301022
10735	STAG2	HP:0000413	Atresia of the external auditory canal	1/1	OMIM:301022
10735	STAG2	HP:0000431	Wide nasal bridge	-	OMIM:301022
10735	STAG2	HP:0000520	Proptosis	-	OMIM:301022
10736	SIX2	HP:0001263	Global developmental delay	-	ORPHA:488437
10736	SIX2	HP:0000077	Abnormality of the kidney	-	ORPHA:488437
10736	SIX2	HP:0002693	Abnormal skull base morphology	HP:0040282	ORPHA:488437
10736	SIX2	HP:0002007	Frontal bossing	HP:0040281	ORPHA:488437
10736	SIX2	HP:0011330	Metopic synostosis	HP:0040282	ORPHA:488437
10736	SIX2	HP:0004322	Short stature	HP:0040282	ORPHA:488437
10736	SIX2	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	HP:0040281	ORPHA:488437
10736	SIX2	HP:0000820	Abnormality of the thyroid gland	-	ORPHA:488437
10736	SIX2	HP:0010291	Prominent palatine ridges	HP:0040282	ORPHA:488437
10736	SIX2	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:488437
10736	SIX2	HP:0000256	Macrocephaly	HP:0040282	ORPHA:488437
10736	SIX2	HP:0001518	Small for gestational age	HP:0040282	ORPHA:488437
10736	SIX2	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:488437
10736	SIX2	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:488437
10736	SIX2	HP:0000348	High forehead	HP:0040281	ORPHA:488437
10736	SIX2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:488437
10736	SIX2	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:488437
10736	SIX2	HP:0000455	Broad nasal tip	HP:0040281	ORPHA:488437
10736	SIX2	HP:0005494	Premature posterior fontanelle closure	HP:0040282	ORPHA:488437
10736	SIX2	HP:0005453	Absent/hypoplastic paranasal sinuses	HP:0040281	ORPHA:488437
10736	SIX2	HP:0000508	Ptosis	HP:0040281	ORPHA:488437
10736	SIX2	HP:0000537	Epicanthus inversus	HP:0040281	ORPHA:488437
10743	RAI1	HP:0001169	Broad palm	HP:0040282	OMIM:182290
10743	RAI1	HP:0001169	Broad palm	HP:0040282	ORPHA:819
10743	RAI1	HP:0001156	Brachydactyly	HP:0040281	ORPHA:819
10743	RAI1	HP:0001156	Brachydactyly	22/27	OMIM:182290
10743	RAI1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:819
10743	RAI1	HP:0002463	Language impairment	-	OMIM:610883
10743	RAI1	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:477817
10743	RAI1	HP:0002474	Expressive language delay	-	OMIM:610883
10743	RAI1	HP:0002474	Expressive language delay	HP:0040281	ORPHA:1713
10743	RAI1	HP:0007328	Impaired pain sensation	HP:0040282	ORPHA:819
10743	RAI1	HP:0007328	Impaired pain sensation	HP:0040282	OMIM:182290
10743	RAI1	HP:0008609	Abnormal middle ear morphology	HP:0040282	OMIM:182290
10743	RAI1	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:819
10743	RAI1	HP:0010863	Receptive language delay	-	OMIM:610883
10743	RAI1	HP:0034819	Iris nodule	HP:0040283	ORPHA:819
10743	RAI1	HP:0003745	Sporadic	-	OMIM:610883
10743	RAI1	HP:0003745	Sporadic	-	OMIM:182290
10743	RAI1	HP:0001290	Generalized hypotonia	-	OMIM:610883
10743	RAI1	HP:0001290	Generalized hypotonia	HP:0040282	OMIM:182290
10743	RAI1	HP:0001270	Motor delay	1/2	OMIM:182290
10743	RAI1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:819
10743	RAI1	HP:0001284	Areflexia	-	OMIM:182290
10743	RAI1	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:1713
10743	RAI1	HP:0001256	Intellectual disability, mild	-	OMIM:610883
10743	RAI1	HP:0001250	Seizure	-	OMIM:610883
10743	RAI1	HP:0001250	Seizure	HP:0040283	ORPHA:819
10743	RAI1	HP:0001250	Seizure	27/104	OMIM:182290
10743	RAI1	HP:0001252	Hypotonia	HP:0040281	ORPHA:819
10743	RAI1	HP:0001252	Hypotonia	HP:0040281	ORPHA:1713
10743	RAI1	HP:0001252	Hypotonia	2/2	OMIM:182290
10743	RAI1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:819
10743	RAI1	HP:0001249	Intellectual disability	2/2	OMIM:182290
10743	RAI1	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:819
10743	RAI1	HP:0001265	Hyporeflexia	10/16	OMIM:182290
10743	RAI1	HP:0001260	Dysarthria	HP:0040281	ORPHA:1713
10743	RAI1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:477817
10743	RAI1	HP:0001263	Global developmental delay	-	OMIM:610883
10743	RAI1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:819
10743	RAI1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1713
10743	RAI1	HP:0001263	Global developmental delay	105/105	OMIM:182290
10743	RAI1	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:477817
10743	RAI1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040282	ORPHA:819
10743	RAI1	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:819
10743	RAI1	HP:0000079	Abnormality of the urinary system	HP:0040283	OMIM:182290
10743	RAI1	HP:0000069	Abnormality of the ureter	HP:0040283	ORPHA:819
10743	RAI1	HP:0001387	Joint stiffness	HP:0040283	ORPHA:819
10743	RAI1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:477817
10743	RAI1	HP:0032508	Polyembolokoilamania	HP:0040282	ORPHA:819
10743	RAI1	HP:0032508	Polyembolokoilamania	1/2	OMIM:182290
10743	RAI1	HP:0032509	Onychotillomania	HP:0040282	ORPHA:819
10743	RAI1	HP:0032509	Onychotillomania	1/2	OMIM:182290
10743	RAI1	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:477817
10743	RAI1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:819
10743	RAI1	HP:0008872	Feeding difficulties in infancy	-	OMIM:610883
10743	RAI1	HP:0000006	Autosomal dominant inheritance	-	OMIM:182290
10743	RAI1	HP:0002650	Scoliosis	-	OMIM:610883
10743	RAI1	HP:0002650	Scoliosis	HP:0040282	ORPHA:819
10743	RAI1	HP:0002650	Scoliosis	HP:0040282	ORPHA:1713
10743	RAI1	HP:0002650	Scoliosis	38/108	OMIM:182290
10743	RAI1	HP:0002623	Overriding aorta	HP:0040283	ORPHA:477817
10743	RAI1	HP:0000194	Open mouth	HP:0040282	ORPHA:819
10743	RAI1	HP:0012168	Head-banging	1/2	OMIM:182290
10743	RAI1	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:819
10743	RAI1	HP:0000164	Abnormality of the dentition	25/46	OMIM:182290
10743	RAI1	HP:0000175	Cleft palate	HP:0040283	ORPHA:819
10743	RAI1	HP:0000154	Wide mouth	HP:0040283	ORPHA:1713
10743	RAI1	HP:0000154	Wide mouth	-	OMIM:610883
10743	RAI1	HP:0008947	Floppy infant	HP:0040281	ORPHA:477817
10743	RAI1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:819
10743	RAI1	HP:0032521	Self hugging	-	OMIM:182290
10743	RAI1	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:819
10743	RAI1	HP:0002715	Abnormality of the immune system	HP:0040282	OMIM:182290
10743	RAI1	HP:0002714	Downturned corners of mouth	1/2	OMIM:182290
10743	RAI1	HP:0002720	Decreased circulating IgA concentration	HP:0040283	ORPHA:819
10743	RAI1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:1713
10743	RAI1	HP:0002020	Gastroesophageal reflux	-	OMIM:610883
10743	RAI1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:819
10743	RAI1	HP:0002020	Gastroesophageal reflux	1/2	OMIM:182290
10743	RAI1	HP:0002019	Constipation	HP:0040282	ORPHA:819
10743	RAI1	HP:0002019	Constipation	HP:0040282	OMIM:182290
10743	RAI1	HP:0004691	2-3 toe syndactyly	HP:0040283	ORPHA:477817
10743	RAI1	HP:0002011	Morphological central nervous system abnormality	-	OMIM:610883
10743	RAI1	HP:0002007	Frontal bossing	HP:0040281	ORPHA:819
10743	RAI1	HP:0011800	Midface retrusion	HP:0040281	ORPHA:819
10743	RAI1	HP:0011800	Midface retrusion	2/2	OMIM:182290
10743	RAI1	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:819
10743	RAI1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:819
10743	RAI1	HP:0003396	Syringomyelia	HP:0040283	ORPHA:477817
10743	RAI1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1713
10743	RAI1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:610883
10743	RAI1	HP:0003380	Decreased number of peripheral myelinated nerve fibers	HP:0040283	ORPHA:477817
10743	RAI1	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:819
10743	RAI1	HP:0002155	Hypertriglyceridemia	HP:0040282	OMIM:182290
10743	RAI1	HP:0002121	Generalized non-motor (absence) seizure	1/2	OMIM:182290
10743	RAI1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:819
10743	RAI1	HP:0002119	Ventriculomegaly	HP:0040282	OMIM:182290
10743	RAI1	HP:0002136	Broad-based gait	HP:0040283	ORPHA:477817
10743	RAI1	HP:0002108	Spontaneous pneumothorax	1/2	OMIM:182290
10743	RAI1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:819
10743	RAI1	HP:0010535	Sleep apnea	HP:0040283	ORPHA:819
10743	RAI1	HP:0010535	Sleep apnea	HP:0040281	ORPHA:1713
10743	RAI1	HP:0010535	Sleep apnea	-	OMIM:610883
10743	RAI1	HP:0010529	Echolalia	-	OMIM:610883
10743	RAI1	HP:0010529	Echolalia	HP:0040281	ORPHA:1713
10743	RAI1	HP:0100710	Impulsivity	HP:0040282	ORPHA:819
10743	RAI1	HP:0100716	Self-injurious behavior	HP:0040281	ORPHA:819
10743	RAI1	HP:0200101	Decreased/absent ankle reflexes	HP:0040282	ORPHA:477817
10743	RAI1	HP:0200136	Oral-pharyngeal dysphagia	-	OMIM:610883
10743	RAI1	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:1713
10743	RAI1	HP:0100729	Large face	HP:0040281	ORPHA:819
10743	RAI1	HP:0007021	Pain insensitivity	8/16	OMIM:182290
10743	RAI1	HP:0007010	Poor fine motor coordination	HP:0040282	ORPHA:1713
10743	RAI1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040281	ORPHA:819
10743	RAI1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040281	ORPHA:1713
10743	RAI1	HP:0032041	Vocal cord polyp	HP:0040282	ORPHA:819
10743	RAI1	HP:0002381	Aphasia	HP:0040281	ORPHA:1713
10743	RAI1	HP:0002381	Aphasia	-	OMIM:610883
10743	RAI1	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:477817
10743	RAI1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:477817
10743	RAI1	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:819
10743	RAI1	HP:0002360	Sleep abnormality	46/52	OMIM:182290
10743	RAI1	HP:0002360	Sleep abnormality	-	OMIM:610883
10743	RAI1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:819
10743	RAI1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1713
10743	RAI1	HP:0002353	EEG abnormality	HP:0040282	OMIM:182290
10743	RAI1	HP:0002353	EEG abnormality	-	OMIM:610883
10743	RAI1	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:819
10743	RAI1	HP:0009830	Peripheral neuropathy	HP:0040282	OMIM:182290
10743	RAI1	HP:0010804	Tented upper lip vermilion	HP:0040281	ORPHA:819
10743	RAI1	HP:0010803	Everted upper lip vermilion	HP:0040282	OMIM:182290
10743	RAI1	HP:0010807	Open bite	HP:0040283	ORPHA:1713
10743	RAI1	HP:0008499	High hypermetropia	HP:0040282	ORPHA:1713
10743	RAI1	HP:0010780	Hyperacusis	HP:0040282	OMIM:182290
10743	RAI1	HP:0010780	Hyperacusis	HP:0040282	ORPHA:819
10743	RAI1	HP:0003623	Neonatal onset	1/1	OMIM:182290
10743	RAI1	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:477817
10743	RAI1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:819
10743	RAI1	HP:0004209	Clinodactyly of the 5th finger	1/2	OMIM:182290
10743	RAI1	HP:0031849	Sleep-wake inversion	-	OMIM:182290
10743	RAI1	HP:0004279	Short palm	HP:0040282	OMIM:182290
10743	RAI1	HP:5200360	Short REM sleep	HP:0040282	ORPHA:819
10743	RAI1	HP:0004220	Short middle phalanx of the 5th finger	1/2	OMIM:182290
10743	RAI1	HP:0001956	Truncal obesity	2/2	OMIM:182290
10743	RAI1	HP:0000600	Abnormality of the pharynx	HP:0040281	ORPHA:1713
10743	RAI1	HP:0012689	Abnormal pineal melatonin secretion	HP:0040281	ORPHA:819
10743	RAI1	HP:0000680	Delayed eruption of primary teeth	HP:0040281	ORPHA:819
10743	RAI1	HP:0011342	Mild global developmental delay	2/2	OMIM:182290
10743	RAI1	HP:0000679	Taurodontia	HP:0040281	ORPHA:819
10743	RAI1	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:477817
10743	RAI1	HP:0000678	Dental crowding	-	OMIM:610883
10743	RAI1	HP:0000689	Dental malocclusion	-	OMIM:610883
10743	RAI1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:477817
10743	RAI1	HP:0000664	Synophrys	HP:0040281	ORPHA:819
10743	RAI1	HP:0000664	Synophrys	6/12	OMIM:182290
10743	RAI1	HP:0004324	Increased body weight	10/30	OMIM:182290
10743	RAI1	HP:0004322	Short stature	-	OMIM:610883
10743	RAI1	HP:0004322	Short stature	HP:0040282	ORPHA:819
10743	RAI1	HP:0004322	Short stature	HP:0040283	ORPHA:1713
10743	RAI1	HP:0004322	Short stature	57/77	OMIM:182290
10743	RAI1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:819
10743	RAI1	HP:0005607	Abnormal tracheobronchial morphology	HP:0040281	ORPHA:819
10743	RAI1	HP:0005607	Abnormal tracheobronchial morphology	HP:0040282	OMIM:182290
10743	RAI1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:819
10743	RAI1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1713
10743	RAI1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	OMIM:182290
10743	RAI1	HP:0031936	Delayed ability to walk	HP:0040281	ORPHA:477817
10743	RAI1	HP:0000752	Hyperactivity	49/66	OMIM:182290
10743	RAI1	HP:0000752	Hyperactivity	-	OMIM:610883
10743	RAI1	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:477817
10743	RAI1	HP:0000762	Decreased nerve conduction velocity	HP:0040283	ORPHA:477817
10743	RAI1	HP:0000739	Anxiety	HP:0040281	ORPHA:819
10743	RAI1	HP:0000739	Anxiety	HP:0040282	ORPHA:1713
10743	RAI1	HP:0000733	Motor stereotypy	HP:0040281	ORPHA:819
10743	RAI1	HP:0000733	Motor stereotypy	HP:0040282	OMIM:182290
10743	RAI1	HP:0000733	Motor stereotypy	-	OMIM:610883
10743	RAI1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:477817
10743	RAI1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:819
10743	RAI1	HP:0000750	Delayed speech and language development	7/12	OMIM:182290
10743	RAI1	HP:0000742	Self-mutilation	77/86	OMIM:182290
10743	RAI1	HP:0000717	Autism	-	OMIM:610883
10743	RAI1	HP:0000717	Autism	HP:0040281	ORPHA:1713
10743	RAI1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:477817
10743	RAI1	HP:0000708	Atypical behavior	HP:0040282	OMIM:182290
10743	RAI1	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:819
10743	RAI1	HP:0003124	Hypercholesterolemia	7/17	OMIM:182290
10743	RAI1	HP:0040129	Abnormal nerve conduction velocity	0/11	OMIM:182290
10743	RAI1	HP:0003196	Short nose	HP:0040282	ORPHA:819
10743	RAI1	HP:0003146	Hypocholesterolemia	-	OMIM:610883
10743	RAI1	HP:0000817	Reduced eye contact	-	OMIM:610883
10743	RAI1	HP:0000826	Precocious puberty	HP:0040283	ORPHA:819
10743	RAI1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:819
10743	RAI1	HP:0000821	Hypothyroidism	HP:0040283	OMIM:610883
10743	RAI1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:819
10743	RAI1	HP:0000820	Abnormality of the thyroid gland	HP:0040282	OMIM:182290
10743	RAI1	HP:0008081	Pes valgus	HP:0040283	ORPHA:477817
10743	RAI1	HP:0011675	Arrhythmia	HP:0040283	ORPHA:819
10743	RAI1	HP:0000283	Broad face	7/12	OMIM:182290
10743	RAI1	HP:0000280	Coarse facial features	HP:0040282	ORPHA:819
10743	RAI1	HP:0000272	Malar flattening	24/26	OMIM:182290
10743	RAI1	HP:0000243	Trigonocephaly	-	OMIM:610883
10743	RAI1	HP:0000252	Microcephaly	-	OMIM:610883
10743	RAI1	HP:0000252	Microcephaly	HP:0040283	ORPHA:819
10743	RAI1	HP:0000252	Microcephaly	HP:0040283	ORPHA:1713
10743	RAI1	HP:0000248	Brachycephaly	HP:0040281	ORPHA:819
10743	RAI1	HP:0000248	Brachycephaly	7/12	OMIM:182290
10743	RAI1	HP:0000220	Velopharyngeal insufficiency	HP:0040282	OMIM:182290
10743	RAI1	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:819
10743	RAI1	HP:0012210	Abnormal renal morphology	-	OMIM:182290
10743	RAI1	HP:0012210	Abnormal renal morphology	-	OMIM:610883
10743	RAI1	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:477817
10743	RAI1	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:477817
10743	RAI1	HP:0000218	High palate	-	OMIM:610883
10743	RAI1	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:819
10743	RAI1	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:477817
10743	RAI1	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:819
10743	RAI1	HP:0000202	Orofacial cleft	HP:0040283	OMIM:182290
10743	RAI1	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:819
10743	RAI1	HP:0001508	Failure to thrive	-	OMIM:610883
10743	RAI1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:1713
10743	RAI1	HP:0001508	Failure to thrive	1/2	OMIM:182290
10743	RAI1	HP:0001518	Small for gestational age	-	OMIM:610883
10743	RAI1	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:819
10743	RAI1	HP:0001513	Obesity	HP:0040281	ORPHA:819
10743	RAI1	HP:0011098	Speech apraxia	HP:0040282	ORPHA:1713
10743	RAI1	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:477817
10743	RAI1	HP:0000389	Chronic otitis media	1/2	OMIM:182290
10743	RAI1	HP:0001609	Hoarse voice	HP:0040281	ORPHA:819
10743	RAI1	HP:0001609	Hoarse voice	68/84	OMIM:182290
10743	RAI1	HP:0002936	Distal sensory impairment	HP:0040282	ORPHA:477817
10743	RAI1	HP:0001600	Abnormality of the larynx	HP:0040282	OMIM:182290
10743	RAI1	HP:0002916	Abnormality of chromosome segregation	HP:0040281	ORPHA:1713
10743	RAI1	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:1713
10743	RAI1	HP:0000365	Hearing impairment	-	OMIM:610883
10743	RAI1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1713
10743	RAI1	HP:0000365	Hearing impairment	52/85	OMIM:182290
10743	RAI1	HP:0000356	Abnormality of the outer ear	HP:0040282	OMIM:182290
10743	RAI1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:1713
10743	RAI1	HP:0000343	Long philtrum	HP:0040283	ORPHA:477817
10743	RAI1	HP:0000337	Broad forehead	HP:0040281	ORPHA:819
10743	RAI1	HP:0000337	Broad forehead	HP:0040282	ORPHA:1713
10743	RAI1	HP:0000337	Broad forehead	-	OMIM:610883
10743	RAI1	HP:0000347	Micrognathia	-	OMIM:610883
10743	RAI1	HP:0000347	Micrognathia	HP:0040282	ORPHA:819
10743	RAI1	HP:0000347	Micrognathia	HP:0040282	ORPHA:1713
10743	RAI1	HP:0000321	Square face	2/2	OMIM:182290
10743	RAI1	HP:0000321	Square face	HP:0040282	ORPHA:819
10743	RAI1	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:477817
10743	RAI1	HP:0000319	Smooth philtrum	-	OMIM:610883
10743	RAI1	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:477817
10743	RAI1	HP:0000316	Hypertelorism	-	OMIM:610883
10743	RAI1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:819
10743	RAI1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:1713
10743	RAI1	HP:0002973	Abnormal forearm morphology	HP:0040283	OMIM:182290
10743	RAI1	HP:0000322	Short philtrum	HP:0040282	ORPHA:819
10743	RAI1	HP:0000325	Triangular face	HP:0040283	ORPHA:477817
10743	RAI1	HP:0000325	Triangular face	HP:0040282	ORPHA:1713
10743	RAI1	HP:0000325	Triangular face	-	OMIM:610883
10743	RAI1	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:477817
10743	RAI1	HP:0001655	Patent foramen ovale	-	OMIM:610883
10743	RAI1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:477817
10743	RAI1	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:477817
10743	RAI1	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:819
10743	RAI1	HP:0001627	Abnormal heart morphology	-	OMIM:182290
10743	RAI1	HP:0001626	Abnormality of the cardiovascular system	-	OMIM:610883
10743	RAI1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:477817
10743	RAI1	HP:0001631	Atrial septal defect	-	OMIM:610883
10743	RAI1	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:819
10743	RAI1	HP:0000303	Mandibular prognathia	0/2	OMIM:182290
10743	RAI1	HP:0000303	Mandibular prognathia	-	OMIM:610883
10743	RAI1	HP:0005301	Persistent left superior vena cava	HP:0040283	ORPHA:477817
10743	RAI1	HP:0000403	Recurrent otitis media	HP:0040281	ORPHA:819
10743	RAI1	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:819
10743	RAI1	HP:0001719	Double outlet right ventricle	HP:0040283	ORPHA:477817
10743	RAI1	HP:0005274	Prominent nasal tip	-	OMIM:610883
10743	RAI1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:819
10743	RAI1	HP:0000486	Strabismus	HP:0040283	ORPHA:477817
10743	RAI1	HP:0000486	Strabismus	HP:0040282	ORPHA:819
10743	RAI1	HP:0000486	Strabismus	2/2	OMIM:182290
10743	RAI1	HP:0000482	Microcornea	HP:0040282	ORPHA:819
10743	RAI1	HP:0000478	Abnormality of the eye	HP:0040282	OMIM:182290
10743	RAI1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:477817
10743	RAI1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:1713
10743	RAI1	HP:0000494	Downslanted palpebral fissures	-	OMIM:610883
10743	RAI1	HP:0000490	Deeply set eye	HP:0040281	ORPHA:819
10743	RAI1	HP:0000490	Deeply set eye	HP:0040282	OMIM:182290
10743	RAI1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:819
10743	RAI1	HP:0012448	Delayed myelination	-	OMIM:610883
10743	RAI1	HP:0012450	Chronic constipation	HP:0040282	ORPHA:477817
10743	RAI1	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:819
10743	RAI1	HP:0001763	Pes planus	HP:0040283	ORPHA:477817
10743	RAI1	HP:0001763	Pes planus	HP:0040282	ORPHA:819
10743	RAI1	HP:0001763	Pes planus	12/20	OMIM:182290
10743	RAI1	HP:0000445	Wide nose	HP:0040283	ORPHA:477817
10743	RAI1	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:477817
10743	RAI1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:477817
10743	RAI1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:819
10743	RAI1	HP:0000431	Wide nasal bridge	23/26	OMIM:182290
10743	RAI1	HP:0001852	Sandal gap	HP:0040283	ORPHA:477817
10743	RAI1	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:819
10743	RAI1	HP:0000582	Upslanted palpebral fissure	1/2	OMIM:182290
10743	RAI1	HP:0011220	Prominent forehead	16/26	OMIM:182290
10743	RAI1	HP:0000541	Retinal detachment	HP:0040283	ORPHA:819
10743	RAI1	HP:0000541	Retinal detachment	HP:0040283	OMIM:182290
10743	RAI1	HP:0000540	Hypermetropia	-	OMIM:610883
10743	RAI1	HP:0000545	Myopia	HP:0040282	ORPHA:819
10743	RAI1	HP:0000545	Myopia	1/2	OMIM:182290
10747	MASP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613791
10747	MASP2	HP:0002725	Systemic lupus erythematosus	1/1	OMIM:613791
10747	MASP2	HP:0004431	Reduced circulating complement concentration	1/1	OMIM:613791
10747	MASP2	HP:0100279	Ulcerative colitis	1/1	OMIM:613791
10747	MASP2	HP:0006532	Recurrent pneumonia	1/1	OMIM:613791
10749	KIF1C	HP:0002497	Spastic ataxia	HP:0040281	ORPHA:397946
10749	KIF1C	HP:0002497	Spastic ataxia	-	OMIM:611302
10749	KIF1C	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:397946
10749	KIF1C	HP:0001272	Cerebellar atrophy	HP:0040284	ORPHA:397946
10749	KIF1C	HP:0001272	Cerebellar atrophy	1/7	OMIM:611302
10749	KIF1C	HP:0001268	Mental deterioration	0/7	OMIM:611302
10749	KIF1C	HP:0002599	Head titubation	5/6	OMIM:611302
10749	KIF1C	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:397946
10749	KIF1C	HP:0001260	Dysarthria	HP:0040281	ORPHA:397946
10749	KIF1C	HP:0001260	Dysarthria	5/5	OMIM:611302
10749	KIF1C	HP:0001263	Global developmental delay	HP:0040283	ORPHA:397946
10749	KIF1C	HP:0001257	Spasticity	HP:0040282	ORPHA:397946
10749	KIF1C	HP:0001257	Spasticity	4/7	OMIM:611302
10749	KIF1C	HP:0002500	Abnormal cerebral white matter morphology	HP:0040281	ORPHA:397946
10749	KIF1C	HP:0025357	Erratic myoclonus	HP:0040282	ORPHA:397946
10749	KIF1C	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:397946
10749	KIF1C	HP:0001347	Hyperreflexia	6/7	OMIM:611302
10749	KIF1C	HP:0000007	Autosomal recessive inheritance	-	OMIM:611302
10749	KIF1C	HP:0001337	Tremor	HP:0040282	ORPHA:397946
10749	KIF1C	HP:0001337	Tremor	5/6	OMIM:611302
10749	KIF1C	HP:0001310	Dysmetria	HP:0040282	ORPHA:397946
10749	KIF1C	HP:0001310	Dysmetria	7/7	OMIM:611302
10749	KIF1C	HP:0007663	Reduced visual acuity	HP:0040284	ORPHA:397946
10749	KIF1C	HP:0007663	Reduced visual acuity	1/7	OMIM:611302
10749	KIF1C	HP:0002080	Intention tremor	HP:0040283	ORPHA:397946
10749	KIF1C	HP:0002066	Gait ataxia	HP:0040281	ORPHA:397946
10749	KIF1C	HP:0002066	Gait ataxia	7/7	OMIM:611302
10749	KIF1C	HP:0002072	Chorea	HP:0040282	ORPHA:397946
10749	KIF1C	HP:0002059	Cerebral atrophy	HP:0040284	ORPHA:397946
10749	KIF1C	HP:0002059	Cerebral atrophy	1/7	OMIM:611302
10749	KIF1C	HP:0003487	Babinski sign	HP:0040282	ORPHA:397946
10749	KIF1C	HP:0003487	Babinski sign	1/7	OMIM:611302
10749	KIF1C	HP:0002169	Clonus	HP:0040282	ORPHA:397946
10749	KIF1C	HP:0002380	Fasciculations	HP:0040281	ORPHA:397946
10749	KIF1C	HP:0002380	Fasciculations	-	OMIM:611302
10749	KIF1C	HP:0002395	Lower limb hyperreflexia	HP:0040281	ORPHA:397946
10749	KIF1C	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:397946
10749	KIF1C	HP:0003693	Distal amyotrophy	-	OMIM:611302
10749	KIF1C	HP:0002359	Frequent falls	HP:0040282	ORPHA:397946
10749	KIF1C	HP:0002359	Frequent falls	1/7	OMIM:611302
10749	KIF1C	HP:0003676	Progressive	-	OMIM:611302
10749	KIF1C	HP:0002317	Unsteady gait	HP:0040283	ORPHA:397946
10749	KIF1C	HP:0009830	Peripheral neuropathy	HP:0040284	ORPHA:397946
10749	KIF1C	HP:0003621	Juvenile onset	1/7	OMIM:611302
10749	KIF1C	HP:0000668	Hypodontia	HP:0040281	ORPHA:397946
10749	KIF1C	HP:0000666	Horizontal nystagmus	HP:0040282	ORPHA:397946
10749	KIF1C	HP:0000666	Horizontal nystagmus	5/6	OMIM:611302
10749	KIF1C	HP:0004322	Short stature	HP:0040282	ORPHA:397946
10749	KIF1C	HP:0011463	Childhood onset	6/7	OMIM:611302
10749	KIF1C	HP:0011448	Ankle clonus	1/6	OMIM:611302
10749	KIF1C	HP:0000252	Microcephaly	HP:0040282	ORPHA:397946
10749	KIF1C	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:397946
10749	KIF1C	HP:0011096	Peripheral demyelination	HP:0040282	ORPHA:397946
10749	KIF1C	HP:0030187	Titubation	HP:0040282	ORPHA:397946
10749	KIF1C	HP:0000473	Torticollis	HP:0040284	ORPHA:397946
10749	KIF1C	HP:0000473	Torticollis	1/7	OMIM:611302
10750	GRAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:618456
10750	GRAP	HP:0000407	Sensorineural hearing impairment	-	OMIM:618456
10755	GIPC1	HP:0002460	Distal muscle weakness	12/12	OMIM:618940
10755	GIPC1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:98897
10755	GIPC1	HP:0001283	Bulbar palsy	12/12	OMIM:618940
10755	GIPC1	HP:0001284	Areflexia	HP:0040283	ORPHA:98897
10755	GIPC1	HP:0008756	Bowing of the vocal cords	HP:0040282	ORPHA:98897
10755	GIPC1	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:98897
10755	GIPC1	HP:0003805	Rimmed vacuoles	12/12	OMIM:618940
10755	GIPC1	HP:0031162	Impaired oropharyngeal swallow response	HP:0040282	ORPHA:98897
10755	GIPC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618940
10755	GIPC1	HP:0000183	Tongue muscle weakness	HP:0040282	ORPHA:98897
10755	GIPC1	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040284	ORPHA:98897
10755	GIPC1	HP:0008959	Distal upper limb muscle weakness	HP:0040283	ORPHA:98897
10755	GIPC1	HP:0008963	Tibialis muscle weakness	HP:0040283	ORPHA:98897
10755	GIPC1	HP:0008944	Distal lower limb amyotrophy	HP:0040282	ORPHA:98897
10755	GIPC1	HP:0002705	High, narrow palate	HP:0040282	ORPHA:98897
10755	GIPC1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:98897
10755	GIPC1	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:98897
10755	GIPC1	HP:0002058	Myopathic facies	HP:0040282	ORPHA:98897
10755	GIPC1	HP:0003458	EMG: myopathic abnormalities	12/12	OMIM:618940
10755	GIPC1	HP:0002100	Recurrent aspiration pneumonia	HP:0040282	ORPHA:98897
10755	GIPC1	HP:0010550	Paraplegia	HP:0040284	ORPHA:98897
10755	GIPC1	HP:0003557	Increased variability in muscle fiber diameter	12/12	OMIM:618940
10755	GIPC1	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:98897
10755	GIPC1	HP:0008376	Nasal dysarthria	HP:0040281	ORPHA:98897
10755	GIPC1	HP:0430015	Abnormal morphology of musculature of pharynx	HP:0040282	ORPHA:98897
10755	GIPC1	HP:0007149	Distal upper limb amyotrophy	HP:0040282	ORPHA:98897
10755	GIPC1	HP:0009073	Progressive proximal muscle weakness	HP:0040283	ORPHA:98897
10755	GIPC1	HP:0009063	Progressive distal muscle weakness	HP:0040282	ORPHA:98897
10755	GIPC1	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:98897
10755	GIPC1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:98897
10755	GIPC1	HP:0011462	Young adult onset	-	OMIM:618940
10755	GIPC1	HP:0003236	Elevated circulating creatine kinase concentration	11/12	OMIM:618940
10755	GIPC1	HP:0100297	Increased endomysial connective tissue	12/12	OMIM:618940
10755	GIPC1	HP:0000218	High palate	HP:0040282	ORPHA:98897
10755	GIPC1	HP:0007838	Progressive ptosis	HP:0040281	ORPHA:98897
10755	GIPC1	HP:0001604	Vocal cord paresis	HP:0040282	ORPHA:98897
10755	GIPC1	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040283	ORPHA:98897
10755	GIPC1	HP:0000301	Abnormality of facial musculature	HP:0040281	ORPHA:98897
10755	GIPC1	HP:0030319	Weakness of facial musculature	HP:0040281	ORPHA:98897
10755	GIPC1	HP:0030319	Weakness of facial musculature	12/12	OMIM:618940
10755	GIPC1	HP:3000010	Abnormality of orbicularis oris muscle	HP:0040284	ORPHA:98897
10755	GIPC1	HP:0000408	Progressive sensorineural hearing impairment	HP:0040283	ORPHA:98897
10755	GIPC1	HP:3000005	Abnormality of masseter muscle	HP:0040283	ORPHA:98897
10755	GIPC1	HP:0001824	Weight loss	HP:0040281	ORPHA:98897
10755	GIPC1	HP:0000508	Ptosis	12/12	OMIM:618940
10755	GIPC1	HP:0000597	Ophthalmoparesis	HP:0040281	ORPHA:98897
10755	GIPC1	HP:0000590	Progressive external ophthalmoplegia	HP:0040281	ORPHA:98897
10755	GIPC1	HP:0012548	Fatty replacement of skeletal muscle	7/7	OMIM:618940
10755	GIPC1	HP:0000544	External ophthalmoplegia	11/12	OMIM:618940
10758	TRAF3IP2	HP:0100825	Cheilitis	HP:0040281	ORPHA:1334
10758	TRAF3IP2	HP:0100825	Cheilitis	1/2	OMIM:615527
10758	TRAF3IP2	HP:0001250	Seizure	HP:0040283	ORPHA:1334
10758	TRAF3IP2	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1334
10758	TRAF3IP2	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:1334
10758	TRAF3IP2	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:1334
10758	TRAF3IP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615527
10758	TRAF3IP2	HP:0000158	Macroglossia	1/2	OMIM:615527
10758	TRAF3IP2	HP:0000159	Abnormal lip morphology	HP:0040281	ORPHA:1334
10758	TRAF3IP2	HP:0000142	Abnormal vagina morphology	HP:0040282	ORPHA:1334
10758	TRAF3IP2	HP:0000153	Abnormality of the mouth	HP:0040281	ORPHA:1334
10758	TRAF3IP2	HP:0012115	Hepatitis	HP:0040283	ORPHA:1334
10758	TRAF3IP2	HP:0002719	Recurrent infections	HP:0040281	ORPHA:1334
10758	TRAF3IP2	HP:0002715	Abnormality of the immune system	HP:0040281	ORPHA:1334
10758	TRAF3IP2	HP:0002105	Hemoptysis	HP:0040283	ORPHA:1334
10758	TRAF3IP2	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:1334
10758	TRAF3IP2	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:1334
10758	TRAF3IP2	HP:0001051	Seborrheic dermatitis	2/2	OMIM:615527
10758	TRAF3IP2	HP:0200034	Papule	HP:0040282	ORPHA:1334
10758	TRAF3IP2	HP:0200042	Skin ulcer	HP:0040281	ORPHA:1334
10758	TRAF3IP2	HP:0010783	Erythema	HP:0040281	ORPHA:1334
10758	TRAF3IP2	HP:0003621	Juvenile onset	1/2	OMIM:615527
10758	TRAF3IP2	HP:0009098	Chronic oral candidiasis	2/2	OMIM:615527
10758	TRAF3IP2	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:1334
10758	TRAF3IP2	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:1334
10758	TRAF3IP2	HP:0004370	Abnormality of temperature regulation	HP:0040283	ORPHA:1334
10758	TRAF3IP2	HP:0012735	Cough	HP:0040283	ORPHA:1334
10758	TRAF3IP2	HP:0011463	Childhood onset	1/2	OMIM:615527
10758	TRAF3IP2	HP:0000790	Hematuria	HP:0040283	ORPHA:1334
10758	TRAF3IP2	HP:0000989	Pruritus	HP:0040283	ORPHA:1334
10758	TRAF3IP2	HP:0000988	Skin rash	HP:0040281	ORPHA:1334
10758	TRAF3IP2	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:1334
10758	TRAF3IP2	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:1334
10758	TRAF3IP2	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:1334
10758	TRAF3IP2	HP:0012203	Onychomycosis	1/2	OMIM:615527
10758	TRAF3IP2	HP:0030016	Dyspareunia	HP:0040282	ORPHA:1334
10758	TRAF3IP2	HP:0000498	Blepharitis	1/2	OMIM:615527
10758	TRAF3IP2	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:1334
10758	TRAF3IP2	HP:0001821	Broad nail	HP:0040281	ORPHA:1334
10758	TRAF3IP2	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1334
10765	KDM5B	HP:0001263	Global developmental delay	-	OMIM:618109
10765	KDM5B	HP:0002558	Supernumerary nipple	1/3	OMIM:618109
10765	KDM5B	HP:0000047	Hypospadias	1/3	OMIM:618109
10765	KDM5B	HP:0000023	Inguinal hernia	1/3	OMIM:618109
10765	KDM5B	HP:0000028	Cryptorchidism	1/3	OMIM:618109
10765	KDM5B	HP:0001338	Partial agenesis of the corpus callosum	1/3	OMIM:618109
10765	KDM5B	HP:0000007	Autosomal recessive inheritance	-	OMIM:618109
10765	KDM5B	HP:0002066	Gait ataxia	1/3	OMIM:618109
10765	KDM5B	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:618109
10765	KDM5B	HP:0003593	Infantile onset	1/3	OMIM:618109
10765	KDM5B	HP:0011968	Feeding difficulties	2/3	OMIM:618109
10765	KDM5B	HP:0002342	Intellectual disability, moderate	1/1	OMIM:618109
10765	KDM5B	HP:0002317	Unsteady gait	-	OMIM:618109
10765	KDM5B	HP:0009765	Low hanging columella	1/3	OMIM:618109
10765	KDM5B	HP:0003623	Neonatal onset	2/3	OMIM:618109
10765	KDM5B	HP:0011344	Severe global developmental delay	1/3	OMIM:618109
10765	KDM5B	HP:0011343	Moderate global developmental delay	2/3	OMIM:618109
10765	KDM5B	HP:0031936	Delayed ability to walk	-	OMIM:618109
10765	KDM5B	HP:0000750	Delayed speech and language development	-	OMIM:618109
10765	KDM5B	HP:0000718	Aggressive behavior	1/3	OMIM:618109
10765	KDM5B	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	1/3	OMIM:618109
10765	KDM5B	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	1/3	OMIM:618109
10765	KDM5B	HP:0000268	Dolichocephaly	1/3	OMIM:618109
10765	KDM5B	HP:0000233	Thin vermilion border	1/3	OMIM:618109
10765	KDM5B	HP:0000377	Abnormal pinna morphology	-	OMIM:618109
10765	KDM5B	HP:0001684	Secundum atrial septal defect	1/3	OMIM:618109
10765	KDM5B	HP:0000321	Square face	2/3	OMIM:618109
10765	KDM5B	HP:0000319	Smooth philtrum	1/3	OMIM:618109
10765	KDM5B	HP:0001631	Atrial septal defect	-	OMIM:618109
10765	KDM5B	HP:0000483	Astigmatism	1/3	OMIM:618109
10765	KDM5B	HP:0000486	Strabismus	1/3	OMIM:618109
10765	KDM5B	HP:0000494	Downslanted palpebral fissures	1/3	OMIM:618109
10765	KDM5B	HP:0000414	Bulbous nose	-	OMIM:618109
10765	KDM5B	HP:0000426	Prominent nasal bridge	1/3	OMIM:618109
10765	KDM5B	HP:0005487	Prominent metopic ridge	-	OMIM:618109
10765	KDM5B	HP:0000508	Ptosis	1/3	OMIM:618109
10765	KDM5B	HP:0000545	Myopia	2/3	OMIM:618109
10771	ZMYND11	HP:0001270	Motor delay	5/5	OMIM:616083
10771	ZMYND11	HP:0001256	Intellectual disability, mild	7/7	OMIM:616083
10771	ZMYND11	HP:0001252	Hypotonia	5/6	OMIM:616083
10771	ZMYND11	HP:0001263	Global developmental delay	-	OMIM:616083
10771	ZMYND11	HP:0002558	Supernumerary nipple	1/7	OMIM:616083
10771	ZMYND11	HP:0000006	Autosomal dominant inheritance	-	OMIM:616083
10771	ZMYND11	HP:0000154	Wide mouth	2/7	OMIM:616083
10771	ZMYND11	HP:0002069	Bilateral tonic-clonic seizure	1/7	OMIM:616083
10771	ZMYND11	HP:0003593	Infantile onset	-	OMIM:616083
10771	ZMYND11	HP:0000664	Synophrys	1/7	OMIM:616083
10771	ZMYND11	HP:0000750	Delayed speech and language development	6/7	OMIM:616083
10771	ZMYND11	HP:0000718	Aggressive behavior	3/7	OMIM:616083
10771	ZMYND11	HP:0012760	Reduced social responsiveness	5/7	OMIM:616083
10771	ZMYND11	HP:0000248	Brachycephaly	1/7	OMIM:616083
10771	ZMYND11	HP:0000396	Overfolded helix	1/7	OMIM:616083
10771	ZMYND11	HP:0000316	Hypertelorism	1/7	OMIM:616083
10771	ZMYND11	HP:0000508	Ptosis	2/7	OMIM:616083
10771	ZMYND11	HP:0000582	Upslanted palpebral fissure	1/7	OMIM:616083
10785	WDR4	HP:0001181	Adducted thumb	HP:0040283	ORPHA:2065
10785	WDR4	HP:0002410	Aqueductal stenosis	HP:0040283	ORPHA:2065
10785	WDR4	HP:0001276	Hypertonia	2/2	OMIM:618346
10785	WDR4	HP:0001276	Hypertonia	HP:0040283	ORPHA:2065
10785	WDR4	HP:0001272	Cerebellar atrophy	HP:0040284	OMIM:618347
10785	WDR4	HP:0001270	Motor delay	1/1	OMIM:618347
10785	WDR4	HP:0001250	Seizure	2/2	OMIM:618346
10785	WDR4	HP:0001250	Seizure	0/4	OMIM:618347
10785	WDR4	HP:0001250	Seizure	HP:0040282	ORPHA:2065
10785	WDR4	HP:0001252	Hypotonia	HP:0040283	ORPHA:2065
10785	WDR4	HP:0001249	Intellectual disability	5/5	OMIM:618347
10785	WDR4	HP:0001263	Global developmental delay	6/6	OMIM:618347
10785	WDR4	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2065
10785	WDR4	HP:0001257	Spasticity	1/2	OMIM:618346
10785	WDR4	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:2065
10785	WDR4	HP:0000097	Focal segmental glomerulosclerosis	2/4	OMIM:618347
10785	WDR4	HP:0000093	Proteinuria	3/4	OMIM:618347
10785	WDR4	HP:0000093	Proteinuria	HP:0040281	ORPHA:2065
10785	WDR4	HP:0001371	Flexion contracture	2/2	OMIM:618346
10785	WDR4	HP:0001348	Brisk reflexes	2/2	OMIM:618346
10785	WDR4	HP:0001344	Absent speech	2/2	OMIM:618346
10785	WDR4	HP:0001338	Partial agenesis of the corpus callosum	2/2	OMIM:618346
10785	WDR4	HP:0000007	Autosomal recessive inheritance	-	OMIM:618346
10785	WDR4	HP:0000007	Autosomal recessive inheritance	-	OMIM:618347
10785	WDR4	HP:0001302	Pachygyria	HP:0040282	ORPHA:2065
10785	WDR4	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:2065
10785	WDR4	HP:0000154	Wide mouth	2/3	OMIM:618347
10785	WDR4	HP:0000100	Nephrotic syndrome	3/4	OMIM:618347
10785	WDR4	HP:0000100	Nephrotic syndrome	HP:0040281	ORPHA:2065
10785	WDR4	HP:0000112	Nephropathy	HP:0040281	ORPHA:2065
10785	WDR4	HP:0002750	Delayed skeletal maturation	2/2	OMIM:618347
10785	WDR4	HP:0002714	Downturned corners of mouth	2/3	OMIM:618347
10785	WDR4	HP:0002036	Hiatus hernia	HP:0040282	ORPHA:2065
10785	WDR4	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:2065
10785	WDR4	HP:0002133	Status epilepticus	1/2	OMIM:618346
10785	WDR4	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2065
10785	WDR4	HP:0003593	Infantile onset	2/2	OMIM:618347
10785	WDR4	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:2065
10785	WDR4	HP:0003577	Congenital onset	2/2	OMIM:618346
10785	WDR4	HP:0009748	Large earlobe	1/2	OMIM:618346
10785	WDR4	HP:0100720	Hypoplasia of the ear cartilage	HP:0040281	ORPHA:2065
10785	WDR4	HP:0002360	Sleep abnormality	2/2	OMIM:618347
10785	WDR4	HP:0002353	EEG abnormality	2/2	OMIM:618346
10785	WDR4	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2065
10785	WDR4	HP:0010804	Tented upper lip vermilion	1/2	OMIM:618346
10785	WDR4	HP:0004209	Clinodactyly of the 5th finger	2/4	OMIM:618347
10785	WDR4	HP:0006855	Cerebellar vermis atrophy	2/2	OMIM:618347
10785	WDR4	HP:0009085	Alveolar ridge overgrowth	2/2	OMIM:618346
10785	WDR4	HP:0000648	Optic atrophy	1/2	OMIM:618346
10785	WDR4	HP:0000629	Periorbital fullness	2/3	OMIM:618347
10785	WDR4	HP:0000601	Hypotelorism	HP:0040283	ORPHA:2065
10785	WDR4	HP:0000691	Microdontia	2/2	OMIM:618347
10785	WDR4	HP:0004325	Decreased body weight	2/2	OMIM:618346
10785	WDR4	HP:0004325	Decreased body weight	2/2	OMIM:618347
10785	WDR4	HP:0004322	Short stature	2/2	OMIM:618346
10785	WDR4	HP:0004322	Short stature	2/2	OMIM:618347
10785	WDR4	HP:0004322	Short stature	HP:0040282	ORPHA:2065
10785	WDR4	HP:0003073	Hypoalbuminemia	HP:0040284	OMIM:618347
10785	WDR4	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:2065
10785	WDR4	HP:0031936	Delayed ability to walk	2/2	OMIM:618347
10785	WDR4	HP:0012736	Profound global developmental delay	2/2	OMIM:618346
10785	WDR4	HP:0000733	Motor stereotypy	2/2	OMIM:618347
10785	WDR4	HP:0000750	Delayed speech and language development	3/3	OMIM:618347
10785	WDR4	HP:0000749	Paroxysmal bursts of laughter	2/2	OMIM:618347
10785	WDR4	HP:0011461	Fetal onset	1/1	OMIM:618347
10785	WDR4	HP:0000821	Hypothyroidism	3/4	OMIM:618347
10785	WDR4	HP:0000824	Decreased response to growth hormone stimulation test	1/2	OMIM:618347
10785	WDR4	HP:0000286	Epicanthus	2/3	OMIM:618347
10785	WDR4	HP:0005108	Abnormal intervertebral disk morphology	HP:0040283	ORPHA:2065
10785	WDR4	HP:0000252	Microcephaly	2/2	OMIM:618346
10785	WDR4	HP:0000252	Microcephaly	7/7	OMIM:618347
10785	WDR4	HP:0000252	Microcephaly	HP:0040281	ORPHA:2065
10785	WDR4	HP:0000218	High palate	-	OMIM:618347
10785	WDR4	HP:0001508	Failure to thrive	2/2	OMIM:618346
10785	WDR4	HP:0001518	Small for gestational age	2/2	OMIM:618346
10785	WDR4	HP:0001511	Intrauterine growth retardation	2/2	OMIM:618346
10785	WDR4	HP:0001511	Intrauterine growth retardation	1/1	OMIM:618347
10785	WDR4	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2065
10785	WDR4	HP:0001510	Growth delay	7/7	OMIM:618347
10785	WDR4	HP:0000348	High forehead	2/2	OMIM:618346
10785	WDR4	HP:0000347	Micrognathia	HP:0040283	ORPHA:2065
10785	WDR4	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2065
10785	WDR4	HP:0000322	Short philtrum	2/2	OMIM:618346
10785	WDR4	HP:0001622	Premature birth	HP:0040282	ORPHA:2065
10785	WDR4	HP:0000400	Macrotia	HP:0040282	ORPHA:2065
10785	WDR4	HP:0005280	Depressed nasal bridge	2/2	OMIM:618346
10785	WDR4	HP:0000463	Anteverted nares	2/2	OMIM:618347
10785	WDR4	HP:0000520	Proptosis	2/2	OMIM:618346
10801	SEPTIN9	HP:0001159	Syndactyly	HP:0040283	ORPHA:2901
10801	SEPTIN9	HP:0001271	Polyneuropathy	HP:0040281	ORPHA:2901
10801	SEPTIN9	HP:0001265	Hyporeflexia	HP:0040283	OMIM:162100
10801	SEPTIN9	HP:0001324	Muscle weakness	-	OMIM:162100
10801	SEPTIN9	HP:0000006	Autosomal dominant inheritance	-	OMIM:162100
10801	SEPTIN9	HP:0033748	Hypoesthesia	HP:0040283	ORPHA:2901
10801	SEPTIN9	HP:0000193	Bifid uvula	HP:0040283	ORPHA:2901
10801	SEPTIN9	HP:0000160	Narrow mouth	-	OMIM:162100
10801	SEPTIN9	HP:0000160	Narrow mouth	HP:0040283	ORPHA:2901
10801	SEPTIN9	HP:0000175	Cleft palate	HP:0040283	ORPHA:2901
10801	SEPTIN9	HP:0000175	Cleft palate	-	OMIM:162100
10801	SEPTIN9	HP:0005989	Redundant neck skin	HP:0040283	ORPHA:2901
10801	SEPTIN9	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:2901
10801	SEPTIN9	HP:0033142	Long nasal bridge	-	OMIM:162100
10801	SEPTIN9	HP:0003484	Upper limb muscle weakness	HP:0040281	ORPHA:2901
10801	SEPTIN9	HP:0003457	EMG abnormality	HP:0040281	ORPHA:2901
10801	SEPTIN9	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:2901
10801	SEPTIN9	HP:0003401	Paresthesia	HP:0040282	ORPHA:2901
10801	SEPTIN9	HP:0001063	Acrocyanosis	HP:0040283	ORPHA:2901
10801	SEPTIN9	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:2901
10801	SEPTIN9	HP:0003691	Scapular winging	HP:0040282	ORPHA:2901
10801	SEPTIN9	HP:0009830	Peripheral neuropathy	-	OMIM:162100
10801	SEPTIN9	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:2901
10801	SEPTIN9	HP:0000601	Hypotelorism	-	OMIM:162100
10801	SEPTIN9	HP:0004322	Short stature	-	OMIM:162100
10801	SEPTIN9	HP:0004322	Short stature	HP:0040283	ORPHA:2901
10801	SEPTIN9	HP:0012745	Short palpebral fissure	HP:0040283	ORPHA:2901
10801	SEPTIN9	HP:0000764	Peripheral axonal degeneration	-	OMIM:162100
10801	SEPTIN9	HP:0009129	Upper limb amyotrophy	HP:0040281	ORPHA:2901
10801	SEPTIN9	HP:0000912	Sprengel anomaly	HP:0040282	ORPHA:2901
10801	SEPTIN9	HP:0040078	Axonal degeneration	-	OMIM:162100
10801	SEPTIN9	HP:0003202	Skeletal muscle atrophy	-	OMIM:162100
10801	SEPTIN9	HP:0045054	Brachial plexus neuropathy	-	OMIM:162100
10801	SEPTIN9	HP:0000286	Epicanthus	HP:0040283	ORPHA:2901
10801	SEPTIN9	HP:0000286	Epicanthus	-	OMIM:162100
10801	SEPTIN9	HP:0002829	Arthralgia	HP:0040281	ORPHA:2901
10801	SEPTIN9	HP:0000369	Low-set ears	-	OMIM:162100
10801	SEPTIN9	HP:0000311	Round face	HP:0040283	ORPHA:2901
10801	SEPTIN9	HP:0000324	Facial asymmetry	-	OMIM:162100
10801	SEPTIN9	HP:0005280	Depressed nasal bridge	-	OMIM:162100
10801	SEPTIN9	HP:0000490	Deeply set eye	-	OMIM:162100
10801	SEPTIN9	HP:0000508	Ptosis	-	OMIM:162100
10801	SEPTIN9	HP:0000582	Upslanted palpebral fissure	-	OMIM:162100
10801	SEPTIN9	HP:0000581	Blepharophimosis	-	OMIM:162100
10801	SEPTIN9	HP:0012513	Upper limb pain	HP:0040281	ORPHA:2901
10804	GJB6	HP:0001155	Abnormality of the hand	-	OMIM:129500
10804	GJB6	HP:0003765	Psoriasiform dermatitis	HP:0040283	ORPHA:477
10804	GJB6	HP:0008625	Severe sensorineural hearing impairment	HP:0040282	ORPHA:477
10804	GJB6	HP:0008615	Adult onset sensorineural hearing impairment	-	OMIM:612643
10804	GJB6	HP:0100806	Sepsis	HP:0040284	ORPHA:477
10804	GJB6	HP:0100838	Recurrent cutaneous abscess formation	HP:0040284	ORPHA:477
10804	GJB6	HP:0002555	Absent pubic hair	HP:0040283	ORPHA:189
10804	GJB6	HP:0002555	Absent pubic hair	-	OMIM:129500
10804	GJB6	HP:0007431	Congenital ichthyosiform erythroderma	HP:0040282	ORPHA:477
10804	GJB6	HP:0007418	Alopecia totalis	-	OMIM:129500
10804	GJB6	HP:0010984	Digenic inheritance	-	OMIM:220290
10804	GJB6	HP:0003828	Variable expressivity	-	OMIM:129500
10804	GJB6	HP:0001369	Arthritis	HP:0040283	ORPHA:477
10804	GJB6	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:477
10804	GJB6	HP:0007502	Follicular hyperkeratosis	HP:0040282	ORPHA:477
10804	GJB6	HP:0008788	Delayed pubic bone ossification	HP:0040284	ORPHA:477
10804	GJB6	HP:0002673	Coxa valga	HP:0040284	ORPHA:477
10804	GJB6	HP:0000007	Autosomal recessive inheritance	-	OMIM:612645
10804	GJB6	HP:0000007	Autosomal recessive inheritance	-	OMIM:220290
10804	GJB6	HP:0000006	Autosomal dominant inheritance	-	OMIM:129500
10804	GJB6	HP:0000006	Autosomal dominant inheritance	-	OMIM:612643
10804	GJB6	HP:0001305	Dandy-Walker malformation	HP:0040284	ORPHA:477
10804	GJB6	HP:0001320	Cerebellar vermis hypoplasia	HP:0040284	ORPHA:477
10804	GJB6	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:477
10804	GJB6	HP:0000164	Abnormality of the dentition	-	OMIM:129500
10804	GJB6	HP:0031288	Cobblestone-like hyperkeratosis	HP:0040283	ORPHA:189
10804	GJB6	HP:0001419	X-linked recessive inheritance	-	OMIM:304400
10804	GJB6	HP:0031250	Lip fissure	HP:0040284	ORPHA:477
10804	GJB6	HP:0008138	Equinus calcaneus	HP:0040284	ORPHA:477
10804	GJB6	HP:0004779	Brittle scalp hair	HP:0040283	ORPHA:189
10804	GJB6	HP:0011911	Abnormal metacarpophalangeal joint morphology	HP:0040283	ORPHA:189
10804	GJB6	HP:0002164	Nail dysplasia	-	OMIM:129500
10804	GJB6	HP:0011859	Punctate keratitis	HP:0040282	ORPHA:477
10804	GJB6	HP:0002223	Absent eyebrow	HP:0040283	ORPHA:189
10804	GJB6	HP:0002221	Absent axillary hair	HP:0040283	ORPHA:189
10804	GJB6	HP:0002221	Absent axillary hair	-	OMIM:129500
10804	GJB6	HP:0002217	Slow-growing hair	-	OMIM:129500
10804	GJB6	HP:0002215	Sparse axillary hair	HP:0040283	ORPHA:189
10804	GJB6	HP:0002225	Sparse pubic hair	HP:0040283	ORPHA:189
10804	GJB6	HP:0002213	Fine hair	-	OMIM:129500
10804	GJB6	HP:0002213	Fine hair	HP:0040283	ORPHA:189
10804	GJB6	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:189
10804	GJB6	HP:0008404	Nail dystrophy	-	OMIM:129500
10804	GJB6	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:477
10804	GJB6	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:189
10804	GJB6	HP:0002299	Brittle hair	-	OMIM:129500
10804	GJB6	HP:0100759	Clubbing of fingers	HP:0040283	ORPHA:189
10804	GJB6	HP:0008383	Slow-growing nails	HP:0040283	ORPHA:189
10804	GJB6	HP:0100648	Neoplasm of the tongue	HP:0040284	ORPHA:477
10804	GJB6	HP:0200020	Corneal erosion	HP:0040282	ORPHA:477
10804	GJB6	HP:0025092	Epidermal acanthosis	HP:0040282	ORPHA:477
10804	GJB6	HP:0200036	Skin nodule	HP:0040284	ORPHA:477
10804	GJB6	HP:0200035	Skin plaque	HP:0040282	ORPHA:477
10804	GJB6	HP:0008527	Congenital sensorineural hearing impairment	3/8	OMIM:304400
10804	GJB6	HP:0025084	Folliculitis	HP:0040283	ORPHA:477
10804	GJB6	HP:0009830	Peripheral neuropathy	HP:0040284	ORPHA:477
10804	GJB6	HP:0001097	Keratoconjunctivitis sicca	HP:0040282	ORPHA:477
10804	GJB6	HP:0001072	Thickened skin	HP:0040283	ORPHA:189
10804	GJB6	HP:0032107	Limbal stem cell deficiency	HP:0040282	ORPHA:477
10804	GJB6	HP:0005599	Hypopigmentation of hair	HP:0040283	ORPHA:189
10804	GJB6	HP:0000613	Photophobia	HP:0040282	ORPHA:477
10804	GJB6	HP:0000613	Photophobia	-	OMIM:129500
10804	GJB6	HP:0011370	Recurrent cutaneous fungal infections	HP:0040283	ORPHA:477
10804	GJB6	HP:0000653	Sparse eyelashes	-	OMIM:129500
10804	GJB6	HP:0000653	Sparse eyelashes	HP:0040282	ORPHA:477
10804	GJB6	HP:0000653	Sparse eyelashes	HP:0040282	ORPHA:189
10804	GJB6	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:477
10804	GJB6	HP:0004322	Short stature	-	OMIM:129500
10804	GJB6	HP:0003065	Patellar hypoplasia	HP:0040284	ORPHA:477
10804	GJB6	HP:0011496	Corneal neovascularization	HP:0040281	ORPHA:477
10804	GJB6	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:477
10804	GJB6	HP:0004458	Dilatated internal auditory canal	4/4	OMIM:304400
10804	GJB6	HP:0012844	Trichilemmoma	HP:0040284	ORPHA:477
10804	GJB6	HP:0004552	Scarring alopecia of scalp	HP:0040282	ORPHA:477
10804	GJB6	HP:0004528	Generalized hypotrichosis	HP:0040283	ORPHA:189
10804	GJB6	HP:0045059	Hyperkeratotic papule	HP:0040283	ORPHA:189
10804	GJB6	HP:0045075	Sparse eyebrow	-	OMIM:129500
10804	GJB6	HP:0045075	Sparse eyebrow	HP:0040282	ORPHA:477
10804	GJB6	HP:0045075	Sparse eyebrow	HP:0040282	ORPHA:189
10804	GJB6	HP:0030839	Knee pain	HP:0040284	ORPHA:477
10804	GJB6	HP:0000972	Palmoplantar hyperkeratosis	HP:0040282	ORPHA:189
10804	GJB6	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:129500
10804	GJB6	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:477
10804	GJB6	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:189
10804	GJB6	HP:0000953	Hyperpigmentation of the skin	-	OMIM:129500
10804	GJB6	HP:0000953	Hyperpigmentation of the skin	HP:0040283	ORPHA:189
10804	GJB6	HP:0000968	Ectodermal dysplasia	-	OMIM:129500
10804	GJB6	HP:0000966	Hypohidrosis	HP:0040283	ORPHA:477
10804	GJB6	HP:0008070	Sparse hair	HP:0040282	ORPHA:477
10804	GJB6	HP:0008070	Sparse hair	HP:0040282	ORPHA:189
10804	GJB6	HP:0040154	Acne inversa	HP:0040284	ORPHA:477
10804	GJB6	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:477
10804	GJB6	HP:0040189	Scaling skin	HP:0040282	ORPHA:477
10804	GJB6	HP:0008038	Aplastic/hypoplastic lacrimal glands	HP:0040283	ORPHA:477
10804	GJB6	HP:0001596	Alopecia	-	OMIM:129500
10804	GJB6	HP:0001596	Alopecia	HP:0040282	ORPHA:189
10804	GJB6	HP:0006380	Knee flexion contracture	HP:0040284	ORPHA:477
10804	GJB6	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:477
10804	GJB6	HP:0000230	Gingivitis	HP:0040284	ORPHA:477
10804	GJB6	HP:0002860	Squamous cell carcinoma	HP:0040284	ORPHA:477
10804	GJB6	HP:0001508	Failure to thrive	HP:0040283	ORPHA:477
10804	GJB6	HP:0000399	Prelingual sensorineural hearing impairment	HP:0040282	ORPHA:477
10804	GJB6	HP:0000381	Stapes ankylosis	-	OMIM:304400
10804	GJB6	HP:0000365	Hearing impairment	HP:0040283	ORPHA:189
10804	GJB6	HP:0000365	Hearing impairment	-	OMIM:612645
10804	GJB6	HP:0025610	Posterior blepharitis	HP:0040283	ORPHA:477
10804	GJB6	HP:0030318	Angular cheilitis	HP:0040283	ORPHA:477
10804	GJB6	HP:0000498	Blepharitis	-	OMIM:129500
10804	GJB6	HP:0005328	Progeroid facial appearance	HP:0040282	ORPHA:477
10804	GJB6	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:304400
10804	GJB6	HP:0000407	Sensorineural hearing impairment	-	OMIM:220290
10804	GJB6	HP:0000405	Conductive hearing impairment	-	OMIM:304400
10804	GJB6	HP:0000486	Strabismus	-	OMIM:129500
10804	GJB6	HP:0000491	Keratitis	HP:0040282	ORPHA:477
10804	GJB6	HP:0001792	Small nail	-	OMIM:129500
10804	GJB6	HP:0001792	Small nail	HP:0040283	ORPHA:189
10804	GJB6	HP:0001798	Anonychia	HP:0040283	ORPHA:189
10804	GJB6	HP:0001751	Abnormal vestibular function	HP:0040283	OMIM:612645
10804	GJB6	HP:0001751	Abnormal vestibular function	HP:0040283	OMIM:220290
10804	GJB6	HP:0000410	Mixed hearing impairment	3/8	OMIM:304400
10804	GJB6	HP:0001760	Abnormal foot morphology	-	OMIM:129500
10804	GJB6	HP:0005406	Recurrent bacterial skin infections	HP:0040283	ORPHA:477
10804	GJB6	HP:0005401	Recurrent candida infections	HP:0040283	ORPHA:477
10804	GJB6	HP:0000518	Cataract	-	OMIM:129500
10804	GJB6	HP:0000509	Conjunctivitis	-	OMIM:129500
10804	GJB6	HP:0000509	Conjunctivitis	HP:0040282	ORPHA:477
10804	GJB6	HP:0001805	Onychogryphosis	HP:0040283	ORPHA:477
10804	GJB6	HP:0001806	Onycholysis	-	OMIM:129500
10804	GJB6	HP:0011220	Prominent forehead	HP:0040284	ORPHA:477
10804	GJB6	HP:0000572	Visual loss	HP:0040282	ORPHA:477
10806	SDCCAG8	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
10806	SDCCAG8	HP:0003774	Stage 5 chronic kidney disease	2/2	OMIM:615993
10806	SDCCAG8	HP:0003774	Stage 5 chronic kidney disease	HP:0040281	ORPHA:3156
10806	SDCCAG8	HP:0001256	Intellectual disability, mild	6/19	OMIM:613615
10806	SDCCAG8	HP:0001250	Seizure	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0001251	Ataxia	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0001251	Ataxia	HP:0040283	ORPHA:3156
10806	SDCCAG8	HP:0001249	Intellectual disability	2/2	OMIM:615993
10806	SDCCAG8	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3156
10806	SDCCAG8	HP:0001263	Global developmental delay	2/2	OMIM:615993
10806	SDCCAG8	HP:0001257	Spasticity	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0000083	Renal insufficiency	-	OMIM:615993
10806	SDCCAG8	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000090	Nephronophthisis	20/20	OMIM:613615
10806	SDCCAG8	HP:0000090	Nephronophthisis	HP:0040282	ORPHA:3156
10806	SDCCAG8	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000007	Autosomal recessive inheritance	-	OMIM:615993
10806	SDCCAG8	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
10806	SDCCAG8	HP:0000007	Autosomal recessive inheritance	-	OMIM:613615
10806	SDCCAG8	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
10806	SDCCAG8	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:3156
10806	SDCCAG8	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
10806	SDCCAG8	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
10806	SDCCAG8	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0000135	Hypogonadism	-	OMIM:615993
10806	SDCCAG8	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
10806	SDCCAG8	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
10806	SDCCAG8	HP:0007663	Reduced visual acuity	2/2	OMIM:615993
10806	SDCCAG8	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000110	Renal dysplasia	-	OMIM:615993
10806	SDCCAG8	HP:0000107	Renal cyst	-	OMIM:615993
10806	SDCCAG8	HP:0000104	Renal agenesis	-	OMIM:615993
10806	SDCCAG8	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
10806	SDCCAG8	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0100543	Cognitive impairment	-	OMIM:615993
10806	SDCCAG8	HP:0002098	Respiratory distress	-	OMIM:615993
10806	SDCCAG8	HP:0002099	Asthma	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0010442	Polydactyly	0/2	OMIM:615993
10806	SDCCAG8	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0008209	Premature ovarian insufficiency	HP:0040282	ORPHA:3156
10806	SDCCAG8	HP:0010579	Cone-shaped epiphysis	HP:0040283	ORPHA:3156
10806	SDCCAG8	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
10806	SDCCAG8	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0002205	Recurrent respiratory infections	1/2	OMIM:615993
10806	SDCCAG8	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0011950	Bronchiolitis	-	OMIM:615993
10806	SDCCAG8	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0003621	Juvenile onset	8/19	OMIM:180100
10806	SDCCAG8	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0012622	Chronic kidney disease	HP:0040281	ORPHA:3156
10806	SDCCAG8	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0000618	Blindness	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0000613	Photophobia	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0000691	Microdontia	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0000662	Nyctalopia	26/28	OMIM:180100
10806	SDCCAG8	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0004322	Short stature	HP:0040281	ORPHA:3156
10806	SDCCAG8	HP:0004322	Short stature	2/2	OMIM:615993
10806	SDCCAG8	HP:0004322	Short stature	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:3156
10806	SDCCAG8	HP:0000739	Anxiety	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000736	Short attention span	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000716	Depression	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0000717	Autism	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0011463	Childhood onset	3/19	OMIM:180100
10806	SDCCAG8	HP:0011462	Young adult onset	8/19	OMIM:180100
10806	SDCCAG8	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
10806	SDCCAG8	HP:0000789	Infertility	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
10806	SDCCAG8	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000822	Hypertension	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0000822	Hypertension	HP:0040281	ORPHA:3156
10806	SDCCAG8	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0003241	External genital hypoplasia	-	OMIM:615993
10806	SDCCAG8	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:3156
10806	SDCCAG8	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
10806	SDCCAG8	HP:0000218	High palate	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0001513	Obesity	HP:0040281	ORPHA:110
10806	SDCCAG8	HP:0001513	Obesity	2/2	OMIM:615993
10806	SDCCAG8	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
10806	SDCCAG8	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000388	Otitis media	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000365	Hearing impairment	-	OMIM:615993
10806	SDCCAG8	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
10806	SDCCAG8	HP:0000403	Recurrent otitis media	-	OMIM:615993
10806	SDCCAG8	HP:0000400	Macrotia	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000486	Strabismus	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000470	Short neck	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000518	Cataract	HP:0040283	ORPHA:110
10806	SDCCAG8	HP:0000518	Cataract	HP:0040283	ORPHA:3156
10806	SDCCAG8	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
10806	SDCCAG8	HP:0000510	Rod-cone dystrophy	2/2	OMIM:615993
10806	SDCCAG8	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:3156
10806	SDCCAG8	HP:0000505	Visual impairment	HP:0040281	ORPHA:3156
10806	SDCCAG8	HP:0000575	Scotoma	5/18	OMIM:180100
10806	SDCCAG8	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
10806	SDCCAG8	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:3156
10806	SDCCAG8	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
10806	SDCCAG8	HP:0000546	Retinal degeneration	-	OMIM:615993
10806	SDCCAG8	HP:0000546	Retinal degeneration	-	OMIM:613615
10806	SDCCAG8	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
10806	SDCCAG8	HP:0000543	Optic disc pallor	1/1	OMIM:180100
10806	SDCCAG8	HP:0000545	Myopia	-	OMIM:180100
10815	CPLX1	HP:0001177	Preaxial hand polydactyly	HP:0040282	ORPHA:280
10815	CPLX1	HP:0001177	Preaxial hand polydactyly	HP:0040283	OMIM:194190
10815	CPLX1	HP:0001171	Split hand	HP:0040282	ORPHA:280
10815	CPLX1	HP:0001171	Split hand	HP:0040283	OMIM:194190
10815	CPLX1	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:280
10815	CPLX1	HP:0025100	Abnormal hippocampus morphology	HP:0040283	ORPHA:352582
10815	CPLX1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040282	ORPHA:352582
10815	CPLX1	HP:0009918	Ectopia pupillae	-	OMIM:194190
10815	CPLX1	HP:0009890	High anterior hairline	HP:0040281	ORPHA:280
10815	CPLX1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:280
10815	CPLX1	HP:0010864	Intellectual disability, severe	-	OMIM:194190
10815	CPLX1	HP:0008551	Microtia	HP:0040281	ORPHA:280
10815	CPLX1	HP:0002421	Poor head control	1/3	OMIM:617976
10815	CPLX1	HP:0003745	Sporadic	-	OMIM:194190
10815	CPLX1	HP:0001290	Generalized hypotonia	HP:0040281	OMIM:194190
10815	CPLX1	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:352582
10815	CPLX1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280
10815	CPLX1	HP:0001274	Agenesis of corpus callosum	HP:0040283	OMIM:194190
10815	CPLX1	HP:0001270	Motor delay	HP:0040283	ORPHA:352582
10815	CPLX1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:352582
10815	CPLX1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:352582
10815	CPLX1	HP:0001250	Seizure	HP:0040282	OMIM:194190
10815	CPLX1	HP:0001250	Seizure	HP:0040281	ORPHA:280
10815	CPLX1	HP:0001250	Seizure	HP:0040281	ORPHA:352582
10815	CPLX1	HP:0001250	Seizure	3/3	OMIM:617976
10815	CPLX1	HP:0001252	Hypotonia	HP:0040281	ORPHA:280
10815	CPLX1	HP:0001252	Hypotonia	3/3	OMIM:617976
10815	CPLX1	HP:0001251	Ataxia	HP:0040283	ORPHA:352582
10815	CPLX1	HP:0001251	Ataxia	HP:0040281	ORPHA:280
10815	CPLX1	HP:0001249	Intellectual disability	3/3	OMIM:617976
10815	CPLX1	HP:0001260	Dysarthria	HP:0040282	ORPHA:352582
10815	CPLX1	HP:0001263	Global developmental delay	HP:0040281	OMIM:194190
10815	CPLX1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:280
10815	CPLX1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:352582
10815	CPLX1	HP:0001263	Global developmental delay	3/3	OMIM:617976
10815	CPLX1	HP:0007385	Aplasia cutis congenita of scalp	HP:0040282	ORPHA:280
10815	CPLX1	HP:0007385	Aplasia cutis congenita of scalp	HP:0040283	OMIM:194190
10815	CPLX1	HP:0032388	Periventricular nodular heterotopia	HP:0040283	ORPHA:352582
10815	CPLX1	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:280
10815	CPLX1	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:352582
10815	CPLX1	HP:0002540	Inability to walk	3/3	OMIM:617976
10815	CPLX1	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:280
10815	CPLX1	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:194190
10815	CPLX1	HP:0002553	Highly arched eyebrow	2/3	OMIM:617976
10815	CPLX1	HP:0025373	Interictal EEG abnormality	HP:0040282	ORPHA:352582
10815	CPLX1	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:280
10815	CPLX1	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:280
10815	CPLX1	HP:0000078	Abnormality of the genital system	HP:0040283	ORPHA:280
10815	CPLX1	HP:0001385	Hip dysplasia	HP:0040283	OMIM:194190
10815	CPLX1	HP:0000047	Hypospadias	HP:0040281	ORPHA:280
10815	CPLX1	HP:0000047	Hypospadias	50%	OMIM:194190
10815	CPLX1	HP:0001362	Calvarial skull defect	HP:0040282	ORPHA:280
10815	CPLX1	HP:0000028	Cryptorchidism	50%	OMIM:194190
10815	CPLX1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:280
10815	CPLX1	HP:0008850	Severe postnatal growth retardation	HP:0040282	OMIM:194190
10815	CPLX1	HP:0008830	Hypoplastic pubic ramus	HP:0040282	ORPHA:280
10815	CPLX1	HP:0001331	Absent septum pellucidum	-	OMIM:194190
10815	CPLX1	HP:0001344	Absent speech	3/3	OMIM:617976
10815	CPLX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617976
10815	CPLX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:194190
10815	CPLX1	HP:0002650	Scoliosis	HP:0040282	OMIM:194190
10815	CPLX1	HP:0002650	Scoliosis	HP:0040282	ORPHA:280
10815	CPLX1	HP:0000188	Short upper lip	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000159	Abnormal lip morphology	HP:0040281	ORPHA:280
10815	CPLX1	HP:0000175	Cleft palate	HP:0040283	ORPHA:280
10815	CPLX1	HP:0000175	Cleft palate	-	OMIM:194190
10815	CPLX1	HP:0000175	Cleft palate	1/3	OMIM:617976
10815	CPLX1	HP:0000153	Abnormality of the mouth	HP:0040281	ORPHA:280
10815	CPLX1	HP:0000151	Aplasia of the uterus	HP:0040283	ORPHA:280
10815	CPLX1	HP:0000151	Aplasia of the uterus	HP:0040283	OMIM:194190
10815	CPLX1	HP:0000119	Abnormality of the genitourinary system	25%	OMIM:194190
10815	CPLX1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:280
10815	CPLX1	HP:0002750	Delayed skeletal maturation	-	OMIM:194190
10815	CPLX1	HP:0002719	Recurrent infections	2/3	OMIM:617976
10815	CPLX1	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:280
10815	CPLX1	HP:0002714	Downturned corners of mouth	HP:0040281	ORPHA:280
10815	CPLX1	HP:0002714	Downturned corners of mouth	HP:0040282	OMIM:194190
10815	CPLX1	HP:0002720	Decreased circulating IgA concentration	HP:0040282	ORPHA:280
10815	CPLX1	HP:0002721	Immunodeficiency	69%	OMIM:194190
10815	CPLX1	HP:0002020	Gastroesophageal reflux	-	OMIM:194190
10815	CPLX1	HP:0003363	Abdominal situs inversus	HP:0040283	ORPHA:280
10815	CPLX1	HP:0002011	Morphological central nervous system abnormality	33%	OMIM:194190
10815	CPLX1	HP:0002007	Frontal bossing	HP:0040281	ORPHA:280
10815	CPLX1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:280
10815	CPLX1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	OMIM:194190
10815	CPLX1	HP:0011800	Midface retrusion	2/3	OMIM:617976
10815	CPLX1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:352582
10815	CPLX1	HP:0002069	Bilateral tonic-clonic seizure	3/3	OMIM:617976
10815	CPLX1	HP:0002057	Prominent glabella	HP:0040282	OMIM:194190
10815	CPLX1	HP:0010464	Streak ovary	HP:0040283	ORPHA:280
10815	CPLX1	HP:0002144	Tethered cord	HP:0040282	ORPHA:280
10815	CPLX1	HP:0002144	Tethered cord	HP:0040283	OMIM:194190
10815	CPLX1	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280
10815	CPLX1	HP:0002123	Generalized myoclonic seizure	3/3	OMIM:617976
10815	CPLX1	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:352582
10815	CPLX1	HP:0002120	Cerebral cortical atrophy	0/3	OMIM:617976
10815	CPLX1	HP:0002119	Ventriculomegaly	-	OMIM:194190
10815	CPLX1	HP:0004794	Malrotation of small bowel	-	OMIM:194190
10815	CPLX1	HP:0002197	Generalized-onset seizure	2/3	OMIM:617976
10815	CPLX1	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:280
10815	CPLX1	HP:0002162	Low posterior hairline	-	OMIM:194190
10815	CPLX1	HP:0011863	Abnormal sternal ossification	-	OMIM:194190
10815	CPLX1	HP:0033258	Sudden unexpected death in epilepsy	1/3	OMIM:617976
10815	CPLX1	HP:0003593	Infantile onset	3/3	OMIM:617976
10815	CPLX1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:280
10815	CPLX1	HP:0100790	Hernia	HP:0040283	ORPHA:280
10815	CPLX1	HP:0200134	Epileptic encephalopathy	3/3	OMIM:617976
10815	CPLX1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:280
10815	CPLX1	HP:0011968	Feeding difficulties	1/3	OMIM:617976
10815	CPLX1	HP:0002389	Cavum septum pellucidum	-	OMIM:194190
10815	CPLX1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:280
10815	CPLX1	HP:0001028	Hemangioma	HP:0040282	ORPHA:280
10815	CPLX1	HP:0001028	Hemangioma	HP:0040282	OMIM:194190
10815	CPLX1	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:352582
10815	CPLX1	HP:0002353	EEG abnormality	90%	OMIM:194190
10815	CPLX1	HP:0010818	Generalized tonic seizure	1/3	OMIM:617976
10815	CPLX1	HP:0001080	Biliary tract abnormality	HP:0040283	OMIM:194190
10815	CPLX1	HP:0007109	Periventricular cysts	-	OMIM:194190
10815	CPLX1	HP:0009778	Short thumb	HP:0040282	ORPHA:280
10815	CPLX1	HP:0009778	Short thumb	HP:0040283	OMIM:194190
10815	CPLX1	HP:0002312	Clumsiness	HP:0040283	ORPHA:352582
10815	CPLX1	HP:0006889	Intellectual disability, borderline	HP:0040283	ORPHA:352582
10815	CPLX1	HP:0006891	Thick cerebral cortex	HP:0040282	ORPHA:352582
10815	CPLX1	HP:0000639	Nystagmus	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000639	Nystagmus	HP:0040283	ORPHA:280
10815	CPLX1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:280
10815	CPLX1	HP:0000647	Sclerocornea	HP:0040283	ORPHA:280
10815	CPLX1	HP:0000643	Blepharospasm	HP:0040283	ORPHA:352582
10815	CPLX1	HP:0000612	Iris coloboma	HP:0040282	ORPHA:280
10815	CPLX1	HP:0000612	Iris coloboma	30%	OMIM:194190
10815	CPLX1	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:280
10815	CPLX1	HP:0000679	Taurodontia	HP:0040282	ORPHA:280
10815	CPLX1	HP:0000668	Hypodontia	HP:0040281	ORPHA:280
10815	CPLX1	HP:0000668	Hypodontia	HP:0040282	OMIM:194190
10815	CPLX1	HP:0004322	Short stature	HP:0040282	OMIM:194190
10815	CPLX1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:280
10815	CPLX1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	OMIM:194190
10815	CPLX1	HP:0009193	Metacarpal pseudoepiphysis	-	OMIM:194190
10815	CPLX1	HP:0031936	Delayed ability to walk	3/3	OMIM:617976
10815	CPLX1	HP:0100021	Cerebral palsy	1/3	OMIM:617976
10815	CPLX1	HP:0100022	Abnormality of movement	HP:0040283	ORPHA:280
10815	CPLX1	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:280
10815	CPLX1	HP:0000733	Motor stereotypy	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:352582
10815	CPLX1	HP:0010109	Short hallux	HP:0040282	ORPHA:280
10815	CPLX1	HP:0010109	Short hallux	HP:0040283	OMIM:194190
10815	CPLX1	HP:0000776	Congenital diaphragmatic hernia	HP:0040282	ORPHA:280
10815	CPLX1	HP:0003199	Decreased muscle mass	HP:0040281	OMIM:194190
10815	CPLX1	HP:0000925	Abnormality of the vertebral column	HP:0040282	ORPHA:280
10815	CPLX1	HP:0000902	Rib fusion	HP:0040282	ORPHA:280
10815	CPLX1	HP:0000902	Rib fusion	HP:0040282	OMIM:194190
10815	CPLX1	HP:0004484	Craniofacial asymmetry	HP:0040282	OMIM:194190
10815	CPLX1	HP:0004467	Preauricular pit	HP:0040282	ORPHA:280
10815	CPLX1	HP:0004467	Preauricular pit	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000826	Precocious puberty	-	OMIM:194190
10815	CPLX1	HP:0045084	Limb myoclonus	HP:0040283	ORPHA:352582
10815	CPLX1	HP:0000958	Dry skin	HP:0040282	ORPHA:280
10815	CPLX1	HP:0000954	Single transverse palmar crease	HP:0040283	OMIM:194190
10815	CPLX1	HP:0000960	Sacral dimple	HP:0040282	ORPHA:280
10815	CPLX1	HP:0000960	Sacral dimple	HP:0040283	OMIM:194190
10815	CPLX1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:280
10815	CPLX1	HP:0000286	Epicanthus	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000286	Epicanthus	HP:0040281	ORPHA:280
10815	CPLX1	HP:0000288	Abnormality of the philtrum	HP:0040281	ORPHA:280
10815	CPLX1	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:280
10815	CPLX1	HP:0002827	Hip dislocation	-	OMIM:194190
10815	CPLX1	HP:0002808	Kyphosis	HP:0040282	ORPHA:280
10815	CPLX1	HP:0002808	Kyphosis	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000238	Hydrocephalus	HP:0040283	OMIM:194190
10815	CPLX1	HP:0000252	Microcephaly	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000252	Microcephaly	HP:0040281	ORPHA:280
10815	CPLX1	HP:0000219	Thin upper lip vermilion	3/3	OMIM:617976
10815	CPLX1	HP:0001558	Decreased fetal movement	HP:0040281	ORPHA:280
10815	CPLX1	HP:0001558	Decreased fetal movement	-	OMIM:194190
10815	CPLX1	HP:0000202	Orofacial cleft	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000204	Cleft upper lip	HP:0040282	ORPHA:280
10815	CPLX1	HP:0000204	Cleft upper lip	-	OMIM:194190
10815	CPLX1	HP:0001508	Failure to thrive	HP:0040282	OMIM:194190
10815	CPLX1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:280
10815	CPLX1	HP:0001519	Disproportionate tall stature	HP:0040283	ORPHA:280
10815	CPLX1	HP:0001518	Small for gestational age	HP:0040281	OMIM:194190
10815	CPLX1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:280
10815	CPLX1	HP:0001511	Intrauterine growth retardation	HP:0040281	OMIM:194190
10815	CPLX1	HP:0001510	Growth delay	HP:0040281	OMIM:194190
10815	CPLX1	HP:0011097	Epileptic spasm	1/3	OMIM:617976
10815	CPLX1	HP:0000384	Preauricular skin tag	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000377	Abnormal pinna morphology	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:280
10815	CPLX1	HP:0005264	Abnormality of the gallbladder	HP:0040283	ORPHA:280
10815	CPLX1	HP:0002948	Vertebral fusion	-	OMIM:194190
10815	CPLX1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:280
10815	CPLX1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:280
10815	CPLX1	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:280
10815	CPLX1	HP:0000343	Long philtrum	2/3	OMIM:617976
10815	CPLX1	HP:0000348	High forehead	HP:0040281	ORPHA:280
10815	CPLX1	HP:0000348	High forehead	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000347	Micrognathia	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000347	Micrognathia	HP:0040281	ORPHA:280
10815	CPLX1	HP:0032794	Myoclonic seizure	1/3	OMIM:617976
10815	CPLX1	HP:0000316	Hypertelorism	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:280
10815	CPLX1	HP:0000316	Hypertelorism	2/3	OMIM:617976
10815	CPLX1	HP:0002974	Radioulnar synostosis	-	OMIM:194190
10815	CPLX1	HP:0001654	Abnormal heart valve morphology	HP:0040282	ORPHA:280
10815	CPLX1	HP:0000322	Short philtrum	HP:0040281	ORPHA:280
10815	CPLX1	HP:0000322	Short philtrum	HP:0040282	OMIM:194190
10815	CPLX1	HP:0001629	Ventricular septal defect	-	OMIM:194190
10815	CPLX1	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:280
10815	CPLX1	HP:0001631	Atrial septal defect	27%	OMIM:194190
10815	CPLX1	HP:0011198	EEG with generalized epileptiform discharges	1/3	OMIM:617976
10815	CPLX1	HP:0011197	EEG with focal spike waves	HP:0040282	ORPHA:352582
10815	CPLX1	HP:0011171	Simple febrile seizure	HP:0040282	ORPHA:352582
10815	CPLX1	HP:0006655	Rib segmentation abnormalities	HP:0040282	ORPHA:280
10815	CPLX1	HP:0006655	Rib segmentation abnormalities	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000407	Sensorineural hearing impairment	15%	OMIM:194190
10815	CPLX1	HP:0000405	Conductive hearing impairment	40%	OMIM:194190
10815	CPLX1	HP:0000405	Conductive hearing impairment	1/3	OMIM:617976
10815	CPLX1	HP:0000402	Stenosis of the external auditory canal	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000486	Strabismus	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000486	Strabismus	HP:0040283	ORPHA:280
10815	CPLX1	HP:0000486	Strabismus	1/3	OMIM:617976
10815	CPLX1	HP:0000485	Megalocornea	HP:0040283	ORPHA:280
10815	CPLX1	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:280
10815	CPLX1	HP:0000488	Retinopathy	HP:0040283	ORPHA:280
10815	CPLX1	HP:0000465	Webbed neck	HP:0040283	OMIM:194190
10815	CPLX1	HP:0000444	Convex nasal ridge	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000414	Bulbous nose	1/3	OMIM:617976
10815	CPLX1	HP:0001747	Accessory spleen	-	OMIM:194190
10815	CPLX1	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:280
10815	CPLX1	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:280
10815	CPLX1	HP:0001762	Talipes equinovarus	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:280
10815	CPLX1	HP:0000431	Wide nasal bridge	HP:0040282	OMIM:194190
10815	CPLX1	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040282	ORPHA:280
10815	CPLX1	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040283	ORPHA:280
10815	CPLX1	HP:0001845	Overlapping toe	2/3	OMIM:617976
10815	CPLX1	HP:0001841	Preaxial foot polydactyly	HP:0040283	OMIM:194190
10815	CPLX1	HP:0001840	Metatarsus adductus	-	OMIM:194190
10815	CPLX1	HP:0000520	Proptosis	HP:0040283	ORPHA:280
10815	CPLX1	HP:0000520	Proptosis	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000520	Proptosis	HP:0040283	ORPHA:352582
10815	CPLX1	HP:0000508	Ptosis	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000508	Ptosis	HP:0040282	ORPHA:280
10815	CPLX1	HP:0000501	Glaucoma	HP:0040283	ORPHA:280
10815	CPLX1	HP:0001812	Hyperconvex fingernails	-	OMIM:194190
10815	CPLX1	HP:0000558	Rieger anomaly	HP:0040282	OMIM:194190
10815	CPLX1	HP:0000574	Thick eyebrow	1/3	OMIM:617976
10841	FTCD	HP:0010904	Abnormal circulating histidine concentration	HP:0040281	ORPHA:51208
10841	FTCD	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:51208
10841	FTCD	HP:0500170	Abnormal concentration of acylcarnitine in the urine	HP:0040282	ORPHA:51208
10841	FTCD	HP:0001249	Intellectual disability	-	OMIM:229100
10841	FTCD	HP:0000007	Autosomal recessive inheritance	-	OMIM:229100
10841	FTCD	HP:0003355	Aminoaciduria	-	OMIM:229100
10841	FTCD	HP:0004821	Hypersegmentation of neutrophil nuclei	-	OMIM:229100
10841	FTCD	HP:0032164	Increased blood folate concentration	HP:0040282	ORPHA:51208
10841	FTCD	HP:0003612	Positive ferric chloride test	-	OMIM:229100
10841	FTCD	HP:0034742	Elevated urinary formiminoglutamic acid level	-	OMIM:229100
10841	FTCD	HP:0001903	Anemia	HP:0040283	ORPHA:51208
10841	FTCD	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:51208
10841	FTCD	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:51208
10841	FTCD	HP:0000717	Autism	HP:0040284	ORPHA:51208
10841	FTCD	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:51208
10841	FTCD	HP:0001510	Growth delay	-	OMIM:229100
10841	FTCD	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:51208
10841	FTCD	HP:0012335	Abnormality of folate metabolism	HP:0040281	ORPHA:51208
10841	FTCD	HP:0001631	Atrial septal defect	HP:0040284	ORPHA:51208
10841	FTCD	HP:0001889	Megaloblastic anemia	HP:0040283	ORPHA:51208
10841	FTCD	HP:0001889	Megaloblastic anemia	-	OMIM:229100
10842	PPP1R17	HP:0001114	Xanthelasma	-	OMIM:143890
10842	PPP1R17	HP:0010874	Tendon xanthomatosis	-	OMIM:143890
10842	PPP1R17	HP:0000007	Autosomal recessive inheritance	-	OMIM:143890
10842	PPP1R17	HP:0000006	Autosomal dominant inheritance	-	OMIM:143890
10842	PPP1R17	HP:0001084	Corneal arcus	-	OMIM:143890
10842	PPP1R17	HP:0003141	Increased LDL cholesterol concentration	-	OMIM:143890
10842	PPP1R17	HP:0001677	Coronary artery atherosclerosis	-	OMIM:143890
10844	TUBGCP2	HP:0002416	Subependymal cysts	2/5	OMIM:618737
10844	TUBGCP2	HP:0001257	Spasticity	1/5	OMIM:618737
10844	TUBGCP2	HP:0001348	Brisk reflexes	1/2	OMIM:618737
10844	TUBGCP2	HP:0032409	Subcortical band heterotopia	2/5	OMIM:618737
10844	TUBGCP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618737
10844	TUBGCP2	HP:0001302	Pachygyria	5/5	OMIM:618737
10844	TUBGCP2	HP:0006304	Widely-spaced incisors	1/5	OMIM:618737
10844	TUBGCP2	HP:0008936	Axial hypotonia	3/5	OMIM:618737
10844	TUBGCP2	HP:0011800	Midface retrusion	1/5	OMIM:618737
10844	TUBGCP2	HP:0002079	Hypoplasia of the corpus callosum	3/5	OMIM:618737
10844	TUBGCP2	HP:0003593	Infantile onset	-	OMIM:618737
10844	TUBGCP2	HP:0100704	Cerebral visual impairment	1/5	OMIM:618737
10844	TUBGCP2	HP:0000648	Optic atrophy	1/5	OMIM:618737
10844	TUBGCP2	HP:0000664	Synophrys	1/5	OMIM:618737
10844	TUBGCP2	HP:0000253	Progressive microcephaly	4/4	OMIM:618737
10844	TUBGCP2	HP:0000219	Thin upper lip vermilion	1/5	OMIM:618737
10844	TUBGCP2	HP:0000341	Narrow forehead	3/10	OMIM:618737
10844	TUBGCP2	HP:0000340	Sloping forehead	1/5	OMIM:618737
10844	TUBGCP2	HP:0000319	Smooth philtrum	3/5	OMIM:618737
10844	TUBGCP2	HP:0000327	Hypoplasia of the maxilla	2/5	OMIM:618737
10844	TUBGCP2	HP:0011182	Interictal epileptiform activity	-	OMIM:618737
10844	TUBGCP2	HP:0000414	Bulbous nose	2/5	OMIM:618737
10844	TUBGCP2	HP:0000411	Protruding ear	5/5	OMIM:618737
10844	TUBGCP2	HP:0000582	Upslanted palpebral fissure	2/5	OMIM:618737
10844	TUBGCP2	HP:0000574	Thick eyebrow	2/5	OMIM:618737
10845	CLPX	HP:0000006	Autosomal dominant inheritance	-	OMIM:618015
10845	CLPX	HP:0012187	Increased erythrocyte protoporphyrin concentration	3/3	OMIM:618015
10845	CLPX	HP:0003593	Infantile onset	1/1	OMIM:618015
10845	CLPX	HP:0000992	Cutaneous photosensitivity	3/3	OMIM:618015
10845	CLPX	HP:0001891	Iron deficiency anemia	1/3	OMIM:618015
10846	PDE10A	HP:0002487	Hyperkinetic movements	-	OMIM:616921
10846	PDE10A	HP:0001270	Motor delay	HP:0040282	ORPHA:494526
10846	PDE10A	HP:0001270	Motor delay	-	OMIM:616921
10846	PDE10A	HP:0001268	Mental deterioration	-	OMIM:616922
10846	PDE10A	HP:0001250	Seizure	-	OMIM:616921
10846	PDE10A	HP:0001249	Intellectual disability	-	OMIM:616922
10846	PDE10A	HP:0001260	Dysarthria	HP:0040282	ORPHA:494526
10846	PDE10A	HP:0001260	Dysarthria	-	OMIM:616921
10846	PDE10A	HP:0010994	Abnormal corpus striatum morphology	HP:0040282	ORPHA:494541
10846	PDE10A	HP:0010994	Abnormal corpus striatum morphology	-	OMIM:616922
10846	PDE10A	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	HP:0040283	ORPHA:494541
10846	PDE10A	HP:0000007	Autosomal recessive inheritance	-	OMIM:616921
10846	PDE10A	HP:0001337	Tremor	HP:0040283	ORPHA:494526
10846	PDE10A	HP:0001337	Tremor	HP:0040283	OMIM:616921
10846	PDE10A	HP:0000006	Autosomal dominant inheritance	-	OMIM:616922
10846	PDE10A	HP:0001300	Parkinsonism	-	OMIM:616922
10846	PDE10A	HP:0008936	Axial hypotonia	-	OMIM:616921
10846	PDE10A	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:494526
10846	PDE10A	HP:0031206	Striatal T2 hyperintensity	HP:0040282	ORPHA:494541
10846	PDE10A	HP:0002072	Chorea	HP:0040282	ORPHA:494526
10846	PDE10A	HP:0002072	Chorea	-	OMIM:616922
10846	PDE10A	HP:0002072	Chorea	-	OMIM:616921
10846	PDE10A	HP:0002072	Chorea	HP:0040281	ORPHA:494541
10846	PDE10A	HP:0002194	Delayed gross motor development	-	ORPHA:494541
10846	PDE10A	HP:0003593	Infantile onset	-	OMIM:616921
10846	PDE10A	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:494526
10846	PDE10A	HP:0011968	Feeding difficulties	HP:0040283	OMIM:616921
10846	PDE10A	HP:0002359	Frequent falls	HP:0040282	ORPHA:494526
10846	PDE10A	HP:0002359	Frequent falls	-	OMIM:616921
10846	PDE10A	HP:0003680	Nonprogressive	-	OMIM:616922
10846	PDE10A	HP:0002317	Unsteady gait	HP:0040282	ORPHA:494526
10846	PDE10A	HP:0002317	Unsteady gait	-	OMIM:616921
10846	PDE10A	HP:0100660	Dyskinesia	-	OMIM:616921
10846	PDE10A	HP:0002310	Orofacial dyskinesia	HP:0040281	ORPHA:494526
10846	PDE10A	HP:0002310	Orofacial dyskinesia	-	OMIM:616921
10846	PDE10A	HP:0002307	Drooling	HP:0040282	ORPHA:494526
10846	PDE10A	HP:0002307	Drooling	-	OMIM:616921
10846	PDE10A	HP:0000739	Anxiety	HP:0040283	ORPHA:494541
10846	PDE10A	HP:0000726	Dementia	-	ORPHA:494541
10846	PDE10A	HP:0011470	Nasogastric tube feeding in infancy	HP:0040282	ORPHA:494526
10846	PDE10A	HP:0100248	Hemiballismus	-	OMIM:616921
10846	PDE10A	HP:0100248	Hemiballismus	HP:0040283	ORPHA:494526
10846	PDE10A	HP:0012444	Brain atrophy	-	ORPHA:494526
10847	SRCAP	HP:0001156	Brachydactyly	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0001156	Brachydactyly	9/12	OMIM:136140
10847	SRCAP	HP:0002474	Expressive language delay	13/13	OMIM:136140
10847	SRCAP	HP:0003774	Stage 5 chronic kidney disease	HP:0040284	ORPHA:2044
10847	SRCAP	HP:0010957	Congenital posterior urethral valve	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0010957	Congenital posterior urethral valve	1/13	OMIM:136140
10847	SRCAP	HP:0010946	Dilatation of the renal pelvis	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0025160	Abnormal temper tantrums	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0008554	Cochlear malformation	HP:0040284	ORPHA:2044
10847	SRCAP	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
10847	SRCAP	HP:0001293	Cranial nerve compression	-	OMIM:131300
10847	SRCAP	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:2044
10847	SRCAP	HP:0001250	Seizure	3/32	OMIM:619595
10847	SRCAP	HP:0001250	Seizure	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0001252	Hypotonia	18/30	OMIM:619595
10847	SRCAP	HP:0001252	Hypotonia	2/7	OMIM:615777
10847	SRCAP	HP:0001249	Intellectual disability	22/29	OMIM:619595
10847	SRCAP	HP:0001249	Intellectual disability	7/14	OMIM:136140
10847	SRCAP	HP:0001249	Intellectual disability	5/7	OMIM:615777
10847	SRCAP	HP:0001260	Dysarthria	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0001263	Global developmental delay	-	OMIM:615777
10847	SRCAP	HP:0003879	Humeral pseudarthrosis	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0002515	Waddling gait	54/102	OMIM:131300
10847	SRCAP	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0001385	Hip dysplasia	1/9	OMIM:136140
10847	SRCAP	HP:0001382	Joint hypermobility	17/32	OMIM:619595
10847	SRCAP	HP:0001382	Joint hypermobility	-	OMIM:136140
10847	SRCAP	HP:0001382	Joint hypermobility	-	OMIM:615777
10847	SRCAP	HP:0000047	Hypospadias	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000047	Hypospadias	1/11	OMIM:136140
10847	SRCAP	HP:0000023	Inguinal hernia	1/13	OMIM:136140
10847	SRCAP	HP:0002694	Sclerosis of skull base	-	OMIM:131300
10847	SRCAP	HP:0000028	Cryptorchidism	1/17	OMIM:619595
10847	SRCAP	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000028	Cryptorchidism	1/11	OMIM:136140
10847	SRCAP	HP:0008897	Postnatal growth retardation	-	OMIM:615777
10847	SRCAP	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
10847	SRCAP	HP:0001324	Muscle weakness	40/96	OMIM:131300
10847	SRCAP	HP:0001344	Absent speech	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
10847	SRCAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:619595
10847	SRCAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
10847	SRCAP	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
10847	SRCAP	HP:0000006	Autosomal dominant inheritance	-	OMIM:136140
10847	SRCAP	HP:0002650	Scoliosis	12/14	OMIM:131300
10847	SRCAP	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
10847	SRCAP	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
10847	SRCAP	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
10847	SRCAP	HP:0002608	Celiac disease	1/13	OMIM:136140
10847	SRCAP	HP:0002608	Celiac disease	HP:0040284	ORPHA:2044
10847	SRCAP	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
10847	SRCAP	HP:0000175	Cleft palate	2/7	OMIM:615777
10847	SRCAP	HP:0000154	Wide mouth	HP:0040282	ORPHA:2044
10847	SRCAP	HP:0000154	Wide mouth	12/13	OMIM:136140
10847	SRCAP	HP:0000154	Wide mouth	-	OMIM:619595
10847	SRCAP	HP:0006335	Persistence of primary teeth	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000121	Nephrocalcinosis	1/13	OMIM:136140
10847	SRCAP	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000113	Polycystic kidney dysplasia	HP:0040284	ORPHA:2044
10847	SRCAP	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000126	Hydronephrosis	1/13	OMIM:136140
10847	SRCAP	HP:0000107	Renal cyst	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000104	Renal agenesis	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0002751	Kyphoscoliosis	1/9	OMIM:136140
10847	SRCAP	HP:0002750	Delayed skeletal maturation	0/30	OMIM:619595
10847	SRCAP	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:2044
10847	SRCAP	HP:0002750	Delayed skeletal maturation	12/13	OMIM:136140
10847	SRCAP	HP:0002714	Downturned corners of mouth	-	OMIM:136140
10847	SRCAP	HP:0002020	Gastroesophageal reflux	-	OMIM:619595
10847	SRCAP	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0002019	Constipation	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0003388	Easy fatigability	36/76	OMIM:131300
10847	SRCAP	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
10847	SRCAP	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0002136	Broad-based gait	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0002162	Low posterior hairline	-	OMIM:136140
10847	SRCAP	HP:0009577	Short middle phalanx of the 2nd finger	1/9	OMIM:136140
10847	SRCAP	HP:0003593	Infantile onset	-	OMIM:619595
10847	SRCAP	HP:0003593	Infantile onset	1/1	OMIM:136140
10847	SRCAP	HP:0100710	Impulsivity	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0003510	Severe short stature	7/7	OMIM:615777
10847	SRCAP	HP:0001047	Atopic dermatitis	1/1	OMIM:136140
10847	SRCAP	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:2044
10847	SRCAP	HP:0001007	Hirsutism	-	OMIM:136140
10847	SRCAP	HP:0002315	Headache	-	OMIM:131300
10847	SRCAP	HP:0004976	Knee dislocation	6/7	OMIM:615777
10847	SRCAP	HP:0009803	Short phalanx of finger	-	OMIM:615777
10847	SRCAP	HP:0009778	Short thumb	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0009763	Limb pain	63/92	OMIM:131300
10847	SRCAP	HP:0009765	Low hanging columella	14/14	OMIM:136140
10847	SRCAP	HP:0009765	Low hanging columella	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0003621	Juvenile onset	-	OMIM:131300
10847	SRCAP	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
10847	SRCAP	HP:0004209	Clinodactyly of the 5th finger	9/12	OMIM:136140
10847	SRCAP	HP:0004220	Short middle phalanx of the 5th finger	1/9	OMIM:136140
10847	SRCAP	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
10847	SRCAP	HP:6001056	Out-toeing	-	OMIM:131300
10847	SRCAP	HP:0000651	Diplopia	-	OMIM:131300
10847	SRCAP	HP:0000629	Periorbital fullness	-	OMIM:619595
10847	SRCAP	HP:0001956	Truncal obesity	2/7	OMIM:615777
10847	SRCAP	HP:0001903	Anemia	HP:0040283	OMIM:131300
10847	SRCAP	HP:0010049	Short metacarpal	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0010049	Short metacarpal	-	OMIM:615777
10847	SRCAP	HP:0010047	Short 5th metacarpal	2/9	OMIM:136140
10847	SRCAP	HP:0010034	Short 1st metacarpal	1/9	OMIM:136140
10847	SRCAP	HP:0000678	Dental crowding	-	OMIM:615777
10847	SRCAP	HP:0000677	Oligodontia	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000691	Microdontia	2/5	OMIM:136140
10847	SRCAP	HP:0000691	Microdontia	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000670	Carious teeth	3/5	OMIM:136140
10847	SRCAP	HP:0000670	Carious teeth	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000670	Carious teeth	-	OMIM:131300
10847	SRCAP	HP:0011300	Broad fingertip	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0011300	Broad fingertip	7/9	OMIM:136140
10847	SRCAP	HP:0011304	Broad thumb	7/10	OMIM:136140
10847	SRCAP	HP:0011304	Broad thumb	2/7	OMIM:615777
10847	SRCAP	HP:0000668	Hypodontia	-	OMIM:615777
10847	SRCAP	HP:0000664	Synophrys	-	OMIM:615777
10847	SRCAP	HP:0004322	Short stature	0/30	OMIM:619595
10847	SRCAP	HP:0004322	Short stature	HP:0040281	ORPHA:2044
10847	SRCAP	HP:0004322	Short stature	-	OMIM:136140
10847	SRCAP	HP:0003083	Dislocated radial head	1/9	OMIM:136140
10847	SRCAP	HP:0003083	Dislocated radial head	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000807	Glanular hypospadias	1/1	OMIM:136140
10847	SRCAP	HP:0004396	Poor appetite	-	OMIM:131300
10847	SRCAP	HP:0003037	Enlarged joints	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
10847	SRCAP	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
10847	SRCAP	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
10847	SRCAP	HP:0003026	Short long bone	7/7	OMIM:615777
10847	SRCAP	HP:0031936	Delayed ability to walk	1/1	OMIM:136140
10847	SRCAP	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
10847	SRCAP	HP:0000767	Pectus excavatum	2/7	OMIM:615777
10847	SRCAP	HP:0000768	Pectus carinatum	1/7	OMIM:615777
10847	SRCAP	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
10847	SRCAP	HP:0000739	Anxiety	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000736	Short attention span	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000750	Delayed speech and language development	28/30	OMIM:619595
10847	SRCAP	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:2044
10847	SRCAP	HP:0000750	Delayed speech and language development	1/1	OMIM:136140
10847	SRCAP	HP:0000750	Delayed speech and language development	-	OMIM:615777
10847	SRCAP	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000718	Aggressive behavior	1/1	OMIM:136140
10847	SRCAP	HP:0000711	Restlessness	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000729	Autistic behavior	12/29	OMIM:619595
10847	SRCAP	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000709	Psychosis	4/30	OMIM:619595
10847	SRCAP	HP:0000708	Atypical behavior	18/30	OMIM:619595
10847	SRCAP	HP:0011461	Fetal onset	7/7	OMIM:615777
10847	SRCAP	HP:0000774	Narrow chest	2/7	OMIM:615777
10847	SRCAP	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000914	Shield chest	HP:0040282	ORPHA:2044
10847	SRCAP	HP:0000926	Platyspondyly	1/7	OMIM:615777
10847	SRCAP	HP:0003189	Long nose	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0003180	Flat acetabular roof	-	OMIM:615777
10847	SRCAP	HP:0004482	Relative macrocephaly	-	OMIM:615777
10847	SRCAP	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
10847	SRCAP	HP:0012871	Varicocele	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0012871	Varicocele	1/13	OMIM:136140
10847	SRCAP	HP:0000878	11 pairs of ribs	2/9	OMIM:136140
10847	SRCAP	HP:0000878	11 pairs of ribs	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000826	Precocious puberty	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000823	Delayed puberty	-	OMIM:131300
10847	SRCAP	HP:0011599	Mesocardia	HP:0040284	ORPHA:2044
10847	SRCAP	HP:0011599	Mesocardia	1/13	OMIM:136140
10847	SRCAP	HP:0010252	Ivory epiphyses of the distal phalanges of the hand	1/9	OMIM:136140
10847	SRCAP	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	-	OMIM:136140
10847	SRCAP	HP:0000894	Short clavicles	-	OMIM:615777
10847	SRCAP	HP:0000894	Short clavicles	1/9	OMIM:136140
10847	SRCAP	HP:0000894	Short clavicles	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0004554	Generalized hypertrichosis	1/1	OMIM:136140
10847	SRCAP	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
10847	SRCAP	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
10847	SRCAP	HP:0045025	Narrow palpebral fissure	-	OMIM:619595
10847	SRCAP	HP:0000286	Epicanthus	-	OMIM:619595
10847	SRCAP	HP:0000286	Epicanthus	1/7	OMIM:615777
10847	SRCAP	HP:0000280	Coarse facial features	2/7	OMIM:615777
10847	SRCAP	HP:0000278	Retrognathia	-	OMIM:619595
10847	SRCAP	HP:0000256	Macrocephaly	2/29	OMIM:619595
10847	SRCAP	HP:0000276	Long face	-	OMIM:619595
10847	SRCAP	HP:0002827	Hip dislocation	3/7	OMIM:615777
10847	SRCAP	HP:0030084	Clinodactyly	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000252	Microcephaly	1/29	OMIM:619595
10847	SRCAP	HP:0000252	Microcephaly	-	OMIM:615777
10847	SRCAP	HP:0000219	Thin upper lip vermilion	-	OMIM:619595
10847	SRCAP	HP:0000219	Thin upper lip vermilion	10/14	OMIM:136140
10847	SRCAP	HP:0000232	Everted lower lip vermilion	-	OMIM:619595
10847	SRCAP	HP:0002857	Genu valgum	-	OMIM:131300
10847	SRCAP	HP:0001537	Umbilical hernia	1/13	OMIM:136140
10847	SRCAP	HP:0001533	Slender build	-	OMIM:131300
10847	SRCAP	HP:0001518	Small for gestational age	HP:0040281	ORPHA:2044
10847	SRCAP	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
10847	SRCAP	HP:0001510	Growth delay	HP:0040282	ORPHA:2044
10847	SRCAP	HP:0011098	Speech apraxia	HP:0040281	ORPHA:2044
10847	SRCAP	HP:0007807	Optic nerve compression	-	OMIM:131300
10847	SRCAP	HP:0012368	Flat face	7/7	OMIM:615777
10847	SRCAP	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
10847	SRCAP	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000365	Hearing impairment	10/67	OMIM:131300
10847	SRCAP	HP:0000358	Posteriorly rotated ears	-	OMIM:136140
10847	SRCAP	HP:0000369	Low-set ears	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000369	Low-set ears	9/13	OMIM:136140
10847	SRCAP	HP:0000343	Long philtrum	-	OMIM:619595
10847	SRCAP	HP:0000343	Long philtrum	1/7	OMIM:615777
10847	SRCAP	HP:0011001	Increased bone mineral density	-	OMIM:131300
10847	SRCAP	HP:0001680	Coarctation of aorta	1/13	OMIM:136140
10847	SRCAP	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:2044
10847	SRCAP	HP:0000311	Round face	2/7	OMIM:615777
10847	SRCAP	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000322	Short philtrum	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000322	Short philtrum	12/14	OMIM:136140
10847	SRCAP	HP:0000325	Triangular face	HP:0040282	ORPHA:2044
10847	SRCAP	HP:0000325	Triangular face	11/12	OMIM:136140
10847	SRCAP	HP:0001620	Abnormally high-pitched voice	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0002970	Genu varum	-	OMIM:615777
10847	SRCAP	HP:0001636	Tetralogy of Fallot	HP:0040284	ORPHA:2044
10847	SRCAP	HP:0001631	Atrial septal defect	HP:0040284	ORPHA:2044
10847	SRCAP	HP:0001631	Atrial septal defect	1/13	OMIM:136140
10847	SRCAP	HP:0000303	Mandibular prognathia	-	OMIM:131300
10847	SRCAP	HP:0000303	Mandibular prognathia	-	OMIM:619595
10847	SRCAP	HP:0005301	Persistent left superior vena cava	1/13	OMIM:136140
10847	SRCAP	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:2044
10847	SRCAP	HP:0000403	Recurrent otitis media	1/13	OMIM:136140
10847	SRCAP	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000405	Conductive hearing impairment	2/13	OMIM:136140
10847	SRCAP	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
10847	SRCAP	HP:0000486	Strabismus	3/30	OMIM:619595
10847	SRCAP	HP:0000486	Strabismus	HP:0040282	ORPHA:2044
10847	SRCAP	HP:0000486	Strabismus	1/13	OMIM:136140
10847	SRCAP	HP:0000490	Deeply set eye	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000490	Deeply set eye	-	OMIM:136140
10847	SRCAP	HP:0000455	Broad nasal tip	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000470	Short neck	HP:0040282	ORPHA:2044
10847	SRCAP	HP:0000470	Short neck	-	OMIM:136140
10847	SRCAP	HP:0000470	Short neck	1/7	OMIM:615777
10847	SRCAP	HP:0001769	Broad foot	HP:0040283	OMIM:615777
10847	SRCAP	HP:0001763	Pes planus	1/7	OMIM:615777
10847	SRCAP	HP:0000448	Prominent nose	13/13	OMIM:136140
10847	SRCAP	HP:0000446	Narrow nasal bridge	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000414	Bulbous nose	1/1	OMIM:136140
10847	SRCAP	HP:0000411	Protruding ear	-	OMIM:619595
10847	SRCAP	HP:0000431	Wide nasal bridge	-	OMIM:619595
10847	SRCAP	HP:0000430	Underdeveloped nasal alae	1/1	OMIM:136140
10847	SRCAP	HP:0000426	Prominent nasal bridge	1/1	OMIM:136140
10847	SRCAP	HP:0030424	Epididymal cyst	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0030424	Epididymal cyst	1/13	OMIM:136140
10847	SRCAP	HP:0005487	Prominent metopic ridge	1/1	OMIM:136140
10847	SRCAP	HP:0001840	Metatarsus adductus	-	OMIM:615777
10847	SRCAP	HP:0000527	Long eyelashes	-	OMIM:136140
10847	SRCAP	HP:0000520	Proptosis	2/4	OMIM:131300
10847	SRCAP	HP:0000520	Proptosis	7/7	OMIM:615777
10847	SRCAP	HP:0000593	Abnormal anterior chamber morphology	HP:0040284	ORPHA:2044
10847	SRCAP	HP:0000592	Blue sclerae	2/7	OMIM:615777
10847	SRCAP	HP:0011220	Prominent forehead	-	OMIM:619595
10847	SRCAP	HP:0012538	Gluten intolerance	HP:0040284	ORPHA:2044
10847	SRCAP	HP:0000540	Hypermetropia	HP:0040283	ORPHA:2044
10847	SRCAP	HP:0000540	Hypermetropia	2/13	OMIM:136140
10847	SRCAP	HP:0000540	Hypermetropia	-	OMIM:619595
10847	SRCAP	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
10847	SRCAP	HP:0012514	Lower limb pain	4/4	OMIM:131300
10847	SRCAP	HP:0000545	Myopia	-	OMIM:619595
10848	PPP1R13L	HP:0025169	Left ventricular systolic dysfunction	12/13	OMIM:620519
10848	PPP1R13L	HP:0009890	High anterior hairline	4/11	OMIM:620519
10848	PPP1R13L	HP:0001270	Motor delay	5/11	OMIM:620519
10848	PPP1R13L	HP:0001249	Intellectual disability	1/13	OMIM:620519
10848	PPP1R13L	HP:0000007	Autosomal recessive inheritance	-	OMIM:620519
10848	PPP1R13L	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
10848	PPP1R13L	HP:0410030	Cleft lip	2/11	OMIM:620519
10848	PPP1R13L	HP:0004756	Ventricular tachycardia	2/13	OMIM:620519
10848	PPP1R13L	HP:0003593	Infantile onset	6/13	OMIM:620519
10848	PPP1R13L	HP:0002209	Sparse scalp hair	6/12	OMIM:620519
10848	PPP1R13L	HP:0002208	Coarse hair	1/2	OMIM:620519
10848	PPP1R13L	HP:0008404	Nail dystrophy	2/11	OMIM:620519
10848	PPP1R13L	HP:0003621	Juvenile onset	1/7	OMIM:620519
10848	PPP1R13L	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
10848	PPP1R13L	HP:0011359	Dry hair	3/4	OMIM:620519
10848	PPP1R13L	HP:0011463	Childhood onset	7/13	OMIM:620519
10848	PPP1R13L	HP:0004467	Preauricular pit	-	OMIM:187500
10848	PPP1R13L	HP:0030718	Right atrial enlargement	1/6	OMIM:620519
10848	PPP1R13L	HP:0034306	Ventricular bigeminy	3/14	OMIM:620519
10848	PPP1R13L	HP:0000989	Pruritus	1/12	OMIM:620519
10848	PPP1R13L	HP:0000982	Palmoplantar keratoderma	0/12	OMIM:620519
10848	PPP1R13L	HP:0040149	Woolly scalp hair	4/11	OMIM:620519
10848	PPP1R13L	HP:0008064	Ichthyosis	2/12	OMIM:620519
10848	PPP1R13L	HP:0031318	Myofiber disarray	1/2	OMIM:620519
10848	PPP1R13L	HP:0001561	Polyhydramnios	1/8	OMIM:620519
10848	PPP1R13L	HP:0001508	Failure to thrive	4/7	OMIM:620519
10848	PPP1R13L	HP:0005180	Tricuspid regurgitation	4/13	OMIM:620519
10848	PPP1R13L	HP:0001698	Pericardial effusion	2/14	OMIM:620519
10848	PPP1R13L	HP:0000337	Broad forehead	-	OMIM:187500
10848	PPP1R13L	HP:0001685	Myocardial fibrosis	1/2	OMIM:620519
10848	PPP1R13L	HP:0001647	Bicuspid aortic valve	1/14	OMIM:620519
10848	PPP1R13L	HP:0001644	Dilated cardiomyopathy	14/14	OMIM:620519
10848	PPP1R13L	HP:0001653	Mitral regurgitation	4/13	OMIM:620519
10848	PPP1R13L	HP:0001655	Patent foramen ovale	1/14	OMIM:620519
10848	PPP1R13L	HP:0001629	Ventricular septal defect	2/14	OMIM:620519
10848	PPP1R13L	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
10848	PPP1R13L	HP:0007957	Corneal opacity	1/7	OMIM:620519
10848	PPP1R13L	HP:0005280	Depressed nasal bridge	3/11	OMIM:620519
10848	PPP1R13L	HP:0012413	Notched primary central incisor	1/1	OMIM:620519
10848	PPP1R13L	HP:0000520	Proptosis	-	OMIM:187500
10848	PPP1R13L	HP:0001806	Onycholysis	1/13	OMIM:620519
10861	SLC26A1	HP:0008672	Calcium oxalate nephrolithiasis	1/1	OMIM:167030
10861	SLC26A1	HP:0000074	Ureteropelvic junction obstruction	1/1	OMIM:167030
10861	SLC26A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:167030
10861	SLC26A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620372
10861	SLC26A1	HP:6000854	Decreased circulating sulfate concentration	1/1	OMIM:620372
10861	SLC26A1	HP:0012613	Increased urinary sulfate	1/1	OMIM:620372
10861	SLC26A1	HP:0001919	Acute kidney injury	1/1	OMIM:167030
10861	SLC26A1	HP:0011463	Childhood onset	1/1	OMIM:167030
10861	SLC26A1	HP:0011462	Young adult onset	1/1	OMIM:620372
10861	SLC26A1	HP:0000787	Nephrolithiasis	1/1	OMIM:620372
10861	SLC26A1	HP:0003159	Hyperoxaluria	1/1	OMIM:167030
10861	SLC26A1	HP:0006649	Costochondral pain	1/1	OMIM:620372
10878	CFHR3	HP:0001269	Hemiparesis	-	OMIM:235400
10878	CFHR3	HP:0001250	Seizure	-	OMIM:235400
10878	CFHR3	HP:0001259	Coma	-	OMIM:235400
10878	CFHR3	HP:0000007	Autosomal recessive inheritance	-	OMIM:235400
10878	CFHR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:235400
10878	CFHR3	HP:0000006	Autosomal dominant inheritance	-	OMIM:603075
10878	CFHR3	HP:0002014	Diarrhea	-	OMIM:235400
10878	CFHR3	HP:0100543	Cognitive impairment	-	OMIM:235400
10878	CFHR3	HP:0100519	Anuria	-	OMIM:235400
10878	CFHR3	HP:0003584	Late onset	7/7	OMIM:603075
10878	CFHR3	HP:0002381	Aphasia	-	OMIM:235400
10878	CFHR3	HP:0005575	Hemolytic-uremic syndrome	-	OMIM:235400
10878	CFHR3	HP:0001981	Schistocytosis	-	OMIM:235400
10878	CFHR3	HP:0001945	Fever	-	OMIM:235400
10878	CFHR3	HP:0001923	Reticulocytosis	-	OMIM:235400
10878	CFHR3	HP:0001937	Microangiopathic hemolytic anemia	-	OMIM:235400
10878	CFHR3	HP:0000608	Macular degeneration	18/20	OMIM:603075
10878	CFHR3	HP:0001919	Acute kidney injury	-	OMIM:235400
10878	CFHR3	HP:0030499	Macular drusen	10/10	OMIM:603075
10878	CFHR3	HP:0012643	Foveal hypopigmentation	-	OMIM:603075
10878	CFHR3	HP:0003077	Hyperlipidemia	-	OMIM:235400
10878	CFHR3	HP:0003138	Increased blood urea nitrogen	-	OMIM:235400
10878	CFHR3	HP:0011506	Choroidal neovascularization	HP:0040284	OMIM:603075
10878	CFHR3	HP:0000822	Hypertension	-	OMIM:235400
10878	CFHR3	HP:0003259	Elevated circulating creatinine concentration	-	OMIM:235400
10878	CFHR3	HP:0000979	Purpura	-	OMIM:235400
10878	CFHR3	HP:0025574	Macular hemorrhage	HP:0040283	OMIM:603075
10878	CFHR3	HP:0031609	Geographic atrophy	5/10	OMIM:603075
10878	CFHR3	HP:0005356	Decreased circulating complement factor I concentration	-	OMIM:235400
10878	CFHR3	HP:0005369	Decreased circulating complement factor H concentration	-	OMIM:235400
10878	CFHR3	HP:0005421	Decreased circulating complement C3 concentration	-	OMIM:235400
10878	CFHR3	HP:0005416	Decreased circulating complement factor B concentration	-	OMIM:235400
10878	CFHR3	HP:0000529	Progressive visual loss	-	OMIM:603075
10878	CFHR3	HP:0001873	Thrombocytopenia	-	OMIM:235400
10881	ACTL7A	HP:6000501	Ruffled acrosome	2/2	OMIM:620499
10881	ACTL7A	HP:0034913	Acrosomal hypoplasia	1/1	OMIM:620499
10881	ACTL7A	HP:0000007	Autosomal recessive inheritance	-	OMIM:620499
10881	ACTL7A	HP:0011462	Young adult onset	3/3	OMIM:620499
10881	ACTL7A	HP:0012869	Acephalic spermatozoa	1/1	OMIM:620499
10881	ACTL7A	HP:0012865	Abnormal sperm head morphology	2/2	OMIM:620499
10881	ACTL7A	HP:0003251	Male infertility	2/2	OMIM:620499
10891	PPARGC1A	HP:0002463	Language impairment	HP:0040283	ORPHA:803
10891	PPARGC1A	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0001257	Spasticity	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
10891	PPARGC1A	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
10891	PPARGC1A	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
10891	PPARGC1A	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
10891	PPARGC1A	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
10891	PPARGC1A	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
10891	PPARGC1A	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
10891	PPARGC1A	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
10891	PPARGC1A	HP:0003470	Paralysis	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
10891	PPARGC1A	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
10891	PPARGC1A	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
10891	PPARGC1A	HP:0002307	Drooling	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
10891	PPARGC1A	HP:0004326	Cachexia	HP:0040283	ORPHA:803
10891	PPARGC1A	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0000739	Anxiety	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0000716	Depression	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
10891	PPARGC1A	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0012378	Fatigue	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0001824	Weight loss	HP:0040282	ORPHA:803
10891	PPARGC1A	HP:0012531	Pain	HP:0040282	ORPHA:803
10892	MALT1	HP:0100825	Cheilitis	1/1	OMIM:615468
10892	MALT1	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	2/2	OMIM:615468
10892	MALT1	HP:0410293	Absent isohemagglutinin level	2/2	OMIM:615468
10892	MALT1	HP:0001217	Clubbing	1/1	OMIM:615468
10892	MALT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615468
10892	MALT1	HP:0012191	B-cell lymphoma	HP:0040281	ORPHA:52417
10892	MALT1	HP:0012123	Posterior uveitis	HP:0040283	ORPHA:52417
10892	MALT1	HP:0002783	Recurrent lower respiratory tract infections	1/1	OMIM:615468
10892	MALT1	HP:0002750	Delayed skeletal maturation	1/1	OMIM:615468
10892	MALT1	HP:0002718	Recurrent bacterial infections	2/2	OMIM:615468
10892	MALT1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:52417
10892	MALT1	HP:0002721	Immunodeficiency	2/2	OMIM:615468
10892	MALT1	HP:0002019	Constipation	HP:0040282	ORPHA:52417
10892	MALT1	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:52417
10892	MALT1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:52417
10892	MALT1	HP:0002043	Esophageal stricture	1/1	OMIM:615468
10892	MALT1	HP:0002113	Pulmonary infiltrates	HP:0040281	ORPHA:52417
10892	MALT1	HP:0002110	Bronchiectasis	3/3	OMIM:615468
10892	MALT1	HP:0003593	Infantile onset	3/3	OMIM:615468
10892	MALT1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:52417
10892	MALT1	HP:0100721	Mediastinal lymphadenopathy	HP:0040283	ORPHA:52417
10892	MALT1	HP:0000614	Abnormal nasolacrimal system morphology	HP:0040283	ORPHA:52417
10892	MALT1	HP:0001945	Fever	HP:0040281	ORPHA:52417
10892	MALT1	HP:0001903	Anemia	HP:0040281	ORPHA:52417
10892	MALT1	HP:0004325	Decreased body weight	1/1	OMIM:615468
10892	MALT1	HP:0004322	Short stature	1/1	OMIM:615468
10892	MALT1	HP:0011421	Death in adolescence	2/2	OMIM:615468
10892	MALT1	HP:0004429	Recurrent viral infections	1/1	OMIM:615468
10892	MALT1	HP:0000820	Abnormality of the thyroid gland	HP:0040283	ORPHA:52417
10892	MALT1	HP:0040088	Abnormal lymphocyte count	0/2	OMIM:615468
10892	MALT1	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:52417
10892	MALT1	HP:0000988	Skin rash	1/1	OMIM:615468
10892	MALT1	HP:0000939	Osteoporosis	1/1	OMIM:615468
10892	MALT1	HP:0000265	Mastoiditis	2/2	OMIM:615468
10892	MALT1	HP:0031382	Decreased anti-CD3/28-induced T-cell proliferation	2/2	OMIM:615468
10892	MALT1	HP:0001510	Growth delay	2/2	OMIM:615468
10892	MALT1	HP:0012378	Fatigue	HP:0040281	ORPHA:52417
10892	MALT1	HP:0011107	Recurrent aphthous stomatitis	2/2	OMIM:615468
10892	MALT1	HP:0001824	Weight loss	HP:0040281	ORPHA:52417
10892	MALT1	HP:0000505	Visual impairment	HP:0040283	ORPHA:52417
10894	LYVE1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
10894	LYVE1	HP:0002619	Varicose veins	-	OMIM:153400
10894	LYVE1	HP:0000175	Cleft palate	5/39	OMIM:153400
10894	LYVE1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
10894	LYVE1	HP:0009743	Distichiasis	42/42	OMIM:153400
10894	LYVE1	HP:0001004	Lymphedema	-	OMIM:153400
10894	LYVE1	HP:0100658	Cellulitis	2/6	OMIM:153400
10894	LYVE1	HP:0000613	Photophobia	10/49	OMIM:153400
10894	LYVE1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
10894	LYVE1	HP:0000656	Ectropion	2/43	OMIM:153400
10894	LYVE1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
10894	LYVE1	HP:0012804	Corneal ulceration	-	OMIM:153400
10894	LYVE1	HP:0010310	Chylothorax	1/6	OMIM:153400
10894	LYVE1	HP:0011675	Arrhythmia	-	OMIM:153400
10894	LYVE1	HP:0002808	Kyphosis	2/5	OMIM:153400
10894	LYVE1	HP:0000204	Cleft upper lip	-	OMIM:153400
10894	LYVE1	HP:0000347	Micrognathia	2/5	OMIM:153400
10894	LYVE1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
10894	LYVE1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
10894	LYVE1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
10894	LYVE1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
10894	LYVE1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
10894	LYVE1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
10894	LYVE1	HP:0000465	Webbed neck	6/43	OMIM:153400
10894	LYVE1	HP:0000509	Conjunctivitis	-	OMIM:153400
10894	LYVE1	HP:0000508	Ptosis	2/39	OMIM:153400
10894	LYVE1	HP:0000568	Microphthalmia	1/6	OMIM:153400
10907	TXNL4A	HP:0000089	Renal hypoplasia	-	OMIM:608572
10907	TXNL4A	HP:0000023	Inguinal hernia	2/14	OMIM:608572
10907	TXNL4A	HP:0008872	Feeding difficulties in infancy	-	OMIM:608572
10907	TXNL4A	HP:0000007	Autosomal recessive inheritance	-	OMIM:608572
10907	TXNL4A	HP:0000193	Bifid uvula	2/14	OMIM:608572
10907	TXNL4A	HP:0000160	Narrow mouth	1/14	OMIM:608572
10907	TXNL4A	HP:0000175	Cleft palate	-	OMIM:608572
10907	TXNL4A	HP:0000174	Abnormal palate morphology	HP:0040283	ORPHA:1200
10907	TXNL4A	HP:0000122	Unilateral renal agenesis	1/14	OMIM:608572
10907	TXNL4A	HP:0004691	2-3 toe syndactyly	-	OMIM:608572
10907	TXNL4A	HP:0003577	Congenital onset	-	OMIM:608572
10907	TXNL4A	HP:0200138	Bilateral choanal atresia/stenosis	-	OMIM:608572
10907	TXNL4A	HP:0000652	Lower eyelid coloboma	12/14	OMIM:608572
10907	TXNL4A	HP:0004322	Short stature	2/14	OMIM:608572
10907	TXNL4A	HP:0004322	Short stature	HP:0040283	ORPHA:1200
10907	TXNL4A	HP:0012745	Short palpebral fissure	HP:0040281	ORPHA:1200
10907	TXNL4A	HP:0012745	Short palpebral fissure	14/14	OMIM:608572
10907	TXNL4A	HP:0003196	Short nose	HP:0040283	ORPHA:1200
10907	TXNL4A	HP:0004502	Bilateral choanal atresia	HP:0040281	ORPHA:1200
10907	TXNL4A	HP:0004502	Bilateral choanal atresia	-	OMIM:608572
10907	TXNL4A	HP:0000233	Thin vermilion border	8/14	OMIM:608572
10907	TXNL4A	HP:0000204	Cleft upper lip	-	OMIM:608572
10907	TXNL4A	HP:0000384	Preauricular skin tag	8/14	OMIM:608572
10907	TXNL4A	HP:0000365	Hearing impairment	10/14	OMIM:608572
10907	TXNL4A	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:1200
10907	TXNL4A	HP:0000338	Hypomimic face	-	OMIM:608572
10907	TXNL4A	HP:0000347	Micrognathia	9/14	OMIM:608572
10907	TXNL4A	HP:0000316	Hypertelorism	12/14	OMIM:608572
10907	TXNL4A	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1200
10907	TXNL4A	HP:0000322	Short philtrum	12/14	OMIM:608572
10907	TXNL4A	HP:0001629	Ventricular septal defect	-	OMIM:608572
10907	TXNL4A	HP:0001631	Atrial septal defect	-	OMIM:608572
10907	TXNL4A	HP:0000303	Mandibular prognathia	-	OMIM:608572
10907	TXNL4A	HP:0000405	Conductive hearing impairment	-	OMIM:608572
10907	TXNL4A	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:1200
10907	TXNL4A	HP:0000453	Choanal atresia	-	OMIM:608572
10907	TXNL4A	HP:0000411	Protruding ear	10/14	OMIM:608572
10907	TXNL4A	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:1200
10907	TXNL4A	HP:0000430	Underdeveloped nasal alae	-	OMIM:608572
10907	TXNL4A	HP:0000426	Prominent nasal bridge	13/14	OMIM:608572
10907	TXNL4A	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:1200
10907	TXNL4A	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1200
10907	TXNL4A	HP:0000581	Blepharophimosis	-	OMIM:608572
10908	PNPLA6	HP:0001155	Abnormality of the hand	-	OMIM:245800
10908	PNPLA6	HP:0001156	Brachydactyly	HP:0040283	ORPHA:2377
10908	PNPLA6	HP:0001161	Hand polydactyly	HP:0040281	ORPHA:2377
10908	PNPLA6	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
10908	PNPLA6	HP:0001135	Chorioretinal dystrophy	8/9	OMIM:215470
10908	PNPLA6	HP:0001135	Chorioretinal dystrophy	HP:0040281	ORPHA:1180
10908	PNPLA6	HP:0002460	Distal muscle weakness	-	OMIM:275400
10908	PNPLA6	HP:0007263	Spinocerebellar atrophy	-	OMIM:215470
10908	PNPLA6	HP:0009896	Abnormal antitragus morphology	HP:0040281	ORPHA:2377
10908	PNPLA6	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
10908	PNPLA6	HP:0001293	Cranial nerve compression	-	OMIM:131300
10908	PNPLA6	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:139480
10908	PNPLA6	HP:0001272	Cerebellar atrophy	10/10	OMIM:215470
10908	PNPLA6	HP:0001272	Cerebellar atrophy	HP:0040283	OMIM:612020
10908	PNPLA6	HP:0001288	Gait disturbance	-	OMIM:612020
10908	PNPLA6	HP:0001284	Areflexia	-	OMIM:215470
10908	PNPLA6	HP:0001256	Intellectual disability, mild	6/9	OMIM:215470
10908	PNPLA6	HP:0001250	Seizure	HP:0040284	ORPHA:3363
10908	PNPLA6	HP:0001252	Hypotonia	HP:0040282	ORPHA:1173
10908	PNPLA6	HP:0001252	Hypotonia	2/7	OMIM:615777
10908	PNPLA6	HP:0001251	Ataxia	1/6	OMIM:275400
10908	PNPLA6	HP:0001251	Ataxia	HP:0040283	ORPHA:2377
10908	PNPLA6	HP:0001251	Ataxia	-	OMIM:215470
10908	PNPLA6	HP:0001251	Ataxia	HP:0040281	ORPHA:1180
10908	PNPLA6	HP:0001251	Ataxia	HP:0040282	ORPHA:3363
10908	PNPLA6	HP:0001251	Ataxia	HP:0040281	ORPHA:1173
10908	PNPLA6	HP:0001251	Ataxia	HP:0040283	OMIM:612020
10908	PNPLA6	HP:0001251	Ataxia	3/4	OMIM:245800
10908	PNPLA6	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2377
10908	PNPLA6	HP:0001249	Intellectual disability	HP:0040282	ORPHA:3363
10908	PNPLA6	HP:0001249	Intellectual disability	1/7	OMIM:275400
10908	PNPLA6	HP:0001249	Intellectual disability	5/7	OMIM:615777
10908	PNPLA6	HP:0001249	Intellectual disability	4/4	OMIM:245800
10908	PNPLA6	HP:0001265	Hyporeflexia	1/1	OMIM:275400
10908	PNPLA6	HP:0001265	Hyporeflexia	11/11	OMIM:215470
10908	PNPLA6	HP:0001260	Dysarthria	1/1	OMIM:275400
10908	PNPLA6	HP:0001263	Global developmental delay	-	OMIM:615777
10908	PNPLA6	HP:0001258	Spastic paraplegia	HP:0040282	ORPHA:139480
10908	PNPLA6	HP:0001258	Spastic paraplegia	1/6	OMIM:275400
10908	PNPLA6	HP:0001258	Spastic paraplegia	-	OMIM:245800
10908	PNPLA6	HP:0001257	Spasticity	3/9	OMIM:215470
10908	PNPLA6	HP:0002558	Supernumerary nipple	HP:0040283	ORPHA:1173
10908	PNPLA6	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:2377
10908	PNPLA6	HP:0008736	Hypoplasia of penis	-	OMIM:275400
10908	PNPLA6	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:2377
10908	PNPLA6	HP:0002515	Waddling gait	54/102	OMIM:131300
10908	PNPLA6	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:2377
10908	PNPLA6	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:275400
10908	PNPLA6	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:1180
10908	PNPLA6	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:1173
10908	PNPLA6	HP:0000044	Hypogonadotropic hypogonadism	10/10	OMIM:215470
10908	PNPLA6	HP:0000046	Small scrotum	-	OMIM:245800
10908	PNPLA6	HP:0000054	Micropenis	4/5	OMIM:275400
10908	PNPLA6	HP:0000054	Micropenis	HP:0040283	ORPHA:3363
10908	PNPLA6	HP:0000054	Micropenis	-	OMIM:245800
10908	PNPLA6	HP:0001382	Joint hypermobility	-	OMIM:615777
10908	PNPLA6	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:139480
10908	PNPLA6	HP:0001347	Hyperreflexia	-	OMIM:612020
10908	PNPLA6	HP:0002694	Sclerosis of skull base	-	OMIM:131300
10908	PNPLA6	HP:0000028	Cryptorchidism	-	OMIM:275400
10908	PNPLA6	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:2377
10908	PNPLA6	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:3363
10908	PNPLA6	HP:0008897	Postnatal growth retardation	-	OMIM:615777
10908	PNPLA6	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
10908	PNPLA6	HP:0001324	Muscle weakness	40/96	OMIM:131300
10908	PNPLA6	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
10908	PNPLA6	HP:0000007	Autosomal recessive inheritance	-	OMIM:612020
10908	PNPLA6	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
10908	PNPLA6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
10908	PNPLA6	HP:0000007	Autosomal recessive inheritance	-	OMIM:245800
10908	PNPLA6	HP:0000007	Autosomal recessive inheritance	-	OMIM:215470
10908	PNPLA6	HP:0000007	Autosomal recessive inheritance	-	OMIM:275400
10908	PNPLA6	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
10908	PNPLA6	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
10908	PNPLA6	HP:0002650	Scoliosis	12/14	OMIM:131300
10908	PNPLA6	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
10908	PNPLA6	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:2377
10908	PNPLA6	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
10908	PNPLA6	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
10908	PNPLA6	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
10908	PNPLA6	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:3363
10908	PNPLA6	HP:0000175	Cleft palate	2/7	OMIM:615777
10908	PNPLA6	HP:0000144	Decreased fertility	HP:0040281	ORPHA:1173
10908	PNPLA6	HP:0000135	Hypogonadism	3/3	OMIM:275400
10908	PNPLA6	HP:0000135	Hypogonadism	HP:0040282	ORPHA:3363
10908	PNPLA6	HP:0000135	Hypogonadism	HP:0040281	ORPHA:1173
10908	PNPLA6	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
10908	PNPLA6	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
10908	PNPLA6	HP:0007598	Bilateral single transverse palmar creases	HP:0040283	ORPHA:2377
10908	PNPLA6	HP:0002750	Delayed skeletal maturation	5/5	OMIM:275400
10908	PNPLA6	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:3363
10908	PNPLA6	HP:0002007	Frontal bossing	HP:0040283	ORPHA:3363
10908	PNPLA6	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:2377
10908	PNPLA6	HP:0011808	Decreased patellar reflex	4/9	OMIM:215470
10908	PNPLA6	HP:0002080	Intention tremor	1/1	OMIM:275400
10908	PNPLA6	HP:0002080	Intention tremor	-	OMIM:215470
10908	PNPLA6	HP:0002066	Gait ataxia	HP:0040283	ORPHA:139480
10908	PNPLA6	HP:0002066	Gait ataxia	1/1	OMIM:275400
10908	PNPLA6	HP:0002066	Gait ataxia	9/10	OMIM:215470
10908	PNPLA6	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:139480
10908	PNPLA6	HP:0002061	Lower limb spasticity	3/9	OMIM:215470
10908	PNPLA6	HP:0002075	Dysdiadochokinesis	1/1	OMIM:215470
10908	PNPLA6	HP:0003388	Easy fatigability	36/76	OMIM:131300
10908	PNPLA6	HP:0010442	Polydactyly	0/7	OMIM:275400
10908	PNPLA6	HP:0010442	Polydactyly	0/4	OMIM:245800
10908	PNPLA6	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
10908	PNPLA6	HP:0003477	Peripheral axonal neuropathy	3/7	OMIM:275400
10908	PNPLA6	HP:0003487	Babinski sign	HP:0040282	ORPHA:139480
10908	PNPLA6	HP:0003487	Babinski sign	2/9	OMIM:215470
10908	PNPLA6	HP:0003487	Babinski sign	-	OMIM:612020
10908	PNPLA6	HP:0002127	Abnormal upper motor neuron morphology	HP:0040283	OMIM:215470
10908	PNPLA6	HP:0002168	Scanning speech	-	OMIM:215470
10908	PNPLA6	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1173
10908	PNPLA6	HP:0033206	Hyperactive Achilles reflex	0/7	OMIM:215470
10908	PNPLA6	HP:0008202	Reduced circulating prolactin concentration	1/1	OMIM:275400
10908	PNPLA6	HP:0007020	Progressive spastic paraplegia	-	OMIM:612020
10908	PNPLA6	HP:0007002	Motor axonal neuropathy	HP:0040282	ORPHA:139480
10908	PNPLA6	HP:0010627	Anterior pituitary hypoplasia	5/10	OMIM:215470
10908	PNPLA6	HP:0010627	Anterior pituitary hypoplasia	6/6	OMIM:275400
10908	PNPLA6	HP:0003510	Severe short stature	-	OMIM:275400
10908	PNPLA6	HP:0003510	Severe short stature	7/7	OMIM:615777
10908	PNPLA6	HP:0007083	Hyperactive patellar reflex	3/9	OMIM:215470
10908	PNPLA6	HP:0003693	Distal amyotrophy	-	OMIM:275400
10908	PNPLA6	HP:0003693	Distal amyotrophy	-	OMIM:612020
10908	PNPLA6	HP:0003693	Distal amyotrophy	5/9	OMIM:215470
10908	PNPLA6	HP:0003676	Progressive	-	OMIM:215470
10908	PNPLA6	HP:0002317	Unsteady gait	1/1	OMIM:275400
10908	PNPLA6	HP:0002315	Headache	-	OMIM:131300
10908	PNPLA6	HP:0004976	Knee dislocation	6/7	OMIM:615777
10908	PNPLA6	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:3363
10908	PNPLA6	HP:0009830	Peripheral neuropathy	3/4	OMIM:245800
10908	PNPLA6	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:2377
10908	PNPLA6	HP:0009803	Short phalanx of finger	-	OMIM:615777
10908	PNPLA6	HP:0009763	Limb pain	63/92	OMIM:131300
10908	PNPLA6	HP:0003621	Juvenile onset	8/19	OMIM:180100
10908	PNPLA6	HP:0003621	Juvenile onset	6/10	OMIM:215470
10908	PNPLA6	HP:0003621	Juvenile onset	-	OMIM:131300
10908	PNPLA6	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
10908	PNPLA6	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:1173
10908	PNPLA6	HP:0006855	Cerebellar vermis atrophy	1/1	OMIM:275400
10908	PNPLA6	HP:0006827	Atrophy of the spinal cord	HP:0040282	ORPHA:139480
10908	PNPLA6	HP:0006827	Atrophy of the spinal cord	-	OMIM:612020
10908	PNPLA6	HP:0009072	Decreased Achilles reflex	6/7	OMIM:215470
10908	PNPLA6	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
10908	PNPLA6	HP:0000639	Nystagmus	11/11	OMIM:275400
10908	PNPLA6	HP:0000639	Nystagmus	HP:0040283	ORPHA:2377
10908	PNPLA6	HP:0000639	Nystagmus	HP:0040281	ORPHA:1173
10908	PNPLA6	HP:0000639	Nystagmus	4/4	OMIM:245800
10908	PNPLA6	HP:6001056	Out-toeing	-	OMIM:131300
10908	PNPLA6	HP:0000651	Diplopia	-	OMIM:131300
10908	PNPLA6	HP:0000648	Optic atrophy	HP:0040281	ORPHA:1173
10908	PNPLA6	HP:0000613	Photophobia	-	OMIM:215470
10908	PNPLA6	HP:0000612	Iris coloboma	HP:0040283	ORPHA:2377
10908	PNPLA6	HP:0001956	Truncal obesity	2/7	OMIM:615777
10908	PNPLA6	HP:0001903	Anemia	HP:0040283	OMIM:131300
10908	PNPLA6	HP:0010049	Short metacarpal	-	OMIM:615777
10908	PNPLA6	HP:0009053	Distal lower limb muscle weakness	-	OMIM:612020
10908	PNPLA6	HP:0009055	Generalized limb muscle atrophy	HP:0040282	ORPHA:139480
10908	PNPLA6	HP:0000678	Dental crowding	-	OMIM:615777
10908	PNPLA6	HP:0000662	Nyctalopia	26/28	OMIM:180100
10908	PNPLA6	HP:0000670	Carious teeth	-	OMIM:131300
10908	PNPLA6	HP:0011304	Broad thumb	2/7	OMIM:615777
10908	PNPLA6	HP:0000668	Hypodontia	-	OMIM:615777
10908	PNPLA6	HP:0000664	Synophrys	-	OMIM:615777
10908	PNPLA6	HP:0004322	Short stature	HP:0040282	ORPHA:2377
10908	PNPLA6	HP:0004322	Short stature	HP:0040283	ORPHA:1173
10908	PNPLA6	HP:0004322	Short stature	7/7	OMIM:275400
10908	PNPLA6	HP:0004322	Short stature	4/4	OMIM:245800
10908	PNPLA6	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2377
10908	PNPLA6	HP:0004396	Poor appetite	-	OMIM:131300
10908	PNPLA6	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
10908	PNPLA6	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
10908	PNPLA6	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:1173
10908	PNPLA6	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
10908	PNPLA6	HP:0003026	Short long bone	7/7	OMIM:615777
10908	PNPLA6	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
10908	PNPLA6	HP:0000751	Personality changes	HP:0040283	ORPHA:1173
10908	PNPLA6	HP:0000771	Gynecomastia	HP:0040281	ORPHA:1173
10908	PNPLA6	HP:0000767	Pectus excavatum	2/7	OMIM:615777
10908	PNPLA6	HP:0000768	Pectus carinatum	1/7	OMIM:615777
10908	PNPLA6	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
10908	PNPLA6	HP:0000750	Delayed speech and language development	-	OMIM:615777
10908	PNPLA6	HP:0000726	Dementia	HP:0040283	ORPHA:1173
10908	PNPLA6	HP:0000708	Atypical behavior	HP:0040283	ORPHA:1173
10908	PNPLA6	HP:0011463	Childhood onset	3/19	OMIM:180100
10908	PNPLA6	HP:0011463	Childhood onset	4/9	OMIM:215470
10908	PNPLA6	HP:0011462	Young adult onset	1/1	OMIM:275400
10908	PNPLA6	HP:0011462	Young adult onset	8/19	OMIM:180100
10908	PNPLA6	HP:0011461	Fetal onset	7/7	OMIM:615777
10908	PNPLA6	HP:0000774	Narrow chest	2/7	OMIM:615777
10908	PNPLA6	HP:0000786	Primary amenorrhea	5/5	OMIM:215470
10908	PNPLA6	HP:0000926	Platyspondyly	1/7	OMIM:615777
10908	PNPLA6	HP:0003180	Flat acetabular roof	-	OMIM:615777
10908	PNPLA6	HP:0004482	Relative macrocephaly	-	OMIM:615777
10908	PNPLA6	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
10908	PNPLA6	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040281	ORPHA:1173
10908	PNPLA6	HP:0000821	Hypothyroidism	6/7	OMIM:275400
10908	PNPLA6	HP:0000821	Hypothyroidism	HP:0040282	ORPHA:3363
10908	PNPLA6	HP:0000824	Decreased response to growth hormone stimulation test	6/6	OMIM:275400
10908	PNPLA6	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:3363
10908	PNPLA6	HP:0000823	Delayed puberty	-	OMIM:275400
10908	PNPLA6	HP:0000823	Delayed puberty	-	OMIM:131300
10908	PNPLA6	HP:0000894	Short clavicles	-	OMIM:615777
10908	PNPLA6	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
10908	PNPLA6	HP:0003265	Neonatal hyperbilirubinemia	HP:0040282	ORPHA:3363
10908	PNPLA6	HP:0034323	Reduced circulating growth hormone concentration	7/7	OMIM:275400
10908	PNPLA6	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
10908	PNPLA6	HP:0008070	Sparse hair	3/3	OMIM:275400
10908	PNPLA6	HP:0008070	Sparse hair	HP:0040282	ORPHA:3363
10908	PNPLA6	HP:0040171	Decreased serum testosterone concentration	1/1	OMIM:215470
10908	PNPLA6	HP:0007722	Retinal pigment epithelial atrophy	1/1	OMIM:215470
10908	PNPLA6	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1173
10908	PNPLA6	HP:0000286	Epicanthus	HP:0040283	ORPHA:2377
10908	PNPLA6	HP:0000286	Epicanthus	1/7	OMIM:615777
10908	PNPLA6	HP:0000280	Coarse facial features	2/7	OMIM:615777
10908	PNPLA6	HP:0001596	Alopecia	2/6	OMIM:275400
10908	PNPLA6	HP:0001596	Alopecia	HP:0040282	ORPHA:3363
10908	PNPLA6	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
10908	PNPLA6	HP:0002827	Hip dislocation	3/7	OMIM:615777
10908	PNPLA6	HP:0000252	Microcephaly	HP:0040284	ORPHA:3363
10908	PNPLA6	HP:0000252	Microcephaly	-	OMIM:615777
10908	PNPLA6	HP:0000248	Brachycephaly	HP:0040283	ORPHA:1173
10908	PNPLA6	HP:0000248	Brachycephaly	HP:0040283	ORPHA:2377
10908	PNPLA6	HP:0002857	Genu valgum	-	OMIM:131300
10908	PNPLA6	HP:0001533	Slender build	-	OMIM:131300
10908	PNPLA6	HP:0001518	Small for gestational age	-	OMIM:275400
10908	PNPLA6	HP:0001518	Small for gestational age	HP:0040282	ORPHA:3363
10908	PNPLA6	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
10908	PNPLA6	HP:0001510	Growth delay	HP:0040282	ORPHA:3363
10908	PNPLA6	HP:0001513	Obesity	0/6	OMIM:275400
10908	PNPLA6	HP:0001513	Obesity	HP:0040281	ORPHA:2377
10908	PNPLA6	HP:0001513	Obesity	1/4	OMIM:245800
10908	PNPLA6	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
10908	PNPLA6	HP:0007818	Central heterochromia	-	OMIM:275400
10908	PNPLA6	HP:0007807	Optic nerve compression	-	OMIM:131300
10908	PNPLA6	HP:0012368	Flat face	7/7	OMIM:615777
10908	PNPLA6	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
10908	PNPLA6	HP:0000365	Hearing impairment	10/67	OMIM:131300
10908	PNPLA6	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:2377
10908	PNPLA6	HP:0011003	High myopia	1/1	OMIM:275400
10908	PNPLA6	HP:0000343	Long philtrum	1/7	OMIM:615777
10908	PNPLA6	HP:0011001	Increased bone mineral density	-	OMIM:131300
10908	PNPLA6	HP:0000311	Round face	2/7	OMIM:615777
10908	PNPLA6	HP:0002970	Genu varum	-	OMIM:615777
10908	PNPLA6	HP:0000303	Mandibular prognathia	-	OMIM:131300
10908	PNPLA6	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:2377
10908	PNPLA6	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
10908	PNPLA6	HP:0000486	Strabismus	HP:0040283	ORPHA:2377
10908	PNPLA6	HP:0000470	Short neck	1/7	OMIM:615777
10908	PNPLA6	HP:0001769	Broad foot	HP:0040283	OMIM:615777
10908	PNPLA6	HP:0001763	Pes planus	1/7	OMIM:615777
10908	PNPLA6	HP:0001761	Pes cavus	1/1	OMIM:275400
10908	PNPLA6	HP:0000518	Cataract	HP:0040283	ORPHA:2377
10908	PNPLA6	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
10908	PNPLA6	HP:0001840	Metatarsus adductus	-	OMIM:615777
10908	PNPLA6	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:1173
10908	PNPLA6	HP:0000529	Progressive visual loss	-	OMIM:215470
10908	PNPLA6	HP:0000527	Long eyelashes	9/9	OMIM:275400
10908	PNPLA6	HP:0000527	Long eyelashes	HP:0040282	ORPHA:3363
10908	PNPLA6	HP:0000520	Proptosis	2/4	OMIM:131300
10908	PNPLA6	HP:0000520	Proptosis	7/7	OMIM:615777
10908	PNPLA6	HP:0030339	Decreased circulating gonadotropin concentration	-	OMIM:215470
10908	PNPLA6	HP:0030344	Decreased circulating luteinizing hormone level	1/1	OMIM:215470
10908	PNPLA6	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1/1	OMIM:215470
10908	PNPLA6	HP:0000580	Pigmentary retinopathy	2/2	OMIM:275400
10908	PNPLA6	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:3363
10908	PNPLA6	HP:0000580	Pigmentary retinopathy	-	OMIM:245800
10908	PNPLA6	HP:0000575	Scotoma	5/18	OMIM:180100
10908	PNPLA6	HP:0000592	Blue sclerae	2/7	OMIM:615777
10908	PNPLA6	HP:0000556	Retinal dystrophy	-	OMIM:215470
10908	PNPLA6	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
10908	PNPLA6	HP:0000533	Chorioretinal atrophy	8/9	OMIM:215470
10908	PNPLA6	HP:0000533	Chorioretinal atrophy	3/4	OMIM:245800
10908	PNPLA6	HP:0000533	Chorioretinal atrophy	7/7	OMIM:275400
10908	PNPLA6	HP:0012514	Lower limb pain	4/4	OMIM:131300
10908	PNPLA6	HP:0000546	Retinal degeneration	1/1	OMIM:275400
10908	PNPLA6	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:3363
10908	PNPLA6	HP:0000543	Optic disc pallor	1/1	OMIM:180100
10908	PNPLA6	HP:0000545	Myopia	-	OMIM:180100
10908	PNPLA6	HP:0000545	Myopia	HP:0040283	ORPHA:3363
10913	EDAR	HP:0001106	Periorbital hyperpigmentation	1/1	OMIM:224900
10913	EDAR	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:248
10913	EDAR	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:1810
10913	EDAR	HP:0000007	Autosomal recessive inheritance	-	OMIM:224900
10913	EDAR	HP:0000006	Autosomal dominant inheritance	-	OMIM:129490
10913	EDAR	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:1810
10913	EDAR	HP:0006323	Premature loss of primary teeth	HP:0040281	ORPHA:248
10913	EDAR	HP:0006323	Premature loss of primary teeth	HP:0040281	ORPHA:1810
10913	EDAR	HP:0007607	Hypohidrotic ectodermal dysplasia	-	OMIM:224900
10913	EDAR	HP:0002007	Frontal bossing	-	OMIM:224900
10913	EDAR	HP:0002047	Malignant hyperthermia	HP:0040283	ORPHA:1810
10913	EDAR	HP:0002046	Heat intolerance	1/10	OMIM:129490
10913	EDAR	HP:0002046	Heat intolerance	1/1	OMIM:224900
10913	EDAR	HP:0002217	Slow-growing hair	-	OMIM:129490
10913	EDAR	HP:0002231	Sparse body hair	HP:0040281	ORPHA:1810
10913	EDAR	HP:0002213	Fine hair	-	OMIM:129490
10913	EDAR	HP:0002213	Fine hair	HP:0040281	ORPHA:248
10913	EDAR	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:248
10913	EDAR	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:1810
10913	EDAR	HP:0010803	Everted upper lip vermilion	-	OMIM:224900
10913	EDAR	HP:0000607	Periorbital wrinkles	1/1	OMIM:224900
10913	EDAR	HP:0000698	Conical tooth	1/1	OMIM:224900
10913	EDAR	HP:0000674	Anodontia	-	OMIM:129490
10913	EDAR	HP:0000674	Anodontia	-	OMIM:224900
10913	EDAR	HP:0000677	Oligodontia	1/1	OMIM:224900
10913	EDAR	HP:0000691	Microdontia	-	OMIM:129490
10913	EDAR	HP:0000691	Microdontia	1/1	OMIM:224900
10913	EDAR	HP:0000685	Hypoplasia of teeth	HP:0040281	ORPHA:248
10913	EDAR	HP:0000653	Sparse eyelashes	-	OMIM:129490
10913	EDAR	HP:0000653	Sparse eyelashes	1/1	OMIM:224900
10913	EDAR	HP:0000668	Hypodontia	2/10	OMIM:129490
10913	EDAR	HP:0000668	Hypodontia	-	OMIM:224900
10913	EDAR	HP:0000668	Hypodontia	HP:0040281	ORPHA:1810
10913	EDAR	HP:0011463	Childhood onset	1/1	OMIM:224900
10913	EDAR	HP:0045075	Sparse eyebrow	8/10	OMIM:129490
10913	EDAR	HP:0045075	Sparse eyebrow	1/1	OMIM:224900
10913	EDAR	HP:0000958	Dry skin	HP:0040281	ORPHA:248
10913	EDAR	HP:0000958	Dry skin	-	OMIM:129490
10913	EDAR	HP:0000970	Anhidrosis	-	OMIM:224900
10913	EDAR	HP:0000968	Ectodermal dysplasia	-	OMIM:129490
10913	EDAR	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:1810
10913	EDAR	HP:0000966	Hypohidrosis	10/10	OMIM:129490
10913	EDAR	HP:0000966	Hypohidrosis	1/1	OMIM:224900
10913	EDAR	HP:0000966	Hypohidrosis	HP:0040282	ORPHA:248
10913	EDAR	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:1810
10913	EDAR	HP:0000963	Thin skin	HP:0040281	ORPHA:1810
10913	EDAR	HP:0008070	Sparse hair	HP:0040281	ORPHA:1810
10913	EDAR	HP:0008070	Sparse hair	-	OMIM:129490
10913	EDAR	HP:0008070	Sparse hair	1/1	OMIM:224900
10913	EDAR	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:248
10913	EDAR	HP:0001596	Alopecia	HP:0040282	ORPHA:248
10913	EDAR	HP:0000232	Everted lower lip vermilion	-	OMIM:224900
10913	EDAR	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:248
10913	EDAR	HP:0006482	Abnormal dental morphology	HP:0040281	ORPHA:1810
10913	EDAR	HP:0005280	Depressed nasal bridge	1/1	OMIM:224900
10913	EDAR	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:1810
10913	EDAR	HP:0012471	Thick vermilion border	-	OMIM:224900
10913	EDAR	HP:0000457	Depressed nasal ridge	HP:0040283	ORPHA:1810
10913	EDAR	HP:0001807	Ridged nail	1/10	OMIM:129490
10913	EDAR	HP:0011220	Prominent forehead	HP:0040283	ORPHA:1810
10916	MAGED2	HP:0000103	Polyuria	-	OMIM:300971
10916	MAGED2	HP:0001419	X-linked recessive inheritance	-	OMIM:300971
10916	MAGED2	HP:0002150	Hypercalciuria	-	OMIM:300971
10916	MAGED2	HP:0003113	Hypochloremia	-	OMIM:300971
10916	MAGED2	HP:0000848	Increased circulating renin concentration	-	OMIM:300971
10916	MAGED2	HP:0001561	Polyhydramnios	-	OMIM:300971
10916	MAGED2	HP:0001563	Fetal polyuria	-	OMIM:300971
10916	MAGED2	HP:0002902	Hyponatremia	-	OMIM:300971
10916	MAGED2	HP:0002900	Hypokalemia	-	OMIM:300971
10916	MAGED2	HP:0001622	Premature birth	-	OMIM:300971
10916	MAGED2	HP:0012408	Medullary nephrocalcinosis	-	OMIM:300971
10935	PRDX3	HP:0001152	Saccadic smooth pursuit	4/5	OMIM:619862
10935	PRDX3	HP:0001272	Cerebellar atrophy	5/5	OMIM:619862
10935	PRDX3	HP:0001260	Dysarthria	5/5	OMIM:619862
10935	PRDX3	HP:0007366	Atrophy/Degeneration affecting the brainstem	1/5	OMIM:619862
10935	PRDX3	HP:0007338	Hypermetric saccades	4/5	OMIM:619862
10935	PRDX3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619862
10935	PRDX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:619871
10935	PRDX3	HP:0002015	Dysphagia	4/5	OMIM:619862
10935	PRDX3	HP:0002067	Bradykinesia	1/5	OMIM:619862
10935	PRDX3	HP:0002066	Gait ataxia	5/5	OMIM:619862
10935	PRDX3	HP:0002070	Limb ataxia	5/5	OMIM:619862
10935	PRDX3	HP:0003474	Somatic sensory dysfunction	0/5	OMIM:619862
10935	PRDX3	HP:0002174	Postural tremor	2/5	OMIM:619862
10935	PRDX3	HP:0003621	Juvenile onset	2/5	OMIM:619862
10935	PRDX3	HP:0003621	Juvenile onset	-	OMIM:619871
10935	PRDX3	HP:0000640	Gaze-evoked nystagmus	1/5	OMIM:619862
10935	PRDX3	HP:0011462	Young adult onset	3/5	OMIM:619862
10935	PRDX3	HP:0040129	Abnormal nerve conduction velocity	0/5	OMIM:619862
10935	PRDX3	HP:0045084	Limb myoclonus	1/5	OMIM:619862
10935	PRDX3	HP:0034327	Posterior corneal stroma punctiform multicolored opacities	-	OMIM:619871
10935	PRDX3	HP:0000338	Hypomimic face	1/5	OMIM:619862
10935	PRDX3	HP:0000473	Torticollis	2/5	OMIM:619862
10935	PRDX3	HP:0000508	Ptosis	1/5	OMIM:619862
10939	AFG3L2	HP:0002497	Spastic ataxia	-	OMIM:614487
10939	AFG3L2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
10939	AFG3L2	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0002451	Limb dystonia	HP:0040284	ORPHA:101109
10939	AFG3L2	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0001272	Cerebellar atrophy	1/1	OMIM:610246
10939	AFG3L2	HP:0001272	Cerebellar atrophy	1/1	OMIM:614487
10939	AFG3L2	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0001251	Ataxia	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0001251	Ataxia	2/2	OMIM:614487
10939	AFG3L2	HP:0001260	Dysarthria	HP:0040281	ORPHA:101109
10939	AFG3L2	HP:0001260	Dysarthria	9/11	OMIM:610246
10939	AFG3L2	HP:0001260	Dysarthria	2/2	OMIM:614487
10939	AFG3L2	HP:0001257	Spasticity	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0001257	Spasticity	HP:0040284	ORPHA:101109
10939	AFG3L2	HP:0001257	Spasticity	-	OMIM:610246
10939	AFG3L2	HP:0001257	Spasticity	2/2	OMIM:614487
10939	AFG3L2	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0007340	Lower limb muscle weakness	2/2	OMIM:614487
10939	AFG3L2	HP:0001332	Dystonia	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0001332	Dystonia	HP:0040284	ORPHA:101109
10939	AFG3L2	HP:0001332	Dystonia	HP:0040283	OMIM:610246
10939	AFG3L2	HP:0001332	Dystonia	1/1	OMIM:614487
10939	AFG3L2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
10939	AFG3L2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614487
10939	AFG3L2	HP:0000006	Autosomal dominant inheritance	-	OMIM:610246
10939	AFG3L2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
10939	AFG3L2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618977
10939	AFG3L2	HP:0001336	Myoclonus	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0001336	Myoclonus	2/2	OMIM:614487
10939	AFG3L2	HP:0001310	Dysmetria	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0001310	Dysmetria	1/1	OMIM:614487
10939	AFG3L2	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0001300	Parkinsonism	HP:0040283	OMIM:610246
10939	AFG3L2	HP:0001300	Parkinsonism	HP:0040283	ORPHA:101109
10939	AFG3L2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
10939	AFG3L2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
10939	AFG3L2	HP:0007663	Reduced visual acuity	1/1	OMIM:618977
10939	AFG3L2	HP:0007641	Dyschromatopsia	1/1	OMIM:618977
10939	AFG3L2	HP:0002015	Dysphagia	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0002015	Dysphagia	2/2	OMIM:614487
10939	AFG3L2	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:101109
10939	AFG3L2	HP:0100543	Cognitive impairment	HP:0040283	OMIM:614487
10939	AFG3L2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0002069	Bilateral tonic-clonic seizure	2/2	OMIM:614487
10939	AFG3L2	HP:0002066	Gait ataxia	11/11	OMIM:610246
10939	AFG3L2	HP:0002066	Gait ataxia	HP:0040281	ORPHA:101109
10939	AFG3L2	HP:0002063	Rigidity	HP:0040284	ORPHA:101109
10939	AFG3L2	HP:0002075	Dysdiadochokinesis	1/1	OMIM:614487
10939	AFG3L2	HP:0002075	Dysdiadochokinesis	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0002070	Limb ataxia	10/11	OMIM:610246
10939	AFG3L2	HP:0002070	Limb ataxia	HP:0040281	ORPHA:101109
10939	AFG3L2	HP:0003383	Onion bulb formation	1/1	OMIM:614487
10939	AFG3L2	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0003474	Somatic sensory dysfunction	0/6	OMIM:610246
10939	AFG3L2	HP:0003487	Babinski sign	HP:0040282	ORPHA:101109
10939	AFG3L2	HP:0003487	Babinski sign	4/8	OMIM:610246
10939	AFG3L2	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0002123	Generalized myoclonic seizure	2/2	OMIM:614487
10939	AFG3L2	HP:0011922	Abnormal activity of mitochondrial respiratory chain	0/4	OMIM:610246
10939	AFG3L2	HP:0003593	Infantile onset	1/2	OMIM:614487
10939	AFG3L2	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0002395	Lower limb hyperreflexia	HP:0040281	ORPHA:101109
10939	AFG3L2	HP:0002395	Lower limb hyperreflexia	9/10	OMIM:610246
10939	AFG3L2	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0003693	Distal amyotrophy	2/2	OMIM:614487
10939	AFG3L2	HP:0003676	Progressive	-	OMIM:614487
10939	AFG3L2	HP:0002353	EEG abnormality	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0002354	Memory impairment	HP:0040284	ORPHA:101109
10939	AFG3L2	HP:0002346	Head tremor	HP:0040284	ORPHA:101109
10939	AFG3L2	HP:0003677	Slowly progressive	-	OMIM:610246
10939	AFG3L2	HP:0002313	Spastic paraparesis	1/1	OMIM:614487
10939	AFG3L2	HP:0002313	Spastic paraparesis	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0007141	Sensorimotor neuropathy	1/1	OMIM:614487
10939	AFG3L2	HP:0007108	Demyelinating peripheral neuropathy	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0003621	Juvenile onset	8/19	OMIM:180100
10939	AFG3L2	HP:0003621	Juvenile onset	1/11	OMIM:610246
10939	AFG3L2	HP:0006895	Lower limb hypertonia	2/5	OMIM:610246
10939	AFG3L2	HP:0000640	Gaze-evoked nystagmus	5/11	OMIM:610246
10939	AFG3L2	HP:0000639	Nystagmus	HP:0040282	ORPHA:101109
10939	AFG3L2	HP:0000648	Optic atrophy	1/1	OMIM:618977
10939	AFG3L2	HP:0000641	Dysmetric saccades	4/4	OMIM:610246
10939	AFG3L2	HP:0000613	Photophobia	1/1	OMIM:618977
10939	AFG3L2	HP:0000662	Nyctalopia	26/28	OMIM:180100
10939	AFG3L2	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0000657	Oculomotor apraxia	1/1	OMIM:614487
10939	AFG3L2	HP:0000716	Depression	HP:0040284	ORPHA:101109
10939	AFG3L2	HP:0000708	Atypical behavior	HP:0040284	ORPHA:101109
10939	AFG3L2	HP:0030586	Abnormal Ishihara plate test	-	OMIM:618977
10939	AFG3L2	HP:0011463	Childhood onset	3/19	OMIM:180100
10939	AFG3L2	HP:0011463	Childhood onset	1/2	OMIM:614487
10939	AFG3L2	HP:0011462	Young adult onset	8/19	OMIM:180100
10939	AFG3L2	HP:0011462	Young adult onset	10/11	OMIM:610246
10939	AFG3L2	HP:0003200	Ragged-red muscle fibers	0/4	OMIM:610246
10939	AFG3L2	HP:0012240	Increased intramyocellular lipid droplets	-	OMIM:614487
10939	AFG3L2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
10939	AFG3L2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
10939	AFG3L2	HP:0030186	Kinetic tremor	HP:0040283	ORPHA:101109
10939	AFG3L2	HP:0000514	Slow saccadic eye movements	HP:0040282	ORPHA:101109
10939	AFG3L2	HP:0000514	Slow saccadic eye movements	6/10	OMIM:610246
10939	AFG3L2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
10939	AFG3L2	HP:0000508	Ptosis	HP:0040282	ORPHA:313772
10939	AFG3L2	HP:0000508	Ptosis	HP:0040282	ORPHA:101109
10939	AFG3L2	HP:0000508	Ptosis	6/10	OMIM:610246
10939	AFG3L2	HP:0000508	Ptosis	1/1	OMIM:614487
10939	AFG3L2	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:101109
10939	AFG3L2	HP:0000597	Ophthalmoparesis	8/11	OMIM:610246
10939	AFG3L2	HP:0000575	Scotoma	5/18	OMIM:180100
10939	AFG3L2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
10939	AFG3L2	HP:0000543	Optic disc pallor	1/1	OMIM:618977
10939	AFG3L2	HP:0000545	Myopia	-	OMIM:180100
10940	POP1	HP:0001156	Brachydactyly	-	OMIM:617396
10940	POP1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
10940	POP1	HP:0001293	Cranial nerve compression	-	OMIM:131300
10940	POP1	HP:0001252	Hypotonia	2/7	OMIM:615777
10940	POP1	HP:0001249	Intellectual disability	5/7	OMIM:615777
10940	POP1	HP:0001263	Global developmental delay	-	OMIM:615777
10940	POP1	HP:0100864	Short femoral neck	-	OMIM:617396
10940	POP1	HP:0002515	Waddling gait	54/102	OMIM:131300
10940	POP1	HP:0008802	Hypoplasia of the femoral head	-	OMIM:617396
10940	POP1	HP:0001371	Flexion contracture	-	OMIM:617396
10940	POP1	HP:0001382	Joint hypermobility	-	OMIM:615777
10940	POP1	HP:0002680	J-shaped sella turcica	1/1	OMIM:617396
10940	POP1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
10940	POP1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
10940	POP1	HP:0008824	Hypoplastic iliac body	-	OMIM:617396
10940	POP1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
10940	POP1	HP:0001324	Muscle weakness	40/96	OMIM:131300
10940	POP1	HP:0002673	Coxa valga	HP:0040283	OMIM:617396
10940	POP1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
10940	POP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
10940	POP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617396
10940	POP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
10940	POP1	HP:0002650	Scoliosis	12/14	OMIM:131300
10940	POP1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
10940	POP1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
10940	POP1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
10940	POP1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
10940	POP1	HP:0000158	Macroglossia	HP:0040283	OMIM:617396
10940	POP1	HP:0000175	Cleft palate	2/7	OMIM:615777
10940	POP1	HP:0002750	Delayed skeletal maturation	-	OMIM:617396
10940	POP1	HP:0003307	Hyperlordosis	-	OMIM:617396
10940	POP1	HP:0003300	Ovoid vertebral bodies	1/1	OMIM:617396
10940	POP1	HP:0011800	Midface retrusion	-	OMIM:617396
10940	POP1	HP:0003388	Easy fatigability	36/76	OMIM:131300
10940	POP1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
10940	POP1	HP:0003423	Thoracolumbar kyphoscoliosis	-	OMIM:617396
10940	POP1	HP:0002164	Nail dysplasia	HP:0040283	OMIM:617396
10940	POP1	HP:0003577	Congenital onset	2/2	OMIM:617396
10940	POP1	HP:0010646	Cervical spine instability	2/2	OMIM:617396
10940	POP1	HP:0003510	Severe short stature	7/7	OMIM:615777
10940	POP1	HP:0002315	Headache	-	OMIM:131300
10940	POP1	HP:0004976	Knee dislocation	6/7	OMIM:615777
10940	POP1	HP:0009803	Short phalanx of finger	-	OMIM:615777
10940	POP1	HP:0008444	Posterior wedging of vertebral bodies	1/1	OMIM:617396
10940	POP1	HP:0009763	Limb pain	63/92	OMIM:131300
10940	POP1	HP:0003621	Juvenile onset	-	OMIM:131300
10940	POP1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
10940	POP1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
10940	POP1	HP:6001056	Out-toeing	-	OMIM:131300
10940	POP1	HP:0000651	Diplopia	-	OMIM:131300
10940	POP1	HP:0001956	Truncal obesity	2/7	OMIM:615777
10940	POP1	HP:0001903	Anemia	HP:0040283	OMIM:131300
10940	POP1	HP:0010049	Short metacarpal	-	OMIM:615777
10940	POP1	HP:0000678	Dental crowding	-	OMIM:615777
10940	POP1	HP:0000670	Carious teeth	-	OMIM:131300
10940	POP1	HP:0011304	Broad thumb	2/7	OMIM:615777
10940	POP1	HP:0000668	Hypodontia	HP:0040283	OMIM:617396
10940	POP1	HP:0000668	Hypodontia	-	OMIM:615777
10940	POP1	HP:0000664	Synophrys	-	OMIM:615777
10940	POP1	HP:0004322	Short stature	-	OMIM:617396
10940	POP1	HP:0004396	Poor appetite	-	OMIM:131300
10940	POP1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
10940	POP1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
10940	POP1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
10940	POP1	HP:0003026	Short long bone	7/7	OMIM:615777
10940	POP1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
10940	POP1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
10940	POP1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
10940	POP1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
10940	POP1	HP:0000750	Delayed speech and language development	-	OMIM:615777
10940	POP1	HP:0011461	Fetal onset	7/7	OMIM:615777
10940	POP1	HP:0000774	Narrow chest	2/7	OMIM:615777
10940	POP1	HP:0000914	Shield chest	-	OMIM:617396
10940	POP1	HP:0000926	Platyspondyly	1/7	OMIM:615777
10940	POP1	HP:0003180	Flat acetabular roof	-	OMIM:615777
10940	POP1	HP:0004482	Relative macrocephaly	HP:0040283	OMIM:617396
10940	POP1	HP:0004482	Relative macrocephaly	-	OMIM:615777
10940	POP1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
10940	POP1	HP:0000823	Delayed puberty	-	OMIM:131300
10940	POP1	HP:0000894	Short clavicles	-	OMIM:615777
10940	POP1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
10940	POP1	HP:0100255	Metaphyseal dysplasia	2/2	OMIM:617396
10940	POP1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
10940	POP1	HP:0008070	Sparse hair	HP:0040283	OMIM:617396
10940	POP1	HP:0000286	Epicanthus	1/7	OMIM:615777
10940	POP1	HP:0000280	Coarse facial features	2/7	OMIM:615777
10940	POP1	HP:0002812	Coxa vara	-	OMIM:617396
10940	POP1	HP:0002827	Hip dislocation	3/7	OMIM:615777
10940	POP1	HP:0000252	Microcephaly	-	OMIM:615777
10940	POP1	HP:0002857	Genu valgum	-	OMIM:131300
10940	POP1	HP:0001533	Slender build	-	OMIM:131300
10940	POP1	HP:0001511	Intrauterine growth retardation	2/2	OMIM:617396
10940	POP1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
10940	POP1	HP:0007807	Optic nerve compression	-	OMIM:131300
10940	POP1	HP:0012368	Flat face	7/7	OMIM:615777
10940	POP1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
10940	POP1	HP:0000365	Hearing impairment	10/67	OMIM:131300
10940	POP1	HP:0000343	Long philtrum	1/7	OMIM:615777
10940	POP1	HP:0011001	Increased bone mineral density	-	OMIM:131300
10940	POP1	HP:0000311	Round face	2/7	OMIM:615777
10940	POP1	HP:0002970	Genu varum	-	OMIM:615777
10940	POP1	HP:0002967	Cubitus valgus	-	OMIM:617396
10940	POP1	HP:0000303	Mandibular prognathia	-	OMIM:131300
10940	POP1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
10940	POP1	HP:0001792	Small nail	HP:0040283	OMIM:617396
10940	POP1	HP:0000470	Short neck	HP:0040283	OMIM:617396
10940	POP1	HP:0000470	Short neck	1/7	OMIM:615777
10940	POP1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
10940	POP1	HP:0001763	Pes planus	1/7	OMIM:615777
10940	POP1	HP:0001840	Metatarsus adductus	-	OMIM:615777
10940	POP1	HP:0000520	Proptosis	2/4	OMIM:131300
10940	POP1	HP:0000520	Proptosis	7/7	OMIM:615777
10940	POP1	HP:0000592	Blue sclerae	2/7	OMIM:615777
10940	POP1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
10940	POP1	HP:0012514	Lower limb pain	4/4	OMIM:131300
10943	MSL3	HP:0001181	Adducted thumb	1/16	OMIM:301032
10943	MSL3	HP:0003764	Nevus	2/16	OMIM:301032
10943	MSL3	HP:0001290	Generalized hypotonia	13/16	OMIM:301032
10943	MSL3	HP:0001250	Seizure	1/16	OMIM:301032
10943	MSL3	HP:0001249	Intellectual disability	12/12	OMIM:301032
10943	MSL3	HP:0001263	Global developmental delay	16/16	OMIM:301032
10943	MSL3	HP:0001344	Absent speech	6/13	OMIM:301032
10943	MSL3	HP:0001423	X-linked dominant inheritance	-	OMIM:301032
10943	MSL3	HP:0002714	Downturned corners of mouth	9/16	OMIM:301032
10943	MSL3	HP:0002020	Gastroesophageal reflux	8/16	OMIM:301032
10943	MSL3	HP:0002119	Ventriculomegaly	-	OMIM:301032
10943	MSL3	HP:0002191	Progressive spasticity	10/16	OMIM:301032
10943	MSL3	HP:0011968	Feeding difficulties	13/15	OMIM:301032
10943	MSL3	HP:0002395	Lower limb hyperreflexia	8/16	OMIM:301032
10943	MSL3	HP:0001028	Hemangioma	2/16	OMIM:301032
10943	MSL3	HP:0010804	Tented upper lip vermilion	3/16	OMIM:301032
10943	MSL3	HP:0004279	Short palm	5/16	OMIM:301032
10943	MSL3	HP:0001998	Neonatal hypoglycemia	14/16	OMIM:301032
10943	MSL3	HP:0031936	Delayed ability to walk	16/16	OMIM:301032
10943	MSL3	HP:0100022	Abnormality of movement	2/15	OMIM:301032
10943	MSL3	HP:0000750	Delayed speech and language development	16/16	OMIM:301032
10943	MSL3	HP:0000708	Atypical behavior	9/14	OMIM:301032
10943	MSL3	HP:0012811	Wide nasal ridge	7/16	OMIM:301032
10943	MSL3	HP:0000826	Precocious puberty	1/11	OMIM:301032
10943	MSL3	HP:0000954	Single transverse palmar crease	4/16	OMIM:301032
10943	MSL3	HP:0000286	Epicanthus	9/16	OMIM:301032
10943	MSL3	HP:0000278	Retrognathia	3/16	OMIM:301032
10943	MSL3	HP:0000268	Dolichocephaly	1/16	OMIM:301032
10943	MSL3	HP:0012385	Camptodactyly	2/16	OMIM:301032
10943	MSL3	HP:0000384	Preauricular skin tag	1/16	OMIM:301032
10943	MSL3	HP:0000377	Abnormal pinna morphology	12/16	OMIM:301032
10943	MSL3	HP:0000365	Hearing impairment	1/15	OMIM:301032
10943	MSL3	HP:0000369	Low-set ears	6/16	OMIM:301032
10943	MSL3	HP:0000319	Smooth philtrum	4/16	OMIM:301032
10943	MSL3	HP:0000494	Downslanted palpebral fissures	10/16	OMIM:301032
10943	MSL3	HP:0000490	Deeply set eye	2/16	OMIM:301032
10943	MSL3	HP:0000463	Anteverted nares	4/16	OMIM:301032
10943	MSL3	HP:0012450	Chronic constipation	9/16	OMIM:301032
10943	MSL3	HP:0000470	Short neck	3/16	OMIM:301032
10943	MSL3	HP:0001773	Short foot	3/16	OMIM:301032
10943	MSL3	HP:0001769	Broad foot	1/16	OMIM:301032
10943	MSL3	HP:0000452	Choanal stenosis	1/16	OMIM:301032
10943	MSL3	HP:0000506	Telecanthus	11/16	OMIM:301032
10973	ASCC3	HP:0010862	Delayed fine motor development	4/8	OMIM:620700
10973	ASCC3	HP:0009882	Short distal phalanx of finger	1/11	OMIM:620700
10973	ASCC3	HP:0003701	Proximal muscle weakness	1/11	OMIM:620700
10973	ASCC3	HP:0001256	Intellectual disability, mild	4/4	OMIM:620700
10973	ASCC3	HP:0001250	Seizure	6/9	OMIM:620700
10973	ASCC3	HP:0001263	Global developmental delay	3/4	OMIM:620700
10973	ASCC3	HP:0001258	Spastic paraplegia	1/11	OMIM:620700
10973	ASCC3	HP:0001238	Slender finger	1/11	OMIM:620700
10973	ASCC3	HP:0008770	Obsessive-compulsive trait	4/10	OMIM:620700
10973	ASCC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:620700
10973	ASCC3	HP:0000189	Narrow palate	1/11	OMIM:620700
10973	ASCC3	HP:0000175	Cleft palate	1/11	OMIM:620700
10973	ASCC3	HP:0008936	Axial hypotonia	5/10	OMIM:620700
10973	ASCC3	HP:0002750	Delayed skeletal maturation	1/9	OMIM:620700
10973	ASCC3	HP:0002019	Constipation	2/9	OMIM:620700
10973	ASCC3	HP:0002015	Dysphagia	1/9	OMIM:620700
10973	ASCC3	HP:0003307	Hyperlordosis	1/11	OMIM:620700
10973	ASCC3	HP:0002194	Delayed gross motor development	3/3	OMIM:620700
10973	ASCC3	HP:0002162	Low posterior hairline	1/11	OMIM:620700
10973	ASCC3	HP:0010536	Central sleep apnea	1/11	OMIM:620700
10973	ASCC3	HP:0007018	Attention deficit hyperactivity disorder	2/9	OMIM:620700
10973	ASCC3	HP:0002376	Developmental regression	1/5	OMIM:620700
10973	ASCC3	HP:0004322	Short stature	1/9	OMIM:620700
10973	ASCC3	HP:0003025	Metaphyseal irregularity	1/11	OMIM:620700
10973	ASCC3	HP:0031936	Delayed ability to walk	7/8	OMIM:620700
10973	ASCC3	HP:0000739	Anxiety	2/9	OMIM:620700
10973	ASCC3	HP:0000750	Delayed speech and language development	1/11	OMIM:620700
10973	ASCC3	HP:0000717	Autism	2/5	OMIM:620700
10973	ASCC3	HP:0000938	Osteopenia	1/11	OMIM:620700
10973	ASCC3	HP:0002816	Genu recurvatum	1/11	OMIM:620700
10973	ASCC3	HP:0030084	Clinodactyly	1/11	OMIM:620700
10973	ASCC3	HP:0002808	Kyphosis	1/11	OMIM:620700
10973	ASCC3	HP:0001572	Macrodontia	3/9	OMIM:620700
10973	ASCC3	HP:0000252	Microcephaly	1/8	OMIM:620700
10973	ASCC3	HP:0000219	Thin upper lip vermilion	2/11	OMIM:620700
10973	ASCC3	HP:0001511	Intrauterine growth retardation	2/6	OMIM:620700
10973	ASCC3	HP:0012389	Appendicular hypotonia	3/9	OMIM:620700
10973	ASCC3	HP:0012378	Fatigue	2/11	OMIM:620700
10973	ASCC3	HP:0000358	Posteriorly rotated ears	1/11	OMIM:620700
10973	ASCC3	HP:0000348	High forehead	1/11	OMIM:620700
10973	ASCC3	HP:0000316	Hypertelorism	1/11	OMIM:620700
10973	ASCC3	HP:0000307	Pointed chin	1/11	OMIM:620700
10973	ASCC3	HP:0000303	Mandibular prognathia	4/11	OMIM:620700
10973	ASCC3	HP:0005280	Depressed nasal bridge	1/11	OMIM:620700
10973	ASCC3	HP:0000486	Strabismus	2/9	OMIM:620700
10973	ASCC3	HP:0000463	Anteverted nares	1/11	OMIM:620700
10973	ASCC3	HP:0000470	Short neck	1/11	OMIM:620700
10973	ASCC3	HP:0001773	Short foot	1/11	OMIM:620700
10973	ASCC3	HP:0001763	Pes planus	1/11	OMIM:620700
10973	ASCC3	HP:0001761	Pes cavus	1/11	OMIM:620700
10973	ASCC3	HP:0000527	Long eyelashes	1/11	OMIM:620700
10973	ASCC3	HP:0000508	Ptosis	1/11	OMIM:620700
10973	ASCC3	HP:0001831	Short toe	1/11	OMIM:620700
10973	ASCC3	HP:0000574	Thick eyebrow	5/11	OMIM:620700
10973	ASCC3	HP:0000545	Myopia	6/9	OMIM:620700
10978	CLP1	HP:0001182	Tapered finger	2/2	OMIM:615803
10978	CLP1	HP:0010862	Delayed fine motor development	HP:0040281	ORPHA:411493
10978	CLP1	HP:0009879	Simplified gyral pattern	HP:0040283	ORPHA:411493
10978	CLP1	HP:0009879	Simplified gyral pattern	-	OMIM:615803
10978	CLP1	HP:0002421	Poor head control	HP:0040282	ORPHA:411493
10978	CLP1	HP:0001298	Encephalopathy	-	OMIM:615803
10978	CLP1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:411493
10978	CLP1	HP:0001276	Hypertonia	HP:0040282	ORPHA:411493
10978	CLP1	HP:0001250	Seizure	1/2	OMIM:615803
10978	CLP1	HP:0001250	Seizure	HP:0040282	ORPHA:411493
10978	CLP1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:411493
10978	CLP1	HP:0001263	Global developmental delay	2/2	OMIM:615803
10978	CLP1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:411493
10978	CLP1	HP:0001257	Spasticity	HP:0040282	ORPHA:411493
10978	CLP1	HP:0001257	Spasticity	1/2	OMIM:615803
10978	CLP1	HP:0002538	Abnormal cerebral cortex morphology	HP:0040282	ORPHA:411493
10978	CLP1	HP:0002553	Highly arched eyebrow	2/2	OMIM:615803
10978	CLP1	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:411493
10978	CLP1	HP:0002509	Limb hypertonia	4/4	OMIM:615803
10978	CLP1	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:411493
10978	CLP1	HP:0001347	Hyperreflexia	2/2	OMIM:615803
10978	CLP1	HP:0000028	Cryptorchidism	-	OMIM:615803
10978	CLP1	HP:0001344	Absent speech	1/2	OMIM:615803
10978	CLP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615803
10978	CLP1	HP:0008936	Axial hypotonia	2/2	OMIM:615803
10978	CLP1	HP:0025405	Visual fixation instability	HP:0040283	ORPHA:411493
10978	CLP1	HP:0002751	Kyphoscoliosis	2/2	OMIM:615803
10978	CLP1	HP:0002020	Gastroesophageal reflux	1/2	OMIM:615803
10978	CLP1	HP:0002019	Constipation	2/2	OMIM:615803
10978	CLP1	HP:0003396	Syringomyelia	1/2	OMIM:615803
10978	CLP1	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:615803
10978	CLP1	HP:0002120	Cerebral cortical atrophy	-	OMIM:615803
10978	CLP1	HP:0002119	Ventriculomegaly	2/2	OMIM:615803
10978	CLP1	HP:0002194	Delayed gross motor development	HP:0040281	ORPHA:411493
10978	CLP1	HP:0003593	Infantile onset	2/2	OMIM:615803
10978	CLP1	HP:0100704	Cerebral visual impairment	1/2	OMIM:615803
10978	CLP1	HP:0002280	Enlarged cisterna magna	2/2	OMIM:615803
10978	CLP1	HP:0011968	Feeding difficulties	2/2	OMIM:615803
10978	CLP1	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:411493
10978	CLP1	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:411493
10978	CLP1	HP:0009765	Low hanging columella	2/2	OMIM:615803
10978	CLP1	HP:0000639	Nystagmus	1/2	OMIM:615803
10978	CLP1	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:411493
10978	CLP1	HP:0000637	Long palpebral fissure	1/2	OMIM:615803
10978	CLP1	HP:0000648	Optic atrophy	HP:0040284	ORPHA:411493
10978	CLP1	HP:0000687	Widely spaced teeth	1/2	OMIM:615803
10978	CLP1	HP:0000664	Synophrys	1/2	OMIM:615803
10978	CLP1	HP:0000737	Irritability	HP:0040283	ORPHA:411493
10978	CLP1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:411493
10978	CLP1	HP:0003196	Short nose	-	OMIM:615803
10978	CLP1	HP:0034295	Reduced cerebral white matter volume	2/2	OMIM:615803
10978	CLP1	HP:0000817	Reduced eye contact	-	OMIM:615803
10978	CLP1	HP:0000253	Progressive microcephaly	-	OMIM:615803
10978	CLP1	HP:0000252	Microcephaly	-	OMIM:615803
10978	CLP1	HP:0000219	Thin upper lip vermilion	-	OMIM:615803
10978	CLP1	HP:0000218	High palate	-	OMIM:615803
10978	CLP1	HP:0001510	Growth delay	HP:0040282	ORPHA:411493
10978	CLP1	HP:0001510	Growth delay	-	OMIM:615803
10978	CLP1	HP:0000341	Narrow forehead	1/2	OMIM:615803
10978	CLP1	HP:0000486	Strabismus	2/2	OMIM:615803
10978	CLP1	HP:0000486	Strabismus	HP:0040284	ORPHA:411493
10978	CLP1	HP:0012448	Delayed myelination	-	OMIM:615803
10978	CLP1	HP:0000470	Short neck	1/2	OMIM:615803
10978	CLP1	HP:0000414	Bulbous nose	1/2	OMIM:615803
10978	CLP1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:411493
10978	CLP1	HP:0000431	Wide nasal bridge	2/2	OMIM:615803
10978	CLP1	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:411493
10978	CLP1	HP:0000430	Underdeveloped nasal alae	2/2	OMIM:615803
10978	CLP1	HP:0000527	Long eyelashes	HP:0040282	ORPHA:411493
10978	CLP1	HP:0000527	Long eyelashes	-	OMIM:615803
10978	CLP1	HP:0000520	Proptosis	-	OMIM:615803
10978	CLP1	HP:0000520	Proptosis	HP:0040282	ORPHA:411493
10978	CLP1	HP:0000505	Visual impairment	HP:0040284	ORPHA:411493
10978	CLP1	HP:0000565	Esotropia	-	OMIM:615803
10978	CLP1	HP:0000540	Hypermetropia	1/2	OMIM:615803
10982	MAPRE2	HP:0001182	Tapered finger	1/4	OMIM:616734
10982	MAPRE2	HP:0009909	Uplifted earlobe	1/4	OMIM:616734
10982	MAPRE2	HP:0008551	Microtia	1/4	OMIM:616734
10982	MAPRE2	HP:0001290	Generalized hypotonia	-	OMIM:616734
10982	MAPRE2	HP:0100807	Long fingers	HP:0040283	OMIM:616734
10982	MAPRE2	HP:0001270	Motor delay	-	OMIM:616734
10982	MAPRE2	HP:0001250	Seizure	2/4	OMIM:616734
10982	MAPRE2	HP:0001252	Hypotonia	-	OMIM:616734
10982	MAPRE2	HP:0001249	Intellectual disability	4/4	OMIM:616734
10982	MAPRE2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0007400	Irregular hyperpigmentation	HP:0040282	ORPHA:2505
10982	MAPRE2	HP:0000070	Ureterocele	1/4	OMIM:616734
10982	MAPRE2	HP:0000046	Small scrotum	-	OMIM:616734
10982	MAPRE2	HP:0000046	Small scrotum	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0000045	Abnormal scrotum morphology	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0000047	Hypospadias	-	OMIM:616734
10982	MAPRE2	HP:0000047	Hypospadias	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0000028	Cryptorchidism	-	OMIM:616734
10982	MAPRE2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0007522	Increased number of skin folds	HP:0040281	ORPHA:2505
10982	MAPRE2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616734
10982	MAPRE2	HP:0000160	Narrow mouth	1/4	OMIM:616734
10982	MAPRE2	HP:0000175	Cleft palate	3/4	OMIM:616734
10982	MAPRE2	HP:0000175	Cleft palate	HP:0040282	ORPHA:2505
10982	MAPRE2	HP:0004691	2-3 toe syndactyly	1/4	OMIM:616734
10982	MAPRE2	HP:0100560	Upper limb asymmetry	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:616734
10982	MAPRE2	HP:0034400	Circumferential skin creases on extremities	4/4	OMIM:616734
10982	MAPRE2	HP:0002119	Ventriculomegaly	2/2	OMIM:616734
10982	MAPRE2	HP:0003577	Congenital onset	4/4	OMIM:616734
10982	MAPRE2	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0001072	Thickened skin	HP:0040281	ORPHA:2505
10982	MAPRE2	HP:0004209	Clinodactyly of the 5th finger	1/4	OMIM:616734
10982	MAPRE2	HP:0004279	Short palm	1/4	OMIM:616734
10982	MAPRE2	HP:0000691	Microdontia	HP:0040283	OMIM:616734
10982	MAPRE2	HP:0000670	Carious teeth	-	OMIM:616734
10982	MAPRE2	HP:0000664	Synophrys	1/4	OMIM:616734
10982	MAPRE2	HP:0004322	Short stature	1/4	OMIM:616734
10982	MAPRE2	HP:0004322	Short stature	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0003011	Abnormality of the musculature	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0012745	Short palpebral fissure	3/4	OMIM:616734
10982	MAPRE2	HP:0000767	Pectus excavatum	HP:0040283	OMIM:616734
10982	MAPRE2	HP:0000750	Delayed speech and language development	-	OMIM:616734
10982	MAPRE2	HP:0000969	Edema	HP:0040281	ORPHA:2505
10982	MAPRE2	HP:0000286	Epicanthus	2/4	OMIM:616734
10982	MAPRE2	HP:0000286	Epicanthus	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0000294	Low anterior hairline	1/4	OMIM:616734
10982	MAPRE2	HP:0000276	Long face	1/4	OMIM:616734
10982	MAPRE2	HP:0000271	Abnormality of the face	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0000252	Microcephaly	1/4	OMIM:616734
10982	MAPRE2	HP:0000252	Microcephaly	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0000219	Thin upper lip vermilion	1/4	OMIM:616734
10982	MAPRE2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0012368	Flat face	2/4	OMIM:616734
10982	MAPRE2	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0000396	Overfolded helix	2/4	OMIM:616734
10982	MAPRE2	HP:0000358	Posteriorly rotated ears	2/4	OMIM:616734
10982	MAPRE2	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0000369	Low-set ears	3/4	OMIM:616734
10982	MAPRE2	HP:0000343	Long philtrum	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0000347	Micrognathia	-	OMIM:616734
10982	MAPRE2	HP:0000347	Micrognathia	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0000316	Hypertelorism	1/4	OMIM:616734
10982	MAPRE2	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0006610	Wide intermamillary distance	1/4	OMIM:616734
10982	MAPRE2	HP:0005280	Depressed nasal bridge	1/4	OMIM:616734
10982	MAPRE2	HP:0000486	Strabismus	1/4	OMIM:616734
10982	MAPRE2	HP:0000482	Microcornea	-	OMIM:616734
10982	MAPRE2	HP:0000482	Microcornea	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0000494	Downslanted palpebral fissures	1/4	OMIM:616734
10982	MAPRE2	HP:0000488	Retinopathy	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0000475	Broad neck	-	OMIM:616734
10982	MAPRE2	HP:0000470	Short neck	1/4	OMIM:616734
10982	MAPRE2	HP:0001763	Pes planus	HP:0040283	OMIM:616734
10982	MAPRE2	HP:0000431	Wide nasal bridge	4/4	OMIM:616734
10982	MAPRE2	HP:0006768	Localized neuroblastoma	HP:0040283	ORPHA:2505
10982	MAPRE2	HP:0000508	Ptosis	1/4	OMIM:616734
10982	MAPRE2	HP:0000582	Upslanted palpebral fissure	2/4	OMIM:616734
10982	MAPRE2	HP:0000581	Blepharophimosis	HP:0040283	OMIM:616734
10982	MAPRE2	HP:0000568	Microphthalmia	4/4	OMIM:616734
10982	MAPRE2	HP:0000568	Microphthalmia	HP:0040283	ORPHA:2505
10984	KCNQ1OT1	HP:0002475	Myelomeningocele	HP:0040283	ORPHA:2128
10984	KCNQ1OT1	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:2128
10984	KCNQ1OT1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:2128
10984	KCNQ1OT1	HP:0000076	Vesicoureteral reflux	-	OMIM:130650
10984	KCNQ1OT1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2128
10984	KCNQ1OT1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2128
10984	KCNQ1OT1	HP:0000028	Cryptorchidism	-	OMIM:130650
10984	KCNQ1OT1	HP:0002667	Nephroblastoma	HP:0040283	ORPHA:2128
10984	KCNQ1OT1	HP:0002667	Nephroblastoma	-	OMIM:130650
10984	KCNQ1OT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:130650
10984	KCNQ1OT1	HP:0001305	Dandy-Walker malformation	HP:0040283	OMIM:130650
10984	KCNQ1OT1	HP:0002650	Scoliosis	HP:0040281	ORPHA:2128
10984	KCNQ1OT1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:2128
10984	KCNQ1OT1	HP:0000158	Macroglossia	-	OMIM:130650
10984	KCNQ1OT1	HP:0000150	Gonadoblastoma	-	OMIM:130650
10984	KCNQ1OT1	HP:0006277	Pancreatic hyperplasia	-	OMIM:130650
10984	KCNQ1OT1	HP:0000121	Nephrocalcinosis	-	OMIM:130650
10984	KCNQ1OT1	HP:0000105	Enlarged kidney	-	OMIM:130650
10984	KCNQ1OT1	HP:0011800	Midface retrusion	-	OMIM:130650
10984	KCNQ1OT1	HP:0008186	Adrenocortical cytomegaly	-	OMIM:130650
10984	KCNQ1OT1	HP:0002240	Hepatomegaly	-	OMIM:130650
10984	KCNQ1OT1	HP:0001052	Nevus flammeus	-	OMIM:130650
10984	KCNQ1OT1	HP:0008523	Posterior helix pit	-	OMIM:130650
10984	KCNQ1OT1	HP:0032165	Placental mesenchymal dysplasia	-	OMIM:130650
10984	KCNQ1OT1	HP:0001998	Neonatal hypoglycemia	-	OMIM:130650
10984	KCNQ1OT1	HP:0005616	Accelerated skeletal maturation	-	OMIM:130650
10984	KCNQ1OT1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2128
10984	KCNQ1OT1	HP:0000803	Renal cortical cysts	-	OMIM:130650
10984	KCNQ1OT1	HP:0000787	Nephrolithiasis	-	OMIM:130650
10984	KCNQ1OT1	HP:0003247	Overgrowth of external genitalia	-	OMIM:130650
10984	KCNQ1OT1	HP:0000280	Coarse facial features	-	OMIM:130650
10984	KCNQ1OT1	HP:0000269	Prominent occiput	-	OMIM:130650
10984	KCNQ1OT1	HP:0000239	Large fontanelles	-	OMIM:130650
10984	KCNQ1OT1	HP:0002884	Hepatoblastoma	-	OMIM:130650
10984	KCNQ1OT1	HP:0001548	Overgrowth	-	OMIM:130650
10984	KCNQ1OT1	HP:0001555	Asymmetry of the thorax	HP:0040281	ORPHA:2128
10984	KCNQ1OT1	HP:0001528	Hemihypertrophy	-	OMIM:130650
10984	KCNQ1OT1	HP:0001528	Hemihypertrophy	HP:0040281	ORPHA:2128
10984	KCNQ1OT1	HP:0001540	Diastasis recti	-	OMIM:130650
10984	KCNQ1OT1	HP:0001539	Omphalocele	-	OMIM:130650
10984	KCNQ1OT1	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:2128
10984	KCNQ1OT1	HP:0001640	Cardiomegaly	-	OMIM:130650
10984	KCNQ1OT1	HP:0001638	Cardiomyopathy	-	OMIM:130650
10984	KCNQ1OT1	HP:0006744	Adrenocortical carcinoma	-	OMIM:130650
10984	KCNQ1OT1	HP:0005487	Prominent metopic ridge	-	OMIM:130650
10984	KCNQ1OT1	HP:0000520	Proptosis	-	OMIM:130650
10991	SLC38A3	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
10991	SLC38A3	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
10991	SLC38A3	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0001250	Seizure	HP:0040282	ORPHA:442835
10991	SLC38A3	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
10991	SLC38A3	HP:0001249	Intellectual disability	10/10	OMIM:619881
10991	SLC38A3	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
10991	SLC38A3	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
10991	SLC38A3	HP:0001263	Global developmental delay	10/10	OMIM:619881
10991	SLC38A3	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/8	OMIM:619881
10991	SLC38A3	HP:0002540	Inability to walk	9/10	OMIM:619881
10991	SLC38A3	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
10991	SLC38A3	HP:0001347	Hyperreflexia	4/10	OMIM:619881
10991	SLC38A3	HP:0001344	Absent speech	10/10	OMIM:619881
10991	SLC38A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619881
10991	SLC38A3	HP:0001337	Tremor	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0008936	Axial hypotonia	10/10	OMIM:619881
10991	SLC38A3	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0002020	Gastroesophageal reflux	2/10	OMIM:619881
10991	SLC38A3	HP:0002069	Bilateral tonic-clonic seizure	3/8	OMIM:619881
10991	SLC38A3	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0002123	Generalized myoclonic seizure	1/8	OMIM:619881
10991	SLC38A3	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
10991	SLC38A3	HP:0003593	Infantile onset	8/10	OMIM:619881
10991	SLC38A3	HP:0002240	Hepatomegaly	1/10	OMIM:619881
10991	SLC38A3	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0200134	Epileptic encephalopathy	5/10	OMIM:619881
10991	SLC38A3	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
10991	SLC38A3	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
10991	SLC38A3	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0010821	Focal emotional seizure with laughing	1/8	OMIM:619881
10991	SLC38A3	HP:0003623	Neonatal onset	1/10	OMIM:619881
10991	SLC38A3	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
10991	SLC38A3	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0004322	Short stature	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
10991	SLC38A3	HP:0000717	Autism	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0000708	Atypical behavior	6/10	OMIM:619881
10991	SLC38A3	HP:0011463	Childhood onset	1/10	OMIM:619881
10991	SLC38A3	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
10991	SLC38A3	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0000252	Microcephaly	8/10	OMIM:619881
10991	SLC38A3	HP:0032663	Focal motor status epilepticus	1/8	OMIM:619881
10991	SLC38A3	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
10991	SLC38A3	HP:0001696	Situs inversus totalis	1/10	OMIM:619881
10991	SLC38A3	HP:0032792	Tonic seizure	2/8	OMIM:619881
10991	SLC38A3	HP:0000348	High forehead	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0001631	Atrial septal defect	1/10	OMIM:619881
10991	SLC38A3	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0012450	Chronic constipation	7/10	OMIM:619881
10991	SLC38A3	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
10991	SLC38A3	HP:0000505	Visual impairment	9/10	OMIM:619881
10991	SLC38A3	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
10991	SLC38A3	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
10991	SLC38A3	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
10992	SF3B2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
10992	SF3B2	HP:0001140	Limbal dermoid	11/18	OMIM:164210
10992	SF3B2	HP:0008605	Unilateral external ear deformity	-	OMIM:164210
10992	SF3B2	HP:0009944	Partial duplication of thumb phalanx	1/8	OMIM:164210
10992	SF3B2	HP:0009892	Anotia	-	OMIM:164210
10992	SF3B2	HP:0008551	Microtia	3/8	OMIM:164210
10992	SF3B2	HP:0001274	Agenesis of corpus callosum	-	OMIM:164210
10992	SF3B2	HP:0001249	Intellectual disability	-	OMIM:164210
10992	SF3B2	HP:0000086	Ectopic kidney	-	OMIM:164210
10992	SF3B2	HP:0000076	Vesicoureteral reflux	-	OMIM:164210
10992	SF3B2	HP:0000074	Ureteropelvic junction obstruction	-	OMIM:164210
10992	SF3B2	HP:0012020	Right aortic arch	1/8	OMIM:164210
10992	SF3B2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
10992	SF3B2	HP:0000003	Multicystic kidney dysplasia	-	OMIM:164210
10992	SF3B2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
10992	SF3B2	HP:0000006	Autosomal dominant inheritance	-	OMIM:164210
10992	SF3B2	HP:0002650	Scoliosis	1/8	OMIM:164210
10992	SF3B2	HP:0000175	Cleft palate	-	OMIM:164210
10992	SF3B2	HP:0000154	Wide mouth	-	OMIM:164210
10992	SF3B2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
10992	SF3B2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
10992	SF3B2	HP:0000104	Renal agenesis	-	OMIM:164210
10992	SF3B2	HP:0004660	Hypoplasia of facial musculature	-	OMIM:164210
10992	SF3B2	HP:0003305	Block vertebrae	-	OMIM:164210
10992	SF3B2	HP:0002089	Pulmonary hypoplasia	-	OMIM:164210
10992	SF3B2	HP:0002085	Occipital encephalocele	-	OMIM:164210
10992	SF3B2	HP:0003577	Congenital onset	8/8	OMIM:164210
10992	SF3B2	HP:0008417	Vertebral hypoplasia	-	OMIM:164210
10992	SF3B2	HP:0100731	Transverse facial cleft	3/8	OMIM:164210
10992	SF3B2	HP:0009794	Branchial anomaly	-	OMIM:164210
10992	SF3B2	HP:0002308	Chiari malformation	-	OMIM:164210
10992	SF3B2	HP:0003621	Juvenile onset	8/19	OMIM:180100
10992	SF3B2	HP:0000636	Upper eyelid coloboma	1/8	OMIM:164210
10992	SF3B2	HP:0000646	Amblyopia	1/8	OMIM:164210
10992	SF3B2	HP:0011342	Mild global developmental delay	3/8	OMIM:164210
10992	SF3B2	HP:0011332	Hemifacial hypoplasia	-	OMIM:164210
10992	SF3B2	HP:0000662	Nyctalopia	26/28	OMIM:180100
10992	SF3B2	HP:0011463	Childhood onset	3/19	OMIM:180100
10992	SF3B2	HP:0011462	Young adult onset	8/19	OMIM:180100
10992	SF3B2	HP:0000891	Cervical ribs	3/8	OMIM:164210
10992	SF3B2	HP:0000272	Malar flattening	-	OMIM:164210
10992	SF3B2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
10992	SF3B2	HP:0000238	Hydrocephalus	-	OMIM:164210
10992	SF3B2	HP:0002857	Genu valgum	1/8	OMIM:164210
10992	SF3B2	HP:0000204	Cleft upper lip	-	OMIM:164210
10992	SF3B2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
10992	SF3B2	HP:0000384	Preauricular skin tag	5/8	OMIM:164210
10992	SF3B2	HP:0002937	Hemivertebrae	-	OMIM:164210
10992	SF3B2	HP:0001680	Coarctation of aorta	-	OMIM:164210
10992	SF3B2	HP:0000347	Micrognathia	16/18	OMIM:164210
10992	SF3B2	HP:0001643	Patent ductus arteriosus	-	OMIM:164210
10992	SF3B2	HP:0000327	Hypoplasia of the maxilla	5/8	OMIM:164210
10992	SF3B2	HP:0000324	Facial asymmetry	6/8	OMIM:164210
10992	SF3B2	HP:0001629	Ventricular septal defect	1/8	OMIM:164210
10992	SF3B2	HP:0001636	Tetralogy of Fallot	-	OMIM:164210
10992	SF3B2	HP:0000407	Sensorineural hearing impairment	-	OMIM:164210
10992	SF3B2	HP:0000405	Conductive hearing impairment	-	OMIM:164210
10992	SF3B2	HP:0000486	Strabismus	2/8	OMIM:164210
10992	SF3B2	HP:0000413	Atresia of the external auditory canal	1/8	OMIM:164210
10992	SF3B2	HP:0011272	Underdeveloped tragus	1/8	OMIM:164210
10992	SF3B2	HP:0011270	Duplicated tragus	2/8	OMIM:164210
10992	SF3B2	HP:0005439	Maxillozygomatic hypoplasia	2/8	OMIM:164210
10992	SF3B2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
10992	SF3B2	HP:0000528	Anophthalmia	-	OMIM:164210
10992	SF3B2	HP:0000508	Ptosis	2/8	OMIM:164210
10992	SF3B2	HP:0000581	Blepharophimosis	-	OMIM:164210
10992	SF3B2	HP:0000575	Scotoma	5/18	OMIM:180100
10992	SF3B2	HP:0000568	Microphthalmia	-	OMIM:164210
10992	SF3B2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
10992	SF3B2	HP:0000545	Myopia	-	OMIM:180100
10999	SLC27A4	HP:0007549	Desquamation of skin soon after birth	HP:0040281	ORPHA:88621
10999	SLC27A4	HP:0007502	Follicular hyperkeratosis	23/23	OMIM:608649
10999	SLC27A4	HP:0007503	Generalized ichthyosis	23/23	OMIM:608649
10999	SLC27A4	HP:0000007	Autosomal recessive inheritance	-	OMIM:608649
10999	SLC27A4	HP:0002643	Neonatal respiratory distress	HP:0040281	ORPHA:88621
10999	SLC27A4	HP:0500093	Food allergy	6/23	OMIM:608649
10999	SLC27A4	HP:0002099	Asthma	6/23	OMIM:608649
10999	SLC27A4	HP:0002293	Alopecia of scalp	2/23	OMIM:608649
10999	SLC27A4	HP:0011971	Dermatographic urticaria	-	OMIM:608649
10999	SLC27A4	HP:0001019	Erythroderma	23/23	OMIM:608649
10999	SLC27A4	HP:0025092	Epidermal acanthosis	10/10	OMIM:608649
10999	SLC27A4	HP:0012768	Neonatal asphyxia	17/17	OMIM:608649
10999	SLC27A4	HP:0003193	Allergic rhinitis	6/23	OMIM:608649
10999	SLC27A4	HP:0000989	Pruritus	23/23	OMIM:608649
10999	SLC27A4	HP:0000953	Hyperpigmentation of the skin	-	OMIM:608649
10999	SLC27A4	HP:0008064	Ichthyosis	HP:0040281	ORPHA:88621
10999	SLC27A4	HP:0001561	Polyhydramnios	9/9	OMIM:608649
10999	SLC27A4	HP:0001622	Premature birth	23/23	OMIM:608649
10999	SLC27A4	HP:0001622	Premature birth	HP:0040281	ORPHA:88621
10999	SLC27A4	HP:0025724	Caseous vernix-like desquamation	23/23	OMIM:608649
10999	SLC27A4	HP:0001880	Increased total eosinophil count	HP:0040281	ORPHA:88621
11005	SPINK5	HP:0009886	Trichorrhexis nodosa	HP:0040281	ORPHA:634
11005	SPINK5	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
11005	SPINK5	HP:0001293	Cranial nerve compression	-	OMIM:131300
11005	SPINK5	HP:0100806	Sepsis	5/9	OMIM:256500
11005	SPINK5	HP:0001250	Seizure	HP:0040282	ORPHA:634
11005	SPINK5	HP:0001252	Hypotonia	2/7	OMIM:615777
11005	SPINK5	HP:0001249	Intellectual disability	HP:0040282	ORPHA:634
11005	SPINK5	HP:0001249	Intellectual disability	5/7	OMIM:615777
11005	SPINK5	HP:0001263	Global developmental delay	HP:0040282	ORPHA:634
11005	SPINK5	HP:0001263	Global developmental delay	-	OMIM:615777
11005	SPINK5	HP:0001263	Global developmental delay	-	OMIM:256500
11005	SPINK5	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:634
11005	SPINK5	HP:0002515	Waddling gait	54/102	OMIM:131300
11005	SPINK5	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:634
11005	SPINK5	HP:0001382	Joint hypermobility	-	OMIM:615777
11005	SPINK5	HP:0002694	Sclerosis of skull base	-	OMIM:131300
11005	SPINK5	HP:0008897	Postnatal growth retardation	-	OMIM:615777
11005	SPINK5	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	9/9	OMIM:256500
11005	SPINK5	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	HP:0040281	ORPHA:634
11005	SPINK5	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
11005	SPINK5	HP:0001324	Muscle weakness	40/96	OMIM:131300
11005	SPINK5	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
11005	SPINK5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
11005	SPINK5	HP:0000007	Autosomal recessive inheritance	-	OMIM:256500
11005	SPINK5	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
11005	SPINK5	HP:0002650	Scoliosis	12/14	OMIM:131300
11005	SPINK5	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
11005	SPINK5	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
11005	SPINK5	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
11005	SPINK5	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
11005	SPINK5	HP:0000175	Cleft palate	2/7	OMIM:615777
11005	SPINK5	HP:0500093	Food allergy	7/9	OMIM:256500
11005	SPINK5	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:634
11005	SPINK5	HP:0002719	Recurrent infections	HP:0040283	ORPHA:634
11005	SPINK5	HP:0003355	Aminoaciduria	HP:0040283	ORPHA:634
11005	SPINK5	HP:0002024	Malabsorption	HP:0040281	ORPHA:634
11005	SPINK5	HP:0002099	Asthma	-	OMIM:256500
11005	SPINK5	HP:0002099	Asthma	HP:0040281	ORPHA:634
11005	SPINK5	HP:0002097	Emphysema	HP:0040282	ORPHA:634
11005	SPINK5	HP:0003388	Easy fatigability	36/76	OMIM:131300
11005	SPINK5	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
11005	SPINK5	HP:0004779	Brittle scalp hair	-	OMIM:256500
11005	SPINK5	HP:0004798	Recurrent infection of the gastrointestinal tract	6/9	OMIM:256500
11005	SPINK5	HP:0003577	Congenital onset	9/9	OMIM:256500
11005	SPINK5	HP:0002257	Chronic rhinitis	6/9	OMIM:256500
11005	SPINK5	HP:0002213	Fine hair	HP:0040281	ORPHA:634
11005	SPINK5	HP:0002209	Sparse scalp hair	-	OMIM:256500
11005	SPINK5	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:634
11005	SPINK5	HP:0002205	Recurrent respiratory infections	8/9	OMIM:256500
11005	SPINK5	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:634
11005	SPINK5	HP:0002299	Brittle hair	-	OMIM:256500
11005	SPINK5	HP:0032061	Severely increased total eosinophil count	-	OMIM:256500
11005	SPINK5	HP:0003510	Severe short stature	7/7	OMIM:615777
11005	SPINK5	HP:0001036	Parakeratosis	-	OMIM:256500
11005	SPINK5	HP:0001025	Urticaria	-	OMIM:256500
11005	SPINK5	HP:0001025	Urticaria	HP:0040281	ORPHA:634
11005	SPINK5	HP:0001019	Erythroderma	-	OMIM:256500
11005	SPINK5	HP:0001019	Erythroderma	HP:0040283	ORPHA:634
11005	SPINK5	HP:0002315	Headache	-	OMIM:131300
11005	SPINK5	HP:0004976	Knee dislocation	6/7	OMIM:615777
11005	SPINK5	HP:0100665	Angioedema	-	OMIM:256500
11005	SPINK5	HP:0009803	Short phalanx of finger	-	OMIM:615777
11005	SPINK5	HP:0009763	Limb pain	63/92	OMIM:131300
11005	SPINK5	HP:0003621	Juvenile onset	-	OMIM:131300
11005	SPINK5	HP:0004906	Hypernatremic dehydration	4/9	OMIM:256500
11005	SPINK5	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
11005	SPINK5	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
11005	SPINK5	HP:6001056	Out-toeing	-	OMIM:131300
11005	SPINK5	HP:0000651	Diplopia	-	OMIM:131300
11005	SPINK5	HP:0001944	Dehydration	HP:0040283	ORPHA:634
11005	SPINK5	HP:0001956	Truncal obesity	2/7	OMIM:615777
11005	SPINK5	HP:0001903	Anemia	HP:0040283	OMIM:131300
11005	SPINK5	HP:0010049	Short metacarpal	-	OMIM:615777
11005	SPINK5	HP:0000678	Dental crowding	-	OMIM:615777
11005	SPINK5	HP:0000653	Sparse eyelashes	HP:0040283	ORPHA:634
11005	SPINK5	HP:0000670	Carious teeth	-	OMIM:131300
11005	SPINK5	HP:0011304	Broad thumb	2/7	OMIM:615777
11005	SPINK5	HP:0000668	Hypodontia	-	OMIM:615777
11005	SPINK5	HP:0000664	Synophrys	-	OMIM:615777
11005	SPINK5	HP:0004322	Short stature	HP:0040283	ORPHA:634
11005	SPINK5	HP:0004315	Decreased circulating IgG concentration	-	OMIM:256500
11005	SPINK5	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040282	ORPHA:634
11005	SPINK5	HP:0004396	Poor appetite	-	OMIM:131300
11005	SPINK5	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
11005	SPINK5	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
11005	SPINK5	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
11005	SPINK5	HP:0003026	Short long bone	7/7	OMIM:615777
11005	SPINK5	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
11005	SPINK5	HP:0000767	Pectus excavatum	2/7	OMIM:615777
11005	SPINK5	HP:0000768	Pectus carinatum	1/7	OMIM:615777
11005	SPINK5	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
11005	SPINK5	HP:0000750	Delayed speech and language development	-	OMIM:615777
11005	SPINK5	HP:0011473	Villous atrophy	-	OMIM:256500
11005	SPINK5	HP:0011461	Fetal onset	7/7	OMIM:615777
11005	SPINK5	HP:0000774	Narrow chest	2/7	OMIM:615777
11005	SPINK5	HP:0003193	Allergic rhinitis	-	OMIM:256500
11005	SPINK5	HP:0000926	Platyspondyly	1/7	OMIM:615777
11005	SPINK5	HP:0003180	Flat acetabular roof	-	OMIM:615777
11005	SPINK5	HP:0004482	Relative macrocephaly	-	OMIM:615777
11005	SPINK5	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
11005	SPINK5	HP:0100326	Immunologic hypersensitivity	HP:0040281	ORPHA:634
11005	SPINK5	HP:0000823	Delayed puberty	-	OMIM:131300
11005	SPINK5	HP:0000894	Short clavicles	-	OMIM:615777
11005	SPINK5	HP:0003212	Increased circulating IgE concentration	-	OMIM:256500
11005	SPINK5	HP:0003212	Increased circulating IgE concentration	HP:0040281	ORPHA:634
11005	SPINK5	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
11005	SPINK5	HP:0045075	Sparse eyebrow	-	OMIM:256500
11005	SPINK5	HP:0045075	Sparse eyebrow	HP:0040283	ORPHA:634
11005	SPINK5	HP:0000988	Skin rash	HP:0040283	ORPHA:634
11005	SPINK5	HP:0000958	Dry skin	HP:0040283	ORPHA:634
11005	SPINK5	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
11005	SPINK5	HP:0000956	Acanthosis nigricans	HP:0040281	ORPHA:634
11005	SPINK5	HP:0000964	Eczematoid dermatitis	8/9	OMIM:256500
11005	SPINK5	HP:0000964	Eczematoid dermatitis	HP:0040281	ORPHA:634
11005	SPINK5	HP:0008064	Ichthyosis	HP:0040281	ORPHA:634
11005	SPINK5	HP:0000286	Epicanthus	1/7	OMIM:615777
11005	SPINK5	HP:0000280	Coarse facial features	2/7	OMIM:615777
11005	SPINK5	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:634
11005	SPINK5	HP:0002827	Hip dislocation	3/7	OMIM:615777
11005	SPINK5	HP:0000252	Microcephaly	-	OMIM:615777
11005	SPINK5	HP:0001581	Recurrent skin infections	9/9	OMIM:256500
11005	SPINK5	HP:0002857	Genu valgum	-	OMIM:131300
11005	SPINK5	HP:0001533	Slender build	-	OMIM:131300
11005	SPINK5	HP:0001508	Failure to thrive	3/9	OMIM:256500
11005	SPINK5	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
11005	SPINK5	HP:0007807	Optic nerve compression	-	OMIM:131300
11005	SPINK5	HP:0012368	Flat face	7/7	OMIM:615777
11005	SPINK5	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
11005	SPINK5	HP:0000365	Hearing impairment	10/67	OMIM:131300
11005	SPINK5	HP:0000343	Long philtrum	1/7	OMIM:615777
11005	SPINK5	HP:0011001	Increased bone mineral density	-	OMIM:131300
11005	SPINK5	HP:0000311	Round face	2/7	OMIM:615777
11005	SPINK5	HP:0002970	Genu varum	-	OMIM:615777
11005	SPINK5	HP:0000303	Mandibular prognathia	-	OMIM:131300
11005	SPINK5	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
11005	SPINK5	HP:0000470	Short neck	1/7	OMIM:615777
11005	SPINK5	HP:0011100	Intestinal atresia	HP:0040284	OMIM:256500
11005	SPINK5	HP:0001769	Broad foot	HP:0040283	OMIM:615777
11005	SPINK5	HP:0001763	Pes planus	1/7	OMIM:615777
11005	SPINK5	HP:0001840	Metatarsus adductus	-	OMIM:615777
11005	SPINK5	HP:0000520	Proptosis	2/4	OMIM:131300
11005	SPINK5	HP:0000520	Proptosis	7/7	OMIM:615777
11005	SPINK5	HP:0000592	Blue sclerae	2/7	OMIM:615777
11005	SPINK5	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
11005	SPINK5	HP:0012514	Lower limb pain	4/4	OMIM:131300
11011	TLK2	HP:0001156	Brachydactyly	1/2	OMIM:618050
11011	TLK2	HP:0001195	Single umbilical artery	1/2	OMIM:618050
11011	TLK2	HP:0025161	Frequent temper tantrums	1/2	OMIM:618050
11011	TLK2	HP:0001290	Generalized hypotonia	-	OMIM:618050
11011	TLK2	HP:0001270	Motor delay	2/2	OMIM:618050
11011	TLK2	HP:0001250	Seizure	-	OMIM:618050
11011	TLK2	HP:0001249	Intellectual disability	2/2	OMIM:618050
11011	TLK2	HP:0001263	Global developmental delay	2/2	OMIM:618050
11011	TLK2	HP:0001382	Joint hypermobility	-	OMIM:618050
11011	TLK2	HP:0001363	Craniosynostosis	-	OMIM:618050
11011	TLK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618050
11011	TLK2	HP:0002650	Scoliosis	1/2	OMIM:618050
11011	TLK2	HP:0000160	Narrow mouth	-	OMIM:618050
11011	TLK2	HP:0002019	Constipation	1/2	OMIM:618050
11011	TLK2	HP:0002014	Diarrhea	-	OMIM:618050
11011	TLK2	HP:0011800	Midface retrusion	1/2	OMIM:618050
11011	TLK2	HP:0003593	Infantile onset	11/12	OMIM:618050
11011	TLK2	HP:0003577	Congenital onset	1/2	OMIM:618050
11011	TLK2	HP:0002254	Intermittent diarrhea	1/2	OMIM:618050
11011	TLK2	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:618050
11011	TLK2	HP:0011968	Feeding difficulties	1/2	OMIM:618050
11011	TLK2	HP:0004322	Short stature	1/2	OMIM:618050
11011	TLK2	HP:0400000	Tall chin	-	OMIM:618050
11011	TLK2	HP:0000739	Anxiety	1/2	OMIM:618050
11011	TLK2	HP:0000750	Delayed speech and language development	2/2	OMIM:618050
11011	TLK2	HP:0000729	Autistic behavior	-	OMIM:618050
11011	TLK2	HP:0000722	Compulsive behaviors	-	OMIM:618050
11011	TLK2	HP:0005780	Absent fourth finger distal interphalangeal crease	1/2	OMIM:618050
11011	TLK2	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	1/2	OMIM:618050
11011	TLK2	HP:0000998	Hypertrichosis	-	OMIM:618050
11011	TLK2	HP:0000286	Epicanthus	1/2	OMIM:618050
11011	TLK2	HP:0000276	Long face	-	OMIM:618050
11011	TLK2	HP:0002808	Kyphosis	1/2	OMIM:618050
11011	TLK2	HP:0000252	Microcephaly	-	OMIM:618050
11011	TLK2	HP:0002883	Hyperventilation	1/2	OMIM:618050
11011	TLK2	HP:0000219	Thin upper lip vermilion	1/2	OMIM:618050
11011	TLK2	HP:0000218	High palate	-	OMIM:618050
11011	TLK2	HP:0001508	Failure to thrive	1/2	OMIM:618050
11011	TLK2	HP:0030051	Tip-toe gait	-	OMIM:618050
11011	TLK2	HP:0000388	Otitis media	-	OMIM:618050
11011	TLK2	HP:0001609	Hoarse voice	1/2	OMIM:618050
11011	TLK2	HP:0000358	Posteriorly rotated ears	-	OMIM:618050
11011	TLK2	HP:0000316	Hypertelorism	1/2	OMIM:618050
11011	TLK2	HP:0000307	Pointed chin	2/2	OMIM:618050
11011	TLK2	HP:0000486	Strabismus	1/2	OMIM:618050
11011	TLK2	HP:0000455	Broad nasal tip	1/2	OMIM:618050
11011	TLK2	HP:0001763	Pes planus	-	OMIM:618050
11011	TLK2	HP:0000426	Prominent nasal bridge	-	OMIM:618050
11011	TLK2	HP:0000506	Telecanthus	-	OMIM:618050
11011	TLK2	HP:0000508	Ptosis	2/2	OMIM:618050
11011	TLK2	HP:0000582	Upslanted palpebral fissure	2/2	OMIM:618050
11011	TLK2	HP:0000581	Blepharophimosis	1/2	OMIM:618050
11011	TLK2	HP:0000545	Myopia	1/2	OMIM:618050
11012	KLK11	HP:0007447	Diffuse palmoplantar hyperkeratosis	1/1	OMIM:620507
11012	KLK11	HP:0007431	Congenital ichthyosiform erythroderma	1/1	OMIM:620507
11012	KLK11	HP:0000006	Autosomal dominant inheritance	-	OMIM:620507
11012	KLK11	HP:0003577	Congenital onset	8/8	OMIM:620507
11012	KLK11	HP:0001036	Parakeratosis	1/1	OMIM:620507
11012	KLK11	HP:0001019	Erythroderma	1/1	OMIM:620507
11012	KLK11	HP:0025092	Epidermal acanthosis	-	OMIM:620507
11012	KLK11	HP:0010783	Erythema	1/1	OMIM:620507
11012	KLK11	HP:0000972	Palmoplantar hyperkeratosis	11/11	OMIM:620507
11012	KLK11	HP:0000989	Pruritus	-	OMIM:620507
11012	KLK11	HP:0000982	Palmoplantar keratoderma	-	OMIM:620507
11012	KLK11	HP:0000962	Hyperkeratosis	-	OMIM:620507
11012	KLK11	HP:0040189	Scaling skin	-	OMIM:620507
11012	KLK11	HP:0001820	Leukonychia	2/8	OMIM:620507
11012	KLK11	HP:0001803	Nail pits	2/8	OMIM:620507
11014	KDELR2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
11014	KDELR2	HP:0001293	Cranial nerve compression	-	OMIM:131300
11014	KDELR2	HP:0001270	Motor delay	-	OMIM:619131
11014	KDELR2	HP:0001256	Intellectual disability, mild	-	OMIM:259770
11014	KDELR2	HP:0001252	Hypotonia	2/6	OMIM:619131
11014	KDELR2	HP:0001252	Hypotonia	-	OMIM:259770
11014	KDELR2	HP:0001252	Hypotonia	2/7	OMIM:615777
11014	KDELR2	HP:0001249	Intellectual disability	5/7	OMIM:615777
11014	KDELR2	HP:0001263	Global developmental delay	1/1	OMIM:612394
11014	KDELR2	HP:0001263	Global developmental delay	-	OMIM:615777
11014	KDELR2	HP:0002515	Waddling gait	54/102	OMIM:131300
11014	KDELR2	HP:0001382	Joint hypermobility	-	OMIM:259770
11014	KDELR2	HP:0001382	Joint hypermobility	3/3	OMIM:619131
11014	KDELR2	HP:0001382	Joint hypermobility	-	OMIM:615777
11014	KDELR2	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
11014	KDELR2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
11014	KDELR2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
11014	KDELR2	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
11014	KDELR2	HP:0008873	Disproportionate short-limb short stature	4/4	OMIM:619131
11014	KDELR2	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
11014	KDELR2	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
11014	KDELR2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
11014	KDELR2	HP:0001324	Muscle weakness	40/96	OMIM:131300
11014	KDELR2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
11014	KDELR2	HP:0002673	Coxa valga	1/6	OMIM:619131
11014	KDELR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
11014	KDELR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
11014	KDELR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619131
11014	KDELR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
11014	KDELR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
11014	KDELR2	HP:0002650	Scoliosis	1/5	OMIM:259770
11014	KDELR2	HP:0002650	Scoliosis	1/1	OMIM:612394
11014	KDELR2	HP:0002650	Scoliosis	3/6	OMIM:619131
11014	KDELR2	HP:0002650	Scoliosis	12/14	OMIM:131300
11014	KDELR2	HP:0002645	Wormian bones	1/2	OMIM:619131
11014	KDELR2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
11014	KDELR2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
11014	KDELR2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
11014	KDELR2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
11014	KDELR2	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
11014	KDELR2	HP:0000175	Cleft palate	2/7	OMIM:615777
11014	KDELR2	HP:0002757	Recurrent fractures	4/5	OMIM:259770
11014	KDELR2	HP:0002757	Recurrent fractures	-	OMIM:619131
11014	KDELR2	HP:0002756	Pathologic fracture	-	OMIM:259770
11014	KDELR2	HP:0002756	Pathologic fracture	1/1	OMIM:612394
11014	KDELR2	HP:0002751	Kyphoscoliosis	-	OMIM:259770
11014	KDELR2	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
11014	KDELR2	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
11014	KDELR2	HP:0003388	Easy fatigability	36/76	OMIM:131300
11014	KDELR2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
11014	KDELR2	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
11014	KDELR2	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
11014	KDELR2	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
11014	KDELR2	HP:0002164	Nail dysplasia	1/1	OMIM:612394
11014	KDELR2	HP:0010557	Overlapping fingers	1/2	OMIM:612394
11014	KDELR2	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
11014	KDELR2	HP:0003593	Infantile onset	1/5	OMIM:259770
11014	KDELR2	HP:0003593	Infantile onset	1/5	OMIM:619131
11014	KDELR2	HP:0003577	Congenital onset	4/5	OMIM:259770
11014	KDELR2	HP:0002208	Coarse hair	1/1	OMIM:612394
11014	KDELR2	HP:0003510	Severe short stature	7/7	OMIM:615777
11014	KDELR2	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
11014	KDELR2	HP:0025019	Arterial rupture	1/1	OMIM:612394
11014	KDELR2	HP:0002315	Headache	-	OMIM:131300
11014	KDELR2	HP:0004976	Knee dislocation	6/7	OMIM:615777
11014	KDELR2	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
11014	KDELR2	HP:0009803	Short phalanx of finger	-	OMIM:615777
11014	KDELR2	HP:0001089	Iris atrophy	-	OMIM:259770
11014	KDELR2	HP:0009763	Limb pain	63/92	OMIM:131300
11014	KDELR2	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
11014	KDELR2	HP:0003621	Juvenile onset	-	OMIM:131300
11014	KDELR2	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
11014	KDELR2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
11014	KDELR2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
11014	KDELR2	HP:6001056	Out-toeing	-	OMIM:131300
11014	KDELR2	HP:0000651	Diplopia	-	OMIM:131300
11014	KDELR2	HP:0000618	Blindness	5/5	OMIM:259770
11014	KDELR2	HP:0001956	Truncal obesity	2/7	OMIM:615777
11014	KDELR2	HP:0001903	Anemia	HP:0040283	OMIM:131300
11014	KDELR2	HP:0010049	Short metacarpal	-	OMIM:615777
11014	KDELR2	HP:0000678	Dental crowding	-	OMIM:615777
11014	KDELR2	HP:0000670	Carious teeth	-	OMIM:131300
11014	KDELR2	HP:0011304	Broad thumb	2/7	OMIM:615777
11014	KDELR2	HP:0000668	Hypodontia	-	OMIM:615777
11014	KDELR2	HP:0000667	Phthisis bulbi	-	OMIM:259770
11014	KDELR2	HP:0000664	Synophrys	-	OMIM:615777
11014	KDELR2	HP:0004322	Short stature	-	OMIM:259770
11014	KDELR2	HP:0004396	Poor appetite	-	OMIM:131300
11014	KDELR2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
11014	KDELR2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
11014	KDELR2	HP:0003016	Metaphyseal widening	-	OMIM:259770
11014	KDELR2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
11014	KDELR2	HP:0003026	Short long bone	7/7	OMIM:615777
11014	KDELR2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
11014	KDELR2	HP:0000767	Pectus excavatum	2/6	OMIM:619131
11014	KDELR2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
11014	KDELR2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
11014	KDELR2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
11014	KDELR2	HP:0000750	Delayed speech and language development	-	OMIM:615777
11014	KDELR2	HP:0011463	Childhood onset	2/5	OMIM:619131
11014	KDELR2	HP:0011461	Fetal onset	7/7	OMIM:615777
11014	KDELR2	HP:0011461	Fetal onset	2/2	OMIM:612394
11014	KDELR2	HP:0011461	Fetal onset	2/5	OMIM:619131
11014	KDELR2	HP:0000774	Narrow chest	2/7	OMIM:615777
11014	KDELR2	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
11014	KDELR2	HP:0003196	Short nose	1/1	OMIM:612394
11014	KDELR2	HP:0000926	Platyspondyly	-	OMIM:259770
11014	KDELR2	HP:0000926	Platyspondyly	1/7	OMIM:615777
11014	KDELR2	HP:0000926	Platyspondyly	1/1	OMIM:612394
11014	KDELR2	HP:0000926	Platyspondyly	1/6	OMIM:619131
11014	KDELR2	HP:0003180	Flat acetabular roof	-	OMIM:615777
11014	KDELR2	HP:0004482	Relative macrocephaly	-	OMIM:615777
11014	KDELR2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
11014	KDELR2	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
11014	KDELR2	HP:0000823	Delayed puberty	-	OMIM:131300
11014	KDELR2	HP:0000894	Short clavicles	-	OMIM:615777
11014	KDELR2	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
11014	KDELR2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
11014	KDELR2	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
11014	KDELR2	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
11014	KDELR2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
11014	KDELR2	HP:0000939	Osteoporosis	4/5	OMIM:259770
11014	KDELR2	HP:0000939	Osteoporosis	3/3	OMIM:619131
11014	KDELR2	HP:0000938	Osteopenia	1/5	OMIM:259770
11014	KDELR2	HP:0000938	Osteopenia	1/1	OMIM:612394
11014	KDELR2	HP:0008081	Pes valgus	1/6	OMIM:619131
11014	KDELR2	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
11014	KDELR2	HP:0000286	Epicanthus	1/7	OMIM:615777
11014	KDELR2	HP:0000280	Coarse facial features	2/7	OMIM:615777
11014	KDELR2	HP:0001591	Bell-shaped thorax	1/6	OMIM:619131
11014	KDELR2	HP:0000272	Malar flattening	1/1	OMIM:612394
11014	KDELR2	HP:0007773	Vitreoretinopathy	-	OMIM:259770
11014	KDELR2	HP:0002812	Coxa vara	1/6	OMIM:619131
11014	KDELR2	HP:0002827	Hip dislocation	3/7	OMIM:615777
11014	KDELR2	HP:0002808	Kyphosis	1/5	OMIM:259770
11014	KDELR2	HP:0000252	Microcephaly	-	OMIM:259770
11014	KDELR2	HP:0000252	Microcephaly	-	OMIM:615777
11014	KDELR2	HP:0001552	Barrel-shaped chest	2/6	OMIM:619131
11014	KDELR2	HP:0001552	Barrel-shaped chest	-	OMIM:259770
11014	KDELR2	HP:0002857	Genu valgum	-	OMIM:131300
11014	KDELR2	HP:0001533	Slender build	-	OMIM:131300
11014	KDELR2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
11014	KDELR2	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
11014	KDELR2	HP:0007807	Optic nerve compression	-	OMIM:131300
11014	KDELR2	HP:0012368	Flat face	7/7	OMIM:615777
11014	KDELR2	HP:0012368	Flat face	1/1	OMIM:612394
11014	KDELR2	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
11014	KDELR2	HP:0007875	Congenital blindness	4/5	OMIM:259770
11014	KDELR2	HP:0007862	Retinal calcification	1/5	OMIM:259770
11014	KDELR2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
11014	KDELR2	HP:0006488	Bowing of the arm	3/6	OMIM:619131
11014	KDELR2	HP:0000365	Hearing impairment	10/67	OMIM:131300
11014	KDELR2	HP:0000369	Low-set ears	2/2	OMIM:612394
11014	KDELR2	HP:0000343	Long philtrum	1/7	OMIM:615777
11014	KDELR2	HP:0011001	Increased bone mineral density	-	OMIM:131300
11014	KDELR2	HP:0002982	Tibial bowing	1/5	OMIM:259770
11014	KDELR2	HP:0002979	Bowing of the legs	5/6	OMIM:619131
11014	KDELR2	HP:0000311	Round face	2/7	OMIM:615777
11014	KDELR2	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
11014	KDELR2	HP:0001629	Ventricular septal defect	-	OMIM:259770
11014	KDELR2	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
11014	KDELR2	HP:0002970	Genu varum	-	OMIM:615777
11014	KDELR2	HP:0000307	Pointed chin	1/2	OMIM:612394
11014	KDELR2	HP:0000303	Mandibular prognathia	-	OMIM:131300
11014	KDELR2	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
11014	KDELR2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
11014	KDELR2	HP:0000463	Anteverted nares	1/1	OMIM:612394
11014	KDELR2	HP:0000470	Short neck	1/7	OMIM:615777
11014	KDELR2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
11014	KDELR2	HP:0001763	Pes planus	1/7	OMIM:615777
11014	KDELR2	HP:0001763	Pes planus	1/6	OMIM:619131
11014	KDELR2	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
11014	KDELR2	HP:0000518	Cataract	1/5	OMIM:259770
11014	KDELR2	HP:0000518	Cataract	1/1	OMIM:612394
11014	KDELR2	HP:0001840	Metatarsus adductus	-	OMIM:615777
11014	KDELR2	HP:0000520	Proptosis	2/4	OMIM:131300
11014	KDELR2	HP:0000520	Proptosis	7/7	OMIM:615777
11014	KDELR2	HP:0000592	Blue sclerae	2/7	OMIM:615777
11014	KDELR2	HP:0000586	Shallow orbits	1/1	OMIM:612394
11014	KDELR2	HP:0000568	Microphthalmia	1/5	OMIM:259770
11014	KDELR2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
11014	KDELR2	HP:0012514	Lower limb pain	4/4	OMIM:131300
11014	KDELR2	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
11014	KDELR2	HP:0000545	Myopia	1/1	OMIM:612394
11019	LIAS	HP:0002415	Leukodystrophy	HP:0040283	OMIM:614462
11019	LIAS	HP:0001298	Encephalopathy	-	OMIM:614462
11019	LIAS	HP:0001290	Generalized hypotonia	-	OMIM:614462
11019	LIAS	HP:0001270	Motor delay	1/1	OMIM:614462
11019	LIAS	HP:0001250	Seizure	1/1	OMIM:614462
11019	LIAS	HP:0001252	Hypotonia	1/1	OMIM:614462
11019	LIAS	HP:0001263	Global developmental delay	1/1	OMIM:614462
11019	LIAS	HP:0002510	Spastic tetraplegia	1/1	OMIM:614462
11019	LIAS	HP:0000007	Autosomal recessive inheritance	-	OMIM:614462
11019	LIAS	HP:0001336	Myoclonus	-	OMIM:614462
11019	LIAS	HP:6000829	Reduced tissue glycine cleavage enzyme activity	2/2	OMIM:614462
11019	LIAS	HP:0002093	Respiratory insufficiency	1/1	OMIM:614462
11019	LIAS	HP:0002059	Cerebral atrophy	HP:0040283	OMIM:614462
11019	LIAS	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:614462
11019	LIAS	HP:0002104	Apnea	-	OMIM:614462
11019	LIAS	HP:0002181	Cerebral edema	1/1	OMIM:614462
11019	LIAS	HP:0011968	Feeding difficulties	1/1	OMIM:614462
11019	LIAS	HP:0002360	Sleep abnormality	1/1	OMIM:614462
11019	LIAS	HP:0003623	Neonatal onset	1/1	OMIM:614462
11019	LIAS	HP:0003128	Lactic acidosis	1/1	OMIM:614462
11019	LIAS	HP:0034392	Joint contracture	1/1	OMIM:614462
11019	LIAS	HP:0000252	Microcephaly	1/1	OMIM:614462
11019	LIAS	HP:0001510	Growth delay	1/1	OMIM:614462
11019	LIAS	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1/1	OMIM:614462
11019	LIAS	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:614462
11020	IFT27	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
11020	IFT27	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
11020	IFT27	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
11020	IFT27	HP:0001250	Seizure	HP:0040283	ORPHA:110
11020	IFT27	HP:0001251	Ataxia	HP:0040283	ORPHA:110
11020	IFT27	HP:0001249	Intellectual disability	-	OMIM:615996
11020	IFT27	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
11020	IFT27	HP:0001263	Global developmental delay	1/1	OMIM:615996
11020	IFT27	HP:0001257	Spasticity	HP:0040283	ORPHA:110
11020	IFT27	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
11020	IFT27	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
11020	IFT27	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
11020	IFT27	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
11020	IFT27	HP:0006042	Y-shaped metacarpals	1/1	OMIM:615996
11020	IFT27	HP:0000089	Renal hypoplasia	2/23	OMIM:615996
11020	IFT27	HP:0000083	Renal insufficiency	6/23	OMIM:615996
11020	IFT27	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
11020	IFT27	HP:0001397	Hepatic steatosis	5/20	OMIM:615996
11020	IFT27	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
11020	IFT27	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
11020	IFT27	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
11020	IFT27	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
11020	IFT27	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
11020	IFT27	HP:0006159	Mesoaxial hand polydactyly	1/1	OMIM:615996
11020	IFT27	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
11020	IFT27	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
11020	IFT27	HP:0000007	Autosomal recessive inheritance	-	OMIM:615996
11020	IFT27	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
11020	IFT27	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
11020	IFT27	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
11020	IFT27	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
11020	IFT27	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
11020	IFT27	HP:0000135	Hypogonadism	9/23	OMIM:615996
11020	IFT27	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
11020	IFT27	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
11020	IFT27	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
11020	IFT27	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
11020	IFT27	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
11020	IFT27	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
11020	IFT27	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
11020	IFT27	HP:0000126	Hydronephrosis	2/23	OMIM:615996
11020	IFT27	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
11020	IFT27	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
11020	IFT27	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
11020	IFT27	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
11020	IFT27	HP:0002099	Asthma	HP:0040283	ORPHA:110
11020	IFT27	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:615996
11020	IFT27	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
11020	IFT27	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
11020	IFT27	HP:0003577	Congenital onset	24/24	OMIM:615996
11020	IFT27	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
11020	IFT27	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
11020	IFT27	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
11020	IFT27	HP:0020049	Exodeviation	1/1	OMIM:615996
11020	IFT27	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
11020	IFT27	HP:0003621	Juvenile onset	8/19	OMIM:180100
11020	IFT27	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
11020	IFT27	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
11020	IFT27	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
11020	IFT27	HP:0000618	Blindness	HP:0040282	ORPHA:110
11020	IFT27	HP:0000613	Photophobia	HP:0040282	ORPHA:110
11020	IFT27	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
11020	IFT27	HP:0000691	Microdontia	HP:0040283	ORPHA:110
11020	IFT27	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
11020	IFT27	HP:0000662	Nyctalopia	26/28	OMIM:180100
11020	IFT27	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
11020	IFT27	HP:0004322	Short stature	HP:0040282	ORPHA:110
11020	IFT27	HP:0004383	Hypoplastic left heart	1/19	OMIM:615996
11020	IFT27	HP:0031936	Delayed ability to walk	1/1	OMIM:615996
11020	IFT27	HP:0000739	Anxiety	HP:0040283	ORPHA:110
11020	IFT27	HP:0000736	Short attention span	HP:0040282	ORPHA:110
11020	IFT27	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
11020	IFT27	HP:0000750	Delayed speech and language development	1/1	OMIM:615996
11020	IFT27	HP:0000716	Depression	HP:0040282	ORPHA:110
11020	IFT27	HP:0000717	Autism	HP:0040282	ORPHA:110
11020	IFT27	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
11020	IFT27	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
11020	IFT27	HP:0011463	Childhood onset	3/19	OMIM:180100
11020	IFT27	HP:0011462	Young adult onset	8/19	OMIM:180100
11020	IFT27	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
11020	IFT27	HP:0000789	Infertility	HP:0040283	ORPHA:110
11020	IFT27	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
11020	IFT27	HP:0004409	Hyposmia	-	OMIM:615996
11020	IFT27	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
11020	IFT27	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
11020	IFT27	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
11020	IFT27	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
11020	IFT27	HP:0000822	Hypertension	HP:0040282	ORPHA:110
11020	IFT27	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
11020	IFT27	HP:0011577	Partial atrioventricular canal defect	1/1	OMIM:615996
11020	IFT27	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
11020	IFT27	HP:0003241	External genital hypoplasia	-	OMIM:615996
11020	IFT27	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
11020	IFT27	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
11020	IFT27	HP:0100259	Postaxial polydactyly	19/23	OMIM:615996
11020	IFT27	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
11020	IFT27	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
11020	IFT27	HP:0000218	High palate	HP:0040282	ORPHA:110
11020	IFT27	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
11020	IFT27	HP:0001513	Obesity	HP:0040281	ORPHA:110
11020	IFT27	HP:0001513	Obesity	24/24	OMIM:615996
11020	IFT27	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
11020	IFT27	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
11020	IFT27	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
11020	IFT27	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
11020	IFT27	HP:0000388	Otitis media	HP:0040283	ORPHA:110
11020	IFT27	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
11020	IFT27	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
11020	IFT27	HP:0000365	Hearing impairment	3/23	OMIM:615996
11020	IFT27	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
11020	IFT27	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
11020	IFT27	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
11020	IFT27	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
11020	IFT27	HP:0001643	Patent ductus arteriosus	1/19	OMIM:615996
11020	IFT27	HP:0001629	Ventricular septal defect	1/19	OMIM:615996
11020	IFT27	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
11020	IFT27	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
11020	IFT27	HP:0001631	Atrial septal defect	1/19	OMIM:615996
11020	IFT27	HP:0000400	Macrotia	HP:0040283	ORPHA:110
11020	IFT27	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
11020	IFT27	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
11020	IFT27	HP:0000486	Strabismus	HP:0040283	ORPHA:110
11020	IFT27	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
11020	IFT27	HP:0000470	Short neck	HP:0040283	ORPHA:110
11020	IFT27	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
11020	IFT27	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
11020	IFT27	HP:0000518	Cataract	HP:0040283	ORPHA:110
11020	IFT27	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
11020	IFT27	HP:0000510	Rod-cone dystrophy	23/23	OMIM:615996
11020	IFT27	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
11020	IFT27	HP:0001830	Postaxial foot polydactyly	1/1	OMIM:615996
11020	IFT27	HP:0000575	Scotoma	5/18	OMIM:180100
11020	IFT27	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
11020	IFT27	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
11020	IFT27	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
11020	IFT27	HP:0000548	Cone/cone-rod dystrophy	1/1	OMIM:615996
11020	IFT27	HP:0000543	Optic disc pallor	1/1	OMIM:180100
11020	IFT27	HP:0000545	Myopia	-	OMIM:180100
11020	IFT27	HP:0000545	Myopia	1/1	OMIM:615996
11023	VAX1	HP:0001274	Agenesis of corpus callosum	1/1	OMIM:614402
11023	VAX1	HP:0001263	Global developmental delay	1/1	OMIM:614402
11023	VAX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614402
11023	VAX1	HP:0000175	Cleft palate	1/1	OMIM:614402
11023	VAX1	HP:0003577	Congenital onset	1/1	OMIM:614402
11023	VAX1	HP:0012687	Agenesis of pineal gland	1/1	OMIM:614402
11023	VAX1	HP:0034396	Hippocampal malrotation	1/1	OMIM:614402
11023	VAX1	HP:0000204	Cleft upper lip	1/1	OMIM:614402
11023	VAX1	HP:0000568	Microphthalmia	1/1	OMIM:614402
11041	B4GAT1	HP:0007260	Type II lissencephaly	3/4	OMIM:615287
11041	B4GAT1	HP:0001274	Agenesis of corpus callosum	1/4	OMIM:615287
11041	B4GAT1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:899
11041	B4GAT1	HP:0001284	Areflexia	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0001250	Seizure	1/1	OMIM:615287
11041	B4GAT1	HP:0001250	Seizure	HP:0040283	ORPHA:899
11041	B4GAT1	HP:0001252	Hypotonia	1/4	OMIM:615287
11041	B4GAT1	HP:0001252	Hypotonia	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0001263	Global developmental delay	-	OMIM:615287
11041	B4GAT1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0001257	Spasticity	-	OMIM:615287
11041	B4GAT1	HP:0008734	Decreased testicular size	1/4	OMIM:615287
11041	B4GAT1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:899
11041	B4GAT1	HP:0002539	Cortical dysplasia	-	OMIM:615287
11041	B4GAT1	HP:0002536	Abnormal cortical gyration	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0002500	Abnormal cerebral white matter morphology	1/4	OMIM:615287
11041	B4GAT1	HP:0000054	Micropenis	-	OMIM:615287
11041	B4GAT1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:899
11041	B4GAT1	HP:0001331	Absent septum pellucidum	1/4	OMIM:615287
11041	B4GAT1	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:899
11041	B4GAT1	HP:0001328	Specific learning disability	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0001339	Lissencephaly	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615287
11041	B4GAT1	HP:0001334	Communicating hydrocephalus	3/4	OMIM:615287
11041	B4GAT1	HP:0000003	Multicystic kidney dysplasia	1/4	OMIM:615287
11041	B4GAT1	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:899
11041	B4GAT1	HP:0001305	Dandy-Walker malformation	-	OMIM:615287
11041	B4GAT1	HP:0001302	Pachygyria	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0001321	Cerebellar hypoplasia	4/4	OMIM:615287
11041	B4GAT1	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:899
11041	B4GAT1	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:899
11041	B4GAT1	HP:0000175	Cleft palate	HP:0040283	ORPHA:899
11041	B4GAT1	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0000126	Hydronephrosis	-	OMIM:615287
11041	B4GAT1	HP:0002085	Occipital encephalocele	-	OMIM:615287
11041	B4GAT1	HP:0100565	Hydromyelia	1/4	OMIM:615287
11041	B4GAT1	HP:0002119	Ventriculomegaly	4/4	OMIM:615287
11041	B4GAT1	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0010508	Metatarsus valgus	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0003560	Muscular dystrophy	-	OMIM:615287
11041	B4GAT1	HP:0002282	Gray matter heterotopia	4/4	OMIM:615287
11041	B4GAT1	HP:0002365	Hypoplasia of the brainstem	1/4	OMIM:615287
11041	B4GAT1	HP:0002335	Agenesis of cerebellar vermis	1/4	OMIM:615287
11041	B4GAT1	HP:0002323	Anencephaly	-	OMIM:615287
11041	B4GAT1	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0001093	Optic nerve dysplasia	-	OMIM:615287
11041	B4GAT1	HP:0006829	Severe muscular hypotonia	-	OMIM:615287
11041	B4GAT1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0000618	Blindness	-	OMIM:615287
11041	B4GAT1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:899
11041	B4GAT1	HP:0034198	Second trimester onset	4/4	OMIM:615287
11041	B4GAT1	HP:0100307	Cerebellar hemisphere hypoplasia	1/4	OMIM:615287
11041	B4GAT1	HP:0000878	11 pairs of ribs	1/4	OMIM:615287
11041	B4GAT1	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:615287
11041	B4GAT1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:899
11041	B4GAT1	HP:0007759	Opacification of the corneal stroma	-	OMIM:615287
11041	B4GAT1	HP:0007731	Chorioretinal dysplasia	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0000238	Hydrocephalus	-	OMIM:615287
11041	B4GAT1	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0000252	Microcephaly	HP:0040283	ORPHA:899
11041	B4GAT1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:899
11041	B4GAT1	HP:0000369	Low-set ears	HP:0040283	ORPHA:899
11041	B4GAT1	HP:0007957	Corneal opacity	HP:0040282	ORPHA:899
11041	B4GAT1	HP:0007973	Retinal dysplasia	2/4	OMIM:615287
11041	B4GAT1	HP:0007973	Retinal dysplasia	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0000482	Microcornea	HP:0040283	ORPHA:899
11041	B4GAT1	HP:0012400	Abnormal circulating aldolase concentration	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0000411	Protruding ear	HP:0040283	ORPHA:899
11041	B4GAT1	HP:0000518	Cataract	HP:0040283	ORPHA:899
11041	B4GAT1	HP:0000528	Anophthalmia	HP:0040282	ORPHA:899
11041	B4GAT1	HP:0000501	Glaucoma	HP:0040282	ORPHA:899
11041	B4GAT1	HP:0000587	Abnormal optic nerve morphology	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:899
11041	B4GAT1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:899
11041	B4GAT1	HP:0000541	Retinal detachment	HP:0040281	ORPHA:899
11043	MID2	HP:0002465	Poor speech	4/6	OMIM:300928
11043	MID2	HP:0001250	Seizure	3/6	OMIM:300928
11043	MID2	HP:0001249	Intellectual disability	6/6	OMIM:300928
11043	MID2	HP:0001263	Global developmental delay	6/6	OMIM:300928
11043	MID2	HP:0007687	Unilateral ptosis	1/6	OMIM:300928
11043	MID2	HP:0001419	X-linked recessive inheritance	-	OMIM:300928
11043	MID2	HP:0003593	Infantile onset	-	OMIM:300928
11043	MID2	HP:0000648	Optic atrophy	1/6	OMIM:300928
11043	MID2	HP:0000752	Hyperactivity	6/6	OMIM:300928
11043	MID2	HP:0000276	Long face	4/6	OMIM:300928
11043	MID2	HP:0030084	Clinodactyly	1/6	OMIM:300928
11043	MID2	HP:0000322	Short philtrum	1/6	OMIM:300928
11043	MID2	HP:0000400	Macrotia	2/6	OMIM:300928
11043	MID2	HP:0000486	Strabismus	4/6	OMIM:300928
11055	ZPBP	HP:0000007	Autosomal recessive inheritance	-	OMIM:619799
11055	ZPBP	HP:0011462	Young adult onset	1/1	OMIM:619799
11055	ZPBP	HP:0003251	Male infertility	1/1	OMIM:619799
11055	ZPBP	HP:0012205	Globozoospermia	1/1	OMIM:619799
11077	HSF2BP	HP:0000007	Autosomal recessive inheritance	-	OMIM:619245
11077	HSF2BP	HP:0008222	Female infertility	3/3	OMIM:619245
11077	HSF2BP	HP:0008209	Premature ovarian insufficiency	3/3	OMIM:619245
11077	HSF2BP	HP:0000858	Irregular menstruation	3/3	OMIM:619245
11077	HSF2BP	HP:0000869	Secondary amenorrhea	3/3	OMIM:619245
11078	TRIOBP	HP:0008625	Severe sensorineural hearing impairment	-	OMIM:609823
11078	TRIOBP	HP:0000007	Autosomal recessive inheritance	-	OMIM:609823
11078	TRIOBP	HP:0003593	Infantile onset	-	OMIM:609823
11080	DNAJB4	HP:0001270	Motor delay	0/4	OMIM:620326
11080	DNAJB4	HP:0001249	Intellectual disability	1/5	OMIM:620326
11080	DNAJB4	HP:0000023	Inguinal hernia	1/1	OMIM:620326
11080	DNAJB4	HP:0033725	Thin corpus callosum	1/1	OMIM:620326
11080	DNAJB4	HP:0000007	Autosomal recessive inheritance	-	OMIM:620326
11080	DNAJB4	HP:0003306	Spinal rigidity	3/4	OMIM:620326
11080	DNAJB4	HP:0002094	Dyspnea	4/4	OMIM:620326
11080	DNAJB4	HP:0003458	EMG: myopathic abnormalities	3/3	OMIM:620326
11080	DNAJB4	HP:0003596	Middle age onset	1/4	OMIM:620326
11080	DNAJB4	HP:0033364	Lipoid pneumonia	1/1	OMIM:620326
11080	DNAJB4	HP:0011463	Childhood onset	2/4	OMIM:620326
11080	DNAJB4	HP:0011462	Young adult onset	1/4	OMIM:620326
11080	DNAJB4	HP:0009113	Diaphragmatic weakness	4/4	OMIM:620326
11080	DNAJB4	HP:0003236	Elevated circulating creatine kinase concentration	3/4	OMIM:620326
11080	DNAJB4	HP:0002878	Respiratory failure	2/4	OMIM:620326
11080	DNAJB4	HP:0002877	Nocturnal hypoventilation	1/4	OMIM:620326
11080	DNAJB4	HP:0001511	Intrauterine growth retardation	1/1	OMIM:620326
11080	DNAJB4	HP:0001639	Hypertrophic cardiomyopathy	1/4	OMIM:620326
11080	DNAJB4	HP:0012444	Brain atrophy	1/1	OMIM:620326
11081	KERA	HP:0000007	Autosomal recessive inheritance	-	OMIM:217300
11081	KERA	HP:0007663	Reduced visual acuity	4/4	OMIM:217300
11081	KERA	HP:0001084	Corneal arcus	-	OMIM:217300
11081	KERA	HP:0100689	Decreased corneal thickness	-	OMIM:217300
11081	KERA	HP:0000647	Sclerocornea	4/4	OMIM:217300
11081	KERA	HP:0011463	Childhood onset	4/4	OMIM:217300
11081	KERA	HP:0007720	Flat cornea	4/4	OMIM:217300
11081	KERA	HP:0007957	Corneal opacity	4/4	OMIM:217300
11081	KERA	HP:0000568	Microphthalmia	4/4	OMIM:217300
11081	KERA	HP:0000540	Hypermetropia	-	OMIM:217300
11093	ADAMTS13	HP:0001297	Stroke	25/120	OMIM:274150
11093	ADAMTS13	HP:0001289	Confusion	-	OMIM:274150
11093	ADAMTS13	HP:0000093	Proteinuria	-	OMIM:274150
11093	ADAMTS13	HP:0000007	Autosomal recessive inheritance	-	OMIM:274150
11093	ADAMTS13	HP:0001337	Tremor	-	OMIM:274150
11093	ADAMTS13	HP:0002098	Respiratory distress	HP:0040283	OMIM:274150
11093	ADAMTS13	HP:0002151	Increased circulating lactate concentration	-	OMIM:274150
11093	ADAMTS13	HP:0002326	Transient ischemic attack	12/120	OMIM:274150
11093	ADAMTS13	HP:0005575	Hemolytic-uremic syndrome	-	OMIM:274150
11093	ADAMTS13	HP:0001981	Schistocytosis	-	OMIM:274150
11093	ADAMTS13	HP:0001945	Fever	-	OMIM:274150
11093	ADAMTS13	HP:0001923	Reticulocytosis	-	OMIM:274150
11093	ADAMTS13	HP:0001937	Microangiopathic hemolytic anemia	-	OMIM:274150
11093	ADAMTS13	HP:0003138	Increased blood urea nitrogen	-	OMIM:274150
11093	ADAMTS13	HP:0003259	Elevated circulating creatinine concentration	-	OMIM:274150
11093	ADAMTS13	HP:0000952	Jaundice	59/120	OMIM:274150
11093	ADAMTS13	HP:0012211	Abnormal renal physiology	-	OMIM:274150
11093	ADAMTS13	HP:0006579	Prolonged neonatal jaundice	-	OMIM:274150
11093	ADAMTS13	HP:0002907	Microscopic hematuria	-	OMIM:274150
11093	ADAMTS13	HP:0001658	Myocardial infarction	5/120	OMIM:274150
11093	ADAMTS13	HP:0001873	Thrombocytopenia	-	OMIM:274150
11107	PRDM5	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:90354
11107	PRDM5	HP:0001131	Corneal dystrophy	HP:0040281	ORPHA:90354
11107	PRDM5	HP:0001119	Keratoglobus	4/8	OMIM:614170
11107	PRDM5	HP:0001119	Keratoglobus	HP:0040281	ORPHA:90354
11107	PRDM5	HP:0009887	Abnormality of hair pigmentation	HP:0040282	ORPHA:90354
11107	PRDM5	HP:0001288	Gait disturbance	2/8	OMIM:614170
11107	PRDM5	HP:0001288	Gait disturbance	HP:0040282	ORPHA:90354
11107	PRDM5	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:90354
11107	PRDM5	HP:0001382	Joint hypermobility	8/8	OMIM:614170
11107	PRDM5	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:90354
11107	PRDM5	HP:0000023	Inguinal hernia	1/8	OMIM:614170
11107	PRDM5	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:90354
11107	PRDM5	HP:0000007	Autosomal recessive inheritance	-	OMIM:614170
11107	PRDM5	HP:0002650	Scoliosis	HP:0040283	ORPHA:90354
11107	PRDM5	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:90354
11107	PRDM5	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:90354
11107	PRDM5	HP:0000175	Cleft palate	HP:0040283	ORPHA:90354
11107	PRDM5	HP:0002757	Recurrent fractures	2/8	OMIM:614170
11107	PRDM5	HP:0003326	Myalgia	3/8	OMIM:614170
11107	PRDM5	HP:0003326	Myalgia	HP:0040282	ORPHA:90354
11107	PRDM5	HP:0100583	Corneal perforation	4/8	OMIM:614170
11107	PRDM5	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:90354
11107	PRDM5	HP:0100790	Hernia	HP:0040283	ORPHA:90354
11107	PRDM5	HP:0200020	Corneal erosion	HP:0040283	ORPHA:90354
11107	PRDM5	HP:0100689	Decreased corneal thickness	2/2	OMIM:614170
11107	PRDM5	HP:0100689	Decreased corneal thickness	HP:0040281	ORPHA:90354
11107	PRDM5	HP:0000647	Sclerocornea	2/8	OMIM:614170
11107	PRDM5	HP:0000978	Bruising susceptibility	4/8	OMIM:614170
11107	PRDM5	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:90354
11107	PRDM5	HP:0000977	Soft skin	HP:0040281	ORPHA:90354
11107	PRDM5	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:90354
11107	PRDM5	HP:0000939	Osteoporosis	HP:0040282	ORPHA:90354
11107	PRDM5	HP:0007720	Flat cornea	HP:0040283	OMIM:614170
11107	PRDM5	HP:0001537	Umbilical hernia	1/8	OMIM:614170
11107	PRDM5	HP:0012385	Camptodactyly	HP:0040283	ORPHA:90354
11107	PRDM5	HP:0000365	Hearing impairment	8/8	OMIM:614170
11107	PRDM5	HP:0011003	High myopia	HP:0040281	ORPHA:90354
11107	PRDM5	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:90354
11107	PRDM5	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:90354
11107	PRDM5	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:90354
11107	PRDM5	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:90354
11107	PRDM5	HP:0000485	Megalocornea	0/8	OMIM:614170
11107	PRDM5	HP:0001763	Pes planus	HP:0040283	ORPHA:90354
11107	PRDM5	HP:0001822	Hallux valgus	HP:0040283	ORPHA:90354
11107	PRDM5	HP:0000501	Glaucoma	HP:0040283	ORPHA:90354
11107	PRDM5	HP:0000592	Blue sclerae	8/8	OMIM:614170
11107	PRDM5	HP:0000592	Blue sclerae	HP:0040282	ORPHA:90354
11107	PRDM5	HP:0000563	Keratoconus	5/8	OMIM:614170
11107	PRDM5	HP:0000559	Corneal scarring	HP:0040282	ORPHA:90354
11107	PRDM5	HP:0000572	Visual loss	HP:0040282	ORPHA:90354
11107	PRDM5	HP:0000541	Retinal detachment	HP:0040283	ORPHA:90354
11107	PRDM5	HP:0000545	Myopia	7/8	OMIM:614170
11113	CIT	HP:0010862	Delayed fine motor development	7/7	OMIM:617090
11113	CIT	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
11113	CIT	HP:0009879	Simplified gyral pattern	5/5	OMIM:617090
11113	CIT	HP:0001276	Hypertonia	5/7	OMIM:617090
11113	CIT	HP:0001274	Agenesis of corpus callosum	-	OMIM:617090
11113	CIT	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
11113	CIT	HP:0001250	Seizure	0/7	OMIM:617090
11113	CIT	HP:0001249	Intellectual disability	7/7	OMIM:617090
11113	CIT	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
11113	CIT	HP:0001263	Global developmental delay	7/7	OMIM:617090
11113	CIT	HP:0001257	Spasticity	1/7	OMIM:617090
11113	CIT	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
11113	CIT	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
11113	CIT	HP:0001347	Hyperreflexia	5/7	OMIM:617090
11113	CIT	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
11113	CIT	HP:0000007	Autosomal recessive inheritance	-	OMIM:617090
11113	CIT	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
11113	CIT	HP:0001321	Cerebellar hypoplasia	0/5	OMIM:617090
11113	CIT	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
11113	CIT	HP:0000104	Renal agenesis	-	OMIM:617090
11113	CIT	HP:0002079	Hypoplasia of the corpus callosum	4/5	OMIM:617090
11113	CIT	HP:0002119	Ventriculomegaly	-	OMIM:617090
11113	CIT	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
11113	CIT	HP:0002194	Delayed gross motor development	7/7	OMIM:617090
11113	CIT	HP:0003577	Congenital onset	7/7	OMIM:617090
11113	CIT	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
11113	CIT	HP:0002365	Hypoplasia of the brainstem	0/5	OMIM:617090
11113	CIT	HP:0004322	Short stature	HP:0040281	ORPHA:2512
11113	CIT	HP:0004322	Short stature	-	OMIM:617090
11113	CIT	HP:0000750	Delayed speech and language development	7/7	OMIM:617090
11113	CIT	HP:0011451	Primary microcephaly	7/7	OMIM:617090
11113	CIT	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
11113	CIT	HP:0045028	Microlissencephaly	-	OMIM:617090
11113	CIT	HP:0000294	Low anterior hairline	1/7	OMIM:617090
11113	CIT	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
11113	CIT	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
11113	CIT	HP:0001508	Failure to thrive	-	OMIM:617090
11113	CIT	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
11113	CIT	HP:0000340	Sloping forehead	5/7	OMIM:617090
11113	CIT	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
11113	CIT	HP:0000316	Hypertelorism	-	OMIM:617090
11113	CIT	HP:0000400	Macrotia	7/7	OMIM:617090
11113	CIT	HP:0012471	Thick vermilion border	7/7	OMIM:617090
11113	CIT	HP:0012434	Delayed early-childhood social milestone development	7/7	OMIM:617090
11113	CIT	HP:0000414	Bulbous nose	-	OMIM:617090
11113	CIT	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
11117	EMILIN1	HP:0009901	Crumpled ear	90/119	OMIM:121050
11117	EMILIN1	HP:0001181	Adducted thumb	42/90	OMIM:121050
11117	EMILIN1	HP:0001166	Arachnodactyly	104/124	OMIM:121050
11117	EMILIN1	HP:0001166	Arachnodactyly	124/197	OMIM:154700
11117	EMILIN1	HP:0001166	Arachnodactyly	34/37	OMIM:182212
11117	EMILIN1	HP:0001166	Arachnodactyly	6/15	OMIM:208050
11117	EMILIN1	HP:0003745	Sporadic	-	OMIM:182212
11117	EMILIN1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
11117	EMILIN1	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
11117	EMILIN1	HP:0001290	Generalized hypotonia	-	OMIM:208050
11117	EMILIN1	HP:0001290	Generalized hypotonia	-	OMIM:182212
11117	EMILIN1	HP:0001270	Motor delay	-	OMIM:121050
11117	EMILIN1	HP:0001256	Intellectual disability, mild	-	OMIM:259770
11117	EMILIN1	HP:0001252	Hypotonia	-	OMIM:259770
11117	EMILIN1	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
11117	EMILIN1	HP:0001252	Hypotonia	26/37	OMIM:182212
11117	EMILIN1	HP:0001249	Intellectual disability	2/4	OMIM:620080
11117	EMILIN1	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
11117	EMILIN1	HP:0001249	Intellectual disability	-	OMIM:182212
11117	EMILIN1	HP:0001263	Global developmental delay	1/1	OMIM:612394
11117	EMILIN1	HP:0001263	Global developmental delay	-	OMIM:182212
11117	EMILIN1	HP:0001245	Small thenar eminence	2/4	OMIM:620080
11117	EMILIN1	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
11117	EMILIN1	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
11117	EMILIN1	HP:0033685	Fiber type grouping	1/1	OMIM:620080
11117	EMILIN1	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
11117	EMILIN1	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
11117	EMILIN1	HP:0000098	Tall stature	-	OMIM:154700
11117	EMILIN1	HP:0001377	Limited elbow extension	94/109	OMIM:121050
11117	EMILIN1	HP:0001377	Limited elbow extension	29/199	OMIM:154700
11117	EMILIN1	HP:0001371	Flexion contracture	-	OMIM:208050
11117	EMILIN1	HP:0001371	Flexion contracture	-	OMIM:154700
11117	EMILIN1	HP:0001382	Joint hypermobility	-	OMIM:259770
11117	EMILIN1	HP:0001382	Joint hypermobility	1/1	OMIM:130050
11117	EMILIN1	HP:0001382	Joint hypermobility	1/3	OMIM:620080
11117	EMILIN1	HP:0001382	Joint hypermobility	12/14	OMIM:208050
11117	EMILIN1	HP:0001382	Joint hypermobility	11/53	OMIM:154700
11117	EMILIN1	HP:0001382	Joint hypermobility	31/47	OMIM:182212
11117	EMILIN1	HP:0000023	Inguinal hernia	11/11	OMIM:130050
11117	EMILIN1	HP:0000023	Inguinal hernia	8/15	OMIM:208050
11117	EMILIN1	HP:0000023	Inguinal hernia	19/34	OMIM:182212
11117	EMILIN1	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
11117	EMILIN1	HP:0001347	Hyperreflexia	2/4	OMIM:620080
11117	EMILIN1	HP:0001363	Craniosynostosis	18/37	OMIM:182212
11117	EMILIN1	HP:0000028	Cryptorchidism	1/1	OMIM:130050
11117	EMILIN1	HP:0000028	Cryptorchidism	1/13	OMIM:182212
11117	EMILIN1	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
11117	EMILIN1	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
11117	EMILIN1	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
11117	EMILIN1	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
11117	EMILIN1	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
11117	EMILIN1	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
11117	EMILIN1	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
11117	EMILIN1	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
11117	EMILIN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
11117	EMILIN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
11117	EMILIN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
11117	EMILIN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
11117	EMILIN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
11117	EMILIN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
11117	EMILIN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620080
11117	EMILIN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
11117	EMILIN1	HP:0002650	Scoliosis	1/5	OMIM:259770
11117	EMILIN1	HP:0002650	Scoliosis	16/53	OMIM:154700
11117	EMILIN1	HP:0002650	Scoliosis	1/1	OMIM:612394
11117	EMILIN1	HP:0002650	Scoliosis	11/15	OMIM:121050
11117	EMILIN1	HP:0002650	Scoliosis	3/15	OMIM:208050
11117	EMILIN1	HP:0002650	Scoliosis	23/37	OMIM:182212
11117	EMILIN1	HP:0002647	Aortic dissection	1/58	OMIM:154700
11117	EMILIN1	HP:0002619	Varicose veins	-	OMIM:130050
11117	EMILIN1	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
11117	EMILIN1	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
11117	EMILIN1	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
11117	EMILIN1	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
11117	EMILIN1	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
11117	EMILIN1	HP:0000189	Narrow palate	-	OMIM:182212
11117	EMILIN1	HP:0000189	Narrow palate	-	OMIM:154700
11117	EMILIN1	HP:0000193	Bifid uvula	0/14	OMIM:208050
11117	EMILIN1	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
11117	EMILIN1	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
11117	EMILIN1	HP:0012151	Hemothorax	3/4	OMIM:130050
11117	EMILIN1	HP:0000139	Uterine prolapse	-	OMIM:130050
11117	EMILIN1	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
11117	EMILIN1	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
11117	EMILIN1	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
11117	EMILIN1	HP:0002757	Recurrent fractures	4/5	OMIM:259770
11117	EMILIN1	HP:0002758	Osteoarthritis	1/3	OMIM:620080
11117	EMILIN1	HP:0002756	Pathologic fracture	-	OMIM:259770
11117	EMILIN1	HP:0002756	Pathologic fracture	1/1	OMIM:612394
11117	EMILIN1	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
11117	EMILIN1	HP:0002751	Kyphoscoliosis	-	OMIM:259770
11117	EMILIN1	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
11117	EMILIN1	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
11117	EMILIN1	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
11117	EMILIN1	HP:0002036	Hiatus hernia	-	OMIM:208050
11117	EMILIN1	HP:0002007	Frontal bossing	-	OMIM:121050
11117	EMILIN1	HP:0002007	Frontal bossing	-	OMIM:182212
11117	EMILIN1	HP:0003302	Spondylolisthesis	-	OMIM:154700
11117	EMILIN1	HP:0100550	Tendon rupture	1/3	OMIM:620080
11117	EMILIN1	HP:0002097	Emphysema	8/9	OMIM:130050
11117	EMILIN1	HP:0002097	Emphysema	HP:0040283	OMIM:154700
11117	EMILIN1	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
11117	EMILIN1	HP:0030961	Microspherophakia	2/53	OMIM:154700
11117	EMILIN1	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
11117	EMILIN1	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
11117	EMILIN1	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
11117	EMILIN1	HP:0010499	Patellar subluxation	12/22	OMIM:121050
11117	EMILIN1	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
11117	EMILIN1	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
11117	EMILIN1	HP:0002140	Ischemic stroke	-	OMIM:208050
11117	EMILIN1	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
11117	EMILIN1	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
11117	EMILIN1	HP:0002110	Bronchiectasis	1/3	OMIM:620080
11117	EMILIN1	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
11117	EMILIN1	HP:0002107	Pneumothorax	2/2	OMIM:130050
11117	EMILIN1	HP:0002107	Pneumothorax	6/53	OMIM:154700
11117	EMILIN1	HP:0002105	Hemoptysis	6/10	OMIM:130050
11117	EMILIN1	HP:0002169	Clonus	2/4	OMIM:620080
11117	EMILIN1	HP:0002164	Nail dysplasia	1/1	OMIM:612394
11117	EMILIN1	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
11117	EMILIN1	HP:0010557	Overlapping fingers	1/2	OMIM:612394
11117	EMILIN1	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
11117	EMILIN1	HP:0003593	Infantile onset	1/5	OMIM:259770
11117	EMILIN1	HP:0003593	Infantile onset	5/16	OMIM:208050
11117	EMILIN1	HP:0003577	Congenital onset	4/5	OMIM:259770
11117	EMILIN1	HP:0003577	Congenital onset	5/5	OMIM:121050
11117	EMILIN1	HP:0003577	Congenital onset	12/26	OMIM:208050
11117	EMILIN1	HP:0100718	Uterine rupture	-	OMIM:130050
11117	EMILIN1	HP:0004872	Incisional hernia	-	OMIM:154700
11117	EMILIN1	HP:0002208	Coarse hair	1/1	OMIM:612394
11117	EMILIN1	HP:0100775	Dural ectasia	112/140	OMIM:154700
11117	EMILIN1	HP:0100749	Chest pain	1/2	OMIM:130050
11117	EMILIN1	HP:0002293	Alopecia of scalp	-	OMIM:130050
11117	EMILIN1	HP:0034671	Knee contracture	7/14	OMIM:121050
11117	EMILIN1	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
11117	EMILIN1	HP:0010648	Dermal translucency	3/3	OMIM:130050
11117	EMILIN1	HP:0033383	Decreased compound muscle action potential amplitude	4/4	OMIM:620080
11117	EMILIN1	HP:0007099	Chiari type I malformation	-	OMIM:182212
11117	EMILIN1	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
11117	EMILIN1	HP:0025019	Arterial rupture	-	OMIM:130050
11117	EMILIN1	HP:0025019	Arterial rupture	1/1	OMIM:612394
11117	EMILIN1	HP:0001065	Striae distensae	11/53	OMIM:154700
11117	EMILIN1	HP:0001030	Fragile skin	-	OMIM:130050
11117	EMILIN1	HP:0003691	Scapular winging	1/3	OMIM:620080
11117	EMILIN1	HP:0001027	Soft, doughy skin	-	OMIM:208050
11117	EMILIN1	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
11117	EMILIN1	HP:0100645	Cystocele	-	OMIM:130050
11117	EMILIN1	HP:0009830	Peripheral neuropathy	1/3	OMIM:620080
11117	EMILIN1	HP:0001073	Cigarette-paper scars	-	OMIM:130050
11117	EMILIN1	HP:0001089	Iris atrophy	-	OMIM:259770
11117	EMILIN1	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
11117	EMILIN1	HP:0001083	Ectopia lentis	119/251	OMIM:154700
11117	EMILIN1	HP:0007141	Sensorimotor neuropathy	1/3	OMIM:620080
11117	EMILIN1	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
11117	EMILIN1	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
11117	EMILIN1	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
11117	EMILIN1	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
11117	EMILIN1	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
11117	EMILIN1	HP:0003623	Neonatal onset	3/16	OMIM:208050
11117	EMILIN1	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
11117	EMILIN1	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
11117	EMILIN1	HP:0004933	Ascending aortic dissection	1/3	OMIM:620080
11117	EMILIN1	HP:0003621	Juvenile onset	2/16	OMIM:208050
11117	EMILIN1	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
11117	EMILIN1	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
11117	EMILIN1	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
11117	EMILIN1	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
11117	EMILIN1	HP:0001977	Abnormal thrombosis	-	OMIM:208050
11117	EMILIN1	HP:0000618	Blindness	5/5	OMIM:259770
11117	EMILIN1	HP:0001903	Anemia	1/1	OMIM:130050
11117	EMILIN1	HP:0009053	Distal lower limb muscle weakness	4/4	OMIM:620080
11117	EMILIN1	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
11117	EMILIN1	HP:0000678	Dental crowding	8/53	OMIM:154700
11117	EMILIN1	HP:0000689	Dental malocclusion	-	OMIM:182212
11117	EMILIN1	HP:0000667	Phthisis bulbi	-	OMIM:259770
11117	EMILIN1	HP:0004322	Short stature	-	OMIM:130050
11117	EMILIN1	HP:0004322	Short stature	-	OMIM:259770
11117	EMILIN1	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
11117	EMILIN1	HP:0003088	Premature osteoarthritis	-	OMIM:154700
11117	EMILIN1	HP:0003083	Dislocated radial head	5/37	OMIM:182212
11117	EMILIN1	HP:0003066	Limited knee extension	38/45	OMIM:121050
11117	EMILIN1	HP:0003042	Elbow dislocation	1/12	OMIM:121050
11117	EMILIN1	HP:0003016	Metaphyseal widening	-	OMIM:259770
11117	EMILIN1	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
11117	EMILIN1	HP:0005684	Distal arthrogryposis	-	OMIM:121050
11117	EMILIN1	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
11117	EMILIN1	HP:0000767	Pectus excavatum	2/14	OMIM:121050
11117	EMILIN1	HP:0000767	Pectus excavatum	1/4	OMIM:130050
11117	EMILIN1	HP:0000767	Pectus excavatum	3/15	OMIM:208050
11117	EMILIN1	HP:0000767	Pectus excavatum	44/146	OMIM:154700
11117	EMILIN1	HP:0000767	Pectus excavatum	-	OMIM:182212
11117	EMILIN1	HP:0000768	Pectus carinatum	4/14	OMIM:121050
11117	EMILIN1	HP:0000768	Pectus carinatum	2/15	OMIM:208050
11117	EMILIN1	HP:0000768	Pectus carinatum	58/146	OMIM:154700
11117	EMILIN1	HP:0000768	Pectus carinatum	-	OMIM:182212
11117	EMILIN1	HP:0000704	Periodontitis	-	OMIM:130050
11117	EMILIN1	HP:0011463	Childhood onset	4/4	OMIM:620080
11117	EMILIN1	HP:0011463	Childhood onset	1/16	OMIM:208050
11117	EMILIN1	HP:0011462	Young adult onset	3/16	OMIM:208050
11117	EMILIN1	HP:0011461	Fetal onset	2/2	OMIM:612394
11117	EMILIN1	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
11117	EMILIN1	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
11117	EMILIN1	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
11117	EMILIN1	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
11117	EMILIN1	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
11117	EMILIN1	HP:0030799	Scaphocephaly	-	OMIM:121050
11117	EMILIN1	HP:0003199	Decreased muscle mass	-	OMIM:154700
11117	EMILIN1	HP:0003196	Short nose	1/1	OMIM:612394
11117	EMILIN1	HP:0000926	Platyspondyly	-	OMIM:259770
11117	EMILIN1	HP:0000926	Platyspondyly	1/1	OMIM:612394
11117	EMILIN1	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
11117	EMILIN1	HP:0000883	Thin ribs	-	OMIM:182212
11117	EMILIN1	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
11117	EMILIN1	HP:0000822	Hypertension	-	OMIM:208050
11117	EMILIN1	HP:0000895	Lateral clavicle hook	-	OMIM:182212
11117	EMILIN1	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
11117	EMILIN1	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
11117	EMILIN1	HP:0034391	Elbow contracture	10/14	OMIM:121050
11117	EMILIN1	HP:0003273	Hip contracture	32/121	OMIM:121050
11117	EMILIN1	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
11117	EMILIN1	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
11117	EMILIN1	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
11117	EMILIN1	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
11117	EMILIN1	HP:0000978	Bruising susceptibility	1/3	OMIM:620080
11117	EMILIN1	HP:0000978	Bruising susceptibility	-	OMIM:208050
11117	EMILIN1	HP:0000977	Soft skin	7/15	OMIM:208050
11117	EMILIN1	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
11117	EMILIN1	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
11117	EMILIN1	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
11117	EMILIN1	HP:0000973	Cutis laxa	5/14	OMIM:208050
11117	EMILIN1	HP:0000963	Thin skin	4/13	OMIM:208050
11117	EMILIN1	HP:0000939	Osteoporosis	4/5	OMIM:259770
11117	EMILIN1	HP:0000938	Osteopenia	-	OMIM:121050
11117	EMILIN1	HP:0000938	Osteopenia	1/5	OMIM:259770
11117	EMILIN1	HP:0000938	Osteopenia	1/1	OMIM:612394
11117	EMILIN1	HP:0000938	Osteopenia	-	OMIM:182212
11117	EMILIN1	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
11117	EMILIN1	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
11117	EMILIN1	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
11117	EMILIN1	HP:0025586	Hypertropia	8/573	OMIM:154700
11117	EMILIN1	HP:0000278	Retrognathia	-	OMIM:154700
11117	EMILIN1	HP:0000260	Wide anterior fontanel	-	OMIM:182212
11117	EMILIN1	HP:0000275	Narrow face	-	OMIM:154700
11117	EMILIN1	HP:0000276	Long face	14/14	OMIM:208050
11117	EMILIN1	HP:0000276	Long face	-	OMIM:154700
11117	EMILIN1	HP:0000272	Malar flattening	9/14	OMIM:208050
11117	EMILIN1	HP:0000272	Malar flattening	31/53	OMIM:154700
11117	EMILIN1	HP:0000272	Malar flattening	1/1	OMIM:612394
11117	EMILIN1	HP:0000268	Dolichocephaly	-	OMIM:121050
11117	EMILIN1	HP:0000268	Dolichocephaly	36/53	OMIM:154700
11117	EMILIN1	HP:0000268	Dolichocephaly	28/37	OMIM:182212
11117	EMILIN1	HP:0005136	Mitral annular calcification	-	OMIM:154700
11117	EMILIN1	HP:0007773	Vitreoretinopathy	-	OMIM:259770
11117	EMILIN1	HP:0002816	Genu recurvatum	-	OMIM:182212
11117	EMILIN1	HP:0002816	Genu recurvatum	-	OMIM:154700
11117	EMILIN1	HP:0002808	Kyphosis	1/5	OMIM:259770
11117	EMILIN1	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
11117	EMILIN1	HP:0000244	Brachyturricephaly	-	OMIM:182212
11117	EMILIN1	HP:0000238	Hydrocephalus	13/37	OMIM:182212
11117	EMILIN1	HP:0000252	Microcephaly	-	OMIM:259770
11117	EMILIN1	HP:0000252	Microcephaly	6/37	OMIM:182212
11117	EMILIN1	HP:0000248	Brachycephaly	-	OMIM:121050
11117	EMILIN1	HP:0001552	Barrel-shaped chest	-	OMIM:259770
11117	EMILIN1	HP:0000218	High palate	34/53	OMIM:154700
11117	EMILIN1	HP:0000218	High palate	30/102	OMIM:121050
11117	EMILIN1	HP:0000218	High palate	5/13	OMIM:208050
11117	EMILIN1	HP:0000218	High palate	30/37	OMIM:182212
11117	EMILIN1	HP:0000233	Thin vermilion border	-	OMIM:130050
11117	EMILIN1	HP:0030009	Cervical insufficiency	-	OMIM:130050
11117	EMILIN1	HP:0002857	Genu valgum	4/37	OMIM:182212
11117	EMILIN1	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
11117	EMILIN1	HP:0001537	Umbilical hernia	-	OMIM:208050
11117	EMILIN1	HP:0001537	Umbilical hernia	13/37	OMIM:182212
11117	EMILIN1	HP:0031364	Ecchymosis	-	OMIM:130050
11117	EMILIN1	HP:0001519	Disproportionate tall stature	-	OMIM:121050
11117	EMILIN1	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
11117	EMILIN1	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
11117	EMILIN1	HP:0007800	Increased axial length of the globe	-	OMIM:154700
11117	EMILIN1	HP:0012385	Camptodactyly	86/110	OMIM:121050
11117	EMILIN1	HP:0012385	Camptodactyly	19/53	OMIM:154700
11117	EMILIN1	HP:0012385	Camptodactyly	24/37	OMIM:182212
11117	EMILIN1	HP:0000387	Absent earlobe	-	OMIM:130050
11117	EMILIN1	HP:0012368	Flat face	1/1	OMIM:612394
11117	EMILIN1	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
11117	EMILIN1	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
11117	EMILIN1	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
11117	EMILIN1	HP:0007875	Congenital blindness	4/5	OMIM:259770
11117	EMILIN1	HP:0007862	Retinal calcification	1/5	OMIM:259770
11117	EMILIN1	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
11117	EMILIN1	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
11117	EMILIN1	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
11117	EMILIN1	HP:0006480	Premature loss of teeth	-	OMIM:130050
11117	EMILIN1	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
11117	EMILIN1	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
11117	EMILIN1	HP:0000369	Low-set ears	2/2	OMIM:612394
11117	EMILIN1	HP:0000369	Low-set ears	32/37	OMIM:182212
11117	EMILIN1	HP:0000343	Long philtrum	-	OMIM:208050
11117	EMILIN1	HP:0002999	Patellar dislocation	2/20	OMIM:121050
11117	EMILIN1	HP:0000347	Micrognathia	-	OMIM:154700
11117	EMILIN1	HP:0000347	Micrognathia	26/94	OMIM:121050
11117	EMILIN1	HP:0000347	Micrognathia	5/14	OMIM:208050
11117	EMILIN1	HP:0000347	Micrognathia	33/37	OMIM:182212
11117	EMILIN1	HP:0002982	Tibial bowing	1/5	OMIM:259770
11117	EMILIN1	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
11117	EMILIN1	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
11117	EMILIN1	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
11117	EMILIN1	HP:0000316	Hypertelorism	6/16	OMIM:208050
11117	EMILIN1	HP:0000316	Hypertelorism	28/37	OMIM:182212
11117	EMILIN1	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
11117	EMILIN1	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
11117	EMILIN1	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
11117	EMILIN1	HP:0001659	Aortic regurgitation	-	OMIM:208050
11117	EMILIN1	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
11117	EMILIN1	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
11117	EMILIN1	HP:0001653	Mitral regurgitation	-	OMIM:121050
11117	EMILIN1	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
11117	EMILIN1	HP:0001629	Ventricular septal defect	-	OMIM:121050
11117	EMILIN1	HP:0001629	Ventricular septal defect	-	OMIM:259770
11117	EMILIN1	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
11117	EMILIN1	HP:0001635	Congestive heart failure	-	OMIM:154700
11117	EMILIN1	HP:0000307	Pointed chin	1/2	OMIM:612394
11117	EMILIN1	HP:0001631	Atrial septal defect	-	OMIM:121050
11117	EMILIN1	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
11117	EMILIN1	HP:0001634	Mitral valve prolapse	-	OMIM:130050
11117	EMILIN1	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
11117	EMILIN1	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
11117	EMILIN1	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
11117	EMILIN1	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
11117	EMILIN1	HP:0012499	Descending aortic dissection	1/3	OMIM:620080
11117	EMILIN1	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
11117	EMILIN1	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
11117	EMILIN1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
11117	EMILIN1	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
11117	EMILIN1	HP:0000400	Macrotia	7/15	OMIM:208050
11117	EMILIN1	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
11117	EMILIN1	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
11117	EMILIN1	HP:0000483	Astigmatism	3/53	OMIM:154700
11117	EMILIN1	HP:0000483	Astigmatism	5/15	OMIM:208050
11117	EMILIN1	HP:0000486	Strabismus	110/573	OMIM:154700
11117	EMILIN1	HP:0000486	Strabismus	17/37	OMIM:182212
11117	EMILIN1	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
11117	EMILIN1	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
11117	EMILIN1	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
11117	EMILIN1	HP:0000490	Deeply set eye	25/63	OMIM:154700
11117	EMILIN1	HP:0000463	Anteverted nares	1/1	OMIM:612394
11117	EMILIN1	HP:0000463	Anteverted nares	9/37	OMIM:182212
11117	EMILIN1	HP:0001786	Narrow foot	33/53	OMIM:154700
11117	EMILIN1	HP:0000470	Short neck	-	OMIM:121050
11117	EMILIN1	HP:0001763	Pes planus	3/7	OMIM:620080
11117	EMILIN1	HP:0001763	Pes planus	27/53	OMIM:154700
11117	EMILIN1	HP:0001763	Pes planus	-	OMIM:182212
11117	EMILIN1	HP:0001765	Hammertoe	-	OMIM:154700
11117	EMILIN1	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
11117	EMILIN1	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
11117	EMILIN1	HP:0000418	Narrow nasal ridge	-	OMIM:130050
11117	EMILIN1	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
11117	EMILIN1	HP:0001762	Talipes equinovarus	-	OMIM:130050
11117	EMILIN1	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
11117	EMILIN1	HP:0001761	Pes cavus	2/3	OMIM:620080
11117	EMILIN1	HP:0001761	Pes cavus	49/146	OMIM:154700
11117	EMILIN1	HP:0000518	Cataract	1/5	OMIM:259770
11117	EMILIN1	HP:0000518	Cataract	118/199	OMIM:154700
11117	EMILIN1	HP:0000518	Cataract	1/1	OMIM:612394
11117	EMILIN1	HP:0001840	Metatarsus adductus	-	OMIM:121050
11117	EMILIN1	HP:0001840	Metatarsus adductus	-	OMIM:182212
11117	EMILIN1	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
11117	EMILIN1	HP:0001842	Foot acroosteolysis	-	OMIM:130050
11117	EMILIN1	HP:0000520	Proptosis	29/37	OMIM:182212
11117	EMILIN1	HP:0000506	Telecanthus	-	OMIM:182212
11117	EMILIN1	HP:0000508	Ptosis	16/37	OMIM:182212
11117	EMILIN1	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
11117	EMILIN1	HP:0000501	Glaucoma	29/625	OMIM:154700
11117	EMILIN1	HP:0000581	Blepharophimosis	-	OMIM:208050
11117	EMILIN1	HP:0000577	Exotropia	72/626	OMIM:154700
11117	EMILIN1	HP:0000586	Shallow orbits	13/37	OMIM:182212
11117	EMILIN1	HP:0000586	Shallow orbits	1/1	OMIM:612394
11117	EMILIN1	HP:0000563	Keratoconus	-	OMIM:130050
11117	EMILIN1	HP:0000563	Keratoconus	3/14	OMIM:208050
11117	EMILIN1	HP:0011220	Prominent forehead	17/37	OMIM:182212
11117	EMILIN1	HP:0000568	Microphthalmia	1/5	OMIM:259770
11117	EMILIN1	HP:0000565	Esotropia	12/573	OMIM:154700
11117	EMILIN1	HP:0000541	Retinal detachment	-	OMIM:154700
11117	EMILIN1	HP:0001883	Talipes	13/53	OMIM:154700
11117	EMILIN1	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
11117	EMILIN1	HP:0000545	Myopia	-	OMIM:121050
11117	EMILIN1	HP:0000545	Myopia	6/15	OMIM:208050
11117	EMILIN1	HP:0000545	Myopia	93/251	OMIM:154700
11117	EMILIN1	HP:0000545	Myopia	1/1	OMIM:612394
11117	EMILIN1	HP:0000545	Myopia	9/37	OMIM:182212
11128	POLR3A	HP:0001176	Large hands	-	OMIM:264090
11128	POLR3A	HP:0025134	Increased serum estradiol	HP:0040284	ORPHA:3455
11128	POLR3A	HP:0002493	Upper motor neuron dysfunction	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0002415	Leukodystrophy	-	OMIM:607694
11128	POLR3A	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
11128	POLR3A	HP:0003758	Reduced subcutaneous adipose tissue	3/3	OMIM:264090
11128	POLR3A	HP:0003758	Reduced subcutaneous adipose tissue	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0002403	Positive Romberg sign	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0003700	Generalized amyotrophy	3/3	OMIM:264090
11128	POLR3A	HP:0003712	Skeletal muscle hypertrophy	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0001293	Cranial nerve compression	-	OMIM:131300
11128	POLR3A	HP:0001290	Generalized hypotonia	-	OMIM:264090
11128	POLR3A	HP:0100807	Long fingers	-	OMIM:264090
11128	POLR3A	HP:0100807	Long fingers	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0001276	Hypertonia	4/5	OMIM:264090
11128	POLR3A	HP:0001276	Hypertonia	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0001272	Cerebellar atrophy	-	OMIM:607694
11128	POLR3A	HP:0001274	Agenesis of corpus callosum	-	OMIM:264090
11128	POLR3A	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0001289	Confusion	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0001250	Seizure	3/19	OMIM:607694
11128	POLR3A	HP:0001250	Seizure	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0001252	Hypotonia	-	OMIM:264090
11128	POLR3A	HP:0001252	Hypotonia	2/7	OMIM:615777
11128	POLR3A	HP:0001251	Ataxia	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0001251	Ataxia	-	OMIM:607694
11128	POLR3A	HP:0001251	Ataxia	HP:0040281	ORPHA:88637
11128	POLR3A	HP:0001251	Ataxia	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0001249	Intellectual disability	-	OMIM:264090
11128	POLR3A	HP:0001249	Intellectual disability	5/7	OMIM:615777
11128	POLR3A	HP:0001260	Dysarthria	-	OMIM:607694
11128	POLR3A	HP:0001263	Global developmental delay	-	OMIM:264090
11128	POLR3A	HP:0001263	Global developmental delay	7/19	OMIM:607694
11128	POLR3A	HP:0001263	Global developmental delay	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0001263	Global developmental delay	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0001263	Global developmental delay	-	OMIM:615777
11128	POLR3A	HP:0001257	Spasticity	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0001257	Spasticity	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0001257	Spasticity	-	OMIM:607694
11128	POLR3A	HP:0010994	Abnormal corpus striatum morphology	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:447896
11128	POLR3A	HP:0002515	Waddling gait	54/102	OMIM:131300
11128	POLR3A	HP:0002509	Limb hypertonia	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0002505	Loss of ambulation	12/19	OMIM:607694
11128	POLR3A	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000044	Hypogonadotropic hypogonadism	7/18	OMIM:607694
11128	POLR3A	HP:0000040	Long penis	2/3	OMIM:264090
11128	POLR3A	HP:0001371	Flexion contracture	HP:0040283	OMIM:264090
11128	POLR3A	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0001382	Joint hypermobility	-	OMIM:615777
11128	POLR3A	HP:0000047	Hypospadias	HP:0040283	OMIM:264090
11128	POLR3A	HP:0000047	Hypospadias	HP:0040284	ORPHA:3455
11128	POLR3A	HP:0002684	Thickened calvaria	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0001347	Hyperreflexia	-	OMIM:607694
11128	POLR3A	HP:0002694	Sclerosis of skull base	-	OMIM:131300
11128	POLR3A	HP:0002692	Hypoplastic facial bones	8/10	OMIM:264090
11128	POLR3A	HP:0000028	Cryptorchidism	1/1	OMIM:264090
11128	POLR3A	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0008897	Postnatal growth retardation	-	OMIM:615777
11128	POLR3A	HP:0008846	Severe intrauterine growth retardation	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0007495	Prematurely aged appearance	7/7	OMIM:264090
11128	POLR3A	HP:0007485	Absence of subcutaneous fat	-	OMIM:264090
11128	POLR3A	HP:0001332	Dystonia	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0001332	Dystonia	-	OMIM:607694
11128	POLR3A	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
11128	POLR3A	HP:0001324	Muscle weakness	40/96	OMIM:131300
11128	POLR3A	HP:0001324	Muscle weakness	-	OMIM:264090
11128	POLR3A	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
11128	POLR3A	HP:0000007	Autosomal recessive inheritance	-	OMIM:264090
11128	POLR3A	HP:0000007	Autosomal recessive inheritance	-	OMIM:607694
11128	POLR3A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
11128	POLR3A	HP:0001337	Tremor	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0001337	Tremor	11/19	OMIM:607694
11128	POLR3A	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
11128	POLR3A	HP:0001310	Dysmetria	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0001310	Dysmetria	-	OMIM:607694
11128	POLR3A	HP:0001305	Dandy-Walker malformation	-	OMIM:264090
11128	POLR3A	HP:0002650	Scoliosis	-	OMIM:264090
11128	POLR3A	HP:0002650	Scoliosis	12/14	OMIM:131300
11128	POLR3A	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
11128	POLR3A	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
11128	POLR3A	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
11128	POLR3A	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
11128	POLR3A	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0025460	High myoinositol in brain by MRS	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0000160	Narrow mouth	-	OMIM:264090
11128	POLR3A	HP:0000160	Narrow mouth	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0000175	Cleft palate	2/7	OMIM:615777
11128	POLR3A	HP:0001476	Delayed closure of the anterior fontanelle	-	OMIM:264090
11128	POLR3A	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0002714	Downturned corners of mouth	-	OMIM:264090
11128	POLR3A	HP:0002714	Downturned corners of mouth	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0004691	2-3 toe syndactyly	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0003326	Myalgia	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0002015	Dysphagia	-	OMIM:264090
11128	POLR3A	HP:0002015	Dysphagia	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0002015	Dysphagia	7/19	OMIM:607694
11128	POLR3A	HP:0002007	Frontal bossing	-	OMIM:264090
11128	POLR3A	HP:0002007	Frontal bossing	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0005978	Type II diabetes mellitus	HP:0040284	ORPHA:3455
11128	POLR3A	HP:0011819	Submucous cleft soft palate	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0002080	Intention tremor	-	OMIM:264090
11128	POLR3A	HP:0002080	Intention tremor	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0002090	Pneumonia	2/3	OMIM:264090
11128	POLR3A	HP:0002078	Truncal ataxia	-	OMIM:264090
11128	POLR3A	HP:0002078	Truncal ataxia	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:607694
11128	POLR3A	HP:0003388	Easy fatigability	36/76	OMIM:131300
11128	POLR3A	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
11128	POLR3A	HP:0100581	Dilatation of renal calices	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0100578	Lipoatrophy	-	OMIM:264090
11128	POLR3A	HP:0100578	Lipoatrophy	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0002155	Hypertriglyceridemia	HP:0040283	OMIM:264090
11128	POLR3A	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0003487	Babinski sign	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0003487	Babinski sign	-	OMIM:607694
11128	POLR3A	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:447896
11128	POLR3A	HP:0002120	Cerebral cortical atrophy	-	OMIM:607694
11128	POLR3A	HP:0002134	Abnormal basal ganglia morphology	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0003429	CNS hypomyelination	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0003429	CNS hypomyelination	HP:0040281	ORPHA:88637
11128	POLR3A	HP:0003429	CNS hypomyelination	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0003429	CNS hypomyelination	-	OMIM:607694
11128	POLR3A	HP:0003413	Atlantoaxial abnormality	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040283	ORPHA:447896
11128	POLR3A	HP:0002174	Postural tremor	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0002174	Postural tremor	-	OMIM:607694
11128	POLR3A	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0010511	Long toe	-	OMIM:264090
11128	POLR3A	HP:0010511	Long toe	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0003593	Infantile onset	2/19	OMIM:607694
11128	POLR3A	HP:0003577	Congenital onset	13/13	OMIM:264090
11128	POLR3A	HP:0003577	Congenital onset	1/19	OMIM:607694
11128	POLR3A	HP:0002223	Absent eyebrow	1/3	OMIM:264090
11128	POLR3A	HP:0002209	Sparse scalp hair	7/7	OMIM:264090
11128	POLR3A	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0002205	Recurrent respiratory infections	-	OMIM:264090
11128	POLR3A	HP:0100769	Synovitis	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0002293	Alopecia of scalp	3/3	OMIM:264090
11128	POLR3A	HP:0010648	Dermal translucency	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0011968	Feeding difficulties	-	OMIM:264090
11128	POLR3A	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0003510	Severe short stature	7/7	OMIM:615777
11128	POLR3A	HP:0007099	Chiari type I malformation	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0008386	Aplasia/Hypoplasia of the nails	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0002376	Developmental regression	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0002376	Developmental regression	19/19	OMIM:607694
11128	POLR3A	HP:0001043	Prominent scalp veins	10/10	OMIM:264090
11128	POLR3A	HP:0001043	Prominent scalp veins	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0002345	Action tremor	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0003676	Progressive	-	OMIM:607694
11128	POLR3A	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0001007	Hirsutism	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0002315	Headache	-	OMIM:131300
11128	POLR3A	HP:0004976	Knee dislocation	6/7	OMIM:615777
11128	POLR3A	HP:0100678	Premature skin wrinkling	3/3	OMIM:264090
11128	POLR3A	HP:0100678	Premature skin wrinkling	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:447896
11128	POLR3A	HP:0009830	Peripheral neuropathy	HP:0040283	OMIM:607694
11128	POLR3A	HP:0100613	Death in early adulthood	3/19	OMIM:607694
11128	POLR3A	HP:0009803	Short phalanx of finger	-	OMIM:615777
11128	POLR3A	HP:0008476	Irregular sclerotic endplates	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0008479	Hypoplastic vertebral bodies	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0008469	Cervical vertebral dysplasia	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0009763	Limb pain	63/92	OMIM:131300
11128	POLR3A	HP:0002312	Clumsiness	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0002308	Chiari malformation	-	OMIM:264090
11128	POLR3A	HP:0002307	Drooling	HP:0040283	ORPHA:447896
11128	POLR3A	HP:0002307	Drooling	7/19	OMIM:607694
11128	POLR3A	HP:0003621	Juvenile onset	10/19	OMIM:607694
11128	POLR3A	HP:0003621	Juvenile onset	-	OMIM:131300
11128	POLR3A	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
11128	POLR3A	HP:0006858	Impaired distal proprioception	HP:0040283	ORPHA:447896
11128	POLR3A	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
11128	POLR3A	HP:0000640	Gaze-evoked nystagmus	3/19	OMIM:607694
11128	POLR3A	HP:0000639	Nystagmus	-	OMIM:264090
11128	POLR3A	HP:0000639	Nystagmus	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0000639	Nystagmus	HP:0040282	ORPHA:447896
11128	POLR3A	HP:6001056	Out-toeing	-	OMIM:131300
11128	POLR3A	HP:0000651	Diplopia	-	OMIM:131300
11128	POLR3A	HP:0000648	Optic atrophy	HP:0040283	ORPHA:447896
11128	POLR3A	HP:0000648	Optic atrophy	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0000648	Optic atrophy	4/19	OMIM:607694
11128	POLR3A	HP:0000617	Abnormality of ocular smooth pursuit	13/19	OMIM:607694
11128	POLR3A	HP:0000617	Abnormality of ocular smooth pursuit	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0001945	Fever	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0001956	Truncal obesity	2/7	OMIM:615777
11128	POLR3A	HP:0000621	Entropion	1/3	OMIM:264090
11128	POLR3A	HP:0000621	Entropion	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0000601	Hypotelorism	1/3	OMIM:264090
11128	POLR3A	HP:0001903	Anemia	HP:0040283	OMIM:131300
11128	POLR3A	HP:0010049	Short metacarpal	-	OMIM:615777
11128	POLR3A	HP:0009059	Congenital generalized lipodystrophy	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0000684	Delayed eruption of teeth	-	OMIM:264090
11128	POLR3A	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0000678	Dental crowding	-	OMIM:615777
11128	POLR3A	HP:0000677	Oligodontia	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0000677	Oligodontia	-	OMIM:607694
11128	POLR3A	HP:0000695	Natal tooth	7/7	OMIM:264090
11128	POLR3A	HP:0000695	Natal tooth	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0009003	Increased subcutaneous truncal adipose tissue	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000656	Ectropion	-	OMIM:264090
11128	POLR3A	HP:0000653	Sparse eyelashes	-	OMIM:264090
11128	POLR3A	HP:0000670	Carious teeth	-	OMIM:131300
11128	POLR3A	HP:0011304	Broad thumb	2/7	OMIM:615777
11128	POLR3A	HP:0000668	Hypodontia	HP:0040281	ORPHA:88637
11128	POLR3A	HP:0000668	Hypodontia	-	OMIM:615777
11128	POLR3A	HP:0000668	Hypodontia	-	OMIM:264090
11128	POLR3A	HP:0000668	Hypodontia	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0000668	Hypodontia	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000668	Hypodontia	15/19	OMIM:607694
11128	POLR3A	HP:0000664	Synophrys	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000664	Synophrys	-	OMIM:615777
11128	POLR3A	HP:0004322	Short stature	-	OMIM:264090
11128	POLR3A	HP:0004322	Short stature	-	OMIM:607694
11128	POLR3A	HP:0004322	Short stature	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0004322	Short stature	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0004396	Poor appetite	-	OMIM:131300
11128	POLR3A	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
11128	POLR3A	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
11128	POLR3A	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
11128	POLR3A	HP:0003026	Short long bone	7/7	OMIM:615777
11128	POLR3A	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
11128	POLR3A	HP:0011410	Caesarean section	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000771	Gynecomastia	-	OMIM:264090
11128	POLR3A	HP:0000771	Gynecomastia	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0000767	Pectus excavatum	2/7	OMIM:615777
11128	POLR3A	HP:0000768	Pectus carinatum	1/7	OMIM:615777
11128	POLR3A	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
11128	POLR3A	HP:0000750	Delayed speech and language development	-	OMIM:615777
11128	POLR3A	HP:0011463	Childhood onset	6/19	OMIM:607694
11128	POLR3A	HP:0011461	Fetal onset	7/7	OMIM:615777
11128	POLR3A	HP:0000778	Hypoplasia of the thymus	1/3	OMIM:264090
11128	POLR3A	HP:0000774	Narrow chest	2/3	OMIM:264090
11128	POLR3A	HP:0000774	Narrow chest	2/7	OMIM:615777
11128	POLR3A	HP:0003100	Slender long bone	7/7	OMIM:264090
11128	POLR3A	HP:0000926	Platyspondyly	1/7	OMIM:615777
11128	POLR3A	HP:0003180	Flat acetabular roof	-	OMIM:615777
11128	POLR3A	HP:0004482	Relative macrocephaly	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0004482	Relative macrocephaly	-	OMIM:615777
11128	POLR3A	HP:0004492	Widely patent fontanelles and sutures	7/7	OMIM:264090
11128	POLR3A	HP:0004492	Widely patent fontanelles and sutures	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0005792	Short humerus	-	OMIM:264090
11128	POLR3A	HP:0005792	Short humerus	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
11128	POLR3A	HP:0000883	Thin ribs	-	OMIM:264090
11128	POLR3A	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000836	Hyperthyroidism	HP:0040284	ORPHA:3455
11128	POLR3A	HP:0012811	Wide nasal ridge	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0003097	Short femur	-	OMIM:264090
11128	POLR3A	HP:0003097	Short femur	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:88637
11128	POLR3A	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000823	Delayed puberty	-	OMIM:131300
11128	POLR3A	HP:0000823	Delayed puberty	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0000823	Delayed puberty	HP:0040281	OMIM:607694
11128	POLR3A	HP:0000894	Short clavicles	-	OMIM:615777
11128	POLR3A	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
11128	POLR3A	HP:0045075	Sparse eyebrow	-	OMIM:264090
11128	POLR3A	HP:0003269	Sudanophilic leukodystrophy	-	OMIM:264090
11128	POLR3A	HP:0000958	Dry skin	3/3	OMIM:264090
11128	POLR3A	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
11128	POLR3A	HP:0000956	Acanthosis nigricans	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000963	Thin skin	3/3	OMIM:264090
11128	POLR3A	HP:0000963	Thin skin	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000938	Osteopenia	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0045025	Narrow palpebral fissure	1/3	OMIM:264090
11128	POLR3A	HP:0045017	Congenital malformation of the left heart	HP:0040284	ORPHA:3455
11128	POLR3A	HP:0000946	Hypoplastic ilia	-	OMIM:264090
11128	POLR3A	HP:0000946	Hypoplastic ilia	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0008070	Sparse hair	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000286	Epicanthus	1/7	OMIM:615777
11128	POLR3A	HP:0000280	Coarse facial features	2/7	OMIM:615777
11128	POLR3A	HP:0000278	Retrognathia	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0000292	Loss of facial adipose tissue	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0001596	Alopecia	2/3	OMIM:264090
11128	POLR3A	HP:0000256	Macrocephaly	-	OMIM:264090
11128	POLR3A	HP:0000272	Malar flattening	-	OMIM:264090
11128	POLR3A	HP:0000272	Malar flattening	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0000267	Cranial asymmetry	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0006470	Thin long bone diaphyses	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0007766	Optic disc hypoplasia	HP:0040284	ORPHA:3455
11128	POLR3A	HP:0002827	Hip dislocation	3/7	OMIM:615777
11128	POLR3A	HP:0030084	Clinodactyly	1/3	OMIM:264090
11128	POLR3A	HP:0030088	Increased serum testosterone level	-	OMIM:264090
11128	POLR3A	HP:0030088	Increased serum testosterone level	HP:0040284	ORPHA:3455
11128	POLR3A	HP:0000242	Parietal bossing	-	OMIM:264090
11128	POLR3A	HP:0000238	Hydrocephalus	-	OMIM:264090
11128	POLR3A	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000252	Microcephaly	-	OMIM:615777
11128	POLR3A	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000248	Brachycephaly	2/3	OMIM:264090
11128	POLR3A	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0000233	Thin vermilion border	2/3	OMIM:264090
11128	POLR3A	HP:0030001	Lagophthalmos	HP:0040284	ORPHA:3455
11128	POLR3A	HP:0002857	Genu valgum	-	OMIM:131300
11128	POLR3A	HP:0001533	Slender build	-	OMIM:131300
11128	POLR3A	HP:0001533	Slender build	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0001508	Failure to thrive	-	OMIM:264090
11128	POLR3A	HP:0001508	Failure to thrive	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0001518	Small for gestational age	7/7	OMIM:264090
11128	POLR3A	HP:0001511	Intrauterine growth retardation	-	OMIM:264090
11128	POLR3A	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
11128	POLR3A	HP:0001510	Growth delay	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0007807	Optic nerve compression	-	OMIM:131300
11128	POLR3A	HP:0000385	Small earlobe	1/3	OMIM:264090
11128	POLR3A	HP:0000387	Absent earlobe	1/3	OMIM:264090
11128	POLR3A	HP:0000387	Absent earlobe	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0012368	Flat face	7/7	OMIM:615777
11128	POLR3A	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
11128	POLR3A	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0005164	Dysplastic pulmonary valve	HP:0040284	ORPHA:3455
11128	POLR3A	HP:0006480	Premature loss of teeth	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000365	Hearing impairment	10/67	OMIM:131300
11128	POLR3A	HP:0000364	Hearing abnormality	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000358	Posteriorly rotated ears	2/3	OMIM:264090
11128	POLR3A	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0000369	Low-set ears	7/7	OMIM:264090
11128	POLR3A	HP:0000369	Low-set ears	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000343	Long philtrum	2/3	OMIM:264090
11128	POLR3A	HP:0000343	Long philtrum	1/7	OMIM:615777
11128	POLR3A	HP:0011001	Increased bone mineral density	-	OMIM:131300
11128	POLR3A	HP:0000337	Broad forehead	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0000336	Prominent supraorbital ridges	2/3	OMIM:264090
11128	POLR3A	HP:0001684	Secundum atrial septal defect	1/3	OMIM:264090
11128	POLR3A	HP:0000347	Micrognathia	3/3	OMIM:264090
11128	POLR3A	HP:0000319	Smooth philtrum	1/3	OMIM:264090
11128	POLR3A	HP:0000316	Hypertelorism	1/3	OMIM:264090
11128	POLR3A	HP:0000316	Hypertelorism	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0000311	Round face	2/7	OMIM:615777
11128	POLR3A	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0000322	Short philtrum	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0000325	Triangular face	3/3	OMIM:264090
11128	POLR3A	HP:0000325	Triangular face	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0002970	Genu varum	1/3	OMIM:264090
11128	POLR3A	HP:0002970	Genu varum	-	OMIM:615777
11128	POLR3A	HP:0000307	Pointed chin	3/3	OMIM:264090
11128	POLR3A	HP:0000307	Pointed chin	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0000303	Mandibular prognathia	-	OMIM:131300
11128	POLR3A	HP:0007957	Corneal opacity	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0005328	Progeroid facial appearance	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0005341	Autonomic bladder dysfunction	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0005280	Depressed nasal bridge	3/3	OMIM:264090
11128	POLR3A	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
11128	POLR3A	HP:0000494	Downslanted palpebral fissures	-	OMIM:264090
11128	POLR3A	HP:0000490	Deeply set eye	-	OMIM:264090
11128	POLR3A	HP:0000490	Deeply set eye	HP:0040284	ORPHA:447896
11128	POLR3A	HP:0000490	Deeply set eye	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0001792	Small nail	-	OMIM:264090
11128	POLR3A	HP:0000463	Anteverted nares	1/3	OMIM:264090
11128	POLR3A	HP:0000463	Anteverted nares	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0000460	Narrow nose	1/3	OMIM:264090
11128	POLR3A	HP:0000472	Long neck	1/3	OMIM:264090
11128	POLR3A	HP:0000470	Short neck	1/3	OMIM:264090
11128	POLR3A	HP:0000470	Short neck	1/7	OMIM:615777
11128	POLR3A	HP:0001769	Broad foot	HP:0040283	OMIM:615777
11128	POLR3A	HP:0001763	Pes planus	1/7	OMIM:615777
11128	POLR3A	HP:0030265	Wide penis	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0000444	Convex nasal ridge	7/7	OMIM:264090
11128	POLR3A	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0000418	Narrow nasal ridge	-	OMIM:264090
11128	POLR3A	HP:0001762	Talipes equinovarus	1/3	OMIM:264090
11128	POLR3A	HP:0000518	Cataract	1/3	OMIM:264090
11128	POLR3A	HP:0000518	Cataract	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0001840	Metatarsus adductus	-	OMIM:615777
11128	POLR3A	HP:0000511	Vertical supranuclear gaze palsy	6/19	OMIM:607694
11128	POLR3A	HP:0000511	Vertical supranuclear gaze palsy	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0000520	Proptosis	2/4	OMIM:131300
11128	POLR3A	HP:0000520	Proptosis	2/3	OMIM:264090
11128	POLR3A	HP:0000520	Proptosis	7/7	OMIM:615777
11128	POLR3A	HP:0001833	Long foot	-	OMIM:264090
11128	POLR3A	HP:0000598	Abnormality of the ear	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000582	Upslanted palpebral fissure	-	OMIM:264090
11128	POLR3A	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:3455
11128	POLR3A	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:3455
11128	POLR3A	HP:0000592	Blue sclerae	2/7	OMIM:615777
11128	POLR3A	HP:0000592	Blue sclerae	-	OMIM:264090
11128	POLR3A	HP:0000592	Blue sclerae	HP:0040284	ORPHA:3455
11128	POLR3A	HP:0011229	Broad eyebrow	HP:0040284	OMIM:264090
11128	POLR3A	HP:0000561	Absent eyelashes	1/3	OMIM:264090
11128	POLR3A	HP:0011220	Prominent forehead	3/3	OMIM:264090
11128	POLR3A	HP:0000540	Hypermetropia	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
11128	POLR3A	HP:0012514	Lower limb pain	4/4	OMIM:131300
11128	POLR3A	HP:0000545	Myopia	HP:0040282	ORPHA:447896
11128	POLR3A	HP:0000545	Myopia	HP:0040282	ORPHA:3455
11128	POLR3A	HP:0000545	Myopia	-	OMIM:607694
11133	KPTN	HP:0001270	Motor delay	1/2	OMIM:615637
11133	KPTN	HP:0001250	Seizure	HP:0040283	ORPHA:397612
11133	KPTN	HP:0001252	Hypotonia	6/9	OMIM:615637
11133	KPTN	HP:0001252	Hypotonia	HP:0040283	ORPHA:397612
11133	KPTN	HP:0001249	Intellectual disability	10/11	OMIM:615637
11133	KPTN	HP:0001249	Intellectual disability	HP:0040282	ORPHA:397612
11133	KPTN	HP:0001263	Global developmental delay	1/2	OMIM:615637
11133	KPTN	HP:0001212	Prominent fingertip pads	2/9	OMIM:615637
11133	KPTN	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:397612
11133	KPTN	HP:0000007	Autosomal recessive inheritance	-	OMIM:615637
11133	KPTN	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:397612
11133	KPTN	HP:0002007	Frontal bossing	9/9	OMIM:615637
11133	KPTN	HP:0002007	Frontal bossing	HP:0040282	ORPHA:397612
11133	KPTN	HP:0100540	Palpebral edema	HP:0040283	ORPHA:397612
11133	KPTN	HP:0002069	Bilateral tonic-clonic seizure	3/9	OMIM:615637
11133	KPTN	HP:0002121	Generalized non-motor (absence) seizure	2/9	OMIM:615637
11133	KPTN	HP:0002119	Ventriculomegaly	1/9	OMIM:615637
11133	KPTN	HP:0002197	Generalized-onset seizure	1/2	OMIM:615637
11133	KPTN	HP:0002240	Hepatomegaly	1/9	OMIM:615637
11133	KPTN	HP:0100716	Self-injurious behavior	1/2	OMIM:615637
11133	KPTN	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:397612
11133	KPTN	HP:0010845	EEG with generalized slow activity	HP:0040283	ORPHA:397612
11133	KPTN	HP:0003621	Juvenile onset	1/2	OMIM:615637
11133	KPTN	HP:0004209	Clinodactyly of the 5th finger	3/9	OMIM:615637
11133	KPTN	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:397612
11133	KPTN	HP:0001963	Abnormal speech discrimination	HP:0040282	ORPHA:397612
11133	KPTN	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:397612
11133	KPTN	HP:0000739	Anxiety	9/11	OMIM:615637
11133	KPTN	HP:0000739	Anxiety	HP:0040282	ORPHA:397612
11133	KPTN	HP:0000733	Motor stereotypy	6/11	OMIM:615637
11133	KPTN	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:397612
11133	KPTN	HP:0000750	Delayed speech and language development	10/11	OMIM:615637
11133	KPTN	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:397612
11133	KPTN	HP:0000729	Autistic behavior	1/2	OMIM:615637
11133	KPTN	HP:0000729	Autistic behavior	HP:0040283	ORPHA:397612
11133	KPTN	HP:0011463	Childhood onset	1/2	OMIM:615637
11133	KPTN	HP:0030799	Scaphocephaly	3/9	OMIM:615637
11133	KPTN	HP:0030799	Scaphocephaly	HP:0040283	ORPHA:397612
11133	KPTN	HP:0045025	Narrow palpebral fissure	HP:0040283	ORPHA:397612
11133	KPTN	HP:0000278	Retrognathia	2/2	OMIM:615637
11133	KPTN	HP:0000256	Macrocephaly	9/10	OMIM:615637
11133	KPTN	HP:0000256	Macrocephaly	HP:0040282	ORPHA:397612
11133	KPTN	HP:0000268	Dolichocephaly	-	OMIM:615637
11133	KPTN	HP:0000218	High palate	2/2	OMIM:615637
11133	KPTN	HP:0000218	High palate	HP:0040283	ORPHA:397612
11133	KPTN	HP:0006532	Recurrent pneumonia	2/9	OMIM:615637
11133	KPTN	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:397612
11133	KPTN	HP:0000316	Hypertelorism	2/9	OMIM:615637
11133	KPTN	HP:0000308	Microretrognathia	HP:0040283	ORPHA:397612
11133	KPTN	HP:0000303	Mandibular prognathia	5/9	OMIM:615637
11133	KPTN	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:397612
11133	KPTN	HP:0000494	Downslanted palpebral fissures	-	OMIM:615637
11133	KPTN	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:397612
11133	KPTN	HP:0000455	Broad nasal tip	-	OMIM:615637
11133	KPTN	HP:0001744	Splenomegaly	2/9	OMIM:615637
11133	KPTN	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:397612
11133	KPTN	HP:0011220	Prominent forehead	2/2	OMIM:615637
11133	KPTN	HP:0011220	Prominent forehead	HP:0040283	ORPHA:397612
11136	SLC7A9	HP:0000083	Renal insufficiency	-	OMIM:220100
11136	SLC7A9	HP:0000010	Recurrent urinary tract infections	-	OMIM:220100
11136	SLC7A9	HP:0000007	Autosomal recessive inheritance	-	OMIM:220100
11136	SLC7A9	HP:0000006	Autosomal dominant inheritance	-	OMIM:220100
11136	SLC7A9	HP:0003532	Ornithinuria	-	OMIM:220100
11136	SLC7A9	HP:0000787	Nephrolithiasis	-	OMIM:220100
11136	SLC7A9	HP:0003131	Cystinuria	-	OMIM:220100
11136	SLC7A9	HP:0003297	Hyperlysinuria	-	OMIM:220100
11136	SLC7A9	HP:0003268	Argininuria	-	OMIM:220100
11141	IL1RAPL1	HP:0009909	Uplifted earlobe	-	OMIM:300143
11141	IL1RAPL1	HP:0001250	Seizure	2/5	OMIM:300143
11141	IL1RAPL1	HP:0001382	Joint hypermobility	5/5	OMIM:300143
11141	IL1RAPL1	HP:0000053	Macroorchidism	1/4	OMIM:300143
11141	IL1RAPL1	HP:0000194	Open mouth	-	OMIM:300143
11141	IL1RAPL1	HP:0001419	X-linked recessive inheritance	-	OMIM:300143
11141	IL1RAPL1	HP:0100710	Impulsivity	2/5	OMIM:300143
11141	IL1RAPL1	HP:0002342	Intellectual disability, moderate	3/3	OMIM:300143
11141	IL1RAPL1	HP:0010804	Tented upper lip vermilion	-	OMIM:300143
11141	IL1RAPL1	HP:0000678	Dental crowding	-	OMIM:300143
11141	IL1RAPL1	HP:0000664	Synophrys	3/5	OMIM:300143
11141	IL1RAPL1	HP:0000752	Hyperactivity	-	OMIM:300143
11141	IL1RAPL1	HP:0000717	Autism	-	OMIM:300143
11141	IL1RAPL1	HP:0003196	Short nose	-	OMIM:300143
11141	IL1RAPL1	HP:0001611	Hypernasal speech	2/5	OMIM:300143
11141	IL1RAPL1	HP:0000316	Hypertelorism	-	OMIM:300143
11141	IL1RAPL1	HP:0000303	Mandibular prognathia	4/5	OMIM:300143
11141	IL1RAPL1	HP:0000486	Strabismus	2/5	OMIM:300143
11141	IL1RAPL1	HP:0000582	Upslanted palpebral fissure	-	OMIM:300143
11145	PLAAT3	HP:0003712	Skeletal muscle hypertrophy	7/7	OMIM:620683
11145	PLAAT3	HP:0001284	Areflexia	2/7	OMIM:620683
11145	PLAAT3	HP:0001249	Intellectual disability	3/7	OMIM:620683
11145	PLAAT3	HP:0001263	Global developmental delay	3/7	OMIM:620683
11145	PLAAT3	HP:0001397	Hepatic steatosis	7/7	OMIM:620683
11145	PLAAT3	HP:0000007	Autosomal recessive inheritance	-	OMIM:620683
11145	PLAAT3	HP:0002650	Scoliosis	3/7	OMIM:620683
11145	PLAAT3	HP:0033794	Acral overgrowth	4/7	OMIM:620683
11145	PLAAT3	HP:0000147	Polycystic ovaries	3/3	OMIM:620683
11145	PLAAT3	HP:0004691	2-3 toe syndactyly	1/7	OMIM:620683
11145	PLAAT3	HP:0003326	Myalgia	5/6	OMIM:620683
11145	PLAAT3	HP:0003307	Hyperlordosis	2/7	OMIM:620683
11145	PLAAT3	HP:0002064	Spastic gait	1/7	OMIM:620683
11145	PLAAT3	HP:0002076	Migraine	1/7	OMIM:620683
11145	PLAAT3	HP:0100578	Lipoatrophy	6/7	OMIM:620683
11145	PLAAT3	HP:0002155	Hypertriglyceridemia	5/7	OMIM:620683
11145	PLAAT3	HP:0003593	Infantile onset	1/5	OMIM:620683
11145	PLAAT3	HP:0002240	Hepatomegaly	5/7	OMIM:620683
11145	PLAAT3	HP:0007099	Chiari type I malformation	1/4	OMIM:620683
11145	PLAAT3	HP:0001007	Hirsutism	4/4	OMIM:620683
11145	PLAAT3	HP:0007108	Demyelinating peripheral neuropathy	5/5	OMIM:620683
11145	PLAAT3	HP:0003621	Juvenile onset	1/5	OMIM:620683
11145	PLAAT3	HP:0004322	Short stature	4/7	OMIM:620683
11145	PLAAT3	HP:0003074	Hyperglycemia	7/7	OMIM:620683
11145	PLAAT3	HP:0000771	Gynecomastia	3/3	OMIM:620683
11145	PLAAT3	HP:0011463	Childhood onset	2/5	OMIM:620683
11145	PLAAT3	HP:0011462	Young adult onset	1/5	OMIM:620683
11145	PLAAT3	HP:0009125	Lipodystrophy	1/1	OMIM:620683
11145	PLAAT3	HP:0004425	Flat forehead	1/7	OMIM:620683
11145	PLAAT3	HP:0000831	Insulin-resistant diabetes mellitus	7/7	OMIM:620683
11145	PLAAT3	HP:0000842	Hyperinsulinemia	3/3	OMIM:620683
11145	PLAAT3	HP:0000826	Precocious puberty	1/7	OMIM:620683
11145	PLAAT3	HP:0000822	Hypertension	3/6	OMIM:620683
11145	PLAAT3	HP:0000821	Hypothyroidism	2/7	OMIM:620683
11145	PLAAT3	HP:0003233	Decreased HDL cholesterol concentration	6/7	OMIM:620683
11145	PLAAT3	HP:0040217	Elevated hemoglobin A1c	7/7	OMIM:620683
11145	PLAAT3	HP:0000956	Acanthosis nigricans	5/7	OMIM:620683
11145	PLAAT3	HP:0002829	Arthralgia	5/6	OMIM:620683
11145	PLAAT3	HP:0002808	Kyphosis	3/7	OMIM:620683
11145	PLAAT3	HP:0002857	Genu valgum	1/7	OMIM:620683
11145	PLAAT3	HP:0030051	Tip-toe gait	3/7	OMIM:620683
11145	PLAAT3	HP:0000369	Low-set ears	1/7	OMIM:620683
11145	PLAAT3	HP:0000303	Mandibular prognathia	1/7	OMIM:620683
11145	PLAAT3	HP:0000490	Deeply set eye	1/7	OMIM:620683
11145	PLAAT3	HP:0000470	Short neck	2/7	OMIM:620683
11145	PLAAT3	HP:0001771	Achilles tendon contracture	3/7	OMIM:620683
11145	PLAAT3	HP:0000448	Prominent nose	2/7	OMIM:620683
11145	PLAAT3	HP:0000444	Convex nasal ridge	1/7	OMIM:620683
11145	PLAAT3	HP:0001761	Pes cavus	3/7	OMIM:620683
11146	GLMN	HP:0000006	Autosomal dominant inheritance	-	OMIM:138000
11146	GLMN	HP:0002629	Gastrointestinal arteriovenous malformation	HP:0040284	ORPHA:83454
11146	GLMN	HP:0002778	Abnormal tracheal morphology	HP:0040284	ORPHA:83454
11146	GLMN	HP:0010640	Abnormal nasal cavity morphology	HP:0040284	ORPHA:83454
11146	GLMN	HP:0200036	Skin nodule	HP:0040282	ORPHA:83454
11146	GLMN	HP:0200035	Skin plaque	HP:0040283	ORPHA:83454
11146	GLMN	HP:0200034	Papule	HP:0040283	ORPHA:83454
11146	GLMN	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:138000
11146	GLMN	HP:0011355	Localized skin lesion	HP:0040283	ORPHA:83454
11146	GLMN	HP:0011354	Generalized abnormality of skin	HP:0040283	ORPHA:83454
11146	GLMN	HP:0012721	Venous malformation	HP:0040281	ORPHA:83454
11146	GLMN	HP:0100026	Arteriovenous malformation	HP:0040281	ORPHA:83454
11146	GLMN	HP:0045026	Abnormal mediastinum morphology	HP:0040284	ORPHA:83454
11146	GLMN	HP:0000951	Abnormality of the skin	-	OMIM:138000
11146	GLMN	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:83454
11146	GLMN	HP:0002814	Abnormality of the lower limb	HP:0040283	ORPHA:83454
11146	GLMN	HP:0012210	Abnormal renal morphology	HP:0040284	ORPHA:83454
11146	GLMN	HP:0031445	Oral mucosa nodule	HP:0040284	ORPHA:83454
11146	GLMN	HP:0011297	Abnormal digit morphology	HP:0040282	ORPHA:83454
11149	POPDC1	HP:0003701	Proximal muscle weakness	-	OMIM:616812
11149	POPDC1	HP:0003713	Muscle fiber necrosis	1/3	OMIM:616812
11149	POPDC1	HP:0001288	Gait disturbance	HP:0040284	OMIM:616812
11149	POPDC1	HP:0001279	Syncope	3/3	OMIM:616812
11149	POPDC1	HP:0002505	Loss of ambulation	-	OMIM:616812
11149	POPDC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616812
11149	POPDC1	HP:0003325	Limb-girdle muscle weakness	1/3	OMIM:616812
11149	POPDC1	HP:0003326	Myalgia	-	OMIM:616812
11149	POPDC1	HP:0011706	Second degree atrioventricular block	3/3	OMIM:616812
11149	POPDC1	HP:0003596	Middle age onset	1/3	OMIM:616812
11149	POPDC1	HP:0003546	Exercise intolerance	-	OMIM:616812
11149	POPDC1	HP:0003560	Muscular dystrophy	-	OMIM:616812
11149	POPDC1	HP:0003557	Increased variability in muscle fiber diameter	1/3	OMIM:616812
11149	POPDC1	HP:0003690	Limb muscle weakness	1/3	OMIM:616812
11149	POPDC1	HP:0003687	Centrally nucleated skeletal muscle fibers	1/1	OMIM:616812
11149	POPDC1	HP:0003621	Juvenile onset	1/3	OMIM:616812
11149	POPDC1	HP:0001962	Palpitations	-	OMIM:616812
11149	POPDC1	HP:0003236	Elevated circulating creatine kinase concentration	2/3	OMIM:616812
11149	POPDC1	HP:0003202	Skeletal muscle atrophy	-	OMIM:616812
11149	POPDC1	HP:0001688	Sinus bradycardia	1/3	OMIM:616812
11149	POPDC1	HP:0025708	Early young adult onset	1/3	OMIM:616812
11151	CORO1A	HP:0001263	Global developmental delay	-	OMIM:615401
11151	CORO1A	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	1/1	OMIM:615401
11151	CORO1A	HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	1/1	OMIM:615401
11151	CORO1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615401
11151	CORO1A	HP:0002783	Recurrent lower respiratory tract infections	1/1	OMIM:615401
11151	CORO1A	HP:0002788	Recurrent upper respiratory tract infections	1/1	OMIM:615401
11151	CORO1A	HP:0002721	Immunodeficiency	1/1	OMIM:615401
11151	CORO1A	HP:0002020	Gastroesophageal reflux	1/1	OMIM:615401
11151	CORO1A	HP:0003593	Infantile onset	1/1	OMIM:615401
11151	CORO1A	HP:0007018	Attention deficit hyperactivity disorder	1/1	OMIM:615401
11151	CORO1A	HP:0009098	Chronic oral candidiasis	1/1	OMIM:615401
11151	CORO1A	HP:4000166	Post-vaccination varicella zoster virus infection	1/1	OMIM:615401
11151	CORO1A	HP:0000403	Recurrent otitis media	1/1	OMIM:615401
11151	CORO1A	HP:0001888	Decreased total lymphocyte count	1/1	OMIM:615401
11152	WDR45	HP:0002465	Poor speech	HP:0040282	ORPHA:329284
11152	WDR45	HP:0002465	Poor speech	-	OMIM:300894
11152	WDR45	HP:0002454	Eye of the tiger anomaly of globus pallidus	0/5	OMIM:300894
11152	WDR45	HP:0002448	Progressive encephalopathy	HP:0040282	ORPHA:329284
11152	WDR45	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:329284
11152	WDR45	HP:0001272	Cerebellar atrophy	-	OMIM:300894
11152	WDR45	HP:0001268	Mental deterioration	5/5	OMIM:300894
11152	WDR45	HP:0001250	Seizure	3/5	OMIM:300894
11152	WDR45	HP:0001250	Seizure	HP:0040283	ORPHA:329284
11152	WDR45	HP:0001249	Intellectual disability	-	OMIM:300894
11152	WDR45	HP:0001249	Intellectual disability	HP:0040282	ORPHA:329284
11152	WDR45	HP:0001263	Global developmental delay	5/5	OMIM:300894
11152	WDR45	HP:0001263	Global developmental delay	HP:0040282	ORPHA:329284
11152	WDR45	HP:0002521	Hypsarrhythmia	HP:0040281	ORPHA:697160
11152	WDR45	HP:0001332	Dystonia	HP:0040282	ORPHA:329284
11152	WDR45	HP:0001332	Dystonia	5/5	OMIM:300894
11152	WDR45	HP:0001344	Absent speech	2/5	OMIM:300894
11152	WDR45	HP:0000007	Autosomal recessive inheritance	-	OMIM:615179
11152	WDR45	HP:0001337	Tremor	HP:0040282	ORPHA:329284
11152	WDR45	HP:0001337	Tremor	1/5	OMIM:300894
11152	WDR45	HP:0001336	Myoclonus	HP:0040281	ORPHA:697160
11152	WDR45	HP:0001300	Parkinsonism	HP:0040282	ORPHA:329284
11152	WDR45	HP:0001300	Parkinsonism	-	OMIM:300894
11152	WDR45	HP:0007663	Reduced visual acuity	9/9	OMIM:615179
11152	WDR45	HP:0001423	X-linked dominant inheritance	-	OMIM:300894
11152	WDR45	HP:0002067	Bradykinesia	HP:0040282	ORPHA:329284
11152	WDR45	HP:0002067	Bradykinesia	-	OMIM:300894
11152	WDR45	HP:0002063	Rigidity	HP:0040282	ORPHA:329284
11152	WDR45	HP:0002063	Rigidity	5/5	OMIM:300894
11152	WDR45	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:329284
11152	WDR45	HP:0002059	Cerebral atrophy	5/5	OMIM:300894
11152	WDR45	HP:0002180	Neurodegeneration	-	OMIM:300894
11152	WDR45	HP:0033329	Abnormal postural reflex	1/5	OMIM:300894
11152	WDR45	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:329284
11152	WDR45	HP:0002376	Developmental regression	HP:0040281	ORPHA:697160
11152	WDR45	HP:0001022	Albinism	-	OMIM:615179
11152	WDR45	HP:0002313	Spastic paraparesis	HP:0040282	ORPHA:329284
11152	WDR45	HP:0002313	Spastic paraparesis	-	OMIM:300894
11152	WDR45	HP:0008499	High hypermetropia	4/9	OMIM:615179
11152	WDR45	HP:0002304	Akinesia	2/5	OMIM:300894
11152	WDR45	HP:0000639	Nystagmus	9/9	OMIM:615179
11152	WDR45	HP:0000648	Optic atrophy	HP:0040283	ORPHA:329284
11152	WDR45	HP:0000613	Photophobia	-	OMIM:615179
11152	WDR45	HP:0012675	Iron accumulation in brain	5/5	OMIM:300894
11152	WDR45	HP:0012675	Iron accumulation in brain	HP:0040282	ORPHA:329284
11152	WDR45	HP:0012678	Iron accumulation in substantia nigra	HP:0040282	ORPHA:329284
11152	WDR45	HP:0031936	Delayed ability to walk	3/5	OMIM:300894
11152	WDR45	HP:0000739	Anxiety	1/5	OMIM:300894
11152	WDR45	HP:0000750	Delayed speech and language development	5/5	OMIM:300894
11152	WDR45	HP:0000743	Frontal release signs	-	OMIM:300894
11152	WDR45	HP:0000743	Frontal release signs	HP:0040282	ORPHA:329284
11152	WDR45	HP:0000718	Aggressive behavior	2/5	OMIM:300894
11152	WDR45	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:329284
11152	WDR45	HP:0000726	Dementia	5/5	OMIM:300894
11152	WDR45	HP:0000726	Dementia	HP:0040282	ORPHA:329284
11152	WDR45	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:697160
11152	WDR45	HP:0011463	Childhood onset	5/5	OMIM:300894
11152	WDR45	HP:0012805	Iris transillumination defect	9/9	OMIM:615179
11152	WDR45	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	ORPHA:329284
11152	WDR45	HP:0012332	Abnormal autonomic nervous system physiology	-	OMIM:300894
11152	WDR45	HP:0012469	Infantile spasms	HP:0040281	ORPHA:697160
11152	WDR45	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:329284
11152	WDR45	HP:0000496	Abnormality of eye movement	-	OMIM:300894
11152	WDR45	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:697160
11152	WDR45	HP:0000577	Exotropia	1/9	OMIM:615179
11152	WDR45	HP:0000565	Esotropia	2/9	OMIM:615179
11154	AP4S1	HP:0002465	Poor speech	HP:0040282	ORPHA:280763
11154	AP4S1	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:280763
11154	AP4S1	HP:0100962	Excessive shyness	HP:0040283	ORPHA:280763
11154	AP4S1	HP:0100962	Excessive shyness	3/3	OMIM:614067
11154	AP4S1	HP:0010864	Intellectual disability, severe	3/3	OMIM:614067
11154	AP4S1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:280763
11154	AP4S1	HP:0001276	Hypertonia	3/3	OMIM:614067
11154	AP4S1	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:280763
11154	AP4S1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:280763
11154	AP4S1	HP:0001250	Seizure	HP:0040283	ORPHA:280763
11154	AP4S1	HP:0001252	Hypotonia	HP:0040281	ORPHA:280763
11154	AP4S1	HP:0001252	Hypotonia	3/3	OMIM:614067
11154	AP4S1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:280763
11154	AP4S1	HP:0001263	Global developmental delay	-	OMIM:614067
11154	AP4S1	HP:0001258	Spastic paraplegia	-	OMIM:614067
11154	AP4S1	HP:0001257	Spasticity	2/3	OMIM:614067
11154	AP4S1	HP:0001257	Spasticity	HP:0040282	ORPHA:280763
11154	AP4S1	HP:0007359	Focal-onset seizure	HP:0040283	OMIM:614067
11154	AP4S1	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:280763
11154	AP4S1	HP:0002515	Waddling gait	HP:0040282	ORPHA:280763
11154	AP4S1	HP:0002505	Loss of ambulation	-	OMIM:614067
11154	AP4S1	HP:0008807	Acetabular dysplasia	HP:0040284	ORPHA:280763
11154	AP4S1	HP:0001371	Flexion contracture	-	OMIM:614067
11154	AP4S1	HP:0001347	Hyperreflexia	1/1	OMIM:614067
11154	AP4S1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:280763
11154	AP4S1	HP:0001332	Dystonia	HP:0040282	ORPHA:280763
11154	AP4S1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614067
11154	AP4S1	HP:0000154	Wide mouth	-	OMIM:614067
11154	AP4S1	HP:0000154	Wide mouth	HP:0040283	ORPHA:280763
11154	AP4S1	HP:0008936	Axial hypotonia	-	OMIM:614067
11154	AP4S1	HP:0002761	Generalized joint hypermobility	HP:0040284	ORPHA:280763
11154	AP4S1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:280763
11154	AP4S1	HP:0003487	Babinski sign	-	OMIM:614067
11154	AP4S1	HP:0003487	Babinski sign	HP:0040282	ORPHA:280763
11154	AP4S1	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:280763
11154	AP4S1	HP:0007020	Progressive spastic paraplegia	HP:0040281	ORPHA:280763
11154	AP4S1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	OMIM:614067
11154	AP4S1	HP:0010803	Everted upper lip vermilion	HP:0040283	ORPHA:280763
11154	AP4S1	HP:0003623	Neonatal onset	3/3	OMIM:614067
11154	AP4S1	HP:0002307	Drooling	3/3	OMIM:614067
11154	AP4S1	HP:0002307	Drooling	HP:0040282	ORPHA:280763
11154	AP4S1	HP:0000646	Amblyopia	HP:0040284	ORPHA:280763
11154	AP4S1	HP:0004322	Short stature	HP:0040282	ORPHA:280763
11154	AP4S1	HP:0004322	Short stature	-	OMIM:614067
11154	AP4S1	HP:0031936	Delayed ability to walk	3/3	OMIM:614067
11154	AP4S1	HP:0100021	Cerebral palsy	-	OMIM:614067
11154	AP4S1	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:280763
11154	AP4S1	HP:0000280	Coarse facial features	-	OMIM:614067
11154	AP4S1	HP:0000280	Coarse facial features	HP:0040282	ORPHA:280763
11154	AP4S1	HP:0000297	Facial hypotonia	-	OMIM:614067
11154	AP4S1	HP:0000297	Facial hypotonia	HP:0040282	ORPHA:280763
11154	AP4S1	HP:0002816	Genu recurvatum	HP:0040284	ORPHA:280763
11154	AP4S1	HP:0000252	Microcephaly	HP:0040281	ORPHA:280763
11154	AP4S1	HP:0000252	Microcephaly	1/3	OMIM:614067
11154	AP4S1	HP:0000218	High palate	-	OMIM:614067
11154	AP4S1	HP:0000218	High palate	HP:0040283	ORPHA:280763
11154	AP4S1	HP:0025502	Overweight	HP:0040283	ORPHA:280763
11154	AP4S1	HP:0000341	Narrow forehead	HP:0040283	ORPHA:280763
11154	AP4S1	HP:0000316	Hypertelorism	-	OMIM:614067
11154	AP4S1	HP:0000322	Short philtrum	-	OMIM:614067
11154	AP4S1	HP:0000322	Short philtrum	HP:0040283	ORPHA:280763
11154	AP4S1	HP:0000486	Strabismus	HP:0040284	ORPHA:280763
11154	AP4S1	HP:0012471	Thick vermilion border	-	OMIM:614067
11154	AP4S1	HP:0001763	Pes planus	HP:0040283	ORPHA:280763
11154	AP4S1	HP:0000448	Prominent nose	-	OMIM:614067
11154	AP4S1	HP:0000414	Bulbous nose	-	OMIM:614067
11154	AP4S1	HP:0000414	Bulbous nose	HP:0040282	ORPHA:280763
11154	AP4S1	HP:0001762	Talipes equinovarus	-	OMIM:614067
11154	AP4S1	HP:0000431	Wide nasal bridge	-	OMIM:614067
11155	LDB3	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
11155	LDB3	HP:0003736	Autophagic vacuoles	-	OMIM:609452
11155	LDB3	HP:0003715	Myofibrillar myopathy	-	OMIM:609452
11155	LDB3	HP:0001271	Polyneuropathy	-	OMIM:609452
11155	LDB3	HP:0001288	Gait disturbance	HP:0040284	ORPHA:98912
11155	LDB3	HP:0002505	Loss of ambulation	-	ORPHA:98912
11155	LDB3	HP:0031189	Wrist drop	HP:0040283	ORPHA:98912
11155	LDB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:601493
11155	LDB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:609452
11155	LDB3	HP:0033755	Increased left ventricular end-diastolic volume	10/13	OMIM:601493
11155	LDB3	HP:0002600	Hyporeflexia of lower limbs	-	OMIM:609452
11155	LDB3	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040284	ORPHA:98912
11155	LDB3	HP:0008969	Leg muscle stiffness	HP:0040283	ORPHA:98912
11155	LDB3	HP:0008954	Intrinsic hand muscle atrophy	HP:0040282	ORPHA:98912
11155	LDB3	HP:0003325	Limb-girdle muscle weakness	HP:0040284	ORPHA:98912
11155	LDB3	HP:0003323	Progressive muscle weakness	-	OMIM:609452
11155	LDB3	HP:0003324	Generalized muscle weakness	HP:0040284	ORPHA:98912
11155	LDB3	HP:0011808	Decreased patellar reflex	HP:0040284	ORPHA:98912
11155	LDB3	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
11155	LDB3	HP:0011713	Left bundle branch block	1/13	OMIM:601493
11155	LDB3	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
11155	LDB3	HP:0003458	EMG: myopathic abnormalities	-	OMIM:609452
11155	LDB3	HP:0003445	EMG: neuropathic changes	-	OMIM:609452
11155	LDB3	HP:0003584	Late onset	-	OMIM:609452
11155	LDB3	HP:0003581	Adult onset	-	OMIM:601493
11155	LDB3	HP:0003555	Muscle fiber splitting	-	OMIM:609452
11155	LDB3	HP:0009830	Peripheral neuropathy	HP:0040284	ORPHA:98912
11155	LDB3	HP:0009072	Decreased Achilles reflex	HP:0040284	ORPHA:98912
11155	LDB3	HP:0009073	Progressive proximal muscle weakness	HP:0040282	ORPHA:98912
11155	LDB3	HP:0009073	Progressive proximal muscle weakness	-	OMIM:609452
11155	LDB3	HP:0009077	Weakness of long finger extensor muscles	HP:0040283	ORPHA:98912
11155	LDB3	HP:0009063	Progressive distal muscle weakness	-	OMIM:609452
11155	LDB3	HP:0009027	Foot dorsiflexor weakness	HP:0040284	ORPHA:98912
11155	LDB3	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040283	ORPHA:98912
11155	LDB3	HP:0004308	Ventricular arrhythmia	HP:0040283	OMIM:601493
11155	LDB3	HP:0030682	Left ventricular noncompaction	HP:0040283	OMIM:601493
11155	LDB3	HP:0012722	Heart block	HP:0040284	ORPHA:98912
11155	LDB3	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
11155	LDB3	HP:0003198	Myopathy	HP:0040283	ORPHA:154
11155	LDB3	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:609452
11155	LDB3	HP:0000969	Edema	HP:0040282	ORPHA:154
11155	LDB3	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
11155	LDB3	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
11155	LDB3	HP:0031374	Ankle weakness	HP:0040283	ORPHA:98912
11155	LDB3	HP:0012378	Fatigue	HP:0040282	ORPHA:154
11155	LDB3	HP:0030198	Fatigable weakness of distal limb muscles	HP:0040282	ORPHA:98912
11155	LDB3	HP:0005162	Abnormal left ventricular function	HP:0040284	ORPHA:98912
11155	LDB3	HP:0001645	Sudden cardiac death	3/13	OMIM:601493
11155	LDB3	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
11155	LDB3	HP:0001644	Dilated cardiomyopathy	13/13	OMIM:601493
11155	LDB3	HP:0001626	Abnormality of the cardiovascular system	HP:0040283	ORPHA:98912
11155	LDB3	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
11155	LDB3	HP:0001635	Congestive heart failure	-	OMIM:601493
11155	LDB3	HP:0001638	Cardiomyopathy	-	OMIM:609452
11155	LDB3	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:98912
11155	LDB3	HP:0006685	Endocardial fibrosis	-	OMIM:601493
11155	LDB3	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
11155	LDB3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
11155	LDB3	HP:0001712	Left ventricular hypertrophy	8/13	OMIM:601493
11160	ERLIN2	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:247604
11160	ERLIN2	HP:0002460	Distal muscle weakness	HP:0040281	ORPHA:209951
11160	ERLIN2	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:247604
11160	ERLIN2	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:280384
11160	ERLIN2	HP:0001288	Gait disturbance	5/5	OMIM:620512
11160	ERLIN2	HP:0001288	Gait disturbance	-	OMIM:611225
11160	ERLIN2	HP:0001285	Spastic tetraparesis	HP:0040281	ORPHA:247604
11160	ERLIN2	HP:0001250	Seizure	HP:0040283	OMIM:611225
11160	ERLIN2	HP:0001250	Seizure	0/5	OMIM:620512
11160	ERLIN2	HP:0001250	Seizure	HP:0040283	ORPHA:209951
11160	ERLIN2	HP:0001249	Intellectual disability	11/11	OMIM:611225
11160	ERLIN2	HP:0001249	Intellectual disability	0/5	OMIM:620512
11160	ERLIN2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:209951
11160	ERLIN2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:209951
11160	ERLIN2	HP:0001258	Spastic paraplegia	-	OMIM:611225
11160	ERLIN2	HP:0001257	Spasticity	HP:0040281	ORPHA:247604
11160	ERLIN2	HP:0001257	Spasticity	HP:0040282	ORPHA:209951
11160	ERLIN2	HP:0007350	Upper limb hyperreflexia	HP:0040283	ORPHA:280384
11160	ERLIN2	HP:0007350	Upper limb hyperreflexia	HP:0040281	ORPHA:209951
11160	ERLIN2	HP:0007340	Lower limb muscle weakness	-	OMIM:611225
11160	ERLIN2	HP:0007340	Lower limb muscle weakness	5/5	OMIM:620512
11160	ERLIN2	HP:0002540	Inability to walk	11/11	OMIM:611225
11160	ERLIN2	HP:0002540	Inability to walk	HP:0040281	ORPHA:209951
11160	ERLIN2	HP:0002505	Loss of ambulation	2/5	OMIM:620512
11160	ERLIN2	HP:0001371	Flexion contracture	HP:0040281	ORPHA:209951
11160	ERLIN2	HP:0000020	Urinary incontinence	0/5	OMIM:620512
11160	ERLIN2	HP:0000014	Abnormality of the bladder	HP:0040283	ORPHA:247604
11160	ERLIN2	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:247604
11160	ERLIN2	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:209951
11160	ERLIN2	HP:0001347	Hyperreflexia	-	OMIM:611225
11160	ERLIN2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:247604
11160	ERLIN2	HP:0001344	Absent speech	HP:0040281	ORPHA:280384
11160	ERLIN2	HP:0001344	Absent speech	HP:0040282	ORPHA:209951
11160	ERLIN2	HP:0001344	Absent speech	11/11	OMIM:611225
11160	ERLIN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:611225
11160	ERLIN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:620512
11160	ERLIN2	HP:0002650	Scoliosis	-	OMIM:611225
11160	ERLIN2	HP:0002650	Scoliosis	1/5	OMIM:620512
11160	ERLIN2	HP:0000158	Macroglossia	HP:0040282	ORPHA:280384
11160	ERLIN2	HP:0000158	Macroglossia	HP:0040282	ORPHA:209951
11160	ERLIN2	HP:0000154	Wide mouth	HP:0040282	ORPHA:280384
11160	ERLIN2	HP:0000154	Wide mouth	HP:0040282	ORPHA:209951
11160	ERLIN2	HP:0005997	Neck joint contracture	HP:0040283	ORPHA:209951
11160	ERLIN2	HP:0002015	Dysphagia	HP:0040282	ORPHA:247604
11160	ERLIN2	HP:0002015	Dysphagia	HP:0040283	ORPHA:280384
11160	ERLIN2	HP:0002015	Dysphagia	HP:0040283	ORPHA:209951
11160	ERLIN2	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:209951
11160	ERLIN2	HP:0002064	Spastic gait	HP:0040281	ORPHA:247604
11160	ERLIN2	HP:0002061	Lower limb spasticity	-	OMIM:611225
11160	ERLIN2	HP:0002061	Lower limb spasticity	5/5	OMIM:620512
11160	ERLIN2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:209951
11160	ERLIN2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	OMIM:611225
11160	ERLIN2	HP:0002141	Gait imbalance	HP:0040281	ORPHA:247604
11160	ERLIN2	HP:0003487	Babinski sign	2/5	OMIM:620512
11160	ERLIN2	HP:0003487	Babinski sign	HP:0040282	ORPHA:209951
11160	ERLIN2	HP:0003487	Babinski sign	2/2	OMIM:611225
11160	ERLIN2	HP:0003484	Upper limb muscle weakness	0/5	OMIM:620512
11160	ERLIN2	HP:0002127	Abnormal upper motor neuron morphology	HP:0040281	ORPHA:247604
11160	ERLIN2	HP:0002193	Pseudobulbar affect	HP:0040281	ORPHA:247604
11160	ERLIN2	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040283	ORPHA:209951
11160	ERLIN2	HP:0033205	Biceps hyperreflexia	4/4	OMIM:611225
11160	ERLIN2	HP:0003401	Paresthesia	1/5	OMIM:620512
11160	ERLIN2	HP:0003593	Infantile onset	-	OMIM:611225
11160	ERLIN2	HP:0100712	Abnormal lumbar spine morphology	HP:0040283	ORPHA:209951
11160	ERLIN2	HP:0100712	Abnormal lumbar spine morphology	HP:0040283	ORPHA:280384
11160	ERLIN2	HP:0002378	Hand tremor	HP:0040283	ORPHA:280384
11160	ERLIN2	HP:0002378	Hand tremor	HP:0040283	ORPHA:209951
11160	ERLIN2	HP:0002376	Developmental regression	HP:0040281	ORPHA:280384
11160	ERLIN2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:280384
11160	ERLIN2	HP:0002371	Loss of speech	HP:0040282	ORPHA:247604
11160	ERLIN2	HP:0003676	Progressive	-	OMIM:611225
11160	ERLIN2	HP:0003677	Slowly progressive	-	OMIM:611225
11160	ERLIN2	HP:0003621	Juvenile onset	1/5	OMIM:620512
11160	ERLIN2	HP:0000664	Synophrys	HP:0040283	ORPHA:280384
11160	ERLIN2	HP:0000664	Synophrys	HP:0040283	ORPHA:209951
11160	ERLIN2	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:209951
11160	ERLIN2	HP:0006986	Upper limb spasticity	-	OMIM:611225
11160	ERLIN2	HP:0006986	Upper limb spasticity	0/5	OMIM:620512
11160	ERLIN2	HP:0031936	Delayed ability to walk	-	OMIM:611225
11160	ERLIN2	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:247604
11160	ERLIN2	HP:0011463	Childhood onset	-	OMIM:611225
11160	ERLIN2	HP:0011462	Young adult onset	4/5	OMIM:620512
11160	ERLIN2	HP:0011448	Ankle clonus	HP:0040283	ORPHA:280384
11160	ERLIN2	HP:0011448	Ankle clonus	HP:0040283	ORPHA:209951
11160	ERLIN2	HP:0011448	Ankle clonus	4/5	OMIM:620512
11160	ERLIN2	HP:0011448	Ankle clonus	2/4	OMIM:611225
11160	ERLIN2	HP:0003121	Limb joint contracture	HP:0040281	ORPHA:280384
11160	ERLIN2	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:247604
11160	ERLIN2	HP:0003202	Skeletal muscle atrophy	-	OMIM:611225
11160	ERLIN2	HP:0005830	Flexion contracture of toe	HP:0040283	ORPHA:209951
11160	ERLIN2	HP:0034392	Joint contracture	11/11	OMIM:611225
11160	ERLIN2	HP:0003273	Hip contracture	HP:0040283	ORPHA:209951
11160	ERLIN2	HP:0006466	Ankle flexion contracture	HP:0040282	ORPHA:280384
11160	ERLIN2	HP:0006466	Ankle flexion contracture	HP:0040281	ORPHA:209951
11160	ERLIN2	HP:0002808	Kyphosis	-	OMIM:611225
11160	ERLIN2	HP:0006380	Knee flexion contracture	HP:0040282	ORPHA:280384
11160	ERLIN2	HP:0006380	Knee flexion contracture	HP:0040281	ORPHA:209951
11160	ERLIN2	HP:0001583	Rotary nystagmus	HP:0040283	ORPHA:209951
11160	ERLIN2	HP:0000218	High palate	HP:0040283	ORPHA:280384
11160	ERLIN2	HP:0000218	High palate	-	OMIM:611225
11160	ERLIN2	HP:0000218	High palate	HP:0040283	ORPHA:209951
11160	ERLIN2	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:280384
11160	ERLIN2	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:209951
11160	ERLIN2	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:280384
11160	ERLIN2	HP:0002987	Elbow flexion contracture	HP:0040281	ORPHA:209951
11160	ERLIN2	HP:0000322	Short philtrum	HP:0040283	ORPHA:280384
11160	ERLIN2	HP:0000322	Short philtrum	HP:0040283	ORPHA:209951
11160	ERLIN2	HP:0000486	Strabismus	-	OMIM:611225
11160	ERLIN2	HP:0012453	Bilateral wrist flexion contracture	HP:0040281	ORPHA:209951
11160	ERLIN2	HP:0001760	Abnormal foot morphology	1/5	OMIM:620512
11160	ERLIN2	HP:0001761	Pes cavus	-	OMIM:611225
11160	ERLIN2	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:280384
11160	ERLIN2	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:209951
11178	LZTS1	HP:0001442	Typified by somatic mosaicism	-	OMIM:133239
11178	LZTS1	HP:0011459	Esophageal carcinoma	-	OMIM:133239
11181	TREH	HP:0000007	Autosomal recessive inheritance	-	OMIM:612119
11181	TREH	HP:0002024	Malabsorption	HP:0040283	ORPHA:103909
11181	TREH	HP:0002027	Abdominal pain	HP:0040283	ORPHA:103909
11181	TREH	HP:0002027	Abdominal pain	-	OMIM:612119
11181	TREH	HP:0002014	Diarrhea	HP:0040283	ORPHA:103909
11181	TREH	HP:0002014	Diarrhea	-	OMIM:612119
11181	TREH	HP:0002013	Vomiting	HP:0040283	ORPHA:103909
11181	TREH	HP:0003270	Abdominal distention	HP:0040283	ORPHA:103909
11181	TREH	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:103909
11190	CEP250	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
11190	CEP250	HP:0000007	Autosomal recessive inheritance	-	OMIM:618358
11190	CEP250	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
11190	CEP250	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
11190	CEP250	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
11190	CEP250	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
11190	CEP250	HP:0007663	Reduced visual acuity	2/2	OMIM:618358
11190	CEP250	HP:0003621	Juvenile onset	8/19	OMIM:180100
11190	CEP250	HP:0000613	Photophobia	1/2	OMIM:618358
11190	CEP250	HP:0000662	Nyctalopia	26/28	OMIM:180100
11190	CEP250	HP:0011463	Childhood onset	3/19	OMIM:180100
11190	CEP250	HP:0011462	Young adult onset	8/19	OMIM:180100
11190	CEP250	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
11190	CEP250	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
11190	CEP250	HP:0001757	High-frequency sensorineural hearing impairment	2/2	OMIM:618358
11190	CEP250	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
11190	CEP250	HP:0000575	Scotoma	5/18	OMIM:180100
11190	CEP250	HP:0000543	Optic disc pallor	1/1	OMIM:180100
11190	CEP250	HP:0000545	Myopia	-	OMIM:180100
11193	WBP4	HP:0010864	Intellectual disability, severe	3/4	OMIM:620852
11193	WBP4	HP:0008551	Microtia	1/9	OMIM:620852
11193	WBP4	HP:0001274	Agenesis of corpus callosum	2/8	OMIM:620852
11193	WBP4	HP:0001270	Motor delay	8/8	OMIM:620852
11193	WBP4	HP:0001250	Seizure	2/9	OMIM:620852
11193	WBP4	HP:0001252	Hypotonia	9/9	OMIM:620852
11193	WBP4	HP:0001249	Intellectual disability	1/1	OMIM:620852
11193	WBP4	HP:0001263	Global developmental delay	10/10	OMIM:620852
11193	WBP4	HP:0002536	Abnormal cortical gyration	2/8	OMIM:620852
11193	WBP4	HP:0000047	Hypospadias	1/3	OMIM:620852
11193	WBP4	HP:0001363	Craniosynostosis	1/3	OMIM:620852
11193	WBP4	HP:0000028	Cryptorchidism	1/3	OMIM:620852
11193	WBP4	HP:0001344	Absent speech	4/8	OMIM:620852
11193	WBP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:620852
11193	WBP4	HP:0000175	Cleft palate	1/9	OMIM:620852
11193	WBP4	HP:0000126	Hydronephrosis	1/10	OMIM:620852
11193	WBP4	HP:0002023	Anal atresia	1/10	OMIM:620852
11193	WBP4	HP:0002079	Hypoplasia of the corpus callosum	3/8	OMIM:620852
11193	WBP4	HP:0002119	Ventriculomegaly	2/9	OMIM:620852
11193	WBP4	HP:0003593	Infantile onset	1/1	OMIM:620852
11193	WBP4	HP:0002213	Fine hair	3/7	OMIM:620852
11193	WBP4	HP:0011968	Feeding difficulties	7/8	OMIM:620852
11193	WBP4	HP:0002342	Intellectual disability, moderate	1/4	OMIM:620852
11193	WBP4	HP:0010804	Tented upper lip vermilion	2/9	OMIM:620852
11193	WBP4	HP:0000678	Dental crowding	1/9	OMIM:620852
11193	WBP4	HP:0004325	Decreased body weight	2/2	OMIM:620852
11193	WBP4	HP:0004322	Short stature	4/6	OMIM:620852
11193	WBP4	HP:0006979	Sleep-wake cycle disturbance	4/5	OMIM:620852
11193	WBP4	HP:0000752	Hyperactivity	5/7	OMIM:620852
11193	WBP4	HP:0000733	Motor stereotypy	3/7	OMIM:620852
11193	WBP4	HP:0000750	Delayed speech and language development	4/4	OMIM:620852
11193	WBP4	HP:0000718	Aggressive behavior	1/7	OMIM:620852
11193	WBP4	HP:0000729	Autistic behavior	4/6	OMIM:620852
11193	WBP4	HP:0040080	Anteverted ears	1/9	OMIM:620852
11193	WBP4	HP:0000286	Epicanthus	2/8	OMIM:620852
11193	WBP4	HP:0000278	Retrognathia	2/6	OMIM:620852
11193	WBP4	HP:0000262	Turricephaly	1/3	OMIM:620852
11193	WBP4	HP:0000252	Microcephaly	1/7	OMIM:620852
11193	WBP4	HP:0000218	High palate	3/9	OMIM:620852
11193	WBP4	HP:0001562	Oligohydramnios	2/9	OMIM:620852
11193	WBP4	HP:0001561	Polyhydramnios	1/9	OMIM:620852
11193	WBP4	HP:0001518	Small for gestational age	2/8	OMIM:620852
11193	WBP4	HP:0031510	Linear earlobe crease	1/9	OMIM:620852
11193	WBP4	HP:0000369	Low-set ears	5/9	OMIM:620852
11193	WBP4	HP:0000341	Narrow forehead	1/3	OMIM:620852
11193	WBP4	HP:0000319	Smooth philtrum	1/9	OMIM:620852
11193	WBP4	HP:0000316	Hypertelorism	6/8	OMIM:620852
11193	WBP4	HP:0001643	Patent ductus arteriosus	1/8	OMIM:620852
11193	WBP4	HP:0000322	Short philtrum	3/9	OMIM:620852
11193	WBP4	HP:0001653	Mitral regurgitation	1/8	OMIM:620852
11193	WBP4	HP:0001629	Ventricular septal defect	1/8	OMIM:620852
11193	WBP4	HP:0001631	Atrial septal defect	1/8	OMIM:620852
11193	WBP4	HP:0006695	Atrioventricular canal defect	1/8	OMIM:620852
11193	WBP4	HP:0000407	Sensorineural hearing impairment	1/7	OMIM:620852
11193	WBP4	HP:0000402	Stenosis of the external auditory canal	1/9	OMIM:620852
11193	WBP4	HP:0005280	Depressed nasal bridge	4/7	OMIM:620852
11193	WBP4	HP:0000486	Strabismus	2/6	OMIM:620852
11193	WBP4	HP:0012471	Thick vermilion border	1/9	OMIM:620852
11193	WBP4	HP:0000494	Downslanted palpebral fissures	2/8	OMIM:620852
11193	WBP4	HP:0001763	Pes planus	1/4	OMIM:620852
11193	WBP4	HP:0001776	Bilateral talipes equinovarus	0/4	OMIM:620852
11193	WBP4	HP:0000411	Protruding ear	4/9	OMIM:620852
11193	WBP4	HP:0000426	Prominent nasal bridge	1/7	OMIM:620852
11193	WBP4	HP:0001852	Sandal gap	1/4	OMIM:620852
11193	WBP4	HP:0000520	Proptosis	2/6	OMIM:620852
11193	WBP4	HP:0000582	Upslanted palpebral fissure	2/8	OMIM:620852
11193	WBP4	HP:0011237	Broad inferior crus of antihelix	1/9	OMIM:620852
11198	SUPT16H	HP:0001182	Tapered finger	1/5	OMIM:619480
11198	SUPT16H	HP:0002414	Spina bifida	1/5	OMIM:619480
11198	SUPT16H	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:261229
11198	SUPT16H	HP:0001250	Seizure	HP:0040283	ORPHA:261229
11198	SUPT16H	HP:0001249	Intellectual disability	HP:0040282	ORPHA:261229
11198	SUPT16H	HP:0001249	Intellectual disability	5/5	OMIM:619480
11198	SUPT16H	HP:0002591	Polyphagia	HP:0040282	ORPHA:261229
11198	SUPT16H	HP:0001263	Global developmental delay	5/5	OMIM:619480
11198	SUPT16H	HP:0100890	Cyst of the ductus choledochus	1/5	OMIM:619480
11198	SUPT16H	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:261229
11198	SUPT16H	HP:0001350	Slurred speech	HP:0040283	ORPHA:261229
11198	SUPT16H	HP:0001357	Plagiocephaly	1/5	OMIM:619480
11198	SUPT16H	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:261229
11198	SUPT16H	HP:0033725	Thin corpus callosum	2/5	OMIM:619480
11198	SUPT16H	HP:0001344	Absent speech	3/5	OMIM:619480
11198	SUPT16H	HP:0001338	Partial agenesis of the corpus callosum	1/5	OMIM:619480
11198	SUPT16H	HP:0000006	Autosomal dominant inheritance	-	OMIM:619480
11198	SUPT16H	HP:0002650	Scoliosis	1/5	OMIM:619480
11198	SUPT16H	HP:0000193	Bifid uvula	1/5	OMIM:619480
11198	SUPT16H	HP:0000160	Narrow mouth	1/5	OMIM:619480
11198	SUPT16H	HP:0002020	Gastroesophageal reflux	1/5	OMIM:619480
11198	SUPT16H	HP:0002007	Frontal bossing	2/5	OMIM:619480
11198	SUPT16H	HP:0002144	Tethered cord	1/5	OMIM:619480
11198	SUPT16H	HP:0002194	Delayed gross motor development	5/5	OMIM:619480
11198	SUPT16H	HP:0002263	Exaggerated cupid's bow	HP:0040283	ORPHA:261229
11198	SUPT16H	HP:0002263	Exaggerated cupid's bow	1/5	OMIM:619480
11198	SUPT16H	HP:0003593	Infantile onset	1/5	OMIM:619480
11198	SUPT16H	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:261229
11198	SUPT16H	HP:0011971	Dermatographic urticaria	1/5	OMIM:619480
11198	SUPT16H	HP:0011968	Feeding difficulties	3/5	OMIM:619480
11198	SUPT16H	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:619480
11198	SUPT16H	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:261229
11198	SUPT16H	HP:0002360	Sleep abnormality	3/5	OMIM:619480
11198	SUPT16H	HP:0002349	Focal aware seizure	1/5	OMIM:619480
11198	SUPT16H	HP:0003623	Neonatal onset	4/5	OMIM:619480
11198	SUPT16H	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:261229
11198	SUPT16H	HP:0000750	Delayed speech and language development	5/5	OMIM:619480
11198	SUPT16H	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:261229
11198	SUPT16H	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:261229
11198	SUPT16H	HP:0000717	Autism	HP:0040283	ORPHA:261229
11198	SUPT16H	HP:0000729	Autistic behavior	2/4	OMIM:619480
11198	SUPT16H	HP:0012799	Unilateral facial palsy	1/5	OMIM:619480
11198	SUPT16H	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:261229
11198	SUPT16H	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:261229
11198	SUPT16H	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:261229
11198	SUPT16H	HP:0000286	Epicanthus	1/5	OMIM:619480
11198	SUPT16H	HP:0000286	Epicanthus	HP:0040283	ORPHA:261229
11198	SUPT16H	HP:0000268	Dolichocephaly	1/5	OMIM:619480
11198	SUPT16H	HP:0000252	Microcephaly	HP:0040282	ORPHA:261229
11198	SUPT16H	HP:0001513	Obesity	HP:0040282	ORPHA:261229
11198	SUPT16H	HP:0000378	Cupped ear	1/5	OMIM:619480
11198	SUPT16H	HP:0000391	Thickened helices	1/5	OMIM:619480
11198	SUPT16H	HP:0000358	Posteriorly rotated ears	1/5	OMIM:619480
11198	SUPT16H	HP:0000369	Low-set ears	1/5	OMIM:619480
11198	SUPT16H	HP:0001680	Coarctation of aorta	1/5	OMIM:619480
11198	SUPT16H	HP:0000348	High forehead	1/5	OMIM:619480
11198	SUPT16H	HP:0000347	Micrognathia	HP:0040283	ORPHA:261229
11198	SUPT16H	HP:0000316	Hypertelorism	2/5	OMIM:619480
11198	SUPT16H	HP:0000316	Hypertelorism	HP:0040283	ORPHA:261229
11198	SUPT16H	HP:0001643	Patent ductus arteriosus	1/5	OMIM:619480
11198	SUPT16H	HP:0006695	Atrioventricular canal defect	1/5	OMIM:619480
11198	SUPT16H	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:261229
11198	SUPT16H	HP:0000486	Strabismus	1/5	OMIM:619480
11198	SUPT16H	HP:0012471	Thick vermilion border	1/5	OMIM:619480
11198	SUPT16H	HP:0000494	Downslanted palpebral fissures	2/5	OMIM:619480
11198	SUPT16H	HP:0012450	Chronic constipation	2/5	OMIM:619480
11198	SUPT16H	HP:0000455	Broad nasal tip	1/5	OMIM:619480
11198	SUPT16H	HP:0000473	Torticollis	1/5	OMIM:619480
11198	SUPT16H	HP:0000431	Wide nasal bridge	2/5	OMIM:619480
11198	SUPT16H	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:261229
11200	CHEK2	HP:0001123	Visual field defect	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0009919	Retinoblastoma	-	OMIM:259500
11200	CHEK2	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0001276	Hypertonia	HP:0040282	ORPHA:440437
11200	CHEK2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0001250	Seizure	HP:0040282	ORPHA:440437
11200	CHEK2	HP:0001252	Hypotonia	HP:0040282	ORPHA:440437
11200	CHEK2	HP:0001260	Dysarthria	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0007378	Neoplasm of the gastrointestinal tract	HP:0040283	ORPHA:524
11200	CHEK2	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:440437
11200	CHEK2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0001386	Joint swelling	HP:0040282	ORPHA:668
11200	CHEK2	HP:0002664	Neoplasm	HP:0040281	ORPHA:524
11200	CHEK2	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0002669	Osteosarcoma	HP:0040283	ORPHA:524
11200	CHEK2	HP:0002669	Osteosarcoma	-	OMIM:259500
11200	CHEK2	HP:0002665	Lymphoma	HP:0040283	ORPHA:524
11200	CHEK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:609265
11200	CHEK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:176807
11200	CHEK2	HP:0012189	Hodgkin lymphoma	HP:0040284	ORPHA:524
11200	CHEK2	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:440437
11200	CHEK2	HP:0012174	Glioblastoma multiforme	HP:0040283	ORPHA:524
11200	CHEK2	HP:0012125	Prostate cancer	HP:0040283	ORPHA:145
11200	CHEK2	HP:0012125	Prostate cancer	-	OMIM:176807
11200	CHEK2	HP:0012125	Prostate cancer	HP:0040284	ORPHA:524
11200	CHEK2	HP:0012126	Stomach cancer	HP:0040284	ORPHA:440437
11200	CHEK2	HP:0012126	Stomach cancer	HP:0040283	ORPHA:524
11200	CHEK2	HP:0012126	Stomach cancer	-	OMIM:609265
11200	CHEK2	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:668
11200	CHEK2	HP:0002797	Osteolysis	HP:0040281	ORPHA:668
11200	CHEK2	HP:0012113	Abnormal circulating creatine concentration	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0002756	Pathologic fracture	HP:0040284	ORPHA:668
11200	CHEK2	HP:0001442	Typified by somatic mosaicism	-	OMIM:176807
11200	CHEK2	HP:0001442	Typified by somatic mosaicism	-	OMIM:259500
11200	CHEK2	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0002024	Malabsorption	HP:0040281	ORPHA:440437
11200	CHEK2	HP:0002019	Constipation	HP:0040281	ORPHA:440437
11200	CHEK2	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:440437
11200	CHEK2	HP:0002027	Abdominal pain	HP:0040281	ORPHA:440437
11200	CHEK2	HP:0100526	Neoplasm of the lung	HP:0040284	ORPHA:524
11200	CHEK2	HP:0002076	Migraine	HP:0040282	ORPHA:440437
11200	CHEK2	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0010526	Dysgraphia	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0003401	Paresthesia	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0009592	Astrocytoma	HP:0040283	ORPHA:524
11200	CHEK2	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:440437
11200	CHEK2	HP:0100768	Choriocarcinoma	HP:0040284	ORPHA:524
11200	CHEK2	HP:0009733	Glioma	-	OMIM:609265
11200	CHEK2	HP:0009726	Renal neoplasm	-	ORPHA:440437
11200	CHEK2	HP:0009726	Renal neoplasm	HP:0040284	ORPHA:524
11200	CHEK2	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:440437
11200	CHEK2	HP:0100743	Neoplasm of the rectum	HP:0040284	ORPHA:524
11200	CHEK2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:440437
11200	CHEK2	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:524
11200	CHEK2	HP:0002376	Developmental regression	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0002354	Memory impairment	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0100605	Neoplasm of the larynx	HP:0040284	ORPHA:524
11200	CHEK2	HP:0200063	Colorectal polyposis	HP:0040283	ORPHA:524
11200	CHEK2	HP:0100615	Ovarian neoplasm	HP:0040284	ORPHA:524
11200	CHEK2	HP:0100615	Ovarian neoplasm	HP:0040281	ORPHA:145
11200	CHEK2	HP:0100615	Ovarian neoplasm	-	ORPHA:440437
11200	CHEK2	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0010784	Uterine neoplasm	HP:0040284	ORPHA:440437
11200	CHEK2	HP:0010788	Testicular neoplasm	HP:0040284	ORPHA:524
11200	CHEK2	HP:0001945	Fever	HP:0040284	ORPHA:668
11200	CHEK2	HP:0001909	Leukemia	HP:0040283	ORPHA:524
11200	CHEK2	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:524
11200	CHEK2	HP:0003002	Breast carcinoma	-	OMIM:609265
11200	CHEK2	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:145
11200	CHEK2	HP:0003003	Colon cancer	HP:0040284	ORPHA:524
11200	CHEK2	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0100013	Neoplasm of the breast	-	ORPHA:440437
11200	CHEK2	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:524
11200	CHEK2	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0000738	Hallucinations	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0000737	Irritability	HP:0040282	ORPHA:440437
11200	CHEK2	HP:0000739	Anxiety	HP:0040282	ORPHA:440437
11200	CHEK2	HP:0000716	Depression	HP:0040282	ORPHA:440437
11200	CHEK2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:440437
11200	CHEK2	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:668
11200	CHEK2	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:668
11200	CHEK2	HP:0100273	Neoplasm of the colon	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0100242	Sarcoma	-	OMIM:609265
11200	CHEK2	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:668
11200	CHEK2	HP:0012288	Neoplasm of head and neck	HP:0040284	ORPHA:524
11200	CHEK2	HP:0030070	Central primitive neuroectodermal tumor	HP:0040283	ORPHA:524
11200	CHEK2	HP:0002894	Neoplasm of the pancreas	HP:0040284	ORPHA:524
11200	CHEK2	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:145
11200	CHEK2	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0002890	Thyroid carcinoma	HP:0040284	ORPHA:524
11200	CHEK2	HP:0002888	Ependymoma	HP:0040283	ORPHA:524
11200	CHEK2	HP:0002885	Medulloblastoma	HP:0040284	ORPHA:524
11200	CHEK2	HP:0002861	Melanoma	HP:0040284	ORPHA:524
11200	CHEK2	HP:0002861	Melanoma	HP:0040283	ORPHA:145
11200	CHEK2	HP:0002858	Meningioma	-	OMIM:609265
11200	CHEK2	HP:0002859	Rhabdomyosarcoma	HP:0040283	ORPHA:524
11200	CHEK2	HP:0002863	Myelodysplasia	HP:0040284	ORPHA:524
11200	CHEK2	HP:0012378	Fatigue	HP:0040281	ORPHA:440437
11200	CHEK2	HP:0011027	Abnormal fallopian tube morphology	HP:0040281	ORPHA:145
11200	CHEK2	HP:0006491	Abnormal tibial metaphysis morphology	HP:0040282	ORPHA:668
11200	CHEK2	HP:0006489	Abnormal femoral metaphysis morphology	HP:0040281	ORPHA:668
11200	CHEK2	HP:0006744	Adrenocortical carcinoma	HP:0040283	ORPHA:524
11200	CHEK2	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0030406	Primary peritoneal carcinoma	HP:0040281	ORPHA:145
11200	CHEK2	HP:0006721	Acute lymphoblastic leukemia	HP:0040284	ORPHA:524
11200	CHEK2	HP:0001824	Weight loss	HP:0040281	ORPHA:440437
11200	CHEK2	HP:0001824	Weight loss	HP:0040284	ORPHA:668
11200	CHEK2	HP:0000505	Visual impairment	HP:0040283	ORPHA:440437
11200	CHEK2	HP:0012539	Non-Hodgkin lymphoma	HP:0040284	ORPHA:524
11200	CHEK2	HP:0030392	Choroid plexus carcinoma	HP:0040283	ORPHA:524
11200	CHEK2	HP:0012531	Pain	HP:0040282	ORPHA:668
11212	PLPBP	HP:0025116	Fetal distress	4/7	OMIM:617290
11212	PLPBP	HP:0025116	Fetal distress	HP:0040282	ORPHA:3006
11212	PLPBP	HP:0002465	Poor speech	-	OMIM:617290
11212	PLPBP	HP:0020221	Clonic seizure	1/7	OMIM:617290
11212	PLPBP	HP:0020217	Focal aware motor seizure	HP:0040282	ORPHA:3006
11212	PLPBP	HP:0010851	EEG with burst suppression	5/7	OMIM:617290
11212	PLPBP	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:3006
11212	PLPBP	HP:0001276	Hypertonia	3/7	OMIM:617290
11212	PLPBP	HP:0001270	Motor delay	4/6	OMIM:617290
11212	PLPBP	HP:0001250	Seizure	HP:0040280	ORPHA:3006
11212	PLPBP	HP:0001252	Hypotonia	1/7	OMIM:617290
11212	PLPBP	HP:0001249	Intellectual disability	-	OMIM:617290
11212	PLPBP	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3006
11212	PLPBP	HP:0001263	Global developmental delay	7/7	OMIM:617290
11212	PLPBP	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:3006
11212	PLPBP	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:3006
11212	PLPBP	HP:0000007	Autosomal recessive inheritance	-	OMIM:617290
11212	PLPBP	HP:0001336	Myoclonus	3/7	OMIM:617290
11212	PLPBP	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:3006
11212	PLPBP	HP:0030917	Low APGAR score	HP:0040282	ORPHA:3006
11212	PLPBP	HP:0002093	Respiratory insufficiency	3/7	OMIM:617290
11212	PLPBP	HP:0002069	Bilateral tonic-clonic seizure	5/7	OMIM:617290
11212	PLPBP	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:3006
11212	PLPBP	HP:0002151	Increased circulating lactate concentration	4/6	OMIM:617290
11212	PLPBP	HP:0002119	Ventriculomegaly	-	OMIM:617290
11212	PLPBP	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:3006
11212	PLPBP	HP:0002133	Status epilepticus	HP:0040282	ORPHA:3006
11212	PLPBP	HP:0002104	Apnea	1/7	OMIM:617290
11212	PLPBP	HP:0002188	Delayed CNS myelination	HP:0040283	ORPHA:3006
11212	PLPBP	HP:0003593	Infantile onset	1/7	OMIM:617290
11212	PLPBP	HP:0002280	Enlarged cisterna magna	HP:0040283	ORPHA:3006
11212	PLPBP	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:3006
11212	PLPBP	HP:0020045	Esodeviation	1/4	OMIM:617290
11212	PLPBP	HP:0010841	Multifocal epileptiform discharges	HP:0040283	ORPHA:3006
11212	PLPBP	HP:0010845	EEG with generalized slow activity	HP:0040282	ORPHA:3006
11212	PLPBP	HP:0010819	Atonic seizure	HP:0040283	ORPHA:3006
11212	PLPBP	HP:0003623	Neonatal onset	6/7	OMIM:617290
11212	PLPBP	HP:0001943	Hypoglycemia	HP:0040284	ORPHA:3006
11212	PLPBP	HP:0001942	Metabolic acidosis	5/7	OMIM:617290
11212	PLPBP	HP:0000629	Periorbital fullness	1/4	OMIM:617290
11212	PLPBP	HP:0000737	Irritability	HP:0040282	ORPHA:3006
11212	PLPBP	HP:0000737	Irritability	3/4	OMIM:617290
11212	PLPBP	HP:0000750	Delayed speech and language development	5/6	OMIM:617290
11212	PLPBP	HP:0012704	Widened subarachnoid space	HP:0040283	ORPHA:3006
11212	PLPBP	HP:0000711	Restlessness	HP:0040283	ORPHA:3006
11212	PLPBP	HP:0012768	Neonatal asphyxia	HP:0040283	ORPHA:3006
11212	PLPBP	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:3006
11212	PLPBP	HP:0003128	Lactic acidosis	HP:0040284	ORPHA:3006
11212	PLPBP	HP:0000273	Facial grimacing	HP:0040283	ORPHA:3006
11212	PLPBP	HP:0000219	Thin upper lip vermilion	2/4	OMIM:617290
11212	PLPBP	HP:0001557	Prenatal movement abnormality	HP:0040282	ORPHA:3006
11212	PLPBP	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:3006
11212	PLPBP	HP:0000343	Long philtrum	1/4	OMIM:617290
11212	PLPBP	HP:0032792	Tonic seizure	4/4	OMIM:617290
11212	PLPBP	HP:0032794	Myoclonic seizure	3/7	OMIM:617290
11212	PLPBP	HP:0011199	EEG with generalized sharp slow waves	HP:0040283	ORPHA:3006
11212	PLPBP	HP:0011198	EEG with generalized epileptiform discharges	HP:0040283	ORPHA:3006
11212	PLPBP	HP:0011166	Focal myoclonic seizure	HP:0040283	ORPHA:3006
11212	PLPBP	HP:0011152	Early onset absence seizures	HP:0040282	ORPHA:3006
11212	PLPBP	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:3006
11212	PLPBP	HP:0012444	Brain atrophy	HP:0040283	ORPHA:3006
11212	PLPBP	HP:0012444	Brain atrophy	1/7	OMIM:617290
11212	PLPBP	HP:0012420	Meconium stained amniotic fluid	HP:0040283	ORPHA:3006
11212	PLPBP	HP:0005484	Secondary microcephaly	6/7	OMIM:617290
11212	PLPBP	HP:0000582	Upslanted palpebral fissure	1/4	OMIM:617290
11222	MRPL3	HP:0001263	Global developmental delay	1/1	OMIM:614582
11222	MRPL3	HP:0003819	Death in childhood	2/4	OMIM:614582
11222	MRPL3	HP:0001397	Hepatic steatosis	1/1	OMIM:614582
11222	MRPL3	HP:0000007	Autosomal recessive inheritance	-	OMIM:614582
11222	MRPL3	HP:0003348	Hyperalaninemia	2/4	OMIM:614582
11222	MRPL3	HP:0002094	Dyspnea	1/4	OMIM:614582
11222	MRPL3	HP:0030948	Elevated gamma-glutamyltransferase level	3/5	OMIM:614582
11222	MRPL3	HP:0002151	Increased circulating lactate concentration	4/4	OMIM:614582
11222	MRPL3	HP:0003593	Infantile onset	4/4	OMIM:614582
11222	MRPL3	HP:0002240	Hepatomegaly	3/4	OMIM:614582
11222	MRPL3	HP:0011968	Feeding difficulties	3/4	OMIM:614582
11222	MRPL3	HP:0003623	Neonatal onset	1/1	OMIM:614582
11222	MRPL3	HP:0001970	Tubulointerstitial nephritis	1/1	OMIM:614582
11222	MRPL3	HP:0001942	Metabolic acidosis	1/1	OMIM:614582
11222	MRPL3	HP:0001993	Ketoacidosis	1/1	OMIM:614582
11222	MRPL3	HP:0031956	Elevated circulating aspartate aminotransferase concentration	4/5	OMIM:614582
11222	MRPL3	HP:0031962	Elevated serum anion gap	1/1	OMIM:614582
11222	MRPL3	HP:0031964	Elevated circulating alanine aminotransferase concentration	4/5	OMIM:614582
11222	MRPL3	HP:0032653	Elevated lactate:pyruvate ratio	1/1	OMIM:614582
11222	MRPL3	HP:0001508	Failure to thrive	3/4	OMIM:614582
11222	MRPL3	HP:0001655	Patent foramen ovale	1/1	OMIM:614582
11222	MRPL3	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:614582
11224	RPL35	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
11224	RPL35	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
11224	RPL35	HP:0008551	Microtia	HP:0040284	ORPHA:124
11224	RPL35	HP:0001254	Lethargy	HP:0040282	ORPHA:124
11224	RPL35	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
11224	RPL35	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
11224	RPL35	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
11224	RPL35	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
11224	RPL35	HP:0000006	Autosomal dominant inheritance	-	OMIM:618312
11224	RPL35	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
11224	RPL35	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
11224	RPL35	HP:0012133	Erythroid hypoplasia	2/2	OMIM:618312
11224	RPL35	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
11224	RPL35	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
11224	RPL35	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
11224	RPL35	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
11224	RPL35	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
11224	RPL35	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
11224	RPL35	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
11224	RPL35	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
11224	RPL35	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
11224	RPL35	HP:0009778	Short thumb	HP:0040283	ORPHA:124
11224	RPL35	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
11224	RPL35	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
11224	RPL35	HP:0001903	Anemia	2/2	OMIM:618312
11224	RPL35	HP:0004322	Short stature	HP:0040283	ORPHA:124
11224	RPL35	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
11224	RPL35	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
11224	RPL35	HP:0033074	Steroid-responsive anemia	1/2	OMIM:618312
11224	RPL35	HP:0000980	Pallor	HP:0040282	ORPHA:124
11224	RPL35	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
11224	RPL35	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
11224	RPL35	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
11224	RPL35	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
11224	RPL35	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
11224	RPL35	HP:0000218	High palate	HP:0040283	ORPHA:124
11224	RPL35	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
11224	RPL35	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
11224	RPL35	HP:0001510	Growth delay	HP:0040282	ORPHA:124
11224	RPL35	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
11224	RPL35	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
11224	RPL35	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
11224	RPL35	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
11224	RPL35	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
11224	RPL35	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
11224	RPL35	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
11224	RPL35	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
11224	RPL35	HP:0000486	Strabismus	HP:0040284	ORPHA:124
11224	RPL35	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
11224	RPL35	HP:0000470	Short neck	HP:0040283	ORPHA:124
11224	RPL35	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
11224	RPL35	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
11224	RPL35	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
11224	RPL35	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
11224	RPL35	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
11224	RPL35	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
11224	RPL35	HP:0000508	Ptosis	HP:0040284	ORPHA:124
11224	RPL35	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
11224	RPL35	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
11224	RPL35	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
11224	RPL35	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
11224	RPL35	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
11224	RPL35	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
11231	SEC63	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:2924
11231	SEC63	HP:0000006	Autosomal dominant inheritance	-	OMIM:617004
11231	SEC63	HP:0002617	Vascular dilatation	HP:0040283	ORPHA:2924
11231	SEC63	HP:0033842	Early satiety	HP:0040282	ORPHA:2924
11231	SEC63	HP:0001407	Hepatic cysts	-	OMIM:617004
11231	SEC63	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:2924
11231	SEC63	HP:0002027	Abdominal pain	HP:0040283	ORPHA:2924
11231	SEC63	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:2924
11231	SEC63	HP:0002094	Dyspnea	HP:0040283	ORPHA:2924
11231	SEC63	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:2924
11231	SEC63	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040283	ORPHA:2924
11231	SEC63	HP:0003418	Back pain	HP:0040283	ORPHA:2924
11231	SEC63	HP:0003573	Increased total bilirubin	HP:0040283	ORPHA:2924
11231	SEC63	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2924
11231	SEC63	HP:0002240	Hepatomegaly	-	OMIM:617004
11231	SEC63	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:2924
11231	SEC63	HP:0003581	Adult onset	-	OMIM:617004
11231	SEC63	HP:0010741	Pedal edema	HP:0040283	ORPHA:2924
11231	SEC63	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:2924
11231	SEC63	HP:0005562	Multiple renal cysts	HP:0040282	ORPHA:2924
11231	SEC63	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040283	ORPHA:2924
11231	SEC63	HP:0003270	Abdominal distention	HP:0040281	ORPHA:2924
11231	SEC63	HP:0000952	Jaundice	HP:0040283	ORPHA:2924
11231	SEC63	HP:0006557	Polycystic liver disease	HP:0040281	ORPHA:2924
11231	SEC63	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:2924
11231	SEC63	HP:0001732	Abnormality of the pancreas	HP:0040283	ORPHA:2924
11232	POLG2	HP:0007302	Bipolar affective disorder	HP:0040284	ORPHA:254892
11232	POLG2	HP:0003731	Quadriceps muscle weakness	HP:0040282	ORPHA:254892
11232	POLG2	HP:0003737	Mitochondrial myopathy	HP:0040282	ORPHA:254892
11232	POLG2	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:254892
11232	POLG2	HP:0001290	Generalized hypotonia	HP:0040283	OMIM:610131
11232	POLG2	HP:0001276	Hypertonia	HP:0040284	ORPHA:254892
11232	POLG2	HP:0001272	Cerebellar atrophy	1/1	OMIM:619425
11232	POLG2	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:254892
11232	POLG2	HP:0001272	Cerebellar atrophy	HP:0040283	OMIM:610131
11232	POLG2	HP:0001288	Gait disturbance	1/1	OMIM:619425
11232	POLG2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:254892
11232	POLG2	HP:0001254	Lethargy	HP:0040283	ORPHA:254892
11232	POLG2	HP:0001250	Seizure	HP:0040284	ORPHA:254892
11232	POLG2	HP:0001250	Seizure	HP:0040283	OMIM:610131
11232	POLG2	HP:0001252	Hypotonia	HP:0040283	OMIM:610131
11232	POLG2	HP:0001251	Ataxia	1/1	OMIM:619425
11232	POLG2	HP:0001251	Ataxia	HP:0040283	ORPHA:254892
11232	POLG2	HP:0002578	Gastroparesis	HP:0040283	ORPHA:254892
11232	POLG2	HP:0002578	Gastroparesis	HP:0040283	OMIM:610131
11232	POLG2	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:254892
11232	POLG2	HP:0001260	Dysarthria	HP:0040283	ORPHA:254892
11232	POLG2	HP:0001263	Global developmental delay	HP:0040283	OMIM:610131
11232	POLG2	HP:0001396	Cholestasis	1/1	OMIM:618528
11232	POLG2	HP:0001392	Abnormality of the liver	HP:0040284	ORPHA:254892
11232	POLG2	HP:0001392	Abnormality of the liver	HP:0040283	OMIM:610131
11232	POLG2	HP:0001349	Facial diplegia	HP:0040283	ORPHA:254892
11232	POLG2	HP:0000017	Nocturia	HP:0040284	ORPHA:254892
11232	POLG2	HP:0033725	Thin corpus callosum	1/1	OMIM:618528
11232	POLG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619425
11232	POLG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618528
11232	POLG2	HP:0001337	Tremor	HP:0040283	ORPHA:254892
11232	POLG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:610131
11232	POLG2	HP:0000141	Amenorrhea	1/1	OMIM:619425
11232	POLG2	HP:0012108	Open angle glaucoma	1/1	OMIM:619425
11232	POLG2	HP:0012103	Abnormality of the mitochondrion	HP:0040282	ORPHA:254892
11232	POLG2	HP:0001414	Microvesicular hepatic steatosis	1/1	OMIM:618528
11232	POLG2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:254892
11232	POLG2	HP:0002020	Gastroesophageal reflux	HP:0040283	OMIM:610131
11232	POLG2	HP:0002019	Constipation	HP:0040283	OMIM:610131
11232	POLG2	HP:0002019	Constipation	HP:0040283	ORPHA:254892
11232	POLG2	HP:0003326	Myalgia	1/1	OMIM:610131
11232	POLG2	HP:0003326	Myalgia	HP:0040283	ORPHA:254892
11232	POLG2	HP:0002015	Dysphagia	HP:0040283	ORPHA:254892
11232	POLG2	HP:0003323	Progressive muscle weakness	-	OMIM:610131
11232	POLG2	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:254892
11232	POLG2	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:254892
11232	POLG2	HP:0002067	Bradykinesia	HP:0040282	ORPHA:254892
11232	POLG2	HP:0002066	Gait ataxia	HP:0040283	ORPHA:254892
11232	POLG2	HP:0003394	Muscle spasm	HP:0040284	ORPHA:254892
11232	POLG2	HP:0002063	Rigidity	HP:0040283	ORPHA:254892
11232	POLG2	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:618528
11232	POLG2	HP:0002076	Migraine	HP:0040284	ORPHA:254892
11232	POLG2	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:254892
11232	POLG2	HP:0003388	Easy fatigability	HP:0040283	ORPHA:254892
11232	POLG2	HP:0011713	Left bundle branch block	1/1	OMIM:610131
11232	POLG2	HP:0040270	Impaired glucose tolerance	1/1	OMIM:610131
11232	POLG2	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:254892
11232	POLG2	HP:0003477	Peripheral axonal neuropathy	1/1	OMIM:619425
11232	POLG2	HP:0002153	Hyperkalemia	1/1	OMIM:618528
11232	POLG2	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:618528
11232	POLG2	HP:0002151	Increased circulating lactate concentration	-	OMIM:610131
11232	POLG2	HP:0002151	Increased circulating lactate concentration	HP:0040283	ORPHA:254892
11232	POLG2	HP:0002120	Cerebral cortical atrophy	1/1	OMIM:619425
11232	POLG2	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:254892
11232	POLG2	HP:0003438	Absent Achilles reflex	HP:0040284	ORPHA:254892
11232	POLG2	HP:0008209	Premature ovarian insufficiency	1/1	OMIM:619425
11232	POLG2	HP:0003593	Infantile onset	1/1	OMIM:618528
11232	POLG2	HP:0003573	Increased total bilirubin	1/1	OMIM:618528
11232	POLG2	HP:0002240	Hepatomegaly	1/1	OMIM:618528
11232	POLG2	HP:0100704	Cerebral visual impairment	HP:0040284	ORPHA:254892
11232	POLG2	HP:0100704	Cerebral visual impairment	HP:0040283	OMIM:610131
11232	POLG2	HP:0003581	Adult onset	-	OMIM:610131
11232	POLG2	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:254892
11232	POLG2	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:254892
11232	POLG2	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:254892
11232	POLG2	HP:0003546	Exercise intolerance	1/1	OMIM:610131
11232	POLG2	HP:0007042	Focal white matter lesions	HP:0040283	ORPHA:254892
11232	POLG2	HP:0010628	Facial palsy	HP:0040282	ORPHA:254892
11232	POLG2	HP:0010628	Facial palsy	-	OMIM:610131
11232	POLG2	HP:0002396	Cogwheel rigidity	HP:0040283	ORPHA:254892
11232	POLG2	HP:0003690	Limb muscle weakness	HP:0040282	ORPHA:254892
11232	POLG2	HP:0003690	Limb muscle weakness	-	OMIM:610131
11232	POLG2	HP:0002359	Frequent falls	HP:0040283	ORPHA:254892
11232	POLG2	HP:0003688	Cytochrome C oxidase-negative muscle fibers	HP:0040282	ORPHA:254892
11232	POLG2	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1/1	OMIM:610131
11232	POLG2	HP:0003689	Multiple mitochondrial DNA deletions	1/1	OMIM:610131
11232	POLG2	HP:0002375	Hypokinesia	HP:0040283	ORPHA:254892
11232	POLG2	HP:0003676	Progressive	-	OMIM:610131
11232	POLG2	HP:0002322	Resting tremor	HP:0040282	ORPHA:254892
11232	POLG2	HP:0002315	Headache	1/1	OMIM:619425
11232	POLG2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:254892
11232	POLG2	HP:0001962	Palpitations	HP:0040284	ORPHA:254892
11232	POLG2	HP:0000648	Optic atrophy	1/1	OMIM:619425
11232	POLG2	HP:0001946	Ketosis	HP:0040284	ORPHA:254892
11232	POLG2	HP:0001942	Metabolic acidosis	1/1	OMIM:618528
11232	POLG2	HP:0001952	Glucose intolerance	HP:0040283	ORPHA:254892
11232	POLG2	HP:0001952	Glucose intolerance	-	OMIM:610131
11232	POLG2	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:254892
11232	POLG2	HP:0012664	Reduced left ventricular ejection fraction	HP:0040283	ORPHA:254892
11232	POLG2	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:618528
11232	POLG2	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:618528
11232	POLG2	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:254892
11232	POLG2	HP:0003073	Hypoalbuminemia	1/1	OMIM:618528
11232	POLG2	HP:0000739	Anxiety	1/1	OMIM:619425
11232	POLG2	HP:0000739	Anxiety	HP:0040283	ORPHA:254892
11232	POLG2	HP:0000716	Depression	1/1	OMIM:619425
11232	POLG2	HP:0000716	Depression	HP:0040283	ORPHA:254892
11232	POLG2	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1/1	OMIM:618528
11232	POLG2	HP:0004448	Fulminant hepatic failure	1/1	OMIM:618528
11232	POLG2	HP:0003198	Myopathy	HP:0040282	ORPHA:254892
11232	POLG2	HP:0000853	Goiter	HP:0040284	ORPHA:254892
11232	POLG2	HP:0000836	Hyperthyroidism	HP:0040284	ORPHA:254892
11232	POLG2	HP:0000819	Diabetes mellitus	HP:0040284	ORPHA:254892
11232	POLG2	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:254892
11232	POLG2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:254892
11232	POLG2	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:610131
11232	POLG2	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:254892
11232	POLG2	HP:0003270	Abdominal distention	1/1	OMIM:618528
11232	POLG2	HP:0034306	Ventricular bigeminy	1/1	OMIM:610131
11232	POLG2	HP:0000952	Jaundice	1/1	OMIM:618528
11232	POLG2	HP:0000969	Edema	HP:0040284	ORPHA:254892
11232	POLG2	HP:0000939	Osteoporosis	HP:0040284	ORPHA:254892
11232	POLG2	HP:0011675	Arrhythmia	-	OMIM:610131
11232	POLG2	HP:0011675	Arrhythmia	HP:0040283	ORPHA:254892
11232	POLG2	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:254892
11232	POLG2	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:254892
11232	POLG2	HP:0001508	Failure to thrive	HP:0040283	ORPHA:254892
11232	POLG2	HP:0001508	Failure to thrive	HP:0040283	OMIM:610131
11232	POLG2	HP:0012378	Fatigue	HP:0040282	ORPHA:254892
11232	POLG2	HP:0006581	Depletion of mitochondrial DNA in liver	1/1	OMIM:618528
11232	POLG2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	OMIM:610131
11232	POLG2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040284	ORPHA:254892
11232	POLG2	HP:0002908	Conjugated hyperbilirubinemia	1/1	OMIM:618528
11232	POLG2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:254892
11232	POLG2	HP:0000338	Hypomimic face	HP:0040282	ORPHA:254892
11232	POLG2	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:254892
11232	POLG2	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:254892
11232	POLG2	HP:0005280	Depressed nasal bridge	1/1	OMIM:618528
11232	POLG2	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:254892
11232	POLG2	HP:0000463	Anteverted nares	1/1	OMIM:618528
11232	POLG2	HP:0025710	Late young adult onset	1/1	OMIM:610131
11232	POLG2	HP:0000518	Cataract	HP:0040283	ORPHA:254892
11232	POLG2	HP:0000508	Ptosis	HP:0040281	ORPHA:254892
11232	POLG2	HP:0000508	Ptosis	-	OMIM:610131
11232	POLG2	HP:0000505	Visual impairment	HP:0040283	ORPHA:254892
11232	POLG2	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:254892
11232	POLG2	HP:0000590	Progressive external ophthalmoplegia	-	OMIM:610131
11232	POLG2	HP:0000572	Visual loss	1/1	OMIM:619425
11232	POLG2	HP:0000544	External ophthalmoplegia	HP:0040281	ORPHA:254892
11234	HPS5	HP:0001107	Ocular albinism	1/1	OMIM:614074
11234	HPS5	HP:0000007	Autosomal recessive inheritance	-	OMIM:614074
11234	HPS5	HP:0007663	Reduced visual acuity	4/4	OMIM:614074
11234	HPS5	HP:0000132	Menorrhagia	1/3	OMIM:614074
11234	HPS5	HP:0033263	Absent platelet dense granules	3/3	OMIM:614074
11234	HPS5	HP:0003593	Infantile onset	2/4	OMIM:614074
11234	HPS5	HP:0004866	Impaired ADP-induced platelet aggregation	1/1	OMIM:614074
11234	HPS5	HP:0001022	Albinism	4/4	OMIM:614074
11234	HPS5	HP:0100608	Metrorrhagia	1/3	OMIM:614074
11234	HPS5	HP:0003623	Neonatal onset	1/4	OMIM:614074
11234	HPS5	HP:0003621	Juvenile onset	1/4	OMIM:614074
11234	HPS5	HP:0000639	Nystagmus	2/4	OMIM:614074
11234	HPS5	HP:0000666	Horizontal nystagmus	-	OMIM:614074
11234	HPS5	HP:0003010	Prolonged bleeding time	1/1	OMIM:614074
11234	HPS5	HP:0012805	Iris transillumination defect	4/4	OMIM:614074
11234	HPS5	HP:0000978	Bruising susceptibility	4/4	OMIM:614074
11234	HPS5	HP:0007750	Hypoplasia of the fovea	-	OMIM:614074
11234	HPS5	HP:0000486	Strabismus	1/4	OMIM:614074
11234	HPS5	HP:0000421	Epistaxis	2/4	OMIM:614074
11234	HPS5	HP:0001873	Thrombocytopenia	0/4	OMIM:614074
11235	PDCD10	HP:0033522	Cerebral cavernous malformation	HP:0040280	ORPHA:221061
11235	PDCD10	HP:0033522	Cerebral cavernous malformation	-	OMIM:116860
11235	PDCD10	HP:0033522	Cerebral cavernous malformation	-	OMIM:603285
11235	PDCD10	HP:0001250	Seizure	10/28	OMIM:603285
11235	PDCD10	HP:0001250	Seizure	HP:0040281	ORPHA:221061
11235	PDCD10	HP:0001250	Seizure	-	OMIM:116860
11235	PDCD10	HP:0002572	Episodic vomiting	HP:0040283	ORPHA:221061
11235	PDCD10	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:221061
11235	PDCD10	HP:0002514	Cerebral calcification	-	OMIM:116860
11235	PDCD10	HP:0003829	Typified by incomplete penetrance	-	OMIM:116860
11235	PDCD10	HP:0001324	Muscle weakness	HP:0040282	ORPHA:221061
11235	PDCD10	HP:0001342	Cerebral hemorrhage	15/28	OMIM:603285
11235	PDCD10	HP:0001342	Cerebral hemorrhage	HP:0040281	ORPHA:221061
11235	PDCD10	HP:0000006	Autosomal dominant inheritance	-	OMIM:603285
11235	PDCD10	HP:0000006	Autosomal dominant inheritance	-	OMIM:116860
11235	PDCD10	HP:0033748	Hypoesthesia	HP:0040282	ORPHA:221061
11235	PDCD10	HP:0002650	Scoliosis	HP:0040282	ORPHA:221061
11235	PDCD10	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:221061
11235	PDCD10	HP:0100561	Spinal cord lesion	HP:0040283	ORPHA:221061
11235	PDCD10	HP:0003470	Paralysis	HP:0040282	OMIM:603285
11235	PDCD10	HP:0002170	Intracranial hemorrhage	-	OMIM:116860
11235	PDCD10	HP:0009588	Vestibular schwannoma	HP:0040284	ORPHA:221061
11235	PDCD10	HP:0010512	Adrenal calcification	HP:0040284	ORPHA:221061
11235	PDCD10	HP:0003401	Paresthesia	HP:0040282	ORPHA:221061
11235	PDCD10	HP:0009592	Astrocytoma	HP:0040284	ORPHA:221061
11235	PDCD10	HP:0001048	Cavernous hemangioma	HP:0040282	ORPHA:221061
11235	PDCD10	HP:0001028	Hemangioma	HP:0040282	ORPHA:221061
11235	PDCD10	HP:0002315	Headache	HP:0040281	ORPHA:221061
11235	PDCD10	HP:0002315	Headache	-	OMIM:116860
11235	PDCD10	HP:0002315	Headache	HP:0040282	OMIM:603285
11235	PDCD10	HP:0003621	Juvenile onset	-	OMIM:603285
11235	PDCD10	HP:0003011	Abnormality of the musculature	-	OMIM:116860
11235	PDCD10	HP:0012749	Focal T2 hypointense brainstem lesion	HP:0040282	ORPHA:221061
11235	PDCD10	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040282	ORPHA:221061
11235	PDCD10	HP:0012721	Venous malformation	HP:0040283	ORPHA:221061
11235	PDCD10	HP:0011513	Retinal cavernous hemangioma	HP:0040283	ORPHA:221061
11235	PDCD10	HP:0000951	Abnormality of the skin	-	OMIM:116860
11235	PDCD10	HP:0007797	Retinal vascular malformation	-	OMIM:116860
11235	PDCD10	HP:0002858	Meningioma	HP:0040284	ORPHA:221061
11235	PDCD10	HP:0006576	Hepatic vascular malformations	-	OMIM:116860
11235	PDCD10	HP:0007872	Choroidal hemangioma	HP:0040283	ORPHA:221061
11235	PDCD10	HP:0030430	Neuroma	HP:0040282	ORPHA:221061
11235	PDCD10	HP:0011276	Vascular skin abnormality	HP:0040283	ORPHA:221061
11236	RNF139	HP:0003745	Sporadic	-	OMIM:144700
11236	RNF139	HP:0005584	Renal cell carcinoma	-	OMIM:144700
11253	MAN1B1	HP:0002465	Poor speech	HP:0040282	ORPHA:397941
11253	MAN1B1	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0001270	Motor delay	7/7	OMIM:614202
11253	MAN1B1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:397941
11253	MAN1B1	HP:0001250	Seizure	6/31	OMIM:614202
11253	MAN1B1	HP:0001250	Seizure	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0001252	Hypotonia	15/19	OMIM:614202
11253	MAN1B1	HP:0001251	Ataxia	2/12	OMIM:614202
11253	MAN1B1	HP:0001249	Intellectual disability	16/16	OMIM:614202
11253	MAN1B1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:397941
11253	MAN1B1	HP:0002591	Polyphagia	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0001263	Global developmental delay	24/24	OMIM:614202
11253	MAN1B1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:397941
11253	MAN1B1	HP:0002553	Highly arched eyebrow	2/10	OMIM:614202
11253	MAN1B1	HP:0001371	Flexion contracture	1/12	OMIM:614202
11253	MAN1B1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0001382	Joint hypermobility	7/19	OMIM:614202
11253	MAN1B1	HP:0007565	Multiple cafe-au-lait spots	HP:0040284	ORPHA:397941
11253	MAN1B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614202
11253	MAN1B1	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0001321	Cerebellar hypoplasia	1/7	OMIM:614202
11253	MAN1B1	HP:0008947	Floppy infant	HP:0040281	ORPHA:397941
11253	MAN1B1	HP:0004691	2-3 toe syndactyly	HP:0040284	ORPHA:397941
11253	MAN1B1	HP:0002007	Frontal bossing	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0002136	Broad-based gait	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0002342	Intellectual disability, moderate	12/12	OMIM:614202
11253	MAN1B1	HP:0002322	Resting tremor	HP:0040284	ORPHA:397941
11253	MAN1B1	HP:0010814	Abnormal position of hair whorl	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0010801	Underdeveloped nasolabial fold	5/7	OMIM:614202
11253	MAN1B1	HP:0010801	Underdeveloped nasolabial fold	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0007165	Periventricular heterotopia	HP:0040284	ORPHA:397941
11253	MAN1B1	HP:0004209	Clinodactyly of the 5th finger	HP:0040284	ORPHA:397941
11253	MAN1B1	HP:0004209	Clinodactyly of the 5th finger	1/7	OMIM:614202
11253	MAN1B1	HP:0001956	Truncal obesity	HP:0040282	ORPHA:397941
11253	MAN1B1	HP:0001956	Truncal obesity	15/19	OMIM:614202
11253	MAN1B1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:397941
11253	MAN1B1	HP:0004322	Short stature	3/12	OMIM:614202
11253	MAN1B1	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0000718	Aggressive behavior	3/12	OMIM:614202
11253	MAN1B1	HP:0000717	Autism	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0000729	Autistic behavior	1/5	OMIM:614202
11253	MAN1B1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0003186	Inverted nipples	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0003186	Inverted nipples	9/19	OMIM:614202
11253	MAN1B1	HP:0004523	Long eyebrows	3/10	OMIM:614202
11253	MAN1B1	HP:0004523	Long eyebrows	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0045075	Sparse eyebrow	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0045075	Sparse eyebrow	4/10	OMIM:614202
11253	MAN1B1	HP:0000973	Cutis laxa	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0000973	Cutis laxa	5/7	OMIM:614202
11253	MAN1B1	HP:0000286	Epicanthus	HP:0040284	ORPHA:397941
11253	MAN1B1	HP:0000256	Macrocephaly	8/12	OMIM:614202
11253	MAN1B1	HP:0000276	Long face	HP:0040284	ORPHA:397941
11253	MAN1B1	HP:0000276	Long face	2/9	OMIM:614202
11253	MAN1B1	HP:0000272	Malar flattening	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0000272	Malar flattening	2/9	OMIM:614202
11253	MAN1B1	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0000268	Dolichocephaly	7/20	OMIM:614202
11253	MAN1B1	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0000219	Thin upper lip vermilion	13/19	OMIM:614202
11253	MAN1B1	HP:0001513	Obesity	2/12	OMIM:614202
11253	MAN1B1	HP:0000369	Low-set ears	HP:0040282	ORPHA:397941
11253	MAN1B1	HP:0000369	Low-set ears	8/15	OMIM:614202
11253	MAN1B1	HP:0012301	Type II transferrin isoform profile	HP:0040282	ORPHA:397941
11253	MAN1B1	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0000319	Smooth philtrum	-	OMIM:614202
11253	MAN1B1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:397941
11253	MAN1B1	HP:0000316	Hypertelorism	11/17	OMIM:614202
11253	MAN1B1	HP:0000331	Short chin	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0000322	Short philtrum	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0000322	Short philtrum	4/9	OMIM:614202
11253	MAN1B1	HP:0000307	Pointed chin	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0000307	Pointed chin	5/9	OMIM:614202
11253	MAN1B1	HP:0005338	Sparse lateral eyebrow	7/12	OMIM:614202
11253	MAN1B1	HP:0000400	Macrotia	HP:0040282	ORPHA:397941
11253	MAN1B1	HP:0000400	Macrotia	7/7	OMIM:614202
11253	MAN1B1	HP:0000486	Strabismus	5/12	OMIM:614202
11253	MAN1B1	HP:0012471	Thick vermilion border	HP:0040284	ORPHA:397941
11253	MAN1B1	HP:0012472	Eclabion	HP:0040284	ORPHA:397941
11253	MAN1B1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:397941
11253	MAN1B1	HP:0000494	Downslanted palpebral fissures	14/17	OMIM:614202
11253	MAN1B1	HP:0000470	Short neck	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0000470	Short neck	2/8	OMIM:614202
11253	MAN1B1	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:397941
11253	MAN1B1	HP:0000448	Prominent nose	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0000448	Prominent nose	3/9	OMIM:614202
11253	MAN1B1	HP:0000445	Wide nose	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0000445	Wide nose	2/9	OMIM:614202
11253	MAN1B1	HP:0000414	Bulbous nose	7/12	OMIM:614202
11253	MAN1B1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:397941
11253	MAN1B1	HP:0000431	Wide nasal bridge	12/19	OMIM:614202
11253	MAN1B1	HP:0005469	Flat occiput	HP:0040284	ORPHA:397941
11253	MAN1B1	HP:0005469	Flat occiput	1/8	OMIM:614202
11253	MAN1B1	HP:0000527	Long eyelashes	HP:0040284	ORPHA:397941
11253	MAN1B1	HP:0011229	Broad eyebrow	3/10	OMIM:614202
11253	MAN1B1	HP:0000540	Hypermetropia	HP:0040283	ORPHA:397941
11254	SLC6A14	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
11254	SLC6A14	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
11254	SLC6A14	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
11254	SLC6A14	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
11254	SLC6A14	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
11254	SLC6A14	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
11254	SLC6A14	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
11254	SLC6A14	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
11254	SLC6A14	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
11254	SLC6A14	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
11254	SLC6A14	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
11254	SLC6A14	HP:0002099	Asthma	HP:0040283	ORPHA:586
11254	SLC6A14	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
11254	SLC6A14	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
11254	SLC6A14	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
11254	SLC6A14	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
11254	SLC6A14	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
11254	SLC6A14	HP:0000739	Anxiety	HP:0040283	ORPHA:586
11254	SLC6A14	HP:0000716	Depression	HP:0040283	ORPHA:586
11254	SLC6A14	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
11254	SLC6A14	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
11254	SLC6A14	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
11254	SLC6A14	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
11254	SLC6A14	HP:0003251	Male infertility	HP:0040282	ORPHA:586
11254	SLC6A14	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
11254	SLC6A14	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
11254	SLC6A14	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
11254	SLC6A14	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
11254	SLC6A14	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
11254	SLC6A14	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
11254	SLC6A14	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
11254	SLC6A14	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
11254	SLC6A14	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
11254	SLC6A14	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
11254	SLC6A14	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
11261	CHP1	HP:0002460	Distal muscle weakness	2/2	OMIM:618438
11261	CHP1	HP:0007256	Abnormal pyramidal sign	2/2	OMIM:618438
11261	CHP1	HP:0001252	Hypotonia	1/1	OMIM:618438
11261	CHP1	HP:0001251	Ataxia	2/2	OMIM:618438
11261	CHP1	HP:0001249	Intellectual disability	2/2	OMIM:618438
11261	CHP1	HP:0001257	Spasticity	2/2	OMIM:618438
11261	CHP1	HP:0001347	Hyperreflexia	2/2	OMIM:618438
11261	CHP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618438
11261	CHP1	HP:0001310	Dysmetria	2/2	OMIM:618438
11261	CHP1	HP:0007663	Reduced visual acuity	1/2	OMIM:618438
11261	CHP1	HP:0008936	Axial hypotonia	1/2	OMIM:618438
11261	CHP1	HP:0002750	Delayed skeletal maturation	1/2	OMIM:618438
11261	CHP1	HP:0003487	Babinski sign	2/2	OMIM:618438
11261	CHP1	HP:0008209	Premature ovarian insufficiency	1/1	OMIM:618438
11261	CHP1	HP:0003693	Distal amyotrophy	2/2	OMIM:618438
11261	CHP1	HP:0002359	Frequent falls	1/2	OMIM:618438
11261	CHP1	HP:0003621	Juvenile onset	1/2	OMIM:618438
11261	CHP1	HP:0006855	Cerebellar vermis atrophy	1/2	OMIM:618438
11261	CHP1	HP:0006886	Impaired distal vibration sensation	1/2	OMIM:618438
11261	CHP1	HP:0031993	Hoffmann sign	2/2	OMIM:618438
11261	CHP1	HP:0011463	Childhood onset	1/2	OMIM:618438
11261	CHP1	HP:0001510	Growth delay	2/2	OMIM:618438
11261	CHP1	HP:0007941	Limited extraocular movements	1/2	OMIM:618438
11261	CHP1	HP:0001765	Hammertoe	2/2	OMIM:618438
11261	CHP1	HP:0001761	Pes cavus	2/2	OMIM:618438
11261	CHP1	HP:0000514	Slow saccadic eye movements	2/2	OMIM:618438
11267	SNF8	HP:0001272	Cerebellar atrophy	1/1	OMIM:620784
11267	SNF8	HP:0001272	Cerebellar atrophy	1/1	OMIM:620783
11267	SNF8	HP:0001274	Agenesis of corpus callosum	0/4	OMIM:620784
11267	SNF8	HP:0001274	Agenesis of corpus callosum	2/5	OMIM:620783
11267	SNF8	HP:0001250	Seizure	0/4	OMIM:620784
11267	SNF8	HP:0001250	Seizure	2/4	OMIM:620783
11267	SNF8	HP:0001252	Hypotonia	2/2	OMIM:620783
11267	SNF8	HP:0001251	Ataxia	1/4	OMIM:620784
11267	SNF8	HP:0001249	Intellectual disability	4/4	OMIM:620784
11267	SNF8	HP:0001249	Intellectual disability	0/4	OMIM:620783
11267	SNF8	HP:0001263	Global developmental delay	3/4	OMIM:620783
11267	SNF8	HP:0000006	Autosomal dominant inheritance	-	OMIM:620784
11267	SNF8	HP:0000006	Autosomal dominant inheritance	-	OMIM:620783
11267	SNF8	HP:0001302	Pachygyria	1/5	OMIM:620783
11267	SNF8	HP:0002015	Dysphagia	0/4	OMIM:620784
11267	SNF8	HP:0002015	Dysphagia	4/4	OMIM:620783
11267	SNF8	HP:0002079	Hypoplasia of the corpus callosum	0/4	OMIM:620784
11267	SNF8	HP:0002079	Hypoplasia of the corpus callosum	2/5	OMIM:620783
11267	SNF8	HP:0008278	Cerebellar cortical atrophy	2/4	OMIM:620784
11267	SNF8	HP:0008278	Cerebellar cortical atrophy	0/5	OMIM:620783
11267	SNF8	HP:0003577	Congenital onset	4/4	OMIM:620783
11267	SNF8	HP:0002283	Global brain atrophy	2/4	OMIM:620784
11267	SNF8	HP:0002283	Global brain atrophy	4/5	OMIM:620783
11267	SNF8	HP:0011968	Feeding difficulties	1/1	OMIM:620783
11267	SNF8	HP:0002376	Developmental regression	1/4	OMIM:620783
11267	SNF8	HP:0002353	EEG abnormality	0/4	OMIM:620784
11267	SNF8	HP:0002353	EEG abnormality	2/4	OMIM:620783
11267	SNF8	HP:0002352	Leukoencephalopathy	1/1	OMIM:620783
11267	SNF8	HP:0033454	Tube feeding	0/4	OMIM:620784
11267	SNF8	HP:0033454	Tube feeding	3/4	OMIM:620783
11267	SNF8	HP:0003621	Juvenile onset	2/4	OMIM:620784
11267	SNF8	HP:0000639	Nystagmus	3/4	OMIM:620784
11267	SNF8	HP:0000639	Nystagmus	2/2	OMIM:620783
11267	SNF8	HP:0000649	Abnormality of visual evoked potentials	3/3	OMIM:620784
11267	SNF8	HP:0000649	Abnormality of visual evoked potentials	0/1	OMIM:620783
11267	SNF8	HP:0000648	Optic atrophy	3/4	OMIM:620784
11267	SNF8	HP:0000609	Optic nerve hypoplasia	1/1	OMIM:620783
11267	SNF8	HP:0011342	Mild global developmental delay	3/4	OMIM:620784
11267	SNF8	HP:0006989	Dysplastic corpus callosum	1/4	OMIM:620784
11267	SNF8	HP:0006989	Dysplastic corpus callosum	1/5	OMIM:620783
11267	SNF8	HP:0000750	Delayed speech and language development	3/3	OMIM:620784
11267	SNF8	HP:0011463	Childhood onset	2/4	OMIM:620784
11267	SNF8	HP:0000252	Microcephaly	1/4	OMIM:620784
11267	SNF8	HP:0000405	Conductive hearing impairment	1/4	OMIM:620784
11274	USP18	HP:0025116	Fetal distress	1/1	OMIM:617397
11274	USP18	HP:0001290	Generalized hypotonia	-	OMIM:617397
11274	USP18	HP:0001254	Lethargy	-	OMIM:617397
11274	USP18	HP:0001250	Seizure	4/5	OMIM:617397
11274	USP18	HP:0002514	Cerebral calcification	1/5	OMIM:617397
11274	USP18	HP:0033677	Acute respiratory distress syndrome	1/1	OMIM:617397
11274	USP18	HP:0001342	Cerebral hemorrhage	5/6	OMIM:617397
11274	USP18	HP:0000007	Autosomal recessive inheritance	-	OMIM:617397
11274	USP18	HP:0001321	Cerebellar hypoplasia	1/5	OMIM:617397
11274	USP18	HP:0002093	Respiratory insufficiency	4/4	OMIM:617397
11274	USP18	HP:0005932	Abnormal renal corticomedullary differentiation	1/5	OMIM:617397
11274	USP18	HP:0002119	Ventriculomegaly	1/5	OMIM:617397
11274	USP18	HP:0002126	Polymicrogyria	-	OMIM:617397
11274	USP18	HP:0002240	Hepatomegaly	1/5	OMIM:617397
11274	USP18	HP:0002202	Pleural effusion	1/5	OMIM:617397
11274	USP18	HP:0002282	Gray matter heterotopia	-	OMIM:617397
11274	USP18	HP:0003623	Neonatal onset	2/5	OMIM:617397
11274	USP18	HP:0006956	Lateral ventricle dilatation	1/1	OMIM:617397
11274	USP18	HP:0011461	Fetal onset	3/5	OMIM:617397
11274	USP18	HP:0003128	Lactic acidosis	1/5	OMIM:617397
11274	USP18	HP:0000883	Thin ribs	1/5	OMIM:617397
11274	USP18	HP:0000967	Petechiae	3/5	OMIM:617397
11274	USP18	HP:0000252	Microcephaly	1/5	OMIM:617397
11274	USP18	HP:0001541	Ascites	1/5	OMIM:617397
11274	USP18	HP:0002910	Elevated circulating hepatic transaminase concentration	1/5	OMIM:617397
11274	USP18	HP:0001684	Secundum atrial septal defect	1/5	OMIM:617397
11274	USP18	HP:0001643	Patent ductus arteriosus	2/5	OMIM:617397
11274	USP18	HP:0001662	Bradycardia	1/5	OMIM:617397
11274	USP18	HP:0001873	Thrombocytopenia	3/5	OMIM:617397
11277	TREX1	HP:0001147	Retinal exudate	-	OMIM:192315
11277	TREX1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
11277	TREX1	HP:0001123	Visual field defect	HP:0040283	ORPHA:247691
11277	TREX1	HP:0002448	Progressive encephalopathy	-	OMIM:225750
11277	TREX1	HP:0007321	Deep white matter hypodensities	-	OMIM:225750
11277	TREX1	HP:0007305	CNS demyelination	1/1	OMIM:225750
11277	TREX1	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
11277	TREX1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:51
11277	TREX1	HP:0007229	Intracerebral periventricular calcifications	1/1	OMIM:225750
11277	TREX1	HP:0002421	Poor head control	-	OMIM:225750
11277	TREX1	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:51
11277	TREX1	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
11277	TREX1	HP:0001297	Stroke	-	OMIM:192315
11277	TREX1	HP:0100806	Sepsis	HP:0040283	ORPHA:247691
11277	TREX1	HP:0001276	Hypertonia	HP:0040281	ORPHA:51
11277	TREX1	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
11277	TREX1	HP:0001269	Hemiparesis	-	OMIM:192315
11277	TREX1	HP:0001269	Hemiparesis	HP:0040283	ORPHA:247691
11277	TREX1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:51
11277	TREX1	HP:0001250	Seizure	9/66	OMIM:192315
11277	TREX1	HP:0001250	Seizure	5/19	OMIM:225750
11277	TREX1	HP:0001250	Seizure	HP:0040282	ORPHA:51
11277	TREX1	HP:0001250	Seizure	-	OMIM:152700
11277	TREX1	HP:0001250	Seizure	HP:0040283	ORPHA:536
11277	TREX1	HP:0001260	Dysarthria	-	OMIM:192315
11277	TREX1	HP:0001263	Global developmental delay	1/1	OMIM:225750
11277	TREX1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:51
11277	TREX1	HP:0001257	Spasticity	2/2	OMIM:225750
11277	TREX1	HP:0001257	Spasticity	HP:0040281	ORPHA:51
11277	TREX1	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
11277	TREX1	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:247691
11277	TREX1	HP:0007352	Cerebellar calcifications	1/1	OMIM:225750
11277	TREX1	HP:0002540	Inability to walk	1/1	OMIM:225750
11277	TREX1	HP:0002518	Abnormal periventricular white matter morphology	-	OMIM:192315
11277	TREX1	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:247691
11277	TREX1	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:51
11277	TREX1	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:51
11277	TREX1	HP:0002500	Abnormal cerebral white matter morphology	HP:0040281	ORPHA:247691
11277	TREX1	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:247691
11277	TREX1	HP:0000093	Proteinuria	-	OMIM:192315
11277	TREX1	HP:0000093	Proteinuria	HP:0040282	ORPHA:247691
11277	TREX1	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
11277	TREX1	HP:0001369	Arthritis	HP:0040282	ORPHA:536
11277	TREX1	HP:0001369	Arthritis	-	OMIM:152700
11277	TREX1	HP:0001369	Arthritis	HP:0040283	ORPHA:51
11277	TREX1	HP:0000054	Micropenis	HP:0040283	ORPHA:51
11277	TREX1	HP:0033834	Malaise	HP:0040281	ORPHA:536
11277	TREX1	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:51
11277	TREX1	HP:0008872	Feeding difficulties in infancy	-	OMIM:225750
11277	TREX1	HP:0012085	Pyuria	HP:0040282	ORPHA:536
11277	TREX1	HP:0007460	Autoamputation of digits	1/3	OMIM:610448
11277	TREX1	HP:0033726	Lupus nephritis	700/1827	OMIM:152700
11277	TREX1	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
11277	TREX1	HP:0001332	Dystonia	1/1	OMIM:225750
11277	TREX1	HP:0001332	Dystonia	HP:0040282	ORPHA:51
11277	TREX1	HP:0025300	Malar rash	-	OMIM:152700
11277	TREX1	HP:0025300	Malar rash	HP:0040282	ORPHA:536
11277	TREX1	HP:0001344	Absent speech	1/1	OMIM:225750
11277	TREX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
11277	TREX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:225750
11277	TREX1	HP:0001337	Tremor	HP:0040283	ORPHA:51
11277	TREX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:610448
11277	TREX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:152700
11277	TREX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
11277	TREX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:192315
11277	TREX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:225750
11277	TREX1	HP:0002633	Vasculitis	1/1	OMIM:225750
11277	TREX1	HP:0002650	Scoliosis	HP:0040283	ORPHA:51
11277	TREX1	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
11277	TREX1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
11277	TREX1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
11277	TREX1	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:51
11277	TREX1	HP:0008936	Axial hypotonia	-	OMIM:225750
11277	TREX1	HP:0000123	Nephritis	-	OMIM:152700
11277	TREX1	HP:0000112	Nephropathy	HP:0040282	ORPHA:247691
11277	TREX1	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:51
11277	TREX1	HP:0001413	Micronodular cirrhosis	HP:0040283	OMIM:192315
11277	TREX1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
11277	TREX1	HP:0002725	Systemic lupus erythematosus	-	OMIM:152700
11277	TREX1	HP:0040328	Focal hyperintensity of cerebral white matter on MRI	HP:0040283	ORPHA:247691
11277	TREX1	HP:0040331	Focal hypointensity of cerebral white matter on MRI	HP:0040283	ORPHA:247691
11277	TREX1	HP:0002083	Migraine without aura	HP:0040283	ORPHA:247691
11277	TREX1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:247691
11277	TREX1	HP:0002090	Pneumonia	HP:0040283	ORPHA:247691
11277	TREX1	HP:0002062	Abnormal pyramidal tract morphology	-	OMIM:225750
11277	TREX1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:51
11277	TREX1	HP:0002076	Migraine	28/53	OMIM:192315
11277	TREX1	HP:0002076	Migraine	HP:0040282	ORPHA:247691
11277	TREX1	HP:0002077	Migraine with aura	HP:0040283	ORPHA:247691
11277	TREX1	HP:0002072	Chorea	HP:0040284	ORPHA:536
11277	TREX1	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040282	ORPHA:247691
11277	TREX1	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:225750
11277	TREX1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:51
11277	TREX1	HP:0002039	Anorexia	HP:0040281	ORPHA:536
11277	TREX1	HP:0002059	Cerebral atrophy	-	OMIM:225750
11277	TREX1	HP:0100578	Lipoatrophy	HP:0040284	ORPHA:51
11277	TREX1	HP:0002139	Arrhinencephaly	HP:0040281	ORPHA:51
11277	TREX1	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
11277	TREX1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:51
11277	TREX1	HP:0002135	Basal ganglia calcification	25/25	OMIM:225750
11277	TREX1	HP:0002132	Porencephalic cyst	HP:0040281	ORPHA:51
11277	TREX1	HP:0002102	Pleuritis	-	OMIM:152700
11277	TREX1	HP:0002186	Apraxia	-	OMIM:192315
11277	TREX1	HP:0002187	Intellectual disability, profound	-	OMIM:225750
11277	TREX1	HP:0002187	Intellectual disability, profound	HP:0040281	ORPHA:51
11277	TREX1	HP:0002197	Generalized-onset seizure	HP:0040283	ORPHA:247691
11277	TREX1	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
11277	TREX1	HP:0003493	Antinuclear antibody positivity	2/2	OMIM:610448
11277	TREX1	HP:0003493	Antinuclear antibody positivity	-	OMIM:152700
11277	TREX1	HP:0008223	Compensated hypothyroidism	HP:0040282	ORPHA:247691
11277	TREX1	HP:0011834	Moyamoya phenomenon	HP:0040284	ORPHA:51
11277	TREX1	HP:0003593	Infantile onset	1/3	OMIM:610448
11277	TREX1	HP:0002240	Hepatomegaly	9/19	OMIM:225750
11277	TREX1	HP:0002239	Gastrointestinal hemorrhage	9/77	OMIM:192315
11277	TREX1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:247691
11277	TREX1	HP:0003581	Adult onset	-	OMIM:192315
11277	TREX1	HP:0003552	Muscle stiffness	HP:0040283	ORPHA:51
11277	TREX1	HP:0003565	Elevated erythrocyte sedimentation rate	-	OMIM:192315
11277	TREX1	HP:0003565	Elevated erythrocyte sedimentation rate	1/2	OMIM:610448
11277	TREX1	HP:0200149	CSF lymphocytic pleiocytosis	1/1	OMIM:225750
11277	TREX1	HP:0009709	Increased CSF interferon alpha	34/34	OMIM:225750
11277	TREX1	HP:0009709	Increased CSF interferon alpha	HP:0040282	ORPHA:51
11277	TREX1	HP:0009710	Chilblains	40/90	OMIM:225750
11277	TREX1	HP:0009710	Chilblains	3/3	OMIM:610448
11277	TREX1	HP:0009710	Chilblains	HP:0040282	ORPHA:51
11277	TREX1	HP:0009704	Chronic CSF lymphocytosis	23/23	OMIM:225750
11277	TREX1	HP:0009704	Chronic CSF lymphocytosis	HP:0040282	ORPHA:51
11277	TREX1	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
11277	TREX1	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
11277	TREX1	HP:0007017	Progressive forgetfulness	-	OMIM:192315
11277	TREX1	HP:0007009	Central nervous system degeneration	-	OMIM:192315
11277	TREX1	HP:0011954	Nodular regenerative hyperplasia of liver	HP:0040282	ORPHA:247691
11277	TREX1	HP:0004809	Neonatal alloimmune thrombocytopenia	HP:0040283	ORPHA:51
11277	TREX1	HP:0007076	Extrapyramidal muscular rigidity	HP:0040282	ORPHA:51
11277	TREX1	HP:0007052	Multifocal cerebral white matter abnormalities	HP:0040281	ORPHA:51
11277	TREX1	HP:0002381	Aphasia	HP:0040283	ORPHA:247691
11277	TREX1	HP:0002395	Lower limb hyperreflexia	-	OMIM:192315
11277	TREX1	HP:0001063	Acrocyanosis	-	OMIM:225750
11277	TREX1	HP:0001063	Acrocyanosis	HP:0040283	ORPHA:51
11277	TREX1	HP:0002376	Developmental regression	HP:0040282	ORPHA:51
11277	TREX1	HP:0002371	Loss of speech	HP:0040282	ORPHA:51
11277	TREX1	HP:0002344	Progressive neurologic deterioration	HP:0040283	ORPHA:247691
11277	TREX1	HP:0003676	Progressive	-	OMIM:192315
11277	TREX1	HP:0001009	Telangiectasia	-	OMIM:192315
11277	TREX1	HP:0001009	Telangiectasia	HP:0040283	ORPHA:247691
11277	TREX1	HP:0002354	Memory impairment	HP:0040283	ORPHA:247691
11277	TREX1	HP:0002352	Leukoencephalopathy	-	OMIM:225750
11277	TREX1	HP:0002315	Headache	HP:0040283	ORPHA:51
11277	TREX1	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:51
11277	TREX1	HP:0200029	Vasculitis in the skin	-	OMIM:192315
11277	TREX1	HP:0200030	Punctate vasculitis skin lesions	HP:0040284	ORPHA:247691
11277	TREX1	HP:0200030	Punctate vasculitis skin lesions	-	OMIM:192315
11277	TREX1	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
11277	TREX1	HP:0100614	Myositis	HP:0040284	ORPHA:51
11277	TREX1	HP:0200042	Skin ulcer	3/3	OMIM:610448
11277	TREX1	HP:0001087	Developmental glaucoma	HP:0040283	ORPHA:51
11277	TREX1	HP:0010783	Erythema	1/1	OMIM:225750
11277	TREX1	HP:0009763	Limb pain	-	OMIM:192315
11277	TREX1	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:51
11277	TREX1	HP:0004963	Calcification of the aorta	HP:0040284	ORPHA:51
11277	TREX1	HP:0003621	Juvenile onset	8/19	OMIM:180100
11277	TREX1	HP:0003613	Antiphospholipid antibody positivity	1/79	OMIM:225750
11277	TREX1	HP:0003613	Antiphospholipid antibody positivity	-	OMIM:152700
11277	TREX1	HP:0004942	Aortic aneurysm	HP:0040284	ORPHA:51
11277	TREX1	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
11277	TREX1	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
11277	TREX1	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
11277	TREX1	HP:0005550	Chronic lymphatic leukemia	HP:0040284	ORPHA:51
11277	TREX1	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
11277	TREX1	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
11277	TREX1	HP:0000639	Nystagmus	-	OMIM:225750
11277	TREX1	HP:0000639	Nystagmus	HP:0040283	ORPHA:51
11277	TREX1	HP:0001945	Fever	-	OMIM:225750
11277	TREX1	HP:0001945	Fever	HP:0040281	ORPHA:536
11277	TREX1	HP:0001955	Unexplained fevers	HP:0040282	ORPHA:51
11277	TREX1	HP:0000625	Eyelid coloboma	HP:0040282	ORPHA:51
11277	TREX1	HP:0000662	Nyctalopia	26/28	OMIM:180100
11277	TREX1	HP:0004322	Short stature	1/1	OMIM:225750
11277	TREX1	HP:0004322	Short stature	HP:0040282	ORPHA:51
11277	TREX1	HP:0031987	Diminished ability to concentrate	-	OMIM:192315
11277	TREX1	HP:0030666	Retinal neovascularization	HP:0040283	ORPHA:247691
11277	TREX1	HP:0004394	Multiple gastric polyps	-	OMIM:225750
11277	TREX1	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:51
11277	TREX1	HP:0000737	Irritability	HP:0040283	ORPHA:247691
11277	TREX1	HP:0000737	Irritability	HP:0040282	ORPHA:51
11277	TREX1	HP:0000739	Anxiety	HP:0040283	ORPHA:247691
11277	TREX1	HP:0000741	Apathy	HP:0040283	ORPHA:247691
11277	TREX1	HP:0000742	Self-mutilation	1/1	OMIM:225750
11277	TREX1	HP:0000716	Depression	HP:0040283	ORPHA:247691
11277	TREX1	HP:0000716	Depression	HP:0040283	ORPHA:536
11277	TREX1	HP:0000726	Dementia	33/70	OMIM:192315
11277	TREX1	HP:0000709	Psychosis	HP:0040283	ORPHA:247691
11277	TREX1	HP:0000709	Psychosis	-	OMIM:152700
11277	TREX1	HP:0000708	Atypical behavior	-	OMIM:192315
11277	TREX1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:247691
11277	TREX1	HP:0011463	Childhood onset	3/19	OMIM:180100
11277	TREX1	HP:0011463	Childhood onset	2/3	OMIM:610448
11277	TREX1	HP:0011462	Young adult onset	8/19	OMIM:180100
11277	TREX1	HP:0000790	Hematuria	HP:0040282	ORPHA:536
11277	TREX1	HP:0000790	Hematuria	-	OMIM:192315
11277	TREX1	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
11277	TREX1	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040284	ORPHA:247691
11277	TREX1	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:247691
11277	TREX1	HP:0000873	Diabetes insipidus	3/79	OMIM:225750
11277	TREX1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:51
11277	TREX1	HP:0000822	Hypertension	HP:0040282	ORPHA:536
11277	TREX1	HP:0000822	Hypertension	HP:0040282	ORPHA:247691
11277	TREX1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:51
11277	TREX1	HP:0000821	Hypothyroidism	6/79	OMIM:225750
11277	TREX1	HP:0040049	Macular edema	HP:0040283	ORPHA:247691
11277	TREX1	HP:0040049	Macular edema	-	OMIM:192315
11277	TREX1	HP:0030880	Raynaud phenomenon	31/73	OMIM:192315
11277	TREX1	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
11277	TREX1	HP:0030880	Raynaud phenomenon	0/3	OMIM:610448
11277	TREX1	HP:0030880	Raynaud phenomenon	HP:0040281	ORPHA:247691
11277	TREX1	HP:0030880	Raynaud phenomenon	HP:0040283	ORPHA:51
11277	TREX1	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
11277	TREX1	HP:0045073	Serositis	HP:0040283	ORPHA:536
11277	TREX1	HP:0003259	Elevated circulating creatinine concentration	HP:0040282	ORPHA:247691
11277	TREX1	HP:0000979	Purpura	-	OMIM:225750
11277	TREX1	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
11277	TREX1	HP:0000992	Cutaneous photosensitivity	0/3	OMIM:610448
11277	TREX1	HP:0000992	Cutaneous photosensitivity	-	OMIM:152700
11277	TREX1	HP:0000988	Skin rash	HP:0040284	ORPHA:247691
11277	TREX1	HP:0000958	Dry skin	HP:0040282	ORPHA:51
11277	TREX1	HP:0000969	Edema	-	OMIM:192315
11277	TREX1	HP:0000965	Cutis marmorata	HP:0040283	ORPHA:51
11277	TREX1	HP:0000967	Petechiae	1/1	OMIM:225750
11277	TREX1	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
11277	TREX1	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
11277	TREX1	HP:0040140	Degeneration of the striatum	HP:0040284	ORPHA:51
11277	TREX1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:247691
11277	TREX1	HP:0001597	Abnormal nail morphology	HP:0040283	OMIM:610448
11277	TREX1	HP:0001596	Alopecia	HP:0040282	ORPHA:536
11277	TREX1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
11277	TREX1	HP:0002829	Arthralgia	3/3	OMIM:610448
11277	TREX1	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:51
11277	TREX1	HP:0000253	Progressive microcephaly	-	OMIM:225750
11277	TREX1	HP:0000252	Microcephaly	2/2	OMIM:225750
11277	TREX1	HP:0000252	Microcephaly	HP:0040282	ORPHA:51
11277	TREX1	HP:0030038	Enchondroma	HP:0040284	ORPHA:51
11277	TREX1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
11277	TREX1	HP:0012378	Fatigue	HP:0040281	ORPHA:536
11277	TREX1	HP:0012377	Hemianopia	HP:0040283	ORPHA:247691
11277	TREX1	HP:0006579	Prolonged neonatal jaundice	-	OMIM:225750
11277	TREX1	HP:0006579	Prolonged neonatal jaundice	HP:0040283	ORPHA:51
11277	TREX1	HP:0001609	Hoarse voice	HP:0040283	ORPHA:51
11277	TREX1	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:192315
11277	TREX1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:51
11277	TREX1	HP:0002910	Elevated circulating hepatic transaminase concentration	6/19	OMIM:225750
11277	TREX1	HP:0000369	Low-set ears	HP:0040283	ORPHA:51
11277	TREX1	HP:0002960	Autoimmunity	HP:0040282	ORPHA:51
11277	TREX1	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:51
11277	TREX1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:51
11277	TREX1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:247691
11277	TREX1	HP:0001638	Cardiomyopathy	9/79	OMIM:225750
11277	TREX1	HP:0031606	Retinal cotton wool spot	HP:0040283	ORPHA:247691
11277	TREX1	HP:0030319	Weakness of facial musculature	HP:0040283	ORPHA:247691
11277	TREX1	HP:0011163	Focal sensory seizure with somatosensory features	HP:0040283	ORPHA:247691
11277	TREX1	HP:0012490	Panniculitis	HP:0040283	ORPHA:51
11277	TREX1	HP:0001701	Pericarditis	-	OMIM:152700
11277	TREX1	HP:0000486	Strabismus	-	OMIM:225750
11277	TREX1	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:51
11277	TREX1	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
11277	TREX1	HP:0012444	Brain atrophy	HP:0040282	ORPHA:51
11277	TREX1	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:51
11277	TREX1	HP:0001744	Splenomegaly	HP:0040283	OMIM:225750
11277	TREX1	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
11277	TREX1	HP:0006707	Abnormality of the hepatic vasculature	HP:0040282	ORPHA:247691
11277	TREX1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
11277	TREX1	HP:0000529	Progressive visual loss	-	OMIM:192315
11277	TREX1	HP:0001824	Weight loss	HP:0040281	ORPHA:536
11277	TREX1	HP:0000508	Ptosis	HP:0040283	ORPHA:51
11277	TREX1	HP:0000505	Visual impairment	-	OMIM:192315
11277	TREX1	HP:0000501	Glaucoma	HP:0040283	ORPHA:247691
11277	TREX1	HP:0000501	Glaucoma	HP:0040283	ORPHA:51
11277	TREX1	HP:0000501	Glaucoma	7/79	OMIM:225750
11277	TREX1	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040282	ORPHA:51
11277	TREX1	HP:0000575	Scotoma	5/18	OMIM:180100
11277	TREX1	HP:0000573	Retinal hemorrhage	-	OMIM:192315
11277	TREX1	HP:0001895	Normochromic anemia	HP:0040282	ORPHA:247691
11277	TREX1	HP:0001897	Normocytic anemia	HP:0040282	ORPHA:247691
11277	TREX1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
11277	TREX1	HP:0001882	Decreased total leukocyte count	-	OMIM:152700
11277	TREX1	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
11277	TREX1	HP:0001878	Hemolytic anemia	-	OMIM:152700
11277	TREX1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
11277	TREX1	HP:0001873	Thrombocytopenia	12/17	OMIM:225750
11277	TREX1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
11277	TREX1	HP:0001873	Thrombocytopenia	-	OMIM:152700
11277	TREX1	HP:0000545	Myopia	-	OMIM:180100
11280	SCN11A	HP:0001270	Motor delay	2/2	OMIM:615548
11280	SCN11A	HP:0001250	Seizure	HP:0040281	ORPHA:46348
11280	SCN11A	HP:0001324	Muscle weakness	2/2	OMIM:615548
11280	SCN11A	HP:0000006	Autosomal dominant inheritance	-	OMIM:615548
11280	SCN11A	HP:0000006	Autosomal dominant inheritance	-	OMIM:615552
11280	SCN11A	HP:0002633	Vasculitis	HP:0040283	ORPHA:90026
11280	SCN11A	HP:0002019	Constipation	HP:0040282	ORPHA:46348
11280	SCN11A	HP:0002019	Constipation	-	OMIM:615548
11280	SCN11A	HP:0002014	Diarrhea	-	OMIM:615548
11280	SCN11A	HP:0002045	Hypothermia	HP:0040283	ORPHA:90026
11280	SCN11A	HP:0003593	Infantile onset	-	OMIM:615552
11280	SCN11A	HP:0003577	Congenital onset	2/2	OMIM:615548
11280	SCN11A	HP:0200101	Decreased/absent ankle reflexes	HP:0040283	ORPHA:90026
11280	SCN11A	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:90026
11280	SCN11A	HP:0007021	Pain insensitivity	2/2	OMIM:615548
11280	SCN11A	HP:0001058	Poor wound healing	2/2	OMIM:615548
11280	SCN11A	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:90026
11280	SCN11A	HP:0010783	Erythema	HP:0040281	ORPHA:90026
11280	SCN11A	HP:0032147	Erythromelalgia	HP:0040281	ORPHA:90026
11280	SCN11A	HP:0010741	Pedal edema	HP:0040283	ORPHA:90026
11280	SCN11A	HP:0001909	Leukemia	HP:0040283	ORPHA:90026
11280	SCN11A	HP:0000975	Hyperhidrosis	-	OMIM:615548
11280	SCN11A	HP:0000989	Pruritus	HP:0040282	ORPHA:90026
11280	SCN11A	HP:0000989	Pruritus	-	OMIM:615548
11280	SCN11A	HP:0002936	Distal sensory impairment	HP:0040283	ORPHA:90026
11280	SCN11A	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	OMIM:615552
11280	SCN11A	HP:0012332	Abnormal autonomic nervous system physiology	-	OMIM:615548
11280	SCN11A	HP:0012533	Allodynia	HP:0040283	ORPHA:90026
11280	SCN11A	HP:0012534	Dysesthesia	HP:0040283	ORPHA:90026
11280	SCN11A	HP:0001872	Abnormality of thrombocytes	HP:0040283	ORPHA:90026
11280	SCN11A	HP:0012531	Pain	-	OMIM:615552
11281	POU6F2	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:654
11281	POU6F2	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:654
11281	POU6F2	HP:0000047	Hypospadias	HP:0040283	ORPHA:654
11281	POU6F2	HP:0033834	Malaise	HP:0040283	ORPHA:654
11281	POU6F2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:654
11281	POU6F2	HP:0002664	Neoplasm	HP:0040281	ORPHA:654
11281	POU6F2	HP:0002667	Nephroblastoma	-	OMIM:601583
11281	POU6F2	HP:0002667	Nephroblastoma	HP:0040281	ORPHA:654
11281	POU6F2	HP:0000006	Autosomal dominant inheritance	-	OMIM:601583
11281	POU6F2	HP:0031105	Abnormal uterus morphology	HP:0040283	ORPHA:654
11281	POU6F2	HP:0001442	Typified by somatic mosaicism	-	OMIM:601583
11281	POU6F2	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:654
11281	POU6F2	HP:0002027	Abdominal pain	HP:0040282	ORPHA:654
11281	POU6F2	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:654
11281	POU6F2	HP:0002094	Dyspnea	HP:0040284	ORPHA:654
11281	POU6F2	HP:0008330	Reduced von Willebrand factor activity	HP:0040283	ORPHA:654
11281	POU6F2	HP:0005580	Duplication of renal pelvis	HP:0040282	ORPHA:654
11281	POU6F2	HP:0001945	Fever	HP:0040283	ORPHA:654
11281	POU6F2	HP:0001903	Anemia	HP:0040283	ORPHA:654
11281	POU6F2	HP:0001901	Polycythemia	HP:0040283	ORPHA:654
11281	POU6F2	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:654
11281	POU6F2	HP:0012871	Varicocele	HP:0040283	ORPHA:654
11281	POU6F2	HP:0000822	Hypertension	HP:0040283	ORPHA:654
11281	POU6F2	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:654
11281	POU6F2	HP:0001528	Hemihypertrophy	HP:0040283	ORPHA:654
11281	POU6F2	HP:0031500	Abdominal mass	HP:0040281	ORPHA:654
11281	POU6F2	HP:0002907	Microscopic hematuria	HP:0040283	ORPHA:654
11281	POU6F2	HP:0000526	Aniridia	HP:0040283	ORPHA:654
11281	POU6F2	HP:0001824	Weight loss	HP:0040283	ORPHA:654
11281	POU6F2	HP:0012587	Macroscopic hematuria	HP:0040282	ORPHA:654
11284	PNKP	HP:0002495	Impaired vibratory sensation	8/11	OMIM:616267
11284	PNKP	HP:0002460	Distal muscle weakness	-	OMIM:605589
11284	PNKP	HP:0002442	Dyscalculia	HP:0040283	ORPHA:459033
11284	PNKP	HP:0002445	Tetraplegia	-	OMIM:616267
11284	PNKP	HP:0007256	Abnormal pyramidal sign	2/11	OMIM:616267
11284	PNKP	HP:0010864	Intellectual disability, severe	-	OMIM:613402
11284	PNKP	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:1934
11284	PNKP	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:1934
11284	PNKP	HP:0009879	Simplified gyral pattern	-	OMIM:613402
11284	PNKP	HP:0002421	Poor head control	HP:0040282	ORPHA:1934
11284	PNKP	HP:0001272	Cerebellar atrophy	11/11	OMIM:616267
11284	PNKP	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:1934
11284	PNKP	HP:0001272	Cerebellar atrophy	2/2	OMIM:613402
11284	PNKP	HP:0001270	Motor delay	-	OMIM:613402
11284	PNKP	HP:0001284	Areflexia	11/11	OMIM:616267
11284	PNKP	HP:0001284	Areflexia	-	OMIM:605589
11284	PNKP	HP:0001254	Lethargy	HP:0040282	ORPHA:1934
11284	PNKP	HP:0001250	Seizure	11/11	OMIM:613402
11284	PNKP	HP:0001250	Seizure	HP:0040280	ORPHA:1934
11284	PNKP	HP:0001252	Hypotonia	-	OMIM:613402
11284	PNKP	HP:0001251	Ataxia	2/2	OMIM:613402
11284	PNKP	HP:0001251	Ataxia	HP:0040280	ORPHA:459033
11284	PNKP	HP:0001251	Ataxia	11/11	OMIM:616267
11284	PNKP	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1934
11284	PNKP	HP:0001265	Hyporeflexia	HP:0040283	OMIM:613402
11284	PNKP	HP:0001265	Hyporeflexia	-	OMIM:605589
11284	PNKP	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:1934
11284	PNKP	HP:0001260	Dysarthria	HP:0040283	ORPHA:459033
11284	PNKP	HP:0001263	Global developmental delay	13/13	OMIM:613402
11284	PNKP	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1934
11284	PNKP	HP:0001257	Spasticity	HP:0040283	ORPHA:1934
11284	PNKP	HP:0007366	Atrophy/Degeneration affecting the brainstem	3/11	OMIM:616267
11284	PNKP	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:1934
11284	PNKP	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:1934
11284	PNKP	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:1934
11284	PNKP	HP:0000070	Ureterocele	HP:0040284	ORPHA:1934
11284	PNKP	HP:0000054	Micropenis	HP:0040284	ORPHA:1934
11284	PNKP	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1934
11284	PNKP	HP:0001332	Dystonia	HP:0040282	ORPHA:459033
11284	PNKP	HP:0001332	Dystonia	8/11	OMIM:616267
11284	PNKP	HP:0001332	Dystonia	HP:0040284	ORPHA:1934
11284	PNKP	HP:0000007	Autosomal recessive inheritance	-	OMIM:613402
11284	PNKP	HP:0000007	Autosomal recessive inheritance	-	OMIM:616267
11284	PNKP	HP:0000007	Autosomal recessive inheritance	-	OMIM:605589
11284	PNKP	HP:0001337	Tremor	HP:0040283	ORPHA:1934
11284	PNKP	HP:0001336	Myoclonus	HP:0040283	ORPHA:1934
11284	PNKP	HP:0001302	Pachygyria	HP:0040283	ORPHA:1934
11284	PNKP	HP:0000175	Cleft palate	HP:0040284	ORPHA:1934
11284	PNKP	HP:0008947	Floppy infant	HP:0040282	ORPHA:1934
11284	PNKP	HP:0008955	Progressive distal muscular atrophy	HP:0040283	ORPHA:459033
11284	PNKP	HP:0006254	Elevated circulating alpha-fetoprotein concentration	5/9	OMIM:616267
11284	PNKP	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:1934
11284	PNKP	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:459033
11284	PNKP	HP:0002033	Poor suck	HP:0040282	ORPHA:1934
11284	PNKP	HP:0002015	Dysphagia	HP:0040282	ORPHA:1934
11284	PNKP	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:459033
11284	PNKP	HP:0100543	Cognitive impairment	7/10	OMIM:616267
11284	PNKP	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:1934
11284	PNKP	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1934
11284	PNKP	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:613402
11284	PNKP	HP:0003474	Somatic sensory dysfunction	HP:0040283	ORPHA:459033
11284	PNKP	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:1934
11284	PNKP	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:1934
11284	PNKP	HP:0002119	Ventriculomegaly	6/6	OMIM:613402
11284	PNKP	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:1934
11284	PNKP	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:605589
11284	PNKP	HP:0002172	Postural instability	HP:0040283	ORPHA:459033
11284	PNKP	HP:0010522	Dyslexia	HP:0040283	ORPHA:459033
11284	PNKP	HP:0003581	Adult onset	-	OMIM:605589
11284	PNKP	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:1934
11284	PNKP	HP:0003560	Muscular dystrophy	HP:0040283	ORPHA:459033
11284	PNKP	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1934
11284	PNKP	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:1934
11284	PNKP	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1934
11284	PNKP	HP:0003693	Distal amyotrophy	-	OMIM:605589
11284	PNKP	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:1934
11284	PNKP	HP:0002376	Developmental regression	HP:0040283	ORPHA:1934
11284	PNKP	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1934
11284	PNKP	HP:0001009	Telangiectasia	-	ORPHA:459033
11284	PNKP	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1934
11284	PNKP	HP:0003678	Rapidly progressive	-	OMIM:616267
11284	PNKP	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:1934
11284	PNKP	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1934
11284	PNKP	HP:0010819	Atonic seizure	HP:0040283	ORPHA:1934
11284	PNKP	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:1934
11284	PNKP	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:459033
11284	PNKP	HP:0009830	Peripheral neuropathy	11/11	OMIM:616267
11284	PNKP	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:459033
11284	PNKP	HP:0003621	Juvenile onset	4/11	OMIM:616267
11284	PNKP	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:459033
11284	PNKP	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:459033
11284	PNKP	HP:0000657	Oculomotor apraxia	11/11	OMIM:616267
11284	PNKP	HP:0003073	Hypoalbuminemia	6/9	OMIM:616267
11284	PNKP	HP:0000752	Hyperactivity	12/12	OMIM:613402
11284	PNKP	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1934
11284	PNKP	HP:0000736	Short attention span	HP:0040283	ORPHA:459033
11284	PNKP	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1934
11284	PNKP	HP:0010174	Broad phalanx of the toes	HP:0040284	ORPHA:1934
11284	PNKP	HP:0011463	Childhood onset	7/11	OMIM:616267
11284	PNKP	HP:0003124	Hypercholesterolemia	5/9	OMIM:616267
11284	PNKP	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1934
11284	PNKP	HP:0003202	Skeletal muscle atrophy	-	OMIM:613402
11284	PNKP	HP:0009381	Short finger	HP:0040284	ORPHA:1934
11284	PNKP	HP:0000253	Progressive microcephaly	-	OMIM:613402
11284	PNKP	HP:0000252	Microcephaly	13/13	OMIM:613402
11284	PNKP	HP:0000252	Microcephaly	HP:0040284	ORPHA:1934
11284	PNKP	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1934
11284	PNKP	HP:0001508	Failure to thrive	HP:0040284	ORPHA:1934
11284	PNKP	HP:0001500	Broad finger	HP:0040284	ORPHA:1934
11284	PNKP	HP:0001513	Obesity	HP:0040282	ORPHA:459033
11284	PNKP	HP:0001513	Obesity	4/11	OMIM:616267
11284	PNKP	HP:0002936	Distal sensory impairment	-	OMIM:605589
11284	PNKP	HP:0000340	Sloping forehead	HP:0040284	ORPHA:1934
11284	PNKP	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:1934
11284	PNKP	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	HP:0040283	ORPHA:1934
11284	PNKP	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:1934
11284	PNKP	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:1934
11284	PNKP	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:1934
11284	PNKP	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:1934
11284	PNKP	HP:0000486	Strabismus	HP:0040284	ORPHA:1934
11284	PNKP	HP:0012469	Infantile spasms	HP:0040283	ORPHA:1934
11284	PNKP	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1934
11284	PNKP	HP:0012448	Delayed myelination	HP:0040283	ORPHA:1934
11284	PNKP	HP:0001780	Abnormal toe morphology	HP:0040283	ORPHA:459033
11284	PNKP	HP:0001761	Pes cavus	HP:0040283	ORPHA:459033
11284	PNKP	HP:0012554	Absent thumbnail	HP:0040284	ORPHA:1934
11284	PNKP	HP:0000570	Abnormal saccadic eye movements	HP:0040283	ORPHA:459033
11285	B4GALT7	HP:0001156	Brachydactyly	-	OMIM:143095
11285	B4GALT7	HP:0001166	Arachnodactyly	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0001166	Arachnodactyly	-	OMIM:130070
11285	B4GALT7	HP:0009882	Short distal phalanx of finger	-	OMIM:143095
11285	B4GALT7	HP:0008551	Microtia	-	OMIM:143095
11285	B4GALT7	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
11285	B4GALT7	HP:0001293	Cranial nerve compression	-	OMIM:131300
11285	B4GALT7	HP:0001290	Generalized hypotonia	10/32	OMIM:130070
11285	B4GALT7	HP:0100813	Testicular torsion	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0001270	Motor delay	10/32	OMIM:130070
11285	B4GALT7	HP:0001256	Intellectual disability, mild	-	OMIM:259770
11285	B4GALT7	HP:0001252	Hypotonia	-	OMIM:130070
11285	B4GALT7	HP:0001252	Hypotonia	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0001252	Hypotonia	-	OMIM:259770
11285	B4GALT7	HP:0001252	Hypotonia	2/7	OMIM:615777
11285	B4GALT7	HP:0001249	Intellectual disability	0/9	OMIM:143095
11285	B4GALT7	HP:0001249	Intellectual disability	3/20	OMIM:150250
11285	B4GALT7	HP:0001249	Intellectual disability	5/7	OMIM:615777
11285	B4GALT7	HP:0001263	Global developmental delay	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0001263	Global developmental delay	1/1	OMIM:612394
11285	B4GALT7	HP:0001263	Global developmental delay	-	OMIM:615777
11285	B4GALT7	HP:0100864	Short femoral neck	-	OMIM:143095
11285	B4GALT7	HP:0006067	Multiple carpal ossification centers	-	OMIM:143095
11285	B4GALT7	HP:0006067	Multiple carpal ossification centers	-	OMIM:150250
11285	B4GALT7	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:143095
11285	B4GALT7	HP:0003883	Tapered humerus	3/16	OMIM:150250
11285	B4GALT7	HP:0001222	Spatulate thumbs	17/18	OMIM:150250
11285	B4GALT7	HP:0002515	Waddling gait	54/102	OMIM:131300
11285	B4GALT7	HP:0002515	Waddling gait	-	OMIM:143095
11285	B4GALT7	HP:0003834	Shoulder dislocation	-	OMIM:143095
11285	B4GALT7	HP:0001371	Flexion contracture	-	OMIM:143095
11285	B4GALT7	HP:0001371	Flexion contracture	4/9	OMIM:130070
11285	B4GALT7	HP:0001371	Flexion contracture	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0001373	Joint dislocation	-	OMIM:130070
11285	B4GALT7	HP:0001373	Joint dislocation	-	OMIM:143095
11285	B4GALT7	HP:0001382	Joint hypermobility	-	OMIM:130070
11285	B4GALT7	HP:0001382	Joint hypermobility	-	OMIM:259770
11285	B4GALT7	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:75496
11285	B4GALT7	HP:0001382	Joint hypermobility	-	OMIM:150250
11285	B4GALT7	HP:0001382	Joint hypermobility	-	OMIM:615777
11285	B4GALT7	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
11285	B4GALT7	HP:0001363	Craniosynostosis	6/8	OMIM:130070
11285	B4GALT7	HP:0002694	Sclerosis of skull base	-	OMIM:131300
11285	B4GALT7	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0000028	Cryptorchidism	-	OMIM:150250
11285	B4GALT7	HP:0008897	Postnatal growth retardation	-	OMIM:615777
11285	B4GALT7	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
11285	B4GALT7	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
11285	B4GALT7	HP:0007469	Palmoplantar cutis gyrata	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0007469	Palmoplantar cutis gyrata	-	OMIM:130070
11285	B4GALT7	HP:0003994	Dislocated wrist	-	OMIM:150250
11285	B4GALT7	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
11285	B4GALT7	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
11285	B4GALT7	HP:0001324	Muscle weakness	40/96	OMIM:131300
11285	B4GALT7	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:143095
11285	B4GALT7	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
11285	B4GALT7	HP:0002673	Coxa valga	-	OMIM:130070
11285	B4GALT7	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
11285	B4GALT7	HP:0000007	Autosomal recessive inheritance	-	OMIM:143095
11285	B4GALT7	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
11285	B4GALT7	HP:0000007	Autosomal recessive inheritance	-	OMIM:130070
11285	B4GALT7	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
11285	B4GALT7	HP:0000006	Autosomal dominant inheritance	-	OMIM:150250
11285	B4GALT7	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
11285	B4GALT7	HP:0002652	Skeletal dysplasia	HP:0040282	ORPHA:75496
11285	B4GALT7	HP:0002650	Scoliosis	7/32	OMIM:130070
11285	B4GALT7	HP:0002650	Scoliosis	1/5	OMIM:259770
11285	B4GALT7	HP:0002650	Scoliosis	1/1	OMIM:612394
11285	B4GALT7	HP:0002650	Scoliosis	9/9	OMIM:143095
11285	B4GALT7	HP:0002650	Scoliosis	12/14	OMIM:131300
11285	B4GALT7	HP:0002650	Scoliosis	12/20	OMIM:150250
11285	B4GALT7	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
11285	B4GALT7	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
11285	B4GALT7	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
11285	B4GALT7	HP:0008905	Rhizomelia	-	OMIM:143095
11285	B4GALT7	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
11285	B4GALT7	HP:0000193	Bifid uvula	4/31	OMIM:130070
11285	B4GALT7	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
11285	B4GALT7	HP:0000160	Narrow mouth	28/30	OMIM:130070
11285	B4GALT7	HP:0000160	Narrow mouth	HP:0040282	ORPHA:75496
11285	B4GALT7	HP:0000175	Cleft palate	4/31	OMIM:130070
11285	B4GALT7	HP:0000175	Cleft palate	3/20	OMIM:150250
11285	B4GALT7	HP:0000175	Cleft palate	2/7	OMIM:615777
11285	B4GALT7	HP:0007598	Bilateral single transverse palmar creases	-	OMIM:143095
11285	B4GALT7	HP:0006243	Phalangeal dislocation	HP:0040283	OMIM:130070
11285	B4GALT7	HP:0002780	Bronchomalacia	-	OMIM:150250
11285	B4GALT7	HP:0002779	Tracheomalacia	-	OMIM:150250
11285	B4GALT7	HP:0002777	Tracheal stenosis	-	OMIM:150250
11285	B4GALT7	HP:0002757	Recurrent fractures	4/5	OMIM:259770
11285	B4GALT7	HP:0002757	Recurrent fractures	1/10	OMIM:130070
11285	B4GALT7	HP:0002756	Pathologic fracture	-	OMIM:259770
11285	B4GALT7	HP:0002756	Pathologic fracture	1/1	OMIM:612394
11285	B4GALT7	HP:0002751	Kyphoscoliosis	-	OMIM:143095
11285	B4GALT7	HP:0002751	Kyphoscoliosis	-	OMIM:259770
11285	B4GALT7	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:75496
11285	B4GALT7	HP:0002750	Delayed skeletal maturation	-	OMIM:143095
11285	B4GALT7	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
11285	B4GALT7	HP:0002007	Frontal bossing	-	OMIM:150250
11285	B4GALT7	HP:0003304	Spondylolysis	-	OMIM:150250
11285	B4GALT7	HP:0003301	Irregular vertebral endplates	-	OMIM:143095
11285	B4GALT7	HP:0011800	Midface retrusion	-	OMIM:130070
11285	B4GALT7	HP:0011800	Midface retrusion	19/20	OMIM:150250
11285	B4GALT7	HP:0002092	Pulmonary arterial hypertension	-	OMIM:143095
11285	B4GALT7	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
11285	B4GALT7	HP:0003388	Easy fatigability	36/76	OMIM:131300
11285	B4GALT7	HP:0010446	Tricuspid stenosis	-	OMIM:143095
11285	B4GALT7	HP:0008127	Bipartite calcaneus	-	OMIM:150250
11285	B4GALT7	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
11285	B4GALT7	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
11285	B4GALT7	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
11285	B4GALT7	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
11285	B4GALT7	HP:0003417	Coronal cleft vertebrae	-	OMIM:143095
11285	B4GALT7	HP:0002194	Delayed gross motor development	-	OMIM:143095
11285	B4GALT7	HP:0002164	Nail dysplasia	1/1	OMIM:612394
11285	B4GALT7	HP:0002176	Spinal cord compression	-	OMIM:150250
11285	B4GALT7	HP:0100490	Camptodactyly of finger	-	OMIM:143095
11285	B4GALT7	HP:0010557	Overlapping fingers	1/2	OMIM:612394
11285	B4GALT7	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
11285	B4GALT7	HP:0010511	Long toe	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0010511	Long toe	-	OMIM:130070
11285	B4GALT7	HP:0010585	Small epiphyses	9/9	OMIM:143095
11285	B4GALT7	HP:0003593	Infantile onset	1/5	OMIM:259770
11285	B4GALT7	HP:0003593	Infantile onset	9/9	OMIM:143095
11285	B4GALT7	HP:0003577	Congenital onset	4/5	OMIM:259770
11285	B4GALT7	HP:0003577	Congenital onset	6/6	OMIM:143095
11285	B4GALT7	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:75496
11285	B4GALT7	HP:0002209	Sparse scalp hair	-	OMIM:130070
11285	B4GALT7	HP:0002208	Coarse hair	1/1	OMIM:612394
11285	B4GALT7	HP:0003510	Severe short stature	7/7	OMIM:615777
11285	B4GALT7	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
11285	B4GALT7	HP:0025019	Arterial rupture	1/1	OMIM:612394
11285	B4GALT7	HP:0002315	Headache	-	OMIM:131300
11285	B4GALT7	HP:0004976	Knee dislocation	16/20	OMIM:150250
11285	B4GALT7	HP:0004976	Knee dislocation	6/6	OMIM:143095
11285	B4GALT7	HP:0004976	Knee dislocation	6/7	OMIM:615777
11285	B4GALT7	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
11285	B4GALT7	HP:0001000	Abnormality of skin pigmentation	HP:0040282	ORPHA:75496
11285	B4GALT7	HP:0001075	Atrophic scars	HP:0040282	ORPHA:75496
11285	B4GALT7	HP:0001075	Atrophic scars	4/32	OMIM:130070
11285	B4GALT7	HP:0009803	Short phalanx of finger	-	OMIM:143095
11285	B4GALT7	HP:0009803	Short phalanx of finger	-	OMIM:615777
11285	B4GALT7	HP:0001089	Iris atrophy	-	OMIM:259770
11285	B4GALT7	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:143095
11285	B4GALT7	HP:0010743	Short metatarsal	-	OMIM:150250
11285	B4GALT7	HP:0009763	Limb pain	63/92	OMIM:131300
11285	B4GALT7	HP:0008434	Hypoplastic cervical vertebrae	-	OMIM:150250
11285	B4GALT7	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
11285	B4GALT7	HP:0003621	Juvenile onset	-	OMIM:131300
11285	B4GALT7	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
11285	B4GALT7	HP:0004942	Aortic aneurysm	-	OMIM:150250
11285	B4GALT7	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
11285	B4GALT7	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
11285	B4GALT7	HP:0004232	Accessory carpal bones	-	OMIM:150250
11285	B4GALT7	HP:6001056	Out-toeing	-	OMIM:131300
11285	B4GALT7	HP:0000651	Diplopia	-	OMIM:131300
11285	B4GALT7	HP:0000618	Blindness	5/5	OMIM:259770
11285	B4GALT7	HP:0001956	Truncal obesity	2/7	OMIM:615777
11285	B4GALT7	HP:0001903	Anemia	HP:0040283	OMIM:131300
11285	B4GALT7	HP:0010049	Short metacarpal	-	OMIM:143095
11285	B4GALT7	HP:0010049	Short metacarpal	-	OMIM:615777
11285	B4GALT7	HP:0010049	Short metacarpal	-	OMIM:150250
11285	B4GALT7	HP:0000684	Delayed eruption of teeth	-	OMIM:143095
11285	B4GALT7	HP:0011342	Mild global developmental delay	HP:0040283	OMIM:130070
11285	B4GALT7	HP:0000678	Dental crowding	-	OMIM:615777
11285	B4GALT7	HP:0000691	Microdontia	-	OMIM:143095
11285	B4GALT7	HP:0000687	Widely spaced teeth	-	OMIM:143095
11285	B4GALT7	HP:0000653	Sparse eyelashes	HP:0040282	ORPHA:75496
11285	B4GALT7	HP:0000670	Carious teeth	-	OMIM:131300
11285	B4GALT7	HP:0011308	Slender toe	-	OMIM:130070
11285	B4GALT7	HP:0011304	Broad thumb	2/7	OMIM:615777
11285	B4GALT7	HP:0000668	Hypodontia	-	OMIM:615777
11285	B4GALT7	HP:0000668	Hypodontia	-	OMIM:150250
11285	B4GALT7	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:75496
11285	B4GALT7	HP:0000667	Phthisis bulbi	-	OMIM:259770
11285	B4GALT7	HP:0000664	Synophrys	-	OMIM:615777
11285	B4GALT7	HP:0004322	Short stature	29/29	OMIM:130070
11285	B4GALT7	HP:0004322	Short stature	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0004322	Short stature	-	OMIM:259770
11285	B4GALT7	HP:0004322	Short stature	15/15	OMIM:143095
11285	B4GALT7	HP:0004322	Short stature	14/20	OMIM:150250
11285	B4GALT7	HP:0005616	Accelerated skeletal maturation	1/32	OMIM:130070
11285	B4GALT7	HP:0003071	Flattened epiphysis	-	OMIM:143095
11285	B4GALT7	HP:0003083	Dislocated radial head	17/31	OMIM:130070
11285	B4GALT7	HP:0003083	Dislocated radial head	6/6	OMIM:143095
11285	B4GALT7	HP:0004396	Poor appetite	-	OMIM:131300
11285	B4GALT7	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
11285	B4GALT7	HP:0003031	Ulnar bowing	-	OMIM:143095
11285	B4GALT7	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
11285	B4GALT7	HP:0003042	Elbow dislocation	-	OMIM:143095
11285	B4GALT7	HP:0003042	Elbow dislocation	13/20	OMIM:150250
11285	B4GALT7	HP:0003040	Arthropathy	-	OMIM:143095
11285	B4GALT7	HP:0003015	Flared metaphysis	4/8	OMIM:130070
11285	B4GALT7	HP:0003016	Metaphyseal widening	-	OMIM:259770
11285	B4GALT7	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
11285	B4GALT7	HP:0003026	Short long bone	7/7	OMIM:615777
11285	B4GALT7	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
11285	B4GALT7	HP:0003022	Hypoplasia of the ulna	-	OMIM:143095
11285	B4GALT7	HP:0000767	Pectus excavatum	-	OMIM:150250
11285	B4GALT7	HP:0000767	Pectus excavatum	2/7	OMIM:615777
11285	B4GALT7	HP:0000768	Pectus carinatum	-	OMIM:130070
11285	B4GALT7	HP:0000768	Pectus carinatum	-	OMIM:150250
11285	B4GALT7	HP:0000768	Pectus carinatum	1/7	OMIM:615777
11285	B4GALT7	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
11285	B4GALT7	HP:0000750	Delayed speech and language development	-	OMIM:615777
11285	B4GALT7	HP:0009179	Deviation of the 5th finger	-	OMIM:143095
11285	B4GALT7	HP:0011461	Fetal onset	7/7	OMIM:615777
11285	B4GALT7	HP:0011461	Fetal onset	2/2	OMIM:612394
11285	B4GALT7	HP:0009125	Lipodystrophy	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0000774	Narrow chest	-	OMIM:130070
11285	B4GALT7	HP:0000774	Narrow chest	2/7	OMIM:615777
11285	B4GALT7	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
11285	B4GALT7	HP:0004425	Flat forehead	-	OMIM:130070
11285	B4GALT7	HP:0003196	Short nose	1/1	OMIM:612394
11285	B4GALT7	HP:0000914	Shield chest	-	OMIM:143095
11285	B4GALT7	HP:0000926	Platyspondyly	-	OMIM:259770
11285	B4GALT7	HP:0000926	Platyspondyly	1/7	OMIM:615777
11285	B4GALT7	HP:0000926	Platyspondyly	1/1	OMIM:612394
11285	B4GALT7	HP:0003184	Decreased hip abduction	-	OMIM:143095
11285	B4GALT7	HP:0003180	Flat acetabular roof	-	OMIM:615777
11285	B4GALT7	HP:0004482	Relative macrocephaly	-	OMIM:615777
11285	B4GALT7	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
11285	B4GALT7	HP:0003093	Limited hip extension	9/9	OMIM:143095
11285	B4GALT7	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
11285	B4GALT7	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:143095
11285	B4GALT7	HP:0000823	Delayed puberty	-	OMIM:131300
11285	B4GALT7	HP:0000894	Short clavicles	-	OMIM:130070
11285	B4GALT7	HP:0000894	Short clavicles	-	OMIM:615777
11285	B4GALT7	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
11285	B4GALT7	HP:0004568	Beaking of vertebral bodies	-	OMIM:150250
11285	B4GALT7	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:75496
11285	B4GALT7	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
11285	B4GALT7	HP:0003298	Spina bifida occulta	-	OMIM:150250
11285	B4GALT7	HP:0045075	Sparse eyebrow	-	OMIM:143095
11285	B4GALT7	HP:0045075	Sparse eyebrow	HP:0040282	ORPHA:75496
11285	B4GALT7	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
11285	B4GALT7	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
11285	B4GALT7	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0000974	Hyperextensible skin	30/32	OMIM:130070
11285	B4GALT7	HP:0000973	Cutis laxa	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0000987	Atypical scarring of skin	HP:0040282	ORPHA:75496
11285	B4GALT7	HP:0000954	Single transverse palmar crease	-	OMIM:130070
11285	B4GALT7	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
11285	B4GALT7	HP:0000963	Thin skin	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0000939	Osteoporosis	4/5	OMIM:259770
11285	B4GALT7	HP:0000938	Osteopenia	6/32	OMIM:130070
11285	B4GALT7	HP:0000938	Osteopenia	1/5	OMIM:259770
11285	B4GALT7	HP:0000938	Osteopenia	1/1	OMIM:612394
11285	B4GALT7	HP:0000938	Osteopenia	HP:0040282	ORPHA:75496
11285	B4GALT7	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
11285	B4GALT7	HP:6000970	Diminished sulfotransferase activity in cultured fibroblasts	2/2	OMIM:143095
11285	B4GALT7	HP:0000286	Epicanthus	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0000286	Epicanthus	1/7	OMIM:615777
11285	B4GALT7	HP:0000280	Coarse facial features	2/7	OMIM:615777
11285	B4GALT7	HP:0000256	Macrocephaly	-	OMIM:130070
11285	B4GALT7	HP:0000256	Macrocephaly	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0000274	Small face	-	OMIM:130070
11285	B4GALT7	HP:0000272	Malar flattening	-	OMIM:150250
11285	B4GALT7	HP:0000272	Malar flattening	1/1	OMIM:612394
11285	B4GALT7	HP:0006471	Fixed elbow flexion	-	OMIM:143095
11285	B4GALT7	HP:0006462	Generalized bone demineralization	-	OMIM:143095
11285	B4GALT7	HP:0007773	Vitreoretinopathy	-	OMIM:259770
11285	B4GALT7	HP:0002816	Genu recurvatum	HP:0040283	OMIM:130070
11285	B4GALT7	HP:0002816	Genu recurvatum	3/6	OMIM:143095
11285	B4GALT7	HP:0002829	Arthralgia	-	OMIM:143095
11285	B4GALT7	HP:0002827	Hip dislocation	16/20	OMIM:150250
11285	B4GALT7	HP:0002827	Hip dislocation	3/7	OMIM:615777
11285	B4GALT7	HP:0002808	Kyphosis	-	OMIM:143095
11285	B4GALT7	HP:0002808	Kyphosis	1/5	OMIM:259770
11285	B4GALT7	HP:0000252	Microcephaly	-	OMIM:259770
11285	B4GALT7	HP:0000252	Microcephaly	-	OMIM:615777
11285	B4GALT7	HP:0001552	Barrel-shaped chest	-	OMIM:143095
11285	B4GALT7	HP:0001552	Barrel-shaped chest	-	OMIM:259770
11285	B4GALT7	HP:0000218	High palate	-	OMIM:143095
11285	B4GALT7	HP:0000230	Gingivitis	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0002857	Genu valgum	-	OMIM:131300
11285	B4GALT7	HP:0002857	Genu valgum	-	OMIM:143095
11285	B4GALT7	HP:0001533	Slender build	-	OMIM:131300
11285	B4GALT7	HP:0000204	Cleft upper lip	-	OMIM:150250
11285	B4GALT7	HP:0001508	Failure to thrive	-	OMIM:130070
11285	B4GALT7	HP:0001511	Intrauterine growth retardation	-	OMIM:150250
11285	B4GALT7	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
11285	B4GALT7	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
11285	B4GALT7	HP:0001510	Growth delay	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0007807	Optic nerve compression	-	OMIM:131300
11285	B4GALT7	HP:0000387	Absent earlobe	-	OMIM:130070
11285	B4GALT7	HP:0012368	Flat face	7/7	OMIM:615777
11285	B4GALT7	HP:0012368	Flat face	1/1	OMIM:612394
11285	B4GALT7	HP:0012368	Flat face	29/32	OMIM:130070
11285	B4GALT7	HP:0012368	Flat face	-	OMIM:150250
11285	B4GALT7	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
11285	B4GALT7	HP:0007875	Congenital blindness	4/5	OMIM:259770
11285	B4GALT7	HP:0007862	Retinal calcification	1/5	OMIM:259770
11285	B4GALT7	HP:0002938	Lumbar hyperlordosis	-	OMIM:143095
11285	B4GALT7	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
11285	B4GALT7	HP:0002948	Vertebral fusion	8/16	OMIM:150250
11285	B4GALT7	HP:0002947	Cervical kyphosis	-	OMIM:150250
11285	B4GALT7	HP:0002945	Intervertebral space narrowing	9/9	OMIM:143095
11285	B4GALT7	HP:0005180	Tricuspid regurgitation	-	OMIM:143095
11285	B4GALT7	HP:0006481	Abnormality of primary teeth	HP:0040283	ORPHA:75496
11285	B4GALT7	HP:0006487	Bowing of the long bones	-	OMIM:130070
11285	B4GALT7	HP:0000365	Hearing impairment	-	OMIM:143095
11285	B4GALT7	HP:0000365	Hearing impairment	10/67	OMIM:131300
11285	B4GALT7	HP:0000365	Hearing impairment	4/19	OMIM:150250
11285	B4GALT7	HP:0000369	Low-set ears	7/10	OMIM:130070
11285	B4GALT7	HP:0000369	Low-set ears	2/2	OMIM:612394
11285	B4GALT7	HP:0000343	Long philtrum	HP:0040282	OMIM:143095
11285	B4GALT7	HP:0000343	Long philtrum	1/7	OMIM:615777
11285	B4GALT7	HP:0011001	Increased bone mineral density	-	OMIM:131300
11285	B4GALT7	HP:0000337	Broad forehead	HP:0040282	OMIM:143095
11285	B4GALT7	HP:0000337	Broad forehead	29/32	OMIM:130070
11285	B4GALT7	HP:0000347	Micrognathia	3/32	OMIM:130070
11285	B4GALT7	HP:0002982	Tibial bowing	1/5	OMIM:259770
11285	B4GALT7	HP:0002982	Tibial bowing	-	OMIM:143095
11285	B4GALT7	HP:0001650	Aortic valve stenosis	-	OMIM:143095
11285	B4GALT7	HP:0001650	Aortic valve stenosis	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0000316	Hypertelorism	28/32	OMIM:130070
11285	B4GALT7	HP:0000316	Hypertelorism	-	OMIM:143095
11285	B4GALT7	HP:0000316	Hypertelorism	-	OMIM:150250
11285	B4GALT7	HP:0000311	Round face	2/7	OMIM:615777
11285	B4GALT7	HP:0001642	Pulmonic stenosis	-	OMIM:143095
11285	B4GALT7	HP:0001642	Pulmonic stenosis	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0002974	Radioulnar synostosis	18/31	OMIM:130070
11285	B4GALT7	HP:0001659	Aortic regurgitation	-	OMIM:143095
11285	B4GALT7	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
11285	B4GALT7	HP:0001653	Mitral regurgitation	-	OMIM:143095
11285	B4GALT7	HP:0001629	Ventricular septal defect	-	OMIM:143095
11285	B4GALT7	HP:0001629	Ventricular septal defect	-	OMIM:259770
11285	B4GALT7	HP:0001629	Ventricular septal defect	-	OMIM:150250
11285	B4GALT7	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
11285	B4GALT7	HP:0001623	Breech presentation	3/6	OMIM:143095
11285	B4GALT7	HP:0002970	Genu varum	-	OMIM:615777
11285	B4GALT7	HP:0000307	Pointed chin	1/2	OMIM:612394
11285	B4GALT7	HP:0002967	Cubitus valgus	-	OMIM:143095
11285	B4GALT7	HP:0001631	Atrial septal defect	-	OMIM:150250
11285	B4GALT7	HP:0000303	Mandibular prognathia	-	OMIM:131300
11285	B4GALT7	HP:0007957	Corneal opacity	-	OMIM:150250
11285	B4GALT7	HP:0006610	Wide intermamillary distance	-	OMIM:143095
11285	B4GALT7	HP:0005328	Progeroid facial appearance	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
11285	B4GALT7	HP:0000405	Conductive hearing impairment	-	OMIM:150250
11285	B4GALT7	HP:0001718	Mitral stenosis	-	OMIM:143095
11285	B4GALT7	HP:0001714	Ventricular hypertrophy	-	OMIM:143095
11285	B4GALT7	HP:0005280	Depressed nasal bridge	-	OMIM:150250
11285	B4GALT7	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
11285	B4GALT7	HP:0000463	Anteverted nares	1/1	OMIM:612394
11285	B4GALT7	HP:0000470	Short neck	-	OMIM:143095
11285	B4GALT7	HP:0000470	Short neck	1/7	OMIM:615777
11285	B4GALT7	HP:0001799	Short nail	-	OMIM:150250
11285	B4GALT7	HP:0001772	Talipes equinovalgus	HP:0040283	OMIM:130070
11285	B4GALT7	HP:0001772	Talipes equinovalgus	-	OMIM:150250
11285	B4GALT7	HP:0001769	Broad foot	HP:0040283	OMIM:615777
11285	B4GALT7	HP:0001763	Pes planus	-	OMIM:143095
11285	B4GALT7	HP:0001763	Pes planus	-	OMIM:130070
11285	B4GALT7	HP:0001763	Pes planus	1/7	OMIM:615777
11285	B4GALT7	HP:0001763	Pes planus	HP:0040281	ORPHA:75496
11285	B4GALT7	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
11285	B4GALT7	HP:0001762	Talipes equinovarus	6/6	OMIM:143095
11285	B4GALT7	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:130070
11285	B4GALT7	HP:0001762	Talipes equinovarus	15/20	OMIM:150250
11285	B4GALT7	HP:0000431	Wide nasal bridge	-	OMIM:130070
11285	B4GALT7	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:75496
11285	B4GALT7	HP:0000518	Cataract	1/5	OMIM:259770
11285	B4GALT7	HP:0000518	Cataract	1/1	OMIM:612394
11285	B4GALT7	HP:0001840	Metatarsus adductus	-	OMIM:615777
11285	B4GALT7	HP:0000520	Proptosis	2/4	OMIM:131300
11285	B4GALT7	HP:0000520	Proptosis	28/30	OMIM:130070
11285	B4GALT7	HP:0000520	Proptosis	7/7	OMIM:615777
11285	B4GALT7	HP:0000506	Telecanthus	HP:0040282	ORPHA:75496
11285	B4GALT7	HP:0000592	Blue sclerae	2/7	OMIM:615777
11285	B4GALT7	HP:0000592	Blue sclerae	6/10	OMIM:130070
11285	B4GALT7	HP:0000586	Shallow orbits	-	OMIM:150250
11285	B4GALT7	HP:0000586	Shallow orbits	1/1	OMIM:612394
11285	B4GALT7	HP:0011220	Prominent forehead	-	OMIM:150250
11285	B4GALT7	HP:0000568	Microphthalmia	1/5	OMIM:259770
11285	B4GALT7	HP:0000540	Hypermetropia	12/29	OMIM:130070
11285	B4GALT7	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
11285	B4GALT7	HP:0012514	Lower limb pain	4/4	OMIM:131300
11285	B4GALT7	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
11285	B4GALT7	HP:0000545	Myopia	1/1	OMIM:612394
11311	VPS45	HP:0001263	Global developmental delay	2/7	OMIM:615285
11311	VPS45	HP:0000007	Autosomal recessive inheritance	-	OMIM:615285
11311	VPS45	HP:0000105	Enlarged kidney	7/7	OMIM:615285
11311	VPS45	HP:0002719	Recurrent infections	7/7	OMIM:615285
11311	VPS45	HP:0002028	Chronic diarrhea	7/7	OMIM:615285
11311	VPS45	HP:0003593	Infantile onset	5/7	OMIM:615285
11311	VPS45	HP:0002240	Hepatomegaly	7/7	OMIM:615285
11311	VPS45	HP:0010702	Increased circulating immunoglobulin concentration	7/7	OMIM:615285
11311	VPS45	HP:0003623	Neonatal onset	2/7	OMIM:615285
11311	VPS45	HP:0001978	Extramedullary hematopoiesis	5/5	OMIM:615285
11311	VPS45	HP:0001903	Anemia	7/7	OMIM:615285
11311	VPS45	HP:0001508	Failure to thrive	7/7	OMIM:615285
11311	VPS45	HP:0001744	Splenomegaly	7/7	OMIM:615285
11311	VPS45	HP:0001882	Decreased total leukocyte count	5/7	OMIM:615285
11311	VPS45	HP:0001873	Thrombocytopenia	7/7	OMIM:615285
11311	VPS45	HP:0001875	Decreased total neutrophil count	7/7	OMIM:615285
11315	PARK7	HP:0025269	Panic attack	HP:0040283	ORPHA:2828
11315	PARK7	HP:0002578	Gastroparesis	HP:0040283	ORPHA:2828
11315	PARK7	HP:0001257	Spasticity	HP:0040283	ORPHA:2828
11315	PARK7	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	4/4	OMIM:606324
11315	PARK7	HP:0001348	Brisk reflexes	3/4	OMIM:606324
11315	PARK7	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2828
11315	PARK7	HP:0001332	Dystonia	HP:0040283	ORPHA:2828
11315	PARK7	HP:0000007	Autosomal recessive inheritance	-	OMIM:606324
11315	PARK7	HP:0001337	Tremor	HP:0040282	ORPHA:2828
11315	PARK7	HP:0002018	Nausea	HP:0040283	ORPHA:2828
11315	PARK7	HP:0002019	Constipation	HP:0040283	ORPHA:2828
11315	PARK7	HP:0040307	Male sexual dysfunction	HP:0040283	ORPHA:2828
11315	PARK7	HP:0002014	Diarrhea	HP:0040283	ORPHA:2828
11315	PARK7	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2828
11315	PARK7	HP:0002067	Bradykinesia	4/4	OMIM:606324
11315	PARK7	HP:0002067	Bradykinesia	HP:0040283	ORPHA:2828
11315	PARK7	HP:0003394	Muscle spasm	HP:0040283	ORPHA:2828
11315	PARK7	HP:0002063	Rigidity	4/4	OMIM:606324
11315	PARK7	HP:0002063	Rigidity	HP:0040281	ORPHA:2828
11315	PARK7	HP:0002141	Gait imbalance	HP:0040283	ORPHA:2828
11315	PARK7	HP:0002174	Postural tremor	3/4	OMIM:606324
11315	PARK7	HP:0002172	Postural instability	HP:0040282	ORPHA:2828
11315	PARK7	HP:0003581	Adult onset	-	OMIM:606324
11315	PARK7	HP:0100710	Impulsivity	HP:0040284	ORPHA:2828
11315	PARK7	HP:0100785	Insomnia	HP:0040283	ORPHA:2828
11315	PARK7	HP:0003677	Slowly progressive	4/4	OMIM:606324
11315	PARK7	HP:0002322	Resting tremor	1/4	OMIM:606324
11315	PARK7	HP:0100660	Dyskinesia	1/2	OMIM:606324
11315	PARK7	HP:0100660	Dyskinesia	HP:0040282	ORPHA:2828
11315	PARK7	HP:0000651	Diplopia	HP:0040284	ORPHA:2828
11315	PARK7	HP:0000643	Blepharospasm	1/4	OMIM:606324
11315	PARK7	HP:0031959	Leg dystonia	1/2	OMIM:606324
11315	PARK7	HP:0000738	Hallucinations	HP:0040282	ORPHA:2828
11315	PARK7	HP:0000739	Anxiety	HP:0040283	ORPHA:2828
11315	PARK7	HP:0000739	Anxiety	2/2	OMIM:606324
11315	PARK7	HP:0000736	Short attention span	HP:0040283	ORPHA:2828
11315	PARK7	HP:0000741	Apathy	HP:0040282	ORPHA:2828
11315	PARK7	HP:0000716	Depression	HP:0040282	ORPHA:2828
11315	PARK7	HP:0000713	Agitation	HP:0040284	ORPHA:2828
11315	PARK7	HP:0000727	Frontal lobe dementia	HP:0040284	ORPHA:2828
11315	PARK7	HP:0000726	Dementia	HP:0040283	ORPHA:2828
11315	PARK7	HP:0000725	Psychotic episodes	1/4	OMIM:606324
11315	PARK7	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:2828
11315	PARK7	HP:0004409	Hyposmia	HP:0040283	ORPHA:2828
11315	PARK7	HP:0030014	Female sexual dysfunction	HP:0040283	ORPHA:2828
11315	PARK7	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:2828
11315	PARK7	HP:0012452	Restless legs	HP:0040283	ORPHA:2828
11315	PARK7	HP:0000551	Color vision defect	HP:0040283	ORPHA:2828
11322	TMC6	HP:0007565	Multiple cafe-au-lait spots	HP:0040282	ORPHA:302
11322	TMC6	HP:0002671	Basal cell carcinoma	-	OMIM:226400
11322	TMC6	HP:0000007	Autosomal recessive inheritance	-	OMIM:226400
11322	TMC6	HP:0002715	Abnormality of the immune system	HP:0040281	ORPHA:302
11322	TMC6	HP:0100585	Telangiectasia of the skin	HP:0040283	ORPHA:302
11322	TMC6	HP:0001051	Seborrheic dermatitis	HP:0040281	ORPHA:302
11322	TMC6	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:302
11322	TMC6	HP:0200035	Skin plaque	HP:0040281	ORPHA:302
11322	TMC6	HP:0200034	Papule	HP:0040281	ORPHA:302
11322	TMC6	HP:0200039	Pustule	HP:0040281	ORPHA:302
11322	TMC6	HP:0200043	Verrucae	HP:0040281	ORPHA:302
11322	TMC6	HP:0200043	Verrucae	-	OMIM:226400
11322	TMC6	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:226400
11322	TMC6	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:302
11322	TMC6	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:302
11330	CTRC	HP:0002570	Steatorrhea	-	OMIM:167800
11330	CTRC	HP:0000006	Autosomal dominant inheritance	-	OMIM:167800
11330	CTRC	HP:0410019	Epigastric pain	HP:0040281	ORPHA:103918
11330	CTRC	HP:0002018	Nausea	HP:0040282	ORPHA:103918
11330	CTRC	HP:0002027	Abdominal pain	-	OMIM:167800
11330	CTRC	HP:0002027	Abdominal pain	HP:0040281	ORPHA:676
11330	CTRC	HP:0030992	Abnormal pancreatic duct morphology	HP:0040282	ORPHA:103918
11330	CTRC	HP:0002013	Vomiting	HP:0040283	ORPHA:103918
11330	CTRC	HP:0008205	Insulin-dependent but ketosis-resistant diabetes	HP:0040282	ORPHA:103918
11330	CTRC	HP:0002202	Pleural effusion	-	OMIM:167800
11330	CTRC	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:103918
11330	CTRC	HP:0001977	Abnormal thrombosis	-	OMIM:167800
11330	CTRC	HP:0001974	Increased total leukocyte count	HP:0040281	ORPHA:676
11330	CTRC	HP:0001945	Fever	-	OMIM:167800
11330	CTRC	HP:0004395	Malnutrition	HP:0040283	ORPHA:103918
11330	CTRC	HP:0100027	Recurrent pancreatitis	HP:0040281	ORPHA:676
11330	CTRC	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:676
11330	CTRC	HP:0000819	Diabetes mellitus	-	OMIM:167800
11330	CTRC	HP:0000952	Jaundice	HP:0040283	ORPHA:103918
11330	CTRC	HP:0000952	Jaundice	HP:0040283	ORPHA:676
11330	CTRC	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040282	ORPHA:676
11330	CTRC	HP:0005236	Chronic calcifying pancreatitis	HP:0040281	ORPHA:103918
11330	CTRC	HP:0005213	Pancreatic calcification	HP:0040281	ORPHA:103918
11330	CTRC	HP:0005213	Pancreatic calcification	HP:0040283	ORPHA:676
11330	CTRC	HP:0005213	Pancreatic calcification	-	OMIM:167800
11330	CTRC	HP:0005206	Pancreatic pseudocyst	-	OMIM:167800
11330	CTRC	HP:0001738	Exocrine pancreatic insufficiency	-	OMIM:167800
11330	CTRC	HP:0001733	Pancreatitis	-	OMIM:167800
11330	CTRC	HP:0030247	Splanchnic vein thrombosis	HP:0040283	ORPHA:676
11330	CTRC	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:103918
11330	CTRC	HP:0001824	Weight loss	HP:0040283	ORPHA:103918
11330	CTRC	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040281	ORPHA:676
11338	U2AF2	HP:0008551	Microtia	1/3	OMIM:620535
11338	U2AF2	HP:0001252	Hypotonia	1/3	OMIM:620535
11338	U2AF2	HP:0001263	Global developmental delay	3/3	OMIM:620535
11338	U2AF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:620535
11338	U2AF2	HP:0002002	Deep philtrum	1/3	OMIM:620535
11338	U2AF2	HP:0002079	Hypoplasia of the corpus callosum	3/3	OMIM:620535
11338	U2AF2	HP:0002072	Chorea	1/3	OMIM:620535
11338	U2AF2	HP:0002188	Delayed CNS myelination	1/3	OMIM:620535
11338	U2AF2	HP:0010544	Vertical nystagmus	1/3	OMIM:620535
11338	U2AF2	HP:0003593	Infantile onset	1/1	OMIM:620535
11338	U2AF2	HP:0003577	Congenital onset	1/1	OMIM:620535
11338	U2AF2	HP:0002395	Lower limb hyperreflexia	1/3	OMIM:620535
11338	U2AF2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2/3	OMIM:620535
11338	U2AF2	HP:0003623	Neonatal onset	1/1	OMIM:620535
11338	U2AF2	HP:0000729	Autistic behavior	0/3	OMIM:620535
11338	U2AF2	HP:0000954	Single transverse palmar crease	1/3	OMIM:620535
11338	U2AF2	HP:0000278	Retrognathia	1/3	OMIM:620535
11338	U2AF2	HP:0000252	Microcephaly	2/2	OMIM:620535
11338	U2AF2	HP:0000369	Low-set ears	1/3	OMIM:620535
11338	U2AF2	HP:0000303	Mandibular prognathia	1/3	OMIM:620535
11338	U2AF2	HP:0005280	Depressed nasal bridge	1/3	OMIM:620535
11338	U2AF2	HP:0001763	Pes planus	1/3	OMIM:620535
11338	U2AF2	HP:0000508	Ptosis	1/3	OMIM:620535
11338	U2AF2	HP:0000582	Upslanted palpebral fissure	1/3	OMIM:620535
11338	U2AF2	HP:0000577	Exotropia	1/3	OMIM:620535
11338	U2AF2	HP:0000574	Thick eyebrow	1/3	OMIM:620535
11340	EXOSC8	HP:0007269	Spinal muscular atrophy	-	OMIM:616081
11340	EXOSC8	HP:0001270	Motor delay	HP:0040281	ORPHA:2254
11340	EXOSC8	HP:0001285	Spastic tetraparesis	8/11	OMIM:616081
11340	EXOSC8	HP:0001250	Seizure	HP:0040283	ORPHA:2254
11340	EXOSC8	HP:0001252	Hypotonia	HP:0040281	ORPHA:2254
11340	EXOSC8	HP:0001251	Ataxia	HP:0040284	ORPHA:2254
11340	EXOSC8	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:2254
11340	EXOSC8	HP:0001263	Global developmental delay	11/11	OMIM:616081
11340	EXOSC8	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2254
11340	EXOSC8	HP:0001257	Spasticity	HP:0040283	ORPHA:2254
11340	EXOSC8	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:2254
11340	EXOSC8	HP:0003819	Death in childhood	-	OMIM:616081
11340	EXOSC8	HP:0001347	Hyperreflexia	1/11	OMIM:616081
11340	EXOSC8	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2254
11340	EXOSC8	HP:0033725	Thin corpus callosum	HP:0040283	ORPHA:2254
11340	EXOSC8	HP:0001324	Muscle weakness	6/11	OMIM:616081
11340	EXOSC8	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2254
11340	EXOSC8	HP:0000007	Autosomal recessive inheritance	-	OMIM:616081
11340	EXOSC8	HP:0001308	Tongue fasciculations	1/11	OMIM:616081
11340	EXOSC8	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:2254
11340	EXOSC8	HP:0001320	Cerebellar vermis hypoplasia	4/8	OMIM:616081
11340	EXOSC8	HP:0012110	Hypoplasia of the pons	HP:0040282	ORPHA:2254
11340	EXOSC8	HP:0002093	Respiratory insufficiency	11/11	OMIM:616081
11340	EXOSC8	HP:0002079	Hypoplasia of the corpus callosum	4/8	OMIM:616081
11340	EXOSC8	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:2254
11340	EXOSC8	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:2254
11340	EXOSC8	HP:0002120	Cerebral cortical atrophy	3/8	OMIM:616081
11340	EXOSC8	HP:0003593	Infantile onset	11/11	OMIM:616081
11340	EXOSC8	HP:0004886	Congenital laryngeal stridor	HP:0040283	ORPHA:2254
11340	EXOSC8	HP:0002280	Enlarged cisterna magna	2/8	OMIM:616081
11340	EXOSC8	HP:0011968	Feeding difficulties	6/11	OMIM:616081
11340	EXOSC8	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2254
11340	EXOSC8	HP:0002398	Degeneration of anterior horn cells	HP:0040281	ORPHA:2254
11340	EXOSC8	HP:0002350	Cerebellar cyst	HP:0040283	ORPHA:2254
11340	EXOSC8	HP:0000639	Nystagmus	HP:0040282	ORPHA:2254
11340	EXOSC8	HP:0000648	Optic atrophy	HP:0040282	ORPHA:2254
11340	EXOSC8	HP:0000737	Irritability	4/11	OMIM:616081
11340	EXOSC8	HP:0003202	Skeletal muscle atrophy	8/11	OMIM:616081
11340	EXOSC8	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:2254
11340	EXOSC8	HP:0034392	Joint contracture	3/11	OMIM:616081
11340	EXOSC8	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	ORPHA:2254
11340	EXOSC8	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:2254
11340	EXOSC8	HP:0002878	Respiratory failure	11/11	OMIM:616081
11340	EXOSC8	HP:0002878	Respiratory failure	HP:0040281	ORPHA:2254
11340	EXOSC8	HP:0001508	Failure to thrive	-	OMIM:616081
11340	EXOSC8	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2254
11340	EXOSC8	HP:0000365	Hearing impairment	9/11	OMIM:616081
11340	EXOSC8	HP:0000486	Strabismus	HP:0040283	ORPHA:2254
11340	EXOSC8	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:2254
11340	EXOSC8	HP:0000505	Visual impairment	9/11	OMIM:616081
11340	EXOSC8	HP:0000565	Esotropia	HP:0040284	ORPHA:2254
11342	RNF13	HP:0001182	Tapered finger	HP:0040283	ORPHA:544503
11342	RNF13	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:544503
11342	RNF13	HP:0100806	Sepsis	HP:0040283	ORPHA:544503
11342	RNF13	HP:0001276	Hypertonia	3/3	OMIM:618379
11342	RNF13	HP:0001276	Hypertonia	HP:0040282	ORPHA:544503
11342	RNF13	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:544503
11342	RNF13	HP:0001250	Seizure	3/3	OMIM:618379
11342	RNF13	HP:0001250	Seizure	HP:0040282	ORPHA:544503
11342	RNF13	HP:0001257	Spasticity	HP:0040282	ORPHA:544503
11342	RNF13	HP:0006070	Metacarpophalangeal joint contracture	HP:0040283	ORPHA:544503
11342	RNF13	HP:0006094	Finger joint hypermobility	HP:0040283	ORPHA:544503
11342	RNF13	HP:0025373	Interictal EEG abnormality	HP:0040282	ORPHA:544503
11342	RNF13	HP:0001371	Flexion contracture	3/3	OMIM:618379
11342	RNF13	HP:0001371	Flexion contracture	HP:0040282	ORPHA:544503
11342	RNF13	HP:0001385	Hip dysplasia	1/3	OMIM:618379
11342	RNF13	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:544503
11342	RNF13	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:544503
11342	RNF13	HP:0000023	Inguinal hernia	2/3	OMIM:618379
11342	RNF13	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:544503
11342	RNF13	HP:0008872	Feeding difficulties in infancy	2/3	OMIM:618379
11342	RNF13	HP:0007514	Edema of the dorsum of hands	HP:0040283	ORPHA:544503
11342	RNF13	HP:0012098	Edema of the dorsum of feet	HP:0040283	ORPHA:544503
11342	RNF13	HP:0000006	Autosomal dominant inheritance	-	OMIM:618379
11342	RNF13	HP:0002650	Scoliosis	3/3	OMIM:618379
11342	RNF13	HP:0002650	Scoliosis	HP:0040282	ORPHA:544503
11342	RNF13	HP:0025405	Visual fixation instability	HP:0040282	ORPHA:544503
11342	RNF13	HP:0002750	Delayed skeletal maturation	1/3	OMIM:618379
11342	RNF13	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:544503
11342	RNF13	HP:0011800	Midface retrusion	1/3	OMIM:618379
11342	RNF13	HP:0011800	Midface retrusion	HP:0040282	ORPHA:544503
11342	RNF13	HP:0002098	Respiratory distress	HP:0040283	ORPHA:544503
11342	RNF13	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:544503
11342	RNF13	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:618379
11342	RNF13	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:544503
11342	RNF13	HP:0002188	Delayed CNS myelination	1/2	OMIM:618379
11342	RNF13	HP:0002187	Intellectual disability, profound	3/3	OMIM:618379
11342	RNF13	HP:0002187	Intellectual disability, profound	HP:0040282	ORPHA:544503
11342	RNF13	HP:0002164	Nail dysplasia	HP:0040283	ORPHA:544503
11342	RNF13	HP:0003577	Congenital onset	3/3	OMIM:618379
11342	RNF13	HP:0100704	Cerebral visual impairment	3/3	OMIM:618379
11342	RNF13	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:544503
11342	RNF13	HP:0200134	Epileptic encephalopathy	-	OMIM:618379
11342	RNF13	HP:0200134	Epileptic encephalopathy	HP:0040282	ORPHA:544503
11342	RNF13	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:544503
11342	RNF13	HP:0010845	EEG with generalized slow activity	HP:0040282	ORPHA:544503
11342	RNF13	HP:0000668	Hypodontia	HP:0040283	ORPHA:544503
11342	RNF13	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:544503
11342	RNF13	HP:0000737	Irritability	2/3	OMIM:618379
11342	RNF13	HP:0000737	Irritability	HP:0040282	ORPHA:544503
11342	RNF13	HP:0000711	Restlessness	3/3	OMIM:618379
11342	RNF13	HP:0000711	Restlessness	HP:0040282	ORPHA:544503
11342	RNF13	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040282	ORPHA:544503
11342	RNF13	HP:0011432	Elevated maternal circulating alpha-fetoprotein concentration	HP:0040283	ORPHA:544503
11342	RNF13	HP:0040126	Abnormal circulating vitamin B12 concentration	HP:0040283	ORPHA:544503
11342	RNF13	HP:0003196	Short nose	1/3	OMIM:618379
11342	RNF13	HP:0003196	Short nose	HP:0040282	ORPHA:544503
11342	RNF13	HP:0005072	Wrist hypermobility	HP:0040283	ORPHA:544503
11342	RNF13	HP:0000252	Microcephaly	-	OMIM:618379
11342	RNF13	HP:0000252	Microcephaly	HP:0040282	ORPHA:544503
11342	RNF13	HP:0001508	Failure to thrive	3/3	OMIM:618379
11342	RNF13	HP:0001508	Failure to thrive	HP:0040282	ORPHA:544503
11342	RNF13	HP:0000341	Narrow forehead	1/3	OMIM:618379
11342	RNF13	HP:0000341	Narrow forehead	HP:0040282	ORPHA:544503
11342	RNF13	HP:0000331	Short chin	1/3	OMIM:618379
11342	RNF13	HP:0000331	Short chin	HP:0040282	ORPHA:544503
11342	RNF13	HP:0011185	EEG with focal epileptiform discharges	HP:0040282	ORPHA:544503
11342	RNF13	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:618379
11342	RNF13	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:544503
11342	RNF13	HP:0012469	Infantile spasms	HP:0040283	ORPHA:544503
11342	RNF13	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:544503
11342	RNF13	HP:0012448	Delayed myelination	HP:0040283	ORPHA:544503
11342	RNF13	HP:0000446	Narrow nasal bridge	1/3	OMIM:618379
11342	RNF13	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:544503
11342	RNF13	HP:0000518	Cataract	1/3	OMIM:618379
11342	RNF13	HP:0000518	Cataract	HP:0040283	ORPHA:544503
22796	COG2	HP:0001252	Hypotonia	0/1	OMIM:617395
22796	COG2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:435934
22796	COG2	HP:0001263	Global developmental delay	1/1	OMIM:617395
22796	COG2	HP:0002510	Spastic tetraplegia	1/1	OMIM:617395
22796	COG2	HP:0002510	Spastic tetraplegia	HP:0040282	ORPHA:435934
22796	COG2	HP:0002506	Diffuse cerebral atrophy	1/1	OMIM:617395
22796	COG2	HP:0002506	Diffuse cerebral atrophy	HP:0040282	ORPHA:435934
22796	COG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617395
22796	COG2	HP:0001410	Decreased liver function	HP:0040282	ORPHA:435934
22796	COG2	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:617395
22796	COG2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:435934
22796	COG2	HP:0003593	Infantile onset	1/1	OMIM:617395
22796	COG2	HP:0011967	Decreased circulating copper concentration	HP:0040282	ORPHA:435934
22796	COG2	HP:0011967	Decreased circulating copper concentration	1/1	OMIM:617395
22796	COG2	HP:0002361	Psychomotor deterioration	HP:0040282	ORPHA:435934
22796	COG2	HP:0010837	Decreased circulating ceruloplasmin concentration	HP:0040282	ORPHA:435934
22796	COG2	HP:0010837	Decreased circulating ceruloplasmin concentration	1/1	OMIM:617395
22796	COG2	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:435934
22796	COG2	HP:0010818	Generalized tonic seizure	1/1	OMIM:617395
22796	COG2	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:435934
22796	COG2	HP:0003256	Abnormality of the coagulation cascade	HP:0040282	ORPHA:435934
22796	COG2	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:617395
22796	COG2	HP:0012345	Abnormal glycosylation	1/1	OMIM:617395
22796	COG2	HP:0005484	Secondary microcephaly	1/1	OMIM:617395
22796	COG2	HP:0005484	Secondary microcephaly	HP:0040282	ORPHA:435934
22796	COG2	HP:0012506	Small pituitary gland	HP:0040282	ORPHA:435934
22796	COG2	HP:0012506	Small pituitary gland	1/1	OMIM:617395
22800	RRAS2	HP:0001156	Brachydactyly	HP:0040283	ORPHA:648
22800	RRAS2	HP:0010946	Dilatation of the renal pelvis	HP:0040283	ORPHA:648
22800	RRAS2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
22800	RRAS2	HP:0001293	Cranial nerve compression	-	OMIM:131300
22800	RRAS2	HP:0001270	Motor delay	2/9	OMIM:618624
22800	RRAS2	HP:0001252	Hypotonia	1/9	OMIM:618624
22800	RRAS2	HP:0001252	Hypotonia	HP:0040282	ORPHA:648
22800	RRAS2	HP:0001252	Hypotonia	2/7	OMIM:615777
22800	RRAS2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:648
22800	RRAS2	HP:0001249	Intellectual disability	5/7	OMIM:615777
22800	RRAS2	HP:0001260	Dysarthria	HP:0040281	ORPHA:648
22800	RRAS2	HP:0001263	Global developmental delay	-	OMIM:615777
22800	RRAS2	HP:0002515	Waddling gait	54/102	OMIM:131300
22800	RRAS2	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:648
22800	RRAS2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:648
22800	RRAS2	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:648
22800	RRAS2	HP:0001382	Joint hypermobility	-	OMIM:615777
22800	RRAS2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
22800	RRAS2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:648
22800	RRAS2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
22800	RRAS2	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:648
22800	RRAS2	HP:0008872	Feeding difficulties in infancy	3/6	OMIM:618624
22800	RRAS2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:648
22800	RRAS2	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:648
22800	RRAS2	HP:0001328	Specific learning disability	HP:0040283	ORPHA:648
22800	RRAS2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
22800	RRAS2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:648
22800	RRAS2	HP:0001324	Muscle weakness	40/96	OMIM:131300
22800	RRAS2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
22800	RRAS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
22800	RRAS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
22800	RRAS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618624
22800	RRAS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
22800	RRAS2	HP:0002650	Scoliosis	HP:0040282	ORPHA:648
22800	RRAS2	HP:0002650	Scoliosis	12/14	OMIM:131300
22800	RRAS2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
22800	RRAS2	HP:0002619	Varicose veins	-	OMIM:153400
22800	RRAS2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
22800	RRAS2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
22800	RRAS2	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:648
22800	RRAS2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
22800	RRAS2	HP:0000175	Cleft palate	5/39	OMIM:153400
22800	RRAS2	HP:0000175	Cleft palate	2/7	OMIM:615777
22800	RRAS2	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:648
22800	RRAS2	HP:0011800	Midface retrusion	HP:0040281	ORPHA:648
22800	RRAS2	HP:0003388	Easy fatigability	36/76	OMIM:131300
22800	RRAS2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
22800	RRAS2	HP:0002119	Ventriculomegaly	1/9	OMIM:618624
22800	RRAS2	HP:0003416	Spinal canal stenosis	1/9	OMIM:618624
22800	RRAS2	HP:0009623	Proximal placement of thumb	1/9	OMIM:618624
22800	RRAS2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:648
22800	RRAS2	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:648
22800	RRAS2	HP:0011869	Abnormal platelet function	HP:0040282	ORPHA:648
22800	RRAS2	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:648
22800	RRAS2	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
22800	RRAS2	HP:0002208	Coarse hair	HP:0040282	ORPHA:648
22800	RRAS2	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:648
22800	RRAS2	HP:0009743	Distichiasis	42/42	OMIM:153400
22800	RRAS2	HP:0003510	Severe short stature	7/7	OMIM:615777
22800	RRAS2	HP:0001047	Atopic dermatitis	1/9	OMIM:618624
22800	RRAS2	HP:0001004	Lymphedema	HP:0040283	ORPHA:648
22800	RRAS2	HP:0001004	Lymphedema	-	OMIM:153400
22800	RRAS2	HP:0002315	Headache	-	OMIM:131300
22800	RRAS2	HP:0004976	Knee dislocation	6/7	OMIM:615777
22800	RRAS2	HP:0100658	Cellulitis	2/6	OMIM:153400
22800	RRAS2	HP:0001076	Glabellar hemangioma	2/9	OMIM:618624
22800	RRAS2	HP:0100625	Enlarged thorax	HP:0040281	ORPHA:648
22800	RRAS2	HP:0009803	Short phalanx of finger	-	OMIM:615777
22800	RRAS2	HP:0009763	Limb pain	63/92	OMIM:131300
22800	RRAS2	HP:0002308	Chiari malformation	1/9	OMIM:618624
22800	RRAS2	HP:0003621	Juvenile onset	-	OMIM:131300
22800	RRAS2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
22800	RRAS2	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:648
22800	RRAS2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
22800	RRAS2	HP:0000639	Nystagmus	HP:0040283	ORPHA:648
22800	RRAS2	HP:0000635	Blue irides	HP:0040282	ORPHA:648
22800	RRAS2	HP:6001056	Out-toeing	-	OMIM:131300
22800	RRAS2	HP:0000651	Diplopia	-	OMIM:131300
22800	RRAS2	HP:0000646	Amblyopia	1/9	OMIM:618624
22800	RRAS2	HP:0000613	Photophobia	10/49	OMIM:153400
22800	RRAS2	HP:0001956	Truncal obesity	2/7	OMIM:615777
22800	RRAS2	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:648
22800	RRAS2	HP:0001903	Anemia	HP:0040283	OMIM:131300
22800	RRAS2	HP:0010049	Short metacarpal	-	OMIM:615777
22800	RRAS2	HP:0011381	Aplasia of the semicircular canal	HP:0040283	ORPHA:648
22800	RRAS2	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
22800	RRAS2	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:648
22800	RRAS2	HP:0011342	Mild global developmental delay	1/9	OMIM:618624
22800	RRAS2	HP:0000678	Dental crowding	-	OMIM:615777
22800	RRAS2	HP:0000656	Ectropion	2/43	OMIM:153400
22800	RRAS2	HP:0000670	Carious teeth	-	OMIM:131300
22800	RRAS2	HP:0011304	Broad thumb	2/7	OMIM:615777
22800	RRAS2	HP:0000668	Hypodontia	-	OMIM:615777
22800	RRAS2	HP:0000664	Synophrys	-	OMIM:615777
22800	RRAS2	HP:0004322	Short stature	HP:0040281	ORPHA:648
22800	RRAS2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:648
22800	RRAS2	HP:0004381	Supravalvular aortic stenosis	1/9	OMIM:618624
22800	RRAS2	HP:0004396	Poor appetite	-	OMIM:131300
22800	RRAS2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
22800	RRAS2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
22800	RRAS2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
22800	RRAS2	HP:0003011	Abnormality of the musculature	-	OMIM:153400
22800	RRAS2	HP:0003026	Short long bone	7/7	OMIM:615777
22800	RRAS2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
22800	RRAS2	HP:0000767	Pectus excavatum	1/9	OMIM:618624
22800	RRAS2	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:648
22800	RRAS2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
22800	RRAS2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
22800	RRAS2	HP:0000768	Pectus carinatum	HP:0040281	ORPHA:648
22800	RRAS2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
22800	RRAS2	HP:0000750	Delayed speech and language development	-	OMIM:615777
22800	RRAS2	HP:0011461	Fetal onset	7/7	OMIM:615777
22800	RRAS2	HP:0000774	Narrow chest	2/7	OMIM:615777
22800	RRAS2	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:648
22800	RRAS2	HP:0003115	Abnormal EKG	HP:0040281	ORPHA:648
22800	RRAS2	HP:0004415	Pulmonary artery stenosis	HP:0040281	ORPHA:648
22800	RRAS2	HP:0000926	Platyspondyly	1/7	OMIM:615777
22800	RRAS2	HP:0003180	Flat acetabular roof	-	OMIM:615777
22800	RRAS2	HP:0004482	Relative macrocephaly	-	OMIM:615777
22800	RRAS2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
22800	RRAS2	HP:0000878	11 pairs of ribs	1/9	OMIM:618624
22800	RRAS2	HP:0012804	Corneal ulceration	-	OMIM:153400
22800	RRAS2	HP:0000824	Decreased response to growth hormone stimulation test	1/9	OMIM:618624
22800	RRAS2	HP:0000823	Delayed puberty	-	OMIM:131300
22800	RRAS2	HP:0000894	Short clavicles	-	OMIM:615777
22800	RRAS2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
22800	RRAS2	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:648
22800	RRAS2	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:648
22800	RRAS2	HP:0010310	Chylothorax	1/6	OMIM:153400
22800	RRAS2	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:648
22800	RRAS2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
22800	RRAS2	HP:0000938	Osteopenia	HP:0040283	ORPHA:648
22800	RRAS2	HP:0011675	Arrhythmia	-	OMIM:153400
22800	RRAS2	HP:0011675	Arrhythmia	HP:0040282	ORPHA:648
22800	RRAS2	HP:0000286	Epicanthus	1/7	OMIM:615777
22800	RRAS2	HP:0000280	Coarse facial features	2/7	OMIM:615777
22800	RRAS2	HP:0002827	Hip dislocation	3/7	OMIM:615777
22800	RRAS2	HP:0002808	Kyphosis	2/5	OMIM:153400
22800	RRAS2	HP:0000252	Microcephaly	-	OMIM:615777
22800	RRAS2	HP:0012209	Juvenile myelomonocytic leukemia	HP:0040283	ORPHA:648
22800	RRAS2	HP:0000218	High palate	HP:0040281	ORPHA:648
22800	RRAS2	HP:0001545	Anteriorly placed anus	1/9	OMIM:618624
22800	RRAS2	HP:0001561	Polyhydramnios	3/6	OMIM:618624
22800	RRAS2	HP:0002857	Genu valgum	-	OMIM:131300
22800	RRAS2	HP:0001533	Slender build	-	OMIM:131300
22800	RRAS2	HP:0000204	Cleft upper lip	-	OMIM:153400
22800	RRAS2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
22800	RRAS2	HP:0007807	Optic nerve compression	-	OMIM:131300
22800	RRAS2	HP:0012368	Flat face	7/7	OMIM:615777
22800	RRAS2	HP:0000391	Thickened helices	HP:0040281	ORPHA:648
22800	RRAS2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
22800	RRAS2	HP:0000365	Hearing impairment	10/67	OMIM:131300
22800	RRAS2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:648
22800	RRAS2	HP:0000343	Long philtrum	1/7	OMIM:615777
22800	RRAS2	HP:0011001	Increased bone mineral density	-	OMIM:131300
22800	RRAS2	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:648
22800	RRAS2	HP:0000348	High forehead	HP:0040281	ORPHA:648
22800	RRAS2	HP:0000347	Micrognathia	2/5	OMIM:153400
22800	RRAS2	HP:0000347	Micrognathia	HP:0040281	ORPHA:648
22800	RRAS2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:648
22800	RRAS2	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:648
22800	RRAS2	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
22800	RRAS2	HP:0000311	Round face	2/7	OMIM:615777
22800	RRAS2	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:648
22800	RRAS2	HP:0000325	Triangular face	HP:0040281	ORPHA:648
22800	RRAS2	HP:0001629	Ventricular septal defect	3/9	OMIM:618624
22800	RRAS2	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
22800	RRAS2	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:648
22800	RRAS2	HP:0002970	Genu varum	-	OMIM:615777
22800	RRAS2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:648
22800	RRAS2	HP:0001636	Tetralogy of Fallot	1/9	OMIM:618624
22800	RRAS2	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
22800	RRAS2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:648
22800	RRAS2	HP:0000303	Mandibular prognathia	-	OMIM:131300
22800	RRAS2	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:648
22800	RRAS2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:648
22800	RRAS2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
22800	RRAS2	HP:0000486	Strabismus	3/9	OMIM:618624
22800	RRAS2	HP:0000486	Strabismus	HP:0040282	ORPHA:648
22800	RRAS2	HP:0000476	Cystic hygroma	HP:0040281	ORPHA:648
22800	RRAS2	HP:0000476	Cystic hygroma	2/43	OMIM:153400
22800	RRAS2	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
22800	RRAS2	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:648
22800	RRAS2	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
22800	RRAS2	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:648
22800	RRAS2	HP:0000470	Short neck	1/7	OMIM:615777
22800	RRAS2	HP:0000465	Webbed neck	HP:0040281	ORPHA:648
22800	RRAS2	HP:0000465	Webbed neck	6/43	OMIM:153400
22800	RRAS2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
22800	RRAS2	HP:0001763	Pes planus	1/7	OMIM:615777
22800	RRAS2	HP:0001743	Abnormality of the spleen	HP:0040282	ORPHA:648
22800	RRAS2	HP:0001840	Metatarsus adductus	-	OMIM:615777
22800	RRAS2	HP:0000520	Proptosis	2/4	OMIM:131300
22800	RRAS2	HP:0000520	Proptosis	7/7	OMIM:615777
22800	RRAS2	HP:0000520	Proptosis	HP:0040281	ORPHA:648
22800	RRAS2	HP:0000509	Conjunctivitis	-	OMIM:153400
22800	RRAS2	HP:0000508	Ptosis	2/39	OMIM:153400
22800	RRAS2	HP:0000508	Ptosis	HP:0040281	ORPHA:648
22800	RRAS2	HP:0012569	Delayed menarche	HP:0040283	ORPHA:648
22800	RRAS2	HP:0000592	Blue sclerae	2/7	OMIM:615777
22800	RRAS2	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:648
22800	RRAS2	HP:0001888	Decreased total lymphocyte count	1/9	OMIM:618624
22800	RRAS2	HP:0000568	Microphthalmia	1/6	OMIM:153400
22800	RRAS2	HP:0000565	Esotropia	1/9	OMIM:618624
22800	RRAS2	HP:0000540	Hypermetropia	1/9	OMIM:618624
22800	RRAS2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
22800	RRAS2	HP:0012514	Lower limb pain	4/4	OMIM:131300
22800	RRAS2	HP:0001873	Thrombocytopenia	1/9	OMIM:618624
22802	CLCA4	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
22802	CLCA4	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
22802	CLCA4	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
22802	CLCA4	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
22802	CLCA4	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
22802	CLCA4	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
22802	CLCA4	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
22802	CLCA4	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
22802	CLCA4	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
22802	CLCA4	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
22802	CLCA4	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
22802	CLCA4	HP:0002099	Asthma	HP:0040283	ORPHA:586
22802	CLCA4	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
22802	CLCA4	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
22802	CLCA4	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
22802	CLCA4	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
22802	CLCA4	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
22802	CLCA4	HP:0000739	Anxiety	HP:0040283	ORPHA:586
22802	CLCA4	HP:0000716	Depression	HP:0040283	ORPHA:586
22802	CLCA4	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
22802	CLCA4	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
22802	CLCA4	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
22802	CLCA4	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
22802	CLCA4	HP:0003251	Male infertility	HP:0040282	ORPHA:586
22802	CLCA4	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
22802	CLCA4	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
22802	CLCA4	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
22802	CLCA4	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
22802	CLCA4	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
22802	CLCA4	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
22802	CLCA4	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
22802	CLCA4	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
22802	CLCA4	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
22802	CLCA4	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
22802	CLCA4	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
22806	IKZF3	HP:0010976	Decreased total B cell count	3/3	OMIM:619437
22806	IKZF3	HP:0000006	Autosomal dominant inheritance	-	OMIM:619437
22806	IKZF3	HP:0012191	B-cell lymphoma	2/3	OMIM:619437
22806	IKZF3	HP:0002718	Recurrent bacterial infections	2/3	OMIM:619437
22806	IKZF3	HP:0020072	Persistent EBV viremia	1/3	OMIM:619437
22806	IKZF3	HP:0009789	Perianal abscess	1/3	OMIM:619437
22806	IKZF3	HP:0001744	Splenomegaly	1/3	OMIM:619437
22808	MRAS	HP:0001156	Brachydactyly	HP:0040283	ORPHA:648
22808	MRAS	HP:0010946	Dilatation of the renal pelvis	HP:0040283	ORPHA:648
22808	MRAS	HP:0008619	Bilateral sensorineural hearing impairment	1/1	OMIM:618499
22808	MRAS	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
22808	MRAS	HP:0001293	Cranial nerve compression	-	OMIM:131300
22808	MRAS	HP:0001252	Hypotonia	HP:0040282	ORPHA:648
22808	MRAS	HP:0001252	Hypotonia	1/2	OMIM:618499
22808	MRAS	HP:0001252	Hypotonia	2/7	OMIM:615777
22808	MRAS	HP:0001249	Intellectual disability	HP:0040283	ORPHA:648
22808	MRAS	HP:0001249	Intellectual disability	5/7	OMIM:615777
22808	MRAS	HP:0001260	Dysarthria	HP:0040281	ORPHA:648
22808	MRAS	HP:0001263	Global developmental delay	3/3	OMIM:618499
22808	MRAS	HP:0001263	Global developmental delay	-	OMIM:615777
22808	MRAS	HP:0002515	Waddling gait	54/102	OMIM:131300
22808	MRAS	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:648
22808	MRAS	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:648
22808	MRAS	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:648
22808	MRAS	HP:0001382	Joint hypermobility	-	OMIM:615777
22808	MRAS	HP:0002694	Sclerosis of skull base	-	OMIM:131300
22808	MRAS	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:648
22808	MRAS	HP:0008897	Postnatal growth retardation	-	OMIM:615777
22808	MRAS	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:648
22808	MRAS	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:618499
22808	MRAS	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:648
22808	MRAS	HP:0007517	Palmoplantar cutis laxa	1/2	OMIM:618499
22808	MRAS	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:648
22808	MRAS	HP:0001328	Specific learning disability	HP:0040283	ORPHA:648
22808	MRAS	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
22808	MRAS	HP:0001324	Muscle weakness	HP:0040281	ORPHA:648
22808	MRAS	HP:0001324	Muscle weakness	40/96	OMIM:131300
22808	MRAS	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
22808	MRAS	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
22808	MRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
22808	MRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
22808	MRAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:618499
22808	MRAS	HP:0002650	Scoliosis	HP:0040282	ORPHA:648
22808	MRAS	HP:0002650	Scoliosis	12/14	OMIM:131300
22808	MRAS	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
22808	MRAS	HP:0002619	Varicose veins	-	OMIM:153400
22808	MRAS	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
22808	MRAS	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
22808	MRAS	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:648
22808	MRAS	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
22808	MRAS	HP:0000175	Cleft palate	5/39	OMIM:153400
22808	MRAS	HP:0000175	Cleft palate	2/7	OMIM:615777
22808	MRAS	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:648
22808	MRAS	HP:0011800	Midface retrusion	HP:0040281	ORPHA:648
22808	MRAS	HP:0003388	Easy fatigability	36/76	OMIM:131300
22808	MRAS	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
22808	MRAS	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:648
22808	MRAS	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:648
22808	MRAS	HP:0011869	Abnormal platelet function	HP:0040282	ORPHA:648
22808	MRAS	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:648
22808	MRAS	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
22808	MRAS	HP:0002208	Coarse hair	HP:0040282	ORPHA:648
22808	MRAS	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:648
22808	MRAS	HP:0009743	Distichiasis	42/42	OMIM:153400
22808	MRAS	HP:0003510	Severe short stature	7/7	OMIM:615777
22808	MRAS	HP:0001004	Lymphedema	HP:0040283	ORPHA:648
22808	MRAS	HP:0001004	Lymphedema	-	OMIM:153400
22808	MRAS	HP:0002315	Headache	-	OMIM:131300
22808	MRAS	HP:0004976	Knee dislocation	6/7	OMIM:615777
22808	MRAS	HP:0100658	Cellulitis	2/6	OMIM:153400
22808	MRAS	HP:0100625	Enlarged thorax	HP:0040281	ORPHA:648
22808	MRAS	HP:0009803	Short phalanx of finger	-	OMIM:615777
22808	MRAS	HP:0009763	Limb pain	63/92	OMIM:131300
22808	MRAS	HP:0003621	Juvenile onset	-	OMIM:131300
22808	MRAS	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
22808	MRAS	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:648
22808	MRAS	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
22808	MRAS	HP:0000639	Nystagmus	HP:0040283	ORPHA:648
22808	MRAS	HP:0000635	Blue irides	HP:0040282	ORPHA:648
22808	MRAS	HP:6001056	Out-toeing	-	OMIM:131300
22808	MRAS	HP:0000651	Diplopia	-	OMIM:131300
22808	MRAS	HP:0000613	Photophobia	10/49	OMIM:153400
22808	MRAS	HP:0001956	Truncal obesity	2/7	OMIM:615777
22808	MRAS	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:648
22808	MRAS	HP:0001903	Anemia	HP:0040283	OMIM:131300
22808	MRAS	HP:0010049	Short metacarpal	-	OMIM:615777
22808	MRAS	HP:0011381	Aplasia of the semicircular canal	HP:0040283	ORPHA:648
22808	MRAS	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
22808	MRAS	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:648
22808	MRAS	HP:0000678	Dental crowding	-	OMIM:615777
22808	MRAS	HP:0000656	Ectropion	2/43	OMIM:153400
22808	MRAS	HP:0000670	Carious teeth	-	OMIM:131300
22808	MRAS	HP:0011304	Broad thumb	2/7	OMIM:615777
22808	MRAS	HP:0000668	Hypodontia	-	OMIM:615777
22808	MRAS	HP:0000664	Synophrys	-	OMIM:615777
22808	MRAS	HP:0004322	Short stature	HP:0040281	ORPHA:648
22808	MRAS	HP:0004322	Short stature	2/3	OMIM:618499
22808	MRAS	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:648
22808	MRAS	HP:0004396	Poor appetite	-	OMIM:131300
22808	MRAS	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
22808	MRAS	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
22808	MRAS	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
22808	MRAS	HP:0003011	Abnormality of the musculature	-	OMIM:153400
22808	MRAS	HP:0003026	Short long bone	7/7	OMIM:615777
22808	MRAS	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
22808	MRAS	HP:0031936	Delayed ability to walk	1/1	OMIM:618499
22808	MRAS	HP:0000767	Pectus excavatum	1/2	OMIM:618499
22808	MRAS	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:648
22808	MRAS	HP:0000767	Pectus excavatum	2/7	OMIM:615777
22808	MRAS	HP:0000768	Pectus carinatum	1/7	OMIM:615777
22808	MRAS	HP:0000768	Pectus carinatum	HP:0040281	ORPHA:648
22808	MRAS	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
22808	MRAS	HP:0000750	Delayed speech and language development	1/1	OMIM:618499
22808	MRAS	HP:0000750	Delayed speech and language development	-	OMIM:615777
22808	MRAS	HP:0011461	Fetal onset	7/7	OMIM:615777
22808	MRAS	HP:0000774	Narrow chest	2/7	OMIM:615777
22808	MRAS	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:648
22808	MRAS	HP:0003115	Abnormal EKG	HP:0040281	ORPHA:648
22808	MRAS	HP:0004415	Pulmonary artery stenosis	HP:0040281	ORPHA:648
22808	MRAS	HP:0000926	Platyspondyly	1/7	OMIM:615777
22808	MRAS	HP:0003180	Flat acetabular roof	-	OMIM:615777
22808	MRAS	HP:0004482	Relative macrocephaly	-	OMIM:615777
22808	MRAS	HP:0004482	Relative macrocephaly	1/1	OMIM:618499
22808	MRAS	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
22808	MRAS	HP:0012804	Corneal ulceration	-	OMIM:153400
22808	MRAS	HP:0000823	Delayed puberty	-	OMIM:131300
22808	MRAS	HP:0000894	Short clavicles	-	OMIM:615777
22808	MRAS	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
22808	MRAS	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:648
22808	MRAS	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:648
22808	MRAS	HP:0010310	Chylothorax	1/6	OMIM:153400
22808	MRAS	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:648
22808	MRAS	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
22808	MRAS	HP:0000938	Osteopenia	HP:0040283	ORPHA:648
22808	MRAS	HP:0011675	Arrhythmia	-	OMIM:153400
22808	MRAS	HP:0011675	Arrhythmia	HP:0040282	ORPHA:648
22808	MRAS	HP:0000286	Epicanthus	1/7	OMIM:615777
22808	MRAS	HP:0000280	Coarse facial features	2/7	OMIM:615777
22808	MRAS	HP:0000276	Long face	1/2	OMIM:618499
22808	MRAS	HP:0002827	Hip dislocation	3/7	OMIM:615777
22808	MRAS	HP:0002808	Kyphosis	2/5	OMIM:153400
22808	MRAS	HP:0000252	Microcephaly	-	OMIM:615777
22808	MRAS	HP:0012209	Juvenile myelomonocytic leukemia	HP:0040283	ORPHA:648
22808	MRAS	HP:0000218	High palate	HP:0040281	ORPHA:648
22808	MRAS	HP:0002857	Genu valgum	-	OMIM:131300
22808	MRAS	HP:0001533	Slender build	-	OMIM:131300
22808	MRAS	HP:0000204	Cleft upper lip	-	OMIM:153400
22808	MRAS	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
22808	MRAS	HP:0007807	Optic nerve compression	-	OMIM:131300
22808	MRAS	HP:0012368	Flat face	7/7	OMIM:615777
22808	MRAS	HP:0000391	Thickened helices	HP:0040281	ORPHA:648
22808	MRAS	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
22808	MRAS	HP:0000365	Hearing impairment	10/67	OMIM:131300
22808	MRAS	HP:0000358	Posteriorly rotated ears	2/2	OMIM:618499
22808	MRAS	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:648
22808	MRAS	HP:0000369	Low-set ears	3/3	OMIM:618499
22808	MRAS	HP:0000343	Long philtrum	1/7	OMIM:615777
22808	MRAS	HP:0011001	Increased bone mineral density	-	OMIM:131300
22808	MRAS	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:648
22808	MRAS	HP:0000348	High forehead	1/2	OMIM:618499
22808	MRAS	HP:0000348	High forehead	HP:0040281	ORPHA:648
22808	MRAS	HP:0000347	Micrognathia	2/5	OMIM:153400
22808	MRAS	HP:0000347	Micrognathia	HP:0040281	ORPHA:648
22808	MRAS	HP:0000316	Hypertelorism	1/1	OMIM:618499
22808	MRAS	HP:0000316	Hypertelorism	HP:0040281	ORPHA:648
22808	MRAS	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:648
22808	MRAS	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
22808	MRAS	HP:0000311	Round face	2/7	OMIM:615777
22808	MRAS	HP:0001642	Pulmonic stenosis	1/2	OMIM:618499
22808	MRAS	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:648
22808	MRAS	HP:0000325	Triangular face	HP:0040281	ORPHA:648
22808	MRAS	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
22808	MRAS	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:648
22808	MRAS	HP:0002970	Genu varum	-	OMIM:615777
22808	MRAS	HP:0001639	Hypertrophic cardiomyopathy	2/3	OMIM:618499
22808	MRAS	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:648
22808	MRAS	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
22808	MRAS	HP:0000307	Pointed chin	1/2	OMIM:618499
22808	MRAS	HP:0001631	Atrial septal defect	1/2	OMIM:618499
22808	MRAS	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:648
22808	MRAS	HP:0000303	Mandibular prognathia	-	OMIM:131300
22808	MRAS	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:648
22808	MRAS	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:648
22808	MRAS	HP:0005280	Depressed nasal bridge	1/1	OMIM:618499
22808	MRAS	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
22808	MRAS	HP:0000486	Strabismus	HP:0040282	ORPHA:648
22808	MRAS	HP:0012471	Thick vermilion border	1/1	OMIM:618499
22808	MRAS	HP:0000476	Cystic hygroma	HP:0040281	ORPHA:648
22808	MRAS	HP:0000476	Cystic hygroma	2/43	OMIM:153400
22808	MRAS	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
22808	MRAS	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:618499
22808	MRAS	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:648
22808	MRAS	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
22808	MRAS	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:648
22808	MRAS	HP:0000470	Short neck	1/7	OMIM:615777
22808	MRAS	HP:0000465	Webbed neck	HP:0040281	ORPHA:648
22808	MRAS	HP:0000465	Webbed neck	6/43	OMIM:153400
22808	MRAS	HP:0001769	Broad foot	HP:0040283	OMIM:615777
22808	MRAS	HP:0001763	Pes planus	1/7	OMIM:615777
22808	MRAS	HP:0000414	Bulbous nose	1/1	OMIM:618499
22808	MRAS	HP:0001743	Abnormality of the spleen	HP:0040282	ORPHA:648
22808	MRAS	HP:0001840	Metatarsus adductus	-	OMIM:615777
22808	MRAS	HP:0000520	Proptosis	2/4	OMIM:131300
22808	MRAS	HP:0000520	Proptosis	7/7	OMIM:615777
22808	MRAS	HP:0000520	Proptosis	HP:0040281	ORPHA:648
22808	MRAS	HP:0000509	Conjunctivitis	-	OMIM:153400
22808	MRAS	HP:0000508	Ptosis	2/39	OMIM:153400
22808	MRAS	HP:0000508	Ptosis	1/2	OMIM:618499
22808	MRAS	HP:0000508	Ptosis	HP:0040281	ORPHA:648
22808	MRAS	HP:0012569	Delayed menarche	HP:0040283	ORPHA:648
22808	MRAS	HP:0000592	Blue sclerae	2/7	OMIM:615777
22808	MRAS	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:648
22808	MRAS	HP:0000568	Microphthalmia	1/6	OMIM:153400
22808	MRAS	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
22808	MRAS	HP:0012514	Lower limb pain	4/4	OMIM:131300
22827	PUF60	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:508498
22827	PUF60	HP:0001155	Abnormality of the hand	HP:0040282	ORPHA:508498
22827	PUF60	HP:0001155	Abnormality of the hand	HP:0040282	ORPHA:508488
22827	PUF60	HP:0002474	Expressive language delay	HP:0040282	ORPHA:508488
22827	PUF60	HP:0002414	Spina bifida	HP:0040283	ORPHA:508498
22827	PUF60	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
22827	PUF60	HP:0001293	Cranial nerve compression	-	OMIM:131300
22827	PUF60	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:508488
22827	PUF60	HP:0100807	Long fingers	HP:0040283	ORPHA:508488
22827	PUF60	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:508498
22827	PUF60	HP:0001250	Seizure	1/1	OMIM:615583
22827	PUF60	HP:0001250	Seizure	HP:0040283	ORPHA:508488
22827	PUF60	HP:0001252	Hypotonia	2/7	OMIM:615777
22827	PUF60	HP:0001249	Intellectual disability	HP:0040281	ORPHA:508498
22827	PUF60	HP:0001249	Intellectual disability	5/7	OMIM:615777
22827	PUF60	HP:0001263	Global developmental delay	7/7	OMIM:615583
22827	PUF60	HP:0001263	Global developmental delay	HP:0040281	ORPHA:508488
22827	PUF60	HP:0001263	Global developmental delay	-	OMIM:615777
22827	PUF60	HP:0006009	Broad phalanx	HP:0040283	ORPHA:508498
22827	PUF60	HP:0009997	Duplication of phalanx of hand	HP:0040283	ORPHA:508498
22827	PUF60	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:508488
22827	PUF60	HP:0002515	Waddling gait	54/102	OMIM:131300
22827	PUF60	HP:0003835	Shoulder subluxation	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000089	Renal hypoplasia	-	OMIM:615583
22827	PUF60	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:508488
22827	PUF60	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:508488
22827	PUF60	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:508488
22827	PUF60	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:508488
22827	PUF60	HP:0001382	Joint hypermobility	-	OMIM:615777
22827	PUF60	HP:0001382	Joint hypermobility	5/6	OMIM:615583
22827	PUF60	HP:0000047	Hypospadias	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:508488
22827	PUF60	HP:0002694	Sclerosis of skull base	-	OMIM:131300
22827	PUF60	HP:0008897	Postnatal growth retardation	-	OMIM:615777
22827	PUF60	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:508488
22827	PUF60	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
22827	PUF60	HP:0001324	Muscle weakness	40/96	OMIM:131300
22827	PUF60	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
22827	PUF60	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
22827	PUF60	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
22827	PUF60	HP:0000006	Autosomal dominant inheritance	-	OMIM:615583
22827	PUF60	HP:0002650	Scoliosis	12/14	OMIM:131300
22827	PUF60	HP:0002650	Scoliosis	-	OMIM:615583
22827	PUF60	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
22827	PUF60	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
22827	PUF60	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
22827	PUF60	HP:0025481	Cervical hemivertebrae	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
22827	PUF60	HP:0000175	Cleft palate	2/7	OMIM:615777
22827	PUF60	HP:0000175	Cleft palate	1/1	OMIM:615583
22827	PUF60	HP:0007687	Unilateral ptosis	HP:0040283	ORPHA:508498
22827	PUF60	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:508488
22827	PUF60	HP:0007633	Bilateral microphthalmos	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000122	Unilateral renal agenesis	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000125	Pelvic kidney	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000125	Pelvic kidney	HP:0040283	ORPHA:508488
22827	PUF60	HP:0002761	Generalized joint hypermobility	HP:0040282	ORPHA:508498
22827	PUF60	HP:0000107	Renal cyst	-	OMIM:615583
22827	PUF60	HP:0000104	Renal agenesis	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000104	Renal agenesis	-	OMIM:615583
22827	PUF60	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:508488
22827	PUF60	HP:0004691	2-3 toe syndactyly	HP:0040283	ORPHA:508498
22827	PUF60	HP:0002015	Dysphagia	HP:0040283	ORPHA:508488
22827	PUF60	HP:0002098	Respiratory distress	HP:0040283	ORPHA:508488
22827	PUF60	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:508498
22827	PUF60	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:508488
22827	PUF60	HP:0002059	Cerebral atrophy	-	OMIM:615583
22827	PUF60	HP:0003388	Easy fatigability	36/76	OMIM:131300
22827	PUF60	HP:0011755	Ectopic posterior pituitary	HP:0040283	ORPHA:508488
22827	PUF60	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
22827	PUF60	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:508498
22827	PUF60	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:508488
22827	PUF60	HP:0010609	Skin tags	HP:0040283	ORPHA:508488
22827	PUF60	HP:0010529	Echolalia	HP:0040283	ORPHA:508488
22827	PUF60	HP:0010511	Long toe	HP:0040283	ORPHA:508488
22827	PUF60	HP:0011842	Abnormal skeletal morphology	HP:0040282	ORPHA:508498
22827	PUF60	HP:0003577	Congenital onset	6/6	OMIM:615583
22827	PUF60	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:508488
22827	PUF60	HP:0010722	Asymmetry of the ears	HP:0040282	ORPHA:508488
22827	PUF60	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:508488
22827	PUF60	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:508498
22827	PUF60	HP:0011968	Feeding difficulties	-	OMIM:615583
22827	PUF60	HP:0010628	Facial palsy	HP:0040283	ORPHA:508498
22827	PUF60	HP:0003510	Severe short stature	7/7	OMIM:615777
22827	PUF60	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:508498
22827	PUF60	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:508498
22827	PUF60	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:508488
22827	PUF60	HP:0002315	Headache	-	OMIM:131300
22827	PUF60	HP:0004976	Knee dislocation	6/7	OMIM:615777
22827	PUF60	HP:0009803	Short phalanx of finger	-	OMIM:615777
22827	PUF60	HP:0009796	Branchial cyst	HP:0040283	ORPHA:508488
22827	PUF60	HP:0009796	Branchial cyst	2/6	OMIM:615583
22827	PUF60	HP:0008467	Thoracic hemivertebrae	HP:0040283	ORPHA:508498
22827	PUF60	HP:0009763	Limb pain	63/92	OMIM:131300
22827	PUF60	HP:0010733	Naevus flammeus of the eyelid	HP:0040283	ORPHA:508488
22827	PUF60	HP:0003621	Juvenile onset	-	OMIM:131300
22827	PUF60	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
22827	PUF60	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:508498
22827	PUF60	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:508488
22827	PUF60	HP:0004279	Short palm	HP:0040283	ORPHA:508498
22827	PUF60	HP:0004220	Short middle phalanx of the 5th finger	HP:0040282	ORPHA:508488
22827	PUF60	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
22827	PUF60	HP:6001056	Out-toeing	-	OMIM:131300
22827	PUF60	HP:0000651	Diplopia	-	OMIM:131300
22827	PUF60	HP:0000646	Amblyopia	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000612	Iris coloboma	HP:0040283	ORPHA:508498
22827	PUF60	HP:0001956	Truncal obesity	2/7	OMIM:615777
22827	PUF60	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000609	Optic nerve hypoplasia	2/6	OMIM:615583
22827	PUF60	HP:0001903	Anemia	HP:0040283	OMIM:131300
22827	PUF60	HP:0010049	Short metacarpal	-	OMIM:615777
22827	PUF60	HP:0010055	Broad hallux	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000678	Dental crowding	-	OMIM:615777
22827	PUF60	HP:0011332	Hemifacial hypoplasia	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000670	Carious teeth	-	OMIM:131300
22827	PUF60	HP:0011304	Broad thumb	HP:0040283	ORPHA:508498
22827	PUF60	HP:0011304	Broad thumb	2/7	OMIM:615777
22827	PUF60	HP:0000668	Hypodontia	-	OMIM:615777
22827	PUF60	HP:0000664	Synophrys	-	OMIM:615777
22827	PUF60	HP:0004322	Short stature	15/16	OMIM:615583
22827	PUF60	HP:0004322	Short stature	HP:0040282	ORPHA:508498
22827	PUF60	HP:0004322	Short stature	HP:0040281	ORPHA:508488
22827	PUF60	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:508498
22827	PUF60	HP:0005620	Hypermobility of interphalangeal joints	HP:0040283	ORPHA:508498
22827	PUF60	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:508498
22827	PUF60	HP:0004396	Poor appetite	-	OMIM:131300
22827	PUF60	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
22827	PUF60	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
22827	PUF60	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
22827	PUF60	HP:0003026	Short long bone	7/7	OMIM:615777
22827	PUF60	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
22827	PUF60	HP:0012745	Short palpebral fissure	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000752	Hyperactivity	HP:0040283	ORPHA:508488
22827	PUF60	HP:0011406	Infancy onset short-trunk short stature	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000767	Pectus excavatum	2/7	OMIM:615777
22827	PUF60	HP:0000768	Pectus carinatum	1/7	OMIM:615777
22827	PUF60	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
22827	PUF60	HP:0100033	Tics	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000750	Delayed speech and language development	-	OMIM:615777
22827	PUF60	HP:0000744	Low frustration tolerance	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000729	Autistic behavior	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000729	Autistic behavior	HP:0040282	ORPHA:508488
22827	PUF60	HP:0011470	Nasogastric tube feeding in infancy	HP:0040282	ORPHA:508488
22827	PUF60	HP:0012795	Abnormal optic disc morphology	HP:0040283	ORPHA:508498
22827	PUF60	HP:0011461	Fetal onset	7/7	OMIM:615777
22827	PUF60	HP:0010109	Short hallux	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000774	Narrow chest	2/7	OMIM:615777
22827	PUF60	HP:0000774	Narrow chest	HP:0040283	ORPHA:508488
22827	PUF60	HP:0003196	Short nose	-	OMIM:615583
22827	PUF60	HP:0000926	Platyspondyly	1/7	OMIM:615777
22827	PUF60	HP:0003180	Flat acetabular roof	-	OMIM:615777
22827	PUF60	HP:0004482	Relative macrocephaly	-	OMIM:615777
22827	PUF60	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
22827	PUF60	HP:0000891	Cervical ribs	HP:0040283	ORPHA:508488
22827	PUF60	HP:0003097	Short femur	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000817	Reduced eye contact	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000823	Delayed puberty	-	OMIM:131300
22827	PUF60	HP:0010289	Cleft maxillary alveolar ridge	HP:0040283	ORPHA:508488
22827	PUF60	HP:0040019	Finger clinodactyly	HP:0040282	ORPHA:508488
22827	PUF60	HP:0000894	Short clavicles	-	OMIM:615777
22827	PUF60	HP:0009237	Short 5th finger	HP:0040283	ORPHA:508498
22827	PUF60	HP:0009237	Short 5th finger	HP:0040283	ORPHA:508488
22827	PUF60	HP:0009237	Short 5th finger	-	OMIM:615583
22827	PUF60	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
22827	PUF60	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000998	Hypertrichosis	HP:0040282	ORPHA:508498
22827	PUF60	HP:0000974	Hyperextensible skin	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
22827	PUF60	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:508488
22827	PUF60	HP:0008081	Pes valgus	HP:0040282	ORPHA:508488
22827	PUF60	HP:0011682	Perimembranous ventricular septal defect	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000286	Epicanthus	HP:0040282	ORPHA:508488
22827	PUF60	HP:0000286	Epicanthus	1/7	OMIM:615777
22827	PUF60	HP:0000280	Coarse facial features	2/7	OMIM:615777
22827	PUF60	HP:0000278	Retrognathia	1/1	OMIM:615583
22827	PUF60	HP:0000293	Full cheeks	HP:0040282	ORPHA:508488
22827	PUF60	HP:0000293	Full cheeks	4/6	OMIM:615583
22827	PUF60	HP:0002827	Hip dislocation	HP:0040283	ORPHA:508498
22827	PUF60	HP:0002827	Hip dislocation	3/7	OMIM:615777
22827	PUF60	HP:0002827	Hip dislocation	-	OMIM:615583
22827	PUF60	HP:0030084	Clinodactyly	-	OMIM:615583
22827	PUF60	HP:0000252	Microcephaly	1/1	OMIM:615583
22827	PUF60	HP:0000252	Microcephaly	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000252	Microcephaly	-	OMIM:615777
22827	PUF60	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:508498
22827	PUF60	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:508488
22827	PUF60	HP:0000219	Thin upper lip vermilion	5/6	OMIM:615583
22827	PUF60	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:508488
22827	PUF60	HP:0002857	Genu valgum	-	OMIM:131300
22827	PUF60	HP:0001533	Slender build	-	OMIM:131300
22827	PUF60	HP:0001518	Small for gestational age	HP:0040283	ORPHA:508488
22827	PUF60	HP:0001518	Small for gestational age	1/1	OMIM:615583
22827	PUF60	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:508488
22827	PUF60	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
22827	PUF60	HP:0001511	Intrauterine growth retardation	3/6	OMIM:615583
22827	PUF60	HP:0001510	Growth delay	1/1	OMIM:615583
22827	PUF60	HP:0007807	Optic nerve compression	-	OMIM:131300
22827	PUF60	HP:0011067	Mesiodens	HP:0040283	ORPHA:508488
22827	PUF60	HP:0012368	Flat face	7/7	OMIM:615777
22827	PUF60	HP:0007874	Almond-shaped palpebral fissure	HP:0040283	ORPHA:508498
22827	PUF60	HP:0002937	Hemivertebrae	1/1	OMIM:615583
22827	PUF60	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
22827	PUF60	HP:0002948	Vertebral fusion	1/6	OMIM:615583
22827	PUF60	HP:0002949	Fused cervical vertebrae	HP:0040283	ORPHA:508498
22827	PUF60	HP:0002942	Thoracic kyphosis	HP:0040283	ORPHA:508498
22827	PUF60	HP:0002943	Thoracic scoliosis	HP:0040283	ORPHA:508498
22827	PUF60	HP:0002943	Thoracic scoliosis	HP:0040283	ORPHA:508488
22827	PUF60	HP:0005176	Dysplastic aortic valve	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000365	Hearing impairment	HP:0040282	ORPHA:508498
22827	PUF60	HP:0000365	Hearing impairment	10/67	OMIM:131300
22827	PUF60	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:508488
22827	PUF60	HP:0000341	Narrow forehead	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000341	Narrow forehead	3/5	OMIM:615583
22827	PUF60	HP:0001674	Complete atrioventricular canal defect	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000343	Long philtrum	HP:0040282	ORPHA:508498
22827	PUF60	HP:0000343	Long philtrum	HP:0040282	ORPHA:508488
22827	PUF60	HP:0000343	Long philtrum	1/7	OMIM:615777
22827	PUF60	HP:0000343	Long philtrum	6/6	OMIM:615583
22827	PUF60	HP:0011001	Increased bone mineral density	-	OMIM:131300
22827	PUF60	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:508498
22827	PUF60	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000347	Micrognathia	HP:0040283	ORPHA:508498
22827	PUF60	HP:0002983	Micromelia	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000321	Square face	HP:0040282	ORPHA:508488
22827	PUF60	HP:0000321	Square face	5/6	OMIM:615583
22827	PUF60	HP:0012304	Hypoplastic aortic arch	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000319	Smooth philtrum	HP:0040282	ORPHA:508488
22827	PUF60	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:508498
22827	PUF60	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000311	Round face	2/7	OMIM:615777
22827	PUF60	HP:0001660	Truncus arteriosus	HP:0040283	ORPHA:508498
22827	PUF60	HP:0001660	Truncus arteriosus	HP:0040283	ORPHA:508488
22827	PUF60	HP:0001660	Truncus arteriosus	1/6	OMIM:615583
22827	PUF60	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:508498
22827	PUF60	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:508498
22827	PUF60	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:508488
22827	PUF60	HP:0001629	Ventricular septal defect	3/6	OMIM:615583
22827	PUF60	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:508488
22827	PUF60	HP:0002970	Genu varum	-	OMIM:615777
22827	PUF60	HP:0000308	Microretrognathia	HP:0040282	ORPHA:508498
22827	PUF60	HP:0000308	Microretrognathia	HP:0040283	ORPHA:508488
22827	PUF60	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000300	Oval face	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000303	Mandibular prognathia	-	OMIM:131300
22827	PUF60	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:508498
22827	PUF60	HP:0012487	Cerebellopontine angle arachnoid cyst	HP:0040283	ORPHA:508498
22827	PUF60	HP:0006695	Atrioventricular canal defect	HP:0040283	ORPHA:508498
22827	PUF60	HP:0006695	Atrioventricular canal defect	HP:0040283	ORPHA:508488
22827	PUF60	HP:0005306	Capillary hemangioma	HP:0040283	ORPHA:508488
22827	PUF60	HP:0001738	Exocrine pancreatic insufficiency	HP:0040283	ORPHA:508498
22827	PUF60	HP:0001738	Exocrine pancreatic insufficiency	HP:0040283	ORPHA:508488
22827	PUF60	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
22827	PUF60	HP:0000486	Strabismus	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000486	Strabismus	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000480	Retinal coloboma	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000480	Retinal coloboma	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000490	Deeply set eye	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000463	Anteverted nares	HP:0040282	ORPHA:508488
22827	PUF60	HP:0000463	Anteverted nares	5/6	OMIM:615583
22827	PUF60	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:508488
22827	PUF60	HP:0000455	Broad nasal tip	6/6	OMIM:615583
22827	PUF60	HP:0000470	Short neck	HP:0040282	ORPHA:508498
22827	PUF60	HP:0000470	Short neck	HP:0040282	ORPHA:508488
22827	PUF60	HP:0000470	Short neck	1/7	OMIM:615777
22827	PUF60	HP:0000470	Short neck	4/6	OMIM:615583
22827	PUF60	HP:0001769	Broad foot	HP:0040283	OMIM:615777
22827	PUF60	HP:0001763	Pes planus	HP:0040283	ORPHA:508498
22827	PUF60	HP:0001763	Pes planus	1/7	OMIM:615777
22827	PUF60	HP:0001763	Pes planus	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:508498
22827	PUF60	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:508488
22827	PUF60	HP:0000431	Wide nasal bridge	4/6	OMIM:615583
22827	PUF60	HP:0006712	Aplasia/Hypoplasia of the ribs	HP:0040283	ORPHA:508498
22827	PUF60	HP:0005484	Secondary microcephaly	HP:0040283	ORPHA:508488
22827	PUF60	HP:3000038	Abnormal cricoid cartilage morphology	HP:0040283	ORPHA:508488
22827	PUF60	HP:0001845	Overlapping toe	HP:0040283	ORPHA:508498
22827	PUF60	HP:0001840	Metatarsus adductus	-	OMIM:615777
22827	PUF60	HP:0000527	Long eyelashes	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000520	Proptosis	2/4	OMIM:131300
22827	PUF60	HP:0000520	Proptosis	7/7	OMIM:615777
22827	PUF60	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:508488
22827	PUF60	HP:0012584	Bilateral renal hypoplasia	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000577	Exotropia	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000592	Blue sclerae	2/7	OMIM:615777
22827	PUF60	HP:0000589	Coloboma	HP:0040282	ORPHA:508498
22827	PUF60	HP:0000589	Coloboma	1/6	OMIM:615583
22827	PUF60	HP:0011220	Prominent forehead	HP:0040283	ORPHA:508488
22827	PUF60	HP:0011220	Prominent forehead	6/6	OMIM:615583
22827	PUF60	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:508488
22827	PUF60	HP:0000568	Microphthalmia	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000565	Esotropia	HP:0040283	ORPHA:508498
22827	PUF60	HP:0000540	Hypermetropia	HP:0040283	ORPHA:508498
22827	PUF60	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
22827	PUF60	HP:0001883	Talipes	HP:0040283	ORPHA:508488
22827	PUF60	HP:0012514	Lower limb pain	4/4	OMIM:131300
22827	PUF60	HP:0000545	Myopia	HP:0040283	ORPHA:508498
22837	COBLL1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199306
22837	COBLL1	HP:0000175	Cleft palate	HP:0040282	ORPHA:199306
22837	COBLL1	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:199306
22837	COBLL1	HP:0006292	Abnormality of dental eruption	HP:0040281	ORPHA:199306
22837	COBLL1	HP:0002033	Poor suck	HP:0040282	ORPHA:199306
22837	COBLL1	HP:0200153	Agenesis of lateral incisor	HP:0040283	ORPHA:199306
22837	COBLL1	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:199306
22837	COBLL1	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:199306
22837	COBLL1	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:199306
22837	COBLL1	HP:0004395	Malnutrition	HP:0040283	ORPHA:199306
22837	COBLL1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:199306
22837	COBLL1	HP:0100337	Bilateral cleft palate	HP:0040283	ORPHA:199306
22837	COBLL1	HP:0100334	Unilateral cleft palate	HP:0040282	ORPHA:199306
22837	COBLL1	HP:0010294	Palate fistula	HP:0040283	ORPHA:199306
22837	COBLL1	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:199306
22837	COBLL1	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:199306
22837	COBLL1	HP:0011044	Abnormal number of permanent teeth	HP:0040283	ORPHA:199306
22837	COBLL1	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:199306
22837	COBLL1	HP:0000327	Hypoplasia of the maxilla	HP:0040284	ORPHA:199306
22837	COBLL1	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:199306
22837	COBLL1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:199306
22845	DOLK	HP:0002445	Tetraplegia	1/4	OMIM:610768
22845	DOLK	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
22845	DOLK	HP:0001270	Motor delay	HP:0040283	ORPHA:91131
22845	DOLK	HP:0001250	Seizure	1/4	OMIM:610768
22845	DOLK	HP:0001250	Seizure	HP:0040282	ORPHA:91131
22845	DOLK	HP:0001252	Hypotonia	3/4	OMIM:610768
22845	DOLK	HP:0001249	Intellectual disability	HP:0040283	ORPHA:91131
22845	DOLK	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:91131
22845	DOLK	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:91131
22845	DOLK	HP:0002521	Hypsarrhythmia	1/4	OMIM:610768
22845	DOLK	HP:0025335	Delayed ability to stand	HP:0040283	ORPHA:91131
22845	DOLK	HP:0001344	Absent speech	HP:0040283	ORPHA:91131
22845	DOLK	HP:0000007	Autosomal recessive inheritance	-	OMIM:610768
22845	DOLK	HP:0008947	Floppy infant	HP:0040283	ORPHA:91131
22845	DOLK	HP:0002014	Diarrhea	1/4	OMIM:610768
22845	DOLK	HP:0002013	Vomiting	1/4	OMIM:610768
22845	DOLK	HP:0003323	Progressive muscle weakness	HP:0040283	ORPHA:91131
22845	DOLK	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:91131
22845	DOLK	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
22845	DOLK	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
22845	DOLK	HP:0003593	Infantile onset	2/4	OMIM:610768
22845	DOLK	HP:0003577	Congenital onset	2/4	OMIM:610768
22845	DOLK	HP:0010841	Multifocal epileptiform discharges	HP:0040283	ORPHA:91131
22845	DOLK	HP:0010845	EEG with generalized slow activity	HP:0040283	ORPHA:91131
22845	DOLK	HP:0003642	Type I transferrin isoform profile	HP:0040281	ORPHA:91131
22845	DOLK	HP:0003642	Type I transferrin isoform profile	4/4	OMIM:610768
22845	DOLK	HP:0006829	Severe muscular hypotonia	HP:0040283	ORPHA:91131
22845	DOLK	HP:0000639	Nystagmus	1/4	OMIM:610768
22845	DOLK	HP:0011342	Mild global developmental delay	HP:0040282	ORPHA:91131
22845	DOLK	HP:0000653	Sparse eyelashes	1/4	OMIM:610768
22845	DOLK	HP:0001985	Hypoketotic hypoglycemia	1/4	OMIM:610768
22845	DOLK	HP:0004322	Short stature	HP:0040283	ORPHA:91131
22845	DOLK	HP:0031936	Delayed ability to walk	HP:0040283	ORPHA:91131
22845	DOLK	HP:0000729	Autistic behavior	HP:0040283	ORPHA:91131
22845	DOLK	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
22845	DOLK	HP:0030781	Increased circulating free fatty acid level	1/4	OMIM:610768
22845	DOLK	HP:0003198	Myopathy	HP:0040283	ORPHA:154
22845	DOLK	HP:0000817	Reduced eye contact	HP:0040283	ORPHA:91131
22845	DOLK	HP:0045075	Sparse eyebrow	1/4	OMIM:610768
22845	DOLK	HP:0000958	Dry skin	2/4	OMIM:610768
22845	DOLK	HP:0000969	Edema	HP:0040282	ORPHA:154
22845	DOLK	HP:0000962	Hyperkeratosis	1/4	OMIM:610768
22845	DOLK	HP:0008064	Ichthyosis	HP:0040282	ORPHA:91131
22845	DOLK	HP:0008064	Ichthyosis	3/4	OMIM:610768
22845	DOLK	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
22845	DOLK	HP:0011675	Arrhythmia	HP:0040283	ORPHA:91131
22845	DOLK	HP:0001596	Alopecia	1/4	OMIM:610768
22845	DOLK	HP:0000253	Progressive microcephaly	HP:0040283	ORPHA:91131
22845	DOLK	HP:0031319	Cardiomyocyte hypertrophy	HP:0040281	ORPHA:91131
22845	DOLK	HP:0031329	Interstitial cardiac fibrosis	HP:0040282	ORPHA:91131
22845	DOLK	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
22845	DOLK	HP:0001522	Death in infancy	4/4	OMIM:610768
22845	DOLK	HP:0001508	Failure to thrive	-	OMIM:610768
22845	DOLK	HP:0001508	Failure to thrive	HP:0040282	ORPHA:91131
22845	DOLK	HP:0002835	Aspiration	1/4	OMIM:610768
22845	DOLK	HP:0012378	Fatigue	HP:0040282	ORPHA:154
22845	DOLK	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:91131
22845	DOLK	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:91131
22845	DOLK	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
22845	DOLK	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:91131
22845	DOLK	HP:0001644	Dilated cardiomyopathy	2/4	OMIM:610768
22845	DOLK	HP:0001662	Bradycardia	1/4	OMIM:610768
22845	DOLK	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
22845	DOLK	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:91131
22845	DOLK	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
22845	DOLK	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
22845	DOLK	HP:0000486	Strabismus	HP:0040283	ORPHA:91131
22845	DOLK	HP:0012469	Infantile spasms	HP:0040283	ORPHA:91131
22845	DOLK	HP:0011123	Inflammatory abnormality of the skin	1/4	OMIM:610768
22845	DOLK	HP:0005484	Secondary microcephaly	1/4	OMIM:610768
22845	DOLK	HP:0000505	Visual impairment	HP:0040283	ORPHA:91131
22852	ANKRD26	HP:0000006	Autosomal dominant inheritance	-	OMIM:188000
22852	ANKRD26	HP:0011876	Abnormal platelet volume	0/13	OMIM:188000
22852	ANKRD26	HP:0001974	Increased total leukocyte count	-	OMIM:188000
22852	ANKRD26	HP:0034010	Increased megakaryocyte colony forming unit count	2/2	OMIM:188000
22852	ANKRD26	HP:0000978	Bruising susceptibility	20/20	OMIM:188000
22852	ANKRD26	HP:0012524	Abnormal platelet shape	0/13	OMIM:188000
22852	ANKRD26	HP:0001873	Thrombocytopenia	48/48	OMIM:188000
22854	NTNG1	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:3095
22854	NTNG1	HP:0007281	Developmental stagnation	HP:0040283	ORPHA:3095
22854	NTNG1	HP:0025269	Panic attack	HP:0040283	ORPHA:3095
22854	NTNG1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:3095
22854	NTNG1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:3095
22854	NTNG1	HP:0001250	Seizure	HP:0040281	ORPHA:3095
22854	NTNG1	HP:0001252	Hypotonia	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3095
22854	NTNG1	HP:0001257	Spasticity	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0002540	Inability to walk	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0002505	Loss of ambulation	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0003808	Abnormal muscle tone	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0025387	Pill-rolling tremor	HP:0040283	ORPHA:3095
22854	NTNG1	HP:0001332	Dystonia	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0001337	Tremor	HP:0040283	ORPHA:3095
22854	NTNG1	HP:0002650	Scoliosis	HP:0040283	ORPHA:3095
22854	NTNG1	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:3095
22854	NTNG1	HP:0012171	Stereotypical hand wringing	HP:0040281	ORPHA:3095
22854	NTNG1	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:3095
22854	NTNG1	HP:0032588	Hand apraxia	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:3095
22854	NTNG1	HP:0002186	Apraxia	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:3095
22854	NTNG1	HP:0100703	Tongue thrusting	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:3095
22854	NTNG1	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:3095
22854	NTNG1	HP:0002376	Developmental regression	HP:0040281	ORPHA:3095
22854	NTNG1	HP:0002371	Loss of speech	HP:0040281	ORPHA:3095
22854	NTNG1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:3095
22854	NTNG1	HP:0200055	Small hand	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0002300	Mutism	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:3095
22854	NTNG1	HP:0004305	Involuntary movements	HP:0040281	ORPHA:3095
22854	NTNG1	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:3095
22854	NTNG1	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0000748	Inappropriate laughter	HP:0040283	ORPHA:3095
22854	NTNG1	HP:0000713	Agitation	HP:0040281	ORPHA:3095
22854	NTNG1	HP:0000729	Autistic behavior	HP:0040281	ORPHA:3095
22854	NTNG1	HP:0000723	Restrictive behavior	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0012760	Reduced social responsiveness	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:3095
22854	NTNG1	HP:0045084	Limb myoclonus	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0002808	Kyphosis	HP:0040283	ORPHA:3095
22854	NTNG1	HP:0002882	Sudden episodic apnea	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0002876	Episodic tachypnea	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0001510	Growth delay	HP:0040283	ORPHA:3095
22854	NTNG1	HP:0007824	Total ophthalmoplegia	-	ORPHA:3095
22854	NTNG1	HP:0032807	Neonatal seizure	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0030215	Inappropriate crying	HP:0040283	ORPHA:3095
22854	NTNG1	HP:0012469	Infantile spasms	HP:0040283	ORPHA:3095
22854	NTNG1	HP:0001773	Short foot	HP:0040282	ORPHA:3095
22854	NTNG1	HP:0005484	Secondary microcephaly	HP:0040282	ORPHA:3095
22856	CHSY1	HP:0001156	Brachydactyly	-	OMIM:605282
22856	CHSY1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:363417
22856	CHSY1	HP:0001159	Syndactyly	10/10	OMIM:605282
22856	CHSY1	HP:0002465	Poor speech	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0009970	Partial duplication of the proximal phalanx of the 3rd finger	HP:0040282	ORPHA:363417
22856	CHSY1	HP:0009966	Complete duplication of the middle phalanx of the 3rd finger	HP:0040282	ORPHA:363417
22856	CHSY1	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:605282
22856	CHSY1	HP:0008625	Severe sensorineural hearing impairment	HP:0040282	ORPHA:363417
22856	CHSY1	HP:0009942	Duplication of thumb phalanx	HP:0040281	ORPHA:363417
22856	CHSY1	HP:0009944	Partial duplication of thumb phalanx	HP:0040282	ORPHA:363417
22856	CHSY1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
22856	CHSY1	HP:0001293	Cranial nerve compression	-	OMIM:131300
22856	CHSY1	HP:0001252	Hypotonia	2/7	OMIM:615777
22856	CHSY1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:363417
22856	CHSY1	HP:0001249	Intellectual disability	5/7	OMIM:615777
22856	CHSY1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:363417
22856	CHSY1	HP:0001263	Global developmental delay	6/9	OMIM:605282
22856	CHSY1	HP:0001263	Global developmental delay	-	OMIM:615777
22856	CHSY1	HP:0001234	Hitchhiker thumb	10/10	OMIM:605282
22856	CHSY1	HP:0002553	Highly arched eyebrow	-	OMIM:605282
22856	CHSY1	HP:0002515	Waddling gait	54/102	OMIM:131300
22856	CHSY1	HP:0001382	Joint hypermobility	-	OMIM:615777
22856	CHSY1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
22856	CHSY1	HP:0001357	Plagiocephaly	-	OMIM:605282
22856	CHSY1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
22856	CHSY1	HP:0006152	Proximal symphalangism of hands	HP:0040282	ORPHA:363417
22856	CHSY1	HP:0001328	Specific learning disability	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
22856	CHSY1	HP:0001324	Muscle weakness	40/96	OMIM:131300
22856	CHSY1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
22856	CHSY1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
22856	CHSY1	HP:0000007	Autosomal recessive inheritance	-	OMIM:605282
22856	CHSY1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
22856	CHSY1	HP:0002650	Scoliosis	12/14	OMIM:131300
22856	CHSY1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
22856	CHSY1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
22856	CHSY1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
22856	CHSY1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
22856	CHSY1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:363417
22856	CHSY1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0000175	Cleft palate	HP:0040283	OMIM:605282
22856	CHSY1	HP:0000175	Cleft palate	2/7	OMIM:615777
22856	CHSY1	HP:0002002	Deep philtrum	-	OMIM:605282
22856	CHSY1	HP:0003388	Easy fatigability	36/76	OMIM:131300
22856	CHSY1	HP:0009466	Radial deviation of finger	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
22856	CHSY1	HP:0009608	Complete duplication of proximal phalanx of the thumb	HP:0040282	ORPHA:363417
22856	CHSY1	HP:0010554	Cutaneous finger syndactyly	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0009702	Carpal synostosis	-	OMIM:605282
22856	CHSY1	HP:0008368	Tarsal synostosis	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0008368	Tarsal synostosis	-	OMIM:605282
22856	CHSY1	HP:0003510	Severe short stature	7/7	OMIM:615777
22856	CHSY1	HP:0002315	Headache	-	OMIM:131300
22856	CHSY1	HP:0004976	Knee dislocation	6/7	OMIM:615777
22856	CHSY1	HP:0001090	Abnormally large globe	HP:0040282	ORPHA:363417
22856	CHSY1	HP:0009803	Short phalanx of finger	-	OMIM:615777
22856	CHSY1	HP:0010743	Short metatarsal	-	OMIM:605282
22856	CHSY1	HP:0009763	Limb pain	63/92	OMIM:131300
22856	CHSY1	HP:0003621	Juvenile onset	-	OMIM:131300
22856	CHSY1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
22856	CHSY1	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0004279	Short palm	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
22856	CHSY1	HP:6001056	Out-toeing	-	OMIM:131300
22856	CHSY1	HP:0000651	Diplopia	-	OMIM:131300
22856	CHSY1	HP:0000648	Optic atrophy	HP:0040283	OMIM:605282
22856	CHSY1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0001956	Truncal obesity	2/7	OMIM:615777
22856	CHSY1	HP:0001903	Anemia	HP:0040283	OMIM:131300
22856	CHSY1	HP:0010049	Short metacarpal	-	OMIM:615777
22856	CHSY1	HP:0010049	Short metacarpal	-	OMIM:605282
22856	CHSY1	HP:0000699	Diastema	-	OMIM:605282
22856	CHSY1	HP:0000678	Dental crowding	-	OMIM:615777
22856	CHSY1	HP:0000677	Oligodontia	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0000692	Tooth malposition	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0000691	Microdontia	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0000691	Microdontia	10/10	OMIM:605282
22856	CHSY1	HP:0000670	Carious teeth	-	OMIM:131300
22856	CHSY1	HP:0011304	Broad thumb	2/7	OMIM:615777
22856	CHSY1	HP:0000668	Hypodontia	HP:0040282	ORPHA:363417
22856	CHSY1	HP:0000668	Hypodontia	-	OMIM:615777
22856	CHSY1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:363417
22856	CHSY1	HP:0000664	Synophrys	-	OMIM:605282
22856	CHSY1	HP:0000664	Synophrys	-	OMIM:615777
22856	CHSY1	HP:0004322	Short stature	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0004396	Poor appetite	-	OMIM:131300
22856	CHSY1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
22856	CHSY1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
22856	CHSY1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
22856	CHSY1	HP:0003026	Short long bone	7/7	OMIM:615777
22856	CHSY1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
22856	CHSY1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
22856	CHSY1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
22856	CHSY1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
22856	CHSY1	HP:0000750	Delayed speech and language development	-	OMIM:615777
22856	CHSY1	HP:0012795	Abnormal optic disc morphology	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0011461	Fetal onset	7/7	OMIM:615777
22856	CHSY1	HP:0010109	Short hallux	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0000774	Narrow chest	2/7	OMIM:615777
22856	CHSY1	HP:0003196	Short nose	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0000926	Platyspondyly	1/7	OMIM:615777
22856	CHSY1	HP:0003180	Flat acetabular roof	-	OMIM:615777
22856	CHSY1	HP:0004482	Relative macrocephaly	-	OMIM:615777
22856	CHSY1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
22856	CHSY1	HP:0100347	Tibial deviation of the 5th toe	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0100345	Tibial deviation of the 2nd toe	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0000823	Delayed puberty	-	OMIM:131300
22856	CHSY1	HP:0040022	Clinodactyly of the 2nd finger	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0000894	Short clavicles	-	OMIM:615777
22856	CHSY1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
22856	CHSY1	HP:0100266	Synostosis of carpals/tarsals	HP:0040282	ORPHA:363417
22856	CHSY1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
22856	CHSY1	HP:0040159	Abnormal spaced incisors	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0000286	Epicanthus	1/7	OMIM:615777
22856	CHSY1	HP:0000280	Coarse facial features	2/7	OMIM:615777
22856	CHSY1	HP:0002827	Hip dislocation	3/7	OMIM:615777
22856	CHSY1	HP:0030084	Clinodactyly	10/10	OMIM:605282
22856	CHSY1	HP:0005037	Proximal radio-ulnar synostosis	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0001566	Widely-spaced maxillary central incisors	HP:0040282	ORPHA:363417
22856	CHSY1	HP:0000252	Microcephaly	-	OMIM:615777
22856	CHSY1	HP:0002857	Genu valgum	-	OMIM:131300
22856	CHSY1	HP:0001533	Slender build	-	OMIM:131300
22856	CHSY1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
22856	CHSY1	HP:0001510	Growth delay	HP:0040282	ORPHA:363417
22856	CHSY1	HP:0011087	Talon cusp	7/10	OMIM:605282
22856	CHSY1	HP:0011087	Talon cusp	HP:0040282	ORPHA:363417
22856	CHSY1	HP:0007807	Optic nerve compression	-	OMIM:131300
22856	CHSY1	HP:0011078	Abnormality of canine	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0012368	Flat face	7/7	OMIM:615777
22856	CHSY1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
22856	CHSY1	HP:0000365	Hearing impairment	10/67	OMIM:131300
22856	CHSY1	HP:0000369	Low-set ears	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0000343	Long philtrum	1/7	OMIM:615777
22856	CHSY1	HP:0011001	Increased bone mineral density	-	OMIM:131300
22856	CHSY1	HP:0000347	Micrognathia	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0000316	Hypertelorism	-	OMIM:605282
22856	CHSY1	HP:0000311	Round face	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0000311	Round face	2/7	OMIM:615777
22856	CHSY1	HP:0002974	Radioulnar synostosis	HP:0040283	OMIM:605282
22856	CHSY1	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0002970	Genu varum	-	OMIM:615777
22856	CHSY1	HP:0000303	Mandibular prognathia	-	OMIM:131300
22856	CHSY1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
22856	CHSY1	HP:0000470	Short neck	1/7	OMIM:615777
22856	CHSY1	HP:0001773	Short foot	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
22856	CHSY1	HP:0001763	Pes planus	1/7	OMIM:615777
22856	CHSY1	HP:0011297	Abnormal digit morphology	HP:0040281	ORPHA:363417
22856	CHSY1	HP:0000517	Abnormal lens morphology	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0001840	Metatarsus adductus	-	OMIM:615777
22856	CHSY1	HP:0000520	Proptosis	2/4	OMIM:131300
22856	CHSY1	HP:0000520	Proptosis	7/7	OMIM:615777
22856	CHSY1	HP:0000592	Blue sclerae	HP:0040283	ORPHA:363417
22856	CHSY1	HP:0000592	Blue sclerae	2/7	OMIM:615777
22856	CHSY1	HP:0000592	Blue sclerae	HP:0040283	OMIM:605282
22856	CHSY1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
22856	CHSY1	HP:0012514	Lower limb pain	4/4	OMIM:131300
22858	CILK1	HP:0001156	Brachydactyly	6/6	OMIM:612651
22858	CILK1	HP:0001159	Syndactyly	6/6	OMIM:612651
22858	CILK1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
22858	CILK1	HP:0001293	Cranial nerve compression	-	OMIM:131300
22858	CILK1	HP:0001274	Agenesis of corpus callosum	1/6	OMIM:612651
22858	CILK1	HP:0001252	Hypotonia	2/7	OMIM:615777
22858	CILK1	HP:0001249	Intellectual disability	-	ORPHA:307
22858	CILK1	HP:0001249	Intellectual disability	5/7	OMIM:615777
22858	CILK1	HP:0001263	Global developmental delay	-	OMIM:615777
22858	CILK1	HP:0001234	Hitchhiker thumb	1/6	OMIM:612651
22858	CILK1	HP:0008749	Laryngeal hypoplasia	2/3	OMIM:612651
22858	CILK1	HP:0007360	Aplasia/Hypoplasia of the cerebellum	1/6	OMIM:612651
22858	CILK1	HP:0002515	Waddling gait	54/102	OMIM:131300
22858	CILK1	HP:0003829	Typified by incomplete penetrance	-	OMIM:617924
22858	CILK1	HP:0000062	Ambiguous genitalia	-	OMIM:612651
22858	CILK1	HP:0000046	Small scrotum	1/4	OMIM:612651
22858	CILK1	HP:0001382	Joint hypermobility	-	OMIM:615777
22858	CILK1	HP:0000047	Hypospadias	1/4	OMIM:612651
22858	CILK1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
22858	CILK1	HP:0001360	Holoprosencephaly	3/6	OMIM:612651
22858	CILK1	HP:0000028	Cryptorchidism	1/4	OMIM:612651
22858	CILK1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
22858	CILK1	HP:0001331	Absent septum pellucidum	2/6	OMIM:612651
22858	CILK1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
22858	CILK1	HP:0001324	Muscle weakness	40/96	OMIM:131300
22858	CILK1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
22858	CILK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612651
22858	CILK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
22858	CILK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
22858	CILK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617924
22858	CILK1	HP:0002650	Scoliosis	12/14	OMIM:131300
22858	CILK1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
22858	CILK1	HP:0003956	Bowed forearm bones	6/6	OMIM:612651
22858	CILK1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
22858	CILK1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
22858	CILK1	HP:0032466	Aplasia of the olfactory bulb	1/6	OMIM:612651
22858	CILK1	HP:0032471	Focal polymicrogyria	1/6	OMIM:612651
22858	CILK1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
22858	CILK1	HP:0000161	Median cleft upper lip	4/6	OMIM:612651
22858	CILK1	HP:0000175	Cleft palate	2/7	OMIM:615777
22858	CILK1	HP:0000153	Abnormality of the mouth	HP:0040282	ORPHA:307
22858	CILK1	HP:0000105	Enlarged kidney	-	OMIM:612651
22858	CILK1	HP:0011800	Midface retrusion	6/6	OMIM:612651
22858	CILK1	HP:0002069	Bilateral tonic-clonic seizure	1/13	OMIM:617924
22858	CILK1	HP:0003388	Easy fatigability	36/76	OMIM:131300
22858	CILK1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
22858	CILK1	HP:0009487	Ulnar deviation of the hand	6/6	OMIM:612651
22858	CILK1	HP:0002123	Generalized myoclonic seizure	7/13	OMIM:617924
22858	CILK1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:307
22858	CILK1	HP:0002121	Generalized non-motor (absence) seizure	5/13	OMIM:617924
22858	CILK1	HP:0002119	Ventriculomegaly	2/6	OMIM:612651
22858	CILK1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:307
22858	CILK1	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:307
22858	CILK1	HP:0010502	Fibular bowing	2/6	OMIM:612651
22858	CILK1	HP:0004719	Hyperechogenic kidneys	-	OMIM:612651
22858	CILK1	HP:0007000	Morning myoclonic jerks	HP:0040281	ORPHA:307
22858	CILK1	HP:0003510	Severe short stature	7/7	OMIM:615777
22858	CILK1	HP:0002392	EEG with polyspike wave complexes	HP:0040281	ORPHA:307
22858	CILK1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:307
22858	CILK1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	4/13	OMIM:617924
22858	CILK1	HP:0002315	Headache	-	OMIM:131300
22858	CILK1	HP:0004976	Knee dislocation	6/7	OMIM:615777
22858	CILK1	HP:0007207	Photosensitive tonic-clonic seizure	HP:0040283	ORPHA:307
22858	CILK1	HP:0009803	Short phalanx of finger	-	OMIM:615777
22858	CILK1	HP:0009763	Limb pain	63/92	OMIM:131300
22858	CILK1	HP:0009755	Ankyloblepharon	4/4	OMIM:612651
22858	CILK1	HP:0003623	Neonatal onset	1/13	OMIM:617924
22858	CILK1	HP:0003621	Juvenile onset	-	OMIM:131300
22858	CILK1	HP:0003621	Juvenile onset	10/13	OMIM:617924
22858	CILK1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
22858	CILK1	HP:0009099	Median cleft palate	5/6	OMIM:612651
22858	CILK1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
22858	CILK1	HP:6001056	Out-toeing	-	OMIM:131300
22858	CILK1	HP:0000651	Diplopia	-	OMIM:131300
22858	CILK1	HP:0001956	Truncal obesity	2/7	OMIM:615777
22858	CILK1	HP:0000601	Hypotelorism	1/1	OMIM:612651
22858	CILK1	HP:0001903	Anemia	HP:0040283	OMIM:131300
22858	CILK1	HP:0010049	Short metacarpal	-	OMIM:615777
22858	CILK1	HP:0000678	Dental crowding	-	OMIM:615777
22858	CILK1	HP:0000695	Natal tooth	-	OMIM:612651
22858	CILK1	HP:0000670	Carious teeth	-	OMIM:131300
22858	CILK1	HP:0011304	Broad thumb	2/7	OMIM:615777
22858	CILK1	HP:0000668	Hypodontia	-	OMIM:615777
22858	CILK1	HP:0000664	Synophrys	-	OMIM:615777
22858	CILK1	HP:0030674	Antenatal onset	6/6	OMIM:612651
22858	CILK1	HP:0004396	Poor appetite	-	OMIM:131300
22858	CILK1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
22858	CILK1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
22858	CILK1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
22858	CILK1	HP:0003026	Short long bone	7/7	OMIM:615777
22858	CILK1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
22858	CILK1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
22858	CILK1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
22858	CILK1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
22858	CILK1	HP:0000750	Delayed speech and language development	-	OMIM:615777
22858	CILK1	HP:0000718	Aggressive behavior	HP:0040284	ORPHA:307
22858	CILK1	HP:0011463	Childhood onset	1/13	OMIM:617924
22858	CILK1	HP:0011461	Fetal onset	7/7	OMIM:615777
22858	CILK1	HP:0000774	Narrow chest	1/6	OMIM:612651
22858	CILK1	HP:0000774	Narrow chest	2/7	OMIM:615777
22858	CILK1	HP:0000926	Platyspondyly	1/7	OMIM:615777
22858	CILK1	HP:0003180	Flat acetabular roof	-	OMIM:615777
22858	CILK1	HP:0004482	Relative macrocephaly	-	OMIM:615777
22858	CILK1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
22858	CILK1	HP:0000835	Adrenal hypoplasia	2/6	OMIM:612651
22858	CILK1	HP:0100336	Bilateral cleft lip	2/6	OMIM:612651
22858	CILK1	HP:0000823	Delayed puberty	-	OMIM:131300
22858	CILK1	HP:0000894	Short clavicles	-	OMIM:615777
22858	CILK1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
22858	CILK1	HP:0100259	Postaxial polydactyly	6/6	OMIM:612651
22858	CILK1	HP:0100258	Preaxial polydactyly	-	OMIM:612651
22858	CILK1	HP:0000954	Single transverse palmar crease	3/3	OMIM:612651
22858	CILK1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
22858	CILK1	HP:0000286	Epicanthus	1/7	OMIM:615777
22858	CILK1	HP:0000280	Coarse facial features	2/7	OMIM:615777
22858	CILK1	HP:0012245	Sex reversal	1/6	OMIM:612651
22858	CILK1	HP:0000268	Dolichocephaly	3/6	OMIM:612651
22858	CILK1	HP:0002827	Hip dislocation	3/7	OMIM:615777
22858	CILK1	HP:0000238	Hydrocephalus	2/6	OMIM:612651
22858	CILK1	HP:0000252	Microcephaly	-	OMIM:615777
22858	CILK1	HP:0001552	Barrel-shaped chest	1/6	OMIM:612651
22858	CILK1	HP:0000215	Thick upper lip vermilion	2/6	OMIM:612651
22858	CILK1	HP:0001561	Polyhydramnios	1/6	OMIM:612651
22858	CILK1	HP:0002857	Genu valgum	-	OMIM:131300
22858	CILK1	HP:0001533	Slender build	-	OMIM:131300
22858	CILK1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
22858	CILK1	HP:0007807	Optic nerve compression	-	OMIM:131300
22858	CILK1	HP:0012368	Flat face	7/7	OMIM:615777
22858	CILK1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
22858	CILK1	HP:0000365	Hearing impairment	10/67	OMIM:131300
22858	CILK1	HP:0000369	Low-set ears	4/6	OMIM:612651
22858	CILK1	HP:0000343	Long philtrum	1/7	OMIM:615777
22858	CILK1	HP:0011001	Increased bone mineral density	-	OMIM:131300
22858	CILK1	HP:0000347	Micrognathia	6/6	OMIM:612651
22858	CILK1	HP:0002982	Tibial bowing	2/6	OMIM:612651
22858	CILK1	HP:0002983	Micromelia	6/6	OMIM:612651
22858	CILK1	HP:0000311	Round face	2/7	OMIM:615777
22858	CILK1	HP:0002970	Genu varum	-	OMIM:615777
22858	CILK1	HP:0000303	Mandibular prognathia	-	OMIM:131300
22858	CILK1	HP:0006610	Wide intermamillary distance	1/6	OMIM:612651
22858	CILK1	HP:0005349	Hypoplasia of the epiglottis	2/3	OMIM:612651
22858	CILK1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
22858	CILK1	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:307
22858	CILK1	HP:0000490	Deeply set eye	5/5	OMIM:612651
22858	CILK1	HP:0000470	Short neck	1/7	OMIM:615777
22858	CILK1	HP:0000437	Depressed nasal tip	-	OMIM:612651
22858	CILK1	HP:0030260	Microphallus	3/4	OMIM:612651
22858	CILK1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
22858	CILK1	HP:0001763	Pes planus	1/7	OMIM:615777
22858	CILK1	HP:0001762	Talipes equinovarus	0/6	OMIM:612651
22858	CILK1	HP:0000431	Wide nasal bridge	-	OMIM:612651
22858	CILK1	HP:0001840	Metatarsus adductus	-	OMIM:615777
22858	CILK1	HP:0001852	Sandal gap	6/6	OMIM:612651
22858	CILK1	HP:0000520	Proptosis	2/4	OMIM:131300
22858	CILK1	HP:0000520	Proptosis	7/7	OMIM:615777
22858	CILK1	HP:0000592	Blue sclerae	2/7	OMIM:615777
22858	CILK1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
22858	CILK1	HP:0012514	Lower limb pain	4/4	OMIM:131300
22859	ADGRL1	HP:0001250	Seizure	2/9	OMIM:620065
22859	ADGRL1	HP:0001252	Hypotonia	4/9	OMIM:620065
22859	ADGRL1	HP:0001249	Intellectual disability	5/10	OMIM:620065
22859	ADGRL1	HP:0001263	Global developmental delay	9/10	OMIM:620065
22859	ADGRL1	HP:0032388	Periventricular nodular heterotopia	1/5	OMIM:620065
22859	ADGRL1	HP:0025336	Delayed ability to sit	4/7	OMIM:620065
22859	ADGRL1	HP:0001382	Joint hypermobility	4/8	OMIM:620065
22859	ADGRL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620065
22859	ADGRL1	HP:0007018	Attention deficit hyperactivity disorder	4/9	OMIM:620065
22859	ADGRL1	HP:0002360	Sleep abnormality	5/9	OMIM:620065
22859	ADGRL1	HP:0031936	Delayed ability to walk	3/7	OMIM:620065
22859	ADGRL1	HP:0000733	Motor stereotypy	2/8	OMIM:620065
22859	ADGRL1	HP:0000750	Delayed speech and language development	5/10	OMIM:620065
22859	ADGRL1	HP:0000729	Autistic behavior	4/9	OMIM:620065
22859	ADGRL1	HP:0000256	Macrocephaly	4/6	OMIM:620065
22859	ADGRL1	HP:0025502	Overweight	4/9	OMIM:620065
22859	ADGRL1	HP:0000540	Hypermetropia	1/10	OMIM:620065
22861	NLRP1	HP:0100837	Atrophodermia vermiculata	2/2	OMIM:618803
22861	NLRP1	HP:0010982	Polygenic inheritance	-	OMIM:606579
22861	NLRP1	HP:0006094	Finger joint hypermobility	1/1	OMIM:615225
22861	NLRP1	HP:0032347	Cutaneous macular amyloidosis	-	OMIM:615225
22861	NLRP1	HP:0007502	Follicular hyperkeratosis	3/3	OMIM:617388
22861	NLRP1	HP:0007502	Follicular hyperkeratosis	-	OMIM:615225
22861	NLRP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618803
22861	NLRP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617388
22861	NLRP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615225
22861	NLRP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617388
22861	NLRP1	HP:0003493	Antinuclear antibody positivity	2/3	OMIM:617388
22861	NLRP1	HP:0011859	Punctate keratitis	1/3	OMIM:617388
22861	NLRP1	HP:0003593	Infantile onset	3/3	OMIM:617388
22861	NLRP1	HP:0002240	Hepatomegaly	1/3	OMIM:617388
22861	NLRP1	HP:0002257	Chronic rhinitis	1/1	OMIM:615225
22861	NLRP1	HP:0008404	Nail dystrophy	1/1	OMIM:615225
22861	NLRP1	HP:0032061	Severely increased total eosinophil count	1/3	OMIM:617388
22861	NLRP1	HP:0001036	Parakeratosis	-	OMIM:615225
22861	NLRP1	HP:0001045	Vitiligo	-	OMIM:606579
22861	NLRP1	HP:0100646	Thyroiditis	1/3	OMIM:617388
22861	NLRP1	HP:0025092	Epidermal acanthosis	-	OMIM:617388
22861	NLRP1	HP:0025092	Epidermal acanthosis	-	OMIM:615225
22861	NLRP1	HP:0001097	Keratoconjunctivitis sicca	1/3	OMIM:617388
22861	NLRP1	HP:0032152	Keratosis pilaris	2/2	OMIM:618803
22861	NLRP1	HP:0032152	Keratosis pilaris	HP:0040283	OMIM:615225
22861	NLRP1	HP:0032107	Limbal stem cell deficiency	-	OMIM:615225
22861	NLRP1	HP:0000613	Photophobia	1/3	OMIM:617388
22861	NLRP1	HP:0001954	Recurrent fever	3/3	OMIM:617388
22861	NLRP1	HP:0011496	Corneal neovascularization	1/3	OMIM:617388
22861	NLRP1	HP:0011496	Corneal neovascularization	1/1	OMIM:615225
22861	NLRP1	HP:0011463	Childhood onset	1/1	OMIM:615225
22861	NLRP1	HP:0030731	Carcinoma	-	OMIM:615225
22861	NLRP1	HP:0005764	Polyarticular arthritis	3/3	OMIM:617388
22861	NLRP1	HP:0003237	Increased circulating IgG concentration	1/3	OMIM:617388
22861	NLRP1	HP:0003261	Increased circulating IgA concentration	1/3	OMIM:617388
22861	NLRP1	HP:0000972	Palmoplantar hyperkeratosis	3/3	OMIM:617388
22861	NLRP1	HP:0033001	Laryngeal papilloma	2/2	OMIM:618803
22861	NLRP1	HP:0033001	Laryngeal papilloma	1/3	OMIM:617388
22861	NLRP1	HP:0000982	Palmoplantar keratoderma	1/1	OMIM:615225
22861	NLRP1	HP:0000958	Dry skin	1/3	OMIM:617388
22861	NLRP1	HP:0000968	Ectodermal dysplasia	-	OMIM:615225
22861	NLRP1	HP:0002860	Squamous cell carcinoma	-	OMIM:615225
22861	NLRP1	HP:0001508	Failure to thrive	1/3	OMIM:617388
22861	NLRP1	HP:0001510	Growth delay	2/3	OMIM:617388
22861	NLRP1	HP:0011034	Amyloidosis	-	OMIM:615225
22861	NLRP1	HP:0001609	Hoarse voice	2/2	OMIM:618803
22861	NLRP1	HP:0000343	Long philtrum	1/1	OMIM:615225
22861	NLRP1	HP:0000470	Short neck	1/1	OMIM:615225
22861	NLRP1	HP:0001744	Splenomegaly	1/3	OMIM:617388
22861	NLRP1	HP:0000505	Visual impairment	1/1	OMIM:615225
22861	NLRP1	HP:0011227	Elevated circulating C-reactive protein concentration	3/3	OMIM:617388
22861	NLRP1	HP:0001890	Autoimmune hemolytic anemia	1/3	OMIM:617388
22861	NLRP1	HP:0000554	Uveitis	1/3	OMIM:617388
22866	CNKSR2	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
22866	CNKSR2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
22866	CNKSR2	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0001250	Seizure	HP:0040282	ORPHA:442835
22866	CNKSR2	HP:0001250	Seizure	9/12	OMIM:301008
22866	CNKSR2	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
22866	CNKSR2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
22866	CNKSR2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
22866	CNKSR2	HP:0001263	Global developmental delay	9/12	OMIM:301008
22866	CNKSR2	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
22866	CNKSR2	HP:0001328	Specific learning disability	1/4	OMIM:301008
22866	CNKSR2	HP:0001344	Absent speech	3/12	OMIM:301008
22866	CNKSR2	HP:0001337	Tremor	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0001417	X-linked inheritance	-	OMIM:301008
22866	CNKSR2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0002120	Cerebral cortical atrophy	1/6	OMIM:301008
22866	CNKSR2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
22866	CNKSR2	HP:0100710	Impulsivity	1/8	OMIM:301008
22866	CNKSR2	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0007018	Attention deficit hyperactivity disorder	10/12	OMIM:301008
22866	CNKSR2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
22866	CNKSR2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/4	OMIM:301008
22866	CNKSR2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
22866	CNKSR2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
22866	CNKSR2	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0004322	Short stature	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0031936	Delayed ability to walk	4/6	OMIM:301008
22866	CNKSR2	HP:0000752	Hyperactivity	10/12	OMIM:301008
22866	CNKSR2	HP:0000750	Delayed speech and language development	11/12	OMIM:301008
22866	CNKSR2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
22866	CNKSR2	HP:0000717	Autism	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
22866	CNKSR2	HP:0030891	Periventricular white matter hyperintensities	1/6	OMIM:301008
22866	CNKSR2	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
22866	CNKSR2	HP:0000348	High forehead	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0031491	Continuous spike and waves during slow sleep	6/9	OMIM:301008
22866	CNKSR2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
22866	CNKSR2	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
22866	CNKSR2	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
22866	CNKSR2	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
22868	FASTKD2	HP:0002490	Increased CSF lactate	-	OMIM:220110
22868	FASTKD2	HP:0001290	Generalized hypotonia	11/11	OMIM:220110
22868	FASTKD2	HP:0001290	Generalized hypotonia	1/3	OMIM:618855
22868	FASTKD2	HP:0001270	Motor delay	-	OMIM:220110
22868	FASTKD2	HP:0001250	Seizure	-	OMIM:220110
22868	FASTKD2	HP:0001250	Seizure	2/3	OMIM:618855
22868	FASTKD2	HP:0001252	Hypotonia	2/2	OMIM:220110
22868	FASTKD2	HP:0001251	Ataxia	2/2	OMIM:220110
22868	FASTKD2	HP:0001249	Intellectual disability	-	OMIM:220110
22868	FASTKD2	HP:0001263	Global developmental delay	-	OMIM:220110
22868	FASTKD2	HP:0001263	Global developmental delay	2/3	OMIM:618855
22868	FASTKD2	HP:0003819	Death in childhood	2/2	OMIM:220110
22868	FASTKD2	HP:0000093	Proteinuria	-	OMIM:220110
22868	FASTKD2	HP:0001350	Slurred speech	1/3	OMIM:618855
22868	FASTKD2	HP:0001348	Brisk reflexes	11/11	OMIM:220110
22868	FASTKD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618855
22868	FASTKD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:220110
22868	FASTKD2	HP:0002600	Hyporeflexia of lower limbs	1/3	OMIM:618855
22868	FASTKD2	HP:0000124	Renal tubular dysfunction	-	OMIM:220110
22868	FASTKD2	HP:0001427	Mitochondrial inheritance	-	OMIM:220110
22868	FASTKD2	HP:0001410	Decreased liver function	-	OMIM:220110
22868	FASTKD2	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:220110
22868	FASTKD2	HP:0003355	Aminoaciduria	-	OMIM:220110
22868	FASTKD2	HP:0002098	Respiratory distress	-	OMIM:220110
22868	FASTKD2	HP:0002078	Truncal ataxia	11/11	OMIM:220110
22868	FASTKD2	HP:0002059	Cerebral atrophy	1/3	OMIM:618855
22868	FASTKD2	HP:0002151	Increased circulating lactate concentration	-	OMIM:220110
22868	FASTKD2	HP:0002151	Increased circulating lactate concentration	2/3	OMIM:618855
22868	FASTKD2	HP:0003593	Infantile onset	2/2	OMIM:220110
22868	FASTKD2	HP:0002240	Hepatomegaly	-	OMIM:220110
22868	FASTKD2	HP:0003546	Exercise intolerance	-	OMIM:220110
22868	FASTKD2	HP:0003688	Cytochrome C oxidase-negative muscle fibers	15/15	OMIM:220110
22868	FASTKD2	HP:0002376	Developmental regression	13/13	OMIM:220110
22868	FASTKD2	HP:0002352	Leukoencephalopathy	-	OMIM:220110
22868	FASTKD2	HP:0100660	Dyskinesia	2/3	OMIM:618855
22868	FASTKD2	HP:0000639	Nystagmus	1/3	OMIM:618855
22868	FASTKD2	HP:0000648	Optic atrophy	2/2	OMIM:220110
22868	FASTKD2	HP:0001903	Anemia	-	OMIM:220110
22868	FASTKD2	HP:0001994	Renal Fanconi syndrome	-	OMIM:220110
22868	FASTKD2	HP:0003076	Glycosuria	-	OMIM:220110
22868	FASTKD2	HP:0031936	Delayed ability to walk	-	OMIM:618855
22868	FASTKD2	HP:0012751	Abnormal basal ganglia MRI signal intensity	-	OMIM:618855
22868	FASTKD2	HP:0003109	Hyperphosphaturia	-	OMIM:220110
22868	FASTKD2	HP:0003128	Lactic acidosis	13/13	OMIM:220110
22868	FASTKD2	HP:0012240	Increased intramyocellular lipid droplets	-	OMIM:220110
22868	FASTKD2	HP:0002878	Respiratory failure	2/2	OMIM:220110
22868	FASTKD2	HP:0000218	High palate	-	OMIM:220110
22868	FASTKD2	HP:0002875	Exertional dyspnea	-	OMIM:220110
22868	FASTKD2	HP:0001508	Failure to thrive	2/2	OMIM:220110
22868	FASTKD2	HP:0006565	Increased hepatocellular lipid droplets	-	OMIM:220110
22868	FASTKD2	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:220110
22868	FASTKD2	HP:0001639	Hypertrophic cardiomyopathy	1/3	OMIM:618855
22868	FASTKD2	HP:0030319	Weakness of facial musculature	-	OMIM:220110
22868	FASTKD2	HP:0000407	Sensorineural hearing impairment	-	OMIM:220110
22868	FASTKD2	HP:0000508	Ptosis	-	OMIM:220110
22868	FASTKD2	HP:0000597	Ophthalmoparesis	2/2	OMIM:220110
22868	FASTKD2	HP:0000580	Pigmentary retinopathy	-	OMIM:220110
22871	NLGN1	HP:0001263	Global developmental delay	-	OMIM:618830
22871	NLGN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618830
22871	NLGN1	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:618830
22871	NLGN1	HP:0000729	Autistic behavior	-	OMIM:618830
22871	NLGN1	HP:0000722	Compulsive behaviors	-	OMIM:618830
22871	NLGN1	HP:0012760	Reduced social responsiveness	-	OMIM:618830
22872	SEC31A	HP:0001276	Hypertonia	2/2	OMIM:618651
22872	SEC31A	HP:0001274	Agenesis of corpus callosum	2/2	OMIM:618651
22872	SEC31A	HP:0007359	Focal-onset seizure	2/2	OMIM:618651
22872	SEC31A	HP:0002540	Inability to walk	2/2	OMIM:618651
22872	SEC31A	HP:0002510	Spastic tetraplegia	2/2	OMIM:618651
22872	SEC31A	HP:0002507	Semilobar holoprosencephaly	2/2	OMIM:618651
22872	SEC31A	HP:0003819	Death in childhood	2/2	OMIM:618651
22872	SEC31A	HP:0001371	Flexion contracture	2/2	OMIM:618651
22872	SEC31A	HP:0000023	Inguinal hernia	1/2	OMIM:618651
22872	SEC31A	HP:0001347	Hyperreflexia	2/2	OMIM:618651
22872	SEC31A	HP:0000007	Autosomal recessive inheritance	-	OMIM:618651
22872	SEC31A	HP:0002020	Gastroesophageal reflux	2/2	OMIM:618651
22872	SEC31A	HP:0002119	Ventriculomegaly	2/2	OMIM:618651
22872	SEC31A	HP:0002197	Generalized-onset seizure	2/2	OMIM:618651
22872	SEC31A	HP:0007024	Pseudobulbar paralysis	2/2	OMIM:618651
22872	SEC31A	HP:0000648	Optic atrophy	2/2	OMIM:618651
22872	SEC31A	HP:0000776	Congenital diaphragmatic hernia	1/2	OMIM:618651
22872	SEC31A	HP:0011682	Perimembranous ventricular septal defect	1/2	OMIM:618651
22872	SEC31A	HP:0002827	Hip dislocation	2/2	OMIM:618651
22872	SEC31A	HP:0000218	High palate	2/2	OMIM:618651
22872	SEC31A	HP:0001537	Umbilical hernia	1/2	OMIM:618651
22872	SEC31A	HP:0001508	Failure to thrive	2/2	OMIM:618651
22872	SEC31A	HP:0002835	Aspiration	2/2	OMIM:618651
22872	SEC31A	HP:0030048	Colpocephaly	2/2	OMIM:618651
22872	SEC31A	HP:0001511	Intrauterine growth retardation	2/2	OMIM:618651
22872	SEC31A	HP:0000365	Hearing impairment	2/2	OMIM:618651
22872	SEC31A	HP:0000347	Micrognathia	2/2	OMIM:618651
22872	SEC31A	HP:0000325	Triangular face	2/2	OMIM:618651
22872	SEC31A	HP:0012471	Thick vermilion border	2/2	OMIM:618651
22872	SEC31A	HP:0001762	Talipes equinovarus	1/2	OMIM:618651
22872	SEC31A	HP:0000519	Developmental cataract	2/2	OMIM:618651
22872	SEC31A	HP:0000527	Long eyelashes	2/2	OMIM:618651
22873	DZIP1	HP:0003831	Typified by age-related disease onset	-	OMIM:610840
22873	DZIP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619102
22873	DZIP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
22873	DZIP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:610840
22873	DZIP1	HP:0032558	Absent sperm flagella	2/2	OMIM:619102
22873	DZIP1	HP:0032559	Short sperm flagella	2/2	OMIM:619102
22873	DZIP1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
22873	DZIP1	HP:0000798	Oligozoospermia	2/2	OMIM:619102
22873	DZIP1	HP:0004467	Preauricular pit	-	OMIM:187500
22873	DZIP1	HP:0003251	Male infertility	2/2	OMIM:619102
22873	DZIP1	HP:0012208	Immotile sperm	2/2	OMIM:619102
22873	DZIP1	HP:0000337	Broad forehead	-	OMIM:187500
22873	DZIP1	HP:0001653	Mitral regurgitation	-	OMIM:610840
22873	DZIP1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
22873	DZIP1	HP:0001634	Mitral valve prolapse	-	OMIM:610840
22873	DZIP1	HP:0000520	Proptosis	-	OMIM:187500
22880	MORC2	HP:0001171	Split hand	HP:0040283	OMIM:616688
22880	MORC2	HP:0002495	Impaired vibratory sensation	HP:0040282	ORPHA:466768
22880	MORC2	HP:0002493	Upper motor neuron dysfunction	HP:0040282	ORPHA:466768
22880	MORC2	HP:0003797	Limb-girdle muscle atrophy	HP:0040283	ORPHA:466768
22880	MORC2	HP:0002460	Distal muscle weakness	1/4	OMIM:616688
22880	MORC2	HP:0002460	Distal muscle weakness	HP:0040281	ORPHA:466768
22880	MORC2	HP:0007327	Mixed demyelinating and axonal polyneuropathy	HP:0040281	ORPHA:466768
22880	MORC2	HP:0007269	Spinal muscular atrophy	HP:0040283	ORPHA:466768
22880	MORC2	HP:0007256	Abnormal pyramidal sign	HP:0040283	OMIM:616688
22880	MORC2	HP:0007230	Decreased distal sensory nerve action potential	HP:0040282	ORPHA:466768
22880	MORC2	HP:0007210	Lower limb amyotrophy	HP:0040281	ORPHA:466768
22880	MORC2	HP:0002411	Myokymia	-	OMIM:616688
22880	MORC2	HP:0002411	Myokymia	HP:0040283	ORPHA:466768
22880	MORC2	HP:0003701	Proximal muscle weakness	-	OMIM:616688
22880	MORC2	HP:0003701	Proximal muscle weakness	1/25	OMIM:619090
22880	MORC2	HP:0003701	Proximal muscle weakness	HP:0040283	ORPHA:466768
22880	MORC2	HP:0001290	Generalized hypotonia	HP:0040284	ORPHA:466768
22880	MORC2	HP:0001276	Hypertonia	HP:0040283	OMIM:616688
22880	MORC2	HP:0001276	Hypertonia	HP:0040283	ORPHA:466768
22880	MORC2	HP:0001272	Cerebellar atrophy	2/21	OMIM:619090
22880	MORC2	HP:0001272	Cerebellar atrophy	HP:0040284	ORPHA:466768
22880	MORC2	HP:0001270	Motor delay	HP:0040283	OMIM:616688
22880	MORC2	HP:0001288	Gait disturbance	2/4	OMIM:616688
22880	MORC2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:466768
22880	MORC2	HP:0001284	Areflexia	1/4	OMIM:616688
22880	MORC2	HP:0001284	Areflexia	8/25	OMIM:619090
22880	MORC2	HP:0001250	Seizure	HP:0040284	ORPHA:466768
22880	MORC2	HP:0001252	Hypotonia	11/16	OMIM:619090
22880	MORC2	HP:0001252	Hypotonia	-	OMIM:616688
22880	MORC2	HP:0001251	Ataxia	1/4	OMIM:616688
22880	MORC2	HP:0001249	Intellectual disability	18/20	OMIM:619090
22880	MORC2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:466768
22880	MORC2	HP:0001265	Hyporeflexia	2/4	OMIM:616688
22880	MORC2	HP:0001265	Hyporeflexia	6/25	OMIM:619090
22880	MORC2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:466768
22880	MORC2	HP:0001263	Global developmental delay	HP:0040283	OMIM:616688
22880	MORC2	HP:0001257	Spasticity	5/25	OMIM:619090
22880	MORC2	HP:0002540	Inability to walk	HP:0040283	ORPHA:466768
22880	MORC2	HP:0002515	Waddling gait	1/25	OMIM:619090
22880	MORC2	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:466768
22880	MORC2	HP:0000020	Urinary incontinence	HP:0040283	OMIM:616688
22880	MORC2	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:466768
22880	MORC2	HP:0001347	Hyperreflexia	6/25	OMIM:619090
22880	MORC2	HP:0031189	Wrist drop	1/4	OMIM:616688
22880	MORC2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:466768
22880	MORC2	HP:0001337	Tremor	HP:0040282	ORPHA:466768
22880	MORC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619090
22880	MORC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616688
22880	MORC2	HP:0002650	Scoliosis	HP:0040283	OMIM:616688
22880	MORC2	HP:0002650	Scoliosis	4/25	OMIM:619090
22880	MORC2	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:466768
22880	MORC2	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040283	ORPHA:466768
22880	MORC2	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040283	ORPHA:466768
22880	MORC2	HP:0007641	Dyschromatopsia	HP:0040283	ORPHA:466768
22880	MORC2	HP:0008959	Distal upper limb muscle weakness	HP:0040283	ORPHA:466768
22880	MORC2	HP:0008948	Proximal upper limb amyotrophy	HP:0040282	ORPHA:466768
22880	MORC2	HP:0008954	Intrinsic hand muscle atrophy	2/4	OMIM:616688
22880	MORC2	HP:0008944	Distal lower limb amyotrophy	HP:0040281	ORPHA:466768
22880	MORC2	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040284	ORPHA:466768
22880	MORC2	HP:0003325	Limb-girdle muscle weakness	HP:0040283	ORPHA:466768
22880	MORC2	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:466768
22880	MORC2	HP:0002066	Gait ataxia	1/4	OMIM:616688
22880	MORC2	HP:0003394	Muscle spasm	-	OMIM:616688
22880	MORC2	HP:0003394	Muscle spasm	HP:0040283	ORPHA:466768
22880	MORC2	HP:0003390	Sensory axonal neuropathy	HP:0040281	ORPHA:466768
22880	MORC2	HP:0002059	Cerebral atrophy	4/21	OMIM:619090
22880	MORC2	HP:0009473	Joint contracture of the hand	HP:0040282	ORPHA:466768
22880	MORC2	HP:0003477	Peripheral axonal neuropathy	11/15	OMIM:619090
22880	MORC2	HP:0003474	Somatic sensory dysfunction	HP:0040282	ORPHA:466768
22880	MORC2	HP:0003487	Babinski sign	3/4	OMIM:616688
22880	MORC2	HP:0003487	Babinski sign	1/25	OMIM:619090
22880	MORC2	HP:0003487	Babinski sign	HP:0040282	ORPHA:466768
22880	MORC2	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:466768
22880	MORC2	HP:0003431	Decreased motor nerve conduction velocity	4/4	OMIM:616688
22880	MORC2	HP:0003438	Absent Achilles reflex	1/4	OMIM:616688
22880	MORC2	HP:0002188	Delayed CNS myelination	3/21	OMIM:619090
22880	MORC2	HP:0002194	Delayed gross motor development	19/20	OMIM:619090
22880	MORC2	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:466768
22880	MORC2	HP:0007002	Motor axonal neuropathy	HP:0040282	ORPHA:466768
22880	MORC2	HP:0007078	Decreased amplitude of sensory action potentials	4/4	OMIM:616688
22880	MORC2	HP:0002380	Fasciculations	-	OMIM:616688
22880	MORC2	HP:0002380	Fasciculations	HP:0040283	ORPHA:466768
22880	MORC2	HP:0003693	Distal amyotrophy	1/4	OMIM:616688
22880	MORC2	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:466768
22880	MORC2	HP:0001047	Atopic dermatitis	HP:0040283	ORPHA:466768
22880	MORC2	HP:0003677	Slowly progressive	-	OMIM:616688
22880	MORC2	HP:0010830	Impaired tactile sensation	HP:0040282	ORPHA:466768
22880	MORC2	HP:0002311	Incoordination	1/4	OMIM:616688
22880	MORC2	HP:0002312	Clumsiness	1/4	OMIM:616688
22880	MORC2	HP:0003621	Juvenile onset	2/4	OMIM:616688
22880	MORC2	HP:0006858	Impaired distal proprioception	1/4	OMIM:616688
22880	MORC2	HP:0006827	Atrophy of the spinal cord	HP:0040283	ORPHA:466768
22880	MORC2	HP:0006886	Impaired distal vibration sensation	2/4	OMIM:616688
22880	MORC2	HP:0009053	Distal lower limb muscle weakness	HP:0040281	ORPHA:466768
22880	MORC2	HP:0009046	Difficulty running	HP:0040282	ORPHA:466768
22880	MORC2	HP:0009027	Foot dorsiflexor weakness	3/4	OMIM:616688
22880	MORC2	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:466768
22880	MORC2	HP:0001999	Abnormal facial shape	16/20	OMIM:619090
22880	MORC2	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:466768
22880	MORC2	HP:0031947	Tongue tremor	HP:0040283	ORPHA:466768
22880	MORC2	HP:0004322	Short stature	18/20	OMIM:619090
22880	MORC2	HP:0004302	Functional motor deficit	HP:0040282	ORPHA:466768
22880	MORC2	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:466768
22880	MORC2	HP:0006937	Impaired distal tactile sensation	1/4	OMIM:616688
22880	MORC2	HP:0000750	Delayed speech and language development	20/22	OMIM:619090
22880	MORC2	HP:0012785	Flexion contracture of finger	HP:0040282	ORPHA:466768
22880	MORC2	HP:0011462	Young adult onset	2/4	OMIM:616688
22880	MORC2	HP:0009129	Upper limb amyotrophy	HP:0040282	ORPHA:466768
22880	MORC2	HP:0003130	Abnormal peripheral myelination	HP:0040282	ORPHA:466768
22880	MORC2	HP:0005879	Congenital finger flexion contractures	HP:0040283	ORPHA:466768
22880	MORC2	HP:0040131	Abnormal motor nerve conduction velocity	HP:0040282	ORPHA:466768
22880	MORC2	HP:0100290	Abnormality of peripheral somatosensory evoked potentials	HP:0040281	ORPHA:466768
22880	MORC2	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:466768
22880	MORC2	HP:0000252	Microcephaly	15/20	OMIM:619090
22880	MORC2	HP:0000252	Microcephaly	HP:0040284	ORPHA:466768
22880	MORC2	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:466768
22880	MORC2	HP:0012378	Fatigue	HP:0040282	ORPHA:466768
22880	MORC2	HP:0006597	Diaphragmatic paralysis	HP:0040284	ORPHA:466768
22880	MORC2	HP:0002936	Distal sensory impairment	1/4	OMIM:616688
22880	MORC2	HP:0000365	Hearing impairment	-	OMIM:616688
22880	MORC2	HP:0000365	Hearing impairment	11/19	OMIM:619090
22880	MORC2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:466768
22880	MORC2	HP:0001620	Abnormally high-pitched voice	-	OMIM:616688
22880	MORC2	HP:0001620	Abnormally high-pitched voice	HP:0040283	ORPHA:466768
22880	MORC2	HP:0012473	Tongue atrophy	HP:0040283	ORPHA:466768
22880	MORC2	HP:0030237	Hand muscle weakness	HP:0040283	ORPHA:466768
22880	MORC2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:466768
22880	MORC2	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:466768
22880	MORC2	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:466768
22880	MORC2	HP:0001763	Pes planus	1/4	OMIM:616688
22880	MORC2	HP:0001765	Hammertoe	1/25	OMIM:619090
22880	MORC2	HP:0001761	Pes cavus	1/4	OMIM:616688
22880	MORC2	HP:0001761	Pes cavus	HP:0040283	ORPHA:466768
22880	MORC2	HP:0000518	Cataract	HP:0040284	ORPHA:466768
22880	MORC2	HP:0000580	Pigmentary retinopathy	5/6	OMIM:619090
22884	WDR37	HP:0001250	Seizure	5/5	OMIM:618652
22884	WDR37	HP:0001249	Intellectual disability	4/4	OMIM:618652
22884	WDR37	HP:0001263	Global developmental delay	4/4	OMIM:618652
22884	WDR37	HP:0008689	Bilateral cryptorchidism	2/2	OMIM:618652
22884	WDR37	HP:0001344	Absent speech	4/4	OMIM:618652
22884	WDR37	HP:0000006	Autosomal dominant inheritance	-	OMIM:618652
22884	WDR37	HP:0001317	Abnormal cerebellum morphology	-	OMIM:618652
22884	WDR37	HP:0002714	Downturned corners of mouth	5/5	OMIM:618652
22884	WDR37	HP:0005989	Redundant neck skin	2/5	OMIM:618652
22884	WDR37	HP:0010490	Abnormality of the palmar creases	5/5	OMIM:618652
22884	WDR37	HP:0000659	Peters anomaly	1/5	OMIM:618652
22884	WDR37	HP:0000286	Epicanthus	2/5	OMIM:618652
22884	WDR37	HP:0005180	Tricuspid regurgitation	1/5	OMIM:618652
22884	WDR37	HP:0000369	Low-set ears	3/5	OMIM:618652
22884	WDR37	HP:0000348	High forehead	4/5	OMIM:618652
22884	WDR37	HP:0000319	Smooth philtrum	4/4	OMIM:618652
22884	WDR37	HP:0000316	Hypertelorism	2/5	OMIM:618652
22884	WDR37	HP:0001643	Patent ductus arteriosus	2/5	OMIM:618652
22884	WDR37	HP:0001655	Patent foramen ovale	1/5	OMIM:618652
22884	WDR37	HP:0001629	Ventricular septal defect	3/5	OMIM:618652
22884	WDR37	HP:0001640	Cardiomegaly	1/5	OMIM:618652
22884	WDR37	HP:0001631	Atrial septal defect	2/5	OMIM:618652
22884	WDR37	HP:0006610	Wide intermamillary distance	3/5	OMIM:618652
22884	WDR37	HP:0000407	Sensorineural hearing impairment	2/4	OMIM:618652
22884	WDR37	HP:0000426	Prominent nasal bridge	5/5	OMIM:618652
22884	WDR37	HP:0005484	Secondary microcephaly	3/5	OMIM:618652
22884	WDR37	HP:0000589	Coloboma	4/5	OMIM:618652
22884	WDR37	HP:0000568	Microphthalmia	3/5	OMIM:618652
22891	ZNF365	HP:0002494	Abnormal rapid eye movement sleep	HP:0040282	ORPHA:2073
22891	ZNF365	HP:0025235	NREM parasomnia	HP:0040282	ORPHA:2073
22891	ZNF365	HP:0025233	Sleep paralysis	HP:0040283	ORPHA:2073
22891	ZNF365	HP:0001279	Syncope	HP:0040283	ORPHA:2073
22891	ZNF365	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:83465
22891	ZNF365	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:2073
22891	ZNF365	HP:0002519	Hypnagogic hallucination	HP:0040282	ORPHA:2073
22891	ZNF365	HP:0002524	Cataplexy	HP:0040281	ORPHA:2073
22891	ZNF365	HP:0001350	Slurred speech	HP:0040283	ORPHA:2073
22891	ZNF365	HP:0000017	Nocturia	HP:0040282	ORPHA:2073
22891	ZNF365	HP:0007686	Abnormal pupillary function	HP:0040282	ORPHA:2073
22891	ZNF365	HP:0002019	Constipation	HP:0040282	ORPHA:2073
22891	ZNF365	HP:0040307	Male sexual dysfunction	HP:0040282	ORPHA:2073
22891	ZNF365	HP:0002076	Migraine	HP:0040283	ORPHA:2073
22891	ZNF365	HP:0010535	Sleep apnea	HP:0040283	ORPHA:2073
22891	ZNF365	HP:0010534	Transient global amnesia	HP:0040281	ORPHA:2073
22891	ZNF365	HP:0100785	Insomnia	HP:0040281	ORPHA:83465
22891	ZNF365	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:2073
22891	ZNF365	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:83465
22891	ZNF365	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:2073
22891	ZNF365	HP:0002307	Drooling	HP:0040282	ORPHA:2073
22891	ZNF365	HP:0006896	Hypnopompic hallucination	HP:0040282	ORPHA:2073
22891	ZNF365	HP:0000738	Hallucinations	HP:0040281	ORPHA:83465
22891	ZNF365	HP:0000738	Hallucinations	HP:0040281	ORPHA:2073
22891	ZNF365	HP:0000739	Anxiety	HP:0040282	ORPHA:2073
22891	ZNF365	HP:0000716	Depression	HP:0040283	ORPHA:2073
22891	ZNF365	HP:0000711	Restlessness	HP:0040283	ORPHA:2073
22891	ZNF365	HP:0000709	Psychosis	HP:0040284	ORPHA:2073
22891	ZNF365	HP:0000708	Atypical behavior	HP:0040283	ORPHA:83465
22891	ZNF365	HP:0000826	Precocious puberty	HP:0040283	ORPHA:2073
22891	ZNF365	HP:0000822	Hypertension	HP:0040282	ORPHA:2073
22891	ZNF365	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:2073
22891	ZNF365	HP:0030014	Female sexual dysfunction	HP:0040282	ORPHA:2073
22891	ZNF365	HP:0001513	Obesity	HP:0040283	ORPHA:2073
22891	ZNF365	HP:0012452	Restless legs	HP:0040282	ORPHA:2073
22897	CEP164	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
22897	CEP164	HP:0003774	Stage 5 chronic kidney disease	HP:0040281	ORPHA:3156
22897	CEP164	HP:0001250	Seizure	1/7	OMIM:614845
22897	CEP164	HP:0001251	Ataxia	HP:0040283	ORPHA:3156
22897	CEP164	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3156
22897	CEP164	HP:0001263	Global developmental delay	1/7	OMIM:614845
22897	CEP164	HP:0000090	Nephronophthisis	6/7	OMIM:614845
22897	CEP164	HP:0000090	Nephronophthisis	HP:0040282	ORPHA:3156
22897	CEP164	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
22897	CEP164	HP:0000007	Autosomal recessive inheritance	-	OMIM:614845
22897	CEP164	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
22897	CEP164	HP:0001320	Cerebellar vermis hypoplasia	1/7	OMIM:614845
22897	CEP164	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:3156
22897	CEP164	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
22897	CEP164	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
22897	CEP164	HP:0010442	Polydactyly	1/7	OMIM:614845
22897	CEP164	HP:0008209	Premature ovarian insufficiency	HP:0040282	ORPHA:3156
22897	CEP164	HP:0010579	Cone-shaped epiphysis	HP:0040283	ORPHA:3156
22897	CEP164	HP:0003621	Juvenile onset	8/19	OMIM:180100
22897	CEP164	HP:0012622	Chronic kidney disease	HP:0040281	ORPHA:3156
22897	CEP164	HP:0000639	Nystagmus	1/7	OMIM:614845
22897	CEP164	HP:0000618	Blindness	2/7	OMIM:614845
22897	CEP164	HP:0000662	Nyctalopia	26/28	OMIM:180100
22897	CEP164	HP:0004322	Short stature	HP:0040281	ORPHA:3156
22897	CEP164	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:3156
22897	CEP164	HP:0011463	Childhood onset	3/19	OMIM:180100
22897	CEP164	HP:0011462	Young adult onset	8/19	OMIM:180100
22897	CEP164	HP:0000822	Hypertension	HP:0040281	ORPHA:3156
22897	CEP164	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:3156
22897	CEP164	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
22897	CEP164	HP:0001513	Obesity	1/7	OMIM:614845
22897	CEP164	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
22897	CEP164	HP:0002910	Elevated circulating hepatic transaminase concentration	1/7	OMIM:614845
22897	CEP164	HP:0000518	Cataract	HP:0040283	ORPHA:3156
22897	CEP164	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
22897	CEP164	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:3156
22897	CEP164	HP:0000505	Visual impairment	HP:0040281	ORPHA:3156
22897	CEP164	HP:0000575	Scotoma	5/18	OMIM:180100
22897	CEP164	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:3156
22897	CEP164	HP:0000546	Retinal degeneration	6/7	OMIM:614845
22897	CEP164	HP:0000543	Optic disc pallor	1/1	OMIM:180100
22897	CEP164	HP:0000545	Myopia	-	OMIM:180100
22900	CARD8	HP:0000006	Autosomal dominant inheritance	-	OMIM:619079
22900	CARD8	HP:0032564	Ileitis	-	OMIM:619079
22900	CARD8	HP:0002027	Abdominal pain	3/3	OMIM:619079
22900	CARD8	HP:0002028	Chronic diarrhea	3/3	OMIM:619079
22900	CARD8	HP:0002013	Vomiting	1/3	OMIM:619079
22900	CARD8	HP:0033117	Duodenitis	-	OMIM:619079
22900	CARD8	HP:0033256	Pancolitis	-	OMIM:619079
22900	CARD8	HP:0002243	Protein-losing enteropathy	1/3	OMIM:619079
22900	CARD8	HP:0002242	Abnormal intestine morphology	-	OMIM:619079
22900	CARD8	HP:0025085	Bloody diarrhea	1/3	OMIM:619079
22900	CARD8	HP:0100633	Esophagitis	-	OMIM:619079
22900	CARD8	HP:0005263	Gastritis	-	OMIM:619079
22901	ARSG	HP:0001133	Constriction of peripheral visual field	1/1	OMIM:618144
22901	ARSG	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
22901	ARSG	HP:0001105	Retinal atrophy	5/5	OMIM:618144
22901	ARSG	HP:0001251	Ataxia	HP:0040282	ORPHA:231183
22901	ARSG	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
22901	ARSG	HP:0000007	Autosomal recessive inheritance	-	OMIM:618144
22901	ARSG	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
22901	ARSG	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
22901	ARSG	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
22901	ARSG	HP:0100753	Schizophrenia	HP:0040283	ORPHA:231183
22901	ARSG	HP:0008499	High hypermetropia	HP:0040282	ORPHA:231183
22901	ARSG	HP:0003621	Juvenile onset	8/19	OMIM:180100
22901	ARSG	HP:0030529	Ring scotoma	5/5	OMIM:618144
22901	ARSG	HP:0000662	Nyctalopia	1/1	OMIM:618144
22901	ARSG	HP:0000662	Nyctalopia	26/28	OMIM:180100
22901	ARSG	HP:0000662	Nyctalopia	HP:0040281	ORPHA:231183
22901	ARSG	HP:0030631	Hyperautofluorescent macular lesion	1/1	OMIM:618144
22901	ARSG	HP:0000738	Hallucinations	HP:0040283	ORPHA:231183
22901	ARSG	HP:0000739	Anxiety	HP:0040283	ORPHA:231183
22901	ARSG	HP:0000716	Depression	HP:0040283	ORPHA:231183
22901	ARSG	HP:0011463	Childhood onset	3/19	OMIM:180100
22901	ARSG	HP:0011462	Young adult onset	8/19	OMIM:180100
22901	ARSG	HP:0007737	Bone spicule pigmentation of the retina	6/6	OMIM:618144
22901	ARSG	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
22901	ARSG	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:231183
22901	ARSG	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
22901	ARSG	HP:0012377	Hemianopia	HP:0040281	ORPHA:231183
22901	ARSG	HP:0000375	Abnormal cochlea morphology	HP:0040281	ORPHA:231183
22901	ARSG	HP:0000408	Progressive sensorineural hearing impairment	5/5	OMIM:618144
22901	ARSG	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:618144
22901	ARSG	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:231183
22901	ARSG	HP:0000483	Astigmatism	HP:0040282	ORPHA:231183
22901	ARSG	HP:0001751	Abnormal vestibular function	0/5	OMIM:618144
22901	ARSG	HP:0001756	Vestibular hyporeflexia	HP:0040281	ORPHA:231183
22901	ARSG	HP:0000518	Cataract	HP:0040282	ORPHA:231183
22901	ARSG	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
22901	ARSG	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:231183
22901	ARSG	HP:0000575	Scotoma	5/18	OMIM:180100
22901	ARSG	HP:0000575	Scotoma	HP:0040281	ORPHA:231183
22901	ARSG	HP:0000572	Visual loss	HP:0040281	ORPHA:231183
22901	ARSG	HP:0000546	Retinal degeneration	1/1	OMIM:618144
22901	ARSG	HP:0000543	Optic disc pallor	1/1	OMIM:180100
22901	ARSG	HP:0000545	Myopia	-	OMIM:180100
22906	TRAK1	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
22906	TRAK1	HP:0001298	Encephalopathy	-	OMIM:618201
22906	TRAK1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
22906	TRAK1	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0001250	Seizure	HP:0040282	ORPHA:442835
22906	TRAK1	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
22906	TRAK1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
22906	TRAK1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
22906	TRAK1	HP:0001263	Global developmental delay	-	OMIM:618201
22906	TRAK1	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0001257	Spasticity	-	OMIM:618201
22906	TRAK1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
22906	TRAK1	HP:0001371	Flexion contracture	HP:0040284	OMIM:618201
22906	TRAK1	HP:0001347	Hyperreflexia	-	OMIM:618201
22906	TRAK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618201
22906	TRAK1	HP:0001337	Tremor	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0001336	Myoclonus	-	OMIM:618201
22906	TRAK1	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0002098	Respiratory distress	HP:0040284	OMIM:618201
22906	TRAK1	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0002120	Cerebral cortical atrophy	-	OMIM:618201
22906	TRAK1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
22906	TRAK1	HP:0002133	Status epilepticus	-	OMIM:618201
22906	TRAK1	HP:0002169	Clonus	-	OMIM:618201
22906	TRAK1	HP:0010546	Muscle fibrillation	-	OMIM:618201
22906	TRAK1	HP:0002267	Exaggerated startle response	-	OMIM:618201
22906	TRAK1	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
22906	TRAK1	HP:0002376	Developmental regression	-	OMIM:618201
22906	TRAK1	HP:0003676	Progressive	-	OMIM:618201
22906	TRAK1	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
22906	TRAK1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
22906	TRAK1	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0004322	Short stature	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
22906	TRAK1	HP:0000717	Autism	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
22906	TRAK1	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0000252	Microcephaly	HP:0040284	OMIM:618201
22906	TRAK1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
22906	TRAK1	HP:0001508	Failure to thrive	-	OMIM:618201
22906	TRAK1	HP:0000348	High forehead	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
22906	TRAK1	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
22906	TRAK1	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
22906	TRAK1	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
22907	DHX30	HP:0001169	Broad palm	1/12	OMIM:617804
22907	DHX30	HP:0001182	Tapered finger	2/12	OMIM:617804
22907	DHX30	HP:0009899	Prominent crus of helix	1/12	OMIM:617804
22907	DHX30	HP:0003763	Bruxism	2/12	OMIM:617804
22907	DHX30	HP:0001272	Cerebellar atrophy	3/12	OMIM:617804
22907	DHX30	HP:0001270	Motor delay	12/12	OMIM:617804
22907	DHX30	HP:0001250	Seizure	3/12	OMIM:617804
22907	DHX30	HP:0001252	Hypotonia	12/12	OMIM:617804
22907	DHX30	HP:0001251	Ataxia	6/12	OMIM:617804
22907	DHX30	HP:0001249	Intellectual disability	12/12	OMIM:617804
22907	DHX30	HP:0001265	Hyporeflexia	1/12	OMIM:617804
22907	DHX30	HP:0001263	Global developmental delay	-	OMIM:617804
22907	DHX30	HP:0001212	Prominent fingertip pads	2/12	OMIM:617804
22907	DHX30	HP:0002540	Inability to walk	-	OMIM:617804
22907	DHX30	HP:0001382	Joint hypermobility	6/12	OMIM:617804
22907	DHX30	HP:0001332	Dystonia	2/12	OMIM:617804
22907	DHX30	HP:0001344	Absent speech	10/12	OMIM:617804
22907	DHX30	HP:0000006	Autosomal dominant inheritance	-	OMIM:617804
22907	DHX30	HP:0002650	Scoliosis	1/12	OMIM:617804
22907	DHX30	HP:0012171	Stereotypical hand wringing	1/12	OMIM:617804
22907	DHX30	HP:0000194	Open mouth	1/12	OMIM:617804
22907	DHX30	HP:0002072	Chorea	2/12	OMIM:617804
22907	DHX30	HP:0002059	Cerebral atrophy	4/12	OMIM:617804
22907	DHX30	HP:0002119	Ventriculomegaly	6/12	OMIM:617804
22907	DHX30	HP:0002188	Delayed CNS myelination	6/12	OMIM:617804
22907	DHX30	HP:0003593	Infantile onset	-	OMIM:617804
22907	DHX30	HP:0011968	Feeding difficulties	9/12	OMIM:617804
22907	DHX30	HP:0002360	Sleep abnormality	7/12	OMIM:617804
22907	DHX30	HP:0010808	Protruding tongue	1/12	OMIM:617804
22907	DHX30	HP:0011304	Broad thumb	1/12	OMIM:617804
22907	DHX30	HP:0000664	Synophrys	2/12	OMIM:617804
22907	DHX30	HP:0004305	Involuntary movements	-	OMIM:617804
22907	DHX30	HP:0031936	Delayed ability to walk	-	OMIM:617804
22907	DHX30	HP:0012724	Upper eyelid edema	2/12	OMIM:617804
22907	DHX30	HP:0000750	Delayed speech and language development	12/12	OMIM:617804
22907	DHX30	HP:0000729	Autistic behavior	7/12	OMIM:617804
22907	DHX30	HP:0045074	Thin eyebrow	1/12	OMIM:617804
22907	DHX30	HP:0000957	Cafe-au-lait spot	1/12	OMIM:617804
22907	DHX30	HP:0000954	Single transverse palmar crease	1/12	OMIM:617804
22907	DHX30	HP:0000963	Thin skin	1/12	OMIM:617804
22907	DHX30	HP:0000286	Epicanthus	2/12	OMIM:617804
22907	DHX30	HP:0000274	Small face	3/12	OMIM:617804
22907	DHX30	HP:0000276	Long face	1/12	OMIM:617804
22907	DHX30	HP:0000252	Microcephaly	-	OMIM:617804
22907	DHX30	HP:0000218	High palate	1/12	OMIM:617804
22907	DHX30	HP:0000232	Everted lower lip vermilion	2/12	OMIM:617804
22907	DHX30	HP:0000358	Posteriorly rotated ears	1/12	OMIM:617804
22907	DHX30	HP:0000369	Low-set ears	1/12	OMIM:617804
22907	DHX30	HP:0000349	Widow's peak	1/12	OMIM:617804
22907	DHX30	HP:0000348	High forehead	1/12	OMIM:617804
22907	DHX30	HP:0000319	Smooth philtrum	1/12	OMIM:617804
22907	DHX30	HP:0000303	Mandibular prognathia	1/12	OMIM:617804
22907	DHX30	HP:0032988	Persistent head lag	1/12	OMIM:617804
22907	DHX30	HP:0000400	Macrotia	1/12	OMIM:617804
22907	DHX30	HP:0005280	Depressed nasal bridge	1/12	OMIM:617804
22907	DHX30	HP:0000486	Strabismus	6/12	OMIM:617804
22907	DHX30	HP:0000494	Downslanted palpebral fissures	1/12	OMIM:617804
22907	DHX30	HP:0001763	Pes planus	3/12	OMIM:617804
22909	FAN1	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:614817
22909	FAN1	HP:0000090	Nephronophthisis	1/1	OMIM:614817
22909	FAN1	HP:0000093	Proteinuria	5/9	OMIM:614817
22909	FAN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614817
22909	FAN1	HP:0003676	Progressive	-	OMIM:614817
22909	FAN1	HP:0001970	Tubulointerstitial nephritis	9/9	OMIM:614817
22909	FAN1	HP:0003076	Glycosuria	5/9	OMIM:614817
22909	FAN1	HP:0000790	Hematuria	1/9	OMIM:614817
22909	FAN1	HP:0003138	Increased blood urea nitrogen	-	OMIM:614817
22909	FAN1	HP:0003259	Elevated circulating creatinine concentration	-	OMIM:614817
22909	FAN1	HP:0002910	Elevated circulating hepatic transaminase concentration	5/9	OMIM:614817
22909	FAN1	HP:0032948	Renal interstitial fibrosis	1/1	OMIM:614817
22909	FAN1	HP:0041050	Renal tubular cyst	1/1	OMIM:614817
22917	ZP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615774
22917	ZP1	HP:0008222	Female infertility	4/4	OMIM:615774
22917	ZP1	HP:6000328	Absent zona pellucida	2/2	OMIM:615774
22917	ZP1	HP:0011462	Young adult onset	4/4	OMIM:615774
22926	ATF6	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
22926	ATF6	HP:0001103	Abnormal macular morphology	HP:0040283	ORPHA:49382
22926	ATF6	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
22926	ATF6	HP:0007401	Macular atrophy	5/6	OMIM:616517
22926	ATF6	HP:0012043	Pendular nystagmus	HP:0040281	ORPHA:49382
22926	ATF6	HP:0000007	Autosomal recessive inheritance	-	OMIM:616517
22926	ATF6	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
22926	ATF6	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
22926	ATF6	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
22926	ATF6	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
22926	ATF6	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:49382
22926	ATF6	HP:0007663	Reduced visual acuity	6/6	OMIM:616517
22926	ATF6	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
22926	ATF6	HP:0003621	Juvenile onset	8/19	OMIM:180100
22926	ATF6	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
22926	ATF6	HP:0000639	Nystagmus	4/6	OMIM:616517
22926	ATF6	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
22926	ATF6	HP:0000613	Photophobia	HP:0040281	ORPHA:49382
22926	ATF6	HP:0000613	Photophobia	5/6	OMIM:616517
22926	ATF6	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
22926	ATF6	HP:0000603	Central scotoma	HP:0040282	ORPHA:49382
22926	ATF6	HP:0000603	Central scotoma	2/6	OMIM:616517
22926	ATF6	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
22926	ATF6	HP:0030465	Undetectable light-adapted electroretinogram	HP:0040281	ORPHA:49382
22926	ATF6	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
22926	ATF6	HP:0000662	Nyctalopia	26/28	OMIM:180100
22926	ATF6	HP:0030620	Inner retinal layer loss on macular OCT	HP:0040281	ORPHA:49382
22926	ATF6	HP:0030584	Color vision test abnormality	HP:0040281	ORPHA:49382
22926	ATF6	HP:0011463	Childhood onset	3/19	OMIM:180100
22926	ATF6	HP:0011462	Young adult onset	8/19	OMIM:180100
22926	ATF6	HP:0011516	Achromatopsia	5/6	OMIM:616517
22926	ATF6	HP:0030825	Absent foveal reflex	HP:0040282	ORPHA:49382
22926	ATF6	HP:0030825	Absent foveal reflex	-	OMIM:616517
22926	ATF6	HP:0007722	Retinal pigment epithelial atrophy	HP:0040284	ORPHA:49382
22926	ATF6	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
22926	ATF6	HP:0025549	Eccentric visual fixation	HP:0040283	ORPHA:49382
22926	ATF6	HP:0007750	Hypoplasia of the fovea	HP:0040282	ORPHA:49382
22926	ATF6	HP:0007750	Hypoplasia of the fovea	5/6	OMIM:616517
22926	ATF6	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
22926	ATF6	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
22926	ATF6	HP:0007695	Abnormal pupillary light reflex	HP:0040283	ORPHA:49382
22926	ATF6	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
22926	ATF6	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
22926	ATF6	HP:0007843	Attenuation of retinal blood vessels	HP:0040283	ORPHA:49382
22926	ATF6	HP:0007814	Retinal pigment epithelial mottling	HP:0040283	ORPHA:49382
22926	ATF6	HP:0007803	Monochromacy	HP:0040281	ORPHA:49382
22926	ATF6	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
22926	ATF6	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
22926	ATF6	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
22926	ATF6	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
22926	ATF6	HP:0000575	Scotoma	5/18	OMIM:180100
22926	ATF6	HP:0000540	Hypermetropia	HP:0040282	ORPHA:49382
22926	ATF6	HP:0000539	Abnormality of refraction	HP:0040281	ORPHA:49382
22926	ATF6	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
22926	ATF6	HP:0000551	Color vision defect	HP:0040281	ORPHA:49382
22926	ATF6	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
22926	ATF6	HP:0000543	Optic disc pallor	1/1	OMIM:180100
22926	ATF6	HP:0000545	Myopia	-	OMIM:180100
22926	ATF6	HP:0000545	Myopia	HP:0040282	ORPHA:49382
22930	RAB3GAP1	HP:0001155	Abnormality of the hand	HP:0040282	ORPHA:1387
22930	RAB3GAP1	HP:0100952	Enlarged sylvian cistern	7/7	OMIM:600118
22930	RAB3GAP1	HP:0010864	Intellectual disability, severe	1/1	OMIM:619420
22930	RAB3GAP1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0001274	Agenesis of corpus callosum	-	OMIM:600118
22930	RAB3GAP1	HP:0001250	Seizure	HP:0040283	ORPHA:2510
22930	RAB3GAP1	HP:0001252	Hypotonia	1/7	OMIM:600118
22930	RAB3GAP1	HP:0001252	Hypotonia	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0001249	Intellectual disability	-	OMIM:600118
22930	RAB3GAP1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1387
22930	RAB3GAP1	HP:0001264	Spastic diplegia	-	OMIM:600118
22930	RAB3GAP1	HP:0001264	Spastic diplegia	1/1	OMIM:619420
22930	RAB3GAP1	HP:0001263	Global developmental delay	2/2	OMIM:619420
22930	RAB3GAP1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0001257	Spasticity	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:2510
22930	RAB3GAP1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:2510
22930	RAB3GAP1	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:2510
22930	RAB3GAP1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:1387
22930	RAB3GAP1	HP:0000044	Hypogonadotropic hypogonadism	1/1	OMIM:619420
22930	RAB3GAP1	HP:0001387	Joint stiffness	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0001382	Joint hypermobility	HP:0040283	OMIM:600118
22930	RAB3GAP1	HP:0001347	Hyperreflexia	2/3	OMIM:619420
22930	RAB3GAP1	HP:0001347	Hyperreflexia	-	OMIM:600118
22930	RAB3GAP1	HP:0000028	Cryptorchidism	-	OMIM:600118
22930	RAB3GAP1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1387
22930	RAB3GAP1	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:1387
22930	RAB3GAP1	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:1387
22930	RAB3GAP1	HP:0007477	Abnormal dermatoglyphics	HP:0040281	ORPHA:1387
22930	RAB3GAP1	HP:0001339	Lissencephaly	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:600118
22930	RAB3GAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619420
22930	RAB3GAP1	HP:0001302	Pachygyria	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0001320	Cerebellar vermis hypoplasia	3/7	OMIM:600118
22930	RAB3GAP1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:2510
22930	RAB3GAP1	HP:0002650	Scoliosis	HP:0040282	ORPHA:2510
22930	RAB3GAP1	HP:0002650	Scoliosis	HP:0040283	ORPHA:1387
22930	RAB3GAP1	HP:0001321	Cerebellar hypoplasia	7/7	OMIM:600118
22930	RAB3GAP1	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:2510
22930	RAB3GAP1	HP:0000160	Narrow mouth	2/7	OMIM:600118
22930	RAB3GAP1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2510
22930	RAB3GAP1	HP:0002751	Kyphoscoliosis	-	OMIM:600118
22930	RAB3GAP1	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:1387
22930	RAB3GAP1	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1387
22930	RAB3GAP1	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:2510
22930	RAB3GAP1	HP:0002079	Hypoplasia of the corpus callosum	2/3	OMIM:619420
22930	RAB3GAP1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:600118
22930	RAB3GAP1	HP:0002059	Cerebral atrophy	-	OMIM:600118
22930	RAB3GAP1	HP:0009465	Ulnar deviation of finger	HP:0040282	ORPHA:1387
22930	RAB3GAP1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:1387
22930	RAB3GAP1	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:2510
22930	RAB3GAP1	HP:0002188	Delayed CNS myelination	3/7	OMIM:600118
22930	RAB3GAP1	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:1387
22930	RAB3GAP1	HP:0100490	Camptodactyly of finger	1/1	OMIM:619420
22930	RAB3GAP1	HP:0003577	Congenital onset	2/2	OMIM:619420
22930	RAB3GAP1	HP:0100704	Cerebral visual impairment	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0002219	Facial hypertrichosis	-	OMIM:600118
22930	RAB3GAP1	HP:0002230	Generalized hirsutism	HP:0040282	ORPHA:2510
22930	RAB3GAP1	HP:0009738	Abnormal antihelix morphology	HP:0040283	ORPHA:1387
22930	RAB3GAP1	HP:0008388	Abnormal toenail morphology	HP:0040282	ORPHA:1387
22930	RAB3GAP1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:2510
22930	RAB3GAP1	HP:0009832	Abnormal distal phalanx morphology of finger	HP:0040282	ORPHA:1387
22930	RAB3GAP1	HP:0000649	Abnormality of visual evoked potentials	HP:0040282	ORPHA:2510
22930	RAB3GAP1	HP:0000648	Optic atrophy	1/7	OMIM:600118
22930	RAB3GAP1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0000601	Hypotelorism	HP:0040282	ORPHA:1387
22930	RAB3GAP1	HP:0000692	Tooth malposition	HP:0040282	ORPHA:1387
22930	RAB3GAP1	HP:0012650	Perisylvian polymicrogyria	7/7	OMIM:600118
22930	RAB3GAP1	HP:0004325	Decreased body weight	1/1	OMIM:619420
22930	RAB3GAP1	HP:0004322	Short stature	-	OMIM:600118
22930	RAB3GAP1	HP:0004322	Short stature	3/3	OMIM:619420
22930	RAB3GAP1	HP:0004322	Short stature	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0004322	Short stature	HP:0040281	ORPHA:1387
22930	RAB3GAP1	HP:0006956	Lateral ventricle dilatation	1/1	OMIM:619420
22930	RAB3GAP1	HP:0031936	Delayed ability to walk	2/2	OMIM:619420
22930	RAB3GAP1	HP:0003196	Short nose	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0000823	Delayed puberty	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0003241	External genital hypoplasia	-	OMIM:600118
22930	RAB3GAP1	HP:0000998	Hypertrichosis	2/7	OMIM:600118
22930	RAB3GAP1	HP:0000939	Osteoporosis	-	OMIM:600118
22930	RAB3GAP1	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:2510
22930	RAB3GAP1	HP:0000272	Malar flattening	HP:0040281	ORPHA:1387
22930	RAB3GAP1	HP:0002808	Kyphosis	HP:0040282	ORPHA:2510
22930	RAB3GAP1	HP:0000252	Microcephaly	-	OMIM:600118
22930	RAB3GAP1	HP:0000252	Microcephaly	3/3	OMIM:619420
22930	RAB3GAP1	HP:0000252	Microcephaly	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0000252	Microcephaly	HP:0040281	ORPHA:1387
22930	RAB3GAP1	HP:0000248	Brachycephaly	HP:0040282	ORPHA:1387
22930	RAB3GAP1	HP:0000221	Furrowed tongue	HP:0040281	ORPHA:1387
22930	RAB3GAP1	HP:0000218	High palate	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0000218	High palate	HP:0040282	ORPHA:1387
22930	RAB3GAP1	HP:0000233	Thin vermilion border	-	OMIM:600118
22930	RAB3GAP1	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:1387
22930	RAB3GAP1	HP:0001508	Failure to thrive	-	OMIM:600118
22930	RAB3GAP1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2510
22930	RAB3GAP1	HP:0012385	Camptodactyly	1/1	OMIM:619420
22930	RAB3GAP1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1387
22930	RAB3GAP1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2510
22930	RAB3GAP1	HP:0000369	Low-set ears	2/7	OMIM:600118
22930	RAB3GAP1	HP:0000341	Narrow forehead	1/7	OMIM:600118
22930	RAB3GAP1	HP:0000347	Micrognathia	-	OMIM:600118
22930	RAB3GAP1	HP:0000347	Micrognathia	HP:0040282	ORPHA:2510
22930	RAB3GAP1	HP:0000347	Micrognathia	HP:0040282	ORPHA:1387
22930	RAB3GAP1	HP:0000322	Short philtrum	HP:0040281	ORPHA:1387
22930	RAB3GAP1	HP:0000322	Short philtrum	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0000400	Macrotia	1/1	OMIM:619420
22930	RAB3GAP1	HP:0000400	Macrotia	-	OMIM:600118
22930	RAB3GAP1	HP:0000400	Macrotia	HP:0040282	ORPHA:2510
22930	RAB3GAP1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1387
22930	RAB3GAP1	HP:0000480	Retinal coloboma	HP:0040283	ORPHA:2510
22930	RAB3GAP1	HP:0000482	Microcornea	-	OMIM:600118
22930	RAB3GAP1	HP:0000482	Microcornea	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0000490	Deeply set eye	-	OMIM:600118
22930	RAB3GAP1	HP:0000463	Anteverted nares	1/7	OMIM:600118
22930	RAB3GAP1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0012444	Brain atrophy	1/2	OMIM:619420
22930	RAB3GAP1	HP:0000455	Broad nasal tip	1/1	OMIM:619420
22930	RAB3GAP1	HP:0000431	Wide nasal bridge	1/7	OMIM:600118
22930	RAB3GAP1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0000518	Cataract	1/1	OMIM:619420
22930	RAB3GAP1	HP:0000518	Cataract	HP:0040281	ORPHA:1387
22930	RAB3GAP1	HP:0000518	Cataract	HP:0040281	ORPHA:2510
22930	RAB3GAP1	HP:0000519	Developmental cataract	-	OMIM:600118
22930	RAB3GAP1	HP:0000519	Developmental cataract	2/2	OMIM:619420
22930	RAB3GAP1	HP:0001845	Overlapping toe	HP:0040283	OMIM:600118
22930	RAB3GAP1	HP:0001845	Overlapping toe	1/1	OMIM:619420
22930	RAB3GAP1	HP:0000508	Ptosis	-	OMIM:600118
22930	RAB3GAP1	HP:0000568	Microphthalmia	-	OMIM:600118
22930	RAB3GAP1	HP:0000568	Microphthalmia	HP:0040281	ORPHA:2510
22931	RAB18	HP:0002476	Primitive reflex	1/12	OMIM:614222
22931	RAB18	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2510
22931	RAB18	HP:0001250	Seizure	HP:0040283	ORPHA:2510
22931	RAB18	HP:0001252	Hypotonia	HP:0040281	ORPHA:2510
22931	RAB18	HP:0001263	Global developmental delay	12/12	OMIM:614222
22931	RAB18	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2510
22931	RAB18	HP:0001257	Spasticity	HP:0040281	ORPHA:2510
22931	RAB18	HP:0008734	Decreased testicular size	-	OMIM:614222
22931	RAB18	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:2510
22931	RAB18	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040281	ORPHA:2510
22931	RAB18	HP:0002540	Inability to walk	11/11	OMIM:614222
22931	RAB18	HP:0002510	Spastic tetraplegia	-	OMIM:614222
22931	RAB18	HP:0000064	Hypoplastic labia minora	1/8	OMIM:614222
22931	RAB18	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:2510
22931	RAB18	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:2510
22931	RAB18	HP:0000046	Small scrotum	-	OMIM:614222
22931	RAB18	HP:0001371	Flexion contracture	-	OMIM:614222
22931	RAB18	HP:0000054	Micropenis	2/4	OMIM:614222
22931	RAB18	HP:0001387	Joint stiffness	HP:0040281	ORPHA:2510
22931	RAB18	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2510
22931	RAB18	HP:0008897	Postnatal growth retardation	12/12	OMIM:614222
22931	RAB18	HP:0001344	Absent speech	2/12	OMIM:614222
22931	RAB18	HP:0001339	Lissencephaly	HP:0040281	ORPHA:2510
22931	RAB18	HP:0000007	Autosomal recessive inheritance	-	OMIM:614222
22931	RAB18	HP:0001302	Pachygyria	HP:0040281	ORPHA:2510
22931	RAB18	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:2510
22931	RAB18	HP:0002650	Scoliosis	HP:0040282	ORPHA:2510
22931	RAB18	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:2510
22931	RAB18	HP:0000189	Narrow palate	-	OMIM:614222
22931	RAB18	HP:0008936	Axial hypotonia	12/12	OMIM:614222
22931	RAB18	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2510
22931	RAB18	HP:0002751	Kyphoscoliosis	-	OMIM:614222
22931	RAB18	HP:0002714	Downturned corners of mouth	-	OMIM:614222
22931	RAB18	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:2510
22931	RAB18	HP:0002069	Bilateral tonic-clonic seizure	3/12	OMIM:614222
22931	RAB18	HP:0002061	Lower limb spasticity	6/12	OMIM:614222
22931	RAB18	HP:0002079	Hypoplasia of the corpus callosum	6/7	OMIM:614222
22931	RAB18	HP:0002120	Cerebral cortical atrophy	-	OMIM:614222
22931	RAB18	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:2510
22931	RAB18	HP:0002119	Ventriculomegaly	3/7	OMIM:614222
22931	RAB18	HP:0002126	Polymicrogyria	4/7	OMIM:614222
22931	RAB18	HP:0002187	Intellectual disability, profound	-	OMIM:614222
22931	RAB18	HP:0003577	Congenital onset	12/12	OMIM:614222
22931	RAB18	HP:0100704	Cerebral visual impairment	8/12	OMIM:614222
22931	RAB18	HP:0100704	Cerebral visual impairment	HP:0040281	ORPHA:2510
22931	RAB18	HP:0002230	Generalized hirsutism	HP:0040282	ORPHA:2510
22931	RAB18	HP:0002280	Enlarged cisterna magna	1/7	OMIM:614222
22931	RAB18	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:2510
22931	RAB18	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:614222
22931	RAB18	HP:0000639	Nystagmus	-	OMIM:614222
22931	RAB18	HP:0000649	Abnormality of visual evoked potentials	HP:0040282	ORPHA:2510
22931	RAB18	HP:0000648	Optic atrophy	8/8	OMIM:614222
22931	RAB18	HP:0000648	Optic atrophy	HP:0040281	ORPHA:2510
22931	RAB18	HP:0000616	Miosis	12/12	OMIM:614222
22931	RAB18	HP:0004322	Short stature	HP:0040281	ORPHA:2510
22931	RAB18	HP:0011448	Ankle clonus	1/12	OMIM:614222
22931	RAB18	HP:0003199	Decreased muscle mass	-	OMIM:614222
22931	RAB18	HP:0003196	Short nose	-	OMIM:614222
22931	RAB18	HP:0003196	Short nose	HP:0040281	ORPHA:2510
22931	RAB18	HP:0000823	Delayed puberty	HP:0040281	ORPHA:2510
22931	RAB18	HP:0000998	Hypertrichosis	-	OMIM:614222
22931	RAB18	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:2510
22931	RAB18	HP:0000294	Low anterior hairline	-	OMIM:614222
22931	RAB18	HP:0002808	Kyphosis	HP:0040282	ORPHA:2510
22931	RAB18	HP:0000252	Microcephaly	-	OMIM:614222
22931	RAB18	HP:0000252	Microcephaly	HP:0040281	ORPHA:2510
22931	RAB18	HP:0000248	Brachycephaly	-	OMIM:614222
22931	RAB18	HP:0000218	High palate	HP:0040281	ORPHA:2510
22931	RAB18	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2510
22931	RAB18	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2510
22931	RAB18	HP:0000347	Micrognathia	HP:0040282	ORPHA:2510
22931	RAB18	HP:0000347	Micrognathia	-	OMIM:614222
22931	RAB18	HP:0032794	Myoclonic seizure	1/12	OMIM:614222
22931	RAB18	HP:0000322	Short philtrum	HP:0040281	ORPHA:2510
22931	RAB18	HP:0006610	Wide intermamillary distance	-	OMIM:614222
22931	RAB18	HP:0000400	Macrotia	-	OMIM:614222
22931	RAB18	HP:0000400	Macrotia	HP:0040282	ORPHA:2510
22931	RAB18	HP:0000480	Retinal coloboma	HP:0040283	ORPHA:2510
22931	RAB18	HP:0000482	Microcornea	12/12	OMIM:614222
22931	RAB18	HP:0000482	Microcornea	HP:0040281	ORPHA:2510
22931	RAB18	HP:0000463	Anteverted nares	HP:0040281	ORPHA:2510
22931	RAB18	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:2510
22931	RAB18	HP:0005484	Secondary microcephaly	12/12	OMIM:614222
22931	RAB18	HP:0000518	Cataract	12/12	OMIM:614222
22931	RAB18	HP:0000518	Cataract	HP:0040281	ORPHA:2510
22931	RAB18	HP:0000519	Developmental cataract	-	OMIM:614222
22931	RAB18	HP:0000581	Blepharophimosis	-	OMIM:614222
22931	RAB18	HP:0000594	Shallow anterior chamber	-	OMIM:614222
22931	RAB18	HP:0000568	Microphthalmia	12/12	OMIM:614222
22931	RAB18	HP:0000568	Microphthalmia	HP:0040281	ORPHA:2510
22934	RPIA	HP:0034894	Elevated brain polyol compounds by MRS	-	OMIM:608611
22934	RPIA	HP:0001271	Polyneuropathy	-	OMIM:608611
22934	RPIA	HP:0001250	Seizure	-	OMIM:608611
22934	RPIA	HP:0001251	Ataxia	-	OMIM:608611
22934	RPIA	HP:0001260	Dysarthria	-	OMIM:608611
22934	RPIA	HP:0001263	Global developmental delay	11/11	OMIM:608611
22934	RPIA	HP:0001257	Spasticity	-	OMIM:608611
22934	RPIA	HP:0000007	Autosomal recessive inheritance	-	OMIM:608611
22934	RPIA	HP:0410075	Increased CSF xylitol concentration	-	OMIM:608611
22934	RPIA	HP:0410073	Increased CSF ribose concentration	-	OMIM:608611
22934	RPIA	HP:0410074	Increased level of xylitol in urine	-	OMIM:608611
22934	RPIA	HP:0410071	Increased CSF ribitol concentration	-	OMIM:608611
22934	RPIA	HP:0410072	Increased level of ribose in urine	-	OMIM:608611
22934	RPIA	HP:0410070	Increased level of ribitol in urine	-	OMIM:608611
22934	RPIA	HP:0410059	Increased level of D-threitol in urine	-	OMIM:608611
22934	RPIA	HP:0410057	Increased level of D-threitol in plasma	-	OMIM:608611
22934	RPIA	HP:0410058	Increased CSF D-threitol concentration	-	OMIM:608611
22934	RPIA	HP:0410055	Decreased level of erythritol in urine	-	OMIM:608611
22934	RPIA	HP:0410056	Decreased CSF erythritol concentration	-	OMIM:608611
22934	RPIA	HP:0002352	Leukoencephalopathy	-	OMIM:608611
22934	RPIA	HP:0007141	Sensorimotor neuropathy	-	OMIM:608611
22934	RPIA	HP:0002311	Incoordination	1/1	OMIM:608611
22934	RPIA	HP:0000639	Nystagmus	-	OMIM:608611
22934	RPIA	HP:0000648	Optic atrophy	-	OMIM:608611
22934	RPIA	HP:0025550	Elevated circulating ribitol concentration	20/20	OMIM:608611
22943	DKK1	HP:0008615	Adult onset sensorineural hearing impairment	HP:0040283	ORPHA:268882
22943	DKK1	HP:0001293	Cranial nerve compression	HP:0040282	ORPHA:268882
22943	DKK1	HP:0025258	Stiff neck	HP:0040282	ORPHA:268882
22943	DKK1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:85193
22943	DKK1	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:268882
22943	DKK1	HP:0002512	Brain stem compression	HP:0040283	ORPHA:268882
22943	DKK1	HP:0012046	Areflexia of upper limbs	HP:0040282	ORPHA:268882
22943	DKK1	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:268882
22943	DKK1	HP:0001324	Muscle weakness	HP:0040283	ORPHA:268882
22943	DKK1	HP:0002653	Bone pain	HP:0040281	ORPHA:85193
22943	DKK1	HP:0002650	Scoliosis	HP:0040282	ORPHA:268882
22943	DKK1	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:85193
22943	DKK1	HP:0001437	Abnormality of the musculature of the lower limbs	HP:0040283	ORPHA:268882
22943	DKK1	HP:0002015	Dysphagia	HP:0040282	ORPHA:268882
22943	DKK1	HP:0003396	Syringomyelia	HP:0040282	ORPHA:268882
22943	DKK1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:268882
22943	DKK1	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:268882
22943	DKK1	HP:0004608	Anteriorly placed odontoid process	HP:0040282	ORPHA:268882
22943	DKK1	HP:0004602	Cervical C2/C3 vertebral fusion	HP:0040282	ORPHA:268882
22943	DKK1	HP:0003474	Somatic sensory dysfunction	HP:0040282	ORPHA:268882
22943	DKK1	HP:0003487	Babinski sign	HP:0040283	ORPHA:268882
22943	DKK1	HP:0002196	Myelopathy	HP:0040282	ORPHA:268882
22943	DKK1	HP:0010558	Abnormality of the clivus	HP:0040282	ORPHA:268882
22943	DKK1	HP:0010536	Central sleep apnea	HP:0040283	ORPHA:268882
22943	DKK1	HP:0009591	Abnormal vestibulocochlear nerve morphology	HP:0040282	ORPHA:268882
22943	DKK1	HP:0007099	Chiari type I malformation	HP:0040280	ORPHA:268882
22943	DKK1	HP:0007067	Distal peripheral sensory neuropathy	HP:0040282	ORPHA:268882
22943	DKK1	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:268882
22943	DKK1	HP:0002321	Vertigo	HP:0040282	ORPHA:268882
22943	DKK1	HP:0002315	Headache	HP:0040281	ORPHA:268882
22943	DKK1	HP:0002331	Recurrent paroxysmal headache	HP:0040281	ORPHA:268882
22943	DKK1	HP:0010826	Abnormality of the twelfth cranial nerve	HP:0040282	ORPHA:268882
22943	DKK1	HP:0010825	Abnormality of the eleventh cranial nerve	HP:0040282	ORPHA:268882
22943	DKK1	HP:0006824	Cranial nerve paralysis	HP:0040282	ORPHA:268882
22943	DKK1	HP:0011389	Functional abnormality of the inner ear	HP:0040282	ORPHA:268882
22943	DKK1	HP:0000639	Nystagmus	HP:0040282	ORPHA:268882
22943	DKK1	HP:0000651	Diplopia	HP:0040283	ORPHA:268882
22943	DKK1	HP:0000613	Photophobia	HP:0040283	ORPHA:268882
22943	DKK1	HP:0005758	Basilar impression	HP:0040283	ORPHA:268882
22943	DKK1	HP:0040010	Small posterior fossa	HP:0040281	ORPHA:268882
22943	DKK1	HP:0030833	Neck pain	HP:0040281	ORPHA:268882
22943	DKK1	HP:0000939	Osteoporosis	HP:0040281	ORPHA:85193
22943	DKK1	HP:0002808	Kyphosis	HP:0040283	ORPHA:85193
22943	DKK1	HP:0012366	Basilar invagination	HP:0040283	ORPHA:268882
22943	DKK1	HP:0001605	Vocal cord paralysis	HP:0040282	ORPHA:268882
22943	DKK1	HP:0002949	Fused cervical vertebrae	HP:0040282	ORPHA:268882
22943	DKK1	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040283	ORPHA:268882
22943	DKK1	HP:0000360	Tinnitus	HP:0040282	ORPHA:268882
22943	DKK1	HP:0002953	Vertebral compression fracture	HP:0040282	ORPHA:85193
22943	DKK1	HP:0012534	Dysesthesia	HP:0040282	ORPHA:268882
22947	DUX4L1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0001250	Seizure	HP:0040283	ORPHA:269
22947	DUX4L1	HP:0012037	Pectoralis amyotrophy	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0002650	Scoliosis	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0008959	Distal upper limb muscle weakness	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0004673	Decreased facial expression	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0003307	Hyperlordosis	HP:0040281	ORPHA:269
22947	DUX4L1	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:269
22947	DUX4L1	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:269
22947	DUX4L1	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0003376	Steppage gait	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0100595	Camptocormia	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0003691	Scapular winging	HP:0040281	ORPHA:269
22947	DUX4L1	HP:0002359	Frequent falls	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0009023	Abdominal wall muscle weakness	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0030664	Beevor's sign	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:269
22947	DUX4L1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:269
22947	DUX4L1	HP:0008046	Abnormal retinal vascular morphology	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0000298	Mask-like facies	HP:0040281	ORPHA:269
22947	DUX4L1	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:269
22947	DUX4L1	HP:0030002	Nocturnal lagophthalmos	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0001538	Protuberant abdomen	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0006587	Straight clavicles	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0007898	Exudative retinopathy	HP:0040283	ORPHA:269
22947	DUX4L1	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0000491	Keratitis	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0000509	Conjunctivitis	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0000572	Visual loss	HP:0040283	ORPHA:269
22947	DUX4L1	HP:0012532	Chronic pain	HP:0040282	ORPHA:269
22947	DUX4L1	HP:0000541	Retinal detachment	HP:0040283	ORPHA:269
22948	CCT5	HP:0007328	Impaired pain sensation	HP:0040281	ORPHA:139578
22948	CCT5	HP:0001288	Gait disturbance	HP:0040281	ORPHA:139578
22948	CCT5	HP:0001258	Spastic paraplegia	HP:0040281	ORPHA:139578
22948	CCT5	HP:0001258	Spastic paraplegia	-	OMIM:256840
22948	CCT5	HP:0001257	Spasticity	HP:0040281	ORPHA:139578
22948	CCT5	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:139578
22948	CCT5	HP:0001347	Hyperreflexia	4/4	OMIM:256840
22948	CCT5	HP:0006121	Acral ulceration	-	OMIM:256840
22948	CCT5	HP:0006121	Acral ulceration	HP:0040283	ORPHA:139578
22948	CCT5	HP:0000007	Autosomal recessive inheritance	-	OMIM:256840
22948	CCT5	HP:0012153	Hypotriglyceridemia	2/2	OMIM:256840
22948	CCT5	HP:0002064	Spastic gait	4/4	OMIM:256840
22948	CCT5	HP:0002061	Lower limb spasticity	-	OMIM:256840
22948	CCT5	HP:0003390	Sensory axonal neuropathy	HP:0040282	ORPHA:139578
22948	CCT5	HP:0003477	Peripheral axonal neuropathy	-	OMIM:256840
22948	CCT5	HP:0002143	Abnormal spinal cord morphology	HP:0040282	ORPHA:139578
22948	CCT5	HP:0003487	Babinski sign	HP:0040282	ORPHA:139578
22948	CCT5	HP:0003487	Babinski sign	4/4	OMIM:256840
22948	CCT5	HP:0003431	Decreased motor nerve conduction velocity	HP:0040282	ORPHA:139578
22948	CCT5	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:256840
22948	CCT5	HP:0003409	Distal sensory impairment of all modalities	4/4	OMIM:256840
22948	CCT5	HP:0003409	Distal sensory impairment of all modalities	HP:0040281	ORPHA:139578
22948	CCT5	HP:0002169	Clonus	HP:0040282	ORPHA:139578
22948	CCT5	HP:0002169	Clonus	4/4	OMIM:256840
22948	CCT5	HP:0007020	Progressive spastic paraplegia	HP:0040282	ORPHA:139578
22948	CCT5	HP:0007078	Decreased amplitude of sensory action potentials	4/4	OMIM:256840
22948	CCT5	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:139578
22948	CCT5	HP:0003693	Distal amyotrophy	4/4	OMIM:256840
22948	CCT5	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:139578
22948	CCT5	HP:0200042	Skin ulcer	HP:0040281	ORPHA:139578
22948	CCT5	HP:0006827	Atrophy of the spinal cord	2/2	OMIM:256840
22948	CCT5	HP:0034075	Decreased circulating apolipoprotein B concentration	2/2	OMIM:256840
22948	CCT5	HP:0011463	Childhood onset	4/4	OMIM:256840
22948	CCT5	HP:0002936	Distal sensory impairment	-	OMIM:256840
22948	CCT5	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040281	ORPHA:139578
22948	CCT5	HP:0001760	Abnormal foot morphology	-	OMIM:256840
22948	CCT5	HP:0001886	Foot osteomyelitis	1/4	OMIM:256840
22948	CCT5	HP:0001886	Foot osteomyelitis	HP:0040283	ORPHA:139578
22953	P2RX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:608224
22953	P2RX2	HP:0003621	Juvenile onset	-	OMIM:608224
22953	P2RX2	HP:0000360	Tinnitus	-	OMIM:608224
22953	P2RX2	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:608224
22953	P2RX2	HP:0025708	Early young adult onset	-	OMIM:608224
22954	TRIM32	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
22954	TRIM32	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
22954	TRIM32	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
22954	TRIM32	HP:0003749	Pelvic girdle muscle weakness	-	OMIM:254110
22954	TRIM32	HP:0003731	Quadriceps muscle weakness	-	OMIM:254110
22954	TRIM32	HP:0003724	Shoulder girdle muscle atrophy	-	OMIM:254110
22954	TRIM32	HP:0003722	Neck flexor weakness	-	OMIM:254110
22954	TRIM32	HP:0003738	Exercise-induced myalgia	-	OMIM:254110
22954	TRIM32	HP:0003707	Calf muscle pseudohypertrophy	-	OMIM:254110
22954	TRIM32	HP:0003701	Proximal muscle weakness	2/2	OMIM:254110
22954	TRIM32	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1878
22954	TRIM32	HP:0001284	Areflexia	-	OMIM:254110
22954	TRIM32	HP:0001250	Seizure	HP:0040283	ORPHA:110
22954	TRIM32	HP:0001251	Ataxia	HP:0040283	ORPHA:110
22954	TRIM32	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
22954	TRIM32	HP:0001265	Hyporeflexia	-	OMIM:254110
22954	TRIM32	HP:0001257	Spasticity	HP:0040283	ORPHA:110
22954	TRIM32	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
22954	TRIM32	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
22954	TRIM32	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
22954	TRIM32	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
22954	TRIM32	HP:0002515	Waddling gait	HP:0040281	ORPHA:1878
22954	TRIM32	HP:0002515	Waddling gait	-	OMIM:254110
22954	TRIM32	HP:0002505	Loss of ambulation	1/2	OMIM:254110
22954	TRIM32	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000098	Tall stature	HP:0040282	ORPHA:1878
22954	TRIM32	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
22954	TRIM32	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000077	Abnormality of the kidney	-	OMIM:615988
22954	TRIM32	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
22954	TRIM32	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
22954	TRIM32	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000007	Autosomal recessive inheritance	-	OMIM:615988
22954	TRIM32	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
22954	TRIM32	HP:0000007	Autosomal recessive inheritance	-	OMIM:254110
22954	TRIM32	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
22954	TRIM32	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
22954	TRIM32	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
22954	TRIM32	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000135	Hypogonadism	-	OMIM:615988
22954	TRIM32	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
22954	TRIM32	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
22954	TRIM32	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040281	ORPHA:1878
22954	TRIM32	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
22954	TRIM32	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
22954	TRIM32	HP:0008988	Pelvic girdle muscle atrophy	-	OMIM:254110
22954	TRIM32	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
22954	TRIM32	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
22954	TRIM32	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
22954	TRIM32	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
22954	TRIM32	HP:0002099	Asthma	HP:0040283	ORPHA:110
22954	TRIM32	HP:0003391	Gowers sign	-	OMIM:254110
22954	TRIM32	HP:0010442	Polydactyly	-	OMIM:615988
22954	TRIM32	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
22954	TRIM32	HP:0003457	EMG abnormality	HP:0040281	ORPHA:1878
22954	TRIM32	HP:0003458	EMG: myopathic abnormalities	1/1	OMIM:254110
22954	TRIM32	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
22954	TRIM32	HP:0003401	Paresthesia	1/2	OMIM:254110
22954	TRIM32	HP:0003577	Congenital onset	-	OMIM:615988
22954	TRIM32	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
22954	TRIM32	HP:0003547	Shoulder girdle muscle weakness	-	OMIM:254110
22954	TRIM32	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
22954	TRIM32	HP:0003560	Muscular dystrophy	-	OMIM:254110
22954	TRIM32	HP:0003557	Increased variability in muscle fiber diameter	HP:0040281	ORPHA:1878
22954	TRIM32	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:254110
22954	TRIM32	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
22954	TRIM32	HP:0010628	Facial palsy	-	OMIM:254110
22954	TRIM32	HP:0003687	Centrally nucleated skeletal muscle fibers	-	OMIM:254110
22954	TRIM32	HP:0003677	Slowly progressive	-	OMIM:254110
22954	TRIM32	HP:0007126	Proximal amyotrophy	2/2	OMIM:254110
22954	TRIM32	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
22954	TRIM32	HP:0003621	Juvenile onset	8/19	OMIM:180100
22954	TRIM32	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
22954	TRIM32	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000618	Blindness	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000613	Photophobia	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000691	Microdontia	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000662	Nyctalopia	26/28	OMIM:180100
22954	TRIM32	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
22954	TRIM32	HP:0004322	Short stature	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000739	Anxiety	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000736	Short attention span	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000716	Depression	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000717	Autism	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
22954	TRIM32	HP:0011463	Childhood onset	3/19	OMIM:180100
22954	TRIM32	HP:0011462	Young adult onset	8/19	OMIM:180100
22954	TRIM32	HP:0011462	Young adult onset	2/2	OMIM:254110
22954	TRIM32	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
22954	TRIM32	HP:0000789	Infertility	HP:0040283	ORPHA:110
22954	TRIM32	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
22954	TRIM32	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
22954	TRIM32	HP:0003198	Myopathy	HP:0040281	ORPHA:1878
22954	TRIM32	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000822	Hypertension	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
22954	TRIM32	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:1878
22954	TRIM32	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:254110
22954	TRIM32	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
22954	TRIM32	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
22954	TRIM32	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000298	Mask-like facies	HP:0040281	ORPHA:1878
22954	TRIM32	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
22954	TRIM32	HP:0000218	High palate	HP:0040282	ORPHA:110
22954	TRIM32	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
22954	TRIM32	HP:0001513	Obesity	HP:0040281	ORPHA:110
22954	TRIM32	HP:0001513	Obesity	-	OMIM:615988
22954	TRIM32	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
22954	TRIM32	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
22954	TRIM32	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
22954	TRIM32	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000388	Otitis media	HP:0040283	ORPHA:110
22954	TRIM32	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
22954	TRIM32	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
22954	TRIM32	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
22954	TRIM32	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
22954	TRIM32	HP:0000400	Macrotia	HP:0040283	ORPHA:110
22954	TRIM32	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000486	Strabismus	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000488	Retinopathy	-	OMIM:615988
22954	TRIM32	HP:0000470	Short neck	HP:0040283	ORPHA:110
22954	TRIM32	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000518	Cataract	HP:0040283	ORPHA:110
22954	TRIM32	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
22954	TRIM32	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000575	Scotoma	5/18	OMIM:180100
22954	TRIM32	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
22954	TRIM32	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
22954	TRIM32	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
22954	TRIM32	HP:0000543	Optic disc pallor	1/1	OMIM:180100
22954	TRIM32	HP:0000545	Myopia	-	OMIM:180100
22978	NT5C2	HP:0001270	Motor delay	HP:0040282	ORPHA:320396
22978	NT5C2	HP:0001270	Motor delay	2/2	OMIM:613162
22978	NT5C2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:320396
22978	NT5C2	HP:0001249	Intellectual disability	5/12	OMIM:613162
22978	NT5C2	HP:0001260	Dysarthria	2/2	OMIM:613162
22978	NT5C2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:320396
22978	NT5C2	HP:0001263	Global developmental delay	2/2	OMIM:613162
22978	NT5C2	HP:0001258	Spastic paraplegia	HP:0040281	ORPHA:320396
22978	NT5C2	HP:0001258	Spastic paraplegia	9/9	OMIM:613162
22978	NT5C2	HP:0012043	Pendular nystagmus	HP:0040282	ORPHA:320396
22978	NT5C2	HP:0001371	Flexion contracture	-	OMIM:613162
22978	NT5C2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:320396
22978	NT5C2	HP:0001347	Hyperreflexia	10/10	OMIM:613162
22978	NT5C2	HP:0033725	Thin corpus callosum	2/2	OMIM:613162
22978	NT5C2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613162
22978	NT5C2	HP:0008936	Axial hypotonia	2/2	OMIM:613162
22978	NT5C2	HP:0002064	Spastic gait	HP:0040281	ORPHA:320396
22978	NT5C2	HP:0002064	Spastic gait	1/1	OMIM:613162
22978	NT5C2	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:320396
22978	NT5C2	HP:0002061	Lower limb spasticity	2/2	OMIM:613162
22978	NT5C2	HP:0002079	Hypoplasia of the corpus callosum	5/8	OMIM:613162
22978	NT5C2	HP:0002059	Cerebral atrophy	1/2	OMIM:613162
22978	NT5C2	HP:0003487	Babinski sign	HP:0040281	ORPHA:320396
22978	NT5C2	HP:0003487	Babinski sign	10/10	OMIM:613162
22978	NT5C2	HP:0003593	Infantile onset	2/2	OMIM:613162
22978	NT5C2	HP:0003621	Juvenile onset	4/10	OMIM:613162
22978	NT5C2	HP:0000639	Nystagmus	-	OMIM:613162
22978	NT5C2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:320396
22978	NT5C2	HP:0000648	Optic atrophy	1/10	OMIM:613162
22978	NT5C2	HP:0006989	Dysplastic corpus callosum	2/8	OMIM:613162
22978	NT5C2	HP:0000750	Delayed speech and language development	2/2	OMIM:613162
22978	NT5C2	HP:0011463	Childhood onset	2/10	OMIM:613162
22978	NT5C2	HP:0011462	Young adult onset	4/10	OMIM:613162
22978	NT5C2	HP:0011448	Ankle clonus	2/2	OMIM:613162
22978	NT5C2	HP:0003202	Skeletal muscle atrophy	8/10	OMIM:613162
22978	NT5C2	HP:0005830	Flexion contracture of toe	HP:0040281	ORPHA:320396
22978	NT5C2	HP:0006466	Ankle flexion contracture	HP:0040281	ORPHA:320396
22978	NT5C2	HP:0006380	Knee flexion contracture	HP:0040281	ORPHA:320396
22978	NT5C2	HP:0030051	Tip-toe gait	1/1	OMIM:613162
22978	NT5C2	HP:0000486	Strabismus	1/10	OMIM:613162
22978	NT5C2	HP:0001762	Talipes equinovarus	2/2	OMIM:613162
22978	NT5C2	HP:0000545	Myopia	HP:0040283	ORPHA:320396
22978	NT5C2	HP:0000545	Myopia	-	OMIM:613162
22983	MAST1	HP:0009879	Simplified gyral pattern	4/6	OMIM:618273
22983	MAST1	HP:0001290	Generalized hypotonia	4/6	OMIM:618273
22983	MAST1	HP:0001250	Seizure	2/6	OMIM:618273
22983	MAST1	HP:0001249	Intellectual disability	3/3	OMIM:618273
22983	MAST1	HP:0001263	Global developmental delay	-	OMIM:618273
22983	MAST1	HP:0002540	Inability to walk	3/6	OMIM:618273
22983	MAST1	HP:0001344	Absent speech	5/6	OMIM:618273
22983	MAST1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618273
22983	MAST1	HP:0001320	Cerebellar vermis hypoplasia	3/6	OMIM:618273
22983	MAST1	HP:0001321	Cerebellar hypoplasia	5/6	OMIM:618273
22983	MAST1	HP:0002078	Truncal ataxia	1/6	OMIM:618273
22983	MAST1	HP:0002119	Ventriculomegaly	6/6	OMIM:618273
22983	MAST1	HP:0003593	Infantile onset	6/6	OMIM:618273
22983	MAST1	HP:0007074	Thick corpus callosum	6/6	OMIM:618273
22983	MAST1	HP:0002365	Hypoplasia of the brainstem	4/6	OMIM:618273
22983	MAST1	HP:0002317	Unsteady gait	1/3	OMIM:618273
22983	MAST1	HP:0007165	Periventricular heterotopia	1/6	OMIM:618273
22983	MAST1	HP:0000657	Oculomotor apraxia	1/6	OMIM:618273
22983	MAST1	HP:0004322	Short stature	2/6	OMIM:618273
22995	CEP152	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
22995	CEP152	HP:0009879	Simplified gyral pattern	5/5	OMIM:613823
22995	CEP152	HP:0009879	Simplified gyral pattern	11/11	OMIM:614852
22995	CEP152	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
22995	CEP152	HP:0001293	Cranial nerve compression	-	OMIM:131300
22995	CEP152	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
22995	CEP152	HP:0001250	Seizure	0/3	OMIM:614852
22995	CEP152	HP:0001252	Hypotonia	2/7	OMIM:615777
22995	CEP152	HP:0001249	Intellectual disability	HP:0040281	ORPHA:808
22995	CEP152	HP:0001249	Intellectual disability	8/8	OMIM:613823
22995	CEP152	HP:0001249	Intellectual disability	5/7	OMIM:615777
22995	CEP152	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
22995	CEP152	HP:0001263	Global developmental delay	-	OMIM:615777
22995	CEP152	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
22995	CEP152	HP:0008665	Clitoral hypertrophy	2/3	OMIM:613823
22995	CEP152	HP:0002536	Abnormal cortical gyration	-	OMIM:613823
22995	CEP152	HP:0002515	Waddling gait	54/102	OMIM:131300
22995	CEP152	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
22995	CEP152	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:808
22995	CEP152	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:808
22995	CEP152	HP:0001382	Joint hypermobility	-	OMIM:615777
22995	CEP152	HP:0000047	Hypospadias	1/5	OMIM:613823
22995	CEP152	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
22995	CEP152	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:808
22995	CEP152	HP:0002694	Sclerosis of skull base	-	OMIM:131300
22995	CEP152	HP:0000028	Cryptorchidism	2/5	OMIM:613823
22995	CEP152	HP:0008897	Postnatal growth retardation	-	OMIM:615777
22995	CEP152	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:808
22995	CEP152	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
22995	CEP152	HP:0001324	Muscle weakness	40/96	OMIM:131300
22995	CEP152	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
22995	CEP152	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
22995	CEP152	HP:0000007	Autosomal recessive inheritance	-	OMIM:613823
22995	CEP152	HP:0000007	Autosomal recessive inheritance	-	OMIM:614852
22995	CEP152	HP:0001335	Bimanual synkinesia	3/3	OMIM:614852
22995	CEP152	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
22995	CEP152	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
22995	CEP152	HP:0002650	Scoliosis	HP:0040283	ORPHA:808
22995	CEP152	HP:0002650	Scoliosis	1/7	OMIM:613823
22995	CEP152	HP:0002650	Scoliosis	12/14	OMIM:131300
22995	CEP152	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
22995	CEP152	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
22995	CEP152	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
22995	CEP152	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
22995	CEP152	HP:0000175	Cleft palate	1/8	OMIM:613823
22995	CEP152	HP:0000175	Cleft palate	2/7	OMIM:615777
22995	CEP152	HP:0006297	Enamel hypoplasia	2/6	OMIM:613823
22995	CEP152	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
22995	CEP152	HP:0002750	Delayed skeletal maturation	4/6	OMIM:613823
22995	CEP152	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:808
22995	CEP152	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:808
22995	CEP152	HP:0003388	Easy fatigability	36/76	OMIM:131300
22995	CEP152	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
22995	CEP152	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
22995	CEP152	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:808
22995	CEP152	HP:0003577	Congenital onset	8/8	OMIM:613823
22995	CEP152	HP:0100710	Impulsivity	3/3	OMIM:614852
22995	CEP152	HP:0100716	Self-injurious behavior	2/2	OMIM:614852
22995	CEP152	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:808
22995	CEP152	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
22995	CEP152	HP:0003510	Severe short stature	7/7	OMIM:615777
22995	CEP152	HP:0002315	Headache	-	OMIM:131300
22995	CEP152	HP:0004976	Knee dislocation	6/7	OMIM:615777
22995	CEP152	HP:0009804	Tooth agenesis	HP:0040282	ORPHA:808
22995	CEP152	HP:0009803	Short phalanx of finger	-	OMIM:615777
22995	CEP152	HP:0009763	Limb pain	63/92	OMIM:131300
22995	CEP152	HP:0003621	Juvenile onset	-	OMIM:131300
22995	CEP152	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
22995	CEP152	HP:0004209	Clinodactyly of the 5th finger	7/7	OMIM:613823
22995	CEP152	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:808
22995	CEP152	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
22995	CEP152	HP:6001056	Out-toeing	-	OMIM:131300
22995	CEP152	HP:0000651	Diplopia	-	OMIM:131300
22995	CEP152	HP:0001956	Truncal obesity	2/7	OMIM:615777
22995	CEP152	HP:0001903	Anemia	HP:0040283	OMIM:131300
22995	CEP152	HP:0010049	Short metacarpal	-	OMIM:615777
22995	CEP152	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:808
22995	CEP152	HP:0011342	Mild global developmental delay	HP:0040281	ORPHA:808
22995	CEP152	HP:0000678	Dental crowding	-	OMIM:615777
22995	CEP152	HP:0000677	Oligodontia	1/6	OMIM:613823
22995	CEP152	HP:0000670	Carious teeth	-	OMIM:131300
22995	CEP152	HP:0011304	Broad thumb	2/7	OMIM:615777
22995	CEP152	HP:0000668	Hypodontia	-	OMIM:615777
22995	CEP152	HP:0000668	Hypodontia	1/6	OMIM:613823
22995	CEP152	HP:0000664	Synophrys	-	OMIM:615777
22995	CEP152	HP:0004322	Short stature	HP:0040281	ORPHA:808
22995	CEP152	HP:0004322	Short stature	8/8	OMIM:613823
22995	CEP152	HP:0004322	Short stature	HP:0040281	ORPHA:2512
22995	CEP152	HP:0004326	Cachexia	HP:0040281	ORPHA:808
22995	CEP152	HP:0004396	Poor appetite	-	OMIM:131300
22995	CEP152	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
22995	CEP152	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
22995	CEP152	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
22995	CEP152	HP:0003026	Short long bone	7/7	OMIM:615777
22995	CEP152	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
22995	CEP152	HP:0000767	Pectus excavatum	2/7	OMIM:615777
22995	CEP152	HP:0000768	Pectus carinatum	1/7	OMIM:615777
22995	CEP152	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
22995	CEP152	HP:0100034	Motor tics	1/3	OMIM:614852
22995	CEP152	HP:0000750	Delayed speech and language development	-	OMIM:615777
22995	CEP152	HP:0000718	Aggressive behavior	3/3	OMIM:614852
22995	CEP152	HP:0000722	Compulsive behaviors	1/3	OMIM:614852
22995	CEP152	HP:0011461	Fetal onset	7/7	OMIM:615777
22995	CEP152	HP:0000774	Narrow chest	2/7	OMIM:615777
22995	CEP152	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
22995	CEP152	HP:0000926	Platyspondyly	1/7	OMIM:615777
22995	CEP152	HP:0003180	Flat acetabular roof	-	OMIM:615777
22995	CEP152	HP:0004482	Relative macrocephaly	-	OMIM:615777
22995	CEP152	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
22995	CEP152	HP:0000878	11 pairs of ribs	5/6	OMIM:613823
22995	CEP152	HP:0000823	Delayed puberty	-	OMIM:131300
22995	CEP152	HP:0000894	Short clavicles	-	OMIM:615777
22995	CEP152	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
22995	CEP152	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
22995	CEP152	HP:0005819	Short middle phalanx of finger	0/7	OMIM:613823
22995	CEP152	HP:0000286	Epicanthus	1/7	OMIM:615777
22995	CEP152	HP:0000280	Coarse facial features	2/7	OMIM:615777
22995	CEP152	HP:0000278	Retrognathia	-	OMIM:613823
22995	CEP152	HP:0001592	Selective tooth agenesis	5/6	OMIM:613823
22995	CEP152	HP:0000275	Narrow face	HP:0040281	ORPHA:808
22995	CEP152	HP:0002827	Hip dislocation	3/7	OMIM:615777
22995	CEP152	HP:0000252	Microcephaly	HP:0040281	ORPHA:808
22995	CEP152	HP:0000252	Microcephaly	-	OMIM:613823
22995	CEP152	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
22995	CEP152	HP:0000252	Microcephaly	5/5	OMIM:614852
22995	CEP152	HP:0000252	Microcephaly	-	OMIM:615777
22995	CEP152	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
22995	CEP152	HP:0000218	High palate	7/8	OMIM:613823
22995	CEP152	HP:0002857	Genu valgum	-	OMIM:131300
22995	CEP152	HP:0001533	Slender build	-	OMIM:131300
22995	CEP152	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:808
22995	CEP152	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
22995	CEP152	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
22995	CEP152	HP:0007807	Optic nerve compression	-	OMIM:131300
22995	CEP152	HP:0000387	Absent earlobe	HP:0040282	ORPHA:808
22995	CEP152	HP:0012368	Flat face	7/7	OMIM:615777
22995	CEP152	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
22995	CEP152	HP:0000363	Abnormal earlobe morphology	HP:0040282	ORPHA:808
22995	CEP152	HP:0000365	Hearing impairment	10/67	OMIM:131300
22995	CEP152	HP:0000369	Low-set ears	6/8	OMIM:613823
22995	CEP152	HP:0000340	Sloping forehead	8/8	OMIM:613823
22995	CEP152	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
22995	CEP152	HP:0000343	Long philtrum	1/7	OMIM:615777
22995	CEP152	HP:0011001	Increased bone mineral density	-	OMIM:131300
22995	CEP152	HP:0000347	Micrognathia	HP:0040281	ORPHA:808
22995	CEP152	HP:0000347	Micrognathia	8/8	OMIM:613823
22995	CEP152	HP:0000311	Round face	2/7	OMIM:615777
22995	CEP152	HP:0000324	Facial asymmetry	2/8	OMIM:613823
22995	CEP152	HP:0002970	Genu varum	-	OMIM:615777
22995	CEP152	HP:0000303	Mandibular prognathia	-	OMIM:131300
22995	CEP152	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
22995	CEP152	HP:0000486	Strabismus	2/8	OMIM:613823
22995	CEP152	HP:0000494	Downslanted palpebral fissures	6/8	OMIM:613823
22995	CEP152	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:808
22995	CEP152	HP:0000470	Short neck	1/7	OMIM:615777
22995	CEP152	HP:0001769	Broad foot	HP:0040283	OMIM:615777
22995	CEP152	HP:0001763	Pes planus	1/7	OMIM:615777
22995	CEP152	HP:0001763	Pes planus	4/7	OMIM:613823
22995	CEP152	HP:0000444	Convex nasal ridge	8/8	OMIM:613823
22995	CEP152	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:808
22995	CEP152	HP:0000426	Prominent nasal bridge	-	OMIM:613823
22995	CEP152	HP:0001840	Metatarsus adductus	-	OMIM:615777
22995	CEP152	HP:0001852	Sandal gap	HP:0040281	ORPHA:808
22995	CEP152	HP:0000520	Proptosis	2/4	OMIM:131300
22995	CEP152	HP:0000520	Proptosis	7/7	OMIM:615777
22995	CEP152	HP:0000501	Glaucoma	HP:0040282	ORPHA:808
22995	CEP152	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
22995	CEP152	HP:0000581	Blepharophimosis	3/8	OMIM:613823
22995	CEP152	HP:0000592	Blue sclerae	2/7	OMIM:615777
22995	CEP152	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
22995	CEP152	HP:0012514	Lower limb pain	4/4	OMIM:131300
22999	RIMS1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
22999	RIMS1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
22999	RIMS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
22999	RIMS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
22999	RIMS1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
22999	RIMS1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
22999	RIMS1	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
22999	RIMS1	HP:0003621	Juvenile onset	8/19	OMIM:180100
22999	RIMS1	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
22999	RIMS1	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
22999	RIMS1	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
22999	RIMS1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
22999	RIMS1	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
22999	RIMS1	HP:0000662	Nyctalopia	26/28	OMIM:180100
22999	RIMS1	HP:0011463	Childhood onset	3/19	OMIM:180100
22999	RIMS1	HP:0011462	Young adult onset	8/19	OMIM:180100
22999	RIMS1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
22999	RIMS1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
22999	RIMS1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
22999	RIMS1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
22999	RIMS1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
22999	RIMS1	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
22999	RIMS1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
22999	RIMS1	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
22999	RIMS1	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
22999	RIMS1	HP:0000575	Scotoma	5/18	OMIM:180100
22999	RIMS1	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
22999	RIMS1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
22999	RIMS1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
22999	RIMS1	HP:0000545	Myopia	-	OMIM:180100
23001	WDFY3	HP:0001249	Intellectual disability	10/10	OMIM:617520
23001	WDFY3	HP:0000006	Autosomal dominant inheritance	-	OMIM:617520
23001	WDFY3	HP:0001999	Abnormal facial shape	0/10	OMIM:617520
23001	WDFY3	HP:0000252	Microcephaly	10/10	OMIM:617520
23005	MAPKBP1	HP:0003774	Stage 5 chronic kidney disease	5/8	OMIM:617271
23005	MAPKBP1	HP:0000083	Renal insufficiency	8/8	OMIM:617271
23005	MAPKBP1	HP:0000090	Nephronophthisis	8/8	OMIM:617271
23005	MAPKBP1	HP:0000076	Vesicoureteral reflux	1/8	OMIM:617271
23005	MAPKBP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617271
23005	MAPKBP1	HP:0002650	Scoliosis	3/8	OMIM:617271
23005	MAPKBP1	HP:0000107	Renal cyst	-	OMIM:617271
23005	MAPKBP1	HP:0003676	Progressive	-	OMIM:617271
23005	MAPKBP1	HP:0003621	Juvenile onset	-	OMIM:617271
23005	MAPKBP1	HP:0011462	Young adult onset	-	OMIM:617271
23007	PLCH1	HP:0002465	Poor speech	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0009932	Single naris	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0009914	Cyclopia	2/4	OMIM:619895
23007	PLCH1	HP:0009914	Cyclopia	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0010883	Aortic valve atresia	1/4	OMIM:619895
23007	PLCH1	HP:0002416	Subependymal cysts	1/4	OMIM:619895
23007	PLCH1	HP:0002410	Aqueductal stenosis	1/4	OMIM:619895
23007	PLCH1	HP:0007291	Posterior fossa cyst	1/4	OMIM:619895
23007	PLCH1	HP:0001290	Generalized hypotonia	1/4	OMIM:619895
23007	PLCH1	HP:0001272	Cerebellar atrophy	1/4	OMIM:619895
23007	PLCH1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0001254	Lethargy	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0001250	Seizure	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0001263	Global developmental delay	1/4	OMIM:619895
23007	PLCH1	HP:0001257	Spasticity	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0002540	Inability to walk	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0032327	Interhemispheric cyst	1/4	OMIM:619895
23007	PLCH1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0001360	Holoprosencephaly	3/4	OMIM:619895
23007	PLCH1	HP:0001331	Absent septum pellucidum	1/4	OMIM:619895
23007	PLCH1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0001344	Absent speech	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0001338	Partial agenesis of the corpus callosum	1/4	OMIM:619895
23007	PLCH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619895
23007	PLCH1	HP:0001305	Dandy-Walker malformation	1/4	OMIM:619895
23007	PLCH1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0000161	Median cleft upper lip	1/4	OMIM:619895
23007	PLCH1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0000175	Cleft palate	1/4	OMIM:619895
23007	PLCH1	HP:0410030	Cleft lip	3/4	OMIM:619895
23007	PLCH1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0008947	Floppy infant	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0002019	Constipation	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0002033	Poor suck	HP:0040281	ORPHA:93925
23007	PLCH1	HP:0002015	Dysphagia	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0002013	Vomiting	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0002007	Frontal bossing	1/4	OMIM:619895
23007	PLCH1	HP:0005968	Temperature instability	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0002069	Bilateral tonic-clonic seizure	1/4	OMIM:619895
23007	PLCH1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0002119	Ventriculomegaly	2/4	OMIM:619895
23007	PLCH1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0002282	Gray matter heterotopia	1/4	OMIM:619895
23007	PLCH1	HP:0002280	Enlarged cisterna magna	1/4	OMIM:619895
23007	PLCH1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93925
23007	PLCH1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0002353	EEG abnormality	1/4	OMIM:619895
23007	PLCH1	HP:0007165	Periventricular heterotopia	1/4	OMIM:619895
23007	PLCH1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93925
23007	PLCH1	HP:0006988	Alobar holoprosencephaly	1/4	OMIM:619895
23007	PLCH1	HP:0004322	Short stature	HP:0040281	ORPHA:93925
23007	PLCH1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0000737	Irritability	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0000739	Anxiety	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0000741	Apathy	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0000716	Depression	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0011461	Fetal onset	4/4	OMIM:619895
23007	PLCH1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0012806	Proboscis	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0012806	Proboscis	2/4	OMIM:619895
23007	PLCH1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0000256	Macrocephaly	1/4	OMIM:619895
23007	PLCH1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0000238	Hydrocephalus	3/4	OMIM:619895
23007	PLCH1	HP:0000252	Microcephaly	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0000252	Microcephaly	1/4	OMIM:619895
23007	PLCH1	HP:0000218	High palate	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0002871	Central apnea	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93925
23007	PLCH1	HP:0001510	Growth delay	HP:0040281	ORPHA:93925
23007	PLCH1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0000369	Low-set ears	1/4	OMIM:619895
23007	PLCH1	HP:0001629	Ventricular septal defect	2/4	OMIM:619895
23007	PLCH1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93925
23007	PLCH1	HP:0002951	Partial absence of cerebellar vermis	1/4	OMIM:619895
23007	PLCH1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93925
23007	PLCH1	HP:0000400	Macrotia	1/4	OMIM:619895
23007	PLCH1	HP:0001719	Double outlet right ventricle	1/4	OMIM:619895
23007	PLCH1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93925
23007	PLCH1	HP:0000463	Anteverted nares	1/4	OMIM:619895
23007	PLCH1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93925
23013	SPEN	HP:0001182	Tapered finger	2/32	OMIM:619312
23013	SPEN	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1606
23013	SPEN	HP:0001156	Brachydactyly	5/30	OMIM:619312
23013	SPEN	HP:0025116	Fetal distress	3/32	OMIM:619312
23013	SPEN	HP:0002465	Poor speech	HP:0040281	ORPHA:1606
23013	SPEN	HP:0001107	Ocular albinism	HP:0040283	ORPHA:1606
23013	SPEN	HP:0009890	High anterior hairline	5/32	OMIM:619312
23013	SPEN	HP:0008551	Microtia	HP:0040283	ORPHA:1606
23013	SPEN	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:1606
23013	SPEN	HP:0001274	Agenesis of corpus callosum	3/32	OMIM:619312
23013	SPEN	HP:0001270	Motor delay	8/32	OMIM:619312
23013	SPEN	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1606
23013	SPEN	HP:0001250	Seizure	HP:0040282	ORPHA:1606
23013	SPEN	HP:0001250	Seizure	19/64	OMIM:619312
23013	SPEN	HP:0001252	Hypotonia	HP:0040281	ORPHA:1606
23013	SPEN	HP:0001252	Hypotonia	22/30	OMIM:619312
23013	SPEN	HP:0001251	Ataxia	2/32	OMIM:619312
23013	SPEN	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1606
23013	SPEN	HP:0001249	Intellectual disability	33/33	OMIM:619312
23013	SPEN	HP:0002591	Polyphagia	HP:0040283	ORPHA:1606
23013	SPEN	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1606
23013	SPEN	HP:0001263	Global developmental delay	33/33	OMIM:619312
23013	SPEN	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:1606
23013	SPEN	HP:0002553	Highly arched eyebrow	5/32	OMIM:619312
23013	SPEN	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:1606
23013	SPEN	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000055	Abnormal female external genitalia morphology	HP:0040283	ORPHA:1606
23013	SPEN	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:1606
23013	SPEN	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000047	Hypospadias	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1606
23013	SPEN	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:1606
23013	SPEN	HP:0001344	Absent speech	HP:0040281	ORPHA:1606
23013	SPEN	HP:0001344	Absent speech	2/32	OMIM:619312
23013	SPEN	HP:0001337	Tremor	3/32	OMIM:619312
23013	SPEN	HP:0000006	Autosomal dominant inheritance	-	OMIM:619312
23013	SPEN	HP:0002650	Scoliosis	HP:0040283	ORPHA:1606
23013	SPEN	HP:0002650	Scoliosis	2/32	OMIM:619312
23013	SPEN	HP:0000160	Narrow mouth	HP:0040282	ORPHA:1606
23013	SPEN	HP:0000135	Hypogonadism	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000154	Wide mouth	3/32	OMIM:619312
23013	SPEN	HP:0002705	High, narrow palate	4/32	OMIM:619312
23013	SPEN	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000107	Renal cyst	HP:0040283	ORPHA:1606
23013	SPEN	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:1606
23013	SPEN	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:1606
23013	SPEN	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:1606
23013	SPEN	HP:0002020	Gastroesophageal reflux	3/32	OMIM:619312
23013	SPEN	HP:0002019	Constipation	HP:0040282	ORPHA:1606
23013	SPEN	HP:0002019	Constipation	4/32	OMIM:619312
23013	SPEN	HP:0002015	Dysphagia	HP:0040282	ORPHA:1606
23013	SPEN	HP:0002015	Dysphagia	3/32	OMIM:619312
23013	SPEN	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1606
23013	SPEN	HP:0002007	Frontal bossing	3/32	OMIM:619312
23013	SPEN	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1606
23013	SPEN	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:1606
23013	SPEN	HP:0002141	Gait imbalance	14/27	OMIM:619312
23013	SPEN	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1606
23013	SPEN	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1606
23013	SPEN	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:1606
23013	SPEN	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1606
23013	SPEN	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1606
23013	SPEN	HP:0002242	Abnormal intestine morphology	HP:0040283	ORPHA:1606
23013	SPEN	HP:0100710	Impulsivity	2/32	OMIM:619312
23013	SPEN	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:1606
23013	SPEN	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:1606
23013	SPEN	HP:0009748	Large earlobe	3/32	OMIM:619312
23013	SPEN	HP:0002282	Gray matter heterotopia	2/32	OMIM:619312
23013	SPEN	HP:0007018	Attention deficit hyperactivity disorder	3/32	OMIM:619312
23013	SPEN	HP:0001065	Striae distensae	2/32	OMIM:619312
23013	SPEN	HP:0001028	Hemangioma	4/32	OMIM:619312
23013	SPEN	HP:0001009	Telangiectasia	HP:0040283	ORPHA:1606
23013	SPEN	HP:0001007	Hirsutism	2/32	OMIM:619312
23013	SPEN	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1606
23013	SPEN	HP:0008499	High hypermetropia	HP:0040282	ORPHA:1606
23013	SPEN	HP:0002307	Drooling	2/32	OMIM:619312
23013	SPEN	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1606
23013	SPEN	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000639	Nystagmus	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000637	Long palpebral fissure	2/32	OMIM:619312
23013	SPEN	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000629	Periorbital fullness	4/32	OMIM:619312
23013	SPEN	HP:0000678	Dental crowding	2/32	OMIM:619312
23013	SPEN	HP:0000664	Synophrys	9/32	OMIM:619312
23013	SPEN	HP:0004322	Short stature	HP:0040283	ORPHA:1606
23013	SPEN	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1606
23013	SPEN	HP:0004378	Abnormality of the anus	HP:0040283	ORPHA:1606
23013	SPEN	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:1606
23013	SPEN	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:1606
23013	SPEN	HP:0012733	Macule	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:1606
23013	SPEN	HP:0000733	Motor stereotypy	13/28	OMIM:619312
23013	SPEN	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:1606
23013	SPEN	HP:0000750	Delayed speech and language development	9/32	OMIM:619312
23013	SPEN	HP:0000718	Aggressive behavior	11/32	OMIM:619312
23013	SPEN	HP:0000717	Autism	HP:0040282	ORPHA:1606
23013	SPEN	HP:0000729	Autistic behavior	18/28	OMIM:619312
23013	SPEN	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1606
23013	SPEN	HP:0003198	Myopathy	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000902	Rib fusion	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000878	11 pairs of ribs	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000892	Bifid ribs	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000817	Reduced eye contact	3/32	OMIM:619312
23013	SPEN	HP:0000826	Precocious puberty	4/18	OMIM:619312
23013	SPEN	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1606
23013	SPEN	HP:0004523	Long eyebrows	2/32	OMIM:619312
23013	SPEN	HP:0000958	Dry skin	6/29	OMIM:619312
23013	SPEN	HP:0045025	Narrow palpebral fissure	3/32	OMIM:619312
23013	SPEN	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000286	Epicanthus	HP:0040282	ORPHA:1606
23013	SPEN	HP:0000286	Epicanthus	11/32	OMIM:619312
23013	SPEN	HP:0000280	Coarse facial features	2/32	OMIM:619312
23013	SPEN	HP:0000278	Retrognathia	2/32	OMIM:619312
23013	SPEN	HP:0000294	Low anterior hairline	2/32	OMIM:619312
23013	SPEN	HP:0000276	Long face	3/32	OMIM:619312
23013	SPEN	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:1606
23013	SPEN	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:1606
23013	SPEN	HP:0002808	Kyphosis	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000252	Microcephaly	HP:0040282	ORPHA:1606
23013	SPEN	HP:0000252	Microcephaly	4/32	OMIM:619312
23013	SPEN	HP:0000248	Brachycephaly	HP:0040282	ORPHA:1606
23013	SPEN	HP:0000219	Thin upper lip vermilion	5/32	OMIM:619312
23013	SPEN	HP:0000218	High palate	4/32	OMIM:619312
23013	SPEN	HP:0001508	Failure to thrive	HP:0040281	ORPHA:1606
23013	SPEN	HP:0001513	Obesity	HP:0040283	ORPHA:1606
23013	SPEN	HP:0001513	Obesity	2/32	OMIM:619312
23013	SPEN	HP:0000365	Hearing impairment	3/31	OMIM:619312
23013	SPEN	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1606
23013	SPEN	HP:0000369	Low-set ears	2/32	OMIM:619312
23013	SPEN	HP:0000341	Narrow forehead	6/32	OMIM:619312
23013	SPEN	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000343	Long philtrum	HP:0040281	ORPHA:1606
23013	SPEN	HP:0000343	Long philtrum	7/32	OMIM:619312
23013	SPEN	HP:0000347	Micrognathia	4/32	OMIM:619312
23013	SPEN	HP:0000316	Hypertelorism	4/32	OMIM:619312
23013	SPEN	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1606
23013	SPEN	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:1606
23013	SPEN	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000322	Short philtrum	2/32	OMIM:619312
23013	SPEN	HP:0001629	Ventricular septal defect	3/32	OMIM:619312
23013	SPEN	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000307	Pointed chin	4/32	OMIM:619312
23013	SPEN	HP:0000307	Pointed chin	HP:0040281	ORPHA:1606
23013	SPEN	HP:0000300	Oval face	2/32	OMIM:619312
23013	SPEN	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:1606
23013	SPEN	HP:0001734	Annular pancreas	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000405	Conductive hearing impairment	2/32	OMIM:619312
23013	SPEN	HP:0005274	Prominent nasal tip	4/32	OMIM:619312
23013	SPEN	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1606
23013	SPEN	HP:0005280	Depressed nasal bridge	3/32	OMIM:619312
23013	SPEN	HP:0000486	Strabismus	HP:0040282	ORPHA:1606
23013	SPEN	HP:0012471	Thick vermilion border	2/32	OMIM:619312
23013	SPEN	HP:0000494	Downslanted palpebral fissures	3/32	OMIM:619312
23013	SPEN	HP:0000490	Deeply set eye	HP:0040281	ORPHA:1606
23013	SPEN	HP:0000490	Deeply set eye	3/32	OMIM:619312
23013	SPEN	HP:0001792	Small nail	3/32	OMIM:619312
23013	SPEN	HP:0000464	Abnormality of the neck	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000463	Anteverted nares	4/32	OMIM:619312
23013	SPEN	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:1606
23013	SPEN	HP:0001773	Short foot	HP:0040281	ORPHA:1606
23013	SPEN	HP:0001763	Pes planus	2/32	OMIM:619312
23013	SPEN	HP:0000414	Bulbous nose	8/32	OMIM:619312
23013	SPEN	HP:0001743	Abnormality of the spleen	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1606
23013	SPEN	HP:0000431	Wide nasal bridge	2/32	OMIM:619312
23013	SPEN	HP:0001761	Pes cavus	3/32	OMIM:619312
23013	SPEN	HP:0000426	Prominent nasal bridge	2/32	OMIM:619312
23013	SPEN	HP:0000518	Cataract	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000527	Long eyelashes	4/32	OMIM:619312
23013	SPEN	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000505	Visual impairment	HP:0040283	ORPHA:1606
23013	SPEN	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1606
23013	SPEN	HP:0000582	Upslanted palpebral fissure	2/32	OMIM:619312
23013	SPEN	HP:0011228	Horizontal eyebrow	HP:0040281	ORPHA:1606
23013	SPEN	HP:0000574	Thick eyebrow	4/32	OMIM:619312
23013	SPEN	HP:0000534	Abnormal eyebrow morphology	HP:0040282	ORPHA:1606
23019	CNOT1	HP:0001182	Tapered finger	3/35	OMIM:619033
23019	CNOT1	HP:0010938	Abnormal external nose morphology	HP:0040283	ORPHA:556955
23019	CNOT1	HP:0008551	Microtia	-	OMIM:618500
23019	CNOT1	HP:0001290	Generalized hypotonia	-	OMIM:618500
23019	CNOT1	HP:0001290	Generalized hypotonia	26/35	OMIM:619033
23019	CNOT1	HP:0100801	Pancreatic aplasia	HP:0040282	ORPHA:556955
23019	CNOT1	HP:0100801	Pancreatic aplasia	3/3	OMIM:618500
23019	CNOT1	HP:0001274	Agenesis of corpus callosum	2/3	OMIM:618500
23019	CNOT1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:556955
23019	CNOT1	HP:0001270	Motor delay	29/35	OMIM:619033
23019	CNOT1	HP:0001250	Seizure	9/36	OMIM:619033
23019	CNOT1	HP:0001250	Seizure	0/3	OMIM:618500
23019	CNOT1	HP:0001249	Intellectual disability	23/32	OMIM:619033
23019	CNOT1	HP:0001260	Dysarthria	10/29	OMIM:619033
23019	CNOT1	HP:0001263	Global developmental delay	34/37	OMIM:619033
23019	CNOT1	HP:0001263	Global developmental delay	-	OMIM:618500
23019	CNOT1	HP:0001257	Spasticity	HP:0040284	OMIM:618500
23019	CNOT1	HP:0001234	Hitchhiker thumb	1/3	OMIM:618500
23019	CNOT1	HP:0410289	Hypoamylasemia	HP:0040282	ORPHA:556955
23019	CNOT1	HP:0002507	Semilobar holoprosencephaly	HP:0040283	ORPHA:556955
23019	CNOT1	HP:0002507	Semilobar holoprosencephaly	1/3	OMIM:618500
23019	CNOT1	HP:0003811	Neonatal death	1/3	OMIM:618500
23019	CNOT1	HP:0000098	Tall stature	2/33	OMIM:619033
23019	CNOT1	HP:0001360	Holoprosencephaly	4/31	OMIM:619033
23019	CNOT1	HP:0001360	Holoprosencephaly	HP:0040282	ORPHA:556955
23019	CNOT1	HP:0001331	Absent septum pellucidum	1/3	OMIM:618500
23019	CNOT1	HP:0001324	Muscle weakness	1/3	OMIM:618500
23019	CNOT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619033
23019	CNOT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618500
23019	CNOT1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:556955
23019	CNOT1	HP:0031209	Decreased circulating lipoprotein lipase concentration	HP:0040282	ORPHA:556955
23019	CNOT1	HP:0002079	Hypoplasia of the corpus callosum	1/3	OMIM:618500
23019	CNOT1	HP:0030948	Elevated gamma-glutamyltransferase level	1/3	OMIM:618500
23019	CNOT1	HP:0003577	Congenital onset	2/3	OMIM:618500
23019	CNOT1	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040283	ORPHA:556955
23019	CNOT1	HP:0010669	Hypoplasia of the zygomatic bone	1/3	OMIM:618500
23019	CNOT1	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	HP:0040283	ORPHA:556955
23019	CNOT1	HP:0002384	Focal impaired awareness seizure	1/3	OMIM:618500
23019	CNOT1	HP:0002360	Sleep abnormality	10/31	OMIM:619033
23019	CNOT1	HP:0100651	Type I diabetes mellitus	3/3	OMIM:618500
23019	CNOT1	HP:0003623	Neonatal onset	1/3	OMIM:618500
23019	CNOT1	HP:0006870	Lobar holoprosencephaly	1/3	OMIM:618500
23019	CNOT1	HP:0000601	Hypotelorism	-	OMIM:618500
23019	CNOT1	HP:0000601	Hypotelorism	HP:0040283	ORPHA:556955
23019	CNOT1	HP:0001999	Abnormal facial shape	-	OMIM:619033
23019	CNOT1	HP:0004325	Decreased body weight	6/31	OMIM:619033
23019	CNOT1	HP:0004322	Short stature	18/33	OMIM:619033
23019	CNOT1	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/3	OMIM:618500
23019	CNOT1	HP:0000750	Delayed speech and language development	29/35	OMIM:619033
23019	CNOT1	HP:0011467	Absent gallbladder	HP:0040282	ORPHA:556955
23019	CNOT1	HP:0011467	Absent gallbladder	2/3	OMIM:618500
23019	CNOT1	HP:0030795	Reduced C-peptide level	HP:0040282	ORPHA:556955
23019	CNOT1	HP:0000873	Diabetes insipidus	HP:0040284	OMIM:618500
23019	CNOT1	HP:0000857	Neonatal insulin-dependent diabetes mellitus	HP:0040282	ORPHA:556955
23019	CNOT1	HP:0040195	Decreased head circumference	7/34	OMIM:619033
23019	CNOT1	HP:0000286	Epicanthus	-	OMIM:618500
23019	CNOT1	HP:0000269	Prominent occiput	1/3	OMIM:618500
23019	CNOT1	HP:0000269	Prominent occiput	HP:0040283	ORPHA:556955
23019	CNOT1	HP:0000252	Microcephaly	-	OMIM:618500
23019	CNOT1	HP:0000218	High palate	1/3	OMIM:618500
23019	CNOT1	HP:0000218	High palate	HP:0040283	ORPHA:556955
23019	CNOT1	HP:0001518	Small for gestational age	2/3	OMIM:618500
23019	CNOT1	HP:0001518	Small for gestational age	HP:0040282	ORPHA:556955
23019	CNOT1	HP:0001511	Intrauterine growth retardation	2/3	OMIM:618500
23019	CNOT1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:556955
23019	CNOT1	HP:0001511	Intrauterine growth retardation	8/35	OMIM:619033
23019	CNOT1	HP:0001510	Growth delay	1/3	OMIM:618500
23019	CNOT1	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:556955
23019	CNOT1	HP:0000369	Low-set ears	2/3	OMIM:618500
23019	CNOT1	HP:0000369	Low-set ears	HP:0040283	ORPHA:556955
23019	CNOT1	HP:0000340	Sloping forehead	1/3	OMIM:618500
23019	CNOT1	HP:0000340	Sloping forehead	HP:0040283	ORPHA:556955
23019	CNOT1	HP:0000343	Long philtrum	-	OMIM:618500
23019	CNOT1	HP:0001622	Premature birth	6/38	OMIM:619033
23019	CNOT1	HP:0001738	Exocrine pancreatic insufficiency	2/3	OMIM:618500
23019	CNOT1	HP:0000407	Sensorineural hearing impairment	-	OMIM:618500
23019	CNOT1	HP:0000405	Conductive hearing impairment	-	OMIM:618500
23019	CNOT1	HP:0005280	Depressed nasal bridge	-	OMIM:618500
23019	CNOT1	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:556955
23019	CNOT1	HP:0012418	Hypoxemia	HP:0040283	ORPHA:556955
23020	SNRNP200	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
23020	SNRNP200	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
23020	SNRNP200	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
23020	SNRNP200	HP:0000006	Autosomal dominant inheritance	-	OMIM:610359
23020	SNRNP200	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
23020	SNRNP200	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
23020	SNRNP200	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
23020	SNRNP200	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
23020	SNRNP200	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
23020	SNRNP200	HP:0003621	Juvenile onset	8/19	OMIM:180100
23020	SNRNP200	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
23020	SNRNP200	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
23020	SNRNP200	HP:0000618	Blindness	HP:0040281	ORPHA:791
23020	SNRNP200	HP:0000613	Photophobia	HP:0040281	ORPHA:791
23020	SNRNP200	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
23020	SNRNP200	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
23020	SNRNP200	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
23020	SNRNP200	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
23020	SNRNP200	HP:0000662	Nyctalopia	-	OMIM:610359
23020	SNRNP200	HP:0000662	Nyctalopia	26/28	OMIM:180100
23020	SNRNP200	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
23020	SNRNP200	HP:0011463	Childhood onset	3/19	OMIM:180100
23020	SNRNP200	HP:0011462	Young adult onset	8/19	OMIM:180100
23020	SNRNP200	HP:0030786	Photopsia	HP:0040283	ORPHA:791
23020	SNRNP200	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
23020	SNRNP200	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
23020	SNRNP200	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
23020	SNRNP200	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:610359
23020	SNRNP200	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
23020	SNRNP200	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
23020	SNRNP200	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
23020	SNRNP200	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
23020	SNRNP200	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:610359
23020	SNRNP200	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
23020	SNRNP200	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:610359
23020	SNRNP200	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
23020	SNRNP200	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
23020	SNRNP200	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
23020	SNRNP200	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
23020	SNRNP200	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
23020	SNRNP200	HP:0000510	Rod-cone dystrophy	-	OMIM:610359
23020	SNRNP200	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
23020	SNRNP200	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
23020	SNRNP200	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
23020	SNRNP200	HP:0000505	Visual impairment	-	OMIM:610359
23020	SNRNP200	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
23020	SNRNP200	HP:0000575	Scotoma	5/18	OMIM:180100
23020	SNRNP200	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
23020	SNRNP200	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
23020	SNRNP200	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
23020	SNRNP200	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
23020	SNRNP200	HP:0000543	Optic disc pallor	-	OMIM:610359
23020	SNRNP200	HP:0000543	Optic disc pallor	1/1	OMIM:180100
23020	SNRNP200	HP:0000545	Myopia	-	OMIM:180100
23022	PALLD	HP:0025318	Ovarian carcinoma	HP:0040283	ORPHA:1333
23022	PALLD	HP:0000006	Autosomal dominant inheritance	-	OMIM:606856
23022	PALLD	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:1333
23022	PALLD	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:1333
23022	PALLD	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:1333
23022	PALLD	HP:0002027	Abdominal pain	HP:0040281	ORPHA:1333
23022	PALLD	HP:0002039	Anorexia	HP:0040281	ORPHA:1333
23022	PALLD	HP:0100592	Peritoneal abscess	HP:0040283	ORPHA:1333
23022	PALLD	HP:0003418	Back pain	HP:0040281	ORPHA:1333
23022	PALLD	HP:0002254	Intermittent diarrhea	HP:0040283	ORPHA:1333
23022	PALLD	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:1333
23022	PALLD	HP:0003003	Colon cancer	HP:0040283	ORPHA:1333
23022	PALLD	HP:0004389	Intestinal pseudo-obstruction	HP:0040282	ORPHA:1333
23022	PALLD	HP:0004396	Poor appetite	HP:0040281	ORPHA:1333
23022	PALLD	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1333
23022	PALLD	HP:0000952	Jaundice	HP:0040282	ORPHA:1333
23022	PALLD	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:1333
23022	PALLD	HP:0002861	Melanoma	HP:0040283	ORPHA:1333
23022	PALLD	HP:0005249	Functional intestinal obstruction	HP:0040282	ORPHA:1333
23022	PALLD	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:1333
23022	PALLD	HP:0012334	Extrahepatic cholestasis	HP:0040282	ORPHA:1333
23022	PALLD	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:1333
23022	PALLD	HP:0012432	Chronic fatigue	HP:0040281	ORPHA:1333
23022	PALLD	HP:0006725	Pancreatic adenocarcinoma	-	OMIM:606856
23022	PALLD	HP:0006725	Pancreatic adenocarcinoma	HP:0040280	ORPHA:1333
23022	PALLD	HP:0001824	Weight loss	HP:0040281	ORPHA:1333
23025	UNC13A	HP:0002463	Language impairment	HP:0040283	ORPHA:803
23025	UNC13A	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
23025	UNC13A	HP:0001257	Spasticity	HP:0040282	ORPHA:803
23025	UNC13A	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
23025	UNC13A	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
23025	UNC13A	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
23025	UNC13A	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
23025	UNC13A	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
23025	UNC13A	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
23025	UNC13A	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
23025	UNC13A	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
23025	UNC13A	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
23025	UNC13A	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
23025	UNC13A	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
23025	UNC13A	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
23025	UNC13A	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
23025	UNC13A	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
23025	UNC13A	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
23025	UNC13A	HP:0003470	Paralysis	HP:0040282	ORPHA:803
23025	UNC13A	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
23025	UNC13A	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
23025	UNC13A	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
23025	UNC13A	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
23025	UNC13A	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
23025	UNC13A	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
23025	UNC13A	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
23025	UNC13A	HP:0002307	Drooling	HP:0040282	ORPHA:803
23025	UNC13A	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
23025	UNC13A	HP:0004326	Cachexia	HP:0040283	ORPHA:803
23025	UNC13A	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
23025	UNC13A	HP:0000739	Anxiety	HP:0040282	ORPHA:803
23025	UNC13A	HP:0000716	Depression	HP:0040282	ORPHA:803
23025	UNC13A	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
23025	UNC13A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
23025	UNC13A	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
23025	UNC13A	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
23025	UNC13A	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
23025	UNC13A	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
23025	UNC13A	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
23025	UNC13A	HP:0012378	Fatigue	HP:0040282	ORPHA:803
23025	UNC13A	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
23025	UNC13A	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
23025	UNC13A	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
23025	UNC13A	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
23025	UNC13A	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
23025	UNC13A	HP:0001824	Weight loss	HP:0040282	ORPHA:803
23025	UNC13A	HP:0012531	Pain	HP:0040282	ORPHA:803
23028	KDM1A	HP:0001182	Tapered finger	-	OMIM:616728
23028	KDM1A	HP:0001182	Tapered finger	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0001156	Brachydactyly	HP:0040282	ORPHA:477993
23028	KDM1A	HP:0009890	High anterior hairline	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0001290	Generalized hypotonia	-	OMIM:616728
23028	KDM1A	HP:0001270	Motor delay	-	OMIM:616728
23028	KDM1A	HP:0001252	Hypotonia	HP:0040282	ORPHA:477993
23028	KDM1A	HP:0001263	Global developmental delay	3/3	OMIM:616728
23028	KDM1A	HP:0001263	Global developmental delay	HP:0040282	ORPHA:477993
23028	KDM1A	HP:0002558	Supernumerary nipple	HP:0040283	OMIM:616728
23028	KDM1A	HP:0002558	Supernumerary nipple	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0031077	Abnormal response to corticotropin releasing hormone stimulation test	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0002553	Highly arched eyebrow	-	OMIM:616728
23028	KDM1A	HP:0025383	Dorsocervical fat pad	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:189427
23028	KDM1A	HP:0000041	Chordee	1/3	OMIM:616728
23028	KDM1A	HP:0000041	Chordee	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0012030	Increased urinary cortisol level	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0001382	Joint hypermobility	2/3	OMIM:616728
23028	KDM1A	HP:0000047	Hypospadias	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0000028	Cryptorchidism	1/3	OMIM:616728
23028	KDM1A	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0012081	Enlarged cerebellum	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:189427
23028	KDM1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:616728
23028	KDM1A	HP:0001488	Bilateral ptosis	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0000174	Abnormal palate morphology	HP:0040282	ORPHA:477993
23028	KDM1A	HP:0500011	Moon facies	HP:0040281	ORPHA:189427
23028	KDM1A	HP:0002714	Downturned corners of mouth	2/3	OMIM:616728
23028	KDM1A	HP:0002019	Constipation	3/3	OMIM:616728
23028	KDM1A	HP:0002007	Frontal bossing	-	OMIM:616728
23028	KDM1A	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:189427
23028	KDM1A	HP:0003396	Syringomyelia	1/1	OMIM:616728
23028	KDM1A	HP:0002079	Hypoplasia of the corpus callosum	2/3	OMIM:616728
23028	KDM1A	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0002144	Tethered cord	2/2	OMIM:616728
23028	KDM1A	HP:0003468	Abnormal vertebral morphology	-	OMIM:616728
23028	KDM1A	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0002188	Delayed CNS myelination	2/3	OMIM:616728
23028	KDM1A	HP:0002169	Clonus	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0008231	Macronodular adrenal hyperplasia	HP:0040280	ORPHA:189427
23028	KDM1A	HP:0008200	Primary hyperparathyroidism	HP:0040284	ORPHA:189427
23028	KDM1A	HP:0011832	Narrow nasal tip	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0100754	Mania	HP:0040283	ORPHA:189427
23028	KDM1A	HP:0011968	Feeding difficulties	1/2	OMIM:616728
23028	KDM1A	HP:0001050	Plethora	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0001065	Striae distensae	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0001061	Acne	HP:0040283	ORPHA:189427
23028	KDM1A	HP:0001007	Hirsutism	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0002354	Memory impairment	HP:0040283	ORPHA:189427
23028	KDM1A	HP:0100634	Neuroendocrine neoplasm	HP:0040284	ORPHA:189427
23028	KDM1A	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0009778	Short thumb	-	OMIM:616728
23028	KDM1A	HP:0009778	Short thumb	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0004209	Clinodactyly of the 5th finger	2/3	OMIM:616728
23028	KDM1A	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0031845	Abnormal libido	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0005584	Renal cell carcinoma	HP:0040284	ORPHA:189427
23028	KDM1A	HP:0006895	Lower limb hypertonia	-	OMIM:616728
23028	KDM1A	HP:0006895	Lower limb hypertonia	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0001952	Glucose intolerance	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0000687	Widely spaced teeth	3/3	OMIM:616728
23028	KDM1A	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:477993
23028	KDM1A	HP:0000657	Oculomotor apraxia	1/3	OMIM:616728
23028	KDM1A	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0000664	Synophrys	HP:0040283	OMIM:616728
23028	KDM1A	HP:0000664	Synophrys	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0004324	Increased body weight	HP:0040283	ORPHA:189427
23028	KDM1A	HP:0004322	Short stature	2/3	OMIM:616728
23028	KDM1A	HP:0003077	Hyperlipidemia	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:477993
23028	KDM1A	HP:0012743	Abdominal obesity	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0000750	Delayed speech and language development	3/3	OMIM:616728
23028	KDM1A	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:477993
23028	KDM1A	HP:0000716	Depression	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0000712	Emotional lability	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0000725	Psychotic episodes	HP:0040283	ORPHA:189427
23028	KDM1A	HP:0000787	Nephrolithiasis	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0003118	Increased circulating cortisol level	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0000859	Increased circulating aldosterone concentration	HP:0040284	ORPHA:189427
23028	KDM1A	HP:0000858	Irregular menstruation	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0000822	Hypertension	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0045075	Sparse eyebrow	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0000939	Osteoporosis	HP:0040282	ORPHA:189427
23028	KDM1A	HP:0001596	Alopecia	HP:0040283	ORPHA:189427
23028	KDM1A	HP:0000256	Macrocephaly	1/3	OMIM:616728
23028	KDM1A	HP:0000256	Macrocephaly	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0000248	Brachycephaly	2/3	OMIM:616728
23028	KDM1A	HP:0000219	Thin upper lip vermilion	3/3	OMIM:616728
23028	KDM1A	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:477993
23028	KDM1A	HP:0002893	Pituitary adenoma	HP:0040284	ORPHA:189427
23028	KDM1A	HP:0002858	Meningioma	HP:0040284	ORPHA:189427
23028	KDM1A	HP:0030048	Colpocephaly	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0011078	Abnormality of canine	HP:0040282	ORPHA:477993
23028	KDM1A	HP:0002920	Decreased circulating ACTH concentration	HP:0040281	ORPHA:189427
23028	KDM1A	HP:0000316	Hypertelorism	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0000486	Strabismus	2/3	OMIM:616728
23028	KDM1A	HP:0000486	Strabismus	HP:0040282	ORPHA:477993
23028	KDM1A	HP:0000494	Downslanted palpebral fissures	3/3	OMIM:616728
23028	KDM1A	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:477993
23028	KDM1A	HP:0000463	Anteverted nares	2/3	OMIM:616728
23028	KDM1A	HP:0000463	Anteverted nares	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0012448	Delayed myelination	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0012430	Cerebral white matter hypoplasia	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0012430	Cerebral white matter hypoplasia	2/3	OMIM:616728
23028	KDM1A	HP:0000431	Wide nasal bridge	3/3	OMIM:616728
23028	KDM1A	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:477993
23028	KDM1A	HP:0000508	Ptosis	1/3	OMIM:616728
23028	KDM1A	HP:0001800	Hypoplastic toenails	2/3	OMIM:616728
23028	KDM1A	HP:0001800	Hypoplastic toenails	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0000577	Exotropia	2/3	OMIM:616728
23028	KDM1A	HP:0000577	Exotropia	HP:0040282	ORPHA:477993
23028	KDM1A	HP:0000592	Blue sclerae	1/3	OMIM:616728
23028	KDM1A	HP:0000592	Blue sclerae	HP:0040283	ORPHA:477993
23028	KDM1A	HP:0011220	Prominent forehead	3/3	OMIM:616728
23028	KDM1A	HP:0011220	Prominent forehead	HP:0040282	ORPHA:477993
23030	KDM4B	HP:0025101	Dysgenesis of the hippocampus	2/3	OMIM:619320
23030	KDM4B	HP:0010953	Noncommunicating hydrocephalus	1/9	OMIM:619320
23030	KDM4B	HP:0010862	Delayed fine motor development	4/9	OMIM:619320
23030	KDM4B	HP:0001274	Agenesis of corpus callosum	2/3	OMIM:619320
23030	KDM4B	HP:0001250	Seizure	3/9	OMIM:619320
23030	KDM4B	HP:0001252	Hypotonia	2/3	OMIM:619320
23030	KDM4B	HP:0001251	Ataxia	1/9	OMIM:619320
23030	KDM4B	HP:0001249	Intellectual disability	9/9	OMIM:619320
23030	KDM4B	HP:0001263	Global developmental delay	8/9	OMIM:619320
23030	KDM4B	HP:0000006	Autosomal dominant inheritance	-	OMIM:619320
23030	KDM4B	HP:0002714	Downturned corners of mouth	2/9	OMIM:619320
23030	KDM4B	HP:0002194	Delayed gross motor development	6/9	OMIM:619320
23030	KDM4B	HP:0002162	Low posterior hairline	1/9	OMIM:619320
23030	KDM4B	HP:0003593	Infantile onset	-	OMIM:619320
23030	KDM4B	HP:0007018	Attention deficit hyperactivity disorder	2/5	OMIM:619320
23030	KDM4B	HP:0010804	Tented upper lip vermilion	2/9	OMIM:619320
23030	KDM4B	HP:0002312	Clumsiness	1/9	OMIM:619320
23030	KDM4B	HP:0004209	Clinodactyly of the 5th finger	3/9	OMIM:619320
23030	KDM4B	HP:0004279	Short palm	1/9	OMIM:619320
23030	KDM4B	HP:0000664	Synophrys	2/9	OMIM:619320
23030	KDM4B	HP:0000750	Delayed speech and language development	8/9	OMIM:619320
23030	KDM4B	HP:0000718	Aggressive behavior	2/5	OMIM:619320
23030	KDM4B	HP:0000729	Autistic behavior	1/5	OMIM:619320
23030	KDM4B	HP:0000722	Compulsive behaviors	1/5	OMIM:619320
23030	KDM4B	HP:0045074	Thin eyebrow	1/9	OMIM:619320
23030	KDM4B	HP:0000954	Single transverse palmar crease	1/9	OMIM:619320
23030	KDM4B	HP:0045025	Narrow palpebral fissure	1/9	OMIM:619320
23030	KDM4B	HP:0008070	Sparse hair	2/9	OMIM:619320
23030	KDM4B	HP:0000297	Facial hypotonia	1/3	OMIM:619320
23030	KDM4B	HP:0000262	Turricephaly	1/9	OMIM:619320
23030	KDM4B	HP:0000215	Thick upper lip vermilion	1/9	OMIM:619320
23030	KDM4B	HP:0000358	Posteriorly rotated ears	1/9	OMIM:619320
23030	KDM4B	HP:0000369	Low-set ears	1/9	OMIM:619320
23030	KDM4B	HP:0000341	Narrow forehead	1/9	OMIM:619320
23030	KDM4B	HP:0000343	Long philtrum	1/9	OMIM:619320
23030	KDM4B	HP:0000347	Micrognathia	1/9	OMIM:619320
23030	KDM4B	HP:0000311	Round face	1/9	OMIM:619320
23030	KDM4B	HP:0000322	Short philtrum	3/9	OMIM:619320
23030	KDM4B	HP:0000324	Facial asymmetry	1/9	OMIM:619320
23030	KDM4B	HP:0000400	Macrotia	2/9	OMIM:619320
23030	KDM4B	HP:0012469	Infantile spasms	1/9	OMIM:619320
23030	KDM4B	HP:0000463	Anteverted nares	3/18	OMIM:619320
23030	KDM4B	HP:0001773	Short foot	1/9	OMIM:619320
23030	KDM4B	HP:0000414	Bulbous nose	1/9	OMIM:619320
23030	KDM4B	HP:0000431	Wide nasal bridge	2/9	OMIM:619320
23030	KDM4B	HP:0005487	Prominent metopic ridge	2/9	OMIM:619320
23030	KDM4B	HP:0000582	Upslanted palpebral fissure	1/9	OMIM:619320
23031	MAST3	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	6/11	OMIM:620115
23031	MAST3	HP:0001249	Intellectual disability	11/11	OMIM:620115
23031	MAST3	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/11	OMIM:620115
23031	MAST3	HP:0033725	Thin corpus callosum	3/5	OMIM:620115
23031	MAST3	HP:0000006	Autosomal dominant inheritance	-	OMIM:620115
23031	MAST3	HP:0002121	Generalized non-motor (absence) seizure	7/11	OMIM:620115
23031	MAST3	HP:0003593	Infantile onset	7/11	OMIM:620115
23031	MAST3	HP:0200134	Epileptic encephalopathy	11/11	OMIM:620115
23031	MAST3	HP:0002384	Focal impaired awareness seizure	5/11	OMIM:620115
23031	MAST3	HP:0010819	Atonic seizure	5/11	OMIM:620115
23031	MAST3	HP:0011463	Childhood onset	4/11	OMIM:620115
23031	MAST3	HP:0032660	Convulsive status epilepticus	2/11	OMIM:620115
23031	MAST3	HP:0032663	Focal motor status epilepticus	1/11	OMIM:620115
23031	MAST3	HP:0032792	Tonic seizure	6/11	OMIM:620115
23031	MAST3	HP:0032794	Myoclonic seizure	5/11	OMIM:620115
23031	MAST3	HP:0012506	Small pituitary gland	4/5	OMIM:620115
23036	ZNF292	HP:0001276	Hypertonia	3/27	OMIM:619188
23036	ZNF292	HP:0001250	Seizure	3/26	OMIM:619188
23036	ZNF292	HP:0001252	Hypotonia	10/27	OMIM:619188
23036	ZNF292	HP:0001249	Intellectual disability	-	OMIM:619188
23036	ZNF292	HP:0001263	Global developmental delay	27/28	OMIM:619188
23036	ZNF292	HP:0032388	Periventricular nodular heterotopia	1/12	OMIM:619188
23036	ZNF292	HP:0001212	Prominent fingertip pads	1/15	OMIM:619188
23036	ZNF292	HP:0001357	Plagiocephaly	1/15	OMIM:619188
23036	ZNF292	HP:0000006	Autosomal dominant inheritance	-	OMIM:619188
23036	ZNF292	HP:0001321	Cerebellar hypoplasia	1/12	OMIM:619188
23036	ZNF292	HP:0002119	Ventriculomegaly	1/12	OMIM:619188
23036	ZNF292	HP:0007018	Attention deficit hyperactivity disorder	9/27	OMIM:619188
23036	ZNF292	HP:0011968	Feeding difficulties	8/26	OMIM:619188
23036	ZNF292	HP:0004209	Clinodactyly of the 5th finger	1/15	OMIM:619188
23036	ZNF292	HP:0000639	Nystagmus	2/15	OMIM:619188
23036	ZNF292	HP:0000664	Synophrys	1/15	OMIM:619188
23036	ZNF292	HP:0000750	Delayed speech and language development	26/27	OMIM:619188
23036	ZNF292	HP:0000729	Autistic behavior	17/27	OMIM:619188
23036	ZNF292	HP:0000954	Single transverse palmar crease	2/15	OMIM:619188
23036	ZNF292	HP:0000286	Epicanthus	1/15	OMIM:619188
23036	ZNF292	HP:0000252	Microcephaly	4/28	OMIM:619188
23036	ZNF292	HP:0000219	Thin upper lip vermilion	3/15	OMIM:619188
23036	ZNF292	HP:0000218	High palate	1/15	OMIM:619188
23036	ZNF292	HP:0001510	Growth delay	11/27	OMIM:619188
23036	ZNF292	HP:0000378	Cupped ear	1/15	OMIM:619188
23036	ZNF292	HP:0000369	Low-set ears	2/15	OMIM:619188
23036	ZNF292	HP:0000347	Micrognathia	13/28	OMIM:619188
23036	ZNF292	HP:0000319	Smooth philtrum	1/15	OMIM:619188
23036	ZNF292	HP:0000316	Hypertelorism	14/43	OMIM:619188
23036	ZNF292	HP:0000331	Short chin	1/15	OMIM:619188
23036	ZNF292	HP:0000322	Short philtrum	3/15	OMIM:619188
23036	ZNF292	HP:0000307	Pointed chin	1/15	OMIM:619188
23036	ZNF292	HP:0005280	Depressed nasal bridge	1/15	OMIM:619188
23036	ZNF292	HP:0000486	Strabismus	3/15	OMIM:619188
23036	ZNF292	HP:0000463	Anteverted nares	1/15	OMIM:619188
23036	ZNF292	HP:0012450	Chronic constipation	6/26	OMIM:619188
23036	ZNF292	HP:0000414	Bulbous nose	4/30	OMIM:619188
23036	ZNF292	HP:0005487	Prominent metopic ridge	1/15	OMIM:619188
23036	ZNF292	HP:0000582	Upslanted palpebral fissure	1/15	OMIM:619188
23036	ZNF292	HP:0011220	Prominent forehead	1/15	OMIM:619188
23040	MYT1L	HP:0010952	Mild fetal ventriculomegaly	HP:0040284	ORPHA:647799
23040	MYT1L	HP:0025160	Abnormal temper tantrums	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0010862	Delayed fine motor development	HP:0040281	ORPHA:647799
23040	MYT1L	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0003763	Bruxism	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0001270	Motor delay	HP:0040282	ORPHA:647799
23040	MYT1L	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0001250	Seizure	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0001249	Intellectual disability	2/2	OMIM:616521
23040	MYT1L	HP:0001249	Intellectual disability	HP:0040281	ORPHA:647799
23040	MYT1L	HP:0002591	Polyphagia	6/10	OMIM:616521
23040	MYT1L	HP:0002591	Polyphagia	HP:0040282	ORPHA:647799
23040	MYT1L	HP:0001263	Global developmental delay	11/11	OMIM:616521
23040	MYT1L	HP:0001263	Global developmental delay	HP:0040281	ORPHA:647799
23040	MYT1L	HP:0034977	Abnormal pituitary stalk morphology	HP:0040284	ORPHA:647799
23040	MYT1L	HP:0000054	Micropenis	HP:0040284	ORPHA:647799
23040	MYT1L	HP:0032508	Polyembolokoilamania	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0033725	Thin corpus callosum	1/9	OMIM:616521
23040	MYT1L	HP:0001328	Specific learning disability	HP:0040282	ORPHA:647799
23040	MYT1L	HP:0000006	Autosomal dominant inheritance	-	OMIM:616521
23040	MYT1L	HP:0001319	Neonatal hypotonia	1/1	OMIM:616521
23040	MYT1L	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0000135	Hypogonadism	HP:0040284	ORPHA:647799
23040	MYT1L	HP:0000154	Wide mouth	1/1	OMIM:616521
23040	MYT1L	HP:0008947	Floppy infant	HP:0040282	ORPHA:647799
23040	MYT1L	HP:0000107	Renal cyst	HP:0040284	ORPHA:647799
23040	MYT1L	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0005988	Congenital muscular torticollis	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0002098	Respiratory distress	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0002059	Cerebral atrophy	1/9	OMIM:616521
23040	MYT1L	HP:0002121	Generalized non-motor (absence) seizure	1/9	OMIM:616521
23040	MYT1L	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0002194	Delayed gross motor development	9/9	OMIM:616521
23040	MYT1L	HP:0010535	Sleep apnea	HP:0040284	ORPHA:647799
23040	MYT1L	HP:0002263	Exaggerated cupid's bow	HP:0040282	ORPHA:647799
23040	MYT1L	HP:0003593	Infantile onset	-	OMIM:616521
23040	MYT1L	HP:0100710	Impulsivity	HP:0040282	ORPHA:647799
23040	MYT1L	HP:6000352	Tachyphagia	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0100738	Abnormal eating behavior	HP:0040282	ORPHA:647799
23040	MYT1L	HP:0007018	Attention deficit hyperactivity disorder	1/1	OMIM:616521
23040	MYT1L	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:647799
23040	MYT1L	HP:0002384	Focal impaired awareness seizure	1/9	OMIM:616521
23040	MYT1L	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:647799
23040	MYT1L	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:647799
23040	MYT1L	HP:0002353	EEG abnormality	0/1	OMIM:616521
23040	MYT1L	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0000639	Nystagmus	HP:0040284	ORPHA:647799
23040	MYT1L	HP:0000657	Oculomotor apraxia	HP:0040284	ORPHA:647799
23040	MYT1L	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0004322	Short stature	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0003077	Hyperlipidemia	HP:0040284	ORPHA:647799
23040	MYT1L	HP:0031936	Delayed ability to walk	1/1	OMIM:616521
23040	MYT1L	HP:0000739	Anxiety	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:647799
23040	MYT1L	HP:0000750	Delayed speech and language development	11/11	OMIM:616521
23040	MYT1L	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:647799
23040	MYT1L	HP:0000742	Self-mutilation	1/9	OMIM:616521
23040	MYT1L	HP:0000718	Aggressive behavior	10/12	OMIM:616521
23040	MYT1L	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:647799
23040	MYT1L	HP:0000729	Autistic behavior	HP:0040281	ORPHA:647799
23040	MYT1L	HP:0000729	Autistic behavior	3/9	OMIM:616521
23040	MYT1L	HP:0011463	Childhood onset	1/1	OMIM:616521
23040	MYT1L	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:647799
23040	MYT1L	HP:0000776	Congenital diaphragmatic hernia	HP:0040284	ORPHA:647799
23040	MYT1L	HP:0003118	Increased circulating cortisol level	0/1	OMIM:616521
23040	MYT1L	HP:0000872	Hashimoto thyroiditis	HP:0040284	ORPHA:647799
23040	MYT1L	HP:0012810	Wide nasal base	1/1	OMIM:616521
23040	MYT1L	HP:0000817	Reduced eye contact	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0000821	Hypothyroidism	0/1	OMIM:616521
23040	MYT1L	HP:0008071	Maternal hypertension	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0000293	Full cheeks	HP:0040282	ORPHA:647799
23040	MYT1L	HP:0000256	Macrocephaly	HP:0040284	ORPHA:647799
23040	MYT1L	HP:0000238	Hydrocephalus	1/9	OMIM:616521
23040	MYT1L	HP:0000252	Microcephaly	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0025502	Overweight	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0001508	Failure to thrive	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0001513	Obesity	7/12	OMIM:616521
23040	MYT1L	HP:0001513	Obesity	HP:0040282	ORPHA:647799
23040	MYT1L	HP:0012378	Fatigue	HP:0040282	ORPHA:647799
23040	MYT1L	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:647799
23040	MYT1L	HP:0011015	Abnormal blood glucose concentration	0/1	OMIM:616521
23040	MYT1L	HP:0001622	Premature birth	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0000483	Astigmatism	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0000486	Strabismus	1/1	OMIM:616521
23040	MYT1L	HP:0000486	Strabismus	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0000490	Deeply set eye	HP:0040282	ORPHA:647799
23040	MYT1L	HP:0001776	Bilateral talipes equinovarus	1/9	OMIM:616521
23040	MYT1L	HP:0000414	Bulbous nose	HP:0040282	ORPHA:647799
23040	MYT1L	HP:0000431	Wide nasal bridge	1/1	OMIM:616521
23040	MYT1L	HP:0000540	Hypermetropia	HP:0040283	ORPHA:647799
23040	MYT1L	HP:0000545	Myopia	HP:0040284	ORPHA:647799
23043	TNIK	HP:0001249	Intellectual disability	4/4	OMIM:617028
23043	TNIK	HP:0000007	Autosomal recessive inheritance	-	OMIM:617028
23043	TNIK	HP:0002267	Exaggerated startle response	1/4	OMIM:617028
23043	TNIK	HP:0003593	Infantile onset	4/4	OMIM:617028
23043	TNIK	HP:0007018	Attention deficit hyperactivity disorder	1/4	OMIM:617028
23043	TNIK	HP:0000750	Delayed speech and language development	-	OMIM:617028
23043	TNIK	HP:0000712	Emotional lability	1/4	OMIM:617028
23059	CLUAP1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
23059	CLUAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
23059	CLUAP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
23059	CLUAP1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
23059	CLUAP1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
23059	CLUAP1	HP:0003621	Juvenile onset	8/19	OMIM:180100
23059	CLUAP1	HP:0000662	Nyctalopia	26/28	OMIM:180100
23059	CLUAP1	HP:0011463	Childhood onset	3/19	OMIM:180100
23059	CLUAP1	HP:0011462	Young adult onset	8/19	OMIM:180100
23059	CLUAP1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
23059	CLUAP1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
23059	CLUAP1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
23059	CLUAP1	HP:0000575	Scotoma	5/18	OMIM:180100
23059	CLUAP1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
23059	CLUAP1	HP:0000545	Myopia	-	OMIM:180100
23064	SETX	HP:0001152	Saccadic smooth pursuit	HP:0040282	ORPHA:64753
23064	SETX	HP:0001152	Saccadic smooth pursuit	-	OMIM:606002
23064	SETX	HP:0002460	Distal muscle weakness	10/10	OMIM:606002
23064	SETX	HP:0002460	Distal muscle weakness	-	OMIM:602433
23064	SETX	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:357043
23064	SETX	HP:0007267	Chronic axonal neuropathy	-	OMIM:606002
23064	SETX	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:64753
23064	SETX	HP:0007256	Abnormal pyramidal sign	-	OMIM:606002
23064	SETX	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:357043
23064	SETX	HP:0007240	Progressive gait ataxia	-	OMIM:606002
23064	SETX	HP:0001272	Cerebellar atrophy	39/39	OMIM:606002
23064	SETX	HP:0001271	Polyneuropathy	-	OMIM:606002
23064	SETX	HP:0001288	Gait disturbance	-	OMIM:602433
23064	SETX	HP:0001288	Gait disturbance	HP:0040283	ORPHA:357043
23064	SETX	HP:0001284	Areflexia	HP:0040281	ORPHA:64753
23064	SETX	HP:0001284	Areflexia	41/47	OMIM:606002
23064	SETX	HP:0001251	Ataxia	HP:0040281	ORPHA:64753
23064	SETX	HP:0001265	Hyporeflexia	4/18	OMIM:606002
23064	SETX	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:64753
23064	SETX	HP:0001260	Dysarthria	10/10	OMIM:606002
23064	SETX	HP:0001258	Spastic paraplegia	HP:0040283	ORPHA:357043
23064	SETX	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:602433
23064	SETX	HP:0003828	Variable expressivity	-	OMIM:606002
23064	SETX	HP:0001347	Hyperreflexia	-	OMIM:602433
23064	SETX	HP:0001332	Dystonia	HP:0040283	ORPHA:64753
23064	SETX	HP:0001332	Dystonia	5/18	OMIM:606002
23064	SETX	HP:0000007	Autosomal recessive inheritance	-	OMIM:606002
23064	SETX	HP:0001337	Tremor	57%	OMIM:606002
23064	SETX	HP:0000006	Autosomal dominant inheritance	-	OMIM:602433
23064	SETX	HP:0002650	Scoliosis	7/18	OMIM:606002
23064	SETX	HP:0001315	Reduced tendon reflexes	18/18	OMIM:606002
23064	SETX	HP:0006254	Elevated circulating alpha-fetoprotein concentration	HP:0040282	ORPHA:64753
23064	SETX	HP:0006254	Elevated circulating alpha-fetoprotein concentration	43/43	OMIM:606002
23064	SETX	HP:0002015	Dysphagia	HP:0040283	ORPHA:64753
23064	SETX	HP:0002015	Dysphagia	10/10	OMIM:606002
23064	SETX	HP:0002066	Gait ataxia	23/28	OMIM:606002
23064	SETX	HP:0002072	Chorea	4/18	OMIM:606002
23064	SETX	HP:0002070	Limb ataxia	-	OMIM:606002
23064	SETX	HP:0003477	Peripheral axonal neuropathy	8/8	OMIM:606002
23064	SETX	HP:0003474	Somatic sensory dysfunction	HP:0040282	ORPHA:64753
23064	SETX	HP:0003474	Somatic sensory dysfunction	HP:0040283	ORPHA:357043
23064	SETX	HP:0002141	Gait imbalance	HP:0040282	ORPHA:64753
23064	SETX	HP:0003487	Babinski sign	-	OMIM:602433
23064	SETX	HP:0003487	Babinski sign	HP:0040283	ORPHA:64753
23064	SETX	HP:0003487	Babinski sign	HP:0040282	ORPHA:357043
23064	SETX	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:606002
23064	SETX	HP:0003405	Diffuse axonal swelling	-	OMIM:602433
23064	SETX	HP:0002169	Clonus	HP:0040283	OMIM:602433
23064	SETX	HP:0002174	Postural tremor	HP:0040283	ORPHA:64753
23064	SETX	HP:0010546	Muscle fibrillation	-	OMIM:602433
23064	SETX	HP:0010702	Increased circulating immunoglobulin concentration	-	OMIM:606002
23064	SETX	HP:0033383	Decreased compound muscle action potential amplitude	-	OMIM:602433
23064	SETX	HP:0002398	Degeneration of anterior horn cells	2/2	OMIM:602433
23064	SETX	HP:0002366	Abnormal lower motor neuron morphology	-	OMIM:602433
23064	SETX	HP:0003693	Distal amyotrophy	-	OMIM:602433
23064	SETX	HP:0003693	Distal amyotrophy	10/10	OMIM:606002
23064	SETX	HP:0003676	Progressive	-	OMIM:606002
23064	SETX	HP:0002346	Head tremor	HP:0040283	ORPHA:64753
23064	SETX	HP:0002346	Head tremor	7/37	OMIM:606002
23064	SETX	HP:0003677	Slowly progressive	-	OMIM:602433
23064	SETX	HP:0010831	Impaired proprioception	10/10	OMIM:606002
23064	SETX	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:64753
23064	SETX	HP:0003621	Juvenile onset	-	OMIM:602433
23064	SETX	HP:0006855	Cerebellar vermis atrophy	HP:0040281	ORPHA:64753
23064	SETX	HP:0006825	Pallor of dorsal columns of the spinal cord	-	OMIM:602433
23064	SETX	HP:0006827	Atrophy of the spinal cord	2/2	OMIM:602433
23064	SETX	HP:0006879	Pontocerebellar atrophy	-	OMIM:606002
23064	SETX	HP:0006886	Impaired distal vibration sensation	-	OMIM:606002
23064	SETX	HP:0000640	Gaze-evoked nystagmus	HP:0040282	ORPHA:64753
23064	SETX	HP:0000640	Gaze-evoked nystagmus	-	OMIM:606002
23064	SETX	HP:0000639	Nystagmus	15/29	OMIM:606002
23064	SETX	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:64753
23064	SETX	HP:0000657	Oculomotor apraxia	18/47	OMIM:606002
23064	SETX	HP:0006937	Impaired distal tactile sensation	57%	OMIM:606002
23064	SETX	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:64753
23064	SETX	HP:0000764	Peripheral axonal degeneration	-	OMIM:602433
23064	SETX	HP:0011462	Young adult onset	-	OMIM:602433
23064	SETX	HP:0003124	Hypercholesterolemia	HP:0040283	ORPHA:64753
23064	SETX	HP:0040078	Axonal degeneration	-	OMIM:602433
23064	SETX	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:64753
23064	SETX	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:606002
23064	SETX	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:357043
23064	SETX	HP:0030007	EMG: positive sharp waves	-	OMIM:602433
23064	SETX	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040283	ORPHA:64753
23064	SETX	HP:0000486	Strabismus	HP:0040283	ORPHA:64753
23064	SETX	HP:0000486	Strabismus	30%	OMIM:606002
23064	SETX	HP:0001761	Pes cavus	12/18	OMIM:606002
23064	SETX	HP:0001761	Pes cavus	HP:0040283	ORPHA:357043
23064	SETX	HP:0000524	Conjunctival telangiectasia	HP:0040283	OMIM:606002
23065	EMC1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
23065	EMC1	HP:0001290	Generalized hypotonia	-	OMIM:616875
23065	EMC1	HP:0001272	Cerebellar atrophy	6/6	OMIM:616875
23065	EMC1	HP:0001250	Seizure	1/7	OMIM:616875
23065	EMC1	HP:0001249	Intellectual disability	-	OMIM:616875
23065	EMC1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:480898
23065	EMC1	HP:0001265	Hyporeflexia	5/6	OMIM:616875
23065	EMC1	HP:0001263	Global developmental delay	17/17	OMIM:616875
23065	EMC1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:480898
23065	EMC1	HP:0008755	Laryngotracheomalacia	-	OMIM:616875
23065	EMC1	HP:0008755	Laryngotracheomalacia	HP:0040283	ORPHA:480898
23065	EMC1	HP:0007371	Corpus callosum atrophy	6/6	OMIM:616875
23065	EMC1	HP:0007371	Corpus callosum atrophy	HP:0040281	ORPHA:480898
23065	EMC1	HP:0001212	Prominent fingertip pads	HP:0040282	ORPHA:480898
23065	EMC1	HP:0001212	Prominent fingertip pads	3/7	OMIM:616875
23065	EMC1	HP:0002509	Limb hypertonia	HP:0040282	ORPHA:480898
23065	EMC1	HP:0002509	Limb hypertonia	4/7	OMIM:616875
23065	EMC1	HP:0001332	Dystonia	HP:0040283	OMIM:616875
23065	EMC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
23065	EMC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616875
23065	EMC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
23065	EMC1	HP:0002650	Scoliosis	HP:0040282	ORPHA:480898
23065	EMC1	HP:0002650	Scoliosis	5/7	OMIM:616875
23065	EMC1	HP:0000188	Short upper lip	1/7	OMIM:616875
23065	EMC1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
23065	EMC1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
23065	EMC1	HP:0008936	Axial hypotonia	6/7	OMIM:616875
23065	EMC1	HP:0002023	Anal atresia	-	OMIM:616875
23065	EMC1	HP:0002023	Anal atresia	HP:0040283	ORPHA:480898
23065	EMC1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:616875
23065	EMC1	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:480898
23065	EMC1	HP:0002059	Cerebral atrophy	HP:0040283	OMIM:616875
23065	EMC1	HP:0002187	Intellectual disability, profound	HP:0040282	ORPHA:480898
23065	EMC1	HP:0100704	Cerebral visual impairment	-	OMIM:616875
23065	EMC1	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:480898
23065	EMC1	HP:0001045	Vitiligo	HP:0040283	ORPHA:480898
23065	EMC1	HP:0003676	Progressive	-	OMIM:616875
23065	EMC1	HP:0002353	EEG abnormality	HP:0040283	ORPHA:480898
23065	EMC1	HP:0003621	Juvenile onset	8/19	OMIM:180100
23065	EMC1	HP:0000649	Abnormality of visual evoked potentials	3/6	OMIM:616875
23065	EMC1	HP:0000649	Abnormality of visual evoked potentials	HP:0040282	ORPHA:480898
23065	EMC1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:480898
23065	EMC1	HP:0000648	Optic atrophy	-	OMIM:616875
23065	EMC1	HP:0000662	Nyctalopia	26/28	OMIM:180100
23065	EMC1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:480898
23065	EMC1	HP:0031954	Dystonic gait	HP:0040282	ORPHA:480898
23065	EMC1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:480898
23065	EMC1	HP:0000750	Delayed speech and language development	7/7	OMIM:616875
23065	EMC1	HP:0011463	Childhood onset	3/19	OMIM:180100
23065	EMC1	HP:0011462	Young adult onset	8/19	OMIM:180100
23065	EMC1	HP:0100275	Diffuse cerebellar atrophy	HP:0040281	ORPHA:480898
23065	EMC1	HP:0000278	Retrognathia	HP:0040281	ORPHA:480898
23065	EMC1	HP:0000278	Retrognathia	4/7	OMIM:616875
23065	EMC1	HP:0000294	Low anterior hairline	1/7	OMIM:616875
23065	EMC1	HP:0000294	Low anterior hairline	HP:0040283	ORPHA:480898
23065	EMC1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
23065	EMC1	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:480898
23065	EMC1	HP:0000212	Gingival overgrowth	4/7	OMIM:616875
23065	EMC1	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:480898
23065	EMC1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
23065	EMC1	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:480898
23065	EMC1	HP:0000347	Micrognathia	HP:0040283	ORPHA:480898
23065	EMC1	HP:0000347	Micrognathia	1/7	OMIM:616875
23065	EMC1	HP:0000316	Hypertelorism	1/7	OMIM:616875
23065	EMC1	HP:0000322	Short philtrum	HP:0040282	ORPHA:480898
23065	EMC1	HP:0000322	Short philtrum	3/7	OMIM:616875
23065	EMC1	HP:0000483	Astigmatism	-	OMIM:616875
23065	EMC1	HP:0000483	Astigmatism	HP:0040283	ORPHA:480898
23065	EMC1	HP:0000486	Strabismus	HP:0040283	ORPHA:480898
23065	EMC1	HP:0000490	Deeply set eye	HP:0040281	ORPHA:480898
23065	EMC1	HP:0000490	Deeply set eye	5/7	OMIM:616875
23065	EMC1	HP:0012444	Brain atrophy	5/6	OMIM:616875
23065	EMC1	HP:0005484	Secondary microcephaly	3/7	OMIM:616875
23065	EMC1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
23065	EMC1	HP:0000512	Abnormal electroretinogram	3/6	OMIM:616875
23065	EMC1	HP:0000575	Scotoma	5/18	OMIM:180100
23065	EMC1	HP:0000565	Esotropia	-	OMIM:616875
23065	EMC1	HP:0000565	Esotropia	HP:0040283	ORPHA:480898
23065	EMC1	HP:0000540	Hypermetropia	-	OMIM:616875
23065	EMC1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
23065	EMC1	HP:0000545	Myopia	-	OMIM:180100
23065	EMC1	HP:0000545	Myopia	HP:0040283	ORPHA:480898
23065	EMC1	HP:0000545	Myopia	-	OMIM:616875
23067	SETD1B	HP:0001182	Tapered finger	1/3	OMIM:619000
23067	SETD1B	HP:0001256	Intellectual disability, mild	1/2	OMIM:619000
23067	SETD1B	HP:0001263	Global developmental delay	3/3	OMIM:619000
23067	SETD1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:619000
23067	SETD1B	HP:0000179	Thick lower lip vermilion	1/2	OMIM:619000
23067	SETD1B	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:619000
23067	SETD1B	HP:0002187	Intellectual disability, profound	1/2	OMIM:619000
23067	SETD1B	HP:0002392	EEG with polyspike wave complexes	1/2	OMIM:619000
23067	SETD1B	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	-	OMIM:619000
23067	SETD1B	HP:0000739	Anxiety	1/2	OMIM:619000
23067	SETD1B	HP:0000750	Delayed speech and language development	2/3	OMIM:619000
23067	SETD1B	HP:0000729	Autistic behavior	2/2	OMIM:619000
23067	SETD1B	HP:0000293	Full cheeks	1/2	OMIM:619000
23067	SETD1B	HP:0031535	Increased theta frequency activity in EEG	1/1	OMIM:619000
23067	SETD1B	HP:0000321	Square face	1/2	OMIM:619000
23067	SETD1B	HP:0032794	Myoclonic seizure	3/3	OMIM:619000
23067	SETD1B	HP:0011150	Myoclonic absence seizure	1/2	OMIM:619000
23067	SETD1B	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:619000
23067	SETD1B	HP:0005469	Flat occiput	1/2	OMIM:619000
23067	SETD1B	HP:0000574	Thick eyebrow	1/2	OMIM:619000
23078	VWA8	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
23078	VWA8	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
23078	VWA8	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
23078	VWA8	HP:0000006	Autosomal dominant inheritance	-	OMIM:620422
23078	VWA8	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
23078	VWA8	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
23078	VWA8	HP:0007663	Reduced visual acuity	11/11	OMIM:620422
23078	VWA8	HP:0001089	Iris atrophy	1/11	OMIM:620422
23078	VWA8	HP:0003621	Juvenile onset	8/19	OMIM:180100
23078	VWA8	HP:0003621	Juvenile onset	5/9	OMIM:620422
23078	VWA8	HP:0000646	Amblyopia	2/11	OMIM:620422
23078	VWA8	HP:0000608	Macular degeneration	11/11	OMIM:620422
23078	VWA8	HP:0000662	Nyctalopia	11/11	OMIM:620422
23078	VWA8	HP:0000662	Nyctalopia	26/28	OMIM:180100
23078	VWA8	HP:0011463	Childhood onset	3/19	OMIM:180100
23078	VWA8	HP:0011463	Childhood onset	4/9	OMIM:620422
23078	VWA8	HP:0011462	Young adult onset	8/19	OMIM:180100
23078	VWA8	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
23078	VWA8	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
23078	VWA8	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
23078	VWA8	HP:0000510	Rod-cone dystrophy	11/11	OMIM:620422
23078	VWA8	HP:0000575	Scotoma	5/18	OMIM:180100
23078	VWA8	HP:0000543	Optic disc pallor	1/1	OMIM:180100
23078	VWA8	HP:0000545	Myopia	-	OMIM:180100
23086	EXPH5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615028
23086	EXPH5	HP:0001030	Fragile skin	3/3	OMIM:615028
23086	EXPH5	HP:0025092	Epidermal acanthosis	1/1	OMIM:615028
23086	EXPH5	HP:0011463	Childhood onset	3/3	OMIM:615028
23086	EXPH5	HP:0000962	Hyperkeratosis	1/1	OMIM:615028
23086	EXPH5	HP:0008066	Abnormal blistering of the skin	3/3	OMIM:615028
23090	ZNF423	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2318
23090	ZNF423	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
23090	ZNF423	HP:0002419	Molar tooth sign on MRI	HP:0040281	ORPHA:2318
23090	ZNF423	HP:0001250	Seizure	HP:0040283	ORPHA:2318
23090	ZNF423	HP:0001252	Hypotonia	HP:0040281	ORPHA:2318
23090	ZNF423	HP:0001251	Ataxia	HP:0040281	ORPHA:2318
23090	ZNF423	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2318
23090	ZNF423	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2318
23090	ZNF423	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2318
23090	ZNF423	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:2318
23090	ZNF423	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:2318
23090	ZNF423	HP:0000090	Nephronophthisis	-	OMIM:614844
23090	ZNF423	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
23090	ZNF423	HP:0000007	Autosomal recessive inheritance	-	OMIM:614844
23090	ZNF423	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
23090	ZNF423	HP:0000006	Autosomal dominant inheritance	-	OMIM:614844
23090	ZNF423	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:614844
23090	ZNF423	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:2318
23090	ZNF423	HP:0002650	Scoliosis	HP:0040283	ORPHA:2318
23090	ZNF423	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
23090	ZNF423	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
23090	ZNF423	HP:0000113	Polycystic kidney dysplasia	-	OMIM:614844
23090	ZNF423	HP:0002789	Tachypnea	HP:0040281	ORPHA:2318
23090	ZNF423	HP:0000112	Nephropathy	HP:0040281	ORPHA:2318
23090	ZNF423	HP:0002084	Encephalocele	HP:0040283	ORPHA:2318
23090	ZNF423	HP:0002104	Apnea	HP:0040281	ORPHA:2318
23090	ZNF423	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:2318
23090	ZNF423	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:2318
23090	ZNF423	HP:0003621	Juvenile onset	8/19	OMIM:180100
23090	ZNF423	HP:0000639	Nystagmus	HP:0040282	ORPHA:2318
23090	ZNF423	HP:0000618	Blindness	HP:0040282	ORPHA:2318
23090	ZNF423	HP:0000612	Iris coloboma	HP:0040282	ORPHA:2318
23090	ZNF423	HP:0000662	Nyctalopia	26/28	OMIM:180100
23090	ZNF423	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2318
23090	ZNF423	HP:0000729	Autistic behavior	HP:0040282	ORPHA:2318
23090	ZNF423	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2318
23090	ZNF423	HP:0011463	Childhood onset	3/19	OMIM:180100
23090	ZNF423	HP:0011462	Young adult onset	8/19	OMIM:180100
23090	ZNF423	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2318
23090	ZNF423	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:2318
23090	ZNF423	HP:0000276	Long face	HP:0040282	ORPHA:2318
23090	ZNF423	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
23090	ZNF423	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2318
23090	ZNF423	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
23090	ZNF423	HP:0001696	Situs inversus totalis	HP:0040283	OMIM:614844
23090	ZNF423	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2318
23090	ZNF423	HP:0000486	Strabismus	HP:0040283	ORPHA:2318
23090	ZNF423	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2318
23090	ZNF423	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:2318
23090	ZNF423	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
23090	ZNF423	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:2318
23090	ZNF423	HP:0000508	Ptosis	HP:0040282	ORPHA:2318
23090	ZNF423	HP:0000505	Visual impairment	HP:0040282	ORPHA:2318
23090	ZNF423	HP:0000575	Scotoma	5/18	OMIM:180100
23090	ZNF423	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:2318
23090	ZNF423	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:2318
23090	ZNF423	HP:0000546	Retinal degeneration	HP:0040283	OMIM:614844
23090	ZNF423	HP:0000543	Optic disc pallor	1/1	OMIM:180100
23090	ZNF423	HP:0000545	Myopia	-	OMIM:180100
23092	ARHGAP26	HP:0000006	Autosomal dominant inheritance	-	OMIM:607785
23092	ARHGAP26	HP:0001442	Typified by somatic mosaicism	-	OMIM:607785
23092	ARHGAP26	HP:0012209	Juvenile myelomonocytic leukemia	-	OMIM:607785
23093	TTLL5	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
23093	TTLL5	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
23093	TTLL5	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
23093	TTLL5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615860
23093	TTLL5	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
23093	TTLL5	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
23093	TTLL5	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
23093	TTLL5	HP:0007663	Reduced visual acuity	5/5	OMIM:615860
23093	TTLL5	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
23093	TTLL5	HP:0003596	Middle age onset	1/5	OMIM:615860
23093	TTLL5	HP:0003621	Juvenile onset	8/19	OMIM:180100
23093	TTLL5	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
23093	TTLL5	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
23093	TTLL5	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
23093	TTLL5	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
23093	TTLL5	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
23093	TTLL5	HP:0000662	Nyctalopia	26/28	OMIM:180100
23093	TTLL5	HP:0030629	Perifoveal ring of hyperautofluorescence	-	OMIM:615860
23093	TTLL5	HP:0011463	Childhood onset	3/19	OMIM:180100
23093	TTLL5	HP:0011463	Childhood onset	2/5	OMIM:615860
23093	TTLL5	HP:0011462	Young adult onset	8/19	OMIM:180100
23093	TTLL5	HP:0011462	Young adult onset	2/5	OMIM:615860
23093	TTLL5	HP:0030844	Undetectable pattern electroretinogram	4/4	OMIM:615860
23093	TTLL5	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
23093	TTLL5	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
23093	TTLL5	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
23093	TTLL5	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
23093	TTLL5	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
23093	TTLL5	HP:0011003	High myopia	2/5	OMIM:615860
23093	TTLL5	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
23093	TTLL5	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
23093	TTLL5	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
23093	TTLL5	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
23093	TTLL5	HP:0000575	Scotoma	5/18	OMIM:180100
23093	TTLL5	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
23093	TTLL5	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:615860
23093	TTLL5	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
23093	TTLL5	HP:0000543	Optic disc pallor	1/1	OMIM:180100
23093	TTLL5	HP:0000545	Myopia	-	OMIM:180100
23094	SIPA1L3	HP:0000007	Autosomal recessive inheritance	-	OMIM:616851
23094	SIPA1L3	HP:0000519	Developmental cataract	-	OMIM:616851
23095	KIF1B	HP:0002460	Distal muscle weakness	-	OMIM:118210
23095	KIF1B	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0003745	Sporadic	-	OMIM:256700
23095	KIF1B	HP:0025269	Panic attack	HP:0040283	ORPHA:29072
23095	KIF1B	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:29072
23095	KIF1B	HP:0001284	Areflexia	-	OMIM:118210
23095	KIF1B	HP:0001251	Ataxia	-	OMIM:256700
23095	KIF1B	HP:0001265	Hyporeflexia	-	OMIM:118210
23095	KIF1B	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0003829	Typified by incomplete penetrance	-	OMIM:256700
23095	KIF1B	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0000093	Proteinuria	-	OMIM:171300
23095	KIF1B	HP:0000093	Proteinuria	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0033823	Mediastinal mass	-	OMIM:256700
23095	KIF1B	HP:0002664	Neoplasm	-	OMIM:171300
23095	KIF1B	HP:0001342	Cerebral hemorrhage	-	OMIM:171300
23095	KIF1B	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0002668	Paraganglioma	HP:0040281	ORPHA:29072
23095	KIF1B	HP:0001337	Tremor	HP:0040283	ORPHA:29072
23095	KIF1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:118210
23095	KIF1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:171300
23095	KIF1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:256700
23095	KIF1B	HP:0002666	Pheochromocytoma	-	OMIM:171300
23095	KIF1B	HP:0001336	Myoclonus	-	OMIM:256700
23095	KIF1B	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0002653	Bone pain	-	OMIM:256700
23095	KIF1B	HP:0031284	Flushing	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0001442	Typified by somatic mosaicism	-	OMIM:256700
23095	KIF1B	HP:0002018	Nausea	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0002027	Abdominal pain	-	OMIM:256700
23095	KIF1B	HP:0003345	Elevated urinary norepinephrine level	-	OMIM:171300
23095	KIF1B	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0002014	Diarrhea	-	OMIM:256700
23095	KIF1B	HP:0003378	Axonal degeneration/regeneration	-	OMIM:118210
23095	KIF1B	HP:0003376	Steppage gait	-	OMIM:118210
23095	KIF1B	HP:0003383	Onion bulb formation	-	OMIM:118210
23095	KIF1B	HP:0003384	Peripheral axonal atrophy	-	OMIM:118210
23095	KIF1B	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:118210
23095	KIF1B	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0003477	Peripheral axonal neuropathy	2/2	OMIM:118210
23095	KIF1B	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:118210
23095	KIF1B	HP:0002176	Spinal cord compression	-	OMIM:256700
23095	KIF1B	HP:0010543	Opsoclonus	-	OMIM:256700
23095	KIF1B	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0003596	Middle age onset	2/2	OMIM:118210
23095	KIF1B	HP:0002277	Horner syndrome	-	OMIM:256700
23095	KIF1B	HP:0003574	Positive regitine blocking test	-	OMIM:171300
23095	KIF1B	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0003528	Elevated circulating calcitonin concentration	HP:0040283	ORPHA:29072
23095	KIF1B	HP:0009711	Retinal capillary hemangioma	HP:0040283	ORPHA:29072
23095	KIF1B	HP:0100749	Chest pain	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0011979	Elevated urinary dopamine level	-	OMIM:256700
23095	KIF1B	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0011976	Elevated urinary catecholamine level	-	OMIM:256700
23095	KIF1B	HP:0011977	Elevated urinary homovanillic acid	-	OMIM:256700
23095	KIF1B	HP:0011978	Elevated urinary vanillylmandelic acid	-	OMIM:256700
23095	KIF1B	HP:0010628	Facial palsy	1/2	OMIM:118210
23095	KIF1B	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0003693	Distal amyotrophy	20/20	OMIM:118210
23095	KIF1B	HP:0003690	Limb muscle weakness	-	OMIM:118210
23095	KIF1B	HP:0001028	Hemangioma	-	OMIM:171300
23095	KIF1B	HP:0003677	Slowly progressive	-	OMIM:118210
23095	KIF1B	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0200036	Skin nodule	-	OMIM:256700
23095	KIF1B	HP:0009830	Peripheral neuropathy	-	OMIM:118210
23095	KIF1B	HP:0001095	Hypertensive retinopathy	-	OMIM:171300
23095	KIF1B	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:29072
23095	KIF1B	HP:0001962	Palpitations	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0001945	Fever	-	OMIM:256700
23095	KIF1B	HP:0001920	Renal artery stenosis	-	OMIM:171300
23095	KIF1B	HP:0001903	Anemia	-	OMIM:256700
23095	KIF1B	HP:0009027	Foot dorsiflexor weakness	-	OMIM:118210
23095	KIF1B	HP:0003005	Ganglioneuroma	-	OMIM:256700
23095	KIF1B	HP:0003072	Hypercalcemia	-	OMIM:171300
23095	KIF1B	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0003006	Neuroblastoma	-	OMIM:256700
23095	KIF1B	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0000790	Hematuria	HP:0040283	ORPHA:29072
23095	KIF1B	HP:0000875	Episodic hypertension	-	OMIM:171300
23095	KIF1B	HP:0000822	Hypertension	-	OMIM:256700
23095	KIF1B	HP:0000980	Pallor	HP:0040283	ORPHA:29072
23095	KIF1B	HP:0000975	Hyperhidrosis	-	OMIM:171300
23095	KIF1B	HP:0000957	Cafe-au-lait spot	-	OMIM:171300
23095	KIF1B	HP:0012222	Arachnoid hemangiomatosis	HP:0040283	ORPHA:29072
23095	KIF1B	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0001508	Failure to thrive	-	OMIM:256700
23095	KIF1B	HP:0031500	Abdominal mass	-	OMIM:256700
23095	KIF1B	HP:0012378	Fatigue	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0002936	Distal sensory impairment	-	OMIM:118210
23095	KIF1B	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:29072
23095	KIF1B	HP:0001618	Dysphonia	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0001649	Tachycardia	-	OMIM:171300
23095	KIF1B	HP:0001635	Congestive heart failure	-	OMIM:171300
23095	KIF1B	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:29072
23095	KIF1B	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:29072
23095	KIF1B	HP:0001765	Hammertoe	-	OMIM:118210
23095	KIF1B	HP:0001761	Pes cavus	-	OMIM:118210
23095	KIF1B	HP:0006747	Ganglioneuroblastoma	-	OMIM:256700
23095	KIF1B	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:29072
23095	KIF1B	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:29072
23095	KIF1B	HP:0011281	Abnormality of urine catecholamine level	-	OMIM:256700
23095	KIF1B	HP:0000519	Developmental cataract	-	OMIM:171300
23095	KIF1B	HP:0000526	Aniridia	HP:0040284	ORPHA:29072
23095	KIF1B	HP:0001824	Weight loss	HP:0040282	ORPHA:29072
23095	KIF1B	HP:0001824	Weight loss	-	OMIM:256700
23096	IQSEC2	HP:0001169	Broad palm	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0002487	Hyperkinetic movements	HP:0040283	ORPHA:397933
23096	IQSEC2	HP:0001156	Brachydactyly	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:819
23096	IQSEC2	HP:0002465	Poor speech	-	OMIM:309530
23096	IQSEC2	HP:0007328	Impaired pain sensation	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:397933
23096	IQSEC2	HP:0034819	Iris nodule	HP:0040283	ORPHA:819
23096	IQSEC2	HP:0001290	Generalized hypotonia	-	OMIM:309530
23096	IQSEC2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0001250	Seizure	3/13	OMIM:309530
23096	IQSEC2	HP:0001250	Seizure	HP:0040283	ORPHA:819
23096	IQSEC2	HP:0001250	Seizure	HP:0040282	ORPHA:397933
23096	IQSEC2	HP:0001250	Seizure	HP:0040282	ORPHA:217377
23096	IQSEC2	HP:0001252	Hypotonia	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0001252	Hypotonia	HP:0040282	ORPHA:397933
23096	IQSEC2	HP:0001249	Intellectual disability	1/1	OMIM:309530
23096	IQSEC2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:217377
23096	IQSEC2	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:397933
23096	IQSEC2	HP:0008763	No social interaction	1/1	OMIM:309530
23096	IQSEC2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:819
23096	IQSEC2	HP:0000069	Abnormality of the ureter	HP:0040283	ORPHA:819
23096	IQSEC2	HP:0001387	Joint stiffness	HP:0040283	ORPHA:819
23096	IQSEC2	HP:0032508	Polyembolokoilamania	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0032509	Onychotillomania	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0001344	Absent speech	HP:0040283	ORPHA:397933
23096	IQSEC2	HP:0002650	Scoliosis	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0012171	Stereotypical hand wringing	HP:0040282	ORPHA:397933
23096	IQSEC2	HP:0000194	Open mouth	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0000175	Cleft palate	HP:0040283	ORPHA:819
23096	IQSEC2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:819
23096	IQSEC2	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0001423	X-linked dominant inheritance	-	OMIM:309530
23096	IQSEC2	HP:0001419	X-linked recessive inheritance	-	OMIM:309530
23096	IQSEC2	HP:0002720	Decreased circulating IgA concentration	HP:0040283	ORPHA:819
23096	IQSEC2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0002019	Constipation	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0002007	Frontal bossing	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0011800	Midface retrusion	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:819
23096	IQSEC2	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:309530
23096	IQSEC2	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0010535	Sleep apnea	HP:0040283	ORPHA:819
23096	IQSEC2	HP:0003593	Infantile onset	1/1	OMIM:309530
23096	IQSEC2	HP:0100710	Impulsivity	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0100716	Self-injurious behavior	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:397933
23096	IQSEC2	HP:0100729	Large face	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0032041	Vocal cord polyp	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0002376	Developmental regression	HP:0040282	ORPHA:397933
23096	IQSEC2	HP:0002376	Developmental regression	1/1	OMIM:309530
23096	IQSEC2	HP:0002353	EEG abnormality	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0010819	Atonic seizure	1/1	OMIM:309530
23096	IQSEC2	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0010804	Tented upper lip vermilion	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0010780	Hyperacusis	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:819
23096	IQSEC2	HP:5200360	Short REM sleep	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0012689	Abnormal pineal melatonin secretion	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0000680	Delayed eruption of primary teeth	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0000679	Taurodontia	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0000664	Synophrys	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:397933
23096	IQSEC2	HP:0004322	Short stature	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0005607	Abnormal tracheobronchial morphology	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0000739	Anxiety	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0000733	Motor stereotypy	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0000750	Delayed speech and language development	1/1	OMIM:309530
23096	IQSEC2	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:217377
23096	IQSEC2	HP:0000718	Aggressive behavior	3/12	OMIM:309530
23096	IQSEC2	HP:0000717	Autism	HP:0040283	ORPHA:217377
23096	IQSEC2	HP:0000729	Autistic behavior	3/13	OMIM:309530
23096	IQSEC2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:397933
23096	IQSEC2	HP:0012760	Reduced social responsiveness	HP:0040282	ORPHA:397933
23096	IQSEC2	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0003196	Short nose	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0000826	Precocious puberty	HP:0040282	ORPHA:217377
23096	IQSEC2	HP:0000826	Precocious puberty	HP:0040283	ORPHA:819
23096	IQSEC2	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:819
23096	IQSEC2	HP:0000823	Delayed puberty	HP:0040283	ORPHA:819
23096	IQSEC2	HP:0011675	Arrhythmia	HP:0040283	ORPHA:819
23096	IQSEC2	HP:0000280	Coarse facial features	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:397933
23096	IQSEC2	HP:0000252	Microcephaly	HP:0040283	ORPHA:819
23096	IQSEC2	HP:0000248	Brachycephaly	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0000248	Brachycephaly	-	OMIM:309530
23096	IQSEC2	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:819
23096	IQSEC2	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0001513	Obesity	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0001513	Obesity	HP:0040282	ORPHA:217377
23096	IQSEC2	HP:0001609	Hoarse voice	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0001609	Hoarse voice	HP:0040282	ORPHA:217377
23096	IQSEC2	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:217377
23096	IQSEC2	HP:0000337	Broad forehead	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0000347	Micrognathia	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0000347	Micrognathia	HP:0040283	ORPHA:397933
23096	IQSEC2	HP:0000321	Square face	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0000322	Short philtrum	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0000403	Recurrent otitis media	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0000400	Macrotia	HP:0040283	ORPHA:397933
23096	IQSEC2	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0030215	Inappropriate crying	HP:0040283	ORPHA:397933
23096	IQSEC2	HP:0000486	Strabismus	-	OMIM:309530
23096	IQSEC2	HP:0000486	Strabismus	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0000486	Strabismus	HP:0040283	ORPHA:397933
23096	IQSEC2	HP:0000482	Microcornea	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0000490	Deeply set eye	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0000463	Anteverted nares	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:217377
23096	IQSEC2	HP:0001763	Pes planus	HP:0040282	ORPHA:819
23096	IQSEC2	HP:0001763	Pes planus	HP:0040282	ORPHA:217377
23096	IQSEC2	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0001761	Pes cavus	HP:0040282	ORPHA:217377
23096	IQSEC2	HP:0005484	Secondary microcephaly	HP:0040283	OMIM:309530
23096	IQSEC2	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:819
23096	IQSEC2	HP:0012557	EEG with centrotemporal focal spike waves	HP:0040282	ORPHA:217377
23096	IQSEC2	HP:0000541	Retinal detachment	HP:0040283	ORPHA:819
23096	IQSEC2	HP:0000540	Hypermetropia	-	OMIM:309530
23096	IQSEC2	HP:0000545	Myopia	HP:0040282	ORPHA:819
23097	CDK19	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
23097	CDK19	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
23097	CDK19	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
23097	CDK19	HP:0001276	Hypertonia	3/3	OMIM:618916
23097	CDK19	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
23097	CDK19	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
23097	CDK19	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
23097	CDK19	HP:0001250	Seizure	HP:0040282	ORPHA:442835
23097	CDK19	HP:0001250	Seizure	3/3	OMIM:618916
23097	CDK19	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
23097	CDK19	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
23097	CDK19	HP:0001249	Intellectual disability	1/1	OMIM:618916
23097	CDK19	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
23097	CDK19	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
23097	CDK19	HP:0001263	Global developmental delay	3/3	OMIM:618916
23097	CDK19	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
23097	CDK19	HP:0002521	Hypsarrhythmia	-	OMIM:618916
23097	CDK19	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
23097	CDK19	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
23097	CDK19	HP:0001337	Tremor	HP:0040283	ORPHA:442835
23097	CDK19	HP:0000006	Autosomal dominant inheritance	-	OMIM:618916
23097	CDK19	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
23097	CDK19	HP:0002650	Scoliosis	1/3	OMIM:618916
23097	CDK19	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
23097	CDK19	HP:0000154	Wide mouth	3/3	OMIM:618916
23097	CDK19	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
23097	CDK19	HP:0011800	Midface retrusion	1/3	OMIM:618916
23097	CDK19	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
23097	CDK19	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
23097	CDK19	HP:0002059	Cerebral atrophy	1/3	OMIM:618916
23097	CDK19	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
23097	CDK19	HP:0002188	Delayed CNS myelination	1/3	OMIM:618916
23097	CDK19	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
23097	CDK19	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
23097	CDK19	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
23097	CDK19	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
23097	CDK19	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
23097	CDK19	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
23097	CDK19	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
23097	CDK19	HP:0010806	U-Shaped upper lip vermilion	1/3	OMIM:618916
23097	CDK19	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
23097	CDK19	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
23097	CDK19	HP:0000601	Hypotelorism	2/3	OMIM:618916
23097	CDK19	HP:0000687	Widely spaced teeth	3/3	OMIM:618916
23097	CDK19	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
23097	CDK19	HP:0004322	Short stature	HP:0040283	ORPHA:442835
23097	CDK19	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
23097	CDK19	HP:0100023	Recurrent hand flapping	-	OMIM:618916
23097	CDK19	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
23097	CDK19	HP:0000717	Autism	HP:0040283	ORPHA:442835
23097	CDK19	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
23097	CDK19	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
23097	CDK19	HP:0000954	Single transverse palmar crease	-	OMIM:618916
23097	CDK19	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
23097	CDK19	HP:0000218	High palate	1/3	OMIM:618916
23097	CDK19	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
23097	CDK19	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
23097	CDK19	HP:0000348	High forehead	HP:0040283	ORPHA:442835
23097	CDK19	HP:0000316	Hypertelorism	1/3	OMIM:618916
23097	CDK19	HP:0012469	Infantile spasms	2/3	OMIM:618916
23097	CDK19	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
23097	CDK19	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
23097	CDK19	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
23097	CDK19	HP:0000448	Prominent nose	3/3	OMIM:618916
23097	CDK19	HP:0000414	Bulbous nose	3/3	OMIM:618916
23097	CDK19	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
23097	CDK19	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
23097	CDK19	HP:0011228	Horizontal eyebrow	1/3	OMIM:618916
23097	CDK19	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
23097	CDK19	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
23102	TBC1D2B	HP:0001272	Cerebellar atrophy	1/4	OMIM:619323
23102	TBC1D2B	HP:0001256	Intellectual disability, mild	3/4	OMIM:619323
23102	TBC1D2B	HP:0001250	Seizure	4/4	OMIM:619323
23102	TBC1D2B	HP:0001350	Slurred speech	2/4	OMIM:619323
23102	TBC1D2B	HP:0033720	EEG with occipital epileptiform discharges	2/4	OMIM:619323
23102	TBC1D2B	HP:0000007	Autosomal recessive inheritance	-	OMIM:619323
23102	TBC1D2B	HP:0008936	Axial hypotonia	1/4	OMIM:619323
23102	TBC1D2B	HP:0002066	Gait ataxia	2/4	OMIM:619323
23102	TBC1D2B	HP:0002119	Ventriculomegaly	1/4	OMIM:619323
23102	TBC1D2B	HP:0100490	Camptodactyly of finger	2/4	OMIM:619323
23102	TBC1D2B	HP:0002376	Developmental regression	2/4	OMIM:619323
23102	TBC1D2B	HP:0000648	Optic atrophy	2/4	OMIM:619323
23102	TBC1D2B	HP:0000748	Inappropriate laughter	2/4	OMIM:619323
23102	TBC1D2B	HP:0011463	Childhood onset	3/3	OMIM:619323
23102	TBC1D2B	HP:0030793	Jaw swelling	3/4	OMIM:619323
23102	TBC1D2B	HP:0005830	Flexion contracture of toe	2/4	OMIM:619323
23102	TBC1D2B	HP:0000280	Coarse facial features	2/4	OMIM:619323
23102	TBC1D2B	HP:0000212	Gingival overgrowth	3/4	OMIM:619323
23102	TBC1D2B	HP:0011198	EEG with generalized epileptiform discharges	1/4	OMIM:619323
23102	TBC1D2B	HP:0030215	Inappropriate crying	1/4	OMIM:619323
23111	SPART	HP:0001172	Abnormal thumb morphology	HP:0040283	ORPHA:101000
23111	SPART	HP:0001155	Abnormality of the hand	HP:0040282	ORPHA:101000
23111	SPART	HP:0001156	Brachydactyly	-	OMIM:275900
23111	SPART	HP:0002495	Impaired vibratory sensation	HP:0040282	ORPHA:101000
23111	SPART	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:101000
23111	SPART	HP:0025269	Panic attack	HP:0040283	ORPHA:101000
23111	SPART	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:101000
23111	SPART	HP:0001272	Cerebellar atrophy	-	OMIM:275900
23111	SPART	HP:0001270	Motor delay	HP:0040282	ORPHA:101000
23111	SPART	HP:0001270	Motor delay	2/2	OMIM:275900
23111	SPART	HP:0001288	Gait disturbance	-	OMIM:275900
23111	SPART	HP:0001256	Intellectual disability, mild	2/2	OMIM:275900
23111	SPART	HP:0001260	Dysarthria	2/2	OMIM:275900
23111	SPART	HP:0001260	Dysarthria	HP:0040282	ORPHA:101000
23111	SPART	HP:0001263	Global developmental delay	HP:0040282	ORPHA:101000
23111	SPART	HP:0001263	Global developmental delay	-	OMIM:275900
23111	SPART	HP:0001258	Spastic paraplegia	2/2	OMIM:275900
23111	SPART	HP:0001257	Spasticity	HP:0040282	ORPHA:101000
23111	SPART	HP:0007340	Lower limb muscle weakness	2/2	OMIM:275900
23111	SPART	HP:0001371	Flexion contracture	-	OMIM:275900
23111	SPART	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:101000
23111	SPART	HP:0001350	Slurred speech	HP:0040282	ORPHA:101000
23111	SPART	HP:0001347	Hyperreflexia	2/2	OMIM:275900
23111	SPART	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:101000
23111	SPART	HP:0001328	Specific learning disability	HP:0040282	ORPHA:101000
23111	SPART	HP:0000012	Urinary urgency	-	OMIM:275900
23111	SPART	HP:0000007	Autosomal recessive inheritance	-	OMIM:275900
23111	SPART	HP:0001310	Dysmetria	2/2	OMIM:275900
23111	SPART	HP:0001317	Abnormal cerebellum morphology	-	OMIM:275900
23111	SPART	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:101000
23111	SPART	HP:0000126	Hydronephrosis	HP:0040284	ORPHA:101000
23111	SPART	HP:0002751	Kyphoscoliosis	2/2	OMIM:275900
23111	SPART	HP:0002019	Constipation	HP:0040282	ORPHA:101000
23111	SPART	HP:0002015	Dysphagia	2/2	OMIM:275900
23111	SPART	HP:0002015	Dysphagia	HP:0040282	ORPHA:101000
23111	SPART	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:101000
23111	SPART	HP:0002064	Spastic gait	2/2	OMIM:275900
23111	SPART	HP:0002064	Spastic gait	HP:0040283	ORPHA:101000
23111	SPART	HP:0002061	Lower limb spasticity	2/2	OMIM:275900
23111	SPART	HP:0100518	Dysuria	HP:0040282	ORPHA:101000
23111	SPART	HP:0005922	Abnormal hand morphology	HP:0040282	ORPHA:101000
23111	SPART	HP:0009487	Ulnar deviation of the hand	2/2	OMIM:275900
23111	SPART	HP:0003487	Babinski sign	2/2	OMIM:275900
23111	SPART	HP:0003487	Babinski sign	HP:0040282	ORPHA:101000
23111	SPART	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:101000
23111	SPART	HP:0003693	Distal amyotrophy	2/2	OMIM:275900
23111	SPART	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:101000
23111	SPART	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:101000
23111	SPART	HP:0002313	Spastic paraparesis	-	OMIM:275900
23111	SPART	HP:0002313	Spastic paraparesis	HP:0040282	ORPHA:101000
23111	SPART	HP:0002307	Drooling	-	OMIM:275900
23111	SPART	HP:0000639	Nystagmus	0/2	OMIM:275900
23111	SPART	HP:0004322	Short stature	HP:0040282	ORPHA:101000
23111	SPART	HP:0004322	Short stature	-	OMIM:275900
23111	SPART	HP:0006986	Upper limb spasticity	-	OMIM:275900
23111	SPART	HP:0005639	Hyperextensible hand joints	2/2	OMIM:275900
23111	SPART	HP:0006938	Impaired vibration sensation at ankles	2/2	OMIM:275900
23111	SPART	HP:0000738	Hallucinations	HP:0040283	ORPHA:101000
23111	SPART	HP:0000739	Anxiety	HP:0040283	ORPHA:101000
23111	SPART	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:101000
23111	SPART	HP:0000712	Emotional lability	-	OMIM:275900
23111	SPART	HP:0000712	Emotional lability	HP:0040283	ORPHA:101000
23111	SPART	HP:0000709	Psychosis	HP:0040283	ORPHA:101000
23111	SPART	HP:0011463	Childhood onset	2/2	OMIM:275900
23111	SPART	HP:0011449	Knee clonus	-	OMIM:275900
23111	SPART	HP:0011448	Ankle clonus	-	OMIM:275900
23111	SPART	HP:0011448	Ankle clonus	HP:0040283	ORPHA:101000
23111	SPART	HP:0000924	Abnormality of the skeletal system	HP:0040282	ORPHA:101000
23111	SPART	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:101000
23111	SPART	HP:0000286	Epicanthus	HP:0040283	ORPHA:101000
23111	SPART	HP:0030084	Clinodactyly	-	OMIM:275900
23111	SPART	HP:0030084	Clinodactyly	HP:0040283	ORPHA:101000
23111	SPART	HP:0000252	Microcephaly	HP:0040283	ORPHA:101000
23111	SPART	HP:0002857	Genu valgum	HP:0040283	ORPHA:101000
23111	SPART	HP:0001510	Growth delay	HP:0040282	ORPHA:101000
23111	SPART	HP:0011094	Increased overbite	HP:0040282	ORPHA:101000
23111	SPART	HP:0011098	Speech apraxia	HP:0040283	ORPHA:101000
23111	SPART	HP:0012385	Camptodactyly	-	OMIM:275900
23111	SPART	HP:0012371	Hyperplasia of midface	-	OMIM:275900
23111	SPART	HP:0001609	Hoarse voice	HP:0040283	ORPHA:101000
23111	SPART	HP:0000369	Low-set ears	HP:0040283	ORPHA:101000
23111	SPART	HP:0000316	Hypertelorism	HP:0040282	ORPHA:101000
23111	SPART	HP:0000316	Hypertelorism	-	OMIM:275900
23111	SPART	HP:0005288	Abnormal nostril morphology	HP:0040283	ORPHA:101000
23111	SPART	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:101000
23111	SPART	HP:0012450	Chronic constipation	2/2	OMIM:275900
23111	SPART	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:101000
23111	SPART	HP:0001773	Short foot	2/2	OMIM:275900
23111	SPART	HP:0001765	Hammertoe	-	OMIM:275900
23111	SPART	HP:0000448	Prominent nose	HP:0040283	ORPHA:101000
23111	SPART	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:101000
23111	SPART	HP:0001761	Pes cavus	2/2	OMIM:275900
23111	SPART	HP:0001761	Pes cavus	HP:0040283	ORPHA:101000
23112	TNRC6B	HP:0010862	Delayed fine motor development	14/17	OMIM:619243
23112	TNRC6B	HP:0001250	Seizure	1/17	OMIM:619243
23112	TNRC6B	HP:0001252	Hypotonia	10/17	OMIM:619243
23112	TNRC6B	HP:0001249	Intellectual disability	17/17	OMIM:619243
23112	TNRC6B	HP:0001263	Global developmental delay	17/17	OMIM:619243
23112	TNRC6B	HP:0002558	Supernumerary nipple	2/17	OMIM:619243
23112	TNRC6B	HP:0001382	Joint hypermobility	8/17	OMIM:619243
23112	TNRC6B	HP:0000023	Inguinal hernia	2/17	OMIM:619243
23112	TNRC6B	HP:0000028	Cryptorchidism	1/12	OMIM:619243
23112	TNRC6B	HP:0000006	Autosomal dominant inheritance	-	OMIM:619243
23112	TNRC6B	HP:0002023	Anal atresia	1/17	OMIM:619243
23112	TNRC6B	HP:0002194	Delayed gross motor development	12/17	OMIM:619243
23112	TNRC6B	HP:0007018	Attention deficit hyperactivity disorder	11/17	OMIM:619243
23112	TNRC6B	HP:0002360	Sleep abnormality	5/17	OMIM:619243
23112	TNRC6B	HP:0000750	Delayed speech and language development	16/17	OMIM:619243
23112	TNRC6B	HP:0000729	Autistic behavior	8/17	OMIM:619243
23112	TNRC6B	HP:0000826	Precocious puberty	1/17	OMIM:619243
23112	TNRC6B	HP:0000256	Macrocephaly	2/17	OMIM:619243
23112	TNRC6B	HP:0000252	Microcephaly	3/17	OMIM:619243
23112	TNRC6B	HP:0000219	Thin upper lip vermilion	5/17	OMIM:619243
23112	TNRC6B	HP:0000365	Hearing impairment	3/17	OMIM:619243
23112	TNRC6B	HP:0000347	Micrognathia	5/17	OMIM:619243
23112	TNRC6B	HP:0000325	Triangular face	3/17	OMIM:619243
23112	TNRC6B	HP:0000403	Recurrent otitis media	3/17	OMIM:619243
23112	TNRC6B	HP:0000494	Downslanted palpebral fissures	4/17	OMIM:619243
23114	NFASC	HP:0001187	Hyperextensibility of the finger joints	1/1	OMIM:618356
23114	NFASC	HP:0001276	Hypertonia	1/1	OMIM:618356
23114	NFASC	HP:0001272	Cerebellar atrophy	HP:0040284	OMIM:618356
23114	NFASC	HP:0001250	Seizure	HP:0040284	OMIM:618356
23114	NFASC	HP:0001252	Hypotonia	1/1	OMIM:618356
23114	NFASC	HP:0001251	Ataxia	-	OMIM:618356
23114	NFASC	HP:0001265	Hyporeflexia	-	OMIM:618356
23114	NFASC	HP:0001260	Dysarthria	-	OMIM:618356
23114	NFASC	HP:0001263	Global developmental delay	1/1	OMIM:618356
23114	NFASC	HP:0001347	Hyperreflexia	-	OMIM:618356
23114	NFASC	HP:0000007	Autosomal recessive inheritance	-	OMIM:618356
23114	NFASC	HP:0001336	Myoclonus	-	OMIM:618356
23114	NFASC	HP:0001310	Dysmetria	-	OMIM:618356
23114	NFASC	HP:0002643	Neonatal respiratory distress	1/1	OMIM:618356
23114	NFASC	HP:0000162	Glossoptosis	1/1	OMIM:618356
23114	NFASC	HP:0000175	Cleft palate	-	OMIM:618356
23114	NFASC	HP:0002080	Intention tremor	-	OMIM:618356
23114	NFASC	HP:0002093	Respiratory insufficiency	-	OMIM:618356
23114	NFASC	HP:0002075	Dysdiadochokinesis	-	OMIM:618356
23114	NFASC	HP:0003487	Babinski sign	-	OMIM:618356
23114	NFASC	HP:0004886	Congenital laryngeal stridor	1/1	OMIM:618356
23114	NFASC	HP:0002205	Recurrent respiratory infections	1/1	OMIM:618356
23114	NFASC	HP:0011968	Feeding difficulties	HP:0040284	OMIM:618356
23114	NFASC	HP:0003623	Neonatal onset	1/1	OMIM:618356
23114	NFASC	HP:0031936	Delayed ability to walk	-	OMIM:618356
23114	NFASC	HP:0000762	Decreased nerve conduction velocity	-	OMIM:618356
23114	NFASC	HP:0000739	Anxiety	-	OMIM:618356
23114	NFASC	HP:0000718	Aggressive behavior	-	OMIM:618356
23114	NFASC	HP:0000878	11 pairs of ribs	1/1	OMIM:618356
23114	NFASC	HP:0000237	Small anterior fontanelle	1/1	OMIM:618356
23114	NFASC	HP:0000252	Microcephaly	HP:0040284	OMIM:618356
23114	NFASC	HP:0001558	Decreased fetal movement	HP:0040284	OMIM:618356
23114	NFASC	HP:0001508	Failure to thrive	-	OMIM:618356
23114	NFASC	HP:0000347	Micrognathia	1/1	OMIM:618356
23114	NFASC	HP:0000316	Hypertelorism	1/1	OMIM:618356
23114	NFASC	HP:0000431	Wide nasal bridge	1/1	OMIM:618356
23114	NFASC	HP:0000426	Prominent nasal bridge	-	OMIM:618356
23116	TOGARAM1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0025186	Marcus Gunn jaw winking synkinesis	1/5	OMIM:619185
23116	TOGARAM1	HP:0002419	Molar tooth sign on MRI	4/5	OMIM:619185
23116	TOGARAM1	HP:0001290	Generalized hypotonia	1/5	OMIM:619185
23116	TOGARAM1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
23116	TOGARAM1	HP:0001250	Seizure	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
23116	TOGARAM1	HP:0001251	Ataxia	HP:0040281	ORPHA:475
23116	TOGARAM1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
23116	TOGARAM1	HP:0001263	Global developmental delay	4/4	OMIM:619185
23116	TOGARAM1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
23116	TOGARAM1	HP:0008734	Decreased testicular size	2/4	OMIM:619185
23116	TOGARAM1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0000054	Micropenis	1/4	OMIM:619185
23116	TOGARAM1	HP:0001382	Joint hypermobility	1/5	OMIM:619185
23116	TOGARAM1	HP:0000028	Cryptorchidism	1/4	OMIM:619185
23116	TOGARAM1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
23116	TOGARAM1	HP:0001344	Absent speech	1/5	OMIM:619185
23116	TOGARAM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619185
23116	TOGARAM1	HP:0001337	Tremor	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0001320	Cerebellar vermis hypoplasia	1/5	OMIM:619185
23116	TOGARAM1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
23116	TOGARAM1	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
23116	TOGARAM1	HP:0000126	Hydronephrosis	1/5	OMIM:619185
23116	TOGARAM1	HP:0002007	Frontal bossing	2/5	OMIM:619185
23116	TOGARAM1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0002079	Hypoplasia of the corpus callosum	1/5	OMIM:619185
23116	TOGARAM1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0002104	Apnea	HP:0040281	ORPHA:475
23116	TOGARAM1	HP:0003593	Infantile onset	4/5	OMIM:619185
23116	TOGARAM1	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0002240	Hepatomegaly	1/5	OMIM:619185
23116	TOGARAM1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
23116	TOGARAM1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0000657	Oculomotor apraxia	1/5	OMIM:619185
23116	TOGARAM1	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
23116	TOGARAM1	HP:0004322	Short stature	1/5	OMIM:619185
23116	TOGARAM1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0000729	Autistic behavior	1/5	OMIM:619185
23116	TOGARAM1	HP:0011461	Fetal onset	1/5	OMIM:619185
23116	TOGARAM1	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
23116	TOGARAM1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0100259	Postaxial polydactyly	2/5	OMIM:619185
23116	TOGARAM1	HP:0008070	Sparse hair	1/5	OMIM:619185
23116	TOGARAM1	HP:0000276	Long face	HP:0040282	ORPHA:475
23116	TOGARAM1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0000218	High palate	1/5	OMIM:619185
23116	TOGARAM1	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
23116	TOGARAM1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0001513	Obesity	1/5	OMIM:619185
23116	TOGARAM1	HP:0002938	Lumbar hyperlordosis	1/5	OMIM:619185
23116	TOGARAM1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0000358	Posteriorly rotated ears	1/5	OMIM:619185
23116	TOGARAM1	HP:0000369	Low-set ears	2/5	OMIM:619185
23116	TOGARAM1	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0000316	Hypertelorism	2/5	OMIM:619185
23116	TOGARAM1	HP:0006610	Wide intermamillary distance	2/5	OMIM:619185
23116	TOGARAM1	HP:0000486	Strabismus	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0000490	Deeply set eye	2/5	OMIM:619185
23116	TOGARAM1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0000463	Anteverted nares	2/5	OMIM:619185
23116	TOGARAM1	HP:0000475	Broad neck	1/5	OMIM:619185
23116	TOGARAM1	HP:0000445	Wide nose	1/5	OMIM:619185
23116	TOGARAM1	HP:0000431	Wide nasal bridge	2/5	OMIM:619185
23116	TOGARAM1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0005487	Prominent metopic ridge	1/5	OMIM:619185
23116	TOGARAM1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0000508	Ptosis	1/5	OMIM:619185
23116	TOGARAM1	HP:0000508	Ptosis	HP:0040283	ORPHA:475
23116	TOGARAM1	HP:0000568	Microphthalmia	1/5	OMIM:619185
23118	TAB2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
23118	TAB2	HP:0001293	Cranial nerve compression	-	OMIM:131300
23118	TAB2	HP:0001252	Hypotonia	2/7	OMIM:615777
23118	TAB2	HP:0001249	Intellectual disability	5/7	OMIM:615777
23118	TAB2	HP:0001263	Global developmental delay	-	OMIM:615777
23118	TAB2	HP:0002515	Waddling gait	54/102	OMIM:131300
23118	TAB2	HP:0001382	Joint hypermobility	-	OMIM:615777
23118	TAB2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
23118	TAB2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
23118	TAB2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
23118	TAB2	HP:0001324	Muscle weakness	40/96	OMIM:131300
23118	TAB2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
23118	TAB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
23118	TAB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
23118	TAB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
23118	TAB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614980
23118	TAB2	HP:0002650	Scoliosis	12/14	OMIM:131300
23118	TAB2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
23118	TAB2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
23118	TAB2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
23118	TAB2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
23118	TAB2	HP:0000175	Cleft palate	2/7	OMIM:615777
23118	TAB2	HP:0003388	Easy fatigability	36/76	OMIM:131300
23118	TAB2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
23118	TAB2	HP:0004764	Myxomatous mitral valve degeneration	-	OMIM:614980
23118	TAB2	HP:0003577	Congenital onset	2/2	OMIM:614980
23118	TAB2	HP:0032092	Left ventricular outflow tract obstruction	1/2	OMIM:614980
23118	TAB2	HP:0003510	Severe short stature	7/7	OMIM:615777
23118	TAB2	HP:0002315	Headache	-	OMIM:131300
23118	TAB2	HP:0004976	Knee dislocation	6/7	OMIM:615777
23118	TAB2	HP:0009803	Short phalanx of finger	-	OMIM:615777
23118	TAB2	HP:0009763	Limb pain	63/92	OMIM:131300
23118	TAB2	HP:0003621	Juvenile onset	-	OMIM:131300
23118	TAB2	HP:0004942	Aortic aneurysm	1/2	OMIM:614980
23118	TAB2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
23118	TAB2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
23118	TAB2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
23118	TAB2	HP:6001056	Out-toeing	-	OMIM:131300
23118	TAB2	HP:0000651	Diplopia	-	OMIM:131300
23118	TAB2	HP:0001956	Truncal obesity	2/7	OMIM:615777
23118	TAB2	HP:0001903	Anemia	HP:0040283	OMIM:131300
23118	TAB2	HP:0010049	Short metacarpal	-	OMIM:615777
23118	TAB2	HP:0000678	Dental crowding	-	OMIM:615777
23118	TAB2	HP:0000670	Carious teeth	-	OMIM:131300
23118	TAB2	HP:0011304	Broad thumb	2/7	OMIM:615777
23118	TAB2	HP:0000668	Hypodontia	-	OMIM:615777
23118	TAB2	HP:0000664	Synophrys	-	OMIM:615777
23118	TAB2	HP:0004396	Poor appetite	-	OMIM:131300
23118	TAB2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
23118	TAB2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
23118	TAB2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
23118	TAB2	HP:0003026	Short long bone	7/7	OMIM:615777
23118	TAB2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
23118	TAB2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
23118	TAB2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
23118	TAB2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
23118	TAB2	HP:0000750	Delayed speech and language development	-	OMIM:615777
23118	TAB2	HP:0011461	Fetal onset	7/7	OMIM:615777
23118	TAB2	HP:0000774	Narrow chest	2/7	OMIM:615777
23118	TAB2	HP:0000926	Platyspondyly	1/7	OMIM:615777
23118	TAB2	HP:0003180	Flat acetabular roof	-	OMIM:615777
23118	TAB2	HP:0004482	Relative macrocephaly	-	OMIM:615777
23118	TAB2	HP:0004467	Preauricular pit	-	OMIM:187500
23118	TAB2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
23118	TAB2	HP:0000823	Delayed puberty	-	OMIM:131300
23118	TAB2	HP:0000894	Short clavicles	-	OMIM:615777
23118	TAB2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
23118	TAB2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
23118	TAB2	HP:0000286	Epicanthus	1/7	OMIM:615777
23118	TAB2	HP:0000280	Coarse facial features	2/7	OMIM:615777
23118	TAB2	HP:0005110	Atrial fibrillation	1/2	OMIM:614980
23118	TAB2	HP:0002827	Hip dislocation	3/7	OMIM:615777
23118	TAB2	HP:0000252	Microcephaly	-	OMIM:615777
23118	TAB2	HP:0002857	Genu valgum	-	OMIM:131300
23118	TAB2	HP:0001533	Slender build	-	OMIM:131300
23118	TAB2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
23118	TAB2	HP:0007807	Optic nerve compression	-	OMIM:131300
23118	TAB2	HP:0012368	Flat face	7/7	OMIM:615777
23118	TAB2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
23118	TAB2	HP:0000365	Hearing impairment	10/67	OMIM:131300
23118	TAB2	HP:0000343	Long philtrum	1/7	OMIM:615777
23118	TAB2	HP:0011001	Increased bone mineral density	-	OMIM:131300
23118	TAB2	HP:0000337	Broad forehead	-	OMIM:187500
23118	TAB2	HP:0001682	Subvalvular aortic stenosis	1/2	OMIM:614980
23118	TAB2	HP:0001650	Aortic valve stenosis	-	OMIM:614980
23118	TAB2	HP:0001647	Bicuspid aortic valve	1/2	OMIM:614980
23118	TAB2	HP:0000311	Round face	2/7	OMIM:615777
23118	TAB2	HP:0001659	Aortic regurgitation	2/2	OMIM:614980
23118	TAB2	HP:0001629	Ventricular septal defect	-	OMIM:614980
23118	TAB2	HP:0002970	Genu varum	-	OMIM:615777
23118	TAB2	HP:0001636	Tetralogy of Fallot	-	OMIM:614980
23118	TAB2	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
23118	TAB2	HP:0001635	Congestive heart failure	1/2	OMIM:614980
23118	TAB2	HP:0000303	Mandibular prognathia	-	OMIM:131300
23118	TAB2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
23118	TAB2	HP:0000470	Short neck	1/7	OMIM:615777
23118	TAB2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
23118	TAB2	HP:0001763	Pes planus	1/7	OMIM:615777
23118	TAB2	HP:0001840	Metatarsus adductus	-	OMIM:615777
23118	TAB2	HP:0000520	Proptosis	2/4	OMIM:131300
23118	TAB2	HP:0000520	Proptosis	-	OMIM:187500
23118	TAB2	HP:0000520	Proptosis	7/7	OMIM:615777
23118	TAB2	HP:0000592	Blue sclerae	2/7	OMIM:615777
23118	TAB2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
23118	TAB2	HP:0012514	Lower limb pain	4/4	OMIM:131300
23126	POGZ	HP:0001156	Brachydactyly	9/22	OMIM:616364
23126	POGZ	HP:0001159	Syndactyly	3/16	OMIM:616364
23126	POGZ	HP:0008619	Bilateral sensorineural hearing impairment	1/2	OMIM:616364
23126	POGZ	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1/8	OMIM:616364
23126	POGZ	HP:0010862	Delayed fine motor development	16/16	OMIM:616364
23126	POGZ	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:468678
23126	POGZ	HP:0009879	Simplified gyral pattern	3/9	OMIM:616364
23126	POGZ	HP:0001290	Generalized hypotonia	17/25	OMIM:616364
23126	POGZ	HP:0001272	Cerebellar atrophy	HP:0040284	ORPHA:468678
23126	POGZ	HP:0001270	Motor delay	13/22	OMIM:616364
23126	POGZ	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:468678
23126	POGZ	HP:0001250	Seizure	19/50	OMIM:616364
23126	POGZ	HP:0001250	Seizure	HP:0040283	ORPHA:468678
23126	POGZ	HP:0001252	Hypotonia	8/27	OMIM:616364
23126	POGZ	HP:0001249	Intellectual disability	88/91	OMIM:616364
23126	POGZ	HP:0001249	Intellectual disability	HP:0040281	ORPHA:468678
23126	POGZ	HP:0001263	Global developmental delay	87/88	OMIM:616364
23126	POGZ	HP:0001263	Global developmental delay	HP:0040281	ORPHA:468678
23126	POGZ	HP:0002572	Episodic vomiting	11/19	OMIM:616364
23126	POGZ	HP:0002553	Highly arched eyebrow	10/21	OMIM:616364
23126	POGZ	HP:0002515	Waddling gait	1/5	OMIM:616364
23126	POGZ	HP:0000081	Duplicated collecting system	2/5	OMIM:616364
23126	POGZ	HP:0000081	Duplicated collecting system	HP:0040284	ORPHA:468678
23126	POGZ	HP:0000054	Micropenis	2/8	OMIM:616364
23126	POGZ	HP:0001382	Joint hypermobility	11/47	OMIM:616364
23126	POGZ	HP:0001382	Joint hypermobility	HP:0040284	ORPHA:468678
23126	POGZ	HP:0000023	Inguinal hernia	2/7	OMIM:616364
23126	POGZ	HP:0000023	Inguinal hernia	HP:0040284	ORPHA:468678
23126	POGZ	HP:0001357	Plagiocephaly	4/15	OMIM:616364
23126	POGZ	HP:0000028	Cryptorchidism	4/9	OMIM:616364
23126	POGZ	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:468678
23126	POGZ	HP:0033725	Thin corpus callosum	1/2	OMIM:616364
23126	POGZ	HP:0001344	Absent speech	HP:0040283	ORPHA:468678
23126	POGZ	HP:0000006	Autosomal dominant inheritance	-	OMIM:616364
23126	POGZ	HP:0001305	Dandy-Walker malformation	3/9	OMIM:616364
23126	POGZ	HP:0002650	Scoliosis	3/15	OMIM:616364
23126	POGZ	HP:0001321	Cerebellar hypoplasia	9/9	OMIM:616364
23126	POGZ	HP:0002645	Wormian bones	1/5	OMIM:616364
23126	POGZ	HP:0000194	Open mouth	HP:0040283	ORPHA:468678
23126	POGZ	HP:0000194	Open mouth	13/20	OMIM:616364
23126	POGZ	HP:0000193	Bifid uvula	2/15	OMIM:616364
23126	POGZ	HP:0000160	Narrow mouth	HP:0040283	ORPHA:468678
23126	POGZ	HP:0012157	Subcortical cerebral atrophy	HP:0040284	ORPHA:468678
23126	POGZ	HP:0000158	Macroglossia	6/14	OMIM:616364
23126	POGZ	HP:0000175	Cleft palate	5/20	OMIM:616364
23126	POGZ	HP:0000154	Wide mouth	9/17	OMIM:616364
23126	POGZ	HP:0008947	Floppy infant	HP:0040282	ORPHA:468678
23126	POGZ	HP:0008936	Axial hypotonia	8/12	OMIM:616364
23126	POGZ	HP:0012110	Hypoplasia of the pons	HP:0040284	ORPHA:468678
23126	POGZ	HP:0002719	Recurrent infections	6/25	OMIM:616364
23126	POGZ	HP:0002714	Downturned corners of mouth	HP:0040284	ORPHA:468678
23126	POGZ	HP:0002714	Downturned corners of mouth	19/49	OMIM:616364
23126	POGZ	HP:0002721	Immunodeficiency	1/5	OMIM:616364
23126	POGZ	HP:0002020	Gastroesophageal reflux	6/43	OMIM:616364
23126	POGZ	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:468678
23126	POGZ	HP:0002019	Constipation	13/42	OMIM:616364
23126	POGZ	HP:0002033	Poor suck	1/5	OMIM:616364
23126	POGZ	HP:0011800	Midface retrusion	23/29	OMIM:616364
23126	POGZ	HP:0011800	Midface retrusion	HP:0040283	ORPHA:468678
23126	POGZ	HP:0002079	Hypoplasia of the corpus callosum	11/18	OMIM:616364
23126	POGZ	HP:0002079	Hypoplasia of the corpus callosum	HP:0040284	ORPHA:468678
23126	POGZ	HP:0002059	Cerebral atrophy	10/17	OMIM:616364
23126	POGZ	HP:0002120	Cerebral cortical atrophy	HP:0040284	ORPHA:468678
23126	POGZ	HP:0002119	Ventriculomegaly	10/10	OMIM:616364
23126	POGZ	HP:0002188	Delayed CNS myelination	HP:0040284	ORPHA:468678
23126	POGZ	HP:0002188	Delayed CNS myelination	6/15	OMIM:616364
23126	POGZ	HP:0002194	Delayed gross motor development	80/87	OMIM:616364
23126	POGZ	HP:0002173	Hypoglycemic seizures	1/2	OMIM:616364
23126	POGZ	HP:0002263	Exaggerated cupid's bow	16/20	OMIM:616364
23126	POGZ	HP:0003593	Infantile onset	15/18	OMIM:616364
23126	POGZ	HP:0003577	Congenital onset	2/18	OMIM:616364
23126	POGZ	HP:0100704	Cerebral visual impairment	3/8	OMIM:616364
23126	POGZ	HP:0100716	Self-injurious behavior	HP:0040284	ORPHA:468678
23126	POGZ	HP:0100716	Self-injurious behavior	13/23	OMIM:616364
23126	POGZ	HP:0002205	Recurrent respiratory infections	10/18	OMIM:616364
23126	POGZ	HP:0002280	Enlarged cisterna magna	HP:0040284	ORPHA:468678
23126	POGZ	HP:0007018	Attention deficit hyperactivity disorder	15/19	OMIM:616364
23126	POGZ	HP:0011968	Feeding difficulties	32/51	OMIM:616364
23126	POGZ	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:468678
23126	POGZ	HP:0002384	Focal impaired awareness seizure	HP:0040284	ORPHA:468678
23126	POGZ	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:616364
23126	POGZ	HP:0002365	Hypoplasia of the brainstem	3/9	OMIM:616364
23126	POGZ	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:468678
23126	POGZ	HP:0002360	Sleep abnormality	1/5	OMIM:616364
23126	POGZ	HP:0001045	Vitiligo	HP:0040284	ORPHA:468678
23126	POGZ	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040284	ORPHA:468678
23126	POGZ	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/12	OMIM:616364
23126	POGZ	HP:0002353	EEG abnormality	HP:0040283	ORPHA:468678
23126	POGZ	HP:0010803	Everted upper lip vermilion	12/19	OMIM:616364
23126	POGZ	HP:0008434	Hypoplastic cervical vertebrae	1/5	OMIM:616364
23126	POGZ	HP:0002311	Incoordination	HP:0040284	ORPHA:468678
23126	POGZ	HP:0006863	Severe expressive language delay	HP:0040282	ORPHA:468678
23126	POGZ	HP:0000639	Nystagmus	1/21	OMIM:616364
23126	POGZ	HP:0000649	Abnormality of visual evoked potentials	1/2	OMIM:616364
23126	POGZ	HP:0000648	Optic atrophy	7/17	OMIM:616364
23126	POGZ	HP:0000648	Optic atrophy	HP:0040284	ORPHA:468678
23126	POGZ	HP:0000618	Blindness	HP:0040284	ORPHA:468678
23126	POGZ	HP:0000612	Iris coloboma	HP:0040284	ORPHA:468678
23126	POGZ	HP:0000612	Iris coloboma	1/2	OMIM:616364
23126	POGZ	HP:0000609	Optic nerve hypoplasia	3/10	OMIM:616364
23126	POGZ	HP:0011304	Broad thumb	1/5	OMIM:616364
23126	POGZ	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:468678
23126	POGZ	HP:0004322	Short stature	10/47	OMIM:616364
23126	POGZ	HP:0004322	Short stature	HP:0040282	ORPHA:468678
23126	POGZ	HP:0030674	Antenatal onset	1/13	OMIM:616364
23126	POGZ	HP:0000752	Hyperactivity	HP:0040282	ORPHA:468678
23126	POGZ	HP:0000752	Hyperactivity	4/25	OMIM:616364
23126	POGZ	HP:0100025	Overfriendliness	6/25	OMIM:616364
23126	POGZ	HP:0100033	Tics	1/5	OMIM:616364
23126	POGZ	HP:0000737	Irritability	1/5	OMIM:616364
23126	POGZ	HP:0000739	Anxiety	21/46	OMIM:616364
23126	POGZ	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:468678
23126	POGZ	HP:0000733	Motor stereotypy	4/25	OMIM:616364
23126	POGZ	HP:0000750	Delayed speech and language development	98/102	OMIM:616364
23126	POGZ	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:468678
23126	POGZ	HP:0000744	Low frustration tolerance	10/13	OMIM:616364
23126	POGZ	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:468678
23126	POGZ	HP:0000718	Aggressive behavior	1/5	OMIM:616364
23126	POGZ	HP:0000729	Autistic behavior	48/65	OMIM:616364
23126	POGZ	HP:0000729	Autistic behavior	HP:0040282	ORPHA:468678
23126	POGZ	HP:0000722	Compulsive behaviors	HP:0040284	ORPHA:468678
23126	POGZ	HP:0000776	Congenital diaphragmatic hernia	HP:0040284	ORPHA:468678
23126	POGZ	HP:0000776	Congenital diaphragmatic hernia	3/18	OMIM:616364
23126	POGZ	HP:0012760	Reduced social responsiveness	26/35	OMIM:616364
23126	POGZ	HP:0012803	Anisometropia	2/10	OMIM:616364
23126	POGZ	HP:0034392	Joint contracture	1/14	OMIM:616364
23126	POGZ	HP:0045075	Sparse eyebrow	4/12	OMIM:616364
23126	POGZ	HP:0008070	Sparse hair	1/5	OMIM:616364
23126	POGZ	HP:0000286	Epicanthus	17/25	OMIM:616364
23126	POGZ	HP:0000278	Retrognathia	4/12	OMIM:616364
23126	POGZ	HP:0025573	Mild myopia	1/5	OMIM:616364
23126	POGZ	HP:0000297	Facial hypotonia	15/23	OMIM:616364
23126	POGZ	HP:0000297	Facial hypotonia	HP:0040284	ORPHA:468678
23126	POGZ	HP:0000272	Malar flattening	HP:0040284	ORPHA:468678
23126	POGZ	HP:0000272	Malar flattening	1/5	OMIM:616364
23126	POGZ	HP:0030084	Clinodactyly	4/16	OMIM:616364
23126	POGZ	HP:0000252	Microcephaly	51/89	OMIM:616364
23126	POGZ	HP:0000252	Microcephaly	HP:0040282	ORPHA:468678
23126	POGZ	HP:0000248	Brachycephaly	HP:0040283	ORPHA:468678
23126	POGZ	HP:0000248	Brachycephaly	20/51	OMIM:616364
23126	POGZ	HP:0000219	Thin upper lip vermilion	20/26	OMIM:616364
23126	POGZ	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:468678
23126	POGZ	HP:0000218	High palate	9/18	OMIM:616364
23126	POGZ	HP:0000218	High palate	HP:0040284	ORPHA:468678
23126	POGZ	HP:0000233	Thin vermilion border	3/5	OMIM:616364
23126	POGZ	HP:0000232	Everted lower lip vermilion	13/19	OMIM:616364
23126	POGZ	HP:0002870	Obstructive sleep apnea	2/5	OMIM:616364
23126	POGZ	HP:0002870	Obstructive sleep apnea	HP:0040284	ORPHA:468678
23126	POGZ	HP:0001537	Umbilical hernia	2/7	OMIM:616364
23126	POGZ	HP:0001508	Failure to thrive	7/18	OMIM:616364
23126	POGZ	HP:0001500	Broad finger	8/19	OMIM:616364
23126	POGZ	HP:0001511	Intrauterine growth retardation	4/21	OMIM:616364
23126	POGZ	HP:0001513	Obesity	HP:0040282	ORPHA:468678
23126	POGZ	HP:0001513	Obesity	12/26	OMIM:616364
23126	POGZ	HP:0012389	Appendicular hypotonia	6/11	OMIM:616364
23126	POGZ	HP:0000396	Overfolded helix	6/15	OMIM:616364
23126	POGZ	HP:0002933	Ventral hernia	HP:0040284	ORPHA:468678
23126	POGZ	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040282	ORPHA:468678
23126	POGZ	HP:0000356	Abnormality of the outer ear	1/2	OMIM:616364
23126	POGZ	HP:0000356	Abnormality of the outer ear	HP:0040283	ORPHA:468678
23126	POGZ	HP:0000358	Posteriorly rotated ears	7/16	OMIM:616364
23126	POGZ	HP:0000358	Posteriorly rotated ears	HP:0040284	ORPHA:468678
23126	POGZ	HP:0000369	Low-set ears	6/19	OMIM:616364
23126	POGZ	HP:0000341	Narrow forehead	2/12	OMIM:616364
23126	POGZ	HP:0000337	Broad forehead	9/17	OMIM:616364
23126	POGZ	HP:0000347	Micrognathia	1/5	OMIM:616364
23126	POGZ	HP:0000316	Hypertelorism	24/30	OMIM:616364
23126	POGZ	HP:0000316	Hypertelorism	HP:0040282	ORPHA:468678
23126	POGZ	HP:0001643	Patent ductus arteriosus	3/19	OMIM:616364
23126	POGZ	HP:0000322	Short philtrum	HP:0040284	ORPHA:468678
23126	POGZ	HP:0000322	Short philtrum	17/47	OMIM:616364
23126	POGZ	HP:0001655	Patent foramen ovale	1/5	OMIM:616364
23126	POGZ	HP:0001627	Abnormal heart morphology	HP:0040284	ORPHA:468678
23126	POGZ	HP:0000307	Pointed chin	HP:0040283	ORPHA:468678
23126	POGZ	HP:0000307	Pointed chin	14/20	OMIM:616364
23126	POGZ	HP:0001631	Atrial septal defect	5/19	OMIM:616364
23126	POGZ	HP:0000303	Mandibular prognathia	8/24	OMIM:616364
23126	POGZ	HP:0000407	Sensorineural hearing impairment	21/66	OMIM:616364
23126	POGZ	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:468678
23126	POGZ	HP:0000403	Recurrent otitis media	13/21	OMIM:616364
23126	POGZ	HP:0005280	Depressed nasal bridge	16/53	OMIM:616364
23126	POGZ	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:468678
23126	POGZ	HP:0000483	Astigmatism	HP:0040283	ORPHA:468678
23126	POGZ	HP:0000483	Astigmatism	15/45	OMIM:616364
23126	POGZ	HP:0000486	Strabismus	19/51	OMIM:616364
23126	POGZ	HP:0000486	Strabismus	HP:0040283	ORPHA:468678
23126	POGZ	HP:0000494	Downslanted palpebral fissures	14/25	OMIM:616364
23126	POGZ	HP:0012448	Delayed myelination	HP:0040284	ORPHA:468678
23126	POGZ	HP:0012450	Chronic constipation	HP:0040283	ORPHA:468678
23126	POGZ	HP:0000455	Broad nasal tip	HP:0040284	ORPHA:468678
23126	POGZ	HP:0000455	Broad nasal tip	15/24	OMIM:616364
23126	POGZ	HP:0000470	Short neck	11/20	OMIM:616364
23126	POGZ	HP:0000470	Short neck	HP:0040284	ORPHA:468678
23126	POGZ	HP:0000437	Depressed nasal tip	4/5	OMIM:616364
23126	POGZ	HP:0001769	Broad foot	1/5	OMIM:616364
23126	POGZ	HP:0000447	Pear-shaped nose	14/22	OMIM:616364
23126	POGZ	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:468678
23126	POGZ	HP:0000510	Rod-cone dystrophy	4/14	OMIM:616364
23126	POGZ	HP:0000512	Abnormal electroretinogram	1/2	OMIM:616364
23126	POGZ	HP:0001837	Broad toe	9/19	OMIM:616364
23126	POGZ	HP:0000508	Ptosis	7/18	OMIM:616364
23126	POGZ	HP:0000505	Visual impairment	1/5	OMIM:616364
23126	POGZ	HP:0000505	Visual impairment	HP:0040282	ORPHA:468678
23126	POGZ	HP:0000582	Upslanted palpebral fissure	2/17	OMIM:616364
23126	POGZ	HP:0000577	Exotropia	2/5	OMIM:616364
23126	POGZ	HP:0000589	Coloboma	2/14	OMIM:616364
23126	POGZ	HP:0000540	Hypermetropia	HP:0040282	ORPHA:468678
23126	POGZ	HP:0000540	Hypermetropia	21/51	OMIM:616364
23126	POGZ	HP:0000545	Myopia	8/43	OMIM:616364
23126	POGZ	HP:0000545	Myopia	HP:0040283	ORPHA:468678
23129	PLXND1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:570
23129	PLXND1	HP:0033568	Left axis deviation	1/4	OMIM:620294
23129	PLXND1	HP:0001270	Motor delay	HP:0040282	ORPHA:570
23129	PLXND1	HP:0001252	Hypotonia	HP:0040282	ORPHA:570
23129	PLXND1	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:570
23129	PLXND1	HP:0031014	Arteria lusoria	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0031014	Arteria lusoria	1/4	OMIM:620294
23129	PLXND1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:570
23129	PLXND1	HP:0012020	Right aortic arch	HP:0040282	ORPHA:3384
23129	PLXND1	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:570
23129	PLXND1	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:570
23129	PLXND1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620294
23129	PLXND1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
23129	PLXND1	HP:0000194	Open mouth	HP:0040281	ORPHA:570
23129	PLXND1	HP:0000175	Cleft palate	HP:0040283	ORPHA:570
23129	PLXND1	HP:0002789	Tachypnea	HP:0040282	ORPHA:3384
23129	PLXND1	HP:0002015	Dysphagia	HP:0040282	ORPHA:570
23129	PLXND1	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0100598	Pulmonary edema	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	HP:0040283	ORPHA:570
23129	PLXND1	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040283	ORPHA:570
23129	PLXND1	HP:0003593	Infantile onset	2/6	OMIM:620294
23129	PLXND1	HP:0003577	Congenital onset	1/6	OMIM:620294
23129	PLXND1	HP:0100783	Breast aplasia	HP:0040283	ORPHA:570
23129	PLXND1	HP:0010628	Facial palsy	HP:0040281	ORPHA:570
23129	PLXND1	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:570
23129	PLXND1	HP:0009751	Aplasia of the pectoralis major muscle	HP:0040282	ORPHA:570
23129	PLXND1	HP:0004971	Pulmonary artery hypoplasia	HP:0040284	ORPHA:3384
23129	PLXND1	HP:0004935	Pulmonary artery atresia	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0004935	Pulmonary artery atresia	1/6	OMIM:620294
23129	PLXND1	HP:0031834	Aortopulmonary collateral arteries	1/6	OMIM:620294
23129	PLXND1	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:570
23129	PLXND1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
23129	PLXND1	HP:0006824	Cranial nerve paralysis	HP:0040281	ORPHA:570
23129	PLXND1	HP:0000602	Ophthalmoplegia	HP:0040281	ORPHA:570
23129	PLXND1	HP:0000691	Microdontia	HP:0040283	ORPHA:570
23129	PLXND1	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0030674	Antenatal onset	3/6	OMIM:620294
23129	PLXND1	HP:0004383	Hypoplastic left heart	3/4	OMIM:620294
23129	PLXND1	HP:0034199	Late first trimester onset	1/3	OMIM:620294
23129	PLXND1	HP:0034198	Second trimester onset	2/3	OMIM:620294
23129	PLXND1	HP:0000767	Pectus excavatum	1/4	OMIM:620294
23129	PLXND1	HP:0000717	Autism	HP:0040283	ORPHA:570
23129	PLXND1	HP:0000778	Hypoplasia of the thymus	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0004415	Pulmonary artery stenosis	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0004408	Abnormality of the sense of smell	HP:0040283	ORPHA:570
23129	PLXND1	HP:0004467	Preauricular pit	-	OMIM:187500
23129	PLXND1	HP:0000849	Adrenocortical abnormality	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:570
23129	PLXND1	HP:0011579	Unbalanced atrioventricular canal defect	1/6	OMIM:620294
23129	PLXND1	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:570
23129	PLXND1	HP:0011560	Mitral atresia	1/4	OMIM:620294
23129	PLXND1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:570
23129	PLXND1	HP:0045060	Aplasia/hypoplasia involving bones of the extremities	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0011660	Anomalous origin of one pulmonary artery from ascending aorta	HP:0040282	ORPHA:3384
23129	PLXND1	HP:0011640	Single coronary artery origin	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0011611	Interrupted aortic arch	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0000961	Cyanosis	HP:0040281	ORPHA:3384
23129	PLXND1	HP:0011680	Single ventricle of indeterminate morphology	1/4	OMIM:620294
23129	PLXND1	HP:0000286	Epicanthus	HP:0040283	ORPHA:570
23129	PLXND1	HP:0000298	Mask-like facies	HP:0040281	ORPHA:570
23129	PLXND1	HP:0025575	Abnormal superior vena cava morphology	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:570
23129	PLXND1	HP:0000218	High palate	HP:0040283	ORPHA:570
23129	PLXND1	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:570
23129	PLXND1	HP:0001522	Death in infancy	HP:0040283	ORPHA:570
23129	PLXND1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:3384
23129	PLXND1	HP:0001511	Intrauterine growth retardation	1/4	OMIM:620294
23129	PLXND1	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040283	ORPHA:570
23129	PLXND1	HP:0005268	Miscarriage	3/4	OMIM:620294
23129	PLXND1	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:570
23129	PLXND1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:570
23129	PLXND1	HP:0000369	Low-set ears	1/4	OMIM:620294
23129	PLXND1	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:3384
23129	PLXND1	HP:0001669	Transposition of the great arteries	1/6	OMIM:620294
23129	PLXND1	HP:0000337	Broad forehead	-	OMIM:187500
23129	PLXND1	HP:0001667	Right ventricular hypertrophy	HP:0040282	ORPHA:3384
23129	PLXND1	HP:0000347	Micrognathia	HP:0040283	ORPHA:570
23129	PLXND1	HP:0001649	Tachycardia	HP:0040281	ORPHA:3384
23129	PLXND1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0001642	Pulmonic stenosis	1/6	OMIM:620294
23129	PLXND1	HP:0001660	Truncus arteriosus	HP:0040280	ORPHA:3384
23129	PLXND1	HP:0001660	Truncus arteriosus	5/10	OMIM:620294
23129	PLXND1	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:3384
23129	PLXND1	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:3384
23129	PLXND1	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:3384
23129	PLXND1	HP:0001627	Abnormal heart morphology	HP:0040281	ORPHA:3384
23129	PLXND1	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:3384
23129	PLXND1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
23129	PLXND1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0007957	Corneal opacity	HP:0040282	ORPHA:570
23129	PLXND1	HP:0005301	Persistent left superior vena cava	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0031635	Anomalous origin of the left common carotid artery from the brachiocephalic artery	HP:0040284	ORPHA:3384
23129	PLXND1	HP:0000498	Blepharitis	HP:0040283	ORPHA:570
23129	PLXND1	HP:0031653	Abnormal heart valve physiology	HP:0040281	ORPHA:3384
23129	PLXND1	HP:0004050	Absent hand	HP:0040283	ORPHA:570
23129	PLXND1	HP:0001719	Double outlet right ventricle	1/6	OMIM:620294
23129	PLXND1	HP:0000486	Strabismus	HP:0040281	ORPHA:570
23129	PLXND1	HP:0000476	Cystic hygroma	1/4	OMIM:620294
23129	PLXND1	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:570
23129	PLXND1	HP:0006704	Abnormal coronary artery morphology	HP:0040283	ORPHA:3384
23129	PLXND1	HP:0000520	Proptosis	-	OMIM:187500
23129	PLXND1	HP:0000508	Ptosis	HP:0040281	ORPHA:570
23129	PLXND1	HP:0000505	Visual impairment	HP:0040283	ORPHA:570
23133	PHF8	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:85287
23133	PHF8	HP:0001176	Large hands	HP:0040281	ORPHA:85287
23133	PHF8	HP:0001176	Large hands	2/7	OMIM:300263
23133	PHF8	HP:0001166	Arachnodactyly	1/7	OMIM:300263
23133	PHF8	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:85287
23133	PHF8	HP:0001256	Intellectual disability, mild	7/7	OMIM:300263
23133	PHF8	HP:0001249	Intellectual disability	1/1	OMIM:300263
23133	PHF8	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:85287
23133	PHF8	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:85287
23133	PHF8	HP:0002650	Scoliosis	HP:0040283	ORPHA:85287
23133	PHF8	HP:0000175	Cleft palate	5/8	OMIM:300263
23133	PHF8	HP:0410030	Cleft lip	6/8	OMIM:300263
23133	PHF8	HP:0001419	X-linked recessive inheritance	-	OMIM:300263
23133	PHF8	HP:0002162	Low posterior hairline	HP:0040283	ORPHA:85287
23133	PHF8	HP:0002162	Low posterior hairline	-	OMIM:300263
23133	PHF8	HP:0010511	Long toe	-	OMIM:300263
23133	PHF8	HP:0000664	Synophrys	HP:0040283	ORPHA:85287
23133	PHF8	HP:0000664	Synophrys	-	OMIM:300263
23133	PHF8	HP:0000750	Delayed speech and language development	-	OMIM:300263
23133	PHF8	HP:0000276	Long face	HP:0040281	ORPHA:85287
23133	PHF8	HP:0000276	Long face	4/4	OMIM:300263
23133	PHF8	HP:0000252	Microcephaly	1/1	OMIM:300263
23133	PHF8	HP:0000202	Orofacial cleft	HP:0040281	ORPHA:85287
23133	PHF8	HP:0000204	Cleft upper lip	HP:0040281	ORPHA:85287
23133	PHF8	HP:0002942	Thoracic kyphosis	-	OMIM:300263
23133	PHF8	HP:0001611	Hypernasal speech	-	OMIM:300263
23133	PHF8	HP:0000340	Sloping forehead	-	OMIM:300263
23133	PHF8	HP:0000336	Prominent supraorbital ridges	-	OMIM:300263
23133	PHF8	HP:0000455	Broad nasal tip	HP:0040281	ORPHA:85287
23133	PHF8	HP:0000455	Broad nasal tip	3/7	OMIM:300263
23133	PHF8	HP:0001763	Pes planus	1/7	OMIM:300263
23133	PHF8	HP:0000582	Upslanted palpebral fissure	-	OMIM:300263
23135	KDM6B	HP:0001169	Broad palm	4/11	OMIM:618505
23135	KDM6B	HP:0001159	Syndactyly	4/12	OMIM:618505
23135	KDM6B	HP:0001270	Motor delay	10/11	OMIM:618505
23135	KDM6B	HP:0001252	Hypotonia	8/12	OMIM:618505
23135	KDM6B	HP:0001263	Global developmental delay	-	OMIM:618505
23135	KDM6B	HP:0002557	Hypoplastic nipples	1/12	OMIM:618505
23135	KDM6B	HP:0001382	Joint hypermobility	4/11	OMIM:618505
23135	KDM6B	HP:0000028	Cryptorchidism	1/8	OMIM:618505
23135	KDM6B	HP:0000006	Autosomal dominant inheritance	-	OMIM:618505
23135	KDM6B	HP:0000193	Bifid uvula	1/12	OMIM:618505
23135	KDM6B	HP:0000164	Abnormality of the dentition	1/12	OMIM:618505
23135	KDM6B	HP:0000154	Wide mouth	2/12	OMIM:618505
23135	KDM6B	HP:0003593	Infantile onset	-	OMIM:618505
23135	KDM6B	HP:0002384	Focal impaired awareness seizure	1/12	OMIM:618505
23135	KDM6B	HP:0001034	Hypermelanotic macule	1/12	OMIM:618505
23135	KDM6B	HP:0002360	Sleep abnormality	1/12	OMIM:618505
23135	KDM6B	HP:0001028	Hemangioma	1/12	OMIM:618505
23135	KDM6B	HP:0004209	Clinodactyly of the 5th finger	2/12	OMIM:618505
23135	KDM6B	HP:0000752	Hyperactivity	1/12	OMIM:618505
23135	KDM6B	HP:0000767	Pectus excavatum	2/12	OMIM:618505
23135	KDM6B	HP:0000750	Delayed speech and language development	11/11	OMIM:618505
23135	KDM6B	HP:0000729	Autistic behavior	6/12	OMIM:618505
23135	KDM6B	HP:0000957	Cafe-au-lait spot	2/12	OMIM:618505
23135	KDM6B	HP:0000286	Epicanthus	4/12	OMIM:618505
23135	KDM6B	HP:0000280	Coarse facial features	6/12	OMIM:618505
23135	KDM6B	HP:0000293	Full cheeks	1/12	OMIM:618505
23135	KDM6B	HP:0000268	Dolichocephaly	1/12	OMIM:618505
23135	KDM6B	HP:0011098	Speech apraxia	1/12	OMIM:618505
23135	KDM6B	HP:0000311	Round face	1/12	OMIM:618505
23135	KDM6B	HP:0000303	Mandibular prognathia	3/12	OMIM:618505
23135	KDM6B	HP:0000400	Macrotia	6/12	OMIM:618505
23135	KDM6B	HP:0005280	Depressed nasal bridge	1/12	OMIM:618505
23135	KDM6B	HP:0000486	Strabismus	1/12	OMIM:618505
23135	KDM6B	HP:0012471	Thick vermilion border	1/12	OMIM:618505
23135	KDM6B	HP:0000426	Prominent nasal bridge	4/12	OMIM:618505
23135	KDM6B	HP:0000506	Telecanthus	1/12	OMIM:618505
23135	KDM6B	HP:0000577	Exotropia	2/12	OMIM:618505
23135	KDM6B	HP:0011220	Prominent forehead	5/12	OMIM:618505
23135	KDM6B	HP:0000565	Esotropia	1/12	OMIM:618505
23137	SMC5	HP:0001298	Encephalopathy	1/4	OMIM:620185
23137	SMC5	HP:0001270	Motor delay	2/4	OMIM:620185
23137	SMC5	HP:0001250	Seizure	1/4	OMIM:620185
23137	SMC5	HP:0001348	Brisk reflexes	1/4	OMIM:620185
23137	SMC5	HP:0000007	Autosomal recessive inheritance	-	OMIM:620185
23137	SMC5	HP:0001310	Dysmetria	1/4	OMIM:620185
23137	SMC5	HP:0000179	Thick lower lip vermilion	1/4	OMIM:620185
23137	SMC5	HP:0002714	Downturned corners of mouth	1/4	OMIM:620185
23137	SMC5	HP:0002020	Gastroesophageal reflux	1/4	OMIM:620185
23137	SMC5	HP:0002007	Frontal bossing	1/4	OMIM:620185
23137	SMC5	HP:0002094	Dyspnea	1/4	OMIM:620185
23137	SMC5	HP:0007018	Attention deficit hyperactivity disorder	1/4	OMIM:620185
23137	SMC5	HP:0001903	Anemia	1/4	OMIM:620185
23137	SMC5	HP:0000699	Diastema	1/4	OMIM:620185
23137	SMC5	HP:0012745	Short palpebral fissure	1/4	OMIM:620185
23137	SMC5	HP:0000771	Gynecomastia	1/4	OMIM:620185
23137	SMC5	HP:0000739	Anxiety	3/4	OMIM:620185
23137	SMC5	HP:0030752	Dacryocystocele	1/4	OMIM:620185
23137	SMC5	HP:0000842	Hyperinsulinemia	1/4	OMIM:620185
23137	SMC5	HP:0000954	Single transverse palmar crease	1/4	OMIM:620185
23137	SMC5	HP:0034349	Supravalvar pulmonary stenosis	1/4	OMIM:620185
23137	SMC5	HP:0000960	Sacral dimple	1/4	OMIM:620185
23137	SMC5	HP:0000286	Epicanthus	1/4	OMIM:620185
23137	SMC5	HP:0000276	Long face	1/4	OMIM:620185
23137	SMC5	HP:0030084	Clinodactyly	2/4	OMIM:620185
23137	SMC5	HP:0002808	Kyphosis	1/4	OMIM:620185
23137	SMC5	HP:0000252	Microcephaly	2/4	OMIM:620185
23137	SMC5	HP:0000218	High palate	1/4	OMIM:620185
23137	SMC5	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	2/4	OMIM:620185
23137	SMC5	HP:0000369	Low-set ears	1/4	OMIM:620185
23137	SMC5	HP:0000347	Micrognathia	1/4	OMIM:620185
23137	SMC5	HP:0001643	Patent ductus arteriosus	1/4	OMIM:620185
23137	SMC5	HP:0001642	Pulmonic stenosis	1/4	OMIM:620185
23137	SMC5	HP:0000325	Triangular face	1/4	OMIM:620185
23137	SMC5	HP:0007902	Vitreous hemorrhage	1/4	OMIM:620185
23137	SMC5	HP:0007968	Remnants of the hyaloid vascular system	2/4	OMIM:620185
23137	SMC5	HP:0001763	Pes planus	2/4	OMIM:620185
23137	SMC5	HP:0000448	Prominent nose	1/4	OMIM:620185
23137	SMC5	HP:0000414	Bulbous nose	1/4	OMIM:620185
23137	SMC5	HP:0000411	Protruding ear	1/4	OMIM:620185
23137	SMC5	HP:0000519	Developmental cataract	1/4	OMIM:620185
23137	SMC5	HP:0000568	Microphthalmia	1/4	OMIM:620185
23137	SMC5	HP:0001873	Thrombocytopenia	1/4	OMIM:620185
23141	ANKLE2	HP:0001181	Adducted thumb	11/12	OMIM:616681
23141	ANKLE2	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
23141	ANKLE2	HP:0009879	Simplified gyral pattern	1/1	OMIM:616681
23141	ANKLE2	HP:0001274	Agenesis of corpus callosum	1/1	OMIM:616681
23141	ANKLE2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
23141	ANKLE2	HP:0001250	Seizure	1/2	OMIM:616681
23141	ANKLE2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
23141	ANKLE2	HP:0001263	Global developmental delay	-	OMIM:616681
23141	ANKLE2	HP:0001257	Spasticity	2/2	OMIM:616681
23141	ANKLE2	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
23141	ANKLE2	HP:0002510	Spastic tetraplegia	1/1	OMIM:616681
23141	ANKLE2	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
23141	ANKLE2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
23141	ANKLE2	HP:0000028	Cryptorchidism	1/1	OMIM:616681
23141	ANKLE2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616681
23141	ANKLE2	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
23141	ANKLE2	HP:0000194	Open mouth	1/2	OMIM:616681
23141	ANKLE2	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
23141	ANKLE2	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
23141	ANKLE2	HP:0003577	Congenital onset	2/2	OMIM:616681
23141	ANKLE2	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
23141	ANKLE2	HP:0020073	Hypopigmented macule	2/2	OMIM:616681
23141	ANKLE2	HP:0001034	Hypermelanotic macule	2/2	OMIM:616681
23141	ANKLE2	HP:0002307	Drooling	1/1	OMIM:616681
23141	ANKLE2	HP:0004325	Decreased body weight	-	OMIM:616681
23141	ANKLE2	HP:0004322	Short stature	HP:0040281	ORPHA:2512
23141	ANKLE2	HP:0004322	Short stature	-	OMIM:616681
23141	ANKLE2	HP:0011451	Primary microcephaly	2/2	OMIM:616681
23141	ANKLE2	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
23141	ANKLE2	HP:0006380	Knee flexion contracture	1/2	OMIM:616681
23141	ANKLE2	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
23141	ANKLE2	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
23141	ANKLE2	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
23141	ANKLE2	HP:0000340	Sloping forehead	2/2	OMIM:616681
23141	ANKLE2	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
23141	ANKLE2	HP:0000347	Micrognathia	1/2	OMIM:616681
23141	ANKLE2	HP:0000506	Telecanthus	1/2	OMIM:616681
23141	ANKLE2	HP:0000508	Ptosis	1/2	OMIM:616681
23141	ANKLE2	HP:0000501	Glaucoma	1/2	OMIM:616681
23141	ANKLE2	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
23149	FCHO1	HP:0002583	Colitis	1/5	OMIM:619164
23149	FCHO1	HP:0010976	Decreased total B cell count	1/5	OMIM:619164
23149	FCHO1	HP:0003819	Death in childhood	3/5	OMIM:619164
23149	FCHO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619164
23149	FCHO1	HP:0012191	B-cell lymphoma	1/5	OMIM:619164
23149	FCHO1	HP:0002716	Lymphadenopathy	3/5	OMIM:619164
23149	FCHO1	HP:0002028	Chronic diarrhea	2/5	OMIM:619164
23149	FCHO1	HP:0100501	Recurrent bronchiolitis	2/5	OMIM:619164
23149	FCHO1	HP:0003593	Infantile onset	3/5	OMIM:619164
23149	FCHO1	HP:0011463	Childhood onset	2/5	OMIM:619164
23149	FCHO1	HP:0001510	Growth delay	3/5	OMIM:619164
23149	FCHO1	HP:0006532	Recurrent pneumonia	5/5	OMIM:619164
23149	FCHO1	HP:0001744	Splenomegaly	3/5	OMIM:619164
23149	FCHO1	HP:0005403	Decreased total T cell count	5/5	OMIM:619164
23149	FCHO1	HP:0001888	Decreased total lymphocyte count	5/5	OMIM:619164
23152	CIC	HP:0001166	Arachnodactyly	1/5	OMIM:617600
23152	CIC	HP:0002465	Poor speech	-	OMIM:617600
23152	CIC	HP:0001270	Motor delay	1/1	OMIM:617600
23152	CIC	HP:0001252	Hypotonia	1/5	OMIM:617600
23152	CIC	HP:0001249	Intellectual disability	-	OMIM:617600
23152	CIC	HP:0001263	Global developmental delay	2/6	OMIM:617600
23152	CIC	HP:0000006	Autosomal dominant inheritance	-	OMIM:617600
23152	CIC	HP:0001336	Myoclonus	1/5	OMIM:617600
23152	CIC	HP:0002650	Scoliosis	1/5	OMIM:617600
23152	CIC	HP:0002069	Bilateral tonic-clonic seizure	1/5	OMIM:617600
23152	CIC	HP:0002072	Chorea	1/5	OMIM:617600
23152	CIC	HP:0002121	Generalized non-motor (absence) seizure	1/5	OMIM:617600
23152	CIC	HP:0003593	Infantile onset	1/5	OMIM:617600
23152	CIC	HP:0007018	Attention deficit hyperactivity disorder	1/5	OMIM:617600
23152	CIC	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:617600
23152	CIC	HP:0002360	Sleep abnormality	1/5	OMIM:617600
23152	CIC	HP:0002376	Developmental regression	1/5	OMIM:617600
23152	CIC	HP:0003623	Neonatal onset	1/5	OMIM:617600
23152	CIC	HP:0003621	Juvenile onset	1/5	OMIM:617600
23152	CIC	HP:0001998	Neonatal hypoglycemia	1/5	OMIM:617600
23152	CIC	HP:0000752	Hyperactivity	1/5	OMIM:617600
23152	CIC	HP:0100021	Cerebral palsy	1/5	OMIM:617600
23152	CIC	HP:0100023	Recurrent hand flapping	1/5	OMIM:617600
23152	CIC	HP:0000739	Anxiety	1/5	OMIM:617600
23152	CIC	HP:0000733	Motor stereotypy	1/5	OMIM:617600
23152	CIC	HP:0000750	Delayed speech and language development	2/6	OMIM:617600
23152	CIC	HP:0000729	Autistic behavior	1/5	OMIM:617600
23152	CIC	HP:0011463	Childhood onset	2/5	OMIM:617600
23152	CIC	HP:0000988	Skin rash	1/5	OMIM:617600
23152	CIC	HP:0001533	Slender build	1/5	OMIM:617600
23152	CIC	HP:0032794	Myoclonic seizure	1/5	OMIM:617600
23152	CIC	HP:0001642	Pulmonic stenosis	1/5	OMIM:617600
23152	CIC	HP:0030148	Heart murmur	1/5	OMIM:617600
23152	CIC	HP:0030223	Perseverative thought	1/5	OMIM:617600
23152	CIC	HP:0001763	Pes planus	1/5	OMIM:617600
23154	NCDN	HP:0001249	Intellectual disability	2/2	OMIM:619373
23154	NCDN	HP:0007359	Focal-onset seizure	1/2	OMIM:619373
23154	NCDN	HP:0000006	Autosomal dominant inheritance	-	OMIM:619373
23154	NCDN	HP:0002188	Delayed CNS myelination	1/2	OMIM:619373
23154	NCDN	HP:0003593	Infantile onset	2/2	OMIM:619373
23154	NCDN	HP:0004322	Short stature	1/2	OMIM:619373
23154	NCDN	HP:0031936	Delayed ability to walk	2/2	OMIM:619373
23154	NCDN	HP:0000750	Delayed speech and language development	2/2	OMIM:619373
23154	NCDN	HP:0000286	Epicanthus	1/2	OMIM:619373
23154	NCDN	HP:0000218	High palate	1/2	OMIM:619373
23154	NCDN	HP:0011097	Epileptic spasm	2/2	OMIM:619373
23154	NCDN	HP:0032794	Myoclonic seizure	1/2	OMIM:619373
23154	NCDN	HP:0000316	Hypertelorism	1/2	OMIM:619373
23154	NCDN	HP:0000565	Esotropia	1/2	OMIM:619373
23155	CLCC1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
23155	CLCC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
23155	CLCC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:609913
23155	CLCC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
23155	CLCC1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
23155	CLCC1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
23155	CLCC1	HP:0007663	Reduced visual acuity	-	OMIM:609913
23155	CLCC1	HP:0003621	Juvenile onset	8/19	OMIM:180100
23155	CLCC1	HP:0000613	Photophobia	-	OMIM:609913
23155	CLCC1	HP:0000662	Nyctalopia	26/28	OMIM:180100
23155	CLCC1	HP:0000662	Nyctalopia	-	OMIM:609913
23155	CLCC1	HP:0030609	Photoreceptor layer loss on macular OCT	-	OMIM:609913
23155	CLCC1	HP:0011463	Childhood onset	3/19	OMIM:180100
23155	CLCC1	HP:0011462	Young adult onset	8/19	OMIM:180100
23155	CLCC1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
23155	CLCC1	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:609913
23155	CLCC1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
23155	CLCC1	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:609913
23155	CLCC1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
23155	CLCC1	HP:0000580	Pigmentary retinopathy	-	OMIM:609913
23155	CLCC1	HP:0000575	Scotoma	5/18	OMIM:180100
23155	CLCC1	HP:0000550	Undetectable electroretinogram	-	OMIM:609913
23155	CLCC1	HP:0000546	Retinal degeneration	-	OMIM:609913
23155	CLCC1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
23155	CLCC1	HP:0000543	Optic disc pallor	-	OMIM:609913
23155	CLCC1	HP:0000545	Myopia	-	OMIM:180100
23162	MAPK8IP3	HP:0001272	Cerebellar atrophy	3/13	OMIM:618443
23162	MAPK8IP3	HP:0001252	Hypotonia	9/13	OMIM:618443
23162	MAPK8IP3	HP:0001251	Ataxia	2/13	OMIM:618443
23162	MAPK8IP3	HP:0001249	Intellectual disability	13/13	OMIM:618443
23162	MAPK8IP3	HP:0001263	Global developmental delay	13/13	OMIM:618443
23162	MAPK8IP3	HP:0001257	Spasticity	4/13	OMIM:618443
23162	MAPK8IP3	HP:0001238	Slender finger	1/13	OMIM:618443
23162	MAPK8IP3	HP:0002540	Inability to walk	-	OMIM:618443
23162	MAPK8IP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:618443
23162	MAPK8IP3	HP:0002650	Scoliosis	4/26	OMIM:618443
23162	MAPK8IP3	HP:0001321	Cerebellar hypoplasia	-	OMIM:618443
23162	MAPK8IP3	HP:0000160	Narrow mouth	1/13	OMIM:618443
23162	MAPK8IP3	HP:0500041	Myopic astigmatism	1/13	OMIM:618443
23162	MAPK8IP3	HP:0002020	Gastroesophageal reflux	1/13	OMIM:618443
23162	MAPK8IP3	HP:0003307	Hyperlordosis	1/13	OMIM:618443
23162	MAPK8IP3	HP:0002079	Hypoplasia of the corpus callosum	4/13	OMIM:618443
23162	MAPK8IP3	HP:0002059	Cerebral atrophy	3/13	OMIM:618443
23162	MAPK8IP3	HP:0002197	Generalized-onset seizure	4/13	OMIM:618443
23162	MAPK8IP3	HP:0003593	Infantile onset	-	OMIM:618443
23162	MAPK8IP3	HP:0002240	Hepatomegaly	1/13	OMIM:618443
23162	MAPK8IP3	HP:0100704	Cerebral visual impairment	2/13	OMIM:618443
23162	MAPK8IP3	HP:0002317	Unsteady gait	1/13	OMIM:618443
23162	MAPK8IP3	HP:0200055	Small hand	1/13	OMIM:618443
23162	MAPK8IP3	HP:0004209	Clinodactyly of the 5th finger	1/13	OMIM:618443
23162	MAPK8IP3	HP:0000639	Nystagmus	1/13	OMIM:618443
23162	MAPK8IP3	HP:0012650	Perisylvian polymicrogyria	2/13	OMIM:618443
23162	MAPK8IP3	HP:0000668	Hypodontia	1/13	OMIM:618443
23162	MAPK8IP3	HP:0000664	Synophrys	1/13	OMIM:618443
23162	MAPK8IP3	HP:0004322	Short stature	2/13	OMIM:618443
23162	MAPK8IP3	HP:0031936	Delayed ability to walk	-	OMIM:618443
23162	MAPK8IP3	HP:0000712	Emotional lability	1/13	OMIM:618443
23162	MAPK8IP3	HP:0000729	Autistic behavior	2/13	OMIM:618443
23162	MAPK8IP3	HP:0000722	Compulsive behaviors	1/13	OMIM:618443
23162	MAPK8IP3	HP:0011463	Childhood onset	-	OMIM:618443
23162	MAPK8IP3	HP:0009237	Short 5th finger	1/13	OMIM:618443
23162	MAPK8IP3	HP:0045025	Narrow palpebral fissure	1/13	OMIM:618443
23162	MAPK8IP3	HP:0008081	Pes valgus	1/13	OMIM:618443
23162	MAPK8IP3	HP:0040183	Encopresis	1/13	OMIM:618443
23162	MAPK8IP3	HP:0000293	Full cheeks	1/13	OMIM:618443
23162	MAPK8IP3	HP:0000276	Long face	1/13	OMIM:618443
23162	MAPK8IP3	HP:0002808	Kyphosis	1/13	OMIM:618443
23162	MAPK8IP3	HP:0001572	Macrodontia	1/13	OMIM:618443
23162	MAPK8IP3	HP:0000252	Microcephaly	3/13	OMIM:618443
23162	MAPK8IP3	HP:0000219	Thin upper lip vermilion	-	OMIM:618443
23162	MAPK8IP3	HP:0000218	High palate	1/13	OMIM:618443
23162	MAPK8IP3	HP:0002857	Genu valgum	1/13	OMIM:618443
23162	MAPK8IP3	HP:0001513	Obesity	HP:0040284	OMIM:618443
23162	MAPK8IP3	HP:0002944	Thoracolumbar scoliosis	1/13	OMIM:618443
23162	MAPK8IP3	HP:0000369	Low-set ears	-	OMIM:618443
23162	MAPK8IP3	HP:0000343	Long philtrum	1/13	OMIM:618443
23162	MAPK8IP3	HP:0000347	Micrognathia	1/13	OMIM:618443
23162	MAPK8IP3	HP:0000316	Hypertelorism	1/13	OMIM:618443
23162	MAPK8IP3	HP:0000311	Round face	-	OMIM:618443
23162	MAPK8IP3	HP:0000322	Short philtrum	1/13	OMIM:618443
23162	MAPK8IP3	HP:0000486	Strabismus	1/13	OMIM:618443
23162	MAPK8IP3	HP:0000490	Deeply set eye	-	OMIM:618443
23162	MAPK8IP3	HP:0000463	Anteverted nares	1/13	OMIM:618443
23162	MAPK8IP3	HP:0012448	Delayed myelination	-	OMIM:618443
23162	MAPK8IP3	HP:0001773	Short foot	-	OMIM:618443
23162	MAPK8IP3	HP:0000411	Protruding ear	1/13	OMIM:618443
23162	MAPK8IP3	HP:0000426	Prominent nasal bridge	1/13	OMIM:618443
23162	MAPK8IP3	HP:0000582	Upslanted palpebral fissure	-	OMIM:618443
23162	MAPK8IP3	HP:0000574	Thick eyebrow	1/13	OMIM:618443
23165	NUP205	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
23165	NUP205	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:616893
23165	NUP205	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
23165	NUP205	HP:0000097	Focal segmental glomerulosclerosis	-	OMIM:616893
23165	NUP205	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
23165	NUP205	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
23165	NUP205	HP:0000007	Autosomal recessive inheritance	-	OMIM:616893
23165	NUP205	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
23165	NUP205	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
23165	NUP205	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
23165	NUP205	HP:0002315	Headache	HP:0040283	ORPHA:656
23165	NUP205	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
23165	NUP205	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
23165	NUP205	HP:0001945	Fever	HP:0040283	ORPHA:656
23165	NUP205	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
23165	NUP205	HP:0000737	Irritability	HP:0040283	ORPHA:656
23165	NUP205	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
23165	NUP205	HP:0000969	Edema	HP:0040281	ORPHA:656
23165	NUP205	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
23165	NUP205	HP:0012588	Steroid-resistant nephrotic syndrome	-	OMIM:616893
23165	NUP205	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
23166	STAB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620729
23166	STAB1	HP:0031877	Elevated circulating hepcidin concentration	12/12	OMIM:620729
23166	STAB1	HP:0040130	Abnormal circulating iron concentration	0/12	OMIM:620729
23166	STAB1	HP:0040133	Abnormal circulating ferritin concentration	12/12	OMIM:620729
23166	STAB1	HP:0002910	Elevated circulating hepatic transaminase concentration	0/12	OMIM:620729
23169	SLC35D1	HP:0001156	Brachydactyly	-	OMIM:269250
23169	SLC35D1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
23169	SLC35D1	HP:0001293	Cranial nerve compression	-	OMIM:131300
23169	SLC35D1	HP:0001252	Hypotonia	2/7	OMIM:615777
23169	SLC35D1	HP:0001249	Intellectual disability	5/7	OMIM:615777
23169	SLC35D1	HP:0001263	Global developmental delay	-	OMIM:615777
23169	SLC35D1	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:3144
23169	SLC35D1	HP:0031026	Snail-like ilia	2/2	OMIM:269250
23169	SLC35D1	HP:0002515	Waddling gait	54/102	OMIM:131300
23169	SLC35D1	HP:0003826	Stillbirth	-	OMIM:269250
23169	SLC35D1	HP:0001382	Joint hypermobility	-	OMIM:615777
23169	SLC35D1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
23169	SLC35D1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3144
23169	SLC35D1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
23169	SLC35D1	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:3144
23169	SLC35D1	HP:0008873	Disproportionate short-limb short stature	-	OMIM:269250
23169	SLC35D1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
23169	SLC35D1	HP:0001324	Muscle weakness	40/96	OMIM:131300
23169	SLC35D1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
23169	SLC35D1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
23169	SLC35D1	HP:0000007	Autosomal recessive inheritance	-	OMIM:269250
23169	SLC35D1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
23169	SLC35D1	HP:0002650	Scoliosis	12/14	OMIM:131300
23169	SLC35D1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
23169	SLC35D1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
23169	SLC35D1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
23169	SLC35D1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
23169	SLC35D1	HP:0000175	Cleft palate	-	OMIM:269250
23169	SLC35D1	HP:0000175	Cleft palate	HP:0040283	ORPHA:3144
23169	SLC35D1	HP:0000175	Cleft palate	2/7	OMIM:615777
23169	SLC35D1	HP:0005019	Diaphyseal undertubulation	HP:0040283	ORPHA:3144
23169	SLC35D1	HP:0012107	Increased fibular diameter	HP:0040281	ORPHA:3144
23169	SLC35D1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:3144
23169	SLC35D1	HP:0003300	Ovoid vertebral bodies	1/1	OMIM:269250
23169	SLC35D1	HP:0011800	Midface retrusion	1/1	OMIM:269250
23169	SLC35D1	HP:0003388	Easy fatigability	36/76	OMIM:131300
23169	SLC35D1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
23169	SLC35D1	HP:0008108	Advanced tarsal ossification	-	OMIM:269250
23169	SLC35D1	HP:0008108	Advanced tarsal ossification	HP:0040283	ORPHA:3144
23169	SLC35D1	HP:0003510	Severe short stature	7/7	OMIM:615777
23169	SLC35D1	HP:0001004	Lymphedema	HP:0040281	ORPHA:3144
23169	SLC35D1	HP:0002315	Headache	-	OMIM:131300
23169	SLC35D1	HP:0004976	Knee dislocation	6/7	OMIM:615777
23169	SLC35D1	HP:0009826	Limb undergrowth	2/2	OMIM:269250
23169	SLC35D1	HP:0009803	Short phalanx of finger	-	OMIM:615777
23169	SLC35D1	HP:0008479	Hypoplastic vertebral bodies	HP:0040281	ORPHA:3144
23169	SLC35D1	HP:0008450	Narrow vertebral interpedicular distance	1/1	OMIM:269250
23169	SLC35D1	HP:0009763	Limb pain	63/92	OMIM:131300
23169	SLC35D1	HP:0003621	Juvenile onset	-	OMIM:131300
23169	SLC35D1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
23169	SLC35D1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
23169	SLC35D1	HP:0004233	Advanced ossification of carpal bones	-	OMIM:269250
23169	SLC35D1	HP:6001056	Out-toeing	-	OMIM:131300
23169	SLC35D1	HP:0000651	Diplopia	-	OMIM:131300
23169	SLC35D1	HP:0001956	Truncal obesity	2/7	OMIM:615777
23169	SLC35D1	HP:0001903	Anemia	HP:0040283	OMIM:131300
23169	SLC35D1	HP:0010049	Short metacarpal	-	OMIM:615777
23169	SLC35D1	HP:0000678	Dental crowding	-	OMIM:615777
23169	SLC35D1	HP:0000670	Carious teeth	-	OMIM:131300
23169	SLC35D1	HP:0011304	Broad thumb	2/7	OMIM:615777
23169	SLC35D1	HP:0000668	Hypodontia	-	OMIM:615777
23169	SLC35D1	HP:0000664	Synophrys	-	OMIM:615777
23169	SLC35D1	HP:0005616	Accelerated skeletal maturation	HP:0040283	ORPHA:3144
23169	SLC35D1	HP:0004396	Poor appetite	-	OMIM:131300
23169	SLC35D1	HP:0003038	Fibular hypoplasia	HP:0040281	ORPHA:3144
23169	SLC35D1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
23169	SLC35D1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
23169	SLC35D1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
23169	SLC35D1	HP:0003026	Short long bone	7/7	OMIM:615777
23169	SLC35D1	HP:0003026	Short long bone	2/2	OMIM:269250
23169	SLC35D1	HP:0003025	Metaphyseal irregularity	-	OMIM:269250
23169	SLC35D1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
23169	SLC35D1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
23169	SLC35D1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
23169	SLC35D1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
23169	SLC35D1	HP:0000750	Delayed speech and language development	-	OMIM:615777
23169	SLC35D1	HP:0011461	Fetal onset	7/7	OMIM:615777
23169	SLC35D1	HP:0011461	Fetal onset	2/2	OMIM:269250
23169	SLC35D1	HP:0000774	Narrow chest	HP:0040281	ORPHA:3144
23169	SLC35D1	HP:0000774	Narrow chest	2/7	OMIM:615777
23169	SLC35D1	HP:0000774	Narrow chest	2/2	OMIM:269250
23169	SLC35D1	HP:0000773	Short ribs	HP:0040281	ORPHA:3144
23169	SLC35D1	HP:0000773	Short ribs	-	OMIM:269250
23169	SLC35D1	HP:0003196	Short nose	1/2	OMIM:269250
23169	SLC35D1	HP:0000926	Platyspondyly	1/7	OMIM:615777
23169	SLC35D1	HP:0000926	Platyspondyly	1/1	OMIM:269250
23169	SLC35D1	HP:0003180	Flat acetabular roof	-	OMIM:615777
23169	SLC35D1	HP:0003180	Flat acetabular roof	1/1	OMIM:269250
23169	SLC35D1	HP:0000907	Anterior rib cupping	-	OMIM:269250
23169	SLC35D1	HP:0004482	Relative macrocephaly	-	OMIM:615777
23169	SLC35D1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
23169	SLC35D1	HP:0000882	Hypoplastic scapulae	HP:0040281	ORPHA:3144
23169	SLC35D1	HP:0000882	Hypoplastic scapulae	-	OMIM:269250
23169	SLC35D1	HP:0000823	Delayed puberty	-	OMIM:131300
23169	SLC35D1	HP:0000895	Lateral clavicle hook	20/20	OMIM:269250
23169	SLC35D1	HP:0000895	Lateral clavicle hook	HP:0040281	ORPHA:3144
23169	SLC35D1	HP:0000894	Short clavicles	-	OMIM:615777
23169	SLC35D1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
23169	SLC35D1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
23169	SLC35D1	HP:0000947	Dumbbell-shaped long bone	-	OMIM:269250
23169	SLC35D1	HP:0000947	Dumbbell-shaped long bone	HP:0040283	ORPHA:3144
23169	SLC35D1	HP:0000946	Hypoplastic ilia	HP:0040281	ORPHA:3144
23169	SLC35D1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:3144
23169	SLC35D1	HP:0000286	Epicanthus	1/7	OMIM:615777
23169	SLC35D1	HP:0000280	Coarse facial features	2/7	OMIM:615777
23169	SLC35D1	HP:0000256	Macrocephaly	-	OMIM:269250
23169	SLC35D1	HP:0000256	Macrocephaly	HP:0040281	ORPHA:3144
23169	SLC35D1	HP:0000272	Malar flattening	HP:0040281	ORPHA:3144
23169	SLC35D1	HP:0000272	Malar flattening	-	OMIM:269250
23169	SLC35D1	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:3144
23169	SLC35D1	HP:0002827	Hip dislocation	3/7	OMIM:615777
23169	SLC35D1	HP:0000252	Microcephaly	-	OMIM:615777
23169	SLC35D1	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:3144
23169	SLC35D1	HP:0001561	Polyhydramnios	-	OMIM:269250
23169	SLC35D1	HP:0002857	Genu valgum	-	OMIM:131300
23169	SLC35D1	HP:0001537	Umbilical hernia	1/1	OMIM:269250
23169	SLC35D1	HP:0001538	Protuberant abdomen	1/1	OMIM:269250
23169	SLC35D1	HP:0001533	Slender build	-	OMIM:131300
23169	SLC35D1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
23169	SLC35D1	HP:0007807	Optic nerve compression	-	OMIM:131300
23169	SLC35D1	HP:0012368	Flat face	7/7	OMIM:615777
23169	SLC35D1	HP:0005257	Thoracic hypoplasia	2/2	OMIM:269250
23169	SLC35D1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
23169	SLC35D1	HP:0000365	Hearing impairment	10/67	OMIM:131300
23169	SLC35D1	HP:0000343	Long philtrum	1/7	OMIM:615777
23169	SLC35D1	HP:0011001	Increased bone mineral density	-	OMIM:131300
23169	SLC35D1	HP:0002983	Micromelia	HP:0040281	ORPHA:3144
23169	SLC35D1	HP:0000311	Round face	2/7	OMIM:615777
23169	SLC35D1	HP:0002970	Genu varum	-	OMIM:615777
23169	SLC35D1	HP:0000303	Mandibular prognathia	-	OMIM:131300
23169	SLC35D1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
23169	SLC35D1	HP:0001790	Nonimmune hydrops fetalis	2/2	OMIM:269250
23169	SLC35D1	HP:0000470	Short neck	-	OMIM:269250
23169	SLC35D1	HP:0000470	Short neck	HP:0040281	ORPHA:3144
23169	SLC35D1	HP:0000470	Short neck	1/7	OMIM:615777
23169	SLC35D1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
23169	SLC35D1	HP:0001763	Pes planus	1/7	OMIM:615777
23169	SLC35D1	HP:0001776	Bilateral talipes equinovarus	1/2	OMIM:269250
23169	SLC35D1	HP:0001840	Metatarsus adductus	-	OMIM:615777
23169	SLC35D1	HP:0000520	Proptosis	2/4	OMIM:131300
23169	SLC35D1	HP:0000520	Proptosis	7/7	OMIM:615777
23169	SLC35D1	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:3144
23169	SLC35D1	HP:0000592	Blue sclerae	2/7	OMIM:615777
23169	SLC35D1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
23169	SLC35D1	HP:0012514	Lower limb pain	4/4	OMIM:131300
23171	GPD1L	HP:0001279	Syncope	HP:0040282	ORPHA:130
23171	GPD1L	HP:0001279	Syncope	-	OMIM:611777
23171	GPD1L	HP:0000006	Autosomal dominant inheritance	-	OMIM:611777
23171	GPD1L	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
23171	GPD1L	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
23171	GPD1L	HP:0011712	Complete right bundle branch block	-	OMIM:611777
23171	GPD1L	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
23171	GPD1L	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
23171	GPD1L	HP:0011705	First degree atrioventricular block	-	OMIM:611777
23171	GPD1L	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
23171	GPD1L	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
23171	GPD1L	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
23171	GPD1L	HP:0012248	Prolonged PR interval	7/12	OMIM:611777
23171	GPD1L	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
23171	GPD1L	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
23171	GPD1L	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
23171	GPD1L	HP:0001645	Sudden cardiac death	HP:0040283	OMIM:611777
23171	GPD1L	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
23171	GPD1L	HP:0001663	Ventricular fibrillation	-	OMIM:611777
23175	LPIN1	HP:0010969	Abnormality of glycolipid metabolism	HP:0040282	ORPHA:99845
23175	LPIN1	HP:0003738	Exercise-induced myalgia	HP:0040282	ORPHA:99845
23175	LPIN1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:99845
23175	LPIN1	HP:0001284	Areflexia	-	OMIM:268200
23175	LPIN1	HP:0001265	Hyporeflexia	8/8	OMIM:268200
23175	LPIN1	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:99845
23175	LPIN1	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:99845
23175	LPIN1	HP:0001324	Muscle weakness	8/8	OMIM:268200
23175	LPIN1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:99845
23175	LPIN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:268200
23175	LPIN1	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:99845
23175	LPIN1	HP:0025435	Increased circulating lactate dehydrogenase concentration	3/3	OMIM:268200
23175	LPIN1	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:99845
23175	LPIN1	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040283	ORPHA:99845
23175	LPIN1	HP:0008942	Acute rhabdomyolysis	-	OMIM:268200
23175	LPIN1	HP:0040319	Dark urine	HP:0040281	ORPHA:99845
23175	LPIN1	HP:0003326	Myalgia	8/8	OMIM:268200
23175	LPIN1	HP:0003394	Muscle spasm	HP:0040283	ORPHA:99845
23175	LPIN1	HP:0100520	Oliguria	HP:0040283	ORPHA:99845
23175	LPIN1	HP:0002153	Hyperkalemia	-	OMIM:268200
23175	LPIN1	HP:0002153	Hyperkalemia	HP:0040283	ORPHA:99845
23175	LPIN1	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:99845
23175	LPIN1	HP:0003554	Type 2 muscle fiber atrophy	HP:0040282	ORPHA:99845
23175	LPIN1	HP:0003558	Viral infection-induced rhabdomyolysis	HP:0040282	ORPHA:99845
23175	LPIN1	HP:0008305	Exercise-induced myoglobinuria	HP:0040282	ORPHA:99845
23175	LPIN1	HP:0003652	Recurrent myoglobinuria	HP:0040280	ORPHA:99845
23175	LPIN1	HP:0100614	Myositis	HP:0040282	ORPHA:99845
23175	LPIN1	HP:0003621	Juvenile onset	1/3	OMIM:268200
23175	LPIN1	HP:0005521	Disseminated intravascular coagulation	HP:0040284	ORPHA:99845
23175	LPIN1	HP:0001945	Fever	-	OMIM:268200
23175	LPIN1	HP:0001945	Fever	HP:0040281	ORPHA:99845
23175	LPIN1	HP:0001919	Acute kidney injury	-	OMIM:268200
23175	LPIN1	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:99845
23175	LPIN1	HP:0011463	Childhood onset	7/8	OMIM:268200
23175	LPIN1	HP:0003236	Elevated circulating creatine kinase concentration	8/8	OMIM:268200
23175	LPIN1	HP:0045037	Abnormality of jaw muscles	HP:0040283	ORPHA:99845
23175	LPIN1	HP:0011675	Arrhythmia	HP:0040283	ORPHA:99845
23175	LPIN1	HP:0005216	Impaired mastication	HP:0040283	ORPHA:99845
23175	LPIN1	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040283	ORPHA:99845
23175	LPIN1	HP:0002913	Myoglobinuria	8/8	OMIM:268200
23175	LPIN1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:99845
23175	LPIN1	HP:0002905	Hyperphosphatemia	HP:0040283	ORPHA:99845
23175	LPIN1	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:99845
23175	LPIN1	HP:0030234	Highly elevated creatine kinase	HP:0040281	ORPHA:99845
23175	LPIN1	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:99845
23175	LPIN1	HP:0012544	Elevated circulating aldolase concentration	HP:0040282	ORPHA:99845
23184	MESD	HP:0009901	Crumpled ear	1/5	OMIM:618644
23184	MESD	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
23184	MESD	HP:0001293	Cranial nerve compression	-	OMIM:131300
23184	MESD	HP:0001256	Intellectual disability, mild	-	OMIM:259770
23184	MESD	HP:0001252	Hypotonia	-	OMIM:259770
23184	MESD	HP:0001252	Hypotonia	2/7	OMIM:615777
23184	MESD	HP:0001249	Intellectual disability	5/7	OMIM:615777
23184	MESD	HP:0001263	Global developmental delay	1/5	OMIM:618644
23184	MESD	HP:0001263	Global developmental delay	1/1	OMIM:612394
23184	MESD	HP:0001263	Global developmental delay	-	OMIM:615777
23184	MESD	HP:0002553	Highly arched eyebrow	2/5	OMIM:618644
23184	MESD	HP:0002515	Waddling gait	54/102	OMIM:131300
23184	MESD	HP:0001382	Joint hypermobility	-	OMIM:259770
23184	MESD	HP:0001382	Joint hypermobility	-	OMIM:615777
23184	MESD	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
23184	MESD	HP:0002694	Sclerosis of skull base	-	OMIM:131300
23184	MESD	HP:0001357	Plagiocephaly	1/5	OMIM:618644
23184	MESD	HP:0008897	Postnatal growth retardation	-	OMIM:615777
23184	MESD	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
23184	MESD	HP:0008873	Disproportionate short-limb short stature	-	OMIM:618644
23184	MESD	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
23184	MESD	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
23184	MESD	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
23184	MESD	HP:0001324	Muscle weakness	40/96	OMIM:131300
23184	MESD	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
23184	MESD	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
23184	MESD	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
23184	MESD	HP:0000007	Autosomal recessive inheritance	-	OMIM:618644
23184	MESD	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
23184	MESD	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
23184	MESD	HP:0002650	Scoliosis	1/5	OMIM:259770
23184	MESD	HP:0002650	Scoliosis	1/1	OMIM:612394
23184	MESD	HP:0002650	Scoliosis	12/14	OMIM:131300
23184	MESD	HP:0002645	Wormian bones	2/5	OMIM:618644
23184	MESD	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
23184	MESD	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
23184	MESD	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
23184	MESD	HP:0000189	Narrow palate	1/5	OMIM:618644
23184	MESD	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
23184	MESD	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
23184	MESD	HP:0000175	Cleft palate	2/7	OMIM:615777
23184	MESD	HP:0006349	Agenesis of permanent teeth	2/5	OMIM:618644
23184	MESD	HP:0002757	Recurrent fractures	4/5	OMIM:259770
23184	MESD	HP:0002756	Pathologic fracture	-	OMIM:259770
23184	MESD	HP:0002756	Pathologic fracture	1/1	OMIM:612394
23184	MESD	HP:0002751	Kyphoscoliosis	2/5	OMIM:618644
23184	MESD	HP:0002751	Kyphoscoliosis	-	OMIM:259770
23184	MESD	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
23184	MESD	HP:0011800	Midface retrusion	-	OMIM:618644
23184	MESD	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
23184	MESD	HP:0003388	Easy fatigability	36/76	OMIM:131300
23184	MESD	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
23184	MESD	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
23184	MESD	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
23184	MESD	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
23184	MESD	HP:0002194	Delayed gross motor development	5/5	OMIM:618644
23184	MESD	HP:0002164	Nail dysplasia	1/1	OMIM:612394
23184	MESD	HP:0010557	Overlapping fingers	1/2	OMIM:612394
23184	MESD	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
23184	MESD	HP:0003593	Infantile onset	1/5	OMIM:259770
23184	MESD	HP:0003577	Congenital onset	4/5	OMIM:259770
23184	MESD	HP:0002208	Coarse hair	1/1	OMIM:612394
23184	MESD	HP:0003510	Severe short stature	7/7	OMIM:615777
23184	MESD	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
23184	MESD	HP:0025019	Arterial rupture	1/1	OMIM:612394
23184	MESD	HP:0002315	Headache	-	OMIM:131300
23184	MESD	HP:0004976	Knee dislocation	6/7	OMIM:615777
23184	MESD	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
23184	MESD	HP:0010804	Tented upper lip vermilion	2/5	OMIM:618644
23184	MESD	HP:0009803	Short phalanx of finger	-	OMIM:615777
23184	MESD	HP:0001089	Iris atrophy	-	OMIM:259770
23184	MESD	HP:0009763	Limb pain	63/92	OMIM:131300
23184	MESD	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
23184	MESD	HP:0003621	Juvenile onset	-	OMIM:131300
23184	MESD	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
23184	MESD	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
23184	MESD	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
23184	MESD	HP:6001056	Out-toeing	-	OMIM:131300
23184	MESD	HP:0000651	Diplopia	-	OMIM:131300
23184	MESD	HP:0000618	Blindness	5/5	OMIM:259770
23184	MESD	HP:0001956	Truncal obesity	2/7	OMIM:615777
23184	MESD	HP:0001903	Anemia	HP:0040283	OMIM:131300
23184	MESD	HP:0010049	Short metacarpal	-	OMIM:615777
23184	MESD	HP:0000678	Dental crowding	-	OMIM:615777
23184	MESD	HP:0000670	Carious teeth	-	OMIM:131300
23184	MESD	HP:0011304	Broad thumb	2/7	OMIM:615777
23184	MESD	HP:0000668	Hypodontia	-	OMIM:615777
23184	MESD	HP:0000667	Phthisis bulbi	-	OMIM:259770
23184	MESD	HP:0000664	Synophrys	-	OMIM:615777
23184	MESD	HP:0004322	Short stature	-	OMIM:259770
23184	MESD	HP:0004396	Poor appetite	-	OMIM:131300
23184	MESD	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
23184	MESD	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
23184	MESD	HP:0003016	Metaphyseal widening	-	OMIM:259770
23184	MESD	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
23184	MESD	HP:0003026	Short long bone	7/7	OMIM:615777
23184	MESD	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
23184	MESD	HP:0000767	Pectus excavatum	2/7	OMIM:615777
23184	MESD	HP:0000768	Pectus carinatum	1/7	OMIM:615777
23184	MESD	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
23184	MESD	HP:0000750	Delayed speech and language development	1/5	OMIM:618644
23184	MESD	HP:0000750	Delayed speech and language development	-	OMIM:615777
23184	MESD	HP:0011461	Fetal onset	7/7	OMIM:615777
23184	MESD	HP:0011461	Fetal onset	2/2	OMIM:612394
23184	MESD	HP:0000774	Narrow chest	2/5	OMIM:618644
23184	MESD	HP:0000774	Narrow chest	2/7	OMIM:615777
23184	MESD	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
23184	MESD	HP:0003196	Short nose	1/1	OMIM:612394
23184	MESD	HP:0000926	Platyspondyly	-	OMIM:259770
23184	MESD	HP:0000926	Platyspondyly	1/7	OMIM:615777
23184	MESD	HP:0000926	Platyspondyly	1/1	OMIM:612394
23184	MESD	HP:0003180	Flat acetabular roof	-	OMIM:615777
23184	MESD	HP:0004482	Relative macrocephaly	-	OMIM:615777
23184	MESD	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
23184	MESD	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
23184	MESD	HP:0000823	Delayed puberty	-	OMIM:131300
23184	MESD	HP:0000894	Short clavicles	-	OMIM:615777
23184	MESD	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
23184	MESD	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
23184	MESD	HP:0005855	Multiple prenatal fractures	2/5	OMIM:618644
23184	MESD	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
23184	MESD	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
23184	MESD	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
23184	MESD	HP:0000939	Osteoporosis	4/5	OMIM:259770
23184	MESD	HP:0000938	Osteopenia	1/5	OMIM:259770
23184	MESD	HP:0000938	Osteopenia	1/1	OMIM:612394
23184	MESD	HP:0008070	Sparse hair	1/5	OMIM:618644
23184	MESD	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
23184	MESD	HP:0000286	Epicanthus	1/7	OMIM:615777
23184	MESD	HP:0000280	Coarse facial features	2/7	OMIM:615777
23184	MESD	HP:0000278	Retrognathia	2/5	OMIM:618644
23184	MESD	HP:0000272	Malar flattening	1/1	OMIM:612394
23184	MESD	HP:0007773	Vitreoretinopathy	-	OMIM:259770
23184	MESD	HP:0002827	Hip dislocation	3/7	OMIM:615777
23184	MESD	HP:0002808	Kyphosis	1/5	OMIM:259770
23184	MESD	HP:0000252	Microcephaly	3/5	OMIM:618644
23184	MESD	HP:0000252	Microcephaly	-	OMIM:259770
23184	MESD	HP:0000252	Microcephaly	-	OMIM:615777
23184	MESD	HP:0000248	Brachycephaly	1/5	OMIM:618644
23184	MESD	HP:0001552	Barrel-shaped chest	-	OMIM:259770
23184	MESD	HP:0000218	High palate	2/5	OMIM:618644
23184	MESD	HP:0001555	Asymmetry of the thorax	1/5	OMIM:618644
23184	MESD	HP:0002857	Genu valgum	-	OMIM:131300
23184	MESD	HP:0001533	Slender build	-	OMIM:131300
23184	MESD	HP:0001511	Intrauterine growth retardation	-	OMIM:618644
23184	MESD	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
23184	MESD	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
23184	MESD	HP:0007807	Optic nerve compression	-	OMIM:131300
23184	MESD	HP:0012368	Flat face	7/7	OMIM:615777
23184	MESD	HP:0012368	Flat face	1/1	OMIM:612394
23184	MESD	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
23184	MESD	HP:0007875	Congenital blindness	4/5	OMIM:259770
23184	MESD	HP:0007862	Retinal calcification	1/5	OMIM:259770
23184	MESD	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
23184	MESD	HP:0000365	Hearing impairment	10/67	OMIM:131300
23184	MESD	HP:0000358	Posteriorly rotated ears	2/5	OMIM:618644
23184	MESD	HP:0000369	Low-set ears	2/2	OMIM:612394
23184	MESD	HP:0000369	Low-set ears	1/5	OMIM:618644
23184	MESD	HP:0000343	Long philtrum	1/7	OMIM:615777
23184	MESD	HP:0011001	Increased bone mineral density	-	OMIM:131300
23184	MESD	HP:0002982	Tibial bowing	1/5	OMIM:259770
23184	MESD	HP:0000311	Round face	2/7	OMIM:615777
23184	MESD	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
23184	MESD	HP:0001629	Ventricular septal defect	-	OMIM:259770
23184	MESD	HP:0002953	Vertebral compression fracture	1/5	OMIM:618644
23184	MESD	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
23184	MESD	HP:0002970	Genu varum	-	OMIM:615777
23184	MESD	HP:0000307	Pointed chin	1/5	OMIM:618644
23184	MESD	HP:0000307	Pointed chin	1/2	OMIM:612394
23184	MESD	HP:0000303	Mandibular prognathia	-	OMIM:131300
23184	MESD	HP:0000303	Mandibular prognathia	1/5	OMIM:618644
23184	MESD	HP:0005338	Sparse lateral eyebrow	1/5	OMIM:618644
23184	MESD	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
23184	MESD	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
23184	MESD	HP:0000463	Anteverted nares	1/1	OMIM:612394
23184	MESD	HP:0000470	Short neck	1/7	OMIM:615777
23184	MESD	HP:0001769	Broad foot	HP:0040283	OMIM:615777
23184	MESD	HP:0001763	Pes planus	1/7	OMIM:615777
23184	MESD	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
23184	MESD	HP:0000414	Bulbous nose	1/5	OMIM:618644
23184	MESD	HP:0000518	Cataract	1/5	OMIM:259770
23184	MESD	HP:0000518	Cataract	1/1	OMIM:612394
23184	MESD	HP:0001840	Metatarsus adductus	-	OMIM:615777
23184	MESD	HP:0000520	Proptosis	2/4	OMIM:131300
23184	MESD	HP:0000520	Proptosis	7/7	OMIM:615777
23184	MESD	HP:0000592	Blue sclerae	2/5	OMIM:618644
23184	MESD	HP:0000592	Blue sclerae	2/7	OMIM:615777
23184	MESD	HP:0000586	Shallow orbits	1/1	OMIM:612394
23184	MESD	HP:0000568	Microphthalmia	1/5	OMIM:259770
23184	MESD	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
23184	MESD	HP:0012514	Lower limb pain	4/4	OMIM:131300
23184	MESD	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
23184	MESD	HP:0000545	Myopia	1/1	OMIM:612394
23187	PHLDB1	HP:0001256	Intellectual disability, mild	-	OMIM:259770
23187	PHLDB1	HP:0001252	Hypotonia	-	OMIM:259770
23187	PHLDB1	HP:0001263	Global developmental delay	1/1	OMIM:612394
23187	PHLDB1	HP:0008804	Broad femoral head	3/5	OMIM:620639
23187	PHLDB1	HP:0001382	Joint hypermobility	-	OMIM:259770
23187	PHLDB1	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
23187	PHLDB1	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
23187	PHLDB1	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
23187	PHLDB1	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
23187	PHLDB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620639
23187	PHLDB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
23187	PHLDB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
23187	PHLDB1	HP:0002650	Scoliosis	1/5	OMIM:259770
23187	PHLDB1	HP:0002650	Scoliosis	1/1	OMIM:612394
23187	PHLDB1	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
23187	PHLDB1	HP:0002757	Recurrent fractures	4/5	OMIM:259770
23187	PHLDB1	HP:0002757	Recurrent fractures	2/5	OMIM:620639
23187	PHLDB1	HP:0002756	Pathologic fracture	-	OMIM:259770
23187	PHLDB1	HP:0002756	Pathologic fracture	1/1	OMIM:612394
23187	PHLDB1	HP:0002751	Kyphoscoliosis	-	OMIM:259770
23187	PHLDB1	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
23187	PHLDB1	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
23187	PHLDB1	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
23187	PHLDB1	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
23187	PHLDB1	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
23187	PHLDB1	HP:0002164	Nail dysplasia	1/1	OMIM:612394
23187	PHLDB1	HP:0010557	Overlapping fingers	1/2	OMIM:612394
23187	PHLDB1	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
23187	PHLDB1	HP:0003593	Infantile onset	1/5	OMIM:259770
23187	PHLDB1	HP:0003577	Congenital onset	4/5	OMIM:259770
23187	PHLDB1	HP:0002208	Coarse hair	1/1	OMIM:612394
23187	PHLDB1	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
23187	PHLDB1	HP:0025019	Arterial rupture	1/1	OMIM:612394
23187	PHLDB1	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
23187	PHLDB1	HP:0001089	Iris atrophy	-	OMIM:259770
23187	PHLDB1	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
23187	PHLDB1	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
23187	PHLDB1	HP:0000618	Blindness	5/5	OMIM:259770
23187	PHLDB1	HP:0001956	Truncal obesity	5/5	OMIM:620639
23187	PHLDB1	HP:0000667	Phthisis bulbi	-	OMIM:259770
23187	PHLDB1	HP:0004322	Short stature	2/5	OMIM:620639
23187	PHLDB1	HP:0004322	Short stature	-	OMIM:259770
23187	PHLDB1	HP:0003016	Metaphyseal widening	-	OMIM:259770
23187	PHLDB1	HP:0004349	Reduced bone mineral density	5/5	OMIM:620639
23187	PHLDB1	HP:0011461	Fetal onset	2/2	OMIM:612394
23187	PHLDB1	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
23187	PHLDB1	HP:0003196	Short nose	1/1	OMIM:612394
23187	PHLDB1	HP:0000926	Platyspondyly	-	OMIM:259770
23187	PHLDB1	HP:0000926	Platyspondyly	1/1	OMIM:612394
23187	PHLDB1	HP:0003182	Shallow acetabular fossae	5/5	OMIM:620639
23187	PHLDB1	HP:0000855	Insulin resistance	1/5	OMIM:620639
23187	PHLDB1	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
23187	PHLDB1	HP:0004565	Severe platyspondyly	4/4	OMIM:620639
23187	PHLDB1	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
23187	PHLDB1	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
23187	PHLDB1	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
23187	PHLDB1	HP:0000956	Acanthosis nigricans	3/5	OMIM:620639
23187	PHLDB1	HP:0000939	Osteoporosis	4/5	OMIM:259770
23187	PHLDB1	HP:0000938	Osteopenia	5/5	OMIM:620639
23187	PHLDB1	HP:0000938	Osteopenia	1/5	OMIM:259770
23187	PHLDB1	HP:0000938	Osteopenia	1/1	OMIM:612394
23187	PHLDB1	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
23187	PHLDB1	HP:0000272	Malar flattening	1/1	OMIM:612394
23187	PHLDB1	HP:0007773	Vitreoretinopathy	-	OMIM:259770
23187	PHLDB1	HP:0002827	Hip dislocation	1/5	OMIM:620639
23187	PHLDB1	HP:0002808	Kyphosis	1/5	OMIM:259770
23187	PHLDB1	HP:0000252	Microcephaly	-	OMIM:259770
23187	PHLDB1	HP:0001552	Barrel-shaped chest	-	OMIM:259770
23187	PHLDB1	HP:0002857	Genu valgum	5/5	OMIM:620639
23187	PHLDB1	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
23187	PHLDB1	HP:0012368	Flat face	1/1	OMIM:612394
23187	PHLDB1	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
23187	PHLDB1	HP:0007875	Congenital blindness	4/5	OMIM:259770
23187	PHLDB1	HP:0007862	Retinal calcification	1/5	OMIM:259770
23187	PHLDB1	HP:0000369	Low-set ears	2/2	OMIM:612394
23187	PHLDB1	HP:0002982	Tibial bowing	1/5	OMIM:259770
23187	PHLDB1	HP:0002979	Bowing of the legs	5/5	OMIM:620639
23187	PHLDB1	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
23187	PHLDB1	HP:0001629	Ventricular septal defect	-	OMIM:259770
23187	PHLDB1	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
23187	PHLDB1	HP:0000307	Pointed chin	1/2	OMIM:612394
23187	PHLDB1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
23187	PHLDB1	HP:0000463	Anteverted nares	1/1	OMIM:612394
23187	PHLDB1	HP:0000473	Torticollis	1/5	OMIM:620639
23187	PHLDB1	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
23187	PHLDB1	HP:0000518	Cataract	1/5	OMIM:259770
23187	PHLDB1	HP:0000518	Cataract	1/1	OMIM:612394
23187	PHLDB1	HP:0000592	Blue sclerae	4/5	OMIM:620639
23187	PHLDB1	HP:0000586	Shallow orbits	1/1	OMIM:612394
23187	PHLDB1	HP:0000568	Microphthalmia	1/5	OMIM:259770
23187	PHLDB1	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
23187	PHLDB1	HP:0000545	Myopia	1/1	OMIM:612394
23189	KANK1	HP:0001252	Hypotonia	-	OMIM:612900
23189	KANK1	HP:0001249	Intellectual disability	-	OMIM:612900
23189	KANK1	HP:0002510	Spastic tetraplegia	-	OMIM:612900
23189	KANK1	HP:0002059	Cerebral atrophy	-	OMIM:612900
23189	KANK1	HP:0002119	Ventriculomegaly	-	OMIM:612900
23189	KANK1	HP:0003577	Congenital onset	-	OMIM:612900
23189	KANK1	HP:0000639	Nystagmus	-	OMIM:612900
23189	KANK1	HP:0100021	Cerebral palsy	-	OMIM:612900
23189	KANK1	HP:0012275	Autosomal dominant inheritance with maternal imprinting	-	OMIM:612900
23193	GANAB	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:730
23193	GANAB	HP:0008672	Calcium oxalate nephrolithiasis	HP:0040283	ORPHA:730
23193	GANAB	HP:0000083	Renal insufficiency	HP:0040281	ORPHA:730
23193	GANAB	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:730
23193	GANAB	HP:0000006	Autosomal dominant inheritance	-	OMIM:600666
23193	GANAB	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:730
23193	GANAB	HP:0000113	Polycystic kidney dysplasia	18/18	OMIM:600666
23193	GANAB	HP:0000107	Renal cyst	HP:0040281	ORPHA:730
23193	GANAB	HP:0000105	Enlarged kidney	HP:0040283	ORPHA:730
23193	GANAB	HP:0001410	Decreased liver function	HP:0040283	OMIM:600666
23193	GANAB	HP:0001407	Hepatic cysts	HP:0040281	ORPHA:730
23193	GANAB	HP:0001407	Hepatic cysts	15/19	OMIM:600666
23193	GANAB	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040284	ORPHA:730
23193	GANAB	HP:0003596	Middle age onset	14/20	OMIM:600666
23193	GANAB	HP:0100702	Arachnoid cyst	HP:0040283	ORPHA:730
23193	GANAB	HP:0003584	Late onset	2/20	OMIM:600666
23193	GANAB	HP:0003621	Juvenile onset	2/20	OMIM:600666
23193	GANAB	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:730
23193	GANAB	HP:0004944	Dilatation of the cerebral artery	2/20	OMIM:600666
23193	GANAB	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:730
23193	GANAB	HP:0011462	Young adult onset	2/20	OMIM:600666
23193	GANAB	HP:0000791	Uric acid nephrolithiasis	HP:0040283	ORPHA:730
23193	GANAB	HP:0000790	Hematuria	HP:0040282	ORPHA:730
23193	GANAB	HP:0000822	Hypertension	6/18	OMIM:600666
23193	GANAB	HP:0000822	Hypertension	HP:0040282	ORPHA:730
23193	GANAB	HP:0003259	Elevated circulating creatinine concentration	HP:0040281	ORPHA:730
23193	GANAB	HP:0012213	Decreased glomerular filtration rate	HP:0040281	ORPHA:730
23193	GANAB	HP:0012207	Reduced sperm motility	HP:0040283	ORPHA:730
23193	GANAB	HP:0006557	Polycystic liver disease	HP:0040283	ORPHA:730
23193	GANAB	HP:0011004	Abnormal systemic arterial morphology	HP:0040283	ORPHA:730
23193	GANAB	HP:0012330	Pyelonephritis	HP:0040283	ORPHA:730
23193	GANAB	HP:0030157	Flank pain	HP:0040282	ORPHA:730
23193	GANAB	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:730
23193	GANAB	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:730
23193	GANAB	HP:0012591	Abnormal urinary electrolyte concentration	HP:0040282	ORPHA:730
23193	GANAB	HP:0012592	Albuminuria	HP:0040282	ORPHA:730
23194	FBXL7	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
23194	FBXL7	HP:0002619	Varicose veins	-	OMIM:153400
23194	FBXL7	HP:0000175	Cleft palate	5/39	OMIM:153400
23194	FBXL7	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
23194	FBXL7	HP:0009743	Distichiasis	42/42	OMIM:153400
23194	FBXL7	HP:0001004	Lymphedema	-	OMIM:153400
23194	FBXL7	HP:0100658	Cellulitis	2/6	OMIM:153400
23194	FBXL7	HP:0000613	Photophobia	10/49	OMIM:153400
23194	FBXL7	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
23194	FBXL7	HP:0000656	Ectropion	2/43	OMIM:153400
23194	FBXL7	HP:0003011	Abnormality of the musculature	-	OMIM:153400
23194	FBXL7	HP:0012804	Corneal ulceration	-	OMIM:153400
23194	FBXL7	HP:0010310	Chylothorax	1/6	OMIM:153400
23194	FBXL7	HP:0011675	Arrhythmia	-	OMIM:153400
23194	FBXL7	HP:0002808	Kyphosis	2/5	OMIM:153400
23194	FBXL7	HP:0000204	Cleft upper lip	-	OMIM:153400
23194	FBXL7	HP:0000347	Micrognathia	2/5	OMIM:153400
23194	FBXL7	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
23194	FBXL7	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
23194	FBXL7	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
23194	FBXL7	HP:0000476	Cystic hygroma	2/43	OMIM:153400
23194	FBXL7	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
23194	FBXL7	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
23194	FBXL7	HP:0000465	Webbed neck	6/43	OMIM:153400
23194	FBXL7	HP:0000509	Conjunctivitis	-	OMIM:153400
23194	FBXL7	HP:0000508	Ptosis	2/39	OMIM:153400
23194	FBXL7	HP:0000568	Microphthalmia	1/6	OMIM:153400
23203	PMPCA	HP:0001152	Saccadic smooth pursuit	-	OMIM:213200
23203	PMPCA	HP:0007272	Progressive psychomotor deterioration	HP:0040282	ORPHA:1170
23203	PMPCA	HP:0001290	Generalized hypotonia	-	OMIM:213200
23203	PMPCA	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:1170
23203	PMPCA	HP:0001252	Hypotonia	-	OMIM:213200
23203	PMPCA	HP:0001252	Hypotonia	HP:0040282	ORPHA:1170
23203	PMPCA	HP:0001251	Ataxia	-	OMIM:213200
23203	PMPCA	HP:0001251	Ataxia	HP:0040281	ORPHA:1170
23203	PMPCA	HP:0001249	Intellectual disability	15/17	OMIM:213200
23203	PMPCA	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1170
23203	PMPCA	HP:0001265	Hyporeflexia	HP:0040283	OMIM:213200
23203	PMPCA	HP:0001260	Dysarthria	17/17	OMIM:213200
23203	PMPCA	HP:0001260	Dysarthria	HP:0040281	ORPHA:1170
23203	PMPCA	HP:0001263	Global developmental delay	-	OMIM:213200
23203	PMPCA	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1170
23203	PMPCA	HP:0001257	Spasticity	-	OMIM:213200
23203	PMPCA	HP:0001257	Spasticity	HP:0040283	ORPHA:1170
23203	PMPCA	HP:0002506	Diffuse cerebral atrophy	HP:0040282	ORPHA:1170
23203	PMPCA	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:1170
23203	PMPCA	HP:0001347	Hyperreflexia	11/16	OMIM:213200
23203	PMPCA	HP:0001324	Muscle weakness	HP:0040282	ORPHA:1170
23203	PMPCA	HP:0000007	Autosomal recessive inheritance	-	OMIM:213200
23203	PMPCA	HP:0001337	Tremor	-	OMIM:213200
23203	PMPCA	HP:0001337	Tremor	HP:0040283	ORPHA:1170
23203	PMPCA	HP:0001310	Dysmetria	HP:0040281	ORPHA:1170
23203	PMPCA	HP:0001310	Dysmetria	17/17	OMIM:213200
23203	PMPCA	HP:0001321	Cerebellar hypoplasia	-	OMIM:213200
23203	PMPCA	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:1170
23203	PMPCA	HP:0002066	Gait ataxia	HP:0040281	ORPHA:1170
23203	PMPCA	HP:0002066	Gait ataxia	17/17	OMIM:213200
23203	PMPCA	HP:0002070	Limb ataxia	-	OMIM:213200
23203	PMPCA	HP:0002198	Dilated fourth ventricle	-	OMIM:213200
23203	PMPCA	HP:0002198	Dilated fourth ventricle	HP:0040283	ORPHA:1170
23203	PMPCA	HP:0002171	Gliosis	-	OMIM:213200
23203	PMPCA	HP:0003593	Infantile onset	27/27	OMIM:213200
23203	PMPCA	HP:0002275	Poor motor coordination	HP:0040282	ORPHA:1170
23203	PMPCA	HP:0002280	Enlarged cisterna magna	HP:0040283	ORPHA:1170
23203	PMPCA	HP:0003680	Nonprogressive	-	OMIM:213200
23203	PMPCA	HP:0002317	Unsteady gait	-	OMIM:213200
23203	PMPCA	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:1170
23203	PMPCA	HP:0010794	Impaired visuospatial constructive cognition	HP:0040283	ORPHA:1170
23203	PMPCA	HP:0002311	Incoordination	-	OMIM:213200
23203	PMPCA	HP:0006855	Cerebellar vermis atrophy	-	OMIM:213200
23203	PMPCA	HP:0006855	Cerebellar vermis atrophy	HP:0040282	ORPHA:1170
23203	PMPCA	HP:0000640	Gaze-evoked nystagmus	17/17	OMIM:213200
23203	PMPCA	HP:0000640	Gaze-evoked nystagmus	HP:0040281	ORPHA:1170
23203	PMPCA	HP:0000639	Nystagmus	HP:0040283	OMIM:213200
23203	PMPCA	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:1170
23203	PMPCA	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:1170
23203	PMPCA	HP:0004322	Short stature	HP:0040283	OMIM:213200
23203	PMPCA	HP:0004322	Short stature	HP:0040283	ORPHA:1170
23203	PMPCA	HP:0031936	Delayed ability to walk	HP:0040281	ORPHA:1170
23203	PMPCA	HP:0031936	Delayed ability to walk	16/16	OMIM:213200
23203	PMPCA	HP:0000750	Delayed speech and language development	14/16	OMIM:213200
23203	PMPCA	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:1170
23203	PMPCA	HP:0003128	Lactic acidosis	HP:0040283	ORPHA:1170
23203	PMPCA	HP:0001763	Pes planus	HP:0040282	ORPHA:1170
23203	PMPCA	HP:0001761	Pes cavus	HP:0040283	OMIM:213200
23204	ARL6IP1	HP:0001271	Polyneuropathy	HP:0040282	ORPHA:401780
23204	ARL6IP1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:401780
23204	ARL6IP1	HP:0001249	Intellectual disability	0/2	OMIM:615685
23204	ARL6IP1	HP:0001258	Spastic paraplegia	-	OMIM:615685
23204	ARL6IP1	HP:0001257	Spasticity	HP:0040282	ORPHA:401780
23204	ARL6IP1	HP:0001257	Spasticity	2/2	OMIM:615685
23204	ARL6IP1	HP:0002540	Inability to walk	2/2	OMIM:615685
23204	ARL6IP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615685
23204	ARL6IP1	HP:0003438	Absent Achilles reflex	2/2	OMIM:615685
23204	ARL6IP1	HP:0007083	Hyperactive patellar reflex	2/2	OMIM:615685
23204	ARL6IP1	HP:0007083	Hyperactive patellar reflex	HP:0040282	ORPHA:401780
23204	ARL6IP1	HP:0007178	Motor polyneuropathy	2/2	OMIM:615685
23204	ARL6IP1	HP:0007178	Motor polyneuropathy	HP:0040282	ORPHA:401780
23204	ARL6IP1	HP:0000763	Sensory neuropathy	2/2	OMIM:615685
23204	ARL6IP1	HP:0011463	Childhood onset	2/2	OMIM:615685
23204	ARL6IP1	HP:0005109	Abnormality of the Achilles tendon	HP:0040282	ORPHA:401780
23204	ARL6IP1	HP:0002815	Abnormality of the knee	HP:0040282	ORPHA:401780
23204	ARL6IP1	HP:0012407	Scissor gait	2/2	OMIM:615685
23204	ARL6IP1	HP:0012407	Scissor gait	HP:0040282	ORPHA:401780
23209	MLC1	HP:0001270	Motor delay	-	OMIM:604004
23209	MLC1	HP:0001268	Mental deterioration	HP:0040282	ORPHA:2478
23209	MLC1	HP:0001256	Intellectual disability, mild	-	OMIM:604004
23209	MLC1	HP:0001250	Seizure	HP:0040282	ORPHA:2478
23209	MLC1	HP:0001250	Seizure	1/1	OMIM:604004
23209	MLC1	HP:0001251	Ataxia	HP:0040282	ORPHA:2478
23209	MLC1	HP:0001251	Ataxia	-	OMIM:604004
23209	MLC1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2478
23209	MLC1	HP:0001257	Spasticity	HP:0040282	ORPHA:2478
23209	MLC1	HP:0001257	Spasticity	-	OMIM:604004
23209	MLC1	HP:0007341	Diffuse swelling of cerebral white matter	HP:0040282	ORPHA:2478
23209	MLC1	HP:0007341	Diffuse swelling of cerebral white matter	-	OMIM:604004
23209	MLC1	HP:0001355	Megalencephaly	1/1	OMIM:604004
23209	MLC1	HP:0001332	Dystonia	HP:0040283	ORPHA:2478
23209	MLC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:604004
23209	MLC1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:2478
23209	MLC1	HP:0002133	Status epilepticus	HP:0040283	ORPHA:2478
23209	MLC1	HP:0003593	Infantile onset	1/1	OMIM:604004
23209	MLC1	HP:0002317	Unsteady gait	HP:0040282	ORPHA:2478
23209	MLC1	HP:0002333	Motor deterioration	HP:0040282	ORPHA:2478
23209	MLC1	HP:6000461	Cerebral subcortical cyst	HP:0040282	ORPHA:2478
23209	MLC1	HP:0002312	Clumsiness	HP:0040283	ORPHA:2478
23209	MLC1	HP:0002305	Athetosis	HP:0040283	ORPHA:2478
23209	MLC1	HP:0006943	Diffuse spongiform leukoencephalopathy	-	OMIM:604004
23209	MLC1	HP:0000717	Autism	HP:0040283	ORPHA:2478
23209	MLC1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2478
23209	MLC1	HP:0012762	Cerebral white matter atrophy	HP:0040283	ORPHA:2478
23209	MLC1	HP:0000256	Macrocephaly	1/1	OMIM:604004
23209	MLC1	HP:0005490	Postnatal macrocephaly	HP:0040282	ORPHA:2478
23213	SULF1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
23213	SULF1	HP:0001293	Cranial nerve compression	-	OMIM:131300
23213	SULF1	HP:0001252	Hypotonia	2/7	OMIM:615777
23213	SULF1	HP:0001249	Intellectual disability	5/7	OMIM:615777
23213	SULF1	HP:0001263	Global developmental delay	-	OMIM:615777
23213	SULF1	HP:0002515	Waddling gait	54/102	OMIM:131300
23213	SULF1	HP:0001382	Joint hypermobility	-	OMIM:615777
23213	SULF1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
23213	SULF1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
23213	SULF1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
23213	SULF1	HP:0001324	Muscle weakness	40/96	OMIM:131300
23213	SULF1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
23213	SULF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
23213	SULF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
23213	SULF1	HP:0002650	Scoliosis	12/14	OMIM:131300
23213	SULF1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
23213	SULF1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
23213	SULF1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
23213	SULF1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
23213	SULF1	HP:0000175	Cleft palate	2/7	OMIM:615777
23213	SULF1	HP:0003388	Easy fatigability	36/76	OMIM:131300
23213	SULF1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
23213	SULF1	HP:0003510	Severe short stature	7/7	OMIM:615777
23213	SULF1	HP:0002315	Headache	-	OMIM:131300
23213	SULF1	HP:0004976	Knee dislocation	6/7	OMIM:615777
23213	SULF1	HP:0009803	Short phalanx of finger	-	OMIM:615777
23213	SULF1	HP:0009763	Limb pain	63/92	OMIM:131300
23213	SULF1	HP:0003621	Juvenile onset	-	OMIM:131300
23213	SULF1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
23213	SULF1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
23213	SULF1	HP:6001056	Out-toeing	-	OMIM:131300
23213	SULF1	HP:0000651	Diplopia	-	OMIM:131300
23213	SULF1	HP:0001956	Truncal obesity	2/7	OMIM:615777
23213	SULF1	HP:0001903	Anemia	HP:0040283	OMIM:131300
23213	SULF1	HP:0010049	Short metacarpal	-	OMIM:615777
23213	SULF1	HP:0000678	Dental crowding	-	OMIM:615777
23213	SULF1	HP:0000670	Carious teeth	-	OMIM:131300
23213	SULF1	HP:0011304	Broad thumb	2/7	OMIM:615777
23213	SULF1	HP:0000668	Hypodontia	-	OMIM:615777
23213	SULF1	HP:0000664	Synophrys	-	OMIM:615777
23213	SULF1	HP:0004396	Poor appetite	-	OMIM:131300
23213	SULF1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
23213	SULF1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
23213	SULF1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
23213	SULF1	HP:0003026	Short long bone	7/7	OMIM:615777
23213	SULF1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
23213	SULF1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
23213	SULF1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
23213	SULF1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
23213	SULF1	HP:0000750	Delayed speech and language development	-	OMIM:615777
23213	SULF1	HP:0011461	Fetal onset	7/7	OMIM:615777
23213	SULF1	HP:0000774	Narrow chest	2/7	OMIM:615777
23213	SULF1	HP:0000926	Platyspondyly	1/7	OMIM:615777
23213	SULF1	HP:0003180	Flat acetabular roof	-	OMIM:615777
23213	SULF1	HP:0004482	Relative macrocephaly	-	OMIM:615777
23213	SULF1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
23213	SULF1	HP:0000823	Delayed puberty	-	OMIM:131300
23213	SULF1	HP:0000894	Short clavicles	-	OMIM:615777
23213	SULF1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
23213	SULF1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
23213	SULF1	HP:0000286	Epicanthus	1/7	OMIM:615777
23213	SULF1	HP:0000280	Coarse facial features	2/7	OMIM:615777
23213	SULF1	HP:0002827	Hip dislocation	3/7	OMIM:615777
23213	SULF1	HP:0000252	Microcephaly	-	OMIM:615777
23213	SULF1	HP:0002857	Genu valgum	-	OMIM:131300
23213	SULF1	HP:0001533	Slender build	-	OMIM:131300
23213	SULF1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
23213	SULF1	HP:0007807	Optic nerve compression	-	OMIM:131300
23213	SULF1	HP:0012368	Flat face	7/7	OMIM:615777
23213	SULF1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
23213	SULF1	HP:0000365	Hearing impairment	10/67	OMIM:131300
23213	SULF1	HP:0000343	Long philtrum	1/7	OMIM:615777
23213	SULF1	HP:0011001	Increased bone mineral density	-	OMIM:131300
23213	SULF1	HP:0000311	Round face	2/7	OMIM:615777
23213	SULF1	HP:0002970	Genu varum	-	OMIM:615777
23213	SULF1	HP:0000303	Mandibular prognathia	-	OMIM:131300
23213	SULF1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
23213	SULF1	HP:0000470	Short neck	1/7	OMIM:615777
23213	SULF1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
23213	SULF1	HP:0001763	Pes planus	1/7	OMIM:615777
23213	SULF1	HP:0001840	Metatarsus adductus	-	OMIM:615777
23213	SULF1	HP:0000520	Proptosis	2/4	OMIM:131300
23213	SULF1	HP:0000520	Proptosis	7/7	OMIM:615777
23213	SULF1	HP:0000592	Blue sclerae	2/7	OMIM:615777
23213	SULF1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
23213	SULF1	HP:0012514	Lower limb pain	4/4	OMIM:131300
23218	NBEAL2	HP:0000007	Autosomal recessive inheritance	-	OMIM:139090
23218	NBEAL2	HP:0012147	Reduced quantity of Von Willebrand factor	-	OMIM:139090
23218	NBEAL2	HP:0000140	Abnormality of the menstrual cycle	HP:0040282	ORPHA:721
23218	NBEAL2	HP:0000132	Menorrhagia	-	OMIM:139090
23218	NBEAL2	HP:0011872	Impaired thrombin-induced platelet aggregation	-	OMIM:139090
23218	NBEAL2	HP:0011974	Myelofibrosis	-	OMIM:139090
23218	NBEAL2	HP:0008330	Reduced von Willebrand factor activity	-	OMIM:139090
23218	NBEAL2	HP:0008320	Impaired collagen-induced platelet aggregation	-	OMIM:139090
23218	NBEAL2	HP:0003676	Progressive	-	OMIM:139090
23218	NBEAL2	HP:0003010	Prolonged bleeding time	-	OMIM:139090
23218	NBEAL2	HP:0000978	Bruising susceptibility	-	OMIM:139090
23218	NBEAL2	HP:0000978	Bruising susceptibility	HP:0040281	ORPHA:721
23218	NBEAL2	HP:0002863	Myelodysplasia	HP:0040282	ORPHA:721
23218	NBEAL2	HP:0001744	Splenomegaly	-	OMIM:139090
23218	NBEAL2	HP:0001744	Splenomegaly	HP:0040282	ORPHA:721
23218	NBEAL2	HP:0000421	Epistaxis	-	OMIM:139090
23218	NBEAL2	HP:0000421	Epistaxis	HP:0040282	ORPHA:721
23218	NBEAL2	HP:0001892	Abnormal bleeding	-	OMIM:139090
23218	NBEAL2	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:721
23218	NBEAL2	HP:0001872	Abnormality of thrombocytes	HP:0040281	ORPHA:721
23218	NBEAL2	HP:0012528	Abnormal number of alpha granules	-	OMIM:139090
23218	NBEAL2	HP:0001873	Thrombocytopenia	-	OMIM:139090
23218	NBEAL2	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:721
23219	FBXO28	HP:0001156	Brachydactyly	1/1	OMIM:619777
23219	FBXO28	HP:0010852	EEG with photoparoxysmal response	1/1	OMIM:619777
23219	FBXO28	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
23219	FBXO28	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
23219	FBXO28	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0001284	Areflexia	3/10	OMIM:619777
23219	FBXO28	HP:0001250	Seizure	HP:0040282	ORPHA:442835
23219	FBXO28	HP:0001250	Seizure	1/1	OMIM:619777
23219	FBXO28	HP:0001252	Hypotonia	1/1	OMIM:619777
23219	FBXO28	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
23219	FBXO28	HP:0001249	Intellectual disability	9/9	OMIM:619777
23219	FBXO28	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
23219	FBXO28	HP:0001265	Hyporeflexia	1/9	OMIM:619777
23219	FBXO28	HP:0001266	Choreoathetosis	1/9	OMIM:619777
23219	FBXO28	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
23219	FBXO28	HP:0001263	Global developmental delay	10/10	OMIM:619777
23219	FBXO28	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0031045	Acral blistering	1/1	OMIM:619777
23219	FBXO28	HP:0007359	Focal-onset seizure	1/9	OMIM:619777
23219	FBXO28	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
23219	FBXO28	HP:0033725	Thin corpus callosum	1/9	OMIM:619777
23219	FBXO28	HP:0001337	Tremor	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0000006	Autosomal dominant inheritance	-	OMIM:619777
23219	FBXO28	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0001336	Myoclonus	4/10	OMIM:619777
23219	FBXO28	HP:0001302	Pachygyria	1/9	OMIM:619777
23219	FBXO28	HP:0002650	Scoliosis	1/1	OMIM:619777
23219	FBXO28	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0008936	Axial hypotonia	5/9	OMIM:619777
23219	FBXO28	HP:0006297	Enamel hypoplasia	1/1	OMIM:619777
23219	FBXO28	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0002020	Gastroesophageal reflux	1/1	OMIM:619777
23219	FBXO28	HP:0002015	Dysphagia	4/10	OMIM:619777
23219	FBXO28	HP:0002069	Bilateral tonic-clonic seizure	3/9	OMIM:619777
23219	FBXO28	HP:0002066	Gait ataxia	1/9	OMIM:619777
23219	FBXO28	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0002072	Chorea	1/9	OMIM:619777
23219	FBXO28	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0002059	Cerebral atrophy	3/9	OMIM:619777
23219	FBXO28	HP:0002119	Ventriculomegaly	1/1	OMIM:619777
23219	FBXO28	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
23219	FBXO28	HP:0002126	Polymicrogyria	1/9	OMIM:619777
23219	FBXO28	HP:0002188	Delayed CNS myelination	2/9	OMIM:619777
23219	FBXO28	HP:0010536	Central sleep apnea	1/1	OMIM:619777
23219	FBXO28	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0002205	Recurrent respiratory infections	2/9	OMIM:619777
23219	FBXO28	HP:0002280	Enlarged cisterna magna	1/9	OMIM:619777
23219	FBXO28	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0001028	Hemangioma	1/1	OMIM:619777
23219	FBXO28	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
23219	FBXO28	HP:0002376	Developmental regression	5/9	OMIM:619777
23219	FBXO28	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2/9	OMIM:619777
23219	FBXO28	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
23219	FBXO28	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0100660	Dyskinesia	1/9	OMIM:619777
23219	FBXO28	HP:0010804	Tented upper lip vermilion	1/1	OMIM:619777
23219	FBXO28	HP:0010808	Protruding tongue	1/9	OMIM:619777
23219	FBXO28	HP:0200055	Small hand	1/1	OMIM:619777
23219	FBXO28	HP:0002307	Drooling	4/9	OMIM:619777
23219	FBXO28	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
23219	FBXO28	HP:0000691	Microdontia	1/1	OMIM:619777
23219	FBXO28	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0000664	Synophrys	1/1	OMIM:619777
23219	FBXO28	HP:0004322	Short stature	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0005619	Thoracolumbar kyphosis	1/1	OMIM:619777
23219	FBXO28	HP:0005617	Bilateral camptodactyly	1/1	OMIM:619777
23219	FBXO28	HP:0012745	Short palpebral fissure	1/1	OMIM:619777
23219	FBXO28	HP:0000733	Motor stereotypy	2/9	OMIM:619777
23219	FBXO28	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
23219	FBXO28	HP:0012708	Reduced brain N-acetyl aspartate level by MRS	1/9	OMIM:619777
23219	FBXO28	HP:0000717	Autism	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
23219	FBXO28	HP:0000954	Single transverse palmar crease	1/1	OMIM:619777
23219	FBXO28	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0000218	High palate	1/1	OMIM:619777
23219	FBXO28	HP:0000212	Gingival overgrowth	1/1	OMIM:619777
23219	FBXO28	HP:0032667	Myoclonic status epilepticus	1/9	OMIM:619777
23219	FBXO28	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0001558	Decreased fetal movement	1/1	OMIM:619777
23219	FBXO28	HP:0002870	Obstructive sleep apnea	1/1	OMIM:619777
23219	FBXO28	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
23219	FBXO28	HP:0002835	Aspiration	1/1	OMIM:619777
23219	FBXO28	HP:0012389	Appendicular hypotonia	3/9	OMIM:619777
23219	FBXO28	HP:0032792	Tonic seizure	4/9	OMIM:619777
23219	FBXO28	HP:0000348	High forehead	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0000347	Micrognathia	1/1	OMIM:619777
23219	FBXO28	HP:0032794	Myoclonic seizure	2/10	OMIM:619777
23219	FBXO28	HP:0002987	Elbow flexion contracture	1/1	OMIM:619777
23219	FBXO28	HP:0011147	Typical absence seizure	1/1	OMIM:619777
23219	FBXO28	HP:0005280	Depressed nasal bridge	1/1	OMIM:619777
23219	FBXO28	HP:0000486	Strabismus	1/1	OMIM:619777
23219	FBXO28	HP:0012469	Infantile spasms	3/9	OMIM:619777
23219	FBXO28	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0012444	Brain atrophy	1/1	OMIM:619777
23219	FBXO28	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0012450	Chronic constipation	1/1	OMIM:619777
23219	FBXO28	HP:0000455	Broad nasal tip	1/1	OMIM:619777
23219	FBXO28	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
23219	FBXO28	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
23219	FBXO28	HP:0001804	Hypoplastic fingernail	1/1	OMIM:619777
23219	FBXO28	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
23219	FBXO28	HP:0000565	Esotropia	1/1	OMIM:619777
23219	FBXO28	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
23219	FBXO28	HP:0000549	Abnormal conjugate eye movement	1/1	OMIM:619777
23221	RHOBTB2	HP:0002483	Bulbar signs	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0003763	Bruxism	1/10	OMIM:618004
23221	RHOBTB2	HP:0001269	Hemiparesis	1/10	OMIM:618004
23221	RHOBTB2	HP:0001284	Areflexia	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0001250	Seizure	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0001250	Seizure	10/10	OMIM:618004
23221	RHOBTB2	HP:0001252	Hypotonia	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0001252	Hypotonia	9/10	OMIM:618004
23221	RHOBTB2	HP:0001251	Ataxia	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0002579	Gastrointestinal dysmotility	HP:0040281	ORPHA:2131
23221	RHOBTB2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0001249	Intellectual disability	10/10	OMIM:618004
23221	RHOBTB2	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0001260	Dysarthria	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0001263	Global developmental delay	10/10	OMIM:618004
23221	RHOBTB2	HP:0410263	Brain imaging abnormality	-	ORPHA:2131
23221	RHOBTB2	HP:0002540	Inability to walk	5/10	OMIM:618004
23221	RHOBTB2	HP:0002553	Highly arched eyebrow	1/10	OMIM:618004
23221	RHOBTB2	HP:0002509	Limb hypertonia	4/10	OMIM:618004
23221	RHOBTB2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0001332	Dystonia	3/10	OMIM:618004
23221	RHOBTB2	HP:0001332	Dystonia	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0001344	Absent speech	7/10	OMIM:618004
23221	RHOBTB2	HP:0001337	Tremor	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618004
23221	RHOBTB2	HP:0001321	Cerebellar hypoplasia	1/10	OMIM:618004
23221	RHOBTB2	HP:0012194	Episodic hemiplegia	HP:0040281	ORPHA:2131
23221	RHOBTB2	HP:0000179	Thick lower lip vermilion	1/10	OMIM:618004
23221	RHOBTB2	HP:0031284	Flushing	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0002019	Constipation	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0002014	Diarrhea	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0002015	Dysphagia	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0002013	Vomiting	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0002098	Respiratory distress	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0002063	Rigidity	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0002079	Hypoplasia of the corpus callosum	1/10	OMIM:618004
23221	RHOBTB2	HP:0002072	Chorea	2/10	OMIM:618004
23221	RHOBTB2	HP:0002072	Chorea	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0002039	Anorexia	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0002120	Cerebral cortical atrophy	1/10	OMIM:618004
23221	RHOBTB2	HP:0002119	Ventriculomegaly	1/10	OMIM:618004
23221	RHOBTB2	HP:0002133	Status epilepticus	4/10	OMIM:618004
23221	RHOBTB2	HP:0002133	Status epilepticus	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0002104	Apnea	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0002188	Delayed CNS myelination	1/10	OMIM:618004
23221	RHOBTB2	HP:0002268	Paroxysmal dystonia	4/10	OMIM:618004
23221	RHOBTB2	HP:0002263	Exaggerated cupid's bow	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0003593	Infantile onset	7/10	OMIM:618004
23221	RHOBTB2	HP:0002273	Tetraparesis	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0100710	Impulsivity	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0100716	Self-injurious behavior	2/10	OMIM:618004
23221	RHOBTB2	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0002376	Developmental regression	5/10	OMIM:618004
23221	RHOBTB2	HP:0002344	Progressive neurologic deterioration	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0002353	EEG abnormality	-	ORPHA:2131
23221	RHOBTB2	HP:0002315	Headache	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0007166	Paroxysmal dyskinesia	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0010763	Low insertion of columella	1/10	OMIM:618004
23221	RHOBTB2	HP:0003623	Neonatal onset	2/10	OMIM:618004
23221	RHOBTB2	HP:0000639	Nystagmus	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0001944	Dehydration	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0000687	Widely spaced teeth	1/10	OMIM:618004
23221	RHOBTB2	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0031931	Ocular flutter	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0000733	Motor stereotypy	3/10	OMIM:618004
23221	RHOBTB2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0000712	Emotional lability	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0011499	Mydriasis	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0011463	Childhood onset	1/10	OMIM:618004
23221	RHOBTB2	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0003270	Abdominal distention	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0045075	Sparse eyebrow	1/10	OMIM:618004
23221	RHOBTB2	HP:0045074	Thin eyebrow	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0000980	Pallor	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0011675	Arrhythmia	HP:0040284	ORPHA:2131
23221	RHOBTB2	HP:0000286	Epicanthus	2/10	OMIM:618004
23221	RHOBTB2	HP:0000297	Facial hypotonia	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0000294	Low anterior hairline	1/10	OMIM:618004
23221	RHOBTB2	HP:0000268	Dolichocephaly	1/10	OMIM:618004
23221	RHOBTB2	HP:0005135	Abnormal T-wave	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0032649	Skewfoot	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0000252	Microcephaly	6/10	OMIM:618004
23221	RHOBTB2	HP:0000219	Thin upper lip vermilion	1/10	OMIM:618004
23221	RHOBTB2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0002835	Aspiration	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040281	ORPHA:2131
23221	RHOBTB2	HP:0000343	Long philtrum	1/10	OMIM:618004
23221	RHOBTB2	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0000348	High forehead	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0000347	Micrognathia	1/10	OMIM:618004
23221	RHOBTB2	HP:0000319	Smooth philtrum	1/10	OMIM:618004
23221	RHOBTB2	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:2131
23221	RHOBTB2	HP:0011153	Focal motor seizure	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0000400	Macrotia	2/10	OMIM:618004
23221	RHOBTB2	HP:0005280	Depressed nasal bridge	2/10	OMIM:618004
23221	RHOBTB2	HP:0031546	Cardiac conduction abnormality	HP:0040283	ORPHA:2131
23221	RHOBTB2	HP:0000490	Deeply set eye	2/10	OMIM:618004
23221	RHOBTB2	HP:0000463	Anteverted nares	1/10	OMIM:618004
23221	RHOBTB2	HP:0000455	Broad nasal tip	1/10	OMIM:618004
23221	RHOBTB2	HP:0000527	Long eyelashes	1/10	OMIM:618004
23221	RHOBTB2	HP:0000577	Exotropia	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:2131
23221	RHOBTB2	HP:0000574	Thick eyebrow	2/10	OMIM:618004
23221	RHOBTB2	HP:0000565	Esotropia	HP:0040282	ORPHA:2131
23224	SYNE2	HP:0002486	Myotonia	HP:0040281	ORPHA:98853
23224	SYNE2	HP:0003701	Proximal muscle weakness	-	OMIM:612999
23224	SYNE2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0001252	Hypotonia	HP:0040283	ORPHA:98853
23224	SYNE2	HP:0001249	Intellectual disability	-	ORPHA:98853
23224	SYNE2	HP:0002515	Waddling gait	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0003805	Rimmed vacuoles	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0001387	Joint stiffness	HP:0040281	ORPHA:98853
23224	SYNE2	HP:0000006	Autosomal dominant inheritance	-	OMIM:612999
23224	SYNE2	HP:0002650	Scoliosis	HP:0040283	ORPHA:98853
23224	SYNE2	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:98853
23224	SYNE2	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0008948	Proximal upper limb amyotrophy	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0008956	Proximal lower limb amyotrophy	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040284	ORPHA:98853
23224	SYNE2	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:98853
23224	SYNE2	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0011807	Type 1 muscle fiber atrophy	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0002093	Respiratory insufficiency	1/1	OMIM:612999
23224	SYNE2	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0003418	Back pain	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0003560	Muscular dystrophy	-	OMIM:612999
23224	SYNE2	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:612999
23224	SYNE2	HP:0003691	Scapular winging	1/1	OMIM:612999
23224	SYNE2	HP:0003691	Scapular winging	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0003687	Centrally nucleated skeletal muscle fibers	1/1	OMIM:612999
23224	SYNE2	HP:0007126	Proximal amyotrophy	-	OMIM:612999
23224	SYNE2	HP:0003621	Juvenile onset	1/1	OMIM:612999
23224	SYNE2	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:98853
23224	SYNE2	HP:0011463	Childhood onset	-	OMIM:612999
23224	SYNE2	HP:0009125	Lipodystrophy	HP:0040283	ORPHA:98853
23224	SYNE2	HP:0003198	Myopathy	HP:0040281	ORPHA:98853
23224	SYNE2	HP:0003198	Myopathy	1/1	OMIM:612999
23224	SYNE2	HP:0000912	Sprengel anomaly	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0003141	Increased LDL cholesterol concentration	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:612999
23224	SYNE2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:98853
23224	SYNE2	HP:0008064	Ichthyosis	HP:0040283	ORPHA:98853
23224	SYNE2	HP:0011675	Arrhythmia	-	OMIM:612999
23224	SYNE2	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:98853
23224	SYNE2	HP:0002808	Kyphosis	HP:0040283	ORPHA:98853
23224	SYNE2	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0001513	Obesity	HP:0040283	ORPHA:98853
23224	SYNE2	HP:0001605	Vocal cord paralysis	HP:0040284	ORPHA:98853
23224	SYNE2	HP:0005155	Ventricular escape rhythm	HP:0040284	ORPHA:98853
23224	SYNE2	HP:0030117	Absent muscle fiber emerin	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0001678	Atrioventricular block	HP:0040283	ORPHA:98853
23224	SYNE2	HP:0001645	Sudden cardiac death	HP:0040284	ORPHA:98853
23224	SYNE2	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:98853
23224	SYNE2	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:98853
23224	SYNE2	HP:0001638	Cardiomyopathy	-	OMIM:612999
23224	SYNE2	HP:0001771	Achilles tendon contracture	HP:0040282	ORPHA:98853
23224	SYNE2	HP:0006785	Limb-girdle muscular dystrophy	HP:0040281	ORPHA:98853
23224	SYNE2	HP:0000508	Ptosis	HP:0040283	ORPHA:98853
23229	ARHGEF9	HP:0010864	Intellectual disability, severe	1/1	OMIM:300607
23229	ARHGEF9	HP:0001276	Hypertonia	HP:0040282	ORPHA:163985
23229	ARHGEF9	HP:0001276	Hypertonia	1/1	OMIM:300607
23229	ARHGEF9	HP:0001263	Global developmental delay	3/3	OMIM:300607
23229	ARHGEF9	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:163985
23229	ARHGEF9	HP:0007333	Hypoplasia of the frontal lobes	1/2	OMIM:300607
23229	ARHGEF9	HP:0003819	Death in childhood	1/1	OMIM:300607
23229	ARHGEF9	HP:0012018	EEG with temporal focal spikes	HP:0040282	ORPHA:163985
23229	ARHGEF9	HP:0001419	X-linked recessive inheritance	-	OMIM:300607
23229	ARHGEF9	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:300607
23229	ARHGEF9	HP:0002267	Exaggerated startle response	HP:0040282	ORPHA:163985
23229	ARHGEF9	HP:0002267	Exaggerated startle response	1/1	OMIM:300607
23229	ARHGEF9	HP:0003593	Infantile onset	1/2	OMIM:300607
23229	ARHGEF9	HP:0003577	Congenital onset	1/1	OMIM:300607
23229	ARHGEF9	HP:0200134	Epileptic encephalopathy	HP:0040282	ORPHA:163985
23229	ARHGEF9	HP:0200134	Epileptic encephalopathy	1/1	OMIM:300607
23229	ARHGEF9	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:163985
23229	ARHGEF9	HP:0002384	Focal impaired awareness seizure	1/2	OMIM:300607
23229	ARHGEF9	HP:0002376	Developmental regression	HP:0040282	ORPHA:163985
23229	ARHGEF9	HP:0002376	Developmental regression	1/1	OMIM:300607
23229	ARHGEF9	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:163985
23229	ARHGEF9	HP:0006821	Frontal polymicrogyria	1/2	OMIM:300607
23229	ARHGEF9	HP:0011463	Childhood onset	1/2	OMIM:300607
23229	ARHGEF9	HP:0000243	Trigonocephaly	HP:0040283	ORPHA:163985
23229	ARHGEF9	HP:0000243	Trigonocephaly	1/2	OMIM:300607
23229	ARHGEF9	HP:0001548	Overgrowth	1/2	OMIM:300607
23229	ARHGEF9	HP:0032792	Tonic seizure	1/1	OMIM:300607
23230	VPS13A	HP:0002487	Hyperkinetic movements	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0002495	Impaired vibratory sensation	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0025100	Abnormal hippocampus morphology	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0002451	Limb dystonia	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0007326	Progressive choreoathetosis	-	OMIM:200150
23230	VPS13A	HP:0003763	Bruxism	1/1	OMIM:200150
23230	VPS13A	HP:0003763	Bruxism	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0001276	Hypertonia	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0001268	Mental deterioration	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0002599	Head titubation	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0001284	Areflexia	1/2	OMIM:200150
23230	VPS13A	HP:0001250	Seizure	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0001250	Seizure	-	OMIM:200150
23230	VPS13A	HP:0001252	Hypotonia	1/1	OMIM:200150
23230	VPS13A	HP:0001265	Hyporeflexia	1/2	OMIM:200150
23230	VPS13A	HP:0001260	Dysarthria	1/1	OMIM:200150
23230	VPS13A	HP:0001260	Dysarthria	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	2/2	OMIM:200150
23230	VPS13A	HP:0002527	Falls	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0031008	Lingual dystonia	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0012048	Oromandibular dystonia	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0012049	Laryngeal dystonia	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0001369	Arthritis	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0025331	Upgaze palsy	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0001350	Slurred speech	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0001332	Dystonia	-	OMIM:200150
23230	VPS13A	HP:0000007	Autosomal recessive inheritance	-	OMIM:200150
23230	VPS13A	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0001300	Parkinsonism	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0001300	Parkinsonism	-	OMIM:200150
23230	VPS13A	HP:0025479	Self-neglect	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0012167	Hair-pulling	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0012168	Head-banging	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/2	OMIM:200150
23230	VPS13A	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040284	ORPHA:2388
23230	VPS13A	HP:0025402	Square-wave jerks	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0002015	Dysphagia	1/1	OMIM:200150
23230	VPS13A	HP:0002015	Dysphagia	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:200150
23230	VPS13A	HP:0002067	Bradykinesia	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0002072	Chorea	HP:0040281	ORPHA:2388
23230	VPS13A	HP:0002072	Chorea	2/2	OMIM:200150
23230	VPS13A	HP:0003380	Decreased number of peripheral myelinated nerve fibers	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0008110	Equinovarus deformity	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0003477	Peripheral axonal neuropathy	2/2	OMIM:200150
23230	VPS13A	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0003445	EMG: neuropathic changes	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0003438	Absent Achilles reflex	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0003596	Middle age onset	1/2	OMIM:200150
23230	VPS13A	HP:0002275	Poor motor coordination	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0011999	Paranoia	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0007078	Decreased amplitude of sensory action potentials	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0002360	Sleep abnormality	HP:0040284	ORPHA:2388
23230	VPS13A	HP:0003690	Limb muscle weakness	-	OMIM:200150
23230	VPS13A	HP:0003676	Progressive	-	OMIM:200150
23230	VPS13A	HP:0002340	Caudate atrophy	2/2	OMIM:200150
23230	VPS13A	HP:0002340	Caudate atrophy	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0002322	Resting tremor	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0010808	Protruding tongue	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0002310	Orofacial dyskinesia	2/2	OMIM:200150
23230	VPS13A	HP:0002307	Drooling	-	OMIM:200150
23230	VPS13A	HP:0031843	Abnormally slow thought process	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0000643	Blepharospasm	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0001927	Acanthocytosis	2/2	OMIM:200150
23230	VPS13A	HP:0001927	Acanthocytosis	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0012697	Small basal ganglia	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0009049	Peroneal muscle atrophy	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0012675	Iron accumulation in brain	HP:0040284	ORPHA:2388
23230	VPS13A	HP:0031956	Elevated circulating aspartate aminotransferase concentration	HP:0040284	ORPHA:2388
23230	VPS13A	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0031964	Elevated circulating alanine aminotransferase concentration	HP:0040284	ORPHA:2388
23230	VPS13A	HP:0006956	Lateral ventricle dilatation	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0006956	Lateral ventricle dilatation	2/2	OMIM:200150
23230	VPS13A	HP:0004305	Involuntary movements	HP:0040281	ORPHA:2388
23230	VPS13A	HP:0031982	Abnormal putamen morphology	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0006913	Frontal cortical atrophy	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0031908	Micrographia	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0000752	Hyperactivity	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0000751	Personality changes	-	OMIM:200150
23230	VPS13A	HP:0000763	Sensory neuropathy	-	OMIM:200150
23230	VPS13A	HP:0100035	Phonic tics	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0100033	Tics	-	OMIM:200150
23230	VPS13A	HP:0100034	Motor tics	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0000737	Irritability	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0000739	Anxiety	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0000739	Anxiety	1/2	OMIM:200150
23230	VPS13A	HP:0000734	Disinhibition	-	OMIM:200150
23230	VPS13A	HP:0000736	Short attention span	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0000741	Apathy	2/2	OMIM:200150
23230	VPS13A	HP:0000741	Apathy	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0000716	Depression	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0000716	Depression	1/2	OMIM:200150
23230	VPS13A	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0000718	Aggressive behavior	-	OMIM:200150
23230	VPS13A	HP:0000712	Emotional lability	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0000712	Emotional lability	-	OMIM:200150
23230	VPS13A	HP:0000726	Dementia	HP:0040283	OMIM:200150
23230	VPS13A	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0000709	Psychosis	-	OMIM:200150
23230	VPS13A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0011462	Young adult onset	1/2	OMIM:200150
23230	VPS13A	HP:0003198	Myopathy	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0003236	Elevated circulating creatine kinase concentration	1/2	OMIM:200150
23230	VPS13A	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0003202	Skeletal muscle atrophy	-	OMIM:200150
23230	VPS13A	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0025517	Hypoplastic hippocampus	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040284	ORPHA:2388
23230	VPS13A	HP:0001644	Dilated cardiomyopathy	HP:0040284	ORPHA:2388
23230	VPS13A	HP:0012479	Temporomandibular joint crepitus	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0030220	Socially inappropriate behavior	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0030272	Abnormal erythrocyte enzyme concentration or activity	HP:0040282	ORPHA:2388
23230	VPS13A	HP:0001744	Splenomegaly	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0001761	Pes cavus	-	OMIM:200150
23230	VPS13A	HP:0000514	Slow saccadic eye movements	HP:0040283	ORPHA:2388
23230	VPS13A	HP:0001824	Weight loss	HP:0040283	ORPHA:2388
23233	EXOC6B	HP:0001182	Tapered finger	-	OMIM:618395
23233	EXOC6B	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
23233	EXOC6B	HP:0001293	Cranial nerve compression	-	OMIM:131300
23233	EXOC6B	HP:0001252	Hypotonia	2/7	OMIM:615777
23233	EXOC6B	HP:0001249	Intellectual disability	5/7	OMIM:615777
23233	EXOC6B	HP:0001263	Global developmental delay	-	OMIM:615777
23233	EXOC6B	HP:0100864	Short femoral neck	-	OMIM:618395
23233	EXOC6B	HP:0001216	Delayed ossification of carpal bones	2/2	OMIM:618395
23233	EXOC6B	HP:0002515	Waddling gait	54/102	OMIM:131300
23233	EXOC6B	HP:0001382	Joint hypermobility	2/2	OMIM:618395
23233	EXOC6B	HP:0001382	Joint hypermobility	-	OMIM:615777
23233	EXOC6B	HP:0002694	Sclerosis of skull base	-	OMIM:131300
23233	EXOC6B	HP:0008897	Postnatal growth retardation	-	OMIM:615777
23233	EXOC6B	HP:0012095	Multiple joint dislocation	-	OMIM:618395
23233	EXOC6B	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
23233	EXOC6B	HP:0001324	Muscle weakness	40/96	OMIM:131300
23233	EXOC6B	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
23233	EXOC6B	HP:0000007	Autosomal recessive inheritance	-	OMIM:618395
23233	EXOC6B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
23233	EXOC6B	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
23233	EXOC6B	HP:0002650	Scoliosis	2/2	OMIM:618395
23233	EXOC6B	HP:0002650	Scoliosis	12/14	OMIM:131300
23233	EXOC6B	HP:0002651	Spondyloepimetaphyseal dysplasia	-	OMIM:618395
23233	EXOC6B	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
23233	EXOC6B	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
23233	EXOC6B	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
23233	EXOC6B	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
23233	EXOC6B	HP:0001498	Carpal bone hypoplasia	2/2	OMIM:618395
23233	EXOC6B	HP:0000175	Cleft palate	2/7	OMIM:615777
23233	EXOC6B	HP:0003301	Irregular vertebral endplates	2/2	OMIM:618395
23233	EXOC6B	HP:0003388	Easy fatigability	36/76	OMIM:131300
23233	EXOC6B	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
23233	EXOC6B	HP:0003577	Congenital onset	2/2	OMIM:618395
23233	EXOC6B	HP:0003510	Severe short stature	7/7	OMIM:615777
23233	EXOC6B	HP:0002315	Headache	-	OMIM:131300
23233	EXOC6B	HP:0004976	Knee dislocation	2/2	OMIM:618395
23233	EXOC6B	HP:0004976	Knee dislocation	6/7	OMIM:615777
23233	EXOC6B	HP:0009803	Short phalanx of finger	-	OMIM:615777
23233	EXOC6B	HP:0008450	Narrow vertebral interpedicular distance	2/2	OMIM:618395
23233	EXOC6B	HP:0009763	Limb pain	63/92	OMIM:131300
23233	EXOC6B	HP:0003621	Juvenile onset	-	OMIM:131300
23233	EXOC6B	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
23233	EXOC6B	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
23233	EXOC6B	HP:6001056	Out-toeing	-	OMIM:131300
23233	EXOC6B	HP:0000651	Diplopia	-	OMIM:131300
23233	EXOC6B	HP:0001956	Truncal obesity	2/7	OMIM:615777
23233	EXOC6B	HP:0001903	Anemia	HP:0040283	OMIM:131300
23233	EXOC6B	HP:0010049	Short metacarpal	-	OMIM:615777
23233	EXOC6B	HP:0000678	Dental crowding	-	OMIM:615777
23233	EXOC6B	HP:0000670	Carious teeth	-	OMIM:131300
23233	EXOC6B	HP:0011304	Broad thumb	2/7	OMIM:615777
23233	EXOC6B	HP:0000668	Hypodontia	-	OMIM:615777
23233	EXOC6B	HP:0000664	Synophrys	-	OMIM:615777
23233	EXOC6B	HP:0004322	Short stature	-	OMIM:618395
23233	EXOC6B	HP:0003083	Dislocated radial head	2/2	OMIM:618395
23233	EXOC6B	HP:0004396	Poor appetite	-	OMIM:131300
23233	EXOC6B	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
23233	EXOC6B	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
23233	EXOC6B	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
23233	EXOC6B	HP:0003026	Short long bone	7/7	OMIM:615777
23233	EXOC6B	HP:0003025	Metaphyseal irregularity	-	OMIM:618395
23233	EXOC6B	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
23233	EXOC6B	HP:0031936	Delayed ability to walk	2/2	OMIM:618395
23233	EXOC6B	HP:0003022	Hypoplasia of the ulna	-	OMIM:618395
23233	EXOC6B	HP:0000767	Pectus excavatum	2/7	OMIM:615777
23233	EXOC6B	HP:0000768	Pectus carinatum	1/7	OMIM:615777
23233	EXOC6B	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
23233	EXOC6B	HP:0000750	Delayed speech and language development	-	OMIM:615777
23233	EXOC6B	HP:0011461	Fetal onset	7/7	OMIM:615777
23233	EXOC6B	HP:0000774	Narrow chest	2/7	OMIM:615777
23233	EXOC6B	HP:0000926	Platyspondyly	1/7	OMIM:615777
23233	EXOC6B	HP:0000926	Platyspondyly	-	OMIM:618395
23233	EXOC6B	HP:0003180	Flat acetabular roof	-	OMIM:615777
23233	EXOC6B	HP:0004482	Relative macrocephaly	-	OMIM:615777
23233	EXOC6B	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
23233	EXOC6B	HP:0000883	Thin ribs	-	OMIM:618395
23233	EXOC6B	HP:0000823	Delayed puberty	-	OMIM:131300
23233	EXOC6B	HP:0000894	Short clavicles	-	OMIM:615777
23233	EXOC6B	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
23233	EXOC6B	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
23233	EXOC6B	HP:0000286	Epicanthus	1/7	OMIM:615777
23233	EXOC6B	HP:0000280	Coarse facial features	2/7	OMIM:615777
23233	EXOC6B	HP:0000268	Dolichocephaly	-	OMIM:618395
23233	EXOC6B	HP:0002827	Hip dislocation	3/7	OMIM:615777
23233	EXOC6B	HP:0002827	Hip dislocation	2/2	OMIM:618395
23233	EXOC6B	HP:0000252	Microcephaly	-	OMIM:615777
23233	EXOC6B	HP:0002857	Genu valgum	-	OMIM:131300
23233	EXOC6B	HP:0001533	Slender build	-	OMIM:131300
23233	EXOC6B	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
23233	EXOC6B	HP:0001513	Obesity	HP:0040284	OMIM:618395
23233	EXOC6B	HP:0007807	Optic nerve compression	-	OMIM:131300
23233	EXOC6B	HP:0012368	Flat face	7/7	OMIM:615777
23233	EXOC6B	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
23233	EXOC6B	HP:0000365	Hearing impairment	10/67	OMIM:131300
23233	EXOC6B	HP:0000343	Long philtrum	1/7	OMIM:615777
23233	EXOC6B	HP:0011001	Increased bone mineral density	-	OMIM:131300
23233	EXOC6B	HP:0002999	Patellar dislocation	2/2	OMIM:618395
23233	EXOC6B	HP:0000311	Round face	2/7	OMIM:615777
23233	EXOC6B	HP:0002970	Genu varum	-	OMIM:615777
23233	EXOC6B	HP:0000303	Mandibular prognathia	-	OMIM:131300
23233	EXOC6B	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
23233	EXOC6B	HP:0000470	Short neck	-	OMIM:618395
23233	EXOC6B	HP:0000470	Short neck	1/7	OMIM:615777
23233	EXOC6B	HP:0001769	Broad foot	HP:0040283	OMIM:615777
23233	EXOC6B	HP:0001763	Pes planus	1/7	OMIM:615777
23233	EXOC6B	HP:0001763	Pes planus	-	OMIM:618395
23233	EXOC6B	HP:0001840	Metatarsus adductus	-	OMIM:615777
23233	EXOC6B	HP:0000520	Proptosis	2/4	OMIM:131300
23233	EXOC6B	HP:0000520	Proptosis	7/7	OMIM:615777
23233	EXOC6B	HP:0000592	Blue sclerae	2/7	OMIM:615777
23233	EXOC6B	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
23233	EXOC6B	HP:0012514	Lower limb pain	4/4	OMIM:131300
23236	PLCB1	HP:0001276	Hypertonia	HP:0040283	ORPHA:293181
23236	PLCB1	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:293181
23236	PLCB1	HP:0001252	Hypotonia	HP:0040282	ORPHA:293181
23236	PLCB1	HP:0001257	Spasticity	1/1	OMIM:613722
23236	PLCB1	HP:0007359	Focal-onset seizure	1/1	OMIM:613722
23236	PLCB1	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:293181
23236	PLCB1	HP:0002540	Inability to walk	HP:0040281	ORPHA:293181
23236	PLCB1	HP:0002521	Hypsarrhythmia	HP:0040281	ORPHA:697160
23236	PLCB1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:293181
23236	PLCB1	HP:0002521	Hypsarrhythmia	1/1	OMIM:613722
23236	PLCB1	HP:0001347	Hyperreflexia	-	OMIM:613722
23236	PLCB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613722
23236	PLCB1	HP:0001336	Myoclonus	HP:0040281	ORPHA:697160
23236	PLCB1	HP:0002650	Scoliosis	HP:0040283	ORPHA:293181
23236	PLCB1	HP:0008936	Axial hypotonia	1/1	OMIM:613722
23236	PLCB1	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:293181
23236	PLCB1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:293181
23236	PLCB1	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:613722
23236	PLCB1	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:293181
23236	PLCB1	HP:0003593	Infantile onset	1/1	OMIM:613722
23236	PLCB1	HP:0200134	Epileptic encephalopathy	1/1	OMIM:613722
23236	PLCB1	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:293181
23236	PLCB1	HP:0002376	Developmental regression	HP:0040281	ORPHA:293181
23236	PLCB1	HP:0002376	Developmental regression	HP:0040281	ORPHA:697160
23236	PLCB1	HP:0002376	Developmental regression	1/1	OMIM:613722
23236	PLCB1	HP:0010841	Multifocal epileptiform discharges	HP:0040281	ORPHA:293181
23236	PLCB1	HP:0010821	Focal emotional seizure with laughing	HP:0040282	ORPHA:293181
23236	PLCB1	HP:0031834	Aortopulmonary collateral arteries	HP:0040283	ORPHA:293181
23236	PLCB1	HP:0006813	Focal hemiclonic seizure	HP:0040282	ORPHA:293181
23236	PLCB1	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:293181
23236	PLCB1	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:697160
23236	PLCB1	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:293181
23236	PLCB1	HP:0000826	Precocious puberty	HP:0040284	ORPHA:293181
23236	PLCB1	HP:0000252	Microcephaly	HP:0040282	ORPHA:293181
23236	PLCB1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:293181
23236	PLCB1	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:293181
23236	PLCB1	HP:0011097	Epileptic spasm	1/1	OMIM:613722
23236	PLCB1	HP:0032792	Tonic seizure	1/1	OMIM:613722
23236	PLCB1	HP:0032794	Myoclonic seizure	HP:0040282	ORPHA:293181
23236	PLCB1	HP:0012469	Infantile spasms	HP:0040281	ORPHA:697160
23236	PLCB1	HP:0012448	Delayed myelination	HP:0040283	ORPHA:293181
23236	PLCB1	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:697160
23236	PLCB1	HP:0000505	Visual impairment	HP:0040283	ORPHA:293181
23241	PACS2	HP:0020221	Clonic seizure	2/13	OMIM:618067
23241	PACS2	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
23241	PACS2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
23241	PACS2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
23241	PACS2	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
23241	PACS2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
23241	PACS2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
23241	PACS2	HP:0001250	Seizure	HP:0040282	ORPHA:442835
23241	PACS2	HP:0001250	Seizure	14/14	OMIM:618067
23241	PACS2	HP:0001252	Hypotonia	7/11	OMIM:618067
23241	PACS2	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
23241	PACS2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
23241	PACS2	HP:0001249	Intellectual disability	14/14	OMIM:618067
23241	PACS2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
23241	PACS2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
23241	PACS2	HP:0001263	Global developmental delay	14/14	OMIM:618067
23241	PACS2	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
23241	PACS2	HP:0007359	Focal-onset seizure	4/13	OMIM:618067
23241	PACS2	HP:0007334	Bilateral tonic-clonic seizure with focal onset	2/13	OMIM:618067
23241	PACS2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
23241	PACS2	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
23241	PACS2	HP:0000028	Cryptorchidism	3/5	OMIM:618067
23241	PACS2	HP:0001337	Tremor	HP:0040283	ORPHA:442835
23241	PACS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618067
23241	PACS2	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
23241	PACS2	HP:0001320	Cerebellar vermis hypoplasia	4/14	OMIM:618067
23241	PACS2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
23241	PACS2	HP:0000154	Wide mouth	9/13	OMIM:618067
23241	PACS2	HP:0002714	Downturned corners of mouth	9/13	OMIM:618067
23241	PACS2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
23241	PACS2	HP:0002069	Bilateral tonic-clonic seizure	6/13	OMIM:618067
23241	PACS2	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
23241	PACS2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
23241	PACS2	HP:0002136	Broad-based gait	2/14	OMIM:618067
23241	PACS2	HP:0002133	Status epilepticus	2/13	OMIM:618067
23241	PACS2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
23241	PACS2	HP:0002266	Focal clonic seizure	2/13	OMIM:618067
23241	PACS2	HP:0003593	Infantile onset	2/14	OMIM:618067
23241	PACS2	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
23241	PACS2	HP:0200134	Epileptic encephalopathy	-	OMIM:618067
23241	PACS2	HP:0002280	Enlarged cisterna magna	8/14	OMIM:618067
23241	PACS2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
23241	PACS2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
23241	PACS2	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
23241	PACS2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
23241	PACS2	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
23241	PACS2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
23241	PACS2	HP:0010818	Generalized tonic seizure	1/13	OMIM:618067
23241	PACS2	HP:0003623	Neonatal onset	12/14	OMIM:618067
23241	PACS2	HP:0004209	Clinodactyly of the 5th finger	3/14	OMIM:618067
23241	PACS2	HP:0000639	Nystagmus	3/14	OMIM:618067
23241	PACS2	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
23241	PACS2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
23241	PACS2	HP:0001903	Anemia	4/13	OMIM:618067
23241	PACS2	HP:0000675	Macrodontia of permanent maxillary central incisor	3/9	OMIM:618067
23241	PACS2	HP:0000687	Widely spaced teeth	3/9	OMIM:618067
23241	PACS2	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
23241	PACS2	HP:0000664	Synophrys	4/13	OMIM:618067
23241	PACS2	HP:0004322	Short stature	HP:0040283	ORPHA:442835
23241	PACS2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
23241	PACS2	HP:0031936	Delayed ability to walk	8/12	OMIM:618067
23241	PACS2	HP:0000733	Motor stereotypy	6/14	OMIM:618067
23241	PACS2	HP:0000750	Delayed speech and language development	13/13	OMIM:618067
23241	PACS2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
23241	PACS2	HP:0000717	Autism	HP:0040283	ORPHA:442835
23241	PACS2	HP:0000729	Autistic behavior	4/14	OMIM:618067
23241	PACS2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
23241	PACS2	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
23241	PACS2	HP:0000280	Coarse facial features	1/14	OMIM:618067
23241	PACS2	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
23241	PACS2	HP:0000219	Thin upper lip vermilion	12/13	OMIM:618067
23241	PACS2	HP:0000232	Everted lower lip vermilion	5/9	OMIM:618067
23241	PACS2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
23241	PACS2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
23241	PACS2	HP:0032792	Tonic seizure	2/13	OMIM:618067
23241	PACS2	HP:0000348	High forehead	HP:0040283	ORPHA:442835
23241	PACS2	HP:0001651	Dextrocardia	1/14	OMIM:618067
23241	PACS2	HP:0032794	Myoclonic seizure	1/13	OMIM:618067
23241	PACS2	HP:0000316	Hypertelorism	7/13	OMIM:618067
23241	PACS2	HP:0001629	Ventricular septal defect	1/14	OMIM:618067
23241	PACS2	HP:0001631	Atrial septal defect	1/14	OMIM:618067
23241	PACS2	HP:0011167	Focal tonic seizure	2/13	OMIM:618067
23241	PACS2	HP:0000483	Astigmatism	4/14	OMIM:618067
23241	PACS2	HP:0000486	Strabismus	3/14	OMIM:618067
23241	PACS2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
23241	PACS2	HP:0000494	Downslanted palpebral fissures	8/13	OMIM:618067
23241	PACS2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
23241	PACS2	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
23241	PACS2	HP:0000431	Wide nasal bridge	10/13	OMIM:618067
23241	PACS2	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
23241	PACS2	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
23241	PACS2	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
23241	PACS2	HP:0000540	Hypermetropia	2/14	OMIM:618067
23241	PACS2	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
23241	PACS2	HP:0000545	Myopia	3/14	OMIM:618067
23241	PACS2	HP:0001875	Decreased total neutrophil count	2/13	OMIM:618067
23247	KATNIP	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
23247	KATNIP	HP:0001290	Generalized hypotonia	2/3	OMIM:616784
23247	KATNIP	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
23247	KATNIP	HP:0001250	Seizure	HP:0040283	ORPHA:475
23247	KATNIP	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
23247	KATNIP	HP:0001251	Ataxia	HP:0040281	ORPHA:475
23247	KATNIP	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
23247	KATNIP	HP:0001263	Global developmental delay	3/3	OMIM:616784
23247	KATNIP	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
23247	KATNIP	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
23247	KATNIP	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
23247	KATNIP	HP:0000054	Micropenis	-	OMIM:616784
23247	KATNIP	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
23247	KATNIP	HP:0000007	Autosomal recessive inheritance	-	OMIM:616784
23247	KATNIP	HP:0001337	Tremor	HP:0040283	ORPHA:475
23247	KATNIP	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
23247	KATNIP	HP:0001320	Cerebellar vermis hypoplasia	3/3	OMIM:616784
23247	KATNIP	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
23247	KATNIP	HP:0000175	Cleft palate	1/3	OMIM:616784
23247	KATNIP	HP:0410030	Cleft lip	1/3	OMIM:616784
23247	KATNIP	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
23247	KATNIP	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:616784
23247	KATNIP	HP:0002007	Frontal bossing	-	OMIM:616784
23247	KATNIP	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
23247	KATNIP	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
23247	KATNIP	HP:0011787	Central hypothyroidism	-	OMIM:616784
23247	KATNIP	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
23247	KATNIP	HP:0002104	Apnea	HP:0040281	ORPHA:475
23247	KATNIP	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
23247	KATNIP	HP:0003577	Congenital onset	-	OMIM:616784
23247	KATNIP	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
23247	KATNIP	HP:0000639	Nystagmus	-	OMIM:616784
23247	KATNIP	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
23247	KATNIP	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
23247	KATNIP	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
23247	KATNIP	HP:0004322	Short stature	-	OMIM:616784
23247	KATNIP	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
23247	KATNIP	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
23247	KATNIP	HP:0000871	Panhypopituitarism	-	OMIM:616784
23247	KATNIP	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
23247	KATNIP	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:616784
23247	KATNIP	HP:0000276	Long face	HP:0040282	ORPHA:475
23247	KATNIP	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
23247	KATNIP	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
23247	KATNIP	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
23247	KATNIP	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
23247	KATNIP	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
23247	KATNIP	HP:0000316	Hypertelorism	-	OMIM:616784
23247	KATNIP	HP:0000486	Strabismus	HP:0040283	ORPHA:475
23247	KATNIP	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
23247	KATNIP	HP:0000463	Anteverted nares	-	OMIM:616784
23247	KATNIP	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
23247	KATNIP	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
23247	KATNIP	HP:0000508	Ptosis	-	OMIM:616784
23247	KATNIP	HP:0000508	Ptosis	HP:0040283	ORPHA:475
23250	ATP11A	HP:0025175	Honeycomb lung	HP:0040282	ORPHA:2032
23250	ATP11A	HP:0025179	Ground-glass opacification	HP:0040282	ORPHA:2032
23250	ATP11A	HP:0002415	Leukodystrophy	1/1	OMIM:619851
23250	ATP11A	HP:0001284	Areflexia	1/1	OMIM:619851
23250	ATP11A	HP:0001250	Seizure	1/1	OMIM:619851
23250	ATP11A	HP:0001263	Global developmental delay	1/1	OMIM:619851
23250	ATP11A	HP:0010976	Decreased total B cell count	1/1	OMIM:619851
23250	ATP11A	HP:0032341	Reduced forced vital capacity	HP:0040282	ORPHA:2032
23250	ATP11A	HP:0025352	Typically de novo	-	OMIM:619851
23250	ATP11A	HP:0001371	Flexion contracture	1/1	OMIM:619851
23250	ATP11A	HP:0025390	Reticular pattern on pulmonary HRCT	HP:0040282	ORPHA:2032
23250	ATP11A	HP:0033725	Thin corpus callosum	1/1	OMIM:619851
23250	ATP11A	HP:0000006	Autosomal dominant inheritance	-	OMIM:620384
23250	ATP11A	HP:0000006	Autosomal dominant inheritance	-	OMIM:619810
23250	ATP11A	HP:0001308	Tongue fasciculations	1/1	OMIM:619851
23250	ATP11A	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2032
23250	ATP11A	HP:0002059	Cerebral atrophy	1/1	OMIM:619851
23250	ATP11A	HP:0010444	Pulmonic regurgitation	HP:0040283	ORPHA:2032
23250	ATP11A	HP:0003477	Peripheral axonal neuropathy	1/1	OMIM:619851
23250	ATP11A	HP:0002119	Ventriculomegaly	1/1	OMIM:619851
23250	ATP11A	HP:0003431	Decreased motor nerve conduction velocity	1/1	OMIM:619851
23250	ATP11A	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:2032
23250	ATP11A	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:2032
23250	ATP11A	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:2032
23250	ATP11A	HP:0100759	Clubbing of fingers	HP:0040282	ORPHA:2032
23250	ATP11A	HP:0033367	Orthodeoxia	HP:0040283	ORPHA:2032
23250	ATP11A	HP:0003510	Severe short stature	1/1	OMIM:619851
23250	ATP11A	HP:0001063	Acrocyanosis	HP:0040282	ORPHA:2032
23250	ATP11A	HP:0002376	Developmental regression	1/1	OMIM:619851
23250	ATP11A	HP:0003676	Progressive	-	OMIM:620384
23250	ATP11A	HP:0003676	Progressive	-	OMIM:619810
23250	ATP11A	HP:0003623	Neonatal onset	1/1	OMIM:619851
23250	ATP11A	HP:0003621	Juvenile onset	-	OMIM:620384
23250	ATP11A	HP:0003621	Juvenile onset	-	OMIM:619810
23250	ATP11A	HP:0001963	Abnormal speech discrimination	-	OMIM:620384
23250	ATP11A	HP:0031950	Usual interstitial pneumonia	HP:0040282	ORPHA:2032
23250	ATP11A	HP:0012735	Cough	HP:0040282	ORPHA:2032
23250	ATP11A	HP:0012704	Widened subarachnoid space	1/1	OMIM:619851
23250	ATP11A	HP:0011463	Childhood onset	-	OMIM:619810
23250	ATP11A	HP:0011462	Young adult onset	-	OMIM:619810
23250	ATP11A	HP:0000821	Hypothyroidism	1/1	OMIM:619851
23250	ATP11A	HP:0045051	Decreased DLCO	HP:0040282	ORPHA:2032
23250	ATP11A	HP:0030830	Crackles	HP:0040282	ORPHA:2032
23250	ATP11A	HP:0000252	Microcephaly	1/1	OMIM:619851
23250	ATP11A	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:2032
23250	ATP11A	HP:0012378	Fatigue	HP:0040282	ORPHA:2032
23250	ATP11A	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040281	ORPHA:2032
23250	ATP11A	HP:0031631	Subpleural honeycombing	HP:0040282	ORPHA:2032
23250	ATP11A	HP:0000407	Sensorineural hearing impairment	-	OMIM:620384
23250	ATP11A	HP:0000407	Sensorineural hearing impairment	-	OMIM:619810
23250	ATP11A	HP:0000518	Cataract	1/1	OMIM:619851
23258	DENND5A	HP:0020221	Clonic seizure	2/3	OMIM:617281
23258	DENND5A	HP:0001263	Global developmental delay	2/3	OMIM:617281
23258	DENND5A	HP:0001257	Spasticity	-	OMIM:617281
23258	DENND5A	HP:0002514	Cerebral calcification	1/3	OMIM:617281
23258	DENND5A	HP:0002510	Spastic tetraplegia	2/3	OMIM:617281
23258	DENND5A	HP:0001347	Hyperreflexia	-	OMIM:617281
23258	DENND5A	HP:0001344	Absent speech	1/3	OMIM:617281
23258	DENND5A	HP:0000007	Autosomal recessive inheritance	-	OMIM:617281
23258	DENND5A	HP:0001336	Myoclonus	1/3	OMIM:617281
23258	DENND5A	HP:0001305	Dandy-Walker malformation	1/3	OMIM:617281
23258	DENND5A	HP:0001320	Cerebellar vermis hypoplasia	1/3	OMIM:617281
23258	DENND5A	HP:0000194	Open mouth	3/3	OMIM:617281
23258	DENND5A	HP:0008936	Axial hypotonia	-	OMIM:617281
23258	DENND5A	HP:0002007	Frontal bossing	-	OMIM:617281
23258	DENND5A	HP:0002069	Bilateral tonic-clonic seizure	3/3	OMIM:617281
23258	DENND5A	HP:0002119	Ventriculomegaly	2/3	OMIM:617281
23258	DENND5A	HP:0002135	Basal ganglia calcification	2/3	OMIM:617281
23258	DENND5A	HP:0002267	Exaggerated startle response	1/3	OMIM:617281
23258	DENND5A	HP:0100702	Arachnoid cyst	1/3	OMIM:617281
23258	DENND5A	HP:0200134	Epileptic encephalopathy	3/3	OMIM:617281
23258	DENND5A	HP:0007089	Facial-lingual fasciculations	1/3	OMIM:617281
23258	DENND5A	HP:0002353	EEG abnormality	3/3	OMIM:617281
23258	DENND5A	HP:0010804	Tented upper lip vermilion	3/3	OMIM:617281
23258	DENND5A	HP:0003623	Neonatal onset	3/3	OMIM:617281
23258	DENND5A	HP:0000648	Optic atrophy	HP:0040284	OMIM:617281
23258	DENND5A	HP:0011344	Severe global developmental delay	3/3	OMIM:617281
23258	DENND5A	HP:0006989	Dysplastic corpus callosum	2/3	OMIM:617281
23258	DENND5A	HP:0000752	Hyperactivity	1/3	OMIM:617281
23258	DENND5A	HP:0012736	Profound global developmental delay	-	OMIM:617281
23258	DENND5A	HP:0000739	Anxiety	1/3	OMIM:617281
23258	DENND5A	HP:0000280	Coarse facial features	3/3	OMIM:617281
23258	DENND5A	HP:0000238	Hydrocephalus	1/3	OMIM:617281
23258	DENND5A	HP:0000252	Microcephaly	3/3	OMIM:617281
23258	DENND5A	HP:0000215	Thick upper lip vermilion	-	OMIM:617281
23258	DENND5A	HP:0000232	Everted lower lip vermilion	3/3	OMIM:617281
23258	DENND5A	HP:0032792	Tonic seizure	2/3	OMIM:617281
23258	DENND5A	HP:0032794	Myoclonic seizure	2/3	OMIM:617281
23258	DENND5A	HP:0000322	Short philtrum	3/3	OMIM:617281
23258	DENND5A	HP:0000400	Macrotia	3/3	OMIM:617281
23258	DENND5A	HP:0000448	Prominent nose	3/3	OMIM:617281
23258	DENND5A	HP:0000527	Long eyelashes	3/3	OMIM:617281
23258	DENND5A	HP:0000574	Thick eyebrow	3/3	OMIM:617281
23259	DDHD2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:320380
23259	DDHD2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:320380
23259	DDHD2	HP:0001249	Intellectual disability	-	OMIM:615033
23259	DDHD2	HP:0001260	Dysarthria	9/12	OMIM:615033
23259	DDHD2	HP:0001260	Dysarthria	HP:0040282	ORPHA:320380
23259	DDHD2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:320380
23259	DDHD2	HP:0001263	Global developmental delay	12/12	OMIM:615033
23259	DDHD2	HP:0001258	Spastic paraplegia	12/12	OMIM:615033
23259	DDHD2	HP:0001258	Spastic paraplegia	HP:0040281	ORPHA:320380
23259	DDHD2	HP:0007340	Lower limb muscle weakness	-	OMIM:615033
23259	DDHD2	HP:0000020	Urinary incontinence	4/12	OMIM:615033
23259	DDHD2	HP:0001347	Hyperreflexia	12/12	OMIM:615033
23259	DDHD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615033
23259	DDHD2	HP:0002607	Bowel incontinence	3/12	OMIM:615033
23259	DDHD2	HP:0008959	Distal upper limb muscle weakness	3/12	OMIM:615033
23259	DDHD2	HP:0002019	Constipation	7/12	OMIM:615033
23259	DDHD2	HP:0002015	Dysphagia	6/12	OMIM:615033
23259	DDHD2	HP:0002015	Dysphagia	HP:0040282	ORPHA:320380
23259	DDHD2	HP:0003396	Syringomyelia	2/4	OMIM:615033
23259	DDHD2	HP:0002063	Rigidity	2/12	OMIM:615033
23259	DDHD2	HP:0002064	Spastic gait	HP:0040282	ORPHA:320380
23259	DDHD2	HP:0002079	Hypoplasia of the corpus callosum	11/11	OMIM:615033
23259	DDHD2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:320380
23259	DDHD2	HP:0003487	Babinski sign	-	OMIM:615033
23259	DDHD2	HP:0008366	Foot joint contracture	HP:0040282	ORPHA:320380
23259	DDHD2	HP:0003676	Progressive	-	OMIM:615033
23259	DDHD2	HP:0000609	Optic nerve hypoplasia	3/5	OMIM:615033
23259	DDHD2	HP:0009053	Distal lower limb muscle weakness	9/12	OMIM:615033
23259	DDHD2	HP:0004322	Short stature	HP:0040283	ORPHA:320380
23259	DDHD2	HP:0004322	Short stature	-	OMIM:615033
23259	DDHD2	HP:0006986	Upper limb spasticity	5/12	OMIM:615033
23259	DDHD2	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:320380
23259	DDHD2	HP:0011463	Childhood onset	-	OMIM:615033
23259	DDHD2	HP:0030891	Periventricular white matter hyperintensities	11/11	OMIM:615033
23259	DDHD2	HP:0030891	Periventricular white matter hyperintensities	HP:0040282	ORPHA:320380
23259	DDHD2	HP:0007766	Optic disc hypoplasia	HP:0040282	ORPHA:320380
23259	DDHD2	HP:0000218	High palate	HP:0040283	OMIM:615033
23259	DDHD2	HP:0000218	High palate	HP:0040283	ORPHA:320380
23259	DDHD2	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:320380
23259	DDHD2	HP:0000338	Hypomimic face	3/12	OMIM:615033
23259	DDHD2	HP:0000486	Strabismus	9/12	OMIM:615033
23259	DDHD2	HP:0000486	Strabismus	HP:0040282	ORPHA:320380
23259	DDHD2	HP:0001761	Pes cavus	2/12	OMIM:615033
23259	DDHD2	HP:0000506	Telecanthus	-	OMIM:615033
23261	CAMTA1	HP:0002470	Nonprogressive cerebellar ataxia	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0410170	Hippocampal atrophy	4/4	OMIM:614756
23261	CAMTA1	HP:0007256	Abnormal pyramidal sign	HP:0040284	ORPHA:314647
23261	CAMTA1	HP:0002403	Positive Romberg sign	-	ORPHA:314647
23261	CAMTA1	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:314647
23261	CAMTA1	HP:0001256	Intellectual disability, mild	9/9	OMIM:614756
23261	CAMTA1	HP:0001250	Seizure	1/11	OMIM:614756
23261	CAMTA1	HP:0001251	Ataxia	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0001251	Ataxia	6/11	OMIM:614756
23261	CAMTA1	HP:0001249	Intellectual disability	2/3	OMIM:614756
23261	CAMTA1	HP:0001260	Dysarthria	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0001260	Dysarthria	5/9	OMIM:614756
23261	CAMTA1	HP:0001263	Global developmental delay	3/3	OMIM:614756
23261	CAMTA1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:314647
23261	CAMTA1	HP:0002536	Abnormal cortical gyration	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0001348	Brisk reflexes	HP:0040284	ORPHA:314647
23261	CAMTA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614756
23261	CAMTA1	HP:0001310	Dysmetria	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0001310	Dysmetria	5/11	OMIM:614756
23261	CAMTA1	HP:0002650	Scoliosis	1/3	OMIM:614756
23261	CAMTA1	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0001321	Cerebellar hypoplasia	HP:0040283	OMIM:614756
23261	CAMTA1	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0001319	Neonatal hypotonia	3/9	OMIM:614756
23261	CAMTA1	HP:0000179	Thick lower lip vermilion	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0000179	Thick lower lip vermilion	-	OMIM:614756
23261	CAMTA1	HP:0000160	Narrow mouth	HP:0040284	ORPHA:314647
23261	CAMTA1	HP:0000160	Narrow mouth	3/14	OMIM:614756
23261	CAMTA1	HP:0008936	Axial hypotonia	1/3	OMIM:614756
23261	CAMTA1	HP:0002714	Downturned corners of mouth	-	OMIM:614756
23261	CAMTA1	HP:0002020	Gastroesophageal reflux	1/3	OMIM:614756
23261	CAMTA1	HP:0002019	Constipation	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0002036	Hiatus hernia	1/3	OMIM:614756
23261	CAMTA1	HP:0002003	Large forehead	HP:0040284	ORPHA:314647
23261	CAMTA1	HP:0002003	Large forehead	1/11	OMIM:614756
23261	CAMTA1	HP:0100540	Palpebral edema	HP:0040284	ORPHA:314647
23261	CAMTA1	HP:0100540	Palpebral edema	2/11	OMIM:614756
23261	CAMTA1	HP:0002080	Intention tremor	HP:0040284	ORPHA:314647
23261	CAMTA1	HP:0002069	Bilateral tonic-clonic seizure	1/3	OMIM:614756
23261	CAMTA1	HP:0002066	Gait ataxia	1/3	OMIM:614756
23261	CAMTA1	HP:0010485	Hyperextensibility at elbow	1/3	OMIM:614756
23261	CAMTA1	HP:0002120	Cerebral cortical atrophy	HP:0040284	ORPHA:314647
23261	CAMTA1	HP:0002120	Cerebral cortical atrophy	-	OMIM:614756
23261	CAMTA1	HP:0002136	Broad-based gait	1/3	OMIM:614756
23261	CAMTA1	HP:0003593	Infantile onset	3/3	OMIM:614756
23261	CAMTA1	HP:0002236	Frontal upsweep of hair	1/3	OMIM:614756
23261	CAMTA1	HP:0007015	Poor gross motor coordination	1/3	OMIM:614756
23261	CAMTA1	HP:0007018	Attention deficit hyperactivity disorder	1/3	OMIM:614756
23261	CAMTA1	HP:0002378	Hand tremor	1/3	OMIM:614756
23261	CAMTA1	HP:0002354	Memory impairment	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0002317	Unsteady gait	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0002317	Unsteady gait	12/14	OMIM:614756
23261	CAMTA1	HP:0002307	Drooling	1/3	OMIM:614756
23261	CAMTA1	HP:0004279	Short palm	1/3	OMIM:614756
23261	CAMTA1	HP:0000639	Nystagmus	-	ORPHA:314647
23261	CAMTA1	HP:0004322	Short stature	1/3	OMIM:614756
23261	CAMTA1	HP:0400005	Short ear	2/11	OMIM:614756
23261	CAMTA1	HP:0400005	Short ear	HP:0040284	ORPHA:314647
23261	CAMTA1	HP:0000752	Hyperactivity	-	OMIM:614756
23261	CAMTA1	HP:0000733	Motor stereotypy	2/11	OMIM:614756
23261	CAMTA1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0000750	Delayed speech and language development	10/12	OMIM:614756
23261	CAMTA1	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0000718	Aggressive behavior	3/14	OMIM:614756
23261	CAMTA1	HP:0000729	Autistic behavior	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0005768	2-4 toe cutaneous syndactyly	1/3	OMIM:614756
23261	CAMTA1	HP:0005709	2-3 toe cutaneous syndactyly	1/3	OMIM:614756
23261	CAMTA1	HP:0000256	Macrocephaly	HP:0040284	ORPHA:314647
23261	CAMTA1	HP:0000256	Macrocephaly	2/11	OMIM:614756
23261	CAMTA1	HP:0000276	Long face	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0000276	Long face	-	OMIM:614756
23261	CAMTA1	HP:0000218	High palate	2/3	OMIM:614756
23261	CAMTA1	HP:0025517	Hypoplastic hippocampus	HP:0040284	ORPHA:314647
23261	CAMTA1	HP:0000233	Thin vermilion border	1/3	OMIM:614756
23261	CAMTA1	HP:0011067	Mesiodens	HP:0040284	ORPHA:314647
23261	CAMTA1	HP:0001611	Hypernasal speech	1/3	OMIM:614756
23261	CAMTA1	HP:0000358	Posteriorly rotated ears	2/3	OMIM:614756
23261	CAMTA1	HP:0000369	Low-set ears	-	OMIM:614756
23261	CAMTA1	HP:0000343	Long philtrum	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0000343	Long philtrum	-	OMIM:614756
23261	CAMTA1	HP:0000337	Broad forehead	12/13	OMIM:614756
23261	CAMTA1	HP:0000347	Micrognathia	1/3	OMIM:614756
23261	CAMTA1	HP:0000316	Hypertelorism	1/3	OMIM:614756
23261	CAMTA1	HP:0000307	Pointed chin	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0000307	Pointed chin	-	OMIM:614756
23261	CAMTA1	HP:0011170	Generalized myoclonic-atonic seizure	1/3	OMIM:614756
23261	CAMTA1	HP:0011166	Focal myoclonic seizure	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0000483	Astigmatism	1/3	OMIM:614756
23261	CAMTA1	HP:0000486	Strabismus	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0000486	Strabismus	3/14	OMIM:614756
23261	CAMTA1	HP:0000494	Downslanted palpebral fissures	1/3	OMIM:614756
23261	CAMTA1	HP:0000490	Deeply set eye	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0000463	Anteverted nares	-	OMIM:614756
23261	CAMTA1	HP:0012450	Chronic constipation	2/3	OMIM:614756
23261	CAMTA1	HP:0000454	Flared nostrils	1/3	OMIM:614756
23261	CAMTA1	HP:0012433	Abnormal social behavior	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0000445	Wide nose	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0000414	Bulbous nose	HP:0040282	ORPHA:314647
23261	CAMTA1	HP:0000414	Bulbous nose	11/13	OMIM:614756
23261	CAMTA1	HP:0000411	Protruding ear	-	OMIM:614756
23261	CAMTA1	HP:0000527	Long eyelashes	1/3	OMIM:614756
23261	CAMTA1	HP:0000545	Myopia	1/3	OMIM:614756
23262	PPIP5K2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618422
23262	PPIP5K2	HP:0003577	Congenital onset	12/12	OMIM:618422
23262	PPIP5K2	HP:0001098	Abnormal fundus morphology	0/4	OMIM:618422
23262	PPIP5K2	HP:0000407	Sensorineural hearing impairment	12/12	OMIM:618422
23262	PPIP5K2	HP:0001751	Abnormal vestibular function	0/12	OMIM:618422
23265	EXOC7	HP:0009879	Simplified gyral pattern	-	OMIM:619072
23265	EXOC7	HP:0001263	Global developmental delay	6/6	OMIM:619072
23265	EXOC7	HP:0007359	Focal-onset seizure	-	OMIM:619072
23265	EXOC7	HP:0000007	Autosomal recessive inheritance	-	OMIM:619072
23265	EXOC7	HP:0001321	Cerebellar hypoplasia	4/8	OMIM:619072
23265	EXOC7	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:619072
23265	EXOC7	HP:0002120	Cerebral cortical atrophy	-	OMIM:619072
23265	EXOC7	HP:0003593	Infantile onset	1/8	OMIM:619072
23265	EXOC7	HP:0003577	Congenital onset	2/8	OMIM:619072
23265	EXOC7	HP:0002365	Hypoplasia of the brainstem	-	OMIM:619072
23265	EXOC7	HP:0012695	Decreased thalamic volume	-	OMIM:619072
23265	EXOC7	HP:0011463	Childhood onset	3/8	OMIM:619072
23265	EXOC7	HP:0011461	Fetal onset	2/8	OMIM:619072
23265	EXOC7	HP:0000278	Retrognathia	2/8	OMIM:619072
23265	EXOC7	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:619072
23265	EXOC7	HP:0000252	Microcephaly	2/8	OMIM:619072
23265	EXOC7	HP:0000218	High palate	1/8	OMIM:619072
23265	EXOC7	HP:0000369	Low-set ears	1/8	OMIM:619072
23265	EXOC7	HP:0000343	Long philtrum	1/8	OMIM:619072
23265	EXOC7	HP:0032794	Myoclonic seizure	-	OMIM:619072
23265	EXOC7	HP:0001838	Rocker bottom foot	1/8	OMIM:619072
23268	DNMBP	HP:0012043	Pendular nystagmus	2/12	OMIM:618415
23268	DNMBP	HP:0000007	Autosomal recessive inheritance	-	OMIM:618415
23268	DNMBP	HP:0007663	Reduced visual acuity	11/12	OMIM:618415
23268	DNMBP	HP:0003577	Congenital onset	12/12	OMIM:618415
23268	DNMBP	HP:0000646	Amblyopia	4/12	OMIM:618415
23268	DNMBP	HP:0000616	Miosis	2/12	OMIM:618415
23268	DNMBP	HP:0000518	Cataract	12/12	OMIM:618415
23268	DNMBP	HP:0000577	Exotropia	4/12	OMIM:618415
23279	NUP160	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
23279	NUP160	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
23279	NUP160	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
23279	NUP160	HP:0000097	Focal segmental glomerulosclerosis	1/2	OMIM:618178
23279	NUP160	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
23279	NUP160	HP:0000093	Proteinuria	2/2	OMIM:618178
23279	NUP160	HP:0000007	Autosomal recessive inheritance	-	OMIM:618178
23279	NUP160	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
23279	NUP160	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
23279	NUP160	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
23279	NUP160	HP:0003676	Progressive	-	OMIM:618178
23279	NUP160	HP:0002315	Headache	HP:0040283	ORPHA:656
23279	NUP160	HP:0003621	Juvenile onset	2/2	OMIM:618178
23279	NUP160	HP:0012625	Stage 3 chronic kidney disease	1/2	OMIM:618178
23279	NUP160	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
23279	NUP160	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
23279	NUP160	HP:0001945	Fever	HP:0040283	ORPHA:656
23279	NUP160	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
23279	NUP160	HP:0000737	Irritability	HP:0040283	ORPHA:656
23279	NUP160	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
23279	NUP160	HP:0000969	Edema	HP:0040281	ORPHA:656
23279	NUP160	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
23279	NUP160	HP:0012588	Steroid-resistant nephrotic syndrome	1/2	OMIM:618178
23279	NUP160	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
23287	AGTPBP1	HP:0001272	Cerebellar atrophy	13/13	OMIM:618276
23287	AGTPBP1	HP:0001270	Motor delay	13/13	OMIM:618276
23287	AGTPBP1	HP:0001270	Motor delay	HP:0040281	ORPHA:2254
23287	AGTPBP1	HP:0001250	Seizure	HP:0040283	ORPHA:2254
23287	AGTPBP1	HP:0001252	Hypotonia	13/13	OMIM:618276
23287	AGTPBP1	HP:0001252	Hypotonia	HP:0040281	ORPHA:2254
23287	AGTPBP1	HP:0001251	Ataxia	5/5	OMIM:618276
23287	AGTPBP1	HP:0001251	Ataxia	HP:0040284	ORPHA:2254
23287	AGTPBP1	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:2254
23287	AGTPBP1	HP:0001263	Global developmental delay	13/13	OMIM:618276
23287	AGTPBP1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2254
23287	AGTPBP1	HP:0001257	Spasticity	6/13	OMIM:618276
23287	AGTPBP1	HP:0001257	Spasticity	HP:0040283	ORPHA:2254
23287	AGTPBP1	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:2254
23287	AGTPBP1	HP:0002540	Inability to walk	-	OMIM:618276
23287	AGTPBP1	HP:0003803	Type 1 muscle fiber predominance	2/3	OMIM:618276
23287	AGTPBP1	HP:0025331	Upgaze palsy	2/13	OMIM:618276
23287	AGTPBP1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2254
23287	AGTPBP1	HP:0001332	Dystonia	4/13	OMIM:618276
23287	AGTPBP1	HP:0033725	Thin corpus callosum	HP:0040283	ORPHA:2254
23287	AGTPBP1	HP:0001324	Muscle weakness	13/13	OMIM:618276
23287	AGTPBP1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2254
23287	AGTPBP1	HP:0001344	Absent speech	5/13	OMIM:618276
23287	AGTPBP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618276
23287	AGTPBP1	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:2254
23287	AGTPBP1	HP:0001308	Tongue fasciculations	4/13	OMIM:618276
23287	AGTPBP1	HP:0012110	Hypoplasia of the pons	HP:0040282	ORPHA:2254
23287	AGTPBP1	HP:0012110	Hypoplasia of the pons	1/13	OMIM:618276
23287	AGTPBP1	HP:0002747	Respiratory insufficiency due to muscle weakness	4/13	OMIM:618276
23287	AGTPBP1	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:2254
23287	AGTPBP1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:2254
23287	AGTPBP1	HP:0003593	Infantile onset	11/13	OMIM:618276
23287	AGTPBP1	HP:0002273	Tetraparesis	5/13	OMIM:618276
23287	AGTPBP1	HP:0003577	Congenital onset	1/13	OMIM:618276
23287	AGTPBP1	HP:0004886	Congenital laryngeal stridor	HP:0040283	ORPHA:2254
23287	AGTPBP1	HP:0002283	Global brain atrophy	1/13	OMIM:618276
23287	AGTPBP1	HP:0007002	Motor axonal neuropathy	5/6	OMIM:618276
23287	AGTPBP1	HP:0011968	Feeding difficulties	8/13	OMIM:618276
23287	AGTPBP1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2254
23287	AGTPBP1	HP:0002398	Degeneration of anterior horn cells	HP:0040281	ORPHA:2254
23287	AGTPBP1	HP:0002376	Developmental regression	-	OMIM:618276
23287	AGTPBP1	HP:0003676	Progressive	-	OMIM:618276
23287	AGTPBP1	HP:0002350	Cerebellar cyst	HP:0040283	ORPHA:2254
23287	AGTPBP1	HP:0000639	Nystagmus	3/13	OMIM:618276
23287	AGTPBP1	HP:0000639	Nystagmus	HP:0040282	ORPHA:2254
23287	AGTPBP1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:2254
23287	AGTPBP1	HP:0006989	Dysplastic corpus callosum	5/13	OMIM:618276
23287	AGTPBP1	HP:0011410	Caesarean section	7/13	OMIM:618276
23287	AGTPBP1	HP:0011463	Childhood onset	1/13	OMIM:618276
23287	AGTPBP1	HP:0000817	Reduced eye contact	-	OMIM:618276
23287	AGTPBP1	HP:0003202	Skeletal muscle atrophy	6/13	OMIM:618276
23287	AGTPBP1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:2254
23287	AGTPBP1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	ORPHA:2254
23287	AGTPBP1	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:2254
23287	AGTPBP1	HP:0000252	Microcephaly	8/13	OMIM:618276
23287	AGTPBP1	HP:0002878	Respiratory failure	HP:0040281	ORPHA:2254
23287	AGTPBP1	HP:0001508	Failure to thrive	3/13	OMIM:618276
23287	AGTPBP1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2254
23287	AGTPBP1	HP:0000486	Strabismus	8/13	OMIM:618276
23287	AGTPBP1	HP:0000486	Strabismus	HP:0040283	ORPHA:2254
23287	AGTPBP1	HP:0000514	Slow saccadic eye movements	2/13	OMIM:618276
23287	AGTPBP1	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:2254
23287	AGTPBP1	HP:0000565	Esotropia	HP:0040284	ORPHA:2254
23288	IQCE	HP:0001162	Postaxial hand polydactyly	0/4	OMIM:617642
23288	IQCE	HP:0000007	Autosomal recessive inheritance	-	OMIM:617642
23288	IQCE	HP:0004704	Short fifth metatarsal	1/4	OMIM:617642
23288	IQCE	HP:0003577	Congenital onset	4/4	OMIM:617642
23288	IQCE	HP:0005709	2-3 toe cutaneous syndactyly	1/4	OMIM:617642
23288	IQCE	HP:0001830	Postaxial foot polydactyly	4/4	OMIM:617642
23291	FBXW11	HP:0001156	Brachydactyly	2/7	OMIM:618914
23291	FBXW11	HP:0001290	Generalized hypotonia	2/7	OMIM:618914
23291	FBXW11	HP:0001276	Hypertonia	2/7	OMIM:618914
23291	FBXW11	HP:0001270	Motor delay	6/7	OMIM:618914
23291	FBXW11	HP:0001249	Intellectual disability	6/7	OMIM:618914
23291	FBXW11	HP:0001245	Small thenar eminence	2/7	OMIM:618914
23291	FBXW11	HP:0000089	Renal hypoplasia	1/7	OMIM:618914
23291	FBXW11	HP:0000023	Inguinal hernia	1/7	OMIM:618914
23291	FBXW11	HP:0000006	Autosomal dominant inheritance	-	OMIM:618914
23291	FBXW11	HP:0004691	2-3 toe syndactyly	2/7	OMIM:618914
23291	FBXW11	HP:0002079	Hypoplasia of the corpus callosum	2/5	OMIM:618914
23291	FBXW11	HP:0100710	Impulsivity	1/6	OMIM:618914
23291	FBXW11	HP:0100719	Lens coloboma	1/7	OMIM:618914
23291	FBXW11	HP:0100716	Self-injurious behavior	2/6	OMIM:618914
23291	FBXW11	HP:0006956	Lateral ventricle dilatation	2/5	OMIM:618914
23291	FBXW11	HP:0100021	Cerebral palsy	1/7	OMIM:618914
23291	FBXW11	HP:0000733	Motor stereotypy	1/6	OMIM:618914
23291	FBXW11	HP:0000750	Delayed speech and language development	5/6	OMIM:618914
23291	FBXW11	HP:0000718	Aggressive behavior	2/6	OMIM:618914
23291	FBXW11	HP:0000729	Autistic behavior	3/6	OMIM:618914
23291	FBXW11	HP:0009183	Joint contracture of the 5th finger	1/7	OMIM:618914
23291	FBXW11	HP:0009274	Joint contracture of the 4th finger	1/7	OMIM:618914
23291	FBXW11	HP:0000278	Retrognathia	3/7	OMIM:618914
23291	FBXW11	HP:0001537	Umbilical hernia	1/7	OMIM:618914
23291	FBXW11	HP:0000378	Cupped ear	1/7	OMIM:618914
23291	FBXW11	HP:0000347	Micrognathia	1/7	OMIM:618914
23291	FBXW11	HP:0001642	Pulmonic stenosis	1/7	OMIM:618914
23291	FBXW11	HP:0001655	Patent foramen ovale	1/7	OMIM:618914
23291	FBXW11	HP:0000303	Mandibular prognathia	1/7	OMIM:618914
23291	FBXW11	HP:0000486	Strabismus	1/7	OMIM:618914
23291	FBXW11	HP:0000465	Webbed neck	1/7	OMIM:618914
23291	FBXW11	HP:0031717	Alternating exotropia	1/7	OMIM:618914
23291	FBXW11	HP:0001852	Sandal gap	2/7	OMIM:618914
23291	FBXW11	HP:0000568	Microphthalmia	1/7	OMIM:618914
23291	FBXW11	HP:0000545	Myopia	2/7	OMIM:618914
23299	BICD2	HP:0001188	Hand clenching	1/2	OMIM:618291
23299	BICD2	HP:0001181	Adducted thumb	1/2	OMIM:618291
23299	BICD2	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:363454
23299	BICD2	HP:0007269	Spinal muscular atrophy	-	OMIM:615290
23299	BICD2	HP:0007210	Lower limb amyotrophy	13/18	OMIM:615290
23299	BICD2	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:363454
23299	BICD2	HP:0001270	Motor delay	12/18	OMIM:615290
23299	BICD2	HP:0001270	Motor delay	HP:0040283	ORPHA:363454
23299	BICD2	HP:0001270	Motor delay	-	OMIM:618291
23299	BICD2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:363454
23299	BICD2	HP:0001283	Bulbar palsy	1/18	OMIM:615290
23299	BICD2	HP:0001284	Areflexia	-	OMIM:615290
23299	BICD2	HP:0001249	Intellectual disability	2/18	OMIM:615290
23299	BICD2	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:363454
23299	BICD2	HP:0007340	Lower limb muscle weakness	18/18	OMIM:615290
23299	BICD2	HP:0002515	Waddling gait	HP:0040282	ORPHA:363454
23299	BICD2	HP:0002515	Waddling gait	12/12	OMIM:615290
23299	BICD2	HP:0001374	Congenital hip dislocation	-	OMIM:618291
23299	BICD2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:363454
23299	BICD2	HP:0001371	Flexion contracture	-	OMIM:618291
23299	BICD2	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:363454
23299	BICD2	HP:0001385	Hip dysplasia	5/18	OMIM:615290
23299	BICD2	HP:0001347	Hyperreflexia	3/17	OMIM:615290
23299	BICD2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:363454
23299	BICD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:615290
23299	BICD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618291
23299	BICD2	HP:0001320	Cerebellar vermis hypoplasia	1/2	OMIM:618291
23299	BICD2	HP:0002650	Scoliosis	2/18	OMIM:615290
23299	BICD2	HP:0002650	Scoliosis	-	OMIM:618291
23299	BICD2	HP:0001321	Cerebellar hypoplasia	1/2	OMIM:618291
23299	BICD2	HP:0002600	Hyporeflexia of lower limbs	9/17	OMIM:615290
23299	BICD2	HP:0008994	Proximal muscle weakness in lower limbs	12/12	OMIM:615290
23299	BICD2	HP:0008944	Distal lower limb amyotrophy	HP:0040282	ORPHA:363454
23299	BICD2	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:618291
23299	BICD2	HP:0030973	Postexertional symptom exacerbation	12/18	OMIM:615290
23299	BICD2	HP:0003327	Axial muscle weakness	3/11	OMIM:615290
23299	BICD2	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:363454
23299	BICD2	HP:0003307	Hyperlordosis	9/12	OMIM:615290
23299	BICD2	HP:0011808	Decreased patellar reflex	10/11	OMIM:615290
23299	BICD2	HP:0011800	Midface retrusion	-	OMIM:618291
23299	BICD2	HP:0002091	Restrictive ventilatory defect	1/18	OMIM:615290
23299	BICD2	HP:0002061	Lower limb spasticity	-	OMIM:615290
23299	BICD2	HP:0003391	Gowers sign	HP:0040282	ORPHA:363454
23299	BICD2	HP:0003391	Gowers sign	-	OMIM:615290
23299	BICD2	HP:0002079	Hypoplasia of the corpus callosum	1/2	OMIM:618291
23299	BICD2	HP:0003376	Steppage gait	3/18	OMIM:615290
23299	BICD2	HP:0009487	Ulnar deviation of the hand	1/2	OMIM:618291
23299	BICD2	HP:0003487	Babinski sign	5/18	OMIM:615290
23299	BICD2	HP:0002120	Cerebral cortical atrophy	-	OMIM:618291
23299	BICD2	HP:0002119	Ventriculomegaly	-	OMIM:618291
23299	BICD2	HP:0002136	Broad-based gait	7/18	OMIM:615290
23299	BICD2	HP:0010557	Overlapping fingers	-	OMIM:618291
23299	BICD2	HP:0003593	Infantile onset	2/12	OMIM:615290
23299	BICD2	HP:0003577	Congenital onset	-	OMIM:618291
23299	BICD2	HP:0003547	Shoulder girdle muscle weakness	HP:0040284	ORPHA:363454
23299	BICD2	HP:0011968	Feeding difficulties	1/2	OMIM:618291
23299	BICD2	HP:0002380	Fasciculations	2/12	OMIM:615290
23299	BICD2	HP:0003691	Scapular winging	11/12	OMIM:615290
23299	BICD2	HP:0003621	Juvenile onset	1/12	OMIM:615290
23299	BICD2	HP:0031846	Femur fracture	1/2	OMIM:618291
23299	BICD2	HP:0006829	Severe muscular hypotonia	-	OMIM:618291
23299	BICD2	HP:0009072	Decreased Achilles reflex	11/11	OMIM:615290
23299	BICD2	HP:0009053	Distal lower limb muscle weakness	2/11	OMIM:615290
23299	BICD2	HP:0009046	Difficulty running	-	OMIM:615290
23299	BICD2	HP:0012650	Perisylvian polymicrogyria	1/2	OMIM:618291
23299	BICD2	HP:0006956	Lateral ventricle dilatation	1/2	OMIM:618291
23299	BICD2	HP:0034197	Third trimester onset	1/2	OMIM:618291
23299	BICD2	HP:0034198	Second trimester onset	1/2	OMIM:618291
23299	BICD2	HP:0000767	Pectus excavatum	1/18	OMIM:615290
23299	BICD2	HP:0011463	Childhood onset	9/12	OMIM:615290
23299	BICD2	HP:0100309	Subdural hemorrhage	1/2	OMIM:618291
23299	BICD2	HP:0003236	Elevated circulating creatine kinase concentration	1/4	OMIM:615290
23299	BICD2	HP:0005853	Congenital foot contraction deformities	HP:0040282	ORPHA:363454
23299	BICD2	HP:0003202	Skeletal muscle atrophy	-	OMIM:618291
23299	BICD2	HP:0003298	Spina bifida occulta	1/2	OMIM:618291
23299	BICD2	HP:0003273	Hip contracture	2/18	OMIM:615290
23299	BICD2	HP:0000954	Single transverse palmar crease	1/2	OMIM:618291
23299	BICD2	HP:0000960	Sacral dimple	1/2	OMIM:618291
23299	BICD2	HP:0000256	Macrocephaly	1/2	OMIM:618291
23299	BICD2	HP:0005109	Abnormality of the Achilles tendon	HP:0040283	ORPHA:363454
23299	BICD2	HP:0002827	Hip dislocation	1/2	OMIM:618291
23299	BICD2	HP:0002828	Multiple joint contractures	2/2	OMIM:618291
23299	BICD2	HP:0002808	Kyphosis	1/18	OMIM:615290
23299	BICD2	HP:0002808	Kyphosis	-	OMIM:618291
23299	BICD2	HP:0002804	Arthrogryposis multiplex congenita	1/2	OMIM:618291
23299	BICD2	HP:0006380	Knee flexion contracture	3/18	OMIM:615290
23299	BICD2	HP:0002878	Respiratory failure	1/2	OMIM:618291
23299	BICD2	HP:0001561	Polyhydramnios	1/2	OMIM:618291
23299	BICD2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:363454
23299	BICD2	HP:0001558	Decreased fetal movement	1/2	OMIM:618291
23299	BICD2	HP:0002870	Obstructive sleep apnea	4/18	OMIM:615290
23299	BICD2	HP:0002871	Central apnea	1/2	OMIM:618291
23299	BICD2	HP:0030051	Tip-toe gait	-	OMIM:615290
23299	BICD2	HP:0000377	Abnormal pinna morphology	-	OMIM:618291
23299	BICD2	HP:0000347	Micrognathia	1/2	OMIM:618291
23299	BICD2	HP:0030237	Hand muscle weakness	HP:0040284	ORPHA:363454
23299	BICD2	HP:0001771	Achilles tendon contracture	10/18	OMIM:615290
23299	BICD2	HP:0001763	Pes planus	4/18	OMIM:615290
23299	BICD2	HP:0001762	Talipes equinovarus	-	OMIM:615290
23299	BICD2	HP:0001762	Talipes equinovarus	2/2	OMIM:618291
23299	BICD2	HP:0001761	Pes cavus	4/18	OMIM:615290
23299	BICD2	HP:0012510	Extra-axial cerebrospinal fluid accumulation	1/2	OMIM:618291
23308	ICOSLG	HP:0032301	Genital warts	1/1	OMIM:620825
23308	ICOSLG	HP:0031160	Myelokathexis	0/1	OMIM:620825
23308	ICOSLG	HP:0000007	Autosomal recessive inheritance	-	OMIM:620825
23308	ICOSLG	HP:0410028	Recurrent oral herpes	1/1	OMIM:620825
23308	ICOSLG	HP:0002090	Pneumonia	1/1	OMIM:620825
23308	ICOSLG	HP:0003453	Antineutrophil antibody positivity	0/1	OMIM:620825
23308	ICOSLG	HP:0004313	Decreased circulating immunoglobulin concentration	1/1	OMIM:620825
23308	ICOSLG	HP:0011463	Childhood onset	1/1	OMIM:620825
23308	ICOSLG	HP:0002863	Myelodysplasia	0/1	OMIM:620825
23308	ICOSLG	HP:0002837	Recurrent bronchitis	1/1	OMIM:620825
23308	ICOSLG	HP:0030318	Angular cheilitis	1/1	OMIM:620825
23308	ICOSLG	HP:0005387	Combined immunodeficiency	1/1	OMIM:620825
23308	ICOSLG	HP:0000403	Recurrent otitis media	1/1	OMIM:620825
23308	ICOSLG	HP:0011108	Recurrent sinusitis	1/1	OMIM:620825
23308	ICOSLG	HP:0001888	Decreased total lymphocyte count	1/1	OMIM:620825
23308	ICOSLG	HP:0030388	Decreased class-switched memory B cell proportion	1/1	OMIM:620825
23308	ICOSLG	HP:0001875	Decreased total neutrophil count	1/1	OMIM:620825
23309	SIN3B	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:500166
23309	SIN3B	HP:0001250	Seizure	HP:0040283	ORPHA:500166
23309	SIN3B	HP:0410263	Brain imaging abnormality	HP:0040281	ORPHA:500166
23309	SIN3B	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:500166
23309	SIN3B	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:500166
23309	SIN3B	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:500166
23309	SIN3B	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:500166
23309	SIN3B	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:500166
23309	SIN3B	HP:0002213	Fine hair	HP:0040283	ORPHA:500166
23309	SIN3B	HP:0032059	Mild malformation of cortical development	HP:0040282	ORPHA:500166
23309	SIN3B	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:500166
23309	SIN3B	HP:0006989	Dysplastic corpus callosum	HP:0040283	ORPHA:500166
23309	SIN3B	HP:0000736	Short attention span	HP:0040283	ORPHA:500166
23309	SIN3B	HP:0000729	Autistic behavior	HP:0040282	ORPHA:500166
23309	SIN3B	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:500166
23309	SIN3B	HP:0000924	Abnormality of the skeletal system	HP:0040282	ORPHA:500166
23309	SIN3B	HP:0040195	Decreased head circumference	HP:0040282	ORPHA:500166
23309	SIN3B	HP:0030084	Clinodactyly	HP:0040283	ORPHA:500166
23309	SIN3B	HP:0000365	Hearing impairment	HP:0040282	ORPHA:500166
23309	SIN3B	HP:0001808	Fragile nails	HP:0040283	ORPHA:500166
23310	NCAPD3	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
23310	NCAPD3	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
23310	NCAPD3	HP:0001250	Seizure	1/2	OMIM:617984
23310	NCAPD3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
23310	NCAPD3	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
23310	NCAPD3	HP:0002509	Limb hypertonia	1/2	OMIM:617984
23310	NCAPD3	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
23310	NCAPD3	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
23310	NCAPD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:617984
23310	NCAPD3	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
23310	NCAPD3	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
23310	NCAPD3	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
23310	NCAPD3	HP:0003593	Infantile onset	2/2	OMIM:617984
23310	NCAPD3	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
23310	NCAPD3	HP:0011343	Moderate global developmental delay	1/2	OMIM:617984
23310	NCAPD3	HP:0004322	Short stature	HP:0040281	ORPHA:2512
23310	NCAPD3	HP:0004322	Short stature	1/2	OMIM:617984
23310	NCAPD3	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
23310	NCAPD3	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
23310	NCAPD3	HP:0000252	Microcephaly	2/2	OMIM:617984
23310	NCAPD3	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
23310	NCAPD3	HP:0001518	Small for gestational age	1/2	OMIM:617984
23310	NCAPD3	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
23310	NCAPD3	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
23310	NCAPD3	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
23312	DMXL2	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0010851	EEG with burst suppression	6/6	OMIM:618663
23312	DMXL2	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:1934
23312	DMXL2	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0002421	Poor head control	HP:0040282	ORPHA:1934
23312	DMXL2	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0001271	Polyneuropathy	3/3	OMIM:616113
23312	DMXL2	HP:0001270	Motor delay	3/3	OMIM:616113
23312	DMXL2	HP:0001254	Lethargy	HP:0040282	ORPHA:1934
23312	DMXL2	HP:0001250	Seizure	HP:0040280	ORPHA:1934
23312	DMXL2	HP:0001251	Ataxia	3/3	OMIM:616113
23312	DMXL2	HP:0001251	Ataxia	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1934
23312	DMXL2	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0001260	Dysarthria	3/3	OMIM:616113
23312	DMXL2	HP:0001260	Dysarthria	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0001263	Global developmental delay	6/6	OMIM:618663
23312	DMXL2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1934
23312	DMXL2	HP:0001257	Spasticity	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0008734	Decreased testicular size	3/3	OMIM:616113
23312	DMXL2	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0031097	Abnormal thyroid-stimulating hormone level	0/3	OMIM:616113
23312	DMXL2	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:1934
23312	DMXL2	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0000070	Ureterocele	HP:0040284	ORPHA:1934
23312	DMXL2	HP:0000044	Hypogonadotropic hypogonadism	3/3	OMIM:616113
23312	DMXL2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0000054	Micropenis	HP:0040284	ORPHA:1934
23312	DMXL2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1934
23312	DMXL2	HP:0008897	Postnatal growth retardation	3/3	OMIM:616113
23312	DMXL2	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0001332	Dystonia	3/3	OMIM:616113
23312	DMXL2	HP:0001332	Dystonia	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0001332	Dystonia	HP:0040284	ORPHA:1934
23312	DMXL2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616113
23312	DMXL2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618663
23312	DMXL2	HP:0001337	Tremor	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617605
23312	DMXL2	HP:0001336	Myoclonus	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0001302	Pachygyria	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0001321	Cerebellar hypoplasia	1/3	OMIM:616113
23312	DMXL2	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:453533
23312	DMXL2	HP:0000175	Cleft palate	HP:0040284	ORPHA:1934
23312	DMXL2	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0008947	Floppy infant	HP:0040282	ORPHA:1934
23312	DMXL2	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:1934
23312	DMXL2	HP:0002033	Poor suck	HP:0040282	ORPHA:1934
23312	DMXL2	HP:0002015	Dysphagia	HP:0040282	ORPHA:1934
23312	DMXL2	HP:0005978	Type II diabetes mellitus	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0002058	Myopathic facies	4/6	OMIM:618663
23312	DMXL2	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:453533
23312	DMXL2	HP:0011787	Central hypothyroidism	3/3	OMIM:616113
23312	DMXL2	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:1934
23312	DMXL2	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0002187	Intellectual disability, profound	6/6	OMIM:618663
23312	DMXL2	HP:0002266	Focal clonic seizure	2/6	OMIM:618663
23312	DMXL2	HP:0003577	Congenital onset	-	OMIM:618663
23312	DMXL2	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1934
23312	DMXL2	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:1934
23312	DMXL2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1934
23312	DMXL2	HP:0010627	Anterior pituitary hypoplasia	HP:0040283	ORPHA:453533
23312	DMXL2	HP:0010627	Anterior pituitary hypoplasia	1/3	OMIM:616113
23312	DMXL2	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:1934
23312	DMXL2	HP:0002376	Developmental regression	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0003676	Progressive	-	OMIM:617605
23312	DMXL2	HP:0002342	Intellectual disability, moderate	3/3	OMIM:616113
23312	DMXL2	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1934
23312	DMXL2	HP:0100651	Type I diabetes mellitus	3/3	OMIM:616113
23312	DMXL2	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0010819	Atonic seizure	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0009830	Peripheral neuropathy	5/5	OMIM:618663
23312	DMXL2	HP:0007108	Demyelinating peripheral neuropathy	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0006829	Severe muscular hypotonia	6/6	OMIM:618663
23312	DMXL2	HP:0001943	Hypoglycemia	3/3	OMIM:616113
23312	DMXL2	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0004322	Short stature	3/3	OMIM:616113
23312	DMXL2	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0010174	Broad phalanx of the toes	HP:0040284	ORPHA:1934
23312	DMXL2	HP:0011463	Childhood onset	3/3	OMIM:616113
23312	DMXL2	HP:0004408	Abnormality of the sense of smell	0/3	OMIM:616113
23312	DMXL2	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1934
23312	DMXL2	HP:0040217	Elevated hemoglobin A1c	3/3	OMIM:616113
23312	DMXL2	HP:0040216	Hypoinsulinemia	HP:0040283	ORPHA:453533
23312	DMXL2	HP:0100287	EMG: slow motor conduction	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0040171	Decreased serum testosterone concentration	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0009381	Short finger	HP:0040284	ORPHA:1934
23312	DMXL2	HP:0000286	Epicanthus	6/6	OMIM:618663
23312	DMXL2	HP:0001596	Alopecia	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0000268	Dolichocephaly	2/6	OMIM:618663
23312	DMXL2	HP:0000252	Microcephaly	HP:0040284	ORPHA:1934
23312	DMXL2	HP:0000218	High palate	4/6	OMIM:618663
23312	DMXL2	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1934
23312	DMXL2	HP:0001508	Failure to thrive	HP:0040284	ORPHA:1934
23312	DMXL2	HP:0001500	Broad finger	HP:0040284	ORPHA:1934
23312	DMXL2	HP:0000340	Sloping forehead	HP:0040284	ORPHA:1934
23312	DMXL2	HP:0000350	Small forehead	4/6	OMIM:618663
23312	DMXL2	HP:0032792	Tonic seizure	3/6	OMIM:618663
23312	DMXL2	HP:0032794	Myoclonic seizure	3/6	OMIM:618663
23312	DMXL2	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:1934
23312	DMXL2	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:1934
23312	DMXL2	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:1934
23312	DMXL2	HP:0000407	Sensorineural hearing impairment	11/11	OMIM:617605
23312	DMXL2	HP:0000407	Sensorineural hearing impairment	5/6	OMIM:618663
23312	DMXL2	HP:0001730	Progressive hearing impairment	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0001730	Progressive hearing impairment	1/3	OMIM:616113
23312	DMXL2	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:1934
23312	DMXL2	HP:0000486	Strabismus	HP:0040284	ORPHA:1934
23312	DMXL2	HP:0012469	Infantile spasms	5/6	OMIM:618663
23312	DMXL2	HP:0012469	Infantile spasms	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0000494	Downslanted palpebral fissures	6/6	OMIM:618663
23312	DMXL2	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1934
23312	DMXL2	HP:0012448	Delayed myelination	HP:0040283	ORPHA:1934
23312	DMXL2	HP:0011120	Concave nasal ridge	4/6	OMIM:618663
23312	DMXL2	HP:0001751	Abnormal vestibular function	0/11	OMIM:617605
23312	DMXL2	HP:0001761	Pes cavus	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0030344	Decreased circulating luteinizing hormone level	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0030341	Decreased circulating follicle stimulating hormone concentration	HP:0040282	ORPHA:453533
23312	DMXL2	HP:0012554	Absent thumbnail	HP:0040284	ORPHA:1934
23314	SATB2	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:576283
23314	SATB2	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:251019
23314	SATB2	HP:0001166	Arachnodactyly	-	OMIM:612313
23314	SATB2	HP:0002465	Poor speech	HP:0040283	ORPHA:576283
23314	SATB2	HP:0025161	Frequent temper tantrums	1/1	OMIM:612313
23314	SATB2	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:576283
23314	SATB2	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:251028
23314	SATB2	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:251019
23314	SATB2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
23314	SATB2	HP:0001293	Cranial nerve compression	-	OMIM:131300
23314	SATB2	HP:0001276	Hypertonia	HP:0040283	ORPHA:251028
23314	SATB2	HP:0001250	Seizure	HP:0040283	ORPHA:576283
23314	SATB2	HP:0001250	Seizure	HP:0040283	ORPHA:251028
23314	SATB2	HP:0001250	Seizure	-	OMIM:612313
23314	SATB2	HP:0001252	Hypotonia	HP:0040282	ORPHA:251028
23314	SATB2	HP:0001252	Hypotonia	HP:0040282	ORPHA:251019
23314	SATB2	HP:0001252	Hypotonia	1/1	OMIM:612313
23314	SATB2	HP:0001252	Hypotonia	2/7	OMIM:615777
23314	SATB2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:576283
23314	SATB2	HP:0001249	Intellectual disability	-	OMIM:612313
23314	SATB2	HP:0001249	Intellectual disability	5/7	OMIM:615777
23314	SATB2	HP:0002591	Polyphagia	HP:0040283	ORPHA:251028
23314	SATB2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:576283
23314	SATB2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:251028
23314	SATB2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:251019
23314	SATB2	HP:0001263	Global developmental delay	1/1	OMIM:612313
23314	SATB2	HP:0001263	Global developmental delay	-	OMIM:615777
23314	SATB2	HP:0001238	Slender finger	HP:0040283	ORPHA:251028
23314	SATB2	HP:0100886	Abnormality of globe location	HP:0040283	ORPHA:576283
23314	SATB2	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:251028
23314	SATB2	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:251019
23314	SATB2	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:576283
23314	SATB2	HP:0002546	Incomprehensible speech	HP:0040283	ORPHA:251019
23314	SATB2	HP:0002515	Waddling gait	54/102	OMIM:131300
23314	SATB2	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:576283
23314	SATB2	HP:0000054	Micropenis	HP:0040283	ORPHA:251028
23314	SATB2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:576283
23314	SATB2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:251019
23314	SATB2	HP:0001382	Joint hypermobility	-	OMIM:615777
23314	SATB2	HP:0000023	Inguinal hernia	-	OMIM:612313
23314	SATB2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
23314	SATB2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:251028
23314	SATB2	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:576283
23314	SATB2	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:251028
23314	SATB2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
23314	SATB2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:576283
23314	SATB2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:251028
23314	SATB2	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:251028
23314	SATB2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
23314	SATB2	HP:0001324	Muscle weakness	40/96	OMIM:131300
23314	SATB2	HP:0001344	Absent speech	HP:0040282	ORPHA:576283
23314	SATB2	HP:0001344	Absent speech	HP:0040281	ORPHA:251028
23314	SATB2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
23314	SATB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
23314	SATB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
23314	SATB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:612313
23314	SATB2	HP:0002650	Scoliosis	12/14	OMIM:131300
23314	SATB2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
23314	SATB2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
23314	SATB2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
23314	SATB2	HP:0002608	Celiac disease	HP:0040283	ORPHA:576283
23314	SATB2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
23314	SATB2	HP:0000193	Bifid uvula	HP:0040283	ORPHA:576283
23314	SATB2	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:576283
23314	SATB2	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:251028
23314	SATB2	HP:0000160	Narrow mouth	-	OMIM:612313
23314	SATB2	HP:0000160	Narrow mouth	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000160	Narrow mouth	HP:0040283	ORPHA:251019
23314	SATB2	HP:0000175	Cleft palate	HP:0040282	ORPHA:576283
23314	SATB2	HP:0000175	Cleft palate	HP:0040282	ORPHA:251028
23314	SATB2	HP:0000175	Cleft palate	HP:0040282	ORPHA:251019
23314	SATB2	HP:0000175	Cleft palate	2/2	OMIM:612313
23314	SATB2	HP:0000175	Cleft palate	2/7	OMIM:615777
23314	SATB2	HP:0006349	Agenesis of permanent teeth	HP:0040283	ORPHA:251028
23314	SATB2	HP:0008947	Floppy infant	HP:0040282	ORPHA:576283
23314	SATB2	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:251028
23314	SATB2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:576283
23314	SATB2	HP:0002033	Poor suck	1/1	OMIM:612313
23314	SATB2	HP:0002015	Dysphagia	HP:0040283	ORPHA:576283
23314	SATB2	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:251028
23314	SATB2	HP:0002007	Frontal bossing	HP:0040283	ORPHA:251028
23314	SATB2	HP:0002007	Frontal bossing	-	OMIM:612313
23314	SATB2	HP:0011800	Midface retrusion	-	OMIM:612313
23314	SATB2	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:576283
23314	SATB2	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:612313
23314	SATB2	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:251028
23314	SATB2	HP:0003388	Easy fatigability	36/76	OMIM:131300
23314	SATB2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
23314	SATB2	HP:0002136	Broad-based gait	HP:0040283	ORPHA:251028
23314	SATB2	HP:0002136	Broad-based gait	-	OMIM:612313
23314	SATB2	HP:0002104	Apnea	1/1	OMIM:612313
23314	SATB2	HP:0002164	Nail dysplasia	-	OMIM:612313
23314	SATB2	HP:0003593	Infantile onset	1/1	OMIM:612313
23314	SATB2	HP:0003577	Congenital onset	1/1	OMIM:612313
23314	SATB2	HP:0002213	Fine hair	HP:0040283	ORPHA:251028
23314	SATB2	HP:0002213	Fine hair	HP:0040282	ORPHA:251019
23314	SATB2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:576283
23314	SATB2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:251019
23314	SATB2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:251019
23314	SATB2	HP:0003510	Severe short stature	7/7	OMIM:615777
23314	SATB2	HP:0020045	Esodeviation	HP:0040283	ORPHA:251028
23314	SATB2	HP:0002360	Sleep abnormality	1/1	OMIM:612313
23314	SATB2	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:576283
23314	SATB2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:251019
23314	SATB2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/1	OMIM:612313
23314	SATB2	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:576283
23314	SATB2	HP:0002315	Headache	-	OMIM:131300
23314	SATB2	HP:0004976	Knee dislocation	6/7	OMIM:615777
23314	SATB2	HP:0009803	Short phalanx of finger	-	OMIM:615777
23314	SATB2	HP:0200055	Small hand	HP:0040283	ORPHA:251028
23314	SATB2	HP:0009763	Limb pain	63/92	OMIM:131300
23314	SATB2	HP:0002307	Drooling	HP:0040282	ORPHA:251028
23314	SATB2	HP:0002307	Drooling	HP:0040282	ORPHA:576283
23314	SATB2	HP:0003621	Juvenile onset	-	OMIM:131300
23314	SATB2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
23314	SATB2	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:576283
23314	SATB2	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:251028
23314	SATB2	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:251019
23314	SATB2	HP:0010059	Broad hallux phalanx	HP:0040283	ORPHA:251019
23314	SATB2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
23314	SATB2	HP:6001056	Out-toeing	-	OMIM:131300
23314	SATB2	HP:0000651	Diplopia	-	OMIM:131300
23314	SATB2	HP:0001956	Truncal obesity	2/7	OMIM:615777
23314	SATB2	HP:0000620	Dacryocystitis	HP:0040283	ORPHA:251028
23314	SATB2	HP:0001903	Anemia	HP:0040283	OMIM:131300
23314	SATB2	HP:0010049	Short metacarpal	-	OMIM:615777
23314	SATB2	HP:0010055	Broad hallux	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000698	Conical tooth	-	OMIM:612313
23314	SATB2	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:251028
23314	SATB2	HP:0011339	Abnormality of upper lip vermillion	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000678	Dental crowding	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000678	Dental crowding	HP:0040282	ORPHA:251019
23314	SATB2	HP:0000678	Dental crowding	-	OMIM:615777
23314	SATB2	HP:0000678	Dental crowding	1/1	OMIM:612313
23314	SATB2	HP:0000677	Oligodontia	HP:0040283	ORPHA:251019
23314	SATB2	HP:0000677	Oligodontia	-	OMIM:612313
23314	SATB2	HP:0000691	Microdontia	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000670	Carious teeth	-	OMIM:131300
23314	SATB2	HP:0011304	Broad thumb	HP:0040283	ORPHA:251028
23314	SATB2	HP:0011304	Broad thumb	HP:0040283	ORPHA:251019
23314	SATB2	HP:0011304	Broad thumb	2/7	OMIM:615777
23314	SATB2	HP:0011304	Broad thumb	HP:0040282	ORPHA:576283
23314	SATB2	HP:0000668	Hypodontia	-	OMIM:615777
23314	SATB2	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:576283
23314	SATB2	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:251028
23314	SATB2	HP:0000664	Synophrys	-	OMIM:615777
23314	SATB2	HP:0004322	Short stature	HP:0040281	ORPHA:251019
23314	SATB2	HP:0004322	Short stature	-	OMIM:612313
23314	SATB2	HP:0004396	Poor appetite	-	OMIM:131300
23314	SATB2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
23314	SATB2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
23314	SATB2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
23314	SATB2	HP:0003026	Short long bone	7/7	OMIM:615777
23314	SATB2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
23314	SATB2	HP:0000752	Hyperactivity	-	OMIM:612313
23314	SATB2	HP:0100024	Conspicuously happy disposition	HP:0040283	ORPHA:251019
23314	SATB2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
23314	SATB2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
23314	SATB2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
23314	SATB2	HP:0000739	Anxiety	HP:0040283	ORPHA:251019
23314	SATB2	HP:0000750	Delayed speech and language development	1/1	OMIM:612313
23314	SATB2	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:251019
23314	SATB2	HP:0000750	Delayed speech and language development	-	OMIM:615777
23314	SATB2	HP:0000742	Self-mutilation	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000718	Aggressive behavior	-	OMIM:612313
23314	SATB2	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:251028
23314	SATB2	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:251019
23314	SATB2	HP:0000717	Autism	HP:0040283	ORPHA:251019
23314	SATB2	HP:0000712	Emotional lability	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000711	Restlessness	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000711	Restlessness	1/1	OMIM:612313
23314	SATB2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:576283
23314	SATB2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:576283
23314	SATB2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:251028
23314	SATB2	HP:0011470	Nasogastric tube feeding in infancy	HP:0040282	ORPHA:251028
23314	SATB2	HP:0011461	Fetal onset	7/7	OMIM:615777
23314	SATB2	HP:0000774	Narrow chest	2/7	OMIM:615777
23314	SATB2	HP:0003196	Short nose	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000924	Abnormality of the skeletal system	HP:0040282	ORPHA:576283
23314	SATB2	HP:0000926	Platyspondyly	1/7	OMIM:615777
23314	SATB2	HP:0003189	Long nose	-	OMIM:612313
23314	SATB2	HP:0003180	Flat acetabular roof	-	OMIM:615777
23314	SATB2	HP:0004482	Relative macrocephaly	HP:0040283	ORPHA:251028
23314	SATB2	HP:0004482	Relative macrocephaly	-	OMIM:615777
23314	SATB2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
23314	SATB2	HP:0000823	Delayed puberty	-	OMIM:131300
23314	SATB2	HP:0040082	Happy demeanor	HP:0040282	ORPHA:576283
23314	SATB2	HP:0040082	Happy demeanor	1/1	OMIM:612313
23314	SATB2	HP:0000894	Short clavicles	-	OMIM:615777
23314	SATB2	HP:0003241	External genital hypoplasia	HP:0040283	ORPHA:251028
23314	SATB2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
23314	SATB2	HP:0003272	Abnormal hip bone morphology	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
23314	SATB2	HP:0000951	Abnormality of the skin	HP:0040283	ORPHA:576283
23314	SATB2	HP:0000963	Thin skin	-	OMIM:612313
23314	SATB2	HP:0000938	Osteopenia	HP:0040282	ORPHA:576283
23314	SATB2	HP:0000938	Osteopenia	HP:0040283	ORPHA:251028
23314	SATB2	HP:0040160	Generalized osteoporosis	1/1	OMIM:612313
23314	SATB2	HP:0008070	Sparse hair	-	OMIM:612313
23314	SATB2	HP:0008070	Sparse hair	HP:0040282	ORPHA:251028
23314	SATB2	HP:0008070	Sparse hair	HP:0040283	ORPHA:251019
23314	SATB2	HP:0000286	Epicanthus	1/7	OMIM:615777
23314	SATB2	HP:0000280	Coarse facial features	2/7	OMIM:615777
23314	SATB2	HP:0000297	Facial hypotonia	1/1	OMIM:612313
23314	SATB2	HP:0000256	Macrocephaly	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000275	Narrow face	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000276	Long face	-	OMIM:612313
23314	SATB2	HP:0000276	Long face	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000276	Long face	HP:0040283	ORPHA:251019
23314	SATB2	HP:0000272	Malar flattening	-	OMIM:612313
23314	SATB2	HP:0002815	Abnormality of the knee	HP:0040283	ORPHA:251028
23314	SATB2	HP:0002827	Hip dislocation	3/7	OMIM:615777
23314	SATB2	HP:0006390	Anterior tibial bowing	1/1	OMIM:612313
23314	SATB2	HP:0000252	Microcephaly	HP:0040282	ORPHA:251028
23314	SATB2	HP:0000252	Microcephaly	HP:0040283	ORPHA:251019
23314	SATB2	HP:0000252	Microcephaly	-	OMIM:612313
23314	SATB2	HP:0000252	Microcephaly	-	OMIM:615777
23314	SATB2	HP:0000248	Brachycephaly	HP:0040283	ORPHA:251019
23314	SATB2	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:576283
23314	SATB2	HP:0000218	High palate	-	OMIM:612313
23314	SATB2	HP:0000218	High palate	HP:0040283	ORPHA:576283
23314	SATB2	HP:0000218	High palate	HP:0040282	ORPHA:251028
23314	SATB2	HP:0000218	High palate	HP:0040282	ORPHA:251019
23314	SATB2	HP:0000212	Gingival overgrowth	1/1	OMIM:612313
23314	SATB2	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:251019
23314	SATB2	HP:0002857	Genu valgum	-	OMIM:131300
23314	SATB2	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:251028
23314	SATB2	HP:0001533	Slender build	-	OMIM:131300
23314	SATB2	HP:0000201	Pierre-Robin sequence	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000201	Pierre-Robin sequence	1/1	OMIM:612313
23314	SATB2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
23314	SATB2	HP:0001510	Growth delay	HP:0040283	ORPHA:576283
23314	SATB2	HP:0001510	Growth delay	HP:0040282	ORPHA:251019
23314	SATB2	HP:0007807	Optic nerve compression	-	OMIM:131300
23314	SATB2	HP:0012385	Camptodactyly	-	OMIM:612313
23314	SATB2	HP:0012368	Flat face	7/7	OMIM:615777
23314	SATB2	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:251028
23314	SATB2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
23314	SATB2	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:576283
23314	SATB2	HP:0000365	Hearing impairment	10/67	OMIM:131300
23314	SATB2	HP:0000356	Abnormality of the outer ear	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000358	Posteriorly rotated ears	1/1	OMIM:612313
23314	SATB2	HP:0000369	Low-set ears	1/1	OMIM:612313
23314	SATB2	HP:0000369	Low-set ears	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000369	Low-set ears	HP:0040282	ORPHA:251019
23314	SATB2	HP:0000343	Long philtrum	HP:0040282	ORPHA:576283
23314	SATB2	HP:0000343	Long philtrum	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000343	Long philtrum	HP:0040283	ORPHA:251019
23314	SATB2	HP:0000343	Long philtrum	1/1	OMIM:612313
23314	SATB2	HP:0000343	Long philtrum	1/7	OMIM:615777
23314	SATB2	HP:0011001	Increased bone mineral density	-	OMIM:131300
23314	SATB2	HP:0000337	Broad forehead	1/1	OMIM:612313
23314	SATB2	HP:0000348	High forehead	-	OMIM:612313
23314	SATB2	HP:0000348	High forehead	HP:0040282	ORPHA:251028
23314	SATB2	HP:0000348	High forehead	HP:0040282	ORPHA:251019
23314	SATB2	HP:0000347	Micrognathia	3/3	OMIM:612313
23314	SATB2	HP:0000347	Micrognathia	HP:0040282	ORPHA:576283
23314	SATB2	HP:0000347	Micrognathia	HP:0040282	ORPHA:251028
23314	SATB2	HP:0000347	Micrognathia	HP:0040282	ORPHA:251019
23314	SATB2	HP:0002982	Tibial bowing	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000319	Smooth philtrum	-	OMIM:612313
23314	SATB2	HP:0000319	Smooth philtrum	HP:0040282	ORPHA:576283
23314	SATB2	HP:0000311	Round face	2/7	OMIM:615777
23314	SATB2	HP:0000322	Short philtrum	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:576283
23314	SATB2	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:251019
23314	SATB2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:251028
23314	SATB2	HP:0002970	Genu varum	-	OMIM:615777
23314	SATB2	HP:0000303	Mandibular prognathia	-	OMIM:131300
23314	SATB2	HP:0011147	Typical absence seizure	HP:0040283	ORPHA:576283
23314	SATB2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
23314	SATB2	HP:0000486	Strabismus	HP:0040283	ORPHA:576283
23314	SATB2	HP:0000486	Strabismus	HP:0040283	ORPHA:251019
23314	SATB2	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:251019
23314	SATB2	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:612313
23314	SATB2	HP:0000490	Deeply set eye	HP:0040282	ORPHA:576283
23314	SATB2	HP:0000490	Deeply set eye	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000463	Anteverted nares	HP:0040283	ORPHA:251019
23314	SATB2	HP:0000463	Anteverted nares	1/1	OMIM:612313
23314	SATB2	HP:0000460	Narrow nose	-	OMIM:612313
23314	SATB2	HP:0012448	Delayed myelination	HP:0040282	ORPHA:576283
23314	SATB2	HP:0000455	Broad nasal tip	1/1	OMIM:612313
23314	SATB2	HP:0000470	Short neck	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000470	Short neck	1/7	OMIM:615777
23314	SATB2	HP:0001773	Short foot	HP:0040283	ORPHA:251028
23314	SATB2	HP:0001773	Short foot	HP:0040283	ORPHA:576283
23314	SATB2	HP:0012428	Prominent calcaneus	HP:0040283	ORPHA:251028
23314	SATB2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
23314	SATB2	HP:0001763	Pes planus	1/7	OMIM:615777
23314	SATB2	HP:0000444	Convex nasal ridge	HP:0040283	ORPHA:251028
23314	SATB2	HP:0000444	Convex nasal ridge	HP:0040283	ORPHA:251019
23314	SATB2	HP:0000445	Wide nose	HP:0040283	ORPHA:251028
23314	SATB2	HP:0001776	Bilateral talipes equinovarus	HP:0040282	ORPHA:251028
23314	SATB2	HP:0000414	Bulbous nose	-	OMIM:612313
23314	SATB2	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:251028
23314	SATB2	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:251019
23314	SATB2	HP:0001762	Talipes equinovarus	-	OMIM:612313
23314	SATB2	HP:0000426	Prominent nasal bridge	-	OMIM:612313
23314	SATB2	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:251028
23314	SATB2	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:251019
23314	SATB2	HP:0005469	Flat occiput	HP:0040283	ORPHA:251028
23314	SATB2	HP:0001840	Metatarsus adductus	-	OMIM:615777
23314	SATB2	HP:0000527	Long eyelashes	1/1	OMIM:612313
23314	SATB2	HP:0000520	Proptosis	2/4	OMIM:131300
23314	SATB2	HP:0000520	Proptosis	7/7	OMIM:615777
23314	SATB2	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:576283
23314	SATB2	HP:0000592	Blue sclerae	2/7	OMIM:615777
23314	SATB2	HP:0000589	Coloboma	HP:0040283	ORPHA:251028
23314	SATB2	HP:0011220	Prominent forehead	HP:0040282	ORPHA:251028
23314	SATB2	HP:0000540	Hypermetropia	HP:0040282	ORPHA:251028
23314	SATB2	HP:0001863	Toe clinodactyly	HP:0040283	ORPHA:251019
23314	SATB2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
23314	SATB2	HP:0012514	Lower limb pain	4/4	OMIM:131300
23316	CUX2	HP:0007270	Atypical absence seizure	HP:0040282	ORPHA:2382
23316	CUX2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2382
23316	CUX2	HP:0001272	Cerebellar atrophy	1/9	OMIM:618141
23316	CUX2	HP:0001268	Mental deterioration	HP:0040282	ORPHA:2382
23316	CUX2	HP:0001288	Gait disturbance	-	OMIM:618141
23316	CUX2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2382
23316	CUX2	HP:0001249	Intellectual disability	8/8	OMIM:618141
23316	CUX2	HP:0001263	Global developmental delay	9/9	OMIM:618141
23316	CUX2	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:2382
23316	CUX2	HP:0002521	Hypsarrhythmia	1/9	OMIM:618141
23316	CUX2	HP:0002527	Falls	HP:0040282	ORPHA:2382
23316	CUX2	HP:0012075	Personality disorder	HP:0040282	ORPHA:2382
23316	CUX2	HP:0001332	Dystonia	1/9	OMIM:618141
23316	CUX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618141
23316	CUX2	HP:0001336	Myoclonus	HP:0040282	ORPHA:2382
23316	CUX2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:2382
23316	CUX2	HP:0002069	Bilateral tonic-clonic seizure	5/9	OMIM:618141
23316	CUX2	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:2382
23316	CUX2	HP:0002123	Generalized myoclonic seizure	6/9	OMIM:618141
23316	CUX2	HP:0002121	Generalized non-motor (absence) seizure	5/9	OMIM:618141
23316	CUX2	HP:0003593	Infantile onset	6/9	OMIM:618141
23316	CUX2	HP:0200134	Epileptic encephalopathy	-	OMIM:618141
23316	CUX2	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:2382
23316	CUX2	HP:0002376	Developmental regression	HP:0040283	ORPHA:2382
23316	CUX2	HP:0002376	Developmental regression	2/9	OMIM:618141
23316	CUX2	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2382
23316	CUX2	HP:0002353	EEG abnormality	9/9	OMIM:618141
23316	CUX2	HP:0002321	Vertigo	HP:0040283	ORPHA:2382
23316	CUX2	HP:0100660	Dyskinesia	1/9	OMIM:618141
23316	CUX2	HP:0010819	Atonic seizure	1/9	OMIM:618141
23316	CUX2	HP:0010819	Atonic seizure	HP:0040282	ORPHA:2382
23316	CUX2	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:2382
23316	CUX2	HP:0002305	Athetosis	1/9	OMIM:618141
23316	CUX2	HP:0006813	Focal hemiclonic seizure	1/9	OMIM:618141
23316	CUX2	HP:0000752	Hyperactivity	HP:0040282	ORPHA:2382
23316	CUX2	HP:0100023	Recurrent hand flapping	3/9	OMIM:618141
23316	CUX2	HP:0000737	Irritability	HP:0040282	ORPHA:2382
23316	CUX2	HP:0000741	Apathy	HP:0040283	ORPHA:2382
23316	CUX2	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:2382
23316	CUX2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:2382
23316	CUX2	HP:0000709	Psychosis	HP:0040283	ORPHA:2382
23316	CUX2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2382
23316	CUX2	HP:0011463	Childhood onset	3/9	OMIM:618141
23316	CUX2	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:2382
23316	CUX2	HP:0000817	Reduced eye contact	1/9	OMIM:618141
23316	CUX2	HP:0032792	Tonic seizure	3/9	OMIM:618141
23316	CUX2	HP:0011195	EEG with focal sharp slow waves	HP:0040281	ORPHA:2382
23317	DNAJC13	HP:0001268	Mental deterioration	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	HP:0040282	ORPHA:411602
23317	DNAJC13	HP:0001332	Dystonia	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0001300	Parkinsonism	HP:0040280	ORPHA:411602
23317	DNAJC13	HP:0002015	Dysphagia	HP:0040282	ORPHA:411602
23317	DNAJC13	HP:0002067	Bradykinesia	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0003394	Muscle spasm	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0002063	Rigidity	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0002171	Gliosis	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0002172	Postural instability	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0100710	Impulsivity	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0100753	Schizophrenia	HP:0040284	ORPHA:411602
23317	DNAJC13	HP:0002367	Visual hallucination	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0002362	Shuffling gait	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0002359	Frequent falls	HP:0040282	ORPHA:411602
23317	DNAJC13	HP:0002322	Resting tremor	HP:0040282	ORPHA:411602
23317	DNAJC13	HP:0100660	Dyskinesia	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0002304	Akinesia	HP:0040282	ORPHA:411602
23317	DNAJC13	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0000651	Diplopia	HP:0040282	ORPHA:411602
23317	DNAJC13	HP:0000744	Low frustration tolerance	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0000741	Apathy	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0000716	Depression	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0000713	Agitation	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0000726	Dementia	HP:0040284	ORPHA:411602
23317	DNAJC13	HP:0004409	Hyposmia	HP:0040282	ORPHA:411602
23317	DNAJC13	HP:0100315	Lewy bodies	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0031435	Monotonic speech	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0000338	Hypomimic face	HP:0040283	ORPHA:411602
23317	DNAJC13	HP:0005340	Spastic/hyperactive bladder	HP:0040282	ORPHA:411602
23317	DNAJC13	HP:0012450	Chronic constipation	HP:0040282	ORPHA:411602
23317	DNAJC13	HP:0001824	Weight loss	HP:0040283	ORPHA:411602
23321	TRIM2	HP:0001284	Areflexia	1/1	OMIM:615490
23321	TRIM2	HP:0001252	Hypotonia	1/1	OMIM:615490
23321	TRIM2	HP:0002540	Inability to walk	-	OMIM:615490
23321	TRIM2	HP:0001324	Muscle weakness	1/1	OMIM:615490
23321	TRIM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615490
23321	TRIM2	HP:0008954	Intrinsic hand muscle atrophy	1/1	OMIM:615490
23321	TRIM2	HP:0002779	Tracheomalacia	-	OMIM:615490
23321	TRIM2	HP:0002093	Respiratory insufficiency	-	OMIM:615490
23321	TRIM2	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:615490
23321	TRIM2	HP:0003477	Peripheral axonal neuropathy	-	OMIM:615490
23321	TRIM2	HP:0002136	Broad-based gait	-	OMIM:615490
23321	TRIM2	HP:0003431	Decreased motor nerve conduction velocity	1/1	OMIM:615490
23321	TRIM2	HP:0003593	Infantile onset	1/1	OMIM:615490
23321	TRIM2	HP:0031936	Delayed ability to walk	1/1	OMIM:615490
23321	TRIM2	HP:0003199	Decreased muscle mass	-	OMIM:615490
23321	TRIM2	HP:0040078	Axonal degeneration	-	OMIM:615490
23321	TRIM2	HP:0006380	Knee flexion contracture	-	OMIM:615490
23321	TRIM2	HP:0001605	Vocal cord paralysis	-	OMIM:615490
23321	TRIM2	HP:0001762	Talipes equinovarus	-	OMIM:615490
23321	TRIM2	HP:0001761	Pes cavus	1/1	OMIM:615490
23322	RPGRIP1L	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0001162	Postaxial hand polydactyly	3/3	OMIM:611561
23322	RPGRIP1L	HP:0001162	Postaxial hand polydactyly	-	OMIM:611560
23322	RPGRIP1L	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:564
23322	RPGRIP1L	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
23322	RPGRIP1L	HP:0003774	Stage 5 chronic kidney disease	6/7	OMIM:611560
23322	RPGRIP1L	HP:0003774	Stage 5 chronic kidney disease	2/2	OMIM:619113
23322	RPGRIP1L	HP:0002419	Molar tooth sign on MRI	2/2	OMIM:619113
23322	RPGRIP1L	HP:0002419	Molar tooth sign on MRI	HP:0040281	ORPHA:220497
23322	RPGRIP1L	HP:0002419	Molar tooth sign on MRI	5/6	OMIM:611560
23322	RPGRIP1L	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
23322	RPGRIP1L	HP:0001293	Cranial nerve compression	-	OMIM:131300
23322	RPGRIP1L	HP:0001290	Generalized hypotonia	2/2	OMIM:619113
23322	RPGRIP1L	HP:0001290	Generalized hypotonia	-	OMIM:611560
23322	RPGRIP1L	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0001273	Abnormal corpus callosum morphology	-	OMIM:611560
23322	RPGRIP1L	HP:0001288	Gait disturbance	HP:0040282	ORPHA:220497
23322	RPGRIP1L	HP:0001288	Gait disturbance	HP:0040282	ORPHA:1454
23322	RPGRIP1L	HP:0001250	Seizure	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0001250	Seizure	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0001252	Hypotonia	HP:0040281	ORPHA:220497
23322	RPGRIP1L	HP:0001252	Hypotonia	HP:0040281	ORPHA:1454
23322	RPGRIP1L	HP:0001252	Hypotonia	2/7	OMIM:615777
23322	RPGRIP1L	HP:0001251	Ataxia	HP:0040281	ORPHA:220497
23322	RPGRIP1L	HP:0001251	Ataxia	HP:0040281	ORPHA:1454
23322	RPGRIP1L	HP:0001251	Ataxia	2/2	OMIM:619113
23322	RPGRIP1L	HP:0001251	Ataxia	7/7	OMIM:611560
23322	RPGRIP1L	HP:0001249	Intellectual disability	HP:0040281	ORPHA:220497
23322	RPGRIP1L	HP:0001249	Intellectual disability	6/7	OMIM:611560
23322	RPGRIP1L	HP:0001249	Intellectual disability	5/7	OMIM:615777
23322	RPGRIP1L	HP:0001263	Global developmental delay	HP:0040281	ORPHA:220497
23322	RPGRIP1L	HP:0001263	Global developmental delay	2/2	OMIM:619113
23322	RPGRIP1L	HP:0001263	Global developmental delay	-	OMIM:611560
23322	RPGRIP1L	HP:0001263	Global developmental delay	-	OMIM:615777
23322	RPGRIP1L	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:1454
23322	RPGRIP1L	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0002515	Waddling gait	54/102	OMIM:131300
23322	RPGRIP1L	HP:0002508	Brainstem dysplasia	-	OMIM:611560
23322	RPGRIP1L	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0000083	Renal insufficiency	2/2	OMIM:619113
23322	RPGRIP1L	HP:0000090	Nephronophthisis	2/2	OMIM:619113
23322	RPGRIP1L	HP:0000090	Nephronophthisis	6/7	OMIM:611560
23322	RPGRIP1L	HP:0000092	Renal tubular atrophy	2/2	OMIM:619113
23322	RPGRIP1L	HP:0000068	Urethral atresia	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0001394	Cirrhosis	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0001382	Joint hypermobility	-	OMIM:615777
23322	RPGRIP1L	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1454
23322	RPGRIP1L	HP:0002694	Sclerosis of skull base	-	OMIM:131300
23322	RPGRIP1L	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0008897	Postnatal growth retardation	-	OMIM:615777
23322	RPGRIP1L	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:1454
23322	RPGRIP1L	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
23322	RPGRIP1L	HP:0001324	Muscle weakness	40/96	OMIM:131300
23322	RPGRIP1L	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
23322	RPGRIP1L	HP:0000007	Autosomal recessive inheritance	-	OMIM:611561
23322	RPGRIP1L	HP:0000007	Autosomal recessive inheritance	-	OMIM:611560
23322	RPGRIP1L	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
23322	RPGRIP1L	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
23322	RPGRIP1L	HP:0000007	Autosomal recessive inheritance	-	OMIM:619113
23322	RPGRIP1L	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:564
23322	RPGRIP1L	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0001337	Tremor	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0001337	Tremor	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
23322	RPGRIP1L	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
23322	RPGRIP1L	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:220497
23322	RPGRIP1L	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:1454
23322	RPGRIP1L	HP:0002650	Scoliosis	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0002650	Scoliosis	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0002650	Scoliosis	3/7	OMIM:611560
23322	RPGRIP1L	HP:0002650	Scoliosis	12/14	OMIM:131300
23322	RPGRIP1L	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
23322	RPGRIP1L	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:564
23322	RPGRIP1L	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:1454
23322	RPGRIP1L	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
23322	RPGRIP1L	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
23322	RPGRIP1L	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
23322	RPGRIP1L	HP:0000175	Cleft palate	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0000175	Cleft palate	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0000175	Cleft palate	3/3	OMIM:611561
23322	RPGRIP1L	HP:0000175	Cleft palate	2/7	OMIM:615777
23322	RPGRIP1L	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
23322	RPGRIP1L	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
23322	RPGRIP1L	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:220497
23322	RPGRIP1L	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:1454
23322	RPGRIP1L	HP:0002790	Neonatal breathing dysregulation	-	OMIM:611560
23322	RPGRIP1L	HP:0002789	Tachypnea	-	OMIM:611560
23322	RPGRIP1L	HP:0000112	Nephropathy	HP:0040281	ORPHA:220497
23322	RPGRIP1L	HP:0000112	Nephropathy	HP:0040282	ORPHA:1454
23322	RPGRIP1L	HP:0000107	Renal cyst	3/3	OMIM:611561
23322	RPGRIP1L	HP:0000107	Renal cyst	-	OMIM:611560
23322	RPGRIP1L	HP:0001409	Portal hypertension	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0001408	Bile duct proliferation	3/3	OMIM:611561
23322	RPGRIP1L	HP:0002085	Occipital encephalocele	3/3	OMIM:611561
23322	RPGRIP1L	HP:0002085	Occipital encephalocele	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0002084	Encephalocele	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0002084	Encephalocele	-	OMIM:611560
23322	RPGRIP1L	HP:0002084	Encephalocele	HP:0040281	ORPHA:564
23322	RPGRIP1L	HP:0003388	Easy fatigability	36/76	OMIM:131300
23322	RPGRIP1L	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
23322	RPGRIP1L	HP:0010459	True hermaphroditism	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0002104	Apnea	HP:0040281	ORPHA:220497
23322	RPGRIP1L	HP:0002104	Apnea	HP:0040281	ORPHA:1454
23322	RPGRIP1L	HP:0003593	Infantile onset	2/2	OMIM:619113
23322	RPGRIP1L	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0003577	Congenital onset	3/3	OMIM:611561
23322	RPGRIP1L	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:1454
23322	RPGRIP1L	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0100732	Pancreatic fibrosis	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:220497
23322	RPGRIP1L	HP:0003510	Severe short stature	7/7	OMIM:615777
23322	RPGRIP1L	HP:0002365	Hypoplasia of the brainstem	-	OMIM:611560
23322	RPGRIP1L	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:1454
23322	RPGRIP1L	HP:0002323	Anencephaly	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0002323	Anencephaly	3/3	OMIM:611561
23322	RPGRIP1L	HP:0002315	Headache	-	OMIM:131300
23322	RPGRIP1L	HP:0004976	Knee dislocation	6/7	OMIM:615777
23322	RPGRIP1L	HP:0100626	Chronic hepatic failure	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0009803	Short phalanx of finger	-	OMIM:615777
23322	RPGRIP1L	HP:0009763	Limb pain	63/92	OMIM:131300
23322	RPGRIP1L	HP:0003621	Juvenile onset	8/19	OMIM:180100
23322	RPGRIP1L	HP:0003621	Juvenile onset	-	OMIM:131300
23322	RPGRIP1L	HP:0006870	Lobar holoprosencephaly	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
23322	RPGRIP1L	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
23322	RPGRIP1L	HP:0000639	Nystagmus	HP:0040282	ORPHA:220497
23322	RPGRIP1L	HP:0000639	Nystagmus	HP:0040282	ORPHA:1454
23322	RPGRIP1L	HP:0000639	Nystagmus	3/7	OMIM:611560
23322	RPGRIP1L	HP:6001056	Out-toeing	-	OMIM:131300
23322	RPGRIP1L	HP:0000651	Diplopia	-	OMIM:131300
23322	RPGRIP1L	HP:0000648	Optic atrophy	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0000647	Sclerocornea	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0000612	Iris coloboma	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0000612	Iris coloboma	HP:0040282	ORPHA:1454
23322	RPGRIP1L	HP:0001956	Truncal obesity	2/7	OMIM:615777
23322	RPGRIP1L	HP:0001903	Anemia	2/2	OMIM:619113
23322	RPGRIP1L	HP:0001903	Anemia	HP:0040283	OMIM:131300
23322	RPGRIP1L	HP:0010049	Short metacarpal	-	OMIM:615777
23322	RPGRIP1L	HP:0000678	Dental crowding	-	OMIM:615777
23322	RPGRIP1L	HP:0000662	Nyctalopia	26/28	OMIM:180100
23322	RPGRIP1L	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:220497
23322	RPGRIP1L	HP:0000657	Oculomotor apraxia	6/7	OMIM:611560
23322	RPGRIP1L	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:1454
23322	RPGRIP1L	HP:0000657	Oculomotor apraxia	2/2	OMIM:619113
23322	RPGRIP1L	HP:0000670	Carious teeth	-	OMIM:131300
23322	RPGRIP1L	HP:0011304	Broad thumb	2/7	OMIM:615777
23322	RPGRIP1L	HP:0000668	Hypodontia	-	OMIM:615777
23322	RPGRIP1L	HP:0000664	Synophrys	-	OMIM:615777
23322	RPGRIP1L	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0004396	Poor appetite	-	OMIM:131300
23322	RPGRIP1L	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
23322	RPGRIP1L	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
23322	RPGRIP1L	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
23322	RPGRIP1L	HP:0003026	Short long bone	7/7	OMIM:615777
23322	RPGRIP1L	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
23322	RPGRIP1L	HP:0000767	Pectus excavatum	2/7	OMIM:615777
23322	RPGRIP1L	HP:0000768	Pectus carinatum	1/7	OMIM:615777
23322	RPGRIP1L	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
23322	RPGRIP1L	HP:0000750	Delayed speech and language development	-	OMIM:615777
23322	RPGRIP1L	HP:0000729	Autistic behavior	1/2	OMIM:619113
23322	RPGRIP1L	HP:0011463	Childhood onset	3/19	OMIM:180100
23322	RPGRIP1L	HP:0011462	Young adult onset	8/19	OMIM:180100
23322	RPGRIP1L	HP:0011461	Fetal onset	7/7	OMIM:615777
23322	RPGRIP1L	HP:0000774	Narrow chest	2/7	OMIM:615777
23322	RPGRIP1L	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:220497
23322	RPGRIP1L	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:1454
23322	RPGRIP1L	HP:0000926	Platyspondyly	1/7	OMIM:615777
23322	RPGRIP1L	HP:0003180	Flat acetabular roof	-	OMIM:615777
23322	RPGRIP1L	HP:0004482	Relative macrocephaly	-	OMIM:615777
23322	RPGRIP1L	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
23322	RPGRIP1L	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0000823	Delayed puberty	-	OMIM:131300
23322	RPGRIP1L	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0000894	Short clavicles	-	OMIM:615777
23322	RPGRIP1L	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
23322	RPGRIP1L	HP:0100259	Postaxial polydactyly	-	OMIM:611560
23322	RPGRIP1L	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
23322	RPGRIP1L	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0000286	Epicanthus	1/7	OMIM:615777
23322	RPGRIP1L	HP:0000280	Coarse facial features	2/7	OMIM:615777
23322	RPGRIP1L	HP:0000293	Full cheeks	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0000256	Macrocephaly	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0000276	Long face	HP:0040282	ORPHA:220497
23322	RPGRIP1L	HP:0000276	Long face	HP:0040282	ORPHA:1454
23322	RPGRIP1L	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
23322	RPGRIP1L	HP:0002827	Hip dislocation	3/7	OMIM:615777
23322	RPGRIP1L	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0000252	Microcephaly	HP:0040281	ORPHA:564
23322	RPGRIP1L	HP:0000252	Microcephaly	-	OMIM:615777
23322	RPGRIP1L	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0002876	Episodic tachypnea	-	OMIM:611560
23322	RPGRIP1L	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0002857	Genu valgum	1/7	OMIM:611560
23322	RPGRIP1L	HP:0002857	Genu valgum	-	OMIM:131300
23322	RPGRIP1L	HP:0002871	Central apnea	-	OMIM:611560
23322	RPGRIP1L	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0001533	Slender build	-	OMIM:131300
23322	RPGRIP1L	HP:0000204	Cleft upper lip	3/3	OMIM:611561
23322	RPGRIP1L	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
23322	RPGRIP1L	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
23322	RPGRIP1L	HP:0007807	Optic nerve compression	-	OMIM:131300
23322	RPGRIP1L	HP:0012368	Flat face	7/7	OMIM:615777
23322	RPGRIP1L	HP:0006580	Portal fibrosis	1/2	OMIM:619113
23322	RPGRIP1L	HP:0005248	Intrahepatic biliary atresia	HP:0040281	ORPHA:1454
23322	RPGRIP1L	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
23322	RPGRIP1L	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:1454
23322	RPGRIP1L	HP:0006487	Bowing of the long bones	2/3	OMIM:611561
23322	RPGRIP1L	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0000365	Hearing impairment	10/67	OMIM:131300
23322	RPGRIP1L	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:220497
23322	RPGRIP1L	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0000369	Low-set ears	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0000340	Sloping forehead	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0000343	Long philtrum	1/7	OMIM:615777
23322	RPGRIP1L	HP:0011001	Increased bone mineral density	-	OMIM:131300
23322	RPGRIP1L	HP:0000347	Micrognathia	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0000316	Hypertelorism	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0000311	Round face	2/7	OMIM:615777
23322	RPGRIP1L	HP:0002970	Genu varum	-	OMIM:615777
23322	RPGRIP1L	HP:0000303	Mandibular prognathia	-	OMIM:131300
23322	RPGRIP1L	HP:0032945	Renal interstitial inflammation	2/2	OMIM:619113
23322	RPGRIP1L	HP:0032948	Renal interstitial fibrosis	2/2	OMIM:619113
23322	RPGRIP1L	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
23322	RPGRIP1L	HP:0000486	Strabismus	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0000486	Strabismus	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0000486	Strabismus	1/2	OMIM:619113
23322	RPGRIP1L	HP:0000482	Microcornea	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0000463	Anteverted nares	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0000463	Anteverted nares	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0000470	Short neck	1/7	OMIM:615777
23322	RPGRIP1L	HP:0001769	Broad foot	HP:0040283	OMIM:615777
23322	RPGRIP1L	HP:0001763	Pes planus	1/7	OMIM:615777
23322	RPGRIP1L	HP:0001746	Asplenia	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0001747	Accessory spleen	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0006706	Cystic liver disease	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0000518	Cataract	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
23322	RPGRIP1L	HP:0001840	Metatarsus adductus	-	OMIM:615777
23322	RPGRIP1L	HP:0000528	Anophthalmia	HP:0040283	ORPHA:564
23322	RPGRIP1L	HP:0000520	Proptosis	2/4	OMIM:131300
23322	RPGRIP1L	HP:0000520	Proptosis	7/7	OMIM:615777
23322	RPGRIP1L	HP:0000508	Ptosis	HP:0040283	ORPHA:220497
23322	RPGRIP1L	HP:0000508	Ptosis	HP:0040283	ORPHA:1454
23322	RPGRIP1L	HP:0000508	Ptosis	1/2	OMIM:619113
23322	RPGRIP1L	HP:0000508	Ptosis	3/7	OMIM:611560
23322	RPGRIP1L	HP:0000505	Visual impairment	HP:0040282	ORPHA:1454
23322	RPGRIP1L	HP:0001830	Postaxial foot polydactyly	1/3	OMIM:611561
23322	RPGRIP1L	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:564
23322	RPGRIP1L	HP:0000575	Scotoma	5/18	OMIM:180100
23322	RPGRIP1L	HP:0000592	Blue sclerae	2/7	OMIM:615777
23322	RPGRIP1L	HP:0000588	Optic disc coloboma	HP:0040282	ORPHA:1454
23322	RPGRIP1L	HP:0000556	Retinal dystrophy	-	OMIM:611560
23322	RPGRIP1L	HP:0000568	Microphthalmia	3/3	OMIM:611561
23322	RPGRIP1L	HP:0000568	Microphthalmia	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:1454
23322	RPGRIP1L	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
23322	RPGRIP1L	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0001883	Talipes	HP:0040282	ORPHA:564
23322	RPGRIP1L	HP:0012514	Lower limb pain	4/4	OMIM:131300
23322	RPGRIP1L	HP:0000543	Optic disc pallor	1/1	OMIM:180100
23322	RPGRIP1L	HP:0000545	Myopia	-	OMIM:180100
23325	WASHC4	HP:0010862	Delayed fine motor development	7/7	OMIM:615817
23325	WASHC4	HP:0001252	Hypotonia	2/2	OMIM:615817
23325	WASHC4	HP:0001249	Intellectual disability	7/7	OMIM:615817
23325	WASHC4	HP:0001263	Global developmental delay	7/7	OMIM:615817
23325	WASHC4	HP:0001257	Spasticity	1/7	OMIM:615817
23325	WASHC4	HP:0002553	Highly arched eyebrow	1/2	OMIM:615817
23325	WASHC4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615817
23325	WASHC4	HP:0002187	Intellectual disability, profound	2/2	OMIM:615817
23325	WASHC4	HP:0003593	Infantile onset	7/7	OMIM:615817
23325	WASHC4	HP:0100716	Self-injurious behavior	1/2	OMIM:615817
23325	WASHC4	HP:0003623	Neonatal onset	2/2	OMIM:615817
23325	WASHC4	HP:0034042	Dorsal hirsutism	1/2	OMIM:615817
23325	WASHC4	HP:0004322	Short stature	9/9	OMIM:615817
23325	WASHC4	HP:0031936	Delayed ability to walk	2/2	OMIM:615817
23325	WASHC4	HP:0012736	Profound global developmental delay	2/2	OMIM:615817
23325	WASHC4	HP:0000750	Delayed speech and language development	9/9	OMIM:615817
23325	WASHC4	HP:0000252	Microcephaly	1/2	OMIM:615817
23325	WASHC4	HP:0000219	Thin upper lip vermilion	1/2	OMIM:615817
23325	WASHC4	HP:0000369	Low-set ears	1/2	OMIM:615817
23325	WASHC4	HP:0000486	Strabismus	1/2	OMIM:615817
23325	WASHC4	HP:0000455	Broad nasal tip	2/2	OMIM:615817
23325	WASHC4	HP:0011220	Prominent forehead	1/2	OMIM:615817
23327	NEDD4L	HP:0001250	Seizure	1/7	OMIM:617201
23327	NEDD4L	HP:0001252	Hypotonia	2/7	OMIM:617201
23327	NEDD4L	HP:0001251	Ataxia	1/7	OMIM:617201
23327	NEDD4L	HP:0001249	Intellectual disability	-	OMIM:617201
23327	NEDD4L	HP:0001263	Global developmental delay	7/7	OMIM:617201
23327	NEDD4L	HP:0032388	Periventricular nodular heterotopia	7/7	OMIM:617201
23327	NEDD4L	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:98892
23327	NEDD4L	HP:0002539	Cortical dysplasia	1/7	OMIM:617201
23327	NEDD4L	HP:0002521	Hypsarrhythmia	1/7	OMIM:617201
23327	NEDD4L	HP:0003834	Shoulder dislocation	HP:0040283	ORPHA:98892
23327	NEDD4L	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:98892
23327	NEDD4L	HP:0000028	Cryptorchidism	1/3	OMIM:617201
23327	NEDD4L	HP:0001344	Absent speech	-	OMIM:617201
23327	NEDD4L	HP:0000006	Autosomal dominant inheritance	-	OMIM:617201
23327	NEDD4L	HP:0002650	Scoliosis	HP:0040281	ORPHA:98892
23327	NEDD4L	HP:0000160	Narrow mouth	1/7	OMIM:617201
23327	NEDD4L	HP:0000175	Cleft palate	4/7	OMIM:617201
23327	NEDD4L	HP:0008936	Axial hypotonia	4/7	OMIM:617201
23327	NEDD4L	HP:0002021	Pyloric stenosis	HP:0040281	ORPHA:98892
23327	NEDD4L	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:98892
23327	NEDD4L	HP:0004691	2-3 toe syndactyly	5/7	OMIM:617201
23327	NEDD4L	HP:0002079	Hypoplasia of the corpus callosum	1/7	OMIM:617201
23327	NEDD4L	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/7	OMIM:617201
23327	NEDD4L	HP:0002121	Generalized non-motor (absence) seizure	1/7	OMIM:617201
23327	NEDD4L	HP:0002126	Polymicrogyria	1/7	OMIM:617201
23327	NEDD4L	HP:0002188	Delayed CNS myelination	1/7	OMIM:617201
23327	NEDD4L	HP:0002194	Delayed gross motor development	1/7	OMIM:617201
23327	NEDD4L	HP:0002190	Choroid plexus cyst	1/7	OMIM:617201
23327	NEDD4L	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/7	OMIM:617201
23327	NEDD4L	HP:0003593	Infantile onset	2/7	OMIM:617201
23327	NEDD4L	HP:0003577	Congenital onset	5/7	OMIM:617201
23327	NEDD4L	HP:0100704	Cerebral visual impairment	1/7	OMIM:617201
23327	NEDD4L	HP:0010712	1-4 toe syndactyly	1/7	OMIM:617201
23327	NEDD4L	HP:0010705	4-5 finger cutaneous syndactyly	1/7	OMIM:617201
23327	NEDD4L	HP:0100790	Hernia	HP:0040281	ORPHA:98892
23327	NEDD4L	HP:0002282	Gray matter heterotopia	7/7	OMIM:617201
23327	NEDD4L	HP:0011968	Feeding difficulties	1/7	OMIM:617201
23327	NEDD4L	HP:0020049	Exodeviation	1/7	OMIM:617201
23327	NEDD4L	HP:0007165	Periventricular heterotopia	HP:0040282	ORPHA:98892
23327	NEDD4L	HP:0003623	Neonatal onset	2/7	OMIM:617201
23327	NEDD4L	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:98892
23327	NEDD4L	HP:0004209	Clinodactyly of the 5th finger	2/7	OMIM:617201
23327	NEDD4L	HP:0000678	Dental crowding	1/7	OMIM:617201
23327	NEDD4L	HP:0012639	Abnormal nervous system morphology	HP:0040282	ORPHA:98892
23327	NEDD4L	HP:0000666	Horizontal nystagmus	1/7	OMIM:617201
23327	NEDD4L	HP:0000750	Delayed speech and language development	1/7	OMIM:617201
23327	NEDD4L	HP:0003196	Short nose	1/7	OMIM:617201
23327	NEDD4L	HP:0034391	Elbow contracture	1/7	OMIM:617201
23327	NEDD4L	HP:0000963	Thin skin	HP:0040282	ORPHA:98892
23327	NEDD4L	HP:0000276	Long face	1/7	OMIM:617201
23327	NEDD4L	HP:0000268	Dolichocephaly	1/7	OMIM:617201
23327	NEDD4L	HP:0006380	Knee flexion contracture	1/7	OMIM:617201
23327	NEDD4L	HP:0000201	Pierre-Robin sequence	1/7	OMIM:617201
23327	NEDD4L	HP:0001508	Failure to thrive	1/7	OMIM:617201
23327	NEDD4L	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:98892
23327	NEDD4L	HP:0000347	Micrognathia	2/7	OMIM:617201
23327	NEDD4L	HP:0000316	Hypertelorism	1/7	OMIM:617201
23327	NEDD4L	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:98892
23327	NEDD4L	HP:0000311	Round face	1/7	OMIM:617201
23327	NEDD4L	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:98892
23327	NEDD4L	HP:0001654	Abnormal heart valve morphology	HP:0040282	ORPHA:98892
23327	NEDD4L	HP:0001629	Ventricular septal defect	1/7	OMIM:617201
23327	NEDD4L	HP:0000308	Microretrognathia	1/7	OMIM:617201
23327	NEDD4L	HP:0032988	Persistent head lag	2/7	OMIM:617201
23327	NEDD4L	HP:0000407	Sensorineural hearing impairment	1/7	OMIM:617201
23327	NEDD4L	HP:0012469	Infantile spasms	1/7	OMIM:617201
23327	NEDD4L	HP:0000490	Deeply set eye	1/7	OMIM:617201
23327	NEDD4L	HP:0000463	Anteverted nares	1/7	OMIM:617201
23327	NEDD4L	HP:0001762	Talipes equinovarus	1/7	OMIM:617201
23327	NEDD4L	HP:0000520	Proptosis	1/7	OMIM:617201
23327	NEDD4L	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:98892
23327	NEDD4L	HP:0000543	Optic disc pallor	1/7	OMIM:617201
23327	NEDD4L	HP:0000545	Myopia	1/7	OMIM:617201
23328	SASH1	HP:0007441	Hyperpigmented/hypopigmented macules	-	OMIM:127500
23328	SASH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618373
23328	SASH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:127500
23328	SASH1	HP:0001480	Freckling	1/2	OMIM:618373
23328	SASH1	HP:0005987	Multinodular goiter	1/2	OMIM:618373
23328	SASH1	HP:0003593	Infantile onset	2/2	OMIM:618373
23328	SASH1	HP:0003593	Infantile onset	-	OMIM:127500
23328	SASH1	HP:0008404	Nail dystrophy	2/2	OMIM:618373
23328	SASH1	HP:0009719	Hypomelanotic macule	1/2	OMIM:618373
23328	SASH1	HP:0002293	Alopecia of scalp	2/2	OMIM:618373
23328	SASH1	HP:0001034	Hypermelanotic macule	2/2	OMIM:618373
23328	SASH1	HP:0000982	Palmoplantar keratoderma	1/2	OMIM:618373
23328	SASH1	HP:0000958	Dry skin	1/2	OMIM:618373
23328	SASH1	HP:0040189	Scaling skin	1/2	OMIM:618373
23328	SASH1	HP:0001596	Alopecia	2/2	OMIM:618373
23328	SASH1	HP:0002860	Squamous cell carcinoma	2/2	OMIM:618373
23328	SASH1	HP:0006480	Premature loss of teeth	1/2	OMIM:618373
23328	SASH1	HP:0000524	Conjunctival telangiectasia	1/2	OMIM:618373
23334	SZT2	HP:0007270	Atypical absence seizure	1/3	OMIM:615476
23334	SZT2	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
23334	SZT2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
23334	SZT2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
23334	SZT2	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
23334	SZT2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
23334	SZT2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
23334	SZT2	HP:0001250	Seizure	HP:0040282	ORPHA:442835
23334	SZT2	HP:0001252	Hypotonia	2/2	OMIM:615476
23334	SZT2	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
23334	SZT2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
23334	SZT2	HP:0001265	Hyporeflexia	-	OMIM:615476
23334	SZT2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
23334	SZT2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
23334	SZT2	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
23334	SZT2	HP:0007359	Focal-onset seizure	-	OMIM:615476
23334	SZT2	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/3	OMIM:615476
23334	SZT2	HP:0002553	Highly arched eyebrow	-	OMIM:615476
23334	SZT2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
23334	SZT2	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
23334	SZT2	HP:0001344	Absent speech	2/3	OMIM:615476
23334	SZT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615476
23334	SZT2	HP:0001337	Tremor	HP:0040283	ORPHA:442835
23334	SZT2	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
23334	SZT2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
23334	SZT2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
23334	SZT2	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
23334	SZT2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
23334	SZT2	HP:0002121	Generalized non-motor (absence) seizure	-	OMIM:615476
23334	SZT2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
23334	SZT2	HP:0002197	Generalized-onset seizure	-	OMIM:615476
23334	SZT2	HP:0003593	Infantile onset	3/3	OMIM:615476
23334	SZT2	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
23334	SZT2	HP:0200134	Epileptic encephalopathy	-	OMIM:615476
23334	SZT2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
23334	SZT2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
23334	SZT2	HP:0007074	Thick corpus callosum	-	OMIM:615476
23334	SZT2	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
23334	SZT2	HP:0002353	EEG abnormality	-	OMIM:615476
23334	SZT2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
23334	SZT2	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
23334	SZT2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
23334	SZT2	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
23334	SZT2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
23334	SZT2	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
23334	SZT2	HP:0004322	Short stature	HP:0040283	ORPHA:442835
23334	SZT2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
23334	SZT2	HP:0012736	Profound global developmental delay	3/3	OMIM:615476
23334	SZT2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
23334	SZT2	HP:0000717	Autism	HP:0040283	ORPHA:442835
23334	SZT2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
23334	SZT2	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
23334	SZT2	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
23334	SZT2	HP:0001562	Oligohydramnios	1/3	OMIM:615476
23334	SZT2	HP:0001561	Polyhydramnios	1/3	OMIM:615476
23334	SZT2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
23334	SZT2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
23334	SZT2	HP:0032792	Tonic seizure	1/3	OMIM:615476
23334	SZT2	HP:0000348	High forehead	-	OMIM:615476
23334	SZT2	HP:0000348	High forehead	HP:0040283	ORPHA:442835
23334	SZT2	HP:0001659	Aortic regurgitation	1/3	OMIM:615476
23334	SZT2	HP:0001631	Atrial septal defect	1/3	OMIM:615476
23334	SZT2	HP:0000494	Downslanted palpebral fissures	-	OMIM:615476
23334	SZT2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
23334	SZT2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
23334	SZT2	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
23334	SZT2	HP:0000508	Ptosis	-	OMIM:615476
23334	SZT2	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
23334	SZT2	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
23334	SZT2	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
23334	SZT2	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
23345	SYNE1	HP:0001188	Hand clenching	HP:0040283	ORPHA:319332
23345	SYNE1	HP:0001181	Adducted thumb	HP:0040283	ORPHA:319332
23345	SYNE1	HP:0001181	Adducted thumb	1/1	OMIM:618484
23345	SYNE1	HP:0002486	Myotonia	HP:0040281	ORPHA:98853
23345	SYNE1	HP:0002495	Impaired vibratory sensation	HP:0040284	ORPHA:88644
23345	SYNE1	HP:0002493	Upper motor neuron dysfunction	HP:0040281	ORPHA:88644
23345	SYNE1	HP:0007267	Chronic axonal neuropathy	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0003701	Proximal muscle weakness	1/1	OMIM:618484
23345	SYNE1	HP:0003701	Proximal muscle weakness	-	OMIM:612998
23345	SYNE1	HP:0001290	Generalized hypotonia	-	OMIM:618484
23345	SYNE1	HP:0001272	Cerebellar atrophy	HP:0040281	ORPHA:88644
23345	SYNE1	HP:0001272	Cerebellar atrophy	34/34	OMIM:610743
23345	SYNE1	HP:0001271	Polyneuropathy	HP:0040284	ORPHA:88644
23345	SYNE1	HP:0001270	Motor delay	HP:0040281	ORPHA:319332
23345	SYNE1	HP:0001270	Motor delay	HP:0040282	ORPHA:88644
23345	SYNE1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:88644
23345	SYNE1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0001284	Areflexia	1/2	OMIM:618484
23345	SYNE1	HP:0001252	Hypotonia	2/2	OMIM:618484
23345	SYNE1	HP:0001252	Hypotonia	HP:0040283	ORPHA:98853
23345	SYNE1	HP:0001251	Ataxia	HP:0040281	ORPHA:88644
23345	SYNE1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:319332
23345	SYNE1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0001249	Intellectual disability	-	ORPHA:98853
23345	SYNE1	HP:0001265	Hyporeflexia	1/1	OMIM:618484
23345	SYNE1	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:319332
23345	SYNE1	HP:0001260	Dysarthria	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0001260	Dysarthria	53/53	OMIM:610743
23345	SYNE1	HP:0001257	Spasticity	HP:0040282	ORPHA:88644
23345	SYNE1	HP:0001257	Spasticity	HP:0040284	OMIM:610743
23345	SYNE1	HP:0007366	Atrophy/Degeneration affecting the brainstem	HP:0040284	ORPHA:88644
23345	SYNE1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:88644
23345	SYNE1	HP:0002540	Inability to walk	HP:0040281	ORPHA:319332
23345	SYNE1	HP:0002515	Waddling gait	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0003805	Rimmed vacuoles	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0001371	Flexion contracture	-	OMIM:618484
23345	SYNE1	HP:0001387	Joint stiffness	HP:0040281	ORPHA:98853
23345	SYNE1	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:88644
23345	SYNE1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:319332
23345	SYNE1	HP:0000028	Cryptorchidism	1/1	OMIM:618484
23345	SYNE1	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:319332
23345	SYNE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:610743
23345	SYNE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618484
23345	SYNE1	HP:0000006	Autosomal dominant inheritance	-	OMIM:612998
23345	SYNE1	HP:0001310	Dysmetria	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0001310	Dysmetria	-	OMIM:610743
23345	SYNE1	HP:0002650	Scoliosis	HP:0040282	ORPHA:319332
23345	SYNE1	HP:0002650	Scoliosis	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0002650	Scoliosis	-	OMIM:610743
23345	SYNE1	HP:0002650	Scoliosis	1/2	OMIM:618484
23345	SYNE1	HP:0002650	Scoliosis	HP:0040283	ORPHA:98853
23345	SYNE1	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:88644
23345	SYNE1	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:98853
23345	SYNE1	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0008948	Proximal upper limb amyotrophy	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0008956	Proximal lower limb amyotrophy	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0008935	Generalized neonatal hypotonia	HP:0040281	ORPHA:319332
23345	SYNE1	HP:0025402	Square-wave jerks	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0002751	Kyphoscoliosis	1/2	OMIM:618484
23345	SYNE1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040284	ORPHA:98853
23345	SYNE1	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:98853
23345	SYNE1	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0011807	Type 1 muscle fiber atrophy	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0002086	Abnormality of the respiratory system	HP:0040284	ORPHA:88644
23345	SYNE1	HP:0002091	Restrictive ventilatory defect	1/2	OMIM:618484
23345	SYNE1	HP:0002066	Gait ataxia	52/53	OMIM:610743
23345	SYNE1	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:88644
23345	SYNE1	HP:0003390	Sensory axonal neuropathy	HP:0040284	ORPHA:88644
23345	SYNE1	HP:0003391	Gowers sign	HP:0040283	ORPHA:319332
23345	SYNE1	HP:0003391	Gowers sign	-	OMIM:618484
23345	SYNE1	HP:0002070	Limb ataxia	52/53	OMIM:610743
23345	SYNE1	HP:0002071	Abnormality of extrapyramidal motor function	0/53	OMIM:610743
23345	SYNE1	HP:0003477	Peripheral axonal neuropathy	HP:0040284	OMIM:610743
23345	SYNE1	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0003487	Babinski sign	HP:0040282	ORPHA:88644
23345	SYNE1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0003445	EMG: neuropathic changes	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0003418	Back pain	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0002194	Delayed gross motor development	2/2	OMIM:618484
23345	SYNE1	HP:0003581	Adult onset	53/53	OMIM:610743
23345	SYNE1	HP:0003560	Muscular dystrophy	-	OMIM:612998
23345	SYNE1	HP:0003557	Increased variability in muscle fiber diameter	2/3	OMIM:618484
23345	SYNE1	HP:0430025	Bilateral facial palsy	HP:0040281	ORPHA:319332
23345	SYNE1	HP:0002380	Fasciculations	HP:0040282	ORPHA:88644
23345	SYNE1	HP:0002395	Lower limb hyperreflexia	14/53	OMIM:610743
23345	SYNE1	HP:0003691	Scapular winging	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0003676	Progressive	-	OMIM:618484
23345	SYNE1	HP:0003687	Centrally nucleated skeletal muscle fibers	2/2	OMIM:618484
23345	SYNE1	HP:0003677	Slowly progressive	-	OMIM:610743
23345	SYNE1	HP:0007126	Proximal amyotrophy	-	OMIM:612998
23345	SYNE1	HP:0002312	Clumsiness	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0007178	Motor polyneuropathy	HP:0040284	ORPHA:88644
23345	SYNE1	HP:0000639	Nystagmus	-	OMIM:610743
23345	SYNE1	HP:0000648	Optic atrophy	0/53	OMIM:610743
23345	SYNE1	HP:0031960	Arm dystonia	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0031936	Delayed ability to walk	2/2	OMIM:618484
23345	SYNE1	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:98853
23345	SYNE1	HP:0000736	Short attention span	HP:0040282	ORPHA:88644
23345	SYNE1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:319332
23345	SYNE1	HP:0012785	Flexion contracture of finger	1/1	OMIM:618484
23345	SYNE1	HP:0012785	Flexion contracture of finger	HP:0040283	ORPHA:319332
23345	SYNE1	HP:0011463	Childhood onset	-	OMIM:612998
23345	SYNE1	HP:0011461	Fetal onset	3/3	OMIM:618484
23345	SYNE1	HP:0011448	Ankle clonus	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0009125	Lipodystrophy	HP:0040283	ORPHA:98853
23345	SYNE1	HP:0003198	Myopathy	HP:0040281	ORPHA:98853
23345	SYNE1	HP:0000912	Sprengel anomaly	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0003141	Increased LDL cholesterol concentration	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0040081	Abnormal circulating creatine kinase concentration	0/2	OMIM:618484
23345	SYNE1	HP:0040081	Abnormal circulating creatine kinase concentration	-	ORPHA:319332
23345	SYNE1	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:612998
23345	SYNE1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:98853
23345	SYNE1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:88644
23345	SYNE1	HP:0008003	Jerky ocular pursuit movements	23/51	OMIM:610743
23345	SYNE1	HP:0008064	Ichthyosis	HP:0040283	ORPHA:98853
23345	SYNE1	HP:0100297	Increased endomysial connective tissue	1/2	OMIM:618484
23345	SYNE1	HP:0000276	Long face	HP:0040283	ORPHA:319332
23345	SYNE1	HP:0005144	Ventricular septal hypertrophy	-	OMIM:612998
23345	SYNE1	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:98853
23345	SYNE1	HP:0007772	Impaired smooth pursuit	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0002808	Kyphosis	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0002808	Kyphosis	-	OMIM:610743
23345	SYNE1	HP:0002808	Kyphosis	-	OMIM:618484
23345	SYNE1	HP:0002808	Kyphosis	HP:0040283	ORPHA:98853
23345	SYNE1	HP:0002804	Arthrogryposis multiplex congenita	3/3	OMIM:618484
23345	SYNE1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:319332
23345	SYNE1	HP:0000252	Microcephaly	-	ORPHA:319332
23345	SYNE1	HP:0001561	Polyhydramnios	-	ORPHA:319332
23345	SYNE1	HP:0001558	Decreased fetal movement	HP:0040281	ORPHA:319332
23345	SYNE1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0001558	Decreased fetal movement	3/3	OMIM:618484
23345	SYNE1	HP:0001518	Small for gestational age	HP:0040283	ORPHA:319332
23345	SYNE1	HP:0001518	Small for gestational age	1/3	OMIM:618484
23345	SYNE1	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0001513	Obesity	HP:0040283	ORPHA:98853
23345	SYNE1	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040281	ORPHA:319332
23345	SYNE1	HP:0001605	Vocal cord paralysis	HP:0040284	ORPHA:98853
23345	SYNE1	HP:0005191	Congenital knee dislocation	HP:0040283	ORPHA:319332
23345	SYNE1	HP:0005155	Ventricular escape rhythm	HP:0040284	ORPHA:98853
23345	SYNE1	HP:0000365	Hearing impairment	0/53	OMIM:610743
23345	SYNE1	HP:0030117	Absent muscle fiber emerin	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0000343	Long philtrum	HP:0040283	ORPHA:319332
23345	SYNE1	HP:0012332	Abnormal autonomic nervous system physiology	0/53	OMIM:610743
23345	SYNE1	HP:0001678	Atrioventricular block	HP:0040283	ORPHA:98853
23345	SYNE1	HP:0001645	Sudden cardiac death	HP:0040284	ORPHA:98853
23345	SYNE1	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:98853
23345	SYNE1	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:98853
23345	SYNE1	HP:0030319	Weakness of facial musculature	1/2	OMIM:618484
23345	SYNE1	HP:0000400	Macrotia	HP:0040283	ORPHA:319332
23345	SYNE1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:319332
23345	SYNE1	HP:0000486	Strabismus	HP:0040283	ORPHA:319332
23345	SYNE1	HP:0000486	Strabismus	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0000486	Strabismus	-	OMIM:610743
23345	SYNE1	HP:0000486	Strabismus	1/1	OMIM:618484
23345	SYNE1	HP:0000467	Neck muscle weakness	-	OMIM:612998
23345	SYNE1	HP:0001771	Achilles tendon contracture	HP:0040282	ORPHA:98853
23345	SYNE1	HP:0001776	Bilateral talipes equinovarus	HP:0040281	ORPHA:319332
23345	SYNE1	HP:0001776	Bilateral talipes equinovarus	2/2	OMIM:618484
23345	SYNE1	HP:0001762	Talipes equinovarus	2/2	OMIM:618484
23345	SYNE1	HP:0001761	Pes cavus	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0001761	Pes cavus	-	OMIM:610743
23345	SYNE1	HP:0031729	Moderate hypermetropia	HP:0040283	ORPHA:319332
23345	SYNE1	HP:0005469	Flat occiput	HP:0040283	ORPHA:319332
23345	SYNE1	HP:0006785	Limb-girdle muscular dystrophy	HP:0040281	ORPHA:98853
23345	SYNE1	HP:0000508	Ptosis	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0000508	Ptosis	-	OMIM:610743
23345	SYNE1	HP:0000508	Ptosis	HP:0040283	ORPHA:98853
23345	SYNE1	HP:0000597	Ophthalmoparesis	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0000570	Abnormal saccadic eye movements	HP:0040283	ORPHA:88644
23345	SYNE1	HP:0000540	Hypermetropia	1/1	OMIM:618484
23347	SMCHD1	HP:0009927	Aplasia of the nose	-	OMIM:603457
23347	SMCHD1	HP:0009927	Aplasia of the nose	HP:0040281	ORPHA:2250
23347	SMCHD1	HP:0009932	Single naris	HP:0040281	ORPHA:2250
23347	SMCHD1	HP:0009924	Aplasia/Hypoplasia involving the nose	HP:0040282	ORPHA:2250
23347	SMCHD1	HP:0003749	Pelvic girdle muscle weakness	3/33	OMIM:158901
23347	SMCHD1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0001250	Seizure	HP:0040283	ORPHA:269
23347	SMCHD1	HP:0001249	Intellectual disability	9/40	OMIM:603457
23347	SMCHD1	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:2250
23347	SMCHD1	HP:0010984	Digenic inheritance	-	OMIM:158901
23347	SMCHD1	HP:0000059	Hypoplastic labia majora	HP:0040283	OMIM:603457
23347	SMCHD1	HP:0012037	Pectoralis amyotrophy	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0000044	Hypogonadotropic hypogonadism	17/40	OMIM:603457
23347	SMCHD1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:2250
23347	SMCHD1	HP:0000054	Micropenis	-	OMIM:603457
23347	SMCHD1	HP:0000047	Hypospadias	HP:0040283	OMIM:603457
23347	SMCHD1	HP:0000023	Inguinal hernia	HP:0040283	OMIM:603457
23347	SMCHD1	HP:0000023	Inguinal hernia	HP:0040281	ORPHA:2250
23347	SMCHD1	HP:0000028	Cryptorchidism	-	OMIM:603457
23347	SMCHD1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:2250
23347	SMCHD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:603457
23347	SMCHD1	HP:0002650	Scoliosis	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:2250
23347	SMCHD1	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:2250
23347	SMCHD1	HP:0000175	Cleft palate	6/40	OMIM:603457
23347	SMCHD1	HP:0000175	Cleft palate	HP:0040283	ORPHA:2250
23347	SMCHD1	HP:0000135	Hypogonadism	HP:0040281	ORPHA:2250
23347	SMCHD1	HP:0006352	Failure of eruption of permanent teeth	HP:0040281	ORPHA:2250
23347	SMCHD1	HP:0410030	Cleft lip	2/40	OMIM:603457
23347	SMCHD1	HP:0008970	Scapulohumeral muscular dystrophy	-	OMIM:158901
23347	SMCHD1	HP:0008959	Distal upper limb muscle weakness	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0004673	Decreased facial expression	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0040326	Hypoplasia of the olfactory bulb	HP:0040281	ORPHA:2250
23347	SMCHD1	HP:0003307	Hyperlordosis	HP:0040281	ORPHA:269
23347	SMCHD1	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:269
23347	SMCHD1	HP:0011800	Midface retrusion	22/40	OMIM:603457
23347	SMCHD1	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:269
23347	SMCHD1	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0003376	Steppage gait	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0100596	Absent nares	HP:0040281	ORPHA:2250
23347	SMCHD1	HP:0100595	Camptocormia	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0003581	Adult onset	-	OMIM:158901
23347	SMCHD1	HP:0010628	Facial palsy	3/33	OMIM:158901
23347	SMCHD1	HP:0003691	Scapular winging	HP:0040281	ORPHA:269
23347	SMCHD1	HP:0003691	Scapular winging	33/33	OMIM:158901
23347	SMCHD1	HP:0002359	Frequent falls	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0000646	Amblyopia	HP:0040282	ORPHA:2250
23347	SMCHD1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:2250
23347	SMCHD1	HP:0000618	Blindness	HP:0040282	ORPHA:2250
23347	SMCHD1	HP:0000612	Iris coloboma	HP:0040282	ORPHA:2250
23347	SMCHD1	HP:0009023	Abdominal wall muscle weakness	HP:0040282	ORPHA:2250
23347	SMCHD1	HP:0009023	Abdominal wall muscle weakness	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0009027	Foot dorsiflexor weakness	26/33	OMIM:158901
23347	SMCHD1	HP:0000692	Tooth malposition	HP:0040281	ORPHA:2250
23347	SMCHD1	HP:0000689	Dental malocclusion	3/40	OMIM:603457
23347	SMCHD1	HP:0000685	Hypoplasia of teeth	9/40	OMIM:603457
23347	SMCHD1	HP:0000664	Synophrys	HP:0040283	OMIM:603457
23347	SMCHD1	HP:0030664	Beevor's sign	12/18	OMIM:158901
23347	SMCHD1	HP:0030664	Beevor's sign	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0000771	Gynecomastia	HP:0040282	ORPHA:2250
23347	SMCHD1	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0000786	Primary amenorrhea	-	OMIM:603457
23347	SMCHD1	HP:0030752	Dacryocystocele	HP:0040283	ORPHA:2250
23347	SMCHD1	HP:0004409	Hyposmia	HP:0040281	ORPHA:2250
23347	SMCHD1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:269
23347	SMCHD1	HP:0003241	External genital hypoplasia	HP:0040281	ORPHA:2250
23347	SMCHD1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:269
23347	SMCHD1	HP:0008046	Abnormal retinal vascular morphology	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0000298	Mask-like facies	HP:0040281	ORPHA:269
23347	SMCHD1	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:269
23347	SMCHD1	HP:0000218	High palate	27/40	OMIM:603457
23347	SMCHD1	HP:0030002	Nocturnal lagophthalmos	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0001538	Protuberant abdomen	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0000377	Abnormal pinna morphology	1/40	OMIM:603457
23347	SMCHD1	HP:0006587	Straight clavicles	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0007898	Exudative retinopathy	HP:0040283	ORPHA:269
23347	SMCHD1	HP:0000365	Hearing impairment	6/33	OMIM:158901
23347	SMCHD1	HP:0000316	Hypertelorism	-	OMIM:603457
23347	SMCHD1	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:2250
23347	SMCHD1	HP:0000309	Abnormal midface morphology	HP:0040281	ORPHA:2250
23347	SMCHD1	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0000405	Conductive hearing impairment	2/40	OMIM:603457
23347	SMCHD1	HP:0000491	Keratitis	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0000458	Anosmia	HP:0040281	ORPHA:2250
23347	SMCHD1	HP:0000458	Anosmia	-	OMIM:603457
23347	SMCHD1	HP:0000453	Choanal atresia	-	OMIM:603457
23347	SMCHD1	HP:0000453	Choanal atresia	HP:0040282	ORPHA:2250
23347	SMCHD1	HP:0000413	Atresia of the external auditory canal	2/40	OMIM:603457
23347	SMCHD1	HP:0011268	Absent tragus	1/40	OMIM:603457
23347	SMCHD1	HP:0006784	Paranasal sinus hypoplasia	12/40	OMIM:603457
23347	SMCHD1	HP:0000518	Cataract	9/40	OMIM:603457
23347	SMCHD1	HP:0000518	Cataract	HP:0040281	ORPHA:2250
23347	SMCHD1	HP:0000528	Anophthalmia	HP:0040282	ORPHA:2250
23347	SMCHD1	HP:0000509	Conjunctivitis	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0000589	Coloboma	19/40	OMIM:603457
23347	SMCHD1	HP:0000572	Visual loss	HP:0040283	ORPHA:269
23347	SMCHD1	HP:0000572	Visual loss	HP:0040282	ORPHA:2250
23347	SMCHD1	HP:0012532	Chronic pain	HP:0040282	ORPHA:269
23347	SMCHD1	HP:0000568	Microphthalmia	-	OMIM:603457
23347	SMCHD1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:2250
23347	SMCHD1	HP:0000564	Lacrimal duct atresia	24/40	OMIM:603457
23347	SMCHD1	HP:0000541	Retinal detachment	HP:0040283	ORPHA:269
23363	OBSL1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
23363	OBSL1	HP:0001293	Cranial nerve compression	-	OMIM:131300
23363	OBSL1	HP:0001252	Hypotonia	2/7	OMIM:615777
23363	OBSL1	HP:0001249	Intellectual disability	5/7	OMIM:615777
23363	OBSL1	HP:0001263	Global developmental delay	-	OMIM:615777
23363	OBSL1	HP:0002515	Waddling gait	54/102	OMIM:131300
23363	OBSL1	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:2616
23363	OBSL1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:2616
23363	OBSL1	HP:0001382	Joint hypermobility	-	OMIM:615777
23363	OBSL1	HP:0000047	Hypospadias	HP:0040283	ORPHA:2616
23363	OBSL1	HP:0002680	J-shaped sella turcica	1/1	OMIM:612921
23363	OBSL1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
23363	OBSL1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
23363	OBSL1	HP:0008839	Hypoplastic pelvis	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
23363	OBSL1	HP:0001324	Muscle weakness	40/96	OMIM:131300
23363	OBSL1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
23363	OBSL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612921
23363	OBSL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
23363	OBSL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
23363	OBSL1	HP:0002650	Scoliosis	HP:0040283	ORPHA:2616
23363	OBSL1	HP:0002650	Scoliosis	12/14	OMIM:131300
23363	OBSL1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
23363	OBSL1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
23363	OBSL1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
23363	OBSL1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
23363	OBSL1	HP:0000175	Cleft palate	2/7	OMIM:615777
23363	OBSL1	HP:0000144	Decreased fertility	HP:0040283	ORPHA:2616
23363	OBSL1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0002750	Delayed skeletal maturation	1/1	OMIM:612921
23363	OBSL1	HP:0002007	Frontal bossing	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0002007	Frontal bossing	8/8	OMIM:612921
23363	OBSL1	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:2616
23363	OBSL1	HP:0003307	Hyperlordosis	8/9	OMIM:612921
23363	OBSL1	HP:0011800	Midface retrusion	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0003388	Easy fatigability	36/76	OMIM:131300
23363	OBSL1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
23363	OBSL1	HP:0003510	Severe short stature	1/1	OMIM:612921
23363	OBSL1	HP:0003510	Severe short stature	7/7	OMIM:615777
23363	OBSL1	HP:0003691	Scapular winging	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0003691	Scapular winging	2/8	OMIM:612921
23363	OBSL1	HP:0002315	Headache	-	OMIM:131300
23363	OBSL1	HP:0004976	Knee dislocation	6/7	OMIM:615777
23363	OBSL1	HP:0100659	Abnormal cerebral vascular morphology	HP:0040283	ORPHA:2616
23363	OBSL1	HP:0009811	Abnormality of the elbow	HP:0040282	ORPHA:2616
23363	OBSL1	HP:0100625	Enlarged thorax	HP:0040282	ORPHA:2616
23363	OBSL1	HP:0009803	Short phalanx of finger	-	OMIM:615777
23363	OBSL1	HP:0009763	Limb pain	63/92	OMIM:131300
23363	OBSL1	HP:0003621	Juvenile onset	-	OMIM:131300
23363	OBSL1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
23363	OBSL1	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:2616
23363	OBSL1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
23363	OBSL1	HP:6001056	Out-toeing	-	OMIM:131300
23363	OBSL1	HP:0000651	Diplopia	-	OMIM:131300
23363	OBSL1	HP:0001956	Truncal obesity	2/7	OMIM:615777
23363	OBSL1	HP:0001903	Anemia	HP:0040283	OMIM:131300
23363	OBSL1	HP:0010049	Short metacarpal	-	OMIM:615777
23363	OBSL1	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:2616
23363	OBSL1	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:2616
23363	OBSL1	HP:0000684	Delayed eruption of teeth	-	OMIM:612921
23363	OBSL1	HP:0000678	Dental crowding	-	OMIM:615777
23363	OBSL1	HP:0000689	Dental malocclusion	-	OMIM:612921
23363	OBSL1	HP:0000670	Carious teeth	-	OMIM:131300
23363	OBSL1	HP:0011304	Broad thumb	2/7	OMIM:615777
23363	OBSL1	HP:0000668	Hypodontia	-	OMIM:615777
23363	OBSL1	HP:0000664	Synophrys	-	OMIM:615777
23363	OBSL1	HP:0004322	Short stature	1/1	OMIM:612921
23363	OBSL1	HP:0004322	Short stature	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0004396	Poor appetite	-	OMIM:131300
23363	OBSL1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
23363	OBSL1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
23363	OBSL1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
23363	OBSL1	HP:0003026	Short long bone	7/7	OMIM:615777
23363	OBSL1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
23363	OBSL1	HP:0003022	Hypoplasia of the ulna	HP:0040282	ORPHA:2616
23363	OBSL1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
23363	OBSL1	HP:0000768	Pectus carinatum	1/1	OMIM:612921
23363	OBSL1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
23363	OBSL1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
23363	OBSL1	HP:0000750	Delayed speech and language development	-	OMIM:615777
23363	OBSL1	HP:0011461	Fetal onset	1/1	OMIM:612921
23363	OBSL1	HP:0011461	Fetal onset	7/7	OMIM:615777
23363	OBSL1	HP:0000774	Narrow chest	2/7	OMIM:615777
23363	OBSL1	HP:0003100	Slender long bone	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0003100	Slender long bone	5/9	OMIM:612921
23363	OBSL1	HP:0000926	Platyspondyly	1/7	OMIM:615777
23363	OBSL1	HP:0003175	Hypoplastic ischia	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0003173	Hypoplastic pubic bone	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0003180	Flat acetabular roof	-	OMIM:615777
23363	OBSL1	HP:0004482	Relative macrocephaly	-	OMIM:612921
23363	OBSL1	HP:0004482	Relative macrocephaly	-	OMIM:615777
23363	OBSL1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
23363	OBSL1	HP:0000888	Horizontal ribs	HP:0040282	ORPHA:2616
23363	OBSL1	HP:0000883	Thin ribs	HP:0040282	ORPHA:2616
23363	OBSL1	HP:0000883	Thin ribs	-	OMIM:612921
23363	OBSL1	HP:0000823	Delayed puberty	-	OMIM:131300
23363	OBSL1	HP:0000894	Short clavicles	-	OMIM:615777
23363	OBSL1	HP:0009237	Short 5th finger	-	OMIM:612921
23363	OBSL1	HP:0004570	Increased vertebral height	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
23363	OBSL1	HP:0010306	Short thorax	HP:0040282	ORPHA:2616
23363	OBSL1	HP:0010306	Short thorax	-	OMIM:612921
23363	OBSL1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
23363	OBSL1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0000286	Epicanthus	1/7	OMIM:615777
23363	OBSL1	HP:0000280	Coarse facial features	2/7	OMIM:615777
23363	OBSL1	HP:0000272	Malar flattening	1/1	OMIM:612921
23363	OBSL1	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:2616
23363	OBSL1	HP:0000268	Dolichocephaly	7/8	OMIM:612921
23363	OBSL1	HP:0002827	Hip dislocation	3/7	OMIM:615777
23363	OBSL1	HP:0030084	Clinodactyly	1/1	OMIM:612921
23363	OBSL1	HP:0002808	Kyphosis	HP:0040283	ORPHA:2616
23363	OBSL1	HP:0000252	Microcephaly	-	OMIM:615777
23363	OBSL1	HP:0000218	High palate	-	OMIM:612921
23363	OBSL1	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0002857	Genu valgum	-	OMIM:131300
23363	OBSL1	HP:0001533	Slender build	-	OMIM:131300
23363	OBSL1	HP:0001518	Small for gestational age	1/1	OMIM:612921
23363	OBSL1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0001511	Intrauterine growth retardation	1/1	OMIM:612921
23363	OBSL1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
23363	OBSL1	HP:0007807	Optic nerve compression	-	OMIM:131300
23363	OBSL1	HP:0012368	Flat face	7/7	OMIM:615777
23363	OBSL1	HP:0002938	Lumbar hyperlordosis	1/1	OMIM:612921
23363	OBSL1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
23363	OBSL1	HP:0000365	Hearing impairment	10/67	OMIM:131300
23363	OBSL1	HP:0000343	Long philtrum	HP:0040282	ORPHA:2616
23363	OBSL1	HP:0000343	Long philtrum	6/9	OMIM:612921
23363	OBSL1	HP:0000343	Long philtrum	1/7	OMIM:615777
23363	OBSL1	HP:0011001	Increased bone mineral density	-	OMIM:131300
23363	OBSL1	HP:0000337	Broad forehead	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0002983	Micromelia	HP:0040282	ORPHA:2616
23363	OBSL1	HP:0000311	Round face	2/7	OMIM:615777
23363	OBSL1	HP:0000325	Triangular face	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0000325	Triangular face	9/10	OMIM:612921
23363	OBSL1	HP:0002970	Genu varum	-	OMIM:615777
23363	OBSL1	HP:0000307	Pointed chin	HP:0040282	ORPHA:2616
23363	OBSL1	HP:0000307	Pointed chin	8/9	OMIM:612921
23363	OBSL1	HP:0000303	Mandibular prognathia	-	OMIM:131300
23363	OBSL1	HP:0005274	Prominent nasal tip	2/2	OMIM:612921
23363	OBSL1	HP:0005280	Depressed nasal bridge	1/1	OMIM:612921
23363	OBSL1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
23363	OBSL1	HP:0012471	Thick vermilion border	7/9	OMIM:612921
23363	OBSL1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0000463	Anteverted nares	9/9	OMIM:612921
23363	OBSL1	HP:0000470	Short neck	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0000470	Short neck	5/8	OMIM:612921
23363	OBSL1	HP:0000470	Short neck	1/7	OMIM:615777
23363	OBSL1	HP:0012428	Prominent calcaneus	8/8	OMIM:612921
23363	OBSL1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
23363	OBSL1	HP:0001763	Pes planus	1/7	OMIM:615777
23363	OBSL1	HP:0000414	Bulbous nose	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0000411	Protruding ear	HP:0040282	ORPHA:2616
23363	OBSL1	HP:0000411	Protruding ear	5/8	OMIM:612921
23363	OBSL1	HP:0001840	Metatarsus adductus	-	OMIM:615777
23363	OBSL1	HP:0000520	Proptosis	2/4	OMIM:131300
23363	OBSL1	HP:0000520	Proptosis	7/7	OMIM:615777
23363	OBSL1	HP:0001838	Rocker bottom foot	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0000592	Blue sclerae	2/7	OMIM:615777
23363	OBSL1	HP:0011220	Prominent forehead	1/1	OMIM:612921
23363	OBSL1	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:2616
23363	OBSL1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
23363	OBSL1	HP:0012514	Lower limb pain	4/4	OMIM:131300
23370	ARHGEF18	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
23370	ARHGEF18	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
23370	ARHGEF18	HP:0001123	Visual field defect	3/3	OMIM:617433
23370	ARHGEF18	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
23370	ARHGEF18	HP:0000007	Autosomal recessive inheritance	-	OMIM:617433
23370	ARHGEF18	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
23370	ARHGEF18	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
23370	ARHGEF18	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
23370	ARHGEF18	HP:0007663	Reduced visual acuity	3/3	OMIM:617433
23370	ARHGEF18	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
23370	ARHGEF18	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
23370	ARHGEF18	HP:0003621	Juvenile onset	8/19	OMIM:180100
23370	ARHGEF18	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
23370	ARHGEF18	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
23370	ARHGEF18	HP:0000618	Blindness	HP:0040281	ORPHA:791
23370	ARHGEF18	HP:0000613	Photophobia	HP:0040281	ORPHA:791
23370	ARHGEF18	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
23370	ARHGEF18	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
23370	ARHGEF18	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
23370	ARHGEF18	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
23370	ARHGEF18	HP:0000662	Nyctalopia	3/3	OMIM:617433
23370	ARHGEF18	HP:0000662	Nyctalopia	26/28	OMIM:180100
23370	ARHGEF18	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
23370	ARHGEF18	HP:0011463	Childhood onset	3/19	OMIM:180100
23370	ARHGEF18	HP:0011462	Young adult onset	3/3	OMIM:617433
23370	ARHGEF18	HP:0011462	Young adult onset	8/19	OMIM:180100
23370	ARHGEF18	HP:0030786	Photopsia	HP:0040283	ORPHA:791
23370	ARHGEF18	HP:0030786	Photopsia	2/3	OMIM:617433
23370	ARHGEF18	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
23370	ARHGEF18	HP:0011505	Cystoid macular edema	2/3	OMIM:617433
23370	ARHGEF18	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
23370	ARHGEF18	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
23370	ARHGEF18	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
23370	ARHGEF18	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
23370	ARHGEF18	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
23370	ARHGEF18	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
23370	ARHGEF18	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
23370	ARHGEF18	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
23370	ARHGEF18	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
23370	ARHGEF18	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
23370	ARHGEF18	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
23370	ARHGEF18	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
23370	ARHGEF18	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
23370	ARHGEF18	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
23370	ARHGEF18	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
23370	ARHGEF18	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
23370	ARHGEF18	HP:0000575	Scotoma	5/18	OMIM:180100
23370	ARHGEF18	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
23370	ARHGEF18	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
23370	ARHGEF18	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
23370	ARHGEF18	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
23370	ARHGEF18	HP:0000543	Optic disc pallor	2/3	OMIM:617433
23370	ARHGEF18	HP:0000543	Optic disc pallor	1/1	OMIM:180100
23370	ARHGEF18	HP:0000545	Myopia	-	OMIM:180100
23384	SPECC1L	HP:0001169	Broad palm	-	OMIM:145420
23384	SPECC1L	HP:0001156	Brachydactyly	HP:0040282	ORPHA:1519
23384	SPECC1L	HP:0001195	Single umbilical artery	1/2	OMIM:145420
23384	SPECC1L	HP:0003745	Sporadic	-	OMIM:600251
23384	SPECC1L	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
23384	SPECC1L	HP:0025269	Panic attack	1/2	OMIM:145420
23384	SPECC1L	HP:0001293	Cranial nerve compression	-	OMIM:131300
23384	SPECC1L	HP:0001252	Hypotonia	2/7	OMIM:615777
23384	SPECC1L	HP:0001249	Intellectual disability	5/7	OMIM:615777
23384	SPECC1L	HP:0001263	Global developmental delay	1/2	OMIM:145420
23384	SPECC1L	HP:0001263	Global developmental delay	-	OMIM:615777
23384	SPECC1L	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:1519
23384	SPECC1L	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:1519
23384	SPECC1L	HP:0002553	Highly arched eyebrow	-	OMIM:145420
23384	SPECC1L	HP:0002515	Waddling gait	54/102	OMIM:131300
23384	SPECC1L	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:1519
23384	SPECC1L	HP:0001382	Joint hypermobility	-	OMIM:615777
23384	SPECC1L	HP:0000049	Shawl scrotum	1/2	OMIM:145420
23384	SPECC1L	HP:0000049	Shawl scrotum	HP:0040282	ORPHA:1519
23384	SPECC1L	HP:0002694	Sclerosis of skull base	-	OMIM:131300
23384	SPECC1L	HP:0000034	Hydrocele testis	1/2	OMIM:145420
23384	SPECC1L	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1519
23384	SPECC1L	HP:0008897	Postnatal growth retardation	-	OMIM:615777
23384	SPECC1L	HP:0006191	Deep palmar crease	HP:0040283	OMIM:600251
23384	SPECC1L	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
23384	SPECC1L	HP:0001324	Muscle weakness	40/96	OMIM:131300
23384	SPECC1L	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
23384	SPECC1L	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
23384	SPECC1L	HP:0000006	Autosomal dominant inheritance	-	OMIM:145420
23384	SPECC1L	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
23384	SPECC1L	HP:0000006	Autosomal dominant inheritance	-	OMIM:600251
23384	SPECC1L	HP:0002650	Scoliosis	12/14	OMIM:131300
23384	SPECC1L	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
23384	SPECC1L	HP:0002616	Aortic root aneurysm	1/2	OMIM:145420
23384	SPECC1L	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
23384	SPECC1L	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
23384	SPECC1L	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
23384	SPECC1L	HP:0001488	Bilateral ptosis	1/2	OMIM:145420
23384	SPECC1L	HP:0000175	Cleft palate	1/1	OMIM:600251
23384	SPECC1L	HP:0000175	Cleft palate	2/7	OMIM:615777
23384	SPECC1L	HP:0006288	Advanced eruption of teeth	HP:0040283	ORPHA:1519
23384	SPECC1L	HP:0002007	Frontal bossing	1/2	OMIM:145420
23384	SPECC1L	HP:0002089	Pulmonary hypoplasia	1/2	OMIM:145420
23384	SPECC1L	HP:0003388	Easy fatigability	36/76	OMIM:131300
23384	SPECC1L	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
23384	SPECC1L	HP:0010458	Female pseudohermaphroditism	HP:0040283	ORPHA:1519
23384	SPECC1L	HP:0003577	Congenital onset	1/1	OMIM:600251
23384	SPECC1L	HP:0003577	Congenital onset	2/2	OMIM:145420
23384	SPECC1L	HP:0003510	Severe short stature	7/7	OMIM:615777
23384	SPECC1L	HP:0020073	Hypopigmented macule	1/2	OMIM:145420
23384	SPECC1L	HP:0002315	Headache	-	OMIM:131300
23384	SPECC1L	HP:0004976	Knee dislocation	6/7	OMIM:615777
23384	SPECC1L	HP:0009803	Short phalanx of finger	-	OMIM:615777
23384	SPECC1L	HP:0200055	Small hand	11/12	OMIM:145420
23384	SPECC1L	HP:0010751	Dimple chin	HP:0040283	ORPHA:1519
23384	SPECC1L	HP:0009763	Limb pain	63/92	OMIM:131300
23384	SPECC1L	HP:0003621	Juvenile onset	-	OMIM:131300
23384	SPECC1L	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
23384	SPECC1L	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1519
23384	SPECC1L	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
23384	SPECC1L	HP:6001056	Out-toeing	-	OMIM:131300
23384	SPECC1L	HP:0000651	Diplopia	-	OMIM:131300
23384	SPECC1L	HP:0001956	Truncal obesity	2/7	OMIM:615777
23384	SPECC1L	HP:0001903	Anemia	HP:0040283	OMIM:131300
23384	SPECC1L	HP:0010049	Short metacarpal	-	OMIM:615777
23384	SPECC1L	HP:0000678	Dental crowding	-	OMIM:615777
23384	SPECC1L	HP:0000678	Dental crowding	1/2	OMIM:145420
23384	SPECC1L	HP:0000695	Natal tooth	3/5	OMIM:145420
23384	SPECC1L	HP:0000670	Carious teeth	-	OMIM:131300
23384	SPECC1L	HP:0011304	Broad thumb	2/7	OMIM:615777
23384	SPECC1L	HP:0000668	Hypodontia	-	OMIM:615777
23384	SPECC1L	HP:0000664	Synophrys	-	OMIM:615777
23384	SPECC1L	HP:0004322	Short stature	-	OMIM:145420
23384	SPECC1L	HP:0004396	Poor appetite	-	OMIM:131300
23384	SPECC1L	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
23384	SPECC1L	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
23384	SPECC1L	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
23384	SPECC1L	HP:0003026	Short long bone	7/7	OMIM:615777
23384	SPECC1L	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
23384	SPECC1L	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:1519
23384	SPECC1L	HP:0000767	Pectus excavatum	2/7	OMIM:615777
23384	SPECC1L	HP:0000768	Pectus carinatum	1/7	OMIM:615777
23384	SPECC1L	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
23384	SPECC1L	HP:0000739	Anxiety	1/2	OMIM:145420
23384	SPECC1L	HP:0000750	Delayed speech and language development	-	OMIM:615777
23384	SPECC1L	HP:0000729	Autistic behavior	1/2	OMIM:145420
23384	SPECC1L	HP:0011461	Fetal onset	7/7	OMIM:615777
23384	SPECC1L	HP:0000774	Narrow chest	2/7	OMIM:615777
23384	SPECC1L	HP:0004442	Sagittal craniosynostosis	1/2	OMIM:145420
23384	SPECC1L	HP:0004440	Coronal craniosynostosis	1/2	OMIM:145420
23384	SPECC1L	HP:0003196	Short nose	HP:0040282	ORPHA:1519
23384	SPECC1L	HP:0003196	Short nose	-	OMIM:145420
23384	SPECC1L	HP:0000926	Platyspondyly	1/7	OMIM:615777
23384	SPECC1L	HP:0003180	Flat acetabular roof	-	OMIM:615777
23384	SPECC1L	HP:0004482	Relative macrocephaly	-	OMIM:615777
23384	SPECC1L	HP:0004467	Preauricular pit	HP:0040282	ORPHA:1519
23384	SPECC1L	HP:0004467	Preauricular pit	3/3	OMIM:145420
23384	SPECC1L	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
23384	SPECC1L	HP:0000813	Bicornuate uterus	1/2	OMIM:145420
23384	SPECC1L	HP:0000823	Delayed puberty	-	OMIM:131300
23384	SPECC1L	HP:0000894	Short clavicles	-	OMIM:615777
23384	SPECC1L	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
23384	SPECC1L	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
23384	SPECC1L	HP:0011675	Arrhythmia	HP:0040283	ORPHA:1519
23384	SPECC1L	HP:0000286	Epicanthus	1/7	OMIM:615777
23384	SPECC1L	HP:0000280	Coarse facial features	2/7	OMIM:615777
23384	SPECC1L	HP:0002827	Hip dislocation	3/7	OMIM:615777
23384	SPECC1L	HP:0000252	Microcephaly	-	OMIM:615777
23384	SPECC1L	HP:0000248	Brachycephaly	HP:0040283	ORPHA:1519
23384	SPECC1L	HP:0000219	Thin upper lip vermilion	2/2	OMIM:145420
23384	SPECC1L	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:1519
23384	SPECC1L	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:1519
23384	SPECC1L	HP:0002857	Genu valgum	-	OMIM:131300
23384	SPECC1L	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:1519
23384	SPECC1L	HP:0001539	Omphalocele	HP:0040283	ORPHA:1519
23384	SPECC1L	HP:0001539	Omphalocele	1/2	OMIM:145420
23384	SPECC1L	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:1519
23384	SPECC1L	HP:0001533	Slender build	-	OMIM:131300
23384	SPECC1L	HP:0000204	Cleft upper lip	-	OMIM:600251
23384	SPECC1L	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
23384	SPECC1L	HP:0007807	Optic nerve compression	-	OMIM:131300
23384	SPECC1L	HP:0011039	Abnormal helix morphology	HP:0040282	ORPHA:1519
23384	SPECC1L	HP:0012368	Flat face	7/7	OMIM:615777
23384	SPECC1L	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
23384	SPECC1L	HP:0000365	Hearing impairment	10/67	OMIM:131300
23384	SPECC1L	HP:0000369	Low-set ears	HP:0040282	ORPHA:1519
23384	SPECC1L	HP:0000343	Long philtrum	HP:0040281	ORPHA:1519
23384	SPECC1L	HP:0000343	Long philtrum	1/2	OMIM:145420
23384	SPECC1L	HP:0000343	Long philtrum	1/7	OMIM:615777
23384	SPECC1L	HP:0011001	Increased bone mineral density	-	OMIM:131300
23384	SPECC1L	HP:0000349	Widow's peak	-	OMIM:145420
23384	SPECC1L	HP:0000349	Widow's peak	HP:0040282	ORPHA:1519
23384	SPECC1L	HP:0000347	Micrognathia	1/2	OMIM:145420
23384	SPECC1L	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1519
23384	SPECC1L	HP:0000316	Hypertelorism	4/5	OMIM:145420
23384	SPECC1L	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1519
23384	SPECC1L	HP:0000311	Round face	HP:0040282	ORPHA:1519
23384	SPECC1L	HP:0000311	Round face	2/7	OMIM:615777
23384	SPECC1L	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:1519
23384	SPECC1L	HP:0001629	Ventricular septal defect	2/2	OMIM:145420
23384	SPECC1L	HP:0002970	Genu varum	-	OMIM:615777
23384	SPECC1L	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1519
23384	SPECC1L	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1519
23384	SPECC1L	HP:0001631	Atrial septal defect	1/2	OMIM:145420
23384	SPECC1L	HP:0000303	Mandibular prognathia	-	OMIM:131300
23384	SPECC1L	HP:0005280	Depressed nasal bridge	-	OMIM:145420
23384	SPECC1L	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
23384	SPECC1L	HP:0000486	Strabismus	HP:0040283	ORPHA:1519
23384	SPECC1L	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:1519
23384	SPECC1L	HP:0000494	Downslanted palpebral fissures	-	OMIM:145420
23384	SPECC1L	HP:0000463	Anteverted nares	1/2	OMIM:145420
23384	SPECC1L	HP:0000470	Short neck	1/7	OMIM:615777
23384	SPECC1L	HP:0031576	Tessier number 4 facial cleft	1/1	OMIM:600251
23384	SPECC1L	HP:0001769	Broad foot	HP:0040283	OMIM:615777
23384	SPECC1L	HP:0001763	Pes planus	1/7	OMIM:615777
23384	SPECC1L	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:1519
23384	SPECC1L	HP:0000431	Wide nasal bridge	-	OMIM:145420
23384	SPECC1L	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:1519
23384	SPECC1L	HP:0001840	Metatarsus adductus	-	OMIM:615777
23384	SPECC1L	HP:0000520	Proptosis	HP:0040283	ORPHA:1519
23384	SPECC1L	HP:0000520	Proptosis	2/4	OMIM:131300
23384	SPECC1L	HP:0000520	Proptosis	7/7	OMIM:615777
23384	SPECC1L	HP:0000508	Ptosis	HP:0040282	ORPHA:1519
23384	SPECC1L	HP:0001831	Short toe	HP:0040282	ORPHA:1519
23384	SPECC1L	HP:0000582	Upslanted palpebral fissure	1/2	OMIM:145420
23384	SPECC1L	HP:0000592	Blue sclerae	2/7	OMIM:615777
23384	SPECC1L	HP:0000589	Coloboma	HP:0040283	OMIM:600251
23384	SPECC1L	HP:0011220	Prominent forehead	HP:0040282	ORPHA:1519
23384	SPECC1L	HP:0011220	Prominent forehead	-	OMIM:145420
23384	SPECC1L	HP:0001884	Talipes calcaneovalgus	1/1	OMIM:600251
23384	SPECC1L	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:1519
23384	SPECC1L	HP:0000568	Microphthalmia	1/1	OMIM:600251
23384	SPECC1L	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
23384	SPECC1L	HP:0012514	Lower limb pain	4/4	OMIM:131300
23385	NCSTN	HP:0000006	Autosomal dominant inheritance	-	OMIM:142690
23385	NCSTN	HP:0000987	Atypical scarring of skin	-	OMIM:142690
23385	NCSTN	HP:0040154	Acne inversa	-	OMIM:142690
23387	SIK3	HP:0001156	Brachydactyly	2/2	OMIM:618162
23387	SIK3	HP:0009891	Underdeveloped supraorbital ridges	2/2	OMIM:618162
23387	SIK3	HP:0001250	Seizure	1/2	OMIM:618162
23387	SIK3	HP:0001263	Global developmental delay	2/2	OMIM:618162
23387	SIK3	HP:0025336	Delayed ability to sit	1/2	OMIM:618162
23387	SIK3	HP:0002694	Sclerosis of skull base	2/2	OMIM:618162
23387	SIK3	HP:0002691	Platybasia	1/2	OMIM:618162
23387	SIK3	HP:0008788	Delayed pubic bone ossification	2/2	OMIM:618162
23387	SIK3	HP:0000007	Autosomal recessive inheritance	-	OMIM:618162
23387	SIK3	HP:0008905	Rhizomelia	2/2	OMIM:618162
23387	SIK3	HP:0002721	Immunodeficiency	2/2	OMIM:618162
23387	SIK3	HP:0002019	Constipation	1/2	OMIM:618162
23387	SIK3	HP:0004691	2-3 toe syndactyly	2/2	OMIM:618162
23387	SIK3	HP:0002007	Frontal bossing	2/2	OMIM:618162
23387	SIK3	HP:0002099	Asthma	2/2	OMIM:618162
23387	SIK3	HP:0010582	Irregular epiphyses	2/2	OMIM:618162
23387	SIK3	HP:0003577	Congenital onset	2/2	OMIM:618162
23387	SIK3	HP:0011968	Feeding difficulties	1/2	OMIM:618162
23387	SIK3	HP:0002308	Chiari malformation	2/2	OMIM:618162
23387	SIK3	HP:0004209	Clinodactyly of the 5th finger	2/2	OMIM:618162
23387	SIK3	HP:0003049	Ulnar deviation of the wrist	2/2	OMIM:618162
23387	SIK3	HP:0003027	Mesomelia	2/2	OMIM:618162
23387	SIK3	HP:0003025	Metaphyseal irregularity	2/2	OMIM:618162
23387	SIK3	HP:0000767	Pectus excavatum	2/2	OMIM:618162
23387	SIK3	HP:0000750	Delayed speech and language development	1/2	OMIM:618162
23387	SIK3	HP:0003193	Allergic rhinitis	2/2	OMIM:618162
23387	SIK3	HP:0003155	Elevated circulating alkaline phosphatase concentration	2/2	OMIM:618162
23387	SIK3	HP:0034391	Elbow contracture	2/2	OMIM:618162
23387	SIK3	HP:0000978	Bruising susceptibility	2/2	OMIM:618162
23387	SIK3	HP:0000964	Eczematoid dermatitis	2/2	OMIM:618162
23387	SIK3	HP:0006380	Knee flexion contracture	2/2	OMIM:618162
23387	SIK3	HP:0000238	Hydrocephalus	1/2	OMIM:618162
23387	SIK3	HP:0000218	High palate	2/2	OMIM:618162
23387	SIK3	HP:0002850	Decreased circulating total IgM	2/2	OMIM:618162
23387	SIK3	HP:0000316	Hypertelorism	2/2	OMIM:618162
23387	SIK3	HP:0001643	Patent ductus arteriosus	1/2	OMIM:618162
23387	SIK3	HP:0001631	Atrial septal defect	1/2	OMIM:618162
23387	SIK3	HP:0001734	Annular pancreas	1/2	OMIM:618162
23387	SIK3	HP:0030353	Decreased serum insulin-like growth factor 1	1/1	OMIM:618162
23389	MED13L	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:369891
23389	MED13L	HP:0001159	Syndactyly	HP:0040283	ORPHA:369891
23389	MED13L	HP:0002465	Poor speech	HP:0040282	ORPHA:369891
23389	MED13L	HP:0002465	Poor speech	-	OMIM:616789
23389	MED13L	HP:0001290	Generalized hypotonia	-	OMIM:616789
23389	MED13L	HP:0001270	Motor delay	-	OMIM:616789
23389	MED13L	HP:0001270	Motor delay	HP:0040281	ORPHA:369891
23389	MED13L	HP:0001252	Hypotonia	HP:0040282	ORPHA:369891
23389	MED13L	HP:0001251	Ataxia	-	OMIM:616789
23389	MED13L	HP:0001251	Ataxia	HP:0040283	ORPHA:369891
23389	MED13L	HP:0001260	Dysarthria	-	OMIM:616789
23389	MED13L	HP:0001263	Global developmental delay	-	OMIM:616789
23389	MED13L	HP:0001263	Global developmental delay	HP:0040281	ORPHA:369891
23389	MED13L	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:369891
23389	MED13L	HP:0001357	Plagiocephaly	-	OMIM:616789
23389	MED13L	HP:0000028	Cryptorchidism	-	OMIM:616789
23389	MED13L	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:369891
23389	MED13L	HP:0001328	Specific learning disability	HP:0040282	ORPHA:369891
23389	MED13L	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
23389	MED13L	HP:0000006	Autosomal dominant inheritance	-	OMIM:616789
23389	MED13L	HP:0000194	Open mouth	HP:0040282	ORPHA:369891
23389	MED13L	HP:0000194	Open mouth	-	OMIM:616789
23389	MED13L	HP:0000158	Macroglossia	HP:0040282	ORPHA:369891
23389	MED13L	HP:0000158	Macroglossia	-	OMIM:616789
23389	MED13L	HP:0000154	Wide mouth	HP:0040282	ORPHA:369891
23389	MED13L	HP:0000154	Wide mouth	-	OMIM:616789
23389	MED13L	HP:0007633	Bilateral microphthalmos	HP:0040283	ORPHA:369891
23389	MED13L	HP:0002719	Recurrent infections	-	OMIM:616789
23389	MED13L	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:369891
23389	MED13L	HP:0002007	Frontal bossing	-	OMIM:616789
23389	MED13L	HP:0011800	Midface retrusion	HP:0040283	ORPHA:369891
23389	MED13L	HP:0003593	Infantile onset	-	OMIM:616789
23389	MED13L	HP:0002236	Frontal upsweep of hair	HP:0040283	ORPHA:369891
23389	MED13L	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:369891
23389	MED13L	HP:0002342	Intellectual disability, moderate	-	OMIM:616789
23389	MED13L	HP:0002353	EEG abnormality	HP:0040283	ORPHA:369891
23389	MED13L	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:369891
23389	MED13L	HP:0010841	Multifocal epileptiform discharges	HP:0040283	ORPHA:369891
23389	MED13L	HP:0002311	Incoordination	HP:0040283	ORPHA:369891
23389	MED13L	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
23389	MED13L	HP:0000687	Widely spaced teeth	HP:0040283	ORPHA:369891
23389	MED13L	HP:0004322	Short stature	HP:0040283	ORPHA:369891
23389	MED13L	HP:0005612	Arthrogryposis-like hand anomaly	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000752	Hyperactivity	HP:0040283	ORPHA:369891
23389	MED13L	HP:0100025	Overfriendliness	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:369891
23389	MED13L	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000717	Autism	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000717	Autism	-	OMIM:616789
23389	MED13L	HP:0000711	Restlessness	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000713	Agitation	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000729	Autistic behavior	HP:0040282	ORPHA:369891
23389	MED13L	HP:0000708	Atypical behavior	HP:0040282	ORPHA:369891
23389	MED13L	HP:0003196	Short nose	HP:0040283	ORPHA:369891
23389	MED13L	HP:0004467	Preauricular pit	-	OMIM:187500
23389	MED13L	HP:0007700	Ocular anterior segment dysgenesis	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000286	Epicanthus	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000294	Low anterior hairline	HP:0040283	ORPHA:369891
23389	MED13L	HP:0030084	Clinodactyly	HP:0040283	ORPHA:369891
23389	MED13L	HP:0030084	Clinodactyly	-	OMIM:616789
23389	MED13L	HP:0000248	Brachycephaly	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000248	Brachycephaly	-	OMIM:616789
23389	MED13L	HP:0000218	High palate	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000232	Everted lower lip vermilion	-	OMIM:616789
23389	MED13L	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:369891
23389	MED13L	HP:0012385	Camptodactyly	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000365	Hearing impairment	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000369	Low-set ears	-	OMIM:616789
23389	MED13L	HP:0000369	Low-set ears	HP:0040282	ORPHA:369891
23389	MED13L	HP:0000341	Narrow forehead	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000341	Narrow forehead	-	OMIM:616789
23389	MED13L	HP:0001669	Transposition of the great arteries	HP:0040283	OMIM:616789
23389	MED13L	HP:0000337	Broad forehead	-	OMIM:187500
23389	MED13L	HP:0000337	Broad forehead	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000316	Hypertelorism	-	OMIM:616789
23389	MED13L	HP:0000316	Hypertelorism	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000311	Round face	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000311	Round face	-	OMIM:616789
23389	MED13L	HP:0000325	Triangular face	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000325	Triangular face	-	OMIM:616789
23389	MED13L	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:369891
23389	MED13L	HP:0001655	Patent foramen ovale	-	OMIM:616789
23389	MED13L	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:369891
23389	MED13L	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:369891
23389	MED13L	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
23389	MED13L	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000400	Macrotia	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000400	Macrotia	-	OMIM:616789
23389	MED13L	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:369891
23389	MED13L	HP:0005280	Depressed nasal bridge	-	OMIM:616789
23389	MED13L	HP:0000486	Strabismus	-	OMIM:616789
23389	MED13L	HP:0000470	Short neck	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000470	Short neck	-	OMIM:616789
23389	MED13L	HP:0000414	Bulbous nose	HP:0040282	ORPHA:369891
23389	MED13L	HP:0000414	Bulbous nose	-	OMIM:616789
23389	MED13L	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:369891
23389	MED13L	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:616789
23389	MED13L	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:369891
23389	MED13L	HP:0000520	Proptosis	-	OMIM:187500
23389	MED13L	HP:0000508	Ptosis	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:369891
23389	MED13L	HP:0000582	Upslanted palpebral fissure	-	OMIM:616789
23389	MED13L	HP:0011228	Horizontal eyebrow	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000589	Coloboma	-	OMIM:616789
23389	MED13L	HP:0011220	Prominent forehead	-	OMIM:616789
23389	MED13L	HP:0000540	Hypermetropia	HP:0040283	ORPHA:369891
23389	MED13L	HP:0000545	Myopia	HP:0040283	ORPHA:369891
23394	ADNP	HP:0001182	Tapered finger	1/10	OMIM:615873
23394	ADNP	HP:0001156	Brachydactyly	HP:0040284	ORPHA:404448
23394	ADNP	HP:0001167	Abnormal finger morphology	HP:0040282	ORPHA:404448
23394	ADNP	HP:0001118	Juvenile cataract	HP:0040284	ORPHA:404448
23394	ADNP	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:404448
23394	ADNP	HP:0009890	High anterior hairline	HP:0040283	ORPHA:404448
23394	ADNP	HP:0009890	High anterior hairline	33/66	OMIM:615873
23394	ADNP	HP:0008551	Microtia	HP:0040283	ORPHA:404448
23394	ADNP	HP:0002421	Poor head control	1/10	OMIM:615873
23394	ADNP	HP:0003763	Bruxism	1/10	OMIM:615873
23394	ADNP	HP:0001276	Hypertonia	HP:0040284	ORPHA:404448
23394	ADNP	HP:0001270	Motor delay	1/10	OMIM:615873
23394	ADNP	HP:0001250	Seizure	HP:0040284	ORPHA:404448
23394	ADNP	HP:0001250	Seizure	1/10	OMIM:615873
23394	ADNP	HP:0001252	Hypotonia	6/10	OMIM:615873
23394	ADNP	HP:0001249	Intellectual disability	10/10	OMIM:615873
23394	ADNP	HP:0002591	Polyphagia	HP:0040282	ORPHA:404448
23394	ADNP	HP:0002591	Polyphagia	1/10	OMIM:615873
23394	ADNP	HP:0001263	Global developmental delay	HP:0040281	ORPHA:404448
23394	ADNP	HP:0001263	Global developmental delay	4/10	OMIM:615873
23394	ADNP	HP:0002572	Episodic vomiting	1/10	OMIM:615873
23394	ADNP	HP:0001212	Prominent fingertip pads	1/10	OMIM:615873
23394	ADNP	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:404448
23394	ADNP	HP:0001382	Joint hypermobility	3/10	OMIM:615873
23394	ADNP	HP:0000023	Inguinal hernia	HP:0040284	ORPHA:404448
23394	ADNP	HP:0000020	Urinary incontinence	HP:0040281	ORPHA:404448
23394	ADNP	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:404448
23394	ADNP	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:404448
23394	ADNP	HP:0000028	Cryptorchidism	1/10	OMIM:615873
23394	ADNP	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:404448
23394	ADNP	HP:0000010	Recurrent urinary tract infections	2/10	OMIM:615873
23394	ADNP	HP:0001344	Absent speech	1/10	OMIM:615873
23394	ADNP	HP:0000006	Autosomal dominant inheritance	-	OMIM:615873
23394	ADNP	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
23394	ADNP	HP:0002650	Scoliosis	1/10	OMIM:615873
23394	ADNP	HP:0000179	Thick lower lip vermilion	HP:0040283	ORPHA:404448
23394	ADNP	HP:0000179	Thick lower lip vermilion	20/55	OMIM:615873
23394	ADNP	HP:0001488	Bilateral ptosis	HP:0040283	ORPHA:404448
23394	ADNP	HP:0001488	Bilateral ptosis	1/10	OMIM:615873
23394	ADNP	HP:0000154	Wide mouth	14/66	OMIM:615873
23394	ADNP	HP:0007651	Ectropion of lower eyelids	1/10	OMIM:615873
23394	ADNP	HP:0008947	Floppy infant	HP:0040282	ORPHA:404448
23394	ADNP	HP:0008935	Generalized neonatal hypotonia	HP:0040284	ORPHA:404448
23394	ADNP	HP:0002705	High, narrow palate	1/10	OMIM:615873
23394	ADNP	HP:0006288	Advanced eruption of teeth	HP:0040283	ORPHA:404448
23394	ADNP	HP:0006288	Advanced eruption of teeth	44/54	OMIM:615873
23394	ADNP	HP:0002788	Recurrent upper respiratory tract infections	HP:0040283	ORPHA:404448
23394	ADNP	HP:0000105	Enlarged kidney	1/10	OMIM:615873
23394	ADNP	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:404448
23394	ADNP	HP:0002020	Gastroesophageal reflux	1/10	OMIM:615873
23394	ADNP	HP:0002019	Constipation	2/10	OMIM:615873
23394	ADNP	HP:0004691	2-3 toe syndactyly	HP:0040284	ORPHA:404448
23394	ADNP	HP:0002028	Chronic diarrhea	1/10	OMIM:615873
23394	ADNP	HP:0002015	Dysphagia	1/10	OMIM:615873
23394	ADNP	HP:0002013	Vomiting	HP:0040283	ORPHA:404448
23394	ADNP	HP:0003307	Hyperlordosis	1/10	OMIM:615873
23394	ADNP	HP:0011800	Midface retrusion	1/10	OMIM:615873
23394	ADNP	HP:0002098	Respiratory distress	HP:0040284	ORPHA:404448
23394	ADNP	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:404448
23394	ADNP	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:404448
23394	ADNP	HP:0010442	Polydactyly	HP:0040283	ORPHA:404448
23394	ADNP	HP:0010442	Polydactyly	1/10	OMIM:615873
23394	ADNP	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:404448
23394	ADNP	HP:0002119	Ventriculomegaly	1/10	OMIM:615873
23394	ADNP	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:404448
23394	ADNP	HP:0002171	Gliosis	1/10	OMIM:615873
23394	ADNP	HP:0010529	Echolalia	1/10	OMIM:615873
23394	ADNP	HP:0003593	Infantile onset	3/10	OMIM:615873
23394	ADNP	HP:0003577	Congenital onset	1/10	OMIM:615873
23394	ADNP	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:404448
23394	ADNP	HP:0002209	Sparse scalp hair	HP:0040284	ORPHA:404448
23394	ADNP	HP:0002205	Recurrent respiratory infections	1/10	OMIM:615873
23394	ADNP	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:404448
23394	ADNP	HP:0007042	Focal white matter lesions	HP:0040283	ORPHA:404448
23394	ADNP	HP:0010677	Enuresis nocturna	1/10	OMIM:615873
23394	ADNP	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:404448
23394	ADNP	HP:0007018	Attention deficit hyperactivity disorder	2/10	OMIM:615873
23394	ADNP	HP:0011968	Feeding difficulties	2/10	OMIM:615873
23394	ADNP	HP:0010628	Facial palsy	1/10	OMIM:615873
23394	ADNP	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:404448
23394	ADNP	HP:0002376	Developmental regression	HP:0040283	ORPHA:404448
23394	ADNP	HP:0001007	Hirsutism	HP:0040284	ORPHA:404448
23394	ADNP	HP:0200006	Slanting of the palpebral fissure	HP:0040283	ORPHA:404448
23394	ADNP	HP:0200055	Small hand	-	OMIM:615873
23394	ADNP	HP:0003623	Neonatal onset	5/10	OMIM:615873
23394	ADNP	HP:0003621	Juvenile onset	1/10	OMIM:615873
23394	ADNP	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
23394	ADNP	HP:0004209	Clinodactyly of the 5th finger	1/10	OMIM:615873
23394	ADNP	HP:0000637	Long palpebral fissure	HP:0040284	ORPHA:404448
23394	ADNP	HP:0000646	Amblyopia	HP:0040284	ORPHA:404448
23394	ADNP	HP:0000612	Iris coloboma	HP:0040284	ORPHA:404448
23394	ADNP	HP:0000625	Eyelid coloboma	12/63	OMIM:615873
23394	ADNP	HP:0001956	Truncal obesity	HP:0040283	ORPHA:404448
23394	ADNP	HP:0001956	Truncal obesity	2/10	OMIM:615873
23394	ADNP	HP:0010055	Broad hallux	HP:0040284	ORPHA:404448
23394	ADNP	HP:0010055	Broad hallux	1/10	OMIM:615873
23394	ADNP	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:404448
23394	ADNP	HP:0012683	Pineal cyst	1/10	OMIM:615873
23394	ADNP	HP:0011343	Moderate global developmental delay	HP:0040282	ORPHA:404448
23394	ADNP	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:404448
23394	ADNP	HP:0000677	Oligodontia	1/10	OMIM:615873
23394	ADNP	HP:0000691	Microdontia	1/10	OMIM:615873
23394	ADNP	HP:0011327	Posterior plagiocephaly	1/10	OMIM:615873
23394	ADNP	HP:0000687	Widely spaced teeth	19/62	OMIM:615873
23394	ADNP	HP:0000670	Carious teeth	1/10	OMIM:615873
23394	ADNP	HP:0011304	Broad thumb	HP:0040284	ORPHA:404448
23394	ADNP	HP:0004322	Short stature	HP:0040283	ORPHA:404448
23394	ADNP	HP:0004322	Short stature	2/10	OMIM:615873
23394	ADNP	HP:0006956	Lateral ventricle dilatation	1/10	OMIM:615873
23394	ADNP	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:404448
23394	ADNP	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	OMIM:615873
23394	ADNP	HP:0012745	Short palpebral fissure	1/10	OMIM:615873
23394	ADNP	HP:0000752	Hyperactivity	-	OMIM:615873
23394	ADNP	HP:0000767	Pectus excavatum	1/10	OMIM:615873
23394	ADNP	HP:0000737	Irritability	1/10	OMIM:615873
23394	ADNP	HP:0000739	Anxiety	HP:0040282	ORPHA:404448
23394	ADNP	HP:0000739	Anxiety	3/10	OMIM:615873
23394	ADNP	HP:0000733	Motor stereotypy	2/10	OMIM:615873
23394	ADNP	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:404448
23394	ADNP	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:404448
23394	ADNP	HP:0000717	Autism	5/10	OMIM:615873
23394	ADNP	HP:0000729	Autistic behavior	HP:0040281	ORPHA:404448
23394	ADNP	HP:0000729	Autistic behavior	3/10	OMIM:615873
23394	ADNP	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:404448
23394	ADNP	HP:0000722	Compulsive behaviors	1/10	OMIM:615873
23394	ADNP	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:404448
23394	ADNP	HP:0012760	Reduced social responsiveness	HP:0040281	ORPHA:404448
23394	ADNP	HP:0012760	Reduced social responsiveness	1/10	OMIM:615873
23394	ADNP	HP:0003196	Short nose	32/73	OMIM:615873
23394	ADNP	HP:0004467	Preauricular pit	-	OMIM:187500
23394	ADNP	HP:0000817	Reduced eye contact	1/10	OMIM:615873
23394	ADNP	HP:0000824	Decreased response to growth hormone stimulation test	5/46	OMIM:615873
23394	ADNP	HP:0010296	Ankyloglossia	1/10	OMIM:615873
23394	ADNP	HP:0040082	Happy demeanor	1/10	OMIM:615873
23394	ADNP	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:404448
23394	ADNP	HP:0000963	Thin skin	2/10	OMIM:615873
23394	ADNP	HP:0045025	Narrow palpebral fissure	14/58	OMIM:615873
23394	ADNP	HP:0008093	Short 4th toe	1/10	OMIM:615873
23394	ADNP	HP:0000286	Epicanthus	1/10	OMIM:615873
23394	ADNP	HP:0000283	Broad face	1/10	OMIM:615873
23394	ADNP	HP:0000280	Coarse facial features	11/65	OMIM:615873
23394	ADNP	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:404448
23394	ADNP	HP:0000276	Long face	1/10	OMIM:615873
23394	ADNP	HP:0006385	Short lower limbs	1/10	OMIM:615873
23394	ADNP	HP:0000243	Trigonocephaly	HP:0040283	ORPHA:404448
23394	ADNP	HP:0000252	Microcephaly	HP:0040284	ORPHA:404448
23394	ADNP	HP:0000248	Brachycephaly	HP:0040284	ORPHA:404448
23394	ADNP	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:404448
23394	ADNP	HP:0000219	Thin upper lip vermilion	49/74	OMIM:615873
23394	ADNP	HP:0000233	Thin vermilion border	1/10	OMIM:615873
23394	ADNP	HP:0000232	Everted lower lip vermilion	25/55	OMIM:615873
23394	ADNP	HP:0002857	Genu valgum	1/10	OMIM:615873
23394	ADNP	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:404448
23394	ADNP	HP:0001508	Failure to thrive	1/10	OMIM:615873
23394	ADNP	HP:0002835	Aspiration	HP:0040283	ORPHA:404448
23394	ADNP	HP:0001511	Intrauterine growth retardation	1/10	OMIM:615873
23394	ADNP	HP:0001513	Obesity	1/10	OMIM:615873
23394	ADNP	HP:0000378	Cupped ear	1/10	OMIM:615873
23394	ADNP	HP:0005216	Impaired mastication	HP:0040283	ORPHA:404448
23394	ADNP	HP:0000358	Posteriorly rotated ears	11/78	OMIM:615873
23394	ADNP	HP:0000369	Low-set ears	HP:0040283	ORPHA:404448
23394	ADNP	HP:0000369	Low-set ears	11/78	OMIM:615873
23394	ADNP	HP:0000343	Long philtrum	22/56	OMIM:615873
23394	ADNP	HP:0000337	Broad forehead	-	OMIM:187500
23394	ADNP	HP:0032792	Tonic seizure	1/10	OMIM:615873
23394	ADNP	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:404448
23394	ADNP	HP:0000319	Smooth philtrum	-	OMIM:615873
23394	ADNP	HP:0000316	Hypertelorism	1/10	OMIM:615873
23394	ADNP	HP:0030148	Heart murmur	1/10	OMIM:615873
23394	ADNP	HP:0000331	Short chin	1/10	OMIM:615873
23394	ADNP	HP:0001653	Mitral regurgitation	2/10	OMIM:615873
23394	ADNP	HP:0001627	Abnormal heart morphology	HP:0040283	OMIM:615873
23394	ADNP	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
23394	ADNP	HP:0001631	Atrial septal defect	2/10	OMIM:615873
23394	ADNP	HP:0001634	Mitral valve prolapse	2/10	OMIM:615873
23394	ADNP	HP:0006610	Wide intermamillary distance	HP:0040283	ORPHA:404448
23394	ADNP	HP:0011147	Typical absence seizure	1/10	OMIM:615873
23394	ADNP	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:404448
23394	ADNP	HP:0000483	Astigmatism	HP:0040283	ORPHA:404448
23394	ADNP	HP:0000483	Astigmatism	1/10	OMIM:615873
23394	ADNP	HP:0000486	Strabismus	HP:0040283	ORPHA:404448
23394	ADNP	HP:0000486	Strabismus	1/10	OMIM:615873
23394	ADNP	HP:0000494	Downslanted palpebral fissures	23/70	OMIM:615873
23394	ADNP	HP:0000463	Anteverted nares	28/60	OMIM:615873
23394	ADNP	HP:0012450	Chronic constipation	HP:0040282	ORPHA:404448
23394	ADNP	HP:0000455	Broad nasal tip	15/57	OMIM:615873
23394	ADNP	HP:0001788	Premature rupture of membranes	1/10	OMIM:615873
23394	ADNP	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:404448
23394	ADNP	HP:0001763	Pes planus	3/10	OMIM:615873
23394	ADNP	HP:0001780	Abnormal toe morphology	HP:0040283	ORPHA:404448
23394	ADNP	HP:0012420	Meconium stained amniotic fluid	1/10	OMIM:615873
23394	ADNP	HP:0000411	Protruding ear	HP:0040283	ORPHA:404448
23394	ADNP	HP:0000431	Wide nasal bridge	34/76	OMIM:615873
23394	ADNP	HP:0001852	Sandal gap	HP:0040283	ORPHA:404448
23394	ADNP	HP:0001852	Sandal gap	1/10	OMIM:615873
23394	ADNP	HP:0000520	Proptosis	-	OMIM:187500
23394	ADNP	HP:0000508	Ptosis	1/10	OMIM:615873
23394	ADNP	HP:0000505	Visual impairment	-	OMIM:615873
23394	ADNP	HP:0000582	Upslanted palpebral fissure	2/10	OMIM:615873
23394	ADNP	HP:0000577	Exotropia	HP:0040284	ORPHA:404448
23394	ADNP	HP:0011220	Prominent forehead	45/74	OMIM:615873
23394	ADNP	HP:0000540	Hypermetropia	HP:0040283	ORPHA:404448
23394	ADNP	HP:0000540	Hypermetropia	2/10	OMIM:615873
23395	LARS2	HP:0001270	Motor delay	2/17	OMIM:615300
23395	LARS2	HP:0001250	Seizure	1/1	OMIM:617021
23395	LARS2	HP:0008724	Hypoplasia of the ovary	2/11	OMIM:615300
23395	LARS2	HP:0000013	Hypoplasia of the uterus	5/11	OMIM:615300
23395	LARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617021
23395	LARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615300
23395	LARS2	HP:0002623	Overriding aorta	1/1	OMIM:617021
23395	LARS2	HP:0000175	Cleft palate	1/17	OMIM:615300
23395	LARS2	HP:0012132	Erythroid hyperplasia	1/1	OMIM:617021
23395	LARS2	HP:0001410	Decreased liver function	1/1	OMIM:617021
23395	LARS2	HP:0100543	Cognitive impairment	2/17	OMIM:615300
23395	LARS2	HP:0002092	Pulmonary arterial hypertension	1/1	OMIM:617021
23395	LARS2	HP:0002093	Respiratory insufficiency	-	OMIM:617021
23395	LARS2	HP:0002066	Gait ataxia	1/17	OMIM:615300
23395	LARS2	HP:0011706	Second degree atrioventricular block	1/1	OMIM:617021
23395	LARS2	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:617021
23395	LARS2	HP:0008209	Premature ovarian insufficiency	-	OMIM:615300
23395	LARS2	HP:0008214	Decreased serum estradiol	3/11	OMIM:615300
23395	LARS2	HP:0003577	Congenital onset	-	OMIM:617021
23395	LARS2	HP:0002353	EEG abnormality	-	OMIM:617021
23395	LARS2	HP:0005518	Increased mean corpuscular volume	1/1	OMIM:617021
23395	LARS2	HP:0001978	Extramedullary hematopoiesis	1/1	OMIM:617021
23395	LARS2	HP:0001942	Metabolic acidosis	1/1	OMIM:617021
23395	LARS2	HP:0001924	Sideroblastic anemia	-	OMIM:617021
23395	LARS2	HP:0001903	Anemia	1/1	OMIM:617021
23395	LARS2	HP:0030674	Antenatal onset	1/1	OMIM:617021
23395	LARS2	HP:0003073	Hypoalbuminemia	1/1	OMIM:617021
23395	LARS2	HP:0000790	Hematuria	1/1	OMIM:617021
23395	LARS2	HP:0000786	Primary amenorrhea	6/10	OMIM:615300
23395	LARS2	HP:0003128	Lactic acidosis	1/1	OMIM:617021
23395	LARS2	HP:0000876	Oligomenorrhea	2/10	OMIM:615300
23395	LARS2	HP:0000869	Secondary amenorrhea	2/10	OMIM:615300
23395	LARS2	HP:0000837	Increased circulating gonadotropin level	10/11	OMIM:615300
23395	LARS2	HP:0000813	Bicornuate uterus	1/11	OMIM:615300
23395	LARS2	HP:0000822	Hypertension	-	OMIM:617021
23395	LARS2	HP:0000939	Osteoporosis	1/17	OMIM:615300
23395	LARS2	HP:0001562	Oligohydramnios	1/1	OMIM:617021
23395	LARS2	HP:0001541	Ascites	1/1	OMIM:617021
23395	LARS2	HP:0001519	Disproportionate tall stature	3/17	OMIM:615300
23395	LARS2	HP:0001518	Small for gestational age	1/1	OMIM:617021
23395	LARS2	HP:0001511	Intrauterine growth retardation	1/1	OMIM:617021
23395	LARS2	HP:0001513	Obesity	1/17	OMIM:615300
23395	LARS2	HP:0025671	Fetal pericardial effusion	1/1	OMIM:617021
23395	LARS2	HP:0025643	Tarlov cyst	1/17	OMIM:615300
23395	LARS2	HP:0001643	Patent ductus arteriosus	1/1	OMIM:617021
23395	LARS2	HP:0001629	Ventricular septal defect	1/1	OMIM:617021
23395	LARS2	HP:0002967	Cubitus valgus	1/17	OMIM:615300
23395	LARS2	HP:0000408	Progressive sensorineural hearing impairment	17/17	OMIM:615300
23395	LARS2	HP:0000486	Strabismus	1/17	OMIM:615300
23395	LARS2	HP:0001790	Nonimmune hydrops fetalis	1/1	OMIM:617021
23395	LARS2	HP:0001873	Thrombocytopenia	-	OMIM:617021
23396	PIP5K1C	HP:0003811	Neonatal death	-	OMIM:611369
23396	PIP5K1C	HP:0000007	Autosomal recessive inheritance	-	OMIM:611369
23396	PIP5K1C	HP:0002093	Respiratory insufficiency	-	OMIM:611369
23396	PIP5K1C	HP:0003202	Skeletal muscle atrophy	-	OMIM:611369
23396	PIP5K1C	HP:0002828	Multiple joint contractures	-	OMIM:611369
23396	PIP5K1C	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:611369
23397	NCAPH	HP:0000007	Autosomal recessive inheritance	-	OMIM:617985
23397	NCAPH	HP:0003577	Congenital onset	1/1	OMIM:617985
23397	NCAPH	HP:0002342	Intellectual disability, moderate	1/1	OMIM:617985
23397	NCAPH	HP:0000252	Microcephaly	1/1	OMIM:617985
23397	NCAPH	HP:0001518	Small for gestational age	1/1	OMIM:617985
23397	NCAPH	HP:0000340	Sloping forehead	1/1	OMIM:617985
23400	ATP13A2	HP:0002478	Progressive spastic quadriplegia	HP:0040282	ORPHA:513436
23400	ATP13A2	HP:0001167	Abnormal finger morphology	HP:0040282	ORPHA:306674
23400	ATP13A2	HP:0002495	Impaired vibratory sensation	3/5	OMIM:617225
23400	ATP13A2	HP:0002493	Upper motor neuron dysfunction	HP:0040283	ORPHA:306674
23400	ATP13A2	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:513436
23400	ATP13A2	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:306674
23400	ATP13A2	HP:0007256	Abnormal pyramidal sign	-	OMIM:617225
23400	ATP13A2	HP:0007240	Progressive gait ataxia	HP:0040281	ORPHA:513436
23400	ATP13A2	HP:0002425	Anarthria	HP:0040282	ORPHA:306674
23400	ATP13A2	HP:0002425	Anarthria	-	OMIM:606693
23400	ATP13A2	HP:0001276	Hypertonia	HP:0040283	ORPHA:306674
23400	ATP13A2	HP:0001276	Hypertonia	4/4	OMIM:606693
23400	ATP13A2	HP:0001272	Cerebellar atrophy	4/5	OMIM:617225
23400	ATP13A2	HP:0001272	Cerebellar atrophy	HP:0040281	ORPHA:513436
23400	ATP13A2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:306674
23400	ATP13A2	HP:0001268	Mental deterioration	1/1	OMIM:617225
23400	ATP13A2	HP:0001289	Confusion	HP:0040282	ORPHA:306674
23400	ATP13A2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:314632
23400	ATP13A2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:513436
23400	ATP13A2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:306674
23400	ATP13A2	HP:0001288	Gait disturbance	1/2	OMIM:606693
23400	ATP13A2	HP:0001254	Lethargy	HP:0040282	ORPHA:306674
23400	ATP13A2	HP:0001256	Intellectual disability, mild	2/2	OMIM:606693
23400	ATP13A2	HP:0001250	Seizure	HP:0040283	OMIM:606693
23400	ATP13A2	HP:0001251	Ataxia	6/6	OMIM:617225
23400	ATP13A2	HP:0001251	Ataxia	-	OMIM:606693
23400	ATP13A2	HP:0001260	Dysarthria	HP:0040283	ORPHA:314632
23400	ATP13A2	HP:0001260	Dysarthria	5/5	OMIM:617225
23400	ATP13A2	HP:0001260	Dysarthria	HP:0040281	ORPHA:513436
23400	ATP13A2	HP:0001260	Dysarthria	HP:0040283	ORPHA:306674
23400	ATP13A2	HP:0001260	Dysarthria	1/2	OMIM:606693
23400	ATP13A2	HP:0001258	Spastic paraplegia	-	OMIM:606693
23400	ATP13A2	HP:0001258	Spastic paraplegia	-	OMIM:617225
23400	ATP13A2	HP:0001257	Spasticity	-	OMIM:606693
23400	ATP13A2	HP:0007350	Upper limb hyperreflexia	HP:0040281	ORPHA:306674
23400	ATP13A2	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	-	OMIM:606693
23400	ATP13A2	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	HP:0040282	ORPHA:314632
23400	ATP13A2	HP:0002518	Abnormal periventricular white matter morphology	2/5	OMIM:617225
23400	ATP13A2	HP:0002518	Abnormal periventricular white matter morphology	HP:0040282	ORPHA:513436
23400	ATP13A2	HP:0002527	Falls	1/1	OMIM:617225
23400	ATP13A2	HP:0002510	Spastic tetraplegia	2/6	OMIM:617225
23400	ATP13A2	HP:0002506	Diffuse cerebral atrophy	HP:0040282	ORPHA:314632
23400	ATP13A2	HP:0031008	Lingual dystonia	HP:0040283	ORPHA:306674
23400	ATP13A2	HP:0025331	Upgaze palsy	HP:0040282	ORPHA:314632
23400	ATP13A2	HP:0000020	Urinary incontinence	HP:0040282	ORPHA:306674
23400	ATP13A2	HP:0001348	Brisk reflexes	2/2	OMIM:606693
23400	ATP13A2	HP:0001347	Hyperreflexia	5/5	OMIM:617225
23400	ATP13A2	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:513436
23400	ATP13A2	HP:0001347	Hyperreflexia	-	OMIM:606693
23400	ATP13A2	HP:0001332	Dystonia	HP:0040282	ORPHA:314632
23400	ATP13A2	HP:0001332	Dystonia	HP:0040282	ORPHA:513436
23400	ATP13A2	HP:0001332	Dystonia	1/2	OMIM:606693
23400	ATP13A2	HP:0001324	Muscle weakness	HP:0040283	ORPHA:314632
23400	ATP13A2	HP:0000011	Neurogenic bladder	HP:0040282	ORPHA:513436
23400	ATP13A2	HP:0000012	Urinary urgency	2/5	OMIM:617225
23400	ATP13A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:606693
23400	ATP13A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617225
23400	ATP13A2	HP:0001337	Tremor	HP:0040282	ORPHA:314632
23400	ATP13A2	HP:0001337	Tremor	4/4	OMIM:606693
23400	ATP13A2	HP:0001336	Myoclonus	HP:0040282	ORPHA:314632
23400	ATP13A2	HP:0001336	Myoclonus	HP:0040282	ORPHA:306674
23400	ATP13A2	HP:0001336	Myoclonus	3/4	OMIM:606693
23400	ATP13A2	HP:0001300	Parkinsonism	-	OMIM:606693
23400	ATP13A2	HP:0001300	Parkinsonism	HP:0040281	ORPHA:306674
23400	ATP13A2	HP:0001300	Parkinsonism	1/5	OMIM:617225
23400	ATP13A2	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:306674
23400	ATP13A2	HP:0000183	Tongue muscle weakness	HP:0040282	ORPHA:306674
23400	ATP13A2	HP:0008969	Leg muscle stiffness	HP:0040282	ORPHA:306674
23400	ATP13A2	HP:0008969	Leg muscle stiffness	1/2	OMIM:606693
23400	ATP13A2	HP:0025403	Stooped posture	HP:0040283	ORPHA:306674
23400	ATP13A2	HP:0002015	Dysphagia	HP:0040283	ORPHA:306674
23400	ATP13A2	HP:0002015	Dysphagia	1/2	OMIM:606693
23400	ATP13A2	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:306674
23400	ATP13A2	HP:0030902	Palmomental reflex	3/4	OMIM:606693
23400	ATP13A2	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:314632
23400	ATP13A2	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:513436
23400	ATP13A2	HP:0002067	Bradykinesia	HP:0040282	ORPHA:314632
23400	ATP13A2	HP:0002067	Bradykinesia	4/4	OMIM:606693
23400	ATP13A2	HP:0002067	Bradykinesia	HP:0040283	ORPHA:306674
23400	ATP13A2	HP:0002067	Bradykinesia	1/5	OMIM:617225
23400	ATP13A2	HP:0002066	Gait ataxia	3/5	OMIM:617225
23400	ATP13A2	HP:0002063	Rigidity	HP:0040281	ORPHA:314632
23400	ATP13A2	HP:0002063	Rigidity	4/4	OMIM:606693
23400	ATP13A2	HP:0002063	Rigidity	HP:0040281	ORPHA:306674
23400	ATP13A2	HP:0003390	Sensory axonal neuropathy	HP:0040282	ORPHA:513436
23400	ATP13A2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:513436
23400	ATP13A2	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:513436
23400	ATP13A2	HP:0003477	Peripheral axonal neuropathy	HP:0040281	ORPHA:513436
23400	ATP13A2	HP:0003477	Peripheral axonal neuropathy	4/5	OMIM:617225
23400	ATP13A2	HP:0003487	Babinski sign	HP:0040282	ORPHA:314632
23400	ATP13A2	HP:0003487	Babinski sign	4/5	OMIM:617225
23400	ATP13A2	HP:0003487	Babinski sign	HP:0040281	ORPHA:513436
23400	ATP13A2	HP:0003487	Babinski sign	HP:0040281	ORPHA:306674
23400	ATP13A2	HP:0003487	Babinski sign	5/6	OMIM:606693
23400	ATP13A2	HP:0003482	EMG: axonal abnormality	HP:0040281	ORPHA:513436
23400	ATP13A2	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:513436
23400	ATP13A2	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:306674
23400	ATP13A2	HP:0002120	Cerebral cortical atrophy	3/5	OMIM:617225
23400	ATP13A2	HP:0002174	Postural tremor	HP:0040284	ORPHA:314632
23400	ATP13A2	HP:0002172	Postural instability	HP:0040282	ORPHA:314632
23400	ATP13A2	HP:0002172	Postural instability	-	OMIM:606693
23400	ATP13A2	HP:0010553	Oculogyric crisis	HP:0040282	ORPHA:306674
23400	ATP13A2	HP:0003581	Adult onset	5/5	OMIM:617225
23400	ATP13A2	HP:0007020	Progressive spastic paraplegia	HP:0040281	ORPHA:513436
23400	ATP13A2	HP:0007083	Hyperactive patellar reflex	HP:0040283	ORPHA:306674
23400	ATP13A2	HP:0020049	Exodeviation	2/6	OMIM:617225
23400	ATP13A2	HP:0002385	Paraparesis	-	OMIM:606693
23400	ATP13A2	HP:0002395	Lower limb hyperreflexia	HP:0040281	ORPHA:306674
23400	ATP13A2	HP:0002367	Visual hallucination	HP:0040282	ORPHA:306674
23400	ATP13A2	HP:0002375	Hypokinesia	1/2	OMIM:606693
23400	ATP13A2	HP:0002339	Abnormal caudate nucleus morphology	HP:0040283	ORPHA:314632
23400	ATP13A2	HP:0003678	Rapidly progressive	-	OMIM:606693
23400	ATP13A2	HP:0002322	Resting tremor	1/5	OMIM:617225
23400	ATP13A2	HP:0010830	Impaired tactile sensation	3/5	OMIM:617225
23400	ATP13A2	HP:0100660	Dyskinesia	HP:0040282	ORPHA:306674
23400	ATP13A2	HP:0007153	Progressive extrapyramidal movement disorder	HP:0040284	ORPHA:513436
23400	ATP13A2	HP:0002304	Akinesia	-	OMIM:606693
23400	ATP13A2	HP:0003621	Juvenile onset	1/3	OMIM:606693
23400	ATP13A2	HP:0000639	Nystagmus	1/1	OMIM:617225
23400	ATP13A2	HP:0000639	Nystagmus	HP:0040283	ORPHA:306674
23400	ATP13A2	HP:0000643	Blepharospasm	HP:0040283	ORPHA:306674
23400	ATP13A2	HP:0001945	Fever	HP:0040283	ORPHA:306674
23400	ATP13A2	HP:0000605	Supranuclear gaze palsy	5/6	OMIM:606693
23400	ATP13A2	HP:0000605	Supranuclear gaze palsy	HP:0040282	ORPHA:513436
23400	ATP13A2	HP:0000605	Supranuclear gaze palsy	HP:0040281	ORPHA:306674
23400	ATP13A2	HP:0000605	Supranuclear gaze palsy	2/5	OMIM:617225
23400	ATP13A2	HP:0000658	Eyelid apraxia	HP:0040283	ORPHA:306674
23400	ATP13A2	HP:0000666	Horizontal nystagmus	HP:0040282	ORPHA:513436
23400	ATP13A2	HP:0000738	Hallucinations	1/5	OMIM:617225
23400	ATP13A2	HP:0000738	Hallucinations	2/4	OMIM:606693
23400	ATP13A2	HP:0000738	Hallucinations	HP:0040284	ORPHA:513436
23400	ATP13A2	HP:0000736	Short attention span	HP:0040282	ORPHA:306674
23400	ATP13A2	HP:0000741	Apathy	HP:0040283	ORPHA:306674
23400	ATP13A2	HP:0000716	Depression	HP:0040284	ORPHA:314632
23400	ATP13A2	HP:0000718	Aggressive behavior	1/5	OMIM:617225
23400	ATP13A2	HP:0000718	Aggressive behavior	-	OMIM:606693
23400	ATP13A2	HP:0000726	Dementia	HP:0040284	ORPHA:513436
23400	ATP13A2	HP:0000726	Dementia	HP:0040281	ORPHA:306674
23400	ATP13A2	HP:0000726	Dementia	2/5	OMIM:617225
23400	ATP13A2	HP:0000726	Dementia	3/3	OMIM:606693
23400	ATP13A2	HP:0000725	Psychotic episodes	-	OMIM:606693
23400	ATP13A2	HP:0011462	Young adult onset	2/3	OMIM:606693
23400	ATP13A2	HP:0011446	Abnormality of mental function	HP:0040282	ORPHA:306674
23400	ATP13A2	HP:0004409	Hyposmia	-	OMIM:606693
23400	ATP13A2	HP:0003202	Skeletal muscle atrophy	-	ORPHA:513436
23400	ATP13A2	HP:0000298	Mask-like facies	1/2	OMIM:606693
23400	ATP13A2	HP:0012378	Fatigue	HP:0040283	ORPHA:314632
23400	ATP13A2	HP:0012378	Fatigue	HP:0040282	ORPHA:306674
23400	ATP13A2	HP:0012378	Fatigue	-	OMIM:606693
23400	ATP13A2	HP:0002936	Distal sensory impairment	HP:0040283	OMIM:606693
23400	ATP13A2	HP:0002936	Distal sensory impairment	-	OMIM:617225
23400	ATP13A2	HP:0000338	Hypomimic face	HP:0040282	ORPHA:306674
23400	ATP13A2	HP:0000317	Facial myokymia	HP:0040284	ORPHA:513436
23400	ATP13A2	HP:0000486	Strabismus	HP:0040281	ORPHA:513436
23400	ATP13A2	HP:0000458	Anosmia	-	OMIM:606693
23400	ATP13A2	HP:0000473	Torticollis	-	OMIM:606693
23400	ATP13A2	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:306674
23400	ATP13A2	HP:0001761	Pes cavus	2/6	OMIM:617225
23400	ATP13A2	HP:0001761	Pes cavus	HP:0040282	ORPHA:513436
23400	ATP13A2	HP:0000514	Slow saccadic eye movements	3/5	OMIM:606693
23400	ATP13A2	HP:0000514	Slow saccadic eye movements	HP:0040281	ORPHA:306674
23400	ATP13A2	HP:0000511	Vertical supranuclear gaze palsy	HP:0040283	ORPHA:306674
23404	EXOSC2	HP:0001156	Brachydactyly	3/3	OMIM:617763
23404	EXOSC2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
23404	EXOSC2	HP:0001131	Corneal dystrophy	1/3	OMIM:617763
23404	EXOSC2	HP:0001272	Cerebellar atrophy	2/3	OMIM:617763
23404	EXOSC2	HP:0001270	Motor delay	-	OMIM:617763
23404	EXOSC2	HP:0001256	Intellectual disability, mild	1/3	OMIM:617763
23404	EXOSC2	HP:0001263	Global developmental delay	1/3	OMIM:617763
23404	EXOSC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617763
23404	EXOSC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
23404	EXOSC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
23404	EXOSC2	HP:0001321	Cerebellar hypoplasia	1/3	OMIM:617763
23404	EXOSC2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
23404	EXOSC2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
23404	EXOSC2	HP:0002120	Cerebral cortical atrophy	2/3	OMIM:617763
23404	EXOSC2	HP:0002135	Basal ganglia calcification	1/3	OMIM:617763
23404	EXOSC2	HP:0002188	Delayed CNS myelination	1/3	OMIM:617763
23404	EXOSC2	HP:0003593	Infantile onset	3/3	OMIM:617763
23404	EXOSC2	HP:0002232	Patchy alopecia	1/3	OMIM:617763
23404	EXOSC2	HP:0009836	Broad distal phalanx of finger	2/3	OMIM:617763
23404	EXOSC2	HP:0010761	Broad columella	3/3	OMIM:617763
23404	EXOSC2	HP:0003621	Juvenile onset	8/19	OMIM:180100
23404	EXOSC2	HP:0000639	Nystagmus	1/3	OMIM:617763
23404	EXOSC2	HP:0000662	Nyctalopia	26/28	OMIM:180100
23404	EXOSC2	HP:0000662	Nyctalopia	1/3	OMIM:617763
23404	EXOSC2	HP:0011304	Broad thumb	3/3	OMIM:617763
23404	EXOSC2	HP:0004322	Short stature	3/3	OMIM:617763
23404	EXOSC2	HP:0012745	Short palpebral fissure	2/3	OMIM:617763
23404	EXOSC2	HP:0000750	Delayed speech and language development	-	OMIM:617763
23404	EXOSC2	HP:0011463	Childhood onset	3/19	OMIM:180100
23404	EXOSC2	HP:0011462	Young adult onset	8/19	OMIM:180100
23404	EXOSC2	HP:0012810	Wide nasal base	3/3	OMIM:617763
23404	EXOSC2	HP:0000822	Hypertension	2/3	OMIM:617763
23404	EXOSC2	HP:0000821	Hypothyroidism	2/3	OMIM:617763
23404	EXOSC2	HP:0008070	Sparse hair	2/3	OMIM:617763
23404	EXOSC2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
23404	EXOSC2	HP:0000219	Thin upper lip vermilion	3/3	OMIM:617763
23404	EXOSC2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
23404	EXOSC2	HP:0000365	Hearing impairment	2/3	OMIM:617763
23404	EXOSC2	HP:0000358	Posteriorly rotated ears	1/3	OMIM:617763
23404	EXOSC2	HP:0011003	High myopia	1/3	OMIM:617763
23404	EXOSC2	HP:0000369	Low-set ears	3/3	OMIM:617763
23404	EXOSC2	HP:0000343	Long philtrum	3/3	OMIM:617763
23404	EXOSC2	HP:0005328	Progeroid facial appearance	1/3	OMIM:617763
23404	EXOSC2	HP:0000486	Strabismus	1/3	OMIM:617763
23404	EXOSC2	HP:0000490	Deeply set eye	3/3	OMIM:617763
23404	EXOSC2	HP:0000463	Anteverted nares	1/3	OMIM:617763
23404	EXOSC2	HP:0011120	Concave nasal ridge	1/3	OMIM:617763
23404	EXOSC2	HP:0000455	Broad nasal tip	3/3	OMIM:617763
23404	EXOSC2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
23404	EXOSC2	HP:0000510	Rod-cone dystrophy	2/3	OMIM:617763
23404	EXOSC2	HP:0000501	Glaucoma	1/3	OMIM:617763
23404	EXOSC2	HP:0000582	Upslanted palpebral fissure	1/3	OMIM:617763
23404	EXOSC2	HP:0000575	Scotoma	5/18	OMIM:180100
23404	EXOSC2	HP:0011220	Prominent forehead	3/3	OMIM:617763
23404	EXOSC2	HP:0012510	Extra-axial cerebrospinal fluid accumulation	1/3	OMIM:617763
23404	EXOSC2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
23404	EXOSC2	HP:0000545	Myopia	-	OMIM:180100
23404	EXOSC2	HP:0000545	Myopia	3/3	OMIM:617763
23405	DICER1	HP:0001263	Global developmental delay	1/2	OMIM:618272
23405	DICER1	HP:0025388	Thyroid nodule	-	OMIM:180295
23405	DICER1	HP:0000023	Inguinal hernia	1/2	OMIM:618272
23405	DICER1	HP:0002671	Basal cell carcinoma	HP:0040282	ORPHA:276399
23405	DICER1	HP:0002667	Nephroblastoma	-	OMIM:180295
23405	DICER1	HP:0002667	Nephroblastoma	2/2	OMIM:618272
23405	DICER1	HP:0000006	Autosomal dominant inheritance	20/20	OMIM:601200
23405	DICER1	HP:0000006	Autosomal dominant inheritance	-	OMIM:138800
23405	DICER1	HP:0032445	Pulmonary cyst	2/2	OMIM:618272
23405	DICER1	HP:0001442	Typified by somatic mosaicism	2/2	OMIM:618272
23405	DICER1	HP:0000105	Enlarged kidney	1/2	OMIM:618272
23405	DICER1	HP:0030983	Ovarian thecoma	-	OMIM:180295
23405	DICER1	HP:0005987	Multinodular goiter	-	OMIM:180295
23405	DICER1	HP:0005987	Multinodular goiter	HP:0040280	ORPHA:276399
23405	DICER1	HP:0002007	Frontal bossing	2/2	OMIM:618272
23405	DICER1	HP:0100528	Pleuropulmonary blastoma	11/14	OMIM:601200
23405	DICER1	HP:0100528	Pleuropulmonary blastoma	-	OMIM:180295
23405	DICER1	HP:0100528	Pleuropulmonary blastoma	HP:0040282	ORPHA:276399
23405	DICER1	HP:0003577	Congenital onset	2/2	OMIM:618272
23405	DICER1	HP:0200063	Colorectal polyposis	HP:0040282	ORPHA:276399
23405	DICER1	HP:0100615	Ovarian neoplasm	HP:0040282	ORPHA:276399
23405	DICER1	HP:0100619	Sertoli cell neoplasm	HP:0040282	ORPHA:276399
23405	DICER1	HP:0100617	Testicular seminoma	HP:0040282	ORPHA:276399
23405	DICER1	HP:0007129	Cerebellar medulloblastoma	HP:0040284	ORPHA:276399
23405	DICER1	HP:0005584	Renal cell carcinoma	HP:0040282	ORPHA:276399
23405	DICER1	HP:0000767	Pectus excavatum	1/2	OMIM:618272
23405	DICER1	HP:0000717	Autism	1/2	OMIM:618272
23405	DICER1	HP:0004467	Preauricular pit	1/2	OMIM:618272
23405	DICER1	HP:0000853	Goiter	-	OMIM:180295
23405	DICER1	HP:0000866	Euthyroid multinodular goiter	-	OMIM:138800
23405	DICER1	HP:0000836	Hyperthyroidism	-	ORPHA:276399
23405	DICER1	HP:0000960	Sacral dimple	1/2	OMIM:618272
23405	DICER1	HP:0000260	Wide anterior fontanel	1/2	OMIM:618272
23405	DICER1	HP:0000256	Macrocephaly	2/2	OMIM:618272
23405	DICER1	HP:0030071	Medulloepithelioma	HP:0040284	ORPHA:276399
23405	DICER1	HP:0002808	Kyphosis	1/2	OMIM:618272
23405	DICER1	HP:0001548	Overgrowth	2/2	OMIM:618272
23405	DICER1	HP:0002895	Papillary thyroid carcinoma	-	OMIM:138800
23405	DICER1	HP:0002890	Thyroid carcinoma	HP:0040284	ORPHA:276399
23405	DICER1	HP:0002885	Medulloblastoma	1/86	OMIM:601200
23405	DICER1	HP:0002859	Rhabdomyosarcoma	-	OMIM:601200
23405	DICER1	HP:0001537	Umbilical hernia	1/2	OMIM:618272
23405	DICER1	HP:0001538	Protuberant abdomen	1/2	OMIM:618272
23405	DICER1	HP:0001520	Large for gestational age	1/2	OMIM:618272
23405	DICER1	HP:0000347	Micrognathia	1/2	OMIM:618272
23405	DICER1	HP:0000316	Hypertelorism	2/2	OMIM:618272
23405	DICER1	HP:0005280	Depressed nasal bridge	2/2	OMIM:618272
23405	DICER1	HP:0000463	Anteverted nares	1/2	OMIM:618272
23405	DICER1	HP:0006743	Embryonal rhabdomyosarcoma	-	OMIM:180295
23405	DICER1	HP:0030434	Pilomatrixoma	HP:0040284	ORPHA:276399
23405	DICER1	HP:0006779	Alveolar rhabdomyosarcoma	HP:0040284	ORPHA:276399
23414	ZFPM2	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3303
23414	ZFPM2	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:3303
23414	ZFPM2	HP:0002566	Intestinal malrotation	HP:0040282	ORPHA:2140
23414	ZFPM2	HP:0008726	Hypoplasia of the vagina	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0008730	Female external genitalia in individual with 46,XY karyotype	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0008665	Clitoral hypertrophy	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0000062	Ambiguous genitalia	1/2	OMIM:616067
23414	ZFPM2	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0000063	Fused labia minora	1/2	OMIM:616067
23414	ZFPM2	HP:0000058	Abnormal labia morphology	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0000045	Abnormal scrotum morphology	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0000054	Micropenis	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0000047	Hypospadias	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0000030	Testicular gonadoblastoma	HP:0040283	ORPHA:251510
23414	ZFPM2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:251510
23414	ZFPM2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3303
23414	ZFPM2	HP:0000027	Azoospermia	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:251510
23414	ZFPM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
23414	ZFPM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616067
23414	ZFPM2	HP:0000142	Abnormal vagina morphology	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0000150	Gonadoblastoma	HP:0040282	ORPHA:251510
23414	ZFPM2	HP:0000149	Ovarian gonadoblastoma	HP:0040283	ORPHA:251510
23414	ZFPM2	HP:0000133	Gonadal dysgenesis	2/2	OMIM:616067
23414	ZFPM2	HP:0000133	Gonadal dysgenesis	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0000100	Nephrotic syndrome	HP:0040284	ORPHA:251510
23414	ZFPM2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:251510
23414	ZFPM2	HP:0002089	Pulmonary hypoplasia	HP:0040282	ORPHA:2140
23414	ZFPM2	HP:0002098	Respiratory distress	HP:0040282	ORPHA:2140
23414	ZFPM2	HP:0008193	Primary gonadal insufficiency	HP:0040283	ORPHA:251510
23414	ZFPM2	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:251510
23414	ZFPM2	HP:0010464	Streak ovary	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0008232	Elevated circulating follicle stimulating hormone level	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0003577	Congenital onset	2/2	OMIM:616067
23414	ZFPM2	HP:0002215	Sparse axillary hair	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0002225	Sparse pubic hair	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0100779	Urogenital sinus anomaly	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
23414	ZFPM2	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:3303
23414	ZFPM2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:2140
23414	ZFPM2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040284	ORPHA:251510
23414	ZFPM2	HP:0000771	Gynecomastia	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0000729	Autistic behavior	HP:0040283	OMIM:616067
23414	ZFPM2	HP:0000776	Congenital diaphragmatic hernia	-	OMIM:610187
23414	ZFPM2	HP:0000776	Congenital diaphragmatic hernia	HP:0040281	ORPHA:2140
23414	ZFPM2	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0004467	Preauricular pit	HP:0040282	ORPHA:3303
23414	ZFPM2	HP:0004467	Preauricular pit	-	OMIM:187500
23414	ZFPM2	HP:0012870	Vanishing testis	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0000884	Prominent sternum	HP:0040282	ORPHA:2140
23414	ZFPM2	HP:0000868	Decreased fertility in females	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0000846	Adrenal insufficiency	HP:0040283	ORPHA:251510
23414	ZFPM2	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0000812	Abnormal internal genitalia	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0000823	Delayed puberty	HP:0040282	ORPHA:251510
23414	ZFPM2	HP:0003251	Male infertility	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0010315	Aplasia/Hypoplasia of the diaphragm	HP:0040282	ORPHA:2140
23414	ZFPM2	HP:0000939	Osteoporosis	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0012244	Abnormal sex determination	HP:0040281	ORPHA:251510
23414	ZFPM2	HP:0012245	Sex reversal	2/2	OMIM:616067
23414	ZFPM2	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:3303
23414	ZFPM2	HP:0005105	Abnormal nasal morphology	HP:0040281	ORPHA:3303
23414	ZFPM2	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:3303
23414	ZFPM2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3303
23414	ZFPM2	HP:0000337	Broad forehead	-	OMIM:187500
23414	ZFPM2	HP:0000337	Broad forehead	HP:0040281	ORPHA:3303
23414	ZFPM2	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:3303
23414	ZFPM2	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
23414	ZFPM2	HP:0012418	Hypoxemia	HP:0040282	ORPHA:2140
23414	ZFPM2	HP:0000520	Proptosis	-	OMIM:187500
23414	ZFPM2	HP:0000520	Proptosis	HP:0040282	ORPHA:3303
23417	MLYCD	HP:0001290	Generalized hypotonia	-	OMIM:248360
23417	MLYCD	HP:0001254	Lethargy	HP:0040283	ORPHA:943
23417	MLYCD	HP:0001250	Seizure	3/9	OMIM:248360
23417	MLYCD	HP:0001250	Seizure	HP:0040282	ORPHA:943
23417	MLYCD	HP:0001252	Hypotonia	6/9	OMIM:248360
23417	MLYCD	HP:0001252	Hypotonia	HP:0040283	ORPHA:943
23417	MLYCD	HP:0001249	Intellectual disability	5/6	OMIM:248360
23417	MLYCD	HP:0001263	Global developmental delay	-	OMIM:248360
23417	MLYCD	HP:0001263	Global developmental delay	HP:0040282	ORPHA:943
23417	MLYCD	HP:0001332	Dystonia	HP:0040281	ORPHA:943
23417	MLYCD	HP:0000007	Autosomal recessive inheritance	-	OMIM:248360
23417	MLYCD	HP:0001302	Pachygyria	HP:0040283	OMIM:248360
23417	MLYCD	HP:0002643	Neonatal respiratory distress	3/9	OMIM:248360
23417	MLYCD	HP:0012120	Methylmalonic aciduria	-	OMIM:248360
23417	MLYCD	HP:0012120	Methylmalonic aciduria	HP:0040281	ORPHA:943
23417	MLYCD	HP:0002019	Constipation	-	OMIM:248360
23417	MLYCD	HP:0002027	Abdominal pain	-	OMIM:248360
23417	MLYCD	HP:0002014	Diarrhea	-	OMIM:248360
23417	MLYCD	HP:0002014	Diarrhea	HP:0040283	ORPHA:943
23417	MLYCD	HP:0002013	Vomiting	-	OMIM:248360
23417	MLYCD	HP:0002013	Vomiting	HP:0040283	ORPHA:943
23417	MLYCD	HP:0002188	Delayed CNS myelination	2/9	OMIM:248360
23417	MLYCD	HP:0033213	Elevated urine suberic acid level	-	OMIM:248360
23417	MLYCD	HP:6000355	Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts	1/1	OMIM:248360
23417	MLYCD	HP:6000355	Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts	HP:0040282	ORPHA:943
23417	MLYCD	HP:0034657	Elevated urine malonic acid level	HP:0040281	ORPHA:943
23417	MLYCD	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:943
23417	MLYCD	HP:0001943	Hypoglycemia	-	OMIM:248360
23417	MLYCD	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:943
23417	MLYCD	HP:0001946	Ketosis	-	OMIM:248360
23417	MLYCD	HP:0001946	Ketosis	HP:0040283	ORPHA:943
23417	MLYCD	HP:0001942	Metabolic acidosis	-	OMIM:248360
23417	MLYCD	HP:0001942	Metabolic acidosis	HP:0040282	ORPHA:943
23417	MLYCD	HP:0004322	Short stature	-	OMIM:248360
23417	MLYCD	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:943
23417	MLYCD	HP:0003128	Lactic acidosis	-	OMIM:248360
23417	MLYCD	HP:0011664	Left ventricular noncompaction cardiomyopathy	1/9	OMIM:248360
23417	MLYCD	HP:0000252	Microcephaly	HP:0040282	ORPHA:943
23417	MLYCD	HP:0001508	Failure to thrive	HP:0040282	ORPHA:943
23417	MLYCD	HP:0001510	Growth delay	HP:0040282	ORPHA:943
23417	MLYCD	HP:0001644	Dilated cardiomyopathy	5/9	OMIM:248360
23417	MLYCD	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:943
23417	MLYCD	HP:0012450	Chronic constipation	-	OMIM:248360
23418	CRB1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
23418	CRB1	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
23418	CRB1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
23418	CRB1	HP:0001116	Macular coloboma	3/19	OMIM:613835
23418	CRB1	HP:0001270	Motor delay	HP:0040283	ORPHA:65
23418	CRB1	HP:0001250	Seizure	HP:0040282	ORPHA:65
23418	CRB1	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
23418	CRB1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
23418	CRB1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
23418	CRB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:600105
23418	CRB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
23418	CRB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613835
23418	CRB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
23418	CRB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:172870
23418	CRB1	HP:0001483	Eye poking	HP:0040282	ORPHA:65
23418	CRB1	HP:0001483	Eye poking	3/3	OMIM:613835
23418	CRB1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
23418	CRB1	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
23418	CRB1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
23418	CRB1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
23418	CRB1	HP:0007663	Reduced visual acuity	7/7	OMIM:600105
23418	CRB1	HP:0007663	Reduced visual acuity	22/22	OMIM:613835
23418	CRB1	HP:0001417	X-linked inheritance	-	OMIM:172870
23418	CRB1	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
23418	CRB1	HP:0003593	Infantile onset	21/22	OMIM:613835
23418	CRB1	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
23418	CRB1	HP:0008499	High hypermetropia	HP:0040281	ORPHA:35612
23418	CRB1	HP:0008499	High hypermetropia	15/22	OMIM:613835
23418	CRB1	HP:0008499	High hypermetropia	4/7	OMIM:600105
23418	CRB1	HP:0003621	Juvenile onset	8/19	OMIM:180100
23418	CRB1	HP:0030505	Nummular pigmentation of the fundus	10/17	OMIM:613835
23418	CRB1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
23418	CRB1	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
23418	CRB1	HP:0000639	Nystagmus	7/7	OMIM:600105
23418	CRB1	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
23418	CRB1	HP:0000639	Nystagmus	18/19	OMIM:613835
23418	CRB1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
23418	CRB1	HP:0000618	Blindness	HP:0040281	ORPHA:791
23418	CRB1	HP:0000613	Photophobia	HP:0040282	ORPHA:65
23418	CRB1	HP:0000613	Photophobia	HP:0040281	ORPHA:791
23418	CRB1	HP:0000610	Abnormal choroid morphology	HP:0040281	ORPHA:35612
23418	CRB1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
23418	CRB1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
23418	CRB1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
23418	CRB1	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
23418	CRB1	HP:0030491	Choriocapillaris atrophy	-	OMIM:613835
23418	CRB1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
23418	CRB1	HP:0000662	Nyctalopia	-	OMIM:600105
23418	CRB1	HP:0000662	Nyctalopia	26/28	OMIM:180100
23418	CRB1	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
23418	CRB1	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
23418	CRB1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
23418	CRB1	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
23418	CRB1	HP:0011463	Childhood onset	3/19	OMIM:180100
23418	CRB1	HP:0011463	Childhood onset	-	OMIM:600105
23418	CRB1	HP:0011463	Childhood onset	1/3	OMIM:613835
23418	CRB1	HP:0011462	Young adult onset	8/19	OMIM:180100
23418	CRB1	HP:0030786	Photopsia	HP:0040283	ORPHA:791
23418	CRB1	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
23418	CRB1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
23418	CRB1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
23418	CRB1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
23418	CRB1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
23418	CRB1	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:35612
23418	CRB1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
23418	CRB1	HP:0007773	Vitreoretinopathy	-	OMIM:172870
23418	CRB1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
23418	CRB1	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:172870
23418	CRB1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
23418	CRB1	HP:0007737	Bone spicule pigmentation of the retina	5/6	OMIM:600105
23418	CRB1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
23418	CRB1	HP:0007843	Attenuation of retinal blood vessels	4/4	OMIM:600105
23418	CRB1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
23418	CRB1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
23418	CRB1	HP:0007903	Paravenous chorioretinal atrophy	-	OMIM:172870
23418	CRB1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
23418	CRB1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
23418	CRB1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
23418	CRB1	HP:0000486	Strabismus	HP:0040281	ORPHA:35612
23418	CRB1	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
23418	CRB1	HP:0000490	Deeply set eye	-	OMIM:613835
23418	CRB1	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
23418	CRB1	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
23418	CRB1	HP:0000518	Cataract	-	OMIM:613835
23418	CRB1	HP:0000518	Cataract	HP:0040282	ORPHA:65
23418	CRB1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
23418	CRB1	HP:0000510	Rod-cone dystrophy	7/7	OMIM:600105
23418	CRB1	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
23418	CRB1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
23418	CRB1	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
23418	CRB1	HP:0000501	Glaucoma	HP:0040281	ORPHA:35612
23418	CRB1	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
23418	CRB1	HP:0000580	Pigmentary retinopathy	1/3	OMIM:613835
23418	CRB1	HP:0000575	Scotoma	5/18	OMIM:180100
23418	CRB1	HP:0000577	Exotropia	2/7	OMIM:600105
23418	CRB1	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
23418	CRB1	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
23418	CRB1	HP:0000563	Keratoconus	2/19	OMIM:613835
23418	CRB1	HP:0000568	Microphthalmia	HP:0040281	ORPHA:35612
23418	CRB1	HP:0000565	Esotropia	-	OMIM:172870
23418	CRB1	HP:0000540	Hypermetropia	-	OMIM:172870
23418	CRB1	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
23418	CRB1	HP:0000533	Chorioretinal atrophy	1/3	OMIM:613835
23418	CRB1	HP:0000550	Undetectable electroretinogram	7/12	OMIM:613835
23418	CRB1	HP:0000550	Undetectable electroretinogram	3/3	OMIM:600105
23418	CRB1	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
23418	CRB1	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
23418	CRB1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
23418	CRB1	HP:0000543	Optic disc pallor	5/6	OMIM:600105
23418	CRB1	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
23418	CRB1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
23418	CRB1	HP:0000545	Myopia	-	OMIM:180100
23424	TDRD7	HP:0000007	Autosomal recessive inheritance	-	OMIM:613887
23424	TDRD7	HP:0000518	Cataract	-	OMIM:613887
23426	GRIP1	HP:0001126	Cryptophthalmos	2/3	OMIM:617667
23426	GRIP1	HP:0001126	Cryptophthalmos	HP:0040281	ORPHA:2052
23426	GRIP1	HP:0002475	Myelomeningocele	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0010958	Bilateral renal agenesis	2/3	OMIM:617667
23426	GRIP1	HP:0020206	Simple ear	1/3	OMIM:617667
23426	GRIP1	HP:0008551	Microtia	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:2052
23426	GRIP1	HP:0008749	Laryngeal hypoplasia	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0008736	Hypoplasia of penis	1/3	OMIM:617667
23426	GRIP1	HP:0008678	Renal hypoplasia/aplasia	HP:0040281	ORPHA:2052
23426	GRIP1	HP:0003826	Stillbirth	2/3	OMIM:617667
23426	GRIP1	HP:0000068	Urethral atresia	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0000079	Abnormality of the urinary system	HP:0040281	ORPHA:2052
23426	GRIP1	HP:0000046	Small scrotum	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0000046	Small scrotum	1/1	OMIM:617667
23426	GRIP1	HP:0000047	Hypospadias	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0001362	Calvarial skull defect	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617667
23426	GRIP1	HP:0000142	Abnormal vagina morphology	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0000148	Vaginal atresia	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0002777	Tracheal stenosis	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0002025	Anal stenosis	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0002023	Anal atresia	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0002084	Encephalocele	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0010458	Female pseudohermaphroditism	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0002101	Abnormal lung lobation	1/3	OMIM:617667
23426	GRIP1	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0010720	Abnormal hair pattern	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0009826	Limb undergrowth	HP:0040284	ORPHA:2052
23426	GRIP1	HP:0100682	Tracheal atresia	1/3	OMIM:617667
23426	GRIP1	HP:0000618	Blindness	HP:0040281	ORPHA:2052
23426	GRIP1	HP:0000678	Dental crowding	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0004397	Ectopic anus	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0034198	Second trimester onset	3/3	OMIM:617667
23426	GRIP1	HP:0000772	Abnormal rib morphology	HP:0040284	ORPHA:2052
23426	GRIP1	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0012725	Cutaneous syndactyly	HP:0040281	ORPHA:2052
23426	GRIP1	HP:0012725	Cutaneous syndactyly	1/1	OMIM:617667
23426	GRIP1	HP:0003191	Cleft ala nasi	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0003183	Wide pubic symphysis	HP:0040284	ORPHA:2052
23426	GRIP1	HP:0034217	Sonographic non-visualized fetal bladder	1/3	OMIM:617667
23426	GRIP1	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0010297	Bifid tongue	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0005105	Abnormal nasal morphology	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0000238	Hydrocephalus	1/3	OMIM:617667
23426	GRIP1	HP:0000252	Microcephaly	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0000218	High palate	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0001562	Oligohydramnios	1/3	OMIM:617667
23426	GRIP1	HP:0001522	Death in infancy	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0001541	Ascites	1/3	OMIM:617667
23426	GRIP1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0001539	Omphalocele	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0001607	Subglottic stenosis	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0001602	Laryngeal stenosis	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0000356	Abnormality of the outer ear	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0000370	Abnormality of the middle ear	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0000369	Low-set ears	1/1	OMIM:617667
23426	GRIP1	HP:0000347	Micrognathia	1/1	OMIM:617667
23426	GRIP1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0012300	Ureteral agenesis	1/3	OMIM:617667
23426	GRIP1	HP:0006610	Wide intermamillary distance	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0007925	Lacrimal duct aplasia	HP:0040281	ORPHA:2052
23426	GRIP1	HP:0005343	Hypoplasia of the bladder	2/3	OMIM:617667
23426	GRIP1	HP:0007993	Malformed lacrimal duct	HP:0040281	ORPHA:2052
23426	GRIP1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0001790	Nonimmune hydrops fetalis	1/3	OMIM:617667
23426	GRIP1	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0000444	Convex nasal ridge	1/1	OMIM:617667
23426	GRIP1	HP:0000445	Wide nose	1/1	OMIM:617667
23426	GRIP1	HP:0000413	Atresia of the external auditory canal	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0000430	Underdeveloped nasal alae	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0004112	Midline nasal groove	HP:0040283	ORPHA:2052
23426	GRIP1	HP:0000528	Anophthalmia	HP:0040282	ORPHA:2052
23426	GRIP1	HP:0001831	Short toe	1/1	OMIM:617667
23426	GRIP1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:2052
23431	AP4E1	HP:0002465	Poor speech	HP:0040282	ORPHA:280763
23431	AP4E1	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:280763
23431	AP4E1	HP:0100962	Excessive shyness	HP:0040283	ORPHA:280763
23431	AP4E1	HP:0100962	Excessive shyness	5/8	OMIM:613744
23431	AP4E1	HP:0010864	Intellectual disability, severe	10/10	OMIM:613744
23431	AP4E1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:280763
23431	AP4E1	HP:0025268	Stuttering	-	OMIM:184450
23431	AP4E1	HP:0001272	Cerebellar atrophy	1/2	OMIM:613744
23431	AP4E1	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:280763
23431	AP4E1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:280763
23431	AP4E1	HP:0001250	Seizure	3/10	OMIM:613744
23431	AP4E1	HP:0001250	Seizure	HP:0040283	ORPHA:280763
23431	AP4E1	HP:0001252	Hypotonia	2/2	OMIM:613744
23431	AP4E1	HP:0001252	Hypotonia	HP:0040281	ORPHA:280763
23431	AP4E1	HP:0001263	Global developmental delay	-	OMIM:613744
23431	AP4E1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:280763
23431	AP4E1	HP:0001258	Spastic paraplegia	-	OMIM:613744
23431	AP4E1	HP:0001257	Spasticity	7/8	OMIM:613744
23431	AP4E1	HP:0001257	Spasticity	HP:0040282	ORPHA:280763
23431	AP4E1	HP:0002540	Inability to walk	2/2	OMIM:613744
23431	AP4E1	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:280763
23431	AP4E1	HP:0002515	Waddling gait	HP:0040282	ORPHA:280763
23431	AP4E1	HP:0002510	Spastic tetraplegia	2/2	OMIM:613744
23431	AP4E1	HP:0008807	Acetabular dysplasia	HP:0040284	ORPHA:280763
23431	AP4E1	HP:0001371	Flexion contracture	-	OMIM:613744
23431	AP4E1	HP:0001347	Hyperreflexia	7/7	OMIM:613744
23431	AP4E1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:280763
23431	AP4E1	HP:0001332	Dystonia	HP:0040282	ORPHA:280763
23431	AP4E1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613744
23431	AP4E1	HP:0000006	Autosomal dominant inheritance	-	OMIM:184450
23431	AP4E1	HP:0001319	Neonatal hypotonia	7/7	OMIM:613744
23431	AP4E1	HP:0000154	Wide mouth	-	OMIM:613744
23431	AP4E1	HP:0000154	Wide mouth	HP:0040283	ORPHA:280763
23431	AP4E1	HP:0002761	Generalized joint hypermobility	HP:0040284	ORPHA:280763
23431	AP4E1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:280763
23431	AP4E1	HP:0003487	Babinski sign	4/5	OMIM:613744
23431	AP4E1	HP:0003487	Babinski sign	HP:0040282	ORPHA:280763
23431	AP4E1	HP:0002120	Cerebral cortical atrophy	-	OMIM:613744
23431	AP4E1	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:280763
23431	AP4E1	HP:0002119	Ventriculomegaly	2/2	OMIM:613744
23431	AP4E1	HP:0003577	Congenital onset	-	OMIM:613744
23431	AP4E1	HP:0007020	Progressive spastic paraplegia	HP:0040281	ORPHA:280763
23431	AP4E1	HP:0010803	Everted upper lip vermilion	HP:0040283	ORPHA:280763
23431	AP4E1	HP:0003623	Neonatal onset	5/8	OMIM:613744
23431	AP4E1	HP:0002307	Drooling	6/10	OMIM:613744
23431	AP4E1	HP:0002307	Drooling	HP:0040282	ORPHA:280763
23431	AP4E1	HP:0000639	Nystagmus	-	OMIM:613744
23431	AP4E1	HP:0000646	Amblyopia	1/8	OMIM:613744
23431	AP4E1	HP:0000646	Amblyopia	HP:0040284	ORPHA:280763
23431	AP4E1	HP:0004322	Short stature	-	OMIM:613744
23431	AP4E1	HP:0004322	Short stature	HP:0040282	ORPHA:280763
23431	AP4E1	HP:0031936	Delayed ability to walk	6/8	OMIM:613744
23431	AP4E1	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:280763
23431	AP4E1	HP:0011463	Childhood onset	3/8	OMIM:613744
23431	AP4E1	HP:0011463	Childhood onset	-	OMIM:184450
23431	AP4E1	HP:0003199	Decreased muscle mass	-	OMIM:613744
23431	AP4E1	HP:0003189	Long nose	-	OMIM:613744
23431	AP4E1	HP:0000280	Coarse facial features	-	OMIM:613744
23431	AP4E1	HP:0000280	Coarse facial features	HP:0040282	ORPHA:280763
23431	AP4E1	HP:0000297	Facial hypotonia	-	OMIM:613744
23431	AP4E1	HP:0000297	Facial hypotonia	HP:0040282	ORPHA:280763
23431	AP4E1	HP:0000275	Narrow face	-	OMIM:613744
23431	AP4E1	HP:0002816	Genu recurvatum	HP:0040284	ORPHA:280763
23431	AP4E1	HP:0000252	Microcephaly	7/10	OMIM:613744
23431	AP4E1	HP:0000252	Microcephaly	HP:0040281	ORPHA:280763
23431	AP4E1	HP:0000218	High palate	HP:0040283	ORPHA:280763
23431	AP4E1	HP:0025502	Overweight	HP:0040283	ORPHA:280763
23431	AP4E1	HP:0025502	Overweight	2/8	OMIM:613744
23431	AP4E1	HP:0000395	Prominent antihelix	-	OMIM:613744
23431	AP4E1	HP:0000341	Narrow forehead	-	OMIM:613744
23431	AP4E1	HP:0000341	Narrow forehead	HP:0040283	ORPHA:280763
23431	AP4E1	HP:0000322	Short philtrum	-	OMIM:613744
23431	AP4E1	HP:0000322	Short philtrum	HP:0040283	ORPHA:280763
23431	AP4E1	HP:0000307	Pointed chin	-	OMIM:613744
23431	AP4E1	HP:0000486	Strabismus	HP:0040284	ORPHA:280763
23431	AP4E1	HP:0000494	Downslanted palpebral fissures	-	OMIM:613744
23431	AP4E1	HP:0001763	Pes planus	HP:0040283	ORPHA:280763
23431	AP4E1	HP:0000414	Bulbous nose	-	OMIM:613744
23431	AP4E1	HP:0000414	Bulbous nose	HP:0040282	ORPHA:280763
23431	AP4E1	HP:0001762	Talipes equinovarus	-	OMIM:613744
23431	AP4E1	HP:0000431	Wide nasal bridge	-	OMIM:613744
23432	GPR161	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
23432	GPR161	HP:0001293	Cranial nerve compression	-	OMIM:131300
23432	GPR161	HP:0001250	Seizure	HP:0040283	ORPHA:95496
23432	GPR161	HP:0001252	Hypotonia	2/7	OMIM:615777
23432	GPR161	HP:0001249	Intellectual disability	HP:0040283	ORPHA:95496
23432	GPR161	HP:0001249	Intellectual disability	5/7	OMIM:615777
23432	GPR161	HP:0001263	Global developmental delay	HP:0040283	ORPHA:95496
23432	GPR161	HP:0001263	Global developmental delay	-	OMIM:615777
23432	GPR161	HP:0100842	Septo-optic dysplasia	HP:0040283	ORPHA:95496
23432	GPR161	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:95496
23432	GPR161	HP:0002515	Waddling gait	54/102	OMIM:131300
23432	GPR161	HP:0003829	Typified by incomplete penetrance	-	OMIM:155255
23432	GPR161	HP:0001382	Joint hypermobility	-	OMIM:615777
23432	GPR161	HP:0002694	Sclerosis of skull base	-	OMIM:131300
23432	GPR161	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:95496
23432	GPR161	HP:0008897	Postnatal growth retardation	-	OMIM:615777
23432	GPR161	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
23432	GPR161	HP:0001324	Muscle weakness	40/96	OMIM:131300
23432	GPR161	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
23432	GPR161	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
23432	GPR161	HP:0000007	Autosomal recessive inheritance	-	OMIM:155255
23432	GPR161	HP:0000006	Autosomal dominant inheritance	-	OMIM:155255
23432	GPR161	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
23432	GPR161	HP:0002650	Scoliosis	12/14	OMIM:131300
23432	GPR161	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
23432	GPR161	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
23432	GPR161	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
23432	GPR161	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
23432	GPR161	HP:0000175	Cleft palate	2/7	OMIM:615777
23432	GPR161	HP:0001442	Typified by somatic mosaicism	-	OMIM:155255
23432	GPR161	HP:0003388	Easy fatigability	36/76	OMIM:131300
23432	GPR161	HP:0011755	Ectopic posterior pituitary	HP:0040280	ORPHA:95496
23432	GPR161	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
23432	GPR161	HP:0003510	Severe short stature	7/7	OMIM:615777
23432	GPR161	HP:0002315	Headache	-	OMIM:131300
23432	GPR161	HP:0004976	Knee dislocation	6/7	OMIM:615777
23432	GPR161	HP:0009803	Short phalanx of finger	-	OMIM:615777
23432	GPR161	HP:0009763	Limb pain	63/92	OMIM:131300
23432	GPR161	HP:0003621	Juvenile onset	-	OMIM:131300
23432	GPR161	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
23432	GPR161	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
23432	GPR161	HP:6001056	Out-toeing	-	OMIM:131300
23432	GPR161	HP:0000651	Diplopia	-	OMIM:131300
23432	GPR161	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:95496
23432	GPR161	HP:0001956	Truncal obesity	2/7	OMIM:615777
23432	GPR161	HP:0001903	Anemia	HP:0040283	OMIM:131300
23432	GPR161	HP:0010049	Short metacarpal	-	OMIM:615777
23432	GPR161	HP:0000678	Dental crowding	-	OMIM:615777
23432	GPR161	HP:0000670	Carious teeth	-	OMIM:131300
23432	GPR161	HP:0011304	Broad thumb	2/7	OMIM:615777
23432	GPR161	HP:0000668	Hypodontia	-	OMIM:615777
23432	GPR161	HP:0000664	Synophrys	-	OMIM:615777
23432	GPR161	HP:0004322	Short stature	HP:0040281	ORPHA:95496
23432	GPR161	HP:0004396	Poor appetite	-	OMIM:131300
23432	GPR161	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
23432	GPR161	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
23432	GPR161	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
23432	GPR161	HP:0003026	Short long bone	7/7	OMIM:615777
23432	GPR161	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
23432	GPR161	HP:0000767	Pectus excavatum	2/7	OMIM:615777
23432	GPR161	HP:0000768	Pectus carinatum	1/7	OMIM:615777
23432	GPR161	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
23432	GPR161	HP:0000750	Delayed speech and language development	-	OMIM:615777
23432	GPR161	HP:0011461	Fetal onset	7/7	OMIM:615777
23432	GPR161	HP:0000774	Narrow chest	2/7	OMIM:615777
23432	GPR161	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:95496
23432	GPR161	HP:0000926	Platyspondyly	1/7	OMIM:615777
23432	GPR161	HP:0003180	Flat acetabular roof	-	OMIM:615777
23432	GPR161	HP:0004482	Relative macrocephaly	-	OMIM:615777
23432	GPR161	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
23432	GPR161	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:95496
23432	GPR161	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040281	ORPHA:95496
23432	GPR161	HP:0000835	Adrenal hypoplasia	HP:0040283	ORPHA:95496
23432	GPR161	HP:0000821	Hypothyroidism	HP:0040282	ORPHA:95496
23432	GPR161	HP:0000823	Delayed puberty	-	OMIM:131300
23432	GPR161	HP:0000823	Delayed puberty	HP:0040282	ORPHA:95496
23432	GPR161	HP:0000894	Short clavicles	-	OMIM:615777
23432	GPR161	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
23432	GPR161	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
23432	GPR161	HP:0000286	Epicanthus	1/7	OMIM:615777
23432	GPR161	HP:0000280	Coarse facial features	2/7	OMIM:615777
23432	GPR161	HP:0002827	Hip dislocation	3/7	OMIM:615777
23432	GPR161	HP:0000252	Microcephaly	-	OMIM:615777
23432	GPR161	HP:0002885	Medulloblastoma	-	OMIM:155255
23432	GPR161	HP:0002857	Genu valgum	-	OMIM:131300
23432	GPR161	HP:0001522	Death in infancy	HP:0040283	ORPHA:95496
23432	GPR161	HP:0001533	Slender build	-	OMIM:131300
23432	GPR161	HP:0001508	Failure to thrive	HP:0040281	ORPHA:95496
23432	GPR161	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
23432	GPR161	HP:0007807	Optic nerve compression	-	OMIM:131300
23432	GPR161	HP:0012368	Flat face	7/7	OMIM:615777
23432	GPR161	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
23432	GPR161	HP:0000365	Hearing impairment	10/67	OMIM:131300
23432	GPR161	HP:0000343	Long philtrum	1/7	OMIM:615777
23432	GPR161	HP:0011001	Increased bone mineral density	-	OMIM:131300
23432	GPR161	HP:0000311	Round face	2/7	OMIM:615777
23432	GPR161	HP:0002970	Genu varum	-	OMIM:615777
23432	GPR161	HP:0000303	Mandibular prognathia	-	OMIM:131300
23432	GPR161	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
23432	GPR161	HP:0000470	Short neck	1/7	OMIM:615777
23432	GPR161	HP:0001769	Broad foot	HP:0040283	OMIM:615777
23432	GPR161	HP:0001763	Pes planus	1/7	OMIM:615777
23432	GPR161	HP:0001840	Metatarsus adductus	-	OMIM:615777
23432	GPR161	HP:0000520	Proptosis	2/4	OMIM:131300
23432	GPR161	HP:0000520	Proptosis	7/7	OMIM:615777
23432	GPR161	HP:0000592	Blue sclerae	2/7	OMIM:615777
23432	GPR161	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
23432	GPR161	HP:0012514	Lower limb pain	4/4	OMIM:131300
23435	TARDBP	HP:0002463	Language impairment	HP:0040283	ORPHA:803
23435	TARDBP	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0002442	Dyscalculia	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:275872
23435	TARDBP	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0001283	Bulbar palsy	HP:0040283	ORPHA:275872
23435	TARDBP	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:275872
23435	TARDBP	HP:0001260	Dysarthria	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
23435	TARDBP	HP:0001260	Dysarthria	-	OMIM:612069
23435	TARDBP	HP:0001257	Spasticity	HP:0040282	ORPHA:803
23435	TARDBP	HP:0001257	Spasticity	-	OMIM:612069
23435	TARDBP	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
23435	TARDBP	HP:0007354	Amyotrophic lateral sclerosis	3/3	OMIM:612069
23435	TARDBP	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
23435	TARDBP	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
23435	TARDBP	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
23435	TARDBP	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
23435	TARDBP	HP:0001324	Muscle weakness	-	OMIM:612069
23435	TARDBP	HP:0000006	Autosomal dominant inheritance	-	OMIM:612069
23435	TARDBP	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
23435	TARDBP	HP:0001300	Parkinsonism	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
23435	TARDBP	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
23435	TARDBP	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:612069
23435	TARDBP	HP:0002015	Dysphagia	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
23435	TARDBP	HP:0002015	Dysphagia	-	OMIM:612069
23435	TARDBP	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
23435	TARDBP	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
23435	TARDBP	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
23435	TARDBP	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
23435	TARDBP	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
23435	TARDBP	HP:0002145	Frontotemporal dementia	-	OMIM:612069
23435	TARDBP	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:275872
23435	TARDBP	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
23435	TARDBP	HP:0003470	Paralysis	HP:0040282	ORPHA:803
23435	TARDBP	HP:0003487	Babinski sign	HP:0040283	ORPHA:275872
23435	TARDBP	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
23435	TARDBP	HP:0003487	Babinski sign	-	OMIM:612069
23435	TARDBP	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
23435	TARDBP	HP:0002127	Abnormal upper motor neuron morphology	HP:0040281	ORPHA:275872
23435	TARDBP	HP:0002186	Apraxia	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
23435	TARDBP	HP:0002171	Gliosis	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0010549	Weakness due to upper motor neuron dysfunction	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0002273	Tetraparesis	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0003584	Late onset	3/3	OMIM:612069
23435	TARDBP	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:275872
23435	TARDBP	HP:0008322	Abnormal mitochondrial morphology	HP:0040283	ORPHA:275872
23435	TARDBP	HP:0002385	Paraparesis	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0002380	Fasciculations	HP:0040283	ORPHA:275872
23435	TARDBP	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
23435	TARDBP	HP:0002366	Abnormal lower motor neuron morphology	HP:0040281	ORPHA:275872
23435	TARDBP	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
23435	TARDBP	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
23435	TARDBP	HP:0003678	Rapidly progressive	-	OMIM:612069
23435	TARDBP	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
23435	TARDBP	HP:0002314	Degeneration of the lateral corticospinal tracts	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0002300	Mutism	HP:0040283	ORPHA:275872
23435	TARDBP	HP:0002307	Drooling	HP:0040282	ORPHA:803
23435	TARDBP	HP:0007190	Neuronal loss in the cerebral cortex	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0000605	Supranuclear gaze palsy	HP:0040283	ORPHA:275872
23435	TARDBP	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
23435	TARDBP	HP:0004326	Cachexia	HP:0040283	ORPHA:803
23435	TARDBP	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
23435	TARDBP	HP:0000738	Hallucinations	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0000739	Anxiety	HP:0040282	ORPHA:803
23435	TARDBP	HP:0000734	Disinhibition	-	OMIM:612069
23435	TARDBP	HP:0000734	Disinhibition	HP:0040283	ORPHA:275872
23435	TARDBP	HP:0000733	Motor stereotypy	-	OMIM:612069
23435	TARDBP	HP:0000741	Apathy	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0000741	Apathy	-	OMIM:612069
23435	TARDBP	HP:0000716	Depression	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0000716	Depression	HP:0040282	ORPHA:803
23435	TARDBP	HP:0000712	Emotional lability	-	OMIM:612069
23435	TARDBP	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
23435	TARDBP	HP:0000708	Atypical behavior	HP:0040282	ORPHA:275872
23435	TARDBP	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
23435	TARDBP	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
23435	TARDBP	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
23435	TARDBP	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
23435	TARDBP	HP:0003202	Skeletal muscle atrophy	-	OMIM:612069
23435	TARDBP	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
23435	TARDBP	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
23435	TARDBP	HP:0012378	Fatigue	HP:0040282	ORPHA:803
23435	TARDBP	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
23435	TARDBP	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
23435	TARDBP	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
23435	TARDBP	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
23435	TARDBP	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
23435	TARDBP	HP:0030223	Perseverative thought	-	OMIM:612069
23435	TARDBP	HP:0030223	Perseverative thought	HP:0040283	ORPHA:275872
23435	TARDBP	HP:0001824	Weight loss	HP:0040282	ORPHA:803
23435	TARDBP	HP:0000508	Ptosis	HP:0040284	ORPHA:275872
23435	TARDBP	HP:0012531	Pain	HP:0040282	ORPHA:803
23438	HARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614926
23438	HARS2	HP:0000141	Amenorrhea	3/3	OMIM:614926
23438	HARS2	HP:0010464	Streak ovary	3/3	OMIM:614926
23438	HARS2	HP:0000407	Sensorineural hearing impairment	5/5	OMIM:614926
23443	SLC35A3	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:370943
23443	SLC35A3	HP:0001290	Generalized hypotonia	-	OMIM:615553
23443	SLC35A3	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:370943
23443	SLC35A3	HP:0001249	Intellectual disability	5/8	OMIM:615553
23443	SLC35A3	HP:0001263	Global developmental delay	-	OMIM:615553
23443	SLC35A3	HP:0008807	Acetabular dysplasia	8/8	OMIM:615553
23443	SLC35A3	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:370943
23443	SLC35A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615553
23443	SLC35A3	HP:0002650	Scoliosis	HP:0040283	ORPHA:370943
23443	SLC35A3	HP:0002650	Scoliosis	1/8	OMIM:615553
23443	SLC35A3	HP:0002121	Generalized non-motor (absence) seizure	2/8	OMIM:615553
23443	SLC35A3	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:370943
23443	SLC35A3	HP:0100490	Camptodactyly of finger	8/8	OMIM:615553
23443	SLC35A3	HP:0003577	Congenital onset	8/8	OMIM:615553
23443	SLC35A3	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:370943
23443	SLC35A3	HP:0004976	Knee dislocation	8/8	OMIM:615553
23443	SLC35A3	HP:0004976	Knee dislocation	HP:0040282	ORPHA:370943
23443	SLC35A3	HP:0000729	Autistic behavior	HP:0040280	ORPHA:370943
23443	SLC35A3	HP:0000729	Autistic behavior	8/8	OMIM:615553
23443	SLC35A3	HP:0011461	Fetal onset	8/8	OMIM:615553
23443	SLC35A3	HP:0002827	Hip dislocation	8/8	OMIM:615553
23443	SLC35A3	HP:0002827	Hip dislocation	HP:0040283	ORPHA:370943
23443	SLC35A3	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:615553
23443	SLC35A3	HP:0000252	Microcephaly	-	OMIM:615553
23443	SLC35A3	HP:0000308	Microretrognathia	-	OMIM:615553
23443	SLC35A3	HP:0011153	Focal motor seizure	4/8	OMIM:615553
23443	SLC35A3	HP:0001765	Hammertoe	HP:0040283	ORPHA:370943
23446	SLC44A1	HP:0001272	Cerebellar atrophy	3/5	OMIM:618868
23446	SLC44A1	HP:0001268	Mental deterioration	4/5	OMIM:618868
23446	SLC44A1	HP:0001260	Dysarthria	4/5	OMIM:618868
23446	SLC44A1	HP:0000020	Urinary incontinence	4/4	OMIM:618868
23446	SLC44A1	HP:0001332	Dystonia	2/5	OMIM:618868
23446	SLC44A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618868
23446	SLC44A1	HP:0002607	Bowel incontinence	2/3	OMIM:618868
23446	SLC44A1	HP:0002015	Dysphagia	4/5	OMIM:618868
23446	SLC44A1	HP:0002073	Progressive cerebellar ataxia	4/5	OMIM:618868
23446	SLC44A1	HP:0003487	Babinski sign	3/5	OMIM:618868
23446	SLC44A1	HP:0002169	Clonus	2/5	OMIM:618868
23446	SLC44A1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/5	OMIM:618868
23446	SLC44A1	HP:0002353	EEG abnormality	1/4	OMIM:618868
23446	SLC44A1	HP:0000648	Optic atrophy	4/4	OMIM:618868
23446	SLC44A1	HP:0000750	Delayed speech and language development	2/5	OMIM:618868
23446	SLC44A1	HP:0033048	Substantia nigra hypointensity on susceptibility-weighted imaging	2/5	OMIM:618868
23446	SLC44A1	HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	2/5	OMIM:618868
23446	SLC44A1	HP:0006579	Prolonged neonatal jaundice	2/5	OMIM:618868
23446	SLC44A1	HP:0000486	Strabismus	3/5	OMIM:618868
23446	SLC44A1	HP:0000514	Slow saccadic eye movements	4/5	OMIM:618868
23451	SF3B1	HP:0010920	Zonular cataract	HP:0040283	ORPHA:39044
23451	SF3B1	HP:0001231	Abnormal fingernail morphology	HP:0040283	ORPHA:75564
23451	SF3B1	HP:0031035	Chronic infection	HP:0040283	ORPHA:75564
23451	SF3B1	HP:0010972	Anemia of inadequate production	HP:0040281	ORPHA:75564
23451	SF3B1	HP:0012055	Ciliary body melanoma	HP:0040282	ORPHA:39044
23451	SF3B1	HP:0012054	Choroidal melanoma	HP:0040281	ORPHA:39044
23451	SF3B1	HP:0012136	Dysplastic granulopoesis	HP:0040283	ORPHA:75564
23451	SF3B1	HP:0012137	Abnormal number of granulocyte precursors	HP:0040283	ORPHA:75564
23451	SF3B1	HP:0012143	Abnormal megakaryocyte morphology	HP:0040283	ORPHA:75564
23451	SF3B1	HP:0012132	Erythroid hyperplasia	HP:0040282	ORPHA:75564
23451	SF3B1	HP:0001442	Typified by somatic mosaicism	-	OMIM:614286
23451	SF3B1	HP:0100533	Inflammatory abnormality of the eye	HP:0040284	ORPHA:39044
23451	SF3B1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:75564
23451	SF3B1	HP:0200143	Megaloblastic erythroid hyperplasia	HP:0040282	ORPHA:75564
23451	SF3B1	HP:0004828	Refractory anemia with ringed sideroblasts	HP:0040281	ORPHA:75564
23451	SF3B1	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:75564
23451	SF3B1	HP:0200026	Ocular pain	HP:0040284	ORPHA:39044
23451	SF3B1	HP:0001098	Abnormal fundus morphology	HP:0040281	ORPHA:39044
23451	SF3B1	HP:0008494	Inferior lens subluxation	HP:0040283	ORPHA:39044
23451	SF3B1	HP:0005528	Bone marrow hypocellularity	HP:0040284	ORPHA:75564
23451	SF3B1	HP:0005513	Increased megakaryocyte count	HP:0040284	ORPHA:75564
23451	SF3B1	HP:0001974	Increased total leukocyte count	HP:0040284	ORPHA:75564
23451	SF3B1	HP:0001931	Hypochromic anemia	HP:0040283	ORPHA:75564
23451	SF3B1	HP:0001913	Decreased total granulocyte count	HP:0040284	ORPHA:75564
23451	SF3B1	HP:0011499	Mydriasis	HP:0040283	ORPHA:39044
23451	SF3B1	HP:0011447	Hyposegmentation of neutrophil nuclei	HP:0040283	ORPHA:75564
23451	SF3B1	HP:0030786	Photopsia	HP:0040283	ORPHA:39044
23451	SF3B1	HP:0011524	Iris melanoma	HP:0040282	ORPHA:39044
23451	SF3B1	HP:0030800	Abnormal visual accommodation	HP:0040283	ORPHA:39044
23451	SF3B1	HP:0000980	Pallor	HP:0040282	ORPHA:75564
23451	SF3B1	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:75564
23451	SF3B1	HP:0002863	Myelodysplasia	-	OMIM:614286
23451	SF3B1	HP:0001635	Congestive heart failure	HP:0040284	ORPHA:75564
23451	SF3B1	HP:0007902	Vitreous hemorrhage	HP:0040283	ORPHA:39044
23451	SF3B1	HP:0007906	Ocular hypertension	HP:0040283	ORPHA:39044
23451	SF3B1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:75564
23451	SF3B1	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:39044
23451	SF3B1	HP:0001892	Abnormal bleeding	HP:0040284	ORPHA:75564
23451	SF3B1	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:75564
23451	SF3B1	HP:0000572	Visual loss	HP:0040281	ORPHA:39044
23451	SF3B1	HP:0001895	Normochromic anemia	HP:0040282	ORPHA:75564
23451	SF3B1	HP:0001897	Normocytic anemia	HP:0040282	ORPHA:75564
23451	SF3B1	HP:0000541	Retinal detachment	HP:0040282	ORPHA:39044
23451	SF3B1	HP:0000539	Abnormality of refraction	HP:0040283	ORPHA:39044
23451	SF3B1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:75564
23451	SF3B1	HP:0001876	Pancytopenia	HP:0040284	ORPHA:75564
23451	SF3B1	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:75564
23461	ABCA5	HP:0009928	Thick nasal alae	HP:0040283	OMIM:135400
23461	ABCA5	HP:0001250	Seizure	HP:0040283	ORPHA:2026
23461	ABCA5	HP:0001251	Ataxia	HP:0040283	ORPHA:2026
23461	ABCA5	HP:0000007	Autosomal recessive inheritance	-	OMIM:135400
23461	ABCA5	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:2026
23461	ABCA5	HP:0000169	Gingival fibromatosis	-	OMIM:135400
23461	ABCA5	HP:0000169	Gingival fibromatosis	HP:0040281	ORPHA:2026
23461	ABCA5	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2026
23461	ABCA5	HP:0002230	Generalized hirsutism	HP:0040281	ORPHA:2026
23461	ABCA5	HP:0001007	Hirsutism	HP:0040281	ORPHA:2026
23461	ABCA5	HP:0001007	Hirsutism	-	OMIM:135400
23461	ABCA5	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2026
23461	ABCA5	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:2026
23461	ABCA5	HP:0000664	Synophrys	HP:0040283	ORPHA:2026
23461	ABCA5	HP:0012810	Wide nasal base	HP:0040283	OMIM:135400
23461	ABCA5	HP:0004540	Congenital, generalized hypertrichosis	-	OMIM:135400
23461	ABCA5	HP:0000998	Hypertrichosis	-	OMIM:135400
23461	ABCA5	HP:0000286	Epicanthus	HP:0040283	OMIM:135400
23461	ABCA5	HP:0000280	Coarse facial features	HP:0040282	ORPHA:2026
23461	ABCA5	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:2026
23461	ABCA5	HP:0000494	Downslanted palpebral fissures	HP:0040283	OMIM:135400
23461	ABCA5	HP:0000414	Bulbous nose	HP:0040283	OMIM:135400
23461	ABCA5	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:2026
23474	ETHE1	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:51188
23474	ETHE1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:51188
23474	ETHE1	HP:0001298	Encephalopathy	-	OMIM:602473
23474	ETHE1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:51188
23474	ETHE1	HP:0001250	Seizure	HP:0040282	ORPHA:51188
23474	ETHE1	HP:0001250	Seizure	4/8	OMIM:602473
23474	ETHE1	HP:0001252	Hypotonia	7/8	OMIM:602473
23474	ETHE1	HP:0001251	Ataxia	HP:0040282	ORPHA:51188
23474	ETHE1	HP:0001251	Ataxia	-	OMIM:602473
23474	ETHE1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:51188
23474	ETHE1	HP:0001249	Intellectual disability	-	OMIM:602473
23474	ETHE1	HP:0001263	Global developmental delay	6/6	OMIM:602473
23474	ETHE1	HP:6000757	Elevated circulating thiosulfate concentration	-	OMIM:602473
23474	ETHE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:602473
23474	ETHE1	HP:0002028	Chronic diarrhea	6/8	OMIM:602473
23474	ETHE1	HP:0002014	Diarrhea	HP:0040282	ORPHA:51188
23474	ETHE1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:51188
23474	ETHE1	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:602473
23474	ETHE1	HP:0003487	Babinski sign	1/3	OMIM:602473
23474	ETHE1	HP:0003593	Infantile onset	8/8	OMIM:602473
23474	ETHE1	HP:0011968	Feeding difficulties	2/3	OMIM:602473
23474	ETHE1	HP:0001063	Acrocyanosis	HP:0040282	ORPHA:51188
23474	ETHE1	HP:0001063	Acrocyanosis	4/5	OMIM:602473
23474	ETHE1	HP:0003688	Cytochrome C oxidase-negative muscle fibers	11/11	OMIM:602473
23474	ETHE1	HP:0002376	Developmental regression	HP:0040282	ORPHA:51188
23474	ETHE1	HP:0002376	Developmental regression	3/4	OMIM:602473
23474	ETHE1	HP:0033446	Elevated circulating butyrylcarnitine concentration	1/1	OMIM:602473
23474	ETHE1	HP:0007183	Focal T2 hyperintense basal ganglia lesion	1/2	OMIM:602473
23474	ETHE1	HP:0012747	Abnormal brainstem MRI signal intensity	HP:0040283	ORPHA:51188
23474	ETHE1	HP:0012751	Abnormal basal ganglia MRI signal intensity	HP:0040282	ORPHA:51188
23474	ETHE1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:51188
23474	ETHE1	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:51188
23474	ETHE1	HP:0003128	Lactic acidosis	6/6	OMIM:602473
23474	ETHE1	HP:0012841	Retinal vascular tortuosity	HP:0040282	ORPHA:51188
23474	ETHE1	HP:0003219	Ethylmalonic aciduria	HP:0040281	ORPHA:51188
23474	ETHE1	HP:0003219	Ethylmalonic aciduria	5/5	OMIM:602473
23474	ETHE1	HP:0000967	Petechiae	5/8	OMIM:602473
23474	ETHE1	HP:0000967	Petechiae	HP:0040282	ORPHA:51188
23474	ETHE1	HP:0008046	Abnormal retinal vascular morphology	-	OMIM:602473
23474	ETHE1	HP:0001522	Death in infancy	2/3	OMIM:602473
23474	ETHE1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:51188
23474	ETHE1	HP:0001508	Failure to thrive	2/3	OMIM:602473
23476	BRD4	HP:0001166	Arachnodactyly	1/1	OMIM:620568
23476	BRD4	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:199
23476	BRD4	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:199
23476	BRD4	HP:0001276	Hypertonia	HP:0040281	ORPHA:199
23476	BRD4	HP:0001250	Seizure	HP:0040283	ORPHA:199
23476	BRD4	HP:0002580	Volvulus	HP:0040283	ORPHA:199
23476	BRD4	HP:0001252	Hypotonia	HP:0040283	ORPHA:199
23476	BRD4	HP:0001249	Intellectual disability	7/8	OMIM:620568
23476	BRD4	HP:0001249	Intellectual disability	HP:0040281	ORPHA:199
23476	BRD4	HP:0001263	Global developmental delay	15/15	OMIM:620568
23476	BRD4	HP:0002557	Hypoplastic nipples	HP:0040282	ORPHA:199
23476	BRD4	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:199
23476	BRD4	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:199
23476	BRD4	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:199
23476	BRD4	HP:0002553	Highly arched eyebrow	10/12	OMIM:620568
23476	BRD4	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:199
23476	BRD4	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:199
23476	BRD4	HP:0000059	Hypoplastic labia majora	HP:0040282	ORPHA:199
23476	BRD4	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:199
23476	BRD4	HP:0001385	Hip dysplasia	2/2	OMIM:620568
23476	BRD4	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:199
23476	BRD4	HP:0001387	Joint stiffness	HP:0040282	ORPHA:199
23476	BRD4	HP:0000047	Hypospadias	HP:0040282	ORPHA:199
23476	BRD4	HP:0000023	Inguinal hernia	1/1	OMIM:620568
23476	BRD4	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:199
23476	BRD4	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199
23476	BRD4	HP:0008850	Severe postnatal growth retardation	HP:0040282	ORPHA:199
23476	BRD4	HP:0002664	Neoplasm	HP:0040281	ORPHA:443167
23476	BRD4	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:199
23476	BRD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:620568
23476	BRD4	HP:0002650	Scoliosis	2/2	OMIM:620568
23476	BRD4	HP:0012182	Oropharyngeal squamous cell carcinoma	HP:0040282	ORPHA:443167
23476	BRD4	HP:0012165	Oligodactyly	HP:0040283	ORPHA:199
23476	BRD4	HP:0012167	Hair-pulling	1/1	OMIM:620568
23476	BRD4	HP:0000175	Cleft palate	HP:0040283	ORPHA:199
23476	BRD4	HP:0012142	Pancreatic squamous cell carcinoma	HP:0040283	ORPHA:443167
23476	BRD4	HP:0007665	Curly eyelashes	HP:0040281	ORPHA:199
23476	BRD4	HP:0410030	Cleft lip	1/1	OMIM:620568
23476	BRD4	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:199
23476	BRD4	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:199
23476	BRD4	HP:0002750	Delayed skeletal maturation	1/1	OMIM:620568
23476	BRD4	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:199
23476	BRD4	HP:0002714	Downturned corners of mouth	HP:0040281	ORPHA:199
23476	BRD4	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:199
23476	BRD4	HP:0002020	Gastroesophageal reflux	1/1	OMIM:620568
23476	BRD4	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:199
23476	BRD4	HP:0002079	Hypoplasia of the corpus callosum	2/12	OMIM:620568
23476	BRD4	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:199
23476	BRD4	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:199
23476	BRD4	HP:0009623	Proximal placement of thumb	HP:0040281	ORPHA:199
23476	BRD4	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:199
23476	BRD4	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:199
23476	BRD4	HP:0003593	Infantile onset	10/14	OMIM:620568
23476	BRD4	HP:0003577	Congenital onset	4/16	OMIM:620568
23476	BRD4	HP:0002236	Frontal upsweep of hair	4/4	OMIM:620568
23476	BRD4	HP:0002230	Generalized hirsutism	HP:0040281	ORPHA:199
23476	BRD4	HP:0100757	Pancreatoblastoma	HP:0040282	ORPHA:443167
23476	BRD4	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:199
23476	BRD4	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:199
23476	BRD4	HP:0200021	Down-sloping shoulders	1/1	OMIM:620568
23476	BRD4	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:199
23476	BRD4	HP:0200055	Small hand	HP:0040281	ORPHA:199
23476	BRD4	HP:0004935	Pulmonary artery atresia	1/1	OMIM:620568
23476	BRD4	HP:0004209	Clinodactyly of the 5th finger	2/2	OMIM:620568
23476	BRD4	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:199
23476	BRD4	HP:0004279	Short palm	1/1	OMIM:620568
23476	BRD4	HP:0000639	Nystagmus	HP:0040283	ORPHA:199
23476	BRD4	HP:0001956	Truncal obesity	HP:0040283	ORPHA:199
23476	BRD4	HP:0001909	Leukemia	HP:0040282	ORPHA:443167
23476	BRD4	HP:0010034	Short 1st metacarpal	HP:0040281	ORPHA:199
23476	BRD4	HP:0010034	Short 1st metacarpal	1/1	OMIM:620568
23476	BRD4	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:199
23476	BRD4	HP:0000675	Macrodontia of permanent maxillary central incisor	4/4	OMIM:620568
23476	BRD4	HP:0000687	Widely spaced teeth	HP:0040281	ORPHA:199
23476	BRD4	HP:0000667	Phthisis bulbi	HP:0040282	ORPHA:199
23476	BRD4	HP:0000664	Synophrys	8/13	OMIM:620568
23476	BRD4	HP:0000664	Synophrys	HP:0040281	ORPHA:199
23476	BRD4	HP:0004322	Short stature	HP:0040281	ORPHA:199
23476	BRD4	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:199
23476	BRD4	HP:0003042	Elbow dislocation	HP:0040282	ORPHA:199
23476	BRD4	HP:0034197	Third trimester onset	1/14	OMIM:620568
23476	BRD4	HP:0034198	Second trimester onset	1/14	OMIM:620568
23476	BRD4	HP:0003006	Neuroblastoma	HP:0040282	ORPHA:443167
23476	BRD4	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:199
23476	BRD4	HP:0000768	Pectus carinatum	1/1	OMIM:620568
23476	BRD4	HP:0000739	Anxiety	HP:0040282	ORPHA:199
23476	BRD4	HP:0000750	Delayed speech and language development	2/2	OMIM:620568
23476	BRD4	HP:0000717	Autism	HP:0040283	ORPHA:199
23476	BRD4	HP:0000722	Compulsive behaviors	1/11	OMIM:620568
23476	BRD4	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:199
23476	BRD4	HP:0000709	Psychosis	1/11	OMIM:620568
23476	BRD4	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:199
23476	BRD4	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:199
23476	BRD4	HP:0003196	Short nose	10/12	OMIM:620568
23476	BRD4	HP:0003196	Short nose	HP:0040281	ORPHA:199
23476	BRD4	HP:0000913	Posterior rib fusion	1/1	OMIM:620568
23476	BRD4	HP:0000823	Delayed puberty	HP:0040283	ORPHA:199
23476	BRD4	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:199
23476	BRD4	HP:0045026	Abnormal mediastinum morphology	HP:0040282	ORPHA:443167
23476	BRD4	HP:0045075	Sparse eyebrow	7/8	OMIM:620568
23476	BRD4	HP:0010300	Abnormally low-pitched voice	HP:0040281	ORPHA:199
23476	BRD4	HP:0000965	Cutis marmorata	HP:0040282	ORPHA:199
23476	BRD4	HP:0000294	Low anterior hairline	HP:0040281	ORPHA:199
23476	BRD4	HP:0012254	Ewing sarcoma	HP:0040282	ORPHA:443167
23476	BRD4	HP:0002827	Hip dislocation	HP:0040283	ORPHA:199
23476	BRD4	HP:0000252	Microcephaly	15/18	OMIM:620568
23476	BRD4	HP:0000252	Microcephaly	HP:0040281	ORPHA:199
23476	BRD4	HP:0000248	Brachycephaly	HP:0040281	ORPHA:199
23476	BRD4	HP:0000218	High palate	HP:0040281	ORPHA:199
23476	BRD4	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:199
23476	BRD4	HP:0001557	Prenatal movement abnormality	HP:0040283	ORPHA:199
23476	BRD4	HP:0002860	Squamous cell carcinoma	HP:0040282	ORPHA:443167
23476	BRD4	HP:0001508	Failure to thrive	HP:0040282	ORPHA:199
23476	BRD4	HP:0001511	Intrauterine growth retardation	5/14	OMIM:620568
23476	BRD4	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:199
23476	BRD4	HP:0000358	Posteriorly rotated ears	1/1	OMIM:620568
23476	BRD4	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:199
23476	BRD4	HP:0000369	Low-set ears	1/9	OMIM:620568
23476	BRD4	HP:0000343	Long philtrum	3/7	OMIM:620568
23476	BRD4	HP:0000343	Long philtrum	HP:0040281	ORPHA:199
23476	BRD4	HP:0000347	Micrognathia	HP:0040281	ORPHA:199
23476	BRD4	HP:0002983	Micromelia	HP:0040281	ORPHA:199
23476	BRD4	HP:0000316	Hypertelorism	1/1	OMIM:620568
23476	BRD4	HP:0002974	Radioulnar synostosis	HP:0040282	ORPHA:199
23476	BRD4	HP:0001629	Ventricular septal defect	3/17	OMIM:620568
23476	BRD4	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:199
23476	BRD4	HP:0001622	Premature birth	HP:0040282	ORPHA:199
23476	BRD4	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:199
23476	BRD4	HP:0000498	Blepharitis	HP:0040282	ORPHA:199
23476	BRD4	HP:0006695	Atrioventricular canal defect	1/1	OMIM:620568
23476	BRD4	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:199
23476	BRD4	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:199
23476	BRD4	HP:0000400	Macrotia	4/9	OMIM:620568
23476	BRD4	HP:0000400	Macrotia	HP:0040283	ORPHA:199
23476	BRD4	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:199
23476	BRD4	HP:0000486	Strabismus	HP:0040283	ORPHA:199
23476	BRD4	HP:0000486	Strabismus	3/7	OMIM:620568
23476	BRD4	HP:0000482	Microcornea	HP:0040282	ORPHA:199
23476	BRD4	HP:0000494	Downslanted palpebral fissures	3/9	OMIM:620568
23476	BRD4	HP:0000463	Anteverted nares	6/7	OMIM:620568
23476	BRD4	HP:0000463	Anteverted nares	HP:0040281	ORPHA:199
23476	BRD4	HP:0000470	Short neck	HP:0040281	ORPHA:199
23476	BRD4	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:199
23476	BRD4	HP:0001773	Short foot	HP:0040281	ORPHA:199
23476	BRD4	HP:0000453	Choanal atresia	HP:0040283	ORPHA:199
23476	BRD4	HP:0000413	Atresia of the external auditory canal	HP:0040281	ORPHA:199
23476	BRD4	HP:0000518	Cataract	HP:0040283	ORPHA:199
23476	BRD4	HP:0000527	Long eyelashes	HP:0040281	ORPHA:199
23476	BRD4	HP:0000506	Telecanthus	1/1	OMIM:620568
23476	BRD4	HP:0000508	Ptosis	HP:0040282	ORPHA:199
23476	BRD4	HP:0000501	Glaucoma	HP:0040283	ORPHA:199
23476	BRD4	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:199
23476	BRD4	HP:0001883	Talipes	HP:0040283	ORPHA:199
23476	BRD4	HP:0000545	Myopia	HP:0040282	ORPHA:199
23479	ISCU	HP:0002460	Distal muscle weakness	1/1	OMIM:255125
23479	ISCU	HP:0003737	Mitochondrial myopathy	-	OMIM:255125
23479	ISCU	HP:0001288	Gait disturbance	1/1	OMIM:255125
23479	ISCU	HP:0001284	Areflexia	1/1	OMIM:255125
23479	ISCU	HP:0001252	Hypotonia	1/1	OMIM:255125
23479	ISCU	HP:0001324	Muscle weakness	-	OMIM:255125
23479	ISCU	HP:0000007	Autosomal recessive inheritance	-	OMIM:255125
23479	ISCU	HP:0001488	Bilateral ptosis	1/1	OMIM:255125
23479	ISCU	HP:0002094	Dyspnea	-	OMIM:255125
23479	ISCU	HP:0003394	Muscle spasm	-	OMIM:255125
23479	ISCU	HP:0003388	Easy fatigability	1/1	OMIM:255125
23479	ISCU	HP:0002151	Increased circulating lactate concentration	-	OMIM:255125
23479	ISCU	HP:0011924	Decreased activity of mitochondrial complex III	1/1	OMIM:255125
23479	ISCU	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:255125
23479	ISCU	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	-	OMIM:255125
23479	ISCU	HP:0003546	Exercise intolerance	1/1	OMIM:255125
23479	ISCU	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:255125
23479	ISCU	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:255125
23479	ISCU	HP:0008314	Decreased activity of mitochondrial complex II	1/1	OMIM:255125
23479	ISCU	HP:0008306	Abnormal iron deposition in mitochondria	-	OMIM:255125
23479	ISCU	HP:0002359	Frequent falls	1/1	OMIM:255125
23479	ISCU	HP:0003621	Juvenile onset	-	OMIM:255125
23479	ISCU	HP:0001962	Palpitations	-	OMIM:255125
23479	ISCU	HP:0001924	Sideroblastic anemia	-	OMIM:255125
23479	ISCU	HP:0001903	Anemia	1/1	OMIM:255125
23479	ISCU	HP:0011463	Childhood onset	1/1	OMIM:255125
23479	ISCU	HP:0003198	Myopathy	-	OMIM:255125
23479	ISCU	HP:0003128	Lactic acidosis	-	OMIM:255125
23479	ISCU	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:255125
23479	ISCU	HP:0003202	Skeletal muscle atrophy	1/1	OMIM:255125
23479	ISCU	HP:0003201	Rhabdomyolysis	HP:0040283	OMIM:255125
23479	ISCU	HP:0012240	Increased intramyocellular lipid droplets	-	OMIM:255125
23479	ISCU	HP:0002913	Myoglobinuria	-	OMIM:255125
23479	ISCU	HP:0000597	Ophthalmoparesis	1/1	OMIM:255125
23479	ISCU	HP:0001882	Decreased total leukocyte count	1/1	OMIM:255125
23483	TGDS	HP:0001181	Adducted thumb	1/5	OMIM:616145
23483	TGDS	HP:0009933	Narrow naris	1/5	OMIM:616145
23483	TGDS	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
23483	TGDS	HP:0001293	Cranial nerve compression	-	OMIM:131300
23483	TGDS	HP:0001250	Seizure	-	OMIM:616145
23483	TGDS	HP:0001252	Hypotonia	2/7	OMIM:615777
23483	TGDS	HP:0001249	Intellectual disability	5/7	OMIM:615777
23483	TGDS	HP:0001263	Global developmental delay	-	OMIM:616145
23483	TGDS	HP:0001263	Global developmental delay	-	OMIM:615777
23483	TGDS	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:1388
23483	TGDS	HP:0002515	Waddling gait	54/102	OMIM:131300
23483	TGDS	HP:0001373	Joint dislocation	-	OMIM:616145
23483	TGDS	HP:0001387	Joint stiffness	HP:0040282	ORPHA:1388
23483	TGDS	HP:0001382	Joint hypermobility	2/2	OMIM:616145
23483	TGDS	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:1388
23483	TGDS	HP:0001382	Joint hypermobility	-	OMIM:615777
23483	TGDS	HP:0000023	Inguinal hernia	-	OMIM:616145
23483	TGDS	HP:0002694	Sclerosis of skull base	-	OMIM:131300
23483	TGDS	HP:0000028	Cryptorchidism	-	OMIM:616145
23483	TGDS	HP:0008897	Postnatal growth retardation	2/5	OMIM:616145
23483	TGDS	HP:0008897	Postnatal growth retardation	-	OMIM:615777
23483	TGDS	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
23483	TGDS	HP:0001324	Muscle weakness	40/96	OMIM:131300
23483	TGDS	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
23483	TGDS	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
23483	TGDS	HP:0000007	Autosomal recessive inheritance	-	OMIM:616145
23483	TGDS	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
23483	TGDS	HP:0002650	Scoliosis	1/5	OMIM:616145
23483	TGDS	HP:0002650	Scoliosis	12/14	OMIM:131300
23483	TGDS	HP:0002650	Scoliosis	HP:0040282	ORPHA:1388
23483	TGDS	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
23483	TGDS	HP:0002623	Overriding aorta	-	OMIM:616145
23483	TGDS	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
23483	TGDS	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
23483	TGDS	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
23483	TGDS	HP:0000193	Bifid uvula	1/7	OMIM:616145
23483	TGDS	HP:0000160	Narrow mouth	1/5	OMIM:616145
23483	TGDS	HP:0000162	Glossoptosis	-	OMIM:616145
23483	TGDS	HP:0000162	Glossoptosis	HP:0040281	ORPHA:1388
23483	TGDS	HP:0000175	Cleft palate	6/7	OMIM:616145
23483	TGDS	HP:0000175	Cleft palate	HP:0040281	ORPHA:1388
23483	TGDS	HP:0000175	Cleft palate	2/7	OMIM:615777
23483	TGDS	HP:0003388	Easy fatigability	36/76	OMIM:131300
23483	TGDS	HP:0009464	Ulnar deviation of the 2nd finger	-	OMIM:616145
23483	TGDS	HP:0009467	Radial deviation of the 2nd finger	HP:0040283	ORPHA:1388
23483	TGDS	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
23483	TGDS	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:1388
23483	TGDS	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:1388
23483	TGDS	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:1388
23483	TGDS	HP:0010508	Metatarsus valgus	HP:0040283	ORPHA:1388
23483	TGDS	HP:0003577	Congenital onset	7/7	OMIM:616145
23483	TGDS	HP:0003510	Severe short stature	7/7	OMIM:615777
23483	TGDS	HP:0002315	Headache	-	OMIM:131300
23483	TGDS	HP:0004976	Knee dislocation	6/7	OMIM:615777
23483	TGDS	HP:0009803	Short phalanx of finger	-	OMIM:615777
23483	TGDS	HP:0010763	Low insertion of columella	1/5	OMIM:616145
23483	TGDS	HP:0009763	Limb pain	63/92	OMIM:131300
23483	TGDS	HP:0003621	Juvenile onset	-	OMIM:131300
23483	TGDS	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
23483	TGDS	HP:0004209	Clinodactyly of the 5th finger	3/5	OMIM:616145
23483	TGDS	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:1388
23483	TGDS	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
23483	TGDS	HP:6001056	Out-toeing	-	OMIM:131300
23483	TGDS	HP:0000651	Diplopia	-	OMIM:131300
23483	TGDS	HP:0001956	Truncal obesity	2/7	OMIM:615777
23483	TGDS	HP:0001903	Anemia	HP:0040283	OMIM:131300
23483	TGDS	HP:0010049	Short metacarpal	-	OMIM:615777
23483	TGDS	HP:0010049	Short metacarpal	1/5	OMIM:616145
23483	TGDS	HP:0000678	Dental crowding	-	OMIM:615777
23483	TGDS	HP:0000670	Carious teeth	-	OMIM:131300
23483	TGDS	HP:0011304	Broad thumb	2/7	OMIM:615777
23483	TGDS	HP:0000668	Hypodontia	-	OMIM:615777
23483	TGDS	HP:0000664	Synophrys	-	OMIM:615777
23483	TGDS	HP:0004322	Short stature	HP:0040282	ORPHA:1388
23483	TGDS	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1388
23483	TGDS	HP:0004396	Poor appetite	-	OMIM:131300
23483	TGDS	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
23483	TGDS	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
23483	TGDS	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
23483	TGDS	HP:0003026	Short long bone	7/7	OMIM:615777
23483	TGDS	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
23483	TGDS	HP:0000767	Pectus excavatum	-	OMIM:616145
23483	TGDS	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:1388
23483	TGDS	HP:0000767	Pectus excavatum	2/7	OMIM:615777
23483	TGDS	HP:0000768	Pectus carinatum	-	OMIM:616145
23483	TGDS	HP:0000768	Pectus carinatum	1/7	OMIM:615777
23483	TGDS	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
23483	TGDS	HP:0000750	Delayed speech and language development	-	OMIM:615777
23483	TGDS	HP:0011461	Fetal onset	7/7	OMIM:615777
23483	TGDS	HP:0000774	Narrow chest	2/7	OMIM:615777
23483	TGDS	HP:0000926	Platyspondyly	1/7	OMIM:615777
23483	TGDS	HP:0003180	Flat acetabular roof	-	OMIM:615777
23483	TGDS	HP:0004482	Relative macrocephaly	-	OMIM:615777
23483	TGDS	HP:0005792	Short humerus	1/5	OMIM:616145
23483	TGDS	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
23483	TGDS	HP:0003097	Short femur	1/5	OMIM:616145
23483	TGDS	HP:0000823	Delayed puberty	-	OMIM:131300
23483	TGDS	HP:0010285	Oral synechia	HP:0040283	ORPHA:1388
23483	TGDS	HP:0000894	Short clavicles	-	OMIM:615777
23483	TGDS	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
23483	TGDS	HP:0045074	Thin eyebrow	3/5	OMIM:616145
23483	TGDS	HP:0000954	Single transverse palmar crease	-	OMIM:616145
23483	TGDS	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
23483	TGDS	HP:0000286	Epicanthus	1/7	OMIM:615777
23483	TGDS	HP:0000280	Coarse facial features	2/7	OMIM:615777
23483	TGDS	HP:0000293	Full cheeks	1/5	OMIM:616145
23483	TGDS	HP:0000293	Full cheeks	HP:0040282	ORPHA:1388
23483	TGDS	HP:0000272	Malar flattening	HP:0040281	ORPHA:1388
23483	TGDS	HP:0002827	Hip dislocation	3/7	OMIM:615777
23483	TGDS	HP:0000252	Microcephaly	-	OMIM:615777
23483	TGDS	HP:0000218	High palate	1/7	OMIM:616145
23483	TGDS	HP:0002857	Genu valgum	-	OMIM:131300
23483	TGDS	HP:0002857	Genu valgum	1/5	OMIM:616145
23483	TGDS	HP:0001537	Umbilical hernia	-	OMIM:616145
23483	TGDS	HP:0001533	Slender build	-	OMIM:131300
23483	TGDS	HP:0000201	Pierre-Robin sequence	7/7	OMIM:616145
23483	TGDS	HP:0000204	Cleft upper lip	-	OMIM:616145
23483	TGDS	HP:0001508	Failure to thrive	HP:0040281	ORPHA:1388
23483	TGDS	HP:0001511	Intrauterine growth retardation	-	OMIM:616145
23483	TGDS	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
23483	TGDS	HP:0007807	Optic nerve compression	-	OMIM:131300
23483	TGDS	HP:0012385	Camptodactyly	-	OMIM:616145
23483	TGDS	HP:0012368	Flat face	7/7	OMIM:615777
23483	TGDS	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:1388
23483	TGDS	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
23483	TGDS	HP:0000365	Hearing impairment	10/67	OMIM:131300
23483	TGDS	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1388
23483	TGDS	HP:0000369	Low-set ears	2/5	OMIM:616145
23483	TGDS	HP:0000343	Long philtrum	1/7	OMIM:615777
23483	TGDS	HP:0011001	Increased bone mineral density	-	OMIM:131300
23483	TGDS	HP:0001680	Coarctation of aorta	-	OMIM:616145
23483	TGDS	HP:0000347	Micrognathia	5/5	OMIM:616145
23483	TGDS	HP:0000347	Micrognathia	HP:0040281	ORPHA:1388
23483	TGDS	HP:0001651	Dextrocardia	-	OMIM:616145
23483	TGDS	HP:0000316	Hypertelorism	3/5	OMIM:616145
23483	TGDS	HP:0000316	Hypertelorism	HP:0040283	ORPHA:1388
23483	TGDS	HP:0000311	Round face	2/7	OMIM:615777
23483	TGDS	HP:0001629	Ventricular septal defect	2/7	OMIM:616145
23483	TGDS	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:1388
23483	TGDS	HP:0002970	Genu varum	-	OMIM:615777
23483	TGDS	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1388
23483	TGDS	HP:0000303	Mandibular prognathia	-	OMIM:131300
23483	TGDS	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
23483	TGDS	HP:0000476	Cystic hygroma	-	OMIM:616145
23483	TGDS	HP:0000460	Narrow nose	1/5	OMIM:616145
23483	TGDS	HP:0000470	Short neck	1/5	OMIM:616145
23483	TGDS	HP:0000470	Short neck	1/7	OMIM:615777
23483	TGDS	HP:0001769	Broad foot	HP:0040283	OMIM:615777
23483	TGDS	HP:0001763	Pes planus	1/7	OMIM:615777
23483	TGDS	HP:0001762	Talipes equinovarus	-	OMIM:616145
23483	TGDS	HP:0001840	Metatarsus adductus	-	OMIM:615777
23483	TGDS	HP:0000520	Proptosis	2/4	OMIM:131300
23483	TGDS	HP:0000520	Proptosis	1/5	OMIM:616145
23483	TGDS	HP:0000520	Proptosis	7/7	OMIM:615777
23483	TGDS	HP:0001831	Short toe	1/5	OMIM:616145
23483	TGDS	HP:0000582	Upslanted palpebral fissure	1/5	OMIM:616145
23483	TGDS	HP:0000579	Nasolacrimal duct obstruction	1/5	OMIM:616145
23483	TGDS	HP:0030368	Hyperphalangy of the 2nd finger	-	OMIM:616145
23483	TGDS	HP:0000592	Blue sclerae	2/7	OMIM:615777
23483	TGDS	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
23483	TGDS	HP:0012514	Lower limb pain	4/4	OMIM:131300
23493	HEY2	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
23493	HEY2	HP:0001297	Stroke	HP:0040283	ORPHA:91387
23493	HEY2	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
23493	HEY2	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
23493	HEY2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
23493	HEY2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
23493	HEY2	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
23493	HEY2	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
23493	HEY2	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
23493	HEY2	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
23493	HEY2	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
23493	HEY2	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
23493	HEY2	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
23493	HEY2	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
23493	HEY2	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
23493	HEY2	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
23493	HEY2	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
23493	HEY2	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
23493	HEY2	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
23493	HEY2	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
23493	HEY2	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
23493	HEY2	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
23493	HEY2	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
23493	HEY2	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
23493	HEY2	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
23493	HEY2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
23493	HEY2	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
23493	HEY2	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
23493	HEY2	HP:0004467	Preauricular pit	-	OMIM:187500
23493	HEY2	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
23493	HEY2	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
23493	HEY2	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
23493	HEY2	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
23493	HEY2	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
23493	HEY2	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
23493	HEY2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
23493	HEY2	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
23493	HEY2	HP:0000337	Broad forehead	-	OMIM:187500
23493	HEY2	HP:0001664	Torsade de pointes	1/46	OMIM:115000
23493	HEY2	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
23493	HEY2	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
23493	HEY2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
23493	HEY2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
23493	HEY2	HP:0001645	Sudden cardiac death	-	OMIM:115000
23493	HEY2	HP:0001663	Ventricular fibrillation	-	OMIM:115000
23493	HEY2	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
23493	HEY2	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
23493	HEY2	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
23493	HEY2	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
23493	HEY2	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
23493	HEY2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
23493	HEY2	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
23493	HEY2	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
23493	HEY2	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
23493	HEY2	HP:0000520	Proptosis	-	OMIM:187500
23495	TNFRSF13B	HP:0001287	Meningitis	-	OMIM:240500
23495	TNFRSF13B	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	4/4	OMIM:240500
23495	TNFRSF13B	HP:0002664	Neoplasm	-	OMIM:240500
23495	TNFRSF13B	HP:0000007	Autosomal recessive inheritance	-	OMIM:240500
23495	TNFRSF13B	HP:0002665	Lymphoma	-	OMIM:240500
23495	TNFRSF13B	HP:0000006	Autosomal dominant inheritance	-	OMIM:240500
23495	TNFRSF13B	HP:0002718	Recurrent bacterial infections	-	OMIM:240500
23495	TNFRSF13B	HP:0002716	Lymphadenopathy	-	OMIM:240500
23495	TNFRSF13B	HP:0002729	Follicular hyperplasia	-	OMIM:240500
23495	TNFRSF13B	HP:0002720	Decreased circulating IgA concentration	5/5	OMIM:240500
23495	TNFRSF13B	HP:0002720	Decreased circulating IgA concentration	-	OMIM:609529
23495	TNFRSF13B	HP:0002014	Diarrhea	-	OMIM:240500
23495	TNFRSF13B	HP:0004798	Recurrent infection of the gastrointestinal tract	-	OMIM:609529
23495	TNFRSF13B	HP:0002110	Bronchiectasis	-	OMIM:240500
23495	TNFRSF13B	HP:0011840	Abnormality of T cell physiology	-	OMIM:240500
23495	TNFRSF13B	HP:0011839	Abnormal T cell count	0/5	OMIM:240500
23495	TNFRSF13B	HP:0002240	Hepatomegaly	-	OMIM:240500
23495	TNFRSF13B	HP:0004315	Decreased circulating IgG concentration	4/5	OMIM:240500
23495	TNFRSF13B	HP:0004332	Abnormal lymphocyte morphology	-	OMIM:609529
23495	TNFRSF13B	HP:0002837	Recurrent bronchitis	5/5	OMIM:240500
23495	TNFRSF13B	HP:0002850	Decreased circulating total IgM	0/5	OMIM:240500
23495	TNFRSF13B	HP:0006532	Recurrent pneumonia	-	OMIM:240500
23495	TNFRSF13B	HP:0002960	Autoimmunity	-	OMIM:240500
23495	TNFRSF13B	HP:0002960	Autoimmunity	-	OMIM:609529
23495	TNFRSF13B	HP:0005387	Combined immunodeficiency	5/5	OMIM:240500
23495	TNFRSF13B	HP:0000403	Recurrent otitis media	5/5	OMIM:240500
23495	TNFRSF13B	HP:0011108	Recurrent sinusitis	5/5	OMIM:240500
23495	TNFRSF13B	HP:0001744	Splenomegaly	-	OMIM:240500
23495	TNFRSF13B	HP:0005425	Recurrent sinopulmonary infections	-	OMIM:609529
23495	TNFRSF13B	HP:0000509	Conjunctivitis	-	OMIM:240500
23498	HAAO	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
23498	HAAO	HP:0001293	Cranial nerve compression	-	OMIM:131300
23498	HAAO	HP:0001252	Hypotonia	2/7	OMIM:615777
23498	HAAO	HP:0001249	Intellectual disability	1/2	OMIM:617660
23498	HAAO	HP:0001249	Intellectual disability	5/7	OMIM:615777
23498	HAAO	HP:0001263	Global developmental delay	1/2	OMIM:617660
23498	HAAO	HP:0001263	Global developmental delay	-	OMIM:615777
23498	HAAO	HP:0002515	Waddling gait	54/102	OMIM:131300
23498	HAAO	HP:0000089	Renal hypoplasia	2/2	OMIM:617660
23498	HAAO	HP:0000076	Vesicoureteral reflux	1/2	OMIM:617660
23498	HAAO	HP:0001382	Joint hypermobility	-	OMIM:615777
23498	HAAO	HP:0002694	Sclerosis of skull base	-	OMIM:131300
23498	HAAO	HP:0008897	Postnatal growth retardation	-	OMIM:615777
23498	HAAO	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
23498	HAAO	HP:0001324	Muscle weakness	40/96	OMIM:131300
23498	HAAO	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
23498	HAAO	HP:0000007	Autosomal recessive inheritance	-	OMIM:617660
23498	HAAO	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
23498	HAAO	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
23498	HAAO	HP:0002650	Scoliosis	12/14	OMIM:131300
23498	HAAO	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
23498	HAAO	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
23498	HAAO	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
23498	HAAO	HP:0000193	Bifid uvula	1/2	OMIM:617660
23498	HAAO	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
23498	HAAO	HP:0000176	Submucous cleft hard palate	1/2	OMIM:617660
23498	HAAO	HP:0000175	Cleft palate	2/7	OMIM:615777
23498	HAAO	HP:0003316	Butterfly vertebrae	1/2	OMIM:617660
23498	HAAO	HP:0005950	Laryngeal web	1/2	OMIM:617660
23498	HAAO	HP:0003388	Easy fatigability	36/76	OMIM:131300
23498	HAAO	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
23498	HAAO	HP:0002144	Tethered cord	1/2	OMIM:617660
23498	HAAO	HP:0003577	Congenital onset	2/2	OMIM:617660
23498	HAAO	HP:0003510	Severe short stature	7/7	OMIM:615777
23498	HAAO	HP:0002315	Headache	-	OMIM:131300
23498	HAAO	HP:0004976	Knee dislocation	6/7	OMIM:615777
23498	HAAO	HP:0009803	Short phalanx of finger	-	OMIM:615777
23498	HAAO	HP:0009763	Limb pain	63/92	OMIM:131300
23498	HAAO	HP:0003621	Juvenile onset	-	OMIM:131300
23498	HAAO	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
23498	HAAO	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
23498	HAAO	HP:6001056	Out-toeing	-	OMIM:131300
23498	HAAO	HP:0000651	Diplopia	-	OMIM:131300
23498	HAAO	HP:0001956	Truncal obesity	2/7	OMIM:615777
23498	HAAO	HP:0001903	Anemia	HP:0040283	OMIM:131300
23498	HAAO	HP:0010049	Short metacarpal	-	OMIM:615777
23498	HAAO	HP:0000678	Dental crowding	-	OMIM:615777
23498	HAAO	HP:0000670	Carious teeth	-	OMIM:131300
23498	HAAO	HP:0011304	Broad thumb	2/7	OMIM:615777
23498	HAAO	HP:0000668	Hypodontia	-	OMIM:615777
23498	HAAO	HP:0000664	Synophrys	-	OMIM:615777
23498	HAAO	HP:0004322	Short stature	1/2	OMIM:617660
23498	HAAO	HP:0004383	Hypoplastic left heart	1/2	OMIM:617660
23498	HAAO	HP:0004396	Poor appetite	-	OMIM:131300
23498	HAAO	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
23498	HAAO	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
23498	HAAO	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
23498	HAAO	HP:0003026	Short long bone	7/7	OMIM:615777
23498	HAAO	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
23498	HAAO	HP:0000767	Pectus excavatum	2/7	OMIM:615777
23498	HAAO	HP:0000768	Pectus carinatum	1/7	OMIM:615777
23498	HAAO	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
23498	HAAO	HP:0000750	Delayed speech and language development	-	OMIM:615777
23498	HAAO	HP:0011461	Fetal onset	7/7	OMIM:615777
23498	HAAO	HP:0000774	Narrow chest	2/7	OMIM:615777
23498	HAAO	HP:0000926	Platyspondyly	1/7	OMIM:615777
23498	HAAO	HP:0003180	Flat acetabular roof	-	OMIM:615777
23498	HAAO	HP:0004482	Relative macrocephaly	-	OMIM:615777
23498	HAAO	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
23498	HAAO	HP:0012821	Unilateral vocal cord paresis	1/2	OMIM:617660
23498	HAAO	HP:0000823	Delayed puberty	-	OMIM:131300
23498	HAAO	HP:0000894	Short clavicles	-	OMIM:615777
23498	HAAO	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
23498	HAAO	HP:0010301	Spinal dysraphism	1/2	OMIM:617660
23498	HAAO	HP:0010305	Absence of the sacrum	11/12	OMIM:617660
23498	HAAO	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
23498	HAAO	HP:0000286	Epicanthus	1/7	OMIM:615777
23498	HAAO	HP:0000280	Coarse facial features	2/7	OMIM:615777
23498	HAAO	HP:0002827	Hip dislocation	3/7	OMIM:615777
23498	HAAO	HP:0000252	Microcephaly	2/2	OMIM:617660
23498	HAAO	HP:0000252	Microcephaly	-	OMIM:615777
23498	HAAO	HP:0002857	Genu valgum	-	OMIM:131300
23498	HAAO	HP:0001533	Slender build	-	OMIM:131300
23498	HAAO	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
23498	HAAO	HP:0007807	Optic nerve compression	-	OMIM:131300
23498	HAAO	HP:0012368	Flat face	7/7	OMIM:615777
23498	HAAO	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
23498	HAAO	HP:0001601	Laryngomalacia	1/2	OMIM:617660
23498	HAAO	HP:0000365	Hearing impairment	10/67	OMIM:131300
23498	HAAO	HP:0000376	Incomplete partition of the cochlea type II	1/2	OMIM:617660
23498	HAAO	HP:0000343	Long philtrum	1/7	OMIM:615777
23498	HAAO	HP:0011001	Increased bone mineral density	-	OMIM:131300
23498	HAAO	HP:0001650	Aortic valve stenosis	-	OMIM:617660
23498	HAAO	HP:0000311	Round face	2/7	OMIM:615777
23498	HAAO	HP:0002970	Genu varum	-	OMIM:615777
23498	HAAO	HP:0001631	Atrial septal defect	1/2	OMIM:617660
23498	HAAO	HP:0000303	Mandibular prognathia	-	OMIM:131300
23498	HAAO	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:617660
23498	HAAO	HP:0001718	Mitral stenosis	-	OMIM:617660
23498	HAAO	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
23498	HAAO	HP:0000470	Short neck	1/7	OMIM:615777
23498	HAAO	HP:0001769	Broad foot	HP:0040283	OMIM:615777
23498	HAAO	HP:0001763	Pes planus	1/7	OMIM:615777
23498	HAAO	HP:0001840	Metatarsus adductus	-	OMIM:615777
23498	HAAO	HP:0000520	Proptosis	2/4	OMIM:131300
23498	HAAO	HP:0000520	Proptosis	7/7	OMIM:615777
23498	HAAO	HP:0000592	Blue sclerae	2/7	OMIM:615777
23498	HAAO	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
23498	HAAO	HP:0001883	Talipes	1/2	OMIM:617660
23498	HAAO	HP:0012514	Lower limb pain	4/4	OMIM:131300
23499	MACF1	HP:0025100	Abnormal hippocampus morphology	HP:0040281	ORPHA:572013
23499	MACF1	HP:0025101	Dysgenesis of the hippocampus	9/9	OMIM:618325
23499	MACF1	HP:0010864	Intellectual disability, severe	9/9	OMIM:618325
23499	MACF1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:572013
23499	MACF1	HP:0001250	Seizure	9/9	OMIM:618325
23499	MACF1	HP:0001252	Hypotonia	7/9	OMIM:618325
23499	MACF1	HP:0001263	Global developmental delay	9/9	OMIM:618325
23499	MACF1	HP:0001257	Spasticity	3/9	OMIM:618325
23499	MACF1	HP:0001257	Spasticity	HP:0040283	ORPHA:572013
23499	MACF1	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:572013
23499	MACF1	HP:0025336	Delayed ability to sit	5/9	OMIM:618325
23499	MACF1	HP:0033725	Thin corpus callosum	HP:0040282	ORPHA:572013
23499	MACF1	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:572013
23499	MACF1	HP:0001344	Absent speech	4/9	OMIM:618325
23499	MACF1	HP:0001339	Lissencephaly	9/9	OMIM:618325
23499	MACF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618325
23499	MACF1	HP:0001302	Pachygyria	HP:0040281	ORPHA:572013
23499	MACF1	HP:0001302	Pachygyria	9/9	OMIM:618325
23499	MACF1	HP:0001320	Cerebellar vermis hypoplasia	7/9	OMIM:618325
23499	MACF1	HP:0008936	Axial hypotonia	HP:0040281	ORPHA:572013
23499	MACF1	HP:0012110	Hypoplasia of the pons	8/9	OMIM:618325
23499	MACF1	HP:0002015	Dysphagia	-	OMIM:618325
23499	MACF1	HP:0002015	Dysphagia	HP:0040282	ORPHA:572013
23499	MACF1	HP:0002069	Bilateral tonic-clonic seizure	7/9	OMIM:618325
23499	MACF1	HP:0002079	Hypoplasia of the corpus callosum	7/9	OMIM:618325
23499	MACF1	HP:0034405	Enlarged tectum	1/9	OMIM:618325
23499	MACF1	HP:0003593	Infantile onset	7/9	OMIM:618325
23499	MACF1	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:572013
23499	MACF1	HP:0100704	Cerebral visual impairment	2/7	OMIM:618325
23499	MACF1	HP:0011968	Feeding difficulties	2/7	OMIM:618325
23499	MACF1	HP:0002384	Focal impaired awareness seizure	3/9	OMIM:618325
23499	MACF1	HP:0002365	Hypoplasia of the brainstem	8/9	OMIM:618325
23499	MACF1	HP:0003621	Juvenile onset	1/9	OMIM:618325
23499	MACF1	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:572013
23499	MACF1	HP:0004322	Short stature	1/9	OMIM:618325
23499	MACF1	HP:0004305	Involuntary movements	HP:0040282	ORPHA:572013
23499	MACF1	HP:0004305	Involuntary movements	HP:0040284	OMIM:618325
23499	MACF1	HP:0031936	Delayed ability to walk	8/9	OMIM:618325
23499	MACF1	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:572013
23499	MACF1	HP:0011463	Childhood onset	1/9	OMIM:618325
23499	MACF1	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:572013
23499	MACF1	HP:0100307	Cerebellar hemisphere hypoplasia	7/9	OMIM:618325
23499	MACF1	HP:0000286	Epicanthus	1/9	OMIM:618325
23499	MACF1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:572013
23499	MACF1	HP:0000252	Microcephaly	2/8	OMIM:618325
23499	MACF1	HP:0000369	Low-set ears	1/9	OMIM:618325
23499	MACF1	HP:0032794	Myoclonic seizure	HP:0040283	ORPHA:572013
23499	MACF1	HP:0032794	Myoclonic seizure	5/9	OMIM:618325
23499	MACF1	HP:0000316	Hypertelorism	1/9	OMIM:618325
23499	MACF1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:572013
23499	MACF1	HP:0001629	Ventricular septal defect	1/9	OMIM:618325
23499	MACF1	HP:0030303	Hypoplastic anterior commissure	9/9	OMIM:618325
23499	MACF1	HP:0030301	Abnormality of the anterior commissure	HP:0040281	ORPHA:572013
23499	MACF1	HP:0005280	Depressed nasal bridge	1/9	OMIM:618325
23499	MACF1	HP:0000486	Strabismus	3/5	OMIM:618325
23499	MACF1	HP:0000486	Strabismus	HP:0040282	ORPHA:572013
23499	MACF1	HP:0012469	Infantile spasms	HP:0040283	ORPHA:572013
23499	MACF1	HP:0012469	Infantile spasms	2/9	OMIM:618325
23500	DAAM2	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
23500	DAAM2	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
23500	DAAM2	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
23500	DAAM2	HP:0000097	Focal segmental glomerulosclerosis	4/4	OMIM:619263
23500	DAAM2	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
23500	DAAM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619263
23500	DAAM2	HP:0031266	Podocyte foot process effacement	4/4	OMIM:619263
23500	DAAM2	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
23500	DAAM2	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
23500	DAAM2	HP:0033132	Renal cortical hyperechogenicity	-	OMIM:619263
23500	DAAM2	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
23500	DAAM2	HP:0002315	Headache	HP:0040283	ORPHA:656
23500	DAAM2	HP:0003621	Juvenile onset	2/4	OMIM:619263
23500	DAAM2	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
23500	DAAM2	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
23500	DAAM2	HP:0001945	Fever	HP:0040283	ORPHA:656
23500	DAAM2	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
23500	DAAM2	HP:0000737	Irritability	HP:0040283	ORPHA:656
23500	DAAM2	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
23500	DAAM2	HP:0011463	Childhood onset	2/4	OMIM:619263
23500	DAAM2	HP:0000969	Edema	HP:0040281	ORPHA:656
23500	DAAM2	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
23500	DAAM2	HP:0012588	Steroid-resistant nephrotic syndrome	4/4	OMIM:619263
23500	DAAM2	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
23503	ZFYVE26	HP:0001152	Saccadic smooth pursuit	HP:0040283	ORPHA:100996
23503	ZFYVE26	HP:0002495	Impaired vibratory sensation	HP:0040283	ORPHA:100996
23503	ZFYVE26	HP:0001288	Gait disturbance	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0001250	Seizure	HP:0040283	ORPHA:100996
23503	ZFYVE26	HP:0001251	Ataxia	-	OMIM:270700
23503	ZFYVE26	HP:0001249	Intellectual disability	-	OMIM:270700
23503	ZFYVE26	HP:0001249	Intellectual disability	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0001260	Dysarthria	-	OMIM:270700
23503	ZFYVE26	HP:0001260	Dysarthria	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0001258	Spastic paraplegia	-	OMIM:270700
23503	ZFYVE26	HP:0001258	Spastic paraplegia	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0001257	Spasticity	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0007340	Lower limb muscle weakness	-	OMIM:270700
23503	ZFYVE26	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0012045	Retinal flecks	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0000020	Urinary incontinence	-	OMIM:270700
23503	ZFYVE26	HP:0001347	Hyperreflexia	-	OMIM:270700
23503	ZFYVE26	HP:0001328	Specific learning disability	HP:0040283	ORPHA:100996
23503	ZFYVE26	HP:0001324	Muscle weakness	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0000012	Urinary urgency	-	OMIM:270700
23503	ZFYVE26	HP:0000007	Autosomal recessive inheritance	-	OMIM:270700
23503	ZFYVE26	HP:0000009	Functional abnormality of the bladder	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0001317	Abnormal cerebellum morphology	-	OMIM:270700
23503	ZFYVE26	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0002607	Bowel incontinence	-	OMIM:270700
23503	ZFYVE26	HP:0007663	Reduced visual acuity	-	OMIM:270700
23503	ZFYVE26	HP:0008969	Leg muscle stiffness	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0002064	Spastic gait	-	OMIM:270700
23503	ZFYVE26	HP:0002061	Lower limb spasticity	-	OMIM:270700
23503	ZFYVE26	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:270700
23503	ZFYVE26	HP:0002079	Hypoplasia of the corpus callosum	HP:0040281	ORPHA:100996
23503	ZFYVE26	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0003477	Peripheral axonal neuropathy	5/9	OMIM:270700
23503	ZFYVE26	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:100996
23503	ZFYVE26	HP:0003487	Babinski sign	-	OMIM:270700
23503	ZFYVE26	HP:0003487	Babinski sign	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0002169	Clonus	-	OMIM:270700
23503	ZFYVE26	HP:0010550	Paraplegia	-	OMIM:270700
23503	ZFYVE26	HP:0007024	Pseudobulbar paralysis	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0003693	Distal amyotrophy	-	OMIM:270700
23503	ZFYVE26	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:100996
23503	ZFYVE26	HP:0002378	Hand tremor	HP:0040283	ORPHA:100996
23503	ZFYVE26	HP:0003676	Progressive	-	OMIM:270700
23503	ZFYVE26	HP:0007108	Demyelinating peripheral neuropathy	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0030506	Yellow/white lesions of the retina	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0000639	Nystagmus	4/10	OMIM:270700
23503	ZFYVE26	HP:0000639	Nystagmus	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0000608	Macular degeneration	-	OMIM:270700
23503	ZFYVE26	HP:0006986	Upper limb spasticity	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0000712	Emotional lability	-	OMIM:270700
23503	ZFYVE26	HP:0000726	Dementia	HP:0040283	ORPHA:100996
23503	ZFYVE26	HP:0000709	Psychosis	-	OMIM:270700
23503	ZFYVE26	HP:0000708	Atypical behavior	HP:0040283	ORPHA:100996
23503	ZFYVE26	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:100996
23503	ZFYVE26	HP:0030892	Deep cerebral white matter hyperintensities	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0002839	Urinary bladder sphincter dysfunction	-	OMIM:270700
23503	ZFYVE26	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:100996
23503	ZFYVE26	HP:0001761	Pes cavus	-	OMIM:270700
23503	ZFYVE26	HP:0001761	Pes cavus	HP:0040283	ORPHA:100996
23503	ZFYVE26	HP:0000505	Visual impairment	-	OMIM:270700
23503	ZFYVE26	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:100996
23503	ZFYVE26	HP:0000546	Retinal degeneration	3/7	OMIM:270700
23509	POFUT1	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:79145
23509	POFUT1	HP:0001231	Abnormal fingernail morphology	HP:0040283	ORPHA:79145
23509	POFUT1	HP:0001369	Arthritis	HP:0040284	ORPHA:79145
23509	POFUT1	HP:0007502	Follicular hyperkeratosis	-	OMIM:615327
23509	POFUT1	HP:0007456	Progressive reticulate hyperpigmentation	HP:0040281	ORPHA:79145
23509	POFUT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615327
23509	POFUT1	HP:0025473	Hyperpigmented papule	HP:0040283	ORPHA:79145
23509	POFUT1	HP:0031293	Digital pitting scar	HP:0040283	ORPHA:79145
23509	POFUT1	HP:0007588	Reticular hyperpigmentation	-	OMIM:615327
23509	POFUT1	HP:0002046	Heat intolerance	HP:0040283	ORPHA:79145
23509	POFUT1	HP:0009719	Hypomelanotic macule	-	OMIM:615327
23509	POFUT1	HP:0010610	Palmar pits	HP:0040284	ORPHA:79145
23509	POFUT1	HP:0020073	Hypopigmented macule	HP:0040284	ORPHA:79145
23509	POFUT1	HP:0001034	Hypermelanotic macule	HP:0040283	ORPHA:79145
23509	POFUT1	HP:0200037	Skin vesicle	HP:0040284	ORPHA:79145
23509	POFUT1	HP:0200040	Epidermoid cyst	HP:0040284	ORPHA:79145
23509	POFUT1	HP:0011354	Generalized abnormality of skin	HP:0040284	ORPHA:79145
23509	POFUT1	HP:0009123	Mixed hypo- and hyperpigmentation of the skin	HP:0040284	ORPHA:79145
23509	POFUT1	HP:0012855	Scrotal hyperpigmentation	HP:0040283	ORPHA:79145
23509	POFUT1	HP:0045059	Hyperkeratotic papule	HP:0040283	OMIM:615327
23509	POFUT1	HP:0045059	Hyperkeratotic papule	HP:0040283	ORPHA:79145
23509	POFUT1	HP:0000989	Pruritus	HP:0040283	ORPHA:79145
23509	POFUT1	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:79145
23509	POFUT1	HP:0040154	Acne inversa	HP:0040283	ORPHA:79145
23509	POFUT1	HP:0030052	Inguinal freckling	HP:0040282	ORPHA:79145
23509	POFUT1	HP:0031525	Keratoacanthoma	HP:0040284	ORPHA:79145
23509	POFUT1	HP:0031447	Penile freckling	HP:0040283	ORPHA:79145
23509	POFUT1	HP:0000464	Abnormality of the neck	HP:0040282	ORPHA:79145
23509	POFUT1	HP:0030442	Anal margin squamous cell carcinoma	HP:0040284	ORPHA:79145
23509	POFUT1	HP:0030350	Erythematous papule	HP:0040283	ORPHA:79145
23511	NUP188	HP:0002553	Highly arched eyebrow	2/2	OMIM:618804
23511	NUP188	HP:0025325	Sparse medial eyebrow	1/2	OMIM:618804
23511	NUP188	HP:0000007	Autosomal recessive inheritance	-	OMIM:618804
23511	NUP188	HP:0007598	Bilateral single transverse palmar creases	2/2	OMIM:618804
23511	NUP188	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:618804
23511	NUP188	HP:0002119	Ventriculomegaly	2/2	OMIM:618804
23511	NUP188	HP:0002188	Delayed CNS myelination	1/2	OMIM:618804
23511	NUP188	HP:0002353	EEG abnormality	1/2	OMIM:618804
23511	NUP188	HP:0011451	Primary microcephaly	2/2	OMIM:618804
23511	NUP188	HP:0011623	Muscular ventricular septal defect	1/2	OMIM:618804
23511	NUP188	HP:0011682	Perimembranous ventricular septal defect	1/2	OMIM:618804
23511	NUP188	HP:0000286	Epicanthus	2/2	OMIM:618804
23511	NUP188	HP:0000278	Retrognathia	2/2	OMIM:618804
23511	NUP188	HP:0030084	Clinodactyly	2/2	OMIM:618804
23511	NUP188	HP:0000243	Trigonocephaly	2/2	OMIM:618804
23511	NUP188	HP:0002878	Respiratory failure	1/2	OMIM:618804
23511	NUP188	HP:0000218	High palate	1/2	OMIM:618804
23511	NUP188	HP:0001558	Decreased fetal movement	-	OMIM:618804
23511	NUP188	HP:0000202	Orofacial cleft	1/2	OMIM:618804
23511	NUP188	HP:0001518	Small for gestational age	2/2	OMIM:618804
23511	NUP188	HP:0001511	Intrauterine growth retardation	-	OMIM:618804
23511	NUP188	HP:0012385	Camptodactyly	2/2	OMIM:618804
23511	NUP188	HP:0000369	Low-set ears	2/2	OMIM:618804
23511	NUP188	HP:0000341	Narrow forehead	2/2	OMIM:618804
23511	NUP188	HP:0006610	Wide intermamillary distance	2/2	OMIM:618804
23511	NUP188	HP:0000470	Short neck	2/2	OMIM:618804
23511	NUP188	HP:0000444	Convex nasal ridge	2/2	OMIM:618804
23511	NUP188	HP:0000431	Wide nasal bridge	2/2	OMIM:618804
23511	NUP188	HP:0011272	Underdeveloped tragus	2/2	OMIM:618804
23511	NUP188	HP:0005487	Prominent metopic ridge	1/2	OMIM:618804
23511	NUP188	HP:0000519	Developmental cataract	2/2	OMIM:618804
23511	NUP188	HP:0001838	Rocker bottom foot	2/2	OMIM:618804
23511	NUP188	HP:0011236	Angulated antihelix	2/2	OMIM:618804
23511	NUP188	HP:0011230	Laterally extended eyebrow	2/2	OMIM:618804
23511	NUP188	HP:0000568	Microphthalmia	2/2	OMIM:618804
23512	SUZ12	HP:0001176	Large hands	-	OMIM:618786
23512	SUZ12	HP:0001176	Large hands	HP:0040282	ORPHA:3447
23512	SUZ12	HP:0001290	Generalized hypotonia	6/11	OMIM:618786
23512	SUZ12	HP:0001276	Hypertonia	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0001274	Agenesis of corpus callosum	1/8	OMIM:618786
23512	SUZ12	HP:0001249	Intellectual disability	7/12	OMIM:618786
23512	SUZ12	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0001263	Global developmental delay	10/13	OMIM:618786
23512	SUZ12	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0001257	Spasticity	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:3447
23512	SUZ12	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:3447
23512	SUZ12	HP:0000098	Tall stature	-	OMIM:618786
23512	SUZ12	HP:0000098	Tall stature	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0001387	Joint stiffness	HP:0040282	ORPHA:3447
23512	SUZ12	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:3447
23512	SUZ12	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:3447
23512	SUZ12	HP:0000028	Cryptorchidism	4/8	OMIM:618786
23512	SUZ12	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:3447
23512	SUZ12	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:3447
23512	SUZ12	HP:0000006	Autosomal dominant inheritance	-	OMIM:618786
23512	SUZ12	HP:0002650	Scoliosis	HP:0040283	ORPHA:3447
23512	SUZ12	HP:0002002	Deep philtrum	HP:0040282	ORPHA:3447
23512	SUZ12	HP:0002126	Polymicrogyria	1/13	OMIM:618786
23512	SUZ12	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:3447
23512	SUZ12	HP:0002213	Fine hair	HP:0040282	ORPHA:3447
23512	SUZ12	HP:0003517	Birth length greater than 97th percentile	3/13	OMIM:618786
23512	SUZ12	HP:0011304	Broad thumb	HP:0040282	ORPHA:3447
23512	SUZ12	HP:0005616	Accelerated skeletal maturation	6/8	OMIM:618786
23512	SUZ12	HP:0005616	Accelerated skeletal maturation	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:3447
23512	SUZ12	HP:0012811	Wide nasal ridge	-	OMIM:618786
23512	SUZ12	HP:0000998	Hypertrichosis	3/11	OMIM:618786
23512	SUZ12	HP:0000995	Melanocytic nevus	2/13	OMIM:618786
23512	SUZ12	HP:0010300	Abnormally low-pitched voice	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0000278	Retrognathia	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0000256	Macrocephaly	8/12	OMIM:618786
23512	SUZ12	HP:0000256	Macrocephaly	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0030084	Clinodactyly	-	OMIM:618786
23512	SUZ12	HP:0001582	Redundant skin	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0001548	Overgrowth	12/13	OMIM:618786
23512	SUZ12	HP:0001545	Anteriorly placed anus	1/13	OMIM:618786
23512	SUZ12	HP:0001537	Umbilical hernia	4/11	OMIM:618786
23512	SUZ12	HP:0012385	Camptodactyly	-	OMIM:618786
23512	SUZ12	HP:0001609	Hoarse voice	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0000343	Long philtrum	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0000337	Broad forehead	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0000336	Prominent supraorbital ridges	5/13	OMIM:618786
23512	SUZ12	HP:0000347	Micrognathia	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0000316	Hypertelorism	10/13	OMIM:618786
23512	SUZ12	HP:0000316	Hypertelorism	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0000311	Round face	8/13	OMIM:618786
23512	SUZ12	HP:0000311	Round face	HP:0040282	ORPHA:3447
23512	SUZ12	HP:0000303	Mandibular prognathia	2/13	OMIM:618786
23512	SUZ12	HP:0000400	Macrotia	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0000494	Downslanted palpebral fissures	6/13	OMIM:618786
23512	SUZ12	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:3447
23512	SUZ12	HP:0001769	Broad foot	HP:0040282	ORPHA:3447
23512	SUZ12	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:3447
23512	SUZ12	HP:0001761	Pes cavus	HP:0040283	ORPHA:3447
23512	SUZ12	HP:0001852	Sandal gap	HP:0040283	ORPHA:3447
23512	SUZ12	HP:0001833	Long foot	-	OMIM:618786
23512	SUZ12	HP:0001800	Hypoplastic toenails	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0001816	Thin nail	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0001814	Deep-set nails	HP:0040281	ORPHA:3447
23512	SUZ12	HP:0011220	Prominent forehead	7/13	OMIM:618786
23514	SPIDR	HP:0001166	Arachnodactyly	HP:0040284	ORPHA:243
23514	SPIDR	HP:0009888	Abnormality of secondary sexual hair	HP:0040281	ORPHA:243
23514	SPIDR	HP:0001251	Ataxia	HP:0040284	ORPHA:243
23514	SPIDR	HP:0008724	Hypoplasia of the ovary	3/3	OMIM:619665
23514	SPIDR	HP:0008684	Aplasia/hypoplasia of the uterus	HP:0040282	ORPHA:243
23514	SPIDR	HP:0000062	Ambiguous genitalia	-	ORPHA:243
23514	SPIDR	HP:0000013	Hypoplasia of the uterus	3/3	OMIM:619665
23514	SPIDR	HP:0000007	Autosomal recessive inheritance	-	OMIM:619665
23514	SPIDR	HP:0031103	Decreased circulating antimullerian hormone circulation	3/3	OMIM:619665
23514	SPIDR	HP:0000144	Decreased fertility	HP:0040281	ORPHA:243
23514	SPIDR	HP:0000133	Gonadal dysgenesis	HP:0040280	ORPHA:243
23514	SPIDR	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:243
23514	SPIDR	HP:0002750	Delayed skeletal maturation	3/3	OMIM:619665
23514	SPIDR	HP:0010464	Streak ovary	HP:0040282	ORPHA:243
23514	SPIDR	HP:0008232	Elevated circulating follicle stimulating hormone level	3/3	OMIM:619665
23514	SPIDR	HP:0008209	Premature ovarian insufficiency	HP:0040280	ORPHA:243
23514	SPIDR	HP:0008209	Premature ovarian insufficiency	3/3	OMIM:619665
23514	SPIDR	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:243
23514	SPIDR	HP:0008214	Decreased serum estradiol	3/3	OMIM:619665
23514	SPIDR	HP:0002225	Sparse pubic hair	HP:0040282	ORPHA:243
23514	SPIDR	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:243
23514	SPIDR	HP:0011969	Elevated circulating luteinizing hormone level	3/3	OMIM:619665
23514	SPIDR	HP:0003621	Juvenile onset	2/2	OMIM:619665
23514	SPIDR	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040283	ORPHA:243
23514	SPIDR	HP:0004322	Short stature	HP:0040283	ORPHA:243
23514	SPIDR	HP:0005625	Osteoporosis of vertebrae	HP:0040282	ORPHA:243
23514	SPIDR	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:243
23514	SPIDR	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:243
23514	SPIDR	HP:0000786	Primary amenorrhea	3/3	OMIM:619665
23514	SPIDR	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:243
23514	SPIDR	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:243
23514	SPIDR	HP:0000823	Delayed puberty	HP:0040281	ORPHA:243
23514	SPIDR	HP:0000823	Delayed puberty	3/3	OMIM:619665
23514	SPIDR	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:243
23514	SPIDR	HP:0000938	Osteopenia	HP:0040282	ORPHA:243
23514	SPIDR	HP:0000252	Microcephaly	HP:0040284	ORPHA:243
23514	SPIDR	HP:0000365	Hearing impairment	HP:0040283	ORPHA:243
23516	SLC39A14	HP:0002483	Bulbar signs	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0002465	Poor speech	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0002451	Limb dystonia	3/9	OMIM:617013
23516	SLC39A14	HP:0007325	Generalized dystonia	6/9	OMIM:617013
23516	SLC39A14	HP:0009926	Epiphora	HP:0040284	OMIM:144755
23516	SLC39A14	HP:0001272	Cerebellar atrophy	3/10	OMIM:617013
23516	SLC39A14	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0001288	Gait disturbance	3/9	OMIM:617013
23516	SLC39A14	HP:0001252	Hypotonia	1/1	OMIM:617013
23516	SLC39A14	HP:0001249	Intellectual disability	1/9	OMIM:617013
23516	SLC39A14	HP:0001249	Intellectual disability	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0001263	Global developmental delay	2/10	OMIM:617013
23516	SLC39A14	HP:0001263	Global developmental delay	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0001257	Spasticity	3/10	OMIM:617013
23516	SLC39A14	HP:0001257	Spasticity	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0002540	Inability to walk	1/1	OMIM:617013
23516	SLC39A14	HP:0002505	Loss of ambulation	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0012048	Oromandibular dystonia	3/9	OMIM:617013
23516	SLC39A14	HP:0012048	Oromandibular dystonia	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0001348	Brisk reflexes	1/9	OMIM:617013
23516	SLC39A14	HP:0001347	Hyperreflexia	4/18	OMIM:617013
23516	SLC39A14	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0001332	Dystonia	10/10	OMIM:617013
23516	SLC39A14	HP:0001332	Dystonia	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0001344	Absent speech	1/9	OMIM:617013
23516	SLC39A14	HP:0000007	Autosomal recessive inheritance	-	OMIM:617013
23516	SLC39A14	HP:0001337	Tremor	1/9	OMIM:617013
23516	SLC39A14	HP:0001337	Tremor	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0000006	Autosomal dominant inheritance	-	OMIM:144755
23516	SLC39A14	HP:0002650	Scoliosis	3/9	OMIM:617013
23516	SLC39A14	HP:0002650	Scoliosis	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0001300	Parkinsonism	-	OMIM:617013
23516	SLC39A14	HP:0001300	Parkinsonism	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0007663	Reduced visual acuity	-	OMIM:144755
23516	SLC39A14	HP:0008936	Axial hypotonia	2/9	OMIM:617013
23516	SLC39A14	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0002067	Bradykinesia	2/9	OMIM:617013
23516	SLC39A14	HP:0002067	Bradykinesia	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0002059	Cerebral atrophy	3/10	OMIM:617013
23516	SLC39A14	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0003487	Babinski sign	1/9	OMIM:617013
23516	SLC39A14	HP:0003487	Babinski sign	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0002179	Opisthotonus	1/9	OMIM:617013
23516	SLC39A14	HP:0003593	Infantile onset	1/1	OMIM:617013
23516	SLC39A14	HP:0032097	Hypermanganesemia	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0032097	Hypermanganesemia	3/10	OMIM:617013
23516	SLC39A14	HP:0010628	Facial palsy	9/13	OMIM:144755
23516	SLC39A14	HP:0007099	Chiari type I malformation	1/13	OMIM:144755
23516	SLC39A14	HP:0002375	Hypokinesia	1/9	OMIM:617013
23516	SLC39A14	HP:0002376	Developmental regression	1/10	OMIM:617013
23516	SLC39A14	HP:0002376	Developmental regression	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0002344	Progressive neurologic deterioration	1/9	OMIM:617013
23516	SLC39A14	HP:0003676	Progressive	-	OMIM:617013
23516	SLC39A14	HP:0002315	Headache	5/10	OMIM:144755
23516	SLC39A14	HP:0200026	Ocular pain	HP:0040284	OMIM:144755
23516	SLC39A14	HP:0100660	Dyskinesia	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0002312	Clumsiness	1/9	OMIM:617013
23516	SLC39A14	HP:0003621	Juvenile onset	-	OMIM:144755
23516	SLC39A14	HP:0006895	Lower limb hypertonia	1/9	OMIM:617013
23516	SLC39A14	HP:0000648	Optic atrophy	-	OMIM:144755
23516	SLC39A14	HP:0000737	Irritability	3/9	OMIM:617013
23516	SLC39A14	HP:0011462	Young adult onset	-	OMIM:144755
23516	SLC39A14	HP:0011448	Ankle clonus	3/9	OMIM:617013
23516	SLC39A14	HP:0011448	Ankle clonus	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0003121	Limb joint contracture	3/9	OMIM:617013
23516	SLC39A14	HP:0005746	Osteosclerosis of the base of the skull	13/13	OMIM:144755
23516	SLC39A14	HP:0004409	Hyposmia	-	OMIM:144755
23516	SLC39A14	HP:0004490	Calvarial hyperostosis	13/13	OMIM:144755
23516	SLC39A14	HP:0003236	Elevated circulating creatine kinase concentration	1/9	OMIM:617013
23516	SLC39A14	HP:0005890	Hyperostosis cranialis interna	-	OMIM:144755
23516	SLC39A14	HP:0030890	Hyperintensity of cerebral white matter on MRI	10/10	OMIM:617013
23516	SLC39A14	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0000975	Hyperhidrosis	1/9	OMIM:617013
23516	SLC39A14	HP:0000265	Mastoiditis	HP:0040284	OMIM:144755
23516	SLC39A14	HP:0000256	Macrocephaly	1/9	OMIM:617013
23516	SLC39A14	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0000252	Microcephaly	1/9	OMIM:617013
23516	SLC39A14	HP:0030051	Tip-toe gait	4/9	OMIM:617013
23516	SLC39A14	HP:0005216	Impaired mastication	1/1	OMIM:617013
23516	SLC39A14	HP:0000360	Tinnitus	-	OMIM:144755
23516	SLC39A14	HP:0000338	Hypomimic face	1/9	OMIM:617013
23516	SLC39A14	HP:0000338	Hypomimic face	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0007906	Ocular hypertension	1/13	OMIM:144755
23516	SLC39A14	HP:0000407	Sensorineural hearing impairment	8/8	OMIM:144755
23516	SLC39A14	HP:0000458	Anosmia	6/13	OMIM:144755
23516	SLC39A14	HP:0001771	Achilles tendon contracture	1/9	OMIM:617013
23516	SLC39A14	HP:0001751	Abnormal vestibular function	10/13	OMIM:144755
23516	SLC39A14	HP:0012407	Scissor gait	3/9	OMIM:617013
23516	SLC39A14	HP:0012407	Scissor gait	HP:0040282	ORPHA:521406
23516	SLC39A14	HP:0005484	Secondary microcephaly	3/9	OMIM:617013
23516	SLC39A14	HP:0000520	Proptosis	HP:0040284	OMIM:144755
23522	KAT6B	HP:0001156	Brachydactyly	-	OMIM:606170
23522	KAT6B	HP:0010864	Intellectual disability, severe	19/19	OMIM:603736
23522	KAT6B	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
23522	KAT6B	HP:0001293	Cranial nerve compression	-	OMIM:131300
23522	KAT6B	HP:0001290	Generalized hypotonia	-	OMIM:606170
23522	KAT6B	HP:0001274	Agenesis of corpus callosum	-	OMIM:606170
23522	KAT6B	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:85201
23522	KAT6B	HP:0001270	Motor delay	-	OMIM:603736
23522	KAT6B	HP:0001250	Seizure	HP:0040282	ORPHA:85201
23522	KAT6B	HP:0001250	Seizure	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0001252	Hypotonia	-	OMIM:606170
23522	KAT6B	HP:0001252	Hypotonia	16/19	OMIM:603736
23522	KAT6B	HP:0001252	Hypotonia	HP:0040281	ORPHA:3047
23522	KAT6B	HP:0001252	Hypotonia	2/7	OMIM:615777
23522	KAT6B	HP:0001249	Intellectual disability	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3047
23522	KAT6B	HP:0001249	Intellectual disability	5/7	OMIM:615777
23522	KAT6B	HP:0001263	Global developmental delay	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0001263	Global developmental delay	16/16	OMIM:606170
23522	KAT6B	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3047
23522	KAT6B	HP:0001263	Global developmental delay	-	OMIM:615777
23522	KAT6B	HP:0008683	Enlarged labia minora	-	OMIM:606170
23522	KAT6B	HP:0008665	Clitoral hypertrophy	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0008665	Clitoral hypertrophy	5/6	OMIM:606170
23522	KAT6B	HP:0002515	Waddling gait	54/102	OMIM:131300
23522	KAT6B	HP:0000066	Labial hypoplasia	6/6	OMIM:606170
23522	KAT6B	HP:0001374	Congenital hip dislocation	-	OMIM:606170
23522	KAT6B	HP:0000046	Small scrotum	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0000046	Small scrotum	12/12	OMIM:606170
23522	KAT6B	HP:0000054	Micropenis	-	OMIM:606170
23522	KAT6B	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0001382	Joint hypermobility	-	OMIM:615777
23522	KAT6B	HP:0000047	Hypospadias	4/10	OMIM:603736
23522	KAT6B	HP:0002694	Sclerosis of skull base	-	OMIM:131300
23522	KAT6B	HP:0000028	Cryptorchidism	12/12	OMIM:606170
23522	KAT6B	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0000028	Cryptorchidism	8/9	OMIM:603736
23522	KAT6B	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:3047
23522	KAT6B	HP:0008897	Postnatal growth retardation	-	OMIM:615777
23522	KAT6B	HP:0008823	Inferior pubic ramus hypoplasia	-	OMIM:606170
23522	KAT6B	HP:0033725	Thin corpus callosum	15/19	OMIM:606170
23522	KAT6B	HP:0001328	Specific learning disability	HP:0040281	ORPHA:3047
23522	KAT6B	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
23522	KAT6B	HP:0001324	Muscle weakness	40/96	OMIM:131300
23522	KAT6B	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
23522	KAT6B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
23522	KAT6B	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0000003	Multicystic kidney dysplasia	6/19	OMIM:606170
23522	KAT6B	HP:0000006	Autosomal dominant inheritance	-	OMIM:606170
23522	KAT6B	HP:0000006	Autosomal dominant inheritance	-	OMIM:603736
23522	KAT6B	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
23522	KAT6B	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
23522	KAT6B	HP:0001302	Pachygyria	3/19	OMIM:606170
23522	KAT6B	HP:0002650	Scoliosis	5/19	OMIM:606170
23522	KAT6B	HP:0002650	Scoliosis	12/14	OMIM:131300
23522	KAT6B	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
23522	KAT6B	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
23522	KAT6B	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
23522	KAT6B	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
23522	KAT6B	HP:0000193	Bifid uvula	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0000176	Submucous cleft hard palate	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0000175	Cleft palate	6/19	OMIM:603736
23522	KAT6B	HP:0000175	Cleft palate	2/7	OMIM:615777
23522	KAT6B	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0032524	Long thumb	10/19	OMIM:603736
23522	KAT6B	HP:0000126	Hydronephrosis	16/19	OMIM:606170
23522	KAT6B	HP:0000126	Hydronephrosis	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0002025	Anal stenosis	1/19	OMIM:606170
23522	KAT6B	HP:0002023	Anal atresia	1/19	OMIM:606170
23522	KAT6B	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:85201
23522	KAT6B	HP:0005990	Thyroid hypoplasia	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0002015	Dysphagia	-	OMIM:606170
23522	KAT6B	HP:0002089	Pulmonary hypoplasia	-	OMIM:606170
23522	KAT6B	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:85201
23522	KAT6B	HP:0003388	Easy fatigability	36/76	OMIM:131300
23522	KAT6B	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
23522	KAT6B	HP:0008191	Thyroid agenesis	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0008188	Thyroid dysgenesis	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0004794	Malrotation of small bowel	2/19	OMIM:606170
23522	KAT6B	HP:0002104	Apnea	HP:0040283	ORPHA:85201
23522	KAT6B	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0003593	Infantile onset	19/19	OMIM:603736
23522	KAT6B	HP:0002213	Fine hair	HP:0040282	ORPHA:85201
23522	KAT6B	HP:0002209	Sparse scalp hair	-	OMIM:606170
23522	KAT6B	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:85201
23522	KAT6B	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0009738	Abnormal antihelix morphology	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0011968	Feeding difficulties	6/19	OMIM:606170
23522	KAT6B	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:85201
23522	KAT6B	HP:0011968	Feeding difficulties	18/19	OMIM:603736
23522	KAT6B	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0003510	Severe short stature	7/7	OMIM:615777
23522	KAT6B	HP:0003510	Severe short stature	HP:0040281	ORPHA:3047
23522	KAT6B	HP:0002315	Headache	-	OMIM:131300
23522	KAT6B	HP:0004976	Knee dislocation	6/7	OMIM:615777
23522	KAT6B	HP:0100648	Neoplasm of the tongue	HP:0040283	ORPHA:3047
23522	KAT6B	HP:0009803	Short phalanx of finger	-	OMIM:606170
23522	KAT6B	HP:0009803	Short phalanx of finger	-	OMIM:615777
23522	KAT6B	HP:0007165	Periventricular heterotopia	-	OMIM:606170
23522	KAT6B	HP:0009763	Limb pain	63/92	OMIM:131300
23522	KAT6B	HP:0003621	Juvenile onset	-	OMIM:131300
23522	KAT6B	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
23522	KAT6B	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
23522	KAT6B	HP:0004279	Short palm	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
23522	KAT6B	HP:0006887	Intellectual disability, progressive	-	OMIM:606170
23522	KAT6B	HP:6001056	Out-toeing	-	OMIM:131300
23522	KAT6B	HP:0000651	Diplopia	-	OMIM:131300
23522	KAT6B	HP:0000614	Abnormal nasolacrimal system morphology	HP:0040283	ORPHA:3047
23522	KAT6B	HP:0001956	Truncal obesity	2/7	OMIM:615777
23522	KAT6B	HP:0001903	Anemia	HP:0040283	OMIM:131300
23522	KAT6B	HP:0010049	Short metacarpal	-	OMIM:615777
23522	KAT6B	HP:0000684	Delayed eruption of teeth	-	OMIM:606170
23522	KAT6B	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:85201
23522	KAT6B	HP:0000678	Dental crowding	-	OMIM:615777
23522	KAT6B	HP:0000691	Microdontia	-	OMIM:603736
23522	KAT6B	HP:0000670	Carious teeth	-	OMIM:131300
23522	KAT6B	HP:0011304	Broad thumb	2/7	OMIM:615777
23522	KAT6B	HP:0000668	Hypodontia	-	OMIM:615777
23522	KAT6B	HP:0000664	Synophrys	-	OMIM:615777
23522	KAT6B	HP:0004322	Short stature	HP:0040283	ORPHA:85201
23522	KAT6B	HP:0004396	Poor appetite	-	OMIM:131300
23522	KAT6B	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
23522	KAT6B	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
23522	KAT6B	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
23522	KAT6B	HP:0003026	Short long bone	7/7	OMIM:615777
23522	KAT6B	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
23522	KAT6B	HP:0012745	Short palpebral fissure	HP:0040281	ORPHA:3047
23522	KAT6B	HP:0000767	Pectus excavatum	2/7	OMIM:615777
23522	KAT6B	HP:0000768	Pectus carinatum	1/7	OMIM:615777
23522	KAT6B	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
23522	KAT6B	HP:0100028	Ectopic thyroid	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:85201
23522	KAT6B	HP:0000750	Delayed speech and language development	-	OMIM:615777
23522	KAT6B	HP:0011461	Fetal onset	7/7	OMIM:615777
23522	KAT6B	HP:0000774	Narrow chest	2/7	OMIM:615777
23522	KAT6B	HP:0004426	Abnormal cheek morphology	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0000926	Platyspondyly	1/7	OMIM:615777
23522	KAT6B	HP:0003175	Hypoplastic ischia	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0003175	Hypoplastic ischia	-	OMIM:606170
23522	KAT6B	HP:0003189	Long nose	HP:0040281	ORPHA:3047
23522	KAT6B	HP:0003180	Flat acetabular roof	-	OMIM:615777
23522	KAT6B	HP:0004482	Relative macrocephaly	-	OMIM:615777
23522	KAT6B	HP:0004467	Preauricular pit	-	OMIM:187500
23522	KAT6B	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
23522	KAT6B	HP:0000821	Hypothyroidism	3/19	OMIM:606170
23522	KAT6B	HP:0000821	Hypothyroidism	-	OMIM:603736
23522	KAT6B	HP:0000821	Hypothyroidism	HP:0040281	ORPHA:3047
23522	KAT6B	HP:0000823	Delayed puberty	-	OMIM:131300
23522	KAT6B	HP:0000894	Short clavicles	-	OMIM:615777
23522	KAT6B	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
23522	KAT6B	HP:0003273	Hip contracture	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0003273	Hip contracture	-	OMIM:606170
23522	KAT6B	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
23522	KAT6B	HP:0000946	Hypoplastic ilia	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0000286	Epicanthus	1/7	OMIM:615777
23522	KAT6B	HP:0000280	Coarse facial features	-	OMIM:606170
23522	KAT6B	HP:0000280	Coarse facial features	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0000280	Coarse facial features	2/7	OMIM:615777
23522	KAT6B	HP:0000278	Retrognathia	HP:0040281	ORPHA:3047
23522	KAT6B	HP:0000269	Prominent occiput	HP:0040281	ORPHA:3047
23522	KAT6B	HP:0000269	Prominent occiput	-	OMIM:603736
23522	KAT6B	HP:0006443	Patellar aplasia	18/19	OMIM:606170
23522	KAT6B	HP:0006443	Patellar aplasia	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0002827	Hip dislocation	3/7	OMIM:615777
23522	KAT6B	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0006380	Knee flexion contracture	-	OMIM:606170
23522	KAT6B	HP:0006380	Knee flexion contracture	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0000252	Microcephaly	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0000252	Microcephaly	19/19	OMIM:606170
23522	KAT6B	HP:0000252	Microcephaly	-	OMIM:603736
23522	KAT6B	HP:0000252	Microcephaly	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0000252	Microcephaly	-	OMIM:615777
23522	KAT6B	HP:0000219	Thin upper lip vermilion	-	OMIM:603736
23522	KAT6B	HP:0001545	Anteriorly placed anus	3/19	OMIM:606170
23522	KAT6B	HP:0001561	Polyhydramnios	-	OMIM:606170
23522	KAT6B	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0002857	Genu valgum	-	OMIM:131300
23522	KAT6B	HP:0001533	Slender build	-	OMIM:131300
23522	KAT6B	HP:0001508	Failure to thrive	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0030048	Colpocephaly	4/19	OMIM:606170
23522	KAT6B	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
23522	KAT6B	HP:0001510	Growth delay	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0007807	Optic nerve compression	-	OMIM:131300
23522	KAT6B	HP:0012368	Flat face	7/7	OMIM:615777
23522	KAT6B	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
23522	KAT6B	HP:0001601	Laryngomalacia	6/19	OMIM:606170
23522	KAT6B	HP:0000365	Hearing impairment	3/19	OMIM:606170
23522	KAT6B	HP:0000365	Hearing impairment	HP:0040283	ORPHA:85201
23522	KAT6B	HP:0000365	Hearing impairment	9/19	OMIM:603736
23522	KAT6B	HP:0000365	Hearing impairment	10/67	OMIM:131300
23522	KAT6B	HP:0000358	Posteriorly rotated ears	-	OMIM:603736
23522	KAT6B	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:3047
23522	KAT6B	HP:0000369	Low-set ears	HP:0040282	ORPHA:85201
23522	KAT6B	HP:0000369	Low-set ears	-	OMIM:603736
23522	KAT6B	HP:0000369	Low-set ears	HP:0040281	ORPHA:3047
23522	KAT6B	HP:0000340	Sloping forehead	HP:0040281	ORPHA:3047
23522	KAT6B	HP:0000343	Long philtrum	HP:0040282	ORPHA:85201
23522	KAT6B	HP:0000343	Long philtrum	1/7	OMIM:615777
23522	KAT6B	HP:0011001	Increased bone mineral density	-	OMIM:131300
23522	KAT6B	HP:0000337	Broad forehead	-	OMIM:187500
23522	KAT6B	HP:0002999	Patellar dislocation	-	OMIM:606170
23522	KAT6B	HP:0002999	Patellar dislocation	-	OMIM:603736
23522	KAT6B	HP:0000347	Micrognathia	-	OMIM:606170
23522	KAT6B	HP:0000347	Micrognathia	HP:0040282	ORPHA:85201
23522	KAT6B	HP:0000347	Micrognathia	-	OMIM:603736
23522	KAT6B	HP:0000347	Micrognathia	HP:0040281	ORPHA:3047
23522	KAT6B	HP:0000316	Hypertelorism	HP:0040282	ORPHA:85201
23522	KAT6B	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0000311	Round face	2/7	OMIM:615777
23522	KAT6B	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:85201
23522	KAT6B	HP:0002974	Radioulnar synostosis	HP:0040284	OMIM:606170
23522	KAT6B	HP:0001644	Dilated cardiomyopathy	-	OMIM:603736
23522	KAT6B	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0001629	Ventricular septal defect	-	OMIM:606170
23522	KAT6B	HP:0002970	Genu varum	-	OMIM:615777
23522	KAT6B	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
23522	KAT6B	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0001631	Atrial septal defect	-	OMIM:606170
23522	KAT6B	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:85201
23522	KAT6B	HP:0000303	Mandibular prognathia	-	OMIM:131300
23522	KAT6B	HP:0006695	Atrioventricular canal defect	HP:0040282	ORPHA:3047
23522	KAT6B	HP:0005280	Depressed nasal bridge	-	OMIM:603736
23522	KAT6B	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
23522	KAT6B	HP:0000494	Downslanted palpebral fissures	-	OMIM:606170
23522	KAT6B	HP:0000470	Short neck	1/7	OMIM:615777
23522	KAT6B	HP:0001769	Broad foot	HP:0040283	OMIM:615777
23522	KAT6B	HP:0001763	Pes planus	1/7	OMIM:615777
23522	KAT6B	HP:0000448	Prominent nose	-	OMIM:606170
23522	KAT6B	HP:0000448	Prominent nose	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0000448	Prominent nose	HP:0040281	ORPHA:3047
23522	KAT6B	HP:0000445	Wide nose	-	OMIM:606170
23522	KAT6B	HP:0000445	Wide nose	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0000414	Bulbous nose	-	OMIM:603736
23522	KAT6B	HP:0000414	Bulbous nose	HP:0040281	ORPHA:3047
23522	KAT6B	HP:0001762	Talipes equinovarus	18/19	OMIM:606170
23522	KAT6B	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:85201
23522	KAT6B	HP:0000431	Wide nasal bridge	9/19	OMIM:606170
23522	KAT6B	HP:0000426	Prominent nasal bridge	5/19	OMIM:606170
23522	KAT6B	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:85201
23522	KAT6B	HP:0001847	Long hallux	10/19	OMIM:603736
23522	KAT6B	HP:0001840	Metatarsus adductus	-	OMIM:615777
23522	KAT6B	HP:0000520	Proptosis	2/4	OMIM:131300
23522	KAT6B	HP:0000520	Proptosis	-	OMIM:187500
23522	KAT6B	HP:0000520	Proptosis	7/7	OMIM:615777
23522	KAT6B	HP:0000581	Blepharophimosis	-	OMIM:603736
23522	KAT6B	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:3047
23522	KAT6B	HP:0000592	Blue sclerae	2/7	OMIM:615777
23522	KAT6B	HP:0000537	Epicanthus inversus	-	OMIM:603736
23522	KAT6B	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
23522	KAT6B	HP:0012514	Lower limb pain	4/4	OMIM:131300
23524	SRRM2	HP:0001169	Broad palm	6/22	OMIM:620439
23524	SRRM2	HP:0009909	Uplifted earlobe	4/22	OMIM:620439
23524	SRRM2	HP:0002414	Spina bifida	1/22	OMIM:620439
23524	SRRM2	HP:0001256	Intellectual disability, mild	16/20	OMIM:620439
23524	SRRM2	HP:0001252	Hypotonia	4/22	OMIM:620439
23524	SRRM2	HP:0002591	Polyphagia	4/22	OMIM:620439
23524	SRRM2	HP:0001263	Global developmental delay	22/22	OMIM:620439
23524	SRRM2	HP:0000089	Renal hypoplasia	1/22	OMIM:620439
23524	SRRM2	HP:0000098	Tall stature	4/22	OMIM:620439
23524	SRRM2	HP:0000054	Micropenis	1/4	OMIM:620439
23524	SRRM2	HP:0000049	Shawl scrotum	1/14	OMIM:620439
23524	SRRM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:620439
23524	SRRM2	HP:0011822	Broad chin	6/22	OMIM:620439
23524	SRRM2	HP:0003593	Infantile onset	-	OMIM:620439
23524	SRRM2	HP:0007018	Attention deficit hyperactivity disorder	6/22	OMIM:620439
23524	SRRM2	HP:0011968	Feeding difficulties	5/22	OMIM:620439
23524	SRRM2	HP:0031936	Delayed ability to walk	8/22	OMIM:620439
23524	SRRM2	HP:0100025	Overfriendliness	8/22	OMIM:620439
23524	SRRM2	HP:0000739	Anxiety	2/22	OMIM:620439
23524	SRRM2	HP:0000750	Delayed speech and language development	16/19	OMIM:620439
23524	SRRM2	HP:0000729	Autistic behavior	9/22	OMIM:620439
23524	SRRM2	HP:0000286	Epicanthus	3/22	OMIM:620439
23524	SRRM2	HP:0000297	Facial hypotonia	5/22	OMIM:620439
23524	SRRM2	HP:0000256	Macrocephaly	2/22	OMIM:620439
23524	SRRM2	HP:0000252	Microcephaly	1/22	OMIM:620439
23524	SRRM2	HP:0000219	Thin upper lip vermilion	7/22	OMIM:620439
23524	SRRM2	HP:0001513	Obesity	7/22	OMIM:620439
23524	SRRM2	HP:0000358	Posteriorly rotated ears	4/22	OMIM:620439
23524	SRRM2	HP:0000369	Low-set ears	4/22	OMIM:620439
23524	SRRM2	HP:0000319	Smooth philtrum	6/22	OMIM:620439
23524	SRRM2	HP:0000486	Strabismus	4/22	OMIM:620439
23524	SRRM2	HP:0000490	Deeply set eye	10/22	OMIM:620439
23524	SRRM2	HP:0000470	Short neck	3/22	OMIM:620439
23524	SRRM2	HP:0000414	Bulbous nose	9/22	OMIM:620439
23524	SRRM2	HP:0000540	Hypermetropia	3/22	OMIM:620439
23529	CLCF1	HP:0001276	Hypertonia	HP:0040281	ORPHA:1545
23529	CLCF1	HP:0001250	Seizure	HP:0040283	ORPHA:1545
23529	CLCF1	HP:0025278	Cold-induced sweating	1/1	OMIM:610313
23529	CLCF1	HP:0001377	Limited elbow extension	1/1	OMIM:610313
23529	CLCF1	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:1545
23529	CLCF1	HP:0001371	Flexion contracture	HP:0040281	ORPHA:1545
23529	CLCF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:610313
23529	CLCF1	HP:0002650	Scoliosis	HP:0040281	ORPHA:1545
23529	CLCF1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:1545
23529	CLCF1	HP:0004691	2-3 toe syndactyly	1/1	OMIM:610313
23529	CLCF1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:1545
23529	CLCF1	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:1545
23529	CLCF1	HP:0002047	Malignant hyperthermia	HP:0040281	ORPHA:1545
23529	CLCF1	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1545
23529	CLCF1	HP:0100729	Large face	HP:0040281	ORPHA:1545
23529	CLCF1	HP:0011968	Feeding difficulties	1/1	OMIM:610313
23529	CLCF1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:1545
23529	CLCF1	HP:0007141	Sensorimotor neuropathy	1/1	OMIM:610313
23529	CLCF1	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:1545
23529	CLCF1	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:1545
23529	CLCF1	HP:0000293	Full cheeks	HP:0040281	ORPHA:1545
23529	CLCF1	HP:0030084	Clinodactyly	1/1	OMIM:610313
23529	CLCF1	HP:0002808	Kyphosis	HP:0040281	ORPHA:1545
23529	CLCF1	HP:0000218	High palate	1/1	OMIM:610313
23529	CLCF1	HP:0000218	High palate	HP:0040282	ORPHA:1545
23529	CLCF1	HP:0001522	Death in infancy	HP:0040281	ORPHA:1545
23529	CLCF1	HP:0002938	Lumbar hyperlordosis	1/1	OMIM:610313
23529	CLCF1	HP:0002944	Thoracolumbar scoliosis	1/1	OMIM:610313
23529	CLCF1	HP:0000343	Long philtrum	HP:0040281	ORPHA:1545
23529	CLCF1	HP:0000347	Micrognathia	HP:0040283	ORPHA:1545
23529	CLCF1	HP:0001645	Sudden cardiac death	HP:0040281	ORPHA:1545
23529	CLCF1	HP:0002967	Cubitus valgus	1/1	OMIM:610313
23529	CLCF1	HP:0030319	Weakness of facial musculature	1/1	OMIM:610313
23529	CLCF1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:1545
23529	CLCF1	HP:0000445	Wide nose	HP:0040281	ORPHA:1545
23529	CLCF1	HP:0000411	Protruding ear	1/1	OMIM:610313
23530	NNT	HP:0002445	Tetraplegia	HP:0040284	ORPHA:361
23530	NNT	HP:0001250	Seizure	-	OMIM:614736
23530	NNT	HP:0001249	Intellectual disability	HP:0040284	ORPHA:361
23530	NNT	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:361
23530	NNT	HP:0007440	Generalized hyperpigmentation	HP:0040281	ORPHA:361
23530	NNT	HP:0031076	Impaired cortisol response to insulin stimulation test	HP:0040281	ORPHA:361
23530	NNT	HP:0000098	Tall stature	HP:0040283	ORPHA:361
23530	NNT	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:361
23530	NNT	HP:0000028	Cryptorchidism	HP:0040283	OMIM:614736
23530	NNT	HP:0000027	Azoospermia	HP:0040284	ORPHA:361
23530	NNT	HP:0001325	Hypoglycemic coma	HP:0040284	ORPHA:361
23530	NNT	HP:0001325	Hypoglycemic coma	HP:0040283	OMIM:614736
23530	NNT	HP:0000010	Recurrent urinary tract infections	HP:0040284	ORPHA:361
23530	NNT	HP:0000007	Autosomal recessive inheritance	-	OMIM:614736
23530	NNT	HP:0002615	Hypotension	HP:0040281	ORPHA:361
23530	NNT	HP:0025451	Testicular adrenal rest tumor	HP:0040283	ORPHA:361
23530	NNT	HP:0000127	Renal salt wasting	HP:0040282	ORPHA:361
23530	NNT	HP:0000127	Renal salt wasting	HP:0040283	OMIM:614736
23530	NNT	HP:0031214	Decreased circulating dehydroepiandrosterone concentration	HP:0040281	ORPHA:361
23530	NNT	HP:0002719	Recurrent infections	HP:0040282	ORPHA:361
23530	NNT	HP:0002019	Constipation	HP:0040282	ORPHA:361
23530	NNT	HP:0002014	Diarrhea	HP:0040282	ORPHA:361
23530	NNT	HP:0002013	Vomiting	HP:0040282	ORPHA:361
23530	NNT	HP:0002039	Anorexia	HP:0040282	ORPHA:361
23530	NNT	HP:0008163	Decreased circulating cortisol level	HP:0040280	ORPHA:361
23530	NNT	HP:0008163	Decreased circulating cortisol level	15/15	OMIM:614736
23530	NNT	HP:0002153	Hyperkalemia	HP:0040282	ORPHA:361
23530	NNT	HP:0002153	Hyperkalemia	0/15	OMIM:614736
23530	NNT	HP:0002173	Hypoglycemic seizures	HP:0040282	ORPHA:361
23530	NNT	HP:0100618	Leydig cell neoplasia	HP:0040284	ORPHA:361
23530	NNT	HP:0012605	Hypernatriuria	HP:0040282	ORPHA:361
23530	NNT	HP:0001943	Hypoglycemia	-	OMIM:614736
23530	NNT	HP:0004319	Decreased circulating aldosterone concentration	HP:0040283	ORPHA:361
23530	NNT	HP:0012734	Ketotic hypoglycemia	HP:0040281	ORPHA:361
23530	NNT	HP:0003154	Increased circulating ACTH level	15/15	OMIM:614736
23530	NNT	HP:0000851	Congenital hypothyroidism	HP:0040284	ORPHA:361
23530	NNT	HP:0000851	Congenital hypothyroidism	HP:0040283	OMIM:614736
23530	NNT	HP:0000846	Adrenal insufficiency	HP:0040280	ORPHA:361
23530	NNT	HP:0000826	Precocious puberty	HP:0040283	ORPHA:361
23530	NNT	HP:0000826	Precocious puberty	HP:0040283	OMIM:614736
23530	NNT	HP:0040084	Abnormal circulating renin concentration	0/15	OMIM:614736
23530	NNT	HP:0040085	Abnormal circulating aldosterone concentration	0/15	OMIM:614736
23530	NNT	HP:0001508	Failure to thrive	HP:0040281	ORPHA:361
23530	NNT	HP:0001508	Failure to thrive	-	OMIM:614736
23530	NNT	HP:0011043	Abnormal circulating adrenocorticotropin concentration	HP:0040281	ORPHA:361
23530	NNT	HP:0002902	Hyponatremia	HP:0040282	ORPHA:361
23530	NNT	HP:0002902	Hyponatremia	0/15	OMIM:614736
23530	NNT	HP:0002960	Autoimmunity	-	ORPHA:361
23530	NNT	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:361
23530	NNT	HP:0012432	Chronic fatigue	HP:0040282	ORPHA:361
23530	NNT	HP:0001824	Weight loss	HP:0040282	ORPHA:361
23533	PIK3R5	HP:0001152	Saccadic smooth pursuit	HP:0040282	ORPHA:64753
23533	PIK3R5	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:64753
23533	PIK3R5	HP:0001272	Cerebellar atrophy	3/3	OMIM:615217
23533	PIK3R5	HP:0001284	Areflexia	HP:0040281	ORPHA:64753
23533	PIK3R5	HP:0001284	Areflexia	3/4	OMIM:615217
23533	PIK3R5	HP:0001251	Ataxia	HP:0040281	ORPHA:64753
23533	PIK3R5	HP:0001251	Ataxia	4/4	OMIM:615217
23533	PIK3R5	HP:0001265	Hyporeflexia	1/4	OMIM:615217
23533	PIK3R5	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:64753
23533	PIK3R5	HP:0001260	Dysarthria	4/4	OMIM:615217
23533	PIK3R5	HP:0001332	Dystonia	HP:0040283	ORPHA:64753
23533	PIK3R5	HP:0001324	Muscle weakness	3/4	OMIM:615217
23533	PIK3R5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615217
23533	PIK3R5	HP:0001310	Dysmetria	4/4	OMIM:615217
23533	PIK3R5	HP:0006254	Elevated circulating alpha-fetoprotein concentration	HP:0040282	ORPHA:64753
23533	PIK3R5	HP:0006254	Elevated circulating alpha-fetoprotein concentration	4/4	OMIM:615217
23533	PIK3R5	HP:0002015	Dysphagia	HP:0040283	ORPHA:64753
23533	PIK3R5	HP:0003477	Peripheral axonal neuropathy	3/4	OMIM:615217
23533	PIK3R5	HP:0003474	Somatic sensory dysfunction	HP:0040282	ORPHA:64753
23533	PIK3R5	HP:0002141	Gait imbalance	HP:0040282	ORPHA:64753
23533	PIK3R5	HP:0003487	Babinski sign	HP:0040283	ORPHA:64753
23533	PIK3R5	HP:0002174	Postural tremor	HP:0040283	ORPHA:64753
23533	PIK3R5	HP:0003693	Distal amyotrophy	4/4	OMIM:615217
23533	PIK3R5	HP:0002359	Frequent falls	4/4	OMIM:615217
23533	PIK3R5	HP:0003676	Progressive	-	OMIM:615217
23533	PIK3R5	HP:0002346	Head tremor	HP:0040283	ORPHA:64753
23533	PIK3R5	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:64753
23533	PIK3R5	HP:0003621	Juvenile onset	2/4	OMIM:615217
23533	PIK3R5	HP:0006855	Cerebellar vermis atrophy	HP:0040281	ORPHA:64753
23533	PIK3R5	HP:0000640	Gaze-evoked nystagmus	HP:0040282	ORPHA:64753
23533	PIK3R5	HP:0000639	Nystagmus	3/4	OMIM:615217
23533	PIK3R5	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:64753
23533	PIK3R5	HP:0000657	Oculomotor apraxia	3/4	OMIM:615217
23533	PIK3R5	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:64753
23533	PIK3R5	HP:0003124	Hypercholesterolemia	HP:0040283	ORPHA:64753
23533	PIK3R5	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:64753
23533	PIK3R5	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040283	ORPHA:64753
23533	PIK3R5	HP:0002936	Distal sensory impairment	4/4	OMIM:615217
23533	PIK3R5	HP:0000486	Strabismus	HP:0040283	ORPHA:64753
23533	PIK3R5	HP:0025708	Early young adult onset	2/4	OMIM:615217
23533	PIK3R5	HP:0000514	Slow saccadic eye movements	4/4	OMIM:615217
23534	TNPO3	HP:0002480	Hepatic encephalopathy	HP:0040283	ORPHA:186
23534	TNPO3	HP:0002460	Distal muscle weakness	24/30	OMIM:608423
23534	TNPO3	HP:0001114	Xanthelasma	HP:0040282	ORPHA:186
23534	TNPO3	HP:0003749	Pelvic girdle muscle weakness	32/32	OMIM:608423
23534	TNPO3	HP:0003736	Autophagic vacuoles	-	OMIM:608423
23534	TNPO3	HP:0001278	Orthostatic hypotension	HP:0040282	ORPHA:186
23534	TNPO3	HP:0001270	Motor delay	5/32	OMIM:608423
23534	TNPO3	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:186
23534	TNPO3	HP:0002570	Steatorrhea	HP:0040283	ORPHA:186
23534	TNPO3	HP:0003805	Rimmed vacuoles	-	OMIM:608423
23534	TNPO3	HP:0001399	Hepatic failure	HP:0040282	ORPHA:186
23534	TNPO3	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:186
23534	TNPO3	HP:0001394	Cirrhosis	HP:0040281	ORPHA:186
23534	TNPO3	HP:0000006	Autosomal dominant inheritance	-	OMIM:608423
23534	TNPO3	HP:0002613	Biliary cirrhosis	HP:0040281	ORPHA:186
23534	TNPO3	HP:0002608	Celiac disease	HP:0040283	ORPHA:186
23534	TNPO3	HP:0012115	Hepatitis	HP:0040283	ORPHA:186
23534	TNPO3	HP:0001409	Portal hypertension	HP:0040282	ORPHA:186
23534	TNPO3	HP:0001402	Hepatocellular carcinoma	HP:0040282	ORPHA:186
23534	TNPO3	HP:0002747	Respiratory insufficiency due to muscle weakness	3/32	OMIM:608423
23534	TNPO3	HP:0002015	Dysphagia	12/32	OMIM:608423
23534	TNPO3	HP:0003306	Spinal rigidity	2/32	OMIM:608423
23534	TNPO3	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040282	ORPHA:186
23534	TNPO3	HP:0002040	Esophageal varix	HP:0040283	ORPHA:186
23534	TNPO3	HP:0003458	EMG: myopathic abnormalities	-	OMIM:608423
23534	TNPO3	HP:0003496	Increased circulating IgM level	HP:0040282	ORPHA:186
23534	TNPO3	HP:0003493	Antinuclear antibody positivity	HP:0040282	ORPHA:186
23534	TNPO3	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:186
23534	TNPO3	HP:0003581	Adult onset	-	OMIM:608423
23534	TNPO3	HP:0003551	Difficulty climbing stairs	19/32	OMIM:608423
23534	TNPO3	HP:0003547	Shoulder girdle muscle weakness	32/32	OMIM:608423
23534	TNPO3	HP:0003560	Muscular dystrophy	-	OMIM:608423
23534	TNPO3	HP:0011971	Dermatographic urticaria	HP:0040281	ORPHA:186
23534	TNPO3	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:186
23534	TNPO3	HP:0003691	Scapular winging	-	OMIM:608423
23534	TNPO3	HP:0003687	Centrally nucleated skeletal muscle fibers	-	OMIM:608423
23534	TNPO3	HP:0003621	Juvenile onset	-	OMIM:608423
23534	TNPO3	HP:0009046	Difficulty running	-	OMIM:608423
23534	TNPO3	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:186
23534	TNPO3	HP:0004386	Gastrointestinal inflammation	HP:0040284	ORPHA:186
23534	TNPO3	HP:0031936	Delayed ability to walk	6/32	OMIM:608423
23534	TNPO3	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:186
23534	TNPO3	HP:0003119	Abnormal circulating lipid concentration	HP:0040282	ORPHA:186
23534	TNPO3	HP:0034291	Elevated circulating creatine concentration	20/20	OMIM:608423
23534	TNPO3	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:186
23534	TNPO3	HP:0000820	Abnormality of the thyroid gland	HP:0040282	ORPHA:186
23534	TNPO3	HP:0034392	Joint contracture	2/32	OMIM:608423
23534	TNPO3	HP:0003270	Abdominal distention	HP:0040283	ORPHA:186
23534	TNPO3	HP:0003261	Increased circulating IgA concentration	HP:0040283	ORPHA:186
23534	TNPO3	HP:0000989	Pruritus	HP:0040282	ORPHA:186
23534	TNPO3	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:186
23534	TNPO3	HP:0000952	Jaundice	HP:0040282	ORPHA:186
23534	TNPO3	HP:0000939	Osteoporosis	HP:0040283	ORPHA:186
23534	TNPO3	HP:0100297	Increased endomysial connective tissue	-	OMIM:608423
23534	TNPO3	HP:0012203	Onychomycosis	HP:0040282	ORPHA:186
23534	TNPO3	HP:0001541	Ascites	HP:0040283	ORPHA:186
23534	TNPO3	HP:0002841	Recurrent fungal infections	HP:0040282	ORPHA:186
23534	TNPO3	HP:0012378	Fatigue	HP:0040283	ORPHA:186
23534	TNPO3	HP:0011040	Abnormal intrahepatic bile duct morphology	HP:0040282	ORPHA:186
23534	TNPO3	HP:0002908	Conjugated hyperbilirubinemia	HP:0040281	ORPHA:186
23534	TNPO3	HP:0002960	Autoimmunity	HP:0040282	ORPHA:186
23534	TNPO3	HP:0030167	Antimitochondrial antibody positivity	HP:0040281	ORPHA:186
23534	TNPO3	HP:0001744	Splenomegaly	HP:0040283	ORPHA:186
23534	TNPO3	HP:0000508	Ptosis	5/32	OMIM:608423
23543	RBFOX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
23543	RBFOX2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
23543	RBFOX2	HP:0004467	Preauricular pit	-	OMIM:187500
23543	RBFOX2	HP:0000337	Broad forehead	-	OMIM:187500
23543	RBFOX2	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
23543	RBFOX2	HP:0000520	Proptosis	-	OMIM:187500
23545	ATP6V0A2	HP:0002465	Poor speech	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0025167	Fragmented elastic fibers in the dermis	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0025167	Fragmented elastic fibers in the dermis	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
23545	ATP6V0A2	HP:0001293	Cranial nerve compression	-	OMIM:131300
23545	ATP6V0A2	HP:0001290	Generalized hypotonia	-	OMIM:219200
23545	ATP6V0A2	HP:0025244	Subretinal pigment epithelium hemorrhage	HP:0040282	ORPHA:357074
23545	ATP6V0A2	HP:0001270	Motor delay	-	OMIM:219200
23545	ATP6V0A2	HP:0001270	Motor delay	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0001250	Seizure	-	OMIM:219200
23545	ATP6V0A2	HP:0001250	Seizure	HP:0040282	ORPHA:357074
23545	ATP6V0A2	HP:0001252	Hypotonia	-	OMIM:278250
23545	ATP6V0A2	HP:0001252	Hypotonia	-	OMIM:219200
23545	ATP6V0A2	HP:0001252	Hypotonia	2/7	OMIM:615777
23545	ATP6V0A2	HP:0001249	Intellectual disability	-	OMIM:278250
23545	ATP6V0A2	HP:0001249	Intellectual disability	4/13	OMIM:219200
23545	ATP6V0A2	HP:0001249	Intellectual disability	5/7	OMIM:615777
23545	ATP6V0A2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0001263	Global developmental delay	-	OMIM:615777
23545	ATP6V0A2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0001257	Spasticity	HP:0040282	ORPHA:357074
23545	ATP6V0A2	HP:0025201	Abnormal circulating apolipoprotein concentration	HP:0040282	ORPHA:357074
23545	ATP6V0A2	HP:0006114	Multiple palmar creases	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers	HP:0040280	ORPHA:2834
23545	ATP6V0A2	HP:0007414	Neonatal wrinkled skin of hands and feet	-	OMIM:278250
23545	ATP6V0A2	HP:0100874	Thick hair	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0007392	Excessive wrinkled skin	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0007392	Excessive wrinkled skin	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0007392	Excessive wrinkled skin	13/13	OMIM:219200
23545	ATP6V0A2	HP:0010989	Abnormality of the intrinsic pathway	HP:0040283	ORPHA:2834
23545	ATP6V0A2	HP:0010989	Abnormality of the intrinsic pathway	HP:0040283	ORPHA:357074
23545	ATP6V0A2	HP:0002515	Waddling gait	54/102	OMIM:131300
23545	ATP6V0A2	HP:0001374	Congenital hip dislocation	-	OMIM:219200
23545	ATP6V0A2	HP:0001374	Congenital hip dislocation	HP:0040282	ORPHA:357074
23545	ATP6V0A2	HP:0001374	Congenital hip dislocation	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0001374	Congenital hip dislocation	1/1	OMIM:278250
23545	ATP6V0A2	HP:0001382	Joint hypermobility	-	OMIM:278250
23545	ATP6V0A2	HP:0001382	Joint hypermobility	-	OMIM:615777
23545	ATP6V0A2	HP:0001382	Joint hypermobility	11/12	OMIM:219200
23545	ATP6V0A2	HP:0000023	Inguinal hernia	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0000023	Inguinal hernia	-	OMIM:278250
23545	ATP6V0A2	HP:0000023	Inguinal hernia	-	OMIM:219200
23545	ATP6V0A2	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:357074
23545	ATP6V0A2	HP:0001350	Slurred speech	HP:0040282	ORPHA:2834
23545	ATP6V0A2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
23545	ATP6V0A2	HP:0000028	Cryptorchidism	-	OMIM:278250
23545	ATP6V0A2	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
23545	ATP6V0A2	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0007552	Abnormal subcutaneous fat tissue distribution	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0008872	Feeding difficulties in infancy	-	OMIM:219200
23545	ATP6V0A2	HP:0007517	Palmoplantar cutis laxa	-	OMIM:278250
23545	ATP6V0A2	HP:0006191	Deep palmar crease	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0006191	Deep palmar crease	-	OMIM:278250
23545	ATP6V0A2	HP:0007457	Prominent veins on trunk	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0007457	Prominent veins on trunk	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
23545	ATP6V0A2	HP:0001324	Muscle weakness	40/96	OMIM:131300
23545	ATP6V0A2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
23545	ATP6V0A2	HP:0001339	Lissencephaly	HP:0040282	ORPHA:357074
23545	ATP6V0A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
23545	ATP6V0A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:278250
23545	ATP6V0A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:219200
23545	ATP6V0A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
23545	ATP6V0A2	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:2834
23545	ATP6V0A2	HP:0001305	Dandy-Walker malformation	-	OMIM:219200
23545	ATP6V0A2	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:357074
23545	ATP6V0A2	HP:0001302	Pachygyria	-	OMIM:219200
23545	ATP6V0A2	HP:0001302	Pachygyria	HP:0040282	ORPHA:357074
23545	ATP6V0A2	HP:0001320	Cerebellar vermis hypoplasia	HP:0040282	ORPHA:2834
23545	ATP6V0A2	HP:0002650	Scoliosis	-	OMIM:278250
23545	ATP6V0A2	HP:0002650	Scoliosis	-	OMIM:219200
23545	ATP6V0A2	HP:0002650	Scoliosis	12/14	OMIM:131300
23545	ATP6V0A2	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:357074
23545	ATP6V0A2	HP:0002645	Wormian bones	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0002645	Wormian bones	-	OMIM:278250
23545	ATP6V0A2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
23545	ATP6V0A2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
23545	ATP6V0A2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
23545	ATP6V0A2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
23545	ATP6V0A2	HP:0000160	Narrow mouth	-	OMIM:219200
23545	ATP6V0A2	HP:0000175	Cleft palate	2/7	OMIM:615777
23545	ATP6V0A2	HP:0001476	Delayed closure of the anterior fontanelle	HP:0040280	ORPHA:357074
23545	ATP6V0A2	HP:0001476	Delayed closure of the anterior fontanelle	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0001476	Delayed closure of the anterior fontanelle	1/1	OMIM:278250
23545	ATP6V0A2	HP:0008947	Floppy infant	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0008947	Floppy infant	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0002761	Generalized joint hypermobility	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0002761	Generalized joint hypermobility	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0002751	Kyphoscoliosis	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0005989	Redundant neck skin	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0002007	Frontal bossing	-	OMIM:219200
23545	ATP6V0A2	HP:0011800	Midface retrusion	-	OMIM:219200
23545	ATP6V0A2	HP:0002097	Emphysema	-	ORPHA:357074
23545	ATP6V0A2	HP:0002097	Emphysema	-	ORPHA:2834
23545	ATP6V0A2	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:2834
23545	ATP6V0A2	HP:0003388	Easy fatigability	36/76	OMIM:131300
23545	ATP6V0A2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
23545	ATP6V0A2	HP:0008113	Multiple plantar creases	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0002133	Status epilepticus	HP:0040282	ORPHA:2834
23545	ATP6V0A2	HP:0002126	Polymicrogyria	-	OMIM:219200
23545	ATP6V0A2	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:357074
23545	ATP6V0A2	HP:0002187	Intellectual disability, profound	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0003577	Congenital onset	1/1	OMIM:278250
23545	ATP6V0A2	HP:0002208	Coarse hair	-	OMIM:219200
23545	ATP6V0A2	HP:0002208	Coarse hair	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0200141	Small, conical teeth	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0010719	Abnormality of hair texture	-	OMIM:219200
23545	ATP6V0A2	HP:0002299	Brittle hair	-	OMIM:219200
23545	ATP6V0A2	HP:0011995	Atrial septal dilatation	HP:0040282	ORPHA:2834
23545	ATP6V0A2	HP:0011995	Atrial septal dilatation	-	OMIM:278250
23545	ATP6V0A2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0003510	Severe short stature	7/7	OMIM:615777
23545	ATP6V0A2	HP:0003691	Scapular winging	-	OMIM:278250
23545	ATP6V0A2	HP:0002361	Psychomotor deterioration	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0002315	Headache	-	OMIM:131300
23545	ATP6V0A2	HP:0004976	Knee dislocation	6/7	OMIM:615777
23545	ATP6V0A2	HP:0004993	Slender long bones with narrow diaphyses	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0010838	High nonceruloplasmin-bound serum copper	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0009803	Short phalanx of finger	-	OMIM:615777
23545	ATP6V0A2	HP:0009763	Limb pain	63/92	OMIM:131300
23545	ATP6V0A2	HP:0003621	Juvenile onset	-	OMIM:131300
23545	ATP6V0A2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
23545	ATP6V0A2	HP:0006891	Thick cerebral cortex	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0006891	Thick cerebral cortex	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
23545	ATP6V0A2	HP:6001056	Out-toeing	-	OMIM:131300
23545	ATP6V0A2	HP:0000651	Diplopia	-	OMIM:131300
23545	ATP6V0A2	HP:0001956	Truncal obesity	2/7	OMIM:615777
23545	ATP6V0A2	HP:0001903	Anemia	HP:0040283	OMIM:131300
23545	ATP6V0A2	HP:0010049	Short metacarpal	-	OMIM:615777
23545	ATP6V0A2	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0000684	Delayed eruption of teeth	-	OMIM:278250
23545	ATP6V0A2	HP:0000678	Dental crowding	-	OMIM:615777
23545	ATP6V0A2	HP:0000691	Microdontia	-	OMIM:278250
23545	ATP6V0A2	HP:0009004	Hypoplasia of the musculature	-	OMIM:278250
23545	ATP6V0A2	HP:0000670	Carious teeth	-	OMIM:131300
23545	ATP6V0A2	HP:0000670	Carious teeth	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0000670	Carious teeth	-	OMIM:278250
23545	ATP6V0A2	HP:0000670	Carious teeth	-	OMIM:219200
23545	ATP6V0A2	HP:0000670	Carious teeth	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0011304	Broad thumb	2/7	OMIM:615777
23545	ATP6V0A2	HP:0000668	Hypodontia	-	OMIM:615777
23545	ATP6V0A2	HP:0000664	Synophrys	-	OMIM:615777
23545	ATP6V0A2	HP:0004322	Short stature	-	OMIM:278250
23545	ATP6V0A2	HP:0004322	Short stature	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0004322	Short stature	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0004396	Poor appetite	-	OMIM:131300
23545	ATP6V0A2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
23545	ATP6V0A2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
23545	ATP6V0A2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
23545	ATP6V0A2	HP:0003026	Short long bone	7/7	OMIM:615777
23545	ATP6V0A2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
23545	ATP6V0A2	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0000767	Pectus excavatum	-	OMIM:278250
23545	ATP6V0A2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
23545	ATP6V0A2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
23545	ATP6V0A2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
23545	ATP6V0A2	HP:0000750	Delayed speech and language development	-	OMIM:278250
23545	ATP6V0A2	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0000750	Delayed speech and language development	-	OMIM:615777
23545	ATP6V0A2	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0000726	Dementia	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0011461	Fetal onset	7/7	OMIM:615777
23545	ATP6V0A2	HP:0009125	Lipodystrophy	-	OMIM:219200
23545	ATP6V0A2	HP:0009125	Lipodystrophy	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0009125	Lipodystrophy	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0000774	Narrow chest	2/7	OMIM:615777
23545	ATP6V0A2	HP:0003100	Slender long bone	-	OMIM:278250
23545	ATP6V0A2	HP:0004426	Abnormal cheek morphology	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0030799	Scaphocephaly	1/1	OMIM:278250
23545	ATP6V0A2	HP:0003199	Decreased muscle mass	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0003199	Decreased muscle mass	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0003196	Short nose	-	OMIM:219200
23545	ATP6V0A2	HP:0003196	Short nose	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0000926	Platyspondyly	1/7	OMIM:615777
23545	ATP6V0A2	HP:0003180	Flat acetabular roof	-	OMIM:615777
23545	ATP6V0A2	HP:0004482	Relative macrocephaly	-	OMIM:615777
23545	ATP6V0A2	HP:0003160	Abnormal isoelectric focusing of serum transferrin	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0003160	Abnormal isoelectric focusing of serum transferrin	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0003160	Abnormal isoelectric focusing of serum transferrin	-	OMIM:278250
23545	ATP6V0A2	HP:0003160	Abnormal isoelectric focusing of serum transferrin	-	OMIM:219200
23545	ATP6V0A2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
23545	ATP6V0A2	HP:0000823	Delayed puberty	-	OMIM:131300
23545	ATP6V0A2	HP:0000894	Short clavicles	-	OMIM:615777
23545	ATP6V0A2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
23545	ATP6V0A2	HP:0000973	Cutis laxa	-	OMIM:219200
23545	ATP6V0A2	HP:0000973	Cutis laxa	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0000973	Cutis laxa	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0011623	Muscular ventricular septal defect	1/1	OMIM:278250
23545	ATP6V0A2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
23545	ATP6V0A2	HP:0000938	Osteopenia	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0000938	Osteopenia	-	OMIM:278250
23545	ATP6V0A2	HP:0008070	Sparse hair	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0008070	Sparse hair	-	OMIM:278250
23545	ATP6V0A2	HP:0008070	Sparse hair	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0000286	Epicanthus	1/1	OMIM:278250
23545	ATP6V0A2	HP:0000286	Epicanthus	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0000286	Epicanthus	1/7	OMIM:615777
23545	ATP6V0A2	HP:0000280	Coarse facial features	2/7	OMIM:615777
23545	ATP6V0A2	HP:0000260	Wide anterior fontanel	-	OMIM:278250
23545	ATP6V0A2	HP:0000260	Wide anterior fontanel	12/12	OMIM:219200
23545	ATP6V0A2	HP:0000270	Delayed cranial suture closure	-	OMIM:278250
23545	ATP6V0A2	HP:0000272	Malar flattening	-	OMIM:219200
23545	ATP6V0A2	HP:0000272	Malar flattening	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0002812	Coxa vara	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0002812	Coxa vara	-	OMIM:278250
23545	ATP6V0A2	HP:0002827	Hip dislocation	3/7	OMIM:615777
23545	ATP6V0A2	HP:0002808	Kyphosis	-	OMIM:278250
23545	ATP6V0A2	HP:0000253	Progressive microcephaly	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0000253	Progressive microcephaly	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0000253	Progressive microcephaly	-	OMIM:278250
23545	ATP6V0A2	HP:0000252	Microcephaly	-	OMIM:278250
23545	ATP6V0A2	HP:0000252	Microcephaly	-	OMIM:219200
23545	ATP6V0A2	HP:0000252	Microcephaly	-	OMIM:615777
23545	ATP6V0A2	HP:0001582	Redundant skin	-	OMIM:219200
23545	ATP6V0A2	HP:0001582	Redundant skin	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0001582	Redundant skin	1/1	OMIM:278250
23545	ATP6V0A2	HP:0000218	High palate	-	OMIM:278250
23545	ATP6V0A2	HP:0000218	High palate	-	OMIM:219200
23545	ATP6V0A2	HP:0000218	High palate	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0000218	High palate	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0002857	Genu valgum	-	OMIM:131300
23545	ATP6V0A2	HP:0001537	Umbilical hernia	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0001537	Umbilical hernia	1/1	OMIM:278250
23545	ATP6V0A2	HP:0001533	Slender build	-	OMIM:131300
23545	ATP6V0A2	HP:0001508	Failure to thrive	-	OMIM:278250
23545	ATP6V0A2	HP:0001508	Failure to thrive	-	OMIM:219200
23545	ATP6V0A2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0001511	Intrauterine growth retardation	1/1	OMIM:278250
23545	ATP6V0A2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
23545	ATP6V0A2	HP:0001511	Intrauterine growth retardation	-	OMIM:219200
23545	ATP6V0A2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0007807	Optic nerve compression	-	OMIM:131300
23545	ATP6V0A2	HP:0012368	Flat face	7/7	OMIM:615777
23545	ATP6V0A2	HP:0012368	Flat face	-	OMIM:219200
23545	ATP6V0A2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
23545	ATP6V0A2	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0001611	Hypernasal speech	-	OMIM:278250
23545	ATP6V0A2	HP:0000365	Hearing impairment	10/67	OMIM:131300
23545	ATP6V0A2	HP:0011003	High myopia	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0011003	High myopia	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0000369	Low-set ears	1/1	OMIM:278250
23545	ATP6V0A2	HP:0000369	Low-set ears	-	OMIM:219200
23545	ATP6V0A2	HP:0000369	Low-set ears	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0000369	Low-set ears	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0000343	Long philtrum	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0000343	Long philtrum	1/1	OMIM:278250
23545	ATP6V0A2	HP:0000343	Long philtrum	1/7	OMIM:615777
23545	ATP6V0A2	HP:0000343	Long philtrum	-	OMIM:219200
23545	ATP6V0A2	HP:0000343	Long philtrum	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0011001	Increased bone mineral density	-	OMIM:131300
23545	ATP6V0A2	HP:0000319	Smooth philtrum	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0000319	Smooth philtrum	-	OMIM:278250
23545	ATP6V0A2	HP:0000319	Smooth philtrum	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0000316	Hypertelorism	1/1	OMIM:278250
23545	ATP6V0A2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0000311	Round face	2/7	OMIM:615777
23545	ATP6V0A2	HP:0002970	Genu varum	-	OMIM:615777
23545	ATP6V0A2	HP:0000308	Microretrognathia	1/1	OMIM:278250
23545	ATP6V0A2	HP:0000303	Mandibular prognathia	-	OMIM:131300
23545	ATP6V0A2	HP:0005328	Progeroid facial appearance	1/1	OMIM:278250
23545	ATP6V0A2	HP:0005272	Prominent nasolabial fold	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0005272	Prominent nasolabial fold	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
23545	ATP6V0A2	HP:0000486	Strabismus	-	OMIM:219200
23545	ATP6V0A2	HP:0000486	Strabismus	HP:0040282	ORPHA:357074
23545	ATP6V0A2	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0000494	Downslanted palpebral fissures	-	OMIM:278250
23545	ATP6V0A2	HP:0000494	Downslanted palpebral fissures	-	OMIM:219200
23545	ATP6V0A2	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0000463	Anteverted nares	-	OMIM:219200
23545	ATP6V0A2	HP:0000463	Anteverted nares	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0000455	Broad nasal tip	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0000455	Broad nasal tip	HP:0040281	ORPHA:357074
23545	ATP6V0A2	HP:0001788	Premature rupture of membranes	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0001788	Premature rupture of membranes	-	OMIM:278250
23545	ATP6V0A2	HP:0000470	Short neck	1/7	OMIM:615777
23545	ATP6V0A2	HP:0001799	Short nail	-	OMIM:278250
23545	ATP6V0A2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
23545	ATP6V0A2	HP:0001763	Pes planus	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0001763	Pes planus	1/1	OMIM:278250
23545	ATP6V0A2	HP:0001763	Pes planus	1/7	OMIM:615777
23545	ATP6V0A2	HP:0001763	Pes planus	-	OMIM:219200
23545	ATP6V0A2	HP:0001762	Talipes equinovarus	-	OMIM:278250
23545	ATP6V0A2	HP:0000431	Wide nasal bridge	-	OMIM:278250
23545	ATP6V0A2	HP:0005425	Recurrent sinopulmonary infections	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0001840	Metatarsus adductus	-	OMIM:615777
23545	ATP6V0A2	HP:0000520	Proptosis	2/4	OMIM:131300
23545	ATP6V0A2	HP:0000520	Proptosis	7/7	OMIM:615777
23545	ATP6V0A2	HP:0001808	Fragile nails	-	OMIM:278250
23545	ATP6V0A2	HP:0000592	Blue sclerae	2/7	OMIM:615777
23545	ATP6V0A2	HP:0000592	Blue sclerae	1/1	OMIM:278250
23545	ATP6V0A2	HP:0001869	Deep plantar creases	HP:0040281	ORPHA:2834
23545	ATP6V0A2	HP:0001869	Deep plantar creases	-	OMIM:278250
23545	ATP6V0A2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
23545	ATP6V0A2	HP:0012514	Lower limb pain	4/4	OMIM:131300
23545	ATP6V0A2	HP:0000545	Myopia	-	OMIM:219200
23554	TSPAN12	HP:0001147	Retinal exudate	-	OMIM:613310
23554	TSPAN12	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
23554	TSPAN12	HP:0001141	Severely reduced visual acuity	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0001270	Motor delay	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0100832	Vitreous floaters	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
23554	TSPAN12	HP:0000006	Autosomal dominant inheritance	-	OMIM:613310
23554	TSPAN12	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
23554	TSPAN12	HP:0001493	Falciform retinal fold	2/6	OMIM:613310
23554	TSPAN12	HP:0001493	Falciform retinal fold	HP:0040282	ORPHA:891
23554	TSPAN12	HP:0007685	Peripheral retinal avascularization	HP:0040281	ORPHA:891
23554	TSPAN12	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
23554	TSPAN12	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
23554	TSPAN12	HP:0007663	Reduced visual acuity	3/6	OMIM:613310
23554	TSPAN12	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:891
23554	TSPAN12	HP:0001004	Lymphedema	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0003621	Juvenile onset	8/19	OMIM:180100
23554	TSPAN12	HP:0030503	Macular telangiectasia	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0000618	Blindness	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0030490	Exudative vitreoretinopathy	-	OMIM:613310
23554	TSPAN12	HP:0030496	Macular exudate	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0000662	Nyctalopia	26/28	OMIM:180100
23554	TSPAN12	HP:0030666	Retinal neovascularization	HP:0040282	ORPHA:891
23554	TSPAN12	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0100014	Epiretinal membrane	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0012795	Abnormal optic disc morphology	HP:0040282	ORPHA:891
23554	TSPAN12	HP:0011463	Childhood onset	3/19	OMIM:180100
23554	TSPAN12	HP:0011462	Young adult onset	8/19	OMIM:180100
23554	TSPAN12	HP:0040049	Macular edema	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0007773	Vitreoretinopathy	HP:0040280	ORPHA:891
23554	TSPAN12	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
23554	TSPAN12	HP:0012230	Rhegmatogenous retinal detachment	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0000252	Microcephaly	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
23554	TSPAN12	HP:0031526	Subretinal fluid	HP:0040282	ORPHA:891
23554	TSPAN12	HP:0000365	Hearing impairment	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0007917	Tractional retinal detachment	HP:0040283	OMIM:613310
23554	TSPAN12	HP:0007917	Tractional retinal detachment	HP:0040282	ORPHA:891
23554	TSPAN12	HP:0007902	Vitreous hemorrhage	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0000518	Cataract	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
23554	TSPAN12	HP:0000505	Visual impairment	3/6	OMIM:613310
23554	TSPAN12	HP:0000575	Scotoma	5/18	OMIM:180100
23554	TSPAN12	HP:0000594	Shallow anterior chamber	HP:0040283	OMIM:613310
23554	TSPAN12	HP:0000568	Microphthalmia	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0000533	Chorioretinal atrophy	HP:0040283	ORPHA:891
23554	TSPAN12	HP:0000543	Optic disc pallor	1/1	OMIM:180100
23554	TSPAN12	HP:0000545	Myopia	-	OMIM:180100
23556	PIGN	HP:0001182	Tapered finger	HP:0040282	ORPHA:280633
23556	PIGN	HP:0001156	Brachydactyly	HP:0040282	ORPHA:280633
23556	PIGN	HP:0008635	Urinary bladder wall hypertrophy	HP:0040283	ORPHA:280633
23556	PIGN	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:280633
23556	PIGN	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:2059
23556	PIGN	HP:0009882	Short distal phalanx of finger	-	OMIM:614080
23556	PIGN	HP:0008551	Microtia	HP:0040283	ORPHA:280633
23556	PIGN	HP:0001290	Generalized hypotonia	-	OMIM:614080
23556	PIGN	HP:0001272	Cerebellar atrophy	HP:0040283	OMIM:614080
23556	PIGN	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:280633
23556	PIGN	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2059
23556	PIGN	HP:0001250	Seizure	HP:0040281	ORPHA:280633
23556	PIGN	HP:0001250	Seizure	HP:0040282	ORPHA:2059
23556	PIGN	HP:0001250	Seizure	-	OMIM:614080
23556	PIGN	HP:0001252	Hypotonia	-	OMIM:614080
23556	PIGN	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2059
23556	PIGN	HP:0001249	Intellectual disability	-	OMIM:614080
23556	PIGN	HP:0001265	Hyporeflexia	-	OMIM:614080
23556	PIGN	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:280633
23556	PIGN	HP:0001266	Choreoathetosis	HP:0040282	OMIM:614080
23556	PIGN	HP:0001263	Global developmental delay	HP:0040281	ORPHA:280633
23556	PIGN	HP:0001263	Global developmental delay	-	OMIM:614080
23556	PIGN	HP:0001257	Spasticity	-	OMIM:614080
23556	PIGN	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:2059
23556	PIGN	HP:0007441	Hyperpigmented/hypopigmented macules	HP:0040283	ORPHA:280633
23556	PIGN	HP:0008718	Unilateral renal dysplasia	HP:0040283	ORPHA:280633
23556	PIGN	HP:0008676	Congenital megaureter	HP:0040283	ORPHA:280633
23556	PIGN	HP:0003828	Variable expressivity	-	OMIM:614080
23556	PIGN	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:2059
23556	PIGN	HP:0000076	Vesicoureteral reflux	HP:0040283	OMIM:614080
23556	PIGN	HP:0000073	Ureteral duplication	-	OMIM:614080
23556	PIGN	HP:0000072	Hydroureter	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000047	Hypospadias	HP:0040283	ORPHA:2059
23556	PIGN	HP:0001347	Hyperreflexia	HP:0040282	OMIM:614080
23556	PIGN	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000034	Hydrocele testis	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000034	Hydrocele testis	-	OMIM:614080
23556	PIGN	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:2059
23556	PIGN	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:280633
23556	PIGN	HP:0006165	Proportionate shortening of all digits	HP:0040283	ORPHA:280633
23556	PIGN	HP:0001344	Absent speech	-	OMIM:614080
23556	PIGN	HP:0000007	Autosomal recessive inheritance	-	OMIM:614080
23556	PIGN	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:2059
23556	PIGN	HP:0001337	Tremor	-	OMIM:614080
23556	PIGN	HP:0001337	Tremor	HP:0040282	ORPHA:280633
23556	PIGN	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:2059
23556	PIGN	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:280633
23556	PIGN	HP:0032464	Ureteral hypoplasia	HP:0040284	OMIM:614080
23556	PIGN	HP:0032465	Bladder trabeculation	-	OMIM:614080
23556	PIGN	HP:0000194	Open mouth	-	OMIM:614080
23556	PIGN	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:2059
23556	PIGN	HP:0000160	Narrow mouth	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000175	Cleft palate	-	OMIM:614080
23556	PIGN	HP:0000175	Cleft palate	HP:0040282	ORPHA:2059
23556	PIGN	HP:0000154	Wide mouth	HP:0040282	ORPHA:2059
23556	PIGN	HP:0000154	Wide mouth	HP:0040283	ORPHA:280633
23556	PIGN	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040283	ORPHA:280633
23556	PIGN	HP:0006254	Elevated circulating alpha-fetoprotein concentration	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2059
23556	PIGN	HP:0000126	Hydronephrosis	-	OMIM:614080
23556	PIGN	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000110	Renal dysplasia	-	OMIM:614080
23556	PIGN	HP:0002025	Anal stenosis	-	OMIM:614080
23556	PIGN	HP:0002025	Anal stenosis	HP:0040283	ORPHA:280633
23556	PIGN	HP:0002023	Anal atresia	HP:0040283	ORPHA:2059
23556	PIGN	HP:0002023	Anal atresia	HP:0040283	ORPHA:280633
23556	PIGN	HP:0002023	Anal atresia	-	OMIM:614080
23556	PIGN	HP:0004681	Deep longitudinal plantar crease	HP:0040283	ORPHA:280633
23556	PIGN	HP:0002020	Gastroesophageal reflux	-	OMIM:614080
23556	PIGN	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:2059
23556	PIGN	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:280633
23556	PIGN	HP:0002015	Dysphagia	HP:0040283	ORPHA:280633
23556	PIGN	HP:0002007	Frontal bossing	-	OMIM:614080
23556	PIGN	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:280633
23556	PIGN	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:2059
23556	PIGN	HP:0002089	Pulmonary hypoplasia	HP:0040283	OMIM:614080
23556	PIGN	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:280633
23556	PIGN	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:280633
23556	PIGN	HP:0002059	Cerebral atrophy	-	OMIM:614080
23556	PIGN	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:2059
23556	PIGN	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2059
23556	PIGN	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:280633
23556	PIGN	HP:0002100	Recurrent aspiration pneumonia	HP:0040283	ORPHA:280633
23556	PIGN	HP:0004742	Abnormal renal collecting system morphology	HP:0040283	ORPHA:280633
23556	PIGN	HP:0010544	Vertical nystagmus	HP:0040283	ORPHA:280633
23556	PIGN	HP:0002265	Large fleshy ears	-	OMIM:614080
23556	PIGN	HP:0002265	Large fleshy ears	HP:0040283	ORPHA:280633
23556	PIGN	HP:0003577	Congenital onset	-	OMIM:614080
23556	PIGN	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:2059
23556	PIGN	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:2059
23556	PIGN	HP:0002286	Fair hair	HP:0040283	ORPHA:280633
23556	PIGN	HP:0025025	Rectovestibular fistula	HP:0040283	ORPHA:280633
23556	PIGN	HP:0010804	Tented upper lip vermilion	HP:0040281	ORPHA:2059
23556	PIGN	HP:0010804	Tented upper lip vermilion	HP:0040283	ORPHA:280633
23556	PIGN	HP:0200055	Small hand	HP:0040282	ORPHA:280633
23556	PIGN	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040283	ORPHA:280633
23556	PIGN	HP:0002305	Athetosis	HP:0040283	ORPHA:280633
23556	PIGN	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:2059
23556	PIGN	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:280633
23556	PIGN	HP:0000639	Nystagmus	HP:0040281	ORPHA:280633
23556	PIGN	HP:0000639	Nystagmus	-	OMIM:614080
23556	PIGN	HP:0000646	Amblyopia	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000646	Amblyopia	-	OMIM:614080
23556	PIGN	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:2059
23556	PIGN	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:280633
23556	PIGN	HP:0011333	Asymmetric crying face	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000664	Synophrys	HP:0040283	ORPHA:280633
23556	PIGN	HP:0004397	Ectopic anus	HP:0040283	ORPHA:2059
23556	PIGN	HP:0000774	Narrow chest	HP:0040283	ORPHA:2059
23556	PIGN	HP:0000774	Narrow chest	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000776	Congenital diaphragmatic hernia	HP:0040281	ORPHA:2059
23556	PIGN	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	OMIM:614080
23556	PIGN	HP:0003196	Short nose	-	OMIM:614080
23556	PIGN	HP:0003196	Short nose	HP:0040283	ORPHA:280633
23556	PIGN	HP:0004488	Macrocephaly at birth	HP:0040282	ORPHA:280633
23556	PIGN	HP:0100335	Non-midline cleft of the upper lip	HP:0040282	ORPHA:2059
23556	PIGN	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:2059
23556	PIGN	HP:0010291	Prominent palatine ridges	HP:0040282	ORPHA:280633
23556	PIGN	HP:0010282	Thin lower lip vermilion	HP:0040283	ORPHA:280633
23556	PIGN	HP:0005830	Flexion contracture of toe	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000932	Abnormal posterior cranial fossa morphology	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000286	Epicanthus	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000286	Epicanthus	-	OMIM:614080
23556	PIGN	HP:0000280	Coarse facial features	HP:0040282	ORPHA:2059
23556	PIGN	HP:0000280	Coarse facial features	-	OMIM:614080
23556	PIGN	HP:0000280	Coarse facial features	HP:0040282	ORPHA:280633
23556	PIGN	HP:0000293	Full cheeks	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000256	Macrocephaly	HP:0040282	OMIM:614080
23556	PIGN	HP:0000269	Prominent occiput	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000218	High palate	HP:0040282	ORPHA:280633
23556	PIGN	HP:0000218	High palate	-	OMIM:614080
23556	PIGN	HP:0000218	High palate	HP:0040281	ORPHA:2059
23556	PIGN	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:280633
23556	PIGN	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:2059
23556	PIGN	HP:0001561	Polyhydramnios	-	OMIM:614080
23556	PIGN	HP:0000233	Thin vermilion border	-	OMIM:614080
23556	PIGN	HP:0002867	Abnormal ilium morphology	-	OMIM:614080
23556	PIGN	HP:0001539	Omphalocele	HP:0040283	ORPHA:2059
23556	PIGN	HP:0001520	Large for gestational age	-	OMIM:614080
23556	PIGN	HP:0000378	Cupped ear	-	OMIM:614080
23556	PIGN	HP:0000396	Overfolded helix	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000396	Overfolded helix	-	OMIM:614080
23556	PIGN	HP:0001615	Hoarse cry	HP:0040282	ORPHA:280633
23556	PIGN	HP:0000358	Posteriorly rotated ears	-	OMIM:614080
23556	PIGN	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:2059
23556	PIGN	HP:0000369	Low-set ears	-	OMIM:614080
23556	PIGN	HP:0000341	Narrow forehead	-	OMIM:614080
23556	PIGN	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:2059
23556	PIGN	HP:0000343	Long philtrum	-	OMIM:614080
23556	PIGN	HP:0000343	Long philtrum	HP:0040281	ORPHA:2059
23556	PIGN	HP:0000337	Broad forehead	HP:0040281	ORPHA:2059
23556	PIGN	HP:0001667	Right ventricular hypertrophy	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000350	Small forehead	HP:0040283	ORPHA:280633
23556	PIGN	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:2059
23556	PIGN	HP:0000347	Micrognathia	-	OMIM:614080
23556	PIGN	HP:0000347	Micrognathia	HP:0040281	ORPHA:2059
23556	PIGN	HP:0012303	Abnormal aortic arch morphology	HP:0040283	ORPHA:2059
23556	PIGN	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000316	Hypertelorism	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000316	Hypertelorism	-	OMIM:614080
23556	PIGN	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2059
23556	PIGN	HP:0001643	Patent ductus arteriosus	-	OMIM:614080
23556	PIGN	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:280633
23556	PIGN	HP:0001655	Patent foramen ovale	HP:0040282	ORPHA:280633
23556	PIGN	HP:0002951	Partial absence of cerebellar vermis	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000308	Microretrognathia	HP:0040283	ORPHA:280633
23556	PIGN	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:2059
23556	PIGN	HP:0001631	Atrial septal defect	-	OMIM:614080
23556	PIGN	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:280633
23556	PIGN	HP:0007957	Corneal opacity	HP:0040282	ORPHA:2059
23556	PIGN	HP:0006610	Wide intermamillary distance	HP:0040282	ORPHA:2059
23556	PIGN	HP:0000498	Blepharitis	HP:0040283	ORPHA:280633
23556	PIGN	HP:0005280	Depressed nasal bridge	-	OMIM:614080
23556	PIGN	HP:0000486	Strabismus	HP:0040282	ORPHA:280633
23556	PIGN	HP:0000463	Anteverted nares	-	OMIM:614080
23556	PIGN	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2059
23556	PIGN	HP:0000463	Anteverted nares	HP:0040283	ORPHA:280633
23556	PIGN	HP:0012448	Delayed myelination	HP:0040282	ORPHA:280633
23556	PIGN	HP:0000474	Thickened nuchal skin fold	HP:0040282	ORPHA:2059
23556	PIGN	HP:0000470	Short neck	HP:0040281	ORPHA:2059
23556	PIGN	HP:0000470	Short neck	HP:0040283	ORPHA:280633
23556	PIGN	HP:0001773	Short foot	HP:0040282	ORPHA:280633
23556	PIGN	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:2059
23556	PIGN	HP:0001761	Pes cavus	HP:0040283	ORPHA:280633
23556	PIGN	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040281	ORPHA:2059
23556	PIGN	HP:0011271	Prominent tragus	HP:0040283	ORPHA:280633
23556	PIGN	HP:0001804	Hypoplastic fingernail	HP:0040281	ORPHA:2059
23556	PIGN	HP:0001804	Hypoplastic fingernail	HP:0040283	ORPHA:280633
23556	PIGN	HP:0011247	Prominent superior crus of antihelix	HP:0040282	ORPHA:280633
23556	PIGN	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:280633
23556	PIGN	HP:0000568	Microphthalmia	HP:0040283	ORPHA:2059
23556	PIGN	HP:0000565	Esotropia	HP:0040283	ORPHA:280633
23556	PIGN	HP:0001869	Deep plantar creases	-	OMIM:614080
23558	WBP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617639
23558	WBP2	HP:0000365	Hearing impairment	2/2	OMIM:617639
23562	CLDN14	HP:0000007	Autosomal recessive inheritance	-	OMIM:614035
23562	CLDN14	HP:0003680	Nonprogressive	-	OMIM:614035
23562	CLDN14	HP:0000365	Hearing impairment	-	OMIM:614035
23562	CLDN14	HP:0000407	Sensorineural hearing impairment	-	OMIM:614035
23568	ARL2BP	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
23568	ARL2BP	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
23568	ARL2BP	HP:0007401	Macular atrophy	3/4	OMIM:615434
23568	ARL2BP	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
23568	ARL2BP	HP:0000007	Autosomal recessive inheritance	-	OMIM:615434
23568	ARL2BP	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
23568	ARL2BP	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
23568	ARL2BP	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
23568	ARL2BP	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
23568	ARL2BP	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
23568	ARL2BP	HP:0007663	Reduced visual acuity	4/4	OMIM:615434
23568	ARL2BP	HP:0031245	Productive cough	1/4	OMIM:615434
23568	ARL2BP	HP:0002719	Recurrent infections	1/4	OMIM:615434
23568	ARL2BP	HP:0002110	Bronchiectasis	1/4	OMIM:615434
23568	ARL2BP	HP:0003623	Neonatal onset	1/4	OMIM:615434
23568	ARL2BP	HP:0003621	Juvenile onset	8/19	OMIM:180100
23568	ARL2BP	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
23568	ARL2BP	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
23568	ARL2BP	HP:0000618	Blindness	HP:0040281	ORPHA:791
23568	ARL2BP	HP:0000613	Photophobia	HP:0040281	ORPHA:791
23568	ARL2BP	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
23568	ARL2BP	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
23568	ARL2BP	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
23568	ARL2BP	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
23568	ARL2BP	HP:0000662	Nyctalopia	26/28	OMIM:180100
23568	ARL2BP	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
23568	ARL2BP	HP:0011463	Childhood onset	3/19	OMIM:180100
23568	ARL2BP	HP:0011462	Young adult onset	8/19	OMIM:180100
23568	ARL2BP	HP:0011462	Young adult onset	3/4	OMIM:615434
23568	ARL2BP	HP:0030786	Photopsia	HP:0040283	ORPHA:791
23568	ARL2BP	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
23568	ARL2BP	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
23568	ARL2BP	HP:0033036	Decreased nasal nitric oxide	1/1	OMIM:615434
23568	ARL2BP	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
23568	ARL2BP	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
23568	ARL2BP	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
23568	ARL2BP	HP:0007787	Posterior subcapsular cataract	1/4	OMIM:615434
23568	ARL2BP	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
23568	ARL2BP	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
23568	ARL2BP	HP:0012207	Reduced sperm motility	1/1	OMIM:615434
23568	ARL2BP	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
23568	ARL2BP	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
23568	ARL2BP	HP:0001696	Situs inversus totalis	2/4	OMIM:615434
23568	ARL2BP	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
23568	ARL2BP	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
23568	ARL2BP	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
23568	ARL2BP	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
23568	ARL2BP	HP:0001742	Nasal congestion	1/4	OMIM:615434
23568	ARL2BP	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
23568	ARL2BP	HP:0000510	Rod-cone dystrophy	4/4	OMIM:615434
23568	ARL2BP	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
23568	ARL2BP	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
23568	ARL2BP	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
23568	ARL2BP	HP:0000575	Scotoma	5/18	OMIM:180100
23568	ARL2BP	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
23568	ARL2BP	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
23568	ARL2BP	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
23568	ARL2BP	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
23568	ARL2BP	HP:0000543	Optic disc pallor	1/4	OMIM:615434
23568	ARL2BP	HP:0000543	Optic disc pallor	1/1	OMIM:180100
23568	ARL2BP	HP:0000545	Myopia	-	OMIM:180100
23581	CASP14	HP:0000007	Autosomal recessive inheritance	-	OMIM:617320
23581	CASP14	HP:0040190	White scaling skin	-	OMIM:617320
23586	RIGI	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
23586	RIGI	HP:0001293	Cranial nerve compression	-	OMIM:131300
23586	RIGI	HP:0001252	Hypotonia	2/7	OMIM:615777
23586	RIGI	HP:0001249	Intellectual disability	5/7	OMIM:615777
23586	RIGI	HP:0001263	Global developmental delay	-	OMIM:615777
23586	RIGI	HP:0002515	Waddling gait	54/102	OMIM:131300
23586	RIGI	HP:0001382	Joint hypermobility	-	OMIM:615777
23586	RIGI	HP:0002694	Sclerosis of skull base	-	OMIM:131300
23586	RIGI	HP:0008897	Postnatal growth retardation	-	OMIM:615777
23586	RIGI	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
23586	RIGI	HP:0001324	Muscle weakness	40/96	OMIM:131300
23586	RIGI	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
23586	RIGI	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
23586	RIGI	HP:0000006	Autosomal dominant inheritance	-	OMIM:616298
23586	RIGI	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
23586	RIGI	HP:0002650	Scoliosis	0/11	OMIM:616298
23586	RIGI	HP:0002650	Scoliosis	12/14	OMIM:131300
23586	RIGI	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
23586	RIGI	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
23586	RIGI	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
23586	RIGI	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
23586	RIGI	HP:0000164	Abnormality of the dentition	0/11	OMIM:616298
23586	RIGI	HP:0000175	Cleft palate	2/7	OMIM:615777
23586	RIGI	HP:0003388	Easy fatigability	36/76	OMIM:131300
23586	RIGI	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
23586	RIGI	HP:0003510	Severe short stature	7/7	OMIM:615777
23586	RIGI	HP:0002315	Headache	-	OMIM:131300
23586	RIGI	HP:0004976	Knee dislocation	6/7	OMIM:615777
23586	RIGI	HP:0009803	Short phalanx of finger	-	OMIM:615777
23586	RIGI	HP:0032153	Joint subluxation	1/11	OMIM:616298
23586	RIGI	HP:0009771	Osteolytic defects of the phalanges of the hand	8/8	OMIM:616298
23586	RIGI	HP:0009763	Limb pain	63/92	OMIM:131300
23586	RIGI	HP:0003621	Juvenile onset	4/11	OMIM:616298
23586	RIGI	HP:0003621	Juvenile onset	-	OMIM:131300
23586	RIGI	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
23586	RIGI	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
23586	RIGI	HP:6001056	Out-toeing	-	OMIM:131300
23586	RIGI	HP:0000651	Diplopia	-	OMIM:131300
23586	RIGI	HP:0001956	Truncal obesity	2/7	OMIM:615777
23586	RIGI	HP:0001903	Anemia	HP:0040283	OMIM:131300
23586	RIGI	HP:0010049	Short metacarpal	-	OMIM:615777
23586	RIGI	HP:0000678	Dental crowding	-	OMIM:615777
23586	RIGI	HP:0000670	Carious teeth	-	OMIM:131300
23586	RIGI	HP:0011304	Broad thumb	2/7	OMIM:615777
23586	RIGI	HP:0000668	Hypodontia	-	OMIM:615777
23586	RIGI	HP:0000664	Synophrys	-	OMIM:615777
23586	RIGI	HP:0004322	Short stature	2/11	OMIM:616298
23586	RIGI	HP:0004380	Aortic valve calcification	5/7	OMIM:616298
23586	RIGI	HP:0004396	Poor appetite	-	OMIM:131300
23586	RIGI	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
23586	RIGI	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
23586	RIGI	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
23586	RIGI	HP:0003026	Short long bone	7/7	OMIM:615777
23586	RIGI	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
23586	RIGI	HP:0000767	Pectus excavatum	2/7	OMIM:615777
23586	RIGI	HP:0000768	Pectus carinatum	1/7	OMIM:615777
23586	RIGI	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
23586	RIGI	HP:0000750	Delayed speech and language development	-	OMIM:615777
23586	RIGI	HP:0011463	Childhood onset	5/11	OMIM:616298
23586	RIGI	HP:0011462	Young adult onset	2/11	OMIM:616298
23586	RIGI	HP:0011461	Fetal onset	7/7	OMIM:615777
23586	RIGI	HP:0000774	Narrow chest	2/7	OMIM:615777
23586	RIGI	HP:0000926	Platyspondyly	1/7	OMIM:615777
23586	RIGI	HP:0003180	Flat acetabular roof	-	OMIM:615777
23586	RIGI	HP:0004482	Relative macrocephaly	-	OMIM:615777
23586	RIGI	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
23586	RIGI	HP:0000823	Delayed puberty	-	OMIM:131300
23586	RIGI	HP:0000894	Short clavicles	-	OMIM:615777
23586	RIGI	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
23586	RIGI	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
23586	RIGI	HP:0000962	Hyperkeratosis	1/1	OMIM:616298
23586	RIGI	HP:0000938	Osteopenia	1/8	OMIM:616298
23586	RIGI	HP:0011675	Arrhythmia	0/11	OMIM:616298
23586	RIGI	HP:0000286	Epicanthus	1/7	OMIM:615777
23586	RIGI	HP:0000280	Coarse facial features	2/7	OMIM:615777
23586	RIGI	HP:0002827	Hip dislocation	3/7	OMIM:615777
23586	RIGI	HP:0000252	Microcephaly	-	OMIM:615777
23586	RIGI	HP:0025526	Psoriasiform lesion	7/11	OMIM:616298
23586	RIGI	HP:0002857	Genu valgum	-	OMIM:131300
23586	RIGI	HP:0001533	Slender build	-	OMIM:131300
23586	RIGI	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
23586	RIGI	HP:0007807	Optic nerve compression	-	OMIM:131300
23586	RIGI	HP:0012368	Flat face	7/7	OMIM:615777
23586	RIGI	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
23586	RIGI	HP:0000365	Hearing impairment	10/67	OMIM:131300
23586	RIGI	HP:0000343	Long philtrum	1/7	OMIM:615777
23586	RIGI	HP:0011001	Increased bone mineral density	-	OMIM:131300
23586	RIGI	HP:0001650	Aortic valve stenosis	1/7	OMIM:616298
23586	RIGI	HP:0000311	Round face	2/7	OMIM:615777
23586	RIGI	HP:0002970	Genu varum	-	OMIM:615777
23586	RIGI	HP:0000303	Mandibular prognathia	-	OMIM:131300
23586	RIGI	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
23586	RIGI	HP:0000470	Short neck	1/7	OMIM:615777
23586	RIGI	HP:0001769	Broad foot	HP:0040283	OMIM:615777
23586	RIGI	HP:0001763	Pes planus	1/7	OMIM:615777
23586	RIGI	HP:0001840	Metatarsus adductus	-	OMIM:615777
23586	RIGI	HP:0000520	Proptosis	2/4	OMIM:131300
23586	RIGI	HP:0000520	Proptosis	7/7	OMIM:615777
23586	RIGI	HP:0000501	Glaucoma	10/11	OMIM:616298
23586	RIGI	HP:0000592	Blue sclerae	2/7	OMIM:615777
23586	RIGI	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
23586	RIGI	HP:0012514	Lower limb pain	4/4	OMIM:131300
23590	PDSS1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
23590	PDSS1	HP:0033505	Livedo reticularis	2/2	OMIM:614651
23590	PDSS1	HP:0001284	Areflexia	1/2	OMIM:614651
23590	PDSS1	HP:0001256	Intellectual disability, mild	2/2	OMIM:614651
23590	PDSS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614651
23590	PDSS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
23590	PDSS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
23590	PDSS1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
23590	PDSS1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
23590	PDSS1	HP:0002092	Pulmonary arterial hypertension	1/2	OMIM:614651
23590	PDSS1	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:614651
23590	PDSS1	HP:0100739	Bulimia	1/2	OMIM:614651
23590	PDSS1	HP:0009830	Peripheral neuropathy	2/2	OMIM:614651
23590	PDSS1	HP:0003621	Juvenile onset	8/19	OMIM:180100
23590	PDSS1	HP:0000648	Optic atrophy	2/2	OMIM:614651
23590	PDSS1	HP:0000662	Nyctalopia	26/28	OMIM:180100
23590	PDSS1	HP:0011463	Childhood onset	3/19	OMIM:180100
23590	PDSS1	HP:0011463	Childhood onset	2/2	OMIM:614651
23590	PDSS1	HP:0011462	Young adult onset	8/19	OMIM:180100
23590	PDSS1	HP:0000256	Macrocephaly	2/2	OMIM:614651
23590	PDSS1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
23590	PDSS1	HP:0032653	Elevated lactate:pyruvate ratio	2/2	OMIM:614651
23590	PDSS1	HP:0025502	Overweight	1/2	OMIM:614651
23590	PDSS1	HP:0001513	Obesity	2/2	OMIM:614651
23590	PDSS1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
23590	PDSS1	HP:0000365	Hearing impairment	2/2	OMIM:614651
23590	PDSS1	HP:0001659	Aortic regurgitation	2/2	OMIM:614651
23590	PDSS1	HP:0001653	Mitral regurgitation	2/2	OMIM:614651
23590	PDSS1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
23590	PDSS1	HP:0000575	Scotoma	5/18	OMIM:180100
23590	PDSS1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
23590	PDSS1	HP:0000545	Myopia	-	OMIM:180100
23592	LEMD3	HP:0100925	Sclerosis of foot bone	HP:0040282	ORPHA:166119
23592	LEMD3	HP:0001159	Syndactyly	HP:0040284	ORPHA:166119
23592	LEMD3	HP:0003764	Nevus	1/1	OMIM:166700
23592	LEMD3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
23592	LEMD3	HP:0001293	Cranial nerve compression	-	OMIM:131300
23592	LEMD3	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:94063
23592	LEMD3	HP:0001252	Hypotonia	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0001252	Hypotonia	2/7	OMIM:615777
23592	LEMD3	HP:0001249	Intellectual disability	5/7	OMIM:615777
23592	LEMD3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:94063
23592	LEMD3	HP:0001263	Global developmental delay	-	OMIM:615777
23592	LEMD3	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0100898	Connective tissue nevi	-	OMIM:166700
23592	LEMD3	HP:0007417	Discoid lupus rash	HP:0040284	ORPHA:166119
23592	LEMD3	HP:0031051	Tarsal sclerosis	HP:0040283	ORPHA:166119
23592	LEMD3	HP:0002515	Waddling gait	54/102	OMIM:131300
23592	LEMD3	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0000077	Abnormality of the kidney	HP:0040284	ORPHA:166119
23592	LEMD3	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:166119
23592	LEMD3	HP:0001371	Flexion contracture	-	OMIM:166700
23592	LEMD3	HP:0001387	Joint stiffness	-	OMIM:166700
23592	LEMD3	HP:0001387	Joint stiffness	HP:0040283	ORPHA:166119
23592	LEMD3	HP:0001382	Joint hypermobility	-	OMIM:615777
23592	LEMD3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
23592	LEMD3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
23592	LEMD3	HP:0001328	Specific learning disability	HP:0040281	ORPHA:94063
23592	LEMD3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
23592	LEMD3	HP:0001324	Muscle weakness	40/96	OMIM:131300
23592	LEMD3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
23592	LEMD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
23592	LEMD3	HP:0001337	Tremor	HP:0040282	ORPHA:94063
23592	LEMD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:166700
23592	LEMD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
23592	LEMD3	HP:0002653	Bone pain	HP:0040283	ORPHA:166119
23592	LEMD3	HP:0002650	Scoliosis	1/1	OMIM:166700
23592	LEMD3	HP:0002650	Scoliosis	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0002650	Scoliosis	12/14	OMIM:131300
23592	LEMD3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
23592	LEMD3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
23592	LEMD3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
23592	LEMD3	HP:6000817	Melorheostosis	-	OMIM:166700
23592	LEMD3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
23592	LEMD3	HP:0000175	Cleft palate	HP:0040284	ORPHA:166119
23592	LEMD3	HP:0000175	Cleft palate	2/7	OMIM:615777
23592	LEMD3	HP:0001474	Sclerotic scapulae	HP:0040283	ORPHA:166119
23592	LEMD3	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:1879
23592	LEMD3	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:94063
23592	LEMD3	HP:6000943	Femoral osteopoikilosis	-	OMIM:166700
23592	LEMD3	HP:0002007	Frontal bossing	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0100559	Lower limb asymmetry	1/1	OMIM:166700
23592	LEMD3	HP:0003396	Syringomyelia	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:166119
23592	LEMD3	HP:0003388	Easy fatigability	36/76	OMIM:131300
23592	LEMD3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
23592	LEMD3	HP:0100569	Abnormally ossified vertebrae	HP:0040283	ORPHA:166119
23592	LEMD3	HP:0010562	Keloids	HP:0040284	ORPHA:166119
23592	LEMD3	HP:0011849	Abnormal bone ossification	HP:0040281	ORPHA:166119
23592	LEMD3	HP:0003577	Congenital onset	1/1	OMIM:166700
23592	LEMD3	HP:0100774	Hyperostosis	HP:0040282	ORPHA:166119
23592	LEMD3	HP:0003510	Severe short stature	7/7	OMIM:615777
23592	LEMD3	HP:0001012	Multiple lipomas	HP:0040283	ORPHA:1879
23592	LEMD3	HP:0002315	Headache	-	OMIM:131300
23592	LEMD3	HP:0004976	Knee dislocation	6/7	OMIM:615777
23592	LEMD3	HP:0010816	Epidermal nevus	1/1	OMIM:166700
23592	LEMD3	HP:0009803	Short phalanx of finger	-	OMIM:615777
23592	LEMD3	HP:0032148	Episodic pain	HP:0040283	ORPHA:166119
23592	LEMD3	HP:0009763	Limb pain	63/92	OMIM:131300
23592	LEMD3	HP:0010739	Osteopoikilosis	HP:0040282	ORPHA:94063
23592	LEMD3	HP:0010739	Osteopoikilosis	HP:0040281	ORPHA:1879
23592	LEMD3	HP:0010739	Osteopoikilosis	1/1	OMIM:166700
23592	LEMD3	HP:0002308	Chiari malformation	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0003621	Juvenile onset	-	OMIM:131300
23592	LEMD3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
23592	LEMD3	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0004289	Sclerotic foci in hand bones	HP:0040282	ORPHA:166119
23592	LEMD3	HP:0004240	Sclerotic foci within carpal bones	HP:0040283	ORPHA:166119
23592	LEMD3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
23592	LEMD3	HP:6001056	Out-toeing	-	OMIM:131300
23592	LEMD3	HP:0000651	Diplopia	-	OMIM:131300
23592	LEMD3	HP:0001956	Truncal obesity	2/7	OMIM:615777
23592	LEMD3	HP:0000620	Dacryocystitis	HP:0040283	ORPHA:166119
23592	LEMD3	HP:0001903	Anemia	HP:0040283	OMIM:131300
23592	LEMD3	HP:0010049	Short metacarpal	-	OMIM:615777
23592	LEMD3	HP:0000678	Dental crowding	-	OMIM:615777
23592	LEMD3	HP:0010001	Complete duplication of the distal phalanges of the hand	HP:0040281	ORPHA:1879
23592	LEMD3	HP:0011314	Abnormal long bone morphology	HP:0040282	ORPHA:166119
23592	LEMD3	HP:0000670	Carious teeth	-	OMIM:131300
23592	LEMD3	HP:0011304	Broad thumb	2/7	OMIM:615777
23592	LEMD3	HP:0000668	Hypodontia	-	OMIM:615777
23592	LEMD3	HP:0000668	Hypodontia	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0000664	Synophrys	-	OMIM:615777
23592	LEMD3	HP:0000664	Synophrys	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0004322	Short stature	HP:0040281	ORPHA:94063
23592	LEMD3	HP:0004396	Poor appetite	-	OMIM:131300
23592	LEMD3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
23592	LEMD3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
23592	LEMD3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
23592	LEMD3	HP:0003026	Short long bone	7/7	OMIM:615777
23592	LEMD3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
23592	LEMD3	HP:0009106	Abnormal pelvis bone ossification	HP:0040282	ORPHA:166119
23592	LEMD3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
23592	LEMD3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
23592	LEMD3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
23592	LEMD3	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:94063
23592	LEMD3	HP:0000750	Delayed speech and language development	-	OMIM:615777
23592	LEMD3	HP:0011461	Fetal onset	7/7	OMIM:615777
23592	LEMD3	HP:0000774	Narrow chest	2/7	OMIM:615777
23592	LEMD3	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:166119
23592	LEMD3	HP:0003103	Abnormal cortical bone morphology	HP:0040281	ORPHA:1879
23592	LEMD3	HP:0000926	Platyspondyly	1/7	OMIM:615777
23592	LEMD3	HP:0003180	Flat acetabular roof	-	OMIM:615777
23592	LEMD3	HP:0004482	Relative macrocephaly	-	OMIM:615777
23592	LEMD3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
23592	LEMD3	HP:0100324	Scleroderma	HP:0040284	ORPHA:166119
23592	LEMD3	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0000818	Abnormality of the endocrine system	HP:0040284	ORPHA:166119
23592	LEMD3	HP:0000822	Hypertension	HP:0040283	ORPHA:1879
23592	LEMD3	HP:0000823	Delayed puberty	-	OMIM:131300
23592	LEMD3	HP:0040068	Abnormality of limb bone	HP:0040281	ORPHA:166119
23592	LEMD3	HP:0000894	Short clavicles	-	OMIM:615777
23592	LEMD3	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
23592	LEMD3	HP:0030838	Hip pain	HP:0040283	ORPHA:166119
23592	LEMD3	HP:0030840	Ankle pain	HP:0040283	ORPHA:166119
23592	LEMD3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
23592	LEMD3	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:94063
23592	LEMD3	HP:0000951	Abnormality of the skin	HP:0040283	ORPHA:1879
23592	LEMD3	HP:0040163	Abnormal pelvis bone morphology	HP:0040282	ORPHA:166119
23592	LEMD3	HP:0000286	Epicanthus	1/7	OMIM:615777
23592	LEMD3	HP:0000280	Coarse facial features	2/7	OMIM:615777
23592	LEMD3	HP:0002829	Arthralgia	HP:0040283	ORPHA:166119
23592	LEMD3	HP:0002827	Hip dislocation	3/7	OMIM:615777
23592	LEMD3	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:166119
23592	LEMD3	HP:0000252	Microcephaly	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0000252	Microcephaly	-	OMIM:615777
23592	LEMD3	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0002857	Genu valgum	-	OMIM:131300
23592	LEMD3	HP:0001533	Slender build	-	OMIM:131300
23592	LEMD3	HP:0001508	Failure to thrive	HP:0040281	ORPHA:94063
23592	LEMD3	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:94063
23592	LEMD3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
23592	LEMD3	HP:0007807	Optic nerve compression	-	OMIM:131300
23592	LEMD3	HP:0012368	Flat face	7/7	OMIM:615777
23592	LEMD3	HP:0001609	Hoarse voice	-	OMIM:166700
23592	LEMD3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
23592	LEMD3	HP:0000365	Hearing impairment	10/67	OMIM:131300
23592	LEMD3	HP:0000343	Long philtrum	1/7	OMIM:615777
23592	LEMD3	HP:0011001	Increased bone mineral density	HP:0040281	ORPHA:166119
23592	LEMD3	HP:0011001	Increased bone mineral density	-	OMIM:131300
23592	LEMD3	HP:0000347	Micrognathia	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0000316	Hypertelorism	HP:0040281	ORPHA:94063
23592	LEMD3	HP:0000311	Round face	2/7	OMIM:615777
23592	LEMD3	HP:0000325	Triangular face	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0002960	Autoimmunity	HP:0040284	ORPHA:166119
23592	LEMD3	HP:0001627	Abnormal heart morphology	HP:0040284	ORPHA:166119
23592	LEMD3	HP:0002970	Genu varum	-	OMIM:615777
23592	LEMD3	HP:0000303	Mandibular prognathia	-	OMIM:131300
23592	LEMD3	HP:0005288	Abnormal nostril morphology	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
23592	LEMD3	HP:0000490	Deeply set eye	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0000470	Short neck	1/7	OMIM:615777
23592	LEMD3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
23592	LEMD3	HP:0001763	Pes planus	1/7	OMIM:615777
23592	LEMD3	HP:0000445	Wide nose	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0001743	Abnormality of the spleen	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0001840	Metatarsus adductus	-	OMIM:615777
23592	LEMD3	HP:0000520	Proptosis	2/4	OMIM:131300
23592	LEMD3	HP:0000520	Proptosis	7/7	OMIM:615777
23592	LEMD3	HP:0000592	Blue sclerae	2/7	OMIM:615777
23592	LEMD3	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:94063
23592	LEMD3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
23592	LEMD3	HP:0012514	Lower limb pain	4/4	OMIM:131300
23594	ORC6	HP:0009939	Mandibular aplasia	HP:0040281	ORPHA:2554
23594	ORC6	HP:0009892	Anotia	HP:0040281	ORPHA:2554
23594	ORC6	HP:0008551	Microtia	3/3	OMIM:613803
23594	ORC6	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
23594	ORC6	HP:0001293	Cranial nerve compression	-	OMIM:131300
23594	ORC6	HP:0001270	Motor delay	HP:0040283	OMIM:613803
23594	ORC6	HP:0001252	Hypotonia	2/7	OMIM:615777
23594	ORC6	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2554
23594	ORC6	HP:0001249	Intellectual disability	5/7	OMIM:615777
23594	ORC6	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2554
23594	ORC6	HP:0001263	Global developmental delay	-	OMIM:615777
23594	ORC6	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:2554
23594	ORC6	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:2554
23594	ORC6	HP:0008665	Clitoral hypertrophy	-	OMIM:613803
23594	ORC6	HP:0002515	Waddling gait	54/102	OMIM:131300
23594	ORC6	HP:0000064	Hypoplastic labia minora	-	OMIM:613803
23594	ORC6	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:2554
23594	ORC6	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:2554
23594	ORC6	HP:0000059	Hypoplastic labia majora	HP:0040282	ORPHA:2554
23594	ORC6	HP:0000046	Small scrotum	-	OMIM:613803
23594	ORC6	HP:0000039	Epispadias	HP:0040283	ORPHA:2554
23594	ORC6	HP:0000054	Micropenis	-	OMIM:613803
23594	ORC6	HP:0001382	Joint hypermobility	-	OMIM:615777
23594	ORC6	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:2554
23594	ORC6	HP:0000047	Hypospadias	-	OMIM:613803
23594	ORC6	HP:0000047	Hypospadias	HP:0040283	ORPHA:2554
23594	ORC6	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:2554
23594	ORC6	HP:0002694	Sclerosis of skull base	-	OMIM:131300
23594	ORC6	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2554
23594	ORC6	HP:0000028	Cryptorchidism	2/2	OMIM:613803
23594	ORC6	HP:0008897	Postnatal growth retardation	-	OMIM:615777
23594	ORC6	HP:0001328	Specific learning disability	HP:0040283	ORPHA:2554
23594	ORC6	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
23594	ORC6	HP:0001324	Muscle weakness	40/96	OMIM:131300
23594	ORC6	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
23594	ORC6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
23594	ORC6	HP:0000007	Autosomal recessive inheritance	-	OMIM:613803
23594	ORC6	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
23594	ORC6	HP:0002650	Scoliosis	12/14	OMIM:131300
23594	ORC6	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
23594	ORC6	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
23594	ORC6	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
23594	ORC6	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
23594	ORC6	HP:0000193	Bifid uvula	HP:0040283	ORPHA:2554
23594	ORC6	HP:0000160	Narrow mouth	HP:0040281	ORPHA:2554
23594	ORC6	HP:0000160	Narrow mouth	1/3	OMIM:613803
23594	ORC6	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:2554
23594	ORC6	HP:0000175	Cleft palate	2/7	OMIM:615777
23594	ORC6	HP:0000175	Cleft palate	HP:0040283	ORPHA:2554
23594	ORC6	HP:0002705	High, narrow palate	HP:0040282	ORPHA:2554
23594	ORC6	HP:0002780	Bronchomalacia	-	OMIM:613803
23594	ORC6	HP:0002779	Tracheomalacia	-	OMIM:613803
23594	ORC6	HP:0002750	Delayed skeletal maturation	2/3	OMIM:613803
23594	ORC6	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2554
23594	ORC6	HP:0002020	Gastroesophageal reflux	-	OMIM:613803
23594	ORC6	HP:0002098	Respiratory distress	HP:0040282	ORPHA:2554
23594	ORC6	HP:0002094	Dyspnea	HP:0040282	ORPHA:2554
23594	ORC6	HP:0002094	Dyspnea	-	OMIM:613803
23594	ORC6	HP:0003388	Easy fatigability	36/76	OMIM:131300
23594	ORC6	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
23594	ORC6	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2554
23594	ORC6	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:2554
23594	ORC6	HP:0003577	Congenital onset	3/3	OMIM:613803
23594	ORC6	HP:0002215	Sparse axillary hair	-	OMIM:613803
23594	ORC6	HP:0003561	Birth length less than 3rd percentile	2/2	OMIM:613803
23594	ORC6	HP:0002225	Sparse pubic hair	-	OMIM:613803
23594	ORC6	HP:0100783	Breast aplasia	HP:0040283	ORPHA:2554
23594	ORC6	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:2554
23594	ORC6	HP:0011968	Feeding difficulties	1/2	OMIM:613803
23594	ORC6	HP:0003510	Severe short stature	7/7	OMIM:615777
23594	ORC6	HP:0003510	Severe short stature	HP:0040281	ORPHA:2554
23594	ORC6	HP:0002315	Headache	-	OMIM:131300
23594	ORC6	HP:0004976	Knee dislocation	6/7	OMIM:615777
23594	ORC6	HP:0009803	Short phalanx of finger	-	OMIM:615777
23594	ORC6	HP:0009763	Limb pain	63/92	OMIM:131300
23594	ORC6	HP:0003621	Juvenile onset	-	OMIM:131300
23594	ORC6	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
23594	ORC6	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:2554
23594	ORC6	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
23594	ORC6	HP:6001056	Out-toeing	-	OMIM:131300
23594	ORC6	HP:0000651	Diplopia	-	OMIM:131300
23594	ORC6	HP:0001956	Truncal obesity	2/7	OMIM:615777
23594	ORC6	HP:0001903	Anemia	HP:0040283	OMIM:131300
23594	ORC6	HP:0010049	Short metacarpal	-	OMIM:615777
23594	ORC6	HP:0000678	Dental crowding	-	OMIM:615777
23594	ORC6	HP:0000670	Carious teeth	-	OMIM:131300
23594	ORC6	HP:0011304	Broad thumb	2/7	OMIM:615777
23594	ORC6	HP:0000668	Hypodontia	-	OMIM:615777
23594	ORC6	HP:0000664	Synophrys	-	OMIM:615777
23594	ORC6	HP:0004322	Short stature	-	OMIM:613803
23594	ORC6	HP:0004396	Poor appetite	-	OMIM:131300
23594	ORC6	HP:0003065	Patellar hypoplasia	1/3	OMIM:613803
23594	ORC6	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
23594	ORC6	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
23594	ORC6	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:2554
23594	ORC6	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
23594	ORC6	HP:0003026	Short long bone	7/7	OMIM:615777
23594	ORC6	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
23594	ORC6	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:2554
23594	ORC6	HP:0000767	Pectus excavatum	2/7	OMIM:615777
23594	ORC6	HP:0000768	Pectus carinatum	1/7	OMIM:615777
23594	ORC6	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
23594	ORC6	HP:0000750	Delayed speech and language development	HP:0040283	OMIM:613803
23594	ORC6	HP:0000750	Delayed speech and language development	-	OMIM:615777
23594	ORC6	HP:0011461	Fetal onset	7/7	OMIM:615777
23594	ORC6	HP:0000774	Narrow chest	2/7	OMIM:615777
23594	ORC6	HP:0000774	Narrow chest	-	OMIM:613803
23594	ORC6	HP:0000773	Short ribs	-	OMIM:613803
23594	ORC6	HP:0003100	Slender long bone	HP:0040281	ORPHA:2554
23594	ORC6	HP:0003100	Slender long bone	1/1	OMIM:613803
23594	ORC6	HP:0000926	Platyspondyly	1/7	OMIM:615777
23594	ORC6	HP:0003187	Breast hypoplasia	1/1	OMIM:613803
23594	ORC6	HP:0003180	Flat acetabular roof	-	OMIM:615777
23594	ORC6	HP:0004482	Relative macrocephaly	-	OMIM:615777
23594	ORC6	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
23594	ORC6	HP:0000823	Delayed puberty	-	OMIM:131300
23594	ORC6	HP:0000894	Short clavicles	-	OMIM:615777
23594	ORC6	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
23594	ORC6	HP:0010306	Short thorax	-	OMIM:613803
23594	ORC6	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
23594	ORC6	HP:0000286	Epicanthus	1/7	OMIM:615777
23594	ORC6	HP:0000280	Coarse facial features	2/7	OMIM:615777
23594	ORC6	HP:0000278	Retrognathia	HP:0040281	ORPHA:2554
23594	ORC6	HP:0006443	Patellar aplasia	HP:0040282	ORPHA:2554
23594	ORC6	HP:0006443	Patellar aplasia	2/3	OMIM:613803
23594	ORC6	HP:0002812	Coxa vara	-	OMIM:613803
23594	ORC6	HP:0002827	Hip dislocation	3/7	OMIM:615777
23594	ORC6	HP:0000252	Microcephaly	2/3	OMIM:613803
23594	ORC6	HP:0000252	Microcephaly	HP:0040281	ORPHA:2554
23594	ORC6	HP:0000252	Microcephaly	-	OMIM:615777
23594	ORC6	HP:0002878	Respiratory failure	HP:0040282	ORPHA:2554
23594	ORC6	HP:0002857	Genu valgum	-	OMIM:131300
23594	ORC6	HP:0001533	Slender build	-	OMIM:131300
23594	ORC6	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2554
23594	ORC6	HP:0001508	Failure to thrive	-	OMIM:613803
23594	ORC6	HP:0001511	Intrauterine growth retardation	2/2	OMIM:613803
23594	ORC6	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
23594	ORC6	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2554
23594	ORC6	HP:0001510	Growth delay	HP:0040281	ORPHA:2554
23594	ORC6	HP:0007807	Optic nerve compression	-	OMIM:131300
23594	ORC6	HP:0012368	Flat face	7/7	OMIM:615777
23594	ORC6	HP:0006532	Recurrent pneumonia	-	OMIM:613803
23594	ORC6	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
23594	ORC6	HP:0001601	Laryngomalacia	-	OMIM:613803
23594	ORC6	HP:0006498	Aplasia/Hypoplasia of the patella	-	OMIM:613803
23594	ORC6	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2554
23594	ORC6	HP:0000365	Hearing impairment	10/67	OMIM:131300
23594	ORC6	HP:0000356	Abnormality of the outer ear	HP:0040281	ORPHA:2554
23594	ORC6	HP:0000358	Posteriorly rotated ears	-	OMIM:613803
23594	ORC6	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2554
23594	ORC6	HP:0000369	Low-set ears	HP:0040282	ORPHA:2554
23594	ORC6	HP:0000369	Low-set ears	-	OMIM:613803
23594	ORC6	HP:0000343	Long philtrum	1/7	OMIM:615777
23594	ORC6	HP:0011001	Increased bone mineral density	-	OMIM:131300
23594	ORC6	HP:0000347	Micrognathia	HP:0040281	ORPHA:2554
23594	ORC6	HP:0000347	Micrognathia	13/13	OMIM:613803
23594	ORC6	HP:0000311	Round face	2/7	OMIM:615777
23594	ORC6	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:2554
23594	ORC6	HP:0000327	Hypoplasia of the maxilla	3/3	OMIM:613803
23594	ORC6	HP:0000325	Triangular face	-	OMIM:613803
23594	ORC6	HP:0002970	Genu varum	-	OMIM:615777
23594	ORC6	HP:0002970	Genu varum	-	OMIM:613803
23594	ORC6	HP:0000308	Microretrognathia	-	OMIM:613803
23594	ORC6	HP:0000303	Mandibular prognathia	-	OMIM:131300
23594	ORC6	HP:0006628	Absent sternal ossification	-	OMIM:613803
23594	ORC6	HP:0006660	Aplastic clavicle	HP:0040282	ORPHA:2554
23594	ORC6	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
23594	ORC6	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:2554
23594	ORC6	HP:0012471	Thick vermilion border	3/3	OMIM:613803
23594	ORC6	HP:0000494	Downslanted palpebral fissures	-	OMIM:613803
23594	ORC6	HP:0000470	Short neck	1/7	OMIM:615777
23594	ORC6	HP:0001769	Broad foot	HP:0040283	OMIM:615777
23594	ORC6	HP:0001763	Pes planus	1/7	OMIM:615777
23594	ORC6	HP:0000413	Atresia of the external auditory canal	HP:0040281	ORPHA:2554
23594	ORC6	HP:0001762	Talipes equinovarus	-	OMIM:613803
23594	ORC6	HP:0000426	Prominent nasal bridge	-	OMIM:613803
23594	ORC6	HP:0011267	Microtia, third degree	HP:0040281	ORPHA:2554
23594	ORC6	HP:0001840	Metatarsus adductus	-	OMIM:615777
23594	ORC6	HP:0000520	Proptosis	2/4	OMIM:131300
23594	ORC6	HP:0000520	Proptosis	7/7	OMIM:615777
23594	ORC6	HP:0000592	Blue sclerae	2/7	OMIM:615777
23594	ORC6	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
23594	ORC6	HP:0012514	Lower limb pain	4/4	OMIM:131300
23600	AMACR	HP:0001133	Constriction of peripheral visual field	1/1	OMIM:614307
23600	AMACR	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
23600	AMACR	HP:0002401	Stroke-like episode	HP:0040283	ORPHA:79095
23600	AMACR	HP:0001298	Encephalopathy	HP:0040282	ORPHA:79095
23600	AMACR	HP:0001269	Hemiparesis	1/1	OMIM:614307
23600	AMACR	HP:0001268	Mental deterioration	HP:0040283	ORPHA:79095
23600	AMACR	HP:0001250	Seizure	1/2	OMIM:614307
23600	AMACR	HP:0001250	Seizure	HP:0040282	ORPHA:79095
23600	AMACR	HP:0001251	Ataxia	HP:0040283	OMIM:614307
23600	AMACR	HP:0001251	Ataxia	HP:0040283	ORPHA:79095
23600	AMACR	HP:0001260	Dysarthria	-	OMIM:614307
23600	AMACR	HP:0001257	Spasticity	1/2	OMIM:614307
23600	AMACR	HP:0002573	Hematochezia	1/1	OMIM:214950
23600	AMACR	HP:0002573	Hematochezia	HP:0040283	ORPHA:79095
23600	AMACR	HP:0007359	Focal-onset seizure	1/1	OMIM:614307
23600	AMACR	HP:0033643	Increased circulating very long-chain fatty acid concentration	0/3	OMIM:614307
23600	AMACR	HP:0001399	Hepatic failure	-	OMIM:214950
23600	AMACR	HP:0001392	Abnormality of the liver	0/2	OMIM:614307
23600	AMACR	HP:0012053	Decreased circulating calcifediol concentration	1/1	OMIM:214950
23600	AMACR	HP:0001347	Hyperreflexia	1/1	OMIM:614307
23600	AMACR	HP:0001328	Specific learning disability	HP:0040282	ORPHA:79095
23600	AMACR	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
23600	AMACR	HP:0000007	Autosomal recessive inheritance	-	OMIM:614307
23600	AMACR	HP:0000007	Autosomal recessive inheritance	-	OMIM:214950
23600	AMACR	HP:0001337	Tremor	HP:0040283	ORPHA:79095
23600	AMACR	HP:0001337	Tremor	1/1	OMIM:614307
23600	AMACR	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
23600	AMACR	HP:0002611	Cholestatic liver disease	HP:0040283	ORPHA:79095
23600	AMACR	HP:0002630	Fat malabsorption	-	OMIM:214950
23600	AMACR	HP:0000135	Hypogonadism	HP:0040283	ORPHA:79095
23600	AMACR	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
23600	AMACR	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
23600	AMACR	HP:0001406	Intrahepatic cholestasis	-	OMIM:214950
23600	AMACR	HP:0030985	Decreased serum bile acid concentration	1/1	OMIM:214950
23600	AMACR	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:79095
23600	AMACR	HP:0002080	Intention tremor	1/1	OMIM:614307
23600	AMACR	HP:0002076	Migraine	1/1	OMIM:614307
23600	AMACR	HP:0002076	Migraine	HP:0040283	ORPHA:79095
23600	AMACR	HP:6000134	Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts	3/3	OMIM:614307
23600	AMACR	HP:0100513	Decreased circulating vitamin E concentration	1/1	OMIM:214950
23600	AMACR	HP:0034449	Increased phytanic acid:pristanic acid ratio	-	OMIM:614307
23600	AMACR	HP:0008151	Prolonged prothrombin time	1/1	OMIM:214950
23600	AMACR	HP:0002133	Status epilepticus	-	OMIM:614307
23600	AMACR	HP:0010571	Elevated circulating phytanic acid concentration	3/3	OMIM:614307
23600	AMACR	HP:0011892	Decreased circulating vitamin K concentration	HP:0040283	ORPHA:79095
23600	AMACR	HP:0002240	Hepatomegaly	1/1	OMIM:214950
23600	AMACR	HP:0100753	Schizophrenia	HP:0040283	ORPHA:79095
23600	AMACR	HP:0200084	Giant cell hepatitis	HP:0040283	ORPHA:79095
23600	AMACR	HP:0200084	Giant cell hepatitis	1/1	OMIM:214950
23600	AMACR	HP:0002354	Memory impairment	HP:0040283	ORPHA:79095
23600	AMACR	HP:0003645	Prolonged partial thromboplastin time	1/1	OMIM:214950
23600	AMACR	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:79095
23600	AMACR	HP:0007141	Sensorimotor neuropathy	1/2	OMIM:614307
23600	AMACR	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:79095
23600	AMACR	HP:0003623	Neonatal onset	1/1	OMIM:214950
23600	AMACR	HP:0003621	Juvenile onset	8/19	OMIM:180100
23600	AMACR	HP:0030516	Homonymous hemianopia	HP:0040283	ORPHA:79095
23600	AMACR	HP:0000662	Nyctalopia	26/28	OMIM:180100
23600	AMACR	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:214950
23600	AMACR	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:79095
23600	AMACR	HP:0000716	Depression	HP:0040283	ORPHA:79095
23600	AMACR	HP:0000716	Depression	1/1	OMIM:614307
23600	AMACR	HP:0011463	Childhood onset	3/19	OMIM:180100
23600	AMACR	HP:0011462	Young adult onset	8/19	OMIM:180100
23600	AMACR	HP:0011462	Young adult onset	1/1	OMIM:614307
23600	AMACR	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:614307
23600	AMACR	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:79095
23600	AMACR	HP:0003201	Rhabdomyolysis	HP:0040283	ORPHA:79095
23600	AMACR	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
23600	AMACR	HP:0001508	Failure to thrive	-	OMIM:214950
23600	AMACR	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
23600	AMACR	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:79095
23600	AMACR	HP:0006579	Prolonged neonatal jaundice	-	OMIM:214950
23600	AMACR	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:79095
23600	AMACR	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:214950
23600	AMACR	HP:0002904	Hyperbilirubinemia	1/1	OMIM:214950
23600	AMACR	HP:0000518	Cataract	HP:0040283	ORPHA:79095
23600	AMACR	HP:0000518	Cataract	1/1	OMIM:614307
23600	AMACR	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
23600	AMACR	HP:0000510	Rod-cone dystrophy	1/1	OMIM:614307
23600	AMACR	HP:0000505	Visual impairment	1/2	OMIM:614307
23600	AMACR	HP:0000580	Pigmentary retinopathy	1/2	OMIM:614307
23600	AMACR	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:79095
23600	AMACR	HP:0000575	Scotoma	5/18	OMIM:180100
23600	AMACR	HP:0000543	Optic disc pallor	1/1	OMIM:180100
23600	AMACR	HP:0000545	Myopia	-	OMIM:180100
23607	CD2AP	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
23607	CD2AP	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
23607	CD2AP	HP:0000083	Renal insufficiency	-	OMIM:607832
23607	CD2AP	HP:0000097	Focal segmental glomerulosclerosis	-	OMIM:607832
23607	CD2AP	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
23607	CD2AP	HP:0000093	Proteinuria	-	OMIM:607832
23607	CD2AP	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
23607	CD2AP	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
23607	CD2AP	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
23607	CD2AP	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
23607	CD2AP	HP:0002315	Headache	HP:0040283	ORPHA:656
23607	CD2AP	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
23607	CD2AP	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
23607	CD2AP	HP:0001945	Fever	HP:0040283	ORPHA:656
23607	CD2AP	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
23607	CD2AP	HP:0000737	Irritability	HP:0040283	ORPHA:656
23607	CD2AP	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
23607	CD2AP	HP:0000790	Hematuria	-	OMIM:607832
23607	CD2AP	HP:0000822	Hypertension	-	OMIM:607832
23607	CD2AP	HP:0000969	Edema	HP:0040281	ORPHA:656
23607	CD2AP	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
23607	CD2AP	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
23630	KCNE5	HP:0001182	Tapered finger	HP:0040282	ORPHA:86818
23630	KCNE5	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:86818
23630	KCNE5	HP:0100820	Glomerulopathy	HP:0040281	ORPHA:86818
23630	KCNE5	HP:0001279	Syncope	HP:0040282	ORPHA:130
23630	KCNE5	HP:0001252	Hypotonia	HP:0040282	ORPHA:86818
23630	KCNE5	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:86818
23630	KCNE5	HP:0000093	Proteinuria	HP:0040281	ORPHA:86818
23630	KCNE5	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
23630	KCNE5	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
23630	KCNE5	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
23630	KCNE5	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
23630	KCNE5	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
23630	KCNE5	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
23630	KCNE5	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
23630	KCNE5	HP:0004445	Elliptocytosis	HP:0040282	ORPHA:86818
23630	KCNE5	HP:0000944	Abnormal metaphysis morphology	HP:0040283	ORPHA:86818
23630	KCNE5	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:86818
23630	KCNE5	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
23630	KCNE5	HP:0000272	Malar flattening	HP:0040281	ORPHA:86818
23630	KCNE5	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:86818
23630	KCNE5	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:86818
23630	KCNE5	HP:0002907	Microscopic hematuria	HP:0040281	ORPHA:86818
23630	KCNE5	HP:0000365	Hearing impairment	HP:0040282	ORPHA:86818
23630	KCNE5	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
23630	KCNE5	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:86818
23630	KCNE5	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
23630	KCNE5	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:86818
23630	KCNE5	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
23630	KCNE5	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:86818
23630	KCNE5	HP:0000486	Strabismus	HP:0040283	ORPHA:86818
23630	KCNE5	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:86818
23630	KCNE5	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:86818
23630	KCNE5	HP:0000463	Anteverted nares	HP:0040281	ORPHA:86818
23630	KCNE5	HP:0000545	Myopia	HP:0040283	ORPHA:86818
23636	NUP62	HP:0002446	Astrocytosis	HP:0040283	ORPHA:225154
23636	NUP62	HP:0007281	Developmental stagnation	-	OMIM:271930
23636	NUP62	HP:0001276	Hypertonia	HP:0040283	ORPHA:225154
23636	NUP62	HP:0001288	Gait disturbance	HP:0040282	ORPHA:225154
23636	NUP62	HP:0001285	Spastic tetraparesis	HP:0040282	ORPHA:225154
23636	NUP62	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:225154
23636	NUP62	HP:0001251	Ataxia	HP:0040282	ORPHA:225154
23636	NUP62	HP:0001249	Intellectual disability	-	OMIM:271930
23636	NUP62	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:225154
23636	NUP62	HP:0001266	Choreoathetosis	-	OMIM:271930
23636	NUP62	HP:0001260	Dysarthria	HP:0040282	ORPHA:225154
23636	NUP62	HP:0001257	Spasticity	HP:0040282	ORPHA:225154
23636	NUP62	HP:0001257	Spasticity	-	OMIM:271930
23636	NUP62	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	HP:0040282	ORPHA:225154
23636	NUP62	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:225154
23636	NUP62	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:225154
23636	NUP62	HP:0012043	Pendular nystagmus	-	OMIM:271930
23636	NUP62	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:225154
23636	NUP62	HP:0001332	Dystonia	HP:0040282	ORPHA:225154
23636	NUP62	HP:0001332	Dystonia	-	OMIM:271930
23636	NUP62	HP:0000007	Autosomal recessive inheritance	-	OMIM:271930
23636	NUP62	HP:0001336	Myoclonus	HP:0040283	ORPHA:225154
23636	NUP62	HP:0007688	Undetectable light- and dark-adapted electroretinogram	HP:0040283	ORPHA:225154
23636	NUP62	HP:0008947	Floppy infant	HP:0040282	ORPHA:225154
23636	NUP62	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:225154
23636	NUP62	HP:0002015	Dysphagia	HP:0040282	ORPHA:225154
23636	NUP62	HP:0002015	Dysphagia	-	OMIM:271930
23636	NUP62	HP:0002066	Gait ataxia	HP:0040282	ORPHA:225154
23636	NUP62	HP:0002063	Rigidity	HP:0040283	ORPHA:225154
23636	NUP62	HP:0003487	Babinski sign	HP:0040282	ORPHA:225154
23636	NUP62	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:225154
23636	NUP62	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:225154
23636	NUP62	HP:0003593	Infantile onset	-	OMIM:271930
23636	NUP62	HP:0002273	Tetraparesis	HP:0040282	ORPHA:225154
23636	NUP62	HP:0002396	Cogwheel rigidity	HP:0040283	ORPHA:225154
23636	NUP62	HP:0002359	Frequent falls	HP:0040283	ORPHA:225154
23636	NUP62	HP:0002376	Developmental regression	-	OMIM:271930
23636	NUP62	HP:0002376	Developmental regression	HP:0040282	ORPHA:225154
23636	NUP62	HP:0000648	Optic atrophy	HP:0040282	ORPHA:225154
23636	NUP62	HP:0000648	Optic atrophy	-	OMIM:271930
23636	NUP62	HP:0012697	Small basal ganglia	HP:0040283	ORPHA:225154
23636	NUP62	HP:0006999	Basal ganglia gliosis	HP:0040282	ORPHA:225154
23636	NUP62	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:225154
23636	NUP62	HP:0011463	Childhood onset	-	OMIM:271930
23636	NUP62	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:225154
23636	NUP62	HP:0001508	Failure to thrive	HP:0040282	ORPHA:225154
23636	NUP62	HP:0001508	Failure to thrive	-	OMIM:271930
23636	NUP62	HP:0007811	Horizontal pendular nystagmus	HP:0040282	ORPHA:225154
23636	NUP62	HP:0006799	Basal ganglia cysts	HP:0040283	ORPHA:225154
23639	DNAAF11	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
23639	DNAAF11	HP:0001217	Clubbing	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0000007	Autosomal recessive inheritance	-	OMIM:614935
23639	DNAAF11	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
23639	DNAAF11	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0031245	Productive cough	HP:0040282	ORPHA:244
23639	DNAAF11	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
23639	DNAAF11	HP:0100582	Nasal polyposis	2/6	OMIM:614935
23639	DNAAF11	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
23639	DNAAF11	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0002110	Bronchiectasis	4/6	OMIM:614935
23639	DNAAF11	HP:0008222	Female infertility	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
23639	DNAAF11	HP:0002205	Recurrent respiratory infections	-	OMIM:614935
23639	DNAAF11	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
23639	DNAAF11	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
23639	DNAAF11	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	-	OMIM:614935
23639	DNAAF11	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
23639	DNAAF11	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0004469	Chronic bronchitis	5/6	OMIM:614935
23639	DNAAF11	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
23639	DNAAF11	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
23639	DNAAF11	HP:0030828	Wheezing	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0003251	Male infertility	HP:0040282	ORPHA:244
23639	DNAAF11	HP:0003251	Male infertility	5/5	OMIM:614935
23639	DNAAF11	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
23639	DNAAF11	HP:0012259	Absent inner and outer dynein arms	-	OMIM:614935
23639	DNAAF11	HP:0012265	Ciliary dyskinesia	-	OMIM:614935
23639	DNAAF11	HP:0012263	Immotile cilia	12/12	OMIM:614935
23639	DNAAF11	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
23639	DNAAF11	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
23639	DNAAF11	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
23639	DNAAF11	HP:0012384	Rhinitis	5/6	OMIM:614935
23639	DNAAF11	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
23639	DNAAF11	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0001696	Situs inversus totalis	2/6	OMIM:614935
23639	DNAAF11	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
23639	DNAAF11	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
23639	DNAAF11	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
23639	DNAAF11	HP:0000403	Recurrent otitis media	3/6	OMIM:614935
23639	DNAAF11	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
23639	DNAAF11	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
23639	DNAAF11	HP:0011108	Recurrent sinusitis	5/6	OMIM:614935
23639	DNAAF11	HP:0001746	Asplenia	HP:0040284	ORPHA:244
23639	DNAAF11	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
23639	DNAAF11	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
23639	DNAAF11	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
23639	DNAAF11	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
23639	DNAAF11	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
23646	PLD3	HP:0002403	Positive Romberg sign	-	OMIM:617770
23646	PLD3	HP:0001272	Cerebellar atrophy	-	OMIM:617770
23646	PLD3	HP:0001260	Dysarthria	-	OMIM:617770
23646	PLD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:617770
23646	PLD3	HP:0001310	Dysmetria	-	OMIM:617770
23646	PLD3	HP:0002066	Gait ataxia	-	OMIM:617770
23646	PLD3	HP:0003390	Sensory axonal neuropathy	-	OMIM:617770
23646	PLD3	HP:0002070	Limb ataxia	-	OMIM:617770
23646	PLD3	HP:0003581	Adult onset	-	OMIM:617770
23646	PLD3	HP:0003677	Slowly progressive	-	OMIM:617770
23646	PLD3	HP:0000639	Nystagmus	-	OMIM:617770
23646	PLD3	HP:0008003	Jerky ocular pursuit movements	-	OMIM:617770
23646	PLD3	HP:0000514	Slow saccadic eye movements	-	OMIM:617770
23676	SMPX	HP:0003805	Rimmed vacuoles	5/7	OMIM:301075
23676	SMPX	HP:0008994	Proximal muscle weakness in lower limbs	3/10	OMIM:301075
23676	SMPX	HP:0008997	Proximal muscle weakness in upper limbs	6/10	OMIM:301075
23676	SMPX	HP:0008959	Distal upper limb muscle weakness	7/10	OMIM:301075
23676	SMPX	HP:0001423	X-linked dominant inheritance	-	OMIM:300066
23676	SMPX	HP:0001419	X-linked recessive inheritance	-	OMIM:301075
23676	SMPX	HP:0002747	Respiratory insufficiency due to muscle weakness	0/10	OMIM:301075
23676	SMPX	HP:0003596	Middle age onset	7/10	OMIM:301075
23676	SMPX	HP:0003557	Increased variability in muscle fiber diameter	5/7	OMIM:301075
23676	SMPX	HP:0003691	Scapular winging	5/10	OMIM:301075
23676	SMPX	HP:0003687	Centrally nucleated skeletal muscle fibers	3/7	OMIM:301075
23676	SMPX	HP:0009053	Distal lower limb muscle weakness	10/10	OMIM:301075
23676	SMPX	HP:0011463	Childhood onset	-	OMIM:300066
23676	SMPX	HP:0011462	Young adult onset	3/10	OMIM:301075
23676	SMPX	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	4/7	OMIM:301075
23676	SMPX	HP:0005101	High-frequency hearing impairment	-	OMIM:300066
23676	SMPX	HP:0031318	Myofiber disarray	3/7	OMIM:301075
23676	SMPX	HP:0000365	Hearing impairment	0/10	OMIM:301075
23676	SMPX	HP:0001638	Cardiomyopathy	0/9	OMIM:301075
23676	SMPX	HP:0000407	Sensorineural hearing impairment	-	OMIM:300066
23676	SMPX	HP:0000518	Cataract	0/10	OMIM:301075
23676	SMPX	HP:0012548	Fatty replacement of skeletal muscle	7/8	OMIM:301075
23729	SHPK	HP:0025157	Increased urinary sedoheptulose	2/2	OMIM:617213
23729	SHPK	HP:0002570	Steatorrhea	HP:0040282	ORPHA:440713
23729	SHPK	HP:0100886	Abnormality of globe location	HP:0040282	ORPHA:440713
23729	SHPK	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:440713
23729	SHPK	HP:0000091	Abnormal renal tubule morphology	HP:0040282	ORPHA:440713
23729	SHPK	HP:0001396	Cholestasis	HP:0040282	ORPHA:440713
23729	SHPK	HP:0001371	Flexion contracture	HP:0040280	ORPHA:440713
23729	SHPK	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:440713
23729	SHPK	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:440713
23729	SHPK	HP:0008850	Severe postnatal growth retardation	HP:0040282	ORPHA:440713
23729	SHPK	HP:0000007	Autosomal recessive inheritance	2/2	OMIM:617213
23729	SHPK	HP:0002611	Cholestatic liver disease	HP:0040282	ORPHA:440713
23729	SHPK	HP:0012157	Subcortical cerebral atrophy	HP:0040282	ORPHA:440713
23729	SHPK	HP:0012115	Hepatitis	HP:0040282	ORPHA:440713
23729	SHPK	HP:0001409	Portal hypertension	HP:0040282	ORPHA:440713
23729	SHPK	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:440713
23729	SHPK	HP:0011998	Postprandial hyperglycemia	HP:0040282	ORPHA:440713
23729	SHPK	HP:0004840	Hypochromic microcytic anemia	HP:0040282	ORPHA:440713
23729	SHPK	HP:0000601	Hypotelorism	HP:0040282	ORPHA:440713
23729	SHPK	HP:0001903	Anemia	HP:0040282	ORPHA:440713
23729	SHPK	HP:0004322	Short stature	HP:0040282	ORPHA:440713
23729	SHPK	HP:0011400	Abnormal CNS myelination	HP:0040282	ORPHA:440713
23729	SHPK	HP:0012768	Neonatal asphyxia	HP:0040280	ORPHA:440713
23729	SHPK	HP:0000256	Macrocephaly	HP:0040282	ORPHA:440713
23729	SHPK	HP:0002804	Arthrogryposis multiplex congenita	HP:0040280	ORPHA:440713
23729	SHPK	HP:0000239	Large fontanelles	HP:0040282	ORPHA:440713
23729	SHPK	HP:0001540	Diastasis recti	HP:0040282	ORPHA:440713
23729	SHPK	HP:0000348	High forehead	HP:0040282	ORPHA:440713
23729	SHPK	HP:0001623	Breech presentation	HP:0040282	ORPHA:440713
23729	SHPK	HP:0000586	Shallow orbits	HP:0040282	ORPHA:440713
23732	FRRS1L	HP:0002487	Hyperkinetic movements	-	OMIM:616981
23732	FRRS1L	HP:0002487	Hyperkinetic movements	HP:0040283	ORPHA:725
23732	FRRS1L	HP:0007270	Atypical absence seizure	HP:0040282	ORPHA:725
23732	FRRS1L	HP:0010864	Intellectual disability, severe	8/8	OMIM:616981
23732	FRRS1L	HP:0001272	Cerebellar atrophy	-	OMIM:616981
23732	FRRS1L	HP:0001288	Gait disturbance	-	OMIM:616981
23732	FRRS1L	HP:0001250	Seizure	HP:0040281	ORPHA:725
23732	FRRS1L	HP:0001252	Hypotonia	3/8	OMIM:616981
23732	FRRS1L	HP:0001249	Intellectual disability	HP:0040282	ORPHA:725
23732	FRRS1L	HP:0001266	Choreoathetosis	8/8	OMIM:616981
23732	FRRS1L	HP:0001263	Global developmental delay	8/8	OMIM:616981
23732	FRRS1L	HP:0001257	Spasticity	4/8	OMIM:616981
23732	FRRS1L	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:725
23732	FRRS1L	HP:0012010	EEG with frontal focal spike waves	HP:0040282	ORPHA:725
23732	FRRS1L	HP:0001345	Psychotic mentation	HP:0040283	ORPHA:725
23732	FRRS1L	HP:0012001	EEG with generalized polyspikes	HP:0040283	ORPHA:725
23732	FRRS1L	HP:0031165	Multifocal seizures	2/8	OMIM:616981
23732	FRRS1L	HP:0001332	Dystonia	HP:0040283	ORPHA:725
23732	FRRS1L	HP:0001344	Absent speech	8/8	OMIM:616981
23732	FRRS1L	HP:0000007	Autosomal recessive inheritance	-	OMIM:616981
23732	FRRS1L	HP:0001336	Myoclonus	1/8	OMIM:616981
23732	FRRS1L	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:725
23732	FRRS1L	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:725
23732	FRRS1L	HP:0002069	Bilateral tonic-clonic seizure	1/8	OMIM:616981
23732	FRRS1L	HP:0002063	Rigidity	5/8	OMIM:616981
23732	FRRS1L	HP:0002072	Chorea	8/8	OMIM:616981
23732	FRRS1L	HP:0002059	Cerebral atrophy	-	OMIM:616981
23732	FRRS1L	HP:0002266	Focal clonic seizure	HP:0040283	ORPHA:725
23732	FRRS1L	HP:0003593	Infantile onset	2/8	OMIM:616981
23732	FRRS1L	HP:0200134	Epileptic encephalopathy	-	OMIM:616981
23732	FRRS1L	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:725
23732	FRRS1L	HP:0002381	Aphasia	HP:0040283	ORPHA:725
23732	FRRS1L	HP:0002396	Cogwheel rigidity	1/8	OMIM:616981
23732	FRRS1L	HP:0002375	Hypokinesia	4/8	OMIM:616981
23732	FRRS1L	HP:0002376	Developmental regression	HP:0040282	ORPHA:725
23732	FRRS1L	HP:0002376	Developmental regression	6/8	OMIM:616981
23732	FRRS1L	HP:0002349	Focal aware seizure	HP:0040282	ORPHA:725
23732	FRRS1L	HP:0002333	Motor deterioration	HP:0040283	ORPHA:725
23732	FRRS1L	HP:0010819	Atonic seizure	HP:0040283	ORPHA:725
23732	FRRS1L	HP:0002312	Clumsiness	HP:0040283	ORPHA:725
23732	FRRS1L	HP:0006813	Focal hemiclonic seizure	4/8	OMIM:616981
23732	FRRS1L	HP:0006813	Focal hemiclonic seizure	HP:0040282	ORPHA:725
23732	FRRS1L	HP:0009088	Speech articulation difficulties	HP:0040283	ORPHA:725
23732	FRRS1L	HP:0000639	Nystagmus	1/8	OMIM:616981
23732	FRRS1L	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:725
23732	FRRS1L	HP:0000729	Autistic behavior	HP:0040283	ORPHA:725
23732	FRRS1L	HP:0011463	Childhood onset	6/8	OMIM:616981
23732	FRRS1L	HP:0011098	Speech apraxia	HP:0040283	ORPHA:725
23732	FRRS1L	HP:0031491	Continuous spike and waves during slow sleep	HP:0040281	ORPHA:725
23732	FRRS1L	HP:0011182	Interictal epileptiform activity	HP:0040281	ORPHA:725
23732	FRRS1L	HP:0011147	Typical absence seizure	HP:0040283	ORPHA:725
23732	FRRS1L	HP:0011150	Myoclonic absence seizure	HP:0040283	ORPHA:725
23732	FRRS1L	HP:0011153	Focal motor seizure	HP:0040282	ORPHA:725
23732	FRRS1L	HP:0012557	EEG with centrotemporal focal spike waves	HP:0040282	ORPHA:725
23742	NPAP1	HP:0001159	Syndactyly	HP:0040283	OMIM:176270
23742	NPAP1	HP:0007328	Impaired pain sensation	HP:0040282	OMIM:176270
23742	NPAP1	HP:0003745	Sporadic	-	OMIM:176270
23742	NPAP1	HP:0001290	Generalized hypotonia	HP:0040281	OMIM:176270
23742	NPAP1	HP:0001270	Motor delay	HP:0040281	OMIM:176270
23742	NPAP1	HP:0001250	Seizure	31/154	OMIM:176270
23742	NPAP1	HP:0001249	Intellectual disability	12/12	OMIM:176270
23742	NPAP1	HP:0002591	Polyphagia	105/165	OMIM:176270
23742	NPAP1	HP:0001263	Global developmental delay	HP:0040281	OMIM:176270
23742	NPAP1	HP:0001262	Excessive daytime somnolence	8/12	OMIM:176270
23742	NPAP1	HP:0000064	Hypoplastic labia minora	HP:0040282	OMIM:176270
23742	NPAP1	HP:0000060	Clitoral hypoplasia	HP:0040282	OMIM:176270
23742	NPAP1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	OMIM:176270
23742	NPAP1	HP:0000046	Small scrotum	-	OMIM:176270
23742	NPAP1	HP:0000054	Micropenis	HP:0040282	OMIM:176270
23742	NPAP1	HP:0001385	Hip dysplasia	27/90	OMIM:176270
23742	NPAP1	HP:0000028	Cryptorchidism	118/130	OMIM:176270
23742	NPAP1	HP:0008872	Feeding difficulties in infancy	HP:0040281	OMIM:176270
23742	NPAP1	HP:0007513	Generalized hypopigmentation	-	OMIM:176270
23742	NPAP1	HP:0001328	Specific learning disability	HP:0040281	OMIM:176270
23742	NPAP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:176270
23742	NPAP1	HP:0002650	Scoliosis	150/180	OMIM:176270
23742	NPAP1	HP:0001319	Neonatal hypotonia	244/244	OMIM:176270
23742	NPAP1	HP:0002791	Hypoventilation	-	OMIM:176270
23742	NPAP1	HP:0002714	Downturned corners of mouth	HP:0040282	OMIM:176270
23742	NPAP1	HP:0002033	Poor suck	HP:0040281	OMIM:176270
23742	NPAP1	HP:0005968	Temperature instability	HP:0040283	OMIM:176270
23742	NPAP1	HP:0005978	Type II diabetes mellitus	12/82	OMIM:176270
23742	NPAP1	HP:0030919	Low 5-minute APGAR score	14/244	OMIM:176270
23742	NPAP1	HP:0030918	Low 1-minute APGAR score	55/244	OMIM:176270
23742	NPAP1	HP:0009466	Radial deviation of finger	HP:0040283	OMIM:176270
23742	NPAP1	HP:0002155	Hypertriglyceridemia	10/66	OMIM:176270
23742	NPAP1	HP:0002119	Ventriculomegaly	HP:0040282	OMIM:176270
23742	NPAP1	HP:0010535	Sleep apnea	HP:0040282	OMIM:176270
23742	NPAP1	HP:0003577	Congenital onset	98/244	OMIM:176270
23742	NPAP1	HP:0002236	Frontal upsweep of hair	HP:0040283	OMIM:176270
23742	NPAP1	HP:0100716	Self-injurious behavior	50/62	OMIM:176270
23742	NPAP1	HP:0002205	Recurrent respiratory infections	HP:0040282	OMIM:176270
23742	NPAP1	HP:0007010	Poor fine motor coordination	HP:0040283	OMIM:176270
23742	NPAP1	HP:0007015	Poor gross motor coordination	-	OMIM:176270
23742	NPAP1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	OMIM:176270
23742	NPAP1	HP:0002360	Sleep abnormality	HP:0040282	OMIM:176270
23742	NPAP1	HP:0200055	Small hand	-	OMIM:176270
23742	NPAP1	HP:0033454	Tube feeding	216/244	OMIM:176270
23742	NPAP1	HP:0031878	Acromicria	-	OMIM:176270
23742	NPAP1	HP:0004283	Narrow palm	HP:0040281	OMIM:176270
23742	NPAP1	HP:0004279	Short palm	HP:0040281	OMIM:176270
23742	NPAP1	HP:0000670	Carious teeth	HP:0040283	OMIM:176270
23742	NPAP1	HP:0004322	Short stature	HP:0040281	OMIM:176270
23742	NPAP1	HP:0012743	Abdominal obesity	-	OMIM:176270
23742	NPAP1	HP:0000750	Delayed speech and language development	HP:0040281	OMIM:176270
23742	NPAP1	HP:0000717	Autism	210/786	OMIM:176270
23742	NPAP1	HP:0000709	Psychosis	18/92	OMIM:176270
23742	NPAP1	HP:0000708	Atypical behavior	HP:0040282	OMIM:176270
23742	NPAP1	HP:0011461	Fetal onset	146/244	OMIM:176270
23742	NPAP1	HP:0000789	Infertility	HP:0040281	OMIM:176270
23742	NPAP1	HP:0000786	Primary amenorrhea	1/7	OMIM:176270
23742	NPAP1	HP:0003124	Hypercholesterolemia	42/66	OMIM:176270
23742	NPAP1	HP:0003199	Decreased muscle mass	HP:0040282	OMIM:176270
23742	NPAP1	HP:0000876	Oligomenorrhea	HP:0040282	OMIM:176270
23742	NPAP1	HP:0000846	Adrenal insufficiency	1/82	OMIM:176270
23742	NPAP1	HP:0000842	Hyperinsulinemia	-	OMIM:176270
23742	NPAP1	HP:0000826	Precocious puberty	-	OMIM:176270
23742	NPAP1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040281	OMIM:176270
23742	NPAP1	HP:0000823	Delayed puberty	HP:0040282	OMIM:176270
23742	NPAP1	HP:0003233	Decreased HDL cholesterol concentration	23/66	OMIM:176270
23742	NPAP1	HP:0003241	External genital hypoplasia	HP:0040281	OMIM:176270
23742	NPAP1	HP:0000992	Cutaneous photosensitivity	HP:0040282	OMIM:176270
23742	NPAP1	HP:0000969	Edema	9/12	OMIM:176270
23742	NPAP1	HP:0000939	Osteoporosis	2/12	OMIM:176270
23742	NPAP1	HP:0000938	Osteopenia	HP:0040283	OMIM:176270
23742	NPAP1	HP:0000268	Dolichocephaly	-	OMIM:176270
23742	NPAP1	HP:0030084	Clinodactyly	-	OMIM:176270
23742	NPAP1	HP:0002808	Kyphosis	HP:0040282	OMIM:176270
23742	NPAP1	HP:0000219	Thin upper lip vermilion	15/20	OMIM:176270
23742	NPAP1	HP:0001562	Oligohydramnios	16/244	OMIM:176270
23742	NPAP1	HP:0001561	Polyhydramnios	57/244	OMIM:176270
23742	NPAP1	HP:0001558	Decreased fetal movement	146/244	OMIM:176270
23742	NPAP1	HP:0025501	Class III obesity	90/165	OMIM:176270
23742	NPAP1	HP:0001531	Failure to thrive in infancy	HP:0040281	OMIM:176270
23742	NPAP1	HP:0002857	Genu valgum	-	OMIM:176270
23742	NPAP1	HP:0001511	Intrauterine growth retardation	50/244	OMIM:176270
23742	NPAP1	HP:0001513	Obesity	85/180	OMIM:176270
23742	NPAP1	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	OMIM:176270
23742	NPAP1	HP:0001611	Hypernasal speech	HP:0040282	OMIM:176270
23742	NPAP1	HP:0000341	Narrow forehead	HP:0040282	OMIM:176270
23742	NPAP1	HP:0001623	Breech presentation	70/244	OMIM:176270
23742	NPAP1	HP:0000486	Strabismus	-	OMIM:176270
23742	NPAP1	HP:0012450	Chronic constipation	5/12	OMIM:176270
23742	NPAP1	HP:0001773	Short foot	HP:0040281	OMIM:176270
23742	NPAP1	HP:0000446	Narrow nasal bridge	HP:0040282	OMIM:176270
23742	NPAP1	HP:0000582	Upslanted palpebral fissure	HP:0040283	OMIM:176270
23742	NPAP1	HP:0000565	Esotropia	HP:0040283	OMIM:176270
23742	NPAP1	HP:0000540	Hypermetropia	-	OMIM:176270
23742	NPAP1	HP:0000545	Myopia	HP:0040283	OMIM:176270
23746	AIPL1	HP:0001133	Constriction of peripheral visual field	-	OMIM:268000
23746	AIPL1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
23746	AIPL1	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
23746	AIPL1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
23746	AIPL1	HP:0001270	Motor delay	HP:0040283	ORPHA:65
23746	AIPL1	HP:0001250	Seizure	HP:0040282	ORPHA:65
23746	AIPL1	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
23746	AIPL1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
23746	AIPL1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
23746	AIPL1	HP:0007401	Macular atrophy	-	OMIM:604393
23746	AIPL1	HP:0012043	Pendular nystagmus	-	OMIM:604393
23746	AIPL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
23746	AIPL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:604393
23746	AIPL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:268000
23746	AIPL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
23746	AIPL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:604393
23746	AIPL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:268000
23746	AIPL1	HP:0001483	Eye poking	HP:0040282	ORPHA:65
23746	AIPL1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
23746	AIPL1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:604393
23746	AIPL1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
23746	AIPL1	HP:0007663	Reduced visual acuity	-	OMIM:604393
23746	AIPL1	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
23746	AIPL1	HP:0001419	X-linked recessive inheritance	-	OMIM:268000
23746	AIPL1	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
23746	AIPL1	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
23746	AIPL1	HP:0003621	Juvenile onset	8/19	OMIM:180100
23746	AIPL1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
23746	AIPL1	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
23746	AIPL1	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
23746	AIPL1	HP:0000618	Blindness	-	OMIM:604393
23746	AIPL1	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
23746	AIPL1	HP:0000613	Photophobia	HP:0040282	ORPHA:65
23746	AIPL1	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
23746	AIPL1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
23746	AIPL1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
23746	AIPL1	HP:0000662	Nyctalopia	-	OMIM:268000
23746	AIPL1	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
23746	AIPL1	HP:0000662	Nyctalopia	-	OMIM:604393
23746	AIPL1	HP:0000662	Nyctalopia	26/28	OMIM:180100
23746	AIPL1	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
23746	AIPL1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
23746	AIPL1	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
23746	AIPL1	HP:0011463	Childhood onset	3/19	OMIM:180100
23746	AIPL1	HP:0011462	Young adult onset	8/19	OMIM:180100
23746	AIPL1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
23746	AIPL1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
23746	AIPL1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
23746	AIPL1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
23746	AIPL1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
23746	AIPL1	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:604393
23746	AIPL1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
23746	AIPL1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
23746	AIPL1	HP:0031605	Abnormality of fundus pigmentation	-	OMIM:268000
23746	AIPL1	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
23746	AIPL1	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
23746	AIPL1	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
23746	AIPL1	HP:0000518	Cataract	HP:0040282	ORPHA:65
23746	AIPL1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
23746	AIPL1	HP:0000510	Rod-cone dystrophy	20/20	OMIM:268000
23746	AIPL1	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
23746	AIPL1	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
23746	AIPL1	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
23746	AIPL1	HP:0000575	Scotoma	5/18	OMIM:180100
23746	AIPL1	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
23746	AIPL1	HP:0000563	Keratoconus	HP:0040283	OMIM:604393
23746	AIPL1	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
23746	AIPL1	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
23746	AIPL1	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:604393
23746	AIPL1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
23746	AIPL1	HP:0000543	Optic disc pallor	-	OMIM:604393
23746	AIPL1	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
23746	AIPL1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
23746	AIPL1	HP:0000545	Myopia	-	OMIM:180100
23761	PISD	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
23761	PISD	HP:0001293	Cranial nerve compression	-	OMIM:131300
23761	PISD	HP:0001252	Hypotonia	2/7	OMIM:615777
23761	PISD	HP:0001249	Intellectual disability	-	OMIM:618889
23761	PISD	HP:0001249	Intellectual disability	5/7	OMIM:615777
23761	PISD	HP:0001263	Global developmental delay	-	OMIM:618889
23761	PISD	HP:0001263	Global developmental delay	-	OMIM:615777
23761	PISD	HP:0002515	Waddling gait	54/102	OMIM:131300
23761	PISD	HP:0001382	Joint hypermobility	-	OMIM:615777
23761	PISD	HP:0002694	Sclerosis of skull base	-	OMIM:131300
23761	PISD	HP:0008897	Postnatal growth retardation	-	OMIM:615777
23761	PISD	HP:0002663	Delayed epiphyseal ossification	-	OMIM:618889
23761	PISD	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
23761	PISD	HP:0001324	Muscle weakness	40/96	OMIM:131300
23761	PISD	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
23761	PISD	HP:0000007	Autosomal recessive inheritance	-	OMIM:618889
23761	PISD	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
23761	PISD	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
23761	PISD	HP:0002650	Scoliosis	-	OMIM:618889
23761	PISD	HP:0002650	Scoliosis	12/14	OMIM:131300
23761	PISD	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
23761	PISD	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
23761	PISD	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
23761	PISD	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
23761	PISD	HP:0000175	Cleft palate	2/7	OMIM:615777
23761	PISD	HP:0003388	Easy fatigability	36/76	OMIM:131300
23761	PISD	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
23761	PISD	HP:0003510	Severe short stature	7/7	OMIM:615777
23761	PISD	HP:0002315	Headache	-	OMIM:131300
23761	PISD	HP:0004976	Knee dislocation	6/7	OMIM:615777
23761	PISD	HP:0009803	Short phalanx of finger	-	OMIM:615777
23761	PISD	HP:0009763	Limb pain	63/92	OMIM:131300
23761	PISD	HP:0003621	Juvenile onset	-	OMIM:131300
23761	PISD	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
23761	PISD	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
23761	PISD	HP:6001056	Out-toeing	-	OMIM:131300
23761	PISD	HP:0000651	Diplopia	-	OMIM:131300
23761	PISD	HP:0001956	Truncal obesity	2/7	OMIM:615777
23761	PISD	HP:0001903	Anemia	HP:0040283	OMIM:131300
23761	PISD	HP:0010049	Short metacarpal	-	OMIM:615777
23761	PISD	HP:0000678	Dental crowding	-	OMIM:615777
23761	PISD	HP:0000670	Carious teeth	-	OMIM:131300
23761	PISD	HP:0011304	Broad thumb	2/7	OMIM:615777
23761	PISD	HP:0000668	Hypodontia	-	OMIM:615777
23761	PISD	HP:0000664	Synophrys	-	OMIM:615777
23761	PISD	HP:0004322	Short stature	-	OMIM:618889
23761	PISD	HP:0004396	Poor appetite	-	OMIM:131300
23761	PISD	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
23761	PISD	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
23761	PISD	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
23761	PISD	HP:0003026	Short long bone	7/7	OMIM:615777
23761	PISD	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
23761	PISD	HP:0000767	Pectus excavatum	2/7	OMIM:615777
23761	PISD	HP:0000768	Pectus carinatum	1/7	OMIM:615777
23761	PISD	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
23761	PISD	HP:0000750	Delayed speech and language development	-	OMIM:615777
23761	PISD	HP:0011461	Fetal onset	7/7	OMIM:615777
23761	PISD	HP:0000774	Narrow chest	2/7	OMIM:615777
23761	PISD	HP:0000926	Platyspondyly	1/7	OMIM:615777
23761	PISD	HP:0003180	Flat acetabular roof	-	OMIM:615777
23761	PISD	HP:0004482	Relative macrocephaly	-	OMIM:615777
23761	PISD	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
23761	PISD	HP:0000823	Delayed puberty	-	OMIM:131300
23761	PISD	HP:0000894	Short clavicles	-	OMIM:615777
23761	PISD	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
23761	PISD	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
23761	PISD	HP:0000286	Epicanthus	1/7	OMIM:615777
23761	PISD	HP:0000280	Coarse facial features	2/7	OMIM:615777
23761	PISD	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:618889
23761	PISD	HP:0002827	Hip dislocation	3/7	OMIM:615777
23761	PISD	HP:0000252	Microcephaly	-	OMIM:618889
23761	PISD	HP:0000252	Microcephaly	-	OMIM:615777
23761	PISD	HP:0002857	Genu valgum	-	OMIM:131300
23761	PISD	HP:0001533	Slender build	-	OMIM:131300
23761	PISD	HP:0031367	Metaphyseal striations	-	OMIM:618889
23761	PISD	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
23761	PISD	HP:0007814	Retinal pigment epithelial mottling	-	OMIM:618889
23761	PISD	HP:0007807	Optic nerve compression	-	OMIM:131300
23761	PISD	HP:0012368	Flat face	7/7	OMIM:615777
23761	PISD	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
23761	PISD	HP:0000365	Hearing impairment	10/67	OMIM:131300
23761	PISD	HP:0000343	Long philtrum	1/7	OMIM:615777
23761	PISD	HP:0011001	Increased bone mineral density	-	OMIM:131300
23761	PISD	HP:0000311	Round face	2/7	OMIM:615777
23761	PISD	HP:0002970	Genu varum	-	OMIM:615777
23761	PISD	HP:0000303	Mandibular prognathia	-	OMIM:131300
23761	PISD	HP:0000407	Sensorineural hearing impairment	-	OMIM:618889
23761	PISD	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
23761	PISD	HP:0000470	Short neck	1/7	OMIM:615777
23761	PISD	HP:0001769	Broad foot	HP:0040283	OMIM:615777
23761	PISD	HP:0001763	Pes planus	1/7	OMIM:615777
23761	PISD	HP:0001840	Metatarsus adductus	-	OMIM:615777
23761	PISD	HP:0000520	Proptosis	2/4	OMIM:131300
23761	PISD	HP:0000520	Proptosis	7/7	OMIM:615777
23761	PISD	HP:0000592	Blue sclerae	2/7	OMIM:615777
23761	PISD	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
23761	PISD	HP:0012514	Lower limb pain	4/4	OMIM:131300
23761	PISD	HP:0000546	Retinal degeneration	-	OMIM:618889
23761	PISD	HP:0000543	Optic disc pallor	-	OMIM:618889
23765	IL17RA	HP:0100825	Cheilitis	HP:0040281	ORPHA:1334
23765	IL17RA	HP:0001250	Seizure	HP:0040283	ORPHA:1334
23765	IL17RA	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1334
23765	IL17RA	HP:0033605	Pustular rash	9/21	OMIM:613953
23765	IL17RA	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:1334
23765	IL17RA	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:1334
23765	IL17RA	HP:0000007	Autosomal recessive inheritance	-	OMIM:613953
23765	IL17RA	HP:0000159	Abnormal lip morphology	HP:0040281	ORPHA:1334
23765	IL17RA	HP:0000142	Abnormal vagina morphology	HP:0040282	ORPHA:1334
23765	IL17RA	HP:0000153	Abnormality of the mouth	HP:0040281	ORPHA:1334
23765	IL17RA	HP:0012115	Hepatitis	HP:0040283	ORPHA:1334
23765	IL17RA	HP:0031292	Cutaneous abscess	1/1	OMIM:613953
23765	IL17RA	HP:0002719	Recurrent infections	HP:0040281	ORPHA:1334
23765	IL17RA	HP:0002715	Abnormality of the immune system	HP:0040281	ORPHA:1334
23765	IL17RA	HP:0002728	Chronic mucocutaneous candidiasis	1/1	OMIM:613953
23765	IL17RA	HP:0002726	Recurrent Staphylococcus aureus infections	1/1	OMIM:613953
23765	IL17RA	HP:0002090	Pneumonia	5/21	OMIM:613953
23765	IL17RA	HP:0002105	Hemoptysis	HP:0040283	ORPHA:1334
23765	IL17RA	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:1334
23765	IL17RA	HP:0002205	Recurrent respiratory infections	HP:0040283	OMIM:613953
23765	IL17RA	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:1334
23765	IL17RA	HP:0200034	Papule	HP:0040282	ORPHA:1334
23765	IL17RA	HP:0025084	Folliculitis	12/22	OMIM:613953
23765	IL17RA	HP:0200039	Pustule	1/1	OMIM:613953
23765	IL17RA	HP:0200042	Skin ulcer	HP:0040281	ORPHA:1334
23765	IL17RA	HP:0010783	Erythema	HP:0040281	ORPHA:1334
23765	IL17RA	HP:0009098	Chronic oral candidiasis	20/21	OMIM:613953
23765	IL17RA	HP:0011370	Recurrent cutaneous fungal infections	1/1	OMIM:613953
23765	IL17RA	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:1334
23765	IL17RA	HP:0004332	Abnormal lymphocyte morphology	0/1	OMIM:613953
23765	IL17RA	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:1334
23765	IL17RA	HP:0004370	Abnormality of temperature regulation	HP:0040283	ORPHA:1334
23765	IL17RA	HP:0012735	Cough	HP:0040283	ORPHA:1334
23765	IL17RA	HP:0000790	Hematuria	HP:0040283	ORPHA:1334
23765	IL17RA	HP:0000989	Pruritus	HP:0040283	ORPHA:1334
23765	IL17RA	HP:0000988	Skin rash	HP:0040281	ORPHA:1334
23765	IL17RA	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:1334
23765	IL17RA	HP:0000964	Eczematoid dermatitis	4/21	OMIM:613953
23765	IL17RA	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:1334
23765	IL17RA	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:1334
23765	IL17RA	HP:0031409	Abnormal lymphocyte physiology	0/1	OMIM:613953
23765	IL17RA	HP:0001581	Recurrent skin infections	1/1	OMIM:613953
23765	IL17RA	HP:0030016	Dyspareunia	HP:0040282	ORPHA:1334
23765	IL17RA	HP:0002837	Recurrent bronchitis	3/22	OMIM:613953
23765	IL17RA	HP:0000403	Recurrent otitis media	1/1	OMIM:613953
23765	IL17RA	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:1334
23765	IL17RA	HP:0011132	Chronic furunculosis	8/22	OMIM:613953
23765	IL17RA	HP:0011108	Recurrent sinusitis	5/22	OMIM:613953
23765	IL17RA	HP:0001821	Broad nail	HP:0040281	ORPHA:1334
23765	IL17RA	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1334
23767	FLRT3	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
23767	FLRT3	HP:0001250	Seizure	HP:0040283	ORPHA:478
23767	FLRT3	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
23767	FLRT3	HP:0001251	Ataxia	HP:0040283	ORPHA:478
23767	FLRT3	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
23767	FLRT3	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
23767	FLRT3	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
23767	FLRT3	HP:0010983	Oligogenic inheritance	-	OMIM:615271
23767	FLRT3	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
23767	FLRT3	HP:0000054	Micropenis	HP:0040281	ORPHA:478
23767	FLRT3	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
23767	FLRT3	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
23767	FLRT3	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
23767	FLRT3	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
23767	FLRT3	HP:0001337	Tremor	HP:0040283	ORPHA:478
23767	FLRT3	HP:0000006	Autosomal dominant inheritance	-	OMIM:615271
23767	FLRT3	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
23767	FLRT3	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
23767	FLRT3	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
23767	FLRT3	HP:0410030	Cleft lip	-	OMIM:615271
23767	FLRT3	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
23767	FLRT3	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
23767	FLRT3	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
23767	FLRT3	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
23767	FLRT3	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
23767	FLRT3	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
23767	FLRT3	HP:0003621	Juvenile onset	-	OMIM:615271
23767	FLRT3	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
23767	FLRT3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
23767	FLRT3	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
23767	FLRT3	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
23767	FLRT3	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
23767	FLRT3	HP:0004409	Hyposmia	-	OMIM:615271
23767	FLRT3	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
23767	FLRT3	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
23767	FLRT3	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
23767	FLRT3	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
23767	FLRT3	HP:0000823	Delayed puberty	-	OMIM:615271
23767	FLRT3	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
23767	FLRT3	HP:0000939	Osteoporosis	-	OMIM:615271
23767	FLRT3	HP:0000938	Osteopenia	-	OMIM:615271
23767	FLRT3	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
23767	FLRT3	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
23767	FLRT3	HP:0001513	Obesity	HP:0040283	ORPHA:478
23767	FLRT3	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
23767	FLRT3	HP:0000365	Hearing impairment	-	OMIM:615271
23767	FLRT3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
23767	FLRT3	HP:0000458	Anosmia	HP:0040281	ORPHA:478
23767	FLRT3	HP:0001763	Pes planus	HP:0040283	ORPHA:478
23767	FLRT3	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
23767	FLRT3	HP:0000508	Ptosis	HP:0040283	ORPHA:478
23767	FLRT3	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
23767	FLRT3	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
23769	FLRT1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:320406
23769	FLRT1	HP:0001260	Dysarthria	HP:0040282	ORPHA:320406
23769	FLRT1	HP:0002650	Scoliosis	HP:0040282	ORPHA:320406
23769	FLRT1	HP:0002600	Hyporeflexia of lower limbs	HP:0040282	ORPHA:320406
23769	FLRT1	HP:0008944	Distal lower limb amyotrophy	HP:0040282	ORPHA:320406
23769	FLRT1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:320406
23769	FLRT1	HP:0003380	Decreased number of peripheral myelinated nerve fibers	HP:0040282	ORPHA:320406
23769	FLRT1	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:320406
23769	FLRT1	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:320406
23769	FLRT1	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:320406
23769	FLRT1	HP:0002267	Exaggerated startle response	HP:0040282	ORPHA:320406
23769	FLRT1	HP:0007020	Progressive spastic paraplegia	HP:0040282	ORPHA:320406
23769	FLRT1	HP:0007054	Proximal hyperreflexia	HP:0040282	ORPHA:320406
23769	FLRT1	HP:0003693	Distal amyotrophy	HP:0040281	ORPHA:320406
23769	FLRT1	HP:0000639	Nystagmus	HP:0040283	ORPHA:320406
23769	FLRT1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:320406
23769	FLRT1	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:320406
23769	FLRT1	HP:0002828	Multiple joint contractures	HP:0040281	ORPHA:320406
23769	FLRT1	HP:0001761	Pes cavus	HP:0040282	ORPHA:320406
23769	FLRT1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:320406
23780	APOL2	HP:0410291	Negativism	-	OMIM:181500
23780	APOL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:181500
23780	APOL2	HP:0100753	Schizophrenia	-	OMIM:181500
23780	APOL2	HP:0007086	Social and occupational deterioration	-	OMIM:181500
23780	APOL2	HP:0002353	EEG abnormality	-	OMIM:181500
23780	APOL2	HP:0000738	Hallucinations	-	OMIM:181500
23780	APOL2	HP:0000746	Delusion	-	OMIM:181500
24137	KIF4A	HP:0001249	Intellectual disability	5/5	OMIM:300923
24137	KIF4A	HP:0001419	X-linked recessive inheritance	-	OMIM:300923
24137	KIF4A	HP:0002069	Bilateral tonic-clonic seizure	4/5	OMIM:300923
24137	KIF4A	HP:0002121	Generalized non-motor (absence) seizure	4/5	OMIM:300923
24137	KIF4A	HP:0001999	Abnormal facial shape	-	OMIM:300923
24137	KIF4A	HP:0000750	Delayed speech and language development	5/5	OMIM:300923
24140	FTSJ1	HP:0009882	Short distal phalanx of finger	1/3	OMIM:309549
24140	FTSJ1	HP:0001250	Seizure	HP:0040283	OMIM:309549
24140	FTSJ1	HP:0001249	Intellectual disability	14/14	OMIM:309549
24140	FTSJ1	HP:0001263	Global developmental delay	3/3	OMIM:309549
24140	FTSJ1	HP:0000179	Thick lower lip vermilion	-	OMIM:309549
24140	FTSJ1	HP:0001419	X-linked recessive inheritance	-	OMIM:309549
24140	FTSJ1	HP:0002194	Delayed gross motor development	1/3	OMIM:309549
24140	FTSJ1	HP:0003593	Infantile onset	-	OMIM:309549
24140	FTSJ1	HP:0100753	Schizophrenia	1/14	OMIM:309549
24140	FTSJ1	HP:0002342	Intellectual disability, moderate	4/4	OMIM:309549
24140	FTSJ1	HP:0000637	Long palpebral fissure	-	OMIM:309549
24140	FTSJ1	HP:0000629	Periorbital fullness	-	OMIM:309549
24140	FTSJ1	HP:0000739	Anxiety	2/14	OMIM:309549
24140	FTSJ1	HP:0000750	Delayed speech and language development	1/3	OMIM:309549
24140	FTSJ1	HP:0000718	Aggressive behavior	5/14	OMIM:309549
24140	FTSJ1	HP:0000717	Autism	1/3	OMIM:309549
24140	FTSJ1	HP:0011463	Childhood onset	-	OMIM:309549
24140	FTSJ1	HP:0000400	Macrotia	3/4	OMIM:309549
24140	FTSJ1	HP:0005280	Depressed nasal bridge	1/3	OMIM:309549
24142	NAA80	HP:0001182	Tapered finger	1/2	OMIM:620830
24142	NAA80	HP:0003701	Proximal muscle weakness	2/2	OMIM:620830
24142	NAA80	HP:0001252	Hypotonia	2/2	OMIM:620830
24142	NAA80	HP:0001263	Global developmental delay	1/2	OMIM:620830
24142	NAA80	HP:0002553	Highly arched eyebrow	2/2	OMIM:620830
24142	NAA80	HP:0025372	Loud snoring	2/2	OMIM:620830
24142	NAA80	HP:0000007	Autosomal recessive inheritance	-	OMIM:620830
24142	NAA80	HP:0000160	Narrow mouth	2/2	OMIM:620830
24142	NAA80	HP:0006342	Peg-shaped maxillary lateral incisors	2/2	OMIM:620830
24142	NAA80	HP:0003327	Axial muscle weakness	2/2	OMIM:620830
24142	NAA80	HP:0002066	Gait ataxia	1/2	OMIM:620830
24142	NAA80	HP:0002162	Low posterior hairline	2/2	OMIM:620830
24142	NAA80	HP:0010535	Sleep apnea	1/1	OMIM:620830
24142	NAA80	HP:0003593	Infantile onset	1/1	OMIM:620830
24142	NAA80	HP:0100716	Self-injurious behavior	1/2	OMIM:620830
24142	NAA80	HP:0011968	Feeding difficulties	2/2	OMIM:620830
24142	NAA80	HP:0000699	Diastema	1/2	OMIM:620830
24142	NAA80	HP:0006956	Lateral ventricle dilatation	1/1	OMIM:620830
24142	NAA80	HP:0034295	Reduced cerebral white matter volume	1/1	OMIM:620830
24142	NAA80	HP:0000286	Epicanthus	2/2	OMIM:620830
24142	NAA80	HP:0000278	Retrognathia	1/2	OMIM:620830
24142	NAA80	HP:0000219	Thin upper lip vermilion	2/2	OMIM:620830
24142	NAA80	HP:0012378	Fatigue	1/2	OMIM:620830
24142	NAA80	HP:0000369	Low-set ears	2/2	OMIM:620830
24142	NAA80	HP:0000316	Hypertelorism	2/2	OMIM:620830
24142	NAA80	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:620830
24142	NAA80	HP:0012450	Chronic constipation	2/2	OMIM:620830
24142	NAA80	HP:0000411	Protruding ear	2/2	OMIM:620830
24142	NAA80	HP:0000508	Ptosis	2/2	OMIM:620830
24145	PANX1	HP:0008669	Abnormal spermatogenesis	-	ORPHA:488191
24145	PANX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618550
24145	PANX1	HP:0000147	Polycystic ovaries	-	ORPHA:488191
24145	PANX1	HP:0032571	Increased oocyte death	-	OMIM:618550
24145	PANX1	HP:0008222	Female infertility	-	OMIM:618550
24145	PANX1	HP:0008222	Female infertility	HP:0040280	ORPHA:488191
24145	PANX1	HP:0020155	Abnormal oocyte morphology	HP:0040283	ORPHA:488191
24145	PANX1	HP:0031515	Abnormal meiosis	HP:0040280	ORPHA:488191
24145	PANX1	HP:0031516	Oocyte arrest at metaphase I	HP:0040282	ORPHA:488191
24148	PRPF6	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
24148	PRPF6	HP:0001133	Constriction of peripheral visual field	2/2	OMIM:613983
24148	PRPF6	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
24148	PRPF6	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
24148	PRPF6	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
24148	PRPF6	HP:0000006	Autosomal dominant inheritance	-	OMIM:613983
24148	PRPF6	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
24148	PRPF6	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
24148	PRPF6	HP:0007663	Reduced visual acuity	2/2	OMIM:613983
24148	PRPF6	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
24148	PRPF6	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
24148	PRPF6	HP:0003621	Juvenile onset	8/19	OMIM:180100
24148	PRPF6	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
24148	PRPF6	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
24148	PRPF6	HP:0000618	Blindness	HP:0040281	ORPHA:791
24148	PRPF6	HP:0000613	Photophobia	HP:0040281	ORPHA:791
24148	PRPF6	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
24148	PRPF6	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
24148	PRPF6	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
24148	PRPF6	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
24148	PRPF6	HP:0000662	Nyctalopia	2/2	OMIM:613983
24148	PRPF6	HP:0000662	Nyctalopia	26/28	OMIM:180100
24148	PRPF6	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
24148	PRPF6	HP:0011463	Childhood onset	3/19	OMIM:180100
24148	PRPF6	HP:0011462	Young adult onset	8/19	OMIM:180100
24148	PRPF6	HP:0011462	Young adult onset	2/2	OMIM:613983
24148	PRPF6	HP:0030786	Photopsia	HP:0040283	ORPHA:791
24148	PRPF6	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
24148	PRPF6	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
24148	PRPF6	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
24148	PRPF6	HP:0007722	Retinal pigment epithelial atrophy	1/1	OMIM:613983
24148	PRPF6	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
24148	PRPF6	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
24148	PRPF6	HP:0007787	Posterior subcapsular cataract	1/2	OMIM:613983
24148	PRPF6	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
24148	PRPF6	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
24148	PRPF6	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:613983
24148	PRPF6	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
24148	PRPF6	HP:0007843	Attenuation of retinal blood vessels	1/1	OMIM:613983
24148	PRPF6	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
24148	PRPF6	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
24148	PRPF6	HP:0007994	Peripheral visual field loss	2/2	OMIM:613983
24148	PRPF6	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
24148	PRPF6	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
24148	PRPF6	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
24148	PRPF6	HP:0000510	Rod-cone dystrophy	2/2	OMIM:613983
24148	PRPF6	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
24148	PRPF6	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
24148	PRPF6	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
24148	PRPF6	HP:0000505	Visual impairment	2/2	OMIM:613983
24148	PRPF6	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
24148	PRPF6	HP:0000575	Scotoma	5/18	OMIM:180100
24148	PRPF6	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
24148	PRPF6	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
24148	PRPF6	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
24148	PRPF6	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
24148	PRPF6	HP:0000543	Optic disc pallor	1/2	OMIM:613983
24148	PRPF6	HP:0000543	Optic disc pallor	1/1	OMIM:180100
24148	PRPF6	HP:0000545	Myopia	-	OMIM:180100
25776	CBY1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
25776	CBY1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
25776	CBY1	HP:0001250	Seizure	HP:0040283	ORPHA:475
25776	CBY1	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
25776	CBY1	HP:0001251	Ataxia	HP:0040281	ORPHA:475
25776	CBY1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
25776	CBY1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
25776	CBY1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
25776	CBY1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
25776	CBY1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
25776	CBY1	HP:0001337	Tremor	HP:0040283	ORPHA:475
25776	CBY1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
25776	CBY1	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
25776	CBY1	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
25776	CBY1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
25776	CBY1	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
25776	CBY1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
25776	CBY1	HP:0002104	Apnea	HP:0040281	ORPHA:475
25776	CBY1	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
25776	CBY1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
25776	CBY1	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
25776	CBY1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
25776	CBY1	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
25776	CBY1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
25776	CBY1	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
25776	CBY1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
25776	CBY1	HP:0000276	Long face	HP:0040282	ORPHA:475
25776	CBY1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
25776	CBY1	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
25776	CBY1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
25776	CBY1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
25776	CBY1	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
25776	CBY1	HP:0000486	Strabismus	HP:0040283	ORPHA:475
25776	CBY1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
25776	CBY1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
25776	CBY1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
25776	CBY1	HP:0000508	Ptosis	HP:0040283	ORPHA:475
25778	DSTYK	HP:0003774	Stage 5 chronic kidney disease	3/12	OMIM:610805
25778	DSTYK	HP:0001256	Intellectual disability, mild	4/4	OMIM:270750
25778	DSTYK	HP:0001250	Seizure	HP:0040283	ORPHA:101003
25778	DSTYK	HP:0001258	Spastic paraplegia	4/4	OMIM:270750
25778	DSTYK	HP:0001258	Spastic paraplegia	HP:0040282	ORPHA:101003
25778	DSTYK	HP:0007340	Lower limb muscle weakness	4/4	OMIM:270750
25778	DSTYK	HP:0002515	Waddling gait	HP:0040282	ORPHA:101003
25778	DSTYK	HP:0003829	Typified by incomplete penetrance	-	OMIM:610805
25778	DSTYK	HP:0002505	Loss of ambulation	3/4	OMIM:270750
25778	DSTYK	HP:0000089	Renal hypoplasia	6/12	OMIM:610805
25778	DSTYK	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:101003
25778	DSTYK	HP:0000076	Vesicoureteral reflux	1/12	OMIM:610805
25778	DSTYK	HP:0000074	Ureteropelvic junction obstruction	3/12	OMIM:610805
25778	DSTYK	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:101003
25778	DSTYK	HP:0001347	Hyperreflexia	4/4	OMIM:270750
25778	DSTYK	HP:0000007	Autosomal recessive inheritance	-	OMIM:270750
25778	DSTYK	HP:0000006	Autosomal dominant inheritance	-	OMIM:610805
25778	DSTYK	HP:0002650	Scoliosis	1/4	OMIM:270750
25778	DSTYK	HP:0002607	Bowel incontinence	HP:0040282	ORPHA:101003
25778	DSTYK	HP:0000122	Unilateral renal agenesis	1/12	OMIM:610805
25778	DSTYK	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:101003
25778	DSTYK	HP:0002064	Spastic gait	HP:0040282	ORPHA:101003
25778	DSTYK	HP:0003487	Babinski sign	4/4	OMIM:270750
25778	DSTYK	HP:0004771	Premature graying of body hair	4/4	OMIM:270750
25778	DSTYK	HP:0003577	Congenital onset	-	OMIM:610805
25778	DSTYK	HP:0002218	Silver-gray hair	HP:0040283	ORPHA:101003
25778	DSTYK	HP:0003691	Scapular winging	1/4	OMIM:270750
25778	DSTYK	HP:0001045	Vitiligo	HP:0040282	ORPHA:101003
25778	DSTYK	HP:0001045	Vitiligo	4/4	OMIM:270750
25778	DSTYK	HP:0001003	Multiple lentigines	HP:0040282	ORPHA:101003
25778	DSTYK	HP:0001003	Multiple lentigines	4/4	OMIM:270750
25778	DSTYK	HP:0009830	Peripheral neuropathy	1/4	OMIM:270750
25778	DSTYK	HP:0005586	Hyperpigmentation in sun-exposed areas	4/4	OMIM:270750
25778	DSTYK	HP:0004322	Short stature	HP:0040283	ORPHA:101003
25778	DSTYK	HP:0012701	Bowel urgency	HP:0040282	ORPHA:101003
25778	DSTYK	HP:0011463	Childhood onset	4/4	OMIM:270750
25778	DSTYK	HP:0000278	Retrognathia	2/4	OMIM:270750
25778	DSTYK	HP:0000275	Narrow face	-	OMIM:270750
25778	DSTYK	HP:0002827	Hip dislocation	HP:0040283	ORPHA:101003
25778	DSTYK	HP:0000252	Microcephaly	2/4	OMIM:270750
25778	DSTYK	HP:0000347	Micrognathia	2/4	OMIM:270750
25782	RAB3GAP2	HP:0001155	Abnormality of the hand	HP:0040282	ORPHA:1387
25782	RAB3GAP2	HP:0100952	Enlarged sylvian cistern	2/2	OMIM:212720
25782	RAB3GAP2	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:401830
25782	RAB3GAP2	HP:0008593	Prominent antitragus	-	OMIM:212720
25782	RAB3GAP2	HP:0010864	Intellectual disability, severe	2/2	OMIM:212720
25782	RAB3GAP2	HP:0010864	Intellectual disability, severe	-	OMIM:614225
25782	RAB3GAP2	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:401830
25782	RAB3GAP2	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:401830
25782	RAB3GAP2	HP:0001250	Seizure	HP:0040283	ORPHA:2510
25782	RAB3GAP2	HP:0001252	Hypotonia	2/3	OMIM:212720
25782	RAB3GAP2	HP:0001252	Hypotonia	1/1	OMIM:614225
25782	RAB3GAP2	HP:0001252	Hypotonia	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1387
25782	RAB3GAP2	HP:0001264	Spastic diplegia	-	OMIM:614225
25782	RAB3GAP2	HP:0001264	Spastic diplegia	2/2	OMIM:212720
25782	RAB3GAP2	HP:0001263	Global developmental delay	3/3	OMIM:212720
25782	RAB3GAP2	HP:0001263	Global developmental delay	1/1	OMIM:614225
25782	RAB3GAP2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:401830
25782	RAB3GAP2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0001257	Spasticity	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:2510
25782	RAB3GAP2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0006094	Finger joint hypermobility	2/2	OMIM:212720
25782	RAB3GAP2	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:2510
25782	RAB3GAP2	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:2510
25782	RAB3GAP2	HP:0000059	Hypoplastic labia majora	-	OMIM:614225
25782	RAB3GAP2	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:212720
25782	RAB3GAP2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:1387
25782	RAB3GAP2	HP:0000046	Small scrotum	-	OMIM:614225
25782	RAB3GAP2	HP:0001371	Flexion contracture	-	OMIM:614225
25782	RAB3GAP2	HP:0025336	Delayed ability to sit	2/2	OMIM:212720
25782	RAB3GAP2	HP:0000054	Micropenis	1/1	OMIM:212720
25782	RAB3GAP2	HP:0000054	Micropenis	-	OMIM:614225
25782	RAB3GAP2	HP:0001387	Joint stiffness	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0001382	Joint hypermobility	-	OMIM:212720
25782	RAB3GAP2	HP:0000023	Inguinal hernia	1/2	OMIM:212720
25782	RAB3GAP2	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0000028	Cryptorchidism	1/1	OMIM:212720
25782	RAB3GAP2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1387
25782	RAB3GAP2	HP:0000028	Cryptorchidism	-	OMIM:614225
25782	RAB3GAP2	HP:0008897	Postnatal growth retardation	-	OMIM:614225
25782	RAB3GAP2	HP:0008872	Feeding difficulties in infancy	2/2	OMIM:212720
25782	RAB3GAP2	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:1387
25782	RAB3GAP2	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:1387
25782	RAB3GAP2	HP:0007477	Abnormal dermatoglyphics	HP:0040281	ORPHA:1387
25782	RAB3GAP2	HP:0003992	Slender ulna	-	OMIM:212720
25782	RAB3GAP2	HP:0001344	Absent speech	1/1	OMIM:614225
25782	RAB3GAP2	HP:0001339	Lissencephaly	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:212720
25782	RAB3GAP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614225
25782	RAB3GAP2	HP:0001302	Pachygyria	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:2510
25782	RAB3GAP2	HP:0002650	Scoliosis	HP:0040282	ORPHA:2510
25782	RAB3GAP2	HP:0002650	Scoliosis	HP:0040283	ORPHA:1387
25782	RAB3GAP2	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:2510
25782	RAB3GAP2	HP:0001315	Reduced tendon reflexes	1/1	OMIM:212720
25782	RAB3GAP2	HP:0008936	Axial hypotonia	-	OMIM:614225
25782	RAB3GAP2	HP:0002779	Tracheomalacia	-	OMIM:212720
25782	RAB3GAP2	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2510
25782	RAB3GAP2	HP:0004684	Talipes valgus	2/2	OMIM:212720
25782	RAB3GAP2	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:1387
25782	RAB3GAP2	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1387
25782	RAB3GAP2	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:2510
25782	RAB3GAP2	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:401830
25782	RAB3GAP2	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:614225
25782	RAB3GAP2	HP:0009465	Ulnar deviation of finger	HP:0040282	ORPHA:1387
25782	RAB3GAP2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:1387
25782	RAB3GAP2	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:401830
25782	RAB3GAP2	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:2510
25782	RAB3GAP2	HP:0002119	Ventriculomegaly	1/2	OMIM:212720
25782	RAB3GAP2	HP:0002126	Polymicrogyria	1/1	OMIM:614225
25782	RAB3GAP2	HP:0011918	Clinodactyly of the 4th toe	1/1	OMIM:614225
25782	RAB3GAP2	HP:0002169	Clonus	1/1	OMIM:212720
25782	RAB3GAP2	HP:0002162	Low posterior hairline	2/2	OMIM:212720
25782	RAB3GAP2	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:1387
25782	RAB3GAP2	HP:0003577	Congenital onset	1/1	OMIM:614225
25782	RAB3GAP2	HP:0100704	Cerebral visual impairment	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0100702	Arachnoid cyst	1/2	OMIM:212720
25782	RAB3GAP2	HP:0002230	Generalized hirsutism	HP:0040282	ORPHA:2510
25782	RAB3GAP2	HP:0002205	Recurrent respiratory infections	-	OMIM:212720
25782	RAB3GAP2	HP:0009738	Abnormal antihelix morphology	HP:0040283	ORPHA:1387
25782	RAB3GAP2	HP:0010722	Asymmetry of the ears	1/1	OMIM:614225
25782	RAB3GAP2	HP:0002283	Global brain atrophy	1/1	OMIM:614225
25782	RAB3GAP2	HP:0007020	Progressive spastic paraplegia	HP:0040282	ORPHA:401830
25782	RAB3GAP2	HP:0008388	Abnormal toenail morphology	HP:0040282	ORPHA:1387
25782	RAB3GAP2	HP:0008388	Abnormal toenail morphology	-	OMIM:212720
25782	RAB3GAP2	HP:0002378	Hand tremor	HP:0040282	ORPHA:401830
25782	RAB3GAP2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:2510
25782	RAB3GAP2	HP:0009832	Abnormal distal phalanx morphology of finger	HP:0040282	ORPHA:1387
25782	RAB3GAP2	HP:0009803	Short phalanx of finger	-	OMIM:212720
25782	RAB3GAP2	HP:0010740	Osteopathia striata	1/2	OMIM:212720
25782	RAB3GAP2	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:401830
25782	RAB3GAP2	HP:0004279	Short palm	-	OMIM:212720
25782	RAB3GAP2	HP:0006887	Intellectual disability, progressive	-	OMIM:212720
25782	RAB3GAP2	HP:0000649	Abnormality of visual evoked potentials	HP:0040282	ORPHA:2510
25782	RAB3GAP2	HP:0000648	Optic atrophy	-	OMIM:614225
25782	RAB3GAP2	HP:0000648	Optic atrophy	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0000601	Hypotelorism	HP:0040282	ORPHA:1387
25782	RAB3GAP2	HP:0010049	Short metacarpal	-	OMIM:212720
25782	RAB3GAP2	HP:0011344	Severe global developmental delay	1/1	OMIM:212720
25782	RAB3GAP2	HP:0011344	Severe global developmental delay	-	OMIM:614225
25782	RAB3GAP2	HP:0000692	Tooth malposition	HP:0040282	ORPHA:1387
25782	RAB3GAP2	HP:0000692	Tooth malposition	-	OMIM:212720
25782	RAB3GAP2	HP:0011300	Broad fingertip	-	OMIM:212720
25782	RAB3GAP2	HP:0004322	Short stature	1/2	OMIM:212720
25782	RAB3GAP2	HP:0004322	Short stature	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0004322	Short stature	HP:0040281	ORPHA:1387
25782	RAB3GAP2	HP:0031936	Delayed ability to walk	2/2	OMIM:212720
25782	RAB3GAP2	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:401830
25782	RAB3GAP2	HP:0000767	Pectus excavatum	-	OMIM:212720
25782	RAB3GAP2	HP:0000768	Pectus carinatum	-	OMIM:212720
25782	RAB3GAP2	HP:0000750	Delayed speech and language development	1/1	OMIM:212720
25782	RAB3GAP2	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2/2	OMIM:212720
25782	RAB3GAP2	HP:0004405	Prominent nipples	-	OMIM:212720
25782	RAB3GAP2	HP:0003196	Short nose	1/1	OMIM:614225
25782	RAB3GAP2	HP:0003196	Short nose	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0000823	Delayed puberty	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0030891	Periventricular white matter hyperintensities	1/1	OMIM:212720
25782	RAB3GAP2	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:2510
25782	RAB3GAP2	HP:0000286	Epicanthus	-	OMIM:212720
25782	RAB3GAP2	HP:0000294	Low anterior hairline	1/3	OMIM:212720
25782	RAB3GAP2	HP:0000294	Low anterior hairline	-	OMIM:614225
25782	RAB3GAP2	HP:0000272	Malar flattening	HP:0040281	ORPHA:1387
25782	RAB3GAP2	HP:0006429	Broad femoral neck	1/2	OMIM:212720
25782	RAB3GAP2	HP:0002808	Kyphosis	HP:0040282	ORPHA:2510
25782	RAB3GAP2	HP:0000252	Microcephaly	3/4	OMIM:212720
25782	RAB3GAP2	HP:0000252	Microcephaly	1/1	OMIM:614225
25782	RAB3GAP2	HP:0000252	Microcephaly	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0000252	Microcephaly	HP:0040281	ORPHA:1387
25782	RAB3GAP2	HP:0000248	Brachycephaly	2/2	OMIM:212720
25782	RAB3GAP2	HP:0000248	Brachycephaly	HP:0040282	ORPHA:1387
25782	RAB3GAP2	HP:0000248	Brachycephaly	1/1	OMIM:614225
25782	RAB3GAP2	HP:0000221	Furrowed tongue	HP:0040281	ORPHA:1387
25782	RAB3GAP2	HP:0000218	High palate	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0000218	High palate	-	OMIM:212720
25782	RAB3GAP2	HP:0000218	High palate	HP:0040282	ORPHA:1387
25782	RAB3GAP2	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:1387
25782	RAB3GAP2	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2510
25782	RAB3GAP2	HP:0002938	Lumbar hyperlordosis	-	OMIM:212720
25782	RAB3GAP2	HP:0002943	Thoracic scoliosis	2/2	OMIM:212720
25782	RAB3GAP2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:401830
25782	RAB3GAP2	HP:0001695	Cardiac arrest	1/3	OMIM:212720
25782	RAB3GAP2	HP:0000358	Posteriorly rotated ears	-	OMIM:212720
25782	RAB3GAP2	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1387
25782	RAB3GAP2	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2510
25782	RAB3GAP2	HP:0000369	Low-set ears	1/1	OMIM:212720
25782	RAB3GAP2	HP:0000343	Long philtrum	1/1	OMIM:212720
25782	RAB3GAP2	HP:0000347	Micrognathia	HP:0040282	ORPHA:2510
25782	RAB3GAP2	HP:0000347	Micrognathia	-	OMIM:212720
25782	RAB3GAP2	HP:0000347	Micrognathia	HP:0040282	ORPHA:1387
25782	RAB3GAP2	HP:0000327	Hypoplasia of the maxilla	1/1	OMIM:212720
25782	RAB3GAP2	HP:0000322	Short philtrum	2/2	OMIM:212720
25782	RAB3GAP2	HP:0000322	Short philtrum	HP:0040281	ORPHA:1387
25782	RAB3GAP2	HP:0000322	Short philtrum	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0001635	Congestive heart failure	-	OMIM:212720
25782	RAB3GAP2	HP:0001638	Cardiomyopathy	-	OMIM:212720
25782	RAB3GAP2	HP:0007965	Undetectable visual evoked potentials	-	OMIM:614225
25782	RAB3GAP2	HP:0000400	Macrotia	1/1	OMIM:614225
25782	RAB3GAP2	HP:0000400	Macrotia	HP:0040282	ORPHA:2510
25782	RAB3GAP2	HP:0005280	Depressed nasal bridge	-	OMIM:212720
25782	RAB3GAP2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1387
25782	RAB3GAP2	HP:0000486	Strabismus	1/2	OMIM:212720
25782	RAB3GAP2	HP:0000480	Retinal coloboma	HP:0040283	ORPHA:2510
25782	RAB3GAP2	HP:0000482	Microcornea	-	OMIM:614225
25782	RAB3GAP2	HP:0000482	Microcornea	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0000494	Downslanted palpebral fissures	-	OMIM:212720
25782	RAB3GAP2	HP:0000490	Deeply set eye	1/1	OMIM:614225
25782	RAB3GAP2	HP:0000463	Anteverted nares	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0012447	Abnormal myelination	HP:0040282	ORPHA:401830
25782	RAB3GAP2	HP:0000455	Broad nasal tip	-	OMIM:212720
25782	RAB3GAP2	HP:0001763	Pes planus	3/3	OMIM:212720
25782	RAB3GAP2	HP:0001762	Talipes equinovarus	-	OMIM:212720
25782	RAB3GAP2	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0000426	Prominent nasal bridge	1/1	OMIM:614225
25782	RAB3GAP2	HP:0005484	Secondary microcephaly	-	OMIM:614225
25782	RAB3GAP2	HP:0000518	Cataract	2/2	OMIM:212720
25782	RAB3GAP2	HP:0000518	Cataract	HP:0040281	ORPHA:1387
25782	RAB3GAP2	HP:0000518	Cataract	1/1	OMIM:614225
25782	RAB3GAP2	HP:0000518	Cataract	HP:0040282	ORPHA:401830
25782	RAB3GAP2	HP:0000518	Cataract	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0000519	Developmental cataract	1/1	OMIM:212720
25782	RAB3GAP2	HP:0000519	Developmental cataract	-	OMIM:614225
25782	RAB3GAP2	HP:0001845	Overlapping toe	-	OMIM:614225
25782	RAB3GAP2	HP:0001840	Metatarsus adductus	-	OMIM:212720
25782	RAB3GAP2	HP:0001831	Short toe	-	OMIM:212720
25782	RAB3GAP2	HP:0000568	Microphthalmia	1/1	OMIM:212720
25782	RAB3GAP2	HP:0000568	Microphthalmia	1/1	OMIM:614225
25782	RAB3GAP2	HP:0000568	Microphthalmia	HP:0040281	ORPHA:2510
25782	RAB3GAP2	HP:0001864	Clinodactyly of the 5th toe	1/1	OMIM:614225
25788	RAD54B	HP:0002665	Lymphoma	-	OMIM:605027
25788	RAD54B	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
25788	RAD54B	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
25788	RAD54B	HP:0005584	Renal cell carcinoma	-	OMIM:114500
25788	RAD54B	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
25788	RAD54B	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
25788	RAD54B	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
25788	RAD54B	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
25790	CFAP45	HP:0002566	Intestinal malrotation	1/3	OMIM:619608
25790	CFAP45	HP:0000007	Autosomal recessive inheritance	-	OMIM:619608
25790	CFAP45	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
25790	CFAP45	HP:0010445	Primum atrial septal defect	1/3	OMIM:619608
25790	CFAP45	HP:0003577	Congenital onset	1/3	OMIM:619608
25790	CFAP45	HP:0002247	Duodenal atresia	1/3	OMIM:619608
25790	CFAP45	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
25790	CFAP45	HP:0034011	Reduced progressive sperm motility	1/1	OMIM:619608
25790	CFAP45	HP:0004467	Preauricular pit	-	OMIM:187500
25790	CFAP45	HP:0011577	Partial atrioventricular canal defect	1/3	OMIM:619608
25790	CFAP45	HP:0033036	Decreased nasal nitric oxide	0/2	OMIM:619608
25790	CFAP45	HP:0000389	Chronic otitis media	2/3	OMIM:619608
25790	CFAP45	HP:0001696	Situs inversus totalis	3/3	OMIM:619608
25790	CFAP45	HP:0000337	Broad forehead	-	OMIM:187500
25790	CFAP45	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
25790	CFAP45	HP:0011109	Chronic sinusitis	2/2	OMIM:619608
25790	CFAP45	HP:0031590	Asthenopia	1/1	OMIM:619608
25790	CFAP45	HP:0001748	Polysplenia	1/3	OMIM:619608
25790	CFAP45	HP:0000520	Proptosis	-	OMIM:187500
25792	CIZ1	HP:0025269	Panic attack	HP:0040283	ORPHA:420492
25792	CIZ1	HP:0001272	Cerebellar atrophy	HP:0040284	ORPHA:420492
25792	CIZ1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:420492
25792	CIZ1	HP:0002530	Axial dystonia	HP:0040282	ORPHA:420492
25792	CIZ1	HP:0001336	Myoclonus	HP:0040282	ORPHA:420492
25792	CIZ1	HP:0012179	Craniofacial dystonia	HP:0040282	ORPHA:420492
25792	CIZ1	HP:0002120	Cerebral cortical atrophy	HP:0040284	ORPHA:420492
25792	CIZ1	HP:0200085	Limb tremor	HP:0040282	ORPHA:420492
25792	CIZ1	HP:0002356	Writer's cramp	HP:0040282	ORPHA:420492
25792	CIZ1	HP:0002346	Head tremor	HP:0040282	ORPHA:420492
25792	CIZ1	HP:0002317	Unsteady gait	HP:0040282	ORPHA:420492
25792	CIZ1	HP:0004373	Focal dystonia	HP:0040282	ORPHA:420492
25792	CIZ1	HP:0012893	Neck muscle hypertrophy	HP:0040282	ORPHA:420492
25792	CIZ1	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:420492
25792	CIZ1	HP:0002883	Hyperventilation	HP:0040283	ORPHA:420492
25792	CIZ1	HP:0001618	Dysphonia	HP:0040282	ORPHA:420492
25792	CIZ1	HP:0000473	Torticollis	HP:0040282	ORPHA:420492
25793	FBXO7	HP:0007256	Abnormal pyramidal sign	HP:0040280	ORPHA:171695
25793	FBXO7	HP:0001249	Intellectual disability	2/2	OMIM:260300
25793	FBXO7	HP:0001260	Dysarthria	12/12	OMIM:260300
25793	FBXO7	HP:0001257	Spasticity	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	2/2	OMIM:260300
25793	FBXO7	HP:0001347	Hyperreflexia	10/10	OMIM:260300
25793	FBXO7	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0001332	Dystonia	-	OMIM:260300
25793	FBXO7	HP:0001332	Dystonia	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0000011	Neurogenic bladder	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0000007	Autosomal recessive inheritance	-	OMIM:260300
25793	FBXO7	HP:0001336	Myoclonus	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0001300	Parkinsonism	HP:0040280	ORPHA:171695
25793	FBXO7	HP:0001300	Parkinsonism	3/10	OMIM:260300
25793	FBXO7	HP:0002015	Dysphagia	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0002080	Intention tremor	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0002067	Bradykinesia	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0002067	Bradykinesia	5/12	OMIM:260300
25793	FBXO7	HP:0002063	Rigidity	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0002063	Rigidity	5/12	OMIM:260300
25793	FBXO7	HP:0002061	Lower limb spasticity	10/10	OMIM:260300
25793	FBXO7	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:260300
25793	FBXO7	HP:0002141	Gait imbalance	2/2	OMIM:260300
25793	FBXO7	HP:0003487	Babinski sign	0/1	OMIM:260300
25793	FBXO7	HP:0003487	Babinski sign	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0002172	Postural instability	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0002172	Postural instability	12/12	OMIM:260300
25793	FBXO7	HP:0011960	Substantia nigra gliosis	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0002367	Visual hallucination	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0002362	Shuffling gait	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0003677	Slowly progressive	-	OMIM:260300
25793	FBXO7	HP:0002322	Resting tremor	1/2	OMIM:260300
25793	FBXO7	HP:0003621	Juvenile onset	2/2	OMIM:260300
25793	FBXO7	HP:0000726	Dementia	HP:0040283	ORPHA:171695
25793	FBXO7	HP:0011463	Childhood onset	10/10	OMIM:260300
25793	FBXO7	HP:0100315	Lewy bodies	HP:0040283	ORPHA:171695
25793	FBXO7	HP:0031435	Monotonic speech	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0031435	Monotonic speech	2/9	OMIM:260300
25793	FBXO7	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0000338	Hypomimic face	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0000338	Hypomimic face	3/10	OMIM:260300
25793	FBXO7	HP:0012407	Scissor gait	10/11	OMIM:260300
25793	FBXO7	HP:0001762	Talipes equinovarus	10/10	OMIM:260300
25793	FBXO7	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0000514	Slow saccadic eye movements	HP:0040282	ORPHA:171695
25793	FBXO7	HP:0000514	Slow saccadic eye movements	-	OMIM:260300
25794	FSCN2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
25794	FSCN2	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
25794	FSCN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
25794	FSCN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
25794	FSCN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:607921
25794	FSCN2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
25794	FSCN2	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
25794	FSCN2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
25794	FSCN2	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
25794	FSCN2	HP:0003621	Juvenile onset	8/19	OMIM:180100
25794	FSCN2	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
25794	FSCN2	HP:0000648	Optic atrophy	-	OMIM:607921
25794	FSCN2	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
25794	FSCN2	HP:0000618	Blindness	HP:0040281	ORPHA:791
25794	FSCN2	HP:0000613	Photophobia	HP:0040281	ORPHA:791
25794	FSCN2	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
25794	FSCN2	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
25794	FSCN2	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
25794	FSCN2	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
25794	FSCN2	HP:0000662	Nyctalopia	-	OMIM:607921
25794	FSCN2	HP:0000662	Nyctalopia	26/28	OMIM:180100
25794	FSCN2	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
25794	FSCN2	HP:0011463	Childhood onset	3/19	OMIM:180100
25794	FSCN2	HP:0011462	Young adult onset	8/19	OMIM:180100
25794	FSCN2	HP:0030786	Photopsia	HP:0040283	ORPHA:791
25794	FSCN2	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
25794	FSCN2	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
25794	FSCN2	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
25794	FSCN2	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
25794	FSCN2	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
25794	FSCN2	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
25794	FSCN2	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:607921
25794	FSCN2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
25794	FSCN2	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
25794	FSCN2	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:607921
25794	FSCN2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
25794	FSCN2	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
25794	FSCN2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
25794	FSCN2	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
25794	FSCN2	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
25794	FSCN2	HP:0000510	Rod-cone dystrophy	-	OMIM:607921
25794	FSCN2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
25794	FSCN2	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
25794	FSCN2	HP:0000505	Visual impairment	-	OMIM:607921
25794	FSCN2	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
25794	FSCN2	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
25794	FSCN2	HP:0000575	Scotoma	5/18	OMIM:180100
25794	FSCN2	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
25794	FSCN2	HP:0000533	Chorioretinal atrophy	-	OMIM:607921
25794	FSCN2	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
25794	FSCN2	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
25794	FSCN2	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
25794	FSCN2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
25794	FSCN2	HP:0000545	Myopia	-	OMIM:180100
25802	LMOD1	HP:0010956	Fetal megacystis	1/1	OMIM:619362
25802	LMOD1	HP:0100806	Sepsis	1/1	OMIM:619362
25802	LMOD1	HP:0100806	Sepsis	HP:0040283	ORPHA:2241
25802	LMOD1	HP:0002566	Intestinal malrotation	HP:0040282	ORPHA:2241
25802	LMOD1	HP:0003811	Neonatal death	1/1	OMIM:619362
25802	LMOD1	HP:0000072	Hydroureter	1/1	OMIM:619362
25802	LMOD1	HP:0000072	Hydroureter	HP:0040282	ORPHA:2241
25802	LMOD1	HP:0000021	Megacystis	HP:0040281	ORPHA:2241
25802	LMOD1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2241
25802	LMOD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619362
25802	LMOD1	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:2241
25802	LMOD1	HP:0000126	Hydronephrosis	1/1	OMIM:619362
25802	LMOD1	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:2241
25802	LMOD1	HP:0100544	Neoplasm of the heart	HP:0040283	ORPHA:2241
25802	LMOD1	HP:0100771	Hypoperistalsis	HP:0040281	ORPHA:2241
25802	LMOD1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2241
25802	LMOD1	HP:0004388	Microcolon	HP:0040281	ORPHA:2241
25802	LMOD1	HP:0004388	Microcolon	1/1	OMIM:619362
25802	LMOD1	HP:0034198	Second trimester onset	1/1	OMIM:619362
25802	LMOD1	HP:0003270	Abdominal distention	1/1	OMIM:619362
25802	LMOD1	HP:0003270	Abdominal distention	HP:0040281	ORPHA:2241
25802	LMOD1	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:2241
25802	LMOD1	HP:0001561	Polyhydramnios	1/1	OMIM:619362
25802	LMOD1	HP:0001522	Death in infancy	HP:0040283	ORPHA:2241
25802	LMOD1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2241
25802	LMOD1	HP:0001539	Omphalocele	HP:0040283	ORPHA:2241
25802	LMOD1	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040282	ORPHA:2241
25802	LMOD1	HP:0001627	Abnormal heart morphology	0/1	OMIM:619362
25814	ATXN10	HP:0007289	Limb fasciculations	1/2	OMIM:603516
25814	ATXN10	HP:0007256	Abnormal pyramidal sign	-	OMIM:603516
25814	ATXN10	HP:0003743	Genetic anticipation	-	OMIM:603516
25814	ATXN10	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:98761
25814	ATXN10	HP:0001272	Cerebellar atrophy	1/2	OMIM:603516
25814	ATXN10	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:98761
25814	ATXN10	HP:0001271	Polyneuropathy	2/2	OMIM:603516
25814	ATXN10	HP:0001250	Seizure	-	OMIM:603516
25814	ATXN10	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:98761
25814	ATXN10	HP:0001260	Dysarthria	2/2	OMIM:603516
25814	ATXN10	HP:0001260	Dysarthria	HP:0040281	ORPHA:98761
25814	ATXN10	HP:0003829	Typified by incomplete penetrance	-	OMIM:603516
25814	ATXN10	HP:0000020	Urinary incontinence	-	OMIM:603516
25814	ATXN10	HP:0001347	Hyperreflexia	-	OMIM:603516
25814	ATXN10	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:98761
25814	ATXN10	HP:0000012	Urinary urgency	HP:0040283	ORPHA:98761
25814	ATXN10	HP:0000012	Urinary urgency	-	OMIM:603516
25814	ATXN10	HP:0000006	Autosomal dominant inheritance	-	OMIM:603516
25814	ATXN10	HP:0001310	Dysmetria	HP:0040282	ORPHA:98761
25814	ATXN10	HP:0001310	Dysmetria	-	OMIM:603516
25814	ATXN10	HP:0002015	Dysphagia	-	OMIM:603516
25814	ATXN10	HP:0002080	Intention tremor	HP:0040282	ORPHA:98761
25814	ATXN10	HP:0002067	Bradykinesia	1/2	OMIM:603516
25814	ATXN10	HP:0002066	Gait ataxia	HP:0040281	ORPHA:98761
25814	ATXN10	HP:0002066	Gait ataxia	2/2	OMIM:603516
25814	ATXN10	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:98761
25814	ATXN10	HP:0002062	Abnormal pyramidal tract morphology	-	OMIM:603516
25814	ATXN10	HP:0002075	Dysdiadochokinesis	HP:0040282	ORPHA:98761
25814	ATXN10	HP:0002075	Dysdiadochokinesis	-	OMIM:603516
25814	ATXN10	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:98761
25814	ATXN10	HP:0002073	Progressive cerebellar ataxia	-	OMIM:603516
25814	ATXN10	HP:0002070	Limb ataxia	2/2	OMIM:603516
25814	ATXN10	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:603516
25814	ATXN10	HP:0002141	Gait imbalance	HP:0040282	ORPHA:98761
25814	ATXN10	HP:0003487	Babinski sign	1/2	OMIM:603516
25814	ATXN10	HP:0003487	Babinski sign	HP:0040283	ORPHA:98761
25814	ATXN10	HP:0002133	Status epilepticus	HP:0040283	ORPHA:98761
25814	ATXN10	HP:0002197	Generalized-onset seizure	HP:0040282	ORPHA:98761
25814	ATXN10	HP:0002168	Scanning speech	HP:0040282	ORPHA:98761
25814	ATXN10	HP:0002168	Scanning speech	-	OMIM:603516
25814	ATXN10	HP:0003596	Middle age onset	1/2	OMIM:603516
25814	ATXN10	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:98761
25814	ATXN10	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:98761
25814	ATXN10	HP:0002317	Unsteady gait	HP:0040282	ORPHA:98761
25814	ATXN10	HP:0100660	Dyskinesia	HP:0040282	ORPHA:98761
25814	ATXN10	HP:0002311	Incoordination	-	OMIM:603516
25814	ATXN10	HP:0000640	Gaze-evoked nystagmus	HP:0040282	ORPHA:98761
25814	ATXN10	HP:0000639	Nystagmus	HP:0040282	ORPHA:98761
25814	ATXN10	HP:0000639	Nystagmus	-	OMIM:603516
25814	ATXN10	HP:0000762	Decreased nerve conduction velocity	-	OMIM:603516
25814	ATXN10	HP:0000741	Apathy	HP:0040283	ORPHA:98761
25814	ATXN10	HP:0000716	Depression	HP:0040283	ORPHA:98761
25814	ATXN10	HP:0000716	Depression	-	OMIM:603516
25814	ATXN10	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:98761
25814	ATXN10	HP:0000726	Dementia	-	OMIM:603516
25814	ATXN10	HP:0011462	Young adult onset	1/2	OMIM:603516
25814	ATXN10	HP:0007772	Impaired smooth pursuit	HP:0040282	ORPHA:98761
25814	ATXN10	HP:0007772	Impaired smooth pursuit	1/2	OMIM:603516
25814	ATXN10	HP:0030186	Kinetic tremor	HP:0040282	ORPHA:98761
25814	ATXN10	HP:0002936	Distal sensory impairment	1/2	OMIM:603516
25814	ATXN10	HP:0011198	EEG with generalized epileptiform discharges	HP:0040282	ORPHA:98761
25814	ATXN10	HP:0011153	Focal motor seizure	HP:0040283	ORPHA:98761
25821	MTO1	HP:0002465	Poor speech	-	OMIM:614702
25821	MTO1	HP:0001250	Seizure	HP:0040283	OMIM:614702
25821	MTO1	HP:0001252	Hypotonia	1/3	OMIM:614702
25821	MTO1	HP:0001263	Global developmental delay	-	OMIM:614702
25821	MTO1	HP:0001257	Spasticity	HP:0040283	OMIM:614702
25821	MTO1	HP:0001332	Dystonia	HP:0040283	OMIM:614702
25821	MTO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614702
25821	MTO1	HP:0003348	Hyperalaninemia	HP:0040283	OMIM:614702
25821	MTO1	HP:0002151	Increased circulating lactate concentration	3/3	OMIM:614702
25821	MTO1	HP:0011924	Decreased activity of mitochondrial complex III	1/3	OMIM:614702
25821	MTO1	HP:0003593	Infantile onset	1/3	OMIM:614702
25821	MTO1	HP:0003577	Congenital onset	2/3	OMIM:614702
25821	MTO1	HP:0002202	Pleural effusion	1/3	OMIM:614702
25821	MTO1	HP:0011968	Feeding difficulties	1/3	OMIM:614702
25821	MTO1	HP:0000648	Optic atrophy	1/3	OMIM:614702
25821	MTO1	HP:0001943	Hypoglycemia	1/3	OMIM:614702
25821	MTO1	HP:0001942	Metabolic acidosis	3/3	OMIM:614702
25821	MTO1	HP:0001987	Hyperammonemia	1/3	OMIM:614702
25821	MTO1	HP:0003128	Lactic acidosis	3/3	OMIM:614702
25821	MTO1	HP:0001562	Oligohydramnios	2/3	OMIM:614702
25821	MTO1	HP:0001541	Ascites	1/3	OMIM:614702
25821	MTO1	HP:0001508	Failure to thrive	-	OMIM:614702
25821	MTO1	HP:0001518	Small for gestational age	-	OMIM:614702
25821	MTO1	HP:0001511	Intrauterine growth retardation	2/3	OMIM:614702
25821	MTO1	HP:0001698	Pericardial effusion	1/3	OMIM:614702
25821	MTO1	HP:0001662	Bradycardia	3/3	OMIM:614702
25821	MTO1	HP:0001640	Cardiomegaly	1/3	OMIM:614702
25821	MTO1	HP:0001639	Hypertrophic cardiomyopathy	2/3	OMIM:614702
25828	TXN2	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:478029
25828	TXN2	HP:0002490	Increased CSF lactate	-	OMIM:616811
25828	TXN2	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:478029
25828	TXN2	HP:0001138	Optic neuropathy	-	OMIM:616811
25828	TXN2	HP:0002416	Subependymal cysts	-	OMIM:616811
25828	TXN2	HP:0002416	Subependymal cysts	HP:0040281	ORPHA:478029
25828	TXN2	HP:0003739	Myoclonic spasms	HP:0040281	ORPHA:478029
25828	TXN2	HP:0001290	Generalized hypotonia	-	OMIM:616811
25828	TXN2	HP:0001272	Cerebellar atrophy	-	OMIM:616811
25828	TXN2	HP:0001250	Seizure	-	OMIM:616811
25828	TXN2	HP:0002579	Gastrointestinal dysmotility	HP:0040281	ORPHA:478029
25828	TXN2	HP:0001263	Global developmental delay	-	OMIM:616811
25828	TXN2	HP:0001257	Spasticity	-	OMIM:616811
25828	TXN2	HP:0003808	Abnormal muscle tone	HP:0040281	ORPHA:478029
25828	TXN2	HP:0001332	Dystonia	-	OMIM:616811
25828	TXN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616811
25828	TXN2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040281	ORPHA:478029
25828	TXN2	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:478029
25828	TXN2	HP:0002151	Increased circulating lactate concentration	-	OMIM:616811
25828	TXN2	HP:0011924	Decreased activity of mitochondrial complex III	HP:0040281	ORPHA:478029
25828	TXN2	HP:0011924	Decreased activity of mitochondrial complex III	-	OMIM:616811
25828	TXN2	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040281	ORPHA:478029
25828	TXN2	HP:0011923	Decreased activity of mitochondrial complex I	-	OMIM:616811
25828	TXN2	HP:0002188	Delayed CNS myelination	-	OMIM:616811
25828	TXN2	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:478029
25828	TXN2	HP:0003593	Infantile onset	-	OMIM:616811
25828	TXN2	HP:0003577	Congenital onset	-	OMIM:616811
25828	TXN2	HP:0002283	Global brain atrophy	HP:0040281	ORPHA:478029
25828	TXN2	HP:0002283	Global brain atrophy	-	OMIM:616811
25828	TXN2	HP:0011968	Feeding difficulties	-	OMIM:616811
25828	TXN2	HP:0002370	Poor coordination	HP:0040281	ORPHA:478029
25828	TXN2	HP:0003676	Progressive	-	OMIM:616811
25828	TXN2	HP:0009830	Peripheral neuropathy	-	OMIM:616811
25828	TXN2	HP:0000648	Optic atrophy	-	OMIM:616811
25828	TXN2	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:478029
25828	TXN2	HP:0011344	Severe global developmental delay	-	OMIM:616811
25828	TXN2	HP:0011451	Primary microcephaly	HP:0040281	ORPHA:478029
25828	TXN2	HP:0040078	Axonal degeneration	HP:0040281	ORPHA:478029
25828	TXN2	HP:0040078	Axonal degeneration	-	OMIM:616811
25828	TXN2	HP:0030884	Gastrojejunal tube feeding in infancy	HP:0040281	ORPHA:478029
25828	TXN2	HP:0100275	Diffuse cerebellar atrophy	HP:0040281	ORPHA:478029
25828	TXN2	HP:0000252	Microcephaly	-	OMIM:616811
25828	TXN2	HP:0002922	Increased CSF protein concentration	HP:0040281	ORPHA:478029
25828	TXN2	HP:0002922	Increased CSF protein concentration	-	OMIM:616811
25828	TXN2	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040281	ORPHA:478029
25828	TXN2	HP:0000488	Retinopathy	HP:0040281	ORPHA:478029
25828	TXN2	HP:0000488	Retinopathy	-	OMIM:616811
25828	TXN2	HP:0012448	Delayed myelination	HP:0040281	ORPHA:478029
25836	NIPBL	HP:0001156	Brachydactyly	3/11	OMIM:122470
25836	NIPBL	HP:0001159	Syndactyly	5/12	OMIM:122470
25836	NIPBL	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:199
25836	NIPBL	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:199
25836	NIPBL	HP:0003745	Sporadic	-	OMIM:122470
25836	NIPBL	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
25836	NIPBL	HP:0001293	Cranial nerve compression	-	OMIM:131300
25836	NIPBL	HP:0001276	Hypertonia	2/2	OMIM:122470
25836	NIPBL	HP:0001276	Hypertonia	HP:0040281	ORPHA:199
25836	NIPBL	HP:0001270	Motor delay	7/7	OMIM:122470
25836	NIPBL	HP:0001250	Seizure	12/37	OMIM:122470
25836	NIPBL	HP:0001250	Seizure	HP:0040283	ORPHA:199
25836	NIPBL	HP:0002580	Volvulus	HP:0040283	ORPHA:199
25836	NIPBL	HP:0001252	Hypotonia	1/11	OMIM:122470
25836	NIPBL	HP:0001252	Hypotonia	HP:0040283	ORPHA:199
25836	NIPBL	HP:0001252	Hypotonia	2/7	OMIM:615777
25836	NIPBL	HP:0001249	Intellectual disability	34/40	OMIM:122470
25836	NIPBL	HP:0001249	Intellectual disability	HP:0040281	ORPHA:199
25836	NIPBL	HP:0001249	Intellectual disability	5/7	OMIM:615777
25836	NIPBL	HP:0001263	Global developmental delay	42/46	OMIM:122470
25836	NIPBL	HP:0001263	Global developmental delay	-	OMIM:615777
25836	NIPBL	HP:0002557	Hypoplastic nipples	HP:0040282	ORPHA:199
25836	NIPBL	HP:0002557	Hypoplastic nipples	-	OMIM:122470
25836	NIPBL	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:199
25836	NIPBL	HP:0008743	Coronal hypospadias	1/1	OMIM:122470
25836	NIPBL	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:199
25836	NIPBL	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:199
25836	NIPBL	HP:0002553	Highly arched eyebrow	36/38	OMIM:122470
25836	NIPBL	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:199
25836	NIPBL	HP:0002515	Waddling gait	54/102	OMIM:131300
25836	NIPBL	HP:0000089	Renal hypoplasia	HP:0040283	OMIM:122470
25836	NIPBL	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:199
25836	NIPBL	HP:0000086	Ectopic kidney	-	OMIM:122470
25836	NIPBL	HP:0000085	Horseshoe kidney	1/11	OMIM:122470
25836	NIPBL	HP:0000093	Proteinuria	HP:0040283	OMIM:122470
25836	NIPBL	HP:0000059	Hypoplastic labia majora	HP:0040282	ORPHA:199
25836	NIPBL	HP:0000059	Hypoplastic labia majora	1/11	OMIM:122470
25836	NIPBL	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:199
25836	NIPBL	HP:0000076	Vesicoureteral reflux	HP:0040283	OMIM:122470
25836	NIPBL	HP:0001377	Limited elbow extension	12/34	OMIM:122470
25836	NIPBL	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:199
25836	NIPBL	HP:0001387	Joint stiffness	HP:0040282	ORPHA:199
25836	NIPBL	HP:0001382	Joint hypermobility	-	OMIM:615777
25836	NIPBL	HP:0000050	Hypoplastic male external genitalia	-	OMIM:122470
25836	NIPBL	HP:0000047	Hypospadias	1/3	OMIM:122470
25836	NIPBL	HP:0000047	Hypospadias	HP:0040282	ORPHA:199
25836	NIPBL	HP:0000023	Inguinal hernia	1/6	OMIM:122470
25836	NIPBL	HP:0002694	Sclerosis of skull base	-	OMIM:131300
25836	NIPBL	HP:0000028	Cryptorchidism	15/25	OMIM:122470
25836	NIPBL	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:199
25836	NIPBL	HP:0008897	Postnatal growth retardation	29/30	OMIM:122470
25836	NIPBL	HP:0008897	Postnatal growth retardation	-	OMIM:615777
25836	NIPBL	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199
25836	NIPBL	HP:0008850	Severe postnatal growth retardation	HP:0040282	ORPHA:199
25836	NIPBL	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
25836	NIPBL	HP:0001324	Muscle weakness	40/96	OMIM:131300
25836	NIPBL	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
25836	NIPBL	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
25836	NIPBL	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:199
25836	NIPBL	HP:0000006	Autosomal dominant inheritance	-	OMIM:122470
25836	NIPBL	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
25836	NIPBL	HP:0003997	Hypoplastic radial head	-	OMIM:122470
25836	NIPBL	HP:0002650	Scoliosis	12/14	OMIM:131300
25836	NIPBL	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
25836	NIPBL	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
25836	NIPBL	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
25836	NIPBL	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
25836	NIPBL	HP:0012165	Oligodactyly	HP:0040283	ORPHA:199
25836	NIPBL	HP:0012165	Oligodactyly	12/53	OMIM:122470
25836	NIPBL	HP:0000175	Cleft palate	7/46	OMIM:122470
25836	NIPBL	HP:0000175	Cleft palate	2/7	OMIM:615777
25836	NIPBL	HP:0000175	Cleft palate	HP:0040283	ORPHA:199
25836	NIPBL	HP:0007678	Lacrimal duct stenosis	3/5	OMIM:122470
25836	NIPBL	HP:0007665	Curly eyelashes	HP:0040281	ORPHA:199
25836	NIPBL	HP:0007665	Curly eyelashes	33/39	OMIM:122470
25836	NIPBL	HP:0410030	Cleft lip	0/25	OMIM:122470
25836	NIPBL	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:199
25836	NIPBL	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:199
25836	NIPBL	HP:0000126	Hydronephrosis	1/1	OMIM:122470
25836	NIPBL	HP:0000107	Renal cyst	1/11	OMIM:122470
25836	NIPBL	HP:0031228	Abnormal incisura morphology	-	OMIM:122470
25836	NIPBL	HP:0002750	Delayed skeletal maturation	-	OMIM:122470
25836	NIPBL	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:199
25836	NIPBL	HP:0002714	Downturned corners of mouth	34/42	OMIM:122470
25836	NIPBL	HP:0002714	Downturned corners of mouth	HP:0040281	ORPHA:199
25836	NIPBL	HP:0002023	Anal atresia	1/2	OMIM:122470
25836	NIPBL	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:199
25836	NIPBL	HP:0002021	Pyloric stenosis	-	OMIM:122470
25836	NIPBL	HP:0002020	Gastroesophageal reflux	25/40	OMIM:122470
25836	NIPBL	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:199
25836	NIPBL	HP:0002036	Hiatus hernia	-	OMIM:122470
25836	NIPBL	HP:0002033	Poor suck	1/1	OMIM:122470
25836	NIPBL	HP:0004691	2-3 toe syndactyly	-	OMIM:122470
25836	NIPBL	HP:0002090	Pneumonia	-	OMIM:122470
25836	NIPBL	HP:0003388	Easy fatigability	36/76	OMIM:131300
25836	NIPBL	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
25836	NIPBL	HP:0004785	Malrotation of colon	-	OMIM:122470
25836	NIPBL	HP:0002120	Cerebral cortical atrophy	1/11	OMIM:122470
25836	NIPBL	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:199
25836	NIPBL	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:199
25836	NIPBL	HP:0009623	Proximal placement of thumb	HP:0040281	ORPHA:199
25836	NIPBL	HP:0009623	Proximal placement of thumb	20/47	OMIM:122470
25836	NIPBL	HP:0002188	Delayed CNS myelination	1/1	OMIM:122470
25836	NIPBL	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:199
25836	NIPBL	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:199
25836	NIPBL	HP:0002162	Low posterior hairline	3/5	OMIM:122470
25836	NIPBL	HP:0003593	Infantile onset	2/2	OMIM:122470
25836	NIPBL	HP:0003577	Congenital onset	6/6	OMIM:122470
25836	NIPBL	HP:0100716	Self-injurious behavior	13/21	OMIM:122470
25836	NIPBL	HP:0002230	Generalized hirsutism	HP:0040281	ORPHA:199
25836	NIPBL	HP:0007018	Attention deficit hyperactivity disorder	16/19	OMIM:122470
25836	NIPBL	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:199
25836	NIPBL	HP:0011968	Feeding difficulties	11/19	OMIM:122470
25836	NIPBL	HP:0003510	Severe short stature	7/7	OMIM:615777
25836	NIPBL	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:199
25836	NIPBL	HP:0001007	Hirsutism	39/56	OMIM:122470
25836	NIPBL	HP:0002315	Headache	-	OMIM:131300
25836	NIPBL	HP:0004976	Knee dislocation	6/7	OMIM:615777
25836	NIPBL	HP:0009829	Phocomelia	1/34	OMIM:122470
25836	NIPBL	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:199
25836	NIPBL	HP:0009803	Short phalanx of finger	-	OMIM:615777
25836	NIPBL	HP:0200055	Small hand	HP:0040281	ORPHA:199
25836	NIPBL	HP:0200055	Small hand	27/52	OMIM:122470
25836	NIPBL	HP:0009763	Limb pain	63/92	OMIM:131300
25836	NIPBL	HP:0003621	Juvenile onset	-	OMIM:131300
25836	NIPBL	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
25836	NIPBL	HP:0004209	Clinodactyly of the 5th finger	23/39	OMIM:122470
25836	NIPBL	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:199
25836	NIPBL	HP:0010066	Duplication of phalanx of hallux	1/8	OMIM:122470
25836	NIPBL	HP:0005565	Reduced renal corticomedullary differentiation	-	OMIM:122470
25836	NIPBL	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
25836	NIPBL	HP:0000639	Nystagmus	-	OMIM:122470
25836	NIPBL	HP:0000639	Nystagmus	HP:0040283	ORPHA:199
25836	NIPBL	HP:6001056	Out-toeing	-	OMIM:131300
25836	NIPBL	HP:0000651	Diplopia	-	OMIM:131300
25836	NIPBL	HP:0000648	Optic atrophy	-	OMIM:122470
25836	NIPBL	HP:0001956	Truncal obesity	HP:0040283	ORPHA:199
25836	NIPBL	HP:0001956	Truncal obesity	2/7	OMIM:615777
25836	NIPBL	HP:0001903	Anemia	HP:0040283	OMIM:131300
25836	NIPBL	HP:0010049	Short metacarpal	-	OMIM:615777
25836	NIPBL	HP:0010034	Short 1st metacarpal	HP:0040281	ORPHA:199
25836	NIPBL	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:199
25836	NIPBL	HP:0000684	Delayed eruption of teeth	-	OMIM:122470
25836	NIPBL	HP:0000678	Dental crowding	-	OMIM:615777
25836	NIPBL	HP:0000687	Widely spaced teeth	HP:0040281	ORPHA:199
25836	NIPBL	HP:0000687	Widely spaced teeth	9/32	OMIM:122470
25836	NIPBL	HP:0000670	Carious teeth	-	OMIM:131300
25836	NIPBL	HP:0011304	Broad thumb	2/7	OMIM:615777
25836	NIPBL	HP:0000668	Hypodontia	-	OMIM:615777
25836	NIPBL	HP:0000667	Phthisis bulbi	HP:0040282	ORPHA:199
25836	NIPBL	HP:0000664	Synophrys	46/49	OMIM:122470
25836	NIPBL	HP:0000664	Synophrys	-	OMIM:615777
25836	NIPBL	HP:0000664	Synophrys	HP:0040281	ORPHA:199
25836	NIPBL	HP:0004322	Short stature	33/38	OMIM:122470
25836	NIPBL	HP:0004322	Short stature	HP:0040281	ORPHA:199
25836	NIPBL	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:199
25836	NIPBL	HP:0003083	Dislocated radial head	-	OMIM:122470
25836	NIPBL	HP:0004383	Hypoplastic left heart	0/24	OMIM:122470
25836	NIPBL	HP:0004396	Poor appetite	-	OMIM:131300
25836	NIPBL	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
25836	NIPBL	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
25836	NIPBL	HP:0003042	Elbow dislocation	HP:0040282	ORPHA:199
25836	NIPBL	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
25836	NIPBL	HP:0003026	Short long bone	7/7	OMIM:615777
25836	NIPBL	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
25836	NIPBL	HP:0000767	Pectus excavatum	2/7	OMIM:615777
25836	NIPBL	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:199
25836	NIPBL	HP:0000768	Pectus carinatum	1/7	OMIM:615777
25836	NIPBL	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
25836	NIPBL	HP:0000739	Anxiety	14/19	OMIM:122470
25836	NIPBL	HP:0000739	Anxiety	HP:0040282	ORPHA:199
25836	NIPBL	HP:0000733	Motor stereotypy	2/2	OMIM:122470
25836	NIPBL	HP:0000750	Delayed speech and language development	29/35	OMIM:122470
25836	NIPBL	HP:0000750	Delayed speech and language development	-	OMIM:615777
25836	NIPBL	HP:0000718	Aggressive behavior	11/19	OMIM:122470
25836	NIPBL	HP:0000717	Autism	HP:0040283	ORPHA:199
25836	NIPBL	HP:0000729	Autistic behavior	9/25	OMIM:122470
25836	NIPBL	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:199
25836	NIPBL	HP:0011461	Fetal onset	7/7	OMIM:615777
25836	NIPBL	HP:0000774	Narrow chest	2/7	OMIM:615777
25836	NIPBL	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:199
25836	NIPBL	HP:0000776	Congenital diaphragmatic hernia	1/30	OMIM:122470
25836	NIPBL	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:199
25836	NIPBL	HP:0003196	Short nose	9/11	OMIM:122470
25836	NIPBL	HP:0003196	Short nose	HP:0040281	ORPHA:199
25836	NIPBL	HP:0000926	Platyspondyly	1/7	OMIM:615777
25836	NIPBL	HP:0003180	Flat acetabular roof	-	OMIM:615777
25836	NIPBL	HP:0004482	Relative macrocephaly	-	OMIM:615777
25836	NIPBL	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
25836	NIPBL	HP:0000879	Short sternum	-	OMIM:122470
25836	NIPBL	HP:0000823	Delayed puberty	-	OMIM:131300
25836	NIPBL	HP:0000823	Delayed puberty	HP:0040283	ORPHA:199
25836	NIPBL	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:199
25836	NIPBL	HP:0000894	Short clavicles	-	OMIM:615777
25836	NIPBL	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
25836	NIPBL	HP:0010300	Abnormally low-pitched voice	HP:0040281	ORPHA:199
25836	NIPBL	HP:0000954	Single transverse palmar crease	20/32	OMIM:122470
25836	NIPBL	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
25836	NIPBL	HP:0000965	Cutis marmorata	HP:0040282	ORPHA:199
25836	NIPBL	HP:0000965	Cutis marmorata	4/6	OMIM:122470
25836	NIPBL	HP:0005815	Supernumerary ribs	-	OMIM:122470
25836	NIPBL	HP:0009380	Finger aplasia	-	OMIM:122470
25836	NIPBL	HP:0000286	Epicanthus	1/7	OMIM:615777
25836	NIPBL	HP:0000280	Coarse facial features	2/7	OMIM:615777
25836	NIPBL	HP:0000294	Low anterior hairline	HP:0040281	ORPHA:199
25836	NIPBL	HP:0000294	Low anterior hairline	12/16	OMIM:122470
25836	NIPBL	HP:0002827	Hip dislocation	3/7	OMIM:615777
25836	NIPBL	HP:0002827	Hip dislocation	HP:0040283	ORPHA:199
25836	NIPBL	HP:0030084	Clinodactyly	3/11	OMIM:122470
25836	NIPBL	HP:0000252	Microcephaly	39/46	OMIM:122470
25836	NIPBL	HP:0000252	Microcephaly	HP:0040281	ORPHA:199
25836	NIPBL	HP:0000252	Microcephaly	-	OMIM:615777
25836	NIPBL	HP:0000248	Brachycephaly	4/5	OMIM:122470
25836	NIPBL	HP:0000248	Brachycephaly	HP:0040281	ORPHA:199
25836	NIPBL	HP:0000219	Thin upper lip vermilion	36/44	OMIM:122470
25836	NIPBL	HP:0000218	High palate	12/47	OMIM:122470
25836	NIPBL	HP:0000218	High palate	HP:0040281	ORPHA:199
25836	NIPBL	HP:0001545	Anteriorly placed anus	1/12	OMIM:122470
25836	NIPBL	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:199
25836	NIPBL	HP:0001557	Prenatal movement abnormality	HP:0040283	ORPHA:199
25836	NIPBL	HP:0002857	Genu valgum	-	OMIM:131300
25836	NIPBL	HP:0001533	Slender build	-	OMIM:131300
25836	NIPBL	HP:0000204	Cleft upper lip	-	OMIM:122470
25836	NIPBL	HP:0001508	Failure to thrive	HP:0040282	ORPHA:199
25836	NIPBL	HP:0001511	Intrauterine growth retardation	39/52	OMIM:122470
25836	NIPBL	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
25836	NIPBL	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:199
25836	NIPBL	HP:0007807	Optic nerve compression	-	OMIM:131300
25836	NIPBL	HP:0012385	Camptodactyly	1/11	OMIM:122470
25836	NIPBL	HP:0012368	Flat face	7/7	OMIM:615777
25836	NIPBL	HP:0000388	Otitis media	-	OMIM:122470
25836	NIPBL	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
25836	NIPBL	HP:0001612	Weak cry	1/1	OMIM:122470
25836	NIPBL	HP:0000365	Hearing impairment	6/23	OMIM:122470
25836	NIPBL	HP:0000365	Hearing impairment	10/67	OMIM:131300
25836	NIPBL	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:199
25836	NIPBL	HP:0000369	Low-set ears	9/19	OMIM:122470
25836	NIPBL	HP:0000341	Narrow forehead	1/7	OMIM:122470
25836	NIPBL	HP:0000343	Long philtrum	37/46	OMIM:122470
25836	NIPBL	HP:0000343	Long philtrum	1/7	OMIM:615777
25836	NIPBL	HP:0000343	Long philtrum	HP:0040281	ORPHA:199
25836	NIPBL	HP:0011001	Increased bone mineral density	-	OMIM:131300
25836	NIPBL	HP:0000347	Micrognathia	27/46	OMIM:122470
25836	NIPBL	HP:0000347	Micrognathia	HP:0040281	ORPHA:199
25836	NIPBL	HP:0002983	Micromelia	HP:0040281	ORPHA:199
25836	NIPBL	HP:0002983	Micromelia	-	OMIM:122470
25836	NIPBL	HP:0000319	Smooth philtrum	15/19	OMIM:122470
25836	NIPBL	HP:0001647	Bicuspid aortic valve	0/24	OMIM:122470
25836	NIPBL	HP:0001643	Patent ductus arteriosus	0/1	OMIM:122470
25836	NIPBL	HP:0000311	Round face	2/7	OMIM:615777
25836	NIPBL	HP:0001642	Pulmonic stenosis	6/41	OMIM:122470
25836	NIPBL	HP:0002974	Radioulnar synostosis	HP:0040282	ORPHA:199
25836	NIPBL	HP:0030148	Heart murmur	5/11	OMIM:122470
25836	NIPBL	HP:0002987	Elbow flexion contracture	-	OMIM:122470
25836	NIPBL	HP:0002984	Hypoplasia of the radius	-	OMIM:122470
25836	NIPBL	HP:0001655	Patent foramen ovale	2/18	OMIM:122470
25836	NIPBL	HP:0001629	Ventricular septal defect	3/42	OMIM:122470
25836	NIPBL	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:199
25836	NIPBL	HP:0001622	Premature birth	HP:0040282	ORPHA:199
25836	NIPBL	HP:0001640	Cardiomegaly	1/19	OMIM:122470
25836	NIPBL	HP:0002970	Genu varum	-	OMIM:615777
25836	NIPBL	HP:0001636	Tetralogy of Fallot	1/24	OMIM:122470
25836	NIPBL	HP:0001631	Atrial septal defect	2/24	OMIM:122470
25836	NIPBL	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:199
25836	NIPBL	HP:0000303	Mandibular prognathia	-	OMIM:131300
25836	NIPBL	HP:0000498	Blepharitis	HP:0040282	ORPHA:199
25836	NIPBL	HP:0000407	Sensorineural hearing impairment	10/25	OMIM:122470
25836	NIPBL	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:199
25836	NIPBL	HP:0000405	Conductive hearing impairment	-	OMIM:122470
25836	NIPBL	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:199
25836	NIPBL	HP:0000400	Macrotia	HP:0040283	ORPHA:199
25836	NIPBL	HP:0005280	Depressed nasal bridge	30/43	OMIM:122470
25836	NIPBL	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
25836	NIPBL	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:199
25836	NIPBL	HP:0000483	Astigmatism	-	OMIM:122470
25836	NIPBL	HP:0000486	Strabismus	-	OMIM:122470
25836	NIPBL	HP:0000486	Strabismus	HP:0040283	ORPHA:199
25836	NIPBL	HP:0000482	Microcornea	HP:0040282	ORPHA:199
25836	NIPBL	HP:0000482	Microcornea	-	OMIM:122470
25836	NIPBL	HP:0000463	Anteverted nares	32/41	OMIM:122470
25836	NIPBL	HP:0000463	Anteverted nares	HP:0040281	ORPHA:199
25836	NIPBL	HP:0011120	Concave nasal ridge	4/5	OMIM:122470
25836	NIPBL	HP:0000455	Broad nasal tip	6/7	OMIM:122470
25836	NIPBL	HP:0000470	Short neck	14/24	OMIM:122470
25836	NIPBL	HP:0000470	Short neck	1/7	OMIM:615777
25836	NIPBL	HP:0000470	Short neck	HP:0040281	ORPHA:199
25836	NIPBL	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:199
25836	NIPBL	HP:0001770	Toe syndactyly	3/7	OMIM:122470
25836	NIPBL	HP:0001773	Short foot	HP:0040281	ORPHA:199
25836	NIPBL	HP:0001773	Short foot	6/6	OMIM:122470
25836	NIPBL	HP:0001769	Broad foot	HP:0040283	OMIM:615777
25836	NIPBL	HP:0001763	Pes planus	1/7	OMIM:615777
25836	NIPBL	HP:0000453	Choanal atresia	HP:0040283	ORPHA:199
25836	NIPBL	HP:0000453	Choanal atresia	-	OMIM:122470
25836	NIPBL	HP:0000413	Atresia of the external auditory canal	HP:0040281	ORPHA:199
25836	NIPBL	HP:0000518	Cataract	HP:0040283	ORPHA:199
25836	NIPBL	HP:0001840	Metatarsus adductus	-	OMIM:615777
25836	NIPBL	HP:0000527	Long eyelashes	HP:0040281	ORPHA:199
25836	NIPBL	HP:0000527	Long eyelashes	42/44	OMIM:122470
25836	NIPBL	HP:0000520	Proptosis	2/4	OMIM:131300
25836	NIPBL	HP:0000520	Proptosis	-	OMIM:122470
25836	NIPBL	HP:0000520	Proptosis	7/7	OMIM:615777
25836	NIPBL	HP:0000508	Ptosis	3/32	OMIM:122470
25836	NIPBL	HP:0000508	Ptosis	HP:0040282	ORPHA:199
25836	NIPBL	HP:0000501	Glaucoma	HP:0040283	ORPHA:199
25836	NIPBL	HP:0000592	Blue sclerae	2/7	OMIM:615777
25836	NIPBL	HP:0000588	Optic disc coloboma	-	OMIM:122470
25836	NIPBL	HP:0000574	Thick eyebrow	9/9	OMIM:122470
25836	NIPBL	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:199
25836	NIPBL	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
25836	NIPBL	HP:0001883	Talipes	HP:0040283	ORPHA:199
25836	NIPBL	HP:0012514	Lower limb pain	4/4	OMIM:131300
25836	NIPBL	HP:0001873	Thrombocytopenia	-	OMIM:122470
25836	NIPBL	HP:0000545	Myopia	5/26	OMIM:122470
25836	NIPBL	HP:0000545	Myopia	HP:0040282	ORPHA:199
25839	COG4	HP:0009882	Short distal phalanx of finger	12/14	OMIM:618150
25839	COG4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
25839	COG4	HP:0001293	Cranial nerve compression	-	OMIM:131300
25839	COG4	HP:0001270	Motor delay	12/14	OMIM:618150
25839	COG4	HP:0001250	Seizure	HP:0040283	OMIM:613489
25839	COG4	HP:0001252	Hypotonia	2/7	OMIM:615777
25839	COG4	HP:0001251	Ataxia	HP:0040282	ORPHA:263501
25839	COG4	HP:0001251	Ataxia	-	OMIM:613489
25839	COG4	HP:0001249	Intellectual disability	5/7	OMIM:615777
25839	COG4	HP:0001263	Global developmental delay	HP:0040282	ORPHA:263501
25839	COG4	HP:0001263	Global developmental delay	1/1	OMIM:613489
25839	COG4	HP:0001263	Global developmental delay	-	OMIM:618150
25839	COG4	HP:0001263	Global developmental delay	-	OMIM:615777
25839	COG4	HP:0100874	Thick hair	HP:0040282	ORPHA:263501
25839	COG4	HP:0100874	Thick hair	1/1	OMIM:613489
25839	COG4	HP:0002515	Waddling gait	54/102	OMIM:131300
25839	COG4	HP:0002509	Limb hypertonia	HP:0040282	ORPHA:263501
25839	COG4	HP:0002509	Limb hypertonia	1/1	OMIM:613489
25839	COG4	HP:0001399	Hepatic failure	HP:0040283	OMIM:613489
25839	COG4	HP:0001394	Cirrhosis	HP:0040282	ORPHA:263501
25839	COG4	HP:0001394	Cirrhosis	HP:0040283	OMIM:613489
25839	COG4	HP:0001382	Joint hypermobility	-	OMIM:615777
25839	COG4	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:263501
25839	COG4	HP:0001347	Hyperreflexia	1/1	OMIM:613489
25839	COG4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
25839	COG4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
25839	COG4	HP:0008897	Postnatal growth retardation	14/14	OMIM:618150
25839	COG4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
25839	COG4	HP:0001324	Muscle weakness	40/96	OMIM:131300
25839	COG4	HP:0001344	Absent speech	HP:0040282	ORPHA:263501
25839	COG4	HP:0001344	Absent speech	1/1	OMIM:613489
25839	COG4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
25839	COG4	HP:0002673	Coxa valga	13/13	OMIM:618150
25839	COG4	HP:0000007	Autosomal recessive inheritance	-	OMIM:613489
25839	COG4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
25839	COG4	HP:0000006	Autosomal dominant inheritance	-	OMIM:618150
25839	COG4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
25839	COG4	HP:0002650	Scoliosis	12/14	OMIM:131300
25839	COG4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
25839	COG4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
25839	COG4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
25839	COG4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
25839	COG4	HP:0000175	Cleft palate	2/7	OMIM:615777
25839	COG4	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:263501
25839	COG4	HP:0008936	Axial hypotonia	1/1	OMIM:613489
25839	COG4	HP:0008935	Generalized neonatal hypotonia	HP:0040282	ORPHA:263501
25839	COG4	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:263501
25839	COG4	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:263501
25839	COG4	HP:0002028	Chronic diarrhea	HP:0040283	OMIM:613489
25839	COG4	HP:0002007	Frontal bossing	HP:0040281	ORPHA:85172
25839	COG4	HP:0003311	Hypoplasia of the odontoid process	13/13	OMIM:618150
25839	COG4	HP:0003311	Hypoplasia of the odontoid process	HP:0040281	ORPHA:85172
25839	COG4	HP:0003301	Irregular vertebral endplates	11/13	OMIM:618150
25839	COG4	HP:0003396	Syringomyelia	1/4	OMIM:618150
25839	COG4	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:263501
25839	COG4	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	OMIM:613489
25839	COG4	HP:0002059	Cerebral atrophy	-	OMIM:613489
25839	COG4	HP:0003388	Easy fatigability	36/76	OMIM:131300
25839	COG4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
25839	COG4	HP:0002119	Ventriculomegaly	5/10	OMIM:618150
25839	COG4	HP:0004798	Recurrent infection of the gastrointestinal tract	HP:0040283	ORPHA:263501
25839	COG4	HP:0004798	Recurrent infection of the gastrointestinal tract	HP:0040283	OMIM:613489
25839	COG4	HP:0002176	Spinal cord compression	3/7	OMIM:618150
25839	COG4	HP:0011833	Overhanging nasal tip	HP:0040281	ORPHA:85172
25839	COG4	HP:0010580	Enlarged epiphyses	13/13	OMIM:618150
25839	COG4	HP:0003593	Infantile onset	1/1	OMIM:613489
25839	COG4	HP:0003577	Congenital onset	14/14	OMIM:618150
25839	COG4	HP:0002240	Hepatomegaly	HP:0040283	OMIM:613489
25839	COG4	HP:0002254	Intermittent diarrhea	HP:0040282	ORPHA:263501
25839	COG4	HP:0002205	Recurrent respiratory infections	1/1	OMIM:613489
25839	COG4	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:263501
25839	COG4	HP:0011968	Feeding difficulties	HP:0040283	OMIM:613489
25839	COG4	HP:0003510	Severe short stature	7/7	OMIM:615777
25839	COG4	HP:0001015	Prominent superficial veins	14/14	OMIM:618150
25839	COG4	HP:0002315	Headache	-	OMIM:131300
25839	COG4	HP:0004976	Knee dislocation	6/7	OMIM:615777
25839	COG4	HP:0009803	Short phalanx of finger	-	OMIM:615777
25839	COG4	HP:0200055	Small hand	HP:0040281	ORPHA:85172
25839	COG4	HP:0010743	Short metatarsal	13/13	OMIM:618150
25839	COG4	HP:0009763	Limb pain	63/92	OMIM:131300
25839	COG4	HP:0003621	Juvenile onset	-	OMIM:131300
25839	COG4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
25839	COG4	HP:0004279	Short palm	HP:0040281	ORPHA:85172
25839	COG4	HP:0006892	Frontotemporal cerebral atrophy	HP:0040282	ORPHA:263501
25839	COG4	HP:0006892	Frontotemporal cerebral atrophy	1/1	OMIM:613489
25839	COG4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
25839	COG4	HP:0000639	Nystagmus	HP:0040282	ORPHA:263501
25839	COG4	HP:0000639	Nystagmus	HP:0040283	OMIM:613489
25839	COG4	HP:6001056	Out-toeing	-	OMIM:131300
25839	COG4	HP:0000651	Diplopia	-	OMIM:131300
25839	COG4	HP:0001956	Truncal obesity	2/7	OMIM:615777
25839	COG4	HP:0001903	Anemia	HP:0040283	OMIM:131300
25839	COG4	HP:0010049	Short metacarpal	-	OMIM:615777
25839	COG4	HP:0010049	Short metacarpal	13/13	OMIM:618150
25839	COG4	HP:0000678	Dental crowding	-	OMIM:615777
25839	COG4	HP:0000662	Nyctalopia	6/9	OMIM:618150
25839	COG4	HP:0000670	Carious teeth	-	OMIM:131300
25839	COG4	HP:0011304	Broad thumb	2/7	OMIM:615777
25839	COG4	HP:0000668	Hypodontia	-	OMIM:615777
25839	COG4	HP:0001999	Abnormal facial shape	HP:0040283	OMIM:613489
25839	COG4	HP:0000664	Synophrys	-	OMIM:615777
25839	COG4	HP:0004322	Short stature	14/14	OMIM:618150
25839	COG4	HP:0004322	Short stature	HP:0040281	ORPHA:85172
25839	COG4	HP:0009193	Metacarpal pseudoepiphysis	11/12	OMIM:618150
25839	COG4	HP:0003067	Madelung deformity	5/13	OMIM:618150
25839	COG4	HP:0004396	Poor appetite	-	OMIM:131300
25839	COG4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
25839	COG4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
25839	COG4	HP:0003015	Flared metaphysis	13/13	OMIM:618150
25839	COG4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
25839	COG4	HP:0003026	Short long bone	7/7	OMIM:615777
25839	COG4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
25839	COG4	HP:0000767	Pectus excavatum	-	OMIM:618150
25839	COG4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
25839	COG4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
25839	COG4	HP:0000768	Pectus carinatum	-	OMIM:618150
25839	COG4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
25839	COG4	HP:0000737	Irritability	HP:0040282	ORPHA:263501
25839	COG4	HP:0000737	Irritability	1/1	OMIM:613489
25839	COG4	HP:0000750	Delayed speech and language development	8/11	OMIM:618150
25839	COG4	HP:0000750	Delayed speech and language development	-	OMIM:615777
25839	COG4	HP:0011461	Fetal onset	7/7	OMIM:615777
25839	COG4	HP:0000774	Narrow chest	2/7	OMIM:615777
25839	COG4	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:263501
25839	COG4	HP:0000926	Platyspondyly	1/7	OMIM:615777
25839	COG4	HP:0000926	Platyspondyly	7/13	OMIM:618150
25839	COG4	HP:0000926	Platyspondyly	HP:0040281	ORPHA:85172
25839	COG4	HP:0003180	Flat acetabular roof	-	OMIM:615777
25839	COG4	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:263501
25839	COG4	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:613489
25839	COG4	HP:0004482	Relative macrocephaly	-	OMIM:615777
25839	COG4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
25839	COG4	HP:0000823	Delayed puberty	-	OMIM:131300
25839	COG4	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	12/12	OMIM:618150
25839	COG4	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	HP:0040281	ORPHA:85172
25839	COG4	HP:0000894	Short clavicles	-	OMIM:615777
25839	COG4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
25839	COG4	HP:0003256	Abnormality of the coagulation cascade	HP:0040282	ORPHA:263501
25839	COG4	HP:0004582	Irregularity of vertebral bodies	HP:0040281	ORPHA:85172
25839	COG4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
25839	COG4	HP:0040187	Neonatal sepsis	HP:0040283	ORPHA:263501
25839	COG4	HP:0000286	Epicanthus	1/7	OMIM:615777
25839	COG4	HP:0000280	Coarse facial features	2/7	OMIM:615777
25839	COG4	HP:0000260	Wide anterior fontanel	12/12	OMIM:618150
25839	COG4	HP:0000272	Malar flattening	HP:0040281	ORPHA:85172
25839	COG4	HP:0006442	Hypoplasia of proximal fibula	9/11	OMIM:618150
25839	COG4	HP:0002827	Hip dislocation	3/7	OMIM:615777
25839	COG4	HP:0006391	Overtubulated long bones	13/13	OMIM:618150
25839	COG4	HP:0000252	Microcephaly	HP:0040282	ORPHA:263501
25839	COG4	HP:0000252	Microcephaly	1/1	OMIM:613489
25839	COG4	HP:0000252	Microcephaly	HP:0040281	ORPHA:85172
25839	COG4	HP:0000252	Microcephaly	-	OMIM:615777
25839	COG4	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:263501
25839	COG4	HP:0002857	Genu valgum	-	OMIM:131300
25839	COG4	HP:0001533	Slender build	-	OMIM:131300
25839	COG4	HP:0001508	Failure to thrive	HP:0040283	OMIM:613489
25839	COG4	HP:0001511	Intrauterine growth retardation	-	OMIM:618150
25839	COG4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
25839	COG4	HP:0001510	Growth delay	HP:0040282	ORPHA:263501
25839	COG4	HP:0007807	Optic nerve compression	-	OMIM:131300
25839	COG4	HP:0012368	Flat face	7/7	OMIM:615777
25839	COG4	HP:0012358	Abnormal protein O-linked glycosylation	HP:0040281	ORPHA:263501
25839	COG4	HP:0006583	Fatal liver failure in infancy	HP:0040283	ORPHA:263501
25839	COG4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
25839	COG4	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:263501
25839	COG4	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:613489
25839	COG4	HP:0000365	Hearing impairment	11/14	OMIM:618150
25839	COG4	HP:0000365	Hearing impairment	10/67	OMIM:131300
25839	COG4	HP:0012347	Abnormal protein N-linked glycosylation	HP:0040281	ORPHA:263501
25839	COG4	HP:0000340	Sloping forehead	HP:0040282	ORPHA:263501
25839	COG4	HP:0000343	Long philtrum	1/7	OMIM:615777
25839	COG4	HP:0011001	Increased bone mineral density	-	OMIM:131300
25839	COG4	HP:0000347	Micrognathia	12/14	OMIM:618150
25839	COG4	HP:0012301	Type II transferrin isoform profile	HP:0040282	ORPHA:263501
25839	COG4	HP:0012301	Type II transferrin isoform profile	1/1	OMIM:613489
25839	COG4	HP:0000311	Round face	2/7	OMIM:615777
25839	COG4	HP:0002970	Genu varum	-	OMIM:615777
25839	COG4	HP:0000303	Mandibular prognathia	-	OMIM:131300
25839	COG4	HP:0011172	Complex febrile seizure	HP:0040282	ORPHA:263501
25839	COG4	HP:0005328	Progeroid facial appearance	8/14	OMIM:618150
25839	COG4	HP:0000407	Sensorineural hearing impairment	2/14	OMIM:618150
25839	COG4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
25839	COG4	HP:0000470	Short neck	1/7	OMIM:615777
25839	COG4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
25839	COG4	HP:0001763	Pes planus	1/7	OMIM:615777
25839	COG4	HP:0000444	Convex nasal ridge	6/14	OMIM:618150
25839	COG4	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:85172
25839	COG4	HP:0000446	Narrow nasal bridge	8/14	OMIM:618150
25839	COG4	HP:0000446	Narrow nasal bridge	HP:0040281	ORPHA:85172
25839	COG4	HP:0001744	Splenomegaly	HP:0040283	OMIM:613489
25839	COG4	HP:0001762	Talipes equinovarus	10/14	OMIM:618150
25839	COG4	HP:0001762	Talipes equinovarus	HP:0040281	ORPHA:85172
25839	COG4	HP:0000518	Cataract	11/13	OMIM:618150
25839	COG4	HP:0000518	Cataract	HP:0040281	ORPHA:85172
25839	COG4	HP:0001840	Metatarsus adductus	-	OMIM:615777
25839	COG4	HP:0000520	Proptosis	2/4	OMIM:131300
25839	COG4	HP:0000520	Proptosis	7/7	OMIM:615777
25839	COG4	HP:0000520	Proptosis	13/14	OMIM:618150
25839	COG4	HP:0000520	Proptosis	HP:0040281	ORPHA:85172
25839	COG4	HP:0000592	Blue sclerae	2/7	OMIM:615777
25839	COG4	HP:0000592	Blue sclerae	9/14	OMIM:618150
25839	COG4	HP:0011220	Prominent forehead	14/14	OMIM:618150
25839	COG4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
25839	COG4	HP:0012514	Lower limb pain	4/4	OMIM:131300
25839	COG4	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:263501
25839	COG4	HP:0001875	Decreased total neutrophil count	11/14	OMIM:618150
25861	WHRN	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
25861	WHRN	HP:0008555	Absent vestibular function	0/4	OMIM:607084
25861	WHRN	HP:0001251	Ataxia	HP:0040283	ORPHA:231178
25861	WHRN	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:231178
25861	WHRN	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
25861	WHRN	HP:0000007	Autosomal recessive inheritance	-	OMIM:611383
25861	WHRN	HP:0000007	Autosomal recessive inheritance	-	OMIM:607084
25861	WHRN	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
25861	WHRN	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:231178
25861	WHRN	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
25861	WHRN	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
25861	WHRN	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:231178
25861	WHRN	HP:0003577	Congenital onset	4/4	OMIM:607084
25861	WHRN	HP:0003577	Congenital onset	2/2	OMIM:611383
25861	WHRN	HP:0100753	Schizophrenia	HP:0040283	ORPHA:231178
25861	WHRN	HP:0003621	Juvenile onset	8/19	OMIM:180100
25861	WHRN	HP:0000639	Nystagmus	HP:0040283	ORPHA:231178
25861	WHRN	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:231178
25861	WHRN	HP:0000691	Microdontia	HP:0040283	ORPHA:231178
25861	WHRN	HP:0000662	Nyctalopia	HP:0040281	ORPHA:231178
25861	WHRN	HP:0000662	Nyctalopia	26/28	OMIM:180100
25861	WHRN	HP:0000662	Nyctalopia	2/2	OMIM:611383
25861	WHRN	HP:0000670	Carious teeth	HP:0040283	ORPHA:231178
25861	WHRN	HP:0000738	Hallucinations	HP:0040283	ORPHA:231178
25861	WHRN	HP:0000739	Anxiety	HP:0040283	ORPHA:231178
25861	WHRN	HP:0000716	Depression	HP:0040283	ORPHA:231178
25861	WHRN	HP:0011463	Childhood onset	3/19	OMIM:180100
25861	WHRN	HP:0011462	Young adult onset	8/19	OMIM:180100
25861	WHRN	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
25861	WHRN	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:231178
25861	WHRN	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
25861	WHRN	HP:0011073	Abnormality of dental color	HP:0040283	ORPHA:231178
25861	WHRN	HP:0012377	Hemianopia	HP:0040281	ORPHA:231178
25861	WHRN	HP:0000365	Hearing impairment	2/2	OMIM:611383
25861	WHRN	HP:0000359	Abnormality of the inner ear	HP:0040281	ORPHA:231178
25861	WHRN	HP:0000407	Sensorineural hearing impairment	4/4	OMIM:607084
25861	WHRN	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:231178
25861	WHRN	HP:0001751	Abnormal vestibular function	0/2	OMIM:611383
25861	WHRN	HP:0000518	Cataract	HP:0040282	ORPHA:231178
25861	WHRN	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
25861	WHRN	HP:0000510	Rod-cone dystrophy	2/2	OMIM:611383
25861	WHRN	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:231178
25861	WHRN	HP:0000575	Scotoma	5/18	OMIM:180100
25861	WHRN	HP:0000575	Scotoma	HP:0040281	ORPHA:231178
25861	WHRN	HP:0000572	Visual loss	HP:0040281	ORPHA:231178
25861	WHRN	HP:0000543	Optic disc pallor	1/1	OMIM:180100
25861	WHRN	HP:0000545	Myopia	-	OMIM:180100
25861	WHRN	HP:0000545	Myopia	HP:0040282	ORPHA:231178
25871	RMP64	HP:0001156	Brachydactyly	4/4	OMIM:618853
25871	RMP64	HP:0009890	High anterior hairline	3/3	OMIM:618853
25871	RMP64	HP:0001290	Generalized hypotonia	4/5	OMIM:618853
25871	RMP64	HP:0001270	Motor delay	4/5	OMIM:618853
25871	RMP64	HP:0001263	Global developmental delay	4/5	OMIM:618853
25871	RMP64	HP:0001382	Joint hypermobility	5/5	OMIM:618853
25871	RMP64	HP:0001357	Plagiocephaly	2/2	OMIM:618853
25871	RMP64	HP:0000007	Autosomal recessive inheritance	-	OMIM:618853
25871	RMP64	HP:0002020	Gastroesophageal reflux	3/5	OMIM:618853
25871	RMP64	HP:0011800	Midface retrusion	2/3	OMIM:618853
25871	RMP64	HP:0003423	Thoracolumbar kyphoscoliosis	2/2	OMIM:618853
25871	RMP64	HP:0002176	Spinal cord compression	1/5	OMIM:618853
25871	RMP64	HP:0002209	Sparse scalp hair	3/3	OMIM:618853
25871	RMP64	HP:0002205	Recurrent respiratory infections	2/5	OMIM:618853
25871	RMP64	HP:0011968	Feeding difficulties	2/3	OMIM:618853
25871	RMP64	HP:0003510	Severe short stature	5/5	OMIM:618853
25871	RMP64	HP:0009844	Broad middle phalanx of finger	5/5	OMIM:618853
25871	RMP64	HP:0010049	Short metacarpal	5/5	OMIM:618853
25871	RMP64	HP:0000677	Oligodontia	1/2	OMIM:618853
25871	RMP64	HP:0003021	Metaphyseal cupping	4/4	OMIM:618853
25871	RMP64	HP:0000767	Pectus excavatum	3/3	OMIM:618853
25871	RMP64	HP:0000774	Narrow chest	2/3	OMIM:618853
25871	RMP64	HP:0000926	Platyspondyly	4/5	OMIM:618853
25871	RMP64	HP:0003177	Squared iliac bones	3/4	OMIM:618853
25871	RMP64	HP:0004568	Beaking of vertebral bodies	2/5	OMIM:618853
25871	RMP64	HP:0000973	Cutis laxa	5/5	OMIM:618853
25871	RMP64	HP:0005819	Short middle phalanx of finger	5/5	OMIM:618853
25871	RMP64	HP:0000278	Retrognathia	1/1	OMIM:618853
25871	RMP64	HP:0000260	Wide anterior fontanel	2/4	OMIM:618853
25871	RMP64	HP:0002857	Genu valgum	1/1	OMIM:618853
25871	RMP64	HP:0030043	Hip subluxation	1/5	OMIM:618853
25871	RMP64	HP:0002980	Femoral bowing	3/4	OMIM:618853
25871	RMP64	HP:0005280	Depressed nasal bridge	1/3	OMIM:618853
25871	RMP64	HP:0001792	Small nail	1/1	OMIM:618853
25871	RMP64	HP:0004060	Trident hand	3/3	OMIM:618853
25871	RMP64	HP:0011229	Broad eyebrow	3/3	OMIM:618853
25885	POLR1A	HP:0009921	Duane anomaly	1/1	OMIM:616462
25885	POLR1A	HP:0009892	Anotia	1/3	OMIM:616462
25885	POLR1A	HP:0008551	Microtia	5/21	OMIM:616462
25885	POLR1A	HP:0002421	Poor head control	1/1	OMIM:620675
25885	POLR1A	HP:0002415	Leukodystrophy	4/4	OMIM:620675
25885	POLR1A	HP:0003764	Nevus	1/1	OMIM:616462
25885	POLR1A	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
25885	POLR1A	HP:0002410	Aqueductal stenosis	1/1	OMIM:616462
25885	POLR1A	HP:0001293	Cranial nerve compression	-	OMIM:131300
25885	POLR1A	HP:0001276	Hypertonia	1/1	OMIM:620675
25885	POLR1A	HP:0001272	Cerebellar atrophy	4/4	OMIM:620675
25885	POLR1A	HP:0001270	Motor delay	1/1	OMIM:616462
25885	POLR1A	HP:0002599	Head titubation	2/4	OMIM:620675
25885	POLR1A	HP:0001250	Seizure	2/4	OMIM:620675
25885	POLR1A	HP:0001250	Seizure	5/5	OMIM:616462
25885	POLR1A	HP:0001252	Hypotonia	1/4	OMIM:620675
25885	POLR1A	HP:0001252	Hypotonia	10/17	OMIM:616462
25885	POLR1A	HP:0001252	Hypotonia	2/7	OMIM:615777
25885	POLR1A	HP:0001249	Intellectual disability	3/3	OMIM:620675
25885	POLR1A	HP:0001249	Intellectual disability	0/1	OMIM:616462
25885	POLR1A	HP:0001249	Intellectual disability	5/7	OMIM:615777
25885	POLR1A	HP:0001263	Global developmental delay	4/4	OMIM:620675
25885	POLR1A	HP:0001263	Global developmental delay	8/14	OMIM:616462
25885	POLR1A	HP:0001263	Global developmental delay	-	OMIM:615777
25885	POLR1A	HP:0001257	Spasticity	3/3	OMIM:620675
25885	POLR1A	HP:0410263	Brain imaging abnormality	5/12	OMIM:616462
25885	POLR1A	HP:0007366	Atrophy/Degeneration affecting the brainstem	1/4	OMIM:620675
25885	POLR1A	HP:0008689	Bilateral cryptorchidism	1/1	OMIM:616462
25885	POLR1A	HP:0002515	Waddling gait	54/102	OMIM:131300
25885	POLR1A	HP:0002505	Loss of ambulation	1/1	OMIM:620675
25885	POLR1A	HP:0008807	Acetabular dysplasia	1/3	OMIM:616462
25885	POLR1A	HP:0012049	Laryngeal dystonia	1/1	OMIM:616462
25885	POLR1A	HP:0001382	Joint hypermobility	2/2	OMIM:620675
25885	POLR1A	HP:0001382	Joint hypermobility	-	OMIM:615777
25885	POLR1A	HP:0000023	Inguinal hernia	1/1	OMIM:616462
25885	POLR1A	HP:0001347	Hyperreflexia	4/4	OMIM:620675
25885	POLR1A	HP:0001363	Craniosynostosis	0/15	OMIM:616462
25885	POLR1A	HP:0002694	Sclerosis of skull base	-	OMIM:131300
25885	POLR1A	HP:0001362	Calvarial skull defect	1/1	OMIM:616462
25885	POLR1A	HP:0000028	Cryptorchidism	1/1	OMIM:616462
25885	POLR1A	HP:0008897	Postnatal growth retardation	-	OMIM:615777
25885	POLR1A	HP:0001332	Dystonia	4/4	OMIM:620675
25885	POLR1A	HP:0033725	Thin corpus callosum	4/4	OMIM:620675
25885	POLR1A	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
25885	POLR1A	HP:0001324	Muscle weakness	40/96	OMIM:131300
25885	POLR1A	HP:0001344	Absent speech	1/3	OMIM:620675
25885	POLR1A	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
25885	POLR1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:620675
25885	POLR1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
25885	POLR1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:616462
25885	POLR1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
25885	POLR1A	HP:0001336	Myoclonus	1/1	OMIM:616462
25885	POLR1A	HP:0001305	Dandy-Walker malformation	1/1	OMIM:616462
25885	POLR1A	HP:0002650	Scoliosis	1/2	OMIM:620675
25885	POLR1A	HP:0002650	Scoliosis	1/1	OMIM:616462
25885	POLR1A	HP:0002650	Scoliosis	12/14	OMIM:131300
25885	POLR1A	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
25885	POLR1A	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
25885	POLR1A	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
25885	POLR1A	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
25885	POLR1A	HP:0000175	Cleft palate	6/20	OMIM:616462
25885	POLR1A	HP:0000175	Cleft palate	2/7	OMIM:615777
25885	POLR1A	HP:0000174	Abnormal palate morphology	HP:0040283	ORPHA:1200
25885	POLR1A	HP:0410030	Cleft lip	2/17	OMIM:616462
25885	POLR1A	HP:0002786	Tracheobronchomalacia	1/1	OMIM:616462
25885	POLR1A	HP:0000126	Hydronephrosis	1/1	OMIM:616462
25885	POLR1A	HP:0002015	Dysphagia	1/1	OMIM:616462
25885	POLR1A	HP:0011800	Midface retrusion	2/3	OMIM:616462
25885	POLR1A	HP:0003396	Syringomyelia	1/1	OMIM:616462
25885	POLR1A	HP:0002066	Gait ataxia	1/4	OMIM:620675
25885	POLR1A	HP:0002061	Lower limb spasticity	1/1	OMIM:616462
25885	POLR1A	HP:0002078	Truncal ataxia	3/3	OMIM:620675
25885	POLR1A	HP:0002059	Cerebral atrophy	3/3	OMIM:620675
25885	POLR1A	HP:0003388	Easy fatigability	36/76	OMIM:131300
25885	POLR1A	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
25885	POLR1A	HP:0003487	Babinski sign	2/2	OMIM:620675
25885	POLR1A	HP:0002119	Ventriculomegaly	1/10	OMIM:616462
25885	POLR1A	HP:0002119	Ventriculomegaly	3/4	OMIM:620675
25885	POLR1A	HP:0003429	CNS hypomyelination	2/2	OMIM:620675
25885	POLR1A	HP:0003593	Infantile onset	1/2	OMIM:620675
25885	POLR1A	HP:0003593	Infantile onset	1/17	OMIM:616462
25885	POLR1A	HP:0003577	Congenital onset	3/4	OMIM:620675
25885	POLR1A	HP:0003577	Congenital onset	15/20	OMIM:616462
25885	POLR1A	HP:0200128	Biventricular hypertrophy	1/1	OMIM:616462
25885	POLR1A	HP:0200134	Epileptic encephalopathy	1/1	OMIM:616462
25885	POLR1A	HP:0011968	Feeding difficulties	1/4	OMIM:620675
25885	POLR1A	HP:0003510	Severe short stature	7/7	OMIM:615777
25885	POLR1A	HP:0002389	Cavum septum pellucidum	1/1	OMIM:616462
25885	POLR1A	HP:0001059	Pterygium	1/1	OMIM:616462
25885	POLR1A	HP:0002376	Developmental regression	1/16	OMIM:616462
25885	POLR1A	HP:0002376	Developmental regression	2/4	OMIM:620675
25885	POLR1A	HP:0002315	Headache	-	OMIM:131300
25885	POLR1A	HP:0004976	Knee dislocation	6/7	OMIM:615777
25885	POLR1A	HP:0010819	Atonic seizure	1/1	OMIM:616462
25885	POLR1A	HP:0009803	Short phalanx of finger	-	OMIM:615777
25885	POLR1A	HP:0009763	Limb pain	63/92	OMIM:131300
25885	POLR1A	HP:0003623	Neonatal onset	1/17	OMIM:616462
25885	POLR1A	HP:0004937	Pulmonary artery aneurysm	1/1	OMIM:616462
25885	POLR1A	HP:0003621	Juvenile onset	-	OMIM:131300
25885	POLR1A	HP:0004942	Aortic aneurysm	1/1	OMIM:616462
25885	POLR1A	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
25885	POLR1A	HP:0004209	Clinodactyly of the 5th finger	1/1	OMIM:616462
25885	POLR1A	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
25885	POLR1A	HP:0000639	Nystagmus	2/4	OMIM:620675
25885	POLR1A	HP:0000637	Long palpebral fissure	1/1	OMIM:616462
25885	POLR1A	HP:0000636	Upper eyelid coloboma	2/4	OMIM:616462
25885	POLR1A	HP:6001056	Out-toeing	-	OMIM:131300
25885	POLR1A	HP:0000651	Diplopia	-	OMIM:131300
25885	POLR1A	HP:0000648	Optic atrophy	2/4	OMIM:620675
25885	POLR1A	HP:0001956	Truncal obesity	2/7	OMIM:615777
25885	POLR1A	HP:0000605	Supranuclear gaze palsy	2/4	OMIM:620675
25885	POLR1A	HP:0001903	Anemia	HP:0040283	OMIM:131300
25885	POLR1A	HP:0010049	Short metacarpal	-	OMIM:615777
25885	POLR1A	HP:0011342	Mild global developmental delay	1/1	OMIM:616462
25885	POLR1A	HP:0000678	Dental crowding	-	OMIM:615777
25885	POLR1A	HP:0011330	Metopic synostosis	3/18	OMIM:616462
25885	POLR1A	HP:0000652	Lower eyelid coloboma	1/3	OMIM:616462
25885	POLR1A	HP:0000670	Carious teeth	-	OMIM:131300
25885	POLR1A	HP:0011304	Broad thumb	2/7	OMIM:615777
25885	POLR1A	HP:0000668	Hypodontia	2/7	OMIM:616462
25885	POLR1A	HP:0000668	Hypodontia	-	OMIM:615777
25885	POLR1A	HP:0001998	Neonatal hypoglycemia	1/4	OMIM:620675
25885	POLR1A	HP:0000664	Synophrys	-	OMIM:615777
25885	POLR1A	HP:0004325	Decreased body weight	1/3	OMIM:616462
25885	POLR1A	HP:0004322	Short stature	2/4	OMIM:620675
25885	POLR1A	HP:0004322	Short stature	1/3	OMIM:616462
25885	POLR1A	HP:0004322	Short stature	HP:0040283	ORPHA:1200
25885	POLR1A	HP:0004396	Poor appetite	-	OMIM:131300
25885	POLR1A	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
25885	POLR1A	HP:0034185	Median pseudocleft lip	1/1	OMIM:616462
25885	POLR1A	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
25885	POLR1A	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
25885	POLR1A	HP:0003026	Short long bone	7/7	OMIM:615777
25885	POLR1A	HP:0031936	Delayed ability to walk	2/2	OMIM:620675
25885	POLR1A	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
25885	POLR1A	HP:0012745	Short palpebral fissure	HP:0040281	ORPHA:1200
25885	POLR1A	HP:0000767	Pectus excavatum	2/7	OMIM:615777
25885	POLR1A	HP:0000768	Pectus carinatum	1/7	OMIM:615777
25885	POLR1A	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
25885	POLR1A	HP:0000737	Irritability	1/4	OMIM:620675
25885	POLR1A	HP:0000750	Delayed speech and language development	-	OMIM:615777
25885	POLR1A	HP:0012712	Mild hearing impairment	1/1	OMIM:616462
25885	POLR1A	HP:0011471	Gastrostomy tube feeding in infancy	2/2	OMIM:616462
25885	POLR1A	HP:0011463	Childhood onset	3/17	OMIM:616462
25885	POLR1A	HP:0011461	Fetal onset	7/7	OMIM:615777
25885	POLR1A	HP:0011443	Abnormality of coordination	1/16	OMIM:616462
25885	POLR1A	HP:0000774	Narrow chest	2/7	OMIM:615777
25885	POLR1A	HP:0009110	Diaphragmatic eventration	1/1	OMIM:616462
25885	POLR1A	HP:0004415	Pulmonary artery stenosis	1/1	OMIM:616462
25885	POLR1A	HP:0003196	Short nose	1/1	OMIM:616462
25885	POLR1A	HP:0003196	Short nose	HP:0040283	ORPHA:1200
25885	POLR1A	HP:0034260	Aplastic zygomatic arch	1/3	OMIM:616462
25885	POLR1A	HP:0000926	Platyspondyly	1/7	OMIM:615777
25885	POLR1A	HP:0003180	Flat acetabular roof	-	OMIM:615777
25885	POLR1A	HP:0004482	Relative macrocephaly	2/4	OMIM:620675
25885	POLR1A	HP:0004482	Relative macrocephaly	-	OMIM:615777
25885	POLR1A	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
25885	POLR1A	HP:0000823	Delayed puberty	-	OMIM:131300
25885	POLR1A	HP:0011577	Partial atrioventricular canal defect	1/1	OMIM:616462
25885	POLR1A	HP:0040064	Abnormality of limbs	6/17	OMIM:616462
25885	POLR1A	HP:0011569	Cleft anterior mitral valve leaflet	1/1	OMIM:616462
25885	POLR1A	HP:0000894	Short clavicles	-	OMIM:615777
25885	POLR1A	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
25885	POLR1A	HP:0004502	Bilateral choanal atresia	HP:0040281	ORPHA:1200
25885	POLR1A	HP:0004502	Bilateral choanal atresia	1/1	OMIM:616462
25885	POLR1A	HP:0034392	Joint contracture	2/16	OMIM:616462
25885	POLR1A	HP:0011639	Anomalous origin of right coronary artery from the pulmonary artery	1/1	OMIM:616462
25885	POLR1A	HP:0000954	Single transverse palmar crease	1/1	OMIM:616462
25885	POLR1A	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
25885	POLR1A	HP:0000286	Epicanthus	1/1	OMIM:616462
25885	POLR1A	HP:0000286	Epicanthus	1/7	OMIM:615777
25885	POLR1A	HP:0000280	Coarse facial features	2/7	OMIM:615777
25885	POLR1A	HP:0000278	Retrognathia	1/3	OMIM:616462
25885	POLR1A	HP:0000256	Macrocephaly	0/13	OMIM:616462
25885	POLR1A	HP:0002827	Hip dislocation	3/7	OMIM:615777
25885	POLR1A	HP:0000238	Hydrocephalus	1/1	OMIM:616462
25885	POLR1A	HP:0000252	Microcephaly	6/16	OMIM:616462
25885	POLR1A	HP:0000252	Microcephaly	-	OMIM:615777
25885	POLR1A	HP:0000218	High palate	1/1	OMIM:616462
25885	POLR1A	HP:0002857	Genu valgum	-	OMIM:131300
25885	POLR1A	HP:0001533	Slender build	-	OMIM:131300
25885	POLR1A	HP:0001508	Failure to thrive	1/1	OMIM:616462
25885	POLR1A	HP:0002835	Aspiration	1/1	OMIM:616462
25885	POLR1A	HP:0001518	Small for gestational age	2/4	OMIM:620675
25885	POLR1A	HP:0001511	Intrauterine growth retardation	3/14	OMIM:616462
25885	POLR1A	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
25885	POLR1A	HP:0007807	Optic nerve compression	-	OMIM:131300
25885	POLR1A	HP:0012368	Flat face	7/7	OMIM:615777
25885	POLR1A	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
25885	POLR1A	HP:0001605	Vocal cord paralysis	2/2	OMIM:616462
25885	POLR1A	HP:0001601	Laryngomalacia	1/1	OMIM:616462
25885	POLR1A	HP:0000365	Hearing impairment	2/2	OMIM:616462
25885	POLR1A	HP:0000365	Hearing impairment	10/67	OMIM:131300
25885	POLR1A	HP:0000369	Low-set ears	6/17	OMIM:616462
25885	POLR1A	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:1200
25885	POLR1A	HP:0000343	Long philtrum	1/7	OMIM:615777
25885	POLR1A	HP:0011001	Increased bone mineral density	-	OMIM:131300
25885	POLR1A	HP:0000337	Broad forehead	1/1	OMIM:616462
25885	POLR1A	HP:0000347	Micrognathia	9/21	OMIM:616462
25885	POLR1A	HP:0002980	Femoral bowing	1/3	OMIM:616462
25885	POLR1A	HP:0001647	Bicuspid aortic valve	1/1	OMIM:616462
25885	POLR1A	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1200
25885	POLR1A	HP:0000316	Hypertelorism	9/16	OMIM:616462
25885	POLR1A	HP:0001643	Patent ductus arteriosus	1/3	OMIM:616462
25885	POLR1A	HP:0000311	Round face	2/7	OMIM:615777
25885	POLR1A	HP:0000327	Hypoplasia of the maxilla	1/3	OMIM:616462
25885	POLR1A	HP:0000324	Facial asymmetry	3/18	OMIM:616462
25885	POLR1A	HP:0001655	Patent foramen ovale	4/14	OMIM:616462
25885	POLR1A	HP:0001629	Ventricular septal defect	3/14	OMIM:616462
25885	POLR1A	HP:0002970	Genu varum	-	OMIM:615777
25885	POLR1A	HP:0000303	Mandibular prognathia	-	OMIM:131300
25885	POLR1A	HP:0030307	Flared lower limb metaphysis	1/3	OMIM:616462
25885	POLR1A	HP:0000403	Recurrent otitis media	1/1	OMIM:616462
25885	POLR1A	HP:0000400	Macrotia	1/3	OMIM:616462
25885	POLR1A	HP:0005280	Depressed nasal bridge	1/1	OMIM:616462
25885	POLR1A	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
25885	POLR1A	HP:0000486	Strabismus	1/4	OMIM:620675
25885	POLR1A	HP:0012469	Infantile spasms	1/18	OMIM:616462
25885	POLR1A	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:1200
25885	POLR1A	HP:0000494	Downslanted palpebral fissures	1/3	OMIM:616462
25885	POLR1A	HP:0000490	Deeply set eye	2/2	OMIM:616462
25885	POLR1A	HP:0000463	Anteverted nares	1/1	OMIM:616462
25885	POLR1A	HP:0000470	Short neck	1/7	OMIM:615777
25885	POLR1A	HP:0001769	Broad foot	HP:0040283	OMIM:615777
25885	POLR1A	HP:0001763	Pes planus	1/7	OMIM:615777
25885	POLR1A	HP:0000453	Choanal atresia	1/3	OMIM:616462
25885	POLR1A	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:1200
25885	POLR1A	HP:0001761	Pes cavus	1/2	OMIM:620675
25885	POLR1A	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:1200
25885	POLR1A	HP:0000518	Cataract	1/4	OMIM:620675
25885	POLR1A	HP:0001840	Metatarsus adductus	-	OMIM:615777
25885	POLR1A	HP:0000520	Proptosis	2/4	OMIM:131300
25885	POLR1A	HP:0000520	Proptosis	7/7	OMIM:615777
25885	POLR1A	HP:0000508	Ptosis	5/18	OMIM:616462
25885	POLR1A	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1200
25885	POLR1A	HP:0001800	Hypoplastic toenails	1/1	OMIM:616462
25885	POLR1A	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:616462
25885	POLR1A	HP:0000592	Blue sclerae	2/7	OMIM:615777
25885	POLR1A	HP:0011224	Ablepharon	1/3	OMIM:616462
25885	POLR1A	HP:0000574	Thick eyebrow	1/1	OMIM:616462
25885	POLR1A	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
25885	POLR1A	HP:0012514	Lower limb pain	4/4	OMIM:131300
25886	POC1A	HP:0001156	Brachydactyly	-	OMIM:614813
25886	POC1A	HP:0009882	Short distal phalanx of finger	-	OMIM:614813
25886	POC1A	HP:0008551	Microtia	-	OMIM:614813
25886	POC1A	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
25886	POC1A	HP:0001293	Cranial nerve compression	-	OMIM:131300
25886	POC1A	HP:0001290	Generalized hypotonia	HP:0040283	OMIM:614813
25886	POC1A	HP:0001252	Hypotonia	1/5	OMIM:614813
25886	POC1A	HP:0001252	Hypotonia	2/7	OMIM:615777
25886	POC1A	HP:0001249	Intellectual disability	5/7	OMIM:615777
25886	POC1A	HP:0001263	Global developmental delay	2/5	OMIM:614813
25886	POC1A	HP:0001263	Global developmental delay	-	OMIM:615777
25886	POC1A	HP:0100864	Short femoral neck	-	OMIM:614813
25886	POC1A	HP:0002515	Waddling gait	54/102	OMIM:131300
25886	POC1A	HP:0002515	Waddling gait	-	OMIM:614813
25886	POC1A	HP:0000060	Clitoral hypoplasia	HP:0040283	OMIM:614813
25886	POC1A	HP:0001382	Joint hypermobility	-	OMIM:615777
25886	POC1A	HP:0002694	Sclerosis of skull base	-	OMIM:131300
25886	POC1A	HP:0008897	Postnatal growth retardation	-	OMIM:615777
25886	POC1A	HP:0008839	Hypoplastic pelvis	-	OMIM:614813
25886	POC1A	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
25886	POC1A	HP:0001324	Muscle weakness	40/96	OMIM:131300
25886	POC1A	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
25886	POC1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:614813
25886	POC1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
25886	POC1A	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
25886	POC1A	HP:0002650	Scoliosis	12/14	OMIM:131300
25886	POC1A	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
25886	POC1A	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
25886	POC1A	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
25886	POC1A	HP:0008905	Rhizomelia	5/5	OMIM:614813
25886	POC1A	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
25886	POC1A	HP:0000164	Abnormality of the dentition	HP:0040283	OMIM:614813
25886	POC1A	HP:0000175	Cleft palate	2/7	OMIM:615777
25886	POC1A	HP:0003388	Easy fatigability	36/76	OMIM:131300
25886	POC1A	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
25886	POC1A	HP:0002164	Nail dysplasia	-	OMIM:614813
25886	POC1A	HP:0010579	Cone-shaped epiphysis	-	OMIM:614813
25886	POC1A	HP:0003510	Severe short stature	7/7	OMIM:615777
25886	POC1A	HP:0002376	Developmental regression	HP:0040283	OMIM:614813
25886	POC1A	HP:0002315	Headache	-	OMIM:131300
25886	POC1A	HP:0004976	Knee dislocation	6/7	OMIM:615777
25886	POC1A	HP:0009803	Short phalanx of finger	-	OMIM:615777
25886	POC1A	HP:0200055	Small hand	5/5	OMIM:614813
25886	POC1A	HP:0010743	Short metatarsal	-	OMIM:614813
25886	POC1A	HP:0009763	Limb pain	63/92	OMIM:131300
25886	POC1A	HP:0009765	Low hanging columella	1/5	OMIM:614813
25886	POC1A	HP:0003621	Juvenile onset	-	OMIM:131300
25886	POC1A	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
25886	POC1A	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
25886	POC1A	HP:6001056	Out-toeing	-	OMIM:131300
25886	POC1A	HP:0000651	Diplopia	-	OMIM:131300
25886	POC1A	HP:0001956	Truncal obesity	2/7	OMIM:615777
25886	POC1A	HP:0001903	Anemia	HP:0040283	OMIM:131300
25886	POC1A	HP:0010049	Short metacarpal	-	OMIM:615777
25886	POC1A	HP:0010049	Short metacarpal	-	OMIM:614813
25886	POC1A	HP:0000678	Dental crowding	-	OMIM:615777
25886	POC1A	HP:0000670	Carious teeth	-	OMIM:131300
25886	POC1A	HP:0011304	Broad thumb	2/7	OMIM:615777
25886	POC1A	HP:0000668	Hypodontia	-	OMIM:615777
25886	POC1A	HP:0000664	Synophrys	-	OMIM:615777
25886	POC1A	HP:0004396	Poor appetite	-	OMIM:131300
25886	POC1A	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
25886	POC1A	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
25886	POC1A	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
25886	POC1A	HP:0003026	Short long bone	7/7	OMIM:615777
25886	POC1A	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
25886	POC1A	HP:0000767	Pectus excavatum	2/7	OMIM:615777
25886	POC1A	HP:0000768	Pectus carinatum	1/7	OMIM:615777
25886	POC1A	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
25886	POC1A	HP:0000750	Delayed speech and language development	-	OMIM:615777
25886	POC1A	HP:0011461	Fetal onset	7/7	OMIM:615777
25886	POC1A	HP:0000798	Oligozoospermia	-	OMIM:614813
25886	POC1A	HP:0000774	Narrow chest	2/7	OMIM:615777
25886	POC1A	HP:0000926	Platyspondyly	1/7	OMIM:615777
25886	POC1A	HP:0003187	Breast hypoplasia	HP:0040283	OMIM:614813
25886	POC1A	HP:0003180	Flat acetabular roof	-	OMIM:615777
25886	POC1A	HP:0004482	Relative macrocephaly	-	OMIM:615777
25886	POC1A	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
25886	POC1A	HP:0000819	Diabetes mellitus	HP:0040283	OMIM:614813
25886	POC1A	HP:0000823	Delayed puberty	-	OMIM:131300
25886	POC1A	HP:0000894	Short clavicles	-	OMIM:615777
25886	POC1A	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
25886	POC1A	HP:0004590	Hypoplastic sacrum	-	OMIM:614813
25886	POC1A	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
25886	POC1A	HP:0000938	Osteopenia	1/5	OMIM:614813
25886	POC1A	HP:0008070	Sparse hair	-	OMIM:614813
25886	POC1A	HP:0000286	Epicanthus	1/7	OMIM:615777
25886	POC1A	HP:0000280	Coarse facial features	2/7	OMIM:615777
25886	POC1A	HP:0000256	Macrocephaly	-	OMIM:614813
25886	POC1A	HP:0000276	Long face	-	OMIM:614813
25886	POC1A	HP:0002827	Hip dislocation	3/7	OMIM:615777
25886	POC1A	HP:0030084	Clinodactyly	-	OMIM:614813
25886	POC1A	HP:0000252	Microcephaly	-	OMIM:614813
25886	POC1A	HP:0000252	Microcephaly	-	OMIM:615777
25886	POC1A	HP:0002857	Genu valgum	-	OMIM:131300
25886	POC1A	HP:0001533	Slender build	-	OMIM:131300
25886	POC1A	HP:0001508	Failure to thrive	2/5	OMIM:614813
25886	POC1A	HP:0001518	Small for gestational age	5/5	OMIM:614813
25886	POC1A	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
25886	POC1A	HP:0001510	Growth delay	-	OMIM:614813
25886	POC1A	HP:0007807	Optic nerve compression	-	OMIM:131300
25886	POC1A	HP:0012368	Flat face	7/7	OMIM:615777
25886	POC1A	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
25886	POC1A	HP:0000365	Hearing impairment	10/67	OMIM:131300
25886	POC1A	HP:0000358	Posteriorly rotated ears	5/5	OMIM:614813
25886	POC1A	HP:0000369	Low-set ears	5/5	OMIM:614813
25886	POC1A	HP:0000343	Long philtrum	5/5	OMIM:614813
25886	POC1A	HP:0000343	Long philtrum	1/7	OMIM:615777
25886	POC1A	HP:0011001	Increased bone mineral density	-	OMIM:131300
25886	POC1A	HP:0000348	High forehead	5/5	OMIM:614813
25886	POC1A	HP:0000316	Hypertelorism	5/5	OMIM:614813
25886	POC1A	HP:0000311	Round face	2/7	OMIM:615777
25886	POC1A	HP:0000325	Triangular face	5/5	OMIM:614813
25886	POC1A	HP:0001620	Abnormally high-pitched voice	-	OMIM:614813
25886	POC1A	HP:0002970	Genu varum	-	OMIM:615777
25886	POC1A	HP:0000307	Pointed chin	-	OMIM:614813
25886	POC1A	HP:0000303	Mandibular prognathia	-	OMIM:131300
25886	POC1A	HP:0000303	Mandibular prognathia	-	OMIM:614813
25886	POC1A	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
25886	POC1A	HP:0000490	Deeply set eye	HP:0040283	OMIM:614813
25886	POC1A	HP:0001792	Small nail	-	OMIM:614813
25886	POC1A	HP:0000455	Broad nasal tip	5/5	OMIM:614813
25886	POC1A	HP:0000470	Short neck	1/7	OMIM:615777
25886	POC1A	HP:0001773	Short foot	5/5	OMIM:614813
25886	POC1A	HP:0001769	Broad foot	HP:0040283	OMIM:615777
25886	POC1A	HP:0001763	Pes planus	1/7	OMIM:615777
25886	POC1A	HP:0000448	Prominent nose	-	OMIM:614813
25886	POC1A	HP:0001840	Metatarsus adductus	-	OMIM:615777
25886	POC1A	HP:0000520	Proptosis	2/4	OMIM:131300
25886	POC1A	HP:0000520	Proptosis	7/7	OMIM:615777
25886	POC1A	HP:0000592	Blue sclerae	2/7	OMIM:615777
25886	POC1A	HP:0011220	Prominent forehead	-	OMIM:614813
25886	POC1A	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
25886	POC1A	HP:0012514	Lower limb pain	4/4	OMIM:131300
25894	PLEKHG4	HP:0002495	Impaired vibratory sensation	HP:0040281	ORPHA:98765
25894	PLEKHG4	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98765
25894	PLEKHG4	HP:0001284	Areflexia	HP:0040283	ORPHA:98765
25894	PLEKHG4	HP:0001251	Ataxia	HP:0040282	ORPHA:98765
25894	PLEKHG4	HP:0001260	Dysarthria	HP:0040282	ORPHA:98765
25894	PLEKHG4	HP:0003390	Sensory axonal neuropathy	HP:0040283	ORPHA:98765
25894	PLEKHG4	HP:0003438	Absent Achilles reflex	HP:0040281	ORPHA:98765
25894	PLEKHG4	HP:0007002	Motor axonal neuropathy	HP:0040283	ORPHA:98765
25894	PLEKHG4	HP:0002333	Motor deterioration	HP:0040282	ORPHA:98765
25894	PLEKHG4	HP:0010830	Impaired tactile sensation	HP:0040281	ORPHA:98765
25894	PLEKHG4	HP:0010831	Impaired proprioception	HP:0040281	ORPHA:98765
25894	PLEKHG4	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:98765
25911	DPCD	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
25911	DPCD	HP:0001293	Cranial nerve compression	-	OMIM:131300
25911	DPCD	HP:0001252	Hypotonia	2/7	OMIM:615777
25911	DPCD	HP:0001249	Intellectual disability	5/7	OMIM:615777
25911	DPCD	HP:0001263	Global developmental delay	-	OMIM:615777
25911	DPCD	HP:0002515	Waddling gait	54/102	OMIM:131300
25911	DPCD	HP:0001382	Joint hypermobility	-	OMIM:615777
25911	DPCD	HP:0002694	Sclerosis of skull base	-	OMIM:131300
25911	DPCD	HP:0008897	Postnatal growth retardation	-	OMIM:615777
25911	DPCD	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
25911	DPCD	HP:0001324	Muscle weakness	40/96	OMIM:131300
25911	DPCD	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
25911	DPCD	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
25911	DPCD	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
25911	DPCD	HP:0002650	Scoliosis	12/14	OMIM:131300
25911	DPCD	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
25911	DPCD	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
25911	DPCD	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
25911	DPCD	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
25911	DPCD	HP:0000175	Cleft palate	2/7	OMIM:615777
25911	DPCD	HP:0003388	Easy fatigability	36/76	OMIM:131300
25911	DPCD	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
25911	DPCD	HP:0003510	Severe short stature	7/7	OMIM:615777
25911	DPCD	HP:0002315	Headache	-	OMIM:131300
25911	DPCD	HP:0004976	Knee dislocation	6/7	OMIM:615777
25911	DPCD	HP:0009803	Short phalanx of finger	-	OMIM:615777
25911	DPCD	HP:0009763	Limb pain	63/92	OMIM:131300
25911	DPCD	HP:0003621	Juvenile onset	-	OMIM:131300
25911	DPCD	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
25911	DPCD	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
25911	DPCD	HP:6001056	Out-toeing	-	OMIM:131300
25911	DPCD	HP:0000651	Diplopia	-	OMIM:131300
25911	DPCD	HP:0001956	Truncal obesity	2/7	OMIM:615777
25911	DPCD	HP:0001903	Anemia	HP:0040283	OMIM:131300
25911	DPCD	HP:0010049	Short metacarpal	-	OMIM:615777
25911	DPCD	HP:0000678	Dental crowding	-	OMIM:615777
25911	DPCD	HP:0000670	Carious teeth	-	OMIM:131300
25911	DPCD	HP:0011304	Broad thumb	2/7	OMIM:615777
25911	DPCD	HP:0000668	Hypodontia	-	OMIM:615777
25911	DPCD	HP:0000664	Synophrys	-	OMIM:615777
25911	DPCD	HP:0004396	Poor appetite	-	OMIM:131300
25911	DPCD	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
25911	DPCD	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
25911	DPCD	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
25911	DPCD	HP:0003026	Short long bone	7/7	OMIM:615777
25911	DPCD	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
25911	DPCD	HP:0000767	Pectus excavatum	2/7	OMIM:615777
25911	DPCD	HP:0000768	Pectus carinatum	1/7	OMIM:615777
25911	DPCD	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
25911	DPCD	HP:0000750	Delayed speech and language development	-	OMIM:615777
25911	DPCD	HP:0011461	Fetal onset	7/7	OMIM:615777
25911	DPCD	HP:0000774	Narrow chest	2/7	OMIM:615777
25911	DPCD	HP:0000926	Platyspondyly	1/7	OMIM:615777
25911	DPCD	HP:0003180	Flat acetabular roof	-	OMIM:615777
25911	DPCD	HP:0004482	Relative macrocephaly	-	OMIM:615777
25911	DPCD	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
25911	DPCD	HP:0000823	Delayed puberty	-	OMIM:131300
25911	DPCD	HP:0000894	Short clavicles	-	OMIM:615777
25911	DPCD	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
25911	DPCD	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
25911	DPCD	HP:0000286	Epicanthus	1/7	OMIM:615777
25911	DPCD	HP:0000280	Coarse facial features	2/7	OMIM:615777
25911	DPCD	HP:0002827	Hip dislocation	3/7	OMIM:615777
25911	DPCD	HP:0000252	Microcephaly	-	OMIM:615777
25911	DPCD	HP:0002857	Genu valgum	-	OMIM:131300
25911	DPCD	HP:0001533	Slender build	-	OMIM:131300
25911	DPCD	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
25911	DPCD	HP:0007807	Optic nerve compression	-	OMIM:131300
25911	DPCD	HP:0012368	Flat face	7/7	OMIM:615777
25911	DPCD	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
25911	DPCD	HP:0000365	Hearing impairment	10/67	OMIM:131300
25911	DPCD	HP:0000343	Long philtrum	1/7	OMIM:615777
25911	DPCD	HP:0011001	Increased bone mineral density	-	OMIM:131300
25911	DPCD	HP:0000311	Round face	2/7	OMIM:615777
25911	DPCD	HP:0002970	Genu varum	-	OMIM:615777
25911	DPCD	HP:0000303	Mandibular prognathia	-	OMIM:131300
25911	DPCD	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
25911	DPCD	HP:0000470	Short neck	1/7	OMIM:615777
25911	DPCD	HP:0001769	Broad foot	HP:0040283	OMIM:615777
25911	DPCD	HP:0001763	Pes planus	1/7	OMIM:615777
25911	DPCD	HP:0001840	Metatarsus adductus	-	OMIM:615777
25911	DPCD	HP:0000520	Proptosis	2/4	OMIM:131300
25911	DPCD	HP:0000520	Proptosis	7/7	OMIM:615777
25911	DPCD	HP:0000592	Blue sclerae	2/7	OMIM:615777
25911	DPCD	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
25911	DPCD	HP:0012514	Lower limb pain	4/4	OMIM:131300
25913	POT1	HP:0001147	Retinal exudate	2/2	OMIM:620368
25913	POT1	HP:0003764	Nevus	HP:0040281	ORPHA:618
25913	POT1	HP:0002540	Inability to walk	1/1	OMIM:620368
25913	POT1	HP:0001217	Clubbing	5/5	OMIM:620367
25913	POT1	HP:0002514	Cerebral calcification	2/2	OMIM:620368
25913	POT1	HP:0003829	Typified by incomplete penetrance	-	OMIM:615848
25913	POT1	HP:0003819	Death in childhood	1/2	OMIM:620368
25913	POT1	HP:0001399	Hepatic failure	1/1	OMIM:620367
25913	POT1	HP:0000020	Urinary incontinence	1/1	OMIM:620368
25913	POT1	HP:0001344	Absent speech	1/1	OMIM:620368
25913	POT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620368
25913	POT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615848
25913	POT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620367
25913	POT1	HP:0001480	Freckling	HP:0040282	ORPHA:618
25913	POT1	HP:0002757	Recurrent fractures	1/2	OMIM:620368
25913	POT1	HP:0001409	Portal hypertension	1/1	OMIM:620367
25913	POT1	HP:0031246	Nonproductive cough	1/1	OMIM:620367
25913	POT1	HP:0002094	Dyspnea	2/2	OMIM:620367
25913	POT1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:618
25913	POT1	HP:0002040	Esophageal varix	1/1	OMIM:620367
25913	POT1	HP:0003596	Middle age onset	2/4	OMIM:620367
25913	POT1	HP:0002239	Gastrointestinal hemorrhage	1/2	OMIM:620368
25913	POT1	HP:0003581	Adult onset	-	OMIM:615848
25913	POT1	HP:0002216	Premature graying of hair	1/1	OMIM:620367
25913	POT1	HP:0002206	Pulmonary fibrosis	2/2	OMIM:620367
25913	POT1	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:618
25913	POT1	HP:0011968	Feeding difficulties	1/1	OMIM:620368
25913	POT1	HP:0011954	Nodular regenerative hyperplasia of liver	1/1	OMIM:620367
25913	POT1	HP:0002352	Leukoencephalopathy	2/2	OMIM:620368
25913	POT1	HP:0001082	Cholecystitis	1/1	OMIM:620367
25913	POT1	HP:0005518	Increased mean corpuscular volume	1/1	OMIM:620367
25913	POT1	HP:0031950	Usual interstitial pneumonia	4/4	OMIM:620367
25913	POT1	HP:0031996	Inspiratory crackles	4/4	OMIM:620367
25913	POT1	HP:0100013	Neoplasm of the breast	HP:0040283	ORPHA:618
25913	POT1	HP:0011462	Young adult onset	2/4	OMIM:620367
25913	POT1	HP:0045051	Decreased DLCO	3/3	OMIM:620367
25913	POT1	HP:0000958	Dry skin	HP:0040282	ORPHA:618
25913	POT1	HP:0100245	Gastrointestinal desmoid tumor	-	OMIM:615848
25913	POT1	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:618
25913	POT1	HP:0031413	Short telomere length	4/4	OMIM:620367
25913	POT1	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:618
25913	POT1	HP:0002861	Melanoma	HP:0040281	ORPHA:618
25913	POT1	HP:0002861	Melanoma	-	OMIM:615848
25913	POT1	HP:0001511	Intrauterine growth retardation	2/2	OMIM:620368
25913	POT1	HP:0030169	Gastric varix	1/1	OMIM:620367
25913	POT1	HP:0000488	Retinopathy	HP:0040283	ORPHA:618
25913	POT1	HP:0001744	Splenomegaly	1/1	OMIM:620367
25913	POT1	HP:0006753	Neoplasm of the stomach	HP:0040283	ORPHA:618
25913	POT1	HP:0001873	Thrombocytopenia	2/2	OMIM:620367
25914	RTTN	HP:0002487	Hyperkinetic movements	HP:0040283	ORPHA:468631
25914	RTTN	HP:0002465	Poor speech	-	OMIM:614833
25914	RTTN	HP:0002465	Poor speech	HP:0040282	ORPHA:468631
25914	RTTN	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:468631
25914	RTTN	HP:0009905	Thin ear helix	HP:0040283	ORPHA:468631
25914	RTTN	HP:0007256	Abnormal pyramidal sign	2/2	OMIM:614833
25914	RTTN	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:468631
25914	RTTN	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:468631
25914	RTTN	HP:0009879	Simplified gyral pattern	HP:0040283	ORPHA:468631
25914	RTTN	HP:0001276	Hypertonia	HP:0040283	ORPHA:468631
25914	RTTN	HP:0001272	Cerebellar atrophy	1/3	OMIM:614833
25914	RTTN	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:468631
25914	RTTN	HP:0001274	Agenesis of corpus callosum	1/6	OMIM:614833
25914	RTTN	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:468631
25914	RTTN	HP:0001250	Seizure	HP:0040283	ORPHA:468631
25914	RTTN	HP:0001250	Seizure	4/4	OMIM:614833
25914	RTTN	HP:0001260	Dysarthria	2/4	OMIM:614833
25914	RTTN	HP:0001260	Dysarthria	HP:0040283	ORPHA:468631
25914	RTTN	HP:0001257	Spasticity	1/4	OMIM:614833
25914	RTTN	HP:0001257	Spasticity	HP:0040283	ORPHA:468631
25914	RTTN	HP:0007333	Hypoplasia of the frontal lobes	HP:0040283	ORPHA:468631
25914	RTTN	HP:0002539	Cortical dysplasia	HP:0040283	ORPHA:468631
25914	RTTN	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:468631
25914	RTTN	HP:0001371	Flexion contracture	2/6	OMIM:614833
25914	RTTN	HP:0000047	Hypospadias	HP:0040283	ORPHA:468631
25914	RTTN	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:468631
25914	RTTN	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:468631
25914	RTTN	HP:0001339	Lissencephaly	HP:0040283	ORPHA:468631
25914	RTTN	HP:0001339	Lissencephaly	1/6	OMIM:614833
25914	RTTN	HP:0000007	Autosomal recessive inheritance	-	OMIM:614833
25914	RTTN	HP:0001302	Pachygyria	HP:0040283	ORPHA:468631
25914	RTTN	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:468631
25914	RTTN	HP:0000160	Narrow mouth	-	OMIM:614833
25914	RTTN	HP:0000160	Narrow mouth	HP:0040283	ORPHA:468631
25914	RTTN	HP:0007633	Bilateral microphthalmos	HP:0040283	ORPHA:468631
25914	RTTN	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:468631
25914	RTTN	HP:0000122	Unilateral renal agenesis	HP:0040283	ORPHA:468631
25914	RTTN	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:468631
25914	RTTN	HP:0000125	Pelvic kidney	HP:0040283	ORPHA:468631
25914	RTTN	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:468631
25914	RTTN	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:468631
25914	RTTN	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:468631
25914	RTTN	HP:0002126	Polymicrogyria	4/9	OMIM:614833
25914	RTTN	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:468631
25914	RTTN	HP:0004742	Abnormal renal collecting system morphology	HP:0040283	ORPHA:468631
25914	RTTN	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:468631
25914	RTTN	HP:0100702	Arachnoid cyst	HP:0040283	ORPHA:468631
25914	RTTN	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:468631
25914	RTTN	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:468631
25914	RTTN	HP:0010705	4-5 finger cutaneous syndactyly	HP:0040283	ORPHA:468631
25914	RTTN	HP:0003510	Severe short stature	HP:0040282	ORPHA:468631
25914	RTTN	HP:0003502	Mild short stature	-	OMIM:614833
25914	RTTN	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:468631
25914	RTTN	HP:0002342	Intellectual disability, moderate	-	OMIM:614833
25914	RTTN	HP:0002353	EEG abnormality	2/2	OMIM:614833
25914	RTTN	HP:0007165	Periventricular heterotopia	HP:0040283	ORPHA:468631
25914	RTTN	HP:0010767	Sacrococcygeal pilonidal abnormality	HP:0040283	ORPHA:468631
25914	RTTN	HP:0006870	Lobar holoprosencephaly	HP:0040283	ORPHA:468631
25914	RTTN	HP:0006872	Cerebral hypoplasia	HP:0040283	ORPHA:468631
25914	RTTN	HP:0000609	Optic nerve hypoplasia	HP:0040284	OMIM:614833
25914	RTTN	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:468631
25914	RTTN	HP:0000601	Hypotelorism	HP:0040283	ORPHA:468631
25914	RTTN	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:468631
25914	RTTN	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:468631
25914	RTTN	HP:0004325	Decreased body weight	6/6	OMIM:614833
25914	RTTN	HP:0006989	Dysplastic corpus callosum	1/6	OMIM:614833
25914	RTTN	HP:0004322	Short stature	6/6	OMIM:614833
25914	RTTN	HP:0005650	2-5 finger cutaneous syndactyly	HP:0040283	ORPHA:468631
25914	RTTN	HP:0006955	Olivopontocerebellar hypoplasia	HP:0040283	ORPHA:468631
25914	RTTN	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:468631
25914	RTTN	HP:0000750	Delayed speech and language development	-	OMIM:614833
25914	RTTN	HP:0000883	Thin ribs	-	OMIM:614833
25914	RTTN	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:468631
25914	RTTN	HP:0012294	Abnormal occipital bone morphology	HP:0040283	ORPHA:468631
25914	RTTN	HP:0000278	Retrognathia	HP:0040283	ORPHA:468631
25914	RTTN	HP:0006466	Ankle flexion contracture	HP:0040283	ORPHA:468631
25914	RTTN	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:468631
25914	RTTN	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:468631
25914	RTTN	HP:0000252	Microcephaly	HP:0040281	ORPHA:468631
25914	RTTN	HP:0000252	Microcephaly	6/6	OMIM:614833
25914	RTTN	HP:0001525	Severe failure to thrive	HP:0040282	ORPHA:468631
25914	RTTN	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:468631
25914	RTTN	HP:0007843	Attenuation of retinal blood vessels	HP:0040283	ORPHA:468631
25914	RTTN	HP:0001696	Situs inversus totalis	0/2	OMIM:614833
25914	RTTN	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:468631
25914	RTTN	HP:0000340	Sloping forehead	HP:0040282	ORPHA:468631
25914	RTTN	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:468631
25914	RTTN	HP:0000315	Abnormality of the orbital region	HP:0040283	ORPHA:468631
25914	RTTN	HP:0000308	Microretrognathia	HP:0040283	ORPHA:468631
25914	RTTN	HP:0030260	Microphallus	HP:0040283	ORPHA:468631
25914	RTTN	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:468631
25914	RTTN	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:468631
25914	RTTN	HP:0005487	Prominent metopic ridge	HP:0040283	ORPHA:468631
25914	RTTN	HP:0000520	Proptosis	HP:0040283	ORPHA:468631
25914	RTTN	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:468631
25914	RTTN	HP:0000568	Microphthalmia	HP:0040284	OMIM:614833
25914	RTTN	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:468631
25915	NDUFAF3	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
25915	NDUFAF3	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0002490	Increased CSF lactate	1/1	OMIM:618240
25915	NDUFAF3	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0001276	Hypertonia	3/5	OMIM:618240
25915	NDUFAF3	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0001263	Global developmental delay	-	OMIM:618240
25915	NDUFAF3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0000072	Hydroureter	1/5	OMIM:618240
25915	NDUFAF3	HP:0001347	Hyperreflexia	1/5	OMIM:618240
25915	NDUFAF3	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0000007	Autosomal recessive inheritance	-	OMIM:618240
25915	NDUFAF3	HP:0001336	Myoclonus	1/5	OMIM:618240
25915	NDUFAF3	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0000126	Hydronephrosis	1/5	OMIM:618240
25915	NDUFAF3	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
25915	NDUFAF3	HP:0011923	Decreased activity of mitochondrial complex I	5/5	OMIM:618240
25915	NDUFAF3	HP:0003593	Infantile onset	1/5	OMIM:618240
25915	NDUFAF3	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
25915	NDUFAF3	HP:0011968	Feeding difficulties	-	OMIM:618240
25915	NDUFAF3	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0003623	Neonatal onset	4/5	OMIM:618240
25915	NDUFAF3	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0000618	Blindness	HP:0040283	ORPHA:2609
25915	NDUFAF3	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0003128	Lactic acidosis	4/5	OMIM:618240
25915	NDUFAF3	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
25915	NDUFAF3	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0000817	Reduced eye contact	1/5	OMIM:618240
25915	NDUFAF3	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0000260	Wide anterior fontanel	1/5	OMIM:618240
25915	NDUFAF3	HP:0000256	Macrocephaly	1/5	OMIM:618240
25915	NDUFAF3	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
25915	NDUFAF3	HP:0002878	Respiratory failure	2/5	OMIM:618240
25915	NDUFAF3	HP:0001522	Death in infancy	5/5	OMIM:618240
25915	NDUFAF3	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0032794	Myoclonic seizure	1/5	OMIM:618240
25915	NDUFAF3	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
25915	NDUFAF3	HP:0000543	Optic disc pallor	1/1	OMIM:618240
25923	ATL3	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:36386
25923	ATL3	HP:0007328	Impaired pain sensation	6/7	OMIM:615632
25923	ATL3	HP:0031060	Impaired ability to dress oneself	HP:0040281	ORPHA:36386
25923	ATL3	HP:0002540	Inability to walk	HP:0040283	ORPHA:36386
25923	ATL3	HP:0007550	Hypohidrosis or hyperhidrosis	HP:0040282	ORPHA:36386
25923	ATL3	HP:0001324	Muscle weakness	HP:0040281	ORPHA:36386
25923	ATL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:615632
25923	ATL3	HP:0033748	Hypoesthesia	4/5	OMIM:615632
25923	ATL3	HP:0002600	Hyporeflexia of lower limbs	-	OMIM:615632
25923	ATL3	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:36386
25923	ATL3	HP:0002754	Osteomyelitis	-	OMIM:615632
25923	ATL3	HP:0002754	Osteomyelitis	HP:0040283	ORPHA:36386
25923	ATL3	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:36386
25923	ATL3	HP:0003390	Sensory axonal neuropathy	4/4	OMIM:615632
25923	ATL3	HP:0003376	Steppage gait	HP:0040282	ORPHA:36386
25923	ATL3	HP:0002141	Gait imbalance	HP:0040281	ORPHA:36386
25923	ATL3	HP:0002270	Abnormality of the autonomic nervous system	HP:0040281	ORPHA:36386
25923	ATL3	HP:0007021	Pain insensitivity	HP:0040282	ORPHA:36386
25923	ATL3	HP:0007002	Motor axonal neuropathy	HP:0040283	ORPHA:36386
25923	ATL3	HP:0007078	Decreased amplitude of sensory action potentials	HP:0040281	ORPHA:36386
25923	ATL3	HP:0001058	Poor wound healing	HP:0040282	ORPHA:36386
25923	ATL3	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:36386
25923	ATL3	HP:0001026	Penetrating foot ulcers	HP:0040282	ORPHA:36386
25923	ATL3	HP:0010834	Trophic changes related to pain	HP:0040282	ORPHA:36386
25923	ATL3	HP:0010829	Impaired temperature sensation	HP:0040282	ORPHA:36386
25923	ATL3	HP:0200042	Skin ulcer	HP:0040282	ORPHA:36386
25923	ATL3	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:615632
25923	ATL3	HP:0009763	Limb pain	HP:0040282	ORPHA:36386
25923	ATL3	HP:0003621	Juvenile onset	2/6	OMIM:615632
25923	ATL3	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:36386
25923	ATL3	HP:0041162	Metatarsal fracture	5/7	OMIM:615632
25923	ATL3	HP:0006937	Impaired distal tactile sensation	HP:0040282	ORPHA:36386
25923	ATL3	HP:0012735	Cough	HP:0040283	ORPHA:36386
25923	ATL3	HP:0011462	Young adult onset	4/6	OMIM:615632
25923	ATL3	HP:0100287	EMG: slow motor conduction	HP:0040283	ORPHA:36386
25923	ATL3	HP:0000962	Hyperkeratosis	-	OMIM:615632
25923	ATL3	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:36386
25923	ATL3	HP:0002821	Neuropathic arthropathy	5/7	OMIM:615632
25923	ATL3	HP:0002821	Neuropathic arthropathy	HP:0040283	ORPHA:36386
25923	ATL3	HP:0002936	Distal sensory impairment	HP:0040281	ORPHA:36386
25923	ATL3	HP:0000365	Hearing impairment	HP:0040283	ORPHA:36386
25923	ATL3	HP:0001822	Hallux valgus	6/7	OMIM:615632
25929	GEMIN5	HP:0001272	Cerebellar atrophy	30/30	OMIM:619333
25929	GEMIN5	HP:0001270	Motor delay	30/30	OMIM:619333
25929	GEMIN5	HP:0001284	Areflexia	4/25	OMIM:619333
25929	GEMIN5	HP:0001252	Hypotonia	26/29	OMIM:619333
25929	GEMIN5	HP:0001251	Ataxia	19/27	OMIM:619333
25929	GEMIN5	HP:0001263	Global developmental delay	30/30	OMIM:619333
25929	GEMIN5	HP:0002540	Inability to walk	8/27	OMIM:619333
25929	GEMIN5	HP:0001348	Brisk reflexes	15/25	OMIM:619333
25929	GEMIN5	HP:0000007	Autosomal recessive inheritance	-	OMIM:619333
25929	GEMIN5	HP:0003593	Infantile onset	21/30	OMIM:619333
25929	GEMIN5	HP:0003577	Congenital onset	7/29	OMIM:619333
25929	GEMIN5	HP:0003676	Progressive	6/28	OMIM:619333
25929	GEMIN5	HP:0000750	Delayed speech and language development	26/27	OMIM:619333
25929	GEMIN5	HP:0011463	Childhood onset	1/29	OMIM:619333
25929	GEMIN5	HP:0012389	Appendicular hypotonia	13/29	OMIM:619333
25930	PTPN23	HP:0007281	Developmental stagnation	1/1	OMIM:618890
25930	PTPN23	HP:0001298	Encephalopathy	1/1	OMIM:618890
25930	PTPN23	HP:0001276	Hypertonia	1/1	OMIM:618890
25930	PTPN23	HP:0001257	Spasticity	1/1	OMIM:618890
25930	PTPN23	HP:0002521	Hypsarrhythmia	1/1	OMIM:618890
25930	PTPN23	HP:0000007	Autosomal recessive inheritance	-	OMIM:618890
25930	PTPN23	HP:0008936	Axial hypotonia	1/1	OMIM:618890
25930	PTPN23	HP:0025404	Abnormal visual fixation	1/1	OMIM:618890
25930	PTPN23	HP:0002033	Poor suck	1/1	OMIM:618890
25930	PTPN23	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:618890
25930	PTPN23	HP:0000609	Optic nerve hypoplasia	1/1	OMIM:618890
25930	PTPN23	HP:0006956	Lateral ventricle dilatation	1/1	OMIM:618890
25930	PTPN23	HP:0012736	Profound global developmental delay	1/1	OMIM:618890
25930	PTPN23	HP:0011471	Gastrostomy tube feeding in infancy	1/1	OMIM:618890
25930	PTPN23	HP:0000252	Microcephaly	1/1	OMIM:618890
25930	PTPN23	HP:0032792	Tonic seizure	1/1	OMIM:618890
25930	PTPN23	HP:0032794	Myoclonic seizure	1/1	OMIM:618890
25930	PTPN23	HP:0001623	Breech presentation	1/1	OMIM:618890
25930	PTPN23	HP:0011153	Focal motor seizure	1/1	OMIM:618890
25930	PTPN23	HP:0012469	Infantile spasms	1/1	OMIM:618890
25939	SAMHD1	HP:0007321	Deep white matter hypodensities	-	OMIM:612952
25939	SAMHD1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0007229	Intracerebral periventricular calcifications	12/19	OMIM:612952
25939	SAMHD1	HP:0002415	Leukodystrophy	17/18	OMIM:612952
25939	SAMHD1	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0001276	Hypertonia	HP:0040281	ORPHA:51
25939	SAMHD1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0001250	Seizure	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:51
25939	SAMHD1	HP:0001263	Global developmental delay	14/14	OMIM:612952
25939	SAMHD1	HP:0001257	Spasticity	5/16	OMIM:612952
25939	SAMHD1	HP:0001257	Spasticity	HP:0040281	ORPHA:51
25939	SAMHD1	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0001371	Flexion contracture	-	OMIM:612952
25939	SAMHD1	HP:0001369	Arthritis	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0000054	Micropenis	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0008872	Feeding difficulties in infancy	-	OMIM:612952
25939	SAMHD1	HP:0001332	Dystonia	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612952
25939	SAMHD1	HP:0001337	Tremor	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614415
25939	SAMHD1	HP:0002650	Scoliosis	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0008936	Axial hypotonia	-	OMIM:612952
25939	SAMHD1	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0100578	Lipoatrophy	HP:0040284	ORPHA:51
25939	SAMHD1	HP:0002139	Arrhinencephaly	HP:0040281	ORPHA:51
25939	SAMHD1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0002135	Basal ganglia calcification	15/19	OMIM:612952
25939	SAMHD1	HP:0002132	Porencephalic cyst	HP:0040281	ORPHA:51
25939	SAMHD1	HP:0002187	Intellectual disability, profound	HP:0040281	ORPHA:51
25939	SAMHD1	HP:6000263	Papillary dermal edema	1/1	OMIM:614415
25939	SAMHD1	HP:0011834	Moyamoya phenomenon	HP:0040284	ORPHA:51
25939	SAMHD1	HP:0003593	Infantile onset	11/16	OMIM:612952
25939	SAMHD1	HP:0003593	Infantile onset	1/2	OMIM:614415
25939	SAMHD1	HP:0003577	Congenital onset	1/16	OMIM:612952
25939	SAMHD1	HP:0003552	Muscle stiffness	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0200149	CSF lymphocytic pleiocytosis	9/12	OMIM:612952
25939	SAMHD1	HP:0009709	Increased CSF interferon alpha	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0009710	Chilblains	2/2	OMIM:614415
25939	SAMHD1	HP:0009710	Chilblains	8/14	OMIM:612952
25939	SAMHD1	HP:0009710	Chilblains	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0009704	Chronic CSF lymphocytosis	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0004809	Neonatal alloimmune thrombocytopenia	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0007076	Extrapyramidal muscular rigidity	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0007052	Multifocal cerebral white matter abnormalities	HP:0040281	ORPHA:51
25939	SAMHD1	HP:0001063	Acrocyanosis	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0002376	Developmental regression	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0002371	Loss of speech	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0002352	Leukoencephalopathy	-	OMIM:612952
25939	SAMHD1	HP:0002315	Headache	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0100614	Myositis	HP:0040284	ORPHA:51
25939	SAMHD1	HP:0001087	Developmental glaucoma	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0004963	Calcification of the aorta	HP:0040284	ORPHA:51
25939	SAMHD1	HP:0003623	Neonatal onset	1/16	OMIM:612952
25939	SAMHD1	HP:0004942	Aortic aneurysm	HP:0040284	ORPHA:51
25939	SAMHD1	HP:0005550	Chronic lymphatic leukemia	HP:0040284	ORPHA:51
25939	SAMHD1	HP:0000639	Nystagmus	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0001955	Unexplained fevers	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0000625	Eyelid coloboma	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0004322	Short stature	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0030674	Antenatal onset	1/16	OMIM:612952
25939	SAMHD1	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0003040	Arthropathy	-	OMIM:612952
25939	SAMHD1	HP:0000737	Irritability	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0000737	Irritability	3/16	OMIM:612952
25939	SAMHD1	HP:0011463	Childhood onset	2/16	OMIM:612952
25939	SAMHD1	HP:0011463	Childhood onset	1/2	OMIM:614415
25939	SAMHD1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0030880	Raynaud phenomenon	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0000992	Cutaneous photosensitivity	1/2	OMIM:614415
25939	SAMHD1	HP:0000958	Dry skin	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0000958	Dry skin	-	OMIM:612952
25939	SAMHD1	HP:0000965	Cutis marmorata	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0040140	Degeneration of the striatum	HP:0040284	ORPHA:51
25939	SAMHD1	HP:0040189	Scaling skin	-	OMIM:612952
25939	SAMHD1	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0000252	Microcephaly	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0000252	Microcephaly	HP:0040283	OMIM:612952
25939	SAMHD1	HP:0030038	Enchondroma	HP:0040284	ORPHA:51
25939	SAMHD1	HP:0006579	Prolonged neonatal jaundice	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0001609	Hoarse voice	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0000369	Low-set ears	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0002960	Autoimmunity	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:51
25939	SAMHD1	HP:0012490	Panniculitis	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0012444	Brain atrophy	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0000508	Ptosis	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0000501	Glaucoma	HP:0040283	ORPHA:51
25939	SAMHD1	HP:0030356	Increased circulating interferon-gamma concentration	8/8	OMIM:612952
25939	SAMHD1	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040282	ORPHA:51
25939	SAMHD1	HP:0001873	Thrombocytopenia	-	OMIM:612952
25942	SIN3A	HP:0001172	Abnormal thumb morphology	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0001156	Brachydactyly	HP:0040282	ORPHA:94065
25942	SIN3A	HP:0001156	Brachydactyly	-	OMIM:613406
25942	SIN3A	HP:0001166	Arachnodactyly	-	OMIM:613406
25942	SIN3A	HP:0002475	Myelomeningocele	HP:0040284	ORPHA:94065
25942	SIN3A	HP:0009916	Anisocoria	-	OMIM:613406
25942	SIN3A	HP:0009909	Uplifted earlobe	2/11	OMIM:613406
25942	SIN3A	HP:0009890	High anterior hairline	HP:0040282	ORPHA:94065
25942	SIN3A	HP:0009890	High anterior hairline	-	OMIM:613406
25942	SIN3A	HP:0010862	Delayed fine motor development	1/11	OMIM:613406
25942	SIN3A	HP:0010864	Intellectual disability, severe	1/1	OMIM:613406
25942	SIN3A	HP:0003745	Sporadic	-	OMIM:613406
25942	SIN3A	HP:0001270	Motor delay	15/32	OMIM:613406
25942	SIN3A	HP:0001256	Intellectual disability, mild	12/15	OMIM:613406
25942	SIN3A	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:500166
25942	SIN3A	HP:0001250	Seizure	7/40	OMIM:613406
25942	SIN3A	HP:0001250	Seizure	HP:0040283	ORPHA:500166
25942	SIN3A	HP:0001252	Hypotonia	16/40	OMIM:613406
25942	SIN3A	HP:0001252	Hypotonia	HP:0040282	ORPHA:94065
25942	SIN3A	HP:0001249	Intellectual disability	17/29	OMIM:613406
25942	SIN3A	HP:0001249	Intellectual disability	HP:0040282	ORPHA:94065
25942	SIN3A	HP:0001263	Global developmental delay	19/40	OMIM:613406
25942	SIN3A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:94065
25942	SIN3A	HP:0410263	Brain imaging abnormality	HP:0040281	ORPHA:500166
25942	SIN3A	HP:0002539	Cortical dysplasia	3/12	OMIM:613406
25942	SIN3A	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:500166
25942	SIN3A	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:94065
25942	SIN3A	HP:0001382	Joint hypermobility	5/10	OMIM:613406
25942	SIN3A	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:500166
25942	SIN3A	HP:0000047	Hypospadias	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0000047	Hypospadias	-	OMIM:613406
25942	SIN3A	HP:0000023	Inguinal hernia	-	OMIM:613406
25942	SIN3A	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:94065
25942	SIN3A	HP:0008872	Feeding difficulties in infancy	-	OMIM:613406
25942	SIN3A	HP:0000006	Autosomal dominant inheritance	-	OMIM:613406
25942	SIN3A	HP:0002650	Scoliosis	-	OMIM:613406
25942	SIN3A	HP:0002650	Scoliosis	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0000179	Thick lower lip vermilion	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0000179	Thick lower lip vermilion	-	OMIM:613406
25942	SIN3A	HP:0000194	Open mouth	-	OMIM:613406
25942	SIN3A	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:500166
25942	SIN3A	HP:0000160	Narrow mouth	3/11	OMIM:613406
25942	SIN3A	HP:0000160	Narrow mouth	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0000174	Abnormal palate morphology	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0002705	High, narrow palate	-	OMIM:613406
25942	SIN3A	HP:0002750	Delayed skeletal maturation	2/10	OMIM:613406
25942	SIN3A	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:500166
25942	SIN3A	HP:0002719	Recurrent infections	HP:0040282	ORPHA:94065
25942	SIN3A	HP:0002023	Anal atresia	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0002020	Gastroesophageal reflux	1/11	OMIM:613406
25942	SIN3A	HP:0002019	Constipation	1/11	OMIM:613406
25942	SIN3A	HP:0002007	Frontal bossing	1/11	OMIM:613406
25942	SIN3A	HP:0005978	Type II diabetes mellitus	1/11	OMIM:613406
25942	SIN3A	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:613406
25942	SIN3A	HP:0009466	Radial deviation of finger	-	OMIM:613406
25942	SIN3A	HP:0040262	Glue ear	2/11	OMIM:613406
25942	SIN3A	HP:0002119	Ventriculomegaly	3/12	OMIM:613406
25942	SIN3A	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:500166
25942	SIN3A	HP:0009623	Proximal placement of thumb	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0009623	Proximal placement of thumb	-	OMIM:613406
25942	SIN3A	HP:0002188	Delayed CNS myelination	1/11	OMIM:613406
25942	SIN3A	HP:0002170	Intracranial hemorrhage	1/11	OMIM:613406
25942	SIN3A	HP:0010535	Sleep apnea	1/11	OMIM:613406
25942	SIN3A	HP:0011833	Overhanging nasal tip	1/11	OMIM:613406
25942	SIN3A	HP:0003593	Infantile onset	8/12	OMIM:613406
25942	SIN3A	HP:0002275	Poor motor coordination	1/1	OMIM:613406
25942	SIN3A	HP:0003577	Congenital onset	2/11	OMIM:613406
25942	SIN3A	HP:0002213	Fine hair	3/9	OMIM:613406
25942	SIN3A	HP:0002213	Fine hair	HP:0040283	ORPHA:500166
25942	SIN3A	HP:0100790	Hernia	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:613406
25942	SIN3A	HP:0011968	Feeding difficulties	16/39	OMIM:613406
25942	SIN3A	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0032059	Mild malformation of cortical development	HP:0040282	ORPHA:500166
25942	SIN3A	HP:0032077	Male urethral meatus stenosis	1/11	OMIM:613406
25942	SIN3A	HP:0430028	Hyperplasia of the maxilla	2/11	OMIM:613406
25942	SIN3A	HP:0002360	Sleep abnormality	-	OMIM:613406
25942	SIN3A	HP:0002376	Developmental regression	-	OMIM:613406
25942	SIN3A	HP:0200055	Small hand	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0200055	Small hand	2/12	OMIM:613406
25942	SIN3A	HP:0009795	Branchial fistula	1/11	OMIM:613406
25942	SIN3A	HP:0009778	Short thumb	-	OMIM:613406
25942	SIN3A	HP:0010747	Medial flaring of the eyebrow	-	OMIM:613406
25942	SIN3A	HP:0003623	Neonatal onset	1/10	OMIM:613406
25942	SIN3A	HP:0004209	Clinodactyly of the 5th finger	5/12	OMIM:613406
25942	SIN3A	HP:0004279	Short palm	-	OMIM:613406
25942	SIN3A	HP:0000639	Nystagmus	-	OMIM:613406
25942	SIN3A	HP:0000639	Nystagmus	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0000612	Iris coloboma	1/28	OMIM:613406
25942	SIN3A	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:500166
25942	SIN3A	HP:0006989	Dysplastic corpus callosum	HP:0040283	ORPHA:500166
25942	SIN3A	HP:0006989	Dysplastic corpus callosum	6/23	OMIM:613406
25942	SIN3A	HP:0004322	Short stature	13/42	OMIM:613406
25942	SIN3A	HP:0004322	Short stature	HP:0040282	ORPHA:94065
25942	SIN3A	HP:0034198	Second trimester onset	2/10	OMIM:613406
25942	SIN3A	HP:0012745	Short palpebral fissure	1/11	OMIM:613406
25942	SIN3A	HP:0012741	Unilateral cryptorchidism	1/1	OMIM:613406
25942	SIN3A	HP:0000752	Hyperactivity	1/1	OMIM:613406
25942	SIN3A	HP:0100024	Conspicuously happy disposition	-	OMIM:613406
25942	SIN3A	HP:0000739	Anxiety	1/11	OMIM:613406
25942	SIN3A	HP:0000736	Short attention span	HP:0040283	ORPHA:500166
25942	SIN3A	HP:0000750	Delayed speech and language development	12/29	OMIM:613406
25942	SIN3A	HP:0000718	Aggressive behavior	1/1	OMIM:613406
25942	SIN3A	HP:0000717	Autism	7/12	OMIM:613406
25942	SIN3A	HP:0000729	Autistic behavior	1/11	OMIM:613406
25942	SIN3A	HP:0000729	Autistic behavior	HP:0040282	ORPHA:500166
25942	SIN3A	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:500166
25942	SIN3A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:94065
25942	SIN3A	HP:0011463	Childhood onset	1/10	OMIM:613406
25942	SIN3A	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0000776	Congenital diaphragmatic hernia	1/1	OMIM:613406
25942	SIN3A	HP:0003196	Short nose	1/11	OMIM:613406
25942	SIN3A	HP:0000924	Abnormality of the skeletal system	HP:0040282	ORPHA:500166
25942	SIN3A	HP:0012810	Wide nasal base	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:613406
25942	SIN3A	HP:0009275	Contracture of the distal interphalangeal joint of the 4th finger	1/11	OMIM:613406
25942	SIN3A	HP:0033052	Non-epileptic seizure	1/11	OMIM:613406
25942	SIN3A	HP:0000964	Eczematoid dermatitis	1/11	OMIM:613406
25942	SIN3A	HP:0040195	Decreased head circumference	HP:0040282	ORPHA:500166
25942	SIN3A	HP:0000286	Epicanthus	5/11	OMIM:613406
25942	SIN3A	HP:0000286	Epicanthus	HP:0040282	ORPHA:94065
25942	SIN3A	HP:0000275	Narrow face	-	OMIM:613406
25942	SIN3A	HP:0000276	Long face	2/2	OMIM:613406
25942	SIN3A	HP:0000276	Long face	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0030084	Clinodactyly	2/10	OMIM:613406
25942	SIN3A	HP:0030084	Clinodactyly	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0030084	Clinodactyly	HP:0040283	ORPHA:500166
25942	SIN3A	HP:0002808	Kyphosis	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0000252	Microcephaly	19/41	OMIM:613406
25942	SIN3A	HP:0000252	Microcephaly	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0000219	Thin upper lip vermilion	1/11	OMIM:613406
25942	SIN3A	HP:0000218	High palate	2/12	OMIM:613406
25942	SIN3A	HP:0001561	Polyhydramnios	-	OMIM:613406
25942	SIN3A	HP:0001508	Failure to thrive	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0001518	Small for gestational age	-	OMIM:613406
25942	SIN3A	HP:0001518	Small for gestational age	HP:0040282	ORPHA:94065
25942	SIN3A	HP:0001511	Intrauterine growth retardation	1/11	OMIM:613406
25942	SIN3A	HP:0001510	Growth delay	-	OMIM:613406
25942	SIN3A	HP:0001513	Obesity	1/1	OMIM:613406
25942	SIN3A	HP:0001513	Obesity	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0012378	Fatigue	1/11	OMIM:613406
25942	SIN3A	HP:0000378	Cupped ear	-	OMIM:613406
25942	SIN3A	HP:0000391	Thickened helices	3/12	OMIM:613406
25942	SIN3A	HP:0000365	Hearing impairment	4/13	OMIM:613406
25942	SIN3A	HP:0000365	Hearing impairment	HP:0040282	ORPHA:500166
25942	SIN3A	HP:0000365	Hearing impairment	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0000356	Abnormality of the outer ear	HP:0040282	ORPHA:94065
25942	SIN3A	HP:0025646	Bilateral polymicrogyria	1/11	OMIM:613406
25942	SIN3A	HP:0000343	Long philtrum	HP:0040282	ORPHA:94065
25942	SIN3A	HP:0000343	Long philtrum	1/1	OMIM:613406
25942	SIN3A	HP:0000337	Broad forehead	4/11	OMIM:613406
25942	SIN3A	HP:0000348	High forehead	3/12	OMIM:613406
25942	SIN3A	HP:0000319	Smooth philtrum	2/11	OMIM:613406
25942	SIN3A	HP:0000319	Smooth philtrum	HP:0040282	ORPHA:94065
25942	SIN3A	HP:0000316	Hypertelorism	1/1	OMIM:613406
25942	SIN3A	HP:0000316	Hypertelorism	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0000322	Short philtrum	1/11	OMIM:613406
25942	SIN3A	HP:0000325	Triangular face	1/11	OMIM:613406
25942	SIN3A	HP:0000324	Facial asymmetry	-	OMIM:613406
25942	SIN3A	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0000308	Microretrognathia	-	OMIM:613406
25942	SIN3A	HP:0000307	Pointed chin	7/11	OMIM:613406
25942	SIN3A	HP:0000407	Sensorineural hearing impairment	1/11	OMIM:613406
25942	SIN3A	HP:0000400	Macrotia	2/12	OMIM:613406
25942	SIN3A	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0005280	Depressed nasal bridge	3/12	OMIM:613406
25942	SIN3A	HP:0000486	Strabismus	1/1	OMIM:613406
25942	SIN3A	HP:0000486	Strabismus	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:94065
25942	SIN3A	HP:0000494	Downslanted palpebral fissures	11/13	OMIM:613406
25942	SIN3A	HP:0000490	Deeply set eye	2/11	OMIM:613406
25942	SIN3A	HP:0001795	Hyperconvex nail	1/11	OMIM:613406
25942	SIN3A	HP:0000463	Anteverted nares	1/11	OMIM:613406
25942	SIN3A	HP:0000454	Flared nostrils	-	OMIM:613406
25942	SIN3A	HP:0001770	Toe syndactyly	1/11	OMIM:613406
25942	SIN3A	HP:0001773	Short foot	1/11	OMIM:613406
25942	SIN3A	HP:0011100	Intestinal atresia	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0030260	Microphallus	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0030260	Microphallus	-	OMIM:613406
25942	SIN3A	HP:0001780	Abnormal toe morphology	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0000445	Wide nose	-	OMIM:613406
25942	SIN3A	HP:0000411	Protruding ear	3/11	OMIM:613406
25942	SIN3A	HP:0001741	Phimosis	2/11	OMIM:613406
25942	SIN3A	HP:0000431	Wide nasal bridge	1/1	OMIM:613406
25942	SIN3A	HP:0000430	Underdeveloped nasal alae	-	OMIM:613406
25942	SIN3A	HP:0000426	Prominent nasal bridge	1/11	OMIM:613406
25942	SIN3A	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0000518	Cataract	1/11	OMIM:613406
25942	SIN3A	HP:0001845	Overlapping toe	1/11	OMIM:613406
25942	SIN3A	HP:0001808	Fragile nails	HP:0040283	ORPHA:500166
25942	SIN3A	HP:0001808	Fragile nails	1/9	OMIM:613406
25942	SIN3A	HP:0011229	Broad eyebrow	HP:0040282	ORPHA:94065
25942	SIN3A	HP:0000586	Shallow orbits	1/11	OMIM:613406
25942	SIN3A	HP:0000589	Coloboma	HP:0040283	ORPHA:94065
25942	SIN3A	HP:0011220	Prominent forehead	1/11	OMIM:613406
25942	SIN3A	HP:0000568	Microphthalmia	-	OMIM:613406
25942	SIN3A	HP:0000540	Hypermetropia	3/11	OMIM:613406
25953	PNKD	HP:0002487	Hyperkinetic movements	HP:0040282	ORPHA:98810
25953	PNKD	HP:0002411	Myokymia	-	OMIM:118800
25953	PNKD	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:98810
25953	PNKD	HP:0001260	Dysarthria	-	OMIM:118800
25953	PNKD	HP:0001387	Joint stiffness	HP:0040283	ORPHA:98810
25953	PNKD	HP:0001332	Dystonia	HP:0040281	ORPHA:98810
25953	PNKD	HP:0000006	Autosomal dominant inheritance	-	OMIM:118800
25953	PNKD	HP:0025401	Staring gaze	HP:0040283	ORPHA:98810
25953	PNKD	HP:0002015	Dysphagia	-	OMIM:118800
25953	PNKD	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:98810
25953	PNKD	HP:0002094	Dyspnea	HP:0040283	ORPHA:98810
25953	PNKD	HP:0002063	Rigidity	HP:0040283	ORPHA:98810
25953	PNKD	HP:0002072	Chorea	HP:0040282	ORPHA:98810
25953	PNKD	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:98810
25953	PNKD	HP:0002268	Paroxysmal dystonia	-	OMIM:118800
25953	PNKD	HP:0003593	Infantile onset	-	OMIM:118800
25953	PNKD	HP:0007098	Paroxysmal choreoathetosis	12/12	OMIM:118800
25953	PNKD	HP:0100660	Dyskinesia	HP:0040283	ORPHA:98810
25953	PNKD	HP:0007166	Paroxysmal dyskinesia	HP:0040281	ORPHA:98810
25953	PNKD	HP:0004305	Involuntary movements	HP:0040282	ORPHA:98810
25953	PNKD	HP:0011463	Childhood onset	-	OMIM:118800
25953	PNKD	HP:0000273	Facial grimacing	-	OMIM:118800
25953	PNKD	HP:0000211	Trismus	HP:0040283	ORPHA:98810
25953	PNKD	HP:0000473	Torticollis	-	OMIM:118800
25953	PNKD	HP:0000473	Torticollis	HP:0040283	ORPHA:98810
25959	KANK2	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
25959	KANK2	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
25959	KANK2	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
25959	KANK2	HP:0000093	Proteinuria	3/3	OMIM:617783
25959	KANK2	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
25959	KANK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617783
25959	KANK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616099
25959	KANK2	HP:0000100	Nephrotic syndrome	3/3	OMIM:617783
25959	KANK2	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
25959	KANK2	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
25959	KANK2	HP:0002224	Woolly hair	2/7	OMIM:616099
25959	KANK2	HP:0002231	Sparse body hair	7/7	OMIM:616099
25959	KANK2	HP:0002209	Sparse scalp hair	7/7	OMIM:616099
25959	KANK2	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
25959	KANK2	HP:0002315	Headache	HP:0040283	ORPHA:656
25959	KANK2	HP:0009775	Amniotic constriction ring	-	OMIM:616099
25959	KANK2	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
25959	KANK2	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
25959	KANK2	HP:0001945	Fever	HP:0040283	ORPHA:656
25959	KANK2	HP:0000653	Sparse eyelashes	7/7	OMIM:616099
25959	KANK2	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
25959	KANK2	HP:0000737	Irritability	HP:0040283	ORPHA:656
25959	KANK2	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
25959	KANK2	HP:0011463	Childhood onset	3/3	OMIM:617783
25959	KANK2	HP:0000790	Hematuria	1/3	OMIM:617783
25959	KANK2	HP:0045075	Sparse eyebrow	7/7	OMIM:616099
25959	KANK2	HP:0000982	Palmoplantar keratoderma	7/7	OMIM:616099
25959	KANK2	HP:0000969	Edema	HP:0040281	ORPHA:656
25959	KANK2	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
25959	KANK2	HP:0001820	Leukonychia	7/7	OMIM:616099
25959	KANK2	HP:0012579	Minimal change glomerulonephritis	3/3	OMIM:617783
25959	KANK2	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
25970	SH2B1	HP:0001166	Arachnodactyly	HP:0040281	ORPHA:261222
25970	SH2B1	HP:0001161	Hand polydactyly	HP:0040284	ORPHA:261197
25970	SH2B1	HP:0001270	Motor delay	HP:0040282	ORPHA:261197
25970	SH2B1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:261197
25970	SH2B1	HP:0001250	Seizure	HP:0040282	ORPHA:261222
25970	SH2B1	HP:0001250	Seizure	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:261222
25970	SH2B1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:261197
25970	SH2B1	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0002591	Polyphagia	HP:0040281	ORPHA:329249
25970	SH2B1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:261222
25970	SH2B1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:261197
25970	SH2B1	HP:0008763	No social interaction	HP:0040282	ORPHA:329249
25970	SH2B1	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:261197
25970	SH2B1	HP:0000093	Proteinuria	HP:0040282	ORPHA:261222
25970	SH2B1	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:261222
25970	SH2B1	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:261222
25970	SH2B1	HP:0001363	Craniosynostosis	HP:0040284	ORPHA:261197
25970	SH2B1	HP:0002691	Platybasia	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0001332	Dystonia	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:261197
25970	SH2B1	HP:0000003	Multicystic kidney dysplasia	HP:0040284	ORPHA:261197
25970	SH2B1	HP:0002650	Scoliosis	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0001319	Neonatal hypotonia	HP:0040281	ORPHA:261222
25970	SH2B1	HP:0000160	Narrow mouth	HP:0040281	ORPHA:261222
25970	SH2B1	HP:0000175	Cleft palate	HP:0040284	ORPHA:261197
25970	SH2B1	HP:0000104	Renal agenesis	HP:0040282	ORPHA:261222
25970	SH2B1	HP:0002021	Pyloric stenosis	HP:0040284	ORPHA:261197
25970	SH2B1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0011800	Midface retrusion	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0003396	Syringomyelia	HP:0040284	ORPHA:261197
25970	SH2B1	HP:0002076	Migraine	HP:0040283	ORPHA:261222
25970	SH2B1	HP:0003468	Abnormal vertebral morphology	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0002149	Hyperuricemia	HP:0040282	ORPHA:261222
25970	SH2B1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0100702	Arachnoid cyst	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0002251	Aganglionic megacolon	HP:0040282	ORPHA:261222
25970	SH2B1	HP:0002280	Enlarged cisterna magna	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040281	ORPHA:261222
25970	SH2B1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:261197
25970	SH2B1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0007099	Chiari type I malformation	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0007166	Paroxysmal dyskinesia	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0006863	Severe expressive language delay	HP:0040282	ORPHA:261197
25970	SH2B1	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:261197
25970	SH2B1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:261222
25970	SH2B1	HP:0011351	Moderate receptive language delay	HP:0040282	ORPHA:261222
25970	SH2B1	HP:0011351	Moderate receptive language delay	HP:0040282	ORPHA:261197
25970	SH2B1	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0004322	Short stature	HP:0040281	ORPHA:329249
25970	SH2B1	HP:0003077	Hyperlipidemia	-	ORPHA:329249
25970	SH2B1	HP:0003074	Hyperglycemia	-	ORPHA:329249
25970	SH2B1	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:261197
25970	SH2B1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:261222
25970	SH2B1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:329249
25970	SH2B1	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:329249
25970	SH2B1	HP:0000717	Autism	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0000729	Autistic behavior	HP:0040281	ORPHA:261197
25970	SH2B1	HP:0000729	Autistic behavior	HP:0040282	ORPHA:261222
25970	SH2B1	HP:0000708	Atypical behavior	HP:0040281	ORPHA:261197
25970	SH2B1	HP:0000776	Congenital diaphragmatic hernia	HP:0040284	ORPHA:261197
25970	SH2B1	HP:0012760	Reduced social responsiveness	HP:0040281	ORPHA:329249
25970	SH2B1	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0000902	Rib fusion	HP:0040284	ORPHA:261197
25970	SH2B1	HP:0000842	Hyperinsulinemia	HP:0040281	ORPHA:329249
25970	SH2B1	HP:0000294	Low anterior hairline	HP:0040281	ORPHA:261222
25970	SH2B1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:261197
25970	SH2B1	HP:0002808	Kyphosis	HP:0040283	ORPHA:261222
25970	SH2B1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0001513	Obesity	HP:0040282	ORPHA:261222
25970	SH2B1	HP:0001513	Obesity	HP:0040281	ORPHA:329249
25970	SH2B1	HP:0001513	Obesity	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0011098	Speech apraxia	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0002910	Elevated circulating hepatic transaminase concentration	-	ORPHA:329249
25970	SH2B1	HP:0000337	Broad forehead	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0000347	Micrognathia	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0001651	Dextrocardia	HP:0040284	ORPHA:261197
25970	SH2B1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0000300	Oval face	HP:0040281	ORPHA:261222
25970	SH2B1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:261197
25970	SH2B1	HP:0012450	Chronic constipation	HP:0040282	ORPHA:261222
25970	SH2B1	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:261222
25970	SH2B1	HP:0000510	Rod-cone dystrophy	HP:0040281	ORPHA:261222
25970	SH2B1	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:261222
25973	PARS2	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
25973	PARS2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
25973	PARS2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
25973	PARS2	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
25973	PARS2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
25973	PARS2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
25973	PARS2	HP:0001250	Seizure	HP:0040282	ORPHA:442835
25973	PARS2	HP:0001250	Seizure	3/3	OMIM:618437
25973	PARS2	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
25973	PARS2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
25973	PARS2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
25973	PARS2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
25973	PARS2	HP:0001263	Global developmental delay	3/3	OMIM:618437
25973	PARS2	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
25973	PARS2	HP:0001257	Spasticity	-	OMIM:618437
25973	PARS2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
25973	PARS2	HP:0002521	Hypsarrhythmia	3/3	OMIM:618437
25973	PARS2	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
25973	PARS2	HP:0001347	Hyperreflexia	-	OMIM:618437
25973	PARS2	HP:0008872	Feeding difficulties in infancy	3/3	OMIM:618437
25973	PARS2	HP:0001344	Absent speech	3/3	OMIM:618437
25973	PARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618437
25973	PARS2	HP:0001337	Tremor	HP:0040283	ORPHA:442835
25973	PARS2	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
25973	PARS2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
25973	PARS2	HP:0000194	Open mouth	-	OMIM:618437
25973	PARS2	HP:0008936	Axial hypotonia	-	OMIM:618437
25973	PARS2	HP:0001410	Decreased liver function	HP:0040284	OMIM:618437
25973	PARS2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
25973	PARS2	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
25973	PARS2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:618437
25973	PARS2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
25973	PARS2	HP:0003487	Babinski sign	-	OMIM:618437
25973	PARS2	HP:0002120	Cerebral cortical atrophy	-	OMIM:618437
25973	PARS2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
25973	PARS2	HP:0003429	CNS hypomyelination	-	OMIM:618437
25973	PARS2	HP:0100704	Cerebral visual impairment	-	OMIM:618437
25973	PARS2	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
25973	PARS2	HP:0200134	Epileptic encephalopathy	-	OMIM:618437
25973	PARS2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
25973	PARS2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
25973	PARS2	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
25973	PARS2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
25973	PARS2	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
25973	PARS2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
25973	PARS2	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
25973	PARS2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
25973	PARS2	HP:0000648	Optic atrophy	-	OMIM:618437
25973	PARS2	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
25973	PARS2	HP:0004322	Short stature	HP:0040283	ORPHA:442835
25973	PARS2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
25973	PARS2	HP:0006913	Frontal cortical atrophy	-	OMIM:618437
25973	PARS2	HP:0012736	Profound global developmental delay	-	OMIM:618437
25973	PARS2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
25973	PARS2	HP:0000717	Autism	HP:0040283	ORPHA:442835
25973	PARS2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
25973	PARS2	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
25973	PARS2	HP:0003196	Short nose	-	OMIM:618437
25973	PARS2	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
25973	PARS2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
25973	PARS2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
25973	PARS2	HP:0006579	Prolonged neonatal jaundice	2/3	OMIM:618437
25973	PARS2	HP:0000340	Sloping forehead	-	OMIM:618437
25973	PARS2	HP:0000348	High forehead	HP:0040283	ORPHA:442835
25973	PARS2	HP:0000316	Hypertelorism	-	OMIM:618437
25973	PARS2	HP:0000331	Short chin	-	OMIM:618437
25973	PARS2	HP:0000322	Short philtrum	-	OMIM:618437
25973	PARS2	HP:0001638	Cardiomyopathy	HP:0040284	OMIM:618437
25973	PARS2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
25973	PARS2	HP:0000463	Anteverted nares	-	OMIM:618437
25973	PARS2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
25973	PARS2	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
25973	PARS2	HP:0000431	Wide nasal bridge	-	OMIM:618437
25973	PARS2	HP:0005484	Secondary microcephaly	3/3	OMIM:618437
25973	PARS2	HP:0000520	Proptosis	-	OMIM:618437
25973	PARS2	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
25973	PARS2	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
25973	PARS2	HP:0000582	Upslanted palpebral fissure	-	OMIM:618437
25973	PARS2	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
25973	PARS2	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
25973	PARS2	HP:0000543	Optic disc pallor	-	OMIM:618437
25974	MMACHC	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
25974	MMACHC	HP:0001116	Macular coloboma	HP:0040282	ORPHA:79282
25974	MMACHC	HP:0007258	Severe demyelination of the white matter	HP:0040284	ORPHA:79282
25974	MMACHC	HP:0001298	Encephalopathy	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0001297	Stroke	HP:0040284	ORPHA:79282
25974	MMACHC	HP:0001290	Generalized hypotonia	-	OMIM:277400
25974	MMACHC	HP:0100820	Glomerulopathy	HP:0040282	ORPHA:79282
25974	MMACHC	HP:0001268	Mental deterioration	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0001289	Confusion	-	OMIM:277400
25974	MMACHC	HP:0001254	Lethargy	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0001254	Lethargy	-	OMIM:277400
25974	MMACHC	HP:0001250	Seizure	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0001250	Seizure	-	OMIM:277400
25974	MMACHC	HP:0001252	Hypotonia	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0001252	Hypotonia	-	OMIM:277400
25974	MMACHC	HP:0001251	Ataxia	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0001249	Intellectual disability	HP:0040281	ORPHA:79282
25974	MMACHC	HP:0001249	Intellectual disability	-	OMIM:277400
25974	MMACHC	HP:0001263	Global developmental delay	-	OMIM:277400
25974	MMACHC	HP:0008765	Auditory hallucination	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0000083	Renal insufficiency	-	OMIM:277400
25974	MMACHC	HP:0000093	Proteinuria	-	OMIM:277400
25974	MMACHC	HP:0008872	Feeding difficulties in infancy	-	OMIM:277400
25974	MMACHC	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
25974	MMACHC	HP:0000007	Autosomal recessive inheritance	-	OMIM:277400
25974	MMACHC	HP:0001337	Tremor	-	OMIM:277400
25974	MMACHC	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
25974	MMACHC	HP:0002615	Hypotension	1/3	OMIM:277400
25974	MMACHC	HP:0002625	Deep venous thrombosis	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0012120	Methylmalonic aciduria	HP:0040281	ORPHA:79282
25974	MMACHC	HP:0012120	Methylmalonic aciduria	-	OMIM:277400
25974	MMACHC	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
25974	MMACHC	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
25974	MMACHC	HP:0007663	Reduced visual acuity	-	OMIM:277400
25974	MMACHC	HP:0008936	Axial hypotonia	1/3	OMIM:277400
25974	MMACHC	HP:0000112	Nephropathy	-	OMIM:277400
25974	MMACHC	HP:0031258	Delirium	HP:0040284	ORPHA:79282
25974	MMACHC	HP:0031258	Delirium	-	OMIM:277400
25974	MMACHC	HP:0002013	Vomiting	1/3	OMIM:277400
25974	MMACHC	HP:0002098	Respiratory distress	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0002092	Pulmonary arterial hypertension	1/3	OMIM:277400
25974	MMACHC	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:277400
25974	MMACHC	HP:0002045	Hypothermia	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0002156	Homocystinuria	-	OMIM:277400
25974	MMACHC	HP:0002120	Cerebral cortical atrophy	-	OMIM:277400
25974	MMACHC	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0002160	Hyperhomocystinemia	HP:0040281	ORPHA:79282
25974	MMACHC	HP:0002160	Hyperhomocystinemia	2/3	OMIM:277400
25974	MMACHC	HP:0003596	Middle age onset	1/3	OMIM:277400
25974	MMACHC	HP:0003593	Infantile onset	133/175	OMIM:277400
25974	MMACHC	HP:0002240	Hepatomegaly	1/3	OMIM:277400
25974	MMACHC	HP:0003524	Decreased methionine synthase activity	3/3	OMIM:277400
25974	MMACHC	HP:0002204	Pulmonary embolism	HP:0040284	ORPHA:79282
25974	MMACHC	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:79282
25974	MMACHC	HP:0002376	Developmental regression	HP:0040284	ORPHA:79282
25974	MMACHC	HP:0002354	Memory impairment	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0002352	Leukoencephalopathy	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0003658	Hypomethioninemia	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0003658	Hypomethioninemia	1/3	OMIM:277400
25974	MMACHC	HP:0003623	Neonatal onset	1/3	OMIM:277400
25974	MMACHC	HP:0003621	Juvenile onset	8/19	OMIM:180100
25974	MMACHC	HP:0003621	Juvenile onset	25/176	OMIM:277400
25974	MMACHC	HP:0006827	Atrophy of the spinal cord	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0005575	Hemolytic-uremic syndrome	HP:0040284	ORPHA:79282
25974	MMACHC	HP:0005575	Hemolytic-uremic syndrome	-	OMIM:277400
25974	MMACHC	HP:0000639	Nystagmus	HP:0040282	ORPHA:79282
25974	MMACHC	HP:0000639	Nystagmus	-	OMIM:277400
25974	MMACHC	HP:0000648	Optic atrophy	HP:0040282	ORPHA:79282
25974	MMACHC	HP:0001944	Dehydration	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0001942	Metabolic acidosis	HP:0040284	ORPHA:79282
25974	MMACHC	HP:0001942	Metabolic acidosis	-	OMIM:277400
25974	MMACHC	HP:0001907	Thromboembolism	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0001907	Thromboembolism	-	OMIM:277400
25974	MMACHC	HP:0001919	Acute kidney injury	1/3	OMIM:277400
25974	MMACHC	HP:0000662	Nyctalopia	26/28	OMIM:180100
25974	MMACHC	HP:0001987	Hyperammonemia	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:79282
25974	MMACHC	HP:0000751	Personality changes	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0000726	Dementia	HP:0040284	ORPHA:79282
25974	MMACHC	HP:0000726	Dementia	-	OMIM:277400
25974	MMACHC	HP:0000709	Psychosis	HP:0040284	ORPHA:79282
25974	MMACHC	HP:0000708	Atypical behavior	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0011463	Childhood onset	3/19	OMIM:180100
25974	MMACHC	HP:0011463	Childhood onset	11/172	OMIM:277400
25974	MMACHC	HP:0011462	Young adult onset	8/19	OMIM:180100
25974	MMACHC	HP:0011462	Young adult onset	4/172	OMIM:277400
25974	MMACHC	HP:0000790	Hematuria	-	OMIM:277400
25974	MMACHC	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0040126	Abnormal circulating vitamin B12 concentration	0/3	OMIM:277400
25974	MMACHC	HP:0100309	Subdural hemorrhage	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0003153	Cystathioninuria	-	OMIM:277400
25974	MMACHC	HP:0003145	Decreased circulating adenosylcobalamin concentration	-	OMIM:277400
25974	MMACHC	HP:0010280	Stomatitis	HP:0040282	ORPHA:79282
25974	MMACHC	HP:0003210	Decreased methylmalonyl-CoA mutase activity	3/3	OMIM:277400
25974	MMACHC	HP:0003223	Decreased circulating methylcobalamin concentration	-	OMIM:277400
25974	MMACHC	HP:0030891	Periventricular white matter hyperintensities	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0033051	Impaired executive functioning	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0003286	Cystathioninemia	-	OMIM:277400
25974	MMACHC	HP:0008002	Abnormality of macular pigmentation	HP:0040282	ORPHA:79282
25974	MMACHC	HP:0000980	Pallor	1/3	OMIM:277400
25974	MMACHC	HP:0000952	Jaundice	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0000276	Long face	HP:0040284	ORPHA:79282
25974	MMACHC	HP:0000276	Long face	-	OMIM:277400
25974	MMACHC	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
25974	MMACHC	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:79282
25974	MMACHC	HP:0000238	Hydrocephalus	-	OMIM:277400
25974	MMACHC	HP:0000252	Microcephaly	HP:0040282	ORPHA:79282
25974	MMACHC	HP:0000252	Microcephaly	-	OMIM:277400
25974	MMACHC	HP:0000206	Glossitis	HP:0040282	ORPHA:79282
25974	MMACHC	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79282
25974	MMACHC	HP:0001508	Failure to thrive	-	OMIM:277400
25974	MMACHC	HP:0001518	Small for gestational age	1/3	OMIM:277400
25974	MMACHC	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0001510	Growth delay	HP:0040282	ORPHA:79282
25974	MMACHC	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
25974	MMACHC	HP:0011096	Peripheral demyelination	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0002919	Ketonuria	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0002912	Methylmalonic acidemia	HP:0040281	ORPHA:79282
25974	MMACHC	HP:0002912	Methylmalonic acidemia	12/13	OMIM:277400
25974	MMACHC	HP:0001695	Cardiac arrest	1/3	OMIM:277400
25974	MMACHC	HP:0000369	Low-set ears	HP:0040284	ORPHA:79282
25974	MMACHC	HP:0000369	Low-set ears	-	OMIM:277400
25974	MMACHC	HP:0000348	High forehead	HP:0040284	ORPHA:79282
25974	MMACHC	HP:0000348	High forehead	-	OMIM:277400
25974	MMACHC	HP:0000319	Smooth philtrum	HP:0040284	ORPHA:79282
25974	MMACHC	HP:0000319	Smooth philtrum	-	OMIM:277400
25974	MMACHC	HP:0001649	Tachycardia	2/3	OMIM:277400
25974	MMACHC	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0001662	Bradycardia	1/3	OMIM:277400
25974	MMACHC	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0000400	Macrotia	-	OMIM:277400
25974	MMACHC	HP:0031544	Elevated circulating palmitoleylcarnitine concentration	HP:0040281	ORPHA:79282
25974	MMACHC	HP:0012469	Infantile spasms	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0001789	Hydrops fetalis	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0012443	Abnormal brain morphology	HP:0040284	ORPHA:79282
25974	MMACHC	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
25974	MMACHC	HP:0000505	Visual impairment	HP:0040282	ORPHA:79282
25974	MMACHC	HP:0000505	Visual impairment	-	OMIM:277400
25974	MMACHC	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:79282
25974	MMACHC	HP:0000580	Pigmentary retinopathy	-	OMIM:277400
25974	MMACHC	HP:0000575	Scotoma	5/18	OMIM:180100
25974	MMACHC	HP:0001889	Megaloblastic anemia	HP:0040281	ORPHA:79282
25974	MMACHC	HP:0001889	Megaloblastic anemia	1/3	OMIM:277400
25974	MMACHC	HP:0000546	Retinal degeneration	HP:0040282	ORPHA:79282
25974	MMACHC	HP:0000543	Optic disc pallor	1/1	OMIM:180100
25974	MMACHC	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:79282
25974	MMACHC	HP:0001873	Thrombocytopenia	-	OMIM:277400
25974	MMACHC	HP:0000545	Myopia	-	OMIM:180100
25974	MMACHC	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:79282
25974	MMACHC	HP:0001875	Decreased total neutrophil count	-	OMIM:277400
25977	NECAP1	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
25977	NECAP1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
25977	NECAP1	HP:0001290	Generalized hypotonia	4/4	OMIM:615833
25977	NECAP1	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0001250	Seizure	HP:0040282	ORPHA:442835
25977	NECAP1	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
25977	NECAP1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
25977	NECAP1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
25977	NECAP1	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0002509	Limb hypertonia	4/4	OMIM:615833
25977	NECAP1	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
25977	NECAP1	HP:0031165	Multifocal seizures	4/4	OMIM:615833
25977	NECAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615833
25977	NECAP1	HP:0001337	Tremor	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0008936	Axial hypotonia	4/4	OMIM:615833
25977	NECAP1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
25977	NECAP1	HP:0003577	Congenital onset	4/4	OMIM:615833
25977	NECAP1	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0200134	Epileptic encephalopathy	4/4	OMIM:615833
25977	NECAP1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0011968	Feeding difficulties	4/4	OMIM:615833
25977	NECAP1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
25977	NECAP1	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
25977	NECAP1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0010818	Generalized tonic seizure	4/4	OMIM:615833
25977	NECAP1	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
25977	NECAP1	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0004322	Short stature	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0012736	Profound global developmental delay	4/4	OMIM:615833
25977	NECAP1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
25977	NECAP1	HP:0000717	Autism	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
25977	NECAP1	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0001558	Decreased fetal movement	4/4	OMIM:615833
25977	NECAP1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
25977	NECAP1	HP:0000348	High forehead	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0011182	Interictal epileptiform activity	4/4	OMIM:615833
25977	NECAP1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0012444	Brain atrophy	2/2	OMIM:615833
25977	NECAP1	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
25977	NECAP1	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
25977	NECAP1	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
25977	NECAP1	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
25978	CHMP2B	HP:0002493	Upper motor neuron dysfunction	HP:0040283	ORPHA:275864
25978	CHMP2B	HP:0002465	Poor speech	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0002463	Language impairment	HP:0040283	ORPHA:803
25978	CHMP2B	HP:0002442	Dyscalculia	-	OMIM:600795
25978	CHMP2B	HP:0002442	Dyscalculia	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0002446	Astrocytosis	-	OMIM:600795
25978	CHMP2B	HP:0002446	Astrocytosis	HP:0040283	ORPHA:275864
25978	CHMP2B	HP:0002446	Astrocytosis	HP:0040283	ORPHA:100070
25978	CHMP2B	HP:0002427	Expressive aphasia	HP:0040283	ORPHA:100070
25978	CHMP2B	HP:0001297	Stroke	-	ORPHA:100070
25978	CHMP2B	HP:0001268	Mental deterioration	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0001268	Mental deterioration	HP:0040281	ORPHA:100070
25978	CHMP2B	HP:0001288	Gait disturbance	-	OMIM:600795
25978	CHMP2B	HP:0001288	Gait disturbance	HP:0040283	ORPHA:275864
25978	CHMP2B	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0001257	Spasticity	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
25978	CHMP2B	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
25978	CHMP2B	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0002529	Neuronal loss in central nervous system	-	OMIM:600795
25978	CHMP2B	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:275864
25978	CHMP2B	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:100070
25978	CHMP2B	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
25978	CHMP2B	HP:0000020	Urinary incontinence	-	OMIM:600795
25978	CHMP2B	HP:0001347	Hyperreflexia	-	OMIM:600795
25978	CHMP2B	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:275864
25978	CHMP2B	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0001332	Dystonia	-	OMIM:600795
25978	CHMP2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:600795
25978	CHMP2B	HP:0001336	Myoclonus	-	OMIM:600795
25978	CHMP2B	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
25978	CHMP2B	HP:0001300	Parkinsonism	HP:0040283	ORPHA:100070
25978	CHMP2B	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
25978	CHMP2B	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
25978	CHMP2B	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:275864
25978	CHMP2B	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0002063	Rigidity	-	OMIM:600795
25978	CHMP2B	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:275864
25978	CHMP2B	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:100070
25978	CHMP2B	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
25978	CHMP2B	HP:0002145	Frontotemporal dementia	-	OMIM:600795
25978	CHMP2B	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
25978	CHMP2B	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:100070
25978	CHMP2B	HP:0003470	Paralysis	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0003487	Babinski sign	-	OMIM:600795
25978	CHMP2B	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0002120	Cerebral cortical atrophy	-	OMIM:600795
25978	CHMP2B	HP:0002186	Apraxia	HP:0040282	ORPHA:100070
25978	CHMP2B	HP:0002185	Neurofibrillary tangles	-	ORPHA:100070
25978	CHMP2B	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
25978	CHMP2B	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:100069
25978	CHMP2B	HP:0010529	Echolalia	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0010522	Dyslexia	HP:0040282	ORPHA:100069
25978	CHMP2B	HP:0010522	Dyslexia	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0010526	Dysgraphia	HP:0040282	ORPHA:100069
25978	CHMP2B	HP:0010526	Dysgraphia	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0010526	Dysgraphia	HP:0040283	ORPHA:100070
25978	CHMP2B	HP:0010523	Alexia	HP:0040282	ORPHA:100069
25978	CHMP2B	HP:0010523	Alexia	HP:0040282	ORPHA:100070
25978	CHMP2B	HP:0003596	Middle age onset	-	OMIM:600795
25978	CHMP2B	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0002380	Fasciculations	HP:0040283	ORPHA:275864
25978	CHMP2B	HP:0002381	Aphasia	HP:0040281	ORPHA:100069
25978	CHMP2B	HP:0002381	Aphasia	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0002381	Aphasia	HP:0040281	ORPHA:100070
25978	CHMP2B	HP:0002366	Abnormal lower motor neuron morphology	HP:0040283	ORPHA:100070
25978	CHMP2B	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
25978	CHMP2B	HP:0002371	Loss of speech	-	OMIM:600795
25978	CHMP2B	HP:0002371	Loss of speech	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0002354	Memory impairment	-	OMIM:600795
25978	CHMP2B	HP:0002354	Memory impairment	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0002354	Memory impairment	HP:0040281	ORPHA:100070
25978	CHMP2B	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
25978	CHMP2B	HP:0007112	Temporal cortical atrophy	HP:0040281	ORPHA:100070
25978	CHMP2B	HP:0002300	Mutism	-	OMIM:600795
25978	CHMP2B	HP:0002300	Mutism	HP:0040283	ORPHA:275864
25978	CHMP2B	HP:0002300	Mutism	HP:0040283	ORPHA:100070
25978	CHMP2B	HP:0002310	Orofacial dyskinesia	-	OMIM:600795
25978	CHMP2B	HP:0002307	Drooling	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0006892	Frontotemporal cerebral atrophy	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0006892	Frontotemporal cerebral atrophy	HP:0040281	ORPHA:100070
25978	CHMP2B	HP:0012671	Abulia	HP:0040282	ORPHA:100069
25978	CHMP2B	HP:0012671	Abulia	HP:0040283	ORPHA:275864
25978	CHMP2B	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
25978	CHMP2B	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:275864
25978	CHMP2B	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:100070
25978	CHMP2B	HP:0006977	Deficit in grammar	HP:0040281	ORPHA:100070
25978	CHMP2B	HP:0004326	Cachexia	HP:0040283	ORPHA:803
25978	CHMP2B	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0030692	Brain neoplasm	-	ORPHA:100070
25978	CHMP2B	HP:0000757	Lack of insight	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0000757	Lack of insight	-	OMIM:600795
25978	CHMP2B	HP:0000751	Personality changes	-	OMIM:600795
25978	CHMP2B	HP:0000751	Personality changes	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0000751	Personality changes	HP:0040283	ORPHA:100070
25978	CHMP2B	HP:0000737	Irritability	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0000739	Anxiety	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0000739	Anxiety	HP:0040282	ORPHA:100070
25978	CHMP2B	HP:0000734	Disinhibition	-	OMIM:600795
25978	CHMP2B	HP:0000734	Disinhibition	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0000733	Motor stereotypy	-	OMIM:600795
25978	CHMP2B	HP:0000733	Motor stereotypy	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0000741	Apathy	-	OMIM:600795
25978	CHMP2B	HP:0000741	Apathy	HP:0040283	ORPHA:275864
25978	CHMP2B	HP:0000743	Frontal release signs	-	OMIM:600795
25978	CHMP2B	HP:0000719	Inappropriate behavior	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0000719	Inappropriate behavior	-	OMIM:600795
25978	CHMP2B	HP:0000716	Depression	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0000716	Depression	HP:0040282	ORPHA:100070
25978	CHMP2B	HP:0000718	Aggressive behavior	-	OMIM:600795
25978	CHMP2B	HP:0000718	Aggressive behavior	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0000711	Restlessness	-	OMIM:600795
25978	CHMP2B	HP:0000711	Restlessness	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0000711	Restlessness	HP:0040283	ORPHA:100070
25978	CHMP2B	HP:0000710	Hyperorality	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0000710	Hyperorality	-	OMIM:600795
25978	CHMP2B	HP:0000726	Dementia	HP:0040282	ORPHA:100069
25978	CHMP2B	HP:0000723	Restrictive behavior	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0000709	Psychosis	HP:0040283	ORPHA:275864
25978	CHMP2B	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0000708	Atypical behavior	HP:0040283	ORPHA:100070
25978	CHMP2B	HP:0000708	Atypical behavior	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
25978	CHMP2B	HP:0030784	Anomic aphasia	HP:0040281	ORPHA:100069
25978	CHMP2B	HP:0100315	Lewy bodies	-	ORPHA:100070
25978	CHMP2B	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0100256	Senile plaques	HP:0040283	ORPHA:100070
25978	CHMP2B	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0012378	Fatigue	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0030213	Emotional dearth	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0030212	Collectionism	HP:0040282	ORPHA:275864
25978	CHMP2B	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0030223	Perseverative thought	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0030223	Perseverative thought	HP:0040283	ORPHA:100070
25978	CHMP2B	HP:0030222	Visual agnosia	HP:0040281	ORPHA:100069
25978	CHMP2B	HP:0012444	Brain atrophy	HP:0040281	ORPHA:100069
25978	CHMP2B	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:275864
25978	CHMP2B	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:100070
25978	CHMP2B	HP:0001824	Weight loss	HP:0040282	ORPHA:803
25978	CHMP2B	HP:0011204	EEG with continuous slow activity	HP:0040282	ORPHA:275864
25978	CHMP2B	HP:0011204	EEG with continuous slow activity	HP:0040282	ORPHA:100070
25978	CHMP2B	HP:0030391	Spoken word recognition deficit	HP:0040281	ORPHA:100070
25978	CHMP2B	HP:0012531	Pain	HP:0040282	ORPHA:803
25981	DNAH1	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
25981	DNAH1	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
25981	DNAH1	HP:0001217	Clubbing	HP:0040283	ORPHA:244
25981	DNAH1	HP:0012020	Right aortic arch	1/1	OMIM:617577
25981	DNAH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617576
25981	DNAH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617577
25981	DNAH1	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
25981	DNAH1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
25981	DNAH1	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
25981	DNAH1	HP:0032558	Absent sperm flagella	7/7	OMIM:617576
25981	DNAH1	HP:0032559	Short sperm flagella	7/7	OMIM:617576
25981	DNAH1	HP:0032560	Coiled sperm flagella	7/7	OMIM:617576
25981	DNAH1	HP:0031245	Productive cough	HP:0040282	ORPHA:244
25981	DNAH1	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
25981	DNAH1	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
25981	DNAH1	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
25981	DNAH1	HP:0002110	Bronchiectasis	1/1	OMIM:617577
25981	DNAH1	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
25981	DNAH1	HP:0008222	Female infertility	1/1	OMIM:617577
25981	DNAH1	HP:0008222	Female infertility	HP:0040283	ORPHA:244
25981	DNAH1	HP:0002257	Chronic rhinitis	1/1	OMIM:617577
25981	DNAH1	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
25981	DNAH1	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
25981	DNAH1	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
25981	DNAH1	HP:0033393	Irregularly shaped sperm tail	7/7	OMIM:617576
25981	DNAH1	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
25981	DNAH1	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
25981	DNAH1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
25981	DNAH1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
25981	DNAH1	HP:0011463	Childhood onset	1/1	OMIM:617577
25981	DNAH1	HP:0011462	Young adult onset	7/7	OMIM:617576
25981	DNAH1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
25981	DNAH1	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
25981	DNAH1	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
25981	DNAH1	HP:0000853	Goiter	1/1	OMIM:617577
25981	DNAH1	HP:0000821	Hypothyroidism	1/1	OMIM:617577
25981	DNAH1	HP:0030828	Wheezing	1/1	OMIM:617577
25981	DNAH1	HP:0030828	Wheezing	HP:0040283	ORPHA:244
25981	DNAH1	HP:0003251	Male infertility	7/7	OMIM:617576
25981	DNAH1	HP:0003251	Male infertility	HP:0040282	ORPHA:244
25981	DNAH1	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
25981	DNAH1	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
25981	DNAH1	HP:0031417	Rhinorrhea	1/1	OMIM:617577
25981	DNAH1	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
25981	DNAH1	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
25981	DNAH1	HP:0012207	Reduced sperm motility	7/7	OMIM:617576
25981	DNAH1	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
25981	DNAH1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
25981	DNAH1	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
25981	DNAH1	HP:0001696	Situs inversus totalis	1/1	OMIM:617577
25981	DNAH1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
25981	DNAH1	HP:0000365	Hearing impairment	1/1	OMIM:617577
25981	DNAH1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
25981	DNAH1	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
25981	DNAH1	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
25981	DNAH1	HP:0001651	Dextrocardia	1/1	OMIM:617577
25981	DNAH1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
25981	DNAH1	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
25981	DNAH1	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
25981	DNAH1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
25981	DNAH1	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
25981	DNAH1	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
25981	DNAH1	HP:0001746	Asplenia	HP:0040284	ORPHA:244
25981	DNAH1	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
25981	DNAH1	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
25981	DNAH1	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
25981	DNAH1	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
25981	DNAH1	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
26005	C2CD3	HP:0001162	Postaxial hand polydactyly	2/2	OMIM:615948
26005	C2CD3	HP:0001162	Postaxial hand polydactyly	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0100954	Open operculum	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0010864	Intellectual disability, severe	1/1	OMIM:615948
26005	C2CD3	HP:0009879	Simplified gyral pattern	-	OMIM:615948
26005	C2CD3	HP:0002419	Molar tooth sign on MRI	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0002419	Molar tooth sign on MRI	1/2	OMIM:615948
26005	C2CD3	HP:0001290	Generalized hypotonia	-	OMIM:615948
26005	C2CD3	HP:0001252	Hypotonia	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0001263	Global developmental delay	-	OMIM:615948
26005	C2CD3	HP:0001263	Global developmental delay	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0008753	Aplasia of the epiglottis	1/2	OMIM:615948
26005	C2CD3	HP:0008753	Aplasia of the epiglottis	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0000039	Epispadias	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0000039	Epispadias	-	OMIM:615948
26005	C2CD3	HP:0000054	Micropenis	2/2	OMIM:615948
26005	C2CD3	HP:0001360	Holoprosencephaly	-	OMIM:615948
26005	C2CD3	HP:0000028	Cryptorchidism	-	OMIM:615948
26005	C2CD3	HP:0001344	Absent speech	-	OMIM:615948
26005	C2CD3	HP:0001338	Partial agenesis of the corpus callosum	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0001338	Partial agenesis of the corpus callosum	2/2	OMIM:615948
26005	C2CD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615948
26005	C2CD3	HP:0001305	Dandy-Walker malformation	-	OMIM:615948
26005	C2CD3	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0001320	Cerebellar vermis hypoplasia	2/2	OMIM:615948
26005	C2CD3	HP:0001321	Cerebellar hypoplasia	-	OMIM:615948
26005	C2CD3	HP:0000180	Lobulated tongue	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0000180	Lobulated tongue	1/2	OMIM:615948
26005	C2CD3	HP:0000191	Accessory oral frenulum	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0000175	Cleft palate	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0000175	Cleft palate	1/2	OMIM:615948
26005	C2CD3	HP:0410030	Cleft lip	1/2	OMIM:615948
26005	C2CD3	HP:0011802	Hamartoma of tongue	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0011802	Hamartoma of tongue	1/2	OMIM:615948
26005	C2CD3	HP:0002085	Occipital encephalocele	-	OMIM:615948
26005	C2CD3	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:615948
26005	C2CD3	HP:0002126	Polymicrogyria	-	OMIM:615948
26005	C2CD3	HP:0003429	CNS hypomyelination	1/1	OMIM:615948
26005	C2CD3	HP:0002198	Dilated fourth ventricle	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0010535	Sleep apnea	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0003577	Congenital onset	2/2	OMIM:615948
26005	C2CD3	HP:0007082	Dilated third ventricle	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0032118	Retinitis	-	OMIM:615948
26005	C2CD3	HP:0007165	Periventricular heterotopia	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0007165	Periventricular heterotopia	-	OMIM:615948
26005	C2CD3	HP:0010066	Duplication of phalanx of hallux	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0010051	Deviation of the hallux	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0010055	Broad hallux	2/2	OMIM:615948
26005	C2CD3	HP:0010055	Broad hallux	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0000695	Natal tooth	-	OMIM:615948
26005	C2CD3	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0000773	Short ribs	-	OMIM:615948
26005	C2CD3	HP:0010297	Bifid tongue	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0010297	Bifid tongue	-	OMIM:615948
26005	C2CD3	HP:0100258	Preaxial polydactyly	-	OMIM:615948
26005	C2CD3	HP:0000243	Trigonocephaly	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0000243	Trigonocephaly	1/1	OMIM:615948
26005	C2CD3	HP:0000252	Microcephaly	2/2	OMIM:615948
26005	C2CD3	HP:0000252	Microcephaly	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0001545	Anteriorly placed anus	-	OMIM:615948
26005	C2CD3	HP:0011069	Supernumerary tooth	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0011069	Supernumerary tooth	1/1	OMIM:615948
26005	C2CD3	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0000358	Posteriorly rotated ears	-	OMIM:615948
26005	C2CD3	HP:0000369	Low-set ears	-	OMIM:615948
26005	C2CD3	HP:0000340	Sloping forehead	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0000347	Micrognathia	-	OMIM:615948
26005	C2CD3	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0001643	Patent ductus arteriosus	-	OMIM:615948
26005	C2CD3	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0001629	Ventricular septal defect	-	OMIM:615948
26005	C2CD3	HP:0000308	Microretrognathia	1/1	OMIM:615948
26005	C2CD3	HP:0000308	Microretrognathia	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0001631	Atrial septal defect	-	OMIM:615948
26005	C2CD3	HP:0000480	Retinal coloboma	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0000480	Retinal coloboma	-	OMIM:615948
26005	C2CD3	HP:0012447	Abnormal myelination	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0000470	Short neck	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0000465	Webbed neck	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0000414	Bulbous nose	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0000506	Telecanthus	1/1	OMIM:615948
26005	C2CD3	HP:0000506	Telecanthus	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0001830	Postaxial foot polydactyly	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0012583	Unilateral renal hypoplasia	1/2	OMIM:615948
26005	C2CD3	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:434179
26005	C2CD3	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:615948
26005	C2CD3	HP:0000588	Optic disc coloboma	-	OMIM:615948
26007	TKFC	HP:0001131	Corneal dystrophy	HP:0040283	ORPHA:1369
26007	TKFC	HP:0001270	Motor delay	-	OMIM:618805
26007	TKFC	HP:0001263	Global developmental delay	-	OMIM:618805
26007	TKFC	HP:0001397	Hepatic steatosis	1/4	OMIM:618805
26007	TKFC	HP:0000007	Autosomal recessive inheritance	-	OMIM:618805
26007	TKFC	HP:0001321	Cerebellar hypoplasia	-	OMIM:618805
26007	TKFC	HP:0002028	Chronic diarrhea	-	OMIM:618805
26007	TKFC	HP:0002136	Broad-based gait	-	OMIM:618805
26007	TKFC	HP:0002188	Delayed CNS myelination	-	OMIM:618805
26007	TKFC	HP:0002240	Hepatomegaly	1/4	OMIM:618805
26007	TKFC	HP:0000639	Nystagmus	HP:0040281	ORPHA:1369
26007	TKFC	HP:0001935	Microcytic anemia	-	OMIM:618805
26007	TKFC	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/4	OMIM:618805
26007	TKFC	HP:0003073	Hypoalbuminemia	1/4	OMIM:618805
26007	TKFC	HP:0000750	Delayed speech and language development	-	OMIM:618805
26007	TKFC	HP:0003198	Myopathy	HP:0040281	ORPHA:1369
26007	TKFC	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:1369
26007	TKFC	HP:0003128	Lactic acidosis	-	OMIM:618805
26007	TKFC	HP:0001531	Failure to thrive in infancy	-	OMIM:618805
26007	TKFC	HP:0001644	Dilated cardiomyopathy	1/4	OMIM:618805
26007	TKFC	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:1369
26007	TKFC	HP:0006673	Reduced systolic function	1/4	OMIM:618805
26007	TKFC	HP:0001733	Pancreatitis	1/4	OMIM:618805
26007	TKFC	HP:0000486	Strabismus	HP:0040281	ORPHA:1369
26007	TKFC	HP:0000518	Cataract	HP:0040281	ORPHA:1369
26007	TKFC	HP:0000518	Cataract	3/4	OMIM:618805
26007	TKFC	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:1369
26007	TKFC	HP:0000501	Glaucoma	HP:0040283	ORPHA:1369
26007	TKFC	HP:0000568	Microphthalmia	1/4	OMIM:618805
26007	TKFC	HP:0000545	Myopia	HP:0040282	ORPHA:1369
26011	TENM4	HP:0003829	Typified by incomplete penetrance	-	OMIM:616736
26011	TENM4	HP:0003831	Typified by age-related disease onset	-	OMIM:616736
26011	TENM4	HP:0000006	Autosomal dominant inheritance	-	OMIM:616736
26011	TENM4	HP:0002080	Intention tremor	16/16	OMIM:616736
26011	TENM4	HP:0002067	Bradykinesia	0/15	OMIM:616736
26011	TENM4	HP:0002174	Postural tremor	18/18	OMIM:616736
26011	TENM4	HP:0003596	Middle age onset	2/21	OMIM:616736
26011	TENM4	HP:0003584	Late onset	1/21	OMIM:616736
26011	TENM4	HP:0003677	Slowly progressive	-	OMIM:616736
26011	TENM4	HP:0003621	Juvenile onset	7/21	OMIM:616736
26011	TENM4	HP:0031947	Tongue tremor	6/17	OMIM:616736
26011	TENM4	HP:0011463	Childhood onset	1/21	OMIM:616736
26011	TENM4	HP:0011462	Young adult onset	11/21	OMIM:616736
26011	TENM4	HP:0030186	Kinetic tremor	7/8	OMIM:616736
26012	NSMF	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:432
26012	NSMF	HP:0009921	Duane anomaly	1/3	OMIM:614838
26012	NSMF	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:432
26012	NSMF	HP:0008734	Decreased testicular size	-	OMIM:614838
26012	NSMF	HP:0008734	Decreased testicular size	1/1	OMIM:146110
26012	NSMF	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:432
26012	NSMF	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:432
26012	NSMF	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:614838
26012	NSMF	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
26012	NSMF	HP:0000054	Micropenis	-	OMIM:614838
26012	NSMF	HP:0000054	Micropenis	1/1	OMIM:146110
26012	NSMF	HP:0000054	Micropenis	HP:0040281	ORPHA:432
26012	NSMF	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:432
26012	NSMF	HP:0000028	Cryptorchidism	-	OMIM:146110
26012	NSMF	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:432
26012	NSMF	HP:0000027	Azoospermia	HP:0040281	ORPHA:432
26012	NSMF	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:432
26012	NSMF	HP:0000013	Hypoplasia of the uterus	HP:0040282	ORPHA:432
26012	NSMF	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
26012	NSMF	HP:0000006	Autosomal dominant inheritance	-	OMIM:614838
26012	NSMF	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:432
26012	NSMF	HP:0000175	Cleft palate	HP:0040283	ORPHA:432
26012	NSMF	HP:0000175	Cleft palate	-	OMIM:614838
26012	NSMF	HP:0410030	Cleft lip	-	OMIM:614838
26012	NSMF	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:432
26012	NSMF	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:432
26012	NSMF	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:432
26012	NSMF	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:432
26012	NSMF	HP:0011803	Bifid nose	1/3	OMIM:614838
26012	NSMF	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:432
26012	NSMF	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:432
26012	NSMF	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
26012	NSMF	HP:0002231	Sparse body hair	HP:0040281	ORPHA:432
26012	NSMF	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
26012	NSMF	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:432
26012	NSMF	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:432
26012	NSMF	HP:0003621	Juvenile onset	2/2	OMIM:146110
26012	NSMF	HP:0000802	Impotence	HP:0040281	ORPHA:432
26012	NSMF	HP:0000771	Gynecomastia	HP:0040282	ORPHA:432
26012	NSMF	HP:0000771	Gynecomastia	-	OMIM:614838
26012	NSMF	HP:0000771	Gynecomastia	0/1	OMIM:146110
26012	NSMF	HP:0000739	Anxiety	HP:0040282	ORPHA:432
26012	NSMF	HP:0000716	Depression	HP:0040282	ORPHA:432
26012	NSMF	HP:0000789	Infertility	HP:0040283	OMIM:146110
26012	NSMF	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:432
26012	NSMF	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
26012	NSMF	HP:0004409	Hyposmia	-	OMIM:614838
26012	NSMF	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
26012	NSMF	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:432
26012	NSMF	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:432
26012	NSMF	HP:0000823	Delayed puberty	HP:0040282	ORPHA:432
26012	NSMF	HP:0000939	Osteoporosis	-	OMIM:614838
26012	NSMF	HP:0000939	Osteoporosis	HP:0040282	ORPHA:432
26012	NSMF	HP:0000938	Osteopenia	HP:0040282	ORPHA:432
26012	NSMF	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:432
26012	NSMF	HP:0030084	Clinodactyly	-	OMIM:614838
26012	NSMF	HP:0030019	Increased female libido	HP:0040281	ORPHA:432
26012	NSMF	HP:0012385	Camptodactyly	HP:0040283	ORPHA:432
26012	NSMF	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:432
26012	NSMF	HP:0000316	Hypertelorism	HP:0040283	ORPHA:432
26012	NSMF	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:432
26012	NSMF	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:432
26012	NSMF	HP:0000458	Anosmia	1/3	OMIM:614838
26022	TMEM98	HP:0000006	Autosomal dominant inheritance	-	OMIM:615972
26022	TMEM98	HP:0007663	Reduced visual acuity	9/9	OMIM:615972
26022	TMEM98	HP:0012109	Angle closure glaucoma	3/9	OMIM:615972
26022	TMEM98	HP:0003577	Congenital onset	9/9	OMIM:615972
26022	TMEM98	HP:0008499	High hypermetropia	HP:0040281	ORPHA:35612
26022	TMEM98	HP:0000610	Abnormal choroid morphology	HP:0040281	ORPHA:35612
26022	TMEM98	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:35612
26022	TMEM98	HP:0000486	Strabismus	HP:0040281	ORPHA:35612
26022	TMEM98	HP:0012426	Optic disc drusen	HP:0040283	OMIM:615972
26022	TMEM98	HP:0000501	Glaucoma	HP:0040281	ORPHA:35612
26022	TMEM98	HP:0000568	Microphthalmia	HP:0040281	ORPHA:35612
26022	TMEM98	HP:0000568	Microphthalmia	9/9	OMIM:615972
26022	TMEM98	HP:0000540	Hypermetropia	9/9	OMIM:615972
26038	CHD5	HP:0008551	Microtia	1/16	OMIM:619873
26038	CHD5	HP:0001270	Motor delay	9/16	OMIM:619873
26038	CHD5	HP:0001250	Seizure	10/16	OMIM:619873
26038	CHD5	HP:0001252	Hypotonia	7/14	OMIM:619873
26038	CHD5	HP:0001249	Intellectual disability	9/14	OMIM:619873
26038	CHD5	HP:0001363	Craniosynostosis	3/7	OMIM:619873
26038	CHD5	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
26038	CHD5	HP:0000006	Autosomal dominant inheritance	-	OMIM:619873
26038	CHD5	HP:0002619	Varicose veins	-	OMIM:153400
26038	CHD5	HP:0012166	Skin-picking	1/11	OMIM:619873
26038	CHD5	HP:0000175	Cleft palate	5/39	OMIM:153400
26038	CHD5	HP:0002007	Frontal bossing	2/16	OMIM:619873
26038	CHD5	HP:0003593	Infantile onset	-	OMIM:619873
26038	CHD5	HP:0100716	Self-injurious behavior	3/11	OMIM:619873
26038	CHD5	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
26038	CHD5	HP:0009743	Distichiasis	42/42	OMIM:153400
26038	CHD5	HP:0007018	Attention deficit hyperactivity disorder	1/11	OMIM:619873
26038	CHD5	HP:0001004	Lymphedema	-	OMIM:153400
26038	CHD5	HP:0100658	Cellulitis	2/6	OMIM:153400
26038	CHD5	HP:0000613	Photophobia	10/49	OMIM:153400
26038	CHD5	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
26038	CHD5	HP:0000656	Ectropion	2/43	OMIM:153400
26038	CHD5	HP:0000664	Synophrys	2/16	OMIM:619873
26038	CHD5	HP:0003011	Abnormality of the musculature	-	OMIM:153400
26038	CHD5	HP:0000750	Delayed speech and language development	13/16	OMIM:619873
26038	CHD5	HP:0000718	Aggressive behavior	3/11	OMIM:619873
26038	CHD5	HP:0000729	Autistic behavior	5/11	OMIM:619873
26038	CHD5	HP:0000722	Compulsive behaviors	3/11	OMIM:619873
26038	CHD5	HP:0012804	Corneal ulceration	-	OMIM:153400
26038	CHD5	HP:0010310	Chylothorax	1/6	OMIM:153400
26038	CHD5	HP:0011675	Arrhythmia	-	OMIM:153400
26038	CHD5	HP:0000286	Epicanthus	2/16	OMIM:619873
26038	CHD5	HP:0002808	Kyphosis	2/5	OMIM:153400
26038	CHD5	HP:0000204	Cleft upper lip	-	OMIM:153400
26038	CHD5	HP:0000378	Cupped ear	1/16	OMIM:619873
26038	CHD5	HP:0000358	Posteriorly rotated ears	2/16	OMIM:619873
26038	CHD5	HP:0000369	Low-set ears	1/16	OMIM:619873
26038	CHD5	HP:0000347	Micrognathia	2/16	OMIM:619873
26038	CHD5	HP:0000347	Micrognathia	2/5	OMIM:153400
26038	CHD5	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
26038	CHD5	HP:0000322	Short philtrum	3/16	OMIM:619873
26038	CHD5	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
26038	CHD5	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
26038	CHD5	HP:0005274	Prominent nasal tip	3/16	OMIM:619873
26038	CHD5	HP:0000476	Cystic hygroma	2/43	OMIM:153400
26038	CHD5	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
26038	CHD5	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
26038	CHD5	HP:0000465	Webbed neck	6/43	OMIM:153400
26038	CHD5	HP:0000426	Prominent nasal bridge	3/16	OMIM:619873
26038	CHD5	HP:0000509	Conjunctivitis	-	OMIM:153400
26038	CHD5	HP:0000508	Ptosis	2/39	OMIM:153400
26038	CHD5	HP:0000582	Upslanted palpebral fissure	3/16	OMIM:619873
26038	CHD5	HP:0000568	Microphthalmia	1/6	OMIM:153400
26040	SETBP1	HP:0001162	Postaxial hand polydactyly	-	OMIM:269150
26040	SETBP1	HP:0008628	Abnormal stapes morphology	HP:0040283	ORPHA:798
26040	SETBP1	HP:0008610	Infantile sensorineural hearing impairment	HP:0040283	ORPHA:798
26040	SETBP1	HP:0025161	Frequent temper tantrums	8/34	OMIM:616078
26040	SETBP1	HP:0009882	Short distal phalanx of finger	-	OMIM:269150
26040	SETBP1	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:798
26040	SETBP1	HP:0025259	Stiff elbow	HP:0040284	ORPHA:798
26040	SETBP1	HP:0001276	Hypertonia	1/27	OMIM:616078
26040	SETBP1	HP:0001276	Hypertonia	HP:0040284	ORPHA:798
26040	SETBP1	HP:0001270	Motor delay	33/34	OMIM:616078
26040	SETBP1	HP:0001250	Seizure	HP:0040282	ORPHA:798
26040	SETBP1	HP:0001250	Seizure	7/33	OMIM:616078
26040	SETBP1	HP:0001250	Seizure	-	OMIM:269150
26040	SETBP1	HP:0001252	Hypotonia	14/27	OMIM:616078
26040	SETBP1	HP:0001249	Intellectual disability	23/30	OMIM:616078
26040	SETBP1	HP:0001249	Intellectual disability	-	OMIM:269150
26040	SETBP1	HP:0001263	Global developmental delay	1/4	OMIM:616078
26040	SETBP1	HP:0001257	Spasticity	HP:0040284	ORPHA:798
26040	SETBP1	HP:0002557	Hypoplastic nipples	-	OMIM:269150
26040	SETBP1	HP:0002521	Hypsarrhythmia	-	OMIM:269150
26040	SETBP1	HP:0002521	Hypsarrhythmia	HP:0040284	ORPHA:798
26040	SETBP1	HP:0000064	Hypoplastic labia minora	-	OMIM:269150
26040	SETBP1	HP:0000059	Hypoplastic labia majora	-	OMIM:269150
26040	SETBP1	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:798
26040	SETBP1	HP:0000072	Hydroureter	-	OMIM:269150
26040	SETBP1	HP:0000071	Ureteral stenosis	-	OMIM:269150
26040	SETBP1	HP:0000069	Abnormality of the ureter	HP:0040284	ORPHA:798
26040	SETBP1	HP:0000046	Small scrotum	-	OMIM:269150
26040	SETBP1	HP:0000054	Micropenis	-	OMIM:269150
26040	SETBP1	HP:0000054	Micropenis	HP:0040284	ORPHA:798
26040	SETBP1	HP:0001385	Hip dysplasia	1/6	OMIM:616078
26040	SETBP1	HP:0000047	Hypospadias	-	OMIM:269150
26040	SETBP1	HP:0000047	Hypospadias	HP:0040284	ORPHA:798
26040	SETBP1	HP:0000023	Inguinal hernia	HP:0040284	ORPHA:798
26040	SETBP1	HP:0002694	Sclerosis of skull base	-	OMIM:269150
26040	SETBP1	HP:0002694	Sclerosis of skull base	HP:0040283	ORPHA:798
26040	SETBP1	HP:0000028	Cryptorchidism	3/13	OMIM:616078
26040	SETBP1	HP:0008897	Postnatal growth retardation	-	OMIM:269150
26040	SETBP1	HP:0001344	Absent speech	2/6	OMIM:616078
26040	SETBP1	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:798
26040	SETBP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:269150
26040	SETBP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616078
26040	SETBP1	HP:0002650	Scoliosis	HP:0040284	ORPHA:798
26040	SETBP1	HP:0002645	Wormian bones	-	OMIM:269150
26040	SETBP1	HP:0002645	Wormian bones	HP:0040283	ORPHA:798
26040	SETBP1	HP:0000187	Broad alveolar ridges	HP:0040283	ORPHA:798
26040	SETBP1	HP:0000189	Narrow palate	-	OMIM:616078
26040	SETBP1	HP:0000194	Open mouth	1/6	OMIM:616078
26040	SETBP1	HP:0000160	Narrow mouth	1/6	OMIM:616078
26040	SETBP1	HP:0000158	Macroglossia	-	OMIM:269150
26040	SETBP1	HP:0000158	Macroglossia	HP:0040282	ORPHA:798
26040	SETBP1	HP:0000168	Abnormality of the gingiva	HP:0040283	ORPHA:798
26040	SETBP1	HP:0000154	Wide mouth	HP:0040282	ORPHA:798
26040	SETBP1	HP:0000126	Hydronephrosis	-	OMIM:269150
26040	SETBP1	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:798
26040	SETBP1	HP:0000107	Renal cyst	HP:0040284	ORPHA:798
26040	SETBP1	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:798
26040	SETBP1	HP:0002015	Dysphagia	HP:0040284	ORPHA:798
26040	SETBP1	HP:0002007	Frontal bossing	1/6	OMIM:616078
26040	SETBP1	HP:0002007	Frontal bossing	HP:0040281	ORPHA:798
26040	SETBP1	HP:0003307	Hyperlordosis	1/6	OMIM:616078
26040	SETBP1	HP:0011800	Midface retrusion	-	OMIM:269150
26040	SETBP1	HP:0011800	Midface retrusion	HP:0040281	ORPHA:798
26040	SETBP1	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:798
26040	SETBP1	HP:0002098	Respiratory distress	HP:0040283	ORPHA:798
26040	SETBP1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:269150
26040	SETBP1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:798
26040	SETBP1	HP:0002059	Cerebral atrophy	-	OMIM:269150
26040	SETBP1	HP:0010464	Streak ovary	HP:0040283	ORPHA:798
26040	SETBP1	HP:0011787	Central hypothyroidism	HP:0040284	ORPHA:798
26040	SETBP1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:798
26040	SETBP1	HP:0002119	Ventriculomegaly	-	OMIM:269150
26040	SETBP1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:798
26040	SETBP1	HP:0002197	Generalized-onset seizure	1/6	OMIM:616078
26040	SETBP1	HP:0002190	Choroid plexus cyst	HP:0040283	ORPHA:798
26040	SETBP1	HP:0002179	Opisthotonus	-	OMIM:269150
26040	SETBP1	HP:0010554	Cutaneous finger syndactyly	1/6	OMIM:616078
26040	SETBP1	HP:0010557	Overlapping fingers	HP:0040283	ORPHA:798
26040	SETBP1	HP:0003593	Infantile onset	4/4	OMIM:616078
26040	SETBP1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:798
26040	SETBP1	HP:0100716	Self-injurious behavior	3/34	OMIM:616078
26040	SETBP1	HP:0009748	Large earlobe	HP:0040284	ORPHA:798
26040	SETBP1	HP:0007018	Attention deficit hyperactivity disorder	6/34	OMIM:616078
26040	SETBP1	HP:0032075	Splenopancreatic fusion	HP:0040284	OMIM:269150
26040	SETBP1	HP:0007099	Chiari type I malformation	HP:0040283	ORPHA:798
26040	SETBP1	HP:0001052	Nevus flammeus	1/6	OMIM:616078
26040	SETBP1	HP:0002381	Aphasia	1/6	OMIM:616078
26040	SETBP1	HP:0002360	Sleep abnormality	4/34	OMIM:616078
26040	SETBP1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/6	OMIM:616078
26040	SETBP1	HP:0001007	Hirsutism	1/6	OMIM:616078
26040	SETBP1	HP:0009792	Teratoma	-	OMIM:269150
26040	SETBP1	HP:0009792	Teratoma	HP:0040283	ORPHA:798
26040	SETBP1	HP:0010055	Broad hallux	2/6	OMIM:616078
26040	SETBP1	HP:0010034	Short 1st metacarpal	-	OMIM:269150
26040	SETBP1	HP:0010034	Short 1st metacarpal	HP:0040283	ORPHA:798
26040	SETBP1	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:798
26040	SETBP1	HP:0000678	Dental crowding	1/6	OMIM:616078
26040	SETBP1	HP:0000664	Synophrys	2/6	OMIM:616078
26040	SETBP1	HP:0012745	Short palpebral fissure	1/6	OMIM:616078
26040	SETBP1	HP:0009104	Aplasia/Hypoplasia of the pubic bone	-	OMIM:269150
26040	SETBP1	HP:0000752	Hyperactivity	1/6	OMIM:616078
26040	SETBP1	HP:0012736	Profound global developmental delay	HP:0040281	ORPHA:798
26040	SETBP1	HP:0000765	Abnormal thorax morphology	HP:0040283	ORPHA:798
26040	SETBP1	HP:0000739	Anxiety	8/34	OMIM:616078
26040	SETBP1	HP:0000750	Delayed speech and language development	33/34	OMIM:616078
26040	SETBP1	HP:0000718	Aggressive behavior	7/34	OMIM:616078
26040	SETBP1	HP:0000729	Autistic behavior	4/34	OMIM:616078
26040	SETBP1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040284	ORPHA:798
26040	SETBP1	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:798
26040	SETBP1	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:798
26040	SETBP1	HP:0030736	Sacrococcygeal teratoma	-	OMIM:269150
26040	SETBP1	HP:0030736	Sacrococcygeal teratoma	HP:0040284	ORPHA:798
26040	SETBP1	HP:0003196	Short nose	-	OMIM:269150
26040	SETBP1	HP:0003196	Short nose	HP:0040281	ORPHA:798
26040	SETBP1	HP:0003173	Hypoplastic pubic bone	HP:0040283	ORPHA:798
26040	SETBP1	HP:0004492	Widely patent fontanelles and sutures	-	OMIM:269150
26040	SETBP1	HP:0000879	Short sternum	-	OMIM:269150
26040	SETBP1	HP:0000890	Long clavicles	-	OMIM:269150
26040	SETBP1	HP:0000889	Abnormal clavicle morphology	HP:0040283	ORPHA:798
26040	SETBP1	HP:0000885	Broad ribs	-	OMIM:269150
26040	SETBP1	HP:0000885	Broad ribs	HP:0040282	ORPHA:798
26040	SETBP1	HP:0000813	Bicornuate uterus	-	OMIM:269150
26040	SETBP1	HP:0010296	Ankyloglossia	5/22	OMIM:616078
26040	SETBP1	HP:0004554	Generalized hypertrichosis	HP:0040282	ORPHA:798
26040	SETBP1	HP:0000998	Hypertrichosis	-	OMIM:269150
26040	SETBP1	HP:0000954	Single transverse palmar crease	-	OMIM:269150
26040	SETBP1	HP:0000935	Thickened cortex of long bones	-	OMIM:269150
26040	SETBP1	HP:0045005	Neural tube defect	HP:0040283	ORPHA:798
26040	SETBP1	HP:0000280	Coarse facial features	-	OMIM:269150
26040	SETBP1	HP:0000280	Coarse facial features	HP:0040284	ORPHA:798
26040	SETBP1	HP:0000278	Retrognathia	HP:0040283	ORPHA:798
26040	SETBP1	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:798
26040	SETBP1	HP:0000276	Long face	1/6	OMIM:616078
26040	SETBP1	HP:0000272	Malar flattening	-	OMIM:269150
26040	SETBP1	HP:0006392	Increased density of long bones	-	OMIM:269150
26040	SETBP1	HP:0006387	Wide distal femoral metaphysis	-	OMIM:269150
26040	SETBP1	HP:0000248	Brachycephaly	1/6	OMIM:616078
26040	SETBP1	HP:0002884	Hepatoblastoma	-	OMIM:269150
26040	SETBP1	HP:0002884	Hepatoblastoma	HP:0040284	ORPHA:798
26040	SETBP1	HP:0000219	Thin upper lip vermilion	1/6	OMIM:616078
26040	SETBP1	HP:0000218	High palate	HP:0040283	ORPHA:798
26040	SETBP1	HP:0000218	High palate	3/6	OMIM:616078
26040	SETBP1	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:798
26040	SETBP1	HP:0002888	Ependymoma	HP:0040284	ORPHA:798
26040	SETBP1	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:798
26040	SETBP1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:798
26040	SETBP1	HP:0001508	Failure to thrive	-	OMIM:269150
26040	SETBP1	HP:0001513	Obesity	1/6	OMIM:616078
26040	SETBP1	HP:0011097	Epileptic spasm	HP:0040284	ORPHA:798
26040	SETBP1	HP:0012385	Camptodactyly	HP:0040284	ORPHA:798
26040	SETBP1	HP:0011039	Abnormal helix morphology	HP:0040282	ORPHA:798
26040	SETBP1	HP:0006532	Recurrent pneumonia	HP:0040284	ORPHA:798
26040	SETBP1	HP:0002938	Lumbar hyperlordosis	1/6	OMIM:616078
26040	SETBP1	HP:0001605	Vocal cord paralysis	HP:0040284	ORPHA:798
26040	SETBP1	HP:0001601	Laryngomalacia	HP:0040284	ORPHA:798
26040	SETBP1	HP:0000365	Hearing impairment	3/32	OMIM:616078
26040	SETBP1	HP:0000356	Abnormality of the outer ear	HP:0040282	ORPHA:798
26040	SETBP1	HP:0000375	Abnormal cochlea morphology	HP:0040283	ORPHA:798
26040	SETBP1	HP:0000369	Low-set ears	-	OMIM:269150
26040	SETBP1	HP:0000369	Low-set ears	HP:0040282	ORPHA:798
26040	SETBP1	HP:0000369	Low-set ears	3/6	OMIM:616078
26040	SETBP1	HP:0000341	Narrow forehead	HP:0040282	ORPHA:798
26040	SETBP1	HP:0000340	Sloping forehead	-	OMIM:269150
26040	SETBP1	HP:0000343	Long philtrum	2/6	OMIM:616078
26040	SETBP1	HP:0012324	Myeloid leukemia	HP:0040284	ORPHA:798
26040	SETBP1	HP:0000337	Broad forehead	HP:0040281	ORPHA:798
26040	SETBP1	HP:0000348	High forehead	-	OMIM:269150
26040	SETBP1	HP:0000347	Micrognathia	HP:0040283	ORPHA:798
26040	SETBP1	HP:0002982	Tibial bowing	-	OMIM:269150
26040	SETBP1	HP:0002982	Tibial bowing	HP:0040283	ORPHA:798
26040	SETBP1	HP:0000316	Hypertelorism	-	OMIM:269150
26040	SETBP1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:798
26040	SETBP1	HP:0000316	Hypertelorism	2/6	OMIM:616078
26040	SETBP1	HP:0002974	Radioulnar synostosis	HP:0040284	ORPHA:798
26040	SETBP1	HP:0000329	Facial hemangioma	-	OMIM:269150
26040	SETBP1	HP:0000329	Facial hemangioma	HP:0040282	ORPHA:798
26040	SETBP1	HP:0000322	Short philtrum	HP:0040284	ORPHA:798
26040	SETBP1	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:798
26040	SETBP1	HP:0000307	Pointed chin	1/6	OMIM:616078
26040	SETBP1	HP:0001631	Atrial septal defect	-	OMIM:269150
26040	SETBP1	HP:0005349	Hypoplasia of the epiglottis	HP:0040284	ORPHA:798
26040	SETBP1	HP:0006657	Hypoplasia of first ribs	-	OMIM:269150
26040	SETBP1	HP:0001739	Abnormal nasopharynx morphology	-	OMIM:269150
26040	SETBP1	HP:0001734	Annular pancreas	HP:0040283	ORPHA:798
26040	SETBP1	HP:0005280	Depressed nasal bridge	-	OMIM:269150
26040	SETBP1	HP:0000483	Astigmatism	3/29	OMIM:616078
26040	SETBP1	HP:0000486	Strabismus	4/29	OMIM:616078
26040	SETBP1	HP:0012471	Thick vermilion border	1/6	OMIM:616078
26040	SETBP1	HP:0000494	Downslanted palpebral fissures	1/6	OMIM:616078
26040	SETBP1	HP:0000490	Deeply set eye	1/6	OMIM:616078
26040	SETBP1	HP:0001795	Hyperconvex nail	-	OMIM:269150
26040	SETBP1	HP:0000463	Anteverted nares	-	OMIM:269150
26040	SETBP1	HP:0000455	Broad nasal tip	HP:0040281	ORPHA:798
26040	SETBP1	HP:0000470	Short neck	-	OMIM:269150
26040	SETBP1	HP:0000470	Short neck	HP:0040282	ORPHA:798
26040	SETBP1	HP:0000452	Choanal stenosis	-	OMIM:269150
26040	SETBP1	HP:0000452	Choanal stenosis	HP:0040283	ORPHA:798
26040	SETBP1	HP:0000445	Wide nose	1/6	OMIM:616078
26040	SETBP1	HP:0001762	Talipes equinovarus	-	OMIM:269150
26040	SETBP1	HP:0001761	Pes cavus	1/6	OMIM:616078
26040	SETBP1	HP:0005495	Metopic suture patent to nasal root	-	OMIM:269150
26040	SETBP1	HP:0001845	Overlapping toe	HP:0040283	ORPHA:798
26040	SETBP1	HP:0001852	Sandal gap	1/6	OMIM:616078
26040	SETBP1	HP:0000520	Proptosis	HP:0040282	ORPHA:798
26040	SETBP1	HP:0000522	Alacrima	HP:0040283	ORPHA:798
26040	SETBP1	HP:0000508	Ptosis	3/4	OMIM:616078
26040	SETBP1	HP:0000505	Visual impairment	14/29	OMIM:616078
26040	SETBP1	HP:0000505	Visual impairment	HP:0040282	ORPHA:798
26040	SETBP1	HP:0000586	Shallow orbits	-	OMIM:269150
26040	SETBP1	HP:0000586	Shallow orbits	HP:0040282	ORPHA:798
26040	SETBP1	HP:0011220	Prominent forehead	-	OMIM:269150
26040	SETBP1	HP:0000540	Hypermetropia	9/29	OMIM:616078
26040	SETBP1	HP:0000545	Myopia	3/29	OMIM:616078
26047	CNTNAP2	HP:0002465	Poor speech	HP:0040282	ORPHA:163681
26047	CNTNAP2	HP:0002465	Poor speech	-	OMIM:610042
26047	CNTNAP2	HP:0002463	Language impairment	-	OMIM:610042
26047	CNTNAP2	HP:0025160	Abnormal temper tantrums	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0010863	Receptive language delay	1/1	OMIM:610042
26047	CNTNAP2	HP:0010863	Receptive language delay	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:163681
26047	CNTNAP2	HP:0001290	Generalized hypotonia	-	OMIM:610042
26047	CNTNAP2	HP:0001270	Motor delay	HP:0040282	ORPHA:163681
26047	CNTNAP2	HP:0001268	Mental deterioration	HP:0040282	ORPHA:163681
26047	CNTNAP2	HP:0001284	Areflexia	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0001250	Seizure	HP:0040281	ORPHA:163681
26047	CNTNAP2	HP:0001250	Seizure	16/18	OMIM:610042
26047	CNTNAP2	HP:0001252	Hypotonia	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0001252	Hypotonia	16/27	OMIM:610042
26047	CNTNAP2	HP:0001251	Ataxia	6/12	OMIM:610042
26047	CNTNAP2	HP:0001251	Ataxia	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0001249	Intellectual disability	1/1	OMIM:610042
26047	CNTNAP2	HP:0001265	Hyporeflexia	8/16	OMIM:610042
26047	CNTNAP2	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:163681
26047	CNTNAP2	HP:0001263	Global developmental delay	57/64	OMIM:610042
26047	CNTNAP2	HP:0001257	Spasticity	2/10	OMIM:610042
26047	CNTNAP2	HP:0007359	Focal-onset seizure	HP:0040281	ORPHA:163681
26047	CNTNAP2	HP:0007359	Focal-onset seizure	9/9	OMIM:610042
26047	CNTNAP2	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:163681
26047	CNTNAP2	HP:0007334	Bilateral tonic-clonic seizure with focal onset	11/46	OMIM:610042
26047	CNTNAP2	HP:0012001	EEG with generalized polyspikes	HP:0040282	ORPHA:163681
26047	CNTNAP2	HP:0001332	Dystonia	0/8	OMIM:610042
26047	CNTNAP2	HP:0033725	Thin corpus callosum	4/38	OMIM:610042
26047	CNTNAP2	HP:0001344	Absent speech	-	OMIM:610042
26047	CNTNAP2	HP:0001344	Absent speech	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:610042
26047	CNTNAP2	HP:0001320	Cerebellar vermis hypoplasia	1/2	OMIM:610042
26047	CNTNAP2	HP:0001321	Cerebellar hypoplasia	1/2	OMIM:610042
26047	CNTNAP2	HP:0001315	Reduced tendon reflexes	-	OMIM:610042
26047	CNTNAP2	HP:0012171	Stereotypical hand wringing	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0012166	Skin-picking	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0000154	Wide mouth	3/43	OMIM:610042
26047	CNTNAP2	HP:0002019	Constipation	5/12	OMIM:610042
26047	CNTNAP2	HP:0002000	Short columella	1/43	OMIM:610042
26047	CNTNAP2	HP:0002007	Frontal bossing	1/7	OMIM:610042
26047	CNTNAP2	HP:0002069	Bilateral tonic-clonic seizure	12/12	OMIM:610042
26047	CNTNAP2	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0002059	Cerebral atrophy	2/36	OMIM:610042
26047	CNTNAP2	HP:0002133	Status epilepticus	3/9	OMIM:610042
26047	CNTNAP2	HP:0002197	Generalized-onset seizure	-	OMIM:610042
26047	CNTNAP2	HP:0002194	Delayed gross motor development	12/13	OMIM:610042
26047	CNTNAP2	HP:0003593	Infantile onset	16/35	OMIM:610042
26047	CNTNAP2	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:163681
26047	CNTNAP2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0004879	Intermittent hyperventilation	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0009748	Large earlobe	1/42	OMIM:610042
26047	CNTNAP2	HP:0100753	Schizophrenia	1/1	OMIM:610042
26047	CNTNAP2	HP:0007018	Attention deficit hyperactivity disorder	8/9	OMIM:610042
26047	CNTNAP2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0032046	Focal cortical dysplasia	2/16	OMIM:610042
26047	CNTNAP2	HP:0007074	Thick corpus callosum	1/38	OMIM:610042
26047	CNTNAP2	HP:0007064	Progressive language deterioration	-	OMIM:610042
26047	CNTNAP2	HP:0007064	Progressive language deterioration	HP:0040282	ORPHA:163681
26047	CNTNAP2	HP:0002384	Focal impaired awareness seizure	18/18	OMIM:610042
26047	CNTNAP2	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0002353	EEG abnormality	30/37	OMIM:610042
26047	CNTNAP2	HP:0002349	Focal aware seizure	3/9	OMIM:610042
26047	CNTNAP2	HP:0010845	EEG with generalized slow activity	HP:0040282	ORPHA:163681
26047	CNTNAP2	HP:0010819	Atonic seizure	2/38	OMIM:610042
26047	CNTNAP2	HP:0010804	Tented upper lip vermilion	2/43	OMIM:610042
26047	CNTNAP2	HP:0010808	Protruding tongue	1/43	OMIM:610042
26047	CNTNAP2	HP:0009765	Low hanging columella	1/43	OMIM:610042
26047	CNTNAP2	HP:0003621	Juvenile onset	2/2	OMIM:610042
26047	CNTNAP2	HP:0006855	Cerebellar vermis atrophy	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0006855	Cerebellar vermis atrophy	5/34	OMIM:610042
26047	CNTNAP2	HP:0000639	Nystagmus	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0000691	Microdontia	1/42	OMIM:610042
26047	CNTNAP2	HP:0000687	Widely spaced teeth	2/42	OMIM:610042
26047	CNTNAP2	HP:0000664	Synophrys	2/42	OMIM:610042
26047	CNTNAP2	HP:0006970	Periventricular leukomalacia	1/15	OMIM:610042
26047	CNTNAP2	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0031936	Delayed ability to walk	HP:0040281	ORPHA:163681
26047	CNTNAP2	HP:0000752	Hyperactivity	-	OMIM:610042
26047	CNTNAP2	HP:0000752	Hyperactivity	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0100021	Cerebral palsy	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0000733	Motor stereotypy	9/16	OMIM:610042
26047	CNTNAP2	HP:0000750	Delayed speech and language development	51/55	OMIM:610042
26047	CNTNAP2	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:163681
26047	CNTNAP2	HP:0000744	Low frustration tolerance	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0000742	Self-mutilation	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0000718	Aggressive behavior	14/33	OMIM:610042
26047	CNTNAP2	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0000717	Autism	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0000729	Autistic behavior	19/30	OMIM:610042
26047	CNTNAP2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0011463	Childhood onset	31/38	OMIM:610042
26047	CNTNAP2	HP:0011462	Young adult onset	1/1	OMIM:610042
26047	CNTNAP2	HP:0012757	Abnormal neuron morphology	HP:0040281	ORPHA:163681
26047	CNTNAP2	HP:0012760	Reduced social responsiveness	-	OMIM:610042
26047	CNTNAP2	HP:0030746	Intraventricular hemorrhage	9/38	OMIM:610042
26047	CNTNAP2	HP:0003196	Short nose	1/8	OMIM:610042
26047	CNTNAP2	HP:0034295	Reduced cerebral white matter volume	3/38	OMIM:610042
26047	CNTNAP2	HP:0000817	Reduced eye contact	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0000817	Reduced eye contact	6/14	OMIM:610042
26047	CNTNAP2	HP:0000826	Precocious puberty	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0045075	Sparse eyebrow	1/8	OMIM:610042
26047	CNTNAP2	HP:0100258	Preaxial polydactyly	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0000286	Epicanthus	1/43	OMIM:610042
26047	CNTNAP2	HP:0000280	Coarse facial features	1/50	OMIM:610042
26047	CNTNAP2	HP:0000294	Low anterior hairline	1/42	OMIM:610042
26047	CNTNAP2	HP:0000256	Macrocephaly	1/1	OMIM:610042
26047	CNTNAP2	HP:0000252	Microcephaly	5/9	OMIM:610042
26047	CNTNAP2	HP:0002883	Hyperventilation	8/45	OMIM:610042
26047	CNTNAP2	HP:0032661	Generalized convulsive status epilepticus	2/8	OMIM:610042
26047	CNTNAP2	HP:0000219	Thin upper lip vermilion	2/43	OMIM:610042
26047	CNTNAP2	HP:0000218	High palate	1/42	OMIM:610042
26047	CNTNAP2	HP:0001513	Obesity	1/1	OMIM:610042
26047	CNTNAP2	HP:0001513	Obesity	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0000365	Hearing impairment	0/12	OMIM:610042
26047	CNTNAP2	HP:0032752	Focal impaired awareness emotional seizure with fear/anxiety/panic	3/34	OMIM:610042
26047	CNTNAP2	HP:0000341	Narrow forehead	1/9	OMIM:610042
26047	CNTNAP2	HP:0000337	Broad forehead	1/43	OMIM:610042
26047	CNTNAP2	HP:0032792	Tonic seizure	11/38	OMIM:610042
26047	CNTNAP2	HP:0000319	Smooth philtrum	1/8	OMIM:610042
26047	CNTNAP2	HP:0000316	Hypertelorism	1/8	OMIM:610042
26047	CNTNAP2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0000322	Short philtrum	1/43	OMIM:610042
26047	CNTNAP2	HP:0000303	Mandibular prognathia	1/42	OMIM:610042
26047	CNTNAP2	HP:0011193	EEG with focal spikes	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0011198	EEG with generalized epileptiform discharges	HP:0040282	ORPHA:163681
26047	CNTNAP2	HP:0011182	Interictal epileptiform activity	HP:0040282	ORPHA:163681
26047	CNTNAP2	HP:0000400	Macrotia	1/43	OMIM:610042
26047	CNTNAP2	HP:0000486	Strabismus	3/3	OMIM:610042
26047	CNTNAP2	HP:0012469	Infantile spasms	1/9	OMIM:610042
26047	CNTNAP2	HP:0012471	Thick vermilion border	2/3	OMIM:610042
26047	CNTNAP2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0000414	Bulbous nose	2/44	OMIM:610042
26047	CNTNAP2	HP:0001761	Pes cavus	HP:0040283	ORPHA:163681
26047	CNTNAP2	HP:0000527	Long eyelashes	1/43	OMIM:610042
26047	CNTNAP2	HP:0000582	Upslanted palpebral fissure	2/43	OMIM:610042
26047	CNTNAP2	HP:0011220	Prominent forehead	1/43	OMIM:610042
26053	AUTS2	HP:0025112	Auditory sensitivity	3/10	OMIM:615834
26053	AUTS2	HP:0025112	Auditory sensitivity	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0010862	Delayed fine motor development	1/1	OMIM:615834
26053	AUTS2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0001290	Generalized hypotonia	8/21	OMIM:615834
26053	AUTS2	HP:0001276	Hypertonia	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0001276	Hypertonia	1/3	OMIM:615834
26053	AUTS2	HP:0001250	Seizure	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:352490
26053	AUTS2	HP:0001249	Intellectual disability	22/23	OMIM:615834
26053	AUTS2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0001263	Global developmental delay	22/23	OMIM:615834
26053	AUTS2	HP:0001257	Spasticity	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0008762	Repetitive compulsive behavior	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0002553	Highly arched eyebrow	9/23	OMIM:615834
26053	AUTS2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0000023	Inguinal hernia	1/21	OMIM:615834
26053	AUTS2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0006184	Decreased palmar creases	2/2	OMIM:615834
26053	AUTS2	HP:0006184	Decreased palmar creases	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:615834
26053	AUTS2	HP:0002650	Scoliosis	2/11	OMIM:615834
26053	AUTS2	HP:0002650	Scoliosis	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0000160	Narrow mouth	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0000160	Narrow mouth	12/23	OMIM:615834
26053	AUTS2	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0000154	Wide mouth	2/2	OMIM:615834
26053	AUTS2	HP:0002002	Deep philtrum	1/1	OMIM:615834
26053	AUTS2	HP:0009473	Joint contracture of the hand	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0003593	Infantile onset	4/5	OMIM:615834
26053	AUTS2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0011968	Feeding difficulties	12/23	OMIM:615834
26053	AUTS2	HP:0003623	Neonatal onset	1/2	OMIM:615834
26053	AUTS2	HP:0004209	Clinodactyly of the 5th finger	1/1	OMIM:615834
26053	AUTS2	HP:0004283	Narrow palm	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:352490
26053	AUTS2	HP:0004322	Short stature	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0004322	Short stature	13/22	OMIM:615834
26053	AUTS2	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0012745	Short palpebral fissure	9/23	OMIM:615834
26053	AUTS2	HP:0000752	Hyperactivity	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0000752	Hyperactivity	4/23	OMIM:615834
26053	AUTS2	HP:0100021	Cerebral palsy	9/21	OMIM:615834
26053	AUTS2	HP:0100021	Cerebral palsy	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0000750	Delayed speech and language development	2/3	OMIM:615834
26053	AUTS2	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:352490
26053	AUTS2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0000729	Autistic behavior	10/24	OMIM:615834
26053	AUTS2	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0009183	Joint contracture of the 5th finger	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0100277	Periauricular skin pits	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0000286	Epicanthus	8/24	OMIM:615834
26053	AUTS2	HP:0000286	Epicanthus	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0000278	Retrognathia	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0002808	Kyphosis	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0002808	Kyphosis	2/9	OMIM:615834
26053	AUTS2	HP:0002803	Congenital contracture	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0002804	Arthrogryposis multiplex congenita	2/2	OMIM:615834
26053	AUTS2	HP:0000252	Microcephaly	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0000252	Microcephaly	16/22	OMIM:615834
26053	AUTS2	HP:0000248	Brachycephaly	1/2	OMIM:615834
26053	AUTS2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0001537	Umbilical hernia	1/21	OMIM:615834
26053	AUTS2	HP:0001518	Small for gestational age	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0001518	Small for gestational age	7/17	OMIM:615834
26053	AUTS2	HP:0001511	Intrauterine growth retardation	1/2	OMIM:615834
26053	AUTS2	HP:0000369	Low-set ears	8/23	OMIM:615834
26053	AUTS2	HP:0000369	Low-set ears	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0000347	Micrognathia	9/24	OMIM:615834
26053	AUTS2	HP:0000347	Micrognathia	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0000316	Hypertelorism	10/23	OMIM:615834
26053	AUTS2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0000322	Short philtrum	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0000322	Short philtrum	10/23	OMIM:615834
26053	AUTS2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0005274	Prominent nasal tip	7/23	OMIM:615834
26053	AUTS2	HP:0005274	Prominent nasal tip	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0005280	Depressed nasal bridge	2/2	OMIM:615834
26053	AUTS2	HP:0000486	Strabismus	6/23	OMIM:615834
26053	AUTS2	HP:0000486	Strabismus	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0012471	Thick vermilion border	2/2	OMIM:615834
26053	AUTS2	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:615834
26053	AUTS2	HP:0000463	Anteverted nares	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0000463	Anteverted nares	3/23	OMIM:615834
26053	AUTS2	HP:0012443	Abnormal brain morphology	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0000431	Wide nasal bridge	8/22	OMIM:615834
26053	AUTS2	HP:0000520	Proptosis	HP:0040282	ORPHA:352490
26053	AUTS2	HP:0000520	Proptosis	7/23	OMIM:615834
26053	AUTS2	HP:0000508	Ptosis	10/23	OMIM:615834
26053	AUTS2	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:352490
26053	AUTS2	HP:0000582	Upslanted palpebral fissure	4/23	OMIM:615834
26053	AUTS2	HP:0000574	Thick eyebrow	1/2	OMIM:615834
26057	ANKRD17	HP:0009928	Thick nasal alae	9/24	OMIM:619504
26057	ANKRD17	HP:0009890	High anterior hairline	4/24	OMIM:619504
26057	ANKRD17	HP:0001270	Motor delay	20/29	OMIM:619504
26057	ANKRD17	HP:0001250	Seizure	9/33	OMIM:619504
26057	ANKRD17	HP:0001263	Global developmental delay	31/34	OMIM:619504
26057	ANKRD17	HP:0001382	Joint hypermobility	9/29	OMIM:619504
26057	ANKRD17	HP:0008897	Postnatal growth retardation	9/30	OMIM:619504
26057	ANKRD17	HP:0000006	Autosomal dominant inheritance	-	OMIM:619504
26057	ANKRD17	HP:0002650	Scoliosis	3/34	OMIM:619504
26057	ANKRD17	HP:0000175	Cleft palate	1/34	OMIM:619504
26057	ANKRD17	HP:0410030	Cleft lip	1/34	OMIM:619504
26057	ANKRD17	HP:0000122	Unilateral renal agenesis	3/34	OMIM:619504
26057	ANKRD17	HP:0002750	Delayed skeletal maturation	2/34	OMIM:619504
26057	ANKRD17	HP:0002719	Recurrent infections	11/33	OMIM:619504
26057	ANKRD17	HP:0011800	Midface retrusion	5/24	OMIM:619504
26057	ANKRD17	HP:0007018	Attention deficit hyperactivity disorder	4/34	OMIM:619504
26057	ANKRD17	HP:0011968	Feeding difficulties	11/27	OMIM:619504
26057	ANKRD17	HP:0002353	EEG abnormality	10/23	OMIM:619504
26057	ANKRD17	HP:0000629	Periorbital fullness	6/24	OMIM:619504
26057	ANKRD17	HP:0004322	Short stature	12/31	OMIM:619504
26057	ANKRD17	HP:0000750	Delayed speech and language development	29/32	OMIM:619504
26057	ANKRD17	HP:0000729	Autistic behavior	8/34	OMIM:619504
26057	ANKRD17	HP:0000256	Macrocephaly	4/31	OMIM:619504
26057	ANKRD17	HP:0000252	Microcephaly	7/31	OMIM:619504
26057	ANKRD17	HP:0000248	Brachycephaly	3/24	OMIM:619504
26057	ANKRD17	HP:0000219	Thin upper lip vermilion	12/24	OMIM:619504
26057	ANKRD17	HP:0000201	Pierre-Robin sequence	2/34	OMIM:619504
26057	ANKRD17	HP:0007874	Almond-shaped palpebral fissure	8/24	OMIM:619504
26057	ANKRD17	HP:0000319	Smooth philtrum	1/24	OMIM:619504
26057	ANKRD17	HP:0000322	Short philtrum	1/24	OMIM:619504
26057	ANKRD17	HP:0000325	Triangular face	10/24	OMIM:619504
26057	ANKRD17	HP:0000486	Strabismus	6/23	OMIM:619504
26057	ANKRD17	HP:0000490	Deeply set eye	5/24	OMIM:619504
26057	ANKRD17	HP:0000454	Flared nostrils	9/24	OMIM:619504
26057	ANKRD17	HP:0000582	Upslanted palpebral fissure	3/24	OMIM:619504
26058	GIGYF2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	-	OMIM:607688
26058	GIGYF2	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	HP:0040282	ORPHA:411602
26058	GIGYF2	HP:0001332	Dystonia	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:607688
26058	GIGYF2	HP:0001300	Parkinsonism	HP:0040280	ORPHA:411602
26058	GIGYF2	HP:0002015	Dysphagia	HP:0040282	ORPHA:411602
26058	GIGYF2	HP:0002067	Bradykinesia	-	OMIM:607688
26058	GIGYF2	HP:0002067	Bradykinesia	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0003394	Muscle spasm	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0002063	Rigidity	-	OMIM:607688
26058	GIGYF2	HP:0002063	Rigidity	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0002171	Gliosis	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0002172	Postural instability	-	OMIM:607688
26058	GIGYF2	HP:0002172	Postural instability	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0100710	Impulsivity	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0100753	Schizophrenia	HP:0040284	ORPHA:411602
26058	GIGYF2	HP:0002367	Visual hallucination	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0002362	Shuffling gait	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0002359	Frequent falls	HP:0040282	ORPHA:411602
26058	GIGYF2	HP:0002322	Resting tremor	-	OMIM:607688
26058	GIGYF2	HP:0002322	Resting tremor	HP:0040282	ORPHA:411602
26058	GIGYF2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0002304	Akinesia	HP:0040282	ORPHA:411602
26058	GIGYF2	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0000651	Diplopia	HP:0040282	ORPHA:411602
26058	GIGYF2	HP:0000744	Low frustration tolerance	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0000741	Apathy	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0000716	Depression	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0000713	Agitation	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0000726	Dementia	HP:0040284	ORPHA:411602
26058	GIGYF2	HP:0004409	Hyposmia	HP:0040282	ORPHA:411602
26058	GIGYF2	HP:0100315	Lewy bodies	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0031435	Monotonic speech	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0000338	Hypomimic face	HP:0040283	ORPHA:411602
26058	GIGYF2	HP:0005340	Spastic/hyperactive bladder	HP:0040282	ORPHA:411602
26058	GIGYF2	HP:0012450	Chronic constipation	HP:0040282	ORPHA:411602
26058	GIGYF2	HP:0001824	Weight loss	HP:0040283	ORPHA:411602
26060	APPL1	HP:0002594	Pancreatic hypoplasia	HP:0040284	ORPHA:552
26060	APPL1	HP:0000077	Abnormality of the kidney	HP:0040284	ORPHA:552
26060	APPL1	HP:0012028	Hepatocellular adenoma	HP:0040284	ORPHA:552
26060	APPL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616511
26060	APPL1	HP:0000119	Abnormality of the genitourinary system	HP:0040284	ORPHA:552
26060	APPL1	HP:0000112	Nephropathy	HP:0040283	ORPHA:552
26060	APPL1	HP:0000107	Renal cyst	HP:0040284	ORPHA:552
26060	APPL1	HP:0008255	Transient neonatal diabetes mellitus	HP:0040283	ORPHA:552
26060	APPL1	HP:0003596	Middle age onset	6/13	OMIM:616511
26060	APPL1	HP:0004924	Abnormal oral glucose tolerance	HP:0040282	ORPHA:552
26060	APPL1	HP:0004904	Maturity-onset diabetes of the young	13/13	OMIM:616511
26060	APPL1	HP:0001953	Diabetic ketoacidosis	-	ORPHA:552
26060	APPL1	HP:0001952	Glucose intolerance	HP:0040282	ORPHA:552
26060	APPL1	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:552
26060	APPL1	HP:0003076	Glycosuria	HP:0040282	ORPHA:552
26060	APPL1	HP:0003074	Hyperglycemia	HP:0040282	ORPHA:552
26060	APPL1	HP:0011462	Young adult onset	7/13	OMIM:616511
26060	APPL1	HP:0030794	Abnormal circulating C-peptide concentration	HP:0040282	ORPHA:552
26060	APPL1	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040283	ORPHA:552
26060	APPL1	HP:0000819	Diabetes mellitus	-	OMIM:616511
26060	APPL1	HP:0000825	Hyperinsulinemic hypoglycemia	HP:0040283	ORPHA:552
26060	APPL1	HP:0040214	Abnormal circulating insulin concentration	HP:0040282	ORPHA:552
26060	APPL1	HP:0040217	Elevated hemoglobin A1c	HP:0040282	ORPHA:552
26060	APPL1	HP:0040217	Elevated hemoglobin A1c	5/13	OMIM:616511
26060	APPL1	HP:0040216	Hypoinsulinemia	HP:0040282	ORPHA:552
26060	APPL1	HP:0000956	Acanthosis nigricans	-	ORPHA:552
26060	APPL1	HP:0030057	Autoimmune antibody positivity	-	ORPHA:552
26060	APPL1	HP:0025502	Overweight	HP:0040283	ORPHA:552
26060	APPL1	HP:0001520	Large for gestational age	HP:0040283	ORPHA:552
26060	APPL1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:552
26060	APPL1	HP:0001513	Obesity	HP:0040284	ORPHA:552
26060	APPL1	HP:0001738	Exocrine pancreatic insufficiency	HP:0040284	ORPHA:552
26060	APPL1	HP:0000488	Retinopathy	HP:0040283	ORPHA:552
26074	CFAP61	HP:0034811	Bent sperm flagella	9/9	OMIM:620409
26074	CFAP61	HP:0000007	Autosomal recessive inheritance	-	OMIM:620409
26074	CFAP61	HP:0032558	Absent sperm flagella	9/9	OMIM:620409
26074	CFAP61	HP:0032559	Short sperm flagella	9/9	OMIM:620409
26074	CFAP61	HP:0032560	Coiled sperm flagella	9/9	OMIM:620409
26074	CFAP61	HP:0033393	Irregularly shaped sperm tail	9/9	OMIM:620409
26074	CFAP61	HP:0034011	Reduced progressive sperm motility	10/11	OMIM:620409
26074	CFAP61	HP:0011462	Young adult onset	12/12	OMIM:620409
26074	CFAP61	HP:0000798	Oligozoospermia	10/11	OMIM:620409
26074	CFAP61	HP:0003251	Male infertility	12/12	OMIM:620409
26074	CFAP61	HP:0012207	Reduced sperm motility	10/11	OMIM:620409
26090	ABHD12	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
26090	ABHD12	HP:0001272	Cerebellar atrophy	7/17	OMIM:612674
26090	ABHD12	HP:0001251	Ataxia	12/19	OMIM:612674
26090	ABHD12	HP:0001265	Hyporeflexia	-	OMIM:612674
26090	ABHD12	HP:0001260	Dysarthria	-	OMIM:612674
26090	ABHD12	HP:0001257	Spasticity	4/19	OMIM:612674
26090	ABHD12	HP:0001347	Hyperreflexia	-	OMIM:612674
26090	ABHD12	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
26090	ABHD12	HP:0000007	Autosomal recessive inheritance	-	OMIM:612674
26090	ABHD12	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
26090	ABHD12	HP:0001310	Dysmetria	-	OMIM:612674
26090	ABHD12	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
26090	ABHD12	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
26090	ABHD12	HP:0002080	Intention tremor	2/19	OMIM:612674
26090	ABHD12	HP:0003487	Babinski sign	10/19	OMIM:612674
26090	ABHD12	HP:0003693	Distal amyotrophy	-	OMIM:612674
26090	ABHD12	HP:0003677	Slowly progressive	-	OMIM:612674
26090	ABHD12	HP:0007141	Sensorimotor neuropathy	-	OMIM:612674
26090	ABHD12	HP:0007108	Demyelinating peripheral neuropathy	11/12	OMIM:612674
26090	ABHD12	HP:0003621	Juvenile onset	8/19	OMIM:180100
26090	ABHD12	HP:0003621	Juvenile onset	6/18	OMIM:612674
26090	ABHD12	HP:0000639	Nystagmus	-	OMIM:612674
26090	ABHD12	HP:0000648	Optic atrophy	-	OMIM:612674
26090	ABHD12	HP:0000662	Nyctalopia	26/28	OMIM:180100
26090	ABHD12	HP:0000762	Decreased nerve conduction velocity	-	OMIM:612674
26090	ABHD12	HP:0011463	Childhood onset	3/19	OMIM:180100
26090	ABHD12	HP:0011463	Childhood onset	5/18	OMIM:612674
26090	ABHD12	HP:0011462	Young adult onset	8/19	OMIM:180100
26090	ABHD12	HP:0011462	Young adult onset	7/18	OMIM:612674
26090	ABHD12	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
26090	ABHD12	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
26090	ABHD12	HP:0002936	Distal sensory impairment	-	OMIM:612674
26090	ABHD12	HP:0000407	Sensorineural hearing impairment	19/19	OMIM:612674
26090	ABHD12	HP:0001771	Achilles tendon contracture	-	OMIM:612674
26090	ABHD12	HP:0001761	Pes cavus	-	OMIM:612674
26090	ABHD12	HP:0000518	Cataract	15/19	OMIM:612674
26090	ABHD12	HP:0000510	Rod-cone dystrophy	7/19	OMIM:612674
26090	ABHD12	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
26090	ABHD12	HP:0000523	Subcapsular cataract	-	OMIM:612674
26090	ABHD12	HP:0000575	Scotoma	5/18	OMIM:180100
26090	ABHD12	HP:0000543	Optic disc pallor	1/1	OMIM:180100
26090	ABHD12	HP:0000545	Myopia	-	OMIM:180100
26092	TOR1AIP1	HP:0002460	Distal muscle weakness	1/2	OMIM:617072
26092	TOR1AIP1	HP:0032359	Decreased forced expiratory flow 25-75%	2/2	OMIM:617072
26092	TOR1AIP1	HP:0001324	Muscle weakness	2/2	OMIM:617072
26092	TOR1AIP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617072
26092	TOR1AIP1	HP:0003306	Spinal rigidity	1/2	OMIM:617072
26092	TOR1AIP1	HP:0100490	Camptodactyly of finger	1/2	OMIM:617072
26092	TOR1AIP1	HP:0003551	Difficulty climbing stairs	1/2	OMIM:617072
26092	TOR1AIP1	HP:0003560	Muscular dystrophy	-	OMIM:617072
26092	TOR1AIP1	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:617072
26092	TOR1AIP1	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	1/2	OMIM:617072
26092	TOR1AIP1	HP:0003687	Centrally nucleated skeletal muscle fibers	1/1	OMIM:617072
26092	TOR1AIP1	HP:0003677	Slowly progressive	-	OMIM:617072
26092	TOR1AIP1	HP:0003621	Juvenile onset	1/2	OMIM:617072
26092	TOR1AIP1	HP:0007181	Interosseus muscle atrophy	1/2	OMIM:617072
26092	TOR1AIP1	HP:0003236	Elevated circulating creatine kinase concentration	1/2	OMIM:617072
26092	TOR1AIP1	HP:0034392	Joint contracture	1/2	OMIM:617072
26092	TOR1AIP1	HP:0100297	Increased endomysial connective tissue	1/1	OMIM:617072
26092	TOR1AIP1	HP:0006466	Ankle flexion contracture	1/2	OMIM:617072
26092	TOR1AIP1	HP:0006682	Premature ventricular contraction	1/2	OMIM:617072
26092	TOR1AIP1	HP:0025708	Early young adult onset	1/2	OMIM:617072
26100	WIPI2	HP:0002465	Poor speech	-	OMIM:618453
26100	WIPI2	HP:0010864	Intellectual disability, severe	-	OMIM:618453
26100	WIPI2	HP:0001260	Dysarthria	-	OMIM:618453
26100	WIPI2	HP:0001263	Global developmental delay	-	OMIM:618453
26100	WIPI2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618453
26100	WIPI2	HP:0002059	Cerebral atrophy	-	OMIM:618453
26100	WIPI2	HP:0100660	Dyskinesia	-	OMIM:618453
26100	WIPI2	HP:0009778	Short thumb	-	OMIM:618453
26100	WIPI2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:618453
26100	WIPI2	HP:0004322	Short stature	-	OMIM:618453
26100	WIPI2	HP:0000750	Delayed speech and language development	-	OMIM:618453
26100	WIPI2	HP:0011675	Arrhythmia	-	OMIM:618453
26100	WIPI2	HP:0002808	Kyphosis	-	OMIM:618453
26100	WIPI2	HP:0012385	Camptodactyly	-	OMIM:618453
26100	WIPI2	HP:0001845	Overlapping toe	-	OMIM:618453
26115	TANC2	HP:0002497	Spastic ataxia	5/13	OMIM:618906
26115	TANC2	HP:0001290	Generalized hypotonia	5/13	OMIM:618906
26115	TANC2	HP:0001270	Motor delay	13/19	OMIM:618906
26115	TANC2	HP:0001250	Seizure	11/20	OMIM:618906
26115	TANC2	HP:0001249	Intellectual disability	19/20	OMIM:618906
26115	TANC2	HP:0001382	Joint hypermobility	3/9	OMIM:618906
26115	TANC2	HP:0001363	Craniosynostosis	3/14	OMIM:618906
26115	TANC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618906
26115	TANC2	HP:0002650	Scoliosis	-	OMIM:618906
26115	TANC2	HP:0007018	Attention deficit hyperactivity disorder	4/14	OMIM:618906
26115	TANC2	HP:0002360	Sleep abnormality	5/13	OMIM:618906
26115	TANC2	HP:0002376	Developmental regression	2/11	OMIM:618906
26115	TANC2	HP:0000687	Widely spaced teeth	-	OMIM:618906
26115	TANC2	HP:0000739	Anxiety	4/12	OMIM:618906
26115	TANC2	HP:0000733	Motor stereotypy	13/19	OMIM:618906
26115	TANC2	HP:0000750	Delayed speech and language development	18/20	OMIM:618906
26115	TANC2	HP:0000729	Autistic behavior	15/20	OMIM:618906
26115	TANC2	HP:0000252	Microcephaly	3/18	OMIM:618906
26115	TANC2	HP:0012450	Chronic constipation	9/15	OMIM:618906
26119	LDLRAP1	HP:0001138	Optic neuropathy	HP:0040284	ORPHA:391665
26119	LDLRAP1	HP:0010874	Tendon xanthomatosis	HP:0040283	ORPHA:391665
26119	LDLRAP1	HP:0010874	Tendon xanthomatosis	3/3	OMIM:603813
26119	LDLRAP1	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:391665
26119	LDLRAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:603813
26119	LDLRAP1	HP:0002621	Atherosclerosis	-	OMIM:603813
26119	LDLRAP1	HP:0002094	Dyspnea	HP:0040282	ORPHA:391665
26119	LDLRAP1	HP:0002155	Hypertriglyceridemia	3/3	OMIM:603813
26119	LDLRAP1	HP:0003563	Decreased LDL cholesterol concentration	3/3	OMIM:603813
26119	LDLRAP1	HP:0007201	Cerebral artery atherosclerosis	HP:0040282	ORPHA:391665
26119	LDLRAP1	HP:0004963	Calcification of the aorta	HP:0040283	ORPHA:391665
26119	LDLRAP1	HP:0004950	Peripheral arterial stenosis	HP:0040282	ORPHA:391665
26119	LDLRAP1	HP:0001920	Renal artery stenosis	HP:0040282	ORPHA:391665
26119	LDLRAP1	HP:0012638	Abnormal nervous system physiology	HP:0040284	ORPHA:391665
26119	LDLRAP1	HP:0003077	Hyperlipidemia	HP:0040280	ORPHA:391665
26119	LDLRAP1	HP:0004381	Supravalvular aortic stenosis	HP:0040283	ORPHA:391665
26119	LDLRAP1	HP:0000799	Renal steatosis	HP:0040283	ORPHA:391665
26119	LDLRAP1	HP:0003124	Hypercholesterolemia	HP:0040280	ORPHA:391665
26119	LDLRAP1	HP:0003124	Hypercholesterolemia	3/3	OMIM:603813
26119	LDLRAP1	HP:0004416	Precocious atherosclerosis	HP:0040281	ORPHA:391665
26119	LDLRAP1	HP:0003141	Increased LDL cholesterol concentration	HP:0040280	ORPHA:391665
26119	LDLRAP1	HP:0000822	Hypertension	HP:0040282	ORPHA:391665
26119	LDLRAP1	HP:0030882	Coronary artery aneurysm	HP:0040284	ORPHA:391665
26119	LDLRAP1	HP:0100261	Abnormal tendon morphology	HP:0040282	ORPHA:391665
26119	LDLRAP1	HP:0000991	Xanthomatosis	HP:0040283	ORPHA:391665
26119	LDLRAP1	HP:0002829	Arthralgia	HP:0040283	ORPHA:391665
26119	LDLRAP1	HP:0012397	Aortic atherosclerotic lesion	HP:0040282	ORPHA:391665
26119	LDLRAP1	HP:0012373	Abnormal eye physiology	HP:0040284	ORPHA:391665
26119	LDLRAP1	HP:0005177	Premature arteriosclerosis	HP:0040281	ORPHA:391665
26119	LDLRAP1	HP:0005181	Premature coronary artery atherosclerosis	HP:0040282	ORPHA:391665
26119	LDLRAP1	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:391665
26119	LDLRAP1	HP:0001681	Angina pectoris	HP:0040282	ORPHA:391665
26119	LDLRAP1	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:391665
26119	LDLRAP1	HP:0001645	Sudden cardiac death	HP:0040282	ORPHA:391665
26119	LDLRAP1	HP:0030148	Heart murmur	HP:0040282	ORPHA:391665
26119	LDLRAP1	HP:0001658	Myocardial infarction	HP:0040282	ORPHA:391665
26119	LDLRAP1	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:391665
26119	LDLRAP1	HP:0006693	Myocardial steatosis	HP:0040282	ORPHA:391665
26119	LDLRAP1	HP:3000062	Abnormal internal carotid artery morphology	HP:0040282	ORPHA:391665
26121	PRPF31	HP:0001133	Constriction of peripheral visual field	-	OMIM:600138
26121	PRPF31	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
26121	PRPF31	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
26121	PRPF31	HP:0007401	Macular atrophy	HP:0040283	OMIM:600138
26121	PRPF31	HP:0003829	Typified by incomplete penetrance	-	OMIM:600138
26121	PRPF31	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
26121	PRPF31	HP:0000006	Autosomal dominant inheritance	-	OMIM:600138
26121	PRPF31	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
26121	PRPF31	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
26121	PRPF31	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
26121	PRPF31	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
26121	PRPF31	HP:0007663	Reduced visual acuity	-	OMIM:600138
26121	PRPF31	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
26121	PRPF31	HP:0003621	Juvenile onset	8/19	OMIM:180100
26121	PRPF31	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
26121	PRPF31	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
26121	PRPF31	HP:0000618	Blindness	-	OMIM:600138
26121	PRPF31	HP:0000618	Blindness	HP:0040281	ORPHA:791
26121	PRPF31	HP:0000613	Photophobia	HP:0040281	ORPHA:791
26121	PRPF31	HP:0000608	Macular degeneration	HP:0040283	OMIM:600138
26121	PRPF31	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
26121	PRPF31	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
26121	PRPF31	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
26121	PRPF31	HP:0000662	Nyctalopia	5/6	OMIM:600138
26121	PRPF31	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
26121	PRPF31	HP:0000662	Nyctalopia	26/28	OMIM:180100
26121	PRPF31	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
26121	PRPF31	HP:0030629	Perifoveal ring of hyperautofluorescence	4/6	OMIM:600138
26121	PRPF31	HP:0011463	Childhood onset	3/19	OMIM:180100
26121	PRPF31	HP:0011462	Young adult onset	8/19	OMIM:180100
26121	PRPF31	HP:0030786	Photopsia	HP:0040283	ORPHA:791
26121	PRPF31	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
26121	PRPF31	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
26121	PRPF31	HP:0040049	Macular edema	4/6	OMIM:600138
26121	PRPF31	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
26121	PRPF31	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
26121	PRPF31	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
26121	PRPF31	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:600138
26121	PRPF31	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
26121	PRPF31	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
26121	PRPF31	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
26121	PRPF31	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
26121	PRPF31	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
26121	PRPF31	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
26121	PRPF31	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
26121	PRPF31	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
26121	PRPF31	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
26121	PRPF31	HP:0000510	Rod-cone dystrophy	-	OMIM:600138
26121	PRPF31	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
26121	PRPF31	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
26121	PRPF31	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
26121	PRPF31	HP:0000575	Scotoma	5/18	OMIM:180100
26121	PRPF31	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
26121	PRPF31	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
26121	PRPF31	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
26121	PRPF31	HP:0000543	Optic disc pallor	2/6	OMIM:600138
26121	PRPF31	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
26121	PRPF31	HP:0000543	Optic disc pallor	1/1	OMIM:180100
26121	PRPF31	HP:0000545	Myopia	-	OMIM:180100
26123	TCTN3	HP:0001177	Preaxial hand polydactyly	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:564
26123	TCTN3	HP:0001171	Split hand	HP:0040282	ORPHA:2753
26123	TCTN3	HP:0001156	Brachydactyly	-	OMIM:258860
26123	TCTN3	HP:0001156	Brachydactyly	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:564
26123	TCTN3	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
26123	TCTN3	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2754
26123	TCTN3	HP:0001161	Hand polydactyly	-	OMIM:258860
26123	TCTN3	HP:0001159	Syndactyly	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0002444	Hypothalamic hamartoma	HP:0040283	ORPHA:2754
26123	TCTN3	HP:0002419	Molar tooth sign on MRI	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0002419	Molar tooth sign on MRI	4/8	OMIM:614815
26123	TCTN3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
26123	TCTN3	HP:0001293	Cranial nerve compression	-	OMIM:131300
26123	TCTN3	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0001274	Agenesis of corpus callosum	1/8	OMIM:614815
26123	TCTN3	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
26123	TCTN3	HP:0001288	Gait disturbance	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0001250	Seizure	HP:0040283	ORPHA:2754
26123	TCTN3	HP:0001250	Seizure	HP:0040283	ORPHA:475
26123	TCTN3	HP:0001252	Hypotonia	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
26123	TCTN3	HP:0001252	Hypotonia	2/7	OMIM:615777
26123	TCTN3	HP:0001251	Ataxia	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0001251	Ataxia	HP:0040281	ORPHA:475
26123	TCTN3	HP:0001249	Intellectual disability	-	OMIM:614815
26123	TCTN3	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
26123	TCTN3	HP:0001249	Intellectual disability	5/7	OMIM:615777
26123	TCTN3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
26123	TCTN3	HP:0001263	Global developmental delay	-	OMIM:615777
26123	TCTN3	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
26123	TCTN3	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2754
26123	TCTN3	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:564
26123	TCTN3	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2753
26123	TCTN3	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2754
26123	TCTN3	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
26123	TCTN3	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:2754
26123	TCTN3	HP:0002515	Waddling gait	54/102	OMIM:131300
26123	TCTN3	HP:0000085	Horseshoe kidney	1/8	OMIM:614815
26123	TCTN3	HP:0000068	Urethral atresia	HP:0040283	ORPHA:564
26123	TCTN3	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:564
26123	TCTN3	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:564
26123	TCTN3	HP:0001373	Joint dislocation	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:564
26123	TCTN3	HP:0001367	Abnormal joint morphology	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0001382	Joint hypermobility	-	OMIM:614815
26123	TCTN3	HP:0001382	Joint hypermobility	-	OMIM:615777
26123	TCTN3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
26123	TCTN3	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:564
26123	TCTN3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
26123	TCTN3	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
26123	TCTN3	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0006145	Central Y-shaped metacarpal	HP:0040283	ORPHA:2754
26123	TCTN3	HP:0001328	Specific learning disability	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
26123	TCTN3	HP:0001324	Muscle weakness	40/96	OMIM:131300
26123	TCTN3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
26123	TCTN3	HP:0000007	Autosomal recessive inheritance	-	OMIM:614815
26123	TCTN3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
26123	TCTN3	HP:0000007	Autosomal recessive inheritance	-	OMIM:258860
26123	TCTN3	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:564
26123	TCTN3	HP:0001337	Tremor	HP:0040283	ORPHA:475
26123	TCTN3	HP:0001337	Tremor	HP:0040283	ORPHA:2754
26123	TCTN3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
26123	TCTN3	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:564
26123	TCTN3	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
26123	TCTN3	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:2754
26123	TCTN3	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
26123	TCTN3	HP:0002650	Scoliosis	12/14	OMIM:131300
26123	TCTN3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
26123	TCTN3	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:564
26123	TCTN3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
26123	TCTN3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
26123	TCTN3	HP:0000180	Lobulated tongue	1/8	OMIM:614815
26123	TCTN3	HP:0000180	Lobulated tongue	-	OMIM:258860
26123	TCTN3	HP:0000180	Lobulated tongue	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0000199	Tongue nodules	-	OMIM:258860
26123	TCTN3	HP:0000199	Tongue nodules	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
26123	TCTN3	HP:0000193	Bifid uvula	HP:0040282	ORPHA:2753
26123	TCTN3	HP:0000190	Abnormal oral frenulum morphology	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0000191	Accessory oral frenulum	-	OMIM:258860
26123	TCTN3	HP:0000161	Median cleft upper lip	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0012157	Subcortical cerebral atrophy	HP:0040282	ORPHA:2753
26123	TCTN3	HP:0000157	Abnormality of the tongue	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000176	Submucous cleft hard palate	HP:0040282	ORPHA:2753
26123	TCTN3	HP:0000175	Cleft palate	HP:0040282	ORPHA:564
26123	TCTN3	HP:0000175	Cleft palate	1/8	OMIM:614815
26123	TCTN3	HP:0000175	Cleft palate	-	OMIM:258860
26123	TCTN3	HP:0000175	Cleft palate	2/7	OMIM:615777
26123	TCTN3	HP:0000175	Cleft palate	HP:0040282	ORPHA:2753
26123	TCTN3	HP:0000175	Cleft palate	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0000168	Abnormality of the gingiva	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000143	Rectovaginal fistula	HP:0040283	ORPHA:2753
26123	TCTN3	HP:0002705	High, narrow palate	HP:0040282	ORPHA:2753
26123	TCTN3	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
26123	TCTN3	HP:0000107	Renal cyst	6/8	OMIM:614815
26123	TCTN3	HP:0000104	Renal agenesis	HP:0040283	ORPHA:2753
26123	TCTN3	HP:0000104	Renal agenesis	HP:0040283	ORPHA:2754
26123	TCTN3	HP:0002751	Kyphoscoliosis	1/8	OMIM:614815
26123	TCTN3	HP:0002023	Anal atresia	HP:0040283	ORPHA:2753
26123	TCTN3	HP:0002007	Frontal bossing	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
26123	TCTN3	HP:0005944	Bilateral lung agenesis	HP:0040283	ORPHA:2753
26123	TCTN3	HP:0011802	Hamartoma of tongue	-	OMIM:258860
26123	TCTN3	HP:0011802	Hamartoma of tongue	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:2753
26123	TCTN3	HP:0002085	Occipital encephalocele	6/8	OMIM:614815
26123	TCTN3	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
26123	TCTN3	HP:0002084	Encephalocele	HP:0040281	ORPHA:564
26123	TCTN3	HP:0002059	Cerebral atrophy	-	OMIM:258860
26123	TCTN3	HP:0003388	Easy fatigability	36/76	OMIM:131300
26123	TCTN3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
26123	TCTN3	HP:0010469	Absent testis	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0010459	True hermaphroditism	HP:0040283	ORPHA:564
26123	TCTN3	HP:0002139	Arrhinencephaly	1/8	OMIM:614815
26123	TCTN3	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:2753
26123	TCTN3	HP:0002132	Porencephalic cyst	-	OMIM:258860
26123	TCTN3	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
26123	TCTN3	HP:0002104	Apnea	HP:0040281	ORPHA:475
26123	TCTN3	HP:0002104	Apnea	HP:0040283	ORPHA:2754
26123	TCTN3	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:2753
26123	TCTN3	HP:0010566	Hamartoma	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:2753
26123	TCTN3	HP:0011830	Abnormal oral mucosa morphology	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
26123	TCTN3	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:2754
26123	TCTN3	HP:0003577	Congenital onset	2/8	OMIM:614815
26123	TCTN3	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
26123	TCTN3	HP:0004871	Perineal fistula	HP:0040283	ORPHA:2753
26123	TCTN3	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0100732	Pancreatic fibrosis	HP:0040283	ORPHA:564
26123	TCTN3	HP:0007036	Hypoplasia of olfactory tract	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2753
26123	TCTN3	HP:0003510	Severe short stature	7/7	OMIM:615777
26123	TCTN3	HP:0003510	Severe short stature	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0025023	Rectal atresia	HP:0040283	ORPHA:2753
26123	TCTN3	HP:0002335	Agenesis of cerebellar vermis	2/8	OMIM:614815
26123	TCTN3	HP:0002323	Anencephaly	HP:0040283	ORPHA:564
26123	TCTN3	HP:0002315	Headache	-	OMIM:131300
26123	TCTN3	HP:0004976	Knee dislocation	6/7	OMIM:615777
26123	TCTN3	HP:0009803	Short phalanx of finger	-	OMIM:615777
26123	TCTN3	HP:0009763	Limb pain	63/92	OMIM:131300
26123	TCTN3	HP:0003621	Juvenile onset	-	OMIM:131300
26123	TCTN3	HP:0006870	Lobar holoprosencephaly	HP:0040282	ORPHA:564
26123	TCTN3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
26123	TCTN3	HP:0009084	Midline notch of upper alveolar ridge	HP:0040283	ORPHA:2754
26123	TCTN3	HP:0034044	Trident pelvis	3/5	OMIM:614815
26123	TCTN3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
26123	TCTN3	HP:0000639	Nystagmus	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
26123	TCTN3	HP:6001056	Out-toeing	-	OMIM:131300
26123	TCTN3	HP:0000651	Diplopia	-	OMIM:131300
26123	TCTN3	HP:0000648	Optic atrophy	HP:0040282	ORPHA:564
26123	TCTN3	HP:0000647	Sclerocornea	HP:0040282	ORPHA:564
26123	TCTN3	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
26123	TCTN3	HP:0001956	Truncal obesity	2/7	OMIM:615777
26123	TCTN3	HP:0001903	Anemia	HP:0040283	OMIM:131300
26123	TCTN3	HP:0010049	Short metacarpal	-	OMIM:615777
26123	TCTN3	HP:0000678	Dental crowding	-	OMIM:615777
26123	TCTN3	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
26123	TCTN3	HP:0000670	Carious teeth	-	OMIM:131300
26123	TCTN3	HP:0011304	Broad thumb	2/7	OMIM:615777
26123	TCTN3	HP:0000668	Hypodontia	-	OMIM:615777
26123	TCTN3	HP:0000664	Synophrys	-	OMIM:615777
26123	TCTN3	HP:0004322	Short stature	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0004322	Short stature	-	OMIM:258860
26123	TCTN3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
26123	TCTN3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:564
26123	TCTN3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2753
26123	TCTN3	HP:0004396	Poor appetite	-	OMIM:131300
26123	TCTN3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
26123	TCTN3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
26123	TCTN3	HP:0034198	Second trimester onset	6/8	OMIM:614815
26123	TCTN3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
26123	TCTN3	HP:0003026	Short long bone	7/7	OMIM:615777
26123	TCTN3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
26123	TCTN3	HP:0000767	Pectus excavatum	-	OMIM:258860
26123	TCTN3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
26123	TCTN3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
26123	TCTN3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
26123	TCTN3	HP:0000750	Delayed speech and language development	-	OMIM:615777
26123	TCTN3	HP:0011461	Fetal onset	7/7	OMIM:615777
26123	TCTN3	HP:0000774	Narrow chest	2/7	OMIM:615777
26123	TCTN3	HP:0009118	Aplasia/Hypoplasia of the mandible	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0005772	Aplasia/Hypoplasia of the tibia	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
26123	TCTN3	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0005736	Short tibia	-	OMIM:258860
26123	TCTN3	HP:0003196	Short nose	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000926	Platyspondyly	1/7	OMIM:615777
26123	TCTN3	HP:0100308	Cerebral cortical hemiatrophy	HP:0040282	ORPHA:2753
26123	TCTN3	HP:0003180	Flat acetabular roof	-	OMIM:615777
26123	TCTN3	HP:0004482	Relative macrocephaly	-	OMIM:615777
26123	TCTN3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
26123	TCTN3	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
26123	TCTN3	HP:0000823	Delayed puberty	-	OMIM:131300
26123	TCTN3	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:564
26123	TCTN3	HP:0040019	Finger clinodactyly	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0010285	Oral synechia	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000894	Short clavicles	-	OMIM:615777
26123	TCTN3	HP:0030868	Monorchism	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
26123	TCTN3	HP:0100260	Mesoaxial polydactyly	HP:0040283	ORPHA:2754
26123	TCTN3	HP:0100259	Postaxial polydactyly	7/8	OMIM:614815
26123	TCTN3	HP:0100259	Postaxial polydactyly	-	OMIM:258860
26123	TCTN3	HP:0100258	Preaxial polydactyly	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
26123	TCTN3	HP:0009381	Short finger	-	OMIM:258860
26123	TCTN3	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040282	ORPHA:564
26123	TCTN3	HP:0000286	Epicanthus	-	OMIM:258860
26123	TCTN3	HP:0000286	Epicanthus	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0000286	Epicanthus	1/7	OMIM:615777
26123	TCTN3	HP:0000280	Coarse facial features	2/7	OMIM:615777
26123	TCTN3	HP:0000278	Retrognathia	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000278	Retrognathia	2/8	OMIM:614815
26123	TCTN3	HP:0000293	Full cheeks	HP:0040282	ORPHA:564
26123	TCTN3	HP:0000276	Long face	HP:0040282	ORPHA:475
26123	TCTN3	HP:0000276	Long face	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0002827	Hip dislocation	3/7	OMIM:615777
26123	TCTN3	HP:0030084	Clinodactyly	-	OMIM:258860
26123	TCTN3	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
26123	TCTN3	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:564
26123	TCTN3	HP:0000252	Microcephaly	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000252	Microcephaly	HP:0040281	ORPHA:564
26123	TCTN3	HP:0000252	Microcephaly	-	OMIM:615777
26123	TCTN3	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:564
26123	TCTN3	HP:0000218	High palate	-	OMIM:258860
26123	TCTN3	HP:0000218	High palate	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
26123	TCTN3	HP:0002876	Episodic tachypnea	HP:0040283	ORPHA:2754
26123	TCTN3	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:564
26123	TCTN3	HP:0001562	Oligohydramnios	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0002857	Genu valgum	-	OMIM:131300
26123	TCTN3	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
26123	TCTN3	HP:0000202	Orofacial cleft	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0001533	Slender build	-	OMIM:131300
26123	TCTN3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2753
26123	TCTN3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0001511	Intrauterine growth retardation	3/8	OMIM:614815
26123	TCTN3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
26123	TCTN3	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0001510	Growth delay	HP:0040282	ORPHA:2753
26123	TCTN3	HP:0001510	Growth delay	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0007807	Optic nerve compression	-	OMIM:131300
26123	TCTN3	HP:0012385	Camptodactyly	1/8	OMIM:614815
26123	TCTN3	HP:0012368	Flat face	7/7	OMIM:615777
26123	TCTN3	HP:0005248	Intrahepatic biliary atresia	6/8	OMIM:614815
26123	TCTN3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
26123	TCTN3	HP:0001601	Laryngomalacia	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:564
26123	TCTN3	HP:0006487	Bowing of the long bones	2/8	OMIM:614815
26123	TCTN3	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
26123	TCTN3	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:564
26123	TCTN3	HP:0000365	Hearing impairment	10/67	OMIM:131300
26123	TCTN3	HP:0000356	Abnormality of the outer ear	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:564
26123	TCTN3	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0000369	Low-set ears	-	OMIM:258860
26123	TCTN3	HP:0000369	Low-set ears	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
26123	TCTN3	HP:0000340	Sloping forehead	HP:0040282	ORPHA:564
26123	TCTN3	HP:0000343	Long philtrum	1/7	OMIM:615777
26123	TCTN3	HP:0011001	Increased bone mineral density	-	OMIM:131300
26123	TCTN3	HP:0000347	Micrognathia	HP:0040282	ORPHA:564
26123	TCTN3	HP:0000347	Micrognathia	-	OMIM:258860
26123	TCTN3	HP:0000347	Micrognathia	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000347	Micrognathia	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0002983	Micromelia	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000316	Hypertelorism	HP:0040282	ORPHA:564
26123	TCTN3	HP:0000316	Hypertelorism	-	OMIM:258860
26123	TCTN3	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0000311	Round face	2/7	OMIM:615777
26123	TCTN3	HP:0000322	Short philtrum	HP:0040283	ORPHA:2753
26123	TCTN3	HP:0001629	Ventricular septal defect	1/8	OMIM:614815
26123	TCTN3	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2754
26123	TCTN3	HP:0002970	Genu varum	-	OMIM:615777
26123	TCTN3	HP:0002970	Genu varum	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000303	Mandibular prognathia	-	OMIM:131300
26123	TCTN3	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:564
26123	TCTN3	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
26123	TCTN3	HP:0000486	Strabismus	HP:0040283	ORPHA:475
26123	TCTN3	HP:0000482	Microcornea	HP:0040282	ORPHA:564
26123	TCTN3	HP:0000496	Abnormality of eye movement	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000496	Abnormality of eye movement	1/8	OMIM:614815
26123	TCTN3	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
26123	TCTN3	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:564
26123	TCTN3	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000470	Short neck	1/7	OMIM:615777
26123	TCTN3	HP:0001770	Toe syndactyly	-	OMIM:258860
26123	TCTN3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
26123	TCTN3	HP:0001763	Pes planus	1/7	OMIM:615777
26123	TCTN3	HP:0000453	Choanal atresia	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000445	Wide nose	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0001746	Asplenia	HP:0040283	ORPHA:564
26123	TCTN3	HP:0001747	Accessory spleen	HP:0040283	ORPHA:564
26123	TCTN3	HP:0001762	Talipes equinovarus	1/8	OMIM:614815
26123	TCTN3	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
26123	TCTN3	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:2754
26123	TCTN3	HP:0006706	Cystic liver disease	HP:0040283	ORPHA:564
26123	TCTN3	HP:0011267	Microtia, third degree	HP:0040281	ORPHA:2753
26123	TCTN3	HP:0000518	Cataract	HP:0040282	ORPHA:564
26123	TCTN3	HP:0001840	Metatarsus adductus	-	OMIM:615777
26123	TCTN3	HP:0000528	Anophthalmia	HP:0040283	ORPHA:564
26123	TCTN3	HP:0000520	Proptosis	2/4	OMIM:131300
26123	TCTN3	HP:0000520	Proptosis	7/7	OMIM:615777
26123	TCTN3	HP:0000520	Proptosis	HP:0040282	ORPHA:2753
26123	TCTN3	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
26123	TCTN3	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:2754
26123	TCTN3	HP:0001829	Foot polydactyly	-	OMIM:258860
26123	TCTN3	HP:0000508	Ptosis	HP:0040283	ORPHA:475
26123	TCTN3	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:564
26123	TCTN3	HP:0001800	Hypoplastic toenails	HP:0040283	ORPHA:2753
26123	TCTN3	HP:0000598	Abnormality of the ear	HP:0040283	ORPHA:2753
26123	TCTN3	HP:0011255	Absent crus of helix	HP:0040283	ORPHA:2753
26123	TCTN3	HP:0000592	Blue sclerae	2/7	OMIM:615777
26123	TCTN3	HP:0000568	Microphthalmia	HP:0040282	ORPHA:564
26123	TCTN3	HP:0000565	Esotropia	HP:0040282	ORPHA:2754
26123	TCTN3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
26123	TCTN3	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:564
26123	TCTN3	HP:0001883	Talipes	HP:0040282	ORPHA:564
26123	TCTN3	HP:0012514	Lower limb pain	4/4	OMIM:131300
26128	KIFBP	HP:0001182	Tapered finger	-	OMIM:609460
26128	KIFBP	HP:0001250	Seizure	HP:0040283	ORPHA:66629
26128	KIFBP	HP:0001252	Hypotonia	5/5	OMIM:609460
26128	KIFBP	HP:0001252	Hypotonia	HP:0040282	ORPHA:66629
26128	KIFBP	HP:0001249	Intellectual disability	5/5	OMIM:609460
26128	KIFBP	HP:0001249	Intellectual disability	HP:0040281	ORPHA:66629
26128	KIFBP	HP:0001263	Global developmental delay	5/5	OMIM:609460
26128	KIFBP	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:66629
26128	KIFBP	HP:0002553	Highly arched eyebrow	-	OMIM:609460
26128	KIFBP	HP:0002509	Limb hypertonia	2/5	OMIM:609460
26128	KIFBP	HP:0000076	Vesicoureteral reflux	1/4	OMIM:609460
26128	KIFBP	HP:0000048	Bifid scrotum	HP:0040283	ORPHA:66629
26128	KIFBP	HP:0000047	Hypospadias	HP:0040283	ORPHA:66629
26128	KIFBP	HP:0001328	Specific learning disability	HP:0040281	ORPHA:66629
26128	KIFBP	HP:0000007	Autosomal recessive inheritance	-	OMIM:609460
26128	KIFBP	HP:0001302	Pachygyria	-	OMIM:609460
26128	KIFBP	HP:0001302	Pachygyria	HP:0040283	ORPHA:66629
26128	KIFBP	HP:0000175	Cleft palate	HP:0040281	ORPHA:66629
26128	KIFBP	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:66629
26128	KIFBP	HP:0002079	Hypoplasia of the corpus callosum	2/5	OMIM:609460
26128	KIFBP	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:66629
26128	KIFBP	HP:0002126	Polymicrogyria	6/10	OMIM:609460
26128	KIFBP	HP:0003577	Congenital onset	-	OMIM:609460
26128	KIFBP	HP:0002251	Aganglionic megacolon	14/15	OMIM:609460
26128	KIFBP	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:66629
26128	KIFBP	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:66629
26128	KIFBP	HP:0002365	Hypoplasia of the brainstem	-	OMIM:609460
26128	KIFBP	HP:0200020	Corneal erosion	-	OMIM:609460
26128	KIFBP	HP:0200055	Small hand	-	OMIM:609460
26128	KIFBP	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:609460
26128	KIFBP	HP:0000612	Iris coloboma	HP:0040282	ORPHA:66629
26128	KIFBP	HP:0000677	Oligodontia	1/5	OMIM:609460
26128	KIFBP	HP:0000664	Synophrys	-	OMIM:609460
26128	KIFBP	HP:0004322	Short stature	HP:0040281	ORPHA:66629
26128	KIFBP	HP:0012704	Widened subarachnoid space	1/5	OMIM:609460
26128	KIFBP	HP:0012804	Corneal ulceration	-	OMIM:609460
26128	KIFBP	HP:0045075	Sparse eyebrow	HP:0040283	ORPHA:66629
26128	KIFBP	HP:0008070	Sparse hair	-	OMIM:609460
26128	KIFBP	HP:0000252	Microcephaly	-	OMIM:609460
26128	KIFBP	HP:0000252	Microcephaly	HP:0040281	ORPHA:66629
26128	KIFBP	HP:0000232	Everted lower lip vermilion	-	OMIM:609460
26128	KIFBP	HP:0000369	Low-set ears	-	OMIM:609460
26128	KIFBP	HP:0000340	Sloping forehead	HP:0040283	ORPHA:66629
26128	KIFBP	HP:0000316	Hypertelorism	HP:0040283	ORPHA:66629
26128	KIFBP	HP:0000327	Hypoplasia of the maxilla	-	OMIM:609460
26128	KIFBP	HP:0001659	Aortic regurgitation	1/5	OMIM:609460
26128	KIFBP	HP:0000322	Short philtrum	-	OMIM:609460
26128	KIFBP	HP:0001629	Ventricular septal defect	1/5	OMIM:609460
26128	KIFBP	HP:0000307	Pointed chin	HP:0040283	ORPHA:66629
26128	KIFBP	HP:0006610	Wide intermamillary distance	-	OMIM:609460
26128	KIFBP	HP:0000400	Macrotia	HP:0040283	ORPHA:66629
26128	KIFBP	HP:0000485	Megalocornea	1/5	OMIM:609460
26128	KIFBP	HP:0012471	Thick vermilion border	-	OMIM:609460
26128	KIFBP	HP:0000494	Downslanted palpebral fissures	-	OMIM:609460
26128	KIFBP	HP:0000470	Short neck	-	OMIM:609460
26128	KIFBP	HP:0012427	Increased femoral anteversion	1/5	OMIM:609460
26128	KIFBP	HP:0000414	Bulbous nose	-	OMIM:609460
26128	KIFBP	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:66629
26128	KIFBP	HP:0000431	Wide nasal bridge	-	OMIM:609460
26128	KIFBP	HP:0000426	Prominent nasal bridge	-	OMIM:609460
26128	KIFBP	HP:0000506	Telecanthus	-	OMIM:609460
26128	KIFBP	HP:0000508	Ptosis	2/5	OMIM:609460
26128	KIFBP	HP:0000508	Ptosis	HP:0040282	ORPHA:66629
26128	KIFBP	HP:0000592	Blue sclerae	-	OMIM:609460
26128	KIFBP	HP:0000574	Thick eyebrow	-	OMIM:609460
26128	KIFBP	HP:0000540	Hypermetropia	2/5	OMIM:609460
26130	GAPVD1	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
26130	GAPVD1	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
26130	GAPVD1	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
26130	GAPVD1	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
26130	GAPVD1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
26130	GAPVD1	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
26130	GAPVD1	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
26130	GAPVD1	HP:0002315	Headache	HP:0040283	ORPHA:656
26130	GAPVD1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
26130	GAPVD1	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
26130	GAPVD1	HP:0001945	Fever	HP:0040283	ORPHA:656
26130	GAPVD1	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
26130	GAPVD1	HP:0000737	Irritability	HP:0040283	ORPHA:656
26130	GAPVD1	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
26130	GAPVD1	HP:0000969	Edema	HP:0040281	ORPHA:656
26130	GAPVD1	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
26130	GAPVD1	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
26137	ZBTB20	HP:0001115	Posterior polar cataract	-	OMIM:259050
26137	ZBTB20	HP:0009882	Short distal phalanx of finger	-	OMIM:259050
26137	ZBTB20	HP:0008541	Superiorly displaced ears	-	OMIM:259050
26137	ZBTB20	HP:0003745	Sporadic	-	OMIM:259050
26137	ZBTB20	HP:0001288	Gait disturbance	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0001250	Seizure	0/6	OMIM:259050
26137	ZBTB20	HP:0001250	Seizure	HP:0040282	ORPHA:3042
26137	ZBTB20	HP:0001252	Hypotonia	11/14	OMIM:259050
26137	ZBTB20	HP:0001251	Ataxia	2/6	OMIM:259050
26137	ZBTB20	HP:0001249	Intellectual disability	5/8	OMIM:259050
26137	ZBTB20	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0001263	Global developmental delay	6/6	OMIM:259050
26137	ZBTB20	HP:0008689	Bilateral cryptorchidism	HP:0040283	OMIM:259050
26137	ZBTB20	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:3042
26137	ZBTB20	HP:0002550	Absent facial hair	-	OMIM:259050
26137	ZBTB20	HP:0002514	Cerebral calcification	4/14	OMIM:259050
26137	ZBTB20	HP:0012062	Bone cyst	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0001371	Flexion contracture	5/7	OMIM:259050
26137	ZBTB20	HP:0001371	Flexion contracture	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0001385	Hip dysplasia	4/8	OMIM:259050
26137	ZBTB20	HP:0001382	Joint hypermobility	3/6	OMIM:259050
26137	ZBTB20	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:3042
26137	ZBTB20	HP:0000028	Cryptorchidism	3/4	OMIM:259050
26137	ZBTB20	HP:0000006	Autosomal dominant inheritance	-	OMIM:259050
26137	ZBTB20	HP:0002650	Scoliosis	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0000179	Thick lower lip vermilion	6/8	OMIM:259050
26137	ZBTB20	HP:0000160	Narrow mouth	3/6	OMIM:259050
26137	ZBTB20	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0000135	Hypogonadism	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0002797	Osteolysis	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0006254	Elevated circulating alpha-fetoprotein concentration	5/5	OMIM:259050
26137	ZBTB20	HP:0002714	Downturned corners of mouth	2/6	OMIM:259050
26137	ZBTB20	HP:0040309	Increased size of the mandible	6/8	OMIM:259050
26137	ZBTB20	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0003301	Irregular vertebral endplates	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0003301	Irregular vertebral endplates	-	OMIM:259050
26137	ZBTB20	HP:0011800	Midface retrusion	-	OMIM:259050
26137	ZBTB20	HP:0011800	Midface retrusion	HP:0040282	ORPHA:3042
26137	ZBTB20	HP:0002079	Hypoplasia of the corpus callosum	5/8	OMIM:259050
26137	ZBTB20	HP:0002119	Ventriculomegaly	3/6	OMIM:259050
26137	ZBTB20	HP:0002180	Neurodegeneration	-	OMIM:259050
26137	ZBTB20	HP:0003577	Congenital onset	1/6	OMIM:259050
26137	ZBTB20	HP:0100716	Self-injurious behavior	4/8	OMIM:259050
26137	ZBTB20	HP:0002221	Absent axillary hair	-	OMIM:259050
26137	ZBTB20	HP:0002231	Sparse body hair	7/8	OMIM:259050
26137	ZBTB20	HP:0002209	Sparse scalp hair	-	OMIM:259050
26137	ZBTB20	HP:0100789	Torus palatinus	2/8	OMIM:259050
26137	ZBTB20	HP:0100753	Schizophrenia	1/6	OMIM:259050
26137	ZBTB20	HP:0007018	Attention deficit hyperactivity disorder	0/6	OMIM:259050
26137	ZBTB20	HP:0008391	Dystrophic fingernails	-	OMIM:259050
26137	ZBTB20	HP:0003693	Distal amyotrophy	7/8	OMIM:259050
26137	ZBTB20	HP:0002360	Sleep abnormality	0/6	OMIM:259050
26137	ZBTB20	HP:0002376	Developmental regression	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0003623	Neonatal onset	5/6	OMIM:259050
26137	ZBTB20	HP:0001956	Truncal obesity	5/8	OMIM:259050
26137	ZBTB20	HP:0001952	Glucose intolerance	-	OMIM:259050
26137	ZBTB20	HP:0001903	Anemia	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0000664	Synophrys	-	OMIM:259050
26137	ZBTB20	HP:0000664	Synophrys	HP:0040282	ORPHA:3042
26137	ZBTB20	HP:0004322	Short stature	-	OMIM:259050
26137	ZBTB20	HP:0004322	Short stature	HP:0040282	ORPHA:3042
26137	ZBTB20	HP:0004349	Reduced bone mineral density	5/8	OMIM:259050
26137	ZBTB20	HP:0000771	Gynecomastia	-	OMIM:259050
26137	ZBTB20	HP:0000771	Gynecomastia	HP:0040282	ORPHA:3042
26137	ZBTB20	HP:0000767	Pectus excavatum	-	OMIM:259050
26137	ZBTB20	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:3042
26137	ZBTB20	HP:0100033	Tics	1/8	OMIM:259050
26137	ZBTB20	HP:0000739	Anxiety	3/14	OMIM:259050
26137	ZBTB20	HP:0000733	Motor stereotypy	5/14	OMIM:259050
26137	ZBTB20	HP:0000750	Delayed speech and language development	6/6	OMIM:259050
26137	ZBTB20	HP:0000718	Aggressive behavior	1/8	OMIM:259050
26137	ZBTB20	HP:0000717	Autism	4/14	OMIM:259050
26137	ZBTB20	HP:0000711	Restlessness	HP:0040283	OMIM:259050
26137	ZBTB20	HP:0000774	Narrow chest	-	OMIM:259050
26137	ZBTB20	HP:0000774	Narrow chest	HP:0040282	ORPHA:3042
26137	ZBTB20	HP:0005758	Basilar impression	-	OMIM:259050
26137	ZBTB20	HP:0003198	Myopathy	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0000819	Diabetes mellitus	4/8	OMIM:259050
26137	ZBTB20	HP:0000815	Hypergonadotropic hypogonadism	HP:0040283	OMIM:259050
26137	ZBTB20	HP:0000821	Hypothyroidism	2/6	OMIM:259050
26137	ZBTB20	HP:0000823	Delayed puberty	1/2	OMIM:259050
26137	ZBTB20	HP:0003202	Skeletal muscle atrophy	1/6	OMIM:259050
26137	ZBTB20	HP:0003273	Hip contracture	-	OMIM:259050
26137	ZBTB20	HP:0003273	Hip contracture	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0000939	Osteoporosis	-	OMIM:259050
26137	ZBTB20	HP:0040160	Generalized osteoporosis	-	OMIM:259050
26137	ZBTB20	HP:0000286	Epicanthus	5/6	OMIM:259050
26137	ZBTB20	HP:0000256	Macrocephaly	3/5	OMIM:259050
26137	ZBTB20	HP:0000272	Malar flattening	-	OMIM:259050
26137	ZBTB20	HP:0005121	Posterior scalloping of vertebral bodies	-	OMIM:259050
26137	ZBTB20	HP:0005121	Posterior scalloping of vertebral bodies	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0005103	Calcification of the auricular cartilage	8/14	OMIM:259050
26137	ZBTB20	HP:0005103	Calcification of the auricular cartilage	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0002808	Kyphosis	-	OMIM:259050
26137	ZBTB20	HP:0002808	Kyphosis	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0006380	Knee flexion contracture	-	OMIM:259050
26137	ZBTB20	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0000248	Brachycephaly	6/8	OMIM:259050
26137	ZBTB20	HP:0000218	High palate	1/6	OMIM:259050
26137	ZBTB20	HP:0002857	Genu valgum	-	OMIM:259050
26137	ZBTB20	HP:0002868	Narrow iliac wing	-	OMIM:259050
26137	ZBTB20	HP:0002868	Narrow iliac wing	HP:0040282	ORPHA:3042
26137	ZBTB20	HP:0000365	Hearing impairment	12/14	OMIM:259050
26137	ZBTB20	HP:0000337	Broad forehead	7/8	OMIM:259050
26137	ZBTB20	HP:0000316	Hypertelorism	0/6	OMIM:259050
26137	ZBTB20	HP:0000327	Hypoplasia of the maxilla	-	OMIM:259050
26137	ZBTB20	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0000400	Macrotia	12/14	OMIM:259050
26137	ZBTB20	HP:0000400	Macrotia	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0005280	Depressed nasal bridge	0/6	OMIM:259050
26137	ZBTB20	HP:0000486	Strabismus	3/6	OMIM:259050
26137	ZBTB20	HP:0000494	Downslanted palpebral fissures	11/14	OMIM:259050
26137	ZBTB20	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:3042
26137	ZBTB20	HP:0000490	Deeply set eye	7/8	OMIM:259050
26137	ZBTB20	HP:0000463	Anteverted nares	2/6	OMIM:259050
26137	ZBTB20	HP:0000455	Broad nasal tip	2/8	OMIM:259050
26137	ZBTB20	HP:0001798	Anonychia	HP:0040282	ORPHA:3042
26137	ZBTB20	HP:0000431	Wide nasal bridge	0/6	OMIM:259050
26137	ZBTB20	HP:0001761	Pes cavus	-	OMIM:259050
26137	ZBTB20	HP:0000518	Cataract	HP:0040281	ORPHA:3042
26137	ZBTB20	HP:0001840	Metatarsus adductus	-	OMIM:259050
26137	ZBTB20	HP:0000508	Ptosis	10/14	OMIM:259050
26137	ZBTB20	HP:0011220	Prominent forehead	3/6	OMIM:259050
26146	TRAF3IP1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
26146	TRAF3IP1	HP:0003774	Stage 5 chronic kidney disease	8/8	OMIM:616629
26146	TRAF3IP1	HP:0003774	Stage 5 chronic kidney disease	HP:0040281	ORPHA:3156
26146	TRAF3IP1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
26146	TRAF3IP1	HP:0001293	Cranial nerve compression	-	OMIM:131300
26146	TRAF3IP1	HP:0001252	Hypotonia	2/7	OMIM:615777
26146	TRAF3IP1	HP:0001251	Ataxia	HP:0040283	ORPHA:3156
26146	TRAF3IP1	HP:0001249	Intellectual disability	5/7	OMIM:615777
26146	TRAF3IP1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3156
26146	TRAF3IP1	HP:0001263	Global developmental delay	-	OMIM:615777
26146	TRAF3IP1	HP:0001263	Global developmental delay	3/8	OMIM:616629
26146	TRAF3IP1	HP:0002515	Waddling gait	54/102	OMIM:131300
26146	TRAF3IP1	HP:0000090	Nephronophthisis	7/8	OMIM:616629
26146	TRAF3IP1	HP:0000090	Nephronophthisis	HP:0040282	ORPHA:3156
26146	TRAF3IP1	HP:0008802	Hypoplasia of the femoral head	2/8	OMIM:616629
26146	TRAF3IP1	HP:0001396	Cholestasis	1/8	OMIM:616629
26146	TRAF3IP1	HP:0001395	Hepatic fibrosis	2/8	OMIM:616629
26146	TRAF3IP1	HP:0001382	Joint hypermobility	-	OMIM:615777
26146	TRAF3IP1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
26146	TRAF3IP1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
26146	TRAF3IP1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
26146	TRAF3IP1	HP:0001324	Muscle weakness	40/96	OMIM:131300
26146	TRAF3IP1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
26146	TRAF3IP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
26146	TRAF3IP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
26146	TRAF3IP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616629
26146	TRAF3IP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
26146	TRAF3IP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
26146	TRAF3IP1	HP:0002650	Scoliosis	12/14	OMIM:131300
26146	TRAF3IP1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
26146	TRAF3IP1	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:3156
26146	TRAF3IP1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
26146	TRAF3IP1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
26146	TRAF3IP1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
26146	TRAF3IP1	HP:0000175	Cleft palate	2/7	OMIM:615777
26146	TRAF3IP1	HP:0000135	Hypogonadism	1/8	OMIM:616629
26146	TRAF3IP1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
26146	TRAF3IP1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
26146	TRAF3IP1	HP:0003388	Easy fatigability	36/76	OMIM:131300
26146	TRAF3IP1	HP:0010442	Polydactyly	2/8	OMIM:616629
26146	TRAF3IP1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
26146	TRAF3IP1	HP:0008209	Premature ovarian insufficiency	HP:0040282	ORPHA:3156
26146	TRAF3IP1	HP:0010579	Cone-shaped epiphysis	HP:0040283	ORPHA:3156
26146	TRAF3IP1	HP:0003510	Severe short stature	7/7	OMIM:615777
26146	TRAF3IP1	HP:0002315	Headache	-	OMIM:131300
26146	TRAF3IP1	HP:0004976	Knee dislocation	6/7	OMIM:615777
26146	TRAF3IP1	HP:0009803	Short phalanx of finger	-	OMIM:615777
26146	TRAF3IP1	HP:0009763	Limb pain	63/92	OMIM:131300
26146	TRAF3IP1	HP:0003621	Juvenile onset	8/19	OMIM:180100
26146	TRAF3IP1	HP:0003621	Juvenile onset	-	OMIM:131300
26146	TRAF3IP1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
26146	TRAF3IP1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
26146	TRAF3IP1	HP:0001970	Tubulointerstitial nephritis	8/8	OMIM:616629
26146	TRAF3IP1	HP:0012622	Chronic kidney disease	HP:0040281	ORPHA:3156
26146	TRAF3IP1	HP:0000639	Nystagmus	2/8	OMIM:616629
26146	TRAF3IP1	HP:6001056	Out-toeing	-	OMIM:131300
26146	TRAF3IP1	HP:0000651	Diplopia	-	OMIM:131300
26146	TRAF3IP1	HP:0001956	Truncal obesity	2/7	OMIM:615777
26146	TRAF3IP1	HP:0000608	Macular degeneration	1/8	OMIM:616629
26146	TRAF3IP1	HP:0001903	Anemia	HP:0040283	OMIM:131300
26146	TRAF3IP1	HP:0010049	Short metacarpal	-	OMIM:615777
26146	TRAF3IP1	HP:0000678	Dental crowding	-	OMIM:615777
26146	TRAF3IP1	HP:0000662	Nyctalopia	26/28	OMIM:180100
26146	TRAF3IP1	HP:0000670	Carious teeth	-	OMIM:131300
26146	TRAF3IP1	HP:0011304	Broad thumb	2/7	OMIM:615777
26146	TRAF3IP1	HP:0000668	Hypodontia	-	OMIM:615777
26146	TRAF3IP1	HP:0000664	Synophrys	-	OMIM:615777
26146	TRAF3IP1	HP:0004322	Short stature	HP:0040281	ORPHA:3156
26146	TRAF3IP1	HP:0004396	Poor appetite	-	OMIM:131300
26146	TRAF3IP1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
26146	TRAF3IP1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
26146	TRAF3IP1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
26146	TRAF3IP1	HP:0003026	Short long bone	7/7	OMIM:615777
26146	TRAF3IP1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
26146	TRAF3IP1	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:3156
26146	TRAF3IP1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
26146	TRAF3IP1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
26146	TRAF3IP1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
26146	TRAF3IP1	HP:0000750	Delayed speech and language development	-	OMIM:615777
26146	TRAF3IP1	HP:0011463	Childhood onset	3/19	OMIM:180100
26146	TRAF3IP1	HP:0011462	Young adult onset	8/19	OMIM:180100
26146	TRAF3IP1	HP:0011461	Fetal onset	7/7	OMIM:615777
26146	TRAF3IP1	HP:0000774	Narrow chest	2/7	OMIM:615777
26146	TRAF3IP1	HP:0000926	Platyspondyly	1/7	OMIM:615777
26146	TRAF3IP1	HP:0003180	Flat acetabular roof	-	OMIM:615777
26146	TRAF3IP1	HP:0004482	Relative macrocephaly	-	OMIM:615777
26146	TRAF3IP1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
26146	TRAF3IP1	HP:0004469	Chronic bronchitis	2/8	OMIM:616629
26146	TRAF3IP1	HP:0000822	Hypertension	HP:0040281	ORPHA:3156
26146	TRAF3IP1	HP:0000823	Delayed puberty	-	OMIM:131300
26146	TRAF3IP1	HP:0000894	Short clavicles	-	OMIM:615777
26146	TRAF3IP1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
26146	TRAF3IP1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
26146	TRAF3IP1	HP:0000938	Osteopenia	1/8	OMIM:616629
26146	TRAF3IP1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:3156
26146	TRAF3IP1	HP:0000286	Epicanthus	1/7	OMIM:615777
26146	TRAF3IP1	HP:0000280	Coarse facial features	2/7	OMIM:615777
26146	TRAF3IP1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
26146	TRAF3IP1	HP:0002827	Hip dislocation	3/7	OMIM:615777
26146	TRAF3IP1	HP:0000252	Microcephaly	-	OMIM:615777
26146	TRAF3IP1	HP:0002857	Genu valgum	-	OMIM:131300
26146	TRAF3IP1	HP:0001533	Slender build	-	OMIM:131300
26146	TRAF3IP1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
26146	TRAF3IP1	HP:0001513	Obesity	4/8	OMIM:616629
26146	TRAF3IP1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
26146	TRAF3IP1	HP:0007807	Optic nerve compression	-	OMIM:131300
26146	TRAF3IP1	HP:0012368	Flat face	7/7	OMIM:615777
26146	TRAF3IP1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
26146	TRAF3IP1	HP:0000365	Hearing impairment	10/67	OMIM:131300
26146	TRAF3IP1	HP:0000343	Long philtrum	1/7	OMIM:615777
26146	TRAF3IP1	HP:0011001	Increased bone mineral density	-	OMIM:131300
26146	TRAF3IP1	HP:0000311	Round face	2/7	OMIM:615777
26146	TRAF3IP1	HP:0002970	Genu varum	-	OMIM:615777
26146	TRAF3IP1	HP:0000303	Mandibular prognathia	-	OMIM:131300
26146	TRAF3IP1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
26146	TRAF3IP1	HP:0000486	Strabismus	1/8	OMIM:616629
26146	TRAF3IP1	HP:0000470	Short neck	1/7	OMIM:615777
26146	TRAF3IP1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
26146	TRAF3IP1	HP:0001763	Pes planus	1/7	OMIM:615777
26146	TRAF3IP1	HP:0000518	Cataract	HP:0040283	ORPHA:3156
26146	TRAF3IP1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
26146	TRAF3IP1	HP:0000510	Rod-cone dystrophy	7/8	OMIM:616629
26146	TRAF3IP1	HP:0001840	Metatarsus adductus	-	OMIM:615777
26146	TRAF3IP1	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:3156
26146	TRAF3IP1	HP:0000520	Proptosis	2/4	OMIM:131300
26146	TRAF3IP1	HP:0000520	Proptosis	7/7	OMIM:615777
26146	TRAF3IP1	HP:0000505	Visual impairment	HP:0040281	ORPHA:3156
26146	TRAF3IP1	HP:0000575	Scotoma	5/18	OMIM:180100
26146	TRAF3IP1	HP:0000592	Blue sclerae	2/7	OMIM:615777
26146	TRAF3IP1	HP:0000556	Retinal dystrophy	-	OMIM:616629
26146	TRAF3IP1	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:3156
26146	TRAF3IP1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
26146	TRAF3IP1	HP:0012514	Lower limb pain	4/4	OMIM:131300
26146	TRAF3IP1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
26146	TRAF3IP1	HP:0000545	Myopia	-	OMIM:180100
26153	KIF26A	HP:0001156	Brachydactyly	1/4	OMIM:620156
26153	KIF26A	HP:0010963	Absence of stomach bubble on fetal sonography	1/4	OMIM:620156
26153	KIF26A	HP:0001274	Agenesis of corpus callosum	1/5	OMIM:620156
26153	KIF26A	HP:0001250	Seizure	1/3	OMIM:620156
26153	KIF26A	HP:0001252	Hypotonia	1/5	OMIM:620156
26153	KIF26A	HP:0002595	Ileus	1/4	OMIM:620156
26153	KIF26A	HP:0001263	Global developmental delay	2/2	OMIM:620156
26153	KIF26A	HP:0000007	Autosomal recessive inheritance	-	OMIM:620156
26153	KIF26A	HP:0002705	High, narrow palate	1/4	OMIM:620156
26153	KIF26A	HP:0002079	Hypoplasia of the corpus callosum	3/5	OMIM:620156
26153	KIF26A	HP:0002059	Cerebral atrophy	1/5	OMIM:620156
26153	KIF26A	HP:0002119	Ventriculomegaly	2/4	OMIM:620156
26153	KIF26A	HP:0002126	Polymicrogyria	2/5	OMIM:620156
26153	KIF26A	HP:0003577	Congenital onset	5/5	OMIM:620156
26153	KIF26A	HP:0010636	Schizencephaly	1/5	OMIM:620156
26153	KIF26A	HP:0000601	Hypotelorism	1/4	OMIM:620156
26153	KIF26A	HP:0000664	Synophrys	1/4	OMIM:620156
26153	KIF26A	HP:0034295	Reduced cerebral white matter volume	1/4	OMIM:620156
26153	KIF26A	HP:0045025	Narrow palpebral fissure	1/4	OMIM:620156
26153	KIF26A	HP:0000278	Retrognathia	1/4	OMIM:620156
26153	KIF26A	HP:0002803	Congenital contracture	1/5	OMIM:620156
26153	KIF26A	HP:0000238	Hydrocephalus	1/4	OMIM:620156
26153	KIF26A	HP:0000218	High palate	1/4	OMIM:620156
26153	KIF26A	HP:0030048	Colpocephaly	1/4	OMIM:620156
26153	KIF26A	HP:0001510	Growth delay	1/4	OMIM:620156
26153	KIF26A	HP:0000369	Low-set ears	1/4	OMIM:620156
26153	KIF26A	HP:0000341	Narrow forehead	1/4	OMIM:620156
26153	KIF26A	HP:0000343	Long philtrum	1/4	OMIM:620156
26153	KIF26A	HP:0000347	Micrognathia	1/4	OMIM:620156
26153	KIF26A	HP:0000319	Smooth philtrum	1/4	OMIM:620156
26153	KIF26A	HP:0000322	Short philtrum	1/4	OMIM:620156
26153	KIF26A	HP:0000470	Short neck	1/4	OMIM:620156
26154	ABCA12	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:457
26154	ABCA12	HP:0100806	Sepsis	HP:0040283	ORPHA:313
26154	ABCA12	HP:0001270	Motor delay	1/12	OMIM:242500
26154	ABCA12	HP:0001258	Spastic paraplegia	0/8	OMIM:601277
26154	ABCA12	HP:0007431	Congenital ichthyosiform erythroderma	12/12	OMIM:242500
26154	ABCA12	HP:0007431	Congenital ichthyosiform erythroderma	HP:0040281	ORPHA:457
26154	ABCA12	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:313
26154	ABCA12	HP:0001217	Clubbing	1/15	OMIM:601277
26154	ABCA12	HP:0003811	Neonatal death	2/12	OMIM:242500
26154	ABCA12	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:313
26154	ABCA12	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:457
26154	ABCA12	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	15/15	OMIM:601277
26154	ABCA12	HP:0000007	Autosomal recessive inheritance	-	OMIM:601277
26154	ABCA12	HP:0000007	Autosomal recessive inheritance	-	OMIM:242500
26154	ABCA12	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:313
26154	ABCA12	HP:0001433	Hepatosplenomegaly	0/8	OMIM:601277
26154	ABCA12	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:313
26154	ABCA12	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:457
26154	ABCA12	HP:0002063	Rigidity	-	OMIM:242500
26154	ABCA12	HP:0002047	Malignant hyperthermia	HP:0040283	ORPHA:457
26154	ABCA12	HP:0003577	Congenital onset	15/15	OMIM:601277
26154	ABCA12	HP:0003577	Congenital onset	12/12	OMIM:242500
26154	ABCA12	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:457
26154	ABCA12	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:457
26154	ABCA12	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:313
26154	ABCA12	HP:0100758	Gangrene	HP:0040283	ORPHA:313
26154	ABCA12	HP:0001019	Erythroderma	HP:0040282	ORPHA:457
26154	ABCA12	HP:0001019	Erythroderma	HP:0040281	ORPHA:79394
26154	ABCA12	HP:0001019	Erythroderma	HP:0040281	ORPHA:313
26154	ABCA12	HP:0200020	Corneal erosion	HP:0040282	ORPHA:79394
26154	ABCA12	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:313
26154	ABCA12	HP:0001944	Dehydration	HP:0040283	ORPHA:313
26154	ABCA12	HP:0001944	Dehydration	HP:0040283	ORPHA:457
26154	ABCA12	HP:0000656	Ectropion	3/12	OMIM:242500
26154	ABCA12	HP:0000656	Ectropion	HP:0040281	ORPHA:457
26154	ABCA12	HP:0000656	Ectropion	14/15	OMIM:601277
26154	ABCA12	HP:0000656	Ectropion	HP:0040281	ORPHA:79394
26154	ABCA12	HP:0000656	Ectropion	HP:0040281	ORPHA:313
26154	ABCA12	HP:0004322	Short stature	HP:0040283	ORPHA:313
26154	ABCA12	HP:0004322	Short stature	HP:0040283	ORPHA:79394
26154	ABCA12	HP:0000989	Pruritus	HP:0040281	ORPHA:313
26154	ABCA12	HP:0000989	Pruritus	HP:0040281	ORPHA:79394
26154	ABCA12	HP:0000982	Palmoplantar keratoderma	14/15	OMIM:601277
26154	ABCA12	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:79394
26154	ABCA12	HP:0000958	Dry skin	HP:0040281	ORPHA:313
26154	ABCA12	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:79394
26154	ABCA12	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:313
26154	ABCA12	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:457
26154	ABCA12	HP:0008070	Sparse hair	HP:0040281	ORPHA:313
26154	ABCA12	HP:0008064	Ichthyosis	HP:0040281	ORPHA:313
26154	ABCA12	HP:0008064	Ichthyosis	HP:0040281	ORPHA:457
26154	ABCA12	HP:0008064	Ichthyosis	HP:0040281	ORPHA:79394
26154	ABCA12	HP:0009381	Short finger	-	OMIM:242500
26154	ABCA12	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:79394
26154	ABCA12	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:313
26154	ABCA12	HP:0001596	Alopecia	HP:0040282	ORPHA:79394
26154	ABCA12	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:313
26154	ABCA12	HP:0000232	Everted lower lip vermilion	-	OMIM:242500
26154	ABCA12	HP:0001522	Death in infancy	2/12	OMIM:242500
26154	ABCA12	HP:0001508	Failure to thrive	3/12	OMIM:242500
26154	ABCA12	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79394
26154	ABCA12	HP:0011039	Abnormal helix morphology	HP:0040282	ORPHA:313
26154	ABCA12	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:313
26154	ABCA12	HP:0000365	Hearing impairment	HP:0040282	ORPHA:79394
26154	ABCA12	HP:0000364	Hearing abnormality	HP:0040281	ORPHA:457
26154	ABCA12	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:457
26154	ABCA12	HP:0001622	Premature birth	9/12	OMIM:242500
26154	ABCA12	HP:0012472	Eclabion	HP:0040282	ORPHA:457
26154	ABCA12	HP:0000491	Keratitis	HP:0040282	ORPHA:79394
26154	ABCA12	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:457
26154	ABCA12	HP:0000518	Cataract	HP:0040283	ORPHA:457
26154	ABCA12	HP:0000520	Proptosis	-	OMIM:242500
26154	ABCA12	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:457
26154	ABCA12	HP:0001820	Leukonychia	1/15	OMIM:601277
26160	IFT172	HP:0001156	Brachydactyly	HP:0040282	ORPHA:474
26160	IFT172	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
26160	IFT172	HP:0001156	Brachydactyly	-	OMIM:615630
26160	IFT172	HP:0001162	Postaxial hand polydactyly	HP:0040283	OMIM:615630
26160	IFT172	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:474
26160	IFT172	HP:0001162	Postaxial hand polydactyly	1/2	OMIM:619471
26160	IFT172	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
26160	IFT172	HP:0001133	Constriction of peripheral visual field	1/1	OMIM:619471
26160	IFT172	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
26160	IFT172	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
26160	IFT172	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
26160	IFT172	HP:0001293	Cranial nerve compression	-	OMIM:131300
26160	IFT172	HP:0001250	Seizure	HP:0040283	ORPHA:110
26160	IFT172	HP:0001252	Hypotonia	2/7	OMIM:615777
26160	IFT172	HP:0001251	Ataxia	HP:0040283	ORPHA:110
26160	IFT172	HP:0001249	Intellectual disability	-	OMIM:615630
26160	IFT172	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
26160	IFT172	HP:0001249	Intellectual disability	5/7	OMIM:615777
26160	IFT172	HP:0001263	Global developmental delay	2/2	OMIM:619471
26160	IFT172	HP:0001263	Global developmental delay	-	OMIM:615777
26160	IFT172	HP:0001257	Spasticity	HP:0040283	ORPHA:110
26160	IFT172	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
26160	IFT172	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
26160	IFT172	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
26160	IFT172	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
26160	IFT172	HP:0008689	Bilateral cryptorchidism	1/2	OMIM:619471
26160	IFT172	HP:0002515	Waddling gait	54/102	OMIM:131300
26160	IFT172	HP:0002516	Increased intracranial pressure	1/1	OMIM:619471
26160	IFT172	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:474
26160	IFT172	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
26160	IFT172	HP:0000090	Nephronophthisis	HP:0040283	ORPHA:474
26160	IFT172	HP:0000090	Nephronophthisis	-	OMIM:615630
26160	IFT172	HP:0000093	Proteinuria	1/1	OMIM:619471
26160	IFT172	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
26160	IFT172	HP:0001396	Cholestasis	-	OMIM:615630
26160	IFT172	HP:0001399	Hepatic failure	-	OMIM:615630
26160	IFT172	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:474
26160	IFT172	HP:0001395	Hepatic fibrosis	-	OMIM:615630
26160	IFT172	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
26160	IFT172	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
26160	IFT172	HP:0012047	Hemeralopia	1/2	OMIM:619471
26160	IFT172	HP:0000054	Micropenis	1/2	OMIM:619471
26160	IFT172	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
26160	IFT172	HP:0001382	Joint hypermobility	-	OMIM:615777
26160	IFT172	HP:0002694	Sclerosis of skull base	-	OMIM:131300
26160	IFT172	HP:0000026	Male hypogonadism	1/2	OMIM:619471
26160	IFT172	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
26160	IFT172	HP:0008897	Postnatal growth retardation	-	OMIM:615777
26160	IFT172	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:474
26160	IFT172	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
26160	IFT172	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
26160	IFT172	HP:0001324	Muscle weakness	40/96	OMIM:131300
26160	IFT172	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
26160	IFT172	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
26160	IFT172	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
26160	IFT172	HP:0000007	Autosomal recessive inheritance	-	OMIM:616394
26160	IFT172	HP:0000007	Autosomal recessive inheritance	-	OMIM:619471
26160	IFT172	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
26160	IFT172	HP:0000007	Autosomal recessive inheritance	-	OMIM:615630
26160	IFT172	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
26160	IFT172	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
26160	IFT172	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:474
26160	IFT172	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	OMIM:615630
26160	IFT172	HP:0002650	Scoliosis	1/2	OMIM:616394
26160	IFT172	HP:0002650	Scoliosis	12/14	OMIM:131300
26160	IFT172	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
26160	IFT172	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:474
26160	IFT172	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
26160	IFT172	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
26160	IFT172	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
26160	IFT172	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
26160	IFT172	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
26160	IFT172	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
26160	IFT172	HP:0000175	Cleft palate	2/7	OMIM:615777
26160	IFT172	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
26160	IFT172	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
26160	IFT172	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
26160	IFT172	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
26160	IFT172	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
26160	IFT172	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
26160	IFT172	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
26160	IFT172	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
26160	IFT172	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
26160	IFT172	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
26160	IFT172	HP:0000112	Nephropathy	HP:0040283	ORPHA:474
26160	IFT172	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
26160	IFT172	HP:0004691	2-3 toe syndactyly	1/2	OMIM:619471
26160	IFT172	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
26160	IFT172	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
26160	IFT172	HP:0002099	Asthma	1/2	OMIM:619471
26160	IFT172	HP:0002099	Asthma	HP:0040283	ORPHA:110
26160	IFT172	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:474
26160	IFT172	HP:0003388	Easy fatigability	36/76	OMIM:131300
26160	IFT172	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
26160	IFT172	HP:0040270	Impaired glucose tolerance	HP:0040284	OMIM:615630
26160	IFT172	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
26160	IFT172	HP:0002119	Ventriculomegaly	HP:0040283	OMIM:615630
26160	IFT172	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
26160	IFT172	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:474
26160	IFT172	HP:0003577	Congenital onset	1/1	OMIM:619471
26160	IFT172	HP:0002240	Hepatomegaly	-	OMIM:615630
26160	IFT172	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
26160	IFT172	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
26160	IFT172	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
26160	IFT172	HP:0003510	Severe short stature	7/7	OMIM:615777
26160	IFT172	HP:0002315	Headache	-	OMIM:131300
26160	IFT172	HP:0004976	Knee dislocation	6/7	OMIM:615777
26160	IFT172	HP:0009803	Short phalanx of finger	-	OMIM:615777
26160	IFT172	HP:0001085	Papilledema	1/1	OMIM:619471
26160	IFT172	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
26160	IFT172	HP:0009763	Limb pain	63/92	OMIM:131300
26160	IFT172	HP:0003621	Juvenile onset	8/19	OMIM:180100
26160	IFT172	HP:0003621	Juvenile onset	-	OMIM:131300
26160	IFT172	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
26160	IFT172	HP:0006889	Intellectual disability, borderline	1/1	OMIM:619471
26160	IFT172	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
26160	IFT172	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
26160	IFT172	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
26160	IFT172	HP:0012622	Chronic kidney disease	-	OMIM:615630
26160	IFT172	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
26160	IFT172	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
26160	IFT172	HP:6001056	Out-toeing	-	OMIM:131300
26160	IFT172	HP:0000651	Diplopia	-	OMIM:131300
26160	IFT172	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
26160	IFT172	HP:0000618	Blindness	HP:0040281	ORPHA:791
26160	IFT172	HP:0000618	Blindness	HP:0040282	ORPHA:110
26160	IFT172	HP:0000613	Photophobia	HP:0040282	ORPHA:110
26160	IFT172	HP:0000613	Photophobia	HP:0040281	ORPHA:791
26160	IFT172	HP:0001956	Truncal obesity	2/7	OMIM:615777
26160	IFT172	HP:0001952	Glucose intolerance	HP:0040283	OMIM:615630
26160	IFT172	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
26160	IFT172	HP:0001903	Anemia	HP:0040283	OMIM:131300
26160	IFT172	HP:0010049	Short metacarpal	-	OMIM:615777
26160	IFT172	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
26160	IFT172	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
26160	IFT172	HP:0000678	Dental crowding	-	OMIM:615777
26160	IFT172	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
26160	IFT172	HP:0000691	Microdontia	HP:0040283	ORPHA:110
26160	IFT172	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
26160	IFT172	HP:0000662	Nyctalopia	HP:0040283	OMIM:615630
26160	IFT172	HP:0000662	Nyctalopia	2/2	OMIM:619471
26160	IFT172	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
26160	IFT172	HP:0000662	Nyctalopia	26/28	OMIM:180100
26160	IFT172	HP:0000662	Nyctalopia	2/2	OMIM:616394
26160	IFT172	HP:0000657	Oculomotor apraxia	HP:0040283	OMIM:615630
26160	IFT172	HP:0000670	Carious teeth	-	OMIM:131300
26160	IFT172	HP:0011304	Broad thumb	2/7	OMIM:615777
26160	IFT172	HP:0000668	Hypodontia	-	OMIM:615777
26160	IFT172	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
26160	IFT172	HP:0000664	Synophrys	-	OMIM:615777
26160	IFT172	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
26160	IFT172	HP:0004322	Short stature	-	OMIM:615630
26160	IFT172	HP:0004322	Short stature	HP:0040282	ORPHA:110
26160	IFT172	HP:0004322	Short stature	HP:0040283	ORPHA:474
26160	IFT172	HP:0030629	Perifoveal ring of hyperautofluorescence	2/2	OMIM:616394
26160	IFT172	HP:0004396	Poor appetite	-	OMIM:131300
26160	IFT172	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
26160	IFT172	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
26160	IFT172	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
26160	IFT172	HP:0003026	Short long bone	-	OMIM:615630
26160	IFT172	HP:0003026	Short long bone	7/7	OMIM:615777
26160	IFT172	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
26160	IFT172	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:474
26160	IFT172	HP:0000767	Pectus excavatum	2/7	OMIM:615777
26160	IFT172	HP:0000766	Abnormal sternum morphology	HP:0040282	ORPHA:474
26160	IFT172	HP:0000768	Pectus carinatum	1/7	OMIM:615777
26160	IFT172	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
26160	IFT172	HP:0000739	Anxiety	HP:0040283	ORPHA:110
26160	IFT172	HP:0000736	Short attention span	HP:0040282	ORPHA:110
26160	IFT172	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
26160	IFT172	HP:0000750	Delayed speech and language development	2/2	OMIM:619471
26160	IFT172	HP:0000750	Delayed speech and language development	-	OMIM:615777
26160	IFT172	HP:0000716	Depression	HP:0040282	ORPHA:110
26160	IFT172	HP:0000717	Autism	HP:0040282	ORPHA:110
26160	IFT172	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
26160	IFT172	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
26160	IFT172	HP:0011463	Childhood onset	3/19	OMIM:180100
26160	IFT172	HP:0011462	Young adult onset	8/19	OMIM:180100
26160	IFT172	HP:0011461	Fetal onset	7/7	OMIM:615777
26160	IFT172	HP:0000774	Narrow chest	HP:0040281	ORPHA:474
26160	IFT172	HP:0000774	Narrow chest	2/7	OMIM:615777
26160	IFT172	HP:0000773	Short ribs	-	OMIM:615630
26160	IFT172	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
26160	IFT172	HP:0000789	Infertility	HP:0040283	ORPHA:110
26160	IFT172	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
26160	IFT172	HP:0003124	Hypercholesterolemia	1/2	OMIM:619471
26160	IFT172	HP:0030786	Photopsia	HP:0040283	ORPHA:791
26160	IFT172	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
26160	IFT172	HP:0000926	Platyspondyly	1/7	OMIM:615777
26160	IFT172	HP:0003180	Flat acetabular roof	-	OMIM:615777
26160	IFT172	HP:0004482	Relative macrocephaly	-	OMIM:615777
26160	IFT172	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
26160	IFT172	HP:0000889	Abnormal clavicle morphology	HP:0040282	ORPHA:474
26160	IFT172	HP:0012841	Retinal vascular tortuosity	1/1	OMIM:619471
26160	IFT172	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
26160	IFT172	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
26160	IFT172	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
26160	IFT172	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
26160	IFT172	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
26160	IFT172	HP:0000822	Hypertension	HP:0040282	ORPHA:110
26160	IFT172	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
26160	IFT172	HP:0000823	Delayed puberty	-	OMIM:131300
26160	IFT172	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	-	OMIM:615630
26160	IFT172	HP:0000895	Lateral clavicle hook	-	OMIM:615630
26160	IFT172	HP:0000894	Short clavicles	-	OMIM:615777
26160	IFT172	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
26160	IFT172	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
26160	IFT172	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
26160	IFT172	HP:0100259	Postaxial polydactyly	1/2	OMIM:619471
26160	IFT172	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
26160	IFT172	HP:0010306	Short thorax	HP:0040281	ORPHA:474
26160	IFT172	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
26160	IFT172	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:474
26160	IFT172	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
26160	IFT172	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:474
26160	IFT172	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
26160	IFT172	HP:0000286	Epicanthus	1/7	OMIM:615777
26160	IFT172	HP:0000280	Coarse facial features	2/7	OMIM:615777
26160	IFT172	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
26160	IFT172	HP:0001591	Bell-shaped thorax	-	OMIM:615630
26160	IFT172	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
26160	IFT172	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
26160	IFT172	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
26160	IFT172	HP:0002827	Hip dislocation	3/7	OMIM:615777
26160	IFT172	HP:0000238	Hydrocephalus	HP:0040283	OMIM:615630
26160	IFT172	HP:0000252	Microcephaly	-	OMIM:615777
26160	IFT172	HP:0000218	High palate	HP:0040282	ORPHA:110
26160	IFT172	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
26160	IFT172	HP:0002857	Genu valgum	-	OMIM:131300
26160	IFT172	HP:0002857	Genu valgum	HP:0040283	OMIM:615630
26160	IFT172	HP:0000202	Orofacial cleft	HP:0040283	OMIM:615630
26160	IFT172	HP:0001533	Slender build	-	OMIM:131300
26160	IFT172	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
26160	IFT172	HP:0001513	Obesity	HP:0040281	ORPHA:110
26160	IFT172	HP:0001513	Obesity	HP:0040283	OMIM:615630
26160	IFT172	HP:0001513	Obesity	5/5	OMIM:619471
26160	IFT172	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
26160	IFT172	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
26160	IFT172	HP:0007843	Attenuation of retinal blood vessels	1/1	OMIM:616394
26160	IFT172	HP:0007807	Optic nerve compression	-	OMIM:131300
26160	IFT172	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
26160	IFT172	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
26160	IFT172	HP:0012368	Flat face	7/7	OMIM:615777
26160	IFT172	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
26160	IFT172	HP:0000388	Otitis media	HP:0040283	ORPHA:110
26160	IFT172	HP:0005257	Thoracic hypoplasia	-	OMIM:615630
26160	IFT172	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
26160	IFT172	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
26160	IFT172	HP:0002910	Elevated circulating hepatic transaminase concentration	2/2	OMIM:619471
26160	IFT172	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
26160	IFT172	HP:0000365	Hearing impairment	10/67	OMIM:131300
26160	IFT172	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
26160	IFT172	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
26160	IFT172	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
26160	IFT172	HP:0000343	Long philtrum	1/7	OMIM:615777
26160	IFT172	HP:0011001	Increased bone mineral density	-	OMIM:131300
26160	IFT172	HP:0002983	Micromelia	HP:0040281	ORPHA:474
26160	IFT172	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
26160	IFT172	HP:0000311	Round face	2/7	OMIM:615777
26160	IFT172	HP:0001629	Ventricular septal defect	HP:0040283	OMIM:615630
26160	IFT172	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
26160	IFT172	HP:0002970	Genu varum	-	OMIM:615777
26160	IFT172	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
26160	IFT172	HP:0001631	Atrial septal defect	1/1	OMIM:619471
26160	IFT172	HP:0000303	Mandibular prognathia	-	OMIM:131300
26160	IFT172	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
26160	IFT172	HP:0006644	Thoracic dysplasia	-	OMIM:615630
26160	IFT172	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
26160	IFT172	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
26160	IFT172	HP:0000400	Macrotia	HP:0040283	ORPHA:110
26160	IFT172	HP:0001733	Pancreatitis	1/2	OMIM:619471
26160	IFT172	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
26160	IFT172	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
26160	IFT172	HP:0000483	Astigmatism	1/1	OMIM:619471
26160	IFT172	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
26160	IFT172	HP:0000486	Strabismus	HP:0040283	ORPHA:110
26160	IFT172	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
26160	IFT172	HP:0000470	Short neck	HP:0040283	ORPHA:110
26160	IFT172	HP:0000470	Short neck	1/7	OMIM:615777
26160	IFT172	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:474
26160	IFT172	HP:0001773	Short foot	HP:0040282	ORPHA:474
26160	IFT172	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
26160	IFT172	HP:0012426	Optic disc drusen	2/2	OMIM:616394
26160	IFT172	HP:0001769	Broad foot	HP:0040283	OMIM:615777
26160	IFT172	HP:0001763	Pes planus	1/7	OMIM:615777
26160	IFT172	HP:0001744	Splenomegaly	-	OMIM:615630
26160	IFT172	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
26160	IFT172	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
26160	IFT172	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040283	ORPHA:474
26160	IFT172	HP:0000518	Cataract	HP:0040283	ORPHA:110
26160	IFT172	HP:0001841	Preaxial foot polydactyly	1/2	OMIM:619471
26160	IFT172	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
26160	IFT172	HP:0000510	Rod-cone dystrophy	-	OMIM:616394
26160	IFT172	HP:0000510	Rod-cone dystrophy	1/2	OMIM:619471
26160	IFT172	HP:0001840	Metatarsus adductus	-	OMIM:615777
26160	IFT172	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
26160	IFT172	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
26160	IFT172	HP:0000520	Proptosis	2/4	OMIM:131300
26160	IFT172	HP:0000520	Proptosis	7/7	OMIM:615777
26160	IFT172	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
26160	IFT172	HP:0001830	Postaxial foot polydactyly	HP:0040283	ORPHA:474
26160	IFT172	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
26160	IFT172	HP:0000575	Scotoma	5/18	OMIM:180100
26160	IFT172	HP:0000592	Blue sclerae	2/7	OMIM:615777
26160	IFT172	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
26160	IFT172	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
26160	IFT172	HP:0000540	Hypermetropia	1/1	OMIM:619471
26160	IFT172	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
26160	IFT172	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
26160	IFT172	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
26160	IFT172	HP:0012514	Lower limb pain	4/4	OMIM:131300
26160	IFT172	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
26160	IFT172	HP:0000546	Retinal degeneration	-	OMIM:615630
26160	IFT172	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
26160	IFT172	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
26160	IFT172	HP:0000543	Optic disc pallor	1/1	OMIM:180100
26160	IFT172	HP:0000543	Optic disc pallor	1/1	OMIM:616394
26160	IFT172	HP:0000545	Myopia	-	OMIM:180100
26173	INTS1	HP:0001288	Gait disturbance	7/8	OMIM:618571
26173	INTS1	HP:0001250	Seizure	1/8	OMIM:618571
26173	INTS1	HP:0001252	Hypotonia	5/5	OMIM:618571
26173	INTS1	HP:0001263	Global developmental delay	5/5	OMIM:618571
26173	INTS1	HP:0002540	Inability to walk	1/3	OMIM:618571
26173	INTS1	HP:0001344	Absent speech	8/8	OMIM:618571
26173	INTS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618571
26173	INTS1	HP:0002650	Scoliosis	1/5	OMIM:618571
26173	INTS1	HP:0000175	Cleft palate	1/3	OMIM:618571
26173	INTS1	HP:0410030	Cleft lip	1/3	OMIM:618571
26173	INTS1	HP:0000110	Renal dysplasia	1/3	OMIM:618571
26173	INTS1	HP:0002714	Downturned corners of mouth	4/5	OMIM:618571
26173	INTS1	HP:0002002	Deep philtrum	2/5	OMIM:618571
26173	INTS1	HP:0002007	Frontal bossing	5/8	OMIM:618571
26173	INTS1	HP:0007068	Inferior cerebellar vermis hypoplasia	1/3	OMIM:618571
26173	INTS1	HP:0011344	Severe global developmental delay	3/3	OMIM:618571
26173	INTS1	HP:0004322	Short stature	3/3	OMIM:618571
26173	INTS1	HP:0000767	Pectus excavatum	2/5	OMIM:618571
26173	INTS1	HP:0000729	Autistic behavior	3/5	OMIM:618571
26173	INTS1	HP:0003196	Short nose	1/5	OMIM:618571
26173	INTS1	HP:0045025	Narrow palpebral fissure	2/5	OMIM:618571
26173	INTS1	HP:0000286	Epicanthus	2/5	OMIM:618571
26173	INTS1	HP:0000293	Full cheeks	2/5	OMIM:618571
26173	INTS1	HP:0000268	Dolichocephaly	3/3	OMIM:618571
26173	INTS1	HP:0000369	Low-set ears	2/5	OMIM:618571
26173	INTS1	HP:0000343	Long philtrum	2/5	OMIM:618571
26173	INTS1	HP:0000316	Hypertelorism	7/8	OMIM:618571
26173	INTS1	HP:0001627	Abnormal heart morphology	1/3	OMIM:618571
26173	INTS1	HP:0000308	Microretrognathia	4/5	OMIM:618571
26173	INTS1	HP:0000483	Astigmatism	2/5	OMIM:618571
26173	INTS1	HP:0000486	Strabismus	1/5	OMIM:618571
26173	INTS1	HP:0000480	Retinal coloboma	1/5	OMIM:618571
26173	INTS1	HP:0000470	Short neck	2/5	OMIM:618571
26173	INTS1	HP:0000414	Bulbous nose	3/5	OMIM:618571
26173	INTS1	HP:0000411	Protruding ear	2/5	OMIM:618571
26173	INTS1	HP:0000431	Wide nasal bridge	4/5	OMIM:618571
26173	INTS1	HP:0000518	Cataract	8/8	OMIM:618571
26173	INTS1	HP:0001845	Overlapping toe	5/8	OMIM:618571
26173	INTS1	HP:0011228	Horizontal eyebrow	2/5	OMIM:618571
26173	INTS1	HP:0000568	Microphthalmia	2/5	OMIM:618571
26175	LYSET	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
26175	LYSET	HP:0001293	Cranial nerve compression	-	OMIM:131300
26175	LYSET	HP:0001288	Gait disturbance	5/6	OMIM:619345
26175	LYSET	HP:0001252	Hypotonia	2/7	OMIM:615777
26175	LYSET	HP:0001249	Intellectual disability	5/7	OMIM:615777
26175	LYSET	HP:0001263	Global developmental delay	-	OMIM:615777
26175	LYSET	HP:0003886	Wide humerus	1/3	OMIM:619345
26175	LYSET	HP:0002515	Waddling gait	54/102	OMIM:131300
26175	LYSET	HP:0001382	Joint hypermobility	-	OMIM:615777
26175	LYSET	HP:0002694	Sclerosis of skull base	-	OMIM:131300
26175	LYSET	HP:0008897	Postnatal growth retardation	-	OMIM:615777
26175	LYSET	HP:0033725	Thin corpus callosum	1/1	OMIM:619345
26175	LYSET	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
26175	LYSET	HP:0001324	Muscle weakness	40/96	OMIM:131300
26175	LYSET	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
26175	LYSET	HP:0000007	Autosomal recessive inheritance	-	OMIM:619345
26175	LYSET	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
26175	LYSET	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
26175	LYSET	HP:0002650	Scoliosis	3/3	OMIM:619345
26175	LYSET	HP:0002650	Scoliosis	12/14	OMIM:131300
26175	LYSET	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
26175	LYSET	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
26175	LYSET	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
26175	LYSET	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
26175	LYSET	HP:0000175	Cleft palate	2/7	OMIM:615777
26175	LYSET	HP:0003388	Easy fatigability	36/76	OMIM:131300
26175	LYSET	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
26175	LYSET	HP:0003593	Infantile onset	6/6	OMIM:619345
26175	LYSET	HP:0003510	Severe short stature	7/7	OMIM:615777
26175	LYSET	HP:0003510	Severe short stature	5/5	OMIM:619345
26175	LYSET	HP:0002315	Headache	-	OMIM:131300
26175	LYSET	HP:0004976	Knee dislocation	6/7	OMIM:615777
26175	LYSET	HP:0009803	Short phalanx of finger	-	OMIM:615777
26175	LYSET	HP:0009763	Limb pain	63/92	OMIM:131300
26175	LYSET	HP:0003621	Juvenile onset	-	OMIM:131300
26175	LYSET	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
26175	LYSET	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
26175	LYSET	HP:6001056	Out-toeing	-	OMIM:131300
26175	LYSET	HP:0000651	Diplopia	-	OMIM:131300
26175	LYSET	HP:0001956	Truncal obesity	2/7	OMIM:615777
26175	LYSET	HP:0001903	Anemia	HP:0040283	OMIM:131300
26175	LYSET	HP:0010049	Short metacarpal	-	OMIM:615777
26175	LYSET	HP:0000678	Dental crowding	-	OMIM:615777
26175	LYSET	HP:0000670	Carious teeth	-	OMIM:131300
26175	LYSET	HP:0011304	Broad thumb	2/7	OMIM:615777
26175	LYSET	HP:0000668	Hypodontia	-	OMIM:615777
26175	LYSET	HP:0000664	Synophrys	-	OMIM:615777
26175	LYSET	HP:0004396	Poor appetite	-	OMIM:131300
26175	LYSET	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
26175	LYSET	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
26175	LYSET	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
26175	LYSET	HP:0003026	Short long bone	7/7	OMIM:615777
26175	LYSET	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
26175	LYSET	HP:0000767	Pectus excavatum	2/7	OMIM:615777
26175	LYSET	HP:0000768	Pectus carinatum	1/7	OMIM:615777
26175	LYSET	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
26175	LYSET	HP:0000750	Delayed speech and language development	-	OMIM:615777
26175	LYSET	HP:0011461	Fetal onset	7/7	OMIM:615777
26175	LYSET	HP:0000774	Narrow chest	2/7	OMIM:615777
26175	LYSET	HP:0000926	Platyspondyly	1/7	OMIM:615777
26175	LYSET	HP:0003180	Flat acetabular roof	-	OMIM:615777
26175	LYSET	HP:0003180	Flat acetabular roof	1/3	OMIM:619345
26175	LYSET	HP:0004482	Relative macrocephaly	-	OMIM:615777
26175	LYSET	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
26175	LYSET	HP:0000823	Delayed puberty	-	OMIM:131300
26175	LYSET	HP:0000894	Short clavicles	-	OMIM:615777
26175	LYSET	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
26175	LYSET	HP:0003270	Abdominal distention	5/6	OMIM:619345
26175	LYSET	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
26175	LYSET	HP:0000943	Dysostosis multiplex	3/3	OMIM:619345
26175	LYSET	HP:0000286	Epicanthus	1/7	OMIM:615777
26175	LYSET	HP:0000280	Coarse facial features	2/7	OMIM:615777
26175	LYSET	HP:0000280	Coarse facial features	-	OMIM:619345
26175	LYSET	HP:0002827	Hip dislocation	3/7	OMIM:615777
26175	LYSET	HP:0002827	Hip dislocation	1/3	OMIM:619345
26175	LYSET	HP:0000252	Microcephaly	-	OMIM:615777
26175	LYSET	HP:0033985	Elongated femoral neck	1/3	OMIM:619345
26175	LYSET	HP:0002857	Genu valgum	-	OMIM:131300
26175	LYSET	HP:0001533	Slender build	-	OMIM:131300
26175	LYSET	HP:0002866	Hypoplastic iliac wing	1/1	OMIM:619345
26175	LYSET	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
26175	LYSET	HP:0007807	Optic nerve compression	-	OMIM:131300
26175	LYSET	HP:0012368	Flat face	7/7	OMIM:615777
26175	LYSET	HP:0002937	Hemivertebrae	1/3	OMIM:619345
26175	LYSET	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
26175	LYSET	HP:0000365	Hearing impairment	10/67	OMIM:131300
26175	LYSET	HP:0000343	Long philtrum	1/7	OMIM:615777
26175	LYSET	HP:0011001	Increased bone mineral density	-	OMIM:131300
26175	LYSET	HP:0000311	Round face	2/7	OMIM:615777
26175	LYSET	HP:0002970	Genu varum	-	OMIM:615777
26175	LYSET	HP:0000303	Mandibular prognathia	-	OMIM:131300
26175	LYSET	HP:0006633	Glenoid fossa hypoplasia	1/3	OMIM:619345
26175	LYSET	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
26175	LYSET	HP:0000470	Short neck	1/7	OMIM:615777
26175	LYSET	HP:0001769	Broad foot	HP:0040283	OMIM:615777
26175	LYSET	HP:0001763	Pes planus	1/7	OMIM:615777
26175	LYSET	HP:0001840	Metatarsus adductus	-	OMIM:615777
26175	LYSET	HP:0000520	Proptosis	2/4	OMIM:131300
26175	LYSET	HP:0000520	Proptosis	7/7	OMIM:615777
26175	LYSET	HP:0000592	Blue sclerae	2/7	OMIM:615777
26175	LYSET	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
26175	LYSET	HP:0012514	Lower limb pain	4/4	OMIM:131300
26191	PTPN22	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:85408
26191	PTPN22	HP:6000502	Elevated circulating calprotectin concentration	HP:0040282	ORPHA:397
26191	PTPN22	HP:0001123	Visual field defect	HP:0040283	ORPHA:397
26191	PTPN22	HP:0009926	Epiphora	HP:0040283	ORPHA:3437
26191	PTPN22	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
26191	PTPN22	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
26191	PTPN22	HP:0033557	Anti-proteinase 3 antibody positivity	HP:0040282	ORPHA:900
26191	PTPN22	HP:0033559	Anti-myeloperoxidase antibody positivity	HP:0040282	ORPHA:900
26191	PTPN22	HP:0032230	Cytoplasmic antineutrophil antibody positivity	HP:0040282	ORPHA:900
26191	PTPN22	HP:0100809	Scalp tenderness	HP:0040283	ORPHA:3437
26191	PTPN22	HP:0100809	Scalp tenderness	HP:0040283	ORPHA:397
26191	PTPN22	HP:0100820	Glomerulopathy	HP:0040281	ORPHA:900
26191	PTPN22	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
26191	PTPN22	HP:0001287	Meningitis	HP:0040283	ORPHA:397
26191	PTPN22	HP:0001287	Meningitis	HP:0040283	ORPHA:900
26191	PTPN22	HP:0001250	Seizure	-	OMIM:152700
26191	PTPN22	HP:0001250	Seizure	HP:0040283	ORPHA:536
26191	PTPN22	HP:0001250	Seizure	HP:0040283	ORPHA:900
26191	PTPN22	HP:0001251	Ataxia	HP:0040283	ORPHA:397
26191	PTPN22	HP:0001260	Dysarthria	HP:0040283	ORPHA:397
26191	PTPN22	HP:0002591	Polyphagia	-	OMIM:222100
26191	PTPN22	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
26191	PTPN22	HP:0033608	Pulmonary nodule	HP:0040283	ORPHA:900
26191	PTPN22	HP:6000710	Dalen Fuchs nodules	HP:0040283	ORPHA:3437
26191	PTPN22	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:397
26191	PTPN22	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:900
26191	PTPN22	HP:0000099	Glomerulonephritis	HP:0040282	ORPHA:900
26191	PTPN22	HP:0000093	Proteinuria	HP:0040282	ORPHA:900
26191	PTPN22	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
26191	PTPN22	HP:0001399	Hepatic failure	HP:0040283	ORPHA:397
26191	PTPN22	HP:0000071	Ureteral stenosis	HP:0040283	ORPHA:900
26191	PTPN22	HP:0025341	Corneal keratic precipitates	HP:0040283	ORPHA:3437
26191	PTPN22	HP:0001371	Flexion contracture	HP:0040283	ORPHA:85408
26191	PTPN22	HP:0001370	Rheumatoid arthritis	HP:0040283	ORPHA:85410
26191	PTPN22	HP:0001370	Rheumatoid arthritis	-	OMIM:180300
26191	PTPN22	HP:0001369	Arthritis	HP:0040282	ORPHA:397
26191	PTPN22	HP:0001369	Arthritis	HP:0040281	ORPHA:85410
26191	PTPN22	HP:0001369	Arthritis	HP:0040282	ORPHA:85408
26191	PTPN22	HP:0001369	Arthritis	HP:0040282	ORPHA:536
26191	PTPN22	HP:0001369	Arthritis	HP:0040282	ORPHA:900
26191	PTPN22	HP:0001369	Arthritis	-	OMIM:152700
26191	PTPN22	HP:0001386	Joint swelling	HP:0040282	ORPHA:85408
26191	PTPN22	HP:0001386	Joint swelling	-	OMIM:180300
26191	PTPN22	HP:0001387	Joint stiffness	HP:0040281	ORPHA:397
26191	PTPN22	HP:0001387	Joint stiffness	HP:0040282	ORPHA:85408
26191	PTPN22	HP:0001387	Joint stiffness	-	OMIM:180300
26191	PTPN22	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:85410
26191	PTPN22	HP:0001384	Abnormal hip joint morphology	HP:0040283	ORPHA:85408
26191	PTPN22	HP:0000024	Prostatitis	HP:0040283	ORPHA:900
26191	PTPN22	HP:0033834	Malaise	HP:0040282	ORPHA:397
26191	PTPN22	HP:0033834	Malaise	HP:0040281	ORPHA:536
26191	PTPN22	HP:0008850	Severe postnatal growth retardation	HP:0040283	ORPHA:85410
26191	PTPN22	HP:0008843	Hip osteoarthritis	HP:0040283	ORPHA:85408
26191	PTPN22	HP:0012085	Pyuria	HP:0040282	ORPHA:536
26191	PTPN22	HP:0031179	Nuchal rigidity	HP:0040282	ORPHA:3437
26191	PTPN22	HP:0006150	Swan neck-like deformities of the fingers	-	OMIM:180300
26191	PTPN22	HP:0033726	Lupus nephritis	700/1827	OMIM:152700
26191	PTPN22	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
26191	PTPN22	HP:0025300	Malar rash	-	OMIM:152700
26191	PTPN22	HP:0025300	Malar rash	HP:0040282	ORPHA:536
26191	PTPN22	HP:0001324	Muscle weakness	HP:0040283	ORPHA:397
26191	PTPN22	HP:0000006	Autosomal dominant inheritance	-	OMIM:152700
26191	PTPN22	HP:0002637	Cerebral ischemia	HP:0040281	ORPHA:397
26191	PTPN22	HP:0002637	Cerebral ischemia	HP:0040281	ORPHA:900
26191	PTPN22	HP:0002633	Vasculitis	HP:0040281	ORPHA:397
26191	PTPN22	HP:0002633	Vasculitis	HP:0040281	ORPHA:900
26191	PTPN22	HP:0002633	Vasculitis	-	OMIM:180300
26191	PTPN22	HP:0002647	Aortic dissection	HP:0040283	ORPHA:397
26191	PTPN22	HP:0000163	Abnormal oral cavity morphology	HP:0040281	ORPHA:900
26191	PTPN22	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
26191	PTPN22	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:85410
26191	PTPN22	HP:0410050	Decreased level of 1,5 anhydroglucitol in serum	30/30	OMIM:222100
26191	PTPN22	HP:0006252	Interphalangeal joint erosions	-	OMIM:180300
26191	PTPN22	HP:0000123	Nephritis	-	OMIM:152700
26191	PTPN22	HP:0025420	Diffuse alveolar hemorrhage	HP:0040283	ORPHA:900
26191	PTPN22	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:900
26191	PTPN22	HP:0000103	Polyuria	-	OMIM:222100
26191	PTPN22	HP:0001433	Hepatosplenomegaly	HP:0040284	ORPHA:85408
26191	PTPN22	HP:0031246	Nonproductive cough	HP:0040283	ORPHA:397
26191	PTPN22	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:85408
26191	PTPN22	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
26191	PTPN22	HP:0002725	Systemic lupus erythematosus	-	OMIM:152700
26191	PTPN22	HP:0002018	Nausea	HP:0040283	ORPHA:3437
26191	PTPN22	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:900
26191	PTPN22	HP:0002027	Abdominal pain	HP:0040283	ORPHA:397
26191	PTPN22	HP:0002027	Abdominal pain	HP:0040282	ORPHA:900
26191	PTPN22	HP:0040313	Oligoarthritis	HP:0040283	ORPHA:85408
26191	PTPN22	HP:0040313	Oligoarthritis	HP:0040281	ORPHA:85410
26191	PTPN22	HP:0003326	Myalgia	HP:0040283	ORPHA:397
26191	PTPN22	HP:0003326	Myalgia	HP:0040283	ORPHA:85408
26191	PTPN22	HP:0003326	Myalgia	HP:0040283	ORPHA:900
26191	PTPN22	HP:0003319	Abnormality of the cervical spine	HP:0040283	ORPHA:85408
26191	PTPN22	HP:0100532	Scleritis	HP:0040282	ORPHA:900
26191	PTPN22	HP:0100533	Inflammatory abnormality of the eye	HP:0040282	ORPHA:900
26191	PTPN22	HP:0100539	Periorbital edema	HP:0040282	ORPHA:900
26191	PTPN22	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:3437
26191	PTPN22	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:900
26191	PTPN22	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:900
26191	PTPN22	HP:0002072	Chorea	HP:0040284	ORPHA:536
26191	PTPN22	HP:0030953	Conjunctival hyperemia	HP:0040282	ORPHA:3437
26191	PTPN22	HP:0002039	Anorexia	HP:0040281	ORPHA:397
26191	PTPN22	HP:0002039	Anorexia	HP:0040281	ORPHA:536
26191	PTPN22	HP:0033123	Elevated circulating osteopontin level	HP:0040282	ORPHA:397
26191	PTPN22	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:397
26191	PTPN22	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
26191	PTPN22	HP:0002102	Pleuritis	-	OMIM:152700
26191	PTPN22	HP:0002102	Pleuritis	HP:0040283	ORPHA:900
26191	PTPN22	HP:0002103	Abnormal pleura morphology	HP:0040283	ORPHA:397
26191	PTPN22	HP:0002113	Pulmonary infiltrates	HP:0040281	ORPHA:900
26191	PTPN22	HP:0002105	Hemoptysis	HP:0040282	ORPHA:900
26191	PTPN22	HP:0011911	Abnormal metacarpophalangeal joint morphology	HP:0040283	ORPHA:85408
26191	PTPN22	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:85410
26191	PTPN22	HP:0003493	Antinuclear antibody positivity	HP:0040283	ORPHA:85408
26191	PTPN22	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
26191	PTPN22	HP:0003493	Antinuclear antibody positivity	-	OMIM:152700
26191	PTPN22	HP:0011899	Hyperfibrinogenemia	HP:0040282	ORPHA:397
26191	PTPN22	HP:0003401	Paresthesia	HP:0040283	ORPHA:397
26191	PTPN22	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:900
26191	PTPN22	HP:0002216	Premature graying of hair	HP:0040281	ORPHA:3437
26191	PTPN22	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:397
26191	PTPN22	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:85410
26191	PTPN22	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:85408
26191	PTPN22	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:900
26191	PTPN22	HP:0003565	Elevated erythrocyte sedimentation rate	-	OMIM:180300
26191	PTPN22	HP:0002202	Pleural effusion	HP:0040283	ORPHA:900
26191	PTPN22	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:3437
26191	PTPN22	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:900
26191	PTPN22	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:900
26191	PTPN22	HP:0100769	Synovitis	HP:0040282	ORPHA:85408
26191	PTPN22	HP:0100776	Recurrent pharyngitis	HP:0040283	ORPHA:397
26191	PTPN22	HP:0100721	Mediastinal lymphadenopathy	HP:0040283	ORPHA:397
26191	PTPN22	HP:0100749	Chest pain	HP:0040282	ORPHA:900
26191	PTPN22	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
26191	PTPN22	HP:0002290	Poliosis	HP:0040281	ORPHA:3437
26191	PTPN22	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
26191	PTPN22	HP:0100758	Gangrene	HP:0040283	ORPHA:397
26191	PTPN22	HP:0100758	Gangrene	HP:0040283	ORPHA:900
26191	PTPN22	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:3437
26191	PTPN22	HP:0002381	Aphasia	HP:0040283	ORPHA:3437
26191	PTPN22	HP:0002367	Visual hallucination	HP:0040283	ORPHA:397
26191	PTPN22	HP:0001045	Vitiligo	HP:0040281	ORPHA:3437
26191	PTPN22	HP:0002321	Vertigo	HP:0040283	ORPHA:397
26191	PTPN22	HP:0002321	Vertigo	HP:0040283	ORPHA:3437
26191	PTPN22	HP:0002315	Headache	HP:0040281	ORPHA:397
26191	PTPN22	HP:0002315	Headache	HP:0040283	ORPHA:900
26191	PTPN22	HP:0002315	Headache	HP:0040281	ORPHA:3437
26191	PTPN22	HP:0200034	Papule	HP:0040282	ORPHA:900
26191	PTPN22	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
26191	PTPN22	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:397
26191	PTPN22	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:900
26191	PTPN22	HP:0001094	Iridocyclitis	HP:0040282	ORPHA:3437
26191	PTPN22	HP:0001094	Iridocyclitis	HP:0040284	ORPHA:85408
26191	PTPN22	HP:0200042	Skin ulcer	HP:0040283	ORPHA:397
26191	PTPN22	HP:0200042	Skin ulcer	HP:0040283	ORPHA:900
26191	PTPN22	HP:0020120	Retinal nerve fiber edema	HP:0040282	ORPHA:3437
26191	PTPN22	HP:0100686	Enthesitis	HP:0040282	ORPHA:85408
26191	PTPN22	HP:0010754	Abnormality of the temporomandibular joint	HP:0040283	ORPHA:85408
26191	PTPN22	HP:0002301	Hemiplegia	HP:0040283	ORPHA:900
26191	PTPN22	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:900
26191	PTPN22	HP:0003613	Antiphospholipid antibody positivity	-	OMIM:152700
26191	PTPN22	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
26191	PTPN22	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:900
26191	PTPN22	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
26191	PTPN22	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
26191	PTPN22	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
26191	PTPN22	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
26191	PTPN22	HP:0000639	Nystagmus	HP:0040283	ORPHA:397
26191	PTPN22	HP:0000651	Diplopia	HP:0040283	ORPHA:397
26191	PTPN22	HP:0000648	Optic atrophy	HP:0040283	ORPHA:397
26191	PTPN22	HP:0000613	Photophobia	HP:0040283	ORPHA:3437
26191	PTPN22	HP:0001945	Fever	HP:0040281	ORPHA:397
26191	PTPN22	HP:0001945	Fever	-	OMIM:180300
26191	PTPN22	HP:0001945	Fever	HP:0040281	ORPHA:536
26191	PTPN22	HP:0001945	Fever	HP:0040281	ORPHA:900
26191	PTPN22	HP:0001945	Fever	HP:0040283	ORPHA:3437
26191	PTPN22	HP:0001959	Polydipsia	-	OMIM:222100
26191	PTPN22	HP:0000622	Blurred vision	HP:0040282	ORPHA:3437
26191	PTPN22	HP:0001903	Anemia	HP:0040282	ORPHA:397
26191	PTPN22	HP:0001903	Anemia	HP:0040283	ORPHA:85408
26191	PTPN22	HP:0001993	Ketoacidosis	-	OMIM:222100
26191	PTPN22	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:900
26191	PTPN22	HP:0004322	Short stature	HP:0040282	ORPHA:3437
26191	PTPN22	HP:0003074	Hyperglycemia	-	OMIM:222100
26191	PTPN22	HP:0003028	Abnormality of the ankle	HP:0040282	ORPHA:85410
26191	PTPN22	HP:0003043	Abnormal shoulder morphology	HP:0040283	ORPHA:85408
26191	PTPN22	HP:0003019	Abnormality of the wrist	HP:0040282	ORPHA:85408
26191	PTPN22	HP:0012735	Cough	HP:0040283	ORPHA:397
26191	PTPN22	HP:0012735	Cough	HP:0040282	ORPHA:900
26191	PTPN22	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:900
26191	PTPN22	HP:0000716	Depression	HP:0040282	ORPHA:397
26191	PTPN22	HP:0000716	Depression	HP:0040283	ORPHA:536
26191	PTPN22	HP:0034104	Anti-neutrophil elastase antibody positivity	HP:0040282	ORPHA:900
26191	PTPN22	HP:0000709	Psychosis	-	OMIM:152700
26191	PTPN22	HP:0011484	Posterior synechiae of the anterior chamber	HP:0040283	ORPHA:3437
26191	PTPN22	HP:0000790	Hematuria	HP:0040283	ORPHA:397
26191	PTPN22	HP:0000790	Hematuria	HP:0040282	ORPHA:536
26191	PTPN22	HP:0000790	Hematuria	HP:0040281	ORPHA:900
26191	PTPN22	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:397
26191	PTPN22	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:397
26191	PTPN22	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:900
26191	PTPN22	HP:0005764	Polyarticular arthritis	-	OMIM:180300
26191	PTPN22	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
26191	PTPN22	HP:0030783	Increased circulating interleukin 6 concentration	HP:0040282	ORPHA:397
26191	PTPN22	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:397
26191	PTPN22	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:900
26191	PTPN22	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040282	ORPHA:900
26191	PTPN22	HP:0000819	Diabetes mellitus	-	OMIM:222100
26191	PTPN22	HP:0000822	Hypertension	HP:0040282	ORPHA:536
26191	PTPN22	HP:0000822	Hypertension	HP:0040283	ORPHA:900
26191	PTPN22	HP:0040030	Chorioretinal hypopigmentation	HP:0040282	ORPHA:3437
26191	PTPN22	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
26191	PTPN22	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
26191	PTPN22	HP:0045073	Serositis	HP:0040283	ORPHA:536
26191	PTPN22	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	HP:0040283	ORPHA:397
26191	PTPN22	HP:0000979	Purpura	HP:0040283	ORPHA:900
26191	PTPN22	HP:0000975	Hyperhidrosis	HP:0040283	ORPHA:397
26191	PTPN22	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
26191	PTPN22	HP:0000992	Cutaneous photosensitivity	-	OMIM:152700
26191	PTPN22	HP:0000988	Skin rash	HP:0040282	ORPHA:900
26191	PTPN22	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
26191	PTPN22	HP:0033034	Anti-citrullinated protein antibody positivity	-	OMIM:180300
26191	PTPN22	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
26191	PTPN22	HP:0011675	Arrhythmia	HP:0040283	ORPHA:397
26191	PTPN22	HP:0011675	Arrhythmia	HP:0040283	ORPHA:900
26191	PTPN22	HP:0012276	Digital flexor tenosynovitis	-	OMIM:180300
26191	PTPN22	HP:0001596	Alopecia	HP:0040282	ORPHA:397
26191	PTPN22	HP:0001596	Alopecia	HP:0040283	ORPHA:3437
26191	PTPN22	HP:0001596	Alopecia	HP:0040282	ORPHA:536
26191	PTPN22	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:397
26191	PTPN22	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:3437
26191	PTPN22	HP:0002829	Arthralgia	HP:0040283	ORPHA:397
26191	PTPN22	HP:0002829	Arthralgia	HP:0040282	ORPHA:85408
26191	PTPN22	HP:0002829	Arthralgia	HP:0040281	ORPHA:900
26191	PTPN22	HP:0002829	Arthralgia	-	OMIM:180300
26191	PTPN22	HP:0005086	Knee osteoarthritis	HP:0040282	ORPHA:85408
26191	PTPN22	HP:0005086	Knee osteoarthritis	HP:0040282	ORPHA:85410
26191	PTPN22	HP:0012229	CSF pleocytosis	HP:0040281	ORPHA:3437
26191	PTPN22	HP:0000246	Sinusitis	HP:0040281	ORPHA:900
26191	PTPN22	HP:0001530	Mild postnatal growth retardation	HP:0040283	ORPHA:85408
26191	PTPN22	HP:0000206	Glossitis	HP:0040283	ORPHA:397
26191	PTPN22	HP:0001508	Failure to thrive	HP:0040282	ORPHA:85410
26191	PTPN22	HP:0006510	Chronic pulmonary obstruction	HP:0040282	ORPHA:900
26191	PTPN22	HP:0007833	Anterior chamber synechiae	HP:0040283	ORPHA:85410
26191	PTPN22	HP:0012378	Fatigue	HP:0040281	ORPHA:397
26191	PTPN22	HP:0012378	Fatigue	HP:0040281	ORPHA:900
26191	PTPN22	HP:0012378	Fatigue	-	OMIM:180300
26191	PTPN22	HP:0012378	Fatigue	HP:0040281	ORPHA:536
26191	PTPN22	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:900
26191	PTPN22	HP:0000388	Otitis media	HP:0040281	ORPHA:900
26191	PTPN22	HP:0005244	Gastrointestinal infarctions	HP:0040283	ORPHA:397
26191	PTPN22	HP:0005216	Impaired mastication	HP:0040281	ORPHA:397
26191	PTPN22	HP:0005214	Intestinal obstruction	HP:0040283	ORPHA:900
26191	PTPN22	HP:0006535	Recurrent intrapulmonary hemorrhage	HP:0040282	ORPHA:900
26191	PTPN22	HP:0001607	Subglottic stenosis	HP:0040283	ORPHA:900
26191	PTPN22	HP:0002923	Rheumatoid factor positive	-	OMIM:180300
26191	PTPN22	HP:0005186	Synovial lining hyperplasia	HP:0040282	ORPHA:85408
26191	PTPN22	HP:0000365	Hearing impairment	HP:0040283	ORPHA:397
26191	PTPN22	HP:0000360	Tinnitus	HP:0040282	ORPHA:3437
26191	PTPN22	HP:0000366	Abnormality of the nose	HP:0040281	ORPHA:900
26191	PTPN22	HP:0001681	Angina pectoris	HP:0040283	ORPHA:900
26191	PTPN22	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:397
26191	PTPN22	HP:0002960	Autoimmunity	HP:0040282	ORPHA:85410
26191	PTPN22	HP:0002960	Autoimmunity	HP:0040281	ORPHA:900
26191	PTPN22	HP:0002960	Autoimmunity	-	OMIM:222100
26191	PTPN22	HP:0030164	Jaw claudication	HP:0040282	ORPHA:397
26191	PTPN22	HP:0002955	Granulomatosis	HP:0040281	ORPHA:900
26191	PTPN22	HP:0007906	Ocular hypertension	HP:0040282	ORPHA:3437
26191	PTPN22	HP:0000499	Abnormal eyelash morphology	HP:0040281	ORPHA:3437
26191	PTPN22	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:3437
26191	PTPN22	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:900
26191	PTPN22	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:397
26191	PTPN22	HP:0001733	Pancreatitis	HP:0040283	ORPHA:900
26191	PTPN22	HP:0001701	Pericarditis	HP:0040283	ORPHA:397
26191	PTPN22	HP:0001701	Pericarditis	HP:0040283	ORPHA:900
26191	PTPN22	HP:0001701	Pericarditis	-	OMIM:152700
26191	PTPN22	HP:0000491	Keratitis	HP:0040283	ORPHA:900
26191	PTPN22	HP:0011134	Low-grade fever	HP:0040283	ORPHA:85408
26191	PTPN22	HP:0000488	Retinopathy	HP:0040283	ORPHA:900
26191	PTPN22	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
26191	PTPN22	HP:0011117	Abnormal circulating interleukin concentration	HP:0040282	ORPHA:85410
26191	PTPN22	HP:0001785	Ankle swelling	HP:0040282	ORPHA:85408
26191	PTPN22	HP:0000421	Epistaxis	HP:0040283	ORPHA:397
26191	PTPN22	HP:0000421	Epistaxis	HP:0040281	ORPHA:900
26191	PTPN22	HP:0005413	Increased alpha-globulin	HP:0040282	ORPHA:397
26191	PTPN22	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
26191	PTPN22	HP:0000518	Cataract	HP:0040284	ORPHA:85410
26191	PTPN22	HP:0000518	Cataract	HP:0040282	ORPHA:3437
26191	PTPN22	HP:0000520	Proptosis	HP:0040283	ORPHA:900
26191	PTPN22	HP:0001824	Weight loss	HP:0040281	ORPHA:397
26191	PTPN22	HP:0001824	Weight loss	HP:0040283	ORPHA:85408
26191	PTPN22	HP:0001824	Weight loss	HP:0040281	ORPHA:900
26191	PTPN22	HP:0001824	Weight loss	-	OMIM:180300
26191	PTPN22	HP:0001824	Weight loss	HP:0040281	ORPHA:536
26191	PTPN22	HP:0000508	Ptosis	HP:0040283	ORPHA:397
26191	PTPN22	HP:0000505	Visual impairment	HP:0040282	ORPHA:397
26191	PTPN22	HP:0000505	Visual impairment	HP:0040283	ORPHA:900
26191	PTPN22	HP:0000505	Visual impairment	HP:0040282	ORPHA:3437
26191	PTPN22	HP:0001832	Abnormal metatarsal morphology	HP:0040283	ORPHA:85408
26191	PTPN22	HP:0000501	Glaucoma	HP:0040284	ORPHA:85410
26191	PTPN22	HP:0000501	Glaucoma	HP:0040283	ORPHA:3437
26191	PTPN22	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:397
26191	PTPN22	HP:0000585	Band keratopathy	HP:0040283	ORPHA:85410
26191	PTPN22	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040282	ORPHA:85410
26191	PTPN22	HP:0000579	Nasolacrimal duct obstruction	HP:0040282	ORPHA:900
26191	PTPN22	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040281	ORPHA:397
26191	PTPN22	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:900
26191	PTPN22	HP:0011227	Elevated circulating C-reactive protein concentration	-	OMIM:180300
26191	PTPN22	HP:0000554	Uveitis	HP:0040282	ORPHA:85410
26191	PTPN22	HP:0000554	Uveitis	HP:0040283	ORPHA:85408
26191	PTPN22	HP:0000554	Uveitis	HP:0040282	ORPHA:3437
26191	PTPN22	HP:0000572	Visual loss	HP:0040283	ORPHA:397
26191	PTPN22	HP:0000572	Visual loss	HP:0040283	ORPHA:85410
26191	PTPN22	HP:0001872	Abnormality of thrombocytes	HP:0040283	ORPHA:397
26191	PTPN22	HP:0000541	Retinal detachment	HP:0040282	ORPHA:3437
26191	PTPN22	HP:0000534	Abnormal eyebrow morphology	HP:0040281	ORPHA:3437
26191	PTPN22	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
26191	PTPN22	HP:0001882	Decreased total leukocyte count	-	OMIM:152700
26191	PTPN22	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
26191	PTPN22	HP:0001878	Hemolytic anemia	-	OMIM:152700
26191	PTPN22	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
26191	PTPN22	HP:0001873	Thrombocytopenia	-	OMIM:152700
26224	FBXL3	HP:0002465	Poor speech	-	OMIM:606220
26224	FBXL3	HP:0001249	Intellectual disability	8/8	OMIM:606220
26224	FBXL3	HP:0001260	Dysarthria	6/8	OMIM:606220
26224	FBXL3	HP:0001263	Global developmental delay	8/8	OMIM:606220
26224	FBXL3	HP:0001373	Joint dislocation	2/8	OMIM:606220
26224	FBXL3	HP:0001382	Joint hypermobility	2/8	OMIM:606220
26224	FBXL3	HP:0000007	Autosomal recessive inheritance	-	OMIM:606220
26224	FBXL3	HP:0003593	Infantile onset	-	OMIM:606220
26224	FBXL3	HP:0010044	Short 4th metacarpal	2/2	OMIM:606220
26224	FBXL3	HP:0004322	Short stature	2/8	OMIM:606220
26224	FBXL3	HP:0006979	Sleep-wake cycle disturbance	1/8	OMIM:606220
26224	FBXL3	HP:0031936	Delayed ability to walk	8/8	OMIM:606220
26224	FBXL3	HP:0000750	Delayed speech and language development	2/8	OMIM:606220
26224	FBXL3	HP:0000718	Aggressive behavior	1/8	OMIM:606220
26224	FBXL3	HP:0000894	Short clavicles	2/2	OMIM:606220
26224	FBXL3	HP:0000252	Microcephaly	1/6	OMIM:606220
26224	FBXL3	HP:0000218	High palate	2/8	OMIM:606220
26224	FBXL3	HP:0000308	Microretrognathia	5/8	OMIM:606220
26224	FBXL3	HP:0000486	Strabismus	2/8	OMIM:606220
26224	FBXL3	HP:0000448	Prominent nose	8/8	OMIM:606220
26224	FBXL3	HP:0000414	Bulbous nose	8/8	OMIM:606220
26224	FBXL3	HP:0000431	Wide nasal bridge	2/8	OMIM:606220
26224	FBXL3	HP:0000508	Ptosis	2/8	OMIM:606220
26227	PHGDH	HP:0001181	Adducted thumb	-	OMIM:601815
26227	PHGDH	HP:0001181	Adducted thumb	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0001196	Short umbilical cord	-	OMIM:256520
26227	PHGDH	HP:0007281	Developmental stagnation	HP:0040282	ORPHA:79351
26227	PHGDH	HP:0007266	Cerebral dysmyelination	-	OMIM:601815
26227	PHGDH	HP:0002414	Spina bifida	-	OMIM:256520
26227	PHGDH	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
26227	PHGDH	HP:0001293	Cranial nerve compression	-	OMIM:131300
26227	PHGDH	HP:0100807	Long fingers	1/3	OMIM:256520
26227	PHGDH	HP:0001276	Hypertonia	-	OMIM:601815
26227	PHGDH	HP:0001276	Hypertonia	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0001274	Agenesis of corpus callosum	-	OMIM:256520
26227	PHGDH	HP:0001250	Seizure	-	OMIM:601815
26227	PHGDH	HP:0001252	Hypotonia	2/7	OMIM:615777
26227	PHGDH	HP:0001249	Intellectual disability	-	OMIM:601815
26227	PHGDH	HP:0001249	Intellectual disability	5/7	OMIM:615777
26227	PHGDH	HP:0001263	Global developmental delay	-	OMIM:615777
26227	PHGDH	HP:0001257	Spasticity	HP:0040282	ORPHA:79351
26227	PHGDH	HP:0007430	Generalized edema	2/3	OMIM:256520
26227	PHGDH	HP:0006101	Finger syndactyly	-	OMIM:256520
26227	PHGDH	HP:0008734	Decreased testicular size	-	OMIM:601815
26227	PHGDH	HP:0002536	Abnormal cortical gyration	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0002521	Hypsarrhythmia	-	OMIM:601815
26227	PHGDH	HP:0002515	Waddling gait	54/102	OMIM:131300
26227	PHGDH	HP:0003826	Stillbirth	-	OMIM:256520
26227	PHGDH	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0002510	Spastic tetraplegia	-	OMIM:601815
26227	PHGDH	HP:0003811	Neonatal death	1/3	OMIM:256520
26227	PHGDH	HP:0001382	Joint hypermobility	-	OMIM:615777
26227	PHGDH	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0002694	Sclerosis of skull base	-	OMIM:131300
26227	PHGDH	HP:0000028	Cryptorchidism	-	OMIM:256520
26227	PHGDH	HP:0008897	Postnatal growth retardation	-	OMIM:615777
26227	PHGDH	HP:0007525	Yellow subcutaneous tissue covered by thin, scaly skin	-	OMIM:256520
26227	PHGDH	HP:0007503	Generalized ichthyosis	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
26227	PHGDH	HP:0001324	Muscle weakness	40/96	OMIM:131300
26227	PHGDH	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
26227	PHGDH	HP:0001339	Lissencephaly	-	OMIM:256520
26227	PHGDH	HP:0000007	Autosomal recessive inheritance	-	OMIM:256520
26227	PHGDH	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
26227	PHGDH	HP:0000007	Autosomal recessive inheritance	-	OMIM:601815
26227	PHGDH	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
26227	PHGDH	HP:0001305	Dandy-Walker malformation	-	OMIM:256520
26227	PHGDH	HP:0002650	Scoliosis	12/14	OMIM:131300
26227	PHGDH	HP:0001321	Cerebellar hypoplasia	-	OMIM:256520
26227	PHGDH	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
26227	PHGDH	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
26227	PHGDH	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
26227	PHGDH	HP:0000179	Thick lower lip vermilion	-	OMIM:256520
26227	PHGDH	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
26227	PHGDH	HP:0000175	Cleft palate	1/3	OMIM:256520
26227	PHGDH	HP:0000175	Cleft palate	2/7	OMIM:615777
26227	PHGDH	HP:0000136	Bifid uterus	-	OMIM:256520
26227	PHGDH	HP:0000135	Hypogonadism	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0006266	Small placenta	-	OMIM:256520
26227	PHGDH	HP:0000104	Renal agenesis	-	OMIM:256520
26227	PHGDH	HP:0031244	Swollen lip	1/3	OMIM:256520
26227	PHGDH	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0002013	Vomiting	HP:0040282	ORPHA:79351
26227	PHGDH	HP:0002089	Pulmonary hypoplasia	-	OMIM:256520
26227	PHGDH	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0003388	Easy fatigability	36/76	OMIM:131300
26227	PHGDH	HP:0009466	Radial deviation of finger	-	OMIM:256520
26227	PHGDH	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
26227	PHGDH	HP:0009473	Joint contracture of the hand	-	OMIM:256520
26227	PHGDH	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0002119	Ventriculomegaly	1/1	OMIM:256520
26227	PHGDH	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0002190	Choroid plexus cyst	-	OMIM:256520
26227	PHGDH	HP:0003577	Congenital onset	3/3	OMIM:256520
26227	PHGDH	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0010719	Abnormality of hair texture	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0034691	Reduced 3-phosphoglycerate dehydrogenase activity	-	OMIM:601815
26227	PHGDH	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:79351
26227	PHGDH	HP:0003510	Severe short stature	7/7	OMIM:615777
26227	PHGDH	HP:0001059	Pterygium	-	OMIM:256520
26227	PHGDH	HP:0002315	Headache	-	OMIM:131300
26227	PHGDH	HP:0004976	Knee dislocation	6/7	OMIM:615777
26227	PHGDH	HP:0002324	Hydranencephaly	-	OMIM:256520
26227	PHGDH	HP:0010821	Focal emotional seizure with laughing	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0009826	Limb undergrowth	-	OMIM:256520
26227	PHGDH	HP:0010819	Atonic seizure	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0009803	Short phalanx of finger	-	OMIM:615777
26227	PHGDH	HP:0100633	Esophagitis	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0009763	Limb pain	63/92	OMIM:131300
26227	PHGDH	HP:0002305	Athetosis	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0003621	Juvenile onset	-	OMIM:131300
26227	PHGDH	HP:0006872	Cerebral hypoplasia	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
26227	PHGDH	HP:0006808	Cerebral hypomyelination	HP:0040282	ORPHA:79351
26227	PHGDH	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
26227	PHGDH	HP:0000639	Nystagmus	-	OMIM:601815
26227	PHGDH	HP:6001056	Out-toeing	-	OMIM:131300
26227	PHGDH	HP:0000651	Diplopia	-	OMIM:131300
26227	PHGDH	HP:0001956	Truncal obesity	2/7	OMIM:615777
26227	PHGDH	HP:0001903	Anemia	HP:0040283	OMIM:131300
26227	PHGDH	HP:0010049	Short metacarpal	-	OMIM:615777
26227	PHGDH	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:79351
26227	PHGDH	HP:0011343	Moderate global developmental delay	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0000678	Dental crowding	-	OMIM:615777
26227	PHGDH	HP:0001989	Fetal akinesia sequence	1/3	OMIM:256520
26227	PHGDH	HP:0000670	Carious teeth	-	OMIM:131300
26227	PHGDH	HP:0011304	Broad thumb	2/7	OMIM:615777
26227	PHGDH	HP:0000668	Hypodontia	-	OMIM:615777
26227	PHGDH	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0000664	Synophrys	-	OMIM:615777
26227	PHGDH	HP:0004322	Short stature	HP:0040282	ORPHA:79351
26227	PHGDH	HP:0004396	Poor appetite	-	OMIM:131300
26227	PHGDH	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
26227	PHGDH	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
26227	PHGDH	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
26227	PHGDH	HP:0003026	Short long bone	7/7	OMIM:615777
26227	PHGDH	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
26227	PHGDH	HP:0000767	Pectus excavatum	2/7	OMIM:615777
26227	PHGDH	HP:0000768	Pectus carinatum	1/7	OMIM:615777
26227	PHGDH	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
26227	PHGDH	HP:0000737	Irritability	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0000750	Delayed speech and language development	-	OMIM:615777
26227	PHGDH	HP:0000708	Atypical behavior	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0011461	Fetal onset	7/7	OMIM:615777
26227	PHGDH	HP:0011451	Primary microcephaly	-	OMIM:601815
26227	PHGDH	HP:0011451	Primary microcephaly	HP:0040282	ORPHA:79351
26227	PHGDH	HP:0011451	Primary microcephaly	3/3	OMIM:256520
26227	PHGDH	HP:0000774	Narrow chest	2/7	OMIM:615777
26227	PHGDH	HP:0012762	Cerebral white matter atrophy	HP:0040282	ORPHA:79351
26227	PHGDH	HP:0000926	Platyspondyly	1/7	OMIM:615777
26227	PHGDH	HP:0003180	Flat acetabular roof	-	OMIM:615777
26227	PHGDH	HP:0004482	Relative macrocephaly	-	OMIM:615777
26227	PHGDH	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
26227	PHGDH	HP:0000823	Delayed puberty	-	OMIM:131300
26227	PHGDH	HP:0000894	Short clavicles	-	OMIM:615777
26227	PHGDH	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
26227	PHGDH	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
26227	PHGDH	HP:0008064	Ichthyosis	2/3	OMIM:256520
26227	PHGDH	HP:0012279	Hyposerinemia	HP:0040281	ORPHA:79351
26227	PHGDH	HP:0000286	Epicanthus	1/7	OMIM:615777
26227	PHGDH	HP:0000280	Coarse facial features	2/7	OMIM:615777
26227	PHGDH	HP:0012277	Hypoglycinemia	HP:0040281	ORPHA:79351
26227	PHGDH	HP:0002827	Hip dislocation	3/7	OMIM:615777
26227	PHGDH	HP:0030084	Clinodactyly	-	OMIM:256520
26227	PHGDH	HP:0000252	Microcephaly	HP:0040282	ORPHA:79351
26227	PHGDH	HP:0000252	Microcephaly	-	OMIM:615777
26227	PHGDH	HP:0001561	Polyhydramnios	1/3	OMIM:256520
26227	PHGDH	HP:0001558	Decreased fetal movement	-	OMIM:256520
26227	PHGDH	HP:0002857	Genu valgum	-	OMIM:131300
26227	PHGDH	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0001533	Slender build	-	OMIM:131300
26227	PHGDH	HP:0000204	Cleft upper lip	1/3	OMIM:256520
26227	PHGDH	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79351
26227	PHGDH	HP:0001511	Intrauterine growth retardation	-	OMIM:256520
26227	PHGDH	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
26227	PHGDH	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:79351
26227	PHGDH	HP:0001510	Growth delay	-	OMIM:601815
26227	PHGDH	HP:0011097	Epileptic spasm	HP:0040282	ORPHA:79351
26227	PHGDH	HP:0007807	Optic nerve compression	-	OMIM:131300
26227	PHGDH	HP:0012385	Camptodactyly	-	OMIM:256520
26227	PHGDH	HP:0012368	Flat face	7/7	OMIM:615777
26227	PHGDH	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
26227	PHGDH	HP:0000365	Hearing impairment	10/67	OMIM:131300
26227	PHGDH	HP:0000369	Low-set ears	1/3	OMIM:256520
26227	PHGDH	HP:0000340	Sloping forehead	1/3	OMIM:256520
26227	PHGDH	HP:0000343	Long philtrum	1/7	OMIM:615777
26227	PHGDH	HP:0011001	Increased bone mineral density	-	OMIM:131300
26227	PHGDH	HP:0001669	Transposition of the great arteries	-	OMIM:256520
26227	PHGDH	HP:0000347	Micrognathia	1/3	OMIM:256520
26227	PHGDH	HP:0002983	Micromelia	-	OMIM:256520
26227	PHGDH	HP:0000316	Hypertelorism	-	OMIM:256520
26227	PHGDH	HP:0001643	Patent ductus arteriosus	-	OMIM:256520
26227	PHGDH	HP:0000311	Round face	2/7	OMIM:615777
26227	PHGDH	HP:0001655	Patent foramen ovale	-	OMIM:256520
26227	PHGDH	HP:0001629	Ventricular septal defect	-	OMIM:256520
26227	PHGDH	HP:0002970	Genu varum	-	OMIM:615777
26227	PHGDH	HP:0000303	Mandibular prognathia	-	OMIM:131300
26227	PHGDH	HP:0000400	Macrotia	-	OMIM:256520
26227	PHGDH	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
26227	PHGDH	HP:0030215	Inappropriate crying	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0012448	Delayed myelination	HP:0040282	ORPHA:79351
26227	PHGDH	HP:0012444	Brain atrophy	1/1	OMIM:256520
26227	PHGDH	HP:0000457	Depressed nasal ridge	1/3	OMIM:256520
26227	PHGDH	HP:0000475	Broad neck	1/3	OMIM:256520
26227	PHGDH	HP:0000470	Short neck	3/3	OMIM:256520
26227	PHGDH	HP:0000470	Short neck	1/7	OMIM:615777
26227	PHGDH	HP:0001770	Toe syndactyly	-	OMIM:256520
26227	PHGDH	HP:0001769	Broad foot	HP:0040283	OMIM:615777
26227	PHGDH	HP:0001763	Pes planus	1/7	OMIM:615777
26227	PHGDH	HP:0000445	Wide nose	1/3	OMIM:256520
26227	PHGDH	HP:0000518	Cataract	-	OMIM:256520
26227	PHGDH	HP:0001848	Calcaneovalgus deformity	-	OMIM:256520
26227	PHGDH	HP:0000519	Developmental cataract	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0000519	Developmental cataract	-	OMIM:601815
26227	PHGDH	HP:0001840	Metatarsus adductus	-	OMIM:615777
26227	PHGDH	HP:0000520	Proptosis	2/4	OMIM:131300
26227	PHGDH	HP:0000520	Proptosis	1/3	OMIM:256520
26227	PHGDH	HP:0000520	Proptosis	7/7	OMIM:615777
26227	PHGDH	HP:0001838	Rocker bottom foot	1/3	OMIM:256520
26227	PHGDH	HP:0000592	Blue sclerae	2/7	OMIM:615777
26227	PHGDH	HP:0011224	Ablepharon	1/3	OMIM:256520
26227	PHGDH	HP:0000561	Absent eyelashes	-	OMIM:256520
26227	PHGDH	HP:0001889	Megaloblastic anemia	-	OMIM:601815
26227	PHGDH	HP:0001889	Megaloblastic anemia	HP:0040283	ORPHA:79351
26227	PHGDH	HP:0000568	Microphthalmia	-	OMIM:256520
26227	PHGDH	HP:0000565	Esotropia	HP:0040282	ORPHA:79351
26227	PHGDH	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
26227	PHGDH	HP:0012514	Lower limb pain	4/4	OMIM:131300
26227	PHGDH	HP:0001873	Thrombocytopenia	-	OMIM:601815
26229	B3GAT3	HP:0001156	Brachydactyly	-	OMIM:143095
26229	B3GAT3	HP:0008593	Prominent antitragus	HP:0040283	OMIM:245600
26229	B3GAT3	HP:0009880	Broad distal phalanges of all fingers	-	OMIM:245600
26229	B3GAT3	HP:0009882	Short distal phalanx of finger	-	OMIM:143095
26229	B3GAT3	HP:0008551	Microtia	-	OMIM:143095
26229	B3GAT3	HP:0008551	Microtia	-	OMIM:245600
26229	B3GAT3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
26229	B3GAT3	HP:0001293	Cranial nerve compression	-	OMIM:131300
26229	B3GAT3	HP:0001290	Generalized hypotonia	6/7	OMIM:245600
26229	B3GAT3	HP:0001270	Motor delay	5/5	OMIM:245600
26229	B3GAT3	HP:0001256	Intellectual disability, mild	-	OMIM:259770
26229	B3GAT3	HP:0001252	Hypotonia	-	OMIM:245600
26229	B3GAT3	HP:0001252	Hypotonia	-	OMIM:259770
26229	B3GAT3	HP:0001252	Hypotonia	2/7	OMIM:615777
26229	B3GAT3	HP:0001249	Intellectual disability	0/9	OMIM:143095
26229	B3GAT3	HP:0001249	Intellectual disability	3/20	OMIM:150250
26229	B3GAT3	HP:0001249	Intellectual disability	5/7	OMIM:615777
26229	B3GAT3	HP:0001263	Global developmental delay	1/1	OMIM:612394
26229	B3GAT3	HP:0001263	Global developmental delay	-	OMIM:615777
26229	B3GAT3	HP:0100864	Short femoral neck	-	OMIM:143095
26229	B3GAT3	HP:0006067	Multiple carpal ossification centers	-	OMIM:143095
26229	B3GAT3	HP:0006067	Multiple carpal ossification centers	-	OMIM:150250
26229	B3GAT3	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:143095
26229	B3GAT3	HP:0003883	Tapered humerus	3/16	OMIM:150250
26229	B3GAT3	HP:0001222	Spatulate thumbs	-	OMIM:245600
26229	B3GAT3	HP:0001222	Spatulate thumbs	17/18	OMIM:150250
26229	B3GAT3	HP:0002515	Waddling gait	54/102	OMIM:131300
26229	B3GAT3	HP:0002515	Waddling gait	-	OMIM:143095
26229	B3GAT3	HP:0003834	Shoulder dislocation	-	OMIM:143095
26229	B3GAT3	HP:0003834	Shoulder dislocation	HP:0040283	OMIM:245600
26229	B3GAT3	HP:0006099	Metacarpophalangeal joint hyperextensibility	HP:0040283	OMIM:245600
26229	B3GAT3	HP:0001371	Flexion contracture	-	OMIM:143095
26229	B3GAT3	HP:0001373	Joint dislocation	-	OMIM:143095
26229	B3GAT3	HP:0001382	Joint hypermobility	-	OMIM:259770
26229	B3GAT3	HP:0001382	Joint hypermobility	-	OMIM:150250
26229	B3GAT3	HP:0001382	Joint hypermobility	-	OMIM:615777
26229	B3GAT3	HP:0001382	Joint hypermobility	10/18	OMIM:245600
26229	B3GAT3	HP:0000023	Inguinal hernia	HP:0040283	OMIM:245600
26229	B3GAT3	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
26229	B3GAT3	HP:0001363	Craniosynostosis	7/10	OMIM:245600
26229	B3GAT3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
26229	B3GAT3	HP:0000028	Cryptorchidism	-	OMIM:150250
26229	B3GAT3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
26229	B3GAT3	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
26229	B3GAT3	HP:0012095	Multiple joint dislocation	20/24	OMIM:245600
26229	B3GAT3	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
26229	B3GAT3	HP:0003994	Dislocated wrist	-	OMIM:150250
26229	B3GAT3	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
26229	B3GAT3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
26229	B3GAT3	HP:0001324	Muscle weakness	40/96	OMIM:131300
26229	B3GAT3	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:143095
26229	B3GAT3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
26229	B3GAT3	HP:0000007	Autosomal recessive inheritance	-	OMIM:245600
26229	B3GAT3	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
26229	B3GAT3	HP:0000007	Autosomal recessive inheritance	-	OMIM:143095
26229	B3GAT3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
26229	B3GAT3	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
26229	B3GAT3	HP:0000006	Autosomal dominant inheritance	-	OMIM:150250
26229	B3GAT3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
26229	B3GAT3	HP:0002650	Scoliosis	1/5	OMIM:259770
26229	B3GAT3	HP:0002650	Scoliosis	1/1	OMIM:612394
26229	B3GAT3	HP:0002650	Scoliosis	9/9	OMIM:143095
26229	B3GAT3	HP:0002650	Scoliosis	12/14	OMIM:131300
26229	B3GAT3	HP:0002650	Scoliosis	12/20	OMIM:150250
26229	B3GAT3	HP:0002650	Scoliosis	-	OMIM:245600
26229	B3GAT3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
26229	B3GAT3	HP:0002616	Aortic root aneurysm	-	OMIM:245600
26229	B3GAT3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
26229	B3GAT3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
26229	B3GAT3	HP:0008905	Rhizomelia	-	OMIM:143095
26229	B3GAT3	HP:0008905	Rhizomelia	HP:0040283	OMIM:245600
26229	B3GAT3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
26229	B3GAT3	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
26229	B3GAT3	HP:0000160	Narrow mouth	10/19	OMIM:245600
26229	B3GAT3	HP:0000175	Cleft palate	3/20	OMIM:150250
26229	B3GAT3	HP:0000175	Cleft palate	2/7	OMIM:615777
26229	B3GAT3	HP:0000175	Cleft palate	-	OMIM:245600
26229	B3GAT3	HP:0005021	Bilateral elbow dislocations	-	OMIM:245600
26229	B3GAT3	HP:0007598	Bilateral single transverse palmar creases	-	OMIM:143095
26229	B3GAT3	HP:0002780	Bronchomalacia	-	OMIM:150250
26229	B3GAT3	HP:0002779	Tracheomalacia	-	OMIM:150250
26229	B3GAT3	HP:0002777	Tracheal stenosis	-	OMIM:150250
26229	B3GAT3	HP:0002757	Recurrent fractures	4/5	OMIM:259770
26229	B3GAT3	HP:0002757	Recurrent fractures	8/17	OMIM:245600
26229	B3GAT3	HP:0002756	Pathologic fracture	-	OMIM:259770
26229	B3GAT3	HP:0002756	Pathologic fracture	1/1	OMIM:612394
26229	B3GAT3	HP:0002751	Kyphoscoliosis	-	OMIM:143095
26229	B3GAT3	HP:0002751	Kyphoscoliosis	-	OMIM:259770
26229	B3GAT3	HP:0002750	Delayed skeletal maturation	-	OMIM:143095
26229	B3GAT3	HP:0002750	Delayed skeletal maturation	HP:0040283	OMIM:245600
26229	B3GAT3	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
26229	B3GAT3	HP:0002007	Frontal bossing	-	OMIM:150250
26229	B3GAT3	HP:0002007	Frontal bossing	6/16	OMIM:245600
26229	B3GAT3	HP:0003304	Spondylolysis	-	OMIM:150250
26229	B3GAT3	HP:0003301	Irregular vertebral endplates	-	OMIM:143095
26229	B3GAT3	HP:0011800	Midface retrusion	19/20	OMIM:150250
26229	B3GAT3	HP:0011800	Midface retrusion	19/19	OMIM:245600
26229	B3GAT3	HP:0002092	Pulmonary arterial hypertension	-	OMIM:143095
26229	B3GAT3	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
26229	B3GAT3	HP:0003388	Easy fatigability	36/76	OMIM:131300
26229	B3GAT3	HP:0010446	Tricuspid stenosis	-	OMIM:143095
26229	B3GAT3	HP:0008127	Bipartite calcaneus	-	OMIM:150250
26229	B3GAT3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
26229	B3GAT3	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
26229	B3GAT3	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
26229	B3GAT3	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
26229	B3GAT3	HP:0003417	Coronal cleft vertebrae	-	OMIM:143095
26229	B3GAT3	HP:0002194	Delayed gross motor development	-	OMIM:143095
26229	B3GAT3	HP:0002164	Nail dysplasia	1/1	OMIM:612394
26229	B3GAT3	HP:0002162	Low posterior hairline	-	OMIM:245600
26229	B3GAT3	HP:0002176	Spinal cord compression	-	OMIM:150250
26229	B3GAT3	HP:0100490	Camptodactyly of finger	-	OMIM:143095
26229	B3GAT3	HP:0010557	Overlapping fingers	1/2	OMIM:612394
26229	B3GAT3	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
26229	B3GAT3	HP:0010585	Small epiphyses	9/9	OMIM:143095
26229	B3GAT3	HP:0003593	Infantile onset	1/5	OMIM:259770
26229	B3GAT3	HP:0003593	Infantile onset	9/9	OMIM:143095
26229	B3GAT3	HP:0003577	Congenital onset	4/5	OMIM:259770
26229	B3GAT3	HP:0003577	Congenital onset	6/6	OMIM:143095
26229	B3GAT3	HP:0002208	Coarse hair	1/1	OMIM:612394
26229	B3GAT3	HP:0003510	Severe short stature	7/7	OMIM:615777
26229	B3GAT3	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
26229	B3GAT3	HP:0025019	Arterial rupture	1/1	OMIM:612394
26229	B3GAT3	HP:0002315	Headache	-	OMIM:131300
26229	B3GAT3	HP:0004976	Knee dislocation	-	OMIM:245600
26229	B3GAT3	HP:0004976	Knee dislocation	16/20	OMIM:150250
26229	B3GAT3	HP:0004976	Knee dislocation	6/6	OMIM:143095
26229	B3GAT3	HP:0004976	Knee dislocation	6/7	OMIM:615777
26229	B3GAT3	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
26229	B3GAT3	HP:0001090	Abnormally large globe	-	OMIM:245600
26229	B3GAT3	HP:0009803	Short phalanx of finger	-	OMIM:143095
26229	B3GAT3	HP:0009803	Short phalanx of finger	-	OMIM:615777
26229	B3GAT3	HP:0001089	Iris atrophy	-	OMIM:259770
26229	B3GAT3	HP:0001087	Developmental glaucoma	-	OMIM:245600
26229	B3GAT3	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:143095
26229	B3GAT3	HP:0010743	Short metatarsal	-	OMIM:150250
26229	B3GAT3	HP:0009763	Limb pain	63/92	OMIM:131300
26229	B3GAT3	HP:0008434	Hypoplastic cervical vertebrae	-	OMIM:150250
26229	B3GAT3	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
26229	B3GAT3	HP:0003621	Juvenile onset	-	OMIM:131300
26229	B3GAT3	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
26229	B3GAT3	HP:0004942	Aortic aneurysm	-	OMIM:150250
26229	B3GAT3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
26229	B3GAT3	HP:0004298	Abnormality of the abdominal wall	-	OMIM:245600
26229	B3GAT3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
26229	B3GAT3	HP:0004232	Accessory carpal bones	-	OMIM:150250
26229	B3GAT3	HP:6001056	Out-toeing	-	OMIM:131300
26229	B3GAT3	HP:0000651	Diplopia	-	OMIM:131300
26229	B3GAT3	HP:0000646	Amblyopia	-	OMIM:245600
26229	B3GAT3	HP:0000618	Blindness	5/5	OMIM:259770
26229	B3GAT3	HP:0001956	Truncal obesity	2/7	OMIM:615777
26229	B3GAT3	HP:0001903	Anemia	HP:0040283	OMIM:131300
26229	B3GAT3	HP:0010049	Short metacarpal	-	OMIM:143095
26229	B3GAT3	HP:0010049	Short metacarpal	-	OMIM:615777
26229	B3GAT3	HP:0010049	Short metacarpal	-	OMIM:150250
26229	B3GAT3	HP:0000684	Delayed eruption of teeth	-	OMIM:143095
26229	B3GAT3	HP:0000678	Dental crowding	-	OMIM:615777
26229	B3GAT3	HP:0000691	Microdontia	-	OMIM:143095
26229	B3GAT3	HP:0000691	Microdontia	-	OMIM:245600
26229	B3GAT3	HP:0000687	Widely spaced teeth	-	OMIM:143095
26229	B3GAT3	HP:0000670	Carious teeth	-	OMIM:131300
26229	B3GAT3	HP:0011304	Broad thumb	2/7	OMIM:615777
26229	B3GAT3	HP:0000668	Hypodontia	-	OMIM:615777
26229	B3GAT3	HP:0000668	Hypodontia	-	OMIM:150250
26229	B3GAT3	HP:0000667	Phthisis bulbi	-	OMIM:259770
26229	B3GAT3	HP:0000664	Synophrys	-	OMIM:615777
26229	B3GAT3	HP:0004322	Short stature	18/22	OMIM:245600
26229	B3GAT3	HP:0004322	Short stature	-	OMIM:259770
26229	B3GAT3	HP:0004322	Short stature	15/15	OMIM:143095
26229	B3GAT3	HP:0004322	Short stature	14/20	OMIM:150250
26229	B3GAT3	HP:0005616	Accelerated skeletal maturation	-	OMIM:245600
26229	B3GAT3	HP:0003071	Flattened epiphysis	-	OMIM:143095
26229	B3GAT3	HP:0003083	Dislocated radial head	6/6	OMIM:143095
26229	B3GAT3	HP:0003083	Dislocated radial head	3/5	OMIM:245600
26229	B3GAT3	HP:0003051	Enlarged metaphyses	-	OMIM:245600
26229	B3GAT3	HP:0004396	Poor appetite	-	OMIM:131300
26229	B3GAT3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
26229	B3GAT3	HP:0003031	Ulnar bowing	-	OMIM:143095
26229	B3GAT3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
26229	B3GAT3	HP:0003042	Elbow dislocation	-	OMIM:143095
26229	B3GAT3	HP:0003042	Elbow dislocation	13/20	OMIM:150250
26229	B3GAT3	HP:0003040	Arthropathy	-	OMIM:143095
26229	B3GAT3	HP:0003015	Flared metaphysis	3/5	OMIM:245600
26229	B3GAT3	HP:0003016	Metaphyseal widening	-	OMIM:259770
26229	B3GAT3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
26229	B3GAT3	HP:0003026	Short long bone	7/7	OMIM:615777
26229	B3GAT3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
26229	B3GAT3	HP:0003022	Hypoplasia of the ulna	-	OMIM:143095
26229	B3GAT3	HP:0000767	Pectus excavatum	-	OMIM:150250
26229	B3GAT3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
26229	B3GAT3	HP:0000768	Pectus carinatum	-	OMIM:150250
26229	B3GAT3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
26229	B3GAT3	HP:0000768	Pectus carinatum	HP:0040283	OMIM:245600
26229	B3GAT3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
26229	B3GAT3	HP:0000750	Delayed speech and language development	-	OMIM:615777
26229	B3GAT3	HP:0009179	Deviation of the 5th finger	-	OMIM:143095
26229	B3GAT3	HP:0011461	Fetal onset	7/7	OMIM:615777
26229	B3GAT3	HP:0011461	Fetal onset	2/2	OMIM:612394
26229	B3GAT3	HP:0000774	Narrow chest	2/7	OMIM:615777
26229	B3GAT3	HP:0000774	Narrow chest	-	OMIM:245600
26229	B3GAT3	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	OMIM:245600
26229	B3GAT3	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
26229	B3GAT3	HP:0003196	Short nose	1/1	OMIM:612394
26229	B3GAT3	HP:0000914	Shield chest	-	OMIM:143095
26229	B3GAT3	HP:0000926	Platyspondyly	-	OMIM:259770
26229	B3GAT3	HP:0000926	Platyspondyly	1/7	OMIM:615777
26229	B3GAT3	HP:0000926	Platyspondyly	1/1	OMIM:612394
26229	B3GAT3	HP:0000926	Platyspondyly	1/19	OMIM:245600
26229	B3GAT3	HP:0003184	Decreased hip abduction	-	OMIM:143095
26229	B3GAT3	HP:0003180	Flat acetabular roof	-	OMIM:615777
26229	B3GAT3	HP:0004482	Relative macrocephaly	-	OMIM:615777
26229	B3GAT3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
26229	B3GAT3	HP:0000878	11 pairs of ribs	HP:0040283	OMIM:245600
26229	B3GAT3	HP:0003093	Limited hip extension	9/9	OMIM:143095
26229	B3GAT3	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
26229	B3GAT3	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:143095
26229	B3GAT3	HP:0000823	Delayed puberty	-	OMIM:131300
26229	B3GAT3	HP:0000894	Short clavicles	-	OMIM:615777
26229	B3GAT3	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
26229	B3GAT3	HP:0004568	Beaking of vertebral bodies	-	OMIM:150250
26229	B3GAT3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
26229	B3GAT3	HP:0003298	Spina bifida occulta	-	OMIM:150250
26229	B3GAT3	HP:0045075	Sparse eyebrow	-	OMIM:143095
26229	B3GAT3	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
26229	B3GAT3	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
26229	B3GAT3	HP:0000974	Hyperextensible skin	HP:0040283	OMIM:245600
26229	B3GAT3	HP:0000973	Cutis laxa	-	OMIM:245600
26229	B3GAT3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
26229	B3GAT3	HP:0000939	Osteoporosis	4/5	OMIM:259770
26229	B3GAT3	HP:0000939	Osteoporosis	-	OMIM:245600
26229	B3GAT3	HP:0000938	Osteopenia	1/5	OMIM:259770
26229	B3GAT3	HP:0000938	Osteopenia	1/1	OMIM:612394
26229	B3GAT3	HP:0000938	Osteopenia	11/12	OMIM:245600
26229	B3GAT3	HP:0040160	Generalized osteoporosis	HP:0040283	OMIM:245600
26229	B3GAT3	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
26229	B3GAT3	HP:6000970	Diminished sulfotransferase activity in cultured fibroblasts	2/2	OMIM:143095
26229	B3GAT3	HP:0000286	Epicanthus	1/7	OMIM:615777
26229	B3GAT3	HP:0000280	Coarse facial features	2/7	OMIM:615777
26229	B3GAT3	HP:0000274	Small face	-	OMIM:245600
26229	B3GAT3	HP:0000272	Malar flattening	-	OMIM:150250
26229	B3GAT3	HP:0000272	Malar flattening	1/1	OMIM:612394
26229	B3GAT3	HP:0006471	Fixed elbow flexion	-	OMIM:143095
26229	B3GAT3	HP:0006462	Generalized bone demineralization	-	OMIM:143095
26229	B3GAT3	HP:0007773	Vitreoretinopathy	-	OMIM:259770
26229	B3GAT3	HP:0002816	Genu recurvatum	3/6	OMIM:143095
26229	B3GAT3	HP:0002829	Arthralgia	-	OMIM:143095
26229	B3GAT3	HP:0002827	Hip dislocation	16/20	OMIM:150250
26229	B3GAT3	HP:0002827	Hip dislocation	3/7	OMIM:615777
26229	B3GAT3	HP:0002827	Hip dislocation	-	OMIM:245600
26229	B3GAT3	HP:0002808	Kyphosis	-	OMIM:143095
26229	B3GAT3	HP:0002808	Kyphosis	1/5	OMIM:259770
26229	B3GAT3	HP:0000238	Hydrocephalus	-	OMIM:245600
26229	B3GAT3	HP:0000252	Microcephaly	-	OMIM:259770
26229	B3GAT3	HP:0000252	Microcephaly	-	OMIM:615777
26229	B3GAT3	HP:0000248	Brachycephaly	-	OMIM:245600
26229	B3GAT3	HP:0001552	Barrel-shaped chest	-	OMIM:143095
26229	B3GAT3	HP:0001552	Barrel-shaped chest	-	OMIM:259770
26229	B3GAT3	HP:0000218	High palate	-	OMIM:143095
26229	B3GAT3	HP:0002857	Genu valgum	-	OMIM:131300
26229	B3GAT3	HP:0002857	Genu valgum	-	OMIM:143095
26229	B3GAT3	HP:0002857	Genu valgum	HP:0040283	OMIM:245600
26229	B3GAT3	HP:0001533	Slender build	-	OMIM:131300
26229	B3GAT3	HP:0000204	Cleft upper lip	-	OMIM:150250
26229	B3GAT3	HP:0001511	Intrauterine growth retardation	-	OMIM:150250
26229	B3GAT3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
26229	B3GAT3	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
26229	B3GAT3	HP:0007807	Optic nerve compression	-	OMIM:131300
26229	B3GAT3	HP:0012368	Flat face	7/7	OMIM:615777
26229	B3GAT3	HP:0012368	Flat face	1/1	OMIM:612394
26229	B3GAT3	HP:0012368	Flat face	HP:0040283	OMIM:245600
26229	B3GAT3	HP:0012368	Flat face	-	OMIM:150250
26229	B3GAT3	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
26229	B3GAT3	HP:0007875	Congenital blindness	4/5	OMIM:259770
26229	B3GAT3	HP:0007862	Retinal calcification	1/5	OMIM:259770
26229	B3GAT3	HP:0002938	Lumbar hyperlordosis	-	OMIM:143095
26229	B3GAT3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
26229	B3GAT3	HP:0002948	Vertebral fusion	8/16	OMIM:150250
26229	B3GAT3	HP:0002947	Cervical kyphosis	-	OMIM:150250
26229	B3GAT3	HP:0002945	Intervertebral space narrowing	9/9	OMIM:143095
26229	B3GAT3	HP:0005180	Tricuspid regurgitation	-	OMIM:143095
26229	B3GAT3	HP:0000365	Hearing impairment	-	OMIM:143095
26229	B3GAT3	HP:0000365	Hearing impairment	10/67	OMIM:131300
26229	B3GAT3	HP:0000365	Hearing impairment	4/19	OMIM:150250
26229	B3GAT3	HP:0000369	Low-set ears	2/2	OMIM:612394
26229	B3GAT3	HP:0000369	Low-set ears	4/7	OMIM:245600
26229	B3GAT3	HP:0000343	Long philtrum	HP:0040282	OMIM:143095
26229	B3GAT3	HP:0000343	Long philtrum	1/7	OMIM:615777
26229	B3GAT3	HP:0000343	Long philtrum	4/4	OMIM:245600
26229	B3GAT3	HP:0011001	Increased bone mineral density	-	OMIM:131300
26229	B3GAT3	HP:0000337	Broad forehead	HP:0040282	OMIM:143095
26229	B3GAT3	HP:0000337	Broad forehead	3/5	OMIM:245600
26229	B3GAT3	HP:0000347	Micrognathia	HP:0040283	OMIM:245600
26229	B3GAT3	HP:0002982	Tibial bowing	1/5	OMIM:259770
26229	B3GAT3	HP:0002982	Tibial bowing	-	OMIM:143095
26229	B3GAT3	HP:0001650	Aortic valve stenosis	-	OMIM:143095
26229	B3GAT3	HP:0001647	Bicuspid aortic valve	-	OMIM:245600
26229	B3GAT3	HP:0000316	Hypertelorism	-	OMIM:143095
26229	B3GAT3	HP:0000316	Hypertelorism	-	OMIM:150250
26229	B3GAT3	HP:0000316	Hypertelorism	-	OMIM:245600
26229	B3GAT3	HP:0000311	Round face	2/7	OMIM:615777
26229	B3GAT3	HP:0001642	Pulmonic stenosis	-	OMIM:143095
26229	B3GAT3	HP:0002974	Radioulnar synostosis	10/10	OMIM:245600
26229	B3GAT3	HP:0001659	Aortic regurgitation	-	OMIM:143095
26229	B3GAT3	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
26229	B3GAT3	HP:0002987	Elbow flexion contracture	-	OMIM:245600
26229	B3GAT3	HP:0001653	Mitral regurgitation	-	OMIM:143095
26229	B3GAT3	HP:0001655	Patent foramen ovale	-	OMIM:245600
26229	B3GAT3	HP:0001629	Ventricular septal defect	-	OMIM:143095
26229	B3GAT3	HP:0001629	Ventricular septal defect	-	OMIM:259770
26229	B3GAT3	HP:0001629	Ventricular septal defect	-	OMIM:150250
26229	B3GAT3	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
26229	B3GAT3	HP:0001623	Breech presentation	3/6	OMIM:143095
26229	B3GAT3	HP:0001640	Cardiomegaly	-	OMIM:245600
26229	B3GAT3	HP:0002970	Genu varum	-	OMIM:615777
26229	B3GAT3	HP:0000308	Microretrognathia	HP:0040283	OMIM:245600
26229	B3GAT3	HP:0000307	Pointed chin	1/2	OMIM:612394
26229	B3GAT3	HP:0002967	Cubitus valgus	-	OMIM:143095
26229	B3GAT3	HP:0001631	Atrial septal defect	-	OMIM:150250
26229	B3GAT3	HP:0001631	Atrial septal defect	-	OMIM:245600
26229	B3GAT3	HP:0000303	Mandibular prognathia	-	OMIM:131300
26229	B3GAT3	HP:0001634	Mitral valve prolapse	-	OMIM:245600
26229	B3GAT3	HP:0007957	Corneal opacity	-	OMIM:150250
26229	B3GAT3	HP:0006610	Wide intermamillary distance	-	OMIM:143095
26229	B3GAT3	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
26229	B3GAT3	HP:0000405	Conductive hearing impairment	-	OMIM:150250
26229	B3GAT3	HP:0001718	Mitral stenosis	-	OMIM:143095
26229	B3GAT3	HP:0001712	Left ventricular hypertrophy	-	OMIM:245600
26229	B3GAT3	HP:0001714	Ventricular hypertrophy	-	OMIM:143095
26229	B3GAT3	HP:0005280	Depressed nasal bridge	-	OMIM:150250
26229	B3GAT3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
26229	B3GAT3	HP:0005280	Depressed nasal bridge	13/24	OMIM:245600
26229	B3GAT3	HP:0000494	Downslanted palpebral fissures	7/10	OMIM:245600
26229	B3GAT3	HP:0000463	Anteverted nares	1/1	OMIM:612394
26229	B3GAT3	HP:0000470	Short neck	-	OMIM:143095
26229	B3GAT3	HP:0000470	Short neck	1/7	OMIM:615777
26229	B3GAT3	HP:0000470	Short neck	-	OMIM:245600
26229	B3GAT3	HP:0000465	Webbed neck	8/14	OMIM:245600
26229	B3GAT3	HP:0001799	Short nail	-	OMIM:150250
26229	B3GAT3	HP:0001772	Talipes equinovalgus	-	OMIM:245600
26229	B3GAT3	HP:0001772	Talipes equinovalgus	-	OMIM:150250
26229	B3GAT3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
26229	B3GAT3	HP:0001763	Pes planus	-	OMIM:143095
26229	B3GAT3	HP:0001763	Pes planus	1/7	OMIM:615777
26229	B3GAT3	HP:0001763	Pes planus	3/4	OMIM:245600
26229	B3GAT3	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
26229	B3GAT3	HP:0001762	Talipes equinovarus	6/6	OMIM:143095
26229	B3GAT3	HP:0001762	Talipes equinovarus	15/20	OMIM:150250
26229	B3GAT3	HP:0001762	Talipes equinovarus	-	OMIM:245600
26229	B3GAT3	HP:0000518	Cataract	1/5	OMIM:259770
26229	B3GAT3	HP:0000518	Cataract	1/1	OMIM:612394
26229	B3GAT3	HP:0001840	Metatarsus adductus	-	OMIM:615777
26229	B3GAT3	HP:0001840	Metatarsus adductus	-	OMIM:245600
26229	B3GAT3	HP:0001852	Sandal gap	6/13	OMIM:245600
26229	B3GAT3	HP:0000520	Proptosis	2/4	OMIM:131300
26229	B3GAT3	HP:0000520	Proptosis	7/7	OMIM:615777
26229	B3GAT3	HP:0000520	Proptosis	7/9	OMIM:245600
26229	B3GAT3	HP:0001822	Hallux valgus	9/12	OMIM:245600
26229	B3GAT3	HP:0000592	Blue sclerae	2/7	OMIM:615777
26229	B3GAT3	HP:0000592	Blue sclerae	8/10	OMIM:245600
26229	B3GAT3	HP:0000586	Shallow orbits	-	OMIM:150250
26229	B3GAT3	HP:0000586	Shallow orbits	1/1	OMIM:612394
26229	B3GAT3	HP:0011220	Prominent forehead	-	OMIM:150250
26229	B3GAT3	HP:0011220	Prominent forehead	-	OMIM:245600
26229	B3GAT3	HP:0000574	Thick eyebrow	-	OMIM:245600
26229	B3GAT3	HP:0000568	Microphthalmia	1/5	OMIM:259770
26229	B3GAT3	HP:0000565	Esotropia	-	OMIM:245600
26229	B3GAT3	HP:0000540	Hypermetropia	-	OMIM:245600
26229	B3GAT3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
26229	B3GAT3	HP:0012514	Lower limb pain	4/4	OMIM:131300
26229	B3GAT3	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
26229	B3GAT3	HP:0000545	Myopia	1/1	OMIM:612394
26235	FBXL4	HP:0002487	Hyperkinetic movements	1/1	OMIM:615471
26235	FBXL4	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	8/37	OMIM:615471
26235	FBXL4	HP:0002421	Poor head control	4/4	OMIM:615471
26235	FBXL4	HP:0002415	Leukodystrophy	6/6	OMIM:615471
26235	FBXL4	HP:0001298	Encephalopathy	3/3	OMIM:615471
26235	FBXL4	HP:0001272	Cerebellar atrophy	9/49	OMIM:615471
26235	FBXL4	HP:0001250	Seizure	9/17	OMIM:615471
26235	FBXL4	HP:0001252	Hypotonia	84/90	OMIM:615471
26235	FBXL4	HP:0001251	Ataxia	7/47	OMIM:615471
26235	FBXL4	HP:0001266	Choreoathetosis	HP:0040283	OMIM:615471
26235	FBXL4	HP:0001263	Global developmental delay	58/59	OMIM:615471
26235	FBXL4	HP:0000047	Hypospadias	8/44	OMIM:615471
26235	FBXL4	HP:0000023	Inguinal hernia	1/1	OMIM:615471
26235	FBXL4	HP:0001347	Hyperreflexia	1/1	OMIM:615471
26235	FBXL4	HP:0001357	Plagiocephaly	HP:0040283	OMIM:615471
26235	FBXL4	HP:0000028	Cryptorchidism	11/46	OMIM:615471
26235	FBXL4	HP:0001332	Dystonia	HP:0040283	OMIM:615471
26235	FBXL4	HP:0033725	Thin corpus callosum	13/50	OMIM:615471
26235	FBXL4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615471
26235	FBXL4	HP:0002650	Scoliosis	HP:0040283	OMIM:615471
26235	FBXL4	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:615471
26235	FBXL4	HP:0007663	Reduced visual acuity	7/51	OMIM:615471
26235	FBXL4	HP:0000126	Hydronephrosis	1/1	OMIM:615471
26235	FBXL4	HP:0002719	Recurrent infections	10/37	OMIM:615471
26235	FBXL4	HP:0002020	Gastroesophageal reflux	-	OMIM:615471
26235	FBXL4	HP:0003348	Hyperalaninemia	6/6	OMIM:615471
26235	FBXL4	HP:0002015	Dysphagia	2/3	OMIM:615471
26235	FBXL4	HP:0002013	Vomiting	3/5	OMIM:615471
26235	FBXL4	HP:0002007	Frontal bossing	2/2	OMIM:615471
26235	FBXL4	HP:0002092	Pulmonary arterial hypertension	5/63	OMIM:615471
26235	FBXL4	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:615471
26235	FBXL4	HP:0002059	Cerebral atrophy	32/62	OMIM:615471
26235	FBXL4	HP:0003487	Babinski sign	1/1	OMIM:615471
26235	FBXL4	HP:0002151	Increased circulating lactate concentration	99/99	OMIM:615471
26235	FBXL4	HP:0002119	Ventriculomegaly	18/59	OMIM:615471
26235	FBXL4	HP:0002126	Polymicrogyria	1/1	OMIM:615471
26235	FBXL4	HP:0003429	CNS hypomyelination	2/2	OMIM:615471
26235	FBXL4	HP:0004755	Supraventricular tachycardia	3/46	OMIM:615471
26235	FBXL4	HP:0010602	Type 2 muscle fiber predominance	1/1	OMIM:615471
26235	FBXL4	HP:0011924	Decreased activity of mitochondrial complex III	15/36	OMIM:615471
26235	FBXL4	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	8/19	OMIM:615471
26235	FBXL4	HP:0011923	Decreased activity of mitochondrial complex I	16/36	OMIM:615471
26235	FBXL4	HP:0002188	Delayed CNS myelination	1/6	OMIM:615471
26235	FBXL4	HP:0003593	Infantile onset	17/77	OMIM:615471
26235	FBXL4	HP:0002240	Hepatomegaly	1/2	OMIM:615471
26235	FBXL4	HP:0003535	3-Methylglutaconic aciduria	1/1	OMIM:615471
26235	FBXL4	HP:0002283	Global brain atrophy	39/39	OMIM:615471
26235	FBXL4	HP:0002280	Enlarged cisterna magna	13/49	OMIM:615471
26235	FBXL4	HP:0008347	Decreased activity of mitochondrial complex IV	18/36	OMIM:615471
26235	FBXL4	HP:0011968	Feeding difficulties	36/51	OMIM:615471
26235	FBXL4	HP:0008314	Decreased activity of mitochondrial complex II	12/35	OMIM:615471
26235	FBXL4	HP:0034648	Elevated urine fumaric acid level	1/1	OMIM:615471
26235	FBXL4	HP:0002384	Focal impaired awareness seizure	2/38	OMIM:615471
26235	FBXL4	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1/1	OMIM:615471
26235	FBXL4	HP:0003648	Lacticaciduria	5/5	OMIM:615471
26235	FBXL4	HP:0007109	Periventricular cysts	6/48	OMIM:615471
26235	FBXL4	HP:0003623	Neonatal onset	57/84	OMIM:615471
26235	FBXL4	HP:0003621	Juvenile onset	2/38	OMIM:615471
26235	FBXL4	HP:0000639	Nystagmus	12/59	OMIM:615471
26235	FBXL4	HP:0000648	Optic atrophy	8/52	OMIM:615471
26235	FBXL4	HP:0001947	Renal tubular acidosis	HP:0040283	OMIM:615471
26235	FBXL4	HP:0001942	Metabolic acidosis	5/5	OMIM:615471
26235	FBXL4	HP:0001903	Anemia	2/2	OMIM:615471
26235	FBXL4	HP:0011344	Severe global developmental delay	-	OMIM:615471
26235	FBXL4	HP:0001987	Hyperammonemia	26/58	OMIM:615471
26235	FBXL4	HP:0000664	Synophrys	4/28	OMIM:615471
26235	FBXL4	HP:0004322	Short stature	27/53	OMIM:615471
26235	FBXL4	HP:0004313	Decreased circulating immunoglobulin concentration	1/1	OMIM:615471
26235	FBXL4	HP:0030674	Antenatal onset	3/11	OMIM:615471
26235	FBXL4	HP:0012745	Short palpebral fissure	8/68	OMIM:615471
26235	FBXL4	HP:0012707	Elevated brain lactate level by MRS	20/26	OMIM:615471
26235	FBXL4	HP:0011463	Childhood onset	9/64	OMIM:615471
26235	FBXL4	HP:0011427	Enlarged fetal cisterna magna	1/1	OMIM:615471
26235	FBXL4	HP:0003128	Lactic acidosis	7/7	OMIM:615471
26235	FBXL4	HP:0003202	Skeletal muscle atrophy	-	OMIM:615471
26235	FBXL4	HP:0040155	Elevated urinary 3-hydroxybutyric acid	1/1	OMIM:615471
26235	FBXL4	HP:0011675	Arrhythmia	HP:0040283	OMIM:615471
26235	FBXL4	HP:0000286	Epicanthus	11/67	OMIM:615471
26235	FBXL4	HP:0000275	Narrow face	-	OMIM:615471
26235	FBXL4	HP:0030059	Mitochondrial depletion	18/20	OMIM:615471
26235	FBXL4	HP:0000238	Hydrocephalus	1/1	OMIM:615471
26235	FBXL4	HP:0000252	Microcephaly	30/63	OMIM:615471
26235	FBXL4	HP:0000232	Everted lower lip vermilion	-	OMIM:615471
26235	FBXL4	HP:0001537	Umbilical hernia	1/1	OMIM:615471
26235	FBXL4	HP:0001508	Failure to thrive	32/55	OMIM:615471
26235	FBXL4	HP:0001518	Small for gestational age	28/44	OMIM:615471
26235	FBXL4	HP:0001510	Growth delay	-	OMIM:615471
26235	FBXL4	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	OMIM:615471
26235	FBXL4	HP:0000365	Hearing impairment	7/52	OMIM:615471
26235	FBXL4	HP:0000369	Low-set ears	15/68	OMIM:615471
26235	FBXL4	HP:0000343	Long philtrum	12/68	OMIM:615471
26235	FBXL4	HP:0001667	Right ventricular hypertrophy	2/9	OMIM:615471
26235	FBXL4	HP:0000336	Prominent supraorbital ridges	1/1	OMIM:615471
26235	FBXL4	HP:0000347	Micrognathia	4/66	OMIM:615471
26235	FBXL4	HP:0000319	Smooth philtrum	10/70	OMIM:615471
26235	FBXL4	HP:0000316	Hypertelorism	8/66	OMIM:615471
26235	FBXL4	HP:0001643	Patent ductus arteriosus	5/11	OMIM:615471
26235	FBXL4	HP:0000331	Short chin	2/2	OMIM:615471
26235	FBXL4	HP:0001655	Patent foramen ovale	7/46	OMIM:615471
26235	FBXL4	HP:0001622	Premature birth	7/52	OMIM:615471
26235	FBXL4	HP:0001639	Hypertrophic cardiomyopathy	15/56	OMIM:615471
26235	FBXL4	HP:0001636	Tetralogy of Fallot	1/46	OMIM:615471
26235	FBXL4	HP:0001631	Atrial septal defect	4/19	OMIM:615471
26235	FBXL4	HP:0001712	Left ventricular hypertrophy	1/9	OMIM:615471
26235	FBXL4	HP:0000486	Strabismus	11/52	OMIM:615471
26235	FBXL4	HP:0012469	Infantile spasms	1/37	OMIM:615471
26235	FBXL4	HP:0000494	Downslanted palpebral fissures	-	OMIM:615471
26235	FBXL4	HP:0011120	Concave nasal ridge	-	OMIM:615471
26235	FBXL4	HP:0001773	Short foot	HP:0040283	OMIM:615471
26235	FBXL4	HP:0000411	Protruding ear	-	OMIM:615471
26235	FBXL4	HP:0000431	Wide nasal bridge	15/68	OMIM:615471
26235	FBXL4	HP:0005487	Prominent metopic ridge	2/2	OMIM:615471
26235	FBXL4	HP:0000518	Cataract	2/6	OMIM:615471
26235	FBXL4	HP:0000527	Long eyelashes	9/66	OMIM:615471
26235	FBXL4	HP:0000508	Ptosis	5/66	OMIM:615471
26235	FBXL4	HP:0011220	Prominent forehead	14/67	OMIM:615471
26235	FBXL4	HP:0001888	Decreased total lymphocyte count	1/1	OMIM:615471
26235	FBXL4	HP:0000574	Thick eyebrow	11/68	OMIM:615471
26235	FBXL4	HP:0001875	Decreased total neutrophil count	13/70	OMIM:615471
26249	KLHL3	HP:0000007	Autosomal recessive inheritance	-	OMIM:614495
26249	KLHL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:614495
26249	KLHL3	HP:0002153	Hyperkalemia	-	OMIM:614495
26249	KLHL3	HP:0008242	Pseudohypoaldosteronism	-	OMIM:614495
26249	KLHL3	HP:0004918	Hyperchloremic metabolic acidosis	-	OMIM:614495
26249	KLHL3	HP:0011462	Young adult onset	-	OMIM:614495
26249	KLHL3	HP:0011423	Hyperchloremia	-	OMIM:614495
26249	KLHL3	HP:0000822	Hypertension	-	OMIM:614495
26258	BLOC1S6	HP:0001107	Ocular albinism	1/1	OMIM:614171
26258	BLOC1S6	HP:0001263	Global developmental delay	0/1	OMIM:614171
26258	BLOC1S6	HP:0000007	Autosomal recessive inheritance	-	OMIM:614171
26258	BLOC1S6	HP:0001010	Hypopigmentation of the skin	-	OMIM:614171
26258	BLOC1S6	HP:0000639	Nystagmus	1/1	OMIM:614171
26258	BLOC1S6	HP:0001581	Recurrent skin infections	1/1	OMIM:614171
26258	BLOC1S6	HP:0007894	Hypopigmentation of the fundus	-	OMIM:614171
26258	BLOC1S6	HP:0030402	Abnormal platelet aggregation	0/1	OMIM:614171
26258	BLOC1S6	HP:0001882	Decreased total leukocyte count	1/1	OMIM:614171
26258	BLOC1S6	HP:0001873	Thrombocytopenia	1/1	OMIM:614171
26275	HIBCH	HP:0001298	Encephalopathy	HP:0040283	ORPHA:88639
26275	HIBCH	HP:0001274	Agenesis of corpus callosum	1/1	OMIM:250620
26275	HIBCH	HP:0001270	Motor delay	HP:0040281	ORPHA:88639
26275	HIBCH	HP:0001270	Motor delay	1/1	OMIM:250620
26275	HIBCH	HP:0002599	Head titubation	HP:0040284	ORPHA:88639
26275	HIBCH	HP:0002599	Head titubation	1/1	OMIM:250620
26275	HIBCH	HP:0001254	Lethargy	1/1	OMIM:250620
26275	HIBCH	HP:0001250	Seizure	-	OMIM:250620
26275	HIBCH	HP:0001250	Seizure	HP:0040282	ORPHA:88639
26275	HIBCH	HP:0001252	Hypotonia	2/2	OMIM:250620
26275	HIBCH	HP:0001252	Hypotonia	HP:0040281	ORPHA:88639
26275	HIBCH	HP:0001251	Ataxia	1/1	OMIM:250620
26275	HIBCH	HP:0001263	Global developmental delay	-	OMIM:250620
26275	HIBCH	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040282	ORPHA:88639
26275	HIBCH	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:88639
26275	HIBCH	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:88639
26275	HIBCH	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:88639
26275	HIBCH	HP:0001332	Dystonia	HP:0040281	ORPHA:88639
26275	HIBCH	HP:0001332	Dystonia	-	OMIM:250620
26275	HIBCH	HP:0000007	Autosomal recessive inheritance	-	OMIM:250620
26275	HIBCH	HP:0001336	Myoclonus	-	OMIM:250620
26275	HIBCH	HP:0001310	Dysmetria	1/1	OMIM:250620
26275	HIBCH	HP:0003355	Aminoaciduria	-	OMIM:250620
26275	HIBCH	HP:0002013	Vomiting	HP:0040281	ORPHA:88639
26275	HIBCH	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:88639
26275	HIBCH	HP:0002078	Truncal ataxia	HP:0040282	ORPHA:88639
26275	HIBCH	HP:0002078	Truncal ataxia	1/1	OMIM:250620
26275	HIBCH	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:88639
26275	HIBCH	HP:0003468	Abnormal vertebral morphology	-	OMIM:250620
26275	HIBCH	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:88639
26275	HIBCH	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:88639
26275	HIBCH	HP:6000215	Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity	-	OMIM:250620
26275	HIBCH	HP:0003593	Infantile onset	2/2	OMIM:250620
26275	HIBCH	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:88639
26275	HIBCH	HP:0011968	Feeding difficulties	-	OMIM:250620
26275	HIBCH	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:88639
26275	HIBCH	HP:0002376	Developmental regression	1/1	OMIM:250620
26275	HIBCH	HP:0002344	Progressive neurologic deterioration	HP:0040281	ORPHA:88639
26275	HIBCH	HP:0002352	Leukoencephalopathy	HP:0040283	ORPHA:88639
26275	HIBCH	HP:0000639	Nystagmus	HP:0040282	ORPHA:88639
26275	HIBCH	HP:0000639	Nystagmus	1/1	OMIM:250620
26275	HIBCH	HP:0001942	Metabolic acidosis	HP:0040282	ORPHA:88639
26275	HIBCH	HP:0012697	Small basal ganglia	HP:0040283	ORPHA:88639
26275	HIBCH	HP:0011334	Facial shape deformation	HP:0040282	ORPHA:88639
26275	HIBCH	HP:0000737	Irritability	HP:0040283	ORPHA:88639
26275	HIBCH	HP:0000737	Irritability	1/1	OMIM:250620
26275	HIBCH	HP:0000925	Abnormality of the vertebral column	-	OMIM:250620
26275	HIBCH	HP:0003287	Abnormality of mitochondrial metabolism	HP:0040282	ORPHA:88639
26275	HIBCH	HP:0000286	Epicanthus	HP:0040282	ORPHA:88639
26275	HIBCH	HP:0000286	Epicanthus	-	OMIM:250620
26275	HIBCH	HP:0001508	Failure to thrive	HP:0040282	ORPHA:88639
26275	HIBCH	HP:0001508	Failure to thrive	1/1	OMIM:250620
26275	HIBCH	HP:0001636	Tetralogy of Fallot	HP:0040284	ORPHA:88639
26275	HIBCH	HP:0001636	Tetralogy of Fallot	1/1	OMIM:250620
26275	HIBCH	HP:0000486	Strabismus	HP:0040282	ORPHA:88639
26275	HIBCH	HP:0000486	Strabismus	-	OMIM:250620
26275	HIBCH	HP:0012469	Infantile spasms	HP:0040282	ORPHA:88639
26276	VPS33B	HP:0001290	Generalized hypotonia	-	OMIM:208085
26276	VPS33B	HP:0001252	Hypotonia	-	OMIM:208085
26276	VPS33B	HP:0001252	Hypotonia	HP:0040283	ORPHA:2697
26276	VPS33B	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2697
26276	VPS33B	HP:0001263	Global developmental delay	2/3	OMIM:620009
26276	VPS33B	HP:0001263	Global developmental delay	-	OMIM:208085
26276	VPS33B	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040282	ORPHA:2697
26276	VPS33B	HP:0000093	Proteinuria	3/3	OMIM:620010
26276	VPS33B	HP:0000092	Renal tubular atrophy	2/16	OMIM:208085
26276	VPS33B	HP:0001396	Cholestasis	3/3	OMIM:620010
26276	VPS33B	HP:0001385	Hip dysplasia	-	OMIM:208085
26276	VPS33B	HP:0007545	Congenital palmoplantar hyperkeratosis	3/3	OMIM:620009
26276	VPS33B	HP:0007460	Autoamputation of digits	1/3	OMIM:620009
26276	VPS33B	HP:0008780	Congenital bilateral hip dislocation	HP:0040282	ORPHA:2697
26276	VPS33B	HP:0001339	Lissencephaly	HP:0040283	OMIM:208085
26276	VPS33B	HP:0000007	Autosomal recessive inheritance	-	OMIM:208085
26276	VPS33B	HP:0000007	Autosomal recessive inheritance	-	OMIM:620009
26276	VPS33B	HP:0000007	Autosomal recessive inheritance	-	OMIM:620010
26276	VPS33B	HP:0002611	Cholestatic liver disease	-	OMIM:208085
26276	VPS33B	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:2697
26276	VPS33B	HP:0000121	Nephrocalcinosis	6/14	OMIM:208085
26276	VPS33B	HP:0000124	Renal tubular dysfunction	HP:0040282	ORPHA:2697
26276	VPS33B	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:2697
26276	VPS33B	HP:0000112	Nephropathy	-	OMIM:208085
26276	VPS33B	HP:0002719	Recurrent infections	HP:0040282	ORPHA:2697
26276	VPS33B	HP:0003355	Aminoaciduria	62/62	OMIM:208085
26276	VPS33B	HP:0002028	Chronic diarrhea	HP:0040282	ORPHA:2697
26276	VPS33B	HP:0030948	Elevated gamma-glutamyltransferase level	-	ORPHA:2697
26276	VPS33B	HP:0030948	Elevated gamma-glutamyltransferase level	0/62	OMIM:208085
26276	VPS33B	HP:0011873	Abnormal platelet count	HP:0040282	ORPHA:2697
26276	VPS33B	HP:0003593	Infantile onset	2/3	OMIM:620009
26276	VPS33B	HP:0003593	Infantile onset	3/3	OMIM:620010
26276	VPS33B	HP:0003577	Congenital onset	1/3	OMIM:620009
26276	VPS33B	HP:0003577	Congenital onset	-	OMIM:208085
26276	VPS33B	HP:0002240	Hepatomegaly	2/3	OMIM:620010
26276	VPS33B	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:2697
26276	VPS33B	HP:0200084	Giant cell hepatitis	12/16	OMIM:208085
26276	VPS33B	HP:0003645	Prolonged partial thromboplastin time	2/3	OMIM:620010
26276	VPS33B	HP:0009806	Nephrogenic diabetes insipidus	HP:0040283	OMIM:208085
26276	VPS33B	HP:0009806	Nephrogenic diabetes insipidus	HP:0040283	ORPHA:2697
26276	VPS33B	HP:0034714	Hepatic melanin-like lysosomal pigmentation	-	OMIM:208085
26276	VPS33B	HP:0005565	Reduced renal corticomedullary differentiation	6/14	OMIM:208085
26276	VPS33B	HP:0001947	Renal tubular acidosis	62/62	OMIM:208085
26276	VPS33B	HP:0001944	Dehydration	-	OMIM:208085
26276	VPS33B	HP:0001942	Metabolic acidosis	-	OMIM:208085
26276	VPS33B	HP:0001994	Renal Fanconi syndrome	HP:0040282	ORPHA:2697
26276	VPS33B	HP:0004322	Short stature	1/3	OMIM:620010
26276	VPS33B	HP:0031956	Elevated circulating aspartate aminotransferase concentration	2/3	OMIM:620010
26276	VPS33B	HP:0031964	Elevated circulating alanine aminotransferase concentration	2/3	OMIM:620010
26276	VPS33B	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:2697
26276	VPS33B	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:2697
26276	VPS33B	HP:0000973	Cutis laxa	HP:0040283	ORPHA:2697
26276	VPS33B	HP:0000989	Pruritus	3/3	OMIM:620010
26276	VPS33B	HP:0000952	Jaundice	62/62	OMIM:208085
26276	VPS33B	HP:0000952	Jaundice	2/3	OMIM:620010
26276	VPS33B	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:2697
26276	VPS33B	HP:0000938	Osteopenia	HP:0040283	ORPHA:2697
26276	VPS33B	HP:0008064	Ichthyosis	HP:0040282	ORPHA:2697
26276	VPS33B	HP:0008064	Ichthyosis	-	OMIM:208085
26276	VPS33B	HP:0008064	Ichthyosis	3/3	OMIM:620009
26276	VPS33B	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:2697
26276	VPS33B	HP:0002804	Arthrogryposis multiplex congenita	60/62	OMIM:208085
26276	VPS33B	HP:0000252	Microcephaly	-	OMIM:208085
26276	VPS33B	HP:0000252	Microcephaly	HP:0040283	ORPHA:2697
26276	VPS33B	HP:0012202	Increased serum bile acid concentration	1/3	OMIM:620010
26276	VPS33B	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:2697
26276	VPS33B	HP:0001562	Oligohydramnios	10/62	OMIM:208085
26276	VPS33B	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:2697
26276	VPS33B	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:2697
26276	VPS33B	HP:0001522	Death in infancy	-	OMIM:208085
26276	VPS33B	HP:0001508	Failure to thrive	-	OMIM:208085
26276	VPS33B	HP:0001518	Small for gestational age	30/62	OMIM:208085
26276	VPS33B	HP:0005248	Intrahepatic biliary atresia	7/16	OMIM:208085
26276	VPS33B	HP:0005248	Intrahepatic biliary atresia	HP:0040283	ORPHA:2697
26276	VPS33B	HP:0006566	Neonatal cholestatic liver disease	HP:0040282	ORPHA:2697
26276	VPS33B	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:208085
26276	VPS33B	HP:0002908	Conjugated hyperbilirubinemia	HP:0040282	ORPHA:2697
26276	VPS33B	HP:0002908	Conjugated hyperbilirubinemia	62/62	OMIM:208085
26276	VPS33B	HP:0002908	Conjugated hyperbilirubinemia	3/3	OMIM:620010
26276	VPS33B	HP:0002904	Hyperbilirubinemia	3/3	OMIM:620010
26276	VPS33B	HP:0000365	Hearing impairment	4/62	OMIM:208085
26276	VPS33B	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2697
26276	VPS33B	HP:0000369	Low-set ears	-	OMIM:208085
26276	VPS33B	HP:0000369	Low-set ears	HP:0040283	ORPHA:2697
26276	VPS33B	HP:0000340	Sloping forehead	-	OMIM:208085
26276	VPS33B	HP:0001667	Right ventricular hypertrophy	-	OMIM:208085
26276	VPS33B	HP:0000347	Micrognathia	-	OMIM:208085
26276	VPS33B	HP:0001655	Patent foramen ovale	2/62	OMIM:208085
26276	VPS33B	HP:0001629	Ventricular septal defect	2/62	OMIM:208085
26276	VPS33B	HP:0001631	Atrial septal defect	12/72	OMIM:208085
26276	VPS33B	HP:0012483	Abnormal alpha granules	HP:0040282	ORPHA:2697
26276	VPS33B	HP:0000407	Sensorineural hearing impairment	3/3	OMIM:620009
26276	VPS33B	HP:0001744	Splenomegaly	2/3	OMIM:620010
26276	VPS33B	HP:0001762	Talipes equinovarus	1/3	OMIM:620009
26276	VPS33B	HP:0030402	Abnormal platelet aggregation	HP:0040282	ORPHA:2697
26276	VPS33B	HP:0001892	Abnormal bleeding	11/62	OMIM:208085
26276	VPS33B	HP:0001884	Talipes calcaneovalgus	-	OMIM:208085
26276	VPS33B	HP:0001873	Thrombocytopenia	7/62	OMIM:208085
26277	TINF2	HP:0009926	Epiphora	7/14	OMIM:613990
26277	TINF2	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:1775
26277	TINF2	HP:0003745	Sporadic	-	OMIM:268130
26277	TINF2	HP:0001276	Hypertonia	HP:0040282	ORPHA:3322
26277	TINF2	HP:0001276	Hypertonia	-	OMIM:268130
26277	TINF2	HP:0001250	Seizure	HP:0040283	ORPHA:3088
26277	TINF2	HP:0001251	Ataxia	-	OMIM:127550
26277	TINF2	HP:0001251	Ataxia	-	OMIM:268130
26277	TINF2	HP:0001251	Ataxia	HP:0040283	ORPHA:3088
26277	TINF2	HP:0001251	Ataxia	-	OMIM:613990
26277	TINF2	HP:0001251	Ataxia	HP:0040283	ORPHA:3322
26277	TINF2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3322
26277	TINF2	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:3322
26277	TINF2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3322
26277	TINF2	HP:0001263	Global developmental delay	2/2	OMIM:268130
26277	TINF2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1775
26277	TINF2	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1775
26277	TINF2	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1775
26277	TINF2	HP:0007440	Generalized hyperpigmentation	HP:0040282	ORPHA:3322
26277	TINF2	HP:0007427	Reticulated skin pigmentation	9/12	OMIM:613990
26277	TINF2	HP:0007392	Excessive wrinkled skin	HP:0040282	ORPHA:3322
26277	TINF2	HP:0008661	Urethral stenosis	1/12	OMIM:613990
26277	TINF2	HP:0008661	Urethral stenosis	HP:0040282	ORPHA:1775
26277	TINF2	HP:0002514	Cerebral calcification	-	OMIM:268130
26277	TINF2	HP:0002514	Cerebral calcification	-	OMIM:613990
26277	TINF2	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:3322
26277	TINF2	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:1775
26277	TINF2	HP:0001399	Hepatic failure	HP:0040283	ORPHA:1775
26277	TINF2	HP:0001394	Cirrhosis	2/12	OMIM:127550
26277	TINF2	HP:0001394	Cirrhosis	HP:0040283	ORPHA:1775
26277	TINF2	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:1775
26277	TINF2	HP:0000028	Cryptorchidism	-	OMIM:613990
26277	TINF2	HP:0002664	Neoplasm	HP:0040283	ORPHA:3322
26277	TINF2	HP:0002664	Neoplasm	HP:0040282	ORPHA:1775
26277	TINF2	HP:0001328	Specific learning disability	-	OMIM:127550
26277	TINF2	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040282	ORPHA:1775
26277	TINF2	HP:0002665	Lymphoma	HP:0040283	ORPHA:1775
26277	TINF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613990
26277	TINF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:127550
26277	TINF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:268130
26277	TINF2	HP:0002639	Budd-Chiari syndrome	1/12	OMIM:127550
26277	TINF2	HP:0002650	Scoliosis	HP:0040283	ORPHA:1775
26277	TINF2	HP:0001321	Cerebellar hypoplasia	1/12	OMIM:613990
26277	TINF2	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:3322
26277	TINF2	HP:0001321	Cerebellar hypoplasia	2/2	OMIM:268130
26277	TINF2	HP:0001321	Cerebellar hypoplasia	-	OMIM:127550
26277	TINF2	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:3088
26277	TINF2	HP:0002605	Hepatic necrosis	1/12	OMIM:127550
26277	TINF2	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:1775
26277	TINF2	HP:0007617	Fine, reticulate skin pigmentation	1/1	OMIM:268130
26277	TINF2	HP:0007617	Fine, reticulate skin pigmentation	HP:0040282	ORPHA:3088
26277	TINF2	HP:0007588	Reticular hyperpigmentation	10/12	OMIM:127550
26277	TINF2	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:1775
26277	TINF2	HP:0002745	Oral leukoplakia	2/2	OMIM:268130
26277	TINF2	HP:0002745	Oral leukoplakia	10/13	OMIM:613990
26277	TINF2	HP:0002745	Oral leukoplakia	HP:0040282	ORPHA:3088
26277	TINF2	HP:0002745	Oral leukoplakia	HP:0040282	ORPHA:3322
26277	TINF2	HP:0002745	Oral leukoplakia	HP:0040281	ORPHA:1775
26277	TINF2	HP:0002745	Oral leukoplakia	4/12	OMIM:127550
26277	TINF2	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:3322
26277	TINF2	HP:0002024	Malabsorption	HP:0040282	ORPHA:1775
26277	TINF2	HP:0002094	Dyspnea	1/12	OMIM:127550
26277	TINF2	HP:0002043	Esophageal stricture	1/2	OMIM:613990
26277	TINF2	HP:0010450	Esophageal stenosis	HP:0040282	ORPHA:1775
26277	TINF2	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:1775
26277	TINF2	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:3322
26277	TINF2	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:3322
26277	TINF2	HP:0002136	Broad-based gait	1/1	OMIM:268130
26277	TINF2	HP:0002164	Nail dysplasia	10/11	OMIM:613990
26277	TINF2	HP:0003593	Infantile onset	1/1	OMIM:268130
26277	TINF2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:1775
26277	TINF2	HP:0002239	Gastrointestinal hemorrhage	1/2	OMIM:613990
26277	TINF2	HP:0002216	Premature graying of hair	4/12	OMIM:127550
26277	TINF2	HP:0002216	Premature graying of hair	-	OMIM:613990
26277	TINF2	HP:0002216	Premature graying of hair	HP:0040282	ORPHA:3322
26277	TINF2	HP:0002216	Premature graying of hair	HP:0040283	ORPHA:1775
26277	TINF2	HP:0002213	Fine hair	-	OMIM:268130
26277	TINF2	HP:0002213	Fine hair	-	OMIM:613990
26277	TINF2	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:3322
26277	TINF2	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1775
26277	TINF2	HP:0002206	Pulmonary fibrosis	3/12	OMIM:127550
26277	TINF2	HP:0002206	Pulmonary fibrosis	-	OMIM:613990
26277	TINF2	HP:0008402	Ridged fingernail	-	OMIM:268130
26277	TINF2	HP:0008404	Nail dystrophy	2/2	OMIM:268130
26277	TINF2	HP:0008404	Nail dystrophy	8/10	OMIM:127550
26277	TINF2	HP:0008404	Nail dystrophy	2/2	OMIM:613990
26277	TINF2	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:3088
26277	TINF2	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:3322
26277	TINF2	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:1775
26277	TINF2	HP:0430048	Intracranial calcification	HP:0040281	ORPHA:3088
26277	TINF2	HP:0010624	Aplastic/hypoplastic toenail	HP:0040282	ORPHA:1775
26277	TINF2	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:1775
26277	TINF2	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:1775
26277	TINF2	HP:0002370	Poor coordination	1/1	OMIM:268130
26277	TINF2	HP:0002344	Progressive neurologic deterioration	-	OMIM:268130
26277	TINF2	HP:0200037	Skin vesicle	HP:0040283	ORPHA:1775
26277	TINF2	HP:0100670	Coarse metaphyseal trabecularization	HP:0040282	ORPHA:1775
26277	TINF2	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:1775
26277	TINF2	HP:0200042	Skin ulcer	HP:0040282	ORPHA:1775
26277	TINF2	HP:0003621	Juvenile onset	4/12	OMIM:613990
26277	TINF2	HP:0005528	Bone marrow hypocellularity	1/1	OMIM:268130
26277	TINF2	HP:0005528	Bone marrow hypocellularity	-	OMIM:127550
26277	TINF2	HP:0005528	Bone marrow hypocellularity	-	OMIM:613990
26277	TINF2	HP:0005528	Bone marrow hypocellularity	HP:0040281	ORPHA:3088
26277	TINF2	HP:0005528	Bone marrow hypocellularity	HP:0040283	ORPHA:3322
26277	TINF2	HP:0005528	Bone marrow hypocellularity	HP:0040282	ORPHA:1775
26277	TINF2	HP:0005518	Increased mean corpuscular volume	11/12	OMIM:127550
26277	TINF2	HP:0000639	Nystagmus	-	OMIM:268130
26277	TINF2	HP:0001972	Macrocytic anemia	1/1	OMIM:268130
26277	TINF2	HP:0001972	Macrocytic anemia	2/2	OMIM:613990
26277	TINF2	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:3322
26277	TINF2	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:1775
26277	TINF2	HP:0000600	Abnormality of the pharynx	HP:0040282	ORPHA:1775
26277	TINF2	HP:0001903	Anemia	1/2	OMIM:613990
26277	TINF2	HP:0001903	Anemia	HP:0040282	ORPHA:3322
26277	TINF2	HP:0001903	Anemia	6/12	OMIM:127550
26277	TINF2	HP:0001903	Anemia	HP:0040281	ORPHA:1775
26277	TINF2	HP:0001915	Aplastic anemia	1/1	OMIM:268130
26277	TINF2	HP:0001915	Aplastic anemia	7/12	OMIM:613990
26277	TINF2	HP:0001915	Aplastic anemia	HP:0040282	ORPHA:3088
26277	TINF2	HP:0001915	Aplastic anemia	-	OMIM:127550
26277	TINF2	HP:0011358	Generalized hypopigmentation of hair	HP:0040282	ORPHA:3322
26277	TINF2	HP:0011364	White hair	HP:0040283	ORPHA:1775
26277	TINF2	HP:0000679	Taurodontia	HP:0040282	ORPHA:1775
26277	TINF2	HP:0000670	Carious teeth	-	OMIM:127550
26277	TINF2	HP:0000670	Carious teeth	HP:0040282	ORPHA:1775
26277	TINF2	HP:0000668	Hypodontia	HP:0040282	ORPHA:1775
26277	TINF2	HP:0004322	Short stature	HP:0040281	ORPHA:3322
26277	TINF2	HP:0004322	Short stature	-	OMIM:613990
26277	TINF2	HP:0004322	Short stature	HP:0040282	ORPHA:1775
26277	TINF2	HP:0004334	Dermal atrophy	-	OMIM:127550
26277	TINF2	HP:0004334	Dermal atrophy	HP:0040283	ORPHA:3088
26277	TINF2	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:3322
26277	TINF2	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:1775
26277	TINF2	HP:0012733	Macule	HP:0040281	ORPHA:1775
26277	TINF2	HP:0000750	Delayed speech and language development	-	OMIM:613990
26277	TINF2	HP:0000704	Periodontitis	HP:0040282	ORPHA:1775
26277	TINF2	HP:0011463	Childhood onset	1/1	OMIM:268130
26277	TINF2	HP:0011463	Childhood onset	6/14	OMIM:613990
26277	TINF2	HP:0011462	Young adult onset	4/12	OMIM:613990
26277	TINF2	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:3088
26277	TINF2	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2/12	OMIM:613990
26277	TINF2	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1775
26277	TINF2	HP:0045051	Decreased DLCO	4/12	OMIM:613990
26277	TINF2	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1775
26277	TINF2	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:1775
26277	TINF2	HP:0000958	Dry skin	-	OMIM:613990
26277	TINF2	HP:0000939	Osteoporosis	-	OMIM:613990
26277	TINF2	HP:0000939	Osteoporosis	-	OMIM:127550
26277	TINF2	HP:0000939	Osteoporosis	HP:0040283	ORPHA:1775
26277	TINF2	HP:0000938	Osteopenia	1/2	OMIM:613990
26277	TINF2	HP:0008070	Sparse hair	-	OMIM:268130
26277	TINF2	HP:0008070	Sparse hair	-	OMIM:127550
26277	TINF2	HP:0008070	Sparse hair	HP:0040282	ORPHA:3088
26277	TINF2	HP:0008070	Sparse hair	HP:0040282	ORPHA:1775
26277	TINF2	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1775
26277	TINF2	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:1775
26277	TINF2	HP:0001596	Alopecia	-	OMIM:613990
26277	TINF2	HP:0001596	Alopecia	-	OMIM:127550
26277	TINF2	HP:0001596	Alopecia	HP:0040283	ORPHA:1775
26277	TINF2	HP:0031413	Short telomere length	2/2	OMIM:268130
26277	TINF2	HP:0031413	Short telomere length	11/12	OMIM:613990
26277	TINF2	HP:0012227	Urethral stricture	1/12	OMIM:613990
26277	TINF2	HP:0000252	Microcephaly	HP:0040281	ORPHA:3322
26277	TINF2	HP:0000252	Microcephaly	1/1	OMIM:268130
26277	TINF2	HP:0000252	Microcephaly	HP:0040282	ORPHA:3088
26277	TINF2	HP:0000252	Microcephaly	-	OMIM:613990
26277	TINF2	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:1775
26277	TINF2	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:3088
26277	TINF2	HP:0002863	Myelodysplasia	-	OMIM:127550
26277	TINF2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:3322
26277	TINF2	HP:0001511	Intrauterine growth retardation	-	OMIM:268130
26277	TINF2	HP:0001511	Intrauterine growth retardation	-	OMIM:613990
26277	TINF2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3322
26277	TINF2	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1775
26277	TINF2	HP:0001510	Growth delay	HP:0040282	ORPHA:3088
26277	TINF2	HP:0001510	Growth delay	-	OMIM:613990
26277	TINF2	HP:0007898	Exudative retinopathy	2/2	OMIM:268130
26277	TINF2	HP:0007898	Exudative retinopathy	HP:0040282	ORPHA:3088
26277	TINF2	HP:0007898	Exudative retinopathy	1/12	OMIM:613990
26277	TINF2	HP:0006530	Abnormal pulmonary interstitial morphology	1/2	OMIM:613990
26277	TINF2	HP:0006515	Interstitial pneumonitis	1/12	OMIM:127550
26277	TINF2	HP:0006480	Premature loss of teeth	-	OMIM:127550
26277	TINF2	HP:0000365	Hearing impairment	-	OMIM:613990
26277	TINF2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1775
26277	TINF2	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:1775
26277	TINF2	HP:0000499	Abnormal eyelash morphology	HP:0040283	ORPHA:1775
26277	TINF2	HP:0000498	Blepharitis	HP:0040283	ORPHA:1775
26277	TINF2	HP:0005374	Cellular immunodeficiency	HP:0040282	ORPHA:1775
26277	TINF2	HP:0000485	Megalocornea	-	OMIM:268130
26277	TINF2	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1775
26277	TINF2	HP:0006739	Squamous cell carcinoma of the skin	-	OMIM:127550
26277	TINF2	HP:0000518	Cataract	HP:0040283	ORPHA:1775
26277	TINF2	HP:0001807	Ridged nail	-	OMIM:127550
26277	TINF2	HP:0001803	Nail pits	-	OMIM:268130
26277	TINF2	HP:0001803	Nail pits	-	OMIM:127550
26277	TINF2	HP:0001888	Decreased total lymphocyte count	-	OMIM:127550
26277	TINF2	HP:0000555	Leukocoria	-	OMIM:268130
26277	TINF2	HP:0000572	Visual loss	1/1	OMIM:268130
26277	TINF2	HP:0000541	Retinal detachment	HP:0040282	ORPHA:3088
26277	TINF2	HP:0000534	Abnormal eyebrow morphology	HP:0040283	ORPHA:1775
26277	TINF2	HP:0001881	Abnormal leukocyte morphology	HP:0040283	ORPHA:3322
26277	TINF2	HP:0001882	Decreased total leukocyte count	7/12	OMIM:127550
26277	TINF2	HP:0001882	Decreased total leukocyte count	2/2	OMIM:613990
26277	TINF2	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:1775
26277	TINF2	HP:0001873	Thrombocytopenia	11/14	OMIM:613990
26277	TINF2	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:3322
26277	TINF2	HP:0001873	Thrombocytopenia	7/12	OMIM:127550
26277	TINF2	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:1775
26277	TINF2	HP:0001876	Pancytopenia	2/2	OMIM:613990
26277	TINF2	HP:0001875	Decreased total neutrophil count	2/2	OMIM:613990
26277	TINF2	HP:0001875	Decreased total neutrophil count	1/1	OMIM:268130
26278	SACS	HP:0002497	Spastic ataxia	-	OMIM:270550
26278	SACS	HP:0002495	Impaired vibratory sensation	HP:0040283	ORPHA:98
26278	SACS	HP:0002493	Upper motor neuron dysfunction	-	OMIM:270550
26278	SACS	HP:0002460	Distal muscle weakness	-	OMIM:270550
26278	SACS	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:98
26278	SACS	HP:0007240	Progressive gait ataxia	-	OMIM:270550
26278	SACS	HP:0007221	Progressive truncal ataxia	-	OMIM:270550
26278	SACS	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:98
26278	SACS	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98
26278	SACS	HP:0001251	Ataxia	16/16	OMIM:270550
26278	SACS	HP:0001251	Ataxia	HP:0040282	ORPHA:98
26278	SACS	HP:0001249	Intellectual disability	-	OMIM:270550
26278	SACS	HP:0001260	Dysarthria	14/18	OMIM:270550
26278	SACS	HP:0001260	Dysarthria	HP:0040282	ORPHA:98
26278	SACS	HP:0001257	Spasticity	-	OMIM:270550
26278	SACS	HP:0001257	Spasticity	HP:0040282	ORPHA:98
26278	SACS	HP:0007361	Abnormal pons morphology	HP:0040282	ORPHA:98
26278	SACS	HP:0002527	Falls	-	OMIM:270550
26278	SACS	HP:0000020	Urinary incontinence	HP:0040282	ORPHA:98
26278	SACS	HP:0001347	Hyperreflexia	-	OMIM:270550
26278	SACS	HP:0006150	Swan neck-like deformities of the fingers	-	OMIM:270550
26278	SACS	HP:0001324	Muscle weakness	HP:0040282	ORPHA:98
26278	SACS	HP:0000012	Urinary urgency	12/18	OMIM:270550
26278	SACS	HP:0000007	Autosomal recessive inheritance	-	OMIM:270550
26278	SACS	HP:0001310	Dysmetria	HP:0040282	ORPHA:98
26278	SACS	HP:0001310	Dysmetria	-	OMIM:270550
26278	SACS	HP:0001320	Cerebellar vermis hypoplasia	HP:0040282	ORPHA:98
26278	SACS	HP:0002650	Scoliosis	2/18	OMIM:270550
26278	SACS	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:98
26278	SACS	HP:0012104	Parietal cortical atrophy	HP:0040282	ORPHA:98
26278	SACS	HP:0002015	Dysphagia	HP:0040283	ORPHA:98
26278	SACS	HP:0002080	Intention tremor	HP:0040283	ORPHA:98
26278	SACS	HP:0002066	Gait ataxia	HP:0040283	ORPHA:98
26278	SACS	HP:0002064	Spastic gait	13/13	OMIM:270550
26278	SACS	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:98
26278	SACS	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:98
26278	SACS	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:98
26278	SACS	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	-	OMIM:270550
26278	SACS	HP:0003383	Onion bulb formation	-	OMIM:270550
26278	SACS	HP:0003487	Babinski sign	-	OMIM:270550
26278	SACS	HP:0003487	Babinski sign	HP:0040282	ORPHA:98
26278	SACS	HP:0003448	Decreased sensory nerve conduction velocity	-	OMIM:270550
26278	SACS	HP:0003431	Decreased motor nerve conduction velocity	8/10	OMIM:270550
26278	SACS	HP:0003438	Absent Achilles reflex	-	OMIM:270550
26278	SACS	HP:0003438	Absent Achilles reflex	HP:0040283	ORPHA:98
26278	SACS	HP:0011931	Abnormal cerebellar peduncle morphology	HP:0040282	ORPHA:98
26278	SACS	HP:0002168	Scanning speech	-	OMIM:270550
26278	SACS	HP:0002166	Impaired vibration sensation in the lower limbs	-	OMIM:270550
26278	SACS	HP:0003593	Infantile onset	-	OMIM:270550
26278	SACS	HP:0100702	Arachnoid cyst	HP:0040282	ORPHA:98
26278	SACS	HP:0007001	Loss of Purkinje cells in the cerebellar vermis	-	OMIM:270550
26278	SACS	HP:0007083	Hyperactive patellar reflex	18/18	OMIM:270550
26278	SACS	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:98
26278	SACS	HP:0003693	Distal amyotrophy	-	OMIM:270550
26278	SACS	HP:0002317	Unsteady gait	HP:0040282	ORPHA:98
26278	SACS	HP:0010830	Impaired tactile sensation	HP:0040283	ORPHA:98
26278	SACS	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:98
26278	SACS	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:98
26278	SACS	HP:0007108	Demyelinating peripheral neuropathy	HP:0040282	ORPHA:98
26278	SACS	HP:0006855	Cerebellar vermis atrophy	22/22	OMIM:270550
26278	SACS	HP:0000639	Nystagmus	18/18	OMIM:270550
26278	SACS	HP:0009049	Peroneal muscle atrophy	18/18	OMIM:270550
26278	SACS	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:98
26278	SACS	HP:0000802	Impotence	HP:0040284	ORPHA:98
26278	SACS	HP:0000708	Atypical behavior	HP:0040283	ORPHA:98
26278	SACS	HP:0012896	Abnormal motor evoked potentials	HP:0040282	ORPHA:98
26278	SACS	HP:4000169	Pontine T2 hypointensity	8/8	OMIM:270550
26278	SACS	HP:0007772	Impaired smooth pursuit	-	OMIM:270550
26278	SACS	HP:0002936	Distal sensory impairment	-	OMIM:270550
26278	SACS	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:98
26278	SACS	HP:0007922	Hypermyelinated retinal nerve fibers	HP:0040282	ORPHA:98
26278	SACS	HP:0007922	Hypermyelinated retinal nerve fibers	2/18	OMIM:270550
26278	SACS	HP:0007979	Gaze-evoked horizontal nystagmus	HP:0040282	ORPHA:98
26278	SACS	HP:0001765	Hammertoe	-	OMIM:270550
26278	SACS	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:98
26278	SACS	HP:0001761	Pes cavus	8/18	OMIM:270550
26281	FGF20	HP:0010958	Bilateral renal agenesis	4/4	OMIM:615721
26281	FGF20	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1848
26281	FGF20	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:1848
26281	FGF20	HP:0000007	Autosomal recessive inheritance	-	OMIM:615721
26281	FGF20	HP:0000175	Cleft palate	HP:0040283	ORPHA:1848
26281	FGF20	HP:0000104	Renal agenesis	HP:0040281	ORPHA:1848
26281	FGF20	HP:0002009	Potter facies	1/1	OMIM:615721
26281	FGF20	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:1848
26281	FGF20	HP:0002089	Pulmonary hypoplasia	1/1	OMIM:615721
26281	FGF20	HP:0100589	Urogenital fistula	HP:0040282	ORPHA:1848
26281	FGF20	HP:0010497	Sirenomelia	HP:0040283	ORPHA:1848
26281	FGF20	HP:0002242	Abnormal intestine morphology	HP:0040282	ORPHA:1848
26281	FGF20	HP:0001958	Nonketotic hypoglycemia	HP:0040281	ORPHA:1848
26281	FGF20	HP:0030674	Antenatal onset	4/4	OMIM:615721
26281	FGF20	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1848
26281	FGF20	HP:0100335	Non-midline cleft of the upper lip	HP:0040283	ORPHA:1848
26281	FGF20	HP:0000286	Epicanthus	HP:0040281	ORPHA:1848
26281	FGF20	HP:0005107	Abnormal sacrum morphology	HP:0040282	ORPHA:1848
26281	FGF20	HP:0001582	Redundant skin	1/1	OMIM:615721
26281	FGF20	HP:0001562	Oligohydramnios	HP:0040281	ORPHA:1848
26281	FGF20	HP:0001563	Fetal polyuria	HP:0040282	ORPHA:1848
26281	FGF20	HP:0000369	Low-set ears	HP:0040281	ORPHA:1848
26281	FGF20	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1848
26281	FGF20	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:1848
26281	FGF20	HP:0025700	Anhydramnios	4/4	OMIM:615721
26284	ERAL1	HP:0000013	Hypoplasia of the uterus	1/1	OMIM:617565
26284	ERAL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617565
26284	ERAL1	HP:0010464	Streak ovary	1/1	OMIM:617565
26284	ERAL1	HP:0008209	Premature ovarian insufficiency	-	OMIM:617565
26284	ERAL1	HP:0000786	Primary amenorrhea	1/2	OMIM:617565
26284	ERAL1	HP:0000858	Irregular menstruation	-	OMIM:617565
26284	ERAL1	HP:0000869	Secondary amenorrhea	1/2	OMIM:617565
26284	ERAL1	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:617565
26353	HSPB8	HP:0002460	Distal muscle weakness	-	OMIM:608673
26353	HSPB8	HP:0002460	Distal muscle weakness	-	OMIM:158590
26353	HSPB8	HP:0001284	Areflexia	-	OMIM:608673
26353	HSPB8	HP:0001265	Hyporeflexia	-	OMIM:608673
26353	HSPB8	HP:0002522	Areflexia of lower limbs	-	OMIM:158590
26353	HSPB8	HP:0000006	Autosomal dominant inheritance	-	OMIM:608673
26353	HSPB8	HP:0000006	Autosomal dominant inheritance	-	OMIM:158590
26353	HSPB8	HP:0002650	Scoliosis	3/18	OMIM:608673
26353	HSPB8	HP:0002601	Paresis of extensor muscles of the big toe	-	OMIM:158590
26353	HSPB8	HP:0002600	Hyporeflexia of lower limbs	-	OMIM:158590
26353	HSPB8	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	1/1	OMIM:608673
26353	HSPB8	HP:0003477	Peripheral axonal neuropathy	-	OMIM:608673
26353	HSPB8	HP:0003470	Paralysis	-	OMIM:158590
26353	HSPB8	HP:0003444	EMG: chronic denervation signs	-	OMIM:608673
26353	HSPB8	HP:0003445	EMG: neuropathic changes	-	OMIM:158590
26353	HSPB8	HP:0007078	Decreased amplitude of sensory action potentials	6/6	OMIM:608673
26353	HSPB8	HP:0003693	Distal amyotrophy	-	OMIM:608673
26353	HSPB8	HP:0003621	Juvenile onset	-	OMIM:608673
26353	HSPB8	HP:0009053	Distal lower limb muscle weakness	-	OMIM:158590
26353	HSPB8	HP:0011462	Young adult onset	-	OMIM:608673
26353	HSPB8	HP:0002936	Distal sensory impairment	-	OMIM:608673
26353	HSPB8	HP:0001761	Pes cavus	14/18	OMIM:608673
26503	SLC17A5	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
26503	SLC17A5	HP:0001293	Cranial nerve compression	-	OMIM:131300
26503	SLC17A5	HP:0001290	Generalized hypotonia	-	OMIM:604369
26503	SLC17A5	HP:0001290	Generalized hypotonia	-	OMIM:269920
26503	SLC17A5	HP:0001250	Seizure	-	OMIM:604369
26503	SLC17A5	HP:0001250	Seizure	-	OMIM:269920
26503	SLC17A5	HP:0001252	Hypotonia	-	OMIM:604369
26503	SLC17A5	HP:0001252	Hypotonia	-	OMIM:269920
26503	SLC17A5	HP:0001252	Hypotonia	2/7	OMIM:615777
26503	SLC17A5	HP:0001251	Ataxia	-	OMIM:604369
26503	SLC17A5	HP:0001249	Intellectual disability	-	OMIM:604369
26503	SLC17A5	HP:0001249	Intellectual disability	5/7	OMIM:615777
26503	SLC17A5	HP:0001260	Dysarthria	-	OMIM:604369
26503	SLC17A5	HP:0001263	Global developmental delay	-	OMIM:604369
26503	SLC17A5	HP:0001263	Global developmental delay	-	OMIM:269920
26503	SLC17A5	HP:0001263	Global developmental delay	-	OMIM:615777
26503	SLC17A5	HP:0001257	Spasticity	-	OMIM:604369
26503	SLC17A5	HP:0002540	Inability to walk	-	OMIM:604369
26503	SLC17A5	HP:0002515	Waddling gait	54/102	OMIM:131300
26503	SLC17A5	HP:0003819	Death in childhood	-	OMIM:269920
26503	SLC17A5	HP:0001382	Joint hypermobility	-	OMIM:615777
26503	SLC17A5	HP:0002684	Thickened calvaria	-	OMIM:604369
26503	SLC17A5	HP:0002680	J-shaped sella turcica	-	OMIM:269920
26503	SLC17A5	HP:0002694	Sclerosis of skull base	-	OMIM:131300
26503	SLC17A5	HP:0008897	Postnatal growth retardation	-	OMIM:615777
26503	SLC17A5	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
26503	SLC17A5	HP:0001324	Muscle weakness	40/96	OMIM:131300
26503	SLC17A5	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
26503	SLC17A5	HP:0000007	Autosomal recessive inheritance	-	OMIM:604369
26503	SLC17A5	HP:0000007	Autosomal recessive inheritance	-	OMIM:269920
26503	SLC17A5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
26503	SLC17A5	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
26503	SLC17A5	HP:0002650	Scoliosis	12/14	OMIM:131300
26503	SLC17A5	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
26503	SLC17A5	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
26503	SLC17A5	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
26503	SLC17A5	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
26503	SLC17A5	HP:0000175	Cleft palate	2/7	OMIM:615777
26503	SLC17A5	HP:0000100	Nephrotic syndrome	-	OMIM:269920
26503	SLC17A5	HP:0002059	Cerebral atrophy	-	OMIM:269920
26503	SLC17A5	HP:0003388	Easy fatigability	36/76	OMIM:131300
26503	SLC17A5	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
26503	SLC17A5	HP:0002240	Hepatomegaly	-	OMIM:269920
26503	SLC17A5	HP:0002286	Fair hair	-	OMIM:269920
26503	SLC17A5	HP:0003510	Severe short stature	7/7	OMIM:615777
26503	SLC17A5	HP:0001010	Hypopigmentation of the skin	-	OMIM:269920
26503	SLC17A5	HP:0002315	Headache	-	OMIM:131300
26503	SLC17A5	HP:0004976	Knee dislocation	6/7	OMIM:615777
26503	SLC17A5	HP:0009803	Short phalanx of finger	-	OMIM:615777
26503	SLC17A5	HP:0009763	Limb pain	63/92	OMIM:131300
26503	SLC17A5	HP:0002305	Athetosis	-	OMIM:604369
26503	SLC17A5	HP:0003621	Juvenile onset	-	OMIM:131300
26503	SLC17A5	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
26503	SLC17A5	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
26503	SLC17A5	HP:0000639	Nystagmus	-	OMIM:604369
26503	SLC17A5	HP:0000639	Nystagmus	-	OMIM:269920
26503	SLC17A5	HP:6001056	Out-toeing	-	OMIM:131300
26503	SLC17A5	HP:0000651	Diplopia	-	OMIM:131300
26503	SLC17A5	HP:0001956	Truncal obesity	2/7	OMIM:615777
26503	SLC17A5	HP:0001922	Vacuolated lymphocytes	-	OMIM:604369
26503	SLC17A5	HP:0001922	Vacuolated lymphocytes	-	OMIM:269920
26503	SLC17A5	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:604369
26503	SLC17A5	HP:0001903	Anemia	HP:0040283	OMIM:131300
26503	SLC17A5	HP:0010049	Short metacarpal	-	OMIM:615777
26503	SLC17A5	HP:0000678	Dental crowding	-	OMIM:615777
26503	SLC17A5	HP:0000670	Carious teeth	-	OMIM:131300
26503	SLC17A5	HP:0011304	Broad thumb	2/7	OMIM:615777
26503	SLC17A5	HP:0000668	Hypodontia	-	OMIM:615777
26503	SLC17A5	HP:0000664	Synophrys	-	OMIM:615777
26503	SLC17A5	HP:0004396	Poor appetite	-	OMIM:131300
26503	SLC17A5	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
26503	SLC17A5	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
26503	SLC17A5	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
26503	SLC17A5	HP:0003026	Short long bone	7/7	OMIM:615777
26503	SLC17A5	HP:0003025	Metaphyseal irregularity	-	OMIM:269920
26503	SLC17A5	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
26503	SLC17A5	HP:0000767	Pectus excavatum	2/7	OMIM:615777
26503	SLC17A5	HP:0000768	Pectus carinatum	1/7	OMIM:615777
26503	SLC17A5	HP:0000765	Abnormal thorax morphology	-	OMIM:269920
26503	SLC17A5	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
26503	SLC17A5	HP:0000750	Delayed speech and language development	-	OMIM:604369
26503	SLC17A5	HP:0000750	Delayed speech and language development	-	OMIM:615777
26503	SLC17A5	HP:0011461	Fetal onset	7/7	OMIM:615777
26503	SLC17A5	HP:0000774	Narrow chest	2/7	OMIM:615777
26503	SLC17A5	HP:0000926	Platyspondyly	1/7	OMIM:615777
26503	SLC17A5	HP:0003180	Flat acetabular roof	-	OMIM:615777
26503	SLC17A5	HP:0004482	Relative macrocephaly	-	OMIM:615777
26503	SLC17A5	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
26503	SLC17A5	HP:0000823	Delayed puberty	-	OMIM:131300
26503	SLC17A5	HP:0000894	Short clavicles	-	OMIM:615777
26503	SLC17A5	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
26503	SLC17A5	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
26503	SLC17A5	HP:0000938	Osteopenia	-	OMIM:269920
26503	SLC17A5	HP:0000286	Epicanthus	-	OMIM:269920
26503	SLC17A5	HP:0000286	Epicanthus	1/7	OMIM:615777
26503	SLC17A5	HP:0000280	Coarse facial features	2/7	OMIM:615777
26503	SLC17A5	HP:0000280	Coarse facial features	-	OMIM:269920
26503	SLC17A5	HP:0002827	Hip dislocation	3/7	OMIM:615777
26503	SLC17A5	HP:0000238	Hydrocephalus	-	OMIM:269920
26503	SLC17A5	HP:0000252	Microcephaly	-	OMIM:615777
26503	SLC17A5	HP:0000218	High palate	-	OMIM:269920
26503	SLC17A5	HP:0000212	Gingival overgrowth	-	OMIM:269920
26503	SLC17A5	HP:0002857	Genu valgum	-	OMIM:131300
26503	SLC17A5	HP:0001541	Ascites	-	OMIM:269920
26503	SLC17A5	HP:0001533	Slender build	-	OMIM:131300
26503	SLC17A5	HP:0001508	Failure to thrive	-	OMIM:269920
26503	SLC17A5	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
26503	SLC17A5	HP:0001510	Growth delay	-	OMIM:604369
26503	SLC17A5	HP:0007807	Optic nerve compression	-	OMIM:131300
26503	SLC17A5	HP:0012368	Flat face	7/7	OMIM:615777
26503	SLC17A5	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
26503	SLC17A5	HP:0002908	Conjugated hyperbilirubinemia	-	OMIM:269920
26503	SLC17A5	HP:0000365	Hearing impairment	10/67	OMIM:131300
26503	SLC17A5	HP:0000343	Long philtrum	1/7	OMIM:615777
26503	SLC17A5	HP:0011001	Increased bone mineral density	-	OMIM:131300
26503	SLC17A5	HP:0000311	Round face	2/7	OMIM:615777
26503	SLC17A5	HP:0001622	Premature birth	-	OMIM:269920
26503	SLC17A5	HP:0001640	Cardiomegaly	-	OMIM:269920
26503	SLC17A5	HP:0002970	Genu varum	-	OMIM:615777
26503	SLC17A5	HP:0001635	Congestive heart failure	-	OMIM:269920
26503	SLC17A5	HP:0000303	Mandibular prognathia	-	OMIM:131300
26503	SLC17A5	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
26503	SLC17A5	HP:0000463	Anteverted nares	-	OMIM:269920
26503	SLC17A5	HP:0001789	Hydrops fetalis	-	OMIM:269920
26503	SLC17A5	HP:0000470	Short neck	1/7	OMIM:615777
26503	SLC17A5	HP:0001769	Broad foot	HP:0040283	OMIM:615777
26503	SLC17A5	HP:0001763	Pes planus	1/7	OMIM:615777
26503	SLC17A5	HP:0001744	Splenomegaly	-	OMIM:269920
26503	SLC17A5	HP:0001760	Abnormal foot morphology	-	OMIM:269920
26503	SLC17A5	HP:0001840	Metatarsus adductus	-	OMIM:615777
26503	SLC17A5	HP:0000520	Proptosis	2/4	OMIM:131300
26503	SLC17A5	HP:0000520	Proptosis	7/7	OMIM:615777
26503	SLC17A5	HP:0000508	Ptosis	-	OMIM:269920
26503	SLC17A5	HP:0000577	Exotropia	-	OMIM:604369
26503	SLC17A5	HP:0000592	Blue sclerae	2/7	OMIM:615777
26503	SLC17A5	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
26503	SLC17A5	HP:0012514	Lower limb pain	4/4	OMIM:131300
26504	CNNM4	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
26504	CNNM4	HP:0007401	Macular atrophy	3/6	OMIM:217080
26504	CNNM4	HP:0012043	Pendular nystagmus	2/6	OMIM:217080
26504	CNNM4	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
26504	CNNM4	HP:0000007	Autosomal recessive inheritance	-	OMIM:217080
26504	CNNM4	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
26504	CNNM4	HP:0033785	Enamel agenesis	6/6	OMIM:217080
26504	CNNM4	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
26504	CNNM4	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
26504	CNNM4	HP:0006286	Yellow-brown discoloration of the teeth	6/6	OMIM:217080
26504	CNNM4	HP:0003593	Infantile onset	-	OMIM:217080
26504	CNNM4	HP:0008499	High hypermetropia	2/6	OMIM:217080
26504	CNNM4	HP:0003621	Juvenile onset	8/19	OMIM:180100
26504	CNNM4	HP:0000639	Nystagmus	HP:0040281	ORPHA:1873
26504	CNNM4	HP:0000639	Nystagmus	5/6	OMIM:217080
26504	CNNM4	HP:0000648	Optic atrophy	HP:0040282	ORPHA:1873
26504	CNNM4	HP:0000613	Photophobia	HP:0040281	ORPHA:1873
26504	CNNM4	HP:0000613	Photophobia	5/6	OMIM:217080
26504	CNNM4	HP:0000682	Abnormal dental enamel morphology	HP:0040281	ORPHA:1873
26504	CNNM4	HP:0000662	Nyctalopia	3/6	OMIM:217080
26504	CNNM4	HP:0000662	Nyctalopia	26/28	OMIM:180100
26504	CNNM4	HP:0000670	Carious teeth	5/6	OMIM:217080
26504	CNNM4	HP:0000705	Amelogenesis imperfecta	HP:0040281	ORPHA:1873
26504	CNNM4	HP:0011463	Childhood onset	3/19	OMIM:180100
26504	CNNM4	HP:0011462	Young adult onset	8/19	OMIM:180100
26504	CNNM4	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1873
26504	CNNM4	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
26504	CNNM4	HP:0007737	Bone spicule pigmentation of the retina	1/6	OMIM:217080
26504	CNNM4	HP:0007843	Attenuation of retinal blood vessels	3/6	OMIM:217080
26504	CNNM4	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
26504	CNNM4	HP:0007814	Retinal pigment epithelial mottling	2/6	OMIM:217080
26504	CNNM4	HP:0007803	Monochromacy	-	OMIM:217080
26504	CNNM4	HP:0011073	Abnormality of dental color	HP:0040281	ORPHA:1873
26504	CNNM4	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
26504	CNNM4	HP:0000505	Visual impairment	HP:0040281	ORPHA:1873
26504	CNNM4	HP:0000505	Visual impairment	6/6	OMIM:217080
26504	CNNM4	HP:0000575	Scotoma	5/18	OMIM:180100
26504	CNNM4	HP:0000575	Scotoma	1/6	OMIM:217080
26504	CNNM4	HP:0000551	Color vision defect	HP:0040281	ORPHA:1873
26504	CNNM4	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:217080
26504	CNNM4	HP:0000543	Optic disc pallor	2/6	OMIM:217080
26504	CNNM4	HP:0000543	Optic disc pallor	1/1	OMIM:180100
26504	CNNM4	HP:0000545	Myopia	-	OMIM:180100
26509	MYOF	HP:0000006	Autosomal dominant inheritance	-	OMIM:619366
26509	MYOF	HP:0031244	Swollen lip	3/3	OMIM:619366
26509	MYOF	HP:0033250	Nailfold capillary tortuosity	-	OMIM:619366
26509	MYOF	HP:0100665	Angioedema	3/3	OMIM:619366
26509	MYOF	HP:0000282	Facial edema	3/3	OMIM:619366
26509	MYOF	HP:0030254	Nail bed hemorrhage	-	OMIM:619366
26511	CHIC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:601626
26511	CHIC2	HP:0001442	Typified by somatic mosaicism	-	OMIM:601626
26511	CHIC2	HP:0004808	Acute myeloid leukemia	-	OMIM:601626
26523	AGO1	HP:0001270	Motor delay	28/30	OMIM:620292
26523	AGO1	HP:0001250	Seizure	14/29	OMIM:620292
26523	AGO1	HP:0001252	Hypotonia	15/20	OMIM:620292
26523	AGO1	HP:0001249	Intellectual disability	1/1	OMIM:620292
26523	AGO1	HP:0001263	Global developmental delay	34/34	OMIM:620292
26523	AGO1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620292
26523	AGO1	HP:0002020	Gastroesophageal reflux	3/23	OMIM:620292
26523	AGO1	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:620292
26523	AGO1	HP:0002133	Status epilepticus	1/1	OMIM:620292
26523	AGO1	HP:0003593	Infantile onset	1/1	OMIM:620292
26523	AGO1	HP:0007018	Attention deficit hyperactivity disorder	15/22	OMIM:620292
26523	AGO1	HP:0011968	Feeding difficulties	10/23	OMIM:620292
26523	AGO1	HP:0003502	Mild short stature	1/1	OMIM:620292
26523	AGO1	HP:0002384	Focal impaired awareness seizure	1/1	OMIM:620292
26523	AGO1	HP:0002360	Sleep abnormality	18/23	OMIM:620292
26523	AGO1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/1	OMIM:620292
26523	AGO1	HP:0002342	Intellectual disability, moderate	2/2	OMIM:620292
26523	AGO1	HP:0031936	Delayed ability to walk	1/1	OMIM:620292
26523	AGO1	HP:0000752	Hyperactivity	1/1	OMIM:620292
26523	AGO1	HP:0000739	Anxiety	7/8	OMIM:620292
26523	AGO1	HP:0000733	Motor stereotypy	1/1	OMIM:620292
26523	AGO1	HP:0000750	Delayed speech and language development	32/32	OMIM:620292
26523	AGO1	HP:0000718	Aggressive behavior	11/24	OMIM:620292
26523	AGO1	HP:0000729	Autistic behavior	24/30	OMIM:620292
26523	AGO1	HP:0003196	Short nose	-	OMIM:620292
26523	AGO1	HP:0000286	Epicanthus	1/1	OMIM:620292
26523	AGO1	HP:0000219	Thin upper lip vermilion	-	OMIM:620292
26523	AGO1	HP:0007874	Almond-shaped palpebral fissure	-	OMIM:620292
26523	AGO1	HP:0000348	High forehead	-	OMIM:620292
26523	AGO1	HP:0000311	Round face	1/1	OMIM:620292
26523	AGO1	HP:0031627	Globus pallidus calcification	1/1	OMIM:620292
26523	AGO1	HP:0000400	Macrotia	1/1	OMIM:620292
26523	AGO1	HP:0000486	Strabismus	4/26	OMIM:620292
26523	AGO1	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:620292
26523	AGO1	HP:0000414	Bulbous nose	1/1	OMIM:620292
26523	AGO1	HP:0000431	Wide nasal bridge	1/1	OMIM:620292
26523	AGO1	HP:0000506	Telecanthus	1/1	OMIM:620292
26525	IL36RN	HP:0003765	Psoriasiform dermatitis	14/14	OMIM:614204
26525	IL36RN	HP:0100806	Sepsis	HP:0040284	ORPHA:247353
26525	IL36RN	HP:0025252	Geographic tongue	4/16	OMIM:614204
26525	IL36RN	HP:0025252	Geographic tongue	HP:0040282	ORPHA:247353
26525	IL36RN	HP:0100825	Cheilitis	HP:0040282	ORPHA:247353
26525	IL36RN	HP:0100847	Palmoplantar pustulosis	HP:0040283	ORPHA:247353
26525	IL36RN	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:247353
26525	IL36RN	HP:0001369	Arthritis	HP:0040282	ORPHA:247353
26525	IL36RN	HP:0000007	Autosomal recessive inheritance	-	OMIM:614204
26525	IL36RN	HP:0025474	Erythematous plaque	HP:0040280	ORPHA:247353
26525	IL36RN	HP:0040313	Oligoarthritis	3/30	OMIM:614204
26525	IL36RN	HP:0011897	Increased total neutrophil count	14/14	OMIM:614204
26525	IL36RN	HP:0003593	Infantile onset	2/14	OMIM:614204
26525	IL36RN	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040280	ORPHA:247353
26525	IL36RN	HP:0008404	Nail dystrophy	4/16	OMIM:614204
26525	IL36RN	HP:0001036	Parakeratosis	8/8	OMIM:614204
26525	IL36RN	HP:0001019	Erythroderma	HP:0040281	ORPHA:247353
26525	IL36RN	HP:0025092	Epidermal acanthosis	8/8	OMIM:614204
26525	IL36RN	HP:0200039	Pustule	-	OMIM:614204
26525	IL36RN	HP:0200039	Pustule	HP:0040280	ORPHA:247353
26525	IL36RN	HP:0010783	Erythema	-	OMIM:614204
26525	IL36RN	HP:0010741	Pedal edema	HP:0040283	ORPHA:247353
26525	IL36RN	HP:0003623	Neonatal onset	3/14	OMIM:614204
26525	IL36RN	HP:0003621	Juvenile onset	2/14	OMIM:614204
26525	IL36RN	HP:0001974	Increased total leukocyte count	16/16	OMIM:614204
26525	IL36RN	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:247353
26525	IL36RN	HP:0001945	Fever	HP:0040282	ORPHA:247353
26525	IL36RN	HP:0001945	Fever	-	OMIM:614204
26525	IL36RN	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:247353
26525	IL36RN	HP:0011463	Childhood onset	4/14	OMIM:614204
26525	IL36RN	HP:0011462	Young adult onset	3/14	OMIM:614204
26525	IL36RN	HP:0005764	Polyarticular arthritis	2/14	OMIM:614204
26525	IL36RN	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:247353
26525	IL36RN	HP:0002829	Arthralgia	HP:0040280	ORPHA:247353
26525	IL36RN	HP:0000221	Furrowed tongue	4/16	OMIM:614204
26525	IL36RN	HP:0025502	Overweight	HP:0040282	ORPHA:247353
26525	IL36RN	HP:0001513	Obesity	HP:0040283	ORPHA:247353
26525	IL36RN	HP:0012378	Fatigue	HP:0040282	ORPHA:247353
26525	IL36RN	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:247353
26525	IL36RN	HP:0002902	Hyponatremia	HP:0040283	ORPHA:247353
26525	IL36RN	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:247353
26525	IL36RN	HP:0030151	Cholangitis	3/16	OMIM:614204
26525	IL36RN	HP:0001635	Congestive heart failure	HP:0040284	ORPHA:247353
26525	IL36RN	HP:0011227	Elevated circulating C-reactive protein concentration	30/30	OMIM:614204
26525	IL36RN	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:247353
26525	IL36RN	HP:0001888	Decreased total lymphocyte count	HP:0040283	ORPHA:247353
26525	IL36RN	HP:0000554	Uveitis	HP:0040284	ORPHA:247353
26525	IL36RN	HP:0012531	Pain	HP:0040281	ORPHA:247353
26576	SRPK3	HP:0002451	Limb dystonia	1/4	OMIM:301134
26576	SRPK3	HP:0010864	Intellectual disability, severe	2/8	OMIM:301134
26576	SRPK3	HP:0003701	Proximal muscle weakness	1/4	OMIM:301134
26576	SRPK3	HP:0001272	Cerebellar atrophy	1/1	OMIM:301134
26576	SRPK3	HP:0001274	Agenesis of corpus callosum	1/1	OMIM:301134
26576	SRPK3	HP:0001270	Motor delay	5/6	OMIM:301134
26576	SRPK3	HP:0001256	Intellectual disability, mild	0/8	OMIM:301134
26576	SRPK3	HP:0001252	Hypotonia	1/4	OMIM:301134
26576	SRPK3	HP:0001251	Ataxia	2/4	OMIM:301134
26576	SRPK3	HP:0001263	Global developmental delay	7/7	OMIM:301134
26576	SRPK3	HP:0001344	Absent speech	1/7	OMIM:301134
26576	SRPK3	HP:0001338	Partial agenesis of the corpus callosum	3/4	OMIM:301134
26576	SRPK3	HP:0001417	X-linked inheritance	-	OMIM:301134
26576	SRPK3	HP:0003593	Infantile onset	6/8	OMIM:301134
26576	SRPK3	HP:0002280	Enlarged cisterna magna	1/5	OMIM:301134
26576	SRPK3	HP:0002342	Intellectual disability, moderate	4/8	OMIM:301134
26576	SRPK3	HP:0002321	Vertigo	2/4	OMIM:301134
26576	SRPK3	HP:0006889	Intellectual disability, borderline	2/8	OMIM:301134
26576	SRPK3	HP:0006956	Lateral ventricle dilatation	4/5	OMIM:301134
26576	SRPK3	HP:0034198	Second trimester onset	1/8	OMIM:301134
26576	SRPK3	HP:0000736	Short attention span	2/3	OMIM:301134
26576	SRPK3	HP:0000750	Delayed speech and language development	4/4	OMIM:301134
26576	SRPK3	HP:0000712	Emotional lability	1/3	OMIM:301134
26576	SRPK3	HP:0011462	Young adult onset	1/8	OMIM:301134
26576	SRPK3	HP:0034295	Reduced cerebral white matter volume	3/4	OMIM:301134
26576	SRPK3	HP:0000256	Macrocephaly	1/9	OMIM:301134
26576	SRPK3	HP:0030048	Colpocephaly	2/4	OMIM:301134
26576	SRPK3	HP:0000486	Strabismus	1/6	OMIM:301134
26576	SRPK3	HP:0011220	Prominent forehead	1/9	OMIM:301134
26580	BSCL2	HP:0001176	Large hands	-	OMIM:269700
26580	BSCL2	HP:0001171	Split hand	1/1	OMIM:270685
26580	BSCL2	HP:0001171	Split hand	HP:0040283	ORPHA:100998
26580	BSCL2	HP:0025128	Reduced intraabdominal adipose tissue	HP:0040281	ORPHA:363400
26580	BSCL2	HP:0025128	Reduced intraabdominal adipose tissue	-	OMIM:269700
26580	BSCL2	HP:0002495	Impaired vibratory sensation	HP:0040282	ORPHA:139536
26580	BSCL2	HP:0002460	Distal muscle weakness	1/1	OMIM:270685
26580	BSCL2	HP:0002451	Limb dystonia	HP:0040283	ORPHA:363400
26580	BSCL2	HP:0002448	Progressive encephalopathy	HP:0040280	ORPHA:363400
26580	BSCL2	HP:0007272	Progressive psychomotor deterioration	HP:0040281	ORPHA:363400
26580	BSCL2	HP:0007256	Abnormal pyramidal sign	-	OMIM:615924
26580	BSCL2	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:363400
26580	BSCL2	HP:0010875	Chaddock reflex	3/3	OMIM:619112
26580	BSCL2	HP:0003758	Reduced subcutaneous adipose tissue	4/4	OMIM:269700
26580	BSCL2	HP:0003758	Reduced subcutaneous adipose tissue	HP:0040281	ORPHA:363400
26580	BSCL2	HP:0003716	Generalized muscular appearance from birth	-	OMIM:269700
26580	BSCL2	HP:0001298	Encephalopathy	-	OMIM:615924
26580	BSCL2	HP:0001268	Mental deterioration	-	OMIM:615924
26580	BSCL2	HP:0001288	Gait disturbance	-	OMIM:619112
26580	BSCL2	HP:0001256	Intellectual disability, mild	-	OMIM:269700
26580	BSCL2	HP:0001250	Seizure	HP:0040282	ORPHA:363400
26580	BSCL2	HP:0001250	Seizure	-	OMIM:615924
26580	BSCL2	HP:0001251	Ataxia	HP:0040282	ORPHA:363400
26580	BSCL2	HP:0001251	Ataxia	-	OMIM:615924
26580	BSCL2	HP:0002591	Polyphagia	-	OMIM:269700
26580	BSCL2	HP:0001258	Spastic paraplegia	1/1	OMIM:270685
26580	BSCL2	HP:0001257	Spasticity	-	OMIM:615924
26580	BSCL2	HP:0001257	Spasticity	HP:0040282	ORPHA:363400
26580	BSCL2	HP:0007340	Lower limb muscle weakness	-	OMIM:270685
26580	BSCL2	HP:0008665	Clitoral hypertrophy	-	OMIM:269700
26580	BSCL2	HP:0002529	Neuronal loss in central nervous system	HP:0040283	ORPHA:363400
26580	BSCL2	HP:0002529	Neuronal loss in central nervous system	-	OMIM:615924
26580	BSCL2	HP:0003809	Reduced intrathoracic adipose tissue	-	OMIM:269700
26580	BSCL2	HP:0000098	Tall stature	-	OMIM:269700
26580	BSCL2	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:363400
26580	BSCL2	HP:0001397	Hepatic steatosis	2/4	OMIM:269700
26580	BSCL2	HP:0000065	Labial hypertrophy	-	OMIM:269700
26580	BSCL2	HP:0001394	Cirrhosis	HP:0040283	ORPHA:363400
26580	BSCL2	HP:0001394	Cirrhosis	-	OMIM:269700
26580	BSCL2	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:363400
26580	BSCL2	HP:0001347	Hyperreflexia	1/1	OMIM:270685
26580	BSCL2	HP:0001347	Hyperreflexia	-	OMIM:615924
26580	BSCL2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:100998
26580	BSCL2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:139536
26580	BSCL2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:363400
26580	BSCL2	HP:0001332	Dystonia	-	OMIM:615924
26580	BSCL2	HP:0000007	Autosomal recessive inheritance	-	OMIM:269700
26580	BSCL2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615924
26580	BSCL2	HP:0001337	Tremor	-	OMIM:615924
26580	BSCL2	HP:0001337	Tremor	HP:0040282	ORPHA:363400
26580	BSCL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:270685
26580	BSCL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619112
26580	BSCL2	HP:0001336	Myoclonus	-	OMIM:615924
26580	BSCL2	HP:0001336	Myoclonus	HP:0040282	ORPHA:363400
26580	BSCL2	HP:0000144	Decreased fertility	-	OMIM:269700
26580	BSCL2	HP:0000147	Polycystic ovaries	-	OMIM:269700
26580	BSCL2	HP:0008944	Distal lower limb amyotrophy	-	OMIM:619112
26580	BSCL2	HP:0001436	Abnormality of the foot musculature	HP:0040282	ORPHA:100998
26580	BSCL2	HP:0005978	Type II diabetes mellitus	3/4	OMIM:269700
26580	BSCL2	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:363400
26580	BSCL2	HP:0002066	Gait ataxia	HP:0040283	ORPHA:363400
26580	BSCL2	HP:0002064	Spastic gait	-	OMIM:270685
26580	BSCL2	HP:0002064	Spastic gait	HP:0040282	ORPHA:100998
26580	BSCL2	HP:0003392	First dorsal interossei muscle weakness	HP:0040282	ORPHA:139536
26580	BSCL2	HP:0003392	First dorsal interossei muscle weakness	-	OMIM:270685
26580	BSCL2	HP:0002061	Lower limb spasticity	-	OMIM:270685
26580	BSCL2	HP:0003393	Thenar muscle atrophy	-	OMIM:619112
26580	BSCL2	HP:0003393	Thenar muscle atrophy	HP:0040282	ORPHA:139536
26580	BSCL2	HP:0003393	Thenar muscle atrophy	-	OMIM:270685
26580	BSCL2	HP:0002059	Cerebral atrophy	-	OMIM:615924
26580	BSCL2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:363400
26580	BSCL2	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:363400
26580	BSCL2	HP:0002155	Hypertriglyceridemia	HP:0040283	OMIM:615924
26580	BSCL2	HP:0002155	Hypertriglyceridemia	2/4	OMIM:269700
26580	BSCL2	HP:0003487	Babinski sign	3/3	OMIM:619112
26580	BSCL2	HP:0003487	Babinski sign	1/1	OMIM:270685
26580	BSCL2	HP:0003487	Babinski sign	HP:0040282	ORPHA:100998
26580	BSCL2	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:139536
26580	BSCL2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:363400
26580	BSCL2	HP:0003431	Decreased motor nerve conduction velocity	1/1	OMIM:270685
26580	BSCL2	HP:0003426	First dorsal interossei muscle atrophy	HP:0040282	ORPHA:139536
26580	BSCL2	HP:0003426	First dorsal interossei muscle atrophy	-	OMIM:270685
26580	BSCL2	HP:0003427	Thenar muscle weakness	HP:0040282	ORPHA:139536
26580	BSCL2	HP:0003427	Thenar muscle weakness	-	OMIM:270685
26580	BSCL2	HP:0003435	Cold-induced hand cramps	HP:0040282	ORPHA:139536
26580	BSCL2	HP:0002166	Impaired vibration sensation in the lower limbs	-	OMIM:270685
26580	BSCL2	HP:0002174	Postural tremor	1/1	OMIM:270685
26580	BSCL2	HP:0002174	Postural tremor	HP:0040283	ORPHA:100998
26580	BSCL2	HP:0002275	Poor motor coordination	HP:0040282	ORPHA:363400
26580	BSCL2	HP:0002273	Tetraparesis	HP:0040283	ORPHA:363400
26580	BSCL2	HP:0002273	Tetraparesis	-	OMIM:615924
26580	BSCL2	HP:0003577	Congenital onset	-	OMIM:269700
26580	BSCL2	HP:0002240	Hepatomegaly	HP:0040283	OMIM:615924
26580	BSCL2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:363400
26580	BSCL2	HP:0002240	Hepatomegaly	-	OMIM:269700
26580	BSCL2	HP:0003581	Adult onset	1/3	OMIM:619112
26580	BSCL2	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:363400
26580	BSCL2	HP:0033383	Decreased compound muscle action potential amplitude	3/3	OMIM:619112
26580	BSCL2	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:139536
26580	BSCL2	HP:0003693	Distal amyotrophy	1/1	OMIM:270685
26580	BSCL2	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:100998
26580	BSCL2	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:363400
26580	BSCL2	HP:0002359	Frequent falls	-	OMIM:619112
26580	BSCL2	HP:0002376	Developmental regression	-	OMIM:615924
26580	BSCL2	HP:0002371	Loss of speech	-	OMIM:615924
26580	BSCL2	HP:0003676	Progressive	-	OMIM:615924
26580	BSCL2	HP:0002340	Caudate atrophy	HP:0040283	ORPHA:363400
26580	BSCL2	HP:0001007	Hirsutism	-	OMIM:269700
26580	BSCL2	HP:0003677	Slowly progressive	-	OMIM:270685
26580	BSCL2	HP:0002317	Unsteady gait	HP:0040282	ORPHA:139536
26580	BSCL2	HP:0003621	Juvenile onset	2/3	OMIM:619112
26580	BSCL2	HP:0003621	Juvenile onset	1/1	OMIM:270685
26580	BSCL2	HP:0007178	Motor polyneuropathy	HP:0040282	ORPHA:139536
26580	BSCL2	HP:0006858	Impaired distal proprioception	1/1	OMIM:270685
26580	BSCL2	HP:0009064	Generalized lipodystrophy	HP:0040281	ORPHA:363400
26580	BSCL2	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:139536
26580	BSCL2	HP:0009053	Distal lower limb muscle weakness	-	OMIM:619112
26580	BSCL2	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:100998
26580	BSCL2	HP:0006937	Impaired distal tactile sensation	1/1	OMIM:270685
26580	BSCL2	HP:0005616	Accelerated skeletal maturation	-	OMIM:269700
26580	BSCL2	HP:0000752	Hyperactivity	-	OMIM:615924
26580	BSCL2	HP:0000752	Hyperactivity	HP:0040283	ORPHA:363400
26580	BSCL2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:363400
26580	BSCL2	HP:0000750	Delayed speech and language development	-	OMIM:615924
26580	BSCL2	HP:0009130	Hand muscle atrophy	HP:0040282	ORPHA:100998
26580	BSCL2	HP:0009125	Lipodystrophy	-	OMIM:269700
26580	BSCL2	HP:0000787	Nephrolithiasis	-	OMIM:269700
26580	BSCL2	HP:0003198	Myopathy	HP:0040283	ORPHA:363400
26580	BSCL2	HP:0000877	Insulin-resistant diabetes mellitus at puberty	-	OMIM:269700
26580	BSCL2	HP:0000855	Insulin resistance	HP:0040281	ORPHA:363400
26580	BSCL2	HP:0000868	Decreased fertility in females	-	OMIM:269700
26580	BSCL2	HP:0000842	Hyperinsulinemia	-	OMIM:269700
26580	BSCL2	HP:0000842	Hyperinsulinemia	HP:0040281	ORPHA:363400
26580	BSCL2	HP:0000822	Hypertension	HP:0040283	ORPHA:363400
26580	BSCL2	HP:0040217	Elevated hemoglobin A1c	4/4	OMIM:269700
26580	BSCL2	HP:0003292	Decreased serum leptin	-	OMIM:269700
26580	BSCL2	HP:0030839	Knee pain	HP:0040283	ORPHA:100998
26580	BSCL2	HP:0030838	Hip pain	HP:0040283	ORPHA:100998
26580	BSCL2	HP:0000956	Acanthosis nigricans	4/4	OMIM:269700
26580	BSCL2	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:363400
26580	BSCL2	HP:0040131	Abnormal motor nerve conduction velocity	HP:0040284	ORPHA:139536
26580	BSCL2	HP:0040131	Abnormal motor nerve conduction velocity	HP:0040283	ORPHA:100998
26580	BSCL2	HP:0008081	Pes valgus	HP:0040283	ORPHA:139536
26580	BSCL2	HP:0000280	Coarse facial features	HP:0040282	ORPHA:363400
26580	BSCL2	HP:0005144	Ventricular septal hypertrophy	-	OMIM:269700
26580	BSCL2	HP:0002878	Respiratory failure	HP:0040283	ORPHA:363400
26580	BSCL2	HP:0001544	Prominent umbilicus	-	OMIM:269700
26580	BSCL2	HP:0001537	Umbilical hernia	-	OMIM:269700
26580	BSCL2	HP:0031374	Ankle weakness	HP:0040283	ORPHA:100998
26580	BSCL2	HP:0002833	Cystic angiomatosis of bone	-	OMIM:269700
26580	BSCL2	HP:0002936	Distal sensory impairment	HP:0040283	ORPHA:100998
26580	BSCL2	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:269700
26580	BSCL2	HP:0000325	Triangular face	-	OMIM:269700
26580	BSCL2	HP:0001620	Abnormally high-pitched voice	-	OMIM:269700
26580	BSCL2	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:269700
26580	BSCL2	HP:0000303	Mandibular prognathia	-	OMIM:269700
26580	BSCL2	HP:0001735	Acute pancreatitis	-	OMIM:269700
26580	BSCL2	HP:0000400	Macrotia	-	OMIM:269700
26580	BSCL2	HP:0030237	Hand muscle weakness	HP:0040283	ORPHA:100998
26580	BSCL2	HP:0001763	Pes planus	HP:0040283	ORPHA:100998
26580	BSCL2	HP:0001765	Hammertoe	HP:0040283	ORPHA:139536
26580	BSCL2	HP:0001744	Splenomegaly	-	OMIM:269700
26580	BSCL2	HP:0001761	Pes cavus	-	OMIM:619112
26580	BSCL2	HP:0001761	Pes cavus	1/1	OMIM:270685
26580	BSCL2	HP:0001761	Pes cavus	HP:0040283	ORPHA:139536
26580	BSCL2	HP:0001833	Long foot	-	OMIM:269700
26585	GREM1	HP:0002576	Intussusception	HP:0040283	OMIM:174900
26585	GREM1	HP:0002576	Intussusception	HP:0040283	ORPHA:157794
26585	GREM1	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
26585	GREM1	HP:0002573	Hematochezia	HP:0040281	ORPHA:157794
26585	GREM1	HP:0100896	Rectal polyposis	HP:0040282	ORPHA:157794
26585	GREM1	HP:0007378	Neoplasm of the gastrointestinal tract	HP:0040282	ORPHA:157794
26585	GREM1	HP:0001217	Clubbing	HP:0040283	OMIM:174900
26585	GREM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
26585	GREM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
26585	GREM1	HP:0012198	Juvenile colonic polyposis	HP:0040282	ORPHA:157794
26585	GREM1	HP:0012183	Hyperplastic colonic polyposis	HP:0040281	ORPHA:157794
26585	GREM1	HP:0012125	Prostate cancer	HP:0040284	ORPHA:157794
26585	GREM1	HP:0012114	Endometrial carcinoma	HP:0040284	ORPHA:157794
26585	GREM1	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
26585	GREM1	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
26585	GREM1	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
26585	GREM1	HP:0040276	Adenocarcinoma of the colon	HP:0040283	ORPHA:157794
26585	GREM1	HP:0100743	Neoplasm of the rectum	HP:0040283	ORPHA:157794
26585	GREM1	HP:0200063	Colorectal polyposis	HP:0040282	ORPHA:157794
26585	GREM1	HP:0005505	Refractory anemia	HP:0040282	ORPHA:157794
26585	GREM1	HP:0001903	Anemia	HP:0040282	OMIM:174900
26585	GREM1	HP:0003003	Colon cancer	20%	OMIM:174900
26585	GREM1	HP:0003003	Colon cancer	HP:0040282	ORPHA:157794
26585	GREM1	HP:0003003	Colon cancer	5/12	OMIM:608456
26585	GREM1	HP:0003073	Hypoalbuminemia	-	OMIM:174900
26585	GREM1	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
26585	GREM1	HP:0100245	Gastrointestinal desmoid tumor	HP:0040284	ORPHA:157794
26585	GREM1	HP:0002890	Thyroid carcinoma	HP:0040284	ORPHA:157794
26585	GREM1	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
26585	GREM1	HP:0005227	Adenomatous colonic polyposis	HP:0040282	ORPHA:157794
26585	GREM1	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
26585	GREM1	HP:0002900	Hypokalemia	-	OMIM:174900
26585	GREM1	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
26585	GREM1	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
26585	GREM1	HP:0006771	Duodenal adenocarcinoma	HP:0040284	ORPHA:157794
26585	GREM1	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:157794
26608	TBL2	HP:0001181	Adducted thumb	HP:0040283	ORPHA:904
26608	TBL2	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:904
26608	TBL2	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:904
26608	TBL2	HP:0001297	Stroke	HP:0040282	ORPHA:904
26608	TBL2	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:904
26608	TBL2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:904
26608	TBL2	HP:0001252	Hypotonia	HP:0040282	ORPHA:904
26608	TBL2	HP:0001251	Ataxia	HP:0040281	ORPHA:904
26608	TBL2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:904
26608	TBL2	HP:0001260	Dysarthria	HP:0040283	ORPHA:904
26608	TBL2	HP:0001257	Spasticity	HP:0040282	ORPHA:904
26608	TBL2	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:904
26608	TBL2	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:904
26608	TBL2	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:904
26608	TBL2	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040283	ORPHA:904
26608	TBL2	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:904
26608	TBL2	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:904
26608	TBL2	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:904
26608	TBL2	HP:0000093	Proteinuria	HP:0040282	ORPHA:904
26608	TBL2	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:904
26608	TBL2	HP:0000075	Renal duplication	HP:0040283	ORPHA:904
26608	TBL2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:904
26608	TBL2	HP:0001387	Joint stiffness	HP:0040282	ORPHA:904
26608	TBL2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:904
26608	TBL2	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:904
26608	TBL2	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:904
26608	TBL2	HP:0000014	Abnormality of the bladder	HP:0040282	ORPHA:904
26608	TBL2	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:904
26608	TBL2	HP:0001361	Nystagmus-induced head nodding	HP:0040282	ORPHA:904
26608	TBL2	HP:0000025	Functional abnormality of male internal genitalia	HP:0040283	ORPHA:904
26608	TBL2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:904
26608	TBL2	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:904
26608	TBL2	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:904
26608	TBL2	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:904
26608	TBL2	HP:0001337	Tremor	HP:0040281	ORPHA:904
26608	TBL2	HP:0001310	Dysmetria	HP:0040281	ORPHA:904
26608	TBL2	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:904
26608	TBL2	HP:0002650	Scoliosis	HP:0040283	ORPHA:904
26608	TBL2	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:904
26608	TBL2	HP:0002623	Overriding aorta	HP:0040283	ORPHA:904
26608	TBL2	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:904
26608	TBL2	HP:0000158	Macroglossia	HP:0040281	ORPHA:904
26608	TBL2	HP:0000154	Wide mouth	HP:0040281	ORPHA:904
26608	TBL2	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:904
26608	TBL2	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:904
26608	TBL2	HP:0000125	Pelvic kidney	HP:0040282	ORPHA:904
26608	TBL2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:904
26608	TBL2	HP:0002024	Malabsorption	HP:0040283	ORPHA:904
26608	TBL2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:904
26608	TBL2	HP:0002019	Constipation	HP:0040282	ORPHA:904
26608	TBL2	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:904
26608	TBL2	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:904
26608	TBL2	HP:0002027	Abdominal pain	HP:0040281	ORPHA:904
26608	TBL2	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:904
26608	TBL2	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:904
26608	TBL2	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:904
26608	TBL2	HP:0100539	Periorbital edema	HP:0040281	ORPHA:904
26608	TBL2	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:904
26608	TBL2	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:904
26608	TBL2	HP:0002141	Gait imbalance	HP:0040281	ORPHA:904
26608	TBL2	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:904
26608	TBL2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:904
26608	TBL2	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:904
26608	TBL2	HP:0002183	Phonophobia	HP:0040281	ORPHA:904
26608	TBL2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:904
26608	TBL2	HP:0010526	Dysgraphia	HP:0040281	ORPHA:904
26608	TBL2	HP:0002253	Colonic diverticula	HP:0040282	ORPHA:904
26608	TBL2	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:904
26608	TBL2	HP:0100785	Insomnia	HP:0040282	ORPHA:904
26608	TBL2	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:904
26608	TBL2	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:904
26608	TBL2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:904
26608	TBL2	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:904
26608	TBL2	HP:0002376	Developmental regression	HP:0040283	ORPHA:904
26608	TBL2	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:904
26608	TBL2	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:904
26608	TBL2	HP:0010807	Open bite	HP:0040281	ORPHA:904
26608	TBL2	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:904
26608	TBL2	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:904
26608	TBL2	HP:0008499	High hypermetropia	HP:0040281	ORPHA:904
26608	TBL2	HP:0010780	Hyperacusis	HP:0040281	ORPHA:904
26608	TBL2	HP:0002308	Chiari malformation	HP:0040283	ORPHA:904
26608	TBL2	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:904
26608	TBL2	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:904
26608	TBL2	HP:0004295	Abnormal gastric mucosa morphology	HP:0040283	ORPHA:904
26608	TBL2	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:904
26608	TBL2	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040283	ORPHA:904
26608	TBL2	HP:0000635	Blue irides	HP:0040283	ORPHA:904
26608	TBL2	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:904
26608	TBL2	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:904
26608	TBL2	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:904
26608	TBL2	HP:0000691	Microdontia	HP:0040282	ORPHA:904
26608	TBL2	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:904
26608	TBL2	HP:0000670	Carious teeth	HP:0040283	ORPHA:904
26608	TBL2	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:904
26608	TBL2	HP:0000668	Hypodontia	HP:0040282	ORPHA:904
26608	TBL2	HP:0004322	Short stature	HP:0040281	ORPHA:904
26608	TBL2	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:904
26608	TBL2	HP:0004305	Involuntary movements	HP:0040281	ORPHA:904
26608	TBL2	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:904
26608	TBL2	HP:0004381	Supravalvular aortic stenosis	HP:0040282	ORPHA:904
26608	TBL2	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:904
26608	TBL2	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:904
26608	TBL2	HP:0100025	Overfriendliness	HP:0040281	ORPHA:904
26608	TBL2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:904
26608	TBL2	HP:0000739	Anxiety	HP:0040281	ORPHA:904
26608	TBL2	HP:0000716	Depression	HP:0040281	ORPHA:904
26608	TBL2	HP:0000717	Autism	HP:0040282	ORPHA:904
26608	TBL2	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:904
26608	TBL2	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:904
26608	TBL2	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:904
26608	TBL2	HP:0004428	Elfin facies	HP:0040281	ORPHA:904
26608	TBL2	HP:0003198	Myopathy	HP:0040283	ORPHA:904
26608	TBL2	HP:0003196	Short nose	HP:0040281	ORPHA:904
26608	TBL2	HP:0000826	Precocious puberty	HP:0040283	ORPHA:904
26608	TBL2	HP:0000822	Hypertension	HP:0040282	ORPHA:904
26608	TBL2	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:904
26608	TBL2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:904
26608	TBL2	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:904
26608	TBL2	HP:0000960	Sacral dimple	HP:0040282	ORPHA:904
26608	TBL2	HP:0000939	Osteoporosis	HP:0040283	ORPHA:904
26608	TBL2	HP:0000938	Osteopenia	HP:0040283	ORPHA:904
26608	TBL2	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:904
26608	TBL2	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:904
26608	TBL2	HP:0007720	Flat cornea	HP:0040283	ORPHA:904
26608	TBL2	HP:0000286	Epicanthus	HP:0040281	ORPHA:904
26608	TBL2	HP:0000280	Coarse facial features	HP:0040281	ORPHA:904
26608	TBL2	HP:0000275	Narrow face	HP:0040281	ORPHA:904
26608	TBL2	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:904
26608	TBL2	HP:0002829	Arthralgia	HP:0040282	ORPHA:904
26608	TBL2	HP:0002808	Kyphosis	HP:0040282	ORPHA:904
26608	TBL2	HP:0000252	Microcephaly	HP:0040282	ORPHA:904
26608	TBL2	HP:0001582	Redundant skin	HP:0040282	ORPHA:904
26608	TBL2	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:904
26608	TBL2	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:904
26608	TBL2	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:904
26608	TBL2	HP:0002857	Genu valgum	HP:0040282	ORPHA:904
26608	TBL2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:904
26608	TBL2	HP:0001513	Obesity	HP:0040282	ORPHA:904
26608	TBL2	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:904
26608	TBL2	HP:0001609	Hoarse voice	HP:0040281	ORPHA:904
26608	TBL2	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:904
26608	TBL2	HP:0001618	Dysphonia	HP:0040283	ORPHA:904
26608	TBL2	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:904
26608	TBL2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:904
26608	TBL2	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:904
26608	TBL2	HP:0000343	Long philtrum	HP:0040281	ORPHA:904
26608	TBL2	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:904
26608	TBL2	HP:0000337	Broad forehead	HP:0040281	ORPHA:904
26608	TBL2	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:904
26608	TBL2	HP:0000348	High forehead	HP:0040281	ORPHA:904
26608	TBL2	HP:0000347	Micrognathia	HP:0040281	ORPHA:904
26608	TBL2	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:904
26608	TBL2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:904
26608	TBL2	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:904
26608	TBL2	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:904
26608	TBL2	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:904
26608	TBL2	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:904
26608	TBL2	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:904
26608	TBL2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:904
26608	TBL2	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:904
26608	TBL2	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:904
26608	TBL2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:904
26608	TBL2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:904
26608	TBL2	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:904
26608	TBL2	HP:0000307	Pointed chin	HP:0040281	ORPHA:904
26608	TBL2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:904
26608	TBL2	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:904
26608	TBL2	HP:0007957	Corneal opacity	HP:0040283	ORPHA:904
26608	TBL2	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:904
26608	TBL2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:904
26608	TBL2	HP:0000400	Macrotia	HP:0040281	ORPHA:904
26608	TBL2	HP:0000486	Strabismus	HP:0040282	ORPHA:904
26608	TBL2	HP:0000485	Megalocornea	HP:0040283	ORPHA:904
26608	TBL2	HP:0000464	Abnormality of the neck	HP:0040281	ORPHA:904
26608	TBL2	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:904
26608	TBL2	HP:0001763	Pes planus	HP:0040282	ORPHA:904
26608	TBL2	HP:0000411	Protruding ear	HP:0040281	ORPHA:904
26608	TBL2	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:904
26608	TBL2	HP:0000518	Cataract	HP:0040283	ORPHA:904
26608	TBL2	HP:0001822	Hallux valgus	HP:0040282	ORPHA:904
26608	TBL2	HP:0000505	Visual impairment	HP:0040282	ORPHA:904
26608	TBL2	HP:0000501	Glaucoma	HP:0040283	ORPHA:904
26608	TBL2	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:904
26608	TBL2	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:904
26608	TBL2	HP:0000545	Myopia	HP:0040283	ORPHA:904
26610	ELP4	HP:0001132	Lens subluxation	1/5	OMIM:617141
26610	ELP4	HP:0000006	Autosomal dominant inheritance	-	OMIM:617141
26610	ELP4	HP:0003577	Congenital onset	5/5	OMIM:617141
26610	ELP4	HP:0000646	Amblyopia	2/5	OMIM:617141
26610	ELP4	HP:0000648	Optic atrophy	2/5	OMIM:617141
26610	ELP4	HP:0000612	Iris coloboma	3/5	OMIM:617141
26610	ELP4	HP:0000518	Cataract	2/5	OMIM:617141
26610	ELP4	HP:0000526	Aniridia	2/5	OMIM:617141
26834	RNU4-2	HP:0001182	Tapered finger	2/49	OMIM:620851
26834	RNU4-2	HP:0001181	Adducted thumb	1/49	OMIM:620851
26834	RNU4-2	HP:0001166	Arachnodactyly	1/50	OMIM:620851
26834	RNU4-2	HP:0007302	Bipolar affective disorder	1/49	OMIM:620851
26834	RNU4-2	HP:0410170	Hippocampal atrophy	3/45	OMIM:620851
26834	RNU4-2	HP:0020206	Simple ear	1/40	OMIM:620851
26834	RNU4-2	HP:0010864	Intellectual disability, severe	4/5	OMIM:620851
26834	RNU4-2	HP:0001298	Encephalopathy	0/49	OMIM:620851
26834	RNU4-2	HP:0001270	Motor delay	11/11	OMIM:620851
26834	RNU4-2	HP:0001288	Gait disturbance	15/15	OMIM:620851
26834	RNU4-2	HP:0001250	Seizure	45/60	OMIM:620851
26834	RNU4-2	HP:0001252	Hypotonia	42/48	OMIM:620851
26834	RNU4-2	HP:0001251	Ataxia	1/49	OMIM:620851
26834	RNU4-2	HP:0001249	Intellectual disability	48/48	OMIM:620851
26834	RNU4-2	HP:0001264	Spastic diplegia	2/49	OMIM:620851
26834	RNU4-2	HP:0001266	Choreoathetosis	1/49	OMIM:620851
26834	RNU4-2	HP:0001263	Global developmental delay	16/16	OMIM:620851
26834	RNU4-2	HP:0001257	Spasticity	1/10	OMIM:620851
26834	RNU4-2	HP:0033715	Hippocampal sclerosis	0/45	OMIM:620851
26834	RNU4-2	HP:0032388	Periventricular nodular heterotopia	1/45	OMIM:620851
26834	RNU4-2	HP:0031061	Impaired toileting ability	10/11	OMIM:620851
26834	RNU4-2	HP:0002540	Inability to walk	6/37	OMIM:620851
26834	RNU4-2	HP:0002539	Cortical dysplasia	0/45	OMIM:620851
26834	RNU4-2	HP:0002527	Falls	0/49	OMIM:620851
26834	RNU4-2	HP:0002500	Abnormal cerebral white matter morphology	1/1	OMIM:620851
26834	RNU4-2	HP:0000023	Inguinal hernia	2/11	OMIM:620851
26834	RNU4-2	HP:0006191	Deep palmar crease	1/49	OMIM:620851
26834	RNU4-2	HP:0001332	Dystonia	1/49	OMIM:620851
26834	RNU4-2	HP:0033725	Thin corpus callosum	4/4	OMIM:620851
26834	RNU4-2	HP:0001344	Absent speech	49/59	OMIM:620851
26834	RNU4-2	HP:0001339	Lissencephaly	1/45	OMIM:620851
26834	RNU4-2	HP:0001334	Communicating hydrocephalus	2/45	OMIM:620851
26834	RNU4-2	HP:0000006	Autosomal dominant inheritance	-	OMIM:620851
26834	RNU4-2	HP:0002650	Scoliosis	5/11	OMIM:620851
26834	RNU4-2	HP:0000189	Narrow palate	7/11	OMIM:620851
26834	RNU4-2	HP:0012169	Self-biting	11/48	OMIM:620851
26834	RNU4-2	HP:0000179	Thick lower lip vermilion	2/49	OMIM:620851
26834	RNU4-2	HP:0000194	Open mouth	13/20	OMIM:620851
26834	RNU4-2	HP:0000193	Bifid uvula	1/40	OMIM:620851
26834	RNU4-2	HP:0000160	Narrow mouth	2/50	OMIM:620851
26834	RNU4-2	HP:0000158	Macroglossia	5/50	OMIM:620851
26834	RNU4-2	HP:0000154	Wide mouth	1/49	OMIM:620851
26834	RNU4-2	HP:0001483	Eye poking	1/45	OMIM:620851
26834	RNU4-2	HP:0007651	Ectropion of lower eyelids	8/50	OMIM:620851
26834	RNU4-2	HP:0007655	Eversion of lateral third of lower eyelids	1/49	OMIM:620851
26834	RNU4-2	HP:0002714	Downturned corners of mouth	2/50	OMIM:620851
26834	RNU4-2	HP:0002020	Gastroesophageal reflux	26/55	OMIM:620851
26834	RNU4-2	HP:0002019	Constipation	35/55	OMIM:620851
26834	RNU4-2	HP:0002002	Deep philtrum	1/50	OMIM:620851
26834	RNU4-2	HP:0002015	Dysphagia	2/49	OMIM:620851
26834	RNU4-2	HP:0002079	Hypoplasia of the corpus callosum	9/55	OMIM:620851
26834	RNU4-2	HP:0002059	Cerebral atrophy	1/1	OMIM:620851
26834	RNU4-2	HP:0034454	Arachnoid granulation	3/45	OMIM:620851
26834	RNU4-2	HP:0034494	Opacified paranasal sinuses	2/45	OMIM:620851
26834	RNU4-2	HP:0002119	Ventriculomegaly	8/55	OMIM:620851
26834	RNU4-2	HP:0002136	Broad-based gait	1/49	OMIM:620851
26834	RNU4-2	HP:0002188	Delayed CNS myelination	4/57	OMIM:620851
26834	RNU4-2	HP:0002194	Delayed gross motor development	0/1	OMIM:620851
26834	RNU4-2	HP:0002169	Clonus	3/49	OMIM:620851
26834	RNU4-2	HP:0002171	Gliosis	12/12	OMIM:620851
26834	RNU4-2	HP:0011856	Pica	2/49	OMIM:620851
26834	RNU4-2	HP:0011825	Tented philtrum	21/52	OMIM:620851
26834	RNU4-2	HP:0100702	Arachnoid cyst	2/45	OMIM:620851
26834	RNU4-2	HP:0100716	Self-injurious behavior	1/1	OMIM:620851
26834	RNU4-2	HP:0009739	Hypoplasia of the antihelix	1/50	OMIM:620851
26834	RNU4-2	HP:0002283	Global brain atrophy	1/56	OMIM:620851
26834	RNU4-2	HP:0002282	Gray matter heterotopia	1/1	OMIM:620851
26834	RNU4-2	HP:0002280	Enlarged cisterna magna	9/46	OMIM:620851
26834	RNU4-2	HP:0002292	Frontal balding	1/49	OMIM:620851
26834	RNU4-2	HP:0200096	Triangular-shaped open mouth	1/40	OMIM:620851
26834	RNU4-2	HP:0007002	Motor axonal neuropathy	3/49	OMIM:620851
26834	RNU4-2	HP:0011968	Feeding difficulties	23/25	OMIM:620851
26834	RNU4-2	HP:0002389	Cavum septum pellucidum	1/45	OMIM:620851
26834	RNU4-2	HP:0001048	Cavernous hemangioma	1/45	OMIM:620851
26834	RNU4-2	HP:0002360	Sleep abnormality	5/60	OMIM:620851
26834	RNU4-2	HP:0002376	Developmental regression	0/11	OMIM:620851
26834	RNU4-2	HP:0002342	Intellectual disability, moderate	1/5	OMIM:620851
26834	RNU4-2	HP:0002317	Unsteady gait	6/50	OMIM:620851
26834	RNU4-2	HP:0010804	Tented upper lip vermilion	11/20	OMIM:620851
26834	RNU4-2	HP:0010808	Protruding tongue	3/50	OMIM:620851
26834	RNU4-2	HP:0010806	U-Shaped upper lip vermilion	1/49	OMIM:620851
26834	RNU4-2	HP:0001090	Abnormally large globe	3/50	OMIM:620851
26834	RNU4-2	HP:0007165	Periventricular heterotopia	2/6	OMIM:620851
26834	RNU4-2	HP:0033454	Tube feeding	15/53	OMIM:620851
26834	RNU4-2	HP:0010782	Shoulder dimple	1/10	OMIM:620851
26834	RNU4-2	HP:0009765	Low hanging columella	3/49	OMIM:620851
26834	RNU4-2	HP:0002308	Chiari malformation	1/45	OMIM:620851
26834	RNU4-2	HP:0002307	Drooling	15/60	OMIM:620851
26834	RNU4-2	HP:0004938	Tortuous cerebral arteries	2/10	OMIM:620851
26834	RNU4-2	HP:4000079	Sensory seeking	1/1	OMIM:620851
26834	RNU4-2	HP:0000639	Nystagmus	25/51	OMIM:620851
26834	RNU4-2	HP:0000618	Blindness	1/49	OMIM:620851
26834	RNU4-2	HP:0000609	Optic nerve hypoplasia	8/37	OMIM:620851
26834	RNU4-2	HP:0000601	Hypotelorism	3/20	OMIM:620851
26834	RNU4-2	HP:0011344	Severe global developmental delay	35/45	OMIM:620851
26834	RNU4-2	HP:0012683	Pineal cyst	2/45	OMIM:620851
26834	RNU4-2	HP:0011343	Moderate global developmental delay	10/45	OMIM:620851
26834	RNU4-2	HP:0011342	Mild global developmental delay	0/45	OMIM:620851
26834	RNU4-2	HP:0000692	Tooth malposition	2/41	OMIM:620851
26834	RNU4-2	HP:0004322	Short stature	38/50	OMIM:620851
26834	RNU4-2	HP:0006970	Periventricular leukomalacia	1/45	OMIM:620851
26834	RNU4-2	HP:0031936	Delayed ability to walk	46/47	OMIM:620851
26834	RNU4-2	HP:0100021	Cerebral palsy	9/50	OMIM:620851
26834	RNU4-2	HP:0000767	Pectus excavatum	0/11	OMIM:620851
26834	RNU4-2	HP:0000768	Pectus carinatum	2/11	OMIM:620851
26834	RNU4-2	HP:0000737	Irritability	4/60	OMIM:620851
26834	RNU4-2	HP:0000739	Anxiety	2/2	OMIM:620851
26834	RNU4-2	HP:0000733	Motor stereotypy	11/16	OMIM:620851
26834	RNU4-2	HP:0000736	Short attention span	10/11	OMIM:620851
26834	RNU4-2	HP:0000750	Delayed speech and language development	9/9	OMIM:620851
26834	RNU4-2	HP:0000718	Aggressive behavior	3/60	OMIM:620851
26834	RNU4-2	HP:0000710	Hyperorality	0/49	OMIM:620851
26834	RNU4-2	HP:0000729	Autistic behavior	18/60	OMIM:620851
26834	RNU4-2	HP:0000722	Compulsive behaviors	1/49	OMIM:620851
26834	RNU4-2	HP:0011461	Fetal onset	1/1	OMIM:620851
26834	RNU4-2	HP:0011451	Primary microcephaly	20/39	OMIM:620851
26834	RNU4-2	HP:0030799	Scaphocephaly	1/49	OMIM:620851
26834	RNU4-2	HP:0003196	Short nose	1/49	OMIM:620851
26834	RNU4-2	HP:0003186	Inverted nipples	1/50	OMIM:620851
26834	RNU4-2	HP:0034295	Reduced cerebral white matter volume	4/45	OMIM:620851
26834	RNU4-2	HP:0000879	Short sternum	6/50	OMIM:620851
26834	RNU4-2	HP:0000873	Diabetes insipidus	12/53	OMIM:620851
26834	RNU4-2	HP:0000821	Hypothyroidism	2/33	OMIM:620851
26834	RNU4-2	HP:0040019	Finger clinodactyly	1/49	OMIM:620851
26834	RNU4-2	HP:0040080	Anteverted ears	1/49	OMIM:620851
26834	RNU4-2	HP:0030890	Hyperintensity of cerebral white matter on MRI	1/45	OMIM:620851
26834	RNU4-2	HP:0034397	Claw toe deformity	1/11	OMIM:620851
26834	RNU4-2	HP:0030822	Hooded upper eyelid	0/40	OMIM:620851
26834	RNU4-2	HP:6000029	Social anxiety	2/49	OMIM:620851
26834	RNU4-2	HP:0034323	Reduced circulating growth hormone concentration	11/33	OMIM:620851
26834	RNU4-2	HP:0000954	Single transverse palmar crease	11/61	OMIM:620851
26834	RNU4-2	HP:0000939	Osteoporosis	1/3	OMIM:620851
26834	RNU4-2	HP:0045025	Narrow palpebral fissure	1/49	OMIM:620851
26834	RNU4-2	HP:0000286	Epicanthus	13/20	OMIM:620851
26834	RNU4-2	HP:0000278	Retrognathia	6/49	OMIM:620851
26834	RNU4-2	HP:0000297	Facial hypotonia	9/20	OMIM:620851
26834	RNU4-2	HP:0000293	Full cheeks	5/50	OMIM:620851
26834	RNU4-2	HP:0000276	Long face	5/50	OMIM:620851
26834	RNU4-2	HP:0000253	Progressive microcephaly	10/11	OMIM:620851
26834	RNU4-2	HP:0000252	Microcephaly	9/9	OMIM:620851
26834	RNU4-2	HP:0000248	Brachycephaly	2/49	OMIM:620851
26834	RNU4-2	HP:0000219	Thin upper lip vermilion	1/50	OMIM:620851
26834	RNU4-2	HP:0000218	High palate	10/20	OMIM:620851
26834	RNU4-2	HP:0000232	Everted lower lip vermilion	0/49	OMIM:620851
26834	RNU4-2	HP:0001555	Asymmetry of the thorax	2/11	OMIM:620851
26834	RNU4-2	HP:0002871	Central apnea	1/1	OMIM:620851
26834	RNU4-2	HP:0001537	Umbilical hernia	2/11	OMIM:620851
26834	RNU4-2	HP:0001508	Failure to thrive	37/54	OMIM:620851
26834	RNU4-2	HP:0002837	Recurrent bronchitis	4/11	OMIM:620851
26834	RNU4-2	HP:0030048	Colpocephaly	2/10	OMIM:620851
26834	RNU4-2	HP:0001511	Intrauterine growth retardation	17/44	OMIM:620851
26834	RNU4-2	HP:0000385	Small earlobe	12/60	OMIM:620851
26834	RNU4-2	HP:0012368	Flat face	1/49	OMIM:620851
26834	RNU4-2	HP:0000378	Cupped ear	3/49	OMIM:620851
26834	RNU4-2	HP:0000396	Overfolded helix	5/49	OMIM:620851
26834	RNU4-2	HP:0007874	Almond-shaped palpebral fissure	4/50	OMIM:620851
26834	RNU4-2	HP:0006532	Recurrent pneumonia	4/11	OMIM:620851
26834	RNU4-2	HP:0000365	Hearing impairment	9/45	OMIM:620851
26834	RNU4-2	HP:0000358	Posteriorly rotated ears	1/49	OMIM:620851
26834	RNU4-2	HP:0031432	Restricted or repetitive behaviors or interests	1/1	OMIM:620851
26834	RNU4-2	HP:0000369	Low-set ears	5/20	OMIM:620851
26834	RNU4-2	HP:0000341	Narrow forehead	5/60	OMIM:620851
26834	RNU4-2	HP:0000340	Sloping forehead	2/50	OMIM:620851
26834	RNU4-2	HP:0001680	Coarctation of aorta	1/11	OMIM:620851
26834	RNU4-2	HP:0000348	High forehead	5/61	OMIM:620851
26834	RNU4-2	HP:0000347	Micrognathia	3/50	OMIM:620851
26834	RNU4-2	HP:0000319	Smooth philtrum	2/50	OMIM:620851
26834	RNU4-2	HP:0000316	Hypertelorism	1/49	OMIM:620851
26834	RNU4-2	HP:0000331	Short chin	2/49	OMIM:620851
26834	RNU4-2	HP:0000322	Short philtrum	4/49	OMIM:620851
26834	RNU4-2	HP:0000325	Triangular face	8/51	OMIM:620851
26834	RNU4-2	HP:0000324	Facial asymmetry	1/49	OMIM:620851
26834	RNU4-2	HP:0001629	Ventricular septal defect	1/11	OMIM:620851
26834	RNU4-2	HP:0000403	Recurrent otitis media	2/11	OMIM:620851
26834	RNU4-2	HP:0000400	Macrotia	3/49	OMIM:620851
26834	RNU4-2	HP:0005280	Depressed nasal bridge	10/60	OMIM:620851
26834	RNU4-2	HP:0000483	Astigmatism	5/11	OMIM:620851
26834	RNU4-2	HP:0000486	Strabismus	32/56	OMIM:620851
26834	RNU4-2	HP:0012471	Thick vermilion border	14/21	OMIM:620851
26834	RNU4-2	HP:0000494	Downslanted palpebral fissures	1/50	OMIM:620851
26834	RNU4-2	HP:0000490	Deeply set eye	3/61	OMIM:620851
26834	RNU4-2	HP:0000463	Anteverted nares	4/49	OMIM:620851
26834	RNU4-2	HP:0000460	Narrow nose	2/50	OMIM:620851
26834	RNU4-2	HP:0012444	Brain atrophy	2/2	OMIM:620851
26834	RNU4-2	HP:0012446	Decreased CSF 5-methyltetrahydrofolate concentration	2/49	OMIM:620851
26834	RNU4-2	HP:0000455	Broad nasal tip	7/61	OMIM:620851
26834	RNU4-2	HP:0000456	Bifid nasal tip	1/20	OMIM:620851
26834	RNU4-2	HP:0000472	Long neck	1/49	OMIM:620851
26834	RNU4-2	HP:0000474	Thickened nuchal skin fold	1/11	OMIM:620851
26834	RNU4-2	HP:0000470	Short neck	1/49	OMIM:620851
26834	RNU4-2	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	5/10	OMIM:620851
26834	RNU4-2	HP:0001763	Pes planus	1/11	OMIM:620851
26834	RNU4-2	HP:0000414	Bulbous nose	2/50	OMIM:620851
26834	RNU4-2	HP:0000411	Protruding ear	1/50	OMIM:620851
26834	RNU4-2	HP:0000431	Wide nasal bridge	1/50	OMIM:620851
26834	RNU4-2	HP:0000430	Underdeveloped nasal alae	1/49	OMIM:620851
26834	RNU4-2	HP:0000426	Prominent nasal bridge	2/50	OMIM:620851
26834	RNU4-2	HP:0005487	Prominent metopic ridge	1/50	OMIM:620851
26834	RNU4-2	HP:0005484	Secondary microcephaly	8/39	OMIM:620851
26834	RNU4-2	HP:0005469	Flat occiput	1/50	OMIM:620851
26834	RNU4-2	HP:0012506	Small pituitary gland	2/45	OMIM:620851
26834	RNU4-2	HP:0000527	Long eyelashes	4/50	OMIM:620851
26834	RNU4-2	HP:0000506	Telecanthus	1/49	OMIM:620851
26834	RNU4-2	HP:0001816	Thin nail	2/21	OMIM:620851
26834	RNU4-2	HP:0000582	Upslanted palpebral fissure	1/41	OMIM:620851
26834	RNU4-2	HP:0000581	Blepharophimosis	15/52	OMIM:620851
26834	RNU4-2	HP:0000592	Blue sclerae	9/61	OMIM:620851
26834	RNU4-2	HP:0011228	Horizontal eyebrow	1/20	OMIM:620851
26834	RNU4-2	HP:0000540	Hypermetropia	3/11	OMIM:620851
26834	RNU4-2	HP:0012531	Pain	1/49	OMIM:620851
26834	RNU4-2	HP:0000545	Myopia	2/11	OMIM:620851
26873	OPLAH	HP:0008672	Calcium oxalate nephrolithiasis	-	OMIM:260005
26873	OPLAH	HP:0000007	Autosomal recessive inheritance	-	OMIM:260005
26873	OPLAH	HP:0000006	Autosomal dominant inheritance	-	OMIM:260005
26873	OPLAH	HP:0410132	Increased level of L-pyroglutamic acid in urine	-	OMIM:260005
26873	OPLAH	HP:0002027	Abdominal pain	-	OMIM:260005
26873	OPLAH	HP:0002014	Diarrhea	-	OMIM:260005
26873	OPLAH	HP:0002013	Vomiting	-	OMIM:260005
26873	OPLAH	HP:0004387	Enterocolitis	-	OMIM:260005
26873	OPLAH	HP:0003137	Prolinuria	-	OMIM:260005
26873	OPLAH	HP:0040142	Reduced circulating 5-oxoprolinase activity	-	OMIM:260005
26960	NBEA	HP:0001250	Seizure	15/24	OMIM:619157
26960	NBEA	HP:0001252	Hypotonia	8/24	OMIM:619157
26960	NBEA	HP:0001263	Global developmental delay	24/24	OMIM:619157
26960	NBEA	HP:0007359	Focal-onset seizure	5/24	OMIM:619157
26960	NBEA	HP:0001332	Dystonia	3/24	OMIM:619157
26960	NBEA	HP:0000006	Autosomal dominant inheritance	-	OMIM:619157
26960	NBEA	HP:0002719	Recurrent infections	2/24	OMIM:619157
26960	NBEA	HP:0002069	Bilateral tonic-clonic seizure	12/24	OMIM:619157
26960	NBEA	HP:0002121	Generalized non-motor (absence) seizure	5/24	OMIM:619157
26960	NBEA	HP:0002136	Broad-based gait	6/24	OMIM:619157
26960	NBEA	HP:0003593	Infantile onset	-	OMIM:619157
26960	NBEA	HP:0007018	Attention deficit hyperactivity disorder	4/24	OMIM:619157
26960	NBEA	HP:0002376	Developmental regression	2/24	OMIM:619157
26960	NBEA	HP:0031936	Delayed ability to walk	8/22	OMIM:619157
26960	NBEA	HP:0000750	Delayed speech and language development	24/24	OMIM:619157
26960	NBEA	HP:0000718	Aggressive behavior	4/24	OMIM:619157
26960	NBEA	HP:0000729	Autistic behavior	12/24	OMIM:619157
26960	NBEA	HP:0011463	Childhood onset	-	OMIM:619157
26960	NBEA	HP:0000964	Eczematoid dermatitis	3/24	OMIM:619157
26960	NBEA	HP:0000252	Microcephaly	3/24	OMIM:619157
26960	NBEA	HP:0032794	Myoclonic seizure	7/24	OMIM:619157
26960	NBEA	HP:0011182	Interictal epileptiform activity	9/24	OMIM:619157
26999	CYFIP2	HP:0010851	EEG with burst suppression	3/4	OMIM:618008
26999	CYFIP2	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
26999	CYFIP2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
26999	CYFIP2	HP:0001290	Generalized hypotonia	3/4	OMIM:618008
26999	CYFIP2	HP:0001272	Cerebellar atrophy	-	OMIM:618008
26999	CYFIP2	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0001250	Seizure	HP:0040282	ORPHA:442835
26999	CYFIP2	HP:0001250	Seizure	4/4	OMIM:618008
26999	CYFIP2	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
26999	CYFIP2	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
26999	CYFIP2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
26999	CYFIP2	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0001257	Spasticity	1/4	OMIM:618008
26999	CYFIP2	HP:0002553	Highly arched eyebrow	2/4	OMIM:618008
26999	CYFIP2	HP:0002521	Hypsarrhythmia	2/4	OMIM:618008
26999	CYFIP2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
26999	CYFIP2	HP:0001347	Hyperreflexia	2/4	OMIM:618008
26999	CYFIP2	HP:0001357	Plagiocephaly	1/4	OMIM:618008
26999	CYFIP2	HP:0001344	Absent speech	4/4	OMIM:618008
26999	CYFIP2	HP:0001337	Tremor	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618008
26999	CYFIP2	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0002059	Cerebral atrophy	-	OMIM:618008
26999	CYFIP2	HP:0002119	Ventriculomegaly	-	OMIM:618008
26999	CYFIP2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
26999	CYFIP2	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0200134	Epileptic encephalopathy	-	OMIM:618008
26999	CYFIP2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
26999	CYFIP2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
26999	CYFIP2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0010804	Tented upper lip vermilion	1/4	OMIM:618008
26999	CYFIP2	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
26999	CYFIP2	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0004322	Short stature	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
26999	CYFIP2	HP:0000717	Autism	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
26999	CYFIP2	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0000252	Microcephaly	3/4	OMIM:618008
26999	CYFIP2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
26999	CYFIP2	HP:0000348	High forehead	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
26999	CYFIP2	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
26999	CYFIP2	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
26999	CYFIP2	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
27010	TPK1	HP:0002490	Increased CSF lactate	2/5	OMIM:614458
27010	TPK1	HP:0020221	Clonic seizure	1/5	OMIM:614458
27010	TPK1	HP:0001298	Encephalopathy	1/5	OMIM:614458
27010	TPK1	HP:0001288	Gait disturbance	3/10	OMIM:614458
27010	TPK1	HP:0001250	Seizure	1/5	OMIM:614458
27010	TPK1	HP:0001252	Hypotonia	1/5	OMIM:614458
27010	TPK1	HP:0001251	Ataxia	-	OMIM:614458
27010	TPK1	HP:0001260	Dysarthria	1/5	OMIM:614458
27010	TPK1	HP:0001263	Global developmental delay	2/5	OMIM:614458
27010	TPK1	HP:0001257	Spasticity	2/5	OMIM:614458
27010	TPK1	HP:0001332	Dystonia	3/5	OMIM:614458
27010	TPK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614458
27010	TPK1	HP:0002080	Intention tremor	1/5	OMIM:614458
27010	TPK1	HP:0002066	Gait ataxia	1/5	OMIM:614458
27010	TPK1	HP:0002061	Lower limb spasticity	1/5	OMIM:614458
27010	TPK1	HP:0002078	Truncal ataxia	1/5	OMIM:614458
27010	TPK1	HP:0002151	Increased circulating lactate concentration	2/5	OMIM:614458
27010	TPK1	HP:0002131	Episodic ataxia	2/5	OMIM:614458
27010	TPK1	HP:0003593	Infantile onset	2/5	OMIM:614458
27010	TPK1	HP:0002283	Global brain atrophy	1/5	OMIM:614458
27010	TPK1	HP:0002376	Developmental regression	1/5	OMIM:614458
27010	TPK1	HP:0002371	Loss of speech	1/5	OMIM:614458
27010	TPK1	HP:0002321	Vertigo	-	OMIM:614458
27010	TPK1	HP:0000639	Nystagmus	1/5	OMIM:614458
27010	TPK1	HP:0000602	Ophthalmoplegia	1/5	OMIM:614458
27010	TPK1	HP:0000750	Delayed speech and language development	1/5	OMIM:614458
27010	TPK1	HP:0011463	Childhood onset	3/5	OMIM:614458
27010	TPK1	HP:0003128	Lactic acidosis	3/5	OMIM:614458
27010	TPK1	HP:0000252	Microcephaly	1/5	OMIM:614458
27010	TPK1	HP:0001618	Dysphonia	1/5	OMIM:614458
27010	TPK1	HP:0001712	Left ventricular hypertrophy	1/5	OMIM:614458
27010	TPK1	HP:0012402	Increased urine alpha-ketoglutarate concentration	4/5	OMIM:614458
27019	DNAI1	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
27019	DNAI1	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
27019	DNAI1	HP:0001217	Clubbing	HP:0040283	ORPHA:244
27019	DNAI1	HP:0002688	Absent frontal sinuses	-	OMIM:244400
27019	DNAI1	HP:0000007	Autosomal recessive inheritance	-	OMIM:244400
27019	DNAI1	HP:0001334	Communicating hydrocephalus	-	OMIM:244400
27019	DNAI1	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
27019	DNAI1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
27019	DNAI1	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
27019	DNAI1	HP:0031245	Productive cough	HP:0040282	ORPHA:244
27019	DNAI1	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
27019	DNAI1	HP:0002090	Pneumonia	-	OMIM:244400
27019	DNAI1	HP:0100582	Nasal polyposis	-	OMIM:244400
27019	DNAI1	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
27019	DNAI1	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
27019	DNAI1	HP:0002110	Bronchiectasis	-	OMIM:244400
27019	DNAI1	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
27019	DNAI1	HP:0008222	Female infertility	HP:0040283	ORPHA:244
27019	DNAI1	HP:0002257	Chronic rhinitis	-	OMIM:244400
27019	DNAI1	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
27019	DNAI1	HP:0100750	Atelectasis	1/1	OMIM:244400
27019	DNAI1	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
27019	DNAI1	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
27019	DNAI1	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
27019	DNAI1	HP:0002315	Headache	-	OMIM:244400
27019	DNAI1	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
27019	DNAI1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
27019	DNAI1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
27019	DNAI1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
27019	DNAI1	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
27019	DNAI1	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
27019	DNAI1	HP:0030828	Wheezing	HP:0040283	ORPHA:244
27019	DNAI1	HP:0003251	Male infertility	-	OMIM:244400
27019	DNAI1	HP:0003251	Male infertility	HP:0040282	ORPHA:244
27019	DNAI1	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
27019	DNAI1	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
27019	DNAI1	HP:0012265	Ciliary dyskinesia	-	OMIM:244400
27019	DNAI1	HP:0012263	Immotile cilia	1/1	OMIM:244400
27019	DNAI1	HP:0012256	Absent outer dynein arms	1/1	OMIM:244400
27019	DNAI1	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
27019	DNAI1	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
27019	DNAI1	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
27019	DNAI1	HP:0002837	Recurrent bronchitis	1/1	OMIM:244400
27019	DNAI1	HP:0000389	Chronic otitis media	1/1	OMIM:244400
27019	DNAI1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
27019	DNAI1	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
27019	DNAI1	HP:0001696	Situs inversus totalis	-	OMIM:244400
27019	DNAI1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
27019	DNAI1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
27019	DNAI1	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
27019	DNAI1	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
27019	DNAI1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
27019	DNAI1	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
27019	DNAI1	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
27019	DNAI1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
27019	DNAI1	HP:0000405	Conductive hearing impairment	-	OMIM:244400
27019	DNAI1	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
27019	DNAI1	HP:0000481	Abnormal cornea morphology	-	OMIM:244400
27019	DNAI1	HP:0000458	Anosmia	-	OMIM:244400
27019	DNAI1	HP:0011109	Chronic sinusitis	1/1	OMIM:244400
27019	DNAI1	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
27019	DNAI1	HP:0001746	Asplenia	-	OMIM:244400
27019	DNAI1	HP:0001746	Asplenia	HP:0040284	ORPHA:244
27019	DNAI1	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
27019	DNAI1	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
27019	DNAI1	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
27019	DNAI1	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
27019	DNAI1	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
27022	FOXD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:607836
27022	FOXD3	HP:0001045	Vitiligo	13/14	OMIM:607836
27022	FOXD3	HP:0003621	Juvenile onset	-	OMIM:607836
27022	FOXD3	HP:0000872	Hashimoto thyroiditis	7/14	OMIM:607836
27030	MLH3	HP:0002576	Intussusception	HP:0040283	OMIM:174900
27030	MLH3	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
27030	MLH3	HP:0001217	Clubbing	HP:0040283	OMIM:174900
27030	MLH3	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
27030	MLH3	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
27030	MLH3	HP:0000006	Autosomal dominant inheritance	-	OMIM:608089
27030	MLH3	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
27030	MLH3	HP:0000006	Autosomal dominant inheritance	-	OMIM:614385
27030	MLH3	HP:0012114	Endometrial carcinoma	-	OMIM:608089
27030	MLH3	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
27030	MLH3	HP:0001442	Typified by somatic mosaicism	-	OMIM:608089
27030	MLH3	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
27030	MLH3	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
27030	MLH3	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
27030	MLH3	HP:0005584	Renal cell carcinoma	-	OMIM:114500
27030	MLH3	HP:0001903	Anemia	HP:0040282	OMIM:174900
27030	MLH3	HP:0003003	Colon cancer	20%	OMIM:174900
27030	MLH3	HP:0003003	Colon cancer	5/12	OMIM:608456
27030	MLH3	HP:0003073	Hypoalbuminemia	-	OMIM:174900
27030	MLH3	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
27030	MLH3	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
27030	MLH3	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
27030	MLH3	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
27030	MLH3	HP:0002900	Hypokalemia	-	OMIM:174900
27030	MLH3	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
27030	MLH3	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
27030	MLH3	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
27030	MLH3	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
27030	MLH3	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:614385
27030	MLH3	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
27031	NPHP3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
27031	NPHP3	HP:0003774	Stage 5 chronic kidney disease	2/7	OMIM:267010
27031	NPHP3	HP:0003774	Stage 5 chronic kidney disease	16/16	OMIM:604387
27031	NPHP3	HP:0003774	Stage 5 chronic kidney disease	2/2	OMIM:208540
27031	NPHP3	HP:0003774	Stage 5 chronic kidney disease	HP:0040281	ORPHA:3156
27031	NPHP3	HP:0001276	Hypertonia	1/7	OMIM:267010
27031	NPHP3	HP:0001251	Ataxia	HP:0040283	ORPHA:3156
27031	NPHP3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3156
27031	NPHP3	HP:0002566	Intestinal malrotation	-	OMIM:208540
27031	NPHP3	HP:0002566	Intestinal malrotation	HP:0040282	ORPHA:3032
27031	NPHP3	HP:0410288	Hyperamylasemia	HP:0040283	ORPHA:294415
27031	NPHP3	HP:0003811	Neonatal death	1/2	OMIM:208540
27031	NPHP3	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:294415
27031	NPHP3	HP:0000083	Renal insufficiency	-	OMIM:604387
27031	NPHP3	HP:0000083	Renal insufficiency	2/2	OMIM:208540
27031	NPHP3	HP:0000090	Nephronophthisis	HP:0040282	ORPHA:3156
27031	NPHP3	HP:0000090	Nephronophthisis	16/16	OMIM:604387
27031	NPHP3	HP:0000093	Proteinuria	0/16	OMIM:604387
27031	NPHP3	HP:0000092	Renal tubular atrophy	-	OMIM:604387
27031	NPHP3	HP:0001396	Cholestasis	-	OMIM:208540
27031	NPHP3	HP:0001396	Cholestasis	1/7	OMIM:267010
27031	NPHP3	HP:0001395	Hepatic fibrosis	6/53	OMIM:604387
27031	NPHP3	HP:0001395	Hepatic fibrosis	-	OMIM:208540
27031	NPHP3	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:294415
27031	NPHP3	HP:0001394	Cirrhosis	2/2	OMIM:208540
27031	NPHP3	HP:0001394	Cirrhosis	HP:0040283	ORPHA:294415
27031	NPHP3	HP:0000023	Inguinal hernia	1/7	OMIM:267010
27031	NPHP3	HP:0000007	Autosomal recessive inheritance	-	OMIM:267010
27031	NPHP3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
27031	NPHP3	HP:0000007	Autosomal recessive inheritance	-	OMIM:604387
27031	NPHP3	HP:0000007	Autosomal recessive inheritance	-	OMIM:208540
27031	NPHP3	HP:0000003	Multicystic kidney dysplasia	6/7	OMIM:267010
27031	NPHP3	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:3032
27031	NPHP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
27031	NPHP3	HP:0001305	Dandy-Walker malformation	1/5	OMIM:267010
27031	NPHP3	HP:0001305	Dandy-Walker malformation	HP:0040283	OMIM:208540
27031	NPHP3	HP:0001305	Dandy-Walker malformation	HP:0040281	ORPHA:3032
27031	NPHP3	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:294415
27031	NPHP3	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:3156
27031	NPHP3	HP:0002613	Biliary cirrhosis	2/7	OMIM:267010
27031	NPHP3	HP:0002613	Biliary cirrhosis	1/3	OMIM:208540
27031	NPHP3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
27031	NPHP3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
27031	NPHP3	HP:0006276	Hyperechogenic pancreas	1/1	OMIM:208540
27031	NPHP3	HP:0000113	Polycystic kidney dysplasia	2/3	OMIM:208540
27031	NPHP3	HP:0000110	Renal dysplasia	-	OMIM:208540
27031	NPHP3	HP:0000110	Renal dysplasia	HP:0040281	ORPHA:294415
27031	NPHP3	HP:0000110	Renal dysplasia	HP:0040281	ORPHA:3032
27031	NPHP3	HP:0000107	Renal cyst	HP:0040282	ORPHA:294415
27031	NPHP3	HP:0000108	Renal corticomedullary cysts	-	OMIM:604387
27031	NPHP3	HP:0000103	Polyuria	7/16	OMIM:604387
27031	NPHP3	HP:0001433	Hepatosplenomegaly	1/7	OMIM:267010
27031	NPHP3	HP:0000105	Enlarged kidney	-	OMIM:208540
27031	NPHP3	HP:0000105	Enlarged kidney	HP:0040282	ORPHA:294415
27031	NPHP3	HP:0000105	Enlarged kidney	7/16	OMIM:604387
27031	NPHP3	HP:0000104	Renal agenesis	HP:0040283	ORPHA:294415
27031	NPHP3	HP:0001409	Portal hypertension	1/3	OMIM:208540
27031	NPHP3	HP:0001409	Portal hypertension	1/7	OMIM:267010
27031	NPHP3	HP:0001408	Bile duct proliferation	-	OMIM:267010
27031	NPHP3	HP:0001408	Bile duct proliferation	-	OMIM:208540
27031	NPHP3	HP:0001407	Hepatic cysts	HP:0040283	ORPHA:294415
27031	NPHP3	HP:0001407	Hepatic cysts	-	OMIM:208540
27031	NPHP3	HP:0030992	Abnormal pancreatic duct morphology	HP:0040282	ORPHA:294415
27031	NPHP3	HP:0002009	Potter facies	-	OMIM:208540
27031	NPHP3	HP:0005999	Ureteral atresia	HP:0040283	OMIM:208540
27031	NPHP3	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:294415
27031	NPHP3	HP:0002089	Pulmonary hypoplasia	-	OMIM:208540
27031	NPHP3	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:294415
27031	NPHP3	HP:0002089	Pulmonary hypoplasia	HP:0040282	ORPHA:3032
27031	NPHP3	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040282	ORPHA:294415
27031	NPHP3	HP:0002190	Choroid plexus cyst	1/7	OMIM:267010
27031	NPHP3	HP:0008209	Premature ovarian insufficiency	HP:0040282	ORPHA:3156
27031	NPHP3	HP:0010579	Cone-shaped epiphysis	HP:0040283	ORPHA:3156
27031	NPHP3	HP:0003593	Infantile onset	12/16	OMIM:604387
27031	NPHP3	HP:0003593	Infantile onset	1/3	OMIM:208540
27031	NPHP3	HP:0003577	Congenital onset	2/3	OMIM:208540
27031	NPHP3	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:294415
27031	NPHP3	HP:0002240	Hepatomegaly	1/2	OMIM:208540
27031	NPHP3	HP:0004890	Elevated pulmonary artery pressure	HP:0040283	ORPHA:294415
27031	NPHP3	HP:0100732	Pancreatic fibrosis	HP:0040282	ORPHA:294415
27031	NPHP3	HP:0100732	Pancreatic fibrosis	-	OMIM:208540
27031	NPHP3	HP:0100651	Type I diabetes mellitus	HP:0040282	ORPHA:294415
27031	NPHP3	HP:0100611	Multiple glomerular cysts	1/7	OMIM:267010
27031	NPHP3	HP:0033478	Increased circulating lipoprotein lipase concentration	HP:0040283	ORPHA:294415
27031	NPHP3	HP:0003621	Juvenile onset	8/19	OMIM:180100
27031	NPHP3	HP:0005576	Tubulointerstitial fibrosis	16/16	OMIM:604387
27031	NPHP3	HP:0012622	Chronic kidney disease	HP:0040281	ORPHA:3156
27031	NPHP3	HP:0001959	Polydipsia	7/16	OMIM:604387
27031	NPHP3	HP:0000662	Nyctalopia	26/28	OMIM:180100
27031	NPHP3	HP:0004322	Short stature	HP:0040281	ORPHA:3156
27031	NPHP3	HP:0031956	Elevated circulating aspartate aminotransferase concentration	HP:0040282	ORPHA:294415
27031	NPHP3	HP:0031964	Elevated circulating alanine aminotransferase concentration	HP:0040282	ORPHA:294415
27031	NPHP3	HP:0000805	Enuresis	-	OMIM:604387
27031	NPHP3	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:3156
27031	NPHP3	HP:0011463	Childhood onset	3/19	OMIM:180100
27031	NPHP3	HP:0011463	Childhood onset	4/16	OMIM:604387
27031	NPHP3	HP:0011462	Young adult onset	8/19	OMIM:180100
27031	NPHP3	HP:0000790	Hematuria	0/16	OMIM:604387
27031	NPHP3	HP:0004467	Preauricular pit	1/3	OMIM:208540
27031	NPHP3	HP:0000822	Hypertension	HP:0040281	ORPHA:3156
27031	NPHP3	HP:0000952	Jaundice	HP:0040283	ORPHA:294415
27031	NPHP3	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:3156
27031	NPHP3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
27031	NPHP3	HP:0000239	Large fontanelles	1/5	OMIM:267010
27031	NPHP3	HP:0001562	Oligohydramnios	3/7	OMIM:267010
27031	NPHP3	HP:0001562	Oligohydramnios	1/3	OMIM:208540
27031	NPHP3	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:294415
27031	NPHP3	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:3032
27031	NPHP3	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:3032
27031	NPHP3	HP:0001508	Failure to thrive	11/16	OMIM:604387
27031	NPHP3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
27031	NPHP3	HP:0005232	Pancreatic dysplasia	HP:0040282	ORPHA:294415
27031	NPHP3	HP:0006563	Malformation of the hepatic ductal plate	2/3	OMIM:208540
27031	NPHP3	HP:0006566	Neonatal cholestatic liver disease	HP:0040282	ORPHA:294415
27031	NPHP3	HP:0002904	Hyperbilirubinemia	HP:0040282	ORPHA:294415
27031	NPHP3	HP:0001696	Situs inversus totalis	1/3	OMIM:208540
27031	NPHP3	HP:0001696	Situs inversus totalis	1/7	OMIM:267010
27031	NPHP3	HP:0001667	Right ventricular hypertrophy	1/7	OMIM:267010
27031	NPHP3	HP:0000348	High forehead	1/7	OMIM:267010
27031	NPHP3	HP:0001650	Aortic valve stenosis	1/7	OMIM:267010
27031	NPHP3	HP:0001650	Aortic valve stenosis	-	OMIM:208540
27031	NPHP3	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:294415
27031	NPHP3	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:294415
27031	NPHP3	HP:0001643	Patent ductus arteriosus	2/7	OMIM:267010
27031	NPHP3	HP:0001643	Patent ductus arteriosus	-	OMIM:208540
27031	NPHP3	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:294415
27031	NPHP3	HP:0030146	Abnormal liver parenchyma morphology	HP:0040282	ORPHA:3032
27031	NPHP3	HP:0030146	Abnormal liver parenchyma morphology	HP:0040282	ORPHA:294415
27031	NPHP3	HP:0001631	Atrial septal defect	1/7	OMIM:267010
27031	NPHP3	HP:0001631	Atrial septal defect	-	OMIM:208540
27031	NPHP3	HP:0001737	Pancreatic cysts	2/12	OMIM:267010
27031	NPHP3	HP:0001737	Pancreatic cysts	-	OMIM:208540
27031	NPHP3	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:294415
27031	NPHP3	HP:0001732	Abnormality of the pancreas	HP:0040282	ORPHA:3032
27031	NPHP3	HP:0001790	Nonimmune hydrops fetalis	HP:0040283	ORPHA:294415
27031	NPHP3	HP:0012440	Abnormal biliary tract morphology	HP:0040282	ORPHA:3032
27031	NPHP3	HP:0001746	Asplenia	HP:0040283	ORPHA:294415
27031	NPHP3	HP:0001746	Asplenia	-	OMIM:208540
27031	NPHP3	HP:0001748	Polysplenia	-	OMIM:208540
27031	NPHP3	HP:0001744	Splenomegaly	HP:0040283	ORPHA:294415
27031	NPHP3	HP:0001744	Splenomegaly	1/2	OMIM:208540
27031	NPHP3	HP:0000518	Cataract	HP:0040283	ORPHA:3156
27031	NPHP3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
27031	NPHP3	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:3156
27031	NPHP3	HP:0000505	Visual impairment	HP:0040281	ORPHA:3156
27031	NPHP3	HP:0001830	Postaxial foot polydactyly	1/7	OMIM:267010
27031	NPHP3	HP:0000575	Scotoma	5/18	OMIM:180100
27031	NPHP3	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:3156
27031	NPHP3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
27031	NPHP3	HP:0000545	Myopia	-	OMIM:180100
27032	ATP2C1	HP:0000006	Autosomal dominant inheritance	-	OMIM:169600
27032	ATP2C1	HP:0100792	Acantholysis	HP:0040281	ORPHA:2841
27032	ATP2C1	HP:0200037	Skin vesicle	HP:0040281	ORPHA:2841
27032	ATP2C1	HP:0200041	Skin erosion	HP:0040281	ORPHA:2841
27032	ATP2C1	HP:0010783	Erythema	HP:0040281	ORPHA:2841
27032	ATP2C1	HP:0010783	Erythema	-	OMIM:169600
27032	ATP2C1	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:2841
27034	ACAD8	HP:0001252	Hypotonia	-	OMIM:611283
27034	ACAD8	HP:0001252	Hypotonia	HP:0040283	ORPHA:79159
27034	ACAD8	HP:0000007	Autosomal recessive inheritance	-	OMIM:611283
27034	ACAD8	HP:0002013	Vomiting	HP:0040283	ORPHA:79159
27034	ACAD8	HP:0001944	Dehydration	HP:0040283	ORPHA:79159
27034	ACAD8	HP:0001903	Anemia	-	OMIM:611283
27034	ACAD8	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:79159
27034	ACAD8	HP:0012734	Ketotic hypoglycemia	HP:0040283	ORPHA:79159
27034	ACAD8	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:79159
27034	ACAD8	HP:0003234	Decreased circulating carnitine concentration	-	OMIM:611283
27034	ACAD8	HP:0003234	Decreased circulating carnitine concentration	HP:0040282	ORPHA:79159
27034	ACAD8	HP:0003215	Dicarboxylic aciduria	HP:0040282	ORPHA:79159
27034	ACAD8	HP:0045045	Elevated circulating acylcarnitine concentration	HP:0040282	ORPHA:79159
27034	ACAD8	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:79159
27034	ACAD8	HP:0001644	Dilated cardiomyopathy	-	OMIM:611283
27034	ACAD8	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:79159
27040	LAT	HP:0032247	Persistent CMV viremia	3/3	OMIM:617514
27040	LAT	HP:0032218	Decreased proportion of CD4-positive T cells	2/3	OMIM:617514
27040	LAT	HP:0500270	Increased gamma-delta T cell proportion	3/3	OMIM:617514
27040	LAT	HP:0010975	Abnormal B cell count	0/5	OMIM:617514
27040	LAT	HP:0003819	Death in childhood	1/3	OMIM:617514
27040	LAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:617514
27040	LAT	HP:0002719	Recurrent infections	5/5	OMIM:617514
27040	LAT	HP:0002716	Lymphadenopathy	3/3	OMIM:617514
27040	LAT	HP:0002720	Decreased circulating IgA concentration	3/3	OMIM:617514
27040	LAT	HP:0002721	Immunodeficiency	-	OMIM:617514
27040	LAT	HP:0002110	Bronchiectasis	2/3	OMIM:617514
27040	LAT	HP:0003593	Infantile onset	5/8	OMIM:617514
27040	LAT	HP:0004844	Coombs-positive hemolytic anemia	2/3	OMIM:617514
27040	LAT	HP:0020072	Persistent EBV viremia	1/3	OMIM:617514
27040	LAT	HP:0003623	Neonatal onset	3/5	OMIM:617514
27040	LAT	HP:0001973	Autoimmune thrombocytopenia	2/3	OMIM:617514
27040	LAT	HP:0004313	Decreased circulating immunoglobulin concentration	2/3	OMIM:617514
27040	LAT	HP:0040089	Abnormal total natural killer cell count	0/5	OMIM:617514
27040	LAT	HP:0001522	Death in infancy	1/3	OMIM:617514
27040	LAT	HP:0001508	Failure to thrive	2/5	OMIM:617514
27040	LAT	HP:0031379	Abnormal T cell proliferation	5/5	OMIM:617514
27040	LAT	HP:0006528	Chronic lung disease	2/3	OMIM:617514
27040	LAT	HP:0006532	Recurrent pneumonia	3/3	OMIM:617514
27040	LAT	HP:0002958	Immune dysregulation	-	OMIM:617514
27040	LAT	HP:0001744	Splenomegaly	3/3	OMIM:617514
27040	LAT	HP:0005403	Decreased total T cell count	5/5	OMIM:617514
27040	LAT	HP:0001888	Decreased total lymphocyte count	2/3	OMIM:617514
27063	ANKRD1	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
27063	ANKRD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
27063	ANKRD1	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
27063	ANKRD1	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
27063	ANKRD1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
27063	ANKRD1	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
27063	ANKRD1	HP:0003198	Myopathy	HP:0040283	ORPHA:154
27063	ANKRD1	HP:0004467	Preauricular pit	-	OMIM:187500
27063	ANKRD1	HP:0000969	Edema	HP:0040282	ORPHA:154
27063	ANKRD1	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
27063	ANKRD1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
27063	ANKRD1	HP:0012378	Fatigue	HP:0040282	ORPHA:154
27063	ANKRD1	HP:0000337	Broad forehead	-	OMIM:187500
27063	ANKRD1	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
27063	ANKRD1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
27063	ANKRD1	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
27063	ANKRD1	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
27063	ANKRD1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
27063	ANKRD1	HP:0000520	Proptosis	-	OMIM:187500
27068	PPA2	HP:0001250	Seizure	HP:0040283	OMIM:617222
27068	PPA2	HP:0001252	Hypotonia	1/7	OMIM:617222
27068	PPA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617223
27068	PPA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617222
27068	PPA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
27068	PPA2	HP:0003593	Infantile onset	2/7	OMIM:617222
27068	PPA2	HP:0100749	Chest pain	-	OMIM:617223
27068	PPA2	HP:0003621	Juvenile onset	-	OMIM:617223
27068	PPA2	HP:0001942	Metabolic acidosis	HP:0040283	OMIM:617222
27068	PPA2	HP:0011463	Childhood onset	5/7	OMIM:617222
27068	PPA2	HP:0012819	Myocarditis	-	OMIM:617222
27068	PPA2	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
27068	PPA2	HP:0001664	Torsade de pointes	1/46	OMIM:115000
27068	PPA2	HP:0001685	Myocardial fibrosis	-	OMIM:617223
27068	PPA2	HP:0001685	Myocardial fibrosis	1/6	OMIM:617222
27068	PPA2	HP:0001645	Sudden cardiac death	-	OMIM:115000
27068	PPA2	HP:0001645	Sudden cardiac death	7/7	OMIM:617222
27068	PPA2	HP:0001663	Ventricular fibrillation	-	OMIM:115000
27068	PPA2	HP:0001662	Bradycardia	3/7	OMIM:617222
27068	PPA2	HP:0001639	Hypertrophic cardiomyopathy	1/7	OMIM:617222
27068	PPA2	HP:0001635	Congestive heart failure	-	OMIM:617222
27068	PPA2	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
27068	PPA2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
27072	VPS41	HP:0002493	Upper motor neuron dysfunction	HP:0040281	ORPHA:95434
27072	VPS41	HP:0002454	Eye of the tiger anomaly of globus pallidus	1/8	OMIM:619389
27072	VPS41	HP:0007325	Generalized dystonia	1/1	OMIM:619389
27072	VPS41	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:95434
27072	VPS41	HP:0001272	Cerebellar atrophy	2/8	OMIM:619389
27072	VPS41	HP:0001270	Motor delay	8/9	OMIM:619389
27072	VPS41	HP:0001250	Seizure	2/9	OMIM:619389
27072	VPS41	HP:0001252	Hypotonia	8/9	OMIM:619389
27072	VPS41	HP:0001251	Ataxia	7/7	OMIM:619389
27072	VPS41	HP:0001249	Intellectual disability	8/9	OMIM:619389
27072	VPS41	HP:0001260	Dysarthria	6/6	OMIM:619389
27072	VPS41	HP:0001260	Dysarthria	HP:0040282	ORPHA:95434
27072	VPS41	HP:0001263	Global developmental delay	1/1	OMIM:619389
27072	VPS41	HP:0007371	Corpus callosum atrophy	1/8	OMIM:619389
27072	VPS41	HP:0007338	Hypermetric saccades	HP:0040282	ORPHA:95434
27072	VPS41	HP:0002540	Inability to walk	1/1	OMIM:619389
27072	VPS41	HP:0001344	Absent speech	3/9	OMIM:619389
27072	VPS41	HP:0000007	Autosomal recessive inheritance	-	OMIM:619389
27072	VPS41	HP:0001336	Myoclonus	HP:0040283	ORPHA:95434
27072	VPS41	HP:0008936	Axial hypotonia	2/9	OMIM:619389
27072	VPS41	HP:0025404	Abnormal visual fixation	HP:0040281	ORPHA:95434
27072	VPS41	HP:0002066	Gait ataxia	HP:0040281	ORPHA:95434
27072	VPS41	HP:0002061	Lower limb spasticity	1/9	OMIM:619389
27072	VPS41	HP:0002078	Truncal ataxia	HP:0040281	ORPHA:95434
27072	VPS41	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:95434
27072	VPS41	HP:0002070	Limb ataxia	HP:0040281	ORPHA:95434
27072	VPS41	HP:0002058	Myopathic facies	4/9	OMIM:619389
27072	VPS41	HP:0003477	Peripheral axonal neuropathy	1/1	OMIM:619389
27072	VPS41	HP:0003474	Somatic sensory dysfunction	HP:0040281	ORPHA:95434
27072	VPS41	HP:0010522	Dyslexia	HP:0040282	ORPHA:95434
27072	VPS41	HP:0003593	Infantile onset	4/8	OMIM:619389
27072	VPS41	HP:0002380	Fasciculations	HP:0040282	ORPHA:95434
27072	VPS41	HP:0002366	Abnormal lower motor neuron morphology	HP:0040281	ORPHA:95434
27072	VPS41	HP:0002317	Unsteady gait	HP:0040282	ORPHA:95434
27072	VPS41	HP:0010831	Impaired proprioception	HP:0040282	ORPHA:95434
27072	VPS41	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:95434
27072	VPS41	HP:0006855	Cerebellar vermis atrophy	7/9	OMIM:619389
27072	VPS41	HP:0000639	Nystagmus	5/8	OMIM:619389
27072	VPS41	HP:0012678	Iron accumulation in substantia nigra	1/8	OMIM:619389
27072	VPS41	HP:0011463	Childhood onset	4/8	OMIM:619389
27072	VPS41	HP:0007814	Retinal pigment epithelial mottling	1/6	OMIM:619389
27072	VPS41	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:95434
27072	VPS41	HP:0001761	Pes cavus	HP:0040282	ORPHA:95434
27072	VPS41	HP:0000570	Abnormal saccadic eye movements	HP:0040282	ORPHA:95434
27072	VPS41	HP:0000543	Optic disc pallor	1/1	OMIM:619389
27077	B9D1	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:564
27077	B9D1	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:564
27077	B9D1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
27077	B9D1	HP:0010946	Dilatation of the renal pelvis	1/2	OMIM:617120
27077	B9D1	HP:0002419	Molar tooth sign on MRI	2/2	OMIM:617120
27077	B9D1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
27077	B9D1	HP:0001250	Seizure	HP:0040283	ORPHA:475
27077	B9D1	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
27077	B9D1	HP:0001252	Hypotonia	2/2	OMIM:617120
27077	B9D1	HP:0001251	Ataxia	HP:0040281	ORPHA:475
27077	B9D1	HP:0001251	Ataxia	2/2	OMIM:617120
27077	B9D1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
27077	B9D1	HP:0001249	Intellectual disability	2/2	OMIM:617120
27077	B9D1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
27077	B9D1	HP:0001263	Global developmental delay	2/2	OMIM:617120
27077	B9D1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
27077	B9D1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:564
27077	B9D1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
27077	B9D1	HP:0000068	Urethral atresia	HP:0040283	ORPHA:564
27077	B9D1	HP:0000062	Ambiguous genitalia	1/1	OMIM:614209
27077	B9D1	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:564
27077	B9D1	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:564
27077	B9D1	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:564
27077	B9D1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:564
27077	B9D1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
27077	B9D1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614209
27077	B9D1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617120
27077	B9D1	HP:0000003	Multicystic kidney dysplasia	1/1	OMIM:614209
27077	B9D1	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:564
27077	B9D1	HP:0001337	Tremor	HP:0040283	ORPHA:475
27077	B9D1	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:564
27077	B9D1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
27077	B9D1	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
27077	B9D1	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:564
27077	B9D1	HP:0000179	Thick lower lip vermilion	1/2	OMIM:617120
27077	B9D1	HP:0000175	Cleft palate	HP:0040282	ORPHA:564
27077	B9D1	HP:0008936	Axial hypotonia	1/2	OMIM:617120
27077	B9D1	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
27077	B9D1	HP:0002007	Frontal bossing	1/2	OMIM:617120
27077	B9D1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
27077	B9D1	HP:0002085	Occipital encephalocele	1/1	OMIM:614209
27077	B9D1	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
27077	B9D1	HP:0002084	Encephalocele	HP:0040281	ORPHA:564
27077	B9D1	HP:0002066	Gait ataxia	1/2	OMIM:617120
27077	B9D1	HP:0010442	Polydactyly	0/2	OMIM:617120
27077	B9D1	HP:0010459	True hermaphroditism	HP:0040283	ORPHA:564
27077	B9D1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
27077	B9D1	HP:0002104	Apnea	HP:0040281	ORPHA:475
27077	B9D1	HP:0003593	Infantile onset	2/2	OMIM:617120
27077	B9D1	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
27077	B9D1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
27077	B9D1	HP:0100732	Pancreatic fibrosis	HP:0040283	ORPHA:564
27077	B9D1	HP:0020045	Esodeviation	1/2	OMIM:617120
27077	B9D1	HP:0002323	Anencephaly	HP:0040283	ORPHA:564
27077	B9D1	HP:0009826	Limb undergrowth	1/1	OMIM:614209
27077	B9D1	HP:0006870	Lobar holoprosencephaly	HP:0040282	ORPHA:564
27077	B9D1	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
27077	B9D1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:564
27077	B9D1	HP:0000647	Sclerocornea	HP:0040282	ORPHA:564
27077	B9D1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
27077	B9D1	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
27077	B9D1	HP:0000657	Oculomotor apraxia	2/2	OMIM:617120
27077	B9D1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
27077	B9D1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:564
27077	B9D1	HP:0034199	Late first trimester onset	1/1	OMIM:614209
27077	B9D1	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
27077	B9D1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
27077	B9D1	HP:0034217	Sonographic non-visualized fetal bladder	1/1	OMIM:614209
27077	B9D1	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:564
27077	B9D1	HP:0000932	Abnormal posterior cranial fossa morphology	1/1	OMIM:614209
27077	B9D1	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040282	ORPHA:564
27077	B9D1	HP:0000293	Full cheeks	HP:0040282	ORPHA:564
27077	B9D1	HP:0000276	Long face	HP:0040282	ORPHA:475
27077	B9D1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
27077	B9D1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:564
27077	B9D1	HP:0000252	Microcephaly	HP:0040281	ORPHA:564
27077	B9D1	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:564
27077	B9D1	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
27077	B9D1	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:564
27077	B9D1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
27077	B9D1	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:564
27077	B9D1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
27077	B9D1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:564
27077	B9D1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:564
27077	B9D1	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
27077	B9D1	HP:0000340	Sloping forehead	HP:0040282	ORPHA:564
27077	B9D1	HP:0000347	Micrognathia	HP:0040282	ORPHA:564
27077	B9D1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:564
27077	B9D1	HP:0000325	Triangular face	1/2	OMIM:617120
27077	B9D1	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:564
27077	B9D1	HP:0000486	Strabismus	HP:0040283	ORPHA:475
27077	B9D1	HP:0000482	Microcornea	HP:0040282	ORPHA:564
27077	B9D1	HP:0000488	Retinopathy	1/2	OMIM:617120
27077	B9D1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
27077	B9D1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:564
27077	B9D1	HP:0001746	Asplenia	HP:0040283	ORPHA:564
27077	B9D1	HP:0001747	Accessory spleen	HP:0040283	ORPHA:564
27077	B9D1	HP:0001762	Talipes equinovarus	1/1	OMIM:614209
27077	B9D1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
27077	B9D1	HP:0006706	Cystic liver disease	HP:0040283	ORPHA:564
27077	B9D1	HP:0000518	Cataract	HP:0040282	ORPHA:564
27077	B9D1	HP:0000528	Anophthalmia	HP:0040283	ORPHA:564
27077	B9D1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
27077	B9D1	HP:0000508	Ptosis	HP:0040283	ORPHA:475
27077	B9D1	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:564
27077	B9D1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:564
27077	B9D1	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:564
27077	B9D1	HP:0001883	Talipes	HP:0040282	ORPHA:564
27086	FOXP1	HP:0002463	Language impairment	1/1	OMIM:613670
27086	FOXP1	HP:0002474	Expressive language delay	HP:0040281	ORPHA:391372
27086	FOXP1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0008589	Hypoplastic helices	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0001290	Generalized hypotonia	3/3	OMIM:613670
27086	FOXP1	HP:0001270	Motor delay	3/3	OMIM:613670
27086	FOXP1	HP:0001270	Motor delay	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0001250	Seizure	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0001252	Hypotonia	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0001249	Intellectual disability	3/3	OMIM:613670
27086	FOXP1	HP:0001263	Global developmental delay	4/4	OMIM:613670
27086	FOXP1	HP:0001257	Spasticity	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0008762	Repetitive compulsive behavior	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0001212	Prominent fingertip pads	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0001371	Flexion contracture	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:613670
27086	FOXP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613670
27086	FOXP1	HP:0012191	B-cell lymphoma	HP:0040281	ORPHA:52417
27086	FOXP1	HP:0000194	Open mouth	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0000194	Open mouth	-	OMIM:613670
27086	FOXP1	HP:0012123	Posterior uveitis	HP:0040283	ORPHA:52417
27086	FOXP1	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:52417
27086	FOXP1	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0002019	Constipation	HP:0040282	ORPHA:52417
27086	FOXP1	HP:0002019	Constipation	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:52417
27086	FOXP1	HP:0040303	Decreased circulating iron concentration	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:52417
27086	FOXP1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0002113	Pulmonary infiltrates	HP:0040281	ORPHA:52417
27086	FOXP1	HP:0002188	Delayed CNS myelination	1/1	OMIM:613670
27086	FOXP1	HP:0002194	Delayed gross motor development	1/1	OMIM:613670
27086	FOXP1	HP:0011823	Chin with horizontal crease	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0003593	Infantile onset	5/5	OMIM:613670
27086	FOXP1	HP:0002236	Frontal upsweep of hair	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0100716	Self-injurious behavior	2/2	OMIM:613670
27086	FOXP1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:52417
27086	FOXP1	HP:0100721	Mediastinal lymphadenopathy	HP:0040283	ORPHA:52417
27086	FOXP1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0007018	Attention deficit hyperactivity disorder	2/3	OMIM:613670
27086	FOXP1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0002353	EEG abnormality	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0002307	Drooling	1/1	OMIM:613670
27086	FOXP1	HP:0009088	Speech articulation difficulties	HP:0040281	ORPHA:391372
27086	FOXP1	HP:0000639	Nystagmus	1/3	OMIM:613670
27086	FOXP1	HP:0000639	Nystagmus	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0000614	Abnormal nasolacrimal system morphology	HP:0040283	ORPHA:52417
27086	FOXP1	HP:0001945	Fever	HP:0040281	ORPHA:52417
27086	FOXP1	HP:0001903	Anemia	HP:0040281	ORPHA:52417
27086	FOXP1	HP:0000805	Enuresis	1/3	OMIM:613670
27086	FOXP1	HP:0031936	Delayed ability to walk	1/1	OMIM:613670
27086	FOXP1	HP:0000739	Anxiety	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0000739	Anxiety	2/2	OMIM:613670
27086	FOXP1	HP:0000733	Motor stereotypy	2/2	OMIM:613670
27086	FOXP1	HP:0000736	Short attention span	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0000732	Inflexible adherence to routines	2/2	OMIM:613670
27086	FOXP1	HP:0000750	Delayed speech and language development	5/5	OMIM:613670
27086	FOXP1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:391372
27086	FOXP1	HP:0000718	Aggressive behavior	1/1	OMIM:613670
27086	FOXP1	HP:0000729	Autistic behavior	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0000729	Autistic behavior	1/3	OMIM:613670
27086	FOXP1	HP:0000722	Compulsive behaviors	3/3	OMIM:613670
27086	FOXP1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0003196	Short nose	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0003196	Short nose	1/3	OMIM:613670
27086	FOXP1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0000820	Abnormality of the thyroid gland	HP:0040283	ORPHA:52417
27086	FOXP1	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:52417
27086	FOXP1	HP:0000954	Single transverse palmar crease	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0000278	Retrognathia	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0000278	Retrognathia	1/3	OMIM:613670
27086	FOXP1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0000256	Macrocephaly	2/4	OMIM:613670
27086	FOXP1	HP:0000272	Malar flattening	1/1	OMIM:613670
27086	FOXP1	HP:0030084	Clinodactyly	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0001581	Recurrent skin infections	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0025502	Overweight	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0001531	Failure to thrive in infancy	1/1	OMIM:613670
27086	FOXP1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0001513	Obesity	HP:0040283	OMIM:613670
27086	FOXP1	HP:0011098	Speech apraxia	1/3	OMIM:613670
27086	FOXP1	HP:0012393	Allergy	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0012378	Fatigue	HP:0040281	ORPHA:52417
27086	FOXP1	HP:0000316	Hypertelorism	2/3	OMIM:613670
27086	FOXP1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0005272	Prominent nasolabial fold	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0000486	Strabismus	1/3	OMIM:613670
27086	FOXP1	HP:0000486	Strabismus	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:613670
27086	FOXP1	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0000455	Broad nasal tip	1/1	OMIM:613670
27086	FOXP1	HP:0011298	Prominent digit pad	1/1	OMIM:613670
27086	FOXP1	HP:0001824	Weight loss	HP:0040281	ORPHA:52417
27086	FOXP1	HP:0000508	Ptosis	HP:0040282	ORPHA:391372
27086	FOXP1	HP:0000505	Visual impairment	HP:0040283	ORPHA:52417
27086	FOXP1	HP:0000598	Abnormality of the ear	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:391372
27086	FOXP1	HP:0011220	Prominent forehead	HP:0040281	ORPHA:391372
27086	FOXP1	HP:0011220	Prominent forehead	1/1	OMIM:613670
27086	FOXP1	HP:0000539	Abnormality of refraction	HP:0040282	ORPHA:391372
27089	UQCRQ	HP:0010864	Intellectual disability, severe	20/20	OMIM:615159
27089	UQCRQ	HP:0001251	Ataxia	20/20	OMIM:615159
27089	UQCRQ	HP:0001263	Global developmental delay	20/20	OMIM:615159
27089	UQCRQ	HP:0002540	Inability to walk	20/20	OMIM:615159
27089	UQCRQ	HP:0001347	Hyperreflexia	20/20	OMIM:615159
27089	UQCRQ	HP:0001332	Dystonia	20/20	OMIM:615159
27089	UQCRQ	HP:0001344	Absent speech	-	OMIM:615159
27089	UQCRQ	HP:0000007	Autosomal recessive inheritance	-	OMIM:615159
27089	UQCRQ	HP:0008936	Axial hypotonia	20/20	OMIM:615159
27089	UQCRQ	HP:0002071	Abnormality of extrapyramidal motor function	20/20	OMIM:615159
27089	UQCRQ	HP:0002151	Increased circulating lactate concentration	20/20	OMIM:615159
27089	UQCRQ	HP:0011924	Decreased activity of mitochondrial complex III	3/3	OMIM:615159
27089	UQCRQ	HP:0003593	Infantile onset	-	OMIM:615159
27089	UQCRQ	HP:0002305	Athetosis	20/20	OMIM:615159
27089	UQCRQ	HP:0000711	Restlessness	20/20	OMIM:615159
27089	UQCRQ	HP:0003200	Ragged-red muscle fibers	0/3	OMIM:615159
27102	EIF2AK1	HP:0001252	Hypotonia	1/1	OMIM:618878
27102	EIF2AK1	HP:0001260	Dysarthria	1/1	OMIM:618878
27102	EIF2AK1	HP:0025352	Typically de novo	-	OMIM:618878
27102	EIF2AK1	HP:0000012	Urinary urgency	1/1	OMIM:618878
27102	EIF2AK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618878
27102	EIF2AK1	HP:0002067	Bradykinesia	1/1	OMIM:618878
27102	EIF2AK1	HP:0002061	Lower limb spasticity	1/1	OMIM:618878
27102	EIF2AK1	HP:0003593	Infantile onset	1/1	OMIM:618878
27102	EIF2AK1	HP:0007018	Attention deficit hyperactivity disorder	1/1	OMIM:618878
27102	EIF2AK1	HP:0031936	Delayed ability to walk	1/1	OMIM:618878
27102	EIF2AK1	HP:0000739	Anxiety	1/1	OMIM:618878
27102	EIF2AK1	HP:0000750	Delayed speech and language development	1/1	OMIM:618878
27107	ZBTB11	HP:0001252	Hypotonia	1/4	OMIM:618383
27107	ZBTB11	HP:0001251	Ataxia	4/4	OMIM:618383
27107	ZBTB11	HP:0001260	Dysarthria	-	OMIM:618383
27107	ZBTB11	HP:0001263	Global developmental delay	-	OMIM:618383
27107	ZBTB11	HP:0001257	Spasticity	3/3	OMIM:618383
27107	ZBTB11	HP:0000007	Autosomal recessive inheritance	-	OMIM:618383
27107	ZBTB11	HP:0001321	Cerebellar hypoplasia	1/3	OMIM:618383
27107	ZBTB11	HP:0002119	Ventriculomegaly	1/3	OMIM:618383
27107	ZBTB11	HP:0430028	Hyperplasia of the maxilla	-	OMIM:618383
27107	ZBTB11	HP:0002342	Intellectual disability, moderate	9/9	OMIM:618383
27107	ZBTB11	HP:0002307	Drooling	3/3	OMIM:618383
27107	ZBTB11	HP:0031936	Delayed ability to walk	2/3	OMIM:618383
27107	ZBTB11	HP:0000750	Delayed speech and language development	9/9	OMIM:618383
27107	ZBTB11	HP:0000297	Facial hypotonia	-	OMIM:618383
27107	ZBTB11	HP:0000252	Microcephaly	5/9	OMIM:618383
27125	AFF4	HP:0001156	Brachydactyly	3/3	OMIM:616368
27125	AFF4	HP:0001156	Brachydactyly	HP:0040282	ORPHA:444077
27125	AFF4	HP:0009937	Facial hirsutism	HP:0040283	ORPHA:444077
27125	AFF4	HP:0009894	Thickened ears	HP:0040283	ORPHA:444077
27125	AFF4	HP:0001249	Intellectual disability	HP:0040281	ORPHA:444077
27125	AFF4	HP:0001249	Intellectual disability	-	OMIM:616368
27125	AFF4	HP:0002578	Gastroparesis	1/3	OMIM:616368
27125	AFF4	HP:0001263	Global developmental delay	HP:0040281	ORPHA:444077
27125	AFF4	HP:0001263	Global developmental delay	3/3	OMIM:616368
27125	AFF4	HP:0001231	Abnormal fingernail morphology	HP:0040283	ORPHA:444077
27125	AFF4	HP:0100874	Thick hair	1/3	OMIM:616368
27125	AFF4	HP:0100874	Thick hair	HP:0040282	ORPHA:444077
27125	AFF4	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:444077
27125	AFF4	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000085	Horseshoe kidney	1/3	OMIM:616368
27125	AFF4	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000076	Vesicoureteral reflux	2/3	OMIM:616368
27125	AFF4	HP:0000047	Hypospadias	HP:0040283	ORPHA:444077
27125	AFF4	HP:0025313	Exophoria	HP:0040283	ORPHA:444077
27125	AFF4	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000028	Cryptorchidism	1/1	OMIM:616368
27125	AFF4	HP:0000006	Autosomal dominant inheritance	-	OMIM:616368
27125	AFF4	HP:0002645	Wormian bones	HP:0040283	ORPHA:444077
27125	AFF4	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000162	Glossoptosis	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000158	Macroglossia	HP:0040283	ORPHA:444077
27125	AFF4	HP:0002705	High, narrow palate	1/3	OMIM:616368
27125	AFF4	HP:0002779	Tracheomalacia	1/3	OMIM:616368
27125	AFF4	HP:0002779	Tracheomalacia	HP:0040283	ORPHA:444077
27125	AFF4	HP:0002714	Downturned corners of mouth	1/3	OMIM:616368
27125	AFF4	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:444077
27125	AFF4	HP:0002020	Gastroesophageal reflux	2/3	OMIM:616368
27125	AFF4	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:444077
27125	AFF4	HP:0002019	Constipation	1/3	OMIM:616368
27125	AFF4	HP:0002019	Constipation	HP:0040282	ORPHA:444077
27125	AFF4	HP:0002086	Abnormality of the respiratory system	HP:0040281	ORPHA:444077
27125	AFF4	HP:0002099	Asthma	HP:0040283	ORPHA:444077
27125	AFF4	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:444077
27125	AFF4	HP:0004602	Cervical C2/C3 vertebral fusion	HP:0040283	ORPHA:444077
27125	AFF4	HP:0004602	Cervical C2/C3 vertebral fusion	1/3	OMIM:616368
27125	AFF4	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:444077
27125	AFF4	HP:0010535	Sleep apnea	2/3	OMIM:616368
27125	AFF4	HP:0010535	Sleep apnea	HP:0040283	ORPHA:444077
27125	AFF4	HP:0011842	Abnormal skeletal morphology	HP:0040281	ORPHA:444077
27125	AFF4	HP:0003577	Congenital onset	3/3	OMIM:616368
27125	AFF4	HP:0002212	Curly hair	1/3	OMIM:616368
27125	AFF4	HP:0002212	Curly hair	HP:0040283	ORPHA:444077
27125	AFF4	HP:0002208	Coarse hair	1/3	OMIM:616368
27125	AFF4	HP:0011951	Aspiration pneumonia	1/3	OMIM:616368
27125	AFF4	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:444077
27125	AFF4	HP:0008388	Abnormal toenail morphology	HP:0040283	ORPHA:444077
27125	AFF4	HP:0200055	Small hand	HP:0040283	ORPHA:444077
27125	AFF4	HP:0010772	Anomalous pulmonary venous return	1/3	OMIM:616368
27125	AFF4	HP:0000646	Amblyopia	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000648	Optic atrophy	1/3	OMIM:616368
27125	AFF4	HP:0000664	Synophrys	3/3	OMIM:616368
27125	AFF4	HP:0000664	Synophrys	HP:0040281	ORPHA:444077
27125	AFF4	HP:0004322	Short stature	HP:0040281	ORPHA:444077
27125	AFF4	HP:0004322	Short stature	3/3	OMIM:616368
27125	AFF4	HP:0003074	Hyperglycemia	HP:0040283	ORPHA:444077
27125	AFF4	HP:0003038	Fibular hypoplasia	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000771	Gynecomastia	HP:0040283	ORPHA:444077
27125	AFF4	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040282	ORPHA:444077
27125	AFF4	HP:0003196	Short nose	1/3	OMIM:616368
27125	AFF4	HP:0003196	Short nose	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000280	Coarse facial features	3/3	OMIM:616368
27125	AFF4	HP:0000293	Full cheeks	HP:0040283	ORPHA:444077
27125	AFF4	HP:0006434	Hypoplasia of proximal radius	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000252	Microcephaly	HP:0040282	ORPHA:444077
27125	AFF4	HP:0000252	Microcephaly	1/3	OMIM:616368
27125	AFF4	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000218	High palate	HP:0040283	ORPHA:444077
27125	AFF4	HP:0030043	Hip subluxation	HP:0040283	ORPHA:444077
27125	AFF4	HP:0001513	Obesity	3/3	OMIM:616368
27125	AFF4	HP:0001513	Obesity	HP:0040281	ORPHA:444077
27125	AFF4	HP:0000378	Cupped ear	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000391	Thickened helices	1/3	OMIM:616368
27125	AFF4	HP:0006528	Chronic lung disease	-	OMIM:616368
27125	AFF4	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:444077
27125	AFF4	HP:0001607	Subglottic stenosis	HP:0040283	ORPHA:444077
27125	AFF4	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:444077
27125	AFF4	HP:0001601	Laryngomalacia	2/3	OMIM:616368
27125	AFF4	HP:0000365	Hearing impairment	1/3	OMIM:616368
27125	AFF4	HP:0000365	Hearing impairment	HP:0040282	ORPHA:444077
27125	AFF4	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000341	Narrow forehead	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000343	Long philtrum	1/3	OMIM:616368
27125	AFF4	HP:0000343	Long philtrum	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000347	Micrognathia	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000316	Hypertelorism	1/3	OMIM:616368
27125	AFF4	HP:0001643	Patent ductus arteriosus	3/3	OMIM:616368
27125	AFF4	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:444077
27125	AFF4	HP:0000311	Round face	HP:0040282	ORPHA:444077
27125	AFF4	HP:0000311	Round face	2/3	OMIM:616368
27125	AFF4	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:444077
27125	AFF4	HP:0001655	Patent foramen ovale	1/3	OMIM:616368
27125	AFF4	HP:0001629	Ventricular septal defect	2/3	OMIM:616368
27125	AFF4	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:444077
27125	AFF4	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:444077
27125	AFF4	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000486	Strabismus	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000463	Anteverted nares	1/3	OMIM:616368
27125	AFF4	HP:0000463	Anteverted nares	HP:0040281	ORPHA:444077
27125	AFF4	HP:0000410	Mixed hearing impairment	HP:0040283	ORPHA:444077
27125	AFF4	HP:0001744	Splenomegaly	1/3	OMIM:616368
27125	AFF4	HP:0000518	Cataract	1/3	OMIM:616368
27125	AFF4	HP:0000518	Cataract	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000527	Long eyelashes	HP:0040281	ORPHA:444077
27125	AFF4	HP:0000527	Long eyelashes	1/3	OMIM:616368
27125	AFF4	HP:0000520	Proptosis	1/3	OMIM:616368
27125	AFF4	HP:0000520	Proptosis	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000508	Ptosis	HP:0040283	ORPHA:444077
27125	AFF4	HP:0001800	Hypoplastic toenails	HP:0040283	ORPHA:444077
27125	AFF4	HP:0011221	Vertical forehead creases	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000574	Thick eyebrow	3/3	OMIM:616368
27125	AFF4	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:444077
27125	AFF4	HP:0000545	Myopia	HP:0040283	ORPHA:444077
27130	INVS	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
27130	INVS	HP:0003774	Stage 5 chronic kidney disease	5/5	OMIM:602088
27130	INVS	HP:0003774	Stage 5 chronic kidney disease	HP:0040281	ORPHA:3156
27130	INVS	HP:0001251	Ataxia	HP:0040283	ORPHA:3156
27130	INVS	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3156
27130	INVS	HP:0000090	Nephronophthisis	HP:0040282	ORPHA:3156
27130	INVS	HP:0000090	Nephronophthisis	-	OMIM:602088
27130	INVS	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
27130	INVS	HP:0000007	Autosomal recessive inheritance	-	OMIM:602088
27130	INVS	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
27130	INVS	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:3156
27130	INVS	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
27130	INVS	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
27130	INVS	HP:0000105	Enlarged kidney	-	OMIM:602088
27130	INVS	HP:0005976	Hyperkalemic metabolic acidosis	-	OMIM:602088
27130	INVS	HP:0002089	Pulmonary hypoplasia	-	OMIM:602088
27130	INVS	HP:0002093	Respiratory insufficiency	-	OMIM:602088
27130	INVS	HP:0010444	Pulmonic regurgitation	-	OMIM:602088
27130	INVS	HP:0002153	Hyperkalemia	-	OMIM:602088
27130	INVS	HP:0004743	Chronic tubulointerstitial nephritis	-	OMIM:602088
27130	INVS	HP:0004734	Renal cortical microcysts	3/6	OMIM:602088
27130	INVS	HP:0008209	Premature ovarian insufficiency	HP:0040282	ORPHA:3156
27130	INVS	HP:0004719	Hyperechogenic kidneys	-	OMIM:602088
27130	INVS	HP:0010579	Cone-shaped epiphysis	HP:0040283	ORPHA:3156
27130	INVS	HP:0003621	Juvenile onset	8/19	OMIM:180100
27130	INVS	HP:0005564	Absence of renal corticomedullary differentiation	-	OMIM:602088
27130	INVS	HP:0012622	Chronic kidney disease	HP:0040281	ORPHA:3156
27130	INVS	HP:0000662	Nyctalopia	26/28	OMIM:180100
27130	INVS	HP:0004322	Short stature	HP:0040281	ORPHA:3156
27130	INVS	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:3156
27130	INVS	HP:0011463	Childhood onset	3/19	OMIM:180100
27130	INVS	HP:0011462	Young adult onset	8/19	OMIM:180100
27130	INVS	HP:0000822	Hypertension	HP:0040281	ORPHA:3156
27130	INVS	HP:0000822	Hypertension	3/7	OMIM:602088
27130	INVS	HP:0003259	Elevated circulating creatinine concentration	-	OMIM:602088
27130	INVS	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:3156
27130	INVS	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
27130	INVS	HP:0002878	Respiratory failure	-	OMIM:602088
27130	INVS	HP:0001562	Oligohydramnios	-	OMIM:602088
27130	INVS	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
27130	INVS	HP:0001696	Situs inversus totalis	1/7	OMIM:602088
27130	INVS	HP:0000518	Cataract	HP:0040283	ORPHA:3156
27130	INVS	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
27130	INVS	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:3156
27130	INVS	HP:0000505	Visual impairment	HP:0040281	ORPHA:3156
27130	INVS	HP:0000575	Scotoma	5/18	OMIM:180100
27130	INVS	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:3156
27130	INVS	HP:0000543	Optic disc pallor	1/1	OMIM:180100
27130	INVS	HP:0000545	Myopia	-	OMIM:180100
27133	KCNH5	HP:0020221	Clonic seizure	3/3	OMIM:620537
27133	KCNH5	HP:0020217	Focal aware motor seizure	1/17	OMIM:620537
27133	KCNH5	HP:0001270	Motor delay	2/4	OMIM:620537
27133	KCNH5	HP:0001252	Hypotonia	4/20	OMIM:620537
27133	KCNH5	HP:0001249	Intellectual disability	10/13	OMIM:620537
27133	KCNH5	HP:0001263	Global developmental delay	6/7	OMIM:620537
27133	KCNH5	HP:0007359	Focal-onset seizure	2/2	OMIM:620537
27133	KCNH5	HP:0007334	Bilateral tonic-clonic seizure with focal onset	6/21	OMIM:620537
27133	KCNH5	HP:0000006	Autosomal dominant inheritance	-	OMIM:620537
27133	KCNH5	HP:0000158	Macroglossia	1/1	OMIM:620537
27133	KCNH5	HP:0002069	Bilateral tonic-clonic seizure	13/13	OMIM:620537
27133	KCNH5	HP:0002059	Cerebral atrophy	2/15	OMIM:620537
27133	KCNH5	HP:0002121	Generalized non-motor (absence) seizure	1/22	OMIM:620537
27133	KCNH5	HP:0002133	Status epilepticus	3/22	OMIM:620537
27133	KCNH5	HP:0002188	Delayed CNS myelination	1/15	OMIM:620537
27133	KCNH5	HP:0003593	Infantile onset	19/21	OMIM:620537
27133	KCNH5	HP:0003584	Late onset	1/17	OMIM:620537
27133	KCNH5	HP:0200134	Epileptic encephalopathy	14/17	OMIM:620537
27133	KCNH5	HP:0007018	Attention deficit hyperactivity disorder	1/1	OMIM:620537
27133	KCNH5	HP:0007099	Chiari type I malformation	1/15	OMIM:620537
27133	KCNH5	HP:0002376	Developmental regression	3/19	OMIM:620537
27133	KCNH5	HP:0003623	Neonatal onset	1/1	OMIM:620537
27133	KCNH5	HP:0006813	Focal hemiclonic seizure	1/22	OMIM:620537
27133	KCNH5	HP:0000750	Delayed speech and language development	11/12	OMIM:620537
27133	KCNH5	HP:0000729	Autistic behavior	2/2	OMIM:620537
27133	KCNH5	HP:0011463	Childhood onset	1/17	OMIM:620537
27133	KCNH5	HP:0030890	Hyperintensity of cerebral white matter on MRI	1/4	OMIM:620537
27133	KCNH5	HP:0032712	Focal impaired awareness motor seizure	4/16	OMIM:620537
27133	KCNH5	HP:0032794	Myoclonic seizure	4/22	OMIM:620537
27133	KCNH5	HP:0011167	Focal tonic seizure	2/17	OMIM:620537
27133	KCNH5	HP:0011153	Focal motor seizure	5/5	OMIM:620537
27133	KCNH5	HP:0012469	Infantile spasms	1/5	OMIM:620537
27145	FILIP1	HP:0001181	Adducted thumb	1/5	OMIM:620775
27145	FILIP1	HP:0001159	Syndactyly	1/5	OMIM:620775
27145	FILIP1	HP:0003738	Exercise-induced myalgia	1/1	OMIM:620775
27145	FILIP1	HP:0001270	Motor delay	7/10	OMIM:620775
27145	FILIP1	HP:0001250	Seizure	1/5	OMIM:620775
27145	FILIP1	HP:0001252	Hypotonia	5/8	OMIM:620775
27145	FILIP1	HP:0001249	Intellectual disability	5/5	OMIM:620775
27145	FILIP1	HP:0001263	Global developmental delay	7/10	OMIM:620775
27145	FILIP1	HP:0001239	Wrist flexion contracture	4/5	OMIM:620775
27145	FILIP1	HP:0002507	Semilobar holoprosencephaly	1/5	OMIM:620775
27145	FILIP1	HP:0008800	Limited hip movement	2/2	OMIM:620775
27145	FILIP1	HP:0000054	Micropenis	1/3	OMIM:620775
27145	FILIP1	HP:0001382	Joint hypermobility	1/5	OMIM:620775
27145	FILIP1	HP:0000028	Cryptorchidism	1/3	OMIM:620775
27145	FILIP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620775
27145	FILIP1	HP:0002650	Scoliosis	7/8	OMIM:620775
27145	FILIP1	HP:0000193	Bifid uvula	2/5	OMIM:620775
27145	FILIP1	HP:0000160	Narrow mouth	0/5	OMIM:620775
27145	FILIP1	HP:0000175	Cleft palate	1/5	OMIM:620775
27145	FILIP1	HP:0410030	Cleft lip	1/5	OMIM:620775
27145	FILIP1	HP:0002000	Short columella	1/5	OMIM:620775
27145	FILIP1	HP:0003306	Spinal rigidity	2/2	OMIM:620775
27145	FILIP1	HP:0011816	Parietal encephalocele	1/5	OMIM:620775
27145	FILIP1	HP:0003391	Gowers sign	1/1	OMIM:620775
27145	FILIP1	HP:0008180	Mildly elevated creatine kinase	1/1	OMIM:620775
27145	FILIP1	HP:0010557	Overlapping fingers	1/5	OMIM:620775
27145	FILIP1	HP:0010501	Limitation of knee mobility	1/1	OMIM:620775
27145	FILIP1	HP:0003577	Congenital onset	10/10	OMIM:620775
27145	FILIP1	HP:0034665	Shoulder contracture	3/5	OMIM:620775
27145	FILIP1	HP:0034671	Knee contracture	7/9	OMIM:620775
27145	FILIP1	HP:0010648	Dermal translucency	4/5	OMIM:620775
27145	FILIP1	HP:0003691	Scapular winging	4/4	OMIM:620775
27145	FILIP1	HP:0005656	Positional foot deformity	2/2	OMIM:620775
27145	FILIP1	HP:0004322	Short stature	1/4	OMIM:620775
27145	FILIP1	HP:0100021	Cerebral palsy	1/10	OMIM:620775
27145	FILIP1	HP:0000767	Pectus excavatum	1/1	OMIM:620775
27145	FILIP1	HP:0000750	Delayed speech and language development	8/10	OMIM:620775
27145	FILIP1	HP:0000873	Diabetes insipidus	1/5	OMIM:620775
27145	FILIP1	HP:0034391	Elbow contracture	8/9	OMIM:620775
27145	FILIP1	HP:0003273	Hip contracture	4/6	OMIM:620775
27145	FILIP1	HP:0000954	Single transverse palmar crease	1/5	OMIM:620775
27145	FILIP1	HP:0000286	Epicanthus	2/6	OMIM:620775
27145	FILIP1	HP:0000294	Low anterior hairline	1/5	OMIM:620775
27145	FILIP1	HP:0000276	Long face	3/5	OMIM:620775
27145	FILIP1	HP:0002808	Kyphosis	3/6	OMIM:620775
27145	FILIP1	HP:0000252	Microcephaly	5/9	OMIM:620775
27145	FILIP1	HP:0000218	High palate	4/7	OMIM:620775
27145	FILIP1	HP:0001562	Oligohydramnios	1/4	OMIM:620775
27145	FILIP1	HP:0001558	Decreased fetal movement	1/4	OMIM:620775
27145	FILIP1	HP:0012385	Camptodactyly	5/5	OMIM:620775
27145	FILIP1	HP:0000343	Long philtrum	1/5	OMIM:620775
27145	FILIP1	HP:0002996	Limited elbow movement	5/5	OMIM:620775
27145	FILIP1	HP:0001684	Secundum atrial septal defect	1/5	OMIM:620775
27145	FILIP1	HP:0000347	Micrognathia	4/5	OMIM:620775
27145	FILIP1	HP:0000316	Hypertelorism	2/2	OMIM:620775
27145	FILIP1	HP:0000325	Triangular face	1/5	OMIM:620775
27145	FILIP1	HP:0001629	Ventricular septal defect	1/5	OMIM:620775
27145	FILIP1	HP:0005280	Depressed nasal bridge	1/1	OMIM:620775
27145	FILIP1	HP:0000494	Downslanted palpebral fissures	5/6	OMIM:620775
27145	FILIP1	HP:0000463	Anteverted nares	1/5	OMIM:620775
27145	FILIP1	HP:0000475	Broad neck	1/5	OMIM:620775
27145	FILIP1	HP:0000470	Short neck	1/5	OMIM:620775
27145	FILIP1	HP:0000465	Webbed neck	5/7	OMIM:620775
27145	FILIP1	HP:0000448	Prominent nose	1/5	OMIM:620775
27145	FILIP1	HP:0001762	Talipes equinovarus	2/6	OMIM:620775
27145	FILIP1	HP:0000431	Wide nasal bridge	1/1	OMIM:620775
27145	FILIP1	HP:0001838	Rocker bottom foot	1/5	OMIM:620775
27145	FILIP1	HP:0000508	Ptosis	2/2	OMIM:620775
27145	FILIP1	HP:0000505	Visual impairment	1/5	OMIM:620775
27148	STK36	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
27148	STK36	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
27148	STK36	HP:0001217	Clubbing	HP:0040283	ORPHA:244
27148	STK36	HP:0032341	Reduced forced vital capacity	1/1	OMIM:619436
27148	STK36	HP:0032342	Reduced forced expiratory volume in one second	1/1	OMIM:619436
27148	STK36	HP:0000007	Autosomal recessive inheritance	-	OMIM:619436
27148	STK36	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
27148	STK36	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
27148	STK36	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
27148	STK36	HP:0031245	Productive cough	HP:0040282	ORPHA:244
27148	STK36	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
27148	STK36	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
27148	STK36	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
27148	STK36	HP:0002110	Bronchiectasis	1/1	OMIM:619436
27148	STK36	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
27148	STK36	HP:0008222	Female infertility	HP:0040283	ORPHA:244
27148	STK36	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
27148	STK36	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
27148	STK36	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
27148	STK36	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
27148	STK36	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
27148	STK36	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
27148	STK36	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
27148	STK36	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
27148	STK36	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
27148	STK36	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
27148	STK36	HP:0030828	Wheezing	HP:0040283	ORPHA:244
27148	STK36	HP:0003251	Male infertility	HP:0040282	ORPHA:244
27148	STK36	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
27148	STK36	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
27148	STK36	HP:0012265	Ciliary dyskinesia	1/1	OMIM:619436
27148	STK36	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
27148	STK36	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
27148	STK36	HP:0012207	Reduced sperm motility	1/1	OMIM:619436
27148	STK36	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
27148	STK36	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
27148	STK36	HP:0006532	Recurrent pneumonia	1/1	OMIM:619436
27148	STK36	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
27148	STK36	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
27148	STK36	HP:0000365	Hearing impairment	1/1	OMIM:619436
27148	STK36	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
27148	STK36	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
27148	STK36	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
27148	STK36	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
27148	STK36	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
27148	STK36	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
27148	STK36	HP:0000403	Recurrent otitis media	1/1	OMIM:619436
27148	STK36	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
27148	STK36	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
27148	STK36	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
27148	STK36	HP:0011108	Recurrent sinusitis	1/1	OMIM:619436
27148	STK36	HP:0001746	Asplenia	HP:0040284	ORPHA:244
27148	STK36	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
27148	STK36	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
27148	STK36	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
27148	STK36	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
27148	STK36	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
27151	CPAMD8	HP:0009917	Persistent pupillary membrane	1/4	OMIM:617319
27151	CPAMD8	HP:0009918	Ectopia pupillae	4/4	OMIM:617319
27151	CPAMD8	HP:0025358	Uveal ectropion	3/4	OMIM:617319
27151	CPAMD8	HP:0012040	Corneal stromal edema	0/3	OMIM:617319
27151	CPAMD8	HP:0000007	Autosomal recessive inheritance	-	OMIM:617319
27151	CPAMD8	HP:0007676	Hypoplasia of the iris	3/4	OMIM:617319
27151	CPAMD8	HP:0001093	Optic nerve dysplasia	1/3	OMIM:617319
27151	CPAMD8	HP:0001083	Ectopia lentis	3/3	OMIM:617319
27151	CPAMD8	HP:0100693	Iridodonesis	3/4	OMIM:617319
27151	CPAMD8	HP:0011463	Childhood onset	-	OMIM:617319
27151	CPAMD8	HP:0012805	Iris transillumination defect	3/4	OMIM:617319
27151	CPAMD8	HP:0012376	Microphakia	1/3	OMIM:617319
27151	CPAMD8	HP:0007957	Corneal opacity	0/4	OMIM:617319
27151	CPAMD8	HP:0000518	Cataract	4/4	OMIM:617319
27152	INTU	HP:0001153	Septate vagina	1/2	OMIM:617925
27152	INTU	HP:0009944	Partial duplication of thumb phalanx	1/1	OMIM:617926
27152	INTU	HP:0008551	Microtia	-	OMIM:617925
27152	INTU	HP:0003762	Uterus didelphys	1/1	OMIM:617925
27152	INTU	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
27152	INTU	HP:0001293	Cranial nerve compression	-	OMIM:131300
27152	INTU	HP:0100818	Long thorax	-	OMIM:617925
27152	INTU	HP:0001252	Hypotonia	2/7	OMIM:615777
27152	INTU	HP:0001249	Intellectual disability	5/7	OMIM:615777
27152	INTU	HP:0001263	Global developmental delay	-	OMIM:615777
27152	INTU	HP:0008749	Laryngeal hypoplasia	-	OMIM:617925
27152	INTU	HP:0002515	Waddling gait	54/102	OMIM:131300
27152	INTU	HP:0003811	Neonatal death	2/2	OMIM:617925
27152	INTU	HP:0000089	Renal hypoplasia	1/1	OMIM:617926
27152	INTU	HP:0000054	Micropenis	1/1	OMIM:617925
27152	INTU	HP:0000054	Micropenis	1/1	OMIM:617926
27152	INTU	HP:0001382	Joint hypermobility	-	OMIM:615777
27152	INTU	HP:0002694	Sclerosis of skull base	-	OMIM:131300
27152	INTU	HP:0008897	Postnatal growth retardation	-	OMIM:615777
27152	INTU	HP:0006145	Central Y-shaped metacarpal	1/1	OMIM:617926
27152	INTU	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
27152	INTU	HP:0001324	Muscle weakness	40/96	OMIM:131300
27152	INTU	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
27152	INTU	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
27152	INTU	HP:0000007	Autosomal recessive inheritance	-	OMIM:617925
27152	INTU	HP:0000007	Autosomal recessive inheritance	-	OMIM:617926
27152	INTU	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
27152	INTU	HP:0002650	Scoliosis	12/14	OMIM:131300
27152	INTU	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
27152	INTU	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
27152	INTU	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
27152	INTU	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
27152	INTU	HP:0000161	Median cleft upper lip	1/1	OMIM:617926
27152	INTU	HP:0000175	Cleft palate	-	OMIM:617925
27152	INTU	HP:0000175	Cleft palate	2/7	OMIM:615777
27152	INTU	HP:0410030	Cleft lip	2/2	OMIM:617925
27152	INTU	HP:0002705	High, narrow palate	1/1	OMIM:617926
27152	INTU	HP:0002023	Anal atresia	2/2	OMIM:617925
27152	INTU	HP:0002007	Frontal bossing	-	OMIM:617925
27152	INTU	HP:0011802	Hamartoma of tongue	2/2	OMIM:617925
27152	INTU	HP:0002089	Pulmonary hypoplasia	-	OMIM:617925
27152	INTU	HP:0003375	Narrow greater sciatic notch	-	OMIM:617925
27152	INTU	HP:0003388	Easy fatigability	36/76	OMIM:131300
27152	INTU	HP:0010442	Polydactyly	1/1	OMIM:617926
27152	INTU	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
27152	INTU	HP:0002119	Ventriculomegaly	1/1	OMIM:617926
27152	INTU	HP:0003429	CNS hypomyelination	1/1	OMIM:617926
27152	INTU	HP:0002162	Low posterior hairline	-	OMIM:617925
27152	INTU	HP:0009577	Short middle phalanx of the 2nd finger	1/1	OMIM:617926
27152	INTU	HP:0100759	Clubbing of fingers	1/1	OMIM:617926
27152	INTU	HP:0003510	Severe short stature	7/7	OMIM:615777
27152	INTU	HP:0002315	Headache	-	OMIM:131300
27152	INTU	HP:0004976	Knee dislocation	6/7	OMIM:615777
27152	INTU	HP:0100628	Esophageal diverticulum	-	OMIM:617925
27152	INTU	HP:0009803	Short phalanx of finger	-	OMIM:615777
27152	INTU	HP:0009763	Limb pain	63/92	OMIM:131300
27152	INTU	HP:0003621	Juvenile onset	-	OMIM:131300
27152	INTU	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
27152	INTU	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
27152	INTU	HP:6001056	Out-toeing	-	OMIM:131300
27152	INTU	HP:0000651	Diplopia	-	OMIM:131300
27152	INTU	HP:0001956	Truncal obesity	2/7	OMIM:615777
27152	INTU	HP:0001903	Anemia	HP:0040283	OMIM:131300
27152	INTU	HP:0010049	Short metacarpal	-	OMIM:615777
27152	INTU	HP:0000678	Dental crowding	-	OMIM:615777
27152	INTU	HP:0000695	Natal tooth	1/2	OMIM:617925
27152	INTU	HP:0000670	Carious teeth	-	OMIM:131300
27152	INTU	HP:0011304	Broad thumb	2/7	OMIM:615777
27152	INTU	HP:0000668	Hypodontia	-	OMIM:615777
27152	INTU	HP:0000664	Synophrys	-	OMIM:615777
27152	INTU	HP:0004325	Decreased body weight	1/1	OMIM:617926
27152	INTU	HP:0004322	Short stature	1/1	OMIM:617926
27152	INTU	HP:0004396	Poor appetite	-	OMIM:131300
27152	INTU	HP:0003038	Fibular hypoplasia	2/2	OMIM:617925
27152	INTU	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
27152	INTU	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
27152	INTU	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
27152	INTU	HP:0003026	Short long bone	7/7	OMIM:615777
27152	INTU	HP:0003026	Short long bone	-	OMIM:617925
27152	INTU	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
27152	INTU	HP:0000767	Pectus excavatum	2/7	OMIM:615777
27152	INTU	HP:0000768	Pectus carinatum	1/7	OMIM:615777
27152	INTU	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
27152	INTU	HP:0000750	Delayed speech and language development	1/1	OMIM:617926
27152	INTU	HP:0000750	Delayed speech and language development	-	OMIM:615777
27152	INTU	HP:0011467	Absent gallbladder	-	OMIM:617925
27152	INTU	HP:0011461	Fetal onset	7/7	OMIM:615777
27152	INTU	HP:0000774	Narrow chest	-	OMIM:617925
27152	INTU	HP:0000774	Narrow chest	2/7	OMIM:615777
27152	INTU	HP:0000773	Short ribs	-	OMIM:617925
27152	INTU	HP:0005736	Short tibia	2/2	OMIM:617925
27152	INTU	HP:0000926	Platyspondyly	1/7	OMIM:615777
27152	INTU	HP:0003173	Hypoplastic pubic bone	2/2	OMIM:617925
27152	INTU	HP:0003186	Inverted nipples	1/1	OMIM:617926
27152	INTU	HP:0003180	Flat acetabular roof	-	OMIM:615777
27152	INTU	HP:0004482	Relative macrocephaly	-	OMIM:615777
27152	INTU	HP:0004491	Large posterior fontanelle	-	OMIM:617925
27152	INTU	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
27152	INTU	HP:0000888	Horizontal ribs	-	OMIM:617925
27152	INTU	HP:0000823	Delayed puberty	-	OMIM:131300
27152	INTU	HP:0000895	Lateral clavicle hook	-	OMIM:617925
27152	INTU	HP:0000894	Short clavicles	-	OMIM:615777
27152	INTU	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
27152	INTU	HP:0100259	Postaxial polydactyly	2/2	OMIM:617925
27152	INTU	HP:0100258	Preaxial polydactyly	2/2	OMIM:617925
27152	INTU	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
27152	INTU	HP:0000286	Epicanthus	1/7	OMIM:615777
27152	INTU	HP:0000280	Coarse facial features	2/7	OMIM:615777
27152	INTU	HP:0000278	Retrognathia	1/1	OMIM:617926
27152	INTU	HP:0000260	Wide anterior fontanel	2/2	OMIM:617925
27152	INTU	HP:0002827	Hip dislocation	3/7	OMIM:615777
27152	INTU	HP:0030084	Clinodactyly	1/1	OMIM:617926
27152	INTU	HP:0000252	Microcephaly	-	OMIM:615777
27152	INTU	HP:0000248	Brachycephaly	-	OMIM:617925
27152	INTU	HP:0002857	Genu valgum	-	OMIM:131300
27152	INTU	HP:0001533	Slender build	-	OMIM:131300
27152	INTU	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
27152	INTU	HP:0007807	Optic nerve compression	-	OMIM:131300
27152	INTU	HP:0012368	Flat face	7/7	OMIM:615777
27152	INTU	HP:0000377	Abnormal pinna morphology	-	OMIM:617925
27152	INTU	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
27152	INTU	HP:0000365	Hearing impairment	10/67	OMIM:131300
27152	INTU	HP:0000365	Hearing impairment	1/1	OMIM:617926
27152	INTU	HP:0000369	Low-set ears	2/2	OMIM:617925
27152	INTU	HP:0000369	Low-set ears	1/1	OMIM:617926
27152	INTU	HP:0001674	Complete atrioventricular canal defect	1/2	OMIM:617925
27152	INTU	HP:0000343	Long philtrum	1/7	OMIM:615777
27152	INTU	HP:0011001	Increased bone mineral density	-	OMIM:131300
27152	INTU	HP:0000347	Micrognathia	1/1	OMIM:617925
27152	INTU	HP:0000316	Hypertelorism	-	OMIM:617925
27152	INTU	HP:0000311	Round face	2/7	OMIM:615777
27152	INTU	HP:0002970	Genu varum	-	OMIM:615777
27152	INTU	HP:0001636	Tetralogy of Fallot	1/2	OMIM:617925
27152	INTU	HP:0001636	Tetralogy of Fallot	1/1	OMIM:617926
27152	INTU	HP:0000303	Mandibular prognathia	-	OMIM:131300
27152	INTU	HP:0006610	Wide intermamillary distance	-	OMIM:617925
27152	INTU	HP:0005285	Absent nasal bridge	-	OMIM:617925
27152	INTU	HP:0005280	Depressed nasal bridge	-	OMIM:617925
27152	INTU	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
27152	INTU	HP:0000470	Short neck	2/2	OMIM:617925
27152	INTU	HP:0000470	Short neck	1/1	OMIM:617926
27152	INTU	HP:0000470	Short neck	1/7	OMIM:615777
27152	INTU	HP:0001769	Broad foot	HP:0040283	OMIM:615777
27152	INTU	HP:0001763	Pes planus	1/7	OMIM:615777
27152	INTU	HP:0000448	Prominent nose	1/1	OMIM:617926
27152	INTU	HP:0005474	Decreased calvarial ossification	2/2	OMIM:617925
27152	INTU	HP:0005487	Prominent metopic ridge	1/1	OMIM:617926
27152	INTU	HP:0001840	Metatarsus adductus	-	OMIM:615777
27152	INTU	HP:0000520	Proptosis	2/4	OMIM:131300
27152	INTU	HP:0000520	Proptosis	7/7	OMIM:615777
27152	INTU	HP:0000592	Blue sclerae	2/7	OMIM:615777
27152	INTU	HP:0000568	Microphthalmia	-	OMIM:617925
27152	INTU	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
27152	INTU	HP:0012514	Lower limb pain	4/4	OMIM:131300
27161	AGO2	HP:0008589	Hypoplastic helices	4/21	OMIM:619149
27161	AGO2	HP:0010863	Receptive language delay	13/13	OMIM:619149
27161	AGO2	HP:0001270	Motor delay	21/21	OMIM:619149
27161	AGO2	HP:0001250	Seizure	8/18	OMIM:619149
27161	AGO2	HP:0001252	Hypotonia	12/21	OMIM:619149
27161	AGO2	HP:0001249	Intellectual disability	21/21	OMIM:619149
27161	AGO2	HP:0001357	Plagiocephaly	5/21	OMIM:619149
27161	AGO2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619149
27161	AGO2	HP:0000194	Open mouth	9/21	OMIM:619149
27161	AGO2	HP:0002793	Abnormal pattern of respiration	5/19	OMIM:619149
27161	AGO2	HP:0002020	Gastroesophageal reflux	7/19	OMIM:619149
27161	AGO2	HP:0002007	Frontal bossing	9/21	OMIM:619149
27161	AGO2	HP:0010537	Wide cranial sutures	1/21	OMIM:619149
27161	AGO2	HP:0003593	Infantile onset	-	OMIM:619149
27161	AGO2	HP:0007018	Attention deficit hyperactivity disorder	8/15	OMIM:619149
27161	AGO2	HP:0011968	Feeding difficulties	12/19	OMIM:619149
27161	AGO2	HP:0004209	Clinodactyly of the 5th finger	3/21	OMIM:619149
27161	AGO2	HP:0000689	Dental malocclusion	6/21	OMIM:619149
27161	AGO2	HP:0000750	Delayed speech and language development	21/21	OMIM:619149
27161	AGO2	HP:0000718	Aggressive behavior	4/17	OMIM:619149
27161	AGO2	HP:0000729	Autistic behavior	9/16	OMIM:619149
27161	AGO2	HP:0030799	Scaphocephaly	1/21	OMIM:619149
27161	AGO2	HP:0000286	Epicanthus	11/21	OMIM:619149
27161	AGO2	HP:0000219	Thin upper lip vermilion	11/21	OMIM:619149
27161	AGO2	HP:0000396	Overfolded helix	1/21	OMIM:619149
27161	AGO2	HP:0000365	Hearing impairment	1/21	OMIM:619149
27161	AGO2	HP:0001647	Bicuspid aortic valve	1/21	OMIM:619149
27161	AGO2	HP:0001643	Patent ductus arteriosus	1/21	OMIM:619149
27161	AGO2	HP:0001642	Pulmonic stenosis	2/21	OMIM:619149
27161	AGO2	HP:0001655	Patent foramen ovale	3/21	OMIM:619149
27161	AGO2	HP:0001631	Atrial septal defect	1/21	OMIM:619149
27161	AGO2	HP:0000486	Strabismus	7/21	OMIM:619149
27161	AGO2	HP:0000490	Deeply set eye	9/21	OMIM:619149
27161	AGO2	HP:0000431	Wide nasal bridge	3/21	OMIM:619149
27161	AGO2	HP:0000505	Visual impairment	6/21	OMIM:619149
27161	AGO2	HP:0000582	Upslanted palpebral fissure	6/21	OMIM:619149
27178	IL37	HP:0001270	Motor delay	1/1	OMIM:619398
27178	IL37	HP:0000007	Autosomal recessive inheritance	-	OMIM:619398
27178	IL37	HP:0003593	Infantile onset	1/1	OMIM:619398
27178	IL37	HP:0003565	Elevated erythrocyte sedimentation rate	1/1	OMIM:619398
27178	IL37	HP:0025085	Bloody diarrhea	1/1	OMIM:619398
27178	IL37	HP:0001974	Increased total leukocyte count	1/1	OMIM:619398
27178	IL37	HP:0001903	Anemia	1/1	OMIM:619398
27178	IL37	HP:0100279	Ulcerative colitis	1/1	OMIM:619398
27178	IL37	HP:0011227	Elevated circulating C-reactive protein concentration	1/1	OMIM:619398
27183	VPS4A	HP:0010864	Intellectual disability, severe	6/6	OMIM:619273
27183	VPS4A	HP:0001270	Motor delay	5/5	OMIM:619273
27183	VPS4A	HP:0001250	Seizure	3/6	OMIM:619273
27183	VPS4A	HP:0001252	Hypotonia	5/6	OMIM:619273
27183	VPS4A	HP:0001251	Ataxia	2/4	OMIM:619273
27183	VPS4A	HP:0001257	Spasticity	4/5	OMIM:619273
27183	VPS4A	HP:0001332	Dystonia	5/6	OMIM:619273
27183	VPS4A	HP:0033725	Thin corpus callosum	2/6	OMIM:619273
27183	VPS4A	HP:0001344	Absent speech	2/5	OMIM:619273
27183	VPS4A	HP:0000006	Autosomal dominant inheritance	-	OMIM:619273
27183	VPS4A	HP:0001320	Cerebellar vermis hypoplasia	1/6	OMIM:619273
27183	VPS4A	HP:0001321	Cerebellar hypoplasia	2/6	OMIM:619273
27183	VPS4A	HP:0000135	Hypogonadism	1/4	OMIM:619273
27183	VPS4A	HP:0025405	Visual fixation instability	3/6	OMIM:619273
27183	VPS4A	HP:0001414	Microvesicular hepatic steatosis	1/5	OMIM:619273
27183	VPS4A	HP:0002719	Recurrent infections	1/5	OMIM:619273
27183	VPS4A	HP:0002072	Chorea	1/5	OMIM:619273
27183	VPS4A	HP:0002059	Cerebral atrophy	1/6	OMIM:619273
27183	VPS4A	HP:0002126	Polymicrogyria	1/6	OMIM:619273
27183	VPS4A	HP:0002240	Hepatomegaly	4/5	OMIM:619273
27183	VPS4A	HP:0011968	Feeding difficulties	4/6	OMIM:619273
27183	VPS4A	HP:0002360	Sleep abnormality	4/4	OMIM:619273
27183	VPS4A	HP:0100613	Death in early adulthood	2/6	OMIM:619273
27183	VPS4A	HP:0001081	Cholelithiasis	1/5	OMIM:619273
27183	VPS4A	HP:0006879	Pontocerebellar atrophy	1/6	OMIM:619273
27183	VPS4A	HP:0011344	Severe global developmental delay	6/6	OMIM:619273
27183	VPS4A	HP:0000750	Delayed speech and language development	5/5	OMIM:619273
27183	VPS4A	HP:0011451	Primary microcephaly	3/6	OMIM:619273
27183	VPS4A	HP:0009125	Lipodystrophy	1/5	OMIM:619273
27183	VPS4A	HP:0030854	Scleral staphyloma	1/3	OMIM:619273
27183	VPS4A	HP:0000252	Microcephaly	6/6	OMIM:619273
27183	VPS4A	HP:0000407	Sensorineural hearing impairment	2/5	OMIM:619273
27183	VPS4A	HP:0000519	Developmental cataract	4/5	OMIM:619273
27183	VPS4A	HP:0000505	Visual impairment	6/6	OMIM:619273
27183	VPS4A	HP:0000556	Retinal dystrophy	3/5	OMIM:619273
27184	DISC2	HP:0410291	Negativism	-	OMIM:181500
27184	DISC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:181500
27184	DISC2	HP:0100753	Schizophrenia	-	OMIM:181500
27184	DISC2	HP:0007086	Social and occupational deterioration	-	OMIM:181500
27184	DISC2	HP:0002353	EEG abnormality	-	OMIM:181500
27184	DISC2	HP:0000738	Hallucinations	-	OMIM:181500
27184	DISC2	HP:0000746	Delusion	-	OMIM:181500
27199	OXGR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620374
27199	OXGR1	HP:0000121	Nephrocalcinosis	6/11	OMIM:620374
27199	OXGR1	HP:0003596	Middle age onset	1/6	OMIM:620374
27199	OXGR1	HP:0003584	Late onset	1/6	OMIM:620374
27199	OXGR1	HP:0003621	Juvenile onset	2/6	OMIM:620374
27199	OXGR1	HP:0011462	Young adult onset	2/6	OMIM:620374
27199	OXGR1	HP:0000787	Nephrolithiasis	5/11	OMIM:620374
27199	OXGR1	HP:0003159	Hyperoxaluria	5/11	OMIM:620374
27199	OXGR1	HP:0012405	Hypocitraturia	4/11	OMIM:620374
27229	TUBGCP4	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
27229	TUBGCP4	HP:0001276	Hypertonia	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0001250	Seizure	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0001263	Global developmental delay	-	OMIM:616335
27229	TUBGCP4	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:616335
27229	TUBGCP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
27229	TUBGCP4	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
27229	TUBGCP4	HP:0002650	Scoliosis	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
27229	TUBGCP4	HP:0007663	Reduced visual acuity	-	OMIM:616335
27229	TUBGCP4	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
27229	TUBGCP4	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0003577	Congenital onset	-	OMIM:616335
27229	TUBGCP4	HP:0003621	Juvenile onset	8/19	OMIM:180100
27229	TUBGCP4	HP:0000639	Nystagmus	-	OMIM:616335
27229	TUBGCP4	HP:0000639	Nystagmus	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0000648	Optic atrophy	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0000662	Nyctalopia	26/28	OMIM:180100
27229	TUBGCP4	HP:0001999	Abnormal facial shape	HP:0040283	OMIM:616335
27229	TUBGCP4	HP:0004322	Short stature	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0011463	Childhood onset	3/19	OMIM:180100
27229	TUBGCP4	HP:0011462	Young adult onset	8/19	OMIM:180100
27229	TUBGCP4	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:2518
27229	TUBGCP4	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
27229	TUBGCP4	HP:0007731	Chorioretinal dysplasia	-	OMIM:616335
27229	TUBGCP4	HP:0000252	Microcephaly	-	OMIM:616335
27229	TUBGCP4	HP:0000252	Microcephaly	HP:0040281	ORPHA:2518
27229	TUBGCP4	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
27229	TUBGCP4	HP:0000340	Sloping forehead	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0000307	Pointed chin	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0000499	Abnormal eyelash morphology	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0000486	Strabismus	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0000411	Protruding ear	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
27229	TUBGCP4	HP:0000505	Visual impairment	-	OMIM:616335
27229	TUBGCP4	HP:0000505	Visual impairment	HP:0040282	ORPHA:2518
27229	TUBGCP4	HP:0000575	Scotoma	5/18	OMIM:180100
27229	TUBGCP4	HP:0000568	Microphthalmia	-	OMIM:616335
27229	TUBGCP4	HP:0000543	Optic disc pallor	1/1	OMIM:180100
27229	TUBGCP4	HP:0000545	Myopia	-	OMIM:180100
27232	GNMT	HP:0000007	Autosomal recessive inheritance	-	OMIM:606664
27232	GNMT	HP:0002240	Hepatomegaly	-	OMIM:606664
27232	GNMT	HP:0003235	Hypermethioninemia	-	OMIM:606664
27232	GNMT	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:606664
27235	COQ2	HP:0002494	Abnormal rapid eye movement sleep	HP:0040282	ORPHA:227510
27235	COQ2	HP:0002494	Abnormal rapid eye movement sleep	HP:0040282	ORPHA:98933
27235	COQ2	HP:0008652	Autonomic erectile dysfunction	HP:0040282	ORPHA:227510
27235	COQ2	HP:0008652	Autonomic erectile dysfunction	HP:0040282	ORPHA:98933
27235	COQ2	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:98933
27235	COQ2	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:227510
27235	COQ2	HP:0003745	Sporadic	-	OMIM:146500
27235	COQ2	HP:0001298	Encephalopathy	-	OMIM:607426
27235	COQ2	HP:0001278	Orthostatic hypotension	-	OMIM:146500
27235	COQ2	HP:0001272	Cerebellar atrophy	1/1	OMIM:607426
27235	COQ2	HP:0001270	Motor delay	-	OMIM:607426
27235	COQ2	HP:0001250	Seizure	-	OMIM:607426
27235	COQ2	HP:0001252	Hypotonia	1/1	OMIM:607426
27235	COQ2	HP:0001251	Ataxia	-	OMIM:607426
27235	COQ2	HP:0001251	Ataxia	-	OMIM:146500
27235	COQ2	HP:0001249	Intellectual disability	-	OMIM:607426
27235	COQ2	HP:0001260	Dysarthria	-	OMIM:146500
27235	COQ2	HP:0001260	Dysarthria	HP:0040283	ORPHA:98933
27235	COQ2	HP:0001260	Dysarthria	HP:0040282	ORPHA:227510
27235	COQ2	HP:0001260	Dysarthria	-	OMIM:607426
27235	COQ2	HP:0001263	Global developmental delay	1/1	OMIM:607426
27235	COQ2	HP:0002572	Episodic vomiting	1/1	OMIM:607426
27235	COQ2	HP:0002542	Olivopontocerebellar atrophy	-	OMIM:146500
27235	COQ2	HP:0002530	Axial dystonia	HP:0040282	ORPHA:227510
27235	COQ2	HP:0002530	Axial dystonia	HP:0040282	ORPHA:98933
27235	COQ2	HP:0002506	Diffuse cerebral atrophy	1/1	OMIM:607426
27235	COQ2	HP:0002505	Loss of ambulation	1/1	OMIM:607426
27235	COQ2	HP:0000097	Focal segmental glomerulosclerosis	1/1	OMIM:607426
27235	COQ2	HP:0000096	Glomerular sclerosis	-	OMIM:607426
27235	COQ2	HP:0000093	Proteinuria	1/1	OMIM:607426
27235	COQ2	HP:0001399	Hepatic failure	-	OMIM:607426
27235	COQ2	HP:0000020	Urinary incontinence	-	OMIM:146500
27235	COQ2	HP:0001347	Hyperreflexia	-	OMIM:146500
27235	COQ2	HP:0001328	Specific learning disability	-	OMIM:607426
27235	COQ2	HP:0000012	Urinary urgency	-	OMIM:146500
27235	COQ2	HP:0000007	Autosomal recessive inheritance	-	OMIM:607426
27235	COQ2	HP:0000007	Autosomal recessive inheritance	-	OMIM:146500
27235	COQ2	HP:0001337	Tremor	-	OMIM:146500
27235	COQ2	HP:0001337	Tremor	1/1	OMIM:607426
27235	COQ2	HP:0000006	Autosomal dominant inheritance	-	OMIM:146500
27235	COQ2	HP:0001336	Myoclonus	1/1	OMIM:607426
27235	COQ2	HP:0001300	Parkinsonism	-	OMIM:146500
27235	COQ2	HP:0001300	Parkinsonism	HP:0040282	ORPHA:98933
27235	COQ2	HP:0001300	Parkinsonism	HP:0040283	ORPHA:227510
27235	COQ2	HP:0000100	Nephrotic syndrome	-	OMIM:607426
27235	COQ2	HP:0002019	Constipation	HP:0040282	ORPHA:98933
27235	COQ2	HP:0002019	Constipation	HP:0040282	ORPHA:227510
27235	COQ2	HP:0002015	Dysphagia	1/1	OMIM:607426
27235	COQ2	HP:0003323	Progressive muscle weakness	-	OMIM:607426
27235	COQ2	HP:0100543	Cognitive impairment	HP:0040283	OMIM:146500
27235	COQ2	HP:0002067	Bradykinesia	-	OMIM:146500
27235	COQ2	HP:0002067	Bradykinesia	HP:0040282	ORPHA:98933
27235	COQ2	HP:0002067	Bradykinesia	HP:0040283	ORPHA:227510
27235	COQ2	HP:0002068	Neuromuscular dysphagia	HP:0040282	ORPHA:227510
27235	COQ2	HP:0002066	Gait ataxia	HP:0040283	ORPHA:98933
27235	COQ2	HP:0002066	Gait ataxia	HP:0040282	ORPHA:227510
27235	COQ2	HP:0002063	Rigidity	-	OMIM:146500
27235	COQ2	HP:0002063	Rigidity	HP:0040282	ORPHA:98933
27235	COQ2	HP:0002063	Rigidity	HP:0040283	ORPHA:227510
27235	COQ2	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:227510
27235	COQ2	HP:0002073	Progressive cerebellar ataxia	HP:0040283	ORPHA:98933
27235	COQ2	HP:0002070	Limb ataxia	HP:0040282	ORPHA:227510
27235	COQ2	HP:0100595	Camptocormia	HP:0040283	ORPHA:227510
27235	COQ2	HP:0100595	Camptocormia	HP:0040283	ORPHA:98933
27235	COQ2	HP:0040293	Right hemiplegia	1/1	OMIM:607426
27235	COQ2	HP:0003487	Babinski sign	-	OMIM:146500
27235	COQ2	HP:0002136	Broad-based gait	HP:0040282	ORPHA:227510
27235	COQ2	HP:0002133	Status epilepticus	1/1	OMIM:607426
27235	COQ2	HP:0002180	Neurodegeneration	-	OMIM:146500
27235	COQ2	HP:0002168	Scanning speech	-	OMIM:607426
27235	COQ2	HP:0002174	Postural tremor	HP:0040282	ORPHA:227510
27235	COQ2	HP:0002174	Postural tremor	HP:0040283	ORPHA:98933
27235	COQ2	HP:0002172	Postural instability	-	OMIM:146500
27235	COQ2	HP:0002172	Postural instability	-	OMIM:607426
27235	COQ2	HP:0002172	Postural instability	HP:0040282	ORPHA:98933
27235	COQ2	HP:0002172	Postural instability	HP:0040282	ORPHA:227510
27235	COQ2	HP:0010545	Downbeat nystagmus	HP:0040282	ORPHA:227510
27235	COQ2	HP:0010536	Central sleep apnea	HP:0040282	ORPHA:227510
27235	COQ2	HP:0010536	Central sleep apnea	HP:0040282	ORPHA:98933
27235	COQ2	HP:0003593	Infantile onset	1/1	OMIM:607426
27235	COQ2	HP:0003581	Adult onset	-	OMIM:146500
27235	COQ2	HP:0002359	Frequent falls	HP:0040282	ORPHA:98933
27235	COQ2	HP:0002359	Frequent falls	HP:0040282	ORPHA:227510
27235	COQ2	HP:0003676	Progressive	-	OMIM:146500
27235	COQ2	HP:0002322	Resting tremor	HP:0040283	ORPHA:227510
27235	COQ2	HP:0002322	Resting tremor	HP:0040282	ORPHA:98933
27235	COQ2	HP:0003652	Recurrent myoglobinuria	-	OMIM:607426
27235	COQ2	HP:0001089	Iris atrophy	-	OMIM:146500
27235	COQ2	HP:0002310	Orofacial dyskinesia	HP:0040282	ORPHA:227510
27235	COQ2	HP:0002310	Orofacial dyskinesia	HP:0040282	ORPHA:98933
27235	COQ2	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	HP:0040282	ORPHA:227510
27235	COQ2	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	HP:0040282	ORPHA:98933
27235	COQ2	HP:0000640	Gaze-evoked nystagmus	HP:0040282	ORPHA:227510
27235	COQ2	HP:0000640	Gaze-evoked nystagmus	-	OMIM:146500
27235	COQ2	HP:0000640	Gaze-evoked nystagmus	HP:0040283	ORPHA:98933
27235	COQ2	HP:0000639	Nystagmus	-	OMIM:607426
27235	COQ2	HP:0001903	Anemia	-	OMIM:607426
27235	COQ2	HP:0012670	Orthostatic syncope	HP:0040282	ORPHA:227510
27235	COQ2	HP:0012670	Orthostatic syncope	HP:0040282	ORPHA:98933
27235	COQ2	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:227510
27235	COQ2	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:98933
27235	COQ2	HP:0000802	Impotence	-	OMIM:146500
27235	COQ2	HP:0000739	Anxiety	HP:0040282	ORPHA:98933
27235	COQ2	HP:0000739	Anxiety	HP:0040282	ORPHA:227510
27235	COQ2	HP:0000741	Apathy	HP:0040283	ORPHA:227510
27235	COQ2	HP:0000741	Apathy	HP:0040282	ORPHA:98933
27235	COQ2	HP:0000716	Depression	HP:0040282	ORPHA:98933
27235	COQ2	HP:0000716	Depression	HP:0040282	ORPHA:227510
27235	COQ2	HP:0003128	Lactic acidosis	-	OMIM:607426
27235	COQ2	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:607426
27235	COQ2	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:607426
27235	COQ2	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:227510
27235	COQ2	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:98933
27235	COQ2	HP:0003202	Skeletal muscle atrophy	-	OMIM:146500
27235	COQ2	HP:0003200	Ragged-red muscle fibers	-	OMIM:607426
27235	COQ2	HP:0010307	Stridor	HP:0040282	ORPHA:227510
27235	COQ2	HP:0010307	Stridor	HP:0040282	ORPHA:98933
27235	COQ2	HP:0000970	Anhidrosis	-	OMIM:146500
27235	COQ2	HP:0000966	Hypohidrosis	-	OMIM:146500
27235	COQ2	HP:0034369	Decreased level of coenzyme Q10 in skeletal muscle	1/1	OMIM:607426
27235	COQ2	HP:0030015	Female anorgasmia	HP:0040282	ORPHA:227510
27235	COQ2	HP:0030015	Female anorgasmia	HP:0040282	ORPHA:98933
27235	COQ2	HP:0012378	Fatigue	-	OMIM:607426
27235	COQ2	HP:0001618	Dysphonia	HP:0040282	ORPHA:227510
27235	COQ2	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	ORPHA:227510
27235	COQ2	HP:0012332	Abnormal autonomic nervous system physiology	-	OMIM:146500
27235	COQ2	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	ORPHA:98933
27235	COQ2	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:607426
27235	COQ2	HP:0005341	Autonomic bladder dysfunction	HP:0040282	ORPHA:227510
27235	COQ2	HP:0005341	Autonomic bladder dysfunction	HP:0040282	ORPHA:98933
27235	COQ2	HP:0000407	Sensorineural hearing impairment	-	OMIM:607426
27235	COQ2	HP:0000510	Rod-cone dystrophy	-	OMIM:607426
27235	COQ2	HP:0000508	Ptosis	-	OMIM:146500
27235	COQ2	HP:0000572	Visual loss	-	OMIM:607426
27235	COQ2	HP:0001876	Pancytopenia	-	OMIM:607426
27238	GPKOW	HP:0001181	Adducted thumb	HP:0040283	ORPHA:2570
27238	GPKOW	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2570
27238	GPKOW	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:2570
27238	GPKOW	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2570
27238	GPKOW	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:2570
27238	GPKOW	HP:0001360	Holoprosencephaly	HP:0040281	ORPHA:2570
27238	GPKOW	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:2570
27238	GPKOW	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:2570
27238	GPKOW	HP:0002103	Abnormal pleura morphology	HP:0040283	ORPHA:2570
27238	GPKOW	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:2570
27238	GPKOW	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:2570
27238	GPKOW	HP:0002324	Hydranencephaly	HP:0040283	ORPHA:2570
27238	GPKOW	HP:0100625	Enlarged thorax	HP:0040282	ORPHA:2570
27238	GPKOW	HP:0002828	Multiple joint contractures	HP:0040281	ORPHA:2570
27238	GPKOW	HP:0000252	Microcephaly	HP:0040281	ORPHA:2570
27238	GPKOW	HP:0001558	Decreased fetal movement	HP:0040281	ORPHA:2570
27238	GPKOW	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:2570
27238	GPKOW	HP:0000369	Low-set ears	HP:0040282	ORPHA:2570
27238	GPKOW	HP:0000340	Sloping forehead	HP:0040282	ORPHA:2570
27238	GPKOW	HP:0000347	Micrognathia	HP:0040283	ORPHA:2570
27238	GPKOW	HP:0000490	Deeply set eye	HP:0040283	ORPHA:2570
27238	GPKOW	HP:0000470	Short neck	HP:0040282	ORPHA:2570
27238	GPKOW	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040281	ORPHA:2570
27238	GPKOW	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:2570
27241	BBS9	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
27241	BBS9	HP:0001156	Brachydactyly	2/2	OMIM:615986
27241	BBS9	HP:0001162	Postaxial hand polydactyly	1/1	OMIM:615986
27241	BBS9	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
27241	BBS9	HP:0001159	Syndactyly	2/2	OMIM:615986
27241	BBS9	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
27241	BBS9	HP:0001250	Seizure	HP:0040283	ORPHA:110
27241	BBS9	HP:0001251	Ataxia	HP:0040283	ORPHA:110
27241	BBS9	HP:0001249	Intellectual disability	2/4	OMIM:615986
27241	BBS9	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
27241	BBS9	HP:0002591	Polyphagia	1/1	OMIM:615986
27241	BBS9	HP:0001263	Global developmental delay	2/2	OMIM:615986
27241	BBS9	HP:0001257	Spasticity	HP:0040283	ORPHA:110
27241	BBS9	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
27241	BBS9	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
27241	BBS9	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
27241	BBS9	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
27241	BBS9	HP:0000083	Renal insufficiency	1/3	OMIM:615986
27241	BBS9	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
27241	BBS9	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
27241	BBS9	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
27241	BBS9	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
27241	BBS9	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
27241	BBS9	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
27241	BBS9	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
27241	BBS9	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
27241	BBS9	HP:0000007	Autosomal recessive inheritance	-	OMIM:615986
27241	BBS9	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
27241	BBS9	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
27241	BBS9	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
27241	BBS9	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
27241	BBS9	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
27241	BBS9	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
27241	BBS9	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
27241	BBS9	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
27241	BBS9	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
27241	BBS9	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
27241	BBS9	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
27241	BBS9	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
27241	BBS9	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
27241	BBS9	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
27241	BBS9	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
27241	BBS9	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
27241	BBS9	HP:0002099	Asthma	HP:0040283	ORPHA:110
27241	BBS9	HP:0010442	Polydactyly	1/3	OMIM:615986
27241	BBS9	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
27241	BBS9	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
27241	BBS9	HP:0003577	Congenital onset	2/2	OMIM:615986
27241	BBS9	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
27241	BBS9	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
27241	BBS9	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
27241	BBS9	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
27241	BBS9	HP:0003621	Juvenile onset	8/19	OMIM:180100
27241	BBS9	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
27241	BBS9	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
27241	BBS9	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
27241	BBS9	HP:0000618	Blindness	HP:0040282	ORPHA:110
27241	BBS9	HP:0000613	Photophobia	HP:0040282	ORPHA:110
27241	BBS9	HP:0001959	Polydipsia	1/1	OMIM:615986
27241	BBS9	HP:0001956	Truncal obesity	1/1	OMIM:615986
27241	BBS9	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
27241	BBS9	HP:0000691	Microdontia	HP:0040283	ORPHA:110
27241	BBS9	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
27241	BBS9	HP:0000662	Nyctalopia	26/28	OMIM:180100
27241	BBS9	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
27241	BBS9	HP:0004322	Short stature	HP:0040282	ORPHA:110
27241	BBS9	HP:0003074	Hyperglycemia	1/1	OMIM:615986
27241	BBS9	HP:0000739	Anxiety	HP:0040283	ORPHA:110
27241	BBS9	HP:0000736	Short attention span	HP:0040282	ORPHA:110
27241	BBS9	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
27241	BBS9	HP:0000750	Delayed speech and language development	2/2	OMIM:615986
27241	BBS9	HP:0000716	Depression	HP:0040282	ORPHA:110
27241	BBS9	HP:0000717	Autism	HP:0040282	ORPHA:110
27241	BBS9	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
27241	BBS9	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
27241	BBS9	HP:0011463	Childhood onset	3/19	OMIM:180100
27241	BBS9	HP:0011462	Young adult onset	8/19	OMIM:180100
27241	BBS9	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
27241	BBS9	HP:0000789	Infertility	HP:0040283	ORPHA:110
27241	BBS9	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
27241	BBS9	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
27241	BBS9	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
27241	BBS9	HP:0000858	Irregular menstruation	1/1	OMIM:615986
27241	BBS9	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
27241	BBS9	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
27241	BBS9	HP:0000822	Hypertension	HP:0040282	ORPHA:110
27241	BBS9	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
27241	BBS9	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
27241	BBS9	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
27241	BBS9	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
27241	BBS9	HP:0100259	Postaxial polydactyly	2/2	OMIM:615986
27241	BBS9	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
27241	BBS9	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
27241	BBS9	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:615986
27241	BBS9	HP:0000218	High palate	HP:0040282	ORPHA:110
27241	BBS9	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
27241	BBS9	HP:0001513	Obesity	HP:0040281	ORPHA:110
27241	BBS9	HP:0001513	Obesity	3/5	OMIM:615986
27241	BBS9	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
27241	BBS9	HP:0007843	Attenuation of retinal blood vessels	1/1	OMIM:615986
27241	BBS9	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
27241	BBS9	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
27241	BBS9	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
27241	BBS9	HP:0000388	Otitis media	HP:0040283	ORPHA:110
27241	BBS9	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
27241	BBS9	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
27241	BBS9	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
27241	BBS9	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
27241	BBS9	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
27241	BBS9	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
27241	BBS9	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
27241	BBS9	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
27241	BBS9	HP:0000400	Macrotia	HP:0040283	ORPHA:110
27241	BBS9	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
27241	BBS9	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
27241	BBS9	HP:0000483	Astigmatism	1/2	OMIM:615986
27241	BBS9	HP:0000486	Strabismus	HP:0040283	ORPHA:110
27241	BBS9	HP:0000486	Strabismus	1/2	OMIM:615986
27241	BBS9	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
27241	BBS9	HP:0000470	Short neck	HP:0040283	ORPHA:110
27241	BBS9	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
27241	BBS9	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
27241	BBS9	HP:0000518	Cataract	HP:0040283	ORPHA:110
27241	BBS9	HP:0000518	Cataract	1/2	OMIM:615986
27241	BBS9	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
27241	BBS9	HP:0000510	Rod-cone dystrophy	4/4	OMIM:615986
27241	BBS9	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
27241	BBS9	HP:0001830	Postaxial foot polydactyly	1/1	OMIM:615986
27241	BBS9	HP:0000575	Scotoma	5/18	OMIM:180100
27241	BBS9	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
27241	BBS9	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
27241	BBS9	HP:0000546	Retinal degeneration	2/2	OMIM:615986
27241	BBS9	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
27241	BBS9	HP:0000543	Optic disc pallor	1/1	OMIM:180100
27241	BBS9	HP:0000545	Myopia	-	OMIM:180100
27245	AHDC1	HP:0001182	Tapered finger	4/5	OMIM:615829
27245	AHDC1	HP:0001156	Brachydactyly	2/2	OMIM:615829
27245	AHDC1	HP:0002465	Poor speech	7/7	OMIM:615829
27245	AHDC1	HP:0002474	Expressive language delay	HP:0040282	ORPHA:412069
27245	AHDC1	HP:0009909	Uplifted earlobe	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0009909	Uplifted earlobe	6/25	OMIM:615829
27245	AHDC1	HP:0007269	Spinal muscular atrophy	2/2	OMIM:615829
27245	AHDC1	HP:0020206	Simple ear	2/8	OMIM:615829
27245	AHDC1	HP:0010864	Intellectual disability, severe	6/15	OMIM:615829
27245	AHDC1	HP:0008551	Microtia	2/11	OMIM:615829
27245	AHDC1	HP:0009879	Simplified gyral pattern	3/8	OMIM:615829
27245	AHDC1	HP:0002421	Poor head control	1/1	OMIM:615829
27245	AHDC1	HP:0002416	Subependymal cysts	1/7	OMIM:615829
27245	AHDC1	HP:0003763	Bruxism	1/5	OMIM:615829
27245	AHDC1	HP:0025267	Snoring	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0025267	Snoring	2/5	OMIM:615829
27245	AHDC1	HP:0001276	Hypertonia	6/11	OMIM:615829
27245	AHDC1	HP:0001274	Agenesis of corpus callosum	1/4	OMIM:615829
27245	AHDC1	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:412069
27245	AHDC1	HP:0001273	Abnormal corpus callosum morphology	1/1	OMIM:615829
27245	AHDC1	HP:0001270	Motor delay	HP:0040281	ORPHA:412069
27245	AHDC1	HP:0001270	Motor delay	9/9	OMIM:615829
27245	AHDC1	HP:0001288	Gait disturbance	2/2	OMIM:615829
27245	AHDC1	HP:0001285	Spastic tetraparesis	1/31	OMIM:615829
27245	AHDC1	HP:0001256	Intellectual disability, mild	4/14	OMIM:615829
27245	AHDC1	HP:0001250	Seizure	HP:0040282	ORPHA:412069
27245	AHDC1	HP:0001250	Seizure	14/30	OMIM:615829
27245	AHDC1	HP:0001252	Hypotonia	HP:0040281	ORPHA:412069
27245	AHDC1	HP:0001252	Hypotonia	1/1	OMIM:615829
27245	AHDC1	HP:0001251	Ataxia	HP:0040282	ORPHA:412069
27245	AHDC1	HP:0001251	Ataxia	14/23	OMIM:615829
27245	AHDC1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:412069
27245	AHDC1	HP:0001249	Intellectual disability	19/19	OMIM:615829
27245	AHDC1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:412069
27245	AHDC1	HP:0001263	Global developmental delay	54/54	OMIM:615829
27245	AHDC1	HP:0031061	Impaired toileting ability	1/1	OMIM:615829
27245	AHDC1	HP:0007359	Focal-onset seizure	1/4	OMIM:615829
27245	AHDC1	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/1	OMIM:615829
27245	AHDC1	HP:0001212	Prominent fingertip pads	1/4	OMIM:615829
27245	AHDC1	HP:0001374	Congenital hip dislocation	1/1	OMIM:615829
27245	AHDC1	HP:0025336	Delayed ability to sit	11/12	OMIM:615829
27245	AHDC1	HP:0000054	Micropenis	1/2	OMIM:615829
27245	AHDC1	HP:0025335	Delayed ability to stand	1/1	OMIM:615829
27245	AHDC1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:412069
27245	AHDC1	HP:0001382	Joint hypermobility	17/18	OMIM:615829
27245	AHDC1	HP:0000023	Inguinal hernia	3/9	OMIM:615829
27245	AHDC1	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0001363	Craniosynostosis	0/5	OMIM:615829
27245	AHDC1	HP:0001357	Plagiocephaly	4/12	OMIM:615829
27245	AHDC1	HP:0000028	Cryptorchidism	2/6	OMIM:615829
27245	AHDC1	HP:0033725	Thin corpus callosum	12/17	OMIM:615829
27245	AHDC1	HP:0001344	Absent speech	12/34	OMIM:615829
27245	AHDC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615829
27245	AHDC1	HP:0001336	Myoclonus	1/1	OMIM:615829
27245	AHDC1	HP:0002650	Scoliosis	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0002650	Scoliosis	16/39	OMIM:615829
27245	AHDC1	HP:0002643	Neonatal respiratory distress	1/1	OMIM:615829
27245	AHDC1	HP:0000160	Narrow mouth	1/11	OMIM:615829
27245	AHDC1	HP:0000175	Cleft palate	1/16	OMIM:615829
27245	AHDC1	HP:0000154	Wide mouth	1/1	OMIM:615829
27245	AHDC1	HP:0005001	Recurrent patellar dislocation	3/12	OMIM:615829
27245	AHDC1	HP:0002781	Upper airway obstruction	HP:0040282	ORPHA:412069
27245	AHDC1	HP:0002781	Upper airway obstruction	3/3	OMIM:615829
27245	AHDC1	HP:0002779	Tracheomalacia	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0002779	Tracheomalacia	1/5	OMIM:615829
27245	AHDC1	HP:0002019	Constipation	1/1	OMIM:615829
27245	AHDC1	HP:0002000	Short columella	2/6	OMIM:615829
27245	AHDC1	HP:0002015	Dysphagia	1/1	OMIM:615829
27245	AHDC1	HP:0002007	Frontal bossing	3/14	OMIM:615829
27245	AHDC1	HP:0003323	Progressive muscle weakness	1/1	OMIM:615829
27245	AHDC1	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:615829
27245	AHDC1	HP:0002067	Bradykinesia	1/1	OMIM:615829
27245	AHDC1	HP:0002066	Gait ataxia	5/13	OMIM:615829
27245	AHDC1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0002079	Hypoplasia of the corpus callosum	7/9	OMIM:615829
27245	AHDC1	HP:0002059	Cerebral atrophy	4/4	OMIM:615829
27245	AHDC1	HP:0003487	Babinski sign	1/1	OMIM:615829
27245	AHDC1	HP:0002119	Ventriculomegaly	1/2	OMIM:615829
27245	AHDC1	HP:0002136	Broad-based gait	1/1	OMIM:615829
27245	AHDC1	HP:0002188	Delayed CNS myelination	7/10	OMIM:615829
27245	AHDC1	HP:0010535	Sleep apnea	9/29	OMIM:615829
27245	AHDC1	HP:0003593	Infantile onset	14/25	OMIM:615829
27245	AHDC1	HP:0003577	Congenital onset	8/21	OMIM:615829
27245	AHDC1	HP:0002240	Hepatomegaly	1/4	OMIM:615829
27245	AHDC1	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0100704	Cerebral visual impairment	4/19	OMIM:615829
27245	AHDC1	HP:0100702	Arachnoid cyst	2/9	OMIM:615829
27245	AHDC1	HP:0100710	Impulsivity	3/6	OMIM:615829
27245	AHDC1	HP:0100716	Self-injurious behavior	9/14	OMIM:615829
27245	AHDC1	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0004887	Respiratory failure requiring assisted ventilation	1/1	OMIM:615829
27245	AHDC1	HP:0002280	Enlarged cisterna magna	3/3	OMIM:615829
27245	AHDC1	HP:0010674	Abnormal curvature of the vertebral column	1/1	OMIM:615829
27245	AHDC1	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:615829
27245	AHDC1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:412069
27245	AHDC1	HP:0011968	Feeding difficulties	10/15	OMIM:615829
27245	AHDC1	HP:0001057	Aplasia cutis congenita	3/15	OMIM:615829
27245	AHDC1	HP:0002365	Hypoplasia of the brainstem	1/7	OMIM:615829
27245	AHDC1	HP:0002360	Sleep abnormality	2/2	OMIM:615829
27245	AHDC1	HP:0002376	Developmental regression	1/1	OMIM:615829
27245	AHDC1	HP:0002342	Intellectual disability, moderate	8/13	OMIM:615829
27245	AHDC1	HP:0002353	EEG abnormality	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0002353	EEG abnormality	1/1	OMIM:615829
27245	AHDC1	HP:0010821	Focal emotional seizure with laughing	1/4	OMIM:615829
27245	AHDC1	HP:0010804	Tented upper lip vermilion	3/14	OMIM:615829
27245	AHDC1	HP:0200055	Small hand	2/4	OMIM:615829
27245	AHDC1	HP:0033454	Tube feeding	1/1	OMIM:615829
27245	AHDC1	HP:0007112	Temporal cortical atrophy	1/1	OMIM:615829
27245	AHDC1	HP:0009765	Low hanging columella	1/4	OMIM:615829
27245	AHDC1	HP:0003623	Neonatal onset	11/22	OMIM:615829
27245	AHDC1	HP:0004209	Clinodactyly of the 5th finger	3/12	OMIM:615829
27245	AHDC1	HP:0006808	Cerebral hypomyelination	1/7	OMIM:615829
27245	AHDC1	HP:0011396	Abnormality of the cochlear nerve	1/1	OMIM:615829
27245	AHDC1	HP:0000639	Nystagmus	3/3	OMIM:615829
27245	AHDC1	HP:0000637	Long palpebral fissure	1/11	OMIM:615829
27245	AHDC1	HP:0000646	Amblyopia	1/1	OMIM:615829
27245	AHDC1	HP:0000687	Widely spaced teeth	5/9	OMIM:615829
27245	AHDC1	HP:0011313	Narrow nail	1/1	OMIM:615829
27245	AHDC1	HP:0011318	Bicoronal synostosis	1/1	OMIM:615829
27245	AHDC1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:412069
27245	AHDC1	HP:0000664	Synophrys	3/8	OMIM:615829
27245	AHDC1	HP:0005656	Positional foot deformity	1/4	OMIM:615829
27245	AHDC1	HP:0004322	Short stature	18/43	OMIM:615829
27245	AHDC1	HP:0006970	Periventricular leukomalacia	1/7	OMIM:615829
27245	AHDC1	HP:0006951	Retrocerebellar cyst	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0006951	Retrocerebellar cyst	4/15	OMIM:615829
27245	AHDC1	HP:0006913	Frontal cortical atrophy	1/1	OMIM:615829
27245	AHDC1	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:412069
27245	AHDC1	HP:0031936	Delayed ability to walk	35/40	OMIM:615829
27245	AHDC1	HP:0000752	Hyperactivity	1/1	OMIM:615829
27245	AHDC1	HP:0100021	Cerebral palsy	1/65	OMIM:615829
27245	AHDC1	HP:0000767	Pectus excavatum	2/3	OMIM:615829
27245	AHDC1	HP:0000739	Anxiety	5/7	OMIM:615829
27245	AHDC1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:412069
27245	AHDC1	HP:0000750	Delayed speech and language development	40/40	OMIM:615829
27245	AHDC1	HP:0000718	Aggressive behavior	7/23	OMIM:615829
27245	AHDC1	HP:0000717	Autism	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0000717	Autism	11/28	OMIM:615829
27245	AHDC1	HP:0000729	Autistic behavior	10/15	OMIM:615829
27245	AHDC1	HP:0011477	Upbeat nystagmus	HP:0040282	ORPHA:412069
27245	AHDC1	HP:0011463	Childhood onset	2/6	OMIM:615829
27245	AHDC1	HP:0011448	Ankle clonus	2/2	OMIM:615829
27245	AHDC1	HP:0004443	Lambdoidal craniosynostosis	1/1	OMIM:615829
27245	AHDC1	HP:0004442	Sagittal craniosynostosis	1/9	OMIM:615829
27245	AHDC1	HP:0004440	Coronal craniosynostosis	1/1	OMIM:615829
27245	AHDC1	HP:0000914	Shield chest	1/4	OMIM:615829
27245	AHDC1	HP:0000925	Abnormality of the vertebral column	HP:0040282	ORPHA:412069
27245	AHDC1	HP:0034295	Reduced cerebral white matter volume	4/11	OMIM:615829
27245	AHDC1	HP:0004482	Relative macrocephaly	2/4	OMIM:615829
27245	AHDC1	HP:0000977	Soft skin	3/7	OMIM:615829
27245	AHDC1	HP:0000954	Single transverse palmar crease	5/8	OMIM:615829
27245	AHDC1	HP:0045025	Narrow palpebral fissure	1/1	OMIM:615829
27245	AHDC1	HP:6000995	Subcortical U fiber lesion	1/7	OMIM:615829
27245	AHDC1	HP:0000286	Epicanthus	2/2	OMIM:615829
27245	AHDC1	HP:0000280	Coarse facial features	2/15	OMIM:615829
27245	AHDC1	HP:0025573	Mild myopia	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0000289	Broad philtrum	1/6	OMIM:615829
27245	AHDC1	HP:0000256	Macrocephaly	6/13	OMIM:615829
27245	AHDC1	HP:0000268	Dolichocephaly	1/1	OMIM:615829
27245	AHDC1	HP:0007754	Macular dystrophy	1/1	OMIM:615829
27245	AHDC1	HP:0030084	Clinodactyly	2/5	OMIM:615829
27245	AHDC1	HP:0000234	Abnormality of the head	1/1	OMIM:615829
27245	AHDC1	HP:0000252	Microcephaly	4/10	OMIM:615829
27245	AHDC1	HP:0000248	Brachycephaly	3/13	OMIM:615829
27245	AHDC1	HP:0000219	Thin upper lip vermilion	25/39	OMIM:615829
27245	AHDC1	HP:0000218	High palate	6/14	OMIM:615829
27245	AHDC1	HP:0000232	Everted lower lip vermilion	1/5	OMIM:615829
27245	AHDC1	HP:0000211	Trismus	1/1	OMIM:615829
27245	AHDC1	HP:0002870	Obstructive sleep apnea	HP:0040282	ORPHA:412069
27245	AHDC1	HP:0002870	Obstructive sleep apnea	8/9	OMIM:615829
27245	AHDC1	HP:0001539	Omphalocele	1/7	OMIM:615829
27245	AHDC1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:412069
27245	AHDC1	HP:0001508	Failure to thrive	9/15	OMIM:615829
27245	AHDC1	HP:0001511	Intrauterine growth retardation	1/1	OMIM:615829
27245	AHDC1	HP:0000385	Small earlobe	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0000385	Small earlobe	3/23	OMIM:615829
27245	AHDC1	HP:0000378	Cupped ear	2/11	OMIM:615829
27245	AHDC1	HP:0000396	Overfolded helix	2/13	OMIM:615829
27245	AHDC1	HP:0000389	Chronic otitis media	1/1	OMIM:615829
27245	AHDC1	HP:0005216	Impaired mastication	1/1	OMIM:615829
27245	AHDC1	HP:0007874	Almond-shaped palpebral fissure	1/9	OMIM:615829
27245	AHDC1	HP:0002938	Lumbar hyperlordosis	1/5	OMIM:615829
27245	AHDC1	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0001601	Laryngomalacia	3/5	OMIM:615829
27245	AHDC1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0000365	Hearing impairment	3/8	OMIM:615829
27245	AHDC1	HP:0000369	Low-set ears	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0000369	Low-set ears	13/41	OMIM:615829
27245	AHDC1	HP:0000341	Narrow forehead	2/16	OMIM:615829
27245	AHDC1	HP:0000343	Long philtrum	6/14	OMIM:615829
27245	AHDC1	HP:0000337	Broad forehead	21/35	OMIM:615829
27245	AHDC1	HP:0000348	High forehead	2/2	OMIM:615829
27245	AHDC1	HP:0000347	Micrognathia	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0000347	Micrognathia	12/27	OMIM:615829
27245	AHDC1	HP:0000319	Smooth philtrum	5/14	OMIM:615829
27245	AHDC1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0000316	Hypertelorism	14/35	OMIM:615829
27245	AHDC1	HP:0000331	Short chin	2/12	OMIM:615829
27245	AHDC1	HP:0000322	Short philtrum	3/17	OMIM:615829
27245	AHDC1	HP:0001653	Mitral regurgitation	1/4	OMIM:615829
27245	AHDC1	HP:0001629	Ventricular septal defect	2/12	OMIM:615829
27245	AHDC1	HP:0001631	Atrial septal defect	2/6	OMIM:615829
27245	AHDC1	HP:0006610	Wide intermamillary distance	1/4	OMIM:615829
27245	AHDC1	HP:5201016	Submucous cleft palate	1/4	OMIM:615829
27245	AHDC1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0005280	Depressed nasal bridge	14/26	OMIM:615829
27245	AHDC1	HP:0000483	Astigmatism	2/2	OMIM:615829
27245	AHDC1	HP:0000486	Strabismus	HP:0040282	ORPHA:412069
27245	AHDC1	HP:0000486	Strabismus	11/25	OMIM:615829
27245	AHDC1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0000494	Downslanted palpebral fissures	4/39	OMIM:615829
27245	AHDC1	HP:0000490	Deeply set eye	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0000490	Deeply set eye	6/29	OMIM:615829
27245	AHDC1	HP:0000463	Anteverted nares	5/13	OMIM:615829
27245	AHDC1	HP:0012448	Delayed myelination	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0000455	Broad nasal tip	2/5	OMIM:615829
27245	AHDC1	HP:0000470	Short neck	1/4	OMIM:615829
27245	AHDC1	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:412069
27245	AHDC1	HP:0001773	Short foot	4/6	OMIM:615829
27245	AHDC1	HP:0001763	Pes planus	3/11	OMIM:615829
27245	AHDC1	HP:0012418	Hypoxemia	1/1	OMIM:615829
27245	AHDC1	HP:0000411	Protruding ear	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0000411	Protruding ear	5/22	OMIM:615829
27245	AHDC1	HP:0001762	Talipes equinovarus	1/7	OMIM:615829
27245	AHDC1	HP:0000431	Wide nasal bridge	1/12	OMIM:615829
27245	AHDC1	HP:0000430	Underdeveloped nasal alae	3/7	OMIM:615829
27245	AHDC1	HP:0001761	Pes cavus	6/16	OMIM:615829
27245	AHDC1	HP:0000520	Proptosis	4/14	OMIM:615829
27245	AHDC1	HP:0000508	Ptosis	14/41	OMIM:615829
27245	AHDC1	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0000582	Upslanted palpebral fissure	14/40	OMIM:615829
27245	AHDC1	HP:0000577	Exotropia	4/12	OMIM:615829
27245	AHDC1	HP:0011228	Horizontal eyebrow	6/15	OMIM:615829
27245	AHDC1	HP:0000565	Esotropia	HP:0040283	ORPHA:412069
27245	AHDC1	HP:0000565	Esotropia	8/26	OMIM:615829
27245	AHDC1	HP:0000540	Hypermetropia	13/21	OMIM:615829
27245	AHDC1	HP:0012510	Extra-axial cerebrospinal fluid accumulation	1/7	OMIM:615829
27247	NFU1	HP:0002490	Increased CSF lactate	4/4	OMIM:605711
27247	NFU1	HP:0007209	Facial paralysis	1/1	OMIM:605711
27247	NFU1	HP:0001298	Encephalopathy	1/17	OMIM:620938
27247	NFU1	HP:0001276	Hypertonia	12/14	OMIM:620938
27247	NFU1	HP:0001288	Gait disturbance	1/1	OMIM:620938
27247	NFU1	HP:0001285	Spastic tetraparesis	1/1	OMIM:605711
27247	NFU1	HP:0001254	Lethargy	4/4	OMIM:605711
27247	NFU1	HP:0001252	Hypotonia	3/3	OMIM:620938
27247	NFU1	HP:0001263	Global developmental delay	7/11	OMIM:620938
27247	NFU1	HP:0001263	Global developmental delay	4/11	OMIM:605711
27247	NFU1	HP:0001258	Spastic paraplegia	2/2	OMIM:620938
27247	NFU1	HP:0007371	Corpus callosum atrophy	1/1	OMIM:620938
27247	NFU1	HP:0410309	Alpha-aminoadipic aciduria	10/10	OMIM:605711
27247	NFU1	HP:0007359	Focal-onset seizure	1/1	OMIM:605711
27247	NFU1	HP:0002510	Spastic tetraplegia	1/1	OMIM:620938
27247	NFU1	HP:0500230	Increased CSF glycine concentration	8/8	OMIM:605711
27247	NFU1	HP:0002505	Loss of ambulation	1/1	OMIM:620938
27247	NFU1	HP:0003811	Neonatal death	3/4	OMIM:605711
27247	NFU1	HP:0001348	Brisk reflexes	17/18	OMIM:620938
27247	NFU1	HP:0001324	Muscle weakness	3/4	OMIM:605711
27247	NFU1	HP:0000007	Autosomal recessive inheritance	-	OMIM:605711
27247	NFU1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620938
27247	NFU1	HP:0001336	Myoclonus	1/1	OMIM:605711
27247	NFU1	HP:0033748	Hypoesthesia	1/1	OMIM:620938
27247	NFU1	HP:0002650	Scoliosis	1/1	OMIM:620938
27247	NFU1	HP:0008972	Decreased activity of mitochondrial respiratory chain	3/3	OMIM:605711
27247	NFU1	HP:0008936	Axial hypotonia	1/1	OMIM:605711
27247	NFU1	HP:0002092	Pulmonary arterial hypertension	7/10	OMIM:605711
27247	NFU1	HP:0002093	Respiratory insufficiency	4/4	OMIM:605711
27247	NFU1	HP:0002066	Gait ataxia	0/16	OMIM:620938
27247	NFU1	HP:0002061	Lower limb spasticity	2/2	OMIM:620938
27247	NFU1	HP:0002079	Hypoplasia of the corpus callosum	9/17	OMIM:620938
27247	NFU1	HP:0002071	Abnormality of extrapyramidal motor function	1/1	OMIM:605711
27247	NFU1	HP:0003487	Babinski sign	2/18	OMIM:620938
27247	NFU1	HP:0002154	Hyperglycinemia	10/12	OMIM:605711
27247	NFU1	HP:0002151	Increased circulating lactate concentration	11/11	OMIM:605711
27247	NFU1	HP:0002133	Status epilepticus	1/1	OMIM:620938
27247	NFU1	HP:0002197	Generalized-onset seizure	1/1	OMIM:620938
27247	NFU1	HP:0002169	Clonus	1/1	OMIM:620938
27247	NFU1	HP:0002179	Opisthotonus	1/1	OMIM:605711
27247	NFU1	HP:0010550	Paraplegia	10/10	OMIM:620938
27247	NFU1	HP:0003593	Infantile onset	9/19	OMIM:620938
27247	NFU1	HP:0003593	Infantile onset	11/14	OMIM:605711
27247	NFU1	HP:0002280	Enlarged cisterna magna	9/17	OMIM:620938
27247	NFU1	HP:0007020	Progressive spastic paraplegia	1/1	OMIM:620938
27247	NFU1	HP:0011968	Feeding difficulties	4/4	OMIM:605711
27247	NFU1	HP:0008314	Decreased activity of mitochondrial complex II	1/1	OMIM:605711
27247	NFU1	HP:0002359	Frequent falls	2/2	OMIM:620938
27247	NFU1	HP:0002376	Developmental regression	15/21	OMIM:620938
27247	NFU1	HP:0002376	Developmental regression	4/10	OMIM:605711
27247	NFU1	HP:0002352	Leukoencephalopathy	1/1	OMIM:605711
27247	NFU1	HP:0003648	Lacticaciduria	1/1	OMIM:605711
27247	NFU1	HP:0009830	Peripheral neuropathy	2/21	OMIM:620938
27247	NFU1	HP:0003623	Neonatal onset	3/4	OMIM:605711
27247	NFU1	HP:0004911	Episodic metabolic acidosis	1/1	OMIM:605711
27247	NFU1	HP:0033418	Elevated circulating 2-hydroxybutyric acid concentration	1/1	OMIM:605711
27247	NFU1	HP:0000639	Nystagmus	1/8	OMIM:620938
27247	NFU1	HP:0000648	Optic atrophy	1/8	OMIM:620938
27247	NFU1	HP:0001945	Fever	1/1	OMIM:620938
27247	NFU1	HP:0001941	Acidosis	1/1	OMIM:620938
27247	NFU1	HP:0031936	Delayed ability to walk	8/8	OMIM:620938
27247	NFU1	HP:0012706	Elevated brain choline level by MRS	1/1	OMIM:620938
27247	NFU1	HP:0012707	Elevated brain lactate level by MRS	1/1	OMIM:620938
27247	NFU1	HP:0012708	Reduced brain N-acetyl aspartate level by MRS	1/1	OMIM:620938
27247	NFU1	HP:0011463	Childhood onset	12/21	OMIM:620938
27247	NFU1	HP:0011463	Childhood onset	1/1	OMIM:605711
27247	NFU1	HP:0011449	Knee clonus	7/17	OMIM:620938
27247	NFU1	HP:0011448	Ankle clonus	5/17	OMIM:620938
27247	NFU1	HP:0003108	Hyperglycinuria	8/8	OMIM:605711
27247	NFU1	HP:0034295	Reduced cerebral white matter volume	8/16	OMIM:620938
27247	NFU1	HP:0003128	Lactic acidosis	2/20	OMIM:620938
27247	NFU1	HP:0003128	Lactic acidosis	4/4	OMIM:605711
27247	NFU1	HP:0033044	Motor regression	1/1	OMIM:605711
27247	NFU1	HP:0002878	Respiratory failure	1/1	OMIM:620938
27247	NFU1	HP:0002878	Respiratory failure	4/4	OMIM:605711
27247	NFU1	HP:0001522	Death in infancy	1/4	OMIM:605711
27247	NFU1	HP:0001508	Failure to thrive	17/21	OMIM:605711
27247	NFU1	HP:0011096	Peripheral demyelination	1/17	OMIM:620938
27247	NFU1	HP:0000486	Strabismus	2/8	OMIM:620938
27247	NFU1	HP:0012402	Increased urine alpha-ketoglutarate concentration	1/1	OMIM:605711
27247	NFU1	HP:0001762	Talipes equinovarus	2/21	OMIM:620938
27247	NFU1	HP:0000508	Ptosis	1/7	OMIM:620938
27247	NFU1	HP:0000544	External ophthalmoplegia	1/8	OMIM:620938
27249	MMADHC	HP:0002497	Spastic ataxia	-	OMIM:277410
27249	MMADHC	HP:0001290	Generalized hypotonia	-	OMIM:277410
27249	MMADHC	HP:0001288	Gait disturbance	HP:0040281	ORPHA:79283
27249	MMADHC	HP:0001254	Lethargy	-	OMIM:277410
27249	MMADHC	HP:0001254	Lethargy	HP:0040281	ORPHA:79283
27249	MMADHC	HP:0001250	Seizure	-	OMIM:277410
27249	MMADHC	HP:0001250	Seizure	HP:0040281	ORPHA:79283
27249	MMADHC	HP:0001252	Hypotonia	-	OMIM:277410
27249	MMADHC	HP:0001249	Intellectual disability	-	OMIM:277410
27249	MMADHC	HP:0001249	Intellectual disability	HP:0040281	ORPHA:79283
27249	MMADHC	HP:0001263	Global developmental delay	-	OMIM:277410
27249	MMADHC	HP:0001263	Global developmental delay	HP:0040281	ORPHA:79283
27249	MMADHC	HP:0001332	Dystonia	-	OMIM:277410
27249	MMADHC	HP:0000007	Autosomal recessive inheritance	-	OMIM:277410
27249	MMADHC	HP:0012120	Methylmalonic aciduria	-	OMIM:277410
27249	MMADHC	HP:0002039	Anorexia	HP:0040281	ORPHA:79283
27249	MMADHC	HP:0002156	Homocystinuria	-	OMIM:277410
27249	MMADHC	HP:0002120	Cerebral cortical atrophy	-	OMIM:277410
27249	MMADHC	HP:0002160	Hyperhomocystinemia	-	OMIM:277410
27249	MMADHC	HP:0003593	Infantile onset	-	OMIM:277410
27249	MMADHC	HP:0003524	Decreased methionine synthase activity	-	OMIM:277410
27249	MMADHC	HP:0003658	Hypomethioninemia	-	OMIM:277410
27249	MMADHC	HP:0005518	Increased mean corpuscular volume	-	OMIM:277410
27249	MMADHC	HP:0000639	Nystagmus	-	OMIM:277410
27249	MMADHC	HP:0001980	Megaloblastic bone marrow	HP:0040281	ORPHA:79283
27249	MMADHC	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:79283
27249	MMADHC	HP:0000708	Atypical behavior	HP:0040281	ORPHA:79283
27249	MMADHC	HP:0003145	Decreased circulating adenosylcobalamin concentration	-	OMIM:277410
27249	MMADHC	HP:0003210	Decreased methylmalonyl-CoA mutase activity	-	OMIM:277410
27249	MMADHC	HP:0003223	Decreased circulating methylcobalamin concentration	-	OMIM:277410
27249	MMADHC	HP:0000980	Pallor	HP:0040281	ORPHA:79283
27249	MMADHC	HP:0001508	Failure to thrive	HP:0040281	ORPHA:79283
27249	MMADHC	HP:0012378	Fatigue	HP:0040281	ORPHA:79283
27249	MMADHC	HP:0002912	Methylmalonic acidemia	-	OMIM:277410
27249	MMADHC	HP:0001889	Megaloblastic anemia	-	OMIM:277410
27286	SRPX2	HP:0002463	Language impairment	HP:0040282	ORPHA:98889
27286	SRPX2	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0007270	Atypical absence seizure	HP:0040284	ORPHA:1945
27286	SRPX2	HP:0001256	Intellectual disability, mild	-	OMIM:300643
27286	SRPX2	HP:0001250	Seizure	HP:0040281	ORPHA:163721
27286	SRPX2	HP:0001250	Seizure	-	OMIM:300643
27286	SRPX2	HP:0001250	Seizure	HP:0040282	ORPHA:98889
27286	SRPX2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:163721
27286	SRPX2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:98889
27286	SRPX2	HP:0001260	Dysarthria	HP:0040283	ORPHA:163721
27286	SRPX2	HP:0001260	Dysarthria	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:98889
27286	SRPX2	HP:0001257	Spasticity	HP:0040282	ORPHA:98889
27286	SRPX2	HP:0007359	Focal-onset seizure	-	OMIM:300643
27286	SRPX2	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:163721
27286	SRPX2	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:98889
27286	SRPX2	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:1945
27286	SRPX2	HP:0007332	Focal hemifacial clonic seizure	HP:0040282	ORPHA:1945
27286	SRPX2	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:163721
27286	SRPX2	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:1945
27286	SRPX2	HP:0002546	Incomprehensible speech	HP:0040283	ORPHA:163721
27286	SRPX2	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0002509	Limb hypertonia	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0001371	Flexion contracture	HP:0040282	ORPHA:98889
27286	SRPX2	HP:0012015	EEG with frontal focal spikes	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0012017	EEG with parietal focal spikes	HP:0040282	ORPHA:98889
27286	SRPX2	HP:0012014	EEG with central focal spikes	HP:0040282	ORPHA:98889
27286	SRPX2	HP:0001349	Facial diplegia	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:98889
27286	SRPX2	HP:0410011	Abnormality of masticatory muscle	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0001328	Specific learning disability	HP:0040283	ORPHA:163721
27286	SRPX2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:98889
27286	SRPX2	HP:0001328	Specific learning disability	HP:0040283	ORPHA:1945
27286	SRPX2	HP:0001326	EEG with irregular generalized spike and wave complexes	HP:0040284	ORPHA:1945
27286	SRPX2	HP:0032407	Bilateral perisylvian polymicrogyria	HP:0040281	ORPHA:98889
27286	SRPX2	HP:0032407	Bilateral perisylvian polymicrogyria	-	OMIM:300643
27286	SRPX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:300643
27286	SRPX2	HP:0001310	Dysmetria	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0025425	Laryngospasm	HP:0040282	ORPHA:1945
27286	SRPX2	HP:0008947	Floppy infant	HP:0040282	ORPHA:98889
27286	SRPX2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0002015	Dysphagia	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:163721
27286	SRPX2	HP:0002076	Migraine	HP:0040283	ORPHA:1945
27286	SRPX2	HP:0011755	Ectopic posterior pituitary	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0002104	Apnea	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0010535	Sleep apnea	HP:0040282	ORPHA:1945
27286	SRPX2	HP:0003401	Paresthesia	HP:0040283	ORPHA:1945
27286	SRPX2	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:98889
27286	SRPX2	HP:0007033	Cerebellar dysplasia	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0007024	Pseudobulbar paralysis	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:1945
27286	SRPX2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0002385	Paraparesis	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0002392	EEG with polyspike wave complexes	HP:0040282	ORPHA:98889
27286	SRPX2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1945
27286	SRPX2	HP:0010808	Protruding tongue	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0002307	Drooling	HP:0040282	ORPHA:163721
27286	SRPX2	HP:0002307	Drooling	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0002307	Drooling	HP:0040282	ORPHA:1945
27286	SRPX2	HP:0020190	Perisylvian predominant thick cortex pachygyria	HP:0040282	ORPHA:98889
27286	SRPX2	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:1945
27286	SRPX2	HP:0006889	Intellectual disability, borderline	HP:0040283	ORPHA:1945
27286	SRPX2	HP:0000639	Nystagmus	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0005684	Distal arthrogryposis	HP:0040282	ORPHA:98889
27286	SRPX2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0000739	Anxiety	HP:0040283	ORPHA:1945
27286	SRPX2	HP:0000736	Short attention span	HP:0040283	ORPHA:163721
27286	SRPX2	HP:0000736	Short attention span	HP:0040283	ORPHA:1945
27286	SRPX2	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:163721
27286	SRPX2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:98889
27286	SRPX2	HP:0000716	Depression	HP:0040283	ORPHA:1945
27286	SRPX2	HP:0000712	Emotional lability	HP:0040283	ORPHA:1945
27286	SRPX2	HP:0010300	Abnormally low-pitched voice	HP:0040283	ORPHA:163721
27286	SRPX2	HP:0000252	Microcephaly	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0002835	Aspiration	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0011098	Speech apraxia	HP:0040281	ORPHA:163721
27286	SRPX2	HP:0011098	Speech apraxia	-	OMIM:300643
27286	SRPX2	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:163721
27286	SRPX2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0031434	Abnormal prosody	HP:0040283	ORPHA:163721
27286	SRPX2	HP:0000347	Micrognathia	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0031491	Continuous spike and waves during slow sleep	HP:0040282	ORPHA:163721
27286	SRPX2	HP:0011196	EEG with focal sharp waves	HP:0040282	ORPHA:163721
27286	SRPX2	HP:0011198	EEG with generalized epileptiform discharges	HP:0040282	ORPHA:163721
27286	SRPX2	HP:0011157	Focal sensory seizure	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:98889
27286	SRPX2	HP:0012469	Infantile spasms	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0000453	Choanal atresia	HP:0040283	ORPHA:98889
27286	SRPX2	HP:0012557	EEG with centrotemporal focal spike waves	HP:0040281	ORPHA:1945
27286	SRPX2	HP:0012534	Dysesthesia	HP:0040283	ORPHA:1945
27315	PGAP2	HP:0001195	Single umbilical artery	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0010864	Intellectual disability, severe	3/3	OMIM:614207
27315	PGAP2	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0001270	Motor delay	3/3	OMIM:614207
27315	PGAP2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0001256	Intellectual disability, mild	1/2	OMIM:614207
27315	PGAP2	HP:0001250	Seizure	2/2	OMIM:614207
27315	PGAP2	HP:0001250	Seizure	HP:0040281	ORPHA:247262
27315	PGAP2	HP:0001252	Hypotonia	4/5	OMIM:614207
27315	PGAP2	HP:0001251	Ataxia	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:247262
27315	PGAP2	HP:0001263	Global developmental delay	-	OMIM:614207
27315	PGAP2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:247262
27315	PGAP2	HP:0002558	Supernumerary nipple	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0006118	Shortening of all distal phalanges of the fingers	HP:0040281	ORPHA:247262
27315	PGAP2	HP:0006118	Shortening of all distal phalanges of the fingers	2/2	OMIM:614207
27315	PGAP2	HP:0002540	Inability to walk	1/2	OMIM:614207
27315	PGAP2	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0002696	Abnormal parietal bone morphology	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0001324	Muscle weakness	2/3	OMIM:614207
27315	PGAP2	HP:0001344	Absent speech	1/2	OMIM:614207
27315	PGAP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614207
27315	PGAP2	HP:0001336	Myoclonus	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0001305	Dandy-Walker malformation	1/3	OMIM:614207
27315	PGAP2	HP:0002650	Scoliosis	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0002650	Scoliosis	1/2	OMIM:614207
27315	PGAP2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000193	Bifid uvula	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000175	Cleft palate	1/2	OMIM:614207
27315	PGAP2	HP:0000154	Wide mouth	1/2	OMIM:614207
27315	PGAP2	HP:0008947	Floppy infant	HP:0040281	ORPHA:247262
27315	PGAP2	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:247262
27315	PGAP2	HP:0002025	Anal stenosis	1/2	OMIM:614207
27315	PGAP2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:247262
27315	PGAP2	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:614207
27315	PGAP2	HP:0002079	Hypoplasia of the corpus callosum	1/2	OMIM:614207
27315	PGAP2	HP:0002121	Generalized non-motor (absence) seizure	1/3	OMIM:614207
27315	PGAP2	HP:0003593	Infantile onset	1/2	OMIM:614207
27315	PGAP2	HP:0003577	Congenital onset	1/2	OMIM:614207
27315	PGAP2	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0002251	Aganglionic megacolon	1/2	OMIM:614207
27315	PGAP2	HP:0008398	Hypoplastic fifth fingernail	1/2	OMIM:614207
27315	PGAP2	HP:0002392	EEG with polyspike wave complexes	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/2	OMIM:614207
27315	PGAP2	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0001009	Telangiectasia	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:247262
27315	PGAP2	HP:0010804	Tented upper lip vermilion	2/2	OMIM:614207
27315	PGAP2	HP:0006829	Severe muscular hypotonia	1/3	OMIM:614207
27315	PGAP2	HP:0006808	Cerebral hypomyelination	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:247262
27315	PGAP2	HP:0000637	Long palpebral fissure	1/2	OMIM:614207
27315	PGAP2	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:247262
27315	PGAP2	HP:0004322	Short stature	1/3	OMIM:614207
27315	PGAP2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000750	Delayed speech and language development	1/2	OMIM:614207
27315	PGAP2	HP:0000729	Autistic behavior	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0003196	Short nose	1/2	OMIM:614207
27315	PGAP2	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040281	ORPHA:247262
27315	PGAP2	HP:0003155	Elevated circulating alkaline phosphatase concentration	2/2	OMIM:614207
27315	PGAP2	HP:0040194	Increased head circumference	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0040195	Decreased head circumference	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000286	Epicanthus	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000280	Coarse facial features	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000289	Broad philtrum	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0030084	Clinodactyly	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000252	Microcephaly	1/3	OMIM:614207
27315	PGAP2	HP:0000248	Brachycephaly	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000218	High palate	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0001558	Decreased fetal movement	1/3	OMIM:614207
27315	PGAP2	HP:0001510	Growth delay	HP:0040282	ORPHA:247262
27315	PGAP2	HP:0000378	Cupped ear	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000391	Thickened helices	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000347	Micrognathia	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0032794	Myoclonic seizure	1/2	OMIM:614207
27315	PGAP2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:247262
27315	PGAP2	HP:0000316	Hypertelorism	1/2	OMIM:614207
27315	PGAP2	HP:0000311	Round face	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000322	Short philtrum	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0001631	Atrial septal defect	1/2	OMIM:614207
27315	PGAP2	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:614207
27315	PGAP2	HP:0000486	Strabismus	2/3	OMIM:614207
27315	PGAP2	HP:0001792	Small nail	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0012444	Brain atrophy	1/3	OMIM:614207
27315	PGAP2	HP:0000455	Broad nasal tip	1/2	OMIM:614207
27315	PGAP2	HP:0000470	Short neck	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000414	Bulbous nose	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:247262
27315	PGAP2	HP:0000431	Wide nasal bridge	2/2	OMIM:614207
27315	PGAP2	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000594	Shallow anterior chamber	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000565	Esotropia	HP:0040283	ORPHA:247262
27315	PGAP2	HP:0000540	Hypermetropia	HP:0040283	ORPHA:247262
27316	RBMX	HP:0001141	Severely reduced visual acuity	-	OMIM:309555
27316	RBMX	HP:0008619	Bilateral sensorineural hearing impairment	4/7	OMIM:300238
27316	RBMX	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:3078
27316	RBMX	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:3078
27316	RBMX	HP:0001276	Hypertonia	HP:0040281	ORPHA:3078
27316	RBMX	HP:0001250	Seizure	-	OMIM:309555
27316	RBMX	HP:0001250	Seizure	HP:0040283	ORPHA:85286
27316	RBMX	HP:0001250	Seizure	HP:0040281	ORPHA:3078
27316	RBMX	HP:0001249	Intellectual disability	-	OMIM:309555
27316	RBMX	HP:0001257	Spasticity	-	OMIM:309555
27316	RBMX	HP:0001257	Spasticity	HP:0040282	ORPHA:3078
27316	RBMX	HP:0003819	Death in childhood	-	OMIM:309555
27316	RBMX	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:3078
27316	RBMX	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:3078
27316	RBMX	HP:0000053	Macroorchidism	7/7	OMIM:300238
27316	RBMX	HP:0000053	Macroorchidism	HP:0040281	ORPHA:85286
27316	RBMX	HP:0008850	Severe postnatal growth retardation	HP:0040281	ORPHA:3078
27316	RBMX	HP:0001336	Myoclonus	HP:0040283	ORPHA:3078
27316	RBMX	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:3078
27316	RBMX	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:3078
27316	RBMX	HP:0000179	Thick lower lip vermilion	7/7	OMIM:300238
27316	RBMX	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:3078
27316	RBMX	HP:0001419	X-linked recessive inheritance	-	OMIM:300238
27316	RBMX	HP:0001417	X-linked inheritance	-	OMIM:309555
27316	RBMX	HP:0005949	Apneic episodes in infancy	HP:0040282	ORPHA:3078
27316	RBMX	HP:0100540	Palpebral edema	HP:0040281	ORPHA:85286
27316	RBMX	HP:0008110	Equinovarus deformity	HP:0040283	ORPHA:3078
27316	RBMX	HP:0040288	Nasogastric tube feeding	HP:0040282	ORPHA:3078
27316	RBMX	HP:0002198	Dilated fourth ventricle	HP:0040282	ORPHA:3078
27316	RBMX	HP:0002342	Intellectual disability, moderate	7/7	OMIM:300238
27316	RBMX	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:85286
27316	RBMX	HP:0006829	Severe muscular hypotonia	HP:0040283	ORPHA:3078
27316	RBMX	HP:0000648	Optic atrophy	-	OMIM:309555
27316	RBMX	HP:0000648	Optic atrophy	HP:0040281	ORPHA:3078
27316	RBMX	HP:0000618	Blindness	-	OMIM:309555
27316	RBMX	HP:0000618	Blindness	HP:0040282	ORPHA:3078
27316	RBMX	HP:0000629	Periorbital fullness	7/7	OMIM:300238
27316	RBMX	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:3078
27316	RBMX	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:85286
27316	RBMX	HP:0012715	Profound hearing impairment	HP:0040281	ORPHA:3078
27316	RBMX	HP:0005781	Contractures of the large joints	HP:0040283	ORPHA:3078
27316	RBMX	HP:0003196	Short nose	HP:0040283	ORPHA:3078
27316	RBMX	HP:0045025	Narrow palpebral fissure	7/7	OMIM:300238
27316	RBMX	HP:0000280	Coarse facial features	7/7	OMIM:300238
27316	RBMX	HP:0000280	Coarse facial features	HP:0040281	ORPHA:85286
27316	RBMX	HP:0000239	Large fontanelles	HP:0040283	ORPHA:3078
27316	RBMX	HP:0000252	Microcephaly	-	OMIM:309555
27316	RBMX	HP:0000252	Microcephaly	HP:0040281	ORPHA:3078
27316	RBMX	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:85286
27316	RBMX	HP:0001518	Small for gestational age	HP:0040282	ORPHA:3078
27316	RBMX	HP:0001513	Obesity	7/7	OMIM:300238
27316	RBMX	HP:0001513	Obesity	HP:0040281	ORPHA:85286
27316	RBMX	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:3078
27316	RBMX	HP:0005193	Restricted large joint movement	-	OMIM:309555
27316	RBMX	HP:0000365	Hearing impairment	20/20	OMIM:309555
27316	RBMX	HP:0000336	Prominent supraorbital ridges	7/7	OMIM:300238
27316	RBMX	HP:0000336	Prominent supraorbital ridges	HP:0040281	ORPHA:85286
27316	RBMX	HP:0000347	Micrognathia	HP:0040283	ORPHA:3078
27316	RBMX	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:3078
27316	RBMX	HP:0000400	Macrotia	7/7	OMIM:300238
27316	RBMX	HP:0000400	Macrotia	HP:0040283	ORPHA:3078
27316	RBMX	HP:0000400	Macrotia	HP:0040281	ORPHA:85286
27316	RBMX	HP:0012444	Brain atrophy	HP:0040282	ORPHA:3078
27316	RBMX	HP:0000414	Bulbous nose	7/7	OMIM:300238
27316	RBMX	HP:0000414	Bulbous nose	HP:0040281	ORPHA:85286
27316	RBMX	HP:0005486	Small fontanelle	HP:0040282	ORPHA:3078
27316	RBMX	HP:0001848	Calcaneovalgus deformity	HP:0040283	ORPHA:3078
27316	RBMX	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:3078
27316	RBMX	HP:0000581	Blepharophimosis	7/7	OMIM:300238
27316	RBMX	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:85286
27327	TNRC6A	HP:0000006	Autosomal dominant inheritance	-	OMIM:618074
27327	TNRC6A	HP:0003581	Adult onset	-	OMIM:618074
27327	TNRC6A	HP:0033054	Myoclonic tremor	-	OMIM:618074
27329	ANGPTL3	HP:0000007	Autosomal recessive inheritance	-	OMIM:605019
27329	ANGPTL3	HP:0012153	Hypotriglyceridemia	-	OMIM:605019
27329	ANGPTL3	HP:0003563	Decreased LDL cholesterol concentration	-	OMIM:605019
27341	RRP7A	HP:0001249	Intellectual disability	8/8	OMIM:619453
27341	RRP7A	HP:0000007	Autosomal recessive inheritance	-	OMIM:619453
27341	RRP7A	HP:0003577	Congenital onset	8/8	OMIM:619453
27341	RRP7A	HP:0000750	Delayed speech and language development	4/8	OMIM:619453
27341	RRP7A	HP:0000252	Microcephaly	8/8	OMIM:619453
27341	RRP7A	HP:0000340	Sloping forehead	1/1	OMIM:619453
27343	POLL	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
27343	POLL	HP:0001293	Cranial nerve compression	-	OMIM:131300
27343	POLL	HP:0001252	Hypotonia	2/7	OMIM:615777
27343	POLL	HP:0001249	Intellectual disability	5/7	OMIM:615777
27343	POLL	HP:0001263	Global developmental delay	-	OMIM:615777
27343	POLL	HP:0002515	Waddling gait	54/102	OMIM:131300
27343	POLL	HP:0001382	Joint hypermobility	-	OMIM:615777
27343	POLL	HP:0002694	Sclerosis of skull base	-	OMIM:131300
27343	POLL	HP:0008897	Postnatal growth retardation	-	OMIM:615777
27343	POLL	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
27343	POLL	HP:0001324	Muscle weakness	40/96	OMIM:131300
27343	POLL	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
27343	POLL	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
27343	POLL	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
27343	POLL	HP:0002650	Scoliosis	12/14	OMIM:131300
27343	POLL	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
27343	POLL	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
27343	POLL	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
27343	POLL	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
27343	POLL	HP:0000175	Cleft palate	2/7	OMIM:615777
27343	POLL	HP:0003388	Easy fatigability	36/76	OMIM:131300
27343	POLL	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
27343	POLL	HP:0003510	Severe short stature	7/7	OMIM:615777
27343	POLL	HP:0002315	Headache	-	OMIM:131300
27343	POLL	HP:0004976	Knee dislocation	6/7	OMIM:615777
27343	POLL	HP:0009803	Short phalanx of finger	-	OMIM:615777
27343	POLL	HP:0009763	Limb pain	63/92	OMIM:131300
27343	POLL	HP:0003621	Juvenile onset	-	OMIM:131300
27343	POLL	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
27343	POLL	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
27343	POLL	HP:6001056	Out-toeing	-	OMIM:131300
27343	POLL	HP:0000651	Diplopia	-	OMIM:131300
27343	POLL	HP:0001956	Truncal obesity	2/7	OMIM:615777
27343	POLL	HP:0001903	Anemia	HP:0040283	OMIM:131300
27343	POLL	HP:0010049	Short metacarpal	-	OMIM:615777
27343	POLL	HP:0000678	Dental crowding	-	OMIM:615777
27343	POLL	HP:0000670	Carious teeth	-	OMIM:131300
27343	POLL	HP:0011304	Broad thumb	2/7	OMIM:615777
27343	POLL	HP:0000668	Hypodontia	-	OMIM:615777
27343	POLL	HP:0000664	Synophrys	-	OMIM:615777
27343	POLL	HP:0004396	Poor appetite	-	OMIM:131300
27343	POLL	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
27343	POLL	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
27343	POLL	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
27343	POLL	HP:0003026	Short long bone	7/7	OMIM:615777
27343	POLL	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
27343	POLL	HP:0000767	Pectus excavatum	2/7	OMIM:615777
27343	POLL	HP:0000768	Pectus carinatum	1/7	OMIM:615777
27343	POLL	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
27343	POLL	HP:0000750	Delayed speech and language development	-	OMIM:615777
27343	POLL	HP:0011461	Fetal onset	7/7	OMIM:615777
27343	POLL	HP:0000774	Narrow chest	2/7	OMIM:615777
27343	POLL	HP:0000926	Platyspondyly	1/7	OMIM:615777
27343	POLL	HP:0003180	Flat acetabular roof	-	OMIM:615777
27343	POLL	HP:0004482	Relative macrocephaly	-	OMIM:615777
27343	POLL	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
27343	POLL	HP:0000823	Delayed puberty	-	OMIM:131300
27343	POLL	HP:0000894	Short clavicles	-	OMIM:615777
27343	POLL	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
27343	POLL	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
27343	POLL	HP:0000286	Epicanthus	1/7	OMIM:615777
27343	POLL	HP:0000280	Coarse facial features	2/7	OMIM:615777
27343	POLL	HP:0002827	Hip dislocation	3/7	OMIM:615777
27343	POLL	HP:0000252	Microcephaly	-	OMIM:615777
27343	POLL	HP:0002857	Genu valgum	-	OMIM:131300
27343	POLL	HP:0001533	Slender build	-	OMIM:131300
27343	POLL	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
27343	POLL	HP:0007807	Optic nerve compression	-	OMIM:131300
27343	POLL	HP:0012368	Flat face	7/7	OMIM:615777
27343	POLL	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
27343	POLL	HP:0000365	Hearing impairment	10/67	OMIM:131300
27343	POLL	HP:0000343	Long philtrum	1/7	OMIM:615777
27343	POLL	HP:0011001	Increased bone mineral density	-	OMIM:131300
27343	POLL	HP:0000311	Round face	2/7	OMIM:615777
27343	POLL	HP:0002970	Genu varum	-	OMIM:615777
27343	POLL	HP:0000303	Mandibular prognathia	-	OMIM:131300
27343	POLL	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
27343	POLL	HP:0000470	Short neck	1/7	OMIM:615777
27343	POLL	HP:0001769	Broad foot	HP:0040283	OMIM:615777
27343	POLL	HP:0001763	Pes planus	1/7	OMIM:615777
27343	POLL	HP:0001840	Metatarsus adductus	-	OMIM:615777
27343	POLL	HP:0000520	Proptosis	2/4	OMIM:131300
27343	POLL	HP:0000520	Proptosis	7/7	OMIM:615777
27343	POLL	HP:0000592	Blue sclerae	2/7	OMIM:615777
27343	POLL	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
27343	POLL	HP:0012514	Lower limb pain	4/4	OMIM:131300
27349	MCAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:620583
27349	MCAT	HP:0007663	Reduced visual acuity	1/1	OMIM:620583
27349	MCAT	HP:0007641	Dyschromatopsia	1/1	OMIM:620583
27349	MCAT	HP:0002315	Headache	1/1	OMIM:620583
27349	MCAT	HP:0003621	Juvenile onset	2/2	OMIM:620583
27349	MCAT	HP:0000639	Nystagmus	2/2	OMIM:620583
27349	MCAT	HP:0000648	Optic atrophy	3/3	OMIM:620583
27349	MCAT	HP:0000613	Photophobia	1/1	OMIM:620583
27349	MCAT	HP:0000603	Central scotoma	1/1	OMIM:620583
27349	MCAT	HP:0011462	Young adult onset	1/1	OMIM:620583
27349	MCAT	HP:0000543	Optic disc pallor	2/2	OMIM:620583
27429	HTRA2	HP:0002490	Increased CSF lactate	-	OMIM:617248
27429	HTRA2	HP:0025269	Panic attack	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0001290	Generalized hypotonia	-	OMIM:617248
27429	HTRA2	HP:0001276	Hypertonia	-	OMIM:617248
27429	HTRA2	HP:0001250	Seizure	2/5	OMIM:617248
27429	HTRA2	HP:0001252	Hypotonia	1/5	OMIM:617248
27429	HTRA2	HP:0002578	Gastroparesis	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0001257	Spasticity	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	-	OMIM:610297
27429	HTRA2	HP:0003811	Neonatal death	1/5	OMIM:617248
27429	HTRA2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0001332	Dystonia	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0001332	Dystonia	-	OMIM:617248
27429	HTRA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617248
27429	HTRA2	HP:0001337	Tremor	HP:0040282	ORPHA:2828
27429	HTRA2	HP:0001337	Tremor	1/5	OMIM:617248
27429	HTRA2	HP:0001337	Tremor	-	OMIM:610297
27429	HTRA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:610297
27429	HTRA2	HP:0002018	Nausea	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0002019	Constipation	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0002033	Poor suck	-	OMIM:617248
27429	HTRA2	HP:0040307	Male sexual dysfunction	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0002014	Diarrhea	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0002015	Dysphagia	1/5	OMIM:617248
27429	HTRA2	HP:0003344	3-Methylglutaric aciduria	5/5	OMIM:617248
27429	HTRA2	HP:0005943	Respiratory arrest	1/5	OMIM:617248
27429	HTRA2	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0002067	Bradykinesia	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0002067	Bradykinesia	-	OMIM:610297
27429	HTRA2	HP:0003394	Muscle spasm	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0002063	Rigidity	HP:0040281	ORPHA:2828
27429	HTRA2	HP:0002063	Rigidity	-	OMIM:610297
27429	HTRA2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:617248
27429	HTRA2	HP:0002059	Cerebral atrophy	-	OMIM:617248
27429	HTRA2	HP:0002141	Gait imbalance	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0002151	Increased circulating lactate concentration	-	OMIM:617248
27429	HTRA2	HP:0002119	Ventriculomegaly	-	OMIM:617248
27429	HTRA2	HP:0002104	Apnea	-	OMIM:617248
27429	HTRA2	HP:0002169	Clonus	1/5	OMIM:617248
27429	HTRA2	HP:0002172	Postural instability	HP:0040282	ORPHA:2828
27429	HTRA2	HP:0100710	Impulsivity	HP:0040284	ORPHA:2828
27429	HTRA2	HP:0003535	3-Methylglutaconic aciduria	5/5	OMIM:617248
27429	HTRA2	HP:0100785	Insomnia	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0011968	Feeding difficulties	5/5	OMIM:617248
27429	HTRA2	HP:0100660	Dyskinesia	HP:0040282	ORPHA:2828
27429	HTRA2	HP:0003623	Neonatal onset	5/5	OMIM:617248
27429	HTRA2	HP:0000651	Diplopia	HP:0040284	ORPHA:2828
27429	HTRA2	HP:0001998	Neonatal hypoglycemia	1/5	OMIM:617248
27429	HTRA2	HP:0000738	Hallucinations	HP:0040282	ORPHA:2828
27429	HTRA2	HP:0000739	Anxiety	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0000736	Short attention span	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0000741	Apathy	HP:0040282	ORPHA:2828
27429	HTRA2	HP:0012707	Elevated brain lactate level by MRS	1/1	OMIM:617248
27429	HTRA2	HP:0000716	Depression	HP:0040282	ORPHA:2828
27429	HTRA2	HP:0000713	Agitation	HP:0040284	ORPHA:2828
27429	HTRA2	HP:0000727	Frontal lobe dementia	HP:0040284	ORPHA:2828
27429	HTRA2	HP:0000726	Dementia	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0004409	Hyposmia	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0040213	Hypopnea	1/5	OMIM:617248
27429	HTRA2	HP:0000952	Jaundice	1/5	OMIM:617248
27429	HTRA2	HP:0002878	Respiratory failure	4/5	OMIM:617248
27429	HTRA2	HP:0030014	Female sexual dysfunction	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0001522	Death in infancy	4/5	OMIM:617248
27429	HTRA2	HP:0001508	Failure to thrive	5/5	OMIM:617248
27429	HTRA2	HP:0001510	Growth delay	-	OMIM:617248
27429	HTRA2	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0001643	Patent ductus arteriosus	1/5	OMIM:617248
27429	HTRA2	HP:0001662	Bradycardia	1/5	OMIM:617248
27429	HTRA2	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:617248
27429	HTRA2	HP:0012452	Restless legs	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0005484	Secondary microcephaly	-	OMIM:617248
27429	HTRA2	HP:0000518	Cataract	1/5	OMIM:617248
27429	HTRA2	HP:0000551	Color vision defect	HP:0040283	ORPHA:2828
27429	HTRA2	HP:0001875	Decreased total neutrophil count	-	OMIM:617248
27445	PCLO	HP:0002421	Poor head control	-	OMIM:608027
27445	PCLO	HP:0001272	Cerebellar atrophy	1/1	OMIM:608027
27445	PCLO	HP:0001250	Seizure	4/4	OMIM:608027
27445	PCLO	HP:0001263	Global developmental delay	4/4	OMIM:608027
27445	PCLO	HP:0001257	Spasticity	-	OMIM:608027
27445	PCLO	HP:0007366	Atrophy/Degeneration affecting the brainstem	1/1	OMIM:608027
27445	PCLO	HP:0001347	Hyperreflexia	4/4	OMIM:608027
27445	PCLO	HP:0000007	Autosomal recessive inheritance	-	OMIM:608027
27445	PCLO	HP:0001321	Cerebellar hypoplasia	-	OMIM:608027
27445	PCLO	HP:0001319	Neonatal hypotonia	-	OMIM:608027
27445	PCLO	HP:0008936	Axial hypotonia	4/4	OMIM:608027
27445	PCLO	HP:0002705	High, narrow palate	-	OMIM:608027
27445	PCLO	HP:0012110	Hypoplasia of the pons	11/11	OMIM:608027
27445	PCLO	HP:0002714	Downturned corners of mouth	-	OMIM:608027
27445	PCLO	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:608027
27445	PCLO	HP:0002059	Cerebral atrophy	1/1	OMIM:608027
27445	PCLO	HP:0003593	Infantile onset	4/4	OMIM:608027
27445	PCLO	HP:0003577	Congenital onset	-	OMIM:608027
27445	PCLO	HP:0002365	Hypoplasia of the brainstem	-	OMIM:608027
27445	PCLO	HP:0003676	Progressive	-	OMIM:608027
27445	PCLO	HP:0000637	Long palpebral fissure	-	OMIM:608027
27445	PCLO	HP:0000648	Optic atrophy	1/4	OMIM:608027
27445	PCLO	HP:0004325	Decreased body weight	-	OMIM:608027
27445	PCLO	HP:0004322	Short stature	-	OMIM:608027
27445	PCLO	HP:0034295	Reduced cerebral white matter volume	1/1	OMIM:608027
27445	PCLO	HP:0000293	Full cheeks	-	OMIM:608027
27445	PCLO	HP:0000253	Progressive microcephaly	-	OMIM:608027
27445	PCLO	HP:0000248	Brachycephaly	-	OMIM:608027
27445	PCLO	HP:0000218	High palate	-	OMIM:608027
27445	PCLO	HP:0000365	Hearing impairment	-	OMIM:608027
27445	PCLO	HP:0000369	Low-set ears	-	OMIM:608027
27445	PCLO	HP:0000343	Long philtrum	-	OMIM:608027
27445	PCLO	HP:0000400	Macrotia	-	OMIM:608027
27445	PCLO	HP:0005280	Depressed nasal bridge	-	OMIM:608027
27445	PCLO	HP:0000520	Proptosis	-	OMIM:608027
27445	PCLO	HP:0000543	Optic disc pallor	1/4	OMIM:608027
28234	SLCO1B3	HP:0010984	Digenic inheritance	-	OMIM:237450
28234	SLCO1B3	HP:0031137	Storage in hepatocytes	-	ORPHA:3111
28234	SLCO1B3	HP:0010473	Porphyrinuria	HP:0040282	ORPHA:3111
28234	SLCO1B3	HP:0001046	Intermittent jaundice	HP:0040283	ORPHA:3111
28234	SLCO1B3	HP:0001000	Abnormality of skin pigmentation	-	OMIM:237450
28234	SLCO1B3	HP:0032106	Conjunctival icterus	HP:0040283	ORPHA:3111
28234	SLCO1B3	HP:0031811	Bilirubinuria	HP:0040282	ORPHA:3111
28234	SLCO1B3	HP:0000924	Abnormality of the skeletal system	-	OMIM:237450
28234	SLCO1B3	HP:0000989	Pruritus	-	ORPHA:3111
28234	SLCO1B3	HP:0000952	Jaundice	-	OMIM:237450
28234	SLCO1B3	HP:0000952	Jaundice	HP:0040281	ORPHA:3111
28234	SLCO1B3	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:3111
28234	SLCO1B3	HP:0002908	Conjugated hyperbilirubinemia	-	OMIM:237450
28234	SLCO1B3	HP:0002908	Conjugated hyperbilirubinemia	HP:0040281	ORPHA:3111
28234	SLCO1B3	HP:0002904	Hyperbilirubinemia	HP:0040282	ORPHA:3111
28514	DLL1	HP:0002465	Poor speech	HP:0040283	ORPHA:93926
28514	DLL1	HP:0002465	Poor speech	HP:0040282	ORPHA:93924
28514	DLL1	HP:0002465	Poor speech	HP:0040283	ORPHA:93925
28514	DLL1	HP:0002465	Poor speech	HP:0040283	ORPHA:220386
28514	DLL1	HP:0002474	Expressive language delay	HP:0040282	ORPHA:280195
28514	DLL1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:220386
28514	DLL1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93926
28514	DLL1	HP:0002451	Limb dystonia	HP:0040283	ORPHA:93924
28514	DLL1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93925
28514	DLL1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:220386
28514	DLL1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93926
28514	DLL1	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:93924
28514	DLL1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93925
28514	DLL1	HP:0009932	Single naris	HP:0040283	ORPHA:220386
28514	DLL1	HP:0009932	Single naris	HP:0040283	ORPHA:93926
28514	DLL1	HP:0009932	Single naris	HP:0040284	ORPHA:93924
28514	DLL1	HP:0009932	Single naris	HP:0040283	ORPHA:93925
28514	DLL1	HP:0009914	Cyclopia	HP:0040283	ORPHA:280200
28514	DLL1	HP:0009914	Cyclopia	HP:0040283	ORPHA:220386
28514	DLL1	HP:0009914	Cyclopia	HP:0040283	ORPHA:93926
28514	DLL1	HP:0009914	Cyclopia	HP:0040284	ORPHA:93924
28514	DLL1	HP:0009914	Cyclopia	HP:0040283	ORPHA:93925
28514	DLL1	HP:0002418	Abnormal midbrain morphology	HP:0040282	ORPHA:280195
28514	DLL1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:280195
28514	DLL1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280200
28514	DLL1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93926
28514	DLL1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93924
28514	DLL1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93925
28514	DLL1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220386
28514	DLL1	HP:0001273	Abnormal corpus callosum morphology	6/15	OMIM:618709
28514	DLL1	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:280195
28514	DLL1	HP:0001254	Lethargy	HP:0040282	ORPHA:93926
28514	DLL1	HP:0001254	Lethargy	HP:0040283	ORPHA:93924
28514	DLL1	HP:0001254	Lethargy	HP:0040282	ORPHA:93925
28514	DLL1	HP:0001254	Lethargy	HP:0040282	ORPHA:220386
28514	DLL1	HP:0001250	Seizure	6/14	OMIM:618709
28514	DLL1	HP:0001250	Seizure	HP:0040282	ORPHA:220386
28514	DLL1	HP:0001250	Seizure	HP:0040283	ORPHA:280200
28514	DLL1	HP:0001250	Seizure	HP:0040282	ORPHA:93926
28514	DLL1	HP:0001250	Seizure	HP:0040283	ORPHA:93924
28514	DLL1	HP:0001250	Seizure	HP:0040282	ORPHA:93925
28514	DLL1	HP:0001252	Hypotonia	6/14	OMIM:618709
28514	DLL1	HP:0001251	Ataxia	4/14	OMIM:618709
28514	DLL1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280195
28514	DLL1	HP:0001249	Intellectual disability	-	OMIM:618709
28514	DLL1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:220386
28514	DLL1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280200
28514	DLL1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93926
28514	DLL1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93924
28514	DLL1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93925
28514	DLL1	HP:0001263	Global developmental delay	12/14	OMIM:618709
28514	DLL1	HP:0001257	Spasticity	HP:0040282	ORPHA:93926
28514	DLL1	HP:0001257	Spasticity	HP:0040283	ORPHA:93924
28514	DLL1	HP:0001257	Spasticity	HP:0040282	ORPHA:93925
28514	DLL1	HP:0001257	Spasticity	HP:0040282	ORPHA:220386
28514	DLL1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:280200
28514	DLL1	HP:0007375	Abnormal septum pellucidum morphology	HP:0040283	ORPHA:280195
28514	DLL1	HP:0007330	Frontoethmoidal encephalocele	HP:0040283	ORPHA:280195
28514	DLL1	HP:0002540	Inability to walk	HP:0040282	ORPHA:93926
28514	DLL1	HP:0002540	Inability to walk	HP:0040284	ORPHA:93924
28514	DLL1	HP:0002540	Inability to walk	HP:0040282	ORPHA:93925
28514	DLL1	HP:0002540	Inability to walk	HP:0040282	ORPHA:220386
28514	DLL1	HP:0002539	Cortical dysplasia	3/15	OMIM:618709
28514	DLL1	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:280200
28514	DLL1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93926
28514	DLL1	HP:0001371	Flexion contracture	HP:0040284	ORPHA:93924
28514	DLL1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93925
28514	DLL1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:220386
28514	DLL1	HP:0001355	Megalencephaly	HP:0040283	ORPHA:280195
28514	DLL1	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:280200
28514	DLL1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93926
28514	DLL1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93924
28514	DLL1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93925
28514	DLL1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:280195
28514	DLL1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:220386
28514	DLL1	HP:0001344	Absent speech	HP:0040282	ORPHA:93926
28514	DLL1	HP:0001344	Absent speech	HP:0040284	ORPHA:93924
28514	DLL1	HP:0001344	Absent speech	HP:0040282	ORPHA:93925
28514	DLL1	HP:0001344	Absent speech	HP:0040282	ORPHA:220386
28514	DLL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618709
28514	DLL1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93926
28514	DLL1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93924
28514	DLL1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93925
28514	DLL1	HP:0002650	Scoliosis	HP:0040283	ORPHA:220386
28514	DLL1	HP:0002650	Scoliosis	HP:0040283	ORPHA:280200
28514	DLL1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93926
28514	DLL1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:93924
28514	DLL1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93925
28514	DLL1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:220386
28514	DLL1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:220386
28514	DLL1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93926
28514	DLL1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93924
28514	DLL1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93925
28514	DLL1	HP:0000175	Cleft palate	HP:0040283	ORPHA:280200
28514	DLL1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93926
28514	DLL1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93924
28514	DLL1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93925
28514	DLL1	HP:0000175	Cleft palate	HP:0040282	ORPHA:220386
28514	DLL1	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:280200
28514	DLL1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:220386
28514	DLL1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93926
28514	DLL1	HP:0006315	Solitary median maxillary central incisor	HP:0040284	ORPHA:93924
28514	DLL1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93925
28514	DLL1	HP:0008947	Floppy infant	HP:0040282	ORPHA:93926
28514	DLL1	HP:0008947	Floppy infant	HP:0040283	ORPHA:93924
28514	DLL1	HP:0008947	Floppy infant	HP:0040282	ORPHA:93925
28514	DLL1	HP:0008947	Floppy infant	HP:0040282	ORPHA:220386
28514	DLL1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93926
28514	DLL1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93924
28514	DLL1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93925
28514	DLL1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:220386
28514	DLL1	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:280195
28514	DLL1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:220386
28514	DLL1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93926
28514	DLL1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93924
28514	DLL1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93925
28514	DLL1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:220386
28514	DLL1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93926
28514	DLL1	HP:0002793	Abnormal pattern of respiration	HP:0040283	ORPHA:93924
28514	DLL1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93925
28514	DLL1	HP:0000104	Renal agenesis	HP:0040283	ORPHA:280200
28514	DLL1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93926
28514	DLL1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93924
28514	DLL1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93925
28514	DLL1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220386
28514	DLL1	HP:0002019	Constipation	HP:0040282	ORPHA:93926
28514	DLL1	HP:0002019	Constipation	HP:0040282	ORPHA:93924
28514	DLL1	HP:0002019	Constipation	HP:0040282	ORPHA:93925
28514	DLL1	HP:0002019	Constipation	HP:0040282	ORPHA:220386
28514	DLL1	HP:0002033	Poor suck	HP:0040281	ORPHA:93926
28514	DLL1	HP:0002033	Poor suck	HP:0040282	ORPHA:93924
28514	DLL1	HP:0002033	Poor suck	HP:0040281	ORPHA:93925
28514	DLL1	HP:0002033	Poor suck	HP:0040281	ORPHA:220386
28514	DLL1	HP:0002015	Dysphagia	HP:0040282	ORPHA:93926
28514	DLL1	HP:0002015	Dysphagia	HP:0040283	ORPHA:93924
28514	DLL1	HP:0002015	Dysphagia	HP:0040282	ORPHA:93925
28514	DLL1	HP:0002015	Dysphagia	HP:0040283	ORPHA:280195
28514	DLL1	HP:0002015	Dysphagia	HP:0040282	ORPHA:220386
28514	DLL1	HP:0002013	Vomiting	HP:0040282	ORPHA:93926
28514	DLL1	HP:0002013	Vomiting	HP:0040283	ORPHA:93924
28514	DLL1	HP:0002013	Vomiting	HP:0040282	ORPHA:93925
28514	DLL1	HP:0002013	Vomiting	HP:0040282	ORPHA:220386
28514	DLL1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:220386
28514	DLL1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93926
28514	DLL1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040283	ORPHA:93924
28514	DLL1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93925
28514	DLL1	HP:0005968	Temperature instability	HP:0040282	ORPHA:220386
28514	DLL1	HP:0005968	Temperature instability	HP:0040282	ORPHA:93926
28514	DLL1	HP:0005968	Temperature instability	HP:0040283	ORPHA:93924
28514	DLL1	HP:0005968	Temperature instability	HP:0040282	ORPHA:93925
28514	DLL1	HP:0002099	Asthma	HP:0040283	ORPHA:280200
28514	DLL1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:220386
28514	DLL1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93926
28514	DLL1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93924
28514	DLL1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93925
28514	DLL1	HP:0003468	Abnormal vertebral morphology	4/15	OMIM:618709
28514	DLL1	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280195
28514	DLL1	HP:0002119	Ventriculomegaly	8/15	OMIM:618709
28514	DLL1	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:280200
28514	DLL1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:220386
28514	DLL1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93926
28514	DLL1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93924
28514	DLL1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93925
28514	DLL1	HP:0002269	Abnormality of neuronal migration	1/15	OMIM:618709
28514	DLL1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93926
28514	DLL1	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:93924
28514	DLL1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93925
28514	DLL1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:220386
28514	DLL1	HP:0100710	Impulsivity	HP:0040282	ORPHA:280195
28514	DLL1	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:280200
28514	DLL1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:220386
28514	DLL1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93926
28514	DLL1	HP:0010654	Aplasia of the falx cerebri	HP:0040283	ORPHA:93924
28514	DLL1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93925
28514	DLL1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93926
28514	DLL1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93924
28514	DLL1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93925
28514	DLL1	HP:0007018	Attention deficit hyperactivity disorder	3/14	OMIM:618709
28514	DLL1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:220386
28514	DLL1	HP:0010644	Midnasal stenosis	HP:0040281	ORPHA:280200
28514	DLL1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93926
28514	DLL1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93924
28514	DLL1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93925
28514	DLL1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:220386
28514	DLL1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:220386
28514	DLL1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93926
28514	DLL1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93924
28514	DLL1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93925
28514	DLL1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:220386
28514	DLL1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93926
28514	DLL1	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:93924
28514	DLL1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93925
28514	DLL1	HP:0001028	Hemangioma	HP:0040283	ORPHA:280200
28514	DLL1	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:280200
28514	DLL1	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:280200
28514	DLL1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:220386
28514	DLL1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93926
28514	DLL1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93924
28514	DLL1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93925
28514	DLL1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:280200
28514	DLL1	HP:0000601	Hypotelorism	HP:0040282	ORPHA:280200
28514	DLL1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93926
28514	DLL1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93924
28514	DLL1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93925
28514	DLL1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:220386
28514	DLL1	HP:0012650	Perisylvian polymicrogyria	HP:0040283	ORPHA:280195
28514	DLL1	HP:0001999	Abnormal facial shape	8/15	OMIM:618709
28514	DLL1	HP:0004322	Short stature	HP:0040281	ORPHA:220386
28514	DLL1	HP:0004322	Short stature	HP:0040282	ORPHA:280200
28514	DLL1	HP:0004322	Short stature	HP:0040281	ORPHA:93926
28514	DLL1	HP:0004322	Short stature	HP:0040282	ORPHA:93924
28514	DLL1	HP:0004322	Short stature	HP:0040281	ORPHA:93925
28514	DLL1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:220386
28514	DLL1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93926
28514	DLL1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93924
28514	DLL1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93925
28514	DLL1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:280200
28514	DLL1	HP:0031913	Rhombencephalosynapsis	HP:0040283	ORPHA:280195
28514	DLL1	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:280195
28514	DLL1	HP:0000737	Irritability	HP:0040282	ORPHA:93926
28514	DLL1	HP:0000737	Irritability	HP:0040282	ORPHA:93924
28514	DLL1	HP:0000737	Irritability	HP:0040282	ORPHA:93925
28514	DLL1	HP:0000737	Irritability	HP:0040282	ORPHA:220386
28514	DLL1	HP:0000739	Anxiety	HP:0040282	ORPHA:93926
28514	DLL1	HP:0000739	Anxiety	HP:0040282	ORPHA:93924
28514	DLL1	HP:0000739	Anxiety	HP:0040282	ORPHA:93925
28514	DLL1	HP:0000739	Anxiety	HP:0040282	ORPHA:220386
28514	DLL1	HP:0000733	Motor stereotypy	4/14	OMIM:618709
28514	DLL1	HP:0000736	Short attention span	HP:0040282	ORPHA:280195
28514	DLL1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:220386
28514	DLL1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93926
28514	DLL1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93924
28514	DLL1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93925
28514	DLL1	HP:0000741	Apathy	HP:0040282	ORPHA:220386
28514	DLL1	HP:0000741	Apathy	HP:0040282	ORPHA:93926
28514	DLL1	HP:0000741	Apathy	HP:0040283	ORPHA:93924
28514	DLL1	HP:0000741	Apathy	HP:0040282	ORPHA:93925
28514	DLL1	HP:0000716	Depression	HP:0040282	ORPHA:93926
28514	DLL1	HP:0000716	Depression	HP:0040282	ORPHA:93924
28514	DLL1	HP:0000716	Depression	HP:0040282	ORPHA:93925
28514	DLL1	HP:0000716	Depression	HP:0040282	ORPHA:220386
28514	DLL1	HP:0000729	Autistic behavior	6/14	OMIM:618709
28514	DLL1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93926
28514	DLL1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93924
28514	DLL1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93925
28514	DLL1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:220386
28514	DLL1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:280195
28514	DLL1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:220386
28514	DLL1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93926
28514	DLL1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93924
28514	DLL1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93925
28514	DLL1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:220386
28514	DLL1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93926
28514	DLL1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93924
28514	DLL1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93925
28514	DLL1	HP:0003196	Short nose	HP:0040283	ORPHA:280200
28514	DLL1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93926
28514	DLL1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93924
28514	DLL1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93925
28514	DLL1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:220386
28514	DLL1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:220386
28514	DLL1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93926
28514	DLL1	HP:0000873	Diabetes insipidus	HP:0040282	ORPHA:93924
28514	DLL1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93925
28514	DLL1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:280200
28514	DLL1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:220386
28514	DLL1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93926
28514	DLL1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93924
28514	DLL1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93925
28514	DLL1	HP:0000863	Central diabetes insipidus	HP:0040282	ORPHA:280195
28514	DLL1	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:280195
28514	DLL1	HP:0012806	Proboscis	HP:0040283	ORPHA:220386
28514	DLL1	HP:0012806	Proboscis	HP:0040283	ORPHA:93926
28514	DLL1	HP:0012806	Proboscis	HP:0040284	ORPHA:93924
28514	DLL1	HP:0012806	Proboscis	HP:0040283	ORPHA:93925
28514	DLL1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:220386
28514	DLL1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93926
28514	DLL1	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:93924
28514	DLL1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93925
28514	DLL1	HP:0000826	Precocious puberty	HP:0040282	ORPHA:280195
28514	DLL1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:280200
28514	DLL1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93926
28514	DLL1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93924
28514	DLL1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93925
28514	DLL1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:220386
28514	DLL1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:220386
28514	DLL1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93926
28514	DLL1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93924
28514	DLL1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93925
28514	DLL1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:220386
28514	DLL1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93926
28514	DLL1	HP:0045005	Neural tube defect	HP:0040284	ORPHA:93924
28514	DLL1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93925
28514	DLL1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:220386
28514	DLL1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93926
28514	DLL1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93924
28514	DLL1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93925
28514	DLL1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93926
28514	DLL1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93924
28514	DLL1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93925
28514	DLL1	HP:0000256	Macrocephaly	1/15	OMIM:618709
28514	DLL1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:220386
28514	DLL1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93926
28514	DLL1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93924
28514	DLL1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93925
28514	DLL1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:220386
28514	DLL1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93926
28514	DLL1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93924
28514	DLL1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93925
28514	DLL1	HP:0000238	Hydrocephalus	3/15	OMIM:618709
28514	DLL1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220386
28514	DLL1	HP:0000252	Microcephaly	HP:0040283	ORPHA:280195
28514	DLL1	HP:0000252	Microcephaly	2/15	OMIM:618709
28514	DLL1	HP:0000252	Microcephaly	HP:0040282	ORPHA:220386
28514	DLL1	HP:0000252	Microcephaly	HP:0040282	ORPHA:280200
28514	DLL1	HP:0000252	Microcephaly	HP:0040282	ORPHA:93926
28514	DLL1	HP:0000252	Microcephaly	HP:0040283	ORPHA:93924
28514	DLL1	HP:0000252	Microcephaly	HP:0040282	ORPHA:93925
28514	DLL1	HP:0000218	High palate	HP:0040282	ORPHA:93926
28514	DLL1	HP:0000218	High palate	HP:0040282	ORPHA:93924
28514	DLL1	HP:0000218	High palate	HP:0040282	ORPHA:93925
28514	DLL1	HP:0000218	High palate	HP:0040282	ORPHA:220386
28514	DLL1	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:280195
28514	DLL1	HP:0002871	Central apnea	HP:0040282	ORPHA:220386
28514	DLL1	HP:0002871	Central apnea	HP:0040282	ORPHA:93926
28514	DLL1	HP:0002871	Central apnea	HP:0040283	ORPHA:93924
28514	DLL1	HP:0002871	Central apnea	HP:0040282	ORPHA:93925
28514	DLL1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:280200
28514	DLL1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93926
28514	DLL1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:93924
28514	DLL1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93925
28514	DLL1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:220386
28514	DLL1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:280200
28514	DLL1	HP:0001510	Growth delay	HP:0040281	ORPHA:93926
28514	DLL1	HP:0001510	Growth delay	HP:0040282	ORPHA:93924
28514	DLL1	HP:0001510	Growth delay	HP:0040281	ORPHA:93925
28514	DLL1	HP:0001510	Growth delay	HP:0040281	ORPHA:220386
28514	DLL1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:220386
28514	DLL1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93926
28514	DLL1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93924
28514	DLL1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93925
28514	DLL1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:280195
28514	DLL1	HP:0000322	Short philtrum	HP:0040282	ORPHA:280200
28514	DLL1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93926
28514	DLL1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93924
28514	DLL1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93925
28514	DLL1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:220386
28514	DLL1	HP:0001622	Premature birth	HP:0040282	ORPHA:280200
28514	DLL1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:280200
28514	DLL1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93926
28514	DLL1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93924
28514	DLL1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93925
28514	DLL1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:220386
28514	DLL1	HP:0000486	Strabismus	HP:0040283	ORPHA:280200
28514	DLL1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93926
28514	DLL1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:93924
28514	DLL1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93925
28514	DLL1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:220386
28514	DLL1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:280200
28514	DLL1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93926
28514	DLL1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93924
28514	DLL1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93925
28514	DLL1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:220386
28514	DLL1	HP:0012443	Abnormal brain morphology	11/15	OMIM:618709
28514	DLL1	HP:0000453	Choanal atresia	HP:0040281	ORPHA:280200
28514	DLL1	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:280200
28755	TRAC	HP:0000007	Autosomal recessive inheritance	-	OMIM:615387
28755	TRAC	HP:0002716	Lymphadenopathy	2/2	OMIM:615387
28755	TRAC	HP:0002014	Diarrhea	2/2	OMIM:615387
28755	TRAC	HP:0003593	Infantile onset	1/2	OMIM:615387
28755	TRAC	HP:0002240	Hepatomegaly	2/2	OMIM:615387
28755	TRAC	HP:0002232	Patchy alopecia	1/2	OMIM:615387
28755	TRAC	HP:0002205	Recurrent respiratory infections	2/2	OMIM:615387
28755	TRAC	HP:0032061	Severely increased total eosinophil count	1/2	OMIM:615387
28755	TRAC	HP:0020072	Persistent EBV viremia	1/2	OMIM:615387
28755	TRAC	HP:0001045	Vitiligo	1/2	OMIM:615387
28755	TRAC	HP:0032170	Severe varicella zoster infection	1/2	OMIM:615387
28755	TRAC	HP:0009098	Chronic oral candidiasis	2/2	OMIM:615387
28755	TRAC	HP:0011463	Childhood onset	1/2	OMIM:615387
28755	TRAC	HP:0001508	Failure to thrive	2/2	OMIM:615387
28755	TRAC	HP:0002960	Autoimmunity	2/2	OMIM:615387
28755	TRAC	HP:0000403	Recurrent otitis media	2/2	OMIM:615387
28755	TRAC	HP:0001744	Splenomegaly	1/2	OMIM:615387
28755	TRAC	HP:0001890	Autoimmune hemolytic anemia	1/2	OMIM:615387
28755	TRAC	HP:0001875	Decreased total neutrophil count	2/2	OMIM:615387
28952	CCDC22	HP:0001156	Brachydactyly	HP:0040283	ORPHA:7
28952	CCDC22	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:7
28952	CCDC22	HP:0001159	Syndactyly	-	OMIM:300963
28952	CCDC22	HP:0002465	Poor speech	2/2	OMIM:300963
28952	CCDC22	HP:0001195	Single umbilical artery	HP:0040283	ORPHA:7
28952	CCDC22	HP:0009882	Short distal phalanx of finger	-	OMIM:300963
28952	CCDC22	HP:0001252	Hypotonia	2/2	OMIM:300963
28952	CCDC22	HP:0001252	Hypotonia	HP:0040281	ORPHA:7
28952	CCDC22	HP:0001249	Intellectual disability	5/7	OMIM:300963
28952	CCDC22	HP:0001249	Intellectual disability	HP:0040281	ORPHA:7
28952	CCDC22	HP:0001263	Global developmental delay	2/2	OMIM:300963
28952	CCDC22	HP:0001263	Global developmental delay	HP:0040281	ORPHA:7
28952	CCDC22	HP:0002566	Intestinal malrotation	1/5	OMIM:300963
28952	CCDC22	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:7
28952	CCDC22	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:7
28952	CCDC22	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:7
28952	CCDC22	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:7
28952	CCDC22	HP:0001212	Prominent fingertip pads	2/2	OMIM:300963
28952	CCDC22	HP:0000047	Hypospadias	HP:0040283	ORPHA:7
28952	CCDC22	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:7
28952	CCDC22	HP:0000028	Cryptorchidism	4/7	OMIM:300963
28952	CCDC22	HP:0008897	Postnatal growth retardation	2/2	OMIM:300963
28952	CCDC22	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:7
28952	CCDC22	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:7
28952	CCDC22	HP:0001305	Dandy-Walker malformation	3/7	OMIM:300963
28952	CCDC22	HP:0001305	Dandy-Walker malformation	HP:0040281	ORPHA:7
28952	CCDC22	HP:0002650	Scoliosis	-	OMIM:300963
28952	CCDC22	HP:0002650	Scoliosis	HP:0040282	ORPHA:7
28952	CCDC22	HP:0001321	Cerebellar hypoplasia	1/5	OMIM:300963
28952	CCDC22	HP:0000175	Cleft palate	HP:0040282	ORPHA:7
28952	CCDC22	HP:0002705	High, narrow palate	HP:0040282	ORPHA:7
28952	CCDC22	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:7
28952	CCDC22	HP:0001419	X-linked recessive inheritance	-	OMIM:300963
28952	CCDC22	HP:0002023	Anal atresia	HP:0040283	ORPHA:7
28952	CCDC22	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:7
28952	CCDC22	HP:0002007	Frontal bossing	HP:0040281	ORPHA:7
28952	CCDC22	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:7
28952	CCDC22	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:7
28952	CCDC22	HP:0002162	Low posterior hairline	2/2	OMIM:300963
28952	CCDC22	HP:0100490	Camptodactyly of finger	2/2	OMIM:300963
28952	CCDC22	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:7
28952	CCDC22	HP:0100702	Arachnoid cyst	1/5	OMIM:300963
28952	CCDC22	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:7
28952	CCDC22	HP:0010808	Protruding tongue	2/2	OMIM:300963
28952	CCDC22	HP:0004971	Pulmonary artery hypoplasia	1/5	OMIM:300963
28952	CCDC22	HP:0004209	Clinodactyly of the 5th finger	2/2	OMIM:300963
28952	CCDC22	HP:0000648	Optic atrophy	HP:0040283	ORPHA:7
28952	CCDC22	HP:0000612	Iris coloboma	HP:0040283	ORPHA:7
28952	CCDC22	HP:0010055	Broad hallux	2/2	OMIM:300963
28952	CCDC22	HP:0004322	Short stature	HP:0040282	ORPHA:7
28952	CCDC22	HP:0004383	Hypoplastic left heart	HP:0040282	ORPHA:7
28952	CCDC22	HP:0004397	Ectopic anus	HP:0040283	ORPHA:7
28952	CCDC22	HP:0031936	Delayed ability to walk	2/2	OMIM:300963
28952	CCDC22	HP:0003196	Short nose	HP:0040282	ORPHA:7
28952	CCDC22	HP:0000921	Missing ribs	HP:0040283	ORPHA:7
28952	CCDC22	HP:0004482	Relative macrocephaly	2/2	OMIM:300963
28952	CCDC22	HP:0000835	Adrenal hypoplasia	HP:0040283	ORPHA:7
28952	CCDC22	HP:0003272	Abnormal hip bone morphology	HP:0040283	ORPHA:7
28952	CCDC22	HP:0000260	Wide anterior fontanel	2/2	OMIM:300963
28952	CCDC22	HP:0000256	Macrocephaly	HP:0040282	ORPHA:7
28952	CCDC22	HP:0000269	Prominent occiput	HP:0040282	ORPHA:7
28952	CCDC22	HP:0002808	Kyphosis	HP:0040282	ORPHA:7
28952	CCDC22	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:7
28952	CCDC22	HP:0000235	Abnormal cranial suture/fontanelle morphology	HP:0040281	ORPHA:7
28952	CCDC22	HP:0000218	High palate	-	OMIM:300963
28952	CCDC22	HP:0001522	Death in infancy	HP:0040282	ORPHA:7
28952	CCDC22	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:7
28952	CCDC22	HP:0012385	Camptodactyly	2/2	OMIM:300963
28952	CCDC22	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:7
28952	CCDC22	HP:0002937	Hemivertebrae	HP:0040283	ORPHA:7
28952	CCDC22	HP:0000369	Low-set ears	HP:0040282	ORPHA:7
28952	CCDC22	HP:0000337	Broad forehead	2/2	OMIM:300963
28952	CCDC22	HP:0000347	Micrognathia	HP:0040283	ORPHA:7
28952	CCDC22	HP:0001650	Aortic valve stenosis	HP:0040282	ORPHA:7
28952	CCDC22	HP:0000316	Hypertelorism	14/14	OMIM:300963
28952	CCDC22	HP:0000316	Hypertelorism	HP:0040281	ORPHA:7
28952	CCDC22	HP:0001643	Patent ductus arteriosus	-	OMIM:300963
28952	CCDC22	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:7
28952	CCDC22	HP:0000329	Facial hemangioma	HP:0040283	ORPHA:7
28952	CCDC22	HP:0000322	Short philtrum	2/2	OMIM:300963
28952	CCDC22	HP:0001629	Ventricular septal defect	3/7	OMIM:300963
28952	CCDC22	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:7
28952	CCDC22	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:7
28952	CCDC22	HP:0001631	Atrial septal defect	1/5	OMIM:300963
28952	CCDC22	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:7
28952	CCDC22	HP:0001633	Abnormal mitral valve morphology	HP:0040282	ORPHA:7
28952	CCDC22	HP:0006695	Atrioventricular canal defect	HP:0040282	ORPHA:7
28952	CCDC22	HP:0001702	Abnormal tricuspid valve morphology	HP:0040282	ORPHA:7
28952	CCDC22	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:7
28952	CCDC22	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:7
28952	CCDC22	HP:0000475	Broad neck	2/2	OMIM:300963
28952	CCDC22	HP:0000470	Short neck	HP:0040283	ORPHA:7
28952	CCDC22	HP:0000444	Convex nasal ridge	-	OMIM:300963
28952	CCDC22	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:7
28952	CCDC22	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040283	ORPHA:7
28952	CCDC22	HP:0001845	Overlapping toe	2/2	OMIM:300963
28952	CCDC22	HP:0000501	Glaucoma	1/2	OMIM:300963
28952	CCDC22	HP:0000501	Glaucoma	HP:0040283	ORPHA:7
28952	CCDC22	HP:0001804	Hypoplastic fingernail	HP:0040283	ORPHA:7
28952	CCDC22	HP:0000582	Upslanted palpebral fissure	2/2	OMIM:300963
28952	CCDC22	HP:0000567	Chorioretinal coloboma	HP:0040283	ORPHA:7
28956	LAMTOR2	HP:0007443	Partial albinism	HP:0040281	ORPHA:90023
28956	LAMTOR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:610798
28956	LAMTOR2	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:90023
28956	LAMTOR2	HP:0002721	Immunodeficiency	-	OMIM:610798
28956	LAMTOR2	HP:0001010	Hypopigmentation of the skin	-	OMIM:610798
28956	LAMTOR2	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:90023
28956	LAMTOR2	HP:0004322	Short stature	-	OMIM:610798
28956	LAMTOR2	HP:0004322	Short stature	HP:0040281	ORPHA:90023
28956	LAMTOR2	HP:0000280	Coarse facial features	HP:0040281	ORPHA:90023
28956	LAMTOR2	HP:0000280	Coarse facial features	-	OMIM:610798
28956	LAMTOR2	HP:0002850	Decreased circulating total IgM	-	OMIM:610798
28956	LAMTOR2	HP:0006538	Recurrent bronchopulmonary infections	-	OMIM:610798
28956	LAMTOR2	HP:0006538	Recurrent bronchopulmonary infections	HP:0040281	ORPHA:90023
28956	LAMTOR2	HP:0001875	Decreased total neutrophil count	HP:0040281	ORPHA:90023
28956	LAMTOR2	HP:0001875	Decreased total neutrophil count	-	OMIM:610798
28957	MRPS28	HP:0001290	Generalized hypotonia	1/1	OMIM:618958
28957	MRPS28	HP:0000028	Cryptorchidism	1/1	OMIM:618958
28957	MRPS28	HP:0000007	Autosomal recessive inheritance	-	OMIM:618958
28957	MRPS28	HP:0002015	Dysphagia	1/1	OMIM:618958
28957	MRPS28	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:618958
28957	MRPS28	HP:0002240	Hepatomegaly	1/1	OMIM:618958
28957	MRPS28	HP:0004279	Short palm	1/1	OMIM:618958
28957	MRPS28	HP:0001944	Dehydration	1/1	OMIM:618958
28957	MRPS28	HP:0001943	Hypoglycemia	1/1	OMIM:618958
28957	MRPS28	HP:0001942	Metabolic acidosis	1/1	OMIM:618958
28957	MRPS28	HP:0000926	Platyspondyly	1/1	OMIM:618958
28957	MRPS28	HP:0010248	Cone-shaped epiphyses of the distal phalanges of the hand	1/1	OMIM:618958
28957	MRPS28	HP:0000252	Microcephaly	1/1	OMIM:618958
28957	MRPS28	HP:0001508	Failure to thrive	1/1	OMIM:618958
28957	MRPS28	HP:0001511	Intrauterine growth retardation	1/1	OMIM:618958
28957	MRPS28	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:618958
28957	MRPS28	HP:0000358	Posteriorly rotated ears	1/1	OMIM:618958
28957	MRPS28	HP:0000369	Low-set ears	1/1	OMIM:618958
28957	MRPS28	HP:0000343	Long philtrum	1/1	OMIM:618958
28957	MRPS28	HP:0000311	Round face	1/1	OMIM:618958
28957	MRPS28	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:618958
28957	MRPS28	HP:0000470	Short neck	1/1	OMIM:618958
28957	MRPS28	HP:0001770	Toe syndactyly	1/1	OMIM:618958
28957	MRPS28	HP:0000518	Cataract	1/1	OMIM:618958
28957	MRPS28	HP:0000508	Ptosis	1/1	OMIM:618958
28958	COA3	HP:0001263	Global developmental delay	1/1	OMIM:619058
28958	COA3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619058
28958	COA3	HP:0100543	Cognitive impairment	1/1	OMIM:619058
28958	COA3	HP:0003546	Exercise intolerance	1/1	OMIM:619058
28958	COA3	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:619058
28958	COA3	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1/1	OMIM:619058
28958	COA3	HP:0007141	Sensorimotor neuropathy	1/1	OMIM:619058
28958	COA3	HP:0004322	Short stature	1/1	OMIM:619058
28958	COA3	HP:0000286	Epicanthus	1/1	OMIM:619058
28958	COA3	HP:0001513	Obesity	1/1	OMIM:619058
28958	COA3	HP:0000490	Deeply set eye	1/1	OMIM:619058
28960	DCPS	HP:0001156	Brachydactyly	3/3	OMIM:616459
28960	DCPS	HP:0001250	Seizure	1/3	OMIM:616459
28960	DCPS	HP:0001252	Hypotonia	3/3	OMIM:616459
28960	DCPS	HP:0001263	Global developmental delay	3/3	OMIM:616459
28960	DCPS	HP:0002540	Inability to walk	1/3	OMIM:616459
28960	DCPS	HP:0025336	Delayed ability to sit	3/3	OMIM:616459
28960	DCPS	HP:0001382	Joint hypermobility	3/3	OMIM:616459
28960	DCPS	HP:0001344	Absent speech	1/3	OMIM:616459
28960	DCPS	HP:0000007	Autosomal recessive inheritance	-	OMIM:616459
28960	DCPS	HP:0000160	Narrow mouth	3/3	OMIM:616459
28960	DCPS	HP:0002066	Gait ataxia	1/3	OMIM:616459
28960	DCPS	HP:0003577	Congenital onset	6/6	OMIM:616459
28960	DCPS	HP:0001010	Hypopigmentation of the skin	3/3	OMIM:616459
28960	DCPS	HP:0031936	Delayed ability to walk	3/3	OMIM:616459
28960	DCPS	HP:0000750	Delayed speech and language development	3/3	OMIM:616459
28960	DCPS	HP:0003196	Short nose	3/3	OMIM:616459
28960	DCPS	HP:0000252	Microcephaly	3/3	OMIM:616459
28960	DCPS	HP:0000219	Thin upper lip vermilion	3/3	OMIM:616459
28960	DCPS	HP:0012368	Flat face	3/3	OMIM:616459
28960	DCPS	HP:0000369	Low-set ears	3/3	OMIM:616459
28960	DCPS	HP:0001631	Atrial septal defect	3/3	OMIM:616459
28960	DCPS	HP:0000490	Deeply set eye	3/3	OMIM:616459
28960	DCPS	HP:0012450	Chronic constipation	3/3	OMIM:616459
28960	DCPS	HP:0001852	Sandal gap	3/3	OMIM:616459
28962	OSTM1	HP:0025116	Fetal distress	HP:0040283	ORPHA:85179
28962	OSTM1	HP:0001141	Severely reduced visual acuity	1/3	OMIM:259720
28962	OSTM1	HP:0002421	Poor head control	1/3	OMIM:259720
28962	OSTM1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
28962	OSTM1	HP:0001293	Cranial nerve compression	-	OMIM:131300
28962	OSTM1	HP:0001290	Generalized hypotonia	-	OMIM:259720
28962	OSTM1	HP:0001276	Hypertonia	3/5	OMIM:259720
28962	OSTM1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:85179
28962	OSTM1	HP:0001250	Seizure	1/1	OMIM:259720
28962	OSTM1	HP:0001250	Seizure	HP:0040282	ORPHA:85179
28962	OSTM1	HP:0001252	Hypotonia	2/7	OMIM:615777
28962	OSTM1	HP:0001249	Intellectual disability	5/7	OMIM:615777
28962	OSTM1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:85179
28962	OSTM1	HP:0001263	Global developmental delay	-	OMIM:615777
28962	OSTM1	HP:0002515	Waddling gait	54/102	OMIM:131300
28962	OSTM1	HP:0003826	Stillbirth	-	OMIM:259720
28962	OSTM1	HP:0002510	Spastic tetraplegia	-	OMIM:259720
28962	OSTM1	HP:0002509	Limb hypertonia	1/3	OMIM:259720
28962	OSTM1	HP:0001399	Hepatic failure	-	OMIM:259720
28962	OSTM1	HP:0001382	Joint hypermobility	-	OMIM:615777
28962	OSTM1	HP:0001347	Hyperreflexia	2/4	OMIM:259720
28962	OSTM1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
28962	OSTM1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
28962	OSTM1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
28962	OSTM1	HP:0001324	Muscle weakness	40/96	OMIM:131300
28962	OSTM1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
28962	OSTM1	HP:0001338	Partial agenesis of the corpus callosum	HP:0040282	ORPHA:85179
28962	OSTM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:259720
28962	OSTM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
28962	OSTM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
28962	OSTM1	HP:0002650	Scoliosis	12/14	OMIM:131300
28962	OSTM1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
28962	OSTM1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
28962	OSTM1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
28962	OSTM1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
28962	OSTM1	HP:0000175	Cleft palate	2/7	OMIM:615777
28962	OSTM1	HP:0008936	Axial hypotonia	2/4	OMIM:259720
28962	OSTM1	HP:0001433	Hepatosplenomegaly	2/3	OMIM:259720
28962	OSTM1	HP:0002090	Pneumonia	HP:0040283	ORPHA:85179
28962	OSTM1	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:85179
28962	OSTM1	HP:0002059	Cerebral atrophy	3/4	OMIM:259720
28962	OSTM1	HP:0003388	Easy fatigability	36/76	OMIM:131300
28962	OSTM1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
28962	OSTM1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:85179
28962	OSTM1	HP:0002119	Ventriculomegaly	2/4	OMIM:259720
28962	OSTM1	HP:0002197	Generalized-onset seizure	-	OMIM:259720
28962	OSTM1	HP:0002169	Clonus	1/3	OMIM:259720
28962	OSTM1	HP:0003593	Infantile onset	3/3	OMIM:259720
28962	OSTM1	HP:0002240	Hepatomegaly	1/1	OMIM:259720
28962	OSTM1	HP:0010628	Facial palsy	1/1	OMIM:259720
28962	OSTM1	HP:0003510	Severe short stature	7/7	OMIM:615777
28962	OSTM1	HP:0004840	Hypochromic microcytic anemia	1/1	OMIM:259720
28962	OSTM1	HP:0002315	Headache	-	OMIM:131300
28962	OSTM1	HP:0004976	Knee dislocation	6/7	OMIM:615777
28962	OSTM1	HP:0007204	Diffuse white matter abnormalities	1/3	OMIM:259720
28962	OSTM1	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:85179
28962	OSTM1	HP:0009803	Short phalanx of finger	-	OMIM:615777
28962	OSTM1	HP:0009763	Limb pain	63/92	OMIM:131300
28962	OSTM1	HP:0003623	Neonatal onset	2/2	OMIM:259720
28962	OSTM1	HP:0003621	Juvenile onset	-	OMIM:131300
28962	OSTM1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
28962	OSTM1	HP:0006824	Cranial nerve paralysis	HP:0040282	ORPHA:85179
28962	OSTM1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
28962	OSTM1	HP:0000639	Nystagmus	1/3	OMIM:259720
28962	OSTM1	HP:6001056	Out-toeing	-	OMIM:131300
28962	OSTM1	HP:0000651	Diplopia	-	OMIM:131300
28962	OSTM1	HP:0000648	Optic atrophy	2/4	OMIM:259720
28962	OSTM1	HP:0001978	Extramedullary hematopoiesis	-	OMIM:259720
28962	OSTM1	HP:0001974	Increased total leukocyte count	1/1	OMIM:259720
28962	OSTM1	HP:0001956	Truncal obesity	2/7	OMIM:615777
28962	OSTM1	HP:0001903	Anemia	HP:0040283	OMIM:131300
28962	OSTM1	HP:0001903	Anemia	2/3	OMIM:259720
28962	OSTM1	HP:0010049	Short metacarpal	-	OMIM:615777
28962	OSTM1	HP:0000678	Dental crowding	-	OMIM:615777
28962	OSTM1	HP:0000670	Carious teeth	-	OMIM:131300
28962	OSTM1	HP:0011304	Broad thumb	2/7	OMIM:615777
28962	OSTM1	HP:0000668	Hypodontia	-	OMIM:615777
28962	OSTM1	HP:0000664	Synophrys	-	OMIM:615777
28962	OSTM1	HP:0004322	Short stature	-	OMIM:259720
28962	OSTM1	HP:0004330	Increased skull ossification	HP:0040282	ORPHA:85179
28962	OSTM1	HP:0004396	Poor appetite	-	OMIM:131300
28962	OSTM1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
28962	OSTM1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
28962	OSTM1	HP:0003015	Flared metaphysis	-	OMIM:259720
28962	OSTM1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
28962	OSTM1	HP:0003026	Short long bone	7/7	OMIM:615777
28962	OSTM1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
28962	OSTM1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
28962	OSTM1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
28962	OSTM1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
28962	OSTM1	HP:0000737	Irritability	1/1	OMIM:259720
28962	OSTM1	HP:0000750	Delayed speech and language development	-	OMIM:615777
28962	OSTM1	HP:0011499	Mydriasis	1/1	OMIM:259720
28962	OSTM1	HP:0011461	Fetal onset	7/7	OMIM:615777
28962	OSTM1	HP:0000774	Narrow chest	2/7	OMIM:615777
28962	OSTM1	HP:0004437	Cranial hyperostosis	1/1	OMIM:259720
28962	OSTM1	HP:0000926	Platyspondyly	1/7	OMIM:615777
28962	OSTM1	HP:0003180	Flat acetabular roof	-	OMIM:615777
28962	OSTM1	HP:0004482	Relative macrocephaly	-	OMIM:615777
28962	OSTM1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
28962	OSTM1	HP:0000823	Delayed puberty	-	OMIM:131300
28962	OSTM1	HP:0000894	Short clavicles	-	OMIM:615777
28962	OSTM1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
28962	OSTM1	HP:0003256	Abnormality of the coagulation cascade	-	OMIM:259720
28962	OSTM1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
28962	OSTM1	HP:0000286	Epicanthus	1/7	OMIM:615777
28962	OSTM1	HP:0000280	Coarse facial features	2/7	OMIM:615777
28962	OSTM1	HP:0002827	Hip dislocation	3/7	OMIM:615777
28962	OSTM1	HP:0000238	Hydrocephalus	-	OMIM:259720
28962	OSTM1	HP:0000252	Microcephaly	2/4	OMIM:259720
28962	OSTM1	HP:0000252	Microcephaly	-	OMIM:615777
28962	OSTM1	HP:0002878	Respiratory failure	-	OMIM:259720
28962	OSTM1	HP:0000212	Gingival overgrowth	1/3	OMIM:259720
28962	OSTM1	HP:0025517	Hypoplastic hippocampus	HP:0040282	ORPHA:85179
28962	OSTM1	HP:0002857	Genu valgum	-	OMIM:131300
28962	OSTM1	HP:0001541	Ascites	-	OMIM:259720
28962	OSTM1	HP:0001533	Slender build	-	OMIM:131300
28962	OSTM1	HP:0030043	Hip subluxation	1/3	OMIM:259720
28962	OSTM1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
28962	OSTM1	HP:0001510	Growth delay	1/3	OMIM:259720
28962	OSTM1	HP:0007807	Optic nerve compression	-	OMIM:131300
28962	OSTM1	HP:0012368	Flat face	7/7	OMIM:615777
28962	OSTM1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
28962	OSTM1	HP:0002904	Hyperbilirubinemia	-	OMIM:259720
28962	OSTM1	HP:0002901	Hypocalcemia	-	OMIM:259720
28962	OSTM1	HP:0000365	Hearing impairment	10/67	OMIM:131300
28962	OSTM1	HP:0000343	Long philtrum	1/3	OMIM:259720
28962	OSTM1	HP:0000343	Long philtrum	1/7	OMIM:615777
28962	OSTM1	HP:0011002	Osteopetrosis	5/5	OMIM:259720
28962	OSTM1	HP:0011001	Increased bone mineral density	-	OMIM:131300
28962	OSTM1	HP:0011001	Increased bone mineral density	2/2	OMIM:259720
28962	OSTM1	HP:0000347	Micrognathia	-	OMIM:259720
28962	OSTM1	HP:0000321	Square face	1/3	OMIM:259720
28962	OSTM1	HP:0000311	Round face	2/7	OMIM:615777
28962	OSTM1	HP:0002970	Genu varum	-	OMIM:615777
28962	OSTM1	HP:0000303	Mandibular prognathia	-	OMIM:131300
28962	OSTM1	HP:0007965	Undetectable visual evoked potentials	1/3	OMIM:259720
28962	OSTM1	HP:0030328	Decreased osteoclast count	-	OMIM:259720
28962	OSTM1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:85179
28962	OSTM1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
28962	OSTM1	HP:0012444	Brain atrophy	HP:0040282	ORPHA:85179
28962	OSTM1	HP:0012447	Abnormal myelination	HP:0040282	ORPHA:85179
28962	OSTM1	HP:0000470	Short neck	1/7	OMIM:615777
28962	OSTM1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
28962	OSTM1	HP:0001763	Pes planus	1/7	OMIM:615777
28962	OSTM1	HP:0001744	Splenomegaly	1/1	OMIM:259720
28962	OSTM1	HP:0001840	Metatarsus adductus	-	OMIM:615777
28962	OSTM1	HP:0000520	Proptosis	2/4	OMIM:131300
28962	OSTM1	HP:0000520	Proptosis	1/1	OMIM:259720
28962	OSTM1	HP:0000520	Proptosis	7/7	OMIM:615777
28962	OSTM1	HP:0000505	Visual impairment	1/1	OMIM:259720
28962	OSTM1	HP:0000592	Blue sclerae	2/7	OMIM:615777
28962	OSTM1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
28962	OSTM1	HP:0012514	Lower limb pain	4/4	OMIM:131300
28962	OSTM1	HP:0000543	Optic disc pallor	2/3	OMIM:259720
28962	OSTM1	HP:0001873	Thrombocytopenia	3/4	OMIM:259720
28962	OSTM1	HP:0001876	Pancytopenia	1/3	OMIM:259720
28976	ACAD9	HP:0001298	Encephalopathy	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0001298	Encephalopathy	3/4	OMIM:611126
28976	ACAD9	HP:0001297	Stroke	-	OMIM:611126
28976	ACAD9	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0001290	Generalized hypotonia	-	OMIM:611126
28976	ACAD9	HP:0001252	Hypotonia	-	OMIM:611126
28976	ACAD9	HP:0003819	Death in childhood	2/4	OMIM:611126
28976	ACAD9	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0001399	Hepatic failure	-	OMIM:611126
28976	ACAD9	HP:0001324	Muscle weakness	-	OMIM:611126
28976	ACAD9	HP:0000007	Autosomal recessive inheritance	-	OMIM:611126
28976	ACAD9	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0001414	Microvesicular hepatic steatosis	-	OMIM:611126
28976	ACAD9	HP:0003326	Myalgia	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0008151	Prolonged prothrombin time	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0003473	Fatigable weakness	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:99901
28976	ACAD9	HP:0011923	Decreased activity of mitochondrial complex I	4/4	OMIM:611126
28976	ACAD9	HP:0002181	Cerebral edema	-	OMIM:611126
28976	ACAD9	HP:0002181	Cerebral edema	HP:0040283	ORPHA:99901
28976	ACAD9	HP:0003577	Congenital onset	4/4	OMIM:611126
28976	ACAD9	HP:0003546	Exercise intolerance	1/4	OMIM:611126
28976	ACAD9	HP:0008331	Elevated creatine kinase after exercise	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0001943	Hypoglycemia	-	OMIM:611126
28976	ACAD9	HP:0001958	Nonketotic hypoglycemia	HP:0040283	ORPHA:99901
28976	ACAD9	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0003198	Myopathy	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0003128	Lactic acidosis	4/4	OMIM:611126
28976	ACAD9	HP:0003234	Decreased circulating carnitine concentration	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0003215	Dicarboxylic aciduria	1/2	OMIM:611126
28976	ACAD9	HP:0003215	Dicarboxylic aciduria	HP:0040283	ORPHA:99901
28976	ACAD9	HP:0045045	Elevated circulating acylcarnitine concentration	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0011695	Cerebellar hemorrhage	HP:0040283	ORPHA:99901
28976	ACAD9	HP:0001522	Death in infancy	1/4	OMIM:611126
28976	ACAD9	HP:0001508	Failure to thrive	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0006554	Acute hepatic failure	HP:0040283	ORPHA:99901
28976	ACAD9	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:611126
28976	ACAD9	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:99901
28976	ACAD9	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0001644	Dilated cardiomyopathy	-	OMIM:611126
28976	ACAD9	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0001639	Hypertrophic cardiomyopathy	4/4	OMIM:611126
28976	ACAD9	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0001635	Congestive heart failure	-	OMIM:611126
28976	ACAD9	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:99901
28976	ACAD9	HP:0001873	Thrombocytopenia	-	OMIM:611126
28981	IFT81	HP:0001156	Brachydactyly	-	OMIM:617895
28981	IFT81	HP:0001159	Syndactyly	-	OMIM:617895
28981	IFT81	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
28981	IFT81	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
28981	IFT81	HP:0001293	Cranial nerve compression	-	OMIM:131300
28981	IFT81	HP:0001290	Generalized hypotonia	2/2	OMIM:617895
28981	IFT81	HP:0001252	Hypotonia	2/7	OMIM:615777
28981	IFT81	HP:0001249	Intellectual disability	5/7	OMIM:615777
28981	IFT81	HP:0001263	Global developmental delay	-	OMIM:615777
28981	IFT81	HP:0002515	Waddling gait	54/102	OMIM:131300
28981	IFT81	HP:0000062	Ambiguous genitalia	-	OMIM:617895
28981	IFT81	HP:0001382	Joint hypermobility	-	OMIM:615777
28981	IFT81	HP:0002694	Sclerosis of skull base	-	OMIM:131300
28981	IFT81	HP:0008897	Postnatal growth retardation	-	OMIM:615777
28981	IFT81	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
28981	IFT81	HP:0001324	Muscle weakness	40/96	OMIM:131300
28981	IFT81	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
28981	IFT81	HP:0000007	Autosomal recessive inheritance	-	OMIM:617895
28981	IFT81	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
28981	IFT81	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
28981	IFT81	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
28981	IFT81	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
28981	IFT81	HP:0002650	Scoliosis	12/14	OMIM:131300
28981	IFT81	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
28981	IFT81	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
28981	IFT81	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
28981	IFT81	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
28981	IFT81	HP:0000175	Cleft palate	2/7	OMIM:615777
28981	IFT81	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
28981	IFT81	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
28981	IFT81	HP:0011800	Midface retrusion	1/2	OMIM:617895
28981	IFT81	HP:0002089	Pulmonary hypoplasia	-	OMIM:617895
28981	IFT81	HP:0002098	Respiratory distress	-	OMIM:617895
28981	IFT81	HP:0003388	Easy fatigability	36/76	OMIM:131300
28981	IFT81	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
28981	IFT81	HP:0003510	Severe short stature	7/7	OMIM:615777
28981	IFT81	HP:0002315	Headache	-	OMIM:131300
28981	IFT81	HP:0004976	Knee dislocation	6/7	OMIM:615777
28981	IFT81	HP:0009803	Short phalanx of finger	-	OMIM:615777
28981	IFT81	HP:0009763	Limb pain	63/92	OMIM:131300
28981	IFT81	HP:0003621	Juvenile onset	8/19	OMIM:180100
28981	IFT81	HP:0003621	Juvenile onset	-	OMIM:131300
28981	IFT81	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
28981	IFT81	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
28981	IFT81	HP:6001056	Out-toeing	-	OMIM:131300
28981	IFT81	HP:0000651	Diplopia	-	OMIM:131300
28981	IFT81	HP:0001956	Truncal obesity	2/7	OMIM:615777
28981	IFT81	HP:0001903	Anemia	HP:0040283	OMIM:131300
28981	IFT81	HP:0010049	Short metacarpal	-	OMIM:615777
28981	IFT81	HP:0000678	Dental crowding	-	OMIM:615777
28981	IFT81	HP:0000662	Nyctalopia	26/28	OMIM:180100
28981	IFT81	HP:0000670	Carious teeth	-	OMIM:131300
28981	IFT81	HP:0011304	Broad thumb	2/7	OMIM:615777
28981	IFT81	HP:0000668	Hypodontia	-	OMIM:615777
28981	IFT81	HP:0000664	Synophrys	-	OMIM:615777
28981	IFT81	HP:0004396	Poor appetite	-	OMIM:131300
28981	IFT81	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
28981	IFT81	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
28981	IFT81	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
28981	IFT81	HP:0003026	Short long bone	7/7	OMIM:615777
28981	IFT81	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
28981	IFT81	HP:0000767	Pectus excavatum	2/7	OMIM:615777
28981	IFT81	HP:0000768	Pectus carinatum	1/7	OMIM:615777
28981	IFT81	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
28981	IFT81	HP:0000750	Delayed speech and language development	-	OMIM:615777
28981	IFT81	HP:0011463	Childhood onset	3/19	OMIM:180100
28981	IFT81	HP:0011462	Young adult onset	8/19	OMIM:180100
28981	IFT81	HP:0011461	Fetal onset	7/7	OMIM:615777
28981	IFT81	HP:0000774	Narrow chest	-	OMIM:617895
28981	IFT81	HP:0000774	Narrow chest	2/7	OMIM:615777
28981	IFT81	HP:0000773	Short ribs	1/2	OMIM:617895
28981	IFT81	HP:0000926	Platyspondyly	1/7	OMIM:615777
28981	IFT81	HP:0003180	Flat acetabular roof	-	OMIM:615777
28981	IFT81	HP:0004482	Relative macrocephaly	2/2	OMIM:617895
28981	IFT81	HP:0004482	Relative macrocephaly	-	OMIM:615777
28981	IFT81	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
28981	IFT81	HP:0000888	Horizontal ribs	-	OMIM:617895
28981	IFT81	HP:0000823	Delayed puberty	-	OMIM:131300
28981	IFT81	HP:0000895	Lateral clavicle hook	-	OMIM:617895
28981	IFT81	HP:0000894	Short clavicles	-	OMIM:615777
28981	IFT81	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
28981	IFT81	HP:0100259	Postaxial polydactyly	1/2	OMIM:617895
28981	IFT81	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
28981	IFT81	HP:0000946	Hypoplastic ilia	-	OMIM:617895
28981	IFT81	HP:0000286	Epicanthus	1/7	OMIM:615777
28981	IFT81	HP:0000280	Coarse facial features	2/7	OMIM:615777
28981	IFT81	HP:0000268	Dolichocephaly	2/2	OMIM:617895
28981	IFT81	HP:0000269	Prominent occiput	2/2	OMIM:617895
28981	IFT81	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
28981	IFT81	HP:0002827	Hip dislocation	3/7	OMIM:615777
28981	IFT81	HP:0000252	Microcephaly	-	OMIM:615777
28981	IFT81	HP:0002878	Respiratory failure	-	OMIM:617895
28981	IFT81	HP:0002857	Genu valgum	-	OMIM:131300
28981	IFT81	HP:0001539	Omphalocele	-	OMIM:617895
28981	IFT81	HP:0001533	Slender build	-	OMIM:131300
28981	IFT81	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
28981	IFT81	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
28981	IFT81	HP:0007807	Optic nerve compression	-	OMIM:131300
28981	IFT81	HP:0012368	Flat face	7/7	OMIM:615777
28981	IFT81	HP:0005257	Thoracic hypoplasia	-	OMIM:617895
28981	IFT81	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
28981	IFT81	HP:0000365	Hearing impairment	10/67	OMIM:131300
28981	IFT81	HP:0000369	Low-set ears	1/2	OMIM:617895
28981	IFT81	HP:0000343	Long philtrum	1/2	OMIM:617895
28981	IFT81	HP:0000343	Long philtrum	1/7	OMIM:615777
28981	IFT81	HP:0011001	Increased bone mineral density	-	OMIM:131300
28981	IFT81	HP:0002983	Micromelia	1/2	OMIM:617895
28981	IFT81	HP:0000311	Round face	2/7	OMIM:615777
28981	IFT81	HP:0002984	Hypoplasia of the radius	-	OMIM:617895
28981	IFT81	HP:0001629	Ventricular septal defect	1/2	OMIM:617895
28981	IFT81	HP:0002970	Genu varum	-	OMIM:615777
28981	IFT81	HP:0000303	Mandibular prognathia	-	OMIM:131300
28981	IFT81	HP:0005280	Depressed nasal bridge	-	OMIM:617895
28981	IFT81	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
28981	IFT81	HP:0000470	Short neck	1/7	OMIM:615777
28981	IFT81	HP:0001769	Broad foot	HP:0040283	OMIM:615777
28981	IFT81	HP:0001763	Pes planus	1/7	OMIM:615777
28981	IFT81	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
28981	IFT81	HP:0001840	Metatarsus adductus	-	OMIM:615777
28981	IFT81	HP:0000520	Proptosis	-	OMIM:617895
28981	IFT81	HP:0000520	Proptosis	2/4	OMIM:131300
28981	IFT81	HP:0000520	Proptosis	7/7	OMIM:615777
28981	IFT81	HP:0000575	Scotoma	5/18	OMIM:180100
28981	IFT81	HP:0000592	Blue sclerae	2/7	OMIM:615777
28981	IFT81	HP:0011220	Prominent forehead	-	OMIM:617895
28981	IFT81	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
28981	IFT81	HP:0012514	Lower limb pain	4/4	OMIM:131300
28981	IFT81	HP:0000543	Optic disc pallor	1/1	OMIM:180100
28981	IFT81	HP:0000545	Myopia	-	OMIM:180100
28982	FLVCR1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
28982	FLVCR1	HP:0002460	Distal muscle weakness	-	OMIM:609033
28982	FLVCR1	HP:0010871	Sensory ataxia	-	OMIM:609033
28982	FLVCR1	HP:0002403	Positive Romberg sign	HP:0040283	ORPHA:88628
28982	FLVCR1	HP:0002403	Positive Romberg sign	-	OMIM:609033
28982	FLVCR1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:88628
28982	FLVCR1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:88628
28982	FLVCR1	HP:0001284	Areflexia	HP:0040283	ORPHA:88628
28982	FLVCR1	HP:0001284	Areflexia	14/14	OMIM:609033
28982	FLVCR1	HP:0001250	Seizure	HP:0040283	ORPHA:88628
28982	FLVCR1	HP:0001251	Ataxia	HP:0040281	ORPHA:88628
28982	FLVCR1	HP:0001251	Ataxia	10/14	OMIM:609033
28982	FLVCR1	HP:0002579	Gastrointestinal dysmotility	HP:0040283	ORPHA:88628
28982	FLVCR1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:88628
28982	FLVCR1	HP:0001249	Intellectual disability	HP:0040283	OMIM:609033
28982	FLVCR1	HP:0002571	Achalasia	-	OMIM:609033
28982	FLVCR1	HP:0000020	Urinary incontinence	-	OMIM:609033
28982	FLVCR1	HP:0000010	Recurrent urinary tract infections	-	OMIM:609033
28982	FLVCR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
28982	FLVCR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:609033
28982	FLVCR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
28982	FLVCR1	HP:0002650	Scoliosis	HP:0040283	ORPHA:88628
28982	FLVCR1	HP:0002650	Scoliosis	2/14	OMIM:609033
28982	FLVCR1	HP:0002607	Bowel incontinence	HP:0040284	ORPHA:88628
28982	FLVCR1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
28982	FLVCR1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
28982	FLVCR1	HP:0002754	Osteomyelitis	HP:0040283	ORPHA:88628
28982	FLVCR1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:88628
28982	FLVCR1	HP:0003394	Muscle spasm	HP:0040283	ORPHA:88628
28982	FLVCR1	HP:0040272	Hyperintensity of MRI T2 signal of the spinal cord	-	OMIM:609033
28982	FLVCR1	HP:0009473	Joint contracture of the hand	-	OMIM:609033
28982	FLVCR1	HP:0002143	Abnormal spinal cord morphology	HP:0040283	ORPHA:88628
28982	FLVCR1	HP:0003448	Decreased sensory nerve conduction velocity	-	OMIM:609033
28982	FLVCR1	HP:0002136	Broad-based gait	-	OMIM:609033
28982	FLVCR1	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:88628
28982	FLVCR1	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040281	ORPHA:88628
28982	FLVCR1	HP:0002166	Impaired vibration sensation in the lower limbs	-	OMIM:609033
28982	FLVCR1	HP:0003677	Slowly progressive	-	OMIM:609033
28982	FLVCR1	HP:0010831	Impaired proprioception	HP:0040281	ORPHA:88628
28982	FLVCR1	HP:0010831	Impaired proprioception	12/14	OMIM:609033
28982	FLVCR1	HP:0003621	Juvenile onset	8/19	OMIM:180100
28982	FLVCR1	HP:0030529	Ring scotoma	-	OMIM:609033
28982	FLVCR1	HP:0000648	Optic atrophy	-	OMIM:609033
28982	FLVCR1	HP:0000618	Blindness	-	OMIM:609033
28982	FLVCR1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:88628
28982	FLVCR1	HP:0000662	Nyctalopia	-	OMIM:609033
28982	FLVCR1	HP:0000662	Nyctalopia	26/28	OMIM:180100
28982	FLVCR1	HP:0031936	Delayed ability to walk	1/14	OMIM:609033
28982	FLVCR1	HP:0012785	Flexion contracture of finger	HP:0040283	ORPHA:88628
28982	FLVCR1	HP:0012785	Flexion contracture of finger	1/14	OMIM:609033
28982	FLVCR1	HP:0011463	Childhood onset	3/19	OMIM:180100
28982	FLVCR1	HP:0011463	Childhood onset	-	OMIM:609033
28982	FLVCR1	HP:0011462	Young adult onset	8/19	OMIM:180100
28982	FLVCR1	HP:0040078	Axonal degeneration	HP:0040282	ORPHA:88628
28982	FLVCR1	HP:0003202	Skeletal muscle atrophy	-	OMIM:609033
28982	FLVCR1	HP:0045010	Abnormal peripheral nerve morphology by anatomical site	HP:0040282	ORPHA:88628
28982	FLVCR1	HP:0040132	Abnormal sensory nerve conduction velocity	HP:0040283	ORPHA:88628
28982	FLVCR1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
28982	FLVCR1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:88628
28982	FLVCR1	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:609033
28982	FLVCR1	HP:0002808	Kyphosis	HP:0040283	ORPHA:88628
28982	FLVCR1	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:609033
28982	FLVCR1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
28982	FLVCR1	HP:0011096	Peripheral demyelination	-	OMIM:609033
28982	FLVCR1	HP:0012385	Camptodactyly	HP:0040283	ORPHA:88628
28982	FLVCR1	HP:0012385	Camptodactyly	1/14	OMIM:609033
28982	FLVCR1	HP:0030147	Truncal titubation	HP:0040283	ORPHA:88628
28982	FLVCR1	HP:0000518	Cataract	HP:0040283	ORPHA:88628
28982	FLVCR1	HP:0000518	Cataract	2/14	OMIM:609033
28982	FLVCR1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
28982	FLVCR1	HP:0000510	Rod-cone dystrophy	HP:0040282	ORPHA:88628
28982	FLVCR1	HP:0000510	Rod-cone dystrophy	14/14	OMIM:609033
28982	FLVCR1	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:88628
28982	FLVCR1	HP:0000580	Pigmentary retinopathy	-	OMIM:609033
28982	FLVCR1	HP:0000575	Scotoma	5/18	OMIM:180100
28982	FLVCR1	HP:0000572	Visual loss	HP:0040282	ORPHA:88628
28982	FLVCR1	HP:0012532	Chronic pain	HP:0040283	ORPHA:88628
28982	FLVCR1	HP:0000550	Undetectable electroretinogram	-	OMIM:609033
28982	FLVCR1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
28982	FLVCR1	HP:0000545	Myopia	-	OMIM:180100
28985	MCTS1	HP:0001263	Global developmental delay	0/7	OMIM:301115
28985	MCTS1	HP:0002754	Osteomyelitis	2/7	OMIM:301115
28985	MCTS1	HP:0001419	X-linked recessive inheritance	-	OMIM:301115
28985	MCTS1	HP:0002716	Lymphadenopathy	1/1	OMIM:301115
28985	MCTS1	HP:0003593	Infantile onset	4/5	OMIM:301115
28985	MCTS1	HP:0002240	Hepatomegaly	2/7	OMIM:301115
28985	MCTS1	HP:0020086	BCGitis	1/5	OMIM:301115
28985	MCTS1	HP:0020087	BCGosis	4/5	OMIM:301115
28985	MCTS1	HP:0001954	Recurrent fever	4/7	OMIM:301115
28985	MCTS1	HP:0004313	Decreased circulating immunoglobulin concentration	0/4	OMIM:301115
28985	MCTS1	HP:0011463	Childhood onset	1/5	OMIM:301115
28985	MCTS1	HP:0001744	Splenomegaly	2/7	OMIM:301115
29071	C1GALT1C1	HP:0001263	Global developmental delay	2/2	OMIM:301110
29071	C1GALT1C1	HP:0000093	Proteinuria	1/2	OMIM:301110
29071	C1GALT1C1	HP:0001442	Typified by somatic mosaicism	-	OMIM:300622
29071	C1GALT1C1	HP:0001419	X-linked recessive inheritance	-	OMIM:301110
29071	C1GALT1C1	HP:0002719	Recurrent infections	1/2	OMIM:301110
29071	C1GALT1C1	HP:0002714	Downturned corners of mouth	1/2	OMIM:301110
29071	C1GALT1C1	HP:0004798	Recurrent infection of the gastrointestinal tract	1/2	OMIM:301110
29071	C1GALT1C1	HP:0002197	Generalized-onset seizure	1/2	OMIM:301110
29071	C1GALT1C1	HP:0003498	Disproportionate short stature	1/2	OMIM:301110
29071	C1GALT1C1	HP:0004719	Hyperechogenic kidneys	1/1	OMIM:301110
29071	C1GALT1C1	HP:0003593	Infantile onset	2/2	OMIM:301110
29071	C1GALT1C1	HP:0020181	Reduced haptoglobin level	1/1	OMIM:301110
29071	C1GALT1C1	HP:0005575	Hemolytic-uremic syndrome	2/2	OMIM:301110
29071	C1GALT1C1	HP:0001981	Schistocytosis	2/2	OMIM:301110
29071	C1GALT1C1	HP:0001903	Anemia	1/2	OMIM:301110
29071	C1GALT1C1	HP:0003026	Short long bone	2/2	OMIM:301110
29071	C1GALT1C1	HP:0003259	Elevated circulating creatinine concentration	1/1	OMIM:301110
29071	C1GALT1C1	HP:0000278	Retrognathia	2/2	OMIM:301110
29071	C1GALT1C1	HP:0000358	Posteriorly rotated ears	1/2	OMIM:301110
29071	C1GALT1C1	HP:0000348	High forehead	2/2	OMIM:301110
29071	C1GALT1C1	HP:0000322	Short philtrum	1/2	OMIM:301110
29071	C1GALT1C1	HP:0002960	Autoimmunity	-	OMIM:300622
29071	C1GALT1C1	HP:0005272	Prominent nasolabial fold	2/2	OMIM:301110
29071	C1GALT1C1	HP:0000431	Wide nasal bridge	1/2	OMIM:301110
29071	C1GALT1C1	HP:0000527	Long eyelashes	1/1	OMIM:301110
29071	C1GALT1C1	HP:0012596	Moderate proteinuria	1/2	OMIM:301110
29071	C1GALT1C1	HP:0001888	Decreased total lymphocyte count	1/2	OMIM:301110
29071	C1GALT1C1	HP:0001882	Decreased total leukocyte count	1/2	OMIM:301110
29071	C1GALT1C1	HP:0001878	Hemolytic anemia	1/2	OMIM:301110
29071	C1GALT1C1	HP:0001877	Abnormal erythrocyte morphology	-	OMIM:300622
29071	C1GALT1C1	HP:0001873	Thrombocytopenia	2/2	OMIM:301110
29071	C1GALT1C1	HP:0001875	Decreased total neutrophil count	1/2	OMIM:301110
29072	SETD2	HP:0100962	Excessive shyness	-	OMIM:616831
29072	SETD2	HP:0009890	High anterior hairline	-	OMIM:616831
29072	SETD2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
29072	SETD2	HP:0001293	Cranial nerve compression	-	OMIM:131300
29072	SETD2	HP:0001290	Generalized hypotonia	-	OMIM:616831
29072	SETD2	HP:0001250	Seizure	7/12	OMIM:620155
29072	SETD2	HP:0001250	Seizure	-	OMIM:616831
29072	SETD2	HP:0001252	Hypotonia	12/12	OMIM:620155
29072	SETD2	HP:0001252	Hypotonia	2/7	OMIM:615777
29072	SETD2	HP:0001249	Intellectual disability	3/3	OMIM:620157
29072	SETD2	HP:0001249	Intellectual disability	12/12	OMIM:620155
29072	SETD2	HP:0001249	Intellectual disability	-	OMIM:616831
29072	SETD2	HP:0001249	Intellectual disability	5/7	OMIM:615777
29072	SETD2	HP:0002591	Polyphagia	-	OMIM:616831
29072	SETD2	HP:0001263	Global developmental delay	3/3	OMIM:620157
29072	SETD2	HP:0001263	Global developmental delay	12/12	OMIM:620155
29072	SETD2	HP:0001263	Global developmental delay	-	OMIM:616831
29072	SETD2	HP:0001263	Global developmental delay	-	OMIM:615777
29072	SETD2	HP:0002553	Highly arched eyebrow	0/3	OMIM:620157
29072	SETD2	HP:0002553	Highly arched eyebrow	11/12	OMIM:620155
29072	SETD2	HP:0002515	Waddling gait	54/102	OMIM:131300
29072	SETD2	HP:0001382	Joint hypermobility	-	OMIM:615777
29072	SETD2	HP:0001350	Slurred speech	-	OMIM:616831
29072	SETD2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
29072	SETD2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
29072	SETD2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
29072	SETD2	HP:0001324	Muscle weakness	40/96	OMIM:131300
29072	SETD2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
29072	SETD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
29072	SETD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:620157
29072	SETD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:620155
29072	SETD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
29072	SETD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616831
29072	SETD2	HP:0002650	Scoliosis	12/14	OMIM:131300
29072	SETD2	HP:0001321	Cerebellar hypoplasia	12/12	OMIM:620155
29072	SETD2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
29072	SETD2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
29072	SETD2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
29072	SETD2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
29072	SETD2	HP:0000175	Cleft palate	2/7	OMIM:615777
29072	SETD2	HP:0000147	Polycystic ovaries	-	OMIM:616831
29072	SETD2	HP:0012110	Hypoplasia of the pons	0/3	OMIM:620157
29072	SETD2	HP:0012110	Hypoplasia of the pons	8/12	OMIM:620155
29072	SETD2	HP:0002779	Tracheomalacia	2/12	OMIM:620155
29072	SETD2	HP:0002791	Hypoventilation	9/12	OMIM:620155
29072	SETD2	HP:0003396	Syringomyelia	-	OMIM:616831
29072	SETD2	HP:0002079	Hypoplasia of the corpus callosum	0/3	OMIM:620157
29072	SETD2	HP:0002079	Hypoplasia of the corpus callosum	9/12	OMIM:620155
29072	SETD2	HP:0003388	Easy fatigability	36/76	OMIM:131300
29072	SETD2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
29072	SETD2	HP:0002119	Ventriculomegaly	-	OMIM:616831
29072	SETD2	HP:0011968	Feeding difficulties	0/3	OMIM:620157
29072	SETD2	HP:0011968	Feeding difficulties	12/12	OMIM:620155
29072	SETD2	HP:0003510	Severe short stature	7/7	OMIM:615777
29072	SETD2	HP:0007099	Chiari type I malformation	0/3	OMIM:620157
29072	SETD2	HP:0007099	Chiari type I malformation	0/12	OMIM:620155
29072	SETD2	HP:0001007	Hirsutism	-	OMIM:616831
29072	SETD2	HP:0002315	Headache	-	OMIM:131300
29072	SETD2	HP:0004976	Knee dislocation	6/7	OMIM:615777
29072	SETD2	HP:0009803	Short phalanx of finger	-	OMIM:615777
29072	SETD2	HP:0009763	Limb pain	63/92	OMIM:131300
29072	SETD2	HP:0009765	Low hanging columella	0/3	OMIM:620157
29072	SETD2	HP:0009765	Low hanging columella	9/12	OMIM:620155
29072	SETD2	HP:0002308	Chiari malformation	-	OMIM:616831
29072	SETD2	HP:0003621	Juvenile onset	-	OMIM:131300
29072	SETD2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
29072	SETD2	HP:0004233	Advanced ossification of carpal bones	-	OMIM:616831
29072	SETD2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
29072	SETD2	HP:6001056	Out-toeing	-	OMIM:131300
29072	SETD2	HP:0000651	Diplopia	-	OMIM:131300
29072	SETD2	HP:0000629	Periorbital fullness	0/3	OMIM:620157
29072	SETD2	HP:0000629	Periorbital fullness	8/12	OMIM:620155
29072	SETD2	HP:0001956	Truncal obesity	2/7	OMIM:615777
29072	SETD2	HP:0000609	Optic nerve hypoplasia	0/3	OMIM:620157
29072	SETD2	HP:0000609	Optic nerve hypoplasia	3/10	OMIM:620155
29072	SETD2	HP:0001903	Anemia	HP:0040283	OMIM:131300
29072	SETD2	HP:0010049	Short metacarpal	-	OMIM:615777
29072	SETD2	HP:0000678	Dental crowding	-	OMIM:615777
29072	SETD2	HP:0000670	Carious teeth	-	OMIM:131300
29072	SETD2	HP:0011304	Broad thumb	2/7	OMIM:615777
29072	SETD2	HP:0000668	Hypodontia	-	OMIM:615777
29072	SETD2	HP:0000664	Synophrys	-	OMIM:615777
29072	SETD2	HP:0004322	Short stature	-	OMIM:616831
29072	SETD2	HP:0004396	Poor appetite	-	OMIM:131300
29072	SETD2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
29072	SETD2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
29072	SETD2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
29072	SETD2	HP:0003026	Short long bone	7/7	OMIM:615777
29072	SETD2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
29072	SETD2	HP:0012745	Short palpebral fissure	0/3	OMIM:620157
29072	SETD2	HP:0012745	Short palpebral fissure	8/12	OMIM:620155
29072	SETD2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
29072	SETD2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
29072	SETD2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
29072	SETD2	HP:0000739	Anxiety	-	OMIM:616831
29072	SETD2	HP:0000750	Delayed speech and language development	-	OMIM:616831
29072	SETD2	HP:0000750	Delayed speech and language development	-	OMIM:615777
29072	SETD2	HP:0000718	Aggressive behavior	-	OMIM:616831
29072	SETD2	HP:0000717	Autism	0/12	OMIM:620155
29072	SETD2	HP:0000729	Autistic behavior	-	OMIM:616831
29072	SETD2	HP:0011461	Fetal onset	7/7	OMIM:615777
29072	SETD2	HP:0000774	Narrow chest	2/7	OMIM:615777
29072	SETD2	HP:0000926	Platyspondyly	1/7	OMIM:615777
29072	SETD2	HP:0003189	Long nose	-	OMIM:616831
29072	SETD2	HP:0003180	Flat acetabular roof	-	OMIM:615777
29072	SETD2	HP:0004482	Relative macrocephaly	-	OMIM:615777
29072	SETD2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
29072	SETD2	HP:0000858	Irregular menstruation	-	OMIM:616831
29072	SETD2	HP:0000823	Delayed puberty	-	OMIM:131300
29072	SETD2	HP:0000894	Short clavicles	-	OMIM:615777
29072	SETD2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
29072	SETD2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
29072	SETD2	HP:0000286	Epicanthus	1/7	OMIM:615777
29072	SETD2	HP:0000280	Coarse facial features	2/7	OMIM:615777
29072	SETD2	HP:0000278	Retrognathia	2/3	OMIM:620157
29072	SETD2	HP:0000278	Retrognathia	0/12	OMIM:620155
29072	SETD2	HP:0000256	Macrocephaly	-	OMIM:616831
29072	SETD2	HP:0000276	Long face	0/3	OMIM:620157
29072	SETD2	HP:0000276	Long face	0/12	OMIM:620155
29072	SETD2	HP:0000276	Long face	-	OMIM:616831
29072	SETD2	HP:0000272	Malar flattening	1/3	OMIM:620157
29072	SETD2	HP:0000272	Malar flattening	0/12	OMIM:620155
29072	SETD2	HP:0000272	Malar flattening	-	OMIM:616831
29072	SETD2	HP:0007763	Retinal telangiectasia	0/3	OMIM:620157
29072	SETD2	HP:0007763	Retinal telangiectasia	8/10	OMIM:620155
29072	SETD2	HP:0002827	Hip dislocation	3/7	OMIM:615777
29072	SETD2	HP:0000238	Hydrocephalus	0/3	OMIM:620157
29072	SETD2	HP:0000238	Hydrocephalus	0/12	OMIM:620155
29072	SETD2	HP:0000252	Microcephaly	0/3	OMIM:620157
29072	SETD2	HP:0000252	Microcephaly	12/12	OMIM:620155
29072	SETD2	HP:0000252	Microcephaly	-	OMIM:615777
29072	SETD2	HP:0001548	Overgrowth	0/3	OMIM:620157
29072	SETD2	HP:0001548	Overgrowth	0/12	OMIM:620155
29072	SETD2	HP:0001548	Overgrowth	-	OMIM:616831
29072	SETD2	HP:0001531	Failure to thrive in infancy	12/12	OMIM:620155
29072	SETD2	HP:0002857	Genu valgum	-	OMIM:131300
29072	SETD2	HP:0001533	Slender build	-	OMIM:131300
29072	SETD2	HP:0001508	Failure to thrive	0/3	OMIM:620157
29072	SETD2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
29072	SETD2	HP:0001513	Obesity	0/12	OMIM:620155
29072	SETD2	HP:0001513	Obesity	-	OMIM:616831
29072	SETD2	HP:0007807	Optic nerve compression	-	OMIM:131300
29072	SETD2	HP:0012368	Flat face	7/7	OMIM:615777
29072	SETD2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
29072	SETD2	HP:0002902	Hyponatremia	0/3	OMIM:620157
29072	SETD2	HP:0002902	Hyponatremia	8/12	OMIM:620155
29072	SETD2	HP:0000365	Hearing impairment	0/3	OMIM:620157
29072	SETD2	HP:0000365	Hearing impairment	10/67	OMIM:131300
29072	SETD2	HP:0000343	Long philtrum	1/7	OMIM:615777
29072	SETD2	HP:0011001	Increased bone mineral density	-	OMIM:131300
29072	SETD2	HP:0000348	High forehead	-	OMIM:616831
29072	SETD2	HP:0000347	Micrognathia	0/3	OMIM:620157
29072	SETD2	HP:0000347	Micrognathia	12/12	OMIM:620155
29072	SETD2	HP:0000316	Hypertelorism	0/3	OMIM:620157
29072	SETD2	HP:0000316	Hypertelorism	12/12	OMIM:620155
29072	SETD2	HP:0000311	Round face	2/7	OMIM:615777
29072	SETD2	HP:0000327	Hypoplasia of the maxilla	0/3	OMIM:620157
29072	SETD2	HP:0002970	Genu varum	-	OMIM:615777
29072	SETD2	HP:0000307	Pointed chin	1/3	OMIM:620157
29072	SETD2	HP:0000307	Pointed chin	0/12	OMIM:620155
29072	SETD2	HP:0000307	Pointed chin	-	OMIM:616831
29072	SETD2	HP:0000303	Mandibular prognathia	0/3	OMIM:620157
29072	SETD2	HP:0000303	Mandibular prognathia	0/12	OMIM:620155
29072	SETD2	HP:0000303	Mandibular prognathia	-	OMIM:131300
29072	SETD2	HP:0000303	Mandibular prognathia	-	OMIM:616831
29072	SETD2	HP:0000407	Sensorineural hearing impairment	6/8	OMIM:620155
29072	SETD2	HP:0000403	Recurrent otitis media	-	OMIM:616831
29072	SETD2	HP:0000405	Conductive hearing impairment	7/8	OMIM:620155
29072	SETD2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
29072	SETD2	HP:0000494	Downslanted palpebral fissures	0/3	OMIM:620157
29072	SETD2	HP:0000494	Downslanted palpebral fissures	0/7	OMIM:620155
29072	SETD2	HP:0000494	Downslanted palpebral fissures	-	OMIM:616831
29072	SETD2	HP:0000455	Broad nasal tip	1/3	OMIM:620157
29072	SETD2	HP:0000455	Broad nasal tip	9/12	OMIM:620155
29072	SETD2	HP:0000470	Short neck	1/7	OMIM:615777
29072	SETD2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
29072	SETD2	HP:0001763	Pes planus	1/7	OMIM:615777
29072	SETD2	HP:0000431	Wide nasal bridge	0/3	OMIM:620157
29072	SETD2	HP:0000431	Wide nasal bridge	9/12	OMIM:620155
29072	SETD2	HP:0005490	Postnatal macrocephaly	0/3	OMIM:620157
29072	SETD2	HP:0005490	Postnatal macrocephaly	0/12	OMIM:620155
29072	SETD2	HP:0000518	Cataract	0/3	OMIM:620157
29072	SETD2	HP:0000518	Cataract	2/12	OMIM:620155
29072	SETD2	HP:0001840	Metatarsus adductus	-	OMIM:615777
29072	SETD2	HP:0000520	Proptosis	2/4	OMIM:131300
29072	SETD2	HP:0000520	Proptosis	7/7	OMIM:615777
29072	SETD2	HP:0001833	Long foot	-	OMIM:616831
29072	SETD2	HP:0000582	Upslanted palpebral fissure	1/3	OMIM:620157
29072	SETD2	HP:0000582	Upslanted palpebral fissure	5/7	OMIM:620155
29072	SETD2	HP:0000592	Blue sclerae	2/7	OMIM:615777
29072	SETD2	HP:0011220	Prominent forehead	-	OMIM:616831
29072	SETD2	HP:0000541	Retinal detachment	0/3	OMIM:620157
29072	SETD2	HP:0000541	Retinal detachment	5/10	OMIM:620155
29072	SETD2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
29072	SETD2	HP:0012514	Lower limb pain	4/4	OMIM:131300
29078	NDUFAF4	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
29078	NDUFAF4	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0007305	CNS demyelination	1/1	OMIM:618237
29078	NDUFAF4	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0001298	Encephalopathy	6/6	OMIM:618237
29078	NDUFAF4	HP:0001290	Generalized hypotonia	5/5	OMIM:618237
29078	NDUFAF4	HP:0001272	Cerebellar atrophy	1/1	OMIM:618237
29078	NDUFAF4	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0002510	Spastic tetraplegia	-	OMIM:618237
29078	NDUFAF4	HP:0003811	Neonatal death	3/9	OMIM:618237
29078	NDUFAF4	HP:0001371	Flexion contracture	-	OMIM:618237
29078	NDUFAF4	HP:0001347	Hyperreflexia	-	OMIM:618237
29078	NDUFAF4	HP:0001332	Dystonia	5/5	OMIM:618237
29078	NDUFAF4	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0000007	Autosomal recessive inheritance	-	OMIM:618237
29078	NDUFAF4	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0002069	Bilateral tonic-clonic seizure	2/5	OMIM:618237
29078	NDUFAF4	HP:0002151	Increased circulating lactate concentration	9/9	OMIM:618237
29078	NDUFAF4	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
29078	NDUFAF4	HP:0011923	Decreased activity of mitochondrial complex I	4/4	OMIM:618237
29078	NDUFAF4	HP:0003577	Congenital onset	9/9	OMIM:618237
29078	NDUFAF4	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
29078	NDUFAF4	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0000639	Nystagmus	5/5	OMIM:618237
29078	NDUFAF4	HP:0000648	Optic atrophy	-	OMIM:618237
29078	NDUFAF4	HP:0000618	Blindness	HP:0040283	ORPHA:2609
29078	NDUFAF4	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0001942	Metabolic acidosis	9/9	OMIM:618237
29078	NDUFAF4	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0000737	Irritability	-	OMIM:618237
29078	NDUFAF4	HP:0003198	Myopathy	-	OMIM:618237
29078	NDUFAF4	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
29078	NDUFAF4	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0000817	Reduced eye contact	5/5	OMIM:618237
29078	NDUFAF4	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0002808	Kyphosis	-	OMIM:618237
29078	NDUFAF4	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
29078	NDUFAF4	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0001508	Failure to thrive	-	OMIM:618237
29078	NDUFAF4	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0001511	Intrauterine growth retardation	-	OMIM:618237
29078	NDUFAF4	HP:0000365	Hearing impairment	-	OMIM:618237
29078	NDUFAF4	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0001639	Hypertrophic cardiomyopathy	1/6	OMIM:618237
29078	NDUFAF4	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
29078	NDUFAF4	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
29081	METTL5	HP:0010864	Intellectual disability, severe	7/7	OMIM:618665
29081	METTL5	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
29081	METTL5	HP:0001290	Generalized hypotonia	1/5	OMIM:618665
29081	METTL5	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
29081	METTL5	HP:0001250	Seizure	1/7	OMIM:618665
29081	METTL5	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
29081	METTL5	HP:0001257	Spasticity	2/5	OMIM:618665
29081	METTL5	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
29081	METTL5	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
29081	METTL5	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
29081	METTL5	HP:0000007	Autosomal recessive inheritance	-	OMIM:618665
29081	METTL5	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
29081	METTL5	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
29081	METTL5	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
29081	METTL5	HP:0011833	Overhanging nasal tip	2/7	OMIM:618665
29081	METTL5	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
29081	METTL5	HP:0007018	Attention deficit hyperactivity disorder	3/7	OMIM:618665
29081	METTL5	HP:0004325	Decreased body weight	3/5	OMIM:618665
29081	METTL5	HP:0004322	Short stature	HP:0040281	ORPHA:2512
29081	METTL5	HP:0000750	Delayed speech and language development	6/6	OMIM:618665
29081	METTL5	HP:0000718	Aggressive behavior	4/7	OMIM:618665
29081	METTL5	HP:0000729	Autistic behavior	2/7	OMIM:618665
29081	METTL5	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
29081	METTL5	HP:0012811	Wide nasal ridge	2/7	OMIM:618665
29081	METTL5	HP:0012810	Wide nasal base	1/7	OMIM:618665
29081	METTL5	HP:0012809	Narrow nasal base	2/7	OMIM:618665
29081	METTL5	HP:0000252	Microcephaly	7/7	OMIM:618665
29081	METTL5	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
29081	METTL5	HP:0000219	Thin upper lip vermilion	2/7	OMIM:618665
29081	METTL5	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
29081	METTL5	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
29081	METTL5	HP:0000358	Posteriorly rotated ears	2/7	OMIM:618665
29081	METTL5	HP:0000369	Low-set ears	2/7	OMIM:618665
29081	METTL5	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
29081	METTL5	HP:0000343	Long philtrum	2/7	OMIM:618665
29081	METTL5	HP:0001684	Secundum atrial septal defect	1/7	OMIM:618665
29081	METTL5	HP:0000400	Macrotia	3/7	OMIM:618665
29081	METTL5	HP:0000486	Strabismus	2/7	OMIM:618665
29081	METTL5	HP:0000455	Broad nasal tip	2/7	OMIM:618665
29081	METTL5	HP:0000448	Prominent nose	2/7	OMIM:618665
29081	METTL5	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
29089	UBE2T	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
29089	UBE2T	HP:0009942	Duplication of thumb phalanx	1/2	OMIM:616435
29089	UBE2T	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
29089	UBE2T	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
29089	UBE2T	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
29089	UBE2T	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
29089	UBE2T	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
29089	UBE2T	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
29089	UBE2T	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
29089	UBE2T	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
29089	UBE2T	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
29089	UBE2T	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
29089	UBE2T	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
29089	UBE2T	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
29089	UBE2T	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000007	Autosomal recessive inheritance	-	OMIM:616435
29089	UBE2T	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
29089	UBE2T	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
29089	UBE2T	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
29089	UBE2T	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
29089	UBE2T	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
29089	UBE2T	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
29089	UBE2T	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
29089	UBE2T	HP:0010469	Absent testis	HP:0040283	ORPHA:84
29089	UBE2T	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
29089	UBE2T	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
29089	UBE2T	HP:0003577	Congenital onset	2/2	OMIM:616435
29089	UBE2T	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
29089	UBE2T	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
29089	UBE2T	HP:0010628	Facial palsy	1/2	OMIM:616435
29089	UBE2T	HP:0004808	Acute myeloid leukemia	1/2	OMIM:616435
29089	UBE2T	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
29089	UBE2T	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
29089	UBE2T	HP:0009778	Short thumb	1/2	OMIM:616435
29089	UBE2T	HP:0005528	Bone marrow hypocellularity	-	OMIM:616435
29089	UBE2T	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
29089	UBE2T	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
29089	UBE2T	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001903	Anemia	HP:0040281	ORPHA:84
29089	UBE2T	HP:0001903	Anemia	2/2	OMIM:616435
29089	UBE2T	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
29089	UBE2T	HP:0004322	Short stature	HP:0040281	ORPHA:84
29089	UBE2T	HP:0004322	Short stature	1/2	OMIM:616435
29089	UBE2T	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
29089	UBE2T	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
29089	UBE2T	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
29089	UBE2T	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
29089	UBE2T	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
29089	UBE2T	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
29089	UBE2T	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
29089	UBE2T	HP:0003221	Chromosomal breakage induced by crosslinking agents	2/2	OMIM:616435
29089	UBE2T	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
29089	UBE2T	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
29089	UBE2T	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
29089	UBE2T	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
29089	UBE2T	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
29089	UBE2T	HP:0000218	High palate	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
29089	UBE2T	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001510	Growth delay	HP:0040283	ORPHA:84
29089	UBE2T	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
29089	UBE2T	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
29089	UBE2T	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
29089	UBE2T	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000365	Hearing impairment	1/2	OMIM:616435
29089	UBE2T	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
29089	UBE2T	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
29089	UBE2T	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000486	Strabismus	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001763	Pes planus	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000518	Cataract	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000520	Proptosis	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001824	Weight loss	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000508	Ptosis	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
29089	UBE2T	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
29089	UBE2T	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
29089	UBE2T	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
29089	UBE2T	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
29089	UBE2T	HP:0001873	Thrombocytopenia	2/2	OMIM:616435
29089	UBE2T	HP:0001876	Pancytopenia	1/2	OMIM:616435
29098	RANGRF	HP:0001279	Syncope	HP:0040282	ORPHA:130
29098	RANGRF	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
29098	RANGRF	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
29098	RANGRF	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
29098	RANGRF	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
29098	RANGRF	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
29098	RANGRF	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
29098	RANGRF	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
29098	RANGRF	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
29098	RANGRF	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
29098	RANGRF	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
29098	RANGRF	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
29098	RANGRF	HP:0001664	Torsade de pointes	1/46	OMIM:115000
29098	RANGRF	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
29098	RANGRF	HP:0001645	Sudden cardiac death	-	OMIM:115000
29098	RANGRF	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
29098	RANGRF	HP:0001663	Ventricular fibrillation	-	OMIM:115000
29098	RANGRF	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
29098	RANGRF	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
29110	TBK1	HP:0025143	Chills	HP:0040283	ORPHA:1930
29110	TBK1	HP:0002463	Language impairment	HP:0040283	ORPHA:803
29110	TBK1	HP:0002463	Language impairment	-	OMIM:616439
29110	TBK1	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:275872
29110	TBK1	HP:0002442	Dyscalculia	HP:0040282	ORPHA:275872
29110	TBK1	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:275872
29110	TBK1	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:275872
29110	TBK1	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:275872
29110	TBK1	HP:0001270	Motor delay	1/1	OMIM:620880
29110	TBK1	HP:0001269	Hemiparesis	-	OMIM:617900
29110	TBK1	HP:0001268	Mental deterioration	-	OMIM:617900
29110	TBK1	HP:0001287	Meningitis	-	OMIM:617900
29110	TBK1	HP:0001289	Confusion	-	OMIM:617900
29110	TBK1	HP:0001283	Bulbar palsy	HP:0040283	ORPHA:275872
29110	TBK1	HP:0001283	Bulbar palsy	-	OMIM:616439
29110	TBK1	HP:0001254	Lethargy	-	OMIM:617900
29110	TBK1	HP:0001256	Intellectual disability, mild	2/4	OMIM:620880
29110	TBK1	HP:0001250	Seizure	HP:0040282	ORPHA:1930
29110	TBK1	HP:0001250	Seizure	3/3	OMIM:620880
29110	TBK1	HP:0001250	Seizure	-	OMIM:617900
29110	TBK1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:275872
29110	TBK1	HP:0001265	Hyporeflexia	-	OMIM:616439
29110	TBK1	HP:0001260	Dysarthria	HP:0040282	ORPHA:275872
29110	TBK1	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
29110	TBK1	HP:0001260	Dysarthria	-	OMIM:616439
29110	TBK1	HP:0001263	Global developmental delay	2/4	OMIM:620880
29110	TBK1	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:1930
29110	TBK1	HP:0001257	Spasticity	HP:0040282	ORPHA:803
29110	TBK1	HP:0001259	Coma	HP:0040283	ORPHA:1930
29110	TBK1	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
29110	TBK1	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
29110	TBK1	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:616439
29110	TBK1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
29110	TBK1	HP:0003829	Typified by incomplete penetrance	-	OMIM:617900
29110	TBK1	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
29110	TBK1	HP:0001369	Arthritis	3/3	OMIM:620880
29110	TBK1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:1930
29110	TBK1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
29110	TBK1	HP:0001347	Hyperreflexia	-	OMIM:616439
29110	TBK1	HP:0008873	Disproportionate short-limb short stature	2/2	OMIM:620880
29110	TBK1	HP:0031179	Nuchal rigidity	HP:0040282	ORPHA:1930
29110	TBK1	HP:0001324	Muscle weakness	-	OMIM:616439
29110	TBK1	HP:0000010	Recurrent urinary tract infections	1/1	OMIM:620880
29110	TBK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620880
29110	TBK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616439
29110	TBK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617900
29110	TBK1	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
29110	TBK1	HP:0002633	Vasculitis	1/3	OMIM:620880
29110	TBK1	HP:0001300	Parkinsonism	HP:0040282	ORPHA:275872
29110	TBK1	HP:0002608	Celiac disease	1/4	OMIM:620880
29110	TBK1	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
29110	TBK1	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
29110	TBK1	HP:0000100	Nephrotic syndrome	1/1	OMIM:620880
29110	TBK1	HP:0002754	Osteomyelitis	1/1	OMIM:620880
29110	TBK1	HP:0002716	Lymphadenopathy	1/2	OMIM:620880
29110	TBK1	HP:0002721	Immunodeficiency	0/4	OMIM:620880
29110	TBK1	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:1930
29110	TBK1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:1930
29110	TBK1	HP:0002027	Abdominal pain	1/4	OMIM:620880
29110	TBK1	HP:0002015	Dysphagia	HP:0040282	ORPHA:275872
29110	TBK1	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
29110	TBK1	HP:0002015	Dysphagia	-	OMIM:616439
29110	TBK1	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
29110	TBK1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
29110	TBK1	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
29110	TBK1	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
29110	TBK1	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:275872
29110	TBK1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:275872
29110	TBK1	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
29110	TBK1	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:1930
29110	TBK1	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:275872
29110	TBK1	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
29110	TBK1	HP:0002145	Frontotemporal dementia	-	OMIM:616439
29110	TBK1	HP:0003470	Paralysis	HP:0040282	ORPHA:803
29110	TBK1	HP:0003487	Babinski sign	HP:0040283	ORPHA:275872
29110	TBK1	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
29110	TBK1	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
29110	TBK1	HP:0002120	Cerebral cortical atrophy	-	OMIM:616439
29110	TBK1	HP:0002119	Ventriculomegaly	1/1	OMIM:620880
29110	TBK1	HP:0002133	Status epilepticus	1/4	OMIM:620880
29110	TBK1	HP:0002133	Status epilepticus	HP:0040283	ORPHA:1930
29110	TBK1	HP:0002127	Abnormal upper motor neuron morphology	HP:0040281	ORPHA:275872
29110	TBK1	HP:0002186	Apraxia	HP:0040282	ORPHA:275872
29110	TBK1	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
29110	TBK1	HP:0002181	Cerebral edema	HP:0040283	ORPHA:1930
29110	TBK1	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:1930
29110	TBK1	HP:0002171	Gliosis	HP:0040282	ORPHA:275872
29110	TBK1	HP:0011897	Increased total neutrophil count	HP:0040282	ORPHA:1930
29110	TBK1	HP:0010549	Weakness due to upper motor neuron dysfunction	HP:0040282	ORPHA:275872
29110	TBK1	HP:0003596	Middle age onset	1/1	OMIM:617900
29110	TBK1	HP:0003593	Infantile onset	4/4	OMIM:620880
29110	TBK1	HP:0003593	Infantile onset	1/2	OMIM:617900
29110	TBK1	HP:0002273	Tetraparesis	HP:0040282	ORPHA:275872
29110	TBK1	HP:0003581	Adult onset	-	OMIM:616439
29110	TBK1	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040282	ORPHA:1930
29110	TBK1	HP:0200149	CSF lymphocytic pleiocytosis	HP:0040281	ORPHA:1930
29110	TBK1	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:275872
29110	TBK1	HP:0011972	Hypoglycorrhachia	HP:0040283	ORPHA:1930
29110	TBK1	HP:0011968	Feeding difficulties	2/4	OMIM:620880
29110	TBK1	HP:0008322	Abnormal mitochondrial morphology	HP:0040283	ORPHA:275872
29110	TBK1	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:1930
29110	TBK1	HP:0002385	Paraparesis	HP:0040282	ORPHA:275872
29110	TBK1	HP:0002380	Fasciculations	HP:0040283	ORPHA:275872
29110	TBK1	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
29110	TBK1	HP:0002380	Fasciculations	-	OMIM:616439
29110	TBK1	HP:0002366	Abnormal lower motor neuron morphology	-	OMIM:616439
29110	TBK1	HP:0002366	Abnormal lower motor neuron morphology	HP:0040281	ORPHA:275872
29110	TBK1	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
29110	TBK1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
29110	TBK1	HP:0003676	Progressive	-	OMIM:616439
29110	TBK1	HP:0002353	EEG abnormality	-	OMIM:617900
29110	TBK1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1930
29110	TBK1	HP:0002349	Focal aware seizure	HP:0040283	ORPHA:1930
29110	TBK1	HP:0002315	Headache	HP:0040282	ORPHA:1930
29110	TBK1	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
29110	TBK1	HP:0002314	Degeneration of the lateral corticospinal tracts	HP:0040282	ORPHA:275872
29110	TBK1	HP:0200029	Vasculitis in the skin	1/1	OMIM:620880
29110	TBK1	HP:0034786	Leukocytoclastic vasculitis	1/1	OMIM:620880
29110	TBK1	HP:0002300	Mutism	HP:0040283	ORPHA:275872
29110	TBK1	HP:0002300	Mutism	-	OMIM:616439
29110	TBK1	HP:0002307	Drooling	HP:0040282	ORPHA:803
29110	TBK1	HP:0003621	Juvenile onset	1/2	OMIM:617900
29110	TBK1	HP:0007190	Neuronal loss in the cerebral cortex	HP:0040282	ORPHA:275872
29110	TBK1	HP:0007185	Loss of consciousness	HP:0040282	ORPHA:1930
29110	TBK1	HP:4000054	Exanthem	1/1	OMIM:620880
29110	TBK1	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:1930
29110	TBK1	HP:0001945	Fever	HP:0040282	ORPHA:1930
29110	TBK1	HP:0001954	Recurrent fever	3/4	OMIM:620880
29110	TBK1	HP:0000605	Supranuclear gaze palsy	HP:0040283	ORPHA:275872
29110	TBK1	HP:0001935	Microcytic anemia	3/4	OMIM:620880
29110	TBK1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
29110	TBK1	HP:0004322	Short stature	1/2	OMIM:620880
29110	TBK1	HP:0004326	Cachexia	HP:0040283	ORPHA:803
29110	TBK1	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:1930
29110	TBK1	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
29110	TBK1	HP:0004372	Reduced consciousness	HP:0040281	ORPHA:1930
29110	TBK1	HP:0000751	Personality changes	-	OMIM:616439
29110	TBK1	HP:0000738	Hallucinations	HP:0040282	ORPHA:275872
29110	TBK1	HP:0000739	Anxiety	HP:0040282	ORPHA:803
29110	TBK1	HP:0000734	Disinhibition	HP:0040283	ORPHA:275872
29110	TBK1	HP:0000734	Disinhibition	-	OMIM:616439
29110	TBK1	HP:0000750	Delayed speech and language development	0/1	OMIM:620880
29110	TBK1	HP:0000741	Apathy	HP:0040282	ORPHA:275872
29110	TBK1	HP:0000741	Apathy	-	OMIM:616439
29110	TBK1	HP:0000716	Depression	HP:0040282	ORPHA:275872
29110	TBK1	HP:0000716	Depression	HP:0040282	ORPHA:803
29110	TBK1	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
29110	TBK1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:275872
29110	TBK1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
29110	TBK1	HP:0011473	Villous atrophy	1/2	OMIM:620880
29110	TBK1	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
29110	TBK1	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
29110	TBK1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
29110	TBK1	HP:0003202	Skeletal muscle atrophy	-	OMIM:616439
29110	TBK1	HP:0003271	Visceromegaly	0/4	OMIM:620880
29110	TBK1	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
29110	TBK1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
29110	TBK1	HP:0012378	Fatigue	HP:0040282	ORPHA:803
29110	TBK1	HP:0012378	Fatigue	HP:0040282	ORPHA:1930
29110	TBK1	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
29110	TBK1	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
29110	TBK1	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
29110	TBK1	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
29110	TBK1	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:1930
29110	TBK1	HP:0002902	Hyponatremia	HP:0040282	ORPHA:1930
29110	TBK1	HP:0012302	Herpes simplex encephalitis	3/3	OMIM:617900
29110	TBK1	HP:0012302	Herpes simplex encephalitis	0/1	OMIM:620880
29110	TBK1	HP:0002960	Autoimmunity	4/4	OMIM:620880
29110	TBK1	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
29110	TBK1	HP:0030223	Perseverative thought	HP:0040283	ORPHA:275872
29110	TBK1	HP:0012444	Brain atrophy	0/1	OMIM:620880
29110	TBK1	HP:0011123	Inflammatory abnormality of the skin	1/1	OMIM:620880
29110	TBK1	HP:0011108	Recurrent sinusitis	1/1	OMIM:620880
29110	TBK1	HP:0012443	Abnormal brain morphology	HP:0040281	ORPHA:1930
29110	TBK1	HP:0011110	Recurrent tonsillitis	2/4	OMIM:620880
29110	TBK1	HP:0025722	Cerebral infarct	1/1	OMIM:620880
29110	TBK1	HP:0001824	Weight loss	HP:0040282	ORPHA:803
29110	TBK1	HP:0000509	Conjunctivitis	1/4	OMIM:620880
29110	TBK1	HP:0000508	Ptosis	HP:0040284	ORPHA:275872
29110	TBK1	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040283	ORPHA:1930
29110	TBK1	HP:0001894	Thrombocytosis	1/4	OMIM:620880
29110	TBK1	HP:0012531	Pain	HP:0040282	ORPHA:803
29119	CTNNA3	HP:0000006	Autosomal dominant inheritance	-	OMIM:615616
29119	CTNNA3	HP:0011713	Left bundle branch block	2/5	OMIM:615616
29119	CTNNA3	HP:0011705	First degree atrioventricular block	1/5	OMIM:615616
29119	CTNNA3	HP:0004756	Ventricular tachycardia	2/5	OMIM:615616
29119	CTNNA3	HP:0003621	Juvenile onset	2/2	OMIM:615616
29119	CTNNA3	HP:0005133	Right ventricular dilatation	2/5	OMIM:615616
29123	ANKRD11	HP:0001159	Syndactyly	-	OMIM:148050
29123	ANKRD11	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
29123	ANKRD11	HP:0001293	Cranial nerve compression	-	OMIM:131300
29123	ANKRD11	HP:0001250	Seizure	HP:0040283	ORPHA:2332
29123	ANKRD11	HP:0001250	Seizure	HP:0040282	ORPHA:261250
29123	ANKRD11	HP:0001250	Seizure	HP:0040283	OMIM:148050
29123	ANKRD11	HP:0001252	Hypotonia	2/7	OMIM:615777
29123	ANKRD11	HP:0001249	Intellectual disability	7/7	OMIM:148050
29123	ANKRD11	HP:0001249	Intellectual disability	5/7	OMIM:615777
29123	ANKRD11	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0001263	Global developmental delay	-	OMIM:148050
29123	ANKRD11	HP:0001263	Global developmental delay	-	OMIM:615777
29123	ANKRD11	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0002515	Waddling gait	54/102	OMIM:131300
29123	ANKRD11	HP:0000039	Epispadias	1/7	OMIM:148050
29123	ANKRD11	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0001382	Joint hypermobility	-	OMIM:615777
29123	ANKRD11	HP:0002694	Sclerosis of skull base	-	OMIM:131300
29123	ANKRD11	HP:0000028	Cryptorchidism	6/7	OMIM:148050
29123	ANKRD11	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0008897	Postnatal growth retardation	-	OMIM:615777
29123	ANKRD11	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
29123	ANKRD11	HP:0001324	Muscle weakness	40/96	OMIM:131300
29123	ANKRD11	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
29123	ANKRD11	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
29123	ANKRD11	HP:0000006	Autosomal dominant inheritance	-	OMIM:148050
29123	ANKRD11	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
29123	ANKRD11	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
29123	ANKRD11	HP:0002650	Scoliosis	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0002650	Scoliosis	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0002650	Scoliosis	12/14	OMIM:131300
29123	ANKRD11	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
29123	ANKRD11	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
29123	ANKRD11	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
29123	ANKRD11	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
29123	ANKRD11	HP:0000175	Cleft palate	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000175	Cleft palate	2/7	OMIM:615777
29123	ANKRD11	HP:0000154	Wide mouth	HP:0040282	ORPHA:261250
29123	ANKRD11	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0002750	Delayed skeletal maturation	4/4	OMIM:148050
29123	ANKRD11	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0002015	Dysphagia	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0002007	Frontal bossing	HP:0040282	ORPHA:261250
29123	ANKRD11	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:261250
29123	ANKRD11	HP:0003388	Easy fatigability	36/76	OMIM:131300
29123	ANKRD11	HP:0009464	Ulnar deviation of the 2nd finger	2/7	OMIM:148050
29123	ANKRD11	HP:0009466	Radial deviation of finger	-	OMIM:148050
29123	ANKRD11	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
29123	ANKRD11	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:261250
29123	ANKRD11	HP:0009623	Proximal placement of thumb	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0002162	Low posterior hairline	6/7	OMIM:148050
29123	ANKRD11	HP:0011842	Abnormal skeletal morphology	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0010720	Abnormal hair pattern	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0010720	Abnormal hair pattern	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0007018	Attention deficit hyperactivity disorder	1/7	OMIM:148050
29123	ANKRD11	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0003510	Severe short stature	7/7	OMIM:615777
29123	ANKRD11	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:261250
29123	ANKRD11	HP:0002353	EEG abnormality	HP:0040283	ORPHA:2332
29123	ANKRD11	HP:0002315	Headache	-	OMIM:131300
29123	ANKRD11	HP:0004976	Knee dislocation	6/7	OMIM:615777
29123	ANKRD11	HP:0008513	Bilateral conductive hearing impairment	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0010804	Tented upper lip vermilion	1/7	OMIM:148050
29123	ANKRD11	HP:0009803	Short phalanx of finger	-	OMIM:615777
29123	ANKRD11	HP:0007165	Periventricular heterotopia	HP:0040282	ORPHA:261250
29123	ANKRD11	HP:0009763	Limb pain	63/92	OMIM:131300
29123	ANKRD11	HP:0008438	Vertebral arch anomaly	-	OMIM:148050
29123	ANKRD11	HP:0003621	Juvenile onset	-	OMIM:131300
29123	ANKRD11	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
29123	ANKRD11	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
29123	ANKRD11	HP:0004209	Clinodactyly of the 5th finger	7/7	OMIM:148050
29123	ANKRD11	HP:0005518	Increased mean corpuscular volume	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0004279	Short palm	7/7	OMIM:148050
29123	ANKRD11	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
29123	ANKRD11	HP:0000639	Nystagmus	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000637	Long palpebral fissure	6/7	OMIM:148050
29123	ANKRD11	HP:6001056	Out-toeing	-	OMIM:131300
29123	ANKRD11	HP:0000651	Diplopia	-	OMIM:131300
29123	ANKRD11	HP:0001956	Truncal obesity	2/7	OMIM:615777
29123	ANKRD11	HP:0000609	Optic nerve hypoplasia	HP:0040282	ORPHA:261250
29123	ANKRD11	HP:0001903	Anemia	HP:0040283	OMIM:131300
29123	ANKRD11	HP:0010049	Short metacarpal	-	OMIM:615777
29123	ANKRD11	HP:0000678	Dental crowding	-	OMIM:615777
29123	ANKRD11	HP:0000677	Oligodontia	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000677	Oligodontia	-	OMIM:148050
29123	ANKRD11	HP:0000670	Carious teeth	-	OMIM:131300
29123	ANKRD11	HP:0011304	Broad thumb	2/7	OMIM:615777
29123	ANKRD11	HP:0000668	Hypodontia	-	OMIM:615777
29123	ANKRD11	HP:0000664	Synophrys	5/7	OMIM:148050
29123	ANKRD11	HP:0000664	Synophrys	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000664	Synophrys	-	OMIM:615777
29123	ANKRD11	HP:0004322	Short stature	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0004322	Short stature	6/7	OMIM:148050
29123	ANKRD11	HP:0004396	Poor appetite	-	OMIM:131300
29123	ANKRD11	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
29123	ANKRD11	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
29123	ANKRD11	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
29123	ANKRD11	HP:0003026	Short long bone	7/7	OMIM:615777
29123	ANKRD11	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
29123	ANKRD11	HP:0000767	Pectus excavatum	2/7	OMIM:615777
29123	ANKRD11	HP:0000768	Pectus carinatum	1/7	OMIM:615777
29123	ANKRD11	HP:0012725	Cutaneous syndactyly	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
29123	ANKRD11	HP:0012725	Cutaneous syndactyly	2/7	OMIM:148050
29123	ANKRD11	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0000750	Delayed speech and language development	-	OMIM:615777
29123	ANKRD11	HP:0000717	Autism	HP:0040281	ORPHA:261250
29123	ANKRD11	HP:0011461	Fetal onset	7/7	OMIM:615777
29123	ANKRD11	HP:0000774	Narrow chest	2/7	OMIM:615777
29123	ANKRD11	HP:0004422	Biparietal narrowing	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0000926	Platyspondyly	1/7	OMIM:615777
29123	ANKRD11	HP:0003180	Flat acetabular roof	-	OMIM:615777
29123	ANKRD11	HP:0000902	Rib fusion	-	OMIM:148050
29123	ANKRD11	HP:0004482	Relative macrocephaly	-	OMIM:615777
29123	ANKRD11	HP:0004467	Preauricular pit	-	OMIM:187500
29123	ANKRD11	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
29123	ANKRD11	HP:0004474	Persistent open anterior fontanelle	HP:0040283	ORPHA:2332
29123	ANKRD11	HP:0000891	Cervical ribs	3/7	OMIM:148050
29123	ANKRD11	HP:0000891	Cervical ribs	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000823	Delayed puberty	-	OMIM:131300
29123	ANKRD11	HP:0040019	Finger clinodactyly	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000894	Short clavicles	-	OMIM:615777
29123	ANKRD11	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
29123	ANKRD11	HP:0000954	Single transverse palmar crease	-	OMIM:148050
29123	ANKRD11	HP:0000954	Single transverse palmar crease	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
29123	ANKRD11	HP:0045017	Congenital malformation of the left heart	HP:0040283	ORPHA:2332
29123	ANKRD11	HP:0000286	Epicanthus	1/7	OMIM:615777
29123	ANKRD11	HP:0000280	Coarse facial features	2/7	OMIM:615777
29123	ANKRD11	HP:0000294	Low anterior hairline	6/7	OMIM:148050
29123	ANKRD11	HP:0000276	Long face	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0002827	Hip dislocation	3/7	OMIM:615777
29123	ANKRD11	HP:0002808	Kyphosis	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0001572	Macrodontia	6/6	OMIM:148050
29123	ANKRD11	HP:0001572	Macrodontia	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0001566	Widely-spaced maxillary central incisors	-	OMIM:148050
29123	ANKRD11	HP:0001566	Widely-spaced maxillary central incisors	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000252	Microcephaly	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000252	Microcephaly	-	OMIM:148050
29123	ANKRD11	HP:0000252	Microcephaly	-	OMIM:615777
29123	ANKRD11	HP:0000248	Brachycephaly	4/7	OMIM:148050
29123	ANKRD11	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000218	High palate	HP:0040282	ORPHA:261250
29123	ANKRD11	HP:0002857	Genu valgum	-	OMIM:131300
29123	ANKRD11	HP:0001533	Slender build	-	OMIM:131300
29123	ANKRD11	HP:0030048	Colpocephaly	HP:0040282	ORPHA:261250
29123	ANKRD11	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
29123	ANKRD11	HP:0007807	Optic nerve compression	-	OMIM:131300
29123	ANKRD11	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0012368	Flat face	7/7	OMIM:615777
29123	ANKRD11	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
29123	ANKRD11	HP:0002948	Vertebral fusion	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0002948	Vertebral fusion	-	OMIM:148050
29123	ANKRD11	HP:0002942	Thoracic kyphosis	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0002942	Thoracic kyphosis	1/7	OMIM:148050
29123	ANKRD11	HP:0000365	Hearing impairment	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0000365	Hearing impairment	10/67	OMIM:131300
29123	ANKRD11	HP:0000358	Posteriorly rotated ears	1/7	OMIM:148050
29123	ANKRD11	HP:0000343	Long philtrum	HP:0040282	ORPHA:261250
29123	ANKRD11	HP:0000343	Long philtrum	7/7	OMIM:148050
29123	ANKRD11	HP:0000343	Long philtrum	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000343	Long philtrum	1/7	OMIM:615777
29123	ANKRD11	HP:0011001	Increased bone mineral density	-	OMIM:131300
29123	ANKRD11	HP:0000337	Broad forehead	-	OMIM:187500
29123	ANKRD11	HP:0000348	High forehead	HP:0040281	ORPHA:261250
29123	ANKRD11	HP:0000347	Micrognathia	HP:0040282	ORPHA:261250
29123	ANKRD11	HP:0000319	Smooth philtrum	HP:0040282	ORPHA:261250
29123	ANKRD11	HP:0000316	Hypertelorism	6/7	OMIM:148050
29123	ANKRD11	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000311	Round face	HP:0040283	ORPHA:2332
29123	ANKRD11	HP:0000311	Round face	2/7	OMIM:615777
29123	ANKRD11	HP:0000311	Round face	-	OMIM:148050
29123	ANKRD11	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0000325	Triangular face	7/7	OMIM:148050
29123	ANKRD11	HP:0000325	Triangular face	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000325	Triangular face	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0002970	Genu varum	-	OMIM:615777
29123	ANKRD11	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
29123	ANKRD11	HP:0000307	Pointed chin	HP:0040282	ORPHA:261250
29123	ANKRD11	HP:0000307	Pointed chin	2/7	OMIM:148050
29123	ANKRD11	HP:0000303	Mandibular prognathia	-	OMIM:131300
29123	ANKRD11	HP:0000400	Macrotia	2/7	OMIM:148050
29123	ANKRD11	HP:0000400	Macrotia	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
29123	ANKRD11	HP:0000483	Astigmatism	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0000486	Strabismus	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000486	Strabismus	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0000494	Downslanted palpebral fissures	1/7	OMIM:148050
29123	ANKRD11	HP:0000463	Anteverted nares	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0000463	Anteverted nares	7/7	OMIM:148050
29123	ANKRD11	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000470	Short neck	2/7	OMIM:148050
29123	ANKRD11	HP:0000470	Short neck	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000470	Short neck	1/7	OMIM:615777
29123	ANKRD11	HP:0000465	Webbed neck	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000465	Webbed neck	2/7	OMIM:148050
29123	ANKRD11	HP:0001769	Broad foot	HP:0040283	OMIM:615777
29123	ANKRD11	HP:0001763	Pes planus	1/7	OMIM:615777
29123	ANKRD11	HP:0000411	Protruding ear	6/7	OMIM:148050
29123	ANKRD11	HP:0000411	Protruding ear	HP:0040281	ORPHA:261250
29123	ANKRD11	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000430	Underdeveloped nasal alae	-	OMIM:148050
29123	ANKRD11	HP:0000426	Prominent nasal bridge	5/7	OMIM:148050
29123	ANKRD11	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0001840	Metatarsus adductus	-	OMIM:615777
29123	ANKRD11	HP:0000520	Proptosis	2/4	OMIM:131300
29123	ANKRD11	HP:0000520	Proptosis	-	OMIM:187500
29123	ANKRD11	HP:0000520	Proptosis	7/7	OMIM:615777
29123	ANKRD11	HP:0000506	Telecanthus	-	OMIM:148050
29123	ANKRD11	HP:0000506	Telecanthus	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0000508	Ptosis	6/7	OMIM:148050
29123	ANKRD11	HP:0000505	Visual impairment	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0000592	Blue sclerae	2/7	OMIM:615777
29123	ANKRD11	HP:0000574	Thick eyebrow	-	OMIM:148050
29123	ANKRD11	HP:0000574	Thick eyebrow	HP:0040282	ORPHA:2332
29123	ANKRD11	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
29123	ANKRD11	HP:0012514	Lower limb pain	4/4	OMIM:131300
29123	ANKRD11	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:261250
29123	ANKRD11	HP:0000545	Myopia	HP:0040283	ORPHA:261250
29127	RACGAP1	HP:0025196	Increased total iron binding capacity	HP:0040282	ORPHA:98870
29127	RACGAP1	HP:0025354	Abnormal cellular phenotype	HP:0040282	ORPHA:98870
29127	RACGAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619789
29127	RACGAP1	HP:0012130	Abnormal erythroid lineage cell morphology	HP:0040282	ORPHA:98870
29127	RACGAP1	HP:0003452	Increased circulating iron concentration	HP:0040282	ORPHA:98870
29127	RACGAP1	HP:0011891	Post-partum hemorrhage	HP:0040283	ORPHA:98870
29127	RACGAP1	HP:0002249	Melena	HP:0040283	ORPHA:98870
29127	RACGAP1	HP:0002315	Headache	HP:0040283	ORPHA:98870
29127	RACGAP1	HP:0025035	Abnormal proerythroblast morphology	HP:0040282	ORPHA:98870
29127	RACGAP1	HP:0005532	Macrocytic dyserythropoietic anemia	1/1	OMIM:619789
29127	RACGAP1	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:98870
29127	RACGAP1	HP:0001972	Macrocytic anemia	1/1	OMIM:619789
29127	RACGAP1	HP:0001903	Anemia	HP:0040281	ORPHA:98870
29127	RACGAP1	HP:0004322	Short stature	HP:0040284	ORPHA:98870
29127	RACGAP1	HP:0011463	Childhood onset	1/1	OMIM:619789
29127	RACGAP1	HP:0004447	Poikilocytosis	HP:0040281	ORPHA:98870
29127	RACGAP1	HP:0000980	Pallor	HP:0040283	ORPHA:98870
29127	RACGAP1	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:98870
29127	RACGAP1	HP:0012378	Fatigue	HP:0040282	ORPHA:98870
29127	RACGAP1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:98870
29127	RACGAP1	HP:0002904	Hyperbilirubinemia	HP:0040282	ORPHA:98870
29127	RACGAP1	HP:0030140	Oral cavity bleeding	HP:0040283	ORPHA:98870
29127	RACGAP1	HP:0011273	Anisocytosis	HP:0040281	ORPHA:98870
29127	RACGAP1	HP:0001877	Abnormal erythrocyte morphology	HP:0040283	ORPHA:98870
29128	UHRF1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2268
29128	UHRF1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2268
29128	UHRF1	HP:0001334	Communicating hydrocephalus	HP:0040282	ORPHA:2268
29128	UHRF1	HP:0000158	Macroglossia	HP:0040283	ORPHA:2268
29128	UHRF1	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:2268
29128	UHRF1	HP:0002024	Malabsorption	HP:0040282	ORPHA:2268
29128	UHRF1	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:2268
29128	UHRF1	HP:0010808	Protruding tongue	HP:0040283	ORPHA:2268
29128	UHRF1	HP:0001903	Anemia	HP:0040282	ORPHA:2268
29128	UHRF1	HP:0004322	Short stature	HP:0040281	ORPHA:2268
29128	UHRF1	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:2268
29128	UHRF1	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:2268
29128	UHRF1	HP:0000286	Epicanthus	HP:0040283	ORPHA:2268
29128	UHRF1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:2268
29128	UHRF1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2268
29128	UHRF1	HP:0012368	Flat face	HP:0040283	ORPHA:2268
29128	UHRF1	HP:0000369	Low-set ears	HP:0040283	ORPHA:2268
29128	UHRF1	HP:0000347	Micrognathia	HP:0040281	ORPHA:2268
29128	UHRF1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2268
29128	UHRF1	HP:0005374	Cellular immunodeficiency	HP:0040282	ORPHA:2268
29128	UHRF1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:2268
29128	UHRF1	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:2268
29128	UHRF1	HP:0001874	Abnormality of neutrophils	HP:0040282	ORPHA:2268
29760	BLNK	HP:0100806	Sepsis	HP:0040283	ORPHA:33110
29760	BLNK	HP:0001287	Meningitis	HP:0040283	ORPHA:33110
29760	BLNK	HP:0001369	Arthritis	HP:0040282	ORPHA:33110
29760	BLNK	HP:0000007	Autosomal recessive inheritance	-	OMIM:613502
29760	BLNK	HP:0012115	Hepatitis	HP:0040283	ORPHA:33110
29760	BLNK	HP:0002754	Osteomyelitis	HP:0040282	ORPHA:33110
29760	BLNK	HP:0002719	Recurrent infections	HP:0040281	ORPHA:33110
29760	BLNK	HP:0002718	Recurrent bacterial infections	1/1	OMIM:613502
29760	BLNK	HP:0002720	Decreased circulating IgA concentration	1/1	OMIM:613502
29760	BLNK	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:33110
29760	BLNK	HP:0002024	Malabsorption	HP:0040283	ORPHA:33110
29760	BLNK	HP:0002014	Diarrhea	HP:0040281	ORPHA:33110
29760	BLNK	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:33110
29760	BLNK	HP:0003593	Infantile onset	1/1	OMIM:613502
29760	BLNK	HP:0002243	Protein-losing enteropathy	1/1	OMIM:613502
29760	BLNK	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:33110
29760	BLNK	HP:0100658	Cellulitis	HP:0040283	ORPHA:33110
29760	BLNK	HP:0200043	Verrucae	HP:0040283	ORPHA:33110
29760	BLNK	HP:0001944	Dehydration	HP:0040283	ORPHA:33110
29760	BLNK	HP:0001945	Fever	HP:0040281	ORPHA:33110
29760	BLNK	HP:0004315	Decreased circulating IgG concentration	1/1	OMIM:613502
29760	BLNK	HP:0012735	Cough	HP:0040281	ORPHA:33110
29760	BLNK	HP:0004432	Agammaglobulinemia	-	OMIM:613502
29760	BLNK	HP:0004432	Agammaglobulinemia	HP:0040281	ORPHA:33110
29760	BLNK	HP:0000988	Skin rash	HP:0040281	ORPHA:33110
29760	BLNK	HP:0000286	Epicanthus	HP:0040283	ORPHA:33110
29760	BLNK	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:33110
29760	BLNK	HP:0000246	Sinusitis	HP:0040281	ORPHA:33110
29760	BLNK	HP:0000218	High palate	HP:0040283	ORPHA:33110
29760	BLNK	HP:0001508	Failure to thrive	HP:0040282	ORPHA:33110
29760	BLNK	HP:0002850	Decreased circulating total IgM	1/1	OMIM:613502
29760	BLNK	HP:0002843	Abnormal T cell morphology	0/1	OMIM:613502
29760	BLNK	HP:0012378	Fatigue	HP:0040281	ORPHA:33110
29760	BLNK	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:33110
29760	BLNK	HP:0000389	Chronic otitis media	HP:0040281	ORPHA:33110
29760	BLNK	HP:0006532	Recurrent pneumonia	1/1	OMIM:613502
29760	BLNK	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33110
29760	BLNK	HP:0000403	Recurrent otitis media	1/1	OMIM:613502
29760	BLNK	HP:0011109	Chronic sinusitis	1/1	OMIM:613502
29760	BLNK	HP:0000509	Conjunctivitis	HP:0040281	ORPHA:33110
29760	BLNK	HP:0001875	Decreased total neutrophil count	1/2	OMIM:613502
29760	BLNK	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33110
29775	CARD10	HP:0000007	Autosomal recessive inheritance	-	OMIM:619632
29775	CARD10	HP:0032446	Pulmonary bulla	1/2	OMIM:619632
29775	CARD10	HP:0002783	Recurrent lower respiratory tract infections	1/2	OMIM:619632
29775	CARD10	HP:0002099	Asthma	2/2	OMIM:619632
29775	CARD10	HP:0002110	Bronchiectasis	1/2	OMIM:619632
29775	CARD10	HP:0003493	Antinuclear antibody positivity	1/1	OMIM:619632
29775	CARD10	HP:0003565	Elevated erythrocyte sedimentation rate	1/2	OMIM:619632
29775	CARD10	HP:0032069	Anti-thyroglobulin antibody positivity	1/2	OMIM:619632
29775	CARD10	HP:0004840	Hypochromic microcytic anemia	2/2	OMIM:619632
29775	CARD10	HP:0003621	Juvenile onset	2/2	OMIM:619632
29775	CARD10	HP:0031891	Decreased total eosinophil count	2/2	OMIM:619632
29775	CARD10	HP:0031944	Pleural thickening	1/2	OMIM:619632
29775	CARD10	HP:0034163	Reduced circulating interleukin 10 concentration	1/2	OMIM:619632
29775	CARD10	HP:0034165	Reduced circulating interleukin 21 concentration	1/2	OMIM:619632
29775	CARD10	HP:0034168	Reduced circulating interleukin 22 concentration	1/2	OMIM:619632
29775	CARD10	HP:0034174	Reduced circulating interleukin 27 concentration	1/2	OMIM:619632
29775	CARD10	HP:0034177	Reduced circulating interleukin 17A concentration	1/2	OMIM:619632
29775	CARD10	HP:0034171	Reduced circulating interleukin 23 concentration	1/2	OMIM:619632
29775	CARD10	HP:0003237	Increased circulating IgG concentration	2/2	OMIM:619632
29775	CARD10	HP:0003212	Increased circulating IgE concentration	1/2	OMIM:619632
29775	CARD10	HP:0003261	Increased circulating IgA concentration	1/2	OMIM:619632
29775	CARD10	HP:0100280	Crohn's disease	2/2	OMIM:619632
29775	CARD10	HP:0002923	Rheumatoid factor positive	1/2	OMIM:619632
29775	CARD10	HP:0011227	Elevated circulating C-reactive protein concentration	1/2	OMIM:619632
29851	ICOS	HP:0001287	Meningitis	-	OMIM:240500
29851	ICOS	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	4/4	OMIM:240500
29851	ICOS	HP:0010976	Decreased total B cell count	4/4	OMIM:607594
29851	ICOS	HP:0002664	Neoplasm	-	OMIM:240500
29851	ICOS	HP:0000007	Autosomal recessive inheritance	-	OMIM:607594
29851	ICOS	HP:0000007	Autosomal recessive inheritance	-	OMIM:240500
29851	ICOS	HP:0002665	Lymphoma	-	OMIM:240500
29851	ICOS	HP:0000006	Autosomal dominant inheritance	-	OMIM:240500
29851	ICOS	HP:0002718	Recurrent bacterial infections	-	OMIM:240500
29851	ICOS	HP:0002718	Recurrent bacterial infections	4/4	OMIM:607594
29851	ICOS	HP:0002716	Lymphadenopathy	-	OMIM:240500
29851	ICOS	HP:0002716	Lymphadenopathy	-	OMIM:607594
29851	ICOS	HP:0002729	Follicular hyperplasia	-	OMIM:240500
29851	ICOS	HP:0002720	Decreased circulating IgA concentration	5/5	OMIM:240500
29851	ICOS	HP:0002720	Decreased circulating IgA concentration	5/5	OMIM:607594
29851	ICOS	HP:0002721	Immunodeficiency	-	OMIM:607594
29851	ICOS	HP:0002014	Diarrhea	-	OMIM:240500
29851	ICOS	HP:0002014	Diarrhea	-	OMIM:607594
29851	ICOS	HP:0002090	Pneumonia	-	OMIM:607594
29851	ICOS	HP:0002110	Bronchiectasis	-	OMIM:240500
29851	ICOS	HP:0002110	Bronchiectasis	-	OMIM:607594
29851	ICOS	HP:0011840	Abnormality of T cell physiology	-	OMIM:240500
29851	ICOS	HP:0011840	Abnormality of T cell physiology	-	OMIM:607594
29851	ICOS	HP:0011839	Abnormal T cell count	0/5	OMIM:240500
29851	ICOS	HP:0011839	Abnormal T cell count	0/4	OMIM:607594
29851	ICOS	HP:0002240	Hepatomegaly	-	OMIM:240500
29851	ICOS	HP:0002240	Hepatomegaly	-	OMIM:607594
29851	ICOS	HP:0001904	Autoimmune neutropenia	HP:0040283	OMIM:607594
29851	ICOS	HP:0004315	Decreased circulating IgG concentration	4/5	OMIM:240500
29851	ICOS	HP:0004315	Decreased circulating IgG concentration	5/5	OMIM:607594
29851	ICOS	HP:0011463	Childhood onset	2/5	OMIM:607594
29851	ICOS	HP:0011462	Young adult onset	3/5	OMIM:607594
29851	ICOS	HP:0002837	Recurrent bronchitis	5/5	OMIM:240500
29851	ICOS	HP:0002837	Recurrent bronchitis	-	OMIM:607594
29851	ICOS	HP:0002850	Decreased circulating total IgM	2/5	OMIM:607594
29851	ICOS	HP:0002850	Decreased circulating total IgM	0/5	OMIM:240500
29851	ICOS	HP:0006532	Recurrent pneumonia	-	OMIM:240500
29851	ICOS	HP:0006532	Recurrent pneumonia	-	OMIM:607594
29851	ICOS	HP:0002960	Autoimmunity	-	OMIM:240500
29851	ICOS	HP:0005387	Combined immunodeficiency	5/5	OMIM:240500
29851	ICOS	HP:0000403	Recurrent otitis media	5/5	OMIM:240500
29851	ICOS	HP:0000403	Recurrent otitis media	-	OMIM:607594
29851	ICOS	HP:0011108	Recurrent sinusitis	-	OMIM:607594
29851	ICOS	HP:0011108	Recurrent sinusitis	5/5	OMIM:240500
29851	ICOS	HP:0001744	Splenomegaly	-	OMIM:240500
29851	ICOS	HP:0001744	Splenomegaly	0/4	OMIM:607594
29851	ICOS	HP:0000509	Conjunctivitis	-	OMIM:240500
29851	ICOS	HP:0000509	Conjunctivitis	-	OMIM:607594
29851	ICOS	HP:0030388	Decreased class-switched memory B cell proportion	4/4	OMIM:607594
29880	ALG5	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:730
29880	ALG5	HP:0003774	Stage 5 chronic kidney disease	6/19	OMIM:620056
29880	ALG5	HP:0008672	Calcium oxalate nephrolithiasis	HP:0040283	ORPHA:730
29880	ALG5	HP:0000083	Renal insufficiency	HP:0040281	ORPHA:730
29880	ALG5	HP:0000083	Renal insufficiency	10/19	OMIM:620056
29880	ALG5	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:730
29880	ALG5	HP:0000006	Autosomal dominant inheritance	-	OMIM:620056
29880	ALG5	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:730
29880	ALG5	HP:0000107	Renal cyst	HP:0040281	ORPHA:730
29880	ALG5	HP:0000105	Enlarged kidney	HP:0040283	ORPHA:730
29880	ALG5	HP:0001407	Hepatic cysts	HP:0040281	ORPHA:730
29880	ALG5	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040284	ORPHA:730
29880	ALG5	HP:0100702	Arachnoid cyst	HP:0040283	ORPHA:730
29880	ALG5	HP:0003581	Adult onset	19/19	OMIM:620056
29880	ALG5	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:730
29880	ALG5	HP:0005562	Multiple renal cysts	16/17	OMIM:620056
29880	ALG5	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:730
29880	ALG5	HP:0000791	Uric acid nephrolithiasis	HP:0040283	ORPHA:730
29880	ALG5	HP:0000790	Hematuria	HP:0040282	ORPHA:730
29880	ALG5	HP:0000822	Hypertension	HP:0040282	ORPHA:730
29880	ALG5	HP:0000822	Hypertension	9/18	OMIM:620056
29880	ALG5	HP:0003259	Elevated circulating creatinine concentration	HP:0040281	ORPHA:730
29880	ALG5	HP:0012213	Decreased glomerular filtration rate	HP:0040281	ORPHA:730
29880	ALG5	HP:0012207	Reduced sperm motility	HP:0040283	ORPHA:730
29880	ALG5	HP:0006557	Polycystic liver disease	HP:0040283	ORPHA:730
29880	ALG5	HP:0011004	Abnormal systemic arterial morphology	HP:0040283	ORPHA:730
29880	ALG5	HP:0012330	Pyelonephritis	HP:0040283	ORPHA:730
29880	ALG5	HP:0030157	Flank pain	HP:0040282	ORPHA:730
29880	ALG5	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:730
29880	ALG5	HP:0032948	Renal interstitial fibrosis	1/1	OMIM:620056
29880	ALG5	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:730
29880	ALG5	HP:0012591	Abnormal urinary electrolyte concentration	HP:0040282	ORPHA:730
29880	ALG5	HP:0012592	Albuminuria	HP:0040282	ORPHA:730
29880	ALG5	HP:0012585	Renal atrophy	7/17	OMIM:620056
29887	SNX10	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
29887	SNX10	HP:0001293	Cranial nerve compression	-	OMIM:131300
29887	SNX10	HP:0001252	Hypotonia	2/7	OMIM:615777
29887	SNX10	HP:0001249	Intellectual disability	5/7	OMIM:615777
29887	SNX10	HP:0001263	Global developmental delay	-	OMIM:615777
29887	SNX10	HP:0002515	Waddling gait	54/102	OMIM:131300
29887	SNX10	HP:0001382	Joint hypermobility	-	OMIM:615777
29887	SNX10	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:667
29887	SNX10	HP:0002694	Sclerosis of skull base	-	OMIM:131300
29887	SNX10	HP:0008897	Postnatal growth retardation	-	OMIM:615777
29887	SNX10	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
29887	SNX10	HP:0001324	Muscle weakness	40/96	OMIM:131300
29887	SNX10	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
29887	SNX10	HP:0000007	Autosomal recessive inheritance	-	OMIM:615085
29887	SNX10	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
29887	SNX10	HP:0001337	Tremor	HP:0040281	ORPHA:667
29887	SNX10	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
29887	SNX10	HP:0002653	Bone pain	HP:0040281	ORPHA:667
29887	SNX10	HP:0002650	Scoliosis	12/14	OMIM:131300
29887	SNX10	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
29887	SNX10	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
29887	SNX10	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
29887	SNX10	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
29887	SNX10	HP:0000175	Cleft palate	2/7	OMIM:615777
29887	SNX10	HP:0006323	Premature loss of primary teeth	HP:0040281	ORPHA:667
29887	SNX10	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:667
29887	SNX10	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:667
29887	SNX10	HP:0002007	Frontal bossing	-	OMIM:615085
29887	SNX10	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:667
29887	SNX10	HP:0003388	Easy fatigability	36/76	OMIM:131300
29887	SNX10	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
29887	SNX10	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:667
29887	SNX10	HP:0002148	Hypophosphatemia	HP:0040283	ORPHA:667
29887	SNX10	HP:0002104	Apnea	HP:0040283	ORPHA:667
29887	SNX10	HP:0010543	Opsoclonus	HP:0040281	ORPHA:667
29887	SNX10	HP:0003593	Infantile onset	2/5	OMIM:615085
29887	SNX10	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:667
29887	SNX10	HP:0002240	Hepatomegaly	6/8	OMIM:615085
29887	SNX10	HP:0002257	Chronic rhinitis	HP:0040281	ORPHA:667
29887	SNX10	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:667
29887	SNX10	HP:0010719	Abnormality of hair texture	HP:0040281	ORPHA:667
29887	SNX10	HP:0011968	Feeding difficulties	-	OMIM:615085
29887	SNX10	HP:0010628	Facial palsy	1/8	OMIM:615085
29887	SNX10	HP:0003510	Severe short stature	7/7	OMIM:615777
29887	SNX10	HP:0002315	Headache	-	OMIM:131300
29887	SNX10	HP:0004976	Knee dislocation	6/7	OMIM:615777
29887	SNX10	HP:0009803	Short phalanx of finger	-	OMIM:615777
29887	SNX10	HP:0009763	Limb pain	63/92	OMIM:131300
29887	SNX10	HP:0003621	Juvenile onset	-	OMIM:131300
29887	SNX10	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
29887	SNX10	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:667
29887	SNX10	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
29887	SNX10	HP:0000639	Nystagmus	HP:0040281	ORPHA:667
29887	SNX10	HP:6001056	Out-toeing	-	OMIM:131300
29887	SNX10	HP:0000651	Diplopia	-	OMIM:131300
29887	SNX10	HP:0000649	Abnormality of visual evoked potentials	HP:0040281	ORPHA:667
29887	SNX10	HP:0000648	Optic atrophy	8/8	OMIM:615085
29887	SNX10	HP:0001956	Truncal obesity	2/7	OMIM:615777
29887	SNX10	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:667
29887	SNX10	HP:0001903	Anemia	HP:0040281	ORPHA:667
29887	SNX10	HP:0001903	Anemia	6/7	OMIM:615085
29887	SNX10	HP:0001903	Anemia	HP:0040283	OMIM:131300
29887	SNX10	HP:0010049	Short metacarpal	-	OMIM:615777
29887	SNX10	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:667
29887	SNX10	HP:0000678	Dental crowding	-	OMIM:615777
29887	SNX10	HP:0000670	Carious teeth	-	OMIM:131300
29887	SNX10	HP:0011304	Broad thumb	2/7	OMIM:615777
29887	SNX10	HP:0000668	Hypodontia	-	OMIM:615777
29887	SNX10	HP:0000664	Synophrys	-	OMIM:615777
29887	SNX10	HP:0004396	Poor appetite	-	OMIM:131300
29887	SNX10	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
29887	SNX10	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
29887	SNX10	HP:0004370	Abnormality of temperature regulation	HP:0040281	ORPHA:667
29887	SNX10	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
29887	SNX10	HP:0003026	Short long bone	7/7	OMIM:615777
29887	SNX10	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
29887	SNX10	HP:0004349	Reduced bone mineral density	HP:0040281	ORPHA:667
29887	SNX10	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:667
29887	SNX10	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:667
29887	SNX10	HP:0000767	Pectus excavatum	2/7	OMIM:615777
29887	SNX10	HP:0000768	Pectus carinatum	1/7	OMIM:615777
29887	SNX10	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
29887	SNX10	HP:0000750	Delayed speech and language development	-	OMIM:615777
29887	SNX10	HP:0011480	Unilateral microphthalmos	1/5	OMIM:615085
29887	SNX10	HP:0011463	Childhood onset	3/5	OMIM:615085
29887	SNX10	HP:0011461	Fetal onset	7/7	OMIM:615777
29887	SNX10	HP:0000774	Narrow chest	HP:0040281	ORPHA:667
29887	SNX10	HP:0000774	Narrow chest	2/7	OMIM:615777
29887	SNX10	HP:0004415	Pulmonary artery stenosis	HP:0040283	ORPHA:667
29887	SNX10	HP:0000926	Platyspondyly	1/7	OMIM:615777
29887	SNX10	HP:0003180	Flat acetabular roof	-	OMIM:615777
29887	SNX10	HP:0004482	Relative macrocephaly	-	OMIM:615777
29887	SNX10	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
29887	SNX10	HP:0000823	Delayed puberty	-	OMIM:131300
29887	SNX10	HP:0000894	Short clavicles	-	OMIM:615777
29887	SNX10	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
29887	SNX10	HP:0000980	Pallor	HP:0040281	ORPHA:667
29887	SNX10	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:667
29887	SNX10	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
29887	SNX10	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:667
29887	SNX10	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:667
29887	SNX10	HP:0000286	Epicanthus	1/7	OMIM:615777
29887	SNX10	HP:0000280	Coarse facial features	2/7	OMIM:615777
29887	SNX10	HP:0000256	Macrocephaly	HP:0040281	ORPHA:667
29887	SNX10	HP:0000256	Macrocephaly	3/8	OMIM:615085
29887	SNX10	HP:0002827	Hip dislocation	3/7	OMIM:615777
29887	SNX10	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:667
29887	SNX10	HP:0000252	Microcephaly	-	OMIM:615777
29887	SNX10	HP:0002857	Genu valgum	-	OMIM:131300
29887	SNX10	HP:0001533	Slender build	-	OMIM:131300
29887	SNX10	HP:0001508	Failure to thrive	2/8	OMIM:615085
29887	SNX10	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
29887	SNX10	HP:0001510	Growth delay	HP:0040281	ORPHA:667
29887	SNX10	HP:0007807	Optic nerve compression	HP:0040281	ORPHA:667
29887	SNX10	HP:0007807	Optic nerve compression	-	OMIM:131300
29887	SNX10	HP:0012368	Flat face	7/7	OMIM:615777
29887	SNX10	HP:0000388	Otitis media	HP:0040281	ORPHA:667
29887	SNX10	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
29887	SNX10	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:667
29887	SNX10	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:667
29887	SNX10	HP:0000365	Hearing impairment	HP:0040281	ORPHA:667
29887	SNX10	HP:0000365	Hearing impairment	10/67	OMIM:131300
29887	SNX10	HP:0000343	Long philtrum	1/7	OMIM:615777
29887	SNX10	HP:0011002	Osteopetrosis	8/8	OMIM:615085
29887	SNX10	HP:0011002	Osteopetrosis	HP:0040281	ORPHA:667
29887	SNX10	HP:0011001	Increased bone mineral density	-	OMIM:131300
29887	SNX10	HP:0000311	Round face	2/7	OMIM:615777
29887	SNX10	HP:0001641	Abnormal pulmonary valve morphology	HP:0040283	ORPHA:667
29887	SNX10	HP:0002970	Genu varum	-	OMIM:615777
29887	SNX10	HP:0000303	Mandibular prognathia	-	OMIM:131300
29887	SNX10	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
29887	SNX10	HP:0000470	Short neck	1/7	OMIM:615777
29887	SNX10	HP:0001769	Broad foot	HP:0040283	OMIM:615777
29887	SNX10	HP:0001763	Pes planus	1/7	OMIM:615777
29887	SNX10	HP:0001744	Splenomegaly	HP:0040281	ORPHA:667
29887	SNX10	HP:0001744	Splenomegaly	6/8	OMIM:615085
29887	SNX10	HP:0001840	Metatarsus adductus	-	OMIM:615777
29887	SNX10	HP:0000520	Proptosis	2/4	OMIM:131300
29887	SNX10	HP:0000520	Proptosis	7/7	OMIM:615777
29887	SNX10	HP:0000505	Visual impairment	HP:0040281	ORPHA:667
29887	SNX10	HP:0000592	Blue sclerae	2/7	OMIM:615777
29887	SNX10	HP:0000572	Visual loss	7/8	OMIM:615085
29887	SNX10	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
29887	SNX10	HP:0012514	Lower limb pain	4/4	OMIM:131300
29887	SNX10	HP:0001873	Thrombocytopenia	2/6	OMIM:615085
29893	PSMC3IP	HP:0001166	Arachnodactyly	HP:0040284	ORPHA:243
29893	PSMC3IP	HP:0009888	Abnormality of secondary sexual hair	HP:0040281	ORPHA:243
29893	PSMC3IP	HP:0001251	Ataxia	HP:0040284	ORPHA:243
29893	PSMC3IP	HP:0008684	Aplasia/hypoplasia of the uterus	HP:0040282	ORPHA:243
29893	PSMC3IP	HP:0000062	Ambiguous genitalia	-	ORPHA:243
29893	PSMC3IP	HP:0000007	Autosomal recessive inheritance	-	OMIM:614324
29893	PSMC3IP	HP:0000144	Decreased fertility	HP:0040281	ORPHA:243
29893	PSMC3IP	HP:0000133	Gonadal dysgenesis	HP:0040280	ORPHA:243
29893	PSMC3IP	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:243
29893	PSMC3IP	HP:0010464	Streak ovary	HP:0040282	ORPHA:243
29893	PSMC3IP	HP:0010463	Aplasia of the ovary	3/3	OMIM:614324
29893	PSMC3IP	HP:0008232	Elevated circulating follicle stimulating hormone level	3/3	OMIM:614324
29893	PSMC3IP	HP:0008222	Female infertility	-	OMIM:614324
29893	PSMC3IP	HP:0008209	Premature ovarian insufficiency	HP:0040280	ORPHA:243
29893	PSMC3IP	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:243
29893	PSMC3IP	HP:0002225	Sparse pubic hair	HP:0040282	ORPHA:243
29893	PSMC3IP	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:243
29893	PSMC3IP	HP:0011969	Elevated circulating luteinizing hormone level	3/3	OMIM:614324
29893	PSMC3IP	HP:0003621	Juvenile onset	3/3	OMIM:614324
29893	PSMC3IP	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040283	ORPHA:243
29893	PSMC3IP	HP:0004322	Short stature	HP:0040283	ORPHA:243
29893	PSMC3IP	HP:0005625	Osteoporosis of vertebrae	HP:0040282	ORPHA:243
29893	PSMC3IP	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:243
29893	PSMC3IP	HP:0000786	Primary amenorrhea	5/5	OMIM:614324
29893	PSMC3IP	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:243
29893	PSMC3IP	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:243
29893	PSMC3IP	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:243
29893	PSMC3IP	HP:0000823	Delayed puberty	3/3	OMIM:614324
29893	PSMC3IP	HP:0000823	Delayed puberty	HP:0040281	ORPHA:243
29893	PSMC3IP	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:243
29893	PSMC3IP	HP:0000938	Osteopenia	HP:0040282	ORPHA:243
29893	PSMC3IP	HP:0000252	Microcephaly	HP:0040284	ORPHA:243
29893	PSMC3IP	HP:0000365	Hearing impairment	HP:0040283	ORPHA:243
29894	CPSF1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
29894	CPSF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
29894	CPSF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
29894	CPSF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618827
29894	CPSF1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
29894	CPSF1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
29894	CPSF1	HP:0003621	Juvenile onset	8/19	OMIM:180100
29894	CPSF1	HP:0000662	Nyctalopia	26/28	OMIM:180100
29894	CPSF1	HP:0011463	Childhood onset	3/19	OMIM:180100
29894	CPSF1	HP:0011462	Young adult onset	8/19	OMIM:180100
29894	CPSF1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
29894	CPSF1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
29894	CPSF1	HP:0007800	Increased axial length of the globe	3/3	OMIM:618827
29894	CPSF1	HP:0011003	High myopia	7/8	OMIM:618827
29894	CPSF1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
29894	CPSF1	HP:0000575	Scotoma	5/18	OMIM:180100
29894	CPSF1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
29894	CPSF1	HP:0000545	Myopia	-	OMIM:180100
29895	MYL11	HP:0001181	Adducted thumb	2/15	OMIM:619110
29895	MYL11	HP:0010880	Increased nuchal translucency	1/10	OMIM:619110
29895	MYL11	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
29895	MYL11	HP:0001293	Cranial nerve compression	-	OMIM:131300
29895	MYL11	HP:0001252	Hypotonia	2/7	OMIM:615777
29895	MYL11	HP:0001249	Intellectual disability	5/7	OMIM:615777
29895	MYL11	HP:0001263	Global developmental delay	-	OMIM:615777
29895	MYL11	HP:0001239	Wrist flexion contracture	11/15	OMIM:619110
29895	MYL11	HP:0006070	Metacarpophalangeal joint contracture	2/15	OMIM:619110
29895	MYL11	HP:0002515	Waddling gait	54/102	OMIM:131300
29895	MYL11	HP:0001382	Joint hypermobility	-	OMIM:615777
29895	MYL11	HP:0002694	Sclerosis of skull base	-	OMIM:131300
29895	MYL11	HP:0000028	Cryptorchidism	3/5	OMIM:619110
29895	MYL11	HP:0008897	Postnatal growth retardation	-	OMIM:615777
29895	MYL11	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
29895	MYL11	HP:0001324	Muscle weakness	40/96	OMIM:131300
29895	MYL11	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
29895	MYL11	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
29895	MYL11	HP:0000007	Autosomal recessive inheritance	-	OMIM:619110
29895	MYL11	HP:0000006	Autosomal dominant inheritance	-	OMIM:619110
29895	MYL11	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
29895	MYL11	HP:0002650	Scoliosis	6/15	OMIM:619110
29895	MYL11	HP:0002650	Scoliosis	12/14	OMIM:131300
29895	MYL11	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
29895	MYL11	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
29895	MYL11	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
29895	MYL11	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
29895	MYL11	HP:0000193	Bifid uvula	1/8	OMIM:619110
29895	MYL11	HP:0000160	Narrow mouth	10/15	OMIM:619110
29895	MYL11	HP:0000175	Cleft palate	2/14	OMIM:619110
29895	MYL11	HP:0000175	Cleft palate	2/7	OMIM:615777
29895	MYL11	HP:0410030	Cleft lip	2/14	OMIM:619110
29895	MYL11	HP:0003388	Easy fatigability	36/76	OMIM:131300
29895	MYL11	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
29895	MYL11	HP:0100490	Camptodactyly of finger	14/15	OMIM:619110
29895	MYL11	HP:0003577	Congenital onset	10/10	OMIM:619110
29895	MYL11	HP:0033357	Limited head rotation	4/15	OMIM:619110
29895	MYL11	HP:0003510	Severe short stature	7/7	OMIM:615777
29895	MYL11	HP:0002315	Headache	-	OMIM:131300
29895	MYL11	HP:0004976	Knee dislocation	6/7	OMIM:615777
29895	MYL11	HP:0009803	Short phalanx of finger	-	OMIM:615777
29895	MYL11	HP:0009763	Limb pain	63/92	OMIM:131300
29895	MYL11	HP:0003621	Juvenile onset	-	OMIM:131300
29895	MYL11	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
29895	MYL11	HP:0004209	Clinodactyly of the 5th finger	1/15	OMIM:619110
29895	MYL11	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
29895	MYL11	HP:6001056	Out-toeing	-	OMIM:131300
29895	MYL11	HP:0000651	Diplopia	-	OMIM:131300
29895	MYL11	HP:0001956	Truncal obesity	2/7	OMIM:615777
29895	MYL11	HP:0001903	Anemia	HP:0040283	OMIM:131300
29895	MYL11	HP:0010049	Short metacarpal	-	OMIM:615777
29895	MYL11	HP:0000678	Dental crowding	-	OMIM:615777
29895	MYL11	HP:0000670	Carious teeth	-	OMIM:131300
29895	MYL11	HP:0011304	Broad thumb	2/7	OMIM:615777
29895	MYL11	HP:0000668	Hypodontia	-	OMIM:615777
29895	MYL11	HP:0000664	Synophrys	-	OMIM:615777
29895	MYL11	HP:0004325	Decreased body weight	3/14	OMIM:619110
29895	MYL11	HP:0004322	Short stature	5/10	OMIM:619110
29895	MYL11	HP:0004396	Poor appetite	-	OMIM:131300
29895	MYL11	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
29895	MYL11	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
29895	MYL11	HP:0003044	Shoulder flexion contracture	2/15	OMIM:619110
29895	MYL11	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
29895	MYL11	HP:0003026	Short long bone	7/7	OMIM:615777
29895	MYL11	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
29895	MYL11	HP:0000767	Pectus excavatum	2/7	OMIM:615777
29895	MYL11	HP:0000768	Pectus carinatum	1/7	OMIM:615777
29895	MYL11	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
29895	MYL11	HP:0000750	Delayed speech and language development	-	OMIM:615777
29895	MYL11	HP:0011461	Fetal onset	7/7	OMIM:615777
29895	MYL11	HP:0000774	Narrow chest	2/7	OMIM:615777
29895	MYL11	HP:0000926	Platyspondyly	1/7	OMIM:615777
29895	MYL11	HP:0003180	Flat acetabular roof	-	OMIM:615777
29895	MYL11	HP:0004482	Relative macrocephaly	-	OMIM:615777
29895	MYL11	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
29895	MYL11	HP:0000823	Delayed puberty	-	OMIM:131300
29895	MYL11	HP:0000894	Short clavicles	-	OMIM:615777
29895	MYL11	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
29895	MYL11	HP:0003273	Hip contracture	6/15	OMIM:619110
29895	MYL11	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
29895	MYL11	HP:0000286	Epicanthus	1/7	OMIM:615777
29895	MYL11	HP:0000280	Coarse facial features	2/7	OMIM:615777
29895	MYL11	HP:0000278	Retrognathia	2/15	OMIM:619110
29895	MYL11	HP:0002827	Hip dislocation	3/7	OMIM:615777
29895	MYL11	HP:0006380	Knee flexion contracture	6/15	OMIM:619110
29895	MYL11	HP:0000252	Microcephaly	-	OMIM:615777
29895	MYL11	HP:0000218	High palate	2/15	OMIM:619110
29895	MYL11	HP:0000233	Thin vermilion border	2/8	OMIM:619110
29895	MYL11	HP:0002857	Genu valgum	-	OMIM:131300
29895	MYL11	HP:0000205	Pursed lips	2/15	OMIM:619110
29895	MYL11	HP:0001533	Slender build	-	OMIM:131300
29895	MYL11	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
29895	MYL11	HP:0007807	Optic nerve compression	-	OMIM:131300
29895	MYL11	HP:0012368	Flat face	7/7	OMIM:615777
29895	MYL11	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
29895	MYL11	HP:0000365	Hearing impairment	10/67	OMIM:131300
29895	MYL11	HP:0000343	Long philtrum	1/7	OMIM:615777
29895	MYL11	HP:0011001	Increased bone mineral density	-	OMIM:131300
29895	MYL11	HP:0000311	Round face	2/7	OMIM:615777
29895	MYL11	HP:0002987	Elbow flexion contracture	4/12	OMIM:619110
29895	MYL11	HP:0002970	Genu varum	-	OMIM:615777
29895	MYL11	HP:0000303	Mandibular prognathia	-	OMIM:131300
29895	MYL11	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
29895	MYL11	HP:0000470	Short neck	2/10	OMIM:619110
29895	MYL11	HP:0000470	Short neck	1/7	OMIM:615777
29895	MYL11	HP:0000466	Limited neck range of motion	4/9	OMIM:619110
29895	MYL11	HP:0001769	Broad foot	HP:0040283	OMIM:615777
29895	MYL11	HP:0001763	Pes planus	1/7	OMIM:615777
29895	MYL11	HP:0001762	Talipes equinovarus	9/16	OMIM:619110
29895	MYL11	HP:0001840	Metatarsus adductus	-	OMIM:615777
29895	MYL11	HP:0000520	Proptosis	2/4	OMIM:131300
29895	MYL11	HP:0000520	Proptosis	7/7	OMIM:615777
29895	MYL11	HP:0001838	Rocker bottom foot	5/10	OMIM:619110
29895	MYL11	HP:0001836	Camptodactyly of toe	2/13	OMIM:619110
29895	MYL11	HP:0000581	Blepharophimosis	1/15	OMIM:619110
29895	MYL11	HP:0000592	Blue sclerae	2/7	OMIM:615777
29895	MYL11	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
29895	MYL11	HP:0012514	Lower limb pain	4/4	OMIM:131300
29899	GPSM2	HP:0008625	Severe sensorineural hearing impairment	12/12	OMIM:604213
29899	GPSM2	HP:0001270	Motor delay	5/12	OMIM:604213
29899	GPSM2	HP:0001256	Intellectual disability, mild	5/12	OMIM:604213
29899	GPSM2	HP:0001250	Seizure	2/12	OMIM:604213
29899	GPSM2	HP:0001338	Partial agenesis of the corpus callosum	12/12	OMIM:604213
29899	GPSM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:604213
29899	GPSM2	HP:0001321	Cerebellar hypoplasia	-	OMIM:604213
29899	GPSM2	HP:0002700	Large foramen magnum	-	OMIM:604213
29899	GPSM2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:604213
29899	GPSM2	HP:0002119	Ventriculomegaly	12/12	OMIM:604213
29899	GPSM2	HP:0002126	Polymicrogyria	9/9	OMIM:604213
29899	GPSM2	HP:0100702	Arachnoid cyst	8/9	OMIM:604213
29899	GPSM2	HP:0002282	Gray matter heterotopia	9/9	OMIM:604213
29899	GPSM2	HP:0007033	Cerebellar dysplasia	8/9	OMIM:604213
29899	GPSM2	HP:0006989	Dysplastic corpus callosum	-	OMIM:604213
29899	GPSM2	HP:0000238	Hydrocephalus	7/12	OMIM:604213
29914	UBIAD1	HP:0001131	Corneal dystrophy	-	OMIM:121800
29914	UBIAD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:121800
29914	UBIAD1	HP:0007760	Crystalline corneal dystrophy	-	OMIM:121800
29920	PYCR2	HP:0002487	Hyperkinetic movements	-	OMIM:616420
29920	PYCR2	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0001166	Arachnodactyly	-	OMIM:616420
29920	PYCR2	HP:0002465	Poor speech	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0007258	Severe demyelination of the white matter	HP:0040282	ORPHA:481152
29920	PYCR2	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
29920	PYCR2	HP:0002415	Leukodystrophy	-	OMIM:616420
29920	PYCR2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
29920	PYCR2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0001250	Seizure	HP:0040282	ORPHA:481152
29920	PYCR2	HP:0001250	Seizure	HP:0040283	OMIM:616420
29920	PYCR2	HP:0001252	Hypotonia	HP:0040282	ORPHA:481152
29920	PYCR2	HP:0001251	Ataxia	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:481152
29920	PYCR2	HP:0001263	Global developmental delay	4/4	OMIM:616420
29920	PYCR2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
29920	PYCR2	HP:0001257	Spasticity	HP:0040282	ORPHA:481152
29920	PYCR2	HP:0001257	Spasticity	-	OMIM:616420
29920	PYCR2	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
29920	PYCR2	HP:0002540	Inability to walk	HP:0040281	ORPHA:481152
29920	PYCR2	HP:0002540	Inability to walk	4/4	OMIM:616420
29920	PYCR2	HP:0002509	Limb hypertonia	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
29920	PYCR2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0001347	Hyperreflexia	-	OMIM:616420
29920	PYCR2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
29920	PYCR2	HP:0001344	Absent speech	HP:0040281	ORPHA:481152
29920	PYCR2	HP:0001344	Absent speech	-	OMIM:616420
29920	PYCR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616420
29920	PYCR2	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
29920	PYCR2	HP:0008936	Axial hypotonia	-	OMIM:616420
29920	PYCR2	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
29920	PYCR2	HP:0002013	Vomiting	HP:0040282	ORPHA:481152
29920	PYCR2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:481152
29920	PYCR2	HP:0002079	Hypoplasia of the corpus callosum	4/4	OMIM:616420
29920	PYCR2	HP:0002059	Cerebral atrophy	-	OMIM:616420
29920	PYCR2	HP:0003487	Babinski sign	-	OMIM:616420
29920	PYCR2	HP:0002120	Cerebral cortical atrophy	-	OMIM:616420
29920	PYCR2	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
29920	PYCR2	HP:0003429	CNS hypomyelination	4/4	OMIM:616420
29920	PYCR2	HP:0003429	CNS hypomyelination	HP:0040282	ORPHA:481152
29920	PYCR2	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0009739	Hypoplasia of the antihelix	1/4	OMIM:616420
29920	PYCR2	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
29920	PYCR2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:481152
29920	PYCR2	HP:0002365	Hypoplasia of the brainstem	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0002365	Hypoplasia of the brainstem	4/4	OMIM:616420
29920	PYCR2	HP:0002376	Developmental regression	HP:0040282	ORPHA:481152
29920	PYCR2	HP:0003676	Progressive	-	OMIM:616420
29920	PYCR2	HP:0000639	Nystagmus	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000639	Nystagmus	HP:0040283	OMIM:616420
29920	PYCR2	HP:0010055	Broad hallux	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:481152
29920	PYCR2	HP:0011304	Broad thumb	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:481152
29920	PYCR2	HP:0004322	Short stature	HP:0040281	ORPHA:2512
29920	PYCR2	HP:0005659	Thoracic kyphoscoliosis	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000737	Irritability	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
29920	PYCR2	HP:0003196	Short nose	-	OMIM:616420
29920	PYCR2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0034295	Reduced cerebral white matter volume	4/4	OMIM:616420
29920	PYCR2	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040282	ORPHA:481152
29920	PYCR2	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:481152
29920	PYCR2	HP:0003202	Skeletal muscle atrophy	4/4	OMIM:616420
29920	PYCR2	HP:0000272	Malar flattening	-	OMIM:616420
29920	PYCR2	HP:0006460	Increased laxity of ankles	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0005072	Wrist hypermobility	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000253	Progressive microcephaly	HP:0040281	ORPHA:481152
29920	PYCR2	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
29920	PYCR2	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
29920	PYCR2	HP:0000218	High palate	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000233	Thin vermilion border	2/4	OMIM:616420
29920	PYCR2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:481152
29920	PYCR2	HP:0001508	Failure to thrive	-	OMIM:616420
29920	PYCR2	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
29920	PYCR2	HP:0000396	Overfolded helix	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000365	Hearing impairment	-	OMIM:616420
29920	PYCR2	HP:0000369	Low-set ears	HP:0040282	ORPHA:481152
29920	PYCR2	HP:0000369	Low-set ears	-	OMIM:616420
29920	PYCR2	HP:0000341	Narrow forehead	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000341	Narrow forehead	-	OMIM:616420
29920	PYCR2	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
29920	PYCR2	HP:0000343	Long philtrum	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000343	Long philtrum	-	OMIM:616420
29920	PYCR2	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000319	Smooth philtrum	-	OMIM:616420
29920	PYCR2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:481152
29920	PYCR2	HP:0000325	Triangular face	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000325	Triangular face	-	OMIM:616420
29920	PYCR2	HP:0011166	Focal myoclonic seizure	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000400	Macrotia	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000494	Downslanted palpebral fissures	2/4	OMIM:616420
29920	PYCR2	HP:0000463	Anteverted nares	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000463	Anteverted nares	-	OMIM:616420
29920	PYCR2	HP:0000414	Bulbous nose	HP:0040282	ORPHA:481152
29920	PYCR2	HP:0000414	Bulbous nose	1/4	OMIM:616420
29920	PYCR2	HP:0000411	Protruding ear	HP:0040282	ORPHA:481152
29920	PYCR2	HP:0005484	Secondary microcephaly	4/4	OMIM:616420
29920	PYCR2	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0000582	Upslanted palpebral fissure	1/4	OMIM:616420
29920	PYCR2	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
29920	PYCR2	HP:0000577	Exotropia	1/4	OMIM:616420
29920	PYCR2	HP:0011229	Broad eyebrow	HP:0040283	ORPHA:481152
29920	PYCR2	HP:0011231	Prominent eyelashes	2/4	OMIM:616420
29920	PYCR2	HP:0000565	Esotropia	HP:0040283	ORPHA:481152
29925	GMPPB	HP:0002465	Poor speech	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0002460	Distal muscle weakness	HP:0040284	ORPHA:353327
29925	GMPPB	HP:0002435	Meningocele	HP:0040283	ORPHA:588
29925	GMPPB	HP:0007260	Type II lissencephaly	HP:0040282	ORPHA:370959
29925	GMPPB	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:370959
29925	GMPPB	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0002421	Poor head control	2/8	OMIM:615350
29925	GMPPB	HP:0002421	Poor head control	2/4	OMIM:615351
29925	GMPPB	HP:0002421	Poor head control	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0003707	Calf muscle pseudohypertrophy	HP:0040282	ORPHA:370959
29925	GMPPB	HP:0003701	Proximal muscle weakness	-	OMIM:615352
29925	GMPPB	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:353327
29925	GMPPB	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:370959
29925	GMPPB	HP:0003712	Skeletal muscle hypertrophy	HP:0040282	ORPHA:370959
29925	GMPPB	HP:0003712	Skeletal muscle hypertrophy	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:353327
29925	GMPPB	HP:0001276	Hypertonia	1/4	OMIM:615351
29925	GMPPB	HP:0001276	Hypertonia	HP:0040282	ORPHA:588
29925	GMPPB	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0001270	Motor delay	HP:0040282	ORPHA:370968
29925	GMPPB	HP:0001270	Motor delay	2/8	OMIM:615351
29925	GMPPB	HP:0001270	Motor delay	HP:0040283	OMIM:615352
29925	GMPPB	HP:0001270	Motor delay	HP:0040282	ORPHA:353327
29925	GMPPB	HP:0001288	Gait disturbance	HP:0040281	ORPHA:588
29925	GMPPB	HP:0001288	Gait disturbance	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0001284	Areflexia	HP:0040282	ORPHA:353327
29925	GMPPB	HP:0001256	Intellectual disability, mild	2/3	OMIM:615352
29925	GMPPB	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0001250	Seizure	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0001250	Seizure	HP:0040282	ORPHA:588
29925	GMPPB	HP:0001250	Seizure	HP:0040282	ORPHA:363623
29925	GMPPB	HP:0001250	Seizure	4/8	OMIM:615350
29925	GMPPB	HP:0001250	Seizure	2/4	OMIM:615351
29925	GMPPB	HP:0001250	Seizure	2/3	OMIM:615352
29925	GMPPB	HP:0001252	Hypotonia	HP:0040282	ORPHA:588
29925	GMPPB	HP:0001252	Hypotonia	HP:0040282	ORPHA:363623
29925	GMPPB	HP:0001252	Hypotonia	2/8	OMIM:615350
29925	GMPPB	HP:0001252	Hypotonia	2/4	OMIM:615351
29925	GMPPB	HP:0001252	Hypotonia	1/3	OMIM:615352
29925	GMPPB	HP:0001251	Ataxia	1/8	OMIM:615350
29925	GMPPB	HP:0001249	Intellectual disability	HP:0040281	ORPHA:370968
29925	GMPPB	HP:0001249	Intellectual disability	HP:0040282	ORPHA:363623
29925	GMPPB	HP:0001249	Intellectual disability	7/8	OMIM:615350
29925	GMPPB	HP:0001249	Intellectual disability	4/4	OMIM:615351
29925	GMPPB	HP:0001263	Global developmental delay	HP:0040282	ORPHA:370968
29925	GMPPB	HP:0001263	Global developmental delay	HP:0040282	ORPHA:370959
29925	GMPPB	HP:0001263	Global developmental delay	HP:0040282	ORPHA:363623
29925	GMPPB	HP:0001263	Global developmental delay	-	OMIM:615350
29925	GMPPB	HP:0001263	Global developmental delay	-	OMIM:615351
29925	GMPPB	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:588
29925	GMPPB	HP:0007361	Abnormal pons morphology	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0002540	Inability to walk	2/8	OMIM:615350
29925	GMPPB	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0002515	Waddling gait	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0003803	Type 1 muscle fiber predominance	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0001371	Flexion contracture	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0000054	Micropenis	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:588
29925	GMPPB	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0001324	Muscle weakness	8/8	OMIM:615350
29925	GMPPB	HP:0001324	Muscle weakness	4/4	OMIM:615351
29925	GMPPB	HP:0001324	Muscle weakness	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0001344	Absent speech	1/8	OMIM:615350
29925	GMPPB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615350
29925	GMPPB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615351
29925	GMPPB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615352
29925	GMPPB	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0002650	Scoliosis	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0002650	Scoliosis	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0001321	Cerebellar hypoplasia	3/7	OMIM:615350
29925	GMPPB	HP:0001321	Cerebellar hypoplasia	2/4	OMIM:615351
29925	GMPPB	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:370959
29925	GMPPB	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:370959
29925	GMPPB	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0000158	Macroglossia	HP:0040282	ORPHA:370959
29925	GMPPB	HP:0000175	Cleft palate	1/8	OMIM:615350
29925	GMPPB	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0008981	Calf muscle hypertrophy	HP:0040282	ORPHA:370968
29925	GMPPB	HP:0008959	Distal upper limb muscle weakness	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0008947	Floppy infant	HP:0040281	ORPHA:370968
29925	GMPPB	HP:0012110	Hypoplasia of the pons	1/7	OMIM:615350
29925	GMPPB	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0003327	Axial muscle weakness	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0003327	Axial muscle weakness	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:370968
29925	GMPPB	HP:0003325	Limb-girdle muscle weakness	3/3	OMIM:615352
29925	GMPPB	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:353327
29925	GMPPB	HP:0004637	Decreased cervical spine mobility	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0002085	Occipital encephalocele	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:588
29925	GMPPB	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0002093	Respiratory insufficiency	1/3	OMIM:615352
29925	GMPPB	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0003394	Muscle spasm	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0003394	Muscle spasm	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0003391	Gowers sign	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0002058	Myopathic facies	-	OMIM:615351
29925	GMPPB	HP:0003388	Easy fatigability	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0003388	Easy fatigability	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0003473	Fatigable weakness	HP:0040282	ORPHA:353327
29925	GMPPB	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:370968
29925	GMPPB	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0003457	EMG abnormality	HP:0040281	ORPHA:588
29925	GMPPB	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040282	ORPHA:353327
29925	GMPPB	HP:0002198	Dilated fourth ventricle	HP:0040282	ORPHA:370959
29925	GMPPB	HP:0002169	Clonus	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:588
29925	GMPPB	HP:0003593	Infantile onset	2/8	OMIM:615350
29925	GMPPB	HP:0003593	Infantile onset	2/4	OMIM:615351
29925	GMPPB	HP:0003577	Congenital onset	3/8	OMIM:615350
29925	GMPPB	HP:0003577	Congenital onset	1/4	OMIM:615351
29925	GMPPB	HP:0003577	Congenital onset	1/3	OMIM:615352
29925	GMPPB	HP:0003551	Difficulty climbing stairs	1/8	OMIM:615350
29925	GMPPB	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:363623
29925	GMPPB	HP:0003549	Abnormality of connective tissue	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0003546	Exercise intolerance	1/3	OMIM:615352
29925	GMPPB	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0003560	Muscular dystrophy	-	OMIM:615350
29925	GMPPB	HP:0003560	Muscular dystrophy	-	OMIM:615351
29925	GMPPB	HP:0003560	Muscular dystrophy	-	OMIM:615352
29925	GMPPB	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:370959
29925	GMPPB	HP:0002282	Gray matter heterotopia	HP:0040282	ORPHA:370959
29925	GMPPB	HP:0007015	Poor gross motor coordination	HP:0040282	ORPHA:370968
29925	GMPPB	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:370968
29925	GMPPB	HP:0011968	Feeding difficulties	2/8	OMIM:615350
29925	GMPPB	HP:0011968	Feeding difficulties	1/4	OMIM:615351
29925	GMPPB	HP:0010628	Facial palsy	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0010628	Facial palsy	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0002365	Hypoplasia of the brainstem	HP:0040282	ORPHA:370959
29925	GMPPB	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:370959
29925	GMPPB	HP:0003691	Scapular winging	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0002359	Frequent falls	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0002353	EEG abnormality	HP:0040281	ORPHA:588
29925	GMPPB	HP:0002350	Cerebellar cyst	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0007204	Diffuse white matter abnormalities	HP:0040282	ORPHA:370959
29925	GMPPB	HP:0008443	Neuropathic spinal arthropathy	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0003623	Neonatal onset	1/8	OMIM:615350
29925	GMPPB	HP:0003623	Neonatal onset	1/4	OMIM:615351
29925	GMPPB	HP:0006899	Fusion of the cerebellar hemispheres	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0000639	Nystagmus	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0000639	Nystagmus	1/4	OMIM:615351
29925	GMPPB	HP:0000639	Nystagmus	1/3	OMIM:615352
29925	GMPPB	HP:0000648	Optic atrophy	HP:0040281	ORPHA:588
29925	GMPPB	HP:0000648	Optic atrophy	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0000618	Blindness	HP:0040284	ORPHA:370959
29925	GMPPB	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0009055	Generalized limb muscle atrophy	-	OMIM:615351
29925	GMPPB	HP:0012695	Decreased thalamic volume	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0009046	Difficulty running	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0009028	Generalized weakness of limb muscles	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0006955	Olivopontocerebellar hypoplasia	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:588
29925	GMPPB	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:588
29925	GMPPB	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0011463	Childhood onset	2/8	OMIM:615350
29925	GMPPB	HP:0011463	Childhood onset	2/3	OMIM:615352
29925	GMPPB	HP:0003198	Myopathy	HP:0040282	ORPHA:353327
29925	GMPPB	HP:0003198	Myopathy	HP:0040281	ORPHA:588
29925	GMPPB	HP:0100301	Muscle fiber tubular inclusions	HP:0040282	ORPHA:353327
29925	GMPPB	HP:0003236	Elevated circulating creatine kinase concentration	8/8	OMIM:615350
29925	GMPPB	HP:0003236	Elevated circulating creatine kinase concentration	4/4	OMIM:615351
29925	GMPPB	HP:0003236	Elevated circulating creatine kinase concentration	3/3	OMIM:615352
29925	GMPPB	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:588
29925	GMPPB	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:370968
29925	GMPPB	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:370959
29925	GMPPB	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:363623
29925	GMPPB	HP:0003200	Ragged-red muscle fibers	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0034392	Joint contracture	-	OMIM:615351
29925	GMPPB	HP:0040173	Abnormality of the tongue muscle	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0002827	Hip dislocation	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:370968
29925	GMPPB	HP:0030099	Reduced muscle fiber alpha dystroglycan	HP:0040281	ORPHA:370968
29925	GMPPB	HP:0030099	Reduced muscle fiber alpha dystroglycan	HP:0040281	ORPHA:370959
29925	GMPPB	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:588
29925	GMPPB	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:370959
29925	GMPPB	HP:0000252	Microcephaly	HP:0040282	ORPHA:370968
29925	GMPPB	HP:0000252	Microcephaly	HP:0040282	ORPHA:370959
29925	GMPPB	HP:0000252	Microcephaly	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0000252	Microcephaly	4/8	OMIM:615350
29925	GMPPB	HP:0000252	Microcephaly	1/4	OMIM:615351
29925	GMPPB	HP:0000252	Microcephaly	2/3	OMIM:615352
29925	GMPPB	HP:0002878	Respiratory failure	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0000218	High palate	HP:0040282	ORPHA:353327
29925	GMPPB	HP:0001562	Oligohydramnios	1/8	OMIM:615350
29925	GMPPB	HP:0001558	Decreased fetal movement	3/8	OMIM:615350
29925	GMPPB	HP:0001558	Decreased fetal movement	3/4	OMIM:615351
29925	GMPPB	HP:0030046	Hypoglycosylation of alpha-dystroglycan	HP:0040281	ORPHA:370968
29925	GMPPB	HP:0030046	Hypoglycosylation of alpha-dystroglycan	HP:0040281	ORPHA:370959
29925	GMPPB	HP:0030046	Hypoglycosylation of alpha-dystroglycan	-	OMIM:615350
29925	GMPPB	HP:0030046	Hypoglycosylation of alpha-dystroglycan	-	OMIM:615351
29925	GMPPB	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1/1	OMIM:615352
29925	GMPPB	HP:0030205	Increased jitter at single fiber EMG	HP:0040282	ORPHA:353327
29925	GMPPB	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	HP:0040282	ORPHA:353327
29925	GMPPB	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:588
29925	GMPPB	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0002938	Lumbar hyperlordosis	HP:0040282	ORPHA:370959
29925	GMPPB	HP:0030197	Fatigable weakness of skeletal muscles	HP:0040282	ORPHA:370968
29925	GMPPB	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0030191	Abnormal peripheral nervous system synaptic transmission	HP:0040282	ORPHA:353327
29925	GMPPB	HP:0001657	Prolonged QT interval	1/4	OMIM:615351
29925	GMPPB	HP:0001638	Cardiomyopathy	1/3	OMIM:615352
29925	GMPPB	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:370959
29925	GMPPB	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0006698	Dilatation of the ventricular cavity	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0000407	Sensorineural hearing impairment	1/8	OMIM:615350
29925	GMPPB	HP:0000486	Strabismus	HP:0040281	ORPHA:588
29925	GMPPB	HP:0000486	Strabismus	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0000486	Strabismus	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0000486	Strabismus	3/4	OMIM:615351
29925	GMPPB	HP:0000485	Megalocornea	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0011102	Ileal atresia	1/4	OMIM:615351
29925	GMPPB	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:370959
29925	GMPPB	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0001763	Pes planus	HP:0040282	ORPHA:353327
29925	GMPPB	HP:0000518	Cataract	3/8	OMIM:615350
29925	GMPPB	HP:0000518	Cataract	1/4	OMIM:615351
29925	GMPPB	HP:0000518	Cataract	1/3	OMIM:615352
29925	GMPPB	HP:0000518	Cataract	HP:0040282	ORPHA:588
29925	GMPPB	HP:0000518	Cataract	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0000518	Cataract	HP:0040283	ORPHA:363623
29925	GMPPB	HP:0000525	Abnormality iris morphology	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0000508	Ptosis	2/4	OMIM:615351
29925	GMPPB	HP:0000508	Ptosis	HP:0040283	ORPHA:353327
29925	GMPPB	HP:0000505	Visual impairment	HP:0040281	ORPHA:588
29925	GMPPB	HP:0000501	Glaucoma	HP:0040281	ORPHA:588
29925	GMPPB	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0000589	Coloboma	HP:0040283	ORPHA:370959
29925	GMPPB	HP:0000568	Microphthalmia	HP:0040284	ORPHA:370959
29925	GMPPB	HP:0000541	Retinal detachment	HP:0040284	ORPHA:370959
29925	GMPPB	HP:0000545	Myopia	HP:0040281	ORPHA:588
29925	GMPPB	HP:0000545	Myopia	HP:0040283	ORPHA:370968
29925	GMPPB	HP:0000545	Myopia	HP:0040283	ORPHA:370959
29926	GMPPA	HP:0009916	Anisocoria	3/11	OMIM:615510
29926	GMPPA	HP:0009890	High anterior hairline	1/2	OMIM:615510
29926	GMPPA	HP:0001290	Generalized hypotonia	2/2	OMIM:615510
29926	GMPPA	HP:0001278	Orthostatic hypotension	3/11	OMIM:615510
29926	GMPPA	HP:0001252	Hypotonia	5/12	OMIM:615510
29926	GMPPA	HP:0001252	Hypotonia	HP:0040283	ORPHA:869
29926	GMPPA	HP:0001251	Ataxia	HP:0040283	ORPHA:869
29926	GMPPA	HP:0001251	Ataxia	1/10	OMIM:615510
29926	GMPPA	HP:0001249	Intellectual disability	12/13	OMIM:615510
29926	GMPPA	HP:0001249	Intellectual disability	HP:0040283	ORPHA:869
29926	GMPPA	HP:0001263	Global developmental delay	15/15	OMIM:615510
29926	GMPPA	HP:0001257	Spasticity	2/10	OMIM:615510
29926	GMPPA	HP:0002571	Achalasia	13/14	OMIM:615510
29926	GMPPA	HP:0002571	Achalasia	HP:0040281	ORPHA:869
29926	GMPPA	HP:0007440	Generalized hyperpigmentation	HP:0040281	ORPHA:869
29926	GMPPA	HP:0031078	Impaired cortisol response to corticotropin releasing hormone stimulation test	HP:0040282	ORPHA:869
29926	GMPPA	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:869
29926	GMPPA	HP:0001347	Hyperreflexia	2/12	OMIM:615510
29926	GMPPA	HP:0007556	Plantar hyperkeratosis	HP:0040283	ORPHA:869
29926	GMPPA	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:869
29926	GMPPA	HP:0000007	Autosomal recessive inheritance	-	OMIM:615510
29926	GMPPA	HP:0002643	Neonatal respiratory distress	2/2	OMIM:615510
29926	GMPPA	HP:0002615	Hypotension	HP:0040282	ORPHA:869
29926	GMPPA	HP:0002714	Downturned corners of mouth	2/2	OMIM:615510
29926	GMPPA	HP:0002015	Dysphagia	3/13	OMIM:615510
29926	GMPPA	HP:0002013	Vomiting	HP:0040282	ORPHA:869
29926	GMPPA	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:869
29926	GMPPA	HP:0010450	Esophageal stenosis	2/2	OMIM:615510
29926	GMPPA	HP:0010486	Abnormality of the hypothenar eminence	HP:0040283	ORPHA:869
29926	GMPPA	HP:0008163	Decreased circulating cortisol level	HP:0040282	ORPHA:869
29926	GMPPA	HP:0003474	Somatic sensory dysfunction	2/12	OMIM:615510
29926	GMPPA	HP:0002173	Hypoglycemic seizures	HP:0040282	ORPHA:869
29926	GMPPA	HP:0003593	Infantile onset	13/13	OMIM:615510
29926	GMPPA	HP:0003577	Congenital onset	13/13	OMIM:615510
29926	GMPPA	HP:0007002	Motor axonal neuropathy	HP:0040283	ORPHA:869
29926	GMPPA	HP:0011968	Feeding difficulties	4/15	OMIM:615510
29926	GMPPA	HP:0020049	Exodeviation	2/2	OMIM:615510
29926	GMPPA	HP:0002376	Developmental regression	HP:0040283	ORPHA:869
29926	GMPPA	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:869
29926	GMPPA	HP:0003623	Neonatal onset	2/2	OMIM:615510
29926	GMPPA	HP:0000639	Nystagmus	2/11	OMIM:615510
29926	GMPPA	HP:0000648	Optic atrophy	HP:0040283	ORPHA:869
29926	GMPPA	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:869
29926	GMPPA	HP:0000666	Horizontal nystagmus	2/2	OMIM:615510
29926	GMPPA	HP:0004322	Short stature	HP:0040282	ORPHA:869
29926	GMPPA	HP:0004319	Decreased circulating aldosterone concentration	HP:0040284	ORPHA:869
29926	GMPPA	HP:0012735	Cough	HP:0040282	ORPHA:869
29926	GMPPA	HP:0000750	Delayed speech and language development	11/11	OMIM:615510
29926	GMPPA	HP:0003154	Increased circulating ACTH level	HP:0040282	ORPHA:869
29926	GMPPA	HP:0000846	Adrenal insufficiency	0/13	OMIM:615510
29926	GMPPA	HP:0000846	Adrenal insufficiency	HP:0040281	ORPHA:869
29926	GMPPA	HP:0012804	Corneal ulceration	HP:0040283	ORPHA:869
29926	GMPPA	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:869
29926	GMPPA	HP:0000966	Hypohidrosis	3/11	OMIM:615510
29926	GMPPA	HP:0000962	Hyperkeratosis	3/11	OMIM:615510
29926	GMPPA	HP:0000252	Microcephaly	HP:0040283	ORPHA:869
29926	GMPPA	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:869
29926	GMPPA	HP:0001611	Hypernasal speech	4/12	OMIM:615510
29926	GMPPA	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:869
29926	GMPPA	HP:0000365	Hearing impairment	4/12	OMIM:615510
29926	GMPPA	HP:0000322	Short philtrum	2/2	OMIM:615510
29926	GMPPA	HP:0000325	Triangular face	2/2	OMIM:615510
29926	GMPPA	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:869
29926	GMPPA	HP:0000486	Strabismus	3/11	OMIM:615510
29926	GMPPA	HP:0000448	Prominent nose	2/2	OMIM:615510
29926	GMPPA	HP:0001761	Pes cavus	HP:0040283	ORPHA:869
29926	GMPPA	HP:0000522	Alacrima	15/15	OMIM:615510
29926	GMPPA	HP:0000522	Alacrima	HP:0040281	ORPHA:869
29926	GMPPA	HP:0001824	Weight loss	HP:0040282	ORPHA:869
29926	GMPPA	HP:0000508	Ptosis	1/8	OMIM:615510
29926	GMPPA	HP:0000505	Visual impairment	HP:0040283	ORPHA:869
29927	SEC61A1	HP:0003774	Stage 5 chronic kidney disease	1/6	OMIM:617056
29927	SEC61A1	HP:0032299	Increased circulating IgG2 level	1/1	OMIM:620674
29927	SEC61A1	HP:0032218	Decreased proportion of CD4-positive T cells	1/6	OMIM:617056
29927	SEC61A1	HP:0034886	Decreased urinary uromodulin level	2/2	OMIM:617056
29927	SEC61A1	HP:0100806	Sepsis	1/1	OMIM:620674
29927	SEC61A1	HP:0100806	Sepsis	1/11	OMIM:620670
29927	SEC61A1	HP:0100838	Recurrent cutaneous abscess formation	2/2	OMIM:617056
29927	SEC61A1	HP:0002572	Episodic vomiting	1/1	OMIM:617056
29927	SEC61A1	HP:0410299	Decreased specific antibody response to polysaccharide vaccine	9/9	OMIM:620670
29927	SEC61A1	HP:0410297	Partial absence of specific antibody response to tetanus vaccine	4/6	OMIM:620670
29927	SEC61A1	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	1/5	OMIM:620670
29927	SEC61A1	HP:0410302	Decreased specific antibody response to protein-conjugated polysaccharide vaccine	10/11	OMIM:620670
29927	SEC61A1	HP:0033606	Bone marrow maturation arrest	1/1	OMIM:620674
29927	SEC61A1	HP:0000089	Renal hypoplasia	1/1	OMIM:620674
29927	SEC61A1	HP:0000097	Focal segmental glomerulosclerosis	1/1	OMIM:617056
29927	SEC61A1	HP:0000093	Proteinuria	0/3	OMIM:617056
29927	SEC61A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620674
29927	SEC61A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620670
29927	SEC61A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617056
29927	SEC61A1	HP:0002783	Recurrent lower respiratory tract infections	5/5	OMIM:620670
29927	SEC61A1	HP:0000110	Renal dysplasia	1/1	OMIM:617056
29927	SEC61A1	HP:0000112	Nephropathy	5/5	OMIM:617056
29927	SEC61A1	HP:0000107	Renal cyst	1/6	OMIM:617056
29927	SEC61A1	HP:0002719	Recurrent infections	2/6	OMIM:617056
29927	SEC61A1	HP:0002720	Decreased circulating IgA concentration	8/11	OMIM:620670
29927	SEC61A1	HP:0002090	Pneumonia	1/1	OMIM:620674
29927	SEC61A1	HP:0002153	Hyperkalemia	2/6	OMIM:617056
29927	SEC61A1	HP:0002149	Hyperuricemia	3/6	OMIM:617056
29927	SEC61A1	HP:0002149	Hyperuricemia	1/1	OMIM:620674
29927	SEC61A1	HP:0011919	Pleural empyema	1/1	OMIM:620674
29927	SEC61A1	HP:0004719	Hyperechogenic kidneys	1/1	OMIM:617056
29927	SEC61A1	HP:0004732	Impaired renal uric acid clearance	0/2	OMIM:617056
29927	SEC61A1	HP:0004727	Impaired renal concentrating ability	1/1	OMIM:617056
29927	SEC61A1	HP:0003593	Infantile onset	1/1	OMIM:620674
29927	SEC61A1	HP:0003593	Infantile onset	4/10	OMIM:620670
29927	SEC61A1	HP:0003593	Infantile onset	1/1	OMIM:617056
29927	SEC61A1	HP:0003584	Late onset	1/3	OMIM:617056
29927	SEC61A1	HP:0001058	Poor wound healing	1/1	OMIM:620674
29927	SEC61A1	HP:0003676	Progressive	-	OMIM:617056
29927	SEC61A1	HP:0200043	Verrucae	1/1	OMIM:620674
29927	SEC61A1	HP:0020132	Thickening of the tubular basement membrane	1/1	OMIM:617056
29927	SEC61A1	HP:0032128	Increased proportion of plasmablasts	1/1	OMIM:620674
29927	SEC61A1	HP:0032154	Aphthous ulcer	1/1	OMIM:620674
29927	SEC61A1	HP:0009789	Perianal abscess	1/1	OMIM:620674
29927	SEC61A1	HP:0003623	Neonatal onset	1/3	OMIM:617056
29927	SEC61A1	HP:0003621	Juvenile onset	2/10	OMIM:620670
29927	SEC61A1	HP:0003621	Juvenile onset	1/3	OMIM:617056
29927	SEC61A1	HP:0012622	Chronic kidney disease	5/5	OMIM:617056
29927	SEC61A1	HP:0012606	Renal sodium wasting	0/2	OMIM:617056
29927	SEC61A1	HP:0001903	Anemia	1/1	OMIM:620674
29927	SEC61A1	HP:0001903	Anemia	0/5	OMIM:620670
29927	SEC61A1	HP:0001903	Anemia	1/1	OMIM:617056
29927	SEC61A1	HP:0001919	Acute kidney injury	1/6	OMIM:617056
29927	SEC61A1	HP:0011342	Mild global developmental delay	1/6	OMIM:617056
29927	SEC61A1	HP:0001997	Gout	2/6	OMIM:617056
29927	SEC61A1	HP:0004322	Short stature	2/4	OMIM:617056
29927	SEC61A1	HP:0004315	Decreased circulating IgG concentration	10/11	OMIM:620670
29927	SEC61A1	HP:0011463	Childhood onset	4/10	OMIM:620670
29927	SEC61A1	HP:0011463	Childhood onset	2/4	OMIM:617056
29927	SEC61A1	HP:0011462	Young adult onset	1/4	OMIM:617056
29927	SEC61A1	HP:0000790	Hematuria	0/2	OMIM:617056
29927	SEC61A1	HP:0034284	Recurrent gingivitis	1/1	OMIM:620674
29927	SEC61A1	HP:0003165	Elevated circulating parathyroid hormone level	1/1	OMIM:617056
29927	SEC61A1	HP:0003138	Increased blood urea nitrogen	2/6	OMIM:617056
29927	SEC61A1	HP:0000822	Hypertension	0/5	OMIM:617056
29927	SEC61A1	HP:0040084	Abnormal circulating renin concentration	0/2	OMIM:617056
29927	SEC61A1	HP:0040085	Abnormal circulating aldosterone concentration	0/2	OMIM:617056
29927	SEC61A1	HP:0030880	Raynaud phenomenon	2/11	OMIM:620670
29927	SEC61A1	HP:0003261	Increased circulating IgA concentration	1/1	OMIM:620674
29927	SEC61A1	HP:0003259	Elevated circulating creatinine concentration	6/6	OMIM:617056
29927	SEC61A1	HP:0003259	Elevated circulating creatinine concentration	0/5	OMIM:620670
29927	SEC61A1	HP:0000278	Retrognathia	1/6	OMIM:617056
29927	SEC61A1	HP:0012213	Decreased glomerular filtration rate	2/2	OMIM:617056
29927	SEC61A1	HP:0001562	Oligohydramnios	1/6	OMIM:617056
29927	SEC61A1	HP:0000230	Gingivitis	1/1	OMIM:620674
29927	SEC61A1	HP:0002837	Recurrent bronchitis	1/11	OMIM:620670
29927	SEC61A1	HP:0002850	Decreased circulating total IgM	7/11	OMIM:620670
29927	SEC61A1	HP:0001518	Small for gestational age	6/6	OMIM:617056
29927	SEC61A1	HP:0001511	Intrauterine growth retardation	-	OMIM:617056
29927	SEC61A1	HP:0005215	Frequent Giardia lamblia infestation	1/11	OMIM:620670
29927	SEC61A1	HP:0012311	Increased total monocyte count	1/1	OMIM:620674
29927	SEC61A1	HP:0000325	Triangular face	1/6	OMIM:617056
29927	SEC61A1	HP:0000403	Recurrent otitis media	1/1	OMIM:620674
29927	SEC61A1	HP:0000403	Recurrent otitis media	6/11	OMIM:620670
29927	SEC61A1	HP:0012450	Chronic constipation	1/6	OMIM:617056
29927	SEC61A1	HP:0011108	Recurrent sinusitis	1/1	OMIM:620674
29927	SEC61A1	HP:0011108	Recurrent sinusitis	2/11	OMIM:620670
29927	SEC61A1	HP:0011107	Recurrent aphthous stomatitis	1/1	OMIM:620674
29927	SEC61A1	HP:0011110	Recurrent tonsillitis	1/1	OMIM:620674
29927	SEC61A1	HP:0011110	Recurrent tonsillitis	1/11	OMIM:620670
29927	SEC61A1	HP:0001882	Decreased total leukocyte count	2/5	OMIM:617056
29927	SEC61A1	HP:0001873	Thrombocytopenia	1/1	OMIM:620674
29927	SEC61A1	HP:0001875	Decreased total neutrophil count	1/1	OMIM:620674
29927	SEC61A1	HP:0001875	Decreased total neutrophil count	2/6	OMIM:617056
29928	TIMM22	HP:0002587	Projectile vomiting	1/1	OMIM:618851
29928	TIMM22	HP:0008807	Acetabular dysplasia	1/1	OMIM:618851
29928	TIMM22	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:618851
29928	TIMM22	HP:0000007	Autosomal recessive inheritance	-	OMIM:618851
29928	TIMM22	HP:0001319	Neonatal hypotonia	1/1	OMIM:618851
29928	TIMM22	HP:0002020	Gastroesophageal reflux	1/1	OMIM:618851
29928	TIMM22	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:618851
29928	TIMM22	HP:0011924	Decreased activity of mitochondrial complex III	1/1	OMIM:618851
29928	TIMM22	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:618851
29928	TIMM22	HP:0002188	Delayed CNS myelination	1/1	OMIM:618851
29928	TIMM22	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:618851
29928	TIMM22	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:618851
29928	TIMM22	HP:0001518	Small for gestational age	1/1	OMIM:618851
29928	TIMM22	HP:0001511	Intrauterine growth retardation	1/1	OMIM:618851
29929	ALG6	HP:0001156	Brachydactyly	HP:0040284	ORPHA:79320
29929	ALG6	HP:0001284	Areflexia	1/1	OMIM:603147
29929	ALG6	HP:0001250	Seizure	1/1	OMIM:603147
29929	ALG6	HP:0001250	Seizure	HP:0040282	ORPHA:79320
29929	ALG6	HP:0001252	Hypotonia	1/1	OMIM:603147
29929	ALG6	HP:0001252	Hypotonia	HP:0040282	ORPHA:79320
29929	ALG6	HP:0001251	Ataxia	HP:0040282	ORPHA:79320
29929	ALG6	HP:0001251	Ataxia	-	OMIM:603147
29929	ALG6	HP:0001263	Global developmental delay	11/11	OMIM:603147
29929	ALG6	HP:0006118	Shortening of all distal phalanges of the fingers	HP:0040283	ORPHA:79320
29929	ALG6	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:79320
29929	ALG6	HP:0000007	Autosomal recessive inheritance	-	OMIM:603147
29929	ALG6	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:79320
29929	ALG6	HP:0002650	Scoliosis	HP:0040283	ORPHA:79320
29929	ALG6	HP:0001321	Cerebellar hypoplasia	HP:0040284	ORPHA:79320
29929	ALG6	HP:0002625	Deep venous thrombosis	HP:0040284	ORPHA:79320
29929	ALG6	HP:0000158	Macroglossia	HP:0040283	ORPHA:79320
29929	ALG6	HP:0008936	Axial hypotonia	-	OMIM:603147
29929	ALG6	HP:0008150	Elevated serum transaminases during infections	-	OMIM:603147
29929	ALG6	HP:0002243	Protein-losing enteropathy	HP:0040283	ORPHA:79320
29929	ALG6	HP:0003563	Decreased LDL cholesterol concentration	HP:0040284	ORPHA:79320
29929	ALG6	HP:0004855	Reduced protein S activity	HP:0040283	ORPHA:79320
29929	ALG6	HP:0008373	Puberty and gonadal disorders	HP:0040284	ORPHA:79320
29929	ALG6	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:79320
29929	ALG6	HP:0003642	Type I transferrin isoform profile	1/1	OMIM:603147
29929	ALG6	HP:0003642	Type I transferrin isoform profile	HP:0040283	ORPHA:79320
29929	ALG6	HP:0003621	Juvenile onset	1/1	OMIM:603147
29929	ALG6	HP:0005543	Reduced protein C activity	HP:0040283	ORPHA:79320
29929	ALG6	HP:0001976	Reduced antithrombin III activity	-	OMIM:603147
29929	ALG6	HP:0001929	Reduced factor XI activity	-	OMIM:603147
29929	ALG6	HP:0001929	Reduced factor XI activity	HP:0040283	ORPHA:79320
29929	ALG6	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:79320
29929	ALG6	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:79320
29929	ALG6	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:79320
29929	ALG6	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:79320
29929	ALG6	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:79320
29929	ALG6	HP:0040246	Reduced antithrombin antigen	HP:0040283	ORPHA:79320
29929	ALG6	HP:0003256	Abnormality of the coagulation cascade	HP:0040283	ORPHA:79320
29929	ALG6	HP:0000952	Jaundice	HP:0040283	ORPHA:79320
29929	ALG6	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79320
29929	ALG6	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040280	ORPHA:79320
29929	ALG6	HP:0000369	Low-set ears	HP:0040283	ORPHA:79320
29929	ALG6	HP:0000316	Hypertelorism	HP:0040283	ORPHA:79320
29929	ALG6	HP:0000486	Strabismus	HP:0040283	ORPHA:79320
29929	ALG6	HP:0000486	Strabismus	-	OMIM:603147
29929	ALG6	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:79320
29929	ALG6	HP:0030348	Increased circulating androgen concentration	HP:0040284	ORPHA:79320
29929	ALG6	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:79320
29940	DSE	HP:0001182	Tapered finger	HP:0040282	ORPHA:2953
29940	DSE	HP:0001181	Adducted thumb	1/1	OMIM:615539
29940	DSE	HP:0001166	Arachnodactyly	1/1	OMIM:615539
29940	DSE	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
29940	DSE	HP:0001293	Cranial nerve compression	-	OMIM:131300
29940	DSE	HP:0001252	Hypotonia	2/7	OMIM:615777
29940	DSE	HP:0001249	Intellectual disability	0/1	OMIM:615539
29940	DSE	HP:0001249	Intellectual disability	5/7	OMIM:615777
29940	DSE	HP:0001263	Global developmental delay	-	OMIM:615777
29940	DSE	HP:0001238	Slender finger	HP:0040281	ORPHA:2953
29940	DSE	HP:0002515	Waddling gait	54/102	OMIM:131300
29940	DSE	HP:0000085	Horseshoe kidney	HP:0040284	ORPHA:2953
29940	DSE	HP:0001382	Joint hypermobility	-	OMIM:615777
29940	DSE	HP:0001382	Joint hypermobility	1/1	OMIM:615539
29940	DSE	HP:0000023	Inguinal hernia	HP:0040284	ORPHA:2953
29940	DSE	HP:0000023	Inguinal hernia	1/1	OMIM:615539
29940	DSE	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:2953
29940	DSE	HP:0002694	Sclerosis of skull base	-	OMIM:131300
29940	DSE	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2953
29940	DSE	HP:0008897	Postnatal growth retardation	-	OMIM:615777
29940	DSE	HP:0006184	Decreased palmar creases	HP:0040281	ORPHA:2953
29940	DSE	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
29940	DSE	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2953
29940	DSE	HP:0001324	Muscle weakness	40/96	OMIM:131300
29940	DSE	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
29940	DSE	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
29940	DSE	HP:0000007	Autosomal recessive inheritance	-	OMIM:615539
29940	DSE	HP:0000009	Functional abnormality of the bladder	HP:0040283	ORPHA:2953
29940	DSE	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
29940	DSE	HP:0002650	Scoliosis	HP:0040281	ORPHA:2953
29940	DSE	HP:0002650	Scoliosis	12/14	OMIM:131300
29940	DSE	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
29940	DSE	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
29940	DSE	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
29940	DSE	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
29940	DSE	HP:0000160	Narrow mouth	HP:0040281	ORPHA:2953
29940	DSE	HP:0000160	Narrow mouth	-	OMIM:615539
29940	DSE	HP:0000175	Cleft palate	HP:0040283	ORPHA:2953
29940	DSE	HP:0000175	Cleft palate	2/7	OMIM:615777
29940	DSE	HP:0410030	Cleft lip	HP:0040283	ORPHA:2953
29940	DSE	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2953
29940	DSE	HP:0002761	Generalized joint hypermobility	HP:0040281	ORPHA:2953
29940	DSE	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:2953
29940	DSE	HP:0002019	Constipation	HP:0040282	ORPHA:2953
29940	DSE	HP:0003326	Myalgia	-	OMIM:615539
29940	DSE	HP:0002007	Frontal bossing	1/1	OMIM:615539
29940	DSE	HP:0003324	Generalized muscle weakness	1/1	OMIM:615539
29940	DSE	HP:0003319	Abnormality of the cervical spine	HP:0040281	ORPHA:2953
29940	DSE	HP:0011800	Midface retrusion	-	OMIM:615539
29940	DSE	HP:0002059	Cerebral atrophy	-	OMIM:615539
29940	DSE	HP:0003388	Easy fatigability	36/76	OMIM:131300
29940	DSE	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
29940	DSE	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:2953
29940	DSE	HP:0004794	Malrotation of small bowel	HP:0040284	ORPHA:2953
29940	DSE	HP:0002107	Pneumothorax	HP:0040283	ORPHA:2953
29940	DSE	HP:0003414	Atlantoaxial dislocation	HP:0040283	ORPHA:2953
29940	DSE	HP:0002194	Delayed gross motor development	HP:0040281	ORPHA:2953
29940	DSE	HP:0002194	Delayed gross motor development	1/1	OMIM:615539
29940	DSE	HP:0003577	Congenital onset	1/1	OMIM:615539
29940	DSE	HP:0430043	Thoracic lordosis	HP:0040282	ORPHA:2953
29940	DSE	HP:0003510	Severe short stature	7/7	OMIM:615777
29940	DSE	HP:0001058	Poor wound healing	1/1	OMIM:615539
29940	DSE	HP:0002315	Headache	-	OMIM:131300
29940	DSE	HP:0004976	Knee dislocation	6/7	OMIM:615777
29940	DSE	HP:0001075	Atrophic scars	HP:0040281	ORPHA:2953
29940	DSE	HP:0001075	Atrophic scars	1/1	OMIM:615539
29940	DSE	HP:0009803	Short phalanx of finger	-	OMIM:615777
29940	DSE	HP:0009763	Limb pain	63/92	OMIM:131300
29940	DSE	HP:0003621	Juvenile onset	-	OMIM:131300
29940	DSE	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
29940	DSE	HP:0031869	Recurrent joint dislocation	HP:0040281	ORPHA:2953
29940	DSE	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
29940	DSE	HP:6001056	Out-toeing	-	OMIM:131300
29940	DSE	HP:0000651	Diplopia	-	OMIM:131300
29940	DSE	HP:0001956	Truncal obesity	2/7	OMIM:615777
29940	DSE	HP:0001933	Subcutaneous hemorrhage	HP:0040281	ORPHA:2953
29940	DSE	HP:0001903	Anemia	HP:0040283	OMIM:131300
29940	DSE	HP:0010049	Short metacarpal	-	OMIM:615777
29940	DSE	HP:0000678	Dental crowding	-	OMIM:615777
29940	DSE	HP:0000678	Dental crowding	1/1	OMIM:615539
29940	DSE	HP:0000670	Carious teeth	-	OMIM:131300
29940	DSE	HP:0011304	Broad thumb	2/7	OMIM:615777
29940	DSE	HP:0000668	Hypodontia	-	OMIM:615777
29940	DSE	HP:0000664	Synophrys	-	OMIM:615777
29940	DSE	HP:0004396	Poor appetite	-	OMIM:131300
29940	DSE	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
29940	DSE	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
29940	DSE	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
29940	DSE	HP:0003026	Short long bone	7/7	OMIM:615777
29940	DSE	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
29940	DSE	HP:0100016	Abnormal mesentery morphology	HP:0040283	ORPHA:2953
29940	DSE	HP:0000767	Pectus excavatum	2/7	OMIM:615777
29940	DSE	HP:0000766	Abnormal sternum morphology	HP:0040281	ORPHA:2953
29940	DSE	HP:0000768	Pectus carinatum	1/7	OMIM:615777
29940	DSE	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
29940	DSE	HP:0000750	Delayed speech and language development	-	OMIM:615777
29940	DSE	HP:0011461	Fetal onset	7/7	OMIM:615777
29940	DSE	HP:0000774	Narrow chest	2/7	OMIM:615777
29940	DSE	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:2953
29940	DSE	HP:0003198	Myopathy	HP:0040282	ORPHA:2953
29940	DSE	HP:0003199	Decreased muscle mass	HP:0040281	ORPHA:2953
29940	DSE	HP:0003196	Short nose	HP:0040281	ORPHA:2953
29940	DSE	HP:0003196	Short nose	-	OMIM:615539
29940	DSE	HP:0000926	Platyspondyly	1/7	OMIM:615777
29940	DSE	HP:0003180	Flat acetabular roof	-	OMIM:615777
29940	DSE	HP:0004482	Relative macrocephaly	-	OMIM:615777
29940	DSE	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
29940	DSE	HP:0004474	Persistent open anterior fontanelle	1/1	OMIM:615539
29940	DSE	HP:0000823	Delayed puberty	-	OMIM:131300
29940	DSE	HP:0000894	Short clavicles	-	OMIM:615777
29940	DSE	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
29940	DSE	HP:0000978	Bruising susceptibility	HP:0040281	ORPHA:2953
29940	DSE	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:2953
29940	DSE	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
29940	DSE	HP:0000286	Epicanthus	1/7	OMIM:615777
29940	DSE	HP:0000280	Coarse facial features	2/7	OMIM:615777
29940	DSE	HP:0000297	Facial hypotonia	-	OMIM:615539
29940	DSE	HP:0002829	Arthralgia	-	OMIM:615539
29940	DSE	HP:0002827	Hip dislocation	3/7	OMIM:615777
29940	DSE	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:2953
29940	DSE	HP:0000239	Large fontanelles	HP:0040281	ORPHA:2953
29940	DSE	HP:0000252	Microcephaly	-	OMIM:615777
29940	DSE	HP:0001582	Redundant skin	HP:0040282	ORPHA:2953
29940	DSE	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:2953
29940	DSE	HP:0000248	Brachycephaly	11/11	OMIM:615539
29940	DSE	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2953
29940	DSE	HP:0000218	High palate	HP:0040281	ORPHA:2953
29940	DSE	HP:0000218	High palate	1/1	OMIM:615539
29940	DSE	HP:0002857	Genu valgum	-	OMIM:131300
29940	DSE	HP:0001533	Slender build	-	OMIM:131300
29940	DSE	HP:0001519	Disproportionate tall stature	HP:0040281	ORPHA:2953
29940	DSE	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
29940	DSE	HP:0007807	Optic nerve compression	-	OMIM:131300
29940	DSE	HP:0012385	Camptodactyly	-	OMIM:615539
29940	DSE	HP:0012368	Flat face	7/7	OMIM:615777
29940	DSE	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:2953
29940	DSE	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
29940	DSE	HP:0002947	Cervical kyphosis	HP:0040282	ORPHA:2953
29940	DSE	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2953
29940	DSE	HP:0000365	Hearing impairment	10/67	OMIM:131300
29940	DSE	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:2953
29940	DSE	HP:0000343	Long philtrum	HP:0040281	ORPHA:2953
29940	DSE	HP:0000343	Long philtrum	1/7	OMIM:615777
29940	DSE	HP:0000343	Long philtrum	-	OMIM:615539
29940	DSE	HP:0011001	Increased bone mineral density	-	OMIM:131300
29940	DSE	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2953
29940	DSE	HP:0000316	Hypertelorism	-	OMIM:615539
29940	DSE	HP:0000311	Round face	2/7	OMIM:615777
29940	DSE	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:2953
29940	DSE	HP:0001653	Mitral regurgitation	-	OMIM:615539
29940	DSE	HP:0001655	Patent foramen ovale	1/1	OMIM:615539
29940	DSE	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2953
29940	DSE	HP:0002970	Genu varum	-	OMIM:615777
29940	DSE	HP:0000308	Microretrognathia	HP:0040282	ORPHA:2953
29940	DSE	HP:0000303	Mandibular prognathia	-	OMIM:131300
29940	DSE	HP:0001634	Mitral valve prolapse	-	OMIM:615539
29940	DSE	HP:0007906	Ocular hypertension	HP:0040282	ORPHA:2953
29940	DSE	HP:0000400	Macrotia	HP:0040281	ORPHA:2953
29940	DSE	HP:0005272	Prominent nasolabial fold	HP:0040281	ORPHA:2953
29940	DSE	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
29940	DSE	HP:0000483	Astigmatism	HP:0040282	ORPHA:2953
29940	DSE	HP:0000486	Strabismus	HP:0040282	ORPHA:2953
29940	DSE	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:2953
29940	DSE	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:615539
29940	DSE	HP:0000470	Short neck	1/7	OMIM:615777
29940	DSE	HP:0001769	Broad foot	HP:0040283	OMIM:615777
29940	DSE	HP:0001763	Pes planus	1/7	OMIM:615777
29940	DSE	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:615539
29940	DSE	HP:0000411	Protruding ear	HP:0040281	ORPHA:2953
29940	DSE	HP:0000411	Protruding ear	1/1	OMIM:615539
29940	DSE	HP:0001762	Talipes equinovarus	-	OMIM:615539
29940	DSE	HP:0001840	Metatarsus adductus	-	OMIM:615777
29940	DSE	HP:0000520	Proptosis	2/4	OMIM:131300
29940	DSE	HP:0000520	Proptosis	7/7	OMIM:615777
29940	DSE	HP:0000506	Telecanthus	1/1	OMIM:615539
29940	DSE	HP:0000501	Glaucoma	HP:0040283	ORPHA:2953
29940	DSE	HP:0000592	Blue sclerae	HP:0040281	ORPHA:2953
29940	DSE	HP:0000592	Blue sclerae	2/7	OMIM:615777
29940	DSE	HP:0000592	Blue sclerae	1/1	OMIM:615539
29940	DSE	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:2953
29940	DSE	HP:0012534	Dysesthesia	HP:0040281	ORPHA:2953
29940	DSE	HP:0000541	Retinal detachment	HP:0040282	ORPHA:2953
29940	DSE	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
29940	DSE	HP:0012514	Lower limb pain	4/4	OMIM:131300
29940	DSE	HP:0000545	Myopia	HP:0040282	ORPHA:2953
29954	POMT2	HP:0002465	Poor speech	HP:0040283	ORPHA:370968
29954	POMT2	HP:0002438	Cerebellar malformation	-	OMIM:236670
29954	POMT2	HP:0002435	Meningocele	HP:0040283	ORPHA:588
29954	POMT2	HP:0001105	Retinal atrophy	-	OMIM:236670
29954	POMT2	HP:0009917	Persistent pupillary membrane	1/3	OMIM:613150
29954	POMT2	HP:0025169	Left ventricular systolic dysfunction	HP:0040283	OMIM:613156
29954	POMT2	HP:0025169	Left ventricular systolic dysfunction	HP:0040283	ORPHA:206559
29954	POMT2	HP:0007260	Type II lissencephaly	HP:0040282	ORPHA:370959
29954	POMT2	HP:0007260	Type II lissencephaly	2/2	OMIM:613150
29954	POMT2	HP:0007260	Type II lissencephaly	31/31	OMIM:236670
29954	POMT2	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:370959
29954	POMT2	HP:0010864	Intellectual disability, severe	-	OMIM:236670
29954	POMT2	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:370968
29954	POMT2	HP:0010864	Intellectual disability, severe	-	OMIM:613150
29954	POMT2	HP:0010864	Intellectual disability, severe	4/4	OMIM:613156
29954	POMT2	HP:0008551	Microtia	-	OMIM:236670
29954	POMT2	HP:0003707	Calf muscle pseudohypertrophy	HP:0040282	ORPHA:370959
29954	POMT2	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:370959
29954	POMT2	HP:0003701	Proximal muscle weakness	-	OMIM:613156
29954	POMT2	HP:0003701	Proximal muscle weakness	1/1	OMIM:613158
29954	POMT2	HP:0003712	Skeletal muscle hypertrophy	HP:0040282	ORPHA:370959
29954	POMT2	HP:0003712	Skeletal muscle hypertrophy	HP:0040283	ORPHA:370968
29954	POMT2	HP:0003712	Skeletal muscle hypertrophy	-	OMIM:613150
29954	POMT2	HP:0003712	Skeletal muscle hypertrophy	-	OMIM:613156
29954	POMT2	HP:0003712	Skeletal muscle hypertrophy	1/1	OMIM:613158
29954	POMT2	HP:0007291	Posterior fossa cyst	-	OMIM:236670
29954	POMT2	HP:0001290	Generalized hypotonia	-	OMIM:613156
29954	POMT2	HP:0001276	Hypertonia	HP:0040282	ORPHA:588
29954	POMT2	HP:0001274	Agenesis of corpus callosum	-	OMIM:236670
29954	POMT2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:899
29954	POMT2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:370959
29954	POMT2	HP:0001274	Agenesis of corpus callosum	1/3	OMIM:613150
29954	POMT2	HP:0001270	Motor delay	HP:0040282	ORPHA:370968
29954	POMT2	HP:0001270	Motor delay	-	OMIM:613156
29954	POMT2	HP:0001270	Motor delay	-	OMIM:613158
29954	POMT2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:588
29954	POMT2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:206559
29954	POMT2	HP:0001284	Areflexia	HP:0040281	ORPHA:899
29954	POMT2	HP:0001284	Areflexia	-	OMIM:613156
29954	POMT2	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:370959
29954	POMT2	HP:0001250	Seizure	HP:0040283	ORPHA:370959
29954	POMT2	HP:0001250	Seizure	HP:0040282	ORPHA:588
29954	POMT2	HP:0001250	Seizure	2/2	OMIM:236670
29954	POMT2	HP:0001250	Seizure	HP:0040283	ORPHA:899
29954	POMT2	HP:0001250	Seizure	-	OMIM:613150
29954	POMT2	HP:0001252	Hypotonia	HP:0040282	ORPHA:588
29954	POMT2	HP:0001252	Hypotonia	-	OMIM:236670
29954	POMT2	HP:0001252	Hypotonia	HP:0040281	ORPHA:899
29954	POMT2	HP:0001252	Hypotonia	4/4	OMIM:613156
29954	POMT2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:370968
29954	POMT2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:899
29954	POMT2	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:899
29954	POMT2	HP:0001265	Hyporeflexia	-	OMIM:613156
29954	POMT2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:370968
29954	POMT2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:370959
29954	POMT2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:206559
29954	POMT2	HP:0001263	Global developmental delay	1/1	OMIM:236670
29954	POMT2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:899
29954	POMT2	HP:0001262	Excessive daytime somnolence	-	OMIM:236670
29954	POMT2	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:899
29954	POMT2	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:588
29954	POMT2	HP:0007361	Abnormal pons morphology	HP:0040283	ORPHA:370968
29954	POMT2	HP:0002540	Inability to walk	4/4	OMIM:613156
29954	POMT2	HP:0002540	Inability to walk	HP:0040283	ORPHA:206559
29954	POMT2	HP:0002536	Abnormal cortical gyration	HP:0040281	ORPHA:899
29954	POMT2	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:370968
29954	POMT2	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:370968
29954	POMT2	HP:0001371	Flexion contracture	-	OMIM:613156
29954	POMT2	HP:0000054	Micropenis	HP:0040283	ORPHA:370968
29954	POMT2	HP:0000054	Micropenis	-	OMIM:613156
29954	POMT2	HP:0000050	Hypoplastic male external genitalia	-	OMIM:236670
29954	POMT2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:370959
29954	POMT2	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:588
29954	POMT2	HP:0000028	Cryptorchidism	1/1	OMIM:236670
29954	POMT2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:370968
29954	POMT2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:899
29954	POMT2	HP:0000028	Cryptorchidism	-	OMIM:613156
29954	POMT2	HP:0008872	Feeding difficulties in infancy	2/2	OMIM:236670
29954	POMT2	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:899
29954	POMT2	HP:0001328	Specific learning disability	HP:0040281	ORPHA:899
29954	POMT2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:206559
29954	POMT2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:899
29954	POMT2	HP:0001344	Absent speech	1/1	OMIM:236670
29954	POMT2	HP:0001339	Lissencephaly	HP:0040281	ORPHA:899
29954	POMT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613150
29954	POMT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613156
29954	POMT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613158
29954	POMT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:236670
29954	POMT2	HP:0001305	Dandy-Walker malformation	2/2	OMIM:236670
29954	POMT2	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:899
29954	POMT2	HP:0001302	Pachygyria	-	OMIM:236670
29954	POMT2	HP:0001302	Pachygyria	HP:0040281	ORPHA:899
29954	POMT2	HP:0001302	Pachygyria	-	OMIM:613150
29954	POMT2	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:370968
29954	POMT2	HP:0001320	Cerebellar vermis hypoplasia	4/4	OMIM:613156
29954	POMT2	HP:0002650	Scoliosis	HP:0040283	ORPHA:370968
29954	POMT2	HP:0002650	Scoliosis	-	OMIM:613150
29954	POMT2	HP:0002650	Scoliosis	-	OMIM:613156
29954	POMT2	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:236670
29954	POMT2	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:899
29954	POMT2	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:370968
29954	POMT2	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:370959
29954	POMT2	HP:0001321	Cerebellar hypoplasia	1/3	OMIM:613150
29954	POMT2	HP:0001321	Cerebellar hypoplasia	-	OMIM:613156
29954	POMT2	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:370959
29954	POMT2	HP:0001319	Neonatal hypotonia	1/1	OMIM:236670
29954	POMT2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:370968
29954	POMT2	HP:0000194	Open mouth	-	OMIM:613156
29954	POMT2	HP:0000193	Bifid uvula	HP:0040283	ORPHA:899
29954	POMT2	HP:0000158	Macroglossia	HP:0040282	ORPHA:370959
29954	POMT2	HP:0000158	Macroglossia	-	OMIM:613150
29954	POMT2	HP:0000158	Macroglossia	-	OMIM:613156
29954	POMT2	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:899
29954	POMT2	HP:0000175	Cleft palate	-	OMIM:236670
29954	POMT2	HP:0000175	Cleft palate	HP:0040283	ORPHA:899
29954	POMT2	HP:0000175	Cleft palate	1/3	OMIM:613150
29954	POMT2	HP:0008981	Calf muscle hypertrophy	HP:0040282	ORPHA:370968
29954	POMT2	HP:0008981	Calf muscle hypertrophy	HP:0040283	ORPHA:206559
29954	POMT2	HP:0008947	Floppy infant	HP:0040281	ORPHA:370968
29954	POMT2	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:370959
29954	POMT2	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	HP:0040281	ORPHA:899
29954	POMT2	HP:0000110	Renal dysplasia	-	OMIM:236670
29954	POMT2	HP:0002023	Anal atresia	-	OMIM:236670
29954	POMT2	HP:0003327	Axial muscle weakness	HP:0040283	ORPHA:370968
29954	POMT2	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:370968
29954	POMT2	HP:0003307	Hyperlordosis	-	OMIM:613156
29954	POMT2	HP:0004637	Decreased cervical spine mobility	HP:0040283	ORPHA:370968
29954	POMT2	HP:0003306	Spinal rigidity	-	OMIM:613150
29954	POMT2	HP:0003324	Generalized muscle weakness	14/14	OMIM:613156
29954	POMT2	HP:0002085	Occipital encephalocele	HP:0040283	ORPHA:370959
29954	POMT2	HP:0002085	Occipital encephalocele	-	OMIM:236670
29954	POMT2	HP:0002084	Encephalocele	HP:0040283	OMIM:613150
29954	POMT2	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:588
29954	POMT2	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:206559
29954	POMT2	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:370968
29954	POMT2	HP:0002093	Respiratory insufficiency	-	OMIM:613156
29954	POMT2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:236670
29954	POMT2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:370968
29954	POMT2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:613156
29954	POMT2	HP:0011712	Complete right bundle branch block	1/1	OMIM:613158
29954	POMT2	HP:0011712	Complete right bundle branch block	HP:0040283	ORPHA:206559
29954	POMT2	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:370968
29954	POMT2	HP:0002120	Cerebral cortical atrophy	4/4	OMIM:613156
29954	POMT2	HP:0002119	Ventriculomegaly	-	OMIM:236670
29954	POMT2	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:899
29954	POMT2	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:370968
29954	POMT2	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:370959
29954	POMT2	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:206559
29954	POMT2	HP:0002119	Ventriculomegaly	-	OMIM:613150
29954	POMT2	HP:0002119	Ventriculomegaly	-	OMIM:613156
29954	POMT2	HP:0003457	EMG abnormality	HP:0040281	ORPHA:588
29954	POMT2	HP:0002126	Polymicrogyria	-	OMIM:236670
29954	POMT2	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:899
29954	POMT2	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:370959
29954	POMT2	HP:0002187	Intellectual disability, profound	-	OMIM:236670
29954	POMT2	HP:0002187	Intellectual disability, profound	-	OMIM:613150
29954	POMT2	HP:0002198	Dilated fourth ventricle	HP:0040282	ORPHA:370959
29954	POMT2	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:206559
29954	POMT2	HP:0002169	Clonus	HP:0040283	ORPHA:370959
29954	POMT2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:588
29954	POMT2	HP:0010508	Metatarsus valgus	HP:0040281	ORPHA:899
29954	POMT2	HP:0003593	Infantile onset	-	OMIM:613158
29954	POMT2	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:899
29954	POMT2	HP:0003577	Congenital onset	2/2	OMIM:236670
29954	POMT2	HP:0003577	Congenital onset	3/3	OMIM:613150
29954	POMT2	HP:0003577	Congenital onset	4/4	OMIM:613156
29954	POMT2	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:206559
29954	POMT2	HP:0003549	Abnormality of connective tissue	HP:0040283	ORPHA:370968
29954	POMT2	HP:0003560	Muscular dystrophy	-	OMIM:236670
29954	POMT2	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:899
29954	POMT2	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:370959
29954	POMT2	HP:0003560	Muscular dystrophy	1/1	OMIM:613150
29954	POMT2	HP:0003560	Muscular dystrophy	20/20	OMIM:613156
29954	POMT2	HP:0003560	Muscular dystrophy	-	OMIM:613158
29954	POMT2	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:613150
29954	POMT2	HP:0002282	Gray matter heterotopia	HP:0040282	ORPHA:370959
29954	POMT2	HP:0007033	Cerebellar dysplasia	-	OMIM:613150
29954	POMT2	HP:0007033	Cerebellar dysplasia	-	OMIM:236670
29954	POMT2	HP:0007015	Poor gross motor coordination	HP:0040282	ORPHA:370968
29954	POMT2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:370968
29954	POMT2	HP:0010628	Facial palsy	HP:0040283	ORPHA:370968
29954	POMT2	HP:0010628	Facial palsy	-	OMIM:613156
29954	POMT2	HP:0003697	Scapuloperoneal amyotrophy	HP:0040283	ORPHA:206559
29954	POMT2	HP:0002365	Hypoplasia of the brainstem	1/1	OMIM:236670
29954	POMT2	HP:0002365	Hypoplasia of the brainstem	HP:0040282	ORPHA:370959
29954	POMT2	HP:0002365	Hypoplasia of the brainstem	-	OMIM:613150
29954	POMT2	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:370959
29954	POMT2	HP:0003691	Scapular winging	HP:0040283	ORPHA:206559
29954	POMT2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:588
29954	POMT2	HP:0002350	Cerebellar cyst	HP:0040283	ORPHA:370959
29954	POMT2	HP:0002350	Cerebellar cyst	-	OMIM:613150
29954	POMT2	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040281	ORPHA:899
29954	POMT2	HP:0007204	Diffuse white matter abnormalities	HP:0040282	ORPHA:370959
29954	POMT2	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:206559
29954	POMT2	HP:0008443	Neuropathic spinal arthropathy	HP:0040283	ORPHA:370968
29954	POMT2	HP:0006829	Severe muscular hypotonia	-	OMIM:236670
29954	POMT2	HP:0006829	Severe muscular hypotonia	-	OMIM:613150
29954	POMT2	HP:0031882	Agyria	2/2	OMIM:236670
29954	POMT2	HP:0006899	Fusion of the cerebellar hemispheres	HP:0040283	ORPHA:370959
29954	POMT2	HP:0006888	Meningoencephalocele	1/1	OMIM:236670
29954	POMT2	HP:0000648	Optic atrophy	HP:0040281	ORPHA:588
29954	POMT2	HP:0000648	Optic atrophy	1/2	OMIM:236670
29954	POMT2	HP:0000648	Optic atrophy	HP:0040281	ORPHA:899
29954	POMT2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:370959
29954	POMT2	HP:0000618	Blindness	-	OMIM:236670
29954	POMT2	HP:0000618	Blindness	HP:0040284	ORPHA:370959
29954	POMT2	HP:0000612	Iris coloboma	HP:0040283	ORPHA:899
29954	POMT2	HP:0000609	Optic nerve hypoplasia	-	OMIM:236670
29954	POMT2	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:370959
29954	POMT2	HP:0012695	Decreased thalamic volume	HP:0040283	ORPHA:370959
29954	POMT2	HP:0000659	Peters anomaly	1/3	OMIM:613150
29954	POMT2	HP:0000659	Peters anomaly	-	OMIM:236670
29954	POMT2	HP:0006955	Olivopontocerebellar hypoplasia	HP:0040283	ORPHA:370959
29954	POMT2	HP:0006913	Frontal cortical atrophy	HP:0040283	ORPHA:206559
29954	POMT2	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:588
29954	POMT2	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:588
29954	POMT2	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:370968
29954	POMT2	HP:0012793	Kinked brainstem	1/2	OMIM:236670
29954	POMT2	HP:0011463	Childhood onset	1/1	OMIM:613158
29954	POMT2	HP:0003198	Myopathy	HP:0040281	ORPHA:588
29954	POMT2	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040281	ORPHA:899
29954	POMT2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:588
29954	POMT2	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:236670
29954	POMT2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:370968
29954	POMT2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:370959
29954	POMT2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:206559
29954	POMT2	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:613150
29954	POMT2	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:613156
29954	POMT2	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:613158
29954	POMT2	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:899
29954	POMT2	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040281	ORPHA:899
29954	POMT2	HP:0040173	Abnormality of the tongue muscle	HP:0040283	ORPHA:370968
29954	POMT2	HP:0000298	Mask-like facies	1/1	OMIM:236670
29954	POMT2	HP:0000256	Macrocephaly	HP:0040282	ORPHA:899
29954	POMT2	HP:0007731	Chorioretinal dysplasia	HP:0040281	ORPHA:899
29954	POMT2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:370968
29954	POMT2	HP:0002827	Hip dislocation	-	OMIM:613156
29954	POMT2	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:370968
29954	POMT2	HP:0002803	Congenital contracture	-	OMIM:613150
29954	POMT2	HP:0002803	Congenital contracture	-	OMIM:236670
29954	POMT2	HP:0030099	Reduced muscle fiber alpha dystroglycan	HP:0040281	ORPHA:370968
29954	POMT2	HP:0030099	Reduced muscle fiber alpha dystroglycan	HP:0040281	ORPHA:370959
29954	POMT2	HP:0030099	Reduced muscle fiber alpha dystroglycan	HP:0040281	ORPHA:206559
29954	POMT2	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:588
29954	POMT2	HP:0000238	Hydrocephalus	1/2	OMIM:236670
29954	POMT2	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:899
29954	POMT2	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:370959
29954	POMT2	HP:0000238	Hydrocephalus	3/3	OMIM:613150
29954	POMT2	HP:0000252	Microcephaly	HP:0040282	ORPHA:370968
29954	POMT2	HP:0000252	Microcephaly	HP:0040282	ORPHA:370959
29954	POMT2	HP:0000252	Microcephaly	1/2	OMIM:236670
29954	POMT2	HP:0000252	Microcephaly	HP:0040283	ORPHA:899
29954	POMT2	HP:0000252	Microcephaly	-	OMIM:613150
29954	POMT2	HP:0000252	Microcephaly	4/4	OMIM:613156
29954	POMT2	HP:0002878	Respiratory failure	HP:0040283	ORPHA:370968
29954	POMT2	HP:0001522	Death in infancy	2/3	OMIM:613150
29954	POMT2	HP:0000204	Cleft upper lip	-	OMIM:236670
29954	POMT2	HP:0000204	Cleft upper lip	1/3	OMIM:613150
29954	POMT2	HP:0030046	Hypoglycosylation of alpha-dystroglycan	HP:0040281	ORPHA:370968
29954	POMT2	HP:0030046	Hypoglycosylation of alpha-dystroglycan	HP:0040281	ORPHA:370959
29954	POMT2	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:588
29954	POMT2	HP:0002938	Lumbar hyperlordosis	HP:0040282	ORPHA:370959
29954	POMT2	HP:0030197	Fatigable weakness of skeletal muscles	HP:0040282	ORPHA:370968
29954	POMT2	HP:0030197	Fatigable weakness of skeletal muscles	HP:0040282	ORPHA:206559
29954	POMT2	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:899
29954	POMT2	HP:0000369	Low-set ears	1/2	OMIM:236670
29954	POMT2	HP:0000369	Low-set ears	HP:0040283	ORPHA:899
29954	POMT2	HP:0000340	Sloping forehead	1/2	OMIM:236670
29954	POMT2	HP:0000347	Micrognathia	1/2	OMIM:236670
29954	POMT2	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:206559
29954	POMT2	HP:0002951	Partial absence of cerebellar vermis	1/3	OMIM:613150
29954	POMT2	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:370959
29954	POMT2	HP:0007957	Corneal opacity	1/1	OMIM:236670
29954	POMT2	HP:0007957	Corneal opacity	HP:0040282	ORPHA:899
29954	POMT2	HP:0007973	Retinal dysplasia	2/2	OMIM:236670
29954	POMT2	HP:0007973	Retinal dysplasia	HP:0040281	ORPHA:899
29954	POMT2	HP:0001712	Left ventricular hypertrophy	HP:0040283	OMIM:613156
29954	POMT2	HP:0000486	Strabismus	HP:0040281	ORPHA:588
29954	POMT2	HP:0000486	Strabismus	HP:0040283	ORPHA:370968
29954	POMT2	HP:0000486	Strabismus	HP:0040283	ORPHA:370959
29954	POMT2	HP:0000486	Strabismus	1/4	OMIM:613156
29954	POMT2	HP:0000485	Megalocornea	HP:0040283	ORPHA:370959
29954	POMT2	HP:0000485	Megalocornea	-	OMIM:236670
29954	POMT2	HP:0000482	Microcornea	HP:0040283	ORPHA:899
29954	POMT2	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:370968
29954	POMT2	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:370959
29954	POMT2	HP:0012400	Abnormal circulating aldolase concentration	HP:0040281	ORPHA:899
29954	POMT2	HP:0000411	Protruding ear	HP:0040283	ORPHA:899
29954	POMT2	HP:0000413	Atresia of the external auditory canal	-	OMIM:236670
29954	POMT2	HP:0006785	Limb-girdle muscular dystrophy	HP:0040281	ORPHA:206559
29954	POMT2	HP:0000518	Cataract	HP:0040282	ORPHA:588
29954	POMT2	HP:0000518	Cataract	-	OMIM:236670
29954	POMT2	HP:0000518	Cataract	HP:0040283	ORPHA:899
29954	POMT2	HP:0000518	Cataract	HP:0040283	ORPHA:370959
29954	POMT2	HP:0000518	Cataract	3/3	OMIM:613150
29954	POMT2	HP:0000528	Anophthalmia	HP:0040282	ORPHA:899
29954	POMT2	HP:0000525	Abnormality iris morphology	HP:0040283	ORPHA:370959
29954	POMT2	HP:0000505	Visual impairment	HP:0040281	ORPHA:588
29954	POMT2	HP:0000501	Glaucoma	HP:0040281	ORPHA:588
29954	POMT2	HP:0000501	Glaucoma	-	OMIM:236670
29954	POMT2	HP:0000501	Glaucoma	HP:0040282	ORPHA:899
29954	POMT2	HP:0000501	Glaucoma	-	OMIM:613150
29954	POMT2	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:370968
29954	POMT2	HP:0000580	Pigmentary retinopathy	1/4	OMIM:613156
29954	POMT2	HP:0000587	Abnormal optic nerve morphology	HP:0040281	ORPHA:899
29954	POMT2	HP:0000589	Coloboma	HP:0040283	ORPHA:370959
29954	POMT2	HP:0000589	Coloboma	-	OMIM:236670
29954	POMT2	HP:0000557	Buphthalmos	2/3	OMIM:613150
29954	POMT2	HP:0000557	Buphthalmos	-	OMIM:236670
29954	POMT2	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:899
29954	POMT2	HP:0000568	Microphthalmia	1/1	OMIM:236670
29954	POMT2	HP:0000568	Microphthalmia	HP:0040282	ORPHA:899
29954	POMT2	HP:0000568	Microphthalmia	HP:0040284	ORPHA:370959
29954	POMT2	HP:0000568	Microphthalmia	1/3	OMIM:613150
29954	POMT2	HP:0000541	Retinal detachment	-	OMIM:236670
29954	POMT2	HP:0000541	Retinal detachment	HP:0040281	ORPHA:899
29954	POMT2	HP:0000541	Retinal detachment	HP:0040284	ORPHA:370959
29954	POMT2	HP:0000540	Hypermetropia	-	OMIM:613150
29954	POMT2	HP:0000545	Myopia	HP:0040281	ORPHA:588
29954	POMT2	HP:0000545	Myopia	-	OMIM:236670
29954	POMT2	HP:0000545	Myopia	HP:0040283	ORPHA:370968
29954	POMT2	HP:0000545	Myopia	HP:0040283	ORPHA:370959
29954	POMT2	HP:0000545	Myopia	-	OMIM:613150
29954	POMT2	HP:0000545	Myopia	1/4	OMIM:613156
29957	SLC25A24	HP:0001159	Syndactyly	3/5	OMIM:612289
29957	SLC25A24	HP:0010940	Aplasia/Hypoplasia of the nasal bone	HP:0040282	ORPHA:2095
29957	SLC25A24	HP:0009891	Underdeveloped supraorbital ridges	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0009891	Underdeveloped supraorbital ridges	5/5	OMIM:612289
29957	SLC25A24	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0009882	Short distal phalanx of finger	7/9	OMIM:612289
29957	SLC25A24	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
29957	SLC25A24	HP:0003758	Reduced subcutaneous adipose tissue	8/9	OMIM:612289
29957	SLC25A24	HP:0003758	Reduced subcutaneous adipose tissue	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0001293	Cranial nerve compression	-	OMIM:131300
29957	SLC25A24	HP:0001290	Generalized hypotonia	-	OMIM:612289
29957	SLC25A24	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:2095
29957	SLC25A24	HP:0001252	Hypotonia	2/7	OMIM:615777
29957	SLC25A24	HP:0001249	Intellectual disability	5/7	OMIM:615777
29957	SLC25A24	HP:0001263	Global developmental delay	-	OMIM:615777
29957	SLC25A24	HP:0002561	Absent nipple	-	OMIM:612289
29957	SLC25A24	HP:0002557	Hypoplastic nipples	-	OMIM:612289
29957	SLC25A24	HP:0002515	Waddling gait	54/102	OMIM:131300
29957	SLC25A24	HP:0003811	Neonatal death	2/4	OMIM:612289
29957	SLC25A24	HP:0000059	Hypoplastic labia majora	-	OMIM:612289
29957	SLC25A24	HP:0000046	Small scrotum	-	OMIM:612289
29957	SLC25A24	HP:0000054	Micropenis	-	OMIM:612289
29957	SLC25A24	HP:0001382	Joint hypermobility	-	OMIM:615777
29957	SLC25A24	HP:0001363	Craniosynostosis	2/2	OMIM:612289
29957	SLC25A24	HP:0002694	Sclerosis of skull base	-	OMIM:131300
29957	SLC25A24	HP:0000028	Cryptorchidism	2/2	OMIM:612289
29957	SLC25A24	HP:0008897	Postnatal growth retardation	-	OMIM:615777
29957	SLC25A24	HP:0006191	Deep palmar crease	-	OMIM:612289
29957	SLC25A24	HP:0007495	Prematurely aged appearance	4/4	OMIM:612289
29957	SLC25A24	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0007477	Abnormal dermatoglyphics	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
29957	SLC25A24	HP:0001324	Muscle weakness	40/96	OMIM:131300
29957	SLC25A24	HP:0001324	Muscle weakness	-	OMIM:612289
29957	SLC25A24	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
29957	SLC25A24	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
29957	SLC25A24	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
29957	SLC25A24	HP:0000006	Autosomal dominant inheritance	-	OMIM:612289
29957	SLC25A24	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:612289
29957	SLC25A24	HP:0002650	Scoliosis	12/14	OMIM:131300
29957	SLC25A24	HP:0002650	Scoliosis	-	OMIM:612289
29957	SLC25A24	HP:0001321	Cerebellar hypoplasia	1/3	OMIM:612289
29957	SLC25A24	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
29957	SLC25A24	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
29957	SLC25A24	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
29957	SLC25A24	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
29957	SLC25A24	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0000160	Narrow mouth	-	OMIM:612289
29957	SLC25A24	HP:0000175	Cleft palate	2/7	OMIM:615777
29957	SLC25A24	HP:0002705	High, narrow palate	1/5	OMIM:612289
29957	SLC25A24	HP:0002750	Delayed skeletal maturation	-	OMIM:612289
29957	SLC25A24	HP:0002020	Gastroesophageal reflux	-	OMIM:612289
29957	SLC25A24	HP:0011800	Midface retrusion	5/5	OMIM:612289
29957	SLC25A24	HP:0002089	Pulmonary hypoplasia	-	OMIM:612289
29957	SLC25A24	HP:0002092	Pulmonary arterial hypertension	1/4	OMIM:612289
29957	SLC25A24	HP:0002093	Respiratory insufficiency	-	OMIM:612289
29957	SLC25A24	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:612289
29957	SLC25A24	HP:0003388	Easy fatigability	36/76	OMIM:131300
29957	SLC25A24	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
29957	SLC25A24	HP:0100578	Lipoatrophy	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0005916	Abnormal metacarpal morphology	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0002100	Recurrent aspiration pneumonia	-	OMIM:612289
29957	SLC25A24	HP:0002107	Pneumothorax	-	OMIM:612289
29957	SLC25A24	HP:0002162	Low posterior hairline	-	OMIM:612289
29957	SLC25A24	HP:0003577	Congenital onset	-	OMIM:612289
29957	SLC25A24	HP:0002230	Generalized hirsutism	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0002230	Generalized hirsutism	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0002209	Sparse scalp hair	-	OMIM:612289
29957	SLC25A24	HP:0002208	Coarse hair	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0002208	Coarse hair	-	OMIM:612289
29957	SLC25A24	HP:0009721	Shagreen patch	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0002282	Gray matter heterotopia	-	OMIM:612289
29957	SLC25A24	HP:0002299	Brittle hair	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0010648	Dermal translucency	4/5	OMIM:612289
29957	SLC25A24	HP:0011968	Feeding difficulties	-	OMIM:612289
29957	SLC25A24	HP:0003510	Severe short stature	7/7	OMIM:615777
29957	SLC25A24	HP:0001015	Prominent superficial veins	4/4	OMIM:612289
29957	SLC25A24	HP:0002315	Headache	-	OMIM:131300
29957	SLC25A24	HP:0004976	Knee dislocation	6/7	OMIM:615777
29957	SLC25A24	HP:0100678	Premature skin wrinkling	9/9	OMIM:612289
29957	SLC25A24	HP:0010808	Protruding tongue	-	OMIM:612289
29957	SLC25A24	HP:0009804	Tooth agenesis	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0009803	Short phalanx of finger	-	OMIM:615777
29957	SLC25A24	HP:0008497	Congenital craniofacial dysostosis	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0007165	Periventricular heterotopia	1/3	OMIM:612289
29957	SLC25A24	HP:0009763	Limb pain	63/92	OMIM:131300
29957	SLC25A24	HP:0003621	Juvenile onset	-	OMIM:131300
29957	SLC25A24	HP:0004942	Aortic aneurysm	2/3	OMIM:612289
29957	SLC25A24	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
29957	SLC25A24	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
29957	SLC25A24	HP:0000639	Nystagmus	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0000636	Upper eyelid coloboma	HP:0040283	ORPHA:2095
29957	SLC25A24	HP:6001056	Out-toeing	-	OMIM:131300
29957	SLC25A24	HP:0000651	Diplopia	-	OMIM:131300
29957	SLC25A24	HP:0000647	Sclerocornea	HP:0040282	ORPHA:2095
29957	SLC25A24	HP:0001956	Truncal obesity	2/7	OMIM:615777
29957	SLC25A24	HP:0001903	Anemia	HP:0040283	OMIM:131300
29957	SLC25A24	HP:0010049	Short metacarpal	-	OMIM:615777
29957	SLC25A24	HP:0000678	Dental crowding	-	OMIM:615777
29957	SLC25A24	HP:0000677	Oligodontia	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0000677	Oligodontia	-	OMIM:612289
29957	SLC25A24	HP:0000691	Microdontia	-	OMIM:612289
29957	SLC25A24	HP:0000670	Carious teeth	-	OMIM:131300
29957	SLC25A24	HP:0011304	Broad thumb	2/7	OMIM:615777
29957	SLC25A24	HP:0000668	Hypodontia	-	OMIM:615777
29957	SLC25A24	HP:0000664	Synophrys	-	OMIM:615777
29957	SLC25A24	HP:0000664	Synophrys	-	OMIM:612289
29957	SLC25A24	HP:0004322	Short stature	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0004322	Short stature	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0004322	Short stature	4/5	OMIM:612289
29957	SLC25A24	HP:0004331	Decreased skull ossification	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0004396	Poor appetite	-	OMIM:131300
29957	SLC25A24	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
29957	SLC25A24	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
29957	SLC25A24	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
29957	SLC25A24	HP:0003026	Short long bone	7/7	OMIM:615777
29957	SLC25A24	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
29957	SLC25A24	HP:0012745	Short palpebral fissure	5/5	OMIM:612289
29957	SLC25A24	HP:0000767	Pectus excavatum	2/7	OMIM:615777
29957	SLC25A24	HP:0000768	Pectus carinatum	1/7	OMIM:615777
29957	SLC25A24	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
29957	SLC25A24	HP:0000750	Delayed speech and language development	-	OMIM:615777
29957	SLC25A24	HP:0011461	Fetal onset	7/7	OMIM:615777
29957	SLC25A24	HP:0000774	Narrow chest	2/7	OMIM:615777
29957	SLC25A24	HP:0004440	Coronal craniosynostosis	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0004440	Coronal craniosynostosis	4/4	OMIM:612289
29957	SLC25A24	HP:0003196	Short nose	-	OMIM:612289
29957	SLC25A24	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:2095
29957	SLC25A24	HP:0000926	Platyspondyly	1/7	OMIM:615777
29957	SLC25A24	HP:0000926	Platyspondyly	-	OMIM:612289
29957	SLC25A24	HP:0003180	Flat acetabular roof	-	OMIM:615777
29957	SLC25A24	HP:0004482	Relative macrocephaly	-	OMIM:615777
29957	SLC25A24	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
29957	SLC25A24	HP:0000823	Delayed puberty	-	OMIM:131300
29957	SLC25A24	HP:0000894	Short clavicles	-	OMIM:615777
29957	SLC25A24	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
29957	SLC25A24	HP:0000998	Hypertrichosis	5/5	OMIM:612289
29957	SLC25A24	HP:0000973	Cutis laxa	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
29957	SLC25A24	HP:0005807	Absent distal phalanges	-	OMIM:612289
29957	SLC25A24	HP:0008070	Sparse hair	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0008038	Aplastic/hypoplastic lacrimal glands	5/5	OMIM:612289
29957	SLC25A24	HP:0000286	Epicanthus	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0000286	Epicanthus	1/7	OMIM:615777
29957	SLC25A24	HP:0000280	Coarse facial features	2/7	OMIM:615777
29957	SLC25A24	HP:0000278	Retrognathia	-	OMIM:612289
29957	SLC25A24	HP:0000294	Low anterior hairline	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0000294	Low anterior hairline	-	OMIM:612289
29957	SLC25A24	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0000260	Wide anterior fontanel	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0000260	Wide anterior fontanel	4/4	OMIM:612289
29957	SLC25A24	HP:0000262	Turricephaly	-	OMIM:612289
29957	SLC25A24	HP:0007740	Long eyelashes in irregular rows	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0002827	Hip dislocation	3/7	OMIM:615777
29957	SLC25A24	HP:0000238	Hydrocephalus	-	OMIM:612289
29957	SLC25A24	HP:0000252	Microcephaly	-	OMIM:615777
29957	SLC25A24	HP:0000252	Microcephaly	3/5	OMIM:612289
29957	SLC25A24	HP:0001582	Redundant skin	-	OMIM:612289
29957	SLC25A24	HP:0001582	Redundant skin	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0000248	Brachycephaly	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0000248	Brachycephaly	5/5	OMIM:612289
29957	SLC25A24	HP:0000219	Thin upper lip vermilion	-	OMIM:612289
29957	SLC25A24	HP:0001545	Anteriorly placed anus	-	OMIM:612289
29957	SLC25A24	HP:0001562	Oligohydramnios	4/4	OMIM:612289
29957	SLC25A24	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0000232	Everted lower lip vermilion	-	OMIM:612289
29957	SLC25A24	HP:0002857	Genu valgum	-	OMIM:131300
29957	SLC25A24	HP:0001522	Death in infancy	2/4	OMIM:612289
29957	SLC25A24	HP:0001537	Umbilical hernia	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:2095
29957	SLC25A24	HP:0001537	Umbilical hernia	3/4	OMIM:612289
29957	SLC25A24	HP:0001533	Slender build	-	OMIM:131300
29957	SLC25A24	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0001508	Failure to thrive	5/5	OMIM:612289
29957	SLC25A24	HP:0001518	Small for gestational age	4/4	OMIM:612289
29957	SLC25A24	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
29957	SLC25A24	HP:0001511	Intrauterine growth retardation	4/4	OMIM:612289
29957	SLC25A24	HP:0007807	Optic nerve compression	-	OMIM:131300
29957	SLC25A24	HP:0012368	Flat face	7/7	OMIM:615777
29957	SLC25A24	HP:0005247	Hypoplasia of the abdominal wall musculature	-	OMIM:612289
29957	SLC25A24	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
29957	SLC25A24	HP:0005180	Tricuspid regurgitation	-	OMIM:612289
29957	SLC25A24	HP:0000365	Hearing impairment	10/67	OMIM:131300
29957	SLC25A24	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0000358	Posteriorly rotated ears	-	OMIM:612289
29957	SLC25A24	HP:0000369	Low-set ears	8/9	OMIM:612289
29957	SLC25A24	HP:0000343	Long philtrum	1/7	OMIM:615777
29957	SLC25A24	HP:0000343	Long philtrum	-	OMIM:612289
29957	SLC25A24	HP:0011001	Increased bone mineral density	-	OMIM:131300
29957	SLC25A24	HP:0000337	Broad forehead	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0000337	Broad forehead	5/5	OMIM:612289
29957	SLC25A24	HP:0000347	Micrognathia	3/4	OMIM:612289
29957	SLC25A24	HP:0000319	Smooth philtrum	-	OMIM:612289
29957	SLC25A24	HP:0001647	Bicuspid aortic valve	1/4	OMIM:612289
29957	SLC25A24	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0000316	Hypertelorism	-	OMIM:612289
29957	SLC25A24	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:2095
29957	SLC25A24	HP:0001643	Patent ductus arteriosus	1/4	OMIM:612289
29957	SLC25A24	HP:0000311	Round face	2/7	OMIM:615777
29957	SLC25A24	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:2095
29957	SLC25A24	HP:0000325	Triangular face	4/4	OMIM:612289
29957	SLC25A24	HP:0001627	Abnormal heart morphology	3/5	OMIM:612289
29957	SLC25A24	HP:0002970	Genu varum	-	OMIM:615777
29957	SLC25A24	HP:0001631	Atrial septal defect	-	OMIM:612289
29957	SLC25A24	HP:0000303	Mandibular prognathia	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0000303	Mandibular prognathia	-	OMIM:131300
29957	SLC25A24	HP:0000303	Mandibular prognathia	-	OMIM:612289
29957	SLC25A24	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0000405	Conductive hearing impairment	3/5	OMIM:612289
29957	SLC25A24	HP:0001712	Left ventricular hypertrophy	-	OMIM:612289
29957	SLC25A24	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
29957	SLC25A24	HP:0005280	Depressed nasal bridge	-	OMIM:612289
29957	SLC25A24	HP:0000483	Astigmatism	HP:0040282	ORPHA:2095
29957	SLC25A24	HP:0000486	Strabismus	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0000494	Downslanted palpebral fissures	5/5	OMIM:612289
29957	SLC25A24	HP:0000492	Abnormal eyelid morphology	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0001792	Small nail	8/9	OMIM:612289
29957	SLC25A24	HP:0000470	Short neck	1/7	OMIM:615777
29957	SLC25A24	HP:0001798	Anonychia	HP:0040284	OMIM:612289
29957	SLC25A24	HP:0001769	Broad foot	HP:0040283	OMIM:615777
29957	SLC25A24	HP:0001763	Pes planus	1/7	OMIM:615777
29957	SLC25A24	HP:0000444	Convex nasal ridge	4/4	OMIM:612289
29957	SLC25A24	HP:0001760	Abnormal foot morphology	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0001840	Metatarsus adductus	-	OMIM:615777
29957	SLC25A24	HP:0000520	Proptosis	2/4	OMIM:131300
29957	SLC25A24	HP:0000520	Proptosis	7/7	OMIM:615777
29957	SLC25A24	HP:0000520	Proptosis	-	OMIM:612289
29957	SLC25A24	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:2095
29957	SLC25A24	HP:0000592	Blue sclerae	2/7	OMIM:615777
29957	SLC25A24	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:2963
29957	SLC25A24	HP:0000568	Microphthalmia	-	OMIM:612289
29957	SLC25A24	HP:0000540	Hypermetropia	-	OMIM:612289
29957	SLC25A24	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
29957	SLC25A24	HP:0012514	Lower limb pain	4/4	OMIM:131300
29958	DMGDH	HP:0003750	Increased muscle fatiguability	HP:0040281	ORPHA:243343
29958	DMGDH	HP:0003750	Increased muscle fatiguability	-	OMIM:605850
29958	DMGDH	HP:0000007	Autosomal recessive inheritance	-	OMIM:605850
29958	DMGDH	HP:0410020	Fish odor	HP:0040281	ORPHA:243343
29958	DMGDH	HP:0410020	Fish odor	-	OMIM:605850
29958	DMGDH	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:243343
29958	DMGDH	HP:0031945	Elevated circulating N,N-dimethylglycine concentration	-	OMIM:605850
29958	DMGDH	HP:0031946	Elevated urinary N,N-dimethylglycine level	-	OMIM:605850
29958	DMGDH	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:243343
29958	DMGDH	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:605850
29958	DMGDH	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:243343
29960	MRM2	HP:0001272	Cerebellar atrophy	1/1	OMIM:618567
29960	MRM2	HP:0001285	Spastic tetraparesis	1/1	OMIM:618567
29960	MRM2	HP:0001250	Seizure	1/1	OMIM:618567
29960	MRM2	HP:0001263	Global developmental delay	1/1	OMIM:618567
29960	MRM2	HP:0003819	Death in childhood	1/1	OMIM:618567
29960	MRM2	HP:0001399	Hepatic failure	1/1	OMIM:618567
29960	MRM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618567
29960	MRM2	HP:0002072	Chorea	1/1	OMIM:618567
29960	MRM2	HP:0002059	Cerebral atrophy	1/1	OMIM:618567
29960	MRM2	HP:0002133	Status epilepticus	1/1	OMIM:618567
29960	MRM2	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:618567
29960	MRM2	HP:0003572	Low plasma citrulline	1/1	OMIM:618567
29960	MRM2	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:618567
29960	MRM2	HP:0100660	Dyskinesia	1/1	OMIM:618567
29960	MRM2	HP:0001941	Acidosis	1/1	OMIM:618567
29960	MRM2	HP:0001987	Hyperammonemia	1/1	OMIM:618567
29960	MRM2	HP:0012847	Epilepsia partialis continua	1/1	OMIM:618567
29960	MRM2	HP:0100248	Hemiballismus	1/1	OMIM:618567
29967	LRP12	HP:0002460	Distal muscle weakness	39/52	OMIM:164310
29967	LRP12	HP:0010875	Chaddock reflex	1/10	OMIM:620452
29967	LRP12	HP:0003736	Autophagic vacuoles	-	OMIM:164310
29967	LRP12	HP:0003701	Proximal muscle weakness	20/51	OMIM:164310
29967	LRP12	HP:0001288	Gait disturbance	2/10	OMIM:620452
29967	LRP12	HP:0001288	Gait disturbance	HP:0040283	ORPHA:98897
29967	LRP12	HP:0001288	Gait disturbance	-	OMIM:164310
29967	LRP12	HP:0001284	Areflexia	-	OMIM:164310
29967	LRP12	HP:0001284	Areflexia	HP:0040283	ORPHA:98897
29967	LRP12	HP:0001251	Ataxia	1/4	OMIM:164310
29967	LRP12	HP:0001260	Dysarthria	3/10	OMIM:620452
29967	LRP12	HP:0001260	Dysarthria	6/6	OMIM:164310
29967	LRP12	HP:0008756	Bowing of the vocal cords	-	OMIM:164310
29967	LRP12	HP:0008756	Bowing of the vocal cords	HP:0040282	ORPHA:98897
29967	LRP12	HP:0033685	Fiber type grouping	3/10	OMIM:620452
29967	LRP12	HP:0007340	Lower limb muscle weakness	8/10	OMIM:620452
29967	LRP12	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:98897
29967	LRP12	HP:0002500	Abnormal cerebral white matter morphology	2/3	OMIM:164310
29967	LRP12	HP:0032341	Reduced forced vital capacity	7/47	OMIM:164310
29967	LRP12	HP:0003805	Rimmed vacuoles	13/13	OMIM:164310
29967	LRP12	HP:0003805	Rimmed vacuoles	1/10	OMIM:620452
29967	LRP12	HP:0031162	Impaired oropharyngeal swallow response	HP:0040282	ORPHA:98897
29967	LRP12	HP:0001324	Muscle weakness	1/10	OMIM:620452
29967	LRP12	HP:0001324	Muscle weakness	1/1	OMIM:164310
29967	LRP12	HP:0001337	Tremor	1/4	OMIM:164310
29967	LRP12	HP:0000006	Autosomal dominant inheritance	-	OMIM:620452
29967	LRP12	HP:0000006	Autosomal dominant inheritance	-	OMIM:164310
29967	LRP12	HP:0001315	Reduced tendon reflexes	5/10	OMIM:620452
29967	LRP12	HP:0000183	Tongue muscle weakness	HP:0040282	ORPHA:98897
29967	LRP12	HP:0001488	Bilateral ptosis	1/1	OMIM:164310
29967	LRP12	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040284	ORPHA:98897
29967	LRP12	HP:0008959	Distal upper limb muscle weakness	HP:0040283	ORPHA:98897
29967	LRP12	HP:0008963	Tibialis muscle weakness	HP:0040283	ORPHA:98897
29967	LRP12	HP:0008944	Distal lower limb amyotrophy	HP:0040282	ORPHA:98897
29967	LRP12	HP:0002705	High, narrow palate	HP:0040282	ORPHA:98897
29967	LRP12	HP:0002747	Respiratory insufficiency due to muscle weakness	2/4	OMIM:164310
29967	LRP12	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:98897
29967	LRP12	HP:0003326	Myalgia	1/10	OMIM:620452
29967	LRP12	HP:0002015	Dysphagia	3/10	OMIM:620452
29967	LRP12	HP:0002015	Dysphagia	40/54	OMIM:164310
29967	LRP12	HP:0002098	Respiratory distress	1/1	OMIM:164310
29967	LRP12	HP:0002091	Restrictive ventilatory defect	-	OMIM:164310
29967	LRP12	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:98897
29967	LRP12	HP:0003394	Muscle spasm	1/1	OMIM:164310
29967	LRP12	HP:0002058	Myopathic facies	1/1	OMIM:164310
29967	LRP12	HP:0002058	Myopathic facies	HP:0040282	ORPHA:98897
29967	LRP12	HP:0003487	Babinski sign	1/10	OMIM:620452
29967	LRP12	HP:0003484	Upper limb muscle weakness	2/10	OMIM:620452
29967	LRP12	HP:0003458	EMG: myopathic abnormalities	18/19	OMIM:164310
29967	LRP12	HP:0002100	Recurrent aspiration pneumonia	HP:0040282	ORPHA:98897
29967	LRP12	HP:0004757	Paroxysmal atrial fibrillation	1/3	OMIM:164310
29967	LRP12	HP:0010550	Paraplegia	HP:0040284	ORPHA:98897
29967	LRP12	HP:0003596	Middle age onset	1/3	OMIM:164310
29967	LRP12	HP:0003596	Middle age onset	8/10	OMIM:620452
29967	LRP12	HP:0003551	Difficulty climbing stairs	4/10	OMIM:620452
29967	LRP12	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:164310
29967	LRP12	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:98897
29967	LRP12	HP:0008376	Nasal dysarthria	HP:0040281	ORPHA:98897
29967	LRP12	HP:0010628	Facial palsy	-	OMIM:164310
29967	LRP12	HP:0430015	Abnormal morphology of musculature of pharynx	HP:0040282	ORPHA:98897
29967	LRP12	HP:0002380	Fasciculations	2/10	OMIM:620452
29967	LRP12	HP:0003698	Difficulty standing	1/10	OMIM:620452
29967	LRP12	HP:0003693	Distal amyotrophy	1/1	OMIM:164310
29967	LRP12	HP:0003677	Slowly progressive	-	OMIM:164310
29967	LRP12	HP:0007149	Distal upper limb amyotrophy	HP:0040282	ORPHA:98897
29967	LRP12	HP:0003621	Juvenile onset	1/3	OMIM:164310
29967	LRP12	HP:0009073	Progressive proximal muscle weakness	HP:0040283	ORPHA:98897
29967	LRP12	HP:0009063	Progressive distal muscle weakness	HP:0040282	ORPHA:98897
29967	LRP12	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:98897
29967	LRP12	HP:0009027	Foot dorsiflexor weakness	-	OMIM:164310
29967	LRP12	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:98897
29967	LRP12	HP:0011462	Young adult onset	1/3	OMIM:164310
29967	LRP12	HP:0003236	Elevated circulating creatine kinase concentration	3/11	OMIM:164310
29967	LRP12	HP:0003202	Skeletal muscle atrophy	5/10	OMIM:620452
29967	LRP12	HP:0100284	EMG: myotonic discharges	8/16	OMIM:164310
29967	LRP12	HP:0002878	Respiratory failure	1/10	OMIM:620452
29967	LRP12	HP:0000218	High palate	-	OMIM:164310
29967	LRP12	HP:0000218	High palate	HP:0040282	ORPHA:98897
29967	LRP12	HP:0002835	Aspiration	-	OMIM:164310
29967	LRP12	HP:0007838	Progressive ptosis	HP:0040281	ORPHA:98897
29967	LRP12	HP:0001604	Vocal cord paresis	HP:0040282	ORPHA:98897
29967	LRP12	HP:0001618	Dysphonia	1/1	OMIM:164310
29967	LRP12	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040283	ORPHA:98897
29967	LRP12	HP:0001611	Hypernasal speech	-	OMIM:164310
29967	LRP12	HP:0001644	Dilated cardiomyopathy	1/3	OMIM:164310
29967	LRP12	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:164310
29967	LRP12	HP:0000301	Abnormality of facial musculature	HP:0040281	ORPHA:98897
29967	LRP12	HP:0030319	Weakness of facial musculature	HP:0040281	ORPHA:98897
29967	LRP12	HP:3000010	Abnormality of orbicularis oris muscle	HP:0040284	ORPHA:98897
29967	LRP12	HP:0000408	Progressive sensorineural hearing impairment	HP:0040283	ORPHA:98897
29967	LRP12	HP:3000005	Abnormality of masseter muscle	HP:0040283	ORPHA:98897
29967	LRP12	HP:0000407	Sensorineural hearing impairment	2/47	OMIM:164310
29967	LRP12	HP:0012444	Brain atrophy	3/3	OMIM:164310
29967	LRP12	HP:0012416	Hypercapnia	8/47	OMIM:164310
29967	LRP12	HP:0025710	Late young adult onset	2/10	OMIM:620452
29967	LRP12	HP:0001824	Weight loss	-	OMIM:164310
29967	LRP12	HP:0001824	Weight loss	HP:0040281	ORPHA:98897
29967	LRP12	HP:0000508	Ptosis	52/53	OMIM:164310
29967	LRP12	HP:0000597	Ophthalmoparesis	39/47	OMIM:164310
29967	LRP12	HP:0000597	Ophthalmoparesis	HP:0040281	ORPHA:98897
29967	LRP12	HP:0000590	Progressive external ophthalmoplegia	HP:0040281	ORPHA:98897
29967	LRP12	HP:0000544	External ophthalmoplegia	4/5	OMIM:164310
29968	PSAT1	HP:0009879	Simplified gyral pattern	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0002414	Spina bifida	1/11	OMIM:616038
29968	PSAT1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
29968	PSAT1	HP:0001293	Cranial nerve compression	-	OMIM:131300
29968	PSAT1	HP:0001276	Hypertonia	1/2	OMIM:610992
29968	PSAT1	HP:0001276	Hypertonia	HP:0040282	ORPHA:284417
29968	PSAT1	HP:0001285	Spastic tetraparesis	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0001250	Seizure	1/2	OMIM:610992
29968	PSAT1	HP:0001250	Seizure	HP:0040282	ORPHA:284417
29968	PSAT1	HP:0001252	Hypotonia	2/7	OMIM:615777
29968	PSAT1	HP:0001249	Intellectual disability	5/7	OMIM:615777
29968	PSAT1	HP:0001263	Global developmental delay	20/20	OMIM:610992
29968	PSAT1	HP:0001263	Global developmental delay	-	OMIM:615777
29968	PSAT1	HP:0006101	Finger syndactyly	3/12	OMIM:616038
29968	PSAT1	HP:0002515	Waddling gait	54/102	OMIM:131300
29968	PSAT1	HP:0500228	Decreased CSF serine concentration	2/2	OMIM:610992
29968	PSAT1	HP:0001382	Joint hypermobility	-	OMIM:615777
29968	PSAT1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:284417
29968	PSAT1	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
29968	PSAT1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
29968	PSAT1	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:284417
29968	PSAT1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
29968	PSAT1	HP:0001324	Muscle weakness	40/96	OMIM:131300
29968	PSAT1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
29968	PSAT1	HP:0001339	Lissencephaly	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0001339	Lissencephaly	3/7	OMIM:616038
29968	PSAT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:610992
29968	PSAT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
29968	PSAT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616038
29968	PSAT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
29968	PSAT1	HP:0001336	Myoclonus	1/2	OMIM:610992
29968	PSAT1	HP:0001336	Myoclonus	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0001320	Cerebellar vermis hypoplasia	1/1	OMIM:610992
29968	PSAT1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0002650	Scoliosis	3/12	OMIM:616038
29968	PSAT1	HP:0002650	Scoliosis	12/14	OMIM:131300
29968	PSAT1	HP:0001321	Cerebellar hypoplasia	3/6	OMIM:616038
29968	PSAT1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
29968	PSAT1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
29968	PSAT1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
29968	PSAT1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
29968	PSAT1	HP:0000175	Cleft palate	3/12	OMIM:616038
29968	PSAT1	HP:0000175	Cleft palate	2/7	OMIM:615777
29968	PSAT1	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:284417
29968	PSAT1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:284417
29968	PSAT1	HP:0003388	Easy fatigability	36/76	OMIM:131300
29968	PSAT1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
29968	PSAT1	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0002154	Hyperglycinemia	HP:0040281	ORPHA:284417
29968	PSAT1	HP:0002119	Ventriculomegaly	2/5	OMIM:616038
29968	PSAT1	HP:0002104	Apnea	1/2	OMIM:610992
29968	PSAT1	HP:0003577	Congenital onset	12/12	OMIM:616038
29968	PSAT1	HP:0011968	Feeding difficulties	1/2	OMIM:610992
29968	PSAT1	HP:0003510	Severe short stature	7/7	OMIM:615777
29968	PSAT1	HP:0002392	EEG with polyspike wave complexes	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0002315	Headache	-	OMIM:131300
29968	PSAT1	HP:0004976	Knee dislocation	6/7	OMIM:615777
29968	PSAT1	HP:0200048	Cyanotic episode	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0200048	Cyanotic episode	1/2	OMIM:610992
29968	PSAT1	HP:0009803	Short phalanx of finger	-	OMIM:615777
29968	PSAT1	HP:0009763	Limb pain	63/92	OMIM:131300
29968	PSAT1	HP:0003623	Neonatal onset	2/2	OMIM:610992
29968	PSAT1	HP:0003621	Juvenile onset	-	OMIM:131300
29968	PSAT1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
29968	PSAT1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
29968	PSAT1	HP:6001056	Out-toeing	-	OMIM:131300
29968	PSAT1	HP:0000651	Diplopia	-	OMIM:131300
29968	PSAT1	HP:0001956	Truncal obesity	2/7	OMIM:615777
29968	PSAT1	HP:0001903	Anemia	HP:0040283	OMIM:131300
29968	PSAT1	HP:0010049	Short metacarpal	-	OMIM:615777
29968	PSAT1	HP:0000678	Dental crowding	-	OMIM:615777
29968	PSAT1	HP:0000670	Carious teeth	-	OMIM:131300
29968	PSAT1	HP:0011304	Broad thumb	2/7	OMIM:615777
29968	PSAT1	HP:0000668	Hypodontia	-	OMIM:615777
29968	PSAT1	HP:0000664	Synophrys	-	OMIM:615777
29968	PSAT1	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0004396	Poor appetite	-	OMIM:131300
29968	PSAT1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
29968	PSAT1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
29968	PSAT1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
29968	PSAT1	HP:0003026	Short long bone	7/7	OMIM:615777
29968	PSAT1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
29968	PSAT1	HP:0012736	Profound global developmental delay	HP:0040281	ORPHA:284417
29968	PSAT1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
29968	PSAT1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
29968	PSAT1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
29968	PSAT1	HP:0000750	Delayed speech and language development	-	OMIM:615777
29968	PSAT1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0011461	Fetal onset	7/7	OMIM:615777
29968	PSAT1	HP:0011451	Primary microcephaly	HP:0040281	ORPHA:284417
29968	PSAT1	HP:0000774	Narrow chest	2/7	OMIM:615777
29968	PSAT1	HP:0003121	Limb joint contracture	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0000926	Platyspondyly	1/7	OMIM:615777
29968	PSAT1	HP:0003180	Flat acetabular roof	-	OMIM:615777
29968	PSAT1	HP:0004482	Relative macrocephaly	-	OMIM:615777
29968	PSAT1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
29968	PSAT1	HP:0000823	Delayed puberty	-	OMIM:131300
29968	PSAT1	HP:0000894	Short clavicles	-	OMIM:615777
29968	PSAT1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
29968	PSAT1	HP:0034390	Decreased CSF glycine concentration	2/2	OMIM:610992
29968	PSAT1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
29968	PSAT1	HP:0000969	Edema	8/11	OMIM:616038
29968	PSAT1	HP:0008064	Ichthyosis	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0008064	Ichthyosis	12/12	OMIM:616038
29968	PSAT1	HP:0007704	Paroxysmal involuntary eye movements	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0012279	Hyposerinemia	HP:0040281	ORPHA:284417
29968	PSAT1	HP:0012279	Hyposerinemia	2/2	OMIM:610992
29968	PSAT1	HP:0000286	Epicanthus	1/7	OMIM:615777
29968	PSAT1	HP:0000280	Coarse facial features	2/7	OMIM:615777
29968	PSAT1	HP:0012277	Hypoglycinemia	2/2	OMIM:610992
29968	PSAT1	HP:0006466	Ankle flexion contracture	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0002827	Hip dislocation	3/7	OMIM:615777
29968	PSAT1	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0000252	Microcephaly	12/12	OMIM:616038
29968	PSAT1	HP:0000252	Microcephaly	-	OMIM:615777
29968	PSAT1	HP:0000218	High palate	3/12	OMIM:616038
29968	PSAT1	HP:0001561	Polyhydramnios	3/8	OMIM:616038
29968	PSAT1	HP:0001558	Decreased fetal movement	7/7	OMIM:616038
29968	PSAT1	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:284417
29968	PSAT1	HP:0002857	Genu valgum	-	OMIM:131300
29968	PSAT1	HP:0001522	Death in infancy	1/2	OMIM:610992
29968	PSAT1	HP:0001538	Protuberant abdomen	1/12	OMIM:616038
29968	PSAT1	HP:0001533	Slender build	-	OMIM:131300
29968	PSAT1	HP:0001511	Intrauterine growth retardation	12/12	OMIM:616038
29968	PSAT1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:284417
29968	PSAT1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
29968	PSAT1	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0007807	Optic nerve compression	-	OMIM:131300
29968	PSAT1	HP:0012368	Flat face	7/7	OMIM:615777
29968	PSAT1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
29968	PSAT1	HP:0000365	Hearing impairment	10/67	OMIM:131300
29968	PSAT1	HP:0000369	Low-set ears	11/12	OMIM:616038
29968	PSAT1	HP:0000340	Sloping forehead	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0000340	Sloping forehead	11/11	OMIM:616038
29968	PSAT1	HP:0000343	Long philtrum	1/7	OMIM:615777
29968	PSAT1	HP:0011001	Increased bone mineral density	-	OMIM:131300
29968	PSAT1	HP:0000347	Micrognathia	12/12	OMIM:616038
29968	PSAT1	HP:0000347	Micrognathia	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0000316	Hypertelorism	9/12	OMIM:616038
29968	PSAT1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0000311	Round face	2/7	OMIM:615777
29968	PSAT1	HP:0002970	Genu varum	-	OMIM:615777
29968	PSAT1	HP:0000303	Mandibular prognathia	-	OMIM:131300
29968	PSAT1	HP:0006610	Wide intermamillary distance	3/7	OMIM:616038
29968	PSAT1	HP:0011196	EEG with focal sharp waves	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
29968	PSAT1	HP:0030215	Inappropriate crying	HP:0040281	ORPHA:284417
29968	PSAT1	HP:0012448	Delayed myelination	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0000457	Depressed nasal ridge	-	OMIM:616038
29968	PSAT1	HP:0000474	Thickened nuchal skin fold	HP:0040282	ORPHA:284417
29968	PSAT1	HP:0000470	Short neck	11/12	OMIM:616038
29968	PSAT1	HP:0000470	Short neck	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0000470	Short neck	1/7	OMIM:615777
29968	PSAT1	HP:0001770	Toe syndactyly	7/12	OMIM:616038
29968	PSAT1	HP:0012430	Cerebral white matter hypoplasia	HP:0040282	ORPHA:284417
29968	PSAT1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
29968	PSAT1	HP:0001763	Pes planus	1/7	OMIM:615777
29968	PSAT1	HP:0001776	Bilateral talipes equinovarus	HP:0040283	ORPHA:284417
29968	PSAT1	HP:0005484	Secondary microcephaly	-	OMIM:610992
29968	PSAT1	HP:0000518	Cataract	2/7	OMIM:616038
29968	PSAT1	HP:0001840	Metatarsus adductus	-	OMIM:615777
29968	PSAT1	HP:0000520	Proptosis	2/4	OMIM:131300
29968	PSAT1	HP:0000520	Proptosis	9/12	OMIM:616038
29968	PSAT1	HP:0000520	Proptosis	7/7	OMIM:615777
29968	PSAT1	HP:0001838	Rocker bottom foot	12/12	OMIM:616038
29968	PSAT1	HP:0000592	Blue sclerae	2/7	OMIM:615777
29968	PSAT1	HP:0011224	Ablepharon	9/12	OMIM:616038
29968	PSAT1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
29968	PSAT1	HP:0012514	Lower limb pain	4/4	OMIM:131300
29969	MDFIC	HP:0003811	Neonatal death	1/7	OMIM:620014
29969	MDFIC	HP:0000023	Inguinal hernia	2/5	OMIM:620014
29969	MDFIC	HP:0000034	Hydrocele testis	3/5	OMIM:620014
29969	MDFIC	HP:0000007	Autosomal recessive inheritance	-	OMIM:620014
29969	MDFIC	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
29969	MDFIC	HP:0002643	Neonatal respiratory distress	4/7	OMIM:620014
29969	MDFIC	HP:0002619	Varicose veins	-	OMIM:153400
29969	MDFIC	HP:0000175	Cleft palate	5/39	OMIM:153400
29969	MDFIC	HP:0003577	Congenital onset	2/7	OMIM:620014
29969	MDFIC	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
29969	MDFIC	HP:0009743	Distichiasis	42/42	OMIM:153400
29969	MDFIC	HP:0200117	Recurrent upper and lower respiratory tract infections	1/5	OMIM:620014
29969	MDFIC	HP:0001004	Lymphedema	-	OMIM:153400
29969	MDFIC	HP:0001004	Lymphedema	7/7	OMIM:620014
29969	MDFIC	HP:0100658	Cellulitis	2/6	OMIM:153400
29969	MDFIC	HP:0000613	Photophobia	10/49	OMIM:153400
29969	MDFIC	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
29969	MDFIC	HP:0000656	Ectropion	2/43	OMIM:153400
29969	MDFIC	HP:0031944	Pleural thickening	1/2	OMIM:620014
29969	MDFIC	HP:0034197	Third trimester onset	2/7	OMIM:620014
29969	MDFIC	HP:0034198	Second trimester onset	3/7	OMIM:620014
29969	MDFIC	HP:0003011	Abnormality of the musculature	-	OMIM:153400
29969	MDFIC	HP:0011421	Death in adolescence	1/7	OMIM:620014
29969	MDFIC	HP:0012804	Corneal ulceration	-	OMIM:153400
29969	MDFIC	HP:0010310	Chylothorax	1/6	OMIM:153400
29969	MDFIC	HP:0000962	Hyperkeratosis	1/5	OMIM:620014
29969	MDFIC	HP:0011675	Arrhythmia	-	OMIM:153400
29969	MDFIC	HP:0002808	Kyphosis	2/5	OMIM:153400
29969	MDFIC	HP:0001561	Polyhydramnios	2/5	OMIM:620014
29969	MDFIC	HP:0000204	Cleft upper lip	-	OMIM:153400
29969	MDFIC	HP:0025677	Fetal chylothorax	6/6	OMIM:620014
29969	MDFIC	HP:0025671	Fetal pericardial effusion	2/5	OMIM:620014
29969	MDFIC	HP:0025676	Fetal pleural effusion	7/7	OMIM:620014
29969	MDFIC	HP:0000347	Micrognathia	2/5	OMIM:153400
29969	MDFIC	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
29969	MDFIC	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
29969	MDFIC	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
29969	MDFIC	HP:0000476	Cystic hygroma	2/43	OMIM:153400
29969	MDFIC	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
29969	MDFIC	HP:0001791	Fetal ascites	5/5	OMIM:620014
29969	MDFIC	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
29969	MDFIC	HP:0001790	Nonimmune hydrops fetalis	5/7	OMIM:620014
29969	MDFIC	HP:0000465	Webbed neck	6/43	OMIM:153400
29969	MDFIC	HP:0000509	Conjunctivitis	-	OMIM:153400
29969	MDFIC	HP:0000508	Ptosis	2/39	OMIM:153400
29969	MDFIC	HP:0000568	Microphthalmia	1/6	OMIM:153400
29978	UBQLN2	HP:0002463	Language impairment	HP:0040283	ORPHA:803
29978	UBQLN2	HP:0001260	Dysarthria	-	OMIM:300857
29978	UBQLN2	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0001257	Spasticity	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
29978	UBQLN2	HP:0007354	Amyotrophic lateral sclerosis	34/40	OMIM:300857
29978	UBQLN2	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
29978	UBQLN2	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
29978	UBQLN2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0001332	Dystonia	-	OMIM:300857
29978	UBQLN2	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
29978	UBQLN2	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
29978	UBQLN2	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0001423	X-linked dominant inheritance	-	OMIM:300857
29978	UBQLN2	HP:0002015	Dysphagia	-	OMIM:300857
29978	UBQLN2	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
29978	UBQLN2	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
29978	UBQLN2	HP:0002145	Frontotemporal dementia	7/40	OMIM:300857
29978	UBQLN2	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
29978	UBQLN2	HP:0003470	Paralysis	-	OMIM:300857
29978	UBQLN2	HP:0003470	Paralysis	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0003447	Axonal loss	-	OMIM:300857
29978	UBQLN2	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
29978	UBQLN2	HP:0002171	Gliosis	-	OMIM:300857
29978	UBQLN2	HP:0003596	Middle age onset	16/35	OMIM:300857
29978	UBQLN2	HP:0003584	Late onset	3/35	OMIM:300857
29978	UBQLN2	HP:0003581	Adult onset	-	OMIM:300857
29978	UBQLN2	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
29978	UBQLN2	HP:0003676	Progressive	-	OMIM:300857
29978	UBQLN2	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
29978	UBQLN2	HP:0002307	Drooling	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0002305	Athetosis	-	OMIM:300857
29978	UBQLN2	HP:0003621	Juvenile onset	1/35	OMIM:300857
29978	UBQLN2	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
29978	UBQLN2	HP:0004326	Cachexia	HP:0040283	ORPHA:803
29978	UBQLN2	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0000739	Anxiety	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0000716	Depression	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0011462	Young adult onset	15/35	OMIM:300857
29978	UBQLN2	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
29978	UBQLN2	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0012378	Fatigue	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0001824	Weight loss	HP:0040282	ORPHA:803
29978	UBQLN2	HP:0012531	Pain	HP:0040282	ORPHA:803
29980	DONSON	HP:0001156	Brachydactyly	2/29	OMIM:617604
29980	DONSON	HP:0009879	Simplified gyral pattern	1/29	OMIM:617604
29980	DONSON	HP:0009879	Simplified gyral pattern	-	OMIM:251230
29980	DONSON	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
29980	DONSON	HP:0002410	Aqueductal stenosis	-	OMIM:251230
29980	DONSON	HP:0001293	Cranial nerve compression	-	OMIM:131300
29980	DONSON	HP:0001256	Intellectual disability, mild	15/29	OMIM:617604
29980	DONSON	HP:0001252	Hypotonia	2/7	OMIM:615777
29980	DONSON	HP:0001249	Intellectual disability	5/7	OMIM:615777
29980	DONSON	HP:0001263	Global developmental delay	15/29	OMIM:617604
29980	DONSON	HP:0001263	Global developmental delay	-	OMIM:615777
29980	DONSON	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	-	OMIM:251230
29980	DONSON	HP:0002515	Waddling gait	54/102	OMIM:131300
29980	DONSON	HP:0003811	Neonatal death	-	OMIM:251230
29980	DONSON	HP:0001382	Joint hypermobility	-	OMIM:615777
29980	DONSON	HP:0001363	Craniosynostosis	-	OMIM:251230
29980	DONSON	HP:0002694	Sclerosis of skull base	-	OMIM:131300
29980	DONSON	HP:0008897	Postnatal growth retardation	-	OMIM:615777
29980	DONSON	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
29980	DONSON	HP:0001324	Muscle weakness	40/96	OMIM:131300
29980	DONSON	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
29980	DONSON	HP:0000007	Autosomal recessive inheritance	-	OMIM:617604
29980	DONSON	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
29980	DONSON	HP:0000007	Autosomal recessive inheritance	-	OMIM:251230
29980	DONSON	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
29980	DONSON	HP:0002650	Scoliosis	12/14	OMIM:131300
29980	DONSON	HP:0003974	Absent radius	-	OMIM:251230
29980	DONSON	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
29980	DONSON	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
29980	DONSON	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
29980	DONSON	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
29980	DONSON	HP:0012165	Oligodactyly	-	OMIM:251230
29980	DONSON	HP:0000160	Narrow mouth	-	OMIM:251230
29980	DONSON	HP:0000175	Cleft palate	2/7	OMIM:615777
29980	DONSON	HP:0000175	Cleft palate	-	OMIM:251230
29980	DONSON	HP:0002750	Delayed skeletal maturation	6/29	OMIM:617604
29980	DONSON	HP:0002089	Pulmonary hypoplasia	-	OMIM:251230
29980	DONSON	HP:0003388	Easy fatigability	36/76	OMIM:131300
29980	DONSON	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
29980	DONSON	HP:0003577	Congenital onset	-	OMIM:617604
29980	DONSON	HP:0003577	Congenital onset	-	OMIM:251230
29980	DONSON	HP:0003510	Severe short stature	7/7	OMIM:615777
29980	DONSON	HP:0002315	Headache	-	OMIM:131300
29980	DONSON	HP:0004976	Knee dislocation	6/7	OMIM:615777
29980	DONSON	HP:0009821	Forearm undergrowth	-	OMIM:251230
29980	DONSON	HP:0009803	Short phalanx of finger	-	OMIM:615777
29980	DONSON	HP:0009777	Absent thumb	-	OMIM:251230
29980	DONSON	HP:0009763	Limb pain	63/92	OMIM:131300
29980	DONSON	HP:0003621	Juvenile onset	-	OMIM:131300
29980	DONSON	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
29980	DONSON	HP:0004209	Clinodactyly of the 5th finger	7/29	OMIM:617604
29980	DONSON	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
29980	DONSON	HP:6001056	Out-toeing	-	OMIM:131300
29980	DONSON	HP:0000651	Diplopia	-	OMIM:131300
29980	DONSON	HP:0001956	Truncal obesity	2/7	OMIM:615777
29980	DONSON	HP:0001903	Anemia	HP:0040283	OMIM:131300
29980	DONSON	HP:0010049	Short metacarpal	-	OMIM:615777
29980	DONSON	HP:0010049	Short metacarpal	3/29	OMIM:617604
29980	DONSON	HP:0000678	Dental crowding	-	OMIM:615777
29980	DONSON	HP:0000670	Carious teeth	-	OMIM:131300
29980	DONSON	HP:0011304	Broad thumb	2/7	OMIM:615777
29980	DONSON	HP:0000668	Hypodontia	-	OMIM:615777
29980	DONSON	HP:0000664	Synophrys	-	OMIM:615777
29980	DONSON	HP:0004322	Short stature	29/29	OMIM:617604
29980	DONSON	HP:0003083	Dislocated radial head	2/29	OMIM:617604
29980	DONSON	HP:0004396	Poor appetite	-	OMIM:131300
29980	DONSON	HP:0003065	Patellar hypoplasia	2/29	OMIM:617604
29980	DONSON	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
29980	DONSON	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
29980	DONSON	HP:0003041	Humeroradial synostosis	-	OMIM:251230
29980	DONSON	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
29980	DONSON	HP:0003026	Short long bone	7/7	OMIM:615777
29980	DONSON	HP:0003027	Mesomelia	2/29	OMIM:617604
29980	DONSON	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
29980	DONSON	HP:0012745	Short palpebral fissure	-	OMIM:251230
29980	DONSON	HP:0000767	Pectus excavatum	2/7	OMIM:615777
29980	DONSON	HP:0000768	Pectus carinatum	1/7	OMIM:615777
29980	DONSON	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
29980	DONSON	HP:0000750	Delayed speech and language development	-	OMIM:615777
29980	DONSON	HP:0011461	Fetal onset	7/7	OMIM:615777
29980	DONSON	HP:0000774	Narrow chest	2/7	OMIM:615777
29980	DONSON	HP:0000774	Narrow chest	-	OMIM:251230
29980	DONSON	HP:0005736	Short tibia	-	OMIM:251230
29980	DONSON	HP:0000926	Platyspondyly	1/7	OMIM:615777
29980	DONSON	HP:0000921	Missing ribs	-	OMIM:251230
29980	DONSON	HP:0003180	Flat acetabular roof	-	OMIM:615777
29980	DONSON	HP:0004482	Relative macrocephaly	-	OMIM:615777
29980	DONSON	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
29980	DONSON	HP:0000878	11 pairs of ribs	1/29	OMIM:617604
29980	DONSON	HP:0000823	Delayed puberty	-	OMIM:131300
29980	DONSON	HP:0000894	Short clavicles	-	OMIM:615777
29980	DONSON	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
29980	DONSON	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
29980	DONSON	HP:0000286	Epicanthus	1/7	OMIM:615777
29980	DONSON	HP:0000280	Coarse facial features	2/7	OMIM:615777
29980	DONSON	HP:0006443	Patellar aplasia	2/29	OMIM:617604
29980	DONSON	HP:0002827	Hip dislocation	3/7	OMIM:615777
29980	DONSON	HP:0000252	Microcephaly	29/29	OMIM:617604
29980	DONSON	HP:0000252	Microcephaly	-	OMIM:615777
29980	DONSON	HP:0000252	Microcephaly	2/2	OMIM:251230
29980	DONSON	HP:0001562	Oligohydramnios	1/29	OMIM:617604
29980	DONSON	HP:0001562	Oligohydramnios	-	OMIM:251230
29980	DONSON	HP:0002857	Genu valgum	-	OMIM:131300
29980	DONSON	HP:0001533	Slender build	-	OMIM:131300
29980	DONSON	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
29980	DONSON	HP:0001511	Intrauterine growth retardation	-	OMIM:617604
29980	DONSON	HP:0001511	Intrauterine growth retardation	-	OMIM:251230
29980	DONSON	HP:0007807	Optic nerve compression	-	OMIM:131300
29980	DONSON	HP:0012368	Flat face	7/7	OMIM:615777
29980	DONSON	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
29980	DONSON	HP:0000365	Hearing impairment	10/67	OMIM:131300
29980	DONSON	HP:0000369	Low-set ears	-	OMIM:251230
29980	DONSON	HP:0000343	Long philtrum	1/7	OMIM:615777
29980	DONSON	HP:0011001	Increased bone mineral density	-	OMIM:131300
29980	DONSON	HP:0000347	Micrognathia	-	OMIM:251230
29980	DONSON	HP:0002983	Micromelia	-	OMIM:251230
29980	DONSON	HP:0000311	Round face	2/7	OMIM:615777
29980	DONSON	HP:0002974	Radioulnar synostosis	1/29	OMIM:617604
29980	DONSON	HP:0002984	Hypoplasia of the radius	1/29	OMIM:617604
29980	DONSON	HP:0002970	Genu varum	-	OMIM:615777
29980	DONSON	HP:0000303	Mandibular prognathia	-	OMIM:131300
29980	DONSON	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
29980	DONSON	HP:0000476	Cystic hygroma	-	OMIM:251230
29980	DONSON	HP:0000470	Short neck	1/7	OMIM:615777
29980	DONSON	HP:0000470	Short neck	-	OMIM:251230
29980	DONSON	HP:0001769	Broad foot	HP:0040283	OMIM:615777
29980	DONSON	HP:0001763	Pes planus	1/7	OMIM:615777
29980	DONSON	HP:0000444	Convex nasal ridge	5/29	OMIM:617604
29980	DONSON	HP:0000444	Convex nasal ridge	-	OMIM:251230
29980	DONSON	HP:0000445	Wide nose	-	OMIM:251230
29980	DONSON	HP:0001762	Talipes equinovarus	-	OMIM:251230
29980	DONSON	HP:0001840	Metatarsus adductus	-	OMIM:615777
29980	DONSON	HP:0000520	Proptosis	2/4	OMIM:131300
29980	DONSON	HP:0000520	Proptosis	7/7	OMIM:615777
29980	DONSON	HP:0000582	Upslanted palpebral fissure	3/29	OMIM:617604
29980	DONSON	HP:0000592	Blue sclerae	2/7	OMIM:615777
29980	DONSON	HP:0000568	Microphthalmia	-	OMIM:251230
29980	DONSON	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
29980	DONSON	HP:0012514	Lower limb pain	4/4	OMIM:131300
29995	LMCD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
29995	LMCD1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
29995	LMCD1	HP:0004467	Preauricular pit	-	OMIM:187500
29995	LMCD1	HP:0000337	Broad forehead	-	OMIM:187500
29995	LMCD1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
29995	LMCD1	HP:0000520	Proptosis	-	OMIM:187500
29998	BICRA	HP:0010953	Noncommunicating hydrocephalus	1/12	OMIM:619325
29998	BICRA	HP:0410170	Hippocampal atrophy	1/12	OMIM:619325
29998	BICRA	HP:0020206	Simple ear	1/12	OMIM:619325
29998	BICRA	HP:0009890	High anterior hairline	4/12	OMIM:619325
29998	BICRA	HP:0001250	Seizure	2/12	OMIM:619325
29998	BICRA	HP:0001252	Hypotonia	4/12	OMIM:619325
29998	BICRA	HP:0001249	Intellectual disability	12/12	OMIM:619325
29998	BICRA	HP:0001263	Global developmental delay	12/12	OMIM:619325
29998	BICRA	HP:0001238	Slender finger	1/12	OMIM:619325
29998	BICRA	HP:0002553	Highly arched eyebrow	3/12	OMIM:619325
29998	BICRA	HP:0000085	Horseshoe kidney	2/12	OMIM:619325
29998	BICRA	HP:0001382	Joint hypermobility	3/12	OMIM:619325
29998	BICRA	HP:0000047	Hypospadias	1/8	OMIM:619325
29998	BICRA	HP:0000028	Cryptorchidism	1/8	OMIM:619325
29998	BICRA	HP:0012081	Enlarged cerebellum	1/12	OMIM:619325
29998	BICRA	HP:0000006	Autosomal dominant inheritance	-	OMIM:619325
29998	BICRA	HP:0002650	Scoliosis	2/11	OMIM:619325
29998	BICRA	HP:0002608	Celiac disease	1/12	OMIM:619325
29998	BICRA	HP:0000176	Submucous cleft hard palate	1/12	OMIM:619325
29998	BICRA	HP:0002020	Gastroesophageal reflux	2/12	OMIM:619325
29998	BICRA	HP:0002007	Frontal bossing	4/12	OMIM:619325
29998	BICRA	HP:0011800	Midface retrusion	2/12	OMIM:619325
29998	BICRA	HP:0002057	Prominent glabella	2/12	OMIM:619325
29998	BICRA	HP:0002209	Sparse scalp hair	2/12	OMIM:619325
29998	BICRA	HP:0009748	Large earlobe	1/12	OMIM:619325
29998	BICRA	HP:0011968	Feeding difficulties	7/12	OMIM:619325
29998	BICRA	HP:0010628	Facial palsy	1/12	OMIM:619325
29998	BICRA	HP:0002360	Sleep abnormality	2/12	OMIM:619325
29998	BICRA	HP:0002376	Developmental regression	1/12	OMIM:619325
29998	BICRA	HP:0010823	Ridged cranial sutures	2/12	OMIM:619325
29998	BICRA	HP:0009778	Short thumb	1/12	OMIM:619325
29998	BICRA	HP:0009765	Low hanging columella	3/12	OMIM:619325
29998	BICRA	HP:0002308	Chiari malformation	1/12	OMIM:619325
29998	BICRA	HP:0000601	Hypotelorism	1/12	OMIM:619325
29998	BICRA	HP:0011304	Broad thumb	1/12	OMIM:619325
29998	BICRA	HP:0000664	Synophrys	4/12	OMIM:619325
29998	BICRA	HP:0004322	Short stature	3/12	OMIM:619325
29998	BICRA	HP:0000767	Pectus excavatum	2/12	OMIM:619325
29998	BICRA	HP:0012725	Cutaneous syndactyly	2/12	OMIM:619325
29998	BICRA	HP:0000733	Motor stereotypy	2/12	OMIM:619325
29998	BICRA	HP:0000729	Autistic behavior	5/12	OMIM:619325
29998	BICRA	HP:0000708	Atypical behavior	5/12	OMIM:619325
29998	BICRA	HP:0004453	Overfolding of the superior helices	1/12	OMIM:619325
29998	BICRA	HP:0003186	Inverted nipples	1/12	OMIM:619325
29998	BICRA	HP:0000821	Hypothyroidism	1/12	OMIM:619325
29998	BICRA	HP:0045025	Narrow palpebral fissure	3/12	OMIM:619325
29998	BICRA	HP:0000286	Epicanthus	7/12	OMIM:619325
29998	BICRA	HP:0000293	Full cheeks	2/12	OMIM:619325
29998	BICRA	HP:0000294	Low anterior hairline	3/12	OMIM:619325
29998	BICRA	HP:0000256	Macrocephaly	1/12	OMIM:619325
29998	BICRA	HP:0000270	Delayed cranial suture closure	1/12	OMIM:619325
29998	BICRA	HP:0000268	Dolichocephaly	1/12	OMIM:619325
29998	BICRA	HP:0000252	Microcephaly	3/12	OMIM:619325
29998	BICRA	HP:0000220	Velopharyngeal insufficiency	1/12	OMIM:619325
29998	BICRA	HP:0000218	High palate	5/12	OMIM:619325
29998	BICRA	HP:0001508	Failure to thrive	5/12	OMIM:619325
29998	BICRA	HP:0030043	Hip subluxation	1/12	OMIM:619325
29998	BICRA	HP:0000395	Prominent antihelix	1/12	OMIM:619325
29998	BICRA	HP:0030190	Oral motor hypotonia	1/12	OMIM:619325
29998	BICRA	HP:0002910	Elevated circulating hepatic transaminase concentration	1/12	OMIM:619325
29998	BICRA	HP:0000358	Posteriorly rotated ears	3/12	OMIM:619325
29998	BICRA	HP:0000369	Low-set ears	4/12	OMIM:619325
29998	BICRA	HP:0000341	Narrow forehead	4/12	OMIM:619325
29998	BICRA	HP:0000347	Micrognathia	3/12	OMIM:619325
29998	BICRA	HP:0000316	Hypertelorism	2/12	OMIM:619325
29998	BICRA	HP:0002974	Radioulnar synostosis	1/11	OMIM:619325
29998	BICRA	HP:0030148	Heart murmur	2/12	OMIM:619325
29998	BICRA	HP:0001655	Patent foramen ovale	1/12	OMIM:619325
29998	BICRA	HP:0001636	Tetralogy of Fallot	1/12	OMIM:619325
29998	BICRA	HP:0000307	Pointed chin	1/12	OMIM:619325
29998	BICRA	HP:0000407	Sensorineural hearing impairment	1/12	OMIM:619325
29998	BICRA	HP:0005274	Prominent nasal tip	7/12	OMIM:619325
29998	BICRA	HP:0005280	Depressed nasal bridge	1/12	OMIM:619325
29998	BICRA	HP:0000486	Strabismus	5/12	OMIM:619325
29998	BICRA	HP:0000494	Downslanted palpebral fissures	5/12	OMIM:619325
29998	BICRA	HP:0000490	Deeply set eye	3/12	OMIM:619325
29998	BICRA	HP:0001792	Small nail	3/12	OMIM:619325
29998	BICRA	HP:0000463	Anteverted nares	2/12	OMIM:619325
29998	BICRA	HP:0012450	Chronic constipation	4/12	OMIM:619325
29998	BICRA	HP:0000414	Bulbous nose	5/12	OMIM:619325
29998	BICRA	HP:0000411	Protruding ear	2/12	OMIM:619325
29998	BICRA	HP:0000430	Underdeveloped nasal alae	2/12	OMIM:619325
29998	BICRA	HP:0000426	Prominent nasal bridge	5/12	OMIM:619325
29998	BICRA	HP:0000527	Long eyelashes	4/12	OMIM:619325
29998	BICRA	HP:0000582	Upslanted palpebral fissure	2/12	OMIM:619325
29998	BICRA	HP:0000574	Thick eyebrow	3/12	OMIM:619325
29998	BICRA	HP:0000540	Hypermetropia	3/11	OMIM:619325
29998	BICRA	HP:0000545	Myopia	1/11	OMIM:619325
30000	TNPO2	HP:0001276	Hypertonia	2/15	OMIM:619556
30000	TNPO2	HP:0001250	Seizure	6/15	OMIM:619556
30000	TNPO2	HP:0001252	Hypotonia	11/15	OMIM:619556
30000	TNPO2	HP:0001251	Ataxia	-	OMIM:619556
30000	TNPO2	HP:0001249	Intellectual disability	9/9	OMIM:619556
30000	TNPO2	HP:0001263	Global developmental delay	15/15	OMIM:619556
30000	TNPO2	HP:0002540	Inability to walk	3/15	OMIM:619556
30000	TNPO2	HP:0001344	Absent speech	4/15	OMIM:619556
30000	TNPO2	HP:0001337	Tremor	-	OMIM:619556
30000	TNPO2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619556
30000	TNPO2	HP:0001321	Cerebellar hypoplasia	3/13	OMIM:619556
30000	TNPO2	HP:0002058	Myopathic facies	-	OMIM:619556
30000	TNPO2	HP:0002119	Ventriculomegaly	-	OMIM:619556
30000	TNPO2	HP:0002188	Delayed CNS myelination	-	OMIM:619556
30000	TNPO2	HP:0002265	Large fleshy ears	-	OMIM:619556
30000	TNPO2	HP:0003593	Infantile onset	-	OMIM:619556
30000	TNPO2	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:619556
30000	TNPO2	HP:0011968	Feeding difficulties	-	OMIM:619556
30000	TNPO2	HP:0000750	Delayed speech and language development	15/15	OMIM:619556
30000	TNPO2	HP:0000729	Autistic behavior	-	OMIM:619556
30000	TNPO2	HP:0000280	Coarse facial features	-	OMIM:619556
30000	TNPO2	HP:0000278	Retrognathia	-	OMIM:619556
30000	TNPO2	HP:0000252	Microcephaly	5/15	OMIM:619556
30000	TNPO2	HP:0000232	Everted lower lip vermilion	-	OMIM:619556
30000	TNPO2	HP:0001508	Failure to thrive	-	OMIM:619556
30000	TNPO2	HP:0000341	Narrow forehead	-	OMIM:619556
30000	TNPO2	HP:0000343	Long philtrum	-	OMIM:619556
30000	TNPO2	HP:0000322	Short philtrum	-	OMIM:619556
30000	TNPO2	HP:0000483	Astigmatism	4/15	OMIM:619556
30000	TNPO2	HP:0000486	Strabismus	7/15	OMIM:619556
30000	TNPO2	HP:0000431	Wide nasal bridge	-	OMIM:619556
30000	TNPO2	HP:0000426	Prominent nasal bridge	-	OMIM:619556
30000	TNPO2	HP:0000540	Hypermetropia	4/15	OMIM:619556
30000	TNPO2	HP:0000545	Myopia	4/15	OMIM:619556
30008	EFEMP2	HP:0009901	Crumpled ear	90/119	OMIM:121050
30008	EFEMP2	HP:0001181	Adducted thumb	42/90	OMIM:121050
30008	EFEMP2	HP:0001166	Arachnodactyly	104/124	OMIM:121050
30008	EFEMP2	HP:0001166	Arachnodactyly	2/2	OMIM:614437
30008	EFEMP2	HP:0001166	Arachnodactyly	124/197	OMIM:154700
30008	EFEMP2	HP:0001166	Arachnodactyly	34/37	OMIM:182212
30008	EFEMP2	HP:0001166	Arachnodactyly	6/15	OMIM:208050
30008	EFEMP2	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0025167	Fragmented elastic fibers in the dermis	HP:0040281	ORPHA:90349
30008	EFEMP2	HP:0002414	Spina bifida	1/1	OMIM:614437
30008	EFEMP2	HP:0003745	Sporadic	-	OMIM:182212
30008	EFEMP2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
30008	EFEMP2	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
30008	EFEMP2	HP:0001297	Stroke	1/3	OMIM:614437
30008	EFEMP2	HP:0001297	Stroke	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0001290	Generalized hypotonia	-	OMIM:208050
30008	EFEMP2	HP:0001290	Generalized hypotonia	-	OMIM:182212
30008	EFEMP2	HP:0100807	Long fingers	1/3	OMIM:614437
30008	EFEMP2	HP:0001270	Motor delay	-	OMIM:121050
30008	EFEMP2	HP:0001270	Motor delay	HP:0040282	ORPHA:90349
30008	EFEMP2	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
30008	EFEMP2	HP:0001252	Hypotonia	1/1	OMIM:614437
30008	EFEMP2	HP:0001252	Hypotonia	26/37	OMIM:182212
30008	EFEMP2	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
30008	EFEMP2	HP:0001249	Intellectual disability	-	OMIM:182212
30008	EFEMP2	HP:0001263	Global developmental delay	-	OMIM:182212
30008	EFEMP2	HP:0002576	Intussusception	1/1	OMIM:614437
30008	EFEMP2	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
30008	EFEMP2	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
30008	EFEMP2	HP:0008722	Urethral diverticulum	HP:0040283	ORPHA:90349
30008	EFEMP2	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
30008	EFEMP2	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
30008	EFEMP2	HP:0003819	Death in childhood	1/3	OMIM:614437
30008	EFEMP2	HP:0003811	Neonatal death	2/2	OMIM:614437
30008	EFEMP2	HP:0000098	Tall stature	-	OMIM:154700
30008	EFEMP2	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:90349
30008	EFEMP2	HP:0001377	Limited elbow extension	94/109	OMIM:121050
30008	EFEMP2	HP:0001377	Limited elbow extension	29/199	OMIM:154700
30008	EFEMP2	HP:0001371	Flexion contracture	-	OMIM:208050
30008	EFEMP2	HP:0001371	Flexion contracture	-	OMIM:154700
30008	EFEMP2	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:90349
30008	EFEMP2	HP:0001382	Joint hypermobility	1/1	OMIM:130050
30008	EFEMP2	HP:0001382	Joint hypermobility	12/14	OMIM:208050
30008	EFEMP2	HP:0001382	Joint hypermobility	1/3	OMIM:614437
30008	EFEMP2	HP:0001382	Joint hypermobility	11/53	OMIM:154700
30008	EFEMP2	HP:0001382	Joint hypermobility	31/47	OMIM:182212
30008	EFEMP2	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:90349
30008	EFEMP2	HP:0000023	Inguinal hernia	11/11	OMIM:130050
30008	EFEMP2	HP:0000023	Inguinal hernia	8/15	OMIM:208050
30008	EFEMP2	HP:0000023	Inguinal hernia	1/1	OMIM:614437
30008	EFEMP2	HP:0000023	Inguinal hernia	19/34	OMIM:182212
30008	EFEMP2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0001363	Craniosynostosis	18/37	OMIM:182212
30008	EFEMP2	HP:0000028	Cryptorchidism	1/1	OMIM:130050
30008	EFEMP2	HP:0000028	Cryptorchidism	1/13	OMIM:182212
30008	EFEMP2	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
30008	EFEMP2	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
30008	EFEMP2	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
30008	EFEMP2	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
30008	EFEMP2	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
30008	EFEMP2	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:90349
30008	EFEMP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
30008	EFEMP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614437
30008	EFEMP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
30008	EFEMP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
30008	EFEMP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
30008	EFEMP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
30008	EFEMP2	HP:0002650	Scoliosis	16/53	OMIM:154700
30008	EFEMP2	HP:0002650	Scoliosis	11/15	OMIM:121050
30008	EFEMP2	HP:0002650	Scoliosis	3/15	OMIM:208050
30008	EFEMP2	HP:0002650	Scoliosis	23/37	OMIM:182212
30008	EFEMP2	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0002647	Aortic dissection	1/58	OMIM:154700
30008	EFEMP2	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0002619	Varicose veins	-	OMIM:130050
30008	EFEMP2	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
30008	EFEMP2	HP:0002616	Aortic root aneurysm	1/1	OMIM:614437
30008	EFEMP2	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
30008	EFEMP2	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
30008	EFEMP2	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0002617	Vascular dilatation	HP:0040283	ORPHA:90349
30008	EFEMP2	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
30008	EFEMP2	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
30008	EFEMP2	HP:0000189	Narrow palate	-	OMIM:182212
30008	EFEMP2	HP:0000189	Narrow palate	-	OMIM:154700
30008	EFEMP2	HP:0000193	Bifid uvula	0/14	OMIM:208050
30008	EFEMP2	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
30008	EFEMP2	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0012151	Hemothorax	3/4	OMIM:130050
30008	EFEMP2	HP:0000139	Uterine prolapse	-	OMIM:130050
30008	EFEMP2	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
30008	EFEMP2	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
30008	EFEMP2	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
30008	EFEMP2	HP:0002756	Pathologic fracture	HP:0040282	ORPHA:90349
30008	EFEMP2	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
30008	EFEMP2	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
30008	EFEMP2	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:90349
30008	EFEMP2	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
30008	EFEMP2	HP:0002036	Hiatus hernia	-	OMIM:208050
30008	EFEMP2	HP:0002007	Frontal bossing	-	OMIM:121050
30008	EFEMP2	HP:0002007	Frontal bossing	-	OMIM:182212
30008	EFEMP2	HP:0003302	Spondylolisthesis	-	OMIM:154700
30008	EFEMP2	HP:0002097	Emphysema	1/1	OMIM:614437
30008	EFEMP2	HP:0002097	Emphysema	8/9	OMIM:130050
30008	EFEMP2	HP:0002097	Emphysema	HP:0040283	OMIM:154700
30008	EFEMP2	HP:0002097	Emphysema	HP:0040281	ORPHA:90349
30008	EFEMP2	HP:0002092	Pulmonary arterial hypertension	1/1	OMIM:614437
30008	EFEMP2	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:90349
30008	EFEMP2	HP:0030961	Microspherophakia	2/53	OMIM:154700
30008	EFEMP2	HP:0010444	Pulmonic regurgitation	-	OMIM:614437
30008	EFEMP2	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
30008	EFEMP2	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
30008	EFEMP2	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
30008	EFEMP2	HP:0010499	Patellar subluxation	12/22	OMIM:121050
30008	EFEMP2	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
30008	EFEMP2	HP:0002140	Ischemic stroke	-	OMIM:208050
30008	EFEMP2	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
30008	EFEMP2	HP:0002107	Pneumothorax	2/2	OMIM:130050
30008	EFEMP2	HP:0002107	Pneumothorax	6/53	OMIM:154700
30008	EFEMP2	HP:0002107	Pneumothorax	HP:0040282	ORPHA:90349
30008	EFEMP2	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0002105	Hemoptysis	6/10	OMIM:130050
30008	EFEMP2	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
30008	EFEMP2	HP:0003593	Infantile onset	5/16	OMIM:208050
30008	EFEMP2	HP:0003577	Congenital onset	5/5	OMIM:121050
30008	EFEMP2	HP:0003577	Congenital onset	12/26	OMIM:208050
30008	EFEMP2	HP:0003577	Congenital onset	2/2	OMIM:614437
30008	EFEMP2	HP:0002256	Small bowel diverticula	HP:0040283	ORPHA:90349
30008	EFEMP2	HP:0100718	Uterine rupture	-	OMIM:130050
30008	EFEMP2	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
30008	EFEMP2	HP:0004872	Incisional hernia	-	OMIM:154700
30008	EFEMP2	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
30008	EFEMP2	HP:0100775	Dural ectasia	112/140	OMIM:154700
30008	EFEMP2	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0100790	Hernia	HP:0040282	ORPHA:90349
30008	EFEMP2	HP:0100749	Chest pain	1/2	OMIM:130050
30008	EFEMP2	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
30008	EFEMP2	HP:0002293	Alopecia of scalp	-	OMIM:130050
30008	EFEMP2	HP:0034671	Knee contracture	7/14	OMIM:121050
30008	EFEMP2	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
30008	EFEMP2	HP:0010648	Dermal translucency	3/3	OMIM:130050
30008	EFEMP2	HP:0010648	Dermal translucency	1/1	OMIM:614437
30008	EFEMP2	HP:0007099	Chiari type I malformation	-	OMIM:182212
30008	EFEMP2	HP:0025019	Arterial rupture	-	OMIM:130050
30008	EFEMP2	HP:0001065	Striae distensae	11/53	OMIM:154700
30008	EFEMP2	HP:0001030	Fragile skin	-	OMIM:130050
30008	EFEMP2	HP:0001027	Soft, doughy skin	-	OMIM:208050
30008	EFEMP2	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0100645	Cystocele	-	OMIM:130050
30008	EFEMP2	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:90349
30008	EFEMP2	HP:0001073	Cigarette-paper scars	-	OMIM:130050
30008	EFEMP2	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
30008	EFEMP2	HP:0001083	Ectopia lentis	119/251	OMIM:154700
30008	EFEMP2	HP:0032153	Joint subluxation	HP:0040282	ORPHA:90349
30008	EFEMP2	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
30008	EFEMP2	HP:0010759	Prominence of the premaxilla	-	OMIM:614437
30008	EFEMP2	HP:0010750	Dermatochalasis	HP:0040281	ORPHA:90349
30008	EFEMP2	HP:0100699	Scarring	0/1	OMIM:614437
30008	EFEMP2	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
30008	EFEMP2	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
30008	EFEMP2	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0004955	Generalized arterial tortuosity	1/1	OMIM:614437
30008	EFEMP2	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
30008	EFEMP2	HP:0003623	Neonatal onset	3/16	OMIM:208050
30008	EFEMP2	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
30008	EFEMP2	HP:0004970	Ascending tubular aorta aneurysm	1/1	OMIM:614437
30008	EFEMP2	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:90349
30008	EFEMP2	HP:0004937	Pulmonary artery aneurysm	-	OMIM:614437
30008	EFEMP2	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
30008	EFEMP2	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
30008	EFEMP2	HP:0003621	Juvenile onset	2/16	OMIM:208050
30008	EFEMP2	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0004948	Vascular tortuosity	2/2	OMIM:614437
30008	EFEMP2	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
30008	EFEMP2	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
30008	EFEMP2	HP:0004927	Pulmonary artery dilatation	-	OMIM:614437
30008	EFEMP2	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
30008	EFEMP2	HP:0012619	Multiple bladder diverticula	HP:0040283	ORPHA:90349
30008	EFEMP2	HP:0001977	Abnormal thrombosis	-	OMIM:208050
30008	EFEMP2	HP:0001903	Anemia	1/1	OMIM:130050
30008	EFEMP2	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
30008	EFEMP2	HP:0000678	Dental crowding	8/53	OMIM:154700
30008	EFEMP2	HP:0000689	Dental malocclusion	-	OMIM:182212
30008	EFEMP2	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:90349
30008	EFEMP2	HP:0004322	Short stature	-	OMIM:130050
30008	EFEMP2	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
30008	EFEMP2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:90349
30008	EFEMP2	HP:0003088	Premature osteoarthritis	-	OMIM:154700
30008	EFEMP2	HP:0003083	Dislocated radial head	5/37	OMIM:182212
30008	EFEMP2	HP:0004381	Supravalvular aortic stenosis	HP:0040283	ORPHA:90349
30008	EFEMP2	HP:0003066	Limited knee extension	38/45	OMIM:121050
30008	EFEMP2	HP:0003042	Elbow dislocation	1/12	OMIM:121050
30008	EFEMP2	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
30008	EFEMP2	HP:0005684	Distal arthrogryposis	-	OMIM:121050
30008	EFEMP2	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
30008	EFEMP2	HP:0000767	Pectus excavatum	2/14	OMIM:121050
30008	EFEMP2	HP:0000767	Pectus excavatum	1/4	OMIM:130050
30008	EFEMP2	HP:0000767	Pectus excavatum	3/15	OMIM:208050
30008	EFEMP2	HP:0000767	Pectus excavatum	1/1	OMIM:614437
30008	EFEMP2	HP:0000767	Pectus excavatum	44/146	OMIM:154700
30008	EFEMP2	HP:0000767	Pectus excavatum	-	OMIM:182212
30008	EFEMP2	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0000768	Pectus carinatum	4/14	OMIM:121050
30008	EFEMP2	HP:0000768	Pectus carinatum	2/15	OMIM:208050
30008	EFEMP2	HP:0000768	Pectus carinatum	58/146	OMIM:154700
30008	EFEMP2	HP:0000768	Pectus carinatum	-	OMIM:182212
30008	EFEMP2	HP:0000704	Periodontitis	-	OMIM:130050
30008	EFEMP2	HP:0011463	Childhood onset	1/16	OMIM:208050
30008	EFEMP2	HP:0011462	Young adult onset	3/16	OMIM:208050
30008	EFEMP2	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
30008	EFEMP2	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
30008	EFEMP2	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
30008	EFEMP2	HP:0000776	Congenital diaphragmatic hernia	1/1	OMIM:614437
30008	EFEMP2	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
30008	EFEMP2	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
30008	EFEMP2	HP:0004426	Abnormal cheek morphology	HP:0040282	ORPHA:90349
30008	EFEMP2	HP:0030799	Scaphocephaly	-	OMIM:121050
30008	EFEMP2	HP:0003199	Decreased muscle mass	-	OMIM:154700
30008	EFEMP2	HP:0000929	Abnormal skull morphology	HP:0040283	ORPHA:90349
30008	EFEMP2	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
30008	EFEMP2	HP:0000883	Thin ribs	-	OMIM:182212
30008	EFEMP2	HP:0000822	Hypertension	-	OMIM:208050
30008	EFEMP2	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
30008	EFEMP2	HP:0040044	Hypoplasia of the diaphragm	1/1	OMIM:614437
30008	EFEMP2	HP:0000895	Lateral clavicle hook	-	OMIM:182212
30008	EFEMP2	HP:0030872	Abnormal cardiac ventricular function	HP:0040283	ORPHA:90349
30008	EFEMP2	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
30008	EFEMP2	HP:0045027	Abnormality of the thoracic cavity	HP:0040282	ORPHA:90349
30008	EFEMP2	HP:0034391	Elbow contracture	10/14	OMIM:121050
30008	EFEMP2	HP:0003273	Hip contracture	32/121	OMIM:121050
30008	EFEMP2	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
30008	EFEMP2	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
30008	EFEMP2	HP:0000978	Bruising susceptibility	-	OMIM:208050
30008	EFEMP2	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0000977	Soft skin	7/15	OMIM:208050
30008	EFEMP2	HP:0000977	Soft skin	2/4	OMIM:614437
30008	EFEMP2	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
30008	EFEMP2	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
30008	EFEMP2	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
30008	EFEMP2	HP:0000973	Cutis laxa	3/3	OMIM:614437
30008	EFEMP2	HP:0000973	Cutis laxa	5/14	OMIM:208050
30008	EFEMP2	HP:0000973	Cutis laxa	HP:0040280	ORPHA:90349
30008	EFEMP2	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
30008	EFEMP2	HP:0000963	Thin skin	4/13	OMIM:208050
30008	EFEMP2	HP:0000938	Osteopenia	-	OMIM:121050
30008	EFEMP2	HP:0000938	Osteopenia	-	OMIM:182212
30008	EFEMP2	HP:0045025	Narrow palpebral fissure	1/1	OMIM:614437
30008	EFEMP2	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
30008	EFEMP2	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
30008	EFEMP2	HP:0025586	Hypertropia	8/573	OMIM:154700
30008	EFEMP2	HP:0000278	Retrognathia	1/3	OMIM:614437
30008	EFEMP2	HP:0000278	Retrognathia	-	OMIM:154700
30008	EFEMP2	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0000260	Wide anterior fontanel	-	OMIM:182212
30008	EFEMP2	HP:0000275	Narrow face	-	OMIM:154700
30008	EFEMP2	HP:0000276	Long face	14/14	OMIM:208050
30008	EFEMP2	HP:0000276	Long face	-	OMIM:154700
30008	EFEMP2	HP:0000271	Abnormality of the face	HP:0040282	ORPHA:90349
30008	EFEMP2	HP:0000272	Malar flattening	9/14	OMIM:208050
30008	EFEMP2	HP:0000272	Malar flattening	31/53	OMIM:154700
30008	EFEMP2	HP:0000268	Dolichocephaly	-	OMIM:121050
30008	EFEMP2	HP:0000268	Dolichocephaly	36/53	OMIM:154700
30008	EFEMP2	HP:0000268	Dolichocephaly	28/37	OMIM:182212
30008	EFEMP2	HP:0005136	Mitral annular calcification	-	OMIM:154700
30008	EFEMP2	HP:0005133	Right ventricular dilatation	1/1	OMIM:614437
30008	EFEMP2	HP:0005116	Arterial tortuosity	4/4	OMIM:614437
30008	EFEMP2	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0002816	Genu recurvatum	-	OMIM:182212
30008	EFEMP2	HP:0002816	Genu recurvatum	-	OMIM:154700
30008	EFEMP2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:90349
30008	EFEMP2	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
30008	EFEMP2	HP:0000244	Brachyturricephaly	-	OMIM:182212
30008	EFEMP2	HP:0000238	Hydrocephalus	13/37	OMIM:182212
30008	EFEMP2	HP:0000252	Microcephaly	HP:0040283	OMIM:614437
30008	EFEMP2	HP:0000252	Microcephaly	6/37	OMIM:182212
30008	EFEMP2	HP:0001582	Redundant skin	HP:0040281	ORPHA:90349
30008	EFEMP2	HP:0000248	Brachycephaly	-	OMIM:121050
30008	EFEMP2	HP:0001548	Overgrowth	1/1	OMIM:614437
30008	EFEMP2	HP:0000218	High palate	34/53	OMIM:154700
30008	EFEMP2	HP:0000218	High palate	30/102	OMIM:121050
30008	EFEMP2	HP:0000218	High palate	5/13	OMIM:208050
30008	EFEMP2	HP:0000218	High palate	11/13	OMIM:614437
30008	EFEMP2	HP:0000218	High palate	30/37	OMIM:182212
30008	EFEMP2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
30008	EFEMP2	HP:0001562	Oligohydramnios	2/2	OMIM:614437
30008	EFEMP2	HP:0000233	Thin vermilion border	-	OMIM:130050
30008	EFEMP2	HP:0030009	Cervical insufficiency	-	OMIM:130050
30008	EFEMP2	HP:0002857	Genu valgum	4/37	OMIM:182212
30008	EFEMP2	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
30008	EFEMP2	HP:0001537	Umbilical hernia	-	OMIM:208050
30008	EFEMP2	HP:0001537	Umbilical hernia	13/37	OMIM:182212
30008	EFEMP2	HP:0031364	Ecchymosis	-	OMIM:130050
30008	EFEMP2	HP:0001519	Disproportionate tall stature	-	OMIM:121050
30008	EFEMP2	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
30008	EFEMP2	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:90349
30008	EFEMP2	HP:0007800	Increased axial length of the globe	-	OMIM:154700
30008	EFEMP2	HP:0012385	Camptodactyly	86/110	OMIM:121050
30008	EFEMP2	HP:0012385	Camptodactyly	19/53	OMIM:154700
30008	EFEMP2	HP:0012385	Camptodactyly	24/37	OMIM:182212
30008	EFEMP2	HP:0000387	Absent earlobe	-	OMIM:130050
30008	EFEMP2	HP:0012368	Flat face	1/3	OMIM:614437
30008	EFEMP2	HP:0000377	Abnormal pinna morphology	1/1	OMIM:614437
30008	EFEMP2	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
30008	EFEMP2	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
30008	EFEMP2	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:90349
30008	EFEMP2	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
30008	EFEMP2	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
30008	EFEMP2	HP:0005180	Tricuspid regurgitation	1/1	OMIM:614437
30008	EFEMP2	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
30008	EFEMP2	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
30008	EFEMP2	HP:0006480	Premature loss of teeth	-	OMIM:130050
30008	EFEMP2	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
30008	EFEMP2	HP:0006487	Bowing of the long bones	1/1	OMIM:614437
30008	EFEMP2	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
30008	EFEMP2	HP:0011004	Abnormal systemic arterial morphology	HP:0040282	ORPHA:90349
30008	EFEMP2	HP:0000369	Low-set ears	-	OMIM:614437
30008	EFEMP2	HP:0000369	Low-set ears	32/37	OMIM:182212
30008	EFEMP2	HP:0000343	Long philtrum	-	OMIM:208050
30008	EFEMP2	HP:0012330	Pyelonephritis	HP:0040283	ORPHA:90349
30008	EFEMP2	HP:0002999	Patellar dislocation	2/20	OMIM:121050
30008	EFEMP2	HP:0000347	Micrognathia	-	OMIM:154700
30008	EFEMP2	HP:0000347	Micrognathia	26/94	OMIM:121050
30008	EFEMP2	HP:0000347	Micrognathia	5/14	OMIM:208050
30008	EFEMP2	HP:0000347	Micrognathia	1/1	OMIM:614437
30008	EFEMP2	HP:0000347	Micrognathia	33/37	OMIM:182212
30008	EFEMP2	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
30008	EFEMP2	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
30008	EFEMP2	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
30008	EFEMP2	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
30008	EFEMP2	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0000316	Hypertelorism	6/16	OMIM:208050
30008	EFEMP2	HP:0000316	Hypertelorism	12/13	OMIM:614437
30008	EFEMP2	HP:0000316	Hypertelorism	28/37	OMIM:182212
30008	EFEMP2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
30008	EFEMP2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0001662	Bradycardia	1/1	OMIM:614437
30008	EFEMP2	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
30008	EFEMP2	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
30008	EFEMP2	HP:0001659	Aortic regurgitation	-	OMIM:208050
30008	EFEMP2	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
30008	EFEMP2	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
30008	EFEMP2	HP:0001653	Mitral regurgitation	-	OMIM:121050
30008	EFEMP2	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
30008	EFEMP2	HP:0001629	Ventricular septal defect	-	OMIM:121050
30008	EFEMP2	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
30008	EFEMP2	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:90349
30008	EFEMP2	HP:0001635	Congestive heart failure	-	OMIM:154700
30008	EFEMP2	HP:0001631	Atrial septal defect	-	OMIM:121050
30008	EFEMP2	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
30008	EFEMP2	HP:0001634	Mitral valve prolapse	-	OMIM:130050
30008	EFEMP2	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
30008	EFEMP2	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
30008	EFEMP2	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
30008	EFEMP2	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
30008	EFEMP2	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
30008	EFEMP2	HP:0006698	Dilatation of the ventricular cavity	HP:0040283	ORPHA:90349
30008	EFEMP2	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
30008	EFEMP2	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
30008	EFEMP2	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
30008	EFEMP2	HP:0000400	Macrotia	7/15	OMIM:208050
30008	EFEMP2	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
30008	EFEMP2	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
30008	EFEMP2	HP:0005280	Depressed nasal bridge	HP:0040283	OMIM:614437
30008	EFEMP2	HP:0000483	Astigmatism	3/53	OMIM:154700
30008	EFEMP2	HP:0000483	Astigmatism	5/15	OMIM:208050
30008	EFEMP2	HP:0000486	Strabismus	110/573	OMIM:154700
30008	EFEMP2	HP:0000486	Strabismus	17/37	OMIM:182212
30008	EFEMP2	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
30008	EFEMP2	HP:0000494	Downslanted palpebral fissures	-	OMIM:614437
30008	EFEMP2	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
30008	EFEMP2	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
30008	EFEMP2	HP:0000490	Deeply set eye	25/63	OMIM:154700
30008	EFEMP2	HP:0000463	Anteverted nares	9/37	OMIM:182212
30008	EFEMP2	HP:0001786	Narrow foot	33/53	OMIM:154700
30008	EFEMP2	HP:0000470	Short neck	-	OMIM:121050
30008	EFEMP2	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0001763	Pes planus	27/53	OMIM:154700
30008	EFEMP2	HP:0001763	Pes planus	-	OMIM:182212
30008	EFEMP2	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
30008	EFEMP2	HP:0001765	Hammertoe	-	OMIM:154700
30008	EFEMP2	HP:0000444	Convex nasal ridge	1/1	OMIM:614437
30008	EFEMP2	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
30008	EFEMP2	HP:0000418	Narrow nasal ridge	-	OMIM:130050
30008	EFEMP2	HP:0000414	Bulbous nose	-	OMIM:614437
30008	EFEMP2	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
30008	EFEMP2	HP:0001762	Talipes equinovarus	-	OMIM:130050
30008	EFEMP2	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
30008	EFEMP2	HP:0001761	Pes cavus	49/146	OMIM:154700
30008	EFEMP2	HP:0000518	Cataract	118/199	OMIM:154700
30008	EFEMP2	HP:0001840	Metatarsus adductus	-	OMIM:121050
30008	EFEMP2	HP:0001840	Metatarsus adductus	-	OMIM:182212
30008	EFEMP2	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
30008	EFEMP2	HP:0001842	Foot acroosteolysis	-	OMIM:130050
30008	EFEMP2	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
30008	EFEMP2	HP:0000520	Proptosis	-	OMIM:614437
30008	EFEMP2	HP:0000520	Proptosis	29/37	OMIM:182212
30008	EFEMP2	HP:0000506	Telecanthus	-	OMIM:182212
30008	EFEMP2	HP:0000508	Ptosis	16/37	OMIM:182212
30008	EFEMP2	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
30008	EFEMP2	HP:0000501	Glaucoma	29/625	OMIM:154700
30008	EFEMP2	HP:0000581	Blepharophimosis	-	OMIM:208050
30008	EFEMP2	HP:0000577	Exotropia	72/626	OMIM:154700
30008	EFEMP2	HP:0000586	Shallow orbits	13/37	OMIM:182212
30008	EFEMP2	HP:0000563	Keratoconus	-	OMIM:130050
30008	EFEMP2	HP:0000563	Keratoconus	3/14	OMIM:208050
30008	EFEMP2	HP:0011220	Prominent forehead	-	OMIM:614437
30008	EFEMP2	HP:0011220	Prominent forehead	17/37	OMIM:182212
30008	EFEMP2	HP:0000565	Esotropia	12/573	OMIM:154700
30008	EFEMP2	HP:0000541	Retinal detachment	-	OMIM:154700
30008	EFEMP2	HP:0001883	Talipes	13/53	OMIM:154700
30008	EFEMP2	HP:0000545	Myopia	-	OMIM:121050
30008	EFEMP2	HP:0000545	Myopia	6/15	OMIM:208050
30008	EFEMP2	HP:0000545	Myopia	93/251	OMIM:154700
30008	EFEMP2	HP:0000545	Myopia	9/37	OMIM:182212
30009	TBX21	HP:0012042	Aspirin-induced asthma	-	OMIM:208550
30009	TBX21	HP:0000007	Autosomal recessive inheritance	-	OMIM:619630
30009	TBX21	HP:0000007	Autosomal recessive inheritance	-	OMIM:208550
30009	TBX21	HP:0002099	Asthma	1/1	OMIM:619630
30009	TBX21	HP:0002099	Asthma	-	OMIM:208550
30009	TBX21	HP:0100582	Nasal polyposis	-	OMIM:208550
30009	TBX21	HP:0003593	Infantile onset	1/1	OMIM:619630
30009	TBX21	HP:0020087	BCGosis	1/1	OMIM:619630
30009	TBX21	HP:4000007	Bronchoconstriction	-	OMIM:208550
30009	TBX21	HP:0001880	Increased total eosinophil count	1/1	OMIM:619630
30011	SH3KBP1	HP:0001419	X-linked recessive inheritance	-	OMIM:300310
30011	SH3KBP1	HP:0002718	Recurrent bacterial infections	2/2	OMIM:300310
30011	SH3KBP1	HP:0003593	Infantile onset	2/2	OMIM:300310
30011	SH3KBP1	HP:0002205	Recurrent respiratory infections	2/2	OMIM:300310
30011	SH3KBP1	HP:0008348	Decreased circulating IgG2 concentration	2/2	OMIM:300310
30011	SH3KBP1	HP:0007018	Attention deficit hyperactivity disorder	2/2	OMIM:300310
30011	SH3KBP1	HP:0032138	Decreased circulating IgG4 concentration	2/2	OMIM:300310
30011	SH3KBP1	HP:0002850	Decreased circulating total IgM	2/2	OMIM:300310
30011	SH3KBP1	HP:0001513	Obesity	2/2	OMIM:300310
30011	SH3KBP1	HP:0000403	Recurrent otitis media	2/2	OMIM:300310
30011	SH3KBP1	HP:0011108	Recurrent sinusitis	2/2	OMIM:300310
30061	SLC40A1	HP:0001397	Hepatic steatosis	3/11	OMIM:606069
30061	SLC40A1	HP:0001394	Cirrhosis	1/11	OMIM:606069
30061	SLC40A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:606069
30061	SLC40A1	HP:0002758	Osteoarthritis	2/20	OMIM:606069
30061	SLC40A1	HP:0040270	Impaired glucose tolerance	-	OMIM:606069
30061	SLC40A1	HP:0002240	Hepatomegaly	5/20	OMIM:606069
30061	SLC40A1	HP:0001952	Glucose intolerance	-	OMIM:606069
30061	SLC40A1	HP:0001903	Anemia	-	OMIM:606069
30061	SLC40A1	HP:0000802	Impotence	-	OMIM:606069
30061	SLC40A1	HP:0000819	Diabetes mellitus	1/20	OMIM:606069
30061	SLC40A1	HP:0003281	Increased circulating ferritin concentration	6/20	OMIM:606069
30061	SLC40A1	HP:0000953	Hyperpigmentation of the skin	2/20	OMIM:606069
30061	SLC40A1	HP:0011675	Arrhythmia	1/20	OMIM:606069
30061	SLC40A1	HP:0002829	Arthralgia	-	OMIM:606069
30061	SLC40A1	HP:0012378	Fatigue	2/20	OMIM:606069
30061	SLC40A1	HP:0001638	Cardiomyopathy	-	OMIM:606069
30061	SLC40A1	HP:0012463	Elevated transferrin saturation	3/20	OMIM:606069
30061	SLC40A1	HP:0000518	Cataract	-	OMIM:606069
30062	RAX	HP:0000007	Autosomal recessive inheritance	-	OMIM:611038
30062	RAX	HP:0008499	High hypermetropia	HP:0040281	ORPHA:35612
30062	RAX	HP:0009755	Ankyloblepharon	-	OMIM:611038
30062	RAX	HP:0000647	Sclerocornea	-	OMIM:611038
30062	RAX	HP:0000610	Abnormal choroid morphology	HP:0040281	ORPHA:35612
30062	RAX	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:35612
30062	RAX	HP:0000486	Strabismus	HP:0040281	ORPHA:35612
30062	RAX	HP:0000528	Anophthalmia	-	OMIM:611038
30062	RAX	HP:0000501	Glaucoma	HP:0040281	ORPHA:35612
30062	RAX	HP:0000568	Microphthalmia	HP:0040281	ORPHA:35612
30062	RAX	HP:0000568	Microphthalmia	-	OMIM:611038
30813	VSX1	HP:0008625	Severe sensorineural hearing impairment	1/3	OMIM:614195
30813	VSX1	HP:0009918	Ectopia pupillae	HP:0040284	ORPHA:98973
30813	VSX1	HP:0007291	Posterior fossa cyst	1/3	OMIM:614195
30813	VSX1	HP:0025358	Uveal ectropion	HP:0040283	ORPHA:98973
30813	VSX1	HP:0012040	Corneal stromal edema	HP:0040283	ORPHA:98973
30813	VSX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614195
30813	VSX1	HP:0000006	Autosomal dominant inheritance	-	OMIM:148300
30813	VSX1	HP:0007676	Hypoplasia of the iris	1/3	OMIM:614195
30813	VSX1	HP:0007663	Reduced visual acuity	2/3	OMIM:614195
30813	VSX1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:98973
30813	VSX1	HP:0011818	Nasofrontal encephalocele	1/3	OMIM:614195
30813	VSX1	HP:0002119	Ventriculomegaly	1/3	OMIM:614195
30813	VSX1	HP:0003577	Congenital onset	1/1	OMIM:614195
30813	VSX1	HP:0002321	Vertigo	1/3	OMIM:614195
30813	VSX1	HP:0002315	Headache	1/3	OMIM:614195
30813	VSX1	HP:0200026	Ocular pain	HP:0040284	ORPHA:98973
30813	VSX1	HP:0200065	Chorioretinal degeneration	HP:0040284	ORPHA:98973
30813	VSX1	HP:0032122	Very low visual acuity	HP:0040283	ORPHA:98973
30813	VSX1	HP:0100692	Increased corneal curvature	HP:0040283	ORPHA:98973
30813	VSX1	HP:0000632	Lacrimation abnormality	HP:0040284	ORPHA:98973
30813	VSX1	HP:0000646	Amblyopia	HP:0040283	ORPHA:98973
30813	VSX1	HP:0000613	Photophobia	HP:0040284	ORPHA:98973
30813	VSX1	HP:0000622	Blurred vision	HP:0040284	ORPHA:98973
30813	VSX1	HP:0011491	Reduced number of corneal endothelial cells	HP:0040281	ORPHA:98973
30813	VSX1	HP:0011490	Abnormal Descemet membrane morphology	HP:0040281	ORPHA:98973
30813	VSX1	HP:0011483	Anterior synechiae of the anterior chamber	3/3	OMIM:614195
30813	VSX1	HP:0011483	Anterior synechiae of the anterior chamber	HP:0040283	ORPHA:98973
30813	VSX1	HP:0011462	Young adult onset	-	OMIM:148300
30813	VSX1	HP:0007700	Ocular anterior segment dysgenesis	-	OMIM:614195
30813	VSX1	HP:0000238	Hydrocephalus	1/3	OMIM:614195
30813	VSX1	HP:0000377	Abnormal pinna morphology	3/3	OMIM:614195
30813	VSX1	HP:0000316	Hypertelorism	2/3	OMIM:614195
30813	VSX1	HP:0007957	Corneal opacity	HP:0040284	ORPHA:98973
30813	VSX1	HP:0007906	Ocular hypertension	1/3	OMIM:614195
30813	VSX1	HP:0007906	Ocular hypertension	HP:0040284	ORPHA:98973
30813	VSX1	HP:0000483	Astigmatism	-	OMIM:148300
30813	VSX1	HP:0000483	Astigmatism	HP:0040283	ORPHA:98973
30813	VSX1	HP:0012506	Small pituitary gland	1/3	OMIM:614195
30813	VSX1	HP:0000512	Abnormal electroretinogram	-	OMIM:614195
30813	VSX1	HP:0000501	Glaucoma	HP:0040284	ORPHA:98973
30813	VSX1	HP:0000585	Band keratopathy	1/3	OMIM:614195
30813	VSX1	HP:0000563	Keratoconus	-	OMIM:148300
30813	VSX1	HP:0000565	Esotropia	HP:0040284	ORPHA:98973
30813	VSX1	HP:0000543	Optic disc pallor	1/3	OMIM:614195
30817	ADGRE2	HP:0000006	Autosomal dominant inheritance	-	OMIM:125630
30817	ADGRE2	HP:0031284	Flushing	9/9	OMIM:125630
30817	ADGRE2	HP:0011971	Dermatographic urticaria	0/9	OMIM:125630
30817	ADGRE2	HP:0001041	Facial erythema	9/9	OMIM:125630
30817	ADGRE2	HP:0001025	Urticaria	9/9	OMIM:125630
49855	SCAPER	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
49855	SCAPER	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
49855	SCAPER	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
49855	SCAPER	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
49855	SCAPER	HP:0001250	Seizure	HP:0040283	ORPHA:110
49855	SCAPER	HP:0001251	Ataxia	HP:0040283	ORPHA:110
49855	SCAPER	HP:0001249	Intellectual disability	4/4	OMIM:618195
49855	SCAPER	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
49855	SCAPER	HP:0001257	Spasticity	HP:0040283	ORPHA:110
49855	SCAPER	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
49855	SCAPER	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
49855	SCAPER	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
49855	SCAPER	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
49855	SCAPER	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
49855	SCAPER	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
49855	SCAPER	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
49855	SCAPER	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000007	Autosomal recessive inheritance	-	OMIM:618195
49855	SCAPER	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
49855	SCAPER	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
49855	SCAPER	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
49855	SCAPER	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
49855	SCAPER	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
49855	SCAPER	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
49855	SCAPER	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
49855	SCAPER	HP:0007663	Reduced visual acuity	4/4	OMIM:618195
49855	SCAPER	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
49855	SCAPER	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
49855	SCAPER	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
49855	SCAPER	HP:0500087	Peripapillary atrophy	-	OMIM:618195
49855	SCAPER	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
49855	SCAPER	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
49855	SCAPER	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
49855	SCAPER	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
49855	SCAPER	HP:0002099	Asthma	HP:0040283	ORPHA:110
49855	SCAPER	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
49855	SCAPER	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
49855	SCAPER	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
49855	SCAPER	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
49855	SCAPER	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
49855	SCAPER	HP:0007018	Attention deficit hyperactivity disorder	3/4	OMIM:618195
49855	SCAPER	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
49855	SCAPER	HP:0003621	Juvenile onset	8/19	OMIM:180100
49855	SCAPER	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
49855	SCAPER	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
49855	SCAPER	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
49855	SCAPER	HP:0000618	Blindness	HP:0040281	ORPHA:791
49855	SCAPER	HP:0000618	Blindness	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000613	Photophobia	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000613	Photophobia	HP:0040281	ORPHA:791
49855	SCAPER	HP:0000608	Macular degeneration	-	OMIM:618195
49855	SCAPER	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
49855	SCAPER	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
49855	SCAPER	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
49855	SCAPER	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000691	Microdontia	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
49855	SCAPER	HP:0000662	Nyctalopia	4/4	OMIM:618195
49855	SCAPER	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000662	Nyctalopia	26/28	OMIM:180100
49855	SCAPER	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
49855	SCAPER	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
49855	SCAPER	HP:0004322	Short stature	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000739	Anxiety	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000736	Short attention span	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000716	Depression	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000717	Autism	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
49855	SCAPER	HP:0011463	Childhood onset	3/19	OMIM:180100
49855	SCAPER	HP:0011463	Childhood onset	4/4	OMIM:618195
49855	SCAPER	HP:0011462	Young adult onset	8/19	OMIM:180100
49855	SCAPER	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
49855	SCAPER	HP:0000789	Infertility	HP:0040283	ORPHA:110
49855	SCAPER	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
49855	SCAPER	HP:0030786	Photopsia	HP:0040283	ORPHA:791
49855	SCAPER	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
49855	SCAPER	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
49855	SCAPER	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
49855	SCAPER	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000822	Hypertension	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
49855	SCAPER	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
49855	SCAPER	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
49855	SCAPER	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
49855	SCAPER	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
49855	SCAPER	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
49855	SCAPER	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
49855	SCAPER	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
49855	SCAPER	HP:0007787	Posterior subcapsular cataract	1/4	OMIM:618195
49855	SCAPER	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
49855	SCAPER	HP:0007737	Bone spicule pigmentation of the retina	4/4	OMIM:618195
49855	SCAPER	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
49855	SCAPER	HP:0000218	High palate	HP:0040282	ORPHA:110
49855	SCAPER	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
49855	SCAPER	HP:0001513	Obesity	HP:0040281	ORPHA:110
49855	SCAPER	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
49855	SCAPER	HP:0007843	Attenuation of retinal blood vessels	4/4	OMIM:618195
49855	SCAPER	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
49855	SCAPER	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
49855	SCAPER	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
49855	SCAPER	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000388	Otitis media	HP:0040283	ORPHA:110
49855	SCAPER	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
49855	SCAPER	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
49855	SCAPER	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
49855	SCAPER	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
49855	SCAPER	HP:0007928	Abnormal flash visual evoked potentials	1/2	OMIM:618195
49855	SCAPER	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
49855	SCAPER	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
49855	SCAPER	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
49855	SCAPER	HP:0000400	Macrotia	HP:0040283	ORPHA:110
49855	SCAPER	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000486	Strabismus	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000470	Short neck	HP:0040283	ORPHA:110
49855	SCAPER	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
49855	SCAPER	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000518	Cataract	HP:0040283	ORPHA:110
49855	SCAPER	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
49855	SCAPER	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
49855	SCAPER	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
49855	SCAPER	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
49855	SCAPER	HP:0000575	Scotoma	5/18	OMIM:180100
49855	SCAPER	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
49855	SCAPER	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
49855	SCAPER	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
49855	SCAPER	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
49855	SCAPER	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
49855	SCAPER	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
49855	SCAPER	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
49855	SCAPER	HP:0000543	Optic disc pallor	4/4	OMIM:618195
49855	SCAPER	HP:0000543	Optic disc pallor	1/1	OMIM:180100
49855	SCAPER	HP:0000545	Myopia	-	OMIM:180100
50484	RRM2B	HP:0001155	Abnormality of the hand	HP:0040282	ORPHA:298
50484	RRM2B	HP:0002490	Increased CSF lactate	2/7	OMIM:612075
50484	RRM2B	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:298
50484	RRM2B	HP:0003774	Stage 5 chronic kidney disease	3/6	OMIM:268315
50484	RRM2B	HP:0007302	Bipolar affective disorder	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0008619	Bilateral sensorineural hearing impairment	1/6	OMIM:268315
50484	RRM2B	HP:0025149	Atrophic muscularis propria	HP:0040281	ORPHA:298
50484	RRM2B	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:329336
50484	RRM2B	HP:0003750	Increased muscle fatiguability	-	OMIM:613077
50484	RRM2B	HP:0003731	Quadriceps muscle weakness	HP:0040282	ORPHA:254892
50484	RRM2B	HP:0003722	Neck flexor weakness	HP:0040283	ORPHA:329336
50484	RRM2B	HP:0003738	Exercise-induced myalgia	HP:0040282	ORPHA:329336
50484	RRM2B	HP:0002406	Limb dysmetria	HP:0040283	ORPHA:329336
50484	RRM2B	HP:0003737	Mitochondrial myopathy	HP:0040282	ORPHA:254892
50484	RRM2B	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0001290	Generalized hypotonia	-	OMIM:612075
50484	RRM2B	HP:0001276	Hypertonia	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0001288	Gait disturbance	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0001254	Lethargy	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0001250	Seizure	2/7	OMIM:612075
50484	RRM2B	HP:0001250	Seizure	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0001252	Hypotonia	-	OMIM:612075
50484	RRM2B	HP:0001252	Hypotonia	HP:0040282	ORPHA:480
50484	RRM2B	HP:0001251	Ataxia	2/7	OMIM:613077
50484	RRM2B	HP:0001251	Ataxia	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0001251	Ataxia	HP:0040282	ORPHA:480
50484	RRM2B	HP:0002579	Gastrointestinal dysmotility	HP:0040281	ORPHA:298
50484	RRM2B	HP:0001249	Intellectual disability	HP:0040283	ORPHA:298
50484	RRM2B	HP:0001249	Intellectual disability	-	OMIM:612075
50484	RRM2B	HP:0002578	Gastroparesis	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0001265	Hyporeflexia	HP:0040283	OMIM:613077
50484	RRM2B	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0001260	Dysarthria	-	OMIM:613077
50484	RRM2B	HP:0001260	Dysarthria	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0001260	Dysarthria	HP:0040282	ORPHA:329336
50484	RRM2B	HP:0002549	Deficit in phonologic short-term memory	HP:0040283	ORPHA:329336
50484	RRM2B	HP:0002522	Areflexia of lower limbs	HP:0040282	ORPHA:329336
50484	RRM2B	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:329336
50484	RRM2B	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:298
50484	RRM2B	HP:0001392	Abnormality of the liver	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0001394	Cirrhosis	HP:0040283	ORPHA:298
50484	RRM2B	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:298
50484	RRM2B	HP:0001349	Facial diplegia	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0000017	Nocturia	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0001324	Muscle weakness	HP:0040283	ORPHA:480
50484	RRM2B	HP:0000007	Autosomal recessive inheritance	-	OMIM:268315
50484	RRM2B	HP:0000007	Autosomal recessive inheritance	-	OMIM:612075
50484	RRM2B	HP:0001337	Tremor	HP:0040283	ORPHA:480
50484	RRM2B	HP:0001337	Tremor	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:613077
50484	RRM2B	HP:0002650	Scoliosis	HP:0040283	ORPHA:329336
50484	RRM2B	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:480
50484	RRM2B	HP:0025461	Abnormal cell morphology	HP:0040283	ORPHA:298
50484	RRM2B	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:329336
50484	RRM2B	HP:0008936	Axial hypotonia	7/7	OMIM:612075
50484	RRM2B	HP:0012103	Abnormality of the mitochondrion	HP:0040282	ORPHA:298
50484	RRM2B	HP:0012103	Abnormality of the mitochondrion	HP:0040282	ORPHA:254892
50484	RRM2B	HP:0000114	Proximal tubulopathy	7/7	OMIM:612075
50484	RRM2B	HP:0002757	Recurrent fractures	1/6	OMIM:268315
50484	RRM2B	HP:0001403	Macrovesicular hepatic steatosis	HP:0040283	ORPHA:298
50484	RRM2B	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:480
50484	RRM2B	HP:0002748	Rickets	4/6	OMIM:268315
50484	RRM2B	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:329336
50484	RRM2B	HP:0003355	Aminoaciduria	-	OMIM:612075
50484	RRM2B	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:298
50484	RRM2B	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0002018	Nausea	HP:0040281	ORPHA:298
50484	RRM2B	HP:0002019	Constipation	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0003348	Hyperalaninemia	HP:0040282	ORPHA:298
50484	RRM2B	HP:0002027	Abdominal pain	HP:0040281	ORPHA:298
50484	RRM2B	HP:0003326	Myalgia	HP:0040282	ORPHA:329336
50484	RRM2B	HP:0003326	Myalgia	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0002014	Diarrhea	HP:0040282	ORPHA:298
50484	RRM2B	HP:0002014	Diarrhea	1/7	OMIM:612075
50484	RRM2B	HP:0002015	Dysphagia	HP:0040281	ORPHA:298
50484	RRM2B	HP:0002015	Dysphagia	4/7	OMIM:613077
50484	RRM2B	HP:0002015	Dysphagia	HP:0040283	ORPHA:480
50484	RRM2B	HP:0002015	Dysphagia	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0002015	Dysphagia	HP:0040282	ORPHA:329336
50484	RRM2B	HP:0002013	Vomiting	HP:0040281	ORPHA:298
50484	RRM2B	HP:0002013	Vomiting	1/7	OMIM:612075
50484	RRM2B	HP:0004622	Progressive intervertebral space narrowing	HP:0040282	ORPHA:480
50484	RRM2B	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:480
50484	RRM2B	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0002098	Respiratory distress	1/7	OMIM:612075
50484	RRM2B	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0002067	Bradykinesia	HP:0040282	ORPHA:254892
50484	RRM2B	HP:0002066	Gait ataxia	HP:0040283	OMIM:613077
50484	RRM2B	HP:0002066	Gait ataxia	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0002066	Gait ataxia	-	OMIM:612075
50484	RRM2B	HP:0003394	Muscle spasm	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0002063	Rigidity	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0002076	Migraine	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0002076	Migraine	HP:0040283	ORPHA:329336
50484	RRM2B	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	HP:0040282	ORPHA:298
50484	RRM2B	HP:0003388	Easy fatigability	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0003388	Easy fatigability	HP:0040282	ORPHA:298
50484	RRM2B	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:298
50484	RRM2B	HP:0002141	Gait imbalance	HP:0040283	ORPHA:329336
50484	RRM2B	HP:0002151	Increased circulating lactate concentration	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0003448	Decreased sensory nerve conduction velocity	HP:0040282	ORPHA:298
50484	RRM2B	HP:0002133	Status epilepticus	1/7	OMIM:612075
50484	RRM2B	HP:0003457	EMG abnormality	HP:0040282	ORPHA:480
50484	RRM2B	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:254892
50484	RRM2B	HP:0003431	Decreased motor nerve conduction velocity	HP:0040282	ORPHA:298
50484	RRM2B	HP:0003438	Absent Achilles reflex	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0003401	Paresthesia	HP:0040282	ORPHA:298
50484	RRM2B	HP:0003596	Middle age onset	4/7	OMIM:613077
50484	RRM2B	HP:0003577	Congenital onset	2/7	OMIM:612075
50484	RRM2B	HP:0100704	Cerebral visual impairment	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:329336
50484	RRM2B	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:254892
50484	RRM2B	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:254892
50484	RRM2B	HP:0003546	Exercise intolerance	HP:0040281	ORPHA:329336
50484	RRM2B	HP:0003546	Exercise intolerance	-	OMIM:613077
50484	RRM2B	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:480
50484	RRM2B	HP:0007042	Focal white matter lesions	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0008347	Decreased activity of mitochondrial complex IV	1/7	OMIM:612075
50484	RRM2B	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:329336
50484	RRM2B	HP:0011968	Feeding difficulties	-	OMIM:612075
50484	RRM2B	HP:0010628	Facial palsy	HP:0040282	ORPHA:254892
50484	RRM2B	HP:0002396	Cogwheel rigidity	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0002361	Psychomotor deterioration	HP:0040283	ORPHA:329336
50484	RRM2B	HP:0003690	Limb muscle weakness	HP:0040282	ORPHA:254892
50484	RRM2B	HP:0003690	Limb muscle weakness	HP:0040281	ORPHA:329336
50484	RRM2B	HP:0002359	Frequent falls	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0003688	Cytochrome C oxidase-negative muscle fibers	HP:0040282	ORPHA:254892
50484	RRM2B	HP:0003689	Multiple mitochondrial DNA deletions	-	OMIM:613077
50484	RRM2B	HP:0002375	Hypokinesia	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0002344	Progressive neurologic deterioration	-	OMIM:612075
50484	RRM2B	HP:0003676	Progressive	-	OMIM:612075
50484	RRM2B	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:298
50484	RRM2B	HP:0002322	Resting tremor	HP:0040282	ORPHA:254892
50484	RRM2B	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:298
50484	RRM2B	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:329336
50484	RRM2B	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:298
50484	RRM2B	HP:0007108	Demyelinating peripheral neuropathy	HP:0040282	ORPHA:298
50484	RRM2B	HP:0003623	Neonatal onset	5/7	OMIM:612075
50484	RRM2B	HP:0004900	Severe lactic acidosis	1/7	OMIM:612075
50484	RRM2B	HP:0012622	Chronic kidney disease	HP:0040283	ORPHA:480
50484	RRM2B	HP:0001962	Palpitations	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0000648	Optic atrophy	1/6	OMIM:268315
50484	RRM2B	HP:0001947	Renal tubular acidosis	HP:0040283	ORPHA:480
50484	RRM2B	HP:0001946	Ketosis	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0001952	Glucose intolerance	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:254892
50484	RRM2B	HP:0001903	Anemia	HP:0040283	ORPHA:298
50484	RRM2B	HP:0012664	Reduced left ventricular ejection fraction	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:298
50484	RRM2B	HP:0001994	Renal Fanconi syndrome	6/6	OMIM:268315
50484	RRM2B	HP:0004322	Short stature	1/6	OMIM:268315
50484	RRM2B	HP:0004322	Short stature	HP:0040283	ORPHA:480
50484	RRM2B	HP:0004326	Cachexia	HP:0040281	ORPHA:298
50484	RRM2B	HP:0004326	Cachexia	-	OMIM:612075
50484	RRM2B	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0003076	Glycosuria	1/6	OMIM:268315
50484	RRM2B	HP:0004396	Poor appetite	HP:0040281	ORPHA:298
50484	RRM2B	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:480
50484	RRM2B	HP:0000739	Anxiety	HP:0040283	OMIM:613077
50484	RRM2B	HP:0000739	Anxiety	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0000750	Delayed speech and language development	1/6	OMIM:268315
50484	RRM2B	HP:0000716	Depression	-	OMIM:613077
50484	RRM2B	HP:0000716	Depression	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0000726	Dementia	HP:0040284	ORPHA:298
50484	RRM2B	HP:0000726	Dementia	HP:0040283	ORPHA:480
50484	RRM2B	HP:0011463	Childhood onset	6/6	OMIM:268315
50484	RRM2B	HP:0011462	Young adult onset	3/7	OMIM:613077
50484	RRM2B	HP:0003198	Myopathy	-	OMIM:613077
50484	RRM2B	HP:0003198	Myopathy	HP:0040282	ORPHA:254892
50484	RRM2B	HP:0003199	Decreased muscle mass	HP:0040283	ORPHA:298
50484	RRM2B	HP:0003133	Abnormality of the spinocerebellar tracts	HP:0040283	ORPHA:329336
50484	RRM2B	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:298
50484	RRM2B	HP:0003128	Lactic acidosis	7/7	OMIM:612075
50484	RRM2B	HP:0012850	Small intestinal dysmotility	HP:0040281	ORPHA:298
50484	RRM2B	HP:0000853	Goiter	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0000836	Hyperthyroidism	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:480
50484	RRM2B	HP:0000819	Diabetes mellitus	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:480
50484	RRM2B	HP:0000815	Hypergonadotropic hypogonadism	HP:0040283	ORPHA:298
50484	RRM2B	HP:0000829	Hypoparathyroidism	HP:0040283	ORPHA:480
50484	RRM2B	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0000823	Delayed puberty	HP:0040283	ORPHA:480
50484	RRM2B	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:480
50484	RRM2B	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:329336
50484	RRM2B	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:254892
50484	RRM2B	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:298
50484	RRM2B	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:480
50484	RRM2B	HP:0003270	Abdominal distention	HP:0040281	ORPHA:298
50484	RRM2B	HP:0000969	Edema	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0000939	Osteoporosis	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0008049	Abnormality of the extraocular muscles	HP:0040282	ORPHA:298
50484	RRM2B	HP:0011675	Arrhythmia	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0007737	Bone spicule pigmentation of the retina	1/6	OMIM:268315
50484	RRM2B	HP:0000218	High palate	HP:0040282	ORPHA:329336
50484	RRM2B	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0001508	Failure to thrive	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0001508	Failure to thrive	-	OMIM:612075
50484	RRM2B	HP:0012378	Fatigue	5/7	OMIM:613077
50484	RRM2B	HP:0012378	Fatigue	HP:0040282	ORPHA:254892
50484	RRM2B	HP:0001618	Dysphonia	1/7	OMIM:613077
50484	RRM2B	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:329336
50484	RRM2B	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:298
50484	RRM2B	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040284	ORPHA:254892
50484	RRM2B	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:298
50484	RRM2B	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:480
50484	RRM2B	HP:0005150	Abnormal atrioventricular conduction	HP:0040283	ORPHA:329336
50484	RRM2B	HP:0000365	Hearing impairment	HP:0040283	OMIM:613077
50484	RRM2B	HP:0000365	Hearing impairment	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0000365	Hearing impairment	HP:0040282	ORPHA:329336
50484	RRM2B	HP:0000365	Hearing impairment	HP:0040282	ORPHA:480
50484	RRM2B	HP:0000365	Hearing impairment	4/6	OMIM:268315
50484	RRM2B	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040282	ORPHA:298
50484	RRM2B	HP:0000338	Hypomimic face	HP:0040282	ORPHA:254892
50484	RRM2B	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:329336
50484	RRM2B	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:480
50484	RRM2B	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:329336
50484	RRM2B	HP:0007994	Peripheral visual field loss	1/6	OMIM:268315
50484	RRM2B	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:298
50484	RRM2B	HP:0000407	Sensorineural hearing impairment	1/6	OMIM:268315
50484	RRM2B	HP:0001709	Third degree atrioventricular block	HP:0040281	ORPHA:480
50484	RRM2B	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:254892
50484	RRM2B	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:480
50484	RRM2B	HP:0000518	Cataract	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0000518	Cataract	1/6	OMIM:268315
50484	RRM2B	HP:0000510	Rod-cone dystrophy	6/6	OMIM:268315
50484	RRM2B	HP:0001824	Weight loss	HP:0040282	ORPHA:298
50484	RRM2B	HP:0001824	Weight loss	-	OMIM:612075
50484	RRM2B	HP:0000508	Ptosis	6/7	OMIM:613077
50484	RRM2B	HP:0000508	Ptosis	HP:0040281	ORPHA:254892
50484	RRM2B	HP:0000508	Ptosis	HP:0040282	ORPHA:298
50484	RRM2B	HP:0000508	Ptosis	HP:0040282	ORPHA:480
50484	RRM2B	HP:0000505	Visual impairment	HP:0040283	ORPHA:254892
50484	RRM2B	HP:0000505	Visual impairment	6/6	OMIM:268315
50484	RRM2B	HP:0000501	Glaucoma	1/7	OMIM:613077
50484	RRM2B	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:254892
50484	RRM2B	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:298
50484	RRM2B	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:329336
50484	RRM2B	HP:0000580	Pigmentary retinopathy	HP:0040281	ORPHA:480
50484	RRM2B	HP:0000590	Progressive external ophthalmoplegia	7/7	OMIM:613077
50484	RRM2B	HP:0000590	Progressive external ophthalmoplegia	HP:0040280	ORPHA:329336
50484	RRM2B	HP:0000590	Progressive external ophthalmoplegia	HP:0040281	ORPHA:480
50484	RRM2B	HP:0000565	Esotropia	HP:0040283	ORPHA:329336
50484	RRM2B	HP:0000543	Optic disc pallor	1/6	OMIM:268315
50484	RRM2B	HP:0000544	External ophthalmoplegia	HP:0040281	ORPHA:298
50484	RRM2B	HP:0000544	External ophthalmoplegia	HP:0040281	ORPHA:254892
50484	RRM2B	HP:0000544	External ophthalmoplegia	-	OMIM:612075
50485	SMARCAL1	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0003774	Stage 5 chronic kidney disease	2/2	OMIM:242900
50485	SMARCAL1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
50485	SMARCAL1	HP:0001298	Encephalopathy	HP:0040284	ORPHA:1830
50485	SMARCAL1	HP:0001297	Stroke	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0001297	Stroke	1/2	OMIM:242900
50485	SMARCAL1	HP:0001293	Cranial nerve compression	-	OMIM:131300
50485	SMARCAL1	HP:0001270	Motor delay	-	OMIM:242900
50485	SMARCAL1	HP:0001269	Hemiparesis	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0001250	Seizure	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0001252	Hypotonia	2/7	OMIM:615777
50485	SMARCAL1	HP:0001249	Intellectual disability	0/3	OMIM:242900
50485	SMARCAL1	HP:0001249	Intellectual disability	5/7	OMIM:615777
50485	SMARCAL1	HP:0001260	Dysarthria	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0001263	Global developmental delay	1/1	OMIM:242900
50485	SMARCAL1	HP:0001263	Global developmental delay	-	OMIM:615777
50485	SMARCAL1	HP:0410377	Decreased naive CD8 T cell proportion	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0410373	Abnormal naive CD4-positive T cell proportion	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0008689	Bilateral cryptorchidism	1/1	OMIM:242900
50485	SMARCAL1	HP:0002515	Waddling gait	54/102	OMIM:131300
50485	SMARCAL1	HP:0002515	Waddling gait	-	OMIM:242900
50485	SMARCAL1	HP:0000083	Renal insufficiency	-	OMIM:242900
50485	SMARCAL1	HP:0000097	Focal segmental glomerulosclerosis	HP:0040281	ORPHA:1830
50485	SMARCAL1	HP:0000097	Focal segmental glomerulosclerosis	3/3	OMIM:242900
50485	SMARCAL1	HP:0000093	Proteinuria	HP:0040281	ORPHA:1830
50485	SMARCAL1	HP:0000093	Proteinuria	-	OMIM:242900
50485	SMARCAL1	HP:0001382	Joint hypermobility	-	OMIM:615777
50485	SMARCAL1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
50485	SMARCAL1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
50485	SMARCAL1	HP:0008839	Hypoplastic pelvis	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0008784	Wide capital femoral epiphyses	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
50485	SMARCAL1	HP:0001324	Muscle weakness	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0001324	Muscle weakness	40/96	OMIM:131300
50485	SMARCAL1	HP:0002655	Spondyloepiphyseal dysplasia	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0002655	Spondyloepiphyseal dysplasia	2/2	OMIM:242900
50485	SMARCAL1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
50485	SMARCAL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:242900
50485	SMARCAL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
50485	SMARCAL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
50485	SMARCAL1	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0002637	Cerebral ischemia	3/3	OMIM:242900
50485	SMARCAL1	HP:0002634	Arteriosclerosis	-	OMIM:242900
50485	SMARCAL1	HP:0002650	Scoliosis	12/14	OMIM:131300
50485	SMARCAL1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
50485	SMARCAL1	HP:0002621	Atherosclerosis	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
50485	SMARCAL1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
50485	SMARCAL1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
50485	SMARCAL1	HP:0000175	Cleft palate	2/7	OMIM:615777
50485	SMARCAL1	HP:0006344	Abnormal primary molar morphology	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0000100	Nephrotic syndrome	3/3	OMIM:242900
50485	SMARCAL1	HP:0000112	Nephropathy	HP:0040281	ORPHA:1830
50485	SMARCAL1	HP:0002719	Recurrent infections	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0002719	Recurrent infections	16/27	OMIM:242900
50485	SMARCAL1	HP:0003368	Abnormal femoral head morphology	HP:0040281	ORPHA:1830
50485	SMARCAL1	HP:0003300	Ovoid vertebral bodies	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0003300	Ovoid vertebral bodies	-	OMIM:242900
50485	SMARCAL1	HP:0002094	Dyspnea	1/2	OMIM:242900
50485	SMARCAL1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0002092	Pulmonary arterial hypertension	2/2	OMIM:242900
50485	SMARCAL1	HP:0002076	Migraine	1/2	OMIM:242900
50485	SMARCAL1	HP:0003388	Easy fatigability	36/76	OMIM:131300
50485	SMARCAL1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
50485	SMARCAL1	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0002133	Status epilepticus	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0011840	Abnormality of T cell physiology	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0003577	Congenital onset	4/4	OMIM:242900
50485	SMARCAL1	HP:0002242	Abnormal intestine morphology	HP:0040284	ORPHA:1830
50485	SMARCAL1	HP:0002213	Fine hair	1/1	OMIM:242900
50485	SMARCAL1	HP:0002208	Coarse hair	-	OMIM:242900
50485	SMARCAL1	HP:0010701	Abnormal circulating immunoglobulin concentration	-	OMIM:242900
50485	SMARCAL1	HP:0003510	Severe short stature	7/7	OMIM:615777
50485	SMARCAL1	HP:0003521	Disproportionate short-trunk short stature	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0003521	Disproportionate short-trunk short stature	5/5	OMIM:242900
50485	SMARCAL1	HP:0002381	Aphasia	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0001034	Hypermelanotic macule	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0001034	Hypermelanotic macule	12/12	OMIM:242900
50485	SMARCAL1	HP:0002376	Developmental regression	HP:0040284	ORPHA:1830
50485	SMARCAL1	HP:0002315	Headache	-	OMIM:131300
50485	SMARCAL1	HP:0002315	Headache	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0004976	Knee dislocation	6/7	OMIM:615777
50485	SMARCAL1	HP:0001003	Multiple lentigines	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0002326	Transient ischemic attack	2/2	OMIM:242900
50485	SMARCAL1	HP:0009803	Short phalanx of finger	-	OMIM:615777
50485	SMARCAL1	HP:0009763	Limb pain	63/92	OMIM:131300
50485	SMARCAL1	HP:0002301	Hemiplegia	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0004931	Arteriosclerosis of small cerebral arteries	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0003621	Juvenile onset	-	OMIM:131300
50485	SMARCAL1	HP:0005528	Bone marrow hypocellularity	HP:0040284	ORPHA:1830
50485	SMARCAL1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
50485	SMARCAL1	HP:0005523	Lymphoproliferative disorder	HP:0040284	ORPHA:1830
50485	SMARCAL1	HP:0006813	Focal hemiclonic seizure	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
50485	SMARCAL1	HP:6001056	Out-toeing	-	OMIM:131300
50485	SMARCAL1	HP:0000651	Diplopia	-	OMIM:131300
50485	SMARCAL1	HP:0001945	Fever	1/1	OMIM:242900
50485	SMARCAL1	HP:0001956	Truncal obesity	2/7	OMIM:615777
50485	SMARCAL1	HP:0001903	Anemia	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0001903	Anemia	1/2	OMIM:242900
50485	SMARCAL1	HP:0001903	Anemia	HP:0040283	OMIM:131300
50485	SMARCAL1	HP:0010049	Short metacarpal	-	OMIM:615777
50485	SMARCAL1	HP:0000678	Dental crowding	-	OMIM:615777
50485	SMARCAL1	HP:0000691	Microdontia	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0000691	Microdontia	2/2	OMIM:242900
50485	SMARCAL1	HP:0000670	Carious teeth	-	OMIM:131300
50485	SMARCAL1	HP:0011304	Broad thumb	2/7	OMIM:615777
50485	SMARCAL1	HP:0000668	Hypodontia	-	OMIM:615777
50485	SMARCAL1	HP:0000668	Hypodontia	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0000664	Synophrys	-	OMIM:615777
50485	SMARCAL1	HP:0004322	Short stature	HP:0040281	ORPHA:1830
50485	SMARCAL1	HP:0004313	Decreased circulating immunoglobulin concentration	1/2	OMIM:242900
50485	SMARCAL1	HP:0003077	Hyperlipidemia	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0004396	Poor appetite	-	OMIM:131300
50485	SMARCAL1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
50485	SMARCAL1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
50485	SMARCAL1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
50485	SMARCAL1	HP:0003026	Short long bone	7/7	OMIM:615777
50485	SMARCAL1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
50485	SMARCAL1	HP:0012733	Macule	1/1	OMIM:242900
50485	SMARCAL1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
50485	SMARCAL1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
50485	SMARCAL1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
50485	SMARCAL1	HP:0000750	Delayed speech and language development	-	OMIM:615777
50485	SMARCAL1	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0011461	Fetal onset	7/7	OMIM:615777
50485	SMARCAL1	HP:0000774	Narrow chest	2/7	OMIM:615777
50485	SMARCAL1	HP:0000926	Platyspondyly	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0000926	Platyspondyly	1/7	OMIM:615777
50485	SMARCAL1	HP:0000926	Platyspondyly	-	OMIM:242900
50485	SMARCAL1	HP:0003182	Shallow acetabular fossae	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0003182	Shallow acetabular fossae	-	OMIM:242900
50485	SMARCAL1	HP:0003180	Flat acetabular roof	-	OMIM:615777
50485	SMARCAL1	HP:0004482	Relative macrocephaly	-	OMIM:615777
50485	SMARCAL1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
50485	SMARCAL1	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:242900
50485	SMARCAL1	HP:0000822	Hypertension	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0000822	Hypertension	3/3	OMIM:242900
50485	SMARCAL1	HP:0000823	Delayed puberty	-	OMIM:131300
50485	SMARCAL1	HP:0000894	Short clavicles	-	OMIM:615777
50485	SMARCAL1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
50485	SMARCAL1	HP:0003270	Abdominal distention	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
50485	SMARCAL1	HP:0000938	Osteopenia	-	OMIM:242900
50485	SMARCAL1	HP:0000286	Epicanthus	1/7	OMIM:615777
50485	SMARCAL1	HP:0000280	Coarse facial features	2/7	OMIM:615777
50485	SMARCAL1	HP:0031409	Abnormal lymphocyte physiology	HP:0040281	ORPHA:1830
50485	SMARCAL1	HP:0006453	Lateral displacement of the femoral head	-	OMIM:242900
50485	SMARCAL1	HP:0007759	Opacification of the corneal stroma	-	OMIM:242900
50485	SMARCAL1	HP:0002827	Hip dislocation	3/7	OMIM:615777
50485	SMARCAL1	HP:0000252	Microcephaly	-	OMIM:615777
50485	SMARCAL1	HP:0002857	Genu valgum	-	OMIM:131300
50485	SMARCAL1	HP:0001538	Protuberant abdomen	3/3	OMIM:242900
50485	SMARCAL1	HP:0001533	Slender build	-	OMIM:131300
50485	SMARCAL1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0001518	Small for gestational age	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0001518	Small for gestational age	3/3	OMIM:242900
50485	SMARCAL1	HP:0002843	Abnormal T cell morphology	-	OMIM:242900
50485	SMARCAL1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:1830
50485	SMARCAL1	HP:0001511	Intrauterine growth retardation	1/2	OMIM:242900
50485	SMARCAL1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
50485	SMARCAL1	HP:0001510	Growth delay	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0001510	Growth delay	3/3	OMIM:242900
50485	SMARCAL1	HP:0007807	Optic nerve compression	-	OMIM:131300
50485	SMARCAL1	HP:0012368	Flat face	7/7	OMIM:615777
50485	SMARCAL1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
50485	SMARCAL1	HP:0002938	Lumbar hyperlordosis	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0002938	Lumbar hyperlordosis	3/3	OMIM:242900
50485	SMARCAL1	HP:0002942	Thoracic kyphosis	-	OMIM:242900
50485	SMARCAL1	HP:0002926	Abnormality of thyroid physiology	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	-	OMIM:242900
50485	SMARCAL1	HP:0002907	Microscopic hematuria	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0000365	Hearing impairment	10/67	OMIM:131300
50485	SMARCAL1	HP:0000343	Long philtrum	1/7	OMIM:615777
50485	SMARCAL1	HP:0011001	Increased bone mineral density	-	OMIM:131300
50485	SMARCAL1	HP:0000311	Round face	2/7	OMIM:615777
50485	SMARCAL1	HP:0000325	Triangular face	1/1	OMIM:242900
50485	SMARCAL1	HP:0002960	Autoimmunity	HP:0040284	ORPHA:1830
50485	SMARCAL1	HP:0001620	Abnormally high-pitched voice	-	OMIM:242900
50485	SMARCAL1	HP:0001622	Premature birth	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0002970	Genu varum	-	OMIM:615777
50485	SMARCAL1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0000303	Mandibular prognathia	-	OMIM:131300
50485	SMARCAL1	HP:0007957	Corneal opacity	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0005352	Severe T-cell immunodeficiency	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0001733	Pancreatitis	HP:0040284	ORPHA:1830
50485	SMARCAL1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0005280	Depressed nasal bridge	-	OMIM:242900
50485	SMARCAL1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
50485	SMARCAL1	HP:0000483	Astigmatism	-	OMIM:242900
50485	SMARCAL1	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0000470	Short neck	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0000470	Short neck	1/1	OMIM:242900
50485	SMARCAL1	HP:0000470	Short neck	1/7	OMIM:615777
50485	SMARCAL1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
50485	SMARCAL1	HP:0001763	Pes planus	1/7	OMIM:615777
50485	SMARCAL1	HP:0000414	Bulbous nose	2/2	OMIM:242900
50485	SMARCAL1	HP:0001762	Talipes equinovarus	1/1	OMIM:242900
50485	SMARCAL1	HP:0000431	Wide nasal bridge	2/2	OMIM:242900
50485	SMARCAL1	HP:0001840	Metatarsus adductus	-	OMIM:615777
50485	SMARCAL1	HP:0000520	Proptosis	2/4	OMIM:131300
50485	SMARCAL1	HP:0000520	Proptosis	7/7	OMIM:615777
50485	SMARCAL1	HP:0012593	Nephrotic range proteinuria	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0000592	Blue sclerae	2/7	OMIM:615777
50485	SMARCAL1	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0001888	Decreased total lymphocyte count	2/2	OMIM:242900
50485	SMARCAL1	HP:0012539	Non-Hodgkin lymphoma	HP:0040284	ORPHA:1830
50485	SMARCAL1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
50485	SMARCAL1	HP:0012514	Lower limb pain	4/4	OMIM:131300
50485	SMARCAL1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:1830
50485	SMARCAL1	HP:0001873	Thrombocytopenia	1/2	OMIM:242900
50485	SMARCAL1	HP:0001876	Pancytopenia	8/25	OMIM:242900
50485	SMARCAL1	HP:0000545	Myopia	-	OMIM:242900
50485	SMARCAL1	HP:0001875	Decreased total neutrophil count	HP:0040282	ORPHA:1830
50485	SMARCAL1	HP:0001875	Decreased total neutrophil count	1/2	OMIM:242900
50506	DUOX2	HP:0001254	Lethargy	HP:0040283	ORPHA:226316
50506	DUOX2	HP:0001254	Lethargy	HP:0040283	ORPHA:95716
50506	DUOX2	HP:0001252	Hypotonia	HP:0040284	ORPHA:226316
50506	DUOX2	HP:0001252	Hypotonia	HP:0040283	ORPHA:95716
50506	DUOX2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:95716
50506	DUOX2	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:95716
50506	DUOX2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:95716
50506	DUOX2	HP:0008828	Delayed proximal femoral epiphyseal ossification	HP:0040282	ORPHA:95716
50506	DUOX2	HP:0031169	Postterm pregnancy	HP:0040283	ORPHA:226316
50506	DUOX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:607200
50506	DUOX2	HP:0025484	Increased circulating thyroglobulin concentration	HP:0040282	ORPHA:226316
50506	DUOX2	HP:0025483	Abnormal circulating thyroglobulin concentration	HP:0040283	ORPHA:95716
50506	DUOX2	HP:0025482	Positive perchlorate discharge test	HP:0040283	ORPHA:95716
50506	DUOX2	HP:0000158	Macroglossia	HP:0040283	ORPHA:95716
50506	DUOX2	HP:0000158	Macroglossia	HP:0040283	ORPHA:226316
50506	DUOX2	HP:0031219	Reduced radioactive iodine uptake	HP:0040283	ORPHA:95716
50506	DUOX2	HP:0031220	Increased radioactive iodine uptake	HP:0040283	ORPHA:95716
50506	DUOX2	HP:0031221	Abnormal radioactive iodine uptake test result	HP:0040283	ORPHA:226316
50506	DUOX2	HP:0002019	Constipation	HP:0040283	ORPHA:226316
50506	DUOX2	HP:0002019	Constipation	HP:0040282	ORPHA:95716
50506	DUOX2	HP:0005990	Thyroid hypoplasia	HP:0040284	ORPHA:226316
50506	DUOX2	HP:0002045	Hypothermia	HP:0040284	ORPHA:226316
50506	DUOX2	HP:0002045	Hypothermia	HP:0040283	ORPHA:95716
50506	DUOX2	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:95716
50506	DUOX2	HP:0008263	Thyroid defect in oxidation and organification of iodide	HP:0040282	ORPHA:95716
50506	DUOX2	HP:0008263	Thyroid defect in oxidation and organification of iodide	HP:0040282	ORPHA:226316
50506	DUOX2	HP:0100786	Hypersomnia	HP:0040283	ORPHA:226316
50506	DUOX2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:226316
50506	DUOX2	HP:0001070	Mottled pigmentation	HP:0040283	ORPHA:226316
50506	DUOX2	HP:0011437	Maternal autoimmune disease	-	ORPHA:95716
50506	DUOX2	HP:0011437	Maternal autoimmune disease	HP:0040283	ORPHA:226316
50506	DUOX2	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:95716
50506	DUOX2	HP:0004491	Large posterior fontanelle	HP:0040282	ORPHA:95716
50506	DUOX2	HP:0000851	Congenital hypothyroidism	HP:0040282	ORPHA:95716
50506	DUOX2	HP:0000851	Congenital hypothyroidism	-	OMIM:607200
50506	DUOX2	HP:0000853	Goiter	HP:0040282	ORPHA:226316
50506	DUOX2	HP:0000853	Goiter	HP:0040282	ORPHA:95716
50506	DUOX2	HP:0000821	Hypothyroidism	-	OMIM:607200
50506	DUOX2	HP:0003265	Neonatal hyperbilirubinemia	HP:0040283	ORPHA:95716
50506	DUOX2	HP:0000969	Edema	HP:0040284	ORPHA:226316
50506	DUOX2	HP:0000282	Facial edema	HP:0040283	ORPHA:95716
50506	DUOX2	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:95716
50506	DUOX2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:226316
50506	DUOX2	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:95716
50506	DUOX2	HP:0031507	Decreased circulating T4 concentration	HP:0040281	ORPHA:95716
50506	DUOX2	HP:0031507	Decreased circulating T4 concentration	HP:0040282	ORPHA:226316
50506	DUOX2	HP:0006579	Prolonged neonatal jaundice	HP:0040283	ORPHA:226316
50506	DUOX2	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:95716
50506	DUOX2	HP:0001615	Hoarse cry	HP:0040283	ORPHA:226316
50506	DUOX2	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	HP:0040281	ORPHA:95716
50506	DUOX2	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	HP:0040282	ORPHA:226316
50506	DUOX2	HP:0001662	Bradycardia	HP:0040283	ORPHA:95716
50506	DUOX2	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:95716
50506	DUOX2	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:95716
50511	SYCP3	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
50511	SYCP3	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
50511	SYCP3	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
50511	SYCP3	HP:0000027	Azoospermia	2/2	OMIM:270960
50511	SYCP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:270960
50511	SYCP3	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
50511	SYCP3	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
50511	SYCP3	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
50511	SYCP3	HP:0200067	Recurrent spontaneous abortion	-	OMIM:270960
50511	SYCP3	HP:0011462	Young adult onset	2/2	OMIM:270960
50511	SYCP3	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
50511	SYCP3	HP:0003251	Male infertility	2/2	OMIM:270960
50515	CHST11	HP:0001181	Adducted thumb	4/10	OMIM:618167
50515	CHST11	HP:0001156	Brachydactyly	10/10	OMIM:618167
50515	CHST11	HP:0009882	Short distal phalanx of finger	2/3	OMIM:618167
50515	CHST11	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
50515	CHST11	HP:0001293	Cranial nerve compression	-	OMIM:131300
50515	CHST11	HP:0001252	Hypotonia	2/7	OMIM:615777
50515	CHST11	HP:0001249	Intellectual disability	5/7	OMIM:615777
50515	CHST11	HP:0001263	Global developmental delay	-	OMIM:615777
50515	CHST11	HP:0002515	Waddling gait	54/102	OMIM:131300
50515	CHST11	HP:0001387	Joint stiffness	2/3	OMIM:618167
50515	CHST11	HP:0001382	Joint hypermobility	-	OMIM:615777
50515	CHST11	HP:0002694	Sclerosis of skull base	-	OMIM:131300
50515	CHST11	HP:0008897	Postnatal growth retardation	-	OMIM:615777
50515	CHST11	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
50515	CHST11	HP:0001324	Muscle weakness	40/96	OMIM:131300
50515	CHST11	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
50515	CHST11	HP:0000007	Autosomal recessive inheritance	-	OMIM:618167
50515	CHST11	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
50515	CHST11	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
50515	CHST11	HP:0002650	Scoliosis	5/6	OMIM:618167
50515	CHST11	HP:0002650	Scoliosis	12/14	OMIM:131300
50515	CHST11	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
50515	CHST11	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
50515	CHST11	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
50515	CHST11	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
50515	CHST11	HP:0000175	Cleft palate	2/7	OMIM:615777
50515	CHST11	HP:0003388	Easy fatigability	2/3	OMIM:618167
50515	CHST11	HP:0003388	Easy fatigability	36/76	OMIM:131300
50515	CHST11	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
50515	CHST11	HP:0010557	Overlapping fingers	5/10	OMIM:618167
50515	CHST11	HP:0003510	Severe short stature	7/7	OMIM:615777
50515	CHST11	HP:0003502	Mild short stature	10/10	OMIM:618167
50515	CHST11	HP:0001049	Absent dorsal skin creases over affected joints	4/10	OMIM:618167
50515	CHST11	HP:0002315	Headache	-	OMIM:131300
50515	CHST11	HP:0004976	Knee dislocation	6/7	OMIM:615777
50515	CHST11	HP:0009803	Short phalanx of finger	-	OMIM:615777
50515	CHST11	HP:0009774	Triangular shaped phalanges of the hand	1/3	OMIM:618167
50515	CHST11	HP:0009778	Short thumb	4/10	OMIM:618167
50515	CHST11	HP:0009763	Limb pain	63/92	OMIM:131300
50515	CHST11	HP:0003621	Juvenile onset	-	OMIM:131300
50515	CHST11	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
50515	CHST11	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
50515	CHST11	HP:6001056	Out-toeing	-	OMIM:131300
50515	CHST11	HP:0000651	Diplopia	-	OMIM:131300
50515	CHST11	HP:0001956	Truncal obesity	2/7	OMIM:615777
50515	CHST11	HP:0001903	Anemia	HP:0040283	OMIM:131300
50515	CHST11	HP:0010049	Short metacarpal	-	OMIM:615777
50515	CHST11	HP:0010055	Broad hallux	3/10	OMIM:618167
50515	CHST11	HP:0000678	Dental crowding	-	OMIM:615777
50515	CHST11	HP:0000670	Carious teeth	-	OMIM:131300
50515	CHST11	HP:0011304	Broad thumb	2/7	OMIM:615777
50515	CHST11	HP:0000668	Hypodontia	-	OMIM:615777
50515	CHST11	HP:0000664	Synophrys	-	OMIM:615777
50515	CHST11	HP:0004396	Poor appetite	-	OMIM:131300
50515	CHST11	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
50515	CHST11	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
50515	CHST11	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
50515	CHST11	HP:0003026	Short long bone	7/7	OMIM:615777
50515	CHST11	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
50515	CHST11	HP:0000767	Pectus excavatum	2/10	OMIM:618167
50515	CHST11	HP:0000767	Pectus excavatum	2/7	OMIM:615777
50515	CHST11	HP:0000768	Pectus carinatum	1/7	OMIM:615777
50515	CHST11	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
50515	CHST11	HP:0000750	Delayed speech and language development	-	OMIM:615777
50515	CHST11	HP:0011461	Fetal onset	7/7	OMIM:615777
50515	CHST11	HP:0010109	Short hallux	3/10	OMIM:618167
50515	CHST11	HP:0000774	Narrow chest	2/7	OMIM:615777
50515	CHST11	HP:0000926	Platyspondyly	1/7	OMIM:615777
50515	CHST11	HP:0003180	Flat acetabular roof	-	OMIM:615777
50515	CHST11	HP:0004482	Relative macrocephaly	-	OMIM:615777
50515	CHST11	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
50515	CHST11	HP:0000823	Delayed puberty	-	OMIM:131300
50515	CHST11	HP:0000894	Short clavicles	-	OMIM:615777
50515	CHST11	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
50515	CHST11	HP:0100259	Postaxial polydactyly	3/10	OMIM:618167
50515	CHST11	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
50515	CHST11	HP:0008080	Hallux varus	7/10	OMIM:618167
50515	CHST11	HP:0000286	Epicanthus	1/7	OMIM:615777
50515	CHST11	HP:0000280	Coarse facial features	2/7	OMIM:615777
50515	CHST11	HP:0002829	Arthralgia	2/3	OMIM:618167
50515	CHST11	HP:0002827	Hip dislocation	3/7	OMIM:615777
50515	CHST11	HP:0000252	Microcephaly	-	OMIM:615777
50515	CHST11	HP:0002857	Genu valgum	-	OMIM:131300
50515	CHST11	HP:0001533	Slender build	-	OMIM:131300
50515	CHST11	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
50515	CHST11	HP:0007807	Optic nerve compression	-	OMIM:131300
50515	CHST11	HP:0012368	Flat face	7/7	OMIM:615777
50515	CHST11	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
50515	CHST11	HP:0002938	Lumbar hyperlordosis	3/6	OMIM:618167
50515	CHST11	HP:0000365	Hearing impairment	10/67	OMIM:131300
50515	CHST11	HP:0000343	Long philtrum	1/7	OMIM:615777
50515	CHST11	HP:0011001	Increased bone mineral density	-	OMIM:131300
50515	CHST11	HP:0002999	Patellar dislocation	2/3	OMIM:618167
50515	CHST11	HP:0000311	Round face	2/7	OMIM:615777
50515	CHST11	HP:0002970	Genu varum	-	OMIM:615777
50515	CHST11	HP:0000303	Mandibular prognathia	-	OMIM:131300
50515	CHST11	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
50515	CHST11	HP:0000470	Short neck	1/7	OMIM:615777
50515	CHST11	HP:0001769	Broad foot	HP:0040283	OMIM:615777
50515	CHST11	HP:0001763	Pes planus	1/7	OMIM:615777
50515	CHST11	HP:0001845	Overlapping toe	6/10	OMIM:618167
50515	CHST11	HP:0001840	Metatarsus adductus	-	OMIM:615777
50515	CHST11	HP:0001852	Sandal gap	4/10	OMIM:618167
50515	CHST11	HP:0000520	Proptosis	2/4	OMIM:131300
50515	CHST11	HP:0000520	Proptosis	7/7	OMIM:615777
50515	CHST11	HP:0000592	Blue sclerae	2/7	OMIM:615777
50515	CHST11	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
50515	CHST11	HP:0012514	Lower limb pain	4/4	OMIM:131300
50615	IL21R	HP:0001399	Hepatic failure	1/4	OMIM:615207
50615	IL21R	HP:0001394	Cirrhosis	1/4	OMIM:615207
50615	IL21R	HP:0000007	Autosomal recessive inheritance	-	OMIM:615207
50615	IL21R	HP:0002719	Recurrent infections	4/4	OMIM:615207
50615	IL21R	HP:0002721	Immunodeficiency	-	OMIM:615207
50615	IL21R	HP:0002028	Chronic diarrhea	2/4	OMIM:615207
50615	IL21R	HP:0004798	Recurrent infection of the gastrointestinal tract	4/4	OMIM:615207
50615	IL21R	HP:0002110	Bronchiectasis	2/5	OMIM:615207
50615	IL21R	HP:0002205	Recurrent respiratory infections	5/5	OMIM:615207
50615	IL21R	HP:0200124	Chronic hepatitis due to cryptosporidium infection	4/4	OMIM:615207
50615	IL21R	HP:0020102	Pneumocystis jirovecii pneumonia	1/1	OMIM:615207
50615	IL21R	HP:0011463	Childhood onset	4/4	OMIM:615207
50615	IL21R	HP:0003139	Panhypogammaglobulinemia	1/1	OMIM:615207
50615	IL21R	HP:0001508	Failure to thrive	1/4	OMIM:615207
50615	IL21R	HP:0006532	Recurrent pneumonia	4/4	OMIM:615207
50615	IL21R	HP:0030151	Cholangitis	4/4	OMIM:615207
50615	IL21R	HP:0000403	Recurrent otitis media	1/1	OMIM:615207
50615	IL21R	HP:0011108	Recurrent sinusitis	1/4	OMIM:615207
50617	ATP6V0A4	HP:0008619	Bilateral sensorineural hearing impairment	9/23	OMIM:602722
50617	ATP6V0A4	HP:0000007	Autosomal recessive inheritance	-	OMIM:602722
50617	ATP6V0A4	HP:0000121	Nephrocalcinosis	19/21	OMIM:602722
50617	ATP6V0A4	HP:0002748	Rickets	2/9	OMIM:602722
50617	ATP6V0A4	HP:0002013	Vomiting	-	OMIM:602722
50617	ATP6V0A4	HP:0002150	Hypercalciuria	7/9	OMIM:602722
50617	ATP6V0A4	HP:0003593	Infantile onset	6/9	OMIM:602722
50617	ATP6V0A4	HP:0008341	Distal renal tubular acidosis	HP:0040280	OMIM:602722
50617	ATP6V0A4	HP:0003623	Neonatal onset	2/9	OMIM:602722
50617	ATP6V0A4	HP:0001944	Dehydration	-	OMIM:602722
50617	ATP6V0A4	HP:0001942	Metabolic acidosis	-	OMIM:602722
50617	ATP6V0A4	HP:0011463	Childhood onset	1/9	OMIM:602722
50617	ATP6V0A4	HP:0001508	Failure to thrive	-	OMIM:602722
50617	ATP6V0A4	HP:0001510	Growth delay	-	OMIM:602722
50617	ATP6V0A4	HP:0002900	Hypokalemia	25/27	OMIM:602722
50619	DEF6	HP:0032218	Decreased proportion of CD4-positive T cells	4/4	OMIM:619573
50619	DEF6	HP:0032229	Perinuclear antineutrophil antibody positivity	2/7	OMIM:619573
50619	DEF6	HP:0100806	Sepsis	1/3	OMIM:619573
50619	DEF6	HP:0002582	Atrophic gastritis	1/3	OMIM:619573
50619	DEF6	HP:0025289	Cervical lymphadenopathy	1/4	OMIM:619573
50619	DEF6	HP:0001397	Hepatic steatosis	1/3	OMIM:619573
50619	DEF6	HP:0001396	Cholestasis	1/3	OMIM:619573
50619	DEF6	HP:0001399	Hepatic failure	1/3	OMIM:619573
50619	DEF6	HP:0012050	Anasarca	1/3	OMIM:619573
50619	DEF6	HP:0000007	Autosomal recessive inheritance	-	OMIM:619573
50619	DEF6	HP:0012189	Hodgkin lymphoma	1/4	OMIM:619573
50619	DEF6	HP:0000175	Cleft palate	1/3	OMIM:619573
50619	DEF6	HP:0002718	Recurrent bacterial infections	2/2	OMIM:619573
50619	DEF6	HP:0002092	Pulmonary arterial hypertension	1/3	OMIM:619573
50619	DEF6	HP:0030948	Elevated gamma-glutamyltransferase level	1/3	OMIM:619573
50619	DEF6	HP:0033165	Necrotizing enterocolitis	1/3	OMIM:619573
50619	DEF6	HP:0002155	Hypertriglyceridemia	1/3	OMIM:619573
50619	DEF6	HP:0033222	Inverted CD4:CD8 ratio	3/4	OMIM:619573
50619	DEF6	HP:0003593	Infantile onset	1/3	OMIM:619573
50619	DEF6	HP:0002240	Hepatomegaly	2/3	OMIM:619573
50619	DEF6	HP:0002202	Pleural effusion	1/3	OMIM:619573
50619	DEF6	HP:0200128	Biventricular hypertrophy	1/3	OMIM:619573
50619	DEF6	HP:0011968	Feeding difficulties	1/3	OMIM:619573
50619	DEF6	HP:0020072	Persistent EBV viremia	3/4	OMIM:619573
50619	DEF6	HP:0003621	Juvenile onset	3/4	OMIM:619573
50619	DEF6	HP:0020136	Anticardiolipin IgG antibody positivity	1/3	OMIM:619573
50619	DEF6	HP:0034056	Increased fecal calprotectin level	1/1	OMIM:619573
50619	DEF6	HP:0001942	Metabolic acidosis	2/3	OMIM:619573
50619	DEF6	HP:0001954	Recurrent fever	1/4	OMIM:619573
50619	DEF6	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/3	OMIM:619573
50619	DEF6	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/3	OMIM:619573
50619	DEF6	HP:0011473	Villous atrophy	1/3	OMIM:619573
50619	DEF6	HP:0011463	Childhood onset	1/4	OMIM:619573
50619	DEF6	HP:0011461	Fetal onset	2/3	OMIM:619573
50619	DEF6	HP:0004429	Recurrent viral infections	2/2	OMIM:619573
50619	DEF6	HP:0003186	Inverted nipples	1/3	OMIM:619573
50619	DEF6	HP:0000822	Hypertension	1/3	OMIM:619573
50619	DEF6	HP:0000952	Jaundice	1/3	OMIM:619573
50619	DEF6	HP:0001562	Oligohydramnios	1/3	OMIM:619573
50619	DEF6	HP:0001541	Ascites	1/3	OMIM:619573
50619	DEF6	HP:0031378	Abnormal lymphocyte proliferation	1/4	OMIM:619573
50619	DEF6	HP:0001518	Small for gestational age	2/3	OMIM:619573
50619	DEF6	HP:0001511	Intrauterine growth retardation	2/3	OMIM:619573
50619	DEF6	HP:0001510	Growth delay	2/3	OMIM:619573
50619	DEF6	HP:0002841	Recurrent fungal infections	2/2	OMIM:619573
50619	DEF6	HP:0005208	Secretory diarrhea	1/3	OMIM:619573
50619	DEF6	HP:0002900	Hypokalemia	1/3	OMIM:619573
50619	DEF6	HP:0000316	Hypertelorism	1/3	OMIM:619573
50619	DEF6	HP:0001644	Dilated cardiomyopathy	1/3	OMIM:619573
50619	DEF6	HP:0001631	Atrial septal defect	1/3	OMIM:619573
50619	DEF6	HP:0006695	Atrioventricular canal defect	1/3	OMIM:619573
50619	DEF6	HP:0001709	Third degree atrioventricular block	1/3	OMIM:619573
50619	DEF6	HP:0011131	Perianal dermatitis	1/3	OMIM:619573
50619	DEF6	HP:0001788	Premature rupture of membranes	1/3	OMIM:619573
50619	DEF6	HP:0031692	Severe cytomegalovirus infection	1/4	OMIM:619573
50619	DEF6	HP:0011227	Elevated circulating C-reactive protein concentration	1/3	OMIM:619573
50619	DEF6	HP:0001890	Autoimmune hemolytic anemia	1/4	OMIM:619573
50619	DEF6	HP:0001888	Decreased total lymphocyte count	1/3	OMIM:619573
50619	DEF6	HP:0001878	Hemolytic anemia	1/3	OMIM:619573
50619	DEF6	HP:0001873	Thrombocytopenia	1/3	OMIM:619573
50628	GEMIN4	HP:0002421	Poor head control	1/3	OMIM:617913
50628	GEMIN4	HP:0003761	Calcinosis	-	OMIM:617913
50628	GEMIN4	HP:0001250	Seizure	3/3	OMIM:617913
50628	GEMIN4	HP:0001252	Hypotonia	2/3	OMIM:617913
50628	GEMIN4	HP:0001265	Hyporeflexia	1/3	OMIM:617913
50628	GEMIN4	HP:0001257	Spasticity	1/3	OMIM:617913
50628	GEMIN4	HP:0002540	Inability to walk	1/3	OMIM:617913
50628	GEMIN4	HP:0000089	Renal hypoplasia	-	OMIM:617913
50628	GEMIN4	HP:0001374	Congenital hip dislocation	1/3	OMIM:617913
50628	GEMIN4	HP:0002656	Epiphyseal dysplasia	1/3	OMIM:617913
50628	GEMIN4	HP:0001344	Absent speech	1/3	OMIM:617913
50628	GEMIN4	HP:0000007	Autosomal recessive inheritance	-	OMIM:617913
50628	GEMIN4	HP:0000121	Nephrocalcinosis	1/3	OMIM:617913
50628	GEMIN4	HP:0002783	Recurrent lower respiratory tract infections	1/3	OMIM:617913
50628	GEMIN4	HP:0000126	Hydronephrosis	1/3	OMIM:617913
50628	GEMIN4	HP:0003355	Aminoaciduria	1/3	OMIM:617913
50628	GEMIN4	HP:0002020	Gastroesophageal reflux	3/3	OMIM:617913
50628	GEMIN4	HP:0002015	Dysphagia	-	OMIM:617913
50628	GEMIN4	HP:0002188	Delayed CNS myelination	1/3	OMIM:617913
50628	GEMIN4	HP:0003593	Infantile onset	3/3	OMIM:617913
50628	GEMIN4	HP:0011968	Feeding difficulties	1/3	OMIM:617913
50628	GEMIN4	HP:0007068	Inferior cerebellar vermis hypoplasia	1/3	OMIM:617913
50628	GEMIN4	HP:0000648	Optic atrophy	1/3	OMIM:617913
50628	GEMIN4	HP:0001920	Renal artery stenosis	1/3	OMIM:617913
50628	GEMIN4	HP:0011344	Severe global developmental delay	3/3	OMIM:617913
50628	GEMIN4	HP:0000822	Hypertension	1/3	OMIM:617913
50628	GEMIN4	HP:0000938	Osteopenia	2/6	OMIM:617913
50628	GEMIN4	HP:0000252	Microcephaly	3/3	OMIM:617913
50628	GEMIN4	HP:0000218	High palate	1/3	OMIM:617913
50628	GEMIN4	HP:0001510	Growth delay	1/3	OMIM:617913
50628	GEMIN4	HP:0002902	Hyponatremia	1/3	OMIM:617913
50628	GEMIN4	HP:0002900	Hypokalemia	1/3	OMIM:617913
50628	GEMIN4	HP:0002901	Hypocalcemia	1/3	OMIM:617913
50628	GEMIN4	HP:0000347	Micrognathia	1/3	OMIM:617913
50628	GEMIN4	HP:0032988	Persistent head lag	1/3	OMIM:617913
50628	GEMIN4	HP:0012444	Brain atrophy	1/3	OMIM:617913
50628	GEMIN4	HP:0001744	Splenomegaly	1/3	OMIM:617913
50628	GEMIN4	HP:0000518	Cataract	3/3	OMIM:617913
50640	PNPLA8	HP:0003737	Mitochondrial myopathy	-	OMIM:251950
50640	PNPLA8	HP:0003701	Proximal muscle weakness	1/1	OMIM:251950
50640	PNPLA8	HP:0001250	Seizure	1/1	OMIM:251950
50640	PNPLA8	HP:0001252	Hypotonia	1/1	OMIM:251950
50640	PNPLA8	HP:0001260	Dysarthria	1/1	OMIM:251950
50640	PNPLA8	HP:0001257	Spasticity	1/1	OMIM:251950
50640	PNPLA8	HP:0001332	Dystonia	1/1	OMIM:251950
50640	PNPLA8	HP:0000007	Autosomal recessive inheritance	-	OMIM:251950
50640	PNPLA8	HP:0001310	Dysmetria	1/1	OMIM:251950
50640	PNPLA8	HP:0003391	Gowers sign	1/1	OMIM:251950
50640	PNPLA8	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:251950
50640	PNPLA8	HP:0003542	Increased circulating pyruvate concentration	1/1	OMIM:251950
50640	PNPLA8	HP:0002384	Focal impaired awareness seizure	1/1	OMIM:251950
50640	PNPLA8	HP:0003676	Progressive	-	OMIM:251950
50640	PNPLA8	HP:0031962	Elevated serum anion gap	1/1	OMIM:251950
50640	PNPLA8	HP:0011463	Childhood onset	1/1	OMIM:251950
50640	PNPLA8	HP:0003128	Lactic acidosis	1/1	OMIM:251950
50640	PNPLA8	HP:0030051	Tip-toe gait	1/1	OMIM:251950
50640	PNPLA8	HP:0012378	Fatigue	1/1	OMIM:251950
50640	PNPLA8	HP:0012446	Decreased CSF 5-methyltetrahydrofolate concentration	1/1	OMIM:251950
50651	SLC45A1	HP:0001290	Generalized hypotonia	-	OMIM:617532
50651	SLC45A1	HP:0001250	Seizure	-	OMIM:617532
50651	SLC45A1	HP:0001263	Global developmental delay	-	OMIM:617532
50651	SLC45A1	HP:0008770	Obsessive-compulsive trait	-	OMIM:617532
50651	SLC45A1	HP:0002553	Highly arched eyebrow	-	OMIM:617532
50651	SLC45A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617532
50651	SLC45A1	HP:0002342	Intellectual disability, moderate	-	OMIM:617532
50651	SLC45A1	HP:0000739	Anxiety	-	OMIM:617532
50651	SLC45A1	HP:0000708	Atypical behavior	-	OMIM:617532
50651	SLC45A1	HP:0000233	Thin vermilion border	-	OMIM:617532
50651	SLC45A1	HP:0000319	Smooth philtrum	-	OMIM:617532
50651	SLC45A1	HP:0000316	Hypertelorism	-	OMIM:617532
50651	SLC45A1	HP:0000325	Triangular face	-	OMIM:617532
50651	SLC45A1	HP:0005280	Depressed nasal bridge	-	OMIM:617532
50651	SLC45A1	HP:0000494	Downslanted palpebral fissures	-	OMIM:617532
50674	NEUROG3	HP:0025354	Abnormal cellular phenotype	HP:0040282	ORPHA:83620
50674	NEUROG3	HP:0000007	Autosomal recessive inheritance	-	OMIM:610370
50674	NEUROG3	HP:0002611	Cholestatic liver disease	HP:0040282	ORPHA:83620
50674	NEUROG3	HP:0001409	Portal hypertension	HP:0040282	ORPHA:83620
50674	NEUROG3	HP:0002024	Malabsorption	HP:0040281	ORPHA:83620
50674	NEUROG3	HP:0002014	Diarrhea	-	OMIM:610370
50674	NEUROG3	HP:0002014	Diarrhea	HP:0040281	ORPHA:83620
50674	NEUROG3	HP:0002013	Vomiting	-	OMIM:610370
50674	NEUROG3	HP:0002013	Vomiting	HP:0040281	ORPHA:83620
50674	NEUROG3	HP:0100651	Type I diabetes mellitus	HP:0040282	ORPHA:83620
50674	NEUROG3	HP:0003623	Neonatal onset	-	OMIM:610370
50674	NEUROG3	HP:0004918	Hyperchloremic metabolic acidosis	-	OMIM:610370
50674	NEUROG3	HP:0004918	Hyperchloremic metabolic acidosis	HP:0040281	ORPHA:83620
50674	NEUROG3	HP:0001944	Dehydration	HP:0040281	ORPHA:83620
50674	NEUROG3	HP:0001944	Dehydration	-	OMIM:610370
50674	NEUROG3	HP:0001508	Failure to thrive	-	OMIM:610370
50717	DCAF8	HP:0002460	Distal muscle weakness	-	OMIM:610100
50717	DCAF8	HP:0001284	Areflexia	-	OMIM:610100
50717	DCAF8	HP:0001265	Hyporeflexia	-	OMIM:610100
50717	DCAF8	HP:0000006	Autosomal dominant inheritance	-	OMIM:610100
50717	DCAF8	HP:0003376	Steppage gait	-	OMIM:610100
50717	DCAF8	HP:0003383	Onion bulb formation	-	OMIM:610100
50717	DCAF8	HP:0003477	Peripheral axonal neuropathy	-	OMIM:610100
50717	DCAF8	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:610100
50717	DCAF8	HP:0003444	EMG: chronic denervation signs	-	OMIM:610100
50717	DCAF8	HP:0003693	Distal amyotrophy	-	OMIM:610100
50717	DCAF8	HP:0006886	Impaired distal vibration sensation	-	OMIM:610100
50717	DCAF8	HP:0006937	Impaired distal tactile sensation	-	OMIM:610100
50717	DCAF8	HP:0001638	Cardiomyopathy	-	OMIM:610100
50717	DCAF8	HP:0001765	Hammertoe	-	OMIM:610100
50717	DCAF8	HP:0001761	Pes cavus	-	OMIM:610100
50801	KCNK4	HP:0001156	Brachydactyly	1/3	OMIM:618381
50801	KCNK4	HP:0010862	Delayed fine motor development	2/2	OMIM:618381
50801	KCNK4	HP:0001252	Hypotonia	2/3	OMIM:618381
50801	KCNK4	HP:0001249	Intellectual disability	3/3	OMIM:618381
50801	KCNK4	HP:0001263	Global developmental delay	3/3	OMIM:618381
50801	KCNK4	HP:0100874	Thick hair	3/3	OMIM:618381
50801	KCNK4	HP:0001385	Hip dysplasia	1/3	OMIM:618381
50801	KCNK4	HP:0001347	Hyperreflexia	1/2	OMIM:618381
50801	KCNK4	HP:0000006	Autosomal dominant inheritance	-	OMIM:618381
50801	KCNK4	HP:0000154	Wide mouth	2/3	OMIM:618381
50801	KCNK4	HP:0002002	Deep philtrum	2/3	OMIM:618381
50801	KCNK4	HP:0002080	Intention tremor	1/3	OMIM:618381
50801	KCNK4	HP:0002069	Bilateral tonic-clonic seizure	1/3	OMIM:618381
50801	KCNK4	HP:0002079	Hypoplasia of the corpus callosum	1/3	OMIM:618381
50801	KCNK4	HP:0002119	Ventriculomegaly	1/3	OMIM:618381
50801	KCNK4	HP:0002194	Delayed gross motor development	2/3	OMIM:618381
50801	KCNK4	HP:0002266	Focal clonic seizure	1/3	OMIM:618381
50801	KCNK4	HP:0003577	Congenital onset	3/3	OMIM:618381
50801	KCNK4	HP:0011968	Feeding difficulties	2/3	OMIM:618381
50801	KCNK4	HP:0010803	Everted upper lip vermilion	3/3	OMIM:618381
50801	KCNK4	HP:0004209	Clinodactyly of the 5th finger	1/3	OMIM:618381
50801	KCNK4	HP:0000639	Nystagmus	2/3	OMIM:618381
50801	KCNK4	HP:0000609	Optic nerve hypoplasia	2/3	OMIM:618381
50801	KCNK4	HP:0000664	Synophrys	1/3	OMIM:618381
50801	KCNK4	HP:0000750	Delayed speech and language development	2/2	OMIM:618381
50801	KCNK4	HP:0000998	Hypertrichosis	3/3	OMIM:618381
50801	KCNK4	HP:0000297	Facial hypotonia	1/3	OMIM:618381
50801	KCNK4	HP:0000219	Thin upper lip vermilion	3/3	OMIM:618381
50801	KCNK4	HP:0000212	Gingival overgrowth	3/3	OMIM:618381
50801	KCNK4	HP:0000201	Pierre-Robin sequence	1/3	OMIM:618381
50801	KCNK4	HP:0000369	Low-set ears	2/3	OMIM:618381
50801	KCNK4	HP:0000341	Narrow forehead	2/3	OMIM:618381
50801	KCNK4	HP:0000347	Micrognathia	3/3	OMIM:618381
50801	KCNK4	HP:0000322	Short philtrum	3/3	OMIM:618381
50801	KCNK4	HP:0000490	Deeply set eye	1/3	OMIM:618381
50801	KCNK4	HP:0000527	Long eyelashes	3/3	OMIM:618381
50801	KCNK4	HP:0011228	Horizontal eyebrow	3/3	OMIM:618381
50801	KCNK4	HP:0000574	Thick eyebrow	3/3	OMIM:618381
50814	NSDHL	HP:0001159	Syndactyly	HP:0040284	ORPHA:139
50814	NSDHL	HP:0001159	Syndactyly	1/1	OMIM:308050
50814	NSDHL	HP:0003764	Nevus	1/2	OMIM:308050
50814	NSDHL	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
50814	NSDHL	HP:0001293	Cranial nerve compression	-	OMIM:131300
50814	NSDHL	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:251383
50814	NSDHL	HP:0001290	Generalized hypotonia	-	OMIM:300831
50814	NSDHL	HP:0100803	Abnormal periungual morphology	HP:0040282	ORPHA:139
50814	NSDHL	HP:0100807	Long fingers	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0001256	Intellectual disability, mild	-	OMIM:308050
50814	NSDHL	HP:0001250	Seizure	-	OMIM:300831
50814	NSDHL	HP:0001250	Seizure	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0001252	Hypotonia	2/7	OMIM:615777
50814	NSDHL	HP:0001249	Intellectual disability	-	OMIM:300831
50814	NSDHL	HP:0001249	Intellectual disability	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0001249	Intellectual disability	5/7	OMIM:615777
50814	NSDHL	HP:0001263	Global developmental delay	-	OMIM:300831
50814	NSDHL	HP:0001263	Global developmental delay	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0001263	Global developmental delay	-	OMIM:615777
50814	NSDHL	HP:0007431	Congenital ichthyosiform erythroderma	HP:0040280	OMIM:308050
50814	NSDHL	HP:0007431	Congenital ichthyosiform erythroderma	HP:0040282	ORPHA:139
50814	NSDHL	HP:0006101	Finger syndactyly	1/1	OMIM:308050
50814	NSDHL	HP:0002538	Abnormal cerebral cortex morphology	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0002515	Waddling gait	54/102	OMIM:131300
50814	NSDHL	HP:0003826	Stillbirth	-	OMIM:308050
50814	NSDHL	HP:0001374	Congenital hip dislocation	HP:0040283	OMIM:308050
50814	NSDHL	HP:0001371	Flexion contracture	HP:0040283	OMIM:308050
50814	NSDHL	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:251383
50814	NSDHL	HP:0001382	Joint hypermobility	-	OMIM:300831
50814	NSDHL	HP:0001382	Joint hypermobility	-	OMIM:615777
50814	NSDHL	HP:0002694	Sclerosis of skull base	-	OMIM:131300
50814	NSDHL	HP:0008897	Postnatal growth retardation	-	OMIM:615777
50814	NSDHL	HP:0008883	Mild intrauterine growth retardation	-	OMIM:308050
50814	NSDHL	HP:0008839	Hypoplastic pelvis	12/20	OMIM:308050
50814	NSDHL	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
50814	NSDHL	HP:0001324	Muscle weakness	40/96	OMIM:131300
50814	NSDHL	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
50814	NSDHL	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
50814	NSDHL	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
50814	NSDHL	HP:0001302	Pachygyria	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0001302	Pachygyria	-	OMIM:300831
50814	NSDHL	HP:0002650	Scoliosis	HP:0040283	ORPHA:139
50814	NSDHL	HP:0002650	Scoliosis	HP:0040283	OMIM:308050
50814	NSDHL	HP:0002650	Scoliosis	-	OMIM:300831
50814	NSDHL	HP:0002650	Scoliosis	12/14	OMIM:131300
50814	NSDHL	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
50814	NSDHL	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
50814	NSDHL	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
50814	NSDHL	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
50814	NSDHL	HP:0012165	Oligodactyly	HP:0040283	ORPHA:139
50814	NSDHL	HP:0000175	Cleft palate	2/7	OMIM:615777
50814	NSDHL	HP:0000122	Unilateral renal agenesis	1/1	OMIM:308050
50814	NSDHL	HP:0025406	Asthenia	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0000126	Hydronephrosis	HP:0040284	ORPHA:139
50814	NSDHL	HP:0000126	Hydronephrosis	-	OMIM:308050
50814	NSDHL	HP:0001423	X-linked dominant inheritance	-	OMIM:308050
50814	NSDHL	HP:0000104	Renal agenesis	HP:0040284	ORPHA:139
50814	NSDHL	HP:0002751	Kyphoscoliosis	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0001419	X-linked recessive inheritance	-	OMIM:300831
50814	NSDHL	HP:0004692	4-5 toe syndactyly	1/1	OMIM:308050
50814	NSDHL	HP:0005990	Thyroid hypoplasia	HP:0040283	OMIM:308050
50814	NSDHL	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:139
50814	NSDHL	HP:0003307	Hyperlordosis	-	OMIM:300831
50814	NSDHL	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:139
50814	NSDHL	HP:0002089	Pulmonary hypoplasia	HP:0040283	OMIM:308050
50814	NSDHL	HP:0003388	Easy fatigability	36/76	OMIM:131300
50814	NSDHL	HP:0010442	Polydactyly	HP:0040284	ORPHA:139
50814	NSDHL	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
50814	NSDHL	HP:0009438	Absent middle phalanx of 3rd finger	1/1	OMIM:308050
50814	NSDHL	HP:0009429	Aplasia of the distal phalanx of the 3rd finger	1/1	OMIM:308050
50814	NSDHL	HP:0003465	Elevated 8(9)-cholestenol	HP:0040283	OMIM:308050
50814	NSDHL	HP:0003462	Elevated 8-dehydrocholesterol	HP:0040283	OMIM:308050
50814	NSDHL	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0002126	Polymicrogyria	-	OMIM:300831
50814	NSDHL	HP:0009576	Absent middle phalanx of 2nd finger	1/1	OMIM:308050
50814	NSDHL	HP:0009565	Aplasia of the distal phalanx of the 2nd finger	1/1	OMIM:308050
50814	NSDHL	HP:0010511	Long toe	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0003577	Congenital onset	3/3	OMIM:308050
50814	NSDHL	HP:0008417	Vertebral hypoplasia	HP:0040283	OMIM:308050
50814	NSDHL	HP:0010655	Epiphyseal stippling	HP:0040281	OMIM:308050
50814	NSDHL	HP:0010655	Epiphyseal stippling	HP:0040281	ORPHA:139
50814	NSDHL	HP:0003510	Severe short stature	7/7	OMIM:615777
50814	NSDHL	HP:0008394	Congenital onychodystrophy	HP:0040282	ORPHA:139
50814	NSDHL	HP:0002381	Aphasia	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0001036	Parakeratosis	2/3	OMIM:308050
50814	NSDHL	HP:0001036	Parakeratosis	HP:0040282	ORPHA:139
50814	NSDHL	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0002360	Sleep abnormality	-	OMIM:300831
50814	NSDHL	HP:0003651	Foam cells	HP:0040283	ORPHA:139
50814	NSDHL	HP:0002315	Headache	-	OMIM:131300
50814	NSDHL	HP:0004976	Knee dislocation	6/7	OMIM:615777
50814	NSDHL	HP:0025092	Epidermal acanthosis	HP:0040282	ORPHA:139
50814	NSDHL	HP:0025092	Epidermal acanthosis	1/2	OMIM:308050
50814	NSDHL	HP:0009827	Amelia	HP:0040283	ORPHA:139
50814	NSDHL	HP:0010816	Epidermal nevus	1/2	OMIM:308050
50814	NSDHL	HP:0009803	Short phalanx of finger	-	OMIM:615777
50814	NSDHL	HP:0010783	Erythema	1/1	OMIM:308050
50814	NSDHL	HP:0010760	Absent toe	2/2	OMIM:308050
50814	NSDHL	HP:0009763	Limb pain	63/92	OMIM:131300
50814	NSDHL	HP:0003621	Juvenile onset	-	OMIM:131300
50814	NSDHL	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
50814	NSDHL	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
50814	NSDHL	HP:6001056	Out-toeing	-	OMIM:131300
50814	NSDHL	HP:0000651	Diplopia	-	OMIM:131300
50814	NSDHL	HP:0001956	Truncal obesity	2/7	OMIM:615777
50814	NSDHL	HP:0001903	Anemia	HP:0040283	OMIM:131300
50814	NSDHL	HP:0010049	Short metacarpal	HP:0040282	ORPHA:139
50814	NSDHL	HP:0010049	Short metacarpal	-	OMIM:615777
50814	NSDHL	HP:0000678	Dental crowding	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0000678	Dental crowding	-	OMIM:615777
50814	NSDHL	HP:0000678	Dental crowding	-	OMIM:300831
50814	NSDHL	HP:0000670	Carious teeth	-	OMIM:131300
50814	NSDHL	HP:0011304	Broad thumb	2/7	OMIM:615777
50814	NSDHL	HP:0000668	Hypodontia	-	OMIM:615777
50814	NSDHL	HP:0000664	Synophrys	-	OMIM:615777
50814	NSDHL	HP:0004322	Short stature	HP:0040283	OMIM:308050
50814	NSDHL	HP:0005650	2-5 finger cutaneous syndactyly	1/1	OMIM:308050
50814	NSDHL	HP:0004396	Poor appetite	-	OMIM:131300
50814	NSDHL	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
50814	NSDHL	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
50814	NSDHL	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
50814	NSDHL	HP:0003026	Short long bone	7/7	OMIM:615777
50814	NSDHL	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
50814	NSDHL	HP:0000752	Hyperactivity	HP:0040282	ORPHA:251383
50814	NSDHL	HP:0000752	Hyperactivity	-	OMIM:300831
50814	NSDHL	HP:0000767	Pectus excavatum	2/7	OMIM:615777
50814	NSDHL	HP:0000768	Pectus carinatum	1/7	OMIM:615777
50814	NSDHL	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
50814	NSDHL	HP:0000737	Irritability	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0000737	Irritability	-	OMIM:300831
50814	NSDHL	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0000750	Delayed speech and language development	-	OMIM:300831
50814	NSDHL	HP:0000750	Delayed speech and language development	-	OMIM:615777
50814	NSDHL	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:251383
50814	NSDHL	HP:0000718	Aggressive behavior	-	OMIM:300831
50814	NSDHL	HP:0000708	Atypical behavior	HP:0040282	ORPHA:251383
50814	NSDHL	HP:0011461	Fetal onset	7/7	OMIM:615777
50814	NSDHL	HP:0000774	Narrow chest	2/7	OMIM:615777
50814	NSDHL	HP:0000773	Short ribs	HP:0040283	OMIM:308050
50814	NSDHL	HP:0003107	Abnormal circulating cholesterol concentration	-	ORPHA:251383
50814	NSDHL	HP:0003103	Abnormal cortical bone morphology	-	OMIM:300831
50814	NSDHL	HP:0000926	Platyspondyly	1/7	OMIM:615777
50814	NSDHL	HP:0003180	Flat acetabular roof	-	OMIM:615777
50814	NSDHL	HP:0004482	Relative macrocephaly	-	OMIM:615777
50814	NSDHL	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
50814	NSDHL	HP:0000882	Hypoplastic scapulae	HP:0040283	OMIM:308050
50814	NSDHL	HP:0000835	Adrenal hypoplasia	HP:0040283	OMIM:308050
50814	NSDHL	HP:0000823	Delayed puberty	-	OMIM:131300
50814	NSDHL	HP:0000894	Short clavicles	HP:0040283	OMIM:308050
50814	NSDHL	HP:0000894	Short clavicles	-	OMIM:615777
50814	NSDHL	HP:0004552	Scarring alopecia of scalp	HP:0040283	ORPHA:139
50814	NSDHL	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
50814	NSDHL	HP:0045060	Aplasia/hypoplasia involving bones of the extremities	HP:0040282	ORPHA:139
50814	NSDHL	HP:0000954	Single transverse palmar crease	1/1	OMIM:308050
50814	NSDHL	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
50814	NSDHL	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:139
50814	NSDHL	HP:0000962	Hyperkeratosis	2/2	OMIM:308050
50814	NSDHL	HP:0040162	Orthokeratosis	1/1	OMIM:308050
50814	NSDHL	HP:0000286	Epicanthus	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0000286	Epicanthus	-	OMIM:300831
50814	NSDHL	HP:0000286	Epicanthus	1/7	OMIM:615777
50814	NSDHL	HP:0000280	Coarse facial features	2/7	OMIM:615777
50814	NSDHL	HP:0000278	Retrognathia	-	OMIM:300831
50814	NSDHL	HP:0001596	Alopecia	HP:0040283	OMIM:308050
50814	NSDHL	HP:0000275	Narrow face	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0000275	Narrow face	-	OMIM:300831
50814	NSDHL	HP:0000276	Long face	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0000276	Long face	-	OMIM:300831
50814	NSDHL	HP:0000272	Malar flattening	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0000272	Malar flattening	-	OMIM:300831
50814	NSDHL	HP:0002827	Hip dislocation	3/7	OMIM:615777
50814	NSDHL	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:139
50814	NSDHL	HP:0002808	Kyphosis	-	OMIM:300831
50814	NSDHL	HP:0000252	Microcephaly	-	OMIM:300831
50814	NSDHL	HP:0000252	Microcephaly	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0000252	Microcephaly	-	OMIM:615777
50814	NSDHL	HP:0000218	High palate	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0000218	High palate	-	OMIM:300831
50814	NSDHL	HP:0002857	Genu valgum	-	OMIM:131300
50814	NSDHL	HP:0001537	Umbilical hernia	-	OMIM:308050
50814	NSDHL	HP:0001533	Slender build	-	OMIM:300831
50814	NSDHL	HP:0001533	Slender build	-	OMIM:131300
50814	NSDHL	HP:0001533	Slender build	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0000204	Cleft upper lip	-	OMIM:308050
50814	NSDHL	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
50814	NSDHL	HP:0007807	Optic nerve compression	-	OMIM:131300
50814	NSDHL	HP:0031517	Verruciform xanthoma	HP:0040282	ORPHA:139
50814	NSDHL	HP:0012368	Flat face	7/7	OMIM:615777
50814	NSDHL	HP:0007874	Almond-shaped palpebral fissure	-	OMIM:300831
50814	NSDHL	HP:0007874	Almond-shaped palpebral fissure	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0002938	Lumbar hyperlordosis	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
50814	NSDHL	HP:0000365	Hearing impairment	HP:0040283	OMIM:308050
50814	NSDHL	HP:0000365	Hearing impairment	10/67	OMIM:131300
50814	NSDHL	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0000358	Posteriorly rotated ears	-	OMIM:300831
50814	NSDHL	HP:0001671	Abnormal cardiac septum morphology	-	OMIM:308050
50814	NSDHL	HP:0000343	Long philtrum	1/7	OMIM:615777
50814	NSDHL	HP:0011001	Increased bone mineral density	-	OMIM:131300
50814	NSDHL	HP:0000347	Micrognathia	HP:0040283	OMIM:308050
50814	NSDHL	HP:0000347	Micrognathia	-	OMIM:300831
50814	NSDHL	HP:0002977	Aplasia/Hypoplasia involving the central nervous system	HP:0040283	OMIM:308050
50814	NSDHL	HP:0000311	Round face	2/7	OMIM:615777
50814	NSDHL	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:139
50814	NSDHL	HP:0002970	Genu varum	-	OMIM:615777
50814	NSDHL	HP:0000308	Microretrognathia	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0000303	Mandibular prognathia	-	OMIM:131300
50814	NSDHL	HP:0005280	Depressed nasal bridge	1/1	OMIM:308050
50814	NSDHL	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
50814	NSDHL	HP:0000486	Strabismus	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0000486	Strabismus	-	OMIM:300831
50814	NSDHL	HP:0001792	Small nail	1/1	OMIM:308050
50814	NSDHL	HP:0000470	Short neck	1/7	OMIM:615777
50814	NSDHL	HP:0001769	Broad foot	HP:0040283	OMIM:615777
50814	NSDHL	HP:0001763	Pes planus	1/7	OMIM:615777
50814	NSDHL	HP:0001750	Single ventricle	-	OMIM:308050
50814	NSDHL	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0000426	Prominent nasal bridge	-	OMIM:300831
50814	NSDHL	HP:0011297	Abnormal digit morphology	-	OMIM:300831
50814	NSDHL	HP:0001840	Metatarsus adductus	-	OMIM:615777
50814	NSDHL	HP:0000520	Proptosis	2/4	OMIM:131300
50814	NSDHL	HP:0000520	Proptosis	7/7	OMIM:615777
50814	NSDHL	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:251383
50814	NSDHL	HP:0000582	Upslanted palpebral fissure	-	OMIM:300831
50814	NSDHL	HP:0000592	Blue sclerae	2/7	OMIM:615777
50814	NSDHL	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
50814	NSDHL	HP:0012514	Lower limb pain	4/4	OMIM:131300
50833	TAS2R16	HP:0001426	Non-Mendelian inheritance	-	OMIM:103780
50833	TAS2R16	HP:0030955	Addictive alcohol use	-	OMIM:103780
50846	DHH	HP:0002460	Distal muscle weakness	HP:0040281	ORPHA:168563
50846	DHH	HP:0001271	Polyneuropathy	3/3	OMIM:607080
50846	DHH	HP:0001271	Polyneuropathy	HP:0040281	ORPHA:168563
50846	DHH	HP:0001265	Hyporeflexia	2/2	OMIM:607080
50846	DHH	HP:0008715	Testicular dysgenesis	HP:0040281	ORPHA:242
50846	DHH	HP:0008715	Testicular dysgenesis	HP:0040281	ORPHA:168563
50846	DHH	HP:0008723	Gonadal dysgenesis with female appearance, male	HP:0040281	ORPHA:168563
50846	DHH	HP:0008697	Hypoplasia of the fallopian tube	HP:0040282	OMIM:233420
50846	DHH	HP:0008668	Gonadal dysgenesis, male	6/6	OMIM:233420
50846	DHH	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:242
50846	DHH	HP:0000037	Male pseudohermaphroditism	HP:0040281	ORPHA:242
50846	DHH	HP:0000055	Abnormal female external genitalia morphology	HP:0040281	ORPHA:168563
50846	DHH	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:168563
50846	DHH	HP:0000013	Hypoplasia of the uterus	HP:0040282	OMIM:233420
50846	DHH	HP:0000013	Hypoplasia of the uterus	HP:0040281	ORPHA:168563
50846	DHH	HP:0000007	Autosomal recessive inheritance	-	OMIM:607080
50846	DHH	HP:0000007	Autosomal recessive inheritance	-	OMIM:233420
50846	DHH	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:168563
50846	DHH	HP:0000142	Abnormal vagina morphology	HP:0040281	ORPHA:168563
50846	DHH	HP:0000150	Gonadoblastoma	2/6	OMIM:233420
50846	DHH	HP:0000150	Gonadoblastoma	HP:0040283	ORPHA:168563
50846	DHH	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:242
50846	DHH	HP:0000133	Gonadal dysgenesis	1/1	OMIM:607080
50846	DHH	HP:0000133	Gonadal dysgenesis	HP:0040281	ORPHA:168563
50846	DHH	HP:0003376	Steppage gait	HP:0040283	ORPHA:168563
50846	DHH	HP:0003380	Decreased number of peripheral myelinated nerve fibers	1/1	OMIM:607080
50846	DHH	HP:0010464	Streak ovary	6/6	OMIM:233420
50846	DHH	HP:0010464	Streak ovary	HP:0040281	ORPHA:168563
50846	DHH	HP:0003434	Sensory ataxic neuropathy	HP:0040281	ORPHA:168563
50846	DHH	HP:0003409	Distal sensory impairment of all modalities	HP:0040281	ORPHA:168563
50846	DHH	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:168563
50846	DHH	HP:0003577	Congenital onset	-	OMIM:607080
50846	DHH	HP:0009714	Abnormal epididymis morphology	HP:0040282	OMIM:233420
50846	DHH	HP:0100621	Dysgerminoma	1/6	OMIM:233420
50846	DHH	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:168563
50846	DHH	HP:0006886	Impaired distal vibration sensation	2/2	OMIM:607080
50846	DHH	HP:0006937	Impaired distal tactile sensation	2/2	OMIM:607080
50846	DHH	HP:0000789	Infertility	HP:0040281	ORPHA:168563
50846	DHH	HP:0000786	Primary amenorrhea	-	OMIM:233420
50846	DHH	HP:0000786	Primary amenorrhea	2/2	OMIM:607080
50846	DHH	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:168563
50846	DHH	HP:0003134	Abnormality of peripheral nerve conduction	HP:0040281	ORPHA:168563
50846	DHH	HP:0003130	Abnormal peripheral myelination	HP:0040281	ORPHA:168563
50846	DHH	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:168563
50846	DHH	HP:0000815	Hypergonadotropic hypogonadism	2/2	OMIM:607080
50846	DHH	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:168563
50846	DHH	HP:0045010	Abnormal peripheral nerve morphology by anatomical site	HP:0040281	ORPHA:168563
50846	DHH	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:168563
50846	DHH	HP:0012245	Sex reversal	6/6	OMIM:233420
50846	DHH	HP:0001761	Pes cavus	HP:0040283	ORPHA:168563
50937	CDON	HP:0002465	Poor speech	HP:0040283	ORPHA:93926
50937	CDON	HP:0002465	Poor speech	HP:0040282	ORPHA:93924
50937	CDON	HP:0002465	Poor speech	HP:0040283	ORPHA:93925
50937	CDON	HP:0002465	Poor speech	HP:0040283	ORPHA:220386
50937	CDON	HP:0002474	Expressive language delay	HP:0040282	ORPHA:280195
50937	CDON	HP:0002451	Limb dystonia	HP:0040282	ORPHA:220386
50937	CDON	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93926
50937	CDON	HP:0002451	Limb dystonia	HP:0040283	ORPHA:93924
50937	CDON	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93925
50937	CDON	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:220386
50937	CDON	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93926
50937	CDON	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:93924
50937	CDON	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93925
50937	CDON	HP:0009932	Single naris	HP:0040283	ORPHA:220386
50937	CDON	HP:0009932	Single naris	HP:0040283	ORPHA:93926
50937	CDON	HP:0009932	Single naris	HP:0040284	ORPHA:93924
50937	CDON	HP:0009932	Single naris	HP:0040283	ORPHA:93925
50937	CDON	HP:0009914	Cyclopia	HP:0040283	ORPHA:280200
50937	CDON	HP:0009914	Cyclopia	HP:0040283	ORPHA:220386
50937	CDON	HP:0009914	Cyclopia	HP:0040283	ORPHA:93926
50937	CDON	HP:0009914	Cyclopia	HP:0040284	ORPHA:93924
50937	CDON	HP:0009914	Cyclopia	HP:0040283	ORPHA:93925
50937	CDON	HP:0002418	Abnormal midbrain morphology	HP:0040282	ORPHA:280195
50937	CDON	HP:0003745	Sporadic	-	OMIM:614226
50937	CDON	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:280195
50937	CDON	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280200
50937	CDON	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93926
50937	CDON	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93924
50937	CDON	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93925
50937	CDON	HP:0001274	Agenesis of corpus callosum	-	OMIM:614226
50937	CDON	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220386
50937	CDON	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:280195
50937	CDON	HP:0001254	Lethargy	HP:0040282	ORPHA:93926
50937	CDON	HP:0001254	Lethargy	HP:0040283	ORPHA:93924
50937	CDON	HP:0001254	Lethargy	HP:0040282	ORPHA:93925
50937	CDON	HP:0001254	Lethargy	HP:0040282	ORPHA:220386
50937	CDON	HP:0001250	Seizure	HP:0040283	ORPHA:95496
50937	CDON	HP:0001250	Seizure	HP:0040282	ORPHA:220386
50937	CDON	HP:0001250	Seizure	HP:0040283	ORPHA:280200
50937	CDON	HP:0001250	Seizure	HP:0040282	ORPHA:93926
50937	CDON	HP:0001250	Seizure	HP:0040283	ORPHA:93924
50937	CDON	HP:0001250	Seizure	HP:0040282	ORPHA:93925
50937	CDON	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280195
50937	CDON	HP:0001249	Intellectual disability	HP:0040283	ORPHA:95496
50937	CDON	HP:0001249	Intellectual disability	HP:0040282	ORPHA:220386
50937	CDON	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280200
50937	CDON	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93926
50937	CDON	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93924
50937	CDON	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93925
50937	CDON	HP:0001263	Global developmental delay	HP:0040283	ORPHA:95496
50937	CDON	HP:0001263	Global developmental delay	-	OMIM:614226
50937	CDON	HP:0001257	Spasticity	HP:0040282	ORPHA:93926
50937	CDON	HP:0001257	Spasticity	HP:0040283	ORPHA:93924
50937	CDON	HP:0001257	Spasticity	HP:0040282	ORPHA:93925
50937	CDON	HP:0001257	Spasticity	HP:0040282	ORPHA:220386
50937	CDON	HP:0100842	Septo-optic dysplasia	HP:0040283	ORPHA:95496
50937	CDON	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:280200
50937	CDON	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:95496
50937	CDON	HP:0007375	Abnormal septum pellucidum morphology	HP:0040283	ORPHA:280195
50937	CDON	HP:0007330	Frontoethmoidal encephalocele	HP:0040283	ORPHA:280195
50937	CDON	HP:0002540	Inability to walk	HP:0040282	ORPHA:93926
50937	CDON	HP:0002540	Inability to walk	HP:0040284	ORPHA:93924
50937	CDON	HP:0002540	Inability to walk	HP:0040282	ORPHA:93925
50937	CDON	HP:0002540	Inability to walk	HP:0040282	ORPHA:220386
50937	CDON	HP:0003828	Variable expressivity	-	OMIM:614226
50937	CDON	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:280200
50937	CDON	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93926
50937	CDON	HP:0001371	Flexion contracture	HP:0040284	ORPHA:93924
50937	CDON	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93925
50937	CDON	HP:0001371	Flexion contracture	HP:0040283	ORPHA:220386
50937	CDON	HP:0001355	Megalencephaly	HP:0040283	ORPHA:280195
50937	CDON	HP:0001360	Holoprosencephaly	-	OMIM:614226
50937	CDON	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:280200
50937	CDON	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:95496
50937	CDON	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93926
50937	CDON	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93924
50937	CDON	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93925
50937	CDON	HP:0001328	Specific learning disability	HP:0040282	ORPHA:280195
50937	CDON	HP:0001328	Specific learning disability	HP:0040282	ORPHA:220386
50937	CDON	HP:0001344	Absent speech	HP:0040282	ORPHA:93926
50937	CDON	HP:0001344	Absent speech	HP:0040284	ORPHA:93924
50937	CDON	HP:0001344	Absent speech	HP:0040282	ORPHA:93925
50937	CDON	HP:0001344	Absent speech	HP:0040282	ORPHA:220386
50937	CDON	HP:0000006	Autosomal dominant inheritance	-	OMIM:614226
50937	CDON	HP:0002650	Scoliosis	HP:0040283	ORPHA:93926
50937	CDON	HP:0002650	Scoliosis	HP:0040283	ORPHA:93924
50937	CDON	HP:0002650	Scoliosis	HP:0040283	ORPHA:93925
50937	CDON	HP:0002650	Scoliosis	HP:0040283	ORPHA:220386
50937	CDON	HP:0002650	Scoliosis	HP:0040283	ORPHA:280200
50937	CDON	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93926
50937	CDON	HP:0000193	Bifid uvula	HP:0040283	ORPHA:93924
50937	CDON	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93925
50937	CDON	HP:0000193	Bifid uvula	HP:0040282	ORPHA:220386
50937	CDON	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:220386
50937	CDON	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93926
50937	CDON	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93924
50937	CDON	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93925
50937	CDON	HP:0000175	Cleft palate	HP:0040283	ORPHA:280200
50937	CDON	HP:0000175	Cleft palate	HP:0040282	ORPHA:93926
50937	CDON	HP:0000175	Cleft palate	HP:0040282	ORPHA:93924
50937	CDON	HP:0000175	Cleft palate	HP:0040282	ORPHA:93925
50937	CDON	HP:0000175	Cleft palate	-	OMIM:614226
50937	CDON	HP:0000175	Cleft palate	HP:0040282	ORPHA:220386
50937	CDON	HP:0410030	Cleft lip	-	OMIM:614226
50937	CDON	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:280200
50937	CDON	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:220386
50937	CDON	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93926
50937	CDON	HP:0006315	Solitary median maxillary central incisor	HP:0040284	ORPHA:93924
50937	CDON	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93925
50937	CDON	HP:0008947	Floppy infant	HP:0040282	ORPHA:93926
50937	CDON	HP:0008947	Floppy infant	HP:0040283	ORPHA:93924
50937	CDON	HP:0008947	Floppy infant	HP:0040282	ORPHA:93925
50937	CDON	HP:0008947	Floppy infant	HP:0040282	ORPHA:220386
50937	CDON	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93926
50937	CDON	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93924
50937	CDON	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93925
50937	CDON	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:220386
50937	CDON	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:280195
50937	CDON	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:220386
50937	CDON	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93926
50937	CDON	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93924
50937	CDON	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93925
50937	CDON	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:220386
50937	CDON	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93926
50937	CDON	HP:0002793	Abnormal pattern of respiration	HP:0040283	ORPHA:93924
50937	CDON	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93925
50937	CDON	HP:0000104	Renal agenesis	HP:0040283	ORPHA:280200
50937	CDON	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93926
50937	CDON	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93924
50937	CDON	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93925
50937	CDON	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220386
50937	CDON	HP:0002019	Constipation	HP:0040282	ORPHA:93926
50937	CDON	HP:0002019	Constipation	HP:0040282	ORPHA:93924
50937	CDON	HP:0002019	Constipation	HP:0040282	ORPHA:93925
50937	CDON	HP:0002019	Constipation	HP:0040282	ORPHA:220386
50937	CDON	HP:0002033	Poor suck	HP:0040281	ORPHA:93926
50937	CDON	HP:0002033	Poor suck	HP:0040282	ORPHA:93924
50937	CDON	HP:0002033	Poor suck	HP:0040281	ORPHA:93925
50937	CDON	HP:0002033	Poor suck	HP:0040281	ORPHA:220386
50937	CDON	HP:0002015	Dysphagia	HP:0040282	ORPHA:93926
50937	CDON	HP:0002015	Dysphagia	HP:0040283	ORPHA:93924
50937	CDON	HP:0002015	Dysphagia	HP:0040282	ORPHA:93925
50937	CDON	HP:0002015	Dysphagia	HP:0040283	ORPHA:280195
50937	CDON	HP:0002015	Dysphagia	HP:0040282	ORPHA:220386
50937	CDON	HP:0002013	Vomiting	HP:0040282	ORPHA:93926
50937	CDON	HP:0002013	Vomiting	HP:0040283	ORPHA:93924
50937	CDON	HP:0002013	Vomiting	HP:0040282	ORPHA:93925
50937	CDON	HP:0002013	Vomiting	HP:0040282	ORPHA:220386
50937	CDON	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:220386
50937	CDON	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93926
50937	CDON	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040283	ORPHA:93924
50937	CDON	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93925
50937	CDON	HP:0005968	Temperature instability	HP:0040282	ORPHA:220386
50937	CDON	HP:0005968	Temperature instability	HP:0040282	ORPHA:93926
50937	CDON	HP:0005968	Temperature instability	HP:0040283	ORPHA:93924
50937	CDON	HP:0005968	Temperature instability	HP:0040282	ORPHA:93925
50937	CDON	HP:0002099	Asthma	HP:0040283	ORPHA:280200
50937	CDON	HP:0011755	Ectopic posterior pituitary	HP:0040280	ORPHA:95496
50937	CDON	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:220386
50937	CDON	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93926
50937	CDON	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93924
50937	CDON	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93925
50937	CDON	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280195
50937	CDON	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:280200
50937	CDON	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:220386
50937	CDON	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93926
50937	CDON	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93924
50937	CDON	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93925
50937	CDON	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93926
50937	CDON	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:93924
50937	CDON	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93925
50937	CDON	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:220386
50937	CDON	HP:0100710	Impulsivity	HP:0040282	ORPHA:280195
50937	CDON	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:280200
50937	CDON	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:220386
50937	CDON	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93926
50937	CDON	HP:0010654	Aplasia of the falx cerebri	HP:0040283	ORPHA:93924
50937	CDON	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93925
50937	CDON	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93926
50937	CDON	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93924
50937	CDON	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93925
50937	CDON	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:220386
50937	CDON	HP:0010644	Midnasal stenosis	HP:0040281	ORPHA:280200
50937	CDON	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93926
50937	CDON	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93924
50937	CDON	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93925
50937	CDON	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:220386
50937	CDON	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:220386
50937	CDON	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93926
50937	CDON	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93924
50937	CDON	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93925
50937	CDON	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:220386
50937	CDON	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93926
50937	CDON	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:93924
50937	CDON	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93925
50937	CDON	HP:0001028	Hemangioma	HP:0040283	ORPHA:280200
50937	CDON	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:280200
50937	CDON	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:280200
50937	CDON	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:220386
50937	CDON	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93926
50937	CDON	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93924
50937	CDON	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93925
50937	CDON	HP:0000612	Iris coloboma	HP:0040283	ORPHA:280200
50937	CDON	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:95496
50937	CDON	HP:0000601	Hypotelorism	HP:0040282	ORPHA:280200
50937	CDON	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93926
50937	CDON	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93924
50937	CDON	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93925
50937	CDON	HP:0000601	Hypotelorism	-	OMIM:614226
50937	CDON	HP:0000601	Hypotelorism	HP:0040281	ORPHA:220386
50937	CDON	HP:0012650	Perisylvian polymicrogyria	HP:0040283	ORPHA:280195
50937	CDON	HP:0000664	Synophrys	-	OMIM:614226
50937	CDON	HP:0004322	Short stature	HP:0040281	ORPHA:95496
50937	CDON	HP:0004322	Short stature	HP:0040281	ORPHA:220386
50937	CDON	HP:0004322	Short stature	HP:0040282	ORPHA:280200
50937	CDON	HP:0004322	Short stature	HP:0040281	ORPHA:93926
50937	CDON	HP:0004322	Short stature	HP:0040282	ORPHA:93924
50937	CDON	HP:0004322	Short stature	HP:0040281	ORPHA:93925
50937	CDON	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:220386
50937	CDON	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93926
50937	CDON	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93924
50937	CDON	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93925
50937	CDON	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:280200
50937	CDON	HP:0031913	Rhombencephalosynapsis	HP:0040283	ORPHA:280195
50937	CDON	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:280195
50937	CDON	HP:0000737	Irritability	HP:0040282	ORPHA:93926
50937	CDON	HP:0000737	Irritability	HP:0040282	ORPHA:93924
50937	CDON	HP:0000737	Irritability	HP:0040282	ORPHA:93925
50937	CDON	HP:0000737	Irritability	HP:0040282	ORPHA:220386
50937	CDON	HP:0000739	Anxiety	HP:0040282	ORPHA:93926
50937	CDON	HP:0000739	Anxiety	HP:0040282	ORPHA:93924
50937	CDON	HP:0000739	Anxiety	HP:0040282	ORPHA:93925
50937	CDON	HP:0000739	Anxiety	HP:0040282	ORPHA:220386
50937	CDON	HP:0000736	Short attention span	HP:0040282	ORPHA:280195
50937	CDON	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:220386
50937	CDON	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93926
50937	CDON	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93924
50937	CDON	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93925
50937	CDON	HP:0000741	Apathy	HP:0040282	ORPHA:220386
50937	CDON	HP:0000741	Apathy	HP:0040282	ORPHA:93926
50937	CDON	HP:0000741	Apathy	HP:0040283	ORPHA:93924
50937	CDON	HP:0000741	Apathy	HP:0040282	ORPHA:93925
50937	CDON	HP:0000716	Depression	HP:0040282	ORPHA:93926
50937	CDON	HP:0000716	Depression	HP:0040282	ORPHA:93924
50937	CDON	HP:0000716	Depression	HP:0040282	ORPHA:93925
50937	CDON	HP:0000716	Depression	HP:0040282	ORPHA:220386
50937	CDON	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93926
50937	CDON	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93924
50937	CDON	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93925
50937	CDON	HP:0000708	Atypical behavior	HP:0040282	ORPHA:220386
50937	CDON	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:280195
50937	CDON	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:220386
50937	CDON	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93926
50937	CDON	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93924
50937	CDON	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93925
50937	CDON	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:220386
50937	CDON	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93926
50937	CDON	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93924
50937	CDON	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93925
50937	CDON	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:95496
50937	CDON	HP:0003196	Short nose	HP:0040283	ORPHA:280200
50937	CDON	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93926
50937	CDON	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93924
50937	CDON	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93925
50937	CDON	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:220386
50937	CDON	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:95496
50937	CDON	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:220386
50937	CDON	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93926
50937	CDON	HP:0000873	Diabetes insipidus	HP:0040282	ORPHA:93924
50937	CDON	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93925
50937	CDON	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:280200
50937	CDON	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:220386
50937	CDON	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93926
50937	CDON	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93924
50937	CDON	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93925
50937	CDON	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040281	ORPHA:95496
50937	CDON	HP:0000863	Central diabetes insipidus	HP:0040282	ORPHA:280195
50937	CDON	HP:0000835	Adrenal hypoplasia	HP:0040283	ORPHA:95496
50937	CDON	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:280195
50937	CDON	HP:0012806	Proboscis	HP:0040283	ORPHA:220386
50937	CDON	HP:0012806	Proboscis	HP:0040283	ORPHA:93926
50937	CDON	HP:0012806	Proboscis	HP:0040284	ORPHA:93924
50937	CDON	HP:0012806	Proboscis	HP:0040283	ORPHA:93925
50937	CDON	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:220386
50937	CDON	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93926
50937	CDON	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:93924
50937	CDON	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93925
50937	CDON	HP:0000826	Precocious puberty	HP:0040282	ORPHA:280195
50937	CDON	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:280200
50937	CDON	HP:0000821	Hypothyroidism	HP:0040282	ORPHA:95496
50937	CDON	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93926
50937	CDON	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93924
50937	CDON	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93925
50937	CDON	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:220386
50937	CDON	HP:0000823	Delayed puberty	HP:0040282	ORPHA:95496
50937	CDON	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:220386
50937	CDON	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93926
50937	CDON	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93924
50937	CDON	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93925
50937	CDON	HP:0045005	Neural tube defect	HP:0040282	ORPHA:220386
50937	CDON	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93926
50937	CDON	HP:0045005	Neural tube defect	HP:0040284	ORPHA:93924
50937	CDON	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93925
50937	CDON	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:220386
50937	CDON	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93926
50937	CDON	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93924
50937	CDON	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93925
50937	CDON	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93926
50937	CDON	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93924
50937	CDON	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93925
50937	CDON	HP:0000256	Macrocephaly	HP:0040283	ORPHA:220386
50937	CDON	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93926
50937	CDON	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93924
50937	CDON	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93925
50937	CDON	HP:0002827	Hip dislocation	HP:0040283	ORPHA:220386
50937	CDON	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93926
50937	CDON	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93924
50937	CDON	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93925
50937	CDON	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220386
50937	CDON	HP:0000252	Microcephaly	HP:0040283	ORPHA:280195
50937	CDON	HP:0000252	Microcephaly	HP:0040282	ORPHA:220386
50937	CDON	HP:0000252	Microcephaly	HP:0040282	ORPHA:280200
50937	CDON	HP:0000252	Microcephaly	-	OMIM:614226
50937	CDON	HP:0000252	Microcephaly	HP:0040282	ORPHA:93926
50937	CDON	HP:0000252	Microcephaly	HP:0040283	ORPHA:93924
50937	CDON	HP:0000252	Microcephaly	HP:0040282	ORPHA:93925
50937	CDON	HP:0000218	High palate	HP:0040282	ORPHA:93926
50937	CDON	HP:0000218	High palate	HP:0040282	ORPHA:93924
50937	CDON	HP:0000218	High palate	HP:0040282	ORPHA:93925
50937	CDON	HP:0000218	High palate	HP:0040282	ORPHA:220386
50937	CDON	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:280195
50937	CDON	HP:0001522	Death in infancy	HP:0040283	ORPHA:95496
50937	CDON	HP:0002871	Central apnea	HP:0040282	ORPHA:220386
50937	CDON	HP:0002871	Central apnea	HP:0040282	ORPHA:93926
50937	CDON	HP:0002871	Central apnea	HP:0040283	ORPHA:93924
50937	CDON	HP:0002871	Central apnea	HP:0040282	ORPHA:93925
50937	CDON	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:280200
50937	CDON	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93926
50937	CDON	HP:0001508	Failure to thrive	HP:0040282	ORPHA:93924
50937	CDON	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93925
50937	CDON	HP:0001508	Failure to thrive	HP:0040281	ORPHA:95496
50937	CDON	HP:0001508	Failure to thrive	HP:0040281	ORPHA:220386
50937	CDON	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:280200
50937	CDON	HP:0001510	Growth delay	HP:0040281	ORPHA:93926
50937	CDON	HP:0001510	Growth delay	HP:0040282	ORPHA:93924
50937	CDON	HP:0001510	Growth delay	HP:0040281	ORPHA:93925
50937	CDON	HP:0001510	Growth delay	HP:0040281	ORPHA:220386
50937	CDON	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:220386
50937	CDON	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93926
50937	CDON	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93924
50937	CDON	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93925
50937	CDON	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:280195
50937	CDON	HP:0000322	Short philtrum	HP:0040282	ORPHA:280200
50937	CDON	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93926
50937	CDON	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93924
50937	CDON	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93925
50937	CDON	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:220386
50937	CDON	HP:0001622	Premature birth	HP:0040282	ORPHA:280200
50937	CDON	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:280200
50937	CDON	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93926
50937	CDON	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93924
50937	CDON	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93925
50937	CDON	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:220386
50937	CDON	HP:0000486	Strabismus	HP:0040283	ORPHA:280200
50937	CDON	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93926
50937	CDON	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:93924
50937	CDON	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93925
50937	CDON	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:220386
50937	CDON	HP:0000463	Anteverted nares	HP:0040283	ORPHA:280200
50937	CDON	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93926
50937	CDON	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93924
50937	CDON	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93925
50937	CDON	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:220386
50937	CDON	HP:0000453	Choanal atresia	HP:0040281	ORPHA:280200
50937	CDON	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:280200
50937	CDON	HP:0001748	Polysplenia	-	OMIM:614226
50937	CDON	HP:0000520	Proptosis	-	OMIM:614226
50937	CDON	HP:0000574	Thick eyebrow	-	OMIM:614226
50939	IMPG2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
50939	IMPG2	HP:0001139	Choroideremia	HP:0040282	ORPHA:99000
50939	IMPG2	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
50939	IMPG2	HP:0001123	Visual field defect	8/8	OMIM:613581
50939	IMPG2	HP:0001123	Visual field defect	HP:0040282	ORPHA:99000
50939	IMPG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
50939	IMPG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613581
50939	IMPG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
50939	IMPG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616152
50939	IMPG2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
50939	IMPG2	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
50939	IMPG2	HP:0007677	Vitelliform-like macular lesions	HP:0040281	ORPHA:99000
50939	IMPG2	HP:0007677	Vitelliform-like macular lesions	1/2	OMIM:616152
50939	IMPG2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
50939	IMPG2	HP:0007663	Reduced visual acuity	8/8	OMIM:616152
50939	IMPG2	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
50939	IMPG2	HP:0007663	Reduced visual acuity	11/11	OMIM:613581
50939	IMPG2	HP:0003596	Middle age onset	5/8	OMIM:616152
50939	IMPG2	HP:0003584	Late onset	2/8	OMIM:616152
50939	IMPG2	HP:0003621	Juvenile onset	8/19	OMIM:180100
50939	IMPG2	HP:0003621	Juvenile onset	3/6	OMIM:613581
50939	IMPG2	HP:0030515	Moderately reduced visual acuity	1/2	OMIM:616152
50939	IMPG2	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
50939	IMPG2	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
50939	IMPG2	HP:0000618	Blindness	HP:0040281	ORPHA:791
50939	IMPG2	HP:0000613	Photophobia	HP:0040281	ORPHA:791
50939	IMPG2	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
50939	IMPG2	HP:0000603	Central scotoma	-	OMIM:616152
50939	IMPG2	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
50939	IMPG2	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
50939	IMPG2	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
50939	IMPG2	HP:0000662	Nyctalopia	-	OMIM:613581
50939	IMPG2	HP:0000662	Nyctalopia	26/28	OMIM:180100
50939	IMPG2	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
50939	IMPG2	HP:0100018	Nuclear cataract	1/12	OMIM:613581
50939	IMPG2	HP:0011463	Childhood onset	3/19	OMIM:180100
50939	IMPG2	HP:0011463	Childhood onset	3/6	OMIM:613581
50939	IMPG2	HP:0011462	Young adult onset	8/19	OMIM:180100
50939	IMPG2	HP:0011462	Young adult onset	1/8	OMIM:616152
50939	IMPG2	HP:0030786	Photopsia	HP:0040283	ORPHA:791
50939	IMPG2	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
50939	IMPG2	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
50939	IMPG2	HP:0030856	Posterior staphyloma	1/12	OMIM:613581
50939	IMPG2	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
50939	IMPG2	HP:0007722	Retinal pigment epithelial atrophy	10/12	OMIM:613581
50939	IMPG2	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
50939	IMPG2	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
50939	IMPG2	HP:0007787	Posterior subcapsular cataract	4/12	OMIM:613581
50939	IMPG2	HP:0007754	Macular dystrophy	1/2	OMIM:616152
50939	IMPG2	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
50939	IMPG2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
50939	IMPG2	HP:0007737	Bone spicule pigmentation of the retina	11/12	OMIM:613581
50939	IMPG2	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:99000
50939	IMPG2	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
50939	IMPG2	HP:0007843	Attenuation of retinal blood vessels	11/12	OMIM:613581
50939	IMPG2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
50939	IMPG2	HP:0007899	Retinal nonattachment	HP:0040283	ORPHA:99000
50939	IMPG2	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
50939	IMPG2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
50939	IMPG2	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
50939	IMPG2	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:99000
50939	IMPG2	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
50939	IMPG2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
50939	IMPG2	HP:0000510	Rod-cone dystrophy	-	OMIM:613581
50939	IMPG2	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
50939	IMPG2	HP:0000505	Visual impairment	HP:0040281	ORPHA:99000
50939	IMPG2	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
50939	IMPG2	HP:0000504	Abnormality of vision	HP:0040281	ORPHA:99000
50939	IMPG2	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
50939	IMPG2	HP:0000580	Pigmentary retinopathy	-	OMIM:613581
50939	IMPG2	HP:0000575	Scotoma	5/18	OMIM:180100
50939	IMPG2	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
50939	IMPG2	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
50939	IMPG2	HP:0000551	Color vision defect	HP:0040282	ORPHA:99000
50939	IMPG2	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
50939	IMPG2	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
50939	IMPG2	HP:0000543	Optic disc pallor	11/12	OMIM:613581
50939	IMPG2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
50939	IMPG2	HP:0000545	Myopia	-	OMIM:180100
50940	PDE11A	HP:0001297	Stroke	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0100814	Blue nevus	HP:0040282	ORPHA:1359
50940	PDE11A	HP:0001268	Mental deterioration	-	OMIM:610475
50940	PDE11A	HP:0025274	Ovarian dermoid cyst	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0025383	Dorsocervical fat pad	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0000098	Tall stature	HP:0040284	ORPHA:1359
50940	PDE11A	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0000053	Macroorchidism	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0025318	Ovarian carcinoma	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0007565	Multiple cafe-au-lait spots	HP:0040282	ORPHA:1359
50940	PDE11A	HP:0001324	Muscle weakness	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0000006	Autosomal dominant inheritance	-	OMIM:610475
50940	PDE11A	HP:0000199	Tongue nodules	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0025451	Testicular adrenal rest tumor	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0000138	Ovarian cyst	1/4	OMIM:610475
50940	PDE11A	HP:0000138	Ovarian cyst	HP:0040282	ORPHA:1359
50940	PDE11A	HP:0500011	Moon facies	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0001402	Hepatocellular carcinoma	HP:0040284	ORPHA:1359
50940	PDE11A	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040282	ORPHA:1359
50940	PDE11A	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	-	OMIM:610475
50940	PDE11A	HP:0100737	Abnormal hard palate morphology	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0100751	Esophageal neoplasm	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0100743	Neoplasm of the rectum	HP:0040284	ORPHA:1359
50940	PDE11A	HP:0010619	Fibroadenoma of the breast	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0001065	Striae distensae	-	OMIM:610475
50940	PDE11A	HP:0001065	Striae distensae	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0001007	Hirsutism	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0001003	Multiple lentigines	HP:0040282	ORPHA:1359
50940	PDE11A	HP:0100619	Sertoli cell neoplasm	HP:0040282	ORPHA:1359
50940	PDE11A	HP:0100618	Leydig cell neoplasia	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0001074	Atypical nevi in non-sun exposed areas	HP:0040282	ORPHA:1359
50940	PDE11A	HP:0100638	Neoplasm of the pharynx	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0010785	Gonadal neoplasm	HP:0040282	ORPHA:1359
50940	PDE11A	HP:0010788	Testicular neoplasm	HP:0040282	ORPHA:1359
50940	PDE11A	HP:0010732	Nodular changes affecting the eyelids	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0003621	Juvenile onset	1/4	OMIM:610475
50940	PDE11A	HP:0004944	Dilatation of the cerebral artery	HP:0040284	ORPHA:1359
50940	PDE11A	HP:0005585	Spotty hyperpigmentation	HP:0040282	ORPHA:1359
50940	PDE11A	HP:0001956	Truncal obesity	-	OMIM:610475
50940	PDE11A	HP:0001907	Thromboembolism	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0004324	Increased body weight	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0100013	Neoplasm of the breast	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0012743	Abdominal obesity	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0100008	Schwannoma	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0000771	Gynecomastia	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0000739	Anxiety	-	OMIM:610475
50940	PDE11A	HP:0000716	Depression	-	OMIM:610475
50940	PDE11A	HP:0000712	Emotional lability	-	OMIM:610475
50940	PDE11A	HP:0000713	Agitation	-	OMIM:610475
50940	PDE11A	HP:0000709	Psychosis	-	OMIM:610475
50940	PDE11A	HP:0000708	Atypical behavior	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0011462	Young adult onset	3/4	OMIM:610475
50940	PDE11A	HP:0000798	Oligozoospermia	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0003118	Increased circulating cortisol level	3/4	OMIM:610475
50940	PDE11A	HP:0003118	Increased circulating cortisol level	HP:0040282	ORPHA:1359
50940	PDE11A	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:1359
50940	PDE11A	HP:0000866	Euthyroid multinodular goiter	HP:0040282	ORPHA:1359
50940	PDE11A	HP:0000845	Elevated circulating growth hormone concentration	HP:0040282	ORPHA:1359
50940	PDE11A	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1359
50940	PDE11A	HP:0000822	Hypertension	-	OMIM:610475
50940	PDE11A	HP:0000822	Hypertension	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0012887	Ovarian serous cystadenoma	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0000978	Bruising susceptibility	-	OMIM:610475
50940	PDE11A	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0000963	Thin skin	-	OMIM:610475
50940	PDE11A	HP:0000939	Osteoporosis	-	OMIM:610475
50940	PDE11A	HP:0000938	Osteopenia	-	OMIM:610475
50940	PDE11A	HP:0011672	Cardiac myxoma	HP:0040282	ORPHA:1359
50940	PDE11A	HP:0030075	Ductal carcinoma in situ	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0030072	Paranasal sinus neoplasm	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0002808	Kyphosis	-	OMIM:610475
50940	PDE11A	HP:0001580	Pigmented micronodular adrenocortical disease	4/4	OMIM:610475
50940	PDE11A	HP:0001580	Pigmented micronodular adrenocortical disease	HP:0040281	ORPHA:1359
50940	PDE11A	HP:0001579	Primary hypercortisolism	-	OMIM:610475
50940	PDE11A	HP:0012206	Abnormal sperm motility	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0002894	Neoplasm of the pancreas	HP:0040284	ORPHA:1359
50940	PDE11A	HP:0002895	Papillary thyroid carcinoma	HP:0040284	ORPHA:1359
50940	PDE11A	HP:0002890	Thyroid carcinoma	HP:0040284	ORPHA:1359
50940	PDE11A	HP:0030038	Enchondroma	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0001507	Growth abnormality	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0002920	Decreased circulating ACTH concentration	-	OMIM:610475
50940	PDE11A	HP:0000311	Round face	-	OMIM:610475
50940	PDE11A	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0001733	Pancreatitis	1/4	OMIM:610475
50940	PDE11A	HP:0030269	Increased circulating insulin-like growth factor 1 concentration	HP:0040282	ORPHA:1359
50940	PDE11A	HP:0006753	Neoplasm of the stomach	HP:0040283	ORPHA:1359
50940	PDE11A	HP:0006731	Follicular thyroid carcinoma	HP:0040284	ORPHA:1359
50940	PDE11A	HP:0030428	Cutaneous myxoma	HP:0040282	ORPHA:1359
50943	FOXP3	HP:0003765	Psoriasiform dermatitis	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0025156	Dependency on intravenous nutrition	HP:0040284	ORPHA:37042
50943	FOXP3	HP:0100806	Sepsis	HP:0040284	ORPHA:37042
50943	FOXP3	HP:0001287	Meningitis	HP:0040284	ORPHA:37042
50943	FOXP3	HP:0001250	Seizure	12/88	OMIM:304790
50943	FOXP3	HP:0002583	Colitis	HP:0040284	ORPHA:37042
50943	FOXP3	HP:0002595	Ileus	HP:0040284	ORPHA:37042
50943	FOXP3	HP:0002595	Ileus	-	OMIM:304790
50943	FOXP3	HP:0001263	Global developmental delay	12/88	OMIM:304790
50943	FOXP3	HP:0031085	Decreased circulating prealbumin concentration	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0000099	Glomerulonephritis	3/28	OMIM:304790
50943	FOXP3	HP:0025379	Anti-thyroid peroxidase antibody positivity	HP:0040282	ORPHA:37042
50943	FOXP3	HP:0001369	Arthritis	8/88	OMIM:304790
50943	FOXP3	HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	9/28	OMIM:304790
50943	FOXP3	HP:0007473	Crusting erythematous dermatitis	HP:0040282	ORPHA:37042
50943	FOXP3	HP:0031104	Insulin receptor antibody positivity	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0031123	Recurrent gastroenteritis	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0012115	Hepatitis	4/28	OMIM:304790
50943	FOXP3	HP:0012115	Hepatitis	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0500093	Food allergy	42/116	OMIM:304790
50943	FOXP3	HP:0000100	Nephrotic syndrome	HP:0040284	ORPHA:37042
50943	FOXP3	HP:0002754	Osteomyelitis	HP:0040284	ORPHA:37042
50943	FOXP3	HP:0001419	X-linked recessive inheritance	-	OMIM:304790
50943	FOXP3	HP:0002719	Recurrent infections	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0002716	Lymphadenopathy	HP:0040284	ORPHA:37042
50943	FOXP3	HP:0002716	Lymphadenopathy	12/88	OMIM:304790
50943	FOXP3	HP:0002024	Malabsorption	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0002028	Chronic diarrhea	28/28	OMIM:304790
50943	FOXP3	HP:0002013	Vomiting	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0030909	Anti-liver cytosolic antigen type 1 antibody positivity	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0002098	Respiratory distress	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0002090	Pneumonia	HP:0040284	ORPHA:37042
50943	FOXP3	HP:0040288	Nasogastric tube feeding	HP:0040284	ORPHA:37042
50943	FOXP3	HP:0002119	Ventriculomegaly	3/88	OMIM:304790
50943	FOXP3	HP:0003593	Infantile onset	-	OMIM:304790
50943	FOXP3	HP:0002242	Abnormal intestine morphology	HP:0040282	ORPHA:37042
50943	FOXP3	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0004844	Coombs-positive hemolytic anemia	4/28	OMIM:304790
50943	FOXP3	HP:0001025	Urticaria	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0001019	Erythroderma	9/116	OMIM:304790
50943	FOXP3	HP:6000473	Decreased FOXP3-expressing T cell count	-	OMIM:304790
50943	FOXP3	HP:0100651	Type I diabetes mellitus	7/28	OMIM:304790
50943	FOXP3	HP:0100651	Type I diabetes mellitus	HP:0040282	ORPHA:37042
50943	FOXP3	HP:0100646	Thyroiditis	HP:0040282	ORPHA:37042
50943	FOXP3	HP:0100614	Myositis	HP:0040284	ORPHA:37042
50943	FOXP3	HP:0032169	Severe infection	41/88	OMIM:304790
50943	FOXP3	HP:0001970	Tubulointerstitial nephritis	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0001973	Autoimmune thrombocytopenia	2/28	OMIM:304790
50943	FOXP3	HP:0001973	Autoimmune thrombocytopenia	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0001904	Autoimmune neutropenia	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0001903	Anemia	29/88	OMIM:304790
50943	FOXP3	HP:0004326	Cachexia	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0011473	Villous atrophy	40/88	OMIM:304790
50943	FOXP3	HP:0003111	Abnormal blood ion concentration	HP:0040282	ORPHA:37042
50943	FOXP3	HP:0000836	Hyperthyroidism	HP:0040284	ORPHA:37042
50943	FOXP3	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:37042
50943	FOXP3	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0000821	Hypothyroidism	2/28	OMIM:304790
50943	FOXP3	HP:0003212	Increased circulating IgE concentration	102/111	OMIM:304790
50943	FOXP3	HP:0003212	Increased circulating IgE concentration	HP:0040282	ORPHA:37042
50943	FOXP3	HP:0000964	Eczematoid dermatitis	97/116	OMIM:304790
50943	FOXP3	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:37042
50943	FOXP3	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0001596	Alopecia	HP:0040284	ORPHA:37042
50943	FOXP3	HP:0001596	Alopecia	10/88	OMIM:304790
50943	FOXP3	HP:0031401	Decreased double-negative T cell proportion	HP:0040282	ORPHA:37042
50943	FOXP3	HP:0001581	Recurrent skin infections	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:37042
50943	FOXP3	HP:0001508	Failure to thrive	66/88	OMIM:304790
50943	FOXP3	HP:0012393	Allergy	HP:0040282	ORPHA:37042
50943	FOXP3	HP:0005263	Gastritis	HP:0040284	ORPHA:37042
50943	FOXP3	HP:0005208	Secretory diarrhea	HP:0040282	ORPHA:37042
50943	FOXP3	HP:0006515	Interstitial pneumonitis	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0002917	Hypomagnesemia	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0002960	Autoimmunity	HP:0040281	ORPHA:37042
50943	FOXP3	HP:0002958	Immune dysregulation	-	OMIM:304790
50943	FOXP3	HP:0011123	Inflammatory abnormality of the skin	HP:0040282	ORPHA:37042
50943	FOXP3	HP:0001744	Splenomegaly	HP:0040284	ORPHA:37042
50943	FOXP3	HP:0012578	Membranous nephropathy	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0001891	Iron deficiency anemia	HP:0040282	ORPHA:37042
50943	FOXP3	HP:0001890	Autoimmune hemolytic anemia	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0001880	Increased total eosinophil count	-	OMIM:304790
50943	FOXP3	HP:0001873	Thrombocytopenia	19/88	OMIM:304790
50943	FOXP3	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:37042
50943	FOXP3	HP:0001875	Decreased total neutrophil count	11/88	OMIM:304790
50945	TBX22	HP:0001156	Brachydactyly	HP:0040283	ORPHA:921
50945	TBX22	HP:0008743	Coronal hypospadias	HP:0040281	ORPHA:921
50945	TBX22	HP:0000047	Hypospadias	-	OMIM:302905
50945	TBX22	HP:0000047	Hypospadias	HP:0040281	ORPHA:921
50945	TBX22	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:921
50945	TBX22	HP:0000193	Bifid uvula	-	OMIM:303400
50945	TBX22	HP:0000175	Cleft palate	-	OMIM:302905
50945	TBX22	HP:0000175	Cleft palate	HP:0040281	ORPHA:921
50945	TBX22	HP:0000175	Cleft palate	-	OMIM:303400
50945	TBX22	HP:0000174	Abnormal palate morphology	HP:0040282	ORPHA:921
50945	TBX22	HP:0001417	X-linked inheritance	-	OMIM:302905
50945	TBX22	HP:0001417	X-linked inheritance	-	OMIM:303400
50945	TBX22	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:921
50945	TBX22	HP:0009465	Ulnar deviation of finger	HP:0040282	ORPHA:921
50945	TBX22	HP:0010751	Dimple chin	HP:0040283	ORPHA:921
50945	TBX22	HP:0000612	Iris coloboma	HP:0040282	ORPHA:921
50945	TBX22	HP:0004322	Short stature	-	OMIM:302905
50945	TBX22	HP:0004322	Short stature	HP:0040282	ORPHA:921
50945	TBX22	HP:0010296	Ankyloglossia	-	OMIM:303400
50945	TBX22	HP:0000286	Epicanthus	HP:0040283	ORPHA:921
50945	TBX22	HP:0000272	Malar flattening	HP:0040281	ORPHA:921
50945	TBX22	HP:0012368	Flat face	HP:0040281	ORPHA:921
50945	TBX22	HP:0000365	Hearing impairment	-	OMIM:302905
50945	TBX22	HP:0002974	Radioulnar synostosis	-	OMIM:302905
50945	TBX22	HP:0002974	Radioulnar synostosis	HP:0040282	ORPHA:921
50945	TBX22	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:921
50945	TBX22	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:921
50945	TBX22	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:921
50945	TBX22	HP:0000400	Macrotia	HP:0040281	ORPHA:921
50945	TBX22	HP:0000400	Macrotia	-	OMIM:302905
50945	TBX22	HP:0000482	Microcornea	HP:0040283	ORPHA:921
50945	TBX22	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:921
50945	TBX22	HP:0000411	Protruding ear	-	OMIM:302905
50945	TBX22	HP:0001831	Short toe	HP:0040283	ORPHA:921
50945	TBX22	HP:0000589	Coloboma	-	OMIM:302905
50945	TBX22	HP:0000589	Coloboma	HP:0040282	ORPHA:921
50945	TBX22	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:921
50964	SOST	HP:0001159	Syndactyly	1/1	OMIM:269500
50964	SOST	HP:0001133	Constriction of peripheral visual field	-	OMIM:269500
50964	SOST	HP:0007285	Facial palsy secondary to cranial hyperostosis	-	OMIM:269500
50964	SOST	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
50964	SOST	HP:0001293	Cranial nerve compression	-	OMIM:131300
50964	SOST	HP:0001252	Hypotonia	2/7	OMIM:615777
50964	SOST	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1513
50964	SOST	HP:0001249	Intellectual disability	5/7	OMIM:615777
50964	SOST	HP:0001263	Global developmental delay	-	OMIM:615777
50964	SOST	HP:0001233	2-3 finger cutaneous syndactyly	-	OMIM:269500
50964	SOST	HP:0001233	2-3 finger cutaneous syndactyly	HP:0040281	ORPHA:3152
50964	SOST	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:3152
50964	SOST	HP:0002515	Waddling gait	54/102	OMIM:131300
50964	SOST	HP:0002516	Increased intracranial pressure	-	OMIM:269500
50964	SOST	HP:0002516	Increased intracranial pressure	-	OMIM:122860
50964	SOST	HP:0000098	Tall stature	HP:0040281	ORPHA:3152
50964	SOST	HP:6000749	Elevated circulating type I procollagen aminoterminal propeptide concentration	-	OMIM:239100
50964	SOST	HP:0001382	Joint hypermobility	-	OMIM:615777
50964	SOST	HP:0001349	Facial diplegia	-	OMIM:122860
50964	SOST	HP:0002694	Sclerosis of skull base	-	OMIM:131300
50964	SOST	HP:0002690	Large sella turcica	1/1	OMIM:269500
50964	SOST	HP:0008897	Postnatal growth retardation	-	OMIM:615777
50964	SOST	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
50964	SOST	HP:0001324	Muscle weakness	40/96	OMIM:131300
50964	SOST	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
50964	SOST	HP:0000007	Autosomal recessive inheritance	-	OMIM:239100
50964	SOST	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
50964	SOST	HP:0000007	Autosomal recessive inheritance	-	OMIM:269500
50964	SOST	HP:0000006	Autosomal dominant inheritance	-	OMIM:122860
50964	SOST	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
50964	SOST	HP:0002650	Scoliosis	12/14	OMIM:131300
50964	SOST	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
50964	SOST	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:269500
50964	SOST	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
50964	SOST	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
50964	SOST	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
50964	SOST	HP:0000175	Cleft palate	2/7	OMIM:615777
50964	SOST	HP:0001474	Sclerotic scapulae	-	OMIM:269500
50964	SOST	HP:0005019	Diaphyseal undertubulation	HP:0040281	ORPHA:3152
50964	SOST	HP:0005019	Diaphyseal undertubulation	HP:0040281	ORPHA:3416
50964	SOST	HP:0005019	Diaphyseal undertubulation	HP:0040281	ORPHA:1513
50964	SOST	HP:0002007	Frontal bossing	HP:0040281	ORPHA:1513
50964	SOST	HP:0002007	Frontal bossing	1/1	OMIM:269500
50964	SOST	HP:0011800	Midface retrusion	-	OMIM:269500
50964	SOST	HP:0100543	Cognitive impairment	-	OMIM:269500
50964	SOST	HP:0003388	Easy fatigability	36/76	OMIM:131300
50964	SOST	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
50964	SOST	HP:0002164	Nail dysplasia	1/1	OMIM:269500
50964	SOST	HP:0003593	Infantile onset	11/11	OMIM:122860
50964	SOST	HP:0100798	Fingernail dysplasia	HP:0040281	ORPHA:3152
50964	SOST	HP:0100729	Large face	1/1	OMIM:269500
50964	SOST	HP:0010628	Facial palsy	-	OMIM:269500
50964	SOST	HP:0010628	Facial palsy	HP:0040282	ORPHA:3416
50964	SOST	HP:0010628	Facial palsy	HP:0040282	ORPHA:3152
50964	SOST	HP:0003510	Severe short stature	7/7	OMIM:615777
50964	SOST	HP:0003676	Progressive	-	OMIM:122860
50964	SOST	HP:0002315	Headache	1/1	OMIM:269500
50964	SOST	HP:0002315	Headache	-	OMIM:131300
50964	SOST	HP:0002315	Headache	-	OMIM:239100
50964	SOST	HP:0002315	Headache	1/1	OMIM:122860
50964	SOST	HP:0004976	Knee dislocation	6/7	OMIM:615777
50964	SOST	HP:0009838	Curved distal phalanges of the hand	HP:0040281	ORPHA:3152
50964	SOST	HP:0009803	Short phalanx of finger	-	OMIM:615777
50964	SOST	HP:0001085	Papilledema	1/1	OMIM:269500
50964	SOST	HP:0001085	Papilledema	1/1	OMIM:122860
50964	SOST	HP:0009763	Limb pain	63/92	OMIM:131300
50964	SOST	HP:0003621	Juvenile onset	-	OMIM:131300
50964	SOST	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
50964	SOST	HP:0006824	Cranial nerve paralysis	-	OMIM:239100
50964	SOST	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
50964	SOST	HP:0000639	Nystagmus	-	OMIM:269500
50964	SOST	HP:6001056	Out-toeing	-	OMIM:131300
50964	SOST	HP:0000651	Diplopia	-	OMIM:131300
50964	SOST	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1513
50964	SOST	HP:0000648	Optic atrophy	-	OMIM:122860
50964	SOST	HP:0000648	Optic atrophy	HP:0040283	ORPHA:3152
50964	SOST	HP:0000648	Optic atrophy	1/1	OMIM:269500
50964	SOST	HP:0001956	Truncal obesity	2/7	OMIM:615777
50964	SOST	HP:0000622	Blurred vision	1/1	OMIM:269500
50964	SOST	HP:0001903	Anemia	HP:0040283	OMIM:131300
50964	SOST	HP:0010049	Short metacarpal	-	OMIM:615777
50964	SOST	HP:0000678	Dental crowding	-	OMIM:615777
50964	SOST	HP:0000692	Tooth malposition	1/1	OMIM:269500
50964	SOST	HP:0000689	Dental malocclusion	-	OMIM:269500
50964	SOST	HP:0000670	Carious teeth	-	OMIM:131300
50964	SOST	HP:0011304	Broad thumb	2/7	OMIM:615777
50964	SOST	HP:0000668	Hypodontia	-	OMIM:615777
50964	SOST	HP:0000664	Synophrys	-	OMIM:615777
50964	SOST	HP:0004322	Short stature	-	OMIM:122860
50964	SOST	HP:0004322	Short stature	HP:0040281	ORPHA:1513
50964	SOST	HP:0005652	Cortical sclerosis	1/1	OMIM:122860
50964	SOST	HP:0004396	Poor appetite	-	OMIM:131300
50964	SOST	HP:0003034	Diaphyseal sclerosis	-	OMIM:122860
50964	SOST	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
50964	SOST	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
50964	SOST	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
50964	SOST	HP:0003026	Short long bone	7/7	OMIM:615777
50964	SOST	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
50964	SOST	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:1513
50964	SOST	HP:0000767	Pectus excavatum	2/7	OMIM:615777
50964	SOST	HP:0000768	Pectus carinatum	1/7	OMIM:615777
50964	SOST	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
50964	SOST	HP:0000750	Delayed speech and language development	-	OMIM:615777
50964	SOST	HP:0011461	Fetal onset	7/7	OMIM:615777
50964	SOST	HP:0000774	Narrow chest	2/7	OMIM:615777
50964	SOST	HP:0011421	Death in adolescence	1/1	OMIM:122860
50964	SOST	HP:0004437	Cranial hyperostosis	HP:0040281	ORPHA:3416
50964	SOST	HP:0004437	Cranial hyperostosis	-	OMIM:239100
50964	SOST	HP:0003103	Abnormal cortical bone morphology	HP:0040281	ORPHA:3152
50964	SOST	HP:0003103	Abnormal cortical bone morphology	HP:0040281	ORPHA:3416
50964	SOST	HP:0000916	Broad clavicles	-	OMIM:269500
50964	SOST	HP:0000926	Platyspondyly	1/7	OMIM:615777
50964	SOST	HP:0003180	Flat acetabular roof	-	OMIM:615777
50964	SOST	HP:0000900	Thickened ribs	-	OMIM:122860
50964	SOST	HP:0003155	Elevated circulating alkaline phosphatase concentration	-	OMIM:239100
50964	SOST	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:122860
50964	SOST	HP:0004482	Relative macrocephaly	-	OMIM:615777
50964	SOST	HP:0003165	Elevated circulating parathyroid hormone level	1/1	OMIM:122860
50964	SOST	HP:0004493	Craniofacial hyperostosis	HP:0040281	ORPHA:3152
50964	SOST	HP:0004493	Craniofacial hyperostosis	HP:0040281	ORPHA:1513
50964	SOST	HP:0004493	Craniofacial hyperostosis	1/1	OMIM:122860
50964	SOST	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
50964	SOST	HP:0005789	Generalized osteosclerosis	HP:0040281	ORPHA:3416
50964	SOST	HP:0000889	Abnormal clavicle morphology	HP:0040281	ORPHA:3416
50964	SOST	HP:0000885	Broad ribs	-	OMIM:269500
50964	SOST	HP:0000858	Irregular menstruation	1/1	OMIM:269500
50964	SOST	HP:0000823	Delayed puberty	-	OMIM:131300
50964	SOST	HP:0000894	Short clavicles	-	OMIM:615777
50964	SOST	HP:0004576	Sclerotic vertebral endplates	1/1	OMIM:269500
50964	SOST	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
50964	SOST	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
50964	SOST	HP:0000935	Thickened cortex of long bones	-	OMIM:239100
50964	SOST	HP:0000286	Epicanthus	1/7	OMIM:615777
50964	SOST	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1513
50964	SOST	HP:0000280	Coarse facial features	2/7	OMIM:615777
50964	SOST	HP:0000256	Macrocephaly	HP:0040281	ORPHA:1513
50964	SOST	HP:0000256	Macrocephaly	-	OMIM:122860
50964	SOST	HP:0000272	Malar flattening	-	OMIM:269500
50964	SOST	HP:0006415	Cortically dense long tubular bones	-	OMIM:269500
50964	SOST	HP:0002829	Arthralgia	1/1	OMIM:269500
50964	SOST	HP:0002827	Hip dislocation	3/7	OMIM:615777
50964	SOST	HP:0000252	Microcephaly	-	OMIM:615777
50964	SOST	HP:0001548	Overgrowth	-	OMIM:269500
50964	SOST	HP:0002857	Genu valgum	-	OMIM:131300
50964	SOST	HP:0001533	Slender build	-	OMIM:131300
50964	SOST	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
50964	SOST	HP:0007807	Optic nerve compression	-	OMIM:131300
50964	SOST	HP:0012368	Flat face	7/7	OMIM:615777
50964	SOST	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
50964	SOST	HP:0000365	Hearing impairment	-	OMIM:239100
50964	SOST	HP:0000365	Hearing impairment	-	OMIM:122860
50964	SOST	HP:0000365	Hearing impairment	-	OMIM:269500
50964	SOST	HP:0000365	Hearing impairment	10/67	OMIM:131300
50964	SOST	HP:0000366	Abnormality of the nose	HP:0040281	ORPHA:3152
50964	SOST	HP:0001699	Sudden death	-	OMIM:269500
50964	SOST	HP:0000343	Long philtrum	1/7	OMIM:615777
50964	SOST	HP:0011001	Increased bone mineral density	-	OMIM:239100
50964	SOST	HP:0011001	Increased bone mineral density	-	OMIM:131300
50964	SOST	HP:0011001	Increased bone mineral density	HP:0040281	ORPHA:3152
50964	SOST	HP:0000336	Prominent supraorbital ridges	1/1	OMIM:269500
50964	SOST	HP:0000316	Hypertelorism	-	OMIM:122860
50964	SOST	HP:0000316	Hypertelorism	-	OMIM:269500
50964	SOST	HP:0000311	Round face	2/7	OMIM:615777
50964	SOST	HP:0002970	Genu varum	-	OMIM:615777
50964	SOST	HP:0000303	Mandibular prognathia	1/1	OMIM:269500
50964	SOST	HP:0000303	Mandibular prognathia	-	OMIM:131300
50964	SOST	HP:0000303	Mandibular prognathia	HP:0040281	ORPHA:3416
50964	SOST	HP:0000303	Mandibular prognathia	1/1	OMIM:122860
50964	SOST	HP:0007958	Optic atrophy from cranial nerve compression	-	OMIM:239100
50964	SOST	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:3152
50964	SOST	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:3416
50964	SOST	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:1513
50964	SOST	HP:0000402	Stenosis of the external auditory canal	HP:0040282	ORPHA:1513
50964	SOST	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:1513
50964	SOST	HP:0005280	Depressed nasal bridge	1/1	OMIM:122860
50964	SOST	HP:0005280	Depressed nasal bridge	-	OMIM:269500
50964	SOST	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
50964	SOST	HP:0011120	Concave nasal ridge	1/1	OMIM:122860
50964	SOST	HP:0000470	Short neck	1/7	OMIM:615777
50964	SOST	HP:0001769	Broad foot	HP:0040283	OMIM:615777
50964	SOST	HP:0001763	Pes planus	1/7	OMIM:615777
50964	SOST	HP:0000452	Choanal stenosis	1/1	OMIM:122860
50964	SOST	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1513
50964	SOST	HP:0000431	Wide nasal bridge	-	OMIM:122860
50964	SOST	HP:0000431	Wide nasal bridge	-	OMIM:269500
50964	SOST	HP:0025709	Intermediate young adult onset	1/1	OMIM:269500
50964	SOST	HP:0005464	Craniofacial osteosclerosis	1/1	OMIM:122860
50964	SOST	HP:0001840	Metatarsus adductus	-	OMIM:615777
50964	SOST	HP:0000529	Progressive visual loss	-	OMIM:122860
50964	SOST	HP:0000520	Proptosis	1/1	OMIM:269500
50964	SOST	HP:0000520	Proptosis	2/4	OMIM:131300
50964	SOST	HP:0000520	Proptosis	7/7	OMIM:615777
50964	SOST	HP:0000508	Ptosis	HP:0040282	ORPHA:3152
50964	SOST	HP:0004097	Deviation of finger	-	OMIM:269500
50964	SOST	HP:0000592	Blue sclerae	2/7	OMIM:615777
50964	SOST	HP:0000572	Visual loss	1/1	OMIM:269500
50964	SOST	HP:0000565	Esotropia	-	OMIM:269500
50964	SOST	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
50964	SOST	HP:0012514	Lower limb pain	4/4	OMIM:131300
51002	TPRKB	HP:0001181	Adducted thumb	HP:0040283	ORPHA:2065
51002	TPRKB	HP:0003774	Stage 5 chronic kidney disease	1/2	OMIM:617731
51002	TPRKB	HP:0002410	Aqueductal stenosis	HP:0040283	ORPHA:2065
51002	TPRKB	HP:0001276	Hypertonia	HP:0040283	ORPHA:2065
51002	TPRKB	HP:0001250	Seizure	HP:0040282	ORPHA:2065
51002	TPRKB	HP:0001252	Hypotonia	HP:0040283	ORPHA:2065
51002	TPRKB	HP:0001251	Ataxia	1/2	OMIM:617731
51002	TPRKB	HP:0001249	Intellectual disability	2/2	OMIM:617731
51002	TPRKB	HP:0001263	Global developmental delay	2/2	OMIM:617731
51002	TPRKB	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2065
51002	TPRKB	HP:0001257	Spasticity	2/2	OMIM:617731
51002	TPRKB	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:2065
51002	TPRKB	HP:0000097	Focal segmental glomerulosclerosis	2/2	OMIM:617731
51002	TPRKB	HP:0000093	Proteinuria	2/2	OMIM:617731
51002	TPRKB	HP:0000093	Proteinuria	HP:0040281	ORPHA:2065
51002	TPRKB	HP:0000007	Autosomal recessive inheritance	-	OMIM:617731
51002	TPRKB	HP:0001302	Pachygyria	1/2	OMIM:617731
51002	TPRKB	HP:0001302	Pachygyria	HP:0040282	ORPHA:2065
51002	TPRKB	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:2065
51002	TPRKB	HP:0000100	Nephrotic syndrome	HP:0040281	ORPHA:2065
51002	TPRKB	HP:0000112	Nephropathy	HP:0040281	ORPHA:2065
51002	TPRKB	HP:0002036	Hiatus hernia	HP:0040282	ORPHA:2065
51002	TPRKB	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:2065
51002	TPRKB	HP:0002119	Ventriculomegaly	1/2	OMIM:617731
51002	TPRKB	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2065
51002	TPRKB	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:2065
51002	TPRKB	HP:0009748	Large earlobe	1/1	OMIM:617731
51002	TPRKB	HP:0100720	Hypoplasia of the ear cartilage	HP:0040281	ORPHA:2065
51002	TPRKB	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2065
51002	TPRKB	HP:0000601	Hypotelorism	HP:0040283	ORPHA:2065
51002	TPRKB	HP:0004322	Short stature	HP:0040282	ORPHA:2065
51002	TPRKB	HP:0006970	Periventricular leukomalacia	1/2	OMIM:617731
51002	TPRKB	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:2065
51002	TPRKB	HP:0011463	Childhood onset	2/2	OMIM:617731
51002	TPRKB	HP:0011451	Primary microcephaly	2/2	OMIM:617731
51002	TPRKB	HP:0000969	Edema	1/2	OMIM:617731
51002	TPRKB	HP:0000286	Epicanthus	1/1	OMIM:617731
51002	TPRKB	HP:0000276	Long face	1/1	OMIM:617731
51002	TPRKB	HP:0005108	Abnormal intervertebral disk morphology	HP:0040283	ORPHA:2065
51002	TPRKB	HP:0000252	Microcephaly	HP:0040281	ORPHA:2065
51002	TPRKB	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2065
51002	TPRKB	HP:0000365	Hearing impairment	1/2	OMIM:617731
51002	TPRKB	HP:0000347	Micrognathia	HP:0040283	ORPHA:2065
51002	TPRKB	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2065
51002	TPRKB	HP:0000316	Hypertelorism	1/1	OMIM:617731
51002	TPRKB	HP:0001622	Premature birth	HP:0040282	ORPHA:2065
51002	TPRKB	HP:0000303	Mandibular prognathia	1/1	OMIM:617731
51002	TPRKB	HP:0000400	Macrotia	HP:0040282	ORPHA:2065
51002	TPRKB	HP:0000490	Deeply set eye	1/1	OMIM:617731
51002	TPRKB	HP:0012444	Brain atrophy	1/2	OMIM:617731
51002	TPRKB	HP:0012588	Steroid-resistant nephrotic syndrome	2/2	OMIM:617731
51004	COQ6	HP:0003774	Stage 5 chronic kidney disease	8/12	OMIM:614650
51004	COQ6	HP:0001250	Seizure	2/12	OMIM:614650
51004	COQ6	HP:0001250	Seizure	HP:0040284	ORPHA:93921
51004	COQ6	HP:0410275	Lumbosacral hemangioma	HP:0040283	ORPHA:93921
51004	COQ6	HP:0000097	Focal segmental glomerulosclerosis	7/8	OMIM:614650
51004	COQ6	HP:0000093	Proteinuria	-	OMIM:614650
51004	COQ6	HP:0012032	Lipoma	HP:0040283	ORPHA:93921
51004	COQ6	HP:0002664	Neoplasm	HP:0040283	ORPHA:93921
51004	COQ6	HP:0001324	Muscle weakness	HP:0040283	ORPHA:93921
51004	COQ6	HP:0000007	Autosomal recessive inheritance	-	OMIM:614650
51004	COQ6	HP:0033748	Hypoesthesia	HP:0040284	ORPHA:93921
51004	COQ6	HP:0002650	Scoliosis	HP:0040283	ORPHA:93921
51004	COQ6	HP:0000131	Uterine leiomyoma	HP:0040283	ORPHA:93921
51004	COQ6	HP:0011750	Neoplasm of the anterior pituitary	HP:0040284	ORPHA:93921
51004	COQ6	HP:0009589	Bilateral vestibular schwannoma	-	ORPHA:93921
51004	COQ6	HP:0003401	Paresthesia	HP:0040283	ORPHA:93921
51004	COQ6	HP:0009593	Peripheral schwannoma	HP:0040282	ORPHA:93921
51004	COQ6	HP:0003593	Infantile onset	5/12	OMIM:614650
51004	COQ6	HP:0002380	Fasciculations	HP:0040284	ORPHA:93921
51004	COQ6	HP:0003678	Rapidly progressive	-	OMIM:614650
51004	COQ6	HP:0003621	Juvenile onset	2/12	OMIM:614650
51004	COQ6	HP:0001967	Diffuse mesangial sclerosis	1/8	OMIM:614650
51004	COQ6	HP:0100008	Schwannoma	HP:0040280	ORPHA:93921
51004	COQ6	HP:0011463	Childhood onset	5/12	OMIM:614650
51004	COQ6	HP:0000787	Nephrolithiasis	1/12	OMIM:614650
51004	COQ6	HP:0010302	Spinal cord tumor	HP:0040282	ORPHA:93921
51004	COQ6	HP:0002858	Meningioma	HP:0040284	ORPHA:93921
51004	COQ6	HP:0000365	Hearing impairment	HP:0040283	ORPHA:93921
51004	COQ6	HP:0000360	Tinnitus	HP:0040283	ORPHA:93921
51004	COQ6	HP:0001621	Weak voice	HP:0040284	ORPHA:93921
51004	COQ6	HP:0000407	Sensorineural hearing impairment	10/12	OMIM:614650
51004	COQ6	HP:0000518	Cataract	HP:0040283	ORPHA:93921
51004	COQ6	HP:0012588	Steroid-resistant nephrotic syndrome	11/12	OMIM:614650
51004	COQ6	HP:0012531	Pain	HP:0040282	ORPHA:93921
51008	ASCC1	HP:0007269	Spinal muscular atrophy	-	OMIM:616867
51008	ASCC1	HP:0001290	Generalized hypotonia	-	OMIM:616867
51008	ASCC1	HP:0001284	Areflexia	2/2	OMIM:616867
51008	ASCC1	HP:0001263	Global developmental delay	2/2	OMIM:616867
51008	ASCC1	HP:0002536	Abnormal cortical gyration	2/2	OMIM:616867
51008	ASCC1	HP:0001371	Flexion contracture	-	OMIM:616867
51008	ASCC1	HP:0001324	Muscle weakness	2/2	OMIM:616867
51008	ASCC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616867
51008	ASCC1	HP:0002643	Neonatal respiratory distress	2/2	OMIM:616867
51008	ASCC1	HP:0001442	Typified by somatic mosaicism	-	OMIM:614266
51008	ASCC1	HP:0002020	Gastroesophageal reflux	-	OMIM:614266
51008	ASCC1	HP:0002015	Dysphagia	2/2	OMIM:616867
51008	ASCC1	HP:0002089	Pulmonary hypoplasia	2/2	OMIM:616867
51008	ASCC1	HP:0100580	Barrett esophagus	-	OMIM:614266
51008	ASCC1	HP:0003477	Peripheral axonal neuropathy	-	OMIM:616867
51008	ASCC1	HP:0003447	Axonal loss	-	OMIM:616867
51008	ASCC1	HP:0004791	Esophageal ulceration	HP:0040281	OMIM:614266
51008	ASCC1	HP:0003577	Congenital onset	-	OMIM:616867
51008	ASCC1	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:616867
51008	ASCC1	HP:0006829	Severe muscular hypotonia	2/2	OMIM:616867
51008	ASCC1	HP:0011459	Esophageal carcinoma	-	OMIM:614266
51008	ASCC1	HP:0003202	Skeletal muscle atrophy	-	OMIM:616867
51008	ASCC1	HP:0005855	Multiple prenatal fractures	2/2	OMIM:616867
51008	ASCC1	HP:0002804	Arthrogryposis multiplex congenita	2/2	OMIM:616867
51008	ASCC1	HP:0002878	Respiratory failure	-	OMIM:616867
51008	ASCC1	HP:0001561	Polyhydramnios	2/2	OMIM:616867
51008	ASCC1	HP:0001558	Decreased fetal movement	2/2	OMIM:616867
51008	ASCC1	HP:0001643	Patent ductus arteriosus	2/2	OMIM:616867
51008	ASCC1	HP:0001655	Patent foramen ovale	2/2	OMIM:616867
51008	ASCC1	HP:0001622	Premature birth	2/2	OMIM:616867
51010	EXOSC3	HP:0002421	Poor head control	-	OMIM:614678
51010	EXOSC3	HP:0001290	Generalized hypotonia	-	OMIM:614678
51010	EXOSC3	HP:0001272	Cerebellar atrophy	-	OMIM:614678
51010	EXOSC3	HP:0001270	Motor delay	HP:0040281	ORPHA:2254
51010	EXOSC3	HP:0001250	Seizure	HP:0040283	OMIM:614678
51010	EXOSC3	HP:0001250	Seizure	HP:0040283	ORPHA:2254
51010	EXOSC3	HP:0001252	Hypotonia	HP:0040281	ORPHA:2254
51010	EXOSC3	HP:0001251	Ataxia	HP:0040284	ORPHA:2254
51010	EXOSC3	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:2254
51010	EXOSC3	HP:0001263	Global developmental delay	-	OMIM:614678
51010	EXOSC3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2254
51010	EXOSC3	HP:0001257	Spasticity	HP:0040283	ORPHA:2254
51010	EXOSC3	HP:0001257	Spasticity	-	OMIM:614678
51010	EXOSC3	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:2254
51010	EXOSC3	HP:0001371	Flexion contracture	-	OMIM:614678
51010	EXOSC3	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2254
51010	EXOSC3	HP:0001347	Hyperreflexia	-	OMIM:614678
51010	EXOSC3	HP:0033725	Thin corpus callosum	HP:0040283	ORPHA:2254
51010	EXOSC3	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2254
51010	EXOSC3	HP:0001324	Muscle weakness	-	OMIM:614678
51010	EXOSC3	HP:0001344	Absent speech	-	OMIM:614678
51010	EXOSC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:614678
51010	EXOSC3	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:2254
51010	EXOSC3	HP:0001308	Tongue fasciculations	-	OMIM:614678
51010	EXOSC3	HP:0008936	Axial hypotonia	-	OMIM:614678
51010	EXOSC3	HP:0012110	Hypoplasia of the pons	HP:0040282	ORPHA:2254
51010	EXOSC3	HP:0002093	Respiratory insufficiency	-	OMIM:614678
51010	EXOSC3	HP:0002059	Cerebral atrophy	-	OMIM:614678
51010	EXOSC3	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:2254
51010	EXOSC3	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:2254
51010	EXOSC3	HP:0003577	Congenital onset	-	OMIM:614678
51010	EXOSC3	HP:0004886	Congenital laryngeal stridor	HP:0040283	ORPHA:2254
51010	EXOSC3	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2254
51010	EXOSC3	HP:0011968	Feeding difficulties	-	OMIM:614678
51010	EXOSC3	HP:0002398	Degeneration of anterior horn cells	HP:0040281	ORPHA:2254
51010	EXOSC3	HP:0002350	Cerebellar cyst	HP:0040283	ORPHA:2254
51010	EXOSC3	HP:0002350	Cerebellar cyst	-	OMIM:614678
51010	EXOSC3	HP:0000639	Nystagmus	HP:0040282	ORPHA:2254
51010	EXOSC3	HP:0000639	Nystagmus	-	OMIM:614678
51010	EXOSC3	HP:0000648	Optic atrophy	HP:0040282	ORPHA:2254
51010	EXOSC3	HP:0000657	Oculomotor apraxia	-	OMIM:614678
51010	EXOSC3	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:2254
51010	EXOSC3	HP:0003202	Skeletal muscle atrophy	-	OMIM:614678
51010	EXOSC3	HP:0002827	Hip dislocation	-	OMIM:614678
51010	EXOSC3	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	ORPHA:2254
51010	EXOSC3	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:2254
51010	EXOSC3	HP:0000253	Progressive microcephaly	-	OMIM:614678
51010	EXOSC3	HP:0002878	Respiratory failure	HP:0040281	ORPHA:2254
51010	EXOSC3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2254
51010	EXOSC3	HP:0001510	Growth delay	-	OMIM:614678
51010	EXOSC3	HP:0000486	Strabismus	HP:0040283	ORPHA:2254
51010	EXOSC3	HP:0000486	Strabismus	-	OMIM:614678
51010	EXOSC3	HP:0012473	Tongue atrophy	-	OMIM:614678
51010	EXOSC3	HP:0001760	Abnormal foot morphology	-	OMIM:614678
51010	EXOSC3	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:2254
51010	EXOSC3	HP:0000556	Retinal dystrophy	HP:0040283	OMIM:614678
51010	EXOSC3	HP:0000565	Esotropia	HP:0040284	ORPHA:2254
51013	EXOSC1	HP:0001252	Hypotonia	1/1	OMIM:619304
51013	EXOSC1	HP:0001265	Hyporeflexia	1/1	OMIM:619304
51013	EXOSC1	HP:0001263	Global developmental delay	1/1	OMIM:619304
51013	EXOSC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619304
51013	EXOSC1	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:619304
51013	EXOSC1	HP:0012110	Hypoplasia of the pons	1/1	OMIM:619304
51013	EXOSC1	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:619304
51013	EXOSC1	HP:0002059	Cerebral atrophy	1/1	OMIM:619304
51013	EXOSC1	HP:0002188	Delayed CNS myelination	1/1	OMIM:619304
51013	EXOSC1	HP:0000278	Retrognathia	1/1	OMIM:619304
51013	EXOSC1	HP:0000252	Microcephaly	1/1	OMIM:619304
51013	EXOSC1	HP:0001510	Growth delay	1/1	OMIM:619304
51013	EXOSC1	HP:0000343	Long philtrum	1/1	OMIM:619304
51013	EXOSC1	HP:0000348	High forehead	1/1	OMIM:619304
51013	EXOSC1	HP:0000319	Smooth philtrum	1/1	OMIM:619304
51013	EXOSC1	HP:0005280	Depressed nasal bridge	1/1	OMIM:619304
51013	EXOSC1	HP:0000486	Strabismus	1/1	OMIM:619304
51013	EXOSC1	HP:0012471	Thick vermilion border	1/1	OMIM:619304
51013	EXOSC1	HP:0000463	Anteverted nares	1/1	OMIM:619304
51013	EXOSC1	HP:0000506	Telecanthus	1/1	OMIM:619304
51013	EXOSC1	HP:0000592	Blue sclerae	1/1	OMIM:619304
51021	MRPS16	HP:0001156	Brachydactyly	1/1	OMIM:610498
51021	MRPS16	HP:0010952	Mild fetal ventriculomegaly	1/1	OMIM:610498
51021	MRPS16	HP:0001274	Agenesis of corpus callosum	1/1	OMIM:610498
51021	MRPS16	HP:0001254	Lethargy	1/1	OMIM:610498
51021	MRPS16	HP:0003811	Neonatal death	1/1	OMIM:610498
51021	MRPS16	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:610498
51021	MRPS16	HP:0000007	Autosomal recessive inheritance	-	OMIM:610498
51021	MRPS16	HP:0001319	Neonatal hypotonia	1/1	OMIM:610498
51021	MRPS16	HP:0005989	Redundant neck skin	1/1	OMIM:610498
51021	MRPS16	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:610498
51021	MRPS16	HP:0011924	Decreased activity of mitochondrial complex III	1/1	OMIM:610498
51021	MRPS16	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	1/1	OMIM:610498
51021	MRPS16	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:610498
51021	MRPS16	HP:0003577	Congenital onset	1/1	OMIM:610498
51021	MRPS16	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:610498
51021	MRPS16	HP:0002375	Hypokinesia	1/1	OMIM:610498
51021	MRPS16	HP:0003128	Lactic acidosis	1/1	OMIM:610498
51021	MRPS16	HP:0000969	Edema	1/1	OMIM:610498
51021	MRPS16	HP:0001518	Small for gestational age	1/1	OMIM:610498
51021	MRPS16	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:610498
51021	MRPS16	HP:0000369	Low-set ears	1/1	OMIM:610498
51021	MRPS16	HP:0001643	Patent ductus arteriosus	1/1	OMIM:610498
51025	PAM16	HP:0008551	Microtia	-	OMIM:613320
51025	PAM16	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
51025	PAM16	HP:0001293	Cranial nerve compression	-	OMIM:131300
51025	PAM16	HP:0001252	Hypotonia	2/7	OMIM:615777
51025	PAM16	HP:0001249	Intellectual disability	5/7	OMIM:615777
51025	PAM16	HP:0001263	Global developmental delay	-	OMIM:613320
51025	PAM16	HP:0001263	Global developmental delay	-	OMIM:615777
51025	PAM16	HP:0002515	Waddling gait	54/102	OMIM:131300
51025	PAM16	HP:0003819	Death in childhood	2/4	OMIM:613320
51025	PAM16	HP:0001382	Joint hypermobility	-	OMIM:615777
51025	PAM16	HP:0002694	Sclerosis of skull base	-	OMIM:131300
51025	PAM16	HP:0008897	Postnatal growth retardation	4/4	OMIM:613320
51025	PAM16	HP:0008897	Postnatal growth retardation	-	OMIM:615777
51025	PAM16	HP:0008786	Iliac crest serration	-	OMIM:613320
51025	PAM16	HP:0002663	Delayed epiphyseal ossification	4/4	OMIM:613320
51025	PAM16	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
51025	PAM16	HP:0001324	Muscle weakness	40/96	OMIM:131300
51025	PAM16	HP:0002657	Spondylometaphyseal dysplasia	-	OMIM:613320
51025	PAM16	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
51025	PAM16	HP:0000007	Autosomal recessive inheritance	-	OMIM:613320
51025	PAM16	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
51025	PAM16	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
51025	PAM16	HP:0002650	Scoliosis	12/14	OMIM:131300
51025	PAM16	HP:0002645	Wormian bones	-	OMIM:613320
51025	PAM16	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
51025	PAM16	HP:0002617	Vascular dilatation	-	OMIM:613320
51025	PAM16	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
51025	PAM16	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
51025	PAM16	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
51025	PAM16	HP:0000175	Cleft palate	2/7	OMIM:615777
51025	PAM16	HP:0008936	Axial hypotonia	-	OMIM:613320
51025	PAM16	HP:0002789	Tachypnea	-	OMIM:613320
51025	PAM16	HP:0002750	Delayed skeletal maturation	-	OMIM:613320
51025	PAM16	HP:0002002	Deep philtrum	-	OMIM:613320
51025	PAM16	HP:0002007	Frontal bossing	-	OMIM:613320
51025	PAM16	HP:0002092	Pulmonary arterial hypertension	-	OMIM:613320
51025	PAM16	HP:0003388	Easy fatigability	36/76	OMIM:131300
51025	PAM16	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
51025	PAM16	HP:0003577	Congenital onset	4/4	OMIM:613320
51025	PAM16	HP:0003510	Severe short stature	7/7	OMIM:615777
51025	PAM16	HP:0002375	Hypokinesia	-	OMIM:613320
51025	PAM16	HP:0002315	Headache	-	OMIM:131300
51025	PAM16	HP:0004976	Knee dislocation	6/7	OMIM:615777
51025	PAM16	HP:0009803	Short phalanx of finger	-	OMIM:615777
51025	PAM16	HP:0008455	Dysplastic sacrum	-	OMIM:613320
51025	PAM16	HP:0009763	Limb pain	63/92	OMIM:131300
51025	PAM16	HP:0003621	Juvenile onset	-	OMIM:131300
51025	PAM16	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
51025	PAM16	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
51025	PAM16	HP:6001056	Out-toeing	-	OMIM:131300
51025	PAM16	HP:0000651	Diplopia	-	OMIM:131300
51025	PAM16	HP:0001956	Truncal obesity	2/7	OMIM:615777
51025	PAM16	HP:0001903	Anemia	HP:0040283	OMIM:131300
51025	PAM16	HP:0010049	Short metacarpal	-	OMIM:615777
51025	PAM16	HP:0000678	Dental crowding	-	OMIM:615777
51025	PAM16	HP:0000670	Carious teeth	-	OMIM:131300
51025	PAM16	HP:0011304	Broad thumb	2/7	OMIM:615777
51025	PAM16	HP:0000668	Hypodontia	-	OMIM:615777
51025	PAM16	HP:0000664	Synophrys	-	OMIM:615777
51025	PAM16	HP:0004322	Short stature	-	OMIM:613320
51025	PAM16	HP:0004396	Poor appetite	-	OMIM:131300
51025	PAM16	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
51025	PAM16	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
51025	PAM16	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
51025	PAM16	HP:0003026	Short long bone	7/7	OMIM:615777
51025	PAM16	HP:0003026	Short long bone	4/4	OMIM:613320
51025	PAM16	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
51025	PAM16	HP:0003021	Metaphyseal cupping	-	OMIM:613320
51025	PAM16	HP:0000767	Pectus excavatum	2/7	OMIM:615777
51025	PAM16	HP:0000768	Pectus carinatum	1/7	OMIM:615777
51025	PAM16	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
51025	PAM16	HP:0000750	Delayed speech and language development	-	OMIM:615777
51025	PAM16	HP:0011461	Fetal onset	7/7	OMIM:615777
51025	PAM16	HP:0000774	Narrow chest	4/4	OMIM:613320
51025	PAM16	HP:0000774	Narrow chest	2/7	OMIM:615777
51025	PAM16	HP:0000773	Short ribs	4/4	OMIM:613320
51025	PAM16	HP:0003196	Short nose	-	OMIM:613320
51025	PAM16	HP:0000926	Platyspondyly	1/7	OMIM:615777
51025	PAM16	HP:0003177	Squared iliac bones	4/4	OMIM:613320
51025	PAM16	HP:0003175	Hypoplastic ischia	-	OMIM:613320
51025	PAM16	HP:0003180	Flat acetabular roof	-	OMIM:615777
51025	PAM16	HP:0003180	Flat acetabular roof	4/4	OMIM:613320
51025	PAM16	HP:0004482	Relative macrocephaly	-	OMIM:615777
51025	PAM16	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
51025	PAM16	HP:0000822	Hypertension	-	OMIM:613320
51025	PAM16	HP:0000823	Delayed puberty	-	OMIM:131300
51025	PAM16	HP:0000894	Short clavicles	-	OMIM:615777
51025	PAM16	HP:0004565	Severe platyspondyly	4/4	OMIM:613320
51025	PAM16	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
51025	PAM16	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
51025	PAM16	HP:0000286	Epicanthus	1/7	OMIM:615777
51025	PAM16	HP:0000280	Coarse facial features	2/7	OMIM:615777
51025	PAM16	HP:0001591	Bell-shaped thorax	-	OMIM:613320
51025	PAM16	HP:0002827	Hip dislocation	3/7	OMIM:615777
51025	PAM16	HP:0006387	Wide distal femoral metaphysis	4/4	OMIM:613320
51025	PAM16	HP:0000239	Large fontanelles	-	OMIM:613320
51025	PAM16	HP:0000252	Microcephaly	-	OMIM:615777
51025	PAM16	HP:0002857	Genu valgum	-	OMIM:131300
51025	PAM16	HP:0001522	Death in infancy	1/4	OMIM:613320
51025	PAM16	HP:0001533	Slender build	-	OMIM:131300
51025	PAM16	HP:0001518	Small for gestational age	4/4	OMIM:613320
51025	PAM16	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
51025	PAM16	HP:0007807	Optic nerve compression	-	OMIM:131300
51025	PAM16	HP:0012368	Flat face	7/7	OMIM:615777
51025	PAM16	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
51025	PAM16	HP:0000365	Hearing impairment	10/67	OMIM:131300
51025	PAM16	HP:0000369	Low-set ears	-	OMIM:613320
51025	PAM16	HP:0000343	Long philtrum	1/7	OMIM:615777
51025	PAM16	HP:0011001	Increased bone mineral density	-	OMIM:131300
51025	PAM16	HP:0002983	Micromelia	-	OMIM:613320
51025	PAM16	HP:0000311	Round face	2/7	OMIM:615777
51025	PAM16	HP:0000311	Round face	-	OMIM:613320
51025	PAM16	HP:0001640	Cardiomegaly	-	OMIM:613320
51025	PAM16	HP:0002970	Genu varum	-	OMIM:615777
51025	PAM16	HP:0000303	Mandibular prognathia	-	OMIM:131300
51025	PAM16	HP:0005280	Depressed nasal bridge	-	OMIM:613320
51025	PAM16	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
51025	PAM16	HP:0000463	Anteverted nares	-	OMIM:613320
51025	PAM16	HP:0000470	Short neck	-	OMIM:613320
51025	PAM16	HP:0000470	Short neck	1/7	OMIM:615777
51025	PAM16	HP:0001769	Broad foot	HP:0040283	OMIM:615777
51025	PAM16	HP:0001763	Pes planus	1/7	OMIM:615777
51025	PAM16	HP:0000445	Wide nose	-	OMIM:613320
51025	PAM16	HP:0001840	Metatarsus adductus	-	OMIM:615777
51025	PAM16	HP:0000520	Proptosis	2/4	OMIM:131300
51025	PAM16	HP:0000520	Proptosis	7/7	OMIM:615777
51025	PAM16	HP:0000592	Blue sclerae	2/7	OMIM:615777
51025	PAM16	HP:0011220	Prominent forehead	-	OMIM:613320
51025	PAM16	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
51025	PAM16	HP:0012514	Lower limb pain	4/4	OMIM:131300
51053	GMNN	HP:0009939	Mandibular aplasia	HP:0040281	ORPHA:2554
51053	GMNN	HP:0009892	Anotia	HP:0040281	ORPHA:2554
51053	GMNN	HP:0008551	Microtia	3/3	OMIM:616835
51053	GMNN	HP:0009879	Simplified gyral pattern	-	OMIM:616835
51053	GMNN	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
51053	GMNN	HP:0001293	Cranial nerve compression	-	OMIM:131300
51053	GMNN	HP:0001270	Motor delay	2/3	OMIM:616835
51053	GMNN	HP:0001252	Hypotonia	2/7	OMIM:615777
51053	GMNN	HP:0001249	Intellectual disability	-	OMIM:616835
51053	GMNN	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2554
51053	GMNN	HP:0001249	Intellectual disability	5/7	OMIM:615777
51053	GMNN	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2554
51053	GMNN	HP:0001263	Global developmental delay	-	OMIM:615777
51053	GMNN	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:2554
51053	GMNN	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:2554
51053	GMNN	HP:0002515	Waddling gait	54/102	OMIM:131300
51053	GMNN	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:2554
51053	GMNN	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:2554
51053	GMNN	HP:0000059	Hypoplastic labia majora	HP:0040282	ORPHA:2554
51053	GMNN	HP:0000059	Hypoplastic labia majora	-	OMIM:616835
51053	GMNN	HP:0000039	Epispadias	HP:0040283	ORPHA:2554
51053	GMNN	HP:0001385	Hip dysplasia	-	OMIM:616835
51053	GMNN	HP:0001382	Joint hypermobility	-	OMIM:615777
51053	GMNN	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:2554
51053	GMNN	HP:0000047	Hypospadias	HP:0040283	ORPHA:2554
51053	GMNN	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:2554
51053	GMNN	HP:0002694	Sclerosis of skull base	-	OMIM:131300
51053	GMNN	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2554
51053	GMNN	HP:0000028	Cryptorchidism	-	OMIM:616835
51053	GMNN	HP:0008897	Postnatal growth retardation	-	OMIM:615777
51053	GMNN	HP:0001328	Specific learning disability	HP:0040283	ORPHA:2554
51053	GMNN	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
51053	GMNN	HP:0001324	Muscle weakness	40/96	OMIM:131300
51053	GMNN	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
51053	GMNN	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
51053	GMNN	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
51053	GMNN	HP:0000006	Autosomal dominant inheritance	-	OMIM:616835
51053	GMNN	HP:0002650	Scoliosis	12/14	OMIM:131300
51053	GMNN	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
51053	GMNN	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
51053	GMNN	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
51053	GMNN	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
51053	GMNN	HP:0000193	Bifid uvula	HP:0040283	ORPHA:2554
51053	GMNN	HP:0000160	Narrow mouth	HP:0040281	ORPHA:2554
51053	GMNN	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:2554
51053	GMNN	HP:0000175	Cleft palate	-	OMIM:616835
51053	GMNN	HP:0000175	Cleft palate	2/7	OMIM:615777
51053	GMNN	HP:0000175	Cleft palate	HP:0040283	ORPHA:2554
51053	GMNN	HP:0002705	High, narrow palate	HP:0040282	ORPHA:2554
51053	GMNN	HP:0002786	Tracheobronchomalacia	1/3	OMIM:616835
51053	GMNN	HP:0002750	Delayed skeletal maturation	2/2	OMIM:616835
51053	GMNN	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2554
51053	GMNN	HP:0002020	Gastroesophageal reflux	1/3	OMIM:616835
51053	GMNN	HP:0002007	Frontal bossing	3/3	OMIM:616835
51053	GMNN	HP:0011800	Midface retrusion	-	OMIM:616835
51053	GMNN	HP:0002098	Respiratory distress	HP:0040282	ORPHA:2554
51053	GMNN	HP:0002097	Emphysema	1/3	OMIM:616835
51053	GMNN	HP:0002094	Dyspnea	HP:0040282	ORPHA:2554
51053	GMNN	HP:0003388	Easy fatigability	36/76	OMIM:131300
51053	GMNN	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
51053	GMNN	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2554
51053	GMNN	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:2554
51053	GMNN	HP:0002205	Recurrent respiratory infections	-	OMIM:616835
51053	GMNN	HP:0100783	Breast aplasia	HP:0040283	ORPHA:2554
51053	GMNN	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:2554
51053	GMNN	HP:0011968	Feeding difficulties	3/3	OMIM:616835
51053	GMNN	HP:0003510	Severe short stature	7/7	OMIM:615777
51053	GMNN	HP:0003510	Severe short stature	HP:0040281	ORPHA:2554
51053	GMNN	HP:0003510	Severe short stature	3/3	OMIM:616835
51053	GMNN	HP:0002315	Headache	-	OMIM:131300
51053	GMNN	HP:0004976	Knee dislocation	6/7	OMIM:615777
51053	GMNN	HP:0009803	Short phalanx of finger	-	OMIM:615777
51053	GMNN	HP:0009763	Limb pain	63/92	OMIM:131300
51053	GMNN	HP:0003621	Juvenile onset	-	OMIM:131300
51053	GMNN	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
51053	GMNN	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:2554
51053	GMNN	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
51053	GMNN	HP:6001056	Out-toeing	-	OMIM:131300
51053	GMNN	HP:0000651	Diplopia	-	OMIM:131300
51053	GMNN	HP:0001956	Truncal obesity	2/7	OMIM:615777
51053	GMNN	HP:0000621	Entropion	-	OMIM:616835
51053	GMNN	HP:0001903	Anemia	HP:0040283	OMIM:131300
51053	GMNN	HP:0010049	Short metacarpal	-	OMIM:615777
51053	GMNN	HP:0000678	Dental crowding	-	OMIM:615777
51053	GMNN	HP:0000670	Carious teeth	-	OMIM:131300
51053	GMNN	HP:0011304	Broad thumb	2/7	OMIM:615777
51053	GMNN	HP:0000668	Hypodontia	-	OMIM:615777
51053	GMNN	HP:0000664	Synophrys	-	OMIM:615777
51053	GMNN	HP:0004396	Poor appetite	-	OMIM:131300
51053	GMNN	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
51053	GMNN	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
51053	GMNN	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:2554
51053	GMNN	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
51053	GMNN	HP:0003026	Short long bone	7/7	OMIM:615777
51053	GMNN	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
51053	GMNN	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:2554
51053	GMNN	HP:0000767	Pectus excavatum	2/7	OMIM:615777
51053	GMNN	HP:0000768	Pectus carinatum	1/7	OMIM:615777
51053	GMNN	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
51053	GMNN	HP:0000750	Delayed speech and language development	2/3	OMIM:616835
51053	GMNN	HP:0000750	Delayed speech and language development	-	OMIM:615777
51053	GMNN	HP:0011461	Fetal onset	7/7	OMIM:615777
51053	GMNN	HP:0000774	Narrow chest	2/7	OMIM:615777
51053	GMNN	HP:0003100	Slender long bone	HP:0040281	ORPHA:2554
51053	GMNN	HP:0003196	Short nose	-	OMIM:616835
51053	GMNN	HP:0000926	Platyspondyly	1/7	OMIM:615777
51053	GMNN	HP:0003180	Flat acetabular roof	-	OMIM:615777
51053	GMNN	HP:0004482	Relative macrocephaly	-	OMIM:615777
51053	GMNN	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
51053	GMNN	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:616835
51053	GMNN	HP:0000823	Delayed puberty	-	OMIM:131300
51053	GMNN	HP:0000823	Delayed puberty	-	OMIM:616835
51053	GMNN	HP:0000894	Short clavicles	-	OMIM:615777
51053	GMNN	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
51053	GMNN	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
51053	GMNN	HP:0005819	Short middle phalanx of finger	-	OMIM:616835
51053	GMNN	HP:0000286	Epicanthus	1/7	OMIM:615777
51053	GMNN	HP:0000280	Coarse facial features	2/7	OMIM:615777
51053	GMNN	HP:0000278	Retrognathia	HP:0040281	ORPHA:2554
51053	GMNN	HP:0006443	Patellar aplasia	HP:0040282	ORPHA:2554
51053	GMNN	HP:0006443	Patellar aplasia	3/3	OMIM:616835
51053	GMNN	HP:0002827	Hip dislocation	3/7	OMIM:615777
51053	GMNN	HP:0000252	Microcephaly	-	OMIM:616835
51053	GMNN	HP:0000252	Microcephaly	HP:0040281	ORPHA:2554
51053	GMNN	HP:0000252	Microcephaly	-	OMIM:615777
51053	GMNN	HP:0002878	Respiratory failure	HP:0040282	ORPHA:2554
51053	GMNN	HP:0002857	Genu valgum	-	OMIM:131300
51053	GMNN	HP:0001537	Umbilical hernia	-	OMIM:616835
51053	GMNN	HP:0001533	Slender build	-	OMIM:131300
51053	GMNN	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2554
51053	GMNN	HP:0001508	Failure to thrive	2/3	OMIM:616835
51053	GMNN	HP:0001518	Small for gestational age	3/3	OMIM:616835
51053	GMNN	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
51053	GMNN	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2554
51053	GMNN	HP:0001510	Growth delay	HP:0040281	ORPHA:2554
51053	GMNN	HP:0007807	Optic nerve compression	-	OMIM:131300
51053	GMNN	HP:0012368	Flat face	7/7	OMIM:615777
51053	GMNN	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
51053	GMNN	HP:0001601	Laryngomalacia	1/3	OMIM:616835
51053	GMNN	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2554
51053	GMNN	HP:0000365	Hearing impairment	10/67	OMIM:131300
51053	GMNN	HP:0000356	Abnormality of the outer ear	HP:0040281	ORPHA:2554
51053	GMNN	HP:0000358	Posteriorly rotated ears	2/3	OMIM:616835
51053	GMNN	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2554
51053	GMNN	HP:0000369	Low-set ears	HP:0040282	ORPHA:2554
51053	GMNN	HP:0000343	Long philtrum	1/7	OMIM:615777
51053	GMNN	HP:0011001	Increased bone mineral density	-	OMIM:131300
51053	GMNN	HP:0000348	High forehead	-	OMIM:616835
51053	GMNN	HP:0000347	Micrognathia	HP:0040281	ORPHA:2554
51053	GMNN	HP:0000311	Round face	2/7	OMIM:615777
51053	GMNN	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:2554
51053	GMNN	HP:0002970	Genu varum	-	OMIM:615777
51053	GMNN	HP:0000308	Microretrognathia	3/3	OMIM:616835
51053	GMNN	HP:0000303	Mandibular prognathia	-	OMIM:131300
51053	GMNN	HP:0006660	Aplastic clavicle	HP:0040282	ORPHA:2554
51053	GMNN	HP:0000405	Conductive hearing impairment	-	OMIM:616835
51053	GMNN	HP:0000402	Stenosis of the external auditory canal	-	OMIM:616835
51053	GMNN	HP:0005280	Depressed nasal bridge	-	OMIM:616835
51053	GMNN	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
51053	GMNN	HP:0000486	Strabismus	-	OMIM:616835
51053	GMNN	HP:0012471	Thick vermilion border	3/3	OMIM:616835
51053	GMNN	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:2554
51053	GMNN	HP:0000494	Downslanted palpebral fissures	1/3	OMIM:616835
51053	GMNN	HP:0000463	Anteverted nares	1/3	OMIM:616835
51053	GMNN	HP:0012448	Delayed myelination	-	OMIM:616835
51053	GMNN	HP:0000457	Depressed nasal ridge	-	OMIM:616835
51053	GMNN	HP:0000470	Short neck	1/7	OMIM:615777
51053	GMNN	HP:0001769	Broad foot	HP:0040283	OMIM:615777
51053	GMNN	HP:0001763	Pes planus	1/7	OMIM:615777
51053	GMNN	HP:0000413	Atresia of the external auditory canal	HP:0040281	ORPHA:2554
51053	GMNN	HP:0000430	Underdeveloped nasal alae	3/3	OMIM:616835
51053	GMNN	HP:0011267	Microtia, third degree	HP:0040281	ORPHA:2554
51053	GMNN	HP:0001840	Metatarsus adductus	-	OMIM:615777
51053	GMNN	HP:0001852	Sandal gap	-	OMIM:616835
51053	GMNN	HP:0000520	Proptosis	2/4	OMIM:131300
51053	GMNN	HP:0000520	Proptosis	7/7	OMIM:615777
51053	GMNN	HP:0000592	Blue sclerae	2/7	OMIM:615777
51053	GMNN	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
51053	GMNN	HP:0012514	Lower limb pain	4/4	OMIM:131300
51057	WDPCP	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
51057	WDPCP	HP:0001162	Postaxial hand polydactyly	-	OMIM:217085
51057	WDPCP	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
51057	WDPCP	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
51057	WDPCP	HP:0100835	Benign neoplasm of the central nervous system	HP:0040282	ORPHA:1338
51057	WDPCP	HP:0001250	Seizure	HP:0040283	ORPHA:110
51057	WDPCP	HP:0001251	Ataxia	HP:0040283	ORPHA:110
51057	WDPCP	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
51057	WDPCP	HP:0001263	Global developmental delay	0/1	OMIM:217085
51057	WDPCP	HP:0001257	Spasticity	HP:0040283	ORPHA:110
51057	WDPCP	HP:0001233	2-3 finger cutaneous syndactyly	-	OMIM:217085
51057	WDPCP	HP:0001233	2-3 finger cutaneous syndactyly	HP:0040282	ORPHA:1338
51057	WDPCP	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
51057	WDPCP	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
51057	WDPCP	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
51057	WDPCP	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
51057	WDPCP	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
51057	WDPCP	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
51057	WDPCP	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1338
51057	WDPCP	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000007	Autosomal recessive inheritance	-	OMIM:615992
51057	WDPCP	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
51057	WDPCP	HP:0000007	Autosomal recessive inheritance	-	OMIM:217085
51057	WDPCP	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
51057	WDPCP	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
51057	WDPCP	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
51057	WDPCP	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
51057	WDPCP	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
51057	WDPCP	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
51057	WDPCP	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
51057	WDPCP	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
51057	WDPCP	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
51057	WDPCP	HP:0004691	2-3 toe syndactyly	1/1	OMIM:217085
51057	WDPCP	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
51057	WDPCP	HP:0011802	Hamartoma of tongue	1/1	OMIM:217085
51057	WDPCP	HP:0011802	Hamartoma of tongue	HP:0040281	ORPHA:1338
51057	WDPCP	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
51057	WDPCP	HP:0002099	Asthma	HP:0040283	ORPHA:110
51057	WDPCP	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
51057	WDPCP	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
51057	WDPCP	HP:0003577	Congenital onset	1/1	OMIM:217085
51057	WDPCP	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
51057	WDPCP	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
51057	WDPCP	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
51057	WDPCP	HP:0011968	Feeding difficulties	1/1	OMIM:217085
51057	WDPCP	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
51057	WDPCP	HP:0003621	Juvenile onset	8/19	OMIM:180100
51057	WDPCP	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
51057	WDPCP	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000618	Blindness	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000613	Photophobia	HP:0040282	ORPHA:110
51057	WDPCP	HP:0010055	Broad hallux	1/1	OMIM:217085
51057	WDPCP	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000691	Microdontia	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000662	Nyctalopia	26/28	OMIM:180100
51057	WDPCP	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
51057	WDPCP	HP:0004322	Short stature	HP:0040282	ORPHA:110
51057	WDPCP	HP:0005696	Postaxial polydactyly type A	1/1	OMIM:217085
51057	WDPCP	HP:0000739	Anxiety	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000736	Short attention span	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000716	Depression	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000717	Autism	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
51057	WDPCP	HP:0011463	Childhood onset	3/19	OMIM:180100
51057	WDPCP	HP:0011462	Young adult onset	8/19	OMIM:180100
51057	WDPCP	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
51057	WDPCP	HP:0000789	Infertility	HP:0040283	ORPHA:110
51057	WDPCP	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
51057	WDPCP	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000822	Hypertension	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
51057	WDPCP	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
51057	WDPCP	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
51057	WDPCP	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
51057	WDPCP	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
51057	WDPCP	HP:0000218	High palate	HP:0040282	ORPHA:110
51057	WDPCP	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000202	Orofacial cleft	0/1	OMIM:217085
51057	WDPCP	HP:0001513	Obesity	HP:0040281	ORPHA:110
51057	WDPCP	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
51057	WDPCP	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
51057	WDPCP	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
51057	WDPCP	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000388	Otitis media	HP:0040283	ORPHA:110
51057	WDPCP	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
51057	WDPCP	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
51057	WDPCP	HP:0001674	Complete atrioventricular canal defect	-	OMIM:217085
51057	WDPCP	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
51057	WDPCP	HP:0001682	Subvalvular aortic stenosis	-	OMIM:217085
51057	WDPCP	HP:0001682	Subvalvular aortic stenosis	HP:0040281	ORPHA:1338
51057	WDPCP	HP:0001680	Coarctation of aorta	1/1	OMIM:217085
51057	WDPCP	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000316	Hypertelorism	0/1	OMIM:217085
51057	WDPCP	HP:0001643	Patent ductus arteriosus	HP:0040281	ORPHA:1338
51057	WDPCP	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
51057	WDPCP	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
51057	WDPCP	HP:0000400	Macrotia	HP:0040283	ORPHA:110
51057	WDPCP	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000486	Strabismus	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000470	Short neck	HP:0040283	ORPHA:110
51057	WDPCP	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000518	Cataract	HP:0040283	ORPHA:110
51057	WDPCP	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
51057	WDPCP	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000575	Scotoma	5/18	OMIM:180100
51057	WDPCP	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
51057	WDPCP	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
51057	WDPCP	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
51057	WDPCP	HP:0000543	Optic disc pallor	1/1	OMIM:180100
51057	WDPCP	HP:0000545	Myopia	-	OMIM:180100
51062	ATL1	HP:0002495	Impaired vibratory sensation	HP:0040283	ORPHA:100984
51062	ATL1	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:36386
51062	ATL1	HP:0100963	Hyperesthesia	HP:0040284	ORPHA:100984
51062	ATL1	HP:0001270	Motor delay	-	OMIM:182600
51062	ATL1	HP:0001270	Motor delay	HP:0040283	ORPHA:100984
51062	ATL1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:100984
51062	ATL1	HP:0001256	Intellectual disability, mild	HP:0040283	OMIM:182600
51062	ATL1	HP:0001260	Dysarthria	HP:0040284	ORPHA:100984
51062	ATL1	HP:0001258	Spastic paraplegia	-	OMIM:182600
51062	ATL1	HP:0031060	Impaired ability to dress oneself	HP:0040281	ORPHA:36386
51062	ATL1	HP:0007340	Lower limb muscle weakness	11/11	OMIM:182600
51062	ATL1	HP:0002540	Inability to walk	HP:0040283	ORPHA:36386
51062	ATL1	HP:0003828	Variable expressivity	-	OMIM:182600
51062	ATL1	HP:0003829	Typified by incomplete penetrance	-	OMIM:182600
51062	ATL1	HP:0000020	Urinary incontinence	-	OMIM:182600
51062	ATL1	HP:0001347	Hyperreflexia	-	OMIM:182600
51062	ATL1	HP:0001347	Hyperreflexia	-	OMIM:613708
51062	ATL1	HP:0007550	Hypohidrosis or hyperhidrosis	HP:0040282	ORPHA:36386
51062	ATL1	HP:0007460	Autoamputation of digits	-	OMIM:613708
51062	ATL1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:36386
51062	ATL1	HP:0000012	Urinary urgency	HP:0040283	ORPHA:100984
51062	ATL1	HP:0000012	Urinary urgency	-	OMIM:182600
51062	ATL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:182600
51062	ATL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613708
51062	ATL1	HP:0002650	Scoliosis	-	OMIM:182600
51062	ATL1	HP:0008944	Distal lower limb amyotrophy	HP:0040282	ORPHA:100984
51062	ATL1	HP:0008944	Distal lower limb amyotrophy	-	OMIM:613708
51062	ATL1	HP:0008944	Distal lower limb amyotrophy	-	OMIM:182600
51062	ATL1	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:36386
51062	ATL1	HP:0002754	Osteomyelitis	-	OMIM:613708
51062	ATL1	HP:0002754	Osteomyelitis	HP:0040283	ORPHA:36386
51062	ATL1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:36386
51062	ATL1	HP:0002067	Bradykinesia	HP:0040284	ORPHA:100984
51062	ATL1	HP:0002063	Rigidity	HP:0040284	ORPHA:100984
51062	ATL1	HP:0002064	Spastic gait	HP:0040282	ORPHA:100984
51062	ATL1	HP:0002064	Spastic gait	-	OMIM:182600
51062	ATL1	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:100984
51062	ATL1	HP:0002061	Lower limb spasticity	-	OMIM:182600
51062	ATL1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	OMIM:182600
51062	ATL1	HP:0003376	Steppage gait	HP:0040282	ORPHA:36386
51062	ATL1	HP:0003477	Peripheral axonal neuropathy	-	OMIM:613708
51062	ATL1	HP:0002141	Gait imbalance	HP:0040281	ORPHA:36386
51062	ATL1	HP:0003487	Babinski sign	-	OMIM:182600
51062	ATL1	HP:0003487	Babinski sign	HP:0040281	ORPHA:100984
51062	ATL1	HP:0003409	Distal sensory impairment of all modalities	-	OMIM:613708
51062	ATL1	HP:0002166	Impaired vibration sensation in the lower limbs	-	OMIM:182600
51062	ATL1	HP:0010550	Paraplegia	-	OMIM:182600
51062	ATL1	HP:0003401	Paresthesia	-	OMIM:613708
51062	ATL1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040281	ORPHA:36386
51062	ATL1	HP:0003587	Insidious onset	-	OMIM:182600
51062	ATL1	HP:0008404	Nail dystrophy	-	OMIM:613708
51062	ATL1	HP:0007021	Pain insensitivity	HP:0040282	ORPHA:36386
51062	ATL1	HP:0007002	Motor axonal neuropathy	HP:0040283	ORPHA:36386
51062	ATL1	HP:0007078	Decreased amplitude of sensory action potentials	HP:0040281	ORPHA:36386
51062	ATL1	HP:0001058	Poor wound healing	HP:0040282	ORPHA:36386
51062	ATL1	HP:0002395	Lower limb hyperreflexia	HP:0040281	ORPHA:100984
51062	ATL1	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:36386
51062	ATL1	HP:0002359	Frequent falls	HP:0040284	ORPHA:100984
51062	ATL1	HP:0001026	Penetrating foot ulcers	HP:0040282	ORPHA:36386
51062	ATL1	HP:0003676	Progressive	-	OMIM:613708
51062	ATL1	HP:0002314	Degeneration of the lateral corticospinal tracts	-	OMIM:182600
51062	ATL1	HP:0010834	Trophic changes related to pain	HP:0040282	ORPHA:36386
51062	ATL1	HP:0010829	Impaired temperature sensation	HP:0040282	ORPHA:36386
51062	ATL1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:100984
51062	ATL1	HP:0009830	Peripheral neuropathy	-	OMIM:613708
51062	ATL1	HP:0200042	Skin ulcer	HP:0040282	ORPHA:36386
51062	ATL1	HP:0009763	Limb pain	HP:0040282	ORPHA:36386
51062	ATL1	HP:0003621	Juvenile onset	-	OMIM:182600
51062	ATL1	HP:0006895	Lower limb hypertonia	HP:0040284	ORPHA:100984
51062	ATL1	HP:0009053	Distal lower limb muscle weakness	HP:0040281	ORPHA:100984
51062	ATL1	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:36386
51062	ATL1	HP:0006937	Impaired distal tactile sensation	HP:0040282	ORPHA:36386
51062	ATL1	HP:0012735	Cough	HP:0040283	ORPHA:36386
51062	ATL1	HP:0011462	Young adult onset	-	OMIM:613708
51062	ATL1	HP:0011448	Ankle clonus	HP:0040282	ORPHA:100984
51062	ATL1	HP:0100287	EMG: slow motor conduction	HP:0040283	ORPHA:36386
51062	ATL1	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:36386
51062	ATL1	HP:0002821	Neuropathic arthropathy	HP:0040283	ORPHA:36386
51062	ATL1	HP:0002839	Urinary bladder sphincter dysfunction	-	OMIM:182600
51062	ATL1	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:100984
51062	ATL1	HP:0001510	Growth delay	HP:0040284	ORPHA:100984
51062	ATL1	HP:0002936	Distal sensory impairment	HP:0040281	ORPHA:36386
51062	ATL1	HP:0002936	Distal sensory impairment	-	OMIM:613708
51062	ATL1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:36386
51062	ATL1	HP:0001761	Pes cavus	-	OMIM:182600
51062	ATL1	HP:0001761	Pes cavus	-	OMIM:613708
51067	YARS2	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2598
51067	YARS2	HP:0003700	Generalized amyotrophy	-	OMIM:613561
51067	YARS2	HP:0001270	Motor delay	1/3	OMIM:613561
51067	YARS2	HP:0001254	Lethargy	2/3	OMIM:613561
51067	YARS2	HP:0001252	Hypotonia	HP:0040281	ORPHA:2598
51067	YARS2	HP:0001252	Hypotonia	1/3	OMIM:613561
51067	YARS2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2598
51067	YARS2	HP:0001324	Muscle weakness	2/3	OMIM:613561
51067	YARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613561
51067	YARS2	HP:0002650	Scoliosis	HP:0040282	ORPHA:2598
51067	YARS2	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:613561
51067	YARS2	HP:0002015	Dysphagia	2/3	OMIM:613561
51067	YARS2	HP:0002098	Respiratory distress	1/3	OMIM:613561
51067	YARS2	HP:0002151	Increased circulating lactate concentration	3/3	OMIM:613561
51067	YARS2	HP:0003457	EMG abnormality	HP:0040281	ORPHA:2598
51067	YARS2	HP:0011924	Decreased activity of mitochondrial complex III	1/1	OMIM:613561
51067	YARS2	HP:0011923	Decreased activity of mitochondrial complex I	3/3	OMIM:613561
51067	YARS2	HP:0003593	Infantile onset	3/3	OMIM:613561
51067	YARS2	HP:0002240	Hepatomegaly	HP:0040283	OMIM:613561
51067	YARS2	HP:0003546	Exercise intolerance	1/3	OMIM:613561
51067	YARS2	HP:0009743	Distichiasis	HP:0040281	ORPHA:2598
51067	YARS2	HP:0008347	Decreased activity of mitochondrial complex IV	3/3	OMIM:613561
51067	YARS2	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1/1	OMIM:613561
51067	YARS2	HP:0003676	Progressive	-	OMIM:613561
51067	YARS2	HP:0000639	Nystagmus	-	OMIM:613561
51067	YARS2	HP:0001924	Sideroblastic anemia	3/3	OMIM:613561
51067	YARS2	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:2598
51067	YARS2	HP:0001903	Anemia	HP:0040281	ORPHA:2598
51067	YARS2	HP:0009055	Generalized limb muscle atrophy	HP:0040281	ORPHA:2598
51067	YARS2	HP:0003198	Myopathy	HP:0040281	ORPHA:2598
51067	YARS2	HP:0003196	Short nose	HP:0040282	ORPHA:2598
51067	YARS2	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2598
51067	YARS2	HP:0003128	Lactic acidosis	3/3	OMIM:613561
51067	YARS2	HP:0000823	Delayed puberty	HP:0040282	ORPHA:2598
51067	YARS2	HP:0003200	Ragged-red muscle fibers	1/1	OMIM:613561
51067	YARS2	HP:0000980	Pallor	1/3	OMIM:613561
51067	YARS2	HP:0002808	Kyphosis	HP:0040282	ORPHA:2598
51067	YARS2	HP:0000252	Microcephaly	HP:0040282	ORPHA:2598
51067	YARS2	HP:0000218	High palate	HP:0040281	ORPHA:2598
51067	YARS2	HP:0001508	Failure to thrive	1/3	OMIM:613561
51067	YARS2	HP:0001510	Growth delay	-	OMIM:613561
51067	YARS2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	OMIM:613561
51067	YARS2	HP:0000343	Long philtrum	HP:0040281	ORPHA:2598
51067	YARS2	HP:0000347	Micrognathia	HP:0040281	ORPHA:2598
51067	YARS2	HP:0001639	Hypertrophic cardiomyopathy	1/3	OMIM:613561
51067	YARS2	HP:0000486	Strabismus	-	OMIM:613561
51067	YARS2	HP:0000508	Ptosis	-	OMIM:613561
51067	YARS2	HP:0000501	Glaucoma	HP:0040282	ORPHA:2598
51075	TMX2	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	8/8	OMIM:618730
51075	TMX2	HP:0010864	Intellectual disability, severe	8/8	OMIM:618730
51075	TMX2	HP:0001276	Hypertonia	8/8	OMIM:618730
51075	TMX2	HP:0001272	Cerebellar atrophy	3/6	OMIM:618730
51075	TMX2	HP:0001250	Seizure	12/14	OMIM:618730
51075	TMX2	HP:0001263	Global developmental delay	22/22	OMIM:618730
51075	TMX2	HP:0002510	Spastic tetraplegia	8/8	OMIM:618730
51075	TMX2	HP:0001347	Hyperreflexia	8/8	OMIM:618730
51075	TMX2	HP:0001339	Lissencephaly	6/6	OMIM:618730
51075	TMX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618730
51075	TMX2	HP:0001302	Pachygyria	2/13	OMIM:618730
51075	TMX2	HP:0002079	Hypoplasia of the corpus callosum	6/6	OMIM:618730
51075	TMX2	HP:0002059	Cerebral atrophy	4/13	OMIM:618730
51075	TMX2	HP:0002119	Ventriculomegaly	6/6	OMIM:618730
51075	TMX2	HP:0002126	Polymicrogyria	5/13	OMIM:618730
51075	TMX2	HP:0003593	Infantile onset	-	OMIM:618730
51075	TMX2	HP:0002365	Hypoplasia of the brainstem	3/6	OMIM:618730
51075	TMX2	HP:0000252	Microcephaly	19/21	OMIM:618730
51075	TMX2	HP:0012430	Cerebral white matter hypoplasia	-	OMIM:618730
51079	NDUFA13	HP:0002465	Poor speech	-	OMIM:618249
51079	NDUFA13	HP:0001138	Optic neuropathy	-	OMIM:618249
51079	NDUFA13	HP:0007256	Abnormal pyramidal sign	2/2	OMIM:618249
51079	NDUFA13	HP:0002421	Poor head control	1/2	OMIM:618249
51079	NDUFA13	HP:0001272	Cerebellar atrophy	1/2	OMIM:618249
51079	NDUFA13	HP:0001266	Choreoathetosis	1/2	OMIM:618249
51079	NDUFA13	HP:0001263	Global developmental delay	2/2	OMIM:618249
51079	NDUFA13	HP:0000007	Autosomal recessive inheritance	-	OMIM:618249
51079	NDUFA13	HP:0008936	Axial hypotonia	2/2	OMIM:618249
51079	NDUFA13	HP:0002020	Gastroesophageal reflux	1/2	OMIM:618249
51079	NDUFA13	HP:0003348	Hyperalaninemia	1/1	OMIM:618249
51079	NDUFA13	HP:0002061	Lower limb spasticity	1/2	OMIM:618249
51079	NDUFA13	HP:0002078	Truncal ataxia	1/2	OMIM:618249
51079	NDUFA13	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:618249
51079	NDUFA13	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:618249
51079	NDUFA13	HP:0002197	Generalized-onset seizure	1/2	OMIM:618249
51079	NDUFA13	HP:0003593	Infantile onset	2/2	OMIM:618249
51079	NDUFA13	HP:0003677	Slowly progressive	-	OMIM:618249
51079	NDUFA13	HP:0100660	Dyskinesia	1/2	OMIM:618249
51079	NDUFA13	HP:0002304	Akinesia	1/2	OMIM:618249
51079	NDUFA13	HP:0000648	Optic atrophy	2/2	OMIM:618249
51079	NDUFA13	HP:0000817	Reduced eye contact	1/2	OMIM:618249
51079	NDUFA13	HP:0001508	Failure to thrive	1/2	OMIM:618249
51079	NDUFA13	HP:0000365	Hearing impairment	2/2	OMIM:618249
51079	NDUFA13	HP:0000514	Slow saccadic eye movements	1/2	OMIM:618249
51079	NDUFA13	HP:0000543	Optic disc pallor	2/2	OMIM:618249
51081	MRPS7	HP:0001397	Hepatic steatosis	2/2	OMIM:617872
51081	MRPS7	HP:0001399	Hepatic failure	1/2	OMIM:617872
51081	MRPS7	HP:0000007	Autosomal recessive inheritance	-	OMIM:617872
51081	MRPS7	HP:0002013	Vomiting	1/2	OMIM:617872
51081	MRPS7	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:617872
51081	MRPS7	HP:0008207	Primary adrenal insufficiency	1/2	OMIM:617872
51081	MRPS7	HP:0003593	Infantile onset	1/2	OMIM:617872
51081	MRPS7	HP:0002240	Hepatomegaly	1/2	OMIM:617872
51081	MRPS7	HP:0008527	Congenital sensorineural hearing impairment	2/2	OMIM:617872
51081	MRPS7	HP:0001943	Hypoglycemia	2/2	OMIM:617872
51081	MRPS7	HP:0001945	Fever	1/2	OMIM:617872
51081	MRPS7	HP:0011463	Childhood onset	1/2	OMIM:617872
51081	MRPS7	HP:0003128	Lactic acidosis	1/2	OMIM:617872
51081	MRPS7	HP:0003138	Increased blood urea nitrogen	1/2	OMIM:617872
51081	MRPS7	HP:0000815	Hypergonadotropic hypogonadism	1/2	OMIM:617872
51081	MRPS7	HP:0003259	Elevated circulating creatinine concentration	1/2	OMIM:617872
51081	MRPS7	HP:0001508	Failure to thrive	1/2	OMIM:617872
51081	MRPS7	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1/2	OMIM:617872
51081	MRPS7	HP:0001876	Pancytopenia	1/2	OMIM:617872
51082	POLR1D	HP:0009892	Anotia	1/4	OMIM:613717
51082	POLR1D	HP:0008551	Microtia	HP:0040282	ORPHA:861
51082	POLR1D	HP:0008551	Microtia	7/9	OMIM:613717
51082	POLR1D	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
51082	POLR1D	HP:0001293	Cranial nerve compression	-	OMIM:131300
51082	POLR1D	HP:0001270	Motor delay	1/7	OMIM:613717
51082	POLR1D	HP:0001252	Hypotonia	2/7	OMIM:615777
51082	POLR1D	HP:0001249	Intellectual disability	5/7	OMIM:615777
51082	POLR1D	HP:0001263	Global developmental delay	HP:0040283	ORPHA:861
51082	POLR1D	HP:0001263	Global developmental delay	-	OMIM:615777
51082	POLR1D	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:861
51082	POLR1D	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:861
51082	POLR1D	HP:0002515	Waddling gait	54/102	OMIM:131300
51082	POLR1D	HP:0000046	Small scrotum	HP:0040283	ORPHA:861
51082	POLR1D	HP:0001382	Joint hypermobility	-	OMIM:615777
51082	POLR1D	HP:0002694	Sclerosis of skull base	-	OMIM:131300
51082	POLR1D	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:861
51082	POLR1D	HP:0008897	Postnatal growth retardation	-	OMIM:615777
51082	POLR1D	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:861
51082	POLR1D	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
51082	POLR1D	HP:0001324	Muscle weakness	40/96	OMIM:131300
51082	POLR1D	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
51082	POLR1D	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
51082	POLR1D	HP:0000007	Autosomal recessive inheritance	-	OMIM:613717
51082	POLR1D	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
51082	POLR1D	HP:0000006	Autosomal dominant inheritance	-	OMIM:613717
51082	POLR1D	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:861
51082	POLR1D	HP:0002650	Scoliosis	12/14	OMIM:131300
51082	POLR1D	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
51082	POLR1D	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
51082	POLR1D	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
51082	POLR1D	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
51082	POLR1D	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:861
51082	POLR1D	HP:0000160	Narrow mouth	HP:0040283	ORPHA:861
51082	POLR1D	HP:0000162	Glossoptosis	HP:0040283	ORPHA:861
51082	POLR1D	HP:0000175	Cleft palate	HP:0040283	ORPHA:861
51082	POLR1D	HP:0000175	Cleft palate	4/13	OMIM:613717
51082	POLR1D	HP:0000175	Cleft palate	2/7	OMIM:615777
51082	POLR1D	HP:0000143	Rectovaginal fistula	HP:0040283	ORPHA:861
51082	POLR1D	HP:0000154	Wide mouth	HP:0040283	ORPHA:861
51082	POLR1D	HP:0005990	Thyroid hypoplasia	HP:0040283	ORPHA:861
51082	POLR1D	HP:0002007	Frontal bossing	HP:0040282	ORPHA:861
51082	POLR1D	HP:0002006	Tessier cleft	HP:0040283	ORPHA:861
51082	POLR1D	HP:0011800	Midface retrusion	HP:0040281	ORPHA:861
51082	POLR1D	HP:0002084	Encephalocele	HP:0040283	ORPHA:861
51082	POLR1D	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:861
51082	POLR1D	HP:0003388	Easy fatigability	36/76	OMIM:131300
51082	POLR1D	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
51082	POLR1D	HP:0009554	Preauricular hair displacement	HP:0040283	ORPHA:861
51082	POLR1D	HP:0003577	Congenital onset	2/4	OMIM:613717
51082	POLR1D	HP:0010669	Hypoplasia of the zygomatic bone	5/8	OMIM:613717
51082	POLR1D	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040281	ORPHA:861
51082	POLR1D	HP:0003510	Severe short stature	7/7	OMIM:615777
51082	POLR1D	HP:0002381	Aphasia	HP:0040283	ORPHA:861
51082	POLR1D	HP:0002315	Headache	-	OMIM:131300
51082	POLR1D	HP:0004976	Knee dislocation	6/7	OMIM:615777
51082	POLR1D	HP:0010807	Open bite	HP:0040281	ORPHA:861
51082	POLR1D	HP:0009804	Tooth agenesis	HP:0040282	ORPHA:861
51082	POLR1D	HP:0009803	Short phalanx of finger	-	OMIM:615777
51082	POLR1D	HP:0009795	Branchial fistula	HP:0040283	ORPHA:861
51082	POLR1D	HP:0009763	Limb pain	63/92	OMIM:131300
51082	POLR1D	HP:0003621	Juvenile onset	-	OMIM:131300
51082	POLR1D	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
51082	POLR1D	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
51082	POLR1D	HP:6001056	Out-toeing	-	OMIM:131300
51082	POLR1D	HP:0000651	Diplopia	-	OMIM:131300
51082	POLR1D	HP:0000643	Blepharospasm	HP:0040283	ORPHA:861
51082	POLR1D	HP:0000612	Iris coloboma	HP:0040282	ORPHA:861
51082	POLR1D	HP:0000625	Eyelid coloboma	HP:0040282	ORPHA:861
51082	POLR1D	HP:0001956	Truncal obesity	2/7	OMIM:615777
51082	POLR1D	HP:0001903	Anemia	HP:0040283	OMIM:131300
51082	POLR1D	HP:0010049	Short metacarpal	-	OMIM:615777
51082	POLR1D	HP:0011386	Narrow internal auditory canal	HP:0040282	ORPHA:861
51082	POLR1D	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:861
51082	POLR1D	HP:0000678	Dental crowding	-	OMIM:615777
51082	POLR1D	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:861
51082	POLR1D	HP:0000652	Lower eyelid coloboma	3/8	OMIM:613717
51082	POLR1D	HP:0000670	Carious teeth	-	OMIM:131300
51082	POLR1D	HP:0011304	Broad thumb	2/7	OMIM:615777
51082	POLR1D	HP:0000668	Hypodontia	-	OMIM:615777
51082	POLR1D	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:861
51082	POLR1D	HP:0000664	Synophrys	-	OMIM:615777
51082	POLR1D	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:861
51082	POLR1D	HP:0004396	Poor appetite	-	OMIM:131300
51082	POLR1D	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
51082	POLR1D	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
51082	POLR1D	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
51082	POLR1D	HP:0003026	Short long bone	7/7	OMIM:615777
51082	POLR1D	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
51082	POLR1D	HP:0004348	Abnormality of bone mineral density	HP:0040281	ORPHA:861
51082	POLR1D	HP:0000767	Pectus excavatum	2/7	OMIM:615777
51082	POLR1D	HP:0000768	Pectus carinatum	1/7	OMIM:615777
51082	POLR1D	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
51082	POLR1D	HP:0000750	Delayed speech and language development	2/7	OMIM:613717
51082	POLR1D	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:861
51082	POLR1D	HP:0000750	Delayed speech and language development	-	OMIM:615777
51082	POLR1D	HP:0011481	Abnormal lacrimal duct morphology	HP:0040283	ORPHA:861
51082	POLR1D	HP:0011461	Fetal onset	7/7	OMIM:615777
51082	POLR1D	HP:0000778	Hypoplasia of the thymus	HP:0040283	ORPHA:861
51082	POLR1D	HP:0000774	Narrow chest	2/7	OMIM:615777
51082	POLR1D	HP:0005701	Multiple enchondromatosis	HP:0040283	ORPHA:861
51082	POLR1D	HP:0000925	Abnormality of the vertebral column	HP:0040283	ORPHA:861
51082	POLR1D	HP:0000926	Platyspondyly	1/7	OMIM:615777
51082	POLR1D	HP:0003180	Flat acetabular roof	-	OMIM:615777
51082	POLR1D	HP:0004482	Relative macrocephaly	-	OMIM:615777
51082	POLR1D	HP:0004467	Preauricular pit	1/4	OMIM:613717
51082	POLR1D	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
51082	POLR1D	HP:0000834	Abnormality of the adrenal glands	HP:0040283	ORPHA:861
51082	POLR1D	HP:0000823	Delayed puberty	-	OMIM:131300
51082	POLR1D	HP:0000894	Short clavicles	-	OMIM:615777
51082	POLR1D	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
51082	POLR1D	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
51082	POLR1D	HP:0000286	Epicanthus	1/7	OMIM:615777
51082	POLR1D	HP:0000280	Coarse facial features	2/7	OMIM:615777
51082	POLR1D	HP:0000278	Retrognathia	HP:0040281	ORPHA:861
51082	POLR1D	HP:0000278	Retrognathia	1/4	OMIM:613717
51082	POLR1D	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:861
51082	POLR1D	HP:0000272	Malar flattening	HP:0040281	ORPHA:861
51082	POLR1D	HP:0000272	Malar flattening	3/4	OMIM:613717
51082	POLR1D	HP:0002827	Hip dislocation	3/7	OMIM:615777
51082	POLR1D	HP:0000252	Microcephaly	-	OMIM:615777
51082	POLR1D	HP:0000248	Brachycephaly	HP:0040283	ORPHA:861
51082	POLR1D	HP:0000218	High palate	HP:0040283	ORPHA:861
51082	POLR1D	HP:0002857	Genu valgum	-	OMIM:131300
51082	POLR1D	HP:0001533	Slender build	-	OMIM:131300
51082	POLR1D	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:861
51082	POLR1D	HP:0001508	Failure to thrive	HP:0040283	ORPHA:861
51082	POLR1D	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
51082	POLR1D	HP:0007807	Optic nerve compression	-	OMIM:131300
51082	POLR1D	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:861
51082	POLR1D	HP:0012368	Flat face	7/7	OMIM:615777
51082	POLR1D	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
51082	POLR1D	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:861
51082	POLR1D	HP:0000365	Hearing impairment	10/67	OMIM:131300
51082	POLR1D	HP:0000356	Abnormality of the outer ear	HP:0040282	ORPHA:861
51082	POLR1D	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:861
51082	POLR1D	HP:0000370	Abnormality of the middle ear	HP:0040282	ORPHA:861
51082	POLR1D	HP:0000343	Long philtrum	1/7	OMIM:615777
51082	POLR1D	HP:0011001	Increased bone mineral density	-	OMIM:131300
51082	POLR1D	HP:0000347	Micrognathia	11/13	OMIM:613717
51082	POLR1D	HP:0000347	Micrognathia	HP:0040281	ORPHA:861
51082	POLR1D	HP:0000316	Hypertelorism	HP:0040283	ORPHA:861
51082	POLR1D	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:861
51082	POLR1D	HP:0000311	Round face	2/7	OMIM:615777
51082	POLR1D	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:861
51082	POLR1D	HP:0002970	Genu varum	-	OMIM:615777
51082	POLR1D	HP:0000308	Microretrognathia	2/4	OMIM:613717
51082	POLR1D	HP:0000303	Mandibular prognathia	-	OMIM:131300
51082	POLR1D	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:861
51082	POLR1D	HP:0000405	Conductive hearing impairment	8/12	OMIM:613717
51082	POLR1D	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
51082	POLR1D	HP:0000486	Strabismus	HP:0040282	ORPHA:861
51082	POLR1D	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:861
51082	POLR1D	HP:0000494	Downslanted palpebral fissures	9/12	OMIM:613717
51082	POLR1D	HP:0000470	Short neck	1/7	OMIM:615777
51082	POLR1D	HP:0001769	Broad foot	HP:0040283	OMIM:615777
51082	POLR1D	HP:0001763	Pes planus	1/7	OMIM:615777
51082	POLR1D	HP:0000453	Choanal atresia	HP:0040283	ORPHA:861
51082	POLR1D	HP:0000453	Choanal atresia	1/5	OMIM:613717
51082	POLR1D	HP:0000452	Choanal stenosis	1/5	OMIM:613717
51082	POLR1D	HP:0000413	Atresia of the external auditory canal	HP:0040282	ORPHA:861
51082	POLR1D	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:861
51082	POLR1D	HP:0005473	Fusion of middle ear ossicles	1/4	OMIM:613717
51082	POLR1D	HP:0000518	Cataract	HP:0040283	ORPHA:861
51082	POLR1D	HP:0001840	Metatarsus adductus	-	OMIM:615777
51082	POLR1D	HP:0000520	Proptosis	2/4	OMIM:131300
51082	POLR1D	HP:0000520	Proptosis	7/7	OMIM:615777
51082	POLR1D	HP:0000505	Visual impairment	HP:0040282	ORPHA:861
51082	POLR1D	HP:0000592	Blue sclerae	2/7	OMIM:615777
51082	POLR1D	HP:0000561	Absent eyelashes	HP:0040282	ORPHA:861
51082	POLR1D	HP:0011219	Short face	HP:0040281	ORPHA:861
51082	POLR1D	HP:0000568	Microphthalmia	HP:0040283	ORPHA:861
51082	POLR1D	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
51082	POLR1D	HP:0012514	Lower limb pain	4/4	OMIM:131300
51083	GAL	HP:0007334	Bilateral tonic-clonic seizure with focal onset	2/2	OMIM:616461
51083	GAL	HP:0012005	Deja vu aura	2/2	OMIM:616461
51083	GAL	HP:0000006	Autosomal dominant inheritance	-	OMIM:616461
51083	GAL	HP:0002384	Focal impaired awareness seizure	2/2	OMIM:616461
51083	GAL	HP:0003621	Juvenile onset	2/2	OMIM:616461
51083	GAL	HP:0032705	Focal aware cognitive seizure with forced thinking	1/2	OMIM:616461
51083	GAL	HP:0032864	Focal aware sensory seizure with auditory features	1/2	OMIM:616461
51083	GAL	HP:0032785	Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	1/2	OMIM:616461
51085	MLXIPL	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	OMIM:194050
51085	MLXIPL	HP:0001297	Stroke	HP:0040284	OMIM:194050
51085	MLXIPL	HP:0001290	Generalized hypotonia	-	OMIM:194050
51085	MLXIPL	HP:0001252	Hypotonia	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0001249	Intellectual disability	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0008770	Obsessive-compulsive trait	-	OMIM:194050
51085	MLXIPL	HP:0008661	Urethral stenosis	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000089	Renal hypoplasia	-	OMIM:194050
51085	MLXIPL	HP:0000083	Renal insufficiency	-	OMIM:194050
51085	MLXIPL	HP:0000076	Vesicoureteral reflux	-	OMIM:194050
51085	MLXIPL	HP:0001371	Flexion contracture	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000054	Micropenis	HP:0040283	OMIM:194050
51085	MLXIPL	HP:0001382	Joint hypermobility	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000023	Inguinal hernia	HP:0040283	OMIM:194050
51085	MLXIPL	HP:0000015	Bladder diverticulum	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0001347	Hyperreflexia	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0008872	Feeding difficulties in infancy	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000010	Recurrent urinary tract infections	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000006	Autosomal dominant inheritance	-	OMIM:194050
51085	MLXIPL	HP:0001321	Cerebellar hypoplasia	15%	OMIM:194050
51085	MLXIPL	HP:0002608	Celiac disease	HP:0040283	OMIM:194050
51085	MLXIPL	HP:0000179	Thick lower lip vermilion	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000194	Open mouth	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000121	Nephrocalcinosis	10%	OMIM:194050
51085	MLXIPL	HP:0000125	Pelvic kidney	-	OMIM:194050
51085	MLXIPL	HP:0001409	Portal hypertension	HP:0040283	OMIM:194050
51085	MLXIPL	HP:0002751	Kyphoscoliosis	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0002020	Gastroesophageal reflux	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0002019	Constipation	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0002035	Rectal prolapse	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0011800	Midface retrusion	-	OMIM:194050
51085	MLXIPL	HP:0002141	Gait imbalance	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0002150	Hypercalciuria	30%	OMIM:194050
51085	MLXIPL	HP:0004764	Myxomatous mitral valve degeneration	20%	OMIM:194050
51085	MLXIPL	HP:0002183	Phonophobia	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0002253	Colonic diverticula	30%	OMIM:194050
51085	MLXIPL	HP:0002216	Premature graying of hair	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0009748	Large earlobe	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0007099	Chiari type I malformation	10%	OMIM:194050
51085	MLXIPL	HP:0002360	Sleep abnormality	HP:0040283	OMIM:194050
51085	MLXIPL	HP:0002370	Poor coordination	-	OMIM:194050
51085	MLXIPL	HP:0200021	Down-sloping shoulders	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0010780	Hyperacusis	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0010747	Medial flaring of the eyebrow	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0002311	Incoordination	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	OMIM:194050
51085	MLXIPL	HP:0000635	Blue irides	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000646	Amblyopia	HP:0040283	OMIM:194050
51085	MLXIPL	HP:0000629	Periorbital fullness	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0001952	Glucose intolerance	-	OMIM:194050
51085	MLXIPL	HP:0001920	Renal artery stenosis	HP:0040283	OMIM:194050
51085	MLXIPL	HP:0000601	Hypotelorism	HP:0040283	OMIM:194050
51085	MLXIPL	HP:0000691	Microdontia	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000689	Dental malocclusion	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000668	Hypodontia	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0004322	Short stature	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0003072	Hypercalcemia	15%	OMIM:194050
51085	MLXIPL	HP:0000805	Enuresis	-	OMIM:194050
51085	MLXIPL	HP:0004381	Supravalvular aortic stenosis	75%	OMIM:194050
51085	MLXIPL	HP:0000767	Pectus excavatum	HP:0040283	OMIM:194050
51085	MLXIPL	HP:0000739	Anxiety	80%	OMIM:194050
51085	MLXIPL	HP:0000736	Short attention span	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0100000	Early onset of sexual maturation	50%	OMIM:194050
51085	MLXIPL	HP:0000708	Atypical behavior	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0003196	Short nose	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000819	Diabetes mellitus	75%	OMIM:194050
51085	MLXIPL	HP:0000822	Hypertension	50%	OMIM:194050
51085	MLXIPL	HP:0000821	Hypothyroidism	10%	OMIM:194050
51085	MLXIPL	HP:0000977	Soft skin	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000973	Cutis laxa	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000939	Osteoporosis	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000938	Osteopenia	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000286	Epicanthus	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000293	Full cheeks	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000272	Malar flattening	HP:0040283	OMIM:194050
51085	MLXIPL	HP:0005145	Coronary artery stenosis	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0012210	Abnormal renal morphology	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0001531	Failure to thrive in infancy	70%	OMIM:194050
51085	MLXIPL	HP:0001537	Umbilical hernia	HP:0040283	OMIM:194050
51085	MLXIPL	HP:0001511	Intrauterine growth retardation	-	OMIM:194050
51085	MLXIPL	HP:0001513	Obesity	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0001609	Hoarse voice	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0001605	Vocal cord paralysis	HP:0040283	OMIM:194050
51085	MLXIPL	HP:0001699	Sudden death	HP:0040284	OMIM:194050
51085	MLXIPL	HP:0000341	Narrow forehead	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000343	Long philtrum	10/20	OMIM:194050
51085	MLXIPL	HP:0001647	Bicuspid aortic valve	-	OMIM:194050
51085	MLXIPL	HP:0001642	Pulmonic stenosis	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0002974	Radioulnar synostosis	HP:0040283	OMIM:194050
51085	MLXIPL	HP:0001653	Mitral regurgitation	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0001629	Ventricular septal defect	HP:0040283	OMIM:194050
51085	MLXIPL	HP:0001631	Atrial septal defect	HP:0040283	OMIM:194050
51085	MLXIPL	HP:0001634	Mitral valve prolapse	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000407	Sensorineural hearing impairment	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000403	Recurrent otitis media	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0005280	Depressed nasal bridge	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000486	Strabismus	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0001792	Small nail	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000463	Anteverted nares	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0012450	Chronic constipation	-	OMIM:194050
51085	MLXIPL	HP:0000455	Broad nasal tip	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0001822	Hallux valgus	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0000581	Blepharophimosis	HP:0040282	OMIM:194050
51085	MLXIPL	HP:0012537	Food intolerance	-	OMIM:194050
51085	MLXIPL	HP:0000539	Abnormality of refraction	HP:0040283	OMIM:194050
51086	TNNI3K	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
51086	TNNI3K	HP:0000006	Autosomal dominant inheritance	-	OMIM:616117
51086	TNNI3K	HP:0011711	Left anterior fascicular block	-	OMIM:616117
51086	TNNI3K	HP:0011712	Complete right bundle branch block	-	OMIM:616117
51086	TNNI3K	HP:0004763	Paroxysmal supraventricular tachycardia	-	OMIM:616117
51086	TNNI3K	HP:0004749	Atrial flutter	-	OMIM:616117
51086	TNNI3K	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
51086	TNNI3K	HP:0005110	Atrial fibrillation	-	OMIM:616117
51086	TNNI3K	HP:0005184	Prolonged QTc interval	-	OMIM:616117
51086	TNNI3K	HP:0001695	Cardiac arrest	HP:0040284	OMIM:616117
51086	TNNI3K	HP:0001692	Atrial arrhythmia	-	OMIM:616117
51086	TNNI3K	HP:0001688	Sinus bradycardia	-	OMIM:616117
51086	TNNI3K	HP:0001664	Torsade de pointes	1/46	OMIM:115000
51086	TNNI3K	HP:0001649	Tachycardia	-	OMIM:616117
51086	TNNI3K	HP:0001645	Sudden cardiac death	-	OMIM:115000
51086	TNNI3K	HP:0001644	Dilated cardiomyopathy	-	OMIM:616117
51086	TNNI3K	HP:0001663	Ventricular fibrillation	-	OMIM:115000
51086	TNNI3K	HP:0001635	Congestive heart failure	HP:0040283	OMIM:616117
51086	TNNI3K	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
51086	TNNI3K	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
51086	TNNI3K	HP:0006682	Premature ventricular contraction	-	OMIM:616117
51091	SEPSECS	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040283	ORPHA:2524
51091	SEPSECS	HP:0001272	Cerebellar atrophy	-	OMIM:613811
51091	SEPSECS	HP:0001270	Motor delay	HP:0040282	ORPHA:2524
51091	SEPSECS	HP:0001250	Seizure	3/3	OMIM:613811
51091	SEPSECS	HP:0001250	Seizure	HP:0040281	ORPHA:2524
51091	SEPSECS	HP:0001266	Choreoathetosis	HP:0040281	ORPHA:2524
51091	SEPSECS	HP:0001263	Global developmental delay	3/3	OMIM:613811
51091	SEPSECS	HP:0001257	Spasticity	HP:0040283	ORPHA:2524
51091	SEPSECS	HP:0002536	Abnormal cortical gyration	HP:0040283	ORPHA:2524
51091	SEPSECS	HP:0002518	Abnormal periventricular white matter morphology	-	OMIM:613811
51091	SEPSECS	HP:0002510	Spastic tetraplegia	-	OMIM:613811
51091	SEPSECS	HP:0031162	Impaired oropharyngeal swallow response	HP:0040281	ORPHA:2524
51091	SEPSECS	HP:0000007	Autosomal recessive inheritance	-	OMIM:613811
51091	SEPSECS	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:2524
51091	SEPSECS	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:2524
51091	SEPSECS	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:2524
51091	SEPSECS	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:2524
51091	SEPSECS	HP:0007598	Bilateral single transverse palmar creases	HP:0040283	ORPHA:2524
51091	SEPSECS	HP:0002719	Recurrent infections	HP:0040282	ORPHA:2524
51091	SEPSECS	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2524
51091	SEPSECS	HP:0002033	Poor suck	HP:0040282	ORPHA:2524
51091	SEPSECS	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:613811
51091	SEPSECS	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2524
51091	SEPSECS	HP:0002072	Chorea	-	OMIM:613811
51091	SEPSECS	HP:0002059	Cerebral atrophy	-	OMIM:613811
51091	SEPSECS	HP:0003487	Babinski sign	HP:0040283	ORPHA:2524
51091	SEPSECS	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:2524
51091	SEPSECS	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:2524
51091	SEPSECS	HP:0002104	Apnea	HP:0040282	ORPHA:2524
51091	SEPSECS	HP:0002187	Intellectual disability, profound	-	OMIM:613811
51091	SEPSECS	HP:0002169	Clonus	-	OMIM:613811
51091	SEPSECS	HP:0002268	Paroxysmal dystonia	HP:0040282	ORPHA:2524
51091	SEPSECS	HP:0003593	Infantile onset	-	OMIM:613811
51091	SEPSECS	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:2524
51091	SEPSECS	HP:0003558	Viral infection-induced rhabdomyolysis	HP:0040283	ORPHA:2524
51091	SEPSECS	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:2524
51091	SEPSECS	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:2524
51091	SEPSECS	HP:0002365	Hypoplasia of the brainstem	HP:0040282	ORPHA:2524
51091	SEPSECS	HP:0002360	Sleep abnormality	-	OMIM:613811
51091	SEPSECS	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:2524
51091	SEPSECS	HP:0002350	Cerebellar cyst	HP:0040284	ORPHA:2524
51091	SEPSECS	HP:0200049	Upper limb hypertonia	HP:0040283	ORPHA:2524
51091	SEPSECS	HP:0006850	Hypoplasia of the ventral pons	HP:0040281	ORPHA:2524
51091	SEPSECS	HP:0006855	Cerebellar vermis atrophy	3/3	OMIM:613811
51091	SEPSECS	HP:0006895	Lower limb hypertonia	HP:0040283	ORPHA:2524
51091	SEPSECS	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:2524
51091	SEPSECS	HP:0001999	Abnormal facial shape	-	ORPHA:2524
51091	SEPSECS	HP:0006989	Dysplastic corpus callosum	HP:0040283	ORPHA:2524
51091	SEPSECS	HP:0000737	Irritability	-	OMIM:613811
51091	SEPSECS	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:2524
51091	SEPSECS	HP:0012765	Widened cerebellar subarachnoid space	HP:0040283	ORPHA:2524
51091	SEPSECS	HP:0003121	Limb joint contracture	-	OMIM:613811
51091	SEPSECS	HP:0034353	Appendicular spasticity	3/3	OMIM:613811
51091	SEPSECS	HP:0000253	Progressive microcephaly	-	OMIM:613811
51091	SEPSECS	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:2524
51091	SEPSECS	HP:0033980	Paroxysmal tonic upgaze	3/3	OMIM:613811
51091	SEPSECS	HP:0000340	Sloping forehead	HP:0040282	ORPHA:2524
51091	SEPSECS	HP:0011171	Simple febrile seizure	HP:0040283	ORPHA:2524
51091	SEPSECS	HP:0012469	Infantile spasms	HP:0040282	ORPHA:2524
51091	SEPSECS	HP:0012448	Delayed myelination	-	OMIM:613811
51094	ADIPOR1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
51094	ADIPOR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
51094	ADIPOR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
51094	ADIPOR1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
51094	ADIPOR1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
51094	ADIPOR1	HP:0003621	Juvenile onset	8/19	OMIM:180100
51094	ADIPOR1	HP:0000662	Nyctalopia	26/28	OMIM:180100
51094	ADIPOR1	HP:0011463	Childhood onset	3/19	OMIM:180100
51094	ADIPOR1	HP:0011462	Young adult onset	8/19	OMIM:180100
51094	ADIPOR1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
51094	ADIPOR1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
51094	ADIPOR1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
51094	ADIPOR1	HP:0000575	Scotoma	5/18	OMIM:180100
51094	ADIPOR1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
51094	ADIPOR1	HP:0000545	Myopia	-	OMIM:180100
51095	TRNT1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
51095	TRNT1	HP:0001105	Retinal atrophy	3/3	OMIM:616959
51095	TRNT1	HP:0032231	Hypochromia	1/3	OMIM:616959
51095	TRNT1	HP:0001290	Generalized hypotonia	-	OMIM:616084
51095	TRNT1	HP:0001250	Seizure	5/12	OMIM:616084
51095	TRNT1	HP:0001252	Hypotonia	-	OMIM:616084
51095	TRNT1	HP:0001251	Ataxia	4/9	OMIM:616084
51095	TRNT1	HP:0001263	Global developmental delay	11/12	OMIM:616084
51095	TRNT1	HP:0010976	Decreased total B cell count	11/12	OMIM:616084
51095	TRNT1	HP:0032323	Periodic fever	-	OMIM:616084
51095	TRNT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
51095	TRNT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616959
51095	TRNT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616084
51095	TRNT1	HP:0001334	Communicating hydrocephalus	1/12	OMIM:616084
51095	TRNT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
51095	TRNT1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
51095	TRNT1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
51095	TRNT1	HP:0008936	Axial hypotonia	-	OMIM:616084
51095	TRNT1	HP:0000121	Nephrocalcinosis	3/7	OMIM:616084
51095	TRNT1	HP:0003355	Aminoaciduria	7/9	OMIM:616084
51095	TRNT1	HP:0040303	Decreased circulating iron concentration	-	OMIM:616959
51095	TRNT1	HP:0002059	Cerebral atrophy	4/12	OMIM:616084
51095	TRNT1	HP:0002188	Delayed CNS myelination	1/12	OMIM:616084
51095	TRNT1	HP:0002194	Delayed gross motor development	-	OMIM:616084
51095	TRNT1	HP:0003593	Infantile onset	6/12	OMIM:616084
51095	TRNT1	HP:0002299	Brittle hair	3/3	OMIM:616084
51095	TRNT1	HP:0004840	Hypochromic microcytic anemia	12/12	OMIM:616084
51095	TRNT1	HP:0025066	Decreased mean corpuscular volume	3/3	OMIM:616959
51095	TRNT1	HP:0200070	Peripheral retinal atrophy	2/3	OMIM:616959
51095	TRNT1	HP:0003623	Neonatal onset	5/12	OMIM:616084
51095	TRNT1	HP:0003621	Juvenile onset	8/19	OMIM:180100
51095	TRNT1	HP:0003621	Juvenile onset	1/3	OMIM:616959
51095	TRNT1	HP:0030529	Ring scotoma	-	OMIM:616959
51095	TRNT1	HP:0001981	Schistocytosis	-	OMIM:616084
51095	TRNT1	HP:0001924	Sideroblastic anemia	12/12	OMIM:616084
51095	TRNT1	HP:0001903	Anemia	-	OMIM:616959
51095	TRNT1	HP:0000662	Nyctalopia	26/28	OMIM:180100
51095	TRNT1	HP:0000662	Nyctalopia	3/3	OMIM:616959
51095	TRNT1	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:616084
51095	TRNT1	HP:0030609	Photoreceptor layer loss on macular OCT	3/3	OMIM:616959
51095	TRNT1	HP:0100014	Epiretinal membrane	-	OMIM:616959
51095	TRNT1	HP:0011463	Childhood onset	3/19	OMIM:180100
51095	TRNT1	HP:0011463	Childhood onset	1/3	OMIM:616959
51095	TRNT1	HP:0011463	Childhood onset	1/12	OMIM:616084
51095	TRNT1	HP:0011462	Young adult onset	8/19	OMIM:180100
51095	TRNT1	HP:0004445	Elliptocytosis	1/3	OMIM:616959
51095	TRNT1	HP:0004447	Poikilocytosis	1/3	OMIM:616959
51095	TRNT1	HP:0003128	Lactic acidosis	3/4	OMIM:616084
51095	TRNT1	HP:0040049	Macular edema	2/3	OMIM:616959
51095	TRNT1	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:616959
51095	TRNT1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
51095	TRNT1	HP:0007737	Bone spicule pigmentation of the retina	1/3	OMIM:616959
51095	TRNT1	HP:0001510	Growth delay	HP:0040283	OMIM:616084
51095	TRNT1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
51095	TRNT1	HP:0007843	Attenuation of retinal blood vessels	2/3	OMIM:616959
51095	TRNT1	HP:0001638	Cardiomyopathy	2/9	OMIM:616084
51095	TRNT1	HP:0000407	Sensorineural hearing impairment	5/11	OMIM:616084
51095	TRNT1	HP:0001744	Splenomegaly	4/11	OMIM:616084
51095	TRNT1	HP:0025709	Intermediate young adult onset	1/3	OMIM:616959
51095	TRNT1	HP:0025708	Early young adult onset	1/3	OMIM:616959
51095	TRNT1	HP:0011273	Anisocytosis	2/3	OMIM:616959
51095	TRNT1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
51095	TRNT1	HP:0000510	Rod-cone dystrophy	3/6	OMIM:616084
51095	TRNT1	HP:0000575	Scotoma	5/18	OMIM:180100
51095	TRNT1	HP:0001882	Decreased total leukocyte count	0/3	OMIM:616959
51095	TRNT1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
51095	TRNT1	HP:0000543	Optic disc pallor	2/3	OMIM:616959
51095	TRNT1	HP:0001873	Thrombocytopenia	0/3	OMIM:616959
51095	TRNT1	HP:0000545	Myopia	-	OMIM:180100
51095	TRNT1	HP:0000545	Myopia	-	OMIM:616959
51098	IFT52	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1515
51098	IFT52	HP:0001156	Brachydactyly	1/1	OMIM:617102
51098	IFT52	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:1515
51098	IFT52	HP:0009882	Short distal phalanx of finger	1/1	OMIM:617102
51098	IFT52	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
51098	IFT52	HP:0001293	Cranial nerve compression	-	OMIM:131300
51098	IFT52	HP:0001270	Motor delay	1/1	OMIM:617102
51098	IFT52	HP:0001252	Hypotonia	2/7	OMIM:615777
51098	IFT52	HP:0001249	Intellectual disability	5/7	OMIM:615777
51098	IFT52	HP:0001263	Global developmental delay	-	OMIM:615777
51098	IFT52	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1515
51098	IFT52	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:1515
51098	IFT52	HP:0002515	Waddling gait	54/102	OMIM:131300
51098	IFT52	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1515
51098	IFT52	HP:0001382	Joint hypermobility	-	OMIM:615777
51098	IFT52	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:1515
51098	IFT52	HP:0002694	Sclerosis of skull base	-	OMIM:131300
51098	IFT52	HP:0008897	Postnatal growth retardation	-	OMIM:615777
51098	IFT52	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
51098	IFT52	HP:0001324	Muscle weakness	40/96	OMIM:131300
51098	IFT52	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
51098	IFT52	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
51098	IFT52	HP:0000007	Autosomal recessive inheritance	-	OMIM:617102
51098	IFT52	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
51098	IFT52	HP:0002650	Scoliosis	12/14	OMIM:131300
51098	IFT52	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
51098	IFT52	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
51098	IFT52	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
51098	IFT52	HP:0008905	Rhizomelia	HP:0040281	ORPHA:1515
51098	IFT52	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
51098	IFT52	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:1515
51098	IFT52	HP:0000175	Cleft palate	2/7	OMIM:615777
51098	IFT52	HP:0002007	Frontal bossing	HP:0040281	ORPHA:1515
51098	IFT52	HP:0011800	Midface retrusion	1/1	OMIM:617102
51098	IFT52	HP:0002098	Respiratory distress	1/1	OMIM:617102
51098	IFT52	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:617102
51098	IFT52	HP:0003388	Easy fatigability	36/76	OMIM:131300
51098	IFT52	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
51098	IFT52	HP:0003577	Congenital onset	1/1	OMIM:617102
51098	IFT52	HP:0032078	Angel-shaped phalanx	1/1	OMIM:617102
51098	IFT52	HP:0003510	Severe short stature	7/7	OMIM:615777
51098	IFT52	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:1515
51098	IFT52	HP:0002315	Headache	-	OMIM:131300
51098	IFT52	HP:0004976	Knee dislocation	6/7	OMIM:615777
51098	IFT52	HP:0009826	Limb undergrowth	1/1	OMIM:617102
51098	IFT52	HP:0009803	Short phalanx of finger	1/1	OMIM:617102
51098	IFT52	HP:0009803	Short phalanx of finger	-	OMIM:615777
51098	IFT52	HP:0008499	High hypermetropia	HP:0040283	ORPHA:1515
51098	IFT52	HP:0010743	Short metatarsal	1/1	OMIM:617102
51098	IFT52	HP:0009763	Limb pain	63/92	OMIM:131300
51098	IFT52	HP:0003621	Juvenile onset	-	OMIM:131300
51098	IFT52	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
51098	IFT52	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:1515
51098	IFT52	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
51098	IFT52	HP:0000639	Nystagmus	HP:0040283	ORPHA:1515
51098	IFT52	HP:0000639	Nystagmus	1/1	OMIM:617102
51098	IFT52	HP:6001056	Out-toeing	-	OMIM:131300
51098	IFT52	HP:0000651	Diplopia	-	OMIM:131300
51098	IFT52	HP:0001956	Truncal obesity	2/7	OMIM:615777
51098	IFT52	HP:0000601	Hypotelorism	HP:0040282	ORPHA:1515
51098	IFT52	HP:0001903	Anemia	HP:0040283	OMIM:131300
51098	IFT52	HP:0010049	Short metacarpal	-	OMIM:615777
51098	IFT52	HP:0010049	Short metacarpal	1/1	OMIM:617102
51098	IFT52	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:1515
51098	IFT52	HP:0000679	Taurodontia	HP:0040283	ORPHA:1515
51098	IFT52	HP:0000678	Dental crowding	-	OMIM:615777
51098	IFT52	HP:0000691	Microdontia	HP:0040281	ORPHA:1515
51098	IFT52	HP:0000687	Widely spaced teeth	1/1	OMIM:617102
51098	IFT52	HP:0000670	Carious teeth	-	OMIM:131300
51098	IFT52	HP:0000670	Carious teeth	1/1	OMIM:617102
51098	IFT52	HP:0011304	Broad thumb	2/7	OMIM:615777
51098	IFT52	HP:0000668	Hypodontia	HP:0040282	ORPHA:1515
51098	IFT52	HP:0000668	Hypodontia	-	OMIM:615777
51098	IFT52	HP:0000664	Synophrys	-	OMIM:615777
51098	IFT52	HP:0004322	Short stature	-	OMIM:617102
51098	IFT52	HP:0004396	Poor appetite	-	OMIM:131300
51098	IFT52	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
51098	IFT52	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
51098	IFT52	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
51098	IFT52	HP:0003026	Short long bone	7/7	OMIM:615777
51098	IFT52	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
51098	IFT52	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:1515
51098	IFT52	HP:0000767	Pectus excavatum	2/7	OMIM:615777
51098	IFT52	HP:0000768	Pectus carinatum	1/7	OMIM:615777
51098	IFT52	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
51098	IFT52	HP:0000750	Delayed speech and language development	-	OMIM:615777
51098	IFT52	HP:0011461	Fetal onset	7/7	OMIM:615777
51098	IFT52	HP:0000774	Narrow chest	HP:0040281	ORPHA:1515
51098	IFT52	HP:0000774	Narrow chest	1/1	OMIM:617102
51098	IFT52	HP:0000774	Narrow chest	2/7	OMIM:615777
51098	IFT52	HP:0000926	Platyspondyly	1/7	OMIM:615777
51098	IFT52	HP:0003180	Flat acetabular roof	-	OMIM:615777
51098	IFT52	HP:0003180	Flat acetabular roof	-	OMIM:617102
51098	IFT52	HP:0004482	Relative macrocephaly	-	OMIM:615777
51098	IFT52	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
51098	IFT52	HP:0000823	Delayed puberty	-	OMIM:131300
51098	IFT52	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	1/1	OMIM:617102
51098	IFT52	HP:0000894	Short clavicles	-	OMIM:615777
51098	IFT52	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
51098	IFT52	HP:0100259	Postaxial polydactyly	1/1	OMIM:617102
51098	IFT52	HP:0010306	Short thorax	1/1	OMIM:617102
51098	IFT52	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
51098	IFT52	HP:0000939	Osteoporosis	HP:0040281	ORPHA:1515
51098	IFT52	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1515
51098	IFT52	HP:0000940	Abnormal diaphysis morphology	HP:0040281	ORPHA:1515
51098	IFT52	HP:0008070	Sparse hair	HP:0040281	ORPHA:1515
51098	IFT52	HP:0000286	Epicanthus	HP:0040281	ORPHA:1515
51098	IFT52	HP:0000286	Epicanthus	1/7	OMIM:615777
51098	IFT52	HP:0000280	Coarse facial features	2/7	OMIM:615777
51098	IFT52	HP:0000293	Full cheeks	1/1	OMIM:617102
51098	IFT52	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:1515
51098	IFT52	HP:0000268	Dolichocephaly	1/1	OMIM:617102
51098	IFT52	HP:0000269	Prominent occiput	HP:0040281	ORPHA:1515
51098	IFT52	HP:0002827	Hip dislocation	3/7	OMIM:615777
51098	IFT52	HP:0000252	Microcephaly	-	OMIM:615777
51098	IFT52	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:1515
51098	IFT52	HP:0002857	Genu valgum	-	OMIM:131300
51098	IFT52	HP:0001538	Protuberant abdomen	1/1	OMIM:617102
51098	IFT52	HP:0001533	Slender build	-	OMIM:131300
51098	IFT52	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
51098	IFT52	HP:0007814	Retinal pigment epithelial mottling	1/1	OMIM:617102
51098	IFT52	HP:0007807	Optic nerve compression	-	OMIM:131300
51098	IFT52	HP:0012368	Flat face	7/7	OMIM:615777
51098	IFT52	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
51098	IFT52	HP:0000365	Hearing impairment	10/67	OMIM:131300
51098	IFT52	HP:0000369	Low-set ears	1/1	OMIM:617102
51098	IFT52	HP:0000343	Long philtrum	1/7	OMIM:615777
51098	IFT52	HP:0011001	Increased bone mineral density	-	OMIM:131300
51098	IFT52	HP:0000348	High forehead	1/1	OMIM:617102
51098	IFT52	HP:0000311	Round face	2/7	OMIM:615777
51098	IFT52	HP:0002970	Genu varum	-	OMIM:615777
51098	IFT52	HP:0000303	Mandibular prognathia	-	OMIM:131300
51098	IFT52	HP:0005280	Depressed nasal bridge	1/1	OMIM:617102
51098	IFT52	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
51098	IFT52	HP:0012471	Thick vermilion border	1/1	OMIM:617102
51098	IFT52	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1515
51098	IFT52	HP:0000470	Short neck	1/7	OMIM:615777
51098	IFT52	HP:0001769	Broad foot	HP:0040283	OMIM:615777
51098	IFT52	HP:0001763	Pes planus	1/7	OMIM:615777
51098	IFT52	HP:0000431	Wide nasal bridge	1/1	OMIM:617102
51098	IFT52	HP:0001840	Metatarsus adductus	-	OMIM:615777
51098	IFT52	HP:0001852	Sandal gap	-	OMIM:617102
51098	IFT52	HP:0000520	Proptosis	2/4	OMIM:131300
51098	IFT52	HP:0000520	Proptosis	7/7	OMIM:615777
51098	IFT52	HP:0000506	Telecanthus	1/1	OMIM:617102
51098	IFT52	HP:0000592	Blue sclerae	2/7	OMIM:615777
51098	IFT52	HP:0000540	Hypermetropia	1/1	OMIM:617102
51098	IFT52	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
51098	IFT52	HP:0012514	Lower limb pain	4/4	OMIM:131300
51098	IFT52	HP:0000545	Myopia	HP:0040283	ORPHA:1515
51099	ABHD5	HP:0008551	Microtia	-	OMIM:275630
51099	ABHD5	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0001284	Areflexia	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0001251	Ataxia	-	OMIM:275630
51099	ABHD5	HP:0001251	Ataxia	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0001249	Intellectual disability	-	OMIM:275630
51099	ABHD5	HP:0001263	Global developmental delay	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0001397	Hepatic steatosis	-	OMIM:275630
51099	ABHD5	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	HP:0040281	ORPHA:98907
51099	ABHD5	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	-	OMIM:275630
51099	ABHD5	HP:0001324	Muscle weakness	-	OMIM:275630
51099	ABHD5	HP:0000007	Autosomal recessive inheritance	-	OMIM:275630
51099	ABHD5	HP:0001413	Micronodular cirrhosis	HP:0040283	ORPHA:98907
51099	ABHD5	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0002240	Hepatomegaly	-	OMIM:275630
51099	ABHD5	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0007009	Central nervous system degeneration	HP:0040283	ORPHA:98907
51099	ABHD5	HP:0009073	Progressive proximal muscle weakness	HP:0040281	ORPHA:98907
51099	ABHD5	HP:0000639	Nystagmus	-	OMIM:275630
51099	ABHD5	HP:0000639	Nystagmus	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0001946	Ketosis	-	ORPHA:98907
51099	ABHD5	HP:0001911	Abnormal granulocyte morphology	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0000656	Ectropion	-	OMIM:275630
51099	ABHD5	HP:0000656	Ectropion	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0004322	Short stature	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0003198	Myopathy	-	OMIM:275630
51099	ABHD5	HP:0003198	Myopathy	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0001596	Alopecia	-	OMIM:275630
51099	ABHD5	HP:0001596	Alopecia	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0012240	Increased intramyocellular lipid droplets	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0000232	Everted lower lip vermilion	-	OMIM:275630
51099	ABHD5	HP:0001513	Obesity	-	ORPHA:98907
51099	ABHD5	HP:0000385	Small earlobe	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0000407	Sensorineural hearing impairment	-	OMIM:275630
51099	ABHD5	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0000486	Strabismus	-	OMIM:275630
51099	ABHD5	HP:0000486	Strabismus	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0012472	Eclabion	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0000523	Subcapsular cataract	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0000523	Subcapsular cataract	-	OMIM:275630
51099	ABHD5	HP:0000508	Ptosis	HP:0040282	ORPHA:98907
51099	ABHD5	HP:0001871	Abnormality of blood and blood-forming tissues	-	OMIM:275630
51102	MECR	HP:0002451	Limb dystonia	HP:0040282	ORPHA:508093
51102	MECR	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:508093
51102	MECR	HP:0001270	Motor delay	HP:0040282	ORPHA:508093
51102	MECR	HP:0001288	Gait disturbance	-	OMIM:617282
51102	MECR	HP:0001288	Gait disturbance	HP:0040282	ORPHA:508093
51102	MECR	HP:0001252	Hypotonia	2/7	OMIM:617282
51102	MECR	HP:0001252	Hypotonia	HP:0040283	ORPHA:508093
51102	MECR	HP:0001251	Ataxia	1/7	OMIM:617282
51102	MECR	HP:0001251	Ataxia	HP:0040283	ORPHA:508093
51102	MECR	HP:0001260	Dysarthria	14/14	OMIM:617282
51102	MECR	HP:0001260	Dysarthria	HP:0040281	ORPHA:508093
51102	MECR	HP:0001257	Spasticity	1/7	OMIM:617282
51102	MECR	HP:0001257	Spasticity	HP:0040283	ORPHA:508093
51102	MECR	HP:0002530	Axial dystonia	HP:0040283	ORPHA:508093
51102	MECR	HP:0002505	Loss of ambulation	1/7	OMIM:617282
51102	MECR	HP:0001347	Hyperreflexia	1/7	OMIM:617282
51102	MECR	HP:0025312	Esophoria	1/7	OMIM:617282
51102	MECR	HP:0025312	Esophoria	HP:0040283	ORPHA:508093
51102	MECR	HP:0001332	Dystonia	12/14	OMIM:617282
51102	MECR	HP:0001332	Dystonia	HP:0040281	ORPHA:508093
51102	MECR	HP:0001324	Muscle weakness	HP:0040283	ORPHA:508093
51102	MECR	HP:0000007	Autosomal recessive inheritance	-	OMIM:620629
51102	MECR	HP:0000007	Autosomal recessive inheritance	-	OMIM:617282
51102	MECR	HP:0001336	Myoclonus	HP:0040283	ORPHA:508093
51102	MECR	HP:0001336	Myoclonus	2/7	OMIM:617282
51102	MECR	HP:0012179	Craniofacial dystonia	3/7	OMIM:617282
51102	MECR	HP:0012179	Craniofacial dystonia	HP:0040282	ORPHA:508093
51102	MECR	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:508093
51102	MECR	HP:0007663	Reduced visual acuity	1/2	OMIM:620629
51102	MECR	HP:0007663	Reduced visual acuity	1/7	OMIM:617282
51102	MECR	HP:0007641	Dyschromatopsia	2/2	OMIM:620629
51102	MECR	HP:0031206	Striatal T2 hyperintensity	HP:0040281	ORPHA:508093
51102	MECR	HP:0002015	Dysphagia	2/7	OMIM:617282
51102	MECR	HP:0002015	Dysphagia	HP:0040283	ORPHA:508093
51102	MECR	HP:0002063	Rigidity	1/7	OMIM:617282
51102	MECR	HP:0002072	Chorea	HP:0040283	ORPHA:508093
51102	MECR	HP:0002072	Chorea	2/7	OMIM:617282
51102	MECR	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:508093
51102	MECR	HP:0003487	Babinski sign	1/7	OMIM:617282
51102	MECR	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040283	ORPHA:508093
51102	MECR	HP:0002194	Delayed gross motor development	2/7	OMIM:617282
51102	MECR	HP:0032005	Hemidystonia	HP:0040283	ORPHA:508093
51102	MECR	HP:0008347	Decreased activity of mitochondrial complex IV	HP:0040283	ORPHA:508093
51102	MECR	HP:0011968	Feeding difficulties	1/7	OMIM:617282
51102	MECR	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:508093
51102	MECR	HP:0008314	Decreased activity of mitochondrial complex II	HP:0040283	ORPHA:508093
51102	MECR	HP:0003676	Progressive	-	OMIM:617282
51102	MECR	HP:0002315	Headache	HP:0040283	ORPHA:508093
51102	MECR	HP:0002315	Headache	2/2	OMIM:620629
51102	MECR	HP:0100660	Dyskinesia	HP:0040282	ORPHA:508093
51102	MECR	HP:0100660	Dyskinesia	2/7	OMIM:617282
51102	MECR	HP:0007166	Paroxysmal dyskinesia	1/7	OMIM:617282
51102	MECR	HP:0002312	Clumsiness	1/7	OMIM:617282
51102	MECR	HP:0002305	Athetosis	1/7	OMIM:617282
51102	MECR	HP:0003621	Juvenile onset	1/2	OMIM:620629
51102	MECR	HP:0003621	Juvenile onset	2/7	OMIM:617282
51102	MECR	HP:0000639	Nystagmus	3/7	OMIM:617282
51102	MECR	HP:0000639	Nystagmus	HP:0040282	ORPHA:508093
51102	MECR	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:508093
51102	MECR	HP:0000648	Optic atrophy	2/2	OMIM:620629
51102	MECR	HP:0000648	Optic atrophy	5/7	OMIM:617282
51102	MECR	HP:0000648	Optic atrophy	HP:0040282	ORPHA:508093
51102	MECR	HP:0000643	Blepharospasm	1/7	OMIM:617282
51102	MECR	HP:0000603	Central scotoma	2/2	OMIM:620629
51102	MECR	HP:0004305	Involuntary movements	-	OMIM:617282
51102	MECR	HP:0012707	Elevated brain lactate level by MRS	HP:0040283	ORPHA:508093
51102	MECR	HP:0011463	Childhood onset	5/7	OMIM:617282
51102	MECR	HP:0011462	Young adult onset	1/2	OMIM:620629
51102	MECR	HP:0003121	Limb joint contracture	1/7	OMIM:617282
51102	MECR	HP:0001508	Failure to thrive	1/7	OMIM:617282
51102	MECR	HP:0001508	Failure to thrive	HP:0040283	ORPHA:508093
51102	MECR	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:620629
51102	MECR	HP:0000514	Slow saccadic eye movements	1/7	OMIM:617282
51102	MECR	HP:0000505	Visual impairment	3/7	OMIM:617282
51102	MECR	HP:0000580	Pigmentary retinopathy	1/7	OMIM:617282
51102	MECR	HP:0000572	Visual loss	2/2	OMIM:620629
51102	MECR	HP:0012511	Temporal optic disc pallor	2/2	OMIM:620629
51102	MECR	HP:0000543	Optic disc pallor	1/7	OMIM:617282
51103	NDUFAF1	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
51103	NDUFAF1	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0001298	Encephalopathy	-	OMIM:618234
51103	NDUFAF1	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0001252	Hypotonia	1/1	OMIM:618234
51103	NDUFAF1	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0001263	Global developmental delay	1/1	OMIM:618234
51103	NDUFAF1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618234
51103	NDUFAF1	HP:0002650	Scoliosis	-	OMIM:618234
51103	NDUFAF1	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0001403	Macrovesicular hepatic steatosis	-	OMIM:618234
51103	NDUFAF1	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0002151	Increased circulating lactate concentration	-	OMIM:618234
51103	NDUFAF1	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
51103	NDUFAF1	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:618234
51103	NDUFAF1	HP:0003593	Infantile onset	1/1	OMIM:618234
51103	NDUFAF1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0002240	Hepatomegaly	-	OMIM:618234
51103	NDUFAF1	HP:0100704	Cerebral visual impairment	1/1	OMIM:618234
51103	NDUFAF1	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
51103	NDUFAF1	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0002342	Intellectual disability, moderate	1/1	OMIM:618234
51103	NDUFAF1	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0000618	Blindness	HP:0040283	ORPHA:2609
51103	NDUFAF1	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0001942	Metabolic acidosis	-	OMIM:618234
51103	NDUFAF1	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0003198	Myopathy	-	OMIM:618234
51103	NDUFAF1	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0003128	Lactic acidosis	1/1	OMIM:618234
51103	NDUFAF1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
51103	NDUFAF1	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0000939	Osteoporosis	-	OMIM:618234
51103	NDUFAF1	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0002808	Kyphosis	-	OMIM:618234
51103	NDUFAF1	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
51103	NDUFAF1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0001508	Failure to thrive	1/1	OMIM:618234
51103	NDUFAF1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:618234
51103	NDUFAF1	HP:0001635	Congestive heart failure	1/1	OMIM:618234
51103	NDUFAF1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0001716	Wolff-Parkinson-White syndrome	1/1	OMIM:618234
51103	NDUFAF1	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
51103	NDUFAF1	HP:0000580	Pigmentary retinopathy	1/1	OMIM:618234
51103	NDUFAF1	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
51109	RDH11	HP:0001156	Brachydactyly	HP:0040282	ORPHA:436245
51109	RDH11	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
51109	RDH11	HP:0001133	Constriction of peripheral visual field	HP:0040282	ORPHA:436245
51109	RDH11	HP:0001118	Juvenile cataract	HP:0040281	ORPHA:436245
51109	RDH11	HP:0009907	Attached earlobe	HP:0040282	ORPHA:436245
51109	RDH11	HP:0009907	Attached earlobe	2/3	OMIM:616108
51109	RDH11	HP:0001263	Global developmental delay	3/3	OMIM:616108
51109	RDH11	HP:0001263	Global developmental delay	HP:0040281	ORPHA:436245
51109	RDH11	HP:0001328	Specific learning disability	HP:0040282	ORPHA:436245
51109	RDH11	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
51109	RDH11	HP:0000007	Autosomal recessive inheritance	-	OMIM:616108
51109	RDH11	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
51109	RDH11	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
51109	RDH11	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:436245
51109	RDH11	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
51109	RDH11	HP:0007010	Poor fine motor coordination	HP:0040282	ORPHA:436245
51109	RDH11	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:436245
51109	RDH11	HP:0010761	Broad columella	HP:0040282	ORPHA:436245
51109	RDH11	HP:0002311	Incoordination	HP:0040282	ORPHA:436245
51109	RDH11	HP:0003621	Juvenile onset	8/19	OMIM:180100
51109	RDH11	HP:0000699	Diastema	HP:0040282	ORPHA:436245
51109	RDH11	HP:0000689	Dental malocclusion	3/3	OMIM:616108
51109	RDH11	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:436245
51109	RDH11	HP:0000687	Widely spaced teeth	3/3	OMIM:616108
51109	RDH11	HP:0000662	Nyctalopia	3/3	OMIM:616108
51109	RDH11	HP:0000662	Nyctalopia	26/28	OMIM:180100
51109	RDH11	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:436245
51109	RDH11	HP:0004322	Short stature	3/3	OMIM:616108
51109	RDH11	HP:0004322	Short stature	HP:0040281	ORPHA:436245
51109	RDH11	HP:0011463	Childhood onset	3/3	OMIM:616108
51109	RDH11	HP:0011463	Childhood onset	3/19	OMIM:180100
51109	RDH11	HP:0011462	Young adult onset	8/19	OMIM:180100
51109	RDH11	HP:0007722	Retinal pigment epithelial atrophy	3/3	OMIM:616108
51109	RDH11	HP:0000272	Malar flattening	3/3	OMIM:616108
51109	RDH11	HP:0000272	Malar flattening	HP:0040282	ORPHA:436245
51109	RDH11	HP:0007791	Patchy atrophy of the retinal pigment epithelium	HP:0040282	ORPHA:436245
51109	RDH11	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
51109	RDH11	HP:0007737	Bone spicule pigmentation of the retina	3/3	OMIM:616108
51109	RDH11	HP:0007843	Attenuation of retinal blood vessels	3/3	OMIM:616108
51109	RDH11	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
51109	RDH11	HP:0000369	Low-set ears	HP:0040282	ORPHA:436245
51109	RDH11	HP:0000347	Micrognathia	HP:0040282	ORPHA:436245
51109	RDH11	HP:0007965	Undetectable visual evoked potentials	HP:0040282	ORPHA:436245
51109	RDH11	HP:0000400	Macrotia	HP:0040283	ORPHA:436245
51109	RDH11	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:436245
51109	RDH11	HP:0000470	Short neck	HP:0040282	ORPHA:436245
51109	RDH11	HP:0000430	Underdeveloped nasal alae	3/3	OMIM:616108
51109	RDH11	HP:0000430	Underdeveloped nasal alae	HP:0040281	ORPHA:436245
51109	RDH11	HP:0000518	Cataract	3/3	OMIM:616108
51109	RDH11	HP:0000510	Rod-cone dystrophy	3/3	OMIM:616108
51109	RDH11	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
51109	RDH11	HP:0000510	Rod-cone dystrophy	HP:0040281	ORPHA:436245
51109	RDH11	HP:0000529	Progressive visual loss	HP:0040281	ORPHA:436245
51109	RDH11	HP:0000582	Upslanted palpebral fissure	3/3	OMIM:616108
51109	RDH11	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:436245
51109	RDH11	HP:0000575	Scotoma	5/18	OMIM:180100
51109	RDH11	HP:0000556	Retinal dystrophy	3/3	OMIM:616108
51109	RDH11	HP:0000543	Optic disc pallor	1/1	OMIM:180100
51109	RDH11	HP:0000545	Myopia	-	OMIM:180100
51111	KMT5B	HP:0001249	Intellectual disability	7/7	OMIM:617788
51111	KMT5B	HP:0001263	Global developmental delay	-	OMIM:617788
51111	KMT5B	HP:0000028	Cryptorchidism	1/7	OMIM:617788
51111	KMT5B	HP:0001344	Absent speech	1/7	OMIM:617788
51111	KMT5B	HP:0000006	Autosomal dominant inheritance	-	OMIM:617788
51111	KMT5B	HP:0002033	Poor suck	1/7	OMIM:617788
51111	KMT5B	HP:0002028	Chronic diarrhea	1/7	OMIM:617788
51111	KMT5B	HP:0002119	Ventriculomegaly	1/7	OMIM:617788
51111	KMT5B	HP:0010511	Long toe	1/7	OMIM:617788
51111	KMT5B	HP:0003593	Infantile onset	-	OMIM:617788
51111	KMT5B	HP:0007018	Attention deficit hyperactivity disorder	1/7	OMIM:617788
51111	KMT5B	HP:0011968	Feeding difficulties	1/7	OMIM:617788
51111	KMT5B	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2/7	OMIM:617788
51111	KMT5B	HP:0009765	Low hanging columella	1/7	OMIM:617788
51111	KMT5B	HP:4000076	Use of another person's body to communicate	1/7	OMIM:617788
51111	KMT5B	HP:4000070	Fixated interests	1/7	OMIM:617788
51111	KMT5B	HP:0012741	Unilateral cryptorchidism	1/7	OMIM:617788
51111	KMT5B	HP:0100023	Recurrent hand flapping	1/7	OMIM:617788
51111	KMT5B	HP:0100033	Tics	1/7	OMIM:617788
51111	KMT5B	HP:0000750	Delayed speech and language development	-	OMIM:617788
51111	KMT5B	HP:0000718	Aggressive behavior	1/7	OMIM:617788
51111	KMT5B	HP:0000729	Autistic behavior	5/7	OMIM:617788
51111	KMT5B	HP:0012810	Wide nasal base	1/7	OMIM:617788
51111	KMT5B	HP:0000286	Epicanthus	1/7	OMIM:617788
51111	KMT5B	HP:0000256	Macrocephaly	1/7	OMIM:617788
51111	KMT5B	HP:0031354	Sleep onset insomnia	2/7	OMIM:617788
51111	KMT5B	HP:0001508	Failure to thrive	1/7	OMIM:617788
51111	KMT5B	HP:0000348	High forehead	1/7	OMIM:617788
51111	KMT5B	HP:0005338	Sparse lateral eyebrow	1/7	OMIM:617788
51111	KMT5B	HP:0000403	Recurrent otitis media	1/7	OMIM:617788
51111	KMT5B	HP:0032895	Febrile seizure outside the age of 3 months to 6 years	1/7	OMIM:617788
51111	KMT5B	HP:0012450	Chronic constipation	2/7	OMIM:617788
51111	KMT5B	HP:0001762	Talipes equinovarus	1/7	OMIM:617788
51111	KMT5B	HP:0000431	Wide nasal bridge	1/7	OMIM:617788
51111	KMT5B	HP:0001833	Long foot	1/7	OMIM:617788
51111	KMT5B	HP:0012520	Dilation of Virchow-Robin spaces	1/7	OMIM:617788
51112	TRAPPC12	HP:0002490	Increased CSF lactate	HP:0040283	ORPHA:500144
51112	TRAPPC12	HP:0009879	Simplified gyral pattern	3/3	OMIM:617669
51112	TRAPPC12	HP:0001298	Encephalopathy	3/3	OMIM:617669
51112	TRAPPC12	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:500144
51112	TRAPPC12	HP:0001274	Agenesis of corpus callosum	3/3	OMIM:617669
51112	TRAPPC12	HP:0001250	Seizure	1/3	OMIM:617669
51112	TRAPPC12	HP:0001250	Seizure	HP:0040282	ORPHA:500144
51112	TRAPPC12	HP:0001257	Spasticity	HP:0040282	ORPHA:500144
51112	TRAPPC12	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:500144
51112	TRAPPC12	HP:0002521	Hypsarrhythmia	1/3	OMIM:617669
51112	TRAPPC12	HP:0001332	Dystonia	3/3	OMIM:617669
51112	TRAPPC12	HP:0001332	Dystonia	HP:0040282	ORPHA:500144
51112	TRAPPC12	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:500144
51112	TRAPPC12	HP:0000011	Neurogenic bladder	1/3	OMIM:617669
51112	TRAPPC12	HP:0001338	Partial agenesis of the corpus callosum	HP:0040282	ORPHA:500144
51112	TRAPPC12	HP:0000007	Autosomal recessive inheritance	-	OMIM:617669
51112	TRAPPC12	HP:0001336	Myoclonus	HP:0040282	ORPHA:500144
51112	TRAPPC12	HP:0001336	Myoclonus	3/3	OMIM:617669
51112	TRAPPC12	HP:0002650	Scoliosis	3/3	OMIM:617669
51112	TRAPPC12	HP:0002650	Scoliosis	HP:0040282	ORPHA:500144
51112	TRAPPC12	HP:0001321	Cerebellar hypoplasia	2/3	OMIM:617669
51112	TRAPPC12	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:500144
51112	TRAPPC12	HP:0008936	Axial hypotonia	3/3	OMIM:617669
51112	TRAPPC12	HP:0012110	Hypoplasia of the pons	HP:0040282	ORPHA:500144
51112	TRAPPC12	HP:0012110	Hypoplasia of the pons	3/3	OMIM:617669
51112	TRAPPC12	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:500144
51112	TRAPPC12	HP:0002015	Dysphagia	3/3	OMIM:617669
51112	TRAPPC12	HP:0002015	Dysphagia	HP:0040282	ORPHA:500144
51112	TRAPPC12	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:500144
51112	TRAPPC12	HP:0002120	Cerebral cortical atrophy	3/3	OMIM:617669
51112	TRAPPC12	HP:0002119	Ventriculomegaly	3/3	OMIM:617669
51112	TRAPPC12	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:500144
51112	TRAPPC12	HP:0003593	Infantile onset	1/3	OMIM:617669
51112	TRAPPC12	HP:0003577	Congenital onset	2/3	OMIM:617669
51112	TRAPPC12	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:500144
51112	TRAPPC12	HP:0100704	Cerebral visual impairment	2/3	OMIM:617669
51112	TRAPPC12	HP:0011968	Feeding difficulties	3/3	OMIM:617669
51112	TRAPPC12	HP:0007096	Hypoplasia of the optic tract	HP:0040282	ORPHA:500144
51112	TRAPPC12	HP:0002376	Developmental regression	HP:0040283	ORPHA:500144
51112	TRAPPC12	HP:0002376	Developmental regression	3/3	OMIM:617669
51112	TRAPPC12	HP:0003676	Progressive	-	OMIM:617669
51112	TRAPPC12	HP:0000648	Optic atrophy	1/3	OMIM:617669
51112	TRAPPC12	HP:0000648	Optic atrophy	HP:0040283	ORPHA:500144
51112	TRAPPC12	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:500144
51112	TRAPPC12	HP:0011344	Severe global developmental delay	3/3	OMIM:617669
51112	TRAPPC12	HP:0012796	Increased cup-to-disc ratio	HP:0040283	ORPHA:500144
51112	TRAPPC12	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040282	ORPHA:500144
51112	TRAPPC12	HP:0011451	Primary microcephaly	HP:0040282	ORPHA:500144
51112	TRAPPC12	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040282	ORPHA:500144
51112	TRAPPC12	HP:0034311	Hypoplastic optic chiasm	2/3	OMIM:617669
51112	TRAPPC12	HP:0034353	Appendicular spasticity	3/3	OMIM:617669
51112	TRAPPC12	HP:0000252	Microcephaly	3/3	OMIM:617669
51112	TRAPPC12	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:500144
51112	TRAPPC12	HP:0030043	Hip subluxation	HP:0040283	ORPHA:500144
51112	TRAPPC12	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:500144
51112	TRAPPC12	HP:0011097	Epileptic spasm	1/3	OMIM:617669
51112	TRAPPC12	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:500144
51112	TRAPPC12	HP:0000365	Hearing impairment	3/3	OMIM:617669
51112	TRAPPC12	HP:0005484	Secondary microcephaly	HP:0040283	ORPHA:500144
51112	TRAPPC12	HP:0012510	Extra-axial cerebrospinal fluid accumulation	3/3	OMIM:617669
51114	ZDHHC9	HP:0001156	Brachydactyly	HP:0040283	ORPHA:776
51114	ZDHHC9	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:776
51114	ZDHHC9	HP:0001166	Arachnodactyly	-	OMIM:300799
51114	ZDHHC9	HP:0001250	Seizure	HP:0040283	ORPHA:776
51114	ZDHHC9	HP:0001252	Hypotonia	HP:0040281	ORPHA:776
51114	ZDHHC9	HP:0001249	Intellectual disability	HP:0040281	ORPHA:776
51114	ZDHHC9	HP:0001249	Intellectual disability	HP:0040280	OMIM:300799
51114	ZDHHC9	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040282	ORPHA:776
51114	ZDHHC9	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:776
51114	ZDHHC9	HP:0000053	Macroorchidism	HP:0040282	ORPHA:776
51114	ZDHHC9	HP:0002650	Scoliosis	HP:0040281	ORPHA:776
51114	ZDHHC9	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:776
51114	ZDHHC9	HP:0001417	X-linked inheritance	-	OMIM:300799
51114	ZDHHC9	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:776
51114	ZDHHC9	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:776
51114	ZDHHC9	HP:0100753	Schizophrenia	HP:0040283	ORPHA:776
51114	ZDHHC9	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:776
51114	ZDHHC9	HP:0000678	Dental crowding	HP:0040283	ORPHA:776
51114	ZDHHC9	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:776
51114	ZDHHC9	HP:0000768	Pectus carinatum	-	OMIM:300799
51114	ZDHHC9	HP:0000738	Hallucinations	HP:0040283	ORPHA:776
51114	ZDHHC9	HP:0000709	Psychosis	HP:0040283	ORPHA:776
51114	ZDHHC9	HP:0000708	Atypical behavior	HP:0040283	OMIM:300799
51114	ZDHHC9	HP:0000708	Atypical behavior	HP:0040281	ORPHA:776
51114	ZDHHC9	HP:0009183	Joint contracture of the 5th finger	-	OMIM:300799
51114	ZDHHC9	HP:0000256	Macrocephaly	HP:0040281	ORPHA:776
51114	ZDHHC9	HP:0000275	Narrow face	HP:0040282	ORPHA:776
51114	ZDHHC9	HP:0000248	Brachycephaly	HP:0040283	ORPHA:776
51114	ZDHHC9	HP:0000218	High palate	HP:0040281	ORPHA:776
51114	ZDHHC9	HP:0001519	Disproportionate tall stature	-	OMIM:300799
51114	ZDHHC9	HP:0001519	Disproportionate tall stature	HP:0040281	ORPHA:776
51114	ZDHHC9	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:776
51114	ZDHHC9	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:776
51114	ZDHHC9	HP:0000369	Low-set ears	HP:0040283	ORPHA:776
51114	ZDHHC9	HP:0000348	High forehead	HP:0040281	ORPHA:776
51114	ZDHHC9	HP:0000347	Micrognathia	HP:0040281	ORPHA:776
51114	ZDHHC9	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:776
51114	ZDHHC9	HP:0000322	Short philtrum	HP:0040282	ORPHA:776
51114	ZDHHC9	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:776
51114	ZDHHC9	HP:0000486	Strabismus	-	OMIM:300799
51114	ZDHHC9	HP:0001763	Pes planus	-	OMIM:300799
51114	ZDHHC9	HP:0000411	Protruding ear	-	OMIM:300799
51114	ZDHHC9	HP:0000411	Protruding ear	HP:0040283	ORPHA:776
51114	ZDHHC9	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:776
51116	MRPS2	HP:0002465	Poor speech	2/2	OMIM:617950
51116	MRPS2	HP:0001252	Hypotonia	2/2	OMIM:617950
51116	MRPS2	HP:0001249	Intellectual disability	2/2	OMIM:617950
51116	MRPS2	HP:0001263	Global developmental delay	2/2	OMIM:617950
51116	MRPS2	HP:0007340	Lower limb muscle weakness	1/2	OMIM:617950
51116	MRPS2	HP:0012072	Aciduria	-	OMIM:617950
51116	MRPS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617950
51116	MRPS2	HP:0003348	Hyperalaninemia	1/2	OMIM:617950
51116	MRPS2	HP:0003326	Myalgia	1/2	OMIM:617950
51116	MRPS2	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:617950
51116	MRPS2	HP:0003593	Infantile onset	2/2	OMIM:617950
51116	MRPS2	HP:0003546	Exercise intolerance	1/2	OMIM:617950
51116	MRPS2	HP:0020049	Exodeviation	1/2	OMIM:617950
51116	MRPS2	HP:0002315	Headache	1/2	OMIM:617950
51116	MRPS2	HP:0100678	Premature skin wrinkling	1/2	OMIM:617950
51116	MRPS2	HP:0001943	Hypoglycemia	2/2	OMIM:617950
51116	MRPS2	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/2	OMIM:617950
51116	MRPS2	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/2	OMIM:617950
51116	MRPS2	HP:0001508	Failure to thrive	1/2	OMIM:617950
51116	MRPS2	HP:0000369	Low-set ears	1/2	OMIM:617950
51116	MRPS2	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:617950
51116	MRPS2	HP:0000582	Upslanted palpebral fissure	1/2	OMIM:617950
51117	COQ4	HP:0007325	Generalized dystonia	3/6	OMIM:616276
51117	COQ4	HP:0032278	2-hydroxyglutarate aciduria	4/10	OMIM:616276
51117	COQ4	HP:0010851	EEG with burst suppression	2/2	OMIM:616276
51117	COQ4	HP:0001276	Hypertonia	1/1	OMIM:620666
51117	COQ4	HP:0001272	Cerebellar atrophy	4/11	OMIM:616276
51117	COQ4	HP:0001272	Cerebellar atrophy	2/11	OMIM:620666
51117	COQ4	HP:0001271	Polyneuropathy	1/5	OMIM:616276
51117	COQ4	HP:0001270	Motor delay	2/3	OMIM:616276
51117	COQ4	HP:0001284	Areflexia	3/3	OMIM:616276
51117	COQ4	HP:0001250	Seizure	1/1	OMIM:620666
51117	COQ4	HP:0001250	Seizure	10/13	OMIM:616276
51117	COQ4	HP:0001252	Hypotonia	1/1	OMIM:616276
51117	COQ4	HP:0001251	Ataxia	2/3	OMIM:616276
51117	COQ4	HP:0001260	Dysarthria	4/15	OMIM:620666
51117	COQ4	HP:0001263	Global developmental delay	13/13	OMIM:616276
51117	COQ4	HP:0001257	Spasticity	4/11	OMIM:616276
51117	COQ4	HP:0033715	Hippocampal sclerosis	1/3	OMIM:620666
51117	COQ4	HP:0007350	Upper limb hyperreflexia	4/9	OMIM:620666
51117	COQ4	HP:0002505	Loss of ambulation	1/1	OMIM:620666
51117	COQ4	HP:0002505	Loss of ambulation	1/5	OMIM:616276
51117	COQ4	HP:0001332	Dystonia	2/2	OMIM:616276
51117	COQ4	HP:0033725	Thin corpus callosum	8/12	OMIM:616276
51117	COQ4	HP:0001324	Muscle weakness	1/1	OMIM:616276
51117	COQ4	HP:0000007	Autosomal recessive inheritance	-	OMIM:620666
51117	COQ4	HP:0000007	Autosomal recessive inheritance	-	OMIM:616276
51117	COQ4	HP:0001310	Dysmetria	1/1	OMIM:616276
51117	COQ4	HP:0001320	Cerebellar vermis hypoplasia	1/6	OMIM:620666
51117	COQ4	HP:0002650	Scoliosis	1/1	OMIM:616276
51117	COQ4	HP:0001321	Cerebellar hypoplasia	11/18	OMIM:616276
51117	COQ4	HP:0002015	Dysphagia	7/8	OMIM:616276
51117	COQ4	HP:0100543	Cognitive impairment	3/14	OMIM:620666
51117	COQ4	HP:0002093	Respiratory insufficiency	4/4	OMIM:616276
51117	COQ4	HP:0002069	Bilateral tonic-clonic seizure	3/7	OMIM:616276
51117	COQ4	HP:0002066	Gait ataxia	5/13	OMIM:620666
51117	COQ4	HP:0002061	Lower limb spasticity	12/15	OMIM:620666
51117	COQ4	HP:0002070	Limb ataxia	5/13	OMIM:620666
51117	COQ4	HP:0002059	Cerebral atrophy	6/9	OMIM:616276
51117	COQ4	HP:0003487	Babinski sign	10/16	OMIM:620666
51117	COQ4	HP:0002151	Increased circulating lactate concentration	20/24	OMIM:616276
51117	COQ4	HP:0002104	Apnea	1/2	OMIM:616276
51117	COQ4	HP:0011924	Decreased activity of mitochondrial complex III	2/3	OMIM:616276
51117	COQ4	HP:0002174	Postural tremor	2/6	OMIM:620666
51117	COQ4	HP:0002172	Postural instability	1/1	OMIM:620666
51117	COQ4	HP:0002172	Postural instability	1/1	OMIM:616276
51117	COQ4	HP:0003596	Middle age onset	1/7	OMIM:620666
51117	COQ4	HP:0003593	Infantile onset	8/16	OMIM:616276
51117	COQ4	HP:0003577	Congenital onset	9/23	OMIM:616276
51117	COQ4	HP:0100704	Cerebral visual impairment	5/11	OMIM:616276
51117	COQ4	HP:0200134	Epileptic encephalopathy	1/3	OMIM:616276
51117	COQ4	HP:0011968	Feeding difficulties	10/15	OMIM:616276
51117	COQ4	HP:0008314	Decreased activity of mitochondrial complex II	1/3	OMIM:616276
51117	COQ4	HP:0002384	Focal impaired awareness seizure	1/1	OMIM:616276
51117	COQ4	HP:0002395	Lower limb hyperreflexia	14/16	OMIM:620666
51117	COQ4	HP:0001063	Acrocyanosis	1/3	OMIM:616276
51117	COQ4	HP:0002342	Intellectual disability, moderate	1/1	OMIM:616276
51117	COQ4	HP:0003623	Neonatal onset	5/13	OMIM:616276
51117	COQ4	HP:0003621	Juvenile onset	7/15	OMIM:620666
51117	COQ4	HP:0003621	Juvenile onset	1/2	OMIM:616276
51117	COQ4	HP:0006813	Focal hemiclonic seizure	1/12	OMIM:616276
51117	COQ4	HP:0000639	Nystagmus	1/1	OMIM:616276
51117	COQ4	HP:0012666	Severely reduced left ventricular ejection fraction	1/2	OMIM:616276
51117	COQ4	HP:0001987	Hyperammonemia	2/2	OMIM:616276
51117	COQ4	HP:0006986	Upper limb spasticity	0/6	OMIM:620666
51117	COQ4	HP:0031993	Hoffmann sign	1/1	OMIM:620666
51117	COQ4	HP:0004383	Hypoplastic left heart	HP:0040284	OMIM:616276
51117	COQ4	HP:0005684	Distal arthrogryposis	2/4	OMIM:616276
51117	COQ4	HP:0011410	Caesarean section	4/6	OMIM:616276
51117	COQ4	HP:0012707	Elevated brain lactate level by MRS	3/4	OMIM:616276
51117	COQ4	HP:0011463	Childhood onset	1/7	OMIM:620666
51117	COQ4	HP:0011463	Childhood onset	1/2	OMIM:616276
51117	COQ4	HP:0011462	Young adult onset	6/15	OMIM:620666
51117	COQ4	HP:0011461	Fetal onset	3/5	OMIM:616276
51117	COQ4	HP:0011449	Knee clonus	1/1	OMIM:620666
51117	COQ4	HP:0011448	Ankle clonus	1/1	OMIM:620666
51117	COQ4	HP:0003198	Myopathy	1/5	OMIM:616276
51117	COQ4	HP:0003236	Elevated circulating creatine kinase concentration	1/5	OMIM:616276
51117	COQ4	HP:0003259	Elevated circulating creatinine concentration	0/6	OMIM:616276
51117	COQ4	HP:0034369	Decreased level of coenzyme Q10 in skeletal muscle	5/5	OMIM:616276
51117	COQ4	HP:0000286	Epicanthus	1/1	OMIM:616276
51117	COQ4	HP:0000280	Coarse facial features	1/1	OMIM:616276
51117	COQ4	HP:0001508	Failure to thrive	2/2	OMIM:616276
51117	COQ4	HP:0001511	Intrauterine growth retardation	1/9	OMIM:616276
51117	COQ4	HP:0002910	Elevated circulating hepatic transaminase concentration	0/5	OMIM:616276
51117	COQ4	HP:0000365	Hearing impairment	10/14	OMIM:616276
51117	COQ4	HP:0025664	Moderate to late preterm birth	2/11	OMIM:616276
51117	COQ4	HP:0001643	Patent ductus arteriosus	0/2	OMIM:616276
51117	COQ4	HP:0001662	Bradycardia	1/3	OMIM:616276
51117	COQ4	HP:0001629	Ventricular septal defect	1/1	OMIM:616276
51117	COQ4	HP:0001639	Hypertrophic cardiomyopathy	4/12	OMIM:616276
51117	COQ4	HP:0025722	Cerebral infarct	2/3	OMIM:616276
51117	COQ4	HP:0000505	Visual impairment	1/3	OMIM:620666
51119	SBDS	HP:0001167	Abnormal finger morphology	HP:0040284	ORPHA:811
51119	SBDS	HP:0410255	Transiently decreased total neutrophil count	HP:0040282	ORPHA:811
51119	SBDS	HP:0410252	Persistently decreased total neutrophil count	HP:0040282	ORPHA:811
51119	SBDS	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
51119	SBDS	HP:0001293	Cranial nerve compression	-	OMIM:131300
51119	SBDS	HP:0100806	Sepsis	HP:0040284	ORPHA:811
51119	SBDS	HP:0001256	Intellectual disability, mild	-	OMIM:260400
51119	SBDS	HP:0001252	Hypotonia	2/7	OMIM:615777
51119	SBDS	HP:0001249	Intellectual disability	HP:0040283	ORPHA:811
51119	SBDS	HP:0001249	Intellectual disability	5/7	OMIM:615777
51119	SBDS	HP:0002594	Pancreatic hypoplasia	HP:0040282	ORPHA:811
51119	SBDS	HP:0001263	Global developmental delay	-	OMIM:260400
51119	SBDS	HP:0001263	Global developmental delay	-	OMIM:615777
51119	SBDS	HP:0002570	Steatorrhea	-	OMIM:260400
51119	SBDS	HP:0002570	Steatorrhea	HP:0040282	ORPHA:811
51119	SBDS	HP:0410289	Hypoamylasemia	HP:0040282	ORPHA:811
51119	SBDS	HP:0002515	Waddling gait	54/102	OMIM:131300
51119	SBDS	HP:0001367	Abnormal joint morphology	HP:0040283	ORPHA:811
51119	SBDS	HP:0001382	Joint hypermobility	-	OMIM:615777
51119	SBDS	HP:0002694	Sclerosis of skull base	-	OMIM:131300
51119	SBDS	HP:0008897	Postnatal growth retardation	-	OMIM:615777
51119	SBDS	HP:0001328	Specific learning disability	-	OMIM:260400
51119	SBDS	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
51119	SBDS	HP:0001324	Muscle weakness	40/96	OMIM:131300
51119	SBDS	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
51119	SBDS	HP:0000007	Autosomal recessive inheritance	-	OMIM:260400
51119	SBDS	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
51119	SBDS	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
51119	SBDS	HP:0002650	Scoliosis	12/14	OMIM:131300
51119	SBDS	HP:0002643	Neonatal respiratory distress	-	OMIM:260400
51119	SBDS	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
51119	SBDS	HP:0002630	Fat malabsorption	HP:0040281	ORPHA:811
51119	SBDS	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
51119	SBDS	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
51119	SBDS	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
51119	SBDS	HP:0000175	Cleft palate	2/7	OMIM:615777
51119	SBDS	HP:0000155	Oral ulcer	HP:0040284	ORPHA:811
51119	SBDS	HP:0000121	Nephrocalcinosis	-	OMIM:260400
51119	SBDS	HP:0002754	Osteomyelitis	HP:0040284	ORPHA:811
51119	SBDS	HP:0002750	Delayed skeletal maturation	-	OMIM:260400
51119	SBDS	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:811
51119	SBDS	HP:0002719	Recurrent infections	HP:0040283	ORPHA:88
51119	SBDS	HP:0002719	Recurrent infections	-	OMIM:260400
51119	SBDS	HP:0002718	Recurrent bacterial infections	HP:0040283	ORPHA:811
51119	SBDS	HP:0002721	Immunodeficiency	HP:0040284	ORPHA:811
51119	SBDS	HP:0003300	Ovoid vertebral bodies	-	OMIM:260400
51119	SBDS	HP:0002098	Respiratory distress	-	OMIM:260400
51119	SBDS	HP:0002090	Pneumonia	HP:0040283	ORPHA:811
51119	SBDS	HP:0003375	Narrow greater sciatic notch	-	OMIM:260400
51119	SBDS	HP:0003388	Easy fatigability	36/76	OMIM:131300
51119	SBDS	HP:0100512	Decreased circulating vitamin D concentration	HP:0040282	ORPHA:811
51119	SBDS	HP:0100513	Decreased circulating vitamin E concentration	HP:0040282	ORPHA:811
51119	SBDS	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
51119	SBDS	HP:0003411	Proximal femoral metaphyseal irregularity	6/6	OMIM:260400
51119	SBDS	HP:0011904	Persistence of hemoglobin F	-	OMIM:260400
51119	SBDS	HP:0011892	Decreased circulating vitamin K concentration	HP:0040282	ORPHA:811
51119	SBDS	HP:0002240	Hepatomegaly	-	OMIM:260400
51119	SBDS	HP:0002240	Hepatomegaly	HP:0040284	ORPHA:811
51119	SBDS	HP:0003510	Severe short stature	7/7	OMIM:615777
51119	SBDS	HP:0004808	Acute myeloid leukemia	-	OMIM:260400
51119	SBDS	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:811
51119	SBDS	HP:0004979	Metaphyseal sclerosis	-	OMIM:260400
51119	SBDS	HP:0002315	Headache	-	OMIM:131300
51119	SBDS	HP:0004976	Knee dislocation	6/7	OMIM:615777
51119	SBDS	HP:0009803	Short phalanx of finger	-	OMIM:615777
51119	SBDS	HP:0009763	Limb pain	63/92	OMIM:131300
51119	SBDS	HP:0003621	Juvenile onset	-	OMIM:131300
51119	SBDS	HP:0004905	Reduced circulating vitamin A concentration	HP:0040282	ORPHA:811
51119	SBDS	HP:0005528	Bone marrow hypocellularity	-	OMIM:609135
51119	SBDS	HP:0005528	Bone marrow hypocellularity	HP:0040283	ORPHA:811
51119	SBDS	HP:0005528	Bone marrow hypocellularity	HP:0040281	ORPHA:88
51119	SBDS	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
51119	SBDS	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:811
51119	SBDS	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
51119	SBDS	HP:6001056	Out-toeing	-	OMIM:131300
51119	SBDS	HP:0000651	Diplopia	-	OMIM:131300
51119	SBDS	HP:0001972	Macrocytic anemia	HP:0040282	ORPHA:811
51119	SBDS	HP:0001956	Truncal obesity	2/7	OMIM:615777
51119	SBDS	HP:0001909	Leukemia	HP:0040283	ORPHA:811
51119	SBDS	HP:0001903	Anemia	-	OMIM:260400
51119	SBDS	HP:0001903	Anemia	HP:0040281	ORPHA:811
51119	SBDS	HP:0001903	Anemia	HP:0040280	ORPHA:88
51119	SBDS	HP:0001903	Anemia	HP:0040283	OMIM:131300
51119	SBDS	HP:0001915	Aplastic anemia	HP:0040280	OMIM:609135
51119	SBDS	HP:0001915	Aplastic anemia	HP:0040283	ORPHA:811
51119	SBDS	HP:0010049	Short metacarpal	-	OMIM:615777
51119	SBDS	HP:0000684	Delayed eruption of teeth	HP:0040284	ORPHA:811
51119	SBDS	HP:0000678	Dental crowding	-	OMIM:615777
51119	SBDS	HP:0000670	Carious teeth	HP:0040283	ORPHA:811
51119	SBDS	HP:0000670	Carious teeth	-	OMIM:131300
51119	SBDS	HP:0011304	Broad thumb	2/7	OMIM:615777
51119	SBDS	HP:0000668	Hypodontia	-	OMIM:615777
51119	SBDS	HP:0000664	Synophrys	-	OMIM:615777
51119	SBDS	HP:0004322	Short stature	HP:0040282	ORPHA:811
51119	SBDS	HP:0004322	Short stature	-	OMIM:260400
51119	SBDS	HP:0004396	Poor appetite	-	OMIM:131300
51119	SBDS	HP:0004395	Malnutrition	HP:0040282	ORPHA:811
51119	SBDS	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
51119	SBDS	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
51119	SBDS	HP:0003016	Metaphyseal widening	-	OMIM:260400
51119	SBDS	HP:0003016	Metaphyseal widening	HP:0040283	ORPHA:811
51119	SBDS	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
51119	SBDS	HP:0003026	Short long bone	7/7	OMIM:615777
51119	SBDS	HP:0003025	Metaphyseal irregularity	HP:0040283	ORPHA:811
51119	SBDS	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
51119	SBDS	HP:0000767	Pectus excavatum	2/7	OMIM:615777
51119	SBDS	HP:0000768	Pectus carinatum	1/7	OMIM:615777
51119	SBDS	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
51119	SBDS	HP:0000736	Short attention span	HP:0040283	ORPHA:811
51119	SBDS	HP:0000750	Delayed speech and language development	-	OMIM:615777
51119	SBDS	HP:0000729	Autistic behavior	HP:0040283	ORPHA:811
51119	SBDS	HP:0000708	Atypical behavior	HP:0040282	ORPHA:811
51119	SBDS	HP:0011461	Fetal onset	7/7	OMIM:615777
51119	SBDS	HP:0000774	Narrow chest	-	OMIM:260400
51119	SBDS	HP:0000774	Narrow chest	2/7	OMIM:615777
51119	SBDS	HP:0004429	Recurrent viral infections	HP:0040283	ORPHA:811
51119	SBDS	HP:0000924	Abnormality of the skeletal system	HP:0040281	ORPHA:811
51119	SBDS	HP:0000926	Platyspondyly	1/7	OMIM:615777
51119	SBDS	HP:0000920	Enlargement of the costochondral junction	-	OMIM:260400
51119	SBDS	HP:0003180	Flat acetabular roof	-	OMIM:615777
51119	SBDS	HP:0000907	Anterior rib cupping	6/6	OMIM:260400
51119	SBDS	HP:0004482	Relative macrocephaly	-	OMIM:615777
51119	SBDS	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
51119	SBDS	HP:0000886	Deformed rib cage	HP:0040283	ORPHA:811
51119	SBDS	HP:0000819	Diabetes mellitus	HP:0040284	ORPHA:811
51119	SBDS	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040284	ORPHA:811
51119	SBDS	HP:0000823	Delayed puberty	-	OMIM:131300
51119	SBDS	HP:0040075	Hypopituitarism	HP:0040284	ORPHA:811
51119	SBDS	HP:0000894	Short clavicles	-	OMIM:615777
51119	SBDS	HP:0005871	Metaphyseal chondrodysplasia	-	OMIM:260400
51119	SBDS	HP:0005871	Metaphyseal chondrodysplasia	HP:0040283	ORPHA:811
51119	SBDS	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
51119	SBDS	HP:0040238	Impaired neutrophil chemotaxis	HP:0040282	ORPHA:811
51119	SBDS	HP:0045027	Abnormality of the thoracic cavity	HP:0040283	ORPHA:811
51119	SBDS	HP:0000988	Skin rash	HP:0040283	ORPHA:811
51119	SBDS	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
51119	SBDS	HP:0000964	Eczematoid dermatitis	HP:0040284	ORPHA:811
51119	SBDS	HP:0000938	Osteopenia	HP:0040283	ORPHA:811
51119	SBDS	HP:0008064	Ichthyosis	HP:0040284	ORPHA:811
51119	SBDS	HP:0000286	Epicanthus	1/7	OMIM:615777
51119	SBDS	HP:0000280	Coarse facial features	2/7	OMIM:615777
51119	SBDS	HP:0006461	Proximal femoral epiphysiolysis	-	OMIM:260400
51119	SBDS	HP:0006461	Proximal femoral epiphysiolysis	HP:0040284	ORPHA:811
51119	SBDS	HP:0030057	Autoimmune antibody positivity	-	ORPHA:88
51119	SBDS	HP:0002812	Coxa vara	-	OMIM:260400
51119	SBDS	HP:0002827	Hip dislocation	3/7	OMIM:615777
51119	SBDS	HP:0000252	Microcephaly	-	OMIM:615777
51119	SBDS	HP:0000246	Sinusitis	HP:0040283	ORPHA:811
51119	SBDS	HP:0012202	Increased serum bile acid concentration	HP:0040282	ORPHA:811
51119	SBDS	HP:0000225	Gingival bleeding	HP:0040283	ORPHA:88
51119	SBDS	HP:0002857	Genu valgum	-	OMIM:131300
51119	SBDS	HP:0001533	Slender build	-	OMIM:131300
51119	SBDS	HP:0002863	Myelodysplasia	-	OMIM:260400
51119	SBDS	HP:0002863	Myelodysplasia	HP:0040282	ORPHA:811
51119	SBDS	HP:0031364	Ecchymosis	HP:0040283	ORPHA:88
51119	SBDS	HP:0001508	Failure to thrive	HP:0040282	ORPHA:811
51119	SBDS	HP:0001508	Failure to thrive	-	OMIM:260400
51119	SBDS	HP:0001518	Small for gestational age	-	OMIM:260400
51119	SBDS	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
51119	SBDS	HP:0001510	Growth delay	HP:0040282	ORPHA:811
51119	SBDS	HP:0007807	Optic nerve compression	-	OMIM:131300
51119	SBDS	HP:0012368	Flat face	7/7	OMIM:615777
51119	SBDS	HP:0006598	Irregular ossification at anterior rib ends	-	OMIM:260400
51119	SBDS	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
51119	SBDS	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040284	ORPHA:811
51119	SBDS	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:260400
51119	SBDS	HP:0000365	Hearing impairment	HP:0040284	ORPHA:811
51119	SBDS	HP:0000365	Hearing impairment	10/67	OMIM:131300
51119	SBDS	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040281	ORPHA:811
51119	SBDS	HP:0000356	Abnormality of the outer ear	HP:0040284	ORPHA:811
51119	SBDS	HP:0000343	Long philtrum	1/7	OMIM:615777
51119	SBDS	HP:0011001	Increased bone mineral density	-	OMIM:131300
51119	SBDS	HP:0000311	Round face	2/7	OMIM:615777
51119	SBDS	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:811
51119	SBDS	HP:0002953	Vertebral compression fracture	HP:0040283	ORPHA:811
51119	SBDS	HP:0002970	Genu varum	-	OMIM:615777
51119	SBDS	HP:0000303	Mandibular prognathia	-	OMIM:131300
51119	SBDS	HP:0001738	Exocrine pancreatic insufficiency	-	OMIM:260400
51119	SBDS	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:811
51119	SBDS	HP:0001700	Myocardial necrosis	-	OMIM:260400
51119	SBDS	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
51119	SBDS	HP:0000470	Short neck	1/7	OMIM:615777
51119	SBDS	HP:0001769	Broad foot	HP:0040283	OMIM:615777
51119	SBDS	HP:0001763	Pes planus	1/7	OMIM:615777
51119	SBDS	HP:0000421	Epistaxis	HP:0040283	ORPHA:88
51119	SBDS	HP:0001840	Metatarsus adductus	-	OMIM:615777
51119	SBDS	HP:0000520	Proptosis	2/4	OMIM:131300
51119	SBDS	HP:0000520	Proptosis	7/7	OMIM:615777
51119	SBDS	HP:0000592	Blue sclerae	2/7	OMIM:615777
51119	SBDS	HP:0000573	Retinal hemorrhage	HP:0040283	ORPHA:88
51119	SBDS	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:88
51119	SBDS	HP:0001897	Normocytic anemia	HP:0040282	ORPHA:811
51119	SBDS	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:811
51119	SBDS	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
51119	SBDS	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:811
51119	SBDS	HP:0012514	Lower limb pain	4/4	OMIM:131300
51119	SBDS	HP:0001873	Thrombocytopenia	-	OMIM:260400
51119	SBDS	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:811
51119	SBDS	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:88
51119	SBDS	HP:0001876	Pancytopenia	-	OMIM:260400
51119	SBDS	HP:0001876	Pancytopenia	HP:0040283	ORPHA:811
51119	SBDS	HP:0001876	Pancytopenia	HP:0040282	ORPHA:88
51119	SBDS	HP:0001875	Decreased total neutrophil count	HP:0040281	ORPHA:811
51119	SBDS	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:88
51119	SBDS	HP:0001875	Decreased total neutrophil count	-	OMIM:260400
51124	IER3IP1	HP:0010851	EEG with burst suppression	1/2	OMIM:614231
51124	IER3IP1	HP:0009879	Simplified gyral pattern	2/2	OMIM:614231
51124	IER3IP1	HP:0001250	Seizure	-	OMIM:614231
51124	IER3IP1	HP:0001252	Hypotonia	1/2	OMIM:614231
51124	IER3IP1	HP:0001263	Global developmental delay	2/2	OMIM:614231
51124	IER3IP1	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/2	OMIM:614231
51124	IER3IP1	HP:0002521	Hypsarrhythmia	2/2	OMIM:614231
51124	IER3IP1	HP:0000046	Small scrotum	HP:0040283	OMIM:614231
51124	IER3IP1	HP:0001348	Brisk reflexes	-	OMIM:614231
51124	IER3IP1	HP:0000028	Cryptorchidism	HP:0040283	OMIM:614231
51124	IER3IP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614231
51124	IER3IP1	HP:0001321	Cerebellar hypoplasia	HP:0040283	OMIM:614231
51124	IER3IP1	HP:0001319	Neonatal hypotonia	-	OMIM:614231
51124	IER3IP1	HP:0000135	Hypogonadism	3/12	OMIM:614231
51124	IER3IP1	HP:0008936	Axial hypotonia	-	OMIM:614231
51124	IER3IP1	HP:0002756	Pathologic fracture	HP:0040283	OMIM:614231
51124	IER3IP1	HP:0002069	Bilateral tonic-clonic seizure	2/2	OMIM:614231
51124	IER3IP1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:614231
51124	IER3IP1	HP:0002123	Generalized myoclonic seizure	1/2	OMIM:614231
51124	IER3IP1	HP:0002188	Delayed CNS myelination	1/2	OMIM:614231
51124	IER3IP1	HP:0002187	Intellectual disability, profound	-	OMIM:614231
51124	IER3IP1	HP:0002197	Generalized-onset seizure	1/2	OMIM:614231
51124	IER3IP1	HP:0003577	Congenital onset	2/2	OMIM:614231
51124	IER3IP1	HP:0002205	Recurrent respiratory infections	-	OMIM:614231
51124	IER3IP1	HP:0011968	Feeding difficulties	-	OMIM:614231
51124	IER3IP1	HP:0010804	Tented upper lip vermilion	-	OMIM:614231
51124	IER3IP1	HP:0000648	Optic atrophy	HP:0040283	OMIM:614231
51124	IER3IP1	HP:0011451	Primary microcephaly	2/2	OMIM:614231
51124	IER3IP1	HP:0000819	Diabetes mellitus	2/2	OMIM:614231
51124	IER3IP1	HP:0003241	External genital hypoplasia	HP:0040283	OMIM:614231
51124	IER3IP1	HP:0000952	Jaundice	-	OMIM:614231
51124	IER3IP1	HP:0000938	Osteopenia	HP:0040283	OMIM:614231
51124	IER3IP1	HP:0000293	Full cheeks	-	OMIM:614231
51124	IER3IP1	HP:0000218	High palate	-	OMIM:614231
51124	IER3IP1	HP:0000212	Gingival overgrowth	HP:0040283	OMIM:614231
51124	IER3IP1	HP:0001513	Obesity	1/2	OMIM:614231
51124	IER3IP1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	OMIM:614231
51124	IER3IP1	HP:0000341	Narrow forehead	-	OMIM:614231
51124	IER3IP1	HP:0032794	Myoclonic seizure	1/2	OMIM:614231
51124	IER3IP1	HP:0000463	Anteverted nares	-	OMIM:614231
51124	IER3IP1	HP:0000508	Ptosis	-	OMIM:614231
51124	IER3IP1	HP:0012594	Moderate albuminuria	HP:0040283	OMIM:614231
51126	NAA20	HP:0002465	Poor speech	1/5	OMIM:619717
51126	NAA20	HP:0001290	Generalized hypotonia	2/5	OMIM:619717
51126	NAA20	HP:0001252	Hypotonia	1/5	OMIM:619717
51126	NAA20	HP:0001249	Intellectual disability	3/3	OMIM:619717
51126	NAA20	HP:0001263	Global developmental delay	5/5	OMIM:619717
51126	NAA20	HP:0001347	Hyperreflexia	1/5	OMIM:619717
51126	NAA20	HP:0000007	Autosomal recessive inheritance	-	OMIM:619717
51126	NAA20	HP:0002650	Scoliosis	1/5	OMIM:619717
51126	NAA20	HP:0002033	Poor suck	1/5	OMIM:619717
51126	NAA20	HP:0002002	Deep philtrum	1/5	OMIM:619717
51126	NAA20	HP:0002066	Gait ataxia	1/5	OMIM:619717
51126	NAA20	HP:0003593	Infantile onset	1/5	OMIM:619717
51126	NAA20	HP:0100710	Impulsivity	1/5	OMIM:619717
51126	NAA20	HP:0011968	Feeding difficulties	1/5	OMIM:619717
51126	NAA20	HP:0002370	Poor coordination	1/5	OMIM:619717
51126	NAA20	HP:0003623	Neonatal onset	1/5	OMIM:619717
51126	NAA20	HP:0002307	Drooling	1/5	OMIM:619717
51126	NAA20	HP:0004209	Clinodactyly of the 5th finger	2/5	OMIM:619717
51126	NAA20	HP:0000687	Widely spaced teeth	1/5	OMIM:619717
51126	NAA20	HP:0030674	Antenatal onset	3/5	OMIM:619717
51126	NAA20	HP:0100023	Recurrent hand flapping	1/5	OMIM:619717
51126	NAA20	HP:0000737	Irritability	1/5	OMIM:619717
51126	NAA20	HP:0000717	Autism	1/5	OMIM:619717
51126	NAA20	HP:0000954	Single transverse palmar crease	2/5	OMIM:619717
51126	NAA20	HP:0000938	Osteopenia	1/5	OMIM:619717
51126	NAA20	HP:0000286	Epicanthus	1/5	OMIM:619717
51126	NAA20	HP:0000268	Dolichocephaly	1/5	OMIM:619717
51126	NAA20	HP:0000215	Thick upper lip vermilion	1/5	OMIM:619717
51126	NAA20	HP:0001558	Decreased fetal movement	2/5	OMIM:619717
51126	NAA20	HP:0005216	Impaired mastication	1/5	OMIM:619717
51126	NAA20	HP:0000358	Posteriorly rotated ears	1/5	OMIM:619717
51126	NAA20	HP:0000369	Low-set ears	1/5	OMIM:619717
51126	NAA20	HP:0000341	Narrow forehead	1/5	OMIM:619717
51126	NAA20	HP:0000350	Small forehead	1/5	OMIM:619717
51126	NAA20	HP:0001643	Patent ductus arteriosus	1/5	OMIM:619717
51126	NAA20	HP:0001629	Ventricular septal defect	2/5	OMIM:619717
51126	NAA20	HP:0032988	Persistent head lag	1/5	OMIM:619717
51126	NAA20	HP:0000494	Downslanted palpebral fissures	2/5	OMIM:619717
51126	NAA20	HP:0001763	Pes planus	1/5	OMIM:619717
51128	SAR1B	HP:0002495	Impaired vibratory sensation	-	OMIM:246700
51128	SAR1B	HP:0001284	Areflexia	HP:0040284	ORPHA:71
51128	SAR1B	HP:0001249	Intellectual disability	-	OMIM:246700
51128	SAR1B	HP:0002570	Steatorrhea	-	OMIM:246700
51128	SAR1B	HP:0002570	Steatorrhea	HP:0040281	ORPHA:71
51128	SAR1B	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:71
51128	SAR1B	HP:0000007	Autosomal recessive inheritance	-	OMIM:246700
51128	SAR1B	HP:0001315	Reduced tendon reflexes	-	OMIM:246700
51128	SAR1B	HP:0002630	Fat malabsorption	HP:0040281	ORPHA:71
51128	SAR1B	HP:0012153	Hypotriglyceridemia	-	OMIM:246700
51128	SAR1B	HP:0002014	Diarrhea	HP:0040280	ORPHA:71
51128	SAR1B	HP:0002014	Diarrhea	-	OMIM:246700
51128	SAR1B	HP:0002013	Vomiting	HP:0040282	ORPHA:71
51128	SAR1B	HP:0002013	Vomiting	-	OMIM:246700
51128	SAR1B	HP:0100508	Abnormality of vitamin metabolism	HP:0040282	ORPHA:71
51128	SAR1B	HP:0002155	Hypertriglyceridemia	-	ORPHA:71
51128	SAR1B	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:71
51128	SAR1B	HP:0003593	Infantile onset	-	OMIM:246700
51128	SAR1B	HP:0003563	Decreased LDL cholesterol concentration	-	OMIM:246700
51128	SAR1B	HP:0010831	Impaired proprioception	HP:0040284	ORPHA:71
51128	SAR1B	HP:0034787	Accumulation of lipid droplets in small-bowel enterocytes	-	OMIM:246700
51128	SAR1B	HP:0001927	Acanthocytosis	HP:0040284	ORPHA:71
51128	SAR1B	HP:0003073	Hypoalbuminemia	-	OMIM:246700
51128	SAR1B	HP:0004395	Malnutrition	-	OMIM:246700
51128	SAR1B	HP:0003198	Myopathy	HP:0040284	ORPHA:71
51128	SAR1B	HP:0003146	Hypocholesterolemia	-	OMIM:246700
51128	SAR1B	HP:0003146	Hypocholesterolemia	HP:0040280	ORPHA:71
51128	SAR1B	HP:0003270	Abdominal distention	HP:0040282	ORPHA:71
51128	SAR1B	HP:0001508	Failure to thrive	HP:0040282	ORPHA:71
51128	SAR1B	HP:0001508	Failure to thrive	-	OMIM:246700
51128	SAR1B	HP:0001510	Growth delay	HP:0040282	ORPHA:71
51128	SAR1B	HP:0001510	Growth delay	-	OMIM:246700
51128	SAR1B	HP:0006565	Increased hepatocellular lipid droplets	HP:0040282	ORPHA:71
51128	SAR1B	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:71
51128	SAR1B	HP:0000488	Retinopathy	HP:0040281	ORPHA:71
51128	SAR1B	HP:0000505	Visual impairment	HP:0040283	ORPHA:71
51132	RLIM	HP:0001156	Brachydactyly	-	OMIM:300978
51132	RLIM	HP:0002465	Poor speech	-	OMIM:300978
51132	RLIM	HP:0100962	Excessive shyness	-	OMIM:300978
51132	RLIM	HP:0001290	Generalized hypotonia	-	OMIM:300978
51132	RLIM	HP:0001249	Intellectual disability	4/4	OMIM:300978
51132	RLIM	HP:0001263	Global developmental delay	-	OMIM:300978
51132	RLIM	HP:0001257	Spasticity	-	OMIM:300978
51132	RLIM	HP:0008734	Decreased testicular size	-	OMIM:300978
51132	RLIM	HP:0000054	Micropenis	-	OMIM:300978
51132	RLIM	HP:0000047	Hypospadias	-	OMIM:300978
51132	RLIM	HP:0001347	Hyperreflexia	-	OMIM:300978
51132	RLIM	HP:0000028	Cryptorchidism	-	OMIM:300978
51132	RLIM	HP:0001337	Tremor	-	OMIM:300978
51132	RLIM	HP:0000160	Narrow mouth	-	OMIM:300978
51132	RLIM	HP:0001419	X-linked recessive inheritance	-	OMIM:300978
51132	RLIM	HP:0002714	Downturned corners of mouth	-	OMIM:300978
51132	RLIM	HP:0002015	Dysphagia	-	OMIM:300978
51132	RLIM	HP:0002089	Pulmonary hypoplasia	HP:0040284	OMIM:300978
51132	RLIM	HP:0002136	Broad-based gait	-	OMIM:300978
51132	RLIM	HP:0003593	Infantile onset	4/4	OMIM:300978
51132	RLIM	HP:0100716	Self-injurious behavior	-	OMIM:300978
51132	RLIM	HP:0002213	Fine hair	2/3	OMIM:300978
51132	RLIM	HP:0011968	Feeding difficulties	2/3	OMIM:300978
51132	RLIM	HP:0000635	Blue irides	1/3	OMIM:300978
51132	RLIM	HP:0000601	Hypotelorism	-	OMIM:300978
51132	RLIM	HP:0000687	Widely spaced teeth	1/3	OMIM:300978
51132	RLIM	HP:0011304	Broad thumb	-	OMIM:300978
51132	RLIM	HP:0004322	Short stature	-	OMIM:300978
51132	RLIM	HP:0000739	Anxiety	-	OMIM:300978
51132	RLIM	HP:0000750	Delayed speech and language development	3/3	OMIM:300978
51132	RLIM	HP:0000718	Aggressive behavior	-	OMIM:300978
51132	RLIM	HP:0000729	Autistic behavior	3/4	OMIM:300978
51132	RLIM	HP:0000708	Atypical behavior	-	OMIM:300978
51132	RLIM	HP:0000776	Congenital diaphragmatic hernia	HP:0040284	OMIM:300978
51132	RLIM	HP:0000275	Narrow face	-	OMIM:300978
51132	RLIM	HP:0000272	Malar flattening	-	OMIM:300978
51132	RLIM	HP:0001598	Concave nail	1/3	OMIM:300978
51132	RLIM	HP:0000252	Microcephaly	-	OMIM:300978
51132	RLIM	HP:0000220	Velopharyngeal insufficiency	-	OMIM:300978
51132	RLIM	HP:0001510	Growth delay	-	OMIM:300978
51132	RLIM	HP:0000337	Broad forehead	3/3	OMIM:300978
51132	RLIM	HP:0000347	Micrognathia	-	OMIM:300978
51132	RLIM	HP:0000316	Hypertelorism	2/3	OMIM:300978
51132	RLIM	HP:0001627	Abnormal heart morphology	HP:0040284	OMIM:300978
51132	RLIM	HP:0000494	Downslanted palpebral fissures	-	OMIM:300978
51132	RLIM	HP:0001792	Small nail	-	OMIM:300978
51132	RLIM	HP:0001763	Pes planus	-	OMIM:300978
51132	RLIM	HP:0000448	Prominent nose	-	OMIM:300978
51132	RLIM	HP:0000444	Convex nasal ridge	1/3	OMIM:300978
51132	RLIM	HP:0000431	Wide nasal bridge	1/3	OMIM:300978
51132	RLIM	HP:0000426	Prominent nasal bridge	-	OMIM:300978
51134	CEP83	HP:0003774	Stage 5 chronic kidney disease	6/6	OMIM:615862
51134	CEP83	HP:0001249	Intellectual disability	2/6	OMIM:615862
51134	CEP83	HP:0000090	Nephronophthisis	6/6	OMIM:615862
51134	CEP83	HP:0000092	Renal tubular atrophy	6/6	OMIM:615862
51134	CEP83	HP:0001396	Cholestasis	2/6	OMIM:615862
51134	CEP83	HP:0000007	Autosomal recessive inheritance	-	OMIM:615862
51134	CEP83	HP:0004722	Thickened glomerular basement membrane	6/6	OMIM:615862
51134	CEP83	HP:0032118	Retinitis	1/6	OMIM:615862
51134	CEP83	HP:0001970	Tubulointerstitial nephritis	6/6	OMIM:615862
51134	CEP83	HP:0000822	Hypertension	2/6	OMIM:615862
51134	CEP83	HP:0000238	Hydrocephalus	1/6	OMIM:615862
51134	CEP83	HP:0006580	Portal fibrosis	1/6	OMIM:615862
51134	CEP83	HP:0000486	Strabismus	1/6	OMIM:615862
51135	IRAK4	HP:0410255	Transiently decreased total neutrophil count	-	OMIM:607676
51135	IRAK4	HP:0001287	Meningitis	1/1	OMIM:607676
51135	IRAK4	HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	1/1	OMIM:607676
51135	IRAK4	HP:0010975	Abnormal B cell count	0/1	OMIM:607676
51135	IRAK4	HP:0007499	Recurrent staphylococcal infections	3/3	OMIM:607676
51135	IRAK4	HP:0007499	Recurrent staphylococcal infections	HP:0040281	ORPHA:70592
51135	IRAK4	HP:0000007	Autosomal recessive inheritance	-	OMIM:607676
51135	IRAK4	HP:0002718	Recurrent bacterial infections	HP:0040281	ORPHA:70592
51135	IRAK4	HP:0002721	Immunodeficiency	-	OMIM:607676
51135	IRAK4	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:70592
51135	IRAK4	HP:0100523	Liver abscess	1/3	OMIM:607676
51135	IRAK4	HP:0011839	Abnormal T cell count	0/1	OMIM:607676
51135	IRAK4	HP:0003593	Infantile onset	3/3	OMIM:607676
51135	IRAK4	HP:0020096	Recurrent streptococcal infections	3/3	OMIM:607676
51135	IRAK4	HP:0001945	Fever	HP:0040283	ORPHA:70592
51135	IRAK4	HP:0011463	Childhood onset	1/1	OMIM:607676
51135	IRAK4	HP:0003095	Septic arthritis	1/1	OMIM:607676
51135	IRAK4	HP:0040089	Abnormal total natural killer cell count	0/1	OMIM:607676
51135	IRAK4	HP:0003212	Increased circulating IgE concentration	2/3	OMIM:607676
51135	IRAK4	HP:0005366	Recurrent streptococcus pneumoniae infections	HP:0040281	ORPHA:70592
51135	IRAK4	HP:0005406	Recurrent bacterial skin infections	HP:0040282	ORPHA:70592
51135	IRAK4	HP:0001875	Decreased total neutrophil count	HP:0040281	ORPHA:70592
51142	CHCHD2	HP:0001278	Orthostatic hypotension	2/12	OMIM:616710
51142	CHCHD2	HP:0001288	Gait disturbance	12/12	OMIM:616710
51142	CHCHD2	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	8/12	OMIM:616710
51142	CHCHD2	HP:0001347	Hyperreflexia	4/12	OMIM:616710
51142	CHCHD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616710
51142	CHCHD2	HP:0002019	Constipation	6/12	OMIM:616710
51142	CHCHD2	HP:0002067	Bradykinesia	10/12	OMIM:616710
51142	CHCHD2	HP:0002063	Rigidity	10/12	OMIM:616710
51142	CHCHD2	HP:0002172	Postural instability	6/12	OMIM:616710
51142	CHCHD2	HP:0003596	Middle age onset	5/12	OMIM:616710
51142	CHCHD2	HP:0003584	Late onset	7/12	OMIM:616710
51142	CHCHD2	HP:0002322	Resting tremor	10/12	OMIM:616710
51142	CHCHD2	HP:0000738	Hallucinations	0/12	OMIM:616710
51142	CHCHD2	HP:0000716	Depression	1/12	OMIM:616710
51142	CHCHD2	HP:0000726	Dementia	0/12	OMIM:616710
51142	CHCHD2	HP:0012452	Restless legs	0/12	OMIM:616710
51151	SLC45A2	HP:0001107	Ocular albinism	HP:0040282	ORPHA:79435
51151	SLC45A2	HP:0001104	Macular hypoplasia	-	OMIM:606574
51151	SLC45A2	HP:0003764	Nevus	HP:0040284	ORPHA:79435
51151	SLC45A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:606574
51151	SLC45A2	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:79435
51151	SLC45A2	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:79435
51151	SLC45A2	HP:0001022	Albinism	-	OMIM:606574
51151	SLC45A2	HP:0001022	Albinism	HP:0040282	ORPHA:79435
51151	SLC45A2	HP:0001072	Thickened skin	HP:0040282	ORPHA:79435
51151	SLC45A2	HP:0005599	Hypopigmentation of hair	-	OMIM:606574
51151	SLC45A2	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:79435
51151	SLC45A2	HP:0000639	Nystagmus	HP:0040281	ORPHA:79435
51151	SLC45A2	HP:0000639	Nystagmus	9/18	OMIM:606574
51151	SLC45A2	HP:0000635	Blue irides	-	OMIM:606574
51151	SLC45A2	HP:0000613	Photophobia	HP:0040282	ORPHA:79435
51151	SLC45A2	HP:0011364	White hair	HP:0040282	ORPHA:79435
51151	SLC45A2	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:79435
51151	SLC45A2	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:79435
51151	SLC45A2	HP:0025551	Optic nerve misrouting	HP:0040282	ORPHA:79435
51151	SLC45A2	HP:0007750	Hypoplasia of the fovea	HP:0040281	ORPHA:79435
51151	SLC45A2	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:79435
51151	SLC45A2	HP:0007894	Hypopigmentation of the fundus	-	OMIM:606574
51151	SLC45A2	HP:0000505	Visual impairment	-	OMIM:606574
51163	DBR1	HP:0001134	Anterior polar cataract	1/4	OMIM:620510
51163	DBR1	HP:0010946	Dilatation of the renal pelvis	1/4	OMIM:620510
51163	DBR1	HP:0008551	Microtia	1/4	OMIM:620510
51163	DBR1	HP:0001298	Encephalopathy	2/4	OMIM:620510
51163	DBR1	HP:0001250	Seizure	2/4	OMIM:620510
51163	DBR1	HP:0001347	Hyperreflexia	2/3	OMIM:620510
51163	DBR1	HP:0008897	Postnatal growth retardation	4/4	OMIM:620510
51163	DBR1	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	3/4	OMIM:620510
51163	DBR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620510
51163	DBR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619441
51163	DBR1	HP:0500049	Retinopathy of prematurity	2/4	OMIM:620510
51163	DBR1	HP:0002181	Cerebral edema	1/3	OMIM:620510
51163	DBR1	HP:0003593	Infantile onset	2/7	OMIM:619441
51163	DBR1	HP:0011968	Feeding difficulties	2/2	OMIM:620510
51163	DBR1	HP:0010783	Erythema	1/1	OMIM:620510
51163	DBR1	HP:0003621	Juvenile onset	3/7	OMIM:619441
51163	DBR1	HP:0011342	Mild global developmental delay	1/7	OMIM:619441
51163	DBR1	HP:0000656	Ectropion	3/4	OMIM:620510
51163	DBR1	HP:0030674	Antenatal onset	4/4	OMIM:620510
51163	DBR1	HP:0004349	Reduced bone mineral density	2/4	OMIM:620510
51163	DBR1	HP:0011463	Childhood onset	2/7	OMIM:619441
51163	DBR1	HP:0000958	Dry skin	1/1	OMIM:620510
51163	DBR1	HP:0000278	Retrognathia	1/4	OMIM:620510
51163	DBR1	HP:0033993	Viral encephalitis	7/7	OMIM:619441
51163	DBR1	HP:0001511	Intrauterine growth retardation	1/1	OMIM:620510
51163	DBR1	HP:0001511	Intrauterine growth retardation	1/7	OMIM:619441
51163	DBR1	HP:0012382	Left-to-right shunt	1/4	OMIM:620510
51163	DBR1	HP:0025664	Moderate to late preterm birth	4/4	OMIM:620510
51163	DBR1	HP:0000343	Long philtrum	2/4	OMIM:620510
51163	DBR1	HP:0000316	Hypertelorism	1/4	OMIM:620510
51163	DBR1	HP:0001631	Atrial septal defect	3/4	OMIM:620510
51163	DBR1	HP:0001712	Left ventricular hypertrophy	1/4	OMIM:620510
51163	DBR1	HP:0005281	Hypoplastic nasal bridge	1/4	OMIM:620510
51163	DBR1	HP:0012472	Eclabion	2/4	OMIM:620510
51163	DBR1	HP:0000494	Downslanted palpebral fissures	1/4	OMIM:620510
51163	DBR1	HP:0000586	Shallow orbits	1/4	OMIM:620510
51164	DCTN4	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
51164	DCTN4	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
51164	DCTN4	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
51164	DCTN4	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
51164	DCTN4	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
51164	DCTN4	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
51164	DCTN4	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
51164	DCTN4	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
51164	DCTN4	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
51164	DCTN4	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
51164	DCTN4	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
51164	DCTN4	HP:0002099	Asthma	HP:0040283	ORPHA:586
51164	DCTN4	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
51164	DCTN4	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
51164	DCTN4	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
51164	DCTN4	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
51164	DCTN4	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
51164	DCTN4	HP:0000739	Anxiety	HP:0040283	ORPHA:586
51164	DCTN4	HP:0000716	Depression	HP:0040283	ORPHA:586
51164	DCTN4	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
51164	DCTN4	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
51164	DCTN4	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
51164	DCTN4	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
51164	DCTN4	HP:0003251	Male infertility	HP:0040282	ORPHA:586
51164	DCTN4	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
51164	DCTN4	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
51164	DCTN4	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
51164	DCTN4	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
51164	DCTN4	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
51164	DCTN4	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
51164	DCTN4	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
51164	DCTN4	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
51164	DCTN4	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
51164	DCTN4	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
51164	DCTN4	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
51168	MYO15A	HP:0000007	Autosomal recessive inheritance	-	OMIM:600316
51168	MYO15A	HP:0003577	Congenital onset	-	OMIM:600316
51168	MYO15A	HP:0011476	Profound sensorineural hearing impairment	-	OMIM:600316
51181	DCXR	HP:0000007	Autosomal recessive inheritance	-	OMIM:260800
51181	DCXR	HP:0031979	Abnormal urine carbohydrate level	HP:0040281	ORPHA:2843
51181	DCXR	HP:0011021	Abnormal circulating enzyme concentration	HP:0040281	ORPHA:2843
51181	DCXR	HP:0011013	Abnormal circulating carbohydrate concentration	HP:0040282	ORPHA:2843
51181	DCXR	HP:0025742	Elevated urine L-xylulose level	-	OMIM:260800
51185	CRBN	HP:0010864	Intellectual disability, severe	5/5	OMIM:607417
51185	CRBN	HP:0001256	Intellectual disability, mild	10/10	OMIM:607417
51185	CRBN	HP:0001250	Seizure	4/5	OMIM:607417
51185	CRBN	HP:0001263	Global developmental delay	-	OMIM:607417
51185	CRBN	HP:0001344	Absent speech	1/5	OMIM:607417
51185	CRBN	HP:0000007	Autosomal recessive inheritance	-	OMIM:607417
51185	CRBN	HP:0003593	Infantile onset	-	OMIM:607417
51185	CRBN	HP:0100716	Self-injurious behavior	5/5	OMIM:607417
51185	CRBN	HP:0007018	Attention deficit hyperactivity disorder	2/5	OMIM:607417
51185	CRBN	HP:0031936	Delayed ability to walk	2/5	OMIM:607417
51196	PLCE1	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
51196	PLCE1	HP:0003774	Stage 5 chronic kidney disease	11/14	OMIM:610725
51196	PLCE1	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
51196	PLCE1	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
51196	PLCE1	HP:0000097	Focal segmental glomerulosclerosis	3/10	OMIM:610725
51196	PLCE1	HP:0000093	Proteinuria	-	OMIM:610725
51196	PLCE1	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
51196	PLCE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:610725
51196	PLCE1	HP:0000100	Nephrotic syndrome	14/14	OMIM:610725
51196	PLCE1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
51196	PLCE1	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
51196	PLCE1	HP:0003593	Infantile onset	7/14	OMIM:610725
51196	PLCE1	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
51196	PLCE1	HP:0003676	Progressive	-	OMIM:610725
51196	PLCE1	HP:0002315	Headache	HP:0040283	ORPHA:656
51196	PLCE1	HP:0003621	Juvenile onset	1/14	OMIM:610725
51196	PLCE1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
51196	PLCE1	HP:0001967	Diffuse mesangial sclerosis	8/10	OMIM:610725
51196	PLCE1	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
51196	PLCE1	HP:0001945	Fever	HP:0040283	ORPHA:656
51196	PLCE1	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
51196	PLCE1	HP:0003073	Hypoalbuminemia	-	OMIM:610725
51196	PLCE1	HP:0000737	Irritability	HP:0040283	ORPHA:656
51196	PLCE1	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
51196	PLCE1	HP:0011463	Childhood onset	6/14	OMIM:610725
51196	PLCE1	HP:0000969	Edema	HP:0040281	ORPHA:656
51196	PLCE1	HP:0000969	Edema	-	OMIM:610725
51196	PLCE1	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
51196	PLCE1	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
51199	NIN	HP:0001191	Abnormal carpal morphology	2/2	OMIM:614851
51199	NIN	HP:0001191	Abnormal carpal morphology	HP:0040282	ORPHA:319675
51199	NIN	HP:0010864	Intellectual disability, severe	2/2	OMIM:614851
51199	NIN	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:319675
51199	NIN	HP:0008551	Microtia	2/2	OMIM:614851
51199	NIN	HP:0008551	Microtia	HP:0040282	ORPHA:319675
51199	NIN	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
51199	NIN	HP:0001293	Cranial nerve compression	-	OMIM:131300
51199	NIN	HP:0001250	Seizure	2/2	OMIM:614851
51199	NIN	HP:0001250	Seizure	HP:0040282	ORPHA:319675
51199	NIN	HP:0001252	Hypotonia	2/7	OMIM:615777
51199	NIN	HP:0001249	Intellectual disability	5/7	OMIM:615777
51199	NIN	HP:0001263	Global developmental delay	HP:0040282	ORPHA:319675
51199	NIN	HP:0001263	Global developmental delay	-	OMIM:615777
51199	NIN	HP:0002515	Waddling gait	54/102	OMIM:131300
51199	NIN	HP:0001385	Hip dysplasia	2/2	OMIM:614851
51199	NIN	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:319675
51199	NIN	HP:0001382	Joint hypermobility	-	OMIM:615777
51199	NIN	HP:0002694	Sclerosis of skull base	-	OMIM:131300
51199	NIN	HP:0008897	Postnatal growth retardation	-	OMIM:615777
51199	NIN	HP:0008850	Severe postnatal growth retardation	HP:0040282	ORPHA:319675
51199	NIN	HP:0008846	Severe intrauterine growth retardation	HP:0040282	ORPHA:319675
51199	NIN	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
51199	NIN	HP:0001324	Muscle weakness	40/96	OMIM:131300
51199	NIN	HP:0000013	Hypoplasia of the uterus	2/2	OMIM:614851
51199	NIN	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
51199	NIN	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
51199	NIN	HP:0000007	Autosomal recessive inheritance	-	OMIM:614851
51199	NIN	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
51199	NIN	HP:0002650	Scoliosis	12/14	OMIM:131300
51199	NIN	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
51199	NIN	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
51199	NIN	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
51199	NIN	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
51199	NIN	HP:0000175	Cleft palate	2/7	OMIM:615777
51199	NIN	HP:0002750	Delayed skeletal maturation	2/2	OMIM:614851
51199	NIN	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:319675
51199	NIN	HP:0004626	Lumbar scoliosis	2/2	OMIM:614851
51199	NIN	HP:0004626	Lumbar scoliosis	HP:0040282	ORPHA:319675
51199	NIN	HP:0003388	Easy fatigability	36/76	OMIM:131300
51199	NIN	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
51199	NIN	HP:0011787	Central hypothyroidism	2/2	OMIM:614851
51199	NIN	HP:0003577	Congenital onset	2/2	OMIM:614851
51199	NIN	HP:0003510	Severe short stature	7/7	OMIM:615777
51199	NIN	HP:0003510	Severe short stature	2/2	OMIM:614851
51199	NIN	HP:0002315	Headache	-	OMIM:131300
51199	NIN	HP:0004976	Knee dislocation	6/7	OMIM:615777
51199	NIN	HP:0009826	Limb undergrowth	HP:0040282	ORPHA:319675
51199	NIN	HP:0009803	Short phalanx of finger	-	OMIM:615777
51199	NIN	HP:0009763	Limb pain	63/92	OMIM:131300
51199	NIN	HP:0003621	Juvenile onset	-	OMIM:131300
51199	NIN	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
51199	NIN	HP:0004209	Clinodactyly of the 5th finger	2/2	OMIM:614851
51199	NIN	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:319675
51199	NIN	HP:0004220	Short middle phalanx of the 5th finger	HP:0040282	ORPHA:319675
51199	NIN	HP:0004220	Short middle phalanx of the 5th finger	1/2	OMIM:614851
51199	NIN	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
51199	NIN	HP:6001056	Out-toeing	-	OMIM:131300
51199	NIN	HP:0000651	Diplopia	-	OMIM:131300
51199	NIN	HP:0001956	Truncal obesity	2/7	OMIM:615777
51199	NIN	HP:0000601	Hypotelorism	2/2	OMIM:614851
51199	NIN	HP:0000601	Hypotelorism	HP:0040282	ORPHA:319675
51199	NIN	HP:0001903	Anemia	HP:0040283	OMIM:131300
51199	NIN	HP:0010049	Short metacarpal	-	OMIM:615777
51199	NIN	HP:0011344	Severe global developmental delay	2/2	OMIM:614851
51199	NIN	HP:0000678	Dental crowding	-	OMIM:615777
51199	NIN	HP:0000670	Carious teeth	-	OMIM:131300
51199	NIN	HP:0011304	Broad thumb	2/7	OMIM:615777
51199	NIN	HP:0000668	Hypodontia	-	OMIM:615777
51199	NIN	HP:0000664	Synophrys	-	OMIM:615777
51199	NIN	HP:0004322	Short stature	HP:0040282	ORPHA:319675
51199	NIN	HP:0003067	Madelung deformity	2/2	OMIM:614851
51199	NIN	HP:0003067	Madelung deformity	HP:0040282	ORPHA:319675
51199	NIN	HP:0004396	Poor appetite	-	OMIM:131300
51199	NIN	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
51199	NIN	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
51199	NIN	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
51199	NIN	HP:0003026	Short long bone	7/7	OMIM:615777
51199	NIN	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
51199	NIN	HP:0000767	Pectus excavatum	2/7	OMIM:615777
51199	NIN	HP:0000768	Pectus carinatum	1/7	OMIM:615777
51199	NIN	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
51199	NIN	HP:0000750	Delayed speech and language development	-	OMIM:615777
51199	NIN	HP:0011461	Fetal onset	7/7	OMIM:615777
51199	NIN	HP:0000774	Narrow chest	2/7	OMIM:615777
51199	NIN	HP:0000786	Primary amenorrhea	2/2	OMIM:614851
51199	NIN	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:319675
51199	NIN	HP:0000926	Platyspondyly	1/7	OMIM:615777
51199	NIN	HP:0003180	Flat acetabular roof	-	OMIM:615777
51199	NIN	HP:0004482	Relative macrocephaly	-	OMIM:615777
51199	NIN	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
51199	NIN	HP:0012814	Bilateral breast hypoplasia	HP:0040282	ORPHA:319675
51199	NIN	HP:0000823	Delayed puberty	-	OMIM:131300
51199	NIN	HP:0000894	Short clavicles	-	OMIM:615777
51199	NIN	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
51199	NIN	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
51199	NIN	HP:0000286	Epicanthus	1/7	OMIM:615777
51199	NIN	HP:0000280	Coarse facial features	2/7	OMIM:615777
51199	NIN	HP:0002827	Hip dislocation	3/7	OMIM:615777
51199	NIN	HP:0000252	Microcephaly	2/2	OMIM:614851
51199	NIN	HP:0000252	Microcephaly	HP:0040282	ORPHA:319675
51199	NIN	HP:0000252	Microcephaly	-	OMIM:615777
51199	NIN	HP:0002857	Genu valgum	-	OMIM:131300
51199	NIN	HP:0001533	Slender build	-	OMIM:131300
51199	NIN	HP:0001511	Intrauterine growth retardation	2/2	OMIM:614851
51199	NIN	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
51199	NIN	HP:0001513	Obesity	HP:0040282	ORPHA:319675
51199	NIN	HP:0007807	Optic nerve compression	-	OMIM:131300
51199	NIN	HP:0012368	Flat face	7/7	OMIM:615777
51199	NIN	HP:0001607	Subglottic stenosis	HP:0040282	ORPHA:319675
51199	NIN	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
51199	NIN	HP:0000365	Hearing impairment	10/67	OMIM:131300
51199	NIN	HP:0000343	Long philtrum	1/7	OMIM:615777
51199	NIN	HP:0011001	Increased bone mineral density	-	OMIM:131300
51199	NIN	HP:0000311	Round face	2/7	OMIM:615777
51199	NIN	HP:0002970	Genu varum	-	OMIM:615777
51199	NIN	HP:0000303	Mandibular prognathia	-	OMIM:131300
51199	NIN	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
51199	NIN	HP:0000470	Short neck	1/7	OMIM:615777
51199	NIN	HP:0001769	Broad foot	HP:0040283	OMIM:615777
51199	NIN	HP:0001763	Pes planus	1/7	OMIM:615777
51199	NIN	HP:0000448	Prominent nose	2/2	OMIM:614851
51199	NIN	HP:0000448	Prominent nose	HP:0040282	ORPHA:319675
51199	NIN	HP:0001840	Metatarsus adductus	-	OMIM:615777
51199	NIN	HP:0000520	Proptosis	2/4	OMIM:131300
51199	NIN	HP:0000520	Proptosis	7/7	OMIM:615777
51199	NIN	HP:0000592	Blue sclerae	2/7	OMIM:615777
51199	NIN	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
51199	NIN	HP:0012514	Lower limb pain	4/4	OMIM:131300
51204	TACO1	HP:0002490	Increased CSF lactate	-	OMIM:220110
51204	TACO1	HP:0025162	Severe temper tantrums	1/5	OMIM:619052
51204	TACO1	HP:0007256	Abnormal pyramidal sign	2/5	OMIM:619052
51204	TACO1	HP:0001290	Generalized hypotonia	11/11	OMIM:220110
51204	TACO1	HP:0001270	Motor delay	-	OMIM:220110
51204	TACO1	HP:0001285	Spastic tetraparesis	1/5	OMIM:619052
51204	TACO1	HP:0001250	Seizure	-	OMIM:220110
51204	TACO1	HP:0001252	Hypotonia	2/2	OMIM:220110
51204	TACO1	HP:0001251	Ataxia	2/2	OMIM:220110
51204	TACO1	HP:0001249	Intellectual disability	5/5	OMIM:619052
51204	TACO1	HP:0001249	Intellectual disability	-	OMIM:220110
51204	TACO1	HP:0001260	Dysarthria	2/5	OMIM:619052
51204	TACO1	HP:0001263	Global developmental delay	-	OMIM:220110
51204	TACO1	HP:0003819	Death in childhood	2/2	OMIM:220110
51204	TACO1	HP:0000093	Proteinuria	-	OMIM:220110
51204	TACO1	HP:0001348	Brisk reflexes	11/11	OMIM:220110
51204	TACO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619052
51204	TACO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:220110
51204	TACO1	HP:0000124	Renal tubular dysfunction	-	OMIM:220110
51204	TACO1	HP:0001427	Mitochondrial inheritance	-	OMIM:220110
51204	TACO1	HP:0001410	Decreased liver function	-	OMIM:220110
51204	TACO1	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:220110
51204	TACO1	HP:0003355	Aminoaciduria	-	OMIM:220110
51204	TACO1	HP:0002098	Respiratory distress	-	OMIM:220110
51204	TACO1	HP:0002067	Bradykinesia	1/5	OMIM:619052
51204	TACO1	HP:0002064	Spastic gait	1/5	OMIM:619052
51204	TACO1	HP:0002078	Truncal ataxia	11/11	OMIM:220110
51204	TACO1	HP:0002151	Increased circulating lactate concentration	-	OMIM:220110
51204	TACO1	HP:0003593	Infantile onset	2/2	OMIM:220110
51204	TACO1	HP:0002240	Hepatomegaly	-	OMIM:220110
51204	TACO1	HP:0003546	Exercise intolerance	-	OMIM:220110
51204	TACO1	HP:0032005	Hemidystonia	1/5	OMIM:619052
51204	TACO1	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1/1	OMIM:619052
51204	TACO1	HP:0003688	Cytochrome C oxidase-negative muscle fibers	15/15	OMIM:220110
51204	TACO1	HP:0002376	Developmental regression	13/13	OMIM:220110
51204	TACO1	HP:0002352	Leukoencephalopathy	-	OMIM:220110
51204	TACO1	HP:0003621	Juvenile onset	4/5	OMIM:619052
51204	TACO1	HP:0007183	Focal T2 hyperintense basal ganglia lesion	3/3	OMIM:619052
51204	TACO1	HP:0000648	Optic atrophy	2/2	OMIM:220110
51204	TACO1	HP:0000648	Optic atrophy	2/3	OMIM:619052
51204	TACO1	HP:0001903	Anemia	-	OMIM:220110
51204	TACO1	HP:0001994	Renal Fanconi syndrome	-	OMIM:220110
51204	TACO1	HP:0004322	Short stature	1/5	OMIM:619052
51204	TACO1	HP:0003076	Glycosuria	-	OMIM:220110
51204	TACO1	HP:0011463	Childhood onset	1/5	OMIM:619052
51204	TACO1	HP:0003109	Hyperphosphaturia	-	OMIM:220110
51204	TACO1	HP:0003128	Lactic acidosis	13/13	OMIM:220110
51204	TACO1	HP:0012240	Increased intramyocellular lipid droplets	-	OMIM:220110
51204	TACO1	HP:0002878	Respiratory failure	2/2	OMIM:220110
51204	TACO1	HP:0000218	High palate	-	OMIM:220110
51204	TACO1	HP:0002875	Exertional dyspnea	-	OMIM:220110
51204	TACO1	HP:0001508	Failure to thrive	2/2	OMIM:220110
51204	TACO1	HP:0006565	Increased hepatocellular lipid droplets	-	OMIM:220110
51204	TACO1	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:220110
51204	TACO1	HP:0030319	Weakness of facial musculature	-	OMIM:220110
51204	TACO1	HP:0000407	Sensorineural hearing impairment	-	OMIM:220110
51204	TACO1	HP:0030223	Perseverative thought	2/5	OMIM:619052
51204	TACO1	HP:0000508	Ptosis	-	OMIM:220110
51204	TACO1	HP:0000597	Ophthalmoparesis	2/2	OMIM:220110
51204	TACO1	HP:0000580	Pigmentary retinopathy	-	OMIM:220110
51206	GP6	HP:0000007	Autosomal recessive inheritance	-	OMIM:614201
51206	GP6	HP:0000132	Menorrhagia	-	OMIM:614201
51206	GP6	HP:0011873	Abnormal platelet count	0/1	OMIM:614201
51206	GP6	HP:0011871	Impaired ristocetin-induced platelet aggregation	0/1	OMIM:614201
51206	GP6	HP:0003593	Infantile onset	1/1	OMIM:614201
51206	GP6	HP:0008320	Impaired collagen-induced platelet aggregation	1/1	OMIM:614201
51206	GP6	HP:0003010	Prolonged bleeding time	1/1	OMIM:614201
51206	GP6	HP:0000978	Bruising susceptibility	-	OMIM:614201
51206	GP6	HP:0031364	Ecchymosis	1/1	OMIM:614201
51206	GP6	HP:0000421	Epistaxis	-	OMIM:614201
51218	GLRX5	HP:0002497	Spastic ataxia	-	OMIM:616859
51218	GLRX5	HP:0002490	Increased CSF lactate	2/7	OMIM:616859
51218	GLRX5	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:401866
51218	GLRX5	HP:0007256	Abnormal pyramidal sign	-	OMIM:616859
51218	GLRX5	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:401866
51218	GLRX5	HP:0002415	Leukodystrophy	-	OMIM:616859
51218	GLRX5	HP:0032231	Hypochromia	-	OMIM:616860
51218	GLRX5	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:401866
51218	GLRX5	HP:0001276	Hypertonia	HP:0040282	ORPHA:401866
51218	GLRX5	HP:0001288	Gait disturbance	-	OMIM:616859
51218	GLRX5	HP:0001250	Seizure	-	OMIM:616859
51218	GLRX5	HP:0001251	Ataxia	HP:0040283	ORPHA:401866
51218	GLRX5	HP:0001264	Spastic diplegia	HP:0040282	ORPHA:401866
51218	GLRX5	HP:0001264	Spastic diplegia	-	OMIM:616859
51218	GLRX5	HP:0001260	Dysarthria	-	OMIM:616859
51218	GLRX5	HP:0001257	Spasticity	-	OMIM:616859
51218	GLRX5	HP:0500230	Increased CSF glycine concentration	4/8	OMIM:616859
51218	GLRX5	HP:0001394	Cirrhosis	HP:0040283	OMIM:616860
51218	GLRX5	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:401866
51218	GLRX5	HP:0001347	Hyperreflexia	-	OMIM:616859
51218	GLRX5	HP:0000007	Autosomal recessive inheritance	-	OMIM:616859
51218	GLRX5	HP:0000007	Autosomal recessive inheritance	-	OMIM:616860
51218	GLRX5	HP:0001336	Myoclonus	HP:0040283	ORPHA:401866
51218	GLRX5	HP:6000829	Reduced tissue glycine cleavage enzyme activity	2/2	OMIM:616859
51218	GLRX5	HP:0012132	Erythroid hyperplasia	-	OMIM:616860
51218	GLRX5	HP:0008945	Loss of ability to walk in early childhood	HP:0040282	ORPHA:401866
51218	GLRX5	HP:0001433	Hepatosplenomegaly	-	OMIM:616860
51218	GLRX5	HP:0005978	Type II diabetes mellitus	-	OMIM:616860
51218	GLRX5	HP:0100543	Cognitive impairment	-	ORPHA:401866
51218	GLRX5	HP:0100561	Spinal cord lesion	HP:0040282	ORPHA:401866
51218	GLRX5	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:616859
51218	GLRX5	HP:0003487	Babinski sign	HP:0040282	ORPHA:401866
51218	GLRX5	HP:0003487	Babinski sign	-	OMIM:616859
51218	GLRX5	HP:0002154	Hyperglycinemia	8/8	OMIM:616859
51218	GLRX5	HP:0002151	Increased circulating lactate concentration	-	ORPHA:401866
51218	GLRX5	HP:0002151	Increased circulating lactate concentration	4/7	OMIM:616859
51218	GLRX5	HP:0002191	Progressive spasticity	HP:0040281	ORPHA:401866
51218	GLRX5	HP:0008288	Nonketotic hyperglycinemia	HP:0040281	ORPHA:401866
51218	GLRX5	HP:0002240	Hepatomegaly	-	OMIM:616860
51218	GLRX5	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:401866
51218	GLRX5	HP:0002376	Developmental regression	HP:0040283	ORPHA:401866
51218	GLRX5	HP:0002317	Unsteady gait	HP:0040282	ORPHA:401866
51218	GLRX5	HP:0025066	Decreased mean corpuscular volume	-	OMIM:616860
51218	GLRX5	HP:0000639	Nystagmus	HP:0040282	ORPHA:401866
51218	GLRX5	HP:0000639	Nystagmus	-	OMIM:616859
51218	GLRX5	HP:0000648	Optic atrophy	HP:0040282	ORPHA:401866
51218	GLRX5	HP:0000648	Optic atrophy	-	OMIM:616859
51218	GLRX5	HP:0001903	Anemia	-	OMIM:616860
51218	GLRX5	HP:0000737	Irritability	HP:0040283	ORPHA:401866
51218	GLRX5	HP:0000736	Short attention span	HP:0040282	ORPHA:401866
51218	GLRX5	HP:0003281	Increased circulating ferritin concentration	-	OMIM:616860
51218	GLRX5	HP:0000952	Jaundice	-	OMIM:616860
51218	GLRX5	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:616860
51218	GLRX5	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	HP:0040282	ORPHA:401866
51218	GLRX5	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	-	OMIM:616859
51218	GLRX5	HP:0002908	Conjugated hyperbilirubinemia	-	OMIM:616860
51218	GLRX5	HP:0001712	Left ventricular hypertrophy	HP:0040284	ORPHA:401866
51218	GLRX5	HP:0000486	Strabismus	-	OMIM:616859
51218	GLRX5	HP:0012465	Elevated hepatic iron concentration	-	OMIM:616860
51218	GLRX5	HP:0001744	Splenomegaly	-	OMIM:616860
51218	GLRX5	HP:0011273	Anisocytosis	-	OMIM:616860
51218	GLRX5	HP:0000505	Visual impairment	HP:0040282	ORPHA:401866
51218	GLRX5	HP:0000505	Visual impairment	-	OMIM:616859
51227	PIGP	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:1934
51227	PIGP	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:1934
51227	PIGP	HP:0002421	Poor head control	-	OMIM:617599
51227	PIGP	HP:0002421	Poor head control	HP:0040282	ORPHA:1934
51227	PIGP	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:1934
51227	PIGP	HP:0001254	Lethargy	HP:0040282	ORPHA:1934
51227	PIGP	HP:0001250	Seizure	HP:0040280	ORPHA:1934
51227	PIGP	HP:0001250	Seizure	-	OMIM:617599
51227	PIGP	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1934
51227	PIGP	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:1934
51227	PIGP	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1934
51227	PIGP	HP:0001263	Global developmental delay	-	OMIM:617599
51227	PIGP	HP:0001257	Spasticity	HP:0040283	ORPHA:1934
51227	PIGP	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:1934
51227	PIGP	HP:0002540	Inability to walk	-	OMIM:617599
51227	PIGP	HP:0002521	Hypsarrhythmia	-	OMIM:617599
51227	PIGP	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:1934
51227	PIGP	HP:0002509	Limb hypertonia	-	OMIM:617599
51227	PIGP	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:1934
51227	PIGP	HP:0000070	Ureterocele	HP:0040284	ORPHA:1934
51227	PIGP	HP:0001371	Flexion contracture	-	OMIM:617599
51227	PIGP	HP:0000054	Micropenis	HP:0040284	ORPHA:1934
51227	PIGP	HP:0001382	Joint hypermobility	20/20	OMIM:617599
51227	PIGP	HP:0001347	Hyperreflexia	-	OMIM:617599
51227	PIGP	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1934
51227	PIGP	HP:0001332	Dystonia	HP:0040284	ORPHA:1934
51227	PIGP	HP:0001344	Absent speech	-	OMIM:617599
51227	PIGP	HP:0000007	Autosomal recessive inheritance	-	OMIM:617599
51227	PIGP	HP:0001337	Tremor	HP:0040283	ORPHA:1934
51227	PIGP	HP:0001336	Myoclonus	HP:0040283	ORPHA:1934
51227	PIGP	HP:0001302	Pachygyria	HP:0040283	ORPHA:1934
51227	PIGP	HP:0000175	Cleft palate	HP:0040284	ORPHA:1934
51227	PIGP	HP:0008947	Floppy infant	HP:0040282	ORPHA:1934
51227	PIGP	HP:0008936	Axial hypotonia	-	OMIM:617599
51227	PIGP	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:1934
51227	PIGP	HP:0002033	Poor suck	HP:0040282	ORPHA:1934
51227	PIGP	HP:0002015	Dysphagia	HP:0040282	ORPHA:1934
51227	PIGP	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:1934
51227	PIGP	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:617599
51227	PIGP	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1934
51227	PIGP	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:1934
51227	PIGP	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:1934
51227	PIGP	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:1934
51227	PIGP	HP:0002187	Intellectual disability, profound	-	OMIM:617599
51227	PIGP	HP:0002169	Clonus	-	OMIM:617599
51227	PIGP	HP:0003593	Infantile onset	-	OMIM:617599
51227	PIGP	HP:0100704	Cerebral visual impairment	-	OMIM:617599
51227	PIGP	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:1934
51227	PIGP	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1934
51227	PIGP	HP:0200134	Epileptic encephalopathy	-	OMIM:617599
51227	PIGP	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:1934
51227	PIGP	HP:0011968	Feeding difficulties	-	OMIM:617599
51227	PIGP	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1934
51227	PIGP	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:1934
51227	PIGP	HP:0002376	Developmental regression	HP:0040283	ORPHA:1934
51227	PIGP	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1934
51227	PIGP	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1934
51227	PIGP	HP:0010841	Multifocal epileptiform discharges	-	OMIM:617599
51227	PIGP	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:1934
51227	PIGP	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1934
51227	PIGP	HP:0010819	Atonic seizure	HP:0040283	ORPHA:1934
51227	PIGP	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:1934
51227	PIGP	HP:0003623	Neonatal onset	-	OMIM:617599
51227	PIGP	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1934
51227	PIGP	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1934
51227	PIGP	HP:0010174	Broad phalanx of the toes	HP:0040284	ORPHA:1934
51227	PIGP	HP:0000817	Reduced eye contact	-	OMIM:617599
51227	PIGP	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1934
51227	PIGP	HP:0009381	Short finger	HP:0040284	ORPHA:1934
51227	PIGP	HP:0040195	Decreased head circumference	-	OMIM:617599
51227	PIGP	HP:0000252	Microcephaly	HP:0040284	ORPHA:1934
51227	PIGP	HP:0000252	Microcephaly	-	OMIM:617599
51227	PIGP	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1934
51227	PIGP	HP:0001508	Failure to thrive	HP:0040284	ORPHA:1934
51227	PIGP	HP:0001500	Broad finger	HP:0040284	ORPHA:1934
51227	PIGP	HP:0001510	Growth delay	-	OMIM:617599
51227	PIGP	HP:0000340	Sloping forehead	HP:0040284	ORPHA:1934
51227	PIGP	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:1934
51227	PIGP	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	HP:0040283	ORPHA:1934
51227	PIGP	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:1934
51227	PIGP	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:1934
51227	PIGP	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:1934
51227	PIGP	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:1934
51227	PIGP	HP:0000486	Strabismus	HP:0040284	ORPHA:1934
51227	PIGP	HP:0012469	Infantile spasms	HP:0040283	ORPHA:1934
51227	PIGP	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1934
51227	PIGP	HP:0012448	Delayed myelination	HP:0040283	ORPHA:1934
51227	PIGP	HP:0012554	Absent thumbnail	HP:0040284	ORPHA:1934
51241	COX16	HP:0001298	Encephalopathy	2/2	OMIM:619355
51241	COX16	HP:0001399	Hepatic failure	1/2	OMIM:619355
51241	COX16	HP:0008872	Feeding difficulties in infancy	2/2	OMIM:619355
51241	COX16	HP:0000007	Autosomal recessive inheritance	-	OMIM:619355
51241	COX16	HP:0003348	Hyperalaninemia	1/2	OMIM:619355
51241	COX16	HP:0008160	3-hydroxydicarboxylic aciduria	1/2	OMIM:619355
51241	COX16	HP:0002119	Ventriculomegaly	1/2	OMIM:619355
51241	COX16	HP:0002181	Cerebral edema	1/2	OMIM:619355
51241	COX16	HP:0003542	Increased circulating pyruvate concentration	2/2	OMIM:619355
51241	COX16	HP:0008358	Hyperprolinemia	2/2	OMIM:619355
51241	COX16	HP:0008347	Decreased activity of mitochondrial complex IV	2/2	OMIM:619355
51241	COX16	HP:0002353	EEG abnormality	2/2	OMIM:619355
51241	COX16	HP:0008527	Congenital sensorineural hearing impairment	1/2	OMIM:619355
51241	COX16	HP:0033444	Elevated circulating dodecanoylcarnitine concentration	1/2	OMIM:619355
51241	COX16	HP:0033465	Elevated circulating tetradecanoylcarnitine concentration	1/2	OMIM:619355
51241	COX16	HP:0003623	Neonatal onset	1/2	OMIM:619355
51241	COX16	HP:0004900	Severe lactic acidosis	2/2	OMIM:619355
51241	COX16	HP:0001943	Hypoglycemia	2/2	OMIM:619355
51241	COX16	HP:0012707	Elevated brain lactate level by MRS	1/1	OMIM:619355
51241	COX16	HP:0012704	Widened subarachnoid space	1/2	OMIM:619355
51241	COX16	HP:0011461	Fetal onset	1/2	OMIM:619355
51241	COX16	HP:0003236	Elevated circulating creatine kinase concentration	1/2	OMIM:619355
51241	COX16	HP:0003219	Ethylmalonic aciduria	1/2	OMIM:619355
51241	COX16	HP:0003217	Hyperglutaminemia	1/2	OMIM:619355
51241	COX16	HP:0003215	Dicarboxylic aciduria	1/2	OMIM:619355
51241	COX16	HP:0003256	Abnormality of the coagulation cascade	1/2	OMIM:619355
51241	COX16	HP:0001522	Death in infancy	2/2	OMIM:619355
51241	COX16	HP:0001511	Intrauterine growth retardation	1/2	OMIM:619355
51241	COX16	HP:0002919	Ketonuria	1/2	OMIM:619355
51241	COX16	HP:0002910	Elevated circulating hepatic transaminase concentration	2/2	OMIM:619355
51241	COX16	HP:0001635	Congestive heart failure	1/2	OMIM:619355
51241	COX16	HP:0001712	Left ventricular hypertrophy	2/2	OMIM:619355
51241	COX16	HP:0012470	Setting-sun eye phenomenon	1/2	OMIM:619355
51241	COX16	HP:0012444	Brain atrophy	1/2	OMIM:619355
51241	COX16	HP:0012402	Increased urine alpha-ketoglutarate concentration	1/2	OMIM:619355
51244	CCDC174	HP:0001263	Global developmental delay	-	OMIM:616816
51244	CCDC174	HP:0000028	Cryptorchidism	-	OMIM:616816
51244	CCDC174	HP:0000007	Autosomal recessive inheritance	-	OMIM:616816
51244	CCDC174	HP:0001319	Neonatal hypotonia	-	OMIM:616816
51244	CCDC174	HP:0000194	Open mouth	-	OMIM:616816
51244	CCDC174	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:616816
51244	CCDC174	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:616816
51244	CCDC174	HP:0002058	Myopathic facies	-	OMIM:616816
51244	CCDC174	HP:0003557	Increased variability in muscle fiber diameter	HP:0040283	OMIM:616816
51244	CCDC174	HP:0006829	Severe muscular hypotonia	-	OMIM:616816
51244	CCDC174	HP:0006897	Abducens palsy	-	OMIM:616816
51244	CCDC174	HP:0006956	Lateral ventricle dilatation	-	OMIM:616816
51244	CCDC174	HP:0000750	Delayed speech and language development	-	OMIM:616816
51244	CCDC174	HP:0003198	Myopathy	-	OMIM:616816
51244	CCDC174	HP:0000276	Long face	-	OMIM:616816
51244	CCDC174	HP:0001558	Decreased fetal movement	-	OMIM:616816
51244	CCDC174	HP:0001629	Ventricular septal defect	-	OMIM:616816
51244	CCDC174	HP:0000486	Strabismus	-	OMIM:616816
51251	NT5C3A	HP:0000007	Autosomal recessive inheritance	-	OMIM:266120
51251	NT5C3A	HP:6000240	Reduced circulating pyrimidine 5-prime-nucleotidase activity	14/14	OMIM:266120
51251	NT5C3A	HP:0003596	Middle age onset	1/4	OMIM:266120
51251	NT5C3A	HP:0003623	Neonatal onset	1/4	OMIM:266120
51251	NT5C3A	HP:0003641	Hemoglobinuria	1/4	OMIM:266120
51251	NT5C3A	HP:0003621	Juvenile onset	1/4	OMIM:266120
51251	NT5C3A	HP:0001923	Reticulocytosis	3/3	OMIM:266120
51251	NT5C3A	HP:0011463	Childhood onset	1/4	OMIM:266120
51251	NT5C3A	HP:0002904	Hyperbilirubinemia	3/3	OMIM:266120
51251	NT5C3A	HP:0001878	Hemolytic anemia	4/4	OMIM:266120
51256	TBC1D7	HP:0001256	Intellectual disability, mild	4/4	OMIM:248000
51256	TBC1D7	HP:0001249	Intellectual disability	-	OMIM:248000
51256	TBC1D7	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2477
51256	TBC1D7	HP:0001263	Global developmental delay	-	OMIM:248000
51256	TBC1D7	HP:0008672	Calcium oxalate nephrolithiasis	2/2	OMIM:248000
51256	TBC1D7	HP:0000040	Long penis	HP:0040282	ORPHA:2477
51256	TBC1D7	HP:0000053	Macroorchidism	HP:0040282	ORPHA:2477
51256	TBC1D7	HP:0001355	Megalencephaly	-	OMIM:248000
51256	TBC1D7	HP:0000007	Autosomal recessive inheritance	-	OMIM:248000
51256	TBC1D7	HP:0002608	Celiac disease	2/2	OMIM:248000
51256	TBC1D7	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2477
51256	TBC1D7	HP:0002007	Frontal bossing	HP:0040281	ORPHA:2477
51256	TBC1D7	HP:0010499	Patellar subluxation	2/2	OMIM:248000
51256	TBC1D7	HP:0008239	Adrenal medullary hypoplasia	-	OMIM:248000
51256	TBC1D7	HP:0003593	Infantile onset	2/2	OMIM:248000
51256	TBC1D7	HP:0007074	Thick corpus callosum	2/2	OMIM:248000
51256	TBC1D7	HP:0000648	Optic atrophy	-	OMIM:248000
51256	TBC1D7	HP:0001956	Truncal obesity	HP:0040281	ORPHA:2477
51256	TBC1D7	HP:0000750	Delayed speech and language development	-	OMIM:248000
51256	TBC1D7	HP:0000716	Depression	-	OMIM:248000
51256	TBC1D7	HP:0000709	Psychosis	2/2	OMIM:248000
51256	TBC1D7	HP:0030799	Scaphocephaly	3/4	OMIM:248000
51256	TBC1D7	HP:0000280	Coarse facial features	-	OMIM:248000
51256	TBC1D7	HP:0000256	Macrocephaly	4/4	OMIM:248000
51256	TBC1D7	HP:0000256	Macrocephaly	HP:0040281	ORPHA:2477
51256	TBC1D7	HP:0000268	Dolichocephaly	2/2	OMIM:248000
51256	TBC1D7	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:2477
51256	TBC1D7	HP:0000269	Prominent occiput	HP:0040281	ORPHA:2477
51256	TBC1D7	HP:0000238	Hydrocephalus	0/2	OMIM:248000
51256	TBC1D7	HP:0000235	Abnormal cranial suture/fontanelle morphology	HP:0040281	ORPHA:2477
51256	TBC1D7	HP:0002857	Genu valgum	1/2	OMIM:248000
51256	TBC1D7	HP:0002857	Genu valgum	HP:0040282	ORPHA:2477
51256	TBC1D7	HP:0000337	Broad forehead	2/2	OMIM:248000
51256	TBC1D7	HP:0000307	Pointed chin	2/2	OMIM:248000
51256	TBC1D7	HP:0000307	Pointed chin	HP:0040281	ORPHA:2477
51256	TBC1D7	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:2477
51256	TBC1D7	HP:0000303	Mandibular prognathia	-	OMIM:248000
51256	TBC1D7	HP:0000483	Astigmatism	HP:0040283	OMIM:248000
51256	TBC1D7	HP:0000486	Strabismus	1/2	OMIM:248000
51256	TBC1D7	HP:0000490	Deeply set eye	HP:0040281	ORPHA:2477
51256	TBC1D7	HP:0000470	Short neck	HP:0040281	ORPHA:2477
51256	TBC1D7	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:2477
51256	TBC1D7	HP:0000545	Myopia	2/2	OMIM:248000
51259	TMEM216	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:564
51259	TMEM216	HP:0001156	Brachydactyly	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0001162	Postaxial hand polydactyly	2/13	OMIM:608091
51259	TMEM216	HP:0001162	Postaxial hand polydactyly	-	OMIM:603194
51259	TMEM216	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:564
51259	TMEM216	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2318
51259	TMEM216	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2754
51259	TMEM216	HP:0100951	Enlarged fossa interpeduncularis	-	OMIM:608091
51259	TMEM216	HP:0001159	Syndactyly	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
51259	TMEM216	HP:0002444	Hypothalamic hamartoma	HP:0040283	ORPHA:2754
51259	TMEM216	HP:0002435	Meningocele	5/9	OMIM:603194
51259	TMEM216	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
51259	TMEM216	HP:0002419	Molar tooth sign on MRI	13/13	OMIM:608091
51259	TMEM216	HP:0002419	Molar tooth sign on MRI	HP:0040281	ORPHA:2318
51259	TMEM216	HP:0002419	Molar tooth sign on MRI	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
51259	TMEM216	HP:0002404	Thickened superior cerebellar peduncle	-	OMIM:608091
51259	TMEM216	HP:0001293	Cranial nerve compression	-	OMIM:131300
51259	TMEM216	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0001273	Abnormal corpus callosum morphology	-	OMIM:608091
51259	TMEM216	HP:0001288	Gait disturbance	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0001250	Seizure	1/13	OMIM:608091
51259	TMEM216	HP:0001250	Seizure	HP:0040283	ORPHA:2318
51259	TMEM216	HP:0001250	Seizure	HP:0040283	ORPHA:2754
51259	TMEM216	HP:0001252	Hypotonia	13/13	OMIM:608091
51259	TMEM216	HP:0001252	Hypotonia	HP:0040281	ORPHA:2318
51259	TMEM216	HP:0001252	Hypotonia	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0001252	Hypotonia	2/7	OMIM:615777
51259	TMEM216	HP:0001251	Ataxia	-	OMIM:608091
51259	TMEM216	HP:0001251	Ataxia	HP:0040281	ORPHA:2318
51259	TMEM216	HP:0001251	Ataxia	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0001249	Intellectual disability	13/13	OMIM:608091
51259	TMEM216	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2318
51259	TMEM216	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0001249	Intellectual disability	5/7	OMIM:615777
51259	TMEM216	HP:0001263	Global developmental delay	13/13	OMIM:608091
51259	TMEM216	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2318
51259	TMEM216	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0001263	Global developmental delay	-	OMIM:615777
51259	TMEM216	HP:0002566	Intestinal malrotation	1/8	OMIM:603194
51259	TMEM216	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2318
51259	TMEM216	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2754
51259	TMEM216	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:564
51259	TMEM216	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2754
51259	TMEM216	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:2318
51259	TMEM216	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:2754
51259	TMEM216	HP:0002515	Waddling gait	54/102	OMIM:131300
51259	TMEM216	HP:0002508	Brainstem dysplasia	-	OMIM:608091
51259	TMEM216	HP:0000083	Renal insufficiency	2/13	OMIM:608091
51259	TMEM216	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:2318
51259	TMEM216	HP:0000090	Nephronophthisis	-	OMIM:608091
51259	TMEM216	HP:0000068	Urethral atresia	HP:0040283	ORPHA:564
51259	TMEM216	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:564
51259	TMEM216	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:564
51259	TMEM216	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:564
51259	TMEM216	HP:0001382	Joint hypermobility	-	OMIM:615777
51259	TMEM216	HP:0000050	Hypoplastic male external genitalia	-	OMIM:608091
51259	TMEM216	HP:0002694	Sclerosis of skull base	-	OMIM:131300
51259	TMEM216	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:564
51259	TMEM216	HP:0008897	Postnatal growth retardation	-	OMIM:615777
51259	TMEM216	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0006145	Central Y-shaped metacarpal	HP:0040283	ORPHA:2754
51259	TMEM216	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
51259	TMEM216	HP:0001324	Muscle weakness	40/96	OMIM:131300
51259	TMEM216	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
51259	TMEM216	HP:0000007	Autosomal recessive inheritance	-	OMIM:608091
51259	TMEM216	HP:0000007	Autosomal recessive inheritance	-	OMIM:603194
51259	TMEM216	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
51259	TMEM216	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
51259	TMEM216	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:564
51259	TMEM216	HP:0001337	Tremor	HP:0040283	ORPHA:2754
51259	TMEM216	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
51259	TMEM216	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
51259	TMEM216	HP:0001305	Dandy-Walker malformation	1/9	OMIM:603194
51259	TMEM216	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:564
51259	TMEM216	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:2318
51259	TMEM216	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:2754
51259	TMEM216	HP:0002650	Scoliosis	HP:0040283	ORPHA:2318
51259	TMEM216	HP:0002650	Scoliosis	12/14	OMIM:131300
51259	TMEM216	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
51259	TMEM216	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:564
51259	TMEM216	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
51259	TMEM216	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
51259	TMEM216	HP:0000180	Lobulated tongue	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0000199	Tongue nodules	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
51259	TMEM216	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0000175	Cleft palate	HP:0040282	ORPHA:564
51259	TMEM216	HP:0000175	Cleft palate	4/8	OMIM:603194
51259	TMEM216	HP:0000175	Cleft palate	2/7	OMIM:615777
51259	TMEM216	HP:0000175	Cleft palate	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
51259	TMEM216	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
51259	TMEM216	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
51259	TMEM216	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
51259	TMEM216	HP:0002790	Neonatal breathing dysregulation	-	OMIM:608091
51259	TMEM216	HP:0002789	Tachypnea	HP:0040281	ORPHA:2318
51259	TMEM216	HP:0000112	Nephropathy	HP:0040281	ORPHA:2318
51259	TMEM216	HP:0000107	Renal cyst	-	OMIM:608091
51259	TMEM216	HP:0000107	Renal cyst	10/10	OMIM:603194
51259	TMEM216	HP:0000104	Renal agenesis	HP:0040283	ORPHA:2754
51259	TMEM216	HP:0001408	Bile duct proliferation	6/7	OMIM:603194
51259	TMEM216	HP:0002007	Frontal bossing	6/13	OMIM:608091
51259	TMEM216	HP:0002007	Frontal bossing	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0011802	Hamartoma of tongue	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0002084	Encephalocele	-	OMIM:608091
51259	TMEM216	HP:0002084	Encephalocele	5/9	OMIM:603194
51259	TMEM216	HP:0002084	Encephalocele	HP:0040283	ORPHA:2318
51259	TMEM216	HP:0002084	Encephalocele	HP:0040281	ORPHA:564
51259	TMEM216	HP:0003388	Easy fatigability	36/76	OMIM:131300
51259	TMEM216	HP:0010442	Polydactyly	6/8	OMIM:603194
51259	TMEM216	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
51259	TMEM216	HP:0010459	True hermaphroditism	HP:0040283	ORPHA:564
51259	TMEM216	HP:0002104	Apnea	HP:0040281	ORPHA:2318
51259	TMEM216	HP:0002104	Apnea	HP:0040283	ORPHA:2754
51259	TMEM216	HP:0011933	Elongated superior cerebellar peduncle	-	OMIM:608091
51259	TMEM216	HP:0002195	Dysgenesis of the cerebellar vermis	-	OMIM:608091
51259	TMEM216	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:2318
51259	TMEM216	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:2754
51259	TMEM216	HP:0003577	Congenital onset	5/8	OMIM:603194
51259	TMEM216	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:2318
51259	TMEM216	HP:0100732	Pancreatic fibrosis	HP:0040283	ORPHA:564
51259	TMEM216	HP:0007036	Hypoplasia of olfactory tract	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0003510	Severe short stature	7/7	OMIM:615777
51259	TMEM216	HP:0002365	Hypoplasia of the brainstem	-	OMIM:608091
51259	TMEM216	HP:0002335	Agenesis of cerebellar vermis	-	OMIM:608091
51259	TMEM216	HP:0002323	Anencephaly	HP:0040283	ORPHA:564
51259	TMEM216	HP:0002323	Anencephaly	2/9	OMIM:603194
51259	TMEM216	HP:0002315	Headache	-	OMIM:131300
51259	TMEM216	HP:0004976	Knee dislocation	6/7	OMIM:615777
51259	TMEM216	HP:0009803	Short phalanx of finger	-	OMIM:615777
51259	TMEM216	HP:0009763	Limb pain	63/92	OMIM:131300
51259	TMEM216	HP:0003621	Juvenile onset	8/19	OMIM:180100
51259	TMEM216	HP:0003621	Juvenile onset	-	OMIM:131300
51259	TMEM216	HP:0006870	Lobar holoprosencephaly	HP:0040282	ORPHA:564
51259	TMEM216	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
51259	TMEM216	HP:0009084	Midline notch of upper alveolar ridge	HP:0040283	ORPHA:2754
51259	TMEM216	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
51259	TMEM216	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
51259	TMEM216	HP:0000639	Nystagmus	-	OMIM:608091
51259	TMEM216	HP:0000639	Nystagmus	HP:0040282	ORPHA:2318
51259	TMEM216	HP:0000639	Nystagmus	HP:0040282	ORPHA:2754
51259	TMEM216	HP:6001056	Out-toeing	-	OMIM:131300
51259	TMEM216	HP:0000651	Diplopia	-	OMIM:131300
51259	TMEM216	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
51259	TMEM216	HP:0000648	Optic atrophy	HP:0040282	ORPHA:564
51259	TMEM216	HP:0000647	Sclerocornea	HP:0040282	ORPHA:564
51259	TMEM216	HP:0000617	Abnormality of ocular smooth pursuit	-	OMIM:608091
51259	TMEM216	HP:0000618	Blindness	HP:0040281	ORPHA:791
51259	TMEM216	HP:0000618	Blindness	HP:0040282	ORPHA:2318
51259	TMEM216	HP:0000613	Photophobia	HP:0040281	ORPHA:791
51259	TMEM216	HP:0000612	Iris coloboma	HP:0040282	ORPHA:2318
51259	TMEM216	HP:0001956	Truncal obesity	2/7	OMIM:615777
51259	TMEM216	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
51259	TMEM216	HP:0001903	Anemia	HP:0040283	OMIM:131300
51259	TMEM216	HP:0010049	Short metacarpal	-	OMIM:615777
51259	TMEM216	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
51259	TMEM216	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
51259	TMEM216	HP:0000678	Dental crowding	-	OMIM:615777
51259	TMEM216	HP:0011330	Metopic synostosis	1/13	OMIM:608091
51259	TMEM216	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
51259	TMEM216	HP:0000662	Nyctalopia	26/28	OMIM:180100
51259	TMEM216	HP:0000657	Oculomotor apraxia	-	OMIM:608091
51259	TMEM216	HP:0000670	Carious teeth	-	OMIM:131300
51259	TMEM216	HP:0011304	Broad thumb	2/7	OMIM:615777
51259	TMEM216	HP:0000668	Hypodontia	-	OMIM:615777
51259	TMEM216	HP:0000664	Synophrys	-	OMIM:615777
51259	TMEM216	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
51259	TMEM216	HP:0004322	Short stature	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2318
51259	TMEM216	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:564
51259	TMEM216	HP:0004396	Poor appetite	-	OMIM:131300
51259	TMEM216	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
51259	TMEM216	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
51259	TMEM216	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
51259	TMEM216	HP:0003026	Short long bone	7/7	OMIM:615777
51259	TMEM216	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
51259	TMEM216	HP:0000767	Pectus excavatum	2/7	OMIM:615777
51259	TMEM216	HP:0000768	Pectus carinatum	1/7	OMIM:615777
51259	TMEM216	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
51259	TMEM216	HP:0000750	Delayed speech and language development	-	OMIM:615777
51259	TMEM216	HP:0000729	Autistic behavior	HP:0040282	ORPHA:2318
51259	TMEM216	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2318
51259	TMEM216	HP:0011463	Childhood onset	3/19	OMIM:180100
51259	TMEM216	HP:0011462	Young adult onset	8/19	OMIM:180100
51259	TMEM216	HP:0011461	Fetal onset	3/8	OMIM:603194
51259	TMEM216	HP:0011461	Fetal onset	7/7	OMIM:615777
51259	TMEM216	HP:0000774	Narrow chest	2/7	OMIM:615777
51259	TMEM216	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2318
51259	TMEM216	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0030786	Photopsia	HP:0040283	ORPHA:791
51259	TMEM216	HP:0000926	Platyspondyly	1/7	OMIM:615777
51259	TMEM216	HP:0003180	Flat acetabular roof	-	OMIM:615777
51259	TMEM216	HP:0004482	Relative macrocephaly	-	OMIM:615777
51259	TMEM216	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
51259	TMEM216	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
51259	TMEM216	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:2318
51259	TMEM216	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
51259	TMEM216	HP:0000823	Delayed puberty	-	OMIM:131300
51259	TMEM216	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:564
51259	TMEM216	HP:0040019	Finger clinodactyly	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0000894	Short clavicles	-	OMIM:615777
51259	TMEM216	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
51259	TMEM216	HP:0100260	Mesoaxial polydactyly	HP:0040283	ORPHA:2754
51259	TMEM216	HP:0100258	Preaxial polydactyly	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
51259	TMEM216	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040282	ORPHA:564
51259	TMEM216	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
51259	TMEM216	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
51259	TMEM216	HP:0000286	Epicanthus	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0000286	Epicanthus	1/7	OMIM:615777
51259	TMEM216	HP:0000280	Coarse facial features	2/7	OMIM:615777
51259	TMEM216	HP:0000293	Full cheeks	HP:0040282	ORPHA:564
51259	TMEM216	HP:0000256	Macrocephaly	-	OMIM:608091
51259	TMEM216	HP:0000276	Long face	HP:0040282	ORPHA:2318
51259	TMEM216	HP:0000276	Long face	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0000268	Dolichocephaly	6/13	OMIM:608091
51259	TMEM216	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
51259	TMEM216	HP:0007772	Impaired smooth pursuit	-	OMIM:608091
51259	TMEM216	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
51259	TMEM216	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
51259	TMEM216	HP:0002827	Hip dislocation	3/7	OMIM:615777
51259	TMEM216	HP:0000238	Hydrocephalus	1/13	OMIM:608091
51259	TMEM216	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:564
51259	TMEM216	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2318
51259	TMEM216	HP:0001583	Rotary nystagmus	11/13	OMIM:608091
51259	TMEM216	HP:0000252	Microcephaly	HP:0040281	ORPHA:564
51259	TMEM216	HP:0000252	Microcephaly	-	OMIM:615777
51259	TMEM216	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:564
51259	TMEM216	HP:0000218	High palate	-	OMIM:608091
51259	TMEM216	HP:0000218	High palate	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0002876	Episodic tachypnea	-	OMIM:608091
51259	TMEM216	HP:0002876	Episodic tachypnea	HP:0040283	ORPHA:2754
51259	TMEM216	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:564
51259	TMEM216	HP:0002857	Genu valgum	-	OMIM:131300
51259	TMEM216	HP:0002871	Central apnea	-	OMIM:608091
51259	TMEM216	HP:0001539	Omphalocele	1/8	OMIM:603194
51259	TMEM216	HP:0001533	Slender build	-	OMIM:131300
51259	TMEM216	HP:0001508	Failure to thrive	-	OMIM:608091
51259	TMEM216	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0001511	Intrauterine growth retardation	2/8	OMIM:603194
51259	TMEM216	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
51259	TMEM216	HP:0001510	Growth delay	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
51259	TMEM216	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
51259	TMEM216	HP:0007807	Optic nerve compression	-	OMIM:131300
51259	TMEM216	HP:0012368	Flat face	7/7	OMIM:615777
51259	TMEM216	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
51259	TMEM216	HP:0006487	Bowing of the long bones	4/8	OMIM:603194
51259	TMEM216	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:564
51259	TMEM216	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:564
51259	TMEM216	HP:0000365	Hearing impairment	10/67	OMIM:131300
51259	TMEM216	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:564
51259	TMEM216	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2318
51259	TMEM216	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0000369	Low-set ears	-	OMIM:608091
51259	TMEM216	HP:0000340	Sloping forehead	HP:0040282	ORPHA:564
51259	TMEM216	HP:0000343	Long philtrum	1/7	OMIM:615777
51259	TMEM216	HP:0011001	Increased bone mineral density	-	OMIM:131300
51259	TMEM216	HP:0000347	Micrognathia	HP:0040282	ORPHA:564
51259	TMEM216	HP:0000347	Micrognathia	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0000316	Hypertelorism	-	OMIM:608091
51259	TMEM216	HP:0000316	Hypertelorism	HP:0040282	ORPHA:564
51259	TMEM216	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0000311	Round face	2/7	OMIM:615777
51259	TMEM216	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2754
51259	TMEM216	HP:0002970	Genu varum	-	OMIM:615777
51259	TMEM216	HP:0000303	Mandibular prognathia	-	OMIM:131300
51259	TMEM216	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
51259	TMEM216	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
51259	TMEM216	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:564
51259	TMEM216	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
51259	TMEM216	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0005280	Depressed nasal bridge	-	OMIM:608091
51259	TMEM216	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
51259	TMEM216	HP:0000486	Strabismus	HP:0040283	ORPHA:2318
51259	TMEM216	HP:0000482	Microcornea	HP:0040282	ORPHA:564
51259	TMEM216	HP:0000476	Cystic hygroma	1/8	OMIM:603194
51259	TMEM216	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2318
51259	TMEM216	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:564
51259	TMEM216	HP:0000470	Short neck	1/7	OMIM:615777
51259	TMEM216	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
51259	TMEM216	HP:0001769	Broad foot	HP:0040283	OMIM:615777
51259	TMEM216	HP:0001763	Pes planus	1/7	OMIM:615777
51259	TMEM216	HP:0001746	Asplenia	HP:0040283	ORPHA:564
51259	TMEM216	HP:0001747	Accessory spleen	HP:0040283	ORPHA:564
51259	TMEM216	HP:0001760	Abnormal foot morphology	-	OMIM:608091
51259	TMEM216	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:2318
51259	TMEM216	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:2754
51259	TMEM216	HP:0006706	Cystic liver disease	HP:0040283	ORPHA:564
51259	TMEM216	HP:0000518	Cataract	HP:0040282	ORPHA:564
51259	TMEM216	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
51259	TMEM216	HP:0001840	Metatarsus adductus	-	OMIM:615777
51259	TMEM216	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
51259	TMEM216	HP:0000528	Anophthalmia	HP:0040283	ORPHA:564
51259	TMEM216	HP:0000520	Proptosis	2/4	OMIM:131300
51259	TMEM216	HP:0000520	Proptosis	7/7	OMIM:615777
51259	TMEM216	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:2318
51259	TMEM216	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:2754
51259	TMEM216	HP:0000508	Ptosis	HP:0040282	ORPHA:2318
51259	TMEM216	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
51259	TMEM216	HP:0000505	Visual impairment	-	OMIM:608091
51259	TMEM216	HP:0000505	Visual impairment	HP:0040282	ORPHA:2318
51259	TMEM216	HP:0001830	Postaxial foot polydactyly	3/13	OMIM:608091
51259	TMEM216	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:564
51259	TMEM216	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
51259	TMEM216	HP:0000575	Scotoma	5/18	OMIM:180100
51259	TMEM216	HP:0000592	Blue sclerae	2/7	OMIM:615777
51259	TMEM216	HP:0000588	Optic disc coloboma	-	OMIM:608091
51259	TMEM216	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
51259	TMEM216	HP:0000556	Retinal dystrophy	-	OMIM:608091
51259	TMEM216	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:2318
51259	TMEM216	HP:0000570	Abnormal saccadic eye movements	-	OMIM:608091
51259	TMEM216	HP:0000568	Microphthalmia	-	OMIM:608091
51259	TMEM216	HP:0000568	Microphthalmia	1/9	OMIM:603194
51259	TMEM216	HP:0000568	Microphthalmia	HP:0040282	ORPHA:564
51259	TMEM216	HP:0000565	Esotropia	5/13	OMIM:608091
51259	TMEM216	HP:0000565	Esotropia	HP:0040282	ORPHA:2754
51259	TMEM216	HP:0000567	Chorioretinal coloboma	-	OMIM:608091
51259	TMEM216	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:2318
51259	TMEM216	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
51259	TMEM216	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:564
51259	TMEM216	HP:0001883	Talipes	HP:0040282	ORPHA:564
51259	TMEM216	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
51259	TMEM216	HP:0012514	Lower limb pain	4/4	OMIM:131300
51259	TMEM216	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
51259	TMEM216	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
51259	TMEM216	HP:0000543	Optic disc pallor	1/1	OMIM:180100
51259	TMEM216	HP:0000545	Myopia	-	OMIM:180100
51271	UBAP1	HP:0007210	Lower limb amyotrophy	HP:0040282	ORPHA:100993
51271	UBAP1	HP:0001268	Mental deterioration	7/30	OMIM:618418
51271	UBAP1	HP:0001288	Gait disturbance	-	OMIM:618418
51271	UBAP1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:100993
51271	UBAP1	HP:0001250	Seizure	-	ORPHA:100993
51271	UBAP1	HP:0001260	Dysarthria	1/30	OMIM:618418
51271	UBAP1	HP:0001258	Spastic paraplegia	-	OMIM:618418
51271	UBAP1	HP:0007350	Upper limb hyperreflexia	HP:0040283	ORPHA:100993
51271	UBAP1	HP:0007350	Upper limb hyperreflexia	26/30	OMIM:618418
51271	UBAP1	HP:0007340	Lower limb muscle weakness	HP:0040281	ORPHA:100993
51271	UBAP1	HP:0000020	Urinary incontinence	HP:0040282	ORPHA:100993
51271	UBAP1	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:100993
51271	UBAP1	HP:0001332	Dystonia	0/30	OMIM:618418
51271	UBAP1	HP:0000012	Urinary urgency	HP:0040282	ORPHA:100993
51271	UBAP1	HP:0000012	Urinary urgency	11/30	OMIM:618418
51271	UBAP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618418
51271	UBAP1	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:100993
51271	UBAP1	HP:0040307	Male sexual dysfunction	HP:0040282	ORPHA:100993
51271	UBAP1	HP:0100561	Spinal cord lesion	HP:0040282	ORPHA:100993
51271	UBAP1	HP:0002067	Bradykinesia	0/30	OMIM:618418
51271	UBAP1	HP:0003394	Muscle spasm	HP:0040282	ORPHA:100993
51271	UBAP1	HP:0002064	Spastic gait	HP:0040282	ORPHA:100993
51271	UBAP1	HP:0002061	Lower limb spasticity	29/30	OMIM:618418
51271	UBAP1	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:100993
51271	UBAP1	HP:0002070	Limb ataxia	7/30	OMIM:618418
51271	UBAP1	HP:0002070	Limb ataxia	HP:0040282	ORPHA:100993
51271	UBAP1	HP:0003487	Babinski sign	29/30	OMIM:618418
51271	UBAP1	HP:0003487	Babinski sign	HP:0040282	ORPHA:100993
51271	UBAP1	HP:0003457	EMG abnormality	-	ORPHA:100993
51271	UBAP1	HP:0002169	Clonus	HP:0040282	ORPHA:100993
51271	UBAP1	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:100993
51271	UBAP1	HP:0007020	Progressive spastic paraplegia	HP:0040281	ORPHA:100993
51271	UBAP1	HP:0002395	Lower limb hyperreflexia	30/30	OMIM:618418
51271	UBAP1	HP:0002314	Degeneration of the lateral corticospinal tracts	HP:0040281	ORPHA:100993
51271	UBAP1	HP:0010831	Impaired proprioception	HP:0040282	ORPHA:100993
51271	UBAP1	HP:0003621	Juvenile onset	18/28	OMIM:618418
51271	UBAP1	HP:0000640	Gaze-evoked nystagmus	7/30	OMIM:618418
51271	UBAP1	HP:0000641	Dysmetric saccades	7/30	OMIM:618418
51271	UBAP1	HP:0000605	Supranuclear gaze palsy	0/30	OMIM:618418
51271	UBAP1	HP:0006986	Upper limb spasticity	1/30	OMIM:618418
51271	UBAP1	HP:0011463	Childhood onset	10/28	OMIM:618418
51271	UBAP1	HP:0012898	Abnormal lower-limb motor evoked potentials	-	ORPHA:100993
51271	UBAP1	HP:0030014	Female sexual dysfunction	HP:0040282	ORPHA:100993
51271	UBAP1	HP:0002921	Abnormal cerebrospinal fluid morphology	-	ORPHA:100993
51271	UBAP1	HP:0001761	Pes cavus	1/30	OMIM:618418
51271	UBAP1	HP:0001761	Pes cavus	HP:0040282	ORPHA:100993
51284	TLR7	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
51284	TLR7	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
51284	TLR7	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
51284	TLR7	HP:0001250	Seizure	HP:0040283	ORPHA:536
51284	TLR7	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
51284	TLR7	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
51284	TLR7	HP:0001369	Arthritis	HP:0040282	ORPHA:536
51284	TLR7	HP:0033834	Malaise	HP:0040281	ORPHA:536
51284	TLR7	HP:0012085	Pyuria	HP:0040282	ORPHA:536
51284	TLR7	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
51284	TLR7	HP:0025300	Malar rash	HP:0040282	ORPHA:536
51284	TLR7	HP:0025300	Malar rash	1/3	OMIM:301080
51284	TLR7	HP:0000155	Oral ulcer	1/3	OMIM:301080
51284	TLR7	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
51284	TLR7	HP:0001423	X-linked dominant inheritance	-	OMIM:301080
51284	TLR7	HP:0001419	X-linked recessive inheritance	-	OMIM:301051
51284	TLR7	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
51284	TLR7	HP:0002725	Systemic lupus erythematosus	2/3	OMIM:301080
51284	TLR7	HP:0002072	Chorea	HP:0040284	ORPHA:536
51284	TLR7	HP:0002072	Chorea	1/3	OMIM:301080
51284	TLR7	HP:0002039	Anorexia	HP:0040281	ORPHA:536
51284	TLR7	HP:0033141	Severe SARS-CoV-2 infection	4/4	OMIM:301051
51284	TLR7	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
51284	TLR7	HP:0003493	Antinuclear antibody positivity	3/3	OMIM:301080
51284	TLR7	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
51284	TLR7	HP:0100735	Hypertensive crisis	1/3	OMIM:301080
51284	TLR7	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
51284	TLR7	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
51284	TLR7	HP:0033342	Anti-aquaporin 4 antibody positivity	1/3	OMIM:301080
51284	TLR7	HP:0002315	Headache	1/3	OMIM:301080
51284	TLR7	HP:0100653	Optic neuritis	1/3	OMIM:301080
51284	TLR7	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
51284	TLR7	HP:0003621	Juvenile onset	2/3	OMIM:301080
51284	TLR7	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
51284	TLR7	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
51284	TLR7	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
51284	TLR7	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
51284	TLR7	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
51284	TLR7	HP:0001973	Autoimmune thrombocytopenia	1/3	OMIM:301080
51284	TLR7	HP:0001945	Fever	1/3	OMIM:301080
51284	TLR7	HP:0001945	Fever	HP:0040281	ORPHA:536
51284	TLR7	HP:0001954	Recurrent fever	1/3	OMIM:301080
51284	TLR7	HP:0000739	Anxiety	1/3	OMIM:301080
51284	TLR7	HP:0000716	Depression	HP:0040283	ORPHA:536
51284	TLR7	HP:0000790	Hematuria	HP:0040282	ORPHA:536
51284	TLR7	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
51284	TLR7	HP:0000822	Hypertension	HP:0040282	ORPHA:536
51284	TLR7	HP:0030880	Raynaud phenomenon	1/3	OMIM:301080
51284	TLR7	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
51284	TLR7	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
51284	TLR7	HP:0045042	Decreased circulating complement C4 concentration	1/3	OMIM:301080
51284	TLR7	HP:0045073	Serositis	HP:0040283	ORPHA:536
51284	TLR7	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
51284	TLR7	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
51284	TLR7	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
51284	TLR7	HP:0001596	Alopecia	1/3	OMIM:301080
51284	TLR7	HP:0001596	Alopecia	HP:0040282	ORPHA:536
51284	TLR7	HP:0002829	Arthralgia	2/3	OMIM:301080
51284	TLR7	HP:0012378	Fatigue	HP:0040281	ORPHA:536
51284	TLR7	HP:0001653	Mitral regurgitation	1/3	OMIM:301080
51284	TLR7	HP:0012486	Myelitis	1/3	OMIM:301080
51284	TLR7	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
51284	TLR7	HP:0025708	Early young adult onset	1/3	OMIM:301080
51284	TLR7	HP:0005421	Decreased circulating complement C3 concentration	2/3	OMIM:301080
51284	TLR7	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
51284	TLR7	HP:0001824	Weight loss	HP:0040281	ORPHA:536
51284	TLR7	HP:0031691	Severe viral infection	4/4	OMIM:301051
51284	TLR7	HP:0001888	Decreased total lymphocyte count	1/3	OMIM:301080
51284	TLR7	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
51284	TLR7	HP:0001882	Decreased total leukocyte count	1/3	OMIM:301080
51284	TLR7	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
51284	TLR7	HP:0001873	Thrombocytopenia	1/3	OMIM:301080
51284	TLR7	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
51293	CD320	HP:0034985	Reduced cellular cobalamin uptake	4/4	OMIM:613646
51293	CD320	HP:0000007	Autosomal recessive inheritance	-	OMIM:613646
51293	CD320	HP:0012120	Methylmalonic aciduria	1/1	OMIM:613646
51293	CD320	HP:0002160	Hyperhomocystinemia	1/2	OMIM:613646
51293	CD320	HP:0003593	Infantile onset	1/1	OMIM:613646
51293	CD320	HP:0003577	Congenital onset	1/1	OMIM:613646
51293	CD320	HP:0003623	Neonatal onset	1/1	OMIM:613646
51293	CD320	HP:0002912	Methylmalonic acidemia	1/1	OMIM:613646
51294	PCDH12	HP:0001250	Seizure	3/3	OMIM:251280
51294	PCDH12	HP:0001263	Global developmental delay	3/3	OMIM:251280
51294	PCDH12	HP:0002521	Hypsarrhythmia	1/3	OMIM:251280
51294	PCDH12	HP:0002510	Spastic tetraplegia	-	OMIM:251280
51294	PCDH12	HP:0001347	Hyperreflexia	-	OMIM:251280
51294	PCDH12	HP:0001332	Dystonia	3/3	OMIM:251280
51294	PCDH12	HP:0000007	Autosomal recessive inheritance	-	OMIM:251280
51294	PCDH12	HP:0008936	Axial hypotonia	3/3	OMIM:251280
51294	PCDH12	HP:0002123	Generalized myoclonic seizure	-	OMIM:251280
51294	PCDH12	HP:0002187	Intellectual disability, profound	-	OMIM:251280
51294	PCDH12	HP:0002266	Focal clonic seizure	3/3	OMIM:251280
51294	PCDH12	HP:0003593	Infantile onset	-	OMIM:251280
51294	PCDH12	HP:0030674	Antenatal onset	6/6	OMIM:251280
51294	PCDH12	HP:0011451	Primary microcephaly	6/6	OMIM:251280
51294	PCDH12	HP:0000253	Progressive microcephaly	3/3	OMIM:251280
51294	PCDH12	HP:0001511	Intrauterine growth retardation	6/6	OMIM:251280
51294	PCDH12	HP:0032792	Tonic seizure	1/3	OMIM:251280
51294	PCDH12	HP:0001622	Premature birth	2/6	OMIM:251280
51294	PCDH12	HP:0012469	Infantile spasms	1/3	OMIM:251280
51294	PCDH12	HP:0000505	Visual impairment	3/3	OMIM:251280
51300	TIMMDC1	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
51300	TIMMDC1	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0001250	Seizure	1/3	OMIM:618251
51300	TIMMDC1	HP:0001252	Hypotonia	3/3	OMIM:618251
51300	TIMMDC1	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0001263	Global developmental delay	3/3	OMIM:618251
51300	TIMMDC1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0003819	Death in childhood	2/3	OMIM:618251
51300	TIMMDC1	HP:0008872	Feeding difficulties in infancy	2/3	OMIM:618251
51300	TIMMDC1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618251
51300	TIMMDC1	HP:0001336	Myoclonus	1/3	OMIM:618251
51300	TIMMDC1	HP:0001310	Dysmetria	1/3	OMIM:618251
51300	TIMMDC1	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0002119	Ventriculomegaly	1/3	OMIM:618251
51300	TIMMDC1	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
51300	TIMMDC1	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:618251
51300	TIMMDC1	HP:0003593	Infantile onset	3/3	OMIM:618251
51300	TIMMDC1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0002205	Recurrent respiratory infections	1/3	OMIM:618251
51300	TIMMDC1	HP:0002280	Enlarged cisterna magna	1/3	OMIM:618251
51300	TIMMDC1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
51300	TIMMDC1	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0002344	Progressive neurologic deterioration	-	OMIM:618251
51300	TIMMDC1	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0009830	Peripheral neuropathy	1/3	OMIM:618251
51300	TIMMDC1	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0000639	Nystagmus	1/3	OMIM:618251
51300	TIMMDC1	HP:0000618	Blindness	HP:0040283	ORPHA:2609
51300	TIMMDC1	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
51300	TIMMDC1	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0003202	Skeletal muscle atrophy	2/3	OMIM:618251
51300	TIMMDC1	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
51300	TIMMDC1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0001508	Failure to thrive	2/3	OMIM:618251
51300	TIMMDC1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0000407	Sensorineural hearing impairment	1/3	OMIM:618251
51300	TIMMDC1	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
51300	TIMMDC1	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
51305	KCNK9	HP:0007269	Spinal muscular atrophy	HP:0040283	ORPHA:166108
51305	KCNK9	HP:0003758	Reduced subcutaneous adipose tissue	8/19	OMIM:612292
51305	KCNK9	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0001284	Areflexia	HP:0040283	ORPHA:166108
51305	KCNK9	HP:0001252	Hypotonia	-	OMIM:612292
51305	KCNK9	HP:0001249	Intellectual disability	-	OMIM:612292
51305	KCNK9	HP:0001263	Global developmental delay	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0001263	Global developmental delay	4/4	OMIM:612292
51305	KCNK9	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0002553	Highly arched eyebrow	-	OMIM:612292
51305	KCNK9	HP:0008872	Feeding difficulties in infancy	4/4	OMIM:612292
51305	KCNK9	HP:0000006	Autosomal dominant inheritance	-	OMIM:612292
51305	KCNK9	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:166108
51305	KCNK9	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0000194	Open mouth	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0000193	Bifid uvula	1/19	OMIM:612292
51305	KCNK9	HP:0002705	High, narrow palate	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0002015	Dysphagia	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0002015	Dysphagia	-	OMIM:612292
51305	KCNK9	HP:0011819	Submucous cleft soft palate	8/19	OMIM:612292
51305	KCNK9	HP:0040288	Nasogastric tube feeding	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0008366	Foot joint contracture	HP:0040283	ORPHA:166108
51305	KCNK9	HP:0007002	Motor axonal neuropathy	HP:0040283	ORPHA:166108
51305	KCNK9	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0010804	Tented upper lip vermilion	11/19	OMIM:612292
51305	KCNK9	HP:0000752	Hyperactivity	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0005879	Congenital finger flexion contractures	HP:0040283	ORPHA:166108
51305	KCNK9	HP:0000954	Single transverse palmar crease	3/19	OMIM:612292
51305	KCNK9	HP:0000960	Sacral dimple	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0000960	Sacral dimple	1/4	OMIM:612292
51305	KCNK9	HP:0000289	Broad philtrum	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0000276	Long face	8/19	OMIM:612292
51305	KCNK9	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0005060	Limited elbow flexion/extension	HP:0040283	ORPHA:166108
51305	KCNK9	HP:0000218	High palate	8/19	OMIM:612292
51305	KCNK9	HP:0011081	Incisor macrodontia	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0001618	Dysphonia	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0030197	Fatigable weakness of skeletal muscles	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0000341	Narrow forehead	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0000341	Narrow forehead	4/4	OMIM:612292
51305	KCNK9	HP:0000338	Hypomimic face	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0000347	Micrognathia	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0000322	Short philtrum	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0000322	Short philtrum	13/19	OMIM:612292
51305	KCNK9	HP:0000308	Microretrognathia	13/19	OMIM:612292
51305	KCNK9	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0000411	Protruding ear	HP:0040282	ORPHA:166108
51305	KCNK9	HP:0000527	Long eyelashes	10/19	OMIM:612292
51308	REEP2	HP:0001288	Gait disturbance	2/4	OMIM:620606
51308	REEP2	HP:0001251	Ataxia	0/14	OMIM:615625
51308	REEP2	HP:0001260	Dysarthria	0/4	OMIM:620606
51308	REEP2	HP:0001260	Dysarthria	0/14	OMIM:615625
51308	REEP2	HP:0001258	Spastic paraplegia	-	OMIM:615625
51308	REEP2	HP:0001257	Spasticity	4/4	OMIM:620606
51308	REEP2	HP:0001257	Spasticity	13/14	OMIM:615625
51308	REEP2	HP:0000007	Autosomal recessive inheritance	20/20	OMIM:620606
51308	REEP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615625
51308	REEP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:615625
51308	REEP2	HP:0002066	Gait ataxia	0/4	OMIM:620606
51308	REEP2	HP:0002063	Rigidity	HP:0040281	ORPHA:401849
51308	REEP2	HP:0002064	Spastic gait	4/4	OMIM:620606
51308	REEP2	HP:0002064	Spastic gait	HP:0040281	ORPHA:401849
51308	REEP2	HP:0002064	Spastic gait	14/14	OMIM:615625
51308	REEP2	HP:0003487	Babinski sign	4/4	OMIM:620606
51308	REEP2	HP:0003487	Babinski sign	13/13	OMIM:615625
51308	REEP2	HP:0002166	Impaired vibration sensation in the lower limbs	2/12	OMIM:615625
51308	REEP2	HP:0002174	Postural tremor	HP:0040283	ORPHA:401849
51308	REEP2	HP:0003552	Muscle stiffness	5/10	OMIM:615625
51308	REEP2	HP:0002395	Lower limb hyperreflexia	4/4	OMIM:620606
51308	REEP2	HP:0002395	Lower limb hyperreflexia	14/14	OMIM:615625
51308	REEP2	HP:0002354	Memory impairment	HP:0040283	ORPHA:401849
51308	REEP2	HP:0003677	Slowly progressive	-	OMIM:615625
51308	REEP2	HP:0003621	Juvenile onset	1/13	OMIM:615625
51308	REEP2	HP:0009046	Difficulty running	2/2	OMIM:620606
51308	REEP2	HP:0006938	Impaired vibration sensation at ankles	HP:0040283	ORPHA:401849
51308	REEP2	HP:0031993	Hoffmann sign	2/8	OMIM:615625
51308	REEP2	HP:0011463	Childhood onset	4/4	OMIM:620606
51308	REEP2	HP:0011463	Childhood onset	12/13	OMIM:615625
51308	REEP2	HP:0011446	Abnormality of mental function	HP:0040283	ORPHA:401849
51308	REEP2	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040282	ORPHA:401849
51308	REEP2	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040283	OMIM:615625
51308	REEP2	HP:0030051	Tip-toe gait	4/10	OMIM:615625
51308	REEP2	HP:0001761	Pes cavus	3/14	OMIM:615625
51308	REEP2	HP:0001761	Pes cavus	HP:0040282	ORPHA:401849
51308	REEP2	HP:0012531	Pain	HP:0040283	ORPHA:401849
51311	TLR8	HP:0010976	Decreased total B cell count	2/6	OMIM:301078
51311	TLR8	HP:0012156	Hemophagocytosis	1/6	OMIM:301078
51311	TLR8	HP:0001417	X-linked inheritance	-	OMIM:301078
51311	TLR8	HP:0002719	Recurrent infections	-	OMIM:301078
51311	TLR8	HP:0002716	Lymphadenopathy	2/6	OMIM:301078
51311	TLR8	HP:0003453	Antineutrophil antibody positivity	2/6	OMIM:301078
51311	TLR8	HP:0003593	Infantile onset	2/6	OMIM:301078
51311	TLR8	HP:0002240	Hepatomegaly	5/6	OMIM:301078
51311	TLR8	HP:0011974	Myelofibrosis	1/6	OMIM:301078
51311	TLR8	HP:0100651	Type I diabetes mellitus	1/6	OMIM:301078
51311	TLR8	HP:0020102	Pneumocystis jirovecii pneumonia	1/6	OMIM:301078
51311	TLR8	HP:0003621	Juvenile onset	3/6	OMIM:301078
51311	TLR8	HP:0005528	Bone marrow hypocellularity	3/6	OMIM:301078
51311	TLR8	HP:0009098	Chronic oral candidiasis	1/6	OMIM:301078
51311	TLR8	HP:0004315	Decreased circulating IgG concentration	5/6	OMIM:301078
51311	TLR8	HP:0012234	Absence of circulating granulocytes	2/6	OMIM:301078
51311	TLR8	HP:0001510	Growth delay	1/6	OMIM:301078
51311	TLR8	HP:0000403	Recurrent otitis media	2/6	OMIM:301078
51311	TLR8	HP:0011107	Recurrent aphthous stomatitis	1/6	OMIM:301078
51311	TLR8	HP:0001744	Splenomegaly	5/6	OMIM:301078
51311	TLR8	HP:0025708	Early young adult onset	1/6	OMIM:301078
51311	TLR8	HP:0001890	Autoimmune hemolytic anemia	4/6	OMIM:301078
51311	TLR8	HP:0001873	Thrombocytopenia	5/6	OMIM:301078
51311	TLR8	HP:0001875	Decreased total neutrophil count	6/6	OMIM:301078
51314	NME8	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
51314	NME8	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
51314	NME8	HP:0001217	Clubbing	HP:0040283	ORPHA:244
51314	NME8	HP:0000007	Autosomal recessive inheritance	-	OMIM:610852
51314	NME8	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
51314	NME8	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
51314	NME8	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
51314	NME8	HP:0031245	Productive cough	HP:0040282	ORPHA:244
51314	NME8	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
51314	NME8	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
51314	NME8	HP:0005938	Abnormal respiratory motile cilium morphology	-	OMIM:610852
51314	NME8	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
51314	NME8	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
51314	NME8	HP:0008222	Female infertility	HP:0040283	ORPHA:244
51314	NME8	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
51314	NME8	HP:0200109	Absent/shortened outer dynein arms	-	OMIM:610852
51314	NME8	HP:0002205	Recurrent respiratory infections	-	OMIM:610852
51314	NME8	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
51314	NME8	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
51314	NME8	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
51314	NME8	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
51314	NME8	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
51314	NME8	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
51314	NME8	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
51314	NME8	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
51314	NME8	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
51314	NME8	HP:0030828	Wheezing	HP:0040283	ORPHA:244
51314	NME8	HP:0003251	Male infertility	HP:0040282	ORPHA:244
51314	NME8	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
51314	NME8	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
51314	NME8	HP:0012265	Ciliary dyskinesia	-	OMIM:610852
51314	NME8	HP:0012262	Abnormal ciliary motility	-	OMIM:610852
51314	NME8	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
51314	NME8	HP:0000246	Sinusitis	-	OMIM:610852
51314	NME8	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
51314	NME8	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
51314	NME8	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
51314	NME8	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
51314	NME8	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
51314	NME8	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
51314	NME8	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
51314	NME8	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
51314	NME8	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
51314	NME8	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
51314	NME8	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
51314	NME8	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
51314	NME8	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
51314	NME8	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
51314	NME8	HP:0011108	Recurrent sinusitis	-	OMIM:610852
51314	NME8	HP:0001746	Asplenia	HP:0040284	ORPHA:244
51314	NME8	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
51314	NME8	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
51314	NME8	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
51314	NME8	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
51314	NME8	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
51317	PHF21A	HP:0001182	Tapered finger	3/7	OMIM:618725
51317	PHF21A	HP:0001159	Syndactyly	2/7	OMIM:618725
51317	PHF21A	HP:0001290	Generalized hypotonia	3/6	OMIM:618725
51317	PHF21A	HP:0001250	Seizure	4/7	OMIM:618725
51317	PHF21A	HP:0001250	Seizure	HP:0040282	ORPHA:52022
51317	PHF21A	HP:0001249	Intellectual disability	7/7	OMIM:618725
51317	PHF21A	HP:0001249	Intellectual disability	HP:0040283	ORPHA:52022
51317	PHF21A	HP:0001263	Global developmental delay	7/7	OMIM:618725
51317	PHF21A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:52022
51317	PHF21A	HP:0000054	Micropenis	HP:0040282	ORPHA:52022
51317	PHF21A	HP:0002697	Parietal foramina	HP:0040282	ORPHA:52022
51317	PHF21A	HP:0001357	Plagiocephaly	1/7	OMIM:618725
51317	PHF21A	HP:0002667	Nephroblastoma	HP:0040283	ORPHA:52022
51317	PHF21A	HP:0000006	Autosomal dominant inheritance	-	OMIM:618725
51317	PHF21A	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:52022
51317	PHF21A	HP:0100777	Exostoses	HP:0040281	ORPHA:52022
51317	PHF21A	HP:0007018	Attention deficit hyperactivity disorder	4/5	OMIM:618725
51317	PHF21A	HP:0004209	Clinodactyly of the 5th finger	4/7	OMIM:618725
51317	PHF21A	HP:0000639	Nystagmus	HP:0040282	ORPHA:52022
51317	PHF21A	HP:0001903	Anemia	HP:0040283	ORPHA:52022
51317	PHF21A	HP:0001999	Abnormal facial shape	-	OMIM:618725
51317	PHF21A	HP:0004331	Decreased skull ossification	HP:0040281	ORPHA:52022
51317	PHF21A	HP:0000739	Anxiety	4/5	OMIM:618725
51317	PHF21A	HP:0000750	Delayed speech and language development	7/7	OMIM:618725
51317	PHF21A	HP:0000729	Autistic behavior	3/6	OMIM:618725
51317	PHF21A	HP:0000822	Hypertension	HP:0040283	ORPHA:52022
51317	PHF21A	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:52022
51317	PHF21A	HP:0000823	Delayed puberty	HP:0040283	ORPHA:52022
51317	PHF21A	HP:0000286	Epicanthus	HP:0040281	ORPHA:52022
51317	PHF21A	HP:0000256	Macrocephaly	2/7	OMIM:618725
51317	PHF21A	HP:0000248	Brachycephaly	HP:0040281	ORPHA:52022
51317	PHF21A	HP:0001513	Obesity	4/7	OMIM:618725
51317	PHF21A	HP:0000347	Micrognathia	HP:0040281	ORPHA:52022
51317	PHF21A	HP:0000322	Short philtrum	HP:0040282	ORPHA:52022
51317	PHF21A	HP:0000486	Strabismus	HP:0040282	ORPHA:52022
51317	PHF21A	HP:0000455	Broad nasal tip	HP:0040281	ORPHA:52022
51317	PHF21A	HP:0000437	Depressed nasal tip	HP:0040281	ORPHA:52022
51317	PHF21A	HP:0000430	Underdeveloped nasal alae	HP:0040281	ORPHA:52022
51317	PHF21A	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:52022
51319	RSRC1	HP:0025162	Severe temper tantrums	4/4	OMIM:618402
51319	RSRC1	HP:0001270	Motor delay	5/5	OMIM:618402
51319	RSRC1	HP:0001250	Seizure	1/4	OMIM:618402
51319	RSRC1	HP:0001252	Hypotonia	5/5	OMIM:618402
51319	RSRC1	HP:0001249	Intellectual disability	8/8	OMIM:618402
51319	RSRC1	HP:0001263	Global developmental delay	5/5	OMIM:618402
51319	RSRC1	HP:0000020	Urinary incontinence	4/4	OMIM:618402
51319	RSRC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618402
51319	RSRC1	HP:0003593	Infantile onset	5/5	OMIM:618402
51319	RSRC1	HP:0007018	Attention deficit hyperactivity disorder	4/4	OMIM:618402
51319	RSRC1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	5/5	OMIM:618402
51319	RSRC1	HP:0002307	Drooling	5/5	OMIM:618402
51319	RSRC1	HP:0000750	Delayed speech and language development	4/4	OMIM:618402
51319	RSRC1	HP:0000729	Autistic behavior	1/4	OMIM:618402
51319	RSRC1	HP:0000278	Retrognathia	5/5	OMIM:618402
51319	RSRC1	HP:0000252	Microcephaly	1/5	OMIM:618402
51319	RSRC1	HP:0000316	Hypertelorism	-	OMIM:618402
51319	RSRC1	HP:0000431	Wide nasal bridge	5/5	OMIM:618402
51322	WAC	HP:0001156	Brachydactyly	HP:0040283	ORPHA:466950
51322	WAC	HP:0001290	Generalized hypotonia	-	OMIM:616708
51322	WAC	HP:0001270	Motor delay	HP:0040281	ORPHA:466950
51322	WAC	HP:0001270	Motor delay	HP:0040281	ORPHA:284169
51322	WAC	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:466950
51322	WAC	HP:0001250	Seizure	HP:0040282	ORPHA:284169
51322	WAC	HP:0001250	Seizure	2/6	OMIM:616708
51322	WAC	HP:0001249	Intellectual disability	HP:0040281	ORPHA:284169
51322	WAC	HP:0001249	Intellectual disability	HP:0040281	ORPHA:466950
51322	WAC	HP:0001260	Dysarthria	HP:0040283	ORPHA:466950
51322	WAC	HP:0001263	Global developmental delay	HP:0040281	ORPHA:284169
51322	WAC	HP:0001263	Global developmental delay	HP:0040281	ORPHA:466950
51322	WAC	HP:0001263	Global developmental delay	6/6	OMIM:616708
51322	WAC	HP:0001212	Prominent fingertip pads	HP:0040283	ORPHA:466950
51322	WAC	HP:0012076	Borderline personality disorder	HP:0040283	ORPHA:466950
51322	WAC	HP:0001344	Absent speech	HP:0040283	ORPHA:466950
51322	WAC	HP:0000006	Autosomal dominant inheritance	-	OMIM:616708
51322	WAC	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:284169
51322	WAC	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:284169
51322	WAC	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:466950
51322	WAC	HP:0002608	Celiac disease	HP:0040283	ORPHA:284169
51322	WAC	HP:0000154	Wide mouth	HP:0040283	ORPHA:466950
51322	WAC	HP:0002793	Abnormal pattern of respiration	HP:0040283	ORPHA:466950
51322	WAC	HP:0000125	Pelvic kidney	HP:0040283	ORPHA:466950
51322	WAC	HP:0002714	Downturned corners of mouth	-	OMIM:616708
51322	WAC	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:466950
51322	WAC	HP:0002019	Constipation	HP:0040282	ORPHA:284169
51322	WAC	HP:0002019	Constipation	5/6	OMIM:616708
51322	WAC	HP:0002019	Constipation	HP:0040282	ORPHA:466950
51322	WAC	HP:0002015	Dysphagia	HP:0040283	ORPHA:466950
51322	WAC	HP:0011800	Midface retrusion	-	OMIM:616708
51322	WAC	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:466950
51322	WAC	HP:0002099	Asthma	HP:0040283	ORPHA:466950
51322	WAC	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:466950
51322	WAC	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:284169
51322	WAC	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	OMIM:616708
51322	WAC	HP:0100581	Dilatation of renal calices	HP:0040283	ORPHA:466950
51322	WAC	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:466950
51322	WAC	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:466950
51322	WAC	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:284169
51322	WAC	HP:0011822	Broad chin	HP:0040283	ORPHA:466950
51322	WAC	HP:0003593	Infantile onset	-	OMIM:616708
51322	WAC	HP:0100702	Arachnoid cyst	HP:0040283	ORPHA:466950
51322	WAC	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:466950
51322	WAC	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:466950
51322	WAC	HP:0007018	Attention deficit hyperactivity disorder	HP:0040281	ORPHA:284169
51322	WAC	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:616708
51322	WAC	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:466950
51322	WAC	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:284169
51322	WAC	HP:0011968	Feeding difficulties	4/6	OMIM:616708
51322	WAC	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:284169
51322	WAC	HP:0002360	Sleep abnormality	2/6	OMIM:616708
51322	WAC	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:466950
51322	WAC	HP:0001007	Hirsutism	-	OMIM:616708
51322	WAC	HP:0001007	Hirsutism	HP:0040283	ORPHA:466950
51322	WAC	HP:0010800	Absent cupid's bow	HP:0040283	ORPHA:284169
51322	WAC	HP:0009794	Branchial anomaly	HP:0040283	ORPHA:466950
51322	WAC	HP:0004279	Short palm	HP:0040283	ORPHA:466950
51322	WAC	HP:0000637	Long palpebral fissure	HP:0040283	ORPHA:466950
51322	WAC	HP:0000646	Amblyopia	HP:0040283	ORPHA:284169
51322	WAC	HP:0001956	Truncal obesity	HP:0040283	ORPHA:466950
51322	WAC	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:466950
51322	WAC	HP:0000664	Synophrys	HP:0040283	ORPHA:284169
51322	WAC	HP:0000664	Synophrys	-	OMIM:616708
51322	WAC	HP:0000664	Synophrys	HP:0040283	ORPHA:466950
51322	WAC	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:284169
51322	WAC	HP:0000739	Anxiety	HP:0040282	ORPHA:284169
51322	WAC	HP:0000739	Anxiety	-	OMIM:616708
51322	WAC	HP:0000739	Anxiety	HP:0040282	ORPHA:466950
51322	WAC	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:466950
51322	WAC	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:284169
51322	WAC	HP:0000750	Delayed speech and language development	-	OMIM:616708
51322	WAC	HP:0012704	Widened subarachnoid space	HP:0040283	ORPHA:466950
51322	WAC	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:284169
51322	WAC	HP:0000718	Aggressive behavior	-	OMIM:616708
51322	WAC	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:466950
51322	WAC	HP:0000713	Agitation	-	OMIM:616708
51322	WAC	HP:0000729	Autistic behavior	HP:0040283	ORPHA:466950
51322	WAC	HP:0000729	Autistic behavior	HP:0040283	ORPHA:284169
51322	WAC	HP:0000708	Atypical behavior	HP:0040281	ORPHA:284169
51322	WAC	HP:0000708	Atypical behavior	5/6	OMIM:616708
51322	WAC	HP:0000708	Atypical behavior	HP:0040281	ORPHA:466950
51322	WAC	HP:0003196	Short nose	HP:0040283	ORPHA:284169
51322	WAC	HP:0003186	Inverted nipples	-	OMIM:616708
51322	WAC	HP:0003186	Inverted nipples	HP:0040283	ORPHA:466950
51322	WAC	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:466950
51322	WAC	HP:0008081	Pes valgus	HP:0040283	ORPHA:466950
51322	WAC	HP:0000286	Epicanthus	HP:0040283	ORPHA:466950
51322	WAC	HP:0000280	Coarse facial features	-	OMIM:616708
51322	WAC	HP:0000293	Full cheeks	HP:0040282	ORPHA:284169
51322	WAC	HP:0000293	Full cheeks	-	OMIM:616708
51322	WAC	HP:0000248	Brachycephaly	-	OMIM:616708
51322	WAC	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:466950
51322	WAC	HP:0000219	Thin upper lip vermilion	-	OMIM:616708
51322	WAC	HP:0001513	Obesity	HP:0040283	ORPHA:466950
51322	WAC	HP:0000377	Abnormal pinna morphology	-	OMIM:616708
51322	WAC	HP:0000395	Prominent antihelix	HP:0040283	ORPHA:466950
51322	WAC	HP:0000365	Hearing impairment	HP:0040283	ORPHA:466950
51322	WAC	HP:0000365	Hearing impairment	HP:0040283	ORPHA:284169
51322	WAC	HP:0000365	Hearing impairment	-	OMIM:616708
51322	WAC	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:466950
51322	WAC	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:284169
51322	WAC	HP:0000358	Posteriorly rotated ears	-	OMIM:616708
51322	WAC	HP:0000337	Broad forehead	-	OMIM:616708
51322	WAC	HP:0000337	Broad forehead	HP:0040283	ORPHA:466950
51322	WAC	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:284169
51322	WAC	HP:0000321	Square face	HP:0040282	ORPHA:466950
51322	WAC	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:284169
51322	WAC	HP:0000316	Hypertelorism	HP:0040283	ORPHA:466950
51322	WAC	HP:0000316	Hypertelorism	-	OMIM:616708
51322	WAC	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:284169
51322	WAC	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:284169
51322	WAC	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:284169
51322	WAC	HP:0001627	Abnormal heart morphology	HP:0040281	ORPHA:284169
51322	WAC	HP:0011171	Simple febrile seizure	HP:0040283	ORPHA:466950
51322	WAC	HP:0011147	Typical absence seizure	HP:0040283	ORPHA:466950
51322	WAC	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:616708
51322	WAC	HP:0001714	Ventricular hypertrophy	HP:0040283	ORPHA:284169
51322	WAC	HP:0005288	Abnormal nostril morphology	HP:0040283	ORPHA:466950
51322	WAC	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:466950
51322	WAC	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:284169
51322	WAC	HP:0005280	Depressed nasal bridge	-	OMIM:616708
51322	WAC	HP:0000483	Astigmatism	HP:0040282	ORPHA:284169
51322	WAC	HP:0000483	Astigmatism	-	OMIM:616708
51322	WAC	HP:0000486	Strabismus	HP:0040282	ORPHA:466950
51322	WAC	HP:0000486	Strabismus	HP:0040282	ORPHA:284169
51322	WAC	HP:0000486	Strabismus	-	OMIM:616708
51322	WAC	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:284169
51322	WAC	HP:0000490	Deeply set eye	HP:0040283	ORPHA:284169
51322	WAC	HP:0000490	Deeply set eye	-	OMIM:616708
51322	WAC	HP:0000490	Deeply set eye	HP:0040283	ORPHA:466950
51322	WAC	HP:0000455	Broad nasal tip	HP:0040283	ORPHA:466950
51322	WAC	HP:0000470	Short neck	-	OMIM:616708
51322	WAC	HP:0012443	Abnormal brain morphology	HP:0040281	ORPHA:284169
51322	WAC	HP:0001763	Pes planus	HP:0040283	ORPHA:466950
51322	WAC	HP:0000453	Choanal atresia	HP:0040283	ORPHA:284169
51322	WAC	HP:0000414	Bulbous nose	HP:0040283	ORPHA:284169
51322	WAC	HP:0000414	Bulbous nose	-	OMIM:616708
51322	WAC	HP:0000414	Bulbous nose	HP:0040283	ORPHA:466950
51322	WAC	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:466950
51322	WAC	HP:0000505	Visual impairment	HP:0040281	ORPHA:284169
51322	WAC	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:466950
51322	WAC	HP:0011220	Prominent forehead	HP:0040283	ORPHA:284169
51322	WAC	HP:0011220	Prominent forehead	-	OMIM:616708
51322	WAC	HP:0011220	Prominent forehead	HP:0040283	ORPHA:466950
51322	WAC	HP:0000572	Visual loss	HP:0040283	ORPHA:466950
51322	WAC	HP:0000574	Thick eyebrow	-	OMIM:616708
51322	WAC	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:466950
51322	WAC	HP:0000567	Chorioretinal coloboma	HP:0040283	ORPHA:284169
51322	WAC	HP:0000540	Hypermetropia	HP:0040283	ORPHA:284169
51322	WAC	HP:0000539	Abnormality of refraction	HP:0040283	ORPHA:466950
51322	WAC	HP:0000545	Myopia	HP:0040283	ORPHA:284169
51322	WAC	HP:0000545	Myopia	-	OMIM:616708
51324	SPG21	HP:0002476	Primitive reflex	9/13	OMIM:248900
51324	SPG21	HP:0002476	Primitive reflex	HP:0040282	ORPHA:101001
51324	SPG21	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:101001
51324	SPG21	HP:0001276	Hypertonia	14/14	OMIM:248900
51324	SPG21	HP:0001272	Cerebellar atrophy	3/3	OMIM:248900
51324	SPG21	HP:0001270	Motor delay	10/11	OMIM:248900
51324	SPG21	HP:0001268	Mental deterioration	HP:0040282	ORPHA:101001
51324	SPG21	HP:0001288	Gait disturbance	HP:0040282	ORPHA:101001
51324	SPG21	HP:0001288	Gait disturbance	14/14	OMIM:248900
51324	SPG21	HP:0001260	Dysarthria	14/14	OMIM:248900
51324	SPG21	HP:0001263	Global developmental delay	HP:0040282	ORPHA:101001
51324	SPG21	HP:0001258	Spastic paraplegia	-	OMIM:248900
51324	SPG21	HP:0001257	Spasticity	HP:0040282	ORPHA:101001
51324	SPG21	HP:0007340	Lower limb muscle weakness	-	OMIM:248900
51324	SPG21	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:101001
51324	SPG21	HP:0033683	Jaw hyperreflexia	7/12	OMIM:248900
51324	SPG21	HP:0012075	Personality disorder	HP:0040282	ORPHA:101001
51324	SPG21	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:101001
51324	SPG21	HP:0001347	Hyperreflexia	14/14	OMIM:248900
51324	SPG21	HP:0033725	Thin corpus callosum	3/3	OMIM:248900
51324	SPG21	HP:0000007	Autosomal recessive inheritance	-	OMIM:248900
51324	SPG21	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:101001
51324	SPG21	HP:0002015	Dysphagia	HP:0040282	ORPHA:101001
51324	SPG21	HP:0002015	Dysphagia	9/14	OMIM:248900
51324	SPG21	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:101001
51324	SPG21	HP:0002075	Dysdiadochokinesis	-	OMIM:248900
51324	SPG21	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:101001
51324	SPG21	HP:0002059	Cerebral atrophy	3/3	OMIM:248900
51324	SPG21	HP:0003487	Babinski sign	14/14	OMIM:248900
51324	SPG21	HP:0002186	Apraxia	HP:0040283	OMIM:248900
51324	SPG21	HP:0002186	Apraxia	HP:0040282	ORPHA:101001
51324	SPG21	HP:0010526	Dysgraphia	HP:0040282	ORPHA:101001
51324	SPG21	HP:0003677	Slowly progressive	-	OMIM:248900
51324	SPG21	HP:0002313	Spastic paraparesis	-	OMIM:248900
51324	SPG21	HP:0009830	Peripheral neuropathy	HP:0040283	OMIM:248900
51324	SPG21	HP:0002311	Incoordination	-	OMIM:248900
51324	SPG21	HP:0002305	Athetosis	3/14	OMIM:248900
51324	SPG21	HP:0006892	Frontotemporal cerebral atrophy	HP:0040282	ORPHA:101001
51324	SPG21	HP:0012672	Akinetic mutism	-	OMIM:248900
51324	SPG21	HP:0000726	Dementia	14/14	OMIM:248900
51324	SPG21	HP:0000726	Dementia	HP:0040281	ORPHA:101001
51324	SPG21	HP:0011463	Childhood onset	-	OMIM:248900
51324	SPG21	HP:0003134	Abnormality of peripheral nerve conduction	HP:0040282	ORPHA:101001
51324	SPG21	HP:0030891	Periventricular white matter hyperintensities	1/1	OMIM:248900
51339	DACT1	HP:0001177	Preaxial hand polydactyly	HP:0040281	ORPHA:857
51339	DACT1	HP:0002475	Myelomeningocele	HP:0040281	ORPHA:63260
51339	DACT1	HP:0001140	Limbal dermoid	HP:0040283	ORPHA:857
51339	DACT1	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:857
51339	DACT1	HP:0001199	Triphalangeal thumb	HP:0040281	ORPHA:857
51339	DACT1	HP:0009912	Abnormal tragus morphology	HP:0040283	ORPHA:857
51339	DACT1	HP:0008551	Microtia	5/5	OMIM:617466
51339	DACT1	HP:0008551	Microtia	HP:0040282	ORPHA:857
51339	DACT1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:857
51339	DACT1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:857
51339	DACT1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:857
51339	DACT1	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:857
51339	DACT1	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:857
51339	DACT1	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:857
51339	DACT1	HP:0000076	Vesicoureteral reflux	2/5	OMIM:617466
51339	DACT1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:857
51339	DACT1	HP:0000048	Bifid scrotum	HP:0040283	ORPHA:857
51339	DACT1	HP:0000047	Hypospadias	1/3	OMIM:617466
51339	DACT1	HP:0000047	Hypospadias	HP:0040283	ORPHA:857
51339	DACT1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:857
51339	DACT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617466
51339	DACT1	HP:0002650	Scoliosis	-	OMIM:617466
51339	DACT1	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:857
51339	DACT1	HP:0000143	Rectovaginal fistula	1/6	OMIM:617466
51339	DACT1	HP:0000143	Rectovaginal fistula	HP:0040281	ORPHA:857
51339	DACT1	HP:0000142	Abnormal vagina morphology	HP:0040283	ORPHA:857
51339	DACT1	HP:0000136	Bifid uterus	1/2	OMIM:617466
51339	DACT1	HP:0000154	Wide mouth	HP:0040283	ORPHA:857
51339	DACT1	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:857
51339	DACT1	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:857
51339	DACT1	HP:0002023	Anal atresia	2/6	OMIM:617466
51339	DACT1	HP:0002023	Anal atresia	HP:0040281	ORPHA:857
51339	DACT1	HP:0002023	Anal atresia	HP:0040283	ORPHA:63260
51339	DACT1	HP:0002019	Constipation	HP:0040282	ORPHA:857
51339	DACT1	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:857
51339	DACT1	HP:0009465	Ulnar deviation of finger	HP:0040283	ORPHA:857
51339	DACT1	HP:0010497	Sirenomelia	HP:0040283	ORPHA:63260
51339	DACT1	HP:0010481	Urethral valve	HP:0040283	ORPHA:857
51339	DACT1	HP:0003468	Abnormal vertebral morphology	HP:0040283	ORPHA:857
51339	DACT1	HP:0004792	Rectoperineal fistula	HP:0040281	ORPHA:857
51339	DACT1	HP:0004736	Crossed fused renal ectopia	2/5	OMIM:617466
51339	DACT1	HP:0002323	Anencephaly	HP:0040281	ORPHA:63260
51339	DACT1	HP:0010760	Absent toe	HP:0040283	ORPHA:857
51339	DACT1	HP:0002308	Chiari malformation	HP:0040283	ORPHA:857
51339	DACT1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:857
51339	DACT1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:857
51339	DACT1	HP:0010059	Broad hallux phalanx	HP:0040283	ORPHA:857
51339	DACT1	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:857
51339	DACT1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:857
51339	DACT1	HP:0011304	Broad thumb	HP:0040283	ORPHA:857
51339	DACT1	HP:0004322	Short stature	HP:0040283	ORPHA:857
51339	DACT1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:857
51339	DACT1	HP:0000772	Abnormal rib morphology	HP:0040283	ORPHA:857
51339	DACT1	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:63260
51339	DACT1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:857
51339	DACT1	HP:0000823	Delayed puberty	HP:0040283	ORPHA:857
51339	DACT1	HP:0005857	Cervical spina bifida	HP:0040281	ORPHA:63260
51339	DACT1	HP:0003298	Spina bifida occulta	1/6	OMIM:617466
51339	DACT1	HP:0010331	Aplasia/Hypoplasia of the 3rd toe	HP:0040283	ORPHA:857
51339	DACT1	HP:0010309	Bifid sternum	HP:0040283	ORPHA:63260
51339	DACT1	HP:0010301	Spinal dysraphism	HP:0040281	ORPHA:63260
51339	DACT1	HP:0012210	Abnormal renal morphology	HP:0040283	ORPHA:857
51339	DACT1	HP:0001545	Anteriorly placed anus	HP:0040282	ORPHA:857
51339	DACT1	HP:0001539	Omphalocele	HP:0040283	ORPHA:63260
51339	DACT1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:857
51339	DACT1	HP:0000384	Preauricular skin tag	HP:0040281	ORPHA:857
51339	DACT1	HP:0000378	Cupped ear	2/5	OMIM:617466
51339	DACT1	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:857
51339	DACT1	HP:0000396	Overfolded helix	2/5	OMIM:617466
51339	DACT1	HP:0000396	Overfolded helix	HP:0040282	ORPHA:857
51339	DACT1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:857
51339	DACT1	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:857
51339	DACT1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:857
51339	DACT1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:857
51339	DACT1	HP:0001641	Abnormal pulmonary valve morphology	HP:0040283	ORPHA:857
51339	DACT1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:857
51339	DACT1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:857
51339	DACT1	HP:0000486	Strabismus	HP:0040283	ORPHA:857
51339	DACT1	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:857
51339	DACT1	HP:0001763	Pes planus	HP:0040282	ORPHA:857
51339	DACT1	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:857
51339	DACT1	HP:0000518	Cataract	HP:0040283	ORPHA:857
51339	DACT1	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:857
51339	DACT1	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:857
51339	DACT1	HP:0000568	Microphthalmia	HP:0040283	ORPHA:857
51339	DACT1	HP:0000567	Chorioretinal coloboma	HP:0040283	ORPHA:857
51339	DACT1	HP:0001863	Toe clinodactyly	HP:0040282	ORPHA:857
51341	ZBTB7A	HP:0001270	Motor delay	9/11	OMIM:619769
51341	ZBTB7A	HP:0001250	Seizure	2/12	OMIM:619769
51341	ZBTB7A	HP:0001252	Hypotonia	1/1	OMIM:619769
51341	ZBTB7A	HP:0001249	Intellectual disability	13/13	OMIM:619769
51341	ZBTB7A	HP:0001263	Global developmental delay	1/1	OMIM:619769
51341	ZBTB7A	HP:0025352	Typically de novo	-	OMIM:619769
51341	ZBTB7A	HP:0000006	Autosomal dominant inheritance	-	OMIM:619769
51341	ZBTB7A	HP:0006335	Persistence of primary teeth	1/12	OMIM:619769
51341	ZBTB7A	HP:0002788	Recurrent upper respiratory tract infections	10/11	OMIM:619769
51341	ZBTB7A	HP:0002020	Gastroesophageal reflux	4/12	OMIM:619769
51341	ZBTB7A	HP:0002036	Hiatus hernia	1/12	OMIM:619769
51341	ZBTB7A	HP:0040261	Increased size of nasopharyngeal adenoids	12/12	OMIM:619769
51341	ZBTB7A	HP:0011904	Persistence of hemoglobin F	4/5	OMIM:619769
51341	ZBTB7A	HP:0010535	Sleep apnea	9/11	OMIM:619769
51341	ZBTB7A	HP:0003577	Congenital onset	1/1	OMIM:619769
51341	ZBTB7A	HP:0011968	Feeding difficulties	1/12	OMIM:619769
51341	ZBTB7A	HP:0000678	Dental crowding	5/12	OMIM:619769
51341	ZBTB7A	HP:0000750	Delayed speech and language development	10/13	OMIM:619769
51341	ZBTB7A	HP:0000729	Autistic behavior	7/12	OMIM:619769
51341	ZBTB7A	HP:0000256	Macrocephaly	12/13	OMIM:619769
51341	ZBTB7A	HP:0025502	Overweight	7/10	OMIM:619769
51341	ZBTB7A	HP:0001537	Umbilical hernia	3/12	OMIM:619769
51341	ZBTB7A	HP:0006532	Recurrent pneumonia	3/12	OMIM:619769
51341	ZBTB7A	HP:0001601	Laryngomalacia	2/12	OMIM:619769
51341	ZBTB7A	HP:0001643	Patent ductus arteriosus	1/12	OMIM:619769
51341	ZBTB7A	HP:0001629	Ventricular septal defect	1/12	OMIM:619769
51341	ZBTB7A	HP:0001631	Atrial septal defect	2/12	OMIM:619769
51341	ZBTB7A	HP:0000483	Astigmatism	3/12	OMIM:619769
51341	ZBTB7A	HP:0011220	Prominent forehead	1/1	OMIM:619769
51343	FZR1	HP:0010864	Intellectual disability, severe	2/3	OMIM:620145
51343	FZR1	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
51343	FZR1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
51343	FZR1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
51343	FZR1	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
51343	FZR1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
51343	FZR1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
51343	FZR1	HP:0001250	Seizure	HP:0040282	ORPHA:442835
51343	FZR1	HP:0001252	Hypotonia	1/3	OMIM:620145
51343	FZR1	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
51343	FZR1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
51343	FZR1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
51343	FZR1	HP:0001265	Hyporeflexia	1/3	OMIM:620145
51343	FZR1	HP:0001263	Global developmental delay	2/3	OMIM:620145
51343	FZR1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
51343	FZR1	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
51343	FZR1	HP:0001257	Spasticity	1/1	OMIM:620145
51343	FZR1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
51343	FZR1	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
51343	FZR1	HP:0001347	Hyperreflexia	1/1	OMIM:620145
51343	FZR1	HP:0001337	Tremor	HP:0040283	ORPHA:442835
51343	FZR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620145
51343	FZR1	HP:0001336	Myoclonus	1/3	OMIM:620145
51343	FZR1	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
51343	FZR1	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
51343	FZR1	HP:0008936	Axial hypotonia	1/1	OMIM:620145
51343	FZR1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
51343	FZR1	HP:0002094	Dyspnea	1/1	OMIM:620145
51343	FZR1	HP:0002069	Bilateral tonic-clonic seizure	3/4	OMIM:620145
51343	FZR1	HP:0002066	Gait ataxia	3/3	OMIM:620145
51343	FZR1	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
51343	FZR1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
51343	FZR1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
51343	FZR1	HP:0002188	Delayed CNS myelination	1/3	OMIM:620145
51343	FZR1	HP:0003593	Infantile onset	1/3	OMIM:620145
51343	FZR1	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
51343	FZR1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
51343	FZR1	HP:0011968	Feeding difficulties	1/3	OMIM:620145
51343	FZR1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
51343	FZR1	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
51343	FZR1	HP:0002342	Intellectual disability, moderate	1/3	OMIM:620145
51343	FZR1	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
51343	FZR1	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
51343	FZR1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
51343	FZR1	HP:0010819	Atonic seizure	2/3	OMIM:620145
51343	FZR1	HP:0006813	Focal hemiclonic seizure	1/1	OMIM:620145
51343	FZR1	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
51343	FZR1	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
51343	FZR1	HP:0011344	Severe global developmental delay	1/1	OMIM:620145
51343	FZR1	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
51343	FZR1	HP:0004322	Short stature	HP:0040283	ORPHA:442835
51343	FZR1	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
51343	FZR1	HP:0034197	Third trimester onset	1/1	OMIM:620145
51343	FZR1	HP:0000752	Hyperactivity	1/3	OMIM:620145
51343	FZR1	HP:0000750	Delayed speech and language development	3/3	OMIM:620145
51343	FZR1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
51343	FZR1	HP:0000717	Autism	HP:0040283	ORPHA:442835
51343	FZR1	HP:0000729	Autistic behavior	1/3	OMIM:620145
51343	FZR1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
51343	FZR1	HP:0011463	Childhood onset	2/3	OMIM:620145
51343	FZR1	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
51343	FZR1	HP:0011451	Primary microcephaly	1/1	OMIM:620145
51343	FZR1	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
51343	FZR1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
51343	FZR1	HP:0001508	Failure to thrive	1/1	OMIM:620145
51343	FZR1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
51343	FZR1	HP:0001511	Intrauterine growth retardation	1/1	OMIM:620145
51343	FZR1	HP:0025682	Crouch gait	1/3	OMIM:620145
51343	FZR1	HP:0032792	Tonic seizure	1/3	OMIM:620145
51343	FZR1	HP:0000348	High forehead	HP:0040283	ORPHA:442835
51343	FZR1	HP:0032794	Myoclonic seizure	2/3	OMIM:620145
51343	FZR1	HP:0011147	Typical absence seizure	1/3	OMIM:620145
51343	FZR1	HP:0001712	Left ventricular hypertrophy	1/1	OMIM:620145
51343	FZR1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
51343	FZR1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
51343	FZR1	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
51343	FZR1	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
51343	FZR1	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
51343	FZR1	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
51343	FZR1	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
51360	MBTPS2	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0001162	Postaxial hand polydactyly	HP:0040283	OMIM:308205
51360	MBTPS2	HP:0001162	Postaxial hand polydactyly	HP:0040282	ORPHA:85284
51360	MBTPS2	HP:0001131	Corneal dystrophy	-	OMIM:308800
51360	MBTPS2	HP:0001131	Corneal dystrophy	HP:0040283	ORPHA:2340
51360	MBTPS2	HP:0010935	Abnormality of the upper urinary tract	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:85284
51360	MBTPS2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
51360	MBTPS2	HP:0001293	Cranial nerve compression	-	OMIM:131300
51360	MBTPS2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0001270	Motor delay	1/13	OMIM:308205
51360	MBTPS2	HP:0100825	Cheilitis	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0001268	Mental deterioration	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0001256	Intellectual disability, mild	-	OMIM:259770
51360	MBTPS2	HP:0001250	Seizure	-	OMIM:308205
51360	MBTPS2	HP:0001250	Seizure	HP:0040283	ORPHA:659
51360	MBTPS2	HP:0001250	Seizure	HP:0040281	ORPHA:2273
51360	MBTPS2	HP:0001252	Hypotonia	-	OMIM:259770
51360	MBTPS2	HP:0001252	Hypotonia	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0001252	Hypotonia	2/7	OMIM:615777
51360	MBTPS2	HP:0001249	Intellectual disability	-	OMIM:308205
51360	MBTPS2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2273
51360	MBTPS2	HP:0001249	Intellectual disability	5/7	OMIM:615777
51360	MBTPS2	HP:0001263	Global developmental delay	1/13	OMIM:308205
51360	MBTPS2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:85284
51360	MBTPS2	HP:0001263	Global developmental delay	1/1	OMIM:612394
51360	MBTPS2	HP:0001263	Global developmental delay	-	OMIM:615777
51360	MBTPS2	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:659
51360	MBTPS2	HP:0007418	Alopecia totalis	-	OMIM:300918
51360	MBTPS2	HP:0007410	Palmoplantar hyperhidrosis	HP:0040281	ORPHA:659
51360	MBTPS2	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:85284
51360	MBTPS2	HP:0500262	Atrichia	12/13	OMIM:308205
51360	MBTPS2	HP:0031057	Skin fissure	HP:0040281	ORPHA:659
51360	MBTPS2	HP:0002542	Olivopontocerebellar atrophy	-	OMIM:308205
51360	MBTPS2	HP:0002515	Waddling gait	54/102	OMIM:131300
51360	MBTPS2	HP:0031013	Ankylosis	HP:0040281	ORPHA:659
51360	MBTPS2	HP:0003819	Death in childhood	2/13	OMIM:308205
51360	MBTPS2	HP:0003811	Neonatal death	2/13	OMIM:308205
51360	MBTPS2	HP:0003811	Neonatal death	HP:0040282	ORPHA:85284
51360	MBTPS2	HP:0000089	Renal hypoplasia	HP:0040281	ORPHA:85284
51360	MBTPS2	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:85284
51360	MBTPS2	HP:0000072	Hydroureter	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0001382	Joint hypermobility	-	OMIM:259770
51360	MBTPS2	HP:0001382	Joint hypermobility	-	OMIM:615777
51360	MBTPS2	HP:0001382	Joint hypermobility	0/8	OMIM:301014
51360	MBTPS2	HP:0000047	Hypospadias	1/13	OMIM:308205
51360	MBTPS2	HP:0000023	Inguinal hernia	3/13	OMIM:308205
51360	MBTPS2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
51360	MBTPS2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
51360	MBTPS2	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:85284
51360	MBTPS2	HP:0000028	Cryptorchidism	1/13	OMIM:308205
51360	MBTPS2	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:85284
51360	MBTPS2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
51360	MBTPS2	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
51360	MBTPS2	HP:0007502	Follicular hyperkeratosis	-	OMIM:308800
51360	MBTPS2	HP:0007502	Follicular hyperkeratosis	-	OMIM:308205
51360	MBTPS2	HP:0007502	Follicular hyperkeratosis	HP:0040282	ORPHA:2340
51360	MBTPS2	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
51360	MBTPS2	HP:0001331	Absent septum pellucidum	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0001328	Specific learning disability	HP:0040281	ORPHA:2273
51360	MBTPS2	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
51360	MBTPS2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
51360	MBTPS2	HP:0001324	Muscle weakness	40/96	OMIM:131300
51360	MBTPS2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
51360	MBTPS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
51360	MBTPS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
51360	MBTPS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
51360	MBTPS2	HP:0000003	Multicystic kidney dysplasia	-	OMIM:308205
51360	MBTPS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
51360	MBTPS2	HP:0002650	Scoliosis	1/5	OMIM:259770
51360	MBTPS2	HP:0002650	Scoliosis	-	OMIM:308205
51360	MBTPS2	HP:0002650	Scoliosis	HP:0040282	ORPHA:85284
51360	MBTPS2	HP:0002650	Scoliosis	1/1	OMIM:612394
51360	MBTPS2	HP:0002650	Scoliosis	4/8	OMIM:301014
51360	MBTPS2	HP:0002650	Scoliosis	12/14	OMIM:131300
51360	MBTPS2	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
51360	MBTPS2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
51360	MBTPS2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
51360	MBTPS2	HP:0008905	Rhizomelia	1/1	OMIM:301014
51360	MBTPS2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
51360	MBTPS2	HP:0012165	Oligodactyly	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:659
51360	MBTPS2	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
51360	MBTPS2	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:659
51360	MBTPS2	HP:0000175	Cleft palate	1/13	OMIM:308205
51360	MBTPS2	HP:0000175	Cleft palate	HP:0040282	ORPHA:85284
51360	MBTPS2	HP:0000175	Cleft palate	2/7	OMIM:615777
51360	MBTPS2	HP:0000168	Abnormality of the gingiva	HP:0040283	ORPHA:659
51360	MBTPS2	HP:0002797	Osteolysis	HP:0040283	ORPHA:659
51360	MBTPS2	HP:0031291	Ichthyosis follicularis	10/13	OMIM:308205
51360	MBTPS2	HP:0000122	Unilateral renal agenesis	1/13	OMIM:308205
51360	MBTPS2	HP:0002788	Recurrent upper respiratory tract infections	1/13	OMIM:308205
51360	MBTPS2	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0002757	Recurrent fractures	4/5	OMIM:259770
51360	MBTPS2	HP:0002757	Recurrent fractures	8/8	OMIM:301014
51360	MBTPS2	HP:0002756	Pathologic fracture	-	OMIM:259770
51360	MBTPS2	HP:0002756	Pathologic fracture	1/1	OMIM:612394
51360	MBTPS2	HP:0000110	Renal dysplasia	-	OMIM:308205
51360	MBTPS2	HP:0000110	Renal dysplasia	HP:0040282	ORPHA:85284
51360	MBTPS2	HP:0000104	Renal agenesis	1/13	OMIM:308205
51360	MBTPS2	HP:0002751	Kyphoscoliosis	-	OMIM:259770
51360	MBTPS2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0001419	X-linked recessive inheritance	-	OMIM:300918
51360	MBTPS2	HP:0001419	X-linked recessive inheritance	-	OMIM:308800
51360	MBTPS2	HP:0001419	X-linked recessive inheritance	-	OMIM:301014
51360	MBTPS2	HP:0001419	X-linked recessive inheritance	-	OMIM:308205
51360	MBTPS2	HP:0002719	Recurrent infections	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0002718	Recurrent bacterial infections	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
51360	MBTPS2	HP:0002721	Immunodeficiency	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0002007	Frontal bossing	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0003316	Butterfly vertebrae	2/13	OMIM:308205
51360	MBTPS2	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:659
51360	MBTPS2	HP:0100534	Episcleritis	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0100532	Scleritis	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0033195	Perianal erythema	1/13	OMIM:308205
51360	MBTPS2	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
51360	MBTPS2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:308205
51360	MBTPS2	HP:0002046	Heat intolerance	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0003388	Easy fatigability	36/76	OMIM:131300
51360	MBTPS2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
51360	MBTPS2	HP:0100565	Hydromyelia	1/13	OMIM:308205
51360	MBTPS2	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
51360	MBTPS2	HP:0003468	Abnormal vertebral morphology	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0002119	Ventriculomegaly	-	OMIM:308205
51360	MBTPS2	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
51360	MBTPS2	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
51360	MBTPS2	HP:0002164	Nail dysplasia	1/1	OMIM:612394
51360	MBTPS2	HP:0002164	Nail dysplasia	-	OMIM:308205
51360	MBTPS2	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0010557	Overlapping fingers	1/2	OMIM:612394
51360	MBTPS2	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
51360	MBTPS2	HP:0011830	Abnormal oral mucosa morphology	HP:0040283	ORPHA:659
51360	MBTPS2	HP:0003593	Infantile onset	1/5	OMIM:259770
51360	MBTPS2	HP:0003577	Congenital onset	4/5	OMIM:259770
51360	MBTPS2	HP:0003577	Congenital onset	13/13	OMIM:308205
51360	MBTPS2	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0002251	Aganglionic megacolon	2/13	OMIM:308205
51360	MBTPS2	HP:0002251	Aganglionic megacolon	HP:0040282	ORPHA:85284
51360	MBTPS2	HP:0002223	Absent eyebrow	1/13	OMIM:308205
51360	MBTPS2	HP:0002223	Absent eyebrow	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0002209	Sparse scalp hair	2/15	OMIM:308205
51360	MBTPS2	HP:0002208	Coarse hair	1/1	OMIM:612394
51360	MBTPS2	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0008404	Nail dystrophy	-	OMIM:308800
51360	MBTPS2	HP:0008404	Nail dystrophy	3/13	OMIM:308205
51360	MBTPS2	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:2340
51360	MBTPS2	HP:0002287	Progressive alopecia	HP:0040282	ORPHA:2340
51360	MBTPS2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0003510	Severe short stature	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0003510	Severe short stature	7/7	OMIM:615777
51360	MBTPS2	HP:0003510	Severe short stature	-	OMIM:301014
51360	MBTPS2	HP:0008392	Subungual hyperkeratosis	-	OMIM:300918
51360	MBTPS2	HP:0008392	Subungual hyperkeratosis	1/13	OMIM:308205
51360	MBTPS2	HP:0008391	Dystrophic fingernails	-	OMIM:308800
51360	MBTPS2	HP:0008391	Dystrophic fingernails	2/15	OMIM:308205
51360	MBTPS2	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
51360	MBTPS2	HP:0025019	Arterial rupture	1/1	OMIM:612394
51360	MBTPS2	HP:0001036	Parakeratosis	-	OMIM:300918
51360	MBTPS2	HP:0001047	Atopic dermatitis	HP:0040283	ORPHA:2340
51360	MBTPS2	HP:0002376	Developmental regression	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0001041	Facial erythema	-	OMIM:308800
51360	MBTPS2	HP:0001041	Facial erythema	HP:0040282	ORPHA:2340
51360	MBTPS2	HP:0001025	Urticaria	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0001019	Erythroderma	-	OMIM:308205
51360	MBTPS2	HP:0002315	Headache	-	OMIM:131300
51360	MBTPS2	HP:0004976	Knee dislocation	6/7	OMIM:615777
51360	MBTPS2	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
51360	MBTPS2	HP:0200020	Corneal erosion	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0025092	Epidermal acanthosis	-	OMIM:300918
51360	MBTPS2	HP:0200034	Papule	HP:0040281	ORPHA:2273
51360	MBTPS2	HP:0025084	Folliculitis	-	OMIM:308800
51360	MBTPS2	HP:0025084	Folliculitis	HP:0040282	ORPHA:2340
51360	MBTPS2	HP:0001072	Thickened skin	HP:0040281	ORPHA:659
51360	MBTPS2	HP:0009803	Short phalanx of finger	-	OMIM:615777
51360	MBTPS2	HP:0200042	Skin ulcer	HP:0040282	ORPHA:659
51360	MBTPS2	HP:0001089	Iris atrophy	-	OMIM:259770
51360	MBTPS2	HP:0010783	Erythema	HP:0040281	ORPHA:659
51360	MBTPS2	HP:0010783	Erythema	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0032152	Keratosis pilaris	-	OMIM:308800
51360	MBTPS2	HP:0032152	Keratosis pilaris	HP:0040282	ORPHA:2340
51360	MBTPS2	HP:0009763	Limb pain	63/92	OMIM:131300
51360	MBTPS2	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
51360	MBTPS2	HP:0008422	Vertebral wedging	2/2	OMIM:301014
51360	MBTPS2	HP:0002308	Chiari malformation	1/13	OMIM:308205
51360	MBTPS2	HP:0003621	Juvenile onset	-	OMIM:131300
51360	MBTPS2	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
51360	MBTPS2	HP:0033425	Periungual erythema	1/13	OMIM:308205
51360	MBTPS2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
51360	MBTPS2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
51360	MBTPS2	HP:0000639	Nystagmus	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:6001056	Out-toeing	-	OMIM:131300
51360	MBTPS2	HP:0000651	Diplopia	-	OMIM:131300
51360	MBTPS2	HP:0000618	Blindness	5/5	OMIM:259770
51360	MBTPS2	HP:0000613	Photophobia	HP:0040281	ORPHA:2273
51360	MBTPS2	HP:0000613	Photophobia	HP:0040283	ORPHA:2340
51360	MBTPS2	HP:0000613	Photophobia	-	OMIM:308800
51360	MBTPS2	HP:0000613	Photophobia	10/13	OMIM:308205
51360	MBTPS2	HP:0000612	Iris coloboma	HP:0040282	ORPHA:85284
51360	MBTPS2	HP:0000614	Abnormal nasolacrimal system morphology	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0001956	Truncal obesity	2/7	OMIM:615777
51360	MBTPS2	HP:0000609	Optic nerve hypoplasia	HP:0040281	ORPHA:85284
51360	MBTPS2	HP:0001903	Anemia	HP:0040283	OMIM:131300
51360	MBTPS2	HP:0010049	Short metacarpal	-	OMIM:615777
51360	MBTPS2	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0000678	Dental crowding	-	OMIM:615777
51360	MBTPS2	HP:0000656	Ectropion	-	OMIM:308800
51360	MBTPS2	HP:0000653	Sparse eyelashes	-	OMIM:308800
51360	MBTPS2	HP:0000653	Sparse eyelashes	HP:0040282	ORPHA:2340
51360	MBTPS2	HP:0000670	Carious teeth	HP:0040282	ORPHA:659
51360	MBTPS2	HP:0000670	Carious teeth	-	OMIM:131300
51360	MBTPS2	HP:0011304	Broad thumb	2/7	OMIM:615777
51360	MBTPS2	HP:0000668	Hypodontia	HP:0040282	ORPHA:659
51360	MBTPS2	HP:0000668	Hypodontia	-	OMIM:615777
51360	MBTPS2	HP:0000667	Phthisis bulbi	-	OMIM:259770
51360	MBTPS2	HP:0000664	Synophrys	-	OMIM:615777
51360	MBTPS2	HP:0004322	Short stature	-	OMIM:308205
51360	MBTPS2	HP:0004322	Short stature	-	OMIM:259770
51360	MBTPS2	HP:0030674	Antenatal onset	7/7	OMIM:301014
51360	MBTPS2	HP:0004396	Poor appetite	-	OMIM:131300
51360	MBTPS2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
51360	MBTPS2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
51360	MBTPS2	HP:0004370	Abnormality of temperature regulation	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0003016	Metaphyseal widening	-	OMIM:259770
51360	MBTPS2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
51360	MBTPS2	HP:0003026	Short long bone	7/7	OMIM:615777
51360	MBTPS2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
51360	MBTPS2	HP:0012742	Thin fingernail	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
51360	MBTPS2	HP:0000767	Pectus excavatum	1/8	OMIM:301014
51360	MBTPS2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
51360	MBTPS2	HP:0000768	Pectus carinatum	3/8	OMIM:301014
51360	MBTPS2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
51360	MBTPS2	HP:0000750	Delayed speech and language development	-	OMIM:615777
51360	MBTPS2	HP:0000726	Dementia	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0000703	Dentinogenesis imperfecta	0/8	OMIM:301014
51360	MBTPS2	HP:0011496	Corneal neovascularization	1/13	OMIM:308205
51360	MBTPS2	HP:0011461	Fetal onset	7/7	OMIM:615777
51360	MBTPS2	HP:0011461	Fetal onset	2/2	OMIM:612394
51360	MBTPS2	HP:0000774	Narrow chest	2/7	OMIM:615777
51360	MBTPS2	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
51360	MBTPS2	HP:0003196	Short nose	1/1	OMIM:612394
51360	MBTPS2	HP:0000925	Abnormality of the vertebral column	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0000926	Platyspondyly	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0000926	Platyspondyly	-	OMIM:259770
51360	MBTPS2	HP:0000926	Platyspondyly	1/7	OMIM:615777
51360	MBTPS2	HP:0000926	Platyspondyly	1/1	OMIM:612394
51360	MBTPS2	HP:0100308	Cerebral cortical hemiatrophy	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0003180	Flat acetabular roof	-	OMIM:615777
51360	MBTPS2	HP:0004482	Relative macrocephaly	-	OMIM:615777
51360	MBTPS2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
51360	MBTPS2	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
51360	MBTPS2	HP:0000822	Hypertension	1/13	OMIM:308205
51360	MBTPS2	HP:0000823	Delayed puberty	-	OMIM:131300
51360	MBTPS2	HP:0000894	Short clavicles	-	OMIM:615777
51360	MBTPS2	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
51360	MBTPS2	HP:0004552	Scarring alopecia of scalp	-	OMIM:308800
51360	MBTPS2	HP:0004552	Scarring alopecia of scalp	HP:0040282	ORPHA:2340
51360	MBTPS2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
51360	MBTPS2	HP:0005855	Multiple prenatal fractures	7/8	OMIM:301014
51360	MBTPS2	HP:0045059	Hyperkeratotic papule	HP:0040282	ORPHA:2340
51360	MBTPS2	HP:0045075	Sparse eyebrow	-	OMIM:308800
51360	MBTPS2	HP:0045075	Sparse eyebrow	HP:0040282	ORPHA:2340
51360	MBTPS2	HP:0045074	Thin eyebrow	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0004586	Biconcave vertebral bodies	1/1	OMIM:301014
51360	MBTPS2	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
51360	MBTPS2	HP:0100257	Ectrodactyly	4/13	OMIM:308205
51360	MBTPS2	HP:0100257	Ectrodactyly	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
51360	MBTPS2	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:300918
51360	MBTPS2	HP:0000989	Pruritus	HP:0040282	ORPHA:2340
51360	MBTPS2	HP:0000982	Palmoplantar keratoderma	-	OMIM:308800
51360	MBTPS2	HP:0000982	Palmoplantar keratoderma	-	OMIM:300918
51360	MBTPS2	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:659
51360	MBTPS2	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:2340
51360	MBTPS2	HP:0000958	Dry skin	-	OMIM:308800
51360	MBTPS2	HP:0000958	Dry skin	4/15	OMIM:308205
51360	MBTPS2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
51360	MBTPS2	HP:0000970	Anhidrosis	HP:0040281	ORPHA:659
51360	MBTPS2	HP:0000968	Ectodermal dysplasia	-	OMIM:308205
51360	MBTPS2	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0000964	Eczematoid dermatitis	1/13	OMIM:308205
51360	MBTPS2	HP:0000966	Hypohidrosis	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0000966	Hypohidrosis	-	OMIM:308205
51360	MBTPS2	HP:0000962	Hyperkeratosis	-	OMIM:300918
51360	MBTPS2	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0000962	Hyperkeratosis	1/13	OMIM:308205
51360	MBTPS2	HP:0000939	Osteoporosis	4/5	OMIM:259770
51360	MBTPS2	HP:0000938	Osteopenia	1/5	OMIM:259770
51360	MBTPS2	HP:0000938	Osteopenia	1/1	OMIM:612394
51360	MBTPS2	HP:0000938	Osteopenia	8/8	OMIM:301014
51360	MBTPS2	HP:0040163	Abnormal pelvis bone morphology	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0008070	Sparse hair	HP:0040281	ORPHA:2273
51360	MBTPS2	HP:0008070	Sparse hair	HP:0040281	ORPHA:659
51360	MBTPS2	HP:0008064	Ichthyosis	HP:0040281	ORPHA:2273
51360	MBTPS2	HP:0008064	Ichthyosis	HP:0040283	ORPHA:85284
51360	MBTPS2	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:659
51360	MBTPS2	HP:0040189	Scaling skin	-	OMIM:308205
51360	MBTPS2	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
51360	MBTPS2	HP:0000286	Epicanthus	1/7	OMIM:615777
51360	MBTPS2	HP:0000280	Coarse facial features	2/7	OMIM:615777
51360	MBTPS2	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:2273
51360	MBTPS2	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0001596	Alopecia	HP:0040281	ORPHA:2273
51360	MBTPS2	HP:0001596	Alopecia	HP:0040283	ORPHA:659
51360	MBTPS2	HP:0001596	Alopecia	1/13	OMIM:308205
51360	MBTPS2	HP:0001596	Alopecia	HP:0040281	ORPHA:85284
51360	MBTPS2	HP:0000272	Malar flattening	1/1	OMIM:612394
51360	MBTPS2	HP:0007773	Vitreoretinopathy	-	OMIM:259770
51360	MBTPS2	HP:0007759	Opacification of the corneal stroma	-	OMIM:308205
51360	MBTPS2	HP:0002827	Hip dislocation	3/7	OMIM:615777
51360	MBTPS2	HP:0002827	Hip dislocation	HP:0040283	OMIM:308205
51360	MBTPS2	HP:0002808	Kyphosis	1/5	OMIM:259770
51360	MBTPS2	HP:0002808	Kyphosis	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:85284
51360	MBTPS2	HP:0000252	Microcephaly	1/13	OMIM:308205
51360	MBTPS2	HP:0000252	Microcephaly	HP:0040281	ORPHA:85284
51360	MBTPS2	HP:0000252	Microcephaly	-	OMIM:259770
51360	MBTPS2	HP:0000252	Microcephaly	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0000252	Microcephaly	-	OMIM:615777
51360	MBTPS2	HP:0001581	Recurrent skin infections	1/13	OMIM:308205
51360	MBTPS2	HP:0001552	Barrel-shaped chest	-	OMIM:259770
51360	MBTPS2	HP:0001562	Oligohydramnios	-	OMIM:308205
51360	MBTPS2	HP:0002861	Melanoma	HP:0040283	ORPHA:659
51360	MBTPS2	HP:0002857	Genu valgum	-	OMIM:131300
51360	MBTPS2	HP:0001522	Death in infancy	1/13	OMIM:308205
51360	MBTPS2	HP:0001537	Umbilical hernia	-	OMIM:308205
51360	MBTPS2	HP:0001539	Omphalocele	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0001539	Omphalocele	1/13	OMIM:308205
51360	MBTPS2	HP:0001533	Slender build	-	OMIM:131300
51360	MBTPS2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0030054	Perifollicular fibrosis	-	OMIM:308800
51360	MBTPS2	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:85284
51360	MBTPS2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
51360	MBTPS2	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
51360	MBTPS2	HP:0001510	Growth delay	1/13	OMIM:308205
51360	MBTPS2	HP:0001510	Growth delay	HP:0040281	ORPHA:85284
51360	MBTPS2	HP:0001510	Growth delay	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0007807	Optic nerve compression	-	OMIM:131300
51360	MBTPS2	HP:0012368	Flat face	7/7	OMIM:615777
51360	MBTPS2	HP:0012368	Flat face	1/1	OMIM:612394
51360	MBTPS2	HP:0005254	Unilateral chest hypoplasia	-	OMIM:308205
51360	MBTPS2	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
51360	MBTPS2	HP:0007875	Congenital blindness	4/5	OMIM:259770
51360	MBTPS2	HP:0007862	Retinal calcification	1/5	OMIM:259770
51360	MBTPS2	HP:0002937	Hemivertebrae	HP:0040282	ORPHA:85284
51360	MBTPS2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
51360	MBTPS2	HP:0006488	Bowing of the arm	7/8	OMIM:301014
51360	MBTPS2	HP:0000365	Hearing impairment	HP:0040283	OMIM:308205
51360	MBTPS2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:85284
51360	MBTPS2	HP:0000365	Hearing impairment	0/8	OMIM:301014
51360	MBTPS2	HP:0000365	Hearing impairment	10/67	OMIM:131300
51360	MBTPS2	HP:0000369	Low-set ears	HP:0040281	ORPHA:85284
51360	MBTPS2	HP:0000369	Low-set ears	2/2	OMIM:612394
51360	MBTPS2	HP:0000343	Long philtrum	1/7	OMIM:615777
51360	MBTPS2	HP:0011001	Increased bone mineral density	-	OMIM:131300
51360	MBTPS2	HP:0002982	Tibial bowing	1/5	OMIM:259770
51360	MBTPS2	HP:0002979	Bowing of the legs	8/8	OMIM:301014
51360	MBTPS2	HP:0000311	Round face	2/7	OMIM:615777
51360	MBTPS2	HP:0025610	Posterior blepharitis	-	OMIM:300918
51360	MBTPS2	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
51360	MBTPS2	HP:0001629	Ventricular septal defect	-	OMIM:259770
51360	MBTPS2	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
51360	MBTPS2	HP:0002970	Genu varum	-	OMIM:615777
51360	MBTPS2	HP:0000307	Pointed chin	1/2	OMIM:612394
51360	MBTPS2	HP:0001631	Atrial septal defect	1/13	OMIM:308205
51360	MBTPS2	HP:0000303	Mandibular prognathia	-	OMIM:131300
51360	MBTPS2	HP:0007957	Corneal opacity	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0000499	Abnormal eyelash morphology	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0000498	Blepharitis	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0000498	Blepharitis	-	OMIM:308800
51360	MBTPS2	HP:0000498	Blepharitis	-	OMIM:300918
51360	MBTPS2	HP:0000498	Blepharitis	HP:0040283	ORPHA:2340
51360	MBTPS2	HP:0005343	Hypoplasia of the bladder	HP:0040281	ORPHA:85284
51360	MBTPS2	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
51360	MBTPS2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:659
51360	MBTPS2	HP:0000400	Macrotia	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
51360	MBTPS2	HP:0000483	Astigmatism	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0000495	Recurrent corneal erosions	-	OMIM:308205
51360	MBTPS2	HP:0000491	Keratitis	-	OMIM:308800
51360	MBTPS2	HP:0000491	Keratitis	-	OMIM:308205
51360	MBTPS2	HP:0000491	Keratitis	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0000463	Anteverted nares	1/1	OMIM:612394
51360	MBTPS2	HP:0012444	Brain atrophy	-	OMIM:308205
51360	MBTPS2	HP:0000470	Short neck	1/7	OMIM:615777
51360	MBTPS2	HP:0012443	Abnormal brain morphology	HP:0040281	ORPHA:85284
51360	MBTPS2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
51360	MBTPS2	HP:0001763	Pes planus	1/7	OMIM:615777
51360	MBTPS2	HP:0000453	Choanal atresia	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0000452	Choanal stenosis	1/13	OMIM:308205
51360	MBTPS2	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:85284
51360	MBTPS2	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
51360	MBTPS2	HP:0000411	Protruding ear	HP:0040281	ORPHA:85284
51360	MBTPS2	HP:0000518	Cataract	1/5	OMIM:259770
51360	MBTPS2	HP:0000518	Cataract	1/1	OMIM:612394
51360	MBTPS2	HP:0001840	Metatarsus adductus	-	OMIM:615777
51360	MBTPS2	HP:0000520	Proptosis	2/4	OMIM:131300
51360	MBTPS2	HP:0000520	Proptosis	7/7	OMIM:615777
51360	MBTPS2	HP:0000509	Conjunctivitis	-	OMIM:308800
51360	MBTPS2	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:2340
51360	MBTPS2	HP:0000508	Ptosis	1/13	OMIM:308205
51360	MBTPS2	HP:0001804	Hypoplastic fingernail	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0001812	Hyperconvex fingernails	HP:0040282	ORPHA:2273
51360	MBTPS2	HP:0000592	Blue sclerae	2/7	OMIM:615777
51360	MBTPS2	HP:0000592	Blue sclerae	1/8	OMIM:301014
51360	MBTPS2	HP:0000586	Shallow orbits	1/1	OMIM:612394
51360	MBTPS2	HP:0000561	Absent eyelashes	-	OMIM:308205
51360	MBTPS2	HP:0000554	Uveitis	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0000568	Microphthalmia	1/5	OMIM:259770
51360	MBTPS2	HP:0000568	Microphthalmia	HP:0040282	ORPHA:85284
51360	MBTPS2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
51360	MBTPS2	HP:0012514	Lower limb pain	4/4	OMIM:131300
51360	MBTPS2	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
51360	MBTPS2	HP:0000545	Myopia	HP:0040283	ORPHA:2273
51360	MBTPS2	HP:0000545	Myopia	1/1	OMIM:612394
51362	CDC40	HP:0410252	Persistently decreased total neutrophil count	2/9	OMIM:619302
51362	CDC40	HP:0010862	Delayed fine motor development	9/9	OMIM:619302
51362	CDC40	HP:0010864	Intellectual disability, severe	9/9	OMIM:619302
51362	CDC40	HP:0009879	Simplified gyral pattern	6/8	OMIM:619302
51362	CDC40	HP:0001276	Hypertonia	5/9	OMIM:619302
51362	CDC40	HP:0001274	Agenesis of corpus callosum	4/8	OMIM:619302
51362	CDC40	HP:0001252	Hypotonia	6/9	OMIM:619302
51362	CDC40	HP:0007359	Focal-onset seizure	2/9	OMIM:619302
51362	CDC40	HP:0002510	Spastic tetraplegia	8/9	OMIM:619302
51362	CDC40	HP:0001348	Brisk reflexes	8/9	OMIM:619302
51362	CDC40	HP:0001332	Dystonia	2/9	OMIM:619302
51362	CDC40	HP:0001338	Partial agenesis of the corpus callosum	4/8	OMIM:619302
51362	CDC40	HP:0000007	Autosomal recessive inheritance	-	OMIM:619302
51362	CDC40	HP:0001321	Cerebellar hypoplasia	9/9	OMIM:619302
51362	CDC40	HP:0002069	Bilateral tonic-clonic seizure	2/9	OMIM:619302
51362	CDC40	HP:0002188	Delayed CNS myelination	2/8	OMIM:619302
51362	CDC40	HP:0002194	Delayed gross motor development	9/9	OMIM:619302
51362	CDC40	HP:0003577	Congenital onset	9/9	OMIM:619302
51362	CDC40	HP:0002365	Hypoplasia of the brainstem	9/9	OMIM:619302
51362	CDC40	HP:0001903	Anemia	1/9	OMIM:619302
51362	CDC40	HP:0000238	Hydrocephalus	1/8	OMIM:619302
51362	CDC40	HP:0001522	Death in infancy	3/9	OMIM:619302
51362	CDC40	HP:0032794	Myoclonic seizure	2/9	OMIM:619302
51362	CDC40	HP:0012469	Infantile spasms	2/9	OMIM:619302
51362	CDC40	HP:0012434	Delayed early-childhood social milestone development	9/9	OMIM:619302
51362	CDC40	HP:0001873	Thrombocytopenia	2/9	OMIM:619302
51364	ZMYND10	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
51364	ZMYND10	HP:0001217	Clubbing	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0000007	Autosomal recessive inheritance	-	OMIM:615444
51364	ZMYND10	HP:0002643	Neonatal respiratory distress	34/41	OMIM:615444
51364	ZMYND10	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
51364	ZMYND10	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0031245	Productive cough	HP:0040282	ORPHA:244
51364	ZMYND10	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
51364	ZMYND10	HP:0100582	Nasal polyposis	1/10	OMIM:615444
51364	ZMYND10	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
51364	ZMYND10	HP:0002110	Bronchiectasis	20/31	OMIM:615444
51364	ZMYND10	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0008222	Female infertility	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0003593	Infantile onset	2/5	OMIM:615444
51364	ZMYND10	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
51364	ZMYND10	HP:0002205	Recurrent respiratory infections	2/5	OMIM:615444
51364	ZMYND10	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
51364	ZMYND10	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
51364	ZMYND10	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	-	OMIM:615444
51364	ZMYND10	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
51364	ZMYND10	HP:0003621	Juvenile onset	1/5	OMIM:615444
51364	ZMYND10	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0011463	Childhood onset	2/5	OMIM:615444
51364	ZMYND10	HP:0000789	Infertility	-	OMIM:615444
51364	ZMYND10	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0004469	Chronic bronchitis	-	OMIM:615444
51364	ZMYND10	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
51364	ZMYND10	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
51364	ZMYND10	HP:0030828	Wheezing	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0003251	Male infertility	HP:0040282	ORPHA:244
51364	ZMYND10	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0033036	Decreased nasal nitric oxide	12/12	OMIM:615444
51364	ZMYND10	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
51364	ZMYND10	HP:0012259	Absent inner and outer dynein arms	20/21	OMIM:615444
51364	ZMYND10	HP:0012265	Ciliary dyskinesia	-	OMIM:615444
51364	ZMYND10	HP:0012263	Immotile cilia	7/7	OMIM:615444
51364	ZMYND10	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
51364	ZMYND10	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
51364	ZMYND10	HP:0012207	Reduced sperm motility	-	OMIM:615444
51364	ZMYND10	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
51364	ZMYND10	HP:0012384	Rhinitis	4/5	OMIM:615444
51364	ZMYND10	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
51364	ZMYND10	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0001696	Situs inversus totalis	3/10	OMIM:615444
51364	ZMYND10	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
51364	ZMYND10	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0001651	Dextrocardia	1/10	OMIM:615444
51364	ZMYND10	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
51364	ZMYND10	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
51364	ZMYND10	HP:0000403	Recurrent otitis media	28/36	OMIM:615444
51364	ZMYND10	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
51364	ZMYND10	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
51364	ZMYND10	HP:0011108	Recurrent sinusitis	22/35	OMIM:615444
51364	ZMYND10	HP:0001746	Asplenia	HP:0040284	ORPHA:244
51364	ZMYND10	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
51364	ZMYND10	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
51364	ZMYND10	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
51364	ZMYND10	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
51364	ZMYND10	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
51371	POMP	HP:0001156	Brachydactyly	-	OMIM:618048
51371	POMP	HP:0410243	Abnormal circulating IgM concentration	2/2	OMIM:618048
51371	POMP	HP:0001250	Seizure	1/2	OMIM:618048
51371	POMP	HP:0010976	Decreased total B cell count	2/2	OMIM:618048
51371	POMP	HP:0025379	Anti-thyroid peroxidase antibody positivity	1/2	OMIM:618048
51371	POMP	HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas	-	OMIM:601952
51371	POMP	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	-	OMIM:601952
51371	POMP	HP:0007465	Honeycomb palmoplantar hyperkeratosis	-	OMIM:601952
51371	POMP	HP:0000007	Autosomal recessive inheritance	-	OMIM:601952
51371	POMP	HP:0000006	Autosomal dominant inheritance	-	OMIM:618048
51371	POMP	HP:0001482	Subcutaneous nodule	1/1	OMIM:618048
51371	POMP	HP:0031234	Neutrophilic infiltration of the skin	2/2	OMIM:618048
51371	POMP	HP:0002718	Recurrent bacterial infections	2/2	OMIM:618048
51371	POMP	HP:0002716	Lymphadenopathy	-	OMIM:618048
51371	POMP	HP:0100539	Periorbital edema	-	OMIM:618048
51371	POMP	HP:0003493	Antinuclear antibody positivity	3/3	OMIM:618048
51371	POMP	HP:0033221	Increased CD4:CD8 ratio	2/2	OMIM:618048
51371	POMP	HP:0003577	Congenital onset	1/1	OMIM:618048
51371	POMP	HP:0003565	Elevated erythrocyte sedimentation rate	1/1	OMIM:618048
51371	POMP	HP:0008404	Nail dystrophy	-	OMIM:601952
51371	POMP	HP:0032069	Anti-thyroglobulin antibody positivity	2/2	OMIM:618048
51371	POMP	HP:0001036	Parakeratosis	-	OMIM:601952
51371	POMP	HP:0009775	Amniotic constriction ring	-	OMIM:601952
51371	POMP	HP:0003623	Neonatal onset	2/2	OMIM:618048
51371	POMP	HP:0001945	Fever	1/1	OMIM:618048
51371	POMP	HP:0034156	Anti-beta-2-Glycoprotein I IgG antibody positivity	2/2	OMIM:618048
51371	POMP	HP:0009125	Lipodystrophy	1/1	OMIM:618048
51371	POMP	HP:0004429	Recurrent viral infections	2/2	OMIM:618048
51371	POMP	HP:0003237	Increased circulating IgG concentration	2/2	OMIM:618048
51371	POMP	HP:0003261	Increased circulating IgA concentration	2/2	OMIM:618048
51371	POMP	HP:0000988	Skin rash	2/2	OMIM:618048
51371	POMP	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:281201
51371	POMP	HP:0008064	Ichthyosis	-	OMIM:601952
51371	POMP	HP:0008064	Ichthyosis	HP:0040281	ORPHA:281201
51371	POMP	HP:0002829	Arthralgia	1/1	OMIM:618048
51371	POMP	HP:0030084	Clinodactyly	-	OMIM:618048
51371	POMP	HP:0025528	Annular cutaneous lesion	1/1	OMIM:618048
51371	POMP	HP:0001508	Failure to thrive	-	OMIM:618048
51371	POMP	HP:0001795	Hyperconvex nail	20/20	OMIM:601952
51371	POMP	HP:0011227	Elevated circulating C-reactive protein concentration	1/1	OMIM:618048
51371	POMP	HP:0030374	Decreased proportion of memory B cells	2/2	OMIM:618048
51371	POMP	HP:0001873	Thrombocytopenia	2/2	OMIM:618048
51399	TRAPPC4	HP:0001272	Cerebellar atrophy	-	OMIM:618741
51399	TRAPPC4	HP:0001285	Spastic tetraparesis	-	OMIM:618741
51399	TRAPPC4	HP:0001250	Seizure	7/7	OMIM:618741
51399	TRAPPC4	HP:0001263	Global developmental delay	7/7	OMIM:618741
51399	TRAPPC4	HP:0008872	Feeding difficulties in infancy	-	OMIM:618741
51399	TRAPPC4	HP:0000007	Autosomal recessive inheritance	-	OMIM:618741
51399	TRAPPC4	HP:0002650	Scoliosis	-	OMIM:618741
51399	TRAPPC4	HP:0002187	Intellectual disability, profound	7/7	OMIM:618741
51399	TRAPPC4	HP:0003623	Neonatal onset	7/7	OMIM:618741
51399	TRAPPC4	HP:0000252	Microcephaly	7/7	OMIM:618741
51399	TRAPPC4	HP:0000341	Narrow forehead	-	OMIM:618741
51399	TRAPPC4	HP:0000343	Long philtrum	-	OMIM:618741
51399	TRAPPC4	HP:0000407	Sensorineural hearing impairment	2/6	OMIM:618741
51399	TRAPPC4	HP:0012444	Brain atrophy	-	OMIM:618741
51412	ACTL6B	HP:0010864	Intellectual disability, severe	10/10	OMIM:618470
51412	ACTL6B	HP:0009882	Short distal phalanx of finger	4/9	OMIM:618470
51412	ACTL6B	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
51412	ACTL6B	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
51412	ACTL6B	HP:0001272	Cerebellar atrophy	1/10	OMIM:618468
51412	ACTL6B	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0001250	Seizure	HP:0040282	ORPHA:442835
51412	ACTL6B	HP:0001250	Seizure	11/11	OMIM:618468
51412	ACTL6B	HP:0001252	Hypotonia	5/6	OMIM:618470
51412	ACTL6B	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
51412	ACTL6B	HP:0001249	Intellectual disability	11/11	OMIM:618468
51412	ACTL6B	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
51412	ACTL6B	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
51412	ACTL6B	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0002540	Inability to walk	7/8	OMIM:618468
51412	ACTL6B	HP:0002540	Inability to walk	5/9	OMIM:618470
51412	ACTL6B	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
51412	ACTL6B	HP:0003819	Death in childhood	3/11	OMIM:618468
51412	ACTL6B	HP:0008872	Feeding difficulties in infancy	9/11	OMIM:618468
51412	ACTL6B	HP:0001344	Absent speech	8/8	OMIM:618468
51412	ACTL6B	HP:0001344	Absent speech	8/10	OMIM:618470
51412	ACTL6B	HP:0000007	Autosomal recessive inheritance	-	OMIM:618468
51412	ACTL6B	HP:0001337	Tremor	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0000006	Autosomal dominant inheritance	-	OMIM:618470
51412	ACTL6B	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0000154	Wide mouth	6/9	OMIM:618470
51412	ACTL6B	HP:0008936	Axial hypotonia	11/11	OMIM:618468
51412	ACTL6B	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0002069	Bilateral tonic-clonic seizure	1/9	OMIM:618470
51412	ACTL6B	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0002061	Lower limb spasticity	-	OMIM:618468
51412	ACTL6B	HP:0002079	Hypoplasia of the corpus callosum	6/10	OMIM:618468
51412	ACTL6B	HP:0002079	Hypoplasia of the corpus callosum	1/4	OMIM:618470
51412	ACTL6B	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0002059	Cerebral atrophy	3/10	OMIM:618468
51412	ACTL6B	HP:0002136	Broad-based gait	2/10	OMIM:618470
51412	ACTL6B	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
51412	ACTL6B	HP:0002188	Delayed CNS myelination	1/12	OMIM:618468
51412	ACTL6B	HP:0003593	Infantile onset	10/10	OMIM:618470
51412	ACTL6B	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0002283	Global brain atrophy	1/4	OMIM:618470
51412	ACTL6B	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
51412	ACTL6B	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0010841	Multifocal epileptiform discharges	7/9	OMIM:618468
51412	ACTL6B	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
51412	ACTL6B	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
51412	ACTL6B	HP:0000699	Diastema	1/10	OMIM:618470
51412	ACTL6B	HP:0011344	Severe global developmental delay	-	OMIM:618468
51412	ACTL6B	HP:0011344	Severe global developmental delay	10/10	OMIM:618470
51412	ACTL6B	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0004322	Short stature	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0006986	Upper limb spasticity	-	OMIM:618468
51412	ACTL6B	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
51412	ACTL6B	HP:0000717	Autism	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0000729	Autistic behavior	3/5	OMIM:618470
51412	ACTL6B	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
51412	ACTL6B	HP:0030891	Periventricular white matter hyperintensities	2/11	OMIM:618468
51412	ACTL6B	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0000252	Microcephaly	6/11	OMIM:618468
51412	ACTL6B	HP:0000252	Microcephaly	2/10	OMIM:618470
51412	ACTL6B	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
51412	ACTL6B	HP:0000337	Broad forehead	4/10	OMIM:618470
51412	ACTL6B	HP:0000348	High forehead	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0000316	Hypertelorism	6/10	OMIM:618470
51412	ACTL6B	HP:0012469	Infantile spasms	1/9	OMIM:618470
51412	ACTL6B	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0001792	Small nail	2/10	OMIM:618470
51412	ACTL6B	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0000414	Bulbous nose	10/10	OMIM:618470
51412	ACTL6B	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
51412	ACTL6B	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
51412	ACTL6B	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
51412	ACTL6B	HP:0011220	Prominent forehead	4/10	OMIM:618470
51412	ACTL6B	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
51422	PRKAG2	HP:0033568	Left axis deviation	1/5	OMIM:261740
51422	PRKAG2	HP:0010872	T-wave inversion	1/5	OMIM:261740
51422	PRKAG2	HP:0010851	EEG with burst suppression	1/5	OMIM:261740
51422	PRKAG2	HP:0001279	Syncope	1/8	OMIM:600858
51422	PRKAG2	HP:0001279	Syncope	14/26	OMIM:194200
51422	PRKAG2	HP:0001250	Seizure	1/5	OMIM:261740
51422	PRKAG2	HP:0012050	Anasarca	1/5	OMIM:261740
51422	PRKAG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:261740
51422	PRKAG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:600858
51422	PRKAG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
51422	PRKAG2	HP:0000006	Autosomal dominant inheritance	-	OMIM:194200
51422	PRKAG2	HP:0002615	Hypotension	2/5	OMIM:261740
51422	PRKAG2	HP:0000158	Macroglossia	2/5	OMIM:261740
51422	PRKAG2	HP:0000105	Enlarged kidney	2/5	OMIM:261740
51422	PRKAG2	HP:0002098	Respiratory distress	1/5	OMIM:261740
51422	PRKAG2	HP:0011713	Left bundle branch block	1/5	OMIM:600858
51422	PRKAG2	HP:0100598	Pulmonary edema	1/5	OMIM:261740
51422	PRKAG2	HP:0004757	Paroxysmal atrial fibrillation	15/34	OMIM:194200
51422	PRKAG2	HP:0002104	Apnea	1/5	OMIM:261740
51422	PRKAG2	HP:0004749	Atrial flutter	2/3	OMIM:194200
51422	PRKAG2	HP:0034532	Increased myocardial glycogen content	5/5	OMIM:261740
51422	PRKAG2	HP:0003577	Congenital onset	1/5	OMIM:261740
51422	PRKAG2	HP:0002202	Pleural effusion	2/5	OMIM:261740
51422	PRKAG2	HP:0200128	Biventricular hypertrophy	1/5	OMIM:261740
51422	PRKAG2	HP:0100749	Chest pain	1/8	OMIM:600858
51422	PRKAG2	HP:0011968	Feeding difficulties	1/5	OMIM:261740
51422	PRKAG2	HP:0003621	Juvenile onset	-	OMIM:194200
51422	PRKAG2	HP:0001962	Palpitations	-	OMIM:600858
51422	PRKAG2	HP:0001962	Palpitations	-	OMIM:194200
51422	PRKAG2	HP:0001998	Neonatal hypoglycemia	-	OMIM:261740
51422	PRKAG2	HP:0004309	Ventricular preexcitation	27/27	OMIM:194200
51422	PRKAG2	HP:0004309	Ventricular preexcitation	2/5	OMIM:600858
51422	PRKAG2	HP:0034197	Third trimester onset	1/5	OMIM:261740
51422	PRKAG2	HP:0011463	Childhood onset	3/3	OMIM:194200
51422	PRKAG2	HP:0011462	Young adult onset	-	OMIM:194200
51422	PRKAG2	HP:0003198	Myopathy	-	OMIM:261740
51422	PRKAG2	HP:0000961	Cyanosis	-	OMIM:261740
51422	PRKAG2	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
51422	PRKAG2	HP:0012250	ST segment depression	1/5	OMIM:261740
51422	PRKAG2	HP:0012251	ST segment elevation	2/5	OMIM:261740
51422	PRKAG2	HP:0005110	Atrial fibrillation	1/5	OMIM:600858
51422	PRKAG2	HP:0000238	Hydrocephalus	1/5	OMIM:261740
51422	PRKAG2	HP:0031318	Myofiber disarray	-	OMIM:600858
51422	PRKAG2	HP:0001541	Ascites	1/5	OMIM:261740
51422	PRKAG2	HP:0012398	Peripheral edema	1/5	OMIM:261740
51422	PRKAG2	HP:0005165	Shortened PR interval	-	OMIM:194200
51422	PRKAG2	HP:0005165	Shortened PR interval	2/5	OMIM:261740
51422	PRKAG2	HP:0005165	Shortened PR interval	1/1	OMIM:600858
51422	PRKAG2	HP:0001688	Sinus bradycardia	-	OMIM:600858
51422	PRKAG2	HP:0001698	Pericardial effusion	1/5	OMIM:261740
51422	PRKAG2	HP:0001670	Asymmetric septal hypertrophy	-	OMIM:600858
51422	PRKAG2	HP:0001664	Torsade de pointes	1/46	OMIM:115000
51422	PRKAG2	HP:0001678	Atrioventricular block	1/5	OMIM:600858
51422	PRKAG2	HP:0001645	Sudden cardiac death	-	OMIM:115000
51422	PRKAG2	HP:0001645	Sudden cardiac death	6/31	OMIM:194200
51422	PRKAG2	HP:0001663	Ventricular fibrillation	1/5	OMIM:261740
51422	PRKAG2	HP:0001663	Ventricular fibrillation	-	OMIM:115000
51422	PRKAG2	HP:0001662	Bradycardia	3/5	OMIM:261740
51422	PRKAG2	HP:0001623	Breech presentation	2/5	OMIM:261740
51422	PRKAG2	HP:0001640	Cardiomegaly	3/5	OMIM:261740
51422	PRKAG2	HP:0001639	Hypertrophic cardiomyopathy	6/8	OMIM:600858
51422	PRKAG2	HP:0001639	Hypertrophic cardiomyopathy	1/5	OMIM:261740
51422	PRKAG2	HP:0001635	Congestive heart failure	4/8	OMIM:600858
51422	PRKAG2	HP:0001635	Congestive heart failure	4/5	OMIM:261740
51422	PRKAG2	HP:0001638	Cardiomyopathy	-	OMIM:261740
51422	PRKAG2	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
51422	PRKAG2	HP:0031628	Aborted sudden cardiac death	3/8	OMIM:600858
51422	PRKAG2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
51422	PRKAG2	HP:0006684	Ventricular preexcitation with multiple accessory pathways	2/8	OMIM:194200
51422	PRKAG2	HP:0006677	Prolonged QRS complex	1/5	OMIM:261740
51422	PRKAG2	HP:0006677	Prolonged QRS complex	4/5	OMIM:600858
51422	PRKAG2	HP:0006677	Prolonged QRS complex	-	OMIM:194200
51422	PRKAG2	HP:0001716	Wolff-Parkinson-White syndrome	2/5	OMIM:600858
51422	PRKAG2	HP:0001716	Wolff-Parkinson-White syndrome	35/35	OMIM:194200
51422	PRKAG2	HP:0000518	Cataract	1/5	OMIM:261740
51428	DDX41	HP:0003829	Typified by incomplete penetrance	-	OMIM:616871
51428	DDX41	HP:0002665	Lymphoma	-	OMIM:616871
51428	DDX41	HP:0000006	Autosomal dominant inheritance	-	OMIM:616871
51428	DDX41	HP:0002725	Systemic lupus erythematosus	-	OMIM:616871
51428	DDX41	HP:0002099	Asthma	-	OMIM:616871
51428	DDX41	HP:0003581	Adult onset	-	OMIM:616871
51428	DDX41	HP:0004808	Acute myeloid leukemia	-	OMIM:616871
51428	DDX41	HP:0005528	Bone marrow hypocellularity	-	OMIM:616871
51428	DDX41	HP:0005505	Refractory anemia	-	OMIM:616871
51428	DDX41	HP:0000964	Eczematoid dermatitis	-	OMIM:616871
51428	DDX41	HP:0002863	Myelodysplasia	-	OMIM:616871
51428	DDX41	HP:0012311	Increased total monocyte count	-	OMIM:616871
51428	DDX41	HP:0031688	Erythroid dysplasia	-	OMIM:616871
51428	DDX41	HP:0001882	Decreased total leukocyte count	-	OMIM:616871
51434	ANAPC7	HP:0001270	Motor delay	-	OMIM:619699
51434	ANAPC7	HP:0001252	Hypotonia	8/11	OMIM:619699
51434	ANAPC7	HP:0001263	Global developmental delay	11/11	OMIM:619699
51434	ANAPC7	HP:0000007	Autosomal recessive inheritance	-	OMIM:619699
51434	ANAPC7	HP:0007687	Unilateral ptosis	1/11	OMIM:619699
51434	ANAPC7	HP:0008209	Premature ovarian insufficiency	1/7	OMIM:619699
51434	ANAPC7	HP:0003593	Infantile onset	-	OMIM:619699
51434	ANAPC7	HP:0000767	Pectus excavatum	7/11	OMIM:619699
51434	ANAPC7	HP:0000776	Congenital diaphragmatic hernia	1/11	OMIM:619699
51434	ANAPC7	HP:0000218	High palate	3/11	OMIM:619699
51434	ANAPC7	HP:0025516	Coronary-pulmonary artery fistula	1/11	OMIM:619699
51434	ANAPC7	HP:0000365	Hearing impairment	5/11	OMIM:619699
51434	ANAPC7	HP:0000347	Micrognathia	6/11	OMIM:619699
51434	ANAPC7	HP:0000316	Hypertelorism	6/11	OMIM:619699
51434	ANAPC7	HP:0001655	Patent foramen ovale	1/11	OMIM:619699
51434	ANAPC7	HP:0000402	Stenosis of the external auditory canal	1/11	OMIM:619699
51434	ANAPC7	HP:0000486	Strabismus	5/11	OMIM:619699
51473	DCDC2	HP:0003774	Stage 5 chronic kidney disease	1/2	OMIM:616217
51473	DCDC2	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:84081
51473	DCDC2	HP:0001256	Intellectual disability, mild	1/4	OMIM:617394
51473	DCDC2	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:84081
51473	DCDC2	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:84081
51473	DCDC2	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0000090	Nephronophthisis	1/2	OMIM:616217
51473	DCDC2	HP:0001396	Cholestasis	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0001396	Cholestasis	2/2	OMIM:616217
51473	DCDC2	HP:0001396	Cholestasis	4/4	OMIM:617394
51473	DCDC2	HP:0001399	Hepatic failure	4/4	OMIM:617394
51473	DCDC2	HP:0001395	Hepatic fibrosis	1/2	OMIM:616217
51473	DCDC2	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0001394	Cirrhosis	3/4	OMIM:617394
51473	DCDC2	HP:0001394	Cirrhosis	HP:0040283	ORPHA:84081
51473	DCDC2	HP:0000076	Vesicoureteral reflux	1/4	OMIM:617394
51473	DCDC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:610212
51473	DCDC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616217
51473	DCDC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617394
51473	DCDC2	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:84081
51473	DCDC2	HP:0002613	Biliary cirrhosis	-	OMIM:617394
51473	DCDC2	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:84081
51473	DCDC2	HP:0032622	Tubular luminal dilatation	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0000108	Renal corticomedullary cysts	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0001409	Portal hypertension	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0001409	Portal hypertension	4/4	OMIM:617394
51473	DCDC2	HP:0001408	Bile duct proliferation	6/11	OMIM:617394
51473	DCDC2	HP:0001408	Bile duct proliferation	1/2	OMIM:616217
51473	DCDC2	HP:0032581	Abnormal renal insterstitial morphology	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0030991	Sclerosing cholangitis	4/4	OMIM:617394
51473	DCDC2	HP:0030948	Elevated gamma-glutamyltransferase level	7/7	OMIM:617394
51473	DCDC2	HP:0002040	Esophageal varix	HP:0040283	ORPHA:84081
51473	DCDC2	HP:0004719	Hyperechogenic kidneys	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0004719	Hyperechogenic kidneys	1/2	OMIM:616217
51473	DCDC2	HP:0003593	Infantile onset	2/2	OMIM:616217
51473	DCDC2	HP:0003593	Infantile onset	5/7	OMIM:617394
51473	DCDC2	HP:0003577	Congenital onset	8/8	OMIM:610212
51473	DCDC2	HP:0003573	Increased total bilirubin	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0002240	Hepatomegaly	2/2	OMIM:616217
51473	DCDC2	HP:0002240	Hepatomegaly	1/7	OMIM:617394
51473	DCDC2	HP:0011985	Acholic stools	6/11	OMIM:617394
51473	DCDC2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:84081
51473	DCDC2	HP:0003676	Progressive	-	OMIM:617394
51473	DCDC2	HP:0020132	Thickening of the tubular basement membrane	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0003623	Neonatal onset	6/11	OMIM:617394
51473	DCDC2	HP:0005565	Reduced renal corticomedullary differentiation	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0001959	Polydipsia	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0001903	Anemia	HP:0040283	ORPHA:84081
51473	DCDC2	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:84081
51473	DCDC2	HP:0000713	Agitation	HP:0040283	ORPHA:84081
51473	DCDC2	HP:0034294	Ductal bile plugs	4/7	OMIM:617394
51473	DCDC2	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0012852	Hepatic bridging fibrosis	4/7	OMIM:617394
51473	DCDC2	HP:0000822	Hypertension	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0000989	Pruritus	5/7	OMIM:617394
51473	DCDC2	HP:0000952	Jaundice	7/7	OMIM:617394
51473	DCDC2	HP:0001541	Ascites	1/7	OMIM:617394
51473	DCDC2	HP:0001541	Ascites	HP:0040283	ORPHA:84081
51473	DCDC2	HP:0006580	Portal fibrosis	4/4	OMIM:617394
51473	DCDC2	HP:0006571	Reduced number of intrahepatic bile ducts	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0006563	Malformation of the hepatic ductal plate	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0006563	Malformation of the hepatic ductal plate	1/2	OMIM:616217
51473	DCDC2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0000365	Hearing impairment	0/4	OMIM:617394
51473	DCDC2	HP:0032948	Renal interstitial fibrosis	1/2	OMIM:616217
51473	DCDC2	HP:0000407	Sensorineural hearing impairment	8/8	OMIM:610212
51473	DCDC2	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:84081
51473	DCDC2	HP:0001744	Splenomegaly	2/2	OMIM:616217
51473	DCDC2	HP:0001744	Splenomegaly	5/7	OMIM:617394
51473	DCDC2	HP:0012591	Abnormal urinary electrolyte concentration	HP:0040282	ORPHA:84081
51473	DCDC2	HP:0012585	Renal atrophy	HP:0040283	ORPHA:84081
51475	CABP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614899
51475	CABP2	HP:0003577	Congenital onset	-	OMIM:614899
51475	CABP2	HP:0000365	Hearing impairment	-	OMIM:614899
51479	ANKFY1	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
51479	ANKFY1	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
51479	ANKFY1	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
51479	ANKFY1	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
51479	ANKFY1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
51479	ANKFY1	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
51479	ANKFY1	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
51479	ANKFY1	HP:0002315	Headache	HP:0040283	ORPHA:656
51479	ANKFY1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
51479	ANKFY1	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
51479	ANKFY1	HP:0001945	Fever	HP:0040283	ORPHA:656
51479	ANKFY1	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
51479	ANKFY1	HP:0000737	Irritability	HP:0040283	ORPHA:656
51479	ANKFY1	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
51479	ANKFY1	HP:0000969	Edema	HP:0040281	ORPHA:656
51479	ANKFY1	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
51479	ANKFY1	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
51501	HIKESHI	HP:0002415	Leukodystrophy	6/6	OMIM:616881
51501	HIKESHI	HP:0001276	Hypertonia	5/6	OMIM:616881
51501	HIKESHI	HP:0001251	Ataxia	1/6	OMIM:616881
51501	HIKESHI	HP:0001263	Global developmental delay	5/6	OMIM:616881
51501	HIKESHI	HP:0001257	Spasticity	3/6	OMIM:616881
51501	HIKESHI	HP:0002518	Abnormal periventricular white matter morphology	6/6	OMIM:616881
51501	HIKESHI	HP:0001347	Hyperreflexia	1/6	OMIM:616881
51501	HIKESHI	HP:0001344	Absent speech	1/6	OMIM:616881
51501	HIKESHI	HP:0000007	Autosomal recessive inheritance	-	OMIM:616881
51501	HIKESHI	HP:0008936	Axial hypotonia	1/6	OMIM:616881
51501	HIKESHI	HP:0002013	Vomiting	1/6	OMIM:616881
51501	HIKESHI	HP:0002061	Lower limb spasticity	3/6	OMIM:616881
51501	HIKESHI	HP:0002188	Delayed CNS myelination	6/6	OMIM:616881
51501	HIKESHI	HP:0002169	Clonus	-	OMIM:616881
51501	HIKESHI	HP:0002267	Exaggerated startle response	1/6	OMIM:616881
51501	HIKESHI	HP:0003593	Infantile onset	6/6	OMIM:616881
51501	HIKESHI	HP:0011968	Feeding difficulties	5/6	OMIM:616881
51501	HIKESHI	HP:0000639	Nystagmus	4/6	OMIM:616881
51501	HIKESHI	HP:0000648	Optic atrophy	2/6	OMIM:616881
51501	HIKESHI	HP:0000737	Irritability	3/6	OMIM:616881
51501	HIKESHI	HP:0004466	Delayed brainstem auditory evoked response conduction time	1/1	OMIM:616881
51501	HIKESHI	HP:0034392	Joint contracture	2/6	OMIM:616881
51501	HIKESHI	HP:0001508	Failure to thrive	1/6	OMIM:616881
51501	HIKESHI	HP:0005484	Secondary microcephaly	5/6	OMIM:616881
51501	HIKESHI	HP:0000505	Visual impairment	3/6	OMIM:616881
51506	UFC1	HP:0007325	Generalized dystonia	1/8	OMIM:618076
51506	UFC1	HP:0008551	Microtia	1/8	OMIM:618076
51506	UFC1	HP:0002421	Poor head control	-	OMIM:618076
51506	UFC1	HP:0001250	Seizure	4/8	OMIM:618076
51506	UFC1	HP:0001251	Ataxia	1/8	OMIM:618076
51506	UFC1	HP:0001249	Intellectual disability	-	OMIM:618076
51506	UFC1	HP:0001263	Global developmental delay	8/8	OMIM:618076
51506	UFC1	HP:0001257	Spasticity	2/8	OMIM:618076
51506	UFC1	HP:0002521	Hypsarrhythmia	2/8	OMIM:618076
51506	UFC1	HP:0002509	Limb hypertonia	8/8	OMIM:618076
51506	UFC1	HP:0000076	Vesicoureteral reflux	1/8	OMIM:618076
51506	UFC1	HP:0001347	Hyperreflexia	3/8	OMIM:618076
51506	UFC1	HP:0001344	Absent speech	1/8	OMIM:618076
51506	UFC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618076
51506	UFC1	HP:0001336	Myoclonus	1/8	OMIM:618076
51506	UFC1	HP:0002650	Scoliosis	1/8	OMIM:618076
51506	UFC1	HP:0001321	Cerebellar hypoplasia	0/6	OMIM:618076
51506	UFC1	HP:0000160	Narrow mouth	1/8	OMIM:618076
51506	UFC1	HP:0008936	Axial hypotonia	8/8	OMIM:618076
51506	UFC1	HP:0002705	High, narrow palate	1/8	OMIM:618076
51506	UFC1	HP:0002020	Gastroesophageal reflux	1/8	OMIM:618076
51506	UFC1	HP:0002013	Vomiting	1/8	OMIM:618076
51506	UFC1	HP:0011800	Midface retrusion	1/8	OMIM:618076
51506	UFC1	HP:0002080	Intention tremor	2/8	OMIM:618076
51506	UFC1	HP:0003487	Babinski sign	1/8	OMIM:618076
51506	UFC1	HP:0002188	Delayed CNS myelination	1/6	OMIM:618076
51506	UFC1	HP:0002169	Clonus	1/8	OMIM:618076
51506	UFC1	HP:0002179	Opisthotonus	1/8	OMIM:618076
51506	UFC1	HP:0003593	Infantile onset	8/8	OMIM:618076
51506	UFC1	HP:0002205	Recurrent respiratory infections	1/8	OMIM:618076
51506	UFC1	HP:0009748	Large earlobe	1/8	OMIM:618076
51506	UFC1	HP:0010665	Bilateral coxa valga	1/8	OMIM:618076
51506	UFC1	HP:0011968	Feeding difficulties	-	OMIM:618076
51506	UFC1	HP:0002395	Lower limb hyperreflexia	1/8	OMIM:618076
51506	UFC1	HP:0001007	Hirsutism	1/8	OMIM:618076
51506	UFC1	HP:0010804	Tented upper lip vermilion	1/8	OMIM:618076
51506	UFC1	HP:0000646	Amblyopia	1/8	OMIM:618076
51506	UFC1	HP:0000657	Oculomotor apraxia	1/8	OMIM:618076
51506	UFC1	HP:0000664	Synophrys	1/8	OMIM:618076
51506	UFC1	HP:0004322	Short stature	8/16	OMIM:618076
51506	UFC1	HP:0000737	Irritability	1/8	OMIM:618076
51506	UFC1	HP:0034295	Reduced cerebral white matter volume	1/8	OMIM:618076
51506	UFC1	HP:0000954	Single transverse palmar crease	1/8	OMIM:618076
51506	UFC1	HP:0000286	Epicanthus	1/8	OMIM:618076
51506	UFC1	HP:0025586	Hypertropia	1/8	OMIM:618076
51506	UFC1	HP:0000298	Mask-like facies	1/8	OMIM:618076
51506	UFC1	HP:0000293	Full cheeks	1/8	OMIM:618076
51506	UFC1	HP:0006380	Knee flexion contracture	1/8	OMIM:618076
51506	UFC1	HP:0001508	Failure to thrive	8/8	OMIM:618076
51506	UFC1	HP:0001510	Growth delay	8/8	OMIM:618076
51506	UFC1	HP:0001601	Laryngomalacia	1/8	OMIM:618076
51506	UFC1	HP:0000369	Low-set ears	1/8	OMIM:618076
51506	UFC1	HP:0000340	Sloping forehead	1/8	OMIM:618076
51506	UFC1	HP:0032794	Myoclonic seizure	1/8	OMIM:618076
51506	UFC1	HP:0000316	Hypertelorism	1/8	OMIM:618076
51506	UFC1	HP:0001643	Patent ductus arteriosus	1/8	OMIM:618076
51506	UFC1	HP:0001655	Patent foramen ovale	1/8	OMIM:618076
51506	UFC1	HP:0012469	Infantile spasms	1/8	OMIM:618076
51506	UFC1	HP:0000496	Abnormality of eye movement	-	OMIM:618076
51506	UFC1	HP:0000463	Anteverted nares	2/8	OMIM:618076
51506	UFC1	HP:0012450	Chronic constipation	1/8	OMIM:618076
51506	UFC1	HP:0001771	Achilles tendon contracture	1/8	OMIM:618076
51506	UFC1	HP:0000448	Prominent nose	1/8	OMIM:618076
51506	UFC1	HP:0005484	Secondary microcephaly	7/8	OMIM:618076
51506	UFC1	HP:0005469	Flat occiput	1/8	OMIM:618076
51506	UFC1	HP:0000527	Long eyelashes	1/8	OMIM:618076
51506	UFC1	HP:0001803	Nail pits	1/8	OMIM:618076
51506	UFC1	HP:0000565	Esotropia	2/8	OMIM:618076
51506	UFC1	HP:0000540	Hypermetropia	1/8	OMIM:618076
51520	LARS1	HP:0001290	Generalized hypotonia	-	OMIM:615438
51520	LARS1	HP:0100807	Long fingers	HP:0040283	OMIM:615438
51520	LARS1	HP:0001250	Seizure	-	OMIM:615438
51520	LARS1	HP:0001252	Hypotonia	-	OMIM:615438
51520	LARS1	HP:0001263	Global developmental delay	-	OMIM:615438
51520	LARS1	HP:0001397	Hepatic steatosis	-	OMIM:615438
51520	LARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615438
51520	LARS1	HP:0002007	Frontal bossing	HP:0040283	OMIM:615438
51520	LARS1	HP:0002194	Delayed gross motor development	HP:0040283	OMIM:615438
51520	LARS1	HP:0010511	Long toe	HP:0040283	OMIM:615438
51520	LARS1	HP:0002240	Hepatomegaly	-	OMIM:615438
51520	LARS1	HP:0001972	Macrocytic anemia	-	OMIM:615438
51520	LARS1	HP:0001903	Anemia	-	OMIM:615438
51520	LARS1	HP:0003128	Lactic acidosis	-	OMIM:615438
51520	LARS1	HP:0003256	Abnormality of the coagulation cascade	-	OMIM:615438
51520	LARS1	HP:0000293	Full cheeks	HP:0040283	OMIM:615438
51520	LARS1	HP:0000252	Microcephaly	-	OMIM:615438
51520	LARS1	HP:0001508	Failure to thrive	-	OMIM:615438
51520	LARS1	HP:0006554	Acute hepatic failure	-	OMIM:615438
51520	LARS1	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:615438
51520	LARS1	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:615438
51524	TMEM138	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2318
51524	TMEM138	HP:0002419	Molar tooth sign on MRI	12/12	OMIM:614465
51524	TMEM138	HP:0002419	Molar tooth sign on MRI	HP:0040281	ORPHA:2318
51524	TMEM138	HP:0001250	Seizure	HP:0040283	ORPHA:2318
51524	TMEM138	HP:0001252	Hypotonia	HP:0040281	ORPHA:2318
51524	TMEM138	HP:0001251	Ataxia	HP:0040281	ORPHA:2318
51524	TMEM138	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2318
51524	TMEM138	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2318
51524	TMEM138	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2318
51524	TMEM138	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:2318
51524	TMEM138	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:2318
51524	TMEM138	HP:0000090	Nephronophthisis	1/11	OMIM:614465
51524	TMEM138	HP:0000007	Autosomal recessive inheritance	-	OMIM:614465
51524	TMEM138	HP:0001305	Dandy-Walker malformation	1/12	OMIM:614465
51524	TMEM138	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:2318
51524	TMEM138	HP:0002650	Scoliosis	HP:0040283	ORPHA:2318
51524	TMEM138	HP:0002789	Tachypnea	HP:0040281	ORPHA:2318
51524	TMEM138	HP:0000112	Nephropathy	HP:0040281	ORPHA:2318
51524	TMEM138	HP:0000107	Renal cyst	2/11	OMIM:614465
51524	TMEM138	HP:0002084	Encephalocele	1/12	OMIM:614465
51524	TMEM138	HP:0002084	Encephalocele	HP:0040283	ORPHA:2318
51524	TMEM138	HP:0010442	Polydactyly	1/12	OMIM:614465
51524	TMEM138	HP:0002104	Apnea	HP:0040281	ORPHA:2318
51524	TMEM138	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:2318
51524	TMEM138	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:2318
51524	TMEM138	HP:0000639	Nystagmus	HP:0040282	ORPHA:2318
51524	TMEM138	HP:0000618	Blindness	HP:0040282	ORPHA:2318
51524	TMEM138	HP:0000612	Iris coloboma	HP:0040282	ORPHA:2318
51524	TMEM138	HP:0000657	Oculomotor apraxia	8/11	OMIM:614465
51524	TMEM138	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2318
51524	TMEM138	HP:0000729	Autistic behavior	HP:0040282	ORPHA:2318
51524	TMEM138	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2318
51524	TMEM138	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2318
51524	TMEM138	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:2318
51524	TMEM138	HP:0000276	Long face	HP:0040282	ORPHA:2318
51524	TMEM138	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2318
51524	TMEM138	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2318
51524	TMEM138	HP:0000316	Hypertelorism	1/12	OMIM:614465
51524	TMEM138	HP:0000486	Strabismus	HP:0040283	ORPHA:2318
51524	TMEM138	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2318
51524	TMEM138	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:2318
51524	TMEM138	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:2318
51524	TMEM138	HP:0000508	Ptosis	HP:0040282	ORPHA:2318
51524	TMEM138	HP:0000505	Visual impairment	HP:0040282	ORPHA:2318
51524	TMEM138	HP:0000589	Coloboma	6/11	OMIM:614465
51524	TMEM138	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:2318
51524	TMEM138	HP:0000556	Retinal dystrophy	3/11	OMIM:614465
51524	TMEM138	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:2318
51567	TDP2	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:404493
51567	TDP2	HP:0001290	Generalized hypotonia	-	OMIM:616949
51567	TDP2	HP:0001250	Seizure	HP:0040281	ORPHA:404493
51567	TDP2	HP:0001250	Seizure	-	OMIM:616949
51567	TDP2	HP:0001251	Ataxia	HP:0040282	ORPHA:404493
51567	TDP2	HP:0001251	Ataxia	-	OMIM:616949
51567	TDP2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:404493
51567	TDP2	HP:0001249	Intellectual disability	-	OMIM:616949
51567	TDP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616949
51567	TDP2	HP:0003388	Easy fatigability	-	OMIM:616949
51567	TDP2	HP:0100786	Hypersomnia	-	OMIM:616949
51567	TDP2	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:404493
51567	TDP2	HP:0011675	Arrhythmia	-	OMIM:616949
51567	TDP2	HP:0000252	Microcephaly	-	OMIM:616949
51567	TDP2	HP:0000248	Brachycephaly	HP:0040283	ORPHA:404493
51567	TDP2	HP:0002902	Hyponatremia	-	OMIM:616949
51567	TDP2	HP:0001875	Decreased total neutrophil count	-	OMIM:616949
51569	UFM1	HP:0001290	Generalized hypotonia	-	OMIM:617899
51569	UFM1	HP:0001272	Cerebellar atrophy	-	OMIM:617899
51569	UFM1	HP:0001250	Seizure	-	OMIM:617899
51569	UFM1	HP:0001249	Intellectual disability	-	OMIM:617899
51569	UFM1	HP:0001257	Spasticity	-	OMIM:617899
51569	UFM1	HP:0001332	Dystonia	-	OMIM:617899
51569	UFM1	HP:0001344	Absent speech	-	OMIM:617899
51569	UFM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617899
51569	UFM1	HP:0002093	Respiratory insufficiency	-	OMIM:617899
51569	UFM1	HP:0002059	Cerebral atrophy	-	OMIM:617899
51569	UFM1	HP:0011968	Feeding difficulties	-	OMIM:617899
51569	UFM1	HP:0000618	Blindness	HP:0040284	OMIM:617899
51569	UFM1	HP:0000252	Microcephaly	-	OMIM:617899
51569	UFM1	HP:0001510	Growth delay	-	OMIM:617899
51569	UFM1	HP:0000365	Hearing impairment	HP:0040284	OMIM:617899
51574	LARP7	HP:0010864	Intellectual disability, severe	9/9	OMIM:615071
51574	LARP7	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:319671
51574	LARP7	HP:0001250	Seizure	HP:0040283	ORPHA:319671
51574	LARP7	HP:0001263	Global developmental delay	-	OMIM:615071
51574	LARP7	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:319671
51574	LARP7	HP:0000007	Autosomal recessive inheritance	-	OMIM:615071
51574	LARP7	HP:0002650	Scoliosis	2/9	OMIM:615071
51574	LARP7	HP:0002650	Scoliosis	HP:0040283	ORPHA:319671
51574	LARP7	HP:0012171	Stereotypical hand wringing	HP:0040283	ORPHA:319671
51574	LARP7	HP:0000154	Wide mouth	HP:0040281	ORPHA:319671
51574	LARP7	HP:0000154	Wide mouth	9/9	OMIM:615071
51574	LARP7	HP:0010535	Sleep apnea	HP:0040283	ORPHA:319671
51574	LARP7	HP:0100738	Abnormal eating behavior	HP:0040282	ORPHA:319671
51574	LARP7	HP:0003510	Severe short stature	9/9	OMIM:615071
51574	LARP7	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:319671
51574	LARP7	HP:0001072	Thickened skin	HP:0040282	ORPHA:319671
51574	LARP7	HP:0000687	Widely spaced teeth	8/9	OMIM:615071
51574	LARP7	HP:0000687	Widely spaced teeth	HP:0040281	ORPHA:319671
51574	LARP7	HP:0012646	Retractile testis	1/5	OMIM:615071
51574	LARP7	HP:0004325	Decreased body weight	8/9	OMIM:615071
51574	LARP7	HP:0012745	Short palpebral fissure	7/9	OMIM:615071
51574	LARP7	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:319671
51574	LARP7	HP:0000739	Anxiety	HP:0040282	ORPHA:319671
51574	LARP7	HP:0000739	Anxiety	-	OMIM:615071
51574	LARP7	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:319671
51574	LARP7	HP:0000742	Self-mutilation	HP:0040283	ORPHA:319671
51574	LARP7	HP:0003100	Slender long bone	HP:0040283	ORPHA:319671
51574	LARP7	HP:0045075	Sparse eyebrow	HP:0040282	ORPHA:319671
51574	LARP7	HP:0000965	Cutis marmorata	HP:0040282	ORPHA:319671
51574	LARP7	HP:0045025	Narrow palpebral fissure	7/9	OMIM:615071
51574	LARP7	HP:0045025	Narrow palpebral fissure	HP:0040282	ORPHA:319671
51574	LARP7	HP:0040196	Mild microcephaly	HP:0040282	ORPHA:319671
51574	LARP7	HP:0000272	Malar flattening	HP:0040282	ORPHA:319671
51574	LARP7	HP:0000272	Malar flattening	8/9	OMIM:615071
51574	LARP7	HP:0000252	Microcephaly	4/9	OMIM:615071
51574	LARP7	HP:0000369	Low-set ears	6/9	OMIM:615071
51574	LARP7	HP:0000369	Low-set ears	HP:0040282	ORPHA:319671
51574	LARP7	HP:0000315	Abnormality of the orbital region	HP:0040283	ORPHA:319671
51574	LARP7	HP:0000322	Short philtrum	HP:0040282	ORPHA:319671
51574	LARP7	HP:0000322	Short philtrum	9/9	OMIM:615071
51574	LARP7	HP:0000325	Triangular face	HP:0040282	ORPHA:319671
51574	LARP7	HP:0000325	Triangular face	9/9	OMIM:615071
51574	LARP7	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:319671
51574	LARP7	HP:0005280	Depressed nasal bridge	-	OMIM:615071
51574	LARP7	HP:0000486	Strabismus	4/9	OMIM:615071
51574	LARP7	HP:0000486	Strabismus	HP:0040283	ORPHA:319671
51574	LARP7	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:319671
51574	LARP7	HP:0012471	Thick vermilion border	5/9	OMIM:615071
51574	LARP7	HP:0000490	Deeply set eye	HP:0040281	ORPHA:319671
51574	LARP7	HP:0000490	Deeply set eye	9/9	OMIM:615071
51574	LARP7	HP:0000445	Wide nose	9/9	OMIM:615071
51574	LARP7	HP:0000445	Wide nose	HP:0040281	ORPHA:319671
51574	LARP7	HP:0000431	Wide nasal bridge	-	OMIM:615071
51574	LARP7	HP:0011220	Prominent forehead	HP:0040283	ORPHA:319671
51592	TRIM33	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:2412
51592	TRIM33	HP:0001374	Congenital hip dislocation	HP:0040282	ORPHA:2412
51592	TRIM33	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:2412
51592	TRIM33	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2412
51592	TRIM33	HP:0000160	Narrow mouth	HP:0040282	ORPHA:2412
51592	TRIM33	HP:0000174	Abnormal palate morphology	HP:0040282	ORPHA:2412
51592	TRIM33	HP:0010759	Prominence of the premaxilla	HP:0040282	ORPHA:2412
51592	TRIM33	HP:0011328	Abnormal fontanelle morphology	HP:0040283	ORPHA:2412
51592	TRIM33	HP:0000286	Epicanthus	HP:0040282	ORPHA:2412
51592	TRIM33	HP:0000272	Malar flattening	HP:0040282	ORPHA:2412
51592	TRIM33	HP:0002815	Abnormality of the knee	HP:0040283	ORPHA:2412
51592	TRIM33	HP:0000364	Hearing abnormality	HP:0040282	ORPHA:2412
51592	TRIM33	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:2412
51592	TRIM33	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2412
51592	TRIM33	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:2412
51592	TRIM33	HP:0001702	Abnormal tricuspid valve morphology	HP:0040282	ORPHA:2412
51592	TRIM33	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2412
51592	TRIM33	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:2412
51592	TRIM33	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:2412
51592	TRIM33	HP:0004097	Deviation of finger	HP:0040282	ORPHA:2412
51594	NBAS	HP:0001156	Brachydactyly	34/34	OMIM:614800
51594	NBAS	HP:0002480	Hepatic encephalopathy	-	OMIM:616483
51594	NBAS	HP:0001159	Syndactyly	2/34	OMIM:614800
51594	NBAS	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
51594	NBAS	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
51594	NBAS	HP:0001293	Cranial nerve compression	-	OMIM:131300
51594	NBAS	HP:0001254	Lethargy	-	OMIM:616483
51594	NBAS	HP:0001256	Intellectual disability, mild	-	OMIM:259770
51594	NBAS	HP:0001250	Seizure	1/10	OMIM:616483
51594	NBAS	HP:0001252	Hypotonia	28/34	OMIM:614800
51594	NBAS	HP:0001252	Hypotonia	-	OMIM:259770
51594	NBAS	HP:0001252	Hypotonia	2/7	OMIM:615777
51594	NBAS	HP:0001249	Intellectual disability	5/7	OMIM:615777
51594	NBAS	HP:0001263	Global developmental delay	1/1	OMIM:612394
51594	NBAS	HP:0001263	Global developmental delay	-	OMIM:615777
51594	NBAS	HP:0002515	Waddling gait	54/102	OMIM:131300
51594	NBAS	HP:0001382	Joint hypermobility	-	OMIM:259770
51594	NBAS	HP:0001382	Joint hypermobility	-	OMIM:615777
51594	NBAS	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
51594	NBAS	HP:0002694	Sclerosis of skull base	-	OMIM:131300
51594	NBAS	HP:0008897	Postnatal growth retardation	-	OMIM:615777
51594	NBAS	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
51594	NBAS	HP:0008897	Postnatal growth retardation	34/34	OMIM:614800
51594	NBAS	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
51594	NBAS	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
51594	NBAS	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
51594	NBAS	HP:0001324	Muscle weakness	40/96	OMIM:131300
51594	NBAS	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
51594	NBAS	HP:0000007	Autosomal recessive inheritance	-	OMIM:614800
51594	NBAS	HP:0000007	Autosomal recessive inheritance	-	OMIM:616483
51594	NBAS	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
51594	NBAS	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
51594	NBAS	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
51594	NBAS	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
51594	NBAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
51594	NBAS	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
51594	NBAS	HP:0002650	Scoliosis	1/5	OMIM:259770
51594	NBAS	HP:0002650	Scoliosis	1/1	OMIM:612394
51594	NBAS	HP:0002650	Scoliosis	12/14	OMIM:131300
51594	NBAS	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
51594	NBAS	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
51594	NBAS	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
51594	NBAS	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
51594	NBAS	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
51594	NBAS	HP:0000175	Cleft palate	2/7	OMIM:615777
51594	NBAS	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
51594	NBAS	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
51594	NBAS	HP:0007663	Reduced visual acuity	-	OMIM:614800
51594	NBAS	HP:0002757	Recurrent fractures	4/5	OMIM:259770
51594	NBAS	HP:0002756	Pathologic fracture	-	OMIM:259770
51594	NBAS	HP:0002756	Pathologic fracture	1/1	OMIM:612394
51594	NBAS	HP:0002751	Kyphoscoliosis	-	OMIM:259770
51594	NBAS	HP:0002750	Delayed skeletal maturation	14/34	OMIM:614800
51594	NBAS	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
51594	NBAS	HP:0002013	Vomiting	-	OMIM:616483
51594	NBAS	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
51594	NBAS	HP:0002057	Prominent glabella	31/34	OMIM:614800
51594	NBAS	HP:0003388	Easy fatigability	36/76	OMIM:131300
51594	NBAS	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
51594	NBAS	HP:0008151	Prolonged prothrombin time	-	OMIM:616483
51594	NBAS	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
51594	NBAS	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
51594	NBAS	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
51594	NBAS	HP:0002164	Nail dysplasia	1/1	OMIM:612394
51594	NBAS	HP:0010557	Overlapping fingers	1/2	OMIM:612394
51594	NBAS	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
51594	NBAS	HP:0003593	Infantile onset	1/5	OMIM:259770
51594	NBAS	HP:0003593	Infantile onset	-	OMIM:616483
51594	NBAS	HP:0003577	Congenital onset	4/5	OMIM:259770
51594	NBAS	HP:0002213	Fine hair	25/34	OMIM:614800
51594	NBAS	HP:0002208	Coarse hair	1/1	OMIM:612394
51594	NBAS	HP:0010669	Hypoplasia of the zygomatic bone	33/34	OMIM:614800
51594	NBAS	HP:0003510	Severe short stature	7/7	OMIM:615777
51594	NBAS	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
51594	NBAS	HP:0025019	Arterial rupture	1/1	OMIM:612394
51594	NBAS	HP:0002315	Headache	-	OMIM:131300
51594	NBAS	HP:0004976	Knee dislocation	6/7	OMIM:615777
51594	NBAS	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
51594	NBAS	HP:0200068	Nonprogressive visual loss	-	OMIM:614800
51594	NBAS	HP:0009803	Short phalanx of finger	-	OMIM:615777
51594	NBAS	HP:0001089	Iris atrophy	-	OMIM:259770
51594	NBAS	HP:0009763	Limb pain	63/92	OMIM:131300
51594	NBAS	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
51594	NBAS	HP:0003621	Juvenile onset	8/19	OMIM:180100
51594	NBAS	HP:0003621	Juvenile onset	-	OMIM:131300
51594	NBAS	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
51594	NBAS	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
51594	NBAS	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
51594	NBAS	HP:6001056	Out-toeing	-	OMIM:131300
51594	NBAS	HP:0000651	Diplopia	-	OMIM:131300
51594	NBAS	HP:0000648	Optic atrophy	34/34	OMIM:614800
51594	NBAS	HP:0000618	Blindness	5/5	OMIM:259770
51594	NBAS	HP:0001943	Hypoglycemia	-	OMIM:616483
51594	NBAS	HP:0001956	Truncal obesity	2/7	OMIM:615777
51594	NBAS	HP:0001903	Anemia	HP:0040283	OMIM:131300
51594	NBAS	HP:0010049	Short metacarpal	-	OMIM:615777
51594	NBAS	HP:0010055	Broad hallux	26/34	OMIM:614800
51594	NBAS	HP:0000678	Dental crowding	-	OMIM:615777
51594	NBAS	HP:0000662	Nyctalopia	26/28	OMIM:180100
51594	NBAS	HP:0001987	Hyperammonemia	-	OMIM:616483
51594	NBAS	HP:0000670	Carious teeth	-	OMIM:131300
51594	NBAS	HP:0011304	Broad thumb	2/7	OMIM:615777
51594	NBAS	HP:0000668	Hypodontia	-	OMIM:615777
51594	NBAS	HP:0000667	Phthisis bulbi	-	OMIM:259770
51594	NBAS	HP:0000664	Synophrys	-	OMIM:615777
51594	NBAS	HP:0004322	Short stature	34/34	OMIM:614800
51594	NBAS	HP:0004322	Short stature	-	OMIM:259770
51594	NBAS	HP:0004396	Poor appetite	-	OMIM:131300
51594	NBAS	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
51594	NBAS	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
51594	NBAS	HP:0003016	Metaphyseal widening	-	OMIM:259770
51594	NBAS	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
51594	NBAS	HP:0003026	Short long bone	7/7	OMIM:615777
51594	NBAS	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
51594	NBAS	HP:0000767	Pectus excavatum	2/7	OMIM:615777
51594	NBAS	HP:0000768	Pectus carinatum	1/7	OMIM:615777
51594	NBAS	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
51594	NBAS	HP:0000750	Delayed speech and language development	-	OMIM:615777
51594	NBAS	HP:0011463	Childhood onset	3/19	OMIM:180100
51594	NBAS	HP:0011462	Young adult onset	8/19	OMIM:180100
51594	NBAS	HP:0011461	Fetal onset	7/7	OMIM:615777
51594	NBAS	HP:0011461	Fetal onset	2/2	OMIM:612394
51594	NBAS	HP:0011447	Hyposegmentation of neutrophil nuclei	22/22	OMIM:614800
51594	NBAS	HP:0000774	Narrow chest	2/7	OMIM:615777
51594	NBAS	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
51594	NBAS	HP:0003196	Short nose	1/1	OMIM:612394
51594	NBAS	HP:0000926	Platyspondyly	-	OMIM:259770
51594	NBAS	HP:0000926	Platyspondyly	1/7	OMIM:615777
51594	NBAS	HP:0000926	Platyspondyly	1/1	OMIM:612394
51594	NBAS	HP:0003180	Flat acetabular roof	-	OMIM:615777
51594	NBAS	HP:0004482	Relative macrocephaly	-	OMIM:615777
51594	NBAS	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
51594	NBAS	HP:0011516	Achromatopsia	-	OMIM:614800
51594	NBAS	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
51594	NBAS	HP:0000823	Delayed puberty	-	OMIM:131300
51594	NBAS	HP:0000894	Short clavicles	-	OMIM:615777
51594	NBAS	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
51594	NBAS	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
51594	NBAS	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
51594	NBAS	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
51594	NBAS	HP:0000973	Cutis laxa	34/34	OMIM:614800
51594	NBAS	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
51594	NBAS	HP:0000954	Single transverse palmar crease	5/34	OMIM:614800
51594	NBAS	HP:0000952	Jaundice	-	OMIM:616483
51594	NBAS	HP:0000939	Osteoporosis	4/5	OMIM:259770
51594	NBAS	HP:0000938	Osteopenia	1/5	OMIM:259770
51594	NBAS	HP:0000938	Osteopenia	1/1	OMIM:612394
51594	NBAS	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
51594	NBAS	HP:0000286	Epicanthus	22/34	OMIM:614800
51594	NBAS	HP:0000286	Epicanthus	1/7	OMIM:615777
51594	NBAS	HP:0000280	Coarse facial features	2/7	OMIM:615777
51594	NBAS	HP:0000276	Long face	33/34	OMIM:614800
51594	NBAS	HP:0000272	Malar flattening	1/1	OMIM:612394
51594	NBAS	HP:0007773	Vitreoretinopathy	-	OMIM:259770
51594	NBAS	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
51594	NBAS	HP:0002827	Hip dislocation	3/7	OMIM:615777
51594	NBAS	HP:0002808	Kyphosis	1/5	OMIM:259770
51594	NBAS	HP:0000252	Microcephaly	-	OMIM:259770
51594	NBAS	HP:0000252	Microcephaly	-	OMIM:615777
51594	NBAS	HP:0000248	Brachycephaly	30/34	OMIM:614800
51594	NBAS	HP:0001552	Barrel-shaped chest	-	OMIM:259770
51594	NBAS	HP:0000233	Thin vermilion border	28/34	OMIM:614800
51594	NBAS	HP:0002857	Genu valgum	-	OMIM:131300
51594	NBAS	HP:0001533	Slender build	-	OMIM:131300
51594	NBAS	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
51594	NBAS	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
51594	NBAS	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
51594	NBAS	HP:0007807	Optic nerve compression	-	OMIM:131300
51594	NBAS	HP:0012368	Flat face	7/7	OMIM:615777
51594	NBAS	HP:0012368	Flat face	1/1	OMIM:612394
51594	NBAS	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
51594	NBAS	HP:0006554	Acute hepatic failure	-	OMIM:616483
51594	NBAS	HP:0007875	Congenital blindness	4/5	OMIM:259770
51594	NBAS	HP:0007862	Retinal calcification	1/5	OMIM:259770
51594	NBAS	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
51594	NBAS	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:616483
51594	NBAS	HP:0000365	Hearing impairment	10/67	OMIM:131300
51594	NBAS	HP:0000369	Low-set ears	2/2	OMIM:612394
51594	NBAS	HP:0000341	Narrow forehead	31/34	OMIM:614800
51594	NBAS	HP:0000343	Long philtrum	28/34	OMIM:614800
51594	NBAS	HP:0000343	Long philtrum	1/7	OMIM:615777
51594	NBAS	HP:0011001	Increased bone mineral density	-	OMIM:131300
51594	NBAS	HP:0002982	Tibial bowing	1/5	OMIM:259770
51594	NBAS	HP:0002983	Micromelia	34/34	OMIM:614800
51594	NBAS	HP:0000316	Hypertelorism	5/34	OMIM:614800
51594	NBAS	HP:0000311	Round face	2/7	OMIM:615777
51594	NBAS	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
51594	NBAS	HP:0000324	Facial asymmetry	24/34	OMIM:614800
51594	NBAS	HP:0001629	Ventricular septal defect	-	OMIM:259770
51594	NBAS	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
51594	NBAS	HP:0001620	Abnormally high-pitched voice	32/34	OMIM:614800
51594	NBAS	HP:0002970	Genu varum	-	OMIM:615777
51594	NBAS	HP:0001638	Cardiomyopathy	1/10	OMIM:616483
51594	NBAS	HP:0000307	Pointed chin	1/2	OMIM:612394
51594	NBAS	HP:0000303	Mandibular prognathia	-	OMIM:131300
51594	NBAS	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
51594	NBAS	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
51594	NBAS	HP:0000486	Strabismus	9/34	OMIM:614800
51594	NBAS	HP:0000463	Anteverted nares	1/1	OMIM:612394
51594	NBAS	HP:0000470	Short neck	30/34	OMIM:614800
51594	NBAS	HP:0000470	Short neck	1/7	OMIM:615777
51594	NBAS	HP:0001769	Broad foot	HP:0040283	OMIM:615777
51594	NBAS	HP:0001763	Pes planus	1/7	OMIM:615777
51594	NBAS	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
51594	NBAS	HP:0000518	Cataract	1/5	OMIM:259770
51594	NBAS	HP:0000518	Cataract	1/1	OMIM:612394
51594	NBAS	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
51594	NBAS	HP:0001840	Metatarsus adductus	-	OMIM:615777
51594	NBAS	HP:0001852	Sandal gap	26/34	OMIM:614800
51594	NBAS	HP:0000520	Proptosis	2/4	OMIM:131300
51594	NBAS	HP:0000520	Proptosis	7/7	OMIM:615777
51594	NBAS	HP:0000520	Proptosis	31/34	OMIM:614800
51594	NBAS	HP:0000575	Scotoma	5/18	OMIM:180100
51594	NBAS	HP:0000592	Blue sclerae	2/7	OMIM:615777
51594	NBAS	HP:0000586	Shallow orbits	1/1	OMIM:612394
51594	NBAS	HP:0000574	Thick eyebrow	24/34	OMIM:614800
51594	NBAS	HP:0000568	Microphthalmia	1/5	OMIM:259770
51594	NBAS	HP:0000540	Hypermetropia	3/34	OMIM:614800
51594	NBAS	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
51594	NBAS	HP:0012514	Lower limb pain	4/4	OMIM:131300
51594	NBAS	HP:0000543	Optic disc pallor	1/1	OMIM:180100
51594	NBAS	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
51594	NBAS	HP:0000545	Myopia	-	OMIM:180100
51594	NBAS	HP:0000545	Myopia	12/34	OMIM:614800
51594	NBAS	HP:0000545	Myopia	1/1	OMIM:612394
51601	LIPT1	HP:0001272	Cerebellar atrophy	1/1	OMIM:616299
51601	LIPT1	HP:0001285	Spastic tetraparesis	1/1	OMIM:616299
51601	LIPT1	HP:0001252	Hypotonia	1/1	OMIM:616299
51601	LIPT1	HP:0001263	Global developmental delay	-	OMIM:616299
51601	LIPT1	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:616299
51601	LIPT1	HP:0025376	Hyperglutaminuria	1/1	OMIM:616299
51601	LIPT1	HP:0001332	Dystonia	1/1	OMIM:616299
51601	LIPT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616299
51601	LIPT1	HP:0008936	Axial hypotonia	-	OMIM:616299
51601	LIPT1	HP:0001410	Decreased liver function	-	OMIM:616299
51601	LIPT1	HP:0002092	Pulmonary arterial hypertension	-	OMIM:616299
51601	LIPT1	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:616299
51601	LIPT1	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:616299
51601	LIPT1	HP:0002119	Ventriculomegaly	1/1	OMIM:616299
51601	LIPT1	HP:0002188	Delayed CNS myelination	1/1	OMIM:616299
51601	LIPT1	HP:0003593	Infantile onset	1/1	OMIM:616299
51601	LIPT1	HP:0003573	Increased total bilirubin	-	OMIM:616299
51601	LIPT1	HP:0008358	Hyperprolinemia	1/1	OMIM:616299
51601	LIPT1	HP:0020078	Alaninuria	1/1	OMIM:616299
51601	LIPT1	HP:0002376	Developmental regression	1/1	OMIM:616299
51601	LIPT1	HP:0003648	Lacticaciduria	1/1	OMIM:616299
51601	LIPT1	HP:0003128	Lactic acidosis	-	OMIM:616299
51601	LIPT1	HP:0003217	Hyperglutaminemia	1/1	OMIM:616299
51601	LIPT1	HP:0001522	Death in infancy	-	OMIM:616299
51601	LIPT1	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:616299
51601	LIPT1	HP:0001662	Bradycardia	-	OMIM:616299
51604	PIGT	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:369837
51604	PIGT	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:369837
51604	PIGT	HP:0001290	Generalized hypotonia	-	OMIM:615398
51604	PIGT	HP:0001272	Cerebellar atrophy	2/4	OMIM:615398
51604	PIGT	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:369837
51604	PIGT	HP:0001250	Seizure	-	OMIM:615398
51604	PIGT	HP:0001252	Hypotonia	4/4	OMIM:615398
51604	PIGT	HP:0001252	Hypotonia	HP:0040281	ORPHA:369837
51604	PIGT	HP:0001251	Ataxia	-	OMIM:615398
51604	PIGT	HP:0001249	Intellectual disability	4/4	OMIM:615398
51604	PIGT	HP:0001263	Global developmental delay	-	OMIM:615398
51604	PIGT	HP:0008676	Congenital megaureter	HP:0040282	ORPHA:369837
51604	PIGT	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:369837
51604	PIGT	HP:0000072	Hydroureter	3/4	OMIM:615398
51604	PIGT	HP:0000071	Ureteral stenosis	-	OMIM:615398
51604	PIGT	HP:0025330	Downgaze palsy	HP:0040283	ORPHA:369837
51604	PIGT	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:369837
51604	PIGT	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:369837
51604	PIGT	HP:0000007	Autosomal recessive inheritance	-	OMIM:615398
51604	PIGT	HP:0000006	Autosomal dominant inheritance	-	OMIM:615399
51604	PIGT	HP:0002650	Scoliosis	2/4	OMIM:615398
51604	PIGT	HP:0002650	Scoliosis	HP:0040282	ORPHA:369837
51604	PIGT	HP:0001321	Cerebellar hypoplasia	-	OMIM:615398
51604	PIGT	HP:0000194	Open mouth	-	OMIM:615398
51604	PIGT	HP:0000164	Abnormality of the dentition	-	OMIM:615398
51604	PIGT	HP:0002705	High, narrow palate	HP:0040282	ORPHA:369837
51604	PIGT	HP:0000121	Nephrocalcinosis	-	OMIM:615398
51604	PIGT	HP:0000121	Nephrocalcinosis	HP:0040282	ORPHA:369837
51604	PIGT	HP:0000110	Renal dysplasia	HP:0040283	ORPHA:369837
51604	PIGT	HP:0001442	Typified by somatic mosaicism	-	OMIM:615399
51604	PIGT	HP:0000107	Renal cyst	1/4	OMIM:615398
51604	PIGT	HP:0000107	Renal cyst	HP:0040283	ORPHA:369837
51604	PIGT	HP:0002750	Delayed skeletal maturation	4/4	OMIM:615398
51604	PIGT	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:369837
51604	PIGT	HP:0002714	Downturned corners of mouth	-	OMIM:615398
51604	PIGT	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:369837
51604	PIGT	HP:0002720	Decreased circulating IgA concentration	HP:0040283	ORPHA:369837
51604	PIGT	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:369837
51604	PIGT	HP:0002027	Abdominal pain	1/1	OMIM:615399
51604	PIGT	HP:0002002	Deep philtrum	-	OMIM:615398
51604	PIGT	HP:0002014	Diarrhea	1/1	OMIM:615399
51604	PIGT	HP:0002094	Dyspnea	1/1	OMIM:615399
51604	PIGT	HP:0002069	Bilateral tonic-clonic seizure	1/4	OMIM:615398
51604	PIGT	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:369837
51604	PIGT	HP:0002059	Cerebral atrophy	2/4	OMIM:615398
51604	PIGT	HP:0002155	Hypertriglyceridemia	HP:0040283	ORPHA:369837
51604	PIGT	HP:0003487	Babinski sign	-	OMIM:615398
51604	PIGT	HP:0002150	Hypercalciuria	-	OMIM:615398
51604	PIGT	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:369837
51604	PIGT	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:369837
51604	PIGT	HP:0002121	Generalized non-motor (absence) seizure	1/4	OMIM:615398
51604	PIGT	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:369837
51604	PIGT	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:369837
51604	PIGT	HP:0010536	Central sleep apnea	HP:0040283	ORPHA:369837
51604	PIGT	HP:0011842	Abnormal skeletal morphology	HP:0040281	ORPHA:369837
51604	PIGT	HP:0003596	Middle age onset	1/1	OMIM:615399
51604	PIGT	HP:0002263	Exaggerated cupid's bow	HP:0040283	ORPHA:369837
51604	PIGT	HP:0003593	Infantile onset	-	OMIM:615398
51604	PIGT	HP:0003577	Congenital onset	4/4	OMIM:615398
51604	PIGT	HP:0100704	Cerebral visual impairment	4/4	OMIM:615398
51604	PIGT	HP:0100704	Cerebral visual impairment	HP:0040281	ORPHA:369837
51604	PIGT	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:369837
51604	PIGT	HP:0004818	Paroxysmal nocturnal hemoglobinuria	1/1	OMIM:615399
51604	PIGT	HP:0002376	Developmental regression	-	OMIM:615398
51604	PIGT	HP:0002315	Headache	1/1	OMIM:615399
51604	PIGT	HP:0010841	Multifocal epileptiform discharges	3/4	OMIM:615398
51604	PIGT	HP:0010841	Multifocal epileptiform discharges	HP:0040283	ORPHA:369837
51604	PIGT	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:369837
51604	PIGT	HP:0010804	Tented upper lip vermilion	HP:0040283	ORPHA:369837
51604	PIGT	HP:0009824	Upper limb undergrowth	HP:0040282	ORPHA:369837
51604	PIGT	HP:0000639	Nystagmus	4/4	OMIM:615398
51604	PIGT	HP:0000639	Nystagmus	HP:0040281	ORPHA:369837
51604	PIGT	HP:0011330	Metopic synostosis	1/2	OMIM:615398
51604	PIGT	HP:0006961	Jerky head movements	HP:0040283	ORPHA:369837
51604	PIGT	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:369837
51604	PIGT	HP:0003022	Hypoplasia of the ulna	-	OMIM:615398
51604	PIGT	HP:0000767	Pectus excavatum	1/4	OMIM:615398
51604	PIGT	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:369837
51604	PIGT	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:369837
51604	PIGT	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:369837
51604	PIGT	HP:0011448	Ankle clonus	-	OMIM:615398
51604	PIGT	HP:0004443	Lambdoidal craniosynostosis	1/2	OMIM:615398
51604	PIGT	HP:0003100	Slender long bone	HP:0040281	ORPHA:369837
51604	PIGT	HP:0003196	Short nose	-	OMIM:615398
51604	PIGT	HP:0003186	Inverted nipples	2/4	OMIM:615398
51604	PIGT	HP:0003186	Inverted nipples	HP:0040283	ORPHA:369837
51604	PIGT	HP:0000829	Hypoparathyroidism	HP:0040283	ORPHA:369837
51604	PIGT	HP:0000826	Precocious puberty	HP:0040283	ORPHA:369837
51604	PIGT	HP:0030856	Posterior staphyloma	HP:0040283	ORPHA:369837
51604	PIGT	HP:0003282	Decreased circulating alkaline phosphatase activity	HP:0040282	ORPHA:369837
51604	PIGT	HP:0000939	Osteoporosis	-	OMIM:615398
51604	PIGT	HP:0000938	Osteopenia	-	OMIM:615398
51604	PIGT	HP:0000938	Osteopenia	HP:0040281	ORPHA:369837
51604	PIGT	HP:0000256	Macrocephaly	-	OMIM:615398
51604	PIGT	HP:0000272	Malar flattening	HP:0040283	ORPHA:369837
51604	PIGT	HP:0002829	Arthralgia	1/1	OMIM:615399
51604	PIGT	HP:0000248	Brachycephaly	-	OMIM:615398
51604	PIGT	HP:0000248	Brachycephaly	HP:0040281	ORPHA:369837
51604	PIGT	HP:0000218	High palate	-	OMIM:615398
51604	PIGT	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:369837
51604	PIGT	HP:0002850	Decreased circulating total IgM	HP:0040283	ORPHA:369837
51604	PIGT	HP:0001520	Large for gestational age	-	OMIM:615398
51604	PIGT	HP:0001513	Obesity	HP:0040283	ORPHA:369837
51604	PIGT	HP:0012378	Fatigue	1/1	OMIM:615399
51604	PIGT	HP:0012373	Abnormal eye physiology	HP:0040282	ORPHA:369837
51604	PIGT	HP:0006480	Premature loss of teeth	HP:0040283	ORPHA:369837
51604	PIGT	HP:0000365	Hearing impairment	HP:0040282	ORPHA:369837
51604	PIGT	HP:0000369	Low-set ears	-	OMIM:615398
51604	PIGT	HP:0000369	Low-set ears	HP:0040283	ORPHA:369837
51604	PIGT	HP:0000341	Narrow forehead	-	OMIM:615398
51604	PIGT	HP:0000341	Narrow forehead	HP:0040281	ORPHA:369837
51604	PIGT	HP:0000343	Long philtrum	-	OMIM:615398
51604	PIGT	HP:0000343	Long philtrum	HP:0040281	ORPHA:369837
51604	PIGT	HP:0000348	High forehead	-	OMIM:615398
51604	PIGT	HP:0000348	High forehead	HP:0040281	ORPHA:369837
51604	PIGT	HP:0000347	Micrognathia	HP:0040283	ORPHA:369837
51604	PIGT	HP:0032794	Myoclonic seizure	2/4	OMIM:615398
51604	PIGT	HP:0001643	Patent ductus arteriosus	-	OMIM:615398
51604	PIGT	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:369837
51604	PIGT	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:369837
51604	PIGT	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:369837
51604	PIGT	HP:0011199	EEG with generalized sharp slow waves	HP:0040283	ORPHA:369837
51604	PIGT	HP:0001723	Restrictive cardiomyopathy	-	OMIM:615398
51604	PIGT	HP:0001723	Restrictive cardiomyopathy	HP:0040283	ORPHA:369837
51604	PIGT	HP:0005280	Depressed nasal bridge	-	OMIM:615398
51604	PIGT	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:369837
51604	PIGT	HP:0000483	Astigmatism	HP:0040283	ORPHA:369837
51604	PIGT	HP:0000486	Strabismus	4/4	OMIM:615398
51604	PIGT	HP:0000486	Strabismus	HP:0040281	ORPHA:369837
51604	PIGT	HP:0000496	Abnormality of eye movement	-	OMIM:615398
51604	PIGT	HP:0000463	Anteverted nares	-	OMIM:615398
51604	PIGT	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:369837
51604	PIGT	HP:0000505	Visual impairment	-	OMIM:615398
51604	PIGT	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:369837
51604	PIGT	HP:0000565	Esotropia	-	OMIM:615398
51604	PIGT	HP:0000540	Hypermetropia	4/4	OMIM:615398
51604	PIGT	HP:0000540	Hypermetropia	HP:0040282	ORPHA:369837
51604	PIGT	HP:0001878	Hemolytic anemia	1/1	OMIM:615399
51604	PIGT	HP:0000545	Myopia	HP:0040283	ORPHA:369837
51608	GET4	HP:0001274	Agenesis of corpus callosum	1/1	OMIM:620200
51608	GET4	HP:0001252	Hypotonia	1/1	OMIM:620200
51608	GET4	HP:0001263	Global developmental delay	1/1	OMIM:620200
51608	GET4	HP:0007366	Atrophy/Degeneration affecting the brainstem	1/1	OMIM:620200
51608	GET4	HP:0025336	Delayed ability to sit	1/1	OMIM:620200
51608	GET4	HP:0033725	Thin corpus callosum	1/1	OMIM:620200
51608	GET4	HP:0001344	Absent speech	1/1	OMIM:620200
51608	GET4	HP:0000007	Autosomal recessive inheritance	-	OMIM:620200
51608	GET4	HP:0002650	Scoliosis	1/1	OMIM:620200
51608	GET4	HP:0002750	Delayed skeletal maturation	1/1	OMIM:620200
51608	GET4	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:620200
51608	GET4	HP:0002120	Cerebral cortical atrophy	1/1	OMIM:620200
51608	GET4	HP:0002119	Ventriculomegaly	1/1	OMIM:620200
51608	GET4	HP:0002133	Status epilepticus	1/1	OMIM:620200
51608	GET4	HP:0002188	Delayed CNS myelination	1/1	OMIM:620200
51608	GET4	HP:0003593	Infantile onset	1/1	OMIM:620200
51608	GET4	HP:0007141	Sensorimotor neuropathy	1/1	OMIM:620200
51608	GET4	HP:0004395	Malnutrition	1/1	OMIM:620200
51608	GET4	HP:0031936	Delayed ability to walk	1/1	OMIM:620200
51608	GET4	HP:0004349	Reduced bone mineral density	1/1	OMIM:620200
51608	GET4	HP:0000252	Microcephaly	1/1	OMIM:620200
51608	GET4	HP:0000248	Brachycephaly	1/1	OMIM:620200
51608	GET4	HP:0030043	Hip subluxation	1/1	OMIM:620200
51608	GET4	HP:0000341	Narrow forehead	1/1	OMIM:620200
51608	GET4	HP:0012301	Type II transferrin isoform profile	1/1	OMIM:620200
51611	DPH5	HP:0001182	Tapered finger	4/4	OMIM:620070
51611	DPH5	HP:0001252	Hypotonia	4/5	OMIM:620070
51611	DPH5	HP:0001263	Global developmental delay	4/4	OMIM:620070
51611	DPH5	HP:0002510	Spastic tetraplegia	1/5	OMIM:620070
51611	DPH5	HP:0002509	Limb hypertonia	1/5	OMIM:620070
51611	DPH5	HP:0000020	Urinary incontinence	2/4	OMIM:620070
51611	DPH5	HP:0001344	Absent speech	4/4	OMIM:620070
51611	DPH5	HP:0000006	Autosomal dominant inheritance	-	OMIM:620070
51611	DPH5	HP:0001320	Cerebellar vermis hypoplasia	1/5	OMIM:620070
51611	DPH5	HP:0002714	Downturned corners of mouth	3/5	OMIM:620070
51611	DPH5	HP:0002020	Gastroesophageal reflux	1/5	OMIM:620070
51611	DPH5	HP:0011800	Midface retrusion	2/5	OMIM:620070
51611	DPH5	HP:0002069	Bilateral tonic-clonic seizure	2/5	OMIM:620070
51611	DPH5	HP:0002187	Intellectual disability, profound	4/4	OMIM:620070
51611	DPH5	HP:0003577	Congenital onset	2/5	OMIM:620070
51611	DPH5	HP:0002280	Enlarged cisterna magna	1/5	OMIM:620070
51611	DPH5	HP:0011968	Feeding difficulties	4/4	OMIM:620070
51611	DPH5	HP:0002360	Sleep abnormality	1/5	OMIM:620070
51611	DPH5	HP:0004942	Aortic aneurysm	2/5	OMIM:620070
51611	DPH5	HP:0009085	Alveolar ridge overgrowth	1/5	OMIM:620070
51611	DPH5	HP:0000637	Long palpebral fissure	2/5	OMIM:620070
51611	DPH5	HP:0000653	Sparse eyelashes	1/5	OMIM:620070
51611	DPH5	HP:0000670	Carious teeth	2/5	OMIM:620070
51611	DPH5	HP:0004322	Short stature	4/4	OMIM:620070
51611	DPH5	HP:0030674	Antenatal onset	3/5	OMIM:620070
51611	DPH5	HP:0100021	Cerebral palsy	2/5	OMIM:620070
51611	DPH5	HP:0045075	Sparse eyebrow	4/5	OMIM:620070
51611	DPH5	HP:0011625	Multiple muscular ventricular septal defects	1/5	OMIM:620070
51611	DPH5	HP:0034353	Appendicular spasticity	1/5	OMIM:620070
51611	DPH5	HP:0033044	Motor regression	1/5	OMIM:620070
51611	DPH5	HP:0000286	Epicanthus	4/5	OMIM:620070
51611	DPH5	HP:0000218	High palate	1/5	OMIM:620070
51611	DPH5	HP:0001561	Polyhydramnios	1/5	OMIM:620070
51611	DPH5	HP:0001558	Decreased fetal movement	2/5	OMIM:620070
51611	DPH5	HP:0001522	Death in infancy	1/5	OMIM:620070
51611	DPH5	HP:0002870	Obstructive sleep apnea	1/5	OMIM:620070
51611	DPH5	HP:0011003	High myopia	1/5	OMIM:620070
51611	DPH5	HP:0001698	Pericardial effusion	1/5	OMIM:620070
51611	DPH5	HP:0000341	Narrow forehead	3/5	OMIM:620070
51611	DPH5	HP:0000337	Broad forehead	3/5	OMIM:620070
51611	DPH5	HP:0000348	High forehead	1/5	OMIM:620070
51611	DPH5	HP:0000347	Micrognathia	1/5	OMIM:620070
51611	DPH5	HP:0032794	Myoclonic seizure	1/5	OMIM:620070
51611	DPH5	HP:0001631	Atrial septal defect	1/5	OMIM:620070
51611	DPH5	HP:0000490	Deeply set eye	2/5	OMIM:620070
51611	DPH5	HP:0012444	Brain atrophy	1/5	OMIM:620070
51611	DPH5	HP:0001763	Pes planus	1/4	OMIM:620070
51611	DPH5	HP:0000431	Wide nasal bridge	3/5	OMIM:620070
51611	DPH5	HP:0001838	Rocker bottom foot	1/4	OMIM:620070
51611	DPH5	HP:0000582	Upslanted palpebral fissure	2/5	OMIM:620070
51611	DPH5	HP:0011220	Prominent forehead	1/5	OMIM:620070
51621	KLF13	HP:0001156	Brachydactyly	3/19	OMIM:612001
51621	KLF13	HP:0010864	Intellectual disability, severe	3/18	OMIM:612001
51621	KLF13	HP:0001256	Intellectual disability, mild	5/17	OMIM:612001
51621	KLF13	HP:0001250	Seizure	2/18	OMIM:612001
51621	KLF13	HP:0001252	Hypotonia	9/18	OMIM:612001
51621	KLF13	HP:0003829	Typified by incomplete penetrance	50%	OMIM:612001
51621	KLF13	HP:0001328	Specific learning disability	7/25	OMIM:612001
51621	KLF13	HP:0000006	Autosomal dominant inheritance	-	OMIM:612001
51621	KLF13	HP:0002342	Intellectual disability, moderate	6/17	OMIM:612001
51621	KLF13	HP:0004209	Clinodactyly of the 5th finger	4/19	OMIM:612001
51621	KLF13	HP:0001999	Abnormal facial shape	HP:0040282	OMIM:612001
51621	KLF13	HP:0000664	Synophrys	3/19	OMIM:612001
51621	KLF13	HP:0030680	Abnormal cardiovascular system morphology	3/19	OMIM:612001
51621	KLF13	HP:0000708	Atypical behavior	10/19	OMIM:612001
51621	KLF13	HP:0008050	Abnormality of the palpebral fissures	7/19	OMIM:612001
51621	KLF13	HP:0000377	Abnormal pinna morphology	6/19	OMIM:612001
51621	KLF13	HP:0000316	Hypertelorism	3/19	OMIM:612001
51621	KLF13	HP:0000486	Strabismus	3/19	OMIM:612001
51626	DYNC2LI1	HP:0002488	Acute leukemia	HP:0040283	ORPHA:289
51626	DYNC2LI1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:474
51626	DYNC2LI1	HP:0001156	Brachydactyly	1/2	OMIM:617088
51626	DYNC2LI1	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:474
51626	DYNC2LI1	HP:0001162	Postaxial hand polydactyly	3/3	OMIM:617088
51626	DYNC2LI1	HP:0001161	Hand polydactyly	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
51626	DYNC2LI1	HP:0001293	Cranial nerve compression	-	OMIM:131300
51626	DYNC2LI1	HP:0001252	Hypotonia	2/7	OMIM:615777
51626	DYNC2LI1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:289
51626	DYNC2LI1	HP:0001249	Intellectual disability	5/7	OMIM:615777
51626	DYNC2LI1	HP:0001263	Global developmental delay	-	OMIM:615777
51626	DYNC2LI1	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0001241	Capitate-hamate fusion	HP:0040282	ORPHA:289
51626	DYNC2LI1	HP:0008753	Aplasia of the epiglottis	1/3	OMIM:617088
51626	DYNC2LI1	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:289
51626	DYNC2LI1	HP:0002515	Waddling gait	54/102	OMIM:131300
51626	DYNC2LI1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:474
51626	DYNC2LI1	HP:0000085	Horseshoe kidney	-	OMIM:617088
51626	DYNC2LI1	HP:0000090	Nephronophthisis	HP:0040283	ORPHA:474
51626	DYNC2LI1	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:474
51626	DYNC2LI1	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:289
51626	DYNC2LI1	HP:0000072	Hydroureter	HP:0040283	ORPHA:289
51626	DYNC2LI1	HP:0000069	Abnormality of the ureter	HP:0040282	ORPHA:289
51626	DYNC2LI1	HP:0000039	Epispadias	HP:0040282	ORPHA:289
51626	DYNC2LI1	HP:0001382	Joint hypermobility	-	OMIM:615777
51626	DYNC2LI1	HP:0000047	Hypospadias	HP:0040282	ORPHA:289
51626	DYNC2LI1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
51626	DYNC2LI1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:289
51626	DYNC2LI1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
51626	DYNC2LI1	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:474
51626	DYNC2LI1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
51626	DYNC2LI1	HP:0001324	Muscle weakness	40/96	OMIM:131300
51626	DYNC2LI1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
51626	DYNC2LI1	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:289
51626	DYNC2LI1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617088
51626	DYNC2LI1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
51626	DYNC2LI1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
51626	DYNC2LI1	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:474
51626	DYNC2LI1	HP:0002650	Scoliosis	12/14	OMIM:131300
51626	DYNC2LI1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
51626	DYNC2LI1	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:474
51626	DYNC2LI1	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040282	ORPHA:289
51626	DYNC2LI1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
51626	DYNC2LI1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
51626	DYNC2LI1	HP:0008921	Neonatal short-limb short stature	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
51626	DYNC2LI1	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:289
51626	DYNC2LI1	HP:0000191	Accessory oral frenulum	-	OMIM:617088
51626	DYNC2LI1	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0000161	Median cleft upper lip	2/3	OMIM:617088
51626	DYNC2LI1	HP:0000175	Cleft palate	2/7	OMIM:615777
51626	DYNC2LI1	HP:0000148	Vaginal atresia	-	OMIM:617088
51626	DYNC2LI1	HP:0000112	Nephropathy	HP:0040283	ORPHA:474
51626	DYNC2LI1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:289
51626	DYNC2LI1	HP:0002098	Respiratory distress	-	OMIM:617088
51626	DYNC2LI1	HP:0002097	Emphysema	HP:0040283	ORPHA:289
51626	DYNC2LI1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:474
51626	DYNC2LI1	HP:0003388	Easy fatigability	36/76	OMIM:131300
51626	DYNC2LI1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
51626	DYNC2LI1	HP:0002164	Nail dysplasia	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0002164	Nail dysplasia	-	OMIM:617088
51626	DYNC2LI1	HP:0010566	Hamartoma	-	OMIM:617088
51626	DYNC2LI1	HP:0011830	Abnormal oral mucosa morphology	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:474
51626	DYNC2LI1	HP:0010579	Cone-shaped epiphysis	2/2	OMIM:617088
51626	DYNC2LI1	HP:0002240	Hepatomegaly	-	OMIM:617088
51626	DYNC2LI1	HP:0003510	Severe short stature	7/7	OMIM:615777
51626	DYNC2LI1	HP:0002315	Headache	-	OMIM:131300
51626	DYNC2LI1	HP:0004976	Knee dislocation	6/7	OMIM:615777
51626	DYNC2LI1	HP:0009803	Short phalanx of finger	-	OMIM:615777
51626	DYNC2LI1	HP:0009763	Limb pain	63/92	OMIM:131300
51626	DYNC2LI1	HP:0003621	Juvenile onset	-	OMIM:131300
51626	DYNC2LI1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
51626	DYNC2LI1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
51626	DYNC2LI1	HP:0005561	Abnormal bone marrow cell morphology	HP:0040283	ORPHA:289
51626	DYNC2LI1	HP:6001056	Out-toeing	-	OMIM:131300
51626	DYNC2LI1	HP:0000651	Diplopia	-	OMIM:131300
51626	DYNC2LI1	HP:0001956	Truncal obesity	2/7	OMIM:615777
51626	DYNC2LI1	HP:0001903	Anemia	HP:0040283	OMIM:131300
51626	DYNC2LI1	HP:0010049	Short metacarpal	-	OMIM:615777
51626	DYNC2LI1	HP:0011362	Abnormal hair quantity	HP:0040283	ORPHA:289
51626	DYNC2LI1	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:289
51626	DYNC2LI1	HP:0000678	Dental crowding	-	OMIM:615777
51626	DYNC2LI1	HP:0000691	Microdontia	HP:0040282	ORPHA:289
51626	DYNC2LI1	HP:0000670	Carious teeth	-	OMIM:131300
51626	DYNC2LI1	HP:0011304	Broad thumb	2/7	OMIM:615777
51626	DYNC2LI1	HP:0000668	Hypodontia	-	OMIM:615777
51626	DYNC2LI1	HP:0000668	Hypodontia	HP:0040282	ORPHA:289
51626	DYNC2LI1	HP:0000668	Hypodontia	-	OMIM:617088
51626	DYNC2LI1	HP:0000664	Synophrys	-	OMIM:615777
51626	DYNC2LI1	HP:0004322	Short stature	-	OMIM:617088
51626	DYNC2LI1	HP:0004322	Short stature	HP:0040283	ORPHA:474
51626	DYNC2LI1	HP:0030674	Antenatal onset	3/3	OMIM:617088
51626	DYNC2LI1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0004396	Poor appetite	-	OMIM:131300
51626	DYNC2LI1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
51626	DYNC2LI1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
51626	DYNC2LI1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
51626	DYNC2LI1	HP:0003026	Short long bone	7/7	OMIM:615777
51626	DYNC2LI1	HP:0003026	Short long bone	6/6	OMIM:617088
51626	DYNC2LI1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
51626	DYNC2LI1	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:474
51626	DYNC2LI1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
51626	DYNC2LI1	HP:0000766	Abnormal sternum morphology	HP:0040282	ORPHA:474
51626	DYNC2LI1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
51626	DYNC2LI1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
51626	DYNC2LI1	HP:0000750	Delayed speech and language development	-	OMIM:615777
51626	DYNC2LI1	HP:0011461	Fetal onset	7/7	OMIM:615777
51626	DYNC2LI1	HP:0011461	Fetal onset	3/3	OMIM:617088
51626	DYNC2LI1	HP:0000774	Narrow chest	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0000774	Narrow chest	HP:0040281	ORPHA:474
51626	DYNC2LI1	HP:0000774	Narrow chest	2/7	OMIM:615777
51626	DYNC2LI1	HP:0000774	Narrow chest	9/9	OMIM:617088
51626	DYNC2LI1	HP:0000773	Short ribs	-	OMIM:617088
51626	DYNC2LI1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:289
51626	DYNC2LI1	HP:0000926	Platyspondyly	1/7	OMIM:615777
51626	DYNC2LI1	HP:0003180	Flat acetabular roof	-	OMIM:615777
51626	DYNC2LI1	HP:0004482	Relative macrocephaly	-	OMIM:615777
51626	DYNC2LI1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
51626	DYNC2LI1	HP:0000888	Horizontal ribs	3/3	OMIM:617088
51626	DYNC2LI1	HP:0000889	Abnormal clavicle morphology	HP:0040282	ORPHA:474
51626	DYNC2LI1	HP:0000823	Delayed puberty	-	OMIM:131300
51626	DYNC2LI1	HP:0000894	Short clavicles	-	OMIM:615777
51626	DYNC2LI1	HP:0000894	Short clavicles	-	OMIM:617088
51626	DYNC2LI1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
51626	DYNC2LI1	HP:0100259	Postaxial polydactyly	3/3	OMIM:617088
51626	DYNC2LI1	HP:0010306	Short thorax	HP:0040281	ORPHA:474
51626	DYNC2LI1	HP:0010306	Short thorax	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
51626	DYNC2LI1	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:474
51626	DYNC2LI1	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:474
51626	DYNC2LI1	HP:0000286	Epicanthus	1/2	OMIM:617088
51626	DYNC2LI1	HP:0000286	Epicanthus	1/7	OMIM:615777
51626	DYNC2LI1	HP:0000280	Coarse facial features	2/7	OMIM:615777
51626	DYNC2LI1	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0002827	Hip dislocation	3/7	OMIM:615777
51626	DYNC2LI1	HP:0005048	Synostosis of carpal bones	HP:0040283	ORPHA:289
51626	DYNC2LI1	HP:0000252	Microcephaly	-	OMIM:615777
51626	DYNC2LI1	HP:0001561	Polyhydramnios	13/13	OMIM:617088
51626	DYNC2LI1	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:289
51626	DYNC2LI1	HP:0030010	Hydrometrocolpos	-	OMIM:617088
51626	DYNC2LI1	HP:0002857	Genu valgum	-	OMIM:131300
51626	DYNC2LI1	HP:0002857	Genu valgum	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0001533	Slender build	-	OMIM:131300
51626	DYNC2LI1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:289
51626	DYNC2LI1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
51626	DYNC2LI1	HP:0007807	Optic nerve compression	-	OMIM:131300
51626	DYNC2LI1	HP:0011069	Supernumerary tooth	-	OMIM:617088
51626	DYNC2LI1	HP:0011065	Conical incisor	HP:0040282	ORPHA:289
51626	DYNC2LI1	HP:0012368	Flat face	7/7	OMIM:615777
51626	DYNC2LI1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
51626	DYNC2LI1	HP:0001696	Situs inversus totalis	HP:0040282	ORPHA:289
51626	DYNC2LI1	HP:0000365	Hearing impairment	10/67	OMIM:131300
51626	DYNC2LI1	HP:0000369	Low-set ears	1/2	OMIM:617088
51626	DYNC2LI1	HP:0000343	Long philtrum	1/7	OMIM:615777
51626	DYNC2LI1	HP:0011001	Increased bone mineral density	-	OMIM:131300
51626	DYNC2LI1	HP:0001680	Coarctation of aorta	-	OMIM:617088
51626	DYNC2LI1	HP:0002983	Micromelia	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0002983	Micromelia	HP:0040281	ORPHA:474
51626	DYNC2LI1	HP:0001651	Dextrocardia	HP:0040282	ORPHA:289
51626	DYNC2LI1	HP:0001643	Patent ductus arteriosus	-	OMIM:617088
51626	DYNC2LI1	HP:0000311	Round face	2/7	OMIM:615777
51626	DYNC2LI1	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:289
51626	DYNC2LI1	HP:0002970	Genu varum	-	OMIM:615777
51626	DYNC2LI1	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:289
51626	DYNC2LI1	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:289
51626	DYNC2LI1	HP:0000303	Mandibular prognathia	-	OMIM:131300
51626	DYNC2LI1	HP:0006695	Atrioventricular canal defect	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0006695	Atrioventricular canal defect	1/3	OMIM:617088
51626	DYNC2LI1	HP:0005280	Depressed nasal bridge	-	OMIM:617088
51626	DYNC2LI1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
51626	DYNC2LI1	HP:0000486	Strabismus	HP:0040282	ORPHA:289
51626	DYNC2LI1	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:617088
51626	DYNC2LI1	HP:0000470	Short neck	1/7	OMIM:615777
51626	DYNC2LI1	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:474
51626	DYNC2LI1	HP:0001773	Short foot	HP:0040282	ORPHA:474
51626	DYNC2LI1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
51626	DYNC2LI1	HP:0001763	Pes planus	1/7	OMIM:615777
51626	DYNC2LI1	HP:0001744	Splenomegaly	-	OMIM:617088
51626	DYNC2LI1	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040283	ORPHA:474
51626	DYNC2LI1	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040282	ORPHA:289
51626	DYNC2LI1	HP:0001840	Metatarsus adductus	-	OMIM:615777
51626	DYNC2LI1	HP:0000520	Proptosis	2/4	OMIM:131300
51626	DYNC2LI1	HP:0000520	Proptosis	7/7	OMIM:615777
51626	DYNC2LI1	HP:0001829	Foot polydactyly	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0001830	Postaxial foot polydactyly	HP:0040283	ORPHA:474
51626	DYNC2LI1	HP:0001800	Hypoplastic toenails	HP:0040281	ORPHA:289
51626	DYNC2LI1	HP:0000592	Blue sclerae	2/7	OMIM:615777
51626	DYNC2LI1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
51626	DYNC2LI1	HP:0012514	Lower limb pain	4/4	OMIM:131300
51633	OTUD6B	HP:0001187	Hyperextensibility of the finger joints	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0001182	Tapered finger	-	OMIM:617452
51633	OTUD6B	HP:0001182	Tapered finger	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:505237
51633	OTUD6B	HP:0010864	Intellectual disability, severe	12/12	OMIM:617452
51633	OTUD6B	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:505237
51633	OTUD6B	HP:0001290	Generalized hypotonia	9/12	OMIM:617452
51633	OTUD6B	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0001276	Hypertonia	-	OMIM:617452
51633	OTUD6B	HP:0001276	Hypertonia	HP:0040283	ORPHA:505237
51633	OTUD6B	HP:0001250	Seizure	12/12	OMIM:617452
51633	OTUD6B	HP:0001250	Seizure	HP:0040281	ORPHA:505237
51633	OTUD6B	HP:0001251	Ataxia	HP:0040283	ORPHA:505237
51633	OTUD6B	HP:0001263	Global developmental delay	-	OMIM:617452
51633	OTUD6B	HP:0001263	Global developmental delay	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0001257	Spasticity	HP:0040283	ORPHA:505237
51633	OTUD6B	HP:0008772	Aplasia/Hypoplasia of the external ear	HP:0040283	ORPHA:505237
51633	OTUD6B	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0002540	Inability to walk	-	OMIM:617452
51633	OTUD6B	HP:0002540	Inability to walk	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0002553	Highly arched eyebrow	3/12	OMIM:617452
51633	OTUD6B	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0002510	Spastic tetraplegia	2/12	OMIM:617452
51633	OTUD6B	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:505237
51633	OTUD6B	HP:0001371	Flexion contracture	-	OMIM:617452
51633	OTUD6B	HP:0000028	Cryptorchidism	-	OMIM:617452
51633	OTUD6B	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:505237
51633	OTUD6B	HP:0001344	Absent speech	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0000007	Autosomal recessive inheritance	-	OMIM:617452
51633	OTUD6B	HP:0002650	Scoliosis	5/12	OMIM:617452
51633	OTUD6B	HP:0002650	Scoliosis	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0002079	Hypoplasia of the corpus callosum	3/12	OMIM:617452
51633	OTUD6B	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:505237
51633	OTUD6B	HP:0002119	Ventriculomegaly	-	OMIM:617452
51633	OTUD6B	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0002194	Delayed gross motor development	9/12	OMIM:617452
51633	OTUD6B	HP:0011968	Feeding difficulties	9/12	OMIM:617452
51633	OTUD6B	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0200021	Down-sloping shoulders	3/12	OMIM:617452
51633	OTUD6B	HP:0000637	Long palpebral fissure	6/12	OMIM:617452
51633	OTUD6B	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0011304	Broad thumb	6/12	OMIM:617452
51633	OTUD6B	HP:0011304	Broad thumb	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0004325	Decreased body weight	6/12	OMIM:617452
51633	OTUD6B	HP:0004325	Decreased body weight	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0004322	Short stature	7/12	OMIM:617452
51633	OTUD6B	HP:0004322	Short stature	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0100021	Cerebral palsy	HP:0040284	ORPHA:505237
51633	OTUD6B	HP:0000750	Delayed speech and language development	9/12	OMIM:617452
51633	OTUD6B	HP:0000729	Autistic behavior	3/12	OMIM:617452
51633	OTUD6B	HP:0000729	Autistic behavior	HP:0040283	ORPHA:505237
51633	OTUD6B	HP:0003121	Limb joint contracture	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0000960	Sacral dimple	2/12	OMIM:617452
51633	OTUD6B	HP:0000960	Sacral dimple	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0000278	Retrognathia	4/12	OMIM:617452
51633	OTUD6B	HP:0000278	Retrognathia	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0000276	Long face	-	OMIM:617452
51633	OTUD6B	HP:0000276	Long face	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0000252	Microcephaly	9/12	OMIM:617452
51633	OTUD6B	HP:0000252	Microcephaly	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0000248	Brachycephaly	1/12	OMIM:617452
51633	OTUD6B	HP:0000248	Brachycephaly	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0000219	Thin upper lip vermilion	6/12	OMIM:617452
51633	OTUD6B	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0000218	High palate	-	OMIM:617452
51633	OTUD6B	HP:0000218	High palate	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0001508	Failure to thrive	-	OMIM:617452
51633	OTUD6B	HP:0001508	Failure to thrive	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0001511	Intrauterine growth retardation	7/12	OMIM:617452
51633	OTUD6B	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0000377	Abnormal pinna morphology	-	OMIM:617452
51633	OTUD6B	HP:0000365	Hearing impairment	-	OMIM:617452
51633	OTUD6B	HP:0000365	Hearing impairment	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0000369	Low-set ears	-	OMIM:617452
51633	OTUD6B	HP:0000369	Low-set ears	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0000343	Long philtrum	7/12	OMIM:617452
51633	OTUD6B	HP:0000343	Long philtrum	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0001629	Ventricular septal defect	2/6	OMIM:617452
51633	OTUD6B	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:505237
51633	OTUD6B	HP:0001631	Atrial septal defect	3/6	OMIM:617452
51633	OTUD6B	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:505237
51633	OTUD6B	HP:0000400	Macrotia	7/12	OMIM:617452
51633	OTUD6B	HP:0000400	Macrotia	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0000494	Downslanted palpebral fissures	-	OMIM:617452
51633	OTUD6B	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0012450	Chronic constipation	2/12	OMIM:617452
51633	OTUD6B	HP:0012450	Chronic constipation	HP:0040283	ORPHA:505237
51633	OTUD6B	HP:0000470	Short neck	3/12	OMIM:617452
51633	OTUD6B	HP:0000470	Short neck	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:505237
51633	OTUD6B	HP:0000445	Wide nose	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0000411	Protruding ear	-	OMIM:617452
51633	OTUD6B	HP:0001762	Talipes equinovarus	-	OMIM:617452
51633	OTUD6B	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0000431	Wide nasal bridge	-	OMIM:617452
51633	OTUD6B	HP:0000426	Prominent nasal bridge	5/12	OMIM:617452
51633	OTUD6B	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0005469	Flat occiput	-	OMIM:617452
51633	OTUD6B	HP:0005469	Flat occiput	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0001845	Overlapping toe	3/12	OMIM:617452
51633	OTUD6B	HP:0001845	Overlapping toe	HP:0040282	ORPHA:505237
51633	OTUD6B	HP:0000527	Long eyelashes	-	OMIM:617452
51633	OTUD6B	HP:0000527	Long eyelashes	HP:0040282	ORPHA:505237
51645	PPIL1	HP:0410252	Persistently decreased total neutrophil count	2/9	OMIM:619301
51645	PPIL1	HP:0010864	Intellectual disability, severe	9/9	OMIM:619301
51645	PPIL1	HP:0009879	Simplified gyral pattern	5/8	OMIM:619301
51645	PPIL1	HP:0001276	Hypertonia	5/9	OMIM:619301
51645	PPIL1	HP:0001274	Agenesis of corpus callosum	8/8	OMIM:619301
51645	PPIL1	HP:0001270	Motor delay	9/9	OMIM:619301
51645	PPIL1	HP:0001252	Hypotonia	6/9	OMIM:619301
51645	PPIL1	HP:0007359	Focal-onset seizure	2/9	OMIM:619301
51645	PPIL1	HP:0002510	Spastic tetraplegia	8/9	OMIM:619301
51645	PPIL1	HP:0001348	Brisk reflexes	8/9	OMIM:619301
51645	PPIL1	HP:0001332	Dystonia	3/9	OMIM:619301
51645	PPIL1	HP:0001344	Absent speech	8/9	OMIM:619301
51645	PPIL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619301
51645	PPIL1	HP:0001321	Cerebellar hypoplasia	9/9	OMIM:619301
51645	PPIL1	HP:0012110	Hypoplasia of the pons	9/9	OMIM:619301
51645	PPIL1	HP:0002069	Bilateral tonic-clonic seizure	2/9	OMIM:619301
51645	PPIL1	HP:0002188	Delayed CNS myelination	2/8	OMIM:619301
51645	PPIL1	HP:0002365	Hypoplasia of the brainstem	9/9	OMIM:619301
51645	PPIL1	HP:0000238	Hydrocephalus	0/8	OMIM:619301
51645	PPIL1	HP:0001522	Death in infancy	3/9	OMIM:619301
51645	PPIL1	HP:0032794	Myoclonic seizure	2/9	OMIM:619301
51645	PPIL1	HP:0012469	Infantile spasms	2/9	OMIM:619301
51645	PPIL1	HP:0012434	Delayed early-childhood social milestone development	9/9	OMIM:619301
51645	PPIL1	HP:0001873	Thrombocytopenia	2/9	OMIM:619301
51649	MRPS23	HP:0000007	Autosomal recessive inheritance	-	OMIM:618952
51649	MRPS23	HP:0001410	Decreased liver function	1/1	OMIM:618952
51649	MRPS23	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:618952
51649	MRPS23	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:618952
51651	PTRH2	HP:0001155	Abnormality of the hand	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0002460	Distal muscle weakness	2/2	OMIM:616263
51651	PTRH2	HP:0100800	Aplasia/Hypoplasia of the pancreas	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0100807	Long fingers	1/2	OMIM:616263
51651	PTRH2	HP:0100807	Long fingers	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0001272	Cerebellar atrophy	2/2	OMIM:616263
51651	PTRH2	HP:0001270	Motor delay	2/2	OMIM:616263
51651	PTRH2	HP:0001270	Motor delay	HP:0040281	ORPHA:456312
51651	PTRH2	HP:0001250	Seizure	HP:0040284	OMIM:616263
51651	PTRH2	HP:0001252	Hypotonia	1/2	OMIM:616263
51651	PTRH2	HP:0001251	Ataxia	2/2	OMIM:616263
51651	PTRH2	HP:0001251	Ataxia	HP:0040281	ORPHA:456312
51651	PTRH2	HP:0001249	Intellectual disability	-	OMIM:616263
51651	PTRH2	HP:0001265	Hyporeflexia	-	OMIM:616263
51651	PTRH2	HP:0001263	Global developmental delay	2/2	OMIM:616263
51651	PTRH2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:456312
51651	PTRH2	HP:0002570	Steatorrhea	-	OMIM:616263
51651	PTRH2	HP:0001397	Hepatic steatosis	2/2	OMIM:616263
51651	PTRH2	HP:0001395	Hepatic fibrosis	2/2	OMIM:616263
51651	PTRH2	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0000049	Shawl scrotum	1/1	OMIM:616263
51651	PTRH2	HP:0000049	Shawl scrotum	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0008897	Postnatal growth retardation	2/2	OMIM:616263
51651	PTRH2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616263
51651	PTRH2	HP:0001310	Dysmetria	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0001310	Dysmetria	1/1	OMIM:616263
51651	PTRH2	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0006276	Hyperechogenic pancreas	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0011800	Midface retrusion	2/2	OMIM:616263
51651	PTRH2	HP:0030951	Skeletal muscle fibrosis	1/2	OMIM:616263
51651	PTRH2	HP:0030951	Skeletal muscle fibrosis	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0002058	Myopathic facies	2/2	OMIM:616263
51651	PTRH2	HP:0009463	Ulnar deviation of the 3rd finger	1/2	OMIM:616263
51651	PTRH2	HP:0009463	Ulnar deviation of the 3rd finger	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0009464	Ulnar deviation of the 2nd finger	1/2	OMIM:616263
51651	PTRH2	HP:0009464	Ulnar deviation of the 2nd finger	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0009473	Joint contracture of the hand	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0003448	Decreased sensory nerve conduction velocity	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0003431	Decreased motor nerve conduction velocity	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0009623	Proximal placement of thumb	2/2	OMIM:616263
51651	PTRH2	HP:0009623	Proximal placement of thumb	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0003593	Infantile onset	1/2	OMIM:616263
51651	PTRH2	HP:0003577	Congenital onset	1/2	OMIM:616263
51651	PTRH2	HP:0002240	Hepatomegaly	1/2	OMIM:616263
51651	PTRH2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0100732	Pancreatic fibrosis	1/2	OMIM:616263
51651	PTRH2	HP:0008366	Foot joint contracture	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0010628	Facial palsy	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0003693	Distal amyotrophy	HP:0040281	ORPHA:456312
51651	PTRH2	HP:0003676	Progressive	-	OMIM:616263
51651	PTRH2	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:456312
51651	PTRH2	HP:0002342	Intellectual disability, moderate	2/2	OMIM:616263
51651	PTRH2	HP:0002353	EEG abnormality	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0007108	Demyelinating peripheral neuropathy	2/2	OMIM:616263
51651	PTRH2	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:456312
51651	PTRH2	HP:0004322	Short stature	-	OMIM:616263
51651	PTRH2	HP:0100307	Cerebellar hemisphere hypoplasia	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0000819	Diabetes mellitus	HP:0040284	OMIM:616263
51651	PTRH2	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0000821	Hypothyroidism	2/2	OMIM:616263
51651	PTRH2	HP:0000823	Delayed puberty	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0000823	Delayed puberty	HP:0040284	OMIM:616263
51651	PTRH2	HP:0002827	Hip dislocation	1/2	OMIM:616263
51651	PTRH2	HP:0000253	Progressive microcephaly	-	OMIM:616263
51651	PTRH2	HP:0000248	Brachycephaly	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0000248	Brachycephaly	2/2	OMIM:616263
51651	PTRH2	HP:0000219	Thin upper lip vermilion	2/2	OMIM:616263
51651	PTRH2	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0001558	Decreased fetal movement	1/2	OMIM:616263
51651	PTRH2	HP:0001530	Mild postnatal growth retardation	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0001508	Failure to thrive	2/2	OMIM:616263
51651	PTRH2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0000316	Hypertelorism	2/2	OMIM:616263
51651	PTRH2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0030146	Abnormal liver parenchyma morphology	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0000309	Abnormal midface morphology	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0001738	Exocrine pancreatic insufficiency	2/2	OMIM:616263
51651	PTRH2	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:456312
51651	PTRH2	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:616263
51651	PTRH2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:456312
51651	PTRH2	HP:0001771	Achilles tendon contracture	1/2	OMIM:616263
51651	PTRH2	HP:0001771	Achilles tendon contracture	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0001772	Talipes equinovalgus	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0012418	Hypoxemia	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0001762	Talipes equinovarus	1/2	OMIM:616263
51651	PTRH2	HP:0005484	Secondary microcephaly	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0005484	Secondary microcephaly	2/2	OMIM:616263
51651	PTRH2	HP:0001844	Abnormal hallux morphology	HP:0040283	ORPHA:456312
51651	PTRH2	HP:0000577	Exotropia	HP:0040282	ORPHA:456312
51651	PTRH2	HP:0000577	Exotropia	2/2	OMIM:616263
51659	GINS2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
51659	GINS2	HP:0001293	Cranial nerve compression	-	OMIM:131300
51659	GINS2	HP:0001252	Hypotonia	2/7	OMIM:615777
51659	GINS2	HP:0001249	Intellectual disability	5/7	OMIM:615777
51659	GINS2	HP:0001263	Global developmental delay	-	OMIM:615777
51659	GINS2	HP:0002515	Waddling gait	54/102	OMIM:131300
51659	GINS2	HP:0001382	Joint hypermobility	-	OMIM:615777
51659	GINS2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
51659	GINS2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
51659	GINS2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
51659	GINS2	HP:0001324	Muscle weakness	40/96	OMIM:131300
51659	GINS2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
51659	GINS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
51659	GINS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
51659	GINS2	HP:0002650	Scoliosis	12/14	OMIM:131300
51659	GINS2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
51659	GINS2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
51659	GINS2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
51659	GINS2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
51659	GINS2	HP:0000175	Cleft palate	2/7	OMIM:615777
51659	GINS2	HP:0003388	Easy fatigability	36/76	OMIM:131300
51659	GINS2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
51659	GINS2	HP:0003510	Severe short stature	7/7	OMIM:615777
51659	GINS2	HP:0002315	Headache	-	OMIM:131300
51659	GINS2	HP:0004976	Knee dislocation	6/7	OMIM:615777
51659	GINS2	HP:0009803	Short phalanx of finger	-	OMIM:615777
51659	GINS2	HP:0009763	Limb pain	63/92	OMIM:131300
51659	GINS2	HP:0003621	Juvenile onset	-	OMIM:131300
51659	GINS2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
51659	GINS2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
51659	GINS2	HP:6001056	Out-toeing	-	OMIM:131300
51659	GINS2	HP:0000651	Diplopia	-	OMIM:131300
51659	GINS2	HP:0001956	Truncal obesity	2/7	OMIM:615777
51659	GINS2	HP:0001903	Anemia	HP:0040283	OMIM:131300
51659	GINS2	HP:0010049	Short metacarpal	-	OMIM:615777
51659	GINS2	HP:0000678	Dental crowding	-	OMIM:615777
51659	GINS2	HP:0000670	Carious teeth	-	OMIM:131300
51659	GINS2	HP:0011304	Broad thumb	2/7	OMIM:615777
51659	GINS2	HP:0000668	Hypodontia	-	OMIM:615777
51659	GINS2	HP:0000664	Synophrys	-	OMIM:615777
51659	GINS2	HP:0004396	Poor appetite	-	OMIM:131300
51659	GINS2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
51659	GINS2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
51659	GINS2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
51659	GINS2	HP:0003026	Short long bone	7/7	OMIM:615777
51659	GINS2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
51659	GINS2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
51659	GINS2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
51659	GINS2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
51659	GINS2	HP:0000750	Delayed speech and language development	-	OMIM:615777
51659	GINS2	HP:0011461	Fetal onset	7/7	OMIM:615777
51659	GINS2	HP:0000774	Narrow chest	2/7	OMIM:615777
51659	GINS2	HP:0000926	Platyspondyly	1/7	OMIM:615777
51659	GINS2	HP:0003180	Flat acetabular roof	-	OMIM:615777
51659	GINS2	HP:0004482	Relative macrocephaly	-	OMIM:615777
51659	GINS2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
51659	GINS2	HP:0000823	Delayed puberty	-	OMIM:131300
51659	GINS2	HP:0000894	Short clavicles	-	OMIM:615777
51659	GINS2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
51659	GINS2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
51659	GINS2	HP:0000286	Epicanthus	1/7	OMIM:615777
51659	GINS2	HP:0000280	Coarse facial features	2/7	OMIM:615777
51659	GINS2	HP:0002827	Hip dislocation	3/7	OMIM:615777
51659	GINS2	HP:0000252	Microcephaly	-	OMIM:615777
51659	GINS2	HP:0002857	Genu valgum	-	OMIM:131300
51659	GINS2	HP:0001533	Slender build	-	OMIM:131300
51659	GINS2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
51659	GINS2	HP:0007807	Optic nerve compression	-	OMIM:131300
51659	GINS2	HP:0012368	Flat face	7/7	OMIM:615777
51659	GINS2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
51659	GINS2	HP:0000365	Hearing impairment	10/67	OMIM:131300
51659	GINS2	HP:0000343	Long philtrum	1/7	OMIM:615777
51659	GINS2	HP:0011001	Increased bone mineral density	-	OMIM:131300
51659	GINS2	HP:0000311	Round face	2/7	OMIM:615777
51659	GINS2	HP:0002970	Genu varum	-	OMIM:615777
51659	GINS2	HP:0000303	Mandibular prognathia	-	OMIM:131300
51659	GINS2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
51659	GINS2	HP:0000470	Short neck	1/7	OMIM:615777
51659	GINS2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
51659	GINS2	HP:0001763	Pes planus	1/7	OMIM:615777
51659	GINS2	HP:0001840	Metatarsus adductus	-	OMIM:615777
51659	GINS2	HP:0000520	Proptosis	2/4	OMIM:131300
51659	GINS2	HP:0000520	Proptosis	7/7	OMIM:615777
51659	GINS2	HP:0000592	Blue sclerae	2/7	OMIM:615777
51659	GINS2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
51659	GINS2	HP:0012514	Lower limb pain	4/4	OMIM:131300
51660	MPC1	HP:0001298	Encephalopathy	HP:0040283	OMIM:614741
51660	MPC1	HP:0001290	Generalized hypotonia	-	OMIM:614741
51660	MPC1	HP:0001250	Seizure	HP:0040283	OMIM:614741
51660	MPC1	HP:0001252	Hypotonia	-	OMIM:614741
51660	MPC1	HP:0001263	Global developmental delay	-	OMIM:614741
51660	MPC1	HP:0003828	Variable expressivity	-	OMIM:614741
51660	MPC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614741
51660	MPC1	HP:0002098	Respiratory distress	HP:0040283	OMIM:614741
51660	MPC1	HP:0002151	Increased circulating lactate concentration	-	OMIM:614741
51660	MPC1	HP:0003577	Congenital onset	-	OMIM:614741
51660	MPC1	HP:0002240	Hepatomegaly	-	OMIM:614741
51660	MPC1	HP:0003542	Increased circulating pyruvate concentration	-	OMIM:614741
51660	MPC1	HP:0009830	Peripheral neuropathy	HP:0040283	OMIM:614741
51660	MPC1	HP:0001943	Hypoglycemia	-	OMIM:614741
51660	MPC1	HP:0001992	Organic aciduria	-	OMIM:614741
51660	MPC1	HP:0003128	Lactic acidosis	-	OMIM:614741
51660	MPC1	HP:0000286	Epicanthus	HP:0040283	OMIM:614741
51660	MPC1	HP:0000253	Progressive microcephaly	HP:0040283	OMIM:614741
51660	MPC1	HP:0001583	Rotary nystagmus	HP:0040283	OMIM:614741
51660	MPC1	HP:0000219	Thin upper lip vermilion	HP:0040283	OMIM:614741
51660	MPC1	HP:0000343	Long philtrum	HP:0040283	OMIM:614741
51663	ZFR	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:401840
51663	ZFR	HP:0001263	Global developmental delay	HP:0040282	ORPHA:401840
51663	ZFR	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:401840
51663	ZFR	HP:0002064	Spastic gait	HP:0040282	ORPHA:401840
51663	ZFR	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:401840
51663	ZFR	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:401840
51663	ZFR	HP:0003487	Babinski sign	HP:0040282	ORPHA:401840
51663	ZFR	HP:0003457	EMG abnormality	-	ORPHA:401840
51663	ZFR	HP:0007020	Progressive spastic paraplegia	HP:0040282	ORPHA:401840
51663	ZFR	HP:0002378	Hand tremor	HP:0040282	ORPHA:401840
51663	ZFR	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:401840
51663	ZFR	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:401840
51663	ZFR	HP:0012447	Abnormal myelination	HP:0040282	ORPHA:401840
51684	SUFU	HP:0001156	Brachydactyly	HP:0040282	ORPHA:377
51684	SUFU	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:377
51684	SUFU	HP:0001162	Postaxial hand polydactyly	3/4	OMIM:617757
51684	SUFU	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
51684	SUFU	HP:0009914	Cyclopia	HP:0040283	ORPHA:280200
51684	SUFU	HP:0002419	Molar tooth sign on MRI	4/4	OMIM:617757
51684	SUFU	HP:0003764	Nevus	1/2	OMIM:620343
51684	SUFU	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280200
51684	SUFU	HP:0001269	Hemiparesis	HP:0040283	ORPHA:2495
51684	SUFU	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
51684	SUFU	HP:0001288	Gait disturbance	HP:0040283	ORPHA:2495
51684	SUFU	HP:0001279	Syncope	HP:0040284	ORPHA:2495
51684	SUFU	HP:0001256	Intellectual disability, mild	4/4	OMIM:617757
51684	SUFU	HP:0001250	Seizure	HP:0040283	ORPHA:280200
51684	SUFU	HP:0001250	Seizure	HP:0040282	ORPHA:2495
51684	SUFU	HP:0001250	Seizure	HP:0040283	ORPHA:475
51684	SUFU	HP:0001252	Hypotonia	3/4	OMIM:617757
51684	SUFU	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
51684	SUFU	HP:0001251	Ataxia	HP:0040281	ORPHA:475
51684	SUFU	HP:0001251	Ataxia	HP:0040283	ORPHA:2495
51684	SUFU	HP:0001251	Ataxia	4/4	OMIM:617757
51684	SUFU	HP:0001249	Intellectual disability	HP:0040283	ORPHA:377
51684	SUFU	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280200
51684	SUFU	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
51684	SUFU	HP:0001260	Dysarthria	-	OMIM:617757
51684	SUFU	HP:0001263	Global developmental delay	4/4	OMIM:617757
51684	SUFU	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
51684	SUFU	HP:0001262	Excessive daytime somnolence	HP:0040284	ORPHA:2495
51684	SUFU	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:280200
51684	SUFU	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
51684	SUFU	HP:0010997	Chromosomal breakage induced by ionizing radiation	HP:0040281	ORPHA:2495
51684	SUFU	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:2495
51684	SUFU	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:2495
51684	SUFU	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
51684	SUFU	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:2495
51684	SUFU	HP:0002514	Cerebral calcification	HP:0040281	ORPHA:377
51684	SUFU	HP:0002512	Brain stem compression	HP:0040284	ORPHA:2495
51684	SUFU	HP:0003829	Typified by incomplete penetrance	-	OMIM:155255
51684	SUFU	HP:0003829	Typified by incomplete penetrance	-	OMIM:607174
51684	SUFU	HP:0000098	Tall stature	3/4	OMIM:617757
51684	SUFU	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:280200
51684	SUFU	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:2495
51684	SUFU	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:377
51684	SUFU	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:2495
51684	SUFU	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:280200
51684	SUFU	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:377
51684	SUFU	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
51684	SUFU	HP:0002664	Neoplasm	HP:0040281	ORPHA:377
51684	SUFU	HP:0001342	Cerebral hemorrhage	HP:0040284	ORPHA:2495
51684	SUFU	HP:0002671	Basal cell carcinoma	2/2	OMIM:620343
51684	SUFU	HP:0002671	Basal cell carcinoma	HP:0040282	ORPHA:377
51684	SUFU	HP:0000007	Autosomal recessive inheritance	-	OMIM:617757
51684	SUFU	HP:0000007	Autosomal recessive inheritance	-	OMIM:155255
51684	SUFU	HP:0001337	Tremor	HP:0040283	ORPHA:475
51684	SUFU	HP:0000006	Autosomal dominant inheritance	-	OMIM:620343
51684	SUFU	HP:0000006	Autosomal dominant inheritance	-	OMIM:607174
51684	SUFU	HP:0000006	Autosomal dominant inheritance	-	OMIM:155255
51684	SUFU	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
51684	SUFU	HP:0002650	Scoliosis	HP:0040282	ORPHA:377
51684	SUFU	HP:0002650	Scoliosis	HP:0040283	ORPHA:280200
51684	SUFU	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
51684	SUFU	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:2495
51684	SUFU	HP:0001317	Abnormal cerebellum morphology	-	OMIM:617757
51684	SUFU	HP:0000175	Cleft palate	HP:0040283	ORPHA:280200
51684	SUFU	HP:0000141	Amenorrhea	HP:0040282	ORPHA:2495
51684	SUFU	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:280200
51684	SUFU	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
51684	SUFU	HP:0001442	Typified by somatic mosaicism	-	OMIM:155255
51684	SUFU	HP:0000104	Renal agenesis	HP:0040283	ORPHA:280200
51684	SUFU	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:2495
51684	SUFU	HP:0002007	Frontal bossing	HP:0040283	ORPHA:377
51684	SUFU	HP:0002007	Frontal bossing	1/2	OMIM:620343
51684	SUFU	HP:0002007	Frontal bossing	4/4	OMIM:617757
51684	SUFU	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
51684	SUFU	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
51684	SUFU	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2495
51684	SUFU	HP:0002099	Asthma	HP:0040283	ORPHA:280200
51684	SUFU	HP:0002076	Migraine	1/2	OMIM:620343
51684	SUFU	HP:0011752	Neoplasm of the posterior pituitary	HP:0040284	ORPHA:2495
51684	SUFU	HP:0011750	Neoplasm of the anterior pituitary	HP:0040283	ORPHA:2495
51684	SUFU	HP:0011730	Abnormal central sensory function	HP:0040283	ORPHA:2495
51684	SUFU	HP:0008163	Decreased circulating cortisol level	HP:0040282	ORPHA:2495
51684	SUFU	HP:0003468	Abnormal vertebral morphology	HP:0040283	ORPHA:377
51684	SUFU	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:2495
51684	SUFU	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
51684	SUFU	HP:0002126	Polymicrogyria	2/4	OMIM:617757
51684	SUFU	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:280200
51684	SUFU	HP:0002104	Apnea	HP:0040281	ORPHA:475
51684	SUFU	HP:0003418	Back pain	HP:0040284	ORPHA:2495
51684	SUFU	HP:0010603	Odontogenic keratocysts of the jaw	HP:0040282	ORPHA:377
51684	SUFU	HP:0002167	Abnormal speech pattern	HP:0040284	ORPHA:2495
51684	SUFU	HP:0008240	Secondary growth hormone deficiency	HP:0040282	ORPHA:2495
51684	SUFU	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:2495
51684	SUFU	HP:0008237	Hypothalamic hypothyroidism	HP:0040283	ORPHA:2495
51684	SUFU	HP:0010534	Transient global amnesia	HP:0040284	ORPHA:2495
51684	SUFU	HP:0008214	Decreased serum estradiol	HP:0040282	ORPHA:2495
51684	SUFU	HP:0008202	Reduced circulating prolactin concentration	HP:0040283	ORPHA:2495
51684	SUFU	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
51684	SUFU	HP:0003577	Congenital onset	1/2	OMIM:620343
51684	SUFU	HP:0003577	Congenital onset	4/4	OMIM:617757
51684	SUFU	HP:0003581	Adult onset	2/2	OMIM:620343
51684	SUFU	HP:0003581	Adult onset	-	OMIM:607174
51684	SUFU	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
51684	SUFU	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:280200
51684	SUFU	HP:0002280	Enlarged cisterna magna	1/2	OMIM:617757
51684	SUFU	HP:0010644	Midnasal stenosis	HP:0040281	ORPHA:280200
51684	SUFU	HP:0010628	Facial palsy	HP:0040283	ORPHA:2495
51684	SUFU	HP:0010618	Ovarian fibroma	HP:0040283	ORPHA:377
51684	SUFU	HP:0010617	Cardiac fibroma	HP:0040284	ORPHA:377
51684	SUFU	HP:0010615	Angiofibromas	1/2	OMIM:620343
51684	SUFU	HP:0010610	Palmar pits	HP:0040281	ORPHA:377
51684	SUFU	HP:0010610	Palmar pits	3/4	OMIM:620343
51684	SUFU	HP:0010612	Plantar pits	HP:0040281	ORPHA:377
51684	SUFU	HP:0010612	Plantar pits	2/2	OMIM:620343
51684	SUFU	HP:0001067	Neurofibroma	HP:0040283	ORPHA:2495
51684	SUFU	HP:0001067	Neurofibroma	1/2	OMIM:620343
51684	SUFU	HP:0001028	Hemangioma	HP:0040283	ORPHA:280200
51684	SUFU	HP:0002354	Memory impairment	HP:0040283	ORPHA:2495
51684	SUFU	HP:0002321	Vertigo	1/2	OMIM:620343
51684	SUFU	HP:0002315	Headache	HP:0040282	ORPHA:2495
51684	SUFU	HP:0100648	Neoplasm of the tongue	HP:0040284	ORPHA:2495
51684	SUFU	HP:0100661	Trigeminal neuralgia	HP:0040283	ORPHA:2495
51684	SUFU	HP:0200034	Papule	2/2	OMIM:620343
51684	SUFU	HP:0010828	Hemifacial spasm	HP:0040284	ORPHA:2495
51684	SUFU	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:280200
51684	SUFU	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:280200
51684	SUFU	HP:0001085	Papilledema	HP:0040283	ORPHA:2495
51684	SUFU	HP:0008422	Vertebral wedging	HP:0040282	ORPHA:377
51684	SUFU	HP:0030521	Bitemporal hemianopia	HP:0040282	ORPHA:2495
51684	SUFU	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:2495
51684	SUFU	HP:0030532	Visual acuity test abnormality	HP:0040283	ORPHA:2495
51684	SUFU	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
51684	SUFU	HP:0000639	Nystagmus	2/4	OMIM:617757
51684	SUFU	HP:0000618	Blindness	HP:0040284	ORPHA:2495
51684	SUFU	HP:0000612	Iris coloboma	HP:0040283	ORPHA:280200
51684	SUFU	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
51684	SUFU	HP:0000612	Iris coloboma	HP:0040283	ORPHA:377
51684	SUFU	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2495
51684	SUFU	HP:0000601	Hypotelorism	HP:0040282	ORPHA:280200
51684	SUFU	HP:0012691	Focal T2 hypointense thalamic lesion	HP:0040282	ORPHA:2495
51684	SUFU	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:2495
51684	SUFU	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
51684	SUFU	HP:0000657	Oculomotor apraxia	4/4	OMIM:617757
51684	SUFU	HP:0000670	Carious teeth	HP:0040283	ORPHA:377
51684	SUFU	HP:0004322	Short stature	HP:0040282	ORPHA:280200
51684	SUFU	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:2495
51684	SUFU	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:280200
51684	SUFU	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
51684	SUFU	HP:0000802	Impotence	HP:0040282	ORPHA:2495
51684	SUFU	HP:0100010	Spinal meningioma	HP:0040283	ORPHA:2495
51684	SUFU	HP:0100009	Intracranial meningioma	HP:0040281	ORPHA:2495
51684	SUFU	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:377
51684	SUFU	HP:0000712	Emotional lability	HP:0040284	ORPHA:2495
51684	SUFU	HP:0030591	Abnormal kinetic perimetry test	HP:0040283	ORPHA:2495
51684	SUFU	HP:0011462	Young adult onset	1/2	OMIM:620343
51684	SUFU	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:2495
51684	SUFU	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
51684	SUFU	HP:0030766	Ear pain	HP:0040284	ORPHA:2495
51684	SUFU	HP:0004408	Abnormality of the sense of smell	HP:0040283	ORPHA:377
51684	SUFU	HP:0004408	Abnormality of the sense of smell	HP:0040283	ORPHA:2495
51684	SUFU	HP:0003196	Short nose	HP:0040283	ORPHA:280200
51684	SUFU	HP:0000907	Anterior rib cupping	HP:0040282	ORPHA:377
51684	SUFU	HP:0000902	Rib fusion	HP:0040282	ORPHA:377
51684	SUFU	HP:0000892	Bifid ribs	HP:0040282	ORPHA:377
51684	SUFU	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:280200
51684	SUFU	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:2495
51684	SUFU	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
51684	SUFU	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:280200
51684	SUFU	HP:0030878	Abnormality on pulmonary function testing	HP:0040284	ORPHA:2495
51684	SUFU	HP:0045026	Abnormal mediastinum morphology	HP:0040284	ORPHA:2495
51684	SUFU	HP:0000995	Melanocytic nevus	HP:0040281	ORPHA:377
51684	SUFU	HP:0040171	Decreased serum testosterone concentration	HP:0040282	ORPHA:2495
51684	SUFU	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:2495
51684	SUFU	HP:0007715	Weak extraocular muscles	HP:0040283	ORPHA:2495
51684	SUFU	HP:0012285	Abnormal hypothalamus physiology	HP:0040283	ORPHA:2495
51684	SUFU	HP:0000286	Epicanthus	HP:0040283	ORPHA:377
51684	SUFU	HP:0000280	Coarse facial features	HP:0040283	ORPHA:377
51684	SUFU	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:2495
51684	SUFU	HP:0000256	Macrocephaly	HP:0040282	ORPHA:377
51684	SUFU	HP:0000256	Macrocephaly	2/2	OMIM:620343
51684	SUFU	HP:0000256	Macrocephaly	2/4	OMIM:617757
51684	SUFU	HP:0000276	Long face	HP:0040282	ORPHA:475
51684	SUFU	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
51684	SUFU	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:377
51684	SUFU	HP:0000238	Hydrocephalus	1/2	OMIM:620343
51684	SUFU	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2495
51684	SUFU	HP:0000252	Microcephaly	HP:0040282	ORPHA:280200
51684	SUFU	HP:0000248	Brachycephaly	HP:0040283	ORPHA:377
51684	SUFU	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
51684	SUFU	HP:0002885	Medulloblastoma	HP:0040284	ORPHA:377
51684	SUFU	HP:0002885	Medulloblastoma	-	OMIM:155255
51684	SUFU	HP:0002885	Medulloblastoma	1/2	OMIM:620343
51684	SUFU	HP:0002858	Meningioma	HP:0040283	ORPHA:377
51684	SUFU	HP:0002858	Meningioma	1/2	OMIM:620343
51684	SUFU	HP:0002858	Meningioma	-	OMIM:607174
51684	SUFU	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
51684	SUFU	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:280200
51684	SUFU	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:377
51684	SUFU	HP:0001520	Large for gestational age	1/4	OMIM:617757
51684	SUFU	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:280200
51684	SUFU	HP:0001513	Obesity	HP:0040283	ORPHA:2495
51684	SUFU	HP:0006520	Progressive pulmonary function impairment	HP:0040284	ORPHA:2495
51684	SUFU	HP:0002937	Hemivertebrae	HP:0040283	ORPHA:377
51684	SUFU	HP:0002948	Vertebral fusion	HP:0040282	ORPHA:377
51684	SUFU	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:2495
51684	SUFU	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
51684	SUFU	HP:0000360	Tinnitus	HP:0040284	ORPHA:2495
51684	SUFU	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
51684	SUFU	HP:0000316	Hypertelorism	HP:0040283	ORPHA:377
51684	SUFU	HP:0000316	Hypertelorism	4/4	OMIM:617757
51684	SUFU	HP:0000322	Short philtrum	HP:0040282	ORPHA:280200
51684	SUFU	HP:0001622	Premature birth	HP:0040282	ORPHA:280200
51684	SUFU	HP:0001639	Hypertrophic cardiomyopathy	1/2	OMIM:617757
51684	SUFU	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:280200
51684	SUFU	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:377
51684	SUFU	HP:0007924	Slow decrease in visual acuity	HP:0040283	ORPHA:2495
51684	SUFU	HP:0005280	Depressed nasal bridge	4/4	OMIM:617757
51684	SUFU	HP:0000486	Strabismus	HP:0040283	ORPHA:377
51684	SUFU	HP:0000486	Strabismus	HP:0040283	ORPHA:280200
51684	SUFU	HP:0000486	Strabismus	HP:0040283	ORPHA:475
51684	SUFU	HP:0011133	Increased sensitivity to ionizing radiation	HP:0040281	ORPHA:2495
51684	SUFU	HP:0000464	Abnormality of the neck	HP:0040282	ORPHA:377
51684	SUFU	HP:0000463	Anteverted nares	HP:0040283	ORPHA:280200
51684	SUFU	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
51684	SUFU	HP:0000453	Choanal atresia	HP:0040281	ORPHA:280200
51684	SUFU	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:280200
51684	SUFU	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:377
51684	SUFU	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
51684	SUFU	HP:0005449	Bridged sella turcica	HP:0040283	ORPHA:377
51684	SUFU	HP:0005462	Calcification of falx cerebri	HP:0040282	ORPHA:377
51684	SUFU	HP:0005462	Calcification of falx cerebri	2/4	OMIM:620343
51684	SUFU	HP:0012505	Enlarged pituitary gland	HP:0040283	ORPHA:2495
51684	SUFU	HP:0000518	Cataract	HP:0040283	ORPHA:377
51684	SUFU	HP:0000520	Proptosis	HP:0040284	ORPHA:2495
51684	SUFU	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
51684	SUFU	HP:0000506	Telecanthus	HP:0040283	ORPHA:377
51684	SUFU	HP:0000508	Ptosis	HP:0040283	ORPHA:475
51684	SUFU	HP:0001830	Postaxial foot polydactyly	2/4	OMIM:617757
51684	SUFU	HP:0000501	Glaucoma	HP:0040283	ORPHA:377
51684	SUFU	HP:0030344	Decreased circulating luteinizing hormone level	HP:0040282	ORPHA:2495
51684	SUFU	HP:0030341	Decreased circulating follicle stimulating hormone concentration	HP:0040282	ORPHA:2495
51692	CPSF3	HP:0001270	Motor delay	4/8	OMIM:619876
51692	CPSF3	HP:0001250	Seizure	7/8	OMIM:619876
51692	CPSF3	HP:0001252	Hypotonia	5/8	OMIM:619876
51692	CPSF3	HP:0001249	Intellectual disability	8/8	OMIM:619876
51692	CPSF3	HP:0001263	Global developmental delay	-	OMIM:619876
51692	CPSF3	HP:0001257	Spasticity	3/8	OMIM:619876
51692	CPSF3	HP:0007371	Corpus callosum atrophy	2/5	OMIM:619876
51692	CPSF3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619876
51692	CPSF3	HP:0001320	Cerebellar vermis hypoplasia	1/5	OMIM:619876
51692	CPSF3	HP:0000158	Macroglossia	1/8	OMIM:619876
51692	CPSF3	HP:0002719	Recurrent infections	4/7	OMIM:619876
51692	CPSF3	HP:0002020	Gastroesophageal reflux	3/7	OMIM:619876
51692	CPSF3	HP:0002059	Cerebral atrophy	2/5	OMIM:619876
51692	CPSF3	HP:0002181	Cerebral edema	1/5	OMIM:619876
51692	CPSF3	HP:0003593	Infantile onset	6/8	OMIM:619876
51692	CPSF3	HP:0100704	Cerebral visual impairment	2/8	OMIM:619876
51692	CPSF3	HP:0011968	Feeding difficulties	3/8	OMIM:619876
51692	CPSF3	HP:0007178	Motor polyneuropathy	2/8	OMIM:619876
51692	CPSF3	HP:0000639	Nystagmus	5/8	OMIM:619876
51692	CPSF3	HP:0000648	Optic atrophy	1/8	OMIM:619876
51692	CPSF3	HP:0100021	Cerebral palsy	3/8	OMIM:619876
51692	CPSF3	HP:0011461	Fetal onset	2/8	OMIM:619876
51692	CPSF3	HP:0000276	Long face	2/8	OMIM:619876
51692	CPSF3	HP:0000252	Microcephaly	7/8	OMIM:619876
51692	CPSF3	HP:0000218	High palate	2/8	OMIM:619876
51692	CPSF3	HP:0001558	Decreased fetal movement	2/8	OMIM:619876
51692	CPSF3	HP:0001508	Failure to thrive	2/8	OMIM:619876
51692	CPSF3	HP:0000486	Strabismus	4/8	OMIM:619876
51692	CPSF3	HP:0000463	Anteverted nares	2/8	OMIM:619876
51693	TRAPPC2L	HP:0002445	Tetraplegia	2/2	OMIM:618331
51693	TRAPPC2L	HP:0001250	Seizure	2/2	OMIM:618331
51693	TRAPPC2L	HP:0002540	Inability to walk	2/2	OMIM:618331
51693	TRAPPC2L	HP:0001344	Absent speech	2/2	OMIM:618331
51693	TRAPPC2L	HP:0000007	Autosomal recessive inheritance	-	OMIM:618331
51693	TRAPPC2L	HP:0002059	Cerebral atrophy	1/2	OMIM:618331
51693	TRAPPC2L	HP:0002133	Status epilepticus	2/2	OMIM:618331
51693	TRAPPC2L	HP:0002188	Delayed CNS myelination	2/2	OMIM:618331
51693	TRAPPC2L	HP:0003593	Infantile onset	2/2	OMIM:618331
51693	TRAPPC2L	HP:0100704	Cerebral visual impairment	2/2	OMIM:618331
51693	TRAPPC2L	HP:0002376	Developmental regression	2/2	OMIM:618331
51693	TRAPPC2L	HP:0003676	Progressive	-	OMIM:618331
51693	TRAPPC2L	HP:0011344	Severe global developmental delay	2/2	OMIM:618331
51693	TRAPPC2L	HP:0003236	Elevated circulating creatine kinase concentration	1/2	OMIM:618331
51693	TRAPPC2L	HP:0003201	Rhabdomyolysis	2/2	OMIM:618331
51693	TRAPPC2L	HP:0005484	Secondary microcephaly	2/2	OMIM:618331
51702	PADI3	HP:0002552	Trichodysplasia	HP:0040281	ORPHA:1410
51702	PADI3	HP:0000007	Autosomal recessive inheritance	-	OMIM:191480
51702	PADI3	HP:0002224	Woolly hair	HP:0040281	ORPHA:1410
51702	PADI3	HP:0002235	Pili canaliculi	-	OMIM:191480
51702	PADI3	HP:0002232	Patchy alopecia	HP:0040283	ORPHA:1410
51702	PADI3	HP:0002208	Coarse hair	HP:0040281	ORPHA:1410
51702	PADI3	HP:0011359	Dry hair	-	OMIM:191480
51702	PADI3	HP:0011364	White hair	HP:0040281	ORPHA:1410
51702	PADI3	HP:0011463	Childhood onset	-	OMIM:191480
51702	PADI3	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:1410
51702	PADI3	HP:0030056	Uncombable hair	-	OMIM:191480
51703	ACSL5	HP:0001397	Hepatic steatosis	5/5	OMIM:620357
51703	ACSL5	HP:0000007	Autosomal recessive inheritance	-	OMIM:620357
51703	ACSL5	HP:0002013	Vomiting	5/5	OMIM:620357
51703	ACSL5	HP:0003623	Neonatal onset	5/5	OMIM:620357
51703	ACSL5	HP:0001988	Recurrent hypoglycemia	5/5	OMIM:620357
51703	ACSL5	HP:0003073	Hypoalbuminemia	5/5	OMIM:620357
51703	ACSL5	HP:0001508	Failure to thrive	5/5	OMIM:620357
51703	ACSL5	HP:0005208	Secretory diarrhea	5/5	OMIM:620357
51703	ACSL5	HP:0002910	Elevated circulating hepatic transaminase concentration	5/5	OMIM:620357
51704	GPRC5B	HP:0001270	Motor delay	2/3	OMIM:620447
51704	GPRC5B	HP:0001250	Seizure	3/3	OMIM:620447
51704	GPRC5B	HP:0001260	Dysarthria	3/3	OMIM:620447
51704	GPRC5B	HP:0001257	Spasticity	3/3	OMIM:620447
51704	GPRC5B	HP:0002505	Loss of ambulation	2/2	OMIM:620447
51704	GPRC5B	HP:0001332	Dystonia	1/3	OMIM:620447
51704	GPRC5B	HP:0000006	Autosomal dominant inheritance	-	OMIM:620447
51704	GPRC5B	HP:0002015	Dysphagia	1/3	OMIM:620447
51704	GPRC5B	HP:0002063	Rigidity	1/2	OMIM:620447
51704	GPRC5B	HP:0002061	Lower limb spasticity	3/3	OMIM:620447
51704	GPRC5B	HP:0002070	Limb ataxia	2/3	OMIM:620447
51704	GPRC5B	HP:0003593	Infantile onset	3/3	OMIM:620447
51704	GPRC5B	HP:0002333	Motor deterioration	3/3	OMIM:620447
51704	GPRC5B	HP:6000461	Cerebral subcortical cyst	3/3	OMIM:620447
51704	GPRC5B	HP:0002312	Clumsiness	3/3	OMIM:620447
51704	GPRC5B	HP:0006986	Upper limb spasticity	3/3	OMIM:620447
51704	GPRC5B	HP:0031936	Delayed ability to walk	2/3	OMIM:620447
51704	GPRC5B	HP:0000716	Depression	1/3	OMIM:620447
51704	GPRC5B	HP:0000726	Dementia	3/3	OMIM:620447
51704	GPRC5B	HP:0000256	Macrocephaly	3/3	OMIM:620447
51715	RAB23	HP:0001156	Brachydactyly	HP:0040280	ORPHA:65759
51715	RAB23	HP:0001156	Brachydactyly	-	OMIM:201000
51715	RAB23	HP:0001162	Postaxial hand polydactyly	HP:0040282	ORPHA:65759
51715	RAB23	HP:0001162	Postaxial hand polydactyly	-	OMIM:201000
51715	RAB23	HP:0001159	Syndactyly	HP:0040281	ORPHA:65759
51715	RAB23	HP:0009891	Underdeveloped supraorbital ridges	-	OMIM:201000
51715	RAB23	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
51715	RAB23	HP:0001293	Cranial nerve compression	-	OMIM:131300
51715	RAB23	HP:0001252	Hypotonia	2/7	OMIM:615777
51715	RAB23	HP:0001249	Intellectual disability	HP:0040281	ORPHA:65759
51715	RAB23	HP:0001249	Intellectual disability	-	OMIM:201000
51715	RAB23	HP:0001249	Intellectual disability	5/7	OMIM:615777
51715	RAB23	HP:0001263	Global developmental delay	-	OMIM:615777
51715	RAB23	HP:0006101	Finger syndactyly	HP:0040280	ORPHA:65759
51715	RAB23	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	-	OMIM:201000
51715	RAB23	HP:0002515	Waddling gait	54/102	OMIM:131300
51715	RAB23	HP:0000098	Tall stature	HP:0040281	ORPHA:65759
51715	RAB23	HP:0000072	Hydroureter	-	OMIM:201000
51715	RAB23	HP:0001382	Joint hypermobility	-	OMIM:615777
51715	RAB23	HP:0002676	Cloverleaf skull	HP:0040282	ORPHA:65759
51715	RAB23	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:65759
51715	RAB23	HP:0002694	Sclerosis of skull base	-	OMIM:131300
51715	RAB23	HP:0001357	Plagiocephaly	HP:0040281	ORPHA:65759
51715	RAB23	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:65759
51715	RAB23	HP:0000028	Cryptorchidism	-	OMIM:201000
51715	RAB23	HP:0008897	Postnatal growth retardation	-	OMIM:615777
51715	RAB23	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
51715	RAB23	HP:0001324	Muscle weakness	40/96	OMIM:131300
51715	RAB23	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
51715	RAB23	HP:0002673	Coxa valga	-	OMIM:201000
51715	RAB23	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
51715	RAB23	HP:0000007	Autosomal recessive inheritance	-	OMIM:201000
51715	RAB23	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
51715	RAB23	HP:0002650	Scoliosis	-	OMIM:201000
51715	RAB23	HP:0002650	Scoliosis	12/14	OMIM:131300
51715	RAB23	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
51715	RAB23	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
51715	RAB23	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
51715	RAB23	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
51715	RAB23	HP:0000175	Cleft palate	2/7	OMIM:615777
51715	RAB23	HP:0006349	Agenesis of permanent teeth	-	OMIM:201000
51715	RAB23	HP:0006335	Persistence of primary teeth	-	OMIM:201000
51715	RAB23	HP:0002700	Large foramen magnum	-	OMIM:201000
51715	RAB23	HP:0000126	Hydronephrosis	-	OMIM:201000
51715	RAB23	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:65759
51715	RAB23	HP:0011800	Midface retrusion	-	OMIM:201000
51715	RAB23	HP:0002059	Cerebral atrophy	-	OMIM:201000
51715	RAB23	HP:0003388	Easy fatigability	36/76	OMIM:131300
51715	RAB23	HP:0010442	Polydactyly	HP:0040281	ORPHA:65759
51715	RAB23	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
51715	RAB23	HP:0009473	Joint contracture of the hand	-	OMIM:201000
51715	RAB23	HP:0009608	Complete duplication of proximal phalanx of the thumb	-	OMIM:201000
51715	RAB23	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:65759
51715	RAB23	HP:0003510	Severe short stature	7/7	OMIM:615777
51715	RAB23	HP:0002315	Headache	-	OMIM:131300
51715	RAB23	HP:0004976	Knee dislocation	6/7	OMIM:615777
51715	RAB23	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	-	OMIM:201000
51715	RAB23	HP:0009803	Short phalanx of finger	-	OMIM:615777
51715	RAB23	HP:0009763	Limb pain	63/92	OMIM:131300
51715	RAB23	HP:0003621	Juvenile onset	-	OMIM:131300
51715	RAB23	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
51715	RAB23	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:65759
51715	RAB23	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:201000
51715	RAB23	HP:0010093	Duplication of the proximal phalanx of the hallux	-	OMIM:201000
51715	RAB23	HP:0004279	Short palm	HP:0040281	ORPHA:65759
51715	RAB23	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
51715	RAB23	HP:6001056	Out-toeing	-	OMIM:131300
51715	RAB23	HP:0000651	Diplopia	-	OMIM:131300
51715	RAB23	HP:0000648	Optic atrophy	-	OMIM:201000
51715	RAB23	HP:0001956	Truncal obesity	2/7	OMIM:615777
51715	RAB23	HP:0001903	Anemia	HP:0040283	OMIM:131300
51715	RAB23	HP:0010049	Short metacarpal	-	OMIM:615777
51715	RAB23	HP:0010044	Short 4th metacarpal	HP:0040283	ORPHA:65759
51715	RAB23	HP:0000678	Dental crowding	-	OMIM:615777
51715	RAB23	HP:0000670	Carious teeth	-	OMIM:131300
51715	RAB23	HP:0011304	Broad thumb	2/7	OMIM:615777
51715	RAB23	HP:0011304	Broad thumb	HP:0040282	ORPHA:65759
51715	RAB23	HP:0000668	Hypodontia	-	OMIM:615777
51715	RAB23	HP:0000664	Synophrys	-	OMIM:615777
51715	RAB23	HP:0004322	Short stature	-	OMIM:201000
51715	RAB23	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes	-	OMIM:201000
51715	RAB23	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:65759
51715	RAB23	HP:0004396	Poor appetite	-	OMIM:131300
51715	RAB23	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
51715	RAB23	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
51715	RAB23	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
51715	RAB23	HP:0003026	Short long bone	7/7	OMIM:615777
51715	RAB23	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
51715	RAB23	HP:0000767	Pectus excavatum	2/7	OMIM:615777
51715	RAB23	HP:0000768	Pectus carinatum	1/7	OMIM:615777
51715	RAB23	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
51715	RAB23	HP:0000750	Delayed speech and language development	-	OMIM:615777
51715	RAB23	HP:0011461	Fetal onset	7/7	OMIM:615777
51715	RAB23	HP:0000774	Narrow chest	2/7	OMIM:615777
51715	RAB23	HP:0004443	Lambdoidal craniosynostosis	-	OMIM:201000
51715	RAB23	HP:0004442	Sagittal craniosynostosis	-	OMIM:201000
51715	RAB23	HP:0004440	Coronal craniosynostosis	-	OMIM:201000
51715	RAB23	HP:0000929	Abnormal skull morphology	HP:0040281	ORPHA:65759
51715	RAB23	HP:0000926	Platyspondyly	1/7	OMIM:615777
51715	RAB23	HP:0003182	Shallow acetabular fossae	-	OMIM:201000
51715	RAB23	HP:0003180	Flat acetabular roof	-	OMIM:615777
51715	RAB23	HP:0004482	Relative macrocephaly	-	OMIM:615777
51715	RAB23	HP:0004467	Preauricular pit	-	OMIM:201000
51715	RAB23	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
51715	RAB23	HP:0000826	Precocious puberty	-	OMIM:201000
51715	RAB23	HP:0000823	Delayed puberty	-	OMIM:131300
51715	RAB23	HP:0010275	Pseudoepiphyses of the proximal phalanges of the hand	-	OMIM:201000
51715	RAB23	HP:0000894	Short clavicles	-	OMIM:615777
51715	RAB23	HP:0003241	External genital hypoplasia	-	OMIM:201000
51715	RAB23	HP:0003241	External genital hypoplasia	HP:0040281	ORPHA:65759
51715	RAB23	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
51715	RAB23	HP:0003298	Spina bifida occulta	-	OMIM:201000
51715	RAB23	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
51715	RAB23	HP:0000960	Sacral dimple	-	OMIM:201000
51715	RAB23	HP:0000286	Epicanthus	HP:0040281	ORPHA:65759
51715	RAB23	HP:0000286	Epicanthus	-	OMIM:201000
51715	RAB23	HP:0000286	Epicanthus	1/7	OMIM:615777
51715	RAB23	HP:0000280	Coarse facial features	2/7	OMIM:615777
51715	RAB23	HP:0000263	Oxycephaly	HP:0040281	ORPHA:65759
51715	RAB23	HP:0000262	Turricephaly	HP:0040282	ORPHA:65759
51715	RAB23	HP:0000256	Macrocephaly	HP:0040281	ORPHA:65759
51715	RAB23	HP:0000275	Narrow face	HP:0040281	ORPHA:65759
51715	RAB23	HP:0000272	Malar flattening	-	OMIM:201000
51715	RAB23	HP:0012243	Abnormal reproductive system morphology	HP:0040282	ORPHA:65759
51715	RAB23	HP:0007759	Opacification of the corneal stroma	-	OMIM:201000
51715	RAB23	HP:0002827	Hip dislocation	3/7	OMIM:615777
51715	RAB23	HP:0006397	Lateral displacement of patellae	-	OMIM:201000
51715	RAB23	HP:0000252	Microcephaly	-	OMIM:615777
51715	RAB23	HP:0000248	Brachycephaly	-	OMIM:201000
51715	RAB23	HP:0000218	High palate	-	OMIM:201000
51715	RAB23	HP:0002857	Genu valgum	-	OMIM:131300
51715	RAB23	HP:0002857	Genu valgum	HP:0040282	ORPHA:65759
51715	RAB23	HP:0002857	Genu valgum	-	OMIM:201000
51715	RAB23	HP:0002869	Flared iliac wing	-	OMIM:201000
51715	RAB23	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:65759
51715	RAB23	HP:0001537	Umbilical hernia	-	OMIM:201000
51715	RAB23	HP:0001539	Omphalocele	-	OMIM:201000
51715	RAB23	HP:0001533	Slender build	-	OMIM:131300
51715	RAB23	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
51715	RAB23	HP:0001513	Obesity	HP:0040281	ORPHA:65759
51715	RAB23	HP:0001513	Obesity	-	OMIM:201000
51715	RAB23	HP:0007807	Optic nerve compression	-	OMIM:131300
51715	RAB23	HP:0012385	Camptodactyly	-	OMIM:201000
51715	RAB23	HP:0012368	Flat face	7/7	OMIM:615777
51715	RAB23	HP:0000377	Abnormal pinna morphology	-	OMIM:201000
51715	RAB23	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
51715	RAB23	HP:0000365	Hearing impairment	10/67	OMIM:131300
51715	RAB23	HP:0000369	Low-set ears	-	OMIM:201000
51715	RAB23	HP:0000343	Long philtrum	1/7	OMIM:615777
51715	RAB23	HP:0011001	Increased bone mineral density	-	OMIM:131300
51715	RAB23	HP:0001669	Transposition of the great arteries	-	OMIM:201000
51715	RAB23	HP:0000347	Micrognathia	-	OMIM:201000
51715	RAB23	HP:0000316	Hypertelorism	HP:0040281	ORPHA:65759
51715	RAB23	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:65759
51715	RAB23	HP:0001643	Patent ductus arteriosus	-	OMIM:201000
51715	RAB23	HP:0000311	Round face	2/7	OMIM:615777
51715	RAB23	HP:0001642	Pulmonic stenosis	-	OMIM:201000
51715	RAB23	HP:0000327	Hypoplasia of the maxilla	-	OMIM:201000
51715	RAB23	HP:0001629	Ventricular septal defect	-	OMIM:201000
51715	RAB23	HP:0002970	Genu varum	-	OMIM:201000
51715	RAB23	HP:0002970	Genu varum	-	OMIM:615777
51715	RAB23	HP:0001636	Tetralogy of Fallot	-	OMIM:201000
51715	RAB23	HP:0001631	Atrial septal defect	-	OMIM:201000
51715	RAB23	HP:0000303	Mandibular prognathia	-	OMIM:131300
51715	RAB23	HP:0000407	Sensorineural hearing impairment	-	OMIM:201000
51715	RAB23	HP:0000405	Conductive hearing impairment	-	OMIM:201000
51715	RAB23	HP:0005280	Depressed nasal bridge	-	OMIM:201000
51715	RAB23	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
51715	RAB23	HP:0000486	Strabismus	HP:0040282	ORPHA:65759
51715	RAB23	HP:0000482	Microcornea	-	OMIM:201000
51715	RAB23	HP:0000481	Abnormal cornea morphology	HP:0040282	ORPHA:65759
51715	RAB23	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:65759
51715	RAB23	HP:0000470	Short neck	-	OMIM:201000
51715	RAB23	HP:0000470	Short neck	1/7	OMIM:615777
51715	RAB23	HP:0001770	Toe syndactyly	HP:0040280	ORPHA:65759
51715	RAB23	HP:0001770	Toe syndactyly	-	OMIM:201000
51715	RAB23	HP:0001769	Broad foot	HP:0040283	OMIM:615777
51715	RAB23	HP:0001763	Pes planus	1/7	OMIM:615777
51715	RAB23	HP:0000445	Wide nose	HP:0040282	ORPHA:65759
51715	RAB23	HP:0001748	Polysplenia	-	OMIM:201000
51715	RAB23	HP:0001748	Polysplenia	HP:0040283	ORPHA:65759
51715	RAB23	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:65759
51715	RAB23	HP:0005487	Prominent metopic ridge	HP:0040281	ORPHA:65759
51715	RAB23	HP:0001841	Preaxial foot polydactyly	-	OMIM:201000
51715	RAB23	HP:0001841	Preaxial foot polydactyly	HP:0040282	ORPHA:65759
51715	RAB23	HP:0001840	Metatarsus adductus	-	OMIM:201000
51715	RAB23	HP:0001840	Metatarsus adductus	-	OMIM:615777
51715	RAB23	HP:0000520	Proptosis	2/4	OMIM:131300
51715	RAB23	HP:0000520	Proptosis	7/7	OMIM:615777
51715	RAB23	HP:0000506	Telecanthus	-	OMIM:201000
51715	RAB23	HP:0004097	Deviation of finger	-	OMIM:201000
51715	RAB23	HP:0000592	Blue sclerae	2/7	OMIM:615777
51715	RAB23	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
51715	RAB23	HP:0012514	Lower limb pain	4/4	OMIM:131300
51726	DNAJB11	HP:0003774	Stage 5 chronic kidney disease	7/23	OMIM:618061
51726	DNAJB11	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:730
51726	DNAJB11	HP:0008672	Calcium oxalate nephrolithiasis	HP:0040283	ORPHA:730
51726	DNAJB11	HP:0000083	Renal insufficiency	-	OMIM:618061
51726	DNAJB11	HP:0000083	Renal insufficiency	HP:0040281	ORPHA:730
51726	DNAJB11	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:730
51726	DNAJB11	HP:0000006	Autosomal dominant inheritance	-	OMIM:618061
51726	DNAJB11	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:730
51726	DNAJB11	HP:0000113	Polycystic kidney dysplasia	20/21	OMIM:618061
51726	DNAJB11	HP:0000107	Renal cyst	HP:0040281	ORPHA:730
51726	DNAJB11	HP:0000105	Enlarged kidney	HP:0040283	ORPHA:730
51726	DNAJB11	HP:0001407	Hepatic cysts	9/20	OMIM:618061
51726	DNAJB11	HP:0001407	Hepatic cysts	HP:0040281	ORPHA:730
51726	DNAJB11	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040284	ORPHA:730
51726	DNAJB11	HP:0100702	Arachnoid cyst	HP:0040283	ORPHA:730
51726	DNAJB11	HP:0003581	Adult onset	22/22	OMIM:618061
51726	DNAJB11	HP:0003676	Progressive	-	OMIM:618061
51726	DNAJB11	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:730
51726	DNAJB11	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:730
51726	DNAJB11	HP:0001997	Gout	2/23	OMIM:618061
51726	DNAJB11	HP:0000791	Uric acid nephrolithiasis	HP:0040283	ORPHA:730
51726	DNAJB11	HP:0000790	Hematuria	HP:0040282	ORPHA:730
51726	DNAJB11	HP:0000822	Hypertension	11/20	OMIM:618061
51726	DNAJB11	HP:0000822	Hypertension	HP:0040282	ORPHA:730
51726	DNAJB11	HP:0003259	Elevated circulating creatinine concentration	HP:0040281	ORPHA:730
51726	DNAJB11	HP:0012213	Decreased glomerular filtration rate	-	OMIM:618061
51726	DNAJB11	HP:0012213	Decreased glomerular filtration rate	HP:0040281	ORPHA:730
51726	DNAJB11	HP:0012207	Reduced sperm motility	HP:0040283	ORPHA:730
51726	DNAJB11	HP:0006557	Polycystic liver disease	HP:0040283	ORPHA:730
51726	DNAJB11	HP:0011004	Abnormal systemic arterial morphology	HP:0040283	ORPHA:730
51726	DNAJB11	HP:0012330	Pyelonephritis	HP:0040283	ORPHA:730
51726	DNAJB11	HP:0030157	Flank pain	HP:0040282	ORPHA:730
51726	DNAJB11	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:730
51726	DNAJB11	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:730
51726	DNAJB11	HP:0012591	Abnormal urinary electrolyte concentration	HP:0040282	ORPHA:730
51726	DNAJB11	HP:0012592	Albuminuria	HP:0040282	ORPHA:730
51728	POLR3K	HP:0001272	Cerebellar atrophy	2/2	OMIM:619310
51728	POLR3K	HP:0001268	Mental deterioration	1/1	OMIM:619310
51728	POLR3K	HP:0001251	Ataxia	2/2	OMIM:619310
51728	POLR3K	HP:0001259	Coma	1/2	OMIM:619310
51728	POLR3K	HP:0007371	Corpus callosum atrophy	2/2	OMIM:619310
51728	POLR3K	HP:0000044	Hypogonadotropic hypogonadism	1/2	OMIM:619310
51728	POLR3K	HP:0025336	Delayed ability to sit	1/2	OMIM:619310
51728	POLR3K	HP:0000028	Cryptorchidism	2/2	OMIM:619310
51728	POLR3K	HP:0008872	Feeding difficulties in infancy	2/2	OMIM:619310
51728	POLR3K	HP:0001332	Dystonia	2/2	OMIM:619310
51728	POLR3K	HP:0001344	Absent speech	1/2	OMIM:619310
51728	POLR3K	HP:0000007	Autosomal recessive inheritance	-	OMIM:619310
51728	POLR3K	HP:0003593	Infantile onset	2/2	OMIM:619310
51728	POLR3K	HP:0002273	Tetraparesis	1/2	OMIM:619310
51728	POLR3K	HP:0100660	Dyskinesia	1/2	OMIM:619310
51728	POLR3K	HP:0002305	Athetosis	1/2	OMIM:619310
51728	POLR3K	HP:0000639	Nystagmus	2/2	OMIM:619310
51728	POLR3K	HP:0000648	Optic atrophy	1/2	OMIM:619310
51728	POLR3K	HP:0001946	Ketosis	1/2	OMIM:619310
51728	POLR3K	HP:0000668	Hypodontia	1/2	OMIM:619310
51728	POLR3K	HP:0000750	Delayed speech and language development	1/2	OMIM:619310
51728	POLR3K	HP:0033044	Motor regression	2/2	OMIM:619310
51728	POLR3K	HP:0000252	Microcephaly	2/2	OMIM:619310
51728	POLR3K	HP:0001508	Failure to thrive	2/2	OMIM:619310
51728	POLR3K	HP:0001510	Growth delay	2/2	OMIM:619310
51729	WBP11	HP:0001263	Global developmental delay	3/9	OMIM:619227
51729	WBP11	HP:0002575	Tracheoesophageal fistula	6/12	OMIM:619227
51729	WBP11	HP:0001357	Plagiocephaly	1/11	OMIM:619227
51729	WBP11	HP:0000006	Autosomal dominant inheritance	-	OMIM:619227
51729	WBP11	HP:0000176	Submucous cleft hard palate	1/11	OMIM:619227
51729	WBP11	HP:0000122	Unilateral renal agenesis	1/9	OMIM:619227
51729	WBP11	HP:0000104	Renal agenesis	2/9	OMIM:619227
51729	WBP11	HP:0002032	Esophageal atresia	6/12	OMIM:619227
51729	WBP11	HP:0003316	Butterfly vertebrae	3/6	OMIM:619227
51729	WBP11	HP:0002162	Low posterior hairline	1/11	OMIM:619227
51729	WBP11	HP:0002247	Duodenal atresia	2/12	OMIM:619227
51729	WBP11	HP:0007018	Attention deficit hyperactivity disorder	2/9	OMIM:619227
51729	WBP11	HP:0004322	Short stature	3/11	OMIM:619227
51729	WBP11	HP:0000767	Pectus excavatum	1/7	OMIM:619227
51729	WBP11	HP:0000912	Sprengel anomaly	4/9	OMIM:619227
51729	WBP11	HP:0004467	Preauricular pit	1/11	OMIM:619227
51729	WBP11	HP:0003298	Spina bifida occulta	1/6	OMIM:619227
51729	WBP11	HP:0000998	Hypertrichosis	1/9	OMIM:619227
51729	WBP11	HP:0011623	Muscular ventricular septal defect	2/11	OMIM:619227
51729	WBP11	HP:0000957	Cafe-au-lait spot	1/9	OMIM:619227
51729	WBP11	HP:0000278	Retrognathia	1/11	OMIM:619227
51729	WBP11	HP:0000252	Microcephaly	1/9	OMIM:619227
51729	WBP11	HP:0000384	Preauricular skin tag	1/11	OMIM:619227
51729	WBP11	HP:0002949	Fused cervical vertebrae	2/6	OMIM:619227
51729	WBP11	HP:0000369	Low-set ears	1/11	OMIM:619227
51729	WBP11	HP:0000337	Broad forehead	1/11	OMIM:619227
51729	WBP11	HP:0000465	Webbed neck	1/11	OMIM:619227
51729	WBP11	HP:0000453	Choanal atresia	1/11	OMIM:619227
51729	WBP11	HP:0000445	Wide nose	1/11	OMIM:619227
51733	UPB1	HP:6000534	Elevated urinary ureidopropionic acid level	1/1	OMIM:613161
51733	UPB1	HP:0001270	Motor delay	1/4	OMIM:613161
51733	UPB1	HP:6000623	Elevated urinary N-carbamyl-beta-aminoisobutyric acid level	-	OMIM:613161
51733	UPB1	HP:6000622	Elevated urinary ureidoisobutyric acid level	-	OMIM:613161
51733	UPB1	HP:0001250	Seizure	1/4	OMIM:613161
51733	UPB1	HP:0001252	Hypotonia	1/4	OMIM:613161
51733	UPB1	HP:0001249	Intellectual disability	1/4	OMIM:613161
51733	UPB1	HP:0001263	Global developmental delay	2/4	OMIM:613161
51733	UPB1	HP:6000696	Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration	4/4	OMIM:613161
51733	UPB1	HP:0002521	Hypsarrhythmia	1/4	OMIM:613161
51733	UPB1	HP:0000048	Bifid scrotum	-	OMIM:613161
51733	UPB1	HP:0001332	Dystonia	1/4	OMIM:613161
51733	UPB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613161
51733	UPB1	HP:0002650	Scoliosis	1/4	OMIM:613161
51733	UPB1	HP:0001319	Neonatal hypotonia	-	OMIM:613161
51733	UPB1	HP:0002023	Anal atresia	-	OMIM:613161
51733	UPB1	HP:0002151	Increased circulating lactate concentration	1/4	OMIM:613161
51733	UPB1	HP:0002133	Status epilepticus	1/4	OMIM:613161
51733	UPB1	HP:6000209	Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration	-	OMIM:613161
51733	UPB1	HP:6000210	Elevated CSF N-carbamyl-beta-alanine concentration	-	OMIM:613161
51733	UPB1	HP:0002188	Delayed CNS myelination	1/4	OMIM:613161
51733	UPB1	HP:0002167	Abnormal speech pattern	-	OMIM:613161
51733	UPB1	HP:0034595	Elevated circulating N-carbamoyl-beta-alanine concentration	-	OMIM:613161
51733	UPB1	HP:0003593	Infantile onset	4/4	OMIM:613161
51733	UPB1	HP:0007185	Loss of consciousness	1/4	OMIM:613161
51733	UPB1	HP:0001942	Metabolic acidosis	1/4	OMIM:613161
51733	UPB1	HP:6000082	Reduced hepatic beta-ureidopropionase activity	4/4	OMIM:613161
51733	UPB1	HP:0000252	Microcephaly	-	OMIM:613161
51733	UPB1	HP:0002836	Bladder exstrophy	-	OMIM:613161
51738	GHRL	HP:0010982	Polygenic inheritance	-	OMIM:601665
51738	GHRL	HP:0000007	Autosomal recessive inheritance	-	OMIM:601665
51738	GHRL	HP:0000006	Autosomal dominant inheritance	-	OMIM:601665
51738	GHRL	HP:0031819	Increased waist to hip ratio	-	OMIM:601665
51738	GHRL	HP:0001513	Obesity	-	OMIM:601665
51738	GHRL	HP:0012340	Decreased resting energy expenditure	-	OMIM:601665
51741	WWOX	HP:0001188	Hand clenching	1/1	OMIM:616211
51741	WWOX	HP:0009909	Uplifted earlobe	4/20	OMIM:616211
51741	WWOX	HP:0010880	Increased nuchal translucency	3/5	OMIM:616211
51741	WWOX	HP:0009879	Simplified gyral pattern	1/1	OMIM:616211
51741	WWOX	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
51741	WWOX	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
51741	WWOX	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
51741	WWOX	HP:0001272	Cerebellar atrophy	-	OMIM:614322
51741	WWOX	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
51741	WWOX	HP:0001270	Motor delay	HP:0040281	ORPHA:284282
51741	WWOX	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
51741	WWOX	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
51741	WWOX	HP:0001250	Seizure	HP:0040282	ORPHA:442835
51741	WWOX	HP:0001250	Seizure	2/2	OMIM:616211
51741	WWOX	HP:0001251	Ataxia	6/6	OMIM:614322
51741	WWOX	HP:0001251	Ataxia	0/6	OMIM:616211
51741	WWOX	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
51741	WWOX	HP:0001249	Intellectual disability	6/6	OMIM:614322
51741	WWOX	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
51741	WWOX	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
51741	WWOX	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:284282
51741	WWOX	HP:0001265	Hyporeflexia	14/14	OMIM:614322
51741	WWOX	HP:0001260	Dysarthria	HP:0040281	ORPHA:284282
51741	WWOX	HP:0001260	Dysarthria	14/14	OMIM:614322
51741	WWOX	HP:0001263	Global developmental delay	16/16	OMIM:614322
51741	WWOX	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
51741	WWOX	HP:0001263	Global developmental delay	27/27	OMIM:616211
51741	WWOX	HP:0001257	Spasticity	13/19	OMIM:616211
51741	WWOX	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
51741	WWOX	HP:0001257	Spasticity	2/2	OMIM:614322
51741	WWOX	HP:0008726	Hypoplasia of the vagina	HP:0040281	ORPHA:251510
51741	WWOX	HP:0008730	Female external genitalia in individual with 46,XY karyotype	HP:0040281	ORPHA:251510
51741	WWOX	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:251510
51741	WWOX	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:251510
51741	WWOX	HP:0007334	Bilateral tonic-clonic seizure with focal onset	6/26	OMIM:616211
51741	WWOX	HP:0008665	Clitoral hypertrophy	HP:0040281	ORPHA:251510
51741	WWOX	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
51741	WWOX	HP:0002514	Cerebral calcification	1/1	OMIM:616211
51741	WWOX	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
51741	WWOX	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:251510
51741	WWOX	HP:0000058	Abnormal labia morphology	HP:0040281	ORPHA:251510
51741	WWOX	HP:0000045	Abnormal scrotum morphology	HP:0040281	ORPHA:251510
51741	WWOX	HP:0000054	Micropenis	HP:0040281	ORPHA:251510
51741	WWOX	HP:0000047	Hypospadias	HP:0040281	ORPHA:251510
51741	WWOX	HP:0001347	Hyperreflexia	4/7	OMIM:616211
51741	WWOX	HP:0000030	Testicular gonadoblastoma	HP:0040283	ORPHA:251510
51741	WWOX	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:251510
51741	WWOX	HP:0000027	Azoospermia	HP:0040281	ORPHA:251510
51741	WWOX	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:99977
51741	WWOX	HP:0033725	Thin corpus callosum	17/25	OMIM:616211
51741	WWOX	HP:0000007	Autosomal recessive inheritance	-	OMIM:616211
51741	WWOX	HP:0000007	Autosomal recessive inheritance	-	OMIM:614322
51741	WWOX	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:251510
51741	WWOX	HP:0001337	Tremor	HP:0040283	ORPHA:442835
51741	WWOX	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
51741	WWOX	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
51741	WWOX	HP:0000142	Abnormal vagina morphology	HP:0040281	ORPHA:251510
51741	WWOX	HP:0000150	Gonadoblastoma	HP:0040282	ORPHA:251510
51741	WWOX	HP:0000149	Ovarian gonadoblastoma	HP:0040283	ORPHA:251510
51741	WWOX	HP:0008936	Axial hypotonia	10/15	OMIM:616211
51741	WWOX	HP:0000133	Gonadal dysgenesis	HP:0040281	ORPHA:251510
51741	WWOX	HP:0000100	Nephrotic syndrome	HP:0040284	ORPHA:251510
51741	WWOX	HP:0001442	Typified by somatic mosaicism	-	OMIM:133239
51741	WWOX	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:251510
51741	WWOX	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:99977
51741	WWOX	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
51741	WWOX	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:99977
51741	WWOX	HP:0002007	Frontal bossing	1/20	OMIM:616211
51741	WWOX	HP:0002069	Bilateral tonic-clonic seizure	5/5	OMIM:616211
51741	WWOX	HP:0002069	Bilateral tonic-clonic seizure	6/6	OMIM:614322
51741	WWOX	HP:0002066	Gait ataxia	HP:0040281	ORPHA:284282
51741	WWOX	HP:0002066	Gait ataxia	14/14	OMIM:614322
51741	WWOX	HP:0002063	Rigidity	2/6	OMIM:616211
51741	WWOX	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
51741	WWOX	HP:0002061	Lower limb spasticity	2/6	OMIM:614322
51741	WWOX	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:616211
51741	WWOX	HP:0002070	Limb ataxia	-	OMIM:614322
51741	WWOX	HP:0002070	Limb ataxia	HP:0040281	ORPHA:284282
51741	WWOX	HP:0002059	Cerebral atrophy	13/27	OMIM:616211
51741	WWOX	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
51741	WWOX	HP:0008193	Primary gonadal insufficiency	HP:0040283	ORPHA:251510
51741	WWOX	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:251510
51741	WWOX	HP:0010464	Streak ovary	HP:0040281	ORPHA:251510
51741	WWOX	HP:0003487	Babinski sign	2/5	OMIM:614322
51741	WWOX	HP:0002121	Generalized non-motor (absence) seizure	2/26	OMIM:616211
51741	WWOX	HP:0002133	Status epilepticus	1/1	OMIM:616211
51741	WWOX	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
51741	WWOX	HP:0002188	Delayed CNS myelination	2/26	OMIM:616211
51741	WWOX	HP:0008232	Elevated circulating follicle stimulating hormone level	HP:0040281	ORPHA:251510
51741	WWOX	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:251510
51741	WWOX	HP:0033258	Sudden unexpected death in epilepsy	3/6	OMIM:616211
51741	WWOX	HP:0002266	Focal clonic seizure	6/26	OMIM:616211
51741	WWOX	HP:0003593	Infantile onset	3/6	OMIM:614322
51741	WWOX	HP:0003593	Infantile onset	15/25	OMIM:616211
51741	WWOX	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
51741	WWOX	HP:0002215	Sparse axillary hair	HP:0040281	ORPHA:251510
51741	WWOX	HP:0002225	Sparse pubic hair	HP:0040281	ORPHA:251510
51741	WWOX	HP:0100779	Urogenital sinus anomaly	HP:0040281	ORPHA:251510
51741	WWOX	HP:0200134	Epileptic encephalopathy	27/27	OMIM:616211
51741	WWOX	HP:0100749	Chest pain	HP:0040282	ORPHA:99977
51741	WWOX	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
51741	WWOX	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
51741	WWOX	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040281	ORPHA:251510
51741	WWOX	HP:0002375	Hypokinesia	20/25	OMIM:616211
51741	WWOX	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
51741	WWOX	HP:0002353	EEG abnormality	24/24	OMIM:616211
51741	WWOX	HP:0002353	EEG abnormality	4/4	OMIM:614322
51741	WWOX	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
51741	WWOX	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
51741	WWOX	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
51741	WWOX	HP:0003623	Neonatal onset	10/24	OMIM:616211
51741	WWOX	HP:0006855	Cerebellar vermis atrophy	2/2	OMIM:614322
51741	WWOX	HP:0000640	Gaze-evoked nystagmus	16/16	OMIM:614322
51741	WWOX	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
51741	WWOX	HP:0000639	Nystagmus	HP:0040281	ORPHA:284282
51741	WWOX	HP:0000648	Optic atrophy	4/22	OMIM:616211
51741	WWOX	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
51741	WWOX	HP:0000648	Optic atrophy	HP:0040283	OMIM:614322
51741	WWOX	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
51741	WWOX	HP:0004322	Short stature	HP:0040283	ORPHA:442835
51741	WWOX	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
51741	WWOX	HP:0030680	Abnormal cardiovascular system morphology	HP:0040284	ORPHA:251510
51741	WWOX	HP:0000771	Gynecomastia	HP:0040281	ORPHA:251510
51741	WWOX	HP:0012735	Cough	HP:0040282	ORPHA:99977
51741	WWOX	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
51741	WWOX	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:284282
51741	WWOX	HP:0000717	Autism	HP:0040283	ORPHA:442835
51741	WWOX	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
51741	WWOX	HP:0011459	Esophageal carcinoma	HP:0040281	ORPHA:99977
51741	WWOX	HP:0011459	Esophageal carcinoma	-	OMIM:133239
51741	WWOX	HP:0011463	Childhood onset	3/6	OMIM:614322
51741	WWOX	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
51741	WWOX	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:251510
51741	WWOX	HP:0012870	Vanishing testis	HP:0040281	ORPHA:251510
51741	WWOX	HP:0000868	Decreased fertility in females	HP:0040281	ORPHA:251510
51741	WWOX	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:251510
51741	WWOX	HP:0000846	Adrenal insufficiency	HP:0040283	ORPHA:251510
51741	WWOX	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:251510
51741	WWOX	HP:0000817	Reduced eye contact	19/25	OMIM:616211
51741	WWOX	HP:0000812	Abnormal internal genitalia	HP:0040281	ORPHA:251510
51741	WWOX	HP:0000823	Delayed puberty	HP:0040282	ORPHA:251510
51741	WWOX	HP:0003251	Male infertility	HP:0040281	ORPHA:251510
51741	WWOX	HP:0000939	Osteoporosis	HP:0040281	ORPHA:251510
51741	WWOX	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:251510
51741	WWOX	HP:0000286	Epicanthus	1/1	OMIM:616211
51741	WWOX	HP:0012244	Abnormal sex determination	HP:0040281	ORPHA:251510
51741	WWOX	HP:0000253	Progressive microcephaly	-	OMIM:616211
51741	WWOX	HP:0000252	Microcephaly	-	OMIM:614322
51741	WWOX	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
51741	WWOX	HP:0000252	Microcephaly	HP:0040283	OMIM:616211
51741	WWOX	HP:0001558	Decreased fetal movement	3/20	OMIM:616211
51741	WWOX	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
51741	WWOX	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
51741	WWOX	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040283	ORPHA:284282
51741	WWOX	HP:0001510	Growth delay	HP:0040283	OMIM:614322
51741	WWOX	HP:0011097	Epileptic spasm	9/26	OMIM:616211
51741	WWOX	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:99977
51741	WWOX	HP:0000341	Narrow forehead	4/21	OMIM:616211
51741	WWOX	HP:0000343	Long philtrum	1/1	OMIM:616211
51741	WWOX	HP:0000348	High forehead	1/1	OMIM:616211
51741	WWOX	HP:0000348	High forehead	HP:0040283	ORPHA:442835
51741	WWOX	HP:0000347	Micrognathia	2/20	OMIM:616211
51741	WWOX	HP:0000311	Round face	4/20	OMIM:616211
51741	WWOX	HP:0011169	Generalized clonic seizure	1/26	OMIM:616211
51741	WWOX	HP:0011167	Focal tonic seizure	3/26	OMIM:616211
51741	WWOX	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
51741	WWOX	HP:0000463	Anteverted nares	3/21	OMIM:616211
51741	WWOX	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
51741	WWOX	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
51741	WWOX	HP:0000470	Short neck	2/20	OMIM:616211
51741	WWOX	HP:0005484	Secondary microcephaly	3/6	OMIM:616211
51741	WWOX	HP:0000512	Abnormal electroretinogram	7/17	OMIM:616211
51741	WWOX	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
51741	WWOX	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
51741	WWOX	HP:0000582	Upslanted palpebral fissure	2/20	OMIM:616211
51741	WWOX	HP:0000592	Blue sclerae	1/1	OMIM:616211
51741	WWOX	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
51741	WWOX	HP:0001864	Clinodactyly of the 5th toe	HP:0040281	ORPHA:99977
51741	WWOX	HP:0000546	Retinal degeneration	1/6	OMIM:616211
51741	WWOX	HP:0000546	Retinal degeneration	HP:0040283	OMIM:614322
51741	WWOX	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
51744	CD244	HP:0001370	Rheumatoid arthritis	-	OMIM:180300
51744	CD244	HP:0001386	Joint swelling	-	OMIM:180300
51744	CD244	HP:0001387	Joint stiffness	-	OMIM:180300
51744	CD244	HP:0006150	Swan neck-like deformities of the fingers	-	OMIM:180300
51744	CD244	HP:0002633	Vasculitis	-	OMIM:180300
51744	CD244	HP:0006252	Interphalangeal joint erosions	-	OMIM:180300
51744	CD244	HP:0003565	Elevated erythrocyte sedimentation rate	-	OMIM:180300
51744	CD244	HP:0001945	Fever	-	OMIM:180300
51744	CD244	HP:0005764	Polyarticular arthritis	-	OMIM:180300
51744	CD244	HP:0033034	Anti-citrullinated protein antibody positivity	-	OMIM:180300
51744	CD244	HP:0012276	Digital flexor tenosynovitis	-	OMIM:180300
51744	CD244	HP:0002829	Arthralgia	-	OMIM:180300
51744	CD244	HP:0012378	Fatigue	-	OMIM:180300
51744	CD244	HP:0002923	Rheumatoid factor positive	-	OMIM:180300
51744	CD244	HP:0001824	Weight loss	-	OMIM:180300
51744	CD244	HP:0011227	Elevated circulating C-reactive protein concentration	-	OMIM:180300
51750	RTEL1	HP:0025175	Honeycomb lung	HP:0040282	ORPHA:2032
51750	RTEL1	HP:0025179	Ground-glass opacification	HP:0040282	ORPHA:2032
51750	RTEL1	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0001276	Hypertonia	HP:0040282	ORPHA:3322
51750	RTEL1	HP:0002583	Colitis	HP:0040283	OMIM:615190
51750	RTEL1	HP:0001251	Ataxia	HP:0040283	ORPHA:3322
51750	RTEL1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3322
51750	RTEL1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:3322
51750	RTEL1	HP:0001263	Global developmental delay	HP:0040281	OMIM:615190
51750	RTEL1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3322
51750	RTEL1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1775
51750	RTEL1	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0007440	Generalized hyperpigmentation	HP:0040282	ORPHA:3322
51750	RTEL1	HP:0007392	Excessive wrinkled skin	HP:0040282	ORPHA:3322
51750	RTEL1	HP:0008661	Urethral stenosis	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:3322
51750	RTEL1	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0003828	Variable expressivity	-	OMIM:615190
51750	RTEL1	HP:0003829	Typified by incomplete penetrance	-	OMIM:616373
51750	RTEL1	HP:0032341	Reduced forced vital capacity	HP:0040282	ORPHA:2032
51750	RTEL1	HP:0032341	Reduced forced vital capacity	10/11	OMIM:616373
51750	RTEL1	HP:0032342	Reduced forced expiratory volume in one second	9/11	OMIM:616373
51750	RTEL1	HP:0001399	Hepatic failure	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0001394	Cirrhosis	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0008897	Postnatal growth retardation	-	OMIM:615190
51750	RTEL1	HP:0025390	Reticular pattern on pulmonary HRCT	HP:0040282	ORPHA:2032
51750	RTEL1	HP:0002664	Neoplasm	HP:0040283	ORPHA:3322
51750	RTEL1	HP:0002664	Neoplasm	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615190
51750	RTEL1	HP:0002665	Lymphoma	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615190
51750	RTEL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616373
51750	RTEL1	HP:0002650	Scoliosis	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:3322
51750	RTEL1	HP:0001321	Cerebellar hypoplasia	HP:0040281	OMIM:615190
51750	RTEL1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0002745	Oral leukoplakia	HP:0040282	ORPHA:3322
51750	RTEL1	HP:0002745	Oral leukoplakia	HP:0040281	ORPHA:1775
51750	RTEL1	HP:0002721	Immunodeficiency	-	OMIM:615190
51750	RTEL1	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:3322
51750	RTEL1	HP:0002024	Malabsorption	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2032
51750	RTEL1	HP:0010444	Pulmonic regurgitation	HP:0040283	ORPHA:2032
51750	RTEL1	HP:0010450	Esophageal stenosis	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0010450	Esophageal stenosis	HP:0040283	OMIM:615190
51750	RTEL1	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:3322
51750	RTEL1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:3322
51750	RTEL1	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:2032
51750	RTEL1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0003581	Adult onset	-	OMIM:616373
51750	RTEL1	HP:0002216	Premature graying of hair	HP:0040282	ORPHA:3322
51750	RTEL1	HP:0002216	Premature graying of hair	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:2032
51750	RTEL1	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:3322
51750	RTEL1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0002206	Pulmonary fibrosis	15/20	OMIM:616373
51750	RTEL1	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:2032
51750	RTEL1	HP:0008404	Nail dystrophy	HP:0040283	OMIM:615190
51750	RTEL1	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:3322
51750	RTEL1	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:1775
51750	RTEL1	HP:0100759	Clubbing of fingers	HP:0040282	ORPHA:2032
51750	RTEL1	HP:0033367	Orthodeoxia	HP:0040283	ORPHA:2032
51750	RTEL1	HP:0010624	Aplastic/hypoplastic toenail	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0001063	Acrocyanosis	HP:0040282	ORPHA:2032
51750	RTEL1	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:1775
51750	RTEL1	HP:0200037	Skin vesicle	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0100670	Coarse metaphyseal trabecularization	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0200042	Skin ulcer	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0005528	Bone marrow hypocellularity	-	OMIM:615190
51750	RTEL1	HP:0005528	Bone marrow hypocellularity	HP:0040283	ORPHA:3322
51750	RTEL1	HP:0005528	Bone marrow hypocellularity	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:3322
51750	RTEL1	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0000600	Abnormality of the pharynx	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0001903	Anemia	HP:0040282	ORPHA:3322
51750	RTEL1	HP:0001903	Anemia	HP:0040281	ORPHA:1775
51750	RTEL1	HP:0011358	Generalized hypopigmentation of hair	HP:0040282	ORPHA:3322
51750	RTEL1	HP:0011364	White hair	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0000679	Taurodontia	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0000670	Carious teeth	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0000668	Hypodontia	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0004322	Short stature	HP:0040281	ORPHA:3322
51750	RTEL1	HP:0004322	Short stature	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:3322
51750	RTEL1	HP:0031950	Usual interstitial pneumonia	HP:0040282	ORPHA:2032
51750	RTEL1	HP:0031950	Usual interstitial pneumonia	-	OMIM:616373
51750	RTEL1	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:615190
51750	RTEL1	HP:0012735	Cough	HP:0040282	ORPHA:2032
51750	RTEL1	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0012733	Macule	HP:0040281	ORPHA:1775
51750	RTEL1	HP:0000704	Periodontitis	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0045051	Decreased DLCO	7/7	OMIM:616373
51750	RTEL1	HP:0045051	Decreased DLCO	HP:0040282	ORPHA:2032
51750	RTEL1	HP:0030830	Crackles	HP:0040282	ORPHA:2032
51750	RTEL1	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0008070	Sparse hair	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:1775
51750	RTEL1	HP:0001596	Alopecia	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0031413	Short telomere length	-	OMIM:616373
51750	RTEL1	HP:0000252	Microcephaly	-	OMIM:615190
51750	RTEL1	HP:0000252	Microcephaly	HP:0040281	ORPHA:3322
51750	RTEL1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:2032
51750	RTEL1	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:3322
51750	RTEL1	HP:0001511	Intrauterine growth retardation	-	OMIM:615190
51750	RTEL1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3322
51750	RTEL1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0012378	Fatigue	HP:0040282	ORPHA:2032
51750	RTEL1	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040281	ORPHA:2032
51750	RTEL1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0031631	Subpleural honeycombing	HP:0040282	ORPHA:2032
51750	RTEL1	HP:0000499	Abnormal eyelash morphology	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0000498	Blepharitis	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0005374	Cellular immunodeficiency	HP:0040282	ORPHA:1775
51750	RTEL1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0000518	Cataract	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0000534	Abnormal eyebrow morphology	HP:0040283	ORPHA:1775
51750	RTEL1	HP:0001881	Abnormal leukocyte morphology	HP:0040283	ORPHA:3322
51750	RTEL1	HP:0001882	Decreased total leukocyte count	-	OMIM:615190
51750	RTEL1	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:1775
51750	RTEL1	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:3322
51750	RTEL1	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:1775
51752	ERAP1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:117
51752	ERAP1	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:117
51752	ERAP1	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:117
51752	ERAP1	HP:0001269	Hemiparesis	HP:0040282	ORPHA:117
51752	ERAP1	HP:0001287	Meningitis	HP:0040281	ORPHA:117
51752	ERAP1	HP:0001289	Confusion	HP:0040282	ORPHA:117
51752	ERAP1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:117
51752	ERAP1	HP:0001250	Seizure	HP:0040283	ORPHA:117
51752	ERAP1	HP:0001251	Ataxia	HP:0040283	ORPHA:117
51752	ERAP1	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:117
51752	ERAP1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:117
51752	ERAP1	HP:0000099	Glomerulonephritis	HP:0040284	ORPHA:117
51752	ERAP1	HP:0001369	Arthritis	HP:0040281	ORPHA:117
51752	ERAP1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:117
51752	ERAP1	HP:0000031	Epididymitis	HP:0040283	ORPHA:117
51752	ERAP1	HP:0002638	Superficial thrombophlebitis	HP:0040282	ORPHA:117
51752	ERAP1	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:117
51752	ERAP1	HP:0002633	Vasculitis	HP:0040281	ORPHA:117
51752	ERAP1	HP:0000155	Oral ulcer	HP:0040281	ORPHA:117
51752	ERAP1	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:117
51752	ERAP1	HP:0012121	Panuveitis	HP:0040282	ORPHA:117
51752	ERAP1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:117
51752	ERAP1	HP:0002024	Malabsorption	HP:0040283	ORPHA:117
51752	ERAP1	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:117
51752	ERAP1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:117
51752	ERAP1	HP:0003326	Myalgia	HP:0040281	ORPHA:117
51752	ERAP1	HP:0002014	Diarrhea	HP:0040284	ORPHA:117
51752	ERAP1	HP:0002076	Migraine	HP:0040281	ORPHA:117
51752	ERAP1	HP:0002039	Anorexia	HP:0040283	ORPHA:117
51752	ERAP1	HP:0100584	Endocarditis	HP:0040283	ORPHA:117
51752	ERAP1	HP:0002102	Pleuritis	HP:0040283	ORPHA:117
51752	ERAP1	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:117
51752	ERAP1	HP:0002105	Hemoptysis	HP:0040283	ORPHA:117
51752	ERAP1	HP:0003401	Paresthesia	HP:0040283	ORPHA:117
51752	ERAP1	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:117
51752	ERAP1	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:117
51752	ERAP1	HP:0002202	Pleural effusion	HP:0040283	ORPHA:117
51752	ERAP1	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:117
51752	ERAP1	HP:0100796	Orchitis	HP:0040281	ORPHA:117
51752	ERAP1	HP:0100758	Gangrene	HP:0040283	ORPHA:117
51752	ERAP1	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:117
51752	ERAP1	HP:0001061	Acne	HP:0040282	ORPHA:117
51752	ERAP1	HP:0002376	Developmental regression	HP:0040283	ORPHA:117
51752	ERAP1	HP:0002354	Memory impairment	HP:0040283	ORPHA:117
51752	ERAP1	HP:0002321	Vertigo	HP:0040283	ORPHA:117
51752	ERAP1	HP:0002315	Headache	HP:0040282	ORPHA:117
51752	ERAP1	HP:0100653	Optic neuritis	HP:0040283	ORPHA:117
51752	ERAP1	HP:0100654	Retrobulbar optic neuritis	HP:0040283	ORPHA:117
51752	ERAP1	HP:0200034	Papule	HP:0040281	ORPHA:117
51752	ERAP1	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:117
51752	ERAP1	HP:0100614	Myositis	HP:0040283	ORPHA:117
51752	ERAP1	HP:0200039	Pustule	HP:0040282	ORPHA:117
51752	ERAP1	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:117
51752	ERAP1	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:117
51752	ERAP1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:117
51752	ERAP1	HP:4000041	AA amyloidosis	HP:0040283	ORPHA:117
51752	ERAP1	HP:0000618	Blindness	HP:0040283	ORPHA:117
51752	ERAP1	HP:0000613	Photophobia	HP:0040281	ORPHA:117
51752	ERAP1	HP:0001945	Fever	HP:0040281	ORPHA:117
51752	ERAP1	HP:0001954	Recurrent fever	HP:0040283	ORPHA:117
51752	ERAP1	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:117
51752	ERAP1	HP:0000737	Irritability	HP:0040283	ORPHA:117
51752	ERAP1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:117
51752	ERAP1	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:117
51752	ERAP1	HP:0100326	Immunologic hypersensitivity	HP:0040282	ORPHA:117
51752	ERAP1	HP:0012819	Myocarditis	HP:0040283	ORPHA:117
51752	ERAP1	HP:0003249	Genital ulcers	HP:0040282	ORPHA:117
51752	ERAP1	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:117
51752	ERAP1	HP:0002829	Arthralgia	HP:0040282	ORPHA:117
51752	ERAP1	HP:0025532	Positive pathergy test	HP:0040282	ORPHA:117
51752	ERAP1	HP:0012219	Erythema nodosum	HP:0040282	ORPHA:117
51752	ERAP1	HP:0007813	Nongranulomatous uveitis	HP:0040282	ORPHA:117
51752	ERAP1	HP:0012378	Fatigue	HP:0040281	ORPHA:117
51752	ERAP1	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:117
51752	ERAP1	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:117
51752	ERAP1	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:117
51752	ERAP1	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:117
51752	ERAP1	HP:0001733	Pancreatitis	HP:0040283	ORPHA:117
51752	ERAP1	HP:0001701	Pericarditis	HP:0040283	ORPHA:117
51752	ERAP1	HP:0000488	Retinopathy	HP:0040283	ORPHA:117
51752	ERAP1	HP:0011107	Recurrent aphthous stomatitis	HP:0040281	ORPHA:117
51752	ERAP1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:117
51752	ERAP1	HP:0000518	Cataract	HP:0040283	ORPHA:117
51752	ERAP1	HP:0001824	Weight loss	HP:0040283	ORPHA:117
51752	ERAP1	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:117
51761	ATP8A2	HP:0009878	Cerebellar ataxia associated with quadrupedal gait	-	OMIM:615268
51761	ATP8A2	HP:0001272	Cerebellar atrophy	4/4	OMIM:615268
51761	ATP8A2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1766
51761	ATP8A2	HP:0001250	Seizure	HP:0040282	ORPHA:1766
51761	ATP8A2	HP:0001252	Hypotonia	HP:0040281	ORPHA:1766
51761	ATP8A2	HP:0001251	Ataxia	HP:0040281	ORPHA:1766
51761	ATP8A2	HP:0001249	Intellectual disability	4/4	OMIM:615268
51761	ATP8A2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1766
51761	ATP8A2	HP:0001260	Dysarthria	4/4	OMIM:615268
51761	ATP8A2	HP:0007371	Corpus callosum atrophy	4/4	OMIM:615268
51761	ATP8A2	HP:0002540	Inability to walk	1/4	OMIM:615268
51761	ATP8A2	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:1766
51761	ATP8A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615268
51761	ATP8A2	HP:0002078	Truncal ataxia	4/4	OMIM:615268
51761	ATP8A2	HP:0002120	Cerebral cortical atrophy	4/4	OMIM:615268
51761	ATP8A2	HP:0003577	Congenital onset	-	OMIM:615268
51761	ATP8A2	HP:0004322	Short stature	HP:0040282	ORPHA:1766
51761	ATP8A2	HP:0100021	Cerebral palsy	HP:0040282	ORPHA:1766
51761	ATP8A2	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:1766
51761	ATP8A2	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:1766
51761	ATP8A2	HP:0000486	Strabismus	HP:0040282	ORPHA:1766
51761	ATP8A2	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:1766
51761	ATP8A2	HP:0000518	Cataract	HP:0040283	ORPHA:1766
51761	ATP8A2	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1766
51763	INPP5K	HP:0003701	Proximal muscle weakness	-	OMIM:617404
51763	INPP5K	HP:0001270	Motor delay	11/12	OMIM:617404
51763	INPP5K	HP:0001288	Gait disturbance	-	OMIM:617404
51763	INPP5K	HP:0001250	Seizure	1/12	OMIM:617404
51763	INPP5K	HP:0001252	Hypotonia	11/12	OMIM:617404
51763	INPP5K	HP:0001249	Intellectual disability	-	OMIM:617404
51763	INPP5K	HP:0001263	Global developmental delay	-	OMIM:617404
51763	INPP5K	HP:0000007	Autosomal recessive inheritance	-	OMIM:617404
51763	INPP5K	HP:0002650	Scoliosis	-	OMIM:617404
51763	INPP5K	HP:0003307	Hyperlordosis	-	OMIM:617404
51763	INPP5K	HP:0003306	Spinal rigidity	2/12	OMIM:617404
51763	INPP5K	HP:0002093	Respiratory insufficiency	HP:0040283	OMIM:617404
51763	INPP5K	HP:0002061	Lower limb spasticity	HP:0040283	OMIM:617404
51763	INPP5K	HP:0003391	Gowers sign	-	OMIM:617404
51763	INPP5K	HP:0003593	Infantile onset	1/12	OMIM:617404
51763	INPP5K	HP:0003577	Congenital onset	4/12	OMIM:617404
51763	INPP5K	HP:0003676	Progressive	-	OMIM:617404
51763	INPP5K	HP:0007126	Proximal amyotrophy	-	OMIM:617404
51763	INPP5K	HP:0004322	Short stature	-	OMIM:617404
51763	INPP5K	HP:0011463	Childhood onset	7/12	OMIM:617404
51763	INPP5K	HP:0009126	Increased adipose tissue	-	OMIM:617404
51763	INPP5K	HP:0003236	Elevated circulating creatine kinase concentration	10/10	OMIM:617404
51763	INPP5K	HP:0002808	Kyphosis	2/12	OMIM:617404
51763	INPP5K	HP:0000252	Microcephaly	2/12	OMIM:617404
51763	INPP5K	HP:0030051	Tip-toe gait	-	OMIM:617404
51763	INPP5K	HP:0000486	Strabismus	-	OMIM:617404
51763	INPP5K	HP:0000518	Cataract	12/12	OMIM:617404
51776	MAP3K20	HP:0001171	Split hand	5/5	OMIM:616890
51776	MAP3K20	HP:0002460	Distal muscle weakness	3/5	OMIM:617760
51776	MAP3K20	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040281	ORPHA:488232
51776	MAP3K20	HP:0002421	Poor head control	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0003749	Pelvic girdle muscle weakness	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
51776	MAP3K20	HP:0003701	Proximal muscle weakness	5/5	OMIM:617760
51776	MAP3K20	HP:0001293	Cranial nerve compression	-	OMIM:131300
51776	MAP3K20	HP:0001270	Motor delay	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0001270	Motor delay	3/5	OMIM:617760
51776	MAP3K20	HP:0001284	Areflexia	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0001252	Hypotonia	HP:0040281	ORPHA:2020
51776	MAP3K20	HP:0001252	Hypotonia	3/5	OMIM:617760
51776	MAP3K20	HP:0001252	Hypotonia	2/7	OMIM:615777
51776	MAP3K20	HP:0001249	Intellectual disability	5/7	OMIM:615777
51776	MAP3K20	HP:0001263	Global developmental delay	-	OMIM:615777
51776	MAP3K20	HP:0002515	Waddling gait	54/102	OMIM:131300
51776	MAP3K20	HP:0002515	Waddling gait	1/5	OMIM:617760
51776	MAP3K20	HP:0003805	Rimmed vacuoles	2/4	OMIM:617760
51776	MAP3K20	HP:0003803	Type 1 muscle fiber predominance	4/4	OMIM:617760
51776	MAP3K20	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0001371	Flexion contracture	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0001382	Joint hypermobility	-	OMIM:615777
51776	MAP3K20	HP:0001382	Joint hypermobility	3/5	OMIM:617760
51776	MAP3K20	HP:0002694	Sclerosis of skull base	-	OMIM:131300
51776	MAP3K20	HP:0008897	Postnatal growth retardation	-	OMIM:615777
51776	MAP3K20	HP:0006159	Mesoaxial hand polydactyly	-	OMIM:616890
51776	MAP3K20	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
51776	MAP3K20	HP:0001324	Muscle weakness	40/96	OMIM:131300
51776	MAP3K20	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
51776	MAP3K20	HP:0000007	Autosomal recessive inheritance	-	OMIM:617760
51776	MAP3K20	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
51776	MAP3K20	HP:0000007	Autosomal recessive inheritance	-	OMIM:616890
51776	MAP3K20	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
51776	MAP3K20	HP:0002650	Scoliosis	12/14	OMIM:131300
51776	MAP3K20	HP:0002650	Scoliosis	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0002650	Scoliosis	5/5	OMIM:617760
51776	MAP3K20	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
51776	MAP3K20	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
51776	MAP3K20	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
51776	MAP3K20	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
51776	MAP3K20	HP:0000175	Cleft palate	2/7	OMIM:615777
51776	MAP3K20	HP:0008981	Calf muscle hypertrophy	3/5	OMIM:617760
51776	MAP3K20	HP:0002792	Reduced vital capacity	1/5	OMIM:617760
51776	MAP3K20	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0004692	4-5 toe syndactyly	1/5	OMIM:616890
51776	MAP3K20	HP:0004692	4-5 toe syndactyly	HP:0040282	ORPHA:488232
51776	MAP3K20	HP:0002015	Dysphagia	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0003307	Hyperlordosis	2/5	OMIM:617760
51776	MAP3K20	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:2020
51776	MAP3K20	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0011807	Type 1 muscle fiber atrophy	HP:0040281	ORPHA:2020
51776	MAP3K20	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0003394	Muscle spasm	1/5	OMIM:617760
51776	MAP3K20	HP:0002058	Myopathic facies	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0003388	Easy fatigability	36/76	OMIM:131300
51776	MAP3K20	HP:0003388	Easy fatigability	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0003388	Easy fatigability	1/5	OMIM:617760
51776	MAP3K20	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
51776	MAP3K20	HP:0010413	Aplasia/Hypoplasia of the distal phalanx of the 2nd toe	HP:0040282	ORPHA:488232
51776	MAP3K20	HP:0011842	Abnormal skeletal morphology	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0100483	Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal	HP:0040282	ORPHA:488232
51776	MAP3K20	HP:0003577	Congenital onset	5/5	OMIM:616890
51776	MAP3K20	HP:0003555	Muscle fiber splitting	1/4	OMIM:617760
51776	MAP3K20	HP:0003547	Shoulder girdle muscle weakness	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0004878	Intercostal muscle weakness	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0003557	Increased variability in muscle fiber diameter	4/4	OMIM:617760
51776	MAP3K20	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0010711	1-2 toe syndactyly	HP:0040282	ORPHA:488232
51776	MAP3K20	HP:0010711	1-2 toe syndactyly	1/5	OMIM:616890
51776	MAP3K20	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0003510	Severe short stature	7/7	OMIM:615777
51776	MAP3K20	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0003687	Centrally nucleated skeletal muscle fibers	4/4	OMIM:617760
51776	MAP3K20	HP:0003677	Slowly progressive	-	OMIM:617760
51776	MAP3K20	HP:0002315	Headache	-	OMIM:131300
51776	MAP3K20	HP:0002315	Headache	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0004976	Knee dislocation	6/7	OMIM:615777
51776	MAP3K20	HP:0009803	Short phalanx of finger	-	OMIM:615777
51776	MAP3K20	HP:0009763	Limb pain	63/92	OMIM:131300
51776	MAP3K20	HP:0003621	Juvenile onset	-	OMIM:131300
51776	MAP3K20	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
51776	MAP3K20	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	HP:0040282	ORPHA:488232
51776	MAP3K20	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
51776	MAP3K20	HP:6001056	Out-toeing	-	OMIM:131300
51776	MAP3K20	HP:0000651	Diplopia	-	OMIM:131300
51776	MAP3K20	HP:0001956	Truncal obesity	2/7	OMIM:615777
51776	MAP3K20	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0001903	Anemia	HP:0040283	OMIM:131300
51776	MAP3K20	HP:0010049	Short metacarpal	-	OMIM:615777
51776	MAP3K20	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0000678	Dental crowding	-	OMIM:615777
51776	MAP3K20	HP:0000678	Dental crowding	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0009004	Hypoplasia of the musculature	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0000670	Carious teeth	-	OMIM:131300
51776	MAP3K20	HP:0011304	Broad thumb	2/7	OMIM:615777
51776	MAP3K20	HP:0000668	Hypodontia	-	OMIM:615777
51776	MAP3K20	HP:0000664	Synophrys	-	OMIM:615777
51776	MAP3K20	HP:0004396	Poor appetite	-	OMIM:131300
51776	MAP3K20	HP:0004396	Poor appetite	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
51776	MAP3K20	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
51776	MAP3K20	HP:0004347	Weakness of muscles of respiration	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
51776	MAP3K20	HP:0003026	Short long bone	7/7	OMIM:615777
51776	MAP3K20	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
51776	MAP3K20	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0000767	Pectus excavatum	2/7	OMIM:615777
51776	MAP3K20	HP:0000768	Pectus carinatum	1/7	OMIM:615777
51776	MAP3K20	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
51776	MAP3K20	HP:0000750	Delayed speech and language development	-	OMIM:615777
51776	MAP3K20	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0012785	Flexion contracture of finger	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0011463	Childhood onset	5/5	OMIM:617760
51776	MAP3K20	HP:0011461	Fetal onset	7/7	OMIM:615777
51776	MAP3K20	HP:0010112	Mesoaxial foot polydactyly	HP:0040282	ORPHA:488232
51776	MAP3K20	HP:0000774	Narrow chest	2/7	OMIM:615777
51776	MAP3K20	HP:0005767	1-2 toe complete cutaneous syndactyly	HP:0040282	ORPHA:488232
51776	MAP3K20	HP:0000926	Platyspondyly	1/7	OMIM:615777
51776	MAP3K20	HP:0003180	Flat acetabular roof	-	OMIM:615777
51776	MAP3K20	HP:0004482	Relative macrocephaly	-	OMIM:615777
51776	MAP3K20	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
51776	MAP3K20	HP:0000823	Delayed puberty	-	OMIM:131300
51776	MAP3K20	HP:0000894	Short clavicles	-	OMIM:615777
51776	MAP3K20	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
51776	MAP3K20	HP:0003202	Skeletal muscle atrophy	4/5	OMIM:617760
51776	MAP3K20	HP:0003273	Hip contracture	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
51776	MAP3K20	HP:0010383	Aplasia/Hypoplasia of the phalanges of the 5th toe	HP:0040282	ORPHA:488232
51776	MAP3K20	HP:0100297	Increased endomysial connective tissue	2/4	OMIM:617760
51776	MAP3K20	HP:0010371	Aplasia/Hypoplasia of the phalanges of the 4th toe	HP:0040282	ORPHA:488232
51776	MAP3K20	HP:0010359	Aplasia/Hypoplasia of the phalanges of the 3rd toe	HP:0040282	ORPHA:488232
51776	MAP3K20	HP:0000286	Epicanthus	1/7	OMIM:615777
51776	MAP3K20	HP:0000280	Coarse facial features	2/7	OMIM:615777
51776	MAP3K20	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:488232
51776	MAP3K20	HP:0000276	Long face	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0006466	Ankle flexion contracture	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0006466	Ankle flexion contracture	1/5	OMIM:617760
51776	MAP3K20	HP:0002827	Hip dislocation	3/7	OMIM:615777
51776	MAP3K20	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0000252	Microcephaly	-	OMIM:615777
51776	MAP3K20	HP:0002878	Respiratory failure	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0000218	High palate	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0002857	Genu valgum	-	OMIM:131300
51776	MAP3K20	HP:0001533	Slender build	-	OMIM:131300
51776	MAP3K20	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
51776	MAP3K20	HP:0007807	Optic nerve compression	-	OMIM:131300
51776	MAP3K20	HP:0012378	Fatigue	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0012368	Flat face	7/7	OMIM:615777
51776	MAP3K20	HP:0005216	Impaired mastication	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0001609	Hoarse voice	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
51776	MAP3K20	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0000365	Hearing impairment	10/67	OMIM:131300
51776	MAP3K20	HP:0000343	Long philtrum	1/7	OMIM:615777
51776	MAP3K20	HP:0011001	Increased bone mineral density	-	OMIM:131300
51776	MAP3K20	HP:0000347	Micrognathia	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0001648	Cor pulmonale	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0000311	Round face	2/7	OMIM:615777
51776	MAP3K20	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0002970	Genu varum	-	OMIM:615777
51776	MAP3K20	HP:0000303	Mandibular prognathia	-	OMIM:131300
51776	MAP3K20	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0000407	Sensorineural hearing impairment	4/5	OMIM:616890
51776	MAP3K20	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
51776	MAP3K20	HP:0000470	Short neck	1/7	OMIM:615777
51776	MAP3K20	HP:0001769	Broad foot	HP:0040283	OMIM:615777
51776	MAP3K20	HP:0001763	Pes planus	1/7	OMIM:615777
51776	MAP3K20	HP:0012416	Hypercapnia	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0012418	Hypoxemia	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0001761	Pes cavus	HP:0040283	ORPHA:2020
51776	MAP3K20	HP:0001840	Metatarsus adductus	-	OMIM:615777
51776	MAP3K20	HP:0000520	Proptosis	2/4	OMIM:131300
51776	MAP3K20	HP:0000520	Proptosis	7/7	OMIM:615777
51776	MAP3K20	HP:0001824	Weight loss	HP:0040282	ORPHA:2020
51776	MAP3K20	HP:0001839	Split foot	4/5	OMIM:616890
51776	MAP3K20	HP:0001839	Split foot	HP:0040281	ORPHA:488232
51776	MAP3K20	HP:0000592	Blue sclerae	2/7	OMIM:615777
51776	MAP3K20	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
51776	MAP3K20	HP:0012514	Lower limb pain	4/4	OMIM:131300
51778	MYOZ2	HP:0001279	Syncope	1/8	OMIM:613838
51778	MYOZ2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613838
51778	MYOZ2	HP:0002094	Dyspnea	1/8	OMIM:613838
51778	MYOZ2	HP:0011713	Left bundle branch block	1/8	OMIM:613838
51778	MYOZ2	HP:0004756	Ventricular tachycardia	1/8	OMIM:613838
51778	MYOZ2	HP:0003621	Juvenile onset	1/1	OMIM:613838
51778	MYOZ2	HP:0001962	Palpitations	4/8	OMIM:613838
51778	MYOZ2	HP:0012664	Reduced left ventricular ejection fraction	0/8	OMIM:613838
51778	MYOZ2	HP:0012764	Orthopnea	1/8	OMIM:613838
51778	MYOZ2	HP:0005110	Atrial fibrillation	1/8	OMIM:613838
51778	MYOZ2	HP:0001670	Asymmetric septal hypertrophy	2/8	OMIM:613838
51778	MYOZ2	HP:0001645	Sudden cardiac death	1/8	OMIM:613838
51778	MYOZ2	HP:0001639	Hypertrophic cardiomyopathy	8/8	OMIM:613838
51778	MYOZ2	HP:0001712	Left ventricular hypertrophy	-	OMIM:613838
51780	KDM3B	HP:0001290	Generalized hypotonia	5/13	OMIM:618846
51780	KDM3B	HP:0001270	Motor delay	14/16	OMIM:618846
51780	KDM3B	HP:0001250	Seizure	3/15	OMIM:618846
51780	KDM3B	HP:0001249	Intellectual disability	-	OMIM:618846
51780	KDM3B	HP:0001385	Hip dysplasia	1/16	OMIM:618846
51780	KDM3B	HP:0001382	Joint hypermobility	5/16	OMIM:618846
51780	KDM3B	HP:0000047	Hypospadias	1/8	OMIM:618846
51780	KDM3B	HP:0000023	Inguinal hernia	2/16	OMIM:618846
51780	KDM3B	HP:0000028	Cryptorchidism	1/8	OMIM:618846
51780	KDM3B	HP:0008872	Feeding difficulties in infancy	9/15	OMIM:618846
51780	KDM3B	HP:0000006	Autosomal dominant inheritance	-	OMIM:618846
51780	KDM3B	HP:0000154	Wide mouth	12/17	OMIM:618846
51780	KDM3B	HP:0002171	Gliosis	1/12	OMIM:618846
51780	KDM3B	HP:0002247	Duodenal atresia	1/16	OMIM:618846
51780	KDM3B	HP:0007018	Attention deficit hyperactivity disorder	4/15	OMIM:618846
51780	KDM3B	HP:0007074	Thick corpus callosum	1/12	OMIM:618846
51780	KDM3B	HP:0009765	Low hanging columella	6/17	OMIM:618846
51780	KDM3B	HP:0004322	Short stature	8/16	OMIM:618846
51780	KDM3B	HP:0031936	Delayed ability to walk	5/17	OMIM:618846
51780	KDM3B	HP:0400004	Long ear	9/17	OMIM:618846
51780	KDM3B	HP:0000750	Delayed speech and language development	16/16	OMIM:618846
51780	KDM3B	HP:0000718	Aggressive behavior	1/15	OMIM:618846
51780	KDM3B	HP:0000729	Autistic behavior	3/15	OMIM:618846
51780	KDM3B	HP:0000776	Congenital diaphragmatic hernia	2/16	OMIM:618846
51780	KDM3B	HP:0030853	Heterotaxy	1/16	OMIM:618846
51780	KDM3B	HP:0011671	Interrupted inferior vena cava with azygous continuation	1/16	OMIM:618846
51780	KDM3B	HP:0000219	Thin upper lip vermilion	12/17	OMIM:618846
51780	KDM3B	HP:0001561	Polyhydramnios	1/14	OMIM:618846
51780	KDM3B	HP:0001537	Umbilical hernia	2/16	OMIM:618846
51780	KDM3B	HP:0000365	Hearing impairment	4/17	OMIM:618846
51780	KDM3B	HP:0001629	Ventricular septal defect	1/16	OMIM:618846
51780	KDM3B	HP:0001623	Breech presentation	4/14	OMIM:618846
51780	KDM3B	HP:0000307	Pointed chin	12/17	OMIM:618846
51780	KDM3B	HP:0000455	Broad nasal tip	14/17	OMIM:618846
51807	TUBA8	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:250972
51807	TUBA8	HP:0001250	Seizure	HP:0040281	ORPHA:250972
51807	TUBA8	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:250972
51807	TUBA8	HP:0001344	Absent speech	HP:0040281	ORPHA:250972
51807	TUBA8	HP:0000006	Autosomal dominant inheritance	-	OMIM:619840
51807	TUBA8	HP:0001319	Neonatal hypotonia	HP:0040281	ORPHA:250972
51807	TUBA8	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:250972
51807	TUBA8	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:250972
51807	TUBA8	HP:0002365	Hypoplasia of the brainstem	HP:0040283	ORPHA:250972
51807	TUBA8	HP:0000609	Optic nerve hypoplasia	HP:0040281	ORPHA:250972
51807	TUBA8	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:250972
51807	TUBA8	HP:0006989	Dysplastic corpus callosum	HP:0040283	ORPHA:250972
51807	TUBA8	HP:0000707	Abnormality of the nervous system	HP:0040281	ORPHA:250972
51807	TUBA8	HP:0040185	Macrothrombocytopenia	-	OMIM:619840
51807	TUBA8	HP:0030048	Colpocephaly	HP:0040281	ORPHA:250972
51807	TUBA8	HP:0012469	Infantile spasms	HP:0040283	ORPHA:250972
51816	ADA2	HP:6000562	Reduced circulating adenosine deaminase-2 activity	5/5	OMIM:615688
51816	ADA2	HP:0001123	Visual field defect	HP:0040282	ORPHA:820
51816	ADA2	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
51816	ADA2	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
51816	ADA2	HP:0008551	Microtia	HP:0040284	ORPHA:124
51816	ADA2	HP:0003745	Sporadic	-	OMIM:182410
51816	ADA2	HP:0033505	Livedo reticularis	4/4	OMIM:182410
51816	ADA2	HP:0001297	Stroke	1/1	OMIM:182410
51816	ADA2	HP:0001297	Stroke	12/15	OMIM:615688
51816	ADA2	HP:0001270	Motor delay	HP:0040282	ORPHA:820
51816	ADA2	HP:0001269	Hemiparesis	HP:0040282	ORPHA:820
51816	ADA2	HP:0001268	Mental deterioration	HP:0040282	ORPHA:820
51816	ADA2	HP:0001268	Mental deterioration	-	OMIM:182410
51816	ADA2	HP:0001254	Lethargy	HP:0040282	ORPHA:124
51816	ADA2	HP:0001250	Seizure	HP:0040283	ORPHA:820
51816	ADA2	HP:0001250	Seizure	-	OMIM:182410
51816	ADA2	HP:0001251	Ataxia	-	OMIM:615688
51816	ADA2	HP:0001260	Dysarthria	-	OMIM:182410
51816	ADA2	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
51816	ADA2	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:820
51816	ADA2	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
51816	ADA2	HP:0000093	Proteinuria	HP:0040283	ORPHA:820
51816	ADA2	HP:0025342	Central retinal artery occlusion	HP:0040283	ORPHA:820
51816	ADA2	HP:0025343	Lupus anticoagulant	5/14	OMIM:615688
51816	ADA2	HP:0001369	Arthritis	-	OMIM:615688
51816	ADA2	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
51816	ADA2	HP:0033832	Livedo	1/1	OMIM:182410
51816	ADA2	HP:0001324	Muscle weakness	HP:0040282	ORPHA:820
51816	ADA2	HP:0001342	Cerebral hemorrhage	1/4	OMIM:182410
51816	ADA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:182410
51816	ADA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615688
51816	ADA2	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
51816	ADA2	HP:0001337	Tremor	-	OMIM:182410
51816	ADA2	HP:0001337	Tremor	HP:0040283	ORPHA:820
51816	ADA2	HP:0002633	Vasculitis	7/15	OMIM:615688
51816	ADA2	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
51816	ADA2	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
51816	ADA2	HP:0000155	Oral ulcer	1/1	OMIM:615688
51816	ADA2	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
51816	ADA2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
51816	ADA2	HP:0000112	Nephropathy	HP:0040283	ORPHA:820
51816	ADA2	HP:0001433	Hepatosplenomegaly	1/1	OMIM:615688
51816	ADA2	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
51816	ADA2	HP:0001409	Portal hypertension	1/5	OMIM:615688
51816	ADA2	HP:0002719	Recurrent infections	3/9	OMIM:615688
51816	ADA2	HP:0002716	Lymphadenopathy	4/9	OMIM:615688
51816	ADA2	HP:0002721	Immunodeficiency	7/15	OMIM:615688
51816	ADA2	HP:0002027	Abdominal pain	-	OMIM:615688
51816	ADA2	HP:0003326	Myalgia	11/24	OMIM:615688
51816	ADA2	HP:0100545	Arterial stenosis	HP:0040281	ORPHA:820
51816	ADA2	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:820
51816	ADA2	HP:0002076	Migraine	HP:0040281	ORPHA:820
51816	ADA2	HP:0002072	Chorea	HP:0040283	ORPHA:820
51816	ADA2	HP:6000139	Splinter hemorrhages	HP:0040283	ORPHA:820
51816	ADA2	HP:0002040	Esophageal varix	1/5	OMIM:615688
51816	ADA2	HP:0033126	Cutaneous necrosis	HP:0040283	ORPHA:820
51816	ADA2	HP:0100576	Amaurosis fugax	HP:0040282	ORPHA:820
51816	ADA2	HP:0011714	Libman-Sacks lesions	HP:0040282	ORPHA:820
51816	ADA2	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
51816	ADA2	HP:0002140	Ischemic stroke	2/4	OMIM:182410
51816	ADA2	HP:0002138	Subarachnoid hemorrhage	HP:0040284	ORPHA:820
51816	ADA2	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:820
51816	ADA2	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
51816	ADA2	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:820
51816	ADA2	HP:0033260	Livedo racemosa	11/15	OMIM:615688
51816	ADA2	HP:0033260	Livedo racemosa	3/3	OMIM:182410
51816	ADA2	HP:0033260	Livedo racemosa	HP:0040280	ORPHA:820
51816	ADA2	HP:0033261	Renal artery aneurysm	3/15	OMIM:615688
51816	ADA2	HP:0003593	Infantile onset	5/9	OMIM:615688
51816	ADA2	HP:0003593	Infantile onset	1/1	OMIM:182410
51816	ADA2	HP:0002240	Hepatomegaly	11/14	OMIM:615688
51816	ADA2	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:820
51816	ADA2	HP:0003565	Elevated erythrocyte sedimentation rate	1/1	OMIM:615688
51816	ADA2	HP:0009710	Chilblains	HP:0040283	ORPHA:820
51816	ADA2	HP:0011968	Feeding difficulties	2/9	OMIM:615688
51816	ADA2	HP:0010628	Facial palsy	-	OMIM:182410
51816	ADA2	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
51816	ADA2	HP:0002381	Aphasia	HP:0040283	ORPHA:820
51816	ADA2	HP:0002381	Aphasia	1/1	OMIM:615688
51816	ADA2	HP:0002376	Developmental regression	HP:0040282	ORPHA:820
51816	ADA2	HP:0003676	Progressive	-	OMIM:182410
51816	ADA2	HP:0002354	Memory impairment	HP:0040281	ORPHA:820
51816	ADA2	HP:0002321	Vertigo	HP:0040281	ORPHA:820
51816	ADA2	HP:0002315	Headache	HP:0040281	ORPHA:820
51816	ADA2	HP:0002315	Headache	-	OMIM:182410
51816	ADA2	HP:0002315	Headache	-	OMIM:615688
51816	ADA2	HP:0002326	Transient ischemic attack	HP:0040282	ORPHA:820
51816	ADA2	HP:0100651	Type I diabetes mellitus	1/9	OMIM:615688
51816	ADA2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:820
51816	ADA2	HP:0009830	Peripheral neuropathy	3/24	OMIM:615688
51816	ADA2	HP:0001075	Atrophic scars	3/4	OMIM:182410
51816	ADA2	HP:0200042	Skin ulcer	18/34	OMIM:615688
51816	ADA2	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
51816	ADA2	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282	ORPHA:820
51816	ADA2	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
51816	ADA2	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:820
51816	ADA2	HP:0032154	Aphthous ulcer	5/33	OMIM:615688
51816	ADA2	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
51816	ADA2	HP:0009778	Short thumb	HP:0040283	ORPHA:124
51816	ADA2	HP:0002301	Hemiplegia	-	OMIM:182410
51816	ADA2	HP:0002301	Hemiplegia	-	OMIM:615688
51816	ADA2	HP:0003623	Neonatal onset	1/9	OMIM:615688
51816	ADA2	HP:0003621	Juvenile onset	2/9	OMIM:615688
51816	ADA2	HP:0003613	Antiphospholipid antibody positivity	-	OMIM:182410
51816	ADA2	HP:0003613	Antiphospholipid antibody positivity	HP:0040283	ORPHA:820
51816	ADA2	HP:0020166	Central retinal vein occlusion	HP:0040283	ORPHA:820
51816	ADA2	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
51816	ADA2	HP:0005528	Bone marrow hypocellularity	1/9	OMIM:615688
51816	ADA2	HP:0005523	Lymphoproliferative disorder	3/9	OMIM:615688
51816	ADA2	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
51816	ADA2	HP:5200330	Suicide behaviors	HP:0040283	ORPHA:820
51816	ADA2	HP:0000648	Optic atrophy	1/15	OMIM:615688
51816	ADA2	HP:0001974	Increased total leukocyte count	1/15	OMIM:615688
51816	ADA2	HP:0001945	Fever	13/24	OMIM:615688
51816	ADA2	HP:0001954	Recurrent fever	4/10	OMIM:615688
51816	ADA2	HP:0000602	Ophthalmoplegia	-	OMIM:615688
51816	ADA2	HP:0001903	Anemia	HP:0040283	OMIM:615688
51816	ADA2	HP:0004322	Short stature	HP:0040283	ORPHA:124
51816	ADA2	HP:0004313	Decreased circulating immunoglobulin concentration	6/15	OMIM:615688
51816	ADA2	HP:0031987	Diminished ability to concentrate	HP:0040282	ORPHA:820
51816	ADA2	HP:0006937	Impaired distal tactile sensation	1/1	OMIM:182410
51816	ADA2	HP:0000716	Depression	HP:0040283	ORPHA:820
51816	ADA2	HP:0000713	Agitation	-	OMIM:615688
51816	ADA2	HP:0000726	Dementia	HP:0040282	ORPHA:820
51816	ADA2	HP:0000708	Atypical behavior	HP:0040281	ORPHA:820
51816	ADA2	HP:0011463	Childhood onset	1/9	OMIM:615688
51816	ADA2	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
51816	ADA2	HP:0030746	Intraventricular hemorrhage	HP:0040284	ORPHA:820
51816	ADA2	HP:0030773	Internuclear ophthalmoplegia	HP:0040283	ORPHA:820
51816	ADA2	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
51816	ADA2	HP:0000872	Hashimoto thyroiditis	1/9	OMIM:615688
51816	ADA2	HP:0000822	Hypertension	3/4	OMIM:182410
51816	ADA2	HP:0000822	Hypertension	HP:0040282	ORPHA:820
51816	ADA2	HP:0000822	Hypertension	2/15	OMIM:615688
51816	ADA2	HP:0030880	Raynaud phenomenon	HP:0040283	ORPHA:820
51816	ADA2	HP:0030880	Raynaud phenomenon	12/19	OMIM:615688
51816	ADA2	HP:0000980	Pallor	HP:0040282	ORPHA:124
51816	ADA2	HP:0000979	Purpura	9/24	OMIM:615688
51816	ADA2	HP:0000988	Skin rash	3/9	OMIM:615688
51816	ADA2	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:820
51816	ADA2	HP:0000965	Cutis marmorata	13/19	OMIM:615688
51816	ADA2	HP:0000965	Cutis marmorata	-	OMIM:182410
51816	ADA2	HP:0000964	Eczematoid dermatitis	5/9	OMIM:615688
51816	ADA2	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
51816	ADA2	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
51816	ADA2	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:820
51816	ADA2	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
51816	ADA2	HP:0002829	Arthralgia	3/9	OMIM:615688
51816	ADA2	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
51816	ADA2	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
51816	ADA2	HP:0012219	Erythema nodosum	4/34	OMIM:615688
51816	ADA2	HP:0012213	Decreased glomerular filtration rate	HP:0040282	ORPHA:820
51816	ADA2	HP:0000218	High palate	HP:0040283	ORPHA:124
51816	ADA2	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
51816	ADA2	HP:0002850	Decreased circulating total IgM	1/1	OMIM:182410
51816	ADA2	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
51816	ADA2	HP:0030053	Stiff skin	4/9	OMIM:615688
51816	ADA2	HP:0001510	Growth delay	HP:0040282	ORPHA:124
51816	ADA2	HP:0002910	Elevated circulating hepatic transaminase concentration	5/5	OMIM:615688
51816	ADA2	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
51816	ADA2	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
51816	ADA2	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
51816	ADA2	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:820
51816	ADA2	HP:0001647	Bicuspid aortic valve	1/1	OMIM:182410
51816	ADA2	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
51816	ADA2	HP:0001644	Dilated cardiomyopathy	1/9	OMIM:615688
51816	ADA2	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:820
51816	ADA2	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:820
51816	ADA2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
51816	ADA2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
51816	ADA2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
51816	ADA2	HP:0012490	Panniculitis	-	OMIM:615688
51816	ADA2	HP:0001727	Thromboembolic stroke	HP:0040281	ORPHA:820
51816	ADA2	HP:0000403	Recurrent otitis media	1/1	OMIM:615688
51816	ADA2	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
51816	ADA2	HP:0000486	Strabismus	HP:0040284	ORPHA:124
51816	ADA2	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
51816	ADA2	HP:0000470	Short neck	HP:0040283	ORPHA:124
51816	ADA2	HP:0011108	Recurrent sinusitis	1/1	OMIM:615688
51816	ADA2	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
51816	ADA2	HP:0025722	Cerebral infarct	HP:0040282	ORPHA:820
51816	ADA2	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
51816	ADA2	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
51816	ADA2	HP:0001744	Splenomegaly	13/14	OMIM:615688
51816	ADA2	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
51816	ADA2	HP:0011276	Vascular skin abnormality	HP:0040281	ORPHA:820
51816	ADA2	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
51816	ADA2	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
51816	ADA2	HP:0000508	Ptosis	HP:0040284	ORPHA:124
51816	ADA2	HP:0030351	Urticarial plaque	3/5	OMIM:615688
51816	ADA2	HP:0011227	Elevated circulating C-reactive protein concentration	1/1	OMIM:615688
51816	ADA2	HP:0001894	Thrombocytosis	3/5	OMIM:615688
51816	ADA2	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
51816	ADA2	HP:0001888	Decreased total lymphocyte count	1/1	OMIM:182410
51816	ADA2	HP:0001888	Decreased total lymphocyte count	6/15	OMIM:615688
51816	ADA2	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
51816	ADA2	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
51816	ADA2	HP:0001882	Decreased total leukocyte count	3/6	OMIM:615688
51816	ADA2	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
51816	ADA2	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
51816	ADA2	HP:0001876	Pancytopenia	2/5	OMIM:615688
51816	ADA2	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
53335	BCL11A	HP:0001249	Intellectual disability	10/10	OMIM:617101
53335	BCL11A	HP:0001263	Global developmental delay	10/10	OMIM:617101
53335	BCL11A	HP:0001382	Joint hypermobility	7/8	OMIM:617101
53335	BCL11A	HP:0000006	Autosomal dominant inheritance	-	OMIM:617101
53335	BCL11A	HP:0002027	Abdominal pain	HP:0040283	ORPHA:251380
53335	BCL11A	HP:0011800	Midface retrusion	6/8	OMIM:617101
53335	BCL11A	HP:0002078	Truncal ataxia	1/8	OMIM:617101
53335	BCL11A	HP:0002070	Limb ataxia	1/8	OMIM:617101
53335	BCL11A	HP:0004611	Anterior concavity of thoracic vertebrae	1/9	OMIM:617101
53335	BCL11A	HP:0002136	Broad-based gait	2/8	OMIM:617101
53335	BCL11A	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:251380
53335	BCL11A	HP:0011904	Persistence of hemoglobin F	6/6	OMIM:617101
53335	BCL11A	HP:0011904	Persistence of hemoglobin F	HP:0040280	ORPHA:251380
53335	BCL11A	HP:0003577	Congenital onset	10/10	OMIM:617101
53335	BCL11A	HP:0100716	Self-injurious behavior	1/9	OMIM:617101
53335	BCL11A	HP:0008346	Increased red cell sickling tendency	HP:0040283	ORPHA:251380
53335	BCL11A	HP:0004840	Hypochromic microcytic anemia	HP:0040283	ORPHA:251380
53335	BCL11A	HP:0002360	Sleep abnormality	4/9	OMIM:617101
53335	BCL11A	HP:0032169	Severe infection	HP:0040283	ORPHA:251380
53335	BCL11A	HP:0006855	Cerebellar vermis atrophy	1/6	OMIM:617101
53335	BCL11A	HP:0001923	Reticulocytosis	HP:0040283	ORPHA:251380
53335	BCL11A	HP:0004322	Short stature	2/9	OMIM:617101
53335	BCL11A	HP:0031936	Delayed ability to walk	8/8	OMIM:617101
53335	BCL11A	HP:0100023	Recurrent hand flapping	2/9	OMIM:617101
53335	BCL11A	HP:0000729	Autistic behavior	3/10	OMIM:617101
53335	BCL11A	HP:0045047	HbS hemoglobin	HP:0040282	ORPHA:251380
53335	BCL11A	HP:0034336	Splenic infarction	HP:0040283	ORPHA:251380
53335	BCL11A	HP:0000286	Epicanthus	3/8	OMIM:617101
53335	BCL11A	HP:0000278	Retrognathia	2/9	OMIM:617101
53335	BCL11A	HP:0002829	Arthralgia	HP:0040283	ORPHA:251380
53335	BCL11A	HP:0000252	Microcephaly	5/9	OMIM:617101
53335	BCL11A	HP:0000219	Thin upper lip vermilion	7/8	OMIM:617101
53335	BCL11A	HP:0000232	Everted lower lip vermilion	6/8	OMIM:617101
53335	BCL11A	HP:0000378	Cupped ear	-	OMIM:617101
53335	BCL11A	HP:0000396	Overfolded helix	-	OMIM:617101
53335	BCL11A	HP:0000369	Low-set ears	-	OMIM:617101
53335	BCL11A	HP:0000347	Micrognathia	1/9	OMIM:617101
53335	BCL11A	HP:0005274	Prominent nasal tip	4/8	OMIM:617101
53335	BCL11A	HP:0000486	Strabismus	8/8	OMIM:617101
53335	BCL11A	HP:0000494	Downslanted palpebral fissures	4/8	OMIM:617101
53335	BCL11A	HP:0000488	Retinopathy	HP:0040283	ORPHA:251380
53335	BCL11A	HP:0000463	Anteverted nares	2/8	OMIM:617101
53335	BCL11A	HP:0001746	Asplenia	HP:0040283	ORPHA:251380
53335	BCL11A	HP:0001744	Splenomegaly	HP:0040283	ORPHA:251380
53335	BCL11A	HP:0000592	Blue sclerae	3/9	OMIM:617101
53371	NUP54	HP:0002446	Astrocytosis	HP:0040283	ORPHA:225154
53371	NUP54	HP:0007325	Generalized dystonia	2/3	OMIM:620427
53371	NUP54	HP:0001276	Hypertonia	HP:0040283	ORPHA:225154
53371	NUP54	HP:0001270	Motor delay	3/3	OMIM:620427
53371	NUP54	HP:0001288	Gait disturbance	HP:0040282	ORPHA:225154
53371	NUP54	HP:0001285	Spastic tetraparesis	HP:0040282	ORPHA:225154
53371	NUP54	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:225154
53371	NUP54	HP:0001252	Hypotonia	2/3	OMIM:620427
53371	NUP54	HP:0001251	Ataxia	3/3	OMIM:620427
53371	NUP54	HP:0001251	Ataxia	HP:0040282	ORPHA:225154
53371	NUP54	HP:0001249	Intellectual disability	1/3	OMIM:620427
53371	NUP54	HP:0001266	Choreoathetosis	1/3	OMIM:620427
53371	NUP54	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:225154
53371	NUP54	HP:0001260	Dysarthria	3/3	OMIM:620427
53371	NUP54	HP:0001260	Dysarthria	HP:0040282	ORPHA:225154
53371	NUP54	HP:0001257	Spasticity	HP:0040282	ORPHA:225154
53371	NUP54	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	HP:0040282	ORPHA:225154
53371	NUP54	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:225154
53371	NUP54	HP:0002505	Loss of ambulation	3/3	OMIM:620427
53371	NUP54	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:225154
53371	NUP54	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:225154
53371	NUP54	HP:0001332	Dystonia	HP:0040282	ORPHA:225154
53371	NUP54	HP:0000007	Autosomal recessive inheritance	-	OMIM:620427
53371	NUP54	HP:0001336	Myoclonus	HP:0040283	ORPHA:225154
53371	NUP54	HP:0007688	Undetectable light- and dark-adapted electroretinogram	HP:0040283	ORPHA:225154
53371	NUP54	HP:0008947	Floppy infant	HP:0040282	ORPHA:225154
53371	NUP54	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:225154
53371	NUP54	HP:0002015	Dysphagia	3/3	OMIM:620427
53371	NUP54	HP:0002015	Dysphagia	HP:0040282	ORPHA:225154
53371	NUP54	HP:0002066	Gait ataxia	HP:0040282	ORPHA:225154
53371	NUP54	HP:0002063	Rigidity	HP:0040283	ORPHA:225154
53371	NUP54	HP:0002072	Chorea	1/1	OMIM:620427
53371	NUP54	HP:0003487	Babinski sign	HP:0040282	ORPHA:225154
53371	NUP54	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:225154
53371	NUP54	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:225154
53371	NUP54	HP:0010535	Sleep apnea	1/3	OMIM:620427
53371	NUP54	HP:0002273	Tetraparesis	HP:0040282	ORPHA:225154
53371	NUP54	HP:0002396	Cogwheel rigidity	HP:0040283	ORPHA:225154
53371	NUP54	HP:0002359	Frequent falls	HP:0040283	ORPHA:225154
53371	NUP54	HP:0002376	Developmental regression	HP:0040282	ORPHA:225154
53371	NUP54	HP:0003621	Juvenile onset	1/3	OMIM:620427
53371	NUP54	HP:0000648	Optic atrophy	HP:0040282	ORPHA:225154
53371	NUP54	HP:0012697	Small basal ganglia	HP:0040283	ORPHA:225154
53371	NUP54	HP:0000657	Oculomotor apraxia	1/3	OMIM:620427
53371	NUP54	HP:0031959	Leg dystonia	1/3	OMIM:620427
53371	NUP54	HP:0006999	Basal ganglia gliosis	HP:0040282	ORPHA:225154
53371	NUP54	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:225154
53371	NUP54	HP:0011463	Childhood onset	2/3	OMIM:620427
53371	NUP54	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:225154
53371	NUP54	HP:0000252	Microcephaly	1/3	OMIM:620427
53371	NUP54	HP:0001508	Failure to thrive	HP:0040282	ORPHA:225154
53371	NUP54	HP:0007811	Horizontal pendular nystagmus	HP:0040282	ORPHA:225154
53371	NUP54	HP:0006799	Basal ganglia cysts	HP:0040283	ORPHA:225154
53405	CLIC5	HP:0008568	Vestibular areflexia	2/2	OMIM:616042
53405	CLIC5	HP:0000007	Autosomal recessive inheritance	-	OMIM:616042
53405	CLIC5	HP:0011463	Childhood onset	2/2	OMIM:616042
53405	CLIC5	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:616042
53405	CLIC5	HP:0001751	Abnormal vestibular function	2/2	OMIM:616042
53616	ADAM22	HP:0001290	Generalized hypotonia	1/1	OMIM:617933
53616	ADAM22	HP:0001250	Seizure	1/1	OMIM:617933
53616	ADAM22	HP:0001257	Spasticity	-	OMIM:617933
53616	ADAM22	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/1	OMIM:617933
53616	ADAM22	HP:0002505	Loss of ambulation	1/1	OMIM:617933
53616	ADAM22	HP:0000007	Autosomal recessive inheritance	-	OMIM:617933
53616	ADAM22	HP:0000194	Open mouth	1/1	OMIM:617933
53616	ADAM22	HP:0002059	Cerebral atrophy	1/1	OMIM:617933
53616	ADAM22	HP:0002104	Apnea	1/1	OMIM:617933
53616	ADAM22	HP:0002187	Intellectual disability, profound	1/1	OMIM:617933
53616	ADAM22	HP:0002266	Focal clonic seizure	1/1	OMIM:617933
53616	ADAM22	HP:0003593	Infantile onset	1/1	OMIM:617933
53616	ADAM22	HP:0200134	Epileptic encephalopathy	-	OMIM:617933
53616	ADAM22	HP:0000648	Optic atrophy	1/1	OMIM:617933
53616	ADAM22	HP:0000817	Reduced eye contact	1/1	OMIM:617933
53616	ADAM22	HP:0000218	High palate	1/1	OMIM:617933
53616	ADAM22	HP:0000341	Narrow forehead	1/1	OMIM:617933
53616	ADAM22	HP:0012471	Thick vermilion border	1/1	OMIM:617933
53616	ADAM22	HP:0005484	Secondary microcephaly	1/1	OMIM:617933
53630	BCO1	HP:0000006	Autosomal dominant inheritance	-	OMIM:115300
53630	BCO1	HP:0430074	Increased circulating beta-carotene concentration	1/1	OMIM:115300
53630	BCO1	HP:0004905	Reduced circulating vitamin A concentration	1/1	OMIM:115300
53630	BCO1	HP:0000951	Abnormality of the skin	-	OMIM:115300
53834	FGFRL1	HP:0001177	Preaxial hand polydactyly	HP:0040283	OMIM:194190
53834	FGFRL1	HP:0001171	Split hand	HP:0040283	OMIM:194190
53834	FGFRL1	HP:0009918	Ectopia pupillae	-	OMIM:194190
53834	FGFRL1	HP:0010864	Intellectual disability, severe	-	OMIM:194190
53834	FGFRL1	HP:0003745	Sporadic	-	OMIM:194190
53834	FGFRL1	HP:0001290	Generalized hypotonia	HP:0040281	OMIM:194190
53834	FGFRL1	HP:0001274	Agenesis of corpus callosum	HP:0040283	OMIM:194190
53834	FGFRL1	HP:0001250	Seizure	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0001263	Global developmental delay	HP:0040281	OMIM:194190
53834	FGFRL1	HP:0007385	Aplasia cutis congenita of scalp	HP:0040283	OMIM:194190
53834	FGFRL1	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0001385	Hip dysplasia	HP:0040283	OMIM:194190
53834	FGFRL1	HP:0000047	Hypospadias	50%	OMIM:194190
53834	FGFRL1	HP:0000028	Cryptorchidism	50%	OMIM:194190
53834	FGFRL1	HP:0008850	Severe postnatal growth retardation	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0001331	Absent septum pellucidum	-	OMIM:194190
53834	FGFRL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:194190
53834	FGFRL1	HP:0002650	Scoliosis	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0000188	Short upper lip	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0000175	Cleft palate	-	OMIM:194190
53834	FGFRL1	HP:0000151	Aplasia of the uterus	HP:0040283	OMIM:194190
53834	FGFRL1	HP:0000119	Abnormality of the genitourinary system	25%	OMIM:194190
53834	FGFRL1	HP:0002750	Delayed skeletal maturation	-	OMIM:194190
53834	FGFRL1	HP:0002714	Downturned corners of mouth	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0002721	Immunodeficiency	69%	OMIM:194190
53834	FGFRL1	HP:0002020	Gastroesophageal reflux	-	OMIM:194190
53834	FGFRL1	HP:0002011	Morphological central nervous system abnormality	33%	OMIM:194190
53834	FGFRL1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0002057	Prominent glabella	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0002144	Tethered cord	HP:0040283	OMIM:194190
53834	FGFRL1	HP:0002119	Ventriculomegaly	-	OMIM:194190
53834	FGFRL1	HP:0004794	Malrotation of small bowel	-	OMIM:194190
53834	FGFRL1	HP:0002162	Low posterior hairline	-	OMIM:194190
53834	FGFRL1	HP:0011863	Abnormal sternal ossification	-	OMIM:194190
53834	FGFRL1	HP:0002389	Cavum septum pellucidum	-	OMIM:194190
53834	FGFRL1	HP:0001028	Hemangioma	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0002353	EEG abnormality	90%	OMIM:194190
53834	FGFRL1	HP:0001080	Biliary tract abnormality	HP:0040283	OMIM:194190
53834	FGFRL1	HP:0007109	Periventricular cysts	-	OMIM:194190
53834	FGFRL1	HP:0009778	Short thumb	HP:0040283	OMIM:194190
53834	FGFRL1	HP:0000639	Nystagmus	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0000612	Iris coloboma	30%	OMIM:194190
53834	FGFRL1	HP:0000668	Hypodontia	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0004322	Short stature	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0009193	Metacarpal pseudoepiphysis	-	OMIM:194190
53834	FGFRL1	HP:0000733	Motor stereotypy	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0010109	Short hallux	HP:0040283	OMIM:194190
53834	FGFRL1	HP:0003199	Decreased muscle mass	HP:0040281	OMIM:194190
53834	FGFRL1	HP:0000902	Rib fusion	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0004484	Craniofacial asymmetry	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0004467	Preauricular pit	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0000826	Precocious puberty	-	OMIM:194190
53834	FGFRL1	HP:0000954	Single transverse palmar crease	HP:0040283	OMIM:194190
53834	FGFRL1	HP:0000960	Sacral dimple	HP:0040283	OMIM:194190
53834	FGFRL1	HP:0000286	Epicanthus	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0002827	Hip dislocation	-	OMIM:194190
53834	FGFRL1	HP:0002808	Kyphosis	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0000238	Hydrocephalus	HP:0040283	OMIM:194190
53834	FGFRL1	HP:0000252	Microcephaly	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0001558	Decreased fetal movement	-	OMIM:194190
53834	FGFRL1	HP:0000202	Orofacial cleft	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0000204	Cleft upper lip	-	OMIM:194190
53834	FGFRL1	HP:0001508	Failure to thrive	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0001518	Small for gestational age	HP:0040281	OMIM:194190
53834	FGFRL1	HP:0001511	Intrauterine growth retardation	HP:0040281	OMIM:194190
53834	FGFRL1	HP:0001510	Growth delay	HP:0040281	OMIM:194190
53834	FGFRL1	HP:0000384	Preauricular skin tag	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0000377	Abnormal pinna morphology	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0002948	Vertebral fusion	-	OMIM:194190
53834	FGFRL1	HP:0000348	High forehead	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0000347	Micrognathia	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0000316	Hypertelorism	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0002974	Radioulnar synostosis	-	OMIM:194190
53834	FGFRL1	HP:0000322	Short philtrum	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0001629	Ventricular septal defect	-	OMIM:194190
53834	FGFRL1	HP:0001631	Atrial septal defect	27%	OMIM:194190
53834	FGFRL1	HP:0006655	Rib segmentation abnormalities	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0000407	Sensorineural hearing impairment	15%	OMIM:194190
53834	FGFRL1	HP:0000405	Conductive hearing impairment	40%	OMIM:194190
53834	FGFRL1	HP:0000402	Stenosis of the external auditory canal	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0000486	Strabismus	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0000465	Webbed neck	HP:0040283	OMIM:194190
53834	FGFRL1	HP:0000444	Convex nasal ridge	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0001747	Accessory spleen	-	OMIM:194190
53834	FGFRL1	HP:0001762	Talipes equinovarus	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0000431	Wide nasal bridge	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0001841	Preaxial foot polydactyly	HP:0040283	OMIM:194190
53834	FGFRL1	HP:0001840	Metatarsus adductus	-	OMIM:194190
53834	FGFRL1	HP:0000520	Proptosis	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0000508	Ptosis	HP:0040282	OMIM:194190
53834	FGFRL1	HP:0001812	Hyperconvex fingernails	-	OMIM:194190
53834	FGFRL1	HP:0000558	Rieger anomaly	HP:0040282	OMIM:194190
53904	MYO3A	HP:0000007	Autosomal recessive inheritance	-	OMIM:607101
53904	MYO3A	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:607101
53904	MYO3A	HP:0001730	Progressive hearing impairment	-	OMIM:607101
54014	BRWD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620438
54014	BRWD1	HP:0032558	Absent sperm flagella	3/3	OMIM:620438
54014	BRWD1	HP:0032559	Short sperm flagella	3/3	OMIM:620438
54014	BRWD1	HP:0031245	Productive cough	3/3	OMIM:620438
54014	BRWD1	HP:0002110	Bronchiectasis	3/3	OMIM:620438
54014	BRWD1	HP:0002257	Chronic rhinitis	3/3	OMIM:620438
54014	BRWD1	HP:0002205	Recurrent respiratory infections	3/3	OMIM:620438
54014	BRWD1	HP:0033393	Irregularly shaped sperm tail	3/3	OMIM:620438
54014	BRWD1	HP:0034011	Reduced progressive sperm motility	3/3	OMIM:620438
54014	BRWD1	HP:0011463	Childhood onset	3/3	OMIM:620438
54014	BRWD1	HP:0000798	Oligozoospermia	2/3	OMIM:620438
54014	BRWD1	HP:0003251	Male infertility	3/3	OMIM:620438
54014	BRWD1	HP:0033036	Decreased nasal nitric oxide	1/2	OMIM:620438
54014	BRWD1	HP:0012207	Reduced sperm motility	3/3	OMIM:620438
54014	BRWD1	HP:0001696	Situs inversus totalis	1/3	OMIM:620438
54014	BRWD1	HP:0011108	Recurrent sinusitis	3/3	OMIM:620438
54084	TSPEAR	HP:0000007	Autosomal recessive inheritance	-	OMIM:618180
54084	TSPEAR	HP:0000007	Autosomal recessive inheritance	-	OMIM:620173
54084	TSPEAR	HP:0000007	Autosomal recessive inheritance	-	OMIM:614861
54084	TSPEAR	HP:0003577	Congenital onset	3/3	OMIM:614861
54084	TSPEAR	HP:0002209	Sparse scalp hair	5/5	OMIM:618180
54084	TSPEAR	HP:0010763	Low insertion of columella	5/5	OMIM:618180
54084	TSPEAR	HP:0000698	Conical tooth	5/5	OMIM:618180
54084	TSPEAR	HP:0000677	Oligodontia	4/4	OMIM:620173
54084	TSPEAR	HP:0000668	Hypodontia	5/5	OMIM:618180
54084	TSPEAR	HP:0000966	Hypohidrosis	4/5	OMIM:618180
54084	TSPEAR	HP:0000252	Microcephaly	1/4	OMIM:620173
54084	TSPEAR	HP:0000218	High palate	1/4	OMIM:620173
54084	TSPEAR	HP:0000364	Hearing abnormality	0/5	OMIM:618180
54084	TSPEAR	HP:0000369	Low-set ears	1/4	OMIM:620173
54084	TSPEAR	HP:0000341	Narrow forehead	1/4	OMIM:620173
54084	TSPEAR	HP:0000300	Oval face	5/5	OMIM:618180
54084	TSPEAR	HP:0000407	Sensorineural hearing impairment	3/3	OMIM:614861
54084	TSPEAR	HP:0012471	Thick vermilion border	5/5	OMIM:618180
54084	TSPEAR	HP:0000494	Downslanted palpebral fissures	5/5	OMIM:618180
54101	RIPK4	HP:0001159	Syndactyly	5/5	OMIM:263650
54101	RIPK4	HP:0008551	Microtia	1/1	OMIM:263650
54101	RIPK4	HP:0001270	Motor delay	-	ORPHA:1401
54101	RIPK4	HP:0001251	Ataxia	HP:0040282	ORPHA:1401
54101	RIPK4	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1234
54101	RIPK4	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:1234
54101	RIPK4	HP:0007418	Alopecia totalis	1/1	OMIM:263650
54101	RIPK4	HP:0007418	Alopecia totalis	HP:0040281	ORPHA:1234
54101	RIPK4	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:1234
54101	RIPK4	HP:0008689	Bilateral cryptorchidism	HP:0040283	OMIM:263650
54101	RIPK4	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:1234
54101	RIPK4	HP:0000086	Ectopic kidney	1/3	OMIM:263650
54101	RIPK4	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:1234
54101	RIPK4	HP:0000062	Ambiguous genitalia	-	OMIM:263650
54101	RIPK4	HP:0000059	Hypoplastic labia majora	3/3	OMIM:263650
54101	RIPK4	HP:0000072	Hydroureter	HP:0040282	ORPHA:1401
54101	RIPK4	HP:0001371	Flexion contracture	3/3	OMIM:263650
54101	RIPK4	HP:0000042	Absent external genitalia	1/1	OMIM:263650
54101	RIPK4	HP:0000054	Micropenis	1/1	OMIM:263650
54101	RIPK4	HP:0000050	Hypoplastic male external genitalia	1/1	OMIM:263650
54101	RIPK4	HP:0000050	Hypoplastic male external genitalia	HP:0040281	ORPHA:1234
54101	RIPK4	HP:0000023	Inguinal hernia	1/3	OMIM:263650
54101	RIPK4	HP:0000007	Autosomal recessive inheritance	-	OMIM:263650
54101	RIPK4	HP:0000007	Autosomal recessive inheritance	-	OMIM:214350
54101	RIPK4	HP:0003974	Absent radius	1/2	OMIM:263650
54101	RIPK4	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:1401
54101	RIPK4	HP:0012165	Oligodactyly	1/1	OMIM:263650
54101	RIPK4	HP:0000161	Median cleft upper lip	HP:0040281	ORPHA:1234
54101	RIPK4	HP:0000160	Narrow mouth	HP:0040282	ORPHA:1234
54101	RIPK4	HP:0000175	Cleft palate	HP:0040282	ORPHA:1401
54101	RIPK4	HP:0000175	Cleft palate	2/3	OMIM:263650
54101	RIPK4	HP:0000175	Cleft palate	HP:0040281	ORPHA:1234
54101	RIPK4	HP:0006349	Agenesis of permanent teeth	HP:0040282	ORPHA:1401
54101	RIPK4	HP:0032527	Inferiorly positioned umbilicus	4/4	OMIM:263650
54101	RIPK4	HP:0002710	Commissural lip pit	HP:0040282	ORPHA:1401
54101	RIPK4	HP:0002710	Commissural lip pit	-	OMIM:214350
54101	RIPK4	HP:0002025	Anal stenosis	2/4	OMIM:263650
54101	RIPK4	HP:0002023	Anal atresia	1/1	OMIM:263650
54101	RIPK4	HP:0002006	Tessier cleft	11/11	OMIM:263650
54101	RIPK4	HP:0010489	Absent palmar crease	3/3	OMIM:263650
54101	RIPK4	HP:0010609	Skin tags	1/1	OMIM:263650
54101	RIPK4	HP:0002164	Nail dysplasia	HP:0040281	ORPHA:1401
54101	RIPK4	HP:0002164	Nail dysplasia	-	OMIM:214350
54101	RIPK4	HP:0004704	Short fifth metatarsal	HP:0040283	ORPHA:1401
54101	RIPK4	HP:0003577	Congenital onset	4/4	OMIM:263650
54101	RIPK4	HP:0002223	Absent eyebrow	-	OMIM:263650
54101	RIPK4	HP:0200102	Sparse or absent eyelashes	HP:0040281	ORPHA:1234
54101	RIPK4	HP:0002212	Curly hair	HP:0040281	ORPHA:1401
54101	RIPK4	HP:0002212	Curly hair	-	OMIM:214350
54101	RIPK4	HP:0002209	Sparse scalp hair	1/1	OMIM:263650
54101	RIPK4	HP:0100750	Atelectasis	HP:0040282	ORPHA:1401
54101	RIPK4	HP:0200160	Agenesis of maxillary incisor	HP:0040282	ORPHA:1401
54101	RIPK4	HP:0001060	Axillary pterygium	2/4	OMIM:263650
54101	RIPK4	HP:0001059	Pterygium	1/1	OMIM:263650
54101	RIPK4	HP:0009826	Limb undergrowth	4/4	OMIM:263650
54101	RIPK4	HP:0009803	Short phalanx of finger	-	OMIM:263650
54101	RIPK4	HP:0200041	Skin erosion	-	ORPHA:1401
54101	RIPK4	HP:0009777	Absent thumb	1/1	OMIM:263650
54101	RIPK4	HP:0009777	Absent thumb	HP:0040282	ORPHA:1234
54101	RIPK4	HP:0009778	Short thumb	4/4	OMIM:263650
54101	RIPK4	HP:0009755	Ankyloblepharon	4/5	OMIM:263650
54101	RIPK4	HP:0009755	Ankyloblepharon	HP:0040281	ORPHA:1401
54101	RIPK4	HP:0009755	Ankyloblepharon	HP:0040281	ORPHA:1234
54101	RIPK4	HP:0009755	Ankyloblepharon	-	OMIM:214350
54101	RIPK4	HP:0009756	Popliteal pterygium	5/5	OMIM:263650
54101	RIPK4	HP:0009756	Popliteal pterygium	HP:0040281	ORPHA:1234
54101	RIPK4	HP:0000625	Eyelid coloboma	HP:0040282	ORPHA:1234
54101	RIPK4	HP:0010049	Short metacarpal	4/4	OMIM:263650
54101	RIPK4	HP:0000656	Ectropion	3/4	OMIM:263650
54101	RIPK4	HP:0000652	Lower eyelid coloboma	2/3	OMIM:263650
54101	RIPK4	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:1234
54101	RIPK4	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	HP:0040281	ORPHA:1234
54101	RIPK4	HP:0003031	Ulnar bowing	1/2	OMIM:263650
54101	RIPK4	HP:0011461	Fetal onset	1/1	OMIM:263650
54101	RIPK4	HP:0003196	Short nose	1/1	OMIM:263650
54101	RIPK4	HP:0003196	Short nose	HP:0040282	ORPHA:1234
54101	RIPK4	HP:0000882	Hypoplastic scapulae	HP:0040283	OMIM:263650
54101	RIPK4	HP:0012804	Corneal ulceration	4/4	OMIM:263650
54101	RIPK4	HP:0000813	Bicornuate uterus	1/1	OMIM:263650
54101	RIPK4	HP:0010297	Bifid tongue	HP:0040282	ORPHA:1401
54101	RIPK4	HP:0010285	Oral synechia	4/4	OMIM:263650
54101	RIPK4	HP:0000958	Dry skin	HP:0040282	ORPHA:1401
54101	RIPK4	HP:0000958	Dry skin	3/4	OMIM:263650
54101	RIPK4	HP:0000966	Hypohidrosis	HP:0040282	ORPHA:1401
54101	RIPK4	HP:0100240	Synostosis of joints	HP:0040281	ORPHA:1234
54101	RIPK4	HP:0000298	Mask-like facies	4/4	OMIM:263650
54101	RIPK4	HP:0001596	Alopecia	4/4	OMIM:263650
54101	RIPK4	HP:0007759	Opacification of the corneal stroma	1/1	OMIM:263650
54101	RIPK4	HP:0002804	Arthrogryposis multiplex congenita	3/3	OMIM:263650
54101	RIPK4	HP:0000252	Microcephaly	HP:0040281	ORPHA:1234
54101	RIPK4	HP:0030004	Cicatricial lagophthalmos	1/4	OMIM:263650
54101	RIPK4	HP:0001558	Decreased fetal movement	1/1	OMIM:263650
54101	RIPK4	HP:0030011	Imperforate hymen	HP:0040282	ORPHA:1401
54101	RIPK4	HP:0001539	Omphalocele	1/1	OMIM:263650
54101	RIPK4	HP:0002866	Hypoplastic iliac wing	2/3	OMIM:263650
54101	RIPK4	HP:0000204	Cleft upper lip	2/3	OMIM:263650
54101	RIPK4	HP:0001511	Intrauterine growth retardation	-	OMIM:263650
54101	RIPK4	HP:0000378	Cupped ear	HP:0040283	OMIM:263650
54101	RIPK4	HP:0000369	Low-set ears	3/4	OMIM:263650
54101	RIPK4	HP:0000347	Micrognathia	3/3	OMIM:263650
54101	RIPK4	HP:0000347	Micrognathia	HP:0040282	ORPHA:1234
54101	RIPK4	HP:0000316	Hypertelorism	HP:0040282	ORPHA:1401
54101	RIPK4	HP:0000316	Hypertelorism	1/1	OMIM:263650
54101	RIPK4	HP:0000327	Hypoplasia of the maxilla	HP:0040283	OMIM:263650
54101	RIPK4	HP:0001655	Patent foramen ovale	1/3	OMIM:263650
54101	RIPK4	HP:0007957	Corneal opacity	HP:0040282	ORPHA:1234
54101	RIPK4	HP:0006610	Wide intermamillary distance	3/4	OMIM:263650
54101	RIPK4	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1401
54101	RIPK4	HP:0001792	Small nail	4/4	OMIM:263650
54101	RIPK4	HP:0000470	Short neck	3/4	OMIM:263650
54101	RIPK4	HP:0001798	Anonychia	-	OMIM:263650
54101	RIPK4	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:1234
54101	RIPK4	HP:0001762	Talipes equinovarus	4/4	OMIM:263650
54101	RIPK4	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:1234
54101	RIPK4	HP:0000430	Underdeveloped nasal alae	4/4	OMIM:263650
54101	RIPK4	HP:0001800	Hypoplastic toenails	HP:0040281	ORPHA:1234
54101	RIPK4	HP:0000582	Upslanted palpebral fissure	4/4	OMIM:263650
54101	RIPK4	HP:0000581	Blepharophimosis	3/4	OMIM:263650
54101	RIPK4	HP:0011224	Ablepharon	1/1	OMIM:263650
54101	RIPK4	HP:0000561	Absent eyelashes	-	OMIM:263650
54101	RIPK4	HP:0000568	Microphthalmia	HP:0040283	OMIM:263650
54101	RIPK4	HP:0001883	Talipes	HP:0040281	ORPHA:1234
54112	GPR88	HP:0002465	Poor speech	-	OMIM:616939
54112	GPR88	HP:0002457	Abnormal head movements	-	OMIM:616939
54112	GPR88	HP:0001249	Intellectual disability	-	OMIM:616939
54112	GPR88	HP:0001263	Global developmental delay	-	OMIM:616939
54112	GPR88	HP:0000007	Autosomal recessive inheritance	-	OMIM:616939
54112	GPR88	HP:0002072	Chorea	-	OMIM:616939
54112	GPR88	HP:0004305	Involuntary movements	-	OMIM:616939
54148	MRPL39	HP:0007305	CNS demyelination	1/3	OMIM:620646
54148	MRPL39	HP:0001252	Hypotonia	2/3	OMIM:620646
54148	MRPL39	HP:0001263	Global developmental delay	2/3	OMIM:620646
54148	MRPL39	HP:0000007	Autosomal recessive inheritance	-	OMIM:620646
54148	MRPL39	HP:0003348	Hyperalaninemia	1/3	OMIM:620646
54148	MRPL39	HP:0002013	Vomiting	2/3	OMIM:620646
54148	MRPL39	HP:0002076	Migraine	1/3	OMIM:620646
54148	MRPL39	HP:0002151	Increased circulating lactate concentration	1/3	OMIM:620646
54148	MRPL39	HP:0002104	Apnea	1/3	OMIM:620646
54148	MRPL39	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:620646
54148	MRPL39	HP:0002181	Cerebral edema	1/3	OMIM:620646
54148	MRPL39	HP:0003593	Infantile onset	1/3	OMIM:620646
54148	MRPL39	HP:0008347	Decreased activity of mitochondrial complex IV	2/2	OMIM:620646
54148	MRPL39	HP:0007018	Attention deficit hyperactivity disorder	1/1	OMIM:620646
54148	MRPL39	HP:0011968	Feeding difficulties	2/3	OMIM:620646
54148	MRPL39	HP:0002376	Developmental regression	1/3	OMIM:620646
54148	MRPL39	HP:0001081	Cholelithiasis	1/3	OMIM:620646
54148	MRPL39	HP:0003623	Neonatal onset	1/3	OMIM:620646
54148	MRPL39	HP:0012666	Severely reduced left ventricular ejection fraction	1/3	OMIM:620646
54148	MRPL39	HP:0012751	Abnormal basal ganglia MRI signal intensity	1/3	OMIM:620646
54148	MRPL39	HP:0012734	Ketotic hypoglycemia	1/3	OMIM:620646
54148	MRPL39	HP:0000741	Apathy	1/3	OMIM:620646
54148	MRPL39	HP:0012707	Elevated brain lactate level by MRS	2/2	OMIM:620646
54148	MRPL39	HP:0011463	Childhood onset	1/3	OMIM:620646
54148	MRPL39	HP:0003215	Dicarboxylic aciduria	1/3	OMIM:620646
54148	MRPL39	HP:0001508	Failure to thrive	2/3	OMIM:620646
54148	MRPL39	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1/2	OMIM:620646
54148	MRPL39	HP:0001639	Hypertrophic cardiomyopathy	1/3	OMIM:620646
54148	MRPL39	HP:0001635	Congestive heart failure	1/3	OMIM:620646
54148	MRPL39	HP:0000486	Strabismus	1/3	OMIM:620646
54148	MRPL39	HP:0000546	Retinal degeneration	1/3	OMIM:620646
54187	NANS	HP:0020206	Simple ear	-	OMIM:610442
54187	NANS	HP:0010864	Intellectual disability, severe	-	OMIM:610442
54187	NANS	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
54187	NANS	HP:0001293	Cranial nerve compression	-	OMIM:131300
54187	NANS	HP:0001290	Generalized hypotonia	-	OMIM:610442
54187	NANS	HP:0001270	Motor delay	-	OMIM:610442
54187	NANS	HP:0001250	Seizure	HP:0040283	OMIM:610442
54187	NANS	HP:0001252	Hypotonia	-	OMIM:610442
54187	NANS	HP:0001252	Hypotonia	2/7	OMIM:615777
54187	NANS	HP:0001251	Ataxia	-	OMIM:610442
54187	NANS	HP:0001249	Intellectual disability	-	OMIM:610442
54187	NANS	HP:0001249	Intellectual disability	5/7	OMIM:615777
54187	NANS	HP:0001263	Global developmental delay	-	OMIM:615777
54187	NANS	HP:0100864	Short femoral neck	-	OMIM:610442
54187	NANS	HP:0002515	Waddling gait	54/102	OMIM:131300
54187	NANS	HP:0001382	Joint hypermobility	HP:0040283	OMIM:610442
54187	NANS	HP:0001382	Joint hypermobility	-	OMIM:615777
54187	NANS	HP:0002694	Sclerosis of skull base	-	OMIM:131300
54187	NANS	HP:0008897	Postnatal growth retardation	-	OMIM:615777
54187	NANS	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
54187	NANS	HP:0001324	Muscle weakness	40/96	OMIM:131300
54187	NANS	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
54187	NANS	HP:0000007	Autosomal recessive inheritance	-	OMIM:610442
54187	NANS	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
54187	NANS	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
54187	NANS	HP:0002650	Scoliosis	12/14	OMIM:131300
54187	NANS	HP:0002651	Spondyloepimetaphyseal dysplasia	-	OMIM:610442
54187	NANS	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
54187	NANS	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
54187	NANS	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
54187	NANS	HP:0000179	Thick lower lip vermilion	-	OMIM:610442
54187	NANS	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
54187	NANS	HP:0001498	Carpal bone hypoplasia	-	OMIM:610442
54187	NANS	HP:0000175	Cleft palate	2/7	OMIM:615777
54187	NANS	HP:0003301	Irregular vertebral endplates	-	OMIM:610442
54187	NANS	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	OMIM:610442
54187	NANS	HP:0002059	Cerebral atrophy	4/6	OMIM:610442
54187	NANS	HP:0003388	Easy fatigability	36/76	OMIM:131300
54187	NANS	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
54187	NANS	HP:0002119	Ventriculomegaly	HP:0040283	OMIM:610442
54187	NANS	HP:0002162	Low posterior hairline	-	OMIM:610442
54187	NANS	HP:0010585	Small epiphyses	-	OMIM:610442
54187	NANS	HP:0010582	Irregular epiphyses	-	OMIM:610442
54187	NANS	HP:0003510	Severe short stature	7/7	OMIM:615777
54187	NANS	HP:0001007	Hirsutism	-	OMIM:610442
54187	NANS	HP:0002315	Headache	-	OMIM:131300
54187	NANS	HP:0004976	Knee dislocation	6/7	OMIM:615777
54187	NANS	HP:0009803	Short phalanx of finger	-	OMIM:615777
54187	NANS	HP:0009763	Limb pain	63/92	OMIM:131300
54187	NANS	HP:0003621	Juvenile onset	-	OMIM:131300
54187	NANS	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
54187	NANS	HP:0004233	Advanced ossification of carpal bones	-	OMIM:610442
54187	NANS	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
54187	NANS	HP:0000639	Nystagmus	-	OMIM:610442
54187	NANS	HP:6001056	Out-toeing	-	OMIM:131300
54187	NANS	HP:0000651	Diplopia	-	OMIM:131300
54187	NANS	HP:0001956	Truncal obesity	2/7	OMIM:615777
54187	NANS	HP:0001903	Anemia	HP:0040283	OMIM:131300
54187	NANS	HP:0010049	Short metacarpal	-	OMIM:615777
54187	NANS	HP:0012697	Small basal ganglia	HP:0040283	OMIM:610442
54187	NANS	HP:0000678	Dental crowding	-	OMIM:615777
54187	NANS	HP:0012650	Perisylvian polymicrogyria	1/6	OMIM:610442
54187	NANS	HP:0000670	Carious teeth	-	OMIM:131300
54187	NANS	HP:0011304	Broad thumb	2/7	OMIM:615777
54187	NANS	HP:0000668	Hypodontia	-	OMIM:615777
54187	NANS	HP:0000664	Synophrys	-	OMIM:615777
54187	NANS	HP:0000664	Synophrys	-	OMIM:610442
54187	NANS	HP:0004322	Short stature	9/9	OMIM:610442
54187	NANS	HP:0003085	Long fibula	-	OMIM:610442
54187	NANS	HP:0004396	Poor appetite	-	OMIM:131300
54187	NANS	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
54187	NANS	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
54187	NANS	HP:0003015	Flared metaphysis	-	OMIM:610442
54187	NANS	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
54187	NANS	HP:0003026	Short long bone	7/7	OMIM:615777
54187	NANS	HP:0003025	Metaphyseal irregularity	-	OMIM:610442
54187	NANS	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
54187	NANS	HP:0000767	Pectus excavatum	2/7	OMIM:615777
54187	NANS	HP:0000768	Pectus carinatum	1/7	OMIM:615777
54187	NANS	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
54187	NANS	HP:0000750	Delayed speech and language development	-	OMIM:615777
54187	NANS	HP:0011461	Fetal onset	7/7	OMIM:615777
54187	NANS	HP:0000774	Narrow chest	2/7	OMIM:615777
54187	NANS	HP:0000926	Platyspondyly	1/7	OMIM:615777
54187	NANS	HP:0000926	Platyspondyly	-	OMIM:610442
54187	NANS	HP:0003180	Flat acetabular roof	-	OMIM:610442
54187	NANS	HP:0003180	Flat acetabular roof	-	OMIM:615777
54187	NANS	HP:0034295	Reduced cerebral white matter volume	1/6	OMIM:610442
54187	NANS	HP:0004482	Relative macrocephaly	-	OMIM:615777
54187	NANS	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
54187	NANS	HP:0000823	Delayed puberty	-	OMIM:131300
54187	NANS	HP:0000894	Short clavicles	-	OMIM:615777
54187	NANS	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
54187	NANS	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
54187	NANS	HP:0000286	Epicanthus	-	OMIM:610442
54187	NANS	HP:0000286	Epicanthus	1/7	OMIM:615777
54187	NANS	HP:0000280	Coarse facial features	2/7	OMIM:615777
54187	NANS	HP:0000280	Coarse facial features	-	OMIM:610442
54187	NANS	HP:0000294	Low anterior hairline	-	OMIM:610442
54187	NANS	HP:0005121	Posterior scalloping of vertebral bodies	-	OMIM:610442
54187	NANS	HP:0002827	Hip dislocation	3/7	OMIM:615777
54187	NANS	HP:0000252	Microcephaly	-	OMIM:610442
54187	NANS	HP:0000252	Microcephaly	-	OMIM:615777
54187	NANS	HP:0000248	Brachycephaly	-	OMIM:610442
54187	NANS	HP:0002857	Genu valgum	-	OMIM:131300
54187	NANS	HP:0002868	Narrow iliac wing	-	OMIM:610442
54187	NANS	HP:0001533	Slender build	-	OMIM:131300
54187	NANS	HP:0031367	Metaphyseal striations	-	OMIM:610442
54187	NANS	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
54187	NANS	HP:0007807	Optic nerve compression	-	OMIM:131300
54187	NANS	HP:0012368	Flat face	7/7	OMIM:615777
54187	NANS	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
54187	NANS	HP:0000365	Hearing impairment	10/67	OMIM:131300
54187	NANS	HP:0000343	Long philtrum	1/7	OMIM:615777
54187	NANS	HP:0011001	Increased bone mineral density	-	OMIM:131300
54187	NANS	HP:0000311	Round face	2/7	OMIM:615777
54187	NANS	HP:0002970	Genu varum	-	OMIM:615777
54187	NANS	HP:0000303	Mandibular prognathia	-	OMIM:131300
54187	NANS	HP:0005280	Depressed nasal bridge	-	OMIM:610442
54187	NANS	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
54187	NANS	HP:0000486	Strabismus	HP:0040283	OMIM:610442
54187	NANS	HP:0012471	Thick vermilion border	-	OMIM:610442
54187	NANS	HP:0000470	Short neck	-	OMIM:610442
54187	NANS	HP:0000470	Short neck	1/7	OMIM:615777
54187	NANS	HP:0001769	Broad foot	HP:0040283	OMIM:615777
54187	NANS	HP:0001763	Pes planus	1/7	OMIM:615777
54187	NANS	HP:0000445	Wide nose	-	OMIM:610442
54187	NANS	HP:0000414	Bulbous nose	-	OMIM:610442
54187	NANS	HP:0001840	Metatarsus adductus	-	OMIM:615777
54187	NANS	HP:0000520	Proptosis	2/4	OMIM:131300
54187	NANS	HP:0000520	Proptosis	7/7	OMIM:615777
54187	NANS	HP:0000592	Blue sclerae	2/7	OMIM:615777
54187	NANS	HP:0011220	Prominent forehead	-	OMIM:610442
54187	NANS	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
54187	NANS	HP:0012514	Lower limb pain	4/4	OMIM:131300
54205	CYCS	HP:0000006	Autosomal dominant inheritance	-	OMIM:612004
54205	CYCS	HP:0011876	Abnormal platelet volume	0/29	OMIM:612004
54205	CYCS	HP:0001873	Thrombocytopenia	29/29	OMIM:612004
54209	TREM2	HP:0001155	Abnormality of the hand	-	OMIM:221770
54209	TREM2	HP:0002488	Acute leukemia	HP:0040283	ORPHA:2770
54209	TREM2	HP:0002493	Upper motor neuron dysfunction	HP:0040283	ORPHA:275864
54209	TREM2	HP:0002465	Poor speech	HP:0040281	ORPHA:275864
54209	TREM2	HP:0002463	Language impairment	HP:0040281	ORPHA:1020
54209	TREM2	HP:0002463	Language impairment	HP:0040283	ORPHA:803
54209	TREM2	HP:0003791	Deposits immunoreactive to beta-amyloid protein	HP:0040281	ORPHA:1020
54209	TREM2	HP:0002476	Primitive reflex	-	OMIM:618193
54209	TREM2	HP:0002476	Primitive reflex	-	OMIM:221770
54209	TREM2	HP:0002442	Dyscalculia	HP:0040281	ORPHA:275864
54209	TREM2	HP:0002446	Astrocytosis	HP:0040283	ORPHA:275864
54209	TREM2	HP:0002446	Astrocytosis	HP:0040283	ORPHA:100070
54209	TREM2	HP:0007305	CNS demyelination	-	OMIM:618193
54209	TREM2	HP:0002427	Expressive aphasia	HP:0040283	ORPHA:100070
54209	TREM2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
54209	TREM2	HP:0001297	Stroke	-	ORPHA:100070
54209	TREM2	HP:0001293	Cranial nerve compression	-	OMIM:131300
54209	TREM2	HP:0001276	Hypertonia	HP:0040281	ORPHA:1020
54209	TREM2	HP:0001268	Mental deterioration	HP:0040281	ORPHA:275864
54209	TREM2	HP:0001268	Mental deterioration	HP:0040281	ORPHA:100070
54209	TREM2	HP:0001289	Confusion	HP:0040281	ORPHA:1020
54209	TREM2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:275864
54209	TREM2	HP:0001288	Gait disturbance	-	OMIM:618193
54209	TREM2	HP:0001288	Gait disturbance	-	OMIM:221770
54209	TREM2	HP:0001250	Seizure	HP:0040281	ORPHA:1020
54209	TREM2	HP:0001250	Seizure	HP:0040282	ORPHA:2770
54209	TREM2	HP:0001250	Seizure	-	OMIM:221770
54209	TREM2	HP:0001250	Seizure	-	OMIM:618193
54209	TREM2	HP:0001252	Hypotonia	2/7	OMIM:615777
54209	TREM2	HP:0001251	Ataxia	HP:0040283	ORPHA:1020
54209	TREM2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:1020
54209	TREM2	HP:0001249	Intellectual disability	5/7	OMIM:615777
54209	TREM2	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
54209	TREM2	HP:0001263	Global developmental delay	-	OMIM:615777
54209	TREM2	HP:0001257	Spasticity	HP:0040282	ORPHA:803
54209	TREM2	HP:0001257	Spasticity	HP:0040282	ORPHA:2770
54209	TREM2	HP:0001257	Spasticity	-	OMIM:221770
54209	TREM2	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
54209	TREM2	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
54209	TREM2	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
54209	TREM2	HP:0002515	Waddling gait	54/102	OMIM:131300
54209	TREM2	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:2770
54209	TREM2	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:275864
54209	TREM2	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:100070
54209	TREM2	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
54209	TREM2	HP:0012062	Bone cyst	-	OMIM:618193
54209	TREM2	HP:0012062	Bone cyst	6/6	OMIM:221770
54209	TREM2	HP:0012062	Bone cyst	HP:0040281	ORPHA:2770
54209	TREM2	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:2770
54209	TREM2	HP:0001382	Joint hypermobility	-	OMIM:615777
54209	TREM2	HP:0000020	Urinary incontinence	-	OMIM:221770
54209	TREM2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:275864
54209	TREM2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
54209	TREM2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
54209	TREM2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
54209	TREM2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
54209	TREM2	HP:0001324	Muscle weakness	40/96	OMIM:131300
54209	TREM2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
54209	TREM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:221770
54209	TREM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618193
54209	TREM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
54209	TREM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
54209	TREM2	HP:0001336	Myoclonus	-	OMIM:618193
54209	TREM2	HP:0001336	Myoclonus	HP:0040281	ORPHA:1020
54209	TREM2	HP:0001336	Myoclonus	-	OMIM:221770
54209	TREM2	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
54209	TREM2	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:2770
54209	TREM2	HP:0002653	Bone pain	HP:0040281	ORPHA:2770
54209	TREM2	HP:0002650	Scoliosis	12/14	OMIM:131300
54209	TREM2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
54209	TREM2	HP:0001300	Parkinsonism	HP:0040281	ORPHA:1020
54209	TREM2	HP:0001300	Parkinsonism	HP:0040283	ORPHA:100070
54209	TREM2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
54209	TREM2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
54209	TREM2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
54209	TREM2	HP:0000175	Cleft palate	2/7	OMIM:615777
54209	TREM2	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
54209	TREM2	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
54209	TREM2	HP:0002756	Pathologic fracture	-	OMIM:618193
54209	TREM2	HP:0002756	Pathologic fracture	-	OMIM:221770
54209	TREM2	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
54209	TREM2	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
54209	TREM2	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
54209	TREM2	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
54209	TREM2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:275864
54209	TREM2	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
54209	TREM2	HP:0002079	Hypoplasia of the corpus callosum	5/6	OMIM:618193
54209	TREM2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:221770
54209	TREM2	HP:0002072	Chorea	HP:0040282	ORPHA:2770
54209	TREM2	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:275864
54209	TREM2	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:100070
54209	TREM2	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
54209	TREM2	HP:0002059	Cerebral atrophy	-	OMIM:221770
54209	TREM2	HP:0003388	Easy fatigability	36/76	OMIM:131300
54209	TREM2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
54209	TREM2	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2770
54209	TREM2	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
54209	TREM2	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:275864
54209	TREM2	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:100070
54209	TREM2	HP:0003470	Paralysis	HP:0040282	ORPHA:803
54209	TREM2	HP:0003487	Babinski sign	-	OMIM:618193
54209	TREM2	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
54209	TREM2	HP:0003487	Babinski sign	-	OMIM:221770
54209	TREM2	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
54209	TREM2	HP:0002120	Cerebral cortical atrophy	6/6	OMIM:618193
54209	TREM2	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1020
54209	TREM2	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:2770
54209	TREM2	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:2770
54209	TREM2	HP:0003447	Axonal loss	-	OMIM:221770
54209	TREM2	HP:0002135	Basal ganglia calcification	4/4	OMIM:618193
54209	TREM2	HP:0002135	Basal ganglia calcification	-	OMIM:221770
54209	TREM2	HP:0002127	Abnormal upper motor neuron morphology	-	OMIM:221770
54209	TREM2	HP:0002186	Apraxia	HP:0040283	ORPHA:1020
54209	TREM2	HP:0002186	Apraxia	-	OMIM:618193
54209	TREM2	HP:0002186	Apraxia	-	OMIM:221770
54209	TREM2	HP:0002186	Apraxia	HP:0040282	ORPHA:100070
54209	TREM2	HP:0002185	Neurofibrillary tangles	HP:0040281	ORPHA:1020
54209	TREM2	HP:0002185	Neurofibrillary tangles	-	ORPHA:100070
54209	TREM2	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
54209	TREM2	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:100069
54209	TREM2	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:2770
54209	TREM2	HP:0002167	Abnormal speech pattern	-	OMIM:221770
54209	TREM2	HP:0002171	Gliosis	-	OMIM:221770
54209	TREM2	HP:0010529	Echolalia	HP:0040281	ORPHA:275864
54209	TREM2	HP:0010522	Dyslexia	HP:0040282	ORPHA:100069
54209	TREM2	HP:0010522	Dyslexia	HP:0040281	ORPHA:275864
54209	TREM2	HP:0010526	Dysgraphia	HP:0040282	ORPHA:100069
54209	TREM2	HP:0010526	Dysgraphia	HP:0040281	ORPHA:275864
54209	TREM2	HP:0010526	Dysgraphia	HP:0040283	ORPHA:1020
54209	TREM2	HP:0010526	Dysgraphia	HP:0040283	ORPHA:100070
54209	TREM2	HP:0010525	Finger agnosia	HP:0040283	ORPHA:1020
54209	TREM2	HP:0010524	Disturbed sensory perception	-	OMIM:618193
54209	TREM2	HP:0010524	Disturbed sensory perception	HP:0040282	ORPHA:2770
54209	TREM2	HP:0010524	Disturbed sensory perception	-	OMIM:221770
54209	TREM2	HP:0010523	Alexia	HP:0040282	ORPHA:100069
54209	TREM2	HP:0010523	Alexia	HP:0040282	ORPHA:100070
54209	TREM2	HP:0003510	Severe short stature	7/7	OMIM:615777
54209	TREM2	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
54209	TREM2	HP:0002380	Fasciculations	HP:0040283	ORPHA:275864
54209	TREM2	HP:0002381	Aphasia	HP:0040281	ORPHA:100069
54209	TREM2	HP:0002381	Aphasia	-	OMIM:618193
54209	TREM2	HP:0002381	Aphasia	HP:0040283	ORPHA:1020
54209	TREM2	HP:0002381	Aphasia	HP:0040281	ORPHA:275864
54209	TREM2	HP:0002381	Aphasia	HP:0040281	ORPHA:100070
54209	TREM2	HP:0002366	Abnormal lower motor neuron morphology	HP:0040283	ORPHA:100070
54209	TREM2	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
54209	TREM2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
54209	TREM2	HP:0002376	Developmental regression	HP:0040281	ORPHA:2770
54209	TREM2	HP:0002371	Loss of speech	HP:0040281	ORPHA:275864
54209	TREM2	HP:0002340	Caudate atrophy	2/6	OMIM:618193
54209	TREM2	HP:0002340	Caudate atrophy	-	OMIM:221770
54209	TREM2	HP:0002353	EEG abnormality	-	OMIM:618193
54209	TREM2	HP:0002353	EEG abnormality	-	OMIM:221770
54209	TREM2	HP:0002354	Memory impairment	-	OMIM:618193
54209	TREM2	HP:0002354	Memory impairment	HP:0040281	ORPHA:2770
54209	TREM2	HP:0002354	Memory impairment	HP:0040281	ORPHA:1020
54209	TREM2	HP:0002354	Memory impairment	-	OMIM:221770
54209	TREM2	HP:0002354	Memory impairment	HP:0040281	ORPHA:275864
54209	TREM2	HP:0002354	Memory impairment	HP:0040281	ORPHA:100070
54209	TREM2	HP:0002352	Leukoencephalopathy	6/6	OMIM:618193
54209	TREM2	HP:0002352	Leukoencephalopathy	-	OMIM:221770
54209	TREM2	HP:0002315	Headache	-	OMIM:131300
54209	TREM2	HP:0004976	Knee dislocation	6/7	OMIM:615777
54209	TREM2	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
54209	TREM2	HP:0009803	Short phalanx of finger	-	OMIM:615777
54209	TREM2	HP:0007112	Temporal cortical atrophy	HP:0040281	ORPHA:100070
54209	TREM2	HP:0009763	Limb pain	63/92	OMIM:131300
54209	TREM2	HP:0002300	Mutism	HP:0040283	ORPHA:275864
54209	TREM2	HP:0002300	Mutism	HP:0040283	ORPHA:100070
54209	TREM2	HP:0002307	Drooling	HP:0040282	ORPHA:803
54209	TREM2	HP:0003621	Juvenile onset	-	OMIM:131300
54209	TREM2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
54209	TREM2	HP:0031844	Euphoria	-	OMIM:221770
54209	TREM2	HP:0006892	Frontotemporal cerebral atrophy	HP:0040281	ORPHA:275864
54209	TREM2	HP:0006892	Frontotemporal cerebral atrophy	HP:0040281	ORPHA:100070
54209	TREM2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
54209	TREM2	HP:6001056	Out-toeing	-	OMIM:131300
54209	TREM2	HP:0000651	Diplopia	-	OMIM:131300
54209	TREM2	HP:0001956	Truncal obesity	2/7	OMIM:615777
54209	TREM2	HP:0001903	Anemia	HP:0040283	OMIM:131300
54209	TREM2	HP:0010049	Short metacarpal	-	OMIM:615777
54209	TREM2	HP:0012690	T2 hypointense thalamus	4/6	OMIM:618193
54209	TREM2	HP:0012671	Abulia	HP:0040282	ORPHA:100069
54209	TREM2	HP:0012671	Abulia	HP:0040283	ORPHA:275864
54209	TREM2	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
54209	TREM2	HP:0000678	Dental crowding	-	OMIM:615777
54209	TREM2	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:275864
54209	TREM2	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:100070
54209	TREM2	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:2770
54209	TREM2	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:1020
54209	TREM2	HP:0000670	Carious teeth	-	OMIM:131300
54209	TREM2	HP:0011304	Broad thumb	2/7	OMIM:615777
54209	TREM2	HP:0000668	Hypodontia	-	OMIM:615777
54209	TREM2	HP:0000664	Synophrys	-	OMIM:615777
54209	TREM2	HP:0006977	Deficit in grammar	HP:0040281	ORPHA:100070
54209	TREM2	HP:0004326	Cachexia	HP:0040283	ORPHA:803
54209	TREM2	HP:0006956	Lateral ventricle dilatation	1/1	OMIM:221770
54209	TREM2	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
54209	TREM2	HP:0030692	Brain neoplasm	-	ORPHA:100070
54209	TREM2	HP:0004396	Poor appetite	-	OMIM:131300
54209	TREM2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
54209	TREM2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
54209	TREM2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
54209	TREM2	HP:0003026	Short long bone	7/7	OMIM:615777
54209	TREM2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
54209	TREM2	HP:0004349	Reduced bone mineral density	HP:0040281	ORPHA:2770
54209	TREM2	HP:0000757	Lack of insight	HP:0040281	ORPHA:275864
54209	TREM2	HP:0000757	Lack of insight	-	OMIM:221770
54209	TREM2	HP:0000751	Personality changes	HP:0040281	ORPHA:2770
54209	TREM2	HP:0000751	Personality changes	-	OMIM:221770
54209	TREM2	HP:0000751	Personality changes	HP:0040281	ORPHA:275864
54209	TREM2	HP:0000751	Personality changes	HP:0040283	ORPHA:100070
54209	TREM2	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:2770
54209	TREM2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
54209	TREM2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
54209	TREM2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
54209	TREM2	HP:0000738	Hallucinations	HP:0040281	ORPHA:1020
54209	TREM2	HP:0000737	Irritability	HP:0040281	ORPHA:2770
54209	TREM2	HP:0000737	Irritability	HP:0040281	ORPHA:275864
54209	TREM2	HP:0000739	Anxiety	HP:0040282	ORPHA:803
54209	TREM2	HP:0000739	Anxiety	HP:0040282	ORPHA:100070
54209	TREM2	HP:0000734	Disinhibition	HP:0040282	ORPHA:1020
54209	TREM2	HP:0000734	Disinhibition	HP:0040281	ORPHA:2770
54209	TREM2	HP:0000734	Disinhibition	-	OMIM:618193
54209	TREM2	HP:0000734	Disinhibition	-	OMIM:221770
54209	TREM2	HP:0000734	Disinhibition	HP:0040281	ORPHA:275864
54209	TREM2	HP:0000733	Motor stereotypy	HP:0040281	ORPHA:275864
54209	TREM2	HP:0000750	Delayed speech and language development	-	OMIM:615777
54209	TREM2	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040283	ORPHA:2770
54209	TREM2	HP:0000741	Apathy	HP:0040283	ORPHA:275864
54209	TREM2	HP:0000719	Inappropriate behavior	HP:0040281	ORPHA:275864
54209	TREM2	HP:0000719	Inappropriate behavior	-	OMIM:221770
54209	TREM2	HP:0000716	Depression	HP:0040282	ORPHA:803
54209	TREM2	HP:0000716	Depression	HP:0040282	ORPHA:100070
54209	TREM2	HP:0000718	Aggressive behavior	-	OMIM:221770
54209	TREM2	HP:0000718	Aggressive behavior	HP:0040281	ORPHA:275864
54209	TREM2	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
54209	TREM2	HP:0000711	Restlessness	HP:0040281	ORPHA:275864
54209	TREM2	HP:0000711	Restlessness	HP:0040283	ORPHA:100070
54209	TREM2	HP:0000713	Agitation	HP:0040281	ORPHA:1020
54209	TREM2	HP:0000710	Hyperorality	HP:0040281	ORPHA:275864
54209	TREM2	HP:0000727	Frontal lobe dementia	HP:0040281	ORPHA:2770
54209	TREM2	HP:0000727	Frontal lobe dementia	-	OMIM:221770
54209	TREM2	HP:0000726	Dementia	-	OMIM:618193
54209	TREM2	HP:0000726	Dementia	HP:0040281	ORPHA:1020
54209	TREM2	HP:0000726	Dementia	HP:0040282	ORPHA:100069
54209	TREM2	HP:0000726	Dementia	6/6	OMIM:221770
54209	TREM2	HP:0000723	Restrictive behavior	HP:0040281	ORPHA:275864
54209	TREM2	HP:0000709	Psychosis	HP:0040283	ORPHA:275864
54209	TREM2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
54209	TREM2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:100070
54209	TREM2	HP:0000708	Atypical behavior	HP:0040281	ORPHA:2770
54209	TREM2	HP:0000708	Atypical behavior	HP:0040281	ORPHA:275864
54209	TREM2	HP:0011462	Young adult onset	6/6	OMIM:221770
54209	TREM2	HP:0011461	Fetal onset	7/7	OMIM:615777
54209	TREM2	HP:0011446	Abnormality of mental function	HP:0040283	ORPHA:1020
54209	TREM2	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
54209	TREM2	HP:0009124	Abnormal adipose tissue morphology	HP:0040281	ORPHA:2770
54209	TREM2	HP:0000774	Narrow chest	2/7	OMIM:615777
54209	TREM2	HP:0012759	Neurodevelopmental abnormality	HP:0040281	ORPHA:1020
54209	TREM2	HP:0030784	Anomic aphasia	HP:0040281	ORPHA:100069
54209	TREM2	HP:0000926	Platyspondyly	1/7	OMIM:615777
54209	TREM2	HP:0003180	Flat acetabular roof	-	OMIM:615777
54209	TREM2	HP:0100315	Lewy bodies	-	ORPHA:100070
54209	TREM2	HP:0004482	Relative macrocephaly	-	OMIM:615777
54209	TREM2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
54209	TREM2	HP:0000823	Delayed puberty	-	OMIM:131300
54209	TREM2	HP:0000894	Short clavicles	-	OMIM:615777
54209	TREM2	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
54209	TREM2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
54209	TREM2	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
54209	TREM2	HP:0100256	Senile plaques	HP:0040283	ORPHA:100070
54209	TREM2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
54209	TREM2	HP:0000938	Osteopenia	-	OMIM:618193
54209	TREM2	HP:0000286	Epicanthus	1/7	OMIM:615777
54209	TREM2	HP:0000280	Coarse facial features	2/7	OMIM:615777
54209	TREM2	HP:0002829	Arthralgia	-	OMIM:618193
54209	TREM2	HP:0002829	Arthralgia	HP:0040281	ORPHA:2770
54209	TREM2	HP:0002827	Hip dislocation	3/7	OMIM:615777
54209	TREM2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2770
54209	TREM2	HP:0000252	Microcephaly	-	OMIM:615777
54209	TREM2	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
54209	TREM2	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
54209	TREM2	HP:0002857	Genu valgum	-	OMIM:131300
54209	TREM2	HP:0001533	Slender build	-	OMIM:131300
54209	TREM2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
54209	TREM2	HP:0011096	Peripheral demyelination	-	OMIM:221770
54209	TREM2	HP:0007807	Optic nerve compression	-	OMIM:131300
54209	TREM2	HP:0012378	Fatigue	HP:0040282	ORPHA:803
54209	TREM2	HP:0012368	Flat face	7/7	OMIM:615777
54209	TREM2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
54209	TREM2	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
54209	TREM2	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
54209	TREM2	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
54209	TREM2	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
54209	TREM2	HP:0000365	Hearing impairment	10/67	OMIM:131300
54209	TREM2	HP:0000343	Long philtrum	1/7	OMIM:615777
54209	TREM2	HP:0011001	Increased bone mineral density	-	OMIM:131300
54209	TREM2	HP:0000311	Round face	2/7	OMIM:615777
54209	TREM2	HP:0002970	Genu varum	-	OMIM:615777
54209	TREM2	HP:0000303	Mandibular prognathia	-	OMIM:131300
54209	TREM2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
54209	TREM2	HP:0030213	Emotional dearth	HP:0040281	ORPHA:275864
54209	TREM2	HP:0030212	Collectionism	HP:0040282	ORPHA:275864
54209	TREM2	HP:0030219	Semantic dementia	HP:0040283	ORPHA:1020
54209	TREM2	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
54209	TREM2	HP:0030223	Perseverative thought	HP:0040281	ORPHA:275864
54209	TREM2	HP:0030223	Perseverative thought	HP:0040283	ORPHA:100070
54209	TREM2	HP:0030222	Visual agnosia	HP:0040281	ORPHA:100069
54209	TREM2	HP:0012444	Brain atrophy	HP:0040281	ORPHA:100069
54209	TREM2	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:275864
54209	TREM2	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:100070
54209	TREM2	HP:0000470	Short neck	1/7	OMIM:615777
54209	TREM2	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:1020
54209	TREM2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
54209	TREM2	HP:0001763	Pes planus	1/7	OMIM:615777
54209	TREM2	HP:0001760	Abnormal foot morphology	-	OMIM:221770
54209	TREM2	HP:0001840	Metatarsus adductus	-	OMIM:615777
54209	TREM2	HP:0000520	Proptosis	2/4	OMIM:131300
54209	TREM2	HP:0000520	Proptosis	7/7	OMIM:615777
54209	TREM2	HP:0001824	Weight loss	HP:0040282	ORPHA:803
54209	TREM2	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1020
54209	TREM2	HP:0000592	Blue sclerae	2/7	OMIM:615777
54209	TREM2	HP:0011204	EEG with continuous slow activity	HP:0040282	ORPHA:275864
54209	TREM2	HP:0011204	EEG with continuous slow activity	HP:0040282	ORPHA:100070
54209	TREM2	HP:0030391	Spoken word recognition deficit	HP:0040281	ORPHA:100070
54209	TREM2	HP:0012531	Pain	HP:0040282	ORPHA:803
54209	TREM2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
54209	TREM2	HP:0012514	Lower limb pain	4/4	OMIM:131300
54332	GDAP1	HP:0001178	Ulnar claw	3/9	OMIM:607706
54332	GDAP1	HP:0001178	Ulnar claw	-	OMIM:214400
54332	GDAP1	HP:0001178	Ulnar claw	-	OMIM:608340
54332	GDAP1	HP:0001171	Split hand	-	OMIM:607831
54332	GDAP1	HP:0001171	Split hand	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0002495	Impaired vibratory sensation	HP:0040281	ORPHA:101097
54332	GDAP1	HP:0002460	Distal muscle weakness	-	OMIM:607831
54332	GDAP1	HP:0002460	Distal muscle weakness	-	OMIM:607706
54332	GDAP1	HP:0002460	Distal muscle weakness	HP:0040281	ORPHA:99948
54332	GDAP1	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:99944
54332	GDAP1	HP:0002460	Distal muscle weakness	20/20	OMIM:214400
54332	GDAP1	HP:0007328	Impaired pain sensation	9/9	OMIM:607706
54332	GDAP1	HP:0007328	Impaired pain sensation	HP:0040281	ORPHA:101097
54332	GDAP1	HP:0007328	Impaired pain sensation	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0007267	Chronic axonal neuropathy	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0007267	Chronic axonal neuropathy	HP:0040281	ORPHA:101097
54332	GDAP1	HP:0007249	Decreased number of small peripheral myelinated nerve fibers	HP:0040281	ORPHA:101097
54332	GDAP1	HP:0007230	Decreased distal sensory nerve action potential	-	OMIM:607706
54332	GDAP1	HP:0007233	Clusters of axonal regeneration	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0003731	Quadriceps muscle weakness	HP:0040283	ORPHA:99948
54332	GDAP1	HP:0003731	Quadriceps muscle weakness	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0003701	Proximal muscle weakness	-	OMIM:607831
54332	GDAP1	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:99944
54332	GDAP1	HP:0001270	Motor delay	HP:0040283	ORPHA:101097
54332	GDAP1	HP:0001270	Motor delay	-	OMIM:214400
54332	GDAP1	HP:0001270	Motor delay	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0001270	Motor delay	HP:0040283	ORPHA:99944
54332	GDAP1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:99944
54332	GDAP1	HP:0001284	Areflexia	-	OMIM:607831
54332	GDAP1	HP:0001284	Areflexia	9/9	OMIM:607706
54332	GDAP1	HP:0001284	Areflexia	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0001284	Areflexia	6/6	OMIM:608340
54332	GDAP1	HP:0001284	Areflexia	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0001284	Areflexia	-	OMIM:214400
54332	GDAP1	HP:0001265	Hyporeflexia	-	OMIM:214400
54332	GDAP1	HP:0001265	Hyporeflexia	6/6	OMIM:608340
54332	GDAP1	HP:0033685	Fiber type grouping	1/2	OMIM:608340
54332	GDAP1	HP:0006064	Limited interphalangeal movement	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0007340	Lower limb muscle weakness	4/6	OMIM:608340
54332	GDAP1	HP:0002540	Inability to walk	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0002505	Loss of ambulation	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0003803	Type 1 muscle fiber predominance	1/2	OMIM:608340
54332	GDAP1	HP:0012078	Motor conduction block	HP:0040283	ORPHA:99948
54332	GDAP1	HP:0001371	Flexion contracture	3/9	OMIM:607706
54332	GDAP1	HP:0001371	Flexion contracture	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:607831
54332	GDAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:214400
54332	GDAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608340
54332	GDAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:607706
54332	GDAP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:607831
54332	GDAP1	HP:0002650	Scoliosis	-	OMIM:608340
54332	GDAP1	HP:0002650	Scoliosis	HP:0040283	ORPHA:99948
54332	GDAP1	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0008994	Proximal muscle weakness in lower limbs	9/9	OMIM:607706
54332	GDAP1	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040281	ORPHA:101097
54332	GDAP1	HP:0008997	Proximal muscle weakness in upper limbs	9/9	OMIM:607706
54332	GDAP1	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040281	ORPHA:101097
54332	GDAP1	HP:0008959	Distal upper limb muscle weakness	HP:0040281	ORPHA:101097
54332	GDAP1	HP:0008954	Intrinsic hand muscle atrophy	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0008935	Generalized neonatal hypotonia	HP:0040283	ORPHA:99948
54332	GDAP1	HP:0006248	Limited wrist movement	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0002751	Kyphoscoliosis	-	OMIM:607831
54332	GDAP1	HP:0002751	Kyphoscoliosis	HP:0040282	OMIM:214400
54332	GDAP1	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:99948
54332	GDAP1	HP:0003378	Axonal degeneration/regeneration	0/2	OMIM:607706
54332	GDAP1	HP:0003376	Steppage gait	-	OMIM:608340
54332	GDAP1	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	2/2	OMIM:608340
54332	GDAP1	HP:0003383	Onion bulb formation	2/2	OMIM:607706
54332	GDAP1	HP:0003383	Onion bulb formation	2/2	OMIM:214400
54332	GDAP1	HP:0003383	Onion bulb formation	2/2	OMIM:608340
54332	GDAP1	HP:0003382	Hypertrophic nerve changes	-	OMIM:214400
54332	GDAP1	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:607706
54332	GDAP1	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:607831
54332	GDAP1	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2/2	OMIM:214400
54332	GDAP1	HP:0011727	Peroneal muscle weakness	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0009473	Joint contracture of the hand	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0003484	Upper limb muscle weakness	3/5	OMIM:608340
54332	GDAP1	HP:0003450	Axonal regeneration	-	OMIM:607831
54332	GDAP1	HP:0003448	Decreased sensory nerve conduction velocity	8/8	OMIM:214400
54332	GDAP1	HP:0003447	Axonal loss	HP:0040281	ORPHA:101097
54332	GDAP1	HP:0003457	EMG abnormality	HP:0040281	ORPHA:99948
54332	GDAP1	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:607831
54332	GDAP1	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:607706
54332	GDAP1	HP:0003431	Decreased motor nerve conduction velocity	8/8	OMIM:214400
54332	GDAP1	HP:0003429	CNS hypomyelination	-	OMIM:214400
54332	GDAP1	HP:0003445	EMG: neuropathic changes	-	OMIM:608340
54332	GDAP1	HP:0003400	Basal lamina onion bulb formation	-	OMIM:214400
54332	GDAP1	HP:0003593	Infantile onset	-	OMIM:607831
54332	GDAP1	HP:0003593	Infantile onset	-	OMIM:214400
54332	GDAP1	HP:0003593	Infantile onset	1/6	OMIM:608340
54332	GDAP1	HP:0003577	Congenital onset	3/9	OMIM:607706
54332	GDAP1	HP:0003547	Shoulder girdle muscle weakness	HP:0040283	ORPHA:99948
54332	GDAP1	HP:0007010	Poor fine motor coordination	HP:0040281	ORPHA:99948
54332	GDAP1	HP:0007015	Poor gross motor coordination	HP:0040281	ORPHA:99948
54332	GDAP1	HP:0003693	Distal amyotrophy	-	OMIM:607831
54332	GDAP1	HP:0003693	Distal amyotrophy	-	OMIM:607706
54332	GDAP1	HP:0003693	Distal amyotrophy	-	OMIM:214400
54332	GDAP1	HP:0003693	Distal amyotrophy	-	OMIM:608340
54332	GDAP1	HP:0003693	Distal amyotrophy	HP:0040281	ORPHA:99948
54332	GDAP1	HP:0003690	Limb muscle weakness	-	OMIM:608340
54332	GDAP1	HP:0002359	Frequent falls	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0002359	Frequent falls	HP:0040283	ORPHA:99948
54332	GDAP1	HP:0003678	Rapidly progressive	-	OMIM:214400
54332	GDAP1	HP:0002317	Unsteady gait	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0002317	Unsteady gait	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0010830	Impaired tactile sensation	HP:0040281	ORPHA:101097
54332	GDAP1	HP:0009830	Peripheral neuropathy	2/2	OMIM:608340
54332	GDAP1	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:101097
54332	GDAP1	HP:0008443	Neuropathic spinal arthropathy	3/9	OMIM:607706
54332	GDAP1	HP:0008443	Neuropathic spinal arthropathy	HP:0040283	ORPHA:99948
54332	GDAP1	HP:0007107	Segmental peripheral demyelination	2/2	OMIM:214400
54332	GDAP1	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:99948
54332	GDAP1	HP:0006858	Impaired distal proprioception	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0006858	Impaired distal proprioception	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0009072	Decreased Achilles reflex	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0034045	Angulated muscle fibers	1/2	OMIM:608340
54332	GDAP1	HP:0006886	Impaired distal vibration sensation	9/9	OMIM:607706
54332	GDAP1	HP:0006886	Impaired distal vibration sensation	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0009053	Distal lower limb muscle weakness	HP:0040281	ORPHA:101097
54332	GDAP1	HP:0009027	Foot dorsiflexor weakness	-	OMIM:608340
54332	GDAP1	HP:0006937	Impaired distal tactile sensation	9/9	OMIM:607706
54332	GDAP1	HP:0006937	Impaired distal tactile sensation	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0006915	Inability to walk by childhood/adolescence	-	OMIM:214400
54332	GDAP1	HP:0009109	Denervation of the diaphragm	HP:0040283	ORPHA:99948
54332	GDAP1	HP:0000762	Decreased nerve conduction velocity	-	ORPHA:101097
54332	GDAP1	HP:0000762	Decreased nerve conduction velocity	HP:0040281	ORPHA:99948
54332	GDAP1	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:99944
54332	GDAP1	HP:0000765	Abnormal thorax morphology	HP:0040283	ORPHA:101097
54332	GDAP1	HP:0000764	Peripheral axonal degeneration	-	OMIM:607706
54332	GDAP1	HP:0000764	Peripheral axonal degeneration	-	OMIM:214400
54332	GDAP1	HP:0000764	Peripheral axonal degeneration	HP:0040281	ORPHA:101097
54332	GDAP1	HP:0011463	Childhood onset	5/6	OMIM:608340
54332	GDAP1	HP:0011463	Childhood onset	6/9	OMIM:607706
54332	GDAP1	HP:0009130	Hand muscle atrophy	HP:0040282	ORPHA:99944
54332	GDAP1	HP:0000925	Abnormality of the vertebral column	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0040078	Axonal degeneration	-	OMIM:214400
54332	GDAP1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:101097
54332	GDAP1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:99944
54332	GDAP1	HP:0011675	Arrhythmia	HP:0040282	ORPHA:99944
54332	GDAP1	HP:0011096	Peripheral demyelination	HP:0040281	ORPHA:101097
54332	GDAP1	HP:0011096	Peripheral demyelination	HP:0040282	ORPHA:99944
54332	GDAP1	HP:0011096	Peripheral demyelination	2/2	OMIM:608340
54332	GDAP1	HP:0012391	Hyporeflexia of upper limbs	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0001609	Hoarse voice	6/9	OMIM:607706
54332	GDAP1	HP:0001609	Hoarse voice	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0001609	Hoarse voice	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0002936	Distal sensory impairment	-	OMIM:607831
54332	GDAP1	HP:0002936	Distal sensory impairment	HP:0040281	ORPHA:101097
54332	GDAP1	HP:0002936	Distal sensory impairment	-	OMIM:214400
54332	GDAP1	HP:0002936	Distal sensory impairment	3/3	OMIM:608340
54332	GDAP1	HP:0002936	Distal sensory impairment	HP:0040281	ORPHA:99948
54332	GDAP1	HP:0002936	Distal sensory impairment	HP:0040282	ORPHA:99944
54332	GDAP1	HP:0001604	Vocal cord paresis	-	OMIM:607706
54332	GDAP1	HP:0001604	Vocal cord paresis	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0001604	Vocal cord paresis	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0031629	Impaired tandem gait	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0030319	Weakness of facial musculature	HP:0040284	ORPHA:99948
54332	GDAP1	HP:0030237	Hand muscle weakness	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0030237	Hand muscle weakness	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0001765	Hammertoe	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0001765	Hammertoe	-	OMIM:214400
54332	GDAP1	HP:0001765	Hammertoe	1/6	OMIM:608340
54332	GDAP1	HP:0001776	Bilateral talipes equinovarus	HP:0040282	ORPHA:99948
54332	GDAP1	HP:0001760	Abnormal foot morphology	HP:0040281	ORPHA:99948
54332	GDAP1	HP:0001762	Talipes equinovarus	-	OMIM:607831
54332	GDAP1	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0001762	Talipes equinovarus	-	OMIM:608340
54332	GDAP1	HP:0001761	Pes cavus	-	OMIM:607706
54332	GDAP1	HP:0001761	Pes cavus	HP:0040282	ORPHA:101097
54332	GDAP1	HP:0001761	Pes cavus	-	OMIM:608340
54332	GDAP1	HP:0001761	Pes cavus	HP:0040281	ORPHA:99948
54344	DPM3	HP:0003749	Pelvic girdle muscle weakness	HP:0040282	ORPHA:263494
54344	DPM3	HP:0002401	Stroke-like episode	HP:0040282	ORPHA:263494
54344	DPM3	HP:0003701	Proximal muscle weakness	1/1	OMIM:612937
54344	DPM3	HP:0001270	Motor delay	1/1	OMIM:618992
54344	DPM3	HP:0002518	Abnormal periventricular white matter morphology	1/1	OMIM:618992
54344	DPM3	HP:0002515	Waddling gait	1/1	OMIM:612937
54344	DPM3	HP:0003805	Rimmed vacuoles	1/1	OMIM:612937
54344	DPM3	HP:0003805	Rimmed vacuoles	HP:0040282	ORPHA:263494
54344	DPM3	HP:0025335	Delayed ability to stand	1/1	OMIM:618992
54344	DPM3	HP:0001324	Muscle weakness	HP:0040282	ORPHA:263494
54344	DPM3	HP:0001324	Muscle weakness	1/1	OMIM:612937
54344	DPM3	HP:0000007	Autosomal recessive inheritance	1/1	OMIM:612937
54344	DPM3	HP:0000007	Autosomal recessive inheritance	-	OMIM:618992
54344	DPM3	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:263494
54344	DPM3	HP:0008981	Calf muscle hypertrophy	HP:0040282	ORPHA:263494
54344	DPM3	HP:0003391	Gowers sign	1/1	OMIM:612937
54344	DPM3	HP:0003487	Babinski sign	HP:0040282	ORPHA:263494
54344	DPM3	HP:0002121	Generalized non-motor (absence) seizure	1/1	OMIM:618992
54344	DPM3	HP:0002187	Intellectual disability, profound	HP:0040282	ORPHA:263494
54344	DPM3	HP:0003581	Adult onset	1/1	OMIM:612937
54344	DPM3	HP:0003560	Muscular dystrophy	HP:0040282	ORPHA:263494
54344	DPM3	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:618992
54344	DPM3	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:612937
54344	DPM3	HP:0100749	Chest pain	HP:0040282	ORPHA:263494
54344	DPM3	HP:0008331	Elevated creatine kinase after exercise	HP:0040282	ORPHA:263494
54344	DPM3	HP:0003687	Centrally nucleated skeletal muscle fibers	1/1	OMIM:618992
54344	DPM3	HP:0002317	Unsteady gait	1/1	OMIM:612937
54344	DPM3	HP:0003642	Type I transferrin isoform profile	1/1	OMIM:612937
54344	DPM3	HP:0003621	Juvenile onset	1/1	OMIM:612937
54344	DPM3	HP:0031936	Delayed ability to walk	1/1	OMIM:618992
54344	DPM3	HP:0003198	Myopathy	1/1	OMIM:618992
54344	DPM3	HP:0003198	Myopathy	1/1	OMIM:612937
54344	DPM3	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:612937
54344	DPM3	HP:0012363	Decreased sialylation of O-linked protein glycosylation	HP:0040281	ORPHA:263494
54344	DPM3	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:263494
54344	DPM3	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:612937
54344	DPM3	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:263494
54344	DPM3	HP:0001644	Dilated cardiomyopathy	1/1	OMIM:612937
54344	DPM3	HP:0030234	Highly elevated creatine kinase	1/1	OMIM:618992
54344	DPM3	HP:0001763	Pes planus	HP:0040282	ORPHA:263494
54344	DPM3	HP:0006785	Limb-girdle muscular dystrophy	1/1	OMIM:612937
54345	SOX18	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:137940
54345	SOX18	HP:0001263	Global developmental delay	HP:0040283	OMIM:137940
54345	SOX18	HP:0100870	Plantar telangiectasia	HP:0040281	ORPHA:69735
54345	SOX18	HP:0100869	Palmar telangiectasia	HP:0040281	ORPHA:69735
54345	SOX18	HP:0100869	Palmar telangiectasia	2/4	OMIM:607823
54345	SOX18	HP:0000083	Renal insufficiency	-	OMIM:137940
54345	SOX18	HP:0000095	Abnormal renal glomerulus morphology	-	OMIM:137940
54345	SOX18	HP:0000034	Hydrocele testis	2/2	OMIM:137940
54345	SOX18	HP:0000034	Hydrocele testis	HP:0040282	ORPHA:69735
54345	SOX18	HP:0000034	Hydrocele testis	2/2	OMIM:607823
54345	SOX18	HP:0000007	Autosomal recessive inheritance	-	OMIM:607823
54345	SOX18	HP:0000006	Autosomal dominant inheritance	-	OMIM:137940
54345	SOX18	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
54345	SOX18	HP:0002619	Varicose veins	-	OMIM:153400
54345	SOX18	HP:0000164	Abnormality of the dentition	0/5	OMIM:607823
54345	SOX18	HP:0000175	Cleft palate	5/39	OMIM:153400
54345	SOX18	HP:0001480	Freckling	-	OMIM:137940
54345	SOX18	HP:0007621	Telangiectasia of extensor surfaces	-	OMIM:137940
54345	SOX18	HP:0100540	Palpebral edema	-	OMIM:137940
54345	SOX18	HP:0100540	Palpebral edema	1/4	OMIM:607823
54345	SOX18	HP:0100540	Palpebral edema	HP:0040282	ORPHA:69735
54345	SOX18	HP:0003593	Infantile onset	1/5	OMIM:607823
54345	SOX18	HP:0003593	Infantile onset	3/5	OMIM:137940
54345	SOX18	HP:0003577	Congenital onset	11/15	OMIM:137940
54345	SOX18	HP:0002223	Absent eyebrow	14/14	OMIM:137940
54345	SOX18	HP:0002223	Absent eyebrow	HP:0040281	ORPHA:69735
54345	SOX18	HP:0002223	Absent eyebrow	4/4	OMIM:607823
54345	SOX18	HP:0003550	Predominantly lower limb lymphedema	3/4	OMIM:607823
54345	SOX18	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
54345	SOX18	HP:0003550	Predominantly lower limb lymphedema	HP:0040281	ORPHA:69735
54345	SOX18	HP:0002231	Sparse body hair	HP:0040281	ORPHA:69735
54345	SOX18	HP:0002202	Pleural effusion	HP:0040283	ORPHA:69735
54345	SOX18	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:69735
54345	SOX18	HP:0002209	Sparse scalp hair	4/4	OMIM:607823
54345	SOX18	HP:0002209	Sparse scalp hair	4/4	OMIM:137940
54345	SOX18	HP:0100763	Abnormality of the lymphatic system	HP:0040281	ORPHA:69735
54345	SOX18	HP:0009743	Distichiasis	42/42	OMIM:153400
54345	SOX18	HP:0010648	Dermal translucency	2/4	OMIM:137940
54345	SOX18	HP:0003676	Progressive	-	OMIM:137940
54345	SOX18	HP:0001004	Lymphedema	5/5	OMIM:137940
54345	SOX18	HP:0001004	Lymphedema	-	OMIM:153400
54345	SOX18	HP:0100658	Cellulitis	2/6	OMIM:153400
54345	SOX18	HP:0005598	Facial telangiectasia in butterfly midface distribution	-	OMIM:137940
54345	SOX18	HP:0012622	Chronic kidney disease	-	OMIM:137940
54345	SOX18	HP:0000613	Photophobia	10/49	OMIM:153400
54345	SOX18	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
54345	SOX18	HP:0000656	Ectropion	2/43	OMIM:153400
54345	SOX18	HP:0000653	Sparse eyelashes	-	OMIM:137940
54345	SOX18	HP:0004334	Dermal atrophy	HP:0040283	ORPHA:69735
54345	SOX18	HP:0034197	Third trimester onset	1/5	OMIM:607823
54345	SOX18	HP:0003011	Abnormality of the musculature	-	OMIM:153400
54345	SOX18	HP:0011463	Childhood onset	3/5	OMIM:607823
54345	SOX18	HP:0011461	Fetal onset	1/5	OMIM:137940
54345	SOX18	HP:0000793	Membranoproliferative glomerulonephritis	-	OMIM:137940
54345	SOX18	HP:0003189	Long nose	-	OMIM:137940
54345	SOX18	HP:0012804	Corneal ulceration	-	OMIM:153400
54345	SOX18	HP:0010310	Chylothorax	1/6	OMIM:153400
54345	SOX18	HP:0000971	Abnormal sweat gland morphology	0/5	OMIM:607823
54345	SOX18	HP:0000965	Cutis marmorata	HP:0040282	ORPHA:69735
54345	SOX18	HP:0000963	Thin skin	2/4	OMIM:607823
54345	SOX18	HP:0000962	Hyperkeratosis	-	OMIM:137940
54345	SOX18	HP:0011675	Arrhythmia	-	OMIM:153400
54345	SOX18	HP:0000286	Epicanthus	-	OMIM:137940
54345	SOX18	HP:0001597	Abnormal nail morphology	0/5	OMIM:607823
54345	SOX18	HP:0001596	Alopecia	HP:0040281	ORPHA:69735
54345	SOX18	HP:0001596	Alopecia	1/4	OMIM:607823
54345	SOX18	HP:0001596	Alopecia	-	OMIM:137940
54345	SOX18	HP:0002808	Kyphosis	2/5	OMIM:153400
54345	SOX18	HP:0001541	Ascites	HP:0040283	ORPHA:69735
54345	SOX18	HP:0000204	Cleft upper lip	-	OMIM:153400
54345	SOX18	HP:0006521	Pulmonary lymphangiectasia	-	OMIM:137940
54345	SOX18	HP:0000347	Micrognathia	2/5	OMIM:153400
54345	SOX18	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
54345	SOX18	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
54345	SOX18	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
54345	SOX18	HP:0000300	Oval face	-	OMIM:137940
54345	SOX18	HP:0000303	Mandibular prognathia	-	OMIM:137940
54345	SOX18	HP:0012471	Thick vermilion border	-	OMIM:137940
54345	SOX18	HP:0000476	Cystic hygroma	2/43	OMIM:153400
54345	SOX18	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
54345	SOX18	HP:0001790	Nonimmune hydrops fetalis	1/5	OMIM:137940
54345	SOX18	HP:0001790	Nonimmune hydrops fetalis	1/5	OMIM:607823
54345	SOX18	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
54345	SOX18	HP:0001789	Hydrops fetalis	HP:0040283	ORPHA:69735
54345	SOX18	HP:0000465	Webbed neck	6/43	OMIM:153400
54345	SOX18	HP:0000431	Wide nasal bridge	-	OMIM:137940
54345	SOX18	HP:0000426	Prominent nasal bridge	-	OMIM:137940
54345	SOX18	HP:0000509	Conjunctivitis	-	OMIM:153400
54345	SOX18	HP:0000508	Ptosis	2/39	OMIM:153400
54345	SOX18	HP:0000561	Absent eyelashes	14/14	OMIM:137940
54345	SOX18	HP:0000561	Absent eyelashes	4/4	OMIM:607823
54345	SOX18	HP:0000561	Absent eyelashes	HP:0040281	ORPHA:69735
54345	SOX18	HP:0000568	Microphthalmia	1/6	OMIM:153400
54361	WNT4	HP:0001156	Brachydactyly	HP:0040283	ORPHA:247768
54361	WNT4	HP:0010959	Congenital pulmonary airway malformation	1/3	OMIM:611812
54361	WNT4	HP:0009937	Facial hirsutism	HP:0040281	ORPHA:247768
54361	WNT4	HP:0009890	High anterior hairline	HP:0040281	ORPHA:247768
54361	WNT4	HP:0008684	Aplasia/hypoplasia of the uterus	HP:0040281	ORPHA:2578
54361	WNT4	HP:0000086	Ectopic kidney	HP:0040281	ORPHA:2578
54361	WNT4	HP:0025380	Increased circulating androstenedione concentration	1/1	OMIM:158330
54361	WNT4	HP:0000036	Abnormal penis morphology	HP:0040282	ORPHA:139466
54361	WNT4	HP:0000047	Hypospadias	1/2	OMIM:611812
54361	WNT4	HP:0000047	Hypospadias	HP:0040282	ORPHA:139466
54361	WNT4	HP:0000027	Azoospermia	HP:0040281	ORPHA:2578
54361	WNT4	HP:0000013	Hypoplasia of the uterus	HP:0040281	ORPHA:247768
54361	WNT4	HP:0000007	Autosomal recessive inheritance	-	OMIM:611812
54361	WNT4	HP:0000006	Autosomal dominant inheritance	-	OMIM:158330
54361	WNT4	HP:0000175	Cleft palate	2/3	OMIM:611812
54361	WNT4	HP:0000175	Cleft palate	HP:0040283	ORPHA:247768
54361	WNT4	HP:0000142	Abnormal vagina morphology	HP:0040281	ORPHA:247768
54361	WNT4	HP:0000137	Abnormality of the ovary	HP:0040283	ORPHA:247768
54361	WNT4	HP:0000151	Aplasia of the uterus	1/1	OMIM:158330
54361	WNT4	HP:0410030	Cleft lip	2/3	OMIM:611812
54361	WNT4	HP:0000122	Unilateral renal agenesis	1/1	OMIM:158330
54361	WNT4	HP:0000110	Renal dysplasia	HP:0040281	ORPHA:2578
54361	WNT4	HP:0000104	Renal agenesis	HP:0040283	ORPHA:247768
54361	WNT4	HP:0000104	Renal agenesis	HP:0040281	ORPHA:2578
54361	WNT4	HP:0000104	Renal agenesis	3/3	OMIM:611812
54361	WNT4	HP:0000104	Renal agenesis	HP:0040280	ORPHA:139466
54361	WNT4	HP:0005944	Bilateral lung agenesis	HP:0040281	OMIM:611812
54361	WNT4	HP:0002089	Pulmonary hypoplasia	3/3	OMIM:611812
54361	WNT4	HP:0002089	Pulmonary hypoplasia	HP:0040280	ORPHA:139466
54361	WNT4	HP:0011743	Adrenal gland agenesis	1/2	OMIM:611812
54361	WNT4	HP:0004794	Malrotation of small bowel	HP:0040282	ORPHA:139466
54361	WNT4	HP:0003422	Vertebral segmentation defect	HP:0040282	ORPHA:2578
54361	WNT4	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:2578
54361	WNT4	HP:0034589	Increased circulating dehydroepiandrosterone-sulfate concentration	1/1	OMIM:158330
54361	WNT4	HP:0002292	Frontal balding	HP:0040281	ORPHA:247768
54361	WNT4	HP:0032073	Aplasia of the fallopian tube	1/1	OMIM:158330
54361	WNT4	HP:0001061	Acne	HP:0040281	ORPHA:247768
54361	WNT4	HP:0001061	Acne	1/1	OMIM:158330
54361	WNT4	HP:0001007	Hirsutism	HP:0040281	OMIM:158330
54361	WNT4	HP:0001007	Hirsutism	HP:0040281	ORPHA:247768
54361	WNT4	HP:0000664	Synophrys	HP:0040283	ORPHA:247768
54361	WNT4	HP:0004322	Short stature	HP:0040281	ORPHA:247768
54361	WNT4	HP:0004322	Short stature	HP:0040281	ORPHA:2578
54361	WNT4	HP:0030674	Antenatal onset	3/3	OMIM:611812
54361	WNT4	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:139466
54361	WNT4	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:2578
54361	WNT4	HP:0000776	Congenital diaphragmatic hernia	1/3	OMIM:611812
54361	WNT4	HP:0000776	Congenital diaphragmatic hernia	HP:0040282	ORPHA:139466
54361	WNT4	HP:0000786	Primary amenorrhea	1/1	OMIM:158330
54361	WNT4	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:247768
54361	WNT4	HP:0004415	Pulmonary artery stenosis	1/3	OMIM:611812
54361	WNT4	HP:0000914	Shield chest	HP:0040283	ORPHA:247768
54361	WNT4	HP:0012861	Ovotestis	1/2	OMIM:611812
54361	WNT4	HP:0000834	Abnormality of the adrenal glands	HP:0040282	ORPHA:139466
54361	WNT4	HP:0000811	Abnormal external genitalia morphology	0/1	OMIM:158330
54361	WNT4	HP:0000813	Bicornuate uterus	HP:0040281	ORPHA:2578
54361	WNT4	HP:0003250	Aplasia of the vagina	1/1	OMIM:158330
54361	WNT4	HP:0012245	Sex reversal	HP:0040280	ORPHA:139466
54361	WNT4	HP:0012245	Sex reversal	3/3	OMIM:611812
54361	WNT4	HP:0030088	Increased serum testosterone level	HP:0040281	ORPHA:247768
54361	WNT4	HP:0001562	Oligohydramnios	3/3	OMIM:611812
54361	WNT4	HP:0001562	Oligohydramnios	HP:0040280	ORPHA:139466
54361	WNT4	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:139466
54361	WNT4	HP:0001511	Intrauterine growth retardation	3/3	OMIM:611812
54361	WNT4	HP:0001510	Growth delay	HP:0040280	ORPHA:139466
54361	WNT4	HP:0001513	Obesity	HP:0040282	ORPHA:247768
54361	WNT4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2578
54361	WNT4	HP:0000369	Low-set ears	1/3	OMIM:611812
54361	WNT4	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:139466
54361	WNT4	HP:0000322	Short philtrum	HP:0040283	ORPHA:247768
54361	WNT4	HP:0001629	Ventricular septal defect	1/3	OMIM:611812
54361	WNT4	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:139466
54361	WNT4	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:247768
54361	WNT4	HP:0005343	Hypoplasia of the bladder	HP:0040282	ORPHA:139466
54361	WNT4	HP:0005343	Hypoplasia of the bladder	2/3	OMIM:611812
54361	WNT4	HP:0000470	Short neck	HP:0040281	ORPHA:2578
54361	WNT4	HP:0000470	Short neck	HP:0040283	ORPHA:247768
54361	WNT4	HP:0000411	Protruding ear	HP:0040283	ORPHA:247768
54361	WNT4	HP:0025708	Early young adult onset	1/1	OMIM:158330
54361	WNT4	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:247768
54386	TERF2IP	HP:0003764	Nevus	HP:0040281	ORPHA:618
54386	TERF2IP	HP:0001480	Freckling	HP:0040282	ORPHA:618
54386	TERF2IP	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:618
54386	TERF2IP	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:618
54386	TERF2IP	HP:0100013	Neoplasm of the breast	HP:0040283	ORPHA:618
54386	TERF2IP	HP:0000958	Dry skin	HP:0040282	ORPHA:618
54386	TERF2IP	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:618
54386	TERF2IP	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:618
54386	TERF2IP	HP:0002861	Melanoma	HP:0040281	ORPHA:618
54386	TERF2IP	HP:0000488	Retinopathy	HP:0040283	ORPHA:618
54386	TERF2IP	HP:0006753	Neoplasm of the stomach	HP:0040283	ORPHA:618
54413	NLGN3	HP:0001250	Seizure	HP:0040282	OMIM:300425
54413	NLGN3	HP:0001249	Intellectual disability	-	OMIM:300425
54413	NLGN3	HP:0001417	X-linked inheritance	-	OMIM:300425
54413	NLGN3	HP:0002353	EEG abnormality	-	OMIM:300425
54413	NLGN3	HP:0002332	Lack of peer relationships	-	OMIM:300425
54413	NLGN3	HP:0000758	Abnormal nonverbal communicative behavior	-	OMIM:300425
54413	NLGN3	HP:0000733	Motor stereotypy	-	OMIM:300425
54413	NLGN3	HP:0000732	Inflexible adherence to routines	-	OMIM:300425
54413	NLGN3	HP:0000750	Delayed speech and language development	HP:0040282	OMIM:300425
54413	NLGN3	HP:0000717	Autism	1/2	OMIM:300425
54413	NLGN3	HP:0000723	Restrictive behavior	-	OMIM:300425
54413	NLGN3	HP:0000721	Lack of spontaneous play	-	OMIM:300425
54413	NLGN3	HP:0011463	Childhood onset	1/1	OMIM:300425
54413	NLGN3	HP:0003144	Increased serum serotonin	HP:0040282	OMIM:300425
54440	SASH3	HP:0032218	Decreased proportion of CD4-positive T cells	3/4	OMIM:301082
54440	SASH3	HP:0100806	Sepsis	3/4	OMIM:301082
54440	SASH3	HP:0410378	Decreased naive CD4-positive T cell proportion	5/5	OMIM:301082
54440	SASH3	HP:0410377	Decreased naive CD8 T cell proportion	3/5	OMIM:301082
54440	SASH3	HP:0500265	Increased CD8+ TEMRA T cell proportion	2/4	OMIM:301082
54440	SASH3	HP:0410305	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	0/1	OMIM:301082
54440	SASH3	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	1/1	OMIM:301082
54440	SASH3	HP:0010976	Decreased total B cell count	5/5	OMIM:301082
54440	SASH3	HP:0002783	Recurrent lower respiratory tract infections	4/4	OMIM:301082
54440	SASH3	HP:0002788	Recurrent upper respiratory tract infections	1/1	OMIM:301082
54440	SASH3	HP:0001419	X-linked recessive inheritance	-	OMIM:301082
54440	SASH3	HP:0002720	Decreased circulating IgA concentration	3/4	OMIM:301082
54440	SASH3	HP:0002110	Bronchiectasis	1/5	OMIM:301082
54440	SASH3	HP:0002240	Hepatomegaly	2/4	OMIM:301082
54440	SASH3	HP:0002257	Chronic rhinitis	1/1	OMIM:301082
54440	SASH3	HP:0003581	Adult onset	1/1	OMIM:301082
54440	SASH3	HP:0011954	Nodular regenerative hyperplasia of liver	2/4	OMIM:301082
54440	SASH3	HP:0200043	Verrucae	3/4	OMIM:301082
54440	SASH3	HP:0032154	Aphthous ulcer	2/4	OMIM:301082
54440	SASH3	HP:0032170	Severe varicella zoster infection	1/1	OMIM:301082
54440	SASH3	HP:0001973	Autoimmune thrombocytopenia	3/4	OMIM:301082
54440	SASH3	HP:0001904	Autoimmune neutropenia	3/4	OMIM:301082
54440	SASH3	HP:0001903	Anemia	2/4	OMIM:301082
54440	SASH3	HP:0004315	Decreased circulating IgG concentration	2/5	OMIM:301082
54440	SASH3	HP:0011463	Childhood onset	3/3	OMIM:301082
54440	SASH3	HP:0030783	Increased circulating interleukin 6 concentration	3/3	OMIM:301082
54440	SASH3	HP:0034249	Severe influenza infection	1/1	OMIM:301082
54440	SASH3	HP:0000821	Hypothyroidism	2/4	OMIM:301082
54440	SASH3	HP:0040218	Reduced total natural killer cell count	4/4	OMIM:301082
54440	SASH3	HP:0001581	Recurrent skin infections	2/4	OMIM:301082
54440	SASH3	HP:0002850	Decreased circulating total IgM	4/5	OMIM:301082
54440	SASH3	HP:0011109	Chronic sinusitis	1/1	OMIM:301082
54440	SASH3	HP:0011108	Recurrent sinusitis	3/4	OMIM:301082
54440	SASH3	HP:0001882	Decreased total leukocyte count	4/4	OMIM:301082
54443	ANLN	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
54443	ANLN	HP:0003774	Stage 5 chronic kidney disease	6/6	OMIM:616032
54443	ANLN	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
54443	ANLN	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
54443	ANLN	HP:0000097	Focal segmental glomerulosclerosis	9/9	OMIM:616032
54443	ANLN	HP:0000093	Proteinuria	5/5	OMIM:616032
54443	ANLN	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
54443	ANLN	HP:0000006	Autosomal dominant inheritance	-	OMIM:616032
54443	ANLN	HP:0000100	Nephrotic syndrome	-	OMIM:616032
54443	ANLN	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
54443	ANLN	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
54443	ANLN	HP:0003584	Late onset	1/5	OMIM:616032
54443	ANLN	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
54443	ANLN	HP:0002315	Headache	HP:0040283	ORPHA:656
54443	ANLN	HP:0003621	Juvenile onset	1/5	OMIM:616032
54443	ANLN	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
54443	ANLN	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
54443	ANLN	HP:0001945	Fever	HP:0040283	ORPHA:656
54443	ANLN	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
54443	ANLN	HP:0000737	Irritability	HP:0040283	ORPHA:656
54443	ANLN	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
54443	ANLN	HP:0011462	Young adult onset	3/5	OMIM:616032
54443	ANLN	HP:0000969	Edema	HP:0040281	ORPHA:656
54443	ANLN	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
54443	ANLN	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
54453	RIN2	HP:0001156	Brachydactyly	HP:0040283	OMIM:613075
54453	RIN2	HP:0001156	Brachydactyly	HP:0040283	ORPHA:217335
54453	RIN2	HP:0001252	Hypotonia	3/3	OMIM:613075
54453	RIN2	HP:0008661	Urethral stenosis	1/3	OMIM:613075
54453	RIN2	HP:0001382	Joint hypermobility	4/4	OMIM:613075
54453	RIN2	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:217335
54453	RIN2	HP:0000028	Cryptorchidism	1/3	OMIM:613075
54453	RIN2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:217335
54453	RIN2	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:217335
54453	RIN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613075
54453	RIN2	HP:0002650	Scoliosis	6/7	OMIM:613075
54453	RIN2	HP:0002650	Scoliosis	HP:0040281	ORPHA:217335
54453	RIN2	HP:0000159	Abnormal lip morphology	HP:0040281	ORPHA:217335
54453	RIN2	HP:0100540	Palpebral edema	7/7	OMIM:613075
54453	RIN2	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:217335
54453	RIN2	HP:0002110	Bronchiectasis	HP:0040283	OMIM:613075
54453	RIN2	HP:0008209	Premature ovarian insufficiency	HP:0040283	ORPHA:217335
54453	RIN2	HP:0003593	Infantile onset	1/1	OMIM:613075
54453	RIN2	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:217335
54453	RIN2	HP:0001007	Hirsutism	HP:0040281	ORPHA:217335
54453	RIN2	HP:0007204	Diffuse white matter abnormalities	1/1	OMIM:613075
54453	RIN2	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:217335
54453	RIN2	HP:0004942	Aortic aneurysm	1/3	OMIM:613075
54453	RIN2	HP:0004325	Decreased body weight	-	OMIM:613075
54453	RIN2	HP:0004322	Short stature	-	OMIM:613075
54453	RIN2	HP:0003010	Prolonged bleeding time	3/3	OMIM:613075
54453	RIN2	HP:0000767	Pectus excavatum	2/3	OMIM:613075
54453	RIN2	HP:0000766	Abnormal sternum morphology	HP:0040282	ORPHA:217335
54453	RIN2	HP:0012724	Upper eyelid edema	HP:0040281	ORPHA:217335
54453	RIN2	HP:0000815	Hypergonadotropic hypogonadism	HP:0040283	ORPHA:217335
54453	RIN2	HP:0000815	Hypergonadotropic hypogonadism	HP:0040283	OMIM:613075
54453	RIN2	HP:0040079	Irregular dentition	HP:0040281	ORPHA:217335
54453	RIN2	HP:0040079	Irregular dentition	5/6	OMIM:613075
54453	RIN2	HP:0045075	Sparse eyebrow	1/1	OMIM:613075
54453	RIN2	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:217335
54453	RIN2	HP:0000978	Bruising susceptibility	4/4	OMIM:613075
54453	RIN2	HP:0000977	Soft skin	3/3	OMIM:613075
54453	RIN2	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:217335
54453	RIN2	HP:0000974	Hyperextensible skin	4/4	OMIM:613075
54453	RIN2	HP:0000973	Cutis laxa	-	OMIM:613075
54453	RIN2	HP:0000954	Single transverse palmar crease	HP:0040283	OMIM:613075
54453	RIN2	HP:0000939	Osteoporosis	1/3	OMIM:613075
54453	RIN2	HP:0008070	Sparse hair	6/6	OMIM:613075
54453	RIN2	HP:0008064	Ichthyosis	1/7	OMIM:613075
54453	RIN2	HP:0000286	Epicanthus	1/1	OMIM:613075
54453	RIN2	HP:0000280	Coarse facial features	1/1	OMIM:613075
54453	RIN2	HP:0000280	Coarse facial features	HP:0040281	ORPHA:217335
54453	RIN2	HP:0001596	Alopecia	-	OMIM:613075
54453	RIN2	HP:0000256	Macrocephaly	1/1	OMIM:613075
54453	RIN2	HP:0001582	Redundant skin	HP:0040281	ORPHA:217335
54453	RIN2	HP:0001582	Redundant skin	6/6	OMIM:613075
54453	RIN2	HP:0000218	High palate	4/6	OMIM:613075
54453	RIN2	HP:0000218	High palate	HP:0040281	ORPHA:217335
54453	RIN2	HP:0000212	Gingival overgrowth	HP:0040281	ORPHA:217335
54453	RIN2	HP:0000212	Gingival overgrowth	7/7	OMIM:613075
54453	RIN2	HP:0001537	Umbilical hernia	4/7	OMIM:613075
54453	RIN2	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:217335
54453	RIN2	HP:0012378	Fatigue	3/3	OMIM:613075
54453	RIN2	HP:0011003	High myopia	HP:0040283	ORPHA:217335
54453	RIN2	HP:0011003	High myopia	1/3	OMIM:613075
54453	RIN2	HP:0000343	Long philtrum	4/4	OMIM:613075
54453	RIN2	HP:0000343	Long philtrum	HP:0040281	ORPHA:217335
54453	RIN2	HP:0000348	High forehead	1/1	OMIM:613075
54453	RIN2	HP:0000347	Micrognathia	1/1	OMIM:613075
54453	RIN2	HP:0001620	Abnormally high-pitched voice	HP:0040282	ORPHA:217335
54453	RIN2	HP:0001620	Abnormally high-pitched voice	3/6	OMIM:613075
54453	RIN2	HP:0012471	Thick vermilion border	4/4	OMIM:613075
54453	RIN2	HP:0012472	Eclabion	3/3	OMIM:613075
54453	RIN2	HP:0000494	Downslanted palpebral fissures	7/7	OMIM:613075
54453	RIN2	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:217335
54453	RIN2	HP:0011107	Recurrent aphthous stomatitis	1/3	OMIM:613075
54453	RIN2	HP:0001763	Pes planus	4/4	OMIM:613075
54453	RIN2	HP:0001763	Pes planus	HP:0040281	ORPHA:217335
54453	RIN2	HP:0000431	Wide nasal bridge	1/1	OMIM:613075
54453	RIN2	HP:0011232	Infra-orbital fold	HP:0040281	ORPHA:217335
54453	RIN2	HP:0012520	Dilation of Virchow-Robin spaces	1/1	OMIM:613075
54456	MOV10L1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
54456	MOV10L1	HP:0031038	Spermatogenesis maturation arrest	1/1	OMIM:619878
54456	MOV10L1	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
54456	MOV10L1	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
54456	MOV10L1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619878
54456	MOV10L1	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
54456	MOV10L1	HP:0011961	Non-obstructive azoospermia	2/2	OMIM:619878
54456	MOV10L1	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
54456	MOV10L1	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
54456	MOV10L1	HP:0011462	Young adult onset	2/2	OMIM:619878
54456	MOV10L1	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
54456	MOV10L1	HP:0003251	Male infertility	2/2	OMIM:619878
54463	RETREG1	HP:0001182	Tapered finger	HP:0040281	ORPHA:970
54463	RETREG1	HP:0001290	Generalized hypotonia	-	OMIM:201300
54463	RETREG1	HP:0001284	Areflexia	-	OMIM:201300
54463	RETREG1	HP:0001284	Areflexia	-	OMIM:613115
54463	RETREG1	HP:0001252	Hypotonia	-	OMIM:201300
54463	RETREG1	HP:0001265	Hyporeflexia	-	OMIM:201300
54463	RETREG1	HP:0001265	Hyporeflexia	-	OMIM:613115
54463	RETREG1	HP:0001257	Spasticity	1/1	OMIM:613115
54463	RETREG1	HP:0007340	Lower limb muscle weakness	3/3	OMIM:613115
54463	RETREG1	HP:0000020	Urinary incontinence	-	OMIM:613115
54463	RETREG1	HP:0008872	Feeding difficulties in infancy	-	OMIM:201300
54463	RETREG1	HP:0007460	Autoamputation of digits	-	OMIM:201300
54463	RETREG1	HP:0007460	Autoamputation of digits	-	OMIM:613115
54463	RETREG1	HP:0006121	Acral ulceration	4/4	OMIM:613115
54463	RETREG1	HP:0006121	Acral ulceration	-	OMIM:201300
54463	RETREG1	HP:0002661	Painless fractures due to injury	-	OMIM:201300
54463	RETREG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:201300
54463	RETREG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613115
54463	RETREG1	HP:0002645	Wormian bones	HP:0040281	ORPHA:970
54463	RETREG1	HP:0002797	Osteolysis	HP:0040281	ORPHA:970
54463	RETREG1	HP:0002754	Osteomyelitis	-	OMIM:613115
54463	RETREG1	HP:0002020	Gastroesophageal reflux	-	OMIM:201300
54463	RETREG1	HP:0003307	Hyperlordosis	HP:0040281	ORPHA:970
54463	RETREG1	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:201300
54463	RETREG1	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:970
54463	RETREG1	HP:0003477	Peripheral axonal neuropathy	4/4	OMIM:613115
54463	RETREG1	HP:0003487	Babinski sign	0/1	OMIM:613115
54463	RETREG1	HP:0003448	Decreased sensory nerve conduction velocity	-	OMIM:201300
54463	RETREG1	HP:0003593	Infantile onset	-	OMIM:201300
54463	RETREG1	HP:0008391	Dystrophic fingernails	HP:0040281	ORPHA:970
54463	RETREG1	HP:0001069	Episodic hyperhidrosis	-	OMIM:613115
54463	RETREG1	HP:0001069	Episodic hyperhidrosis	-	OMIM:201300
54463	RETREG1	HP:0002359	Frequent falls	4/4	OMIM:613115
54463	RETREG1	HP:0003676	Progressive	-	OMIM:613115
54463	RETREG1	HP:0003677	Slowly progressive	-	OMIM:201300
54463	RETREG1	HP:0009830	Peripheral neuropathy	-	OMIM:201300
54463	RETREG1	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:201300
54463	RETREG1	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:613115
54463	RETREG1	HP:0003621	Juvenile onset	-	OMIM:613115
54463	RETREG1	HP:0006801	Hyperactive deep tendon reflexes	4/4	OMIM:613115
54463	RETREG1	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:201300
54463	RETREG1	HP:0003028	Abnormality of the ankle	HP:0040281	ORPHA:970
54463	RETREG1	HP:0031936	Delayed ability to walk	2/4	OMIM:613115
54463	RETREG1	HP:0004349	Reduced bone mineral density	HP:0040281	ORPHA:970
54463	RETREG1	HP:0000762	Decreased nerve conduction velocity	-	OMIM:201300
54463	RETREG1	HP:0011463	Childhood onset	4/4	OMIM:613115
54463	RETREG1	HP:0003103	Abnormal cortical bone morphology	HP:0040281	ORPHA:970
54463	RETREG1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:970
54463	RETREG1	HP:0003272	Abnormal hip bone morphology	HP:0040281	ORPHA:970
54463	RETREG1	HP:0008000	Decreased corneal reflex	-	OMIM:201300
54463	RETREG1	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:970
54463	RETREG1	HP:0000970	Anhidrosis	-	OMIM:201300
54463	RETREG1	HP:0002815	Abnormality of the knee	HP:0040281	ORPHA:970
54463	RETREG1	HP:0000224	Hypogeusia	-	OMIM:201300
54463	RETREG1	HP:0002936	Distal sensory impairment	3/4	OMIM:613115
54463	RETREG1	HP:0012407	Scissor gait	3/3	OMIM:613115
54463	RETREG1	HP:0001842	Foot acroosteolysis	HP:0040281	ORPHA:970
54463	RETREG1	HP:0001842	Foot acroosteolysis	-	OMIM:201300
54463	RETREG1	HP:0001818	Paronychia	-	OMIM:201300
54463	RETREG1	HP:0001810	Dystrophic toenail	HP:0040281	ORPHA:970
54463	RETREG1	HP:0001870	Acroosteolysis of distal phalanges (feet)	3/3	OMIM:613115
54471	MIEF1	HP:0001133	Constriction of peripheral visual field	2/2	OMIM:620550
54471	MIEF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620550
54471	MIEF1	HP:0007663	Reduced visual acuity	2/2	OMIM:620550
54471	MIEF1	HP:0003596	Middle age onset	2/2	OMIM:620550
54471	MIEF1	HP:0000543	Optic disc pallor	2/2	OMIM:620550
54476	RNF216	HP:0001272	Cerebellar atrophy	8/10	OMIM:212840
54476	RNF216	HP:0001252	Hypotonia	HP:0040282	ORPHA:1173
54476	RNF216	HP:0001251	Ataxia	12/12	OMIM:212840
54476	RNF216	HP:0001251	Ataxia	HP:0040281	ORPHA:1173
54476	RNF216	HP:0001260	Dysarthria	6/12	OMIM:212840
54476	RNF216	HP:0002558	Supernumerary nipple	HP:0040283	ORPHA:1173
54476	RNF216	HP:0000044	Hypogonadotropic hypogonadism	1/12	OMIM:212840
54476	RNF216	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:1173
54476	RNF216	HP:0000007	Autosomal recessive inheritance	-	OMIM:212840
54476	RNF216	HP:0000144	Decreased fertility	HP:0040281	ORPHA:1173
54476	RNF216	HP:0000135	Hypogonadism	HP:0040281	ORPHA:1173
54476	RNF216	HP:0002072	Chorea	3/12	OMIM:212840
54476	RNF216	HP:0002059	Cerebral atrophy	5/10	OMIM:212840
54476	RNF216	HP:0008197	Absence of pubertal development	6/12	OMIM:212840
54476	RNF216	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1173
54476	RNF216	HP:0003621	Juvenile onset	10/12	OMIM:212840
54476	RNF216	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:1173
54476	RNF216	HP:0000639	Nystagmus	2/12	OMIM:212840
54476	RNF216	HP:0000639	Nystagmus	HP:0040281	ORPHA:1173
54476	RNF216	HP:0000648	Optic atrophy	HP:0040281	ORPHA:1173
54476	RNF216	HP:0004322	Short stature	HP:0040283	ORPHA:1173
54476	RNF216	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:1173
54476	RNF216	HP:0000751	Personality changes	HP:0040283	ORPHA:1173
54476	RNF216	HP:0000771	Gynecomastia	HP:0040281	ORPHA:1173
54476	RNF216	HP:0000726	Dementia	6/12	OMIM:212840
54476	RNF216	HP:0000726	Dementia	HP:0040283	ORPHA:1173
54476	RNF216	HP:0000708	Atypical behavior	HP:0040283	ORPHA:1173
54476	RNF216	HP:0011463	Childhood onset	1/12	OMIM:212840
54476	RNF216	HP:0000786	Primary amenorrhea	1/4	OMIM:212840
54476	RNF216	HP:0000876	Oligomenorrhea	2/4	OMIM:212840
54476	RNF216	HP:0000869	Secondary amenorrhea	2/4	OMIM:212840
54476	RNF216	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040281	ORPHA:1173
54476	RNF216	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1173
54476	RNF216	HP:0000248	Brachycephaly	HP:0040283	ORPHA:1173
54476	RNF216	HP:0025708	Early young adult onset	1/12	OMIM:212840
54476	RNF216	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:1173
54487	DGCR8	HP:0001155	Abnormality of the hand	-	OMIM:192430
54487	DGCR8	HP:0001252	Hypotonia	29/38	OMIM:192430
54487	DGCR8	HP:0001249	Intellectual disability	31/38	OMIM:192430
54487	DGCR8	HP:0000023	Inguinal hernia	3/38	OMIM:192430
54487	DGCR8	HP:0000028	Cryptorchidism	3/38	OMIM:192430
54487	DGCR8	HP:0001328	Specific learning disability	-	OMIM:192430
54487	DGCR8	HP:0000006	Autosomal dominant inheritance	-	OMIM:192430
54487	DGCR8	HP:0002627	Right aortic arch with mirror image branching	-	OMIM:192430
54487	DGCR8	HP:0000194	Open mouth	-	OMIM:192430
54487	DGCR8	HP:0000176	Submucous cleft hard palate	15/38	OMIM:192430
54487	DGCR8	HP:0000175	Cleft palate	7/38	OMIM:192430
54487	DGCR8	HP:0002719	Recurrent infections	-	OMIM:192430
54487	DGCR8	HP:0011840	Abnormality of T cell physiology	2/38	OMIM:192430
54487	DGCR8	HP:0011999	Paranoia	-	OMIM:192430
54487	DGCR8	HP:0004935	Pulmonary artery atresia	2/16	OMIM:192430
54487	DGCR8	HP:0000627	Posterior embryotoxon	-	OMIM:192430
54487	DGCR8	HP:0004322	Short stature	24/38	OMIM:192430
54487	DGCR8	HP:0000718	Aggressive behavior	-	OMIM:192430
54487	DGCR8	HP:0000712	Emotional lability	-	OMIM:192430
54487	DGCR8	HP:0012841	Retinal vascular tortuosity	-	OMIM:192430
54487	DGCR8	HP:0000829	Hypoparathyroidism	3/38	OMIM:192430
54487	DGCR8	HP:0011590	Double aortic arch	1/16	OMIM:192430
54487	DGCR8	HP:0011611	Interrupted aortic arch	2/16	OMIM:192430
54487	DGCR8	HP:0045025	Narrow palpebral fissure	-	OMIM:192430
54487	DGCR8	HP:0000278	Retrognathia	-	OMIM:192430
54487	DGCR8	HP:0000252	Microcephaly	-	OMIM:192430
54487	DGCR8	HP:0000220	Velopharyngeal insufficiency	38/38	OMIM:192430
54487	DGCR8	HP:0001537	Umbilical hernia	2/38	OMIM:192430
54487	DGCR8	HP:0000201	Pierre-Robin sequence	-	OMIM:192430
54487	DGCR8	HP:0006549	Unilateral primary pulmonary dysgenesis	-	OMIM:192430
54487	DGCR8	HP:0001611	Hypernasal speech	-	OMIM:192430
54487	DGCR8	HP:0002901	Hypocalcemia	5/38	OMIM:192430
54487	DGCR8	HP:0001629	Ventricular septal defect	-	OMIM:192430
54487	DGCR8	HP:0001636	Tetralogy of Fallot	3/16	OMIM:192430
54487	DGCR8	HP:0000414	Bulbous nose	-	OMIM:192430
54487	DGCR8	HP:0000430	Underdeveloped nasal alae	-	OMIM:192430
54487	DGCR8	HP:0000598	Abnormality of the ear	-	OMIM:192430
54487	DGCR8	HP:0000581	Blepharophimosis	-	OMIM:192430
54487	DGCR8	HP:0001883	Talipes	4/38	OMIM:192430
54496	PRMT7	HP:0001156	Brachydactyly	4/6	OMIM:617157
54496	PRMT7	HP:0001156	Brachydactyly	HP:0040281	ORPHA:464288
54496	PRMT7	HP:0009933	Narrow naris	1/6	OMIM:617157
54496	PRMT7	HP:0009891	Underdeveloped supraorbital ridges	1/1	OMIM:617157
54496	PRMT7	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:464288
54496	PRMT7	HP:0009882	Short distal phalanx of finger	1/1	OMIM:617157
54496	PRMT7	HP:0001256	Intellectual disability, mild	3/6	OMIM:617157
54496	PRMT7	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:464288
54496	PRMT7	HP:0001250	Seizure	HP:0040282	ORPHA:464288
54496	PRMT7	HP:0001252	Hypotonia	5/6	OMIM:617157
54496	PRMT7	HP:0001249	Intellectual disability	HP:0040281	ORPHA:464288
54496	PRMT7	HP:0001249	Intellectual disability	-	OMIM:617157
54496	PRMT7	HP:0001263	Global developmental delay	HP:0040281	ORPHA:464288
54496	PRMT7	HP:0001263	Global developmental delay	6/6	OMIM:617157
54496	PRMT7	HP:0007359	Focal-onset seizure	1/6	OMIM:617157
54496	PRMT7	HP:0000089	Renal hypoplasia	1/1	OMIM:617157
54496	PRMT7	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:464288
54496	PRMT7	HP:0001328	Specific learning disability	HP:0040282	ORPHA:464288
54496	PRMT7	HP:0000010	Recurrent urinary tract infections	1/1	OMIM:617157
54496	PRMT7	HP:0000007	Autosomal recessive inheritance	-	OMIM:617157
54496	PRMT7	HP:0008947	Floppy infant	HP:0040281	ORPHA:464288
54496	PRMT7	HP:0002020	Gastroesophageal reflux	1/1	OMIM:617157
54496	PRMT7	HP:0002035	Rectal prolapse	1/1	OMIM:617157
54496	PRMT7	HP:0004689	Short fourth metatarsal	HP:0040281	ORPHA:464288
54496	PRMT7	HP:0005989	Redundant neck skin	1/1	OMIM:617157
54496	PRMT7	HP:0002007	Frontal bossing	-	OMIM:617157
54496	PRMT7	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0002144	Tethered cord	1/1	OMIM:617157
54496	PRMT7	HP:0002188	Delayed CNS myelination	1/1	OMIM:617157
54496	PRMT7	HP:0010535	Sleep apnea	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0003577	Congenital onset	1/1	OMIM:617157
54496	PRMT7	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0011968	Feeding difficulties	1/1	OMIM:617157
54496	PRMT7	HP:0007074	Thick corpus callosum	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0010819	Atonic seizure	1/1	OMIM:617157
54496	PRMT7	HP:0010743	Short metatarsal	6/6	OMIM:617157
54496	PRMT7	HP:0000620	Dacryocystitis	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0010049	Short metacarpal	2/6	OMIM:617157
54496	PRMT7	HP:0011344	Severe global developmental delay	1/1	OMIM:617157
54496	PRMT7	HP:0011335	Frontal hirsutism	1/1	OMIM:617157
54496	PRMT7	HP:0000678	Dental crowding	1/6	OMIM:617157
54496	PRMT7	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:464288
54496	PRMT7	HP:0004322	Short stature	6/6	OMIM:617157
54496	PRMT7	HP:0003065	Patellar hypoplasia	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0031936	Delayed ability to walk	6/6	OMIM:617157
54496	PRMT7	HP:0031938	Abnormal conus terminalis morphology	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0012745	Short palpebral fissure	3/6	OMIM:617157
54496	PRMT7	HP:0000736	Short attention span	1/1	OMIM:617157
54496	PRMT7	HP:0000750	Delayed speech and language development	4/4	OMIM:617157
54496	PRMT7	HP:0003196	Short nose	3/6	OMIM:617157
54496	PRMT7	HP:0000924	Abnormality of the skeletal system	HP:0040281	ORPHA:464288
54496	PRMT7	HP:0000852	Pseudohypoparathyroidism	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0000852	Pseudohypoparathyroidism	2/6	OMIM:617157
54496	PRMT7	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0000977	Soft skin	1/6	OMIM:617157
54496	PRMT7	HP:0000964	Eczematoid dermatitis	1/6	OMIM:617157
54496	PRMT7	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:464288
54496	PRMT7	HP:0000960	Sacral dimple	1/1	OMIM:617157
54496	PRMT7	HP:0008070	Sparse hair	1/1	OMIM:617157
54496	PRMT7	HP:0000286	Epicanthus	1/6	OMIM:617157
54496	PRMT7	HP:0000278	Retrognathia	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0000278	Retrognathia	-	OMIM:617157
54496	PRMT7	HP:0000272	Malar flattening	3/6	OMIM:617157
54496	PRMT7	HP:0000252	Microcephaly	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0000252	Microcephaly	1/6	OMIM:617157
54496	PRMT7	HP:0000248	Brachycephaly	1/1	OMIM:617157
54496	PRMT7	HP:0000218	High palate	-	OMIM:617157
54496	PRMT7	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:464288
54496	PRMT7	HP:0001561	Polyhydramnios	1/1	OMIM:617157
54496	PRMT7	HP:0000233	Thin vermilion border	1/1	OMIM:617157
54496	PRMT7	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:464288
54496	PRMT7	HP:0001508	Failure to thrive	1/1	OMIM:617157
54496	PRMT7	HP:0001511	Intrauterine growth retardation	1/1	OMIM:617157
54496	PRMT7	HP:0001513	Obesity	HP:0040282	ORPHA:464288
54496	PRMT7	HP:0001513	Obesity	4/6	OMIM:617157
54496	PRMT7	HP:0000384	Preauricular skin tag	1/6	OMIM:617157
54496	PRMT7	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0012368	Flat face	HP:0040282	ORPHA:464288
54496	PRMT7	HP:0001601	Laryngomalacia	1/1	OMIM:617157
54496	PRMT7	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0000343	Long philtrum	1/1	OMIM:617157
54496	PRMT7	HP:0000343	Long philtrum	HP:0040281	ORPHA:464288
54496	PRMT7	HP:0000316	Hypertelorism	HP:0040282	ORPHA:464288
54496	PRMT7	HP:0000316	Hypertelorism	1/6	OMIM:617157
54496	PRMT7	HP:0002967	Cubitus valgus	1/6	OMIM:617157
54496	PRMT7	HP:0011147	Typical absence seizure	2/6	OMIM:617157
54496	PRMT7	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0005280	Depressed nasal bridge	2/7	OMIM:617157
54496	PRMT7	HP:0000483	Astigmatism	2/6	OMIM:617157
54496	PRMT7	HP:0000486	Strabismus	HP:0040282	ORPHA:464288
54496	PRMT7	HP:0000486	Strabismus	3/6	OMIM:617157
54496	PRMT7	HP:0000490	Deeply set eye	HP:0040281	ORPHA:464288
54496	PRMT7	HP:0000490	Deeply set eye	1/1	OMIM:617157
54496	PRMT7	HP:0000463	Anteverted nares	4/7	OMIM:617157
54496	PRMT7	HP:0000463	Anteverted nares	HP:0040282	ORPHA:464288
54496	PRMT7	HP:0000455	Broad nasal tip	1/6	OMIM:617157
54496	PRMT7	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:464288
54496	PRMT7	HP:0000470	Short neck	1/1	OMIM:617157
54496	PRMT7	HP:0000470	Short neck	HP:0040282	ORPHA:464288
54496	PRMT7	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:464288
54496	PRMT7	HP:0000431	Wide nasal bridge	1/6	OMIM:617157
54496	PRMT7	HP:0000508	Ptosis	1/1	OMIM:617157
54496	PRMT7	HP:0000592	Blue sclerae	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0000589	Coloboma	HP:0040283	ORPHA:464288
54496	PRMT7	HP:0000588	Optic disc coloboma	1/6	OMIM:617157
54496	PRMT7	HP:0011220	Prominent forehead	HP:0040282	ORPHA:464288
54496	PRMT7	HP:0011220	Prominent forehead	1/6	OMIM:617157
54499	TMCO1	HP:0001187	Hyperextensibility of the finger joints	6/11	OMIM:213980
54499	TMCO1	HP:0001162	Postaxial hand polydactyly	-	OMIM:213980
54499	TMCO1	HP:0100807	Long fingers	6/11	OMIM:213980
54499	TMCO1	HP:0001270	Motor delay	-	OMIM:213980
54499	TMCO1	HP:0001288	Gait disturbance	11/11	OMIM:213980
54499	TMCO1	HP:0001252	Hypotonia	11/11	OMIM:213980
54499	TMCO1	HP:0001249	Intellectual disability	-	OMIM:213980
54499	TMCO1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1394
54499	TMCO1	HP:0001265	Hyporeflexia	9/10	OMIM:213980
54499	TMCO1	HP:0002558	Supernumerary nipple	-	OMIM:213980
54499	TMCO1	HP:0002553	Highly arched eyebrow	11/11	OMIM:213980
54499	TMCO1	HP:0001382	Joint hypermobility	HP:0040283	OMIM:213980
54499	TMCO1	HP:0000049	Shawl scrotum	-	OMIM:213980
54499	TMCO1	HP:0000023	Inguinal hernia	-	OMIM:213980
54499	TMCO1	HP:0001363	Craniosynostosis	2/11	OMIM:213980
54499	TMCO1	HP:0008897	Postnatal growth retardation	HP:0040283	OMIM:213980
54499	TMCO1	HP:0001344	Absent speech	HP:0040283	OMIM:213980
54499	TMCO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:213980
54499	TMCO1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040282	ORPHA:1394
54499	TMCO1	HP:0002650	Scoliosis	7/11	OMIM:213980
54499	TMCO1	HP:0002650	Scoliosis	HP:0040282	ORPHA:1394
54499	TMCO1	HP:0001319	Neonatal hypotonia	-	OMIM:213980
54499	TMCO1	HP:0000175	Cleft palate	3/11	OMIM:213980
54499	TMCO1	HP:0000175	Cleft palate	HP:0040283	ORPHA:1394
54499	TMCO1	HP:0000154	Wide mouth	HP:0040281	ORPHA:1394
54499	TMCO1	HP:0006347	Microdontia of primary teeth	11/11	OMIM:213980
54499	TMCO1	HP:0000122	Unilateral renal agenesis	2/11	OMIM:213980
54499	TMCO1	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1394
54499	TMCO1	HP:0002080	Intention tremor	6/11	OMIM:213980
54499	TMCO1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:213980
54499	TMCO1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040281	ORPHA:1394
54499	TMCO1	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:1394
54499	TMCO1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:1394
54499	TMCO1	HP:0003422	Vertebral segmentation defect	HP:0040282	ORPHA:1394
54499	TMCO1	HP:0002162	Low posterior hairline	11/11	OMIM:213980
54499	TMCO1	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:1394
54499	TMCO1	HP:0003577	Congenital onset	11/11	OMIM:213980
54499	TMCO1	HP:0002208	Coarse hair	HP:0040282	ORPHA:1394
54499	TMCO1	HP:0010720	Abnormal hair pattern	HP:0040282	ORPHA:1394
54499	TMCO1	HP:0100790	Hernia	HP:0040282	ORPHA:1394
54499	TMCO1	HP:0002290	Poliosis	-	OMIM:213980
54499	TMCO1	HP:0007018	Attention deficit hyperactivity disorder	1/11	OMIM:213980
54499	TMCO1	HP:0011968	Feeding difficulties	11/11	OMIM:213980
54499	TMCO1	HP:0000664	Synophrys	11/11	OMIM:213980
54499	TMCO1	HP:0000664	Synophrys	HP:0040282	ORPHA:1394
54499	TMCO1	HP:0004322	Short stature	-	OMIM:213980
54499	TMCO1	HP:0004322	Short stature	HP:0040282	ORPHA:1394
54499	TMCO1	HP:0000767	Pectus excavatum	9/11	OMIM:213980
54499	TMCO1	HP:0000739	Anxiety	7/11	OMIM:213980
54499	TMCO1	HP:0000742	Self-mutilation	HP:0040283	OMIM:213980
54499	TMCO1	HP:0000774	Narrow chest	-	OMIM:213980
54499	TMCO1	HP:0000774	Narrow chest	HP:0040281	ORPHA:1394
54499	TMCO1	HP:0003196	Short nose	11/11	OMIM:213980
54499	TMCO1	HP:0003196	Short nose	HP:0040282	ORPHA:1394
54499	TMCO1	HP:0000912	Sprengel anomaly	8/10	OMIM:213980
54499	TMCO1	HP:0000912	Sprengel anomaly	HP:0040282	ORPHA:1394
54499	TMCO1	HP:0000902	Rib fusion	-	OMIM:213980
54499	TMCO1	HP:0000902	Rib fusion	HP:0040281	ORPHA:1394
54499	TMCO1	HP:0000892	Bifid ribs	HP:0040281	ORPHA:1394
54499	TMCO1	HP:0000892	Bifid ribs	-	OMIM:213980
54499	TMCO1	HP:0011504	Bull's eye maculopathy	HP:0040283	OMIM:213980
54499	TMCO1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	OMIM:213980
54499	TMCO1	HP:0004568	Beaking of vertebral bodies	-	OMIM:213980
54499	TMCO1	HP:0000998	Hypertrichosis	7/11	OMIM:213980
54499	TMCO1	HP:0000960	Sacral dimple	-	OMIM:213980
54499	TMCO1	HP:0000286	Epicanthus	-	OMIM:213980
54499	TMCO1	HP:0000286	Epicanthus	HP:0040282	ORPHA:1394
54499	TMCO1	HP:0000294	Low anterior hairline	11/11	OMIM:213980
54499	TMCO1	HP:0000289	Broad philtrum	HP:0040281	ORPHA:1394
54499	TMCO1	HP:0000256	Macrocephaly	9/10	OMIM:213980
54499	TMCO1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:1394
54499	TMCO1	HP:0000252	Microcephaly	HP:0040283	OMIM:213980
54499	TMCO1	HP:0000248	Brachycephaly	11/11	OMIM:213980
54499	TMCO1	HP:0000248	Brachycephaly	HP:0040281	ORPHA:1394
54499	TMCO1	HP:0000218	High palate	11/11	OMIM:213980
54499	TMCO1	HP:0000212	Gingival overgrowth	8/8	OMIM:213980
54499	TMCO1	HP:0001561	Polyhydramnios	4/11	OMIM:213980
54499	TMCO1	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:1394
54499	TMCO1	HP:0001558	Decreased fetal movement	4/11	OMIM:213980
54499	TMCO1	HP:0000204	Cleft upper lip	3/11	OMIM:213980
54499	TMCO1	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:1394
54499	TMCO1	HP:0001520	Large for gestational age	-	OMIM:213980
54499	TMCO1	HP:0012368	Flat face	11/11	OMIM:213980
54499	TMCO1	HP:0002937	Hemivertebrae	-	OMIM:213980
54499	TMCO1	HP:0002937	Hemivertebrae	HP:0040281	ORPHA:1394
54499	TMCO1	HP:0002948	Vertebral fusion	6/11	OMIM:213980
54499	TMCO1	HP:0000358	Posteriorly rotated ears	-	OMIM:213980
54499	TMCO1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:1394
54499	TMCO1	HP:0000369	Low-set ears	11/11	OMIM:213980
54499	TMCO1	HP:0000341	Narrow forehead	-	OMIM:213980
54499	TMCO1	HP:0000347	Micrognathia	-	OMIM:213980
54499	TMCO1	HP:0000316	Hypertelorism	11/11	OMIM:213980
54499	TMCO1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1394
54499	TMCO1	HP:0001643	Patent ductus arteriosus	HP:0040283	OMIM:213980
54499	TMCO1	HP:0000327	Hypoplasia of the maxilla	-	OMIM:213980
54499	TMCO1	HP:0001631	Atrial septal defect	-	OMIM:213980
54499	TMCO1	HP:0006610	Wide intermamillary distance	-	OMIM:213980
54499	TMCO1	HP:0000403	Recurrent otitis media	8/11	OMIM:213980
54499	TMCO1	HP:0000486	Strabismus	5/11	OMIM:213980
54499	TMCO1	HP:0000486	Strabismus	HP:0040282	ORPHA:1394
54499	TMCO1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:1394
54499	TMCO1	HP:0000463	Anteverted nares	11/11	OMIM:213980
54499	TMCO1	HP:0012450	Chronic constipation	7/11	OMIM:213980
54499	TMCO1	HP:0000470	Short neck	6/11	OMIM:213980
54499	TMCO1	HP:0000470	Short neck	HP:0040281	ORPHA:1394
54499	TMCO1	HP:0011108	Recurrent sinusitis	9/11	OMIM:213980
54499	TMCO1	HP:0001763	Pes planus	11/11	OMIM:213980
54499	TMCO1	HP:0000445	Wide nose	-	OMIM:213980
54499	TMCO1	HP:0000445	Wide nose	HP:0040281	ORPHA:1394
54499	TMCO1	HP:0001762	Talipes equinovarus	3/11	OMIM:213980
54499	TMCO1	HP:0000431	Wide nasal bridge	11/11	OMIM:213980
54499	TMCO1	HP:0001845	Overlapping toe	HP:0040283	OMIM:213980
54499	TMCO1	HP:0000527	Long eyelashes	11/11	OMIM:213980
54499	TMCO1	HP:0000508	Ptosis	HP:0040283	OMIM:213980
54499	TMCO1	HP:0000582	Upslanted palpebral fissure	-	OMIM:213980
54499	TMCO1	HP:0000574	Thick eyebrow	11/11	OMIM:213980
54499	TMCO1	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:1394
54507	ADAMTSL4	HP:0009917	Persistent pupillary membrane	2/10	OMIM:225200
54507	ADAMTSL4	HP:0009918	Ectopia pupillae	10/10	OMIM:225200
54507	ADAMTSL4	HP:0009918	Ectopia pupillae	HP:0040283	ORPHA:1885
54507	ADAMTSL4	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1885
54507	ADAMTSL4	HP:0000007	Autosomal recessive inheritance	-	OMIM:225200
54507	ADAMTSL4	HP:0000007	Autosomal recessive inheritance	-	OMIM:225100
54507	ADAMTSL4	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:1885
54507	ADAMTSL4	HP:0001083	Ectopia lentis	5/10	OMIM:225200
54507	ADAMTSL4	HP:0001083	Ectopia lentis	HP:0040281	ORPHA:1885
54507	ADAMTSL4	HP:0001083	Ectopia lentis	-	OMIM:225100
54507	ADAMTSL4	HP:0000639	Nystagmus	HP:0040283	ORPHA:1885
54507	ADAMTSL4	HP:0000646	Amblyopia	HP:0040283	ORPHA:1885
54507	ADAMTSL4	HP:0012805	Iris transillumination defect	5/10	OMIM:225200
54507	ADAMTSL4	HP:0000822	Hypertension	HP:0040283	ORPHA:1885
54507	ADAMTSL4	HP:0000272	Malar flattening	HP:0040282	ORPHA:1885
54507	ADAMTSL4	HP:0011003	High myopia	2/10	OMIM:225200
54507	ADAMTSL4	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:1885
54507	ADAMTSL4	HP:0000518	Cataract	HP:0040283	ORPHA:1885
54507	ADAMTSL4	HP:0000518	Cataract	-	OMIM:225200
54507	ADAMTSL4	HP:0000505	Visual impairment	HP:0040283	ORPHA:1885
54507	ADAMTSL4	HP:0000541	Retinal detachment	1/10	OMIM:225200
54517	PUS7	HP:0003763	Bruxism	1/3	OMIM:618342
54517	PUS7	HP:0001290	Generalized hypotonia	HP:0040284	OMIM:618342
54517	PUS7	HP:0001270	Motor delay	3/6	OMIM:618342
54517	PUS7	HP:0001249	Intellectual disability	9/9	OMIM:618342
54517	PUS7	HP:0001263	Global developmental delay	3/3	OMIM:618342
54517	PUS7	HP:0100876	Infra-orbital crease	2/3	OMIM:618342
54517	PUS7	HP:0002553	Highly arched eyebrow	1/3	OMIM:618342
54517	PUS7	HP:0000007	Autosomal recessive inheritance	-	OMIM:618342
54517	PUS7	HP:0001337	Tremor	1/3	OMIM:618342
54517	PUS7	HP:0000179	Thick lower lip vermilion	1/3	OMIM:618342
54517	PUS7	HP:0000194	Open mouth	-	OMIM:618342
54517	PUS7	HP:0006335	Persistence of primary teeth	1/3	OMIM:618342
54517	PUS7	HP:0003394	Muscle spasm	1/3	OMIM:618342
54517	PUS7	HP:0002057	Prominent glabella	1/3	OMIM:618342
54517	PUS7	HP:0002119	Ventriculomegaly	1/2	OMIM:618342
54517	PUS7	HP:0003593	Infantile onset	2/3	OMIM:618342
54517	PUS7	HP:0002240	Hepatomegaly	1/6	OMIM:618342
54517	PUS7	HP:0007018	Attention deficit hyperactivity disorder	1/3	OMIM:618342
54517	PUS7	HP:0020045	Esodeviation	1/3	OMIM:618342
54517	PUS7	HP:0000678	Dental crowding	1/3	OMIM:618342
54517	PUS7	HP:0000668	Hypodontia	2/5	OMIM:618342
54517	PUS7	HP:0004325	Decreased body weight	4/6	OMIM:618342
54517	PUS7	HP:0004322	Short stature	6/8	OMIM:618342
54517	PUS7	HP:0031936	Delayed ability to walk	-	OMIM:618342
54517	PUS7	HP:0000752	Hyperactivity	1/3	OMIM:618342
54517	PUS7	HP:0000733	Motor stereotypy	1/3	OMIM:618342
54517	PUS7	HP:0000736	Short attention span	1/3	OMIM:618342
54517	PUS7	HP:0000750	Delayed speech and language development	9/9	OMIM:618342
54517	PUS7	HP:0000718	Aggressive behavior	7/8	OMIM:618342
54517	PUS7	HP:0011463	Childhood onset	1/3	OMIM:618342
54517	PUS7	HP:0000286	Epicanthus	-	OMIM:618342
54517	PUS7	HP:0000278	Retrognathia	-	OMIM:618342
54517	PUS7	HP:0000252	Microcephaly	7/8	OMIM:618342
54517	PUS7	HP:0000218	High palate	1/3	OMIM:618342
54517	PUS7	HP:0000232	Everted lower lip vermilion	5/8	OMIM:618342
54517	PUS7	HP:0011095	Overjet	1/3	OMIM:618342
54517	PUS7	HP:0000369	Low-set ears	1/3	OMIM:618342
54517	PUS7	HP:0000347	Micrognathia	1/3	OMIM:618342
54517	PUS7	HP:0000319	Smooth philtrum	6/8	OMIM:618342
54517	PUS7	HP:0000322	Short philtrum	1/3	OMIM:618342
54517	PUS7	HP:0000325	Triangular face	1/3	OMIM:618342
54517	PUS7	HP:0000307	Pointed chin	1/3	OMIM:618342
54517	PUS7	HP:0000407	Sensorineural hearing impairment	2/3	OMIM:618342
54517	PUS7	HP:0012471	Thick vermilion border	3/5	OMIM:618342
54517	PUS7	HP:0000494	Downslanted palpebral fissures	-	OMIM:618342
54517	PUS7	HP:0000490	Deeply set eye	2/3	OMIM:618342
54517	PUS7	HP:0000463	Anteverted nares	2/3	OMIM:618342
54517	PUS7	HP:0012444	Brain atrophy	1/6	OMIM:618342
54517	PUS7	HP:0000411	Protruding ear	1/3	OMIM:618342
54517	PUS7	HP:0000431	Wide nasal bridge	-	OMIM:618342
54532	USP53	HP:0001396	Cholestasis	7/7	OMIM:619658
54532	USP53	HP:0001395	Hepatic fibrosis	4/4	OMIM:619658
54532	USP53	HP:0000007	Autosomal recessive inheritance	-	OMIM:619658
54532	USP53	HP:0410053	Elevated circulating gamma-aminobutyric acid concentration	0/7	OMIM:619658
54532	USP53	HP:0003593	Infantile onset	6/10	OMIM:619658
54532	USP53	HP:0003623	Neonatal onset	1/7	OMIM:619658
54532	USP53	HP:0003621	Juvenile onset	2/7	OMIM:619658
54532	USP53	HP:0031956	Elevated circulating aspartate aminotransferase concentration	3/3	OMIM:619658
54532	USP53	HP:0031964	Elevated circulating alanine aminotransferase concentration	3/3	OMIM:619658
54532	USP53	HP:0011463	Childhood onset	1/7	OMIM:619658
54532	USP53	HP:0003155	Elevated circulating alkaline phosphatase concentration	3/3	OMIM:619658
54532	USP53	HP:0012852	Hepatic bridging fibrosis	1/4	OMIM:619658
54532	USP53	HP:0000989	Pruritus	3/3	OMIM:619658
54532	USP53	HP:0000952	Jaundice	-	OMIM:619658
54532	USP53	HP:0002901	Hypocalcemia	2/3	OMIM:619658
54532	USP53	HP:0000365	Hearing impairment	2/3	OMIM:619658
54532	USP53	HP:0001744	Splenomegaly	4/7	OMIM:619658
54538	ROBO4	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
54538	ROBO4	HP:0000006	Autosomal dominant inheritance	-	OMIM:618496
54538	ROBO4	HP:0002616	Aortic root aneurysm	11/12	OMIM:618496
54538	ROBO4	HP:0004933	Ascending aortic dissection	1/15	OMIM:618496
54538	ROBO4	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
54538	ROBO4	HP:0004467	Preauricular pit	-	OMIM:187500
54538	ROBO4	HP:0000337	Broad forehead	-	OMIM:187500
54538	ROBO4	HP:0001650	Aortic valve stenosis	1/15	OMIM:618496
54538	ROBO4	HP:0001647	Bicuspid aortic valve	10/15	OMIM:618496
54538	ROBO4	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
54538	ROBO4	HP:0001631	Atrial septal defect	1/15	OMIM:618496
54538	ROBO4	HP:0000520	Proptosis	-	OMIM:187500
54539	NDUFB11	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
54539	NDUFB11	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0009939	Mandibular aplasia	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0001274	Agenesis of corpus callosum	1/9	OMIM:309801
54539	NDUFB11	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0001274	Agenesis of corpus callosum	1/2	OMIM:300952
54539	NDUFB11	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0001250	Seizure	1/2	OMIM:300952
54539	NDUFB11	HP:0001250	Seizure	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0001250	Seizure	-	OMIM:309801
54539	NDUFB11	HP:0001252	Hypotonia	1/2	OMIM:300952
54539	NDUFB11	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0001249	Intellectual disability	2/9	OMIM:309801
54539	NDUFB11	HP:0001263	Global developmental delay	1/2	OMIM:300952
54539	NDUFB11	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0001263	Global developmental delay	2/9	OMIM:309801
54539	NDUFB11	HP:0007398	Asymmetric, linear skin defects	11/11	OMIM:309801
54539	NDUFB11	HP:0007398	Asymmetric, linear skin defects	2/2	OMIM:300952
54539	NDUFB11	HP:0008665	Clitoral hypertrophy	-	OMIM:309801
54539	NDUFB11	HP:0008665	Clitoral hypertrophy	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0003811	Neonatal death	1/1	OMIM:301021
54539	NDUFB11	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000041	Chordee	-	OMIM:309801
54539	NDUFB11	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000036	Abnormal penis morphology	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000039	Epispadias	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000054	Micropenis	-	OMIM:309801
54539	NDUFB11	HP:0000047	Hypospadias	-	OMIM:309801
54539	NDUFB11	HP:0000047	Hypospadias	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0001331	Absent septum pellucidum	-	OMIM:309801
54539	NDUFB11	HP:0001331	Absent septum pellucidum	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0001328	Specific learning disability	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0000013	Hypoplasia of the uterus	-	OMIM:309801
54539	NDUFB11	HP:0002623	Overriding aorta	-	OMIM:309801
54539	NDUFB11	HP:0000175	Cleft palate	1/8	OMIM:309801
54539	NDUFB11	HP:0008936	Axial hypotonia	1/2	OMIM:300952
54539	NDUFB11	HP:0007572	Hyperpigmented streaks	1/2	OMIM:300952
54539	NDUFB11	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0001423	X-linked dominant inheritance	-	OMIM:309801
54539	NDUFB11	HP:0001423	X-linked dominant inheritance	-	OMIM:300952
54539	NDUFB11	HP:0001417	X-linked inheritance	-	OMIM:301021
54539	NDUFB11	HP:0002023	Anal atresia	-	OMIM:309801
54539	NDUFB11	HP:0002034	Abnormal rectum morphology	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0011800	Midface retrusion	HP:0040281	ORPHA:2556
54539	NDUFB11	HP:0002098	Respiratory distress	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0002094	Dyspnea	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0010448	Colonic atresia	1/8	OMIM:309801
54539	NDUFB11	HP:0011781	Thyroid C cell hyperplasia	1/2	OMIM:300952
54539	NDUFB11	HP:0011716	Junctional ectopic tachycardia	1/8	OMIM:309801
54539	NDUFB11	HP:0002133	Status epilepticus	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0004756	Ventricular tachycardia	1/2	OMIM:300952
54539	NDUFB11	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
54539	NDUFB11	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:301021
54539	NDUFB11	HP:0010529	Echolalia	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0003577	Congenital onset	1/2	OMIM:300952
54539	NDUFB11	HP:0003577	Congenital onset	1/1	OMIM:301021
54539	NDUFB11	HP:0003577	Congenital onset	11/11	OMIM:309801
54539	NDUFB11	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
54539	NDUFB11	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0003510	Severe short stature	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0002381	Aphasia	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:2556
54539	NDUFB11	HP:0010783	Erythema	HP:0040281	ORPHA:2556
54539	NDUFB11	HP:0002300	Mutism	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000639	Nystagmus	1/2	OMIM:300952
54539	NDUFB11	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0000646	Amblyopia	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000647	Sclerocornea	3/11	OMIM:309801
54539	NDUFB11	HP:0000647	Sclerocornea	0/2	OMIM:300952
54539	NDUFB11	HP:0000647	Sclerocornea	HP:0040281	ORPHA:2556
54539	NDUFB11	HP:0000618	Blindness	HP:0040283	ORPHA:2609
54539	NDUFB11	HP:0000618	Blindness	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000612	Iris coloboma	-	OMIM:309801
54539	NDUFB11	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0000614	Abnormal nasolacrimal system morphology	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0001942	Metabolic acidosis	1/1	OMIM:301021
54539	NDUFB11	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000680	Delayed eruption of primary teeth	1/2	OMIM:300952
54539	NDUFB11	HP:0000659	Peters anomaly	1/11	OMIM:309801
54539	NDUFB11	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0004322	Short stature	3/9	OMIM:309801
54539	NDUFB11	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:2556
54539	NDUFB11	HP:0004327	Abnormal vitreous humor morphology	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0006956	Lateral ventricle dilatation	1/2	OMIM:300952
54539	NDUFB11	HP:0004378	Abnormality of the anus	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0034197	Third trimester onset	1/2	OMIM:300952
54539	NDUFB11	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0000776	Congenital diaphragmatic hernia	HP:0040281	ORPHA:2556
54539	NDUFB11	HP:0000776	Congenital diaphragmatic hernia	-	OMIM:309801
54539	NDUFB11	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0011531	Vitritis	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0012861	Ovotestis	-	OMIM:309801
54539	NDUFB11	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
54539	NDUFB11	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0000954	Single transverse palmar crease	1/8	OMIM:309801
54539	NDUFB11	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:2556
54539	NDUFB11	HP:0000960	Sacral dimple	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:2556
54539	NDUFB11	HP:0011675	Arrhythmia	-	OMIM:309801
54539	NDUFB11	HP:0011675	Arrhythmia	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0000278	Retrognathia	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0007731	Chorioretinal dysplasia	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000238	Hydrocephalus	-	OMIM:309801
54539	NDUFB11	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000252	Microcephaly	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
54539	NDUFB11	HP:0000252	Microcephaly	1/8	OMIM:309801
54539	NDUFB11	HP:0001582	Redundant skin	1/1	OMIM:301021
54539	NDUFB11	HP:0002878	Respiratory failure	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0001545	Anteriorly placed anus	-	OMIM:309801
54539	NDUFB11	HP:0001508	Failure to thrive	1/2	OMIM:300952
54539	NDUFB11	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0030048	Colpocephaly	-	OMIM:309801
54539	NDUFB11	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0001511	Intrauterine growth retardation	1/1	OMIM:301021
54539	NDUFB11	HP:0001510	Growth delay	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0011027	Abnormal fallopian tube morphology	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0005152	Histiocytoid cardiomyopathy	-	OMIM:309801
54539	NDUFB11	HP:0005152	Histiocytoid cardiomyopathy	1/2	OMIM:300952
54539	NDUFB11	HP:0000363	Abnormal earlobe morphology	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000365	Hearing impairment	1/8	OMIM:309801
54539	NDUFB11	HP:0001695	Cardiac arrest	1/2	OMIM:300952
54539	NDUFB11	HP:0011003	High myopia	1/11	OMIM:309801
54539	NDUFB11	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0000347	Micrognathia	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0001644	Dilated cardiomyopathy	1/2	OMIM:300952
54539	NDUFB11	HP:0001663	Ventricular fibrillation	1/2	OMIM:300952
54539	NDUFB11	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0001629	Ventricular septal defect	-	OMIM:309801
54539	NDUFB11	HP:0001622	Premature birth	1/1	OMIM:301021
54539	NDUFB11	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0001635	Congestive heart failure	1/1	OMIM:301021
54539	NDUFB11	HP:0001631	Atrial septal defect	-	OMIM:309801
54539	NDUFB11	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0007957	Corneal opacity	HP:0040281	ORPHA:2556
54539	NDUFB11	HP:0000499	Abnormal eyelash morphology	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0007973	Retinal dysplasia	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0001704	Tricuspid valve prolapse	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000486	Strabismus	1/2	OMIM:300952
54539	NDUFB11	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0000492	Abnormal eyelid morphology	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0000445	Wide nose	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0000518	Cataract	1/11	OMIM:309801
54539	NDUFB11	HP:0000528	Anophthalmia	HP:0040281	ORPHA:2556
54539	NDUFB11	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0000501	Glaucoma	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0011265	Cleft earlobe	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000598	Abnormality of the ear	HP:0040282	ORPHA:2556
54539	NDUFB11	HP:0000580	Pigmentary retinopathy	-	OMIM:309801
54539	NDUFB11	HP:0000556	Retinal dystrophy	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000572	Visual loss	HP:0040283	ORPHA:2556
54539	NDUFB11	HP:0000568	Microphthalmia	10/11	OMIM:309801
54539	NDUFB11	HP:0000568	Microphthalmia	HP:0040281	ORPHA:2556
54539	NDUFB11	HP:0000568	Microphthalmia	0/2	OMIM:300952
54539	NDUFB11	HP:0000564	Lacrimal duct atresia	1/2	OMIM:300952
54539	NDUFB11	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
54539	NDUFB11	HP:0000545	Myopia	1/2	OMIM:300952
54543	TOMM7	HP:0001169	Broad palm	1/1	OMIM:620601
54543	TOMM7	HP:0001252	Hypotonia	1/1	OMIM:620601
54543	TOMM7	HP:0008897	Postnatal growth retardation	2/2	OMIM:620601
54543	TOMM7	HP:0006236	Slender metacarpals	1/1	OMIM:620601
54543	TOMM7	HP:0002673	Coxa valga	1/1	OMIM:620601
54543	TOMM7	HP:0000007	Autosomal recessive inheritance	-	OMIM:620601
54543	TOMM7	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:620601
54543	TOMM7	HP:0007663	Reduced visual acuity	1/1	OMIM:620601
54543	TOMM7	HP:0001414	Microvesicular hepatic steatosis	1/1	OMIM:620601
54543	TOMM7	HP:0003300	Ovoid vertebral bodies	1/1	OMIM:620601
54543	TOMM7	HP:0003593	Infantile onset	2/2	OMIM:620601
54543	TOMM7	HP:0008499	High hypermetropia	1/1	OMIM:620601
54543	TOMM7	HP:0000639	Nystagmus	2/2	OMIM:620601
54543	TOMM7	HP:0000678	Dental crowding	1/1	OMIM:620601
54543	TOMM7	HP:0004322	Short stature	2/2	OMIM:620601
54543	TOMM7	HP:0000774	Narrow chest	1/1	OMIM:620601
54543	TOMM7	HP:0003100	Slender long bone	1/1	OMIM:620601
54543	TOMM7	HP:0000926	Platyspondyly	1/1	OMIM:620601
54543	TOMM7	HP:0004474	Persistent open anterior fontanelle	1/1	OMIM:620601
54543	TOMM7	HP:0000883	Thin ribs	1/1	OMIM:620601
54543	TOMM7	HP:0000957	Cafe-au-lait spot	1/1	OMIM:620601
54543	TOMM7	HP:0008070	Sparse hair	1/1	OMIM:620601
54543	TOMM7	HP:0000337	Broad forehead	1/1	OMIM:620601
54543	TOMM7	HP:0000347	Micrognathia	1/1	OMIM:620601
54543	TOMM7	HP:0000325	Triangular face	1/1	OMIM:620601
54543	TOMM7	HP:0001792	Small nail	1/1	OMIM:620601
54543	TOMM7	HP:0000414	Bulbous nose	1/1	OMIM:620601
54543	TOMM7	HP:0000426	Prominent nasal bridge	1/1	OMIM:620601
54543	TOMM7	HP:0005484	Secondary microcephaly	1/1	OMIM:620601
54543	TOMM7	HP:0000568	Microphthalmia	1/1	OMIM:620601
54551	MAGEL2	HP:0001182	Tapered finger	-	OMIM:615547
54551	MAGEL2	HP:0001156	Brachydactyly	-	OMIM:615547
54551	MAGEL2	HP:0002494	Abnormal rapid eye movement sleep	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0001159	Syndactyly	HP:0040283	OMIM:176270
54551	MAGEL2	HP:0007328	Impaired pain sensation	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0003745	Sporadic	-	OMIM:176270
54551	MAGEL2	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:994
54551	MAGEL2	HP:0001290	Generalized hypotonia	HP:0040281	OMIM:176270
54551	MAGEL2	HP:0001270	Motor delay	HP:0040281	OMIM:176270
54551	MAGEL2	HP:0001270	Motor delay	HP:0040281	ORPHA:398069
54551	MAGEL2	HP:0025237	Confusional arousal	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0001254	Lethargy	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:177901
54551	MAGEL2	HP:0001250	Seizure	31/154	OMIM:176270
54551	MAGEL2	HP:0001250	Seizure	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0001250	Seizure	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0001250	Seizure	HP:0040283	ORPHA:177901
54551	MAGEL2	HP:0001250	Seizure	HP:0040283	OMIM:615547
54551	MAGEL2	HP:0001250	Seizure	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0001252	Hypotonia	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0001252	Hypotonia	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0001252	Hypotonia	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0001249	Intellectual disability	12/12	OMIM:176270
54551	MAGEL2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:398069
54551	MAGEL2	HP:0001249	Intellectual disability	4/4	OMIM:615547
54551	MAGEL2	HP:0002578	Gastroparesis	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0002578	Gastroparesis	HP:0040283	ORPHA:177901
54551	MAGEL2	HP:0002578	Gastroparesis	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0002591	Polyphagia	105/165	OMIM:176270
54551	MAGEL2	HP:0002591	Polyphagia	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0002591	Polyphagia	HP:0040281	ORPHA:177904
54551	MAGEL2	HP:0002591	Polyphagia	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0002591	Polyphagia	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0002591	Polyphagia	HP:0040282	ORPHA:177910
54551	MAGEL2	HP:0002591	Polyphagia	12/14	OMIM:615547
54551	MAGEL2	HP:0001263	Global developmental delay	HP:0040281	OMIM:176270
54551	MAGEL2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:177910
54551	MAGEL2	HP:0001263	Global developmental delay	4/4	OMIM:615547
54551	MAGEL2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:994
54551	MAGEL2	HP:0001262	Excessive daytime somnolence	8/12	OMIM:176270
54551	MAGEL2	HP:0008770	Obsessive-compulsive trait	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0008770	Obsessive-compulsive trait	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0002540	Inability to walk	-	OMIM:615547
54551	MAGEL2	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0000064	Hypoplastic labia minora	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0000060	Clitoral hypoplasia	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	OMIM:176270
54551	MAGEL2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040284	ORPHA:177910
54551	MAGEL2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0000046	Small scrotum	-	OMIM:176270
54551	MAGEL2	HP:0000046	Small scrotum	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0000046	Small scrotum	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0000046	Small scrotum	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0000046	Small scrotum	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0001371	Flexion contracture	HP:0040281	ORPHA:398069
54551	MAGEL2	HP:0001371	Flexion contracture	-	OMIM:615547
54551	MAGEL2	HP:0000054	Micropenis	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0000054	Micropenis	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0000054	Micropenis	-	OMIM:615547
54551	MAGEL2	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0001385	Hip dysplasia	27/90	OMIM:176270
54551	MAGEL2	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:177901
54551	MAGEL2	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0000028	Cryptorchidism	118/130	OMIM:176270
54551	MAGEL2	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:398069
54551	MAGEL2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:994
54551	MAGEL2	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:98754
54551	MAGEL2	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:177904
54551	MAGEL2	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:177901
54551	MAGEL2	HP:0000028	Cryptorchidism	-	OMIM:615547
54551	MAGEL2	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:98754
54551	MAGEL2	HP:0008872	Feeding difficulties in infancy	HP:0040281	OMIM:176270
54551	MAGEL2	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:177904
54551	MAGEL2	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:177901
54551	MAGEL2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:177910
54551	MAGEL2	HP:0007513	Generalized hypopigmentation	-	OMIM:176270
54551	MAGEL2	HP:0031169	Postterm pregnancy	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0031169	Postterm pregnancy	HP:0040283	ORPHA:177901
54551	MAGEL2	HP:0031169	Postterm pregnancy	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0001328	Specific learning disability	HP:0040281	OMIM:176270
54551	MAGEL2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0001344	Absent speech	-	OMIM:615547
54551	MAGEL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:176270
54551	MAGEL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:615547
54551	MAGEL2	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:994
54551	MAGEL2	HP:0002650	Scoliosis	150/180	OMIM:176270
54551	MAGEL2	HP:0002650	Scoliosis	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0002650	Scoliosis	HP:0040282	ORPHA:994
54551	MAGEL2	HP:0002650	Scoliosis	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0002650	Scoliosis	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0002650	Scoliosis	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0002650	Scoliosis	-	OMIM:615547
54551	MAGEL2	HP:0001319	Neonatal hypotonia	244/244	OMIM:176270
54551	MAGEL2	HP:0001319	Neonatal hypotonia	HP:0040281	ORPHA:398069
54551	MAGEL2	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:177910
54551	MAGEL2	HP:0001319	Neonatal hypotonia	3/4	OMIM:615547
54551	MAGEL2	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0031100	Decreased circulating inhibin B concentration	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0031100	Decreased circulating inhibin B concentration	HP:0040283	ORPHA:177901
54551	MAGEL2	HP:0031100	Decreased circulating inhibin B concentration	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0000194	Open mouth	-	OMIM:615547
54551	MAGEL2	HP:0012166	Skin-picking	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0012166	Skin-picking	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0012166	Skin-picking	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0012166	Skin-picking	2/4	OMIM:615547
54551	MAGEL2	HP:0012166	Skin-picking	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0000175	Cleft palate	HP:0040282	ORPHA:994
54551	MAGEL2	HP:0000135	Hypogonadism	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0000135	Hypogonadism	3/4	OMIM:615547
54551	MAGEL2	HP:0008947	Floppy infant	HP:0040281	ORPHA:398069
54551	MAGEL2	HP:0012104	Parietal cortical atrophy	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0012104	Parietal cortical atrophy	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0012104	Parietal cortical atrophy	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0012105	Occipital cortical atrophy	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0012105	Occipital cortical atrophy	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0012105	Occipital cortical atrophy	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0002791	Hypoventilation	-	OMIM:176270
54551	MAGEL2	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0002714	Downturned corners of mouth	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:177901
54551	MAGEL2	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0002020	Gastroesophageal reflux	-	OMIM:615547
54551	MAGEL2	HP:0002019	Constipation	-	OMIM:615547
54551	MAGEL2	HP:0002033	Poor suck	HP:0040281	OMIM:176270
54551	MAGEL2	HP:0002033	Poor suck	HP:0040281	ORPHA:398069
54551	MAGEL2	HP:0002033	Poor suck	3/4	OMIM:615547
54551	MAGEL2	HP:0002007	Frontal bossing	-	OMIM:615547
54551	MAGEL2	HP:0005968	Temperature instability	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0005968	Temperature instability	HP:0040283	OMIM:176270
54551	MAGEL2	HP:0005978	Type II diabetes mellitus	12/82	OMIM:176270
54551	MAGEL2	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:994
54551	MAGEL2	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0030919	Low 5-minute APGAR score	14/244	OMIM:176270
54551	MAGEL2	HP:0030918	Low 1-minute APGAR score	55/244	OMIM:176270
54551	MAGEL2	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:994
54551	MAGEL2	HP:0009466	Radial deviation of finger	HP:0040283	OMIM:176270
54551	MAGEL2	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0008197	Absence of pubertal development	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0040288	Nasogastric tube feeding	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0010489	Absent palmar crease	HP:0040281	ORPHA:994
54551	MAGEL2	HP:0011787	Central hypothyroidism	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0011787	Central hypothyroidism	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0002155	Hypertriglyceridemia	10/66	OMIM:176270
54551	MAGEL2	HP:0002119	Ventriculomegaly	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:98754
54551	MAGEL2	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:177904
54551	MAGEL2	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:177901
54551	MAGEL2	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:994
54551	MAGEL2	HP:0010536	Central sleep apnea	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0010535	Sleep apnea	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0010535	Sleep apnea	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0010535	Sleep apnea	2/4	OMIM:615547
54551	MAGEL2	HP:0003593	Infantile onset	-	OMIM:615547
54551	MAGEL2	HP:0003577	Congenital onset	98/244	OMIM:176270
54551	MAGEL2	HP:0003577	Congenital onset	3/4	OMIM:615547
54551	MAGEL2	HP:0002236	Frontal upsweep of hair	HP:0040283	OMIM:176270
54551	MAGEL2	HP:0100710	Impulsivity	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0100710	Impulsivity	-	OMIM:615547
54551	MAGEL2	HP:0100716	Self-injurious behavior	50/62	OMIM:176270
54551	MAGEL2	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0002205	Recurrent respiratory infections	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0100739	Bulimia	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0100739	Bulimia	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0100739	Bulimia	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0007010	Poor fine motor coordination	HP:0040283	OMIM:176270
54551	MAGEL2	HP:0007015	Poor gross motor coordination	-	OMIM:176270
54551	MAGEL2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:398069
54551	MAGEL2	HP:0011968	Feeding difficulties	3/4	OMIM:615547
54551	MAGEL2	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0001059	Pterygium	HP:0040283	ORPHA:994
54551	MAGEL2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0002360	Sleep abnormality	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0002375	Hypokinesia	HP:0040281	ORPHA:994
54551	MAGEL2	HP:0002342	Intellectual disability, moderate	HP:0040284	ORPHA:98754
54551	MAGEL2	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0001010	Hypopigmentation of the skin	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0001010	Hypopigmentation of the skin	HP:0040284	ORPHA:177910
54551	MAGEL2	HP:0001010	Hypopigmentation of the skin	HP:0040284	ORPHA:98754
54551	MAGEL2	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:177901
54551	MAGEL2	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0200055	Small hand	-	OMIM:176270
54551	MAGEL2	HP:0200055	Small hand	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0200055	Small hand	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0200055	Small hand	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0200055	Small hand	HP:0040282	ORPHA:177910
54551	MAGEL2	HP:0200055	Small hand	1/4	OMIM:615547
54551	MAGEL2	HP:0200055	Small hand	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0033454	Tube feeding	216/244	OMIM:176270
54551	MAGEL2	HP:0010741	Pedal edema	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0010741	Pedal edema	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0010741	Pedal edema	HP:0040283	ORPHA:177901
54551	MAGEL2	HP:0003623	Neonatal onset	1/4	OMIM:615547
54551	MAGEL2	HP:0002304	Akinesia	HP:0040281	ORPHA:994
54551	MAGEL2	HP:0031878	Acromicria	-	OMIM:176270
54551	MAGEL2	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0004283	Narrow palm	HP:0040283	ORPHA:177910
54551	MAGEL2	HP:0004283	Narrow palm	1/4	OMIM:615547
54551	MAGEL2	HP:0004283	Narrow palm	HP:0040281	OMIM:176270
54551	MAGEL2	HP:0005599	Hypopigmentation of hair	HP:0040284	ORPHA:98754
54551	MAGEL2	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0005599	Hypopigmentation of hair	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0005599	Hypopigmentation of hair	HP:0040284	ORPHA:177910
54551	MAGEL2	HP:0004279	Short palm	HP:0040281	OMIM:176270
54551	MAGEL2	HP:0006889	Intellectual disability, borderline	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0006889	Intellectual disability, borderline	HP:0040283	ORPHA:177901
54551	MAGEL2	HP:0006889	Intellectual disability, borderline	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0006889	Intellectual disability, borderline	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0012650	Perisylvian polymicrogyria	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0012650	Perisylvian polymicrogyria	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0012650	Perisylvian polymicrogyria	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0001989	Fetal akinesia sequence	HP:0040281	ORPHA:994
54551	MAGEL2	HP:0001989	Fetal akinesia sequence	HP:0040284	OMIM:615547
54551	MAGEL2	HP:0000670	Carious teeth	HP:0040283	OMIM:176270
54551	MAGEL2	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:398069
54551	MAGEL2	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:177910
54551	MAGEL2	HP:0004324	Increased body weight	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0004322	Short stature	HP:0040281	OMIM:176270
54551	MAGEL2	HP:0004322	Short stature	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0004322	Short stature	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0004322	Short stature	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0004322	Short stature	HP:0040282	ORPHA:177910
54551	MAGEL2	HP:0004322	Short stature	2/4	OMIM:615547
54551	MAGEL2	HP:0004322	Short stature	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0031936	Delayed ability to walk	-	OMIM:615547
54551	MAGEL2	HP:0012745	Short palpebral fissure	-	OMIM:615547
54551	MAGEL2	HP:0012743	Abdominal obesity	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0012743	Abdominal obesity	-	OMIM:176270
54551	MAGEL2	HP:0000750	Delayed speech and language development	HP:0040281	OMIM:176270
54551	MAGEL2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0000750	Delayed speech and language development	-	OMIM:615547
54551	MAGEL2	HP:0000717	Autism	210/786	OMIM:176270
54551	MAGEL2	HP:0000717	Autism	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0000717	Autism	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0000717	Autism	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0000729	Autistic behavior	4/4	OMIM:615547
54551	MAGEL2	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0000709	Psychosis	18/92	OMIM:176270
54551	MAGEL2	HP:0000709	Psychosis	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0000709	Psychosis	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0000709	Psychosis	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0000709	Psychosis	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0000708	Atypical behavior	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:177910
54551	MAGEL2	HP:0011461	Fetal onset	146/244	OMIM:176270
54551	MAGEL2	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:398069
54551	MAGEL2	HP:0000789	Infertility	HP:0040281	OMIM:176270
54551	MAGEL2	HP:0000789	Infertility	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0000789	Infertility	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0000789	Infertility	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0000789	Infertility	HP:0040281	ORPHA:398069
54551	MAGEL2	HP:0000786	Primary amenorrhea	1/7	OMIM:176270
54551	MAGEL2	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0003124	Hypercholesterolemia	42/66	OMIM:176270
54551	MAGEL2	HP:0003199	Decreased muscle mass	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0000876	Oligomenorrhea	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0000846	Adrenal insufficiency	1/82	OMIM:176270
54551	MAGEL2	HP:0000842	Hyperinsulinemia	-	OMIM:176270
54551	MAGEL2	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0000826	Precocious puberty	-	OMIM:176270
54551	MAGEL2	HP:0000826	Precocious puberty	HP:0040284	ORPHA:98754
54551	MAGEL2	HP:0000826	Precocious puberty	HP:0040284	ORPHA:177904
54551	MAGEL2	HP:0000826	Precocious puberty	HP:0040284	ORPHA:177901
54551	MAGEL2	HP:0000826	Precocious puberty	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040281	OMIM:176270
54551	MAGEL2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0000823	Delayed puberty	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0000823	Delayed puberty	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0000823	Delayed puberty	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0000823	Delayed puberty	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0040030	Chorioretinal hypopigmentation	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0003233	Decreased HDL cholesterol concentration	23/66	OMIM:176270
54551	MAGEL2	HP:0003241	External genital hypoplasia	HP:0040281	OMIM:176270
54551	MAGEL2	HP:0003241	External genital hypoplasia	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0003241	External genital hypoplasia	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0003241	External genital hypoplasia	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0003241	External genital hypoplasia	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0003241	External genital hypoplasia	HP:0040284	ORPHA:177910
54551	MAGEL2	HP:0000992	Cutaneous photosensitivity	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0000969	Edema	9/12	OMIM:176270
54551	MAGEL2	HP:0000939	Osteoporosis	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0000939	Osteoporosis	2/12	OMIM:176270
54551	MAGEL2	HP:0000939	Osteoporosis	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0000939	Osteoporosis	HP:0040283	ORPHA:177901
54551	MAGEL2	HP:0000939	Osteoporosis	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0000938	Osteopenia	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0000938	Osteopenia	HP:0040283	OMIM:176270
54551	MAGEL2	HP:0000938	Osteopenia	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0000938	Osteopenia	HP:0040283	ORPHA:177901
54551	MAGEL2	HP:0000938	Osteopenia	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0000288	Abnormality of the philtrum	-	OMIM:615547
54551	MAGEL2	HP:0000280	Coarse facial features	-	OMIM:615547
54551	MAGEL2	HP:0000278	Retrognathia	-	OMIM:615547
54551	MAGEL2	HP:0000268	Dolichocephaly	-	OMIM:176270
54551	MAGEL2	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0007730	Iris hypopigmentation	HP:0040284	ORPHA:177910
54551	MAGEL2	HP:0007730	Iris hypopigmentation	HP:0040284	ORPHA:98754
54551	MAGEL2	HP:0002828	Multiple joint contractures	HP:0040281	ORPHA:994
54551	MAGEL2	HP:0030084	Clinodactyly	-	OMIM:176270
54551	MAGEL2	HP:0030084	Clinodactyly	-	OMIM:615547
54551	MAGEL2	HP:0002808	Kyphosis	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0002808	Kyphosis	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0002808	Kyphosis	-	OMIM:615547
54551	MAGEL2	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	OMIM:615547
54551	MAGEL2	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:994
54551	MAGEL2	HP:0000217	Xerostomia	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0000219	Thin upper lip vermilion	15/20	OMIM:176270
54551	MAGEL2	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:177901
54551	MAGEL2	HP:0001562	Oligohydramnios	16/244	OMIM:176270
54551	MAGEL2	HP:0001561	Polyhydramnios	57/244	OMIM:176270
54551	MAGEL2	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:994
54551	MAGEL2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0001558	Decreased fetal movement	146/244	OMIM:176270
54551	MAGEL2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:177901
54551	MAGEL2	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:177910
54551	MAGEL2	HP:0001558	Decreased fetal movement	-	OMIM:615547
54551	MAGEL2	HP:0025501	Class III obesity	90/165	OMIM:176270
54551	MAGEL2	HP:0001531	Failure to thrive in infancy	HP:0040281	OMIM:176270
54551	MAGEL2	HP:0001531	Failure to thrive in infancy	-	OMIM:615547
54551	MAGEL2	HP:0002857	Genu valgum	-	OMIM:176270
54551	MAGEL2	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:177901
54551	MAGEL2	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0002871	Central apnea	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0002871	Central apnea	HP:0040283	ORPHA:177901
54551	MAGEL2	HP:0002871	Central apnea	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0001518	Small for gestational age	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0001518	Small for gestational age	HP:0040283	ORPHA:177904
54551	MAGEL2	HP:0001518	Small for gestational age	HP:0040283	ORPHA:177901
54551	MAGEL2	HP:0001511	Intrauterine growth retardation	50/244	OMIM:176270
54551	MAGEL2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:994
54551	MAGEL2	HP:0001513	Obesity	HP:0040281	ORPHA:98754
54551	MAGEL2	HP:0001513	Obesity	85/180	OMIM:176270
54551	MAGEL2	HP:0001513	Obesity	HP:0040281	ORPHA:177904
54551	MAGEL2	HP:0001513	Obesity	HP:0040281	ORPHA:177901
54551	MAGEL2	HP:0001513	Obesity	HP:0040282	ORPHA:177910
54551	MAGEL2	HP:0001513	Obesity	-	OMIM:615547
54551	MAGEL2	HP:0031507	Decreased circulating T4 concentration	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0031507	Decreased circulating T4 concentration	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0031507	Decreased circulating T4 concentration	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0012385	Camptodactyly	2/4	OMIM:615547
54551	MAGEL2	HP:0005245	Intestinal hypoplasia	HP:0040283	ORPHA:994
54551	MAGEL2	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0007874	Almond-shaped palpebral fissure	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0007874	Almond-shaped palpebral fissure	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0001612	Weak cry	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0001612	Weak cry	3/4	OMIM:615547
54551	MAGEL2	HP:0001611	Hypernasal speech	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:994
54551	MAGEL2	HP:0000369	Low-set ears	-	OMIM:615547
54551	MAGEL2	HP:0000341	Narrow forehead	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0000341	Narrow forehead	1/4	OMIM:615547
54551	MAGEL2	HP:0000347	Micrognathia	HP:0040281	ORPHA:994
54551	MAGEL2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:994
54551	MAGEL2	HP:0001623	Breech presentation	70/244	OMIM:176270
54551	MAGEL2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0000303	Mandibular prognathia	-	OMIM:615547
54551	MAGEL2	HP:0004039	Abnormal ulnar metaphysis morphology	HP:0040283	ORPHA:177910
54551	MAGEL2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:994
54551	MAGEL2	HP:0000486	Strabismus	-	OMIM:176270
54551	MAGEL2	HP:0000486	Strabismus	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0000486	Strabismus	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0000486	Strabismus	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0000486	Strabismus	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0000476	Cystic hygroma	HP:0040282	ORPHA:994
54551	MAGEL2	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0012450	Chronic constipation	5/12	OMIM:176270
54551	MAGEL2	HP:0012450	Chronic constipation	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0001773	Short foot	HP:0040281	OMIM:176270
54551	MAGEL2	HP:0001773	Short foot	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0001773	Short foot	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0001773	Short foot	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0001773	Short foot	HP:0040282	ORPHA:177910
54551	MAGEL2	HP:0001773	Short foot	-	OMIM:615547
54551	MAGEL2	HP:0001773	Short foot	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0012411	Premature pubarche	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0012411	Premature pubarche	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0012411	Premature pubarche	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0012411	Premature pubarche	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0012412	Premature adrenarche	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0012412	Premature adrenarche	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0012412	Premature adrenarche	HP:0040283	ORPHA:98754
54551	MAGEL2	HP:0000446	Narrow nasal bridge	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0000446	Narrow nasal bridge	HP:0040282	OMIM:176270
54551	MAGEL2	HP:0012506	Small pituitary gland	HP:0040282	ORPHA:398069
54551	MAGEL2	HP:0001838	Rocker bottom foot	-	OMIM:615547
54551	MAGEL2	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0030339	Decreased circulating gonadotropin concentration	HP:0040282	ORPHA:177904
54551	MAGEL2	HP:0030339	Decreased circulating gonadotropin concentration	HP:0040282	ORPHA:177901
54551	MAGEL2	HP:0030339	Decreased circulating gonadotropin concentration	HP:0040282	ORPHA:98754
54551	MAGEL2	HP:0000582	Upslanted palpebral fissure	HP:0040283	OMIM:176270
54551	MAGEL2	HP:0000574	Thick eyebrow	-	OMIM:615547
54551	MAGEL2	HP:0000565	Esotropia	HP:0040283	OMIM:176270
54551	MAGEL2	HP:0000565	Esotropia	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0000565	Esotropia	-	OMIM:615547
54551	MAGEL2	HP:0000540	Hypermetropia	-	OMIM:176270
54551	MAGEL2	HP:0000545	Myopia	HP:0040283	OMIM:176270
54551	MAGEL2	HP:0000545	Myopia	HP:0040283	ORPHA:398069
54551	MAGEL2	HP:0000545	Myopia	-	OMIM:615547
54567	DLL4	HP:0001171	Split hand	HP:0040282	ORPHA:974
54567	DLL4	HP:0001156	Brachydactyly	8/23	OMIM:616589
54567	DLL4	HP:0001156	Brachydactyly	HP:0040282	ORPHA:974
54567	DLL4	HP:0001159	Syndactyly	4/23	OMIM:616589
54567	DLL4	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:974
54567	DLL4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
54567	DLL4	HP:0001293	Cranial nerve compression	-	OMIM:131300
54567	DLL4	HP:0001276	Hypertonia	HP:0040283	ORPHA:974
54567	DLL4	HP:0001269	Hemiparesis	HP:0040283	ORPHA:974
54567	DLL4	HP:0001250	Seizure	HP:0040283	ORPHA:974
54567	DLL4	HP:0001252	Hypotonia	2/7	OMIM:615777
54567	DLL4	HP:0001249	Intellectual disability	HP:0040283	ORPHA:974
54567	DLL4	HP:0001249	Intellectual disability	5/7	OMIM:615777
54567	DLL4	HP:0001263	Global developmental delay	-	OMIM:615777
54567	DLL4	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:1114
54567	DLL4	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:974
54567	DLL4	HP:0007383	Congenital localized absence of skin	HP:0040281	ORPHA:1114
54567	DLL4	HP:0007385	Aplasia cutis congenita of scalp	16/23	OMIM:616589
54567	DLL4	HP:0002515	Waddling gait	54/102	OMIM:131300
54567	DLL4	HP:0000089	Renal hypoplasia	1/23	OMIM:616589
54567	DLL4	HP:0001395	Hepatic fibrosis	1/23	OMIM:616589
54567	DLL4	HP:0001394	Cirrhosis	HP:0040283	ORPHA:974
54567	DLL4	HP:0001382	Joint hypermobility	-	OMIM:615777
54567	DLL4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
54567	DLL4	HP:0001362	Calvarial skull defect	3/23	OMIM:616589
54567	DLL4	HP:0001362	Calvarial skull defect	HP:0040281	ORPHA:1114
54567	DLL4	HP:0001362	Calvarial skull defect	HP:0040281	ORPHA:974
54567	DLL4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
54567	DLL4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
54567	DLL4	HP:0001324	Muscle weakness	40/96	OMIM:131300
54567	DLL4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
54567	DLL4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
54567	DLL4	HP:0000006	Autosomal dominant inheritance	-	OMIM:616589
54567	DLL4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
54567	DLL4	HP:0002650	Scoliosis	12/14	OMIM:131300
54567	DLL4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
54567	DLL4	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:974
54567	DLL4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
54567	DLL4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
54567	DLL4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
54567	DLL4	HP:0000175	Cleft palate	2/7	OMIM:615777
54567	DLL4	HP:0001409	Portal hypertension	HP:0040283	ORPHA:974
54567	DLL4	HP:0001409	Portal hypertension	1/23	OMIM:616589
54567	DLL4	HP:0002084	Encephalocele	HP:0040283	ORPHA:974
54567	DLL4	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:974
54567	DLL4	HP:0002040	Esophageal varix	1/23	OMIM:616589
54567	DLL4	HP:0002040	Esophageal varix	HP:0040283	ORPHA:974
54567	DLL4	HP:0003388	Easy fatigability	36/76	OMIM:131300
54567	DLL4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
54567	DLL4	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:974
54567	DLL4	HP:0002132	Porencephalic cyst	HP:0040283	ORPHA:974
54567	DLL4	HP:0003577	Congenital onset	23/23	OMIM:616589
54567	DLL4	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:974
54567	DLL4	HP:0010628	Facial palsy	HP:0040283	ORPHA:1114
54567	DLL4	HP:0010624	Aplastic/hypoplastic toenail	HP:0040283	ORPHA:974
54567	DLL4	HP:0003510	Severe short stature	7/7	OMIM:615777
54567	DLL4	HP:0001057	Aplasia cutis congenita	HP:0040281	ORPHA:1114
54567	DLL4	HP:0001057	Aplasia cutis congenita	HP:0040281	ORPHA:974
54567	DLL4	HP:0002353	EEG abnormality	HP:0040283	ORPHA:974
54567	DLL4	HP:0002315	Headache	-	OMIM:131300
54567	DLL4	HP:0004976	Knee dislocation	6/7	OMIM:615777
54567	DLL4	HP:0009803	Short phalanx of finger	-	OMIM:615777
54567	DLL4	HP:0200042	Skin ulcer	HP:0040282	ORPHA:1114
54567	DLL4	HP:0010783	Erythema	HP:0040283	ORPHA:1114
54567	DLL4	HP:0010760	Absent toe	HP:0040281	ORPHA:974
54567	DLL4	HP:0009763	Limb pain	63/92	OMIM:131300
54567	DLL4	HP:0004935	Pulmonary artery atresia	HP:0040282	ORPHA:974
54567	DLL4	HP:0003621	Juvenile onset	-	OMIM:131300
54567	DLL4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
54567	DLL4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
54567	DLL4	HP:6001056	Out-toeing	-	OMIM:131300
54567	DLL4	HP:0000651	Diplopia	-	OMIM:131300
54567	DLL4	HP:0001956	Truncal obesity	2/7	OMIM:615777
54567	DLL4	HP:0001903	Anemia	HP:0040283	OMIM:131300
54567	DLL4	HP:0010049	Short metacarpal	-	OMIM:615777
54567	DLL4	HP:0000678	Dental crowding	-	OMIM:615777
54567	DLL4	HP:0000670	Carious teeth	-	OMIM:131300
54567	DLL4	HP:0011304	Broad thumb	2/7	OMIM:615777
54567	DLL4	HP:0000668	Hypodontia	-	OMIM:615777
54567	DLL4	HP:0000664	Synophrys	-	OMIM:615777
54567	DLL4	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:974
54567	DLL4	HP:0004396	Poor appetite	-	OMIM:131300
54567	DLL4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
54567	DLL4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
54567	DLL4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
54567	DLL4	HP:0003010	Prolonged bleeding time	HP:0040283	ORPHA:1114
54567	DLL4	HP:0003026	Short long bone	7/7	OMIM:615777
54567	DLL4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
54567	DLL4	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:1114
54567	DLL4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
54567	DLL4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
54567	DLL4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
54567	DLL4	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:974
54567	DLL4	HP:0000750	Delayed speech and language development	-	OMIM:615777
54567	DLL4	HP:0011461	Fetal onset	7/7	OMIM:615777
54567	DLL4	HP:0000774	Narrow chest	2/7	OMIM:615777
54567	DLL4	HP:0000926	Platyspondyly	1/7	OMIM:615777
54567	DLL4	HP:0003180	Flat acetabular roof	-	OMIM:615777
54567	DLL4	HP:0004482	Relative macrocephaly	-	OMIM:615777
54567	DLL4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
54567	DLL4	HP:0004471	Aplasia cutis congenita over the scalp vertex	HP:0040281	ORPHA:1114
54567	DLL4	HP:5200061	Tactile hypersensitivity	HP:0040283	ORPHA:1114
54567	DLL4	HP:0000823	Delayed puberty	-	OMIM:131300
54567	DLL4	HP:0000894	Short clavicles	-	OMIM:615777
54567	DLL4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
54567	DLL4	HP:0010301	Spinal dysraphism	HP:0040281	ORPHA:1114
54567	DLL4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
54567	DLL4	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:974
54567	DLL4	HP:0000965	Cutis marmorata	2/23	OMIM:616589
54567	DLL4	HP:0008070	Sparse hair	HP:0040281	ORPHA:974
54567	DLL4	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:974
54567	DLL4	HP:0000286	Epicanthus	1/7	OMIM:615777
54567	DLL4	HP:0000280	Coarse facial features	2/7	OMIM:615777
54567	DLL4	HP:0001596	Alopecia	HP:0040283	ORPHA:974
54567	DLL4	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:974
54567	DLL4	HP:0002814	Abnormality of the lower limb	HP:0040281	ORPHA:974
54567	DLL4	HP:0002827	Hip dislocation	3/7	OMIM:615777
54567	DLL4	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:974
54567	DLL4	HP:0000252	Microcephaly	-	OMIM:615777
54567	DLL4	HP:0002857	Genu valgum	-	OMIM:131300
54567	DLL4	HP:0001541	Ascites	HP:0040283	ORPHA:974
54567	DLL4	HP:0001533	Slender build	-	OMIM:131300
54567	DLL4	HP:0001508	Failure to thrive	HP:0040281	ORPHA:974
54567	DLL4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
54567	DLL4	HP:0007807	Optic nerve compression	-	OMIM:131300
54567	DLL4	HP:0012368	Flat face	7/7	OMIM:615777
54567	DLL4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
54567	DLL4	HP:0005180	Tricuspid regurgitation	1/23	OMIM:616589
54567	DLL4	HP:0000365	Hearing impairment	10/67	OMIM:131300
54567	DLL4	HP:0000343	Long philtrum	1/7	OMIM:615777
54567	DLL4	HP:0011001	Increased bone mineral density	-	OMIM:131300
54567	DLL4	HP:0000311	Round face	2/7	OMIM:615777
54567	DLL4	HP:0001660	Truncus arteriosus	1/23	OMIM:616589
54567	DLL4	HP:0001629	Ventricular septal defect	2/23	OMIM:616589
54567	DLL4	HP:0001622	Premature birth	HP:0040283	ORPHA:974
54567	DLL4	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:974
54567	DLL4	HP:0002970	Genu varum	-	OMIM:615777
54567	DLL4	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:974
54567	DLL4	HP:0000303	Mandibular prognathia	-	OMIM:131300
54567	DLL4	HP:0004050	Absent hand	HP:0040281	ORPHA:974
54567	DLL4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
54567	DLL4	HP:0000486	Strabismus	HP:0040282	ORPHA:974
54567	DLL4	HP:0000470	Short neck	1/7	OMIM:615777
54567	DLL4	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:1114
54567	DLL4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
54567	DLL4	HP:0001763	Pes planus	1/7	OMIM:615777
54567	DLL4	HP:0001744	Splenomegaly	1/23	OMIM:616589
54567	DLL4	HP:0001849	Foot oligodactyly	1/23	OMIM:616589
54567	DLL4	HP:0000518	Cataract	HP:0040282	ORPHA:974
54567	DLL4	HP:0001840	Metatarsus adductus	-	OMIM:615777
54567	DLL4	HP:0000520	Proptosis	2/4	OMIM:131300
54567	DLL4	HP:0000520	Proptosis	7/7	OMIM:615777
54567	DLL4	HP:0001804	Hypoplastic fingernail	HP:0040283	ORPHA:974
54567	DLL4	HP:0001800	Hypoplastic toenails	1/23	OMIM:616589
54567	DLL4	HP:0001817	Absent fingernail	HP:0040283	ORPHA:974
54567	DLL4	HP:0000592	Blue sclerae	2/7	OMIM:615777
54567	DLL4	HP:0000568	Microphthalmia	HP:0040282	ORPHA:974
54567	DLL4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
54567	DLL4	HP:0001883	Talipes	HP:0040282	ORPHA:974
54567	DLL4	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:974
54567	DLL4	HP:0012514	Lower limb pain	4/4	OMIM:131300
54567	DLL4	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:974
54583	EGLN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:609820
54583	EGLN1	HP:0001900	Increased circulating hemoglobin concentration	-	OMIM:609820
54583	EGLN1	HP:0001899	Increased hematocrit	-	OMIM:609820
54583	EGLN1	HP:0001898	Increased red blood cell mass	-	OMIM:609820
54585	LZTFL1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0001156	Brachydactyly	1/2	OMIM:615994
54585	LZTFL1	HP:0001162	Postaxial hand polydactyly	2/2	OMIM:615994
54585	LZTFL1	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
54585	LZTFL1	HP:0003774	Stage 5 chronic kidney disease	3/4	OMIM:615994
54585	LZTFL1	HP:0001250	Seizure	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0001251	Ataxia	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0001249	Intellectual disability	2/2	OMIM:615994
54585	LZTFL1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0001263	Global developmental delay	2/2	OMIM:615994
54585	LZTFL1	HP:0001257	Spasticity	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0007401	Macular atrophy	1/2	OMIM:615994
54585	LZTFL1	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000054	Micropenis	2/2	OMIM:615994
54585	LZTFL1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0006159	Mesoaxial hand polydactyly	2/2	OMIM:615994
54585	LZTFL1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615994
54585	LZTFL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
54585	LZTFL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
54585	LZTFL1	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
54585	LZTFL1	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
54585	LZTFL1	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000135	Hypogonadism	2/2	OMIM:615994
54585	LZTFL1	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
54585	LZTFL1	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
54585	LZTFL1	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000107	Renal cyst	1/2	OMIM:615994
54585	LZTFL1	HP:0000103	Polyuria	2/2	OMIM:615994
54585	LZTFL1	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
54585	LZTFL1	HP:0004689	Short fourth metatarsal	1/2	OMIM:615994
54585	LZTFL1	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0100543	Cognitive impairment	1/1	OMIM:615994
54585	LZTFL1	HP:0002099	Asthma	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0010442	Polydactyly	2/2	OMIM:615994
54585	LZTFL1	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0003577	Congenital onset	2/2	OMIM:615994
54585	LZTFL1	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
54585	LZTFL1	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0002370	Poor coordination	1/2	OMIM:615994
54585	LZTFL1	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0003621	Juvenile onset	8/19	OMIM:180100
54585	LZTFL1	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000618	Blindness	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000613	Photophobia	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0001959	Polydipsia	3/4	OMIM:615994
54585	LZTFL1	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000691	Microdontia	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000662	Nyctalopia	26/28	OMIM:180100
54585	LZTFL1	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0004322	Short stature	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000739	Anxiety	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000736	Short attention span	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000716	Depression	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000717	Autism	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0011463	Childhood onset	3/19	OMIM:180100
54585	LZTFL1	HP:0011462	Young adult onset	8/19	OMIM:180100
54585	LZTFL1	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
54585	LZTFL1	HP:0000789	Infertility	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
54585	LZTFL1	HP:0004409	Hyposmia	1/2	OMIM:615994
54585	LZTFL1	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000822	Hypertension	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0100260	Mesoaxial polydactyly	1/2	OMIM:615994
54585	LZTFL1	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0007737	Bone spicule pigmentation of the retina	1/2	OMIM:615994
54585	LZTFL1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
54585	LZTFL1	HP:0000218	High palate	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0001513	Obesity	HP:0040281	ORPHA:110
54585	LZTFL1	HP:0001513	Obesity	2/2	OMIM:615994
54585	LZTFL1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
54585	LZTFL1	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000388	Otitis media	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0001696	Situs inversus totalis	2/2	OMIM:615994
54585	LZTFL1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0001651	Dextrocardia	2/2	OMIM:615994
54585	LZTFL1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
54585	LZTFL1	HP:0000400	Macrotia	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000486	Strabismus	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000458	Anosmia	1/2	OMIM:615994
54585	LZTFL1	HP:0000470	Short neck	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000518	Cataract	HP:0040283	ORPHA:110
54585	LZTFL1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
54585	LZTFL1	HP:0000510	Rod-cone dystrophy	2/2	OMIM:615994
54585	LZTFL1	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000505	Visual impairment	2/2	OMIM:615994
54585	LZTFL1	HP:0001830	Postaxial foot polydactyly	2/2	OMIM:615994
54585	LZTFL1	HP:0000575	Scotoma	5/18	OMIM:180100
54585	LZTFL1	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
54585	LZTFL1	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
54585	LZTFL1	HP:0000546	Retinal degeneration	1/1	OMIM:615994
54585	LZTFL1	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
54585	LZTFL1	HP:0000548	Cone/cone-rod dystrophy	1/2	OMIM:615994
54585	LZTFL1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
54585	LZTFL1	HP:0000545	Myopia	-	OMIM:180100
54658	UGT1A1	HP:0001298	Encephalopathy	-	OMIM:218800
54658	UGT1A1	HP:6000617	Reduced tissue UDP-glucuronyl-transferase activity	-	OMIM:606785
54658	UGT1A1	HP:0001250	Seizure	HP:0040283	ORPHA:79234
54658	UGT1A1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:79234
54658	UGT1A1	HP:0001399	Hepatic failure	0/20	OMIM:143500
54658	UGT1A1	HP:0001392	Abnormality of the liver	HP:0040281	ORPHA:79234
54658	UGT1A1	HP:0001343	Kernicterus	-	OMIM:218800
54658	UGT1A1	HP:0001343	Kernicterus	-	OMIM:237900
54658	UGT1A1	HP:0001343	Kernicterus	HP:0040281	ORPHA:79234
54658	UGT1A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:606785
54658	UGT1A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:218800
54658	UGT1A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:237900
54658	UGT1A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:143500
54658	UGT1A1	HP:0001337	Tremor	HP:0040283	ORPHA:79234
54658	UGT1A1	HP:0008947	Floppy infant	HP:0040281	ORPHA:79234
54658	UGT1A1	HP:0008176	Neonatal unconjugated hyperbilirubinemia	-	OMIM:237900
54658	UGT1A1	HP:0008282	Unconjugated hyperbilirubinemia	58/58	OMIM:218800
54658	UGT1A1	HP:0008282	Unconjugated hyperbilirubinemia	8/8	OMIM:606785
54658	UGT1A1	HP:0008282	Unconjugated hyperbilirubinemia	HP:0040281	ORPHA:79234
54658	UGT1A1	HP:0008282	Unconjugated hyperbilirubinemia	HP:0040281	ORPHA:79235
54658	UGT1A1	HP:0008282	Unconjugated hyperbilirubinemia	20/20	OMIM:143500
54658	UGT1A1	HP:0003577	Congenital onset	11/11	OMIM:218800
54658	UGT1A1	HP:0002354	Memory impairment	HP:0040283	ORPHA:79234
54658	UGT1A1	HP:0001080	Biliary tract abnormality	HP:0040281	ORPHA:79234
54658	UGT1A1	HP:0003623	Neonatal onset	-	OMIM:237900
54658	UGT1A1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:79234
54658	UGT1A1	HP:0003265	Neonatal hyperbilirubinemia	HP:0040281	ORPHA:79234
54658	UGT1A1	HP:0003265	Neonatal hyperbilirubinemia	HP:0040281	ORPHA:79235
54658	UGT1A1	HP:0000952	Jaundice	-	OMIM:143500
54658	UGT1A1	HP:0000952	Jaundice	-	OMIM:237900
54658	UGT1A1	HP:0000952	Jaundice	7/7	OMIM:606785
54658	UGT1A1	HP:0000952	Jaundice	58/58	OMIM:218800
54658	UGT1A1	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:79234
54658	UGT1A1	HP:0006579	Prolonged neonatal jaundice	HP:0040281	ORPHA:79234
54658	UGT1A1	HP:0006579	Prolonged neonatal jaundice	HP:0040281	ORPHA:79235
54658	UGT1A1	HP:0002910	Elevated circulating hepatic transaminase concentration	0/20	OMIM:143500
54658	UGT1A1	HP:0002910	Elevated circulating hepatic transaminase concentration	0/7	OMIM:606785
54658	UGT1A1	HP:0002910	Elevated circulating hepatic transaminase concentration	0/1	OMIM:218800
54658	UGT1A1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:79234
54664	TMEM106B	HP:0001152	Saccadic smooth pursuit	1/4	OMIM:617964
54664	TMEM106B	HP:0002493	Upper motor neuron dysfunction	HP:0040283	ORPHA:275864
54664	TMEM106B	HP:0002465	Poor speech	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0002442	Dyscalculia	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0002446	Astrocytosis	HP:0040283	ORPHA:275864
54664	TMEM106B	HP:0002446	Astrocytosis	HP:0040283	ORPHA:100070
54664	TMEM106B	HP:0007256	Abnormal pyramidal sign	1/4	OMIM:617964
54664	TMEM106B	HP:0002415	Leukodystrophy	-	OMIM:617964
54664	TMEM106B	HP:0002427	Expressive aphasia	HP:0040283	ORPHA:100070
54664	TMEM106B	HP:0001297	Stroke	-	ORPHA:100070
54664	TMEM106B	HP:0001276	Hypertonia	1/4	OMIM:617964
54664	TMEM106B	HP:0001268	Mental deterioration	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0001268	Mental deterioration	HP:0040281	ORPHA:100070
54664	TMEM106B	HP:0001288	Gait disturbance	HP:0040283	ORPHA:275864
54664	TMEM106B	HP:0001250	Seizure	2/4	OMIM:617964
54664	TMEM106B	HP:0001252	Hypotonia	2/4	OMIM:617964
54664	TMEM106B	HP:0001249	Intellectual disability	1/4	OMIM:617964
54664	TMEM106B	HP:0001266	Choreoathetosis	1/4	OMIM:617964
54664	TMEM106B	HP:0001260	Dysarthria	1/4	OMIM:617964
54664	TMEM106B	HP:0001263	Global developmental delay	2/4	OMIM:617964
54664	TMEM106B	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:275864
54664	TMEM106B	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:100070
54664	TMEM106B	HP:0012043	Pendular nystagmus	1/4	OMIM:617964
54664	TMEM106B	HP:0001348	Brisk reflexes	2/4	OMIM:617964
54664	TMEM106B	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:275864
54664	TMEM106B	HP:0001347	Hyperreflexia	-	OMIM:617964
54664	TMEM106B	HP:0001332	Dystonia	-	OMIM:617964
54664	TMEM106B	HP:0001344	Absent speech	1/4	OMIM:617964
54664	TMEM106B	HP:0000006	Autosomal dominant inheritance	-	OMIM:617964
54664	TMEM106B	HP:0001310	Dysmetria	1/4	OMIM:617964
54664	TMEM106B	HP:0001300	Parkinsonism	HP:0040283	ORPHA:100070
54664	TMEM106B	HP:0025403	Stooped posture	1/4	OMIM:617964
54664	TMEM106B	HP:0002080	Intention tremor	2/4	OMIM:617964
54664	TMEM106B	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:275864
54664	TMEM106B	HP:0002066	Gait ataxia	2/4	OMIM:617964
54664	TMEM106B	HP:0002079	Hypoplasia of the corpus callosum	3/4	OMIM:617964
54664	TMEM106B	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:275864
54664	TMEM106B	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:100070
54664	TMEM106B	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:100070
54664	TMEM106B	HP:0002136	Broad-based gait	-	OMIM:617964
54664	TMEM106B	HP:0002188	Delayed CNS myelination	4/4	OMIM:617964
54664	TMEM106B	HP:0002186	Apraxia	HP:0040282	ORPHA:100070
54664	TMEM106B	HP:0002185	Neurofibrillary tangles	-	ORPHA:100070
54664	TMEM106B	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:100069
54664	TMEM106B	HP:0010544	Vertical nystagmus	1/4	OMIM:617964
54664	TMEM106B	HP:0010529	Echolalia	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0010522	Dyslexia	HP:0040282	ORPHA:100069
54664	TMEM106B	HP:0010522	Dyslexia	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0010526	Dysgraphia	HP:0040282	ORPHA:100069
54664	TMEM106B	HP:0010526	Dysgraphia	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0010526	Dysgraphia	HP:0040283	ORPHA:100070
54664	TMEM106B	HP:0010523	Alexia	HP:0040282	ORPHA:100069
54664	TMEM106B	HP:0010523	Alexia	HP:0040282	ORPHA:100070
54664	TMEM106B	HP:0003593	Infantile onset	3/4	OMIM:617964
54664	TMEM106B	HP:0003577	Congenital onset	1/4	OMIM:617964
54664	TMEM106B	HP:0011968	Feeding difficulties	1/4	OMIM:617964
54664	TMEM106B	HP:0002380	Fasciculations	HP:0040283	ORPHA:275864
54664	TMEM106B	HP:0002381	Aphasia	HP:0040281	ORPHA:100069
54664	TMEM106B	HP:0002381	Aphasia	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0002381	Aphasia	HP:0040281	ORPHA:100070
54664	TMEM106B	HP:0002366	Abnormal lower motor neuron morphology	HP:0040283	ORPHA:100070
54664	TMEM106B	HP:0002362	Shuffling gait	1/4	OMIM:617964
54664	TMEM106B	HP:0002371	Loss of speech	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0002354	Memory impairment	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0002354	Memory impairment	HP:0040281	ORPHA:100070
54664	TMEM106B	HP:0007112	Temporal cortical atrophy	HP:0040281	ORPHA:100070
54664	TMEM106B	HP:0002300	Mutism	HP:0040283	ORPHA:275864
54664	TMEM106B	HP:0002300	Mutism	HP:0040283	ORPHA:100070
54664	TMEM106B	HP:0006892	Frontotemporal cerebral atrophy	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0006892	Frontotemporal cerebral atrophy	HP:0040281	ORPHA:100070
54664	TMEM106B	HP:0000640	Gaze-evoked nystagmus	1/4	OMIM:617964
54664	TMEM106B	HP:0000639	Nystagmus	4/4	OMIM:617964
54664	TMEM106B	HP:0012671	Abulia	HP:0040282	ORPHA:100069
54664	TMEM106B	HP:0012671	Abulia	HP:0040283	ORPHA:275864
54664	TMEM106B	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:275864
54664	TMEM106B	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:100070
54664	TMEM106B	HP:0000666	Horizontal nystagmus	1/4	OMIM:617964
54664	TMEM106B	HP:0006977	Deficit in grammar	HP:0040281	ORPHA:100070
54664	TMEM106B	HP:0030692	Brain neoplasm	-	ORPHA:100070
54664	TMEM106B	HP:0031936	Delayed ability to walk	1/4	OMIM:617964
54664	TMEM106B	HP:0000757	Lack of insight	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0000751	Personality changes	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0000751	Personality changes	HP:0040283	ORPHA:100070
54664	TMEM106B	HP:0000737	Irritability	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0000739	Anxiety	HP:0040282	ORPHA:100070
54664	TMEM106B	HP:0000734	Disinhibition	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0000733	Motor stereotypy	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0000750	Delayed speech and language development	-	OMIM:617964
54664	TMEM106B	HP:0000741	Apathy	HP:0040283	ORPHA:275864
54664	TMEM106B	HP:0000719	Inappropriate behavior	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0000716	Depression	HP:0040282	ORPHA:100070
54664	TMEM106B	HP:0000718	Aggressive behavior	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0000711	Restlessness	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0000711	Restlessness	HP:0040283	ORPHA:100070
54664	TMEM106B	HP:0000710	Hyperorality	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0000726	Dementia	HP:0040282	ORPHA:100069
54664	TMEM106B	HP:0000723	Restrictive behavior	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0000709	Psychosis	1/4	OMIM:617964
54664	TMEM106B	HP:0000709	Psychosis	HP:0040283	ORPHA:275864
54664	TMEM106B	HP:0000708	Atypical behavior	HP:0040283	ORPHA:100070
54664	TMEM106B	HP:0000708	Atypical behavior	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0030784	Anomic aphasia	HP:0040281	ORPHA:100069
54664	TMEM106B	HP:0100315	Lewy bodies	-	ORPHA:100070
54664	TMEM106B	HP:0100256	Senile plaques	HP:0040283	ORPHA:100070
54664	TMEM106B	HP:0001583	Rotary nystagmus	1/4	OMIM:617964
54664	TMEM106B	HP:0001508	Failure to thrive	1/4	OMIM:617964
54664	TMEM106B	HP:0007811	Horizontal pendular nystagmus	1/4	OMIM:617964
54664	TMEM106B	HP:0030213	Emotional dearth	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0030212	Collectionism	HP:0040282	ORPHA:275864
54664	TMEM106B	HP:0030223	Perseverative thought	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0030223	Perseverative thought	HP:0040283	ORPHA:100070
54664	TMEM106B	HP:0030222	Visual agnosia	HP:0040281	ORPHA:100069
54664	TMEM106B	HP:0012444	Brain atrophy	HP:0040281	ORPHA:100069
54664	TMEM106B	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:275864
54664	TMEM106B	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:100070
54664	TMEM106B	HP:0011204	EEG with continuous slow activity	HP:0040282	ORPHA:275864
54664	TMEM106B	HP:0011204	EEG with continuous slow activity	HP:0040282	ORPHA:100070
54664	TMEM106B	HP:0030391	Spoken word recognition deficit	HP:0040281	ORPHA:100070
54664	TMEM106B	HP:0000543	Optic disc pallor	1/4	OMIM:617964
54675	CRLS1	HP:0001250	Seizure	1/4	OMIM:620167
54675	CRLS1	HP:0001252	Hypotonia	3/4	OMIM:620167
54675	CRLS1	HP:0001263	Global developmental delay	1/1	OMIM:620167
54675	CRLS1	HP:0003811	Neonatal death	1/4	OMIM:620167
54675	CRLS1	HP:0001332	Dystonia	2/4	OMIM:620167
54675	CRLS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620167
54675	CRLS1	HP:0001336	Myoclonus	2/4	OMIM:620167
54675	CRLS1	HP:0007663	Reduced visual acuity	1/4	OMIM:620167
54675	CRLS1	HP:0002059	Cerebral atrophy	2/4	OMIM:620167
54675	CRLS1	HP:0002104	Apnea	1/4	OMIM:620167
54675	CRLS1	HP:0011924	Decreased activity of mitochondrial complex III	1/1	OMIM:620167
54675	CRLS1	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:620167
54675	CRLS1	HP:0003593	Infantile onset	1/4	OMIM:620167
54675	CRLS1	HP:0200134	Epileptic encephalopathy	1/4	OMIM:620167
54675	CRLS1	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:620167
54675	CRLS1	HP:0011968	Feeding difficulties	1/4	OMIM:620167
54675	CRLS1	HP:0002376	Developmental regression	1/1	OMIM:620167
54675	CRLS1	HP:0009806	Nephrogenic diabetes insipidus	1/4	OMIM:620167
54675	CRLS1	HP:0007110	Central hypoventilation	1/4	OMIM:620167
54675	CRLS1	HP:0003623	Neonatal onset	2/4	OMIM:620167
54675	CRLS1	HP:0000639	Nystagmus	1/4	OMIM:620167
54675	CRLS1	HP:0001955	Unexplained fevers	1/4	OMIM:620167
54675	CRLS1	HP:0034197	Third trimester onset	1/4	OMIM:620167
54675	CRLS1	HP:0000710	Hyperorality	1/4	OMIM:620167
54675	CRLS1	HP:0034295	Reduced cerebral white matter volume	1/4	OMIM:620167
54675	CRLS1	HP:0000873	Diabetes insipidus	1/4	OMIM:620167
54675	CRLS1	HP:0011504	Bull's eye maculopathy	3/4	OMIM:620167
54675	CRLS1	HP:0000863	Central diabetes insipidus	1/4	OMIM:620167
54675	CRLS1	HP:0011664	Left ventricular noncompaction cardiomyopathy	1/4	OMIM:620167
54675	CRLS1	HP:0001522	Death in infancy	2/4	OMIM:620167
54675	CRLS1	HP:0001518	Small for gestational age	1/4	OMIM:620167
54675	CRLS1	HP:0025676	Fetal pleural effusion	1/4	OMIM:620167
54675	CRLS1	HP:0001695	Cardiac arrest	1/4	OMIM:620167
54675	CRLS1	HP:0001639	Hypertrophic cardiomyopathy	1/4	OMIM:620167
54675	CRLS1	HP:0000407	Sensorineural hearing impairment	1/4	OMIM:620167
54675	CRLS1	HP:0001790	Nonimmune hydrops fetalis	1/4	OMIM:620167
54675	CRLS1	HP:0005484	Secondary microcephaly	1/4	OMIM:620167
54676	GTPBP2	HP:0001188	Hand clenching	1/3	OMIM:617988
54676	GTPBP2	HP:0002460	Distal muscle weakness	2/3	OMIM:617988
54676	GTPBP2	HP:0001270	Motor delay	3/3	OMIM:617988
54676	GTPBP2	HP:0001252	Hypotonia	2/3	OMIM:617988
54676	GTPBP2	HP:0001249	Intellectual disability	3/3	OMIM:617988
54676	GTPBP2	HP:0001266	Choreoathetosis	1/3	OMIM:617988
54676	GTPBP2	HP:0001263	Global developmental delay	3/3	OMIM:617988
54676	GTPBP2	HP:0002540	Inability to walk	3/3	OMIM:617988
54676	GTPBP2	HP:0001387	Joint stiffness	1/3	OMIM:617988
54676	GTPBP2	HP:0001382	Joint hypermobility	1/3	OMIM:617988
54676	GTPBP2	HP:0001348	Brisk reflexes	2/2	OMIM:617988
54676	GTPBP2	HP:0001332	Dystonia	0/3	OMIM:617988
54676	GTPBP2	HP:0001324	Muscle weakness	2/3	OMIM:617988
54676	GTPBP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617988
54676	GTPBP2	HP:0001337	Tremor	1/3	OMIM:617988
54676	GTPBP2	HP:0001310	Dysmetria	3/3	OMIM:617988
54676	GTPBP2	HP:0001305	Dandy-Walker malformation	1/3	OMIM:617988
54676	GTPBP2	HP:0002650	Scoliosis	5/6	OMIM:617988
54676	GTPBP2	HP:0002069	Bilateral tonic-clonic seizure	1/3	OMIM:617988
54676	GTPBP2	HP:0002066	Gait ataxia	3/3	OMIM:617988
54676	GTPBP2	HP:0002079	Hypoplasia of the corpus callosum	2/3	OMIM:617988
54676	GTPBP2	HP:0002136	Broad-based gait	3/3	OMIM:617988
54676	GTPBP2	HP:0003593	Infantile onset	3/3	OMIM:617988
54676	GTPBP2	HP:0002213	Fine hair	3/3	OMIM:617988
54676	GTPBP2	HP:0002299	Brittle hair	3/3	OMIM:617988
54676	GTPBP2	HP:0006855	Cerebellar vermis atrophy	3/3	OMIM:617988
54676	GTPBP2	HP:0000648	Optic atrophy	1/3	OMIM:617988
54676	GTPBP2	HP:0011344	Severe global developmental delay	3/3	OMIM:617988
54676	GTPBP2	HP:0000653	Sparse eyelashes	1/3	OMIM:617988
54676	GTPBP2	HP:0000768	Pectus carinatum	1/3	OMIM:617988
54676	GTPBP2	HP:0011463	Childhood onset	3/3	OMIM:617988
54676	GTPBP2	HP:0003196	Short nose	1/3	OMIM:617988
54676	GTPBP2	HP:0033048	Substantia nigra hypointensity on susceptibility-weighted imaging	3/3	OMIM:617988
54676	GTPBP2	HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	3/3	OMIM:617988
54676	GTPBP2	HP:0045075	Sparse eyebrow	2/3	OMIM:617988
54676	GTPBP2	HP:0034353	Appendicular spasticity	1/3	OMIM:617988
54676	GTPBP2	HP:0008070	Sparse hair	1/3	OMIM:617988
54676	GTPBP2	HP:0002808	Kyphosis	-	OMIM:617988
54676	GTPBP2	HP:0000252	Microcephaly	3/3	OMIM:617988
54676	GTPBP2	HP:0000207	Triangular mouth	1/3	OMIM:617988
54676	GTPBP2	HP:0001508	Failure to thrive	1/3	OMIM:617988
54676	GTPBP2	HP:0000369	Low-set ears	1/3	OMIM:617988
54676	GTPBP2	HP:0000341	Narrow forehead	1/3	OMIM:617988
54676	GTPBP2	HP:0005280	Depressed nasal bridge	1/3	OMIM:617988
54676	GTPBP2	HP:0000411	Protruding ear	1/3	OMIM:617988
54676	GTPBP2	HP:0001762	Talipes equinovarus	1/3	OMIM:617988
54676	GTPBP2	HP:0000518	Cataract	1/3	OMIM:617988
54676	GTPBP2	HP:0000505	Visual impairment	-	OMIM:617988
54676	GTPBP2	HP:0000545	Myopia	1/3	OMIM:617988
54681	P4HTM	HP:0010864	Intellectual disability, severe	HP:0040280	ORPHA:436141
54681	P4HTM	HP:0001290	Generalized hypotonia	6/6	OMIM:618493
54681	P4HTM	HP:0001288	Gait disturbance	HP:0040282	ORPHA:436141
54681	P4HTM	HP:0001250	Seizure	HP:0040282	ORPHA:436141
54681	P4HTM	HP:0001250	Seizure	4/6	OMIM:618493
54681	P4HTM	HP:0001252	Hypotonia	HP:0040280	ORPHA:436141
54681	P4HTM	HP:0001263	Global developmental delay	6/6	OMIM:618493
54681	P4HTM	HP:0002540	Inability to walk	2/6	OMIM:618493
54681	P4HTM	HP:0006094	Finger joint hypermobility	6/6	OMIM:618493
54681	P4HTM	HP:0006094	Finger joint hypermobility	HP:0040280	ORPHA:436141
54681	P4HTM	HP:0012043	Pendular nystagmus	1/6	OMIM:618493
54681	P4HTM	HP:0000007	Autosomal recessive inheritance	-	OMIM:618493
54681	P4HTM	HP:0002650	Scoliosis	1/6	OMIM:618493
54681	P4HTM	HP:0002791	Hypoventilation	-	OMIM:618493
54681	P4HTM	HP:0002019	Constipation	-	OMIM:618493
54681	P4HTM	HP:0002045	Hypothermia	-	OMIM:618493
54681	P4HTM	HP:0002187	Intellectual disability, profound	6/6	OMIM:618493
54681	P4HTM	HP:0010535	Sleep apnea	-	OMIM:618493
54681	P4HTM	HP:0003593	Infantile onset	-	OMIM:618493
54681	P4HTM	HP:0100704	Cerebral visual impairment	-	OMIM:618493
54681	P4HTM	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:436141
54681	P4HTM	HP:0002317	Unsteady gait	-	OMIM:618493
54681	P4HTM	HP:0000646	Amblyopia	-	OMIM:618493
54681	P4HTM	HP:0000648	Optic atrophy	-	OMIM:618493
54681	P4HTM	HP:0001945	Fever	-	OMIM:618493
54681	P4HTM	HP:0004322	Short stature	HP:0040284	OMIM:618493
54681	P4HTM	HP:0003028	Abnormality of the ankle	HP:0040280	ORPHA:436141
54681	P4HTM	HP:0004370	Abnormality of temperature regulation	-	OMIM:618493
54681	P4HTM	HP:0031936	Delayed ability to walk	-	OMIM:618493
54681	P4HTM	HP:0003273	Hip contracture	4/4	OMIM:618493
54681	P4HTM	HP:0000280	Coarse facial features	HP:0040280	ORPHA:436141
54681	P4HTM	HP:0000280	Coarse facial features	6/6	OMIM:618493
54681	P4HTM	HP:0002808	Kyphosis	2/6	OMIM:618493
54681	P4HTM	HP:0000252	Microcephaly	HP:0040284	OMIM:618493
54681	P4HTM	HP:0002857	Genu valgum	HP:0040280	ORPHA:436141
54681	P4HTM	HP:0002857	Genu valgum	6/6	OMIM:618493
54681	P4HTM	HP:0001513	Obesity	HP:0040281	ORPHA:436141
54681	P4HTM	HP:0001513	Obesity	5/6	OMIM:618493
54681	P4HTM	HP:0006532	Recurrent pneumonia	-	OMIM:618493
54681	P4HTM	HP:0002987	Elbow flexion contracture	6/6	OMIM:618493
54681	P4HTM	HP:0000303	Mandibular prognathia	-	OMIM:618493
54681	P4HTM	HP:0011185	EEG with focal epileptiform discharges	1/6	OMIM:618493
54681	P4HTM	HP:0005280	Depressed nasal bridge	-	OMIM:618493
54681	P4HTM	HP:0000483	Astigmatism	2/6	OMIM:618493
54681	P4HTM	HP:0000486	Strabismus	HP:0040280	ORPHA:436141
54681	P4HTM	HP:0000486	Strabismus	-	OMIM:618493
54681	P4HTM	HP:0012471	Thick vermilion border	-	OMIM:618493
54681	P4HTM	HP:0000496	Abnormality of eye movement	-	OMIM:618493
54681	P4HTM	HP:0000577	Exotropia	5/6	OMIM:618493
54681	P4HTM	HP:0011220	Prominent forehead	-	OMIM:618493
54681	P4HTM	HP:0011203	EEG with abnormally slow frequencies	1/6	OMIM:618493
54681	P4HTM	HP:0000540	Hypermetropia	1/6	OMIM:618493
54681	P4HTM	HP:0000545	Myopia	-	OMIM:618493
54704	PDP1	HP:0001290	Generalized hypotonia	-	OMIM:608782
54704	PDP1	HP:0001250	Seizure	-	OMIM:608782
54704	PDP1	HP:0001252	Hypotonia	2/2	OMIM:608782
54704	PDP1	HP:0001249	Intellectual disability	-	OMIM:608782
54704	PDP1	HP:0001263	Global developmental delay	2/2	OMIM:608782
54704	PDP1	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:79246
54704	PDP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608782
54704	PDP1	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:79246
54704	PDP1	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:79246
54704	PDP1	HP:0003348	Hyperalaninemia	HP:0040282	ORPHA:79246
54704	PDP1	HP:0002015	Dysphagia	-	OMIM:608782
54704	PDP1	HP:0040328	Focal hyperintensity of cerebral white matter on MRI	HP:0040282	ORPHA:79246
54704	PDP1	HP:0002066	Gait ataxia	-	OMIM:608782
54704	PDP1	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:79246
54704	PDP1	HP:0008358	Hyperprolinemia	HP:0040282	ORPHA:79246
54704	PDP1	HP:0011968	Feeding difficulties	2/2	OMIM:608782
54704	PDP1	HP:0003648	Lacticaciduria	HP:0040282	ORPHA:79246
54704	PDP1	HP:0003623	Neonatal onset	2/2	OMIM:608782
54704	PDP1	HP:0000639	Nystagmus	-	OMIM:608782
54704	PDP1	HP:0011342	Mild global developmental delay	HP:0040282	ORPHA:79246
54704	PDP1	HP:0003128	Lactic acidosis	2/2	OMIM:608782
54704	PDP1	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:79246
54704	PDP1	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2/2	OMIM:608782
54704	PDP1	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	HP:0040281	ORPHA:79246
54714	CNGB3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
54714	CNGB3	HP:0001141	Severely reduced visual acuity	-	OMIM:262300
54714	CNGB3	HP:0001103	Abnormal macular morphology	HP:0040283	ORPHA:49382
54714	CNGB3	HP:0012043	Pendular nystagmus	HP:0040281	ORPHA:49382
54714	CNGB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:262300
54714	CNGB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
54714	CNGB3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
54714	CNGB3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
54714	CNGB3	HP:0007663	Reduced visual acuity	HP:0040280	ORPHA:827
54714	CNGB3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
54714	CNGB3	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:49382
54714	CNGB3	HP:0007641	Dyschromatopsia	1/3	OMIM:262300
54714	CNGB3	HP:0003621	Juvenile onset	8/19	OMIM:180100
54714	CNGB3	HP:0030500	Yellow/white lesions of the macula	HP:0040282	ORPHA:827
54714	CNGB3	HP:0030515	Moderately reduced visual acuity	3/3	OMIM:262300
54714	CNGB3	HP:0000639	Nystagmus	3/3	OMIM:262300
54714	CNGB3	HP:0000649	Abnormality of visual evoked potentials	HP:0040281	ORPHA:827
54714	CNGB3	HP:0000613	Photophobia	3/3	OMIM:262300
54714	CNGB3	HP:0000613	Photophobia	HP:0040281	ORPHA:1871
54714	CNGB3	HP:0000613	Photophobia	HP:0040281	ORPHA:49382
54714	CNGB3	HP:0000610	Abnormal choroid morphology	HP:0040281	ORPHA:827
54714	CNGB3	HP:0000608	Macular degeneration	HP:0040281	ORPHA:827
54714	CNGB3	HP:0000603	Central scotoma	HP:0040281	ORPHA:827
54714	CNGB3	HP:0000603	Central scotoma	HP:0040282	ORPHA:49382
54714	CNGB3	HP:0030465	Undetectable light-adapted electroretinogram	HP:0040281	ORPHA:49382
54714	CNGB3	HP:0000662	Nyctalopia	HP:0040281	ORPHA:827
54714	CNGB3	HP:0000662	Nyctalopia	26/28	OMIM:180100
54714	CNGB3	HP:0030620	Inner retinal layer loss on macular OCT	HP:0040281	ORPHA:49382
54714	CNGB3	HP:0030584	Color vision test abnormality	HP:0040281	ORPHA:49382
54714	CNGB3	HP:0011463	Childhood onset	3/19	OMIM:180100
54714	CNGB3	HP:0011462	Young adult onset	8/19	OMIM:180100
54714	CNGB3	HP:0030786	Photopsia	HP:0040282	ORPHA:827
54714	CNGB3	HP:0011516	Achromatopsia	2/3	OMIM:262300
54714	CNGB3	HP:0030825	Absent foveal reflex	HP:0040282	ORPHA:49382
54714	CNGB3	HP:0008002	Abnormality of macular pigmentation	HP:0040281	ORPHA:827
54714	CNGB3	HP:0008059	Aplasia/Hypoplasia of the macula	HP:0040282	ORPHA:827
54714	CNGB3	HP:0007722	Retinal pigment epithelial atrophy	HP:0040284	ORPHA:49382
54714	CNGB3	HP:0007722	Retinal pigment epithelial atrophy	HP:0040281	ORPHA:827
54714	CNGB3	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1871
54714	CNGB3	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:827
54714	CNGB3	HP:0025549	Eccentric visual fixation	HP:0040283	ORPHA:49382
54714	CNGB3	HP:0007750	Hypoplasia of the fovea	HP:0040282	ORPHA:49382
54714	CNGB3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
54714	CNGB3	HP:0007695	Abnormal pupillary light reflex	HP:0040283	ORPHA:49382
54714	CNGB3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
54714	CNGB3	HP:0007843	Attenuation of retinal blood vessels	HP:0040283	ORPHA:49382
54714	CNGB3	HP:0007814	Retinal pigment epithelial mottling	HP:0040283	ORPHA:49382
54714	CNGB3	HP:0007814	Retinal pigment epithelial mottling	HP:0040281	ORPHA:827
54714	CNGB3	HP:0007803	Monochromacy	HP:0040281	ORPHA:49382
54714	CNGB3	HP:0007803	Monochromacy	-	OMIM:262300
54714	CNGB3	HP:0007811	Horizontal pendular nystagmus	-	OMIM:262300
54714	CNGB3	HP:0011003	High myopia	-	OMIM:262300
54714	CNGB3	HP:0030329	Retinal thinning	HP:0040281	ORPHA:827
54714	CNGB3	HP:0000493	Abnormal foveal morphology	HP:0040281	ORPHA:827
54714	CNGB3	HP:0000518	Cataract	-	OMIM:262300
54714	CNGB3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
54714	CNGB3	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:1871
54714	CNGB3	HP:0000505	Visual impairment	HP:0040281	ORPHA:1871
54714	CNGB3	HP:0000575	Scotoma	5/18	OMIM:180100
54714	CNGB3	HP:0000540	Hypermetropia	HP:0040282	ORPHA:49382
54714	CNGB3	HP:0000539	Abnormality of refraction	HP:0040281	ORPHA:49382
54714	CNGB3	HP:0000551	Color vision defect	HP:0040281	ORPHA:827
54714	CNGB3	HP:0000551	Color vision defect	HP:0040281	ORPHA:1871
54714	CNGB3	HP:0000551	Color vision defect	HP:0040281	ORPHA:49382
54714	CNGB3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
54714	CNGB3	HP:0000545	Myopia	-	OMIM:180100
54714	CNGB3	HP:0000545	Myopia	HP:0040282	ORPHA:49382
54716	SLC6A20	HP:0002154	Hyperglycinemia	-	ORPHA:42062
54716	SLC6A20	HP:0008358	Hyperprolinemia	-	ORPHA:42062
54716	SLC6A20	HP:0003080	Hydroxyprolinuria	HP:0040280	ORPHA:42062
54716	SLC6A20	HP:0003108	Hyperglycinuria	HP:0040280	ORPHA:42062
54716	SLC6A20	HP:0003137	Prolinuria	HP:0040280	ORPHA:42062
54716	SLC6A20	HP:0003260	Hydroxyprolinemia	-	ORPHA:42062
54756	IL17RD	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
54756	IL17RD	HP:0001250	Seizure	HP:0040283	ORPHA:478
54756	IL17RD	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
54756	IL17RD	HP:0001251	Ataxia	HP:0040283	ORPHA:478
54756	IL17RD	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
54756	IL17RD	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
54756	IL17RD	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
54756	IL17RD	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
54756	IL17RD	HP:0000054	Micropenis	HP:0040281	ORPHA:478
54756	IL17RD	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
54756	IL17RD	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
54756	IL17RD	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
54756	IL17RD	HP:0000007	Autosomal recessive inheritance	-	OMIM:615267
54756	IL17RD	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
54756	IL17RD	HP:0001337	Tremor	HP:0040283	ORPHA:478
54756	IL17RD	HP:0000006	Autosomal dominant inheritance	-	OMIM:615267
54756	IL17RD	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
54756	IL17RD	HP:0000164	Abnormality of the dentition	2/8	OMIM:615267
54756	IL17RD	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
54756	IL17RD	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
54756	IL17RD	HP:0000135	Hypogonadism	-	OMIM:615267
54756	IL17RD	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
54756	IL17RD	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
54756	IL17RD	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
54756	IL17RD	HP:0008197	Absence of pubertal development	7/8	OMIM:615267
54756	IL17RD	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
54756	IL17RD	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
54756	IL17RD	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
54756	IL17RD	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
54756	IL17RD	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
54756	IL17RD	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
54756	IL17RD	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
54756	IL17RD	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
54756	IL17RD	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
54756	IL17RD	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
54756	IL17RD	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
54756	IL17RD	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
54756	IL17RD	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
54756	IL17RD	HP:0000939	Osteoporosis	HP:0040283	OMIM:615267
54756	IL17RD	HP:0000938	Osteopenia	HP:0040283	OMIM:615267
54756	IL17RD	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
54756	IL17RD	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
54756	IL17RD	HP:0001513	Obesity	HP:0040283	ORPHA:478
54756	IL17RD	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
54756	IL17RD	HP:0000365	Hearing impairment	6/8	OMIM:615267
54756	IL17RD	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
54756	IL17RD	HP:0000458	Anosmia	8/8	OMIM:615267
54756	IL17RD	HP:0000458	Anosmia	HP:0040281	ORPHA:478
54756	IL17RD	HP:0001763	Pes planus	HP:0040283	ORPHA:478
54756	IL17RD	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
54756	IL17RD	HP:0000508	Ptosis	HP:0040283	ORPHA:478
54756	IL17RD	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
54756	IL17RD	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
54757	FAM20A	HP:0000083	Renal insufficiency	-	OMIM:204690
54757	FAM20A	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:1031
54757	FAM20A	HP:0000007	Autosomal recessive inheritance	-	OMIM:204690
54757	FAM20A	HP:0000169	Gingival fibromatosis	4/4	OMIM:204690
54757	FAM20A	HP:0006302	Dagger-shaped pulp calcifications	-	OMIM:204690
54757	FAM20A	HP:0006286	Yellow-brown discoloration of the teeth	HP:0040281	ORPHA:1031
54757	FAM20A	HP:0000121	Nephrocalcinosis	-	OMIM:204690
54757	FAM20A	HP:0000121	Nephrocalcinosis	HP:0040281	ORPHA:1031
54757	FAM20A	HP:0000112	Nephropathy	HP:0040281	ORPHA:1031
54757	FAM20A	HP:0000103	Polyuria	-	OMIM:204690
54757	FAM20A	HP:0100530	Abnormal circulating calcium-phosphate regulating hormone concentration	HP:0040281	ORPHA:1031
54757	FAM20A	HP:0004727	Impaired renal concentrating ability	HP:0040282	ORPHA:1031
54757	FAM20A	HP:0004727	Impaired renal concentrating ability	-	OMIM:204690
54757	FAM20A	HP:0000696	Delayed eruption of permanent teeth	4/4	OMIM:204690
54757	FAM20A	HP:0000682	Abnormal dental enamel morphology	HP:0040281	ORPHA:1031
54757	FAM20A	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:1031
54757	FAM20A	HP:0000805	Enuresis	-	OMIM:204690
54757	FAM20A	HP:0000805	Enuresis	HP:0040282	ORPHA:1031
54757	FAM20A	HP:0000705	Amelogenesis imperfecta	4/4	OMIM:204690
54757	FAM20A	HP:0000705	Amelogenesis imperfecta	HP:0040281	ORPHA:1031
54757	FAM20A	HP:0003127	Hypocalciuria	HP:0040282	ORPHA:1031
54757	FAM20A	HP:0001548	Overgrowth	-	OMIM:204690
54757	FAM20A	HP:0000212	Gingival overgrowth	-	OMIM:204690
54757	FAM20A	HP:0000212	Gingival overgrowth	HP:0040281	ORPHA:1031
54757	FAM20A	HP:0011073	Abnormality of dental color	HP:0040281	ORPHA:1031
54757	FAM20A	HP:0012365	Hypophosphaturia	HP:0040282	ORPHA:1031
54757	FAM20A	HP:0031428	Increased circulating osteocalcin level	HP:0040281	ORPHA:1031
54765	TRIM44	HP:0000006	Autosomal dominant inheritance	-	OMIM:617142
54765	TRIM44	HP:0007676	Hypoplasia of the iris	HP:0040281	ORPHA:250923
54765	TRIM44	HP:0007663	Reduced visual acuity	8/8	OMIM:617142
54765	TRIM44	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:250923
54765	TRIM44	HP:0030961	Microspherophakia	HP:0040284	ORPHA:250923
54765	TRIM44	HP:0003577	Congenital onset	8/8	OMIM:617142
54765	TRIM44	HP:0100719	Lens coloboma	HP:0040284	ORPHA:250923
54765	TRIM44	HP:0001097	Keratoconjunctivitis sicca	HP:0040282	ORPHA:250923
54765	TRIM44	HP:0001083	Ectopia lentis	HP:0040282	ORPHA:250923
54765	TRIM44	HP:0032107	Limbal stem cell deficiency	HP:0040282	ORPHA:250923
54765	TRIM44	HP:0000639	Nystagmus	0/8	OMIM:617142
54765	TRIM44	HP:0000639	Nystagmus	HP:0040281	ORPHA:250923
54765	TRIM44	HP:0000642	Red-green dyschromatopsia	HP:0040282	ORPHA:250923
54765	TRIM44	HP:0000613	Photophobia	HP:0040283	ORPHA:250923
54765	TRIM44	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:250923
54765	TRIM44	HP:0030468	Abnormal multifocal electroretinogram	HP:0040282	ORPHA:250923
54765	TRIM44	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:250923
54765	TRIM44	HP:0000659	Peters anomaly	HP:0040282	ORPHA:250923
54765	TRIM44	HP:0030622	Abnormal foveal pit on macular OCT	HP:0040282	ORPHA:250923
54765	TRIM44	HP:0011496	Corneal neovascularization	HP:0040282	ORPHA:250923
54765	TRIM44	HP:0008059	Aplasia/Hypoplasia of the macula	HP:0040281	ORPHA:250923
54765	TRIM44	HP:0007750	Hypoplasia of the fovea	HP:0040281	ORPHA:250923
54765	TRIM44	HP:0007894	Hypopigmentation of the fundus	HP:0040282	ORPHA:250923
54765	TRIM44	HP:0007957	Corneal opacity	HP:0040282	ORPHA:250923
54765	TRIM44	HP:0000486	Strabismus	HP:0040282	ORPHA:250923
54765	TRIM44	HP:0000518	Cataract	6/8	OMIM:617142
54765	TRIM44	HP:0000518	Cataract	HP:0040282	ORPHA:250923
54765	TRIM44	HP:0000526	Aniridia	HP:0040281	ORPHA:250923
54765	TRIM44	HP:0000526	Aniridia	8/8	OMIM:617142
54765	TRIM44	HP:0000508	Ptosis	HP:0040283	ORPHA:250923
54765	TRIM44	HP:0000501	Glaucoma	2/8	OMIM:617142
54765	TRIM44	HP:0000501	Glaucoma	HP:0040282	ORPHA:250923
54765	TRIM44	HP:0000572	Visual loss	HP:0040281	ORPHA:250923
54765	TRIM44	HP:0000568	Microphthalmia	HP:0040283	ORPHA:250923
54766	BTG4	HP:0025132	Abnormal circulating estrogen level	0/4	OMIM:619009
54766	BTG4	HP:0000007	Autosomal recessive inheritance	-	OMIM:619009
54766	BTG4	HP:0000140	Abnormality of the menstrual cycle	0/4	OMIM:619009
54766	BTG4	HP:0008222	Female infertility	4/4	OMIM:619009
54766	BTG4	HP:0033336	Zygotic cleavage failure	4/4	OMIM:619009
54768	HYDIN	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
54768	HYDIN	HP:0033542	Bronchial wall thickening	1/1	OMIM:608647
54768	HYDIN	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
54768	HYDIN	HP:0001217	Clubbing	HP:0040283	ORPHA:244
54768	HYDIN	HP:0000007	Autosomal recessive inheritance	-	OMIM:608647
54768	HYDIN	HP:0002643	Neonatal respiratory distress	8/9	OMIM:608647
54768	HYDIN	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
54768	HYDIN	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
54768	HYDIN	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
54768	HYDIN	HP:0031245	Productive cough	HP:0040282	ORPHA:244
54768	HYDIN	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
54768	HYDIN	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
54768	HYDIN	HP:0100582	Nasal polyposis	-	OMIM:608647
54768	HYDIN	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
54768	HYDIN	HP:0002110	Bronchiectasis	9/9	OMIM:608647
54768	HYDIN	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
54768	HYDIN	HP:0008222	Female infertility	HP:0040283	ORPHA:244
54768	HYDIN	HP:0003593	Infantile onset	2/9	OMIM:608647
54768	HYDIN	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
54768	HYDIN	HP:0002257	Chronic rhinitis	9/9	OMIM:608647
54768	HYDIN	HP:0002205	Recurrent respiratory infections	-	OMIM:608647
54768	HYDIN	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
54768	HYDIN	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
54768	HYDIN	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
54768	HYDIN	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	-	OMIM:608647
54768	HYDIN	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
54768	HYDIN	HP:0003623	Neonatal onset	3/9	OMIM:608647
54768	HYDIN	HP:0003621	Juvenile onset	2/9	OMIM:608647
54768	HYDIN	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
54768	HYDIN	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
54768	HYDIN	HP:0011463	Childhood onset	2/9	OMIM:608647
54768	HYDIN	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
54768	HYDIN	HP:0004469	Chronic bronchitis	9/9	OMIM:608647
54768	HYDIN	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
54768	HYDIN	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
54768	HYDIN	HP:0030828	Wheezing	HP:0040283	ORPHA:244
54768	HYDIN	HP:0003251	Male infertility	HP:0040282	ORPHA:244
54768	HYDIN	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
54768	HYDIN	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
54768	HYDIN	HP:0012265	Ciliary dyskinesia	12/12	OMIM:608647
54768	HYDIN	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
54768	HYDIN	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
54768	HYDIN	HP:0012207	Reduced sperm motility	1/1	OMIM:608647
54768	HYDIN	HP:0002878	Respiratory failure	1/1	OMIM:608647
54768	HYDIN	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
54768	HYDIN	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
54768	HYDIN	HP:0006532	Recurrent pneumonia	-	OMIM:608647
54768	HYDIN	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
54768	HYDIN	HP:0001696	Situs inversus totalis	0/10	OMIM:608647
54768	HYDIN	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
54768	HYDIN	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
54768	HYDIN	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
54768	HYDIN	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
54768	HYDIN	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
54768	HYDIN	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
54768	HYDIN	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
54768	HYDIN	HP:0000403	Recurrent otitis media	11/11	OMIM:608647
54768	HYDIN	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
54768	HYDIN	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
54768	HYDIN	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
54768	HYDIN	HP:0011108	Recurrent sinusitis	9/9	OMIM:608647
54768	HYDIN	HP:0001746	Asplenia	HP:0040284	ORPHA:244
54768	HYDIN	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
54768	HYDIN	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
54768	HYDIN	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
54768	HYDIN	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
54768	HYDIN	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
54790	TET2	HP:0025142	Constitutional symptom	HP:0040282	ORPHA:98850
54790	TET2	HP:0025142	Constitutional symptom	HP:0040282	ORPHA:824
54790	TET2	HP:0002488	Acute leukemia	HP:0040283	ORPHA:3318
54790	TET2	HP:0001279	Syncope	HP:0040283	ORPHA:98849
54790	TET2	HP:0001231	Abnormal fingernail morphology	HP:0040283	ORPHA:75564
54790	TET2	HP:0100845	Anaphylactic shock	HP:0040282	ORPHA:98850
54790	TET2	HP:0031035	Chronic infection	HP:0040283	ORPHA:75564
54790	TET2	HP:0010972	Anemia of inadequate production	HP:0040281	ORPHA:98826
54790	TET2	HP:0010972	Anemia of inadequate production	HP:0040281	ORPHA:75564
54790	TET2	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:98849
54790	TET2	HP:0031020	Bone marrow hypercellularity	HP:0040283	ORPHA:824
54790	TET2	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:98849
54790	TET2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619126
54790	TET2	HP:0002665	Lymphoma	HP:0040283	ORPHA:98849
54790	TET2	HP:0002665	Lymphoma	3/3	OMIM:619126
54790	TET2	HP:0002653	Bone pain	HP:0040282	ORPHA:98850
54790	TET2	HP:0002653	Bone pain	HP:0040283	ORPHA:98849
54790	TET2	HP:0002615	Hypotension	HP:0040282	ORPHA:98850
54790	TET2	HP:0002615	Hypotension	HP:0040283	ORPHA:98849
54790	TET2	HP:0012150	Single lineage myelodysplasia	HP:0040282	ORPHA:98826
54790	TET2	HP:0012136	Dysplastic granulopoesis	HP:0040283	ORPHA:75564
54790	TET2	HP:0012137	Abnormal number of granulocyte precursors	HP:0040283	ORPHA:75564
54790	TET2	HP:0012138	Granulocytic hyperplasia	HP:0040283	ORPHA:98849
54790	TET2	HP:0012143	Abnormal megakaryocyte morphology	HP:0040282	ORPHA:824
54790	TET2	HP:0012143	Abnormal megakaryocyte morphology	HP:0040283	ORPHA:75564
54790	TET2	HP:0012132	Erythroid hyperplasia	HP:0040282	ORPHA:75564
54790	TET2	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:98826
54790	TET2	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040284	ORPHA:824
54790	TET2	HP:0002797	Osteolysis	HP:0040283	ORPHA:98850
54790	TET2	HP:0031284	Flushing	HP:0040282	ORPHA:98850
54790	TET2	HP:0031284	Flushing	HP:0040283	ORPHA:98849
54790	TET2	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:98850
54790	TET2	HP:0001442	Typified by somatic mosaicism	-	OMIM:614286
54790	TET2	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:98850
54790	TET2	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:824
54790	TET2	HP:0001433	Hepatosplenomegaly	3/3	OMIM:619126
54790	TET2	HP:0001410	Decreased liver function	HP:0040283	ORPHA:98850
54790	TET2	HP:0001409	Portal hypertension	HP:0040283	ORPHA:98850
54790	TET2	HP:0001409	Portal hypertension	HP:0040283	ORPHA:824
54790	TET2	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:98850
54790	TET2	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:98849
54790	TET2	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:824
54790	TET2	HP:0002716	Lymphadenopathy	3/3	OMIM:619126
54790	TET2	HP:0002729	Follicular hyperplasia	-	OMIM:619126
54790	TET2	HP:0002024	Malabsorption	HP:0040282	ORPHA:98850
54790	TET2	HP:0002018	Nausea	HP:0040283	ORPHA:98849
54790	TET2	HP:0002027	Abdominal pain	HP:0040282	ORPHA:98850
54790	TET2	HP:0002027	Abdominal pain	HP:0040283	ORPHA:98849
54790	TET2	HP:0003326	Myalgia	HP:0040283	ORPHA:98849
54790	TET2	HP:0002014	Diarrhea	HP:0040282	ORPHA:98850
54790	TET2	HP:0002014	Diarrhea	HP:0040283	ORPHA:98849
54790	TET2	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:98849
54790	TET2	HP:0002094	Dyspnea	HP:0040283	ORPHA:98826
54790	TET2	HP:0002076	Migraine	HP:0040282	ORPHA:3318
54790	TET2	HP:0002039	Anorexia	HP:0040282	ORPHA:98850
54790	TET2	HP:0002039	Anorexia	HP:0040283	ORPHA:824
54790	TET2	HP:0003388	Easy fatigability	HP:0040283	ORPHA:824
54790	TET2	HP:0100576	Amaurosis fugax	HP:0040281	ORPHA:3318
54790	TET2	HP:0002110	Bronchiectasis	3/3	OMIM:619126
54790	TET2	HP:0100494	Abnormal mast cell morphology	HP:0040281	ORPHA:98850
54790	TET2	HP:0100494	Abnormal mast cell morphology	HP:0040281	ORPHA:98849
54790	TET2	HP:0011897	Increased total neutrophil count	HP:0040283	ORPHA:98849
54790	TET2	HP:0011875	Abnormal platelet morphology	HP:0040281	ORPHA:3318
54790	TET2	HP:0003401	Paresthesia	HP:0040281	ORPHA:3318
54790	TET2	HP:0003593	Infantile onset	3/3	OMIM:619126
54790	TET2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:75564
54790	TET2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:98849
54790	TET2	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:824
54790	TET2	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:98850
54790	TET2	HP:0002205	Recurrent respiratory infections	3/3	OMIM:619126
54790	TET2	HP:0200143	Megaloblastic erythroid hyperplasia	HP:0040282	ORPHA:75564
54790	TET2	HP:0100785	Insomnia	HP:0040282	ORPHA:3318
54790	TET2	HP:0100749	Chest pain	HP:0040281	ORPHA:3318
54790	TET2	HP:0011974	Myelofibrosis	HP:0040283	ORPHA:3318
54790	TET2	HP:0020072	Persistent EBV viremia	1/3	OMIM:619126
54790	TET2	HP:0004828	Refractory anemia with ringed sideroblasts	HP:0040281	ORPHA:75564
54790	TET2	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:98849
54790	TET2	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:75564
54790	TET2	HP:0001028	Hemangioma	HP:0040284	ORPHA:824
54790	TET2	HP:0001025	Urticaria	HP:0040283	ORPHA:98850
54790	TET2	HP:0001025	Urticaria	HP:0040283	ORPHA:98849
54790	TET2	HP:0002321	Vertigo	HP:0040282	ORPHA:3318
54790	TET2	HP:0002315	Headache	HP:0040282	ORPHA:98849
54790	TET2	HP:0002315	Headache	HP:0040282	ORPHA:3318
54790	TET2	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:3318
54790	TET2	HP:0100659	Abnormal cerebral vascular morphology	HP:0040281	ORPHA:3318
54790	TET2	HP:0032147	Erythromelalgia	HP:0040283	ORPHA:3318
54790	TET2	HP:0032155	Abdominal cramps	HP:0040282	ORPHA:98850
54790	TET2	HP:0004936	Venous thrombosis	HP:0040283	ORPHA:824
54790	TET2	HP:0004936	Venous thrombosis	HP:0040281	ORPHA:3318
54790	TET2	HP:0005528	Bone marrow hypocellularity	HP:0040284	ORPHA:75564
54790	TET2	HP:0005528	Bone marrow hypocellularity	HP:0040283	ORPHA:98826
54790	TET2	HP:0005513	Increased megakaryocyte count	HP:0040281	ORPHA:3318
54790	TET2	HP:0005513	Increased megakaryocyte count	HP:0040284	ORPHA:75564
54790	TET2	HP:0031807	Increased total basophil count	HP:0040283	ORPHA:98849
54790	TET2	HP:0005550	Chronic lymphatic leukemia	HP:0040284	ORPHA:98849
54790	TET2	HP:0005547	Myeloproliferative disorder	HP:0040282	ORPHA:98849
54790	TET2	HP:0005561	Abnormal bone marrow cell morphology	HP:0040281	ORPHA:824
54790	TET2	HP:0005561	Abnormal bone marrow cell morphology	HP:0040281	ORPHA:3318
54790	TET2	HP:4000057	Decreased FasL-mediated apoptosis	2/3	OMIM:619126
54790	TET2	HP:0001971	Hypersplenism	HP:0040283	ORPHA:98850
54790	TET2	HP:0001977	Abnormal thrombosis	HP:0040283	ORPHA:824
54790	TET2	HP:0001978	Extramedullary hematopoiesis	HP:0040283	ORPHA:824
54790	TET2	HP:0001972	Macrocytic anemia	HP:0040282	ORPHA:98826
54790	TET2	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:98850
54790	TET2	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:98849
54790	TET2	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:824
54790	TET2	HP:0001974	Increased total leukocyte count	HP:0040284	ORPHA:75564
54790	TET2	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:3318
54790	TET2	HP:0001945	Fever	HP:0040282	ORPHA:98849
54790	TET2	HP:0001945	Fever	HP:0040283	ORPHA:824
54790	TET2	HP:0001931	Hypochromic anemia	HP:0040283	ORPHA:75564
54790	TET2	HP:0001909	Leukemia	HP:0040283	ORPHA:98850
54790	TET2	HP:0001903	Anemia	HP:0040283	ORPHA:98850
54790	TET2	HP:0001903	Anemia	HP:0040282	ORPHA:824
54790	TET2	HP:0001913	Decreased total granulocyte count	HP:0040284	ORPHA:75564
54790	TET2	HP:0011343	Moderate global developmental delay	3/3	OMIM:619126
54790	TET2	HP:0004326	Cachexia	HP:0040284	ORPHA:824
54790	TET2	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:98849
54790	TET2	HP:0031901	Elevated total serum tryptase	HP:0040282	ORPHA:98850
54790	TET2	HP:0031901	Elevated total serum tryptase	HP:0040281	ORPHA:98849
54790	TET2	HP:0004377	Hematological neoplasm	HP:0040283	ORPHA:98850
54790	TET2	HP:0004377	Hematological neoplasm	HP:0040281	ORPHA:98849
54790	TET2	HP:0004377	Hematological neoplasm	HP:0040284	ORPHA:824
54790	TET2	HP:0003010	Prolonged bleeding time	HP:0040281	ORPHA:3318
54790	TET2	HP:0011447	Hyposegmentation of neutrophil nuclei	HP:0040283	ORPHA:75564
54790	TET2	HP:0004447	Poikilocytosis	HP:0040283	ORPHA:824
54790	TET2	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:824
54790	TET2	HP:0004420	Arterial thrombosis	HP:0040281	ORPHA:3318
54790	TET2	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:98850
54790	TET2	HP:0030872	Abnormal cardiac ventricular function	HP:0040283	ORPHA:98826
54790	TET2	HP:0000980	Pallor	HP:0040282	ORPHA:98849
54790	TET2	HP:0000980	Pallor	HP:0040282	ORPHA:824
54790	TET2	HP:0000980	Pallor	HP:0040282	ORPHA:75564
54790	TET2	HP:0000979	Purpura	HP:0040283	ORPHA:824
54790	TET2	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:3318
54790	TET2	HP:0000989	Pruritus	HP:0040282	ORPHA:98850
54790	TET2	HP:0000989	Pruritus	HP:0040282	ORPHA:98849
54790	TET2	HP:0000967	Petechiae	HP:0040283	ORPHA:824
54790	TET2	HP:0000939	Osteoporosis	HP:0040282	ORPHA:98850
54790	TET2	HP:0000939	Osteoporosis	HP:0040283	ORPHA:98849
54790	TET2	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:98850
54790	TET2	HP:0040186	Maculopapular exanthema	HP:0040283	ORPHA:98850
54790	TET2	HP:0031408	Increased proportion of CD25+ mast cells	HP:0040282	ORPHA:98850
54790	TET2	HP:0030057	Autoimmune antibody positivity	-	ORPHA:824
54790	TET2	HP:0031388	Megakaryocyte nucleus hyperlobulation	HP:0040281	ORPHA:3318
54790	TET2	HP:0002829	Arthralgia	HP:0040282	ORPHA:98850
54790	TET2	HP:0002829	Arthralgia	HP:0040283	ORPHA:98849
54790	TET2	HP:0001541	Ascites	HP:0040283	ORPHA:98850
54790	TET2	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:98849
54790	TET2	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:75564
54790	TET2	HP:0002863	Myelodysplasia	-	OMIM:614286
54790	TET2	HP:0002863	Myelodysplasia	HP:0040281	ORPHA:98826
54790	TET2	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:3318
54790	TET2	HP:0031364	Ecchymosis	HP:0040283	ORPHA:824
54790	TET2	HP:0012378	Fatigue	HP:0040282	ORPHA:98850
54790	TET2	HP:0012378	Fatigue	HP:0040282	ORPHA:98849
54790	TET2	HP:0012378	Fatigue	HP:0040282	ORPHA:824
54790	TET2	HP:0012378	Fatigue	HP:0040282	ORPHA:98826
54790	TET2	HP:0012378	Fatigue	HP:0040281	ORPHA:3318
54790	TET2	HP:0011034	Amyloidosis	HP:0040284	ORPHA:98849
54790	TET2	HP:0012324	Myeloid leukemia	HP:0040281	ORPHA:98849
54790	TET2	HP:0012325	Chronic myelomonocytic leukemia	HP:0040283	ORPHA:98849
54790	TET2	HP:0001649	Tachycardia	HP:0040283	ORPHA:98849
54790	TET2	HP:0001658	Myocardial infarction	HP:0040281	ORPHA:3318
54790	TET2	HP:0030157	Flank pain	HP:0040283	ORPHA:824
54790	TET2	HP:0001635	Congestive heart failure	HP:0040284	ORPHA:75564
54790	TET2	HP:0011134	Low-grade fever	HP:0040283	ORPHA:824
54790	TET2	HP:0011121	Abnormal skin morphology	HP:0040283	ORPHA:98850
54790	TET2	HP:0030243	Hepatic vein thrombosis	HP:0040283	ORPHA:3318
54790	TET2	HP:0001744	Splenomegaly	HP:0040283	ORPHA:75564
54790	TET2	HP:0001744	Splenomegaly	HP:0040283	ORPHA:98849
54790	TET2	HP:0001744	Splenomegaly	HP:0040282	ORPHA:824
54790	TET2	HP:0001744	Splenomegaly	HP:0040282	ORPHA:3318
54790	TET2	HP:0006775	Multiple myeloma	HP:0040284	ORPHA:98849
54790	TET2	HP:0001824	Weight loss	HP:0040282	ORPHA:98850
54790	TET2	HP:0001824	Weight loss	HP:0040282	ORPHA:98849
54790	TET2	HP:0000505	Visual impairment	HP:0040283	ORPHA:3318
54790	TET2	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:824
54790	TET2	HP:0001892	Abnormal bleeding	HP:0040284	ORPHA:75564
54790	TET2	HP:0001892	Abnormal bleeding	HP:0040284	ORPHA:98826
54790	TET2	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:3318
54790	TET2	HP:0001894	Thrombocytosis	HP:0040283	ORPHA:824
54790	TET2	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:75564
54790	TET2	HP:0001894	Thrombocytosis	HP:0040281	ORPHA:3318
54790	TET2	HP:0030388	Decreased class-switched memory B cell proportion	3/3	OMIM:619126
54790	TET2	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:98826
54790	TET2	HP:0001895	Normochromic anemia	HP:0040282	ORPHA:98849
54790	TET2	HP:0001895	Normochromic anemia	HP:0040282	ORPHA:75564
54790	TET2	HP:0001897	Normocytic anemia	HP:0040283	ORPHA:98826
54790	TET2	HP:0001897	Normocytic anemia	HP:0040282	ORPHA:98849
54790	TET2	HP:0001897	Normocytic anemia	HP:0040282	ORPHA:75564
54790	TET2	HP:0001872	Abnormality of thrombocytes	HP:0040281	ORPHA:3318
54790	TET2	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040282	ORPHA:824
54790	TET2	HP:0001880	Increased total eosinophil count	HP:0040282	ORPHA:98849
54790	TET2	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:75564
54790	TET2	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:98850
54790	TET2	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:98849
54790	TET2	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:824
54790	TET2	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:98826
54790	TET2	HP:0001876	Pancytopenia	HP:0040283	ORPHA:98850
54790	TET2	HP:0001876	Pancytopenia	HP:0040283	ORPHA:824
54790	TET2	HP:0001876	Pancytopenia	HP:0040284	ORPHA:75564
54790	TET2	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:98850
54790	TET2	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:98826
54790	TET2	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:75564
54795	TRPM4	HP:0001279	Syncope	-	OMIM:604559
54795	TRPM4	HP:0001279	Syncope	HP:0040282	ORPHA:871
54795	TRPM4	HP:0001279	Syncope	HP:0040282	ORPHA:130
54795	TRPM4	HP:0031190	Superficial dermal perivascular inflammatory infiltrate	-	OMIM:618531
54795	TRPM4	HP:0000006	Autosomal dominant inheritance	-	OMIM:604559
54795	TRPM4	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
54795	TRPM4	HP:0000006	Autosomal dominant inheritance	-	OMIM:618531
54795	TRPM4	HP:0025474	Erythematous plaque	18/18	OMIM:618531
54795	TRPM4	HP:0002027	Abdominal pain	HP:0040282	ORPHA:871
54795	TRPM4	HP:0002094	Dyspnea	HP:0040282	ORPHA:871
54795	TRPM4	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
54795	TRPM4	HP:0011711	Left anterior fascicular block	-	OMIM:604559
54795	TRPM4	HP:0011712	Complete right bundle branch block	19/71	OMIM:604559
54795	TRPM4	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
54795	TRPM4	HP:0011710	Bundle branch block	HP:0040282	ORPHA:871
54795	TRPM4	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
54795	TRPM4	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
54795	TRPM4	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
54795	TRPM4	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
54795	TRPM4	HP:0003593	Infantile onset	18/18	OMIM:618531
54795	TRPM4	HP:0001036	Parakeratosis	-	OMIM:618531
54795	TRPM4	HP:0002321	Vertigo	HP:0040282	ORPHA:871
54795	TRPM4	HP:0200035	Skin plaque	HP:0040281	ORPHA:316
54795	TRPM4	HP:0010783	Erythema	HP:0040281	ORPHA:316
54795	TRPM4	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
54795	TRPM4	HP:0012722	Heart block	HP:0040282	ORPHA:871
54795	TRPM4	HP:0000989	Pruritus	-	OMIM:618531
54795	TRPM4	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:316
54795	TRPM4	HP:0011675	Arrhythmia	-	OMIM:604559
54795	TRPM4	HP:0011675	Arrhythmia	0/18	OMIM:618531
54795	TRPM4	HP:0011675	Arrhythmia	HP:0040282	ORPHA:871
54795	TRPM4	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
54795	TRPM4	HP:0001595	Abnormal hair morphology	0/18	OMIM:618531
54795	TRPM4	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
54795	TRPM4	HP:0005165	Shortened PR interval	-	OMIM:604559
54795	TRPM4	HP:0006482	Abnormal dental morphology	0/18	OMIM:618531
54795	TRPM4	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
54795	TRPM4	HP:0001664	Torsade de pointes	1/46	OMIM:115000
54795	TRPM4	HP:0001678	Atrioventricular block	-	OMIM:604559
54795	TRPM4	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
54795	TRPM4	HP:0001645	Sudden cardiac death	-	OMIM:115000
54795	TRPM4	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
54795	TRPM4	HP:0001663	Ventricular fibrillation	-	OMIM:115000
54795	TRPM4	HP:0001662	Bradycardia	-	OMIM:604559
54795	TRPM4	HP:0001657	Prolonged QT interval	6/71	OMIM:604559
54795	TRPM4	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:871
54795	TRPM4	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
54795	TRPM4	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
54796	BNC2	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:93110
54796	BNC2	HP:0010957	Congenital posterior urethral valve	3/10	OMIM:618612
54796	BNC2	HP:0010957	Congenital posterior urethral valve	HP:0040281	ORPHA:93110
54796	BNC2	HP:0010945	Fetal pyelectasis	HP:0040283	ORPHA:93110
54796	BNC2	HP:0001254	Lethargy	HP:0040284	ORPHA:93110
54796	BNC2	HP:0008718	Unilateral renal dysplasia	HP:0040283	ORPHA:93110
54796	BNC2	HP:0008661	Urethral stenosis	4/10	OMIM:618612
54796	BNC2	HP:0008661	Urethral stenosis	HP:0040284	ORPHA:93110
54796	BNC2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:93110
54796	BNC2	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:93110
54796	BNC2	HP:0000076	Vesicoureteral reflux	5/10	OMIM:618612
54796	BNC2	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:93110
54796	BNC2	HP:0000020	Urinary incontinence	2/10	OMIM:618612
54796	BNC2	HP:0000016	Urinary retention	HP:0040284	ORPHA:93110
54796	BNC2	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:93110
54796	BNC2	HP:0000010	Recurrent urinary tract infections	HP:0040281	ORPHA:93110
54796	BNC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618612
54796	BNC2	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:93110
54796	BNC2	HP:0100515	Pollakisuria	2/10	OMIM:618612
54796	BNC2	HP:0100518	Dysuria	HP:0040284	ORPHA:93110
54796	BNC2	HP:0010677	Enuresis nocturna	HP:0040283	ORPHA:93110
54796	BNC2	HP:0012622	Chronic kidney disease	HP:0040281	ORPHA:93110
54796	BNC2	HP:0000822	Hypertension	HP:0040283	ORPHA:93110
54796	BNC2	HP:0000278	Retrognathia	HP:0040284	ORPHA:93110
54796	BNC2	HP:0005105	Abnormal nasal morphology	HP:0040284	ORPHA:93110
54796	BNC2	HP:0001562	Oligohydramnios	HP:0040284	ORPHA:93110
54796	BNC2	HP:0012330	Pyelonephritis	HP:0040283	ORPHA:93110
54796	BNC2	HP:0000316	Hypertelorism	HP:0040284	ORPHA:93110
54800	KLHL24	HP:0007447	Diffuse palmoplantar hyperkeratosis	15/15	OMIM:617294
54800	KLHL24	HP:0001324	Muscle weakness	0/8	OMIM:620236
54800	KLHL24	HP:0000007	Autosomal recessive inheritance	-	OMIM:620236
54800	KLHL24	HP:0000006	Autosomal dominant inheritance	-	OMIM:617294
54800	KLHL24	HP:0002094	Dyspnea	5/7	OMIM:620236
54800	KLHL24	HP:0034532	Increased myocardial glycogen content	2/2	OMIM:620236
54800	KLHL24	HP:0003577	Congenital onset	-	OMIM:617294
54800	KLHL24	HP:0002231	Sparse body hair	-	OMIM:617294
54800	KLHL24	HP:0008401	Onychogryphosis of toenails	8/14	OMIM:617294
54800	KLHL24	HP:0032092	Left ventricular outflow tract obstruction	3/8	OMIM:620236
54800	KLHL24	HP:0002293	Alopecia of scalp	1/5	OMIM:617294
54800	KLHL24	HP:0001010	Hypopigmentation of the skin	14/14	OMIM:617294
54800	KLHL24	HP:0001962	Palpitations	5/7	OMIM:620236
54800	KLHL24	HP:0004334	Dermal atrophy	14/14	OMIM:617294
54800	KLHL24	HP:0011462	Young adult onset	5/5	OMIM:620236
54800	KLHL24	HP:0034386	Reduced left ventricular endsystolic diameter	5/7	OMIM:620236
54800	KLHL24	HP:0008066	Abnormal blistering of the skin	14/14	OMIM:617294
54800	KLHL24	HP:0001596	Alopecia	7/14	OMIM:617294
54800	KLHL24	HP:0031319	Cardiomyocyte hypertrophy	2/2	OMIM:620236
54800	KLHL24	HP:0001670	Asymmetric septal hypertrophy	3/8	OMIM:620236
54800	KLHL24	HP:0001645	Sudden cardiac death	3/11	OMIM:620236
54800	KLHL24	HP:0001653	Mitral regurgitation	3/8	OMIM:620236
54800	KLHL24	HP:0031656	Systolic anterior motion of the mitral valve	4/8	OMIM:620236
54800	KLHL24	HP:0001810	Dystrophic toenail	-	OMIM:617294
54802	TRIT1	HP:0001290	Generalized hypotonia	-	OMIM:617873
54802	TRIT1	HP:0001249	Intellectual disability	-	OMIM:617873
54802	TRIT1	HP:0001263	Global developmental delay	1/1	OMIM:617873
54802	TRIT1	HP:0001257	Spasticity	1/1	OMIM:617873
54802	TRIT1	HP:0001332	Dystonia	-	OMIM:617873
54802	TRIT1	HP:0001344	Absent speech	-	OMIM:617873
54802	TRIT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617873
54802	TRIT1	HP:0002059	Cerebral atrophy	-	OMIM:617873
54802	TRIT1	HP:0002123	Generalized myoclonic seizure	1/1	OMIM:617873
54802	TRIT1	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:617873
54802	TRIT1	HP:0003593	Infantile onset	1/1	OMIM:617873
54802	TRIT1	HP:0200134	Epileptic encephalopathy	1/1	OMIM:617873
54802	TRIT1	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:617873
54802	TRIT1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/1	OMIM:617873
54802	TRIT1	HP:0002353	EEG abnormality	1/1	OMIM:617873
54802	TRIT1	HP:0031936	Delayed ability to walk	1/1	OMIM:617873
54802	TRIT1	HP:0000750	Delayed speech and language development	1/1	OMIM:617873
54802	TRIT1	HP:0007766	Optic disc hypoplasia	HP:0040284	OMIM:617873
54802	TRIT1	HP:0000252	Microcephaly	1/1	OMIM:617873
54802	TRIT1	HP:0001508	Failure to thrive	-	OMIM:617873
54802	TRIT1	HP:0000565	Esotropia	-	OMIM:617873
54802	TRIT1	HP:0000545	Myopia	-	OMIM:617873
54805	CNNM2	HP:0100954	Open operculum	1/6	OMIM:616418
54805	CNNM2	HP:0001250	Seizure	5/6	OMIM:616418
54805	CNNM2	HP:0001249	Intellectual disability	6/6	OMIM:616418
54805	CNNM2	HP:0001263	Global developmental delay	6/6	OMIM:616418
54805	CNNM2	HP:0001324	Muscle weakness	1/4	OMIM:613882
54805	CNNM2	HP:0001344	Absent speech	2/6	OMIM:616418
54805	CNNM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616418
54805	CNNM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616418
54805	CNNM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613882
54805	CNNM2	HP:0033759	Impaired renal tubular reabsorption of magnesium	2/2	OMIM:613882
54805	CNNM2	HP:0003593	Infantile onset	2/6	OMIM:616418
54805	CNNM2	HP:0002321	Vertigo	1/4	OMIM:613882
54805	CNNM2	HP:0002315	Headache	1/4	OMIM:613882
54805	CNNM2	HP:0003621	Juvenile onset	2/3	OMIM:613882
54805	CNNM2	HP:0000750	Delayed speech and language development	6/6	OMIM:616418
54805	CNNM2	HP:0011463	Childhood onset	1/3	OMIM:613882
54805	CNNM2	HP:0011463	Childhood onset	1/6	OMIM:616418
54805	CNNM2	HP:0000252	Microcephaly	2/6	OMIM:616418
54805	CNNM2	HP:0025501	Class III obesity	2/5	OMIM:616418
54805	CNNM2	HP:0002917	Hypomagnesemia	4/4	OMIM:613882
54805	CNNM2	HP:0002917	Hypomagnesemia	6/6	OMIM:616418
54805	CNNM2	HP:0025708	Early young adult onset	1/6	OMIM:616418
54806	AHI1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
54806	AHI1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:220493
54806	AHI1	HP:0100951	Enlarged fossa interpeduncularis	-	OMIM:608629
54806	AHI1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
54806	AHI1	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:608629
54806	AHI1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
54806	AHI1	HP:0002419	Molar tooth sign on MRI	HP:0040281	ORPHA:220493
54806	AHI1	HP:0002419	Molar tooth sign on MRI	-	OMIM:608629
54806	AHI1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220493
54806	AHI1	HP:0001270	Motor delay	-	OMIM:608629
54806	AHI1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:220493
54806	AHI1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
54806	AHI1	HP:0001250	Seizure	HP:0040283	ORPHA:220493
54806	AHI1	HP:0001250	Seizure	HP:0040283	ORPHA:475
54806	AHI1	HP:0001252	Hypotonia	HP:0040281	ORPHA:220493
54806	AHI1	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
54806	AHI1	HP:0001252	Hypotonia	4/4	OMIM:608629
54806	AHI1	HP:0001251	Ataxia	HP:0040281	ORPHA:220493
54806	AHI1	HP:0001251	Ataxia	HP:0040281	ORPHA:475
54806	AHI1	HP:0001251	Ataxia	4/4	OMIM:608629
54806	AHI1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:220493
54806	AHI1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
54806	AHI1	HP:0001249	Intellectual disability	4/4	OMIM:608629
54806	AHI1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:220493
54806	AHI1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
54806	AHI1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
54806	AHI1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:220493
54806	AHI1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
54806	AHI1	HP:0002553	Highly arched eyebrow	-	OMIM:608629
54806	AHI1	HP:0000090	Nephronophthisis	-	OMIM:608629
54806	AHI1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
54806	AHI1	HP:0033725	Thin corpus callosum	3/4	OMIM:608629
54806	AHI1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
54806	AHI1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608629
54806	AHI1	HP:0001337	Tremor	HP:0040283	ORPHA:220493
54806	AHI1	HP:0001337	Tremor	HP:0040283	ORPHA:475
54806	AHI1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
54806	AHI1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:220493
54806	AHI1	HP:0001320	Cerebellar vermis hypoplasia	4/4	OMIM:608629
54806	AHI1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
54806	AHI1	HP:0002650	Scoliosis	HP:0040283	ORPHA:220493
54806	AHI1	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
54806	AHI1	HP:0000194	Open mouth	-	OMIM:608629
54806	AHI1	HP:0000175	Cleft palate	HP:0040283	ORPHA:220493
54806	AHI1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
54806	AHI1	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
54806	AHI1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
54806	AHI1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
54806	AHI1	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
54806	AHI1	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:220493
54806	AHI1	HP:0002790	Neonatal breathing dysregulation	-	OMIM:608629
54806	AHI1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
54806	AHI1	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
54806	AHI1	HP:0002084	Encephalocele	HP:0040283	ORPHA:220493
54806	AHI1	HP:0003468	Abnormal vertebral morphology	HP:0040283	ORPHA:220493
54806	AHI1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:220493
54806	AHI1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
54806	AHI1	HP:0002104	Apnea	HP:0040281	ORPHA:220493
54806	AHI1	HP:0002104	Apnea	HP:0040281	ORPHA:475
54806	AHI1	HP:0011933	Elongated superior cerebellar peduncle	-	OMIM:608629
54806	AHI1	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
54806	AHI1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:220493
54806	AHI1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
54806	AHI1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:220493
54806	AHI1	HP:0003621	Juvenile onset	8/19	OMIM:180100
54806	AHI1	HP:0006821	Frontal polymicrogyria	3/4	OMIM:608629
54806	AHI1	HP:0000639	Nystagmus	HP:0040282	ORPHA:220493
54806	AHI1	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
54806	AHI1	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
54806	AHI1	HP:0000639	Nystagmus	-	OMIM:608629
54806	AHI1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
54806	AHI1	HP:0000618	Blindness	HP:0040281	ORPHA:791
54806	AHI1	HP:0000613	Photophobia	HP:0040281	ORPHA:791
54806	AHI1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:220493
54806	AHI1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
54806	AHI1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
54806	AHI1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
54806	AHI1	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
54806	AHI1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
54806	AHI1	HP:0000662	Nyctalopia	26/28	OMIM:180100
54806	AHI1	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:220493
54806	AHI1	HP:0000657	Oculomotor apraxia	4/4	OMIM:608629
54806	AHI1	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
54806	AHI1	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
54806	AHI1	HP:0006956	Lateral ventricle dilatation	1/4	OMIM:608629
54806	AHI1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:220493
54806	AHI1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
54806	AHI1	HP:0031936	Delayed ability to walk	-	OMIM:608629
54806	AHI1	HP:0011463	Childhood onset	3/19	OMIM:180100
54806	AHI1	HP:0011462	Young adult onset	8/19	OMIM:180100
54806	AHI1	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
54806	AHI1	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:220493
54806	AHI1	HP:0030786	Photopsia	HP:0040283	ORPHA:791
54806	AHI1	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
54806	AHI1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
54806	AHI1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:220493
54806	AHI1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
54806	AHI1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
54806	AHI1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
54806	AHI1	HP:0000286	Epicanthus	-	OMIM:608629
54806	AHI1	HP:0000276	Long face	HP:0040282	ORPHA:220493
54806	AHI1	HP:0000276	Long face	HP:0040282	ORPHA:475
54806	AHI1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
54806	AHI1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
54806	AHI1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
54806	AHI1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220493
54806	AHI1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
54806	AHI1	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
54806	AHI1	HP:0002876	Episodic tachypnea	-	OMIM:608629
54806	AHI1	HP:0002871	Central apnea	-	OMIM:608629
54806	AHI1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
54806	AHI1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:220493
54806	AHI1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
54806	AHI1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
54806	AHI1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
54806	AHI1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:220493
54806	AHI1	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
54806	AHI1	HP:0000369	Low-set ears	-	OMIM:608629
54806	AHI1	HP:0001651	Dextrocardia	HP:0040283	ORPHA:220493
54806	AHI1	HP:0001631	Atrial septal defect	1/4	OMIM:608629
54806	AHI1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
54806	AHI1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
54806	AHI1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
54806	AHI1	HP:0000486	Strabismus	HP:0040283	ORPHA:220493
54806	AHI1	HP:0000486	Strabismus	HP:0040283	ORPHA:475
54806	AHI1	HP:0000480	Retinal coloboma	HP:0040283	ORPHA:220493
54806	AHI1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:220493
54806	AHI1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
54806	AHI1	HP:0000463	Anteverted nares	-	OMIM:608629
54806	AHI1	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
54806	AHI1	HP:0000431	Wide nasal bridge	-	OMIM:608629
54806	AHI1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:220493
54806	AHI1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
54806	AHI1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
54806	AHI1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
54806	AHI1	HP:0000512	Abnormal electroretinogram	-	OMIM:608629
54806	AHI1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
54806	AHI1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:220493
54806	AHI1	HP:0000508	Ptosis	HP:0040283	ORPHA:220493
54806	AHI1	HP:0000508	Ptosis	HP:0040283	ORPHA:475
54806	AHI1	HP:0000508	Ptosis	-	OMIM:608629
54806	AHI1	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
54806	AHI1	HP:0000505	Visual impairment	-	OMIM:608629
54806	AHI1	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
54806	AHI1	HP:0000580	Pigmentary retinopathy	-	OMIM:608629
54806	AHI1	HP:0000575	Scotoma	5/18	OMIM:180100
54806	AHI1	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
54806	AHI1	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:220493
54806	AHI1	HP:0000556	Retinal dystrophy	-	OMIM:608629
54806	AHI1	HP:0000572	Visual loss	HP:0040283	ORPHA:220493
54806	AHI1	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
54806	AHI1	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
54806	AHI1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
54806	AHI1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
54806	AHI1	HP:0000545	Myopia	-	OMIM:180100
54808	DYM	HP:0001169	Broad palm	-	OMIM:223800
54808	DYM	HP:0001156	Brachydactyly	15/15	OMIM:223800
54808	DYM	HP:0002465	Poor speech	HP:0040283	ORPHA:239
54808	DYM	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:239
54808	DYM	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
54808	DYM	HP:0001293	Cranial nerve compression	-	OMIM:131300
54808	DYM	HP:0001270	Motor delay	HP:0040282	ORPHA:239
54808	DYM	HP:0001288	Gait disturbance	HP:0040282	ORPHA:239
54808	DYM	HP:0001285	Spastic tetraparesis	HP:0040283	ORPHA:239
54808	DYM	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:239
54808	DYM	HP:0001252	Hypotonia	2/7	OMIM:615777
54808	DYM	HP:0001249	Intellectual disability	HP:0040281	ORPHA:239
54808	DYM	HP:0001249	Intellectual disability	2/2	OMIM:223800
54808	DYM	HP:0001249	Intellectual disability	0/1	OMIM:607326
54808	DYM	HP:0001249	Intellectual disability	5/7	OMIM:615777
54808	DYM	HP:0001263	Global developmental delay	-	OMIM:615777
54808	DYM	HP:0002540	Inability to walk	HP:0040283	ORPHA:239
54808	DYM	HP:0002515	Waddling gait	1/1	OMIM:607326
54808	DYM	HP:0002515	Waddling gait	1/2	OMIM:223800
54808	DYM	HP:0002515	Waddling gait	54/102	OMIM:131300
54808	DYM	HP:0001377	Limited elbow extension	HP:0040283	ORPHA:239
54808	DYM	HP:0001376	Limitation of joint mobility	1/1	OMIM:607326
54808	DYM	HP:0001376	Limitation of joint mobility	7/15	OMIM:223800
54808	DYM	HP:0001382	Joint hypermobility	-	OMIM:615777
54808	DYM	HP:0002684	Thickened calvaria	-	OMIM:223800
54808	DYM	HP:0002681	Deformed sella turcica	-	OMIM:223800
54808	DYM	HP:0002681	Deformed sella turcica	-	OMIM:607326
54808	DYM	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:239
54808	DYM	HP:0002694	Sclerosis of skull base	-	OMIM:131300
54808	DYM	HP:0002692	Hypoplastic facial bones	-	OMIM:223800
54808	DYM	HP:0002692	Hypoplastic facial bones	-	OMIM:607326
54808	DYM	HP:0008897	Postnatal growth retardation	-	OMIM:223800
54808	DYM	HP:0008897	Postnatal growth retardation	-	OMIM:615777
54808	DYM	HP:0008829	Delayed femoral head ossification	-	OMIM:607326
54808	DYM	HP:0008835	Multicentric femoral head ossification	-	OMIM:607326
54808	DYM	HP:0008786	Iliac crest serration	-	OMIM:223800
54808	DYM	HP:0008786	Iliac crest serration	1/1	OMIM:607326
54808	DYM	HP:0008786	Iliac crest serration	HP:0040282	ORPHA:239
54808	DYM	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
54808	DYM	HP:0002656	Epiphyseal dysplasia	HP:0040282	ORPHA:239
54808	DYM	HP:0001324	Muscle weakness	40/96	OMIM:131300
54808	DYM	HP:0001344	Absent speech	1/2	OMIM:223800
54808	DYM	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
54808	DYM	HP:0000007	Autosomal recessive inheritance	-	OMIM:607326
54808	DYM	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
54808	DYM	HP:0000007	Autosomal recessive inheritance	-	OMIM:223800
54808	DYM	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
54808	DYM	HP:0002652	Skeletal dysplasia	HP:0040282	ORPHA:239
54808	DYM	HP:0002650	Scoliosis	12/14	OMIM:131300
54808	DYM	HP:0002650	Scoliosis	-	OMIM:607326
54808	DYM	HP:0002650	Scoliosis	13/17	OMIM:223800
54808	DYM	HP:0002651	Spondyloepimetaphyseal dysplasia	HP:0040281	ORPHA:239
54808	DYM	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
54808	DYM	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
54808	DYM	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
54808	DYM	HP:0008905	Rhizomelia	2/2	OMIM:223800
54808	DYM	HP:0008905	Rhizomelia	HP:0040282	ORPHA:239
54808	DYM	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
54808	DYM	HP:0001498	Carpal bone hypoplasia	2/2	OMIM:223800
54808	DYM	HP:0000175	Cleft palate	2/7	OMIM:615777
54808	DYM	HP:0000154	Wide mouth	1/2	OMIM:223800
54808	DYM	HP:0002788	Recurrent upper respiratory tract infections	HP:0040283	ORPHA:239
54808	DYM	HP:0031233	Horizontal inferior border of scapula	HP:0040282	ORPHA:239
54808	DYM	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:239
54808	DYM	HP:0003368	Abnormal femoral head morphology	HP:0040282	ORPHA:239
54808	DYM	HP:0002035	Rectal prolapse	1/2	OMIM:223800
54808	DYM	HP:0003311	Hypoplasia of the odontoid process	1/2	OMIM:223800
54808	DYM	HP:0003311	Hypoplasia of the odontoid process	-	OMIM:607326
54808	DYM	HP:0003311	Hypoplasia of the odontoid process	HP:0040283	ORPHA:239
54808	DYM	HP:0003375	Narrow greater sciatic notch	-	OMIM:223800
54808	DYM	HP:0003388	Easy fatigability	36/76	OMIM:131300
54808	DYM	HP:0034414	Thick oral frenulum	1/2	OMIM:223800
54808	DYM	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
54808	DYM	HP:0003467	Atlantoaxial instability	1/1	OMIM:607326
54808	DYM	HP:0003467	Atlantoaxial instability	HP:0040283	ORPHA:239
54808	DYM	HP:0010582	Irregular epiphyses	-	OMIM:607326
54808	DYM	HP:0002213	Fine hair	1/2	OMIM:223800
54808	DYM	HP:0003510	Severe short stature	7/7	OMIM:615777
54808	DYM	HP:0003510	Severe short stature	HP:0040282	ORPHA:239
54808	DYM	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:223800
54808	DYM	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:607326
54808	DYM	HP:0003521	Disproportionate short-trunk short stature	HP:0040281	ORPHA:239
54808	DYM	HP:0003698	Difficulty standing	HP:0040283	ORPHA:239
54808	DYM	HP:0003690	Limb muscle weakness	HP:0040282	ORPHA:239
54808	DYM	HP:0002359	Frequent falls	HP:0040283	ORPHA:239
54808	DYM	HP:0004997	Multicentric ossification of proximal humeral epiphyses	-	OMIM:223800
54808	DYM	HP:0002315	Headache	-	OMIM:131300
54808	DYM	HP:0004976	Knee dislocation	6/7	OMIM:615777
54808	DYM	HP:0004991	Rhizomelic arm shortening	14/15	OMIM:223800
54808	DYM	HP:0009803	Short phalanx of finger	-	OMIM:607326
54808	DYM	HP:0009803	Short phalanx of finger	-	OMIM:615777
54808	DYM	HP:0010743	Short metatarsal	2/2	OMIM:223800
54808	DYM	HP:0009763	Limb pain	63/92	OMIM:131300
54808	DYM	HP:0003621	Juvenile onset	-	OMIM:131300
54808	DYM	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
54808	DYM	HP:0004209	Clinodactyly of the 5th finger	5/15	OMIM:223800
54808	DYM	HP:0004242	Broad carpal bones	HP:0040283	ORPHA:239
54808	DYM	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
54808	DYM	HP:6001056	Out-toeing	-	OMIM:131300
54808	DYM	HP:0000651	Diplopia	-	OMIM:131300
54808	DYM	HP:0001956	Truncal obesity	2/7	OMIM:615777
54808	DYM	HP:0001903	Anemia	HP:0040283	OMIM:131300
54808	DYM	HP:0010049	Short metacarpal	-	OMIM:607326
54808	DYM	HP:0010049	Short metacarpal	2/2	OMIM:223800
54808	DYM	HP:0010049	Short metacarpal	-	OMIM:615777
54808	DYM	HP:0011344	Severe global developmental delay	-	OMIM:223800
54808	DYM	HP:0000678	Dental crowding	-	OMIM:615777
54808	DYM	HP:0000670	Carious teeth	-	OMIM:131300
54808	DYM	HP:0011304	Broad thumb	2/7	OMIM:615777
54808	DYM	HP:0000668	Hypodontia	-	OMIM:615777
54808	DYM	HP:0000664	Synophrys	1/2	OMIM:223800
54808	DYM	HP:0000664	Synophrys	-	OMIM:615777
54808	DYM	HP:0004322	Short stature	1/1	OMIM:607326
54808	DYM	HP:0031987	Diminished ability to concentrate	HP:0040283	ORPHA:239
54808	DYM	HP:0003066	Limited knee extension	HP:0040283	ORPHA:239
54808	DYM	HP:0004396	Poor appetite	-	OMIM:131300
54808	DYM	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
54808	DYM	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:239
54808	DYM	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
54808	DYM	HP:0003016	Metaphyseal widening	15/15	OMIM:223800
54808	DYM	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
54808	DYM	HP:0003026	Short long bone	7/7	OMIM:615777
54808	DYM	HP:0003026	Short long bone	HP:0040282	ORPHA:239
54808	DYM	HP:0003025	Metaphyseal irregularity	1/1	OMIM:607326
54808	DYM	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
54808	DYM	HP:0000752	Hyperactivity	HP:0040283	ORPHA:239
54808	DYM	HP:0000767	Pectus excavatum	2/7	OMIM:615777
54808	DYM	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:239
54808	DYM	HP:0000768	Pectus carinatum	13/15	OMIM:223800
54808	DYM	HP:0000768	Pectus carinatum	1/7	OMIM:615777
54808	DYM	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
54808	DYM	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:239
54808	DYM	HP:0000750	Delayed speech and language development	-	OMIM:615777
54808	DYM	HP:0011463	Childhood onset	1/1	OMIM:607326
54808	DYM	HP:0011463	Childhood onset	1/1	OMIM:223800
54808	DYM	HP:0011461	Fetal onset	7/7	OMIM:615777
54808	DYM	HP:0000774	Narrow chest	2/7	OMIM:615777
54808	DYM	HP:0000914	Shield chest	14/15	OMIM:223800
54808	DYM	HP:0000911	Flat glenoid fossa	-	OMIM:223800
54808	DYM	HP:0000925	Abnormality of the vertebral column	HP:0040282	ORPHA:239
54808	DYM	HP:0000926	Platyspondyly	HP:0040282	ORPHA:239
54808	DYM	HP:0000926	Platyspondyly	1/1	OMIM:607326
54808	DYM	HP:0000926	Platyspondyly	12/12	OMIM:223800
54808	DYM	HP:0000926	Platyspondyly	1/7	OMIM:615777
54808	DYM	HP:0000920	Enlargement of the costochondral junction	-	OMIM:223800
54808	DYM	HP:0003183	Wide pubic symphysis	2/2	OMIM:223800
54808	DYM	HP:0003183	Wide pubic symphysis	HP:0040282	ORPHA:239
54808	DYM	HP:0003180	Flat acetabular roof	1/2	OMIM:223800
54808	DYM	HP:0003180	Flat acetabular roof	-	OMIM:615777
54808	DYM	HP:0004482	Relative macrocephaly	-	OMIM:615777
54808	DYM	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
54808	DYM	HP:0000882	Hypoplastic scapulae	-	OMIM:223800
54808	DYM	HP:0000882	Hypoplastic scapulae	-	OMIM:607326
54808	DYM	HP:0000884	Prominent sternum	-	OMIM:223800
54808	DYM	HP:0000884	Prominent sternum	1/1	OMIM:607326
54808	DYM	HP:0000885	Broad ribs	HP:0040282	ORPHA:239
54808	DYM	HP:0003090	Hypoplasia of the capital femoral epiphysis	HP:0040282	ORPHA:239
54808	DYM	HP:0000823	Delayed puberty	-	OMIM:131300
54808	DYM	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	-	OMIM:223800
54808	DYM	HP:0000894	Short clavicles	-	OMIM:615777
54808	DYM	HP:0004568	Beaking of vertebral bodies	2/2	OMIM:223800
54808	DYM	HP:0004568	Beaking of vertebral bodies	1/1	OMIM:607326
54808	DYM	HP:0004568	Beaking of vertebral bodies	HP:0040282	ORPHA:239
54808	DYM	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
54808	DYM	HP:0003274	Hypoplastic acetabulae	-	OMIM:607326
54808	DYM	HP:0003274	Hypoplastic acetabulae	HP:0040282	ORPHA:239
54808	DYM	HP:0003272	Abnormal hip bone morphology	HP:0040282	ORPHA:239
54808	DYM	HP:0003270	Abdominal distention	1/2	OMIM:223800
54808	DYM	HP:0100255	Metaphyseal dysplasia	HP:0040282	ORPHA:239
54808	DYM	HP:0010306	Short thorax	HP:0040282	ORPHA:239
54808	DYM	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
54808	DYM	HP:0000946	Hypoplastic ilia	HP:0040282	ORPHA:239
54808	DYM	HP:0040163	Abnormal pelvis bone morphology	HP:0040282	ORPHA:239
54808	DYM	HP:0000286	Epicanthus	1/7	OMIM:615777
54808	DYM	HP:0000280	Coarse facial features	HP:0040282	ORPHA:239
54808	DYM	HP:0000280	Coarse facial features	2/2	OMIM:223800
54808	DYM	HP:0000280	Coarse facial features	2/7	OMIM:615777
54808	DYM	HP:0000268	Dolichocephaly	-	OMIM:607326
54808	DYM	HP:0006450	Multicentric ossification of proximal femoral epiphyses	-	OMIM:223800
54808	DYM	HP:0006429	Broad femoral neck	HP:0040282	ORPHA:239
54808	DYM	HP:0005106	Abnormality of the vertebral endplates	HP:0040282	ORPHA:239
54808	DYM	HP:0002812	Coxa vara	HP:0040283	ORPHA:239
54808	DYM	HP:0002827	Hip dislocation	3/7	OMIM:615777
54808	DYM	HP:0002808	Kyphosis	1/1	OMIM:607326
54808	DYM	HP:0002808	Kyphosis	8/15	OMIM:223800
54808	DYM	HP:0000252	Microcephaly	HP:0040282	ORPHA:239
54808	DYM	HP:0000252	Microcephaly	1/2	OMIM:223800
54808	DYM	HP:0000252	Microcephaly	0/1	OMIM:607326
54808	DYM	HP:0000252	Microcephaly	-	OMIM:615777
54808	DYM	HP:0001552	Barrel-shaped chest	-	OMIM:223800
54808	DYM	HP:0001552	Barrel-shaped chest	1/1	OMIM:607326
54808	DYM	HP:0002857	Genu valgum	-	OMIM:131300
54808	DYM	HP:0002857	Genu valgum	HP:0040283	ORPHA:239
54808	DYM	HP:0002857	Genu valgum	-	OMIM:607326
54808	DYM	HP:0002857	Genu valgum	16/17	OMIM:223800
54808	DYM	HP:0001538	Protuberant abdomen	HP:0040283	ORPHA:239
54808	DYM	HP:0001533	Slender build	-	OMIM:131300
54808	DYM	HP:0002866	Hypoplastic iliac wing	1/2	OMIM:223800
54808	DYM	HP:0001508	Failure to thrive	HP:0040281	ORPHA:239
54808	DYM	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
54808	DYM	HP:0007807	Optic nerve compression	-	OMIM:131300
54808	DYM	HP:0012379	Abnormal circulating enzyme concentration or activity	-	ORPHA:239
54808	DYM	HP:0012385	Camptodactyly	-	OMIM:223800
54808	DYM	HP:0012368	Flat face	7/7	OMIM:615777
54808	DYM	HP:0006589	Flaring of lower rib cage	15/15	OMIM:223800
54808	DYM	HP:0002938	Lumbar hyperlordosis	16/16	OMIM:223800
54808	DYM	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
54808	DYM	HP:0002942	Thoracic kyphosis	-	OMIM:223800
54808	DYM	HP:0000365	Hearing impairment	-	ORPHA:239
54808	DYM	HP:0000365	Hearing impairment	10/67	OMIM:131300
54808	DYM	HP:0000343	Long philtrum	1/7	OMIM:615777
54808	DYM	HP:0011001	Increased bone mineral density	-	OMIM:131300
54808	DYM	HP:0002982	Tibial bowing	1/15	OMIM:223800
54808	DYM	HP:0002980	Femoral bowing	1/15	OMIM:223800
54808	DYM	HP:0000319	Smooth philtrum	1/2	OMIM:223800
54808	DYM	HP:0000311	Round face	2/7	OMIM:615777
54808	DYM	HP:0002970	Genu varum	1/1	OMIM:607326
54808	DYM	HP:0002970	Genu varum	1/15	OMIM:223800
54808	DYM	HP:0002970	Genu varum	-	OMIM:615777
54808	DYM	HP:0000303	Mandibular prognathia	-	OMIM:131300
54808	DYM	HP:0000303	Mandibular prognathia	-	OMIM:223800
54808	DYM	HP:0007957	Corneal opacity	-	ORPHA:239
54808	DYM	HP:0006633	Glenoid fossa hypoplasia	HP:0040283	ORPHA:239
54808	DYM	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
54808	DYM	HP:0000470	Short neck	HP:0040282	ORPHA:239
54808	DYM	HP:0000470	Short neck	1/1	OMIM:607326
54808	DYM	HP:0000470	Short neck	16/17	OMIM:223800
54808	DYM	HP:0000470	Short neck	1/7	OMIM:615777
54808	DYM	HP:0012428	Prominent calcaneus	3/15	OMIM:223800
54808	DYM	HP:0001769	Broad foot	-	OMIM:223800
54808	DYM	HP:0001769	Broad foot	HP:0040283	OMIM:615777
54808	DYM	HP:0001763	Pes planus	3/15	OMIM:223800
54808	DYM	HP:0001763	Pes planus	1/7	OMIM:615777
54808	DYM	HP:0001762	Talipes equinovarus	1/15	OMIM:223800
54808	DYM	HP:0001840	Metatarsus adductus	-	OMIM:615777
54808	DYM	HP:0000520	Proptosis	2/4	OMIM:131300
54808	DYM	HP:0000520	Proptosis	7/7	OMIM:615777
54808	DYM	HP:0000592	Blue sclerae	2/7	OMIM:615777
54808	DYM	HP:0000574	Thick eyebrow	1/2	OMIM:223800
54808	DYM	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
54808	DYM	HP:0012514	Lower limb pain	4/4	OMIM:131300
54809	SAMD9	HP:0100806	Sepsis	2/11	OMIM:617053
54809	SAMD9	HP:0001270	Motor delay	-	OMIM:617053
54809	SAMD9	HP:0001250	Seizure	1/11	OMIM:617053
54809	SAMD9	HP:0001263	Global developmental delay	9/9	OMIM:617053
54809	SAMD9	HP:0002571	Achalasia	2/11	OMIM:617053
54809	SAMD9	HP:0008734	Decreased testicular size	3/6	OMIM:617053
54809	SAMD9	HP:0000047	Hypospadias	6/6	OMIM:617053
54809	SAMD9	HP:0000049	Shawl scrotum	4/6	OMIM:617053
54809	SAMD9	HP:0000028	Cryptorchidism	2/6	OMIM:617053
54809	SAMD9	HP:0000010	Recurrent urinary tract infections	2/11	OMIM:617053
54809	SAMD9	HP:0000007	Autosomal recessive inheritance	-	OMIM:610455
54809	SAMD9	HP:0000006	Autosomal dominant inheritance	-	OMIM:617053
54809	SAMD9	HP:0000006	Autosomal dominant inheritance	-	OMIM:619041
54809	SAMD9	HP:0002650	Scoliosis	1/11	OMIM:617053
54809	SAMD9	HP:0006270	Hypoplastic spleen	1/11	OMIM:617053
54809	SAMD9	HP:0002718	Recurrent bacterial infections	10/11	OMIM:617053
54809	SAMD9	HP:0002020	Gastroesophageal reflux	1/11	OMIM:617053
54809	SAMD9	HP:0002028	Chronic diarrhea	9/9	OMIM:617053
54809	SAMD9	HP:0100529	Abnormal blood phosphate concentration	0/8	OMIM:610455
54809	SAMD9	HP:0002043	Esophageal stricture	1/11	OMIM:617053
54809	SAMD9	HP:0100511	Abnormality of vitamin D metabolism	0/8	OMIM:610455
54809	SAMD9	HP:0002153	Hyperkalemia	-	OMIM:617053
54809	SAMD9	HP:0002170	Intracranial hemorrhage	1/11	OMIM:617053
54809	SAMD9	HP:0010557	Overlapping fingers	1/11	OMIM:617053
54809	SAMD9	HP:0010550	Paraplegia	2/11	OMIM:617053
54809	SAMD9	HP:0003593	Infantile onset	1/11	OMIM:617053
54809	SAMD9	HP:0003593	Infantile onset	8/8	OMIM:610455
54809	SAMD9	HP:0011951	Aspiration pneumonia	4/11	OMIM:617053
54809	SAMD9	HP:0004808	Acute myeloid leukemia	-	OMIM:619041
54809	SAMD9	HP:0003623	Neonatal onset	10/11	OMIM:617053
54809	SAMD9	HP:0005528	Bone marrow hypocellularity	-	OMIM:619041
54809	SAMD9	HP:0005518	Increased mean corpuscular volume	-	OMIM:619041
54809	SAMD9	HP:0031817	Decreased circulating parathyroid hormone level	0/8	OMIM:610455
54809	SAMD9	HP:0001943	Hypoglycemia	-	OMIM:617053
54809	SAMD9	HP:0001903	Anemia	9/10	OMIM:617053
54809	SAMD9	HP:0001903	Anemia	-	OMIM:619041
54809	SAMD9	HP:0004325	Decreased body weight	-	OMIM:617053
54809	SAMD9	HP:0004322	Short stature	-	OMIM:617053
54809	SAMD9	HP:0004363	Abnormal circulating calcium concentration	0/8	OMIM:610455
54809	SAMD9	HP:0011463	Childhood onset	3/3	OMIM:619041
54809	SAMD9	HP:0000835	Adrenal hypoplasia	7/7	OMIM:617053
54809	SAMD9	HP:0000846	Adrenal insufficiency	11/11	OMIM:617053
54809	SAMD9	HP:0000815	Hypergonadotropic hypogonadism	2/11	OMIM:617053
54809	SAMD9	HP:0000967	Petechiae	1/11	OMIM:617053
54809	SAMD9	HP:0000238	Hydrocephalus	1/11	OMIM:617053
54809	SAMD9	HP:0025520	Calcinosis cutis	8/8	OMIM:610455
54809	SAMD9	HP:0000230	Gingivitis	-	OMIM:610455
54809	SAMD9	HP:0002863	Myelodysplasia	2/11	OMIM:617053
54809	SAMD9	HP:0002863	Myelodysplasia	-	OMIM:619041
54809	SAMD9	HP:0001511	Intrauterine growth retardation	-	OMIM:617053
54809	SAMD9	HP:0002902	Hyponatremia	-	OMIM:617053
54809	SAMD9	HP:0001643	Patent ductus arteriosus	3/11	OMIM:617053
54809	SAMD9	HP:0004059	Radial club hand	1/11	OMIM:617053
54809	SAMD9	HP:0030260	Microphallus	6/6	OMIM:617053
54809	SAMD9	HP:0001762	Talipes equinovarus	2/11	OMIM:617053
54809	SAMD9	HP:0001838	Rocker bottom foot	1/11	OMIM:617053
54809	SAMD9	HP:0000509	Conjunctivitis	-	OMIM:610455
54809	SAMD9	HP:0031689	Megakaryocyte dysplasia	-	OMIM:619041
54809	SAMD9	HP:0001888	Decreased total lymphocyte count	-	OMIM:617053
54809	SAMD9	HP:0001882	Decreased total leukocyte count	1/11	OMIM:617053
54809	SAMD9	HP:0001873	Thrombocytopenia	11/11	OMIM:617053
54809	SAMD9	HP:0001873	Thrombocytopenia	-	OMIM:619041
54809	SAMD9	HP:0001876	Pancytopenia	-	OMIM:619041
54809	SAMD9	HP:0001875	Decreased total neutrophil count	-	OMIM:619041
54820	NDE1	HP:0001181	Adducted thumb	HP:0040283	ORPHA:89844
54820	NDE1	HP:0008610	Infantile sensorineural hearing impairment	HP:0040281	ORPHA:2177
54820	NDE1	HP:0010864	Intellectual disability, severe	2/2	OMIM:605013
54820	NDE1	HP:0009879	Simplified gyral pattern	5/6	OMIM:614019
54820	NDE1	HP:0002421	Poor head control	2/2	OMIM:605013
54820	NDE1	HP:0003700	Generalized amyotrophy	2/2	OMIM:605013
54820	NDE1	HP:0025258	Stiff neck	HP:0040282	ORPHA:2177
54820	NDE1	HP:0001276	Hypertonia	2/3	OMIM:614019
54820	NDE1	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:89844
54820	NDE1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:89844
54820	NDE1	HP:0001274	Agenesis of corpus callosum	2/2	OMIM:605013
54820	NDE1	HP:0001274	Agenesis of corpus callosum	4/6	OMIM:614019
54820	NDE1	HP:0001287	Meningitis	HP:0040282	ORPHA:2177
54820	NDE1	HP:0001254	Lethargy	HP:0040282	ORPHA:2177
54820	NDE1	HP:0001250	Seizure	HP:0040282	ORPHA:89844
54820	NDE1	HP:0001250	Seizure	HP:0040282	ORPHA:2177
54820	NDE1	HP:0001250	Seizure	7/9	OMIM:614019
54820	NDE1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:89844
54820	NDE1	HP:0001264	Spastic diplegia	HP:0040282	ORPHA:2177
54820	NDE1	HP:0001263	Global developmental delay	-	OMIM:605013
54820	NDE1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2177
54820	NDE1	HP:0001263	Global developmental delay	9/9	OMIM:614019
54820	NDE1	HP:0410279	Atrophic pituitary gland	HP:0040282	ORPHA:2177
54820	NDE1	HP:0010994	Abnormal corpus striatum morphology	HP:0040281	ORPHA:2177
54820	NDE1	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:89844
54820	NDE1	HP:0002510	Spastic tetraplegia	2/2	OMIM:605013
54820	NDE1	HP:0003808	Abnormal muscle tone	HP:0040282	ORPHA:89844
54820	NDE1	HP:0002683	Abnormal calvaria morphology	HP:0040282	ORPHA:89844
54820	NDE1	HP:0001347	Hyperreflexia	2/2	OMIM:605013
54820	NDE1	HP:0001347	Hyperreflexia	1/3	OMIM:614019
54820	NDE1	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:2177
54820	NDE1	HP:0001339	Lissencephaly	2/4	OMIM:614019
54820	NDE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:605013
54820	NDE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614019
54820	NDE1	HP:0001302	Pachygyria	-	OMIM:605013
54820	NDE1	HP:0001321	Cerebellar hypoplasia	2/2	OMIM:605013
54820	NDE1	HP:0001321	Cerebellar hypoplasia	4/6	OMIM:614019
54820	NDE1	HP:0006270	Hypoplastic spleen	HP:0040283	ORPHA:89844
54820	NDE1	HP:0002015	Dysphagia	HP:0040283	ORPHA:89844
54820	NDE1	HP:0002098	Respiratory distress	HP:0040283	ORPHA:89844
54820	NDE1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:89844
54820	NDE1	HP:0003487	Babinski sign	1/3	OMIM:614019
54820	NDE1	HP:0002123	Generalized myoclonic seizure	-	OMIM:605013
54820	NDE1	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:2177
54820	NDE1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:2177
54820	NDE1	HP:0002119	Ventriculomegaly	2/2	OMIM:605013
54820	NDE1	HP:0002187	Intellectual disability, profound	6/6	OMIM:614019
54820	NDE1	HP:0002179	Opisthotonus	HP:0040282	ORPHA:2177
54820	NDE1	HP:0010541	Cutis gyrata of scalp	2/2	OMIM:605013
54820	NDE1	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:89844
54820	NDE1	HP:0003577	Congenital onset	2/2	OMIM:605013
54820	NDE1	HP:0003577	Congenital onset	10/10	OMIM:614019
54820	NDE1	HP:0007023	Antenatal intracerebral hemorrhage	HP:0040282	ORPHA:2177
54820	NDE1	HP:0010652	Abnormal dura mater morphology	HP:0040282	ORPHA:2177
54820	NDE1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:89844
54820	NDE1	HP:0011968	Feeding difficulties	6/6	OMIM:614019
54820	NDE1	HP:0002365	Hypoplasia of the brainstem	2/2	OMIM:605013
54820	NDE1	HP:0002324	Hydranencephaly	-	OMIM:605013
54820	NDE1	HP:0025099	Dysgenesis of the thalamus	HP:0040282	ORPHA:2177
54820	NDE1	HP:0025040	Thalamic edema	HP:0040282	ORPHA:2177
54820	NDE1	HP:0002305	Athetosis	-	OMIM:605013
54820	NDE1	HP:0006818	4-layered lissencephaly	HP:0040281	ORPHA:89844
54820	NDE1	HP:0006887	Intellectual disability, progressive	-	OMIM:605013
54820	NDE1	HP:0000618	Blindness	HP:0040281	ORPHA:2177
54820	NDE1	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:2177
54820	NDE1	HP:0000601	Hypotelorism	HP:0040282	ORPHA:2177
54820	NDE1	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:89844
54820	NDE1	HP:0011328	Abnormal fontanelle morphology	HP:0040282	ORPHA:2177
54820	NDE1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:89844
54820	NDE1	HP:0004322	Short stature	-	OMIM:605013
54820	NDE1	HP:0004322	Short stature	4/10	OMIM:614019
54820	NDE1	HP:0012736	Profound global developmental delay	HP:0040282	ORPHA:89844
54820	NDE1	HP:0012736	Profound global developmental delay	-	OMIM:605013
54820	NDE1	HP:0000742	Self-mutilation	2/2	OMIM:605013
54820	NDE1	HP:0009145	Abnormal cerebral artery morphology	HP:0040282	ORPHA:2177
54820	NDE1	HP:0011451	Primary microcephaly	HP:0040283	ORPHA:2177
54820	NDE1	HP:0011451	Primary microcephaly	HP:0040281	ORPHA:89844
54820	NDE1	HP:0011451	Primary microcephaly	10/10	OMIM:614019
54820	NDE1	HP:0000817	Reduced eye contact	2/2	OMIM:605013
54820	NDE1	HP:0003202	Skeletal muscle atrophy	-	OMIM:605013
54820	NDE1	HP:0045028	Microlissencephaly	HP:0040281	ORPHA:89844
54820	NDE1	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:89844
54820	NDE1	HP:0000269	Prominent occiput	HP:0040282	ORPHA:89844
54820	NDE1	HP:0002828	Multiple joint contractures	-	OMIM:605013
54820	NDE1	HP:0000252	Microcephaly	2/2	OMIM:605013
54820	NDE1	HP:0025517	Hypoplastic hippocampus	HP:0040282	ORPHA:2177
54820	NDE1	HP:0030048	Colpocephaly	1/3	OMIM:614019
54820	NDE1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:89844
54820	NDE1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2177
54820	NDE1	HP:0001510	Growth delay	2/2	OMIM:605013
54820	NDE1	HP:0001510	Growth delay	1/3	OMIM:614019
54820	NDE1	HP:0000369	Low-set ears	HP:0040282	ORPHA:89844
54820	NDE1	HP:0000341	Narrow forehead	HP:0040282	ORPHA:89844
54820	NDE1	HP:0000340	Sloping forehead	HP:0040282	ORPHA:89844
54820	NDE1	HP:0000340	Sloping forehead	-	OMIM:605013
54820	NDE1	HP:0000350	Small forehead	HP:0040282	ORPHA:89844
54820	NDE1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:89844
54820	NDE1	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:89844
54820	NDE1	HP:0000308	Microretrognathia	HP:0040282	ORPHA:89844
54820	NDE1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:89844
54820	NDE1	HP:0006698	Dilatation of the ventricular cavity	HP:0040282	ORPHA:2177
54820	NDE1	HP:0000400	Macrotia	-	OMIM:605013
54820	NDE1	HP:0000479	Abnormal retinal morphology	HP:0040283	ORPHA:89844
54820	NDE1	HP:0000445	Wide nose	HP:0040282	ORPHA:89844
54820	NDE1	HP:0001762	Talipes equinovarus	-	OMIM:605013
54820	NDE1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:89844
54820	NDE1	HP:0000431	Wide nasal bridge	4/4	OMIM:614019
54820	NDE1	HP:0000426	Prominent nasal bridge	2/2	OMIM:605013
54820	NDE1	HP:3000062	Abnormal internal carotid artery morphology	HP:0040282	ORPHA:2177
54820	NDE1	HP:0000520	Proptosis	-	OMIM:605013
54820	NDE1	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:89844
54820	NDE1	HP:0000533	Chorioretinal atrophy	HP:0040283	ORPHA:2177
54822	TRPM7	HP:0001283	Bulbar palsy	-	OMIM:105500
54822	TRPM7	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:105500
54822	TRPM7	HP:0001324	Muscle weakness	-	OMIM:105500
54822	TRPM7	HP:0000006	Autosomal dominant inheritance	-	OMIM:105500
54822	TRPM7	HP:0001300	Parkinsonism	0/3	OMIM:105500
54822	TRPM7	HP:0003394	Muscle spasm	-	OMIM:105500
54822	TRPM7	HP:0002059	Cerebral atrophy	1/3	OMIM:105500
54822	TRPM7	HP:0003470	Paralysis	-	OMIM:105500
54822	TRPM7	HP:0003596	Middle age onset	1/3	OMIM:105500
54822	TRPM7	HP:0003584	Late onset	2/3	OMIM:105500
54822	TRPM7	HP:0002366	Abnormal lower motor neuron morphology	-	OMIM:105500
54822	TRPM7	HP:0000726	Dementia	1/3	OMIM:105500
54828	BCAS3	HP:0002493	Upper motor neuron dysfunction	15/15	OMIM:619641
54828	BCAS3	HP:0002445	Tetraplegia	1/15	OMIM:619641
54828	BCAS3	HP:0010864	Intellectual disability, severe	14/14	OMIM:619641
54828	BCAS3	HP:0001272	Cerebellar atrophy	7/13	OMIM:619641
54828	BCAS3	HP:0001250	Seizure	7/15	OMIM:619641
54828	BCAS3	HP:0001252	Hypotonia	1/15	OMIM:619641
54828	BCAS3	HP:0001263	Global developmental delay	15/15	OMIM:619641
54828	BCAS3	HP:0001257	Spasticity	13/15	OMIM:619641
54828	BCAS3	HP:0002540	Inability to walk	4/14	OMIM:619641
54828	BCAS3	HP:0001347	Hyperreflexia	15/15	OMIM:619641
54828	BCAS3	HP:0001332	Dystonia	8/30	OMIM:619641
54828	BCAS3	HP:0033725	Thin corpus callosum	13/13	OMIM:619641
54828	BCAS3	HP:0001344	Absent speech	4/14	OMIM:619641
54828	BCAS3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619641
54828	BCAS3	HP:0000194	Open mouth	15/15	OMIM:619641
54828	BCAS3	HP:0002059	Cerebral atrophy	6/13	OMIM:619641
54828	BCAS3	HP:0002141	Gait imbalance	2/15	OMIM:619641
54828	BCAS3	HP:0002194	Delayed gross motor development	15/15	OMIM:619641
54828	BCAS3	HP:0003593	Infantile onset	-	OMIM:619641
54828	BCAS3	HP:0008366	Foot joint contracture	3/15	OMIM:619641
54828	BCAS3	HP:0100660	Dyskinesia	1/15	OMIM:619641
54828	BCAS3	HP:0000639	Nystagmus	3/15	OMIM:619641
54828	BCAS3	HP:0000692	Tooth malposition	5/15	OMIM:619641
54828	BCAS3	HP:0000687	Widely spaced teeth	4/15	OMIM:619641
54828	BCAS3	HP:0000664	Synophrys	10/15	OMIM:619641
54828	BCAS3	HP:0004322	Short stature	11/14	OMIM:619641
54828	BCAS3	HP:0011400	Abnormal CNS myelination	12/13	OMIM:619641
54828	BCAS3	HP:0000286	Epicanthus	1/15	OMIM:619641
54828	BCAS3	HP:0000276	Long face	13/15	OMIM:619641
54828	BCAS3	HP:0000252	Microcephaly	11/13	OMIM:619641
54828	BCAS3	HP:0000232	Everted lower lip vermilion	14/15	OMIM:619641
54828	BCAS3	HP:0001647	Bicuspid aortic valve	2/15	OMIM:619641
54828	BCAS3	HP:0000316	Hypertelorism	2/15	OMIM:619641
54828	BCAS3	HP:0000322	Short philtrum	8/11	OMIM:619641
54828	BCAS3	HP:0000486	Strabismus	10/15	OMIM:619641
54828	BCAS3	HP:0012471	Thick vermilion border	15/15	OMIM:619641
54828	BCAS3	HP:0000431	Wide nasal bridge	3/15	OMIM:619641
54828	BCAS3	HP:0000508	Ptosis	2/15	OMIM:619641
54828	BCAS3	HP:0000574	Thick eyebrow	10/15	OMIM:619641
54829	ASPN	HP:0001387	Joint stiffness	-	OMIM:607850
54829	ASPN	HP:0006233	Osteoarthritis of the distal interphalangeal joint	-	OMIM:607850
54829	ASPN	HP:0006226	Osteoarthritis of the first carpometacarpal joint	-	OMIM:607850
54829	ASPN	HP:0000006	Autosomal dominant inheritance	-	OMIM:607850
54829	ASPN	HP:0002758	Osteoarthritis	-	OMIM:607850
54829	ASPN	HP:0002829	Arthralgia	-	OMIM:607850
54832	VPS13C	HP:0002451	Limb dystonia	2/3	OMIM:616840
54832	VPS13C	HP:0007256	Abnormal pyramidal sign	1/3	OMIM:616840
54832	VPS13C	HP:0025269	Panic attack	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0001268	Mental deterioration	3/3	OMIM:616840
54832	VPS13C	HP:0001289	Confusion	1/3	OMIM:616840
54832	VPS13C	HP:0002578	Gastroparesis	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0001257	Spasticity	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0001257	Spasticity	1/3	OMIM:616840
54832	VPS13C	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	3/3	OMIM:616840
54832	VPS13C	HP:0002529	Neuronal loss in central nervous system	1/1	OMIM:616840
54832	VPS13C	HP:0002527	Falls	2/3	OMIM:616840
54832	VPS13C	HP:0002505	Loss of ambulation	3/3	OMIM:616840
54832	VPS13C	HP:0000020	Urinary incontinence	1/3	OMIM:616840
54832	VPS13C	HP:0001350	Slurred speech	2/2	OMIM:616840
54832	VPS13C	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0001347	Hyperreflexia	1/3	OMIM:616840
54832	VPS13C	HP:0001332	Dystonia	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0000007	Autosomal recessive inheritance	-	OMIM:616840
54832	VPS13C	HP:0001337	Tremor	HP:0040282	ORPHA:2828
54832	VPS13C	HP:0002018	Nausea	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0002019	Constipation	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0040307	Male sexual dysfunction	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0002014	Diarrhea	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0002015	Dysphagia	1/3	OMIM:616840
54832	VPS13C	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0002067	Bradykinesia	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0003394	Muscle spasm	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0002063	Rigidity	3/3	OMIM:616840
54832	VPS13C	HP:0002063	Rigidity	HP:0040281	ORPHA:2828
54832	VPS13C	HP:0002141	Gait imbalance	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0002120	Cerebral cortical atrophy	1/3	OMIM:616840
54832	VPS13C	HP:0002185	Neurofibrillary tangles	1/1	OMIM:616840
54832	VPS13C	HP:0002172	Postural instability	1/3	OMIM:616840
54832	VPS13C	HP:0002172	Postural instability	HP:0040282	ORPHA:2828
54832	VPS13C	HP:0003596	Middle age onset	1/3	OMIM:616840
54832	VPS13C	HP:0100710	Impulsivity	HP:0040284	ORPHA:2828
54832	VPS13C	HP:0100785	Insomnia	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0003676	Progressive	-	OMIM:616840
54832	VPS13C	HP:0002322	Resting tremor	3/3	OMIM:616840
54832	VPS13C	HP:0100660	Dyskinesia	HP:0040282	ORPHA:2828
54832	VPS13C	HP:0002304	Akinesia	3/3	OMIM:616840
54832	VPS13C	HP:0031825	Freezing of gait	2/3	OMIM:616840
54832	VPS13C	HP:0000651	Diplopia	HP:0040284	ORPHA:2828
54832	VPS13C	HP:0004326	Cachexia	1/3	OMIM:616840
54832	VPS13C	HP:0000738	Hallucinations	1/3	OMIM:616840
54832	VPS13C	HP:0000738	Hallucinations	HP:0040282	ORPHA:2828
54832	VPS13C	HP:0000739	Anxiety	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0000736	Short attention span	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0000741	Apathy	1/3	OMIM:616840
54832	VPS13C	HP:0000741	Apathy	HP:0040282	ORPHA:2828
54832	VPS13C	HP:0000716	Depression	HP:0040282	ORPHA:2828
54832	VPS13C	HP:0000716	Depression	1/3	OMIM:616840
54832	VPS13C	HP:0000713	Agitation	HP:0040284	ORPHA:2828
54832	VPS13C	HP:0000727	Frontal lobe dementia	HP:0040284	ORPHA:2828
54832	VPS13C	HP:0000726	Dementia	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0000726	Dementia	3/3	OMIM:616840
54832	VPS13C	HP:0011462	Young adult onset	2/3	OMIM:616840
54832	VPS13C	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0004409	Hyposmia	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0100315	Lewy bodies	1/1	OMIM:616840
54832	VPS13C	HP:0030014	Female sexual dysfunction	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0012332	Abnormal autonomic nervous system physiology	2/3	OMIM:616840
54832	VPS13C	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0012452	Restless legs	HP:0040283	ORPHA:2828
54832	VPS13C	HP:0000551	Color vision defect	HP:0040283	ORPHA:2828
54834	GDAP2	HP:0002497	Spastic ataxia	1/2	OMIM:618369
54834	GDAP2	HP:0001272	Cerebellar atrophy	2/2	OMIM:618369
54834	GDAP2	HP:0001268	Mental deterioration	1/2	OMIM:618369
54834	GDAP2	HP:0001288	Gait disturbance	1/2	OMIM:618369
54834	GDAP2	HP:0001260	Dysarthria	1/2	OMIM:618369
54834	GDAP2	HP:0001257	Spasticity	1/2	OMIM:618369
54834	GDAP2	HP:0007338	Hypermetric saccades	1/2	OMIM:618369
54834	GDAP2	HP:0001348	Brisk reflexes	2/2	OMIM:618369
54834	GDAP2	HP:0001347	Hyperreflexia	2/2	OMIM:618369
54834	GDAP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618369
54834	GDAP2	HP:0002015	Dysphagia	1/2	OMIM:618369
54834	GDAP2	HP:0002066	Gait ataxia	1/2	OMIM:618369
54834	GDAP2	HP:0002141	Gait imbalance	1/2	OMIM:618369
54834	GDAP2	HP:0002120	Cerebral cortical atrophy	1/2	OMIM:618369
54834	GDAP2	HP:0002171	Gliosis	1/1	OMIM:618369
54834	GDAP2	HP:0002359	Frequent falls	1/2	OMIM:618369
54834	GDAP2	HP:0003677	Slowly progressive	-	OMIM:618369
54834	GDAP2	HP:0006895	Lower limb hypertonia	1/2	OMIM:618369
54834	GDAP2	HP:0000640	Gaze-evoked nystagmus	1/2	OMIM:618369
54834	GDAP2	HP:0000741	Apathy	1/2	OMIM:618369
54834	GDAP2	HP:0000716	Depression	1/2	OMIM:618369
54834	GDAP2	HP:0000718	Aggressive behavior	1/2	OMIM:618369
54834	GDAP2	HP:0008003	Jerky ocular pursuit movements	2/2	OMIM:618369
54834	GDAP2	HP:0000473	Torticollis	1/2	OMIM:618369
54834	GDAP2	HP:0025710	Late young adult onset	2/2	OMIM:618369
54840	APTX	HP:0001298	Encephalopathy	-	OMIM:607426
54840	APTX	HP:0001272	Cerebellar atrophy	-	OMIM:208920
54840	APTX	HP:0001272	Cerebellar atrophy	1/1	OMIM:607426
54840	APTX	HP:0001270	Motor delay	-	OMIM:607426
54840	APTX	HP:0001268	Mental deterioration	HP:0040283	OMIM:208920
54840	APTX	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1168
54840	APTX	HP:0001284	Areflexia	12/13	OMIM:208920
54840	APTX	HP:0001250	Seizure	-	OMIM:607426
54840	APTX	HP:0001252	Hypotonia	1/1	OMIM:607426
54840	APTX	HP:0001251	Ataxia	-	OMIM:607426
54840	APTX	HP:0001251	Ataxia	14/14	OMIM:208920
54840	APTX	HP:0001251	Ataxia	HP:0040281	ORPHA:1168
54840	APTX	HP:0001249	Intellectual disability	-	OMIM:607426
54840	APTX	HP:0001265	Hyporeflexia	-	OMIM:208920
54840	APTX	HP:0001260	Dysarthria	-	OMIM:208920
54840	APTX	HP:0001260	Dysarthria	-	OMIM:607426
54840	APTX	HP:0001263	Global developmental delay	1/1	OMIM:607426
54840	APTX	HP:0002572	Episodic vomiting	1/1	OMIM:607426
54840	APTX	HP:0002506	Diffuse cerebral atrophy	1/1	OMIM:607426
54840	APTX	HP:0002505	Loss of ambulation	1/1	OMIM:607426
54840	APTX	HP:0002505	Loss of ambulation	11/14	OMIM:208920
54840	APTX	HP:0000097	Focal segmental glomerulosclerosis	1/1	OMIM:607426
54840	APTX	HP:0000096	Glomerular sclerosis	-	OMIM:607426
54840	APTX	HP:0000093	Proteinuria	1/1	OMIM:607426
54840	APTX	HP:0001399	Hepatic failure	-	OMIM:607426
54840	APTX	HP:0001332	Dystonia	5/14	OMIM:208920
54840	APTX	HP:0001328	Specific learning disability	-	OMIM:607426
54840	APTX	HP:0001324	Muscle weakness	-	OMIM:208920
54840	APTX	HP:0000007	Autosomal recessive inheritance	-	OMIM:607426
54840	APTX	HP:0000007	Autosomal recessive inheritance	-	OMIM:208920
54840	APTX	HP:0001337	Tremor	-	OMIM:208920
54840	APTX	HP:0001337	Tremor	1/1	OMIM:607426
54840	APTX	HP:0001336	Myoclonus	1/1	OMIM:607426
54840	APTX	HP:0002650	Scoliosis	6/12	OMIM:208920
54840	APTX	HP:0000100	Nephrotic syndrome	-	OMIM:607426
54840	APTX	HP:0002015	Dysphagia	1/1	OMIM:607426
54840	APTX	HP:0003323	Progressive muscle weakness	-	OMIM:607426
54840	APTX	HP:0100543	Cognitive impairment	-	OMIM:208920
54840	APTX	HP:0002066	Gait ataxia	-	OMIM:208920
54840	APTX	HP:0002078	Truncal ataxia	-	OMIM:208920
54840	APTX	HP:0002072	Chorea	11/14	OMIM:208920
54840	APTX	HP:0002070	Limb ataxia	-	OMIM:208920
54840	APTX	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	-	OMIM:208920
54840	APTX	HP:0040293	Right hemiplegia	1/1	OMIM:607426
54840	APTX	HP:0002133	Status epilepticus	1/1	OMIM:607426
54840	APTX	HP:0002168	Scanning speech	-	OMIM:607426
54840	APTX	HP:0002172	Postural instability	-	OMIM:607426
54840	APTX	HP:0003593	Infantile onset	1/1	OMIM:607426
54840	APTX	HP:0003581	Adult onset	-	OMIM:208920
54840	APTX	HP:0003693	Distal amyotrophy	14/14	OMIM:208920
54840	APTX	HP:0003652	Recurrent myoglobinuria	-	OMIM:607426
54840	APTX	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:1168
54840	APTX	HP:0010747	Medial flaring of the eyebrow	HP:0040281	ORPHA:1168
54840	APTX	HP:0003621	Juvenile onset	9/13	OMIM:208920
54840	APTX	HP:0006886	Impaired distal vibration sensation	11/11	OMIM:208920
54840	APTX	HP:0000640	Gaze-evoked nystagmus	-	OMIM:208920
54840	APTX	HP:0000639	Nystagmus	-	OMIM:607426
54840	APTX	HP:0001903	Anemia	-	OMIM:607426
54840	APTX	HP:0000657	Oculomotor apraxia	12/14	OMIM:208920
54840	APTX	HP:0003073	Hypoalbuminemia	-	OMIM:208920
54840	APTX	HP:0000764	Peripheral axonal degeneration	-	OMIM:208920
54840	APTX	HP:0000726	Dementia	-	OMIM:208920
54840	APTX	HP:0000707	Abnormality of the nervous system	HP:0040281	ORPHA:1168
54840	APTX	HP:0011463	Childhood onset	6/13	OMIM:208920
54840	APTX	HP:0003124	Hypercholesterolemia	9/12	OMIM:208920
54840	APTX	HP:0003128	Lactic acidosis	-	OMIM:607426
54840	APTX	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:607426
54840	APTX	HP:0040078	Axonal degeneration	-	OMIM:208920
54840	APTX	HP:0003236	Elevated circulating creatine kinase concentration	8/11	OMIM:208920
54840	APTX	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:607426
54840	APTX	HP:0003200	Ragged-red muscle fibers	-	OMIM:607426
54840	APTX	HP:0033051	Impaired executive functioning	8/11	OMIM:208920
54840	APTX	HP:0034369	Decreased level of coenzyme Q10 in skeletal muscle	1/1	OMIM:607426
54840	APTX	HP:0012378	Fatigue	-	OMIM:607426
54840	APTX	HP:0002936	Distal sensory impairment	12/13	OMIM:208920
54840	APTX	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:607426
54840	APTX	HP:0000407	Sensorineural hearing impairment	-	OMIM:607426
54840	APTX	HP:0001761	Pes cavus	6/11	OMIM:208920
54840	APTX	HP:0000510	Rod-cone dystrophy	-	OMIM:607426
54840	APTX	HP:0000590	Progressive external ophthalmoplegia	-	OMIM:208920
54840	APTX	HP:0000572	Visual loss	-	OMIM:607426
54840	APTX	HP:0000571	Hypometric saccades	-	OMIM:208920
54840	APTX	HP:0001876	Pancytopenia	-	OMIM:607426
54845	ESRP1	HP:0008555	Absent vestibular function	0/2	OMIM:618013
54845	ESRP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618013
54845	ESRP1	HP:0008527	Congenital sensorineural hearing impairment	2/2	OMIM:618013
54845	ESRP1	HP:0011380	Abnormal semicircular canal morphology	2/2	OMIM:618013
54848	ARHGEF38	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199306
54848	ARHGEF38	HP:0000175	Cleft palate	HP:0040282	ORPHA:199306
54848	ARHGEF38	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:199306
54848	ARHGEF38	HP:0006292	Abnormality of dental eruption	HP:0040281	ORPHA:199306
54848	ARHGEF38	HP:0002033	Poor suck	HP:0040282	ORPHA:199306
54848	ARHGEF38	HP:0200153	Agenesis of lateral incisor	HP:0040283	ORPHA:199306
54848	ARHGEF38	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:199306
54848	ARHGEF38	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:199306
54848	ARHGEF38	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:199306
54848	ARHGEF38	HP:0004395	Malnutrition	HP:0040283	ORPHA:199306
54848	ARHGEF38	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:199306
54848	ARHGEF38	HP:0100337	Bilateral cleft palate	HP:0040283	ORPHA:199306
54848	ARHGEF38	HP:0100334	Unilateral cleft palate	HP:0040282	ORPHA:199306
54848	ARHGEF38	HP:0010294	Palate fistula	HP:0040283	ORPHA:199306
54848	ARHGEF38	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:199306
54848	ARHGEF38	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:199306
54848	ARHGEF38	HP:0011044	Abnormal number of permanent teeth	HP:0040283	ORPHA:199306
54848	ARHGEF38	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:199306
54848	ARHGEF38	HP:0000327	Hypoplasia of the maxilla	HP:0040284	ORPHA:199306
54848	ARHGEF38	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:199306
54848	ARHGEF38	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:199306
54862	CC2D1A	HP:0010864	Intellectual disability, severe	20/20	OMIM:608443
54862	CC2D1A	HP:0001263	Global developmental delay	10/10	OMIM:608443
54862	CC2D1A	HP:0002546	Incomprehensible speech	1/1	OMIM:608443
54862	CC2D1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:608443
54862	CC2D1A	HP:0000752	Hyperactivity	1/1	OMIM:608443
54862	CC2D1A	HP:0000736	Short attention span	1/1	OMIM:608443
54862	CC2D1A	HP:0000750	Delayed speech and language development	10/10	OMIM:608443
54862	CC2D1A	HP:0011463	Childhood onset	10/10	OMIM:608443
54862	CC2D1A	HP:0000253	Progressive microcephaly	1/10	OMIM:608443
54862	CC2D1A	HP:0000338	Hypomimic face	-	OMIM:608443
54870	QRICH1	HP:0001195	Single umbilical artery	1/2	OMIM:617982
54870	QRICH1	HP:0001270	Motor delay	4/5	OMIM:617982
54870	QRICH1	HP:0001252	Hypotonia	2/5	OMIM:617982
54870	QRICH1	HP:0001249	Intellectual disability	3/3	OMIM:617982
54870	QRICH1	HP:0001265	Hyporeflexia	1/3	OMIM:617982
54870	QRICH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617982
54870	QRICH1	HP:0002650	Scoliosis	2/2	OMIM:617982
54870	QRICH1	HP:0000154	Wide mouth	4/5	OMIM:617982
54870	QRICH1	HP:0002750	Delayed skeletal maturation	1/2	OMIM:617982
54870	QRICH1	HP:0002080	Intention tremor	1/3	OMIM:617982
54870	QRICH1	HP:0008180	Mildly elevated creatine kinase	2/3	OMIM:617982
54870	QRICH1	HP:0003577	Congenital onset	2/2	OMIM:617982
54870	QRICH1	HP:0011968	Feeding difficulties	1/2	OMIM:617982
54870	QRICH1	HP:0002317	Unsteady gait	1/3	OMIM:617982
54870	QRICH1	HP:0004209	Clinodactyly of the 5th finger	2/2	OMIM:617982
54870	QRICH1	HP:0004322	Short stature	1/2	OMIM:617982
54870	QRICH1	HP:0003025	Metaphyseal irregularity	2/2	OMIM:617982
54870	QRICH1	HP:0000750	Delayed speech and language development	5/5	OMIM:617982
54870	QRICH1	HP:0000729	Autistic behavior	1/3	OMIM:617982
54870	QRICH1	HP:0000252	Microcephaly	1/3	OMIM:617982
54870	QRICH1	HP:0000219	Thin upper lip vermilion	4/5	OMIM:617982
54870	QRICH1	HP:0000218	High palate	1/2	OMIM:617982
54870	QRICH1	HP:0000232	Everted lower lip vermilion	1/3	OMIM:617982
54870	QRICH1	HP:0001511	Intrauterine growth retardation	0/3	OMIM:617982
54870	QRICH1	HP:0000378	Cupped ear	1/3	OMIM:617982
54870	QRICH1	HP:0000369	Low-set ears	1/3	OMIM:617982
54870	QRICH1	HP:0001669	Transposition of the great arteries	1/2	OMIM:617982
54870	QRICH1	HP:0000319	Smooth philtrum	1/3	OMIM:617982
54870	QRICH1	HP:0000316	Hypertelorism	1/3	OMIM:617982
54870	QRICH1	HP:0000400	Macrotia	2/2	OMIM:617982
54870	QRICH1	HP:0000455	Broad nasal tip	1/3	OMIM:617982
54870	QRICH1	HP:0000448	Prominent nose	3/3	OMIM:617982
54870	QRICH1	HP:0000445	Wide nose	1/3	OMIM:617982
54870	QRICH1	HP:0000414	Bulbous nose	1/2	OMIM:617982
54870	QRICH1	HP:0000508	Ptosis	1/3	OMIM:617982
54870	QRICH1	HP:0000582	Upslanted palpebral fissure	1/3	OMIM:617982
54872	PIGG	HP:0001177	Preaxial hand polydactyly	HP:0040282	ORPHA:280
54872	PIGG	HP:0001171	Split hand	HP:0040282	ORPHA:280
54872	PIGG	HP:0001187	Hyperextensibility of the finger joints	HP:0040283	ORPHA:488635
54872	PIGG	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:280
54872	PIGG	HP:0007258	Severe demyelination of the white matter	HP:0040283	ORPHA:488635
54872	PIGG	HP:0009890	High anterior hairline	HP:0040281	ORPHA:280
54872	PIGG	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:280
54872	PIGG	HP:0008551	Microtia	HP:0040281	ORPHA:280
54872	PIGG	HP:0001290	Generalized hypotonia	-	OMIM:616917
54872	PIGG	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:488635
54872	PIGG	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280
54872	PIGG	HP:0001250	Seizure	3/5	OMIM:616917
54872	PIGG	HP:0001250	Seizure	HP:0040281	ORPHA:280
54872	PIGG	HP:0001250	Seizure	HP:0040281	ORPHA:488635
54872	PIGG	HP:0001252	Hypotonia	HP:0040281	ORPHA:280
54872	PIGG	HP:0001252	Hypotonia	HP:0040281	ORPHA:488635
54872	PIGG	HP:0001251	Ataxia	2/5	OMIM:616917
54872	PIGG	HP:0001251	Ataxia	HP:0040281	ORPHA:280
54872	PIGG	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:488635
54872	PIGG	HP:0001265	Hyporeflexia	-	OMIM:616917
54872	PIGG	HP:0001263	Global developmental delay	5/5	OMIM:616917
54872	PIGG	HP:0001263	Global developmental delay	HP:0040281	ORPHA:280
54872	PIGG	HP:0007385	Aplasia cutis congenita of scalp	HP:0040282	ORPHA:280
54872	PIGG	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:280
54872	PIGG	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:280
54872	PIGG	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:280
54872	PIGG	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:280
54872	PIGG	HP:0000078	Abnormality of the genital system	HP:0040283	ORPHA:280
54872	PIGG	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:488635
54872	PIGG	HP:0000047	Hypospadias	HP:0040281	ORPHA:280
54872	PIGG	HP:0001362	Calvarial skull defect	HP:0040282	ORPHA:280
54872	PIGG	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:280
54872	PIGG	HP:0008830	Hypoplastic pubic ramus	HP:0040282	ORPHA:280
54872	PIGG	HP:0001344	Absent speech	HP:0040283	ORPHA:488635
54872	PIGG	HP:0001344	Absent speech	1/5	OMIM:616917
54872	PIGG	HP:0000007	Autosomal recessive inheritance	-	OMIM:616917
54872	PIGG	HP:0002650	Scoliosis	HP:0040282	ORPHA:280
54872	PIGG	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:488635
54872	PIGG	HP:0001321	Cerebellar hypoplasia	2/5	OMIM:616917
54872	PIGG	HP:0000159	Abnormal lip morphology	HP:0040281	ORPHA:280
54872	PIGG	HP:0000175	Cleft palate	HP:0040283	ORPHA:280
54872	PIGG	HP:0000153	Abnormality of the mouth	HP:0040281	ORPHA:280
54872	PIGG	HP:0000151	Aplasia of the uterus	HP:0040283	ORPHA:280
54872	PIGG	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:280
54872	PIGG	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:280
54872	PIGG	HP:0002714	Downturned corners of mouth	HP:0040281	ORPHA:280
54872	PIGG	HP:0002720	Decreased circulating IgA concentration	HP:0040282	ORPHA:280
54872	PIGG	HP:0003363	Abdominal situs inversus	HP:0040283	ORPHA:280
54872	PIGG	HP:0002007	Frontal bossing	HP:0040281	ORPHA:280
54872	PIGG	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:280
54872	PIGG	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:488635
54872	PIGG	HP:0002066	Gait ataxia	HP:0040282	ORPHA:488635
54872	PIGG	HP:0003394	Muscle spasm	HP:0040283	ORPHA:488635
54872	PIGG	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:488635
54872	PIGG	HP:0002079	Hypoplasia of the corpus callosum	1/5	OMIM:616917
54872	PIGG	HP:0002059	Cerebral atrophy	2/5	OMIM:616917
54872	PIGG	HP:0010464	Streak ovary	HP:0040283	ORPHA:280
54872	PIGG	HP:0002144	Tethered cord	HP:0040282	ORPHA:280
54872	PIGG	HP:0002141	Gait imbalance	HP:0040282	ORPHA:488635
54872	PIGG	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280
54872	PIGG	HP:0002187	Intellectual disability, profound	5/5	OMIM:616917
54872	PIGG	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:280
54872	PIGG	HP:0010510	Hypermobility of toe joints	HP:0040283	ORPHA:488635
54872	PIGG	HP:0003593	Infantile onset	4/5	OMIM:616917
54872	PIGG	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:280
54872	PIGG	HP:0100790	Hernia	HP:0040283	ORPHA:280
54872	PIGG	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:280
54872	PIGG	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:488635
54872	PIGG	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:280
54872	PIGG	HP:0001028	Hemangioma	HP:0040282	ORPHA:280
54872	PIGG	HP:0002329	Drowsiness	HP:0040283	ORPHA:488635
54872	PIGG	HP:0009778	Short thumb	HP:0040282	ORPHA:280
54872	PIGG	HP:0006829	Severe muscular hypotonia	-	OMIM:616917
54872	PIGG	HP:0000639	Nystagmus	HP:0040283	ORPHA:280
54872	PIGG	HP:0000648	Optic atrophy	HP:0040282	ORPHA:280
54872	PIGG	HP:0000647	Sclerocornea	HP:0040283	ORPHA:280
54872	PIGG	HP:0000612	Iris coloboma	HP:0040282	ORPHA:280
54872	PIGG	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:488635
54872	PIGG	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:280
54872	PIGG	HP:0000679	Taurodontia	HP:0040282	ORPHA:280
54872	PIGG	HP:0000668	Hypodontia	HP:0040281	ORPHA:280
54872	PIGG	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:488635
54872	PIGG	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:280
54872	PIGG	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:488635
54872	PIGG	HP:0100022	Abnormality of movement	HP:0040283	ORPHA:280
54872	PIGG	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:280
54872	PIGG	HP:0000750	Delayed speech and language development	-	OMIM:616917
54872	PIGG	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:488635
54872	PIGG	HP:0000729	Autistic behavior	HP:0040283	ORPHA:488635
54872	PIGG	HP:0011461	Fetal onset	1/5	OMIM:616917
54872	PIGG	HP:0010109	Short hallux	HP:0040282	ORPHA:280
54872	PIGG	HP:0000776	Congenital diaphragmatic hernia	HP:0040282	ORPHA:280
54872	PIGG	HP:0000925	Abnormality of the vertebral column	HP:0040282	ORPHA:280
54872	PIGG	HP:0000902	Rib fusion	HP:0040282	ORPHA:280
54872	PIGG	HP:0003155	Elevated circulating alkaline phosphatase concentration	0/5	OMIM:616917
54872	PIGG	HP:0004467	Preauricular pit	HP:0040282	ORPHA:280
54872	PIGG	HP:0000958	Dry skin	HP:0040282	ORPHA:280
54872	PIGG	HP:0000960	Sacral dimple	HP:0040282	ORPHA:280
54872	PIGG	HP:0000939	Osteoporosis	HP:0040283	ORPHA:280
54872	PIGG	HP:0008081	Pes valgus	HP:0040283	ORPHA:488635
54872	PIGG	HP:0000286	Epicanthus	HP:0040281	ORPHA:280
54872	PIGG	HP:0000288	Abnormality of the philtrum	HP:0040281	ORPHA:280
54872	PIGG	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:280
54872	PIGG	HP:0002808	Kyphosis	HP:0040282	ORPHA:280
54872	PIGG	HP:0000252	Microcephaly	HP:0040281	ORPHA:280
54872	PIGG	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:488635
54872	PIGG	HP:0001558	Decreased fetal movement	HP:0040281	ORPHA:280
54872	PIGG	HP:0000204	Cleft upper lip	HP:0040282	ORPHA:280
54872	PIGG	HP:0001508	Failure to thrive	HP:0040281	ORPHA:280
54872	PIGG	HP:0030047	Abnormal lateral ventricle morphology	HP:0040282	ORPHA:488635
54872	PIGG	HP:0001519	Disproportionate tall stature	HP:0040283	ORPHA:280
54872	PIGG	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:280
54872	PIGG	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:488635
54872	PIGG	HP:0001511	Intrauterine growth retardation	1/5	OMIM:616917
54872	PIGG	HP:0001510	Growth delay	HP:0040282	ORPHA:488635
54872	PIGG	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:280
54872	PIGG	HP:0005264	Abnormality of the gallbladder	HP:0040283	ORPHA:280
54872	PIGG	HP:0000365	Hearing impairment	HP:0040282	ORPHA:280
54872	PIGG	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:280
54872	PIGG	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:280
54872	PIGG	HP:0000348	High forehead	HP:0040281	ORPHA:280
54872	PIGG	HP:0000347	Micrognathia	HP:0040281	ORPHA:280
54872	PIGG	HP:0000316	Hypertelorism	HP:0040281	ORPHA:280
54872	PIGG	HP:0000316	Hypertelorism	HP:0040283	ORPHA:488635
54872	PIGG	HP:0001654	Abnormal heart valve morphology	HP:0040282	ORPHA:280
54872	PIGG	HP:0000322	Short philtrum	HP:0040281	ORPHA:280
54872	PIGG	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:280
54872	PIGG	HP:0011193	EEG with focal spikes	HP:0040283	ORPHA:488635
54872	PIGG	HP:0011193	EEG with focal spikes	-	OMIM:616917
54872	PIGG	HP:0006655	Rib segmentation abnormalities	HP:0040282	ORPHA:280
54872	PIGG	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:488635
54872	PIGG	HP:0000486	Strabismus	HP:0040283	ORPHA:280
54872	PIGG	HP:0000485	Megalocornea	HP:0040283	ORPHA:280
54872	PIGG	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:280
54872	PIGG	HP:0000488	Retinopathy	HP:0040283	ORPHA:280
54872	PIGG	HP:0001763	Pes planus	HP:0040283	ORPHA:488635
54872	PIGG	HP:0000445	Wide nose	HP:0040283	ORPHA:488635
54872	PIGG	HP:0001760	Abnormal foot morphology	HP:0040282	ORPHA:280
54872	PIGG	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:280
54872	PIGG	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:280
54872	PIGG	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040282	ORPHA:280
54872	PIGG	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040283	ORPHA:280
54872	PIGG	HP:0000520	Proptosis	HP:0040283	ORPHA:280
54872	PIGG	HP:0000508	Ptosis	HP:0040282	ORPHA:280
54872	PIGG	HP:0000501	Glaucoma	HP:0040283	ORPHA:280
54872	PIGG	HP:0000540	Hypermetropia	HP:0040283	ORPHA:488635
54880	BCOR	HP:0001169	Broad palm	HP:0040282	ORPHA:2712
54880	BCOR	HP:0001188	Hand clenching	HP:0040283	OMIM:300166
54880	BCOR	HP:0001153	Septate vagina	-	OMIM:300166
54880	BCOR	HP:0001159	Syndactyly	4/4	OMIM:309800
54880	BCOR	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
54880	BCOR	HP:0009943	Complete duplication of thumb phalanx	HP:0040282	ORPHA:568
54880	BCOR	HP:0001290	Generalized hypotonia	4/4	OMIM:309800
54880	BCOR	HP:0100818	Long thorax	HP:0040283	ORPHA:568
54880	BCOR	HP:0001270	Motor delay	-	OMIM:300166
54880	BCOR	HP:0001270	Motor delay	4/4	OMIM:309800
54880	BCOR	HP:0001256	Intellectual disability, mild	1/3	OMIM:300166
54880	BCOR	HP:0001250	Seizure	HP:0040283	ORPHA:568
54880	BCOR	HP:0001250	Seizure	HP:0040283	OMIM:300166
54880	BCOR	HP:0001250	Seizure	1/4	OMIM:309800
54880	BCOR	HP:0001252	Hypotonia	-	OMIM:309800
54880	BCOR	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2712
54880	BCOR	HP:0001249	Intellectual disability	HP:0040282	ORPHA:568
54880	BCOR	HP:0001249	Intellectual disability	4/4	OMIM:309800
54880	BCOR	HP:0001264	Spastic diplegia	-	OMIM:309800
54880	BCOR	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2712
54880	BCOR	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:2712
54880	BCOR	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:568
54880	BCOR	HP:0031035	Chronic infection	HP:0040282	ORPHA:520
54880	BCOR	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:568
54880	BCOR	HP:0008678	Renal hypoplasia/aplasia	-	OMIM:309800
54880	BCOR	HP:0008678	Renal hypoplasia/aplasia	HP:0040282	ORPHA:568
54880	BCOR	HP:0001212	Prominent fingertip pads	4/4	OMIM:309800
54880	BCOR	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:2712
54880	BCOR	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:520
54880	BCOR	HP:0000089	Renal hypoplasia	-	OMIM:309800
54880	BCOR	HP:0000072	Hydroureter	-	OMIM:309800
54880	BCOR	HP:0000072	Hydroureter	HP:0040282	ORPHA:568
54880	BCOR	HP:0001371	Flexion contracture	HP:0040283	OMIM:300166
54880	BCOR	HP:0000047	Hypospadias	-	OMIM:309800
54880	BCOR	HP:0000047	Hypospadias	HP:0040282	ORPHA:568
54880	BCOR	HP:0000047	Hypospadias	HP:0040283	OMIM:300166
54880	BCOR	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:568
54880	BCOR	HP:0000028	Cryptorchidism	-	OMIM:300166
54880	BCOR	HP:0000028	Cryptorchidism	-	OMIM:309800
54880	BCOR	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:2712
54880	BCOR	HP:0001324	Muscle weakness	HP:0040282	ORPHA:520
54880	BCOR	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
54880	BCOR	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
54880	BCOR	HP:0001305	Dandy-Walker malformation	1/11	OMIM:300166
54880	BCOR	HP:0002653	Bone pain	HP:0040283	ORPHA:520
54880	BCOR	HP:0002650	Scoliosis	HP:0040283	ORPHA:2712
54880	BCOR	HP:0002650	Scoliosis	HP:0040283	ORPHA:568
54880	BCOR	HP:0002650	Scoliosis	HP:0040283	OMIM:300166
54880	BCOR	HP:0002650	Scoliosis	4/4	OMIM:309800
54880	BCOR	HP:0000193	Bifid uvula	2/3	OMIM:300166
54880	BCOR	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:2712
54880	BCOR	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:568
54880	BCOR	HP:0000176	Submucous cleft hard palate	2/11	OMIM:300166
54880	BCOR	HP:0000176	Submucous cleft hard palate	HP:0040282	ORPHA:2712
54880	BCOR	HP:0000175	Cleft palate	HP:0040282	ORPHA:2712
54880	BCOR	HP:0000174	Abnormal palate morphology	HP:0040282	ORPHA:2712
54880	BCOR	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
54880	BCOR	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
54880	BCOR	HP:0006335	Persistence of primary teeth	8/8	OMIM:300166
54880	BCOR	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:2712
54880	BCOR	HP:0002705	High, narrow palate	-	OMIM:309800
54880	BCOR	HP:0025420	Diffuse alveolar hemorrhage	HP:0040283	ORPHA:520
54880	BCOR	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:568
54880	BCOR	HP:0001423	X-linked dominant inheritance	-	OMIM:300166
54880	BCOR	HP:0002751	Kyphoscoliosis	-	OMIM:309800
54880	BCOR	HP:0001417	X-linked inheritance	-	OMIM:309800
54880	BCOR	HP:0031245	Productive cough	HP:0040283	ORPHA:520
54880	BCOR	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:520
54880	BCOR	HP:0002023	Anal atresia	-	OMIM:309800
54880	BCOR	HP:0002021	Pyloric stenosis	-	OMIM:309800
54880	BCOR	HP:0002035	Rectal prolapse	-	OMIM:309800
54880	BCOR	HP:0004691	2-3 toe syndactyly	HP:0040282	ORPHA:2712
54880	BCOR	HP:0004691	2-3 toe syndactyly	5/11	OMIM:300166
54880	BCOR	HP:0002027	Abdominal pain	HP:0040283	ORPHA:520
54880	BCOR	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:568
54880	BCOR	HP:0033189	Radiculomegaly	8/11	OMIM:300166
54880	BCOR	HP:0002089	Pulmonary hypoplasia	HP:0040283	OMIM:309800
54880	BCOR	HP:0002079	Hypoplasia of the corpus callosum	1/11	OMIM:300166
54880	BCOR	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:520
54880	BCOR	HP:0002039	Anorexia	HP:0040282	ORPHA:520
54880	BCOR	HP:0009466	Radial deviation of finger	-	OMIM:309800
54880	BCOR	HP:0009473	Joint contracture of the hand	-	OMIM:309800
54880	BCOR	HP:0011900	Hypofibrinogenemia	HP:0040283	ORPHA:520
54880	BCOR	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:568
54880	BCOR	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:568
54880	BCOR	HP:0002251	Aganglionic megacolon	-	OMIM:309800
54880	BCOR	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:568
54880	BCOR	HP:0010722	Asymmetry of the ears	-	OMIM:300166
54880	BCOR	HP:0100758	Gangrene	HP:0040284	ORPHA:520
54880	BCOR	HP:0020006	Ciliary body coloboma	-	OMIM:309800
54880	BCOR	HP:0001018	Abnormal palmar dermatoglyphics	-	OMIM:309800
54880	BCOR	HP:0002321	Vertigo	HP:0040282	ORPHA:520
54880	BCOR	HP:0002313	Spastic paraparesis	HP:0040283	OMIM:300166
54880	BCOR	HP:0200021	Down-sloping shoulders	-	OMIM:309800
54880	BCOR	HP:0100608	Metrorrhagia	HP:0040284	ORPHA:520
54880	BCOR	HP:0001083	Ectopia lentis	HP:0040283	ORPHA:2712
54880	BCOR	HP:0009778	Short thumb	HP:0040283	ORPHA:2712
54880	BCOR	HP:0009755	Ankyloblepharon	HP:0040283	ORPHA:568
54880	BCOR	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040283	ORPHA:2712
54880	BCOR	HP:0003621	Juvenile onset	8/19	OMIM:180100
54880	BCOR	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:2712
54880	BCOR	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:568
54880	BCOR	HP:0005521	Disseminated intravascular coagulation	HP:0040282	ORPHA:520
54880	BCOR	HP:0000639	Nystagmus	HP:0040283	ORPHA:568
54880	BCOR	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:520
54880	BCOR	HP:0000618	Blindness	-	OMIM:309800
54880	BCOR	HP:0000612	Iris coloboma	HP:0040283	ORPHA:2712
54880	BCOR	HP:0000612	Iris coloboma	HP:0040282	ORPHA:568
54880	BCOR	HP:0000612	Iris coloboma	20/20	OMIM:309800
54880	BCOR	HP:0000612	Iris coloboma	1/3	OMIM:300166
54880	BCOR	HP:0001945	Fever	HP:0040282	ORPHA:520
54880	BCOR	HP:0001903	Anemia	HP:0040282	ORPHA:520
54880	BCOR	HP:0010055	Broad hallux	2/3	OMIM:300166
54880	BCOR	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:2712
54880	BCOR	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:568
54880	BCOR	HP:0000684	Delayed eruption of teeth	3/3	OMIM:300166
54880	BCOR	HP:0000678	Dental crowding	-	OMIM:309800
54880	BCOR	HP:0000677	Oligodontia	2/3	OMIM:300166
54880	BCOR	HP:0000677	Oligodontia	HP:0040282	ORPHA:2712
54880	BCOR	HP:0000692	Tooth malposition	-	OMIM:309800
54880	BCOR	HP:0000692	Tooth malposition	HP:0040282	ORPHA:2712
54880	BCOR	HP:0000690	Agenesis of maxillary lateral incisor	-	OMIM:309800
54880	BCOR	HP:0000689	Dental malocclusion	-	OMIM:300166
54880	BCOR	HP:0000662	Nyctalopia	26/28	OMIM:180100
54880	BCOR	HP:0000667	Phthisis bulbi	HP:0040283	OMIM:300166
54880	BCOR	HP:0004325	Decreased body weight	HP:0040283	OMIM:300166
54880	BCOR	HP:0004322	Short stature	HP:0040282	ORPHA:568
54880	BCOR	HP:0004322	Short stature	-	OMIM:300166
54880	BCOR	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:568
54880	BCOR	HP:0003043	Abnormal shoulder morphology	HP:0040283	ORPHA:568
54880	BCOR	HP:0000767	Pectus excavatum	4/4	OMIM:309800
54880	BCOR	HP:0000742	Self-mutilation	-	OMIM:309800
54880	BCOR	HP:0000718	Aggressive behavior	-	OMIM:309800
54880	BCOR	HP:0000729	Autistic behavior	HP:0040283	OMIM:309800
54880	BCOR	HP:0011463	Childhood onset	3/19	OMIM:180100
54880	BCOR	HP:0011462	Young adult onset	8/19	OMIM:180100
54880	BCOR	HP:0000774	Narrow chest	-	OMIM:309800
54880	BCOR	HP:0000790	Hematuria	HP:0040284	ORPHA:520
54880	BCOR	HP:0005709	2-3 toe cutaneous syndactyly	1/3	OMIM:300166
54880	BCOR	HP:0000889	Abnormal clavicle morphology	HP:0040283	ORPHA:568
54880	BCOR	HP:0000846	Adrenal insufficiency	HP:0040283	OMIM:300166
54880	BCOR	HP:0100348	Contracture of the proximal interphalangeal joint of the 2nd toe	3/3	OMIM:300166
54880	BCOR	HP:0100349	Contracture of the proximal interphalangeal joint of the 3rd toe	3/3	OMIM:300166
54880	BCOR	HP:0000821	Hypothyroidism	HP:0040283	OMIM:300166
54880	BCOR	HP:0010280	Stomatitis	HP:0040283	ORPHA:520
54880	BCOR	HP:0040080	Anteverted ears	-	OMIM:300166
54880	BCOR	HP:0000894	Short clavicles	-	OMIM:309800
54880	BCOR	HP:0010327	Flexion contracture of the 2nd toe	HP:0040282	ORPHA:2712
54880	BCOR	HP:0000979	Purpura	HP:0040282	ORPHA:520
54880	BCOR	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:520
54880	BCOR	HP:0000967	Petechiae	HP:0040282	ORPHA:520
54880	BCOR	HP:0010339	Flexion contracture of the 4th toe	HP:0040282	ORPHA:2712
54880	BCOR	HP:0000275	Narrow face	HP:0040282	ORPHA:2712
54880	BCOR	HP:0000275	Narrow face	-	OMIM:300166
54880	BCOR	HP:0000276	Long face	-	OMIM:300166
54880	BCOR	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
54880	BCOR	HP:0007733	Laterally curved eyebrow	-	OMIM:300166
54880	BCOR	HP:0030084	Clinodactyly	4/4	OMIM:309800
54880	BCOR	HP:0002808	Kyphosis	HP:0040283	ORPHA:568
54880	BCOR	HP:0000252	Microcephaly	HP:0040282	ORPHA:568
54880	BCOR	HP:0000252	Microcephaly	1/11	OMIM:300166
54880	BCOR	HP:0000252	Microcephaly	-	OMIM:309800
54880	BCOR	HP:0000218	High palate	4/4	OMIM:309800
54880	BCOR	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:520
54880	BCOR	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:520
54880	BCOR	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:520
54880	BCOR	HP:0002857	Genu valgum	HP:0040283	ORPHA:2712
54880	BCOR	HP:0001537	Umbilical hernia	HP:0040283	OMIM:300166
54880	BCOR	HP:0000202	Orofacial cleft	-	OMIM:309800
54880	BCOR	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:568
54880	BCOR	HP:0000204	Cleft upper lip	-	OMIM:309800
54880	BCOR	HP:0031364	Ecchymosis	HP:0040282	ORPHA:520
54880	BCOR	HP:0001510	Growth delay	-	OMIM:309800
54880	BCOR	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
54880	BCOR	HP:0011090	Fused teeth	HP:0040282	ORPHA:2712
54880	BCOR	HP:0011090	Fused teeth	-	OMIM:300166
54880	BCOR	HP:0011069	Supernumerary tooth	-	OMIM:300166
54880	BCOR	HP:0012378	Fatigue	HP:0040282	ORPHA:520
54880	BCOR	HP:0012385	Camptodactyly	-	OMIM:309800
54880	BCOR	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:568
54880	BCOR	HP:0000378	Cupped ear	1/11	OMIM:300166
54880	BCOR	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:568
54880	BCOR	HP:0000377	Abnormal pinna morphology	-	OMIM:309800
54880	BCOR	HP:0000396	Overfolded helix	-	OMIM:309800
54880	BCOR	HP:0002938	Lumbar hyperlordosis	-	OMIM:309800
54880	BCOR	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:568
54880	BCOR	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2712
54880	BCOR	HP:0000365	Hearing impairment	HP:0040283	ORPHA:568
54880	BCOR	HP:0000365	Hearing impairment	-	OMIM:309800
54880	BCOR	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:568
54880	BCOR	HP:0000358	Posteriorly rotated ears	-	OMIM:300166
54880	BCOR	HP:0000369	Low-set ears	-	OMIM:309800
54880	BCOR	HP:0001671	Abnormal cardiac septum morphology	HP:0040281	ORPHA:2712
54880	BCOR	HP:0000343	Long philtrum	HP:0040282	ORPHA:2712
54880	BCOR	HP:0000343	Long philtrum	3/3	OMIM:300166
54880	BCOR	HP:0001650	Aortic valve stenosis	-	OMIM:300166
54880	BCOR	HP:0001651	Dextrocardia	HP:0040283	OMIM:300166
54880	BCOR	HP:0012304	Hypoplastic aortic arch	1/11	OMIM:300166
54880	BCOR	HP:0001647	Bicuspid aortic valve	-	OMIM:309800
54880	BCOR	HP:0030140	Oral cavity bleeding	HP:0040283	ORPHA:520
54880	BCOR	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:2712
54880	BCOR	HP:0001643	Patent ductus arteriosus	-	OMIM:300166
54880	BCOR	HP:0001642	Pulmonic stenosis	-	OMIM:300166
54880	BCOR	HP:0002974	Radioulnar synostosis	-	OMIM:300166
54880	BCOR	HP:0002974	Radioulnar synostosis	HP:0040282	ORPHA:2712
54880	BCOR	HP:0001629	Ventricular septal defect	2/3	OMIM:300166
54880	BCOR	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:2712
54880	BCOR	HP:0001631	Atrial septal defect	7/11	OMIM:300166
54880	BCOR	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:2712
54880	BCOR	HP:0001634	Mitral valve prolapse	-	OMIM:300166
54880	BCOR	HP:0007968	Remnants of the hyaloid vascular system	-	OMIM:300166
54880	BCOR	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2712
54880	BCOR	HP:0000407	Sensorineural hearing impairment	-	OMIM:300166
54880	BCOR	HP:0000403	Recurrent otitis media	-	OMIM:309800
54880	BCOR	HP:0001719	Double outlet right ventricle	1/11	OMIM:300166
54880	BCOR	HP:0000482	Microcornea	HP:0040281	ORPHA:2712
54880	BCOR	HP:0000482	Microcornea	HP:0040282	ORPHA:568
54880	BCOR	HP:0000482	Microcornea	-	OMIM:309800
54880	BCOR	HP:0000482	Microcornea	-	OMIM:300166
54880	BCOR	HP:0000455	Broad nasal tip	10/14	OMIM:300166
54880	BCOR	HP:0000456	Bifid nasal tip	HP:0040281	ORPHA:2712
54880	BCOR	HP:0000456	Bifid nasal tip	-	OMIM:300166
54880	BCOR	HP:0000465	Webbed neck	HP:0040283	ORPHA:568
54880	BCOR	HP:0000465	Webbed neck	-	OMIM:309800
54880	BCOR	HP:0001765	Hammertoe	5/11	OMIM:300166
54880	BCOR	HP:0001765	Hammertoe	HP:0040282	ORPHA:2712
54880	BCOR	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:300166
54880	BCOR	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:2712
54880	BCOR	HP:0000426	Prominent nasal bridge	8/11	OMIM:300166
54880	BCOR	HP:0000421	Epistaxis	HP:0040282	ORPHA:520
54880	BCOR	HP:0000518	Cataract	HP:0040281	ORPHA:2712
54880	BCOR	HP:0000518	Cataract	HP:0040283	ORPHA:568
54880	BCOR	HP:0000519	Developmental cataract	3/3	OMIM:300166
54880	BCOR	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
54880	BCOR	HP:0000528	Anophthalmia	4/4	OMIM:309800
54880	BCOR	HP:0000528	Anophthalmia	-	OMIM:300166
54880	BCOR	HP:0001852	Sandal gap	2/3	OMIM:300166
54880	BCOR	HP:0001824	Weight loss	HP:0040282	ORPHA:520
54880	BCOR	HP:0000508	Ptosis	HP:0040283	ORPHA:2712
54880	BCOR	HP:0000508	Ptosis	1/3	OMIM:300166
54880	BCOR	HP:0000508	Ptosis	-	OMIM:309800
54880	BCOR	HP:0000505	Visual impairment	HP:0040283	ORPHA:568
54880	BCOR	HP:0000501	Glaucoma	HP:0040283	ORPHA:2712
54880	BCOR	HP:0000501	Glaucoma	HP:0040282	ORPHA:568
54880	BCOR	HP:0000501	Glaucoma	-	OMIM:300166
54880	BCOR	HP:0000581	Blepharophimosis	-	OMIM:300166
54880	BCOR	HP:0000575	Scotoma	5/18	OMIM:180100
54880	BCOR	HP:0000577	Exotropia	-	OMIM:300166
54880	BCOR	HP:0000588	Optic disc coloboma	-	OMIM:309800
54880	BCOR	HP:0000588	Optic disc coloboma	HP:0040282	ORPHA:568
54880	BCOR	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:520
54880	BCOR	HP:0000572	Visual loss	-	OMIM:300166
54880	BCOR	HP:0000574	Thick eyebrow	-	OMIM:300166
54880	BCOR	HP:0000568	Microphthalmia	HP:0040281	ORPHA:2712
54880	BCOR	HP:0000568	Microphthalmia	-	OMIM:309800
54880	BCOR	HP:0000568	Microphthalmia	HP:0040281	ORPHA:568
54880	BCOR	HP:0000568	Microphthalmia	3/3	OMIM:300166
54880	BCOR	HP:0000567	Chorioretinal coloboma	-	OMIM:309800
54880	BCOR	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:568
54880	BCOR	HP:0000541	Retinal detachment	HP:0040283	ORPHA:2712
54880	BCOR	HP:0000541	Retinal detachment	HP:0040283	OMIM:300166
54880	BCOR	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:520
54880	BCOR	HP:0000543	Optic disc pallor	1/1	OMIM:180100
54880	BCOR	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:520
54880	BCOR	HP:0001876	Pancytopenia	HP:0040282	ORPHA:520
54880	BCOR	HP:0000545	Myopia	-	OMIM:180100
54880	BCOR	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:520
54885	TBC1D8B	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
54885	TBC1D8B	HP:0003774	Stage 5 chronic kidney disease	2/4	OMIM:301028
54885	TBC1D8B	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
54885	TBC1D8B	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
54885	TBC1D8B	HP:0000097	Focal segmental glomerulosclerosis	2/3	OMIM:301028
54885	TBC1D8B	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
54885	TBC1D8B	HP:0000093	Proteinuria	6/6	OMIM:301028
54885	TBC1D8B	HP:0001417	X-linked inheritance	-	OMIM:301028
54885	TBC1D8B	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
54885	TBC1D8B	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
54885	TBC1D8B	HP:0003593	Infantile onset	1/6	OMIM:301028
54885	TBC1D8B	HP:0003577	Congenital onset	2/6	OMIM:301028
54885	TBC1D8B	HP:0003581	Adult onset	1/6	OMIM:301028
54885	TBC1D8B	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
54885	TBC1D8B	HP:0002315	Headache	HP:0040283	ORPHA:656
54885	TBC1D8B	HP:0003621	Juvenile onset	1/6	OMIM:301028
54885	TBC1D8B	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
54885	TBC1D8B	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
54885	TBC1D8B	HP:0001945	Fever	HP:0040283	ORPHA:656
54885	TBC1D8B	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
54885	TBC1D8B	HP:0000737	Irritability	HP:0040283	ORPHA:656
54885	TBC1D8B	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
54885	TBC1D8B	HP:0011463	Childhood onset	1/6	OMIM:301028
54885	TBC1D8B	HP:0000969	Edema	HP:0040281	ORPHA:656
54885	TBC1D8B	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
54885	TBC1D8B	HP:0012588	Steroid-resistant nephrotic syndrome	6/6	OMIM:301028
54885	TBC1D8B	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
54888	NSUN2	HP:0001156	Brachydactyly	HP:0040283	ORPHA:235
54888	NSUN2	HP:0009891	Underdeveloped supraorbital ridges	HP:0040281	ORPHA:235
54888	NSUN2	HP:0001276	Hypertonia	11/14	OMIM:611091
54888	NSUN2	HP:0001250	Seizure	HP:0040283	ORPHA:235
54888	NSUN2	HP:0001250	Seizure	2/15	OMIM:611091
54888	NSUN2	HP:0001252	Hypotonia	HP:0040283	ORPHA:235
54888	NSUN2	HP:0001252	Hypotonia	9/11	OMIM:611091
54888	NSUN2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:235
54888	NSUN2	HP:0001249	Intellectual disability	12/12	OMIM:611091
54888	NSUN2	HP:0001260	Dysarthria	-	OMIM:611091
54888	NSUN2	HP:0001263	Global developmental delay	11/11	OMIM:611091
54888	NSUN2	HP:0001257	Spasticity	-	OMIM:611091
54888	NSUN2	HP:0001231	Abnormal fingernail morphology	HP:0040283	ORPHA:235
54888	NSUN2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000055	Abnormal female external genitalia morphology	HP:0040282	ORPHA:235
54888	NSUN2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000047	Hypospadias	HP:0040282	ORPHA:235
54888	NSUN2	HP:0000049	Shawl scrotum	1/1	OMIM:611091
54888	NSUN2	HP:0001347	Hyperreflexia	-	OMIM:611091
54888	NSUN2	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:235
54888	NSUN2	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:235
54888	NSUN2	HP:0008897	Postnatal growth retardation	-	OMIM:611091
54888	NSUN2	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:235
54888	NSUN2	HP:0002664	Neoplasm	HP:0040284	ORPHA:235
54888	NSUN2	HP:0001328	Specific learning disability	HP:0040283	ORPHA:235
54888	NSUN2	HP:0001344	Absent speech	1/1	OMIM:611091
54888	NSUN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:611091
54888	NSUN2	HP:0002665	Lymphoma	HP:0040284	ORPHA:235
54888	NSUN2	HP:0002650	Scoliosis	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000176	Submucous cleft hard palate	HP:0040282	ORPHA:235
54888	NSUN2	HP:0025435	Increased circulating lactate dehydrogenase concentration	2/2	OMIM:611091
54888	NSUN2	HP:0000154	Wide mouth	HP:0040284	ORPHA:235
54888	NSUN2	HP:0008936	Axial hypotonia	-	OMIM:611091
54888	NSUN2	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:235
54888	NSUN2	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:235
54888	NSUN2	HP:0002719	Recurrent infections	HP:0040282	ORPHA:235
54888	NSUN2	HP:0002025	Anal stenosis	HP:0040283	ORPHA:235
54888	NSUN2	HP:0002024	Malabsorption	HP:0040283	ORPHA:235
54888	NSUN2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:235
54888	NSUN2	HP:0002019	Constipation	HP:0040283	ORPHA:235
54888	NSUN2	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:235
54888	NSUN2	HP:0004692	4-5 toe syndactyly	1/3	OMIM:611091
54888	NSUN2	HP:0002028	Chronic diarrhea	HP:0040283	ORPHA:235
54888	NSUN2	HP:0002013	Vomiting	HP:0040283	ORPHA:235
54888	NSUN2	HP:0002099	Asthma	HP:0040283	ORPHA:235
54888	NSUN2	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:235
54888	NSUN2	HP:0002066	Gait ataxia	1/1	OMIM:611091
54888	NSUN2	HP:0002064	Spastic gait	1/1	OMIM:611091
54888	NSUN2	HP:0002136	Broad-based gait	2/3	OMIM:611091
54888	NSUN2	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040281	ORPHA:235
54888	NSUN2	HP:0009602	Abnormality of thumb phalanx	HP:0040281	ORPHA:235
54888	NSUN2	HP:0003593	Infantile onset	3/3	OMIM:611091
54888	NSUN2	HP:0002213	Fine hair	HP:0040282	ORPHA:235
54888	NSUN2	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:235
54888	NSUN2	HP:0009738	Abnormal antihelix morphology	HP:0040282	ORPHA:235
54888	NSUN2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:235
54888	NSUN2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:235
54888	NSUN2	HP:0002342	Intellectual disability, moderate	3/3	OMIM:611091
54888	NSUN2	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:235
54888	NSUN2	HP:0200055	Small hand	HP:0040282	ORPHA:235
54888	NSUN2	HP:0033454	Tube feeding	1/1	OMIM:611091
54888	NSUN2	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:235
54888	NSUN2	HP:0000639	Nystagmus	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000613	Photophobia	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000612	Iris coloboma	HP:0040284	ORPHA:235
54888	NSUN2	HP:0000601	Hypotelorism	-	OMIM:611091
54888	NSUN2	HP:0001903	Anemia	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000678	Dental crowding	HP:0040283	ORPHA:235
54888	NSUN2	HP:0011304	Broad thumb	HP:0040281	ORPHA:235
54888	NSUN2	HP:0000664	Synophrys	-	OMIM:611091
54888	NSUN2	HP:0000666	Horizontal nystagmus	1/3	OMIM:611091
54888	NSUN2	HP:0004322	Short stature	HP:0040281	ORPHA:235
54888	NSUN2	HP:0004322	Short stature	8/12	OMIM:611091
54888	NSUN2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000736	Short attention span	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000750	Delayed speech and language development	-	OMIM:611091
54888	NSUN2	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000717	Autism	1/1	OMIM:611091
54888	NSUN2	HP:0011463	Childhood onset	1/1	OMIM:611091
54888	NSUN2	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:235
54888	NSUN2	HP:0003186	Inverted nipples	1/1	OMIM:611091
54888	NSUN2	HP:5200060	Auditory hypersensitivity	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000829	Hypoparathyroidism	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040284	ORPHA:235
54888	NSUN2	HP:0003236	Elevated circulating creatine kinase concentration	1/2	OMIM:611091
54888	NSUN2	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000958	Dry skin	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000965	Cutis marmorata	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:235
54888	NSUN2	HP:0000964	Eczematoid dermatitis	HP:0040283	OMIM:611091
54888	NSUN2	HP:0000960	Sacral dimple	HP:0040283	ORPHA:235
54888	NSUN2	HP:0008070	Sparse hair	HP:0040283	OMIM:611091
54888	NSUN2	HP:0000286	Epicanthus	HP:0040282	ORPHA:235
54888	NSUN2	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:235
54888	NSUN2	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:235
54888	NSUN2	HP:0000275	Narrow face	HP:0040282	ORPHA:235
54888	NSUN2	HP:0000275	Narrow face	-	OMIM:611091
54888	NSUN2	HP:0000276	Long face	-	OMIM:611091
54888	NSUN2	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:235
54888	NSUN2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000252	Microcephaly	HP:0040281	ORPHA:235
54888	NSUN2	HP:0000252	Microcephaly	9/11	OMIM:611091
54888	NSUN2	HP:0000218	High palate	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000215	Thick upper lip vermilion	-	OMIM:611091
54888	NSUN2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:235
54888	NSUN2	HP:0001518	Small for gestational age	-	OMIM:611091
54888	NSUN2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:235
54888	NSUN2	HP:0001609	Hoarse voice	HP:0040282	ORPHA:235
54888	NSUN2	HP:0000365	Hearing impairment	1/1	OMIM:611091
54888	NSUN2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:235
54888	NSUN2	HP:0000340	Sloping forehead	HP:0040282	ORPHA:235
54888	NSUN2	HP:0000347	Micrognathia	HP:0040282	ORPHA:235
54888	NSUN2	HP:0000319	Smooth philtrum	-	OMIM:611091
54888	NSUN2	HP:0000316	Hypertelorism	HP:0040283	OMIM:611091
54888	NSUN2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:235
54888	NSUN2	HP:0000331	Short chin	-	OMIM:611091
54888	NSUN2	HP:0000322	Short philtrum	-	OMIM:611091
54888	NSUN2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:235
54888	NSUN2	HP:0001620	Abnormally high-pitched voice	HP:0040282	ORPHA:235
54888	NSUN2	HP:0005338	Sparse lateral eyebrow	HP:0040282	ORPHA:235
54888	NSUN2	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:235
54888	NSUN2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:235
54888	NSUN2	HP:0000486	Strabismus	5/8	OMIM:611091
54888	NSUN2	HP:0000486	Strabismus	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000485	Megalocornea	HP:0040284	ORPHA:235
54888	NSUN2	HP:0001771	Achilles tendon contracture	2/3	OMIM:611091
54888	NSUN2	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:235
54888	NSUN2	HP:0001773	Short foot	HP:0040282	ORPHA:235
54888	NSUN2	HP:0000448	Prominent nose	-	OMIM:611091
54888	NSUN2	HP:0000411	Protruding ear	HP:0040282	ORPHA:235
54888	NSUN2	HP:0000431	Wide nasal bridge	HP:0040283	OMIM:611091
54888	NSUN2	HP:0000430	Underdeveloped nasal alae	-	OMIM:611091
54888	NSUN2	HP:0001761	Pes cavus	2/3	OMIM:611091
54888	NSUN2	HP:0000426	Prominent nasal bridge	HP:0040283	OMIM:611091
54888	NSUN2	HP:0006721	Acute lymphoblastic leukemia	HP:0040284	ORPHA:235
54888	NSUN2	HP:0000518	Cataract	HP:0040283	ORPHA:235
54888	NSUN2	HP:0001840	Metatarsus adductus	HP:0040283	ORPHA:235
54888	NSUN2	HP:0001852	Sandal gap	HP:0040282	ORPHA:235
54888	NSUN2	HP:0000506	Telecanthus	HP:0040281	ORPHA:235
54888	NSUN2	HP:0000506	Telecanthus	HP:0040283	OMIM:611091
54888	NSUN2	HP:0000508	Ptosis	HP:0040282	ORPHA:235
54888	NSUN2	HP:0001800	Hypoplastic toenails	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:235
54888	NSUN2	HP:0000581	Blepharophimosis	HP:0040283	OMIM:611091
54888	NSUN2	HP:0000574	Thick eyebrow	-	OMIM:611091
54888	NSUN2	HP:0000568	Microphthalmia	HP:0040284	ORPHA:235
54888	NSUN2	HP:0001874	Abnormality of neutrophils	HP:0040283	ORPHA:235
54888	NSUN2	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:235
54888	NSUN2	HP:0000545	Myopia	HP:0040283	ORPHA:235
54892	NCAPG2	HP:0001128	Trichiasis	1/2	OMIM:618460
54892	NCAPG2	HP:0001276	Hypertonia	1/2	OMIM:618460
54892	NCAPG2	HP:0001252	Hypotonia	1/2	OMIM:618460
54892	NCAPG2	HP:0001263	Global developmental delay	1/2	OMIM:618460
54892	NCAPG2	HP:0002553	Highly arched eyebrow	1/2	OMIM:618460
54892	NCAPG2	HP:0000089	Renal hypoplasia	2/2	OMIM:618460
54892	NCAPG2	HP:0000076	Vesicoureteral reflux	1/2	OMIM:618460
54892	NCAPG2	HP:0000073	Ureteral duplication	1/2	OMIM:618460
54892	NCAPG2	HP:0001344	Absent speech	1/2	OMIM:618460
54892	NCAPG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618460
54892	NCAPG2	HP:0001320	Cerebellar vermis hypoplasia	1/2	OMIM:618460
54892	NCAPG2	HP:0002650	Scoliosis	1/2	OMIM:618460
54892	NCAPG2	HP:0001476	Delayed closure of the anterior fontanelle	1/2	OMIM:618460
54892	NCAPG2	HP:0000126	Hydronephrosis	2/2	OMIM:618460
54892	NCAPG2	HP:0000107	Renal cyst	1/2	OMIM:618460
54892	NCAPG2	HP:0002015	Dysphagia	1/2	OMIM:618460
54892	NCAPG2	HP:0002007	Frontal bossing	1/2	OMIM:618460
54892	NCAPG2	HP:0002144	Tethered cord	1/2	OMIM:618460
54892	NCAPG2	HP:0002119	Ventriculomegaly	1/2	OMIM:618460
54892	NCAPG2	HP:0010535	Sleep apnea	1/2	OMIM:618460
54892	NCAPG2	HP:0003577	Congenital onset	2/2	OMIM:618460
54892	NCAPG2	HP:0011968	Feeding difficulties	-	OMIM:618460
54892	NCAPG2	HP:0010804	Tented upper lip vermilion	1/2	OMIM:618460
54892	NCAPG2	HP:0000639	Nystagmus	1/2	OMIM:618460
54892	NCAPG2	HP:0001903	Anemia	1/2	OMIM:618460
54892	NCAPG2	HP:0000659	Peters anomaly	1/2	OMIM:618460
54892	NCAPG2	HP:0004322	Short stature	1/1	OMIM:618460
54892	NCAPG2	HP:0031936	Delayed ability to walk	1/2	OMIM:618460
54892	NCAPG2	HP:0003196	Short nose	1/2	OMIM:618460
54892	NCAPG2	HP:0034392	Joint contracture	1/2	OMIM:618460
54892	NCAPG2	HP:0011649	Patent ductus arteriosus after premature birth	1/2	OMIM:618460
54892	NCAPG2	HP:0100259	Postaxial polydactyly	1/2	OMIM:618460
54892	NCAPG2	HP:0000960	Sacral dimple	2/2	OMIM:618460
54892	NCAPG2	HP:0011668	Bilateral superior vena cava with no bridging vein	1/2	OMIM:618460
54892	NCAPG2	HP:0030084	Clinodactyly	1/2	OMIM:618460
54892	NCAPG2	HP:0000252	Microcephaly	2/2	OMIM:618460
54892	NCAPG2	HP:0000207	Triangular mouth	1/2	OMIM:618460
54892	NCAPG2	HP:0001508	Failure to thrive	1/2	OMIM:618460
54892	NCAPG2	HP:0030048	Colpocephaly	1/2	OMIM:618460
54892	NCAPG2	HP:0001511	Intrauterine growth retardation	1/2	OMIM:618460
54892	NCAPG2	HP:0005180	Tricuspid regurgitation	1/2	OMIM:618460
54892	NCAPG2	HP:0000347	Micrognathia	1/2	OMIM:618460
54892	NCAPG2	HP:0001655	Patent foramen ovale	1/2	OMIM:618460
54892	NCAPG2	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:618460
54892	NCAPG2	HP:0000486	Strabismus	1/2	OMIM:618460
54892	NCAPG2	HP:0000505	Visual impairment	2/2	OMIM:618460
54892	NCAPG2	HP:0000501	Glaucoma	1/2	OMIM:618460
54892	NCAPG2	HP:0000580	Pigmentary retinopathy	1/2	OMIM:618460
54892	NCAPG2	HP:0011225	Epiblepharon	1/2	OMIM:618460
54892	NCAPG2	HP:0000557	Buphthalmos	2/4	OMIM:618460
54892	NCAPG2	HP:0001888	Decreased total lymphocyte count	1/2	OMIM:618460
54892	NCAPG2	HP:0000559	Corneal scarring	1/2	OMIM:618460
54892	NCAPG2	HP:0001875	Decreased total neutrophil count	1/2	OMIM:618460
54894	RNF43	HP:0032222	Serrated intestinal polyps	-	OMIM:617108
54894	RNF43	HP:0100808	Gastric diverticulum	HP:0040282	ORPHA:157798
54894	RNF43	HP:0100834	Neoplasm of the large intestine	HP:0040283	ORPHA:157798
54894	RNF43	HP:0002576	Intussusception	HP:0040283	OMIM:174900
54894	RNF43	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
54894	RNF43	HP:0001217	Clubbing	HP:0040283	OMIM:174900
54894	RNF43	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
54894	RNF43	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
54894	RNF43	HP:0000006	Autosomal dominant inheritance	-	OMIM:617108
54894	RNF43	HP:0012189	Hodgkin lymphoma	HP:0040284	ORPHA:157798
54894	RNF43	HP:0012125	Prostate cancer	HP:0040284	ORPHA:157798
54894	RNF43	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
54894	RNF43	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
54894	RNF43	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
54894	RNF43	HP:0100574	Biliary tract neoplasm	HP:0040284	ORPHA:157798
54894	RNF43	HP:0100728	Germ cell neoplasia	HP:0040284	ORPHA:157798
54894	RNF43	HP:0200063	Colorectal polyposis	HP:0040281	ORPHA:157798
54894	RNF43	HP:0100615	Ovarian neoplasm	HP:0040284	ORPHA:157798
54894	RNF43	HP:0001903	Anemia	HP:0040282	OMIM:174900
54894	RNF43	HP:0003002	Breast carcinoma	HP:0040284	ORPHA:157798
54894	RNF43	HP:0003003	Colon cancer	20%	OMIM:174900
54894	RNF43	HP:0003003	Colon cancer	5/12	OMIM:608456
54894	RNF43	HP:0003073	Hypoalbuminemia	-	OMIM:174900
54894	RNF43	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
54894	RNF43	HP:0100008	Schwannoma	HP:0040284	ORPHA:157798
54894	RNF43	HP:0002861	Melanoma	HP:0040284	ORPHA:157798
54894	RNF43	HP:0002862	Bladder carcinoma	HP:0040284	ORPHA:157798
54894	RNF43	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
54894	RNF43	HP:0005227	Adenomatous colonic polyposis	HP:0040282	ORPHA:157798
54894	RNF43	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
54894	RNF43	HP:0002900	Hypokalemia	-	OMIM:174900
54894	RNF43	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
54894	RNF43	HP:0006725	Pancreatic adenocarcinoma	HP:0040284	ORPHA:157798
54894	RNF43	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
54897	CASZ1	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0002465	Poor speech	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0001107	Ocular albinism	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0008551	Microtia	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0001250	Seizure	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0001252	Hypotonia	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0002591	Polyphagia	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000055	Abnormal female external genitalia morphology	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000047	Hypospadias	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0001344	Absent speech	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0002650	Scoliosis	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000160	Narrow mouth	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0000135	Hypogonadism	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000107	Renal cyst	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0002019	Constipation	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0002015	Dysphagia	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0002242	Abnormal intestine morphology	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0001009	Telangiectasia	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0008499	High hypermetropia	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000639	Nystagmus	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0004322	Short stature	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0004378	Abnormality of the anus	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0012733	Macule	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0000717	Autism	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0003198	Myopathy	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000902	Rib fusion	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000878	11 pairs of ribs	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000892	Bifid ribs	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000286	Epicanthus	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0002808	Kyphosis	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000252	Microcephaly	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0000248	Brachycephaly	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0001513	Obesity	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000343	Long philtrum	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000307	Pointed chin	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0001734	Annular pancreas	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0000486	Strabismus	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0000490	Deeply set eye	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0000464	Abnormality of the neck	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0001773	Short foot	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0001743	Abnormality of the spleen	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0000518	Cataract	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000505	Visual impairment	HP:0040283	ORPHA:1606
54897	CASZ1	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1606
54897	CASZ1	HP:0011228	Horizontal eyebrow	HP:0040281	ORPHA:1606
54897	CASZ1	HP:0000534	Abnormal eyebrow morphology	HP:0040282	ORPHA:1606
54899	PXK	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
54899	PXK	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
54899	PXK	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
54899	PXK	HP:0001250	Seizure	HP:0040283	ORPHA:536
54899	PXK	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
54899	PXK	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
54899	PXK	HP:0001369	Arthritis	HP:0040282	ORPHA:536
54899	PXK	HP:0033834	Malaise	HP:0040281	ORPHA:536
54899	PXK	HP:0012085	Pyuria	HP:0040282	ORPHA:536
54899	PXK	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
54899	PXK	HP:0025300	Malar rash	HP:0040282	ORPHA:536
54899	PXK	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
54899	PXK	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
54899	PXK	HP:0002072	Chorea	HP:0040284	ORPHA:536
54899	PXK	HP:0002039	Anorexia	HP:0040281	ORPHA:536
54899	PXK	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
54899	PXK	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
54899	PXK	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
54899	PXK	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
54899	PXK	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
54899	PXK	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
54899	PXK	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
54899	PXK	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
54899	PXK	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
54899	PXK	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
54899	PXK	HP:0001945	Fever	HP:0040281	ORPHA:536
54899	PXK	HP:0000716	Depression	HP:0040283	ORPHA:536
54899	PXK	HP:0000790	Hematuria	HP:0040282	ORPHA:536
54899	PXK	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
54899	PXK	HP:0000822	Hypertension	HP:0040282	ORPHA:536
54899	PXK	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
54899	PXK	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
54899	PXK	HP:0045073	Serositis	HP:0040283	ORPHA:536
54899	PXK	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
54899	PXK	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
54899	PXK	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
54899	PXK	HP:0001596	Alopecia	HP:0040282	ORPHA:536
54899	PXK	HP:0012378	Fatigue	HP:0040281	ORPHA:536
54899	PXK	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
54899	PXK	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
54899	PXK	HP:0001824	Weight loss	HP:0040281	ORPHA:536
54899	PXK	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
54899	PXK	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
54899	PXK	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
54902	TTC19	HP:0007289	Limb fasciculations	1/4	OMIM:615157
54902	TTC19	HP:0001272	Cerebellar atrophy	2/4	OMIM:615157
54902	TTC19	HP:0001256	Intellectual disability, mild	1/4	OMIM:615157
54902	TTC19	HP:0001251	Ataxia	1/4	OMIM:615157
54902	TTC19	HP:0001260	Dysarthria	3/4	OMIM:615157
54902	TTC19	HP:0001263	Global developmental delay	HP:0040283	OMIM:615157
54902	TTC19	HP:0001259	Coma	2/4	OMIM:615157
54902	TTC19	HP:0002542	Olivopontocerebellar atrophy	-	OMIM:615157
54902	TTC19	HP:0001347	Hyperreflexia	1/4	OMIM:615157
54902	TTC19	HP:0001332	Dystonia	2/4	OMIM:615157
54902	TTC19	HP:0001324	Muscle weakness	-	OMIM:615157
54902	TTC19	HP:0000007	Autosomal recessive inheritance	-	OMIM:615157
54902	TTC19	HP:0001337	Tremor	-	OMIM:615157
54902	TTC19	HP:0001310	Dysmetria	1/4	OMIM:615157
54902	TTC19	HP:0002650	Scoliosis	1/4	OMIM:615157
54902	TTC19	HP:0002015	Dysphagia	1/4	OMIM:615157
54902	TTC19	HP:0100543	Cognitive impairment	-	OMIM:615157
54902	TTC19	HP:0002067	Bradykinesia	1/4	OMIM:615157
54902	TTC19	HP:0002066	Gait ataxia	3/4	OMIM:615157
54902	TTC19	HP:0002075	Dysdiadochokinesis	-	OMIM:615157
54902	TTC19	HP:0002070	Limb ataxia	1/4	OMIM:615157
54902	TTC19	HP:0002059	Cerebral atrophy	-	OMIM:615157
54902	TTC19	HP:0003487	Babinski sign	1/4	OMIM:615157
54902	TTC19	HP:0002120	Cerebral cortical atrophy	1/4	OMIM:615157
54902	TTC19	HP:0011924	Decreased activity of mitochondrial complex III	4/4	OMIM:615157
54902	TTC19	HP:0002186	Apraxia	-	OMIM:615157
54902	TTC19	HP:0002180	Neurodegeneration	-	OMIM:615157
54902	TTC19	HP:0010521	Gait apraxia	1/4	OMIM:615157
54902	TTC19	HP:0003596	Middle age onset	1/4	OMIM:615157
54902	TTC19	HP:0002385	Paraparesis	1/4	OMIM:615157
54902	TTC19	HP:0002322	Resting tremor	1/4	OMIM:615157
54902	TTC19	HP:0002313	Spastic paraparesis	-	OMIM:615157
54902	TTC19	HP:0002311	Incoordination	1/4	OMIM:615157
54902	TTC19	HP:0003621	Juvenile onset	2/4	OMIM:615157
54902	TTC19	HP:0000639	Nystagmus	2/4	OMIM:615157
54902	TTC19	HP:0000651	Diplopia	1/4	OMIM:615157
54902	TTC19	HP:0000764	Peripheral axonal degeneration	3/4	OMIM:615157
54902	TTC19	HP:0000738	Hallucinations	-	OMIM:615157
54902	TTC19	HP:0000739	Anxiety	-	OMIM:615157
54902	TTC19	HP:0000745	Abnormal diminished volition	1/4	OMIM:615157
54902	TTC19	HP:0000716	Depression	-	OMIM:615157
54902	TTC19	HP:0000718	Aggressive behavior	-	OMIM:615157
54902	TTC19	HP:0000722	Compulsive behaviors	-	OMIM:615157
54902	TTC19	HP:0000709	Psychosis	-	OMIM:615157
54902	TTC19	HP:0011463	Childhood onset	1/4	OMIM:615157
54902	TTC19	HP:0012760	Reduced social responsiveness	1/4	OMIM:615157
54902	TTC19	HP:0003202	Skeletal muscle atrophy	1/4	OMIM:615157
54902	TTC19	HP:0034332	Cognitive regression	1/4	OMIM:615157
54902	TTC19	HP:0002871	Central apnea	1/4	OMIM:615157
54902	TTC19	HP:0001618	Dysphonia	2/4	OMIM:615157
54902	TTC19	HP:0000365	Hearing impairment	1/4	OMIM:615157
54903	MKS1	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:564
54903	MKS1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
54903	MKS1	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:564
54903	MKS1	HP:0001162	Postaxial hand polydactyly	4/6	OMIM:249000
54903	MKS1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
54903	MKS1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:220493
54903	MKS1	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
54903	MKS1	HP:0001159	Syndactyly	-	OMIM:249000
54903	MKS1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
54903	MKS1	HP:0009931	Enlarged naris	1/1	OMIM:249000
54903	MKS1	HP:0001195	Single umbilical artery	-	OMIM:249000
54903	MKS1	HP:0002419	Molar tooth sign on MRI	HP:0040281	ORPHA:220493
54903	MKS1	HP:0002419	Molar tooth sign on MRI	2/2	OMIM:617121
54903	MKS1	HP:0002419	Molar tooth sign on MRI	2/2	OMIM:249000
54903	MKS1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
54903	MKS1	HP:0001293	Cranial nerve compression	-	OMIM:131300
54903	MKS1	HP:0001290	Generalized hypotonia	2/2	OMIM:617121
54903	MKS1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220493
54903	MKS1	HP:0001274	Agenesis of corpus callosum	4/4	OMIM:249000
54903	MKS1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:220493
54903	MKS1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
54903	MKS1	HP:0001250	Seizure	HP:0040283	ORPHA:220493
54903	MKS1	HP:0001250	Seizure	HP:0040283	ORPHA:110
54903	MKS1	HP:0001250	Seizure	HP:0040283	ORPHA:475
54903	MKS1	HP:0001252	Hypotonia	HP:0040281	ORPHA:220493
54903	MKS1	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
54903	MKS1	HP:0001252	Hypotonia	2/2	OMIM:249000
54903	MKS1	HP:0001252	Hypotonia	2/7	OMIM:615777
54903	MKS1	HP:0001251	Ataxia	HP:0040281	ORPHA:220493
54903	MKS1	HP:0001251	Ataxia	HP:0040283	ORPHA:110
54903	MKS1	HP:0001251	Ataxia	HP:0040281	ORPHA:475
54903	MKS1	HP:0001251	Ataxia	2/2	OMIM:617121
54903	MKS1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:220493
54903	MKS1	HP:0001249	Intellectual disability	3/3	OMIM:615990
54903	MKS1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
54903	MKS1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
54903	MKS1	HP:0001249	Intellectual disability	-	OMIM:617121
54903	MKS1	HP:0001249	Intellectual disability	5/7	OMIM:615777
54903	MKS1	HP:0001260	Dysarthria	-	OMIM:617121
54903	MKS1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:220493
54903	MKS1	HP:0001263	Global developmental delay	5/7	OMIM:615990
54903	MKS1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
54903	MKS1	HP:0001263	Global developmental delay	2/2	OMIM:617121
54903	MKS1	HP:0001263	Global developmental delay	2/2	OMIM:249000
54903	MKS1	HP:0001263	Global developmental delay	-	OMIM:615777
54903	MKS1	HP:0001257	Spasticity	HP:0040283	ORPHA:110
54903	MKS1	HP:0002566	Intestinal malrotation	-	OMIM:249000
54903	MKS1	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
54903	MKS1	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
54903	MKS1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
54903	MKS1	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
54903	MKS1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
54903	MKS1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:564
54903	MKS1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:220493
54903	MKS1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
54903	MKS1	HP:0002553	Highly arched eyebrow	1/2	OMIM:617121
54903	MKS1	HP:0002515	Waddling gait	54/102	OMIM:131300
54903	MKS1	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
54903	MKS1	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
54903	MKS1	HP:0000068	Urethral atresia	HP:0040283	ORPHA:564
54903	MKS1	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:564
54903	MKS1	HP:0000061	Ambiguous genitalia, female	-	OMIM:249000
54903	MKS1	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
54903	MKS1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
54903	MKS1	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:564
54903	MKS1	HP:0000069	Abnormality of the ureter	-	OMIM:249000
54903	MKS1	HP:0025336	Delayed ability to sit	1/1	OMIM:249000
54903	MKS1	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:564
54903	MKS1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
54903	MKS1	HP:0001382	Joint hypermobility	1/2	OMIM:617121
54903	MKS1	HP:0001382	Joint hypermobility	-	OMIM:615777
54903	MKS1	HP:0000033	Ambiguous genitalia, male	-	OMIM:249000
54903	MKS1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
54903	MKS1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
54903	MKS1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:564
54903	MKS1	HP:0000028	Cryptorchidism	-	OMIM:249000
54903	MKS1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
54903	MKS1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
54903	MKS1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
54903	MKS1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
54903	MKS1	HP:0001324	Muscle weakness	40/96	OMIM:131300
54903	MKS1	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
54903	MKS1	HP:0001341	Olfactory lobe agenesis	-	OMIM:249000
54903	MKS1	HP:0001344	Absent speech	1/1	OMIM:249000
54903	MKS1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
54903	MKS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615990
54903	MKS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
54903	MKS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
54903	MKS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617121
54903	MKS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:249000
54903	MKS1	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:564
54903	MKS1	HP:0001337	Tremor	HP:0040283	ORPHA:220493
54903	MKS1	HP:0001337	Tremor	HP:0040283	ORPHA:475
54903	MKS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
54903	MKS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
54903	MKS1	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:564
54903	MKS1	HP:0001305	Dandy-Walker malformation	-	OMIM:249000
54903	MKS1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:220493
54903	MKS1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
54903	MKS1	HP:0002650	Scoliosis	HP:0040283	ORPHA:220493
54903	MKS1	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
54903	MKS1	HP:0002650	Scoliosis	12/14	OMIM:131300
54903	MKS1	HP:0001321	Cerebellar hypoplasia	-	OMIM:249000
54903	MKS1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
54903	MKS1	HP:0002617	Vascular dilatation	-	OMIM:249000
54903	MKS1	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:564
54903	MKS1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
54903	MKS1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
54903	MKS1	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
54903	MKS1	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
54903	MKS1	HP:0000180	Lobulated tongue	-	OMIM:249000
54903	MKS1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
54903	MKS1	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
54903	MKS1	HP:0000175	Cleft palate	HP:0040283	ORPHA:220493
54903	MKS1	HP:0000175	Cleft palate	0/3	OMIM:249000
54903	MKS1	HP:0000175	Cleft palate	HP:0040282	ORPHA:564
54903	MKS1	HP:0000175	Cleft palate	2/7	OMIM:615777
54903	MKS1	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
54903	MKS1	HP:0000154	Wide mouth	-	OMIM:249000
54903	MKS1	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
54903	MKS1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
54903	MKS1	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
54903	MKS1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
54903	MKS1	HP:0008936	Axial hypotonia	1/1	OMIM:249000
54903	MKS1	HP:0006267	Large placenta	-	OMIM:249000
54903	MKS1	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
54903	MKS1	HP:0000113	Polycystic kidney dysplasia	5/5	OMIM:249000
54903	MKS1	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
54903	MKS1	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:220493
54903	MKS1	HP:0000130	Abnormality of the uterus	-	OMIM:249000
54903	MKS1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
54903	MKS1	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
54903	MKS1	HP:0000104	Renal agenesis	-	OMIM:249000
54903	MKS1	HP:0001408	Bile duct proliferation	-	OMIM:249000
54903	MKS1	HP:0002023	Anal atresia	-	OMIM:249000
54903	MKS1	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
54903	MKS1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
54903	MKS1	HP:0004639	Elevated amniotic fluid alpha-fetoprotein	-	OMIM:249000
54903	MKS1	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
54903	MKS1	HP:0002089	Pulmonary hypoplasia	-	OMIM:249000
54903	MKS1	HP:0002085	Occipital encephalocele	9/9	OMIM:249000
54903	MKS1	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
54903	MKS1	HP:0002084	Encephalocele	HP:0040283	ORPHA:220493
54903	MKS1	HP:0002084	Encephalocele	HP:0040281	ORPHA:564
54903	MKS1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
54903	MKS1	HP:0002099	Asthma	HP:0040283	ORPHA:110
54903	MKS1	HP:0003388	Easy fatigability	36/76	OMIM:131300
54903	MKS1	HP:0010442	Polydactyly	8/8	OMIM:615990
54903	MKS1	HP:0009466	Radial deviation of finger	-	OMIM:249000
54903	MKS1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
54903	MKS1	HP:0010459	True hermaphroditism	HP:0040283	ORPHA:564
54903	MKS1	HP:0003468	Abnormal vertebral morphology	HP:0040283	ORPHA:220493
54903	MKS1	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
54903	MKS1	HP:0002119	Ventriculomegaly	1/1	OMIM:249000
54903	MKS1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:220493
54903	MKS1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
54903	MKS1	HP:0002104	Apnea	HP:0040281	ORPHA:220493
54903	MKS1	HP:0002104	Apnea	HP:0040281	ORPHA:475
54903	MKS1	HP:0002198	Dilated fourth ventricle	3/3	OMIM:249000
54903	MKS1	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
54903	MKS1	HP:0100490	Camptodactyly of finger	1/1	OMIM:249000
54903	MKS1	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
54903	MKS1	HP:0003577	Congenital onset	1/2	OMIM:617121
54903	MKS1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:220493
54903	MKS1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
54903	MKS1	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
54903	MKS1	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
54903	MKS1	HP:0100732	Pancreatic fibrosis	HP:0040283	ORPHA:564
54903	MKS1	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
54903	MKS1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:220493
54903	MKS1	HP:0003510	Severe short stature	7/7	OMIM:615777
54903	MKS1	HP:0002395	Lower limb hyperreflexia	1/2	OMIM:617121
54903	MKS1	HP:0002323	Anencephaly	HP:0040283	ORPHA:564
54903	MKS1	HP:0002323	Anencephaly	-	OMIM:249000
54903	MKS1	HP:0002315	Headache	-	OMIM:131300
54903	MKS1	HP:0004976	Knee dislocation	6/7	OMIM:615777
54903	MKS1	HP:0009803	Short phalanx of finger	-	OMIM:615777
54903	MKS1	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
54903	MKS1	HP:0009763	Limb pain	63/92	OMIM:131300
54903	MKS1	HP:0002308	Chiari malformation	-	OMIM:249000
54903	MKS1	HP:0003621	Juvenile onset	8/19	OMIM:180100
54903	MKS1	HP:0003621	Juvenile onset	-	OMIM:131300
54903	MKS1	HP:0006870	Lobar holoprosencephaly	HP:0040282	ORPHA:564
54903	MKS1	HP:0006872	Cerebral hypoplasia	-	OMIM:249000
54903	MKS1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
54903	MKS1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
54903	MKS1	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
54903	MKS1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
54903	MKS1	HP:0000639	Nystagmus	HP:0040282	ORPHA:220493
54903	MKS1	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
54903	MKS1	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
54903	MKS1	HP:0000639	Nystagmus	2/2	OMIM:617121
54903	MKS1	HP:6001056	Out-toeing	-	OMIM:131300
54903	MKS1	HP:0000651	Diplopia	-	OMIM:131300
54903	MKS1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:564
54903	MKS1	HP:0000647	Sclerocornea	HP:0040282	ORPHA:564
54903	MKS1	HP:0000618	Blindness	HP:0040282	ORPHA:110
54903	MKS1	HP:0000613	Photophobia	HP:0040282	ORPHA:110
54903	MKS1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:220493
54903	MKS1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
54903	MKS1	HP:0000612	Iris coloboma	-	OMIM:249000
54903	MKS1	HP:0001956	Truncal obesity	2/7	OMIM:615777
54903	MKS1	HP:0000601	Hypotelorism	-	OMIM:249000
54903	MKS1	HP:0001903	Anemia	HP:0040283	OMIM:131300
54903	MKS1	HP:0010049	Short metacarpal	-	OMIM:615777
54903	MKS1	HP:0000678	Dental crowding	-	OMIM:615777
54903	MKS1	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
54903	MKS1	HP:0000695	Natal tooth	-	OMIM:249000
54903	MKS1	HP:0000691	Microdontia	HP:0040283	ORPHA:110
54903	MKS1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
54903	MKS1	HP:0000662	Nyctalopia	26/28	OMIM:180100
54903	MKS1	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:220493
54903	MKS1	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
54903	MKS1	HP:0000657	Oculomotor apraxia	2/2	OMIM:617121
54903	MKS1	HP:0000670	Carious teeth	-	OMIM:131300
54903	MKS1	HP:0011304	Broad thumb	2/7	OMIM:615777
54903	MKS1	HP:0000668	Hypodontia	-	OMIM:615777
54903	MKS1	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
54903	MKS1	HP:0000664	Synophrys	-	OMIM:615777
54903	MKS1	HP:0004322	Short stature	HP:0040282	ORPHA:110
54903	MKS1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:220493
54903	MKS1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
54903	MKS1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:564
54903	MKS1	HP:0000800	Cystic renal dysplasia	0/3	OMIM:249000
54903	MKS1	HP:0004396	Poor appetite	-	OMIM:131300
54903	MKS1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
54903	MKS1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
54903	MKS1	HP:0034198	Second trimester onset	4/4	OMIM:249000
54903	MKS1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
54903	MKS1	HP:0003026	Short long bone	7/7	OMIM:615777
54903	MKS1	HP:0031936	Delayed ability to walk	1/1	OMIM:249000
54903	MKS1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
54903	MKS1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
54903	MKS1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
54903	MKS1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
54903	MKS1	HP:0000739	Anxiety	HP:0040283	ORPHA:110
54903	MKS1	HP:0000736	Short attention span	HP:0040282	ORPHA:110
54903	MKS1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
54903	MKS1	HP:0000750	Delayed speech and language development	1/2	OMIM:617121
54903	MKS1	HP:0000750	Delayed speech and language development	-	OMIM:615777
54903	MKS1	HP:0000716	Depression	HP:0040282	ORPHA:110
54903	MKS1	HP:0000717	Autism	HP:0040282	ORPHA:110
54903	MKS1	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
54903	MKS1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
54903	MKS1	HP:0011463	Childhood onset	3/19	OMIM:180100
54903	MKS1	HP:0011462	Young adult onset	8/19	OMIM:180100
54903	MKS1	HP:0011461	Fetal onset	7/7	OMIM:615777
54903	MKS1	HP:0011461	Fetal onset	1/2	OMIM:617121
54903	MKS1	HP:0000774	Narrow chest	2/7	OMIM:615777
54903	MKS1	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
54903	MKS1	HP:0000789	Infertility	HP:0040283	ORPHA:110
54903	MKS1	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
54903	MKS1	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
54903	MKS1	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:220493
54903	MKS1	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
54903	MKS1	HP:0000926	Platyspondyly	1/7	OMIM:615777
54903	MKS1	HP:0003180	Flat acetabular roof	-	OMIM:615777
54903	MKS1	HP:0004482	Relative macrocephaly	-	OMIM:615777
54903	MKS1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
54903	MKS1	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
54903	MKS1	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
54903	MKS1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
54903	MKS1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:220493
54903	MKS1	HP:0000835	Adrenal hypoplasia	-	OMIM:249000
54903	MKS1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
54903	MKS1	HP:0000822	Hypertension	HP:0040282	ORPHA:110
54903	MKS1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
54903	MKS1	HP:0000823	Delayed puberty	-	OMIM:131300
54903	MKS1	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:564
54903	MKS1	HP:0000894	Short clavicles	-	OMIM:615777
54903	MKS1	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
54903	MKS1	HP:0003241	External genital hypoplasia	-	OMIM:249000
54903	MKS1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
54903	MKS1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
54903	MKS1	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
54903	MKS1	HP:0100259	Postaxial polydactyly	3/3	OMIM:249000
54903	MKS1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
54903	MKS1	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040282	ORPHA:564
54903	MKS1	HP:0000286	Epicanthus	1/7	OMIM:615777
54903	MKS1	HP:0000280	Coarse facial features	2/7	OMIM:615777
54903	MKS1	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
54903	MKS1	HP:0000293	Full cheeks	HP:0040282	ORPHA:564
54903	MKS1	HP:0000276	Long face	HP:0040282	ORPHA:220493
54903	MKS1	HP:0000276	Long face	HP:0040282	ORPHA:475
54903	MKS1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:615990
54903	MKS1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
54903	MKS1	HP:0002827	Hip dislocation	3/7	OMIM:615777
54903	MKS1	HP:0030084	Clinodactyly	-	OMIM:249000
54903	MKS1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220493
54903	MKS1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
54903	MKS1	HP:0000238	Hydrocephalus	-	OMIM:249000
54903	MKS1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:564
54903	MKS1	HP:0001583	Rotary nystagmus	1/1	OMIM:249000
54903	MKS1	HP:0000252	Microcephaly	HP:0040281	ORPHA:564
54903	MKS1	HP:0000252	Microcephaly	-	OMIM:249000
54903	MKS1	HP:0000252	Microcephaly	-	OMIM:615777
54903	MKS1	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:564
54903	MKS1	HP:0000219	Thin upper lip vermilion	1/1	OMIM:249000
54903	MKS1	HP:0000218	High palate	HP:0040282	ORPHA:110
54903	MKS1	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
54903	MKS1	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:564
54903	MKS1	HP:0001562	Oligohydramnios	-	OMIM:249000
54903	MKS1	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
54903	MKS1	HP:0002857	Genu valgum	-	OMIM:131300
54903	MKS1	HP:0001539	Omphalocele	-	OMIM:249000
54903	MKS1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
54903	MKS1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:220493
54903	MKS1	HP:0001533	Slender build	-	OMIM:131300
54903	MKS1	HP:0000204	Cleft upper lip	0/3	OMIM:249000
54903	MKS1	HP:0001511	Intrauterine growth retardation	-	OMIM:249000
54903	MKS1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
54903	MKS1	HP:0001513	Obesity	HP:0040281	ORPHA:110
54903	MKS1	HP:0001513	Obesity	8/8	OMIM:615990
54903	MKS1	HP:0007843	Attenuation of retinal blood vessels	1/1	OMIM:615990
54903	MKS1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
54903	MKS1	HP:0007807	Optic nerve compression	-	OMIM:131300
54903	MKS1	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
54903	MKS1	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
54903	MKS1	HP:0012368	Flat face	7/7	OMIM:615777
54903	MKS1	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
54903	MKS1	HP:0000388	Otitis media	HP:0040283	ORPHA:110
54903	MKS1	HP:0006563	Malformation of the hepatic ductal plate	1/1	OMIM:249000
54903	MKS1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
54903	MKS1	HP:0001600	Abnormality of the larynx	-	OMIM:249000
54903	MKS1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
54903	MKS1	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:564
54903	MKS1	HP:0006487	Bowing of the long bones	-	OMIM:249000
54903	MKS1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
54903	MKS1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:564
54903	MKS1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
54903	MKS1	HP:0000365	Hearing impairment	10/67	OMIM:131300
54903	MKS1	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
54903	MKS1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:220493
54903	MKS1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
54903	MKS1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:564
54903	MKS1	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
54903	MKS1	HP:0000369	Low-set ears	-	OMIM:249000
54903	MKS1	HP:0001671	Abnormal cardiac septum morphology	-	OMIM:249000
54903	MKS1	HP:0000340	Sloping forehead	HP:0040282	ORPHA:564
54903	MKS1	HP:0000340	Sloping forehead	-	OMIM:249000
54903	MKS1	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
54903	MKS1	HP:0000343	Long philtrum	1/7	OMIM:615777
54903	MKS1	HP:0011001	Increased bone mineral density	-	OMIM:131300
54903	MKS1	HP:0000337	Broad forehead	1/2	OMIM:617121
54903	MKS1	HP:0000337	Broad forehead	1/1	OMIM:249000
54903	MKS1	HP:0001680	Coarctation of aorta	-	OMIM:249000
54903	MKS1	HP:0000347	Micrognathia	HP:0040282	ORPHA:564
54903	MKS1	HP:0000347	Micrognathia	-	OMIM:249000
54903	MKS1	HP:0001651	Dextrocardia	HP:0040283	ORPHA:220493
54903	MKS1	HP:0000319	Smooth philtrum	1/1	OMIM:249000
54903	MKS1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
54903	MKS1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:564
54903	MKS1	HP:0000316	Hypertelorism	1/2	OMIM:617121
54903	MKS1	HP:0000316	Hypertelorism	-	OMIM:249000
54903	MKS1	HP:0001643	Patent ductus arteriosus	-	OMIM:249000
54903	MKS1	HP:0000311	Round face	2/7	OMIM:615777
54903	MKS1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
54903	MKS1	HP:0001623	Breech presentation	-	OMIM:249000
54903	MKS1	HP:0002970	Genu varum	-	OMIM:615777
54903	MKS1	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
54903	MKS1	HP:0000303	Mandibular prognathia	-	OMIM:131300
54903	MKS1	HP:0005343	Hypoplasia of the bladder	-	OMIM:249000
54903	MKS1	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:564
54903	MKS1	HP:0000400	Macrotia	HP:0040283	ORPHA:110
54903	MKS1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
54903	MKS1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
54903	MKS1	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
54903	MKS1	HP:0000486	Strabismus	HP:0040283	ORPHA:220493
54903	MKS1	HP:0000486	Strabismus	HP:0040283	ORPHA:110
54903	MKS1	HP:0000486	Strabismus	HP:0040283	ORPHA:475
54903	MKS1	HP:0000486	Strabismus	1/2	OMIM:617121
54903	MKS1	HP:0000480	Retinal coloboma	HP:0040283	ORPHA:220493
54903	MKS1	HP:0000482	Microcornea	HP:0040282	ORPHA:564
54903	MKS1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
54903	MKS1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:220493
54903	MKS1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
54903	MKS1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:564
54903	MKS1	HP:0000470	Short neck	HP:0040283	ORPHA:110
54903	MKS1	HP:0000470	Short neck	-	OMIM:249000
54903	MKS1	HP:0000470	Short neck	1/7	OMIM:615777
54903	MKS1	HP:0000465	Webbed neck	-	OMIM:249000
54903	MKS1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
54903	MKS1	HP:0001763	Pes planus	1/7	OMIM:615777
54903	MKS1	HP:0001746	Asplenia	HP:0040283	ORPHA:564
54903	MKS1	HP:0001746	Asplenia	-	OMIM:249000
54903	MKS1	HP:0001747	Accessory spleen	HP:0040283	ORPHA:564
54903	MKS1	HP:0001747	Accessory spleen	-	OMIM:249000
54903	MKS1	HP:0001744	Splenomegaly	-	OMIM:249000
54903	MKS1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
54903	MKS1	HP:0000431	Wide nasal bridge	1/2	OMIM:617121
54903	MKS1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:220493
54903	MKS1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
54903	MKS1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
54903	MKS1	HP:0006706	Cystic liver disease	HP:0040283	ORPHA:564
54903	MKS1	HP:0000518	Cataract	HP:0040283	ORPHA:110
54903	MKS1	HP:0000518	Cataract	HP:0040282	ORPHA:564
54903	MKS1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
54903	MKS1	HP:0000510	Rod-cone dystrophy	7/8	OMIM:615990
54903	MKS1	HP:0001840	Metatarsus adductus	-	OMIM:615777
54903	MKS1	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
54903	MKS1	HP:0000528	Anophthalmia	HP:0040283	ORPHA:564
54903	MKS1	HP:0000520	Proptosis	2/4	OMIM:131300
54903	MKS1	HP:0000520	Proptosis	7/7	OMIM:615777
54903	MKS1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
54903	MKS1	HP:0001829	Foot polydactyly	-	OMIM:249000
54903	MKS1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:220493
54903	MKS1	HP:0000508	Ptosis	HP:0040283	ORPHA:220493
54903	MKS1	HP:0000508	Ptosis	HP:0040283	ORPHA:475
54903	MKS1	HP:0000508	Ptosis	1/1	OMIM:249000
54903	MKS1	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:564
54903	MKS1	HP:0001830	Postaxial foot polydactyly	5/5	OMIM:249000
54903	MKS1	HP:0000580	Pigmentary retinopathy	1/2	OMIM:617121
54903	MKS1	HP:0000575	Scotoma	5/18	OMIM:180100
54903	MKS1	HP:0000592	Blue sclerae	2/7	OMIM:615777
54903	MKS1	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:220493
54903	MKS1	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
54903	MKS1	HP:0000572	Visual loss	HP:0040283	ORPHA:220493
54903	MKS1	HP:0000568	Microphthalmia	-	OMIM:249000
54903	MKS1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:564
54903	MKS1	HP:0000537	Epicanthus inversus	1/1	OMIM:249000
54903	MKS1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
54903	MKS1	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:564
54903	MKS1	HP:0001883	Talipes	HP:0040282	ORPHA:564
54903	MKS1	HP:0001883	Talipes	-	OMIM:249000
54903	MKS1	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
54903	MKS1	HP:0012514	Lower limb pain	4/4	OMIM:131300
54903	MKS1	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
54903	MKS1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
54903	MKS1	HP:0000543	Optic disc pallor	1/2	OMIM:617121
54903	MKS1	HP:0000545	Myopia	-	OMIM:180100
54914	FOCAD	HP:0002480	Hepatic encephalopathy	1/14	OMIM:619991
54914	FOCAD	HP:0100806	Sepsis	3/14	OMIM:619991
54914	FOCAD	HP:0100814	Blue nevus	1/14	OMIM:619991
54914	FOCAD	HP:0100827	Increased total lymphocyte count	1/14	OMIM:619991
54914	FOCAD	HP:0002586	Peritonitis	1/14	OMIM:619991
54914	FOCAD	HP:0001252	Hypotonia	1/14	OMIM:619991
54914	FOCAD	HP:0002594	Pancreatic hypoplasia	1/14	OMIM:619991
54914	FOCAD	HP:0001397	Hepatic steatosis	3/14	OMIM:619991
54914	FOCAD	HP:0001399	Hepatic failure	6/14	OMIM:619991
54914	FOCAD	HP:0001382	Joint hypermobility	3/14	OMIM:619991
54914	FOCAD	HP:0000047	Hypospadias	1/14	OMIM:619991
54914	FOCAD	HP:0000023	Inguinal hernia	6/14	OMIM:619991
54914	FOCAD	HP:0000034	Hydrocele testis	2/14	OMIM:619991
54914	FOCAD	HP:0001357	Plagiocephaly	1/14	OMIM:619991
54914	FOCAD	HP:0000010	Recurrent urinary tract infections	1/14	OMIM:619991
54914	FOCAD	HP:0000007	Autosomal recessive inheritance	-	OMIM:619991
54914	FOCAD	HP:0031142	Abnormal hepatic echogenicity	7/14	OMIM:619991
54914	FOCAD	HP:0031295	Left atrial enlargement	1/14	OMIM:619991
54914	FOCAD	HP:0006254	Elevated circulating alpha-fetoprotein concentration	6/14	OMIM:619991
54914	FOCAD	HP:0000126	Hydronephrosis	2/14	OMIM:619991
54914	FOCAD	HP:0001406	Intrahepatic cholestasis	5/14	OMIM:619991
54914	FOCAD	HP:0003355	Aminoaciduria	1/14	OMIM:619991
54914	FOCAD	HP:0003348	Hyperalaninemia	1/14	OMIM:619991
54914	FOCAD	HP:0002014	Diarrhea	8/14	OMIM:619991
54914	FOCAD	HP:0002013	Vomiting	4/14	OMIM:619991
54914	FOCAD	HP:0033193	Ballooning hepatocyte degeneration	4/14	OMIM:619991
54914	FOCAD	HP:0033196	Portal inflammation	4/14	OMIM:619991
54914	FOCAD	HP:0002090	Pneumonia	2/14	OMIM:619991
54914	FOCAD	HP:0100512	Decreased circulating vitamin D concentration	2/14	OMIM:619991
54914	FOCAD	HP:0100513	Decreased circulating vitamin E concentration	1/14	OMIM:619991
54914	FOCAD	HP:0100598	Pulmonary edema	2/14	OMIM:619991
54914	FOCAD	HP:0002188	Delayed CNS myelination	1/14	OMIM:619991
54914	FOCAD	HP:0004719	Hyperechogenic kidneys	1/14	OMIM:619991
54914	FOCAD	HP:0003593	Infantile onset	5/14	OMIM:619991
54914	FOCAD	HP:0003577	Congenital onset	1/14	OMIM:619991
54914	FOCAD	HP:0002243	Protein-losing enteropathy	1/14	OMIM:619991
54914	FOCAD	HP:0002240	Hepatomegaly	10/14	OMIM:619991
54914	FOCAD	HP:0008404	Nail dystrophy	1/14	OMIM:619991
54914	FOCAD	HP:0007010	Poor fine motor coordination	1/14	OMIM:619991
54914	FOCAD	HP:0010648	Dermal translucency	1/14	OMIM:619991
54914	FOCAD	HP:0011968	Feeding difficulties	6/14	OMIM:619991
54914	FOCAD	HP:0025053	Elevated brain N-acetyl aspartate level by MRS	1/14	OMIM:619991
54914	FOCAD	HP:0009797	Cholesteatoma	1/14	OMIM:619991
54914	FOCAD	HP:0003623	Neonatal onset	7/14	OMIM:619991
54914	FOCAD	HP:0003621	Juvenile onset	1/14	OMIM:619991
54914	FOCAD	HP:0004905	Reduced circulating vitamin A concentration	1/14	OMIM:619991
54914	FOCAD	HP:0000639	Nystagmus	1/14	OMIM:619991
54914	FOCAD	HP:0001942	Metabolic acidosis	3/14	OMIM:619991
54914	FOCAD	HP:0001954	Recurrent fever	2/14	OMIM:619991
54914	FOCAD	HP:0001928	Abnormality of coagulation	7/14	OMIM:619991
54914	FOCAD	HP:0001903	Anemia	5/14	OMIM:619991
54914	FOCAD	HP:0011359	Dry hair	1/14	OMIM:619991
54914	FOCAD	HP:0012653	Status asthmaticus	1/14	OMIM:619991
54914	FOCAD	HP:0001987	Hyperammonemia	2/14	OMIM:619991
54914	FOCAD	HP:0003075	Hypoproteinemia	1/14	OMIM:619991
54914	FOCAD	HP:0004395	Malnutrition	4/14	OMIM:619991
54914	FOCAD	HP:0012735	Cough	2/14	OMIM:619991
54914	FOCAD	HP:0000737	Irritability	1/14	OMIM:619991
54914	FOCAD	HP:0000736	Short attention span	1/14	OMIM:619991
54914	FOCAD	HP:0000750	Delayed speech and language development	1/14	OMIM:619991
54914	FOCAD	HP:0012758	Neurodevelopmental delay	1/14	OMIM:619991
54914	FOCAD	HP:0004488	Macrocephaly at birth	1/14	OMIM:619991
54914	FOCAD	HP:0100327	Cow milk allergy	4/14	OMIM:619991
54914	FOCAD	HP:0000825	Hyperinsulinemic hypoglycemia	5/14	OMIM:619991
54914	FOCAD	HP:0003270	Abdominal distention	11/14	OMIM:619991
54914	FOCAD	HP:0003281	Increased circulating ferritin concentration	5/14	OMIM:619991
54914	FOCAD	HP:0000952	Jaundice	5/14	OMIM:619991
54914	FOCAD	HP:0000964	Eczematoid dermatitis	1/14	OMIM:619991
54914	FOCAD	HP:0000286	Epicanthus	2/14	OMIM:619991
54914	FOCAD	HP:0033994	Dependency on parenteral nutrition	1/14	OMIM:619991
54914	FOCAD	HP:0001541	Ascites	4/14	OMIM:619991
54914	FOCAD	HP:0001537	Umbilical hernia	5/14	OMIM:619991
54914	FOCAD	HP:0001508	Failure to thrive	10/14	OMIM:619991
54914	FOCAD	HP:0001511	Intrauterine growth retardation	9/14	OMIM:619991
54914	FOCAD	HP:0031508	Abnormal circulating thyroid hormone concentration	4/14	OMIM:619991
54914	FOCAD	HP:0005231	Chronic gastritis	2/14	OMIM:619991
54914	FOCAD	HP:0006560	Biliary hyperplasia	4/14	OMIM:619991
54914	FOCAD	HP:0006568	Increased hepatic glycogen content	2/14	OMIM:619991
54914	FOCAD	HP:0002910	Elevated circulating hepatic transaminase concentration	10/14	OMIM:619991
54914	FOCAD	HP:0002904	Hyperbilirubinemia	5/14	OMIM:619991
54914	FOCAD	HP:0002902	Hyponatremia	1/14	OMIM:619991
54914	FOCAD	HP:0002901	Hypocalcemia	1/14	OMIM:619991
54914	FOCAD	HP:0005162	Abnormal left ventricular function	1/14	OMIM:619991
54914	FOCAD	HP:0001682	Subvalvular aortic stenosis	1/14	OMIM:619991
54914	FOCAD	HP:0025631	Alpha-aminobutyric aciduria	1/14	OMIM:619991
54914	FOCAD	HP:0000348	High forehead	1/14	OMIM:619991
54914	FOCAD	HP:0000347	Micrognathia	2/14	OMIM:619991
54914	FOCAD	HP:0001643	Patent ductus arteriosus	2/14	OMIM:619991
54914	FOCAD	HP:0000325	Triangular face	1/14	OMIM:619991
54914	FOCAD	HP:0001655	Patent foramen ovale	2/14	OMIM:619991
54914	FOCAD	HP:0001629	Ventricular septal defect	1/14	OMIM:619991
54914	FOCAD	HP:0001640	Cardiomegaly	1/14	OMIM:619991
54914	FOCAD	HP:0001631	Atrial septal defect	1/14	OMIM:619991
54914	FOCAD	HP:0006698	Dilatation of the ventricular cavity	2/14	OMIM:619991
54914	FOCAD	HP:0001738	Exocrine pancreatic insufficiency	1/14	OMIM:619991
54914	FOCAD	HP:0000403	Recurrent otitis media	2/14	OMIM:619991
54914	FOCAD	HP:0005280	Depressed nasal bridge	2/14	OMIM:619991
54914	FOCAD	HP:0030215	Inappropriate crying	1/14	OMIM:619991
54914	FOCAD	HP:0012465	Elevated hepatic iron concentration	3/14	OMIM:619991
54914	FOCAD	HP:0000418	Narrow nasal ridge	2/14	OMIM:619991
54914	FOCAD	HP:0001744	Splenomegaly	10/14	OMIM:619991
54914	FOCAD	HP:0000520	Proptosis	1/14	OMIM:619991
54914	FOCAD	HP:0031664	Systolic heart murmur	3/14	OMIM:619991
54914	FOCAD	HP:0001882	Decreased total leukocyte count	1/14	OMIM:619991
54914	FOCAD	HP:0001873	Thrombocytopenia	3/14	OMIM:619991
54916	TMEM260	HP:0007430	Generalized edema	2/4	OMIM:617478
54916	TMEM260	HP:0000083	Renal insufficiency	-	OMIM:617478
54916	TMEM260	HP:0012020	Right aortic arch	1/4	OMIM:617478
54916	TMEM260	HP:0001338	Partial agenesis of the corpus callosum	2/4	OMIM:617478
54916	TMEM260	HP:0000007	Autosomal recessive inheritance	-	OMIM:617478
54916	TMEM260	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
54916	TMEM260	HP:0001319	Neonatal hypotonia	1/4	OMIM:617478
54916	TMEM260	HP:0000107	Renal cyst	1/4	OMIM:617478
54916	TMEM260	HP:0010773	Partial anomalous pulmonary venous return	1/4	OMIM:617478
54916	TMEM260	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
54916	TMEM260	HP:0001999	Abnormal facial shape	1/4	OMIM:617478
54916	TMEM260	HP:0004467	Preauricular pit	-	OMIM:187500
54916	TMEM260	HP:0003259	Elevated circulating creatinine concentration	3/3	OMIM:617478
54916	TMEM260	HP:0011662	Tricuspid atresia	1/4	OMIM:617478
54916	TMEM260	HP:0011611	Interrupted aortic arch	1/4	OMIM:617478
54916	TMEM260	HP:0000961	Cyanosis	2/4	OMIM:617478
54916	TMEM260	HP:0000252	Microcephaly	1/4	OMIM:617478
54916	TMEM260	HP:0001522	Death in infancy	3/4	OMIM:617478
54916	TMEM260	HP:0000384	Preauricular skin tag	1/4	OMIM:617478
54916	TMEM260	HP:0000369	Low-set ears	1/4	OMIM:617478
54916	TMEM260	HP:0000337	Broad forehead	-	OMIM:187500
54916	TMEM260	HP:0001660	Truncus arteriosus	2/4	OMIM:617478
54916	TMEM260	HP:0001629	Ventricular septal defect	4/4	OMIM:617478
54916	TMEM260	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
54916	TMEM260	HP:0001636	Tetralogy of Fallot	1/4	OMIM:617478
54916	TMEM260	HP:0001631	Atrial septal defect	1/4	OMIM:617478
54916	TMEM260	HP:0005301	Persistent left superior vena cava	1/4	OMIM:617478
54916	TMEM260	HP:0000465	Webbed neck	1/4	OMIM:617478
54916	TMEM260	HP:0001845	Overlapping toe	1/4	OMIM:617478
54916	TMEM260	HP:0000520	Proptosis	-	OMIM:187500
54916	TMEM260	HP:0031664	Systolic heart murmur	4/4	OMIM:617478
54919	DNAAF5	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
54919	DNAAF5	HP:0001217	Clubbing	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0000007	Autosomal recessive inheritance	-	OMIM:614874
54919	DNAAF5	HP:0002643	Neonatal respiratory distress	8/9	OMIM:614874
54919	DNAAF5	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
54919	DNAAF5	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0031245	Productive cough	HP:0040282	ORPHA:244
54919	DNAAF5	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
54919	DNAAF5	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
54919	DNAAF5	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0008222	Female infertility	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0003593	Infantile onset	1/9	OMIM:614874
54919	DNAAF5	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
54919	DNAAF5	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
54919	DNAAF5	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
54919	DNAAF5	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	-	OMIM:614874
54919	DNAAF5	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
54919	DNAAF5	HP:0003623	Neonatal onset	8/9	OMIM:614874
54919	DNAAF5	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0004469	Chronic bronchitis	3/9	OMIM:614874
54919	DNAAF5	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
54919	DNAAF5	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
54919	DNAAF5	HP:0030828	Wheezing	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0003251	Male infertility	2/3	OMIM:614874
54919	DNAAF5	HP:0003251	Male infertility	HP:0040282	ORPHA:244
54919	DNAAF5	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0033036	Decreased nasal nitric oxide	9/9	OMIM:614874
54919	DNAAF5	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
54919	DNAAF5	HP:0012257	Absent inner dynein arms	9/9	OMIM:614874
54919	DNAAF5	HP:0012265	Ciliary dyskinesia	-	OMIM:614874
54919	DNAAF5	HP:0012263	Immotile cilia	1/1	OMIM:614874
54919	DNAAF5	HP:0012256	Absent outer dynein arms	9/9	OMIM:614874
54919	DNAAF5	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
54919	DNAAF5	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
54919	DNAAF5	HP:0012208	Immotile sperm	-	OMIM:614874
54919	DNAAF5	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
54919	DNAAF5	HP:0012384	Rhinitis	8/9	OMIM:614874
54919	DNAAF5	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
54919	DNAAF5	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0001696	Situs inversus totalis	4/9	OMIM:614874
54919	DNAAF5	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
54919	DNAAF5	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
54919	DNAAF5	HP:0000403	Recurrent otitis media	1/9	OMIM:614874
54919	DNAAF5	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
54919	DNAAF5	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
54919	DNAAF5	HP:0031565	Abdominal situs ambiguus	1/9	OMIM:614874
54919	DNAAF5	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
54919	DNAAF5	HP:0011108	Recurrent sinusitis	8/9	OMIM:614874
54919	DNAAF5	HP:0001746	Asplenia	HP:0040284	ORPHA:244
54919	DNAAF5	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
54919	DNAAF5	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
54919	DNAAF5	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
54919	DNAAF5	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
54919	DNAAF5	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
54928	BPNT2	HP:0001156	Brachydactyly	2/4	OMIM:614078
54928	BPNT2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
54928	BPNT2	HP:0001293	Cranial nerve compression	-	OMIM:131300
54928	BPNT2	HP:0001252	Hypotonia	2/7	OMIM:615777
54928	BPNT2	HP:0001249	Intellectual disability	5/7	OMIM:615777
54928	BPNT2	HP:0001263	Global developmental delay	-	OMIM:615777
54928	BPNT2	HP:0001234	Hitchhiker thumb	1/4	OMIM:614078
54928	BPNT2	HP:0001241	Capitate-hamate fusion	2/4	OMIM:614078
54928	BPNT2	HP:0002515	Waddling gait	54/102	OMIM:131300
54928	BPNT2	HP:0001377	Limited elbow extension	1/4	OMIM:614078
54928	BPNT2	HP:0001385	Hip dysplasia	1/4	OMIM:614078
54928	BPNT2	HP:0001382	Joint hypermobility	-	OMIM:615777
54928	BPNT2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
54928	BPNT2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
54928	BPNT2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
54928	BPNT2	HP:0001324	Muscle weakness	40/96	OMIM:131300
54928	BPNT2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
54928	BPNT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
54928	BPNT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614078
54928	BPNT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
54928	BPNT2	HP:0002650	Scoliosis	12/14	OMIM:131300
54928	BPNT2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
54928	BPNT2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
54928	BPNT2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
54928	BPNT2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
54928	BPNT2	HP:0000160	Narrow mouth	-	OMIM:614078
54928	BPNT2	HP:0000175	Cleft palate	4/4	OMIM:614078
54928	BPNT2	HP:0000175	Cleft palate	2/7	OMIM:615777
54928	BPNT2	HP:0005001	Recurrent patellar dislocation	1/4	OMIM:614078
54928	BPNT2	HP:0003388	Easy fatigability	36/76	OMIM:131300
54928	BPNT2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
54928	BPNT2	HP:0003577	Congenital onset	4/4	OMIM:614078
54928	BPNT2	HP:0003510	Severe short stature	7/7	OMIM:615777
54928	BPNT2	HP:0002315	Headache	-	OMIM:131300
54928	BPNT2	HP:0004976	Knee dislocation	5/8	OMIM:614078
54928	BPNT2	HP:0004976	Knee dislocation	6/7	OMIM:615777
54928	BPNT2	HP:0009826	Limb undergrowth	1/4	OMIM:614078
54928	BPNT2	HP:0009803	Short phalanx of finger	-	OMIM:615777
54928	BPNT2	HP:0009763	Limb pain	63/92	OMIM:131300
54928	BPNT2	HP:0003621	Juvenile onset	-	OMIM:131300
54928	BPNT2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
54928	BPNT2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
54928	BPNT2	HP:6001056	Out-toeing	-	OMIM:131300
54928	BPNT2	HP:0000651	Diplopia	-	OMIM:131300
54928	BPNT2	HP:0001956	Truncal obesity	2/7	OMIM:615777
54928	BPNT2	HP:0001903	Anemia	HP:0040283	OMIM:131300
54928	BPNT2	HP:0010049	Short metacarpal	-	OMIM:615777
54928	BPNT2	HP:0010049	Short metacarpal	2/4	OMIM:614078
54928	BPNT2	HP:0000678	Dental crowding	-	OMIM:615777
54928	BPNT2	HP:0000670	Carious teeth	-	OMIM:131300
54928	BPNT2	HP:0011304	Broad thumb	2/7	OMIM:615777
54928	BPNT2	HP:0000668	Hypodontia	-	OMIM:615777
54928	BPNT2	HP:0000664	Synophrys	-	OMIM:615777
54928	BPNT2	HP:0004322	Short stature	4/8	OMIM:614078
54928	BPNT2	HP:0009190	Irregular epiphyses of the metacarpals	1/4	OMIM:614078
54928	BPNT2	HP:0004396	Poor appetite	-	OMIM:131300
54928	BPNT2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
54928	BPNT2	HP:0003048	Radial head subluxation	1/4	OMIM:614078
54928	BPNT2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
54928	BPNT2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
54928	BPNT2	HP:0003026	Short long bone	7/7	OMIM:615777
54928	BPNT2	HP:0003026	Short long bone	1/4	OMIM:614078
54928	BPNT2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
54928	BPNT2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
54928	BPNT2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
54928	BPNT2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
54928	BPNT2	HP:0000750	Delayed speech and language development	-	OMIM:615777
54928	BPNT2	HP:0011461	Fetal onset	7/7	OMIM:615777
54928	BPNT2	HP:0000774	Narrow chest	2/7	OMIM:615777
54928	BPNT2	HP:0004440	Coronal craniosynostosis	2/8	OMIM:614078
54928	BPNT2	HP:0003196	Short nose	-	OMIM:614078
54928	BPNT2	HP:0000926	Platyspondyly	1/7	OMIM:615777
54928	BPNT2	HP:0003180	Flat acetabular roof	-	OMIM:615777
54928	BPNT2	HP:0004482	Relative macrocephaly	-	OMIM:615777
54928	BPNT2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
54928	BPNT2	HP:0000823	Delayed puberty	-	OMIM:131300
54928	BPNT2	HP:0000894	Short clavicles	-	OMIM:615777
54928	BPNT2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
54928	BPNT2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
54928	BPNT2	HP:0000286	Epicanthus	1/7	OMIM:615777
54928	BPNT2	HP:0000280	Coarse facial features	2/7	OMIM:615777
54928	BPNT2	HP:0002827	Hip dislocation	3/7	OMIM:615777
54928	BPNT2	HP:0000252	Microcephaly	-	OMIM:615777
54928	BPNT2	HP:0002857	Genu valgum	-	OMIM:131300
54928	BPNT2	HP:0002857	Genu valgum	1/4	OMIM:614078
54928	BPNT2	HP:0001533	Slender build	-	OMIM:131300
54928	BPNT2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
54928	BPNT2	HP:0007807	Optic nerve compression	-	OMIM:131300
54928	BPNT2	HP:0012368	Flat face	7/7	OMIM:615777
54928	BPNT2	HP:0012368	Flat face	2/4	OMIM:614078
54928	BPNT2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
54928	BPNT2	HP:0002945	Intervertebral space narrowing	2/4	OMIM:614078
54928	BPNT2	HP:0000365	Hearing impairment	4/7	OMIM:614078
54928	BPNT2	HP:0000365	Hearing impairment	10/67	OMIM:131300
54928	BPNT2	HP:0000343	Long philtrum	1/7	OMIM:615777
54928	BPNT2	HP:0011001	Increased bone mineral density	-	OMIM:131300
54928	BPNT2	HP:0002999	Patellar dislocation	4/4	OMIM:614078
54928	BPNT2	HP:0000348	High forehead	2/4	OMIM:614078
54928	BPNT2	HP:0000347	Micrognathia	4/4	OMIM:614078
54928	BPNT2	HP:0000311	Round face	2/7	OMIM:615777
54928	BPNT2	HP:0002970	Genu varum	-	OMIM:615777
54928	BPNT2	HP:0000303	Mandibular prognathia	-	OMIM:131300
54928	BPNT2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
54928	BPNT2	HP:0000470	Short neck	1/7	OMIM:615777
54928	BPNT2	HP:0001773	Short foot	-	OMIM:614078
54928	BPNT2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
54928	BPNT2	HP:0001763	Pes planus	1/7	OMIM:615777
54928	BPNT2	HP:0000431	Wide nasal bridge	1/4	OMIM:614078
54928	BPNT2	HP:0001840	Metatarsus adductus	-	OMIM:615777
54928	BPNT2	HP:0000520	Proptosis	2/4	OMIM:131300
54928	BPNT2	HP:0000520	Proptosis	1/4	OMIM:614078
54928	BPNT2	HP:0000520	Proptosis	7/7	OMIM:615777
54928	BPNT2	HP:0001831	Short toe	-	OMIM:614078
54928	BPNT2	HP:0000592	Blue sclerae	2/7	OMIM:615777
54928	BPNT2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
54928	BPNT2	HP:0012514	Lower limb pain	4/4	OMIM:131300
54931	TRMT10C	HP:0002490	Increased CSF lactate	2/2	OMIM:616974
54931	TRMT10C	HP:0001252	Hypotonia	2/2	OMIM:616974
54931	TRMT10C	HP:0000007	Autosomal recessive inheritance	-	OMIM:616974
54931	TRMT10C	HP:0001410	Decreased liver function	-	OMIM:616974
54931	TRMT10C	HP:0002020	Gastroesophageal reflux	1/2	OMIM:616974
54931	TRMT10C	HP:0003348	Hyperalaninemia	1/2	OMIM:616974
54931	TRMT10C	HP:0002033	Poor suck	1/2	OMIM:616974
54931	TRMT10C	HP:0030948	Elevated gamma-glutamyltransferase level	1/2	OMIM:616974
54931	TRMT10C	HP:6000182	Absent otoacoustic emissions	1/1	OMIM:616974
54931	TRMT10C	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:616974
54931	TRMT10C	HP:0002126	Polymicrogyria	1/2	OMIM:616974
54931	TRMT10C	HP:0011924	Decreased activity of mitochondrial complex III	1/2	OMIM:616974
54931	TRMT10C	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:616974
54931	TRMT10C	HP:0008347	Decreased activity of mitochondrial complex IV	2/2	OMIM:616974
54931	TRMT10C	HP:0011968	Feeding difficulties	2/2	OMIM:616974
54931	TRMT10C	HP:0008314	Decreased activity of mitochondrial complex II	0/2	OMIM:616974
54931	TRMT10C	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1/1	OMIM:616974
54931	TRMT10C	HP:0003623	Neonatal onset	2/2	OMIM:616974
54931	TRMT10C	HP:0006821	Frontal polymicrogyria	1/2	OMIM:616974
54931	TRMT10C	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/2	OMIM:616974
54931	TRMT10C	HP:0031964	Elevated circulating alanine aminotransferase concentration	2/2	OMIM:616974
54931	TRMT10C	HP:0003128	Lactic acidosis	2/2	OMIM:616974
54931	TRMT10C	HP:0003200	Ragged-red muscle fibers	1/1	OMIM:616974
54931	TRMT10C	HP:0032653	Elevated lactate:pyruvate ratio	1/2	OMIM:616974
54931	TRMT10C	HP:0002878	Respiratory failure	2/2	OMIM:616974
54931	TRMT10C	HP:0001522	Death in infancy	2/2	OMIM:616974
54931	TRMT10C	HP:0001508	Failure to thrive	2/2	OMIM:616974
54931	TRMT10C	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:616974
54931	TRMT10C	HP:0001712	Left ventricular hypertrophy	1/2	OMIM:616974
54936	ADPRS	HP:0002465	Poor speech	-	OMIM:618170
54936	ADPRS	HP:0001272	Cerebellar atrophy	4/9	OMIM:618170
54936	ADPRS	HP:0001250	Seizure	6/11	OMIM:618170
54936	ADPRS	HP:0001251	Ataxia	11/11	OMIM:618170
54936	ADPRS	HP:0001260	Dysarthria	1/12	OMIM:618170
54936	ADPRS	HP:0001263	Global developmental delay	10/12	OMIM:618170
54936	ADPRS	HP:0031165	Multifocal seizures	2/16	OMIM:618170
54936	ADPRS	HP:0001324	Muscle weakness	-	OMIM:618170
54936	ADPRS	HP:0000007	Autosomal recessive inheritance	-	OMIM:618170
54936	ADPRS	HP:0001310	Dysmetria	3/16	OMIM:618170
54936	ADPRS	HP:0001308	Tongue fasciculations	2/16	OMIM:618170
54936	ADPRS	HP:0002080	Intention tremor	1/12	OMIM:618170
54936	ADPRS	HP:0002093	Respiratory insufficiency	6/12	OMIM:618170
54936	ADPRS	HP:0002069	Bilateral tonic-clonic seizure	13/16	OMIM:618170
54936	ADPRS	HP:0002059	Cerebral atrophy	-	OMIM:618170
54936	ADPRS	HP:0003487	Babinski sign	1/12	OMIM:618170
54936	ADPRS	HP:0002121	Generalized non-motor (absence) seizure	3/16	OMIM:618170
54936	ADPRS	HP:0003447	Axonal loss	-	OMIM:618170
54936	ADPRS	HP:0002376	Developmental regression	10/16	OMIM:618170
54936	ADPRS	HP:0006855	Cerebellar vermis atrophy	2/9	OMIM:618170
54936	ADPRS	HP:0000639	Nystagmus	3/11	OMIM:618170
54936	ADPRS	HP:0000651	Diplopia	1/11	OMIM:618170
54936	ADPRS	HP:0000602	Ophthalmoplegia	1/11	OMIM:618170
54936	ADPRS	HP:0011463	Childhood onset	16/16	OMIM:618170
54936	ADPRS	HP:0000252	Microcephaly	3/5	OMIM:618170
54936	ADPRS	HP:0000407	Sensorineural hearing impairment	3/25	OMIM:618170
54936	ADPRS	HP:0000486	Strabismus	2/11	OMIM:618170
54936	ADPRS	HP:0001761	Pes cavus	1/16	OMIM:618170
54936	ADPRS	HP:0000508	Ptosis	1/11	OMIM:618170
54938	SARS2	HP:0001252	Hypotonia	1/3	OMIM:613845
54938	SARS2	HP:0001263	Global developmental delay	3/3	OMIM:613845
54938	SARS2	HP:0000093	Proteinuria	1/3	OMIM:613845
54938	SARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613845
54938	SARS2	HP:0000127	Renal salt wasting	3/3	OMIM:613845
54938	SARS2	HP:0000103	Polyuria	2/2	OMIM:613845
54938	SARS2	HP:0005977	Hypochloremic metabolic alkalosis	3/3	OMIM:613845
54938	SARS2	HP:0002092	Pulmonary arterial hypertension	3/3	OMIM:613845
54938	SARS2	HP:0002093	Respiratory insufficiency	2/3	OMIM:613845
54938	SARS2	HP:0002151	Increased circulating lactate concentration	3/3	OMIM:613845
54938	SARS2	HP:0002149	Hyperuricemia	3/3	OMIM:613845
54938	SARS2	HP:0004719	Hyperechogenic kidneys	2/2	OMIM:613845
54938	SARS2	HP:0003593	Infantile onset	3/3	OMIM:613845
54938	SARS2	HP:0003554	Type 2 muscle fiber atrophy	1/2	OMIM:613845
54938	SARS2	HP:0011968	Feeding difficulties	3/3	OMIM:613845
54938	SARS2	HP:0012622	Chronic kidney disease	-	OMIM:613845
54938	SARS2	HP:0001903	Anemia	-	OMIM:613845
54938	SARS2	HP:0003138	Increased blood urea nitrogen	3/3	OMIM:613845
54938	SARS2	HP:0000819	Diabetes mellitus	3/3	OMIM:613845
54938	SARS2	HP:0002878	Respiratory failure	2/3	OMIM:613845
54938	SARS2	HP:0001508	Failure to thrive	3/3	OMIM:613845
54938	SARS2	HP:0002917	Hypomagnesemia	3/3	OMIM:613845
54938	SARS2	HP:0002902	Hyponatremia	3/3	OMIM:613845
54938	SARS2	HP:0001622	Premature birth	3/3	OMIM:613845
54938	SARS2	HP:0001882	Decreased total leukocyte count	-	OMIM:613845
54938	SARS2	HP:0001873	Thrombocytopenia	-	OMIM:613845
54938	SARS2	HP:0001876	Pancytopenia	1/3	OMIM:613845
54941	RNF125	HP:0001270	Motor delay	1/6	OMIM:616260
54941	RNF125	HP:0001288	Gait disturbance	1/6	OMIM:616260
54941	RNF125	HP:0001279	Syncope	1/6	OMIM:616260
54941	RNF125	HP:0001250	Seizure	1/6	OMIM:616260
54941	RNF125	HP:0001252	Hypotonia	4/6	OMIM:616260
54941	RNF125	HP:0001249	Intellectual disability	5/6	OMIM:616260
54941	RNF125	HP:0001263	Global developmental delay	-	OMIM:616260
54941	RNF125	HP:0001382	Joint hypermobility	1/6	OMIM:616260
54941	RNF125	HP:0000006	Autosomal dominant inheritance	-	OMIM:616260
54941	RNF125	HP:0002650	Scoliosis	1/6	OMIM:616260
54941	RNF125	HP:0000158	Macroglossia	2/6	OMIM:616260
54941	RNF125	HP:0000154	Wide mouth	1/6	OMIM:616260
54941	RNF125	HP:0002020	Gastroesophageal reflux	1/6	OMIM:616260
54941	RNF125	HP:0002003	Large forehead	2/6	OMIM:616260
54941	RNF125	HP:0002120	Cerebral cortical atrophy	2/4	OMIM:616260
54941	RNF125	HP:0002119	Ventriculomegaly	2/4	OMIM:616260
54941	RNF125	HP:0002104	Apnea	1/6	OMIM:616260
54941	RNF125	HP:0002389	Cavum septum pellucidum	1/4	OMIM:616260
54941	RNF125	HP:0001097	Keratoconjunctivitis sicca	1/6	OMIM:616260
54941	RNF125	HP:0003623	Neonatal onset	5/5	OMIM:616260
54941	RNF125	HP:0002312	Clumsiness	1/6	OMIM:616260
54941	RNF125	HP:0001943	Hypoglycemia	3/4	OMIM:616260
54941	RNF125	HP:0000805	Enuresis	1/6	OMIM:616260
54941	RNF125	HP:0100021	Cerebral palsy	1/6	OMIM:616260
54941	RNF125	HP:0000739	Anxiety	1/6	OMIM:616260
54941	RNF125	HP:0000750	Delayed speech and language development	1/6	OMIM:616260
54941	RNF125	HP:0000712	Emotional lability	1/6	OMIM:616260
54941	RNF125	HP:0030880	Raynaud phenomenon	2/6	OMIM:616260
54941	RNF125	HP:0040216	Hypoinsulinemia	1/6	OMIM:616260
54941	RNF125	HP:0000998	Hypertrichosis	1/6	OMIM:616260
54941	RNF125	HP:0000938	Osteopenia	1/6	OMIM:616260
54941	RNF125	HP:0000256	Macrocephaly	6/6	OMIM:616260
54941	RNF125	HP:0000270	Delayed cranial suture closure	1/6	OMIM:616260
54941	RNF125	HP:0000238	Hydrocephalus	1/4	OMIM:616260
54941	RNF125	HP:0001528	Hemihypertrophy	1/6	OMIM:616260
54941	RNF125	HP:0006532	Recurrent pneumonia	1/6	OMIM:616260
54941	RNF125	HP:0000303	Mandibular prognathia	1/6	OMIM:616260
54941	RNF125	HP:0000463	Anteverted nares	1/6	OMIM:616260
54941	RNF125	HP:0011107	Recurrent aphthous stomatitis	1/6	OMIM:616260
54941	RNF125	HP:0000445	Wide nose	1/6	OMIM:616260
54941	RNF125	HP:0000506	Telecanthus	1/6	OMIM:616260
54941	RNF125	HP:0000574	Thick eyebrow	-	OMIM:616260
54949	SDHAF2	HP:0008629	Pulsatile tinnitus	-	OMIM:601650
54949	SDHAF2	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0025269	Panic attack	HP:0040283	ORPHA:29072
54949	SDHAF2	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:29072
54949	SDHAF2	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0000093	Proteinuria	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0002664	Neoplasm	-	OMIM:601650
54949	SDHAF2	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0002668	Paraganglioma	HP:0040281	ORPHA:29072
54949	SDHAF2	HP:0001337	Tremor	HP:0040283	ORPHA:29072
54949	SDHAF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:601650
54949	SDHAF2	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0031284	Flushing	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0002018	Nausea	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0003581	Adult onset	-	OMIM:601650
54949	SDHAF2	HP:0003528	Elevated circulating calcitonin concentration	HP:0040283	ORPHA:29072
54949	SDHAF2	HP:0009711	Retinal capillary hemangioma	HP:0040283	ORPHA:29072
54949	SDHAF2	HP:0100749	Chest pain	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0006824	Cranial nerve paralysis	-	OMIM:601650
54949	SDHAF2	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:29072
54949	SDHAF2	HP:0001962	Palpitations	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0003001	Glomus jugular tumor	-	OMIM:601650
54949	SDHAF2	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0000790	Hematuria	HP:0040283	ORPHA:29072
54949	SDHAF2	HP:0000980	Pallor	HP:0040283	ORPHA:29072
54949	SDHAF2	HP:0030074	Chemodectoma	-	OMIM:601650
54949	SDHAF2	HP:0012222	Arachnoid hemangiomatosis	HP:0040283	ORPHA:29072
54949	SDHAF2	HP:0002886	Vagal paraganglioma	-	OMIM:601650
54949	SDHAF2	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0012378	Fatigue	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0001609	Hoarse voice	-	OMIM:601650
54949	SDHAF2	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:29072
54949	SDHAF2	HP:0001605	Vocal cord paralysis	-	OMIM:601650
54949	SDHAF2	HP:0001618	Dysphonia	HP:0040282	ORPHA:29072
54949	SDHAF2	HP:0001686	Loss of voice	-	OMIM:601650
54949	SDHAF2	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:29072
54949	SDHAF2	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:29072
54949	SDHAF2	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:29072
54949	SDHAF2	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:29072
54949	SDHAF2	HP:0006715	Glomus tympanicum paraganglioma	-	OMIM:601650
54949	SDHAF2	HP:0000526	Aniridia	HP:0040284	ORPHA:29072
54949	SDHAF2	HP:0001824	Weight loss	HP:0040282	ORPHA:29072
54967	CT55	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
54967	CT55	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
54967	CT55	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
54967	CT55	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
54967	CT55	HP:0001417	X-linked inheritance	-	OMIM:301106
54967	CT55	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
54967	CT55	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
54967	CT55	HP:0034795	Excess residual spermatozoal cytoplasm	2/2	OMIM:301106
54967	CT55	HP:0011462	Young adult onset	2/2	OMIM:301106
54967	CT55	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
54967	CT55	HP:0003251	Male infertility	2/2	OMIM:301106
54967	CT55	HP:0034309	Multiflagellar spermatozoa	2/2	OMIM:301106
54967	CT55	HP:0012207	Reduced sperm motility	2/2	OMIM:301106
54967	CT55	HP:0012205	Globozoospermia	2/2	OMIM:301106
54968	TMEM70	HP:0001298	Encephalopathy	-	OMIM:614052
54968	TMEM70	HP:0001290	Generalized hypotonia	-	OMIM:614052
54968	TMEM70	HP:0001271	Polyneuropathy	1/25	OMIM:614052
54968	TMEM70	HP:0001250	Seizure	HP:0040283	ORPHA:1194
54968	TMEM70	HP:0001250	Seizure	HP:0040283	OMIM:614052
54968	TMEM70	HP:0001252	Hypotonia	HP:0040281	ORPHA:1194
54968	TMEM70	HP:0001252	Hypotonia	19/25	OMIM:614052
54968	TMEM70	HP:0001251	Ataxia	-	OMIM:614052
54968	TMEM70	HP:0002578	Gastroparesis	-	OMIM:614052
54968	TMEM70	HP:0001263	Global developmental delay	30/30	OMIM:614052
54968	TMEM70	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040282	ORPHA:1194
54968	TMEM70	HP:0003819	Death in childhood	4/25	OMIM:614052
54968	TMEM70	HP:0003811	Neonatal death	8/25	OMIM:614052
54968	TMEM70	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:1194
54968	TMEM70	HP:0001371	Flexion contracture	HP:0040282	ORPHA:1194
54968	TMEM70	HP:0000047	Hypospadias	7/13	OMIM:614052
54968	TMEM70	HP:0000047	Hypospadias	HP:0040282	ORPHA:1194
54968	TMEM70	HP:0000023	Inguinal hernia	-	OMIM:614052
54968	TMEM70	HP:0000028	Cryptorchidism	-	OMIM:614052
54968	TMEM70	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1194
54968	TMEM70	HP:0000007	Autosomal recessive inheritance	-	OMIM:614052
54968	TMEM70	HP:0001337	Tremor	-	OMIM:614052
54968	TMEM70	HP:0000154	Wide mouth	HP:0040282	ORPHA:1194
54968	TMEM70	HP:0003348	Hyperalaninemia	-	OMIM:614052
54968	TMEM70	HP:0002080	Intention tremor	-	OMIM:614052
54968	TMEM70	HP:0002093	Respiratory insufficiency	-	OMIM:614052
54968	TMEM70	HP:0002151	Increased circulating lactate concentration	-	OMIM:614052
54968	TMEM70	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:1194
54968	TMEM70	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	25/25	OMIM:614052
54968	TMEM70	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:1194
54968	TMEM70	HP:0003577	Congenital onset	35/35	OMIM:614052
54968	TMEM70	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:1194
54968	TMEM70	HP:0003535	3-Methylglutaconic aciduria	20/25	OMIM:614052
54968	TMEM70	HP:0003535	3-Methylglutaconic aciduria	HP:0040281	ORPHA:1194
54968	TMEM70	HP:0002383	Infectious encephalitis	HP:0040281	ORPHA:1194
54968	TMEM70	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:1194
54968	TMEM70	HP:0002352	Leukoencephalopathy	-	OMIM:614052
54968	TMEM70	HP:0011343	Moderate global developmental delay	HP:0040281	ORPHA:1194
54968	TMEM70	HP:0001987	Hyperammonemia	HP:0040281	ORPHA:1194
54968	TMEM70	HP:0001987	Hyperammonemia	-	OMIM:614052
54968	TMEM70	HP:0003128	Lactic acidosis	25/25	OMIM:614052
54968	TMEM70	HP:0000822	Hypertension	-	OMIM:614052
54968	TMEM70	HP:0011675	Arrhythmia	HP:0040283	ORPHA:1194
54968	TMEM70	HP:0011675	Arrhythmia	-	OMIM:614052
54968	TMEM70	HP:0000278	Retrognathia	HP:0040282	ORPHA:1194
54968	TMEM70	HP:0000252	Microcephaly	HP:0040281	ORPHA:1194
54968	TMEM70	HP:0002878	Respiratory failure	HP:0040282	ORPHA:1194
54968	TMEM70	HP:0001562	Oligohydramnios	HP:0040281	ORPHA:1194
54968	TMEM70	HP:0001562	Oligohydramnios	-	OMIM:614052
54968	TMEM70	HP:0001522	Death in infancy	HP:0040282	ORPHA:1194
54968	TMEM70	HP:0001537	Umbilical hernia	-	OMIM:614052
54968	TMEM70	HP:0001508	Failure to thrive	-	OMIM:614052
54968	TMEM70	HP:0001518	Small for gestational age	-	OMIM:614052
54968	TMEM70	HP:0001511	Intrauterine growth retardation	-	OMIM:614052
54968	TMEM70	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1194
54968	TMEM70	HP:0001510	Growth delay	10/25	OMIM:614052
54968	TMEM70	HP:0001510	Growth delay	HP:0040282	ORPHA:1194
54968	TMEM70	HP:0012368	Flat face	-	OMIM:614052
54968	TMEM70	HP:0000369	Low-set ears	-	OMIM:614052
54968	TMEM70	HP:0000369	Low-set ears	HP:0040281	ORPHA:1194
54968	TMEM70	HP:0000343	Long philtrum	-	OMIM:614052
54968	TMEM70	HP:0001646	Abnormal aortic valve morphology	HP:0040282	ORPHA:1194
54968	TMEM70	HP:0000322	Short philtrum	HP:0040281	ORPHA:1194
54968	TMEM70	HP:0001622	Premature birth	-	OMIM:614052
54968	TMEM70	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:1194
54968	TMEM70	HP:0000308	Microretrognathia	-	OMIM:614052
54968	TMEM70	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:1194
54968	TMEM70	HP:0001639	Hypertrophic cardiomyopathy	22/25	OMIM:614052
54968	TMEM70	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:1194
54968	TMEM70	HP:0000463	Anteverted nares	-	OMIM:614052
54968	TMEM70	HP:0000431	Wide nasal bridge	-	OMIM:614052
54968	TMEM70	HP:0005469	Flat occiput	-	OMIM:614052
54968	TMEM70	HP:0000518	Cataract	HP:0040283	OMIM:614052
54970	TTC12	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
54970	TTC12	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
54970	TTC12	HP:0001217	Clubbing	HP:0040283	ORPHA:244
54970	TTC12	HP:0000007	Autosomal recessive inheritance	-	OMIM:618801
54970	TTC12	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
54970	TTC12	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
54970	TTC12	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
54970	TTC12	HP:0031245	Productive cough	HP:0040282	ORPHA:244
54970	TTC12	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
54970	TTC12	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
54970	TTC12	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
54970	TTC12	HP:0002110	Bronchiectasis	2/4	OMIM:618801
54970	TTC12	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
54970	TTC12	HP:0008222	Female infertility	HP:0040283	ORPHA:244
54970	TTC12	HP:0002257	Chronic rhinitis	-	OMIM:618801
54970	TTC12	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
54970	TTC12	HP:0002205	Recurrent respiratory infections	-	OMIM:618801
54970	TTC12	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
54970	TTC12	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
54970	TTC12	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
54970	TTC12	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
54970	TTC12	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
54970	TTC12	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
54970	TTC12	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
54970	TTC12	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
54970	TTC12	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
54970	TTC12	HP:0030828	Wheezing	HP:0040283	ORPHA:244
54970	TTC12	HP:0003251	Male infertility	2/2	OMIM:618801
54970	TTC12	HP:0003251	Male infertility	HP:0040282	ORPHA:244
54970	TTC12	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
54970	TTC12	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
54970	TTC12	HP:0012259	Absent inner and outer dynein arms	-	OMIM:618801
54970	TTC12	HP:0012263	Immotile cilia	-	OMIM:618801
54970	TTC12	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
54970	TTC12	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
54970	TTC12	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
54970	TTC12	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
54970	TTC12	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
54970	TTC12	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
54970	TTC12	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
54970	TTC12	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
54970	TTC12	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
54970	TTC12	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
54970	TTC12	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
54970	TTC12	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
54970	TTC12	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
54970	TTC12	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
54970	TTC12	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
54970	TTC12	HP:0001746	Asplenia	HP:0040284	ORPHA:244
54970	TTC12	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
54970	TTC12	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
54970	TTC12	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
54970	TTC12	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
54970	TTC12	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
54973	INTS11	HP:0010864	Intellectual disability, severe	13/13	OMIM:620428
54973	INTS11	HP:0009879	Simplified gyral pattern	2/2	OMIM:620428
54973	INTS11	HP:0001272	Cerebellar atrophy	4/4	OMIM:620428
54973	INTS11	HP:0001274	Agenesis of corpus callosum	1/1	OMIM:620428
54973	INTS11	HP:0001270	Motor delay	15/15	OMIM:620428
54973	INTS11	HP:0001256	Intellectual disability, mild	2/2	OMIM:620428
54973	INTS11	HP:0001250	Seizure	4/4	OMIM:620428
54973	INTS11	HP:0001252	Hypotonia	10/10	OMIM:620428
54973	INTS11	HP:0001363	Craniosynostosis	1/1	OMIM:620428
54973	INTS11	HP:0000007	Autosomal recessive inheritance	-	OMIM:620428
54973	INTS11	HP:0001321	Cerebellar hypoplasia	3/3	OMIM:620428
54973	INTS11	HP:0000189	Narrow palate	1/1	OMIM:620428
54973	INTS11	HP:0000193	Bifid uvula	1/1	OMIM:620428
54973	INTS11	HP:0000154	Wide mouth	2/2	OMIM:620428
54973	INTS11	HP:0002059	Cerebral atrophy	3/3	OMIM:620428
54973	INTS11	HP:0002057	Prominent glabella	1/1	OMIM:620428
54973	INTS11	HP:0002119	Ventriculomegaly	1/1	OMIM:620428
54973	INTS11	HP:0002188	Delayed CNS myelination	1/1	OMIM:620428
54973	INTS11	HP:0002198	Dilated fourth ventricle	1/1	OMIM:620428
54973	INTS11	HP:0003593	Infantile onset	2/14	OMIM:620428
54973	INTS11	HP:0002352	Leukoencephalopathy	1/1	OMIM:620428
54973	INTS11	HP:0009800	Maternal diabetes	2/2	OMIM:620428
54973	INTS11	HP:0003623	Neonatal onset	8/14	OMIM:620428
54973	INTS11	HP:0006879	Pontocerebellar atrophy	2/2	OMIM:620428
54973	INTS11	HP:0000648	Optic atrophy	5/5	OMIM:620428
54973	INTS11	HP:0011344	Severe global developmental delay	15/15	OMIM:620428
54973	INTS11	HP:0000750	Delayed speech and language development	15/15	OMIM:620428
54973	INTS11	HP:0011463	Childhood onset	4/14	OMIM:620428
54973	INTS11	HP:0030890	Hyperintensity of cerebral white matter on MRI	1/1	OMIM:620428
54973	INTS11	HP:0000286	Epicanthus	1/1	OMIM:620428
54973	INTS11	HP:0000280	Coarse facial features	4/4	OMIM:620428
54973	INTS11	HP:0000278	Retrognathia	1/1	OMIM:620428
54973	INTS11	HP:0000252	Microcephaly	10/10	OMIM:620428
54973	INTS11	HP:0000219	Thin upper lip vermilion	1/1	OMIM:620428
54973	INTS11	HP:0001511	Intrauterine growth retardation	5/5	OMIM:620428
54973	INTS11	HP:0000369	Low-set ears	1/1	OMIM:620428
54973	INTS11	HP:0000340	Sloping forehead	1/1	OMIM:620428
54973	INTS11	HP:0000350	Small forehead	1/1	OMIM:620428
54973	INTS11	HP:0000316	Hypertelorism	2/2	OMIM:620428
54973	INTS11	HP:0000325	Triangular face	2/2	OMIM:620428
54973	INTS11	HP:0001622	Premature birth	1/1	OMIM:620428
54973	INTS11	HP:0000483	Astigmatism	1/1	OMIM:620428
54973	INTS11	HP:0000486	Strabismus	1/1	OMIM:620428
54973	INTS11	HP:0012444	Brain atrophy	1/1	OMIM:620428
54973	INTS11	HP:0000445	Wide nose	3/3	OMIM:620428
54973	INTS11	HP:0000556	Retinal dystrophy	2/2	OMIM:620428
54973	INTS11	HP:0000545	Myopia	2/2	OMIM:620428
54974	THG1L	HP:0007256	Abnormal pyramidal sign	4/5	OMIM:618800
54974	THG1L	HP:0001270	Motor delay	5/5	OMIM:618800
54974	THG1L	HP:0001256	Intellectual disability, mild	-	OMIM:618800
54974	THG1L	HP:0001260	Dysarthria	5/5	OMIM:618800
54974	THG1L	HP:0000007	Autosomal recessive inheritance	-	OMIM:618800
54974	THG1L	HP:0001320	Cerebellar vermis hypoplasia	5/6	OMIM:618800
54974	THG1L	HP:0002066	Gait ataxia	-	OMIM:618800
54974	THG1L	HP:0007010	Poor fine motor coordination	-	OMIM:618800
54974	THG1L	HP:0000648	Optic atrophy	1/3	OMIM:618800
54974	THG1L	HP:0004322	Short stature	-	OMIM:618800
54974	THG1L	HP:0007772	Impaired smooth pursuit	-	OMIM:618800
54974	THG1L	HP:0030147	Truncal titubation	1/6	OMIM:618800
54974	THG1L	HP:0007979	Gaze-evoked horizontal nystagmus	-	OMIM:618800
54974	THG1L	HP:0000486	Strabismus	1/3	OMIM:618800
54974	THG1L	HP:0000545	Myopia	-	OMIM:618800
54977	SLC25A38	HP:0032231	Hypochromia	-	OMIM:205950
54977	SLC25A38	HP:0000007	Autosomal recessive inheritance	-	OMIM:205950
54977	SLC25A38	HP:0003593	Infantile onset	-	OMIM:205950
54977	SLC25A38	HP:0025066	Decreased mean corpuscular volume	11/18	OMIM:205950
54977	SLC25A38	HP:0001924	Sideroblastic anemia	-	OMIM:205950
54977	SLC25A38	HP:0001903	Anemia	-	OMIM:205950
54977	SLC25A38	HP:0003281	Increased circulating ferritin concentration	14/14	OMIM:205950
54977	SLC25A38	HP:0012463	Elevated transferrin saturation	9/9	OMIM:205950
54982	CLN6	HP:0001268	Mental deterioration	14/14	OMIM:204300
54982	CLN6	HP:0001250	Seizure	-	OMIM:601780
54982	CLN6	HP:0001251	Ataxia	7/11	OMIM:204300
54982	CLN6	HP:0008765	Auditory hallucination	-	OMIM:204300
54982	CLN6	HP:0007359	Focal-onset seizure	2/14	OMIM:204300
54982	CLN6	HP:0000007	Autosomal recessive inheritance	-	OMIM:204300
54982	CLN6	HP:0000007	Autosomal recessive inheritance	-	OMIM:601780
54982	CLN6	HP:0001336	Myoclonus	8/14	OMIM:204300
54982	CLN6	HP:0001311	Abnormal nervous system electrophysiology	-	OMIM:601780
54982	CLN6	HP:0002069	Bilateral tonic-clonic seizure	8/14	OMIM:204300
54982	CLN6	HP:0002074	Increased neuronal autofluorescent lipopigment	-	OMIM:204300
54982	CLN6	HP:0002074	Increased neuronal autofluorescent lipopigment	-	OMIM:601780
54982	CLN6	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:204300
54982	CLN6	HP:0002059	Cerebral atrophy	-	OMIM:204300
54982	CLN6	HP:0003596	Middle age onset	3/14	OMIM:204300
54982	CLN6	HP:0003584	Late onset	1/14	OMIM:204300
54982	CLN6	HP:0003581	Adult onset	-	OMIM:204300
54982	CLN6	HP:0002367	Visual hallucination	-	OMIM:204300
54982	CLN6	HP:0002352	Leukoencephalopathy	-	OMIM:204300
54982	CLN6	HP:0002333	Motor deterioration	-	OMIM:601780
54982	CLN6	HP:0003657	Vascular granular osmiophilic material deposition	-	OMIM:204300
54982	CLN6	HP:0000716	Depression	-	OMIM:204300
54982	CLN6	HP:0000726	Dementia	9/14	OMIM:204300
54982	CLN6	HP:0011462	Young adult onset	10/14	OMIM:204300
54982	CLN6	HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	-	OMIM:204300
54982	CLN6	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	-	OMIM:204300
54982	CLN6	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	-	OMIM:601780
54982	CLN6	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	-	OMIM:204300
54982	CLN6	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	-	OMIM:601780
54982	CLN6	HP:0031475	Status epilepticus without prominent motor symptoms	1/14	OMIM:204300
54982	CLN6	HP:0000529	Progressive visual loss	-	OMIM:601780
54982	CLN6	HP:0000546	Retinal degeneration	-	OMIM:601780
55005	RMND1	HP:0002490	Increased CSF lactate	-	OMIM:614922
55005	RMND1	HP:0001290	Generalized hypotonia	4/5	OMIM:614922
55005	RMND1	HP:0001284	Areflexia	1/5	OMIM:614922
55005	RMND1	HP:0001254	Lethargy	2/5	OMIM:614922
55005	RMND1	HP:0001250	Seizure	-	OMIM:614922
55005	RMND1	HP:0001265	Hyporeflexia	2/5	OMIM:614922
55005	RMND1	HP:0001263	Global developmental delay	-	OMIM:614922
55005	RMND1	HP:0003826	Stillbirth	1/5	OMIM:614922
55005	RMND1	HP:0003819	Death in childhood	1/5	OMIM:614922
55005	RMND1	HP:0003811	Neonatal death	1/5	OMIM:614922
55005	RMND1	HP:0000089	Renal hypoplasia	-	OMIM:614922
55005	RMND1	HP:0000083	Renal insufficiency	5/5	OMIM:614922
55005	RMND1	HP:0001397	Hepatic steatosis	-	OMIM:614922
55005	RMND1	HP:0001344	Absent speech	-	OMIM:614922
55005	RMND1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614922
55005	RMND1	HP:0001336	Myoclonus	HP:0040283	OMIM:614922
55005	RMND1	HP:0001308	Tongue fasciculations	2/5	OMIM:614922
55005	RMND1	HP:0001302	Pachygyria	-	OMIM:614922
55005	RMND1	HP:0000110	Renal dysplasia	-	OMIM:614922
55005	RMND1	HP:0000107	Renal cyst	-	OMIM:614922
55005	RMND1	HP:0001410	Decreased liver function	-	OMIM:614922
55005	RMND1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:614922
55005	RMND1	HP:0002151	Increased circulating lactate concentration	4/4	OMIM:614922
55005	RMND1	HP:0002120	Cerebral cortical atrophy	-	OMIM:614922
55005	RMND1	HP:0003429	CNS hypomyelination	-	OMIM:614922
55005	RMND1	HP:0003577	Congenital onset	5/5	OMIM:614922
55005	RMND1	HP:0002240	Hepatomegaly	HP:0040283	OMIM:614922
55005	RMND1	HP:0011968	Feeding difficulties	-	OMIM:614922
55005	RMND1	HP:0009830	Peripheral neuropathy	HP:0040283	OMIM:614922
55005	RMND1	HP:0006829	Severe muscular hypotonia	-	OMIM:614922
55005	RMND1	HP:0001947	Renal tubular acidosis	-	OMIM:614922
55005	RMND1	HP:0003198	Myopathy	-	OMIM:614922
55005	RMND1	HP:0003128	Lactic acidosis	4/4	OMIM:614922
55005	RMND1	HP:0002878	Respiratory failure	5/5	OMIM:614922
55005	RMND1	HP:0001561	Polyhydramnios	2/5	OMIM:614922
55005	RMND1	HP:0001522	Death in infancy	12/15	OMIM:614922
55005	RMND1	HP:0000365	Hearing impairment	-	OMIM:614922
55005	RMND1	HP:0001638	Cardiomyopathy	HP:0040283	OMIM:614922
55005	RMND1	HP:0012448	Delayed myelination	-	OMIM:614922
55012	PPP2R3C	HP:0001169	Broad palm	-	OMIM:618419
55012	PPP2R3C	HP:0001274	Agenesis of corpus callosum	1/4	OMIM:618419
55012	PPP2R3C	HP:0002553	Highly arched eyebrow	4/4	OMIM:618419
55012	PPP2R3C	HP:0000060	Clitoral hypoplasia	4/4	OMIM:618419
55012	PPP2R3C	HP:0000059	Hypoplastic labia majora	4/4	OMIM:618419
55012	PPP2R3C	HP:0001377	Limited elbow extension	4/4	OMIM:618419
55012	PPP2R3C	HP:0001385	Hip dysplasia	1/4	OMIM:618419
55012	PPP2R3C	HP:0000013	Hypoplasia of the uterus	4/4	OMIM:618419
55012	PPP2R3C	HP:0000007	Autosomal recessive inheritance	-	OMIM:618419
55012	PPP2R3C	HP:0000006	Autosomal dominant inheritance	-	OMIM:618420
55012	PPP2R3C	HP:0002650	Scoliosis	1/4	OMIM:618419
55012	PPP2R3C	HP:0000122	Unilateral renal agenesis	2/4	OMIM:618419
55012	PPP2R3C	HP:0000133	Gonadal dysgenesis	4/4	OMIM:618419
55012	PPP2R3C	HP:0002750	Delayed skeletal maturation	4/4	OMIM:618419
55012	PPP2R3C	HP:0002023	Anal atresia	1/4	OMIM:618419
55012	PPP2R3C	HP:0002021	Pyloric stenosis	1/4	OMIM:618419
55012	PPP2R3C	HP:0009611	Bifid distal phalanx of the thumb	1/4	OMIM:618419
55012	PPP2R3C	HP:0010554	Cutaneous finger syndactyly	4/4	OMIM:618419
55012	PPP2R3C	HP:0008232	Elevated circulating follicle stimulating hormone level	-	OMIM:618419
55012	PPP2R3C	HP:0003577	Congenital onset	4/4	OMIM:618419
55012	PPP2R3C	HP:0002236	Frontal upsweep of hair	4/4	OMIM:618419
55012	PPP2R3C	HP:0002221	Absent axillary hair	1/4	OMIM:618419
55012	PPP2R3C	HP:0002225	Sparse pubic hair	1/4	OMIM:618419
55012	PPP2R3C	HP:0011969	Elevated circulating luteinizing hormone level	-	OMIM:618419
55012	PPP2R3C	HP:0004279	Short palm	4/4	OMIM:618419
55012	PPP2R3C	HP:0000668	Hypodontia	4/4	OMIM:618419
55012	PPP2R3C	HP:0004322	Short stature	1/4	OMIM:618419
55012	PPP2R3C	HP:0011462	Young adult onset	4/4	OMIM:618420
55012	PPP2R3C	HP:0012864	Abnormal sperm morphology	3/3	OMIM:618420
55012	PPP2R3C	HP:0045075	Sparse eyebrow	4/4	OMIM:618419
55012	PPP2R3C	HP:0003251	Male infertility	4/4	OMIM:618420
55012	PPP2R3C	HP:0000958	Dry skin	4/4	OMIM:618419
55012	PPP2R3C	HP:0000954	Single transverse palmar crease	4/4	OMIM:618419
55012	PPP2R3C	HP:0040189	Scaling skin	4/4	OMIM:618419
55012	PPP2R3C	HP:0000286	Epicanthus	4/4	OMIM:618419
55012	PPP2R3C	HP:0000233	Thin vermilion border	4/4	OMIM:618419
55012	PPP2R3C	HP:0001540	Diastasis recti	1/4	OMIM:618419
55012	PPP2R3C	HP:0001539	Omphalocele	2/4	OMIM:618419
55012	PPP2R3C	HP:0001518	Small for gestational age	2/4	OMIM:618419
55012	PPP2R3C	HP:0012368	Flat face	4/4	OMIM:618419
55012	PPP2R3C	HP:0000396	Overfolded helix	4/4	OMIM:618419
55012	PPP2R3C	HP:0007892	Hypoplasia of the lacrimal punctum	4/4	OMIM:618419
55012	PPP2R3C	HP:0000358	Posteriorly rotated ears	4/4	OMIM:618419
55012	PPP2R3C	HP:0000369	Low-set ears	4/4	OMIM:618419
55012	PPP2R3C	HP:0000341	Narrow forehead	2/4	OMIM:618419
55012	PPP2R3C	HP:0000343	Long philtrum	4/4	OMIM:618419
55012	PPP2R3C	HP:0000319	Smooth philtrum	4/4	OMIM:618419
55012	PPP2R3C	HP:0000407	Sensorineural hearing impairment	2/3	OMIM:618419
55012	PPP2R3C	HP:0000444	Convex nasal ridge	4/4	OMIM:618419
55012	PPP2R3C	HP:0001747	Accessory spleen	1/4	OMIM:618419
55012	PPP2R3C	HP:0000430	Underdeveloped nasal alae	4/4	OMIM:618419
55012	PPP2R3C	HP:0000510	Rod-cone dystrophy	4/4	OMIM:618419
55012	PPP2R3C	HP:0001853	Bifid distal phalanx of toe	1/4	OMIM:618419
55023	PHIP	HP:0001182	Tapered finger	HP:0040282	ORPHA:589905
55023	PHIP	HP:0001182	Tapered finger	-	OMIM:617991
55023	PHIP	HP:0001288	Gait disturbance	HP:0040283	ORPHA:589905
55023	PHIP	HP:0001250	Seizure	HP:0040283	ORPHA:589905
55023	PHIP	HP:0001252	Hypotonia	HP:0040282	ORPHA:589905
55023	PHIP	HP:0001252	Hypotonia	2/2	OMIM:617991
55023	PHIP	HP:0001249	Intellectual disability	HP:0040281	ORPHA:589905
55023	PHIP	HP:0001249	Intellectual disability	3/3	OMIM:617991
55023	PHIP	HP:0001263	Global developmental delay	3/3	OMIM:617991
55023	PHIP	HP:0008751	Laryngeal cleft	1/3	OMIM:617991
55023	PHIP	HP:0001385	Hip dysplasia	1/3	OMIM:617991
55023	PHIP	HP:0001382	Joint hypermobility	-	OMIM:617991
55023	PHIP	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:589905
55023	PHIP	HP:0000028	Cryptorchidism	-	OMIM:617991
55023	PHIP	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:589905
55023	PHIP	HP:0000006	Autosomal dominant inheritance	-	OMIM:617991
55023	PHIP	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:589905
55023	PHIP	HP:0002788	Recurrent upper respiratory tract infections	HP:0040283	ORPHA:589905
55023	PHIP	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:589905
55023	PHIP	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:589905
55023	PHIP	HP:0002019	Constipation	HP:0040283	ORPHA:589905
55023	PHIP	HP:0004691	2-3 toe syndactyly	HP:0040283	ORPHA:589905
55023	PHIP	HP:0003593	Infantile onset	-	OMIM:617991
55023	PHIP	HP:0100710	Impulsivity	-	OMIM:617991
55023	PHIP	HP:0100710	Impulsivity	HP:0040282	ORPHA:589905
55023	PHIP	HP:0009748	Large earlobe	2/3	OMIM:617991
55023	PHIP	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:589905
55023	PHIP	HP:0007018	Attention deficit hyperactivity disorder	1/2	OMIM:617991
55023	PHIP	HP:0011968	Feeding difficulties	1/3	OMIM:617991
55023	PHIP	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:589905
55023	PHIP	HP:0002378	Hand tremor	HP:0040283	ORPHA:589905
55023	PHIP	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:589905
55023	PHIP	HP:0004209	Clinodactyly of the 5th finger	1/3	OMIM:617991
55023	PHIP	HP:0000639	Nystagmus	-	OMIM:617991
55023	PHIP	HP:0000664	Synophrys	HP:0040282	ORPHA:589905
55023	PHIP	HP:0000664	Synophrys	-	OMIM:617991
55023	PHIP	HP:0004324	Increased body weight	HP:0040282	ORPHA:589905
55023	PHIP	HP:0000739	Anxiety	2/2	OMIM:617991
55023	PHIP	HP:0000718	Aggressive behavior	1/2	OMIM:617991
55023	PHIP	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:589905
55023	PHIP	HP:0003196	Short nose	1/3	OMIM:617991
55023	PHIP	HP:0000957	Cafe-au-lait spot	-	OMIM:617991
55023	PHIP	HP:0000957	Cafe-au-lait spot	HP:0040282	ORPHA:589905
55023	PHIP	HP:0000286	Epicanthus	HP:0040283	ORPHA:589905
55023	PHIP	HP:0000286	Epicanthus	-	OMIM:617991
55023	PHIP	HP:0000218	High palate	-	OMIM:617991
55023	PHIP	HP:0000233	Thin vermilion border	-	OMIM:617991
55023	PHIP	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:589905
55023	PHIP	HP:0001513	Obesity	3/3	OMIM:617991
55023	PHIP	HP:0012378	Fatigue	HP:0040282	ORPHA:589905
55023	PHIP	HP:0007874	Almond-shaped palpebral fissure	HP:0040283	ORPHA:589905
55023	PHIP	HP:0000343	Long philtrum	HP:0040282	ORPHA:589905
55023	PHIP	HP:0000343	Long philtrum	1/3	OMIM:617991
55023	PHIP	HP:0000348	High forehead	HP:0040282	ORPHA:589905
55023	PHIP	HP:0000348	High forehead	-	OMIM:617991
55023	PHIP	HP:0000347	Micrognathia	1/3	OMIM:617991
55023	PHIP	HP:0000316	Hypertelorism	HP:0040282	ORPHA:589905
55023	PHIP	HP:0000316	Hypertelorism	-	OMIM:617991
55023	PHIP	HP:0000311	Round face	1/3	OMIM:617991
55023	PHIP	HP:0000322	Short philtrum	1/3	OMIM:617991
55023	PHIP	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:589905
55023	PHIP	HP:0000400	Macrotia	HP:0040281	ORPHA:589905
55023	PHIP	HP:0000400	Macrotia	-	OMIM:617991
55023	PHIP	HP:0000486	Strabismus	HP:0040283	ORPHA:589905
55023	PHIP	HP:0000486	Strabismus	2/3	OMIM:617991
55023	PHIP	HP:0000490	Deeply set eye	1/3	OMIM:617991
55023	PHIP	HP:0000463	Anteverted nares	HP:0040282	ORPHA:589905
55023	PHIP	HP:0000463	Anteverted nares	-	OMIM:617991
55023	PHIP	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:589905
55023	PHIP	HP:0012420	Meconium stained amniotic fluid	1/3	OMIM:617991
55023	PHIP	HP:0000508	Ptosis	HP:0040283	ORPHA:589905
55023	PHIP	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:589905
55023	PHIP	HP:0000582	Upslanted palpebral fissure	-	OMIM:617991
55023	PHIP	HP:0000574	Thick eyebrow	-	OMIM:617991
55023	PHIP	HP:0000540	Hypermetropia	HP:0040282	ORPHA:589905
55023	PHIP	HP:0000540	Hypermetropia	-	OMIM:617991
55023	PHIP	HP:0000539	Abnormality of refraction	HP:0040282	ORPHA:589905
55024	BANK1	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
55024	BANK1	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
55024	BANK1	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
55024	BANK1	HP:0001250	Seizure	HP:0040283	ORPHA:536
55024	BANK1	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
55024	BANK1	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
55024	BANK1	HP:0001369	Arthritis	HP:0040282	ORPHA:536
55024	BANK1	HP:0033834	Malaise	HP:0040281	ORPHA:536
55024	BANK1	HP:0012085	Pyuria	HP:0040282	ORPHA:536
55024	BANK1	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
55024	BANK1	HP:0025300	Malar rash	HP:0040282	ORPHA:536
55024	BANK1	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
55024	BANK1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
55024	BANK1	HP:0002072	Chorea	HP:0040284	ORPHA:536
55024	BANK1	HP:0002039	Anorexia	HP:0040281	ORPHA:536
55024	BANK1	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
55024	BANK1	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
55024	BANK1	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
55024	BANK1	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
55024	BANK1	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
55024	BANK1	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
55024	BANK1	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
55024	BANK1	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
55024	BANK1	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
55024	BANK1	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
55024	BANK1	HP:0001945	Fever	HP:0040281	ORPHA:536
55024	BANK1	HP:0000716	Depression	HP:0040283	ORPHA:536
55024	BANK1	HP:0000790	Hematuria	HP:0040282	ORPHA:536
55024	BANK1	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
55024	BANK1	HP:0000822	Hypertension	HP:0040282	ORPHA:536
55024	BANK1	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
55024	BANK1	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
55024	BANK1	HP:0045073	Serositis	HP:0040283	ORPHA:536
55024	BANK1	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
55024	BANK1	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
55024	BANK1	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
55024	BANK1	HP:0001596	Alopecia	HP:0040282	ORPHA:536
55024	BANK1	HP:0012378	Fatigue	HP:0040281	ORPHA:536
55024	BANK1	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
55024	BANK1	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
55024	BANK1	HP:0001824	Weight loss	HP:0040281	ORPHA:536
55024	BANK1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
55024	BANK1	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
55024	BANK1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
55027	HEATR3	HP:0001177	Preaxial hand polydactyly	1/6	OMIM:620072
55027	HEATR3	HP:0001182	Tapered finger	2/6	OMIM:620072
55027	HEATR3	HP:0001156	Brachydactyly	4/6	OMIM:620072
55027	HEATR3	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
55027	HEATR3	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
55027	HEATR3	HP:0008551	Microtia	HP:0040284	ORPHA:124
55027	HEATR3	HP:0003764	Nevus	2/6	OMIM:620072
55027	HEATR3	HP:0001254	Lethargy	HP:0040282	ORPHA:124
55027	HEATR3	HP:0001256	Intellectual disability, mild	4/6	OMIM:620072
55027	HEATR3	HP:0001252	Hypotonia	1/6	OMIM:620072
55027	HEATR3	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
55027	HEATR3	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
55027	HEATR3	HP:0001385	Hip dysplasia	1/6	OMIM:620072
55027	HEATR3	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
55027	HEATR3	HP:0000007	Autosomal recessive inheritance	-	OMIM:620072
55027	HEATR3	HP:0002669	Osteosarcoma	1/6	OMIM:620072
55027	HEATR3	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
55027	HEATR3	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
55027	HEATR3	HP:0000160	Narrow mouth	1/6	OMIM:620072
55027	HEATR3	HP:0012133	Erythroid hypoplasia	2/2	OMIM:620072
55027	HEATR3	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
55027	HEATR3	HP:0007687	Unilateral ptosis	1/6	OMIM:620072
55027	HEATR3	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
55027	HEATR3	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
55027	HEATR3	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
55027	HEATR3	HP:0002028	Chronic diarrhea	1/6	OMIM:620072
55027	HEATR3	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
55027	HEATR3	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
55027	HEATR3	HP:0002208	Coarse hair	1/6	OMIM:620072
55027	HEATR3	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
55027	HEATR3	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
55027	HEATR3	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
55027	HEATR3	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
55027	HEATR3	HP:0009778	Short thumb	HP:0040283	ORPHA:124
55027	HEATR3	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
55027	HEATR3	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
55027	HEATR3	HP:0001903	Anemia	6/6	OMIM:620072
55027	HEATR3	HP:0000664	Synophrys	2/6	OMIM:620072
55027	HEATR3	HP:0004322	Short stature	3/6	OMIM:620072
55027	HEATR3	HP:0004322	Short stature	HP:0040283	ORPHA:124
55027	HEATR3	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
55027	HEATR3	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
55027	HEATR3	HP:0040023	Clinodactyly of the thumb	1/6	OMIM:620072
55027	HEATR3	HP:0000980	Pallor	HP:0040282	ORPHA:124
55027	HEATR3	HP:0000965	Cutis marmorata	1/6	OMIM:620072
55027	HEATR3	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
55027	HEATR3	HP:0000293	Full cheeks	1/6	OMIM:620072
55027	HEATR3	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
55027	HEATR3	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
55027	HEATR3	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
55027	HEATR3	HP:0000252	Microcephaly	1/6	OMIM:620072
55027	HEATR3	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
55027	HEATR3	HP:0000218	High palate	HP:0040283	ORPHA:124
55027	HEATR3	HP:0002857	Genu valgum	1/6	OMIM:620072
55027	HEATR3	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
55027	HEATR3	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
55027	HEATR3	HP:0001510	Growth delay	HP:0040282	ORPHA:124
55027	HEATR3	HP:0001513	Obesity	4/6	OMIM:620072
55027	HEATR3	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
55027	HEATR3	HP:0000369	Low-set ears	2/6	OMIM:620072
55027	HEATR3	HP:0001684	Secundum atrial septal defect	1/6	OMIM:620072
55027	HEATR3	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
55027	HEATR3	HP:0000349	Widow's peak	1/6	OMIM:620072
55027	HEATR3	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
55027	HEATR3	HP:0000347	Micrognathia	1/6	OMIM:620072
55027	HEATR3	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
55027	HEATR3	HP:0000316	Hypertelorism	1/6	OMIM:620072
55027	HEATR3	HP:0001659	Aortic regurgitation	1/3	OMIM:620072
55027	HEATR3	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
55027	HEATR3	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
55027	HEATR3	HP:0002967	Cubitus valgus	1/6	OMIM:620072
55027	HEATR3	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
55027	HEATR3	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
55027	HEATR3	HP:0000486	Strabismus	HP:0040284	ORPHA:124
55027	HEATR3	HP:0000494	Downslanted palpebral fissures	2/6	OMIM:620072
55027	HEATR3	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
55027	HEATR3	HP:0000470	Short neck	HP:0040283	ORPHA:124
55027	HEATR3	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
55027	HEATR3	HP:0001763	Pes planus	3/6	OMIM:620072
55027	HEATR3	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
55027	HEATR3	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
55027	HEATR3	HP:0000411	Protruding ear	2/6	OMIM:620072
55027	HEATR3	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
55027	HEATR3	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
55027	HEATR3	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
55027	HEATR3	HP:0001852	Sandal gap	1/6	OMIM:620072
55027	HEATR3	HP:0001822	Hallux valgus	2/6	OMIM:620072
55027	HEATR3	HP:0000508	Ptosis	HP:0040284	ORPHA:124
55027	HEATR3	HP:0001831	Short toe	2/6	OMIM:620072
55027	HEATR3	HP:0011228	Horizontal eyebrow	2/6	OMIM:620072
55027	HEATR3	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
55027	HEATR3	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
55027	HEATR3	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
55027	HEATR3	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
55027	HEATR3	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
55027	HEATR3	HP:0001873	Thrombocytopenia	1/6	OMIM:620072
55027	HEATR3	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
55033	FKBP14	HP:0009901	Crumpled ear	90/119	OMIM:121050
55033	FKBP14	HP:0001181	Adducted thumb	42/90	OMIM:121050
55033	FKBP14	HP:0001166	Arachnodactyly	104/124	OMIM:121050
55033	FKBP14	HP:0001166	Arachnodactyly	124/197	OMIM:154700
55033	FKBP14	HP:0001166	Arachnodactyly	34/37	OMIM:182212
55033	FKBP14	HP:0001166	Arachnodactyly	6/15	OMIM:208050
55033	FKBP14	HP:0002421	Poor head control	7/7	OMIM:614557
55033	FKBP14	HP:0002421	Poor head control	HP:0040281	ORPHA:300179
55033	FKBP14	HP:0003745	Sporadic	-	OMIM:182212
55033	FKBP14	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
55033	FKBP14	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55033	FKBP14	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
55033	FKBP14	HP:0001293	Cranial nerve compression	-	OMIM:131300
55033	FKBP14	HP:0001290	Generalized hypotonia	-	OMIM:208050
55033	FKBP14	HP:0001290	Generalized hypotonia	-	OMIM:182212
55033	FKBP14	HP:0001270	Motor delay	7/7	OMIM:614557
55033	FKBP14	HP:0001270	Motor delay	-	OMIM:121050
55033	FKBP14	HP:0001270	Motor delay	HP:0040281	ORPHA:300179
55033	FKBP14	HP:0001252	Hypotonia	7/7	OMIM:614557
55033	FKBP14	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
55033	FKBP14	HP:0001252	Hypotonia	2/7	OMIM:615777
55033	FKBP14	HP:0001252	Hypotonia	26/37	OMIM:182212
55033	FKBP14	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
55033	FKBP14	HP:0001249	Intellectual disability	5/7	OMIM:615777
55033	FKBP14	HP:0001249	Intellectual disability	-	OMIM:182212
55033	FKBP14	HP:0001263	Global developmental delay	-	OMIM:615777
55033	FKBP14	HP:0001263	Global developmental delay	-	OMIM:182212
55033	FKBP14	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
55033	FKBP14	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
55033	FKBP14	HP:0002515	Waddling gait	1/1	OMIM:614557
55033	FKBP14	HP:0002515	Waddling gait	54/102	OMIM:131300
55033	FKBP14	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
55033	FKBP14	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
55033	FKBP14	HP:0003803	Type 1 muscle fiber predominance	1/1	OMIM:614557
55033	FKBP14	HP:0000098	Tall stature	-	OMIM:154700
55033	FKBP14	HP:0001377	Limited elbow extension	94/109	OMIM:121050
55033	FKBP14	HP:0001377	Limited elbow extension	29/199	OMIM:154700
55033	FKBP14	HP:0001371	Flexion contracture	-	OMIM:208050
55033	FKBP14	HP:0001371	Flexion contracture	-	OMIM:154700
55033	FKBP14	HP:0001382	Joint hypermobility	1/1	OMIM:130050
55033	FKBP14	HP:0001382	Joint hypermobility	12/14	OMIM:208050
55033	FKBP14	HP:0001382	Joint hypermobility	11/53	OMIM:154700
55033	FKBP14	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:300179
55033	FKBP14	HP:0001382	Joint hypermobility	-	OMIM:615777
55033	FKBP14	HP:0001382	Joint hypermobility	31/47	OMIM:182212
55033	FKBP14	HP:0000023	Inguinal hernia	11/11	OMIM:130050
55033	FKBP14	HP:0000023	Inguinal hernia	8/15	OMIM:208050
55033	FKBP14	HP:0000023	Inguinal hernia	1/7	OMIM:614557
55033	FKBP14	HP:0000023	Inguinal hernia	19/34	OMIM:182212
55033	FKBP14	HP:0000015	Bladder diverticulum	2/2	OMIM:614557
55033	FKBP14	HP:0001363	Craniosynostosis	18/37	OMIM:182212
55033	FKBP14	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55033	FKBP14	HP:0000028	Cryptorchidism	1/1	OMIM:130050
55033	FKBP14	HP:0000028	Cryptorchidism	1/13	OMIM:182212
55033	FKBP14	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55033	FKBP14	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
55033	FKBP14	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
55033	FKBP14	HP:0007502	Follicular hyperkeratosis	HP:0040281	ORPHA:300179
55033	FKBP14	HP:0007502	Follicular hyperkeratosis	5/7	OMIM:614557
55033	FKBP14	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
55033	FKBP14	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
55033	FKBP14	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
55033	FKBP14	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55033	FKBP14	HP:0001324	Muscle weakness	40/96	OMIM:131300
55033	FKBP14	HP:0001324	Muscle weakness	7/7	OMIM:614557
55033	FKBP14	HP:0001324	Muscle weakness	HP:0040282	ORPHA:300179
55033	FKBP14	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55033	FKBP14	HP:0000007	Autosomal recessive inheritance	-	OMIM:614557
55033	FKBP14	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
55033	FKBP14	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55033	FKBP14	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
55033	FKBP14	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
55033	FKBP14	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
55033	FKBP14	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55033	FKBP14	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
55033	FKBP14	HP:0002650	Scoliosis	16/53	OMIM:154700
55033	FKBP14	HP:0002650	Scoliosis	11/15	OMIM:121050
55033	FKBP14	HP:0002650	Scoliosis	12/14	OMIM:131300
55033	FKBP14	HP:0002650	Scoliosis	3/15	OMIM:208050
55033	FKBP14	HP:0002650	Scoliosis	23/37	OMIM:182212
55033	FKBP14	HP:0002647	Aortic dissection	1/58	OMIM:154700
55033	FKBP14	HP:0001319	Neonatal hypotonia	1/1	OMIM:614557
55033	FKBP14	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55033	FKBP14	HP:0002619	Varicose veins	-	OMIM:130050
55033	FKBP14	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
55033	FKBP14	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
55033	FKBP14	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
55033	FKBP14	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
55033	FKBP14	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
55033	FKBP14	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55033	FKBP14	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55033	FKBP14	HP:0000189	Narrow palate	-	OMIM:182212
55033	FKBP14	HP:0000189	Narrow palate	-	OMIM:154700
55033	FKBP14	HP:0000185	Cleft soft palate	2/7	OMIM:614557
55033	FKBP14	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55033	FKBP14	HP:0000193	Bifid uvula	0/14	OMIM:208050
55033	FKBP14	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
55033	FKBP14	HP:0012151	Hemothorax	3/4	OMIM:130050
55033	FKBP14	HP:0000175	Cleft palate	2/7	OMIM:615777
55033	FKBP14	HP:0000139	Uterine prolapse	-	OMIM:130050
55033	FKBP14	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
55033	FKBP14	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
55033	FKBP14	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
55033	FKBP14	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
55033	FKBP14	HP:0002751	Kyphoscoliosis	5/7	OMIM:614557
55033	FKBP14	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
55033	FKBP14	HP:0002751	Kyphoscoliosis	HP:0040281	ORPHA:300179
55033	FKBP14	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
55033	FKBP14	HP:0002036	Hiatus hernia	-	OMIM:208050
55033	FKBP14	HP:0002007	Frontal bossing	-	OMIM:121050
55033	FKBP14	HP:0002007	Frontal bossing	-	OMIM:182212
55033	FKBP14	HP:0003302	Spondylolisthesis	-	OMIM:154700
55033	FKBP14	HP:0002097	Emphysema	8/9	OMIM:130050
55033	FKBP14	HP:0002097	Emphysema	HP:0040283	OMIM:154700
55033	FKBP14	HP:0030961	Microspherophakia	2/53	OMIM:154700
55033	FKBP14	HP:0003388	Easy fatigability	HP:0040282	ORPHA:300179
55033	FKBP14	HP:0003388	Easy fatigability	36/76	OMIM:131300
55033	FKBP14	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
55033	FKBP14	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
55033	FKBP14	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
55033	FKBP14	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55033	FKBP14	HP:0010499	Patellar subluxation	12/22	OMIM:121050
55033	FKBP14	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
55033	FKBP14	HP:0002140	Ischemic stroke	-	OMIM:208050
55033	FKBP14	HP:0003467	Atlantoaxial instability	HP:0040284	OMIM:614557
55033	FKBP14	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
55033	FKBP14	HP:0002107	Pneumothorax	2/2	OMIM:130050
55033	FKBP14	HP:0002107	Pneumothorax	6/53	OMIM:154700
55033	FKBP14	HP:0002105	Hemoptysis	6/10	OMIM:130050
55033	FKBP14	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
55033	FKBP14	HP:0003593	Infantile onset	5/16	OMIM:208050
55033	FKBP14	HP:0003577	Congenital onset	5/5	OMIM:121050
55033	FKBP14	HP:0003577	Congenital onset	12/26	OMIM:208050
55033	FKBP14	HP:0100718	Uterine rupture	-	OMIM:130050
55033	FKBP14	HP:0004872	Incisional hernia	-	OMIM:154700
55033	FKBP14	HP:0100775	Dural ectasia	112/140	OMIM:154700
55033	FKBP14	HP:0100790	Hernia	HP:0040282	ORPHA:300179
55033	FKBP14	HP:0100749	Chest pain	1/2	OMIM:130050
55033	FKBP14	HP:0002293	Alopecia of scalp	-	OMIM:130050
55033	FKBP14	HP:0034671	Knee contracture	7/14	OMIM:121050
55033	FKBP14	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
55033	FKBP14	HP:0010648	Dermal translucency	3/3	OMIM:130050
55033	FKBP14	HP:0430047	Large joint hypermobilty	7/7	OMIM:614557
55033	FKBP14	HP:0430046	Small joint hypermobilty	7/7	OMIM:614557
55033	FKBP14	HP:0011968	Feeding difficulties	1/1	OMIM:614557
55033	FKBP14	HP:0003510	Severe short stature	7/7	OMIM:615777
55033	FKBP14	HP:0007099	Chiari type I malformation	-	OMIM:182212
55033	FKBP14	HP:0025019	Arterial rupture	-	OMIM:130050
55033	FKBP14	HP:0025019	Arterial rupture	HP:0040283	ORPHA:300179
55033	FKBP14	HP:0001065	Striae distensae	11/53	OMIM:154700
55033	FKBP14	HP:0001030	Fragile skin	-	OMIM:130050
55033	FKBP14	HP:0001027	Soft, doughy skin	-	OMIM:208050
55033	FKBP14	HP:0002315	Headache	-	OMIM:131300
55033	FKBP14	HP:0004976	Knee dislocation	6/7	OMIM:615777
55033	FKBP14	HP:0100645	Cystocele	-	OMIM:130050
55033	FKBP14	HP:0001073	Cigarette-paper scars	-	OMIM:130050
55033	FKBP14	HP:0001075	Atrophic scars	0/6	OMIM:614557
55033	FKBP14	HP:0001075	Atrophic scars	HP:0040282	ORPHA:300179
55033	FKBP14	HP:0009803	Short phalanx of finger	-	OMIM:615777
55033	FKBP14	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
55033	FKBP14	HP:0001083	Ectopia lentis	119/251	OMIM:154700
55033	FKBP14	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
55033	FKBP14	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
55033	FKBP14	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
55033	FKBP14	HP:0009763	Limb pain	63/92	OMIM:131300
55033	FKBP14	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
55033	FKBP14	HP:0003623	Neonatal onset	3/16	OMIM:208050
55033	FKBP14	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
55033	FKBP14	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
55033	FKBP14	HP:0003621	Juvenile onset	-	OMIM:131300
55033	FKBP14	HP:0003621	Juvenile onset	2/16	OMIM:208050
55033	FKBP14	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
55033	FKBP14	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
55033	FKBP14	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
55033	FKBP14	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55033	FKBP14	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:300179
55033	FKBP14	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55033	FKBP14	HP:6001056	Out-toeing	-	OMIM:131300
55033	FKBP14	HP:0000651	Diplopia	-	OMIM:131300
55033	FKBP14	HP:0001977	Abnormal thrombosis	-	OMIM:208050
55033	FKBP14	HP:0001956	Truncal obesity	2/7	OMIM:615777
55033	FKBP14	HP:0000601	Hypotelorism	1/1	OMIM:614557
55033	FKBP14	HP:0001903	Anemia	1/1	OMIM:130050
55033	FKBP14	HP:0001903	Anemia	HP:0040283	OMIM:131300
55033	FKBP14	HP:0010049	Short metacarpal	-	OMIM:615777
55033	FKBP14	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
55033	FKBP14	HP:0000678	Dental crowding	8/53	OMIM:154700
55033	FKBP14	HP:0000678	Dental crowding	-	OMIM:615777
55033	FKBP14	HP:0000689	Dental malocclusion	-	OMIM:182212
55033	FKBP14	HP:0000670	Carious teeth	-	OMIM:131300
55033	FKBP14	HP:0011304	Broad thumb	2/7	OMIM:615777
55033	FKBP14	HP:0000668	Hypodontia	-	OMIM:615777
55033	FKBP14	HP:0000664	Synophrys	-	OMIM:615777
55033	FKBP14	HP:0004322	Short stature	-	OMIM:130050
55033	FKBP14	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
55033	FKBP14	HP:0003088	Premature osteoarthritis	-	OMIM:154700
55033	FKBP14	HP:0003083	Dislocated radial head	5/37	OMIM:182212
55033	FKBP14	HP:0003066	Limited knee extension	38/45	OMIM:121050
55033	FKBP14	HP:0004396	Poor appetite	-	OMIM:131300
55033	FKBP14	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55033	FKBP14	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55033	FKBP14	HP:0003042	Elbow dislocation	1/12	OMIM:121050
55033	FKBP14	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
55033	FKBP14	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55033	FKBP14	HP:0003026	Short long bone	7/7	OMIM:615777
55033	FKBP14	HP:0031936	Delayed ability to walk	7/7	OMIM:614557
55033	FKBP14	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55033	FKBP14	HP:0005684	Distal arthrogryposis	-	OMIM:121050
55033	FKBP14	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
55033	FKBP14	HP:0000767	Pectus excavatum	2/14	OMIM:121050
55033	FKBP14	HP:0000767	Pectus excavatum	1/4	OMIM:130050
55033	FKBP14	HP:0000767	Pectus excavatum	3/15	OMIM:208050
55033	FKBP14	HP:0000767	Pectus excavatum	44/146	OMIM:154700
55033	FKBP14	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55033	FKBP14	HP:0000767	Pectus excavatum	-	OMIM:182212
55033	FKBP14	HP:0000768	Pectus carinatum	4/14	OMIM:121050
55033	FKBP14	HP:0000768	Pectus carinatum	2/15	OMIM:208050
55033	FKBP14	HP:0000768	Pectus carinatum	58/146	OMIM:154700
55033	FKBP14	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55033	FKBP14	HP:0000768	Pectus carinatum	-	OMIM:182212
55033	FKBP14	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55033	FKBP14	HP:0000750	Delayed speech and language development	-	OMIM:615777
55033	FKBP14	HP:0000704	Periodontitis	-	OMIM:130050
55033	FKBP14	HP:0011463	Childhood onset	1/16	OMIM:208050
55033	FKBP14	HP:0011462	Young adult onset	3/16	OMIM:208050
55033	FKBP14	HP:0011461	Fetal onset	1/1	OMIM:614557
55033	FKBP14	HP:0011461	Fetal onset	7/7	OMIM:615777
55033	FKBP14	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
55033	FKBP14	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
55033	FKBP14	HP:0000774	Narrow chest	2/7	OMIM:615777
55033	FKBP14	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
55033	FKBP14	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
55033	FKBP14	HP:0030799	Scaphocephaly	-	OMIM:121050
55033	FKBP14	HP:0003198	Myopathy	1/1	OMIM:614557
55033	FKBP14	HP:0003198	Myopathy	HP:0040281	ORPHA:300179
55033	FKBP14	HP:0003199	Decreased muscle mass	-	OMIM:154700
55033	FKBP14	HP:0000926	Platyspondyly	1/7	OMIM:615777
55033	FKBP14	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
55033	FKBP14	HP:0003180	Flat acetabular roof	-	OMIM:615777
55033	FKBP14	HP:0004482	Relative macrocephaly	-	OMIM:615777
55033	FKBP14	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55033	FKBP14	HP:0000883	Thin ribs	-	OMIM:182212
55033	FKBP14	HP:0000822	Hypertension	-	OMIM:208050
55033	FKBP14	HP:0000823	Delayed puberty	-	OMIM:131300
55033	FKBP14	HP:0000895	Lateral clavicle hook	-	OMIM:182212
55033	FKBP14	HP:0000894	Short clavicles	-	OMIM:615777
55033	FKBP14	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:300179
55033	FKBP14	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
55033	FKBP14	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55033	FKBP14	HP:0003202	Skeletal muscle atrophy	-	OMIM:614557
55033	FKBP14	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:300179
55033	FKBP14	HP:0034391	Elbow contracture	10/14	OMIM:121050
55033	FKBP14	HP:0003273	Hip contracture	32/121	OMIM:121050
55033	FKBP14	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
55033	FKBP14	HP:0000978	Bruising susceptibility	3/6	OMIM:614557
55033	FKBP14	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
55033	FKBP14	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:300179
55033	FKBP14	HP:0000978	Bruising susceptibility	-	OMIM:208050
55033	FKBP14	HP:0000977	Soft skin	7/15	OMIM:208050
55033	FKBP14	HP:0000977	Soft skin	6/6	OMIM:614557
55033	FKBP14	HP:0000974	Hyperextensible skin	5/6	OMIM:614557
55033	FKBP14	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
55033	FKBP14	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:300179
55033	FKBP14	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
55033	FKBP14	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
55033	FKBP14	HP:0000973	Cutis laxa	1/1	OMIM:614557
55033	FKBP14	HP:0000973	Cutis laxa	5/14	OMIM:208050
55033	FKBP14	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55033	FKBP14	HP:0000963	Thin skin	4/13	OMIM:208050
55033	FKBP14	HP:0034361	Redundant umbilical skin	1/1	OMIM:614557
55033	FKBP14	HP:0000938	Osteopenia	-	OMIM:121050
55033	FKBP14	HP:0000938	Osteopenia	-	OMIM:614557
55033	FKBP14	HP:0000938	Osteopenia	HP:0040282	ORPHA:300179
55033	FKBP14	HP:0000938	Osteopenia	-	OMIM:182212
55033	FKBP14	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
55033	FKBP14	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
55033	FKBP14	HP:0000286	Epicanthus	1/1	OMIM:614557
55033	FKBP14	HP:0000286	Epicanthus	1/7	OMIM:615777
55033	FKBP14	HP:0025586	Hypertropia	8/573	OMIM:154700
55033	FKBP14	HP:0000280	Coarse facial features	2/7	OMIM:615777
55033	FKBP14	HP:0000278	Retrognathia	-	OMIM:154700
55033	FKBP14	HP:0000260	Wide anterior fontanel	-	OMIM:182212
55033	FKBP14	HP:0000275	Narrow face	-	OMIM:154700
55033	FKBP14	HP:0000276	Long face	14/14	OMIM:208050
55033	FKBP14	HP:0000276	Long face	-	OMIM:154700
55033	FKBP14	HP:0000272	Malar flattening	9/14	OMIM:208050
55033	FKBP14	HP:0000272	Malar flattening	31/53	OMIM:154700
55033	FKBP14	HP:0000268	Dolichocephaly	-	OMIM:121050
55033	FKBP14	HP:0000268	Dolichocephaly	36/53	OMIM:154700
55033	FKBP14	HP:0000268	Dolichocephaly	28/37	OMIM:182212
55033	FKBP14	HP:0005136	Mitral annular calcification	-	OMIM:154700
55033	FKBP14	HP:0002816	Genu recurvatum	-	OMIM:182212
55033	FKBP14	HP:0002816	Genu recurvatum	-	OMIM:154700
55033	FKBP14	HP:0002827	Hip dislocation	3/7	OMIM:615777
55033	FKBP14	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
55033	FKBP14	HP:0000244	Brachyturricephaly	-	OMIM:182212
55033	FKBP14	HP:0000238	Hydrocephalus	13/37	OMIM:182212
55033	FKBP14	HP:0000252	Microcephaly	-	OMIM:615777
55033	FKBP14	HP:0000252	Microcephaly	6/37	OMIM:182212
55033	FKBP14	HP:0000248	Brachycephaly	-	OMIM:121050
55033	FKBP14	HP:0000218	High palate	34/53	OMIM:154700
55033	FKBP14	HP:0000218	High palate	30/102	OMIM:121050
55033	FKBP14	HP:0000218	High palate	5/13	OMIM:208050
55033	FKBP14	HP:0000218	High palate	30/37	OMIM:182212
55033	FKBP14	HP:0001561	Polyhydramnios	1/1	OMIM:614557
55033	FKBP14	HP:0000233	Thin vermilion border	-	OMIM:130050
55033	FKBP14	HP:0030009	Cervical insufficiency	-	OMIM:130050
55033	FKBP14	HP:0001558	Decreased fetal movement	1/1	OMIM:614557
55033	FKBP14	HP:0002857	Genu valgum	-	OMIM:131300
55033	FKBP14	HP:0002857	Genu valgum	4/37	OMIM:182212
55033	FKBP14	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
55033	FKBP14	HP:0001537	Umbilical hernia	-	OMIM:208050
55033	FKBP14	HP:0001537	Umbilical hernia	3/7	OMIM:614557
55033	FKBP14	HP:0001537	Umbilical hernia	13/37	OMIM:182212
55033	FKBP14	HP:0001533	Slender build	-	OMIM:131300
55033	FKBP14	HP:0031364	Ecchymosis	-	OMIM:130050
55033	FKBP14	HP:0001519	Disproportionate tall stature	-	OMIM:121050
55033	FKBP14	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
55033	FKBP14	HP:0001519	Disproportionate tall stature	HP:0040284	ORPHA:300179
55033	FKBP14	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55033	FKBP14	HP:0007807	Optic nerve compression	-	OMIM:131300
55033	FKBP14	HP:0007800	Increased axial length of the globe	-	OMIM:154700
55033	FKBP14	HP:0012385	Camptodactyly	86/110	OMIM:121050
55033	FKBP14	HP:0012385	Camptodactyly	19/53	OMIM:154700
55033	FKBP14	HP:0012385	Camptodactyly	24/37	OMIM:182212
55033	FKBP14	HP:0000387	Absent earlobe	-	OMIM:130050
55033	FKBP14	HP:0012368	Flat face	7/7	OMIM:615777
55033	FKBP14	HP:0012372	Abnormal eye morphology	HP:0040283	ORPHA:300179
55033	FKBP14	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
55033	FKBP14	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
55033	FKBP14	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
55033	FKBP14	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
55033	FKBP14	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55033	FKBP14	HP:0005180	Tricuspid regurgitation	2/5	OMIM:614557
55033	FKBP14	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
55033	FKBP14	HP:0006480	Premature loss of teeth	-	OMIM:130050
55033	FKBP14	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
55033	FKBP14	HP:0000365	Hearing impairment	10/67	OMIM:131300
55033	FKBP14	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
55033	FKBP14	HP:0000369	Low-set ears	32/37	OMIM:182212
55033	FKBP14	HP:0000340	Sloping forehead	1/1	OMIM:614557
55033	FKBP14	HP:0000343	Long philtrum	-	OMIM:208050
55033	FKBP14	HP:0000343	Long philtrum	1/7	OMIM:615777
55033	FKBP14	HP:0011001	Increased bone mineral density	-	OMIM:131300
55033	FKBP14	HP:0002999	Patellar dislocation	2/20	OMIM:121050
55033	FKBP14	HP:0000347	Micrognathia	-	OMIM:154700
55033	FKBP14	HP:0000347	Micrognathia	26/94	OMIM:121050
55033	FKBP14	HP:0000347	Micrognathia	5/14	OMIM:208050
55033	FKBP14	HP:0000347	Micrognathia	33/37	OMIM:182212
55033	FKBP14	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
55033	FKBP14	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
55033	FKBP14	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
55033	FKBP14	HP:0000316	Hypertelorism	6/16	OMIM:208050
55033	FKBP14	HP:0000316	Hypertelorism	28/37	OMIM:182212
55033	FKBP14	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
55033	FKBP14	HP:0001643	Patent ductus arteriosus	1/1	OMIM:614557
55033	FKBP14	HP:0000311	Round face	2/7	OMIM:615777
55033	FKBP14	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
55033	FKBP14	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
55033	FKBP14	HP:0001659	Aortic regurgitation	-	OMIM:208050
55033	FKBP14	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
55033	FKBP14	HP:0001653	Mitral regurgitation	-	OMIM:121050
55033	FKBP14	HP:0001653	Mitral regurgitation	1/5	OMIM:614557
55033	FKBP14	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
55033	FKBP14	HP:0001629	Ventricular septal defect	-	OMIM:121050
55033	FKBP14	HP:0002970	Genu varum	-	OMIM:615777
55033	FKBP14	HP:0001635	Congestive heart failure	-	OMIM:154700
55033	FKBP14	HP:0001631	Atrial septal defect	-	OMIM:121050
55033	FKBP14	HP:0000303	Mandibular prognathia	-	OMIM:131300
55033	FKBP14	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
55033	FKBP14	HP:0001634	Mitral valve prolapse	-	OMIM:130050
55033	FKBP14	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
55033	FKBP14	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
55033	FKBP14	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
55033	FKBP14	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
55033	FKBP14	HP:0031649	Aortic rupture	1/7	OMIM:614557
55033	FKBP14	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
55033	FKBP14	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
55033	FKBP14	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:300179
55033	FKBP14	HP:0000405	Conductive hearing impairment	1/6	OMIM:614557
55033	FKBP14	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
55033	FKBP14	HP:0000400	Macrotia	7/15	OMIM:208050
55033	FKBP14	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
55033	FKBP14	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
55033	FKBP14	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55033	FKBP14	HP:0000483	Astigmatism	3/53	OMIM:154700
55033	FKBP14	HP:0000483	Astigmatism	5/15	OMIM:208050
55033	FKBP14	HP:0000486	Strabismus	110/573	OMIM:154700
55033	FKBP14	HP:0000486	Strabismus	17/37	OMIM:182212
55033	FKBP14	HP:0000482	Microcornea	0/6	OMIM:614557
55033	FKBP14	HP:0000482	Microcornea	HP:0040284	ORPHA:300179
55033	FKBP14	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
55033	FKBP14	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
55033	FKBP14	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
55033	FKBP14	HP:0000490	Deeply set eye	25/63	OMIM:154700
55033	FKBP14	HP:0000463	Anteverted nares	9/37	OMIM:182212
55033	FKBP14	HP:0001786	Narrow foot	33/53	OMIM:154700
55033	FKBP14	HP:0000470	Short neck	-	OMIM:121050
55033	FKBP14	HP:0000470	Short neck	1/7	OMIM:615777
55033	FKBP14	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55033	FKBP14	HP:0001763	Pes planus	7/7	OMIM:614557
55033	FKBP14	HP:0001763	Pes planus	27/53	OMIM:154700
55033	FKBP14	HP:0001763	Pes planus	HP:0040281	ORPHA:300179
55033	FKBP14	HP:0001763	Pes planus	1/7	OMIM:615777
55033	FKBP14	HP:0001763	Pes planus	-	OMIM:182212
55033	FKBP14	HP:0001765	Hammertoe	-	OMIM:154700
55033	FKBP14	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
55033	FKBP14	HP:0000418	Narrow nasal ridge	-	OMIM:130050
55033	FKBP14	HP:0000410	Mixed hearing impairment	HP:0040284	OMIM:614557
55033	FKBP14	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
55033	FKBP14	HP:0001762	Talipes equinovarus	-	OMIM:130050
55033	FKBP14	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:614557
55033	FKBP14	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
55033	FKBP14	HP:0001761	Pes cavus	49/146	OMIM:154700
55033	FKBP14	HP:0001757	High-frequency sensorineural hearing impairment	5/6	OMIM:614557
55033	FKBP14	HP:0000518	Cataract	118/199	OMIM:154700
55033	FKBP14	HP:0001840	Metatarsus adductus	-	OMIM:121050
55033	FKBP14	HP:0001840	Metatarsus adductus	-	OMIM:182212
55033	FKBP14	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
55033	FKBP14	HP:0001840	Metatarsus adductus	-	OMIM:615777
55033	FKBP14	HP:0001842	Foot acroosteolysis	-	OMIM:130050
55033	FKBP14	HP:0000520	Proptosis	2/4	OMIM:131300
55033	FKBP14	HP:0000520	Proptosis	7/7	OMIM:615777
55033	FKBP14	HP:0000520	Proptosis	29/37	OMIM:182212
55033	FKBP14	HP:0000506	Telecanthus	-	OMIM:182212
55033	FKBP14	HP:0000508	Ptosis	16/37	OMIM:182212
55033	FKBP14	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
55033	FKBP14	HP:0000501	Glaucoma	29/625	OMIM:154700
55033	FKBP14	HP:0000581	Blepharophimosis	-	OMIM:208050
55033	FKBP14	HP:0000577	Exotropia	72/626	OMIM:154700
55033	FKBP14	HP:0000592	Blue sclerae	1/6	OMIM:614557
55033	FKBP14	HP:0000592	Blue sclerae	2/7	OMIM:615777
55033	FKBP14	HP:0000586	Shallow orbits	13/37	OMIM:182212
55033	FKBP14	HP:0000563	Keratoconus	-	OMIM:130050
55033	FKBP14	HP:0000563	Keratoconus	3/14	OMIM:208050
55033	FKBP14	HP:0011220	Prominent forehead	17/37	OMIM:182212
55033	FKBP14	HP:0000565	Esotropia	12/573	OMIM:154700
55033	FKBP14	HP:0000541	Retinal detachment	-	OMIM:154700
55033	FKBP14	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55033	FKBP14	HP:0001883	Talipes	13/53	OMIM:154700
55033	FKBP14	HP:0012514	Lower limb pain	4/4	OMIM:131300
55033	FKBP14	HP:0000545	Myopia	-	OMIM:121050
55033	FKBP14	HP:0000545	Myopia	6/15	OMIM:208050
55033	FKBP14	HP:0000545	Myopia	4/7	OMIM:614557
55033	FKBP14	HP:0000545	Myopia	93/251	OMIM:154700
55033	FKBP14	HP:0000545	Myopia	HP:0040282	ORPHA:300179
55033	FKBP14	HP:0000545	Myopia	9/37	OMIM:182212
55034	MOCOS	HP:0010934	Xanthinuria	3/3	OMIM:603592
55034	MOCOS	HP:0010933	Hyperxanthinemia	5/5	OMIM:603592
55034	MOCOS	HP:0000083	Renal insufficiency	HP:0040283	OMIM:603592
55034	MOCOS	HP:0000007	Autosomal recessive inheritance	-	OMIM:603592
55034	MOCOS	HP:0003326	Myalgia	2/5	OMIM:603592
55034	MOCOS	HP:0011814	Increased urinary hypoxanthine level	3/3	OMIM:603592
55034	MOCOS	HP:0003596	Middle age onset	1/5	OMIM:603592
55034	MOCOS	HP:0003537	Hypouricemia	2/2	OMIM:603592
55034	MOCOS	HP:0003621	Juvenile onset	3/5	OMIM:603592
55034	MOCOS	HP:0011463	Childhood onset	1/5	OMIM:603592
55034	MOCOS	HP:0000787	Nephrolithiasis	1/5	OMIM:603592
55034	MOCOS	HP:0034333	Increased circulating hypoxanthine concentration	-	OMIM:603592
55036	CCDC40	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
55036	CCDC40	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
55036	CCDC40	HP:0001217	Clubbing	HP:0040283	ORPHA:244
55036	CCDC40	HP:0000007	Autosomal recessive inheritance	-	OMIM:613808
55036	CCDC40	HP:0002643	Neonatal respiratory distress	25/35	OMIM:613808
55036	CCDC40	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
55036	CCDC40	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
55036	CCDC40	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
55036	CCDC40	HP:0031245	Productive cough	HP:0040282	ORPHA:244
55036	CCDC40	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
55036	CCDC40	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
55036	CCDC40	HP:0100582	Nasal polyposis	4/34	OMIM:613808
55036	CCDC40	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
55036	CCDC40	HP:0002110	Bronchiectasis	17/33	OMIM:613808
55036	CCDC40	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
55036	CCDC40	HP:0008222	Female infertility	HP:0040283	ORPHA:244
55036	CCDC40	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
55036	CCDC40	HP:0002205	Recurrent respiratory infections	34/36	OMIM:613808
55036	CCDC40	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
55036	CCDC40	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
55036	CCDC40	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
55036	CCDC40	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
55036	CCDC40	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
55036	CCDC40	HP:0012735	Cough	35/35	OMIM:613808
55036	CCDC40	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
55036	CCDC40	HP:0000789	Infertility	-	OMIM:613808
55036	CCDC40	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
55036	CCDC40	HP:0004469	Chronic bronchitis	35/35	OMIM:613808
55036	CCDC40	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
55036	CCDC40	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
55036	CCDC40	HP:0030828	Wheezing	HP:0040283	ORPHA:244
55036	CCDC40	HP:0030828	Wheezing	35/35	OMIM:613808
55036	CCDC40	HP:0003251	Male infertility	HP:0040282	ORPHA:244
55036	CCDC40	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
55036	CCDC40	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
55036	CCDC40	HP:0012258	Abnormal axonemal organization of respiratory motile cilia	-	OMIM:613808
55036	CCDC40	HP:0012265	Ciliary dyskinesia	-	OMIM:613808
55036	CCDC40	HP:0031417	Rhinorrhea	31/34	OMIM:613808
55036	CCDC40	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
55036	CCDC40	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
55036	CCDC40	HP:0012208	Immotile sperm	2/2	OMIM:613808
55036	CCDC40	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
55036	CCDC40	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
55036	CCDC40	HP:0006532	Recurrent pneumonia	20/32	OMIM:613808
55036	CCDC40	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
55036	CCDC40	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
55036	CCDC40	HP:0001696	Situs inversus totalis	11/16	OMIM:613808
55036	CCDC40	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
55036	CCDC40	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
55036	CCDC40	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
55036	CCDC40	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
55036	CCDC40	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
55036	CCDC40	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
55036	CCDC40	HP:0000403	Recurrent otitis media	31/35	OMIM:613808
55036	CCDC40	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
55036	CCDC40	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
55036	CCDC40	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
55036	CCDC40	HP:0011109	Chronic sinusitis	31/34	OMIM:613808
55036	CCDC40	HP:0001746	Asplenia	HP:0040284	ORPHA:244
55036	CCDC40	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
55036	CCDC40	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
55036	CCDC40	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
55036	CCDC40	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
55036	CCDC40	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
55037	PTCD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619057
55037	PTCD3	HP:0001336	Myoclonus	1/1	OMIM:619057
55037	PTCD3	HP:0002643	Neonatal respiratory distress	1/1	OMIM:619057
55037	PTCD3	HP:0002063	Rigidity	1/1	OMIM:619057
55037	PTCD3	HP:0002059	Cerebral atrophy	1/1	OMIM:619057
55037	PTCD3	HP:0040288	Nasogastric tube feeding	1/1	OMIM:619057
55037	PTCD3	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:619057
55037	PTCD3	HP:0011951	Aspiration pneumonia	1/1	OMIM:619057
55037	PTCD3	HP:0003510	Severe short stature	1/1	OMIM:619057
55037	PTCD3	HP:0002376	Developmental regression	1/1	OMIM:619057
55037	PTCD3	HP:0000639	Nystagmus	1/1	OMIM:619057
55037	PTCD3	HP:0000648	Optic atrophy	1/1	OMIM:619057
55037	PTCD3	HP:0012692	Focal T2 hyperintense thalamic lesion	1/1	OMIM:619057
55037	PTCD3	HP:0011410	Caesarean section	1/1	OMIM:619057
55037	PTCD3	HP:0002878	Respiratory failure	1/1	OMIM:619057
55037	PTCD3	HP:0001518	Small for gestational age	1/1	OMIM:619057
55037	PTCD3	HP:0001511	Intrauterine growth retardation	1/1	OMIM:619057
55037	PTCD3	HP:0001510	Growth delay	1/1	OMIM:619057
55037	PTCD3	HP:0000365	Hearing impairment	1/1	OMIM:619057
55065	SLC52A1	HP:0001254	Lethargy	1/1	OMIM:615026
55065	SLC52A1	HP:0001252	Hypotonia	1/1	OMIM:615026
55065	SLC52A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615026
55065	SLC52A1	HP:0002033	Poor suck	-	OMIM:615026
55065	SLC52A1	HP:0002045	Hypothermia	1/1	OMIM:615026
55065	SLC52A1	HP:0100504	Decreased circulating vitamin B2 concentration	1/1	OMIM:615026
55065	SLC52A1	HP:0001943	Hypoglycemia	-	OMIM:615026
55065	SLC52A1	HP:0001942	Metabolic acidosis	1/1	OMIM:615026
55065	SLC52A1	HP:0003128	Lactic acidosis	1/1	OMIM:615026
55065	SLC52A1	HP:0003215	Dicarboxylic aciduria	1/1	OMIM:615026
55065	SLC52A1	HP:0045045	Elevated circulating acylcarnitine concentration	1/1	OMIM:615026
55072	RNF31	HP:0002593	Intestinal lymphangiectasia	1/2	OMIM:620632
55072	RNF31	HP:0001263	Global developmental delay	1/2	OMIM:620632
55072	RNF31	HP:0410305	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	1/1	OMIM:620632
55072	RNF31	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	2/2	OMIM:620632
55072	RNF31	HP:0007340	Lower limb muscle weakness	1/2	OMIM:620632
55072	RNF31	HP:0001217	Clubbing	1/2	OMIM:620632
55072	RNF31	HP:0008897	Postnatal growth retardation	1/2	OMIM:620632
55072	RNF31	HP:0031190	Superficial dermal perivascular inflammatory infiltrate	1/1	OMIM:620632
55072	RNF31	HP:0000007	Autosomal recessive inheritance	-	OMIM:620632
55072	RNF31	HP:0032435	Neonatal omphalitis	1/2	OMIM:620632
55072	RNF31	HP:0002718	Recurrent bacterial infections	1/1	OMIM:620632
55072	RNF31	HP:0002721	Immunodeficiency	2/2	OMIM:620632
55072	RNF31	HP:0003593	Infantile onset	1/1	OMIM:620632
55072	RNF31	HP:0002254	Intermittent diarrhea	1/1	OMIM:620632
55072	RNF31	HP:0003565	Elevated erythrocyte sedimentation rate	1/1	OMIM:620632
55072	RNF31	HP:0033351	Candida esophagitis	1/2	OMIM:620632
55072	RNF31	HP:0200043	Verrucae	1/2	OMIM:620632
55072	RNF31	HP:0032183	Decreased memory T cell proportion	2/2	OMIM:620632
55072	RNF31	HP:0003623	Neonatal onset	1/1	OMIM:620632
55072	RNF31	HP:0020180	Elevated haptoglobin level	1/1	OMIM:620632
55072	RNF31	HP:0001954	Recurrent fever	2/2	OMIM:620632
55072	RNF31	HP:0001903	Anemia	1/2	OMIM:620632
55072	RNF31	HP:0004315	Decreased circulating IgG concentration	1/2	OMIM:620632
55072	RNF31	HP:0003073	Hypoalbuminemia	1/1	OMIM:620632
55072	RNF31	HP:0004429	Recurrent viral infections	1/1	OMIM:620632
55072	RNF31	HP:0040081	Abnormal circulating creatine kinase concentration	0/2	OMIM:620632
55072	RNF31	HP:0003202	Skeletal muscle atrophy	1/2	OMIM:620632
55072	RNF31	HP:0000964	Eczematoid dermatitis	1/2	OMIM:620632
55072	RNF31	HP:0031402	Reduced antigen-specific T cell proliferation	2/2	OMIM:620632
55072	RNF31	HP:0001744	Splenomegaly	2/2	OMIM:620632
55072	RNF31	HP:0005403	Decreased total T cell count	1/2	OMIM:620632
55072	RNF31	HP:0011227	Elevated circulating C-reactive protein concentration	1/1	OMIM:620632
55072	RNF31	HP:0012548	Fatty replacement of skeletal muscle	1/1	OMIM:620632
55074	OXR1	HP:0001250	Seizure	5/5	OMIM:213000
55074	OXR1	HP:0001252	Hypotonia	4/5	OMIM:213000
55074	OXR1	HP:0001251	Ataxia	-	OMIM:213000
55074	OXR1	HP:0001249	Intellectual disability	5/5	OMIM:213000
55074	OXR1	HP:0001263	Global developmental delay	5/5	OMIM:213000
55074	OXR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:213000
55074	OXR1	HP:0001337	Tremor	-	OMIM:213000
55074	OXR1	HP:0002650	Scoliosis	2/5	OMIM:213000
55074	OXR1	HP:0001321	Cerebellar hypoplasia	5/5	OMIM:213000
55074	OXR1	HP:0000639	Nystagmus	-	OMIM:213000
55074	OXR1	HP:0000750	Delayed speech and language development	5/5	OMIM:213000
55081	IFT57	HP:0001156	Brachydactyly	-	OMIM:617927
55081	IFT57	HP:0009882	Short distal phalanx of finger	-	OMIM:617927
55081	IFT57	HP:0000020	Urinary incontinence	-	OMIM:617927
55081	IFT57	HP:0000007	Autosomal recessive inheritance	-	OMIM:617927
55081	IFT57	HP:0000191	Accessory oral frenulum	-	OMIM:617927
55081	IFT57	HP:0410030	Cleft lip	-	OMIM:617927
55081	IFT57	HP:0002750	Delayed skeletal maturation	-	OMIM:617927
55081	IFT57	HP:0000699	Diastema	-	OMIM:617927
55081	IFT57	HP:0004322	Short stature	-	OMIM:617927
55081	IFT57	HP:0000891	Cervical ribs	-	OMIM:617927
55081	IFT57	HP:0100259	Postaxial polydactyly	-	OMIM:617927
55081	IFT57	HP:0100258	Preaxial polydactyly	-	OMIM:617927
55081	IFT57	HP:0000954	Single transverse palmar crease	-	OMIM:617927
55081	IFT57	HP:0005819	Short middle phalanx of finger	-	OMIM:617927
55081	IFT57	HP:0002857	Genu valgum	-	OMIM:617927
55081	IFT57	HP:0000350	Small forehead	-	OMIM:617927
55081	IFT57	HP:0000321	Square face	-	OMIM:617927
55081	IFT57	HP:0000322	Short philtrum	-	OMIM:617927
55081	IFT57	HP:0000431	Wide nasal bridge	-	OMIM:617927
55081	IFT57	HP:0000426	Prominent nasal bridge	-	OMIM:617927
55081	IFT57	HP:0001852	Sandal gap	-	OMIM:617927
55081	IFT57	HP:0000582	Upslanted palpebral fissure	-	OMIM:617927
55084	SOBP	HP:0002465	Poor speech	-	OMIM:613671
55084	SOBP	HP:0010864	Intellectual disability, severe	7/7	OMIM:613671
55084	SOBP	HP:0001263	Global developmental delay	-	OMIM:613671
55084	SOBP	HP:0001382	Joint hypermobility	7/7	OMIM:613671
55084	SOBP	HP:0000007	Autosomal recessive inheritance	-	OMIM:613671
55084	SOBP	HP:0003593	Infantile onset	-	OMIM:613671
55084	SOBP	HP:0430028	Hyperplasia of the maxilla	6/7	OMIM:613671
55084	SOBP	HP:0010807	Open bite	6/7	OMIM:613671
55084	SOBP	HP:0000646	Amblyopia	1/7	OMIM:613671
55084	SOBP	HP:0000678	Dental crowding	6/7	OMIM:613671
55084	SOBP	HP:0000736	Short attention span	4/7	OMIM:613671
55084	SOBP	HP:0000750	Delayed speech and language development	-	OMIM:613671
55084	SOBP	HP:0000709	Psychosis	1/7	OMIM:613671
55084	SOBP	HP:0000486	Strabismus	6/7	OMIM:613671
55084	SOBP	HP:0000505	Visual impairment	1/7	OMIM:613671
55084	SOBP	HP:0000565	Esotropia	6/7	OMIM:613671
55084	SOBP	HP:0000540	Hypermetropia	1/7	OMIM:613671
55107	ANO1	HP:0001297	Stroke	-	OMIM:620687
55107	ANO1	HP:0001269	Hemiparesis	-	OMIM:620687
55107	ANO1	HP:0002587	Projectile vomiting	1/2	OMIM:620045
55107	ANO1	HP:0001252	Hypotonia	1/2	OMIM:620045
55107	ANO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620687
55107	ANO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620045
55107	ANO1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620687
55107	ANO1	HP:0002014	Diarrhea	2/2	OMIM:620045
55107	ANO1	HP:0100546	Carotid artery stenosis	-	OMIM:620687
55107	ANO1	HP:0002076	Migraine	-	OMIM:620687
55107	ANO1	HP:0003577	Congenital onset	1/2	OMIM:620045
55107	ANO1	HP:0003581	Adult onset	-	OMIM:620687
55107	ANO1	HP:0011968	Feeding difficulties	1/2	OMIM:620045
55107	ANO1	HP:0002315	Headache	-	OMIM:620687
55107	ANO1	HP:0002326	Transient ischemic attack	-	OMIM:620687
55107	ANO1	HP:0003623	Neonatal onset	1/2	OMIM:620045
55107	ANO1	HP:0011463	Childhood onset	-	OMIM:620687
55107	ANO1	HP:0030897	Decreased intestinal transit time	1/2	OMIM:620045
55107	ANO1	HP:0003270	Abdominal distention	1/2	OMIM:620045
55107	ANO1	HP:0008081	Pes valgus	1/2	OMIM:620045
55107	ANO1	HP:0000289	Broad philtrum	1/2	OMIM:620045
55107	ANO1	HP:0000218	High palate	1/2	OMIM:620045
55107	ANO1	HP:0001561	Polyhydramnios	2/2	OMIM:620045
55107	ANO1	HP:0001508	Failure to thrive	1/2	OMIM:620045
55107	ANO1	HP:0000369	Low-set ears	1/2	OMIM:620045
55107	ANO1	HP:0012495	Posterior cerebral artery stenosis	-	OMIM:620687
55107	ANO1	HP:0000518	Cataract	1/2	OMIM:620045
55107	ANO1	HP:0001824	Weight loss	1/2	OMIM:620045
55109	AGGF1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0000098	Tall stature	HP:0040282	ORPHA:90308
55109	AGGF1	HP:0000140	Abnormality of the menstrual cycle	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0100560	Upper limb asymmetry	HP:0040281	ORPHA:90308
55109	AGGF1	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0100559	Lower limb asymmetry	HP:0040281	ORPHA:90308
55109	AGGF1	HP:0011842	Abnormal skeletal morphology	HP:0040281	ORPHA:90308
55109	AGGF1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:90308
55109	AGGF1	HP:0002204	Pulmonary embolism	HP:0040282	ORPHA:90308
55109	AGGF1	HP:0100784	Peripheral arteriovenous fistula	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0100724	Hypercoagulability	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0001028	Hemangioma	HP:0040281	ORPHA:90308
55109	AGGF1	HP:0100658	Cellulitis	HP:0040282	ORPHA:90308
55109	AGGF1	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:90308
55109	AGGF1	HP:0001935	Microcytic anemia	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0003010	Prolonged bleeding time	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0000790	Hematuria	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0004414	Abnormality of the pulmonary artery	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0000929	Abnormal skull morphology	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0000969	Edema	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0000252	Microcephaly	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0001541	Ascites	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0011029	Internal hemorrhage	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0001702	Abnormal tricuspid valve morphology	HP:0040283	ORPHA:90308
55109	AGGF1	HP:0005293	Venous insufficiency	HP:0040281	ORPHA:90308
55109	AGGF1	HP:0001789	Hydrops fetalis	HP:0040283	ORPHA:90308
55112	DYNC2I1	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:93271
55112	DYNC2I1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:474
55112	DYNC2I1	HP:0001156	Brachydactyly	-	OMIM:615503
55112	DYNC2I1	HP:0001162	Postaxial hand polydactyly	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:474
55112	DYNC2I1	HP:0001159	Syndactyly	-	OMIM:615503
55112	DYNC2I1	HP:0003762	Uterus didelphys	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55112	DYNC2I1	HP:0001293	Cranial nerve compression	-	OMIM:131300
55112	DYNC2I1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93271
55112	DYNC2I1	HP:0001252	Hypotonia	2/7	OMIM:615777
55112	DYNC2I1	HP:0001249	Intellectual disability	5/7	OMIM:615777
55112	DYNC2I1	HP:0001263	Global developmental delay	-	OMIM:615777
55112	DYNC2I1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0008716	Urethrovaginal fistula	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0002515	Waddling gait	54/102	OMIM:131300
55112	DYNC2I1	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:474
55112	DYNC2I1	HP:0000090	Nephronophthisis	HP:0040283	ORPHA:474
55112	DYNC2I1	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0000062	Ambiguous genitalia	-	OMIM:615503
55112	DYNC2I1	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:474
55112	DYNC2I1	HP:0001382	Joint hypermobility	-	OMIM:615777
55112	DYNC2I1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55112	DYNC2I1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55112	DYNC2I1	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:93271
55112	DYNC2I1	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:474
55112	DYNC2I1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55112	DYNC2I1	HP:0001324	Muscle weakness	40/96	OMIM:131300
55112	DYNC2I1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55112	DYNC2I1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55112	DYNC2I1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615503
55112	DYNC2I1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55112	DYNC2I1	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:93271
55112	DYNC2I1	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:474
55112	DYNC2I1	HP:0002650	Scoliosis	12/14	OMIM:131300
55112	DYNC2I1	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:93271
55112	DYNC2I1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55112	DYNC2I1	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:474
55112	DYNC2I1	HP:0002612	Congenital hepatic fibrosis	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55112	DYNC2I1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55112	DYNC2I1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55112	DYNC2I1	HP:0000175	Cleft palate	2/7	OMIM:615777
55112	DYNC2I1	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0000112	Nephropathy	HP:0040283	ORPHA:474
55112	DYNC2I1	HP:0000107	Renal cyst	HP:0040283	ORPHA:93271
55112	DYNC2I1	HP:0002023	Anal atresia	HP:0040283	ORPHA:93271
55112	DYNC2I1	HP:0002032	Esophageal atresia	HP:0040283	ORPHA:93271
55112	DYNC2I1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0002006	Tessier cleft	HP:0040283	ORPHA:93271
55112	DYNC2I1	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:93271
55112	DYNC2I1	HP:0002089	Pulmonary hypoplasia	-	OMIM:615503
55112	DYNC2I1	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:93271
55112	DYNC2I1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:474
55112	DYNC2I1	HP:0003388	Easy fatigability	36/76	OMIM:131300
55112	DYNC2I1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55112	DYNC2I1	HP:0010454	Acetabular spurs	-	OMIM:615503
55112	DYNC2I1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:93271
55112	DYNC2I1	HP:0010564	Bifid epiglottis	HP:0040283	ORPHA:93271
55112	DYNC2I1	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:474
55112	DYNC2I1	HP:0100732	Pancreatic fibrosis	-	OMIM:615503
55112	DYNC2I1	HP:0003510	Severe short stature	7/7	OMIM:615777
55112	DYNC2I1	HP:0002315	Headache	-	OMIM:131300
55112	DYNC2I1	HP:0004976	Knee dislocation	6/7	OMIM:615777
55112	DYNC2I1	HP:0009803	Short phalanx of finger	-	OMIM:615777
55112	DYNC2I1	HP:0009763	Limb pain	63/92	OMIM:131300
55112	DYNC2I1	HP:0003621	Juvenile onset	-	OMIM:131300
55112	DYNC2I1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55112	DYNC2I1	HP:0004279	Short palm	HP:0040281	ORPHA:93271
55112	DYNC2I1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55112	DYNC2I1	HP:6001056	Out-toeing	-	OMIM:131300
55112	DYNC2I1	HP:0000651	Diplopia	-	OMIM:131300
55112	DYNC2I1	HP:0001956	Truncal obesity	2/7	OMIM:615777
55112	DYNC2I1	HP:0001903	Anemia	HP:0040283	OMIM:131300
55112	DYNC2I1	HP:0010049	Short metacarpal	-	OMIM:615777
55112	DYNC2I1	HP:0000678	Dental crowding	-	OMIM:615777
55112	DYNC2I1	HP:0000670	Carious teeth	-	OMIM:131300
55112	DYNC2I1	HP:0011304	Broad thumb	2/7	OMIM:615777
55112	DYNC2I1	HP:0000668	Hypodontia	-	OMIM:615777
55112	DYNC2I1	HP:0000664	Synophrys	-	OMIM:615777
55112	DYNC2I1	HP:0004322	Short stature	-	OMIM:615503
55112	DYNC2I1	HP:0004322	Short stature	HP:0040283	ORPHA:474
55112	DYNC2I1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0004397	Ectopic anus	HP:0040283	ORPHA:93271
55112	DYNC2I1	HP:0004396	Poor appetite	-	OMIM:131300
55112	DYNC2I1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55112	DYNC2I1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55112	DYNC2I1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55112	DYNC2I1	HP:0003026	Short long bone	7/7	OMIM:615777
55112	DYNC2I1	HP:0003026	Short long bone	-	OMIM:615503
55112	DYNC2I1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55112	DYNC2I1	HP:0009106	Abnormal pelvis bone ossification	HP:0040281	ORPHA:93271
55112	DYNC2I1	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:474
55112	DYNC2I1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55112	DYNC2I1	HP:0000766	Abnormal sternum morphology	HP:0040282	ORPHA:474
55112	DYNC2I1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55112	DYNC2I1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55112	DYNC2I1	HP:0000750	Delayed speech and language development	-	OMIM:615777
55112	DYNC2I1	HP:0011461	Fetal onset	7/7	OMIM:615777
55112	DYNC2I1	HP:0000774	Narrow chest	HP:0040281	ORPHA:93271
55112	DYNC2I1	HP:0000774	Narrow chest	HP:0040281	ORPHA:474
55112	DYNC2I1	HP:0000774	Narrow chest	-	OMIM:615503
55112	DYNC2I1	HP:0000774	Narrow chest	2/7	OMIM:615777
55112	DYNC2I1	HP:0000773	Short ribs	HP:0040281	ORPHA:93271
55112	DYNC2I1	HP:0000773	Short ribs	-	OMIM:615503
55112	DYNC2I1	HP:0005716	Lethal skeletal dysplasia	HP:0040281	ORPHA:93271
55112	DYNC2I1	HP:0000926	Platyspondyly	1/7	OMIM:615777
55112	DYNC2I1	HP:0003180	Flat acetabular roof	-	OMIM:615777
55112	DYNC2I1	HP:0004482	Relative macrocephaly	-	OMIM:615777
55112	DYNC2I1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55112	DYNC2I1	HP:0000889	Abnormal clavicle morphology	HP:0040282	ORPHA:474
55112	DYNC2I1	HP:0000823	Delayed puberty	-	OMIM:131300
55112	DYNC2I1	HP:0010297	Bifid tongue	HP:0040283	ORPHA:93271
55112	DYNC2I1	HP:0000895	Lateral clavicle hook	-	OMIM:615503
55112	DYNC2I1	HP:0000894	Short clavicles	-	OMIM:615777
55112	DYNC2I1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55112	DYNC2I1	HP:0003270	Abdominal distention	HP:0040281	ORPHA:93271
55112	DYNC2I1	HP:0004599	Absent or minimally ossified vertebral bodies	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0100259	Postaxial polydactyly	-	OMIM:615503
55112	DYNC2I1	HP:0100258	Preaxial polydactyly	-	OMIM:615503
55112	DYNC2I1	HP:0010306	Short thorax	HP:0040281	ORPHA:474
55112	DYNC2I1	HP:0010306	Short thorax	HP:0040281	ORPHA:93271
55112	DYNC2I1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55112	DYNC2I1	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:474
55112	DYNC2I1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:93271
55112	DYNC2I1	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:474
55112	DYNC2I1	HP:0000286	Epicanthus	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0000286	Epicanthus	1/7	OMIM:615777
55112	DYNC2I1	HP:0000280	Coarse facial features	2/7	OMIM:615777
55112	DYNC2I1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0000256	Macrocephaly	-	OMIM:615503
55112	DYNC2I1	HP:0002827	Hip dislocation	3/7	OMIM:615777
55112	DYNC2I1	HP:0000252	Microcephaly	-	OMIM:615777
55112	DYNC2I1	HP:0001561	Polyhydramnios	-	OMIM:615503
55112	DYNC2I1	HP:0002857	Genu valgum	-	OMIM:131300
55112	DYNC2I1	HP:0001539	Omphalocele	HP:0040283	ORPHA:93271
55112	DYNC2I1	HP:0001533	Slender build	-	OMIM:131300
55112	DYNC2I1	HP:0000204	Cleft upper lip	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0001508	Failure to thrive	-	OMIM:615503
55112	DYNC2I1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55112	DYNC2I1	HP:0007807	Optic nerve compression	-	OMIM:131300
55112	DYNC2I1	HP:0012368	Flat face	7/7	OMIM:615777
55112	DYNC2I1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55112	DYNC2I1	HP:0000365	Hearing impairment	10/67	OMIM:131300
55112	DYNC2I1	HP:0000343	Long philtrum	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0000343	Long philtrum	1/7	OMIM:615777
55112	DYNC2I1	HP:0011001	Increased bone mineral density	-	OMIM:131300
55112	DYNC2I1	HP:0000347	Micrognathia	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0002983	Micromelia	HP:0040281	ORPHA:93271
55112	DYNC2I1	HP:0002983	Micromelia	HP:0040281	ORPHA:474
55112	DYNC2I1	HP:0002980	Femoral bowing	-	OMIM:615503
55112	DYNC2I1	HP:0000311	Round face	2/7	OMIM:615777
55112	DYNC2I1	HP:0001629	Ventricular septal defect	-	OMIM:615503
55112	DYNC2I1	HP:0002970	Genu varum	-	OMIM:615777
55112	DYNC2I1	HP:0000303	Mandibular prognathia	-	OMIM:131300
55112	DYNC2I1	HP:0006644	Thoracic dysplasia	-	OMIM:615503
55112	DYNC2I1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0005280	Depressed nasal bridge	-	OMIM:615503
55112	DYNC2I1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55112	DYNC2I1	HP:0001789	Hydrops fetalis	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0000470	Short neck	1/7	OMIM:615777
55112	DYNC2I1	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:474
55112	DYNC2I1	HP:0001773	Short foot	HP:0040281	ORPHA:93271
55112	DYNC2I1	HP:0001773	Short foot	HP:0040282	ORPHA:474
55112	DYNC2I1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55112	DYNC2I1	HP:0001763	Pes planus	1/7	OMIM:615777
55112	DYNC2I1	HP:0000445	Wide nose	HP:0040282	ORPHA:93271
55112	DYNC2I1	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040283	ORPHA:474
55112	DYNC2I1	HP:0000518	Cataract	HP:0040283	ORPHA:93271
55112	DYNC2I1	HP:0001840	Metatarsus adductus	-	OMIM:615777
55112	DYNC2I1	HP:0000520	Proptosis	2/4	OMIM:131300
55112	DYNC2I1	HP:0000520	Proptosis	7/7	OMIM:615777
55112	DYNC2I1	HP:0001830	Postaxial foot polydactyly	HP:0040283	ORPHA:474
55112	DYNC2I1	HP:0000592	Blue sclerae	2/7	OMIM:615777
55112	DYNC2I1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55112	DYNC2I1	HP:0012514	Lower limb pain	4/4	OMIM:131300
55120	FANCL	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
55120	FANCL	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
55120	FANCL	HP:0009892	Anotia	1/3	OMIM:614083
55120	FANCL	HP:0008551	Microtia	1/3	OMIM:614083
55120	FANCL	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
55120	FANCL	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
55120	FANCL	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
55120	FANCL	HP:0001263	Global developmental delay	1/1	OMIM:614083
55120	FANCL	HP:0002575	Tracheoesophageal fistula	2/3	OMIM:614083
55120	FANCL	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
55120	FANCL	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
55120	FANCL	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
55120	FANCL	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
55120	FANCL	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
55120	FANCL	HP:0000089	Renal hypoplasia	HP:0040283	OMIM:614083
55120	FANCL	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
55120	FANCL	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
55120	FANCL	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
55120	FANCL	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
55120	FANCL	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
55120	FANCL	HP:0000054	Micropenis	1/1	OMIM:614083
55120	FANCL	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
55120	FANCL	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
55120	FANCL	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
55120	FANCL	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
55120	FANCL	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
55120	FANCL	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
55120	FANCL	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
55120	FANCL	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
55120	FANCL	HP:0000007	Autosomal recessive inheritance	-	OMIM:614083
55120	FANCL	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
55120	FANCL	HP:0001321	Cerebellar hypoplasia	1/3	OMIM:614083
55120	FANCL	HP:0003974	Absent radius	3/3	OMIM:614083
55120	FANCL	HP:0000175	Cleft palate	1/3	OMIM:614083
55120	FANCL	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
55120	FANCL	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
55120	FANCL	HP:0000151	Aplasia of the uterus	1/2	OMIM:614083
55120	FANCL	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
55120	FANCL	HP:0000122	Unilateral renal agenesis	2/3	OMIM:614083
55120	FANCL	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
55120	FANCL	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
55120	FANCL	HP:0002023	Anal atresia	1/3	OMIM:614083
55120	FANCL	HP:0002032	Esophageal atresia	2/3	OMIM:614083
55120	FANCL	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
55120	FANCL	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
55120	FANCL	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
55120	FANCL	HP:0010469	Absent testis	HP:0040283	ORPHA:84
55120	FANCL	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
55120	FANCL	HP:0002188	Delayed CNS myelination	1/1	OMIM:614083
55120	FANCL	HP:0003593	Infantile onset	1/1	OMIM:614083
55120	FANCL	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
55120	FANCL	HP:0003577	Congenital onset	3/3	OMIM:614083
55120	FANCL	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
55120	FANCL	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
55120	FANCL	HP:0007018	Attention deficit hyperactivity disorder	1/1	OMIM:614083
55120	FANCL	HP:0011968	Feeding difficulties	1/1	OMIM:614083
55120	FANCL	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
55120	FANCL	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
55120	FANCL	HP:0009777	Absent thumb	3/3	OMIM:614083
55120	FANCL	HP:0005528	Bone marrow hypocellularity	HP:0040283	OMIM:614083
55120	FANCL	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
55120	FANCL	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
55120	FANCL	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
55120	FANCL	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
55120	FANCL	HP:0001903	Anemia	-	OMIM:614083
55120	FANCL	HP:0001903	Anemia	HP:0040281	ORPHA:84
55120	FANCL	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
55120	FANCL	HP:0004322	Short stature	HP:0040281	ORPHA:84
55120	FANCL	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
55120	FANCL	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
55120	FANCL	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
55120	FANCL	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
55120	FANCL	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
55120	FANCL	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
55120	FANCL	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
55120	FANCL	HP:0040012	Chromosome breakage	3/3	OMIM:614083
55120	FANCL	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
55120	FANCL	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
55120	FANCL	HP:0003221	Chromosomal breakage induced by crosslinking agents	1/1	OMIM:614083
55120	FANCL	HP:0004590	Hypoplastic sacrum	1/3	OMIM:614083
55120	FANCL	HP:0000957	Cafe-au-lait spot	1/1	OMIM:614083
55120	FANCL	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
55120	FANCL	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
55120	FANCL	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
55120	FANCL	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
55120	FANCL	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
55120	FANCL	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
55120	FANCL	HP:0000238	Hydrocephalus	2/3	OMIM:614083
55120	FANCL	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
55120	FANCL	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
55120	FANCL	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
55120	FANCL	HP:0000218	High palate	HP:0040283	ORPHA:84
55120	FANCL	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
55120	FANCL	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
55120	FANCL	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
55120	FANCL	HP:0001511	Intrauterine growth retardation	2/3	OMIM:614083
55120	FANCL	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
55120	FANCL	HP:0001510	Growth delay	1/1	OMIM:614083
55120	FANCL	HP:0001510	Growth delay	HP:0040283	ORPHA:84
55120	FANCL	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
55120	FANCL	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
55120	FANCL	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
55120	FANCL	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
55120	FANCL	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
55120	FANCL	HP:0000369	Low-set ears	1/3	OMIM:614083
55120	FANCL	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
55120	FANCL	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
55120	FANCL	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
55120	FANCL	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
55120	FANCL	HP:0000347	Micrognathia	1/3	OMIM:614083
55120	FANCL	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
55120	FANCL	HP:0000316	Hypertelorism	2/3	OMIM:614083
55120	FANCL	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
55120	FANCL	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
55120	FANCL	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
55120	FANCL	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
55120	FANCL	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
55120	FANCL	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
55120	FANCL	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
55120	FANCL	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
55120	FANCL	HP:0000486	Strabismus	HP:0040283	ORPHA:84
55120	FANCL	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
55120	FANCL	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
55120	FANCL	HP:0000470	Short neck	HP:0040283	OMIM:614083
55120	FANCL	HP:0000465	Webbed neck	1/3	OMIM:614083
55120	FANCL	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
55120	FANCL	HP:0000437	Depressed nasal tip	1/3	OMIM:614083
55120	FANCL	HP:0001763	Pes planus	HP:0040283	ORPHA:84
55120	FANCL	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
55120	FANCL	HP:0001776	Bilateral talipes equinovarus	1/3	OMIM:614083
55120	FANCL	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
55120	FANCL	HP:0000431	Wide nasal bridge	HP:0040283	OMIM:614083
55120	FANCL	HP:0000518	Cataract	HP:0040283	ORPHA:84
55120	FANCL	HP:0000520	Proptosis	HP:0040283	ORPHA:84
55120	FANCL	HP:0001824	Weight loss	HP:0040283	ORPHA:84
55120	FANCL	HP:0000508	Ptosis	HP:0040283	ORPHA:84
55120	FANCL	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
55120	FANCL	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
55120	FANCL	HP:0000582	Upslanted palpebral fissure	1/3	OMIM:614083
55120	FANCL	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
55120	FANCL	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
55120	FANCL	HP:0000568	Microphthalmia	HP:0040283	OMIM:614083
55120	FANCL	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
55120	FANCL	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
55120	FANCL	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
55129	ANO10	HP:0001152	Saccadic smooth pursuit	HP:0040282	ORPHA:284289
55129	ANO10	HP:0007240	Progressive gait ataxia	HP:0040282	ORPHA:284289
55129	ANO10	HP:0001272	Cerebellar atrophy	7/7	OMIM:613728
55129	ANO10	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:284289
55129	ANO10	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:284289
55129	ANO10	HP:0001249	Intellectual disability	2/8	OMIM:613728
55129	ANO10	HP:0001260	Dysarthria	8/8	OMIM:613728
55129	ANO10	HP:0001260	Dysarthria	HP:0040282	ORPHA:284289
55129	ANO10	HP:0007350	Upper limb hyperreflexia	8/8	OMIM:613728
55129	ANO10	HP:0007338	Hypermetric saccades	5/8	OMIM:613728
55129	ANO10	HP:0001350	Slurred speech	HP:0040282	ORPHA:284289
55129	ANO10	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:284289
55129	ANO10	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:284289
55129	ANO10	HP:0000007	Autosomal recessive inheritance	-	OMIM:613728
55129	ANO10	HP:0001310	Dysmetria	HP:0040282	ORPHA:284289
55129	ANO10	HP:0001310	Dysmetria	-	OMIM:613728
55129	ANO10	HP:0008969	Leg muscle stiffness	HP:0040282	ORPHA:284289
55129	ANO10	HP:0002080	Intention tremor	HP:0040283	ORPHA:284289
55129	ANO10	HP:0002080	Intention tremor	HP:0040283	OMIM:613728
55129	ANO10	HP:0002066	Gait ataxia	8/8	OMIM:613728
55129	ANO10	HP:0002078	Truncal ataxia	HP:0040282	ORPHA:284289
55129	ANO10	HP:0002078	Truncal ataxia	-	OMIM:613728
55129	ANO10	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:284289
55129	ANO10	HP:0002070	Limb ataxia	HP:0040282	ORPHA:284289
55129	ANO10	HP:0002070	Limb ataxia	8/8	OMIM:613728
55129	ANO10	HP:0003487	Babinski sign	2/8	OMIM:613728
55129	ANO10	HP:0003457	EMG abnormality	HP:0040282	ORPHA:284289
55129	ANO10	HP:0002197	Generalized-onset seizure	HP:0040282	ORPHA:284289
55129	ANO10	HP:0033206	Hyperactive Achilles reflex	8/8	OMIM:613728
55129	ANO10	HP:0010545	Downbeat nystagmus	HP:0040282	ORPHA:284289
55129	ANO10	HP:0010545	Downbeat nystagmus	3/8	OMIM:613728
55129	ANO10	HP:0003596	Middle age onset	1/8	OMIM:613728
55129	ANO10	HP:0007083	Hyperactive patellar reflex	8/8	OMIM:613728
55129	ANO10	HP:0002380	Fasciculations	HP:0040282	ORPHA:284289
55129	ANO10	HP:0002380	Fasciculations	2/8	OMIM:613728
55129	ANO10	HP:0003621	Juvenile onset	3/8	OMIM:613728
55129	ANO10	HP:0000639	Nystagmus	8/8	OMIM:613728
55129	ANO10	HP:0000651	Diplopia	HP:0040283	ORPHA:284289
55129	ANO10	HP:0000641	Dysmetric saccades	HP:0040282	ORPHA:284289
55129	ANO10	HP:0000608	Macular degeneration	HP:0040282	ORPHA:284289
55129	ANO10	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:284289
55129	ANO10	HP:0011462	Young adult onset	4/8	OMIM:613728
55129	ANO10	HP:0011448	Ankle clonus	HP:0040282	ORPHA:284289
55129	ANO10	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:284289
55129	ANO10	HP:0001761	Pes cavus	3/8	OMIM:613728
55129	ANO10	HP:0001761	Pes cavus	HP:0040282	ORPHA:284289
55129	ANO10	HP:0000518	Cataract	HP:0040283	ORPHA:284289
55129	ANO10	HP:0000514	Slow saccadic eye movements	1/8	OMIM:613728
55129	ANO10	HP:0000508	Ptosis	HP:0040282	ORPHA:284289
55129	ANO10	HP:0000503	Tortuosity of conjunctival vessels	HP:0040283	ORPHA:284289
55129	ANO10	HP:0000503	Tortuosity of conjunctival vessels	3/8	OMIM:613728
55130	ODAD2	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
55130	ODAD2	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
55130	ODAD2	HP:0001217	Clubbing	HP:0040283	ORPHA:244
55130	ODAD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615451
55130	ODAD2	HP:0002643	Neonatal respiratory distress	5/12	OMIM:615451
55130	ODAD2	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
55130	ODAD2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
55130	ODAD2	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
55130	ODAD2	HP:0031245	Productive cough	HP:0040282	ORPHA:244
55130	ODAD2	HP:0031245	Productive cough	8/12	OMIM:615451
55130	ODAD2	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
55130	ODAD2	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
55130	ODAD2	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
55130	ODAD2	HP:0002110	Bronchiectasis	7/12	OMIM:615451
55130	ODAD2	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
55130	ODAD2	HP:0008222	Female infertility	HP:0040283	ORPHA:244
55130	ODAD2	HP:0002257	Chronic rhinitis	5/12	OMIM:615451
55130	ODAD2	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
55130	ODAD2	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
55130	ODAD2	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
55130	ODAD2	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
55130	ODAD2	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	-	OMIM:615451
55130	ODAD2	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
55130	ODAD2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
55130	ODAD2	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
55130	ODAD2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
55130	ODAD2	HP:0004469	Chronic bronchitis	7/12	OMIM:615451
55130	ODAD2	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
55130	ODAD2	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
55130	ODAD2	HP:0030828	Wheezing	HP:0040283	ORPHA:244
55130	ODAD2	HP:0003251	Male infertility	HP:0040282	ORPHA:244
55130	ODAD2	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
55130	ODAD2	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
55130	ODAD2	HP:0012265	Ciliary dyskinesia	-	OMIM:615451
55130	ODAD2	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
55130	ODAD2	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
55130	ODAD2	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
55130	ODAD2	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
55130	ODAD2	HP:0006532	Recurrent pneumonia	5/12	OMIM:615451
55130	ODAD2	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
55130	ODAD2	HP:0001696	Situs inversus totalis	8/12	OMIM:615451
55130	ODAD2	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
55130	ODAD2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
55130	ODAD2	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
55130	ODAD2	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
55130	ODAD2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
55130	ODAD2	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
55130	ODAD2	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
55130	ODAD2	HP:0000403	Recurrent otitis media	4/12	OMIM:615451
55130	ODAD2	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
55130	ODAD2	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
55130	ODAD2	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
55130	ODAD2	HP:0011108	Recurrent sinusitis	7/12	OMIM:615451
55130	ODAD2	HP:0001746	Asplenia	HP:0040284	ORPHA:244
55130	ODAD2	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
55130	ODAD2	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
55130	ODAD2	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
55130	ODAD2	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
55130	ODAD2	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
55131	RBM28	HP:0002493	Upper motor neuron dysfunction	5/5	OMIM:612079
55131	RBM28	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:612079
55131	RBM28	HP:0003700	Generalized amyotrophy	HP:0040283	ORPHA:157954
55131	RBM28	HP:0001249	Intellectual disability	HP:0040282	ORPHA:157954
55131	RBM28	HP:0001249	Intellectual disability	5/5	OMIM:612079
55131	RBM28	HP:0007373	Motor neuron atrophy	HP:0040282	ORPHA:157954
55131	RBM28	HP:0031074	Abnormal response to ACTH stimulation test	HP:0040282	ORPHA:157954
55131	RBM28	HP:6000745	Flexural reticulate hyperpigmentation	-	OMIM:612079
55131	RBM28	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:157954
55131	RBM28	HP:0000044	Hypogonadotropic hypogonadism	5/5	OMIM:612079
55131	RBM28	HP:0007481	Hyperpigmented nevi	HP:0040282	ORPHA:157954
55131	RBM28	HP:0000007	Autosomal recessive inheritance	-	OMIM:612079
55131	RBM28	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:157954
55131	RBM28	HP:0002751	Kyphoscoliosis	4/5	OMIM:612079
55131	RBM28	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:157954
55131	RBM28	HP:0011734	Central adrenal insufficiency	5/5	OMIM:612079
55131	RBM28	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	HP:0040282	ORPHA:157954
55131	RBM28	HP:0100578	Lipoatrophy	HP:0040282	ORPHA:157954
55131	RBM28	HP:0009487	Ulnar deviation of the hand	HP:0040282	ORPHA:157954
55131	RBM28	HP:0009487	Ulnar deviation of the hand	-	OMIM:612079
55131	RBM28	HP:0008245	Pituitary hypothyroidism	HP:0040283	ORPHA:157954
55131	RBM28	HP:0008202	Reduced circulating prolactin concentration	HP:0040283	ORPHA:157954
55131	RBM28	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:157954
55131	RBM28	HP:0002333	Motor deterioration	HP:0040282	ORPHA:157954
55131	RBM28	HP:0002333	Motor deterioration	5/5	OMIM:612079
55131	RBM28	HP:0000670	Carious teeth	HP:0040282	ORPHA:157954
55131	RBM28	HP:0000670	Carious teeth	5/5	OMIM:612079
55131	RBM28	HP:0000668	Hypodontia	HP:0040282	ORPHA:157954
55131	RBM28	HP:0000668	Hypodontia	3/5	OMIM:612079
55131	RBM28	HP:0004322	Short stature	HP:0040282	ORPHA:157954
55131	RBM28	HP:0004322	Short stature	2/5	OMIM:612079
55131	RBM28	HP:0000771	Gynecomastia	HP:0040282	ORPHA:157954
55131	RBM28	HP:0000771	Gynecomastia	4/5	OMIM:612079
55131	RBM28	HP:0003121	Limb joint contracture	4/5	OMIM:612079
55131	RBM28	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:157954
55131	RBM28	HP:0000823	Delayed puberty	HP:0040282	ORPHA:157954
55131	RBM28	HP:0000823	Delayed puberty	5/5	OMIM:612079
55131	RBM28	HP:0003202	Skeletal muscle atrophy	3/5	OMIM:612079
55131	RBM28	HP:0000995	Melanocytic nevus	-	OMIM:612079
55131	RBM28	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:157954
55131	RBM28	HP:0040171	Decreased serum testosterone concentration	HP:0040282	ORPHA:157954
55131	RBM28	HP:0001596	Alopecia	HP:0040282	ORPHA:157954
55131	RBM28	HP:0001596	Alopecia	5/5	OMIM:612079
55131	RBM28	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:157954
55131	RBM28	HP:0000252	Microcephaly	HP:0040282	ORPHA:157954
55131	RBM28	HP:0000252	Microcephaly	3/5	OMIM:612079
55131	RBM28	HP:0006480	Premature loss of teeth	HP:0040282	ORPHA:157954
55131	RBM28	HP:0012506	Small pituitary gland	1/1	OMIM:612079
55131	RBM28	HP:0030353	Decreased serum insulin-like growth factor 1	HP:0040282	ORPHA:157954
55135	WRAP53	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1775
55135	WRAP53	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0008661	Urethral stenosis	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0001399	Hepatic failure	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0001394	Cirrhosis	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0002664	Neoplasm	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0000007	Autosomal recessive inheritance	-	OMIM:613988
55135	WRAP53	HP:0002665	Lymphoma	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0002650	Scoliosis	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0002745	Oral leukoplakia	HP:0040281	ORPHA:1775
55135	WRAP53	HP:0002745	Oral leukoplakia	2/2	OMIM:613988
55135	WRAP53	HP:0002024	Malabsorption	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0010450	Esophageal stenosis	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0002216	Premature graying of hair	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0008404	Nail dystrophy	2/2	OMIM:613988
55135	WRAP53	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:1775
55135	WRAP53	HP:0010624	Aplastic/hypoplastic toenail	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:1775
55135	WRAP53	HP:0001000	Abnormality of skin pigmentation	2/2	OMIM:613988
55135	WRAP53	HP:0200037	Skin vesicle	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0100670	Coarse metaphyseal trabecularization	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0200042	Skin ulcer	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0005528	Bone marrow hypocellularity	2/2	OMIM:613988
55135	WRAP53	HP:0005528	Bone marrow hypocellularity	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0000600	Abnormality of the pharynx	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0001903	Anemia	HP:0040281	ORPHA:1775
55135	WRAP53	HP:0011364	White hair	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0000679	Taurodontia	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0000670	Carious teeth	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0000668	Hypodontia	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0004322	Short stature	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0012733	Macule	HP:0040281	ORPHA:1775
55135	WRAP53	HP:0000704	Periodontitis	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0000939	Osteoporosis	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0008070	Sparse hair	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:1775
55135	WRAP53	HP:0001596	Alopecia	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0031413	Short telomere length	2/2	OMIM:613988
55135	WRAP53	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0000499	Abnormal eyelash morphology	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0000498	Blepharitis	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0005374	Cellular immunodeficiency	HP:0040282	ORPHA:1775
55135	WRAP53	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0030413	Squamous cell carcinoma of the tongue	1/2	OMIM:613988
55135	WRAP53	HP:0000518	Cataract	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0000534	Abnormal eyebrow morphology	HP:0040283	ORPHA:1775
55135	WRAP53	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:1775
55135	WRAP53	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:1775
55135	WRAP53	HP:0001876	Pancytopenia	-	OMIM:613988
55145	THAP1	HP:0002451	Limb dystonia	HP:0040284	ORPHA:98806
55145	THAP1	HP:0002451	Limb dystonia	28/29	OMIM:602629
55145	THAP1	HP:0007325	Generalized dystonia	HP:0040281	ORPHA:98806
55145	THAP1	HP:0001260	Dysarthria	-	OMIM:602629
55145	THAP1	HP:0001260	Dysarthria	HP:0040282	ORPHA:98806
55145	THAP1	HP:0003829	Typified by incomplete penetrance	-	OMIM:602629
55145	THAP1	HP:0031008	Lingual dystonia	HP:0040283	ORPHA:98806
55145	THAP1	HP:0031008	Lingual dystonia	11/29	OMIM:602629
55145	THAP1	HP:0012048	Oromandibular dystonia	14/29	OMIM:602629
55145	THAP1	HP:0012049	Laryngeal dystonia	HP:0040283	ORPHA:98806
55145	THAP1	HP:0012049	Laryngeal dystonia	11/29	OMIM:602629
55145	THAP1	HP:0001332	Dystonia	HP:0040281	ORPHA:98806
55145	THAP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:602629
55145	THAP1	HP:0001336	Myoclonus	HP:0040283	OMIM:602629
55145	THAP1	HP:0001304	Torsion dystonia	-	OMIM:602629
55145	THAP1	HP:0012179	Craniofacial dystonia	HP:0040283	ORPHA:98806
55145	THAP1	HP:0002356	Writer's cramp	-	OMIM:602629
55145	THAP1	HP:0003621	Juvenile onset	16/28	OMIM:602629
55145	THAP1	HP:0000643	Blepharospasm	HP:0040283	ORPHA:98806
55145	THAP1	HP:0011462	Young adult onset	12/28	OMIM:602629
55145	THAP1	HP:0001618	Dysphonia	-	OMIM:602629
55145	THAP1	HP:0000473	Torticollis	HP:0040283	ORPHA:98806
55145	THAP1	HP:0000473	Torticollis	17/29	OMIM:602629
55148	UBR7	HP:0001250	Seizure	6/7	OMIM:619189
55148	UBR7	HP:0001252	Hypotonia	6/7	OMIM:619189
55148	UBR7	HP:0002579	Gastrointestinal dysmotility	1/7	OMIM:619189
55148	UBR7	HP:0001249	Intellectual disability	7/7	OMIM:619189
55148	UBR7	HP:0001263	Global developmental delay	7/7	OMIM:619189
55148	UBR7	HP:0000054	Micropenis	1/6	OMIM:619189
55148	UBR7	HP:0000028	Cryptorchidism	5/6	OMIM:619189
55148	UBR7	HP:0000007	Autosomal recessive inheritance	-	OMIM:619189
55148	UBR7	HP:0033258	Sudden unexpected death in epilepsy	1/7	OMIM:619189
55148	UBR7	HP:0003577	Congenital onset	-	OMIM:619189
55148	UBR7	HP:0004322	Short stature	5/7	OMIM:619189
55148	UBR7	HP:0003065	Patellar hypoplasia	1/7	OMIM:619189
55148	UBR7	HP:0000821	Hypothyroidism	4/7	OMIM:619189
55148	UBR7	HP:0000998	Hypertrichosis	1/7	OMIM:619189
55148	UBR7	HP:0000954	Single transverse palmar crease	1/7	OMIM:619189
55148	UBR7	HP:0000369	Low-set ears	3/7	OMIM:619189
55148	UBR7	HP:0000343	Long philtrum	2/7	OMIM:619189
55148	UBR7	HP:0000316	Hypertelorism	4/7	OMIM:619189
55148	UBR7	HP:0001643	Patent ductus arteriosus	2/7	OMIM:619189
55148	UBR7	HP:0001655	Patent foramen ovale	1/7	OMIM:619189
55148	UBR7	HP:0001629	Ventricular septal defect	2/7	OMIM:619189
55148	UBR7	HP:0001631	Atrial septal defect	1/7	OMIM:619189
55148	UBR7	HP:0000494	Downslanted palpebral fissures	3/7	OMIM:619189
55148	UBR7	HP:0000506	Telecanthus	1/7	OMIM:619189
55148	UBR7	HP:0000508	Ptosis	5/7	OMIM:619189
55148	UBR7	HP:0011220	Prominent forehead	3/7	OMIM:619189
55148	UBR7	HP:0000574	Thick eyebrow	1/7	OMIM:619189
55149	MTPAP	HP:0002497	Spastic ataxia	-	OMIM:613672
55149	MTPAP	HP:0007240	Progressive gait ataxia	HP:0040282	ORPHA:254343
55149	MTPAP	HP:0001270	Motor delay	HP:0040282	ORPHA:254343
55149	MTPAP	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:254343
55149	MTPAP	HP:0001260	Dysarthria	HP:0040281	ORPHA:254343
55149	MTPAP	HP:0001260	Dysarthria	6/6	OMIM:613672
55149	MTPAP	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:254343
55149	MTPAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:613672
55149	MTPAP	HP:0001336	Myoclonus	HP:0040282	ORPHA:254343
55149	MTPAP	HP:0000182	Movement abnormality of the tongue	HP:0040282	ORPHA:254343
55149	MTPAP	HP:0002066	Gait ataxia	6/6	OMIM:613672
55149	MTPAP	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:254343
55149	MTPAP	HP:0002070	Limb ataxia	4/6	OMIM:613672
55149	MTPAP	HP:0003487	Babinski sign	HP:0040281	ORPHA:254343
55149	MTPAP	HP:0003487	Babinski sign	5/6	OMIM:613672
55149	MTPAP	HP:0003593	Infantile onset	6/6	OMIM:613672
55149	MTPAP	HP:0007083	Hyperactive patellar reflex	5/6	OMIM:613672
55149	MTPAP	HP:0002359	Frequent falls	HP:0040282	ORPHA:254343
55149	MTPAP	HP:0003677	Slowly progressive	-	OMIM:613672
55149	MTPAP	HP:0002313	Spastic paraparesis	-	OMIM:613672
55149	MTPAP	HP:0002313	Spastic paraparesis	HP:0040281	ORPHA:254343
55149	MTPAP	HP:0200049	Upper limb hypertonia	2/6	OMIM:613672
55149	MTPAP	HP:0200049	Upper limb hypertonia	HP:0040282	ORPHA:254343
55149	MTPAP	HP:0009072	Decreased Achilles reflex	4/6	OMIM:613672
55149	MTPAP	HP:0006895	Lower limb hypertonia	4/6	OMIM:613672
55149	MTPAP	HP:0006895	Lower limb hypertonia	HP:0040282	ORPHA:254343
55149	MTPAP	HP:0000639	Nystagmus	2/6	OMIM:613672
55149	MTPAP	HP:0000639	Nystagmus	HP:0040282	ORPHA:254343
55149	MTPAP	HP:0000648	Optic atrophy	HP:0040281	ORPHA:254343
55149	MTPAP	HP:0000648	Optic atrophy	4/4	OMIM:613672
55149	MTPAP	HP:0031936	Delayed ability to walk	1/6	OMIM:613672
55149	MTPAP	HP:0000750	Delayed speech and language development	1/6	OMIM:613672
55149	MTPAP	HP:0000712	Emotional lability	HP:0040283	ORPHA:254343
55149	MTPAP	HP:0000712	Emotional lability	4/6	OMIM:613672
55151	TMEM38B	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55151	TMEM38B	HP:0001293	Cranial nerve compression	-	OMIM:131300
55151	TMEM38B	HP:0001270	Motor delay	2/8	OMIM:615066
55151	TMEM38B	HP:0001256	Intellectual disability, mild	-	OMIM:259770
55151	TMEM38B	HP:0001252	Hypotonia	-	OMIM:259770
55151	TMEM38B	HP:0001252	Hypotonia	2/7	OMIM:615777
55151	TMEM38B	HP:0001249	Intellectual disability	5/7	OMIM:615777
55151	TMEM38B	HP:0001263	Global developmental delay	2/8	OMIM:615066
55151	TMEM38B	HP:0001263	Global developmental delay	1/1	OMIM:612394
55151	TMEM38B	HP:0001263	Global developmental delay	-	OMIM:615777
55151	TMEM38B	HP:0002515	Waddling gait	54/102	OMIM:131300
55151	TMEM38B	HP:0001382	Joint hypermobility	-	OMIM:259770
55151	TMEM38B	HP:0001382	Joint hypermobility	-	OMIM:615777
55151	TMEM38B	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
55151	TMEM38B	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55151	TMEM38B	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55151	TMEM38B	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
55151	TMEM38B	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
55151	TMEM38B	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
55151	TMEM38B	HP:0002659	Increased susceptibility to fractures	-	OMIM:615066
55151	TMEM38B	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55151	TMEM38B	HP:0001324	Muscle weakness	40/96	OMIM:131300
55151	TMEM38B	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55151	TMEM38B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615066
55151	TMEM38B	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
55151	TMEM38B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55151	TMEM38B	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
55151	TMEM38B	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55151	TMEM38B	HP:0002650	Scoliosis	3/11	OMIM:615066
55151	TMEM38B	HP:0002650	Scoliosis	1/5	OMIM:259770
55151	TMEM38B	HP:0002650	Scoliosis	1/1	OMIM:612394
55151	TMEM38B	HP:0002650	Scoliosis	12/14	OMIM:131300
55151	TMEM38B	HP:0002645	Wormian bones	0/3	OMIM:615066
55151	TMEM38B	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55151	TMEM38B	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55151	TMEM38B	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55151	TMEM38B	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55151	TMEM38B	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
55151	TMEM38B	HP:0000175	Cleft palate	2/7	OMIM:615777
55151	TMEM38B	HP:0002757	Recurrent fractures	4/5	OMIM:259770
55151	TMEM38B	HP:0002757	Recurrent fractures	8/9	OMIM:615066
55151	TMEM38B	HP:0002756	Pathologic fracture	-	OMIM:259770
55151	TMEM38B	HP:0002756	Pathologic fracture	1/1	OMIM:612394
55151	TMEM38B	HP:0002753	Thin bony cortex	3/3	OMIM:615066
55151	TMEM38B	HP:0002751	Kyphoscoliosis	-	OMIM:259770
55151	TMEM38B	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
55151	TMEM38B	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
55151	TMEM38B	HP:0003388	Easy fatigability	36/76	OMIM:131300
55151	TMEM38B	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55151	TMEM38B	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
55151	TMEM38B	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
55151	TMEM38B	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
55151	TMEM38B	HP:0002164	Nail dysplasia	1/1	OMIM:612394
55151	TMEM38B	HP:0010557	Overlapping fingers	1/2	OMIM:612394
55151	TMEM38B	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
55151	TMEM38B	HP:0003593	Infantile onset	2/8	OMIM:615066
55151	TMEM38B	HP:0003593	Infantile onset	1/5	OMIM:259770
55151	TMEM38B	HP:0003577	Congenital onset	4/5	OMIM:259770
55151	TMEM38B	HP:0002208	Coarse hair	1/1	OMIM:612394
55151	TMEM38B	HP:0003510	Severe short stature	7/7	OMIM:615777
55151	TMEM38B	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
55151	TMEM38B	HP:0025019	Arterial rupture	1/1	OMIM:612394
55151	TMEM38B	HP:0002315	Headache	-	OMIM:131300
55151	TMEM38B	HP:0004976	Knee dislocation	6/7	OMIM:615777
55151	TMEM38B	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
55151	TMEM38B	HP:0009803	Short phalanx of finger	-	OMIM:615777
55151	TMEM38B	HP:0001089	Iris atrophy	-	OMIM:259770
55151	TMEM38B	HP:0009763	Limb pain	63/92	OMIM:131300
55151	TMEM38B	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
55151	TMEM38B	HP:0003623	Neonatal onset	2/11	OMIM:615066
55151	TMEM38B	HP:0003621	Juvenile onset	-	OMIM:131300
55151	TMEM38B	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
55151	TMEM38B	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55151	TMEM38B	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55151	TMEM38B	HP:6001056	Out-toeing	-	OMIM:131300
55151	TMEM38B	HP:0000651	Diplopia	-	OMIM:131300
55151	TMEM38B	HP:0000618	Blindness	5/5	OMIM:259770
55151	TMEM38B	HP:0001956	Truncal obesity	2/7	OMIM:615777
55151	TMEM38B	HP:0001903	Anemia	HP:0040283	OMIM:131300
55151	TMEM38B	HP:0010049	Short metacarpal	-	OMIM:615777
55151	TMEM38B	HP:0000678	Dental crowding	-	OMIM:615777
55151	TMEM38B	HP:0000670	Carious teeth	-	OMIM:131300
55151	TMEM38B	HP:0011304	Broad thumb	2/7	OMIM:615777
55151	TMEM38B	HP:0000668	Hypodontia	-	OMIM:615777
55151	TMEM38B	HP:0000667	Phthisis bulbi	-	OMIM:259770
55151	TMEM38B	HP:0000664	Synophrys	-	OMIM:615777
55151	TMEM38B	HP:0004322	Short stature	2/11	OMIM:615066
55151	TMEM38B	HP:0004322	Short stature	-	OMIM:259770
55151	TMEM38B	HP:0030674	Antenatal onset	2/8	OMIM:615066
55151	TMEM38B	HP:0004396	Poor appetite	-	OMIM:131300
55151	TMEM38B	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55151	TMEM38B	HP:0004363	Abnormal circulating calcium concentration	0/3	OMIM:615066
55151	TMEM38B	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55151	TMEM38B	HP:0003016	Metaphyseal widening	-	OMIM:259770
55151	TMEM38B	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55151	TMEM38B	HP:0003026	Short long bone	7/7	OMIM:615777
55151	TMEM38B	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55151	TMEM38B	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55151	TMEM38B	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55151	TMEM38B	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55151	TMEM38B	HP:0000750	Delayed speech and language development	-	OMIM:615777
55151	TMEM38B	HP:0000703	Dentinogenesis imperfecta	0/2	OMIM:615066
55151	TMEM38B	HP:0011463	Childhood onset	4/11	OMIM:615066
55151	TMEM38B	HP:0011461	Fetal onset	7/7	OMIM:615777
55151	TMEM38B	HP:0011461	Fetal onset	2/2	OMIM:612394
55151	TMEM38B	HP:0000774	Narrow chest	2/7	OMIM:615777
55151	TMEM38B	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
55151	TMEM38B	HP:0003100	Slender long bone	3/3	OMIM:615066
55151	TMEM38B	HP:0003196	Short nose	1/1	OMIM:612394
55151	TMEM38B	HP:0000926	Platyspondyly	-	OMIM:259770
55151	TMEM38B	HP:0000926	Platyspondyly	1/7	OMIM:615777
55151	TMEM38B	HP:0000926	Platyspondyly	1/1	OMIM:612394
55151	TMEM38B	HP:0003180	Flat acetabular roof	-	OMIM:615777
55151	TMEM38B	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/3	OMIM:615066
55151	TMEM38B	HP:0004482	Relative macrocephaly	-	OMIM:615777
55151	TMEM38B	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55151	TMEM38B	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
55151	TMEM38B	HP:0000823	Delayed puberty	-	OMIM:131300
55151	TMEM38B	HP:0000894	Short clavicles	-	OMIM:615777
55151	TMEM38B	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
55151	TMEM38B	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55151	TMEM38B	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
55151	TMEM38B	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
55151	TMEM38B	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55151	TMEM38B	HP:0000939	Osteoporosis	3/3	OMIM:615066
55151	TMEM38B	HP:0000939	Osteoporosis	4/5	OMIM:259770
55151	TMEM38B	HP:0000938	Osteopenia	8/8	OMIM:615066
55151	TMEM38B	HP:0000938	Osteopenia	1/5	OMIM:259770
55151	TMEM38B	HP:0000938	Osteopenia	1/1	OMIM:612394
55151	TMEM38B	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
55151	TMEM38B	HP:0000286	Epicanthus	1/7	OMIM:615777
55151	TMEM38B	HP:0000280	Coarse facial features	2/7	OMIM:615777
55151	TMEM38B	HP:0000272	Malar flattening	1/1	OMIM:612394
55151	TMEM38B	HP:0007773	Vitreoretinopathy	-	OMIM:259770
55151	TMEM38B	HP:0002827	Hip dislocation	3/7	OMIM:615777
55151	TMEM38B	HP:0002808	Kyphosis	1/5	OMIM:259770
55151	TMEM38B	HP:0000252	Microcephaly	-	OMIM:259770
55151	TMEM38B	HP:0000252	Microcephaly	-	OMIM:615777
55151	TMEM38B	HP:0001552	Barrel-shaped chest	-	OMIM:259770
55151	TMEM38B	HP:0002857	Genu valgum	-	OMIM:131300
55151	TMEM38B	HP:0001533	Slender build	-	OMIM:131300
55151	TMEM38B	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55151	TMEM38B	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
55151	TMEM38B	HP:0007807	Optic nerve compression	-	OMIM:131300
55151	TMEM38B	HP:0012368	Flat face	7/7	OMIM:615777
55151	TMEM38B	HP:0012368	Flat face	1/1	OMIM:612394
55151	TMEM38B	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
55151	TMEM38B	HP:0007875	Congenital blindness	4/5	OMIM:259770
55151	TMEM38B	HP:0007862	Retinal calcification	1/5	OMIM:259770
55151	TMEM38B	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55151	TMEM38B	HP:0000365	Hearing impairment	0/2	OMIM:615066
55151	TMEM38B	HP:0000365	Hearing impairment	10/67	OMIM:131300
55151	TMEM38B	HP:0031425	Increased circulating beta-C-terminal telopeptide concentration	3/3	OMIM:615066
55151	TMEM38B	HP:0000369	Low-set ears	2/2	OMIM:612394
55151	TMEM38B	HP:0000343	Long philtrum	1/7	OMIM:615777
55151	TMEM38B	HP:0011001	Increased bone mineral density	-	OMIM:131300
55151	TMEM38B	HP:0002982	Tibial bowing	1/5	OMIM:259770
55151	TMEM38B	HP:0002980	Femoral bowing	1/1	OMIM:615066
55151	TMEM38B	HP:0000311	Round face	2/7	OMIM:615777
55151	TMEM38B	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
55151	TMEM38B	HP:0001629	Ventricular septal defect	-	OMIM:259770
55151	TMEM38B	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
55151	TMEM38B	HP:0002970	Genu varum	-	OMIM:615777
55151	TMEM38B	HP:0000307	Pointed chin	1/2	OMIM:612394
55151	TMEM38B	HP:0000303	Mandibular prognathia	-	OMIM:131300
55151	TMEM38B	HP:0000407	Sensorineural hearing impairment	2/8	OMIM:615066
55151	TMEM38B	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
55151	TMEM38B	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55151	TMEM38B	HP:0000463	Anteverted nares	1/1	OMIM:612394
55151	TMEM38B	HP:0000470	Short neck	1/7	OMIM:615777
55151	TMEM38B	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55151	TMEM38B	HP:0001763	Pes planus	1/7	OMIM:615777
55151	TMEM38B	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
55151	TMEM38B	HP:0000518	Cataract	1/5	OMIM:259770
55151	TMEM38B	HP:0000518	Cataract	1/1	OMIM:612394
55151	TMEM38B	HP:0001840	Metatarsus adductus	-	OMIM:615777
55151	TMEM38B	HP:0000520	Proptosis	2/4	OMIM:131300
55151	TMEM38B	HP:0000520	Proptosis	7/7	OMIM:615777
55151	TMEM38B	HP:0000592	Blue sclerae	2/7	OMIM:615777
55151	TMEM38B	HP:0000592	Blue sclerae	4/11	OMIM:615066
55151	TMEM38B	HP:0000586	Shallow orbits	1/1	OMIM:612394
55151	TMEM38B	HP:0000568	Microphthalmia	1/5	OMIM:259770
55151	TMEM38B	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55151	TMEM38B	HP:0012514	Lower limb pain	4/4	OMIM:131300
55151	TMEM38B	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
55151	TMEM38B	HP:0000545	Myopia	1/1	OMIM:612394
55152	DALRD3	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0003700	Generalized amyotrophy	2/2	OMIM:618910
55152	DALRD3	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
55152	DALRD3	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
55152	DALRD3	HP:0001290	Generalized hypotonia	2/2	OMIM:618910
55152	DALRD3	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0001250	Seizure	HP:0040282	ORPHA:442835
55152	DALRD3	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
55152	DALRD3	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
55152	DALRD3	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
55152	DALRD3	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
55152	DALRD3	HP:0001332	Dystonia	2/2	OMIM:618910
55152	DALRD3	HP:0001344	Absent speech	2/2	OMIM:618910
55152	DALRD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:618910
55152	DALRD3	HP:0001337	Tremor	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
55152	DALRD3	HP:0003429	CNS hypomyelination	1/2	OMIM:618910
55152	DALRD3	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
55152	DALRD3	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
55152	DALRD3	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
55152	DALRD3	HP:0011344	Severe global developmental delay	2/2	OMIM:618910
55152	DALRD3	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0004322	Short stature	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
55152	DALRD3	HP:0000717	Autism	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0011471	Gastrostomy tube feeding in infancy	1/2	OMIM:618910
55152	DALRD3	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
55152	DALRD3	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0000252	Microcephaly	1/2	OMIM:618910
55152	DALRD3	HP:0001562	Oligohydramnios	2/2	OMIM:618910
55152	DALRD3	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
55152	DALRD3	HP:0001518	Small for gestational age	1/2	OMIM:618910
55152	DALRD3	HP:0000348	High forehead	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0032794	Myoclonic seizure	2/2	OMIM:618910
55152	DALRD3	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
55152	DALRD3	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
55152	DALRD3	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
55152	DALRD3	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
55154	MSTO1	HP:0003737	Mitochondrial myopathy	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0001290	Generalized hypotonia	-	OMIM:617675
55154	MSTO1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0001270	Motor delay	-	OMIM:617675
55154	MSTO1	HP:0001270	Motor delay	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0001288	Gait disturbance	-	OMIM:617675
55154	MSTO1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0001256	Intellectual disability, mild	-	OMIM:617675
55154	MSTO1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0001251	Ataxia	-	OMIM:617675
55154	MSTO1	HP:0001265	Hyporeflexia	-	OMIM:617675
55154	MSTO1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0100887	Abnormality of globe size	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0100874	Thick hair	-	OMIM:617675
55154	MSTO1	HP:0100874	Thick hair	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0002540	Inability to walk	-	OMIM:617675
55154	MSTO1	HP:0012032	Lipoma	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0001324	Muscle weakness	-	OMIM:617675
55154	MSTO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617675
55154	MSTO1	HP:0001337	Tremor	-	OMIM:617675
55154	MSTO1	HP:0001337	Tremor	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617675
55154	MSTO1	HP:0001310	Dysmetria	-	OMIM:617675
55154	MSTO1	HP:0001310	Dysmetria	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0002650	Scoliosis	-	OMIM:617675
55154	MSTO1	HP:0002650	Scoliosis	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0002761	Generalized joint hypermobility	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0002750	Delayed skeletal maturation	-	OMIM:617675
55154	MSTO1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0003326	Myalgia	-	OMIM:617675
55154	MSTO1	HP:0003326	Myalgia	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0003391	Gowers sign	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0002078	Truncal ataxia	-	OMIM:617675
55154	MSTO1	HP:0002075	Dysdiadochokinesis	-	OMIM:617675
55154	MSTO1	HP:0002075	Dysdiadochokinesis	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0002070	Limb ataxia	-	OMIM:617675
55154	MSTO1	HP:0002058	Myopathic facies	-	OMIM:617675
55154	MSTO1	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0003474	Somatic sensory dysfunction	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:617675
55154	MSTO1	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0100753	Schizophrenia	-	OMIM:617675
55154	MSTO1	HP:0100753	Schizophrenia	HP:0040283	ORPHA:502423
55154	MSTO1	HP:0003693	Distal amyotrophy	-	OMIM:617675
55154	MSTO1	HP:0001012	Multiple lipomas	-	OMIM:617675
55154	MSTO1	HP:0000601	Hypotelorism	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0009051	Increased muscle glycogen content	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0004322	Short stature	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0004322	Short stature	-	OMIM:617675
55154	MSTO1	HP:0000767	Pectus excavatum	-	OMIM:617675
55154	MSTO1	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0000739	Anxiety	-	OMIM:617675
55154	MSTO1	HP:0000739	Anxiety	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0000750	Delayed speech and language development	-	OMIM:617675
55154	MSTO1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0000716	Depression	-	OMIM:617675
55154	MSTO1	HP:0000716	Depression	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:502423
55154	MSTO1	HP:0000786	Primary amenorrhea	-	OMIM:617675
55154	MSTO1	HP:0000786	Primary amenorrhea	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0000870	Increased circulating prolactin concentration	-	OMIM:617675
55154	MSTO1	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0000836	Hyperthyroidism	-	OMIM:617675
55154	MSTO1	HP:0000836	Hyperthyroidism	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:617675
55154	MSTO1	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0000980	Pallor	-	OMIM:617675
55154	MSTO1	HP:0000276	Long face	-	OMIM:617675
55154	MSTO1	HP:0000276	Long face	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0012240	Increased intramyocellular lipid droplets	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0000218	High palate	-	OMIM:617675
55154	MSTO1	HP:0000218	High palate	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0001510	Growth delay	-	OMIM:617675
55154	MSTO1	HP:0001510	Growth delay	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0002936	Distal sensory impairment	-	OMIM:617675
55154	MSTO1	HP:0000365	Hearing impairment	-	OMIM:617675
55154	MSTO1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0000347	Micrognathia	-	OMIM:617675
55154	MSTO1	HP:0000347	Micrognathia	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0000303	Mandibular prognathia	-	OMIM:617675
55154	MSTO1	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0001761	Pes cavus	-	OMIM:617675
55154	MSTO1	HP:0001761	Pes cavus	HP:0040282	ORPHA:502423
55154	MSTO1	HP:0000580	Pigmentary retinopathy	-	OMIM:617675
55154	MSTO1	HP:0000580	Pigmentary retinopathy	HP:0040284	ORPHA:502423
55154	MSTO1	HP:0000543	Optic disc pallor	HP:0040284	ORPHA:502423
55157	DARS2	HP:0002497	Spastic ataxia	HP:0040282	ORPHA:137898
55157	DARS2	HP:0002493	Upper motor neuron dysfunction	HP:0040282	ORPHA:137898
55157	DARS2	HP:0002490	Increased CSF lactate	HP:0040283	ORPHA:137898
55157	DARS2	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:137898
55157	DARS2	HP:0001276	Hypertonia	HP:0040284	ORPHA:137898
55157	DARS2	HP:0001272	Cerebellar atrophy	HP:0040284	ORPHA:137898
55157	DARS2	HP:0001271	Polyneuropathy	HP:0040284	ORPHA:137898
55157	DARS2	HP:0001270	Motor delay	HP:0040283	ORPHA:137898
55157	DARS2	HP:0001270	Motor delay	-	OMIM:611105
55157	DARS2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:137898
55157	DARS2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:137898
55157	DARS2	HP:0001250	Seizure	HP:0040284	ORPHA:137898
55157	DARS2	HP:0001252	Hypotonia	HP:0040284	ORPHA:137898
55157	DARS2	HP:0001251	Ataxia	-	OMIM:611105
55157	DARS2	HP:0001249	Intellectual disability	HP:0040284	ORPHA:137898
55157	DARS2	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:137898
55157	DARS2	HP:0001265	Hyporeflexia	-	OMIM:611105
55157	DARS2	HP:0001260	Dysarthria	HP:0040282	ORPHA:137898
55157	DARS2	HP:0001260	Dysarthria	HP:0040283	OMIM:611105
55157	DARS2	HP:0001257	Spasticity	-	OMIM:611105
55157	DARS2	HP:0003828	Variable expressivity	-	OMIM:611105
55157	DARS2	HP:0002505	Loss of ambulation	HP:0040282	ORPHA:137898
55157	DARS2	HP:0001371	Flexion contracture	HP:0040284	ORPHA:137898
55157	DARS2	HP:0001371	Flexion contracture	-	OMIM:611105
55157	DARS2	HP:0001350	Slurred speech	HP:0040284	ORPHA:137898
55157	DARS2	HP:0001347	Hyperreflexia	-	OMIM:611105
55157	DARS2	HP:0001328	Specific learning disability	HP:0040283	ORPHA:137898
55157	DARS2	HP:0001324	Muscle weakness	-	OMIM:611105
55157	DARS2	HP:0001344	Absent speech	HP:0040284	ORPHA:137898
55157	DARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:611105
55157	DARS2	HP:0001337	Tremor	HP:0040282	ORPHA:137898
55157	DARS2	HP:0001337	Tremor	-	OMIM:611105
55157	DARS2	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:137898
55157	DARS2	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:137898
55157	DARS2	HP:0007668	Impaired pursuit initiation and maintenance	HP:0040284	ORPHA:137898
55157	DARS2	HP:0008969	Leg muscle stiffness	HP:0040283	ORPHA:137898
55157	DARS2	HP:0100543	Cognitive impairment	HP:0040283	OMIM:611105
55157	DARS2	HP:0002078	Truncal ataxia	HP:0040284	ORPHA:137898
55157	DARS2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040284	ORPHA:137898
55157	DARS2	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:137898
55157	DARS2	HP:0002059	Cerebral atrophy	HP:0040284	ORPHA:137898
55157	DARS2	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:137898
55157	DARS2	HP:0003477	Peripheral axonal neuropathy	-	OMIM:611105
55157	DARS2	HP:0003487	Babinski sign	HP:0040282	ORPHA:137898
55157	DARS2	HP:0003487	Babinski sign	-	OMIM:611105
55157	DARS2	HP:0002151	Increased circulating lactate concentration	HP:0040283	ORPHA:137898
55157	DARS2	HP:0002191	Progressive spasticity	HP:0040282	ORPHA:137898
55157	DARS2	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040283	ORPHA:137898
55157	DARS2	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:137898
55157	DARS2	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:137898
55157	DARS2	HP:0002352	Leukoencephalopathy	-	OMIM:611105
55157	DARS2	HP:0003677	Slowly progressive	-	OMIM:611105
55157	DARS2	HP:0002317	Unsteady gait	HP:0040282	ORPHA:137898
55157	DARS2	HP:0010794	Impaired visuospatial constructive cognition	HP:0040283	ORPHA:137898
55157	DARS2	HP:0002312	Clumsiness	HP:0040282	ORPHA:137898
55157	DARS2	HP:0006858	Impaired distal proprioception	HP:0040283	ORPHA:137898
55157	DARS2	HP:0011397	Abnormality of the dorsal column of the spinal cord	HP:0040281	ORPHA:137898
55157	DARS2	HP:0000639	Nystagmus	HP:0040284	ORPHA:137898
55157	DARS2	HP:0000639	Nystagmus	-	OMIM:611105
55157	DARS2	HP:0000651	Diplopia	HP:0040284	ORPHA:137898
55157	DARS2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:137898
55157	DARS2	HP:0009055	Generalized limb muscle atrophy	HP:0040284	ORPHA:137898
55157	DARS2	HP:0006978	Dysmyelinating leukodystrophy	HP:0040282	ORPHA:137898
55157	DARS2	HP:0003202	Skeletal muscle atrophy	-	OMIM:611105
55157	DARS2	HP:0000365	Hearing impairment	HP:0040284	ORPHA:137898
55157	DARS2	HP:0005340	Spastic/hyperactive bladder	HP:0040284	ORPHA:137898
55157	DARS2	HP:0000514	Slow saccadic eye movements	HP:0040284	ORPHA:137898
55157	DARS2	HP:0000508	Ptosis	HP:0040284	ORPHA:137898
55159	RFWD3	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
55159	RFWD3	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
55159	RFWD3	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
55159	RFWD3	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
55159	RFWD3	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
55159	RFWD3	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
55159	RFWD3	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
55159	RFWD3	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
55159	RFWD3	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
55159	RFWD3	HP:0002518	Abnormal periventricular white matter morphology	-	OMIM:617784
55159	RFWD3	HP:0000089	Renal hypoplasia	-	OMIM:617784
55159	RFWD3	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
55159	RFWD3	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
55159	RFWD3	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
55159	RFWD3	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
55159	RFWD3	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
55159	RFWD3	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:617784
55159	RFWD3	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
55159	RFWD3	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
55159	RFWD3	HP:0410049	Abnormal radial ray morphology	1/1	OMIM:617784
55159	RFWD3	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
55159	RFWD3	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
55159	RFWD3	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
55159	RFWD3	HP:0011800	Midface retrusion	-	OMIM:617784
55159	RFWD3	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
55159	RFWD3	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
55159	RFWD3	HP:0010469	Absent testis	HP:0040283	ORPHA:84
55159	RFWD3	HP:0002119	Ventriculomegaly	-	OMIM:617784
55159	RFWD3	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
55159	RFWD3	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
55159	RFWD3	HP:0003577	Congenital onset	-	OMIM:617784
55159	RFWD3	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
55159	RFWD3	HP:0002247	Duodenal atresia	1/1	OMIM:617784
55159	RFWD3	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
55159	RFWD3	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
55159	RFWD3	HP:0009777	Absent thumb	1/1	OMIM:617784
55159	RFWD3	HP:0002308	Chiari malformation	1/1	OMIM:617784
55159	RFWD3	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
55159	RFWD3	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
55159	RFWD3	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001903	Anemia	HP:0040281	ORPHA:84
55159	RFWD3	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
55159	RFWD3	HP:0004322	Short stature	HP:0040281	ORPHA:84
55159	RFWD3	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
55159	RFWD3	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
55159	RFWD3	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
55159	RFWD3	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000824	Decreased response to growth hormone stimulation test	1/1	OMIM:617784
55159	RFWD3	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
55159	RFWD3	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
55159	RFWD3	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
55159	RFWD3	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
55159	RFWD3	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
55159	RFWD3	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
55159	RFWD3	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
55159	RFWD3	HP:0000252	Microcephaly	1/1	OMIM:617784
55159	RFWD3	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
55159	RFWD3	HP:0000218	High palate	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
55159	RFWD3	HP:0002863	Myelodysplasia	1/1	OMIM:617784
55159	RFWD3	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001511	Intrauterine growth retardation	-	OMIM:617784
55159	RFWD3	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001510	Growth delay	1/1	OMIM:617784
55159	RFWD3	HP:0001510	Growth delay	HP:0040283	ORPHA:84
55159	RFWD3	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
55159	RFWD3	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
55159	RFWD3	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
55159	RFWD3	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
55159	RFWD3	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
55159	RFWD3	HP:0002984	Hypoplasia of the radius	1/1	OMIM:617784
55159	RFWD3	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
55159	RFWD3	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000486	Strabismus	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001763	Pes planus	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001748	Polysplenia	1/1	OMIM:617784
55159	RFWD3	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000518	Cataract	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000520	Proptosis	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001824	Weight loss	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000508	Ptosis	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
55159	RFWD3	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
55159	RFWD3	HP:0031689	Megakaryocyte dysplasia	1/1	OMIM:617784
55159	RFWD3	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
55159	RFWD3	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
55159	RFWD3	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
55159	RFWD3	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
55163	PNPO	HP:0003785	Decreased CSF homovanillic acid concentration	HP:0040282	ORPHA:79096
55163	PNPO	HP:0003785	Decreased CSF homovanillic acid concentration	-	OMIM:610090
55163	PNPO	HP:0010917	Abnormal circulating tyrosine concentration	HP:0040283	ORPHA:79096
55163	PNPO	HP:0010904	Abnormal circulating histidine concentration	HP:0040283	ORPHA:79096
55163	PNPO	HP:0010900	Abnormal circulating threonine concentration	HP:0040283	ORPHA:79096
55163	PNPO	HP:0010909	Abnormal circulating arginine concentration	HP:0040283	ORPHA:79096
55163	PNPO	HP:0010895	Abnormal circulating glycine concentration	HP:0040283	ORPHA:79096
55163	PNPO	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:79096
55163	PNPO	HP:0001298	Encephalopathy	-	OMIM:610090
55163	PNPO	HP:0001276	Hypertonia	HP:0040282	ORPHA:79096
55163	PNPO	HP:0001276	Hypertonia	-	OMIM:610090
55163	PNPO	HP:0001250	Seizure	HP:0040282	ORPHA:79096
55163	PNPO	HP:0001250	Seizure	-	OMIM:610090
55163	PNPO	HP:0001263	Global developmental delay	HP:0040282	ORPHA:79096
55163	PNPO	HP:0001263	Global developmental delay	-	OMIM:610090
55163	PNPO	HP:0008872	Feeding difficulties in infancy	-	OMIM:610090
55163	PNPO	HP:0000007	Autosomal recessive inheritance	-	OMIM:610090
55163	PNPO	HP:0001336	Myoclonus	HP:0040282	ORPHA:79096
55163	PNPO	HP:0001336	Myoclonus	-	OMIM:610090
55163	PNPO	HP:0025430	High-pitched cry	HP:0040282	ORPHA:79096
55163	PNPO	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:79096
55163	PNPO	HP:0008936	Axial hypotonia	-	OMIM:610090
55163	PNPO	HP:0005961	Hypoargininemia	HP:0040282	ORPHA:79096
55163	PNPO	HP:0030917	Low APGAR score	HP:0040282	ORPHA:79096
55163	PNPO	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:79096
55163	PNPO	HP:0002151	Increased circulating lactate concentration	-	OMIM:610090
55163	PNPO	HP:0002133	Status epilepticus	HP:0040281	ORPHA:79096
55163	PNPO	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:79096
55163	PNPO	HP:0002283	Global brain atrophy	HP:0040282	ORPHA:79096
55163	PNPO	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:79096
55163	PNPO	HP:0002317	Unsteady gait	HP:0040282	ORPHA:79096
55163	PNPO	HP:0002317	Unsteady gait	-	OMIM:610090
55163	PNPO	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040283	ORPHA:79096
55163	PNPO	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:79096
55163	PNPO	HP:0001943	Hypoglycemia	-	OMIM:610090
55163	PNPO	HP:0001942	Metabolic acidosis	HP:0040282	ORPHA:79096
55163	PNPO	HP:0001942	Metabolic acidosis	-	OMIM:610090
55163	PNPO	HP:0001903	Anemia	-	OMIM:610090
55163	PNPO	HP:0000253	Progressive microcephaly	-	OMIM:610090
55163	PNPO	HP:0001583	Rotary nystagmus	-	OMIM:610090
55163	PNPO	HP:0000252	Microcephaly	HP:0040283	ORPHA:79096
55163	PNPO	HP:0001560	Abnormality of the amniotic fluid	HP:0040282	ORPHA:79096
55163	PNPO	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79096
55163	PNPO	HP:0001508	Failure to thrive	-	OMIM:610090
55163	PNPO	HP:0001622	Premature birth	HP:0040282	ORPHA:79096
55163	PNPO	HP:0001622	Premature birth	-	OMIM:610090
55163	PNPO	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:79096
55164	SHQ1	HP:0010852	EEG with photoparoxysmal response	1/2	OMIM:619922
55164	SHQ1	HP:0001276	Hypertonia	HP:0040281	ORPHA:256
55164	SHQ1	HP:0001272	Cerebellar atrophy	1/2	OMIM:619922
55164	SHQ1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:256
55164	SHQ1	HP:0001250	Seizure	3/3	OMIM:619922
55164	SHQ1	HP:0001252	Hypotonia	2/2	OMIM:619922
55164	SHQ1	HP:0001249	Intellectual disability	0/2	OMIM:619921
55164	SHQ1	HP:0001263	Global developmental delay	0/2	OMIM:619921
55164	SHQ1	HP:0001263	Global developmental delay	3/3	OMIM:619922
55164	SHQ1	HP:0002510	Spastic tetraplegia	1/1	OMIM:619922
55164	SHQ1	HP:0001332	Dystonia	2/2	OMIM:619921
55164	SHQ1	HP:0001332	Dystonia	2/2	OMIM:619922
55164	SHQ1	HP:0001344	Absent speech	2/2	OMIM:619922
55164	SHQ1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619921
55164	SHQ1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619922
55164	SHQ1	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:619922
55164	SHQ1	HP:0002019	Constipation	2/2	OMIM:619922
55164	SHQ1	HP:0005968	Temperature instability	2/2	OMIM:619922
55164	SHQ1	HP:0002072	Chorea	2/2	OMIM:619922
55164	SHQ1	HP:0002120	Cerebral cortical atrophy	1/1	OMIM:619922
55164	SHQ1	HP:0002119	Ventriculomegaly	1/1	OMIM:619922
55164	SHQ1	HP:0033258	Sudden unexpected death in epilepsy	1/2	OMIM:619922
55164	SHQ1	HP:0003593	Infantile onset	2/2	OMIM:619921
55164	SHQ1	HP:0003593	Infantile onset	2/2	OMIM:619922
55164	SHQ1	HP:0100716	Self-injurious behavior	2/2	OMIM:619922
55164	SHQ1	HP:0011968	Feeding difficulties	1/1	OMIM:619922
55164	SHQ1	HP:0002305	Athetosis	2/2	OMIM:619922
55164	SHQ1	HP:0034197	Third trimester onset	1/1	OMIM:619922
55164	SHQ1	HP:0003011	Abnormality of the musculature	HP:0040281	ORPHA:256
55164	SHQ1	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:256
55164	SHQ1	HP:0000739	Anxiety	2/2	OMIM:619922
55164	SHQ1	HP:0011461	Fetal onset	1/1	OMIM:619922
55164	SHQ1	HP:0000975	Hyperhidrosis	2/2	OMIM:619922
55164	SHQ1	HP:0001558	Decreased fetal movement	1/1	OMIM:619922
55164	SHQ1	HP:0031358	Vegetative state	1/1	OMIM:619922
55164	SHQ1	HP:0001511	Intrauterine growth retardation	1/1	OMIM:619922
55164	SHQ1	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:256
55165	CEP55	HP:0001156	Brachydactyly	3/3	OMIM:236500
55165	CEP55	HP:0003826	Stillbirth	6/12	OMIM:236500
55165	CEP55	HP:0003811	Neonatal death	2/12	OMIM:236500
55165	CEP55	HP:0000089	Renal hypoplasia	-	OMIM:236500
55165	CEP55	HP:0000007	Autosomal recessive inheritance	-	OMIM:236500
55165	CEP55	HP:0001321	Cerebellar hypoplasia	8/8	OMIM:236500
55165	CEP55	HP:0000110	Renal dysplasia	11/11	OMIM:236500
55165	CEP55	HP:0000107	Renal cyst	-	OMIM:236500
55165	CEP55	HP:0004691	2-3 toe syndactyly	-	OMIM:236500
55165	CEP55	HP:0005989	Redundant neck skin	5/5	OMIM:236500
55165	CEP55	HP:0002009	Potter facies	-	OMIM:236500
55165	CEP55	HP:0002089	Pulmonary hypoplasia	11/11	OMIM:236500
55165	CEP55	HP:0002365	Hypoplasia of the brainstem	-	OMIM:236500
55165	CEP55	HP:0002324	Hydranencephaly	12/12	OMIM:236500
55165	CEP55	HP:0004209	Clinodactyly of the 5th finger	3/3	OMIM:236500
55165	CEP55	HP:0012725	Cutaneous syndactyly	7/7	OMIM:236500
55165	CEP55	HP:4000150	Multinucleated neuron	3/3	OMIM:236500
55165	CEP55	HP:0000954	Single transverse palmar crease	3/3	OMIM:236500
55165	CEP55	HP:0045025	Narrow palpebral fissure	-	OMIM:236500
55165	CEP55	HP:0002804	Arthrogryposis multiplex congenita	12/12	OMIM:236500
55165	CEP55	HP:0001562	Oligohydramnios	11/11	OMIM:236500
55165	CEP55	HP:0000369	Low-set ears	3/3	OMIM:236500
55165	CEP55	HP:0012300	Ureteral agenesis	11/11	OMIM:236500
55165	CEP55	HP:0000308	Microretrognathia	3/3	OMIM:236500
55165	CEP55	HP:0000476	Cystic hygroma	3/3	OMIM:236500
55165	CEP55	HP:0000463	Anteverted nares	-	OMIM:236500
55165	CEP55	HP:0000470	Short neck	-	OMIM:236500
55165	CEP55	HP:0000452	Choanal stenosis	-	OMIM:236500
55165	CEP55	HP:0000418	Narrow nasal ridge	-	OMIM:236500
55165	CEP55	HP:0000414	Bulbous nose	-	OMIM:236500
55165	CEP55	HP:0001762	Talipes equinovarus	3/3	OMIM:236500
55172	DNAAF2	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
55172	DNAAF2	HP:0001217	Clubbing	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0000007	Autosomal recessive inheritance	-	OMIM:612518
55172	DNAAF2	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
55172	DNAAF2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0031245	Productive cough	HP:0040282	ORPHA:244
55172	DNAAF2	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
55172	DNAAF2	HP:0005938	Abnormal respiratory motile cilium morphology	-	OMIM:612518
55172	DNAAF2	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
55172	DNAAF2	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0008222	Female infertility	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
55172	DNAAF2	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
55172	DNAAF2	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
55172	DNAAF2	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
55172	DNAAF2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
55172	DNAAF2	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
55172	DNAAF2	HP:0030828	Wheezing	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0003251	Male infertility	HP:0040282	ORPHA:244
55172	DNAAF2	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
55172	DNAAF2	HP:0012265	Ciliary dyskinesia	-	OMIM:612518
55172	DNAAF2	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
55172	DNAAF2	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
55172	DNAAF2	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
55172	DNAAF2	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
55172	DNAAF2	HP:0000389	Chronic otitis media	3/3	OMIM:612518
55172	DNAAF2	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0001696	Situs inversus totalis	2/3	OMIM:612518
55172	DNAAF2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
55172	DNAAF2	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
55172	DNAAF2	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
55172	DNAAF2	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
55172	DNAAF2	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
55172	DNAAF2	HP:0011109	Chronic sinusitis	3/3	OMIM:612518
55172	DNAAF2	HP:0011108	Recurrent sinusitis	-	OMIM:612518
55172	DNAAF2	HP:0001746	Asplenia	HP:0040284	ORPHA:244
55172	DNAAF2	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
55172	DNAAF2	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
55172	DNAAF2	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
55172	DNAAF2	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
55172	DNAAF2	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
55180	LINS1	HP:0001252	Hypotonia	1/2	OMIM:614340
55180	LINS1	HP:0001249	Intellectual disability	4/4	OMIM:614340
55180	LINS1	HP:0001263	Global developmental delay	2/2	OMIM:614340
55180	LINS1	HP:0001344	Absent speech	2/2	OMIM:614340
55180	LINS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614340
55180	LINS1	HP:0011800	Midface retrusion	2/2	OMIM:614340
55180	LINS1	HP:0003593	Infantile onset	2/2	OMIM:614340
55180	LINS1	HP:0000718	Aggressive behavior	1/2	OMIM:614340
55180	LINS1	HP:0000252	Microcephaly	4/4	OMIM:614340
55180	LINS1	HP:0001508	Failure to thrive	1/2	OMIM:614340
55180	LINS1	HP:0001510	Growth delay	1/2	OMIM:614340
55180	LINS1	HP:0032988	Persistent head lag	1/2	OMIM:614340
55180	LINS1	HP:0005280	Depressed nasal bridge	1/2	OMIM:614340
55181	SMG8	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
55181	SMG8	HP:0001263	Global developmental delay	8/8	OMIM:619268
55181	SMG8	HP:0002500	Abnormal cerebral white matter morphology	3/5	OMIM:619268
55181	SMG8	HP:0000047	Hypospadias	2/5	OMIM:619268
55181	SMG8	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
55181	SMG8	HP:0000007	Autosomal recessive inheritance	-	OMIM:619268
55181	SMG8	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
55181	SMG8	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
55181	SMG8	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
55181	SMG8	HP:0031298	Coronary sinus enlargement	1/9	OMIM:619268
55181	SMG8	HP:0002007	Frontal bossing	1/9	OMIM:619268
55181	SMG8	HP:0011829	Narrow philtrum	1/9	OMIM:619268
55181	SMG8	HP:0002389	Cavum septum pellucidum	1/5	OMIM:619268
55181	SMG8	HP:0004961	Pulmonary artery sling	1/9	OMIM:619268
55181	SMG8	HP:0003621	Juvenile onset	8/19	OMIM:180100
55181	SMG8	HP:0000662	Nyctalopia	26/28	OMIM:180100
55181	SMG8	HP:0000668	Hypodontia	1/9	OMIM:619268
55181	SMG8	HP:0004322	Short stature	6/9	OMIM:619268
55181	SMG8	HP:0000742	Self-mutilation	1/9	OMIM:619268
55181	SMG8	HP:0011463	Childhood onset	3/19	OMIM:180100
55181	SMG8	HP:0011462	Young adult onset	8/19	OMIM:180100
55181	SMG8	HP:0000958	Dry skin	2/9	OMIM:619268
55181	SMG8	HP:0000953	Hyperpigmentation of the skin	2/9	OMIM:619268
55181	SMG8	HP:0000964	Eczematoid dermatitis	1/9	OMIM:619268
55181	SMG8	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
55181	SMG8	HP:0000252	Microcephaly	7/9	OMIM:619268
55181	SMG8	HP:0030051	Tip-toe gait	3/9	OMIM:619268
55181	SMG8	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
55181	SMG8	HP:0000365	Hearing impairment	3/9	OMIM:619268
55181	SMG8	HP:0000358	Posteriorly rotated ears	1/9	OMIM:619268
55181	SMG8	HP:0000369	Low-set ears	1/9	OMIM:619268
55181	SMG8	HP:0000343	Long philtrum	1/9	OMIM:619268
55181	SMG8	HP:0000347	Micrognathia	1/9	OMIM:619268
55181	SMG8	HP:0000319	Smooth philtrum	1/9	OMIM:619268
55181	SMG8	HP:0001655	Patent foramen ovale	1/9	OMIM:619268
55181	SMG8	HP:0001629	Ventricular septal defect	3/9	OMIM:619268
55181	SMG8	HP:0001631	Atrial septal defect	1/9	OMIM:619268
55181	SMG8	HP:0005301	Persistent left superior vena cava	1/9	OMIM:619268
55181	SMG8	HP:0000400	Macrotia	2/9	OMIM:619268
55181	SMG8	HP:0000483	Astigmatism	1/9	OMIM:619268
55181	SMG8	HP:0000486	Strabismus	2/8	OMIM:619268
55181	SMG8	HP:0012471	Thick vermilion border	1/9	OMIM:619268
55181	SMG8	HP:0012444	Brain atrophy	1/6	OMIM:619268
55181	SMG8	HP:0000448	Prominent nose	1/9	OMIM:619268
55181	SMG8	HP:0000414	Bulbous nose	2/9	OMIM:619268
55181	SMG8	HP:0000518	Cataract	3/8	OMIM:619268
55181	SMG8	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
55181	SMG8	HP:0000575	Scotoma	5/18	OMIM:180100
55181	SMG8	HP:0000543	Optic disc pallor	1/1	OMIM:180100
55181	SMG8	HP:0000543	Optic disc pallor	1/9	OMIM:619268
55181	SMG8	HP:0000545	Myopia	-	OMIM:180100
55182	RNF220	HP:0001270	Motor delay	5/9	OMIM:619688
55182	RNF220	HP:0001250	Seizure	1/9	OMIM:619688
55182	RNF220	HP:0001251	Ataxia	9/9	OMIM:619688
55182	RNF220	HP:0001249	Intellectual disability	5/9	OMIM:619688
55182	RNF220	HP:0001260	Dysarthria	9/9	OMIM:619688
55182	RNF220	HP:0001258	Spastic paraplegia	9/9	OMIM:619688
55182	RNF220	HP:0001347	Hyperreflexia	8/8	OMIM:619688
55182	RNF220	HP:0033725	Thin corpus callosum	9/9	OMIM:619688
55182	RNF220	HP:0000007	Autosomal recessive inheritance	-	OMIM:619688
55182	RNF220	HP:0003477	Peripheral axonal neuropathy	4/9	OMIM:619688
55182	RNF220	HP:0003429	CNS hypomyelination	9/9	OMIM:619688
55182	RNF220	HP:0011463	Childhood onset	4/4	OMIM:619688
55182	RNF220	HP:0002910	Elevated circulating hepatic transaminase concentration	8/8	OMIM:619688
55182	RNF220	HP:0001644	Dilated cardiomyopathy	9/9	OMIM:619688
55182	RNF220	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:619688
55186	SLC25A36	HP:0002474	Expressive language delay	1/1	OMIM:620211
55186	SLC25A36	HP:0001256	Intellectual disability, mild	1/1	OMIM:620211
55186	SLC25A36	HP:0001263	Global developmental delay	1/1	OMIM:620211
55186	SLC25A36	HP:0000007	Autosomal recessive inheritance	-	OMIM:620211
55186	SLC25A36	HP:0002173	Hypoglycemic seizures	3/3	OMIM:620211
55186	SLC25A36	HP:0003593	Infantile onset	3/3	OMIM:620211
55186	SLC25A36	HP:0007018	Attention deficit hyperactivity disorder	1/1	OMIM:620211
55186	SLC25A36	HP:0001943	Hypoglycemia	3/3	OMIM:620211
55186	SLC25A36	HP:0001987	Hyperammonemia	3/3	OMIM:620211
55186	SLC25A36	HP:0004322	Short stature	1/2	OMIM:620211
55186	SLC25A36	HP:0003124	Hypercholesterolemia	1/1	OMIM:620211
55186	SLC25A36	HP:0030796	Increased C-peptide level	1/2	OMIM:620211
55186	SLC25A36	HP:0000842	Hyperinsulinemia	1/1	OMIM:620211
55186	SLC25A36	HP:0000821	Hypothyroidism	1/1	OMIM:620211
55186	SLC25A36	HP:0001510	Growth delay	1/1	OMIM:620211
55186	SLC25A36	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1/1	OMIM:620211
55186	SLC25A36	HP:0001631	Atrial septal defect	1/1	OMIM:620211
55186	SLC25A36	HP:0012450	Chronic constipation	1/1	OMIM:620211
55187	VPS13D	HP:0002493	Upper motor neuron dysfunction	HP:0040281	ORPHA:95434
55187	VPS13D	HP:0002460	Distal muscle weakness	-	OMIM:607317
55187	VPS13D	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:95434
55187	VPS13D	HP:0007256	Abnormal pyramidal sign	10/12	OMIM:607317
55187	VPS13D	HP:0001272	Cerebellar atrophy	7/12	OMIM:607317
55187	VPS13D	HP:0001270	Motor delay	3/12	OMIM:607317
55187	VPS13D	HP:0001256	Intellectual disability, mild	1/12	OMIM:607317
55187	VPS13D	HP:0001250	Seizure	1/12	OMIM:607317
55187	VPS13D	HP:0001251	Ataxia	10/12	OMIM:607317
55187	VPS13D	HP:0001260	Dysarthria	HP:0040282	ORPHA:95434
55187	VPS13D	HP:0001260	Dysarthria	8/11	OMIM:607317
55187	VPS13D	HP:0001257	Spasticity	3/6	OMIM:607317
55187	VPS13D	HP:0007340	Lower limb muscle weakness	6/11	OMIM:607317
55187	VPS13D	HP:0007338	Hypermetric saccades	-	OMIM:607317
55187	VPS13D	HP:0007338	Hypermetric saccades	HP:0040282	ORPHA:95434
55187	VPS13D	HP:0002500	Abnormal cerebral white matter morphology	HP:0040284	OMIM:607317
55187	VPS13D	HP:0001347	Hyperreflexia	-	OMIM:607317
55187	VPS13D	HP:0001332	Dystonia	-	OMIM:607317
55187	VPS13D	HP:0000007	Autosomal recessive inheritance	-	OMIM:607317
55187	VPS13D	HP:0001337	Tremor	-	OMIM:607317
55187	VPS13D	HP:0001336	Myoclonus	HP:0040283	ORPHA:95434
55187	VPS13D	HP:0001336	Myoclonus	5/12	OMIM:607317
55187	VPS13D	HP:0008936	Axial hypotonia	-	OMIM:607317
55187	VPS13D	HP:0025404	Abnormal visual fixation	HP:0040281	ORPHA:95434
55187	VPS13D	HP:0002066	Gait ataxia	HP:0040281	ORPHA:95434
55187	VPS13D	HP:0002066	Gait ataxia	8/9	OMIM:607317
55187	VPS13D	HP:0002078	Truncal ataxia	HP:0040281	ORPHA:95434
55187	VPS13D	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:95434
55187	VPS13D	HP:0002070	Limb ataxia	HP:0040281	ORPHA:95434
55187	VPS13D	HP:0003477	Peripheral axonal neuropathy	-	OMIM:607317
55187	VPS13D	HP:0003474	Somatic sensory dysfunction	HP:0040281	ORPHA:95434
55187	VPS13D	HP:0003487	Babinski sign	-	OMIM:607317
55187	VPS13D	HP:0010522	Dyslexia	HP:0040282	ORPHA:95434
55187	VPS13D	HP:0003593	Infantile onset	2/12	OMIM:607317
55187	VPS13D	HP:0002380	Fasciculations	-	OMIM:607317
55187	VPS13D	HP:0002380	Fasciculations	HP:0040282	ORPHA:95434
55187	VPS13D	HP:0002366	Abnormal lower motor neuron morphology	HP:0040281	ORPHA:95434
55187	VPS13D	HP:0003693	Distal amyotrophy	-	OMIM:607317
55187	VPS13D	HP:0002359	Frequent falls	-	OMIM:607317
55187	VPS13D	HP:0002317	Unsteady gait	HP:0040282	ORPHA:95434
55187	VPS13D	HP:0010831	Impaired proprioception	HP:0040282	ORPHA:95434
55187	VPS13D	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:95434
55187	VPS13D	HP:0032105	Macrosaccadic oscillations	3/12	OMIM:607317
55187	VPS13D	HP:0000640	Gaze-evoked nystagmus	1/12	OMIM:607317
55187	VPS13D	HP:0011463	Childhood onset	2/12	OMIM:607317
55187	VPS13D	HP:0011462	Young adult onset	8/12	OMIM:607317
55187	VPS13D	HP:0033051	Impaired executive functioning	1/12	OMIM:607317
55187	VPS13D	HP:0000252	Microcephaly	HP:0040284	OMIM:607317
55187	VPS13D	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:95434
55187	VPS13D	HP:0000473	Torticollis	1/12	OMIM:607317
55187	VPS13D	HP:0001761	Pes cavus	HP:0040282	ORPHA:95434
55187	VPS13D	HP:0001761	Pes cavus	-	OMIM:607317
55187	VPS13D	HP:0000570	Abnormal saccadic eye movements	HP:0040282	ORPHA:95434
55191	NADSYN1	HP:0010958	Bilateral renal agenesis	1/5	OMIM:618845
55191	NADSYN1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55191	NADSYN1	HP:0001293	Cranial nerve compression	-	OMIM:131300
55191	NADSYN1	HP:0001252	Hypotonia	2/7	OMIM:615777
55191	NADSYN1	HP:0001249	Intellectual disability	5/7	OMIM:615777
55191	NADSYN1	HP:0001263	Global developmental delay	-	OMIM:615777
55191	NADSYN1	HP:0002515	Waddling gait	54/102	OMIM:131300
55191	NADSYN1	HP:0001382	Joint hypermobility	-	OMIM:615777
55191	NADSYN1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55191	NADSYN1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55191	NADSYN1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55191	NADSYN1	HP:0001324	Muscle weakness	40/96	OMIM:131300
55191	NADSYN1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55191	NADSYN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55191	NADSYN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618845
55191	NADSYN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55191	NADSYN1	HP:0002650	Scoliosis	12/14	OMIM:131300
55191	NADSYN1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55191	NADSYN1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55191	NADSYN1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55191	NADSYN1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55191	NADSYN1	HP:0000175	Cleft palate	2/7	OMIM:615777
55191	NADSYN1	HP:0000122	Unilateral renal agenesis	1/5	OMIM:618845
55191	NADSYN1	HP:0005999	Ureteral atresia	1/5	OMIM:618845
55191	NADSYN1	HP:0003388	Easy fatigability	36/76	OMIM:131300
55191	NADSYN1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55191	NADSYN1	HP:0003422	Vertebral segmentation defect	-	OMIM:618845
55191	NADSYN1	HP:0003510	Severe short stature	7/7	OMIM:615777
55191	NADSYN1	HP:0002315	Headache	-	OMIM:131300
55191	NADSYN1	HP:0004976	Knee dislocation	6/7	OMIM:615777
55191	NADSYN1	HP:0009803	Short phalanx of finger	-	OMIM:615777
55191	NADSYN1	HP:0009763	Limb pain	63/92	OMIM:131300
55191	NADSYN1	HP:0003621	Juvenile onset	-	OMIM:131300
55191	NADSYN1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55191	NADSYN1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55191	NADSYN1	HP:6001056	Out-toeing	-	OMIM:131300
55191	NADSYN1	HP:0000651	Diplopia	-	OMIM:131300
55191	NADSYN1	HP:0001956	Truncal obesity	2/7	OMIM:615777
55191	NADSYN1	HP:0001903	Anemia	HP:0040283	OMIM:131300
55191	NADSYN1	HP:0010049	Short metacarpal	-	OMIM:615777
55191	NADSYN1	HP:0000678	Dental crowding	-	OMIM:615777
55191	NADSYN1	HP:0000670	Carious teeth	-	OMIM:131300
55191	NADSYN1	HP:0011304	Broad thumb	2/7	OMIM:615777
55191	NADSYN1	HP:0000668	Hypodontia	-	OMIM:615777
55191	NADSYN1	HP:0000664	Synophrys	-	OMIM:615777
55191	NADSYN1	HP:0004383	Hypoplastic left heart	1/3	OMIM:618845
55191	NADSYN1	HP:0004396	Poor appetite	-	OMIM:131300
55191	NADSYN1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55191	NADSYN1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55191	NADSYN1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55191	NADSYN1	HP:0003026	Short long bone	7/7	OMIM:615777
55191	NADSYN1	HP:0003026	Short long bone	-	OMIM:618845
55191	NADSYN1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55191	NADSYN1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55191	NADSYN1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55191	NADSYN1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55191	NADSYN1	HP:0000750	Delayed speech and language development	-	OMIM:615777
55191	NADSYN1	HP:0011461	Fetal onset	7/7	OMIM:615777
55191	NADSYN1	HP:0000774	Narrow chest	2/7	OMIM:615777
55191	NADSYN1	HP:0000926	Platyspondyly	1/7	OMIM:615777
55191	NADSYN1	HP:0003180	Flat acetabular roof	-	OMIM:615777
55191	NADSYN1	HP:0004482	Relative macrocephaly	-	OMIM:615777
55191	NADSYN1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55191	NADSYN1	HP:0000823	Delayed puberty	-	OMIM:131300
55191	NADSYN1	HP:0000894	Short clavicles	-	OMIM:615777
55191	NADSYN1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55191	NADSYN1	HP:0011638	Anomalous origin of left coronary artery from the pulmonary artery	1/3	OMIM:618845
55191	NADSYN1	HP:0010306	Short thorax	-	OMIM:618845
55191	NADSYN1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55191	NADSYN1	HP:0000960	Sacral dimple	2/5	OMIM:618845
55191	NADSYN1	HP:0000286	Epicanthus	1/7	OMIM:615777
55191	NADSYN1	HP:0000280	Coarse facial features	2/7	OMIM:615777
55191	NADSYN1	HP:0002827	Hip dislocation	3/7	OMIM:615777
55191	NADSYN1	HP:0000252	Microcephaly	-	OMIM:615777
55191	NADSYN1	HP:0002857	Genu valgum	-	OMIM:131300
55191	NADSYN1	HP:0001522	Death in infancy	-	OMIM:618845
55191	NADSYN1	HP:0001533	Slender build	-	OMIM:131300
55191	NADSYN1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55191	NADSYN1	HP:0007807	Optic nerve compression	-	OMIM:131300
55191	NADSYN1	HP:0012368	Flat face	7/7	OMIM:615777
55191	NADSYN1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55191	NADSYN1	HP:0002948	Vertebral fusion	-	OMIM:618845
55191	NADSYN1	HP:0000365	Hearing impairment	10/67	OMIM:131300
55191	NADSYN1	HP:0000343	Long philtrum	1/7	OMIM:615777
55191	NADSYN1	HP:0011001	Increased bone mineral density	-	OMIM:131300
55191	NADSYN1	HP:0001647	Bicuspid aortic valve	1/3	OMIM:618845
55191	NADSYN1	HP:0001643	Patent ductus arteriosus	1/3	OMIM:618845
55191	NADSYN1	HP:0000311	Round face	2/7	OMIM:615777
55191	NADSYN1	HP:0002970	Genu varum	-	OMIM:615777
55191	NADSYN1	HP:0000303	Mandibular prognathia	-	OMIM:131300
55191	NADSYN1	HP:0001719	Double outlet right ventricle	1/3	OMIM:618845
55191	NADSYN1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55191	NADSYN1	HP:0000470	Short neck	1/7	OMIM:615777
55191	NADSYN1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55191	NADSYN1	HP:0001763	Pes planus	1/7	OMIM:615777
55191	NADSYN1	HP:0001762	Talipes equinovarus	1/5	OMIM:618845
55191	NADSYN1	HP:0001840	Metatarsus adductus	-	OMIM:615777
55191	NADSYN1	HP:0000520	Proptosis	2/4	OMIM:131300
55191	NADSYN1	HP:0000520	Proptosis	7/7	OMIM:615777
55191	NADSYN1	HP:0000592	Blue sclerae	2/7	OMIM:615777
55191	NADSYN1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55191	NADSYN1	HP:0012514	Lower limb pain	4/4	OMIM:131300
55193	PBRM1	HP:0003745	Sporadic	-	OMIM:144700
55193	PBRM1	HP:0005584	Renal cell carcinoma	-	OMIM:144700
55209	SETD5	HP:0001182	Tapered finger	HP:0040283	ORPHA:435638
55209	SETD5	HP:0001270	Motor delay	HP:0040281	ORPHA:435638
55209	SETD5	HP:0001252	Hypotonia	HP:0040282	ORPHA:435638
55209	SETD5	HP:0001251	Ataxia	HP:0040283	ORPHA:435638
55209	SETD5	HP:0001249	Intellectual disability	7/7	OMIM:615761
55209	SETD5	HP:0001263	Global developmental delay	7/7	OMIM:615761
55209	SETD5	HP:0001233	2-3 finger cutaneous syndactyly	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000047	Hypospadias	-	OMIM:615761
55209	SETD5	HP:0001344	Absent speech	HP:0040282	ORPHA:435638
55209	SETD5	HP:0000006	Autosomal dominant inheritance	-	OMIM:615761
55209	SETD5	HP:0002650	Scoliosis	HP:0040283	ORPHA:435638
55209	SETD5	HP:0002650	Scoliosis	-	OMIM:615761
55209	SETD5	HP:0000175	Cleft palate	HP:0040283	ORPHA:435638
55209	SETD5	HP:0002705	High, narrow palate	HP:0040283	ORPHA:435638
55209	SETD5	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:435638
55209	SETD5	HP:0002714	Downturned corners of mouth	2/2	OMIM:615761
55209	SETD5	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:435638
55209	SETD5	HP:0002002	Deep philtrum	HP:0040282	ORPHA:435638
55209	SETD5	HP:0003307	Hyperlordosis	2/7	OMIM:615761
55209	SETD5	HP:0100559	Lower limb asymmetry	2/7	OMIM:615761
55209	SETD5	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:435638
55209	SETD5	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:435638
55209	SETD5	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:435638
55209	SETD5	HP:0009623	Proximal placement of thumb	HP:0040283	ORPHA:435638
55209	SETD5	HP:0003593	Infantile onset	2/2	OMIM:615761
55209	SETD5	HP:0010663	Abnormal thalamus morphology	HP:0040283	ORPHA:435638
55209	SETD5	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:435638
55209	SETD5	HP:0011968	Feeding difficulties	5/7	OMIM:615761
55209	SETD5	HP:0009836	Broad distal phalanx of finger	1/2	OMIM:615761
55209	SETD5	HP:0002307	Drooling	3/7	OMIM:615761
55209	SETD5	HP:0010055	Broad hallux	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000678	Dental crowding	3/7	OMIM:615761
55209	SETD5	HP:0011304	Broad thumb	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000664	Synophrys	5/7	OMIM:615761
55209	SETD5	HP:0003086	Acromesomelia	HP:0040283	ORPHA:435638
55209	SETD5	HP:0031936	Delayed ability to walk	2/2	OMIM:615761
55209	SETD5	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:435638
55209	SETD5	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:435638
55209	SETD5	HP:0000750	Delayed speech and language development	8/9	OMIM:615761
55209	SETD5	HP:0000729	Autistic behavior	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000729	Autistic behavior	5/7	OMIM:615761
55209	SETD5	HP:0000722	Compulsive behaviors	3/7	OMIM:615761
55209	SETD5	HP:0012762	Cerebral white matter atrophy	HP:0040283	ORPHA:435638
55209	SETD5	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:435638
55209	SETD5	HP:0100259	Postaxial polydactyly	1/7	OMIM:615761
55209	SETD5	HP:0100259	Postaxial polydactyly	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000960	Sacral dimple	2/7	OMIM:615761
55209	SETD5	HP:0000960	Sacral dimple	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000286	Epicanthus	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000294	Low anterior hairline	2/2	OMIM:615761
55209	SETD5	HP:0002808	Kyphosis	-	OMIM:615761
55209	SETD5	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000248	Brachycephaly	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000248	Brachycephaly	3/7	OMIM:615761
55209	SETD5	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000219	Thin upper lip vermilion	5/7	OMIM:615761
55209	SETD5	HP:0006585	Congenital pseudoarthrosis of the clavicle	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000356	Abnormality of the outer ear	HP:0040282	ORPHA:435638
55209	SETD5	HP:0000369	Low-set ears	5/7	OMIM:615761
55209	SETD5	HP:0000341	Narrow forehead	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000343	Long philtrum	2/2	OMIM:615761
55209	SETD5	HP:0000348	High forehead	1/7	OMIM:615761
55209	SETD5	HP:0000347	Micrognathia	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000347	Micrognathia	3/7	OMIM:615761
55209	SETD5	HP:0001677	Coronary artery atherosclerosis	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000319	Smooth philtrum	-	OMIM:615761
55209	SETD5	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:435638
55209	SETD5	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000322	Short philtrum	HP:0040283	ORPHA:435638
55209	SETD5	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:435638
55209	SETD5	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:435638
55209	SETD5	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:435638
55209	SETD5	HP:0005280	Depressed nasal bridge	3/7	OMIM:615761
55209	SETD5	HP:0000483	Astigmatism	1/2	OMIM:615761
55209	SETD5	HP:0000486	Strabismus	1/7	OMIM:615761
55209	SETD5	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:435638
55209	SETD5	HP:0000494	Downslanted palpebral fissures	2/9	OMIM:615761
55209	SETD5	HP:0000463	Anteverted nares	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000463	Anteverted nares	4/9	OMIM:615761
55209	SETD5	HP:0000448	Prominent nose	HP:0040282	ORPHA:435638
55209	SETD5	HP:0000414	Bulbous nose	2/2	OMIM:615761
55209	SETD5	HP:0000431	Wide nasal bridge	2/2	OMIM:615761
55209	SETD5	HP:0001845	Overlapping toe	HP:0040283	ORPHA:435638
55209	SETD5	HP:0001852	Sandal gap	1/2	OMIM:615761
55209	SETD5	HP:0000508	Ptosis	1/7	OMIM:615761
55209	SETD5	HP:0000582	Upslanted palpebral fissure	5/7	OMIM:615761
55209	SETD5	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000568	Microphthalmia	HP:0040283	ORPHA:435638
55209	SETD5	HP:0000545	Myopia	1/2	OMIM:615761
55210	ATAD3A	HP:0025116	Fetal distress	12/18	OMIM:618810
55210	ATAD3A	HP:0002465	Poor speech	HP:0040282	ORPHA:496790
55210	ATAD3A	HP:0007210	Lower limb amyotrophy	HP:0040282	ORPHA:496790
55210	ATAD3A	HP:0001298	Encephalopathy	26/26	OMIM:618810
55210	ATAD3A	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0001272	Cerebellar atrophy	3/8	OMIM:617183
55210	ATAD3A	HP:0001250	Seizure	HP:0040284	ORPHA:496790
55210	ATAD3A	HP:0001250	Seizure	10/21	OMIM:618810
55210	ATAD3A	HP:0001252	Hypotonia	8/8	OMIM:617183
55210	ATAD3A	HP:0001252	Hypotonia	16/16	OMIM:618810
55210	ATAD3A	HP:0001251	Ataxia	-	OMIM:617183
55210	ATAD3A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:496790
55210	ATAD3A	HP:0001249	Intellectual disability	6/7	OMIM:617183
55210	ATAD3A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:496790
55210	ATAD3A	HP:0001263	Global developmental delay	7/7	OMIM:617183
55210	ATAD3A	HP:0001263	Global developmental delay	-	OMIM:618810
55210	ATAD3A	HP:0001257	Spasticity	HP:0040282	ORPHA:496790
55210	ATAD3A	HP:0001257	Spasticity	5/8	OMIM:617183
55210	ATAD3A	HP:0001257	Spasticity	5/5	OMIM:618810
55210	ATAD3A	HP:0002540	Inability to walk	-	OMIM:617183
55210	ATAD3A	HP:0003811	Neonatal death	15/26	OMIM:618810
55210	ATAD3A	HP:0000054	Micropenis	-	OMIM:618810
55210	ATAD3A	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0001385	Hip dysplasia	1/8	OMIM:617183
55210	ATAD3A	HP:0000034	Hydrocele testis	-	OMIM:618810
55210	ATAD3A	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0008872	Feeding difficulties in infancy	4/6	OMIM:618810
55210	ATAD3A	HP:0001332	Dystonia	1/8	OMIM:617183
55210	ATAD3A	HP:0000007	Autosomal recessive inheritance	-	OMIM:618810
55210	ATAD3A	HP:0000007	Autosomal recessive inheritance	-	OMIM:617183
55210	ATAD3A	HP:0000006	Autosomal dominant inheritance	-	OMIM:617183
55210	ATAD3A	HP:0002650	Scoliosis	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0002650	Scoliosis	1/8	OMIM:617183
55210	ATAD3A	HP:0001321	Cerebellar hypoplasia	17/24	OMIM:618810
55210	ATAD3A	HP:0000160	Narrow mouth	-	OMIM:618810
55210	ATAD3A	HP:0008936	Axial hypotonia	HP:0040281	ORPHA:496790
55210	ATAD3A	HP:0008936	Axial hypotonia	-	OMIM:617183
55210	ATAD3A	HP:0002007	Frontal bossing	1/8	OMIM:617183
55210	ATAD3A	HP:0002066	Gait ataxia	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0002064	Spastic gait	HP:0040282	ORPHA:496790
55210	ATAD3A	HP:0003477	Peripheral axonal neuropathy	5/7	OMIM:618810
55210	ATAD3A	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:496790
55210	ATAD3A	HP:0003477	Peripheral axonal neuropathy	5/7	OMIM:617183
55210	ATAD3A	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:496790
55210	ATAD3A	HP:0002151	Increased circulating lactate concentration	17/19	OMIM:618810
55210	ATAD3A	HP:0002151	Increased circulating lactate concentration	4/5	OMIM:617183
55210	ATAD3A	HP:0002121	Generalized non-motor (absence) seizure	2/8	OMIM:617183
55210	ATAD3A	HP:0003593	Infantile onset	-	OMIM:617183
55210	ATAD3A	HP:0002240	Hepatomegaly	4/4	OMIM:618810
55210	ATAD3A	HP:0003535	3-Methylglutaconic aciduria	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0002299	Brittle hair	6/11	OMIM:618810
55210	ATAD3A	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0011968	Feeding difficulties	3/8	OMIM:617183
55210	ATAD3A	HP:0003693	Distal amyotrophy	1/8	OMIM:617183
55210	ATAD3A	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0000639	Nystagmus	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0000639	Nystagmus	1/8	OMIM:617183
55210	ATAD3A	HP:0000648	Optic atrophy	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0000648	Optic atrophy	3/8	OMIM:617183
55210	ATAD3A	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0005656	Positional foot deformity	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0006989	Dysplastic corpus callosum	-	OMIM:618810
55210	ATAD3A	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0000768	Pectus carinatum	2/8	OMIM:617183
55210	ATAD3A	HP:0000750	Delayed speech and language development	3/8	OMIM:617183
55210	ATAD3A	HP:0012708	Reduced brain N-acetyl aspartate level by MRS	2/3	OMIM:617183
55210	ATAD3A	HP:0003196	Short nose	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0003196	Short nose	1/8	OMIM:617183
55210	ATAD3A	HP:0003146	Hypocholesterolemia	2/2	OMIM:618810
55210	ATAD3A	HP:0000823	Delayed puberty	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0045075	Sparse eyebrow	-	OMIM:618810
55210	ATAD3A	HP:0000276	Long face	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0000276	Long face	2/8	OMIM:617183
55210	ATAD3A	HP:0001561	Polyhydramnios	12/18	OMIM:618810
55210	ATAD3A	HP:0000348	High forehead	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0000348	High forehead	2/8	OMIM:617183
55210	ATAD3A	HP:0000347	Micrognathia	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0000347	Micrognathia	2/8	OMIM:617183
55210	ATAD3A	HP:0000347	Micrognathia	-	OMIM:618810
55210	ATAD3A	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0001639	Hypertrophic cardiomyopathy	8/15	OMIM:618810
55210	ATAD3A	HP:0001639	Hypertrophic cardiomyopathy	3/8	OMIM:617183
55210	ATAD3A	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0000303	Mandibular prognathia	2/8	OMIM:617183
55210	ATAD3A	HP:0007957	Corneal opacity	HP:0040284	ORPHA:496790
55210	ATAD3A	HP:0007957	Corneal opacity	1/8	OMIM:617183
55210	ATAD3A	HP:0000490	Deeply set eye	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0000490	Deeply set eye	2/8	OMIM:617183
55210	ATAD3A	HP:0000463	Anteverted nares	-	OMIM:618810
55210	ATAD3A	HP:0001772	Talipes equinovalgus	1/8	OMIM:617183
55210	ATAD3A	HP:0000431	Wide nasal bridge	-	OMIM:618810
55210	ATAD3A	HP:0000518	Cataract	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0000519	Developmental cataract	-	OMIM:618810
55210	ATAD3A	HP:0000519	Developmental cataract	2/8	OMIM:617183
55210	ATAD3A	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0000582	Upslanted palpebral fissure	1/8	OMIM:617183
55210	ATAD3A	HP:0000565	Esotropia	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0000565	Esotropia	3/8	OMIM:617183
55210	ATAD3A	HP:0000545	Myopia	HP:0040283	ORPHA:496790
55210	ATAD3A	HP:0000545	Myopia	4/8	OMIM:617183
55212	BBS7	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
55212	BBS7	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
55212	BBS7	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
55212	BBS7	HP:0001250	Seizure	HP:0040283	ORPHA:110
55212	BBS7	HP:0001251	Ataxia	HP:0040283	ORPHA:110
55212	BBS7	HP:0001249	Intellectual disability	6/6	OMIM:615984
55212	BBS7	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
55212	BBS7	HP:0001257	Spasticity	HP:0040283	ORPHA:110
55212	BBS7	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
55212	BBS7	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
55212	BBS7	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
55212	BBS7	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
55212	BBS7	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
55212	BBS7	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
55212	BBS7	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
55212	BBS7	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
55212	BBS7	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
55212	BBS7	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
55212	BBS7	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
55212	BBS7	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
55212	BBS7	HP:0000007	Autosomal recessive inheritance	-	OMIM:615984
55212	BBS7	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
55212	BBS7	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
55212	BBS7	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
55212	BBS7	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
55212	BBS7	HP:0000160	Narrow mouth	2/2	OMIM:615984
55212	BBS7	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
55212	BBS7	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
55212	BBS7	HP:0000135	Hypogonadism	5/5	OMIM:615984
55212	BBS7	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
55212	BBS7	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
55212	BBS7	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
55212	BBS7	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
55212	BBS7	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
55212	BBS7	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
55212	BBS7	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
55212	BBS7	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
55212	BBS7	HP:0004691	2-3 toe syndactyly	2/2	OMIM:615984
55212	BBS7	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
55212	BBS7	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
55212	BBS7	HP:0002099	Asthma	HP:0040283	ORPHA:110
55212	BBS7	HP:0010442	Polydactyly	9/9	OMIM:615984
55212	BBS7	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
55212	BBS7	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
55212	BBS7	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
55212	BBS7	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
55212	BBS7	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
55212	BBS7	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
55212	BBS7	HP:0003621	Juvenile onset	8/19	OMIM:180100
55212	BBS7	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
55212	BBS7	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
55212	BBS7	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
55212	BBS7	HP:0000618	Blindness	HP:0040282	ORPHA:110
55212	BBS7	HP:0000613	Photophobia	HP:0040282	ORPHA:110
55212	BBS7	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
55212	BBS7	HP:0000691	Microdontia	HP:0040283	ORPHA:110
55212	BBS7	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
55212	BBS7	HP:0000662	Nyctalopia	26/28	OMIM:180100
55212	BBS7	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
55212	BBS7	HP:0004322	Short stature	HP:0040282	ORPHA:110
55212	BBS7	HP:0000739	Anxiety	HP:0040283	ORPHA:110
55212	BBS7	HP:0000736	Short attention span	HP:0040282	ORPHA:110
55212	BBS7	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
55212	BBS7	HP:0000716	Depression	HP:0040282	ORPHA:110
55212	BBS7	HP:0000717	Autism	HP:0040282	ORPHA:110
55212	BBS7	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
55212	BBS7	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
55212	BBS7	HP:0011463	Childhood onset	3/19	OMIM:180100
55212	BBS7	HP:0011462	Young adult onset	8/19	OMIM:180100
55212	BBS7	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
55212	BBS7	HP:0000789	Infertility	HP:0040283	ORPHA:110
55212	BBS7	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
55212	BBS7	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
55212	BBS7	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
55212	BBS7	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
55212	BBS7	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
55212	BBS7	HP:0000822	Hypertension	HP:0040282	ORPHA:110
55212	BBS7	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
55212	BBS7	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
55212	BBS7	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
55212	BBS7	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
55212	BBS7	HP:0100259	Postaxial polydactyly	2/2	OMIM:615984
55212	BBS7	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
55212	BBS7	HP:0000272	Malar flattening	2/2	OMIM:615984
55212	BBS7	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
55212	BBS7	HP:0030084	Clinodactyly	2/2	OMIM:615984
55212	BBS7	HP:0000218	High palate	HP:0040282	ORPHA:110
55212	BBS7	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
55212	BBS7	HP:0001513	Obesity	HP:0040281	ORPHA:110
55212	BBS7	HP:0001513	Obesity	11/11	OMIM:615984
55212	BBS7	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
55212	BBS7	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
55212	BBS7	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
55212	BBS7	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
55212	BBS7	HP:0000388	Otitis media	HP:0040283	ORPHA:110
55212	BBS7	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
55212	BBS7	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
55212	BBS7	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
55212	BBS7	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
55212	BBS7	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
55212	BBS7	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
55212	BBS7	HP:0000316	Hypertelorism	2/2	OMIM:615984
55212	BBS7	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
55212	BBS7	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
55212	BBS7	HP:0000400	Macrotia	HP:0040283	ORPHA:110
55212	BBS7	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
55212	BBS7	HP:0005280	Depressed nasal bridge	2/2	OMIM:615984
55212	BBS7	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
55212	BBS7	HP:0000486	Strabismus	HP:0040283	ORPHA:110
55212	BBS7	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
55212	BBS7	HP:0000490	Deeply set eye	2/2	OMIM:615984
55212	BBS7	HP:0000470	Short neck	HP:0040283	ORPHA:110
55212	BBS7	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
55212	BBS7	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
55212	BBS7	HP:0000518	Cataract	HP:0040283	ORPHA:110
55212	BBS7	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
55212	BBS7	HP:0000510	Rod-cone dystrophy	6/7	OMIM:615984
55212	BBS7	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
55212	BBS7	HP:0000575	Scotoma	5/18	OMIM:180100
55212	BBS7	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
55212	BBS7	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
55212	BBS7	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
55212	BBS7	HP:0000543	Optic disc pallor	1/1	OMIM:180100
55212	BBS7	HP:0000545	Myopia	-	OMIM:180100
55213	RCBTB1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
55213	RCBTB1	HP:0001256	Intellectual disability, mild	3/10	OMIM:617175
55213	RCBTB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
55213	RCBTB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617175
55213	RCBTB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
55213	RCBTB1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
55213	RCBTB1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
55213	RCBTB1	HP:0007663	Reduced visual acuity	-	OMIM:617175
55213	RCBTB1	HP:0008209	Premature ovarian insufficiency	3/5	OMIM:617175
55213	RCBTB1	HP:0003581	Adult onset	9/10	OMIM:617175
55213	RCBTB1	HP:0002206	Pulmonary fibrosis	1/10	OMIM:617175
55213	RCBTB1	HP:0003621	Juvenile onset	8/19	OMIM:180100
55213	RCBTB1	HP:0003621	Juvenile onset	1/10	OMIM:617175
55213	RCBTB1	HP:0000662	Nyctalopia	26/28	OMIM:180100
55213	RCBTB1	HP:0011463	Childhood onset	3/19	OMIM:180100
55213	RCBTB1	HP:0011462	Young adult onset	8/19	OMIM:180100
55213	RCBTB1	HP:0000853	Goiter	3/10	OMIM:617175
55213	RCBTB1	HP:0000869	Secondary amenorrhea	1/5	OMIM:617175
55213	RCBTB1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
55213	RCBTB1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
55213	RCBTB1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
55213	RCBTB1	HP:0000575	Scotoma	5/18	OMIM:180100
55213	RCBTB1	HP:0000556	Retinal dystrophy	6/6	OMIM:617175
55213	RCBTB1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
55213	RCBTB1	HP:0000545	Myopia	-	OMIM:180100
55214	P3H2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
55214	P3H2	HP:0001132	Lens subluxation	3/13	OMIM:614292
55214	P3H2	HP:0001123	Visual field defect	-	OMIM:143200
55214	P3H2	HP:0001270	Motor delay	-	OMIM:156550
55214	P3H2	HP:0001288	Gait disturbance	-	OMIM:156550
55214	P3H2	HP:0100832	Vitreous floaters	5/13	OMIM:614292
55214	P3H2	HP:0006095	Wide tufts of distal phalanges	-	OMIM:154780
55214	P3H2	HP:0001376	Limitation of joint mobility	-	OMIM:156550
55214	P3H2	HP:0012019	Lens luxation	-	OMIM:154780
55214	P3H2	HP:0000023	Inguinal hernia	-	OMIM:156550
55214	P3H2	HP:0002684	Thickened calvaria	-	OMIM:154780
55214	P3H2	HP:0002688	Absent frontal sinuses	-	OMIM:154780
55214	P3H2	HP:0008839	Hypoplastic pelvis	-	OMIM:156550
55214	P3H2	HP:0006172	Flattened, squared-off epiphyses of tubular bones	-	OMIM:156550
55214	P3H2	HP:0002663	Delayed epiphyseal ossification	-	OMIM:156550
55214	P3H2	HP:0002656	Epiphyseal dysplasia	-	OMIM:184840
55214	P3H2	HP:0002673	Coxa valga	-	OMIM:154780
55214	P3H2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
55214	P3H2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614292
55214	P3H2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
55214	P3H2	HP:0000006	Autosomal dominant inheritance	-	OMIM:154780
55214	P3H2	HP:0000006	Autosomal dominant inheritance	-	OMIM:156550
55214	P3H2	HP:0000006	Autosomal dominant inheritance	-	OMIM:143200
55214	P3H2	HP:0000006	Autosomal dominant inheritance	-	OMIM:184840
55214	P3H2	HP:0008905	Rhizomelia	1/1	OMIM:156550
55214	P3H2	HP:0000179	Thick lower lip vermilion	-	OMIM:154780
55214	P3H2	HP:0000193	Bifid uvula	4/9	OMIM:154780
55214	P3H2	HP:0000175	Cleft palate	-	OMIM:184840
55214	P3H2	HP:0000175	Cleft palate	1/1	OMIM:156550
55214	P3H2	HP:0000175	Cleft palate	4/9	OMIM:154780
55214	P3H2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
55214	P3H2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
55214	P3H2	HP:0007643	Peripheral tractional retinal detachment	-	OMIM:143200
55214	P3H2	HP:0002779	Tracheomalacia	-	OMIM:156550
55214	P3H2	HP:0004619	Lumbar kyphoscoliosis	-	OMIM:156550
55214	P3H2	HP:0011800	Midface retrusion	-	OMIM:184840
55214	P3H2	HP:0011800	Midface retrusion	-	OMIM:156550
55214	P3H2	HP:0011800	Midface retrusion	9/9	OMIM:154780
55214	P3H2	HP:0002098	Respiratory distress	-	OMIM:156550
55214	P3H2	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:156550
55214	P3H2	HP:0008271	Abnormal cartilage collagen	-	OMIM:156550
55214	P3H2	HP:0010580	Enlarged epiphyses	-	OMIM:184840
55214	P3H2	HP:0003577	Congenital onset	1/1	OMIM:156550
55214	P3H2	HP:0032037	Mildly reduced visual acuity	13/13	OMIM:614292
55214	P3H2	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:156550
55214	P3H2	HP:0200003	Splayed epiphyses	-	OMIM:156550
55214	P3H2	HP:0200071	Peripheral vitreoretinal degeneration	9/13	OMIM:614292
55214	P3H2	HP:0003621	Juvenile onset	8/19	OMIM:180100
55214	P3H2	HP:0004209	Clinodactyly of the 5th finger	2/9	OMIM:154780
55214	P3H2	HP:0000648	Optic atrophy	-	OMIM:143200
55214	P3H2	HP:0030490	Exudative vitreoretinopathy	HP:0040283	OMIM:143200
55214	P3H2	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:154780
55214	P3H2	HP:0000662	Nyctalopia	26/28	OMIM:180100
55214	P3H2	HP:0004322	Short stature	-	OMIM:154780
55214	P3H2	HP:0030663	Optically empty vitreous	-	OMIM:143200
55214	P3H2	HP:0003088	Premature osteoarthritis	-	OMIM:184840
55214	P3H2	HP:0003037	Enlarged joints	-	OMIM:156550
55214	P3H2	HP:0003031	Ulnar bowing	-	OMIM:154780
55214	P3H2	HP:0003015	Flared metaphysis	-	OMIM:156550
55214	P3H2	HP:0000767	Pectus excavatum	1/1	OMIM:156550
55214	P3H2	HP:0011463	Childhood onset	3/19	OMIM:180100
55214	P3H2	HP:0011463	Childhood onset	13/13	OMIM:614292
55214	P3H2	HP:0011462	Young adult onset	8/19	OMIM:180100
55214	P3H2	HP:0003196	Short nose	9/9	OMIM:154780
55214	P3H2	HP:0000926	Platyspondyly	1/9	OMIM:154780
55214	P3H2	HP:0000926	Platyspondyly	-	OMIM:184840
55214	P3H2	HP:0000926	Platyspondyly	1/1	OMIM:156550
55214	P3H2	HP:0040025	Clinodactyly of the 4th finger	2/9	OMIM:154780
55214	P3H2	HP:0003273	Hip contracture	-	OMIM:156550
55214	P3H2	HP:0100250	Meningeal calcification	-	OMIM:154780
55214	P3H2	HP:0000947	Dumbbell-shaped long bone	-	OMIM:156550
55214	P3H2	HP:0000946	Hypoplastic ilia	-	OMIM:154780
55214	P3H2	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:143200
55214	P3H2	HP:0012283	Small distal femoral epiphysis	-	OMIM:154780
55214	P3H2	HP:0012284	Small proximal tibial epiphyses	-	OMIM:154780
55214	P3H2	HP:0000286	Epicanthus	-	OMIM:154780
55214	P3H2	HP:0000272	Malar flattening	-	OMIM:154780
55214	P3H2	HP:0000272	Malar flattening	27/28	OMIM:184840
55214	P3H2	HP:0000272	Malar flattening	1/1	OMIM:156550
55214	P3H2	HP:0006456	Irregular proximal tibial epiphyses	-	OMIM:154780
55214	P3H2	HP:0007773	Vitreoretinopathy	-	OMIM:154780
55214	P3H2	HP:0007773	Vitreoretinopathy	-	OMIM:143200
55214	P3H2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
55214	P3H2	HP:0006407	Irregular distal femoral epiphysis	-	OMIM:154780
55214	P3H2	HP:0002812	Coxa vara	-	OMIM:156550
55214	P3H2	HP:0002829	Arthralgia	20/20	OMIM:184840
55214	P3H2	HP:0002827	Hip dislocation	-	OMIM:156550
55214	P3H2	HP:0005086	Knee osteoarthritis	-	OMIM:154780
55214	P3H2	HP:0006375	Dumbbell-shaped femur	1/1	OMIM:156550
55214	P3H2	HP:0006361	Irregular femoral epiphysis	-	OMIM:154780
55214	P3H2	HP:0000215	Thick upper lip vermilion	-	OMIM:154780
55214	P3H2	HP:0001537	Umbilical hernia	-	OMIM:156550
55214	P3H2	HP:0000201	Pierre-Robin sequence	4/9	OMIM:154780
55214	P3H2	HP:0000201	Pierre-Robin sequence	-	OMIM:184840
55214	P3H2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
55214	P3H2	HP:0011003	High myopia	9/11	OMIM:614292
55214	P3H2	HP:0000369	Low-set ears	-	OMIM:154780
55214	P3H2	HP:0000343	Long philtrum	-	OMIM:154780
55214	P3H2	HP:0000347	Micrognathia	-	OMIM:154780
55214	P3H2	HP:0002982	Tibial bowing	1/1	OMIM:156550
55214	P3H2	HP:0000316	Hypertelorism	-	OMIM:154780
55214	P3H2	HP:0000311	Round face	-	OMIM:156550
55214	P3H2	HP:0002986	Radial bowing	-	OMIM:154780
55214	P3H2	HP:0002970	Genu varum	1/1	OMIM:156550
55214	P3H2	HP:0007992	Lattice retinal degeneration	3/13	OMIM:614292
55214	P3H2	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:154780
55214	P3H2	HP:0000407	Sensorineural hearing impairment	16/28	OMIM:184840
55214	P3H2	HP:0000403	Recurrent otitis media	4/9	OMIM:154780
55214	P3H2	HP:0000403	Recurrent otitis media	-	OMIM:156550
55214	P3H2	HP:0000405	Conductive hearing impairment	-	OMIM:156550
55214	P3H2	HP:0005280	Depressed nasal bridge	27/28	OMIM:184840
55214	P3H2	HP:0005280	Depressed nasal bridge	-	OMIM:156550
55214	P3H2	HP:0005280	Depressed nasal bridge	9/9	OMIM:154780
55214	P3H2	HP:0000478	Abnormality of the eye	0/3	OMIM:184840
55214	P3H2	HP:0000463	Anteverted nares	27/28	OMIM:184840
55214	P3H2	HP:0000463	Anteverted nares	-	OMIM:154780
55214	P3H2	HP:0000470	Short neck	-	OMIM:156550
55214	P3H2	HP:0025707	Hypoplastic fetal nasal bone	-	OMIM:154780
55214	P3H2	HP:0005462	Calcification of falx cerebri	-	OMIM:154780
55214	P3H2	HP:0000518	Cataract	11/13	OMIM:614292
55214	P3H2	HP:0000518	Cataract	-	OMIM:156550
55214	P3H2	HP:0000518	Cataract	-	OMIM:143200
55214	P3H2	HP:0000518	Cataract	9/9	OMIM:154780
55214	P3H2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
55214	P3H2	HP:0000520	Proptosis	-	OMIM:156550
55214	P3H2	HP:0000501	Glaucoma	-	OMIM:154780
55214	P3H2	HP:0000501	Glaucoma	-	OMIM:143200
55214	P3H2	HP:0000575	Scotoma	5/18	OMIM:180100
55214	P3H2	HP:0000572	Visual loss	-	OMIM:143200
55214	P3H2	HP:0000565	Esotropia	-	OMIM:154780
55214	P3H2	HP:0000541	Retinal detachment	-	OMIM:154780
55214	P3H2	HP:0000541	Retinal detachment	-	OMIM:156550
55214	P3H2	HP:0000541	Retinal detachment	4/13	OMIM:614292
55214	P3H2	HP:0000533	Chorioretinal atrophy	-	OMIM:143200
55214	P3H2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
55214	P3H2	HP:0000545	Myopia	-	OMIM:180100
55214	P3H2	HP:0000545	Myopia	1/1	OMIM:156550
55214	P3H2	HP:0000545	Myopia	-	OMIM:143200
55214	P3H2	HP:0000545	Myopia	9/9	OMIM:154780
55215	FANCI	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
55215	FANCI	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
55215	FANCI	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
55215	FANCI	HP:0001274	Agenesis of corpus callosum	1/2	OMIM:609053
55215	FANCI	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
55215	FANCI	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
55215	FANCI	HP:0001263	Global developmental delay	2/2	OMIM:609053
55215	FANCI	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
55215	FANCI	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
55215	FANCI	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
55215	FANCI	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
55215	FANCI	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
55215	FANCI	HP:0000089	Renal hypoplasia	1/3	OMIM:609053
55215	FANCI	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
55215	FANCI	HP:0000085	Horseshoe kidney	1/3	OMIM:609053
55215	FANCI	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
55215	FANCI	HP:0000076	Vesicoureteral reflux	1/3	OMIM:609053
55215	FANCI	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
55215	FANCI	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
55215	FANCI	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
55215	FANCI	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
55215	FANCI	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
55215	FANCI	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
55215	FANCI	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
55215	FANCI	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
55215	FANCI	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
55215	FANCI	HP:0001331	Absent septum pellucidum	11/12	OMIM:609053
55215	FANCI	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
55215	FANCI	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
55215	FANCI	HP:0000007	Autosomal recessive inheritance	20/20	OMIM:609053
55215	FANCI	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
55215	FANCI	HP:0003974	Absent radius	1/1	OMIM:609053
55215	FANCI	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
55215	FANCI	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
55215	FANCI	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
55215	FANCI	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
55215	FANCI	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
55215	FANCI	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
55215	FANCI	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
55215	FANCI	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
55215	FANCI	HP:0010469	Absent testis	HP:0040283	ORPHA:84
55215	FANCI	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
55215	FANCI	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
55215	FANCI	HP:0003577	Congenital onset	4/4	OMIM:609053
55215	FANCI	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
55215	FANCI	HP:0002247	Duodenal atresia	1/3	OMIM:609053
55215	FANCI	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
55215	FANCI	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
55215	FANCI	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
55215	FANCI	HP:0009777	Absent thumb	3/4	OMIM:609053
55215	FANCI	HP:0009778	Short thumb	1/4	OMIM:609053
55215	FANCI	HP:0002308	Chiari malformation	1/3	OMIM:609053
55215	FANCI	HP:0005528	Bone marrow hypocellularity	3/3	OMIM:609053
55215	FANCI	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
55215	FANCI	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
55215	FANCI	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
55215	FANCI	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
55215	FANCI	HP:0000609	Optic nerve hypoplasia	1/2	OMIM:609053
55215	FANCI	HP:0001903	Anemia	1/1	OMIM:609053
55215	FANCI	HP:0001903	Anemia	HP:0040281	ORPHA:84
55215	FANCI	HP:0010034	Short 1st metacarpal	1/3	OMIM:609053
55215	FANCI	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
55215	FANCI	HP:0004325	Decreased body weight	1/1	OMIM:609053
55215	FANCI	HP:0004322	Short stature	HP:0040281	ORPHA:84
55215	FANCI	HP:0004322	Short stature	10/10	OMIM:609053
55215	FANCI	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	OMIM:609053
55215	FANCI	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
55215	FANCI	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
55215	FANCI	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
55215	FANCI	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
55215	FANCI	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
55215	FANCI	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
55215	FANCI	HP:0000821	Hypothyroidism	3/3	OMIM:609053
55215	FANCI	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
55215	FANCI	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
55215	FANCI	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
55215	FANCI	HP:0003221	Chromosomal breakage induced by crosslinking agents	10/10	OMIM:609053
55215	FANCI	HP:0034323	Reduced circulating growth hormone concentration	1/1	OMIM:609053
55215	FANCI	HP:0000957	Cafe-au-lait spot	3/3	OMIM:609053
55215	FANCI	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
55215	FANCI	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
55215	FANCI	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
55215	FANCI	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
55215	FANCI	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
55215	FANCI	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
55215	FANCI	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
55215	FANCI	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
55215	FANCI	HP:0000252	Microcephaly	3/3	OMIM:609053
55215	FANCI	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
55215	FANCI	HP:0012210	Abnormal renal morphology	HP:0040283	OMIM:609053
55215	FANCI	HP:0000218	High palate	HP:0040283	ORPHA:84
55215	FANCI	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
55215	FANCI	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
55215	FANCI	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
55215	FANCI	HP:0030048	Colpocephaly	1/3	OMIM:609053
55215	FANCI	HP:0001511	Intrauterine growth retardation	1/2	OMIM:609053
55215	FANCI	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
55215	FANCI	HP:0001510	Growth delay	HP:0040283	ORPHA:84
55215	FANCI	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
55215	FANCI	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
55215	FANCI	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
55215	FANCI	HP:0002949	Fused cervical vertebrae	2/3	OMIM:609053
55215	FANCI	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
55215	FANCI	HP:0000365	Hearing impairment	3/3	OMIM:609053
55215	FANCI	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
55215	FANCI	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
55215	FANCI	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
55215	FANCI	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
55215	FANCI	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
55215	FANCI	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
55215	FANCI	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
55215	FANCI	HP:0001643	Patent ductus arteriosus	1/3	OMIM:609053
55215	FANCI	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
55215	FANCI	HP:0000325	Triangular face	3/3	OMIM:609053
55215	FANCI	HP:0002984	Hypoplasia of the radius	-	OMIM:609053
55215	FANCI	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
55215	FANCI	HP:0001655	Patent foramen ovale	1/3	OMIM:609053
55215	FANCI	HP:0001629	Ventricular septal defect	3/3	OMIM:609053
55215	FANCI	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
55215	FANCI	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
55215	FANCI	HP:0001631	Atrial septal defect	2/3	OMIM:609053
55215	FANCI	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
55215	FANCI	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
55215	FANCI	HP:0000405	Conductive hearing impairment	-	OMIM:609053
55215	FANCI	HP:0000483	Astigmatism	2/2	OMIM:609053
55215	FANCI	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
55215	FANCI	HP:0000486	Strabismus	HP:0040283	ORPHA:84
55215	FANCI	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
55215	FANCI	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
55215	FANCI	HP:0000470	Short neck	1/1	OMIM:609053
55215	FANCI	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
55215	FANCI	HP:0001763	Pes planus	HP:0040283	ORPHA:84
55215	FANCI	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
55215	FANCI	HP:0000413	Atresia of the external auditory canal	1/1	OMIM:609053
55215	FANCI	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
55215	FANCI	HP:0012506	Small pituitary gland	1/1	OMIM:609053
55215	FANCI	HP:0000518	Cataract	HP:0040283	ORPHA:84
55215	FANCI	HP:0000520	Proptosis	HP:0040283	ORPHA:84
55215	FANCI	HP:0001824	Weight loss	HP:0040283	ORPHA:84
55215	FANCI	HP:0000508	Ptosis	HP:0040283	ORPHA:84
55215	FANCI	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
55215	FANCI	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
55215	FANCI	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
55215	FANCI	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
55215	FANCI	HP:0000568	Microphthalmia	1/3	OMIM:609053
55215	FANCI	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
55215	FANCI	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
55215	FANCI	HP:0000543	Optic disc pallor	1/3	OMIM:609053
55215	FANCI	HP:0001873	Thrombocytopenia	1/3	OMIM:609053
55215	FANCI	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
55215	FANCI	HP:0000545	Myopia	2/3	OMIM:609053
55215	FANCI	HP:0001875	Decreased total neutrophil count	2/3	OMIM:609053
55217	TMLHE	HP:0001250	Seizure	0/2	OMIM:300872
55217	TMLHE	HP:0001249	Intellectual disability	2/2	OMIM:300872
55217	TMLHE	HP:0000160	Narrow mouth	2/2	OMIM:300872
55217	TMLHE	HP:0001419	X-linked recessive inheritance	-	OMIM:300872
55217	TMLHE	HP:0002003	Large forehead	1/2	OMIM:300872
55217	TMLHE	HP:0002376	Developmental regression	0/2	OMIM:300872
55217	TMLHE	HP:0000750	Delayed speech and language development	1/2	OMIM:300872
55217	TMLHE	HP:0000717	Autism	2/2	OMIM:300872
55217	TMLHE	HP:0001513	Obesity	2/2	OMIM:300872
55217	TMLHE	HP:0000322	Short philtrum	1/2	OMIM:300872
55217	TMLHE	HP:0000430	Underdeveloped nasal alae	1/2	OMIM:300872
55217	TMLHE	HP:0000508	Ptosis	1/2	OMIM:300872
55229	PANK4	HP:0010924	Posterior cortical cataract	7/7	OMIM:619593
55229	PANK4	HP:0000006	Autosomal dominant inheritance	-	OMIM:619593
55229	PANK4	HP:0007663	Reduced visual acuity	6/6	OMIM:619593
55229	PANK4	HP:0003621	Juvenile onset	3/7	OMIM:619593
55229	PANK4	HP:0000639	Nystagmus	4/6	OMIM:619593
55229	PANK4	HP:0011463	Childhood onset	4/7	OMIM:619593
55240	STEAP3	HP:0032231	Hypochromia	3/3	OMIM:615234
55240	STEAP3	HP:0000027	Azoospermia	2/2	OMIM:615234
55240	STEAP3	HP:0000027	Azoospermia	HP:0040282	ORPHA:300298
55240	STEAP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:615234
55240	STEAP3	HP:0012134	Dysplastic erythropoesis	HP:0040283	ORPHA:300298
55240	STEAP3	HP:0000135	Hypogonadism	3/3	OMIM:615234
55240	STEAP3	HP:0000135	Hypogonadism	HP:0040282	ORPHA:300298
55240	STEAP3	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:300298
55240	STEAP3	HP:0003452	Increased circulating iron concentration	HP:0040282	ORPHA:300298
55240	STEAP3	HP:0003593	Infantile onset	2/3	OMIM:615234
55240	STEAP3	HP:0002240	Hepatomegaly	1/3	OMIM:615234
55240	STEAP3	HP:0004823	Anisopoikilocytosis	HP:0040282	ORPHA:300298
55240	STEAP3	HP:0025066	Decreased mean corpuscular volume	HP:0040282	ORPHA:300298
55240	STEAP3	HP:0025066	Decreased mean corpuscular volume	2/3	OMIM:615234
55240	STEAP3	HP:0001924	Sideroblastic anemia	1/3	OMIM:615234
55240	STEAP3	HP:0001903	Anemia	3/3	OMIM:615234
55240	STEAP3	HP:0001903	Anemia	HP:0040281	ORPHA:300298
55240	STEAP3	HP:0011463	Childhood onset	1/3	OMIM:615234
55240	STEAP3	HP:0004447	Poikilocytosis	3/3	OMIM:615234
55240	STEAP3	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040282	ORPHA:300298
55240	STEAP3	HP:0000846	Adrenal insufficiency	HP:0040283	ORPHA:300298
55240	STEAP3	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:300298
55240	STEAP3	HP:0003281	Increased circulating ferritin concentration	3/3	OMIM:615234
55240	STEAP3	HP:0003281	Increased circulating ferritin concentration	HP:0040281	ORPHA:300298
55240	STEAP3	HP:0000980	Pallor	-	OMIM:615234
55240	STEAP3	HP:0000980	Pallor	HP:0040282	ORPHA:300298
55240	STEAP3	HP:0000957	Cafe-au-lait spot	1/3	OMIM:615234
55240	STEAP3	HP:0000957	Cafe-au-lait spot	HP:0040283	ORPHA:300298
55240	STEAP3	HP:0001510	Growth delay	1/3	OMIM:615234
55240	STEAP3	HP:0001510	Growth delay	HP:0040283	ORPHA:300298
55240	STEAP3	HP:0012378	Fatigue	HP:0040282	ORPHA:300298
55240	STEAP3	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:300298
55240	STEAP3	HP:0012463	Elevated transferrin saturation	3/3	OMIM:615234
55240	STEAP3	HP:0012464	Decreased transferrin saturation	HP:0040281	ORPHA:300298
55240	STEAP3	HP:0012465	Elevated hepatic iron concentration	HP:0040282	ORPHA:300298
55240	STEAP3	HP:0012465	Elevated hepatic iron concentration	3/3	OMIM:615234
55240	STEAP3	HP:0001744	Splenomegaly	1/3	OMIM:615234
55240	STEAP3	HP:0001896	Reticulocytopenia	HP:0040281	ORPHA:300298
55243	KIRREL1	HP:0000097	Focal segmental glomerulosclerosis	1/2	OMIM:619201
55243	KIRREL1	HP:0000093	Proteinuria	2/2	OMIM:619201
55243	KIRREL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619201
55243	KIRREL1	HP:0031266	Podocyte foot process effacement	1/2	OMIM:619201
55243	KIRREL1	HP:0003621	Juvenile onset	1/2	OMIM:619201
55243	KIRREL1	HP:0011463	Childhood onset	1/2	OMIM:619201
55243	KIRREL1	HP:0012588	Steroid-resistant nephrotic syndrome	2/2	OMIM:619201
55243	KIRREL1	HP:0012579	Minimal change glomerulonephritis	1/2	OMIM:619201
55243	KIRREL1	HP:0012574	Mesangial hypercellularity	1/2	OMIM:619201
55249	YY1AP1	HP:0001156	Brachydactyly	-	OMIM:602531
55249	YY1AP1	HP:0001159	Syndactyly	HP:0040282	ORPHA:79094
55249	YY1AP1	HP:0001159	Syndactyly	-	OMIM:602531
55249	YY1AP1	HP:0100817	Renovascular hypertension	-	OMIM:602531
55249	YY1AP1	HP:0001249	Intellectual disability	-	OMIM:602531
55249	YY1AP1	HP:0001328	Specific learning disability	HP:0040281	ORPHA:79094
55249	YY1AP1	HP:0002659	Increased susceptibility to fractures	HP:0040281	ORPHA:79094
55249	YY1AP1	HP:0002659	Increased susceptibility to fractures	-	OMIM:602531
55249	YY1AP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:602531
55249	YY1AP1	HP:0002757	Recurrent fractures	-	OMIM:602531
55249	YY1AP1	HP:0100545	Arterial stenosis	HP:0040281	ORPHA:79094
55249	YY1AP1	HP:0100546	Carotid artery stenosis	-	OMIM:602531
55249	YY1AP1	HP:0004279	Short palm	HP:0040282	ORPHA:79094
55249	YY1AP1	HP:0006889	Intellectual disability, borderline	HP:0040281	ORPHA:79094
55249	YY1AP1	HP:0001920	Renal artery stenosis	-	OMIM:602531
55249	YY1AP1	HP:0004325	Decreased body weight	-	OMIM:602531
55249	YY1AP1	HP:0000822	Hypertension	HP:0040282	ORPHA:79094
55249	YY1AP1	HP:0040019	Finger clinodactyly	-	OMIM:602531
55249	YY1AP1	HP:0005145	Coronary artery stenosis	HP:0040283	OMIM:602531
55249	YY1AP1	HP:0001647	Bicuspid aortic valve	HP:0040283	OMIM:602531
55249	YY1AP1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:79094
55249	YY1AP1	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:79094
55249	YY1AP1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:79094
55250	ELP2	HP:0002421	Poor head control	2/2	OMIM:617270
55250	ELP2	HP:0001249	Intellectual disability	2/2	OMIM:617270
55250	ELP2	HP:0001264	Spastic diplegia	2/2	OMIM:617270
55250	ELP2	HP:0001266	Choreoathetosis	2/2	OMIM:617270
55250	ELP2	HP:0001263	Global developmental delay	2/2	OMIM:617270
55250	ELP2	HP:0001347	Hyperreflexia	2/2	OMIM:617270
55250	ELP2	HP:0001344	Absent speech	2/2	OMIM:617270
55250	ELP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617270
55250	ELP2	HP:0008936	Axial hypotonia	2/2	OMIM:617270
55250	ELP2	HP:0011856	Pica	2/2	OMIM:617270
55250	ELP2	HP:0003593	Infantile onset	2/2	OMIM:617270
55250	ELP2	HP:0003577	Congenital onset	-	OMIM:617270
55250	ELP2	HP:0100716	Self-injurious behavior	2/2	OMIM:617270
55250	ELP2	HP:0003676	Progressive	-	OMIM:617270
55250	ELP2	HP:0004322	Short stature	1/2	OMIM:617270
55250	ELP2	HP:0000733	Motor stereotypy	2/2	OMIM:617270
55250	ELP2	HP:0000750	Delayed speech and language development	2/2	OMIM:617270
55250	ELP2	HP:0000718	Aggressive behavior	2/2	OMIM:617270
55252	ASXL2	HP:0025104	Capillary malformation	2/6	OMIM:617190
55252	ASXL2	HP:0010952	Mild fetal ventriculomegaly	1/6	OMIM:617190
55252	ASXL2	HP:0001250	Seizure	3/6	OMIM:617190
55252	ASXL2	HP:0001252	Hypotonia	6/6	OMIM:617190
55252	ASXL2	HP:0001249	Intellectual disability	-	OMIM:617190
55252	ASXL2	HP:0001263	Global developmental delay	6/6	OMIM:617190
55252	ASXL2	HP:0007413	Nevus flammeus of the forehead	6/6	OMIM:617190
55252	ASXL2	HP:0002553	Highly arched eyebrow	5/6	OMIM:617190
55252	ASXL2	HP:0002509	Limb hypertonia	1/6	OMIM:617190
55252	ASXL2	HP:0008872	Feeding difficulties in infancy	6/6	OMIM:617190
55252	ASXL2	HP:0006191	Deep palmar crease	3/6	OMIM:617190
55252	ASXL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617190
55252	ASXL2	HP:0002650	Scoliosis	1/6	OMIM:617190
55252	ASXL2	HP:0000122	Unilateral renal agenesis	1/6	OMIM:617190
55252	ASXL2	HP:0002057	Prominent glabella	1/6	OMIM:617190
55252	ASXL2	HP:0004602	Cervical C2/C3 vertebral fusion	1/6	OMIM:617190
55252	ASXL2	HP:0002119	Ventriculomegaly	1/6	OMIM:617190
55252	ASXL2	HP:0003577	Congenital onset	6/6	OMIM:617190
55252	ASXL2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	3/6	OMIM:617190
55252	ASXL2	HP:0001943	Hypoglycemia	3/6	OMIM:617190
55252	ASXL2	HP:0010049	Short metacarpal	1/6	OMIM:617190
55252	ASXL2	HP:0000664	Synophrys	2/6	OMIM:617190
55252	ASXL2	HP:0005616	Accelerated skeletal maturation	2/6	OMIM:617190
55252	ASXL2	HP:0000750	Delayed speech and language development	-	OMIM:617190
55252	ASXL2	HP:0034295	Reduced cerebral white matter volume	2/6	OMIM:617190
55252	ASXL2	HP:0000998	Hypertrichosis	1/6	OMIM:617190
55252	ASXL2	HP:0000939	Osteoporosis	1/6	OMIM:617190
55252	ASXL2	HP:0000286	Epicanthus	3/6	OMIM:617190
55252	ASXL2	HP:0000278	Retrognathia	-	OMIM:617190
55252	ASXL2	HP:0000256	Macrocephaly	6/6	OMIM:617190
55252	ASXL2	HP:0000276	Long face	2/6	OMIM:617190
55252	ASXL2	HP:0002808	Kyphosis	1/6	OMIM:617190
55252	ASXL2	HP:0000219	Thin upper lip vermilion	1/6	OMIM:617190
55252	ASXL2	HP:0001511	Intrauterine growth retardation	1/6	OMIM:617190
55252	ASXL2	HP:0000378	Cupped ear	1/6	OMIM:617190
55252	ASXL2	HP:0000396	Overfolded helix	1/6	OMIM:617190
55252	ASXL2	HP:0000358	Posteriorly rotated ears	4/6	OMIM:617190
55252	ASXL2	HP:0000369	Low-set ears	2/6	OMIM:617190
55252	ASXL2	HP:0000316	Hypertelorism	6/6	OMIM:617190
55252	ASXL2	HP:0001643	Patent ductus arteriosus	1/6	OMIM:617190
55252	ASXL2	HP:0001631	Atrial septal defect	3/6	OMIM:617190
55252	ASXL2	HP:0000455	Broad nasal tip	4/6	OMIM:617190
55252	ASXL2	HP:0000527	Long eyelashes	2/6	OMIM:617190
55252	ASXL2	HP:0000520	Proptosis	3/6	OMIM:617190
55252	ASXL2	HP:0000508	Ptosis	3/6	OMIM:617190
55252	ASXL2	HP:0012520	Dilation of Virchow-Robin spaces	3/6	OMIM:617190
55262	TRAPPC14	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
55262	TRAPPC14	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
55262	TRAPPC14	HP:0001249	Intellectual disability	3/3	OMIM:618351
55262	TRAPPC14	HP:0001263	Global developmental delay	3/3	OMIM:618351
55262	TRAPPC14	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
55262	TRAPPC14	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
55262	TRAPPC14	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
55262	TRAPPC14	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
55262	TRAPPC14	HP:0000007	Autosomal recessive inheritance	-	OMIM:618351
55262	TRAPPC14	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
55262	TRAPPC14	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
55262	TRAPPC14	HP:0002079	Hypoplasia of the corpus callosum	3/3	OMIM:618351
55262	TRAPPC14	HP:6000184	Filum terminale lipoma	1/3	OMIM:618351
55262	TRAPPC14	HP:0002144	Tethered cord	1/3	OMIM:618351
55262	TRAPPC14	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
55262	TRAPPC14	HP:0003577	Congenital onset	3/3	OMIM:618351
55262	TRAPPC14	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
55262	TRAPPC14	HP:0007018	Attention deficit hyperactivity disorder	3/3	OMIM:618351
55262	TRAPPC14	HP:0004322	Short stature	HP:0040281	ORPHA:2512
55262	TRAPPC14	HP:0000750	Delayed speech and language development	3/3	OMIM:618351
55262	TRAPPC14	HP:0011451	Primary microcephaly	3/3	OMIM:618351
55262	TRAPPC14	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
55262	TRAPPC14	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
55262	TRAPPC14	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
55262	TRAPPC14	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
55262	TRAPPC14	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
55262	TRAPPC14	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
55275	VPS53	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	10/10	OMIM:615851
55275	VPS53	HP:0001276	Hypertonia	2/2	OMIM:615851
55275	VPS53	HP:0001272	Cerebellar atrophy	12/12	OMIM:615851
55275	VPS53	HP:0001249	Intellectual disability	10/10	OMIM:615851
55275	VPS53	HP:0001263	Global developmental delay	12/12	OMIM:615851
55275	VPS53	HP:0001257	Spasticity	2/2	OMIM:615851
55275	VPS53	HP:0007380	Facial telangiectasia	2/2	OMIM:615851
55275	VPS53	HP:0002510	Spastic tetraplegia	10/10	OMIM:615851
55275	VPS53	HP:0001371	Flexion contracture	-	OMIM:615851
55275	VPS53	HP:0000007	Autosomal recessive inheritance	-	OMIM:615851
55275	VPS53	HP:0001336	Myoclonus	1/2	OMIM:615851
55275	VPS53	HP:0002650	Scoliosis	-	OMIM:615851
55275	VPS53	HP:0001319	Neonatal hypotonia	-	OMIM:615851
55275	VPS53	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:615851
55275	VPS53	HP:0002059	Cerebral atrophy	12/12	OMIM:615851
55275	VPS53	HP:0002119	Ventriculomegaly	1/2	OMIM:615851
55275	VPS53	HP:0002187	Intellectual disability, profound	-	OMIM:615851
55275	VPS53	HP:0002179	Opisthotonus	10/10	OMIM:615851
55275	VPS53	HP:0003593	Infantile onset	12/12	OMIM:615851
55275	VPS53	HP:0009748	Large earlobe	2/2	OMIM:615851
55275	VPS53	HP:0003676	Progressive	-	OMIM:615851
55275	VPS53	HP:0000648	Optic atrophy	1/2	OMIM:615851
55275	VPS53	HP:0011344	Severe global developmental delay	2/2	OMIM:615851
55275	VPS53	HP:0004322	Short stature	-	OMIM:615851
55275	VPS53	HP:0000737	Irritability	-	OMIM:615851
55275	VPS53	HP:0003196	Short nose	2/2	OMIM:615851
55275	VPS53	HP:0000939	Osteoporosis	-	OMIM:615851
55275	VPS53	HP:0000286	Epicanthus	2/2	OMIM:615851
55275	VPS53	HP:0000253	Progressive microcephaly	-	OMIM:615851
55275	VPS53	HP:0000252	Microcephaly	-	OMIM:615851
55275	VPS53	HP:0001508	Failure to thrive	1/2	OMIM:615851
55275	VPS53	HP:0000341	Narrow forehead	2/2	OMIM:615851
55275	VPS53	HP:0032792	Tonic seizure	2/2	OMIM:615851
55275	VPS53	HP:0000347	Micrognathia	2/2	OMIM:615851
55275	VPS53	HP:0032794	Myoclonic seizure	-	OMIM:615851
55275	VPS53	HP:0000486	Strabismus	2/2	OMIM:615851
55275	VPS53	HP:0012469	Infantile spasms	2/2	OMIM:615851
55275	VPS53	HP:0000445	Wide nose	2/2	OMIM:615851
55275	VPS53	HP:0005484	Secondary microcephaly	2/2	OMIM:615851
55278	QRSL1	HP:0003811	Neonatal death	3/9	OMIM:618835
55278	QRSL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618835
55278	QRSL1	HP:0001410	Decreased liver function	5/9	OMIM:618835
55278	QRSL1	HP:0008163	Decreased circulating cortisol level	1/2	OMIM:618835
55278	QRSL1	HP:0011924	Decreased activity of mitochondrial complex III	4/7	OMIM:618835
55278	QRSL1	HP:0011923	Decreased activity of mitochondrial complex I	6/7	OMIM:618835
55278	QRSL1	HP:0008347	Decreased activity of mitochondrial complex IV	6/7	OMIM:618835
55278	QRSL1	HP:0001943	Hypoglycemia	2/9	OMIM:618835
55278	QRSL1	HP:0001903	Anemia	7/7	OMIM:618835
55278	QRSL1	HP:0003128	Lactic acidosis	9/9	OMIM:618835
55278	QRSL1	HP:0003236	Elevated circulating creatine kinase concentration	5/9	OMIM:618835
55278	QRSL1	HP:0001522	Death in infancy	6/9	OMIM:618835
55278	QRSL1	HP:0001511	Intrauterine growth retardation	2/9	OMIM:618835
55278	QRSL1	HP:0000365	Hearing impairment	1/1	OMIM:618835
55278	QRSL1	HP:0001622	Premature birth	2/9	OMIM:618835
55278	QRSL1	HP:0001639	Hypertrophic cardiomyopathy	9/9	OMIM:618835
55278	QRSL1	HP:0001790	Nonimmune hydrops fetalis	3/9	OMIM:618835
55280	CWF19L1	HP:0002470	Nonprogressive cerebellar ataxia	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0001272	Cerebellar atrophy	1/1	OMIM:616127
55280	CWF19L1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:453521
55280	CWF19L1	HP:0001256	Intellectual disability, mild	1/1	OMIM:616127
55280	CWF19L1	HP:0001252	Hypotonia	3/3	OMIM:616127
55280	CWF19L1	HP:0001251	Ataxia	1/1	OMIM:616127
55280	CWF19L1	HP:0001249	Intellectual disability	2/2	OMIM:616127
55280	CWF19L1	HP:0001260	Dysarthria	4/4	OMIM:616127
55280	CWF19L1	HP:0001260	Dysarthria	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0001263	Global developmental delay	2/2	OMIM:616127
55280	CWF19L1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0001350	Slurred speech	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0001347	Hyperreflexia	2/2	OMIM:616127
55280	CWF19L1	HP:0001332	Dystonia	1/1	OMIM:616127
55280	CWF19L1	HP:0001332	Dystonia	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616127
55280	CWF19L1	HP:0001310	Dysmetria	4/4	OMIM:616127
55280	CWF19L1	HP:0001310	Dysmetria	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0001320	Cerebellar vermis hypoplasia	3/3	OMIM:616127
55280	CWF19L1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0001321	Cerebellar hypoplasia	3/3	OMIM:616127
55280	CWF19L1	HP:0008947	Floppy infant	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0002080	Intention tremor	2/2	OMIM:616127
55280	CWF19L1	HP:0002080	Intention tremor	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0002066	Gait ataxia	1/1	OMIM:616127
55280	CWF19L1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0002078	Truncal ataxia	2/2	OMIM:616127
55280	CWF19L1	HP:0002078	Truncal ataxia	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0002070	Limb ataxia	2/2	OMIM:616127
55280	CWF19L1	HP:0003388	Easy fatigability	1/1	OMIM:616127
55280	CWF19L1	HP:0003487	Babinski sign	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0002136	Broad-based gait	1/1	OMIM:616127
55280	CWF19L1	HP:0009617	Abnormality of the distal phalanx of the thumb	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0003593	Infantile onset	1/1	OMIM:616127
55280	CWF19L1	HP:0003577	Congenital onset	2/2	OMIM:616127
55280	CWF19L1	HP:0002359	Frequent falls	2/2	OMIM:616127
55280	CWF19L1	HP:0002359	Frequent falls	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0003677	Slowly progressive	-	OMIM:616127
55280	CWF19L1	HP:0002317	Unsteady gait	3/3	OMIM:616127
55280	CWF19L1	HP:0002317	Unsteady gait	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0002312	Clumsiness	1/1	OMIM:616127
55280	CWF19L1	HP:0002312	Clumsiness	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0000657	Oculomotor apraxia	1/1	OMIM:616127
55280	CWF19L1	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0000664	Synophrys	1/1	OMIM:616127
55280	CWF19L1	HP:0000664	Synophrys	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0000666	Horizontal nystagmus	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0000750	Delayed speech and language development	1/1	OMIM:616127
55280	CWF19L1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0011463	Childhood onset	1/1	OMIM:616127
55280	CWF19L1	HP:0040196	Mild microcephaly	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0040196	Mild microcephaly	1/1	OMIM:616127
55280	CWF19L1	HP:0012389	Appendicular hypotonia	2/2	OMIM:616127
55280	CWF19L1	HP:0031435	Monotonic speech	HP:0040282	ORPHA:453521
55280	CWF19L1	HP:0000486	Strabismus	1/1	OMIM:616127
55280	CWF19L1	HP:0000574	Thick eyebrow	1/1	OMIM:616127
55294	FBXW7	HP:0001250	Seizure	8/35	OMIM:620012
55294	FBXW7	HP:0001252	Hypotonia	22/35	OMIM:620012
55294	FBXW7	HP:0001251	Ataxia	2/35	OMIM:620012
55294	FBXW7	HP:0001249	Intellectual disability	30/35	OMIM:620012
55294	FBXW7	HP:0001263	Global developmental delay	30/35	OMIM:620012
55294	FBXW7	HP:0008751	Laryngeal cleft	1/35	OMIM:620012
55294	FBXW7	HP:0000028	Cryptorchidism	5/26	OMIM:620012
55294	FBXW7	HP:0001328	Specific learning disability	2/35	OMIM:620012
55294	FBXW7	HP:0000006	Autosomal dominant inheritance	-	OMIM:620012
55294	FBXW7	HP:0002020	Gastroesophageal reflux	7/35	OMIM:620012
55294	FBXW7	HP:0002019	Constipation	16/35	OMIM:620012
55294	FBXW7	HP:0100704	Cerebral visual impairment	1/35	OMIM:620012
55294	FBXW7	HP:0011968	Feeding difficulties	16/35	OMIM:620012
55294	FBXW7	HP:0002376	Developmental regression	1/35	OMIM:620012
55294	FBXW7	HP:0000750	Delayed speech and language development	1/35	OMIM:620012
55294	FBXW7	HP:0000256	Macrocephaly	10/35	OMIM:620012
55294	FBXW7	HP:0000252	Microcephaly	2/35	OMIM:620012
55294	FBXW7	HP:0006532	Recurrent pneumonia	3/35	OMIM:620012
55294	FBXW7	HP:0000483	Astigmatism	1/35	OMIM:620012
55294	FBXW7	HP:0000486	Strabismus	5/35	OMIM:620012
55294	FBXW7	HP:0012443	Abnormal brain morphology	13/17	OMIM:620012
55294	FBXW7	HP:0000410	Mixed hearing impairment	2/35	OMIM:620012
55294	FBXW7	HP:0001875	Decreased total neutrophil count	2/35	OMIM:620012
55297	CCDC91	HP:0025114	Hypergranulosis	HP:0040282	ORPHA:38
55297	CCDC91	HP:0025167	Fragmented elastic fibers in the dermis	HP:0040281	ORPHA:38
55297	CCDC91	HP:0006089	Palmar hyperhidrosis	HP:0040283	ORPHA:38
55297	CCDC91	HP:0025092	Epidermal acanthosis	HP:0040281	ORPHA:38
55297	CCDC91	HP:0200035	Skin plaque	HP:0040283	ORPHA:38
55297	CCDC91	HP:0045059	Hyperkeratotic papule	HP:0040281	ORPHA:38
55297	CCDC91	HP:0000972	Palmoplantar hyperkeratosis	HP:0040281	ORPHA:38
55297	CCDC91	HP:0040162	Orthokeratosis	HP:0040282	ORPHA:38
55297	CCDC91	HP:0002814	Abnormality of the lower limb	HP:0040284	ORPHA:38
55297	CCDC91	HP:0025509	Piezogenic pedal papules	HP:0040283	ORPHA:38
55297	CCDC91	HP:0025507	Yellow papule	HP:0040282	ORPHA:38
55297	CCDC91	HP:0002955	Granulomatosis	HP:0040282	ORPHA:38
55315	SLC29A3	HP:0003765	Psoriasiform dermatitis	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55315	SLC29A3	HP:0001293	Cranial nerve compression	-	OMIM:131300
55315	SLC29A3	HP:0001291	Abnormal cranial nerve morphology	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0001252	Hypotonia	2/7	OMIM:615777
55315	SLC29A3	HP:0001249	Intellectual disability	5/7	OMIM:615777
55315	SLC29A3	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0002594	Pancreatic hypoplasia	HP:0040284	OMIM:602782
55315	SLC29A3	HP:0001263	Global developmental delay	-	OMIM:615777
55315	SLC29A3	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:168569
55315	SLC29A3	HP:0025289	Cervical lymphadenopathy	12/13	OMIM:602782
55315	SLC29A3	HP:0007380	Facial telangiectasia	10/18	OMIM:602782
55315	SLC29A3	HP:0007380	Facial telangiectasia	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0002515	Waddling gait	54/102	OMIM:131300
55315	SLC29A3	HP:0002514	Cerebral calcification	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0000054	Micropenis	6/12	OMIM:602782
55315	SLC29A3	HP:0000054	Micropenis	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0001382	Joint hypermobility	-	OMIM:615777
55315	SLC29A3	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55315	SLC29A3	HP:0000027	Azoospermia	3/3	OMIM:602782
55315	SLC29A3	HP:0000027	Azoospermia	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55315	SLC29A3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55315	SLC29A3	HP:0001324	Muscle weakness	40/96	OMIM:131300
55315	SLC29A3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55315	SLC29A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:602782
55315	SLC29A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55315	SLC29A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55315	SLC29A3	HP:0002650	Scoliosis	12/14	OMIM:131300
55315	SLC29A3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55315	SLC29A3	HP:0002619	Varicose veins	11/19	OMIM:602782
55315	SLC29A3	HP:0002619	Varicose veins	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55315	SLC29A3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55315	SLC29A3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55315	SLC29A3	HP:0000175	Cleft palate	2/7	OMIM:615777
55315	SLC29A3	HP:0000141	Amenorrhea	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0000135	Hypogonadism	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0002797	Osteolysis	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0001433	Hepatosplenomegaly	3/4	OMIM:602782
55315	SLC29A3	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:168569
55315	SLC29A3	HP:0000105	Enlarged kidney	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0002716	Lymphadenopathy	12/12	OMIM:602782
55315	SLC29A3	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:168569
55315	SLC29A3	HP:0002024	Malabsorption	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0003301	Irregular vertebral endplates	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0100534	Episcleritis	8/14	OMIM:602782
55315	SLC29A3	HP:0033190	Hypertrichotic hyperpigmented patch	10/10	OMIM:602782
55315	SLC29A3	HP:0002092	Pulmonary arterial hypertension	2/18	OMIM:602782
55315	SLC29A3	HP:0003388	Easy fatigability	36/76	OMIM:131300
55315	SLC29A3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55315	SLC29A3	HP:0002155	Hypertriglyceridemia	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0100490	Camptodactyly of finger	7/7	OMIM:602782
55315	SLC29A3	HP:0002240	Hepatomegaly	13/23	OMIM:602782
55315	SLC29A3	HP:0002257	Chronic rhinitis	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0003565	Elevated erythrocyte sedimentation rate	3/3	OMIM:602782
55315	SLC29A3	HP:0100776	Recurrent pharyngitis	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0100790	Hernia	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0100727	Histiocytosis	4/4	OMIM:602782
55315	SLC29A3	HP:0100727	Histiocytosis	HP:0040281	ORPHA:168569
55315	SLC29A3	HP:0002293	Alopecia of scalp	1/2	OMIM:602782
55315	SLC29A3	HP:0003510	Severe short stature	7/7	OMIM:615777
55315	SLC29A3	HP:0002376	Developmental regression	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0002315	Headache	-	OMIM:131300
55315	SLC29A3	HP:0004976	Knee dislocation	6/7	OMIM:615777
55315	SLC29A3	HP:0100651	Type I diabetes mellitus	3/4	OMIM:602782
55315	SLC29A3	HP:0100670	Coarse metaphyseal trabecularization	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0009803	Short phalanx of finger	-	OMIM:615777
55315	SLC29A3	HP:0001084	Corneal arcus	4/10	OMIM:602782
55315	SLC29A3	HP:0001084	Corneal arcus	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0008479	Hypoplastic vertebral bodies	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0100694	Tibial torsion	4/8	OMIM:602782
55315	SLC29A3	HP:0009763	Limb pain	63/92	OMIM:131300
55315	SLC29A3	HP:0003621	Juvenile onset	-	OMIM:131300
55315	SLC29A3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55315	SLC29A3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55315	SLC29A3	HP:0000639	Nystagmus	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:6001056	Out-toeing	-	OMIM:131300
55315	SLC29A3	HP:0000651	Diplopia	-	OMIM:131300
55315	SLC29A3	HP:0000648	Optic atrophy	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0001945	Fever	2/3	OMIM:602782
55315	SLC29A3	HP:0001954	Recurrent fever	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0001956	Truncal obesity	2/7	OMIM:615777
55315	SLC29A3	HP:0001935	Microcytic anemia	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0001903	Anemia	HP:0040283	OMIM:131300
55315	SLC29A3	HP:0010049	Short metacarpal	-	OMIM:615777
55315	SLC29A3	HP:0000682	Abnormal dental enamel morphology	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0000678	Dental crowding	-	OMIM:615777
55315	SLC29A3	HP:0000670	Carious teeth	-	OMIM:131300
55315	SLC29A3	HP:0011304	Broad thumb	2/7	OMIM:615777
55315	SLC29A3	HP:0000668	Hypodontia	-	OMIM:615777
55315	SLC29A3	HP:0000664	Synophrys	-	OMIM:615777
55315	SLC29A3	HP:0004322	Short stature	4/7	OMIM:602782
55315	SLC29A3	HP:0004322	Short stature	HP:0040282	ORPHA:168569
55315	SLC29A3	HP:0004322	Short stature	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0004396	Poor appetite	-	OMIM:131300
55315	SLC29A3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55315	SLC29A3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55315	SLC29A3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55315	SLC29A3	HP:0003026	Short long bone	7/7	OMIM:615777
55315	SLC29A3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55315	SLC29A3	HP:0000771	Gynecomastia	1/2	OMIM:602782
55315	SLC29A3	HP:0000771	Gynecomastia	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55315	SLC29A3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55315	SLC29A3	HP:0012724	Upper eyelid edema	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55315	SLC29A3	HP:0000750	Delayed speech and language development	-	OMIM:615777
55315	SLC29A3	HP:0009183	Joint contracture of the 5th finger	2/2	OMIM:602782
55315	SLC29A3	HP:0012785	Flexion contracture of finger	4/4	OMIM:602782
55315	SLC29A3	HP:0011461	Fetal onset	7/7	OMIM:615777
55315	SLC29A3	HP:0009125	Lipodystrophy	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0000774	Narrow chest	2/7	OMIM:615777
55315	SLC29A3	HP:0000926	Platyspondyly	1/7	OMIM:615777
55315	SLC29A3	HP:0000926	Platyspondyly	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0003180	Flat acetabular roof	-	OMIM:615777
55315	SLC29A3	HP:0004482	Relative macrocephaly	-	OMIM:615777
55315	SLC29A3	HP:0004493	Craniofacial hyperostosis	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55315	SLC29A3	HP:0100324	Scleroderma	HP:0040281	ORPHA:168569
55315	SLC29A3	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:602782
55315	SLC29A3	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:602782
55315	SLC29A3	HP:0000823	Delayed puberty	-	OMIM:131300
55315	SLC29A3	HP:0000823	Delayed puberty	HP:0040281	ORPHA:168569
55315	SLC29A3	HP:0000894	Short clavicles	-	OMIM:615777
55315	SLC29A3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55315	SLC29A3	HP:0005830	Flexion contracture of toe	4/4	OMIM:602782
55315	SLC29A3	HP:0000998	Hypertrichosis	HP:0040282	ORPHA:168569
55315	SLC29A3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55315	SLC29A3	HP:0000953	Hyperpigmentation of the skin	9/12	OMIM:602782
55315	SLC29A3	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:168569
55315	SLC29A3	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0008064	Ichthyosis	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1782
55315	SLC29A3	HP:0011670	Left superior vena cava draining to coronary sinus	1/8	OMIM:602782
55315	SLC29A3	HP:0000286	Epicanthus	1/7	OMIM:615777
55315	SLC29A3	HP:0000280	Coarse facial features	2/7	OMIM:615777
55315	SLC29A3	HP:0000278	Retrognathia	1/2	OMIM:602782
55315	SLC29A3	HP:0000293	Full cheeks	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0001596	Alopecia	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0000256	Macrocephaly	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0002827	Hip dislocation	3/7	OMIM:615777
55315	SLC29A3	HP:0030084	Clinodactyly	2/4	OMIM:602782
55315	SLC29A3	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0000252	Microcephaly	-	OMIM:615777
55315	SLC29A3	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0002857	Genu valgum	-	OMIM:131300
55315	SLC29A3	HP:0001533	Slender build	-	OMIM:131300
55315	SLC29A3	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0030053	Stiff skin	HP:0040281	ORPHA:168569
55315	SLC29A3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55315	SLC29A3	HP:0007807	Optic nerve compression	-	OMIM:131300
55315	SLC29A3	HP:0012385	Camptodactyly	2/10	OMIM:602782
55315	SLC29A3	HP:0012385	Camptodactyly	HP:0040282	ORPHA:168569
55315	SLC29A3	HP:0012368	Flat face	7/7	OMIM:615777
55315	SLC29A3	HP:0011025	Abnormal cardiovascular system physiology	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0005200	Retroperitoneal fibrosis	HP:0040284	OMIM:602782
55315	SLC29A3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55315	SLC29A3	HP:0000365	Hearing impairment	4/4	OMIM:602782
55315	SLC29A3	HP:0000365	Hearing impairment	HP:0040282	ORPHA:168569
55315	SLC29A3	HP:0000365	Hearing impairment	10/67	OMIM:131300
55315	SLC29A3	HP:0000365	Hearing impairment	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0000343	Long philtrum	1/7	OMIM:615777
55315	SLC29A3	HP:0011001	Increased bone mineral density	-	OMIM:131300
55315	SLC29A3	HP:0011001	Increased bone mineral density	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0001643	Patent ductus arteriosus	1/8	OMIM:602782
55315	SLC29A3	HP:0000311	Round face	2/7	OMIM:615777
55315	SLC29A3	HP:0001642	Pulmonic stenosis	1/8	OMIM:602782
55315	SLC29A3	HP:0002987	Elbow flexion contracture	-	OMIM:602782
55315	SLC29A3	HP:0001629	Ventricular septal defect	1/10	OMIM:602782
55315	SLC29A3	HP:0001629	Ventricular septal defect	HP:0040281	ORPHA:1782
55315	SLC29A3	HP:0001640	Cardiomegaly	1/10	OMIM:602782
55315	SLC29A3	HP:0002970	Genu varum	-	OMIM:615777
55315	SLC29A3	HP:0001631	Atrial septal defect	2/10	OMIM:602782
55315	SLC29A3	HP:0000303	Mandibular prognathia	-	OMIM:131300
55315	SLC29A3	HP:0001634	Mitral valve prolapse	2/10	OMIM:602782
55315	SLC29A3	HP:0000407	Sensorineural hearing impairment	8/11	OMIM:602782
55315	SLC29A3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55315	SLC29A3	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:602782
55315	SLC29A3	HP:0000463	Anteverted nares	1/2	OMIM:602782
55315	SLC29A3	HP:0000470	Short neck	1/7	OMIM:615777
55315	SLC29A3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55315	SLC29A3	HP:0001763	Pes planus	2/4	OMIM:602782
55315	SLC29A3	HP:0001763	Pes planus	1/7	OMIM:615777
55315	SLC29A3	HP:0001763	Pes planus	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0001744	Splenomegaly	8/12	OMIM:602782
55315	SLC29A3	HP:0001840	Metatarsus adductus	-	OMIM:615777
55315	SLC29A3	HP:0000520	Proptosis	2/4	OMIM:131300
55315	SLC29A3	HP:0000520	Proptosis	8/21	OMIM:602782
55315	SLC29A3	HP:0000520	Proptosis	7/7	OMIM:615777
55315	SLC29A3	HP:0000520	Proptosis	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0001822	Hallux valgus	7/8	OMIM:602782
55315	SLC29A3	HP:0001822	Hallux valgus	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0001838	Rocker bottom foot	1/8	OMIM:602782
55315	SLC29A3	HP:0000592	Blue sclerae	2/7	OMIM:615777
55315	SLC29A3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55315	SLC29A3	HP:0000534	Abnormal eyebrow morphology	HP:0040283	ORPHA:168569
55315	SLC29A3	HP:0012514	Lower limb pain	4/4	OMIM:131300
55325	UFSP2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55325	UFSP2	HP:0001293	Cranial nerve compression	-	OMIM:131300
55325	UFSP2	HP:0001252	Hypotonia	7/8	OMIM:620028
55325	UFSP2	HP:0001252	Hypotonia	2/7	OMIM:615777
55325	UFSP2	HP:0001249	Intellectual disability	8/8	OMIM:620028
55325	UFSP2	HP:0001249	Intellectual disability	5/7	OMIM:615777
55325	UFSP2	HP:0001263	Global developmental delay	8/8	OMIM:620028
55325	UFSP2	HP:0001263	Global developmental delay	-	OMIM:615777
55325	UFSP2	HP:0001216	Delayed ossification of carpal bones	-	OMIM:617974
55325	UFSP2	HP:0002515	Waddling gait	54/102	OMIM:131300
55325	UFSP2	HP:0002515	Waddling gait	1/1	OMIM:617974
55325	UFSP2	HP:0002509	Limb hypertonia	1/8	OMIM:620028
55325	UFSP2	HP:0001385	Hip dysplasia	-	OMIM:142669
55325	UFSP2	HP:0001385	Hip dysplasia	HP:0040281	ORPHA:2114
55325	UFSP2	HP:0001382	Joint hypermobility	-	OMIM:615777
55325	UFSP2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55325	UFSP2	HP:0008897	Postnatal growth retardation	3/8	OMIM:620028
55325	UFSP2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55325	UFSP2	HP:0008833	Irregular acetabular roof	1/1	OMIM:617974
55325	UFSP2	HP:0008783	Wide proximal femoral metaphysis	-	OMIM:142669
55325	UFSP2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55325	UFSP2	HP:0001324	Muscle weakness	40/96	OMIM:131300
55325	UFSP2	HP:0001344	Absent speech	4/8	OMIM:620028
55325	UFSP2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55325	UFSP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55325	UFSP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620028
55325	UFSP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:142669
55325	UFSP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55325	UFSP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617974
55325	UFSP2	HP:0002650	Scoliosis	HP:0040283	ORPHA:2114
55325	UFSP2	HP:0002650	Scoliosis	12/14	OMIM:131300
55325	UFSP2	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:620028
55325	UFSP2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55325	UFSP2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55325	UFSP2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55325	UFSP2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55325	UFSP2	HP:0000175	Cleft palate	2/7	OMIM:615777
55325	UFSP2	HP:0002758	Osteoarthritis	HP:0040281	ORPHA:2114
55325	UFSP2	HP:0002758	Osteoarthritis	-	OMIM:142669
55325	UFSP2	HP:0002750	Delayed skeletal maturation	1/1	OMIM:617974
55325	UFSP2	HP:0002069	Bilateral tonic-clonic seizure	2/8	OMIM:620028
55325	UFSP2	HP:0003370	Flat capital femoral epiphysis	-	OMIM:142669
55325	UFSP2	HP:0003388	Easy fatigability	36/76	OMIM:131300
55325	UFSP2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55325	UFSP2	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2114
55325	UFSP2	HP:0011849	Abnormal bone ossification	HP:0040281	ORPHA:2114
55325	UFSP2	HP:0010574	Abnormality of the epiphysis of the femoral head	HP:0040281	ORPHA:2114
55325	UFSP2	HP:0002266	Focal clonic seizure	1/8	OMIM:620028
55325	UFSP2	HP:0003593	Infantile onset	7/8	OMIM:620028
55325	UFSP2	HP:0003593	Infantile onset	1/1	OMIM:617974
55325	UFSP2	HP:0003510	Severe short stature	7/7	OMIM:615777
55325	UFSP2	HP:0020045	Esodeviation	3/8	OMIM:620028
55325	UFSP2	HP:0002315	Headache	-	OMIM:131300
55325	UFSP2	HP:0004976	Knee dislocation	6/7	OMIM:615777
55325	UFSP2	HP:0009803	Short phalanx of finger	-	OMIM:615777
55325	UFSP2	HP:0009763	Limb pain	63/92	OMIM:131300
55325	UFSP2	HP:0003623	Neonatal onset	1/8	OMIM:620028
55325	UFSP2	HP:0003621	Juvenile onset	-	OMIM:131300
55325	UFSP2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55325	UFSP2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55325	UFSP2	HP:6001056	Out-toeing	-	OMIM:131300
55325	UFSP2	HP:0000651	Diplopia	-	OMIM:131300
55325	UFSP2	HP:0001956	Truncal obesity	2/7	OMIM:615777
55325	UFSP2	HP:0001903	Anemia	HP:0040283	OMIM:131300
55325	UFSP2	HP:0010049	Short metacarpal	-	OMIM:615777
55325	UFSP2	HP:0000678	Dental crowding	-	OMIM:615777
55325	UFSP2	HP:0000670	Carious teeth	-	OMIM:131300
55325	UFSP2	HP:0011304	Broad thumb	2/7	OMIM:615777
55325	UFSP2	HP:0000668	Hypodontia	-	OMIM:615777
55325	UFSP2	HP:0000664	Synophrys	-	OMIM:615777
55325	UFSP2	HP:0004322	Short stature	1/1	OMIM:617974
55325	UFSP2	HP:0004396	Poor appetite	-	OMIM:131300
55325	UFSP2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55325	UFSP2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55325	UFSP2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55325	UFSP2	HP:0003026	Short long bone	7/7	OMIM:615777
55325	UFSP2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55325	UFSP2	HP:0004349	Reduced bone mineral density	1/1	OMIM:617974
55325	UFSP2	HP:0004348	Abnormality of bone mineral density	HP:0040281	ORPHA:2114
55325	UFSP2	HP:0009107	Abnormal ossification involving the femoral head and neck	HP:0040281	ORPHA:2114
55325	UFSP2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55325	UFSP2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55325	UFSP2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55325	UFSP2	HP:0000750	Delayed speech and language development	-	OMIM:615777
55325	UFSP2	HP:0011463	Childhood onset	-	OMIM:142669
55325	UFSP2	HP:0011461	Fetal onset	7/7	OMIM:615777
55325	UFSP2	HP:0000774	Narrow chest	2/7	OMIM:615777
55325	UFSP2	HP:0005743	Avascular necrosis of the capital femoral epiphysis	-	OMIM:142669
55325	UFSP2	HP:0000926	Platyspondyly	1/7	OMIM:615777
55325	UFSP2	HP:0000926	Platyspondyly	-	OMIM:617974
55325	UFSP2	HP:0003182	Shallow acetabular fossae	-	OMIM:142669
55325	UFSP2	HP:0003180	Flat acetabular roof	-	OMIM:615777
55325	UFSP2	HP:0004482	Relative macrocephaly	-	OMIM:615777
55325	UFSP2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55325	UFSP2	HP:0000823	Delayed puberty	-	OMIM:131300
55325	UFSP2	HP:0000894	Short clavicles	-	OMIM:615777
55325	UFSP2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55325	UFSP2	HP:0100255	Metaphyseal dysplasia	1/1	OMIM:617974
55325	UFSP2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55325	UFSP2	HP:0000286	Epicanthus	1/7	OMIM:615777
55325	UFSP2	HP:0000280	Coarse facial features	2/7	OMIM:615777
55325	UFSP2	HP:0006429	Broad femoral neck	HP:0040281	ORPHA:2114
55325	UFSP2	HP:0006429	Broad femoral neck	-	OMIM:142669
55325	UFSP2	HP:0002812	Coxa vara	HP:0040283	ORPHA:2114
55325	UFSP2	HP:0002829	Arthralgia	-	OMIM:617974
55325	UFSP2	HP:0002827	Hip dislocation	3/7	OMIM:615777
55325	UFSP2	HP:0002808	Kyphosis	HP:0040283	ORPHA:2114
55325	UFSP2	HP:0005041	Irregular capital femoral epiphysis	-	OMIM:142669
55325	UFSP2	HP:0000252	Microcephaly	2/8	OMIM:620028
55325	UFSP2	HP:0000252	Microcephaly	-	OMIM:615777
55325	UFSP2	HP:0002857	Genu valgum	-	OMIM:131300
55325	UFSP2	HP:0001533	Slender build	-	OMIM:131300
55325	UFSP2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55325	UFSP2	HP:0007807	Optic nerve compression	-	OMIM:131300
55325	UFSP2	HP:0012368	Flat face	7/7	OMIM:615777
55325	UFSP2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55325	UFSP2	HP:0000365	Hearing impairment	10/67	OMIM:131300
55325	UFSP2	HP:0000343	Long philtrum	1/7	OMIM:615777
55325	UFSP2	HP:0011001	Increased bone mineral density	-	OMIM:131300
55325	UFSP2	HP:0032792	Tonic seizure	1/8	OMIM:620028
55325	UFSP2	HP:0002979	Bowing of the legs	1/1	OMIM:617974
55325	UFSP2	HP:0000311	Round face	2/7	OMIM:615777
55325	UFSP2	HP:0002970	Genu varum	-	OMIM:617974
55325	UFSP2	HP:0002970	Genu varum	-	OMIM:615777
55325	UFSP2	HP:0000303	Mandibular prognathia	-	OMIM:131300
55325	UFSP2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55325	UFSP2	HP:0012469	Infantile spasms	4/8	OMIM:620028
55325	UFSP2	HP:0000470	Short neck	1/7	OMIM:615777
55325	UFSP2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55325	UFSP2	HP:0001763	Pes planus	1/7	OMIM:615777
55325	UFSP2	HP:0001840	Metatarsus adductus	-	OMIM:615777
55325	UFSP2	HP:0000520	Proptosis	2/4	OMIM:131300
55325	UFSP2	HP:0000520	Proptosis	7/7	OMIM:615777
55325	UFSP2	HP:0000577	Exotropia	1/8	OMIM:620028
55325	UFSP2	HP:0000592	Blue sclerae	2/7	OMIM:615777
55325	UFSP2	HP:0000565	Esotropia	2/8	OMIM:620028
55325	UFSP2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55325	UFSP2	HP:0012514	Lower limb pain	4/4	OMIM:131300
55329	MNS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618948
55329	MNS1	HP:0030674	Antenatal onset	-	OMIM:618948
55329	MNS1	HP:0003251	Male infertility	3/3	OMIM:618948
55329	MNS1	HP:0001696	Situs inversus totalis	7/11	OMIM:618948
55329	MNS1	HP:0001651	Dextrocardia	5/7	OMIM:618948
55329	MNS1	HP:0000403	Recurrent otitis media	1/6	OMIM:618948
55329	MNS1	HP:0001746	Asplenia	1/7	OMIM:618948
55331	ACER3	HP:0007281	Developmental stagnation	2/2	OMIM:617762
55331	ACER3	HP:0010864	Intellectual disability, severe	2/2	OMIM:617762
55331	ACER3	HP:0002415	Leukodystrophy	2/2	OMIM:617762
55331	ACER3	HP:0001284	Areflexia	2/2	OMIM:617762
55331	ACER3	HP:0001332	Dystonia	2/2	OMIM:617762
55331	ACER3	HP:0000011	Neurogenic bladder	2/2	OMIM:617762
55331	ACER3	HP:0000007	Autosomal recessive inheritance	-	OMIM:617762
55331	ACER3	HP:0000179	Thick lower lip vermilion	2/2	OMIM:617762
55331	ACER3	HP:0008936	Axial hypotonia	2/2	OMIM:617762
55331	ACER3	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:617762
55331	ACER3	HP:0002059	Cerebral atrophy	1/1	OMIM:617762
55331	ACER3	HP:0003593	Infantile onset	2/2	OMIM:617762
55331	ACER3	HP:0002376	Developmental regression	2/2	OMIM:617762
55331	ACER3	HP:0003676	Progressive	-	OMIM:617762
55331	ACER3	HP:0009830	Peripheral neuropathy	2/2	OMIM:617762
55331	ACER3	HP:0004322	Short stature	2/2	OMIM:617762
55331	ACER3	HP:0004482	Relative macrocephaly	2/2	OMIM:617762
55331	ACER3	HP:0034392	Joint contracture	2/2	OMIM:617762
55331	ACER3	HP:0034353	Appendicular spasticity	2/2	OMIM:617762
55331	ACER3	HP:0000280	Coarse facial features	2/2	OMIM:617762
55331	ACER3	HP:0000369	Low-set ears	2/2	OMIM:617762
55331	ACER3	HP:0000340	Sloping forehead	2/2	OMIM:617762
55331	ACER3	HP:0000319	Smooth philtrum	2/2	OMIM:617762
55331	ACER3	HP:0000448	Prominent nose	2/2	OMIM:617762
55331	ACER3	HP:0000574	Thick eyebrow	2/2	OMIM:617762
55331	ACER3	HP:0000543	Optic disc pallor	2/2	OMIM:617762
55340	GIMAP5	HP:0000007	Autosomal recessive inheritance	-	OMIM:619463
55340	GIMAP5	HP:0001409	Portal hypertension	-	OMIM:619463
55340	GIMAP5	HP:0001402	Hepatocellular carcinoma	1/9	OMIM:619463
55340	GIMAP5	HP:0002719	Recurrent infections	1/9	OMIM:619463
55340	GIMAP5	HP:0030948	Elevated gamma-glutamyltransferase level	1/9	OMIM:619463
55340	GIMAP5	HP:0002040	Esophageal varix	7/9	OMIM:619463
55340	GIMAP5	HP:0002105	Hemoptysis	1/9	OMIM:619463
55340	GIMAP5	HP:0002240	Hepatomegaly	1/9	OMIM:619463
55340	GIMAP5	HP:0011954	Nodular regenerative hyperplasia of liver	2/5	OMIM:619463
55340	GIMAP5	HP:0003621	Juvenile onset	4/5	OMIM:619463
55340	GIMAP5	HP:0011463	Childhood onset	1/5	OMIM:619463
55340	GIMAP5	HP:0000967	Petechiae	1/9	OMIM:619463
55340	GIMAP5	HP:0001541	Ascites	2/9	OMIM:619463
55340	GIMAP5	HP:0031364	Ecchymosis	1/9	OMIM:619463
55340	GIMAP5	HP:0012378	Fatigue	2/9	OMIM:619463
55340	GIMAP5	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:619463
55340	GIMAP5	HP:0001744	Splenomegaly	9/9	OMIM:619463
55340	GIMAP5	HP:0000421	Epistaxis	1/9	OMIM:619463
55340	GIMAP5	HP:0001873	Thrombocytopenia	8/9	OMIM:619463
55343	SLC35C1	HP:0001169	Broad palm	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0001156	Brachydactyly	2/2	OMIM:266265
55343	SLC35C1	HP:0010864	Intellectual disability, severe	2/2	OMIM:266265
55343	SLC35C1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:99843
55343	SLC35C1	HP:0008551	Microtia	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55343	SLC35C1	HP:0001293	Cranial nerve compression	-	OMIM:131300
55343	SLC35C1	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0001250	Seizure	HP:0040282	ORPHA:99843
55343	SLC35C1	HP:0001252	Hypotonia	-	OMIM:266265
55343	SLC35C1	HP:0001252	Hypotonia	2/7	OMIM:615777
55343	SLC35C1	HP:0001251	Ataxia	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0001249	Intellectual disability	5/7	OMIM:615777
55343	SLC35C1	HP:0001263	Global developmental delay	2/2	OMIM:266265
55343	SLC35C1	HP:0001263	Global developmental delay	-	OMIM:615777
55343	SLC35C1	HP:0410292	Abnormal isohemagglutinin level	HP:0040281	ORPHA:99843
55343	SLC35C1	HP:0007333	Hypoplasia of the frontal lobes	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0001212	Prominent fingertip pads	2/2	OMIM:266265
55343	SLC35C1	HP:0002515	Waddling gait	54/102	OMIM:131300
55343	SLC35C1	HP:0001382	Joint hypermobility	-	OMIM:615777
55343	SLC35C1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55343	SLC35C1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55343	SLC35C1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55343	SLC35C1	HP:0001324	Muscle weakness	40/96	OMIM:131300
55343	SLC35C1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55343	SLC35C1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55343	SLC35C1	HP:0000007	Autosomal recessive inheritance	20/20	OMIM:266265
55343	SLC35C1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55343	SLC35C1	HP:0002650	Scoliosis	12/14	OMIM:131300
55343	SLC35C1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55343	SLC35C1	HP:0031123	Recurrent gastroenteritis	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55343	SLC35C1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55343	SLC35C1	HP:0000189	Narrow palate	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55343	SLC35C1	HP:0000166	Severe periodontitis	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0000175	Cleft palate	2/7	OMIM:615777
55343	SLC35C1	HP:0002719	Recurrent infections	HP:0040281	ORPHA:99843
55343	SLC35C1	HP:0003355	Aminoaciduria	0/2	OMIM:266265
55343	SLC35C1	HP:0002028	Chronic diarrhea	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0002002	Deep philtrum	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0100540	Palpebral edema	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0002090	Pneumonia	-	OMIM:266265
55343	SLC35C1	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:99843
55343	SLC35C1	HP:0003388	Easy fatigability	36/76	OMIM:131300
55343	SLC35C1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55343	SLC35C1	HP:0008155	Mucopolysacchariduria	0/2	OMIM:266265
55343	SLC35C1	HP:0010471	Oligosacchariduria	0/2	OMIM:266265
55343	SLC35C1	HP:0002120	Cerebral cortical atrophy	-	OMIM:266265
55343	SLC35C1	HP:0011897	Increased total neutrophil count	0/2	OMIM:266265
55343	SLC35C1	HP:0011897	Increased total neutrophil count	HP:0040281	ORPHA:99843
55343	SLC35C1	HP:0010529	Echolalia	1/2	OMIM:266265
55343	SLC35C1	HP:0003593	Infantile onset	2/2	OMIM:266265
55343	SLC35C1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0007041	Chronic lymphocytic meningitis	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0011950	Bronchiolitis	1/2	OMIM:266265
55343	SLC35C1	HP:0003510	Severe short stature	7/7	OMIM:615777
55343	SLC35C1	HP:0020045	Esodeviation	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:99843
55343	SLC35C1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/2	OMIM:266265
55343	SLC35C1	HP:0002315	Headache	-	OMIM:131300
55343	SLC35C1	HP:0004976	Knee dislocation	6/7	OMIM:615777
55343	SLC35C1	HP:0100658	Cellulitis	-	OMIM:266265
55343	SLC35C1	HP:0200037	Skin vesicle	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0009826	Limb undergrowth	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0010808	Protruding tongue	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0009803	Short phalanx of finger	-	OMIM:615777
55343	SLC35C1	HP:0200055	Small hand	2/2	OMIM:266265
55343	SLC35C1	HP:0100699	Scarring	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0009763	Limb pain	63/92	OMIM:131300
55343	SLC35C1	HP:0003621	Juvenile onset	-	OMIM:131300
55343	SLC35C1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55343	SLC35C1	HP:0006895	Lower limb hypertonia	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55343	SLC35C1	HP:0006887	Intellectual disability, progressive	-	OMIM:266265
55343	SLC35C1	HP:6001056	Out-toeing	-	OMIM:131300
55343	SLC35C1	HP:0000651	Diplopia	-	OMIM:131300
55343	SLC35C1	HP:0001974	Increased total leukocyte count	HP:0040281	ORPHA:99843
55343	SLC35C1	HP:0001954	Recurrent fever	HP:0040282	ORPHA:99843
55343	SLC35C1	HP:0001956	Truncal obesity	2/7	OMIM:615777
55343	SLC35C1	HP:0001935	Microcytic anemia	HP:0040282	ORPHA:99843
55343	SLC35C1	HP:0001903	Anemia	HP:0040283	OMIM:131300
55343	SLC35C1	HP:0001903	Anemia	HP:0040281	ORPHA:99843
55343	SLC35C1	HP:0010049	Short metacarpal	-	OMIM:615777
55343	SLC35C1	HP:0011341	Long upper lip	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0000678	Dental crowding	-	OMIM:615777
55343	SLC35C1	HP:0001992	Organic aciduria	0/2	OMIM:266265
55343	SLC35C1	HP:0000670	Carious teeth	-	OMIM:131300
55343	SLC35C1	HP:0011304	Broad thumb	2/7	OMIM:615777
55343	SLC35C1	HP:0000668	Hypodontia	-	OMIM:615777
55343	SLC35C1	HP:0000664	Synophrys	-	OMIM:615777
55343	SLC35C1	HP:0004322	Short stature	2/2	OMIM:266265
55343	SLC35C1	HP:0004322	Short stature	HP:0040281	ORPHA:99843
55343	SLC35C1	HP:0004396	Poor appetite	-	OMIM:131300
55343	SLC35C1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55343	SLC35C1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55343	SLC35C1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55343	SLC35C1	HP:0003026	Short long bone	7/7	OMIM:615777
55343	SLC35C1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55343	SLC35C1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55343	SLC35C1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55343	SLC35C1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55343	SLC35C1	HP:0000739	Anxiety	1/2	OMIM:266265
55343	SLC35C1	HP:0000750	Delayed speech and language development	2/2	OMIM:266265
55343	SLC35C1	HP:0000750	Delayed speech and language development	-	OMIM:615777
55343	SLC35C1	HP:0000717	Autism	1/2	OMIM:266265
55343	SLC35C1	HP:0000729	Autistic behavior	2/2	OMIM:266265
55343	SLC35C1	HP:0000729	Autistic behavior	HP:0040282	ORPHA:99843
55343	SLC35C1	HP:0000722	Compulsive behaviors	1/2	OMIM:266265
55343	SLC35C1	HP:0000704	Periodontitis	-	OMIM:266265
55343	SLC35C1	HP:0011461	Fetal onset	7/7	OMIM:615777
55343	SLC35C1	HP:0000774	Narrow chest	2/7	OMIM:615777
55343	SLC35C1	HP:0003112	Abnormal circulating amino acid concentration	0/2	OMIM:266265
55343	SLC35C1	HP:0000926	Platyspondyly	1/7	OMIM:615777
55343	SLC35C1	HP:0003180	Flat acetabular roof	-	OMIM:615777
55343	SLC35C1	HP:0004482	Relative macrocephaly	-	OMIM:615777
55343	SLC35C1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55343	SLC35C1	HP:0000823	Delayed puberty	-	OMIM:131300
55343	SLC35C1	HP:0000894	Short clavicles	-	OMIM:615777
55343	SLC35C1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55343	SLC35C1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55343	SLC35C1	HP:0000286	Epicanthus	1/7	OMIM:615777
55343	SLC35C1	HP:0000280	Coarse facial features	2/2	OMIM:266265
55343	SLC35C1	HP:0000280	Coarse facial features	HP:0040281	ORPHA:99843
55343	SLC35C1	HP:0000280	Coarse facial features	2/7	OMIM:615777
55343	SLC35C1	HP:0000294	Low anterior hairline	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0002827	Hip dislocation	3/7	OMIM:615777
55343	SLC35C1	HP:0001574	Abnormality of the integument	-	OMIM:266265
55343	SLC35C1	HP:0000252	Microcephaly	-	OMIM:266265
55343	SLC35C1	HP:0000252	Microcephaly	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0000252	Microcephaly	-	OMIM:615777
55343	SLC35C1	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0002857	Genu valgum	-	OMIM:131300
55343	SLC35C1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0001533	Slender build	-	OMIM:131300
55343	SLC35C1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:99843
55343	SLC35C1	HP:0001518	Small for gestational age	HP:0040282	ORPHA:99843
55343	SLC35C1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:99843
55343	SLC35C1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55343	SLC35C1	HP:0007807	Optic nerve compression	-	OMIM:131300
55343	SLC35C1	HP:0000385	Small earlobe	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0012368	Flat face	7/7	OMIM:615777
55343	SLC35C1	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55343	SLC35C1	HP:0006480	Premature loss of teeth	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0000365	Hearing impairment	10/67	OMIM:131300
55343	SLC35C1	HP:0000343	Long philtrum	1/7	OMIM:615777
55343	SLC35C1	HP:0011001	Increased bone mineral density	-	OMIM:131300
55343	SLC35C1	HP:0000349	Widow's peak	2/2	OMIM:266265
55343	SLC35C1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0000311	Round face	2/7	OMIM:615777
55343	SLC35C1	HP:0002970	Genu varum	-	OMIM:615777
55343	SLC35C1	HP:0000303	Mandibular prognathia	-	OMIM:131300
55343	SLC35C1	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0031629	Impaired tandem gait	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0000403	Recurrent otitis media	2/2	OMIM:266265
55343	SLC35C1	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55343	SLC35C1	HP:0000491	Keratitis	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0000457	Depressed nasal ridge	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0000470	Short neck	1/7	OMIM:615777
55343	SLC35C1	HP:0001773	Short foot	2/2	OMIM:266265
55343	SLC35C1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55343	SLC35C1	HP:0001763	Pes planus	1/7	OMIM:615777
55343	SLC35C1	HP:0000414	Bulbous nose	2/2	OMIM:266265
55343	SLC35C1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0005400	Reduction of neutrophil motility	-	OMIM:266265
55343	SLC35C1	HP:0001845	Overlapping toe	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0001840	Metatarsus adductus	-	OMIM:615777
55343	SLC35C1	HP:0000527	Long eyelashes	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0000520	Proptosis	2/4	OMIM:131300
55343	SLC35C1	HP:0000520	Proptosis	7/7	OMIM:615777
55343	SLC35C1	HP:0030352	Abnormal serum insulin-like growth factor 1 level	0/2	OMIM:266265
55343	SLC35C1	HP:0000592	Blue sclerae	2/7	OMIM:615777
55343	SLC35C1	HP:0011229	Broad eyebrow	HP:0040283	ORPHA:99843
55343	SLC35C1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55343	SLC35C1	HP:0012514	Lower limb pain	4/4	OMIM:131300
55361	PI4K2A	HP:0001270	Motor delay	4/4	OMIM:620732
55361	PI4K2A	HP:0001263	Global developmental delay	4/4	OMIM:620732
55361	PI4K2A	HP:0001257	Spasticity	2/2	OMIM:620732
55361	PI4K2A	HP:0002540	Inability to walk	4/4	OMIM:620732
55361	PI4K2A	HP:0002521	Hypsarrhythmia	1/4	OMIM:620732
55361	PI4K2A	HP:0002509	Limb hypertonia	2/2	OMIM:620732
55361	PI4K2A	HP:0001348	Brisk reflexes	4/4	OMIM:620732
55361	PI4K2A	HP:0001344	Absent speech	4/4	OMIM:620732
55361	PI4K2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:620732
55361	PI4K2A	HP:0001336	Myoclonus	2/4	OMIM:620732
55361	PI4K2A	HP:0008936	Axial hypotonia	4/4	OMIM:620732
55361	PI4K2A	HP:0012110	Hypoplasia of the pons	3/3	OMIM:620732
55361	PI4K2A	HP:0002719	Recurrent infections	1/4	OMIM:620732
55361	PI4K2A	HP:0002079	Hypoplasia of the corpus callosum	3/3	OMIM:620732
55361	PI4K2A	HP:0002046	Heat intolerance	2/2	OMIM:620732
55361	PI4K2A	HP:0002119	Ventriculomegaly	1/3	OMIM:620732
55361	PI4K2A	HP:0002197	Generalized-onset seizure	2/2	OMIM:620732
55361	PI4K2A	HP:0002179	Opisthotonus	2/4	OMIM:620732
55361	PI4K2A	HP:0003593	Infantile onset	4/4	OMIM:620732
55361	PI4K2A	HP:0002280	Enlarged cisterna magna	3/3	OMIM:620732
55361	PI4K2A	HP:0011968	Feeding difficulties	3/4	OMIM:620732
55361	PI4K2A	HP:0002365	Hypoplasia of the brainstem	3/3	OMIM:620732
55361	PI4K2A	HP:0002310	Orofacial dyskinesia	4/4	OMIM:620732
55361	PI4K2A	HP:0000601	Hypotelorism	2/4	OMIM:620732
55361	PI4K2A	HP:0031943	Akathisia	4/4	OMIM:620732
55361	PI4K2A	HP:0031960	Arm dystonia	3/3	OMIM:620732
55361	PI4K2A	HP:0000763	Sensory neuropathy	2/4	OMIM:620732
55361	PI4K2A	HP:0000737	Irritability	4/4	OMIM:620732
55361	PI4K2A	HP:0034295	Reduced cerebral white matter volume	2/3	OMIM:620732
55361	PI4K2A	HP:0003202	Skeletal muscle atrophy	2/4	OMIM:620732
55361	PI4K2A	HP:0000252	Microcephaly	0/4	OMIM:620732
55361	PI4K2A	HP:0031354	Sleep onset insomnia	2/2	OMIM:620732
55361	PI4K2A	HP:0001508	Failure to thrive	4/4	OMIM:620732
55361	PI4K2A	HP:0011097	Epileptic spasm	1/4	OMIM:620732
55361	PI4K2A	HP:0032792	Tonic seizure	1/4	OMIM:620732
55361	PI4K2A	HP:0000347	Micrognathia	2/4	OMIM:620732
55361	PI4K2A	HP:0032794	Myoclonic seizure	1/4	OMIM:620732
55361	PI4K2A	HP:0030303	Hypoplastic anterior commissure	1/3	OMIM:620732
55361	PI4K2A	HP:0000411	Protruding ear	2/4	OMIM:620732
55361	PI4K2A	HP:0001761	Pes cavus	2/4	OMIM:620732
55366	LGR4	HP:0000044	Hypogonadotropic hypogonadism	0/6	OMIM:619613
55366	LGR4	HP:0000006	Autosomal dominant inheritance	-	OMIM:619613
55366	LGR4	HP:0002750	Delayed skeletal maturation	-	OMIM:619613
55366	LGR4	HP:0000823	Delayed puberty	-	OMIM:619613
55366	LGR4	HP:0040171	Decreased serum testosterone concentration	-	OMIM:619613
55366	LGR4	HP:0030344	Decreased circulating luteinizing hormone level	-	OMIM:619613
55366	LGR4	HP:0030341	Decreased circulating follicle stimulating hormone concentration	-	OMIM:619613
55367	PIDD1	HP:0001250	Seizure	5/12	OMIM:619827
55367	PIDD1	HP:0001249	Intellectual disability	11/12	OMIM:619827
55367	PIDD1	HP:0001263	Global developmental delay	6/12	OMIM:619827
55367	PIDD1	HP:0001339	Lissencephaly	1/12	OMIM:619827
55367	PIDD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619827
55367	PIDD1	HP:0001302	Pachygyria	1/12	OMIM:619827
55367	PIDD1	HP:0012169	Self-biting	1/12	OMIM:619827
55367	PIDD1	HP:0012170	Nail-biting	2/12	OMIM:619827
55367	PIDD1	HP:0002069	Bilateral tonic-clonic seizure	1/12	OMIM:619827
55367	PIDD1	HP:0002067	Bradykinesia	2/12	OMIM:619827
55367	PIDD1	HP:0002197	Generalized-onset seizure	3/12	OMIM:619827
55367	PIDD1	HP:0003593	Infantile onset	4/9	OMIM:619827
55367	PIDD1	HP:0100716	Self-injurious behavior	2/12	OMIM:619827
55367	PIDD1	HP:0007018	Attention deficit hyperactivity disorder	5/12	OMIM:619827
55367	PIDD1	HP:0020045	Esodeviation	1/12	OMIM:619827
55367	PIDD1	HP:0002360	Sleep abnormality	3/12	OMIM:619827
55367	PIDD1	HP:0002354	Memory impairment	3/12	OMIM:619827
55367	PIDD1	HP:0007164	Slowed slurred speech	3/12	OMIM:619827
55367	PIDD1	HP:0003621	Juvenile onset	3/9	OMIM:619827
55367	PIDD1	HP:0000752	Hyperactivity	2/12	OMIM:619827
55367	PIDD1	HP:0000719	Inappropriate behavior	1/12	OMIM:619827
55367	PIDD1	HP:0000718	Aggressive behavior	6/12	OMIM:619827
55367	PIDD1	HP:0000709	Psychosis	3/12	OMIM:619827
55367	PIDD1	HP:0011463	Childhood onset	2/9	OMIM:619827
55367	PIDD1	HP:0000787	Nephrolithiasis	1/12	OMIM:619827
55367	PIDD1	HP:0000953	Hyperpigmentation of the skin	1/12	OMIM:619827
55367	PIDD1	HP:0000252	Microcephaly	1/12	OMIM:619827
55367	PIDD1	HP:0011198	EEG with generalized epileptiform discharges	2/12	OMIM:619827
55367	PIDD1	HP:0012471	Thick vermilion border	2/12	OMIM:619827
55367	PIDD1	HP:0000565	Esotropia	1/12	OMIM:619827
55384	MEG3	HP:0001181	Adducted thumb	HP:0040283	ORPHA:96334
55384	MEG3	HP:0008551	Microtia	HP:0040282	ORPHA:96334
55384	MEG3	HP:0001270	Motor delay	HP:0040281	ORPHA:96184
55384	MEG3	HP:0001270	Motor delay	HP:0040281	ORPHA:254531
55384	MEG3	HP:0001270	Motor delay	HP:0040281	ORPHA:254525
55384	MEG3	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:254534
55384	MEG3	HP:0001250	Seizure	HP:0040283	ORPHA:96334
55384	MEG3	HP:0001252	Hypotonia	HP:0040283	ORPHA:96334
55384	MEG3	HP:0001252	Hypotonia	HP:0040281	ORPHA:254531
55384	MEG3	HP:0001252	Hypotonia	HP:0040282	ORPHA:254534
55384	MEG3	HP:0001252	Hypotonia	HP:0040281	ORPHA:254525
55384	MEG3	HP:0001252	Hypotonia	HP:0040283	ORPHA:254528
55384	MEG3	HP:0001252	Hypotonia	HP:0040281	ORPHA:96184
55384	MEG3	HP:0001249	Intellectual disability	HP:0040283	ORPHA:254531
55384	MEG3	HP:0001249	Intellectual disability	HP:0040283	ORPHA:254525
55384	MEG3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:96184
55384	MEG3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:96334
55384	MEG3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:254534
55384	MEG3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:254528
55384	MEG3	HP:0002557	Hypoplastic nipples	HP:0040283	ORPHA:96334
55384	MEG3	HP:0001239	Wrist flexion contracture	HP:0040283	ORPHA:254528
55384	MEG3	HP:0100864	Short femoral neck	HP:0040283	ORPHA:96334
55384	MEG3	HP:0001220	Interphalangeal joint contracture of finger	HP:0040283	ORPHA:96334
55384	MEG3	HP:0001371	Flexion contracture	HP:0040282	ORPHA:96334
55384	MEG3	HP:0001371	Flexion contracture	HP:0040282	ORPHA:254528
55384	MEG3	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:254531
55384	MEG3	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:254528
55384	MEG3	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:96184
55384	MEG3	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:254528
55384	MEG3	HP:0002694	Sclerosis of skull base	HP:0040283	ORPHA:96334
55384	MEG3	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:96184
55384	MEG3	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:96334
55384	MEG3	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:96334
55384	MEG3	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:254531
55384	MEG3	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:254534
55384	MEG3	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:254525
55384	MEG3	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:254528
55384	MEG3	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:96184
55384	MEG3	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:254534
55384	MEG3	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:254525
55384	MEG3	HP:0002673	Coxa valga	HP:0040283	ORPHA:96334
55384	MEG3	HP:0001339	Lissencephaly	HP:0040283	ORPHA:96334
55384	MEG3	HP:0002650	Scoliosis	HP:0040283	ORPHA:96184
55384	MEG3	HP:0002650	Scoliosis	HP:0040283	ORPHA:96334
55384	MEG3	HP:0002650	Scoliosis	HP:0040283	ORPHA:254531
55384	MEG3	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:254525
55384	MEG3	HP:0002645	Wormian bones	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000194	Open mouth	HP:0040283	ORPHA:254528
55384	MEG3	HP:0000193	Bifid uvula	HP:0040283	ORPHA:96184
55384	MEG3	HP:0000160	Narrow mouth	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000160	Narrow mouth	HP:0040283	ORPHA:96184
55384	MEG3	HP:0000158	Macroglossia	HP:0040283	ORPHA:254528
55384	MEG3	HP:0000158	Macroglossia	HP:0040282	ORPHA:96334
55384	MEG3	HP:0000175	Cleft palate	HP:0040283	ORPHA:96184
55384	MEG3	HP:0007685	Peripheral retinal avascularization	HP:0040283	ORPHA:96334
55384	MEG3	HP:0008947	Floppy infant	HP:0040283	ORPHA:254531
55384	MEG3	HP:0006267	Large placenta	HP:0040281	ORPHA:254534
55384	MEG3	HP:0006267	Large placenta	HP:0040281	ORPHA:96334
55384	MEG3	HP:0006267	Large placenta	HP:0040282	ORPHA:254528
55384	MEG3	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:254525
55384	MEG3	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:254528
55384	MEG3	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:96334
55384	MEG3	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:96334
55384	MEG3	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:254525
55384	MEG3	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:96184
55384	MEG3	HP:0002033	Poor suck	HP:0040282	ORPHA:254534
55384	MEG3	HP:0002002	Deep philtrum	HP:0040282	ORPHA:96334
55384	MEG3	HP:0005989	Redundant neck skin	HP:0040283	ORPHA:254528
55384	MEG3	HP:0005989	Redundant neck skin	HP:0040283	ORPHA:96334
55384	MEG3	HP:0004673	Decreased facial expression	HP:0040283	ORPHA:254531
55384	MEG3	HP:0002007	Frontal bossing	HP:0040283	ORPHA:96334
55384	MEG3	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:96334
55384	MEG3	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:96334
55384	MEG3	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:96334
55384	MEG3	HP:0002057	Prominent glabella	HP:0040283	ORPHA:96334
55384	MEG3	HP:0009600	Thumb contracture	HP:0040283	ORPHA:96334
55384	MEG3	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:254534
55384	MEG3	HP:0010561	Undulate ribs	HP:0040283	ORPHA:96334
55384	MEG3	HP:0010511	Long toe	HP:0040283	ORPHA:254528
55384	MEG3	HP:0011823	Chin with horizontal crease	HP:0040282	ORPHA:96334
55384	MEG3	HP:0011824	Chin with H-shaped crease	HP:0040283	ORPHA:96334
55384	MEG3	HP:0002263	Exaggerated cupid's bow	HP:0040283	ORPHA:254528
55384	MEG3	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:96334
55384	MEG3	HP:0010655	Epiphyseal stippling	HP:0040283	ORPHA:96334
55384	MEG3	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:254531
55384	MEG3	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:96184
55384	MEG3	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:254525
55384	MEG3	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:96184
55384	MEG3	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:96334
55384	MEG3	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:254531
55384	MEG3	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:254528
55384	MEG3	HP:0009826	Limb undergrowth	HP:0040282	ORPHA:96334
55384	MEG3	HP:0009832	Abnormal distal phalanx morphology of finger	HP:0040283	ORPHA:96334
55384	MEG3	HP:0009836	Broad distal phalanx of finger	HP:0040283	ORPHA:96334
55384	MEG3	HP:0010804	Tented upper lip vermilion	HP:0040283	ORPHA:96334
55384	MEG3	HP:0009824	Upper limb undergrowth	HP:0040283	ORPHA:96334
55384	MEG3	HP:0200055	Small hand	HP:0040281	ORPHA:254531
55384	MEG3	HP:0200055	Small hand	HP:0040281	ORPHA:254525
55384	MEG3	HP:0200055	Small hand	HP:0040281	ORPHA:96184
55384	MEG3	HP:0002307	Drooling	HP:0040283	ORPHA:96334
55384	MEG3	HP:0004904	Maturity-onset diabetes of the young	HP:0040283	ORPHA:96184
55384	MEG3	HP:0004904	Maturity-onset diabetes of the young	HP:0040283	ORPHA:254531
55384	MEG3	HP:0031878	Acromicria	HP:0040283	ORPHA:254525
55384	MEG3	HP:0004299	Hernia of the abdominal wall	HP:0040283	ORPHA:96334
55384	MEG3	HP:0001956	Truncal obesity	HP:0040282	ORPHA:96184
55384	MEG3	HP:0010034	Short 1st metacarpal	HP:0040283	ORPHA:96334
55384	MEG3	HP:0011344	Severe global developmental delay	HP:0040283	ORPHA:96334
55384	MEG3	HP:0011335	Frontal hirsutism	HP:0040282	ORPHA:96334
55384	MEG3	HP:0011343	Moderate global developmental delay	HP:0040283	ORPHA:96334
55384	MEG3	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:96334
55384	MEG3	HP:0004322	Short stature	HP:0040283	ORPHA:96334
55384	MEG3	HP:0004322	Short stature	HP:0040282	ORPHA:96184
55384	MEG3	HP:0003049	Ulnar deviation of the wrist	HP:0040283	ORPHA:96334
55384	MEG3	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:96334
55384	MEG3	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:254528
55384	MEG3	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:96334
55384	MEG3	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:96184
55384	MEG3	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:254531
55384	MEG3	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:254525
55384	MEG3	HP:0000729	Autistic behavior	HP:0040283	ORPHA:254531
55384	MEG3	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:96334
55384	MEG3	HP:0012785	Flexion contracture of finger	HP:0040283	ORPHA:254528
55384	MEG3	HP:0000774	Narrow chest	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000773	Short ribs	HP:0040283	ORPHA:96334
55384	MEG3	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:254531
55384	MEG3	HP:0003124	Hypercholesterolemia	HP:0040283	ORPHA:254531
55384	MEG3	HP:0003124	Hypercholesterolemia	HP:0040283	ORPHA:96184
55384	MEG3	HP:0004415	Pulmonary artery stenosis	HP:0040283	ORPHA:96334
55384	MEG3	HP:0005736	Short tibia	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000919	Abnormality of the costochondral junction	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000924	Abnormality of the skeletal system	HP:0040282	ORPHA:96334
55384	MEG3	HP:0003186	Inverted nipples	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000907	Anterior rib cupping	HP:0040283	ORPHA:96334
55384	MEG3	HP:0004482	Relative macrocephaly	HP:0040283	ORPHA:254525
55384	MEG3	HP:0000882	Hypoplastic scapulae	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000890	Long clavicles	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000884	Prominent sternum	HP:0040283	ORPHA:254528
55384	MEG3	HP:0000884	Prominent sternum	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000817	Reduced eye contact	HP:0040283	ORPHA:254531
55384	MEG3	HP:0000826	Precocious puberty	HP:0040282	ORPHA:254531
55384	MEG3	HP:0000826	Precocious puberty	HP:0040281	ORPHA:96184
55384	MEG3	HP:0000826	Precocious puberty	HP:0040283	ORPHA:254525
55384	MEG3	HP:0040024	Clinodactyly of the 3rd finger	HP:0040283	ORPHA:96334
55384	MEG3	HP:0003241	External genital hypoplasia	HP:0040283	ORPHA:96334
55384	MEG3	HP:0010301	Spinal dysraphism	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000973	Cutis laxa	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:254528
55384	MEG3	HP:0045025	Narrow palpebral fissure	HP:0040283	ORPHA:254528
55384	MEG3	HP:0000946	Hypoplastic ilia	HP:0040283	ORPHA:96334
55384	MEG3	HP:0012284	Small proximal tibial epiphyses	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000286	Epicanthus	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000286	Epicanthus	HP:0040283	ORPHA:254528
55384	MEG3	HP:0000278	Retrognathia	HP:0040282	ORPHA:96334
55384	MEG3	HP:0000278	Retrognathia	HP:0040283	ORPHA:254528
55384	MEG3	HP:0000293	Full cheeks	HP:0040283	ORPHA:96184
55384	MEG3	HP:0000260	Wide anterior fontanel	HP:0040283	ORPHA:96334
55384	MEG3	HP:0030084	Clinodactyly	HP:0040283	ORPHA:254531
55384	MEG3	HP:0030084	Clinodactyly	HP:0040283	ORPHA:254525
55384	MEG3	HP:0030084	Clinodactyly	HP:0040283	ORPHA:96184
55384	MEG3	HP:0005054	Metaphyseal spurs	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000252	Microcephaly	HP:0040283	ORPHA:96334
55384	MEG3	HP:0002884	Hepatoblastoma	HP:0040283	ORPHA:96334
55384	MEG3	HP:0001548	Overgrowth	HP:0040283	ORPHA:254534
55384	MEG3	HP:0001548	Overgrowth	HP:0040284	ORPHA:96334
55384	MEG3	HP:0002878	Respiratory failure	HP:0040282	ORPHA:254528
55384	MEG3	HP:0002878	Respiratory failure	HP:0040282	ORPHA:96334
55384	MEG3	HP:0000218	High palate	HP:0040283	ORPHA:96184
55384	MEG3	HP:0000218	High palate	HP:0040283	ORPHA:254531
55384	MEG3	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:96334
55384	MEG3	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:254534
55384	MEG3	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:254528
55384	MEG3	HP:0001540	Diastasis recti	HP:0040282	ORPHA:254534
55384	MEG3	HP:0001540	Diastasis recti	HP:0040282	ORPHA:254528
55384	MEG3	HP:0001540	Diastasis recti	HP:0040282	ORPHA:96334
55384	MEG3	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:254534
55384	MEG3	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:254528
55384	MEG3	HP:0001539	Omphalocele	HP:0040283	ORPHA:254534
55384	MEG3	HP:0001539	Omphalocele	HP:0040283	ORPHA:254528
55384	MEG3	HP:0001539	Omphalocele	HP:0040283	ORPHA:96334
55384	MEG3	HP:0001538	Protuberant abdomen	HP:0040283	ORPHA:96334
55384	MEG3	HP:0002866	Hypoplastic iliac wing	HP:0040282	ORPHA:96334
55384	MEG3	HP:0001520	Large for gestational age	HP:0040282	ORPHA:254534
55384	MEG3	HP:0001520	Large for gestational age	HP:0040283	ORPHA:96334
55384	MEG3	HP:0001518	Small for gestational age	HP:0040283	ORPHA:254534
55384	MEG3	HP:0001518	Small for gestational age	HP:0040282	ORPHA:96184
55384	MEG3	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:254531
55384	MEG3	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:254525
55384	MEG3	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:254528
55384	MEG3	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:96184
55384	MEG3	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:96334
55384	MEG3	HP:0001510	Growth delay	HP:0040282	ORPHA:96334
55384	MEG3	HP:0001513	Obesity	HP:0040282	ORPHA:254531
55384	MEG3	HP:0001513	Obesity	HP:0040283	ORPHA:254525
55384	MEG3	HP:0001513	Obesity	HP:0040282	ORPHA:96184
55384	MEG3	HP:0012385	Camptodactyly	HP:0040283	ORPHA:96334
55384	MEG3	HP:0012385	Camptodactyly	HP:0040283	ORPHA:254528
55384	MEG3	HP:0005257	Thoracic hypoplasia	HP:0040281	ORPHA:254534
55384	MEG3	HP:0005257	Thoracic hypoplasia	HP:0040281	ORPHA:254528
55384	MEG3	HP:0005257	Thoracic hypoplasia	HP:0040282	ORPHA:96334
55384	MEG3	HP:0006591	Absent glenoid fossa	HP:0040283	ORPHA:96334
55384	MEG3	HP:0005268	Miscarriage	HP:0040282	ORPHA:96334
55384	MEG3	HP:0002937	Hemivertebrae	HP:0040283	ORPHA:96334
55384	MEG3	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:254528
55384	MEG3	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:96334
55384	MEG3	HP:0001615	Hoarse cry	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:254525
55384	MEG3	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000341	Narrow forehead	HP:0040283	ORPHA:254528
55384	MEG3	HP:0000343	Long philtrum	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000337	Broad forehead	HP:0040283	ORPHA:254528
55384	MEG3	HP:0000347	Micrognathia	HP:0040283	ORPHA:96184
55384	MEG3	HP:0000347	Micrognathia	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000347	Micrognathia	HP:0040283	ORPHA:254531
55384	MEG3	HP:0000347	Micrognathia	HP:0040283	ORPHA:254525
55384	MEG3	HP:0002982	Tibial bowing	HP:0040283	ORPHA:96334
55384	MEG3	HP:0012303	Abnormal aortic arch morphology	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000322	Short philtrum	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000322	Short philtrum	HP:0040283	ORPHA:254531
55384	MEG3	HP:0000322	Short philtrum	HP:0040283	ORPHA:96184
55384	MEG3	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:254534
55384	MEG3	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:96334
55384	MEG3	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:254534
55384	MEG3	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:254525
55384	MEG3	HP:0001622	Premature birth	HP:0040282	ORPHA:96334
55384	MEG3	HP:0001622	Premature birth	HP:0040282	ORPHA:96184
55384	MEG3	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:96334
55384	MEG3	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:96334
55384	MEG3	HP:0006610	Wide intermamillary distance	HP:0040283	ORPHA:96334
55384	MEG3	HP:0006665	Coat hanger sign of ribs	HP:0040281	ORPHA:254534
55384	MEG3	HP:0006665	Coat hanger sign of ribs	HP:0040280	ORPHA:96334
55384	MEG3	HP:0006665	Coat hanger sign of ribs	HP:0040281	ORPHA:254528
55384	MEG3	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:254531
55384	MEG3	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:96184
55384	MEG3	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:254528
55384	MEG3	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:96184
55384	MEG3	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:96334
55384	MEG3	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000490	Deeply set eye	HP:0040283	ORPHA:96334
55384	MEG3	HP:0001792	Small nail	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000463	Anteverted nares	HP:0040283	ORPHA:254528
55384	MEG3	HP:0000463	Anteverted nares	HP:0040283	ORPHA:96184
55384	MEG3	HP:0000463	Anteverted nares	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000470	Short neck	HP:0040282	ORPHA:96334
55384	MEG3	HP:0001773	Short foot	HP:0040281	ORPHA:254531
55384	MEG3	HP:0001773	Short foot	HP:0040281	ORPHA:254525
55384	MEG3	HP:0001773	Short foot	HP:0040281	ORPHA:96184
55384	MEG3	HP:0012428	Prominent calcaneus	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000445	Wide nose	HP:0040283	ORPHA:254531
55384	MEG3	HP:0000445	Wide nose	HP:0040283	ORPHA:96184
55384	MEG3	HP:0000445	Wide nose	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:96334
55384	MEG3	HP:0001845	Overlapping toe	HP:0040283	ORPHA:254528
55384	MEG3	HP:0001840	Metatarsus adductus	HP:0040283	ORPHA:96334
55384	MEG3	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:96334
55384	MEG3	HP:0011220	Prominent forehead	HP:0040282	ORPHA:254531
55384	MEG3	HP:0011220	Prominent forehead	HP:0040282	ORPHA:254525
55384	MEG3	HP:0011220	Prominent forehead	HP:0040283	ORPHA:96184
55384	MEG3	HP:0000565	Esotropia	HP:0040283	ORPHA:254528
55388	MCM10	HP:0010976	Decreased total B cell count	1/1	OMIM:619313
55388	MCM10	HP:0000007	Autosomal recessive inheritance	-	OMIM:619313
55388	MCM10	HP:0006270	Hypoplastic spleen	3/3	OMIM:619313
55388	MCM10	HP:0002721	Immunodeficiency	1/1	OMIM:619313
55388	MCM10	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	1/1	OMIM:619313
55388	MCM10	HP:0002014	Diarrhea	1/1	OMIM:619313
55388	MCM10	HP:0002155	Hypertriglyceridemia	1/1	OMIM:619313
55388	MCM10	HP:0011900	Hypofibrinogenemia	1/1	OMIM:619313
55388	MCM10	HP:0001945	Fever	1/1	OMIM:619313
55388	MCM10	HP:0011461	Fetal onset	3/3	OMIM:619313
55388	MCM10	HP:0000778	Hypoplasia of the thymus	3/3	OMIM:619313
55388	MCM10	HP:0030718	Right atrial enlargement	3/3	OMIM:619313
55388	MCM10	HP:0040218	Reduced total natural killer cell count	1/1	OMIM:619313
55388	MCM10	HP:0003281	Increased circulating ferritin concentration	1/1	OMIM:619313
55388	MCM10	HP:0031382	Decreased anti-CD3/28-induced T-cell proliferation	0/1	OMIM:619313
55388	MCM10	HP:0001698	Pericardial effusion	3/3	OMIM:619313
55388	MCM10	HP:0001723	Restrictive cardiomyopathy	3/3	OMIM:619313
55388	MCM10	HP:0001706	Endocardial fibroelastosis	3/3	OMIM:619313
55388	MCM10	HP:0001790	Nonimmune hydrops fetalis	3/3	OMIM:619313
55388	MCM10	HP:0005403	Decreased total T cell count	1/1	OMIM:619313
55388	MCM10	HP:0031692	Severe cytomegalovirus infection	1/1	OMIM:619313
55503	TRPV6	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55503	TRPV6	HP:0001297	Stroke	1/6	OMIM:618188
55503	TRPV6	HP:0001293	Cranial nerve compression	-	OMIM:131300
55503	TRPV6	HP:0001270	Motor delay	3/6	OMIM:618188
55503	TRPV6	HP:0001252	Hypotonia	HP:0040281	ORPHA:417
55503	TRPV6	HP:0001252	Hypotonia	2/7	OMIM:615777
55503	TRPV6	HP:0001249	Intellectual disability	5/7	OMIM:615777
55503	TRPV6	HP:0001263	Global developmental delay	-	OMIM:615777
55503	TRPV6	HP:0002515	Waddling gait	54/102	OMIM:131300
55503	TRPV6	HP:0001382	Joint hypermobility	-	OMIM:615777
55503	TRPV6	HP:0000023	Inguinal hernia	1/6	OMIM:618188
55503	TRPV6	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55503	TRPV6	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55503	TRPV6	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55503	TRPV6	HP:0001324	Muscle weakness	40/96	OMIM:131300
55503	TRPV6	HP:0001344	Absent speech	1/6	OMIM:618188
55503	TRPV6	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55503	TRPV6	HP:0000007	Autosomal recessive inheritance	-	OMIM:618188
55503	TRPV6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55503	TRPV6	HP:0001334	Communicating hydrocephalus	1/6	OMIM:618188
55503	TRPV6	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55503	TRPV6	HP:0002650	Scoliosis	12/14	OMIM:131300
55503	TRPV6	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55503	TRPV6	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55503	TRPV6	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55503	TRPV6	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55503	TRPV6	HP:0000175	Cleft palate	2/7	OMIM:615777
55503	TRPV6	HP:0000138	Ovarian cyst	1/6	OMIM:618188
55503	TRPV6	HP:0000122	Unilateral renal agenesis	1/6	OMIM:618188
55503	TRPV6	HP:0002757	Recurrent fractures	1/6	OMIM:618188
55503	TRPV6	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:417
55503	TRPV6	HP:0000105	Enlarged kidney	1/6	OMIM:618188
55503	TRPV6	HP:0003355	Aminoaciduria	HP:0040281	ORPHA:417
55503	TRPV6	HP:0002020	Gastroesophageal reflux	1/6	OMIM:618188
55503	TRPV6	HP:0002027	Abdominal pain	HP:0040281	ORPHA:676
55503	TRPV6	HP:0002007	Frontal bossing	1/6	OMIM:618188
55503	TRPV6	HP:0100530	Abnormal circulating calcium-phosphate regulating hormone concentration	HP:0040281	ORPHA:417
55503	TRPV6	HP:0002098	Respiratory distress	-	OMIM:618188
55503	TRPV6	HP:0003388	Easy fatigability	36/76	OMIM:131300
55503	TRPV6	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55503	TRPV6	HP:0002119	Ventriculomegaly	1/6	OMIM:618188
55503	TRPV6	HP:0010561	Undulate ribs	1/6	OMIM:618188
55503	TRPV6	HP:0010537	Wide cranial sutures	1/6	OMIM:618188
55503	TRPV6	HP:0003577	Congenital onset	1/6	OMIM:618188
55503	TRPV6	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:417
55503	TRPV6	HP:0011968	Feeding difficulties	3/6	OMIM:618188
55503	TRPV6	HP:0003510	Severe short stature	7/7	OMIM:615777
55503	TRPV6	HP:0002315	Headache	-	OMIM:131300
55503	TRPV6	HP:0004976	Knee dislocation	6/7	OMIM:615777
55503	TRPV6	HP:0009803	Short phalanx of finger	-	OMIM:615777
55503	TRPV6	HP:0009763	Limb pain	63/92	OMIM:131300
55503	TRPV6	HP:0003621	Juvenile onset	-	OMIM:131300
55503	TRPV6	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55503	TRPV6	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55503	TRPV6	HP:6001056	Out-toeing	-	OMIM:131300
55503	TRPV6	HP:0000651	Diplopia	-	OMIM:131300
55503	TRPV6	HP:0001974	Increased total leukocyte count	HP:0040281	ORPHA:676
55503	TRPV6	HP:0001956	Truncal obesity	2/7	OMIM:615777
55503	TRPV6	HP:0001903	Anemia	HP:0040283	OMIM:131300
55503	TRPV6	HP:0010049	Short metacarpal	-	OMIM:615777
55503	TRPV6	HP:0000678	Dental crowding	-	OMIM:615777
55503	TRPV6	HP:0041159	Fractured rib	1/6	OMIM:618188
55503	TRPV6	HP:0000670	Carious teeth	-	OMIM:131300
55503	TRPV6	HP:0011304	Broad thumb	2/7	OMIM:615777
55503	TRPV6	HP:0000668	Hypodontia	-	OMIM:615777
55503	TRPV6	HP:0000664	Synophrys	-	OMIM:615777
55503	TRPV6	HP:0004322	Short stature	HP:0040281	ORPHA:417
55503	TRPV6	HP:0006934	Congenital nystagmus	1/6	OMIM:618188
55503	TRPV6	HP:0004396	Poor appetite	-	OMIM:131300
55503	TRPV6	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55503	TRPV6	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55503	TRPV6	HP:0034197	Third trimester onset	5/6	OMIM:618188
55503	TRPV6	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55503	TRPV6	HP:0003026	Short long bone	1/6	OMIM:618188
55503	TRPV6	HP:0003026	Short long bone	7/7	OMIM:615777
55503	TRPV6	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55503	TRPV6	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55503	TRPV6	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55503	TRPV6	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55503	TRPV6	HP:0100027	Recurrent pancreatitis	HP:0040281	ORPHA:676
55503	TRPV6	HP:0000750	Delayed speech and language development	1/6	OMIM:618188
55503	TRPV6	HP:0000750	Delayed speech and language development	-	OMIM:615777
55503	TRPV6	HP:0011461	Fetal onset	7/7	OMIM:615777
55503	TRPV6	HP:0000774	Narrow chest	1/6	OMIM:618188
55503	TRPV6	HP:0000774	Narrow chest	HP:0040281	ORPHA:417
55503	TRPV6	HP:0000774	Narrow chest	2/7	OMIM:615777
55503	TRPV6	HP:0000773	Short ribs	2/12	OMIM:618188
55503	TRPV6	HP:0003194	Short nasal bridge	1/6	OMIM:618188
55503	TRPV6	HP:0000926	Platyspondyly	1/7	OMIM:615777
55503	TRPV6	HP:0003180	Flat acetabular roof	-	OMIM:615777
55503	TRPV6	HP:0003155	Elevated circulating alkaline phosphatase concentration	6/6	OMIM:618188
55503	TRPV6	HP:0004482	Relative macrocephaly	-	OMIM:615777
55503	TRPV6	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55503	TRPV6	HP:0000883	Thin ribs	1/6	OMIM:618188
55503	TRPV6	HP:0000843	Hyperparathyroidism	6/6	OMIM:618188
55503	TRPV6	HP:0003097	Short femur	1/6	OMIM:618188
55503	TRPV6	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:676
55503	TRPV6	HP:0000823	Delayed puberty	-	OMIM:131300
55503	TRPV6	HP:0000820	Abnormality of the thyroid gland	HP:0040281	ORPHA:417
55503	TRPV6	HP:0000894	Short clavicles	-	OMIM:615777
55503	TRPV6	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55503	TRPV6	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55503	TRPV6	HP:0000952	Jaundice	HP:0040283	ORPHA:676
55503	TRPV6	HP:0000938	Osteopenia	2/6	OMIM:618188
55503	TRPV6	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:417
55503	TRPV6	HP:0000286	Epicanthus	1/7	OMIM:615777
55503	TRPV6	HP:0000280	Coarse facial features	2/7	OMIM:615777
55503	TRPV6	HP:0002827	Hip dislocation	3/7	OMIM:615777
55503	TRPV6	HP:0005054	Metaphyseal spurs	1/6	OMIM:618188
55503	TRPV6	HP:0000252	Microcephaly	-	OMIM:615777
55503	TRPV6	HP:0000248	Brachycephaly	1/6	OMIM:618188
55503	TRPV6	HP:0001561	Polyhydramnios	3/6	OMIM:618188
55503	TRPV6	HP:0002857	Genu valgum	-	OMIM:131300
55503	TRPV6	HP:0001537	Umbilical hernia	1/6	OMIM:618188
55503	TRPV6	HP:0001533	Slender build	-	OMIM:131300
55503	TRPV6	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55503	TRPV6	HP:0007807	Optic nerve compression	-	OMIM:131300
55503	TRPV6	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040282	ORPHA:676
55503	TRPV6	HP:0012368	Flat face	7/7	OMIM:615777
55503	TRPV6	HP:0005213	Pancreatic calcification	HP:0040283	ORPHA:676
55503	TRPV6	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55503	TRPV6	HP:0000365	Hearing impairment	10/67	OMIM:131300
55503	TRPV6	HP:0000369	Low-set ears	1/6	OMIM:618188
55503	TRPV6	HP:0000343	Long philtrum	1/7	OMIM:615777
55503	TRPV6	HP:0011001	Increased bone mineral density	-	OMIM:131300
55503	TRPV6	HP:0000348	High forehead	1/6	OMIM:618188
55503	TRPV6	HP:0002980	Femoral bowing	3/12	OMIM:618188
55503	TRPV6	HP:0001643	Patent ductus arteriosus	1/6	OMIM:618188
55503	TRPV6	HP:0000311	Round face	2/7	OMIM:615777
55503	TRPV6	HP:0031485	Subperiosteal bone formation	1/6	OMIM:618188
55503	TRPV6	HP:0002970	Genu varum	-	OMIM:615777
55503	TRPV6	HP:0000303	Mandibular prognathia	-	OMIM:131300
55503	TRPV6	HP:0005280	Depressed nasal bridge	1/6	OMIM:618188
55503	TRPV6	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55503	TRPV6	HP:0000463	Anteverted nares	1/6	OMIM:618188
55503	TRPV6	HP:0030247	Splanchnic vein thrombosis	HP:0040283	ORPHA:676
55503	TRPV6	HP:0000470	Short neck	1/7	OMIM:615777
55503	TRPV6	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55503	TRPV6	HP:0001763	Pes planus	1/7	OMIM:615777
55503	TRPV6	HP:0001744	Splenomegaly	HP:0040281	ORPHA:417
55503	TRPV6	HP:0000431	Wide nasal bridge	1/6	OMIM:618188
55503	TRPV6	HP:0030423	Splenic cyst	1/6	OMIM:618188
55503	TRPV6	HP:0001840	Metatarsus adductus	-	OMIM:615777
55503	TRPV6	HP:0000520	Proptosis	2/4	OMIM:131300
55503	TRPV6	HP:0000520	Proptosis	7/7	OMIM:615777
55503	TRPV6	HP:0000592	Blue sclerae	2/7	OMIM:615777
55503	TRPV6	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040281	ORPHA:676
55503	TRPV6	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55503	TRPV6	HP:0012514	Lower limb pain	4/4	OMIM:131300
55505	NOP10	HP:0009926	Epiphora	-	OMIM:224230
55505	NOP10	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:1775
55505	NOP10	HP:0001249	Intellectual disability	-	OMIM:224230
55505	NOP10	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1775
55505	NOP10	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1775
55505	NOP10	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1775
55505	NOP10	HP:0008661	Urethral stenosis	HP:0040282	ORPHA:1775
55505	NOP10	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:1775
55505	NOP10	HP:0003819	Death in childhood	2/2	OMIM:620425
55505	NOP10	HP:0000097	Focal segmental glomerulosclerosis	1/2	OMIM:620425
55505	NOP10	HP:0001399	Hepatic failure	HP:0040283	ORPHA:1775
55505	NOP10	HP:0001395	Hepatic fibrosis	-	OMIM:224230
55505	NOP10	HP:0001394	Cirrhosis	HP:0040283	ORPHA:1775
55505	NOP10	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:1775
55505	NOP10	HP:0002664	Neoplasm	HP:0040282	ORPHA:1775
55505	NOP10	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040282	ORPHA:1775
55505	NOP10	HP:0000007	Autosomal recessive inheritance	-	OMIM:620425
55505	NOP10	HP:0000007	Autosomal recessive inheritance	-	OMIM:224230
55505	NOP10	HP:0002665	Lymphoma	HP:0040283	ORPHA:1775
55505	NOP10	HP:0000006	Autosomal dominant inheritance	-	OMIM:620400
55505	NOP10	HP:0002650	Scoliosis	HP:0040283	ORPHA:1775
55505	NOP10	HP:0001321	Cerebellar hypoplasia	1/2	OMIM:620425
55505	NOP10	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:1775
55505	NOP10	HP:0007588	Reticular hyperpigmentation	3/3	OMIM:224230
55505	NOP10	HP:0000100	Nephrotic syndrome	2/2	OMIM:620425
55505	NOP10	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:1775
55505	NOP10	HP:0002745	Oral leukoplakia	0/3	OMIM:224230
55505	NOP10	HP:0002745	Oral leukoplakia	HP:0040281	ORPHA:1775
55505	NOP10	HP:0002024	Malabsorption	HP:0040282	ORPHA:1775
55505	NOP10	HP:0002043	Esophageal stricture	-	OMIM:224230
55505	NOP10	HP:0010450	Esophageal stenosis	HP:0040282	ORPHA:1775
55505	NOP10	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:1775
55505	NOP10	HP:0003429	CNS hypomyelination	1/2	OMIM:620425
55505	NOP10	HP:0002165	Nail pterygium	-	OMIM:224230
55505	NOP10	HP:0003577	Congenital onset	2/2	OMIM:620425
55505	NOP10	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:1775
55505	NOP10	HP:0003581	Adult onset	4/4	OMIM:620400
55505	NOP10	HP:0002216	Premature graying of hair	HP:0040283	ORPHA:1775
55505	NOP10	HP:0002209	Sparse scalp hair	-	OMIM:224230
55505	NOP10	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1775
55505	NOP10	HP:0002206	Pulmonary fibrosis	-	OMIM:224230
55505	NOP10	HP:0002206	Pulmonary fibrosis	3/5	OMIM:620400
55505	NOP10	HP:0008404	Nail dystrophy	3/3	OMIM:224230
55505	NOP10	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:1775
55505	NOP10	HP:0010624	Aplastic/hypoplastic toenail	HP:0040282	ORPHA:1775
55505	NOP10	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:1775
55505	NOP10	HP:0001059	Pterygium	-	OMIM:224230
55505	NOP10	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:1775
55505	NOP10	HP:0200037	Skin vesicle	HP:0040283	ORPHA:1775
55505	NOP10	HP:0100670	Coarse metaphyseal trabecularization	HP:0040282	ORPHA:1775
55505	NOP10	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:1775
55505	NOP10	HP:0200042	Skin ulcer	HP:0040282	ORPHA:1775
55505	NOP10	HP:0005528	Bone marrow hypocellularity	1/3	OMIM:224230
55505	NOP10	HP:0005528	Bone marrow hypocellularity	HP:0040282	ORPHA:1775
55505	NOP10	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:1775
55505	NOP10	HP:0000600	Abnormality of the pharynx	HP:0040282	ORPHA:1775
55505	NOP10	HP:0001909	Leukemia	2/7	OMIM:620400
55505	NOP10	HP:0001903	Anemia	HP:0040281	ORPHA:1775
55505	NOP10	HP:0001915	Aplastic anemia	1/3	OMIM:224230
55505	NOP10	HP:0011364	White hair	HP:0040283	ORPHA:1775
55505	NOP10	HP:0000679	Taurodontia	HP:0040282	ORPHA:1775
55505	NOP10	HP:0000691	Microdontia	-	OMIM:224230
55505	NOP10	HP:0000653	Sparse eyelashes	-	OMIM:224230
55505	NOP10	HP:0000670	Carious teeth	-	OMIM:224230
55505	NOP10	HP:0000670	Carious teeth	HP:0040282	ORPHA:1775
55505	NOP10	HP:0000668	Hypodontia	HP:0040282	ORPHA:1775
55505	NOP10	HP:0004322	Short stature	HP:0040282	ORPHA:1775
55505	NOP10	HP:0004387	Enterocolitis	2/2	OMIM:620425
55505	NOP10	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:1775
55505	NOP10	HP:0012733	Macule	HP:0040281	ORPHA:1775
55505	NOP10	HP:0000704	Periodontitis	HP:0040282	ORPHA:1775
55505	NOP10	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1775
55505	NOP10	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1775
55505	NOP10	HP:0000972	Palmoplantar hyperkeratosis	3/3	OMIM:224230
55505	NOP10	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:1775
55505	NOP10	HP:0000953	Hyperpigmentation of the skin	-	OMIM:224230
55505	NOP10	HP:0000939	Osteoporosis	-	OMIM:224230
55505	NOP10	HP:0000939	Osteoporosis	HP:0040283	ORPHA:1775
55505	NOP10	HP:0008070	Sparse hair	HP:0040282	ORPHA:1775
55505	NOP10	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1775
55505	NOP10	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:1775
55505	NOP10	HP:0001596	Alopecia	HP:0040283	ORPHA:1775
55505	NOP10	HP:0031413	Short telomere length	5/5	OMIM:620400
55505	NOP10	HP:0000252	Microcephaly	-	OMIM:224230
55505	NOP10	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:1775
55505	NOP10	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1775
55505	NOP10	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1775
55505	NOP10	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:1775
55505	NOP10	HP:0000499	Abnormal eyelash morphology	HP:0040283	ORPHA:1775
55505	NOP10	HP:0000498	Blepharitis	HP:0040283	ORPHA:1775
55505	NOP10	HP:0005374	Cellular immunodeficiency	HP:0040282	ORPHA:1775
55505	NOP10	HP:0001792	Small nail	-	OMIM:224230
55505	NOP10	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1775
55505	NOP10	HP:0000518	Cataract	2/2	OMIM:620425
55505	NOP10	HP:0000518	Cataract	HP:0040283	ORPHA:1775
55505	NOP10	HP:0012574	Mesangial hypercellularity	1/2	OMIM:620425
55505	NOP10	HP:0000579	Nasolacrimal duct obstruction	-	OMIM:224230
55505	NOP10	HP:0000534	Abnormal eyebrow morphology	HP:0040283	ORPHA:1775
55505	NOP10	HP:0001882	Decreased total leukocyte count	1/5	OMIM:620400
55505	NOP10	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:1775
55505	NOP10	HP:0001873	Thrombocytopenia	-	OMIM:224230
55505	NOP10	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:1775
55505	NOP10	HP:0001876	Pancytopenia	1/3	OMIM:224230
55521	TRIM36	HP:0002414	Spina bifida	1/1	OMIM:206500
55521	TRIM36	HP:0000007	Autosomal recessive inheritance	-	OMIM:206500
55521	TRIM36	HP:0003577	Congenital onset	-	OMIM:206500
55521	TRIM36	HP:0002323	Anencephaly	1/1	OMIM:206500
55526	DHTKD1	HP:0001288	Gait disturbance	-	OMIM:615025
55526	DHTKD1	HP:0001252	Hypotonia	1/2	OMIM:204750
55526	DHTKD1	HP:0001265	Hyporeflexia	8/8	OMIM:615025
55526	DHTKD1	HP:0001263	Global developmental delay	2/2	OMIM:204750
55526	DHTKD1	HP:0410309	Alpha-aminoadipic aciduria	4/4	OMIM:204750
55526	DHTKD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:204750
55526	DHTKD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615025
55526	DHTKD1	HP:0034465	2-hydroxyadipic aciduria	2/2	OMIM:204750
55526	DHTKD1	HP:0003474	Somatic sensory dysfunction	8/8	OMIM:615025
55526	DHTKD1	HP:0007018	Attention deficit hyperactivity disorder	1/2	OMIM:204750
55526	DHTKD1	HP:0003621	Juvenile onset	2/8	OMIM:615025
55526	DHTKD1	HP:0006886	Impaired distal vibration sensation	7/8	OMIM:615025
55526	DHTKD1	HP:0009053	Distal lower limb muscle weakness	8/8	OMIM:615025
55526	DHTKD1	HP:0011342	Mild global developmental delay	2/2	OMIM:204750
55526	DHTKD1	HP:0000750	Delayed speech and language development	1/2	OMIM:204750
55526	DHTKD1	HP:0011462	Young adult onset	6/8	OMIM:615025
55526	DHTKD1	HP:0003202	Skeletal muscle atrophy	8/8	OMIM:615025
55526	DHTKD1	HP:0000252	Microcephaly	1/2	OMIM:204750
55526	DHTKD1	HP:0001761	Pes cavus	8/8	OMIM:615025
55532	SLC30A10	HP:0002453	Abnormal globus pallidus morphology	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0002446	Astrocytosis	HP:0040283	ORPHA:309854
55532	SLC30A10	HP:0025196	Increased total iron binding capacity	-	OMIM:613280
55532	SLC30A10	HP:0025196	Increased total iron binding capacity	HP:0040283	ORPHA:309854
55532	SLC30A10	HP:0010927	Abnormal blood inorganic cation concentration	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0001276	Hypertonia	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0001288	Gait disturbance	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0001260	Dysarthria	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0001260	Dysarthria	-	OMIM:613280
55532	SLC30A10	HP:0001392	Abnormality of the liver	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0001394	Cirrhosis	5/6	OMIM:613280
55532	SLC30A10	HP:0025321	Copper accumulation in liver	HP:0040283	ORPHA:309854
55532	SLC30A10	HP:0001332	Dystonia	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0001332	Dystonia	14/15	OMIM:613280
55532	SLC30A10	HP:0000007	Autosomal recessive inheritance	-	OMIM:613280
55532	SLC30A10	HP:0001337	Tremor	-	OMIM:613280
55532	SLC30A10	HP:0001300	Parkinsonism	-	OMIM:613280
55532	SLC30A10	HP:0001410	Decreased liver function	-	OMIM:613280
55532	SLC30A10	HP:0001409	Portal hypertension	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0001413	Micronodular cirrhosis	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0002067	Bradykinesia	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0002067	Bradykinesia	-	OMIM:613280
55532	SLC30A10	HP:0002063	Rigidity	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0002063	Rigidity	-	OMIM:613280
55532	SLC30A10	HP:0002078	Truncal ataxia	HP:0040283	ORPHA:309854
55532	SLC30A10	HP:0002075	Dysdiadochokinesis	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:613280
55532	SLC30A10	HP:0003376	Steppage gait	-	OMIM:613280
55532	SLC30A10	HP:0002040	Esophageal varix	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0100513	Decreased circulating vitamin E concentration	HP:0040283	ORPHA:309854
55532	SLC30A10	HP:0008151	Prolonged prothrombin time	HP:0040283	ORPHA:309854
55532	SLC30A10	HP:0002154	Hyperglycinemia	HP:0040283	ORPHA:309854
55532	SLC30A10	HP:0002172	Postural instability	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0002172	Postural instability	-	OMIM:613280
55532	SLC30A10	HP:0008282	Unconjugated hyperbilirubinemia	-	OMIM:613280
55532	SLC30A10	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0002240	Hepatomegaly	5/15	OMIM:613280
55532	SLC30A10	HP:0032097	Hypermanganesemia	15/15	OMIM:613280
55532	SLC30A10	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:309854
55532	SLC30A10	HP:0007010	Poor fine motor coordination	-	OMIM:613280
55532	SLC30A10	HP:0002345	Action tremor	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:309854
55532	SLC30A10	HP:0002313	Spastic paraparesis	1/15	OMIM:613280
55532	SLC30A10	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0007141	Sensorimotor neuropathy	HP:0040283	OMIM:613280
55532	SLC30A10	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:309854
55532	SLC30A10	HP:0001901	Polycythemia	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0001901	Polycythemia	-	OMIM:613280
55532	SLC30A10	HP:0004337	Abnormality of amino acid metabolism	HP:0040283	ORPHA:309854
55532	SLC30A10	HP:0012751	Abnormal basal ganglia MRI signal intensity	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0000952	Jaundice	HP:0040283	ORPHA:309854
55532	SLC30A10	HP:0040135	Abnormal transferrin saturation	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0000252	Microcephaly	HP:0040283	ORPHA:309854
55532	SLC30A10	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:613280
55532	SLC30A10	HP:0012343	Decreased circulating ferritin concentration	HP:0040283	ORPHA:309854
55532	SLC30A10	HP:0000338	Hypomimic face	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:309854
55532	SLC30A10	HP:0012447	Abnormal myelination	HP:0040282	ORPHA:309854
55532	SLC30A10	HP:0001744	Splenomegaly	HP:0040282	ORPHA:309854
55553	SOX6	HP:0001166	Arachnodactyly	2/19	OMIM:618971
55553	SOX6	HP:0001249	Intellectual disability	18/19	OMIM:618971
55553	SOX6	HP:0001263	Global developmental delay	1/19	OMIM:618971
55553	SOX6	HP:0000006	Autosomal dominant inheritance	-	OMIM:618971
55553	SOX6	HP:0000160	Narrow mouth	1/19	OMIM:618971
55553	SOX6	HP:0000176	Submucous cleft hard palate	1/19	OMIM:618971
55553	SOX6	HP:0500093	Food allergy	1/19	OMIM:618971
55553	SOX6	HP:0010526	Dysgraphia	1/19	OMIM:618971
55553	SOX6	HP:0003593	Infantile onset	-	OMIM:618971
55553	SOX6	HP:0009729	Cardiac rhabdomyoma	1/19	OMIM:618971
55553	SOX6	HP:0007018	Attention deficit hyperactivity disorder	10/19	OMIM:618971
55553	SOX6	HP:0001007	Hirsutism	1/19	OMIM:618971
55553	SOX6	HP:0004209	Clinodactyly of the 5th finger	1/19	OMIM:618971
55553	SOX6	HP:0012745	Short palpebral fissure	1/19	OMIM:618971
55553	SOX6	HP:0000729	Autistic behavior	4/19	OMIM:618971
55553	SOX6	HP:0030799	Scaphocephaly	2/19	OMIM:618971
55553	SOX6	HP:0003186	Inverted nipples	1/19	OMIM:618971
55553	SOX6	HP:0000826	Precocious puberty	1/19	OMIM:618971
55553	SOX6	HP:0030820	Hooded eyelid	1/19	OMIM:618971
55553	SOX6	HP:0000263	Oxycephaly	1/19	OMIM:618971
55553	SOX6	HP:0000276	Long face	1/19	OMIM:618971
55553	SOX6	HP:0000269	Prominent occiput	1/19	OMIM:618971
55553	SOX6	HP:0000218	High palate	2/19	OMIM:618971
55553	SOX6	HP:0001540	Diastasis recti	1/19	OMIM:618971
55553	SOX6	HP:0001537	Umbilical hernia	1/19	OMIM:618971
55553	SOX6	HP:0000369	Low-set ears	1/19	OMIM:618971
55553	SOX6	HP:0000341	Narrow forehead	1/19	OMIM:618971
55553	SOX6	HP:0000348	High forehead	1/19	OMIM:618971
55553	SOX6	HP:0000347	Micrognathia	1/19	OMIM:618971
55553	SOX6	HP:0000316	Hypertelorism	2/19	OMIM:618971
55553	SOX6	HP:0000325	Triangular face	1/19	OMIM:618971
55553	SOX6	HP:0000407	Sensorineural hearing impairment	1/19	OMIM:618971
55553	SOX6	HP:0000400	Macrotia	1/19	OMIM:618971
55553	SOX6	HP:0000448	Prominent nose	1/19	OMIM:618971
55553	SOX6	HP:0001751	Abnormal vestibular function	1/19	OMIM:618971
55553	SOX6	HP:0000431	Wide nasal bridge	1/19	OMIM:618971
55553	SOX6	HP:0030431	Osteochondroma	3/19	OMIM:618971
55553	SOX6	HP:0000579	Nasolacrimal duct obstruction	1/19	OMIM:618971
55553	SOX6	HP:0000574	Thick eyebrow	1/19	OMIM:618971
55572	FOXRED1	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
55572	FOXRED1	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0002465	Poor speech	-	OMIM:618241
55572	FOXRED1	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0001272	Cerebellar atrophy	1/1	OMIM:618241
55572	FOXRED1	HP:0001288	Gait disturbance	-	OMIM:618241
55572	FOXRED1	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0001250	Seizure	-	OMIM:618241
55572	FOXRED1	HP:0001252	Hypotonia	1/1	OMIM:618241
55572	FOXRED1	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0001263	Global developmental delay	1/1	OMIM:618241
55572	FOXRED1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0002540	Inability to walk	1/1	OMIM:618241
55572	FOXRED1	HP:0002505	Loss of ambulation	1/1	OMIM:618241
55572	FOXRED1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0001344	Absent speech	1/1	OMIM:618241
55572	FOXRED1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618241
55572	FOXRED1	HP:0001336	Myoclonus	-	OMIM:618241
55572	FOXRED1	HP:0002650	Scoliosis	-	OMIM:618241
55572	FOXRED1	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0002093	Respiratory insufficiency	-	OMIM:618241
55572	FOXRED1	HP:0002063	Rigidity	-	OMIM:618241
55572	FOXRED1	HP:0002119	Ventriculomegaly	-	OMIM:618241
55572	FOXRED1	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
55572	FOXRED1	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:618241
55572	FOXRED1	HP:0003577	Congenital onset	1/1	OMIM:618241
55572	FOXRED1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0100704	Cerebral visual impairment	1/1	OMIM:618241
55572	FOXRED1	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
55572	FOXRED1	HP:0011968	Feeding difficulties	-	OMIM:618241
55572	FOXRED1	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0003623	Neonatal onset	1/1	OMIM:618241
55572	FOXRED1	HP:0002305	Athetosis	1/1	OMIM:618241
55572	FOXRED1	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0000648	Optic atrophy	HP:0040284	OMIM:618241
55572	FOXRED1	HP:0000618	Blindness	HP:0040283	ORPHA:2609
55572	FOXRED1	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0001943	Hypoglycemia	-	OMIM:618241
55572	FOXRED1	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0000737	Irritability	1/1	OMIM:618241
55572	FOXRED1	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0003128	Lactic acidosis	1/1	OMIM:618241
55572	FOXRED1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
55572	FOXRED1	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
55572	FOXRED1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:618241
55572	FOXRED1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0012448	Delayed myelination	-	OMIM:618241
55572	FOXRED1	HP:0005484	Secondary microcephaly	1/1	OMIM:618241
55572	FOXRED1	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
55572	FOXRED1	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
55593	OTUD5	HP:0001162	Postaxial hand polydactyly	3/10	OMIM:301056
55593	OTUD5	HP:0001274	Agenesis of corpus callosum	2/10	OMIM:301056
55593	OTUD5	HP:0001250	Seizure	2/10	OMIM:301056
55593	OTUD5	HP:0001252	Hypotonia	7/9	OMIM:301056
55593	OTUD5	HP:0001249	Intellectual disability	7/7	OMIM:301056
55593	OTUD5	HP:0001263	Global developmental delay	10/10	OMIM:301056
55593	OTUD5	HP:0000081	Duplicated collecting system	1/10	OMIM:301056
55593	OTUD5	HP:0000076	Vesicoureteral reflux	1/10	OMIM:301056
55593	OTUD5	HP:0000054	Micropenis	5/10	OMIM:301056
55593	OTUD5	HP:0000047	Hypospadias	5/10	OMIM:301056
55593	OTUD5	HP:0001363	Craniosynostosis	3/10	OMIM:301056
55593	OTUD5	HP:0000028	Cryptorchidism	5/20	OMIM:301056
55593	OTUD5	HP:0008872	Feeding difficulties in infancy	4/10	OMIM:301056
55593	OTUD5	HP:0006191	Deep palmar crease	1/10	OMIM:301056
55593	OTUD5	HP:0002673	Coxa valga	1/10	OMIM:301056
55593	OTUD5	HP:0001321	Cerebellar hypoplasia	1/10	OMIM:301056
55593	OTUD5	HP:0000126	Hydronephrosis	1/10	OMIM:301056
55593	OTUD5	HP:0001419	X-linked recessive inheritance	-	OMIM:301056
55593	OTUD5	HP:0005989	Redundant neck skin	1/10	OMIM:301056
55593	OTUD5	HP:0003316	Butterfly vertebrae	3/10	OMIM:301056
55593	OTUD5	HP:0011800	Midface retrusion	6/10	OMIM:301056
55593	OTUD5	HP:0002079	Hypoplasia of the corpus callosum	3/10	OMIM:301056
55593	OTUD5	HP:0100507	Reduced blood folate concentration	1/10	OMIM:301056
55593	OTUD5	HP:0002119	Ventriculomegaly	8/10	OMIM:301056
55593	OTUD5	HP:0010557	Overlapping fingers	1/10	OMIM:301056
55593	OTUD5	HP:0003577	Congenital onset	10/10	OMIM:301056
55593	OTUD5	HP:0002240	Hepatomegaly	1/10	OMIM:301056
55593	OTUD5	HP:0100702	Arachnoid cyst	1/10	OMIM:301056
55593	OTUD5	HP:0009748	Large earlobe	1/7	OMIM:301056
55593	OTUD5	HP:0002283	Global brain atrophy	1/10	OMIM:301056
55593	OTUD5	HP:0025024	Megarectum	1/10	OMIM:301056
55593	OTUD5	HP:0001007	Hirsutism	8/20	OMIM:301056
55593	OTUD5	HP:0004935	Pulmonary artery atresia	2/10	OMIM:301056
55593	OTUD5	HP:0000639	Nystagmus	2/10	OMIM:301056
55593	OTUD5	HP:0000609	Optic nerve hypoplasia	1/10	OMIM:301056
55593	OTUD5	HP:0011330	Metopic synostosis	1/10	OMIM:301056
55593	OTUD5	HP:0000668	Hypodontia	3/10	OMIM:301056
55593	OTUD5	HP:0004322	Short stature	7/10	OMIM:301056
55593	OTUD5	HP:0000729	Autistic behavior	2/10	OMIM:301056
55593	OTUD5	HP:0003236	Elevated circulating creatine kinase concentration	2/10	OMIM:301056
55593	OTUD5	HP:0000280	Coarse facial features	1/10	OMIM:301056
55593	OTUD5	HP:0000278	Retrognathia	4/9	OMIM:301056
55593	OTUD5	HP:0000256	Macrocephaly	1/10	OMIM:301056
55593	OTUD5	HP:0002804	Arthrogryposis multiplex congenita	1/10	OMIM:301056
55593	OTUD5	HP:0000252	Microcephaly	5/10	OMIM:301056
55593	OTUD5	HP:0001561	Polyhydramnios	5/9	OMIM:301056
55593	OTUD5	HP:0001518	Small for gestational age	7/9	OMIM:301056
55593	OTUD5	HP:0001511	Intrauterine growth retardation	8/10	OMIM:301056
55593	OTUD5	HP:0002910	Elevated circulating hepatic transaminase concentration	2/10	OMIM:301056
55593	OTUD5	HP:0005162	Abnormal left ventricular function	2/10	OMIM:301056
55593	OTUD5	HP:0000365	Hearing impairment	2/10	OMIM:301056
55593	OTUD5	HP:0000358	Posteriorly rotated ears	3/7	OMIM:301056
55593	OTUD5	HP:0000369	Low-set ears	4/7	OMIM:301056
55593	OTUD5	HP:0000316	Hypertelorism	5/10	OMIM:301056
55593	OTUD5	HP:0001642	Pulmonic stenosis	2/10	OMIM:301056
55593	OTUD5	HP:0001629	Ventricular septal defect	6/10	OMIM:301056
55593	OTUD5	HP:0000307	Pointed chin	1/9	OMIM:301056
55593	OTUD5	HP:0007957	Corneal opacity	1/10	OMIM:301056
55593	OTUD5	HP:0001719	Double outlet right ventricle	2/10	OMIM:301056
55593	OTUD5	HP:0000483	Astigmatism	1/10	OMIM:301056
55593	OTUD5	HP:0000486	Strabismus	1/10	OMIM:301056
55593	OTUD5	HP:0000494	Downslanted palpebral fissures	1/10	OMIM:301056
55593	OTUD5	HP:0001792	Small nail	2/9	OMIM:301056
55593	OTUD5	HP:0001772	Talipes equinovalgus	1/10	OMIM:301056
55593	OTUD5	HP:0001762	Talipes equinovarus	1/10	OMIM:301056
55593	OTUD5	HP:0001838	Rocker bottom foot	1/10	OMIM:301056
55593	OTUD5	HP:0000506	Telecanthus	2/10	OMIM:301056
55593	OTUD5	HP:0001830	Postaxial foot polydactyly	4/10	OMIM:301056
55593	OTUD5	HP:0000540	Hypermetropia	1/10	OMIM:301056
55593	OTUD5	HP:0001882	Decreased total leukocyte count	2/10	OMIM:301056
55593	OTUD5	HP:0001873	Thrombocytopenia	2/10	OMIM:301056
55596	ZCCHC8	HP:0000006	Autosomal dominant inheritance	-	OMIM:618674
55596	ZCCHC8	HP:0002206	Pulmonary fibrosis	-	OMIM:618674
55596	ZCCHC8	HP:0005528	Bone marrow hypocellularity	-	OMIM:618674
55596	ZCCHC8	HP:0031413	Short telomere length	-	OMIM:618674
55599	RNPC3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55599	RNPC3	HP:0001293	Cranial nerve compression	-	OMIM:131300
55599	RNPC3	HP:0001252	Hypotonia	2/7	OMIM:615777
55599	RNPC3	HP:0001249	Intellectual disability	5/7	OMIM:615777
55599	RNPC3	HP:0001263	Global developmental delay	-	OMIM:615777
55599	RNPC3	HP:0002515	Waddling gait	54/102	OMIM:131300
55599	RNPC3	HP:0001382	Joint hypermobility	-	OMIM:615777
55599	RNPC3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55599	RNPC3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55599	RNPC3	HP:0008897	Postnatal growth retardation	3/3	OMIM:618160
55599	RNPC3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55599	RNPC3	HP:0001324	Muscle weakness	40/96	OMIM:131300
55599	RNPC3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55599	RNPC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:618160
55599	RNPC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55599	RNPC3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55599	RNPC3	HP:0002650	Scoliosis	12/14	OMIM:131300
55599	RNPC3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55599	RNPC3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55599	RNPC3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55599	RNPC3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55599	RNPC3	HP:0000175	Cleft palate	2/7	OMIM:615777
55599	RNPC3	HP:0002750	Delayed skeletal maturation	3/3	OMIM:618160
55599	RNPC3	HP:0002007	Frontal bossing	3/3	OMIM:618160
55599	RNPC3	HP:0003388	Easy fatigability	36/76	OMIM:131300
55599	RNPC3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55599	RNPC3	HP:0003593	Infantile onset	3/3	OMIM:618160
55599	RNPC3	HP:0010627	Anterior pituitary hypoplasia	3/3	OMIM:618160
55599	RNPC3	HP:0003510	Severe short stature	7/7	OMIM:615777
55599	RNPC3	HP:0002315	Headache	-	OMIM:131300
55599	RNPC3	HP:0004976	Knee dislocation	6/7	OMIM:615777
55599	RNPC3	HP:0009803	Short phalanx of finger	-	OMIM:615777
55599	RNPC3	HP:0009763	Limb pain	63/92	OMIM:131300
55599	RNPC3	HP:0003621	Juvenile onset	-	OMIM:131300
55599	RNPC3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55599	RNPC3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55599	RNPC3	HP:6001056	Out-toeing	-	OMIM:131300
55599	RNPC3	HP:0000651	Diplopia	-	OMIM:131300
55599	RNPC3	HP:0001956	Truncal obesity	-	OMIM:618160
55599	RNPC3	HP:0001956	Truncal obesity	2/7	OMIM:615777
55599	RNPC3	HP:0001903	Anemia	HP:0040283	OMIM:131300
55599	RNPC3	HP:0010049	Short metacarpal	-	OMIM:615777
55599	RNPC3	HP:0000678	Dental crowding	-	OMIM:615777
55599	RNPC3	HP:0000670	Carious teeth	-	OMIM:131300
55599	RNPC3	HP:0011304	Broad thumb	2/7	OMIM:615777
55599	RNPC3	HP:0000668	Hypodontia	-	OMIM:615777
55599	RNPC3	HP:0000664	Synophrys	-	OMIM:615777
55599	RNPC3	HP:0004322	Short stature	3/3	OMIM:618160
55599	RNPC3	HP:0004396	Poor appetite	-	OMIM:131300
55599	RNPC3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55599	RNPC3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55599	RNPC3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55599	RNPC3	HP:0003026	Short long bone	7/7	OMIM:615777
55599	RNPC3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55599	RNPC3	HP:0012743	Abdominal obesity	-	OMIM:618160
55599	RNPC3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55599	RNPC3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55599	RNPC3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55599	RNPC3	HP:0000750	Delayed speech and language development	-	OMIM:615777
55599	RNPC3	HP:0011461	Fetal onset	7/7	OMIM:615777
55599	RNPC3	HP:0000774	Narrow chest	2/7	OMIM:615777
55599	RNPC3	HP:0000926	Platyspondyly	1/7	OMIM:615777
55599	RNPC3	HP:0003180	Flat acetabular roof	-	OMIM:615777
55599	RNPC3	HP:0004482	Relative macrocephaly	-	OMIM:615777
55599	RNPC3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55599	RNPC3	HP:0000824	Decreased response to growth hormone stimulation test	3/3	OMIM:618160
55599	RNPC3	HP:0000823	Delayed puberty	-	OMIM:131300
55599	RNPC3	HP:0000894	Short clavicles	-	OMIM:615777
55599	RNPC3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55599	RNPC3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55599	RNPC3	HP:0000286	Epicanthus	1/7	OMIM:615777
55599	RNPC3	HP:0000280	Coarse facial features	2/7	OMIM:615777
55599	RNPC3	HP:0002827	Hip dislocation	3/7	OMIM:615777
55599	RNPC3	HP:0000252	Microcephaly	3/3	OMIM:618160
55599	RNPC3	HP:0000252	Microcephaly	-	OMIM:615777
55599	RNPC3	HP:0002857	Genu valgum	-	OMIM:131300
55599	RNPC3	HP:0001533	Slender build	-	OMIM:131300
55599	RNPC3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55599	RNPC3	HP:0007807	Optic nerve compression	-	OMIM:131300
55599	RNPC3	HP:0012368	Flat face	7/7	OMIM:615777
55599	RNPC3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55599	RNPC3	HP:0000365	Hearing impairment	10/67	OMIM:131300
55599	RNPC3	HP:0000343	Long philtrum	1/7	OMIM:615777
55599	RNPC3	HP:0011001	Increased bone mineral density	-	OMIM:131300
55599	RNPC3	HP:0000311	Round face	2/7	OMIM:615777
55599	RNPC3	HP:0002970	Genu varum	-	OMIM:615777
55599	RNPC3	HP:0000303	Mandibular prognathia	-	OMIM:131300
55599	RNPC3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55599	RNPC3	HP:0000470	Short neck	1/7	OMIM:615777
55599	RNPC3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55599	RNPC3	HP:0001763	Pes planus	1/7	OMIM:615777
55599	RNPC3	HP:0001840	Metatarsus adductus	-	OMIM:615777
55599	RNPC3	HP:0000520	Proptosis	2/4	OMIM:131300
55599	RNPC3	HP:0000520	Proptosis	7/7	OMIM:615777
55599	RNPC3	HP:0000592	Blue sclerae	2/7	OMIM:615777
55599	RNPC3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55599	RNPC3	HP:0012514	Lower limb pain	4/4	OMIM:131300
55603	TENT5A	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55603	TENT5A	HP:0001293	Cranial nerve compression	-	OMIM:131300
55603	TENT5A	HP:0001270	Motor delay	-	OMIM:617952
55603	TENT5A	HP:0001256	Intellectual disability, mild	-	OMIM:259770
55603	TENT5A	HP:0001252	Hypotonia	-	OMIM:259770
55603	TENT5A	HP:0001252	Hypotonia	2/7	OMIM:615777
55603	TENT5A	HP:0001249	Intellectual disability	5/7	OMIM:615777
55603	TENT5A	HP:0001263	Global developmental delay	1/1	OMIM:612394
55603	TENT5A	HP:0001263	Global developmental delay	-	OMIM:615777
55603	TENT5A	HP:0002515	Waddling gait	54/102	OMIM:131300
55603	TENT5A	HP:0001382	Joint hypermobility	-	OMIM:259770
55603	TENT5A	HP:0001382	Joint hypermobility	20/20	OMIM:617952
55603	TENT5A	HP:0001382	Joint hypermobility	-	OMIM:615777
55603	TENT5A	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
55603	TENT5A	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55603	TENT5A	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55603	TENT5A	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
55603	TENT5A	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
55603	TENT5A	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
55603	TENT5A	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55603	TENT5A	HP:0001324	Muscle weakness	40/96	OMIM:131300
55603	TENT5A	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55603	TENT5A	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
55603	TENT5A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55603	TENT5A	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
55603	TENT5A	HP:0000007	Autosomal recessive inheritance	-	OMIM:617952
55603	TENT5A	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55603	TENT5A	HP:0002650	Scoliosis	1/5	OMIM:259770
55603	TENT5A	HP:0002650	Scoliosis	1/1	OMIM:612394
55603	TENT5A	HP:0002650	Scoliosis	12/14	OMIM:131300
55603	TENT5A	HP:0002645	Wormian bones	3/4	OMIM:617952
55603	TENT5A	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55603	TENT5A	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55603	TENT5A	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55603	TENT5A	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55603	TENT5A	HP:0000164	Abnormality of the dentition	HP:0040284	OMIM:617952
55603	TENT5A	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
55603	TENT5A	HP:0000175	Cleft palate	2/7	OMIM:615777
55603	TENT5A	HP:0002757	Recurrent fractures	4/5	OMIM:259770
55603	TENT5A	HP:0002757	Recurrent fractures	4/4	OMIM:617952
55603	TENT5A	HP:0002756	Pathologic fracture	-	OMIM:259770
55603	TENT5A	HP:0002756	Pathologic fracture	1/1	OMIM:612394
55603	TENT5A	HP:0002753	Thin bony cortex	-	OMIM:617952
55603	TENT5A	HP:0002751	Kyphoscoliosis	-	OMIM:259770
55603	TENT5A	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
55603	TENT5A	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
55603	TENT5A	HP:0003388	Easy fatigability	36/76	OMIM:131300
55603	TENT5A	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55603	TENT5A	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
55603	TENT5A	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
55603	TENT5A	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
55603	TENT5A	HP:0002164	Nail dysplasia	1/1	OMIM:612394
55603	TENT5A	HP:0010557	Overlapping fingers	1/2	OMIM:612394
55603	TENT5A	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
55603	TENT5A	HP:0003593	Infantile onset	1/5	OMIM:259770
55603	TENT5A	HP:0003577	Congenital onset	4/5	OMIM:259770
55603	TENT5A	HP:0002208	Coarse hair	1/1	OMIM:612394
55603	TENT5A	HP:0003510	Severe short stature	7/7	OMIM:615777
55603	TENT5A	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
55603	TENT5A	HP:0025019	Arterial rupture	1/1	OMIM:612394
55603	TENT5A	HP:0002315	Headache	-	OMIM:131300
55603	TENT5A	HP:0004976	Knee dislocation	6/7	OMIM:615777
55603	TENT5A	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
55603	TENT5A	HP:0009803	Short phalanx of finger	-	OMIM:615777
55603	TENT5A	HP:0001089	Iris atrophy	-	OMIM:259770
55603	TENT5A	HP:0009763	Limb pain	63/92	OMIM:131300
55603	TENT5A	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
55603	TENT5A	HP:0003621	Juvenile onset	-	OMIM:131300
55603	TENT5A	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
55603	TENT5A	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55603	TENT5A	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55603	TENT5A	HP:6001056	Out-toeing	-	OMIM:131300
55603	TENT5A	HP:0000651	Diplopia	-	OMIM:131300
55603	TENT5A	HP:0000618	Blindness	5/5	OMIM:259770
55603	TENT5A	HP:0001956	Truncal obesity	2/7	OMIM:615777
55603	TENT5A	HP:0001903	Anemia	HP:0040283	OMIM:131300
55603	TENT5A	HP:0010049	Short metacarpal	-	OMIM:615777
55603	TENT5A	HP:0000678	Dental crowding	-	OMIM:615777
55603	TENT5A	HP:0000670	Carious teeth	-	OMIM:131300
55603	TENT5A	HP:0011304	Broad thumb	2/7	OMIM:615777
55603	TENT5A	HP:0000668	Hypodontia	-	OMIM:615777
55603	TENT5A	HP:0000667	Phthisis bulbi	-	OMIM:259770
55603	TENT5A	HP:0000664	Synophrys	-	OMIM:615777
55603	TENT5A	HP:0004322	Short stature	-	OMIM:259770
55603	TENT5A	HP:0004396	Poor appetite	-	OMIM:131300
55603	TENT5A	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55603	TENT5A	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55603	TENT5A	HP:0003016	Metaphyseal widening	-	OMIM:259770
55603	TENT5A	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55603	TENT5A	HP:0003026	Short long bone	7/7	OMIM:615777
55603	TENT5A	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55603	TENT5A	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55603	TENT5A	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55603	TENT5A	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55603	TENT5A	HP:0000750	Delayed speech and language development	-	OMIM:617952
55603	TENT5A	HP:0000750	Delayed speech and language development	-	OMIM:615777
55603	TENT5A	HP:0011461	Fetal onset	7/7	OMIM:615777
55603	TENT5A	HP:0011461	Fetal onset	2/2	OMIM:612394
55603	TENT5A	HP:0000774	Narrow chest	2/7	OMIM:615777
55603	TENT5A	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
55603	TENT5A	HP:0003196	Short nose	1/1	OMIM:612394
55603	TENT5A	HP:0000926	Platyspondyly	-	OMIM:259770
55603	TENT5A	HP:0000926	Platyspondyly	1/7	OMIM:615777
55603	TENT5A	HP:0000926	Platyspondyly	1/1	OMIM:612394
55603	TENT5A	HP:0003180	Flat acetabular roof	-	OMIM:615777
55603	TENT5A	HP:0004482	Relative macrocephaly	-	OMIM:615777
55603	TENT5A	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55603	TENT5A	HP:0000883	Thin ribs	-	OMIM:617952
55603	TENT5A	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
55603	TENT5A	HP:0000823	Delayed puberty	-	OMIM:131300
55603	TENT5A	HP:0000894	Short clavicles	-	OMIM:615777
55603	TENT5A	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
55603	TENT5A	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55603	TENT5A	HP:0004586	Biconcave vertebral bodies	-	OMIM:617952
55603	TENT5A	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
55603	TENT5A	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
55603	TENT5A	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55603	TENT5A	HP:0000939	Osteoporosis	4/5	OMIM:259770
55603	TENT5A	HP:0000938	Osteopenia	1/5	OMIM:259770
55603	TENT5A	HP:0000938	Osteopenia	1/1	OMIM:612394
55603	TENT5A	HP:0040160	Generalized osteoporosis	-	OMIM:617952
55603	TENT5A	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
55603	TENT5A	HP:0000286	Epicanthus	1/7	OMIM:615777
55603	TENT5A	HP:0000280	Coarse facial features	2/7	OMIM:615777
55603	TENT5A	HP:0000272	Malar flattening	1/1	OMIM:612394
55603	TENT5A	HP:0007773	Vitreoretinopathy	-	OMIM:259770
55603	TENT5A	HP:0002827	Hip dislocation	3/7	OMIM:615777
55603	TENT5A	HP:0002808	Kyphosis	1/5	OMIM:259770
55603	TENT5A	HP:0000252	Microcephaly	-	OMIM:259770
55603	TENT5A	HP:0000252	Microcephaly	-	OMIM:615777
55603	TENT5A	HP:0001552	Barrel-shaped chest	-	OMIM:259770
55603	TENT5A	HP:0002857	Genu valgum	-	OMIM:131300
55603	TENT5A	HP:0001537	Umbilical hernia	1/4	OMIM:617952
55603	TENT5A	HP:0001533	Slender build	-	OMIM:131300
55603	TENT5A	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55603	TENT5A	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
55603	TENT5A	HP:0007807	Optic nerve compression	-	OMIM:131300
55603	TENT5A	HP:0012368	Flat face	7/7	OMIM:615777
55603	TENT5A	HP:0012368	Flat face	1/1	OMIM:612394
55603	TENT5A	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
55603	TENT5A	HP:0007875	Congenital blindness	4/5	OMIM:259770
55603	TENT5A	HP:0007862	Retinal calcification	1/5	OMIM:259770
55603	TENT5A	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55603	TENT5A	HP:0006487	Bowing of the long bones	-	OMIM:617952
55603	TENT5A	HP:0000365	Hearing impairment	10/67	OMIM:131300
55603	TENT5A	HP:0000369	Low-set ears	2/2	OMIM:612394
55603	TENT5A	HP:0000343	Long philtrum	1/7	OMIM:615777
55603	TENT5A	HP:0011001	Increased bone mineral density	-	OMIM:131300
55603	TENT5A	HP:0000337	Broad forehead	-	OMIM:617952
55603	TENT5A	HP:0000347	Micrognathia	-	OMIM:617952
55603	TENT5A	HP:0002982	Tibial bowing	1/5	OMIM:259770
55603	TENT5A	HP:0002980	Femoral bowing	4/4	OMIM:617952
55603	TENT5A	HP:0000311	Round face	2/7	OMIM:615777
55603	TENT5A	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
55603	TENT5A	HP:0001629	Ventricular septal defect	-	OMIM:259770
55603	TENT5A	HP:0002953	Vertebral compression fracture	-	OMIM:617952
55603	TENT5A	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
55603	TENT5A	HP:0002970	Genu varum	-	OMIM:615777
55603	TENT5A	HP:0000307	Pointed chin	1/2	OMIM:612394
55603	TENT5A	HP:0000303	Mandibular prognathia	-	OMIM:131300
55603	TENT5A	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
55603	TENT5A	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55603	TENT5A	HP:0000463	Anteverted nares	1/1	OMIM:612394
55603	TENT5A	HP:0000470	Short neck	1/7	OMIM:615777
55603	TENT5A	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55603	TENT5A	HP:0001763	Pes planus	1/7	OMIM:615777
55603	TENT5A	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
55603	TENT5A	HP:0000431	Wide nasal bridge	-	OMIM:617952
55603	TENT5A	HP:0000518	Cataract	1/5	OMIM:259770
55603	TENT5A	HP:0000518	Cataract	1/1	OMIM:612394
55603	TENT5A	HP:0001840	Metatarsus adductus	-	OMIM:615777
55603	TENT5A	HP:0000527	Long eyelashes	-	OMIM:617952
55603	TENT5A	HP:0000520	Proptosis	2/4	OMIM:131300
55603	TENT5A	HP:0000520	Proptosis	7/7	OMIM:615777
55603	TENT5A	HP:0000592	Blue sclerae	4/4	OMIM:617952
55603	TENT5A	HP:0000592	Blue sclerae	2/7	OMIM:615777
55603	TENT5A	HP:0000586	Shallow orbits	1/1	OMIM:612394
55603	TENT5A	HP:0000568	Microphthalmia	1/5	OMIM:259770
55603	TENT5A	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55603	TENT5A	HP:0012514	Lower limb pain	4/4	OMIM:131300
55603	TENT5A	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
55603	TENT5A	HP:0000545	Myopia	1/1	OMIM:612394
55605	KIF21A	HP:0025186	Marcus Gunn jaw winking synkinesis	HP:0040283	ORPHA:45358
55605	KIF21A	HP:0009916	Anisocoria	HP:0040283	ORPHA:45358
55605	KIF21A	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:994
55605	KIF21A	HP:0001252	Hypotonia	HP:0040283	ORPHA:45358
55605	KIF21A	HP:0001249	Intellectual disability	HP:0040283	ORPHA:45358
55605	KIF21A	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:994
55605	KIF21A	HP:6000709	Absent Bell phenomenon	HP:0040281	ORPHA:45358
55605	KIF21A	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:45358
55605	KIF21A	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:45358
55605	KIF21A	HP:0025309	Abnormal pupil shape	HP:0040282	ORPHA:45358
55605	KIF21A	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:994
55605	KIF21A	HP:0000006	Autosomal dominant inheritance	-	OMIM:135700
55605	KIF21A	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:994
55605	KIF21A	HP:0002650	Scoliosis	HP:0040282	ORPHA:994
55605	KIF21A	HP:0032466	Aplasia of the olfactory bulb	HP:0040283	ORPHA:45358
55605	KIF21A	HP:0001491	Congenital fibrosis of extraocular muscles	HP:0040281	ORPHA:45358
55605	KIF21A	HP:0001491	Congenital fibrosis of extraocular muscles	-	OMIM:135700
55605	KIF21A	HP:0001488	Bilateral ptosis	-	OMIM:135700
55605	KIF21A	HP:0000175	Cleft palate	HP:0040282	ORPHA:994
55605	KIF21A	HP:0001477	Compensatory chin elevation	HP:0040282	ORPHA:45358
55605	KIF21A	HP:0001477	Compensatory chin elevation	-	OMIM:135700
55605	KIF21A	HP:0002013	Vomiting	HP:0040283	ORPHA:45358
55605	KIF21A	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:994
55605	KIF21A	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:994
55605	KIF21A	HP:0010489	Absent palmar crease	HP:0040281	ORPHA:994
55605	KIF21A	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:45358
55605	KIF21A	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:45358
55605	KIF21A	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:994
55605	KIF21A	HP:0001059	Pterygium	HP:0040283	ORPHA:994
55605	KIF21A	HP:0002375	Hypokinesia	HP:0040281	ORPHA:994
55605	KIF21A	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:45358
55605	KIF21A	HP:0002304	Akinesia	HP:0040281	ORPHA:994
55605	KIF21A	HP:0030534	Abnormal best corrected visual acuity test	HP:0040281	ORPHA:45358
55605	KIF21A	HP:0000646	Amblyopia	HP:0040282	ORPHA:45358
55605	KIF21A	HP:0000616	Miosis	HP:0040282	ORPHA:45358
55605	KIF21A	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:45358
55605	KIF21A	HP:0011347	Abnormality of ocular abduction	HP:0040281	ORPHA:45358
55605	KIF21A	HP:0001989	Fetal akinesia sequence	HP:0040281	ORPHA:994
55605	KIF21A	HP:0030588	Abnormal visual field test	HP:0040282	ORPHA:45358
55605	KIF21A	HP:0009380	Finger aplasia	HP:0040283	ORPHA:45358
55605	KIF21A	HP:0012242	Superior rectus atrophy	-	OMIM:135700
55605	KIF21A	HP:0012241	Levator palpebrae superioris atrophy	HP:0040281	ORPHA:45358
55605	KIF21A	HP:0012241	Levator palpebrae superioris atrophy	-	OMIM:135700
55605	KIF21A	HP:0002828	Multiple joint contractures	HP:0040281	ORPHA:994
55605	KIF21A	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:994
55605	KIF21A	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:994
55605	KIF21A	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:994
55605	KIF21A	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	HP:0040282	ORPHA:45358
55605	KIF21A	HP:0005245	Intestinal hypoplasia	HP:0040283	ORPHA:994
55605	KIF21A	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:994
55605	KIF21A	HP:0000347	Micrognathia	HP:0040281	ORPHA:994
55605	KIF21A	HP:0000316	Hypertelorism	HP:0040282	ORPHA:994
55605	KIF21A	HP:0007936	Restrictive external ophthalmoplegia	-	OMIM:135700
55605	KIF21A	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:994
55605	KIF21A	HP:0000486	Strabismus	HP:0040281	ORPHA:45358
55605	KIF21A	HP:0030211	Slow pupillary light response	HP:0040281	ORPHA:45358
55605	KIF21A	HP:0000476	Cystic hygroma	HP:0040282	ORPHA:994
55605	KIF21A	HP:0000473	Torticollis	HP:0040283	ORPHA:45358
55605	KIF21A	HP:0025721	Limited vertical extraocular movement	HP:0040281	ORPHA:45358
55605	KIF21A	HP:0031721	Sensory exotropia	-	OMIM:135700
55605	KIF21A	HP:0031723	Secondary esotropia	-	OMIM:135700
55605	KIF21A	HP:0000518	Cataract	HP:0040283	ORPHA:45358
55605	KIF21A	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:45358
55605	KIF21A	HP:0000508	Ptosis	HP:0040281	ORPHA:45358
55605	KIF21A	HP:0000577	Exotropia	HP:0040281	ORPHA:45358
55605	KIF21A	HP:0000577	Exotropia	-	OMIM:135700
55605	KIF21A	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:45358
55605	KIF21A	HP:0000565	Esotropia	HP:0040283	ORPHA:45358
55605	KIF21A	HP:0000565	Esotropia	-	OMIM:135700
55605	KIF21A	HP:0000539	Abnormality of refraction	HP:0040282	ORPHA:45358
55605	KIF21A	HP:0000542	Impaired ocular adduction	HP:0040281	ORPHA:45358
55610	VPS50	HP:0002421	Poor head control	2/2	OMIM:619685
55610	VPS50	HP:0001272	Cerebellar atrophy	1/2	OMIM:619685
55610	VPS50	HP:0008689	Bilateral cryptorchidism	1/2	OMIM:619685
55610	VPS50	HP:0003819	Death in childhood	1/2	OMIM:619685
55610	VPS50	HP:0000007	Autosomal recessive inheritance	-	OMIM:619685
55610	VPS50	HP:0001406	Intrahepatic cholestasis	1/2	OMIM:619685
55610	VPS50	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:619685
55610	VPS50	HP:0040288	Nasogastric tube feeding	1/2	OMIM:619685
55610	VPS50	HP:0002179	Opisthotonus	2/2	OMIM:619685
55610	VPS50	HP:0011968	Feeding difficulties	2/2	OMIM:619685
55610	VPS50	HP:0020045	Esodeviation	1/2	OMIM:619685
55610	VPS50	HP:0010818	Generalized tonic seizure	1/2	OMIM:619685
55610	VPS50	HP:0003623	Neonatal onset	2/2	OMIM:619685
55610	VPS50	HP:0011344	Severe global developmental delay	2/2	OMIM:619685
55610	VPS50	HP:0031956	Elevated circulating aspartate aminotransferase concentration	2/2	OMIM:619685
55610	VPS50	HP:0031964	Elevated circulating alanine aminotransferase concentration	2/2	OMIM:619685
55610	VPS50	HP:0000737	Irritability	2/2	OMIM:619685
55610	VPS50	HP:0012202	Increased serum bile acid concentration	1/2	OMIM:619685
55610	VPS50	HP:0002904	Hyperbilirubinemia	2/2	OMIM:619685
55610	VPS50	HP:0011003	High myopia	1/2	OMIM:619685
55610	VPS50	HP:0005484	Secondary microcephaly	1/2	OMIM:619685
55610	VPS50	HP:0012595	Mild proteinuria	1/2	OMIM:619685
55612	FERMT1	HP:0100825	Cheilitis	HP:0040281	ORPHA:2908
55612	FERMT1	HP:0002583	Colitis	HP:0040282	ORPHA:2908
55612	FERMT1	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:2908
55612	FERMT1	HP:0031045	Acral blistering	11/11	OMIM:173650
55612	FERMT1	HP:0008661	Urethral stenosis	4/22	OMIM:173650
55612	FERMT1	HP:6000714	Reduced epidermal kindlin-1 expression	3/3	OMIM:173650
55612	FERMT1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0007488	Diffuse skin atrophy	-	OMIM:173650
55612	FERMT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:173650
55612	FERMT1	HP:0006323	Premature loss of primary teeth	HP:0040282	ORPHA:2908
55612	FERMT1	HP:0002745	Oral leukoplakia	8/11	OMIM:173650
55612	FERMT1	HP:0002025	Anal stenosis	1/11	OMIM:173650
55612	FERMT1	HP:0002037	Inflammation of the large intestine	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0002015	Dysphagia	HP:0040282	ORPHA:2908
55612	FERMT1	HP:0002015	Dysphagia	6/11	OMIM:173650
55612	FERMT1	HP:0002043	Esophageal stricture	HP:0040282	ORPHA:2908
55612	FERMT1	HP:0100517	Neoplasm of the urethra	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0010450	Esophageal stenosis	1/11	OMIM:173650
55612	FERMT1	HP:0100585	Telangiectasia of the skin	9/11	OMIM:173650
55612	FERMT1	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:2908
55612	FERMT1	HP:0430007	Symblepharon	-	OMIM:173650
55612	FERMT1	HP:0008388	Abnormal toenail morphology	HP:0040282	ORPHA:2908
55612	FERMT1	HP:0001056	Milia	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0001030	Fragile skin	-	OMIM:173650
55612	FERMT1	HP:0001029	Poikiloderma	HP:0040281	ORPHA:2908
55612	FERMT1	HP:0001029	Poikiloderma	11/11	OMIM:173650
55612	FERMT1	HP:0001000	Abnormality of skin pigmentation	HP:0040282	ORPHA:2908
55612	FERMT1	HP:0200020	Corneal erosion	-	OMIM:173650
55612	FERMT1	HP:0100633	Esophagitis	HP:0040282	ORPHA:2908
55612	FERMT1	HP:0010783	Erythema	HP:0040281	ORPHA:2908
55612	FERMT1	HP:0009775	Amniotic constriction ring	-	OMIM:173650
55612	FERMT1	HP:0005590	Spotty hypopigmentation	-	OMIM:173650
55612	FERMT1	HP:0005585	Spotty hyperpigmentation	-	OMIM:173650
55612	FERMT1	HP:0001903	Anemia	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0010047	Short 5th metacarpal	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0010044	Short 4th metacarpal	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:2908
55612	FERMT1	HP:0000656	Ectropion	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0000670	Carious teeth	5/11	OMIM:173650
55612	FERMT1	HP:0000670	Carious teeth	HP:0040282	ORPHA:2908
55612	FERMT1	HP:0004334	Dermal atrophy	11/11	OMIM:173650
55612	FERMT1	HP:0004378	Abnormality of the anus	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0000772	Abnormal rib morphology	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0000704	Periodontitis	HP:0040282	ORPHA:2908
55612	FERMT1	HP:0000704	Periodontitis	-	OMIM:173650
55612	FERMT1	HP:0000929	Abnormal skull morphology	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0000972	Palmoplantar hyperkeratosis	4/11	OMIM:173650
55612	FERMT1	HP:0000992	Cutaneous photosensitivity	8/11	OMIM:173650
55612	FERMT1	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:2908
55612	FERMT1	HP:0000987	Atypical scarring of skin	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:2908
55612	FERMT1	HP:0000962	Hyperkeratosis	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:2908
55612	FERMT1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:2908
55612	FERMT1	HP:0000262	Turricephaly	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0012227	Urethral stricture	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:2908
55612	FERMT1	HP:0000230	Gingivitis	HP:0040282	ORPHA:2908
55612	FERMT1	HP:0000230	Gingivitis	8/11	OMIM:173650
55612	FERMT1	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0001602	Laryngeal stenosis	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0007957	Corneal opacity	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0001741	Phimosis	1/11	OMIM:173650
55612	FERMT1	HP:0001741	Phimosis	HP:0040282	ORPHA:2908
55612	FERMT1	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:2908
55612	FERMT1	HP:0001807	Ridged nail	-	OMIM:173650
55617	TASP1	HP:0001156	Brachydactyly	1/4	OMIM:618950
55617	TASP1	HP:0001290	Generalized hypotonia	4/4	OMIM:618950
55617	TASP1	HP:0100814	Blue nevus	1/4	OMIM:618950
55617	TASP1	HP:0001250	Seizure	2/4	OMIM:618950
55617	TASP1	HP:0001263	Global developmental delay	4/4	OMIM:618950
55617	TASP1	HP:0002553	Highly arched eyebrow	4/4	OMIM:618950
55617	TASP1	HP:0000023	Inguinal hernia	1/4	OMIM:618950
55617	TASP1	HP:0000028	Cryptorchidism	3/3	OMIM:618950
55617	TASP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618950
55617	TASP1	HP:0000179	Thick lower lip vermilion	2/4	OMIM:618950
55617	TASP1	HP:0000154	Wide mouth	2/4	OMIM:618950
55617	TASP1	HP:0000126	Hydronephrosis	1/4	OMIM:618950
55617	TASP1	HP:0002714	Downturned corners of mouth	1/4	OMIM:618950
55617	TASP1	HP:0030939	Palpebral thickening	3/4	OMIM:618950
55617	TASP1	HP:0002057	Prominent glabella	2/4	OMIM:618950
55617	TASP1	HP:0010442	Polydactyly	1/4	OMIM:618950
55617	TASP1	HP:0003577	Congenital onset	-	OMIM:618950
55617	TASP1	HP:0002205	Recurrent respiratory infections	3/4	OMIM:618950
55617	TASP1	HP:0011968	Feeding difficulties	4/4	OMIM:618950
55617	TASP1	HP:0001007	Hirsutism	2/4	OMIM:618950
55617	TASP1	HP:0002307	Drooling	2/4	OMIM:618950
55617	TASP1	HP:0000646	Amblyopia	1/4	OMIM:618950
55617	TASP1	HP:0000629	Periorbital fullness	4/4	OMIM:618950
55617	TASP1	HP:0011335	Frontal hirsutism	3/4	OMIM:618950
55617	TASP1	HP:0000664	Synophrys	4/4	OMIM:618950
55617	TASP1	HP:0040082	Happy demeanor	3/4	OMIM:618950
55617	TASP1	HP:0000954	Single transverse palmar crease	3/4	OMIM:618950
55617	TASP1	HP:0000286	Epicanthus	4/4	OMIM:618950
55617	TASP1	HP:0030084	Clinodactyly	1/4	OMIM:618950
55617	TASP1	HP:0000252	Microcephaly	4/4	OMIM:618950
55617	TASP1	HP:0000219	Thin upper lip vermilion	3/4	OMIM:618950
55617	TASP1	HP:0000218	High palate	1/4	OMIM:618950
55617	TASP1	HP:0001508	Failure to thrive	3/4	OMIM:618950
55617	TASP1	HP:0000384	Preauricular skin tag	2/4	OMIM:618950
55617	TASP1	HP:0000396	Overfolded helix	2/4	OMIM:618950
55617	TASP1	HP:0000365	Hearing impairment	1/4	OMIM:618950
55617	TASP1	HP:0000369	Low-set ears	4/4	OMIM:618950
55617	TASP1	HP:0000343	Long philtrum	3/4	OMIM:618950
55617	TASP1	HP:0000319	Smooth philtrum	3/4	OMIM:618950
55617	TASP1	HP:0000316	Hypertelorism	4/4	OMIM:618950
55617	TASP1	HP:0001655	Patent foramen ovale	1/4	OMIM:618950
55617	TASP1	HP:0001629	Ventricular septal defect	3/4	OMIM:618950
55617	TASP1	HP:0000308	Microretrognathia	2/4	OMIM:618950
55617	TASP1	HP:0001631	Atrial septal defect	1/4	OMIM:618950
55617	TASP1	HP:0000486	Strabismus	1/4	OMIM:618950
55617	TASP1	HP:0000494	Downslanted palpebral fissures	2/4	OMIM:618950
55617	TASP1	HP:0000465	Webbed neck	2/4	OMIM:618950
55617	TASP1	HP:0000411	Protruding ear	4/4	OMIM:618950
55617	TASP1	HP:0000431	Wide nasal bridge	4/4	OMIM:618950
55617	TASP1	HP:0000574	Thick eyebrow	4/4	OMIM:618950
55617	TASP1	HP:0000540	Hypermetropia	1/4	OMIM:618950
55617	TASP1	HP:0000543	Optic disc pallor	1/4	OMIM:618950
55621	TRMT1	HP:0001272	Cerebellar atrophy	2/2	OMIM:618302
55621	TRMT1	HP:0001270	Motor delay	1/4	OMIM:618302
55621	TRMT1	HP:0001250	Seizure	4/4	OMIM:618302
55621	TRMT1	HP:0001252	Hypotonia	1/4	OMIM:618302
55621	TRMT1	HP:0001263	Global developmental delay	3/5	OMIM:618302
55621	TRMT1	HP:0001324	Muscle weakness	1/4	OMIM:618302
55621	TRMT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618302
55621	TRMT1	HP:0003593	Infantile onset	3/3	OMIM:618302
55621	TRMT1	HP:0000664	Synophrys	3/5	OMIM:618302
55621	TRMT1	HP:0006970	Periventricular leukomalacia	1/4	OMIM:618302
55621	TRMT1	HP:0031936	Delayed ability to walk	3/3	OMIM:618302
55621	TRMT1	HP:0000750	Delayed speech and language development	4/7	OMIM:618302
55621	TRMT1	HP:0045025	Narrow palpebral fissure	2/5	OMIM:618302
55621	TRMT1	HP:0000238	Hydrocephalus	1/4	OMIM:618302
55621	TRMT1	HP:0000252	Microcephaly	3/4	OMIM:618302
55621	TRMT1	HP:0001518	Small for gestational age	3/7	OMIM:618302
55621	TRMT1	HP:0000327	Hypoplasia of the maxilla	3/5	OMIM:618302
55621	TRMT1	HP:0001763	Pes planus	2/2	OMIM:618302
55621	TRMT1	HP:0000411	Protruding ear	2/5	OMIM:618302
55621	TRMT1	HP:0000431	Wide nasal bridge	3/5	OMIM:618302
55621	TRMT1	HP:0011229	Broad eyebrow	2/5	OMIM:618302
55623	THUMPD1	HP:0001274	Agenesis of corpus callosum	1/7	OMIM:619989
55623	THUMPD1	HP:0001249	Intellectual disability	12/12	OMIM:619989
55623	THUMPD1	HP:0001263	Global developmental delay	12/12	OMIM:619989
55623	THUMPD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619989
55623	THUMPD1	HP:0000154	Wide mouth	-	OMIM:619989
55623	THUMPD1	HP:0002000	Short columella	-	OMIM:619989
55623	THUMPD1	HP:0002007	Frontal bossing	-	OMIM:619989
55623	THUMPD1	HP:0003593	Infantile onset	-	OMIM:619989
55623	THUMPD1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6/11	OMIM:619989
55623	THUMPD1	HP:0004322	Short stature	3/10	OMIM:619989
55623	THUMPD1	HP:0000750	Delayed speech and language development	10/10	OMIM:619989
55623	THUMPD1	HP:0030799	Scaphocephaly	-	OMIM:619989
55623	THUMPD1	HP:0045075	Sparse eyebrow	-	OMIM:619989
55623	THUMPD1	HP:0008070	Sparse hair	-	OMIM:619989
55623	THUMPD1	HP:0000286	Epicanthus	-	OMIM:619989
55623	THUMPD1	HP:0000252	Microcephaly	4/10	OMIM:619989
55623	THUMPD1	HP:0000219	Thin upper lip vermilion	-	OMIM:619989
55623	THUMPD1	HP:0000365	Hearing impairment	6/8	OMIM:619989
55623	THUMPD1	HP:0000369	Low-set ears	-	OMIM:619989
55623	THUMPD1	HP:0000319	Smooth philtrum	-	OMIM:619989
55623	THUMPD1	HP:0000316	Hypertelorism	-	OMIM:619989
55623	THUMPD1	HP:0000303	Mandibular prognathia	-	OMIM:619989
55623	THUMPD1	HP:0000494	Downslanted palpebral fissures	-	OMIM:619989
55623	THUMPD1	HP:0000508	Ptosis	-	OMIM:619989
55624	POMGNT1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
55624	POMGNT1	HP:0001133	Constriction of peripheral visual field	4/4	OMIM:617123
55624	POMGNT1	HP:0002435	Meningocele	HP:0040283	ORPHA:588
55624	POMGNT1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
55624	POMGNT1	HP:0001105	Retinal atrophy	-	OMIM:253280
55624	POMGNT1	HP:0007260	Type II lissencephaly	HP:0040282	ORPHA:370959
55624	POMGNT1	HP:0007260	Type II lissencephaly	-	OMIM:253280
55624	POMGNT1	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:370959
55624	POMGNT1	HP:0010864	Intellectual disability, severe	-	OMIM:253280
55624	POMGNT1	HP:0003707	Calf muscle pseudohypertrophy	HP:0040282	ORPHA:370959
55624	POMGNT1	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:370959
55624	POMGNT1	HP:0003701	Proximal muscle weakness	1/1	OMIM:613157
55624	POMGNT1	HP:0003712	Skeletal muscle hypertrophy	HP:0040282	ORPHA:370959
55624	POMGNT1	HP:0003712	Skeletal muscle hypertrophy	-	OMIM:613157
55624	POMGNT1	HP:0001290	Generalized hypotonia	2/2	OMIM:253280
55624	POMGNT1	HP:0001276	Hypertonia	HP:0040282	ORPHA:588
55624	POMGNT1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:899
55624	POMGNT1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0001270	Motor delay	-	OMIM:613151
55624	POMGNT1	HP:0001270	Motor delay	HP:0040283	OMIM:613157
55624	POMGNT1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:588
55624	POMGNT1	HP:0001284	Areflexia	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0001250	Seizure	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0001250	Seizure	1/2	OMIM:253280
55624	POMGNT1	HP:0001250	Seizure	HP:0040282	ORPHA:588
55624	POMGNT1	HP:0001250	Seizure	HP:0040283	ORPHA:899
55624	POMGNT1	HP:0001252	Hypotonia	HP:0040282	ORPHA:588
55624	POMGNT1	HP:0001252	Hypotonia	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0001249	Intellectual disability	-	OMIM:613151
55624	POMGNT1	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:370959
55624	POMGNT1	HP:0001263	Global developmental delay	2/2	OMIM:253280
55624	POMGNT1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0001257	Spasticity	-	OMIM:253280
55624	POMGNT1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:899
55624	POMGNT1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	-	OMIM:253280
55624	POMGNT1	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:588
55624	POMGNT1	HP:0002536	Abnormal cortical gyration	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:588
55624	POMGNT1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:899
55624	POMGNT1	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:899
55624	POMGNT1	HP:0001328	Specific learning disability	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0001324	Muscle weakness	-	OMIM:253280
55624	POMGNT1	HP:0001339	Lissencephaly	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:253280
55624	POMGNT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
55624	POMGNT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613151
55624	POMGNT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613157
55624	POMGNT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617123
55624	POMGNT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
55624	POMGNT1	HP:0001336	Myoclonus	-	OMIM:253280
55624	POMGNT1	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:899
55624	POMGNT1	HP:0001302	Pachygyria	-	OMIM:253280
55624	POMGNT1	HP:0001302	Pachygyria	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0001321	Cerebellar hypoplasia	-	OMIM:253280
55624	POMGNT1	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:370959
55624	POMGNT1	HP:0001321	Cerebellar hypoplasia	-	OMIM:613151
55624	POMGNT1	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:370959
55624	POMGNT1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:899
55624	POMGNT1	HP:0000158	Macroglossia	HP:0040282	ORPHA:370959
55624	POMGNT1	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:899
55624	POMGNT1	HP:0000175	Cleft palate	HP:0040283	ORPHA:899
55624	POMGNT1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
55624	POMGNT1	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
55624	POMGNT1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
55624	POMGNT1	HP:0007663	Reduced visual acuity	4/4	OMIM:617123
55624	POMGNT1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
55624	POMGNT1	HP:0008981	Calf muscle hypertrophy	1/1	OMIM:613157
55624	POMGNT1	HP:0500087	Peripapillary atrophy	2/4	OMIM:617123
55624	POMGNT1	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0012110	Hypoplasia of the pons	-	OMIM:613151
55624	POMGNT1	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0003307	Hyperlordosis	1/1	OMIM:613157
55624	POMGNT1	HP:0003324	Generalized muscle weakness	-	OMIM:253280
55624	POMGNT1	HP:0011800	Midface retrusion	2/2	OMIM:253280
55624	POMGNT1	HP:0002085	Occipital encephalocele	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:588
55624	POMGNT1	HP:0003391	Gowers sign	1/1	OMIM:613157
55624	POMGNT1	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0002119	Ventriculomegaly	-	OMIM:253280
55624	POMGNT1	HP:0002119	Ventriculomegaly	-	OMIM:613151
55624	POMGNT1	HP:0003457	EMG abnormality	HP:0040281	ORPHA:588
55624	POMGNT1	HP:0002126	Polymicrogyria	-	OMIM:253280
55624	POMGNT1	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0002187	Intellectual disability, profound	-	OMIM:253280
55624	POMGNT1	HP:0002198	Dilated fourth ventricle	HP:0040282	ORPHA:370959
55624	POMGNT1	HP:0002169	Clonus	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:588
55624	POMGNT1	HP:0010508	Metatarsus valgus	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0003577	Congenital onset	-	OMIM:253280
55624	POMGNT1	HP:0003577	Congenital onset	-	OMIM:613151
55624	POMGNT1	HP:0003551	Difficulty climbing stairs	-	OMIM:613157
55624	POMGNT1	HP:0003560	Muscular dystrophy	-	OMIM:253280
55624	POMGNT1	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:370959
55624	POMGNT1	HP:0003560	Muscular dystrophy	20/20	OMIM:613151
55624	POMGNT1	HP:0003560	Muscular dystrophy	-	OMIM:613157
55624	POMGNT1	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:613157
55624	POMGNT1	HP:0002282	Gray matter heterotopia	HP:0040282	ORPHA:370959
55624	POMGNT1	HP:0007033	Cerebellar dysplasia	-	OMIM:253280
55624	POMGNT1	HP:0002365	Hypoplasia of the brainstem	-	OMIM:253280
55624	POMGNT1	HP:0002365	Hypoplasia of the brainstem	HP:0040282	ORPHA:370959
55624	POMGNT1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:370959
55624	POMGNT1	HP:0003676	Progressive	-	OMIM:613157
55624	POMGNT1	HP:0002353	EEG abnormality	-	OMIM:253280
55624	POMGNT1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:588
55624	POMGNT1	HP:0002350	Cerebellar cyst	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0002350	Cerebellar cyst	-	OMIM:613151
55624	POMGNT1	HP:0002350	Cerebellar cyst	-	OMIM:253280
55624	POMGNT1	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0007204	Diffuse white matter abnormalities	HP:0040282	ORPHA:370959
55624	POMGNT1	HP:0003621	Juvenile onset	8/19	OMIM:180100
55624	POMGNT1	HP:0003621	Juvenile onset	1/1	OMIM:613157
55624	POMGNT1	HP:0006829	Severe muscular hypotonia	-	OMIM:253280
55624	POMGNT1	HP:0006899	Fusion of the cerebellar hemispheres	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
55624	POMGNT1	HP:0000639	Nystagmus	-	OMIM:253280
55624	POMGNT1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:588
55624	POMGNT1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
55624	POMGNT1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0000648	Optic atrophy	-	OMIM:253280
55624	POMGNT1	HP:0000648	Optic atrophy	-	OMIM:613151
55624	POMGNT1	HP:0000618	Blindness	HP:0040281	ORPHA:791
55624	POMGNT1	HP:0000618	Blindness	HP:0040284	ORPHA:370959
55624	POMGNT1	HP:0000613	Photophobia	HP:0040281	ORPHA:791
55624	POMGNT1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:899
55624	POMGNT1	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
55624	POMGNT1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
55624	POMGNT1	HP:0012695	Decreased thalamic volume	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
55624	POMGNT1	HP:0011344	Severe global developmental delay	-	OMIM:253280
55624	POMGNT1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
55624	POMGNT1	HP:0000662	Nyctalopia	26/28	OMIM:180100
55624	POMGNT1	HP:0000662	Nyctalopia	4/4	OMIM:617123
55624	POMGNT1	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	-	OMIM:253280
55624	POMGNT1	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
55624	POMGNT1	HP:0030631	Hyperautofluorescent macular lesion	-	OMIM:617123
55624	POMGNT1	HP:0006955	Olivopontocerebellar hypoplasia	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:588
55624	POMGNT1	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:588
55624	POMGNT1	HP:0011463	Childhood onset	3/19	OMIM:180100
55624	POMGNT1	HP:0011462	Young adult onset	8/19	OMIM:180100
55624	POMGNT1	HP:0030786	Photopsia	HP:0040283	ORPHA:791
55624	POMGNT1	HP:0003198	Myopathy	HP:0040281	ORPHA:588
55624	POMGNT1	HP:0003194	Short nasal bridge	2/2	OMIM:253280
55624	POMGNT1	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
55624	POMGNT1	HP:0011505	Cystoid macular edema	1/4	OMIM:617123
55624	POMGNT1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
55624	POMGNT1	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:588
55624	POMGNT1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:370959
55624	POMGNT1	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:253280
55624	POMGNT1	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:613151
55624	POMGNT1	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:613157
55624	POMGNT1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0000980	Pallor	-	OMIM:253280
55624	POMGNT1	HP:0100297	Increased endomysial connective tissue	1/1	OMIM:613157
55624	POMGNT1	HP:0008045	Enlarged flash visual evoked potentials	-	OMIM:253280
55624	POMGNT1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
55624	POMGNT1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
55624	POMGNT1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:899
55624	POMGNT1	HP:0000272	Malar flattening	-	OMIM:253280
55624	POMGNT1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
55624	POMGNT1	HP:0007770	Hypoplasia of the retina	-	OMIM:253280
55624	POMGNT1	HP:0007759	Opacification of the corneal stroma	-	OMIM:253280
55624	POMGNT1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
55624	POMGNT1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
55624	POMGNT1	HP:0007737	Bone spicule pigmentation of the retina	2/4	OMIM:617123
55624	POMGNT1	HP:0007738	Uncontrolled eye movements	-	OMIM:253280
55624	POMGNT1	HP:0007731	Chorioretinal dysplasia	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0030099	Reduced muscle fiber alpha dystroglycan	HP:0040281	ORPHA:370959
55624	POMGNT1	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:588
55624	POMGNT1	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:370959
55624	POMGNT1	HP:0000238	Hydrocephalus	2/2	OMIM:253280
55624	POMGNT1	HP:0000252	Microcephaly	HP:0040282	ORPHA:370959
55624	POMGNT1	HP:0000252	Microcephaly	-	OMIM:253280
55624	POMGNT1	HP:0000252	Microcephaly	HP:0040283	ORPHA:899
55624	POMGNT1	HP:0000252	Microcephaly	-	OMIM:613151
55624	POMGNT1	HP:0000232	Everted lower lip vermilion	2/2	OMIM:253280
55624	POMGNT1	HP:0030046	Hypoglycosylation of alpha-dystroglycan	HP:0040281	ORPHA:370959
55624	POMGNT1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
55624	POMGNT1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
55624	POMGNT1	HP:0012378	Fatigue	-	OMIM:613157
55624	POMGNT1	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:588
55624	POMGNT1	HP:0002938	Lumbar hyperlordosis	HP:0040282	ORPHA:370959
55624	POMGNT1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:899
55624	POMGNT1	HP:0011003	High myopia	1/1	OMIM:613157
55624	POMGNT1	HP:0000369	Low-set ears	HP:0040283	ORPHA:899
55624	POMGNT1	HP:0000347	Micrognathia	12/12	OMIM:253280
55624	POMGNT1	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:370959
55624	POMGNT1	HP:0007957	Corneal opacity	HP:0040282	ORPHA:899
55624	POMGNT1	HP:0030329	Retinal thinning	3/3	OMIM:617123
55624	POMGNT1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
55624	POMGNT1	HP:0007973	Retinal dysplasia	-	OMIM:253280
55624	POMGNT1	HP:0007973	Retinal dysplasia	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
55624	POMGNT1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
55624	POMGNT1	HP:0000486	Strabismus	HP:0040281	ORPHA:588
55624	POMGNT1	HP:0000486	Strabismus	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0000486	Strabismus	-	OMIM:253280
55624	POMGNT1	HP:0000486	Strabismus	-	OMIM:613151
55624	POMGNT1	HP:0000485	Megalocornea	-	OMIM:253280
55624	POMGNT1	HP:0000485	Megalocornea	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0000482	Microcornea	HP:0040283	ORPHA:899
55624	POMGNT1	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:370959
55624	POMGNT1	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
55624	POMGNT1	HP:0012400	Abnormal circulating aldolase concentration	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0000411	Protruding ear	HP:0040283	ORPHA:899
55624	POMGNT1	HP:0000518	Cataract	HP:0040282	ORPHA:588
55624	POMGNT1	HP:0000518	Cataract	HP:0040283	ORPHA:899
55624	POMGNT1	HP:0000518	Cataract	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0000518	Cataract	-	OMIM:253280
55624	POMGNT1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
55624	POMGNT1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
55624	POMGNT1	HP:0000528	Anophthalmia	HP:0040282	ORPHA:899
55624	POMGNT1	HP:0000525	Abnormality iris morphology	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0000505	Visual impairment	HP:0040281	ORPHA:588
55624	POMGNT1	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
55624	POMGNT1	HP:0000501	Glaucoma	2/2	OMIM:253280
55624	POMGNT1	HP:0000501	Glaucoma	HP:0040281	ORPHA:588
55624	POMGNT1	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
55624	POMGNT1	HP:0000501	Glaucoma	HP:0040282	ORPHA:899
55624	POMGNT1	HP:0000575	Scotoma	5/18	OMIM:180100
55624	POMGNT1	HP:0000587	Abnormal optic nerve morphology	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0000589	Coloboma	-	OMIM:253280
55624	POMGNT1	HP:0000589	Coloboma	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
55624	POMGNT1	HP:0000557	Buphthalmos	-	OMIM:253280
55624	POMGNT1	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0000568	Microphthalmia	-	OMIM:253280
55624	POMGNT1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:899
55624	POMGNT1	HP:0000568	Microphthalmia	HP:0040284	ORPHA:370959
55624	POMGNT1	HP:0000541	Retinal detachment	HP:0040281	ORPHA:899
55624	POMGNT1	HP:0000541	Retinal detachment	HP:0040284	ORPHA:370959
55624	POMGNT1	HP:0000550	Undetectable electroretinogram	-	OMIM:253280
55624	POMGNT1	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
55624	POMGNT1	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
55624	POMGNT1	HP:0000546	Retinal degeneration	-	OMIM:253280
55624	POMGNT1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
55624	POMGNT1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
55624	POMGNT1	HP:0000545	Myopia	HP:0040281	ORPHA:588
55624	POMGNT1	HP:0000545	Myopia	-	OMIM:180100
55624	POMGNT1	HP:0000545	Myopia	HP:0040283	ORPHA:370959
55624	POMGNT1	HP:0000545	Myopia	2/2	OMIM:253280
55624	POMGNT1	HP:0000545	Myopia	-	OMIM:613151
55627	SMPD4	HP:0001181	Adducted thumb	1/21	OMIM:618622
55627	SMPD4	HP:0009879	Simplified gyral pattern	12/18	OMIM:618622
55627	SMPD4	HP:0001276	Hypertonia	9/15	OMIM:618622
55627	SMPD4	HP:0001250	Seizure	10/17	OMIM:618622
55627	SMPD4	HP:0001252	Hypotonia	4/15	OMIM:618622
55627	SMPD4	HP:0001263	Global developmental delay	7/7	OMIM:618622
55627	SMPD4	HP:0002553	Highly arched eyebrow	2/21	OMIM:618622
55627	SMPD4	HP:0000007	Autosomal recessive inheritance	-	OMIM:618622
55627	SMPD4	HP:0001321	Cerebellar hypoplasia	10/21	OMIM:618622
55627	SMPD4	HP:0002643	Neonatal respiratory distress	14/17	OMIM:618622
55627	SMPD4	HP:0000193	Bifid uvula	1/21	OMIM:618622
55627	SMPD4	HP:0002002	Deep philtrum	1/21	OMIM:618622
55627	SMPD4	HP:0003429	CNS hypomyelination	7/19	OMIM:618622
55627	SMPD4	HP:0011913	Lumbar hypertrichosis	1/21	OMIM:618622
55627	SMPD4	HP:0003561	Birth length less than 3rd percentile	6/11	OMIM:618622
55627	SMPD4	HP:0002365	Hypoplasia of the brainstem	3/20	OMIM:618622
55627	SMPD4	HP:0010804	Tented upper lip vermilion	3/21	OMIM:618622
55627	SMPD4	HP:0000601	Hypotelorism	1/21	OMIM:618622
55627	SMPD4	HP:0012745	Short palpebral fissure	4/21	OMIM:618622
55627	SMPD4	HP:0100336	Bilateral cleft lip	2/21	OMIM:618622
55627	SMPD4	HP:0000819	Diabetes mellitus	2/19	OMIM:618622
55627	SMPD4	HP:0000954	Single transverse palmar crease	1/21	OMIM:618622
55627	SMPD4	HP:0000286	Epicanthus	5/21	OMIM:618622
55627	SMPD4	HP:0000294	Low anterior hairline	2/21	OMIM:618622
55627	SMPD4	HP:0002804	Arthrogryposis multiplex congenita	1/21	OMIM:618622
55627	SMPD4	HP:0000253	Progressive microcephaly	9/10	OMIM:618622
55627	SMPD4	HP:0000252	Microcephaly	15/21	OMIM:618622
55627	SMPD4	HP:0000219	Thin upper lip vermilion	2/21	OMIM:618622
55627	SMPD4	HP:0000233	Thin vermilion border	3/21	OMIM:618622
55627	SMPD4	HP:0001522	Death in infancy	6/18	OMIM:618622
55627	SMPD4	HP:0001511	Intrauterine growth retardation	12/19	OMIM:618622
55627	SMPD4	HP:0000358	Posteriorly rotated ears	2/21	OMIM:618622
55627	SMPD4	HP:0000341	Narrow forehead	1/21	OMIM:618622
55627	SMPD4	HP:0000340	Sloping forehead	4/21	OMIM:618622
55627	SMPD4	HP:0000319	Smooth philtrum	1/21	OMIM:618622
55627	SMPD4	HP:0000322	Short philtrum	2/21	OMIM:618622
55627	SMPD4	HP:0001622	Premature birth	7/18	OMIM:618622
55627	SMPD4	HP:0000303	Mandibular prognathia	2/21	OMIM:618622
55627	SMPD4	HP:0006610	Wide intermamillary distance	1/21	OMIM:618622
55627	SMPD4	HP:0005280	Depressed nasal bridge	1/21	OMIM:618622
55627	SMPD4	HP:0000494	Downslanted palpebral fissures	2/21	OMIM:618622
55627	SMPD4	HP:0000470	Short neck	1/21	OMIM:618622
55627	SMPD4	HP:0000414	Bulbous nose	2/21	OMIM:618622
55627	SMPD4	HP:0000411	Protruding ear	2/21	OMIM:618622
55627	SMPD4	HP:0001838	Rocker bottom foot	2/21	OMIM:618622
55628	ZNF407	HP:0010864	Intellectual disability, severe	1/2	OMIM:619557
55628	ZNF407	HP:0001252	Hypotonia	2/2	OMIM:619557
55628	ZNF407	HP:0001263	Global developmental delay	2/2	OMIM:619557
55628	ZNF407	HP:0001212	Prominent fingertip pads	1/2	OMIM:619557
55628	ZNF407	HP:0025335	Delayed ability to stand	1/2	OMIM:619557
55628	ZNF407	HP:0000007	Autosomal recessive inheritance	-	OMIM:619557
55628	ZNF407	HP:0002650	Scoliosis	0/2	OMIM:619557
55628	ZNF407	HP:0001488	Bilateral ptosis	2/2	OMIM:619557
55628	ZNF407	HP:0002714	Downturned corners of mouth	2/2	OMIM:619557
55628	ZNF407	HP:0004689	Short fourth metatarsal	1/2	OMIM:619557
55628	ZNF407	HP:0011800	Midface retrusion	2/2	OMIM:619557
55628	ZNF407	HP:0003593	Infantile onset	2/2	OMIM:619557
55628	ZNF407	HP:0000664	Synophrys	2/2	OMIM:619557
55628	ZNF407	HP:0004322	Short stature	1/2	OMIM:619557
55628	ZNF407	HP:0005617	Bilateral camptodactyly	1/2	OMIM:619557
55628	ZNF407	HP:0031936	Delayed ability to walk	2/2	OMIM:619557
55628	ZNF407	HP:0000750	Delayed speech and language development	2/2	OMIM:619557
55628	ZNF407	HP:0000286	Epicanthus	2/2	OMIM:619557
55628	ZNF407	HP:0002808	Kyphosis	2/2	OMIM:619557
55628	ZNF407	HP:0000219	Thin upper lip vermilion	2/2	OMIM:619557
55628	ZNF407	HP:0030043	Hip subluxation	1/2	OMIM:619557
55628	ZNF407	HP:0001510	Growth delay	2/2	OMIM:619557
55628	ZNF407	HP:0000387	Absent earlobe	2/2	OMIM:619557
55628	ZNF407	HP:0000365	Hearing impairment	0/2	OMIM:619557
55628	ZNF407	HP:0000486	Strabismus	2/2	OMIM:619557
55628	ZNF407	HP:0000411	Protruding ear	2/2	OMIM:619557
55628	ZNF407	HP:0001845	Overlapping toe	2/2	OMIM:619557
55630	SLC39A4	HP:0100825	Cheilitis	HP:0040282	ORPHA:37
55630	SLC39A4	HP:0001254	Lethargy	-	OMIM:201100
55630	SLC39A4	HP:0001251	Ataxia	-	OMIM:201100
55630	SLC39A4	HP:0008734	Decreased testicular size	-	OMIM:201100
55630	SLC39A4	HP:0000007	Autosomal recessive inheritance	-	OMIM:201100
55630	SLC39A4	HP:0001337	Tremor	-	OMIM:201100
55630	SLC39A4	HP:0000157	Abnormality of the tongue	HP:0040282	ORPHA:37
55630	SLC39A4	HP:0000135	Hypogonadism	-	OMIM:201100
55630	SLC39A4	HP:0002024	Malabsorption	HP:0040281	ORPHA:37
55630	SLC39A4	HP:0002028	Chronic diarrhea	HP:0040281	ORPHA:37
55630	SLC39A4	HP:0002014	Diarrhea	12/27	OMIM:201100
55630	SLC39A4	HP:0033194	Perioral erythema	2/2	OMIM:201100
55630	SLC39A4	HP:0033195	Perianal erythema	2/2	OMIM:201100
55630	SLC39A4	HP:0002039	Anorexia	HP:0040283	ORPHA:37
55630	SLC39A4	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:37
55630	SLC39A4	HP:0011840	Abnormality of T cell physiology	-	OMIM:201100
55630	SLC39A4	HP:0003593	Infantile onset	25/27	OMIM:201100
55630	SLC39A4	HP:0002240	Hepatomegaly	-	OMIM:201100
55630	SLC39A4	HP:0008402	Ridged fingernail	HP:0040282	ORPHA:37
55630	SLC39A4	HP:0002293	Alopecia of scalp	-	OMIM:201100
55630	SLC39A4	HP:0200020	Corneal erosion	HP:0040283	ORPHA:37
55630	SLC39A4	HP:0200039	Pustule	HP:0040281	ORPHA:37
55630	SLC39A4	HP:0200042	Skin ulcer	HP:0040282	ORPHA:37
55630	SLC39A4	HP:0010783	Erythema	HP:0040281	ORPHA:37
55630	SLC39A4	HP:0031831	Decreased serum zinc	19/24	OMIM:201100
55630	SLC39A4	HP:0000613	Photophobia	HP:0040282	ORPHA:37
55630	SLC39A4	HP:0011354	Generalized abnormality of skin	HP:0040281	ORPHA:37
55630	SLC39A4	HP:0004322	Short stature	HP:0040281	ORPHA:37
55630	SLC39A4	HP:0004322	Short stature	-	OMIM:201100
55630	SLC39A4	HP:0004396	Poor appetite	HP:0040283	ORPHA:37
55630	SLC39A4	HP:0004396	Poor appetite	-	OMIM:201100
55630	SLC39A4	HP:0000737	Irritability	-	OMIM:201100
55630	SLC39A4	HP:0000712	Emotional lability	HP:0040282	ORPHA:37
55630	SLC39A4	HP:0000712	Emotional lability	-	OMIM:201100
55630	SLC39A4	HP:0011463	Childhood onset	2/27	OMIM:201100
55630	SLC39A4	HP:0003282	Decreased circulating alkaline phosphatase activity	-	OMIM:201100
55630	SLC39A4	HP:0000958	Dry skin	HP:0040281	ORPHA:37
55630	SLC39A4	HP:0000958	Dry skin	2/2	OMIM:201100
55630	SLC39A4	HP:0040171	Decreased serum testosterone concentration	-	OMIM:201100
55630	SLC39A4	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:37
55630	SLC39A4	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:37
55630	SLC39A4	HP:0001596	Alopecia	HP:0040281	ORPHA:37
55630	SLC39A4	HP:0000221	Furrowed tongue	HP:0040282	ORPHA:37
55630	SLC39A4	HP:0000224	Hypogeusia	-	OMIM:201100
55630	SLC39A4	HP:0000206	Glossitis	HP:0040282	ORPHA:37
55630	SLC39A4	HP:0001508	Failure to thrive	HP:0040282	ORPHA:37
55630	SLC39A4	HP:0001508	Failure to thrive	8/27	OMIM:201100
55630	SLC39A4	HP:0000498	Blepharitis	HP:0040282	ORPHA:37
55630	SLC39A4	HP:0000492	Abnormal eyelid morphology	HP:0040281	ORPHA:37
55630	SLC39A4	HP:0001744	Splenomegaly	-	OMIM:201100
55630	SLC39A4	HP:0005401	Recurrent candida infections	-	OMIM:201100
55630	SLC39A4	HP:0001824	Weight loss	HP:0040283	ORPHA:37
55630	SLC39A4	HP:0000509	Conjunctivitis	HP:0040282	ORPHA:37
55630	SLC39A4	HP:0000505	Visual impairment	HP:0040283	ORPHA:37
55630	SLC39A4	HP:0001807	Ridged nail	HP:0040282	ORPHA:37
55630	SLC39A4	HP:0001818	Paronychia	HP:0040282	ORPHA:37
55630	SLC39A4	HP:0001818	Paronychia	-	OMIM:201100
55630	SLC39A4	HP:0000534	Abnormal eyebrow morphology	HP:0040281	ORPHA:37
55636	CHD7	HP:0001156	Brachydactyly	HP:0040283	ORPHA:138
55636	CHD7	HP:0001161	Hand polydactyly	-	OMIM:214800
55636	CHD7	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:432
55636	CHD7	HP:0009906	Aplasia/Hypoplasia of the earlobes	HP:0040281	ORPHA:138
55636	CHD7	HP:0008551	Microtia	HP:0040283	ORPHA:138
55636	CHD7	HP:0008551	Microtia	-	OMIM:214800
55636	CHD7	HP:0003745	Sporadic	-	OMIM:214800
55636	CHD7	HP:0002410	Aqueductal stenosis	HP:0040283	ORPHA:138
55636	CHD7	HP:0001291	Abnormal cranial nerve morphology	HP:0040281	ORPHA:138
55636	CHD7	HP:0100806	Sepsis	HP:0040283	ORPHA:39041
55636	CHD7	HP:0001270	Motor delay	1/1	OMIM:214800
55636	CHD7	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
55636	CHD7	HP:0001250	Seizure	HP:0040283	ORPHA:478
55636	CHD7	HP:0001252	Hypotonia	HP:0040282	ORPHA:138
55636	CHD7	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
55636	CHD7	HP:0001251	Ataxia	HP:0040283	ORPHA:478
55636	CHD7	HP:0001249	Intellectual disability	HP:0040282	ORPHA:138
55636	CHD7	HP:0001249	Intellectual disability	47/47	OMIM:214800
55636	CHD7	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
55636	CHD7	HP:0001263	Global developmental delay	HP:0040281	ORPHA:138
55636	CHD7	HP:0001263	Global developmental delay	2/2	OMIM:214800
55636	CHD7	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:138
55636	CHD7	HP:0002575	Tracheoesophageal fistula	10/55	OMIM:214800
55636	CHD7	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:39041
55636	CHD7	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:432
55636	CHD7	HP:0008734	Decreased testicular size	1/1	OMIM:146110
55636	CHD7	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
55636	CHD7	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
55636	CHD7	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:432
55636	CHD7	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:138
55636	CHD7	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:138
55636	CHD7	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:138
55636	CHD7	HP:0000089	Renal hypoplasia	-	OMIM:214800
55636	CHD7	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:138
55636	CHD7	HP:0000085	Horseshoe kidney	-	OMIM:214800
55636	CHD7	HP:0000066	Labial hypoplasia	-	OMIM:214800
55636	CHD7	HP:0000066	Labial hypoplasia	HP:0040282	ORPHA:138
55636	CHD7	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:138
55636	CHD7	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:432
55636	CHD7	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:612370
55636	CHD7	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:138
55636	CHD7	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
55636	CHD7	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:214800
55636	CHD7	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
55636	CHD7	HP:0000054	Micropenis	HP:0040281	ORPHA:138
55636	CHD7	HP:0000054	Micropenis	1/1	OMIM:146110
55636	CHD7	HP:0000054	Micropenis	2/3	OMIM:214800
55636	CHD7	HP:0000054	Micropenis	HP:0040281	ORPHA:478
55636	CHD7	HP:0000054	Micropenis	HP:0040281	ORPHA:432
55636	CHD7	HP:0000050	Hypoplastic male external genitalia	-	OMIM:214800
55636	CHD7	HP:0012020	Right aortic arch	1/3	OMIM:214800
55636	CHD7	HP:0000048	Bifid scrotum	HP:0040282	ORPHA:138
55636	CHD7	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:138
55636	CHD7	HP:0001360	Holoprosencephaly	2/144	OMIM:214800
55636	CHD7	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:432
55636	CHD7	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:138
55636	CHD7	HP:0000028	Cryptorchidism	1/3	OMIM:214800
55636	CHD7	HP:0000028	Cryptorchidism	-	OMIM:612370
55636	CHD7	HP:0000028	Cryptorchidism	-	OMIM:146110
55636	CHD7	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
55636	CHD7	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:432
55636	CHD7	HP:0000027	Azoospermia	HP:0040281	ORPHA:432
55636	CHD7	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:138
55636	CHD7	HP:0008897	Postnatal growth retardation	19/19	OMIM:214800
55636	CHD7	HP:0007549	Desquamation of skin soon after birth	HP:0040282	ORPHA:39041
55636	CHD7	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:138
55636	CHD7	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:432
55636	CHD7	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
55636	CHD7	HP:0000013	Hypoplasia of the uterus	HP:0040282	ORPHA:432
55636	CHD7	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040282	ORPHA:138
55636	CHD7	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
55636	CHD7	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
55636	CHD7	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
55636	CHD7	HP:0002665	Lymphoma	HP:0040283	ORPHA:39041
55636	CHD7	HP:0001337	Tremor	HP:0040283	ORPHA:478
55636	CHD7	HP:0000006	Autosomal dominant inheritance	-	OMIM:214800
55636	CHD7	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
55636	CHD7	HP:0000006	Autosomal dominant inheritance	-	OMIM:612370
55636	CHD7	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:138
55636	CHD7	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
55636	CHD7	HP:0002650	Scoliosis	HP:0040283	ORPHA:138
55636	CHD7	HP:0002650	Scoliosis	-	OMIM:214800
55636	CHD7	HP:0003974	Absent radius	HP:0040283	OMIM:214800
55636	CHD7	HP:0002623	Overriding aorta	1/3	OMIM:214800
55636	CHD7	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:432
55636	CHD7	HP:0000160	Narrow mouth	HP:0040282	ORPHA:138
55636	CHD7	HP:0000175	Cleft palate	HP:0040283	ORPHA:138
55636	CHD7	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
55636	CHD7	HP:0000175	Cleft palate	HP:0040283	ORPHA:432
55636	CHD7	HP:0000175	Cleft palate	1/3	OMIM:214800
55636	CHD7	HP:0000175	Cleft palate	-	OMIM:612370
55636	CHD7	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
55636	CHD7	HP:0410030	Cleft lip	-	OMIM:612370
55636	CHD7	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:432
55636	CHD7	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:432
55636	CHD7	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:138
55636	CHD7	HP:0000126	Hydronephrosis	-	OMIM:214800
55636	CHD7	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:432
55636	CHD7	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:39041
55636	CHD7	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
55636	CHD7	HP:0000104	Renal agenesis	-	OMIM:214800
55636	CHD7	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
55636	CHD7	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
55636	CHD7	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:432
55636	CHD7	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:39041
55636	CHD7	HP:0002025	Anal stenosis	-	OMIM:214800
55636	CHD7	HP:0002023	Anal atresia	-	OMIM:214800
55636	CHD7	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:138
55636	CHD7	HP:0002032	Esophageal atresia	-	OMIM:214800
55636	CHD7	HP:0002028	Chronic diarrhea	HP:0040281	ORPHA:39041
55636	CHD7	HP:0002015	Dysphagia	HP:0040282	ORPHA:138
55636	CHD7	HP:0002015	Dysphagia	-	OMIM:214800
55636	CHD7	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:138
55636	CHD7	HP:0002090	Pneumonia	HP:0040282	ORPHA:39041
55636	CHD7	HP:0010443	Bifid femur	1/3	OMIM:214800
55636	CHD7	HP:0010443	Bifid femur	HP:0040283	ORPHA:138
55636	CHD7	HP:0010442	Polydactyly	HP:0040284	ORPHA:138
55636	CHD7	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:432
55636	CHD7	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:432
55636	CHD7	HP:0002139	Arrhinencephaly	11/144	OMIM:214800
55636	CHD7	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
55636	CHD7	HP:0009556	Absent tibia	2/3	OMIM:214800
55636	CHD7	HP:0008213	Gonadotropin deficiency	-	OMIM:214800
55636	CHD7	HP:0010515	Aplasia/Hypoplasia of the thymus	-	OMIM:214800
55636	CHD7	HP:0003577	Congenital onset	2/3	OMIM:214800
55636	CHD7	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:39041
55636	CHD7	HP:0002247	Duodenal atresia	-	OMIM:214800
55636	CHD7	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
55636	CHD7	HP:0002231	Sparse body hair	HP:0040281	ORPHA:432
55636	CHD7	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
55636	CHD7	HP:0100736	Abnormal soft palate morphology	HP:0040282	ORPHA:138
55636	CHD7	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040283	ORPHA:138
55636	CHD7	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:138
55636	CHD7	HP:0011968	Feeding difficulties	-	OMIM:214800
55636	CHD7	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:432
55636	CHD7	HP:0010628	Facial palsy	HP:0040282	ORPHA:138
55636	CHD7	HP:0010628	Facial palsy	5/19	OMIM:214800
55636	CHD7	HP:0001019	Erythroderma	HP:0040281	ORPHA:39041
55636	CHD7	HP:0001018	Abnormal palmar dermatoglyphics	-	OMIM:214800
55636	CHD7	HP:0100646	Thyroiditis	HP:0040283	ORPHA:39041
55636	CHD7	HP:0200021	Down-sloping shoulders	-	OMIM:214800
55636	CHD7	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:432
55636	CHD7	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
55636	CHD7	HP:0001072	Thickened skin	HP:0040282	ORPHA:39041
55636	CHD7	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
55636	CHD7	HP:0010751	Dimple chin	HP:0040282	ORPHA:138
55636	CHD7	HP:0009778	Short thumb	-	OMIM:214800
55636	CHD7	HP:0004935	Pulmonary artery atresia	1/3	OMIM:214800
55636	CHD7	HP:0003621	Juvenile onset	2/2	OMIM:146110
55636	CHD7	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:138
55636	CHD7	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
55636	CHD7	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:138
55636	CHD7	HP:0000639	Nystagmus	HP:0040282	ORPHA:138
55636	CHD7	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
55636	CHD7	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:138
55636	CHD7	HP:0000648	Optic atrophy	HP:0040282	ORPHA:138
55636	CHD7	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:39041
55636	CHD7	HP:0000612	Iris coloboma	HP:0040281	ORPHA:138
55636	CHD7	HP:0000612	Iris coloboma	79%	OMIM:214800
55636	CHD7	HP:0001945	Fever	HP:0040282	ORPHA:39041
55636	CHD7	HP:0000625	Eyelid coloboma	HP:0040283	ORPHA:138
55636	CHD7	HP:0001903	Anemia	HP:0040283	ORPHA:39041
55636	CHD7	HP:0011382	Hypoplasia of the semicircular canal	HP:0040281	ORPHA:138
55636	CHD7	HP:0011381	Aplasia of the semicircular canal	1/2	OMIM:214800
55636	CHD7	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:138
55636	CHD7	HP:0004322	Short stature	HP:0040282	ORPHA:138
55636	CHD7	HP:0004332	Abnormal lymphocyte morphology	HP:0040281	ORPHA:39041
55636	CHD7	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:138
55636	CHD7	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
55636	CHD7	HP:0000802	Impotence	HP:0040281	ORPHA:432
55636	CHD7	HP:0003048	Radial head subluxation	1/3	OMIM:214800
55636	CHD7	HP:0003022	Hypoplasia of the ulna	1/3	OMIM:214800
55636	CHD7	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
55636	CHD7	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:138
55636	CHD7	HP:0000772	Abnormal rib morphology	HP:0040283	ORPHA:138
55636	CHD7	HP:0000772	Abnormal rib morphology	-	OMIM:214800
55636	CHD7	HP:0000771	Gynecomastia	HP:0040282	ORPHA:432
55636	CHD7	HP:0000771	Gynecomastia	0/1	OMIM:146110
55636	CHD7	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
55636	CHD7	HP:0000739	Anxiety	HP:0040282	ORPHA:432
55636	CHD7	HP:0000742	Self-mutilation	1/3	OMIM:214800
55636	CHD7	HP:0000716	Depression	HP:0040282	ORPHA:432
55636	CHD7	HP:0000717	Autism	HP:0040282	ORPHA:138
55636	CHD7	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:138
55636	CHD7	HP:0011480	Unilateral microphthalmos	2/3	OMIM:214800
55636	CHD7	HP:0011461	Fetal onset	1/3	OMIM:214800
55636	CHD7	HP:0000789	Infertility	HP:0040283	OMIM:146110
55636	CHD7	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:432
55636	CHD7	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
55636	CHD7	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
55636	CHD7	HP:0030732	Dysplastic tricuspid valve	1/3	OMIM:214800
55636	CHD7	HP:0004430	Severe combined immunodeficiency	HP:0040281	ORPHA:39041
55636	CHD7	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
55636	CHD7	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
55636	CHD7	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:432
55636	CHD7	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
55636	CHD7	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
55636	CHD7	HP:0004467	Preauricular pit	-	OMIM:187500
55636	CHD7	HP:0000860	Parathyroid hypoplasia	-	OMIM:214800
55636	CHD7	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:432
55636	CHD7	HP:0000834	Abnormality of the adrenal glands	HP:0040283	ORPHA:138
55636	CHD7	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:138
55636	CHD7	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
55636	CHD7	HP:0000829	Hypoparathyroidism	1/3	OMIM:214800
55636	CHD7	HP:0000821	Hypothyroidism	-	OMIM:214800
55636	CHD7	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:39041
55636	CHD7	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:214800
55636	CHD7	HP:0000823	Delayed puberty	HP:0040282	ORPHA:432
55636	CHD7	HP:0000823	Delayed puberty	HP:0040281	ORPHA:138
55636	CHD7	HP:0000823	Delayed puberty	-	OMIM:214800
55636	CHD7	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
55636	CHD7	HP:0003241	External genital hypoplasia	11/22	OMIM:214800
55636	CHD7	HP:0000989	Pruritus	HP:0040282	ORPHA:39041
55636	CHD7	HP:0011611	Interrupted aortic arch	HP:0040282	ORPHA:138
55636	CHD7	HP:0000958	Dry skin	HP:0040282	ORPHA:39041
55636	CHD7	HP:0000969	Edema	HP:0040282	ORPHA:39041
55636	CHD7	HP:0000939	Osteoporosis	HP:0040282	ORPHA:432
55636	CHD7	HP:0000938	Osteopenia	HP:0040282	ORPHA:432
55636	CHD7	HP:0000944	Abnormal metaphysis morphology	HP:0040283	ORPHA:39041
55636	CHD7	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:432
55636	CHD7	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
55636	CHD7	HP:0000286	Epicanthus	HP:0040283	ORPHA:138
55636	CHD7	HP:0001596	Alopecia	HP:0040281	ORPHA:39041
55636	CHD7	HP:0000275	Narrow face	HP:0040282	ORPHA:138
55636	CHD7	HP:0000272	Malar flattening	-	OMIM:214800
55636	CHD7	HP:0005113	Aortic arch aneurysm	HP:0040282	ORPHA:138
55636	CHD7	HP:0000252	Microcephaly	HP:0040283	ORPHA:138
55636	CHD7	HP:0000252	Microcephaly	-	OMIM:214800
55636	CHD7	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:138
55636	CHD7	HP:0001561	Polyhydramnios	1/3	OMIM:214800
55636	CHD7	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
55636	CHD7	HP:0030019	Increased female libido	HP:0040281	ORPHA:432
55636	CHD7	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:138
55636	CHD7	HP:0001537	Umbilical hernia	-	OMIM:214800
55636	CHD7	HP:0001539	Omphalocele	HP:0040284	ORPHA:138
55636	CHD7	HP:0001539	Omphalocele	-	OMIM:214800
55636	CHD7	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:138
55636	CHD7	HP:0000204	Cleft upper lip	-	OMIM:214800
55636	CHD7	HP:0001508	Failure to thrive	HP:0040281	ORPHA:39041
55636	CHD7	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:138
55636	CHD7	HP:0001513	Obesity	HP:0040283	ORPHA:478
55636	CHD7	HP:0012385	Camptodactyly	HP:0040283	ORPHA:432
55636	CHD7	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:138
55636	CHD7	HP:0000378	Cupped ear	-	OMIM:214800
55636	CHD7	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:138
55636	CHD7	HP:0000396	Overfolded helix	HP:0040281	ORPHA:138
55636	CHD7	HP:0000394	Lop ear	-	OMIM:214800
55636	CHD7	HP:0002937	Hemivertebrae	HP:0040283	ORPHA:138
55636	CHD7	HP:0002937	Hemivertebrae	-	OMIM:214800
55636	CHD7	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:432
55636	CHD7	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
55636	CHD7	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:138
55636	CHD7	HP:0002901	Hypocalcemia	-	OMIM:214800
55636	CHD7	HP:0000365	Hearing impairment	HP:0040281	ORPHA:138
55636	CHD7	HP:0000359	Abnormality of the inner ear	HP:0040281	ORPHA:138
55636	CHD7	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:138
55636	CHD7	HP:0000369	Low-set ears	2/3	OMIM:214800
55636	CHD7	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:138
55636	CHD7	HP:0000337	Broad forehead	-	OMIM:187500
55636	CHD7	HP:0001684	Secundum atrial septal defect	1/3	OMIM:214800
55636	CHD7	HP:0000347	Micrognathia	-	OMIM:214800
55636	CHD7	HP:0000321	Square face	-	OMIM:214800
55636	CHD7	HP:0000316	Hypertelorism	HP:0040283	ORPHA:138
55636	CHD7	HP:0000316	Hypertelorism	-	OMIM:214800
55636	CHD7	HP:0000316	Hypertelorism	HP:0040283	ORPHA:432
55636	CHD7	HP:0001646	Abnormal aortic valve morphology	HP:0040282	ORPHA:138
55636	CHD7	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:138
55636	CHD7	HP:0001643	Patent ductus arteriosus	1/3	OMIM:214800
55636	CHD7	HP:0001642	Pulmonic stenosis	1/3	OMIM:214800
55636	CHD7	HP:0002992	Abnormal tibia morphology	HP:0040283	ORPHA:138
55636	CHD7	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:138
55636	CHD7	HP:0000324	Facial asymmetry	36/56	OMIM:214800
55636	CHD7	HP:0002960	Autoimmunity	HP:0040283	ORPHA:39041
55636	CHD7	HP:0001629	Ventricular septal defect	3/3	OMIM:214800
55636	CHD7	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:138
55636	CHD7	HP:0001636	Tetralogy of Fallot	-	OMIM:214800
55636	CHD7	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
55636	CHD7	HP:0001631	Atrial septal defect	-	OMIM:214800
55636	CHD7	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:432
55636	CHD7	HP:0004058	Hand monodactyly	1/3	OMIM:214800
55636	CHD7	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:214800
55636	CHD7	HP:0000407	Sensorineural hearing impairment	-	OMIM:612370
55636	CHD7	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
55636	CHD7	HP:0001719	Double outlet right ventricle	1/3	OMIM:214800
55636	CHD7	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:138
55636	CHD7	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:432
55636	CHD7	HP:0000486	Strabismus	HP:0040282	ORPHA:138
55636	CHD7	HP:0000480	Retinal coloboma	-	OMIM:214800
55636	CHD7	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:138
55636	CHD7	HP:0000494	Downslanted palpebral fissures	-	OMIM:214800
55636	CHD7	HP:0000458	Anosmia	HP:0040282	OMIM:612370
55636	CHD7	HP:0000458	Anosmia	HP:0040281	ORPHA:138
55636	CHD7	HP:0000458	Anosmia	-	OMIM:214800
55636	CHD7	HP:0000458	Anosmia	HP:0040281	ORPHA:478
55636	CHD7	HP:0000465	Webbed neck	HP:0040284	ORPHA:138
55636	CHD7	HP:0000465	Webbed neck	-	OMIM:214800
55636	CHD7	HP:0001763	Pes planus	HP:0040283	ORPHA:478
55636	CHD7	HP:0000453	Choanal atresia	HP:0040282	ORPHA:138
55636	CHD7	HP:0000453	Choanal atresia	34/69	OMIM:214800
55636	CHD7	HP:0001776	Bilateral talipes equinovarus	2/3	OMIM:214800
55636	CHD7	HP:0000410	Mixed hearing impairment	-	OMIM:214800
55636	CHD7	HP:0001744	Splenomegaly	HP:0040282	ORPHA:39041
55636	CHD7	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
55636	CHD7	HP:0000518	Cataract	1/3	OMIM:214800
55636	CHD7	HP:0000528	Anophthalmia	HP:0040282	ORPHA:138
55636	CHD7	HP:0000528	Anophthalmia	-	OMIM:214800
55636	CHD7	HP:0000520	Proptosis	-	OMIM:187500
55636	CHD7	HP:0000508	Ptosis	HP:0040282	ORPHA:138
55636	CHD7	HP:0000508	Ptosis	-	OMIM:214800
55636	CHD7	HP:0000508	Ptosis	HP:0040283	ORPHA:478
55636	CHD7	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
55636	CHD7	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:138
55636	CHD7	HP:0001831	Short toe	HP:0040283	ORPHA:39041
55636	CHD7	HP:0000589	Coloboma	HP:0040281	ORPHA:138
55636	CHD7	HP:0000589	Coloboma	53/69	OMIM:214800
55636	CHD7	HP:0001888	Decreased total lymphocyte count	-	OMIM:214800
55636	CHD7	HP:0000568	Microphthalmia	HP:0040282	ORPHA:138
55636	CHD7	HP:0000568	Microphthalmia	-	OMIM:214800
55636	CHD7	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:138
55636	CHD7	HP:0001880	Increased total eosinophil count	HP:0040282	ORPHA:39041
55636	CHD7	HP:0001883	Talipes	HP:0040283	ORPHA:138
55636	CHD7	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
55640	FLVCR2	HP:0001274	Agenesis of corpus callosum	-	OMIM:225790
55640	FLVCR2	HP:0001250	Seizure	-	OMIM:225790
55640	FLVCR2	HP:0001263	Global developmental delay	-	OMIM:225790
55640	FLVCR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:225790
55640	FLVCR2	HP:0001305	Dandy-Walker malformation	-	OMIM:225790
55640	FLVCR2	HP:0001321	Cerebellar hypoplasia	-	OMIM:225790
55640	FLVCR2	HP:0000175	Cleft palate	1/7	OMIM:225790
55640	FLVCR2	HP:0002119	Ventriculomegaly	6/6	OMIM:225790
55640	FLVCR2	HP:0002126	Polymicrogyria	1/7	OMIM:225790
55640	FLVCR2	HP:0003577	Congenital onset	7/7	OMIM:225790
55640	FLVCR2	HP:0001059	Pterygium	2/7	OMIM:225790
55640	FLVCR2	HP:0002365	Hypoplasia of the brainstem	2/7	OMIM:225790
55640	FLVCR2	HP:0002324	Hydranencephaly	3/7	OMIM:225790
55640	FLVCR2	HP:0002304	Akinesia	-	OMIM:225790
55640	FLVCR2	HP:0009004	Hypoplasia of the musculature	1/7	OMIM:225790
55640	FLVCR2	HP:0034392	Joint contracture	6/7	OMIM:225790
55640	FLVCR2	HP:0000238	Hydrocephalus	5/7	OMIM:225790
55640	FLVCR2	HP:0000252	Microcephaly	-	OMIM:225790
55640	FLVCR2	HP:0001561	Polyhydramnios	-	OMIM:225790
55640	FLVCR2	HP:0001511	Intrauterine growth retardation	-	OMIM:225790
55640	FLVCR2	HP:0000347	Micrognathia	-	OMIM:225790
55640	FLVCR2	HP:0001622	Premature birth	-	OMIM:225790
55640	FLVCR2	HP:0000476	Cystic hygroma	1/7	OMIM:225790
55640	FLVCR2	HP:0001883	Talipes	5/7	OMIM:225790
55644	OSGEP	HP:0001181	Adducted thumb	HP:0040283	ORPHA:2065
55644	OSGEP	HP:0001166	Arachnodactyly	1/2	OMIM:617729
55644	OSGEP	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:617729
55644	OSGEP	HP:0009879	Simplified gyral pattern	-	OMIM:617729
55644	OSGEP	HP:0002410	Aqueductal stenosis	HP:0040283	ORPHA:2065
55644	OSGEP	HP:0001276	Hypertonia	HP:0040283	ORPHA:2065
55644	OSGEP	HP:0001272	Cerebellar atrophy	-	OMIM:617729
55644	OSGEP	HP:0001250	Seizure	-	OMIM:617729
55644	OSGEP	HP:0001250	Seizure	HP:0040282	ORPHA:2065
55644	OSGEP	HP:0001252	Hypotonia	1/2	OMIM:617729
55644	OSGEP	HP:0001252	Hypotonia	HP:0040283	ORPHA:2065
55644	OSGEP	HP:0001249	Intellectual disability	-	OMIM:617729
55644	OSGEP	HP:0001263	Global developmental delay	2/2	OMIM:617729
55644	OSGEP	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2065
55644	OSGEP	HP:0001257	Spasticity	-	OMIM:617729
55644	OSGEP	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:2065
55644	OSGEP	HP:0000096	Glomerular sclerosis	-	OMIM:617729
55644	OSGEP	HP:0000093	Proteinuria	-	OMIM:617729
55644	OSGEP	HP:0000093	Proteinuria	HP:0040281	ORPHA:2065
55644	OSGEP	HP:0001339	Lissencephaly	-	OMIM:617729
55644	OSGEP	HP:0000007	Autosomal recessive inheritance	-	OMIM:617729
55644	OSGEP	HP:0001302	Pachygyria	-	OMIM:617729
55644	OSGEP	HP:0001302	Pachygyria	HP:0040282	ORPHA:2065
55644	OSGEP	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:2065
55644	OSGEP	HP:0000160	Narrow mouth	-	OMIM:617729
55644	OSGEP	HP:0000100	Nephrotic syndrome	-	OMIM:617729
55644	OSGEP	HP:0000100	Nephrotic syndrome	HP:0040281	ORPHA:2065
55644	OSGEP	HP:0000112	Nephropathy	HP:0040281	ORPHA:2065
55644	OSGEP	HP:0002036	Hiatus hernia	HP:0040282	ORPHA:2065
55644	OSGEP	HP:0002036	Hiatus hernia	-	OMIM:617729
55644	OSGEP	HP:0002007	Frontal bossing	1/2	OMIM:617729
55644	OSGEP	HP:0011800	Midface retrusion	-	OMIM:617729
55644	OSGEP	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:2065
55644	OSGEP	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:617729
55644	OSGEP	HP:0002059	Cerebral atrophy	1/2	OMIM:617729
55644	OSGEP	HP:0002119	Ventriculomegaly	-	OMIM:617729
55644	OSGEP	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2065
55644	OSGEP	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:2065
55644	OSGEP	HP:0003577	Congenital onset	2/2	OMIM:617729
55644	OSGEP	HP:0100720	Hypoplasia of the ear cartilage	HP:0040281	ORPHA:2065
55644	OSGEP	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2065
55644	OSGEP	HP:0000639	Nystagmus	2/2	OMIM:617729
55644	OSGEP	HP:0001967	Diffuse mesangial sclerosis	-	OMIM:617729
55644	OSGEP	HP:0000601	Hypotelorism	HP:0040283	ORPHA:2065
55644	OSGEP	HP:0004322	Short stature	-	OMIM:617729
55644	OSGEP	HP:0004322	Short stature	HP:0040282	ORPHA:2065
55644	OSGEP	HP:0003073	Hypoalbuminemia	-	OMIM:617729
55644	OSGEP	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:2065
55644	OSGEP	HP:0000767	Pectus excavatum	1/2	OMIM:617729
55644	OSGEP	HP:0000750	Delayed speech and language development	-	OMIM:617729
55644	OSGEP	HP:0000822	Hypertension	1/2	OMIM:617729
55644	OSGEP	HP:0000969	Edema	-	OMIM:617729
55644	OSGEP	HP:0000286	Epicanthus	-	OMIM:617729
55644	OSGEP	HP:0005108	Abnormal intervertebral disk morphology	HP:0040283	ORPHA:2065
55644	OSGEP	HP:0002827	Hip dislocation	-	OMIM:617729
55644	OSGEP	HP:0000252	Microcephaly	2/2	OMIM:617729
55644	OSGEP	HP:0000252	Microcephaly	HP:0040281	ORPHA:2065
55644	OSGEP	HP:0000218	High palate	-	OMIM:617729
55644	OSGEP	HP:0001562	Oligohydramnios	-	OMIM:617729
55644	OSGEP	HP:0001508	Failure to thrive	2/2	OMIM:617729
55644	OSGEP	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2065
55644	OSGEP	HP:0001511	Intrauterine growth retardation	-	OMIM:617729
55644	OSGEP	HP:0012385	Camptodactyly	-	OMIM:617729
55644	OSGEP	HP:0000369	Low-set ears	-	OMIM:617729
55644	OSGEP	HP:0000341	Narrow forehead	-	OMIM:617729
55644	OSGEP	HP:0000340	Sloping forehead	-	OMIM:617729
55644	OSGEP	HP:0001680	Coarctation of aorta	1/2	OMIM:617729
55644	OSGEP	HP:0000347	Micrognathia	HP:0040283	ORPHA:2065
55644	OSGEP	HP:0000347	Micrognathia	-	OMIM:617729
55644	OSGEP	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2065
55644	OSGEP	HP:0000316	Hypertelorism	-	OMIM:617729
55644	OSGEP	HP:0001622	Premature birth	HP:0040282	ORPHA:2065
55644	OSGEP	HP:0000400	Macrotia	HP:0040282	ORPHA:2065
55644	OSGEP	HP:0000486	Strabismus	-	OMIM:617729
55644	OSGEP	HP:0000494	Downslanted palpebral fissures	2/2	OMIM:617729
55644	OSGEP	HP:0000490	Deeply set eye	-	OMIM:617729
55644	OSGEP	HP:0000505	Visual impairment	-	OMIM:617729
55644	OSGEP	HP:0000568	Microphthalmia	2/2	OMIM:617729
55650	PIGV	HP:0001182	Tapered finger	-	OMIM:239300
55650	PIGV	HP:0001195	Single umbilical artery	HP:0040283	ORPHA:247262
55650	PIGV	HP:0010864	Intellectual disability, severe	-	OMIM:239300
55650	PIGV	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:247262
55650	PIGV	HP:0009882	Short distal phalanx of finger	7/7	OMIM:239300
55650	PIGV	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:247262
55650	PIGV	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55650	PIGV	HP:0001293	Cranial nerve compression	-	OMIM:131300
55650	PIGV	HP:0001290	Generalized hypotonia	-	OMIM:239300
55650	PIGV	HP:0001288	Gait disturbance	HP:0040283	ORPHA:247262
55650	PIGV	HP:0001250	Seizure	3/5	OMIM:239300
55650	PIGV	HP:0001250	Seizure	HP:0040281	ORPHA:247262
55650	PIGV	HP:0001252	Hypotonia	5/5	OMIM:239300
55650	PIGV	HP:0001252	Hypotonia	2/7	OMIM:615777
55650	PIGV	HP:0001251	Ataxia	HP:0040283	ORPHA:247262
55650	PIGV	HP:0001249	Intellectual disability	7/7	OMIM:239300
55650	PIGV	HP:0001249	Intellectual disability	HP:0040282	ORPHA:247262
55650	PIGV	HP:0001249	Intellectual disability	5/7	OMIM:615777
55650	PIGV	HP:0001263	Global developmental delay	7/7	OMIM:239300
55650	PIGV	HP:0001263	Global developmental delay	HP:0040281	ORPHA:247262
55650	PIGV	HP:0001263	Global developmental delay	-	OMIM:615777
55650	PIGV	HP:0002558	Supernumerary nipple	HP:0040283	ORPHA:247262
55650	PIGV	HP:0006118	Shortening of all distal phalanges of the fingers	HP:0040281	ORPHA:247262
55650	PIGV	HP:0002553	Highly arched eyebrow	-	OMIM:239300
55650	PIGV	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:247262
55650	PIGV	HP:0001216	Delayed ossification of carpal bones	2/3	OMIM:239300
55650	PIGV	HP:0002515	Waddling gait	54/102	OMIM:131300
55650	PIGV	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:247262
55650	PIGV	HP:0001382	Joint hypermobility	-	OMIM:615777
55650	PIGV	HP:0002696	Abnormal parietal bone morphology	HP:0040283	ORPHA:247262
55650	PIGV	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55650	PIGV	HP:0001357	Plagiocephaly	-	OMIM:239300
55650	PIGV	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:247262
55650	PIGV	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55650	PIGV	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55650	PIGV	HP:0001324	Muscle weakness	40/96	OMIM:131300
55650	PIGV	HP:0001344	Absent speech	6/6	OMIM:239300
55650	PIGV	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55650	PIGV	HP:0000007	Autosomal recessive inheritance	-	OMIM:239300
55650	PIGV	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55650	PIGV	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55650	PIGV	HP:0001336	Myoclonus	HP:0040283	ORPHA:247262
55650	PIGV	HP:0002650	Scoliosis	HP:0040283	ORPHA:247262
55650	PIGV	HP:0002650	Scoliosis	12/14	OMIM:131300
55650	PIGV	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:247262
55650	PIGV	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55650	PIGV	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55650	PIGV	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55650	PIGV	HP:0000193	Bifid uvula	HP:0040283	ORPHA:247262
55650	PIGV	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55650	PIGV	HP:0000175	Cleft palate	1/7	OMIM:239300
55650	PIGV	HP:0000175	Cleft palate	2/7	OMIM:615777
55650	PIGV	HP:0008947	Floppy infant	HP:0040281	ORPHA:247262
55650	PIGV	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:247262
55650	PIGV	HP:0002714	Downturned corners of mouth	6/7	OMIM:239300
55650	PIGV	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:247262
55650	PIGV	HP:0002019	Constipation	2/5	OMIM:239300
55650	PIGV	HP:0002034	Abnormal rectum morphology	4/7	OMIM:239300
55650	PIGV	HP:0011800	Midface retrusion	-	OMIM:239300
55650	PIGV	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:247262
55650	PIGV	HP:0003388	Easy fatigability	36/76	OMIM:131300
55650	PIGV	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55650	PIGV	HP:0002120	Cerebral cortical atrophy	-	OMIM:239300
55650	PIGV	HP:0002251	Aganglionic megacolon	1/7	OMIM:239300
55650	PIGV	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:247262
55650	PIGV	HP:0011968	Feeding difficulties	HP:0040283	OMIM:239300
55650	PIGV	HP:0003510	Severe short stature	7/7	OMIM:615777
55650	PIGV	HP:0002392	EEG with polyspike wave complexes	HP:0040283	ORPHA:247262
55650	PIGV	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:247262
55650	PIGV	HP:0001009	Telangiectasia	HP:0040283	ORPHA:247262
55650	PIGV	HP:0002315	Headache	-	OMIM:131300
55650	PIGV	HP:0004976	Knee dislocation	6/7	OMIM:615777
55650	PIGV	HP:0010804	Tented upper lip vermilion	-	OMIM:239300
55650	PIGV	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:247262
55650	PIGV	HP:0001090	Abnormally large globe	HP:0040282	OMIM:239300
55650	PIGV	HP:0009803	Short phalanx of finger	-	OMIM:615777
55650	PIGV	HP:0009763	Limb pain	63/92	OMIM:131300
55650	PIGV	HP:0002305	Athetosis	-	OMIM:239300
55650	PIGV	HP:0003621	Juvenile onset	-	OMIM:131300
55650	PIGV	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55650	PIGV	HP:0006808	Cerebral hypomyelination	HP:0040283	ORPHA:247262
55650	PIGV	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55650	PIGV	HP:0000637	Long palpebral fissure	HP:0040282	OMIM:239300
55650	PIGV	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:247262
55650	PIGV	HP:6001056	Out-toeing	-	OMIM:131300
55650	PIGV	HP:0000651	Diplopia	-	OMIM:131300
55650	PIGV	HP:0001956	Truncal obesity	2/7	OMIM:615777
55650	PIGV	HP:0001903	Anemia	HP:0040283	OMIM:131300
55650	PIGV	HP:0010049	Short metacarpal	-	OMIM:615777
55650	PIGV	HP:0000678	Dental crowding	-	OMIM:615777
55650	PIGV	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:247262
55650	PIGV	HP:0000670	Carious teeth	-	OMIM:131300
55650	PIGV	HP:0011304	Broad thumb	2/7	OMIM:615777
55650	PIGV	HP:0000668	Hypodontia	-	OMIM:615777
55650	PIGV	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:247262
55650	PIGV	HP:0000664	Synophrys	-	OMIM:615777
55650	PIGV	HP:0004396	Poor appetite	-	OMIM:131300
55650	PIGV	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55650	PIGV	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55650	PIGV	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55650	PIGV	HP:0003026	Short long bone	7/7	OMIM:615777
55650	PIGV	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55650	PIGV	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:247262
55650	PIGV	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55650	PIGV	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55650	PIGV	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55650	PIGV	HP:0000750	Delayed speech and language development	HP:0040283	OMIM:239300
55650	PIGV	HP:0000750	Delayed speech and language development	-	OMIM:615777
55650	PIGV	HP:0000729	Autistic behavior	HP:0040283	ORPHA:247262
55650	PIGV	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:247262
55650	PIGV	HP:0011461	Fetal onset	7/7	OMIM:615777
55650	PIGV	HP:0000774	Narrow chest	2/7	OMIM:615777
55650	PIGV	HP:0003196	Short nose	-	OMIM:239300
55650	PIGV	HP:0000926	Platyspondyly	1/7	OMIM:615777
55650	PIGV	HP:0003180	Flat acetabular roof	-	OMIM:615777
55650	PIGV	HP:0003155	Elevated circulating alkaline phosphatase concentration	7/7	OMIM:239300
55650	PIGV	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040281	ORPHA:247262
55650	PIGV	HP:0004482	Relative macrocephaly	-	OMIM:615777
55650	PIGV	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55650	PIGV	HP:0000823	Delayed puberty	-	OMIM:131300
55650	PIGV	HP:0000894	Short clavicles	-	OMIM:615777
55650	PIGV	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55650	PIGV	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55650	PIGV	HP:0040194	Increased head circumference	HP:0040283	ORPHA:247262
55650	PIGV	HP:0040195	Decreased head circumference	HP:0040283	ORPHA:247262
55650	PIGV	HP:0000286	Epicanthus	HP:0040283	ORPHA:247262
55650	PIGV	HP:0000286	Epicanthus	1/7	OMIM:615777
55650	PIGV	HP:0000280	Coarse facial features	HP:0040283	ORPHA:247262
55650	PIGV	HP:0000280	Coarse facial features	2/7	OMIM:615777
55650	PIGV	HP:0000289	Broad philtrum	HP:0040283	ORPHA:247262
55650	PIGV	HP:0000272	Malar flattening	-	OMIM:239300
55650	PIGV	HP:0002827	Hip dislocation	3/7	OMIM:615777
55650	PIGV	HP:0030084	Clinodactyly	HP:0040283	ORPHA:247262
55650	PIGV	HP:0000238	Hydrocephalus	1/3	OMIM:239300
55650	PIGV	HP:0000252	Microcephaly	-	OMIM:615777
55650	PIGV	HP:0000248	Brachycephaly	HP:0040283	ORPHA:247262
55650	PIGV	HP:0012210	Abnormal renal morphology	-	OMIM:239300
55650	PIGV	HP:0000219	Thin upper lip vermilion	HP:0040282	OMIM:239300
55650	PIGV	HP:0000218	High palate	HP:0040283	ORPHA:247262
55650	PIGV	HP:0001545	Anteriorly placed anus	2/5	OMIM:239300
55650	PIGV	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:247262
55650	PIGV	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:247262
55650	PIGV	HP:0002857	Genu valgum	-	OMIM:131300
55650	PIGV	HP:0001533	Slender build	-	OMIM:131300
55650	PIGV	HP:0000204	Cleft upper lip	1/7	OMIM:239300
55650	PIGV	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55650	PIGV	HP:0001510	Growth delay	HP:0040282	ORPHA:247262
55650	PIGV	HP:0007807	Optic nerve compression	-	OMIM:131300
55650	PIGV	HP:0012368	Flat face	7/7	OMIM:615777
55650	PIGV	HP:0000378	Cupped ear	HP:0040283	ORPHA:247262
55650	PIGV	HP:0000391	Thickened helices	HP:0040283	ORPHA:247262
55650	PIGV	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55650	PIGV	HP:0000365	Hearing impairment	-	OMIM:239300
55650	PIGV	HP:0000365	Hearing impairment	10/67	OMIM:131300
55650	PIGV	HP:0000358	Posteriorly rotated ears	HP:0040282	OMIM:239300
55650	PIGV	HP:0000343	Long philtrum	1/7	OMIM:615777
55650	PIGV	HP:0011001	Increased bone mineral density	-	OMIM:131300
55650	PIGV	HP:0000347	Micrognathia	HP:0040283	ORPHA:247262
55650	PIGV	HP:0000316	Hypertelorism	6/7	OMIM:239300
55650	PIGV	HP:0000316	Hypertelorism	HP:0040281	ORPHA:247262
55650	PIGV	HP:0000311	Round face	HP:0040283	ORPHA:247262
55650	PIGV	HP:0000311	Round face	2/7	OMIM:615777
55650	PIGV	HP:0000322	Short philtrum	-	OMIM:239300
55650	PIGV	HP:0000322	Short philtrum	HP:0040283	ORPHA:247262
55650	PIGV	HP:0001627	Abnormal heart morphology	-	OMIM:239300
55650	PIGV	HP:0002970	Genu varum	-	OMIM:615777
55650	PIGV	HP:0000303	Mandibular prognathia	-	OMIM:239300
55650	PIGV	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:247262
55650	PIGV	HP:0000303	Mandibular prognathia	-	OMIM:131300
55650	PIGV	HP:0000407	Sensorineural hearing impairment	2/3	OMIM:239300
55650	PIGV	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55650	PIGV	HP:0001792	Small nail	HP:0040282	OMIM:239300
55650	PIGV	HP:0001792	Small nail	HP:0040283	ORPHA:247262
55650	PIGV	HP:0001795	Hyperconvex nail	-	OMIM:239300
55650	PIGV	HP:0012448	Delayed myelination	-	OMIM:239300
55650	PIGV	HP:0000455	Broad nasal tip	6/7	OMIM:239300
55650	PIGV	HP:0000470	Short neck	HP:0040283	ORPHA:247262
55650	PIGV	HP:0000470	Short neck	1/7	OMIM:615777
55650	PIGV	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55650	PIGV	HP:0001763	Pes planus	1/7	OMIM:615777
55650	PIGV	HP:0000414	Bulbous nose	HP:0040283	ORPHA:247262
55650	PIGV	HP:0000431	Wide nasal bridge	6/7	OMIM:239300
55650	PIGV	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:247262
55650	PIGV	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:247262
55650	PIGV	HP:0001840	Metatarsus adductus	-	OMIM:615777
55650	PIGV	HP:0000520	Proptosis	2/4	OMIM:131300
55650	PIGV	HP:0000520	Proptosis	7/7	OMIM:615777
55650	PIGV	HP:0001831	Short toe	HP:0040283	OMIM:239300
55650	PIGV	HP:0000582	Upslanted palpebral fissure	HP:0040282	OMIM:239300
55650	PIGV	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:247262
55650	PIGV	HP:0000594	Shallow anterior chamber	HP:0040283	ORPHA:247262
55650	PIGV	HP:0000592	Blue sclerae	2/7	OMIM:615777
55650	PIGV	HP:0000565	Esotropia	HP:0040283	ORPHA:247262
55650	PIGV	HP:0000540	Hypermetropia	HP:0040283	ORPHA:247262
55650	PIGV	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55650	PIGV	HP:0012514	Lower limb pain	4/4	OMIM:131300
55651	NHP2	HP:0009926	Epiphora	-	OMIM:224230
55651	NHP2	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:1775
55651	NHP2	HP:0001249	Intellectual disability	-	OMIM:224230
55651	NHP2	HP:0001249	Intellectual disability	1/2	OMIM:613987
55651	NHP2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1775
55651	NHP2	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1775
55651	NHP2	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1775
55651	NHP2	HP:0007427	Reticulated skin pigmentation	1/2	OMIM:613987
55651	NHP2	HP:0008661	Urethral stenosis	HP:0040282	ORPHA:1775
55651	NHP2	HP:0002514	Cerebral calcification	1/2	OMIM:613987
55651	NHP2	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:1775
55651	NHP2	HP:0001399	Hepatic failure	HP:0040283	ORPHA:1775
55651	NHP2	HP:0001395	Hepatic fibrosis	-	OMIM:224230
55651	NHP2	HP:0001394	Cirrhosis	1/2	OMIM:613987
55651	NHP2	HP:0001394	Cirrhosis	HP:0040283	ORPHA:1775
55651	NHP2	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:1775
55651	NHP2	HP:0000029	Testicular atrophy	1/2	OMIM:613987
55651	NHP2	HP:0002664	Neoplasm	HP:0040282	ORPHA:1775
55651	NHP2	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040282	ORPHA:1775
55651	NHP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:224230
55651	NHP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613987
55651	NHP2	HP:0002665	Lymphoma	HP:0040283	ORPHA:1775
55651	NHP2	HP:0002650	Scoliosis	HP:0040283	ORPHA:1775
55651	NHP2	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:1775
55651	NHP2	HP:0007588	Reticular hyperpigmentation	3/3	OMIM:224230
55651	NHP2	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:1775
55651	NHP2	HP:0002745	Oral leukoplakia	0/3	OMIM:224230
55651	NHP2	HP:0002745	Oral leukoplakia	HP:0040281	ORPHA:1775
55651	NHP2	HP:0002745	Oral leukoplakia	1/2	OMIM:613987
55651	NHP2	HP:0002024	Malabsorption	HP:0040282	ORPHA:1775
55651	NHP2	HP:0002043	Esophageal stricture	-	OMIM:224230
55651	NHP2	HP:0010450	Esophageal stenosis	HP:0040282	ORPHA:1775
55651	NHP2	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:1775
55651	NHP2	HP:0002165	Nail pterygium	-	OMIM:224230
55651	NHP2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:1775
55651	NHP2	HP:0002216	Premature graying of hair	HP:0040283	ORPHA:1775
55651	NHP2	HP:0002209	Sparse scalp hair	-	OMIM:224230
55651	NHP2	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1775
55651	NHP2	HP:0002206	Pulmonary fibrosis	-	OMIM:224230
55651	NHP2	HP:0008404	Nail dystrophy	2/2	OMIM:613987
55651	NHP2	HP:0008404	Nail dystrophy	3/3	OMIM:224230
55651	NHP2	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:1775
55651	NHP2	HP:0010624	Aplastic/hypoplastic toenail	HP:0040282	ORPHA:1775
55651	NHP2	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:1775
55651	NHP2	HP:0001059	Pterygium	-	OMIM:224230
55651	NHP2	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:1775
55651	NHP2	HP:0200037	Skin vesicle	HP:0040283	ORPHA:1775
55651	NHP2	HP:0100670	Coarse metaphyseal trabecularization	HP:0040282	ORPHA:1775
55651	NHP2	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:1775
55651	NHP2	HP:0200042	Skin ulcer	HP:0040282	ORPHA:1775
55651	NHP2	HP:0003621	Juvenile onset	2/2	OMIM:613987
55651	NHP2	HP:0005528	Bone marrow hypocellularity	1/3	OMIM:224230
55651	NHP2	HP:0005528	Bone marrow hypocellularity	1/1	OMIM:613987
55651	NHP2	HP:0005528	Bone marrow hypocellularity	HP:0040282	ORPHA:1775
55651	NHP2	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:1775
55651	NHP2	HP:0000600	Abnormality of the pharynx	HP:0040282	ORPHA:1775
55651	NHP2	HP:0001903	Anemia	HP:0040281	ORPHA:1775
55651	NHP2	HP:0001915	Aplastic anemia	1/3	OMIM:224230
55651	NHP2	HP:0011364	White hair	HP:0040283	ORPHA:1775
55651	NHP2	HP:0000679	Taurodontia	HP:0040282	ORPHA:1775
55651	NHP2	HP:0000691	Microdontia	-	OMIM:224230
55651	NHP2	HP:0000653	Sparse eyelashes	-	OMIM:224230
55651	NHP2	HP:0000670	Carious teeth	-	OMIM:224230
55651	NHP2	HP:0000670	Carious teeth	HP:0040282	ORPHA:1775
55651	NHP2	HP:0000668	Hypodontia	HP:0040282	ORPHA:1775
55651	NHP2	HP:0004322	Short stature	HP:0040282	ORPHA:1775
55651	NHP2	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:1775
55651	NHP2	HP:0012733	Macule	HP:0040281	ORPHA:1775
55651	NHP2	HP:0000704	Periodontitis	HP:0040282	ORPHA:1775
55651	NHP2	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1775
55651	NHP2	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1775
55651	NHP2	HP:0000972	Palmoplantar hyperkeratosis	3/3	OMIM:224230
55651	NHP2	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:1775
55651	NHP2	HP:0000953	Hyperpigmentation of the skin	-	OMIM:224230
55651	NHP2	HP:0000939	Osteoporosis	-	OMIM:224230
55651	NHP2	HP:0000939	Osteoporosis	HP:0040283	ORPHA:1775
55651	NHP2	HP:0008070	Sparse hair	HP:0040282	ORPHA:1775
55651	NHP2	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1775
55651	NHP2	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:1775
55651	NHP2	HP:0001596	Alopecia	HP:0040283	ORPHA:1775
55651	NHP2	HP:0000252	Microcephaly	-	OMIM:224230
55651	NHP2	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:1775
55651	NHP2	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1775
55651	NHP2	HP:0001510	Growth delay	1/2	OMIM:613987
55651	NHP2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1775
55651	NHP2	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:1775
55651	NHP2	HP:0000499	Abnormal eyelash morphology	HP:0040283	ORPHA:1775
55651	NHP2	HP:0000498	Blepharitis	HP:0040283	ORPHA:1775
55651	NHP2	HP:0005374	Cellular immunodeficiency	HP:0040282	ORPHA:1775
55651	NHP2	HP:0001792	Small nail	-	OMIM:224230
55651	NHP2	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1775
55651	NHP2	HP:0000518	Cataract	HP:0040283	ORPHA:1775
55651	NHP2	HP:0005390	Recurrent opportunistic infections	1/2	OMIM:613987
55651	NHP2	HP:0000579	Nasolacrimal duct obstruction	-	OMIM:224230
55651	NHP2	HP:0000534	Abnormal eyebrow morphology	HP:0040283	ORPHA:1775
55651	NHP2	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:1775
55651	NHP2	HP:0001873	Thrombocytopenia	-	OMIM:224230
55651	NHP2	HP:0001873	Thrombocytopenia	1/2	OMIM:613987
55651	NHP2	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:1775
55651	NHP2	HP:0001876	Pancytopenia	1/2	OMIM:613987
55651	NHP2	HP:0001876	Pancytopenia	1/3	OMIM:224230
55654	TMEM127	HP:0008629	Pulsatile tinnitus	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0025269	Panic attack	HP:0040283	ORPHA:29072
55654	TMEM127	HP:0001293	Cranial nerve compression	HP:0040283	ORPHA:29072
55654	TMEM127	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0000096	Glomerular sclerosis	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0000093	Proteinuria	-	OMIM:171300
55654	TMEM127	HP:0000093	Proteinuria	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0002664	Neoplasm	-	OMIM:171300
55654	TMEM127	HP:0001342	Cerebral hemorrhage	-	OMIM:171300
55654	TMEM127	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0002668	Paraganglioma	HP:0040281	ORPHA:29072
55654	TMEM127	HP:0001337	Tremor	HP:0040283	ORPHA:29072
55654	TMEM127	HP:0000006	Autosomal dominant inheritance	-	OMIM:171300
55654	TMEM127	HP:0002666	Pheochromocytoma	-	OMIM:171300
55654	TMEM127	HP:0002640	Hypertension associated with pheochromocytoma	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0031284	Flushing	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0002018	Nausea	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0003345	Elevated urinary norepinephrine level	-	OMIM:171300
55654	TMEM127	HP:0003345	Elevated urinary norepinephrine level	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0011703	Sinus tachycardia	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0010532	Paroxysmal vertigo	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0003574	Positive regitine blocking test	-	OMIM:171300
55654	TMEM127	HP:0003574	Positive regitine blocking test	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0003528	Elevated circulating calcitonin concentration	HP:0040283	ORPHA:29072
55654	TMEM127	HP:0009711	Retinal capillary hemangioma	HP:0040283	ORPHA:29072
55654	TMEM127	HP:0100749	Chest pain	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0011979	Elevated urinary dopamine level	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0001069	Episodic hyperhidrosis	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0001028	Hemangioma	-	OMIM:171300
55654	TMEM127	HP:0002331	Recurrent paroxysmal headache	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0001095	Hypertensive retinopathy	-	OMIM:171300
55654	TMEM127	HP:0001095	Hypertensive retinopathy	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0003639	Elevated urinary epinephrine level	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:29072
55654	TMEM127	HP:0001962	Palpitations	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0001920	Renal artery stenosis	-	OMIM:171300
55654	TMEM127	HP:0003072	Hypercalcemia	-	OMIM:171300
55654	TMEM127	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0000740	Episodic paroxysmal anxiety	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0000790	Hematuria	HP:0040283	ORPHA:29072
55654	TMEM127	HP:0000875	Episodic hypertension	-	OMIM:171300
55654	TMEM127	HP:0000980	Pallor	HP:0040283	ORPHA:29072
55654	TMEM127	HP:0000975	Hyperhidrosis	-	OMIM:171300
55654	TMEM127	HP:0000957	Cafe-au-lait spot	-	OMIM:171300
55654	TMEM127	HP:0012222	Arachnoid hemangiomatosis	HP:0040283	ORPHA:29072
55654	TMEM127	HP:0002864	Paraganglioma of head and neck	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0012378	Fatigue	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0001605	Vocal cord paralysis	HP:0040283	ORPHA:29072
55654	TMEM127	HP:0001618	Dysphonia	HP:0040282	ORPHA:29072
55654	TMEM127	HP:0001649	Tachycardia	-	OMIM:171300
55654	TMEM127	HP:0001635	Congestive heart failure	-	OMIM:171300
55654	TMEM127	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:29072
55654	TMEM127	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:29072
55654	TMEM127	HP:0006748	Adrenal pheochromocytoma	HP:0040281	ORPHA:29072
55654	TMEM127	HP:0006737	Extraadrenal pheochromocytoma	HP:0040281	ORPHA:29072
55654	TMEM127	HP:0000519	Developmental cataract	-	OMIM:171300
55654	TMEM127	HP:0000526	Aniridia	HP:0040284	ORPHA:29072
55654	TMEM127	HP:0001824	Weight loss	HP:0040282	ORPHA:29072
55655	NLRP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620332
55655	NLRP2	HP:0008222	Female infertility	5/5	OMIM:620332
55655	NLRP2	HP:0011462	Young adult onset	5/5	OMIM:620332
55656	INTS8	HP:0001250	Seizure	3/3	OMIM:618572
55656	INTS8	HP:0001263	Global developmental delay	3/3	OMIM:618572
55656	INTS8	HP:0001258	Spastic paraplegia	3/3	OMIM:618572
55656	INTS8	HP:0032388	Periventricular nodular heterotopia	3/3	OMIM:618572
55656	INTS8	HP:0002540	Inability to walk	3/3	OMIM:618572
55656	INTS8	HP:0001344	Absent speech	3/3	OMIM:618572
55656	INTS8	HP:0000007	Autosomal recessive inheritance	-	OMIM:618572
55656	INTS8	HP:0001321	Cerebellar hypoplasia	3/3	OMIM:618572
55656	INTS8	HP:0002057	Prominent glabella	3/3	OMIM:618572
55656	INTS8	HP:0000648	Optic atrophy	2/3	OMIM:618572
55656	INTS8	HP:0004322	Short stature	2/2	OMIM:618572
55656	INTS8	HP:0000252	Microcephaly	3/3	OMIM:618572
55656	INTS8	HP:0000316	Hypertelorism	2/3	OMIM:618572
55656	INTS8	HP:0001845	Overlapping toe	3/3	OMIM:618572
55670	PEX26	HP:0001133	Constriction of peripheral visual field	HP:0040281	ORPHA:772
55670	PEX26	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:912
55670	PEX26	HP:0001250	Seizure	HP:0040283	ORPHA:772
55670	PEX26	HP:0001250	Seizure	HP:0040281	ORPHA:44
55670	PEX26	HP:0001250	Seizure	-	OMIM:614872
55670	PEX26	HP:0001250	Seizure	HP:0040282	ORPHA:912
55670	PEX26	HP:0001252	Hypotonia	HP:0040282	ORPHA:772
55670	PEX26	HP:0001252	Hypotonia	HP:0040281	ORPHA:44
55670	PEX26	HP:0001251	Ataxia	HP:0040282	ORPHA:772
55670	PEX26	HP:0001263	Global developmental delay	HP:0040281	ORPHA:772
55670	PEX26	HP:0001263	Global developmental delay	-	OMIM:614873
55670	PEX26	HP:0001257	Spasticity	HP:0040282	ORPHA:772
55670	PEX26	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:912
55670	PEX26	HP:0001399	Hepatic failure	HP:0040281	ORPHA:912
55670	PEX26	HP:0001392	Abnormality of the liver	HP:0040281	ORPHA:44
55670	PEX26	HP:0000047	Hypospadias	HP:0040282	ORPHA:912
55670	PEX26	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:44
55670	PEX26	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:912
55670	PEX26	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:912
55670	PEX26	HP:0000007	Autosomal recessive inheritance	-	OMIM:614873
55670	PEX26	HP:0000007	Autosomal recessive inheritance	-	OMIM:614872
55670	PEX26	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:912
55670	PEX26	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:912
55670	PEX26	HP:0001319	Neonatal hypotonia	-	OMIM:614873
55670	PEX26	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:912
55670	PEX26	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:912
55670	PEX26	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:44
55670	PEX26	HP:0008935	Generalized neonatal hypotonia	-	OMIM:614872
55670	PEX26	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:44
55670	PEX26	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:912
55670	PEX26	HP:0001410	Decreased liver function	-	OMIM:614873
55670	PEX26	HP:0002024	Malabsorption	HP:0040282	ORPHA:912
55670	PEX26	HP:0002021	Pyloric stenosis	HP:0040282	ORPHA:912
55670	PEX26	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:772
55670	PEX26	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:912
55670	PEX26	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:912
55670	PEX26	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:772
55670	PEX26	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:772
55670	PEX26	HP:0008167	Very long chain fatty acid accumulation	HP:0040281	ORPHA:912
55670	PEX26	HP:0002126	Polymicrogyria	1/1	OMIM:614872
55670	PEX26	HP:0002126	Polymicrogyria	HP:0040282	ORPHA:912
55670	PEX26	HP:0010571	Elevated circulating phytanic acid concentration	HP:0040281	ORPHA:772
55670	PEX26	HP:0008207	Primary adrenal insufficiency	HP:0040281	ORPHA:44
55670	PEX26	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:912
55670	PEX26	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:44
55670	PEX26	HP:0003577	Congenital onset	1/1	OMIM:614872
55670	PEX26	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:772
55670	PEX26	HP:0002240	Hepatomegaly	-	OMIM:614872
55670	PEX26	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:912
55670	PEX26	HP:0010655	Epiphyseal stippling	-	OMIM:614872
55670	PEX26	HP:0010655	Epiphyseal stippling	HP:0040281	ORPHA:912
55670	PEX26	HP:0011968	Feeding difficulties	-	OMIM:614872
55670	PEX26	HP:0010628	Facial palsy	HP:0040283	ORPHA:772
55670	PEX26	HP:0002376	Developmental regression	HP:0040281	ORPHA:44
55670	PEX26	HP:0002353	EEG abnormality	HP:0040281	ORPHA:44
55670	PEX26	HP:0002353	EEG abnormality	HP:0040281	ORPHA:912
55670	PEX26	HP:0001088	Brushfield spots	HP:0040283	ORPHA:912
55670	PEX26	HP:0006829	Severe muscular hypotonia	1/1	OMIM:614872
55670	PEX26	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:912
55670	PEX26	HP:0000639	Nystagmus	HP:0040282	ORPHA:772
55670	PEX26	HP:0000639	Nystagmus	HP:0040281	ORPHA:44
55670	PEX26	HP:0000639	Nystagmus	1/1	OMIM:614872
55670	PEX26	HP:0000639	Nystagmus	HP:0040282	ORPHA:912
55670	PEX26	HP:0000648	Optic atrophy	HP:0040283	ORPHA:772
55670	PEX26	HP:0000648	Optic atrophy	HP:0040281	ORPHA:44
55670	PEX26	HP:0000648	Optic atrophy	HP:0040282	ORPHA:912
55670	PEX26	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:912
55670	PEX26	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:912
55670	PEX26	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:44
55670	PEX26	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:44
55670	PEX26	HP:0000662	Nyctalopia	HP:0040281	ORPHA:772
55670	PEX26	HP:0004322	Short stature	HP:0040281	ORPHA:772
55670	PEX26	HP:0004322	Short stature	HP:0040281	ORPHA:44
55670	PEX26	HP:0004322	Short stature	HP:0040281	ORPHA:912
55670	PEX26	HP:0012736	Profound global developmental delay	HP:0040281	ORPHA:912
55670	PEX26	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:44
55670	PEX26	HP:0000708	Atypical behavior	HP:0040282	ORPHA:772
55670	PEX26	HP:0034298	Elevated circulating hexacosanoic acid concentration	1/1	OMIM:614872
55670	PEX26	HP:0034297	Elevated circulating tetracosanoic acid concentration	1/1	OMIM:614872
55670	PEX26	HP:0004491	Large posterior fontanelle	1/1	OMIM:614872
55670	PEX26	HP:0000952	Jaundice	1/1	OMIM:614872
55670	PEX26	HP:0000952	Jaundice	HP:0040281	ORPHA:912
55670	PEX26	HP:0008064	Ichthyosis	HP:0040283	ORPHA:772
55670	PEX26	HP:0011675	Arrhythmia	HP:0040283	ORPHA:772
55670	PEX26	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:44
55670	PEX26	HP:0000286	Epicanthus	HP:0040281	ORPHA:912
55670	PEX26	HP:0000260	Wide anterior fontanel	1/1	OMIM:614872
55670	PEX26	HP:0000260	Wide anterior fontanel	HP:0040282	ORPHA:44
55670	PEX26	HP:0000260	Wide anterior fontanel	HP:0040281	ORPHA:912
55670	PEX26	HP:0000256	Macrocephaly	HP:0040282	ORPHA:44
55670	PEX26	HP:0000256	Macrocephaly	HP:0040282	ORPHA:912
55670	PEX26	HP:0000271	Abnormality of the face	HP:0040283	ORPHA:772
55670	PEX26	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:44
55670	PEX26	HP:0000252	Microcephaly	HP:0040282	ORPHA:912
55670	PEX26	HP:0000218	High palate	1/1	OMIM:614872
55670	PEX26	HP:0000218	High palate	HP:0040282	ORPHA:912
55670	PEX26	HP:0001522	Death in infancy	4/4	OMIM:614872
55670	PEX26	HP:0001522	Death in infancy	HP:0040281	ORPHA:912
55670	PEX26	HP:0001508	Failure to thrive	HP:0040281	ORPHA:772
55670	PEX26	HP:0001508	Failure to thrive	HP:0040281	ORPHA:912
55670	PEX26	HP:0012368	Flat face	1/1	OMIM:614872
55670	PEX26	HP:0012368	Flat face	HP:0040281	ORPHA:912
55670	PEX26	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:912
55670	PEX26	HP:0000365	Hearing impairment	HP:0040282	ORPHA:772
55670	PEX26	HP:0000358	Posteriorly rotated ears	1/1	OMIM:614872
55670	PEX26	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:44
55670	PEX26	HP:0000369	Low-set ears	1/1	OMIM:614872
55670	PEX26	HP:0000343	Long philtrum	1/1	OMIM:614872
55670	PEX26	HP:0000348	High forehead	1/1	OMIM:614872
55670	PEX26	HP:0000348	High forehead	HP:0040281	ORPHA:44
55670	PEX26	HP:0000348	High forehead	HP:0040281	ORPHA:912
55670	PEX26	HP:0000347	Micrognathia	HP:0040282	ORPHA:912
55670	PEX26	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:912
55670	PEX26	HP:0001622	Premature birth	HP:0040282	ORPHA:912
55670	PEX26	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:772
55670	PEX26	HP:0007957	Corneal opacity	HP:0040281	ORPHA:912
55670	PEX26	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:772
55670	PEX26	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:44
55670	PEX26	HP:0000407	Sensorineural hearing impairment	-	OMIM:614873
55670	PEX26	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:912
55670	PEX26	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:912
55670	PEX26	HP:0000486	Strabismus	HP:0040281	ORPHA:44
55670	PEX26	HP:0000463	Anteverted nares	HP:0040281	ORPHA:44
55670	PEX26	HP:0000474	Thickened nuchal skin fold	HP:0040283	ORPHA:912
55670	PEX26	HP:0001762	Talipes equinovarus	1/1	OMIM:614872
55670	PEX26	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:44
55670	PEX26	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:912
55670	PEX26	HP:0005469	Flat occiput	1/1	OMIM:614872
55670	PEX26	HP:0005469	Flat occiput	HP:0040282	ORPHA:912
55670	PEX26	HP:0000518	Cataract	HP:0040283	ORPHA:772
55670	PEX26	HP:0000518	Cataract	1/1	OMIM:614872
55670	PEX26	HP:0000518	Cataract	HP:0040282	ORPHA:44
55670	PEX26	HP:0000518	Cataract	HP:0040282	ORPHA:912
55670	PEX26	HP:0000510	Rod-cone dystrophy	HP:0040281	ORPHA:772
55670	PEX26	HP:0000508	Ptosis	HP:0040282	ORPHA:44
55670	PEX26	HP:0000505	Visual impairment	HP:0040281	ORPHA:772
55670	PEX26	HP:0000505	Visual impairment	-	OMIM:614873
55670	PEX26	HP:0000505	Visual impairment	HP:0040282	ORPHA:44
55670	PEX26	HP:0000505	Visual impairment	HP:0040282	ORPHA:912
55670	PEX26	HP:0000501	Glaucoma	HP:0040283	ORPHA:912
55670	PEX26	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:912
55670	PEX26	HP:0000556	Retinal dystrophy	-	OMIM:614873
55670	PEX26	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:912
55679	LIMS2	HP:0001324	Muscle weakness	-	OMIM:616827
55679	LIMS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616827
55679	LIMS2	HP:0000158	Macroglossia	-	OMIM:616827
55679	LIMS2	HP:0008981	Calf muscle hypertrophy	-	OMIM:616827
55679	LIMS2	HP:0002273	Tetraparesis	-	OMIM:616827
55679	LIMS2	HP:0003560	Muscular dystrophy	-	OMIM:616827
55679	LIMS2	HP:0003676	Progressive	-	OMIM:616827
55679	LIMS2	HP:0009025	Increased connective tissue	-	OMIM:616827
55679	LIMS2	HP:0011463	Childhood onset	-	OMIM:616827
55679	LIMS2	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:616827
55679	LIMS2	HP:0003202	Skeletal muscle atrophy	-	OMIM:616827
55679	LIMS2	HP:0001644	Dilated cardiomyopathy	-	OMIM:616827
55679	LIMS2	HP:0006673	Reduced systolic function	-	OMIM:616827
55679	LIMS2	HP:0030284	Triangular tongue	-	OMIM:616827
55679	LIMS2	HP:0001762	Talipes equinovarus	-	OMIM:616827
55681	SCYL2	HP:0001188	Hand clenching	6/6	OMIM:618766
55681	SCYL2	HP:0001274	Agenesis of corpus callosum	6/6	OMIM:618766
55681	SCYL2	HP:0001284	Areflexia	6/6	OMIM:618766
55681	SCYL2	HP:0001284	Areflexia	HP:0040282	ORPHA:1143
55681	SCYL2	HP:0001250	Seizure	4/4	OMIM:618766
55681	SCYL2	HP:0001263	Global developmental delay	6/6	OMIM:618766
55681	SCYL2	HP:0001257	Spasticity	6/6	OMIM:618766
55681	SCYL2	HP:0001239	Wrist flexion contracture	HP:0040282	ORPHA:1143
55681	SCYL2	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:1143
55681	SCYL2	HP:0003819	Death in childhood	1/6	OMIM:618766
55681	SCYL2	HP:0008807	Acetabular dysplasia	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0001371	Flexion contracture	HP:0040280	ORPHA:1143
55681	SCYL2	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0000028	Cryptorchidism	3/3	OMIM:618766
55681	SCYL2	HP:0008872	Feeding difficulties in infancy	6/6	OMIM:618766
55681	SCYL2	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618766
55681	SCYL2	HP:0002650	Scoliosis	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0000160	Narrow mouth	6/6	OMIM:618766
55681	SCYL2	HP:0012104	Parietal cortical atrophy	3/5	OMIM:618766
55681	SCYL2	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0002098	Respiratory distress	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0002058	Myopathic facies	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0008110	Equinovarus deformity	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:1143
55681	SCYL2	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:1143
55681	SCYL2	HP:0003444	EMG: chronic denervation signs	HP:0040281	ORPHA:1143
55681	SCYL2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0002380	Fasciculations	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0010781	Skin dimple	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0000648	Optic atrophy	4/4	OMIM:618766
55681	SCYL2	HP:0006913	Frontal cortical atrophy	3/5	OMIM:618766
55681	SCYL2	HP:0030799	Scaphocephaly	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:1143
55681	SCYL2	HP:0003273	Hip contracture	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0006466	Ankle flexion contracture	HP:0040282	ORPHA:1143
55681	SCYL2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0002804	Arthrogryposis multiplex congenita	6/6	OMIM:618766
55681	SCYL2	HP:0006380	Knee flexion contracture	HP:0040282	ORPHA:1143
55681	SCYL2	HP:0000252	Microcephaly	4/5	OMIM:618766
55681	SCYL2	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0001561	Polyhydramnios	6/6	OMIM:618766
55681	SCYL2	HP:0000233	Thin vermilion border	6/6	OMIM:618766
55681	SCYL2	HP:0001558	Decreased fetal movement	6/6	OMIM:618766
55681	SCYL2	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0001522	Death in infancy	3/6	OMIM:618766
55681	SCYL2	HP:0000369	Low-set ears	6/6	OMIM:618766
55681	SCYL2	HP:0000347	Micrognathia	6/6	OMIM:618766
55681	SCYL2	HP:0000347	Micrognathia	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:1143
55681	SCYL2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0001623	Breech presentation	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0005280	Depressed nasal bridge	6/6	OMIM:618766
55681	SCYL2	HP:0000470	Short neck	5/6	OMIM:618766
55681	SCYL2	HP:0000414	Bulbous nose	6/6	OMIM:618766
55681	SCYL2	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:1143
55681	SCYL2	HP:0001838	Rocker bottom foot	6/6	OMIM:618766
55681	SCYL2	HP:0011220	Prominent forehead	6/6	OMIM:618766
55687	TRMU	HP:0001290	Generalized hypotonia	-	OMIM:613070
55687	TRMU	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:254864
55687	TRMU	HP:0001252	Hypotonia	-	OMIM:613070
55687	TRMU	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:254864
55687	TRMU	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:254864
55687	TRMU	HP:0008872	Feeding difficulties in infancy	13/13	OMIM:613070
55687	TRMU	HP:0001324	Muscle weakness	HP:0040281	ORPHA:254864
55687	TRMU	HP:0000007	Autosomal recessive inheritance	-	OMIM:613070
55687	TRMU	HP:0000158	Macroglossia	HP:0040283	ORPHA:254864
55687	TRMU	HP:0001427	Mitochondrial inheritance	-	OMIM:580000
55687	TRMU	HP:0001403	Macrovesicular hepatic steatosis	2/2	OMIM:613070
55687	TRMU	HP:0001414	Microvesicular hepatic steatosis	-	OMIM:613070
55687	TRMU	HP:0002033	Poor suck	HP:0040283	ORPHA:254864
55687	TRMU	HP:0002013	Vomiting	13/13	OMIM:613070
55687	TRMU	HP:0005946	Ventilator dependence with inability to wean	HP:0040283	ORPHA:254864
55687	TRMU	HP:0002098	Respiratory distress	HP:0040282	ORPHA:254864
55687	TRMU	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:254864
55687	TRMU	HP:0008160	3-hydroxydicarboxylic aciduria	13/13	OMIM:613070
55687	TRMU	HP:0008151	Prolonged prothrombin time	8/8	OMIM:613070
55687	TRMU	HP:0002151	Increased circulating lactate concentration	12/12	OMIM:613070
55687	TRMU	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040282	ORPHA:254864
55687	TRMU	HP:0002194	Delayed gross motor development	HP:0040284	ORPHA:254864
55687	TRMU	HP:0003593	Infantile onset	10/13	OMIM:613070
55687	TRMU	HP:0002240	Hepatomegaly	13/13	OMIM:613070
55687	TRMU	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:254864
55687	TRMU	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040283	ORPHA:254864
55687	TRMU	HP:0200125	Mitochondrial respiratory chain defects	2/2	OMIM:613070
55687	TRMU	HP:0011975	Aminoglycoside-induced hearing loss	-	OMIM:580000
55687	TRMU	HP:0003688	Cytochrome C oxidase-negative muscle fibers	HP:0040281	ORPHA:254864
55687	TRMU	HP:0003648	Lacticaciduria	13/13	OMIM:613070
55687	TRMU	HP:0003623	Neonatal onset	3/13	OMIM:613070
55687	TRMU	HP:0004900	Severe lactic acidosis	HP:0040282	ORPHA:254864
55687	TRMU	HP:0009051	Increased muscle glycogen content	HP:0040281	ORPHA:254864
55687	TRMU	HP:0009058	Increased muscle lipid content	HP:0040281	ORPHA:254864
55687	TRMU	HP:0004315	Decreased circulating IgG concentration	5/7	OMIM:613070
55687	TRMU	HP:0031964	Elevated circulating alanine aminotransferase concentration	12/12	OMIM:613070
55687	TRMU	HP:0003073	Hypoalbuminemia	13/13	OMIM:613070
55687	TRMU	HP:0000737	Irritability	13/13	OMIM:613070
55687	TRMU	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:254864
55687	TRMU	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:254864
55687	TRMU	HP:0003198	Myopathy	HP:0040281	ORPHA:254864
55687	TRMU	HP:0003128	Lactic acidosis	-	OMIM:613070
55687	TRMU	HP:0003234	Decreased circulating carnitine concentration	HP:0040283	ORPHA:254864
55687	TRMU	HP:0003215	Dicarboxylic aciduria	13/13	OMIM:613070
55687	TRMU	HP:0003200	Ragged-red muscle fibers	HP:0040281	ORPHA:254864
55687	TRMU	HP:0003270	Abdominal distention	13/13	OMIM:613070
55687	TRMU	HP:0000952	Jaundice	13/13	OMIM:613070
55687	TRMU	HP:0000218	High palate	HP:0040283	ORPHA:254864
55687	TRMU	HP:0001522	Death in infancy	4/13	OMIM:613070
55687	TRMU	HP:0006554	Acute hepatic failure	13/13	OMIM:613070
55687	TRMU	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:613070
55687	TRMU	HP:0002904	Hyperbilirubinemia	10/11	OMIM:613070
55687	TRMU	HP:0001626	Abnormality of the cardiovascular system	HP:0040283	ORPHA:254864
55689	YEATS2	HP:0001250	Seizure	7/13	OMIM:615127
55689	YEATS2	HP:0001249	Intellectual disability	0/13	OMIM:615127
55689	YEATS2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:86814
55689	YEATS2	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:86814
55689	YEATS2	HP:0001351	Jerk-locked premyoclonus spikes	2/2	OMIM:615127
55689	YEATS2	HP:0001340	Enhancement of the C-reflex	11/11	OMIM:615127
55689	YEATS2	HP:0001337	Tremor	13/13	OMIM:615127
55689	YEATS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:615127
55689	YEATS2	HP:0001336	Myoclonus	13/13	OMIM:615127
55689	YEATS2	HP:0001336	Myoclonus	HP:0040281	ORPHA:86814
55689	YEATS2	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:615127
55689	YEATS2	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:86814
55689	YEATS2	HP:0002197	Generalized-onset seizure	HP:0040282	ORPHA:86814
55689	YEATS2	HP:0002392	EEG with polyspike wave complexes	7/10	OMIM:615127
55689	YEATS2	HP:0002378	Hand tremor	HP:0040281	ORPHA:86814
55689	YEATS2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:86814
55689	YEATS2	HP:0003680	Nonprogressive	-	OMIM:615127
55689	YEATS2	HP:0002315	Headache	HP:0040283	ORPHA:86814
55689	YEATS2	HP:0003621	Juvenile onset	3/13	OMIM:615127
55689	YEATS2	HP:0011462	Young adult onset	10/13	OMIM:615127
55690	PACS1	HP:0001176	Large hands	-	OMIM:615009
55690	PACS1	HP:0001195	Single umbilical artery	-	OMIM:615009
55690	PACS1	HP:0001195	Single umbilical artery	HP:0040283	ORPHA:329224
55690	PACS1	HP:0025160	Abnormal temper tantrums	HP:0040282	ORPHA:329224
55690	PACS1	HP:0001290	Generalized hypotonia	-	OMIM:615009
55690	PACS1	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:329224
55690	PACS1	HP:0001250	Seizure	HP:0040282	ORPHA:329224
55690	PACS1	HP:0001250	Seizure	-	OMIM:615009
55690	PACS1	HP:0002580	Volvulus	-	OMIM:615009
55690	PACS1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:329224
55690	PACS1	HP:0001249	Intellectual disability	-	OMIM:615009
55690	PACS1	HP:0001260	Dysarthria	HP:0040283	ORPHA:329224
55690	PACS1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:329224
55690	PACS1	HP:0001263	Global developmental delay	-	OMIM:615009
55690	PACS1	HP:0001238	Slender finger	HP:0040283	ORPHA:329224
55690	PACS1	HP:0002553	Highly arched eyebrow	-	OMIM:615009
55690	PACS1	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:329224
55690	PACS1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:329224
55690	PACS1	HP:0000028	Cryptorchidism	-	OMIM:615009
55690	PACS1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:329224
55690	PACS1	HP:0001344	Absent speech	-	OMIM:615009
55690	PACS1	HP:0001344	Absent speech	HP:0040283	ORPHA:329224
55690	PACS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615009
55690	PACS1	HP:0002650	Scoliosis	HP:0040283	ORPHA:329224
55690	PACS1	HP:0001321	Cerebellar hypoplasia	HP:0040283	OMIM:615009
55690	PACS1	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:329224
55690	PACS1	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:329224
55690	PACS1	HP:0000154	Wide mouth	-	OMIM:615009
55690	PACS1	HP:0000154	Wide mouth	HP:0040283	ORPHA:329224
55690	PACS1	HP:0008947	Floppy infant	HP:0040282	ORPHA:329224
55690	PACS1	HP:0002714	Downturned corners of mouth	-	OMIM:615009
55690	PACS1	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:329224
55690	PACS1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:329224
55690	PACS1	HP:0002019	Constipation	-	OMIM:615009
55690	PACS1	HP:0002019	Constipation	HP:0040282	ORPHA:329224
55690	PACS1	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:329224
55690	PACS1	HP:0011968	Feeding difficulties	-	OMIM:615009
55690	PACS1	HP:0002389	Cavum septum pellucidum	HP:0040283	ORPHA:329224
55690	PACS1	HP:0002389	Cavum septum pellucidum	-	OMIM:615009
55690	PACS1	HP:0002317	Unsteady gait	HP:0040283	ORPHA:329224
55690	PACS1	HP:0010821	Focal emotional seizure with laughing	HP:0040283	ORPHA:329224
55690	PACS1	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:329224
55690	PACS1	HP:0000639	Nystagmus	-	OMIM:615009
55690	PACS1	HP:0000699	Diastema	HP:0040283	ORPHA:329224
55690	PACS1	HP:0000699	Diastema	-	OMIM:615009
55690	PACS1	HP:0011304	Broad thumb	HP:0040283	ORPHA:329224
55690	PACS1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:329224
55690	PACS1	HP:0000664	Synophrys	-	OMIM:615009
55690	PACS1	HP:0000664	Synophrys	HP:0040283	ORPHA:329224
55690	PACS1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:329224
55690	PACS1	HP:0000750	Delayed speech and language development	-	OMIM:615009
55690	PACS1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:329224
55690	PACS1	HP:0000718	Aggressive behavior	-	OMIM:615009
55690	PACS1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:329224
55690	PACS1	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:329224
55690	PACS1	HP:0000294	Low anterior hairline	-	OMIM:615009
55690	PACS1	HP:0000294	Low anterior hairline	HP:0040283	ORPHA:329224
55690	PACS1	HP:0000252	Microcephaly	HP:0040283	ORPHA:329224
55690	PACS1	HP:0012210	Abnormal renal morphology	HP:0040283	ORPHA:329224
55690	PACS1	HP:0000219	Thin upper lip vermilion	-	OMIM:615009
55690	PACS1	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:329224
55690	PACS1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:329224
55690	PACS1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:329224
55690	PACS1	HP:0011098	Speech apraxia	-	OMIM:615009
55690	PACS1	HP:0000369	Low-set ears	-	OMIM:615009
55690	PACS1	HP:0000369	Low-set ears	HP:0040282	ORPHA:329224
55690	PACS1	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	OMIM:615009
55690	PACS1	HP:0000319	Smooth philtrum	-	OMIM:615009
55690	PACS1	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:329224
55690	PACS1	HP:0001647	Bicuspid aortic valve	-	OMIM:615009
55690	PACS1	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:329224
55690	PACS1	HP:0000316	Hypertelorism	-	OMIM:615009
55690	PACS1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:329224
55690	PACS1	HP:0001643	Patent ductus arteriosus	-	OMIM:615009
55690	PACS1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:329224
55690	PACS1	HP:0001655	Patent foramen ovale	-	OMIM:615009
55690	PACS1	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:329224
55690	PACS1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:329224
55690	PACS1	HP:0002951	Partial absence of cerebellar vermis	HP:0040283	ORPHA:329224
55690	PACS1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:329224
55690	PACS1	HP:0006610	Wide intermamillary distance	-	OMIM:615009
55690	PACS1	HP:0006610	Wide intermamillary distance	HP:0040283	ORPHA:329224
55690	PACS1	HP:0000400	Macrotia	-	OMIM:615009
55690	PACS1	HP:0000400	Macrotia	HP:0040283	ORPHA:329224
55690	PACS1	HP:0000486	Strabismus	-	OMIM:615009
55690	PACS1	HP:0000494	Downslanted palpebral fissures	-	OMIM:615009
55690	PACS1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:329224
55690	PACS1	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:329224
55690	PACS1	HP:0001763	Pes planus	-	OMIM:615009
55690	PACS1	HP:0001763	Pes planus	HP:0040283	ORPHA:329224
55690	PACS1	HP:0000414	Bulbous nose	-	OMIM:615009
55690	PACS1	HP:0000414	Bulbous nose	HP:0040282	ORPHA:329224
55690	PACS1	HP:0000411	Protruding ear	HP:0040282	ORPHA:329224
55690	PACS1	HP:0005421	Decreased circulating complement C3 concentration	HP:0040283	ORPHA:329224
55690	PACS1	HP:0000527	Long eyelashes	-	OMIM:615009
55690	PACS1	HP:0000527	Long eyelashes	HP:0040282	ORPHA:329224
55690	PACS1	HP:0000508	Ptosis	-	OMIM:615009
55690	PACS1	HP:0001833	Long foot	-	OMIM:615009
55690	PACS1	HP:0000589	Coloboma	HP:0040283	ORPHA:329224
55690	PACS1	HP:0012523	Oral aversion	HP:0040282	ORPHA:329224
55690	PACS1	HP:0000545	Myopia	-	OMIM:615009
55691	FRMD4A	HP:0002465	Poor speech	HP:0040283	ORPHA:466688
55691	FRMD4A	HP:0002470	Nonprogressive cerebellar ataxia	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0001276	Hypertonia	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0001251	Ataxia	-	OMIM:616819
55691	FRMD4A	HP:0001249	Intellectual disability	-	OMIM:616819
55691	FRMD4A	HP:0001263	Global developmental delay	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0001263	Global developmental delay	-	OMIM:616819
55691	FRMD4A	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	-	OMIM:616819
55691	FRMD4A	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0002509	Limb hypertonia	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0001344	Absent speech	-	OMIM:616819
55691	FRMD4A	HP:0001344	Absent speech	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0001338	Partial agenesis of the corpus callosum	-	OMIM:616819
55691	FRMD4A	HP:0000007	Autosomal recessive inheritance	-	OMIM:616819
55691	FRMD4A	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:616819
55691	FRMD4A	HP:0001320	Cerebellar vermis hypoplasia	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0001321	Cerebellar hypoplasia	-	OMIM:616819
55691	FRMD4A	HP:0000179	Thick lower lip vermilion	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0100540	Palpebral edema	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0001007	Hirsutism	-	OMIM:616819
55691	FRMD4A	HP:0001007	Hirsutism	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0012724	Upper eyelid edema	-	OMIM:616819
55691	FRMD4A	HP:0011451	Primary microcephaly	-	OMIM:616819
55691	FRMD4A	HP:0011451	Primary microcephaly	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0008070	Sparse hair	-	OMIM:616819
55691	FRMD4A	HP:0000294	Low anterior hairline	-	OMIM:616819
55691	FRMD4A	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0000252	Microcephaly	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0000232	Everted lower lip vermilion	-	OMIM:616819
55691	FRMD4A	HP:0001510	Growth delay	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0000358	Posteriorly rotated ears	-	OMIM:616819
55691	FRMD4A	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0000369	Low-set ears	-	OMIM:616819
55691	FRMD4A	HP:0000341	Narrow forehead	-	OMIM:616819
55691	FRMD4A	HP:0000341	Narrow forehead	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0000486	Strabismus	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0000486	Strabismus	-	OMIM:616819
55691	FRMD4A	HP:0000463	Anteverted nares	-	OMIM:616819
55691	FRMD4A	HP:0000463	Anteverted nares	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0000411	Protruding ear	-	OMIM:616819
55691	FRMD4A	HP:0000527	Long eyelashes	-	OMIM:616819
55691	FRMD4A	HP:0000527	Long eyelashes	HP:0040282	ORPHA:466688
55691	FRMD4A	HP:0000574	Thick eyebrow	-	OMIM:616819
55691	FRMD4A	HP:0000574	Thick eyebrow	HP:0040282	ORPHA:466688
55697	VAC14	HP:0001182	Tapered finger	HP:0040282	ORPHA:3472
55697	VAC14	HP:0001167	Abnormal finger morphology	HP:0040282	ORPHA:3472
55697	VAC14	HP:0001159	Syndactyly	HP:0040282	ORPHA:3472
55697	VAC14	HP:0003781	Excessive salivation	1/2	OMIM:617054
55697	VAC14	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:3472
55697	VAC14	HP:0009881	Aplasia of the distal phalanges of the hand	HP:0040281	ORPHA:3472
55697	VAC14	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55697	VAC14	HP:0001293	Cranial nerve compression	-	OMIM:131300
55697	VAC14	HP:0100817	Renovascular hypertension	HP:0040283	ORPHA:3472
55697	VAC14	HP:0001276	Hypertonia	2/2	OMIM:617054
55697	VAC14	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:3472
55697	VAC14	HP:0001252	Hypotonia	1/2	OMIM:617054
55697	VAC14	HP:0001252	Hypotonia	2/7	OMIM:615777
55697	VAC14	HP:0001249	Intellectual disability	5/7	OMIM:615777
55697	VAC14	HP:0001263	Global developmental delay	HP:0040282	ORPHA:3472
55697	VAC14	HP:0001263	Global developmental delay	-	OMIM:615777
55697	VAC14	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:3472
55697	VAC14	HP:0008665	Clitoral hypertrophy	HP:0040283	ORPHA:3472
55697	VAC14	HP:0002515	Waddling gait	54/102	OMIM:131300
55697	VAC14	HP:0002529	Neuronal loss in central nervous system	HP:0040282	ORPHA:3472
55697	VAC14	HP:0002505	Loss of ambulation	2/2	OMIM:617054
55697	VAC14	HP:0000059	Hypoplastic labia majora	HP:0040283	ORPHA:3472
55697	VAC14	HP:0000054	Micropenis	HP:0040282	ORPHA:3472
55697	VAC14	HP:0001382	Joint hypermobility	-	OMIM:615777
55697	VAC14	HP:0000047	Hypospadias	HP:0040282	ORPHA:3472
55697	VAC14	HP:0001347	Hyperreflexia	-	OMIM:617054
55697	VAC14	HP:0002696	Abnormal parietal bone morphology	HP:0040282	ORPHA:3472
55697	VAC14	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55697	VAC14	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:3472
55697	VAC14	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:3472
55697	VAC14	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55697	VAC14	HP:0001332	Dystonia	2/2	OMIM:617054
55697	VAC14	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55697	VAC14	HP:0001324	Muscle weakness	40/96	OMIM:131300
55697	VAC14	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55697	VAC14	HP:0000007	Autosomal recessive inheritance	-	OMIM:617054
55697	VAC14	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55697	VAC14	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55697	VAC14	HP:0001302	Pachygyria	HP:0040282	ORPHA:3472
55697	VAC14	HP:0002650	Scoliosis	12/14	OMIM:131300
55697	VAC14	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:3472
55697	VAC14	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55697	VAC14	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55697	VAC14	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55697	VAC14	HP:0000188	Short upper lip	HP:0040282	ORPHA:3472
55697	VAC14	HP:0012179	Craniofacial dystonia	-	OMIM:617054
55697	VAC14	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55697	VAC14	HP:0000162	Glossoptosis	HP:0040283	ORPHA:3472
55697	VAC14	HP:0000175	Cleft palate	2/7	OMIM:615777
55697	VAC14	HP:0006323	Premature loss of primary teeth	HP:0040282	ORPHA:3472
55697	VAC14	HP:0007633	Bilateral microphthalmos	HP:0040282	ORPHA:3472
55697	VAC14	HP:0008935	Generalized neonatal hypotonia	HP:0040282	ORPHA:3472
55697	VAC14	HP:0002705	High, narrow palate	HP:0040282	ORPHA:3472
55697	VAC14	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:3472
55697	VAC14	HP:0005989	Redundant neck skin	HP:0040282	ORPHA:3472
55697	VAC14	HP:0002015	Dysphagia	-	OMIM:617054
55697	VAC14	HP:0002092	Pulmonary arterial hypertension	HP:0040282	ORPHA:3472
55697	VAC14	HP:0003376	Steppage gait	1/2	OMIM:617054
55697	VAC14	HP:0003388	Easy fatigability	36/76	OMIM:131300
55697	VAC14	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55697	VAC14	HP:0002139	Arrhinencephaly	HP:0040282	ORPHA:3472
55697	VAC14	HP:0010537	Wide cranial sutures	HP:0040282	ORPHA:3472
55697	VAC14	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:3472
55697	VAC14	HP:0003510	Severe short stature	7/7	OMIM:615777
55697	VAC14	HP:0008386	Aplasia/Hypoplasia of the nails	HP:0040282	ORPHA:3472
55697	VAC14	HP:0002376	Developmental regression	-	OMIM:617054
55697	VAC14	HP:0003676	Progressive	-	OMIM:617054
55697	VAC14	HP:0002317	Unsteady gait	2/2	OMIM:617054
55697	VAC14	HP:0002315	Headache	-	OMIM:131300
55697	VAC14	HP:0004976	Knee dislocation	6/7	OMIM:615777
55697	VAC14	HP:0004993	Slender long bones with narrow diaphyses	HP:0040283	ORPHA:3472
55697	VAC14	HP:0009803	Short phalanx of finger	-	OMIM:615777
55697	VAC14	HP:0009777	Absent thumb	HP:0040282	ORPHA:3472
55697	VAC14	HP:0009763	Limb pain	63/92	OMIM:131300
55697	VAC14	HP:0002307	Drooling	1/2	OMIM:617054
55697	VAC14	HP:0003621	Juvenile onset	-	OMIM:131300
55697	VAC14	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55697	VAC14	HP:0010067	Aplasia/hypoplasia of the 1st metatarsal	HP:0040282	ORPHA:3472
55697	VAC14	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55697	VAC14	HP:6001056	Out-toeing	-	OMIM:131300
55697	VAC14	HP:0000651	Diplopia	-	OMIM:131300
55697	VAC14	HP:0000647	Sclerocornea	HP:0040282	ORPHA:3472
55697	VAC14	HP:0001956	Truncal obesity	2/7	OMIM:615777
55697	VAC14	HP:0001920	Renal artery stenosis	HP:0040283	ORPHA:3472
55697	VAC14	HP:0001903	Anemia	HP:0040283	OMIM:131300
55697	VAC14	HP:0010049	Short metacarpal	-	OMIM:615777
55697	VAC14	HP:0010035	Aplasia of the 1st metacarpal	HP:0040282	ORPHA:3472
55697	VAC14	HP:0000678	Dental crowding	-	OMIM:615777
55697	VAC14	HP:0000653	Sparse eyelashes	HP:0040282	ORPHA:3472
55697	VAC14	HP:0000670	Carious teeth	-	OMIM:131300
55697	VAC14	HP:0011304	Broad thumb	2/7	OMIM:615777
55697	VAC14	HP:0000668	Hypodontia	-	OMIM:615777
55697	VAC14	HP:0000664	Synophrys	-	OMIM:615777
55697	VAC14	HP:0004322	Short stature	HP:0040282	ORPHA:3472
55697	VAC14	HP:0004331	Decreased skull ossification	HP:0040282	ORPHA:3472
55697	VAC14	HP:0004396	Poor appetite	-	OMIM:131300
55697	VAC14	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55697	VAC14	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55697	VAC14	HP:0003015	Flared metaphysis	HP:0040283	ORPHA:3472
55697	VAC14	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55697	VAC14	HP:0003026	Short long bone	7/7	OMIM:615777
55697	VAC14	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55697	VAC14	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55697	VAC14	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55697	VAC14	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55697	VAC14	HP:0000750	Delayed speech and language development	-	OMIM:617054
55697	VAC14	HP:0000750	Delayed speech and language development	-	OMIM:615777
55697	VAC14	HP:0011463	Childhood onset	2/2	OMIM:617054
55697	VAC14	HP:0011461	Fetal onset	7/7	OMIM:615777
55697	VAC14	HP:0011448	Ankle clonus	1/2	OMIM:617054
55697	VAC14	HP:0011451	Primary microcephaly	HP:0040282	ORPHA:3472
55697	VAC14	HP:0010102	Aplasia of the distal phalanx of the hallux	HP:0040281	ORPHA:3472
55697	VAC14	HP:0010107	Short proximal phalanx of hallux	HP:0040281	ORPHA:3472
55697	VAC14	HP:0000774	Narrow chest	2/7	OMIM:615777
55697	VAC14	HP:0000773	Short ribs	HP:0040283	ORPHA:3472
55697	VAC14	HP:0000926	Platyspondyly	1/7	OMIM:615777
55697	VAC14	HP:0003180	Flat acetabular roof	-	OMIM:615777
55697	VAC14	HP:0004482	Relative macrocephaly	-	OMIM:615777
55697	VAC14	HP:0005793	Shortening of all distal phalanges of the toes	HP:0040282	ORPHA:3472
55697	VAC14	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55697	VAC14	HP:0012809	Narrow nasal base	HP:0040283	ORPHA:3472
55697	VAC14	HP:0000822	Hypertension	HP:0040283	ORPHA:3472
55697	VAC14	HP:0000823	Delayed puberty	-	OMIM:131300
55697	VAC14	HP:0000894	Short clavicles	-	OMIM:615777
55697	VAC14	HP:0003236	Elevated circulating creatine kinase concentration	1/2	OMIM:617054
55697	VAC14	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55697	VAC14	HP:0030816	Gingival recession	HP:0040283	ORPHA:3472
55697	VAC14	HP:0045075	Sparse eyebrow	HP:0040282	ORPHA:3472
55697	VAC14	HP:0000954	Single transverse palmar crease	HP:0040282	ORPHA:3472
55697	VAC14	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55697	VAC14	HP:0005819	Short middle phalanx of finger	HP:0040282	ORPHA:3472
55697	VAC14	HP:0040163	Abnormal pelvis bone morphology	HP:0040282	ORPHA:3472
55697	VAC14	HP:0009381	Short finger	HP:0040282	ORPHA:3472
55697	VAC14	HP:0012294	Abnormal occipital bone morphology	HP:0040282	ORPHA:3472
55697	VAC14	HP:0000286	Epicanthus	1/7	OMIM:615777
55697	VAC14	HP:0000280	Coarse facial features	2/7	OMIM:615777
55697	VAC14	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:3472
55697	VAC14	HP:0002827	Hip dislocation	HP:0040283	ORPHA:3472
55697	VAC14	HP:0002827	Hip dislocation	3/7	OMIM:615777
55697	VAC14	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:3472
55697	VAC14	HP:0000252	Microcephaly	-	OMIM:615777
55697	VAC14	HP:0000216	Broad secondary alveolar ridge	HP:0040282	ORPHA:3472
55697	VAC14	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:3472
55697	VAC14	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:3472
55697	VAC14	HP:0001525	Severe failure to thrive	HP:0040282	ORPHA:3472
55697	VAC14	HP:0002857	Genu valgum	-	OMIM:131300
55697	VAC14	HP:0001533	Slender build	-	OMIM:131300
55697	VAC14	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55697	VAC14	HP:0007807	Optic nerve compression	-	OMIM:131300
55697	VAC14	HP:0011061	Abnormality of dental structure	HP:0040282	ORPHA:3472
55697	VAC14	HP:0012368	Flat face	7/7	OMIM:615777
55697	VAC14	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:3472
55697	VAC14	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55697	VAC14	HP:0002938	Lumbar hyperlordosis	1/2	OMIM:617054
55697	VAC14	HP:0000365	Hearing impairment	HP:0040283	ORPHA:3472
55697	VAC14	HP:0000365	Hearing impairment	10/67	OMIM:131300
55697	VAC14	HP:0000369	Low-set ears	HP:0040282	ORPHA:3472
55697	VAC14	HP:0000343	Long philtrum	1/7	OMIM:615777
55697	VAC14	HP:0011001	Increased bone mineral density	-	OMIM:131300
55697	VAC14	HP:0000348	High forehead	HP:0040282	ORPHA:3472
55697	VAC14	HP:0000347	Micrognathia	HP:0040282	ORPHA:3472
55697	VAC14	HP:0000316	Hypertelorism	HP:0040282	ORPHA:3472
55697	VAC14	HP:0000311	Round face	2/7	OMIM:615777
55697	VAC14	HP:0000331	Short chin	HP:0040282	ORPHA:3472
55697	VAC14	HP:0000322	Short philtrum	HP:0040282	ORPHA:3472
55697	VAC14	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:3472
55697	VAC14	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:3472
55697	VAC14	HP:0002970	Genu varum	-	OMIM:615777
55697	VAC14	HP:0001636	Tetralogy of Fallot	HP:0040284	ORPHA:3472
55697	VAC14	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:3472
55697	VAC14	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:3472
55697	VAC14	HP:0000303	Mandibular prognathia	-	OMIM:131300
55697	VAC14	HP:0006628	Absent sternal ossification	HP:0040282	ORPHA:3472
55697	VAC14	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55697	VAC14	HP:0000463	Anteverted nares	HP:0040282	ORPHA:3472
55697	VAC14	HP:0001789	Hydrops fetalis	HP:0040283	ORPHA:3472
55697	VAC14	HP:0000470	Short neck	1/7	OMIM:615777
55697	VAC14	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55697	VAC14	HP:0001763	Pes planus	1/7	OMIM:615777
55697	VAC14	HP:0006713	Aplasia/Hypoplasia of the scapulae	HP:0040283	ORPHA:3472
55697	VAC14	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040282	ORPHA:3472
55697	VAC14	HP:0006710	Aplasia/Hypoplasia of the clavicles	HP:0040282	ORPHA:3472
55697	VAC14	HP:0000518	Cataract	HP:0040282	ORPHA:3472
55697	VAC14	HP:0001840	Metatarsus adductus	-	OMIM:615777
55697	VAC14	HP:0001840	Metatarsus adductus	HP:0040282	ORPHA:3472
55697	VAC14	HP:0000520	Proptosis	2/4	OMIM:131300
55697	VAC14	HP:0000520	Proptosis	HP:0040282	ORPHA:3472
55697	VAC14	HP:0000520	Proptosis	7/7	OMIM:615777
55697	VAC14	HP:0001838	Rocker bottom foot	HP:0040282	ORPHA:3472
55697	VAC14	HP:0001831	Short toe	HP:0040282	ORPHA:3472
55697	VAC14	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:3472
55697	VAC14	HP:0000592	Blue sclerae	2/7	OMIM:615777
55697	VAC14	HP:0000568	Microphthalmia	HP:0040283	ORPHA:3472
55697	VAC14	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55697	VAC14	HP:0012514	Lower limb pain	4/4	OMIM:131300
55699	IARS2	HP:0001182	Tapered finger	-	OMIM:616007
55699	IARS2	HP:0002487	Hyperkinetic movements	HP:0040283	ORPHA:506
55699	IARS2	HP:0001156	Brachydactyly	-	OMIM:616007
55699	IARS2	HP:0002493	Upper motor neuron dysfunction	HP:0040282	ORPHA:506
55699	IARS2	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:506
55699	IARS2	HP:0002460	Distal muscle weakness	HP:0040283	ORPHA:506
55699	IARS2	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040281	ORPHA:436174
55699	IARS2	HP:0410145	Decreased circulating biotinidase concentration	HP:0040283	ORPHA:506
55699	IARS2	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:506
55699	IARS2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55699	IARS2	HP:0001293	Cranial nerve compression	-	OMIM:131300
55699	IARS2	HP:0001272	Cerebellar atrophy	HP:0040284	ORPHA:506
55699	IARS2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:506
55699	IARS2	HP:0001270	Motor delay	HP:0040281	ORPHA:436174
55699	IARS2	HP:0001270	Motor delay	1/1	OMIM:616007
55699	IARS2	HP:0001250	Seizure	HP:0040283	ORPHA:506
55699	IARS2	HP:0001252	Hypotonia	1/1	OMIM:616007
55699	IARS2	HP:0001252	Hypotonia	2/7	OMIM:615777
55699	IARS2	HP:0001251	Ataxia	HP:0040283	ORPHA:506
55699	IARS2	HP:0002579	Gastrointestinal dysmotility	HP:0040284	ORPHA:506
55699	IARS2	HP:0001249	Intellectual disability	5/7	OMIM:615777
55699	IARS2	HP:0001265	Hyporeflexia	-	OMIM:616007
55699	IARS2	HP:0001264	Spastic diplegia	HP:0040283	ORPHA:506
55699	IARS2	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:506
55699	IARS2	HP:0001263	Global developmental delay	-	OMIM:616007
55699	IARS2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:506
55699	IARS2	HP:0001263	Global developmental delay	-	OMIM:615777
55699	IARS2	HP:0001257	Spasticity	HP:0040283	ORPHA:506
55699	IARS2	HP:0002571	Achalasia	1/3	OMIM:616007
55699	IARS2	HP:0002571	Achalasia	HP:0040281	ORPHA:436174
55699	IARS2	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:506
55699	IARS2	HP:0100876	Infra-orbital crease	1/1	OMIM:616007
55699	IARS2	HP:0002542	Olivopontocerebellar atrophy	HP:0040283	ORPHA:506
55699	IARS2	HP:0002521	Hypsarrhythmia	-	OMIM:616007
55699	IARS2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:506
55699	IARS2	HP:0002515	Waddling gait	54/102	OMIM:131300
55699	IARS2	HP:0001399	Hepatic failure	HP:0040283	ORPHA:506
55699	IARS2	HP:0001374	Congenital hip dislocation	1/3	OMIM:616007
55699	IARS2	HP:0001371	Flexion contracture	-	OMIM:616007
55699	IARS2	HP:0001382	Joint hypermobility	1/1	OMIM:616007
55699	IARS2	HP:0001382	Joint hypermobility	-	OMIM:615777
55699	IARS2	HP:0002677	Small foramen magnum	1/1	OMIM:616007
55699	IARS2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55699	IARS2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55699	IARS2	HP:0007470	Periarticular subcutaneous nodules	HP:0040281	ORPHA:436174
55699	IARS2	HP:0002663	Delayed epiphyseal ossification	1/1	OMIM:616007
55699	IARS2	HP:0001332	Dystonia	HP:0040283	ORPHA:506
55699	IARS2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55699	IARS2	HP:0001324	Muscle weakness	HP:0040283	ORPHA:506
55699	IARS2	HP:0001324	Muscle weakness	40/96	OMIM:131300
55699	IARS2	HP:0002655	Spondyloepiphyseal dysplasia	HP:0040281	ORPHA:436174
55699	IARS2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55699	IARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55699	IARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616007
55699	IARS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55699	IARS2	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:436174
55699	IARS2	HP:0002650	Scoliosis	HP:0040281	ORPHA:436174
55699	IARS2	HP:0002650	Scoliosis	3/3	OMIM:616007
55699	IARS2	HP:0002650	Scoliosis	12/14	OMIM:131300
55699	IARS2	HP:0002651	Spondyloepimetaphyseal dysplasia	1/1	OMIM:616007
55699	IARS2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55699	IARS2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55699	IARS2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55699	IARS2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55699	IARS2	HP:0000160	Narrow mouth	HP:0040281	ORPHA:436174
55699	IARS2	HP:0000160	Narrow mouth	1/3	OMIM:616007
55699	IARS2	HP:0000175	Cleft palate	2/7	OMIM:615777
55699	IARS2	HP:0012120	Methylmalonic aciduria	HP:0040283	ORPHA:506
55699	IARS2	HP:0008972	Decreased activity of mitochondrial respiratory chain	HP:0040282	ORPHA:506
55699	IARS2	HP:0008947	Floppy infant	HP:0040281	ORPHA:506
55699	IARS2	HP:0002793	Abnormal pattern of respiration	HP:0040283	ORPHA:506
55699	IARS2	HP:0000124	Renal tubular dysfunction	HP:0040284	ORPHA:506
55699	IARS2	HP:0000100	Nephrotic syndrome	HP:0040284	ORPHA:506
55699	IARS2	HP:0003348	Hyperalaninemia	HP:0040283	ORPHA:506
55699	IARS2	HP:0002015	Dysphagia	HP:0040283	ORPHA:506
55699	IARS2	HP:0003311	Hypoplasia of the odontoid process	1/3	OMIM:616007
55699	IARS2	HP:0003307	Hyperlordosis	-	OMIM:616007
55699	IARS2	HP:0011800	Midface retrusion	-	OMIM:616007
55699	IARS2	HP:0003390	Sensory axonal neuropathy	HP:0040283	ORPHA:506
55699	IARS2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:506
55699	IARS2	HP:0002072	Chorea	HP:0040283	ORPHA:506
55699	IARS2	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:506
55699	IARS2	HP:0003388	Easy fatigability	36/76	OMIM:131300
55699	IARS2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55699	IARS2	HP:0011734	Central adrenal insufficiency	-	OMIM:616007
55699	IARS2	HP:0100585	Telangiectasia of the skin	1/1	OMIM:616007
55699	IARS2	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:506
55699	IARS2	HP:0002120	Cerebral cortical atrophy	-	OMIM:616007
55699	IARS2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:506
55699	IARS2	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:616007
55699	IARS2	HP:0003416	Spinal canal stenosis	-	OMIM:616007
55699	IARS2	HP:0003416	Spinal canal stenosis	HP:0040281	ORPHA:436174
55699	IARS2	HP:0011924	Decreased activity of mitochondrial complex III	HP:0040283	ORPHA:506
55699	IARS2	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040282	ORPHA:506
55699	IARS2	HP:0002171	Gliosis	HP:0040282	ORPHA:506
55699	IARS2	HP:0003593	Infantile onset	3/3	OMIM:616007
55699	IARS2	HP:0003577	Congenital onset	1/1	OMIM:616007
55699	IARS2	HP:0003535	3-Methylglutaconic aciduria	HP:0040283	ORPHA:506
55699	IARS2	HP:0200147	Neuronal loss in basal ganglia	HP:0040283	ORPHA:506
55699	IARS2	HP:0007021	Pain insensitivity	1/1	OMIM:616007
55699	IARS2	HP:0008347	Decreased activity of mitochondrial complex IV	HP:0040283	ORPHA:506
55699	IARS2	HP:0008336	Complex organic aciduria	HP:0040282	ORPHA:506
55699	IARS2	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:506
55699	IARS2	HP:0008314	Decreased activity of mitochondrial complex II	HP:0040284	ORPHA:506
55699	IARS2	HP:0003510	Severe short stature	7/7	OMIM:615777
55699	IARS2	HP:0001029	Poikiloderma	1/1	OMIM:616007
55699	IARS2	HP:0002376	Developmental regression	HP:0040282	ORPHA:506
55699	IARS2	HP:0002344	Progressive neurologic deterioration	HP:0040282	ORPHA:506
55699	IARS2	HP:0003648	Lacticaciduria	HP:0040281	ORPHA:506
55699	IARS2	HP:0002315	Headache	-	OMIM:131300
55699	IARS2	HP:0004976	Knee dislocation	6/7	OMIM:615777
55699	IARS2	HP:0100660	Dyskinesia	HP:0040284	ORPHA:506
55699	IARS2	HP:0009830	Peripheral neuropathy	HP:0040281	ORPHA:436174
55699	IARS2	HP:0009830	Peripheral neuropathy	1/1	OMIM:616007
55699	IARS2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:506
55699	IARS2	HP:0001097	Keratoconjunctivitis sicca	-	OMIM:616007
55699	IARS2	HP:0009803	Short phalanx of finger	-	OMIM:615777
55699	IARS2	HP:0007141	Sensorimotor neuropathy	-	OMIM:616007
55699	IARS2	HP:0008445	Cervical spinal canal stenosis	1/3	OMIM:616007
55699	IARS2	HP:0008445	Cervical spinal canal stenosis	HP:0040281	ORPHA:436174
55699	IARS2	HP:0009763	Limb pain	63/92	OMIM:131300
55699	IARS2	HP:0002305	Athetosis	HP:0040283	ORPHA:506
55699	IARS2	HP:0003621	Juvenile onset	-	OMIM:131300
55699	IARS2	HP:0007183	Focal T2 hyperintense basal ganglia lesion	HP:0040282	ORPHA:506
55699	IARS2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55699	IARS2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55699	IARS2	HP:0000639	Nystagmus	HP:0040283	ORPHA:506
55699	IARS2	HP:0000639	Nystagmus	1/1	OMIM:616007
55699	IARS2	HP:6001056	Out-toeing	-	OMIM:131300
55699	IARS2	HP:0000651	Diplopia	-	OMIM:131300
55699	IARS2	HP:0000648	Optic atrophy	HP:0040282	ORPHA:506
55699	IARS2	HP:0001947	Renal tubular acidosis	HP:0040284	ORPHA:506
55699	IARS2	HP:0001943	Hypoglycemia	3/3	OMIM:616007
55699	IARS2	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:506
55699	IARS2	HP:0001956	Truncal obesity	2/7	OMIM:615777
55699	IARS2	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:506
55699	IARS2	HP:0001903	Anemia	HP:0040283	ORPHA:506
55699	IARS2	HP:0001903	Anemia	HP:0040283	OMIM:131300
55699	IARS2	HP:0010049	Short metacarpal	-	OMIM:615777
55699	IARS2	HP:0012696	Abnormal thalamic MRI signal intensity	HP:0040282	ORPHA:506
55699	IARS2	HP:0011335	Frontal hirsutism	HP:0040284	ORPHA:506
55699	IARS2	HP:0000678	Dental crowding	-	OMIM:615777
55699	IARS2	HP:0001993	Ketoacidosis	HP:0040283	ORPHA:506
55699	IARS2	HP:0000670	Carious teeth	-	OMIM:131300
55699	IARS2	HP:0011304	Broad thumb	2/7	OMIM:615777
55699	IARS2	HP:0000668	Hypodontia	-	OMIM:615777
55699	IARS2	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:506
55699	IARS2	HP:0000664	Synophrys	-	OMIM:615777
55699	IARS2	HP:0000666	Horizontal nystagmus	-	OMIM:616007
55699	IARS2	HP:0004322	Short stature	HP:0040281	ORPHA:436174
55699	IARS2	HP:0004322	Short stature	1/1	OMIM:616007
55699	IARS2	HP:0005659	Thoracic kyphoscoliosis	HP:0040281	ORPHA:436174
55699	IARS2	HP:0004305	Involuntary movements	HP:0040282	ORPHA:506
55699	IARS2	HP:0006943	Diffuse spongiform leukoencephalopathy	HP:0040282	ORPHA:506
55699	IARS2	HP:0004396	Poor appetite	-	OMIM:131300
55699	IARS2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55699	IARS2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55699	IARS2	HP:0003015	Flared metaphysis	1/1	OMIM:616007
55699	IARS2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55699	IARS2	HP:0003026	Short long bone	7/7	OMIM:615777
55699	IARS2	HP:0003026	Short long bone	1/1	OMIM:616007
55699	IARS2	HP:0003025	Metaphyseal irregularity	1/1	OMIM:616007
55699	IARS2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55699	IARS2	HP:0012747	Abnormal brainstem MRI signal intensity	HP:0040282	ORPHA:506
55699	IARS2	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040282	ORPHA:506
55699	IARS2	HP:0012751	Abnormal basal ganglia MRI signal intensity	HP:0040282	ORPHA:506
55699	IARS2	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:506
55699	IARS2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55699	IARS2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55699	IARS2	HP:0000763	Sensory neuropathy	-	OMIM:616007
55699	IARS2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55699	IARS2	HP:0000750	Delayed speech and language development	-	OMIM:615777
55699	IARS2	HP:0012707	Elevated brain lactate level by MRS	HP:0040282	ORPHA:506
55699	IARS2	HP:0011461	Fetal onset	7/7	OMIM:615777
55699	IARS2	HP:0000774	Narrow chest	2/7	OMIM:615777
55699	IARS2	HP:0004425	Flat forehead	-	OMIM:616007
55699	IARS2	HP:0003198	Myopathy	HP:0040283	ORPHA:506
55699	IARS2	HP:0003196	Short nose	1/1	OMIM:616007
55699	IARS2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:506
55699	IARS2	HP:0000926	Platyspondyly	1/7	OMIM:615777
55699	IARS2	HP:0100321	Abnormal dentate nucleus morphology	HP:0040282	ORPHA:506
55699	IARS2	HP:0003180	Flat acetabular roof	-	OMIM:615777
55699	IARS2	HP:0004482	Relative macrocephaly	-	OMIM:615777
55699	IARS2	HP:0003162	Fasting hypoglycemia	HP:0040281	ORPHA:436174
55699	IARS2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55699	IARS2	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:506
55699	IARS2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040281	ORPHA:436174
55699	IARS2	HP:0000824	Decreased response to growth hormone stimulation test	3/3	OMIM:616007
55699	IARS2	HP:0000823	Delayed puberty	-	OMIM:131300
55699	IARS2	HP:0000894	Short clavicles	-	OMIM:615777
55699	IARS2	HP:0003219	Ethylmalonic aciduria	HP:0040283	ORPHA:506
55699	IARS2	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:506
55699	IARS2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55699	IARS2	HP:0000998	Hypertrichosis	HP:0040282	ORPHA:506
55699	IARS2	HP:0010306	Short thorax	1/1	OMIM:616007
55699	IARS2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55699	IARS2	HP:0000964	Eczematoid dermatitis	HP:0040284	ORPHA:506
55699	IARS2	HP:0000938	Osteopenia	-	OMIM:616007
55699	IARS2	HP:0040197	Encephalomalacia	HP:0040284	ORPHA:506
55699	IARS2	HP:0000286	Epicanthus	1/7	OMIM:615777
55699	IARS2	HP:0000280	Coarse facial features	2/7	OMIM:615777
55699	IARS2	HP:0001596	Alopecia	HP:0040284	ORPHA:506
55699	IARS2	HP:0002827	Hip dislocation	HP:0040281	ORPHA:436174
55699	IARS2	HP:0002827	Hip dislocation	2/2	OMIM:616007
55699	IARS2	HP:0002827	Hip dislocation	3/7	OMIM:615777
55699	IARS2	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:506
55699	IARS2	HP:0000238	Hydrocephalus	1/1	OMIM:616007
55699	IARS2	HP:0000252	Microcephaly	-	OMIM:615777
55699	IARS2	HP:0002878	Respiratory failure	HP:0040283	ORPHA:506
55699	IARS2	HP:0000233	Thin vermilion border	1/1	OMIM:616007
55699	IARS2	HP:0002857	Genu valgum	-	OMIM:131300
55699	IARS2	HP:0002857	Genu valgum	HP:0040281	ORPHA:436174
55699	IARS2	HP:0002857	Genu valgum	2/4	OMIM:616007
55699	IARS2	HP:0001533	Slender build	-	OMIM:131300
55699	IARS2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:506
55699	IARS2	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:506
55699	IARS2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55699	IARS2	HP:0001510	Growth delay	3/3	OMIM:616007
55699	IARS2	HP:0001510	Growth delay	HP:0040282	ORPHA:506
55699	IARS2	HP:0007807	Optic nerve compression	-	OMIM:131300
55699	IARS2	HP:0000399	Prelingual sensorineural hearing impairment	HP:0040281	ORPHA:436174
55699	IARS2	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:506
55699	IARS2	HP:0012368	Flat face	7/7	OMIM:615777
55699	IARS2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55699	IARS2	HP:0002936	Distal sensory impairment	3/3	OMIM:616007
55699	IARS2	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	HP:0040282	ORPHA:506
55699	IARS2	HP:0002909	Generalized aminoaciduria	HP:0040283	ORPHA:506
55699	IARS2	HP:0000365	Hearing impairment	10/67	OMIM:131300
55699	IARS2	HP:0000343	Long philtrum	-	OMIM:616007
55699	IARS2	HP:0000343	Long philtrum	1/7	OMIM:615777
55699	IARS2	HP:0011001	Increased bone mineral density	-	OMIM:131300
55699	IARS2	HP:0000348	High forehead	HP:0040284	ORPHA:506
55699	IARS2	HP:0000347	Micrognathia	1/1	OMIM:616007
55699	IARS2	HP:0000311	Round face	2/7	OMIM:615777
55699	IARS2	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:506
55699	IARS2	HP:0001623	Breech presentation	1/1	OMIM:616007
55699	IARS2	HP:0002970	Genu varum	-	OMIM:615777
55699	IARS2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:506
55699	IARS2	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:506
55699	IARS2	HP:0000303	Mandibular prognathia	-	OMIM:131300
55699	IARS2	HP:0000303	Mandibular prognathia	-	OMIM:616007
55699	IARS2	HP:0000408	Progressive sensorineural hearing impairment	HP:0040281	ORPHA:436174
55699	IARS2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:506
55699	IARS2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:436174
55699	IARS2	HP:0000407	Sensorineural hearing impairment	4/4	OMIM:616007
55699	IARS2	HP:0000400	Macrotia	HP:0040284	ORPHA:506
55699	IARS2	HP:0005280	Depressed nasal bridge	1/1	OMIM:616007
55699	IARS2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55699	IARS2	HP:0000486	Strabismus	-	OMIM:616007
55699	IARS2	HP:0012469	Infantile spasms	HP:0040284	ORPHA:506
55699	IARS2	HP:0000490	Deeply set eye	-	OMIM:616007
55699	IARS2	HP:0000470	Short neck	1/7	OMIM:615777
55699	IARS2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55699	IARS2	HP:0001763	Pes planus	-	OMIM:616007
55699	IARS2	HP:0001763	Pes planus	1/7	OMIM:615777
55699	IARS2	HP:0000430	Underdeveloped nasal alae	1/1	OMIM:616007
55699	IARS2	HP:0000518	Cataract	HP:0040281	ORPHA:436174
55699	IARS2	HP:0000518	Cataract	4/4	OMIM:616007
55699	IARS2	HP:0000518	Cataract	HP:0040284	ORPHA:506
55699	IARS2	HP:0000519	Developmental cataract	HP:0040281	ORPHA:436174
55699	IARS2	HP:0001840	Metatarsus adductus	-	OMIM:615777
55699	IARS2	HP:0000520	Proptosis	2/4	OMIM:131300
55699	IARS2	HP:0000520	Proptosis	7/7	OMIM:615777
55699	IARS2	HP:0000508	Ptosis	HP:0040283	ORPHA:506
55699	IARS2	HP:0000508	Ptosis	-	OMIM:616007
55699	IARS2	HP:0031691	Severe viral infection	HP:0040282	ORPHA:506
55699	IARS2	HP:0000592	Blue sclerae	2/7	OMIM:615777
55699	IARS2	HP:0000587	Abnormal optic nerve morphology	HP:0040282	ORPHA:506
55699	IARS2	HP:0011220	Prominent forehead	HP:0040281	ORPHA:436174
55699	IARS2	HP:0011220	Prominent forehead	2/4	OMIM:616007
55699	IARS2	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:436174
55699	IARS2	HP:0000574	Thick eyebrow	1/3	OMIM:616007
55699	IARS2	HP:0000565	Esotropia	-	OMIM:616007
55699	IARS2	HP:0000540	Hypermetropia	1/1	OMIM:616007
55699	IARS2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55699	IARS2	HP:0012514	Lower limb pain	4/4	OMIM:131300
55699	IARS2	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:506
55703	POLR3B	HP:0001151	Impaired horizontal smooth pursuit	4/4	OMIM:614381
55703	POLR3B	HP:0007256	Abnormal pyramidal sign	1/1	OMIM:614381
55703	POLR3B	HP:0002415	Leukodystrophy	5/5	OMIM:614381
55703	POLR3B	HP:0002415	Leukodystrophy	-	OMIM:607694
55703	POLR3B	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55703	POLR3B	HP:0001293	Cranial nerve compression	-	OMIM:131300
55703	POLR3B	HP:0001272	Cerebellar atrophy	5/5	OMIM:614381
55703	POLR3B	HP:0001272	Cerebellar atrophy	1/6	OMIM:619742
55703	POLR3B	HP:0001272	Cerebellar atrophy	-	OMIM:607694
55703	POLR3B	HP:0001256	Intellectual disability, mild	3/4	OMIM:614381
55703	POLR3B	HP:0001250	Seizure	3/19	OMIM:607694
55703	POLR3B	HP:0001250	Seizure	3/6	OMIM:619742
55703	POLR3B	HP:0001252	Hypotonia	2/7	OMIM:615777
55703	POLR3B	HP:0001251	Ataxia	8/8	OMIM:614381
55703	POLR3B	HP:0001251	Ataxia	-	OMIM:607694
55703	POLR3B	HP:0001251	Ataxia	3/6	OMIM:619742
55703	POLR3B	HP:0001251	Ataxia	HP:0040281	ORPHA:88637
55703	POLR3B	HP:0001249	Intellectual disability	4/4	OMIM:614381
55703	POLR3B	HP:0001249	Intellectual disability	5/6	OMIM:619742
55703	POLR3B	HP:0001249	Intellectual disability	5/7	OMIM:615777
55703	POLR3B	HP:0001265	Hyporeflexia	1/6	OMIM:619742
55703	POLR3B	HP:0001260	Dysarthria	11/11	OMIM:614381
55703	POLR3B	HP:0001260	Dysarthria	5/6	OMIM:619742
55703	POLR3B	HP:0001260	Dysarthria	-	OMIM:607694
55703	POLR3B	HP:0001263	Global developmental delay	4/4	OMIM:614381
55703	POLR3B	HP:0001263	Global developmental delay	7/19	OMIM:607694
55703	POLR3B	HP:0001263	Global developmental delay	5/6	OMIM:619742
55703	POLR3B	HP:0001263	Global developmental delay	-	OMIM:615777
55703	POLR3B	HP:0001257	Spasticity	3/7	OMIM:614381
55703	POLR3B	HP:0001257	Spasticity	4/6	OMIM:619742
55703	POLR3B	HP:0001257	Spasticity	-	OMIM:607694
55703	POLR3B	HP:0031058	Impairment of activities of daily living	4/6	OMIM:619742
55703	POLR3B	HP:0002515	Waddling gait	54/102	OMIM:131300
55703	POLR3B	HP:0002505	Loss of ambulation	12/19	OMIM:607694
55703	POLR3B	HP:0000044	Hypogonadotropic hypogonadism	5/7	OMIM:614381
55703	POLR3B	HP:0000044	Hypogonadotropic hypogonadism	7/18	OMIM:607694
55703	POLR3B	HP:0001382	Joint hypermobility	-	OMIM:615777
55703	POLR3B	HP:0001347	Hyperreflexia	-	OMIM:614381
55703	POLR3B	HP:0001347	Hyperreflexia	3/6	OMIM:619742
55703	POLR3B	HP:0001347	Hyperreflexia	-	OMIM:607694
55703	POLR3B	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55703	POLR3B	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55703	POLR3B	HP:0001332	Dystonia	1/1	OMIM:614381
55703	POLR3B	HP:0001332	Dystonia	-	OMIM:607694
55703	POLR3B	HP:0033725	Thin corpus callosum	4/4	OMIM:614381
55703	POLR3B	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55703	POLR3B	HP:0001324	Muscle weakness	40/96	OMIM:131300
55703	POLR3B	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55703	POLR3B	HP:0000007	Autosomal recessive inheritance	-	OMIM:607694
55703	POLR3B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55703	POLR3B	HP:0000007	Autosomal recessive inheritance	-	OMIM:614381
55703	POLR3B	HP:0001337	Tremor	1/1	OMIM:614381
55703	POLR3B	HP:0001337	Tremor	11/19	OMIM:607694
55703	POLR3B	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55703	POLR3B	HP:0000006	Autosomal dominant inheritance	-	OMIM:619742
55703	POLR3B	HP:0001310	Dysmetria	11/11	OMIM:614381
55703	POLR3B	HP:0001310	Dysmetria	-	OMIM:607694
55703	POLR3B	HP:0002650	Scoliosis	12/14	OMIM:131300
55703	POLR3B	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55703	POLR3B	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55703	POLR3B	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55703	POLR3B	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55703	POLR3B	HP:0000175	Cleft palate	2/7	OMIM:615777
55703	POLR3B	HP:0002015	Dysphagia	1/4	OMIM:614381
55703	POLR3B	HP:0002015	Dysphagia	7/19	OMIM:607694
55703	POLR3B	HP:0002080	Intention tremor	4/5	OMIM:614381
55703	POLR3B	HP:0002066	Gait ataxia	1/1	OMIM:614381
55703	POLR3B	HP:0002064	Spastic gait	4/6	OMIM:619742
55703	POLR3B	HP:0002079	Hypoplasia of the corpus callosum	4/4	OMIM:614381
55703	POLR3B	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:607694
55703	POLR3B	HP:0002075	Dysdiadochokinesis	4/4	OMIM:614381
55703	POLR3B	HP:0003388	Easy fatigability	36/76	OMIM:131300
55703	POLR3B	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55703	POLR3B	HP:0003487	Babinski sign	4/6	OMIM:619742
55703	POLR3B	HP:0003487	Babinski sign	-	OMIM:607694
55703	POLR3B	HP:0002120	Cerebral cortical atrophy	-	OMIM:607694
55703	POLR3B	HP:0003429	CNS hypomyelination	4/4	OMIM:614381
55703	POLR3B	HP:0003429	CNS hypomyelination	HP:0040281	ORPHA:88637
55703	POLR3B	HP:0003429	CNS hypomyelination	-	OMIM:607694
55703	POLR3B	HP:0002188	Delayed CNS myelination	1/6	OMIM:619742
55703	POLR3B	HP:0002174	Postural tremor	-	OMIM:607694
55703	POLR3B	HP:0003593	Infantile onset	2/19	OMIM:607694
55703	POLR3B	HP:0003593	Infantile onset	4/6	OMIM:619742
55703	POLR3B	HP:0003577	Congenital onset	1/1	OMIM:614381
55703	POLR3B	HP:0003577	Congenital onset	1/19	OMIM:607694
55703	POLR3B	HP:0003510	Severe short stature	7/7	OMIM:615777
55703	POLR3B	HP:0007099	Chiari type I malformation	1/6	OMIM:619742
55703	POLR3B	HP:0002359	Frequent falls	1/6	OMIM:619742
55703	POLR3B	HP:0002376	Developmental regression	19/19	OMIM:607694
55703	POLR3B	HP:0003676	Progressive	-	OMIM:607694
55703	POLR3B	HP:0002342	Intellectual disability, moderate	1/4	OMIM:614381
55703	POLR3B	HP:0002315	Headache	-	OMIM:131300
55703	POLR3B	HP:0004976	Knee dislocation	6/7	OMIM:615777
55703	POLR3B	HP:0009830	Peripheral neuropathy	HP:0040283	OMIM:607694
55703	POLR3B	HP:0100613	Death in early adulthood	3/19	OMIM:607694
55703	POLR3B	HP:0009803	Short phalanx of finger	-	OMIM:615777
55703	POLR3B	HP:0009763	Limb pain	63/92	OMIM:131300
55703	POLR3B	HP:0007108	Demyelinating peripheral neuropathy	5/6	OMIM:619742
55703	POLR3B	HP:0002307	Drooling	7/19	OMIM:607694
55703	POLR3B	HP:0003621	Juvenile onset	10/19	OMIM:607694
55703	POLR3B	HP:0003621	Juvenile onset	-	OMIM:131300
55703	POLR3B	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55703	POLR3B	HP:0006858	Impaired distal proprioception	1/2	OMIM:619742
55703	POLR3B	HP:0006855	Cerebellar vermis atrophy	3/3	OMIM:614381
55703	POLR3B	HP:0006808	Cerebral hypomyelination	-	OMIM:614381
55703	POLR3B	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55703	POLR3B	HP:0006886	Impaired distal vibration sensation	1/2	OMIM:619742
55703	POLR3B	HP:0000640	Gaze-evoked nystagmus	3/19	OMIM:607694
55703	POLR3B	HP:6001056	Out-toeing	-	OMIM:131300
55703	POLR3B	HP:0000651	Diplopia	-	OMIM:131300
55703	POLR3B	HP:0000648	Optic atrophy	1/1	OMIM:614381
55703	POLR3B	HP:0000648	Optic atrophy	4/19	OMIM:607694
55703	POLR3B	HP:0000617	Abnormality of ocular smooth pursuit	13/19	OMIM:607694
55703	POLR3B	HP:0001956	Truncal obesity	2/7	OMIM:615777
55703	POLR3B	HP:0001903	Anemia	HP:0040283	OMIM:131300
55703	POLR3B	HP:0010049	Short metacarpal	-	OMIM:615777
55703	POLR3B	HP:0000684	Delayed eruption of teeth	2/3	OMIM:614381
55703	POLR3B	HP:0000678	Dental crowding	-	OMIM:615777
55703	POLR3B	HP:0000677	Oligodontia	2/3	OMIM:614381
55703	POLR3B	HP:0000677	Oligodontia	-	OMIM:607694
55703	POLR3B	HP:0000695	Natal tooth	2/3	OMIM:614381
55703	POLR3B	HP:0000670	Carious teeth	-	OMIM:131300
55703	POLR3B	HP:0011304	Broad thumb	2/7	OMIM:615777
55703	POLR3B	HP:0000668	Hypodontia	0/4	OMIM:614381
55703	POLR3B	HP:0000668	Hypodontia	HP:0040281	ORPHA:88637
55703	POLR3B	HP:0000668	Hypodontia	-	OMIM:615777
55703	POLR3B	HP:0000668	Hypodontia	15/19	OMIM:607694
55703	POLR3B	HP:0000664	Synophrys	-	OMIM:615777
55703	POLR3B	HP:0000666	Horizontal nystagmus	2/4	OMIM:614381
55703	POLR3B	HP:0004322	Short stature	-	OMIM:614381
55703	POLR3B	HP:0004322	Short stature	-	OMIM:607694
55703	POLR3B	HP:0004396	Poor appetite	-	OMIM:131300
55703	POLR3B	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55703	POLR3B	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55703	POLR3B	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55703	POLR3B	HP:0003026	Short long bone	7/7	OMIM:615777
55703	POLR3B	HP:0031936	Delayed ability to walk	3/6	OMIM:619742
55703	POLR3B	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55703	POLR3B	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55703	POLR3B	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55703	POLR3B	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55703	POLR3B	HP:0000750	Delayed speech and language development	1/1	OMIM:614381
55703	POLR3B	HP:0000750	Delayed speech and language development	4/6	OMIM:619742
55703	POLR3B	HP:0000750	Delayed speech and language development	-	OMIM:615777
55703	POLR3B	HP:0011463	Childhood onset	7/7	OMIM:614381
55703	POLR3B	HP:0011463	Childhood onset	6/19	OMIM:607694
55703	POLR3B	HP:0011463	Childhood onset	2/6	OMIM:619742
55703	POLR3B	HP:0011461	Fetal onset	7/7	OMIM:615777
55703	POLR3B	HP:0000774	Narrow chest	2/7	OMIM:615777
55703	POLR3B	HP:0000926	Platyspondyly	1/7	OMIM:615777
55703	POLR3B	HP:0003180	Flat acetabular roof	-	OMIM:615777
55703	POLR3B	HP:0004482	Relative macrocephaly	-	OMIM:615777
55703	POLR3B	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55703	POLR3B	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:88637
55703	POLR3B	HP:0000823	Delayed puberty	-	OMIM:131300
55703	POLR3B	HP:0000823	Delayed puberty	HP:0040281	OMIM:607694
55703	POLR3B	HP:0000894	Short clavicles	-	OMIM:615777
55703	POLR3B	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55703	POLR3B	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55703	POLR3B	HP:0000286	Epicanthus	1/7	OMIM:615777
55703	POLR3B	HP:0000280	Coarse facial features	2/7	OMIM:615777
55703	POLR3B	HP:0002827	Hip dislocation	1/1	OMIM:614381
55703	POLR3B	HP:0002827	Hip dislocation	3/7	OMIM:615777
55703	POLR3B	HP:0000252	Microcephaly	1/6	OMIM:619742
55703	POLR3B	HP:0000252	Microcephaly	-	OMIM:615777
55703	POLR3B	HP:0002857	Genu valgum	-	OMIM:131300
55703	POLR3B	HP:0001533	Slender build	-	OMIM:131300
55703	POLR3B	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55703	POLR3B	HP:0001510	Growth delay	1/1	OMIM:614381
55703	POLR3B	HP:0007807	Optic nerve compression	-	OMIM:131300
55703	POLR3B	HP:0012368	Flat face	7/7	OMIM:615777
55703	POLR3B	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55703	POLR3B	HP:0000365	Hearing impairment	10/67	OMIM:131300
55703	POLR3B	HP:0011003	High myopia	1/1	OMIM:614381
55703	POLR3B	HP:0000343	Long philtrum	1/7	OMIM:615777
55703	POLR3B	HP:0011001	Increased bone mineral density	-	OMIM:131300
55703	POLR3B	HP:0000311	Round face	2/7	OMIM:615777
55703	POLR3B	HP:0002970	Genu varum	-	OMIM:615777
55703	POLR3B	HP:0000303	Mandibular prognathia	-	OMIM:131300
55703	POLR3B	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55703	POLR3B	HP:0000470	Short neck	1/7	OMIM:615777
55703	POLR3B	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55703	POLR3B	HP:0001763	Pes planus	1/7	OMIM:615777
55703	POLR3B	HP:0001840	Metatarsus adductus	-	OMIM:615777
55703	POLR3B	HP:0000511	Vertical supranuclear gaze palsy	6/19	OMIM:607694
55703	POLR3B	HP:0000520	Proptosis	2/4	OMIM:131300
55703	POLR3B	HP:0000520	Proptosis	7/7	OMIM:615777
55703	POLR3B	HP:0000592	Blue sclerae	2/7	OMIM:615777
55703	POLR3B	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55703	POLR3B	HP:0012514	Lower limb pain	4/4	OMIM:131300
55703	POLR3B	HP:0000545	Myopia	3/4	OMIM:614381
55703	POLR3B	HP:0000545	Myopia	-	OMIM:607694
55704	CCDC88A	HP:0001182	Tapered finger	3/3	OMIM:617507
55704	CCDC88A	HP:0001272	Cerebellar atrophy	3/3	OMIM:617507
55704	CCDC88A	HP:0001252	Hypotonia	3/3	OMIM:617507
55704	CCDC88A	HP:0002521	Hypsarrhythmia	3/3	OMIM:617507
55704	CCDC88A	HP:0001347	Hyperreflexia	3/3	OMIM:617507
55704	CCDC88A	HP:0001344	Absent speech	3/3	OMIM:617507
55704	CCDC88A	HP:0001339	Lissencephaly	3/3	OMIM:617507
55704	CCDC88A	HP:0000007	Autosomal recessive inheritance	-	OMIM:617507
55704	CCDC88A	HP:0001336	Myoclonus	3/3	OMIM:617507
55704	CCDC88A	HP:0001302	Pachygyria	3/3	OMIM:617507
55704	CCDC88A	HP:0001319	Neonatal hypotonia	3/3	OMIM:617507
55704	CCDC88A	HP:0000194	Open mouth	3/3	OMIM:617507
55704	CCDC88A	HP:0025405	Visual fixation instability	3/3	OMIM:617507
55704	CCDC88A	HP:0002069	Bilateral tonic-clonic seizure	3/3	OMIM:617507
55704	CCDC88A	HP:0002079	Hypoplasia of the corpus callosum	3/3	OMIM:617507
55704	CCDC88A	HP:0002119	Ventriculomegaly	3/3	OMIM:617507
55704	CCDC88A	HP:0002133	Status epilepticus	3/3	OMIM:617507
55704	CCDC88A	HP:0002126	Polymicrogyria	3/3	OMIM:617507
55704	CCDC88A	HP:0002187	Intellectual disability, profound	3/3	OMIM:617507
55704	CCDC88A	HP:0003577	Congenital onset	3/3	OMIM:617507
55704	CCDC88A	HP:0011968	Feeding difficulties	3/3	OMIM:617507
55704	CCDC88A	HP:0007105	Infantile encephalopathy	-	OMIM:617507
55704	CCDC88A	HP:0000648	Optic atrophy	3/3	OMIM:617507
55704	CCDC88A	HP:0012736	Profound global developmental delay	3/3	OMIM:617507
55704	CCDC88A	HP:0003196	Short nose	3/3	OMIM:617507
55704	CCDC88A	HP:0000969	Edema	3/3	OMIM:617507
55704	CCDC88A	HP:0000286	Epicanthus	3/3	OMIM:617507
55704	CCDC88A	HP:0000278	Retrognathia	3/3	OMIM:617507
55704	CCDC88A	HP:0000293	Full cheeks	3/3	OMIM:617507
55704	CCDC88A	HP:0000253	Progressive microcephaly	3/3	OMIM:617507
55704	CCDC88A	HP:0000341	Narrow forehead	3/3	OMIM:617507
55704	CCDC88A	HP:0000340	Sloping forehead	-	OMIM:617507
55714	TENM3	HP:0001116	Macular coloboma	1/2	OMIM:615145
55714	TENM3	HP:0001249	Intellectual disability	-	OMIM:615145
55714	TENM3	HP:0001263	Global developmental delay	-	OMIM:615145
55714	TENM3	HP:0012043	Pendular nystagmus	-	OMIM:615145
55714	TENM3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615145
55714	TENM3	HP:0007663	Reduced visual acuity	2/2	OMIM:615145
55714	TENM3	HP:0003577	Congenital onset	2/2	OMIM:615145
55714	TENM3	HP:0000647	Sclerocornea	-	OMIM:615145
55714	TENM3	HP:0000612	Iris coloboma	2/2	OMIM:615145
55714	TENM3	HP:0000750	Delayed speech and language development	-	OMIM:615145
55714	TENM3	HP:0045025	Narrow palpebral fissure	-	OMIM:615145
55714	TENM3	HP:0007700	Ocular anterior segment dysgenesis	-	OMIM:615145
55714	TENM3	HP:0000369	Low-set ears	-	OMIM:615145
55714	TENM3	HP:0000343	Long philtrum	-	OMIM:615145
55714	TENM3	HP:0000316	Hypertelorism	-	OMIM:615145
55714	TENM3	HP:0000400	Macrotia	-	OMIM:615145
55714	TENM3	HP:0000482	Microcornea	2/2	OMIM:615145
55714	TENM3	HP:0000508	Ptosis	-	OMIM:615145
55714	TENM3	HP:0000505	Visual impairment	2/2	OMIM:615145
55714	TENM3	HP:0000568	Microphthalmia	2/2	OMIM:615145
55714	TENM3	HP:0000565	Esotropia	-	OMIM:615145
55714	TENM3	HP:0000541	Retinal detachment	-	OMIM:615145
55717	WDR11	HP:0001156	Brachydactyly	1/6	OMIM:620237
55717	WDR11	HP:0001138	Optic neuropathy	2/6	OMIM:620237
55717	WDR11	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:432
55717	WDR11	HP:0010864	Intellectual disability, severe	1/6	OMIM:620237
55717	WDR11	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
55717	WDR11	HP:0001256	Intellectual disability, mild	5/6	OMIM:620237
55717	WDR11	HP:0001250	Seizure	HP:0040283	ORPHA:95496
55717	WDR11	HP:0001250	Seizure	HP:0040283	ORPHA:478
55717	WDR11	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
55717	WDR11	HP:0001251	Ataxia	HP:0040283	ORPHA:478
55717	WDR11	HP:0001249	Intellectual disability	HP:0040283	ORPHA:95496
55717	WDR11	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
55717	WDR11	HP:0001263	Global developmental delay	HP:0040283	ORPHA:95496
55717	WDR11	HP:0100842	Septo-optic dysplasia	HP:0040283	ORPHA:95496
55717	WDR11	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:432
55717	WDR11	HP:0008734	Decreased testicular size	1/1	OMIM:146110
55717	WDR11	HP:0008734	Decreased testicular size	2/5	OMIM:614858
55717	WDR11	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
55717	WDR11	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:95496
55717	WDR11	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
55717	WDR11	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:432
55717	WDR11	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:432
55717	WDR11	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
55717	WDR11	HP:0000044	Hypogonadotropic hypogonadism	6/7	OMIM:614858
55717	WDR11	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
55717	WDR11	HP:0000054	Micropenis	1/1	OMIM:146110
55717	WDR11	HP:0000054	Micropenis	HP:0040281	ORPHA:478
55717	WDR11	HP:0000054	Micropenis	HP:0040281	ORPHA:432
55717	WDR11	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:432
55717	WDR11	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:95496
55717	WDR11	HP:0000028	Cryptorchidism	-	OMIM:146110
55717	WDR11	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
55717	WDR11	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:432
55717	WDR11	HP:0000028	Cryptorchidism	1/5	OMIM:614858
55717	WDR11	HP:0000027	Azoospermia	HP:0040281	ORPHA:432
55717	WDR11	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:432
55717	WDR11	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
55717	WDR11	HP:0000013	Hypoplasia of the uterus	HP:0040282	ORPHA:432
55717	WDR11	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
55717	WDR11	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
55717	WDR11	HP:0000007	Autosomal recessive inheritance	-	OMIM:620237
55717	WDR11	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
55717	WDR11	HP:0001337	Tremor	HP:0040283	ORPHA:478
55717	WDR11	HP:0000006	Autosomal dominant inheritance	-	OMIM:614858
55717	WDR11	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
55717	WDR11	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:432
55717	WDR11	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
55717	WDR11	HP:0000175	Cleft palate	HP:0040283	ORPHA:432
55717	WDR11	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
55717	WDR11	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:432
55717	WDR11	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:432
55717	WDR11	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:432
55717	WDR11	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
55717	WDR11	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
55717	WDR11	HP:0002751	Kyphoscoliosis	1/6	OMIM:620237
55717	WDR11	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
55717	WDR11	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:432
55717	WDR11	HP:0002750	Delayed skeletal maturation	1/6	OMIM:620237
55717	WDR11	HP:0002099	Asthma	1/6	OMIM:620237
55717	WDR11	HP:0011755	Ectopic posterior pituitary	HP:0040280	ORPHA:95496
55717	WDR11	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:432
55717	WDR11	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:432
55717	WDR11	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
55717	WDR11	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
55717	WDR11	HP:0002231	Sparse body hair	HP:0040281	ORPHA:432
55717	WDR11	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
55717	WDR11	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:432
55717	WDR11	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/6	OMIM:620237
55717	WDR11	HP:0001010	Hypopigmentation of the skin	1/6	OMIM:620237
55717	WDR11	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:432
55717	WDR11	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
55717	WDR11	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
55717	WDR11	HP:0003621	Juvenile onset	2/2	OMIM:146110
55717	WDR11	HP:0004209	Clinodactyly of the 5th finger	1/6	OMIM:620237
55717	WDR11	HP:0000639	Nystagmus	1/6	OMIM:620237
55717	WDR11	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
55717	WDR11	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:95496
55717	WDR11	HP:0004322	Short stature	HP:0040281	ORPHA:95496
55717	WDR11	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
55717	WDR11	HP:0000802	Impotence	HP:0040281	ORPHA:432
55717	WDR11	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
55717	WDR11	HP:0000771	Gynecomastia	HP:0040282	ORPHA:432
55717	WDR11	HP:0000771	Gynecomastia	0/1	OMIM:146110
55717	WDR11	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
55717	WDR11	HP:0000767	Pectus excavatum	1/6	OMIM:620237
55717	WDR11	HP:0000739	Anxiety	HP:0040282	ORPHA:432
55717	WDR11	HP:0000716	Depression	HP:0040282	ORPHA:432
55717	WDR11	HP:0000774	Narrow chest	2/6	OMIM:620237
55717	WDR11	HP:0000789	Infertility	HP:0040283	OMIM:146110
55717	WDR11	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:432
55717	WDR11	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
55717	WDR11	HP:0000786	Primary amenorrhea	-	OMIM:614858
55717	WDR11	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:95496
55717	WDR11	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
55717	WDR11	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
55717	WDR11	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
55717	WDR11	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:432
55717	WDR11	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
55717	WDR11	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
55717	WDR11	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:95496
55717	WDR11	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:432
55717	WDR11	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040281	ORPHA:95496
55717	WDR11	HP:0000835	Adrenal hypoplasia	HP:0040283	ORPHA:95496
55717	WDR11	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
55717	WDR11	HP:0000821	Hypothyroidism	HP:0040282	ORPHA:95496
55717	WDR11	HP:0000823	Delayed puberty	HP:0040282	ORPHA:432
55717	WDR11	HP:0000823	Delayed puberty	HP:0040282	ORPHA:95496
55717	WDR11	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
55717	WDR11	HP:0000939	Osteoporosis	HP:0040282	ORPHA:432
55717	WDR11	HP:0000938	Osteopenia	HP:0040282	ORPHA:432
55717	WDR11	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:432
55717	WDR11	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
55717	WDR11	HP:0000278	Retrognathia	1/6	OMIM:620237
55717	WDR11	HP:0000252	Microcephaly	6/6	OMIM:620237
55717	WDR11	HP:0000218	High palate	2/6	OMIM:620237
55717	WDR11	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
55717	WDR11	HP:0030019	Increased female libido	HP:0040281	ORPHA:432
55717	WDR11	HP:0001522	Death in infancy	HP:0040283	ORPHA:95496
55717	WDR11	HP:0001508	Failure to thrive	HP:0040281	ORPHA:95496
55717	WDR11	HP:0001513	Obesity	HP:0040283	ORPHA:478
55717	WDR11	HP:0012385	Camptodactyly	HP:0040283	ORPHA:432
55717	WDR11	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:432
55717	WDR11	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
55717	WDR11	HP:0000316	Hypertelorism	HP:0040283	ORPHA:432
55717	WDR11	HP:0000308	Microretrognathia	2/6	OMIM:620237
55717	WDR11	HP:0002967	Cubitus valgus	2/6	OMIM:620237
55717	WDR11	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:432
55717	WDR11	HP:0000407	Sensorineural hearing impairment	1/6	OMIM:620237
55717	WDR11	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
55717	WDR11	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:432
55717	WDR11	HP:0000486	Strabismus	1/6	OMIM:620237
55717	WDR11	HP:0000458	Anosmia	2/7	OMIM:614858
55717	WDR11	HP:0000458	Anosmia	HP:0040281	ORPHA:478
55717	WDR11	HP:0001763	Pes planus	HP:0040283	ORPHA:478
55717	WDR11	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
55717	WDR11	HP:0000508	Ptosis	HP:0040283	ORPHA:478
55717	WDR11	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
55717	WDR11	HP:0000577	Exotropia	1/6	OMIM:620237
55717	WDR11	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
55719	SLF2	HP:0008551	Microtia	1/7	OMIM:620184
55719	SLF2	HP:0001276	Hypertonia	1/7	OMIM:620184
55719	SLF2	HP:0001252	Hypotonia	2/7	OMIM:620184
55719	SLF2	HP:0001263	Global developmental delay	7/7	OMIM:620184
55719	SLF2	HP:0007400	Irregular hyperpigmentation	1/7	OMIM:620184
55719	SLF2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620184
55719	SLF2	HP:0001319	Neonatal hypotonia	1/7	OMIM:620184
55719	SLF2	HP:0002719	Recurrent infections	2/7	OMIM:620184
55719	SLF2	HP:0040262	Glue ear	1/7	OMIM:620184
55719	SLF2	HP:0002110	Bronchiectasis	1/7	OMIM:620184
55719	SLF2	HP:0003593	Infantile onset	7/7	OMIM:620184
55719	SLF2	HP:0007018	Attention deficit hyperactivity disorder	2/7	OMIM:620184
55719	SLF2	HP:0011968	Feeding difficulties	3/7	OMIM:620184
55719	SLF2	HP:0008454	Lumbar kyphosis	1/7	OMIM:620184
55719	SLF2	HP:0001903	Anemia	2/7	OMIM:620184
55719	SLF2	HP:0000670	Carious teeth	1/7	OMIM:620184
55719	SLF2	HP:0000729	Autistic behavior	1/7	OMIM:620184
55719	SLF2	HP:0000821	Hypothyroidism	2/7	OMIM:620184
55719	SLF2	HP:0000958	Dry skin	1/7	OMIM:620184
55719	SLF2	HP:0000957	Cafe-au-lait spot	3/7	OMIM:620184
55719	SLF2	HP:0000964	Eczematoid dermatitis	2/7	OMIM:620184
55719	SLF2	HP:0000276	Long face	2/7	OMIM:620184
55719	SLF2	HP:0000218	High palate	1/7	OMIM:620184
55719	SLF2	HP:0031382	Decreased anti-CD3/28-induced T-cell proliferation	1/7	OMIM:620184
55719	SLF2	HP:0012366	Basilar invagination	1/7	OMIM:620184
55719	SLF2	HP:0000343	Long philtrum	1/7	OMIM:620184
55719	SLF2	HP:0000331	Short chin	1/7	OMIM:620184
55719	SLF2	HP:0001629	Ventricular septal defect	1/7	OMIM:620184
55719	SLF2	HP:0001631	Atrial septal defect	1/7	OMIM:620184
55719	SLF2	HP:0000494	Downslanted palpebral fissures	1/7	OMIM:620184
55719	SLF2	HP:0000448	Prominent nose	1/7	OMIM:620184
55719	SLF2	HP:0000518	Cataract	1/7	OMIM:620184
55719	SLF2	HP:0001882	Decreased total leukocyte count	1/7	OMIM:620184
55719	SLF2	HP:0001873	Thrombocytopenia	1/7	OMIM:620184
55733	HHAT	HP:0001156	Brachydactyly	1/2	OMIM:600092
55733	HHAT	HP:0001252	Hypotonia	1/2	OMIM:600092
55733	HHAT	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1422
55733	HHAT	HP:0001260	Dysarthria	1/2	OMIM:600092
55733	HHAT	HP:0007359	Focal-onset seizure	1/2	OMIM:600092
55733	HHAT	HP:0000037	Male pseudohermaphroditism	HP:0040282	ORPHA:1422
55733	HHAT	HP:0000037	Male pseudohermaphroditism	1/1	OMIM:600092
55733	HHAT	HP:0033725	Thin corpus callosum	1/2	OMIM:600092
55733	HHAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:600092
55733	HHAT	HP:0001320	Cerebellar vermis hypoplasia	3/4	OMIM:600092
55733	HHAT	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:1422
55733	HHAT	HP:0007676	Hypoplasia of the iris	HP:0040282	ORPHA:1422
55733	HHAT	HP:0007676	Hypoplasia of the iris	2/2	OMIM:600092
55733	HHAT	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:600092
55733	HHAT	HP:0003394	Muscle spasm	1/2	OMIM:600092
55733	HHAT	HP:0002164	Nail dysplasia	1/2	OMIM:600092
55733	HHAT	HP:0003510	Severe short stature	2/2	OMIM:600092
55733	HHAT	HP:0003510	Severe short stature	HP:0040281	ORPHA:1422
55733	HHAT	HP:0009803	Short phalanx of finger	2/2	OMIM:600092
55733	HHAT	HP:0009803	Short phalanx of finger	HP:0040281	ORPHA:1422
55733	HHAT	HP:0006872	Cerebral hypoplasia	HP:0040282	ORPHA:1422
55733	HHAT	HP:0000616	Miosis	HP:0040282	ORPHA:1422
55733	HHAT	HP:0010049	Short metacarpal	-	OMIM:600092
55733	HHAT	HP:0010049	Short metacarpal	HP:0040281	ORPHA:1422
55733	HHAT	HP:0004330	Increased skull ossification	HP:0040281	ORPHA:1422
55733	HHAT	HP:0005622	Broad long bones	HP:0040281	ORPHA:1422
55733	HHAT	HP:0005621	Trapezoidal vertebral body	1/2	OMIM:600092
55733	HHAT	HP:0003043	Abnormal shoulder morphology	HP:0040281	ORPHA:1422
55733	HHAT	HP:0000774	Narrow chest	2/2	OMIM:600092
55733	HHAT	HP:0000774	Narrow chest	HP:0040281	ORPHA:1422
55733	HHAT	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:600092
55733	HHAT	HP:0001591	Bell-shaped thorax	2/2	OMIM:600092
55733	HHAT	HP:0000252	Microcephaly	HP:0040281	ORPHA:1422
55733	HHAT	HP:0000252	Microcephaly	4/4	OMIM:600092
55733	HHAT	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:1422
55733	HHAT	HP:0025681	Distal clavicular thinning	2/2	OMIM:600092
55733	HHAT	HP:0002983	Micromelia	2/2	OMIM:600092
55733	HHAT	HP:0002983	Micromelia	HP:0040281	ORPHA:1422
55733	HHAT	HP:0000400	Macrotia	HP:0040281	ORPHA:1422
55733	HHAT	HP:0000486	Strabismus	HP:0040282	ORPHA:1422
55733	HHAT	HP:0000490	Deeply set eye	HP:0040282	ORPHA:1422
55733	HHAT	HP:0000506	Telecanthus	HP:0040281	ORPHA:1422
55733	HHAT	HP:0000582	Upslanted palpebral fissure	4/4	OMIM:600092
55733	HHAT	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:1422
55733	HHAT	HP:0000588	Optic disc coloboma	2/2	OMIM:600092
55733	HHAT	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:1422
55737	VPS35	HP:0001268	Mental deterioration	HP:0040283	ORPHA:411602
55737	VPS35	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	HP:0040282	ORPHA:411602
55737	VPS35	HP:0001332	Dystonia	HP:0040283	ORPHA:411602
55737	VPS35	HP:0001337	Tremor	-	OMIM:614203
55737	VPS35	HP:0000006	Autosomal dominant inheritance	-	OMIM:614203
55737	VPS35	HP:0001300	Parkinsonism	-	OMIM:614203
55737	VPS35	HP:0001300	Parkinsonism	HP:0040280	ORPHA:411602
55737	VPS35	HP:0002015	Dysphagia	HP:0040282	ORPHA:411602
55737	VPS35	HP:0002067	Bradykinesia	-	OMIM:614203
55737	VPS35	HP:0002067	Bradykinesia	HP:0040283	ORPHA:411602
55737	VPS35	HP:0003394	Muscle spasm	HP:0040283	ORPHA:411602
55737	VPS35	HP:0002063	Rigidity	-	OMIM:614203
55737	VPS35	HP:0002063	Rigidity	HP:0040283	ORPHA:411602
55737	VPS35	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:411602
55737	VPS35	HP:0002171	Gliosis	HP:0040283	ORPHA:411602
55737	VPS35	HP:0002172	Postural instability	-	OMIM:614203
55737	VPS35	HP:0002172	Postural instability	HP:0040283	ORPHA:411602
55737	VPS35	HP:0003581	Adult onset	-	OMIM:614203
55737	VPS35	HP:0100710	Impulsivity	HP:0040283	ORPHA:411602
55737	VPS35	HP:0100753	Schizophrenia	HP:0040284	ORPHA:411602
55737	VPS35	HP:0002367	Visual hallucination	HP:0040283	ORPHA:411602
55737	VPS35	HP:0002362	Shuffling gait	HP:0040283	ORPHA:411602
55737	VPS35	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:411602
55737	VPS35	HP:0002359	Frequent falls	HP:0040282	ORPHA:411602
55737	VPS35	HP:0002322	Resting tremor	-	OMIM:614203
55737	VPS35	HP:0002322	Resting tremor	HP:0040282	ORPHA:411602
55737	VPS35	HP:0100660	Dyskinesia	-	OMIM:614203
55737	VPS35	HP:0100660	Dyskinesia	HP:0040283	ORPHA:411602
55737	VPS35	HP:0002304	Akinesia	-	OMIM:614203
55737	VPS35	HP:0002304	Akinesia	HP:0040282	ORPHA:411602
55737	VPS35	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	HP:0040283	ORPHA:411602
55737	VPS35	HP:0000651	Diplopia	HP:0040282	ORPHA:411602
55737	VPS35	HP:0000744	Low frustration tolerance	HP:0040283	ORPHA:411602
55737	VPS35	HP:0000741	Apathy	HP:0040283	ORPHA:411602
55737	VPS35	HP:0000716	Depression	HP:0040283	ORPHA:411602
55737	VPS35	HP:0000713	Agitation	HP:0040283	ORPHA:411602
55737	VPS35	HP:0000726	Dementia	HP:0040284	ORPHA:411602
55737	VPS35	HP:0004409	Hyposmia	HP:0040282	ORPHA:411602
55737	VPS35	HP:0100315	Lewy bodies	HP:0040283	ORPHA:411602
55737	VPS35	HP:0031435	Monotonic speech	HP:0040283	ORPHA:411602
55737	VPS35	HP:0000338	Hypomimic face	HP:0040283	ORPHA:411602
55737	VPS35	HP:0005340	Spastic/hyperactive bladder	HP:0040282	ORPHA:411602
55737	VPS35	HP:0012450	Chronic constipation	HP:0040282	ORPHA:411602
55737	VPS35	HP:0001824	Weight loss	HP:0040283	ORPHA:411602
55739	NAXD	HP:0007325	Generalized dystonia	1/6	OMIM:618321
55739	NAXD	HP:0008619	Bilateral sensorineural hearing impairment	1/6	OMIM:618321
55739	NAXD	HP:0001298	Encephalopathy	6/6	OMIM:618321
55739	NAXD	HP:0001254	Lethargy	2/6	OMIM:618321
55739	NAXD	HP:0001250	Seizure	1/6	OMIM:618321
55739	NAXD	HP:0001251	Ataxia	1/6	OMIM:618321
55739	NAXD	HP:0001263	Global developmental delay	2/6	OMIM:618321
55739	NAXD	HP:0002572	Episodic vomiting	1/6	OMIM:618321
55739	NAXD	HP:0002521	Hypsarrhythmia	1/6	OMIM:618321
55739	NAXD	HP:0002510	Spastic tetraplegia	1/6	OMIM:618321
55739	NAXD	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:618321
55739	NAXD	HP:0003819	Death in childhood	6/6	OMIM:618321
55739	NAXD	HP:0001332	Dystonia	1/6	OMIM:618321
55739	NAXD	HP:0000007	Autosomal recessive inheritance	-	OMIM:618321
55739	NAXD	HP:0001336	Myoclonus	1/6	OMIM:618321
55739	NAXD	HP:0008936	Axial hypotonia	1/6	OMIM:618321
55739	NAXD	HP:0002014	Diarrhea	1/6	OMIM:618321
55739	NAXD	HP:0002013	Vomiting	2/6	OMIM:618321
55739	NAXD	HP:0002066	Gait ataxia	1/6	OMIM:618321
55739	NAXD	HP:0002072	Chorea	1/6	OMIM:618321
55739	NAXD	HP:0002059	Cerebral atrophy	2/6	OMIM:618321
55739	NAXD	HP:0002151	Increased circulating lactate concentration	1/6	OMIM:618321
55739	NAXD	HP:0002119	Ventriculomegaly	1/6	OMIM:618321
55739	NAXD	HP:0002180	Neurodegeneration	-	OMIM:618321
55739	NAXD	HP:0002181	Cerebral edema	-	OMIM:618321
55739	NAXD	HP:0002171	Gliosis	-	OMIM:618321
55739	NAXD	HP:0003593	Infantile onset	3/6	OMIM:618321
55739	NAXD	HP:0002376	Developmental regression	4/6	OMIM:618321
55739	NAXD	HP:0002371	Loss of speech	-	OMIM:618321
55739	NAXD	HP:0010783	Erythema	1/6	OMIM:618321
55739	NAXD	HP:0002307	Drooling	1/6	OMIM:618321
55739	NAXD	HP:0001954	Recurrent fever	1/6	OMIM:618321
55739	NAXD	HP:0000602	Ophthalmoplegia	2/6	OMIM:618321
55739	NAXD	HP:0000737	Irritability	1/6	OMIM:618321
55739	NAXD	HP:0000750	Delayed speech and language development	1/6	OMIM:618321
55739	NAXD	HP:0000718	Aggressive behavior	1/6	OMIM:618321
55739	NAXD	HP:0000708	Atypical behavior	1/6	OMIM:618321
55739	NAXD	HP:0011463	Childhood onset	3/6	OMIM:618321
55739	NAXD	HP:0000988	Skin rash	6/6	OMIM:618321
55739	NAXD	HP:0008066	Abnormal blistering of the skin	1/6	OMIM:618321
55739	NAXD	HP:0001649	Tachycardia	1/6	OMIM:618321
55739	NAXD	HP:0001644	Dilated cardiomyopathy	1/6	OMIM:618321
55739	NAXD	HP:0001712	Left ventricular hypertrophy	1/6	OMIM:618321
55739	NAXD	HP:0012469	Infantile spasms	1/6	OMIM:618321
55739	NAXD	HP:0000518	Cataract	1/6	OMIM:618321
55739	NAXD	HP:0001876	Pancytopenia	3/6	OMIM:618321
55746	NUP133	HP:0001181	Adducted thumb	HP:0040283	ORPHA:2065
55746	NUP133	HP:0003774	Stage 5 chronic kidney disease	4/4	OMIM:618349
55746	NUP133	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
55746	NUP133	HP:0003774	Stage 5 chronic kidney disease	3/3	OMIM:618177
55746	NUP133	HP:0002410	Aqueductal stenosis	HP:0040283	ORPHA:2065
55746	NUP133	HP:0001276	Hypertonia	HP:0040283	ORPHA:2065
55746	NUP133	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
55746	NUP133	HP:0001250	Seizure	3/4	OMIM:618349
55746	NUP133	HP:0001250	Seizure	HP:0040282	ORPHA:2065
55746	NUP133	HP:0001252	Hypotonia	4/4	OMIM:618349
55746	NUP133	HP:0001252	Hypotonia	HP:0040283	ORPHA:2065
55746	NUP133	HP:0001263	Global developmental delay	4/4	OMIM:618349
55746	NUP133	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2065
55746	NUP133	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:2065
55746	NUP133	HP:0000097	Focal segmental glomerulosclerosis	3/3	OMIM:618349
55746	NUP133	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
55746	NUP133	HP:0000097	Focal segmental glomerulosclerosis	2/2	OMIM:618177
55746	NUP133	HP:0000093	Proteinuria	4/4	OMIM:618349
55746	NUP133	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
55746	NUP133	HP:0000093	Proteinuria	-	OMIM:618177
55746	NUP133	HP:0000093	Proteinuria	HP:0040281	ORPHA:2065
55746	NUP133	HP:0000092	Renal tubular atrophy	-	OMIM:618349
55746	NUP133	HP:0000007	Autosomal recessive inheritance	-	OMIM:618349
55746	NUP133	HP:0000007	Autosomal recessive inheritance	-	OMIM:618177
55746	NUP133	HP:0001302	Pachygyria	HP:0040282	ORPHA:2065
55746	NUP133	HP:0001317	Abnormal cerebellum morphology	-	OMIM:618349
55746	NUP133	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:2065
55746	NUP133	HP:0006297	Enamel hypoplasia	2/4	OMIM:618349
55746	NUP133	HP:0000100	Nephrotic syndrome	4/4	OMIM:618349
55746	NUP133	HP:0000100	Nephrotic syndrome	HP:0040281	ORPHA:2065
55746	NUP133	HP:0000112	Nephropathy	HP:0040281	ORPHA:2065
55746	NUP133	HP:0002036	Hiatus hernia	HP:0040282	ORPHA:2065
55746	NUP133	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
55746	NUP133	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
55746	NUP133	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:2065
55746	NUP133	HP:0002120	Cerebral cortical atrophy	1/1	OMIM:618349
55746	NUP133	HP:0002188	Delayed CNS myelination	1/3	OMIM:618349
55746	NUP133	HP:0002187	Intellectual disability, profound	4/4	OMIM:618349
55746	NUP133	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2065
55746	NUP133	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:2065
55746	NUP133	HP:0100720	Hypoplasia of the ear cartilage	HP:0040281	ORPHA:2065
55746	NUP133	HP:0032046	Focal cortical dysplasia	1/3	OMIM:618349
55746	NUP133	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
55746	NUP133	HP:0003676	Progressive	-	OMIM:618177
55746	NUP133	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2065
55746	NUP133	HP:0002315	Headache	HP:0040283	ORPHA:656
55746	NUP133	HP:0003623	Neonatal onset	1/4	OMIM:618349
55746	NUP133	HP:0003621	Juvenile onset	2/3	OMIM:618177
55746	NUP133	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
55746	NUP133	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
55746	NUP133	HP:0001945	Fever	HP:0040283	ORPHA:656
55746	NUP133	HP:0000601	Hypotelorism	HP:0040283	ORPHA:2065
55746	NUP133	HP:0004322	Short stature	HP:0040282	ORPHA:2065
55746	NUP133	HP:0003073	Hypoalbuminemia	-	OMIM:618349
55746	NUP133	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
55746	NUP133	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:2065
55746	NUP133	HP:0000737	Irritability	HP:0040283	ORPHA:656
55746	NUP133	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
55746	NUP133	HP:0011463	Childhood onset	3/4	OMIM:618349
55746	NUP133	HP:0011463	Childhood onset	1/3	OMIM:618177
55746	NUP133	HP:0000790	Hematuria	-	OMIM:618349
55746	NUP133	HP:0000969	Edema	HP:0040281	ORPHA:656
55746	NUP133	HP:0005108	Abnormal intervertebral disk morphology	HP:0040283	ORPHA:2065
55746	NUP133	HP:0000252	Microcephaly	1/4	OMIM:618349
55746	NUP133	HP:0000252	Microcephaly	HP:0040281	ORPHA:2065
55746	NUP133	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2065
55746	NUP133	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
55746	NUP133	HP:0000365	Hearing impairment	2/4	OMIM:618349
55746	NUP133	HP:0000341	Narrow forehead	2/4	OMIM:618349
55746	NUP133	HP:0000347	Micrognathia	HP:0040283	ORPHA:2065
55746	NUP133	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2065
55746	NUP133	HP:0001622	Premature birth	HP:0040282	ORPHA:2065
55746	NUP133	HP:0000400	Macrotia	HP:0040282	ORPHA:2065
55746	NUP133	HP:0000486	Strabismus	4/4	OMIM:618349
55746	NUP133	HP:0012444	Brain atrophy	3/3	OMIM:618349
55746	NUP133	HP:0012588	Steroid-resistant nephrotic syndrome	2/3	OMIM:618177
55746	NUP133	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
55750	AGK	HP:0001131	Corneal dystrophy	HP:0040283	ORPHA:1369
55750	AGK	HP:0003737	Mitochondrial myopathy	-	OMIM:212350
55750	AGK	HP:0001290	Generalized hypotonia	-	OMIM:212350
55750	AGK	HP:0001270	Motor delay	1/2	OMIM:212350
55750	AGK	HP:0001268	Mental deterioration	1/2	OMIM:212350
55750	AGK	HP:0001252	Hypotonia	-	OMIM:212350
55750	AGK	HP:0001324	Muscle weakness	-	OMIM:212350
55750	AGK	HP:0000007	Autosomal recessive inheritance	-	OMIM:614691
55750	AGK	HP:0000007	Autosomal recessive inheritance	-	OMIM:212350
55750	AGK	HP:0003324	Generalized muscle weakness	1/2	OMIM:212350
55750	AGK	HP:0002092	Pulmonary arterial hypertension	1/2	OMIM:212350
55750	AGK	HP:0002093	Respiratory insufficiency	1/2	OMIM:212350
55750	AGK	HP:0003388	Easy fatigability	-	OMIM:212350
55750	AGK	HP:0002151	Increased circulating lactate concentration	-	OMIM:212350
55750	AGK	HP:0011924	Decreased activity of mitochondrial complex III	2/2	OMIM:212350
55750	AGK	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:212350
55750	AGK	HP:0008209	Premature ovarian insufficiency	1/2	OMIM:212350
55750	AGK	HP:0003593	Infantile onset	1/2	OMIM:212350
55750	AGK	HP:0003577	Congenital onset	3/3	OMIM:614691
55750	AGK	HP:0003546	Exercise intolerance	-	OMIM:212350
55750	AGK	HP:0003535	3-Methylglutaconic aciduria	-	OMIM:212350
55750	AGK	HP:0008347	Decreased activity of mitochondrial complex IV	2/2	OMIM:212350
55750	AGK	HP:0003623	Neonatal onset	1/2	OMIM:212350
55750	AGK	HP:0004901	Exercise-induced lactic acidemia	-	OMIM:212350
55750	AGK	HP:0000639	Nystagmus	-	OMIM:212350
55750	AGK	HP:0000639	Nystagmus	HP:0040281	ORPHA:1369
55750	AGK	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	2/2	OMIM:212350
55750	AGK	HP:0003198	Myopathy	HP:0040281	ORPHA:1369
55750	AGK	HP:0003198	Myopathy	-	OMIM:212350
55750	AGK	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:1369
55750	AGK	HP:0003128	Lactic acidosis	2/2	OMIM:212350
55750	AGK	HP:0000938	Osteopenia	1/2	OMIM:212350
55750	AGK	HP:0001510	Growth delay	-	OMIM:212350
55750	AGK	HP:0012378	Fatigue	-	OMIM:212350
55750	AGK	HP:0001695	Cardiac arrest	1/2	OMIM:212350
55750	AGK	HP:0001645	Sudden cardiac death	1/2	OMIM:212350
55750	AGK	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:1369
55750	AGK	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:212350
55750	AGK	HP:0000486	Strabismus	-	OMIM:212350
55750	AGK	HP:0000486	Strabismus	HP:0040281	ORPHA:1369
55750	AGK	HP:0000518	Cataract	2/2	OMIM:212350
55750	AGK	HP:0000518	Cataract	HP:0040281	ORPHA:1369
55750	AGK	HP:0000519	Developmental cataract	-	OMIM:212350
55750	AGK	HP:0000519	Developmental cataract	3/3	OMIM:614691
55750	AGK	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:1369
55750	AGK	HP:0000501	Glaucoma	HP:0040283	ORPHA:1369
55750	AGK	HP:0000501	Glaucoma	1/2	OMIM:212350
55750	AGK	HP:0001873	Thrombocytopenia	1/2	OMIM:212350
55750	AGK	HP:0000545	Myopia	-	OMIM:212350
55750	AGK	HP:0000545	Myopia	HP:0040282	ORPHA:1369
55755	CDK5RAP2	HP:0002472	Small cerebral cortex	-	OMIM:604804
55755	CDK5RAP2	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
55755	CDK5RAP2	HP:0009879	Simplified gyral pattern	1/1	OMIM:604804
55755	CDK5RAP2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
55755	CDK5RAP2	HP:0001263	Global developmental delay	1/1	OMIM:604804
55755	CDK5RAP2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
55755	CDK5RAP2	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
55755	CDK5RAP2	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
55755	CDK5RAP2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
55755	CDK5RAP2	HP:0001338	Partial agenesis of the corpus callosum	1/1	OMIM:604804
55755	CDK5RAP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:604804
55755	CDK5RAP2	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
55755	CDK5RAP2	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
55755	CDK5RAP2	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
55755	CDK5RAP2	HP:0003577	Congenital onset	2/2	OMIM:604804
55755	CDK5RAP2	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
55755	CDK5RAP2	HP:0002342	Intellectual disability, moderate	1/1	OMIM:604804
55755	CDK5RAP2	HP:0000687	Widely spaced teeth	1/1	OMIM:604804
55755	CDK5RAP2	HP:0004322	Short stature	1/1	OMIM:604804
55755	CDK5RAP2	HP:0004322	Short stature	HP:0040281	ORPHA:2512
55755	CDK5RAP2	HP:0011451	Primary microcephaly	2/2	OMIM:604804
55755	CDK5RAP2	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
55755	CDK5RAP2	HP:0000252	Microcephaly	-	OMIM:604804
55755	CDK5RAP2	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
55755	CDK5RAP2	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
55755	CDK5RAP2	HP:0001510	Growth delay	1/1	OMIM:604804
55755	CDK5RAP2	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
55755	CDK5RAP2	HP:0000340	Sloping forehead	1/1	OMIM:604804
55755	CDK5RAP2	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
55755	CDK5RAP2	HP:0000407	Sensorineural hearing impairment	0/1	OMIM:604804
55755	CDK5RAP2	HP:0000448	Prominent nose	1/1	OMIM:604804
55755	CDK5RAP2	HP:0000410	Mixed hearing impairment	1/1	OMIM:604804
55755	CDK5RAP2	HP:0000520	Proptosis	1/1	OMIM:604804
55755	CDK5RAP2	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
55764	IFT122	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1515
55764	IFT122	HP:0001156	Brachydactyly	11/11	OMIM:218330
55764	IFT122	HP:0003774	Stage 5 chronic kidney disease	1/2	OMIM:218330
55764	IFT122	HP:0009880	Broad distal phalanges of all fingers	-	OMIM:218330
55764	IFT122	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:1515
55764	IFT122	HP:0009882	Short distal phalanx of finger	-	OMIM:218330
55764	IFT122	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55764	IFT122	HP:0001293	Cranial nerve compression	-	OMIM:131300
55764	IFT122	HP:0001252	Hypotonia	2/7	OMIM:615777
55764	IFT122	HP:0001249	Intellectual disability	0/11	OMIM:218330
55764	IFT122	HP:0001249	Intellectual disability	5/7	OMIM:615777
55764	IFT122	HP:0001263	Global developmental delay	-	OMIM:615777
55764	IFT122	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1515
55764	IFT122	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:1515
55764	IFT122	HP:0002515	Waddling gait	54/102	OMIM:131300
55764	IFT122	HP:0001399	Hepatic failure	-	OMIM:218330
55764	IFT122	HP:0001395	Hepatic fibrosis	1/10	OMIM:218330
55764	IFT122	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1515
55764	IFT122	HP:0001382	Joint hypermobility	-	OMIM:615777
55764	IFT122	HP:0001382	Joint hypermobility	-	OMIM:218330
55764	IFT122	HP:0000023	Inguinal hernia	4/11	OMIM:218330
55764	IFT122	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:1515
55764	IFT122	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55764	IFT122	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55764	IFT122	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55764	IFT122	HP:0001324	Muscle weakness	40/96	OMIM:131300
55764	IFT122	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55764	IFT122	HP:0000007	Autosomal recessive inheritance	-	OMIM:218330
55764	IFT122	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55764	IFT122	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55764	IFT122	HP:0002650	Scoliosis	12/14	OMIM:131300
55764	IFT122	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55764	IFT122	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55764	IFT122	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55764	IFT122	HP:0008905	Rhizomelia	HP:0040281	ORPHA:1515
55764	IFT122	HP:0008905	Rhizomelia	11/11	OMIM:218330
55764	IFT122	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55764	IFT122	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:1515
55764	IFT122	HP:0000175	Cleft palate	2/7	OMIM:615777
55764	IFT122	HP:0032612	Triphalangeal hallux	1/2	OMIM:218330
55764	IFT122	HP:0002705	High, narrow palate	-	OMIM:218330
55764	IFT122	HP:0006297	Enamel hypoplasia	-	OMIM:218330
55764	IFT122	HP:0001407	Hepatic cysts	-	OMIM:218330
55764	IFT122	HP:0002007	Frontal bossing	HP:0040281	ORPHA:1515
55764	IFT122	HP:0002007	Frontal bossing	-	OMIM:218330
55764	IFT122	HP:0003388	Easy fatigability	36/76	OMIM:131300
55764	IFT122	HP:0009466	Radial deviation of finger	-	OMIM:218330
55764	IFT122	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55764	IFT122	HP:0003577	Congenital onset	2/2	OMIM:218330
55764	IFT122	HP:0002240	Hepatomegaly	1/10	OMIM:218330
55764	IFT122	HP:0002217	Slow-growing hair	-	OMIM:218330
55764	IFT122	HP:0002213	Fine hair	-	OMIM:218330
55764	IFT122	HP:0002205	Recurrent respiratory infections	1/2	OMIM:218330
55764	IFT122	HP:0003510	Severe short stature	7/7	OMIM:615777
55764	IFT122	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:1515
55764	IFT122	HP:0002315	Headache	-	OMIM:131300
55764	IFT122	HP:0004976	Knee dislocation	6/7	OMIM:615777
55764	IFT122	HP:0009803	Short phalanx of finger	-	OMIM:615777
55764	IFT122	HP:0008499	High hypermetropia	HP:0040283	ORPHA:1515
55764	IFT122	HP:0009763	Limb pain	63/92	OMIM:131300
55764	IFT122	HP:0003621	Juvenile onset	-	OMIM:131300
55764	IFT122	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55764	IFT122	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:1515
55764	IFT122	HP:0005567	Renal magnesium wasting	-	OMIM:218330
55764	IFT122	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55764	IFT122	HP:0001970	Tubulointerstitial nephritis	-	OMIM:218330
55764	IFT122	HP:0012622	Chronic kidney disease	-	OMIM:218330
55764	IFT122	HP:0012623	Stage 1 chronic kidney disease	1/2	OMIM:218330
55764	IFT122	HP:0000639	Nystagmus	-	OMIM:218330
55764	IFT122	HP:0000639	Nystagmus	HP:0040283	ORPHA:1515
55764	IFT122	HP:6001056	Out-toeing	-	OMIM:131300
55764	IFT122	HP:0000651	Diplopia	-	OMIM:131300
55764	IFT122	HP:0001956	Truncal obesity	2/7	OMIM:615777
55764	IFT122	HP:0000601	Hypotelorism	HP:0040282	ORPHA:1515
55764	IFT122	HP:0000601	Hypotelorism	-	OMIM:218330
55764	IFT122	HP:0001903	Anemia	HP:0040283	OMIM:131300
55764	IFT122	HP:0010049	Short metacarpal	-	OMIM:615777
55764	IFT122	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:1515
55764	IFT122	HP:0000679	Taurodontia	HP:0040283	ORPHA:1515
55764	IFT122	HP:0000678	Dental crowding	-	OMIM:615777
55764	IFT122	HP:0000674	Anodontia	-	OMIM:218330
55764	IFT122	HP:0000691	Microdontia	HP:0040281	ORPHA:1515
55764	IFT122	HP:0000691	Microdontia	-	OMIM:218330
55764	IFT122	HP:0000687	Widely spaced teeth	-	OMIM:218330
55764	IFT122	HP:0000670	Carious teeth	-	OMIM:131300
55764	IFT122	HP:0011304	Broad thumb	2/7	OMIM:615777
55764	IFT122	HP:0000668	Hypodontia	HP:0040282	ORPHA:1515
55764	IFT122	HP:0000668	Hypodontia	-	OMIM:615777
55764	IFT122	HP:0000668	Hypodontia	-	OMIM:218330
55764	IFT122	HP:0000664	Synophrys	-	OMIM:615777
55764	IFT122	HP:0003071	Flattened epiphysis	-	OMIM:218330
55764	IFT122	HP:0004396	Poor appetite	-	OMIM:131300
55764	IFT122	HP:0003038	Fibular hypoplasia	-	OMIM:218330
55764	IFT122	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55764	IFT122	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55764	IFT122	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55764	IFT122	HP:0003026	Short long bone	7/7	OMIM:615777
55764	IFT122	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55764	IFT122	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:1515
55764	IFT122	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55764	IFT122	HP:0000767	Pectus excavatum	-	OMIM:218330
55764	IFT122	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55764	IFT122	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55764	IFT122	HP:0000750	Delayed speech and language development	-	OMIM:615777
55764	IFT122	HP:0011461	Fetal onset	7/7	OMIM:615777
55764	IFT122	HP:0000774	Narrow chest	HP:0040281	ORPHA:1515
55764	IFT122	HP:0000774	Narrow chest	2/7	OMIM:615777
55764	IFT122	HP:0000774	Narrow chest	11/11	OMIM:218330
55764	IFT122	HP:0000773	Short ribs	-	OMIM:218330
55764	IFT122	HP:0004442	Sagittal craniosynostosis	-	OMIM:218330
55764	IFT122	HP:0030799	Scaphocephaly	-	OMIM:218330
55764	IFT122	HP:0000926	Platyspondyly	1/7	OMIM:615777
55764	IFT122	HP:0003180	Flat acetabular roof	-	OMIM:615777
55764	IFT122	HP:0004482	Relative macrocephaly	-	OMIM:615777
55764	IFT122	HP:0005792	Short humerus	-	OMIM:218330
55764	IFT122	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55764	IFT122	HP:0000823	Delayed puberty	-	OMIM:131300
55764	IFT122	HP:0000894	Short clavicles	-	OMIM:615777
55764	IFT122	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55764	IFT122	HP:0010306	Short thorax	11/11	OMIM:218330
55764	IFT122	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55764	IFT122	HP:0000954	Single transverse palmar crease	-	OMIM:218330
55764	IFT122	HP:0000968	Ectodermal dysplasia	-	OMIM:218330
55764	IFT122	HP:0000939	Osteoporosis	HP:0040281	ORPHA:1515
55764	IFT122	HP:0000939	Osteoporosis	-	OMIM:218330
55764	IFT122	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1515
55764	IFT122	HP:0000940	Abnormal diaphysis morphology	HP:0040281	ORPHA:1515
55764	IFT122	HP:0008070	Sparse hair	HP:0040281	ORPHA:1515
55764	IFT122	HP:0008070	Sparse hair	10/11	OMIM:218330
55764	IFT122	HP:0000286	Epicanthus	-	OMIM:218330
55764	IFT122	HP:0000286	Epicanthus	HP:0040281	ORPHA:1515
55764	IFT122	HP:0000286	Epicanthus	1/7	OMIM:615777
55764	IFT122	HP:0000280	Coarse facial features	2/7	OMIM:615777
55764	IFT122	HP:0000293	Full cheeks	2/2	OMIM:218330
55764	IFT122	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:1515
55764	IFT122	HP:0000268	Dolichocephaly	12/13	OMIM:218330
55764	IFT122	HP:0000269	Prominent occiput	HP:0040281	ORPHA:1515
55764	IFT122	HP:0002827	Hip dislocation	3/7	OMIM:615777
55764	IFT122	HP:0030084	Clinodactyly	-	OMIM:218330
55764	IFT122	HP:0000252	Microcephaly	-	OMIM:615777
55764	IFT122	HP:0000218	High palate	-	OMIM:218330
55764	IFT122	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:1515
55764	IFT122	HP:0000232	Everted lower lip vermilion	-	OMIM:218330
55764	IFT122	HP:0002857	Genu valgum	-	OMIM:131300
55764	IFT122	HP:0001538	Protuberant abdomen	2/2	OMIM:218330
55764	IFT122	HP:0001533	Slender build	-	OMIM:131300
55764	IFT122	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55764	IFT122	HP:0007807	Optic nerve compression	-	OMIM:131300
55764	IFT122	HP:0012368	Flat face	7/7	OMIM:615777
55764	IFT122	HP:0006563	Malformation of the hepatic ductal plate	-	OMIM:218330
55764	IFT122	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55764	IFT122	HP:0002901	Hypocalcemia	-	OMIM:218330
55764	IFT122	HP:0000365	Hearing impairment	10/67	OMIM:131300
55764	IFT122	HP:0000369	Low-set ears	2/2	OMIM:218330
55764	IFT122	HP:0000343	Long philtrum	1/7	OMIM:615777
55764	IFT122	HP:0011001	Increased bone mineral density	-	OMIM:131300
55764	IFT122	HP:0000348	High forehead	2/2	OMIM:218330
55764	IFT122	HP:0001647	Bicuspid aortic valve	-	OMIM:218330
55764	IFT122	HP:0000311	Round face	2/7	OMIM:615777
55764	IFT122	HP:0002970	Genu varum	-	OMIM:615777
55764	IFT122	HP:0000303	Mandibular prognathia	-	OMIM:131300
55764	IFT122	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55764	IFT122	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1515
55764	IFT122	HP:0000463	Anteverted nares	-	OMIM:218330
55764	IFT122	HP:0000470	Short neck	1/7	OMIM:615777
55764	IFT122	HP:0001799	Short nail	-	OMIM:218330
55764	IFT122	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55764	IFT122	HP:0001763	Pes planus	1/7	OMIM:615777
55764	IFT122	HP:0000411	Protruding ear	2/2	OMIM:218330
55764	IFT122	HP:0000431	Wide nasal bridge	2/2	OMIM:218330
55764	IFT122	HP:0001840	Metatarsus adductus	-	OMIM:615777
55764	IFT122	HP:0000520	Proptosis	2/4	OMIM:131300
55764	IFT122	HP:0000520	Proptosis	7/7	OMIM:615777
55764	IFT122	HP:0001837	Broad toe	-	OMIM:218330
55764	IFT122	HP:0000506	Telecanthus	2/2	OMIM:218330
55764	IFT122	HP:0001831	Short toe	-	OMIM:218330
55764	IFT122	HP:0001816	Thin nail	-	OMIM:218330
55764	IFT122	HP:0000592	Blue sclerae	2/7	OMIM:615777
55764	IFT122	HP:0000556	Retinal dystrophy	1/10	OMIM:218330
55764	IFT122	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55764	IFT122	HP:0012514	Lower limb pain	4/4	OMIM:131300
55764	IFT122	HP:0000545	Myopia	HP:0040283	ORPHA:1515
55764	IFT122	HP:0000545	Myopia	-	OMIM:218330
55765	INAVA	HP:0003829	Typified by incomplete penetrance	-	OMIM:618077
55765	INAVA	HP:0000006	Autosomal dominant inheritance	-	OMIM:618077
55765	INAVA	HP:0100280	Crohn's disease	-	OMIM:618077
55765	INAVA	HP:0100279	Ulcerative colitis	-	OMIM:618077
55768	NGLY1	HP:0002487	Hyperkinetic movements	1/2	OMIM:615273
55768	NGLY1	HP:0002487	Hyperkinetic movements	HP:0040281	ORPHA:404454
55768	NGLY1	HP:0002465	Poor speech	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0003785	Decreased CSF homovanillic acid concentration	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0009938	Sunken cheeks	-	OMIM:615273
55768	NGLY1	HP:0002421	Poor head control	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0001271	Polyneuropathy	14/14	OMIM:615273
55768	NGLY1	HP:0001250	Seizure	12/21	OMIM:615273
55768	NGLY1	HP:0001252	Hypotonia	13/13	OMIM:615273
55768	NGLY1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0001249	Intellectual disability	4/4	OMIM:615273
55768	NGLY1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0001265	Hyporeflexia	6/8	OMIM:615273
55768	NGLY1	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0001263	Global developmental delay	21/21	OMIM:615273
55768	NGLY1	HP:0100899	Sclerosis of finger phalanx	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0031051	Tarsal sclerosis	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0002540	Inability to walk	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0003834	Shoulder dislocation	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0031008	Lingual dystonia	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0012070	Chondroitin sulfate excretion in urine	1/1	OMIM:615273
55768	NGLY1	HP:0012069	Keratan sulfate excretion in urine	1/1	OMIM:615273
55768	NGLY1	HP:0001395	Hepatic fibrosis	1/4	OMIM:615273
55768	NGLY1	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0025336	Delayed ability to sit	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0031146	Impaired oral bolus formation	10/11	OMIM:615273
55768	NGLY1	HP:0031146	Impaired oral bolus formation	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0031162	Impaired oropharyngeal swallow response	11/11	OMIM:615273
55768	NGLY1	HP:0031162	Impaired oropharyngeal swallow response	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0001332	Dystonia	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0002659	Increased susceptibility to fractures	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0001344	Absent speech	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0002673	Coxa valga	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615273
55768	NGLY1	HP:0001336	Myoclonus	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0001336	Myoclonus	1/4	OMIM:615273
55768	NGLY1	HP:0001310	Dysmetria	-	OMIM:615273
55768	NGLY1	HP:0002650	Scoliosis	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0002650	Scoliosis	1/2	OMIM:615273
55768	NGLY1	HP:0000194	Open mouth	1/4	OMIM:615273
55768	NGLY1	HP:0025460	High myoinositol in brain by MRS	22/22	OMIM:615273
55768	NGLY1	HP:0012153	Hypotriglyceridemia	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0025458	Decreased CSF albumin concentration	-	OMIM:615273
55768	NGLY1	HP:0025458	Decreased CSF albumin concentration	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0025457	Decreased CSF protein concentration	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0001488	Bilateral ptosis	HP:0040284	ORPHA:404454
55768	NGLY1	HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration	-	OMIM:615273
55768	NGLY1	HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0008954	Intrinsic hand muscle atrophy	1/2	OMIM:615273
55768	NGLY1	HP:0006254	Elevated circulating alpha-fetoprotein concentration	3/5	OMIM:615273
55768	NGLY1	HP:0025401	Staring gaze	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0001414	Microvesicular hepatic steatosis	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0001413	Micronodular cirrhosis	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0030978	Decreased CSF/serum albumin ratio	7/9	OMIM:615273
55768	NGLY1	HP:0003348	Hyperalaninemia	1/4	OMIM:615273
55768	NGLY1	HP:0030980	Reduced brain glutamine level by MRS	12/12	OMIM:615273
55768	NGLY1	HP:0030906	Suck reflex	10/11	OMIM:615273
55768	NGLY1	HP:0030906	Suck reflex	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0011800	Midface retrusion	1/4	OMIM:615273
55768	NGLY1	HP:0002098	Respiratory distress	1/2	OMIM:615273
55768	NGLY1	HP:0002072	Chorea	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0002072	Chorea	-	OMIM:615273
55768	NGLY1	HP:0002059	Cerebral atrophy	HP:0040281	ORPHA:404454
55768	NGLY1	HP:0008151	Prolonged prothrombin time	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0002151	Increased circulating lactate concentration	2/4	OMIM:615273
55768	NGLY1	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0003448	Decreased sensory nerve conduction velocity	2/2	OMIM:615273
55768	NGLY1	HP:0003447	Axonal loss	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0011900	Hypofibrinogenemia	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0002188	Delayed CNS myelination	1/1	OMIM:615273
55768	NGLY1	HP:0002187	Intellectual disability, profound	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0002159	Heparan sulfate excretion in urine	1/1	OMIM:615273
55768	NGLY1	HP:0002171	Gliosis	1/1	OMIM:615273
55768	NGLY1	HP:0002171	Gliosis	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0010536	Central sleep apnea	1/11	OMIM:615273
55768	NGLY1	HP:0003593	Infantile onset	12/12	OMIM:615273
55768	NGLY1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0002240	Hepatomegaly	1/2	OMIM:615273
55768	NGLY1	HP:0003563	Decreased LDL cholesterol concentration	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0002205	Recurrent respiratory infections	1/2	OMIM:615273
55768	NGLY1	HP:0003535	3-Methylglutaconic aciduria	2/4	OMIM:615273
55768	NGLY1	HP:0200136	Oral-pharyngeal dysphagia	2/2	OMIM:615273
55768	NGLY1	HP:0007021	Pain insensitivity	2/2	OMIM:615273
55768	NGLY1	HP:0011954	Nodular regenerative hyperplasia of liver	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0020037	Astasia	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0002376	Developmental regression	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0002345	Action tremor	-	OMIM:615273
55768	NGLY1	HP:0002345	Action tremor	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0010821	Focal emotional seizure with laughing	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0010819	Atonic seizure	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0009830	Peripheral neuropathy	2/3	OMIM:615273
55768	NGLY1	HP:0200055	Small hand	4/5	OMIM:615273
55768	NGLY1	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:404454
55768	NGLY1	HP:0002305	Athetosis	-	OMIM:615273
55768	NGLY1	HP:0002305	Athetosis	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0005543	Reduced protein C activity	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0000633	Decreased lacrimation	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0000648	Optic atrophy	HP:0040284	ORPHA:404454
55768	NGLY1	HP:0001945	Fever	-	OMIM:615273
55768	NGLY1	HP:0001929	Reduced factor XI activity	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0004325	Decreased body weight	-	OMIM:615273
55768	NGLY1	HP:0004305	Involuntary movements	6/7	OMIM:615273
55768	NGLY1	HP:0003086	Acromesomelia	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0100022	Abnormality of movement	2/2	OMIM:615273
55768	NGLY1	HP:0012706	Elevated brain choline level by MRS	12/12	OMIM:615273
55768	NGLY1	HP:0012708	Reduced brain N-acetyl aspartate level by MRS	12/12	OMIM:615273
55768	NGLY1	HP:0000711	Restlessness	2/2	OMIM:615273
55768	NGLY1	HP:0011496	Corneal neovascularization	HP:0040284	ORPHA:404454
55768	NGLY1	HP:0003121	Limb joint contracture	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0012804	Corneal ulceration	1/4	OMIM:615273
55768	NGLY1	HP:0040209	Decreased CSF biopterin level	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0000975	Hyperhidrosis	1/2	OMIM:615273
55768	NGLY1	HP:0000954	Single transverse palmar crease	1/2	OMIM:615273
55768	NGLY1	HP:0000970	Anhidrosis	1/2	OMIM:615273
55768	NGLY1	HP:0000939	Osteoporosis	1/2	OMIM:615273
55768	NGLY1	HP:0033044	Motor regression	1/1	OMIM:615273
55768	NGLY1	HP:0000297	Facial hypotonia	12/12	OMIM:615273
55768	NGLY1	HP:0000297	Facial hypotonia	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0000275	Narrow face	-	OMIM:615273
55768	NGLY1	HP:0000252	Microcephaly	6/8	OMIM:615273
55768	NGLY1	HP:0000248	Brachycephaly	-	OMIM:615273
55768	NGLY1	HP:0030001	Lagophthalmos	HP:0040284	ORPHA:404454
55768	NGLY1	HP:0002870	Obstructive sleep apnea	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0001518	Small for gestational age	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0030194	Fatigable weakness of speech muscles	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0002910	Elevated circulating hepatic transaminase concentration	8/11	OMIM:615273
55768	NGLY1	HP:0002909	Generalized aminoaciduria	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0012340	Decreased resting energy expenditure	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0000369	Low-set ears	1/4	OMIM:615273
55768	NGLY1	HP:0000350	Small forehead	1/4	OMIM:615273
55768	NGLY1	HP:0032794	Myoclonic seizure	3/4	OMIM:615273
55768	NGLY1	HP:0000316	Hypertelorism	1/2	OMIM:615273
55768	NGLY1	HP:0000307	Pointed chin	1/4	OMIM:615273
55768	NGLY1	HP:0007957	Corneal opacity	2/2	OMIM:615273
55768	NGLY1	HP:0011167	Focal tonic seizure	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0000486	Strabismus	5/10	OMIM:615273
55768	NGLY1	HP:0012469	Infantile spasms	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0000463	Anteverted nares	-	OMIM:615273
55768	NGLY1	HP:0012448	Delayed myelination	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0012448	Delayed myelination	1/2	OMIM:615273
55768	NGLY1	HP:0012447	Abnormal myelination	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0012450	Chronic constipation	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0001771	Achilles tendon contracture	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0001773	Short foot	13/13	OMIM:615273
55768	NGLY1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0005484	Secondary microcephaly	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0000522	Alacrima	12/15	OMIM:615273
55768	NGLY1	HP:0000522	Alacrima	HP:0040282	ORPHA:404454
55768	NGLY1	HP:0000508	Ptosis	2/6	OMIM:615273
55768	NGLY1	HP:0000580	Pigmentary retinopathy	HP:0040284	ORPHA:404454
55768	NGLY1	HP:0000577	Exotropia	HP:0040284	ORPHA:404454
55768	NGLY1	HP:0000559	Corneal scarring	HP:0040283	ORPHA:404454
55768	NGLY1	HP:0012531	Pain	-	OMIM:615273
55768	NGLY1	HP:0012520	Dilation of Virchow-Robin spaces	1/1	OMIM:615273
55768	NGLY1	HP:0000548	Cone/cone-rod dystrophy	HP:0040284	ORPHA:404454
55768	NGLY1	HP:0000543	Optic disc pallor	HP:0040284	ORPHA:404454
55770	EXOC2	HP:0020206	Simple ear	1/3	OMIM:619306
55770	EXOC2	HP:0002419	Molar tooth sign on MRI	1/3	OMIM:619306
55770	EXOC2	HP:0001250	Seizure	1/3	OMIM:619306
55770	EXOC2	HP:0002510	Spastic tetraplegia	2/3	OMIM:619306
55770	EXOC2	HP:0025386	Bitemporal hollowing	1/3	OMIM:619306
55770	EXOC2	HP:0001371	Flexion contracture	2/3	OMIM:619306
55770	EXOC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619306
55770	EXOC2	HP:0001320	Cerebellar vermis hypoplasia	3/6	OMIM:619306
55770	EXOC2	HP:0001321	Cerebellar hypoplasia	1/3	OMIM:619306
55770	EXOC2	HP:0002079	Hypoplasia of the corpus callosum	1/3	OMIM:619306
55770	EXOC2	HP:0003429	CNS hypomyelination	1/3	OMIM:619306
55770	EXOC2	HP:0002198	Dilated fourth ventricle	1/3	OMIM:619306
55770	EXOC2	HP:0002263	Exaggerated cupid's bow	1/3	OMIM:619306
55770	EXOC2	HP:0003593	Infantile onset	1/3	OMIM:619306
55770	EXOC2	HP:0003577	Congenital onset	2/3	OMIM:619306
55770	EXOC2	HP:0010664	Fusion of the left and right thalami	1/3	OMIM:619306
55770	EXOC2	HP:0002365	Hypoplasia of the brainstem	1/3	OMIM:619306
55770	EXOC2	HP:0011344	Severe global developmental delay	2/3	OMIM:619306
55770	EXOC2	HP:0031913	Rhombencephalosynapsis	1/3	OMIM:619306
55770	EXOC2	HP:0030724	Central nervous system cyst	1/3	OMIM:619306
55770	EXOC2	HP:0000958	Dry skin	1/3	OMIM:619306
55770	EXOC2	HP:0007766	Optic disc hypoplasia	1/3	OMIM:619306
55770	EXOC2	HP:0000219	Thin upper lip vermilion	2/3	OMIM:619306
55770	EXOC2	HP:0002870	Obstructive sleep apnea	1/3	OMIM:619306
55770	EXOC2	HP:0000369	Low-set ears	1/3	OMIM:619306
55770	EXOC2	HP:0000340	Sloping forehead	2/3	OMIM:619306
55770	EXOC2	HP:0000343	Long philtrum	1/3	OMIM:619306
55770	EXOC2	HP:0000319	Smooth philtrum	1/3	OMIM:619306
55770	EXOC2	HP:0000316	Hypertelorism	2/3	OMIM:619306
55770	EXOC2	HP:0001629	Ventricular septal defect	1/3	OMIM:619306
55770	EXOC2	HP:0000300	Oval face	1/3	OMIM:619306
55770	EXOC2	HP:0006610	Wide intermamillary distance	1/3	OMIM:619306
55770	EXOC2	HP:0000437	Depressed nasal tip	2/3	OMIM:619306
55770	EXOC2	HP:0001747	Accessory spleen	1/3	OMIM:619306
55770	EXOC2	HP:0000431	Wide nasal bridge	1/3	OMIM:619306
55770	EXOC2	HP:0005484	Secondary microcephaly	2/3	OMIM:619306
55770	EXOC2	HP:0000582	Upslanted palpebral fissure	2/3	OMIM:619306
55773	TBC1D23	HP:0010864	Intellectual disability, severe	7/7	OMIM:617695
55773	TBC1D23	HP:0001290	Generalized hypotonia	-	OMIM:617695
55773	TBC1D23	HP:0001274	Agenesis of corpus callosum	1/4	OMIM:617695
55773	TBC1D23	HP:0001288	Gait disturbance	-	OMIM:617695
55773	TBC1D23	HP:0001250	Seizure	0/7	OMIM:617695
55773	TBC1D23	HP:0001251	Ataxia	-	OMIM:617695
55773	TBC1D23	HP:0001265	Hyporeflexia	-	OMIM:617695
55773	TBC1D23	HP:0001260	Dysarthria	-	OMIM:617695
55773	TBC1D23	HP:0001263	Global developmental delay	7/7	OMIM:617695
55773	TBC1D23	HP:0001257	Spasticity	7/7	OMIM:617695
55773	TBC1D23	HP:0002540	Inability to walk	-	OMIM:617695
55773	TBC1D23	HP:0000007	Autosomal recessive inheritance	-	OMIM:617695
55773	TBC1D23	HP:0001321	Cerebellar hypoplasia	4/4	OMIM:617695
55773	TBC1D23	HP:0012110	Hypoplasia of the pons	4/4	OMIM:617695
55773	TBC1D23	HP:0002023	Anal atresia	1/7	OMIM:617695
55773	TBC1D23	HP:0002015	Dysphagia	-	OMIM:617695
55773	TBC1D23	HP:0002079	Hypoplasia of the corpus callosum	2/4	OMIM:617695
55773	TBC1D23	HP:0002070	Limb ataxia	-	OMIM:617695
55773	TBC1D23	HP:0002136	Broad-based gait	-	OMIM:617695
55773	TBC1D23	HP:0003593	Infantile onset	6/7	OMIM:617695
55773	TBC1D23	HP:0003577	Congenital onset	1/7	OMIM:617695
55773	TBC1D23	HP:0100716	Self-injurious behavior	1/4	OMIM:617695
55773	TBC1D23	HP:0002205	Recurrent respiratory infections	-	OMIM:617695
55773	TBC1D23	HP:0007018	Attention deficit hyperactivity disorder	1/4	OMIM:617695
55773	TBC1D23	HP:0002370	Poor coordination	-	OMIM:617695
55773	TBC1D23	HP:0004325	Decreased body weight	-	OMIM:617695
55773	TBC1D23	HP:0004322	Short stature	-	OMIM:617695
55773	TBC1D23	HP:0000733	Motor stereotypy	4/4	OMIM:617695
55773	TBC1D23	HP:0000750	Delayed speech and language development	-	OMIM:617695
55773	TBC1D23	HP:0000729	Autistic behavior	2/4	OMIM:617695
55773	TBC1D23	HP:0000817	Reduced eye contact	-	OMIM:617695
55773	TBC1D23	HP:0040082	Happy demeanor	7/7	OMIM:617695
55773	TBC1D23	HP:0003202	Skeletal muscle atrophy	-	OMIM:617695
55773	TBC1D23	HP:0000252	Microcephaly	-	OMIM:617695
55773	TBC1D23	HP:0000400	Macrotia	7/7	OMIM:617695
55773	TBC1D23	HP:0000486	Strabismus	2/6	OMIM:617695
55773	TBC1D23	HP:0001763	Pes planus	2/7	OMIM:617695
55773	TBC1D23	HP:0000414	Bulbous nose	5/7	OMIM:617695
55773	TBC1D23	HP:0001762	Talipes equinovarus	1/7	OMIM:617695
55773	TBC1D23	HP:0000589	Coloboma	2/6	OMIM:617695
55773	TBC1D23	HP:0000565	Esotropia	-	OMIM:617695
55773	TBC1D23	HP:0000540	Hypermetropia	1/6	OMIM:617695
55775	TDP1	HP:0002495	Impaired vibratory sensation	3/3	OMIM:607250
55775	TDP1	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:94124
55775	TDP1	HP:0001272	Cerebellar atrophy	3/3	OMIM:607250
55775	TDP1	HP:0001284	Areflexia	HP:0040282	ORPHA:94124
55775	TDP1	HP:0001284	Areflexia	3/3	OMIM:607250
55775	TDP1	HP:0001250	Seizure	HP:0040283	ORPHA:94124
55775	TDP1	HP:0001250	Seizure	1/3	OMIM:607250
55775	TDP1	HP:0001251	Ataxia	HP:0040282	ORPHA:94124
55775	TDP1	HP:0001251	Ataxia	3/3	OMIM:607250
55775	TDP1	HP:0001249	Intellectual disability	-	ORPHA:94124
55775	TDP1	HP:0001249	Intellectual disability	0/3	OMIM:607250
55775	TDP1	HP:0001260	Dysarthria	3/3	OMIM:607250
55775	TDP1	HP:0002503	Spinocerebellar tract degeneration	HP:0040282	ORPHA:94124
55775	TDP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:607250
55775	TDP1	HP:0003376	Steppage gait	HP:0040282	ORPHA:94124
55775	TDP1	HP:0003376	Steppage gait	3/3	OMIM:607250
55775	TDP1	HP:0002059	Cerebral atrophy	1/3	OMIM:607250
55775	TDP1	HP:0003380	Decreased number of peripheral myelinated nerve fibers	1/1	OMIM:607250
55775	TDP1	HP:0003477	Peripheral axonal neuropathy	-	OMIM:607250
55775	TDP1	HP:0003431	Decreased motor nerve conduction velocity	1/3	OMIM:607250
55775	TDP1	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:94124
55775	TDP1	HP:0002283	Global brain atrophy	HP:0040282	ORPHA:94124
55775	TDP1	HP:0007021	Pain insensitivity	HP:0040282	ORPHA:94124
55775	TDP1	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:94124
55775	TDP1	HP:0003693	Distal amyotrophy	3/3	OMIM:607250
55775	TDP1	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:94124
55775	TDP1	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:94124
55775	TDP1	HP:0003621	Juvenile onset	3/3	OMIM:607250
55775	TDP1	HP:0006858	Impaired distal proprioception	3/3	OMIM:607250
55775	TDP1	HP:0006858	Impaired distal proprioception	HP:0040282	ORPHA:94124
55775	TDP1	HP:0006855	Cerebellar vermis atrophy	HP:0040282	ORPHA:94124
55775	TDP1	HP:0000640	Gaze-evoked nystagmus	HP:0040282	ORPHA:94124
55775	TDP1	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:94124
55775	TDP1	HP:0003073	Hypoalbuminemia	HP:0040282	ORPHA:94124
55775	TDP1	HP:0003073	Hypoalbuminemia	2/3	OMIM:607250
55775	TDP1	HP:0000763	Sensory neuropathy	-	OMIM:607250
55775	TDP1	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:94124
55775	TDP1	HP:0003124	Hypercholesterolemia	3/3	OMIM:607250
55775	TDP1	HP:0002936	Distal sensory impairment	3/3	OMIM:607250
55775	TDP1	HP:0001761	Pes cavus	HP:0040282	ORPHA:94124
55775	TDP1	HP:0001761	Pes cavus	3/3	OMIM:607250
55777	MBD5	HP:0002463	Language impairment	-	OMIM:156200
55777	MBD5	HP:0010864	Intellectual disability, severe	1/1	OMIM:156200
55777	MBD5	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:228402
55777	MBD5	HP:0008551	Microtia	-	OMIM:156200
55777	MBD5	HP:0003763	Bruxism	1/2	OMIM:156200
55777	MBD5	HP:0001270	Motor delay	2/2	OMIM:156200
55777	MBD5	HP:0001250	Seizure	2/2	OMIM:156200
55777	MBD5	HP:0001250	Seizure	HP:0040281	ORPHA:228402
55777	MBD5	HP:0001252	Hypotonia	HP:0040282	ORPHA:228402
55777	MBD5	HP:0001251	Ataxia	2/2	OMIM:156200
55777	MBD5	HP:0001251	Ataxia	HP:0040282	ORPHA:228402
55777	MBD5	HP:0001249	Intellectual disability	2/2	OMIM:156200
55777	MBD5	HP:0002591	Polyphagia	HP:0040282	ORPHA:228402
55777	MBD5	HP:0002591	Polyphagia	-	OMIM:156200
55777	MBD5	HP:0001263	Global developmental delay	1/2	OMIM:156200
55777	MBD5	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:228402
55777	MBD5	HP:0007333	Hypoplasia of the frontal lobes	1/2	OMIM:156200
55777	MBD5	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:228402
55777	MBD5	HP:0002553	Highly arched eyebrow	-	OMIM:156200
55777	MBD5	HP:0025336	Delayed ability to sit	1/2	OMIM:156200
55777	MBD5	HP:0000054	Micropenis	1/2	OMIM:156200
55777	MBD5	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:228402
55777	MBD5	HP:0001385	Hip dysplasia	1/2	OMIM:156200
55777	MBD5	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:228402
55777	MBD5	HP:0008897	Postnatal growth retardation	-	OMIM:156200
55777	MBD5	HP:0000006	Autosomal dominant inheritance	-	OMIM:156200
55777	MBD5	HP:0001320	Cerebellar vermis hypoplasia	1/2	OMIM:156200
55777	MBD5	HP:0002650	Scoliosis	1/2	OMIM:156200
55777	MBD5	HP:0000194	Open mouth	HP:0040282	ORPHA:228402
55777	MBD5	HP:0000194	Open mouth	-	OMIM:156200
55777	MBD5	HP:0000158	Macroglossia	1/2	OMIM:156200
55777	MBD5	HP:0000154	Wide mouth	2/2	OMIM:156200
55777	MBD5	HP:0410018	Recurrent ear infections	1/2	OMIM:156200
55777	MBD5	HP:0002714	Downturned corners of mouth	-	OMIM:156200
55777	MBD5	HP:0002020	Gastroesophageal reflux	1/2	OMIM:156200
55777	MBD5	HP:0002019	Constipation	HP:0040282	ORPHA:228402
55777	MBD5	HP:0002019	Constipation	2/2	OMIM:156200
55777	MBD5	HP:0002000	Short columella	1/2	OMIM:156200
55777	MBD5	HP:0002007	Frontal bossing	-	OMIM:156200
55777	MBD5	HP:0011800	Midface retrusion	1/2	OMIM:156200
55777	MBD5	HP:0002162	Low posterior hairline	1/2	OMIM:156200
55777	MBD5	HP:0003593	Infantile onset	2/2	OMIM:156200
55777	MBD5	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:228402
55777	MBD5	HP:0100716	Self-injurious behavior	-	OMIM:156200
55777	MBD5	HP:0002230	Generalized hirsutism	HP:0040282	ORPHA:228402
55777	MBD5	HP:0011968	Feeding difficulties	1/2	OMIM:156200
55777	MBD5	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:228402
55777	MBD5	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/1	OMIM:156200
55777	MBD5	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:228402
55777	MBD5	HP:0002307	Drooling	1/2	OMIM:156200
55777	MBD5	HP:0004209	Clinodactyly of the 5th finger	1/2	OMIM:156200
55777	MBD5	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:228402
55777	MBD5	HP:0004279	Short palm	HP:0040282	ORPHA:228402
55777	MBD5	HP:0004279	Short palm	1/2	OMIM:156200
55777	MBD5	HP:0000691	Microdontia	1/2	OMIM:156200
55777	MBD5	HP:0000687	Widely spaced teeth	1/2	OMIM:156200
55777	MBD5	HP:0000664	Synophrys	HP:0040282	ORPHA:228402
55777	MBD5	HP:0004322	Short stature	-	OMIM:156200
55777	MBD5	HP:0004322	Short stature	HP:0040282	ORPHA:228402
55777	MBD5	HP:0034187	Clavicular pseudarthrosis	1/2	OMIM:156200
55777	MBD5	HP:0000752	Hyperactivity	HP:0040282	ORPHA:228402
55777	MBD5	HP:0100023	Recurrent hand flapping	1/2	OMIM:156200
55777	MBD5	HP:0000739	Anxiety	1/2	OMIM:156200
55777	MBD5	HP:0000733	Motor stereotypy	HP:0040281	ORPHA:228402
55777	MBD5	HP:0000736	Short attention span	1/2	OMIM:156200
55777	MBD5	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:228402
55777	MBD5	HP:0000749	Paroxysmal bursts of laughter	HP:0040282	ORPHA:228402
55777	MBD5	HP:0000748	Inappropriate laughter	2/2	OMIM:156200
55777	MBD5	HP:0000718	Aggressive behavior	-	OMIM:156200
55777	MBD5	HP:0000729	Autistic behavior	1/2	OMIM:156200
55777	MBD5	HP:0012760	Reduced social responsiveness	1/1	OMIM:156200
55777	MBD5	HP:0003196	Short nose	-	OMIM:156200
55777	MBD5	HP:0000817	Reduced eye contact	1/2	OMIM:156200
55777	MBD5	HP:0010306	Short thorax	1/2	OMIM:156200
55777	MBD5	HP:0008081	Pes valgus	1/2	OMIM:156200
55777	MBD5	HP:0005819	Short middle phalanx of finger	1/2	OMIM:156200
55777	MBD5	HP:0000280	Coarse facial features	HP:0040282	ORPHA:228402
55777	MBD5	HP:0000278	Retrognathia	-	OMIM:156200
55777	MBD5	HP:0000272	Malar flattening	HP:0040282	ORPHA:228402
55777	MBD5	HP:0001572	Macrodontia	HP:0040283	ORPHA:228402
55777	MBD5	HP:0000252	Microcephaly	-	OMIM:156200
55777	MBD5	HP:0000252	Microcephaly	HP:0040282	ORPHA:228402
55777	MBD5	HP:0000248	Brachycephaly	HP:0040282	ORPHA:228402
55777	MBD5	HP:0000248	Brachycephaly	1/2	OMIM:156200
55777	MBD5	HP:0000219	Thin upper lip vermilion	-	OMIM:156200
55777	MBD5	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:228402
55777	MBD5	HP:0000232	Everted lower lip vermilion	1/2	OMIM:156200
55777	MBD5	HP:0001510	Growth delay	HP:0040282	ORPHA:228402
55777	MBD5	HP:0000378	Cupped ear	-	OMIM:156200
55777	MBD5	HP:0002937	Hemivertebrae	1/2	OMIM:156200
55777	MBD5	HP:0000369	Low-set ears	-	OMIM:156200
55777	MBD5	HP:0000337	Broad forehead	HP:0040282	ORPHA:228402
55777	MBD5	HP:0000337	Broad forehead	-	OMIM:156200
55777	MBD5	HP:0000347	Micrognathia	-	OMIM:156200
55777	MBD5	HP:0000316	Hypertelorism	1/2	OMIM:156200
55777	MBD5	HP:0000331	Short chin	-	OMIM:156200
55777	MBD5	HP:0000303	Mandibular prognathia	1/2	OMIM:156200
55777	MBD5	HP:0000483	Astigmatism	1/2	OMIM:156200
55777	MBD5	HP:0000457	Depressed nasal ridge	1/2	OMIM:156200
55777	MBD5	HP:0001773	Short foot	-	OMIM:156200
55777	MBD5	HP:0000448	Prominent nose	-	OMIM:156200
55777	MBD5	HP:0000414	Bulbous nose	-	OMIM:156200
55777	MBD5	HP:0000411	Protruding ear	-	OMIM:156200
55777	MBD5	HP:0005484	Secondary microcephaly	1/2	OMIM:156200
55777	MBD5	HP:0005445	Enlarged posterior fossa	1/2	OMIM:156200
55777	MBD5	HP:0000527	Long eyelashes	1/2	OMIM:156200
55777	MBD5	HP:0001852	Sandal gap	HP:0040282	ORPHA:228402
55777	MBD5	HP:0001852	Sandal gap	1/1	OMIM:156200
55777	MBD5	HP:0000505	Visual impairment	-	OMIM:156200
55777	MBD5	HP:0000574	Thick eyebrow	-	OMIM:156200
55777	MBD5	HP:0000565	Esotropia	-	OMIM:156200
55777	MBD5	HP:0000540	Hypermetropia	1/2	OMIM:156200
55777	MBD5	HP:0000545	Myopia	-	OMIM:156200
55779	CFAP44	HP:0000007	Autosomal recessive inheritance	-	OMIM:617593
55779	CFAP44	HP:0032558	Absent sperm flagella	1/1	OMIM:617593
55779	CFAP44	HP:0032559	Short sperm flagella	1/1	OMIM:617593
55779	CFAP44	HP:0032560	Coiled sperm flagella	1/1	OMIM:617593
55779	CFAP44	HP:0011462	Young adult onset	1/1	OMIM:617593
55779	CFAP44	HP:0003251	Male infertility	1/1	OMIM:617593
55780	ERMARD	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0001250	Seizure	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0001250	Seizure	1/1	OMIM:615544
55780	ERMARD	HP:0001263	Global developmental delay	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0032388	Periventricular nodular heterotopia	1/1	OMIM:615544
55780	ERMARD	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:98892
55780	ERMARD	HP:0002538	Abnormal cerebral cortex morphology	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0002521	Hypsarrhythmia	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0002521	Hypsarrhythmia	1/1	OMIM:615544
55780	ERMARD	HP:0003834	Shoulder dislocation	HP:0040283	ORPHA:98892
55780	ERMARD	HP:0002500	Abnormal cerebral white matter morphology	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:75857
55780	ERMARD	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:98892
55780	ERMARD	HP:0000047	Hypospadias	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0000006	Autosomal dominant inheritance	-	OMIM:615544
55780	ERMARD	HP:0001310	Dysmetria	HP:0040282	ORPHA:75857
55780	ERMARD	HP:0002650	Scoliosis	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0002650	Scoliosis	HP:0040281	ORPHA:98892
55780	ERMARD	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0008947	Floppy infant	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0002705	High, narrow palate	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0002021	Pyloric stenosis	HP:0040281	ORPHA:98892
55780	ERMARD	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:98892
55780	ERMARD	HP:0002066	Gait ataxia	HP:0040282	ORPHA:75857
55780	ERMARD	HP:0002079	Hypoplasia of the corpus callosum	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0003593	Infantile onset	1/1	OMIM:615544
55780	ERMARD	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0100790	Hernia	HP:0040281	ORPHA:98892
55780	ERMARD	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0007165	Periventricular heterotopia	HP:0040282	ORPHA:98892
55780	ERMARD	HP:0007165	Periventricular heterotopia	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:98892
55780	ERMARD	HP:0000639	Nystagmus	HP:0040282	ORPHA:75857
55780	ERMARD	HP:0011342	Mild global developmental delay	1/1	OMIM:615544
55780	ERMARD	HP:0012639	Abnormal nervous system morphology	HP:0040282	ORPHA:98892
55780	ERMARD	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0012745	Short palpebral fissure	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0000771	Gynecomastia	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0000750	Delayed speech and language development	1/1	OMIM:615544
55780	ERMARD	HP:0000963	Thin skin	HP:0040282	ORPHA:98892
55780	ERMARD	HP:0000962	Hyperkeratosis	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0000294	Low anterior hairline	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0000289	Broad philtrum	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0000256	Macrocephaly	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0030084	Clinodactyly	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0001508	Failure to thrive	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0030048	Colpocephaly	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0001513	Obesity	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:98892
55780	ERMARD	HP:0000347	Micrognathia	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0000316	Hypertelorism	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:98892
55780	ERMARD	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:98892
55780	ERMARD	HP:0001654	Abnormal heart valve morphology	HP:0040282	ORPHA:98892
55780	ERMARD	HP:0006610	Wide intermamillary distance	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0011153	Focal motor seizure	1/1	OMIM:615544
55780	ERMARD	HP:0000486	Strabismus	HP:0040281	ORPHA:75857
55780	ERMARD	HP:0000486	Strabismus	1/1	OMIM:615544
55780	ERMARD	HP:0012469	Infantile spasms	1/1	OMIM:615544
55780	ERMARD	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:75857
55780	ERMARD	HP:0000470	Short neck	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0001741	Phimosis	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0006712	Aplasia/Hypoplasia of the ribs	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0005487	Prominent metopic ridge	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0001822	Hallux valgus	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:98892
55780	ERMARD	HP:0011220	Prominent forehead	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0001884	Talipes calcaneovalgus	HP:0040283	ORPHA:75857
55780	ERMARD	HP:0000540	Hypermetropia	HP:0040282	ORPHA:75857
55784	MCTP2	HP:0001195	Single umbilical artery	HP:0040283	ORPHA:1596
55784	MCTP2	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0001250	Seizure	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000054	Micropenis	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000047	Hypospadias	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:1596
55784	MCTP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
55784	MCTP2	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000175	Cleft palate	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0002761	Generalized joint hypermobility	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:1596
55784	MCTP2	HP:0002089	Pulmonary hypoplasia	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0030918	Low 1-minute APGAR score	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0200055	Small hand	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
55784	MCTP2	HP:0004322	Short stature	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0004383	Hypoplastic left heart	HP:0040283	ORPHA:1596
55784	MCTP2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000729	Autistic behavior	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000776	Congenital diaphragmatic hernia	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0005709	2-3 toe cutaneous syndactyly	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0004467	Preauricular pit	-	OMIM:187500
55784	MCTP2	HP:0004471	Aplasia cutis congenita over the scalp vertex	HP:0040283	ORPHA:1596
55784	MCTP2	HP:0010297	Bifid tongue	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0040019	Finger clinodactyly	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0011560	Mitral atresia	HP:0040283	ORPHA:1596
55784	MCTP2	HP:0011651	Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis	HP:0040283	ORPHA:1596
55784	MCTP2	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:1596
55784	MCTP2	HP:0009381	Short finger	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000280	Coarse facial features	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0002827	Hip dislocation	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000252	Microcephaly	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0002857	Genu valgum	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0001518	Small for gestational age	HP:0040281	ORPHA:1596
55784	MCTP2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:1596
55784	MCTP2	HP:0001510	Growth delay	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000369	Low-set ears	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000337	Broad forehead	-	OMIM:187500
55784	MCTP2	HP:0001680	Coarctation of aorta	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000347	Micrognathia	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0012303	Abnormal aortic arch morphology	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0001647	Bicuspid aortic valve	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1596
55784	MCTP2	HP:0000322	Short philtrum	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000325	Triangular face	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
55784	MCTP2	HP:0001718	Mitral stenosis	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000486	Strabismus	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000476	Cystic hygroma	HP:0040283	ORPHA:1596
55784	MCTP2	HP:0001792	Small nail	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0005469	Flat occiput	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000520	Proptosis	-	OMIM:187500
55784	MCTP2	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:1596
55784	MCTP2	HP:0030353	Decreased serum insulin-like growth factor 1	HP:0040282	ORPHA:1596
55788	LMBRD1	HP:0008551	Microtia	-	OMIM:277380
55788	LMBRD1	HP:0001290	Generalized hypotonia	-	OMIM:277380
55788	LMBRD1	HP:0001254	Lethargy	-	OMIM:277380
55788	LMBRD1	HP:0001254	Lethargy	HP:0040282	ORPHA:79284
55788	LMBRD1	HP:0001250	Seizure	HP:0040282	ORPHA:79284
55788	LMBRD1	HP:0001252	Hypotonia	-	OMIM:277380
55788	LMBRD1	HP:0001252	Hypotonia	HP:0040282	ORPHA:79284
55788	LMBRD1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:79284
55788	LMBRD1	HP:0001263	Global developmental delay	5/12	OMIM:277380
55788	LMBRD1	HP:0002575	Tracheoesophageal fistula	1/12	OMIM:277380
55788	LMBRD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:277380
55788	LMBRD1	HP:0000175	Cleft palate	HP:0040283	ORPHA:79284
55788	LMBRD1	HP:0012120	Methylmalonic aciduria	HP:0040281	ORPHA:79284
55788	LMBRD1	HP:0012120	Methylmalonic aciduria	12/12	OMIM:277380
55788	LMBRD1	HP:0000122	Unilateral renal agenesis	HP:0040283	ORPHA:79284
55788	LMBRD1	HP:0002719	Recurrent infections	1/12	OMIM:277380
55788	LMBRD1	HP:0002719	Recurrent infections	HP:0040282	ORPHA:79284
55788	LMBRD1	HP:0100502	Decreased circulating vitamin B12 concentration	HP:0040281	ORPHA:79284
55788	LMBRD1	HP:0002156	Homocystinuria	-	OMIM:277380
55788	LMBRD1	HP:0002160	Hyperhomocystinemia	12/12	OMIM:277380
55788	LMBRD1	HP:0002160	Hyperhomocystinemia	HP:0040281	ORPHA:79284
55788	LMBRD1	HP:0003593	Infantile onset	7/12	OMIM:277380
55788	LMBRD1	HP:0002240	Hepatomegaly	2/12	OMIM:277380
55788	LMBRD1	HP:0003524	Decreased methionine synthase activity	-	OMIM:277380
55788	LMBRD1	HP:0011968	Feeding difficulties	4/12	OMIM:277380
55788	LMBRD1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:79284
55788	LMBRD1	HP:0003658	Hypomethioninemia	-	ORPHA:79284
55788	LMBRD1	HP:0033443	Elevated circulating propionylcarnitine concentration	3/12	OMIM:277380
55788	LMBRD1	HP:0003623	Neonatal onset	3/12	OMIM:277380
55788	LMBRD1	HP:0002311	Incoordination	-	OMIM:277380
55788	LMBRD1	HP:0003621	Juvenile onset	1/12	OMIM:277380
55788	LMBRD1	HP:0001903	Anemia	3/12	OMIM:277380
55788	LMBRD1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:79284
55788	LMBRD1	HP:0004322	Short stature	3/12	OMIM:277380
55788	LMBRD1	HP:0011463	Childhood onset	1/12	OMIM:277380
55788	LMBRD1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:79284
55788	LMBRD1	HP:0030746	Intraventricular hemorrhage	HP:0040283	ORPHA:79284
55788	LMBRD1	HP:0003153	Cystathioninuria	-	OMIM:277380
55788	LMBRD1	HP:0003145	Decreased circulating adenosylcobalamin concentration	-	OMIM:277380
55788	LMBRD1	HP:0003145	Decreased circulating adenosylcobalamin concentration	HP:0040281	ORPHA:79284
55788	LMBRD1	HP:0010280	Stomatitis	4/12	OMIM:277380
55788	LMBRD1	HP:0010280	Stomatitis	HP:0040283	ORPHA:79284
55788	LMBRD1	HP:0003223	Decreased circulating methylcobalamin concentration	-	OMIM:277380
55788	LMBRD1	HP:0003223	Decreased circulating methylcobalamin concentration	HP:0040281	ORPHA:79284
55788	LMBRD1	HP:0003286	Cystathioninemia	-	OMIM:277380
55788	LMBRD1	HP:0000988	Skin rash	1/12	OMIM:277380
55788	LMBRD1	HP:0000988	Skin rash	HP:0040283	ORPHA:79284
55788	LMBRD1	HP:0000286	Epicanthus	-	OMIM:277380
55788	LMBRD1	HP:0000219	Thin upper lip vermilion	-	OMIM:277380
55788	LMBRD1	HP:0000218	High palate	-	OMIM:277380
55788	LMBRD1	HP:0000206	Glossitis	-	OMIM:277380
55788	LMBRD1	HP:0000206	Glossitis	HP:0040283	ORPHA:79284
55788	LMBRD1	HP:0001508	Failure to thrive	6/12	OMIM:277380
55788	LMBRD1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79284
55788	LMBRD1	HP:0001518	Small for gestational age	4/12	OMIM:277380
55788	LMBRD1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:79284
55788	LMBRD1	HP:0001510	Growth delay	HP:0040282	ORPHA:79284
55788	LMBRD1	HP:0006571	Reduced number of intrahepatic bile ducts	HP:0040283	ORPHA:79284
55788	LMBRD1	HP:0002912	Methylmalonic acidemia	12/12	OMIM:277380
55788	LMBRD1	HP:0000369	Low-set ears	-	OMIM:277380
55788	LMBRD1	HP:0001651	Dextrocardia	1/12	OMIM:277380
55788	LMBRD1	HP:0001643	Patent ductus arteriosus	1/12	OMIM:277380
55788	LMBRD1	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:79284
55788	LMBRD1	HP:0001631	Atrial septal defect	1/12	OMIM:277380
55788	LMBRD1	HP:0031544	Elevated circulating palmitoleylcarnitine concentration	HP:0040281	ORPHA:79284
55788	LMBRD1	HP:0001762	Talipes equinovarus	1/12	OMIM:277380
55788	LMBRD1	HP:0001889	Megaloblastic anemia	HP:0040281	ORPHA:79284
55788	LMBRD1	HP:0001889	Megaloblastic anemia	-	OMIM:277380
55788	LMBRD1	HP:0001873	Thrombocytopenia	1/12	OMIM:277380
55788	LMBRD1	HP:0001876	Pancytopenia	1/12	OMIM:277380
55788	LMBRD1	HP:0001875	Decreased total neutrophil count	2/12	OMIM:277380
55788	LMBRD1	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:79284
55790	CSGALNACT1	HP:0001156	Brachydactyly	2/3	OMIM:618870
55790	CSGALNACT1	HP:0001156	Brachydactyly	-	OMIM:143095
55790	CSGALNACT1	HP:0010880	Increased nuchal translucency	1/2	OMIM:618870
55790	CSGALNACT1	HP:0009882	Short distal phalanx of finger	-	OMIM:143095
55790	CSGALNACT1	HP:0008551	Microtia	-	OMIM:143095
55790	CSGALNACT1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55790	CSGALNACT1	HP:0001293	Cranial nerve compression	-	OMIM:131300
55790	CSGALNACT1	HP:0001270	Motor delay	2/2	OMIM:618870
55790	CSGALNACT1	HP:0001252	Hypotonia	2/2	OMIM:618870
55790	CSGALNACT1	HP:0001252	Hypotonia	2/7	OMIM:615777
55790	CSGALNACT1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1425
55790	CSGALNACT1	HP:0001249	Intellectual disability	0/9	OMIM:143095
55790	CSGALNACT1	HP:0001249	Intellectual disability	3/20	OMIM:150250
55790	CSGALNACT1	HP:0001249	Intellectual disability	5/7	OMIM:615777
55790	CSGALNACT1	HP:0001263	Global developmental delay	-	OMIM:615777
55790	CSGALNACT1	HP:0100864	Short femoral neck	-	OMIM:143095
55790	CSGALNACT1	HP:0006067	Multiple carpal ossification centers	-	OMIM:143095
55790	CSGALNACT1	HP:0006067	Multiple carpal ossification centers	-	OMIM:150250
55790	CSGALNACT1	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:143095
55790	CSGALNACT1	HP:0003883	Tapered humerus	3/16	OMIM:150250
55790	CSGALNACT1	HP:0001222	Spatulate thumbs	17/18	OMIM:150250
55790	CSGALNACT1	HP:0002515	Waddling gait	54/102	OMIM:131300
55790	CSGALNACT1	HP:0002515	Waddling gait	-	OMIM:143095
55790	CSGALNACT1	HP:0003834	Shoulder dislocation	-	OMIM:143095
55790	CSGALNACT1	HP:0006094	Finger joint hypermobility	1/1	OMIM:618870
55790	CSGALNACT1	HP:0001377	Limited elbow extension	1/2	OMIM:618870
55790	CSGALNACT1	HP:0001371	Flexion contracture	-	OMIM:143095
55790	CSGALNACT1	HP:0001373	Joint dislocation	1/2	OMIM:618870
55790	CSGALNACT1	HP:0001373	Joint dislocation	-	OMIM:143095
55790	CSGALNACT1	HP:0001382	Joint hypermobility	2/3	OMIM:618870
55790	CSGALNACT1	HP:0001382	Joint hypermobility	-	OMIM:150250
55790	CSGALNACT1	HP:0001382	Joint hypermobility	-	OMIM:615777
55790	CSGALNACT1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:1425
55790	CSGALNACT1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55790	CSGALNACT1	HP:0000028	Cryptorchidism	-	OMIM:150250
55790	CSGALNACT1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55790	CSGALNACT1	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:1425
55790	CSGALNACT1	HP:0003994	Dislocated wrist	-	OMIM:150250
55790	CSGALNACT1	HP:0001331	Absent septum pellucidum	1/2	OMIM:618870
55790	CSGALNACT1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55790	CSGALNACT1	HP:0001324	Muscle weakness	40/96	OMIM:131300
55790	CSGALNACT1	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:143095
55790	CSGALNACT1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55790	CSGALNACT1	HP:0002673	Coxa valga	HP:0040282	ORPHA:1425
55790	CSGALNACT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618870
55790	CSGALNACT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:143095
55790	CSGALNACT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55790	CSGALNACT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:150250
55790	CSGALNACT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55790	CSGALNACT1	HP:0002650	Scoliosis	HP:0040282	ORPHA:1425
55790	CSGALNACT1	HP:0002650	Scoliosis	2/2	OMIM:618870
55790	CSGALNACT1	HP:0002650	Scoliosis	9/9	OMIM:143095
55790	CSGALNACT1	HP:0002650	Scoliosis	12/14	OMIM:131300
55790	CSGALNACT1	HP:0002650	Scoliosis	12/20	OMIM:150250
55790	CSGALNACT1	HP:0002643	Neonatal respiratory distress	2/2	OMIM:618870
55790	CSGALNACT1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55790	CSGALNACT1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55790	CSGALNACT1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55790	CSGALNACT1	HP:0008905	Rhizomelia	-	OMIM:143095
55790	CSGALNACT1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55790	CSGALNACT1	HP:0000175	Cleft palate	3/20	OMIM:150250
55790	CSGALNACT1	HP:0000175	Cleft palate	2/7	OMIM:615777
55790	CSGALNACT1	HP:0007598	Bilateral single transverse palmar creases	-	OMIM:143095
55790	CSGALNACT1	HP:0002780	Bronchomalacia	-	OMIM:150250
55790	CSGALNACT1	HP:0002779	Tracheomalacia	-	OMIM:150250
55790	CSGALNACT1	HP:0002777	Tracheal stenosis	-	OMIM:150250
55790	CSGALNACT1	HP:0002751	Kyphoscoliosis	-	OMIM:143095
55790	CSGALNACT1	HP:0002750	Delayed skeletal maturation	-	OMIM:143095
55790	CSGALNACT1	HP:0003366	Abnormal femoral neck/head morphology	HP:0040281	ORPHA:1425
55790	CSGALNACT1	HP:0004691	2-3 toe syndactyly	2/2	OMIM:618870
55790	CSGALNACT1	HP:0002007	Frontal bossing	1/2	OMIM:618870
55790	CSGALNACT1	HP:0002007	Frontal bossing	-	OMIM:150250
55790	CSGALNACT1	HP:0003307	Hyperlordosis	3/4	OMIM:618870
55790	CSGALNACT1	HP:0003304	Spondylolysis	-	OMIM:150250
55790	CSGALNACT1	HP:0003316	Butterfly vertebrae	2/3	OMIM:618870
55790	CSGALNACT1	HP:0003301	Irregular vertebral endplates	-	OMIM:143095
55790	CSGALNACT1	HP:0011800	Midface retrusion	2/3	OMIM:618870
55790	CSGALNACT1	HP:0011800	Midface retrusion	19/20	OMIM:150250
55790	CSGALNACT1	HP:0002092	Pulmonary arterial hypertension	-	OMIM:143095
55790	CSGALNACT1	HP:0003388	Easy fatigability	36/76	OMIM:131300
55790	CSGALNACT1	HP:0010446	Tricuspid stenosis	-	OMIM:143095
55790	CSGALNACT1	HP:0008127	Bipartite calcaneus	-	OMIM:150250
55790	CSGALNACT1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55790	CSGALNACT1	HP:0033102	Monkey wrench femoral neck	2/2	OMIM:618870
55790	CSGALNACT1	HP:0002119	Ventriculomegaly	2/2	OMIM:618870
55790	CSGALNACT1	HP:0003417	Coronal cleft vertebrae	-	OMIM:143095
55790	CSGALNACT1	HP:0003417	Coronal cleft vertebrae	3/3	OMIM:618870
55790	CSGALNACT1	HP:0002194	Delayed gross motor development	-	OMIM:143095
55790	CSGALNACT1	HP:0002176	Spinal cord compression	-	OMIM:150250
55790	CSGALNACT1	HP:0100490	Camptodactyly of finger	-	OMIM:143095
55790	CSGALNACT1	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1425
55790	CSGALNACT1	HP:0010585	Small epiphyses	9/9	OMIM:143095
55790	CSGALNACT1	HP:0003593	Infantile onset	9/9	OMIM:143095
55790	CSGALNACT1	HP:0003577	Congenital onset	6/6	OMIM:143095
55790	CSGALNACT1	HP:0007018	Attention deficit hyperactivity disorder	2/2	OMIM:618870
55790	CSGALNACT1	HP:0003510	Severe short stature	7/7	OMIM:615777
55790	CSGALNACT1	HP:0003510	Severe short stature	HP:0040281	ORPHA:1425
55790	CSGALNACT1	HP:0003691	Scapular winging	1/1	OMIM:618870
55790	CSGALNACT1	HP:0002315	Headache	-	OMIM:131300
55790	CSGALNACT1	HP:0004976	Knee dislocation	16/20	OMIM:150250
55790	CSGALNACT1	HP:0004976	Knee dislocation	6/6	OMIM:143095
55790	CSGALNACT1	HP:0004976	Knee dislocation	6/7	OMIM:615777
55790	CSGALNACT1	HP:0009803	Short phalanx of finger	-	OMIM:143095
55790	CSGALNACT1	HP:0009803	Short phalanx of finger	-	OMIM:615777
55790	CSGALNACT1	HP:0200055	Small hand	HP:0040282	ORPHA:1425
55790	CSGALNACT1	HP:0007165	Periventricular heterotopia	1/2	OMIM:618870
55790	CSGALNACT1	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:143095
55790	CSGALNACT1	HP:0010743	Short metatarsal	-	OMIM:150250
55790	CSGALNACT1	HP:0009763	Limb pain	63/92	OMIM:131300
55790	CSGALNACT1	HP:0008434	Hypoplastic cervical vertebrae	-	OMIM:150250
55790	CSGALNACT1	HP:0003621	Juvenile onset	-	OMIM:131300
55790	CSGALNACT1	HP:0004942	Aortic aneurysm	-	OMIM:150250
55790	CSGALNACT1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55790	CSGALNACT1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1425
55790	CSGALNACT1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55790	CSGALNACT1	HP:0004232	Accessory carpal bones	-	OMIM:150250
55790	CSGALNACT1	HP:6001056	Out-toeing	-	OMIM:131300
55790	CSGALNACT1	HP:0000651	Diplopia	-	OMIM:131300
55790	CSGALNACT1	HP:0001956	Truncal obesity	2/7	OMIM:615777
55790	CSGALNACT1	HP:0001903	Anemia	HP:0040283	OMIM:131300
55790	CSGALNACT1	HP:0010049	Short metacarpal	-	OMIM:143095
55790	CSGALNACT1	HP:0010049	Short metacarpal	-	OMIM:615777
55790	CSGALNACT1	HP:0010049	Short metacarpal	-	OMIM:150250
55790	CSGALNACT1	HP:0000684	Delayed eruption of teeth	-	OMIM:143095
55790	CSGALNACT1	HP:0000678	Dental crowding	-	OMIM:615777
55790	CSGALNACT1	HP:0000691	Microdontia	-	OMIM:143095
55790	CSGALNACT1	HP:0000687	Widely spaced teeth	-	OMIM:143095
55790	CSGALNACT1	HP:0000670	Carious teeth	-	OMIM:131300
55790	CSGALNACT1	HP:0011304	Broad thumb	2/7	OMIM:615777
55790	CSGALNACT1	HP:0000668	Hypodontia	-	OMIM:615777
55790	CSGALNACT1	HP:0000668	Hypodontia	-	OMIM:150250
55790	CSGALNACT1	HP:0000664	Synophrys	-	OMIM:615777
55790	CSGALNACT1	HP:0004322	Short stature	4/4	OMIM:618870
55790	CSGALNACT1	HP:0004322	Short stature	15/15	OMIM:143095
55790	CSGALNACT1	HP:0004322	Short stature	14/20	OMIM:150250
55790	CSGALNACT1	HP:0005616	Accelerated skeletal maturation	1/1	OMIM:618870
55790	CSGALNACT1	HP:0005616	Accelerated skeletal maturation	HP:0040281	ORPHA:1425
55790	CSGALNACT1	HP:0003071	Flattened epiphysis	-	OMIM:143095
55790	CSGALNACT1	HP:0003083	Dislocated radial head	6/6	OMIM:143095
55790	CSGALNACT1	HP:0003066	Limited knee extension	1/2	OMIM:618870
55790	CSGALNACT1	HP:0004396	Poor appetite	-	OMIM:131300
55790	CSGALNACT1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55790	CSGALNACT1	HP:0003031	Ulnar bowing	-	OMIM:143095
55790	CSGALNACT1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55790	CSGALNACT1	HP:0003042	Elbow dislocation	-	OMIM:143095
55790	CSGALNACT1	HP:0003042	Elbow dislocation	HP:0040282	ORPHA:1425
55790	CSGALNACT1	HP:0003042	Elbow dislocation	13/20	OMIM:150250
55790	CSGALNACT1	HP:0003040	Arthropathy	-	OMIM:143095
55790	CSGALNACT1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55790	CSGALNACT1	HP:0003026	Short long bone	7/7	OMIM:615777
55790	CSGALNACT1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55790	CSGALNACT1	HP:0003022	Hypoplasia of the ulna	-	OMIM:143095
55790	CSGALNACT1	HP:0000767	Pectus excavatum	1/2	OMIM:618870
55790	CSGALNACT1	HP:0000767	Pectus excavatum	-	OMIM:150250
55790	CSGALNACT1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55790	CSGALNACT1	HP:0000768	Pectus carinatum	-	OMIM:150250
55790	CSGALNACT1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55790	CSGALNACT1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55790	CSGALNACT1	HP:0000750	Delayed speech and language development	-	OMIM:615777
55790	CSGALNACT1	HP:0009179	Deviation of the 5th finger	-	OMIM:143095
55790	CSGALNACT1	HP:0011461	Fetal onset	7/7	OMIM:615777
55790	CSGALNACT1	HP:0000774	Narrow chest	2/7	OMIM:615777
55790	CSGALNACT1	HP:0000914	Shield chest	-	OMIM:143095
55790	CSGALNACT1	HP:0000926	Platyspondyly	1/7	OMIM:615777
55790	CSGALNACT1	HP:0003184	Decreased hip abduction	-	OMIM:143095
55790	CSGALNACT1	HP:0003180	Flat acetabular roof	-	OMIM:615777
55790	CSGALNACT1	HP:0003180	Flat acetabular roof	2/2	OMIM:618870
55790	CSGALNACT1	HP:0004482	Relative macrocephaly	-	OMIM:615777
55790	CSGALNACT1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55790	CSGALNACT1	HP:0003093	Limited hip extension	9/9	OMIM:143095
55790	CSGALNACT1	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:143095
55790	CSGALNACT1	HP:0000823	Delayed puberty	-	OMIM:131300
55790	CSGALNACT1	HP:0040022	Clinodactyly of the 2nd finger	1/2	OMIM:618870
55790	CSGALNACT1	HP:0000894	Short clavicles	-	OMIM:615777
55790	CSGALNACT1	HP:0004568	Beaking of vertebral bodies	-	OMIM:150250
55790	CSGALNACT1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55790	CSGALNACT1	HP:0003298	Spina bifida occulta	-	OMIM:150250
55790	CSGALNACT1	HP:0045075	Sparse eyebrow	-	OMIM:143095
55790	CSGALNACT1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:1425
55790	CSGALNACT1	HP:0000954	Single transverse palmar crease	2/2	OMIM:618870
55790	CSGALNACT1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55790	CSGALNACT1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1425
55790	CSGALNACT1	HP:0008070	Sparse hair	HP:0040282	ORPHA:1425
55790	CSGALNACT1	HP:6000970	Diminished sulfotransferase activity in cultured fibroblasts	2/2	OMIM:143095
55790	CSGALNACT1	HP:0000286	Epicanthus	1/7	OMIM:615777
55790	CSGALNACT1	HP:0000280	Coarse facial features	2/7	OMIM:615777
55790	CSGALNACT1	HP:0001591	Bell-shaped thorax	HP:0040281	ORPHA:1425
55790	CSGALNACT1	HP:0000256	Macrocephaly	1/2	OMIM:618870
55790	CSGALNACT1	HP:0000272	Malar flattening	-	OMIM:150250
55790	CSGALNACT1	HP:0006471	Fixed elbow flexion	-	OMIM:143095
55790	CSGALNACT1	HP:0006462	Generalized bone demineralization	-	OMIM:143095
55790	CSGALNACT1	HP:0002816	Genu recurvatum	3/6	OMIM:143095
55790	CSGALNACT1	HP:0002816	Genu recurvatum	HP:0040282	ORPHA:1425
55790	CSGALNACT1	HP:0002812	Coxa vara	HP:0040282	ORPHA:1425
55790	CSGALNACT1	HP:0002829	Arthralgia	-	OMIM:143095
55790	CSGALNACT1	HP:0002827	Hip dislocation	16/20	OMIM:150250
55790	CSGALNACT1	HP:0002827	Hip dislocation	3/7	OMIM:615777
55790	CSGALNACT1	HP:0002808	Kyphosis	-	OMIM:143095
55790	CSGALNACT1	HP:0000252	Microcephaly	-	OMIM:615777
55790	CSGALNACT1	HP:0001552	Barrel-shaped chest	-	OMIM:143095
55790	CSGALNACT1	HP:0000218	High palate	-	OMIM:143095
55790	CSGALNACT1	HP:0002857	Genu valgum	1/1	OMIM:618870
55790	CSGALNACT1	HP:0002857	Genu valgum	-	OMIM:131300
55790	CSGALNACT1	HP:0002857	Genu valgum	-	OMIM:143095
55790	CSGALNACT1	HP:0001533	Slender build	-	OMIM:131300
55790	CSGALNACT1	HP:0000204	Cleft upper lip	-	OMIM:150250
55790	CSGALNACT1	HP:0001511	Intrauterine growth retardation	-	OMIM:150250
55790	CSGALNACT1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55790	CSGALNACT1	HP:0007807	Optic nerve compression	-	OMIM:131300
55790	CSGALNACT1	HP:0012368	Flat face	7/7	OMIM:615777
55790	CSGALNACT1	HP:0012368	Flat face	-	OMIM:150250
55790	CSGALNACT1	HP:0002938	Lumbar hyperlordosis	-	OMIM:143095
55790	CSGALNACT1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55790	CSGALNACT1	HP:0002948	Vertebral fusion	8/16	OMIM:150250
55790	CSGALNACT1	HP:0002947	Cervical kyphosis	-	OMIM:150250
55790	CSGALNACT1	HP:0002945	Intervertebral space narrowing	9/9	OMIM:143095
55790	CSGALNACT1	HP:0005180	Tricuspid regurgitation	1/2	OMIM:618870
55790	CSGALNACT1	HP:0005180	Tricuspid regurgitation	-	OMIM:143095
55790	CSGALNACT1	HP:0000365	Hearing impairment	-	OMIM:143095
55790	CSGALNACT1	HP:0000365	Hearing impairment	10/67	OMIM:131300
55790	CSGALNACT1	HP:0000365	Hearing impairment	4/19	OMIM:150250
55790	CSGALNACT1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1425
55790	CSGALNACT1	HP:0000343	Long philtrum	1/1	OMIM:618870
55790	CSGALNACT1	HP:0000343	Long philtrum	HP:0040282	OMIM:143095
55790	CSGALNACT1	HP:0000343	Long philtrum	1/7	OMIM:615777
55790	CSGALNACT1	HP:0011001	Increased bone mineral density	-	OMIM:131300
55790	CSGALNACT1	HP:0000337	Broad forehead	HP:0040282	OMIM:143095
55790	CSGALNACT1	HP:0002999	Patellar dislocation	HP:0040281	ORPHA:1425
55790	CSGALNACT1	HP:0002982	Tibial bowing	-	OMIM:143095
55790	CSGALNACT1	HP:0001650	Aortic valve stenosis	-	OMIM:143095
55790	CSGALNACT1	HP:0002983	Micromelia	1/1	OMIM:618870
55790	CSGALNACT1	HP:0000316	Hypertelorism	-	OMIM:143095
55790	CSGALNACT1	HP:0000316	Hypertelorism	-	OMIM:150250
55790	CSGALNACT1	HP:0001643	Patent ductus arteriosus	1/2	OMIM:618870
55790	CSGALNACT1	HP:0000311	Round face	1/1	OMIM:618870
55790	CSGALNACT1	HP:0000311	Round face	2/7	OMIM:615777
55790	CSGALNACT1	HP:0001642	Pulmonic stenosis	-	OMIM:143095
55790	CSGALNACT1	HP:0002974	Radioulnar synostosis	HP:0040282	ORPHA:1425
55790	CSGALNACT1	HP:0001659	Aortic regurgitation	-	OMIM:143095
55790	CSGALNACT1	HP:0001653	Mitral regurgitation	-	OMIM:143095
55790	CSGALNACT1	HP:0001655	Patent foramen ovale	1/2	OMIM:618870
55790	CSGALNACT1	HP:0001629	Ventricular septal defect	1/2	OMIM:618870
55790	CSGALNACT1	HP:0001629	Ventricular septal defect	-	OMIM:143095
55790	CSGALNACT1	HP:0001629	Ventricular septal defect	-	OMIM:150250
55790	CSGALNACT1	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:1425
55790	CSGALNACT1	HP:0001623	Breech presentation	3/6	OMIM:143095
55790	CSGALNACT1	HP:0002970	Genu varum	-	OMIM:615777
55790	CSGALNACT1	HP:0000308	Microretrognathia	2/3	OMIM:618870
55790	CSGALNACT1	HP:0002967	Cubitus valgus	-	OMIM:143095
55790	CSGALNACT1	HP:0001631	Atrial septal defect	1/2	OMIM:618870
55790	CSGALNACT1	HP:0001631	Atrial septal defect	-	OMIM:150250
55790	CSGALNACT1	HP:0000303	Mandibular prognathia	-	OMIM:131300
55790	CSGALNACT1	HP:0007957	Corneal opacity	-	OMIM:150250
55790	CSGALNACT1	HP:0006610	Wide intermamillary distance	-	OMIM:143095
55790	CSGALNACT1	HP:0000499	Abnormal eyelash morphology	HP:0040282	ORPHA:1425
55790	CSGALNACT1	HP:0000405	Conductive hearing impairment	-	OMIM:150250
55790	CSGALNACT1	HP:0001718	Mitral stenosis	-	OMIM:143095
55790	CSGALNACT1	HP:0001714	Ventricular hypertrophy	-	OMIM:143095
55790	CSGALNACT1	HP:0005274	Prominent nasal tip	2/2	OMIM:618870
55790	CSGALNACT1	HP:0005280	Depressed nasal bridge	2/3	OMIM:618870
55790	CSGALNACT1	HP:0005280	Depressed nasal bridge	-	OMIM:150250
55790	CSGALNACT1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55790	CSGALNACT1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:1425
55790	CSGALNACT1	HP:0000494	Downslanted palpebral fissures	2/2	OMIM:618870
55790	CSGALNACT1	HP:0000463	Anteverted nares	2/3	OMIM:618870
55790	CSGALNACT1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:1425
55790	CSGALNACT1	HP:0000470	Short neck	-	OMIM:143095
55790	CSGALNACT1	HP:0000470	Short neck	1/7	OMIM:615777
55790	CSGALNACT1	HP:0000470	Short neck	HP:0040281	ORPHA:1425
55790	CSGALNACT1	HP:0001799	Short nail	-	OMIM:150250
55790	CSGALNACT1	HP:0001772	Talipes equinovalgus	-	OMIM:150250
55790	CSGALNACT1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55790	CSGALNACT1	HP:0001763	Pes planus	2/3	OMIM:618870
55790	CSGALNACT1	HP:0001763	Pes planus	-	OMIM:143095
55790	CSGALNACT1	HP:0001763	Pes planus	1/7	OMIM:615777
55790	CSGALNACT1	HP:0000444	Convex nasal ridge	2/2	OMIM:618870
55790	CSGALNACT1	HP:0001762	Talipes equinovarus	6/6	OMIM:143095
55790	CSGALNACT1	HP:0001762	Talipes equinovarus	15/20	OMIM:150250
55790	CSGALNACT1	HP:0001840	Metatarsus adductus	-	OMIM:615777
55790	CSGALNACT1	HP:0000520	Proptosis	2/4	OMIM:131300
55790	CSGALNACT1	HP:0000520	Proptosis	7/7	OMIM:615777
55790	CSGALNACT1	HP:0000520	Proptosis	HP:0040281	ORPHA:1425
55790	CSGALNACT1	HP:0000501	Glaucoma	HP:0040281	ORPHA:1425
55790	CSGALNACT1	HP:0000592	Blue sclerae	2/7	OMIM:615777
55790	CSGALNACT1	HP:0000592	Blue sclerae	HP:0040282	ORPHA:1425
55790	CSGALNACT1	HP:0000586	Shallow orbits	-	OMIM:150250
55790	CSGALNACT1	HP:0011220	Prominent forehead	-	OMIM:150250
55790	CSGALNACT1	HP:0000540	Hypermetropia	2/2	OMIM:618870
55790	CSGALNACT1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55790	CSGALNACT1	HP:0012514	Lower limb pain	4/4	OMIM:131300
55791	LRIF1	HP:0003701	Proximal muscle weakness	1/1	OMIM:619477
55791	LRIF1	HP:0010984	Digenic inheritance	-	OMIM:619477
55791	LRIF1	HP:0003596	Middle age onset	1/1	OMIM:619477
55791	LRIF1	HP:0003551	Difficulty climbing stairs	1/1	OMIM:619477
55791	LRIF1	HP:0003547	Shoulder girdle muscle weakness	1/1	OMIM:619477
55791	LRIF1	HP:0011951	Aspiration pneumonia	1/1	OMIM:619477
55791	LRIF1	HP:0003691	Scapular winging	1/1	OMIM:619477
55791	LRIF1	HP:0034045	Angulated muscle fibers	1/1	OMIM:619477
55791	LRIF1	HP:0012378	Fatigue	1/1	OMIM:619477
55791	LRIF1	HP:0030319	Weakness of facial musculature	1/1	OMIM:619477
55791	LRIF1	HP:0000467	Neck muscle weakness	1/1	OMIM:619477
55800	SCN3B	HP:0001279	Syncope	HP:0040282	ORPHA:334
55800	SCN3B	HP:0001279	Syncope	HP:0040282	ORPHA:130
55800	SCN3B	HP:0000006	Autosomal dominant inheritance	-	OMIM:613120
55800	SCN3B	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
55800	SCN3B	HP:0011715	Trifascicular block	HP:0040284	ORPHA:130
55800	SCN3B	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:130
55800	SCN3B	HP:0011704	Sick sinus syndrome	HP:0040283	ORPHA:130
55800	SCN3B	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:130
55800	SCN3B	HP:0004757	Paroxysmal atrial fibrillation	1/3	OMIM:613120
55800	SCN3B	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:130
55800	SCN3B	HP:0004754	Permanent atrial fibrillation	2/3	OMIM:613120
55800	SCN3B	HP:0004751	Paroxysmal ventricular tachycardia	HP:0040283	ORPHA:130
55800	SCN3B	HP:0004749	Atrial flutter	-	OMIM:613120
55800	SCN3B	HP:0003596	Middle age onset	1/3	OMIM:613120
55800	SCN3B	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
55800	SCN3B	HP:0100749	Chest pain	HP:0040282	ORPHA:334
55800	SCN3B	HP:0002321	Vertigo	HP:0040282	ORPHA:334
55800	SCN3B	HP:0001962	Palpitations	HP:0040282	ORPHA:334
55800	SCN3B	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
55800	SCN3B	HP:0004308	Ventricular arrhythmia	HP:0040284	ORPHA:130
55800	SCN3B	HP:0034308	Prolonged P wave	1/3	OMIM:613120
55800	SCN3B	HP:0012251	ST segment elevation	HP:0040282	ORPHA:130
55800	SCN3B	HP:0012251	ST segment elevation	-	OMIM:613120
55800	SCN3B	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
55800	SCN3B	HP:0012378	Fatigue	HP:0040282	ORPHA:334
55800	SCN3B	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:130
55800	SCN3B	HP:0001649	Tachycardia	HP:0040283	ORPHA:130
55800	SCN3B	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:130
55800	SCN3B	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
55800	SCN3B	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
55800	SCN3B	HP:0025710	Late young adult onset	2/3	OMIM:613120
55806	HR	HP:0003765	Psoriasiform dermatitis	HP:0040284	ORPHA:701
55806	HR	HP:0002555	Absent pubic hair	11/11	OMIM:203655
55806	HR	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:444
55806	HR	HP:0007482	Generalized papillary lesions	-	OMIM:209500
55806	HR	HP:0000007	Autosomal recessive inheritance	-	OMIM:209500
55806	HR	HP:0000007	Autosomal recessive inheritance	-	OMIM:203655
55806	HR	HP:0002223	Absent eyebrow	HP:0040281	ORPHA:701
55806	HR	HP:0002223	Absent eyebrow	11/11	OMIM:203655
55806	HR	HP:0002221	Absent axillary hair	11/11	OMIM:203655
55806	HR	HP:0200102	Sparse or absent eyelashes	HP:0040281	ORPHA:444
55806	HR	HP:0002232	Patchy alopecia	HP:0040281	ORPHA:701
55806	HR	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:444
55806	HR	HP:0002208	Coarse hair	HP:0040281	ORPHA:444
55806	HR	HP:0002289	Alopecia universalis	11/11	OMIM:203655
55806	HR	HP:0002289	Alopecia universalis	HP:0040281	ORPHA:701
55806	HR	HP:0001045	Vitiligo	HP:0040284	ORPHA:701
55806	HR	HP:0001047	Atopic dermatitis	HP:0040283	ORPHA:701
55806	HR	HP:0100651	Type I diabetes mellitus	HP:0040284	ORPHA:701
55806	HR	HP:0003623	Neonatal onset	11/11	OMIM:203655
55806	HR	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:701
55806	HR	HP:0000822	Hypertension	HP:0040283	ORPHA:701
55806	HR	HP:0000820	Abnormality of the thyroid gland	HP:0040283	ORPHA:701
55806	HR	HP:0008070	Sparse hair	-	OMIM:209500
55806	HR	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:701
55806	HR	HP:0001596	Alopecia	HP:0040281	ORPHA:444
55806	HR	HP:0002960	Autoimmunity	HP:0040283	ORPHA:701
55806	HR	HP:0000561	Absent eyelashes	HP:0040281	ORPHA:701
55806	HR	HP:0000561	Absent eyelashes	11/11	OMIM:203655
55811	ADCY10	HP:0008672	Calcium oxalate nephrolithiasis	HP:0040282	ORPHA:2197
55811	ADCY10	HP:0008672	Calcium oxalate nephrolithiasis	-	OMIM:143870
55811	ADCY10	HP:0000006	Autosomal dominant inheritance	-	OMIM:143870
55811	ADCY10	HP:0002150	Hypercalciuria	-	OMIM:143870
55811	ADCY10	HP:0002150	Hypercalciuria	HP:0040280	ORPHA:2197
55811	ADCY10	HP:0003529	Parathormone-independent increased renal tubular calcium reabsorption	-	ORPHA:2197
55811	ADCY10	HP:0012637	Renal calcium wasting	HP:0040280	ORPHA:2197
55811	ADCY10	HP:0004363	Abnormal circulating calcium concentration	-	ORPHA:2197
55811	ADCY10	HP:0000939	Osteoporosis	HP:0040283	ORPHA:2197
55811	ADCY10	HP:0000938	Osteopenia	HP:0040282	ORPHA:2197
55812	SPATA7	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
55812	SPATA7	HP:0001133	Constriction of peripheral visual field	-	OMIM:604232
55812	SPATA7	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
55812	SPATA7	HP:0001103	Abnormal macular morphology	HP:0040282	ORPHA:364055
55812	SPATA7	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
55812	SPATA7	HP:0001116	Macular coloboma	HP:0040283	ORPHA:364055
55812	SPATA7	HP:0001270	Motor delay	HP:0040283	ORPHA:65
55812	SPATA7	HP:0001250	Seizure	HP:0040282	ORPHA:65
55812	SPATA7	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
55812	SPATA7	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
55812	SPATA7	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
55812	SPATA7	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
55812	SPATA7	HP:0000007	Autosomal recessive inheritance	-	OMIM:604232
55812	SPATA7	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
55812	SPATA7	HP:0001483	Eye poking	HP:0040282	ORPHA:65
55812	SPATA7	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
55812	SPATA7	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
55812	SPATA7	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
55812	SPATA7	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
55812	SPATA7	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:364055
55812	SPATA7	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
55812	SPATA7	HP:0002172	Postural instability	HP:0040283	ORPHA:364055
55812	SPATA7	HP:0003593	Infantile onset	1/10	OMIM:604232
55812	SPATA7	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
55812	SPATA7	HP:0002317	Unsteady gait	HP:0040283	ORPHA:364055
55812	SPATA7	HP:0003623	Neonatal onset	9/10	OMIM:604232
55812	SPATA7	HP:0003621	Juvenile onset	8/19	OMIM:180100
55812	SPATA7	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
55812	SPATA7	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
55812	SPATA7	HP:0000639	Nystagmus	HP:0040282	ORPHA:364055
55812	SPATA7	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
55812	SPATA7	HP:0000639	Nystagmus	10/10	OMIM:604232
55812	SPATA7	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
55812	SPATA7	HP:0000618	Blindness	HP:0040281	ORPHA:791
55812	SPATA7	HP:0000613	Photophobia	HP:0040282	ORPHA:65
55812	SPATA7	HP:0000613	Photophobia	HP:0040281	ORPHA:791
55812	SPATA7	HP:0000613	Photophobia	HP:0040283	ORPHA:364055
55812	SPATA7	HP:0000622	Blurred vision	HP:0040283	ORPHA:364055
55812	SPATA7	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
55812	SPATA7	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
55812	SPATA7	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
55812	SPATA7	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
55812	SPATA7	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:364055
55812	SPATA7	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
55812	SPATA7	HP:0000662	Nyctalopia	HP:0040282	ORPHA:364055
55812	SPATA7	HP:0000662	Nyctalopia	26/28	OMIM:180100
55812	SPATA7	HP:0000662	Nyctalopia	2/8	OMIM:604232
55812	SPATA7	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
55812	SPATA7	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
55812	SPATA7	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
55812	SPATA7	HP:0011488	Abnormal corneal endothelium morphology	HP:0040283	ORPHA:364055
55812	SPATA7	HP:0011484	Posterior synechiae of the anterior chamber	HP:0040283	ORPHA:364055
55812	SPATA7	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
55812	SPATA7	HP:0011463	Childhood onset	3/19	OMIM:180100
55812	SPATA7	HP:0011462	Young adult onset	8/19	OMIM:180100
55812	SPATA7	HP:0030786	Photopsia	HP:0040283	ORPHA:791
55812	SPATA7	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
55812	SPATA7	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
55812	SPATA7	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
55812	SPATA7	HP:0007722	Retinal pigment epithelial atrophy	HP:0040283	ORPHA:364055
55812	SPATA7	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
55812	SPATA7	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
55812	SPATA7	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:364055
55812	SPATA7	HP:0007793	Granular macular appearance	HP:0040283	ORPHA:364055
55812	SPATA7	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
55812	SPATA7	HP:0007787	Posterior subcapsular cataract	HP:0040283	ORPHA:364055
55812	SPATA7	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
55812	SPATA7	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
55812	SPATA7	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:364055
55812	SPATA7	HP:0007695	Abnormal pupillary light reflex	HP:0040282	ORPHA:364055
55812	SPATA7	HP:0012230	Rhegmatogenous retinal detachment	HP:0040284	ORPHA:364055
55812	SPATA7	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
55812	SPATA7	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:364055
55812	SPATA7	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
55812	SPATA7	HP:0007814	Retinal pigment epithelial mottling	HP:0040282	ORPHA:364055
55812	SPATA7	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
55812	SPATA7	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
55812	SPATA7	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:364055
55812	SPATA7	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
55812	SPATA7	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
55812	SPATA7	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
55812	SPATA7	HP:0012434	Delayed early-childhood social milestone development	HP:0040283	ORPHA:364055
55812	SPATA7	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
55812	SPATA7	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:364055
55812	SPATA7	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
55812	SPATA7	HP:0000518	Cataract	HP:0040282	ORPHA:65
55812	SPATA7	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
55812	SPATA7	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
55812	SPATA7	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
55812	SPATA7	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
55812	SPATA7	HP:0000505	Visual impairment	HP:0040282	ORPHA:364055
55812	SPATA7	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
55812	SPATA7	HP:0000575	Scotoma	5/18	OMIM:180100
55812	SPATA7	HP:0000577	Exotropia	HP:0040283	ORPHA:364055
55812	SPATA7	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
55812	SPATA7	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
55812	SPATA7	HP:0000572	Visual loss	10/10	OMIM:604232
55812	SPATA7	HP:0000541	Retinal detachment	HP:0040283	ORPHA:364055
55812	SPATA7	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
55812	SPATA7	HP:0000533	Chorioretinal atrophy	HP:0040283	ORPHA:364055
55812	SPATA7	HP:0000550	Undetectable electroretinogram	HP:0040282	ORPHA:364055
55812	SPATA7	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
55812	SPATA7	HP:0000551	Color vision defect	HP:0040282	ORPHA:364055
55812	SPATA7	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
55812	SPATA7	HP:0000546	Retinal degeneration	HP:0040282	ORPHA:364055
55812	SPATA7	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
55812	SPATA7	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:364055
55812	SPATA7	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
55812	SPATA7	HP:0000543	Optic disc pallor	1/1	OMIM:180100
55812	SPATA7	HP:0000545	Myopia	-	OMIM:180100
55812	SPATA7	HP:0000545	Myopia	HP:0040283	ORPHA:364055
55814	BDP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618257
55814	BDP1	HP:0011463	Childhood onset	4/4	OMIM:618257
55814	BDP1	HP:0000407	Sensorineural hearing impairment	4/4	OMIM:618257
55823	VPS11	HP:0002465	Poor speech	-	OMIM:616683
55823	VPS11	HP:0002465	Poor speech	HP:0040282	ORPHA:466934
55823	VPS11	HP:0002451	Limb dystonia	1/1	OMIM:619637
55823	VPS11	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:466934
55823	VPS11	HP:0007281	Developmental stagnation	-	OMIM:616683
55823	VPS11	HP:0001272	Cerebellar atrophy	-	OMIM:616683
55823	VPS11	HP:0001272	Cerebellar atrophy	HP:0040284	ORPHA:466934
55823	VPS11	HP:0001250	Seizure	HP:0040281	ORPHA:466934
55823	VPS11	HP:0001252	Hypotonia	HP:0040281	ORPHA:466934
55823	VPS11	HP:0001252	Hypotonia	-	OMIM:616683
55823	VPS11	HP:0001249	Intellectual disability	HP:0040281	ORPHA:466934
55823	VPS11	HP:0001249	Intellectual disability	-	OMIM:616683
55823	VPS11	HP:0001260	Dysarthria	1/1	OMIM:619637
55823	VPS11	HP:0001263	Global developmental delay	HP:0040281	ORPHA:466934
55823	VPS11	HP:0001263	Global developmental delay	-	OMIM:616683
55823	VPS11	HP:0001257	Spasticity	-	OMIM:616683
55823	VPS11	HP:0001257	Spasticity	HP:0040282	ORPHA:466934
55823	VPS11	HP:0002518	Abnormal periventricular white matter morphology	HP:0040282	ORPHA:466934
55823	VPS11	HP:0012049	Laryngeal dystonia	1/1	OMIM:619637
55823	VPS11	HP:0001371	Flexion contracture	20/20	OMIM:616683
55823	VPS11	HP:0000011	Neurogenic bladder	-	OMIM:616683
55823	VPS11	HP:0000011	Neurogenic bladder	HP:0040282	ORPHA:466934
55823	VPS11	HP:0001344	Absent speech	-	OMIM:616683
55823	VPS11	HP:0001344	Absent speech	HP:0040282	ORPHA:466934
55823	VPS11	HP:0000007	Autosomal recessive inheritance	-	OMIM:619637
55823	VPS11	HP:0000007	Autosomal recessive inheritance	-	OMIM:616683
55823	VPS11	HP:0007663	Reduced visual acuity	-	OMIM:616683
55823	VPS11	HP:0008936	Axial hypotonia	-	OMIM:616683
55823	VPS11	HP:0001433	Hepatosplenomegaly	-	ORPHA:466934
55823	VPS11	HP:0002019	Constipation	-	OMIM:616683
55823	VPS11	HP:0002019	Constipation	HP:0040282	ORPHA:466934
55823	VPS11	HP:0002015	Dysphagia	1/1	OMIM:619637
55823	VPS11	HP:0005968	Temperature instability	-	OMIM:616683
55823	VPS11	HP:0002079	Hypoplasia of the corpus callosum	20/20	OMIM:616683
55823	VPS11	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:466934
55823	VPS11	HP:0002119	Ventriculomegaly	-	OMIM:616683
55823	VPS11	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:466934
55823	VPS11	HP:0002188	Delayed CNS myelination	HP:0040282	ORPHA:466934
55823	VPS11	HP:0100704	Cerebral visual impairment	-	OMIM:616683
55823	VPS11	HP:0100704	Cerebral visual impairment	HP:0040281	ORPHA:466934
55823	VPS11	HP:0002384	Focal impaired awareness seizure	-	OMIM:616683
55823	VPS11	HP:0002395	Lower limb hyperreflexia	1/1	OMIM:619637
55823	VPS11	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:466934
55823	VPS11	HP:0007204	Diffuse white matter abnormalities	HP:0040282	ORPHA:466934
55823	VPS11	HP:0006808	Cerebral hypomyelination	-	OMIM:616683
55823	VPS11	HP:0000648	Optic atrophy	-	OMIM:616683
55823	VPS11	HP:0000648	Optic atrophy	HP:0040282	ORPHA:466934
55823	VPS11	HP:0011344	Severe global developmental delay	-	OMIM:616683
55823	VPS11	HP:0011462	Young adult onset	1/1	OMIM:619637
55823	VPS11	HP:0012753	T2 hypointense basal ganglia	1/1	OMIM:619637
55823	VPS11	HP:0000280	Coarse facial features	-	ORPHA:466934
55823	VPS11	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:466934
55823	VPS11	HP:0000252	Microcephaly	HP:0040281	ORPHA:466934
55823	VPS11	HP:0000252	Microcephaly	-	OMIM:616683
55823	VPS11	HP:0001510	Growth delay	HP:0040282	ORPHA:466934
55823	VPS11	HP:0000365	Hearing impairment	-	OMIM:616683
55823	VPS11	HP:0012332	Abnormal autonomic nervous system physiology	-	OMIM:616683
55823	VPS11	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040282	ORPHA:466934
55823	VPS11	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:466934
55823	VPS11	HP:0012448	Delayed myelination	-	OMIM:616683
55823	VPS11	HP:0012444	Brain atrophy	1/1	OMIM:619637
55823	VPS11	HP:0000473	Torticollis	1/1	OMIM:619637
55823	VPS11	HP:0005484	Secondary microcephaly	-	OMIM:616683
55830	GLT8D1	HP:0002463	Language impairment	HP:0040283	ORPHA:803
55830	GLT8D1	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0001257	Spasticity	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
55830	GLT8D1	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
55830	GLT8D1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
55830	GLT8D1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
55830	GLT8D1	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
55830	GLT8D1	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
55830	GLT8D1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
55830	GLT8D1	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
55830	GLT8D1	HP:0003470	Paralysis	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
55830	GLT8D1	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
55830	GLT8D1	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
55830	GLT8D1	HP:0002307	Drooling	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
55830	GLT8D1	HP:0004326	Cachexia	HP:0040283	ORPHA:803
55830	GLT8D1	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0000739	Anxiety	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0000716	Depression	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
55830	GLT8D1	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0012378	Fatigue	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0001824	Weight loss	HP:0040282	ORPHA:803
55830	GLT8D1	HP:0012531	Pain	HP:0040282	ORPHA:803
55835	CPAP	HP:0002472	Small cerebral cortex	-	OMIM:608393
55835	CPAP	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
55835	CPAP	HP:0008551	Microtia	2/2	OMIM:608393
55835	CPAP	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55835	CPAP	HP:0001293	Cranial nerve compression	-	OMIM:131300
55835	CPAP	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
55835	CPAP	HP:0001256	Intellectual disability, mild	1/5	OMIM:613676
55835	CPAP	HP:0001250	Seizure	2/2	OMIM:608393
55835	CPAP	HP:0001252	Hypotonia	2/7	OMIM:615777
55835	CPAP	HP:0001249	Intellectual disability	HP:0040281	ORPHA:808
55835	CPAP	HP:0001249	Intellectual disability	5/7	OMIM:615777
55835	CPAP	HP:0001263	Global developmental delay	2/2	OMIM:608393
55835	CPAP	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
55835	CPAP	HP:0001263	Global developmental delay	-	OMIM:615777
55835	CPAP	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
55835	CPAP	HP:0002515	Waddling gait	54/102	OMIM:131300
55835	CPAP	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
55835	CPAP	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:808
55835	CPAP	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:808
55835	CPAP	HP:0001382	Joint hypermobility	-	OMIM:615777
55835	CPAP	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
55835	CPAP	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:808
55835	CPAP	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55835	CPAP	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55835	CPAP	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:808
55835	CPAP	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55835	CPAP	HP:0001324	Muscle weakness	40/96	OMIM:131300
55835	CPAP	HP:0001344	Absent speech	1/3	OMIM:608393
55835	CPAP	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55835	CPAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55835	CPAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:608393
55835	CPAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:613676
55835	CPAP	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55835	CPAP	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
55835	CPAP	HP:0002650	Scoliosis	HP:0040283	ORPHA:808
55835	CPAP	HP:0002650	Scoliosis	12/14	OMIM:131300
55835	CPAP	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55835	CPAP	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55835	CPAP	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55835	CPAP	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55835	CPAP	HP:0000175	Cleft palate	2/7	OMIM:615777
55835	CPAP	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
55835	CPAP	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:808
55835	CPAP	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:808
55835	CPAP	HP:0003388	Easy fatigability	36/76	OMIM:131300
55835	CPAP	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55835	CPAP	HP:0010455	Steep acetabular roof	1/2	OMIM:613676
55835	CPAP	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
55835	CPAP	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:808
55835	CPAP	HP:0003577	Congenital onset	2/2	OMIM:613676
55835	CPAP	HP:0003577	Congenital onset	-	OMIM:608393
55835	CPAP	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:808
55835	CPAP	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
55835	CPAP	HP:0003510	Severe short stature	7/7	OMIM:615777
55835	CPAP	HP:0003510	Severe short stature	5/5	OMIM:613676
55835	CPAP	HP:0002342	Intellectual disability, moderate	2/2	OMIM:608393
55835	CPAP	HP:0002315	Headache	-	OMIM:131300
55835	CPAP	HP:0004976	Knee dislocation	6/7	OMIM:615777
55835	CPAP	HP:0009804	Tooth agenesis	HP:0040282	ORPHA:808
55835	CPAP	HP:0009803	Short phalanx of finger	-	OMIM:615777
55835	CPAP	HP:0009763	Limb pain	63/92	OMIM:131300
55835	CPAP	HP:0003621	Juvenile onset	-	OMIM:131300
55835	CPAP	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55835	CPAP	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:808
55835	CPAP	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55835	CPAP	HP:6001056	Out-toeing	-	OMIM:131300
55835	CPAP	HP:0000651	Diplopia	-	OMIM:131300
55835	CPAP	HP:0001956	Truncal obesity	2/7	OMIM:615777
55835	CPAP	HP:0001903	Anemia	HP:0040283	OMIM:131300
55835	CPAP	HP:0010049	Short metacarpal	-	OMIM:615777
55835	CPAP	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:808
55835	CPAP	HP:0011342	Mild global developmental delay	HP:0040281	ORPHA:808
55835	CPAP	HP:0000678	Dental crowding	-	OMIM:615777
55835	CPAP	HP:0000670	Carious teeth	-	OMIM:131300
55835	CPAP	HP:0011304	Broad thumb	2/7	OMIM:615777
55835	CPAP	HP:0000668	Hypodontia	-	OMIM:615777
55835	CPAP	HP:0000664	Synophrys	-	OMIM:615777
55835	CPAP	HP:0004325	Decreased body weight	2/2	OMIM:613676
55835	CPAP	HP:0004322	Short stature	HP:0040281	ORPHA:808
55835	CPAP	HP:0004322	Short stature	HP:0040281	ORPHA:2512
55835	CPAP	HP:0004326	Cachexia	HP:0040281	ORPHA:808
55835	CPAP	HP:0004396	Poor appetite	-	OMIM:131300
55835	CPAP	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55835	CPAP	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55835	CPAP	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55835	CPAP	HP:0003026	Short long bone	7/7	OMIM:615777
55835	CPAP	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55835	CPAP	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55835	CPAP	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55835	CPAP	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55835	CPAP	HP:0000750	Delayed speech and language development	-	OMIM:615777
55835	CPAP	HP:0011461	Fetal onset	7/7	OMIM:615777
55835	CPAP	HP:0000774	Narrow chest	2/7	OMIM:615777
55835	CPAP	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
55835	CPAP	HP:0000926	Platyspondyly	1/7	OMIM:615777
55835	CPAP	HP:0003180	Flat acetabular roof	-	OMIM:615777
55835	CPAP	HP:0004482	Relative macrocephaly	-	OMIM:615777
55835	CPAP	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55835	CPAP	HP:0000878	11 pairs of ribs	1/5	OMIM:613676
55835	CPAP	HP:0000823	Delayed puberty	-	OMIM:131300
55835	CPAP	HP:0000894	Short clavicles	-	OMIM:615777
55835	CPAP	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55835	CPAP	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55835	CPAP	HP:0000286	Epicanthus	1/7	OMIM:615777
55835	CPAP	HP:0000280	Coarse facial features	2/7	OMIM:615777
55835	CPAP	HP:0000278	Retrognathia	2/2	OMIM:613676
55835	CPAP	HP:0000275	Narrow face	HP:0040281	ORPHA:808
55835	CPAP	HP:0002827	Hip dislocation	3/7	OMIM:615777
55835	CPAP	HP:0000252	Microcephaly	HP:0040281	ORPHA:808
55835	CPAP	HP:0000252	Microcephaly	3/3	OMIM:608393
55835	CPAP	HP:0000252	Microcephaly	2/2	OMIM:613676
55835	CPAP	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
55835	CPAP	HP:0000252	Microcephaly	-	OMIM:615777
55835	CPAP	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
55835	CPAP	HP:0001525	Severe failure to thrive	1/2	OMIM:613676
55835	CPAP	HP:0002857	Genu valgum	-	OMIM:131300
55835	CPAP	HP:0001533	Slender build	-	OMIM:131300
55835	CPAP	HP:0001511	Intrauterine growth retardation	2/2	OMIM:613676
55835	CPAP	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:808
55835	CPAP	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55835	CPAP	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
55835	CPAP	HP:0007807	Optic nerve compression	-	OMIM:131300
55835	CPAP	HP:0000387	Absent earlobe	HP:0040282	ORPHA:808
55835	CPAP	HP:0012368	Flat face	7/7	OMIM:615777
55835	CPAP	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55835	CPAP	HP:0000363	Abnormal earlobe morphology	HP:0040282	ORPHA:808
55835	CPAP	HP:0000365	Hearing impairment	10/67	OMIM:131300
55835	CPAP	HP:0000369	Low-set ears	2/2	OMIM:613676
55835	CPAP	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
55835	CPAP	HP:0000343	Long philtrum	1/7	OMIM:615777
55835	CPAP	HP:0011001	Increased bone mineral density	-	OMIM:131300
55835	CPAP	HP:0000348	High forehead	2/2	OMIM:613676
55835	CPAP	HP:0000347	Micrognathia	HP:0040281	ORPHA:808
55835	CPAP	HP:0000316	Hypertelorism	2/2	OMIM:608393
55835	CPAP	HP:0000311	Round face	2/7	OMIM:615777
55835	CPAP	HP:0002970	Genu varum	-	OMIM:615777
55835	CPAP	HP:0000303	Mandibular prognathia	-	OMIM:131300
55835	CPAP	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55835	CPAP	HP:0000486	Strabismus	2/2	OMIM:608393
55835	CPAP	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:808
55835	CPAP	HP:0000456	Bifid nasal tip	2/2	OMIM:608393
55835	CPAP	HP:0000470	Short neck	1/7	OMIM:615777
55835	CPAP	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55835	CPAP	HP:0001763	Pes planus	1/7	OMIM:615777
55835	CPAP	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:808
55835	CPAP	HP:0000430	Underdeveloped nasal alae	2/2	OMIM:613676
55835	CPAP	HP:0001840	Metatarsus adductus	-	OMIM:615777
55835	CPAP	HP:0001852	Sandal gap	HP:0040281	ORPHA:808
55835	CPAP	HP:0000520	Proptosis	2/4	OMIM:131300
55835	CPAP	HP:0000520	Proptosis	7/7	OMIM:615777
55835	CPAP	HP:0000501	Glaucoma	HP:0040282	ORPHA:808
55835	CPAP	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
55835	CPAP	HP:0000592	Blue sclerae	2/7	OMIM:615777
55835	CPAP	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55835	CPAP	HP:0012514	Lower limb pain	4/4	OMIM:131300
55851	PSENEN	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:79145
55851	PSENEN	HP:0100838	Recurrent cutaneous abscess formation	3/3	OMIM:613736
55851	PSENEN	HP:0001231	Abnormal fingernail morphology	HP:0040283	ORPHA:79145
55851	PSENEN	HP:0001369	Arthritis	HP:0040284	ORPHA:79145
55851	PSENEN	HP:0007502	Follicular hyperkeratosis	-	OMIM:613736
55851	PSENEN	HP:0007456	Progressive reticulate hyperpigmentation	HP:0040281	ORPHA:79145
55851	PSENEN	HP:0000006	Autosomal dominant inheritance	-	OMIM:613736
55851	PSENEN	HP:0025473	Hyperpigmented papule	HP:0040283	ORPHA:79145
55851	PSENEN	HP:0031293	Digital pitting scar	HP:0040283	ORPHA:79145
55851	PSENEN	HP:0002046	Heat intolerance	HP:0040283	ORPHA:79145
55851	PSENEN	HP:0010610	Palmar pits	HP:0040284	ORPHA:79145
55851	PSENEN	HP:0020073	Hypopigmented macule	HP:0040284	ORPHA:79145
55851	PSENEN	HP:0001034	Hypermelanotic macule	HP:0040283	ORPHA:79145
55851	PSENEN	HP:0200037	Skin vesicle	HP:0040284	ORPHA:79145
55851	PSENEN	HP:0200040	Epidermoid cyst	HP:0040284	ORPHA:79145
55851	PSENEN	HP:0003621	Juvenile onset	3/3	OMIM:613736
55851	PSENEN	HP:0011354	Generalized abnormality of skin	HP:0040284	ORPHA:79145
55851	PSENEN	HP:0009123	Mixed hypo- and hyperpigmentation of the skin	HP:0040284	ORPHA:79145
55851	PSENEN	HP:0012855	Scrotal hyperpigmentation	HP:0040283	ORPHA:79145
55851	PSENEN	HP:0045059	Hyperkeratotic papule	HP:0040283	ORPHA:79145
55851	PSENEN	HP:0000989	Pruritus	HP:0040283	ORPHA:79145
55851	PSENEN	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:79145
55851	PSENEN	HP:0040154	Acne inversa	3/3	OMIM:613736
55851	PSENEN	HP:0040154	Acne inversa	HP:0040283	ORPHA:79145
55851	PSENEN	HP:0002860	Squamous cell carcinoma	-	OMIM:613736
55851	PSENEN	HP:0030052	Inguinal freckling	HP:0040282	ORPHA:79145
55851	PSENEN	HP:0031525	Keratoacanthoma	HP:0040284	ORPHA:79145
55851	PSENEN	HP:0031447	Penile freckling	HP:0040283	ORPHA:79145
55851	PSENEN	HP:0012322	Perifolliculitis	-	OMIM:613736
55851	PSENEN	HP:0011132	Chronic furunculosis	3/3	OMIM:613736
55851	PSENEN	HP:0000464	Abnormality of the neck	HP:0040282	ORPHA:79145
55851	PSENEN	HP:0030442	Anal margin squamous cell carcinoma	HP:0040284	ORPHA:79145
55851	PSENEN	HP:0030350	Erythematous papule	HP:0040283	ORPHA:79145
55857	KIZ	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
55857	KIZ	HP:0001133	Constriction of peripheral visual field	2/3	OMIM:615780
55857	KIZ	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
55857	KIZ	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
55857	KIZ	HP:0000007	Autosomal recessive inheritance	-	OMIM:615780
55857	KIZ	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
55857	KIZ	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
55857	KIZ	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
55857	KIZ	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
55857	KIZ	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
55857	KIZ	HP:0007663	Reduced visual acuity	2/3	OMIM:615780
55857	KIZ	HP:0003621	Juvenile onset	8/19	OMIM:180100
55857	KIZ	HP:0003621	Juvenile onset	3/3	OMIM:615780
55857	KIZ	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
55857	KIZ	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
55857	KIZ	HP:0000618	Blindness	HP:0040281	ORPHA:791
55857	KIZ	HP:0000613	Photophobia	HP:0040281	ORPHA:791
55857	KIZ	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
55857	KIZ	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
55857	KIZ	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
55857	KIZ	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
55857	KIZ	HP:0000662	Nyctalopia	3/3	OMIM:615780
55857	KIZ	HP:0000662	Nyctalopia	26/28	OMIM:180100
55857	KIZ	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
55857	KIZ	HP:0011463	Childhood onset	3/19	OMIM:180100
55857	KIZ	HP:0011462	Young adult onset	8/19	OMIM:180100
55857	KIZ	HP:0030786	Photopsia	HP:0040283	ORPHA:791
55857	KIZ	HP:0034272	Perifoveal hypoautofluorescence	1/1	OMIM:615780
55857	KIZ	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
55857	KIZ	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
55857	KIZ	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
55857	KIZ	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
55857	KIZ	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
55857	KIZ	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
55857	KIZ	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
55857	KIZ	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
55857	KIZ	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
55857	KIZ	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
55857	KIZ	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
55857	KIZ	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
55857	KIZ	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
55857	KIZ	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
55857	KIZ	HP:0000510	Rod-cone dystrophy	3/3	OMIM:615780
55857	KIZ	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
55857	KIZ	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
55857	KIZ	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
55857	KIZ	HP:0000580	Pigmentary retinopathy	3/3	OMIM:615780
55857	KIZ	HP:0000575	Scotoma	5/18	OMIM:180100
55857	KIZ	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
55857	KIZ	HP:0000550	Undetectable electroretinogram	1/3	OMIM:615780
55857	KIZ	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
55857	KIZ	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
55857	KIZ	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
55857	KIZ	HP:0000543	Optic disc pallor	1/1	OMIM:180100
55857	KIZ	HP:0000545	Myopia	-	OMIM:180100
55858	TMEM165	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55858	TMEM165	HP:0001293	Cranial nerve compression	-	OMIM:131300
55858	TMEM165	HP:0001250	Seizure	1/5	OMIM:614727
55858	TMEM165	HP:0001252	Hypotonia	4/4	OMIM:614727
55858	TMEM165	HP:0001252	Hypotonia	2/7	OMIM:615777
55858	TMEM165	HP:0001249	Intellectual disability	5/7	OMIM:615777
55858	TMEM165	HP:0001263	Global developmental delay	-	OMIM:614727
55858	TMEM165	HP:0001263	Global developmental delay	-	OMIM:615777
55858	TMEM165	HP:0002515	Waddling gait	54/102	OMIM:131300
55858	TMEM165	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:614727
55858	TMEM165	HP:0001382	Joint hypermobility	3/3	OMIM:614727
55858	TMEM165	HP:0001382	Joint hypermobility	-	OMIM:615777
55858	TMEM165	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55858	TMEM165	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55858	TMEM165	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55858	TMEM165	HP:0002656	Epiphyseal dysplasia	-	OMIM:614727
55858	TMEM165	HP:0001324	Muscle weakness	40/96	OMIM:131300
55858	TMEM165	HP:0001324	Muscle weakness	-	OMIM:614727
55858	TMEM165	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55858	TMEM165	HP:0000007	Autosomal recessive inheritance	-	OMIM:614727
55858	TMEM165	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55858	TMEM165	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55858	TMEM165	HP:0002650	Scoliosis	12/14	OMIM:131300
55858	TMEM165	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55858	TMEM165	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55858	TMEM165	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55858	TMEM165	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55858	TMEM165	HP:0000175	Cleft palate	2/7	OMIM:615777
55858	TMEM165	HP:0002751	Kyphoscoliosis	-	OMIM:614727
55858	TMEM165	HP:0011800	Midface retrusion	HP:0040283	OMIM:614727
55858	TMEM165	HP:0003388	Easy fatigability	36/76	OMIM:131300
55858	TMEM165	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55858	TMEM165	HP:0002240	Hepatomegaly	4/4	OMIM:614727
55858	TMEM165	HP:0003510	Severe short stature	7/7	OMIM:615777
55858	TMEM165	HP:0002315	Headache	-	OMIM:131300
55858	TMEM165	HP:0004976	Knee dislocation	6/7	OMIM:615777
55858	TMEM165	HP:0009803	Short phalanx of finger	-	OMIM:615777
55858	TMEM165	HP:0009763	Limb pain	63/92	OMIM:131300
55858	TMEM165	HP:0003621	Juvenile onset	-	OMIM:131300
55858	TMEM165	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55858	TMEM165	HP:0005575	Hemolytic-uremic syndrome	1/4	OMIM:614727
55858	TMEM165	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55858	TMEM165	HP:6001056	Out-toeing	-	OMIM:131300
55858	TMEM165	HP:0000651	Diplopia	-	OMIM:131300
55858	TMEM165	HP:0001955	Unexplained fevers	1/4	OMIM:614727
55858	TMEM165	HP:0001956	Truncal obesity	2/7	OMIM:615777
55858	TMEM165	HP:0001903	Anemia	HP:0040283	OMIM:131300
55858	TMEM165	HP:0010049	Short metacarpal	-	OMIM:615777
55858	TMEM165	HP:0000678	Dental crowding	-	OMIM:615777
55858	TMEM165	HP:0000670	Carious teeth	-	OMIM:131300
55858	TMEM165	HP:0011304	Broad thumb	2/7	OMIM:615777
55858	TMEM165	HP:0000668	Hypodontia	-	OMIM:615777
55858	TMEM165	HP:0000664	Synophrys	-	OMIM:615777
55858	TMEM165	HP:0004322	Short stature	-	OMIM:614727
55858	TMEM165	HP:0031956	Elevated circulating aspartate aminotransferase concentration	4/4	OMIM:614727
55858	TMEM165	HP:0031964	Elevated circulating alanine aminotransferase concentration	3/4	OMIM:614727
55858	TMEM165	HP:0004396	Poor appetite	-	OMIM:131300
55858	TMEM165	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55858	TMEM165	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55858	TMEM165	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55858	TMEM165	HP:0003026	Short long bone	7/7	OMIM:615777
55858	TMEM165	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55858	TMEM165	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55858	TMEM165	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55858	TMEM165	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55858	TMEM165	HP:0000750	Delayed speech and language development	-	OMIM:615777
55858	TMEM165	HP:0000705	Amelogenesis imperfecta	HP:0040283	OMIM:614727
55858	TMEM165	HP:0011461	Fetal onset	7/7	OMIM:615777
55858	TMEM165	HP:0000774	Narrow chest	2/7	OMIM:615777
55858	TMEM165	HP:0000926	Platyspondyly	1/7	OMIM:615777
55858	TMEM165	HP:0003180	Flat acetabular roof	-	OMIM:615777
55858	TMEM165	HP:0004482	Relative macrocephaly	-	OMIM:615777
55858	TMEM165	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55858	TMEM165	HP:0000823	Delayed puberty	-	OMIM:131300
55858	TMEM165	HP:0000894	Short clavicles	-	OMIM:615777
55858	TMEM165	HP:0003236	Elevated circulating creatine kinase concentration	4/4	OMIM:614727
55858	TMEM165	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55858	TMEM165	HP:0100252	Diaphyseal dysplasia	3/3	OMIM:614727
55858	TMEM165	HP:0100255	Metaphyseal dysplasia	3/3	OMIM:614727
55858	TMEM165	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55858	TMEM165	HP:0000939	Osteoporosis	3/3	OMIM:614727
55858	TMEM165	HP:0000286	Epicanthus	1/7	OMIM:615777
55858	TMEM165	HP:0000280	Coarse facial features	2/7	OMIM:615777
55858	TMEM165	HP:0000272	Malar flattening	3/3	OMIM:614727
55858	TMEM165	HP:0002827	Hip dislocation	3/7	OMIM:615777
55858	TMEM165	HP:0000252	Microcephaly	-	OMIM:615777
55858	TMEM165	HP:0002857	Genu valgum	-	OMIM:131300
55858	TMEM165	HP:0001533	Slender build	-	OMIM:131300
55858	TMEM165	HP:0001508	Failure to thrive	5/5	OMIM:614727
55858	TMEM165	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55858	TMEM165	HP:0001510	Growth delay	5/5	OMIM:614727
55858	TMEM165	HP:0007807	Optic nerve compression	-	OMIM:131300
55858	TMEM165	HP:0012368	Flat face	7/7	OMIM:615777
55858	TMEM165	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55858	TMEM165	HP:0000365	Hearing impairment	10/67	OMIM:131300
55858	TMEM165	HP:0000358	Posteriorly rotated ears	-	OMIM:614727
55858	TMEM165	HP:0000369	Low-set ears	-	OMIM:614727
55858	TMEM165	HP:0000343	Long philtrum	1/7	OMIM:615777
55858	TMEM165	HP:0011001	Increased bone mineral density	-	OMIM:131300
55858	TMEM165	HP:0000311	Round face	2/7	OMIM:615777
55858	TMEM165	HP:0002970	Genu varum	-	OMIM:615777
55858	TMEM165	HP:0000303	Mandibular prognathia	-	OMIM:131300
55858	TMEM165	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55858	TMEM165	HP:0000470	Short neck	1/7	OMIM:615777
55858	TMEM165	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55858	TMEM165	HP:0001763	Pes planus	1/7	OMIM:615777
55858	TMEM165	HP:0005484	Secondary microcephaly	4/4	OMIM:614727
55858	TMEM165	HP:0001840	Metatarsus adductus	-	OMIM:615777
55858	TMEM165	HP:0000520	Proptosis	2/4	OMIM:131300
55858	TMEM165	HP:0000520	Proptosis	7/7	OMIM:615777
55858	TMEM165	HP:0000592	Blue sclerae	2/7	OMIM:615777
55858	TMEM165	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55858	TMEM165	HP:0012514	Lower limb pain	4/4	OMIM:131300
55858	TMEM165	HP:0001873	Thrombocytopenia	3/4	OMIM:614727
55863	TMEM126B	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
55863	TMEM126B	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:618250
55863	TMEM126B	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0003750	Increased muscle fatiguability	3/3	OMIM:618250
55863	TMEM126B	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0003738	Exercise-induced myalgia	3/3	OMIM:618250
55863	TMEM126B	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0003701	Proximal muscle weakness	2/3	OMIM:618250
55863	TMEM126B	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0001324	Muscle weakness	-	OMIM:618250
55863	TMEM126B	HP:0000007	Autosomal recessive inheritance	-	OMIM:618250
55863	TMEM126B	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0003348	Hyperalaninemia	3/3	OMIM:618250
55863	TMEM126B	HP:0003326	Myalgia	-	OMIM:618250
55863	TMEM126B	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0002013	Vomiting	1/3	OMIM:618250
55863	TMEM126B	HP:0002094	Dyspnea	1/3	OMIM:618250
55863	TMEM126B	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0003388	Easy fatigability	-	OMIM:618250
55863	TMEM126B	HP:0002151	Increased circulating lactate concentration	3/3	OMIM:618250
55863	TMEM126B	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
55863	TMEM126B	HP:0011923	Decreased activity of mitochondrial complex I	3/3	OMIM:618250
55863	TMEM126B	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0003546	Exercise intolerance	3/3	OMIM:618250
55863	TMEM126B	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
55863	TMEM126B	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0003648	Lacticaciduria	1/3	OMIM:618250
55863	TMEM126B	HP:0003621	Juvenile onset	1/3	OMIM:618250
55863	TMEM126B	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0001962	Palpitations	1/3	OMIM:618250
55863	TMEM126B	HP:0000618	Blindness	HP:0040283	ORPHA:2609
55863	TMEM126B	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0011463	Childhood onset	1/3	OMIM:618250
55863	TMEM126B	HP:0030774	Mitochondrial swelling	1/1	OMIM:618250
55863	TMEM126B	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0003128	Lactic acidosis	1/3	OMIM:618250
55863	TMEM126B	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
55863	TMEM126B	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
55863	TMEM126B	HP:0032653	Elevated lactate:pyruvate ratio	2/3	OMIM:618250
55863	TMEM126B	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0001508	Failure to thrive	-	OMIM:618250
55863	TMEM126B	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0012378	Fatigue	1/3	OMIM:618250
55863	TMEM126B	HP:0001627	Abnormal heart morphology	-	OMIM:618250
55863	TMEM126B	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:618250
55863	TMEM126B	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0025710	Late young adult onset	1/3	OMIM:618250
55863	TMEM126B	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
55863	TMEM126B	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
55869	HDAC8	HP:0001182	Tapered finger	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0002465	Poor speech	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0009909	Uplifted earlobe	-	ORPHA:3459
55869	HDAC8	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:199
55869	HDAC8	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:199
55869	HDAC8	HP:0008551	Microtia	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0003764	Nevus	-	OMIM:300882
55869	HDAC8	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55869	HDAC8	HP:0001293	Cranial nerve compression	-	OMIM:131300
55869	HDAC8	HP:0001290	Generalized hypotonia	-	OMIM:300882
55869	HDAC8	HP:0001276	Hypertonia	HP:0040281	ORPHA:199
55869	HDAC8	HP:0001250	Seizure	-	OMIM:300882
55869	HDAC8	HP:0001250	Seizure	HP:0040283	ORPHA:3459
55869	HDAC8	HP:0001250	Seizure	HP:0040283	ORPHA:199
55869	HDAC8	HP:0002580	Volvulus	HP:0040283	ORPHA:199
55869	HDAC8	HP:0001252	Hypotonia	HP:0040283	ORPHA:199
55869	HDAC8	HP:0001252	Hypotonia	2/7	OMIM:615777
55869	HDAC8	HP:0001249	Intellectual disability	-	OMIM:300882
55869	HDAC8	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0001249	Intellectual disability	HP:0040281	ORPHA:199
55869	HDAC8	HP:0001249	Intellectual disability	5/7	OMIM:615777
55869	HDAC8	HP:0001263	Global developmental delay	5/5	OMIM:300882
55869	HDAC8	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0001263	Global developmental delay	-	OMIM:615777
55869	HDAC8	HP:0002557	Hypoplastic nipples	HP:0040282	ORPHA:199
55869	HDAC8	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:199
55869	HDAC8	HP:0008734	Decreased testicular size	-	OMIM:300882
55869	HDAC8	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:199
55869	HDAC8	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:199
55869	HDAC8	HP:0002553	Highly arched eyebrow	5/5	OMIM:300882
55869	HDAC8	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:199
55869	HDAC8	HP:0002515	Waddling gait	54/102	OMIM:131300
55869	HDAC8	HP:0003828	Variable expressivity	-	OMIM:300882
55869	HDAC8	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:199
55869	HDAC8	HP:0000059	Hypoplastic labia majora	HP:0040282	ORPHA:199
55869	HDAC8	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:199
55869	HDAC8	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:3459
55869	HDAC8	HP:0001377	Limited elbow extension	4/5	OMIM:300882
55869	HDAC8	HP:0000054	Micropenis	-	OMIM:300882
55869	HDAC8	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:199
55869	HDAC8	HP:0001387	Joint stiffness	HP:0040282	ORPHA:199
55869	HDAC8	HP:0001382	Joint hypermobility	-	OMIM:615777
55869	HDAC8	HP:0000047	Hypospadias	HP:0040282	ORPHA:199
55869	HDAC8	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55869	HDAC8	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:199
55869	HDAC8	HP:0000028	Cryptorchidism	-	OMIM:300882
55869	HDAC8	HP:0008897	Postnatal growth retardation	-	OMIM:300882
55869	HDAC8	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55869	HDAC8	HP:0008872	Feeding difficulties in infancy	2/4	OMIM:300882
55869	HDAC8	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199
55869	HDAC8	HP:0008850	Severe postnatal growth retardation	HP:0040282	ORPHA:199
55869	HDAC8	HP:0001328	Specific learning disability	HP:0040283	ORPHA:3459
55869	HDAC8	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55869	HDAC8	HP:0001324	Muscle weakness	40/96	OMIM:131300
55869	HDAC8	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55869	HDAC8	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55869	HDAC8	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:199
55869	HDAC8	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55869	HDAC8	HP:0002650	Scoliosis	12/14	OMIM:131300
55869	HDAC8	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55869	HDAC8	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55869	HDAC8	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55869	HDAC8	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55869	HDAC8	HP:0012165	Oligodactyly	HP:0040283	ORPHA:199
55869	HDAC8	HP:0000175	Cleft palate	-	OMIM:300882
55869	HDAC8	HP:0000175	Cleft palate	2/7	OMIM:615777
55869	HDAC8	HP:0000175	Cleft palate	HP:0040283	ORPHA:199
55869	HDAC8	HP:0000135	Hypogonadism	-	OMIM:300882
55869	HDAC8	HP:0007665	Curly eyelashes	HP:0040281	ORPHA:199
55869	HDAC8	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:199
55869	HDAC8	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:199
55869	HDAC8	HP:0001423	X-linked dominant inheritance	-	OMIM:300882
55869	HDAC8	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:199
55869	HDAC8	HP:0001417	X-linked inheritance	-	OMIM:300882
55869	HDAC8	HP:0002714	Downturned corners of mouth	4/5	OMIM:300882
55869	HDAC8	HP:0002714	Downturned corners of mouth	HP:0040281	ORPHA:199
55869	HDAC8	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:199
55869	HDAC8	HP:0002020	Gastroesophageal reflux	-	OMIM:300882
55869	HDAC8	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:199
55869	HDAC8	HP:0003388	Easy fatigability	36/76	OMIM:131300
55869	HDAC8	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55869	HDAC8	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:199
55869	HDAC8	HP:0002119	Ventriculomegaly	3/5	OMIM:300882
55869	HDAC8	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:199
55869	HDAC8	HP:0009623	Proximal placement of thumb	HP:0040281	ORPHA:199
55869	HDAC8	HP:0009623	Proximal placement of thumb	5/5	OMIM:300882
55869	HDAC8	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:199
55869	HDAC8	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:199
55869	HDAC8	HP:0002230	Generalized hirsutism	HP:0040281	ORPHA:199
55869	HDAC8	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:199
55869	HDAC8	HP:0010620	Malar prominence	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0003510	Severe short stature	7/7	OMIM:615777
55869	HDAC8	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:199
55869	HDAC8	HP:0001007	Hirsutism	5/5	OMIM:300882
55869	HDAC8	HP:0002315	Headache	-	OMIM:131300
55869	HDAC8	HP:0004976	Knee dislocation	6/7	OMIM:615777
55869	HDAC8	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:199
55869	HDAC8	HP:0009803	Short phalanx of finger	-	OMIM:615777
55869	HDAC8	HP:0200055	Small hand	6/10	OMIM:300882
55869	HDAC8	HP:0200055	Small hand	HP:0040281	ORPHA:199
55869	HDAC8	HP:0200055	Small hand	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0009763	Limb pain	63/92	OMIM:131300
55869	HDAC8	HP:0003621	Juvenile onset	-	OMIM:131300
55869	HDAC8	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55869	HDAC8	HP:0004209	Clinodactyly of the 5th finger	5/5	OMIM:300882
55869	HDAC8	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:199
55869	HDAC8	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55869	HDAC8	HP:0000639	Nystagmus	HP:0040283	ORPHA:199
55869	HDAC8	HP:6001056	Out-toeing	-	OMIM:131300
55869	HDAC8	HP:0000651	Diplopia	-	OMIM:131300
55869	HDAC8	HP:0001956	Truncal obesity	HP:0040283	ORPHA:199
55869	HDAC8	HP:0001956	Truncal obesity	-	OMIM:300882
55869	HDAC8	HP:0001956	Truncal obesity	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0001956	Truncal obesity	2/7	OMIM:615777
55869	HDAC8	HP:0001903	Anemia	HP:0040283	OMIM:131300
55869	HDAC8	HP:0010049	Short metacarpal	-	OMIM:615777
55869	HDAC8	HP:0010034	Short 1st metacarpal	HP:0040281	ORPHA:199
55869	HDAC8	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:199
55869	HDAC8	HP:0000678	Dental crowding	-	OMIM:615777
55869	HDAC8	HP:0000687	Widely spaced teeth	-	OMIM:300882
55869	HDAC8	HP:0000687	Widely spaced teeth	HP:0040281	ORPHA:199
55869	HDAC8	HP:0000670	Carious teeth	-	OMIM:131300
55869	HDAC8	HP:0011304	Broad thumb	2/7	OMIM:615777
55869	HDAC8	HP:0000668	Hypodontia	-	OMIM:615777
55869	HDAC8	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0000667	Phthisis bulbi	HP:0040282	ORPHA:199
55869	HDAC8	HP:0000664	Synophrys	5/5	OMIM:300882
55869	HDAC8	HP:0000664	Synophrys	-	OMIM:615777
55869	HDAC8	HP:0000664	Synophrys	HP:0040281	ORPHA:199
55869	HDAC8	HP:0004322	Short stature	-	OMIM:300882
55869	HDAC8	HP:0004322	Short stature	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0004322	Short stature	HP:0040281	ORPHA:199
55869	HDAC8	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:199
55869	HDAC8	HP:0004396	Poor appetite	-	OMIM:131300
55869	HDAC8	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55869	HDAC8	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55869	HDAC8	HP:0003042	Elbow dislocation	HP:0040282	ORPHA:199
55869	HDAC8	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55869	HDAC8	HP:0003026	Short long bone	7/7	OMIM:615777
55869	HDAC8	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55869	HDAC8	HP:0000771	Gynecomastia	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55869	HDAC8	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:199
55869	HDAC8	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55869	HDAC8	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55869	HDAC8	HP:0000739	Anxiety	HP:0040282	ORPHA:199
55869	HDAC8	HP:0000750	Delayed speech and language development	-	OMIM:615777
55869	HDAC8	HP:0000717	Autism	HP:0040283	ORPHA:199
55869	HDAC8	HP:0000712	Emotional lability	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:199
55869	HDAC8	HP:0000708	Atypical behavior	-	OMIM:300882
55869	HDAC8	HP:0011461	Fetal onset	7/7	OMIM:615777
55869	HDAC8	HP:0000774	Narrow chest	2/7	OMIM:615777
55869	HDAC8	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:199
55869	HDAC8	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:199
55869	HDAC8	HP:0003196	Short nose	HP:0040281	ORPHA:199
55869	HDAC8	HP:0000926	Platyspondyly	1/7	OMIM:615777
55869	HDAC8	HP:0003180	Flat acetabular roof	-	OMIM:615777
55869	HDAC8	HP:0004482	Relative macrocephaly	-	OMIM:615777
55869	HDAC8	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55869	HDAC8	HP:0000823	Delayed puberty	-	OMIM:131300
55869	HDAC8	HP:0000823	Delayed puberty	HP:0040283	ORPHA:199
55869	HDAC8	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:199
55869	HDAC8	HP:0040082	Happy demeanor	-	OMIM:300882
55869	HDAC8	HP:0000894	Short clavicles	-	OMIM:615777
55869	HDAC8	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55869	HDAC8	HP:0010300	Abnormally low-pitched voice	HP:0040281	ORPHA:199
55869	HDAC8	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55869	HDAC8	HP:0000965	Cutis marmorata	HP:0040282	ORPHA:199
55869	HDAC8	HP:0000965	Cutis marmorata	2/5	OMIM:300882
55869	HDAC8	HP:0000286	Epicanthus	1/7	OMIM:615777
55869	HDAC8	HP:0000280	Coarse facial features	2/7	OMIM:615777
55869	HDAC8	HP:0000278	Retrognathia	-	OMIM:300882
55869	HDAC8	HP:0000294	Low anterior hairline	5/5	OMIM:300882
55869	HDAC8	HP:0000294	Low anterior hairline	HP:0040281	ORPHA:199
55869	HDAC8	HP:0002827	Hip dislocation	3/7	OMIM:615777
55869	HDAC8	HP:0002827	Hip dislocation	HP:0040283	ORPHA:199
55869	HDAC8	HP:0000252	Microcephaly	-	OMIM:300882
55869	HDAC8	HP:0000252	Microcephaly	HP:0040281	ORPHA:199
55869	HDAC8	HP:0000252	Microcephaly	-	OMIM:615777
55869	HDAC8	HP:0000248	Brachycephaly	3/5	OMIM:300882
55869	HDAC8	HP:0000248	Brachycephaly	HP:0040281	ORPHA:199
55869	HDAC8	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0000218	High palate	HP:0040281	ORPHA:199
55869	HDAC8	HP:0000218	High palate	3/5	OMIM:300882
55869	HDAC8	HP:0000233	Thin vermilion border	4/5	OMIM:300882
55869	HDAC8	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:199
55869	HDAC8	HP:0001557	Prenatal movement abnormality	HP:0040283	ORPHA:199
55869	HDAC8	HP:0002857	Genu valgum	-	OMIM:131300
55869	HDAC8	HP:0001533	Slender build	-	OMIM:131300
55869	HDAC8	HP:0001508	Failure to thrive	HP:0040282	ORPHA:199
55869	HDAC8	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55869	HDAC8	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:199
55869	HDAC8	HP:0007807	Optic nerve compression	-	OMIM:131300
55869	HDAC8	HP:0012368	Flat face	7/7	OMIM:615777
55869	HDAC8	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55869	HDAC8	HP:0000365	Hearing impairment	HP:0040283	OMIM:300882
55869	HDAC8	HP:0000365	Hearing impairment	10/67	OMIM:131300
55869	HDAC8	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:199
55869	HDAC8	HP:0000343	Long philtrum	4/5	OMIM:300882
55869	HDAC8	HP:0000343	Long philtrum	1/7	OMIM:615777
55869	HDAC8	HP:0000343	Long philtrum	HP:0040281	ORPHA:199
55869	HDAC8	HP:0011001	Increased bone mineral density	-	OMIM:131300
55869	HDAC8	HP:0000336	Prominent supraorbital ridges	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0000347	Micrognathia	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0000347	Micrognathia	HP:0040281	ORPHA:199
55869	HDAC8	HP:0000347	Micrognathia	4/5	OMIM:300882
55869	HDAC8	HP:0002983	Micromelia	HP:0040281	ORPHA:199
55869	HDAC8	HP:0000316	Hypertelorism	-	OMIM:300882
55869	HDAC8	HP:0000311	Round face	2/7	OMIM:615777
55869	HDAC8	HP:0002974	Radioulnar synostosis	HP:0040282	ORPHA:199
55869	HDAC8	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:199
55869	HDAC8	HP:0001622	Premature birth	HP:0040282	ORPHA:199
55869	HDAC8	HP:0002970	Genu varum	-	OMIM:615777
55869	HDAC8	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:199
55869	HDAC8	HP:0000303	Mandibular prognathia	-	OMIM:131300
55869	HDAC8	HP:0000498	Blepharitis	HP:0040282	ORPHA:199
55869	HDAC8	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:199
55869	HDAC8	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:199
55869	HDAC8	HP:0000400	Macrotia	HP:0040283	ORPHA:199
55869	HDAC8	HP:0005280	Depressed nasal bridge	-	OMIM:300882
55869	HDAC8	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55869	HDAC8	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:199
55869	HDAC8	HP:0000486	Strabismus	HP:0040283	ORPHA:199
55869	HDAC8	HP:0000482	Microcornea	HP:0040282	ORPHA:199
55869	HDAC8	HP:0000490	Deeply set eye	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0000490	Deeply set eye	-	OMIM:300882
55869	HDAC8	HP:0000463	Anteverted nares	2/5	OMIM:300882
55869	HDAC8	HP:0000463	Anteverted nares	HP:0040281	ORPHA:199
55869	HDAC8	HP:0000455	Broad nasal tip	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0000455	Broad nasal tip	-	OMIM:300882
55869	HDAC8	HP:0000470	Short neck	-	OMIM:300882
55869	HDAC8	HP:0000470	Short neck	1/7	OMIM:615777
55869	HDAC8	HP:0000470	Short neck	HP:0040281	ORPHA:199
55869	HDAC8	HP:0001770	Toe syndactyly	-	OMIM:300882
55869	HDAC8	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:199
55869	HDAC8	HP:0001773	Short foot	3/5	OMIM:300882
55869	HDAC8	HP:0001773	Short foot	HP:0040281	ORPHA:199
55869	HDAC8	HP:0001773	Short foot	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55869	HDAC8	HP:0001763	Pes planus	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0001763	Pes planus	1/7	OMIM:615777
55869	HDAC8	HP:0000453	Choanal atresia	HP:0040283	ORPHA:199
55869	HDAC8	HP:0000413	Atresia of the external auditory canal	HP:0040281	ORPHA:199
55869	HDAC8	HP:0001761	Pes cavus	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0000426	Prominent nasal bridge	4/5	OMIM:300882
55869	HDAC8	HP:0000518	Cataract	-	ORPHA:3459
55869	HDAC8	HP:0000518	Cataract	HP:0040283	ORPHA:199
55869	HDAC8	HP:0001840	Metatarsus adductus	-	OMIM:615777
55869	HDAC8	HP:0000527	Long eyelashes	5/5	OMIM:300882
55869	HDAC8	HP:0000527	Long eyelashes	HP:0040281	ORPHA:199
55869	HDAC8	HP:0000520	Proptosis	2/4	OMIM:131300
55869	HDAC8	HP:0000520	Proptosis	7/7	OMIM:615777
55869	HDAC8	HP:0000506	Telecanthus	-	OMIM:300882
55869	HDAC8	HP:0000508	Ptosis	HP:0040282	ORPHA:199
55869	HDAC8	HP:0000508	Ptosis	2/5	OMIM:300882
55869	HDAC8	HP:0000501	Glaucoma	HP:0040283	ORPHA:199
55869	HDAC8	HP:0000592	Blue sclerae	2/7	OMIM:615777
55869	HDAC8	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:3459
55869	HDAC8	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:199
55869	HDAC8	HP:0000540	Hypermetropia	-	ORPHA:3459
55869	HDAC8	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55869	HDAC8	HP:0001883	Talipes	HP:0040283	ORPHA:199
55869	HDAC8	HP:0012514	Lower limb pain	4/4	OMIM:131300
55869	HDAC8	HP:0000545	Myopia	-	OMIM:300882
55869	HDAC8	HP:0000545	Myopia	HP:0040282	ORPHA:199
55870	ASH1L	HP:0001250	Seizure	2/7	OMIM:617796
55870	ASH1L	HP:0001252	Hypotonia	1/2	OMIM:617796
55870	ASH1L	HP:0001249	Intellectual disability	7/7	OMIM:617796
55870	ASH1L	HP:0001263	Global developmental delay	2/2	OMIM:617796
55870	ASH1L	HP:0001262	Excessive daytime somnolence	1/5	OMIM:617796
55870	ASH1L	HP:0008770	Obsessive-compulsive trait	1/1	OMIM:617796
55870	ASH1L	HP:0008689	Bilateral cryptorchidism	1/1	OMIM:617796
55870	ASH1L	HP:0000028	Cryptorchidism	1/1	OMIM:617796
55870	ASH1L	HP:0001344	Absent speech	1/1	OMIM:617796
55870	ASH1L	HP:0000006	Autosomal dominant inheritance	-	OMIM:617796
55870	ASH1L	HP:0000194	Open mouth	1/1	OMIM:617796
55870	ASH1L	HP:0008936	Axial hypotonia	1/1	OMIM:617796
55870	ASH1L	HP:0002714	Downturned corners of mouth	1/1	OMIM:617796
55870	ASH1L	HP:0004626	Lumbar scoliosis	1/1	OMIM:617796
55870	ASH1L	HP:0004602	Cervical C2/C3 vertebral fusion	1/1	OMIM:617796
55870	ASH1L	HP:0002188	Delayed CNS myelination	1/1	OMIM:617796
55870	ASH1L	HP:0011856	Pica	1/1	OMIM:617796
55870	ASH1L	HP:0003593	Infantile onset	1/1	OMIM:617796
55870	ASH1L	HP:0003577	Congenital onset	1/1	OMIM:617796
55870	ASH1L	HP:0010722	Asymmetry of the ears	1/1	OMIM:617796
55870	ASH1L	HP:0011968	Feeding difficulties	1/2	OMIM:617796
55870	ASH1L	HP:0002360	Sleep abnormality	2/6	OMIM:617796
55870	ASH1L	HP:0003691	Scapular winging	1/5	OMIM:617796
55870	ASH1L	HP:0000664	Synophrys	1/1	OMIM:617796
55870	ASH1L	HP:0000666	Horizontal nystagmus	1/1	OMIM:617796
55870	ASH1L	HP:0000752	Hyperactivity	2/6	OMIM:617796
55870	ASH1L	HP:0000768	Pectus carinatum	1/1	OMIM:617796
55870	ASH1L	HP:0000737	Irritability	2/5	OMIM:617796
55870	ASH1L	HP:0000739	Anxiety	1/1	OMIM:617796
55870	ASH1L	HP:0000733	Motor stereotypy	1/1	OMIM:617796
55870	ASH1L	HP:0000750	Delayed speech and language development	2/2	OMIM:617796
55870	ASH1L	HP:0000729	Autistic behavior	4/6	OMIM:617796
55870	ASH1L	HP:0000821	Hypothyroidism	1/5	OMIM:617796
55870	ASH1L	HP:0008071	Maternal hypertension	1/1	OMIM:617796
55870	ASH1L	HP:0000294	Low anterior hairline	1/5	OMIM:617796
55870	ASH1L	HP:0000256	Macrocephaly	1/1	OMIM:617796
55870	ASH1L	HP:0000268	Dolichocephaly	1/5	OMIM:617796
55870	ASH1L	HP:0000252	Microcephaly	1/1	OMIM:617796
55870	ASH1L	HP:0000218	High palate	1/1	OMIM:617796
55870	ASH1L	HP:0025502	Overweight	1/5	OMIM:617796
55870	ASH1L	HP:0001518	Small for gestational age	1/1	OMIM:617796
55870	ASH1L	HP:0002938	Lumbar hyperlordosis	1/5	OMIM:617796
55870	ASH1L	HP:0000369	Low-set ears	1/1	OMIM:617796
55870	ASH1L	HP:0000319	Smooth philtrum	1/5	OMIM:617796
55870	ASH1L	HP:0000316	Hypertelorism	2/6	OMIM:617796
55870	ASH1L	HP:0000322	Short philtrum	2/2	OMIM:617796
55870	ASH1L	HP:0001623	Breech presentation	1/1	OMIM:617796
55870	ASH1L	HP:0006610	Wide intermamillary distance	1/1	OMIM:617796
55870	ASH1L	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:617796
55870	ASH1L	HP:0005280	Depressed nasal bridge	1/1	OMIM:617796
55870	ASH1L	HP:0000483	Astigmatism	1/5	OMIM:617796
55870	ASH1L	HP:0000486	Strabismus	1/1	OMIM:617796
55870	ASH1L	HP:0000490	Deeply set eye	1/1	OMIM:617796
55870	ASH1L	HP:0000463	Anteverted nares	1/1	OMIM:617796
55870	ASH1L	HP:0012450	Chronic constipation	1/1	OMIM:617796
55870	ASH1L	HP:0000448	Prominent nose	1/1	OMIM:617796
55870	ASH1L	HP:0000444	Convex nasal ridge	1/1	OMIM:617796
55870	ASH1L	HP:0000426	Prominent nasal bridge	1/1	OMIM:617796
55870	ASH1L	HP:0000540	Hypermetropia	1/5	OMIM:617796
55898	UNC45A	HP:0410204	Increased intestinal transit time	1/4	OMIM:619377
55898	UNC45A	HP:0001263	Global developmental delay	2/4	OMIM:619377
55898	UNC45A	HP:0002572	Episodic vomiting	1/4	OMIM:619377
55898	UNC45A	HP:0000093	Proteinuria	1/4	OMIM:619377
55898	UNC45A	HP:0001396	Cholestasis	4/4	OMIM:619377
55898	UNC45A	HP:0001395	Hepatic fibrosis	1/4	OMIM:619377
55898	UNC45A	HP:0001385	Hip dysplasia	1/4	OMIM:619377
55898	UNC45A	HP:0033736	Grade II vesicoureteral reflux	1/4	OMIM:619377
55898	UNC45A	HP:0000007	Autosomal recessive inheritance	-	OMIM:619377
55898	UNC45A	HP:0002757	Recurrent fractures	4/4	OMIM:619377
55898	UNC45A	HP:0001414	Microvesicular hepatic steatosis	1/4	OMIM:619377
55898	UNC45A	HP:0002027	Abdominal pain	1/4	OMIM:619377
55898	UNC45A	HP:0002003	Large forehead	1/4	OMIM:619377
55898	UNC45A	HP:0002099	Asthma	1/4	OMIM:619377
55898	UNC45A	HP:0033309	Ileoileal intussusception	1/4	OMIM:619377
55898	UNC45A	HP:0001944	Dehydration	2/4	OMIM:619377
55898	UNC45A	HP:0001903	Anemia	1/4	OMIM:619377
55898	UNC45A	HP:0004349	Reduced bone mineral density	2/4	OMIM:619377
55898	UNC45A	HP:0011473	Villous atrophy	2/4	OMIM:619377
55898	UNC45A	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1/4	OMIM:619377
55898	UNC45A	HP:0000989	Pruritus	2/4	OMIM:619377
55898	UNC45A	HP:0000238	Hydrocephalus	1/4	OMIM:619377
55898	UNC45A	HP:0012202	Increased serum bile acid concentration	2/4	OMIM:619377
55898	UNC45A	HP:0001508	Failure to thrive	2/4	OMIM:619377
55898	UNC45A	HP:0006580	Portal fibrosis	1/4	OMIM:619377
55898	UNC45A	HP:0006579	Prolonged neonatal jaundice	2/4	OMIM:619377
55898	UNC45A	HP:0005208	Secretory diarrhea	4/4	OMIM:619377
55898	UNC45A	HP:0002900	Hypokalemia	1/4	OMIM:619377
55898	UNC45A	HP:0000365	Hearing impairment	4/4	OMIM:619377
55898	UNC45A	HP:0001824	Weight loss	1/4	OMIM:619377
55898	UNC45A	HP:0000592	Blue sclerae	1/4	OMIM:619377
55898	UNC45A	HP:0012537	Food intolerance	1/4	OMIM:619377
55901	THSD1	HP:0009900	Unilateral deafness	1/1	OMIM:620244
55901	THSD1	HP:0001123	Visual field defect	HP:0040282	ORPHA:231160
55901	THSD1	HP:0001195	Single umbilical artery	1/1	OMIM:620244
55901	THSD1	HP:0001269	Hemiparesis	HP:0040282	ORPHA:231160
55901	THSD1	HP:0001250	Seizure	HP:0040282	ORPHA:231160
55901	THSD1	HP:0031056	Fusiform cerebral aneurysm	3/17	OMIM:618734
55901	THSD1	HP:0003811	Neonatal death	1/5	OMIM:620244
55901	THSD1	HP:0000034	Hydrocele testis	3/5	OMIM:620244
55901	THSD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620244
55901	THSD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618734
55901	THSD1	HP:0002647	Aortic dissection	HP:0040283	ORPHA:231160
55901	THSD1	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:231160
55901	THSD1	HP:0002621	Atherosclerosis	HP:0040282	ORPHA:231160
55901	THSD1	HP:0012159	Internal carotid artery dissection	1/17	OMIM:618734
55901	THSD1	HP:0500049	Retinopathy of prematurity	1/1	OMIM:620244
55901	THSD1	HP:0002092	Pulmonary arterial hypertension	1/1	OMIM:620244
55901	THSD1	HP:0002138	Subarachnoid hemorrhage	7/17	OMIM:618734
55901	THSD1	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:231160
55901	THSD1	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:231160
55901	THSD1	HP:0003596	Middle age onset	14/17	OMIM:618734
55901	THSD1	HP:0003584	Late onset	3/17	OMIM:618734
55901	THSD1	HP:0007029	Cerebral berry aneurysm	14/17	OMIM:618734
55901	THSD1	HP:0007029	Cerebral berry aneurysm	HP:0040280	ORPHA:231160
55901	THSD1	HP:0001048	Cavernous hemangioma	1/1	OMIM:620244
55901	THSD1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:231160
55901	THSD1	HP:0001028	Hemangioma	4/5	OMIM:620244
55901	THSD1	HP:0001004	Lymphedema	0/5	OMIM:620244
55901	THSD1	HP:0002326	Transient ischemic attack	HP:0040282	ORPHA:231160
55901	THSD1	HP:0030674	Antenatal onset	10/10	OMIM:620244
55901	THSD1	HP:0034198	Second trimester onset	4/4	OMIM:620244
55901	THSD1	HP:0000822	Hypertension	HP:0040282	ORPHA:231160
55901	THSD1	HP:0040197	Encephalomalacia	HP:0040283	ORPHA:231160
55901	THSD1	HP:0000280	Coarse facial features	1/1	OMIM:620244
55901	THSD1	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:231160
55901	THSD1	HP:0001541	Ascites	5/5	OMIM:620244
55901	THSD1	HP:0025671	Fetal pericardial effusion	0/5	OMIM:620244
55901	THSD1	HP:0025676	Fetal pleural effusion	4/5	OMIM:620244
55901	THSD1	HP:0006528	Chronic lung disease	1/1	OMIM:620244
55901	THSD1	HP:0000343	Long philtrum	2/5	OMIM:620244
55901	THSD1	HP:0000319	Smooth philtrum	2/5	OMIM:620244
55901	THSD1	HP:0000316	Hypertelorism	3/6	OMIM:620244
55901	THSD1	HP:0001643	Patent ductus arteriosus	2/5	OMIM:620244
55901	THSD1	HP:0001653	Mitral regurgitation	2/4	OMIM:620244
55901	THSD1	HP:0001655	Patent foramen ovale	2/4	OMIM:620244
55901	THSD1	HP:0001631	Atrial septal defect	3/5	OMIM:620244
55901	THSD1	HP:0005313	Arterial fibromuscular dysplasia	2/17	OMIM:618734
55901	THSD1	HP:0005280	Depressed nasal bridge	2/5	OMIM:620244
55901	THSD1	HP:0001790	Nonimmune hydrops fetalis	5/5	OMIM:620244
55901	THSD1	HP:0011220	Prominent forehead	2/5	OMIM:620244
55901	THSD1	HP:0012518	Abnormal circle of Willis morphology	HP:0040282	ORPHA:231160
55904	KMT2E	HP:0001182	Tapered finger	-	OMIM:618512
55904	KMT2E	HP:0001290	Generalized hypotonia	-	OMIM:618512
55904	KMT2E	HP:0001273	Abnormal corpus callosum morphology	-	OMIM:618512
55904	KMT2E	HP:0001250	Seizure	HP:0040284	OMIM:618512
55904	KMT2E	HP:0001263	Global developmental delay	-	OMIM:618512
55904	KMT2E	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:618512
55904	KMT2E	HP:0000028	Cryptorchidism	-	OMIM:618512
55904	KMT2E	HP:0000006	Autosomal dominant inheritance	-	OMIM:618512
55904	KMT2E	HP:0012166	Skin-picking	-	OMIM:618512
55904	KMT2E	HP:0002013	Vomiting	-	OMIM:618512
55904	KMT2E	HP:0003593	Infantile onset	-	OMIM:618512
55904	KMT2E	HP:0100716	Self-injurious behavior	-	OMIM:618512
55904	KMT2E	HP:0200134	Epileptic encephalopathy	HP:0040284	OMIM:618512
55904	KMT2E	HP:0011968	Feeding difficulties	-	OMIM:618512
55904	KMT2E	HP:0000629	Periorbital fullness	-	OMIM:618512
55904	KMT2E	HP:0001999	Abnormal facial shape	-	OMIM:618512
55904	KMT2E	HP:0031936	Delayed ability to walk	-	OMIM:618512
55904	KMT2E	HP:0000739	Anxiety	-	OMIM:618512
55904	KMT2E	HP:0000750	Delayed speech and language development	-	OMIM:618512
55904	KMT2E	HP:0000718	Aggressive behavior	-	OMIM:618512
55904	KMT2E	HP:0000293	Full cheeks	-	OMIM:618512
55904	KMT2E	HP:0000256	Macrocephaly	-	OMIM:618512
55904	KMT2E	HP:0000268	Dolichocephaly	-	OMIM:618512
55904	KMT2E	HP:0002808	Kyphosis	-	OMIM:618512
55904	KMT2E	HP:0006579	Prolonged neonatal jaundice	-	OMIM:618512
55904	KMT2E	HP:0000494	Downslanted palpebral fissures	-	OMIM:618512
55904	KMT2E	HP:0000490	Deeply set eye	-	OMIM:618512
55904	KMT2E	HP:0012448	Delayed myelination	-	OMIM:618512
55904	KMT2E	HP:0011220	Prominent forehead	-	OMIM:618512
55906	ZC4H2	HP:0002460	Distal muscle weakness	-	OMIM:301041
55906	ZC4H2	HP:0009890	High anterior hairline	-	OMIM:314580
55906	ZC4H2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
55906	ZC4H2	HP:0001293	Cranial nerve compression	-	OMIM:131300
55906	ZC4H2	HP:0001290	Generalized hypotonia	-	OMIM:301041
55906	ZC4H2	HP:0001290	Generalized hypotonia	-	OMIM:314580
55906	ZC4H2	HP:0001284	Areflexia	-	OMIM:314580
55906	ZC4H2	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:3454
55906	ZC4H2	HP:0001256	Intellectual disability, mild	-	OMIM:314580
55906	ZC4H2	HP:0001250	Seizure	-	OMIM:314580
55906	ZC4H2	HP:0001252	Hypotonia	-	OMIM:314580
55906	ZC4H2	HP:0001252	Hypotonia	2/7	OMIM:615777
55906	ZC4H2	HP:0001249	Intellectual disability	5/7	OMIM:615777
55906	ZC4H2	HP:0001260	Dysarthria	-	OMIM:301041
55906	ZC4H2	HP:0001263	Global developmental delay	-	OMIM:314580
55906	ZC4H2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3454
55906	ZC4H2	HP:0001263	Global developmental delay	-	OMIM:301041
55906	ZC4H2	HP:0001263	Global developmental delay	-	OMIM:615777
55906	ZC4H2	HP:0001257	Spasticity	-	OMIM:301041
55906	ZC4H2	HP:0001257	Spasticity	-	OMIM:314580
55906	ZC4H2	HP:0002540	Inability to walk	-	OMIM:301041
55906	ZC4H2	HP:0002515	Waddling gait	54/102	OMIM:131300
55906	ZC4H2	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:3454
55906	ZC4H2	HP:0001371	Flexion contracture	-	OMIM:301041
55906	ZC4H2	HP:0001382	Joint hypermobility	-	OMIM:615777
55906	ZC4H2	HP:0000020	Urinary incontinence	-	OMIM:301041
55906	ZC4H2	HP:0001347	Hyperreflexia	-	OMIM:301041
55906	ZC4H2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
55906	ZC4H2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
55906	ZC4H2	HP:0001332	Dystonia	-	OMIM:314580
55906	ZC4H2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
55906	ZC4H2	HP:0001324	Muscle weakness	40/96	OMIM:131300
55906	ZC4H2	HP:0001324	Muscle weakness	-	OMIM:314580
55906	ZC4H2	HP:0001344	Absent speech	-	OMIM:301041
55906	ZC4H2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
55906	ZC4H2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
55906	ZC4H2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
55906	ZC4H2	HP:0002650	Scoliosis	HP:0040283	ORPHA:3454
55906	ZC4H2	HP:0002650	Scoliosis	-	OMIM:301041
55906	ZC4H2	HP:0002650	Scoliosis	-	OMIM:314580
55906	ZC4H2	HP:0002650	Scoliosis	12/14	OMIM:131300
55906	ZC4H2	HP:0002643	Neonatal respiratory distress	-	OMIM:314580
55906	ZC4H2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
55906	ZC4H2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
55906	ZC4H2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
55906	ZC4H2	HP:0000187	Broad alveolar ridges	-	OMIM:314580
55906	ZC4H2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
55906	ZC4H2	HP:0000175	Cleft palate	-	OMIM:301041
55906	ZC4H2	HP:0000175	Cleft palate	2/7	OMIM:615777
55906	ZC4H2	HP:0001423	X-linked dominant inheritance	-	OMIM:301041
55906	ZC4H2	HP:0001419	X-linked recessive inheritance	20/20	OMIM:314580
55906	ZC4H2	HP:0002714	Downturned corners of mouth	-	OMIM:301041
55906	ZC4H2	HP:0002015	Dysphagia	-	OMIM:301041
55906	ZC4H2	HP:0003307	Hyperlordosis	-	OMIM:314580
55906	ZC4H2	HP:0002059	Cerebral atrophy	-	OMIM:314580
55906	ZC4H2	HP:0003388	Easy fatigability	36/76	OMIM:131300
55906	ZC4H2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
55906	ZC4H2	HP:0009486	Radial deviation of the hand	-	OMIM:301041
55906	ZC4H2	HP:0002119	Ventriculomegaly	-	OMIM:301041
55906	ZC4H2	HP:0002104	Apnea	-	OMIM:314580
55906	ZC4H2	HP:0009623	Proximal placement of thumb	-	OMIM:314580
55906	ZC4H2	HP:0002188	Delayed CNS myelination	-	OMIM:301041
55906	ZC4H2	HP:0002186	Apraxia	-	OMIM:314580
55906	ZC4H2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:3454
55906	ZC4H2	HP:0003577	Congenital onset	-	OMIM:314580
55906	ZC4H2	HP:0011968	Feeding difficulties	-	OMIM:301041
55906	ZC4H2	HP:0011968	Feeding difficulties	-	OMIM:314580
55906	ZC4H2	HP:0010628	Facial palsy	-	OMIM:301041
55906	ZC4H2	HP:0010628	Facial palsy	-	OMIM:314580
55906	ZC4H2	HP:0003510	Severe short stature	7/7	OMIM:615777
55906	ZC4H2	HP:0003693	Distal amyotrophy	-	OMIM:314580
55906	ZC4H2	HP:0003693	Distal amyotrophy	HP:0040281	ORPHA:3454
55906	ZC4H2	HP:0002315	Headache	-	OMIM:131300
55906	ZC4H2	HP:0004976	Knee dislocation	6/7	OMIM:615777
55906	ZC4H2	HP:0010806	U-Shaped upper lip vermilion	-	OMIM:301041
55906	ZC4H2	HP:0010806	U-Shaped upper lip vermilion	-	OMIM:314580
55906	ZC4H2	HP:0009803	Short phalanx of finger	-	OMIM:615777
55906	ZC4H2	HP:0010765	Palmar hyperkeratosis	-	OMIM:314580
55906	ZC4H2	HP:0009763	Limb pain	63/92	OMIM:131300
55906	ZC4H2	HP:0002307	Drooling	-	OMIM:301041
55906	ZC4H2	HP:0002307	Drooling	-	OMIM:314580
55906	ZC4H2	HP:0003621	Juvenile onset	-	OMIM:131300
55906	ZC4H2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
55906	ZC4H2	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:3454
55906	ZC4H2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
55906	ZC4H2	HP:6001056	Out-toeing	-	OMIM:131300
55906	ZC4H2	HP:0000651	Diplopia	-	OMIM:131300
55906	ZC4H2	HP:0001956	Truncal obesity	2/7	OMIM:615777
55906	ZC4H2	HP:0001903	Anemia	HP:0040283	OMIM:131300
55906	ZC4H2	HP:0010049	Short metacarpal	-	OMIM:615777
55906	ZC4H2	HP:0000678	Dental crowding	-	OMIM:615777
55906	ZC4H2	HP:0000657	Oculomotor apraxia	-	OMIM:301041
55906	ZC4H2	HP:0000657	Oculomotor apraxia	HP:0040283	OMIM:314580
55906	ZC4H2	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:3454
55906	ZC4H2	HP:0001989	Fetal akinesia sequence	-	OMIM:301041
55906	ZC4H2	HP:0000670	Carious teeth	-	OMIM:131300
55906	ZC4H2	HP:0011304	Broad thumb	2/7	OMIM:615777
55906	ZC4H2	HP:0000668	Hypodontia	-	OMIM:615777
55906	ZC4H2	HP:0000664	Synophrys	-	OMIM:615777
55906	ZC4H2	HP:0004322	Short stature	-	OMIM:314580
55906	ZC4H2	HP:0004322	Short stature	-	OMIM:301041
55906	ZC4H2	HP:0004396	Poor appetite	-	OMIM:131300
55906	ZC4H2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
55906	ZC4H2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
55906	ZC4H2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
55906	ZC4H2	HP:0003026	Short long bone	7/7	OMIM:615777
55906	ZC4H2	HP:0031936	Delayed ability to walk	-	OMIM:301041
55906	ZC4H2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
55906	ZC4H2	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:3454
55906	ZC4H2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
55906	ZC4H2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
55906	ZC4H2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
55906	ZC4H2	HP:0000750	Delayed speech and language development	-	OMIM:314580
55906	ZC4H2	HP:0000750	Delayed speech and language development	-	OMIM:615777
55906	ZC4H2	HP:0011461	Fetal onset	7/7	OMIM:615777
55906	ZC4H2	HP:0000774	Narrow chest	-	OMIM:301041
55906	ZC4H2	HP:0000774	Narrow chest	-	OMIM:314580
55906	ZC4H2	HP:0000774	Narrow chest	2/7	OMIM:615777
55906	ZC4H2	HP:0005745	Congenital foot contractures	HP:0040281	ORPHA:3454
55906	ZC4H2	HP:0005745	Congenital foot contractures	-	OMIM:314580
55906	ZC4H2	HP:0000926	Platyspondyly	1/7	OMIM:615777
55906	ZC4H2	HP:0003180	Flat acetabular roof	-	OMIM:615777
55906	ZC4H2	HP:0004482	Relative macrocephaly	-	OMIM:615777
55906	ZC4H2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
55906	ZC4H2	HP:0000823	Delayed puberty	-	OMIM:131300
55906	ZC4H2	HP:0000894	Short clavicles	-	OMIM:615777
55906	ZC4H2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
55906	ZC4H2	HP:0003273	Hip contracture	-	OMIM:301041
55906	ZC4H2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
55906	ZC4H2	HP:0000286	Epicanthus	1/7	OMIM:615777
55906	ZC4H2	HP:0000280	Coarse facial features	2/7	OMIM:615777
55906	ZC4H2	HP:0000278	Retrognathia	-	OMIM:314580
55906	ZC4H2	HP:0006467	Limited shoulder movement	-	OMIM:301041
55906	ZC4H2	HP:0002827	Hip dislocation	-	OMIM:301041
55906	ZC4H2	HP:0002827	Hip dislocation	-	OMIM:314580
55906	ZC4H2	HP:0002827	Hip dislocation	3/7	OMIM:615777
55906	ZC4H2	HP:0002808	Kyphosis	HP:0040283	ORPHA:3454
55906	ZC4H2	HP:0002808	Kyphosis	-	OMIM:301041
55906	ZC4H2	HP:0002808	Kyphosis	-	OMIM:314580
55906	ZC4H2	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:314580
55906	ZC4H2	HP:0000252	Microcephaly	-	OMIM:314580
55906	ZC4H2	HP:0000252	Microcephaly	-	OMIM:301041
55906	ZC4H2	HP:0000252	Microcephaly	-	OMIM:615777
55906	ZC4H2	HP:0000248	Brachycephaly	-	OMIM:301041
55906	ZC4H2	HP:0000218	High palate	-	OMIM:314580
55906	ZC4H2	HP:0001561	Polyhydramnios	-	OMIM:301041
55906	ZC4H2	HP:0001558	Decreased fetal movement	-	OMIM:314580
55906	ZC4H2	HP:0002857	Genu valgum	-	OMIM:131300
55906	ZC4H2	HP:0001533	Slender build	-	OMIM:131300
55906	ZC4H2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
55906	ZC4H2	HP:0007807	Optic nerve compression	-	OMIM:131300
55906	ZC4H2	HP:0012385	Camptodactyly	-	OMIM:314580
55906	ZC4H2	HP:0012368	Flat face	7/7	OMIM:615777
55906	ZC4H2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
55906	ZC4H2	HP:0000365	Hearing impairment	10/67	OMIM:131300
55906	ZC4H2	HP:0000358	Posteriorly rotated ears	20/20	OMIM:301041
55906	ZC4H2	HP:0000369	Low-set ears	-	OMIM:301041
55906	ZC4H2	HP:0000369	Low-set ears	-	OMIM:314580
55906	ZC4H2	HP:0000343	Long philtrum	-	OMIM:301041
55906	ZC4H2	HP:0000343	Long philtrum	-	OMIM:314580
55906	ZC4H2	HP:0000343	Long philtrum	1/7	OMIM:615777
55906	ZC4H2	HP:0011001	Increased bone mineral density	-	OMIM:131300
55906	ZC4H2	HP:0000348	High forehead	-	OMIM:301041
55906	ZC4H2	HP:0000347	Micrognathia	-	OMIM:314580
55906	ZC4H2	HP:0000319	Smooth philtrum	-	OMIM:314580
55906	ZC4H2	HP:0000311	Round face	2/7	OMIM:615777
55906	ZC4H2	HP:0002970	Genu varum	-	OMIM:615777
55906	ZC4H2	HP:0000308	Microretrognathia	-	OMIM:301041
55906	ZC4H2	HP:0000303	Mandibular prognathia	-	OMIM:131300
55906	ZC4H2	HP:0006610	Wide intermamillary distance	-	OMIM:301041
55906	ZC4H2	HP:0030319	Weakness of facial musculature	-	OMIM:301041
55906	ZC4H2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
55906	ZC4H2	HP:0000486	Strabismus	HP:0040283	ORPHA:3454
55906	ZC4H2	HP:0000496	Abnormality of eye movement	HP:0040281	ORPHA:3454
55906	ZC4H2	HP:0000490	Deeply set eye	-	OMIM:301041
55906	ZC4H2	HP:0000463	Anteverted nares	-	OMIM:301041
55906	ZC4H2	HP:0000463	Anteverted nares	-	OMIM:314580
55906	ZC4H2	HP:0012448	Delayed myelination	-	OMIM:314580
55906	ZC4H2	HP:0012444	Brain atrophy	-	OMIM:301041
55906	ZC4H2	HP:0000470	Short neck	-	OMIM:301041
55906	ZC4H2	HP:0000470	Short neck	-	OMIM:314580
55906	ZC4H2	HP:0000470	Short neck	1/7	OMIM:615777
55906	ZC4H2	HP:0001771	Achilles tendon contracture	-	OMIM:301041
55906	ZC4H2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
55906	ZC4H2	HP:0001763	Pes planus	1/7	OMIM:615777
55906	ZC4H2	HP:0001762	Talipes equinovarus	-	OMIM:301041
55906	ZC4H2	HP:0001762	Talipes equinovarus	-	OMIM:314580
55906	ZC4H2	HP:0001840	Metatarsus adductus	-	OMIM:615777
55906	ZC4H2	HP:0000520	Proptosis	2/4	OMIM:131300
55906	ZC4H2	HP:0000520	Proptosis	7/7	OMIM:615777
55906	ZC4H2	HP:0001838	Rocker bottom foot	-	OMIM:301041
55906	ZC4H2	HP:0000508	Ptosis	HP:0040283	ORPHA:3454
55906	ZC4H2	HP:0000508	Ptosis	-	OMIM:301041
55906	ZC4H2	HP:0000508	Ptosis	-	OMIM:314580
55906	ZC4H2	HP:0000582	Upslanted palpebral fissure	-	OMIM:314580
55906	ZC4H2	HP:0000577	Exotropia	-	OMIM:314580
55906	ZC4H2	HP:0000592	Blue sclerae	2/7	OMIM:615777
55906	ZC4H2	HP:0000540	Hypermetropia	-	OMIM:301041
55906	ZC4H2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
55906	ZC4H2	HP:0012514	Lower limb pain	4/4	OMIM:131300
55958	KLHL9	HP:0001288	Gait disturbance	HP:0040282	ORPHA:399081
55958	KLHL9	HP:0002505	Loss of ambulation	HP:0040284	ORPHA:399081
55958	KLHL9	HP:0008954	Intrinsic hand muscle atrophy	HP:0040282	ORPHA:399081
55958	KLHL9	HP:0001430	Abnormal calf musculature morphology	HP:0040282	ORPHA:399081
55958	KLHL9	HP:0003376	Steppage gait	HP:0040282	ORPHA:399081
55958	KLHL9	HP:0003477	Peripheral axonal neuropathy	HP:0040284	ORPHA:399081
55958	KLHL9	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:399081
55958	KLHL9	HP:0003438	Absent Achilles reflex	HP:0040283	ORPHA:399081
55958	KLHL9	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:399081
55958	KLHL9	HP:0006844	Absent patellar reflexes	HP:0040282	ORPHA:399081
55958	KLHL9	HP:0009063	Progressive distal muscle weakness	HP:0040281	ORPHA:399081
55958	KLHL9	HP:0009031	Amyotrophy of ankle musculature	HP:0040282	ORPHA:399081
55958	KLHL9	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040281	ORPHA:399081
55958	KLHL9	HP:0006937	Impaired distal tactile sensation	HP:0040282	ORPHA:399081
55958	KLHL9	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040282	ORPHA:399081
55958	KLHL9	HP:0006466	Ankle flexion contracture	HP:0040281	ORPHA:399081
55958	KLHL9	HP:0002936	Distal sensory impairment	HP:0040281	ORPHA:399081
55967	NDUFA12	HP:0002490	Increased CSF lactate	1/1	OMIM:618244
55967	NDUFA12	HP:0001290	Generalized hypotonia	-	OMIM:618244
55967	NDUFA12	HP:0001270	Motor delay	1/1	OMIM:618244
55967	NDUFA12	HP:0001252	Hypotonia	1/1	OMIM:618244
55967	NDUFA12	HP:0001332	Dystonia	1/1	OMIM:618244
55967	NDUFA12	HP:0000007	Autosomal recessive inheritance	-	OMIM:618244
55967	NDUFA12	HP:0002650	Scoliosis	1/1	OMIM:618244
55967	NDUFA12	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:618244
55967	NDUFA12	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:618244
55967	NDUFA12	HP:0003593	Infantile onset	1/1	OMIM:618244
55967	NDUFA12	HP:0003676	Progressive	-	OMIM:618244
55967	NDUFA12	HP:0031936	Delayed ability to walk	1/1	OMIM:618244
55967	NDUFA12	HP:0003202	Skeletal muscle atrophy	1/1	OMIM:618244
55967	NDUFA12	HP:0000998	Hypertrichosis	1/1	OMIM:618244
55967	NDUFA12	HP:0001510	Growth delay	1/1	OMIM:618244
55969	RAB5IF	HP:0010864	Intellectual disability, severe	1/1	OMIM:616994
55969	RAB5IF	HP:0001344	Absent speech	1/1	OMIM:616994
55969	RAB5IF	HP:0000007	Autosomal recessive inheritance	-	OMIM:616994
55969	RAB5IF	HP:0002389	Cavum septum pellucidum	1/1	OMIM:616994
55969	RAB5IF	HP:0000767	Pectus excavatum	1/1	OMIM:616994
55969	RAB5IF	HP:0000914	Shield chest	1/1	OMIM:616994
55969	RAB5IF	HP:0100336	Bilateral cleft lip	1/1	OMIM:616994
55969	RAB5IF	HP:0012368	Flat face	1/1	OMIM:616994
55969	RAB5IF	HP:0002943	Thoracic scoliosis	1/1	OMIM:616994
55969	RAB5IF	HP:0000369	Low-set ears	1/1	OMIM:616994
55969	RAB5IF	HP:0000470	Short neck	1/1	OMIM:616994
55975	KLHL7	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
55975	KLHL7	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
55975	KLHL7	HP:0001249	Intellectual disability	1/3	OMIM:617055
55975	KLHL7	HP:0025278	Cold-induced sweating	1/5	OMIM:617055
55975	KLHL7	HP:0000007	Autosomal recessive inheritance	-	OMIM:617055
55975	KLHL7	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
55975	KLHL7	HP:0000006	Autosomal dominant inheritance	-	OMIM:612943
55975	KLHL7	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
55975	KLHL7	HP:0002650	Scoliosis	0/4	OMIM:617055
55975	KLHL7	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
55975	KLHL7	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
55975	KLHL7	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
55975	KLHL7	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
55975	KLHL7	HP:0007663	Reduced visual acuity	5/5	OMIM:612943
55975	KLHL7	HP:0500087	Peripapillary atrophy	3/3	OMIM:612943
55975	KLHL7	HP:0002015	Dysphagia	5/5	OMIM:617055
55975	KLHL7	HP:0002098	Respiratory distress	-	OMIM:617055
55975	KLHL7	HP:0003596	Middle age onset	1/5	OMIM:612943
55975	KLHL7	HP:0003593	Infantile onset	5/5	OMIM:617055
55975	KLHL7	HP:0011968	Feeding difficulties	5/5	OMIM:617055
55975	KLHL7	HP:0003621	Juvenile onset	8/19	OMIM:180100
55975	KLHL7	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
55975	KLHL7	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
55975	KLHL7	HP:0000618	Blindness	HP:0040281	ORPHA:791
55975	KLHL7	HP:0000613	Photophobia	HP:0040281	ORPHA:791
55975	KLHL7	HP:0001945	Fever	4/4	OMIM:617055
55975	KLHL7	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
55975	KLHL7	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
55975	KLHL7	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
55975	KLHL7	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
55975	KLHL7	HP:0000662	Nyctalopia	26/28	OMIM:180100
55975	KLHL7	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
55975	KLHL7	HP:0030629	Perifoveal ring of hyperautofluorescence	3/3	OMIM:612943
55975	KLHL7	HP:0011463	Childhood onset	3/19	OMIM:180100
55975	KLHL7	HP:0011462	Young adult onset	8/19	OMIM:180100
55975	KLHL7	HP:0011462	Young adult onset	4/5	OMIM:612943
55975	KLHL7	HP:0030786	Photopsia	HP:0040283	ORPHA:791
55975	KLHL7	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
55975	KLHL7	HP:0011505	Cystoid macular edema	4/5	OMIM:612943
55975	KLHL7	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
55975	KLHL7	HP:0034392	Joint contracture	3/4	OMIM:617055
55975	KLHL7	HP:0000961	Cyanosis	1/5	OMIM:617055
55975	KLHL7	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
55975	KLHL7	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
55975	KLHL7	HP:0000293	Full cheeks	4/5	OMIM:617055
55975	KLHL7	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
55975	KLHL7	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
55975	KLHL7	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
55975	KLHL7	HP:0000218	High palate	4/4	OMIM:617055
55975	KLHL7	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
55975	KLHL7	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
55975	KLHL7	HP:0012385	Camptodactyly	5/5	OMIM:617055
55975	KLHL7	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
55975	KLHL7	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
55975	KLHL7	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
55975	KLHL7	HP:0005280	Depressed nasal bridge	5/5	OMIM:617055
55975	KLHL7	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
55975	KLHL7	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
55975	KLHL7	HP:0000510	Rod-cone dystrophy	5/5	OMIM:612943
55975	KLHL7	HP:0000510	Rod-cone dystrophy	2/3	OMIM:617055
55975	KLHL7	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
55975	KLHL7	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
55975	KLHL7	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
55975	KLHL7	HP:0000575	Scotoma	5/18	OMIM:180100
55975	KLHL7	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
55975	KLHL7	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
55975	KLHL7	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
55975	KLHL7	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
55975	KLHL7	HP:0000543	Optic disc pallor	1/1	OMIM:180100
55975	KLHL7	HP:0000545	Myopia	-	OMIM:180100
55997	CFC1	HP:0001274	Agenesis of corpus callosum	1/3	OMIM:605376
55997	CFC1	HP:0002566	Intestinal malrotation	2/3	OMIM:605376
55997	CFC1	HP:0003829	Typified by incomplete penetrance	-	OMIM:605376
55997	CFC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
55997	CFC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:605376
55997	CFC1	HP:0003363	Abdominal situs inversus	-	OMIM:605376
55997	CFC1	HP:0003577	Congenital onset	3/3	OMIM:605376
55997	CFC1	HP:0033379	Bilateral superior vena cava	1/3	OMIM:605376
55997	CFC1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
55997	CFC1	HP:0004467	Preauricular pit	-	OMIM:187500
55997	CFC1	HP:0011537	Left atrial isomerism	-	OMIM:605376
55997	CFC1	HP:0011599	Mesocardia	-	OMIM:605376
55997	CFC1	HP:0000252	Microcephaly	1/3	OMIM:605376
55997	CFC1	HP:0001696	Situs inversus totalis	-	OMIM:605376
55997	CFC1	HP:0001669	Transposition of the great arteries	2/3	OMIM:605376
55997	CFC1	HP:0000337	Broad forehead	-	OMIM:187500
55997	CFC1	HP:0001651	Dextrocardia	2/3	OMIM:605376
55997	CFC1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
55997	CFC1	HP:0006695	Atrioventricular canal defect	-	OMIM:605376
55997	CFC1	HP:0001719	Double outlet right ventricle	-	OMIM:605376
55997	CFC1	HP:0001746	Asplenia	1/3	OMIM:605376
55997	CFC1	HP:0001748	Polysplenia	1/3	OMIM:605376
55997	CFC1	HP:0000520	Proptosis	-	OMIM:187500
56006	SMG9	HP:0001188	Hand clenching	11/12	OMIM:616920
56006	SMG9	HP:0001156	Brachydactyly	2/5	OMIM:619995
56006	SMG9	HP:0009907	Attached earlobe	1/3	OMIM:616920
56006	SMG9	HP:0001250	Seizure	1/3	OMIM:616920
56006	SMG9	HP:0001252	Hypotonia	2/5	OMIM:619995
56006	SMG9	HP:0001249	Intellectual disability	5/5	OMIM:619995
56006	SMG9	HP:0001263	Global developmental delay	-	OMIM:616920
56006	SMG9	HP:0002509	Limb hypertonia	1/3	OMIM:616920
56006	SMG9	HP:0001348	Brisk reflexes	5/5	OMIM:619995
56006	SMG9	HP:0000007	Autosomal recessive inheritance	-	OMIM:616920
56006	SMG9	HP:0000007	Autosomal recessive inheritance	-	OMIM:619995
56006	SMG9	HP:0001305	Dandy-Walker malformation	2/3	OMIM:616920
56006	SMG9	HP:0001320	Cerebellar vermis hypoplasia	1/3	OMIM:616920
56006	SMG9	HP:0002650	Scoliosis	1/5	OMIM:619995
56006	SMG9	HP:0000179	Thick lower lip vermilion	1/2	OMIM:616920
56006	SMG9	HP:0410030	Cleft lip	1/2	OMIM:616920
56006	SMG9	HP:0008936	Axial hypotonia	11/13	OMIM:616920
56006	SMG9	HP:0002705	High, narrow palate	1/2	OMIM:616920
56006	SMG9	HP:0002020	Gastroesophageal reflux	-	OMIM:616920
56006	SMG9	HP:0002080	Intention tremor	5/5	OMIM:619995
56006	SMG9	HP:0002079	Hypoplasia of the corpus callosum	1/3	OMIM:616920
56006	SMG9	HP:0002059	Cerebral atrophy	-	OMIM:616920
56006	SMG9	HP:0002188	Delayed CNS myelination	-	OMIM:616920
56006	SMG9	HP:0100490	Camptodactyly of finger	1/2	OMIM:616920
56006	SMG9	HP:0003593	Infantile onset	4/5	OMIM:619995
56006	SMG9	HP:0003577	Congenital onset	3/3	OMIM:616920
56006	SMG9	HP:0003577	Congenital onset	1/5	OMIM:619995
56006	SMG9	HP:0002283	Global brain atrophy	-	OMIM:616920
56006	SMG9	HP:0002359	Frequent falls	5/5	OMIM:619995
56006	SMG9	HP:0010763	Low insertion of columella	3/5	OMIM:619995
56006	SMG9	HP:0006801	Hyperactive deep tendon reflexes	-	OMIM:616920
56006	SMG9	HP:0006895	Lower limb hypertonia	5/5	OMIM:619995
56006	SMG9	HP:0004322	Short stature	1/5	OMIM:619995
56006	SMG9	HP:0006956	Lateral ventricle dilatation	1/5	OMIM:619995
56006	SMG9	HP:0000750	Delayed speech and language development	5/5	OMIM:619995
56006	SMG9	HP:0011448	Ankle clonus	5/5	OMIM:619995
56006	SMG9	HP:0003189	Long nose	2/5	OMIM:619995
56006	SMG9	HP:0011611	Interrupted aortic arch	1/3	OMIM:616920
56006	SMG9	HP:0000960	Sacral dimple	1/5	OMIM:619995
56006	SMG9	HP:0008081	Pes valgus	3/5	OMIM:619995
56006	SMG9	HP:0000260	Wide anterior fontanel	1/2	OMIM:616920
56006	SMG9	HP:0000269	Prominent occiput	-	OMIM:616920
56006	SMG9	HP:0000252	Microcephaly	1/2	OMIM:616920
56006	SMG9	HP:0000248	Brachycephaly	1/5	OMIM:619995
56006	SMG9	HP:0000218	High palate	3/5	OMIM:619995
56006	SMG9	HP:0001561	Polyhydramnios	-	OMIM:616920
56006	SMG9	HP:0000232	Everted lower lip vermilion	1/2	OMIM:616920
56006	SMG9	HP:0031348	Dextrotransposition of the great arteries	1/5	OMIM:619995
56006	SMG9	HP:0001510	Growth delay	2/3	OMIM:616920
56006	SMG9	HP:0000358	Posteriorly rotated ears	1/3	OMIM:616920
56006	SMG9	HP:0000369	Low-set ears	1/2	OMIM:616920
56006	SMG9	HP:0000341	Narrow forehead	1/2	OMIM:616920
56006	SMG9	HP:0000316	Hypertelorism	1/2	OMIM:616920
56006	SMG9	HP:0001629	Ventricular septal defect	1/5	OMIM:619995
56006	SMG9	HP:0001629	Ventricular septal defect	3/3	OMIM:616920
56006	SMG9	HP:0000403	Recurrent otitis media	3/5	OMIM:619995
56006	SMG9	HP:0005280	Depressed nasal bridge	5/5	OMIM:619995
56006	SMG9	HP:0005280	Depressed nasal bridge	1/2	OMIM:616920
56006	SMG9	HP:0000486	Strabismus	4/5	OMIM:619995
56006	SMG9	HP:0000463	Anteverted nares	1/2	OMIM:616920
56006	SMG9	HP:0012444	Brain atrophy	1/3	OMIM:616920
56006	SMG9	HP:0000455	Broad nasal tip	1/5	OMIM:619995
56006	SMG9	HP:0000445	Wide nose	1/5	OMIM:619995
56006	SMG9	HP:0000431	Wide nasal bridge	1/5	OMIM:619995
56006	SMG9	HP:0000431	Wide nasal bridge	1/2	OMIM:616920
56006	SMG9	HP:0005487	Prominent metopic ridge	-	OMIM:616920
56006	SMG9	HP:0000505	Visual impairment	1/2	OMIM:616920
56006	SMG9	HP:0011220	Prominent forehead	1/5	OMIM:619995
56006	SMG9	HP:0011220	Prominent forehead	1/2	OMIM:616920
56006	SMG9	HP:0000568	Microphthalmia	-	OMIM:616920
56052	ALG1	HP:0001290	Generalized hypotonia	-	OMIM:608540
56052	ALG1	HP:0100806	Sepsis	HP:0040283	ORPHA:79327
56052	ALG1	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:79327
56052	ALG1	HP:0001284	Areflexia	1/1	OMIM:608540
56052	ALG1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:79327
56052	ALG1	HP:0001250	Seizure	-	OMIM:608540
56052	ALG1	HP:0001250	Seizure	HP:0040281	ORPHA:79327
56052	ALG1	HP:0001252	Hypotonia	-	OMIM:608540
56052	ALG1	HP:0001252	Hypotonia	HP:0040281	ORPHA:79327
56052	ALG1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:79327
56052	ALG1	HP:0001263	Global developmental delay	-	OMIM:608540
56052	ALG1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:79327
56052	ALG1	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:79327
56052	ALG1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:79327
56052	ALG1	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:79327
56052	ALG1	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:79327
56052	ALG1	HP:0001371	Flexion contracture	-	OMIM:608540
56052	ALG1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608540
56052	ALG1	HP:0002650	Scoliosis	HP:0040282	ORPHA:79327
56052	ALG1	HP:0000135	Hypogonadism	1/1	OMIM:608540
56052	ALG1	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:79327
56052	ALG1	HP:0001410	Decreased liver function	HP:0040283	ORPHA:79327
56052	ALG1	HP:0002719	Recurrent infections	HP:0040283	ORPHA:79327
56052	ALG1	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:79327
56052	ALG1	HP:0002028	Chronic diarrhea	HP:0040282	ORPHA:79327
56052	ALG1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:79327
56052	ALG1	HP:0002059	Cerebral atrophy	-	OMIM:608540
56052	ALG1	HP:0002243	Protein-losing enteropathy	HP:0040283	ORPHA:79327
56052	ALG1	HP:0002240	Hepatomegaly	1/1	OMIM:608540
56052	ALG1	HP:0010841	Multifocal epileptiform discharges	1/1	OMIM:608540
56052	ALG1	HP:0003642	Type I transferrin isoform profile	1/1	OMIM:608540
56052	ALG1	HP:0000639	Nystagmus	HP:0040283	ORPHA:79327
56052	ALG1	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:79327
56052	ALG1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:79327
56052	ALG1	HP:0003073	Hypoalbuminemia	HP:0040282	ORPHA:79327
56052	ALG1	HP:0034197	Third trimester onset	1/1	OMIM:608540
56052	ALG1	HP:0000924	Abnormality of the skeletal system	HP:0040282	ORPHA:79327
56052	ALG1	HP:0034392	Joint contracture	1/1	OMIM:608540
56052	ALG1	HP:0002808	Kyphosis	HP:0040283	ORPHA:79327
56052	ALG1	HP:0000239	Large fontanelles	1/1	OMIM:608540
56052	ALG1	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:79327
56052	ALG1	HP:0000252	Microcephaly	-	OMIM:608540
56052	ALG1	HP:0002878	Respiratory failure	HP:0040283	ORPHA:79327
56052	ALG1	HP:0000233	Thin vermilion border	-	OMIM:608540
56052	ALG1	HP:0001560	Abnormality of the amniotic fluid	-	OMIM:608540
56052	ALG1	HP:0001522	Death in infancy	1/1	OMIM:608540
56052	ALG1	HP:0001511	Intrauterine growth retardation	-	OMIM:608540
56052	ALG1	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040282	ORPHA:79327
56052	ALG1	HP:0000347	Micrognathia	1/1	OMIM:608540
56052	ALG1	HP:0000316	Hypertelorism	1/1	OMIM:608540
56052	ALG1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:79327
56052	ALG1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:79327
56052	ALG1	HP:0001638	Cardiomyopathy	1/1	OMIM:608540
56052	ALG1	HP:0000486	Strabismus	HP:0040282	ORPHA:79327
56052	ALG1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:79327
56052	ALG1	HP:0001790	Nonimmune hydrops fetalis	1/1	OMIM:608540
56052	ALG1	HP:0001744	Splenomegaly	1/1	OMIM:608540
56052	ALG1	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040282	ORPHA:79327
56098	PCDHGC4	HP:0001250	Seizure	10/19	OMIM:619880
56098	PCDHGC4	HP:0001252	Hypotonia	10/19	OMIM:619880
56098	PCDHGC4	HP:0001249	Intellectual disability	18/19	OMIM:619880
56098	PCDHGC4	HP:0006055	Ulnar deviated club hands	3/19	OMIM:619880
56098	PCDHGC4	HP:0006150	Swan neck-like deformities of the fingers	3/19	OMIM:619880
56098	PCDHGC4	HP:0000006	Autosomal dominant inheritance	-	OMIM:619880
56098	PCDHGC4	HP:0002705	High, narrow palate	3/19	OMIM:619880
56098	PCDHGC4	HP:0002120	Cerebral cortical atrophy	3/19	OMIM:619880
56098	PCDHGC4	HP:0003593	Infantile onset	-	OMIM:619880
56098	PCDHGC4	HP:0003577	Congenital onset	-	OMIM:619880
56098	PCDHGC4	HP:0009765	Low hanging columella	1/19	OMIM:619880
56098	PCDHGC4	HP:0003623	Neonatal onset	-	OMIM:619880
56098	PCDHGC4	HP:0011330	Metopic synostosis	3/19	OMIM:619880
56098	PCDHGC4	HP:0011304	Broad thumb	3/19	OMIM:619880
56098	PCDHGC4	HP:0000664	Synophrys	3/19	OMIM:619880
56098	PCDHGC4	HP:0000286	Epicanthus	2/19	OMIM:619880
56098	PCDHGC4	HP:0000276	Long face	2/19	OMIM:619880
56098	PCDHGC4	HP:0000268	Dolichocephaly	1/19	OMIM:619880
56098	PCDHGC4	HP:0030084	Clinodactyly	3/19	OMIM:619880
56098	PCDHGC4	HP:0000252	Microcephaly	12/19	OMIM:619880
56098	PCDHGC4	HP:0000232	Everted lower lip vermilion	2/19	OMIM:619880
56098	PCDHGC4	HP:0000369	Low-set ears	1/19	OMIM:619880
56098	PCDHGC4	HP:0000340	Sloping forehead	1/19	OMIM:619880
56098	PCDHGC4	HP:0000343	Long philtrum	1/19	OMIM:619880
56098	PCDHGC4	HP:0000322	Short philtrum	2/19	OMIM:619880
56098	PCDHGC4	HP:0000303	Mandibular prognathia	2/19	OMIM:619880
56098	PCDHGC4	HP:0000486	Strabismus	1/19	OMIM:619880
56098	PCDHGC4	HP:0012471	Thick vermilion border	2/19	OMIM:619880
56098	PCDHGC4	HP:0000426	Prominent nasal bridge	7/19	OMIM:619880
56098	PCDHGC4	HP:0001822	Hallux valgus	1/19	OMIM:619880
56098	PCDHGC4	HP:0000582	Upslanted palpebral fissure	1/19	OMIM:619880
56098	PCDHGC4	HP:0000577	Exotropia	1/19	OMIM:619880
56098	PCDHGC4	HP:0000565	Esotropia	2/19	OMIM:619880
56154	TEX15	HP:0008734	Decreased testicular size	3/3	OMIM:617960
56154	TEX15	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
56154	TEX15	HP:0031039	Spermatocyte maturation arrest	1/1	OMIM:617960
56154	TEX15	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
56154	TEX15	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
56154	TEX15	HP:0000007	Autosomal recessive inheritance	-	OMIM:617960
56154	TEX15	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
56154	TEX15	HP:0030974	Cryptozoospermia	1/3	OMIM:617960
56154	TEX15	HP:0011961	Non-obstructive azoospermia	2/3	OMIM:617960
56154	TEX15	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
56154	TEX15	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
56154	TEX15	HP:0011462	Young adult onset	3/3	OMIM:617960
56154	TEX15	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
56154	TEX15	HP:0003251	Male infertility	3/3	OMIM:617960
56155	TEX14	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
56155	TEX14	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
56155	TEX14	HP:0000027	Azoospermia	2/2	OMIM:617707
56155	TEX14	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
56155	TEX14	HP:0000007	Autosomal recessive inheritance	-	OMIM:617707
56155	TEX14	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
56155	TEX14	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
56155	TEX14	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
56155	TEX14	HP:0011462	Young adult onset	2/2	OMIM:617707
56155	TEX14	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
56155	TEX14	HP:0003251	Male infertility	2/2	OMIM:617707
56159	TEX11	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
56159	TEX11	HP:0031038	Spermatogenesis maturation arrest	5/5	OMIM:309120
56159	TEX11	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
56159	TEX11	HP:0000029	Testicular atrophy	2/7	OMIM:309120
56159	TEX11	HP:0000027	Azoospermia	7/7	OMIM:309120
56159	TEX11	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
56159	TEX11	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
56159	TEX11	HP:0001419	X-linked recessive inheritance	-	OMIM:309120
56159	TEX11	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
56159	TEX11	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
56159	TEX11	HP:0011462	Young adult onset	7/7	OMIM:309120
56159	TEX11	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
56159	TEX11	HP:0003251	Male infertility	7/7	OMIM:309120
56160	NSMCE3	HP:0032218	Decreased proportion of CD4-positive T cells	3/3	OMIM:617241
56160	NSMCE3	HP:0002514	Cerebral calcification	2/2	OMIM:617241
56160	NSMCE3	HP:0000007	Autosomal recessive inheritance	-	OMIM:617241
56160	NSMCE3	HP:0008936	Axial hypotonia	1/4	OMIM:617241
56160	NSMCE3	HP:0011800	Midface retrusion	1/4	OMIM:617241
56160	NSMCE3	HP:0003496	Increased circulating IgM level	3/3	OMIM:617241
56160	NSMCE3	HP:0011968	Feeding difficulties	-	OMIM:617241
56160	NSMCE3	HP:0011946	Bronchiolitis obliterans	1/1	OMIM:617241
56160	NSMCE3	HP:0011342	Mild global developmental delay	-	OMIM:617241
56160	NSMCE3	HP:0000778	Hypoplasia of the thymus	3/3	OMIM:617241
56160	NSMCE3	HP:0003212	Increased circulating IgE concentration	1/3	OMIM:617241
56160	NSMCE3	HP:0000964	Eczematoid dermatitis	2/4	OMIM:617241
56160	NSMCE3	HP:0000260	Wide anterior fontanel	2/4	OMIM:617241
56160	NSMCE3	HP:0031402	Reduced antigen-specific T cell proliferation	-	OMIM:617241
56160	NSMCE3	HP:0001531	Failure to thrive in infancy	4/4	OMIM:617241
56160	NSMCE3	HP:0001518	Small for gestational age	1/4	OMIM:617241
56160	NSMCE3	HP:0000316	Hypertelorism	1/4	OMIM:617241
56160	NSMCE3	HP:0002972	Reduced delayed hypersensitivity	3/3	OMIM:617241
56160	NSMCE3	HP:0005280	Depressed nasal bridge	1/4	OMIM:617241
56160	NSMCE3	HP:0011133	Increased sensitivity to ionizing radiation	1/1	OMIM:617241
56160	NSMCE3	HP:0005415	Decreased CD8+ T cell proportion	3/3	OMIM:617241
56171	DNAH7	HP:0000007	Autosomal recessive inheritance	-	OMIM:620356
56171	DNAH7	HP:0032559	Short sperm flagella	1/1	OMIM:620356
56171	DNAH7	HP:0032560	Coiled sperm flagella	1/1	OMIM:620356
56171	DNAH7	HP:0034011	Reduced progressive sperm motility	4/4	OMIM:620356
56171	DNAH7	HP:0004469	Chronic bronchitis	4/4	OMIM:620356
56171	DNAH7	HP:0003251	Male infertility	4/4	OMIM:620356
56171	DNAH7	HP:0012257	Absent inner dynein arms	4/4	OMIM:620356
56171	DNAH7	HP:0012207	Reduced sperm motility	3/3	OMIM:620356
56171	DNAH7	HP:0011109	Chronic sinusitis	4/4	OMIM:620356
56172	ANKH	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
56172	ANKH	HP:0001293	Cranial nerve compression	-	OMIM:131300
56172	ANKH	HP:0001291	Abnormal cranial nerve morphology	HP:0040283	ORPHA:1522
56172	ANKH	HP:0001250	Seizure	HP:0040284	ORPHA:1416
56172	ANKH	HP:0001252	Hypotonia	2/7	OMIM:615777
56172	ANKH	HP:0001249	Intellectual disability	5/7	OMIM:615777
56172	ANKH	HP:0001263	Global developmental delay	-	OMIM:615777
56172	ANKH	HP:0002515	Waddling gait	54/102	OMIM:131300
56172	ANKH	HP:0031013	Ankylosis	HP:0040283	ORPHA:1416
56172	ANKH	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:1416
56172	ANKH	HP:0001373	Joint dislocation	HP:0040283	ORPHA:1416
56172	ANKH	HP:0001369	Arthritis	HP:0040281	ORPHA:1416
56172	ANKH	HP:0001386	Joint swelling	HP:0040281	ORPHA:1416
56172	ANKH	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1416
56172	ANKH	HP:0001382	Joint hypermobility	-	OMIM:615777
56172	ANKH	HP:0002684	Thickened calvaria	3/3	OMIM:123000
56172	ANKH	HP:0002677	Small foramen magnum	0/1	OMIM:123000
56172	ANKH	HP:0002694	Sclerosis of skull base	-	OMIM:131300
56172	ANKH	HP:0002694	Sclerosis of skull base	6/6	OMIM:123000
56172	ANKH	HP:0008897	Postnatal growth retardation	-	OMIM:615777
56172	ANKH	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
56172	ANKH	HP:0001324	Muscle weakness	40/96	OMIM:131300
56172	ANKH	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
56172	ANKH	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
56172	ANKH	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
56172	ANKH	HP:0000006	Autosomal dominant inheritance	-	OMIM:118600
56172	ANKH	HP:0000006	Autosomal dominant inheritance	-	OMIM:123000
56172	ANKH	HP:0002652	Skeletal dysplasia	HP:0040282	ORPHA:1522
56172	ANKH	HP:0002650	Scoliosis	12/14	OMIM:131300
56172	ANKH	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
56172	ANKH	HP:0002644	Abnormal pelvic girdle bone morphology	0/3	OMIM:123000
56172	ANKH	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
56172	ANKH	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
56172	ANKH	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
56172	ANKH	HP:0000175	Cleft palate	2/7	OMIM:615777
56172	ANKH	HP:0005017	Polyarticular chondrocalcinosis	0/2	OMIM:123000
56172	ANKH	HP:0005017	Polyarticular chondrocalcinosis	11/11	OMIM:118600
56172	ANKH	HP:0025405	Visual fixation instability	1/1	OMIM:123000
56172	ANKH	HP:0002758	Osteoarthritis	11/11	OMIM:118600
56172	ANKH	HP:0002758	Osteoarthritis	HP:0040282	ORPHA:1416
56172	ANKH	HP:0002753	Thin bony cortex	1/1	OMIM:123000
56172	ANKH	HP:0002007	Frontal bossing	2/2	OMIM:123000
56172	ANKH	HP:0003388	Easy fatigability	36/76	OMIM:131300
56172	ANKH	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
56172	ANKH	HP:0100593	Calcification of cartilage	HP:0040281	ORPHA:1416
56172	ANKH	HP:0005906	Delayed pneumatization of the mastoid process	1/1	OMIM:123000
56172	ANKH	HP:0002148	Hypophosphatemia	1/2	OMIM:123000
56172	ANKH	HP:0003593	Infantile onset	2/5	OMIM:123000
56172	ANKH	HP:0003577	Congenital onset	1/3	OMIM:123000
56172	ANKH	HP:0003581	Adult onset	11/11	OMIM:118600
56172	ANKH	HP:0100769	Synovitis	HP:0040283	ORPHA:1416
56172	ANKH	HP:0011968	Feeding difficulties	1/1	OMIM:123000
56172	ANKH	HP:0010628	Facial palsy	HP:0040283	ORPHA:1522
56172	ANKH	HP:0010628	Facial palsy	4/5	OMIM:123000
56172	ANKH	HP:0003510	Severe short stature	7/7	OMIM:615777
56172	ANKH	HP:0002315	Headache	-	OMIM:131300
56172	ANKH	HP:0004976	Knee dislocation	6/7	OMIM:615777
56172	ANKH	HP:0004975	Erlenmeyer flask deformity of the femurs	-	OMIM:123000
56172	ANKH	HP:0009803	Short phalanx of finger	-	OMIM:615777
56172	ANKH	HP:0009763	Limb pain	63/92	OMIM:131300
56172	ANKH	HP:0003621	Juvenile onset	1/1	OMIM:123000
56172	ANKH	HP:0003621	Juvenile onset	-	OMIM:131300
56172	ANKH	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
56172	ANKH	HP:0009085	Alveolar ridge overgrowth	2/2	OMIM:123000
56172	ANKH	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
56172	ANKH	HP:0000639	Nystagmus	1/2	OMIM:123000
56172	ANKH	HP:6001056	Out-toeing	-	OMIM:131300
56172	ANKH	HP:0000651	Diplopia	-	OMIM:131300
56172	ANKH	HP:0000648	Optic atrophy	2/3	OMIM:123000
56172	ANKH	HP:0001945	Fever	HP:0040283	ORPHA:1416
56172	ANKH	HP:0001956	Truncal obesity	2/7	OMIM:615777
56172	ANKH	HP:0001903	Anemia	HP:0040283	OMIM:131300
56172	ANKH	HP:6001071	Incus ankylosis	-	OMIM:123000
56172	ANKH	HP:0010049	Short metacarpal	-	OMIM:615777
56172	ANKH	HP:0011386	Narrow internal auditory canal	1/1	OMIM:123000
56172	ANKH	HP:0000696	Delayed eruption of permanent teeth	1/1	OMIM:123000
56172	ANKH	HP:0000680	Delayed eruption of primary teeth	1/1	OMIM:123000
56172	ANKH	HP:0000678	Dental crowding	2/3	OMIM:123000
56172	ANKH	HP:0000678	Dental crowding	-	OMIM:615777
56172	ANKH	HP:0000692	Tooth malposition	-	OMIM:123000
56172	ANKH	HP:0000689	Dental malocclusion	2/2	OMIM:123000
56172	ANKH	HP:0012649	Increased inflammatory response	HP:0040283	ORPHA:1416
56172	ANKH	HP:0000670	Carious teeth	-	OMIM:131300
56172	ANKH	HP:0011304	Broad thumb	2/7	OMIM:615777
56172	ANKH	HP:0000668	Hypodontia	-	OMIM:615777
56172	ANKH	HP:0000664	Synophrys	-	OMIM:615777
56172	ANKH	HP:0004322	Short stature	0/3	OMIM:123000
56172	ANKH	HP:0005645	Intervertebral disk calcification	0/2	OMIM:123000
56172	ANKH	HP:0003072	Hypercalcemia	1/2	OMIM:123000
56172	ANKH	HP:0004396	Poor appetite	-	OMIM:131300
56172	ANKH	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
56172	ANKH	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
56172	ANKH	HP:0003040	Arthropathy	11/11	OMIM:118600
56172	ANKH	HP:0003015	Flared metaphysis	5/5	OMIM:123000
56172	ANKH	HP:0003016	Metaphyseal widening	-	OMIM:123000
56172	ANKH	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
56172	ANKH	HP:0003026	Short long bone	7/7	OMIM:615777
56172	ANKH	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
56172	ANKH	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:1416
56172	ANKH	HP:0000767	Pectus excavatum	2/7	OMIM:615777
56172	ANKH	HP:0000768	Pectus carinatum	1/7	OMIM:615777
56172	ANKH	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
56172	ANKH	HP:0000750	Delayed speech and language development	-	OMIM:615777
56172	ANKH	HP:0011463	Childhood onset	2/5	OMIM:123000
56172	ANKH	HP:0011461	Fetal onset	7/7	OMIM:615777
56172	ANKH	HP:0000774	Narrow chest	2/7	OMIM:615777
56172	ANKH	HP:0004437	Cranial hyperostosis	5/5	OMIM:123000
56172	ANKH	HP:0004407	Bony paranasal bossing	4/4	OMIM:123000
56172	ANKH	HP:0000925	Abnormality of the vertebral column	0/3	OMIM:123000
56172	ANKH	HP:0000926	Platyspondyly	1/7	OMIM:615777
56172	ANKH	HP:0003180	Flat acetabular roof	-	OMIM:615777
56172	ANKH	HP:0003155	Elevated circulating alkaline phosphatase concentration	3/3	OMIM:123000
56172	ANKH	HP:0004482	Relative macrocephaly	-	OMIM:615777
56172	ANKH	HP:0004493	Craniofacial hyperostosis	HP:0040281	ORPHA:1522
56172	ANKH	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
56172	ANKH	HP:0000867	Secondary hyperparathyroidism	0/2	OMIM:123000
56172	ANKH	HP:0000823	Delayed puberty	-	OMIM:131300
56172	ANKH	HP:0000894	Short clavicles	-	OMIM:615777
56172	ANKH	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
56172	ANKH	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:1416
56172	ANKH	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
56172	ANKH	HP:0000934	Chondrocalcinosis	HP:0040283	ORPHA:1416
56172	ANKH	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1522
56172	ANKH	HP:0000286	Epicanthus	1/7	OMIM:615777
56172	ANKH	HP:0000280	Coarse facial features	2/7	OMIM:615777
56172	ANKH	HP:0000256	Macrocephaly	5/5	OMIM:123000
56172	ANKH	HP:0000276	Long face	1/1	OMIM:123000
56172	ANKH	HP:0005108	Abnormal intervertebral disk morphology	HP:0040281	ORPHA:1416
56172	ANKH	HP:0002829	Arthralgia	HP:0040281	ORPHA:1416
56172	ANKH	HP:0002827	Hip dislocation	3/7	OMIM:615777
56172	ANKH	HP:0006384	Club-shaped distal femur	-	OMIM:123000
56172	ANKH	HP:0000238	Hydrocephalus	0/2	OMIM:123000
56172	ANKH	HP:0000252	Microcephaly	-	OMIM:615777
56172	ANKH	HP:0000212	Gingival overgrowth	1/1	OMIM:123000
56172	ANKH	HP:0002857	Genu valgum	-	OMIM:131300
56172	ANKH	HP:0001533	Slender build	-	OMIM:131300
56172	ANKH	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
56172	ANKH	HP:0007807	Optic nerve compression	-	OMIM:131300
56172	ANKH	HP:0012368	Flat face	7/7	OMIM:615777
56172	ANKH	HP:0012370	Prominence of the zygomatic bone	1/1	OMIM:123000
56172	ANKH	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
56172	ANKH	HP:0031428	Increased circulating osteocalcin level	1/1	OMIM:123000
56172	ANKH	HP:0000365	Hearing impairment	4/5	OMIM:123000
56172	ANKH	HP:0000365	Hearing impairment	10/67	OMIM:131300
56172	ANKH	HP:0000360	Tinnitus	1/1	OMIM:123000
56172	ANKH	HP:0000358	Posteriorly rotated ears	1/1	OMIM:123000
56172	ANKH	HP:0000369	Low-set ears	1/1	OMIM:123000
56172	ANKH	HP:0000343	Long philtrum	1/7	OMIM:615777
56172	ANKH	HP:0011002	Osteopetrosis	HP:0040281	ORPHA:1522
56172	ANKH	HP:0011001	Increased bone mineral density	-	OMIM:131300
56172	ANKH	HP:0000337	Broad forehead	1/1	OMIM:123000
56172	ANKH	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1522
56172	ANKH	HP:0000316	Hypertelorism	4/4	OMIM:123000
56172	ANKH	HP:0000311	Round face	2/7	OMIM:615777
56172	ANKH	HP:0002970	Genu varum	-	OMIM:615777
56172	ANKH	HP:0000303	Mandibular prognathia	-	OMIM:131300
56172	ANKH	HP:0000303	Mandibular prognathia	1/3	OMIM:123000
56172	ANKH	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:1522
56172	ANKH	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:1522
56172	ANKH	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:1522
56172	ANKH	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
56172	ANKH	HP:0000470	Short neck	1/7	OMIM:615777
56172	ANKH	HP:0001769	Broad foot	HP:0040283	OMIM:615777
56172	ANKH	HP:0001763	Pes planus	1/7	OMIM:615777
56172	ANKH	HP:0000452	Choanal stenosis	1/3	OMIM:123000
56172	ANKH	HP:0001742	Nasal congestion	-	OMIM:123000
56172	ANKH	HP:0000410	Mixed hearing impairment	3/3	OMIM:123000
56172	ANKH	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1522
56172	ANKH	HP:0000431	Wide nasal bridge	1/1	OMIM:123000
56172	ANKH	HP:0000426	Prominent nasal bridge	1/1	OMIM:123000
56172	ANKH	HP:0005450	Calvarial osteosclerosis	-	OMIM:123000
56172	ANKH	HP:0001840	Metatarsus adductus	-	OMIM:615777
56172	ANKH	HP:0000520	Proptosis	2/4	OMIM:131300
56172	ANKH	HP:0000520	Proptosis	7/7	OMIM:615777
56172	ANKH	HP:0000506	Telecanthus	HP:0040282	ORPHA:1522
56172	ANKH	HP:0000506	Telecanthus	1/1	OMIM:123000
56172	ANKH	HP:0000505	Visual impairment	HP:0040283	ORPHA:1522
56172	ANKH	HP:0000577	Exotropia	1/2	OMIM:123000
56172	ANKH	HP:0000592	Blue sclerae	2/7	OMIM:615777
56172	ANKH	HP:0011225	Epiblepharon	1/1	OMIM:123000
56172	ANKH	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
56172	ANKH	HP:0012514	Lower limb pain	4/4	OMIM:131300
56203	LMOD3	HP:0001181	Adducted thumb	HP:0040283	ORPHA:171430
56203	LMOD3	HP:0003798	Nemaline bodies	11/11	OMIM:616165
56203	LMOD3	HP:0003798	Nemaline bodies	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0003798	Nemaline bodies	HP:0040282	ORPHA:171430
56203	LMOD3	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:171436
56203	LMOD3	HP:0001290	Generalized hypotonia	21/21	OMIM:616165
56203	LMOD3	HP:0001270	Motor delay	HP:0040282	ORPHA:171430
56203	LMOD3	HP:0001288	Gait disturbance	HP:0040282	ORPHA:171436
56203	LMOD3	HP:0001283	Bulbar palsy	2/2	OMIM:616165
56203	LMOD3	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:171436
56203	LMOD3	HP:0002515	Waddling gait	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171436
56203	LMOD3	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171430
56203	LMOD3	HP:0003811	Neonatal death	7/21	OMIM:616165
56203	LMOD3	HP:0001371	Flexion contracture	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0001371	Flexion contracture	HP:0040282	ORPHA:171430
56203	LMOD3	HP:0001371	Flexion contracture	-	OMIM:616165
56203	LMOD3	HP:0000054	Micropenis	HP:0040283	ORPHA:171430
56203	LMOD3	HP:0000047	Hypospadias	HP:0040283	ORPHA:171430
56203	LMOD3	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171430
56203	LMOD3	HP:0007514	Edema of the dorsum of hands	HP:0040283	ORPHA:171430
56203	LMOD3	HP:0001324	Muscle weakness	21/21	OMIM:616165
56203	LMOD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:616165
56203	LMOD3	HP:0002650	Scoliosis	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:171436
56203	LMOD3	HP:0002747	Respiratory insufficiency due to muscle weakness	21/21	OMIM:616165
56203	LMOD3	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:171436
56203	LMOD3	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:171430
56203	LMOD3	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:171436
56203	LMOD3	HP:0002015	Dysphagia	HP:0040282	ORPHA:171430
56203	LMOD3	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0003324	Generalized muscle weakness	21/21	OMIM:616165
56203	LMOD3	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:171430
56203	LMOD3	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:171436
56203	LMOD3	HP:0003577	Congenital onset	21/21	OMIM:616165
56203	LMOD3	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:171436
56203	LMOD3	HP:0011968	Feeding difficulties	21/21	OMIM:616165
56203	LMOD3	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0010628	Facial palsy	2/2	OMIM:616165
56203	LMOD3	HP:0010628	Facial palsy	HP:0040282	ORPHA:171436
56203	LMOD3	HP:0010628	Facial palsy	HP:0040282	ORPHA:171430
56203	LMOD3	HP:0002375	Hypokinesia	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0002375	Hypokinesia	HP:0040282	ORPHA:171430
56203	LMOD3	HP:0006829	Severe muscular hypotonia	21/21	OMIM:616165
56203	LMOD3	HP:0006829	Severe muscular hypotonia	HP:0040282	ORPHA:171430
56203	LMOD3	HP:0000602	Ophthalmoplegia	6/21	OMIM:616165
56203	LMOD3	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:171430
56203	LMOD3	HP:0009025	Increased connective tissue	HP:0040282	ORPHA:171430
56203	LMOD3	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:171436
56203	LMOD3	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:171430
56203	LMOD3	HP:0000774	Narrow chest	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0000775	Abnormality of the diaphragm	HP:0040283	ORPHA:171430
56203	LMOD3	HP:0003198	Myopathy	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0000883	Thin ribs	HP:0040283	ORPHA:171430
56203	LMOD3	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0003202	Skeletal muscle atrophy	-	OMIM:616165
56203	LMOD3	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:171430
56203	LMOD3	HP:0005855	Multiple prenatal fractures	HP:0040282	ORPHA:171430
56203	LMOD3	HP:0000275	Narrow face	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0002827	Hip dislocation	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0002808	Kyphosis	HP:0040284	ORPHA:171436
56203	LMOD3	HP:0002803	Congenital contracture	6/21	OMIM:616165
56203	LMOD3	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:171430
56203	LMOD3	HP:0000239	Large fontanelles	HP:0040283	ORPHA:171430
56203	LMOD3	HP:0002878	Respiratory failure	HP:0040282	ORPHA:171430
56203	LMOD3	HP:0000218	High palate	HP:0040282	ORPHA:171436
56203	LMOD3	HP:0002877	Nocturnal hypoventilation	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:171430
56203	LMOD3	HP:0001561	Polyhydramnios	13/21	OMIM:616165
56203	LMOD3	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:171430
56203	LMOD3	HP:0001558	Decreased fetal movement	9/21	OMIM:616165
56203	LMOD3	HP:0002857	Genu valgum	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0001522	Death in infancy	6/21	OMIM:616165
56203	LMOD3	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0030198	Fatigable weakness of distal limb muscles	HP:0040282	ORPHA:171436
56203	LMOD3	HP:0000369	Low-set ears	HP:0040283	ORPHA:171430
56203	LMOD3	HP:0000347	Micrognathia	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0001623	Breech presentation	4/21	OMIM:616165
56203	LMOD3	HP:0001623	Breech presentation	HP:0040282	ORPHA:171430
56203	LMOD3	HP:0001622	Premature birth	HP:0040283	ORPHA:171430
56203	LMOD3	HP:0001622	Premature birth	7/21	OMIM:616165
56203	LMOD3	HP:0002970	Genu varum	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0000470	Short neck	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0000508	Ptosis	HP:0040283	ORPHA:171436
56203	LMOD3	HP:0012548	Fatty replacement of skeletal muscle	11/11	OMIM:616165
56244	BTNL2	HP:0033505	Livedo reticularis	HP:0040283	ORPHA:797
56244	BTNL2	HP:0003701	Proximal muscle weakness	HP:0040283	ORPHA:797
56244	BTNL2	HP:0100828	Increased total T cell count	HP:0040282	ORPHA:797
56244	BTNL2	HP:0001217	Clubbing	-	OMIM:612387
56244	BTNL2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:797
56244	BTNL2	HP:0012062	Bone cyst	HP:0040283	ORPHA:797
56244	BTNL2	HP:0001399	Hepatic failure	HP:0040283	ORPHA:797
56244	BTNL2	HP:0001369	Arthritis	HP:0040283	ORPHA:797
56244	BTNL2	HP:0001386	Joint swelling	HP:0040282	ORPHA:797
56244	BTNL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:612387
56244	BTNL2	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:797
56244	BTNL2	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:797
56244	BTNL2	HP:0002781	Upper airway obstruction	HP:0040283	ORPHA:797
56244	BTNL2	HP:0001410	Decreased liver function	HP:0040282	ORPHA:797
56244	BTNL2	HP:0001409	Portal hypertension	HP:0040283	ORPHA:797
56244	BTNL2	HP:0002733	Abnormal lymph node morphology	HP:0040283	ORPHA:797
56244	BTNL2	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:797
56244	BTNL2	HP:0011801	Enlargement of parotid gland	HP:0040283	ORPHA:797
56244	BTNL2	HP:0002088	Abnormal lung morphology	HP:0040282	ORPHA:797
56244	BTNL2	HP:0002097	Emphysema	-	OMIM:612387
56244	BTNL2	HP:0002097	Emphysema	HP:0040283	ORPHA:797
56244	BTNL2	HP:0002094	Dyspnea	-	OMIM:612387
56244	BTNL2	HP:0002094	Dyspnea	HP:0040282	ORPHA:797
56244	BTNL2	HP:0002092	Pulmonary arterial hypertension	-	OMIM:612387
56244	BTNL2	HP:0002091	Restrictive ventilatory defect	-	OMIM:612387
56244	BTNL2	HP:0002045	Hypothermia	HP:0040284	ORPHA:797
56244	BTNL2	HP:0002150	Hypercalciuria	HP:0040283	ORPHA:797
56244	BTNL2	HP:0002103	Abnormal pleura morphology	HP:0040282	ORPHA:797
56244	BTNL2	HP:0004756	Ventricular tachycardia	HP:0040283	ORPHA:797
56244	BTNL2	HP:0002113	Pulmonary infiltrates	-	OMIM:612387
56244	BTNL2	HP:0002110	Bronchiectasis	HP:0040283	OMIM:612387
56244	BTNL2	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:797
56244	BTNL2	HP:0002107	Pneumothorax	-	OMIM:612387
56244	BTNL2	HP:0002107	Pneumothorax	HP:0040283	ORPHA:797
56244	BTNL2	HP:0002105	Hemoptysis	-	OMIM:612387
56244	BTNL2	HP:0002105	Hemoptysis	HP:0040284	ORPHA:797
56244	BTNL2	HP:0011850	Parotitis	HP:0040283	ORPHA:797
56244	BTNL2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:797
56244	BTNL2	HP:0002240	Hepatomegaly	-	OMIM:612387
56244	BTNL2	HP:0003581	Adult onset	-	OMIM:612387
56244	BTNL2	HP:0002202	Pleural effusion	HP:0040284	OMIM:612387
56244	BTNL2	HP:0002202	Pleural effusion	HP:0040282	ORPHA:797
56244	BTNL2	HP:0002206	Pulmonary fibrosis	-	OMIM:612387
56244	BTNL2	HP:0002206	Pulmonary fibrosis	HP:0040283	ORPHA:797
56244	BTNL2	HP:0100721	Mediastinal lymphadenopathy	-	OMIM:612387
56244	BTNL2	HP:0100749	Chest pain	-	OMIM:612387
56244	BTNL2	HP:0100749	Chest pain	HP:0040282	ORPHA:797
56244	BTNL2	HP:0010628	Facial palsy	-	OMIM:612387
56244	BTNL2	HP:0010628	Facial palsy	HP:0040283	ORPHA:797
56244	BTNL2	HP:0001010	Hypopigmentation of the skin	HP:0040283	ORPHA:797
56244	BTNL2	HP:0200036	Skin nodule	HP:0040282	ORPHA:797
56244	BTNL2	HP:0200035	Skin plaque	HP:0040283	ORPHA:797
56244	BTNL2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:797
56244	BTNL2	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:797
56244	BTNL2	HP:0100699	Scarring	HP:0040283	ORPHA:797
56244	BTNL2	HP:0001970	Tubulointerstitial nephritis	HP:0040283	ORPHA:797
56244	BTNL2	HP:0000618	Blindness	HP:0040283	ORPHA:797
56244	BTNL2	HP:0001945	Fever	HP:0040282	ORPHA:797
56244	BTNL2	HP:0000620	Dacryocystitis	HP:0040283	ORPHA:797
56244	BTNL2	HP:0001903	Anemia	HP:0040283	ORPHA:797
56244	BTNL2	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:797
56244	BTNL2	HP:0003011	Abnormality of the musculature	HP:0040282	ORPHA:797
56244	BTNL2	HP:0012735	Cough	HP:0040282	ORPHA:797
56244	BTNL2	HP:0012722	Heart block	HP:0040283	ORPHA:797
56244	BTNL2	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:797
56244	BTNL2	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:797
56244	BTNL2	HP:0000836	Hyperthyroidism	HP:0040284	ORPHA:797
56244	BTNL2	HP:0000834	Abnormality of the adrenal glands	HP:0040284	ORPHA:797
56244	BTNL2	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:797
56244	BTNL2	HP:0030872	Abnormal cardiac ventricular function	HP:0040283	ORPHA:797
56244	BTNL2	HP:0010310	Chylothorax	HP:0040283	ORPHA:797
56244	BTNL2	HP:0000953	Hyperpigmentation of the skin	HP:0040283	ORPHA:797
56244	BTNL2	HP:0040186	Maculopapular exanthema	HP:0040283	ORPHA:797
56244	BTNL2	HP:0011675	Arrhythmia	HP:0040283	ORPHA:797
56244	BTNL2	HP:0001596	Alopecia	HP:0040283	ORPHA:797
56244	BTNL2	HP:0012243	Abnormal reproductive system morphology	HP:0040283	ORPHA:797
56244	BTNL2	HP:0007734	Enlarged lacrimal glands	HP:0040283	ORPHA:797
56244	BTNL2	HP:0012219	Erythema nodosum	-	OMIM:612387
56244	BTNL2	HP:0012219	Erythema nodosum	HP:0040282	ORPHA:797
56244	BTNL2	HP:0012378	Fatigue	HP:0040282	ORPHA:797
56244	BTNL2	HP:0006530	Abnormal pulmonary interstitial morphology	-	OMIM:612387
56244	BTNL2	HP:0002922	Increased CSF protein concentration	HP:0040283	ORPHA:797
56244	BTNL2	HP:0002921	Abnormal cerebrospinal fluid morphology	HP:0040283	ORPHA:797
56244	BTNL2	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:797
56244	BTNL2	HP:0030146	Abnormal liver parenchyma morphology	HP:0040283	ORPHA:797
56244	BTNL2	HP:0032976	Elevated bronchoalveolar lavage fluid lymphocyte proportion	-	OMIM:612387
56244	BTNL2	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:797
56244	BTNL2	HP:0000433	Abnormal nasal mucosa morphology	HP:0040283	ORPHA:797
56244	BTNL2	HP:0012418	Hypoxemia	-	OMIM:612387
56244	BTNL2	HP:0001744	Splenomegaly	-	OMIM:612387
56244	BTNL2	HP:0000518	Cataract	HP:0040283	ORPHA:797
56244	BTNL2	HP:0001824	Weight loss	HP:0040282	ORPHA:797
56244	BTNL2	HP:0000502	Abnormal conjunctiva morphology	HP:0040283	ORPHA:797
56244	BTNL2	HP:0000501	Glaucoma	HP:0040283	ORPHA:797
56244	BTNL2	HP:0000554	Uveitis	-	OMIM:612387
56244	BTNL2	HP:0000554	Uveitis	HP:0040282	ORPHA:797
56244	BTNL2	HP:0001880	Increased total eosinophil count	HP:0040284	ORPHA:797
56244	BTNL2	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:797
56244	BTNL2	HP:0001878	Hemolytic anemia	HP:0040284	ORPHA:797
56244	BTNL2	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:797
56246	MRAP	HP:0002445	Tetraplegia	HP:0040284	ORPHA:361
56246	MRAP	HP:0001285	Spastic tetraparesis	1/1	OMIM:607398
56246	MRAP	HP:0001249	Intellectual disability	HP:0040284	ORPHA:361
56246	MRAP	HP:0002574	Episodic abdominal pain	HP:0040282	ORPHA:361
56246	MRAP	HP:0002571	Achalasia	1/2	OMIM:607398
56246	MRAP	HP:0007440	Generalized hyperpigmentation	HP:0040281	ORPHA:361
56246	MRAP	HP:0031076	Impaired cortisol response to insulin stimulation test	HP:0040281	ORPHA:361
56246	MRAP	HP:0008689	Bilateral cryptorchidism	1/1	OMIM:607398
56246	MRAP	HP:0000098	Tall stature	HP:0040283	ORPHA:361
56246	MRAP	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:361
56246	MRAP	HP:0000027	Azoospermia	HP:0040284	ORPHA:361
56246	MRAP	HP:0033725	Thin corpus callosum	1/1	OMIM:607398
56246	MRAP	HP:0001325	Hypoglycemic coma	HP:0040284	ORPHA:361
56246	MRAP	HP:0000010	Recurrent urinary tract infections	HP:0040284	ORPHA:361
56246	MRAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:607398
56246	MRAP	HP:0001336	Myoclonus	1/1	OMIM:607398
56246	MRAP	HP:0002615	Hypotension	HP:0040281	ORPHA:361
56246	MRAP	HP:0025451	Testicular adrenal rest tumor	HP:0040283	ORPHA:361
56246	MRAP	HP:0000127	Renal salt wasting	HP:0040282	ORPHA:361
56246	MRAP	HP:0031214	Decreased circulating dehydroepiandrosterone concentration	HP:0040281	ORPHA:361
56246	MRAP	HP:0002719	Recurrent infections	HP:0040282	ORPHA:361
56246	MRAP	HP:0002019	Constipation	HP:0040282	ORPHA:361
56246	MRAP	HP:0002014	Diarrhea	HP:0040282	ORPHA:361
56246	MRAP	HP:0002013	Vomiting	HP:0040282	ORPHA:361
56246	MRAP	HP:0002039	Anorexia	HP:0040282	ORPHA:361
56246	MRAP	HP:0008163	Decreased circulating cortisol level	HP:0040280	ORPHA:361
56246	MRAP	HP:0008163	Decreased circulating cortisol level	2/2	OMIM:607398
56246	MRAP	HP:0002153	Hyperkalemia	HP:0040282	ORPHA:361
56246	MRAP	HP:0002187	Intellectual disability, profound	1/1	OMIM:607398
56246	MRAP	HP:0002173	Hypoglycemic seizures	HP:0040282	ORPHA:361
56246	MRAP	HP:0100618	Leydig cell neoplasia	HP:0040284	ORPHA:361
56246	MRAP	HP:0003623	Neonatal onset	1/1	OMIM:607398
56246	MRAP	HP:0012605	Hypernatriuria	HP:0040282	ORPHA:361
56246	MRAP	HP:0001943	Hypoglycemia	1/1	OMIM:607398
56246	MRAP	HP:0011344	Severe global developmental delay	1/1	OMIM:607398
56246	MRAP	HP:0001988	Recurrent hypoglycemia	11/11	OMIM:607398
56246	MRAP	HP:0004319	Decreased circulating aldosterone concentration	HP:0040283	ORPHA:361
56246	MRAP	HP:0012734	Ketotic hypoglycemia	HP:0040281	ORPHA:361
56246	MRAP	HP:0003154	Increased circulating ACTH level	2/2	OMIM:607398
56246	MRAP	HP:0000851	Congenital hypothyroidism	HP:0040284	ORPHA:361
56246	MRAP	HP:0000846	Adrenal insufficiency	HP:0040280	ORPHA:361
56246	MRAP	HP:0000826	Precocious puberty	HP:0040283	ORPHA:361
56246	MRAP	HP:0040084	Abnormal circulating renin concentration	0/1	OMIM:607398
56246	MRAP	HP:0000953	Hyperpigmentation of the skin	1/1	OMIM:607398
56246	MRAP	HP:0000252	Microcephaly	1/1	OMIM:607398
56246	MRAP	HP:0001508	Failure to thrive	HP:0040281	ORPHA:361
56246	MRAP	HP:0011043	Abnormal circulating adrenocorticotropin concentration	HP:0040281	ORPHA:361
56246	MRAP	HP:0006532	Recurrent pneumonia	1/1	OMIM:607398
56246	MRAP	HP:0002902	Hyponatremia	HP:0040282	ORPHA:361
56246	MRAP	HP:0032794	Myoclonic seizure	1/1	OMIM:607398
56246	MRAP	HP:0002960	Autoimmunity	-	ORPHA:361
56246	MRAP	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:361
56246	MRAP	HP:0011153	Focal motor seizure	1/1	OMIM:607398
56246	MRAP	HP:0012444	Brain atrophy	1/1	OMIM:607398
56246	MRAP	HP:0012432	Chronic fatigue	HP:0040282	ORPHA:361
56246	MRAP	HP:0000522	Alacrima	1/2	OMIM:607398
56246	MRAP	HP:0001824	Weight loss	HP:0040282	ORPHA:361
56259	CTNNBL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619846
56259	CTNNBL1	HP:0002716	Lymphadenopathy	1/1	OMIM:619846
56259	CTNNBL1	HP:0002729	Follicular hyperplasia	1/1	OMIM:619846
56259	CTNNBL1	HP:0001045	Vitiligo	1/1	OMIM:619846
56259	CTNNBL1	HP:0020113	Decreased proportion of regulatory T cells	1/1	OMIM:619846
56259	CTNNBL1	HP:0001973	Autoimmune thrombocytopenia	1/1	OMIM:619846
56259	CTNNBL1	HP:0004313	Decreased circulating immunoglobulin concentration	1/1	OMIM:619846
56259	CTNNBL1	HP:0011463	Childhood onset	1/1	OMIM:619846
56259	CTNNBL1	HP:0001510	Growth delay	1/1	OMIM:619846
56259	CTNNBL1	HP:0005425	Recurrent sinopulmonary infections	1/1	OMIM:619846
56259	CTNNBL1	HP:0005424	Absent specific antibody response	1/1	OMIM:619846
56259	CTNNBL1	HP:0001888	Decreased total lymphocyte count	1/1	OMIM:619846
56259	CTNNBL1	HP:0030388	Decreased class-switched memory B cell proportion	1/1	OMIM:619846
56262	LRRC8A	HP:0100806	Sepsis	HP:0040283	ORPHA:33110
56262	LRRC8A	HP:0001287	Meningitis	HP:0040283	ORPHA:33110
56262	LRRC8A	HP:0001369	Arthritis	HP:0040282	ORPHA:33110
56262	LRRC8A	HP:0000006	Autosomal dominant inheritance	-	OMIM:613506
56262	LRRC8A	HP:0012115	Hepatitis	HP:0040283	ORPHA:33110
56262	LRRC8A	HP:0002754	Osteomyelitis	HP:0040282	ORPHA:33110
56262	LRRC8A	HP:0002719	Recurrent infections	HP:0040281	ORPHA:33110
56262	LRRC8A	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:33110
56262	LRRC8A	HP:0002024	Malabsorption	HP:0040283	ORPHA:33110
56262	LRRC8A	HP:0002014	Diarrhea	HP:0040281	ORPHA:33110
56262	LRRC8A	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:33110
56262	LRRC8A	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:33110
56262	LRRC8A	HP:0100658	Cellulitis	HP:0040283	ORPHA:33110
56262	LRRC8A	HP:0200043	Verrucae	HP:0040283	ORPHA:33110
56262	LRRC8A	HP:0001944	Dehydration	HP:0040283	ORPHA:33110
56262	LRRC8A	HP:0001945	Fever	HP:0040281	ORPHA:33110
56262	LRRC8A	HP:0012735	Cough	HP:0040281	ORPHA:33110
56262	LRRC8A	HP:0004432	Agammaglobulinemia	-	OMIM:613506
56262	LRRC8A	HP:0004432	Agammaglobulinemia	HP:0040281	ORPHA:33110
56262	LRRC8A	HP:0000988	Skin rash	HP:0040281	ORPHA:33110
56262	LRRC8A	HP:0000286	Epicanthus	HP:0040283	ORPHA:33110
56262	LRRC8A	HP:0000286	Epicanthus	-	OMIM:613506
56262	LRRC8A	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:33110
56262	LRRC8A	HP:0000246	Sinusitis	HP:0040281	ORPHA:33110
56262	LRRC8A	HP:0000218	High palate	HP:0040283	ORPHA:33110
56262	LRRC8A	HP:0000218	High palate	-	OMIM:613506
56262	LRRC8A	HP:0001508	Failure to thrive	HP:0040282	ORPHA:33110
56262	LRRC8A	HP:0012378	Fatigue	HP:0040281	ORPHA:33110
56262	LRRC8A	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:33110
56262	LRRC8A	HP:0000389	Chronic otitis media	HP:0040281	ORPHA:33110
56262	LRRC8A	HP:0000369	Low-set ears	-	OMIM:613506
56262	LRRC8A	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33110
56262	LRRC8A	HP:0000316	Hypertelorism	-	OMIM:613506
56262	LRRC8A	HP:0000509	Conjunctivitis	HP:0040281	ORPHA:33110
56262	LRRC8A	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33110
56270	WDR45B	HP:0001250	Seizure	5/6	OMIM:617977
56270	WDR45B	HP:0001252	Hypotonia	3/6	OMIM:617977
56270	WDR45B	HP:0001263	Global developmental delay	9/12	OMIM:617977
56270	WDR45B	HP:0001258	Spastic paraplegia	6/6	OMIM:617977
56270	WDR45B	HP:0001257	Spasticity	1/6	OMIM:617977
56270	WDR45B	HP:0002540	Inability to walk	-	OMIM:617977
56270	WDR45B	HP:0002510	Spastic tetraplegia	5/6	OMIM:617977
56270	WDR45B	HP:0001344	Absent speech	-	OMIM:617977
56270	WDR45B	HP:0000007	Autosomal recessive inheritance	-	OMIM:617977
56270	WDR45B	HP:0008936	Axial hypotonia	2/6	OMIM:617977
56270	WDR45B	HP:0002751	Kyphoscoliosis	1/6	OMIM:617977
56270	WDR45B	HP:0002098	Respiratory distress	1/6	OMIM:617977
56270	WDR45B	HP:0002079	Hypoplasia of the corpus callosum	5/5	OMIM:617977
56270	WDR45B	HP:0002119	Ventriculomegaly	7/11	OMIM:617977
56270	WDR45B	HP:0002187	Intellectual disability, profound	6/6	OMIM:617977
56270	WDR45B	HP:0003593	Infantile onset	3/6	OMIM:617977
56270	WDR45B	HP:0003676	Progressive	-	OMIM:617977
56270	WDR45B	HP:0003623	Neonatal onset	2/6	OMIM:617977
56270	WDR45B	HP:0006872	Cerebral hypoplasia	-	OMIM:617977
56270	WDR45B	HP:0030674	Antenatal onset	1/6	OMIM:617977
56270	WDR45B	HP:0034295	Reduced cerebral white matter volume	5/5	OMIM:617977
56270	WDR45B	HP:0034392	Joint contracture	5/6	OMIM:617977
56270	WDR45B	HP:0000252	Microcephaly	4/12	OMIM:617977
56270	WDR45B	HP:0011167	Focal tonic seizure	1/6	OMIM:617977
56270	WDR45B	HP:0000505	Visual impairment	-	OMIM:617977
56479	KCNQ5	HP:0025116	Fetal distress	1/4	OMIM:617601
56479	KCNQ5	HP:0001250	Seizure	2/4	OMIM:617601
56479	KCNQ5	HP:0001252	Hypotonia	4/4	OMIM:617601
56479	KCNQ5	HP:0001249	Intellectual disability	4/4	OMIM:617601
56479	KCNQ5	HP:0001263	Global developmental delay	-	OMIM:617601
56479	KCNQ5	HP:0001344	Absent speech	2/4	OMIM:617601
56479	KCNQ5	HP:0000006	Autosomal dominant inheritance	-	OMIM:617601
56479	KCNQ5	HP:0003593	Infantile onset	1/2	OMIM:617601
56479	KCNQ5	HP:0200134	Epileptic encephalopathy	1/4	OMIM:617601
56479	KCNQ5	HP:0002384	Focal impaired awareness seizure	1/4	OMIM:617601
56479	KCNQ5	HP:0002317	Unsteady gait	2/4	OMIM:617601
56479	KCNQ5	HP:0033454	Tube feeding	1/4	OMIM:617601
56479	KCNQ5	HP:0000750	Delayed speech and language development	4/4	OMIM:617601
56479	KCNQ5	HP:0011463	Childhood onset	1/2	OMIM:617601
56479	KCNQ5	HP:0032792	Tonic seizure	1/4	OMIM:617601
56479	KCNQ5	HP:0012469	Infantile spasms	1/4	OMIM:617601
56479	KCNQ5	HP:0012444	Brain atrophy	1/4	OMIM:617601
56521	DNAJC12	HP:0001290	Generalized hypotonia	-	OMIM:617384
56521	DNAJC12	HP:0001276	Hypertonia	-	OMIM:617384
56521	DNAJC12	HP:0001256	Intellectual disability, mild	3/6	OMIM:617384
56521	DNAJC12	HP:0001263	Global developmental delay	4/6	OMIM:617384
56521	DNAJC12	HP:0002509	Limb hypertonia	1/6	OMIM:617384
56521	DNAJC12	HP:0001332	Dystonia	4/6	OMIM:617384
56521	DNAJC12	HP:0000007	Autosomal recessive inheritance	-	OMIM:617384
56521	DNAJC12	HP:0001300	Parkinsonism	1/6	OMIM:617384
56521	DNAJC12	HP:0008936	Axial hypotonia	1/6	OMIM:617384
56521	DNAJC12	HP:0002067	Bradykinesia	-	OMIM:617384
56521	DNAJC12	HP:0002136	Broad-based gait	-	OMIM:617384
56521	DNAJC12	HP:0010553	Oculogyric crisis	1/6	OMIM:617384
56521	DNAJC12	HP:0007018	Attention deficit hyperactivity disorder	1/5	OMIM:617384
56521	DNAJC12	HP:0000639	Nystagmus	1/6	OMIM:617384
56521	DNAJC12	HP:0000750	Delayed speech and language development	2/6	OMIM:617384
56603	CYP26B1	HP:0001166	Arachnodactyly	-	OMIM:614416
56603	CYP26B1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
56603	CYP26B1	HP:0001293	Cranial nerve compression	-	OMIM:131300
56603	CYP26B1	HP:0001252	Hypotonia	2/7	OMIM:615777
56603	CYP26B1	HP:0001249	Intellectual disability	5/7	OMIM:615777
56603	CYP26B1	HP:0001263	Global developmental delay	-	OMIM:615777
56603	CYP26B1	HP:0002515	Waddling gait	54/102	OMIM:131300
56603	CYP26B1	HP:0001382	Joint hypermobility	-	OMIM:615777
56603	CYP26B1	HP:0001363	Craniosynostosis	-	OMIM:614416
56603	CYP26B1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
56603	CYP26B1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
56603	CYP26B1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
56603	CYP26B1	HP:0001324	Muscle weakness	40/96	OMIM:131300
56603	CYP26B1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
56603	CYP26B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614416
56603	CYP26B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
56603	CYP26B1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
56603	CYP26B1	HP:0002650	Scoliosis	12/14	OMIM:131300
56603	CYP26B1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
56603	CYP26B1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
56603	CYP26B1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
56603	CYP26B1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
56603	CYP26B1	HP:0012165	Oligodactyly	-	OMIM:614416
56603	CYP26B1	HP:0000175	Cleft palate	2/7	OMIM:615777
56603	CYP26B1	HP:0002085	Occipital encephalocele	-	OMIM:614416
56603	CYP26B1	HP:0003388	Easy fatigability	36/76	OMIM:131300
56603	CYP26B1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
56603	CYP26B1	HP:0003510	Severe short stature	7/7	OMIM:615777
56603	CYP26B1	HP:0002315	Headache	-	OMIM:131300
56603	CYP26B1	HP:0004976	Knee dislocation	6/7	OMIM:615777
56603	CYP26B1	HP:0009803	Short phalanx of finger	-	OMIM:615777
56603	CYP26B1	HP:0009763	Limb pain	63/92	OMIM:131300
56603	CYP26B1	HP:0003621	Juvenile onset	-	OMIM:131300
56603	CYP26B1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
56603	CYP26B1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
56603	CYP26B1	HP:6001056	Out-toeing	-	OMIM:131300
56603	CYP26B1	HP:0000651	Diplopia	-	OMIM:131300
56603	CYP26B1	HP:0001956	Truncal obesity	2/7	OMIM:615777
56603	CYP26B1	HP:0001903	Anemia	HP:0040283	OMIM:131300
56603	CYP26B1	HP:0010049	Short metacarpal	-	OMIM:615777
56603	CYP26B1	HP:0000678	Dental crowding	-	OMIM:615777
56603	CYP26B1	HP:0000670	Carious teeth	-	OMIM:131300
56603	CYP26B1	HP:0011304	Broad thumb	2/7	OMIM:615777
56603	CYP26B1	HP:0000668	Hypodontia	-	OMIM:615777
56603	CYP26B1	HP:0000664	Synophrys	-	OMIM:615777
56603	CYP26B1	HP:0030674	Antenatal onset	-	OMIM:614416
56603	CYP26B1	HP:0004396	Poor appetite	-	OMIM:131300
56603	CYP26B1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
56603	CYP26B1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
56603	CYP26B1	HP:0003041	Humeroradial synostosis	-	OMIM:614416
56603	CYP26B1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
56603	CYP26B1	HP:0003026	Short long bone	7/7	OMIM:615777
56603	CYP26B1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
56603	CYP26B1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
56603	CYP26B1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
56603	CYP26B1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
56603	CYP26B1	HP:0000750	Delayed speech and language development	-	OMIM:615777
56603	CYP26B1	HP:0011461	Fetal onset	7/7	OMIM:615777
56603	CYP26B1	HP:0000774	Narrow chest	2/7	OMIM:615777
56603	CYP26B1	HP:0000926	Platyspondyly	1/7	OMIM:615777
56603	CYP26B1	HP:0003180	Flat acetabular roof	-	OMIM:615777
56603	CYP26B1	HP:0004482	Relative macrocephaly	-	OMIM:615777
56603	CYP26B1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
56603	CYP26B1	HP:0000823	Delayed puberty	-	OMIM:131300
56603	CYP26B1	HP:0000894	Short clavicles	-	OMIM:615777
56603	CYP26B1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
56603	CYP26B1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
56603	CYP26B1	HP:0000286	Epicanthus	1/7	OMIM:615777
56603	CYP26B1	HP:0000280	Coarse facial features	2/7	OMIM:615777
56603	CYP26B1	HP:0002827	Hip dislocation	3/7	OMIM:615777
56603	CYP26B1	HP:0000252	Microcephaly	-	OMIM:615777
56603	CYP26B1	HP:0000248	Brachycephaly	-	OMIM:614416
56603	CYP26B1	HP:0002857	Genu valgum	-	OMIM:131300
56603	CYP26B1	HP:0001533	Slender build	-	OMIM:131300
56603	CYP26B1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
56603	CYP26B1	HP:0007807	Optic nerve compression	-	OMIM:131300
56603	CYP26B1	HP:0012368	Flat face	7/7	OMIM:615777
56603	CYP26B1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
56603	CYP26B1	HP:0000365	Hearing impairment	10/67	OMIM:131300
56603	CYP26B1	HP:0000343	Long philtrum	1/7	OMIM:615777
56603	CYP26B1	HP:0011001	Increased bone mineral density	-	OMIM:131300
56603	CYP26B1	HP:0000311	Round face	2/7	OMIM:615777
56603	CYP26B1	HP:0002970	Genu varum	-	OMIM:615777
56603	CYP26B1	HP:0000303	Mandibular prognathia	-	OMIM:131300
56603	CYP26B1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
56603	CYP26B1	HP:0000470	Short neck	1/7	OMIM:615777
56603	CYP26B1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
56603	CYP26B1	HP:0001763	Pes planus	1/7	OMIM:615777
56603	CYP26B1	HP:0001840	Metatarsus adductus	-	OMIM:615777
56603	CYP26B1	HP:0000520	Proptosis	2/4	OMIM:131300
56603	CYP26B1	HP:0000520	Proptosis	7/7	OMIM:615777
56603	CYP26B1	HP:0000592	Blue sclerae	2/7	OMIM:615777
56603	CYP26B1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
56603	CYP26B1	HP:0012514	Lower limb pain	4/4	OMIM:131300
56606	SLC2A9	HP:0008651	Uric acid urolithiasis independent of gout	HP:0040282	ORPHA:94088
56606	SLC2A9	HP:0000091	Abnormal renal tubule morphology	HP:0040282	ORPHA:94088
56606	SLC2A9	HP:0000007	Autosomal recessive inheritance	-	OMIM:612076
56606	SLC2A9	HP:0000006	Autosomal dominant inheritance	-	OMIM:612076
56606	SLC2A9	HP:0030973	Postexertional symptom exacerbation	HP:0040281	ORPHA:94088
56606	SLC2A9	HP:0002018	Nausea	HP:0040283	ORPHA:94088
56606	SLC2A9	HP:0002013	Vomiting	HP:0040283	ORPHA:94088
56606	SLC2A9	HP:0002150	Hypercalciuria	HP:0040283	ORPHA:94088
56606	SLC2A9	HP:0003418	Back pain	HP:0040283	ORPHA:94088
56606	SLC2A9	HP:0003537	Hypouricemia	-	OMIM:612076
56606	SLC2A9	HP:0003537	Hypouricemia	HP:0040280	ORPHA:94088
56606	SLC2A9	HP:0012622	Chronic kidney disease	HP:0040283	ORPHA:94088
56606	SLC2A9	HP:0001919	Acute kidney injury	HP:0040282	ORPHA:94088
56606	SLC2A9	HP:0000790	Hematuria	HP:0040283	ORPHA:94088
56606	SLC2A9	HP:0000787	Nephrolithiasis	HP:0040283	OMIM:612076
56606	SLC2A9	HP:0003149	Hyperuricosuria	HP:0040280	ORPHA:94088
56606	SLC2A9	HP:0003138	Increased blood urea nitrogen	HP:0040283	ORPHA:94088
56606	SLC2A9	HP:0012213	Decreased glomerular filtration rate	HP:0040283	ORPHA:94088
56606	SLC2A9	HP:0012211	Abnormal renal physiology	HP:0040282	ORPHA:94088
56606	SLC2A9	HP:0012595	Mild proteinuria	HP:0040283	ORPHA:94088
56616	DIABLO	HP:0000006	Autosomal dominant inheritance	-	OMIM:614152
56616	DIABLO	HP:0003676	Progressive	-	OMIM:614152
56616	DIABLO	HP:0003621	Juvenile onset	-	OMIM:614152
56616	DIABLO	HP:0011462	Young adult onset	-	OMIM:614152
56616	DIABLO	HP:0000360	Tinnitus	12/16	OMIM:614152
56616	DIABLO	HP:0000407	Sensorineural hearing impairment	16/16	OMIM:614152
56623	INPP5E	HP:0001162	Postaxial hand polydactyly	-	OMIM:213300
56623	INPP5E	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
56623	INPP5E	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0100951	Enlarged fossa interpeduncularis	-	OMIM:213300
56623	INPP5E	HP:0002465	Poor speech	HP:0040282	ORPHA:75858
56623	INPP5E	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
56623	INPP5E	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:75858
56623	INPP5E	HP:0007271	Occipital myelomeningocele	HP:0040283	OMIM:213300
56623	INPP5E	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:75858
56623	INPP5E	HP:0002421	Poor head control	1/1	OMIM:213300
56623	INPP5E	HP:0002419	Molar tooth sign on MRI	7/7	OMIM:213300
56623	INPP5E	HP:0002419	Molar tooth sign on MRI	HP:0040281	ORPHA:220493
56623	INPP5E	HP:0001290	Generalized hypotonia	8/8	OMIM:213300
56623	INPP5E	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0001288	Gait disturbance	HP:0040282	ORPHA:220493
56623	INPP5E	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
56623	INPP5E	HP:0001288	Gait disturbance	HP:0040282	ORPHA:1454
56623	INPP5E	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:75858
56623	INPP5E	HP:0001250	Seizure	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0001250	Seizure	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0001250	Seizure	HP:0040283	ORPHA:475
56623	INPP5E	HP:0001252	Hypotonia	HP:0040281	ORPHA:220493
56623	INPP5E	HP:0001252	Hypotonia	-	OMIM:213300
56623	INPP5E	HP:0001252	Hypotonia	-	ORPHA:75858
56623	INPP5E	HP:0001252	Hypotonia	HP:0040281	ORPHA:1454
56623	INPP5E	HP:0001252	Hypotonia	0/14	OMIM:610156
56623	INPP5E	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
56623	INPP5E	HP:0001251	Ataxia	HP:0040281	ORPHA:220493
56623	INPP5E	HP:0001251	Ataxia	8/8	OMIM:213300
56623	INPP5E	HP:0001251	Ataxia	HP:0040281	ORPHA:1454
56623	INPP5E	HP:0001251	Ataxia	HP:0040281	ORPHA:475
56623	INPP5E	HP:0001249	Intellectual disability	HP:0040281	ORPHA:220493
56623	INPP5E	HP:0001249	Intellectual disability	6/6	OMIM:213300
56623	INPP5E	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
56623	INPP5E	HP:0001263	Global developmental delay	HP:0040281	ORPHA:220493
56623	INPP5E	HP:0001263	Global developmental delay	8/8	OMIM:213300
56623	INPP5E	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
56623	INPP5E	HP:0001257	Spasticity	0/14	OMIM:610156
56623	INPP5E	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
56623	INPP5E	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:1454
56623	INPP5E	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
56623	INPP5E	HP:0002553	Highly arched eyebrow	-	OMIM:213300
56623	INPP5E	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0002508	Brainstem dysplasia	-	OMIM:213300
56623	INPP5E	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0001395	Hepatic fibrosis	2/7	OMIM:213300
56623	INPP5E	HP:0001394	Cirrhosis	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:75858
56623	INPP5E	HP:0025336	Delayed ability to sit	1/1	OMIM:213300
56623	INPP5E	HP:0000054	Micropenis	HP:0040281	ORPHA:75858
56623	INPP5E	HP:0000054	Micropenis	-	OMIM:610156
56623	INPP5E	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1454
56623	INPP5E	HP:0001357	Plagiocephaly	1/7	OMIM:213300
56623	INPP5E	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
56623	INPP5E	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:1454
56623	INPP5E	HP:0000007	Autosomal recessive inheritance	-	OMIM:213300
56623	INPP5E	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
56623	INPP5E	HP:0000007	Autosomal recessive inheritance	-	OMIM:610156
56623	INPP5E	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0001337	Tremor	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0001337	Tremor	HP:0040283	ORPHA:475
56623	INPP5E	HP:0001337	Tremor	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
56623	INPP5E	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:213300
56623	INPP5E	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:220493
56623	INPP5E	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:1454
56623	INPP5E	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
56623	INPP5E	HP:0002650	Scoliosis	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0002650	Scoliosis	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
56623	INPP5E	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:1454
56623	INPP5E	HP:0008915	Childhood-onset truncal obesity	14/14	OMIM:610156
56623	INPP5E	HP:0000158	Macroglossia	-	OMIM:213300
56623	INPP5E	HP:0000175	Cleft palate	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
56623	INPP5E	HP:0007675	Progressive night blindness	HP:0040282	ORPHA:75858
56623	INPP5E	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
56623	INPP5E	HP:0007663	Reduced visual acuity	-	OMIM:610156
56623	INPP5E	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
56623	INPP5E	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:1454
56623	INPP5E	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:220493
56623	INPP5E	HP:0002790	Neonatal breathing dysregulation	-	OMIM:213300
56623	INPP5E	HP:0000112	Nephropathy	1/1	OMIM:213300
56623	INPP5E	HP:0000112	Nephropathy	HP:0040282	ORPHA:1454
56623	INPP5E	HP:0000107	Renal cyst	HP:0040283	OMIM:213300
56623	INPP5E	HP:0001409	Portal hypertension	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
56623	INPP5E	HP:0002085	Occipital encephalocele	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
56623	INPP5E	HP:0002084	Encephalocele	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0003468	Abnormal vertebral morphology	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
56623	INPP5E	HP:0002104	Apnea	HP:0040281	ORPHA:220493
56623	INPP5E	HP:0002104	Apnea	HP:0040281	ORPHA:1454
56623	INPP5E	HP:0002104	Apnea	HP:0040281	ORPHA:475
56623	INPP5E	HP:0011933	Elongated superior cerebellar peduncle	-	OMIM:213300
56623	INPP5E	HP:0002195	Dysgenesis of the cerebellar vermis	-	OMIM:213300
56623	INPP5E	HP:0003593	Infantile onset	-	OMIM:610156
56623	INPP5E	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
56623	INPP5E	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:1454
56623	INPP5E	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
56623	INPP5E	HP:0200096	Triangular-shaped open mouth	-	OMIM:213300
56623	INPP5E	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:220493
56623	INPP5E	HP:0002365	Hypoplasia of the brainstem	-	OMIM:213300
56623	INPP5E	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:75858
56623	INPP5E	HP:0002342	Intellectual disability, moderate	14/14	OMIM:610156
56623	INPP5E	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:1454
56623	INPP5E	HP:0002335	Agenesis of cerebellar vermis	-	OMIM:213300
56623	INPP5E	HP:0010828	Hemifacial spasm	-	OMIM:213300
56623	INPP5E	HP:0010808	Protruding tongue	-	OMIM:213300
56623	INPP5E	HP:0100626	Chronic hepatic failure	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0003621	Juvenile onset	8/19	OMIM:180100
56623	INPP5E	HP:0000639	Nystagmus	HP:0040282	ORPHA:220493
56623	INPP5E	HP:0000639	Nystagmus	-	ORPHA:75858
56623	INPP5E	HP:0000639	Nystagmus	HP:0040282	ORPHA:1454
56623	INPP5E	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
56623	INPP5E	HP:0000617	Abnormality of ocular smooth pursuit	-	OMIM:213300
56623	INPP5E	HP:0000613	Photophobia	-	ORPHA:75858
56623	INPP5E	HP:0000612	Iris coloboma	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0000612	Iris coloboma	HP:0040282	ORPHA:1454
56623	INPP5E	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
56623	INPP5E	HP:0001956	Truncal obesity	-	OMIM:610156
56623	INPP5E	HP:0001956	Truncal obesity	HP:0040281	ORPHA:75858
56623	INPP5E	HP:0000662	Nyctalopia	26/28	OMIM:180100
56623	INPP5E	HP:0000662	Nyctalopia	-	OMIM:610156
56623	INPP5E	HP:0000657	Oculomotor apraxia	7/7	OMIM:213300
56623	INPP5E	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:220493
56623	INPP5E	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:1454
56623	INPP5E	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
56623	INPP5E	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
56623	INPP5E	HP:0031936	Delayed ability to walk	1/1	OMIM:213300
56623	INPP5E	HP:0000752	Hyperactivity	HP:0040282	ORPHA:75858
56623	INPP5E	HP:0000752	Hyperactivity	-	OMIM:213300
56623	INPP5E	HP:0000750	Delayed speech and language development	1/1	OMIM:213300
56623	INPP5E	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:75858
56623	INPP5E	HP:0000750	Delayed speech and language development	14/14	OMIM:610156
56623	INPP5E	HP:0000742	Self-mutilation	-	OMIM:213300
56623	INPP5E	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:75858
56623	INPP5E	HP:0000718	Aggressive behavior	-	OMIM:213300
56623	INPP5E	HP:0011463	Childhood onset	3/19	OMIM:180100
56623	INPP5E	HP:0011462	Young adult onset	8/19	OMIM:180100
56623	INPP5E	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
56623	INPP5E	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:1454
56623	INPP5E	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:220493
56623	INPP5E	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
56623	INPP5E	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0000286	Epicanthus	-	OMIM:213300
56623	INPP5E	HP:0000256	Macrocephaly	-	OMIM:213300
56623	INPP5E	HP:0000256	Macrocephaly	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0000276	Long face	HP:0040282	ORPHA:220493
56623	INPP5E	HP:0000276	Long face	HP:0040282	ORPHA:475
56623	INPP5E	HP:0000276	Long face	HP:0040282	ORPHA:1454
56623	INPP5E	HP:0007772	Impaired smooth pursuit	-	OMIM:213300
56623	INPP5E	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
56623	INPP5E	HP:0030084	Clinodactyly	1/1	OMIM:213300
56623	INPP5E	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
56623	INPP5E	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0000252	Microcephaly	1/7	OMIM:213300
56623	INPP5E	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
56623	INPP5E	HP:0002876	Episodic tachypnea	-	OMIM:213300
56623	INPP5E	HP:0002871	Central apnea	-	OMIM:213300
56623	INPP5E	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
56623	INPP5E	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
56623	INPP5E	HP:0005248	Intrahepatic biliary atresia	HP:0040281	ORPHA:1454
56623	INPP5E	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:1454
56623	INPP5E	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
56623	INPP5E	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0000369	Low-set ears	1/1	OMIM:213300
56623	INPP5E	HP:0000369	Low-set ears	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
56623	INPP5E	HP:0001651	Dextrocardia	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0007973	Retinal dysplasia	HP:0040283	OMIM:213300
56623	INPP5E	HP:0000486	Strabismus	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0000486	Strabismus	1/1	OMIM:213300
56623	INPP5E	HP:0000486	Strabismus	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0000486	Strabismus	HP:0040283	ORPHA:475
56623	INPP5E	HP:0000480	Retinal coloboma	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0000463	Anteverted nares	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
56623	INPP5E	HP:0000463	Anteverted nares	-	OMIM:213300
56623	INPP5E	HP:0000463	Anteverted nares	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
56623	INPP5E	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0000518	Cataract	HP:0040282	ORPHA:75858
56623	INPP5E	HP:0000518	Cataract	-	OMIM:610156
56623	INPP5E	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
56623	INPP5E	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
56623	INPP5E	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0000508	Ptosis	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0000508	Ptosis	1/1	OMIM:213300
56623	INPP5E	HP:0000508	Ptosis	HP:0040283	ORPHA:1454
56623	INPP5E	HP:0000508	Ptosis	HP:0040283	ORPHA:475
56623	INPP5E	HP:0000505	Visual impairment	HP:0040281	ORPHA:75858
56623	INPP5E	HP:0000505	Visual impairment	HP:0040282	ORPHA:1454
56623	INPP5E	HP:0001830	Postaxial foot polydactyly	HP:0040283	OMIM:213300
56623	INPP5E	HP:0000575	Scotoma	5/18	OMIM:180100
56623	INPP5E	HP:0000588	Optic disc coloboma	-	OMIM:213300
56623	INPP5E	HP:0000588	Optic disc coloboma	HP:0040282	ORPHA:1454
56623	INPP5E	HP:0011220	Prominent forehead	-	OMIM:213300
56623	INPP5E	HP:0000556	Retinal dystrophy	-	OMIM:213300
56623	INPP5E	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:220493
56623	INPP5E	HP:0000556	Retinal dystrophy	HP:0040282	ORPHA:75858
56623	INPP5E	HP:0000556	Retinal dystrophy	-	OMIM:610156
56623	INPP5E	HP:0000572	Visual loss	HP:0040283	ORPHA:220493
56623	INPP5E	HP:0000570	Abnormal saccadic eye movements	-	OMIM:213300
56623	INPP5E	HP:0000567	Chorioretinal coloboma	-	OMIM:213300
56623	INPP5E	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:1454
56623	INPP5E	HP:0000543	Optic disc pallor	1/7	OMIM:213300
56623	INPP5E	HP:0000543	Optic disc pallor	1/1	OMIM:180100
56623	INPP5E	HP:0000545	Myopia	-	OMIM:180100
56652	TWNK	HP:0002495	Impaired vibratory sensation	HP:0040282	ORPHA:70595
56652	TWNK	HP:0002460	Distal muscle weakness	1/7	OMIM:607459
56652	TWNK	HP:0007302	Bipolar affective disorder	HP:0040284	ORPHA:254892
56652	TWNK	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040282	ORPHA:70595
56652	TWNK	HP:0007240	Progressive gait ataxia	-	OMIM:607459
56652	TWNK	HP:0010871	Sensory ataxia	1/7	OMIM:607459
56652	TWNK	HP:0010871	Sensory ataxia	-	OMIM:609286
56652	TWNK	HP:0003731	Quadriceps muscle weakness	HP:0040282	ORPHA:254892
56652	TWNK	HP:0003737	Mitochondrial myopathy	HP:0040282	ORPHA:254892
56652	TWNK	HP:0002403	Positive Romberg sign	HP:0040282	ORPHA:70595
56652	TWNK	HP:0002403	Positive Romberg sign	2/7	OMIM:607459
56652	TWNK	HP:0002403	Positive Romberg sign	-	OMIM:616138
56652	TWNK	HP:0003701	Proximal muscle weakness	-	OMIM:607459
56652	TWNK	HP:0003701	Proximal muscle weakness	-	OMIM:609286
56652	TWNK	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:70595
56652	TWNK	HP:0003700	Generalized amyotrophy	2/7	OMIM:607459
56652	TWNK	HP:0003713	Muscle fiber necrosis	-	OMIM:607459
56652	TWNK	HP:0001298	Encephalopathy	2/2	OMIM:271245
56652	TWNK	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:254892
56652	TWNK	HP:0001276	Hypertonia	HP:0040284	ORPHA:254892
56652	TWNK	HP:0001272	Cerebellar atrophy	-	OMIM:271245
56652	TWNK	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:254892
56652	TWNK	HP:0001288	Gait disturbance	HP:0040283	ORPHA:254892
56652	TWNK	HP:0001288	Gait disturbance	-	OMIM:609286
56652	TWNK	HP:0001284	Areflexia	2/2	OMIM:271245
56652	TWNK	HP:0001284	Areflexia	5/7	OMIM:607459
56652	TWNK	HP:0001284	Areflexia	-	OMIM:609286
56652	TWNK	HP:0001284	Areflexia	HP:0040283	ORPHA:70595
56652	TWNK	HP:0001254	Lethargy	HP:0040283	ORPHA:254892
56652	TWNK	HP:0001250	Seizure	HP:0040283	OMIM:616138
56652	TWNK	HP:0001250	Seizure	HP:0040283	ORPHA:70595
56652	TWNK	HP:0001250	Seizure	HP:0040283	OMIM:609286
56652	TWNK	HP:0001250	Seizure	HP:0040284	ORPHA:254892
56652	TWNK	HP:0001250	Seizure	-	OMIM:607459
56652	TWNK	HP:0001252	Hypotonia	2/2	OMIM:271245
56652	TWNK	HP:0001251	Ataxia	-	OMIM:616138
56652	TWNK	HP:0001251	Ataxia	1/2	OMIM:271245
56652	TWNK	HP:0001251	Ataxia	HP:0040283	ORPHA:254892
56652	TWNK	HP:0001251	Ataxia	4/7	OMIM:607459
56652	TWNK	HP:0001251	Ataxia	HP:0040281	ORPHA:1186
56652	TWNK	HP:0001249	Intellectual disability	-	OMIM:271245
56652	TWNK	HP:0002578	Gastroparesis	HP:0040283	ORPHA:254892
56652	TWNK	HP:0002578	Gastroparesis	HP:0040283	ORPHA:70595
56652	TWNK	HP:0002578	Gastroparesis	-	OMIM:607459
56652	TWNK	HP:0001265	Hyporeflexia	-	OMIM:616138
56652	TWNK	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:254892
56652	TWNK	HP:0001265	Hyporeflexia	-	OMIM:609286
56652	TWNK	HP:0001265	Hyporeflexia	-	OMIM:607459
56652	TWNK	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:70595
56652	TWNK	HP:0001260	Dysarthria	HP:0040283	ORPHA:254892
56652	TWNK	HP:0001260	Dysarthria	HP:0040283	OMIM:609286
56652	TWNK	HP:0001260	Dysarthria	5/8	OMIM:607459
56652	TWNK	HP:0001260	Dysarthria	HP:0040282	ORPHA:70595
56652	TWNK	HP:0001263	Global developmental delay	20/20	OMIM:609286
56652	TWNK	HP:0001262	Excessive daytime somnolence	-	OMIM:271245
56652	TWNK	HP:0033685	Fiber type grouping	1/3	OMIM:607459
56652	TWNK	HP:0033685	Fiber type grouping	1/2	OMIM:271245
56652	TWNK	HP:0007366	Atrophy/Degeneration affecting the brainstem	-	OMIM:271245
56652	TWNK	HP:0007344	Atrophy/Degeneration involving the spinal cord	-	OMIM:607459
56652	TWNK	HP:0007344	Atrophy/Degeneration involving the spinal cord	HP:0040282	ORPHA:70595
56652	TWNK	HP:0002505	Loss of ambulation	2/2	OMIM:271245
56652	TWNK	HP:0001392	Abnormality of the liver	HP:0040284	ORPHA:254892
56652	TWNK	HP:0025331	Upgaze palsy	HP:0040282	ORPHA:70595
56652	TWNK	HP:0001349	Facial diplegia	HP:0040283	ORPHA:254892
56652	TWNK	HP:0000017	Nocturia	HP:0040284	ORPHA:254892
56652	TWNK	HP:0001328	Specific learning disability	-	OMIM:271245
56652	TWNK	HP:0001324	Muscle weakness	-	OMIM:271245
56652	TWNK	HP:0001324	Muscle weakness	7/7	OMIM:607459
56652	TWNK	HP:0000007	Autosomal recessive inheritance	-	OMIM:271245
56652	TWNK	HP:0000007	Autosomal recessive inheritance	-	OMIM:607459
56652	TWNK	HP:0000007	Autosomal recessive inheritance	-	OMIM:616138
56652	TWNK	HP:0001337	Tremor	HP:0040283	ORPHA:254892
56652	TWNK	HP:0000006	Autosomal dominant inheritance	-	OMIM:609286
56652	TWNK	HP:0001336	Myoclonus	-	OMIM:607459
56652	TWNK	HP:0001336	Myoclonus	HP:0040282	ORPHA:70595
56652	TWNK	HP:0033748	Hypoesthesia	1/7	OMIM:607459
56652	TWNK	HP:0001310	Dysmetria	1/7	OMIM:607459
56652	TWNK	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:1186
56652	TWNK	HP:0001300	Parkinsonism	HP:0040284	OMIM:609286
56652	TWNK	HP:0000135	Hypogonadism	HP:0040283	OMIM:609286
56652	TWNK	HP:0012103	Abnormality of the mitochondrion	HP:0040282	ORPHA:254892
56652	TWNK	HP:0000133	Gonadal dysgenesis	-	OMIM:616138
56652	TWNK	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:254892
56652	TWNK	HP:0002019	Constipation	HP:0040283	ORPHA:254892
56652	TWNK	HP:0003326	Myalgia	HP:0040283	ORPHA:254892
56652	TWNK	HP:0003326	Myalgia	-	OMIM:609286
56652	TWNK	HP:0002015	Dysphagia	1/2	OMIM:271245
56652	TWNK	HP:0002015	Dysphagia	HP:0040283	ORPHA:254892
56652	TWNK	HP:0002015	Dysphagia	-	OMIM:609286
56652	TWNK	HP:0002015	Dysphagia	3/7	OMIM:607459
56652	TWNK	HP:0002013	Vomiting	2/2	OMIM:271245
56652	TWNK	HP:0003323	Progressive muscle weakness	-	OMIM:609286
56652	TWNK	HP:0003324	Generalized muscle weakness	-	OMIM:607459
56652	TWNK	HP:0100543	Cognitive impairment	-	OMIM:607459
56652	TWNK	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:254892
56652	TWNK	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:70595
56652	TWNK	HP:0002093	Respiratory insufficiency	2/7	OMIM:607459
56652	TWNK	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:254892
56652	TWNK	HP:0002067	Bradykinesia	HP:0040282	ORPHA:254892
56652	TWNK	HP:0002066	Gait ataxia	1/1	OMIM:607459
56652	TWNK	HP:0002066	Gait ataxia	HP:0040283	ORPHA:254892
56652	TWNK	HP:0002066	Gait ataxia	HP:0040282	ORPHA:70595
56652	TWNK	HP:0003394	Muscle spasm	HP:0040284	ORPHA:254892
56652	TWNK	HP:0002063	Rigidity	HP:0040283	ORPHA:254892
56652	TWNK	HP:0003390	Sensory axonal neuropathy	-	OMIM:616138
56652	TWNK	HP:0003390	Sensory axonal neuropathy	2/2	OMIM:271245
56652	TWNK	HP:0003390	Sensory axonal neuropathy	HP:0040283	OMIM:609286
56652	TWNK	HP:0003390	Sensory axonal neuropathy	1/7	OMIM:607459
56652	TWNK	HP:0002076	Migraine	HP:0040284	ORPHA:254892
56652	TWNK	HP:0002076	Migraine	HP:0040283	ORPHA:70595
56652	TWNK	HP:0002076	Migraine	-	OMIM:271245
56652	TWNK	HP:0002076	Migraine	-	OMIM:607459
56652	TWNK	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:254892
56652	TWNK	HP:0002059	Cerebral atrophy	-	OMIM:609286
56652	TWNK	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	2/2	OMIM:271245
56652	TWNK	HP:0003388	Easy fatigability	HP:0040283	ORPHA:254892
56652	TWNK	HP:0008180	Mildly elevated creatine kinase	1/7	OMIM:607459
56652	TWNK	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:254892
56652	TWNK	HP:0003477	Peripheral axonal neuropathy	1/7	OMIM:607459
56652	TWNK	HP:0003487	Babinski sign	1/2	OMIM:271245
56652	TWNK	HP:0003487	Babinski sign	1/7	OMIM:607459
56652	TWNK	HP:0002151	Increased circulating lactate concentration	-	OMIM:616138
56652	TWNK	HP:0002151	Increased circulating lactate concentration	-	OMIM:607459
56652	TWNK	HP:0002151	Increased circulating lactate concentration	HP:0040283	ORPHA:254892
56652	TWNK	HP:0002151	Increased circulating lactate concentration	-	OMIM:609286
56652	TWNK	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:70595
56652	TWNK	HP:0002120	Cerebral cortical atrophy	-	OMIM:271245
56652	TWNK	HP:0002136	Broad-based gait	-	OMIM:607459
56652	TWNK	HP:0002133	Status epilepticus	2/2	OMIM:271245
56652	TWNK	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:254892
56652	TWNK	HP:0003458	EMG: myopathic abnormalities	-	OMIM:609286
56652	TWNK	HP:0003434	Sensory ataxic neuropathy	-	OMIM:607459
56652	TWNK	HP:0003434	Sensory ataxic neuropathy	HP:0040282	ORPHA:70595
56652	TWNK	HP:0003438	Absent Achilles reflex	HP:0040284	ORPHA:254892
56652	TWNK	HP:0003438	Absent Achilles reflex	1/7	OMIM:607459
56652	TWNK	HP:0010546	Muscle fibrillation	2/7	OMIM:607459
56652	TWNK	HP:0008209	Premature ovarian insufficiency	HP:0040283	OMIM:609286
56652	TWNK	HP:0008278	Cerebellar cortical atrophy	1/2	OMIM:271245
56652	TWNK	HP:0003593	Infantile onset	2/2	OMIM:271245
56652	TWNK	HP:0002270	Abnormality of the autonomic nervous system	HP:0040281	ORPHA:1186
56652	TWNK	HP:0100704	Cerebral visual impairment	HP:0040284	ORPHA:254892
56652	TWNK	HP:0003581	Adult onset	6/7	OMIM:607459
56652	TWNK	HP:0003581	Adult onset	-	OMIM:609286
56652	TWNK	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:254892
56652	TWNK	HP:0003551	Difficulty climbing stairs	1/7	OMIM:607459
56652	TWNK	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:254892
56652	TWNK	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	-	OMIM:607459
56652	TWNK	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	-	OMIM:609286
56652	TWNK	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:254892
56652	TWNK	HP:0003546	Exercise intolerance	-	OMIM:609286
56652	TWNK	HP:0003546	Exercise intolerance	1/7	OMIM:607459
56652	TWNK	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:70595
56652	TWNK	HP:0003557	Increased variability in muscle fiber diameter	3/3	OMIM:607459
56652	TWNK	HP:0003542	Increased circulating pyruvate concentration	-	OMIM:616138
56652	TWNK	HP:0200134	Epileptic encephalopathy	-	OMIM:271245
56652	TWNK	HP:0007042	Focal white matter lesions	HP:0040283	ORPHA:254892
56652	TWNK	HP:0010628	Facial palsy	HP:0040282	ORPHA:254892
56652	TWNK	HP:0002396	Cogwheel rigidity	HP:0040283	ORPHA:254892
56652	TWNK	HP:0003693	Distal amyotrophy	1/2	OMIM:271245
56652	TWNK	HP:0003691	Scapular winging	1/7	OMIM:607459
56652	TWNK	HP:0003690	Limb muscle weakness	HP:0040282	ORPHA:254892
56652	TWNK	HP:0003690	Limb muscle weakness	-	OMIM:609286
56652	TWNK	HP:0002359	Frequent falls	HP:0040283	ORPHA:254892
56652	TWNK	HP:0002359	Frequent falls	2/7	OMIM:607459
56652	TWNK	HP:0003688	Cytochrome C oxidase-negative muscle fibers	HP:0040282	ORPHA:254892
56652	TWNK	HP:0003688	Cytochrome C oxidase-negative muscle fibers	-	OMIM:609286
56652	TWNK	HP:0003688	Cytochrome C oxidase-negative muscle fibers	3/7	OMIM:607459
56652	TWNK	HP:0003689	Multiple mitochondrial DNA deletions	2/2	OMIM:607459
56652	TWNK	HP:0003689	Multiple mitochondrial DNA deletions	-	OMIM:609286
56652	TWNK	HP:0002375	Hypokinesia	HP:0040283	ORPHA:254892
56652	TWNK	HP:0003676	Progressive	-	OMIM:271245
56652	TWNK	HP:0003676	Progressive	-	OMIM:609286
56652	TWNK	HP:0003687	Centrally nucleated skeletal muscle fibers	1/7	OMIM:607459
56652	TWNK	HP:0002354	Memory impairment	HP:0040283	ORPHA:70595
56652	TWNK	HP:0002322	Resting tremor	HP:0040282	ORPHA:254892
56652	TWNK	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:254892
56652	TWNK	HP:0002312	Clumsiness	-	OMIM:271245
56652	TWNK	HP:0002305	Athetosis	2/2	OMIM:271245
56652	TWNK	HP:0003621	Juvenile onset	1/7	OMIM:607459
56652	TWNK	HP:0006858	Impaired distal proprioception	-	OMIM:607459
56652	TWNK	HP:0006858	Impaired distal proprioception	HP:0040282	ORPHA:70595
56652	TWNK	HP:0006886	Impaired distal vibration sensation	-	OMIM:607459
56652	TWNK	HP:0000639	Nystagmus	-	OMIM:616138
56652	TWNK	HP:0000639	Nystagmus	1/2	OMIM:271245
56652	TWNK	HP:0000639	Nystagmus	-	OMIM:607459
56652	TWNK	HP:0000639	Nystagmus	HP:0040282	ORPHA:70595
56652	TWNK	HP:0001962	Palpitations	HP:0040284	ORPHA:254892
56652	TWNK	HP:0000648	Optic atrophy	-	OMIM:271245
56652	TWNK	HP:0000648	Optic atrophy	HP:0040281	ORPHA:1186
56652	TWNK	HP:0001946	Ketosis	HP:0040284	ORPHA:254892
56652	TWNK	HP:0001952	Glucose intolerance	HP:0040283	ORPHA:254892
56652	TWNK	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:254892
56652	TWNK	HP:0000602	Ophthalmoplegia	HP:0040281	ORPHA:1186
56652	TWNK	HP:0000602	Ophthalmoplegia	-	OMIM:616138
56652	TWNK	HP:0000602	Ophthalmoplegia	2/2	OMIM:271245
56652	TWNK	HP:0012696	Abnormal thalamic MRI signal intensity	HP:0040282	ORPHA:70595
56652	TWNK	HP:0012664	Reduced left ventricular ejection fraction	HP:0040283	ORPHA:254892
56652	TWNK	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/2	OMIM:271245
56652	TWNK	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/2	OMIM:271245
56652	TWNK	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:254892
56652	TWNK	HP:0004305	Involuntary movements	2/2	OMIM:271245
56652	TWNK	HP:0031987	Diminished ability to concentrate	-	OMIM:607459
56652	TWNK	HP:0006937	Impaired distal tactile sensation	-	OMIM:607459
56652	TWNK	HP:0004389	Intestinal pseudo-obstruction	-	OMIM:607459
56652	TWNK	HP:0004389	Intestinal pseudo-obstruction	HP:0040283	ORPHA:70595
56652	TWNK	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:1186
56652	TWNK	HP:0000739	Anxiety	HP:0040283	ORPHA:254892
56652	TWNK	HP:0000716	Depression	1/7	OMIM:607459
56652	TWNK	HP:0000716	Depression	HP:0040283	ORPHA:254892
56652	TWNK	HP:0000716	Depression	-	OMIM:609286
56652	TWNK	HP:0000716	Depression	HP:0040283	ORPHA:70595
56652	TWNK	HP:0000712	Emotional lability	1/7	OMIM:607459
56652	TWNK	HP:0000726	Dementia	1/7	OMIM:607459
56652	TWNK	HP:0000726	Dementia	-	OMIM:609286
56652	TWNK	HP:0000709	Psychosis	-	OMIM:271245
56652	TWNK	HP:0000786	Primary amenorrhea	-	OMIM:616138
56652	TWNK	HP:0003198	Myopathy	-	OMIM:607459
56652	TWNK	HP:0003198	Myopathy	HP:0040282	ORPHA:254892
56652	TWNK	HP:0012847	Epilepsia partialis continua	2/2	OMIM:271245
56652	TWNK	HP:0000853	Goiter	HP:0040284	ORPHA:254892
56652	TWNK	HP:0000836	Hyperthyroidism	HP:0040284	ORPHA:254892
56652	TWNK	HP:0000819	Diabetes mellitus	HP:0040284	ORPHA:254892
56652	TWNK	HP:0000819	Diabetes mellitus	HP:0040283	OMIM:609286
56652	TWNK	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:616138
56652	TWNK	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:271245
56652	TWNK	HP:0000817	Reduced eye contact	1/2	OMIM:271245
56652	TWNK	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:254892
56652	TWNK	HP:0000820	Abnormality of the thyroid gland	HP:0040283	OMIM:609286
56652	TWNK	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:616138
56652	TWNK	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:254892
56652	TWNK	HP:0003202	Skeletal muscle atrophy	2/7	OMIM:607459
56652	TWNK	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:254892
56652	TWNK	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:70595
56652	TWNK	HP:0003200	Ragged-red muscle fibers	-	OMIM:609286
56652	TWNK	HP:0003200	Ragged-red muscle fibers	2/2	OMIM:607459
56652	TWNK	HP:0000969	Edema	HP:0040284	ORPHA:254892
56652	TWNK	HP:0000939	Osteoporosis	HP:0040284	ORPHA:254892
56652	TWNK	HP:0011675	Arrhythmia	HP:0040283	ORPHA:254892
56652	TWNK	HP:0011675	Arrhythmia	HP:0040283	OMIM:609286
56652	TWNK	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:254892
56652	TWNK	HP:0000218	High palate	HP:0040283	OMIM:616138
56652	TWNK	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:254892
56652	TWNK	HP:0001508	Failure to thrive	HP:0040283	ORPHA:254892
56652	TWNK	HP:0007814	Retinal pigment epithelial mottling	1/7	OMIM:607459
56652	TWNK	HP:0012378	Fatigue	HP:0040282	ORPHA:254892
56652	TWNK	HP:0012378	Fatigue	-	OMIM:609286
56652	TWNK	HP:0001618	Dysphonia	-	OMIM:609286
56652	TWNK	HP:0001611	Hypernasal speech	2/7	OMIM:607459
56652	TWNK	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040284	ORPHA:254892
56652	TWNK	HP:0000365	Hearing impairment	1/2	OMIM:271245
56652	TWNK	HP:0000365	Hearing impairment	HP:0040283	ORPHA:254892
56652	TWNK	HP:0000365	Hearing impairment	HP:0040281	ORPHA:1186
56652	TWNK	HP:0031422	Abnormal cerebellar cortex morphology	HP:0040282	ORPHA:70595
56652	TWNK	HP:0000338	Hypomimic face	HP:0040282	ORPHA:254892
56652	TWNK	HP:0001644	Dilated cardiomyopathy	-	OMIM:607459
56652	TWNK	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:254892
56652	TWNK	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:70595
56652	TWNK	HP:0001662	Bradycardia	HP:0040283	OMIM:609286
56652	TWNK	HP:0001653	Mitral regurgitation	2/7	OMIM:607459
56652	TWNK	HP:0001638	Cardiomyopathy	HP:0040283	OMIM:609286
56652	TWNK	HP:0001634	Mitral valve prolapse	3/7	OMIM:607459
56652	TWNK	HP:0030319	Weakness of facial musculature	1/7	OMIM:607459
56652	TWNK	HP:0000407	Sensorineural hearing impairment	1/7	OMIM:607459
56652	TWNK	HP:0001730	Progressive hearing impairment	HP:0040283	OMIM:609286
56652	TWNK	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:254892
56652	TWNK	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:254892
56652	TWNK	HP:0001751	Abnormal vestibular function	HP:0040282	ORPHA:70595
56652	TWNK	HP:0001751	Abnormal vestibular function	1/7	OMIM:607459
56652	TWNK	HP:0001761	Pes cavus	HP:0040283	OMIM:616138
56652	TWNK	HP:0001761	Pes cavus	1/7	OMIM:607459
56652	TWNK	HP:0025708	Early young adult onset	1/1	OMIM:607459
56652	TWNK	HP:0000518	Cataract	HP:0040283	ORPHA:254892
56652	TWNK	HP:0000518	Cataract	HP:0040283	OMIM:609286
56652	TWNK	HP:0000518	Cataract	HP:0040283	OMIM:607459
56652	TWNK	HP:0000518	Cataract	HP:0040283	ORPHA:70595
56652	TWNK	HP:0001824	Weight loss	2/7	OMIM:607459
56652	TWNK	HP:0000508	Ptosis	HP:0040281	ORPHA:254892
56652	TWNK	HP:0000508	Ptosis	6/7	OMIM:607459
56652	TWNK	HP:0000508	Ptosis	HP:0040282	ORPHA:70595
56652	TWNK	HP:0000508	Ptosis	-	OMIM:609286
56652	TWNK	HP:0000505	Visual impairment	HP:0040283	ORPHA:254892
56652	TWNK	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:254892
56652	TWNK	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:70595
56652	TWNK	HP:0000597	Ophthalmoparesis	1/7	OMIM:607459
56652	TWNK	HP:0000590	Progressive external ophthalmoplegia	20/20	OMIM:609286
56652	TWNK	HP:0000590	Progressive external ophthalmoplegia	1/1	OMIM:607459
56652	TWNK	HP:0000544	External ophthalmoplegia	HP:0040281	ORPHA:254892
56652	TWNK	HP:0000544	External ophthalmoplegia	6/7	OMIM:607459
56683	CFAP298	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
56683	CFAP298	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
56683	CFAP298	HP:0001217	Clubbing	HP:0040283	ORPHA:244
56683	CFAP298	HP:0000007	Autosomal recessive inheritance	-	OMIM:615500
56683	CFAP298	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
56683	CFAP298	HP:0002643	Neonatal respiratory distress	4/4	OMIM:615500
56683	CFAP298	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
56683	CFAP298	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
56683	CFAP298	HP:0031245	Productive cough	HP:0040282	ORPHA:244
56683	CFAP298	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
56683	CFAP298	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
56683	CFAP298	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
56683	CFAP298	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
56683	CFAP298	HP:0002110	Bronchiectasis	2/4	OMIM:615500
56683	CFAP298	HP:0008222	Female infertility	HP:0040283	ORPHA:244
56683	CFAP298	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
56683	CFAP298	HP:0002205	Recurrent respiratory infections	-	OMIM:615500
56683	CFAP298	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
56683	CFAP298	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
56683	CFAP298	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
56683	CFAP298	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	-	OMIM:615500
56683	CFAP298	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
56683	CFAP298	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
56683	CFAP298	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
56683	CFAP298	HP:0000789	Infertility	-	OMIM:615500
56683	CFAP298	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
56683	CFAP298	HP:0004469	Chronic bronchitis	-	OMIM:615500
56683	CFAP298	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
56683	CFAP298	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
56683	CFAP298	HP:0030828	Wheezing	HP:0040283	ORPHA:244
56683	CFAP298	HP:0003251	Male infertility	HP:0040282	ORPHA:244
56683	CFAP298	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
56683	CFAP298	HP:0033036	Decreased nasal nitric oxide	4/4	OMIM:615500
56683	CFAP298	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
56683	CFAP298	HP:0012265	Ciliary dyskinesia	-	OMIM:615500
56683	CFAP298	HP:0012263	Immotile cilia	1/1	OMIM:615500
56683	CFAP298	HP:0012256	Absent outer dynein arms	-	OMIM:615500
56683	CFAP298	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
56683	CFAP298	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
56683	CFAP298	HP:0012207	Reduced sperm motility	-	OMIM:615500
56683	CFAP298	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
56683	CFAP298	HP:0012384	Rhinitis	-	OMIM:615500
56683	CFAP298	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
56683	CFAP298	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
56683	CFAP298	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
56683	CFAP298	HP:0001696	Situs inversus totalis	3/4	OMIM:615500
56683	CFAP298	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
56683	CFAP298	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
56683	CFAP298	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
56683	CFAP298	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
56683	CFAP298	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
56683	CFAP298	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
56683	CFAP298	HP:0000403	Recurrent otitis media	3/4	OMIM:615500
56683	CFAP298	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
56683	CFAP298	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
56683	CFAP298	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
56683	CFAP298	HP:0011108	Recurrent sinusitis	4/4	OMIM:615500
56683	CFAP298	HP:0001746	Asplenia	HP:0040284	ORPHA:244
56683	CFAP298	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
56683	CFAP298	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
56683	CFAP298	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
56683	CFAP298	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
56683	CFAP298	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
56704	JPH1	HP:0001171	Split hand	-	OMIM:607831
56704	JPH1	HP:0002460	Distal muscle weakness	-	OMIM:607831
56704	JPH1	HP:0003701	Proximal muscle weakness	-	OMIM:607831
56704	JPH1	HP:0001284	Areflexia	-	OMIM:607831
56704	JPH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:607831
56704	JPH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:607831
56704	JPH1	HP:0002751	Kyphoscoliosis	-	OMIM:607831
56704	JPH1	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:607831
56704	JPH1	HP:0003450	Axonal regeneration	-	OMIM:607831
56704	JPH1	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:607831
56704	JPH1	HP:0003593	Infantile onset	-	OMIM:607831
56704	JPH1	HP:0003693	Distal amyotrophy	-	OMIM:607831
56704	JPH1	HP:0002936	Distal sensory impairment	-	OMIM:607831
56704	JPH1	HP:0001762	Talipes equinovarus	-	OMIM:607831
56729	RETN	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
56729	RETN	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
56729	RETN	HP:0003584	Late onset	-	OMIM:125853
56729	RETN	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
56729	RETN	HP:0000855	Insulin resistance	-	OMIM:125853
56776	FMN2	HP:0002465	Poor speech	4/5	OMIM:616193
56776	FMN2	HP:0001290	Generalized hypotonia	2/5	OMIM:616193
56776	FMN2	HP:0001249	Intellectual disability	5/5	OMIM:616193
56776	FMN2	HP:0001263	Global developmental delay	5/5	OMIM:616193
56776	FMN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616193
56776	FMN2	HP:0003593	Infantile onset	-	OMIM:616193
56776	FMN2	HP:0002384	Focal impaired awareness seizure	2/5	OMIM:616193
56776	FMN2	HP:0000750	Delayed speech and language development	4/5	OMIM:616193
56776	FMN2	HP:0001634	Mitral valve prolapse	1/5	OMIM:616193
56896	DPYSL5	HP:0001182	Tapered finger	1/6	OMIM:619435
56896	DPYSL5	HP:0001156	Brachydactyly	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0025101	Dysgenesis of the hippocampus	2/3	OMIM:619435
56896	DPYSL5	HP:0010952	Mild fetal ventriculomegaly	1/8	OMIM:619435
56896	DPYSL5	HP:0001195	Single umbilical artery	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0010864	Intellectual disability, severe	8/8	OMIM:619435
56896	DPYSL5	HP:0001274	Agenesis of corpus callosum	8/8	OMIM:619435
56896	DPYSL5	HP:0001252	Hypotonia	8/8	OMIM:619435
56896	DPYSL5	HP:0001252	Hypotonia	HP:0040281	ORPHA:7
56896	DPYSL5	HP:0001251	Ataxia	3/6	OMIM:619435
56896	DPYSL5	HP:0001249	Intellectual disability	HP:0040281	ORPHA:7
56896	DPYSL5	HP:0001263	Global developmental delay	HP:0040281	ORPHA:7
56896	DPYSL5	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0031061	Impaired toileting ability	8/8	OMIM:619435
56896	DPYSL5	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0007359	Focal-onset seizure	1/8	OMIM:619435
56896	DPYSL5	HP:0025336	Delayed ability to sit	8/8	OMIM:619435
56896	DPYSL5	HP:0000054	Micropenis	2/3	OMIM:619435
56896	DPYSL5	HP:0001385	Hip dysplasia	1/8	OMIM:619435
56896	DPYSL5	HP:0001382	Joint hypermobility	1/8	OMIM:619435
56896	DPYSL5	HP:0000047	Hypospadias	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0001357	Plagiocephaly	1/6	OMIM:619435
56896	DPYSL5	HP:0000028	Cryptorchidism	1/3	OMIM:619435
56896	DPYSL5	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0001344	Absent speech	6/8	OMIM:619435
56896	DPYSL5	HP:0000006	Autosomal dominant inheritance	-	OMIM:619435
56896	DPYSL5	HP:0001305	Dandy-Walker malformation	1/8	OMIM:619435
56896	DPYSL5	HP:0001305	Dandy-Walker malformation	HP:0040281	ORPHA:7
56896	DPYSL5	HP:0002650	Scoliosis	5/8	OMIM:619435
56896	DPYSL5	HP:0002650	Scoliosis	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0001321	Cerebellar hypoplasia	6/7	OMIM:619435
56896	DPYSL5	HP:0000189	Narrow palate	2/6	OMIM:619435
56896	DPYSL5	HP:0000175	Cleft palate	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0000154	Wide mouth	1/6	OMIM:619435
56896	DPYSL5	HP:0002705	High, narrow palate	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0002023	Anal atresia	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0002015	Dysphagia	6/8	OMIM:619435
56896	DPYSL5	HP:0002007	Frontal bossing	HP:0040281	ORPHA:7
56896	DPYSL5	HP:0002069	Bilateral tonic-clonic seizure	1/8	OMIM:619435
56896	DPYSL5	HP:0002072	Chorea	1/8	OMIM:619435
56896	DPYSL5	HP:0009487	Ulnar deviation of the hand	1/6	OMIM:619435
56896	DPYSL5	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:7
56896	DPYSL5	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0100710	Impulsivity	1/7	OMIM:619435
56896	DPYSL5	HP:0002212	Curly hair	1/6	OMIM:619435
56896	DPYSL5	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0008491	Premature anterior fontanel closure	1/8	OMIM:619435
56896	DPYSL5	HP:0002305	Athetosis	1/8	OMIM:619435
56896	DPYSL5	HP:0004283	Narrow palm	1/6	OMIM:619435
56896	DPYSL5	HP:0000648	Optic atrophy	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0000612	Iris coloboma	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0000601	Hypotelorism	2/6	OMIM:619435
56896	DPYSL5	HP:0011344	Severe global developmental delay	8/8	OMIM:619435
56896	DPYSL5	HP:0004322	Short stature	3/8	OMIM:619435
56896	DPYSL5	HP:0004322	Short stature	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0004383	Hypoplastic left heart	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0003066	Limited knee extension	1/8	OMIM:619435
56896	DPYSL5	HP:0004397	Ectopic anus	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0031936	Delayed ability to walk	8/8	OMIM:619435
56896	DPYSL5	HP:0000733	Motor stereotypy	2/8	OMIM:619435
56896	DPYSL5	HP:0000718	Aggressive behavior	4/7	OMIM:619435
56896	DPYSL5	HP:0000729	Autistic behavior	1/8	OMIM:619435
56896	DPYSL5	HP:0003196	Short nose	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0000921	Missing ribs	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0000835	Adrenal hypoplasia	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0003272	Abnormal hip bone morphology	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0000256	Macrocephaly	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0000269	Prominent occiput	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0002827	Hip dislocation	1/8	OMIM:619435
56896	DPYSL5	HP:0002808	Kyphosis	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0000235	Abnormal cranial suture/fontanelle morphology	HP:0040281	ORPHA:7
56896	DPYSL5	HP:0000248	Brachycephaly	1/6	OMIM:619435
56896	DPYSL5	HP:0000218	High palate	2/6	OMIM:619435
56896	DPYSL5	HP:0001558	Decreased fetal movement	2/8	OMIM:619435
56896	DPYSL5	HP:0001522	Death in infancy	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0002937	Hemivertebrae	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0000369	Low-set ears	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0000347	Micrognathia	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0001650	Aortic valve stenosis	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0000316	Hypertelorism	1/6	OMIM:619435
56896	DPYSL5	HP:0000316	Hypertelorism	HP:0040281	ORPHA:7
56896	DPYSL5	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0000329	Facial hemangioma	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0000322	Short philtrum	1/6	OMIM:619435
56896	DPYSL5	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0001633	Abnormal mitral valve morphology	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0006695	Atrioventricular canal defect	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0000400	Macrotia	1/6	OMIM:619435
56896	DPYSL5	HP:0001702	Abnormal tricuspid valve morphology	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0000486	Strabismus	5/8	OMIM:619435
56896	DPYSL5	HP:0012471	Thick vermilion border	1/6	OMIM:619435
56896	DPYSL5	HP:0000494	Downslanted palpebral fissures	1/6	OMIM:619435
56896	DPYSL5	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:7
56896	DPYSL5	HP:0000490	Deeply set eye	2/6	OMIM:619435
56896	DPYSL5	HP:0000470	Short neck	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0000431	Wide nasal bridge	1/6	OMIM:619435
56896	DPYSL5	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:7
56896	DPYSL5	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0000520	Proptosis	1/6	OMIM:619435
56896	DPYSL5	HP:0000501	Glaucoma	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0001804	Hypoplastic fingernail	HP:0040283	ORPHA:7
56896	DPYSL5	HP:0000567	Chorioretinal coloboma	HP:0040283	ORPHA:7
56910	STARD7	HP:0010852	EEG with photoparoxysmal response	-	OMIM:607876
56910	STARD7	HP:0001251	Ataxia	3/201	OMIM:607876
56910	STARD7	HP:0001249	Intellectual disability	9/193	OMIM:607876
56910	STARD7	HP:0001351	Jerk-locked premyoclonus spikes	-	OMIM:607876
56910	STARD7	HP:0001326	EEG with irregular generalized spike and wave complexes	-	OMIM:607876
56910	STARD7	HP:0001340	Enhancement of the C-reflex	-	OMIM:607876
56910	STARD7	HP:0001337	Tremor	-	OMIM:607876
56910	STARD7	HP:0000006	Autosomal dominant inheritance	-	OMIM:607876
56910	STARD7	HP:0001336	Myoclonus	195/227	OMIM:607876
56910	STARD7	HP:0001312	Giant somatosensory evoked potentials	-	OMIM:607876
56910	STARD7	HP:0100543	Cognitive impairment	HP:0040283	OMIM:607876
56910	STARD7	HP:0002069	Bilateral tonic-clonic seizure	118/229	OMIM:607876
56910	STARD7	HP:0002076	Migraine	42/130	OMIM:607876
56910	STARD7	HP:0003581	Adult onset	-	OMIM:607876
56910	STARD7	HP:0003680	Nonprogressive	-	OMIM:607876
56910	STARD7	HP:0000643	Blepharospasm	-	OMIM:607876
56910	STARD7	HP:0000726	Dementia	5/199	OMIM:607876
56915	EXOSC5	HP:0001182	Tapered finger	2/2	OMIM:619576
56915	EXOSC5	HP:0002415	Leukodystrophy	3/3	OMIM:619576
56915	EXOSC5	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
56915	EXOSC5	HP:0001293	Cranial nerve compression	-	OMIM:131300
56915	EXOSC5	HP:0001290	Generalized hypotonia	3/3	OMIM:619576
56915	EXOSC5	HP:0001272	Cerebellar atrophy	3/3	OMIM:619576
56915	EXOSC5	HP:0001252	Hypotonia	1/2	OMIM:619576
56915	EXOSC5	HP:0001252	Hypotonia	2/7	OMIM:615777
56915	EXOSC5	HP:0001251	Ataxia	3/3	OMIM:619576
56915	EXOSC5	HP:0001249	Intellectual disability	3/3	OMIM:619576
56915	EXOSC5	HP:0001249	Intellectual disability	5/7	OMIM:615777
56915	EXOSC5	HP:0001260	Dysarthria	3/3	OMIM:619576
56915	EXOSC5	HP:0001263	Global developmental delay	5/5	OMIM:619576
56915	EXOSC5	HP:0001263	Global developmental delay	-	OMIM:615777
56915	EXOSC5	HP:0001257	Spasticity	4/5	OMIM:619576
56915	EXOSC5	HP:0002540	Inability to walk	1/2	OMIM:619576
56915	EXOSC5	HP:0002515	Waddling gait	54/102	OMIM:131300
56915	EXOSC5	HP:0001382	Joint hypermobility	-	OMIM:615777
56915	EXOSC5	HP:0001347	Hyperreflexia	3/3	OMIM:619576
56915	EXOSC5	HP:0002694	Sclerosis of skull base	-	OMIM:131300
56915	EXOSC5	HP:0008897	Postnatal growth retardation	-	OMIM:615777
56915	EXOSC5	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
56915	EXOSC5	HP:0001324	Muscle weakness	3/3	OMIM:619576
56915	EXOSC5	HP:0001324	Muscle weakness	40/96	OMIM:131300
56915	EXOSC5	HP:0001344	Absent speech	1/2	OMIM:619576
56915	EXOSC5	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
56915	EXOSC5	HP:0000007	Autosomal recessive inheritance	-	OMIM:619576
56915	EXOSC5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
56915	EXOSC5	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
56915	EXOSC5	HP:0001310	Dysmetria	1/2	OMIM:619576
56915	EXOSC5	HP:0001302	Pachygyria	3/3	OMIM:619576
56915	EXOSC5	HP:0002650	Scoliosis	1/2	OMIM:619576
56915	EXOSC5	HP:0002650	Scoliosis	12/14	OMIM:131300
56915	EXOSC5	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
56915	EXOSC5	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
56915	EXOSC5	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
56915	EXOSC5	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
56915	EXOSC5	HP:0000175	Cleft palate	2/7	OMIM:615777
56915	EXOSC5	HP:0000154	Wide mouth	1/2	OMIM:619576
56915	EXOSC5	HP:0002015	Dysphagia	3/3	OMIM:619576
56915	EXOSC5	HP:0003388	Easy fatigability	36/76	OMIM:131300
56915	EXOSC5	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
56915	EXOSC5	HP:0011712	Complete right bundle branch block	3/3	OMIM:619576
56915	EXOSC5	HP:0002120	Cerebral cortical atrophy	3/3	OMIM:619576
56915	EXOSC5	HP:0003429	CNS hypomyelination	2/2	OMIM:619576
56915	EXOSC5	HP:0002187	Intellectual disability, profound	1/2	OMIM:619576
56915	EXOSC5	HP:0003593	Infantile onset	3/3	OMIM:619576
56915	EXOSC5	HP:0011968	Feeding difficulties	3/3	OMIM:619576
56915	EXOSC5	HP:0003510	Severe short stature	7/7	OMIM:615777
56915	EXOSC5	HP:0002315	Headache	-	OMIM:131300
56915	EXOSC5	HP:0004976	Knee dislocation	6/7	OMIM:615777
56915	EXOSC5	HP:0009803	Short phalanx of finger	-	OMIM:615777
56915	EXOSC5	HP:0009763	Limb pain	63/92	OMIM:131300
56915	EXOSC5	HP:0002310	Orofacial dyskinesia	1/2	OMIM:619576
56915	EXOSC5	HP:0003621	Juvenile onset	-	OMIM:131300
56915	EXOSC5	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
56915	EXOSC5	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
56915	EXOSC5	HP:6001056	Out-toeing	-	OMIM:131300
56915	EXOSC5	HP:0000651	Diplopia	-	OMIM:131300
56915	EXOSC5	HP:0000648	Optic atrophy	1/2	OMIM:619576
56915	EXOSC5	HP:0001956	Truncal obesity	2/7	OMIM:615777
56915	EXOSC5	HP:0001903	Anemia	HP:0040283	OMIM:131300
56915	EXOSC5	HP:0010049	Short metacarpal	-	OMIM:615777
56915	EXOSC5	HP:0000678	Dental crowding	-	OMIM:615777
56915	EXOSC5	HP:0000692	Tooth malposition	1/2	OMIM:619576
56915	EXOSC5	HP:0000670	Carious teeth	-	OMIM:131300
56915	EXOSC5	HP:0011304	Broad thumb	2/7	OMIM:615777
56915	EXOSC5	HP:0000668	Hypodontia	-	OMIM:615777
56915	EXOSC5	HP:0000664	Synophrys	-	OMIM:615777
56915	EXOSC5	HP:0000666	Horizontal nystagmus	3/3	OMIM:619576
56915	EXOSC5	HP:0004322	Short stature	1/2	OMIM:619576
56915	EXOSC5	HP:0004396	Poor appetite	-	OMIM:131300
56915	EXOSC5	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
56915	EXOSC5	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
56915	EXOSC5	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
56915	EXOSC5	HP:0003026	Short long bone	7/7	OMIM:615777
56915	EXOSC5	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
56915	EXOSC5	HP:0000767	Pectus excavatum	2/7	OMIM:615777
56915	EXOSC5	HP:0000768	Pectus carinatum	1/7	OMIM:615777
56915	EXOSC5	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
56915	EXOSC5	HP:0000750	Delayed speech and language development	-	OMIM:615777
56915	EXOSC5	HP:0011461	Fetal onset	7/7	OMIM:615777
56915	EXOSC5	HP:0000774	Narrow chest	2/7	OMIM:615777
56915	EXOSC5	HP:0004411	Deviated nasal septum	1/2	OMIM:619576
56915	EXOSC5	HP:0000926	Platyspondyly	1/7	OMIM:615777
56915	EXOSC5	HP:0003180	Flat acetabular roof	-	OMIM:615777
56915	EXOSC5	HP:0004482	Relative macrocephaly	-	OMIM:615777
56915	EXOSC5	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
56915	EXOSC5	HP:0000823	Delayed puberty	-	OMIM:131300
56915	EXOSC5	HP:0000894	Short clavicles	-	OMIM:615777
56915	EXOSC5	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
56915	EXOSC5	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
56915	EXOSC5	HP:0000286	Epicanthus	1/7	OMIM:615777
56915	EXOSC5	HP:0000280	Coarse facial features	2/7	OMIM:615777
56915	EXOSC5	HP:0000278	Retrognathia	1/2	OMIM:619576
56915	EXOSC5	HP:0002827	Hip dislocation	3/7	OMIM:615777
56915	EXOSC5	HP:0030084	Clinodactyly	1/2	OMIM:619576
56915	EXOSC5	HP:0000252	Microcephaly	2/2	OMIM:619576
56915	EXOSC5	HP:0000252	Microcephaly	-	OMIM:615777
56915	EXOSC5	HP:0002857	Genu valgum	-	OMIM:131300
56915	EXOSC5	HP:0001533	Slender build	-	OMIM:131300
56915	EXOSC5	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
56915	EXOSC5	HP:0001510	Growth delay	3/3	OMIM:619576
56915	EXOSC5	HP:0007807	Optic nerve compression	-	OMIM:131300
56915	EXOSC5	HP:0012385	Camptodactyly	1/2	OMIM:619576
56915	EXOSC5	HP:0012368	Flat face	7/7	OMIM:615777
56915	EXOSC5	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
56915	EXOSC5	HP:0005180	Tricuspid regurgitation	3/3	OMIM:619576
56915	EXOSC5	HP:0000365	Hearing impairment	10/67	OMIM:131300
56915	EXOSC5	HP:0000340	Sloping forehead	1/2	OMIM:619576
56915	EXOSC5	HP:0000343	Long philtrum	1/7	OMIM:615777
56915	EXOSC5	HP:0011001	Increased bone mineral density	-	OMIM:131300
56915	EXOSC5	HP:0032794	Myoclonic seizure	1/2	OMIM:619576
56915	EXOSC5	HP:0000311	Round face	2/7	OMIM:615777
56915	EXOSC5	HP:0001653	Mitral regurgitation	3/3	OMIM:619576
56915	EXOSC5	HP:0002970	Genu varum	-	OMIM:615777
56915	EXOSC5	HP:0000303	Mandibular prognathia	-	OMIM:131300
56915	EXOSC5	HP:0000303	Mandibular prognathia	1/2	OMIM:619576
56915	EXOSC5	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
56915	EXOSC5	HP:0000483	Astigmatism	2/2	OMIM:619576
56915	EXOSC5	HP:0000486	Strabismus	1/3	OMIM:619576
56915	EXOSC5	HP:0012471	Thick vermilion border	1/2	OMIM:619576
56915	EXOSC5	HP:0000470	Short neck	1/7	OMIM:615777
56915	EXOSC5	HP:0001769	Broad foot	HP:0040283	OMIM:615777
56915	EXOSC5	HP:0001763	Pes planus	1/7	OMIM:615777
56915	EXOSC5	HP:0000448	Prominent nose	1/2	OMIM:619576
56915	EXOSC5	HP:0000426	Prominent nasal bridge	1/2	OMIM:619576
56915	EXOSC5	HP:0001840	Metatarsus adductus	-	OMIM:615777
56915	EXOSC5	HP:0000520	Proptosis	2/4	OMIM:131300
56915	EXOSC5	HP:0000520	Proptosis	7/7	OMIM:615777
56915	EXOSC5	HP:0000592	Blue sclerae	2/7	OMIM:615777
56915	EXOSC5	HP:0000565	Esotropia	2/2	OMIM:619576
56915	EXOSC5	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
56915	EXOSC5	HP:0012514	Lower limb pain	4/4	OMIM:131300
56915	EXOSC5	HP:0000545	Myopia	3/5	OMIM:619576
56916	SMARCAD1	HP:0001182	Tapered finger	-	OMIM:129200
56916	SMARCAD1	HP:0001182	Tapered finger	-	OMIM:181600
56916	SMARCAD1	HP:0031045	Acral blistering	11/14	OMIM:129200
56916	SMARCAD1	HP:0001217	Clubbing	-	OMIM:136000
56916	SMARCAD1	HP:0007545	Congenital palmoplantar hyperkeratosis	-	OMIM:181600
56916	SMARCAD1	HP:0007477	Abnormal dermatoglyphics	HP:0040281	ORPHA:1658
56916	SMARCAD1	HP:0007455	Adermatoglyphia	-	OMIM:136000
56916	SMARCAD1	HP:0007455	Adermatoglyphia	-	OMIM:181600
56916	SMARCAD1	HP:0007455	Adermatoglyphia	15/15	OMIM:129200
56916	SMARCAD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:136000
56916	SMARCAD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:181600
56916	SMARCAD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:129200
56916	SMARCAD1	HP:0032541	Knuckle pad	7/8	OMIM:129200
56916	SMARCAD1	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:1658
56916	SMARCAD1	HP:0011838	Sclerodactyly	HP:0040281	ORPHA:384
56916	SMARCAD1	HP:0008404	Nail dystrophy	1/8	OMIM:129200
56916	SMARCAD1	HP:0008404	Nail dystrophy	-	OMIM:181600
56916	SMARCAD1	HP:0010621	Cutaneous syndactyly of toes	HP:0040283	OMIM:129200
56916	SMARCAD1	HP:0001056	Milia	8/8	OMIM:129200
56916	SMARCAD1	HP:0001056	Milia	HP:0040281	ORPHA:1658
56916	SMARCAD1	HP:0001034	Hypermelanotic macule	5/8	OMIM:129200
56916	SMARCAD1	HP:0025092	Epidermal acanthosis	-	OMIM:129200
56916	SMARCAD1	HP:0025092	Epidermal acanthosis	-	OMIM:181600
56916	SMARCAD1	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:384
56916	SMARCAD1	HP:0001072	Thickened skin	HP:0040282	ORPHA:1658
56916	SMARCAD1	HP:0010765	Palmar hyperkeratosis	-	OMIM:136000
56916	SMARCAD1	HP:0009775	Amniotic constriction ring	HP:0040283	ORPHA:1658
56916	SMARCAD1	HP:0003623	Neonatal onset	8/8	OMIM:129200
56916	SMARCAD1	HP:0034012	Palmoplantar hypohidrosis	8/8	OMIM:129200
56916	SMARCAD1	HP:0000988	Skin rash	HP:0040282	ORPHA:1658
56916	SMARCAD1	HP:0000982	Palmoplantar keratoderma	2/8	OMIM:129200
56916	SMARCAD1	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:384
56916	SMARCAD1	HP:0000958	Dry skin	HP:0040281	ORPHA:384
56916	SMARCAD1	HP:0000954	Single transverse palmar crease	-	OMIM:129200
56916	SMARCAD1	HP:0000968	Ectodermal dysplasia	-	OMIM:129200
56916	SMARCAD1	HP:0000966	Hypohidrosis	HP:0040282	ORPHA:1658
56916	SMARCAD1	HP:0000963	Thin skin	HP:0040281	ORPHA:1658
56916	SMARCAD1	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:384
56916	SMARCAD1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:1658
56916	SMARCAD1	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:384
56916	SMARCAD1	HP:0030044	Flexion contracture of digit	8/8	OMIM:129200
56916	SMARCAD1	HP:0001792	Small nail	HP:0040281	ORPHA:384
56916	SMARCAD1	HP:0001792	Small nail	-	OMIM:181600
56916	SMARCAD1	HP:0006739	Squamous cell carcinoma of the skin	15%	OMIM:181600
56922	MCCC1	HP:0033596	Elevated urinary 3-methylcrotonylglycine level	7/7	OMIM:210200
56922	MCCC1	HP:0001290	Generalized hypotonia	-	OMIM:210200
56922	MCCC1	HP:0001254	Lethargy	-	OMIM:210200
56922	MCCC1	HP:0001250	Seizure	-	OMIM:210200
56922	MCCC1	HP:0001252	Hypotonia	-	OMIM:210200
56922	MCCC1	HP:0001252	Hypotonia	HP:0040281	ORPHA:6
56922	MCCC1	HP:0001249	Intellectual disability	-	OMIM:210200
56922	MCCC1	HP:0001263	Global developmental delay	20/20	OMIM:210200
56922	MCCC1	HP:0001257	Spasticity	HP:0040283	ORPHA:6
56922	MCCC1	HP:0001259	Coma	-	OMIM:210200
56922	MCCC1	HP:0001347	Hyperreflexia	-	OMIM:210200
56922	MCCC1	HP:0008872	Feeding difficulties in infancy	-	OMIM:210200
56922	MCCC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:210200
56922	MCCC1	HP:0002013	Vomiting	-	OMIM:210200
56922	MCCC1	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:6
56922	MCCC1	HP:0033111	3-hydroxyisovaleric aciduria	7/7	OMIM:210200
56922	MCCC1	HP:0002104	Apnea	-	OMIM:210200
56922	MCCC1	HP:0002179	Opisthotonus	-	OMIM:210200
56922	MCCC1	HP:0008281	Acute hyperammonemia	-	OMIM:210200
56922	MCCC1	HP:0003593	Infantile onset	2/5	OMIM:210200
56922	MCCC1	HP:0003581	Adult onset	2/5	OMIM:210200
56922	MCCC1	HP:0100659	Abnormal cerebral vascular morphology	HP:0040283	ORPHA:6
56922	MCCC1	HP:0003621	Juvenile onset	1/5	OMIM:210200
56922	MCCC1	HP:0004911	Episodic metabolic acidosis	-	OMIM:210200
56922	MCCC1	HP:0001943	Hypoglycemia	-	OMIM:210200
56922	MCCC1	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:6
56922	MCCC1	HP:0001992	Organic aciduria	HP:0040281	ORPHA:6
56922	MCCC1	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:6
56922	MCCC1	HP:0004357	Abnormal circulating leucine concentration	HP:0040281	ORPHA:6
56922	MCCC1	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:6
56922	MCCC1	HP:4000206	Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts	-	OMIM:210200
56922	MCCC1	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:6
56922	MCCC1	HP:0001508	Failure to thrive	-	OMIM:210200
56922	MCCC1	HP:0006573	Acute hepatic steatosis	-	OMIM:210200
56922	MCCC1	HP:0002919	Ketonuria	-	OMIM:210200
56937	PMEPA1	HP:0009901	Crumpled ear	90/119	OMIM:121050
56937	PMEPA1	HP:0001181	Adducted thumb	42/90	OMIM:121050
56937	PMEPA1	HP:0001166	Arachnodactyly	104/124	OMIM:121050
56937	PMEPA1	HP:0001166	Arachnodactyly	124/197	OMIM:154700
56937	PMEPA1	HP:0001166	Arachnodactyly	34/37	OMIM:182212
56937	PMEPA1	HP:0001166	Arachnodactyly	6/15	OMIM:208050
56937	PMEPA1	HP:0003745	Sporadic	-	OMIM:182212
56937	PMEPA1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
56937	PMEPA1	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
56937	PMEPA1	HP:0001290	Generalized hypotonia	-	OMIM:208050
56937	PMEPA1	HP:0001290	Generalized hypotonia	-	OMIM:182212
56937	PMEPA1	HP:0001270	Motor delay	-	OMIM:121050
56937	PMEPA1	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
56937	PMEPA1	HP:0001252	Hypotonia	26/37	OMIM:182212
56937	PMEPA1	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
56937	PMEPA1	HP:0001249	Intellectual disability	-	OMIM:182212
56937	PMEPA1	HP:0001263	Global developmental delay	-	OMIM:182212
56937	PMEPA1	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
56937	PMEPA1	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
56937	PMEPA1	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
56937	PMEPA1	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
56937	PMEPA1	HP:0000098	Tall stature	-	OMIM:154700
56937	PMEPA1	HP:0001377	Limited elbow extension	94/109	OMIM:121050
56937	PMEPA1	HP:0001377	Limited elbow extension	29/199	OMIM:154700
56937	PMEPA1	HP:0001371	Flexion contracture	-	OMIM:208050
56937	PMEPA1	HP:0001371	Flexion contracture	-	OMIM:154700
56937	PMEPA1	HP:0001382	Joint hypermobility	1/1	OMIM:130050
56937	PMEPA1	HP:0001382	Joint hypermobility	12/14	OMIM:208050
56937	PMEPA1	HP:0001382	Joint hypermobility	11/53	OMIM:154700
56937	PMEPA1	HP:0001382	Joint hypermobility	31/47	OMIM:182212
56937	PMEPA1	HP:0000023	Inguinal hernia	11/11	OMIM:130050
56937	PMEPA1	HP:0000023	Inguinal hernia	8/15	OMIM:208050
56937	PMEPA1	HP:0000023	Inguinal hernia	19/34	OMIM:182212
56937	PMEPA1	HP:0001363	Craniosynostosis	18/37	OMIM:182212
56937	PMEPA1	HP:0000028	Cryptorchidism	1/1	OMIM:130050
56937	PMEPA1	HP:0000028	Cryptorchidism	1/13	OMIM:182212
56937	PMEPA1	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
56937	PMEPA1	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
56937	PMEPA1	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
56937	PMEPA1	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
56937	PMEPA1	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
56937	PMEPA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
56937	PMEPA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
56937	PMEPA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
56937	PMEPA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
56937	PMEPA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
56937	PMEPA1	HP:0002650	Scoliosis	16/53	OMIM:154700
56937	PMEPA1	HP:0002650	Scoliosis	11/15	OMIM:121050
56937	PMEPA1	HP:0002650	Scoliosis	3/15	OMIM:208050
56937	PMEPA1	HP:0002650	Scoliosis	23/37	OMIM:182212
56937	PMEPA1	HP:0002647	Aortic dissection	1/58	OMIM:154700
56937	PMEPA1	HP:0002619	Varicose veins	-	OMIM:130050
56937	PMEPA1	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
56937	PMEPA1	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
56937	PMEPA1	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
56937	PMEPA1	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
56937	PMEPA1	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
56937	PMEPA1	HP:0000189	Narrow palate	-	OMIM:182212
56937	PMEPA1	HP:0000189	Narrow palate	-	OMIM:154700
56937	PMEPA1	HP:0000193	Bifid uvula	0/14	OMIM:208050
56937	PMEPA1	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
56937	PMEPA1	HP:0012151	Hemothorax	3/4	OMIM:130050
56937	PMEPA1	HP:0000139	Uterine prolapse	-	OMIM:130050
56937	PMEPA1	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
56937	PMEPA1	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
56937	PMEPA1	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
56937	PMEPA1	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
56937	PMEPA1	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
56937	PMEPA1	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
56937	PMEPA1	HP:0002036	Hiatus hernia	-	OMIM:208050
56937	PMEPA1	HP:0002007	Frontal bossing	-	OMIM:121050
56937	PMEPA1	HP:0002007	Frontal bossing	-	OMIM:182212
56937	PMEPA1	HP:0003302	Spondylolisthesis	-	OMIM:154700
56937	PMEPA1	HP:0002097	Emphysema	8/9	OMIM:130050
56937	PMEPA1	HP:0002097	Emphysema	HP:0040283	OMIM:154700
56937	PMEPA1	HP:0030961	Microspherophakia	2/53	OMIM:154700
56937	PMEPA1	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
56937	PMEPA1	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
56937	PMEPA1	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
56937	PMEPA1	HP:0010499	Patellar subluxation	12/22	OMIM:121050
56937	PMEPA1	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
56937	PMEPA1	HP:0002140	Ischemic stroke	-	OMIM:208050
56937	PMEPA1	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
56937	PMEPA1	HP:0002107	Pneumothorax	2/2	OMIM:130050
56937	PMEPA1	HP:0002107	Pneumothorax	6/53	OMIM:154700
56937	PMEPA1	HP:0002105	Hemoptysis	6/10	OMIM:130050
56937	PMEPA1	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
56937	PMEPA1	HP:0003593	Infantile onset	5/16	OMIM:208050
56937	PMEPA1	HP:0003577	Congenital onset	5/5	OMIM:121050
56937	PMEPA1	HP:0003577	Congenital onset	12/26	OMIM:208050
56937	PMEPA1	HP:0100718	Uterine rupture	-	OMIM:130050
56937	PMEPA1	HP:0004872	Incisional hernia	-	OMIM:154700
56937	PMEPA1	HP:0100775	Dural ectasia	112/140	OMIM:154700
56937	PMEPA1	HP:0100749	Chest pain	1/2	OMIM:130050
56937	PMEPA1	HP:0002293	Alopecia of scalp	-	OMIM:130050
56937	PMEPA1	HP:0034671	Knee contracture	7/14	OMIM:121050
56937	PMEPA1	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
56937	PMEPA1	HP:0010648	Dermal translucency	3/3	OMIM:130050
56937	PMEPA1	HP:0007099	Chiari type I malformation	-	OMIM:182212
56937	PMEPA1	HP:0025019	Arterial rupture	-	OMIM:130050
56937	PMEPA1	HP:0001065	Striae distensae	11/53	OMIM:154700
56937	PMEPA1	HP:0001030	Fragile skin	-	OMIM:130050
56937	PMEPA1	HP:0001027	Soft, doughy skin	-	OMIM:208050
56937	PMEPA1	HP:0100645	Cystocele	-	OMIM:130050
56937	PMEPA1	HP:0001073	Cigarette-paper scars	-	OMIM:130050
56937	PMEPA1	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
56937	PMEPA1	HP:0001083	Ectopia lentis	119/251	OMIM:154700
56937	PMEPA1	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
56937	PMEPA1	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
56937	PMEPA1	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
56937	PMEPA1	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
56937	PMEPA1	HP:0003623	Neonatal onset	3/16	OMIM:208050
56937	PMEPA1	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
56937	PMEPA1	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
56937	PMEPA1	HP:0003621	Juvenile onset	2/16	OMIM:208050
56937	PMEPA1	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
56937	PMEPA1	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
56937	PMEPA1	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
56937	PMEPA1	HP:0001977	Abnormal thrombosis	-	OMIM:208050
56937	PMEPA1	HP:0001903	Anemia	1/1	OMIM:130050
56937	PMEPA1	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
56937	PMEPA1	HP:0000678	Dental crowding	8/53	OMIM:154700
56937	PMEPA1	HP:0000689	Dental malocclusion	-	OMIM:182212
56937	PMEPA1	HP:0004322	Short stature	-	OMIM:130050
56937	PMEPA1	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
56937	PMEPA1	HP:0003088	Premature osteoarthritis	-	OMIM:154700
56937	PMEPA1	HP:0003083	Dislocated radial head	5/37	OMIM:182212
56937	PMEPA1	HP:0003066	Limited knee extension	38/45	OMIM:121050
56937	PMEPA1	HP:0003042	Elbow dislocation	1/12	OMIM:121050
56937	PMEPA1	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
56937	PMEPA1	HP:0005684	Distal arthrogryposis	-	OMIM:121050
56937	PMEPA1	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
56937	PMEPA1	HP:0000767	Pectus excavatum	2/14	OMIM:121050
56937	PMEPA1	HP:0000767	Pectus excavatum	1/4	OMIM:130050
56937	PMEPA1	HP:0000767	Pectus excavatum	3/15	OMIM:208050
56937	PMEPA1	HP:0000767	Pectus excavatum	44/146	OMIM:154700
56937	PMEPA1	HP:0000767	Pectus excavatum	-	OMIM:182212
56937	PMEPA1	HP:0000768	Pectus carinatum	4/14	OMIM:121050
56937	PMEPA1	HP:0000768	Pectus carinatum	2/15	OMIM:208050
56937	PMEPA1	HP:0000768	Pectus carinatum	58/146	OMIM:154700
56937	PMEPA1	HP:0000768	Pectus carinatum	-	OMIM:182212
56937	PMEPA1	HP:0000704	Periodontitis	-	OMIM:130050
56937	PMEPA1	HP:0011463	Childhood onset	1/16	OMIM:208050
56937	PMEPA1	HP:0011462	Young adult onset	3/16	OMIM:208050
56937	PMEPA1	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
56937	PMEPA1	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
56937	PMEPA1	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
56937	PMEPA1	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
56937	PMEPA1	HP:0030799	Scaphocephaly	-	OMIM:121050
56937	PMEPA1	HP:0003199	Decreased muscle mass	-	OMIM:154700
56937	PMEPA1	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
56937	PMEPA1	HP:0000883	Thin ribs	-	OMIM:182212
56937	PMEPA1	HP:0000822	Hypertension	-	OMIM:208050
56937	PMEPA1	HP:0000895	Lateral clavicle hook	-	OMIM:182212
56937	PMEPA1	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
56937	PMEPA1	HP:0034391	Elbow contracture	10/14	OMIM:121050
56937	PMEPA1	HP:0003273	Hip contracture	32/121	OMIM:121050
56937	PMEPA1	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
56937	PMEPA1	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
56937	PMEPA1	HP:0000978	Bruising susceptibility	-	OMIM:208050
56937	PMEPA1	HP:0000977	Soft skin	7/15	OMIM:208050
56937	PMEPA1	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
56937	PMEPA1	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
56937	PMEPA1	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
56937	PMEPA1	HP:0000973	Cutis laxa	5/14	OMIM:208050
56937	PMEPA1	HP:0000963	Thin skin	4/13	OMIM:208050
56937	PMEPA1	HP:0000938	Osteopenia	-	OMIM:121050
56937	PMEPA1	HP:0000938	Osteopenia	-	OMIM:182212
56937	PMEPA1	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
56937	PMEPA1	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
56937	PMEPA1	HP:0025586	Hypertropia	8/573	OMIM:154700
56937	PMEPA1	HP:0000278	Retrognathia	-	OMIM:154700
56937	PMEPA1	HP:0000260	Wide anterior fontanel	-	OMIM:182212
56937	PMEPA1	HP:0000275	Narrow face	-	OMIM:154700
56937	PMEPA1	HP:0000276	Long face	14/14	OMIM:208050
56937	PMEPA1	HP:0000276	Long face	-	OMIM:154700
56937	PMEPA1	HP:0000272	Malar flattening	9/14	OMIM:208050
56937	PMEPA1	HP:0000272	Malar flattening	31/53	OMIM:154700
56937	PMEPA1	HP:0000268	Dolichocephaly	-	OMIM:121050
56937	PMEPA1	HP:0000268	Dolichocephaly	36/53	OMIM:154700
56937	PMEPA1	HP:0000268	Dolichocephaly	28/37	OMIM:182212
56937	PMEPA1	HP:0005136	Mitral annular calcification	-	OMIM:154700
56937	PMEPA1	HP:0002816	Genu recurvatum	-	OMIM:182212
56937	PMEPA1	HP:0002816	Genu recurvatum	-	OMIM:154700
56937	PMEPA1	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
56937	PMEPA1	HP:0000244	Brachyturricephaly	-	OMIM:182212
56937	PMEPA1	HP:0000238	Hydrocephalus	13/37	OMIM:182212
56937	PMEPA1	HP:0000252	Microcephaly	6/37	OMIM:182212
56937	PMEPA1	HP:0000248	Brachycephaly	-	OMIM:121050
56937	PMEPA1	HP:0000218	High palate	34/53	OMIM:154700
56937	PMEPA1	HP:0000218	High palate	30/102	OMIM:121050
56937	PMEPA1	HP:0000218	High palate	5/13	OMIM:208050
56937	PMEPA1	HP:0000218	High palate	30/37	OMIM:182212
56937	PMEPA1	HP:0000233	Thin vermilion border	-	OMIM:130050
56937	PMEPA1	HP:0030009	Cervical insufficiency	-	OMIM:130050
56937	PMEPA1	HP:0002857	Genu valgum	4/37	OMIM:182212
56937	PMEPA1	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
56937	PMEPA1	HP:0001537	Umbilical hernia	-	OMIM:208050
56937	PMEPA1	HP:0001537	Umbilical hernia	13/37	OMIM:182212
56937	PMEPA1	HP:0031364	Ecchymosis	-	OMIM:130050
56937	PMEPA1	HP:0001519	Disproportionate tall stature	-	OMIM:121050
56937	PMEPA1	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
56937	PMEPA1	HP:0007800	Increased axial length of the globe	-	OMIM:154700
56937	PMEPA1	HP:0012385	Camptodactyly	86/110	OMIM:121050
56937	PMEPA1	HP:0012385	Camptodactyly	19/53	OMIM:154700
56937	PMEPA1	HP:0012385	Camptodactyly	24/37	OMIM:182212
56937	PMEPA1	HP:0000387	Absent earlobe	-	OMIM:130050
56937	PMEPA1	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
56937	PMEPA1	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
56937	PMEPA1	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
56937	PMEPA1	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
56937	PMEPA1	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
56937	PMEPA1	HP:0006480	Premature loss of teeth	-	OMIM:130050
56937	PMEPA1	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
56937	PMEPA1	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
56937	PMEPA1	HP:0000369	Low-set ears	32/37	OMIM:182212
56937	PMEPA1	HP:0000343	Long philtrum	-	OMIM:208050
56937	PMEPA1	HP:0002999	Patellar dislocation	2/20	OMIM:121050
56937	PMEPA1	HP:0000347	Micrognathia	-	OMIM:154700
56937	PMEPA1	HP:0000347	Micrognathia	26/94	OMIM:121050
56937	PMEPA1	HP:0000347	Micrognathia	5/14	OMIM:208050
56937	PMEPA1	HP:0000347	Micrognathia	33/37	OMIM:182212
56937	PMEPA1	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
56937	PMEPA1	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
56937	PMEPA1	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
56937	PMEPA1	HP:0000316	Hypertelorism	6/16	OMIM:208050
56937	PMEPA1	HP:0000316	Hypertelorism	28/37	OMIM:182212
56937	PMEPA1	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
56937	PMEPA1	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
56937	PMEPA1	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
56937	PMEPA1	HP:0001659	Aortic regurgitation	-	OMIM:208050
56937	PMEPA1	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
56937	PMEPA1	HP:0001653	Mitral regurgitation	-	OMIM:121050
56937	PMEPA1	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
56937	PMEPA1	HP:0001629	Ventricular septal defect	-	OMIM:121050
56937	PMEPA1	HP:0001635	Congestive heart failure	-	OMIM:154700
56937	PMEPA1	HP:0001631	Atrial septal defect	-	OMIM:121050
56937	PMEPA1	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
56937	PMEPA1	HP:0001634	Mitral valve prolapse	-	OMIM:130050
56937	PMEPA1	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
56937	PMEPA1	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
56937	PMEPA1	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
56937	PMEPA1	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
56937	PMEPA1	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
56937	PMEPA1	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
56937	PMEPA1	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
56937	PMEPA1	HP:0000400	Macrotia	7/15	OMIM:208050
56937	PMEPA1	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
56937	PMEPA1	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
56937	PMEPA1	HP:0000483	Astigmatism	3/53	OMIM:154700
56937	PMEPA1	HP:0000483	Astigmatism	5/15	OMIM:208050
56937	PMEPA1	HP:0000486	Strabismus	110/573	OMIM:154700
56937	PMEPA1	HP:0000486	Strabismus	17/37	OMIM:182212
56937	PMEPA1	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
56937	PMEPA1	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
56937	PMEPA1	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
56937	PMEPA1	HP:0000490	Deeply set eye	25/63	OMIM:154700
56937	PMEPA1	HP:0000463	Anteverted nares	9/37	OMIM:182212
56937	PMEPA1	HP:0001786	Narrow foot	33/53	OMIM:154700
56937	PMEPA1	HP:0000470	Short neck	-	OMIM:121050
56937	PMEPA1	HP:0001763	Pes planus	27/53	OMIM:154700
56937	PMEPA1	HP:0001763	Pes planus	-	OMIM:182212
56937	PMEPA1	HP:0001765	Hammertoe	-	OMIM:154700
56937	PMEPA1	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
56937	PMEPA1	HP:0000418	Narrow nasal ridge	-	OMIM:130050
56937	PMEPA1	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
56937	PMEPA1	HP:0001762	Talipes equinovarus	-	OMIM:130050
56937	PMEPA1	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
56937	PMEPA1	HP:0001761	Pes cavus	49/146	OMIM:154700
56937	PMEPA1	HP:0000518	Cataract	118/199	OMIM:154700
56937	PMEPA1	HP:0001840	Metatarsus adductus	-	OMIM:121050
56937	PMEPA1	HP:0001840	Metatarsus adductus	-	OMIM:182212
56937	PMEPA1	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
56937	PMEPA1	HP:0001842	Foot acroosteolysis	-	OMIM:130050
56937	PMEPA1	HP:0000520	Proptosis	29/37	OMIM:182212
56937	PMEPA1	HP:0000506	Telecanthus	-	OMIM:182212
56937	PMEPA1	HP:0000508	Ptosis	16/37	OMIM:182212
56937	PMEPA1	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
56937	PMEPA1	HP:0000501	Glaucoma	29/625	OMIM:154700
56937	PMEPA1	HP:0000581	Blepharophimosis	-	OMIM:208050
56937	PMEPA1	HP:0000577	Exotropia	72/626	OMIM:154700
56937	PMEPA1	HP:0000586	Shallow orbits	13/37	OMIM:182212
56937	PMEPA1	HP:0000563	Keratoconus	-	OMIM:130050
56937	PMEPA1	HP:0000563	Keratoconus	3/14	OMIM:208050
56937	PMEPA1	HP:0011220	Prominent forehead	17/37	OMIM:182212
56937	PMEPA1	HP:0000565	Esotropia	12/573	OMIM:154700
56937	PMEPA1	HP:0000541	Retinal detachment	-	OMIM:154700
56937	PMEPA1	HP:0001883	Talipes	13/53	OMIM:154700
56937	PMEPA1	HP:0000545	Myopia	-	OMIM:121050
56937	PMEPA1	HP:0000545	Myopia	6/15	OMIM:208050
56937	PMEPA1	HP:0000545	Myopia	93/251	OMIM:154700
56937	PMEPA1	HP:0000545	Myopia	9/37	OMIM:182212
56945	MRPS22	HP:0001166	Arachnodactyly	HP:0040284	ORPHA:243
56945	MRPS22	HP:0009888	Abnormality of secondary sexual hair	HP:0040281	ORPHA:243
56945	MRPS22	HP:0001290	Generalized hypotonia	3/3	OMIM:611719
56945	MRPS22	HP:0001250	Seizure	-	OMIM:611719
56945	MRPS22	HP:0001252	Hypotonia	-	OMIM:611719
56945	MRPS22	HP:0001251	Ataxia	HP:0040284	ORPHA:243
56945	MRPS22	HP:0001263	Global developmental delay	-	OMIM:611719
56945	MRPS22	HP:0008684	Aplasia/hypoplasia of the uterus	HP:0040282	ORPHA:243
56945	MRPS22	HP:0002510	Spastic tetraplegia	-	OMIM:611719
56945	MRPS22	HP:0000091	Abnormal renal tubule morphology	-	OMIM:611719
56945	MRPS22	HP:0000062	Ambiguous genitalia	-	ORPHA:243
56945	MRPS22	HP:0000013	Hypoplasia of the uterus	-	OMIM:618117
56945	MRPS22	HP:0000007	Autosomal recessive inheritance	-	OMIM:611719
56945	MRPS22	HP:0000007	Autosomal recessive inheritance	-	OMIM:618117
56945	MRPS22	HP:0000144	Decreased fertility	HP:0040281	ORPHA:243
56945	MRPS22	HP:0008936	Axial hypotonia	-	OMIM:611719
56945	MRPS22	HP:0000133	Gonadal dysgenesis	HP:0040280	ORPHA:243
56945	MRPS22	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:243
56945	MRPS22	HP:0002750	Delayed skeletal maturation	-	OMIM:618117
56945	MRPS22	HP:0005989	Redundant neck skin	-	OMIM:611719
56945	MRPS22	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:611719
56945	MRPS22	HP:0010464	Streak ovary	HP:0040282	ORPHA:243
56945	MRPS22	HP:0002151	Increased circulating lactate concentration	-	OMIM:611719
56945	MRPS22	HP:0011924	Decreased activity of mitochondrial complex III	1/1	OMIM:611719
56945	MRPS22	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	1/1	OMIM:611719
56945	MRPS22	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:611719
56945	MRPS22	HP:0008232	Elevated circulating follicle stimulating hormone level	3/4	OMIM:618117
56945	MRPS22	HP:0008209	Premature ovarian insufficiency	HP:0040280	ORPHA:243
56945	MRPS22	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:243
56945	MRPS22	HP:0008214	Decreased serum estradiol	3/4	OMIM:618117
56945	MRPS22	HP:0003577	Congenital onset	-	OMIM:611719
56945	MRPS22	HP:0002225	Sparse pubic hair	HP:0040282	ORPHA:243
56945	MRPS22	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:243
56945	MRPS22	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:611719
56945	MRPS22	HP:0011969	Elevated circulating luteinizing hormone level	3/4	OMIM:618117
56945	MRPS22	HP:0002352	Leukoencephalopathy	-	OMIM:611719
56945	MRPS22	HP:0003621	Juvenile onset	4/4	OMIM:618117
56945	MRPS22	HP:0001942	Metabolic acidosis	-	OMIM:611719
56945	MRPS22	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040283	ORPHA:243
56945	MRPS22	HP:0001987	Hyperammonemia	3/3	OMIM:611719
56945	MRPS22	HP:0004322	Short stature	HP:0040283	ORPHA:243
56945	MRPS22	HP:0005625	Osteoporosis of vertebrae	HP:0040282	ORPHA:243
56945	MRPS22	HP:0030674	Antenatal onset	-	OMIM:611719
56945	MRPS22	HP:0034197	Third trimester onset	3/3	OMIM:611719
56945	MRPS22	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:243
56945	MRPS22	HP:0000786	Primary amenorrhea	-	OMIM:618117
56945	MRPS22	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:243
56945	MRPS22	HP:0003128	Lactic acidosis	3/3	OMIM:611719
56945	MRPS22	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:243
56945	MRPS22	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:243
56945	MRPS22	HP:0000823	Delayed puberty	-	OMIM:618117
56945	MRPS22	HP:0000823	Delayed puberty	HP:0040281	ORPHA:243
56945	MRPS22	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:243
56945	MRPS22	HP:0000969	Edema	-	OMIM:611719
56945	MRPS22	HP:0000938	Osteopenia	HP:0040282	ORPHA:243
56945	MRPS22	HP:0000278	Retrognathia	-	OMIM:611719
56945	MRPS22	HP:0000252	Microcephaly	-	OMIM:611719
56945	MRPS22	HP:0000252	Microcephaly	HP:0040284	ORPHA:243
56945	MRPS22	HP:0001522	Death in infancy	-	OMIM:611719
56945	MRPS22	HP:0001541	Ascites	-	OMIM:611719
56945	MRPS22	HP:0001510	Growth delay	-	OMIM:611719
56945	MRPS22	HP:0025672	Fetal skin edema	3/3	OMIM:611719
56945	MRPS22	HP:0000365	Hearing impairment	HP:0040283	ORPHA:243
56945	MRPS22	HP:0000358	Posteriorly rotated ears	-	OMIM:611719
56945	MRPS22	HP:0000369	Low-set ears	-	OMIM:611719
56945	MRPS22	HP:0001639	Hypertrophic cardiomyopathy	3/3	OMIM:611719
56945	MRPS22	HP:0012448	Delayed myelination	-	OMIM:611719
56947	MFF	HP:0025112	Auditory sensitivity	HP:0040282	ORPHA:485421
56947	MFF	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:485421
56947	MFF	HP:0001272	Cerebellar atrophy	2/3	OMIM:617086
56947	MFF	HP:0001270	Motor delay	HP:0040282	ORPHA:485421
56947	MFF	HP:0001270	Motor delay	4/4	OMIM:617086
56947	MFF	HP:0001250	Seizure	HP:0040282	ORPHA:485421
56947	MFF	HP:0001250	Seizure	3/4	OMIM:617086
56947	MFF	HP:0001252	Hypotonia	3/3	OMIM:617086
56947	MFF	HP:0001263	Global developmental delay	-	OMIM:617086
56947	MFF	HP:0001257	Spasticity	HP:0040282	ORPHA:485421
56947	MFF	HP:0001257	Spasticity	4/4	OMIM:617086
56947	MFF	HP:0002540	Inability to walk	-	OMIM:617086
56947	MFF	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:485421
56947	MFF	HP:0002521	Hypsarrhythmia	3/3	OMIM:617086
56947	MFF	HP:0003819	Death in childhood	1/4	OMIM:617086
56947	MFF	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:485421
56947	MFF	HP:0001347	Hyperreflexia	4/4	OMIM:617086
56947	MFF	HP:0012087	Abnormal mitochondrial shape	HP:0040282	ORPHA:485421
56947	MFF	HP:0001324	Muscle weakness	HP:0040282	ORPHA:485421
56947	MFF	HP:0001324	Muscle weakness	3/3	OMIM:617086
56947	MFF	HP:0001344	Absent speech	3/4	OMIM:617086
56947	MFF	HP:0000007	Autosomal recessive inheritance	-	OMIM:617086
56947	MFF	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:485421
56947	MFF	HP:0002015	Dysphagia	HP:0040282	ORPHA:485421
56947	MFF	HP:0002015	Dysphagia	3/3	OMIM:617086
56947	MFF	HP:0040288	Nasogastric tube feeding	HP:0040282	ORPHA:485421
56947	MFF	HP:0003593	Infantile onset	4/4	OMIM:617086
56947	MFF	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:485421
56947	MFF	HP:0002376	Developmental regression	HP:0040282	ORPHA:485421
56947	MFF	HP:0002376	Developmental regression	3/3	OMIM:617086
56947	MFF	HP:0003676	Progressive	-	OMIM:617086
56947	MFF	HP:0002353	EEG abnormality	HP:0040282	ORPHA:485421
56947	MFF	HP:0009830	Peripheral neuropathy	-	OMIM:617086
56947	MFF	HP:0000649	Abnormality of visual evoked potentials	HP:0040282	ORPHA:485421
56947	MFF	HP:0000648	Optic atrophy	HP:0040282	ORPHA:485421
56947	MFF	HP:0000648	Optic atrophy	-	OMIM:617086
56947	MFF	HP:0012696	Abnormal thalamic MRI signal intensity	HP:0040282	ORPHA:485421
56947	MFF	HP:0004302	Functional motor deficit	HP:0040282	ORPHA:485421
56947	MFF	HP:0012751	Abnormal basal ganglia MRI signal intensity	HP:0040282	ORPHA:485421
56947	MFF	HP:0000758	Abnormal nonverbal communicative behavior	HP:0040282	ORPHA:485421
56947	MFF	HP:0012736	Profound global developmental delay	HP:0040282	ORPHA:485421
56947	MFF	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:485421
56947	MFF	HP:0001510	Growth delay	HP:0040283	ORPHA:485421
56947	MFF	HP:0001510	Growth delay	1/3	OMIM:617086
56947	MFF	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:485421
56947	MFF	HP:0011097	Epileptic spasm	2/4	OMIM:617086
56947	MFF	HP:0005484	Secondary microcephaly	HP:0040282	ORPHA:485421
56947	MFF	HP:0005484	Secondary microcephaly	4/4	OMIM:617086
56947	MFF	HP:0000505	Visual impairment	HP:0040282	ORPHA:485421
56947	MFF	HP:0000505	Visual impairment	3/4	OMIM:617086
56947	MFF	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:485421
56947	MFF	HP:0000543	Optic disc pallor	3/4	OMIM:617086
56947	MFF	HP:0000544	External ophthalmoplegia	3/4	OMIM:617086
56947	MFF	HP:0000544	External ophthalmoplegia	HP:0040282	ORPHA:485421
56975	FAM20C	HP:0001156	Brachydactyly	HP:0040283	OMIM:259775
56975	FAM20C	HP:0009939	Mandibular aplasia	HP:0040282	ORPHA:1832
56975	FAM20C	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
56975	FAM20C	HP:0001293	Cranial nerve compression	-	OMIM:131300
56975	FAM20C	HP:0001252	Hypotonia	2/7	OMIM:615777
56975	FAM20C	HP:0001249	Intellectual disability	5/7	OMIM:615777
56975	FAM20C	HP:0001263	Global developmental delay	-	OMIM:259775
56975	FAM20C	HP:0001263	Global developmental delay	-	OMIM:615777
56975	FAM20C	HP:0002553	Highly arched eyebrow	HP:0040283	OMIM:259775
56975	FAM20C	HP:0002515	Waddling gait	54/102	OMIM:131300
56975	FAM20C	HP:0002514	Cerebral calcification	3/4	OMIM:259775
56975	FAM20C	HP:0003811	Neonatal death	-	OMIM:259775
56975	FAM20C	HP:0000072	Hydroureter	HP:0040283	OMIM:259775
56975	FAM20C	HP:0001382	Joint hypermobility	-	OMIM:615777
56975	FAM20C	HP:0002694	Sclerosis of skull base	-	OMIM:131300
56975	FAM20C	HP:0001357	Plagiocephaly	HP:0040283	OMIM:259775
56975	FAM20C	HP:0008897	Postnatal growth retardation	-	OMIM:615777
56975	FAM20C	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
56975	FAM20C	HP:0001324	Muscle weakness	40/96	OMIM:131300
56975	FAM20C	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
56975	FAM20C	HP:0000007	Autosomal recessive inheritance	-	OMIM:259775
56975	FAM20C	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
56975	FAM20C	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
56975	FAM20C	HP:0002650	Scoliosis	12/14	OMIM:131300
56975	FAM20C	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
56975	FAM20C	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
56975	FAM20C	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
56975	FAM20C	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
56975	FAM20C	HP:0000160	Narrow mouth	-	OMIM:259775
56975	FAM20C	HP:0000175	Cleft palate	-	OMIM:259775
56975	FAM20C	HP:0000175	Cleft palate	2/7	OMIM:615777
56975	FAM20C	HP:0000169	Gingival fibromatosis	HP:0040282	ORPHA:1832
56975	FAM20C	HP:0000154	Wide mouth	HP:0040283	OMIM:259775
56975	FAM20C	HP:0006297	Enamel hypoplasia	HP:0040283	OMIM:259775
56975	FAM20C	HP:0000126	Hydronephrosis	HP:0040283	OMIM:259775
56975	FAM20C	HP:0011800	Midface retrusion	-	OMIM:259775
56975	FAM20C	HP:0002089	Pulmonary hypoplasia	4/7	OMIM:259775
56975	FAM20C	HP:0002098	Respiratory distress	HP:0040282	ORPHA:1832
56975	FAM20C	HP:0002094	Dyspnea	HP:0040282	ORPHA:1832
56975	FAM20C	HP:0003388	Easy fatigability	36/76	OMIM:131300
56975	FAM20C	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
56975	FAM20C	HP:0002148	Hypophosphatemia	-	OMIM:259775
56975	FAM20C	HP:0003577	Congenital onset	7/7	OMIM:259775
56975	FAM20C	HP:0003510	Severe short stature	7/7	OMIM:615777
56975	FAM20C	HP:0002315	Headache	-	OMIM:131300
56975	FAM20C	HP:0004976	Knee dislocation	6/7	OMIM:615777
56975	FAM20C	HP:0010808	Protruding tongue	-	OMIM:259775
56975	FAM20C	HP:0009803	Short phalanx of finger	-	OMIM:615777
56975	FAM20C	HP:0009763	Limb pain	63/92	OMIM:131300
56975	FAM20C	HP:0003621	Juvenile onset	-	OMIM:131300
56975	FAM20C	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
56975	FAM20C	HP:0009099	Median cleft palate	HP:0040281	ORPHA:1832
56975	FAM20C	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
56975	FAM20C	HP:6001056	Out-toeing	-	OMIM:131300
56975	FAM20C	HP:0000651	Diplopia	-	OMIM:131300
56975	FAM20C	HP:0001956	Truncal obesity	2/7	OMIM:615777
56975	FAM20C	HP:0001903	Anemia	HP:0040283	OMIM:131300
56975	FAM20C	HP:0010049	Short metacarpal	-	OMIM:615777
56975	FAM20C	HP:0000678	Dental crowding	-	OMIM:615777
56975	FAM20C	HP:0000695	Natal tooth	HP:0040283	OMIM:259775
56975	FAM20C	HP:0000691	Microdontia	HP:0040283	OMIM:259775
56975	FAM20C	HP:0000670	Carious teeth	-	OMIM:131300
56975	FAM20C	HP:0011304	Broad thumb	2/7	OMIM:615777
56975	FAM20C	HP:0000668	Hypodontia	-	OMIM:615777
56975	FAM20C	HP:0000664	Synophrys	-	OMIM:615777
56975	FAM20C	HP:0004322	Short stature	-	OMIM:259775
56975	FAM20C	HP:0004396	Poor appetite	-	OMIM:131300
56975	FAM20C	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
56975	FAM20C	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
56975	FAM20C	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
56975	FAM20C	HP:0003026	Short long bone	7/7	OMIM:615777
56975	FAM20C	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
56975	FAM20C	HP:0000767	Pectus excavatum	HP:0040283	OMIM:259775
56975	FAM20C	HP:0000767	Pectus excavatum	2/7	OMIM:615777
56975	FAM20C	HP:0000768	Pectus carinatum	1/7	OMIM:615777
56975	FAM20C	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
56975	FAM20C	HP:0000750	Delayed speech and language development	-	OMIM:615777
56975	FAM20C	HP:0011461	Fetal onset	7/7	OMIM:615777
56975	FAM20C	HP:0000774	Narrow chest	2/7	OMIM:615777
56975	FAM20C	HP:0003196	Short nose	HP:0040282	ORPHA:1832
56975	FAM20C	HP:0003196	Short nose	-	OMIM:259775
56975	FAM20C	HP:0000926	Platyspondyly	1/7	OMIM:615777
56975	FAM20C	HP:0003180	Flat acetabular roof	-	OMIM:615777
56975	FAM20C	HP:0003155	Elevated circulating alkaline phosphatase concentration	-	OMIM:259775
56975	FAM20C	HP:0004482	Relative macrocephaly	-	OMIM:615777
56975	FAM20C	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
56975	FAM20C	HP:0000823	Delayed puberty	-	OMIM:131300
56975	FAM20C	HP:0000894	Short clavicles	-	OMIM:615777
56975	FAM20C	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
56975	FAM20C	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
56975	FAM20C	HP:0000286	Epicanthus	1/7	OMIM:615777
56975	FAM20C	HP:0000280	Coarse facial features	2/7	OMIM:615777
56975	FAM20C	HP:0000278	Retrognathia	HP:0040281	ORPHA:1832
56975	FAM20C	HP:0000270	Delayed cranial suture closure	HP:0040281	ORPHA:1832
56975	FAM20C	HP:0000272	Malar flattening	-	OMIM:259775
56975	FAM20C	HP:0002827	Hip dislocation	3/7	OMIM:615777
56975	FAM20C	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	OMIM:259775
56975	FAM20C	HP:0000244	Brachyturricephaly	-	OMIM:259775
56975	FAM20C	HP:0000239	Large fontanelles	HP:0040281	ORPHA:1832
56975	FAM20C	HP:0000239	Large fontanelles	-	OMIM:259775
56975	FAM20C	HP:0000238	Hydrocephalus	HP:0040283	OMIM:259775
56975	FAM20C	HP:0000252	Microcephaly	HP:0040281	ORPHA:1832
56975	FAM20C	HP:0000252	Microcephaly	-	OMIM:259775
56975	FAM20C	HP:0000252	Microcephaly	-	OMIM:615777
56975	FAM20C	HP:0000248	Brachycephaly	-	OMIM:259775
56975	FAM20C	HP:0002878	Respiratory failure	HP:0040282	ORPHA:1832
56975	FAM20C	HP:0000218	High palate	-	OMIM:259775
56975	FAM20C	HP:0000212	Gingival overgrowth	-	OMIM:259775
56975	FAM20C	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:1832
56975	FAM20C	HP:0002857	Genu valgum	-	OMIM:131300
56975	FAM20C	HP:0001522	Death in infancy	7/7	OMIM:259775
56975	FAM20C	HP:0001533	Slender build	-	OMIM:131300
56975	FAM20C	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1832
56975	FAM20C	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
56975	FAM20C	HP:0007807	Optic nerve compression	-	OMIM:131300
56975	FAM20C	HP:0012368	Flat face	7/7	OMIM:615777
56975	FAM20C	HP:0000377	Abnormal pinna morphology	HP:0040283	OMIM:259775
56975	FAM20C	HP:0005257	Thoracic hypoplasia	6/7	OMIM:259775
56975	FAM20C	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
56975	FAM20C	HP:0006487	Bowing of the long bones	HP:0040283	OMIM:259775
56975	FAM20C	HP:0000365	Hearing impairment	10/67	OMIM:131300
56975	FAM20C	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:1832
56975	FAM20C	HP:0000358	Posteriorly rotated ears	HP:0040283	OMIM:259775
56975	FAM20C	HP:0000369	Low-set ears	HP:0040281	ORPHA:1832
56975	FAM20C	HP:0000369	Low-set ears	-	OMIM:259775
56975	FAM20C	HP:0000343	Long philtrum	1/7	OMIM:615777
56975	FAM20C	HP:0011001	Increased bone mineral density	7/7	OMIM:259775
56975	FAM20C	HP:0011001	Increased bone mineral density	-	OMIM:131300
56975	FAM20C	HP:0000347	Micrognathia	HP:0040281	ORPHA:1832
56975	FAM20C	HP:0000347	Micrognathia	-	OMIM:259775
56975	FAM20C	HP:0002983	Micromelia	HP:0040283	OMIM:259775
56975	FAM20C	HP:0000316	Hypertelorism	-	OMIM:259775
56975	FAM20C	HP:0000311	Round face	2/7	OMIM:615777
56975	FAM20C	HP:0031485	Subperiosteal bone formation	7/7	OMIM:259775
56975	FAM20C	HP:0002970	Genu varum	-	OMIM:615777
56975	FAM20C	HP:0000303	Mandibular prognathia	-	OMIM:131300
56975	FAM20C	HP:0000303	Mandibular prognathia	HP:0040283	OMIM:259775
56975	FAM20C	HP:0005280	Depressed nasal bridge	-	OMIM:259775
56975	FAM20C	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
56975	FAM20C	HP:0000494	Downslanted palpebral fissures	-	OMIM:259775
56975	FAM20C	HP:0000463	Anteverted nares	HP:0040281	ORPHA:1832
56975	FAM20C	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:1832
56975	FAM20C	HP:0000470	Short neck	HP:0040281	ORPHA:1832
56975	FAM20C	HP:0000470	Short neck	-	OMIM:259775
56975	FAM20C	HP:0000470	Short neck	1/7	OMIM:615777
56975	FAM20C	HP:0001769	Broad foot	HP:0040283	OMIM:615777
56975	FAM20C	HP:0001763	Pes planus	1/7	OMIM:615777
56975	FAM20C	HP:0000453	Choanal atresia	-	OMIM:259775
56975	FAM20C	HP:0000452	Choanal stenosis	-	OMIM:259775
56975	FAM20C	HP:0000411	Protruding ear	HP:0040283	OMIM:259775
56975	FAM20C	HP:0000410	Mixed hearing impairment	HP:0040283	OMIM:259775
56975	FAM20C	HP:0001847	Long hallux	HP:0040283	OMIM:259775
56975	FAM20C	HP:0001840	Metatarsus adductus	-	OMIM:615777
56975	FAM20C	HP:0000520	Proptosis	2/4	OMIM:131300
56975	FAM20C	HP:0000520	Proptosis	HP:0040282	ORPHA:1832
56975	FAM20C	HP:0000520	Proptosis	-	OMIM:259775
56975	FAM20C	HP:0000520	Proptosis	7/7	OMIM:615777
56975	FAM20C	HP:0000592	Blue sclerae	2/7	OMIM:615777
56975	FAM20C	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
56975	FAM20C	HP:0012514	Lower limb pain	4/4	OMIM:131300
56978	PRDM8	HP:0002497	Spastic ataxia	-	OMIM:616640
56978	PRDM8	HP:0001268	Mental deterioration	HP:0040283	ORPHA:324290
56978	PRDM8	HP:0001289	Confusion	HP:0040283	ORPHA:324290
56978	PRDM8	HP:0001285	Spastic tetraparesis	HP:0040283	ORPHA:324290
56978	PRDM8	HP:0001250	Seizure	HP:0040283	ORPHA:324290
56978	PRDM8	HP:0001250	Seizure	-	OMIM:616640
56978	PRDM8	HP:0001251	Ataxia	HP:0040283	ORPHA:324290
56978	PRDM8	HP:0001251	Ataxia	-	OMIM:616640
56978	PRDM8	HP:0001260	Dysarthria	-	OMIM:616640
56978	PRDM8	HP:0001260	Dysarthria	HP:0040282	ORPHA:324290
56978	PRDM8	HP:0001257	Spasticity	-	OMIM:616640
56978	PRDM8	HP:0003828	Variable expressivity	-	OMIM:616640
56978	PRDM8	HP:0002510	Spastic tetraplegia	-	OMIM:616640
56978	PRDM8	HP:0000020	Urinary incontinence	-	OMIM:616640
56978	PRDM8	HP:0001347	Hyperreflexia	-	OMIM:616640
56978	PRDM8	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:324290
56978	PRDM8	HP:0000007	Autosomal recessive inheritance	-	OMIM:616640
56978	PRDM8	HP:0001336	Myoclonus	-	OMIM:616640
56978	PRDM8	HP:0001336	Myoclonus	HP:0040281	ORPHA:324290
56978	PRDM8	HP:0100543	Cognitive impairment	-	OMIM:616640
56978	PRDM8	HP:0002073	Progressive cerebellar ataxia	-	OMIM:616640
56978	PRDM8	HP:0002123	Generalized myoclonic seizure	-	OMIM:616640
56978	PRDM8	HP:0011999	Paranoia	-	OMIM:616640
56978	PRDM8	HP:0011999	Paranoia	HP:0040284	ORPHA:324290
56978	PRDM8	HP:0003676	Progressive	-	OMIM:616640
56978	PRDM8	HP:0002300	Mutism	-	OMIM:616640
56978	PRDM8	HP:0002300	Mutism	HP:0040283	ORPHA:324290
56978	PRDM8	HP:0000738	Hallucinations	-	OMIM:616640
56978	PRDM8	HP:0000726	Dementia	-	OMIM:616640
56978	PRDM8	HP:0000709	Psychosis	-	OMIM:616640
56978	PRDM8	HP:0000708	Atypical behavior	HP:0040282	ORPHA:324290
56978	PRDM8	HP:0100318	Lafora bodies	HP:0040281	ORPHA:324290
56978	PRDM8	HP:0100318	Lafora bodies	-	OMIM:616640
56980	PRDM10	HP:0032225	Perifollicular fibroma	5/7	OMIM:620459
56980	PRDM10	HP:0000006	Autosomal dominant inheritance	-	OMIM:620459
56980	PRDM10	HP:0032445	Pulmonary cyst	0/3	OMIM:620459
56980	PRDM10	HP:0002097	Emphysema	HP:0040281	ORPHA:122
56980	PRDM10	HP:0002107	Pneumothorax	HP:0040283	ORPHA:122
56980	PRDM10	HP:0010609	Skin tags	HP:0040281	ORPHA:122
56980	PRDM10	HP:0001012	Multiple lipomas	HP:0040282	ORPHA:122
56980	PRDM10	HP:0001012	Multiple lipomas	7/7	OMIM:620459
56980	PRDM10	HP:0200034	Papule	HP:0040281	ORPHA:122
56980	PRDM10	HP:0100632	Pulmonary sequestration	HP:0040282	ORPHA:122
56980	PRDM10	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:122
56980	PRDM10	HP:0011462	Young adult onset	1/1	OMIM:620459
56980	PRDM10	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:122
56980	PRDM10	HP:0002897	Parathyroid adenoma	HP:0040283	ORPHA:122
56980	PRDM10	HP:0002865	Medullary thyroid carcinoma	HP:0040283	ORPHA:122
56980	PRDM10	HP:0030436	Fibrofolliculoma	5/7	OMIM:620459
56980	PRDM10	HP:0006770	Clear cell renal cell carcinoma	3/7	OMIM:620459
56983	POGLUT1	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:79145
56983	POGLUT1	HP:0025114	Hypergranulosis	-	OMIM:615696
56983	POGLUT1	HP:0001231	Abnormal fingernail morphology	HP:0040283	ORPHA:79145
56983	POGLUT1	HP:0002505	Loss of ambulation	2/4	OMIM:617232
56983	POGLUT1	HP:0032341	Reduced forced vital capacity	2/4	OMIM:617232
56983	POGLUT1	HP:0001369	Arthritis	HP:0040284	ORPHA:79145
56983	POGLUT1	HP:0007456	Progressive reticulate hyperpigmentation	HP:0040281	ORPHA:79145
56983	POGLUT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617232
56983	POGLUT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615696
56983	POGLUT1	HP:0025473	Hyperpigmented papule	HP:0040283	ORPHA:79145
56983	POGLUT1	HP:0008994	Proximal muscle weakness in lower limbs	4/4	OMIM:617232
56983	POGLUT1	HP:0031293	Digital pitting scar	HP:0040283	ORPHA:79145
56983	POGLUT1	HP:0002093	Respiratory insufficiency	-	OMIM:617232
56983	POGLUT1	HP:0002091	Restrictive ventilatory defect	2/4	OMIM:617232
56983	POGLUT1	HP:0002046	Heat intolerance	HP:0040283	ORPHA:79145
56983	POGLUT1	HP:0003581	Adult onset	-	OMIM:615696
56983	POGLUT1	HP:0010610	Palmar pits	HP:0040284	ORPHA:79145
56983	POGLUT1	HP:0020073	Hypopigmented macule	HP:0040284	ORPHA:79145
56983	POGLUT1	HP:0001034	Hypermelanotic macule	HP:0040283	ORPHA:79145
56983	POGLUT1	HP:0003691	Scapular winging	4/4	OMIM:617232
56983	POGLUT1	HP:0003677	Slowly progressive	-	OMIM:617232
56983	POGLUT1	HP:0025092	Epidermal acanthosis	-	OMIM:615696
56983	POGLUT1	HP:0200037	Skin vesicle	HP:0040284	ORPHA:79145
56983	POGLUT1	HP:0200034	Papule	-	OMIM:615696
56983	POGLUT1	HP:0200040	Epidermoid cyst	HP:0040284	ORPHA:79145
56983	POGLUT1	HP:0011354	Generalized abnormality of skin	HP:0040284	ORPHA:79145
56983	POGLUT1	HP:0011462	Young adult onset	4/4	OMIM:617232
56983	POGLUT1	HP:0009123	Mixed hypo- and hyperpigmentation of the skin	HP:0040284	ORPHA:79145
56983	POGLUT1	HP:0012855	Scrotal hyperpigmentation	HP:0040283	ORPHA:79145
56983	POGLUT1	HP:0003236	Elevated circulating creatine kinase concentration	1/4	OMIM:617232
56983	POGLUT1	HP:0030877	Reduced FEV1/FVC ratio	3/4	OMIM:617232
56983	POGLUT1	HP:0003202	Skeletal muscle atrophy	1/1	OMIM:617232
56983	POGLUT1	HP:0045059	Hyperkeratotic papule	HP:0040283	ORPHA:79145
56983	POGLUT1	HP:0000989	Pruritus	HP:0040283	ORPHA:79145
56983	POGLUT1	HP:0000989	Pruritus	-	OMIM:615696
56983	POGLUT1	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:79145
56983	POGLUT1	HP:0040154	Acne inversa	HP:0040283	ORPHA:79145
56983	POGLUT1	HP:0030052	Inguinal freckling	HP:0040282	ORPHA:79145
56983	POGLUT1	HP:0031525	Keratoacanthoma	HP:0040284	ORPHA:79145
56983	POGLUT1	HP:0006536	Airway obstruction	1/4	OMIM:617232
56983	POGLUT1	HP:0031447	Penile freckling	HP:0040283	ORPHA:79145
56983	POGLUT1	HP:0000464	Abnormality of the neck	HP:0040282	ORPHA:79145
56983	POGLUT1	HP:0030442	Anal margin squamous cell carcinoma	HP:0040284	ORPHA:79145
56983	POGLUT1	HP:0006785	Limb-girdle muscular dystrophy	4/4	OMIM:617232
56983	POGLUT1	HP:0030350	Erythematous papule	HP:0040283	ORPHA:79145
56983	POGLUT1	HP:0012548	Fatty replacement of skeletal muscle	4/4	OMIM:617232
56984	PSMG2	HP:0001270	Motor delay	1/1	OMIM:619183
56984	PSMG2	HP:0001371	Flexion contracture	1/1	OMIM:619183
56984	PSMG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619183
56984	PSMG2	HP:0002716	Lymphadenopathy	1/1	OMIM:619183
56984	PSMG2	HP:0002135	Basal ganglia calcification	1/1	OMIM:619183
56984	PSMG2	HP:0003593	Infantile onset	1/1	OMIM:619183
56984	PSMG2	HP:0002240	Hepatomegaly	1/1	OMIM:619183
56984	PSMG2	HP:0033331	Acute phase response	1/1	OMIM:619183
56984	PSMG2	HP:0100614	Myositis	1/1	OMIM:619183
56984	PSMG2	HP:0010783	Erythema	1/1	OMIM:619183
56984	PSMG2	HP:0001954	Recurrent fever	1/1	OMIM:619183
56984	PSMG2	HP:0009064	Generalized lipodystrophy	1/1	OMIM:619183
56984	PSMG2	HP:0000750	Delayed speech and language development	1/1	OMIM:619183
56984	PSMG2	HP:0003202	Skeletal muscle atrophy	1/1	OMIM:619183
56984	PSMG2	HP:0000969	Edema	1/1	OMIM:619183
56984	PSMG2	HP:0012490	Panniculitis	1/1	OMIM:619183
56984	PSMG2	HP:0001744	Splenomegaly	1/1	OMIM:619183
56984	PSMG2	HP:0001890	Autoimmune hemolytic anemia	1/1	OMIM:619183
56992	KIF15	HP:0001156	Brachydactyly	HP:0040282	ORPHA:261323
56992	KIF15	HP:0002465	Poor speech	HP:0040283	ORPHA:261323
56992	KIF15	HP:0001106	Periorbital hyperpigmentation	HP:0040283	ORPHA:261323
56992	KIF15	HP:0008551	Microtia	HP:0040283	ORPHA:261323
56992	KIF15	HP:0003763	Bruxism	HP:0040283	ORPHA:261323
56992	KIF15	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:261323
56992	KIF15	HP:0001250	Seizure	HP:0040282	ORPHA:261323
56992	KIF15	HP:0001249	Intellectual disability	HP:0040282	ORPHA:261323
56992	KIF15	HP:0002557	Hypoplastic nipples	HP:0040283	ORPHA:261323
56992	KIF15	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:261323
56992	KIF15	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:261323
56992	KIF15	HP:0001344	Absent speech	HP:0040282	ORPHA:261323
56992	KIF15	HP:0000007	Autosomal recessive inheritance	-	OMIM:619981
56992	KIF15	HP:0012172	Stereotypical body rocking	HP:0040283	ORPHA:261323
56992	KIF15	HP:0000179	Thick lower lip vermilion	HP:0040283	ORPHA:261323
56992	KIF15	HP:0000175	Cleft palate	1/1	OMIM:619981
56992	KIF15	HP:0000154	Wide mouth	1/1	OMIM:619981
56992	KIF15	HP:0008947	Floppy infant	HP:0040283	ORPHA:261323
56992	KIF15	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:261323
56992	KIF15	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:261323
56992	KIF15	HP:0011800	Midface retrusion	HP:0040283	ORPHA:261323
56992	KIF15	HP:0009597	Short proximal phalanx of the 2nd finger	HP:0040283	ORPHA:261323
56992	KIF15	HP:0003577	Congenital onset	1/1	OMIM:619981
56992	KIF15	HP:0100703	Tongue thrusting	HP:0040283	ORPHA:261323
56992	KIF15	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:261323
56992	KIF15	HP:0008404	Nail dystrophy	HP:0040283	ORPHA:261323
56992	KIF15	HP:0002307	Drooling	HP:0040283	ORPHA:261323
56992	KIF15	HP:0005548	Megakaryocytopenia	1/1	OMIM:619981
56992	KIF15	HP:0001903	Anemia	HP:0040283	ORPHA:261323
56992	KIF15	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:261323
56992	KIF15	HP:0000678	Dental crowding	HP:0040283	ORPHA:261323
56992	KIF15	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:261323
56992	KIF15	HP:0004322	Short stature	HP:0040282	ORPHA:261323
56992	KIF15	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:261323
56992	KIF15	HP:0003086	Acromesomelia	HP:0040283	ORPHA:261323
56992	KIF15	HP:0012745	Short palpebral fissure	HP:0040283	ORPHA:261323
56992	KIF15	HP:0000752	Hyperactivity	HP:0040283	ORPHA:261323
56992	KIF15	HP:0000708	Atypical behavior	HP:0040282	ORPHA:261323
56992	KIF15	HP:0030799	Scaphocephaly	HP:0040283	ORPHA:261323
56992	KIF15	HP:0009226	Short proximal phalanx of the 5th finger	HP:0040283	ORPHA:261323
56992	KIF15	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	HP:0040283	ORPHA:261323
56992	KIF15	HP:0000958	Dry skin	HP:0040283	ORPHA:261323
56992	KIF15	HP:0000960	Sacral dimple	HP:0040283	ORPHA:261323
56992	KIF15	HP:0000280	Coarse facial features	HP:0040282	ORPHA:261323
56992	KIF15	HP:0000278	Retrognathia	1/1	OMIM:619981
56992	KIF15	HP:0030084	Clinodactyly	HP:0040282	ORPHA:261323
56992	KIF15	HP:0030084	Clinodactyly	1/1	OMIM:619981
56992	KIF15	HP:0000252	Microcephaly	HP:0040282	ORPHA:261323
56992	KIF15	HP:0000252	Microcephaly	1/1	OMIM:619981
56992	KIF15	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:261323
56992	KIF15	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:261323
56992	KIF15	HP:0000201	Pierre-Robin sequence	1/1	OMIM:619981
56992	KIF15	HP:0012385	Camptodactyly	HP:0040282	ORPHA:261323
56992	KIF15	HP:0007874	Almond-shaped palpebral fissure	HP:0040283	ORPHA:261323
56992	KIF15	HP:0000365	Hearing impairment	1/1	OMIM:619981
56992	KIF15	HP:0000369	Low-set ears	HP:0040283	ORPHA:261323
56992	KIF15	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:261323
56992	KIF15	HP:0000316	Hypertelorism	HP:0040283	ORPHA:261323
56992	KIF15	HP:0000311	Round face	HP:0040283	ORPHA:261323
56992	KIF15	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:261323
56992	KIF15	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:261323
56992	KIF15	HP:0030215	Inappropriate crying	HP:0040283	ORPHA:261323
56992	KIF15	HP:0000486	Strabismus	HP:0040283	ORPHA:261323
56992	KIF15	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:261323
56992	KIF15	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:619981
56992	KIF15	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:261323
56992	KIF15	HP:0001792	Small nail	HP:0040282	ORPHA:261323
56992	KIF15	HP:0000463	Anteverted nares	HP:0040283	ORPHA:261323
56992	KIF15	HP:0000414	Bulbous nose	HP:0040282	ORPHA:261323
56992	KIF15	HP:0000414	Bulbous nose	1/1	OMIM:619981
56992	KIF15	HP:0000413	Atresia of the external auditory canal	1/1	OMIM:619981
56992	KIF15	HP:0000568	Microphthalmia	1/1	OMIM:619981
56992	KIF15	HP:0001873	Thrombocytopenia	1/1	OMIM:619981
56992	KIF15	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:261323
56997	COQ8A	HP:0002490	Increased CSF lactate	HP:0040283	ORPHA:139485
56997	COQ8A	HP:0002490	Increased CSF lactate	1/2	OMIM:612016
56997	COQ8A	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:139485
56997	COQ8A	HP:0007256	Abnormal pyramidal sign	HP:0040283	OMIM:612016
56997	COQ8A	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:139485
56997	COQ8A	HP:0003701	Proximal muscle weakness	1/2	OMIM:612016
56997	COQ8A	HP:0001272	Cerebellar atrophy	HP:0040281	ORPHA:139485
56997	COQ8A	HP:0001272	Cerebellar atrophy	2/2	OMIM:612016
56997	COQ8A	HP:0001250	Seizure	2/2	OMIM:612016
56997	COQ8A	HP:0001250	Seizure	HP:0040283	ORPHA:139485
56997	COQ8A	HP:0001252	Hypotonia	1/2	OMIM:612016
56997	COQ8A	HP:0001252	Hypotonia	HP:0040282	ORPHA:139485
56997	COQ8A	HP:0001251	Ataxia	2/2	OMIM:612016
56997	COQ8A	HP:0001249	Intellectual disability	HP:0040283	OMIM:612016
56997	COQ8A	HP:0001263	Global developmental delay	HP:0040283	OMIM:612016
56997	COQ8A	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:139485
56997	COQ8A	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:139485
56997	COQ8A	HP:0001347	Hyperreflexia	-	OMIM:612016
56997	COQ8A	HP:0001332	Dystonia	HP:0040284	ORPHA:139485
56997	COQ8A	HP:0000007	Autosomal recessive inheritance	-	OMIM:612016
56997	COQ8A	HP:0001337	Tremor	HP:0040283	ORPHA:139485
56997	COQ8A	HP:0001337	Tremor	HP:0040283	OMIM:612016
56997	COQ8A	HP:0001336	Myoclonus	HP:0040283	ORPHA:139485
56997	COQ8A	HP:0001336	Myoclonus	HP:0040283	OMIM:612016
56997	COQ8A	HP:0008936	Axial hypotonia	1/2	OMIM:612016
56997	COQ8A	HP:0004696	Talipes cavus equinovarus	HP:0040282	ORPHA:139485
56997	COQ8A	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:139485
56997	COQ8A	HP:0002151	Increased circulating lactate concentration	HP:0040283	ORPHA:139485
56997	COQ8A	HP:0002151	Increased circulating lactate concentration	1/2	OMIM:612016
56997	COQ8A	HP:0003457	EMG abnormality	HP:0040283	ORPHA:139485
56997	COQ8A	HP:0003593	Infantile onset	1/2	OMIM:612016
56997	COQ8A	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:139485
56997	COQ8A	HP:0003546	Exercise intolerance	-	OMIM:612016
56997	COQ8A	HP:0002376	Developmental regression	HP:0040282	ORPHA:139485
56997	COQ8A	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:139485
56997	COQ8A	HP:0010818	Generalized tonic seizure	1/2	OMIM:612016
56997	COQ8A	HP:0000771	Gynecomastia	HP:0040284	ORPHA:139485
56997	COQ8A	HP:0011463	Childhood onset	1/2	OMIM:612016
56997	COQ8A	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:139485
56997	COQ8A	HP:0012752	Focal T2 hypointense basal ganglia lesion	HP:0040282	ORPHA:139485
56997	COQ8A	HP:0003128	Lactic acidosis	HP:0040283	ORPHA:139485
56997	COQ8A	HP:0003128	Lactic acidosis	-	OMIM:612016
56997	COQ8A	HP:0012847	Epilepsia partialis continua	2/2	OMIM:612016
56997	COQ8A	HP:0034369	Decreased level of coenzyme Q10 in skeletal muscle	-	OMIM:612016
56997	COQ8A	HP:0012240	Increased intramyocellular lipid droplets	1/1	OMIM:612016
56997	COQ8A	HP:0032653	Elevated lactate:pyruvate ratio	1/2	OMIM:612016
56997	COQ8A	HP:0000365	Hearing impairment	HP:0040284	ORPHA:139485
56997	COQ8A	HP:0000486	Strabismus	HP:0040283	ORPHA:139485
56997	COQ8A	HP:0000486	Strabismus	1/2	OMIM:612016
56997	COQ8A	HP:0001761	Pes cavus	-	OMIM:612016
56997	COQ8A	HP:0000508	Ptosis	1/2	OMIM:612016
57003	CCDC47	HP:0020206	Simple ear	1/4	OMIM:618268
57003	CCDC47	HP:0001250	Seizure	1/3	OMIM:618268
57003	CCDC47	HP:0001252	Hypotonia	4/4	OMIM:618268
57003	CCDC47	HP:0001265	Hyporeflexia	2/4	OMIM:618268
57003	CCDC47	HP:0002557	Hypoplastic nipples	4/4	OMIM:618268
57003	CCDC47	HP:0002570	Steatorrhea	2/4	OMIM:618268
57003	CCDC47	HP:0001385	Hip dysplasia	3/3	OMIM:618268
57003	CCDC47	HP:0001382	Joint hypermobility	-	OMIM:618268
57003	CCDC47	HP:0001347	Hyperreflexia	2/4	OMIM:618268
57003	CCDC47	HP:0001357	Plagiocephaly	3/4	OMIM:618268
57003	CCDC47	HP:0033725	Thin corpus callosum	2/4	OMIM:618268
57003	CCDC47	HP:0001344	Absent speech	-	OMIM:618268
57003	CCDC47	HP:0000007	Autosomal recessive inheritance	-	OMIM:618268
57003	CCDC47	HP:0002650	Scoliosis	2/4	OMIM:618268
57003	CCDC47	HP:0001321	Cerebellar hypoplasia	1/4	OMIM:618268
57003	CCDC47	HP:0000158	Macroglossia	3/4	OMIM:618268
57003	CCDC47	HP:0000154	Wide mouth	2/4	OMIM:618268
57003	CCDC47	HP:0001410	Decreased liver function	-	OMIM:618268
57003	CCDC47	HP:0002719	Recurrent infections	2/4	OMIM:618268
57003	CCDC47	HP:0002714	Downturned corners of mouth	4/4	OMIM:618268
57003	CCDC47	HP:0002721	Immunodeficiency	2/4	OMIM:618268
57003	CCDC47	HP:0002020	Gastroesophageal reflux	3/3	OMIM:618268
57003	CCDC47	HP:0002028	Chronic diarrhea	1/4	OMIM:618268
57003	CCDC47	HP:0011800	Midface retrusion	3/4	OMIM:618268
57003	CCDC47	HP:0002059	Cerebral atrophy	4/4	OMIM:618268
57003	CCDC47	HP:0003438	Absent Achilles reflex	2/4	OMIM:618268
57003	CCDC47	HP:0011914	Thoracic hypertrichosis	4/4	OMIM:618268
57003	CCDC47	HP:0010536	Central sleep apnea	2/3	OMIM:618268
57003	CCDC47	HP:0010502	Fibular bowing	2/4	OMIM:618268
57003	CCDC47	HP:0002240	Hepatomegaly	2/4	OMIM:618268
57003	CCDC47	HP:0100704	Cerebral visual impairment	3/3	OMIM:618268
57003	CCDC47	HP:0002224	Woolly hair	-	OMIM:618268
57003	CCDC47	HP:0002212	Curly hair	-	OMIM:618268
57003	CCDC47	HP:0002208	Coarse hair	-	OMIM:618268
57003	CCDC47	HP:0010665	Bilateral coxa valga	2/3	OMIM:618268
57003	CCDC47	HP:0011968	Feeding difficulties	-	OMIM:618268
57003	CCDC47	HP:0002353	EEG abnormality	3/3	OMIM:618268
57003	CCDC47	HP:0001081	Cholelithiasis	2/4	OMIM:618268
57003	CCDC47	HP:0004209	Clinodactyly of the 5th finger	4/4	OMIM:618268
57003	CCDC47	HP:0011344	Severe global developmental delay	4/4	OMIM:618268
57003	CCDC47	HP:0000678	Dental crowding	-	OMIM:618268
57003	CCDC47	HP:0000691	Microdontia	-	OMIM:618268
57003	CCDC47	HP:0000687	Widely spaced teeth	-	OMIM:618268
57003	CCDC47	HP:0000656	Ectropion	2/4	OMIM:618268
57003	CCDC47	HP:0000664	Synophrys	3/4	OMIM:618268
57003	CCDC47	HP:0004325	Decreased body weight	4/4	OMIM:618268
57003	CCDC47	HP:0005684	Distal arthrogryposis	-	OMIM:618268
57003	CCDC47	HP:0000767	Pectus excavatum	HP:0040284	OMIM:618268
57003	CCDC47	HP:0100027	Recurrent pancreatitis	1/3	OMIM:618268
57003	CCDC47	HP:0000774	Narrow chest	2/4	OMIM:618268
57003	CCDC47	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/4	OMIM:618268
57003	CCDC47	HP:0000821	Hypothyroidism	1/3	OMIM:618268
57003	CCDC47	HP:0000989	Pruritus	4/4	OMIM:618268
57003	CCDC47	HP:0000286	Epicanthus	1/4	OMIM:618268
57003	CCDC47	HP:0000280	Coarse facial features	4/4	OMIM:618268
57003	CCDC47	HP:0002827	Hip dislocation	2/3	OMIM:618268
57003	CCDC47	HP:0000252	Microcephaly	4/4	OMIM:618268
57003	CCDC47	HP:0000248	Brachycephaly	4/4	OMIM:618268
57003	CCDC47	HP:0012202	Increased serum bile acid concentration	3/3	OMIM:618268
57003	CCDC47	HP:0000218	High palate	4/4	OMIM:618268
57003	CCDC47	HP:0001561	Polyhydramnios	1/4	OMIM:618268
57003	CCDC47	HP:0001558	Decreased fetal movement	2/2	OMIM:618268
57003	CCDC47	HP:0002870	Obstructive sleep apnea	3/4	OMIM:618268
57003	CCDC47	HP:0007874	Almond-shaped palpebral fissure	2/4	OMIM:618268
57003	CCDC47	HP:0000369	Low-set ears	1/4	OMIM:618268
57003	CCDC47	HP:0000341	Narrow forehead	3/4	OMIM:618268
57003	CCDC47	HP:0000316	Hypertelorism	3/4	OMIM:618268
57003	CCDC47	HP:0001643	Patent ductus arteriosus	2/4	OMIM:618268
57003	CCDC47	HP:0001629	Ventricular septal defect	1/4	OMIM:618268
57003	CCDC47	HP:0001622	Premature birth	1/4	OMIM:618268
57003	CCDC47	HP:0001738	Exocrine pancreatic insufficiency	1/4	OMIM:618268
57003	CCDC47	HP:0000403	Recurrent otitis media	4/4	OMIM:618268
57003	CCDC47	HP:0000483	Astigmatism	1/3	OMIM:618268
57003	CCDC47	HP:0012471	Thick vermilion border	4/4	OMIM:618268
57003	CCDC47	HP:0001773	Short foot	4/4	OMIM:618268
57003	CCDC47	HP:0000414	Bulbous nose	1/4	OMIM:618268
57003	CCDC47	HP:0001744	Splenomegaly	2/4	OMIM:618268
57003	CCDC47	HP:0001762	Talipes equinovarus	3/4	OMIM:618268
57003	CCDC47	HP:0001845	Overlapping toe	4/4	OMIM:618268
57003	CCDC47	HP:0000527	Long eyelashes	2/4	OMIM:618268
57003	CCDC47	HP:0000508	Ptosis	4/4	OMIM:618268
57003	CCDC47	HP:0000540	Hypermetropia	2/3	OMIM:618268
57007	ACKR3	HP:0009921	Duane anomaly	1/5	OMIM:619215
57007	ACKR3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619215
57007	ACKR3	HP:0033851	Oculomotor synkinesis	3/5	OMIM:619215
57007	ACKR3	HP:0003577	Congenital onset	-	OMIM:619215
57007	ACKR3	HP:0000508	Ptosis	4/5	OMIM:619215
57010	CABP4	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
57010	CABP4	HP:0025237	Confusional arousal	HP:0040283	ORPHA:98784
57010	CABP4	HP:0025236	Somnambulism	HP:0040283	ORPHA:98784
57010	CABP4	HP:0025235	NREM parasomnia	HP:0040284	ORPHA:98784
57010	CABP4	HP:0001256	Intellectual disability, mild	HP:0040284	ORPHA:98784
57010	CABP4	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:98784
57010	CABP4	HP:0001345	Psychotic mentation	HP:0040284	ORPHA:98784
57010	CABP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:610427
57010	CABP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
57010	CABP4	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
57010	CABP4	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
57010	CABP4	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
57010	CABP4	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:215
57010	CABP4	HP:0007642	Congenital stationary night blindness	-	OMIM:610427
57010	CABP4	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:98784
57010	CABP4	HP:0002069	Bilateral tonic-clonic seizure	HP:0040284	ORPHA:98784
57010	CABP4	HP:0002268	Paroxysmal dystonia	HP:0040282	ORPHA:98784
57010	CABP4	HP:0007018	Attention deficit hyperactivity disorder	HP:0040284	ORPHA:98784
57010	CABP4	HP:0003621	Juvenile onset	8/19	OMIM:180100
57010	CABP4	HP:0000639	Nystagmus	-	OMIM:610427
57010	CABP4	HP:0000639	Nystagmus	HP:0040282	ORPHA:215
57010	CABP4	HP:0000613	Photophobia	-	OMIM:610427
57010	CABP4	HP:0030469	Abnormal dark-adapted electroretinogram	HP:0040281	ORPHA:215
57010	CABP4	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	HP:0040283	ORPHA:215
57010	CABP4	HP:0000662	Nyctalopia	26/28	OMIM:180100
57010	CABP4	HP:0000662	Nyctalopia	HP:0040281	ORPHA:215
57010	CABP4	HP:0031951	Nocturnal seizures	HP:0040281	ORPHA:98784
57010	CABP4	HP:0030639	Congenital stationary night blindness with abnormal fundus	HP:0040282	ORPHA:215
57010	CABP4	HP:0030638	Congenital stationary night blindness with normal fundus	HP:0040282	ORPHA:215
57010	CABP4	HP:0004305	Involuntary movements	HP:0040282	ORPHA:98784
57010	CABP4	HP:0000739	Anxiety	HP:0040283	ORPHA:98784
57010	CABP4	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:98784
57010	CABP4	HP:0000716	Depression	HP:0040283	ORPHA:98784
57010	CABP4	HP:0000708	Atypical behavior	HP:0040284	ORPHA:98784
57010	CABP4	HP:0011463	Childhood onset	3/19	OMIM:180100
57010	CABP4	HP:0011462	Young adult onset	8/19	OMIM:180100
57010	CABP4	HP:0007703	Abnormality of retinal pigmentation	HP:0040284	ORPHA:215
57010	CABP4	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
57010	CABP4	HP:0002883	Hyperventilation	HP:0040283	ORPHA:98784
57010	CABP4	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
57010	CABP4	HP:0031535	Increased theta frequency activity in EEG	HP:0040283	ORPHA:98784
57010	CABP4	HP:0011193	EEG with focal spikes	HP:0040283	ORPHA:98784
57010	CABP4	HP:0011182	Interictal epileptiform activity	HP:0040283	ORPHA:98784
57010	CABP4	HP:0011174	Focal hyperkinetic seizure	HP:0040283	ORPHA:98784
57010	CABP4	HP:0030329	Retinal thinning	HP:0040284	ORPHA:215
57010	CABP4	HP:0007984	Electronegative electroretinogram	-	OMIM:610427
57010	CABP4	HP:0007984	Electronegative electroretinogram	HP:0040283	ORPHA:215
57010	CABP4	HP:0000486	Strabismus	HP:0040283	OMIM:610427
57010	CABP4	HP:0000486	Strabismus	HP:0040282	ORPHA:215
57010	CABP4	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:98784
57010	CABP4	HP:0031705	Compensatory head posture	HP:0040283	ORPHA:215
57010	CABP4	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
57010	CABP4	HP:0000505	Visual impairment	-	OMIM:610427
57010	CABP4	HP:0000575	Scotoma	5/18	OMIM:180100
57010	CABP4	HP:0000540	Hypermetropia	HP:0040283	ORPHA:215
57010	CABP4	HP:0000551	Color vision defect	HP:0040283	OMIM:610427
57010	CABP4	HP:0000551	Color vision defect	HP:0040284	ORPHA:215
57010	CABP4	HP:0000543	Optic disc pallor	1/1	OMIM:180100
57010	CABP4	HP:0000545	Myopia	-	OMIM:180100
57010	CABP4	HP:0000545	Myopia	HP:0040281	ORPHA:215
57017	COQ9	HP:0001298	Encephalopathy	1/1	OMIM:614654
57017	COQ9	HP:0001290	Generalized hypotonia	-	OMIM:614654
57017	COQ9	HP:0001276	Hypertonia	1/1	OMIM:614654
57017	COQ9	HP:0001272	Cerebellar atrophy	1/1	OMIM:614654
57017	COQ9	HP:0001250	Seizure	1/1	OMIM:614654
57017	COQ9	HP:0001252	Hypotonia	-	OMIM:614654
57017	COQ9	HP:0001263	Global developmental delay	1/1	OMIM:614654
57017	COQ9	HP:0001347	Hyperreflexia	-	OMIM:614654
57017	COQ9	HP:0001332	Dystonia	1/1	OMIM:614654
57017	COQ9	HP:0000007	Autosomal recessive inheritance	-	OMIM:614654
57017	COQ9	HP:0003348	Hyperalaninemia	-	OMIM:614654
57017	COQ9	HP:0002093	Respiratory insufficiency	-	OMIM:614654
57017	COQ9	HP:0002045	Hypothermia	1/1	OMIM:614654
57017	COQ9	HP:0002059	Cerebral atrophy	1/1	OMIM:614654
57017	COQ9	HP:0002151	Increased circulating lactate concentration	-	OMIM:614654
57017	COQ9	HP:0011968	Feeding difficulties	1/1	OMIM:614654
57017	COQ9	HP:0003623	Neonatal onset	1/1	OMIM:614654
57017	COQ9	HP:0003128	Lactic acidosis	1/1	OMIM:614654
57017	COQ9	HP:0034369	Decreased level of coenzyme Q10 in skeletal muscle	1/1	OMIM:614654
57017	COQ9	HP:0001511	Intrauterine growth retardation	-	OMIM:614654
57017	COQ9	HP:0001612	Weak cry	-	OMIM:614654
57017	COQ9	HP:0001662	Bradycardia	-	OMIM:614654
57017	COQ9	HP:0001712	Left ventricular hypertrophy	1/1	OMIM:614654
57017	COQ9	HP:0005484	Secondary microcephaly	-	OMIM:614654
57020	VPS35L	HP:0001156	Brachydactyly	HP:0040283	ORPHA:7
57020	VPS35L	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:7
57020	VPS35L	HP:0001195	Single umbilical artery	HP:0040283	ORPHA:7
57020	VPS35L	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
57020	VPS35L	HP:0001293	Cranial nerve compression	-	OMIM:131300
57020	VPS35L	HP:0001252	Hypotonia	HP:0040281	ORPHA:7
57020	VPS35L	HP:0001252	Hypotonia	2/7	OMIM:615777
57020	VPS35L	HP:0001249	Intellectual disability	1/1	OMIM:619135
57020	VPS35L	HP:0001249	Intellectual disability	HP:0040281	ORPHA:7
57020	VPS35L	HP:0001249	Intellectual disability	5/7	OMIM:615777
57020	VPS35L	HP:0001263	Global developmental delay	HP:0040281	ORPHA:7
57020	VPS35L	HP:0001263	Global developmental delay	-	OMIM:615777
57020	VPS35L	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:7
57020	VPS35L	HP:0006118	Shortening of all distal phalanges of the fingers	2/2	OMIM:619135
57020	VPS35L	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:7
57020	VPS35L	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:7
57020	VPS35L	HP:0100856	Poorly ossified vertebrae	1/1	OMIM:619135
57020	VPS35L	HP:0032388	Periventricular nodular heterotopia	1/1	OMIM:619135
57020	VPS35L	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:7
57020	VPS35L	HP:0002553	Highly arched eyebrow	2/2	OMIM:619135
57020	VPS35L	HP:0002515	Waddling gait	54/102	OMIM:131300
57020	VPS35L	HP:0025336	Delayed ability to sit	1/1	OMIM:619135
57020	VPS35L	HP:0001382	Joint hypermobility	-	OMIM:615777
57020	VPS35L	HP:0000047	Hypospadias	HP:0040283	ORPHA:7
57020	VPS35L	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:7
57020	VPS35L	HP:0002694	Sclerosis of skull base	-	OMIM:131300
57020	VPS35L	HP:0000028	Cryptorchidism	1/1	OMIM:619135
57020	VPS35L	HP:0008897	Postnatal growth retardation	-	OMIM:615777
57020	VPS35L	HP:0008897	Postnatal growth retardation	1/1	OMIM:619135
57020	VPS35L	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:7
57020	VPS35L	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:7
57020	VPS35L	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
57020	VPS35L	HP:0001324	Muscle weakness	40/96	OMIM:131300
57020	VPS35L	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
57020	VPS35L	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
57020	VPS35L	HP:0000007	Autosomal recessive inheritance	-	OMIM:619135
57020	VPS35L	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
57020	VPS35L	HP:0001305	Dandy-Walker malformation	HP:0040281	ORPHA:7
57020	VPS35L	HP:0001320	Cerebellar vermis hypoplasia	2/2	OMIM:619135
57020	VPS35L	HP:0002650	Scoliosis	HP:0040282	ORPHA:7
57020	VPS35L	HP:0002650	Scoliosis	12/14	OMIM:131300
57020	VPS35L	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
57020	VPS35L	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
57020	VPS35L	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
57020	VPS35L	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
57020	VPS35L	HP:0000175	Cleft palate	HP:0040282	ORPHA:7
57020	VPS35L	HP:0000175	Cleft palate	2/7	OMIM:615777
57020	VPS35L	HP:0002705	High, narrow palate	HP:0040282	ORPHA:7
57020	VPS35L	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:7
57020	VPS35L	HP:0002023	Anal atresia	HP:0040283	ORPHA:7
57020	VPS35L	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:7
57020	VPS35L	HP:0002007	Frontal bossing	HP:0040281	ORPHA:7
57020	VPS35L	HP:0003388	Easy fatigability	36/76	OMIM:131300
57020	VPS35L	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
57020	VPS35L	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:7
57020	VPS35L	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:7
57020	VPS35L	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:7
57020	VPS35L	HP:0003577	Congenital onset	2/2	OMIM:619135
57020	VPS35L	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:7
57020	VPS35L	HP:0010655	Epiphyseal stippling	2/2	OMIM:619135
57020	VPS35L	HP:0003510	Severe short stature	7/7	OMIM:615777
57020	VPS35L	HP:0002384	Focal impaired awareness seizure	1/1	OMIM:619135
57020	VPS35L	HP:0002315	Headache	-	OMIM:131300
57020	VPS35L	HP:0004976	Knee dislocation	6/7	OMIM:615777
57020	VPS35L	HP:0009803	Short phalanx of finger	-	OMIM:615777
57020	VPS35L	HP:0009763	Limb pain	63/92	OMIM:131300
57020	VPS35L	HP:0003621	Juvenile onset	-	OMIM:131300
57020	VPS35L	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
57020	VPS35L	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
57020	VPS35L	HP:6001056	Out-toeing	-	OMIM:131300
57020	VPS35L	HP:0000651	Diplopia	-	OMIM:131300
57020	VPS35L	HP:0000648	Optic atrophy	HP:0040283	ORPHA:7
57020	VPS35L	HP:0000612	Iris coloboma	HP:0040283	ORPHA:7
57020	VPS35L	HP:0001956	Truncal obesity	2/7	OMIM:615777
57020	VPS35L	HP:0001903	Anemia	HP:0040283	OMIM:131300
57020	VPS35L	HP:0010049	Short metacarpal	-	OMIM:615777
57020	VPS35L	HP:0010034	Short 1st metacarpal	2/2	OMIM:619135
57020	VPS35L	HP:0011344	Severe global developmental delay	1/1	OMIM:619135
57020	VPS35L	HP:0000678	Dental crowding	-	OMIM:615777
57020	VPS35L	HP:0000670	Carious teeth	-	OMIM:131300
57020	VPS35L	HP:0011304	Broad thumb	2/7	OMIM:615777
57020	VPS35L	HP:0000668	Hypodontia	-	OMIM:615777
57020	VPS35L	HP:0000664	Synophrys	-	OMIM:615777
57020	VPS35L	HP:0004322	Short stature	HP:0040282	ORPHA:7
57020	VPS35L	HP:0004383	Hypoplastic left heart	HP:0040282	ORPHA:7
57020	VPS35L	HP:0004397	Ectopic anus	HP:0040283	ORPHA:7
57020	VPS35L	HP:0004396	Poor appetite	-	OMIM:131300
57020	VPS35L	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
57020	VPS35L	HP:0003031	Ulnar bowing	1/1	OMIM:619135
57020	VPS35L	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
57020	VPS35L	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
57020	VPS35L	HP:0003026	Short long bone	7/7	OMIM:615777
57020	VPS35L	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
57020	VPS35L	HP:0003022	Hypoplasia of the ulna	1/1	OMIM:619135
57020	VPS35L	HP:0000767	Pectus excavatum	2/7	OMIM:615777
57020	VPS35L	HP:0000768	Pectus carinatum	1/7	OMIM:615777
57020	VPS35L	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
57020	VPS35L	HP:0000750	Delayed speech and language development	-	OMIM:615777
57020	VPS35L	HP:0011461	Fetal onset	7/7	OMIM:615777
57020	VPS35L	HP:0010105	Short first metatarsal	2/2	OMIM:619135
57020	VPS35L	HP:0000774	Narrow chest	2/7	OMIM:615777
57020	VPS35L	HP:0003196	Short nose	HP:0040282	ORPHA:7
57020	VPS35L	HP:0000926	Platyspondyly	1/7	OMIM:615777
57020	VPS35L	HP:0000921	Missing ribs	HP:0040283	ORPHA:7
57020	VPS35L	HP:0003180	Flat acetabular roof	-	OMIM:615777
57020	VPS35L	HP:0004482	Relative macrocephaly	1/1	OMIM:619135
57020	VPS35L	HP:0004482	Relative macrocephaly	-	OMIM:615777
57020	VPS35L	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
57020	VPS35L	HP:0000835	Adrenal hypoplasia	HP:0040283	ORPHA:7
57020	VPS35L	HP:0000823	Delayed puberty	-	OMIM:131300
57020	VPS35L	HP:0000894	Short clavicles	-	OMIM:615777
57020	VPS35L	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
57020	VPS35L	HP:0003272	Abnormal hip bone morphology	HP:0040283	ORPHA:7
57020	VPS35L	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
57020	VPS35L	HP:0000286	Epicanthus	1/7	OMIM:615777
57020	VPS35L	HP:0000280	Coarse facial features	2/7	OMIM:615777
57020	VPS35L	HP:0000260	Wide anterior fontanel	2/2	OMIM:619135
57020	VPS35L	HP:0000256	Macrocephaly	HP:0040282	ORPHA:7
57020	VPS35L	HP:0000269	Prominent occiput	HP:0040282	ORPHA:7
57020	VPS35L	HP:0002827	Hip dislocation	3/7	OMIM:615777
57020	VPS35L	HP:0002808	Kyphosis	HP:0040282	ORPHA:7
57020	VPS35L	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:7
57020	VPS35L	HP:0000235	Abnormal cranial suture/fontanelle morphology	HP:0040281	ORPHA:7
57020	VPS35L	HP:0000252	Microcephaly	-	OMIM:615777
57020	VPS35L	HP:0000219	Thin upper lip vermilion	2/2	OMIM:619135
57020	VPS35L	HP:0002857	Genu valgum	-	OMIM:131300
57020	VPS35L	HP:0001522	Death in infancy	1/2	OMIM:619135
57020	VPS35L	HP:0001522	Death in infancy	HP:0040282	ORPHA:7
57020	VPS35L	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:7
57020	VPS35L	HP:0001533	Slender build	-	OMIM:131300
57020	VPS35L	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
57020	VPS35L	HP:0007807	Optic nerve compression	-	OMIM:131300
57020	VPS35L	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:7
57020	VPS35L	HP:0012368	Flat face	7/7	OMIM:615777
57020	VPS35L	HP:0002937	Hemivertebrae	HP:0040283	ORPHA:7
57020	VPS35L	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
57020	VPS35L	HP:0000365	Hearing impairment	10/67	OMIM:131300
57020	VPS35L	HP:0000369	Low-set ears	HP:0040282	ORPHA:7
57020	VPS35L	HP:0000343	Long philtrum	1/7	OMIM:615777
57020	VPS35L	HP:0011001	Increased bone mineral density	-	OMIM:131300
57020	VPS35L	HP:0000347	Micrognathia	HP:0040283	ORPHA:7
57020	VPS35L	HP:0000347	Micrognathia	2/2	OMIM:619135
57020	VPS35L	HP:0001650	Aortic valve stenosis	HP:0040282	ORPHA:7
57020	VPS35L	HP:0000316	Hypertelorism	HP:0040281	ORPHA:7
57020	VPS35L	HP:0000316	Hypertelorism	1/1	OMIM:619135
57020	VPS35L	HP:0000311	Round face	2/7	OMIM:615777
57020	VPS35L	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:7
57020	VPS35L	HP:0000329	Facial hemangioma	HP:0040283	ORPHA:7
57020	VPS35L	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:7
57020	VPS35L	HP:0002970	Genu varum	-	OMIM:615777
57020	VPS35L	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:7
57020	VPS35L	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:7
57020	VPS35L	HP:0000303	Mandibular prognathia	-	OMIM:131300
57020	VPS35L	HP:0001633	Abnormal mitral valve morphology	HP:0040282	ORPHA:7
57020	VPS35L	HP:0032989	Delayed ability to roll over	1/1	OMIM:619135
57020	VPS35L	HP:0006695	Atrioventricular canal defect	1/2	OMIM:619135
57020	VPS35L	HP:0006695	Atrioventricular canal defect	HP:0040282	ORPHA:7
57020	VPS35L	HP:0001702	Abnormal tricuspid valve morphology	HP:0040282	ORPHA:7
57020	VPS35L	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:7
57020	VPS35L	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
57020	VPS35L	HP:0000494	Downslanted palpebral fissures	2/2	OMIM:619135
57020	VPS35L	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:7
57020	VPS35L	HP:0000463	Anteverted nares	2/2	OMIM:619135
57020	VPS35L	HP:0000470	Short neck	HP:0040283	ORPHA:7
57020	VPS35L	HP:0000470	Short neck	1/7	OMIM:615777
57020	VPS35L	HP:0001769	Broad foot	HP:0040283	OMIM:615777
57020	VPS35L	HP:0001763	Pes planus	1/7	OMIM:615777
57020	VPS35L	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:7
57020	VPS35L	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040283	ORPHA:7
57020	VPS35L	HP:0001840	Metatarsus adductus	-	OMIM:615777
57020	VPS35L	HP:0000520	Proptosis	2/4	OMIM:131300
57020	VPS35L	HP:0000520	Proptosis	7/7	OMIM:615777
57020	VPS35L	HP:0000501	Glaucoma	HP:0040283	ORPHA:7
57020	VPS35L	HP:0001804	Hypoplastic fingernail	HP:0040283	ORPHA:7
57020	VPS35L	HP:0000592	Blue sclerae	2/7	OMIM:615777
57020	VPS35L	HP:0011220	Prominent forehead	1/2	OMIM:619135
57020	VPS35L	HP:0000568	Microphthalmia	1/2	OMIM:619135
57020	VPS35L	HP:0000567	Chorioretinal coloboma	2/2	OMIM:619135
57020	VPS35L	HP:0000567	Chorioretinal coloboma	HP:0040283	ORPHA:7
57020	VPS35L	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
57020	VPS35L	HP:0012514	Lower limb pain	4/4	OMIM:131300
57038	RARS2	HP:0002490	Increased CSF lactate	1/3	OMIM:611523
57038	RARS2	HP:0002421	Poor head control	-	OMIM:611523
57038	RARS2	HP:0001290	Generalized hypotonia	3/3	OMIM:611523
57038	RARS2	HP:0001272	Cerebellar atrophy	2/3	OMIM:611523
57038	RARS2	HP:0001254	Lethargy	1/3	OMIM:611523
57038	RARS2	HP:0001250	Seizure	-	OMIM:611523
57038	RARS2	HP:0001252	Hypotonia	-	OMIM:611523
57038	RARS2	HP:0001257	Spasticity	1/3	OMIM:611523
57038	RARS2	HP:0007366	Atrophy/Degeneration affecting the brainstem	-	OMIM:611523
57038	RARS2	HP:0003819	Death in childhood	-	OMIM:611523
57038	RARS2	HP:0001347	Hyperreflexia	-	OMIM:611523
57038	RARS2	HP:0001344	Absent speech	-	OMIM:611523
57038	RARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:611523
57038	RARS2	HP:0001320	Cerebellar vermis hypoplasia	1/3	OMIM:611523
57038	RARS2	HP:0001321	Cerebellar hypoplasia	1/3	OMIM:611523
57038	RARS2	HP:0000189	Narrow palate	-	OMIM:611523
57038	RARS2	HP:0008936	Axial hypotonia	1/3	OMIM:611523
57038	RARS2	HP:0002020	Gastroesophageal reflux	1/3	OMIM:611523
57038	RARS2	HP:0002033	Poor suck	2/3	OMIM:611523
57038	RARS2	HP:0002061	Lower limb spasticity	-	OMIM:611523
57038	RARS2	HP:0002059	Cerebral atrophy	-	OMIM:611523
57038	RARS2	HP:0002151	Increased circulating lactate concentration	1/3	OMIM:611523
57038	RARS2	HP:0002120	Cerebral cortical atrophy	1/3	OMIM:611523
57038	RARS2	HP:0002104	Apnea	2/3	OMIM:611523
57038	RARS2	HP:0011924	Decreased activity of mitochondrial complex III	1/3	OMIM:611523
57038	RARS2	HP:0011923	Decreased activity of mitochondrial complex I	2/3	OMIM:611523
57038	RARS2	HP:0002197	Generalized-onset seizure	1/3	OMIM:611523
57038	RARS2	HP:0003577	Congenital onset	3/3	OMIM:611523
57038	RARS2	HP:0008347	Decreased activity of mitochondrial complex IV	2/3	OMIM:611523
57038	RARS2	HP:0011968	Feeding difficulties	3/3	OMIM:611523
57038	RARS2	HP:0003676	Progressive	-	OMIM:611523
57038	RARS2	HP:0006986	Upper limb spasticity	-	OMIM:611523
57038	RARS2	HP:0012736	Profound global developmental delay	3/3	OMIM:611523
57038	RARS2	HP:0034391	Elbow contracture	1/3	OMIM:611523
57038	RARS2	HP:0034353	Appendicular spasticity	1/3	OMIM:611523
57038	RARS2	HP:0000253	Progressive microcephaly	-	OMIM:611523
57038	RARS2	HP:0000252	Microcephaly	1/3	OMIM:611523
57038	RARS2	HP:0001508	Failure to thrive	3/3	OMIM:611523
57038	RARS2	HP:0000341	Narrow forehead	-	OMIM:611523
57038	RARS2	HP:0000490	Deeply set eye	-	OMIM:611523
57038	RARS2	HP:0012444	Brain atrophy	1/3	OMIM:611523
57038	RARS2	HP:0000426	Prominent nasal bridge	-	OMIM:611523
57054	DAZ3	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:1646
57054	DAZ3	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:1646
57054	DAZ3	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1646
57054	DAZ3	HP:0000027	Azoospermia	-	OMIM:415000
57054	DAZ3	HP:0001450	Y-linked inheritance	-	OMIM:415000
57054	DAZ3	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:1646
57054	DAZ3	HP:0011462	Young adult onset	-	OMIM:415000
57054	DAZ3	HP:0000798	Oligozoospermia	HP:0040282	ORPHA:1646
57054	DAZ3	HP:0003251	Male infertility	HP:0040281	ORPHA:1646
57054	DAZ3	HP:0003251	Male infertility	-	OMIM:415000
57055	DAZ2	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:1646
57055	DAZ2	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:1646
57055	DAZ2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1646
57055	DAZ2	HP:0000027	Azoospermia	-	OMIM:415000
57055	DAZ2	HP:0001450	Y-linked inheritance	-	OMIM:415000
57055	DAZ2	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:1646
57055	DAZ2	HP:0011462	Young adult onset	-	OMIM:415000
57055	DAZ2	HP:0000798	Oligozoospermia	HP:0040282	ORPHA:1646
57055	DAZ2	HP:0003251	Male infertility	HP:0040281	ORPHA:1646
57055	DAZ2	HP:0003251	Male infertility	-	OMIM:415000
57057	TBX20	HP:0001297	Stroke	HP:0040284	ORPHA:99103
57057	TBX20	HP:0001279	Syncope	HP:0040284	ORPHA:99103
57057	TBX20	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
57057	TBX20	HP:0000006	Autosomal dominant inheritance	-	OMIM:611363
57057	TBX20	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
57057	TBX20	HP:0002718	Recurrent bacterial infections	HP:0040284	ORPHA:99103
57057	TBX20	HP:0005957	Breathing dysregulation	HP:0040283	ORPHA:99103
57057	TBX20	HP:0002094	Dyspnea	HP:0040283	ORPHA:99103
57057	TBX20	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:99103
57057	TBX20	HP:0002090	Pneumonia	HP:0040284	ORPHA:99103
57057	TBX20	HP:0011710	Bundle branch block	HP:0040283	ORPHA:99103
57057	TBX20	HP:0011705	First degree atrioventricular block	HP:0040283	ORPHA:99103
57057	TBX20	HP:0004755	Supraventricular tachycardia	HP:0040283	ORPHA:99103
57057	TBX20	HP:0004749	Atrial flutter	HP:0040283	ORPHA:99103
57057	TBX20	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:99103
57057	TBX20	HP:0002326	Transient ischemic attack	HP:0040284	ORPHA:99103
57057	TBX20	HP:0010741	Pedal edema	HP:0040283	ORPHA:99103
57057	TBX20	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
57057	TBX20	HP:0001962	Palpitations	HP:0040282	ORPHA:99103
57057	TBX20	HP:0012764	Orthopnea	HP:0040283	ORPHA:99103
57057	TBX20	HP:0004467	Preauricular pit	-	OMIM:187500
57057	TBX20	HP:0030718	Right atrial enlargement	HP:0040282	ORPHA:99103
57057	TBX20	HP:0000961	Cyanosis	HP:0040284	ORPHA:99103
57057	TBX20	HP:0011675	Arrhythmia	HP:0040283	ORPHA:99103
57057	TBX20	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
57057	TBX20	HP:0012250	ST segment depression	HP:0040283	ORPHA:99103
57057	TBX20	HP:0005133	Right ventricular dilatation	HP:0040283	ORPHA:99103
57057	TBX20	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:99103
57057	TBX20	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:99103
57057	TBX20	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:99103
57057	TBX20	HP:0012378	Fatigue	HP:0040282	ORPHA:99103
57057	TBX20	HP:0012382	Left-to-right shunt	HP:0040281	ORPHA:99103
57057	TBX20	HP:0006536	Airway obstruction	HP:0040284	ORPHA:99103
57057	TBX20	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:99103
57057	TBX20	HP:0005162	Abnormal left ventricular function	HP:0040283	ORPHA:99103
57057	TBX20	HP:0000337	Broad forehead	-	OMIM:187500
57057	TBX20	HP:0001664	Torsade de pointes	1/46	OMIM:115000
57057	TBX20	HP:0001680	Coarctation of aorta	HP:0040283	OMIM:611363
57057	TBX20	HP:0001645	Sudden cardiac death	-	OMIM:115000
57057	TBX20	HP:0001663	Ventricular fibrillation	-	OMIM:115000
57057	TBX20	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:99103
57057	TBX20	HP:0001655	Patent foramen ovale	HP:0040283	OMIM:611363
57057	TBX20	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
57057	TBX20	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:99103
57057	TBX20	HP:0001631	Atrial septal defect	-	OMIM:611363
57057	TBX20	HP:0001633	Abnormal mitral valve morphology	HP:0040283	ORPHA:99103
57057	TBX20	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
57057	TBX20	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
57057	TBX20	HP:0005317	Increased pulmonary vascular resistance	HP:0040284	ORPHA:99103
57057	TBX20	HP:0001708	Right ventricular failure	HP:0040284	ORPHA:99103
57057	TBX20	HP:0000520	Proptosis	-	OMIM:187500
57057	TBX20	HP:0031664	Systolic heart murmur	HP:0040282	ORPHA:99103
57061	HYMAI	HP:0010866	Abdominal wall defect	HP:0040283	ORPHA:96191
57061	HYMAI	HP:0001250	Seizure	HP:0040283	ORPHA:99886
57061	HYMAI	HP:0001252	Hypotonia	HP:0040283	ORPHA:99886
57061	HYMAI	HP:0000065	Labial hypertrophy	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:99886
57061	HYMAI	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:99886
57061	HYMAI	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:96191
57061	HYMAI	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0000006	Autosomal dominant inheritance	-	OMIM:601410
57061	HYMAI	HP:0002643	Neonatal respiratory distress	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0000158	Macroglossia	HP:0040282	ORPHA:99886
57061	HYMAI	HP:0000158	Macroglossia	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0008255	Transient neonatal diabetes mellitus	-	OMIM:601410
57061	HYMAI	HP:0008255	Transient neonatal diabetes mellitus	HP:0040282	ORPHA:99886
57061	HYMAI	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0100767	Abnormal placenta morphology	HP:0040283	ORPHA:96191
57061	HYMAI	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:99886
57061	HYMAI	HP:0004904	Maturity-onset diabetes of the young	HP:0040282	ORPHA:99886
57061	HYMAI	HP:0001944	Dehydration	HP:0040281	ORPHA:99886
57061	HYMAI	HP:0001944	Dehydration	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0001944	Dehydration	-	OMIM:601410
57061	HYMAI	HP:0001953	Diabetic ketoacidosis	HP:0040284	ORPHA:99886
57061	HYMAI	HP:0003074	Hyperglycemia	-	OMIM:601410
57061	HYMAI	HP:0003074	Hyperglycemia	HP:0040281	ORPHA:99886
57061	HYMAI	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:99886
57061	HYMAI	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:99886
57061	HYMAI	HP:0000857	Neonatal insulin-dependent diabetes mellitus	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0000826	Precocious puberty	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:99886
57061	HYMAI	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:99886
57061	HYMAI	HP:0040216	Hypoinsulinemia	HP:0040281	ORPHA:99886
57061	HYMAI	HP:0000278	Retrognathia	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0000269	Prominent occiput	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0030057	Autoimmune antibody positivity	-	ORPHA:99886
57061	HYMAI	HP:0000237	Small anterior fontanelle	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0000218	High palate	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0000212	Gingival overgrowth	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0001562	Oligohydramnios	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0001525	Severe failure to thrive	-	OMIM:601410
57061	HYMAI	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:99886
57061	HYMAI	HP:0001537	Umbilical hernia	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0001508	Failure to thrive	HP:0040283	ORPHA:99886
57061	HYMAI	HP:0001518	Small for gestational age	HP:0040281	ORPHA:99886
57061	HYMAI	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:99886
57061	HYMAI	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0001511	Intrauterine growth retardation	-	OMIM:601410
57061	HYMAI	HP:0000363	Abnormal earlobe morphology	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0000365	Hearing impairment	HP:0040283	ORPHA:99886
57061	HYMAI	HP:0000347	Micrognathia	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:96191
57061	HYMAI	HP:0001629	Ventricular septal defect	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:99886
57061	HYMAI	HP:0001640	Cardiomegaly	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0000448	Prominent nose	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0001804	Hypoplastic fingernail	HP:0040281	ORPHA:96191
57061	HYMAI	HP:0000586	Shallow orbits	HP:0040281	ORPHA:96191
57082	KNL1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
57082	KNL1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
57082	KNL1	HP:0001250	Seizure	0/4	OMIM:604321
57082	KNL1	HP:0001249	Intellectual disability	4/4	OMIM:604321
57082	KNL1	HP:0001263	Global developmental delay	4/4	OMIM:604321
57082	KNL1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
57082	KNL1	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
57082	KNL1	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
57082	KNL1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
57082	KNL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:604321
57082	KNL1	HP:0001335	Bimanual synkinesia	-	OMIM:604321
57082	KNL1	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
57082	KNL1	HP:0001320	Cerebellar vermis hypoplasia	1/2	OMIM:604321
57082	KNL1	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
57082	KNL1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
57082	KNL1	HP:0003577	Congenital onset	4/4	OMIM:604321
57082	KNL1	HP:0100710	Impulsivity	-	OMIM:604321
57082	KNL1	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
57082	KNL1	HP:0009765	Low hanging columella	4/4	OMIM:604321
57082	KNL1	HP:0000664	Synophrys	4/4	OMIM:604321
57082	KNL1	HP:0004322	Short stature	4/4	OMIM:604321
57082	KNL1	HP:0004322	Short stature	HP:0040281	ORPHA:2512
57082	KNL1	HP:0000750	Delayed speech and language development	4/4	OMIM:604321
57082	KNL1	HP:0000718	Aggressive behavior	-	OMIM:604321
57082	KNL1	HP:0011451	Primary microcephaly	4/4	OMIM:604321
57082	KNL1	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
57082	KNL1	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
57082	KNL1	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
57082	KNL1	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
57082	KNL1	HP:0000340	Sloping forehead	4/4	OMIM:604321
57082	KNL1	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
57082	KNL1	HP:0000347	Micrognathia	-	OMIM:604321
57082	KNL1	HP:0000316	Hypertelorism	-	OMIM:604321
57082	KNL1	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
57082	KNL1	HP:0000574	Thick eyebrow	4/4	OMIM:604321
57094	CPA6	HP:0410170	Hippocampal atrophy	1/4	OMIM:614418
57094	CPA6	HP:0020216	Visually-induced seizure	1/4	OMIM:614417
57094	CPA6	HP:0010850	EEG with spike-wave complexes	1/4	OMIM:614417
57094	CPA6	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:36387
57094	CPA6	HP:0001252	Hypotonia	HP:0040283	ORPHA:36387
57094	CPA6	HP:0001251	Ataxia	HP:0040283	ORPHA:36387
57094	CPA6	HP:0001249	Intellectual disability	1/4	OMIM:614417
57094	CPA6	HP:0008770	Obsessive-compulsive trait	HP:0040284	ORPHA:36387
57094	CPA6	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:36387
57094	CPA6	HP:0002539	Cortical dysplasia	HP:0040283	ORPHA:36387
57094	CPA6	HP:0000007	Autosomal recessive inheritance	-	OMIM:614417
57094	CPA6	HP:0000007	Autosomal recessive inheritance	-	OMIM:614418
57094	CPA6	HP:0001337	Tremor	HP:0040284	ORPHA:36387
57094	CPA6	HP:0000006	Autosomal dominant inheritance	-	OMIM:614417
57094	CPA6	HP:0004684	Talipes valgus	HP:0040284	ORPHA:36387
57094	CPA6	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:36387
57094	CPA6	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:36387
57094	CPA6	HP:0002069	Bilateral tonic-clonic seizure	1/4	OMIM:614417
57094	CPA6	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:614418
57094	CPA6	HP:0002067	Bradykinesia	HP:0040284	ORPHA:36387
57094	CPA6	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:36387
57094	CPA6	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:36387
57094	CPA6	HP:0002133	Status epilepticus	HP:0040284	ORPHA:36387
57094	CPA6	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:36387
57094	CPA6	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:36387
57094	CPA6	HP:0007058	Generalized cerebral atrophy/hypoplasia	HP:0040283	ORPHA:36387
57094	CPA6	HP:0002384	Focal impaired awareness seizure	HP:0040284	ORPHA:36387
57094	CPA6	HP:0002384	Focal impaired awareness seizure	1/4	OMIM:614417
57094	CPA6	HP:0002384	Focal impaired awareness seizure	1/4	OMIM:614418
57094	CPA6	HP:0002376	Developmental regression	HP:0040283	ORPHA:36387
57094	CPA6	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:36387
57094	CPA6	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	4/4	OMIM:614418
57094	CPA6	HP:0002349	Focal aware seizure	3/4	OMIM:614417
57094	CPA6	HP:0010819	Atonic seizure	HP:0040283	ORPHA:36387
57094	CPA6	HP:0100694	Tibial torsion	HP:0040284	ORPHA:36387
57094	CPA6	HP:0002311	Incoordination	HP:0040283	ORPHA:36387
57094	CPA6	HP:0003621	Juvenile onset	2/4	OMIM:614417
57094	CPA6	HP:0003066	Limited knee extension	HP:0040284	ORPHA:36387
57094	CPA6	HP:0000739	Anxiety	HP:0040284	ORPHA:36387
57094	CPA6	HP:0000729	Autistic behavior	HP:0040284	ORPHA:36387
57094	CPA6	HP:0011463	Childhood onset	2/4	OMIM:614417
57094	CPA6	HP:0011151	Atypical absence status epilepticus	HP:0040283	ORPHA:36387
57094	CPA6	HP:0001763	Pes planus	HP:0040284	ORPHA:36387
57096	RPGRIP1	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:564
57096	RPGRIP1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
57096	RPGRIP1	HP:0001133	Constriction of peripheral visual field	6/6	OMIM:613826
57096	RPGRIP1	HP:0001133	Constriction of peripheral visual field	5/5	OMIM:608194
57096	RPGRIP1	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
57096	RPGRIP1	HP:0001141	Severely reduced visual acuity	2/14	OMIM:608194
57096	RPGRIP1	HP:0001141	Severely reduced visual acuity	1/1	OMIM:613826
57096	RPGRIP1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
57096	RPGRIP1	HP:0001270	Motor delay	HP:0040283	ORPHA:65
57096	RPGRIP1	HP:0001250	Seizure	HP:0040282	ORPHA:65
57096	RPGRIP1	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
57096	RPGRIP1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
57096	RPGRIP1	HP:0001249	Intellectual disability	0/1	OMIM:613826
57096	RPGRIP1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
57096	RPGRIP1	HP:0001263	Global developmental delay	6/30	OMIM:613826
57096	RPGRIP1	HP:0007401	Macular atrophy	6/28	OMIM:613826
57096	RPGRIP1	HP:0007401	Macular atrophy	6/11	OMIM:608194
57096	RPGRIP1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0000068	Urethral atresia	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0012045	Retinal flecks	1/1	OMIM:613826
57096	RPGRIP1	HP:0012043	Pendular nystagmus	-	OMIM:613826
57096	RPGRIP1	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
57096	RPGRIP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613826
57096	RPGRIP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608194
57096	RPGRIP1	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:564
57096	RPGRIP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
57096	RPGRIP1	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:564
57096	RPGRIP1	HP:0000175	Cleft palate	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0001483	Eye poking	HP:0040282	ORPHA:65
57096	RPGRIP1	HP:0001483	Eye poking	35/57	OMIM:613826
57096	RPGRIP1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:608194
57096	RPGRIP1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
57096	RPGRIP1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
57096	RPGRIP1	HP:0007663	Reduced visual acuity	5/5	OMIM:608194
57096	RPGRIP1	HP:0007663	Reduced visual acuity	38/38	OMIM:613826
57096	RPGRIP1	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
57096	RPGRIP1	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
57096	RPGRIP1	HP:0002084	Encephalocele	HP:0040281	ORPHA:564
57096	RPGRIP1	HP:0010459	True hermaphroditism	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0003593	Infantile onset	3/13	OMIM:608194
57096	RPGRIP1	HP:0003593	Infantile onset	42/53	OMIM:613826
57096	RPGRIP1	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
57096	RPGRIP1	HP:0003577	Congenital onset	2/11	OMIM:608194
57096	RPGRIP1	HP:0003577	Congenital onset	20/21	OMIM:613826
57096	RPGRIP1	HP:0003581	Adult onset	2/11	OMIM:608194
57096	RPGRIP1	HP:0100732	Pancreatic fibrosis	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0032037	Mildly reduced visual acuity	4/14	OMIM:608194
57096	RPGRIP1	HP:0025010	Foveal atrophy	1/1	OMIM:613826
57096	RPGRIP1	HP:0002323	Anencephaly	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0200070	Peripheral retinal atrophy	1/9	OMIM:613826
57096	RPGRIP1	HP:0032122	Very low visual acuity	4/16	OMIM:608194
57096	RPGRIP1	HP:0032122	Very low visual acuity	35/39	OMIM:613826
57096	RPGRIP1	HP:0008499	High hypermetropia	-	OMIM:613826
57096	RPGRIP1	HP:0003623	Neonatal onset	2/4	OMIM:613826
57096	RPGRIP1	HP:0003621	Juvenile onset	8/19	OMIM:180100
57096	RPGRIP1	HP:0003621	Juvenile onset	7/17	OMIM:608194
57096	RPGRIP1	HP:0003621	Juvenile onset	2/5	OMIM:613826
57096	RPGRIP1	HP:0006870	Lobar holoprosencephaly	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0030515	Moderately reduced visual acuity	8/14	OMIM:608194
57096	RPGRIP1	HP:0030515	Moderately reduced visual acuity	2/2	OMIM:613826
57096	RPGRIP1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
57096	RPGRIP1	HP:0030553	Visual acuity no light perception	1/1	OMIM:613826
57096	RPGRIP1	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
57096	RPGRIP1	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
57096	RPGRIP1	HP:0000639	Nystagmus	11/16	OMIM:608194
57096	RPGRIP1	HP:0000639	Nystagmus	64/66	OMIM:613826
57096	RPGRIP1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0000648	Optic atrophy	2/10	OMIM:613826
57096	RPGRIP1	HP:0000647	Sclerocornea	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
57096	RPGRIP1	HP:0000613	Photophobia	HP:0040282	ORPHA:65
57096	RPGRIP1	HP:0000613	Photophobia	5/5	OMIM:608194
57096	RPGRIP1	HP:0000613	Photophobia	8/23	OMIM:613826
57096	RPGRIP1	HP:0000608	Macular degeneration	15/15	OMIM:608194
57096	RPGRIP1	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
57096	RPGRIP1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
57096	RPGRIP1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
57096	RPGRIP1	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
57096	RPGRIP1	HP:0000662	Nyctalopia	5/6	OMIM:608194
57096	RPGRIP1	HP:0000662	Nyctalopia	26/28	OMIM:180100
57096	RPGRIP1	HP:0000662	Nyctalopia	6/7	OMIM:613826
57096	RPGRIP1	HP:0004327	Abnormal vitreous humor morphology	2/10	OMIM:613826
57096	RPGRIP1	HP:0030672	Asteroid hyalosis	1/9	OMIM:613826
57096	RPGRIP1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
57096	RPGRIP1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
57096	RPGRIP1	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
57096	RPGRIP1	HP:0011463	Childhood onset	3/19	OMIM:180100
57096	RPGRIP1	HP:0011463	Childhood onset	5/13	OMIM:608194
57096	RPGRIP1	HP:0011463	Childhood onset	10/21	OMIM:613826
57096	RPGRIP1	HP:0011462	Young adult onset	8/19	OMIM:180100
57096	RPGRIP1	HP:0011505	Cystoid macular edema	0/12	OMIM:608194
57096	RPGRIP1	HP:0011504	Bull's eye maculopathy	1/9	OMIM:613826
57096	RPGRIP1	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0030825	Absent foveal reflex	4/8	OMIM:613826
57096	RPGRIP1	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0008043	Retinal arteriolar constriction	1/1	OMIM:613826
57096	RPGRIP1	HP:0007720	Flat cornea	1/1	OMIM:613826
57096	RPGRIP1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
57096	RPGRIP1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
57096	RPGRIP1	HP:0000293	Full cheeks	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0007787	Posterior subcapsular cataract	6/13	OMIM:608194
57096	RPGRIP1	HP:0007787	Posterior subcapsular cataract	2/10	OMIM:613826
57096	RPGRIP1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
57096	RPGRIP1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
57096	RPGRIP1	HP:0007737	Bone spicule pigmentation of the retina	7/22	OMIM:613826
57096	RPGRIP1	HP:0007737	Bone spicule pigmentation of the retina	7/13	OMIM:608194
57096	RPGRIP1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0000252	Microcephaly	HP:0040281	ORPHA:564
57096	RPGRIP1	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
57096	RPGRIP1	HP:0007843	Attenuation of retinal blood vessels	7/14	OMIM:608194
57096	RPGRIP1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
57096	RPGRIP1	HP:0007843	Attenuation of retinal blood vessels	33/38	OMIM:613826
57096	RPGRIP1	HP:0007814	Retinal pigment epithelial mottling	33/46	OMIM:613826
57096	RPGRIP1	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
57096	RPGRIP1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0000340	Sloping forehead	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0000347	Micrognathia	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0031605	Abnormality of fundus pigmentation	5/5	OMIM:608194
57096	RPGRIP1	HP:0030329	Retinal thinning	3/4	OMIM:613826
57096	RPGRIP1	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0000486	Strabismus	4/5	OMIM:613826
57096	RPGRIP1	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
57096	RPGRIP1	HP:0030211	Slow pupillary light response	3/3	OMIM:613826
57096	RPGRIP1	HP:0000482	Microcornea	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
57096	RPGRIP1	HP:0001746	Asplenia	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0001747	Accessory spleen	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0006706	Cystic liver disease	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
57096	RPGRIP1	HP:0000518	Cataract	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0000518	Cataract	1/9	OMIM:613826
57096	RPGRIP1	HP:0000518	Cataract	HP:0040282	ORPHA:65
57096	RPGRIP1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
57096	RPGRIP1	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
57096	RPGRIP1	HP:0000512	Abnormal electroretinogram	34/34	OMIM:613826
57096	RPGRIP1	HP:0000512	Abnormal electroretinogram	15/15	OMIM:608194
57096	RPGRIP1	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
57096	RPGRIP1	HP:0000529	Progressive visual loss	7/7	OMIM:608194
57096	RPGRIP1	HP:0000528	Anophthalmia	HP:0040283	ORPHA:564
57096	RPGRIP1	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
57096	RPGRIP1	HP:0000505	Visual impairment	-	OMIM:608194
57096	RPGRIP1	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:564
57096	RPGRIP1	HP:0000575	Scotoma	5/18	OMIM:180100
57096	RPGRIP1	HP:0000577	Exotropia	1/10	OMIM:613826
57096	RPGRIP1	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
57096	RPGRIP1	HP:0000563	Keratoconus	1/15	OMIM:613826
57096	RPGRIP1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
57096	RPGRIP1	HP:0000540	Hypermetropia	4/4	OMIM:608194
57096	RPGRIP1	HP:0000540	Hypermetropia	36/39	OMIM:613826
57096	RPGRIP1	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0000533	Chorioretinal atrophy	4/5	OMIM:613826
57096	RPGRIP1	HP:0000550	Undetectable electroretinogram	-	OMIM:613826
57096	RPGRIP1	HP:0001883	Talipes	HP:0040282	ORPHA:564
57096	RPGRIP1	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
57096	RPGRIP1	HP:0000551	Color vision defect	2/8	OMIM:613826
57096	RPGRIP1	HP:0000551	Color vision defect	5/5	OMIM:608194
57096	RPGRIP1	HP:0000546	Retinal degeneration	19/20	OMIM:613826
57096	RPGRIP1	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:608194
57096	RPGRIP1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
57096	RPGRIP1	HP:0000543	Optic disc pallor	4/13	OMIM:608194
57096	RPGRIP1	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
57096	RPGRIP1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
57096	RPGRIP1	HP:0000543	Optic disc pallor	5/11	OMIM:613826
57096	RPGRIP1	HP:0000545	Myopia	-	OMIM:180100
57096	RPGRIP1	HP:0000545	Myopia	1/1	OMIM:608194
57096	RPGRIP1	HP:0000545	Myopia	2/3	OMIM:613826
57102	FERRY3	HP:0100962	Excessive shyness	2/8	OMIM:618221
57102	FERRY3	HP:0001290	Generalized hypotonia	-	OMIM:618221
57102	FERRY3	HP:0001252	Hypotonia	2/10	OMIM:618221
57102	FERRY3	HP:0001249	Intellectual disability	13/13	OMIM:618221
57102	FERRY3	HP:0001263	Global developmental delay	1/1	OMIM:618221
57102	FERRY3	HP:0001382	Joint hypermobility	3/10	OMIM:618221
57102	FERRY3	HP:0000007	Autosomal recessive inheritance	-	OMIM:618221
57102	FERRY3	HP:0002066	Gait ataxia	2/8	OMIM:618221
57102	FERRY3	HP:0007018	Attention deficit hyperactivity disorder	1/1	OMIM:618221
57102	FERRY3	HP:0001999	Abnormal facial shape	3/10	OMIM:618221
57102	FERRY3	HP:0000750	Delayed speech and language development	10/10	OMIM:618221
57102	FERRY3	HP:0000718	Aggressive behavior	2/8	OMIM:618221
57102	FERRY3	HP:0000729	Autistic behavior	2/8	OMIM:618221
57102	FERRY3	HP:0000286	Epicanthus	2/10	OMIM:618221
57104	PNPLA2	HP:0003749	Pelvic girdle muscle weakness	HP:0040282	ORPHA:98908
57104	PNPLA2	HP:0003756	Skeletal myopathy	HP:0040281	ORPHA:565612
57104	PNPLA2	HP:0003701	Proximal muscle weakness	-	OMIM:610717
57104	PNPLA2	HP:0001290	Generalized hypotonia	-	OMIM:610717
57104	PNPLA2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:98908
57104	PNPLA2	HP:0001270	Motor delay	HP:0040282	ORPHA:98908
57104	PNPLA2	HP:0001288	Gait disturbance	-	OMIM:610717
57104	PNPLA2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98908
57104	PNPLA2	HP:0001284	Areflexia	HP:0040283	OMIM:610717
57104	PNPLA2	HP:0001284	Areflexia	HP:0040283	ORPHA:98908
57104	PNPLA2	HP:0001256	Intellectual disability, mild	2/3	OMIM:610717
57104	PNPLA2	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:98908
57104	PNPLA2	HP:0001252	Hypotonia	-	OMIM:610717
57104	PNPLA2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:565612
57104	PNPLA2	HP:0003805	Rimmed vacuoles	HP:0040283	ORPHA:565612
57104	PNPLA2	HP:0003805	Rimmed vacuoles	HP:0040283	ORPHA:98908
57104	PNPLA2	HP:0001397	Hepatic steatosis	-	OMIM:610717
57104	PNPLA2	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:98908
57104	PNPLA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:610717
57104	PNPLA2	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:98908
57104	PNPLA2	HP:0006280	Chronic pancreatitis	HP:0040283	ORPHA:98908
57104	PNPLA2	HP:0006280	Chronic pancreatitis	1/3	OMIM:610717
57104	PNPLA2	HP:0001430	Abnormal calf musculature morphology	HP:0040282	ORPHA:565612
57104	PNPLA2	HP:0001435	Abnormality of the shoulder girdle musculature	HP:0040282	ORPHA:565612
57104	PNPLA2	HP:0003326	Myalgia	-	OMIM:610717
57104	PNPLA2	HP:0003326	Myalgia	HP:0040282	ORPHA:98908
57104	PNPLA2	HP:0002094	Dyspnea	HP:0040282	ORPHA:565612
57104	PNPLA2	HP:0003391	Gowers sign	-	OMIM:610717
57104	PNPLA2	HP:0003391	Gowers sign	HP:0040282	ORPHA:98908
57104	PNPLA2	HP:0003388	Easy fatigability	-	OMIM:610717
57104	PNPLA2	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98908
57104	PNPLA2	HP:0008167	Very long chain fatty acid accumulation	HP:0040282	ORPHA:98908
57104	PNPLA2	HP:0002155	Hypertriglyceridemia	HP:0040283	OMIM:610717
57104	PNPLA2	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:98908
57104	PNPLA2	HP:0002240	Hepatomegaly	2/3	OMIM:610717
57104	PNPLA2	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:565612
57104	PNPLA2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:98908
57104	PNPLA2	HP:0003581	Adult onset	-	OMIM:610717
57104	PNPLA2	HP:0003547	Shoulder girdle muscle weakness	HP:0040281	ORPHA:98908
57104	PNPLA2	HP:0003546	Exercise intolerance	-	OMIM:610717
57104	PNPLA2	HP:0002380	Fasciculations	-	OMIM:610717
57104	PNPLA2	HP:0002380	Fasciculations	HP:0040282	ORPHA:98908
57104	PNPLA2	HP:0003677	Slowly progressive	-	OMIM:610717
57104	PNPLA2	HP:0009805	Low-output congestive heart failure	HP:0040282	ORPHA:565612
57104	PNPLA2	HP:0001082	Cholecystitis	HP:0040284	ORPHA:98908
57104	PNPLA2	HP:0032141	Precordial pain	HP:0040282	ORPHA:565612
57104	PNPLA2	HP:0009073	Progressive proximal muscle weakness	HP:0040281	ORPHA:98908
57104	PNPLA2	HP:0001962	Palpitations	HP:0040282	ORPHA:565612
57104	PNPLA2	HP:0001922	Vacuolated lymphocytes	HP:0040281	ORPHA:565612
57104	PNPLA2	HP:0009063	Progressive distal muscle weakness	HP:0040283	ORPHA:98908
57104	PNPLA2	HP:0009055	Generalized limb muscle atrophy	HP:0040283	ORPHA:98908
57104	PNPLA2	HP:0009058	Increased muscle lipid content	HP:0040281	ORPHA:565612
57104	PNPLA2	HP:0009058	Increased muscle lipid content	3/3	OMIM:610717
57104	PNPLA2	HP:0009046	Difficulty running	-	OMIM:610717
57104	PNPLA2	HP:0009046	Difficulty running	HP:0040282	ORPHA:98908
57104	PNPLA2	HP:0012683	Pineal cyst	HP:0040284	ORPHA:98908
57104	PNPLA2	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:98908
57104	PNPLA2	HP:0004322	Short stature	HP:0040283	ORPHA:98908
57104	PNPLA2	HP:0004322	Short stature	2/3	OMIM:610717
57104	PNPLA2	HP:0003077	Hyperlipidemia	HP:0040282	ORPHA:565612
57104	PNPLA2	HP:0031936	Delayed ability to walk	HP:0040284	OMIM:610717
57104	PNPLA2	HP:0003198	Myopathy	3/3	OMIM:610717
57104	PNPLA2	HP:0003198	Myopathy	HP:0040282	ORPHA:98908
57104	PNPLA2	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:565612
57104	PNPLA2	HP:0000819	Diabetes mellitus	1/3	OMIM:610717
57104	PNPLA2	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:98908
57104	PNPLA2	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040282	ORPHA:98908
57104	PNPLA2	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:610717
57104	PNPLA2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:565612
57104	PNPLA2	HP:0008064	Ichthyosis	-	ORPHA:565612
57104	PNPLA2	HP:0008064	Ichthyosis	0/3	OMIM:610717
57104	PNPLA2	HP:0008064	Ichthyosis	-	ORPHA:98908
57104	PNPLA2	HP:0011675	Arrhythmia	HP:0040282	ORPHA:565612
57104	PNPLA2	HP:0012240	Increased intramyocellular lipid droplets	HP:0040281	ORPHA:98908
57104	PNPLA2	HP:0005145	Coronary artery stenosis	HP:0040282	ORPHA:565612
57104	PNPLA2	HP:0000252	Microcephaly	0/3	OMIM:610717
57104	PNPLA2	HP:0031331	Abnormal cardiomyocyte morphology	HP:0040281	ORPHA:565612
57104	PNPLA2	HP:0001513	Obesity	-	ORPHA:98908
57104	PNPLA2	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:565612
57104	PNPLA2	HP:0002910	Elevated circulating hepatic transaminase concentration	3/3	OMIM:610717
57104	PNPLA2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:98908
57104	PNPLA2	HP:0000365	Hearing impairment	0/3	OMIM:610717
57104	PNPLA2	HP:0001681	Angina pectoris	HP:0040282	ORPHA:565612
57104	PNPLA2	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:565612
57104	PNPLA2	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:98908
57104	PNPLA2	HP:0001638	Cardiomyopathy	1/3	OMIM:610717
57104	PNPLA2	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:565612
57104	PNPLA2	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:98908
57104	PNPLA2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:565612
57104	PNPLA2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:98908
57104	PNPLA2	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:610717
57104	PNPLA2	HP:0001733	Pancreatitis	HP:0040283	ORPHA:565612
57104	PNPLA2	HP:0000478	Abnormality of the eye	HP:0040284	ORPHA:565612
57104	PNPLA2	HP:0030237	Hand muscle weakness	HP:0040283	ORPHA:98908
57104	PNPLA2	HP:0011123	Inflammatory abnormality of the skin	HP:0040283	ORPHA:565612
57104	PNPLA2	HP:0000467	Neck muscle weakness	HP:0040283	OMIM:610717
57104	PNPLA2	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:98908
57104	PNPLA2	HP:0001744	Splenomegaly	0/3	OMIM:610717
57104	PNPLA2	HP:0001744	Splenomegaly	HP:0040284	ORPHA:565612
57104	PNPLA2	HP:0031684	Renal artery atherosclerosis	HP:0040283	ORPHA:565612
57104	PNPLA2	HP:0012548	Fatty replacement of skeletal muscle	HP:0040281	ORPHA:98908
57105	CYSLTR2	HP:0010920	Zonular cataract	HP:0040283	ORPHA:39044
57105	CYSLTR2	HP:0012055	Ciliary body melanoma	HP:0040282	ORPHA:39044
57105	CYSLTR2	HP:0012054	Choroidal melanoma	HP:0040281	ORPHA:39044
57105	CYSLTR2	HP:0100533	Inflammatory abnormality of the eye	HP:0040284	ORPHA:39044
57105	CYSLTR2	HP:0200026	Ocular pain	HP:0040284	ORPHA:39044
57105	CYSLTR2	HP:0001098	Abnormal fundus morphology	HP:0040281	ORPHA:39044
57105	CYSLTR2	HP:0008494	Inferior lens subluxation	HP:0040283	ORPHA:39044
57105	CYSLTR2	HP:0011499	Mydriasis	HP:0040283	ORPHA:39044
57105	CYSLTR2	HP:0030786	Photopsia	HP:0040283	ORPHA:39044
57105	CYSLTR2	HP:0011524	Iris melanoma	HP:0040282	ORPHA:39044
57105	CYSLTR2	HP:0030800	Abnormal visual accommodation	HP:0040283	ORPHA:39044
57105	CYSLTR2	HP:0007902	Vitreous hemorrhage	HP:0040283	ORPHA:39044
57105	CYSLTR2	HP:0007906	Ocular hypertension	HP:0040283	ORPHA:39044
57105	CYSLTR2	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:39044
57105	CYSLTR2	HP:0000572	Visual loss	HP:0040281	ORPHA:39044
57105	CYSLTR2	HP:0000541	Retinal detachment	HP:0040282	ORPHA:39044
57105	CYSLTR2	HP:0000539	Abnormality of refraction	HP:0040283	ORPHA:39044
57107	PDSS2	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/1	OMIM:614652
57107	PDSS2	HP:0000093	Proteinuria	1/1	OMIM:614652
57107	PDSS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614652
57107	PDSS2	HP:0001319	Neonatal hypotonia	1/1	OMIM:614652
57107	PDSS2	HP:0000100	Nephrotic syndrome	1/1	OMIM:614652
57107	PDSS2	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:614652
57107	PDSS2	HP:0100704	Cerebral visual impairment	1/1	OMIM:614652
57107	PDSS2	HP:0011968	Feeding difficulties	1/1	OMIM:614652
57107	PDSS2	HP:0003623	Neonatal onset	1/1	OMIM:614652
57107	PDSS2	HP:0007183	Focal T2 hyperintense basal ganglia lesion	1/1	OMIM:614652
57107	PDSS2	HP:0003073	Hypoalbuminemia	1/1	OMIM:614652
57107	PDSS2	HP:0000969	Edema	1/1	OMIM:614652
57107	PDSS2	HP:0034369	Decreased level of coenzyme Q10 in skeletal muscle	1/1	OMIM:614652
57107	PDSS2	HP:0032663	Focal motor status epilepticus	1/1	OMIM:614652
57122	NUP107	HP:0001181	Adducted thumb	HP:0040283	ORPHA:2065
57122	NUP107	HP:0001166	Arachnodactyly	-	OMIM:618348
57122	NUP107	HP:0001166	Arachnodactyly	-	OMIM:616730
57122	NUP107	HP:0001166	Arachnodactyly	HP:0040284	ORPHA:243
57122	NUP107	HP:0003774	Stage 5 chronic kidney disease	11/12	OMIM:618348
57122	NUP107	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:616730
57122	NUP107	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
57122	NUP107	HP:0009944	Partial duplication of thumb phalanx	-	OMIM:616730
57122	NUP107	HP:0009944	Partial duplication of thumb phalanx	1/5	OMIM:618348
57122	NUP107	HP:0009888	Abnormality of secondary sexual hair	HP:0040281	ORPHA:243
57122	NUP107	HP:0002410	Aqueductal stenosis	HP:0040283	ORPHA:2065
57122	NUP107	HP:0001276	Hypertonia	HP:0040283	ORPHA:2065
57122	NUP107	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
57122	NUP107	HP:0001250	Seizure	HP:0040282	ORPHA:2065
57122	NUP107	HP:0001252	Hypotonia	HP:0040283	ORPHA:2065
57122	NUP107	HP:0001251	Ataxia	HP:0040284	ORPHA:243
57122	NUP107	HP:0001249	Intellectual disability	5/5	OMIM:618348
57122	NUP107	HP:0001263	Global developmental delay	-	OMIM:618348
57122	NUP107	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2065
57122	NUP107	HP:0001263	Global developmental delay	-	OMIM:616730
57122	NUP107	HP:0008684	Aplasia/hypoplasia of the uterus	HP:0040282	ORPHA:243
57122	NUP107	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:2065
57122	NUP107	HP:0003828	Variable expressivity	-	OMIM:616730
57122	NUP107	HP:0000097	Focal segmental glomerulosclerosis	3/7	OMIM:618348
57122	NUP107	HP:0000097	Focal segmental glomerulosclerosis	8/10	OMIM:616730
57122	NUP107	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
57122	NUP107	HP:0000093	Proteinuria	3/5	OMIM:618348
57122	NUP107	HP:0000093	Proteinuria	-	OMIM:616730
57122	NUP107	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
57122	NUP107	HP:0000093	Proteinuria	HP:0040281	ORPHA:2065
57122	NUP107	HP:0000092	Renal tubular atrophy	-	OMIM:618348
57122	NUP107	HP:0000092	Renal tubular atrophy	-	OMIM:616730
57122	NUP107	HP:0000062	Ambiguous genitalia	-	ORPHA:243
57122	NUP107	HP:0000013	Hypoplasia of the uterus	5/5	OMIM:618078
57122	NUP107	HP:0000007	Autosomal recessive inheritance	-	OMIM:618348
57122	NUP107	HP:0000007	Autosomal recessive inheritance	-	OMIM:618078
57122	NUP107	HP:0000007	Autosomal recessive inheritance	-	OMIM:616730
57122	NUP107	HP:0001302	Pachygyria	HP:0040282	ORPHA:2065
57122	NUP107	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:2065
57122	NUP107	HP:0000175	Cleft palate	-	OMIM:618348
57122	NUP107	HP:0000175	Cleft palate	-	OMIM:616730
57122	NUP107	HP:0000144	Decreased fertility	HP:0040281	ORPHA:243
57122	NUP107	HP:0410030	Cleft lip	-	OMIM:618348
57122	NUP107	HP:0410030	Cleft lip	-	OMIM:616730
57122	NUP107	HP:0000133	Gonadal dysgenesis	HP:0040280	ORPHA:243
57122	NUP107	HP:0000100	Nephrotic syndrome	-	OMIM:618348
57122	NUP107	HP:0000100	Nephrotic syndrome	-	OMIM:616730
57122	NUP107	HP:0000100	Nephrotic syndrome	HP:0040281	ORPHA:2065
57122	NUP107	HP:0000112	Nephropathy	HP:0040281	ORPHA:2065
57122	NUP107	HP:0002751	Kyphoscoliosis	1/5	OMIM:618348
57122	NUP107	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:243
57122	NUP107	HP:0002036	Hiatus hernia	HP:0040282	ORPHA:2065
57122	NUP107	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
57122	NUP107	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
57122	NUP107	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:2065
57122	NUP107	HP:0008197	Absence of pubertal development	5/5	OMIM:618078
57122	NUP107	HP:0010464	Streak ovary	HP:0040282	ORPHA:243
57122	NUP107	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2065
57122	NUP107	HP:0008209	Premature ovarian insufficiency	HP:0040280	ORPHA:243
57122	NUP107	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:243
57122	NUP107	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:2065
57122	NUP107	HP:0002225	Sparse pubic hair	HP:0040282	ORPHA:243
57122	NUP107	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:243
57122	NUP107	HP:0100720	Hypoplasia of the ear cartilage	HP:0040281	ORPHA:2065
57122	NUP107	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
57122	NUP107	HP:0003676	Progressive	-	OMIM:618348
57122	NUP107	HP:0003676	Progressive	-	OMIM:616730
57122	NUP107	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2065
57122	NUP107	HP:0002315	Headache	HP:0040283	ORPHA:656
57122	NUP107	HP:0003621	Juvenile onset	3/3	OMIM:618348
57122	NUP107	HP:0003621	Juvenile onset	5/5	OMIM:618078
57122	NUP107	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
57122	NUP107	HP:0001967	Diffuse mesangial sclerosis	-	OMIM:616730
57122	NUP107	HP:0001967	Diffuse mesangial sclerosis	-	OMIM:618348
57122	NUP107	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
57122	NUP107	HP:0001945	Fever	HP:0040283	ORPHA:656
57122	NUP107	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040283	ORPHA:243
57122	NUP107	HP:0000601	Hypotelorism	HP:0040283	ORPHA:2065
57122	NUP107	HP:0001999	Abnormal facial shape	HP:0040284	OMIM:618348
57122	NUP107	HP:0001999	Abnormal facial shape	HP:0040284	OMIM:616730
57122	NUP107	HP:0004322	Short stature	HP:0040284	OMIM:618348
57122	NUP107	HP:0004322	Short stature	HP:0040283	ORPHA:243
57122	NUP107	HP:0004322	Short stature	HP:0040282	ORPHA:2065
57122	NUP107	HP:0005625	Osteoporosis of vertebrae	HP:0040282	ORPHA:243
57122	NUP107	HP:0003073	Hypoalbuminemia	-	OMIM:616730
57122	NUP107	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
57122	NUP107	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:2065
57122	NUP107	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:243
57122	NUP107	HP:0000767	Pectus excavatum	1/5	OMIM:618348
57122	NUP107	HP:0000737	Irritability	HP:0040283	ORPHA:656
57122	NUP107	HP:0000750	Delayed speech and language development	-	OMIM:618348
57122	NUP107	HP:0000750	Delayed speech and language development	-	OMIM:616730
57122	NUP107	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
57122	NUP107	HP:0000794	IgA deposition in the glomerulus	HP:0040284	OMIM:616730
57122	NUP107	HP:0000794	IgA deposition in the glomerulus	1/5	OMIM:618348
57122	NUP107	HP:0000786	Primary amenorrhea	5/5	OMIM:618078
57122	NUP107	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:243
57122	NUP107	HP:0003124	Hypercholesterolemia	1/5	OMIM:618348
57122	NUP107	HP:0003124	Hypercholesterolemia	-	OMIM:616730
57122	NUP107	HP:0000924	Abnormality of the skeletal system	HP:0040284	OMIM:618348
57122	NUP107	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:243
57122	NUP107	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:243
57122	NUP107	HP:0000815	Hypergonadotropic hypogonadism	5/5	OMIM:618078
57122	NUP107	HP:0000823	Delayed puberty	HP:0040281	ORPHA:243
57122	NUP107	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:243
57122	NUP107	HP:0000954	Single transverse palmar crease	2/5	OMIM:618348
57122	NUP107	HP:0000969	Edema	2/5	OMIM:618348
57122	NUP107	HP:0000969	Edema	HP:0040281	ORPHA:656
57122	NUP107	HP:0000964	Eczematoid dermatitis	2/3	OMIM:618348
57122	NUP107	HP:0000938	Osteopenia	HP:0040282	ORPHA:243
57122	NUP107	HP:0005108	Abnormal intervertebral disk morphology	HP:0040283	ORPHA:2065
57122	NUP107	HP:0030084	Clinodactyly	1/5	OMIM:618348
57122	NUP107	HP:0030084	Clinodactyly	-	OMIM:616730
57122	NUP107	HP:0000252	Microcephaly	8/8	OMIM:618348
57122	NUP107	HP:0000252	Microcephaly	HP:0040284	ORPHA:243
57122	NUP107	HP:0000252	Microcephaly	HP:0040281	ORPHA:2065
57122	NUP107	HP:0000218	High palate	-	OMIM:618348
57122	NUP107	HP:0000218	High palate	-	OMIM:616730
57122	NUP107	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2065
57122	NUP107	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
57122	NUP107	HP:0000365	Hearing impairment	HP:0040283	ORPHA:243
57122	NUP107	HP:0000341	Narrow forehead	5/5	OMIM:618348
57122	NUP107	HP:0000341	Narrow forehead	-	OMIM:616730
57122	NUP107	HP:0000340	Sloping forehead	5/5	OMIM:618348
57122	NUP107	HP:0000340	Sloping forehead	-	OMIM:616730
57122	NUP107	HP:0000347	Micrognathia	5/5	OMIM:618348
57122	NUP107	HP:0000347	Micrognathia	HP:0040283	ORPHA:2065
57122	NUP107	HP:0000347	Micrognathia	-	OMIM:616730
57122	NUP107	HP:0000319	Smooth philtrum	4/5	OMIM:618348
57122	NUP107	HP:0000319	Smooth philtrum	-	OMIM:616730
57122	NUP107	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2065
57122	NUP107	HP:0001644	Dilated cardiomyopathy	HP:0040284	OMIM:618348
57122	NUP107	HP:0001644	Dilated cardiomyopathy	HP:0040284	OMIM:616730
57122	NUP107	HP:0001629	Ventricular septal defect	HP:0040284	OMIM:618348
57122	NUP107	HP:0001629	Ventricular septal defect	HP:0040284	OMIM:616730
57122	NUP107	HP:0001622	Premature birth	HP:0040282	ORPHA:2065
57122	NUP107	HP:0002967	Cubitus valgus	1/5	OMIM:618348
57122	NUP107	HP:0000400	Macrotia	HP:0040282	ORPHA:2065
57122	NUP107	HP:0001822	Hallux valgus	1/5	OMIM:618348
57122	NUP107	HP:0012579	Minimal change glomerulonephritis	-	OMIM:616730
57122	NUP107	HP:0012579	Minimal change glomerulonephritis	1/5	OMIM:618348
57122	NUP107	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
57128	LYRM4	HP:0002490	Increased CSF lactate	1/2	OMIM:615595
57128	LYRM4	HP:0002421	Poor head control	1/2	OMIM:615595
57128	LYRM4	HP:0001252	Hypotonia	1/2	OMIM:615595
57128	LYRM4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615595
57128	LYRM4	HP:0001319	Neonatal hypotonia	-	OMIM:615595
57128	LYRM4	HP:0001403	Macrovesicular hepatic steatosis	1/2	OMIM:615595
57128	LYRM4	HP:0001414	Microvesicular hepatic steatosis	1/2	OMIM:615595
57128	LYRM4	HP:0002020	Gastroesophageal reflux	1/2	OMIM:615595
57128	LYRM4	HP:0002033	Poor suck	1/2	OMIM:615595
57128	LYRM4	HP:0002098	Respiratory distress	2/2	OMIM:615595
57128	LYRM4	HP:0030948	Elevated gamma-glutamyltransferase level	1/2	OMIM:615595
57128	LYRM4	HP:0002240	Hepatomegaly	1/2	OMIM:615595
57128	LYRM4	HP:0003557	Increased variability in muscle fiber diameter	1/2	OMIM:615595
57128	LYRM4	HP:0011968	Feeding difficulties	1/2	OMIM:615595
57128	LYRM4	HP:0002395	Lower limb hyperreflexia	1/2	OMIM:615595
57128	LYRM4	HP:0003648	Lacticaciduria	2/2	OMIM:615595
57128	LYRM4	HP:0003623	Neonatal onset	2/2	OMIM:615595
57128	LYRM4	HP:0001946	Ketosis	1/2	OMIM:615595
57128	LYRM4	HP:0001942	Metabolic acidosis	2/2	OMIM:615595
57128	LYRM4	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/2	OMIM:615595
57128	LYRM4	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/2	OMIM:615595
57128	LYRM4	HP:0012707	Elevated brain lactate level by MRS	1/2	OMIM:615595
57128	LYRM4	HP:0030774	Mitochondrial swelling	1/2	OMIM:615595
57128	LYRM4	HP:0003128	Lactic acidosis	2/2	OMIM:615595
57128	LYRM4	HP:0010307	Stridor	2/2	OMIM:615595
57128	LYRM4	HP:0001508	Failure to thrive	2/2	OMIM:615595
57128	LYRM4	HP:0001612	Weak cry	1/2	OMIM:615595
57128	LYRM4	HP:0032988	Persistent head lag	1/2	OMIM:615595
57135	DAZ4	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:1646
57135	DAZ4	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:1646
57135	DAZ4	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1646
57135	DAZ4	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:1646
57135	DAZ4	HP:0000798	Oligozoospermia	HP:0040282	ORPHA:1646
57135	DAZ4	HP:0003251	Male infertility	HP:0040281	ORPHA:1646
57152	SLURP1	HP:0001155	Abnormality of the hand	HP:0040281	ORPHA:87503
57152	SLURP1	HP:0001156	Brachydactyly	-	OMIM:248300
57152	SLURP1	HP:0007447	Diffuse palmoplantar hyperkeratosis	HP:0040282	ORPHA:87503
57152	SLURP1	HP:0007404	Nonepidermolytic palmoplantar hyperkeratosis	HP:0040281	ORPHA:87503
57152	SLURP1	HP:0007390	Hyperkeratosis with erythema	HP:0040282	ORPHA:87503
57152	SLURP1	HP:0001218	Autoamputation	HP:0040282	ORPHA:87503
57152	SLURP1	HP:0001371	Flexion contracture	HP:0040282	ORPHA:87503
57152	SLURP1	HP:0007553	Congenital symmetrical palmoplantar keratosis	-	OMIM:248300
57152	SLURP1	HP:0031190	Superficial dermal perivascular inflammatory infiltrate	HP:0040281	ORPHA:87503
57152	SLURP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:248300
57152	SLURP1	HP:0033194	Perioral erythema	-	OMIM:248300
57152	SLURP1	HP:0003593	Infantile onset	-	OMIM:248300
57152	SLURP1	HP:0025092	Epidermal acanthosis	HP:0040282	ORPHA:87503
57152	SLURP1	HP:0010783	Erythema	HP:0040282	ORPHA:87503
57152	SLURP1	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:87503
57152	SLURP1	HP:0000975	Hyperhidrosis	-	OMIM:248300
57152	SLURP1	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:87503
57152	SLURP1	HP:0008064	Ichthyosis	HP:0040283	ORPHA:87503
57152	SLURP1	HP:0008064	Ichthyosis	-	OMIM:248300
57152	SLURP1	HP:0031452	Lichenoid skin lesion	HP:0040283	ORPHA:87503
57152	SLURP1	HP:0011123	Inflammatory abnormality of the skin	HP:0040281	ORPHA:87503
57152	SLURP1	HP:0001760	Abnormal foot morphology	HP:0040281	ORPHA:87503
57152	SLURP1	HP:0001808	Fragile nails	-	OMIM:248300
57156	TMEM63C	HP:0001256	Intellectual disability, mild	5/5	OMIM:619966
57156	TMEM63C	HP:0001260	Dysarthria	0/7	OMIM:619966
57156	TMEM63C	HP:0007350	Upper limb hyperreflexia	0/5	OMIM:619966
57156	TMEM63C	HP:0001347	Hyperreflexia	7/7	OMIM:619966
57156	TMEM63C	HP:0001332	Dystonia	0/5	OMIM:619966
57156	TMEM63C	HP:0000007	Autosomal recessive inheritance	-	OMIM:619966
57156	TMEM63C	HP:0002064	Spastic gait	7/7	OMIM:619966
57156	TMEM63C	HP:0002061	Lower limb spasticity	7/7	OMIM:619966
57156	TMEM63C	HP:0003487	Babinski sign	5/5	OMIM:619966
57156	TMEM63C	HP:0002194	Delayed gross motor development	7/7	OMIM:619966
57156	TMEM63C	HP:0003593	Infantile onset	5/7	OMIM:619966
57156	TMEM63C	HP:0002395	Lower limb hyperreflexia	7/7	OMIM:619966
57156	TMEM63C	HP:0000639	Nystagmus	1/7	OMIM:619966
57156	TMEM63C	HP:0006986	Upper limb spasticity	0/5	OMIM:619966
57156	TMEM63C	HP:0000750	Delayed speech and language development	1/7	OMIM:619966
57156	TMEM63C	HP:0011463	Childhood onset	2/7	OMIM:619966
57156	TMEM63C	HP:0002938	Lumbar hyperlordosis	4/7	OMIM:619966
57156	TMEM63C	HP:0000486	Strabismus	1/7	OMIM:619966
57158	JPH2	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
57158	JPH2	HP:0003819	Death in childhood	2/4	OMIM:619492
57158	JPH2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619492
57158	JPH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
57158	JPH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613873
57158	JPH2	HP:0002094	Dyspnea	3/3	OMIM:613873
57158	JPH2	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
57158	JPH2	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
57158	JPH2	HP:0004756	Ventricular tachycardia	HP:0040283	OMIM:613873
57158	JPH2	HP:0001962	Palpitations	1/3	OMIM:613873
57158	JPH2	HP:0011462	Young adult onset	3/3	OMIM:613873
57158	JPH2	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
57158	JPH2	HP:0003198	Myopathy	HP:0040283	ORPHA:154
57158	JPH2	HP:0010316	Ebstein anomaly of the tricuspid valve	1/4	OMIM:619492
57158	JPH2	HP:0000969	Edema	HP:0040282	ORPHA:154
57158	JPH2	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
57158	JPH2	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
57158	JPH2	HP:0005110	Atrial fibrillation	0/3	OMIM:613873
57158	JPH2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
57158	JPH2	HP:0001522	Death in infancy	2/4	OMIM:619492
57158	JPH2	HP:0012378	Fatigue	HP:0040282	ORPHA:154
57158	JPH2	HP:0001664	Torsade de pointes	1/46	OMIM:115000
57158	JPH2	HP:0001685	Myocardial fibrosis	-	OMIM:613873
57158	JPH2	HP:0001681	Angina pectoris	1/3	OMIM:613873
57158	JPH2	HP:0001645	Sudden cardiac death	-	OMIM:115000
57158	JPH2	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
57158	JPH2	HP:0001644	Dilated cardiomyopathy	4/4	OMIM:619492
57158	JPH2	HP:0001663	Ventricular fibrillation	-	OMIM:115000
57158	JPH2	HP:0001639	Hypertrophic cardiomyopathy	3/3	OMIM:613873
57158	JPH2	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
57158	JPH2	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
57158	JPH2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
57158	JPH2	HP:0006673	Reduced systolic function	1/1	OMIM:619492
57158	JPH2	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
57158	JPH2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
57158	JPH2	HP:0001712	Left ventricular hypertrophy	3/3	OMIM:613873
57165	GJC2	HP:0002465	Poor speech	-	OMIM:608804
57165	GJC2	HP:0007220	Demyelinating motor neuropathy	-	OMIM:608804
57165	GJC2	HP:0002421	Poor head control	5/5	OMIM:608804
57165	GJC2	HP:0002415	Leukodystrophy	-	OMIM:608804
57165	GJC2	HP:0003759	Hypoplasia of lymphatic vessels	HP:0040282	ORPHA:568051
57165	GJC2	HP:0001270	Motor delay	5/5	OMIM:608804
57165	GJC2	HP:0002599	Head titubation	-	OMIM:608804
57165	GJC2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:320401
57165	GJC2	HP:0001250	Seizure	-	OMIM:608804
57165	GJC2	HP:0001250	Seizure	HP:0040282	ORPHA:320401
57165	GJC2	HP:0001250	Seizure	1/3	OMIM:613206
57165	GJC2	HP:0001251	Ataxia	3/3	OMIM:613206
57165	GJC2	HP:0001251	Ataxia	5/5	OMIM:608804
57165	GJC2	HP:0001251	Ataxia	HP:0040281	ORPHA:320401
57165	GJC2	HP:0001266	Choreoathetosis	5/5	OMIM:608804
57165	GJC2	HP:0001260	Dysarthria	5/5	OMIM:608804
57165	GJC2	HP:0001260	Dysarthria	HP:0040281	ORPHA:320401
57165	GJC2	HP:0001260	Dysarthria	3/3	OMIM:613206
57165	GJC2	HP:0001263	Global developmental delay	-	OMIM:608804
57165	GJC2	HP:0001258	Spastic paraplegia	3/3	OMIM:613206
57165	GJC2	HP:0007377	Abnormality of somatosensory evoked potentials	HP:0040281	ORPHA:320401
57165	GJC2	HP:0003829	Typified by incomplete penetrance	-	OMIM:613480
57165	GJC2	HP:0000020	Urinary incontinence	1/3	OMIM:613206
57165	GJC2	HP:0001347	Hyperreflexia	3/3	OMIM:613206
57165	GJC2	HP:0007514	Edema of the dorsum of hands	HP:0040283	ORPHA:568051
57165	GJC2	HP:0031188	Genital edema	HP:0040284	ORPHA:568051
57165	GJC2	HP:0001332	Dystonia	-	OMIM:608804
57165	GJC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:608804
57165	GJC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613206
57165	GJC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613480
57165	GJC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
57165	GJC2	HP:0001310	Dysmetria	-	OMIM:613206
57165	GJC2	HP:0002650	Scoliosis	1/3	OMIM:613206
57165	GJC2	HP:0002619	Varicose veins	HP:0040283	ORPHA:568051
57165	GJC2	HP:0002619	Varicose veins	-	OMIM:153400
57165	GJC2	HP:0000175	Cleft palate	5/39	OMIM:153400
57165	GJC2	HP:0008936	Axial hypotonia	-	OMIM:608804
57165	GJC2	HP:0002019	Constipation	1/3	OMIM:613206
57165	GJC2	HP:0002080	Intention tremor	-	OMIM:608804
57165	GJC2	HP:0002080	Intention tremor	-	OMIM:613206
57165	GJC2	HP:0100543	Cognitive impairment	-	OMIM:608804
57165	GJC2	HP:0100543	Cognitive impairment	2/3	OMIM:613206
57165	GJC2	HP:0002063	Rigidity	-	OMIM:608804
57165	GJC2	HP:0002064	Spastic gait	3/3	OMIM:613206
57165	GJC2	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:320401
57165	GJC2	HP:0002061	Lower limb spasticity	3/3	OMIM:613206
57165	GJC2	HP:0003390	Sensory axonal neuropathy	-	OMIM:608804
57165	GJC2	HP:0002079	Hypoplasia of the corpus callosum	3/3	OMIM:613206
57165	GJC2	HP:0002059	Cerebral atrophy	-	OMIM:608804
57165	GJC2	HP:0003474	Somatic sensory dysfunction	HP:0040282	ORPHA:320401
57165	GJC2	HP:0003487	Babinski sign	-	OMIM:608804
57165	GJC2	HP:0003487	Babinski sign	3/3	OMIM:613206
57165	GJC2	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:608804
57165	GJC2	HP:0003429	CNS hypomyelination	HP:0040281	ORPHA:320401
57165	GJC2	HP:0003429	CNS hypomyelination	3/3	OMIM:613206
57165	GJC2	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:320401
57165	GJC2	HP:0002191	Progressive spasticity	-	OMIM:608804
57165	GJC2	HP:0003593	Infantile onset	6/28	OMIM:613480
57165	GJC2	HP:0003593	Infantile onset	5/5	OMIM:608804
57165	GJC2	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
57165	GJC2	HP:0003550	Predominantly lower limb lymphedema	HP:0040282	ORPHA:568051
57165	GJC2	HP:0100766	Abnormal lymphatic vessel morphology	HP:0040282	ORPHA:568051
57165	GJC2	HP:0009743	Distichiasis	42/42	OMIM:153400
57165	GJC2	HP:0010628	Facial palsy	5/5	OMIM:608804
57165	GJC2	HP:0002384	Focal impaired awareness seizure	3/5	OMIM:608804
57165	GJC2	HP:0001004	Lymphedema	-	OMIM:613480
57165	GJC2	HP:0001004	Lymphedema	-	OMIM:153400
57165	GJC2	HP:0002349	Focal aware seizure	1/5	OMIM:608804
57165	GJC2	HP:0002313	Spastic paraparesis	5/5	OMIM:608804
57165	GJC2	HP:0100658	Cellulitis	HP:0040283	ORPHA:568051
57165	GJC2	HP:0100658	Cellulitis	-	OMIM:613480
57165	GJC2	HP:0100658	Cellulitis	2/6	OMIM:153400
57165	GJC2	HP:0010741	Pedal edema	HP:0040282	ORPHA:568051
57165	GJC2	HP:0003621	Juvenile onset	2/3	OMIM:613206
57165	GJC2	HP:0003621	Juvenile onset	17/28	OMIM:613480
57165	GJC2	HP:0006808	Cerebral hypomyelination	-	OMIM:608804
57165	GJC2	HP:0000639	Nystagmus	0/3	OMIM:613206
57165	GJC2	HP:0000639	Nystagmus	5/5	OMIM:608804
57165	GJC2	HP:0000649	Abnormality of visual evoked potentials	HP:0040281	ORPHA:320401
57165	GJC2	HP:0000648	Optic atrophy	-	OMIM:608804
57165	GJC2	HP:0000613	Photophobia	10/49	OMIM:153400
57165	GJC2	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
57165	GJC2	HP:0000656	Ectropion	2/43	OMIM:153400
57165	GJC2	HP:0006986	Upper limb spasticity	3/3	OMIM:613206
57165	GJC2	HP:0006958	Abnormal auditory evoked potentials	HP:0040281	ORPHA:320401
57165	GJC2	HP:0003011	Abnormality of the musculature	-	OMIM:153400
57165	GJC2	HP:0011463	Childhood onset	1/3	OMIM:613206
57165	GJC2	HP:0011463	Childhood onset	2/28	OMIM:613480
57165	GJC2	HP:0011462	Young adult onset	3/28	OMIM:613480
57165	GJC2	HP:0012804	Corneal ulceration	-	OMIM:153400
57165	GJC2	HP:0012896	Abnormal motor evoked potentials	HP:0040281	ORPHA:320401
57165	GJC2	HP:0010310	Chylothorax	1/6	OMIM:153400
57165	GJC2	HP:0011675	Arrhythmia	-	OMIM:153400
57165	GJC2	HP:0000282	Facial edema	HP:0040283	ORPHA:568051
57165	GJC2	HP:0002808	Kyphosis	2/5	OMIM:153400
57165	GJC2	HP:0001583	Rotary nystagmus	-	OMIM:608804
57165	GJC2	HP:0001581	Recurrent skin infections	HP:0040283	ORPHA:568051
57165	GJC2	HP:0001581	Recurrent skin infections	-	OMIM:613480
57165	GJC2	HP:0000204	Cleft upper lip	-	OMIM:153400
57165	GJC2	HP:0002839	Urinary bladder sphincter dysfunction	HP:0040282	ORPHA:320401
57165	GJC2	HP:0002936	Distal sensory impairment	1/3	OMIM:613206
57165	GJC2	HP:0000347	Micrognathia	2/5	OMIM:153400
57165	GJC2	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
57165	GJC2	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
57165	GJC2	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
57165	GJC2	HP:0000407	Sensorineural hearing impairment	1/3	OMIM:613206
57165	GJC2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:320401
57165	GJC2	HP:0005293	Venous insufficiency	HP:0040283	ORPHA:568051
57165	GJC2	HP:0000486	Strabismus	2/3	OMIM:613206
57165	GJC2	HP:0000486	Strabismus	HP:0040281	ORPHA:320401
57165	GJC2	HP:0000476	Cystic hygroma	2/43	OMIM:153400
57165	GJC2	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
57165	GJC2	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
57165	GJC2	HP:0001785	Ankle swelling	HP:0040282	ORPHA:568051
57165	GJC2	HP:0000465	Webbed neck	6/43	OMIM:153400
57165	GJC2	HP:0001761	Pes cavus	HP:0040281	ORPHA:320401
57165	GJC2	HP:0001761	Pes cavus	3/3	OMIM:613206
57165	GJC2	HP:0000514	Slow saccadic eye movements	2/3	OMIM:613206
57165	GJC2	HP:0000509	Conjunctivitis	-	OMIM:153400
57165	GJC2	HP:0000508	Ptosis	2/39	OMIM:153400
57165	GJC2	HP:0000508	Ptosis	HP:0040284	ORPHA:568051
57165	GJC2	HP:0000568	Microphthalmia	1/6	OMIM:153400
57165	GJC2	HP:0000545	Myopia	-	OMIM:608804
57167	SALL4	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:233
57167	SALL4	HP:0001177	Preaxial hand polydactyly	HP:0040282	ORPHA:959
57167	SALL4	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:2307
57167	SALL4	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:959
57167	SALL4	HP:0001156	Brachydactyly	HP:0040283	ORPHA:233
57167	SALL4	HP:0001159	Syndactyly	-	OMIM:607323
57167	SALL4	HP:0025186	Marcus Gunn jaw winking synkinesis	HP:0040283	ORPHA:233
57167	SALL4	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:233
57167	SALL4	HP:0001199	Triphalangeal thumb	5/26	OMIM:147750
57167	SALL4	HP:0001199	Triphalangeal thumb	-	OMIM:607323
57167	SALL4	HP:0001199	Triphalangeal thumb	HP:0040282	ORPHA:959
57167	SALL4	HP:0001199	Triphalangeal thumb	HP:0040282	ORPHA:2307
57167	SALL4	HP:0009921	Duane anomaly	HP:0040281	ORPHA:233
57167	SALL4	HP:0009921	Duane anomaly	12/13	OMIM:607323
57167	SALL4	HP:0008588	Slit-like opening of the exterior auditory meatus	HP:0040283	OMIM:607323
57167	SALL4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
57167	SALL4	HP:0001293	Cranial nerve compression	-	OMIM:131300
57167	SALL4	HP:0001250	Seizure	HP:0040283	ORPHA:233
57167	SALL4	HP:0001252	Hypotonia	2/7	OMIM:615777
57167	SALL4	HP:0001249	Intellectual disability	5/7	OMIM:615777
57167	SALL4	HP:0001263	Global developmental delay	HP:0040283	ORPHA:233
57167	SALL4	HP:0001263	Global developmental delay	-	OMIM:615777
57167	SALL4	HP:0001245	Small thenar eminence	4/19	OMIM:147750
57167	SALL4	HP:0001245	Small thenar eminence	9/10	OMIM:607323
57167	SALL4	HP:0002566	Intestinal malrotation	-	OMIM:147750
57167	SALL4	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:959
57167	SALL4	HP:0007400	Irregular hyperpigmentation	HP:0040283	ORPHA:233
57167	SALL4	HP:0006064	Limited interphalangeal movement	-	OMIM:147750
57167	SALL4	HP:0008678	Renal hypoplasia/aplasia	HP:0040282	ORPHA:959
57167	SALL4	HP:0002515	Waddling gait	54/102	OMIM:131300
57167	SALL4	HP:0003834	Shoulder dislocation	5/5	OMIM:607323
57167	SALL4	HP:0000089	Renal hypoplasia	-	OMIM:607323
57167	SALL4	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:233
57167	SALL4	HP:0000085	Horseshoe kidney	-	OMIM:607323
57167	SALL4	HP:0000085	Horseshoe kidney	HP:0040281	ORPHA:959
57167	SALL4	HP:0000076	Vesicoureteral reflux	-	OMIM:607323
57167	SALL4	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:959
57167	SALL4	HP:0001387	Joint stiffness	HP:0040281	ORPHA:2307
57167	SALL4	HP:0001382	Joint hypermobility	-	OMIM:615777
57167	SALL4	HP:0000015	Bladder diverticulum	HP:0040282	ORPHA:959
57167	SALL4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
57167	SALL4	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:233
57167	SALL4	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:959
57167	SALL4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
57167	SALL4	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:2307
57167	SALL4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
57167	SALL4	HP:0001324	Muscle weakness	40/96	OMIM:131300
57167	SALL4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
57167	SALL4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
57167	SALL4	HP:0000006	Autosomal dominant inheritance	-	OMIM:607323
57167	SALL4	HP:0000006	Autosomal dominant inheritance	-	OMIM:147750
57167	SALL4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
57167	SALL4	HP:0002650	Scoliosis	9/19	OMIM:147750
57167	SALL4	HP:0002650	Scoliosis	HP:0040282	ORPHA:2307
57167	SALL4	HP:0002650	Scoliosis	12/14	OMIM:131300
57167	SALL4	HP:0002650	Scoliosis	-	OMIM:607323
57167	SALL4	HP:0003974	Absent radius	HP:0040283	ORPHA:233
57167	SALL4	HP:0003974	Absent radius	-	OMIM:607323
57167	SALL4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
57167	SALL4	HP:0002617	Vascular dilatation	-	OMIM:607323
57167	SALL4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
57167	SALL4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
57167	SALL4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
57167	SALL4	HP:0001498	Carpal bone hypoplasia	-	OMIM:147750
57167	SALL4	HP:0000175	Cleft palate	HP:0040283	ORPHA:233
57167	SALL4	HP:0000175	Cleft palate	2/7	OMIM:615777
57167	SALL4	HP:0000143	Rectovaginal fistula	1/26	OMIM:147750
57167	SALL4	HP:0000143	Rectovaginal fistula	HP:0040283	ORPHA:2307
57167	SALL4	HP:0008998	Pectoralis hypoplasia	1/13	OMIM:607323
57167	SALL4	HP:0008953	Pectoralis major hypoplasia	-	OMIM:147750
57167	SALL4	HP:0006248	Limited wrist movement	-	OMIM:147750
57167	SALL4	HP:0000126	Hydronephrosis	-	OMIM:607323
57167	SALL4	HP:0000104	Renal agenesis	-	OMIM:607323
57167	SALL4	HP:0002025	Anal stenosis	-	OMIM:607323
57167	SALL4	HP:0002023	Anal atresia	-	OMIM:607323
57167	SALL4	HP:0002023	Anal atresia	HP:0040283	ORPHA:2307
57167	SALL4	HP:0002023	Anal atresia	3/26	OMIM:147750
57167	SALL4	HP:0002007	Frontal bossing	5/26	OMIM:147750
57167	SALL4	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:233
57167	SALL4	HP:0003388	Easy fatigability	36/76	OMIM:131300
57167	SALL4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
57167	SALL4	HP:0009486	Radial deviation of the hand	-	OMIM:607323
57167	SALL4	HP:0004736	Crossed fused renal ectopia	HP:0040281	ORPHA:959
57167	SALL4	HP:0004736	Crossed fused renal ectopia	-	OMIM:607323
57167	SALL4	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:959
57167	SALL4	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040283	ORPHA:233
57167	SALL4	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:233
57167	SALL4	HP:0004712	Renal malrotation	HP:0040281	ORPHA:959
57167	SALL4	HP:0004712	Renal malrotation	-	OMIM:607323
57167	SALL4	HP:0003577	Congenital onset	-	OMIM:147750
57167	SALL4	HP:0003577	Congenital onset	13/13	OMIM:607323
57167	SALL4	HP:0002251	Aganglionic megacolon	1/13	OMIM:607323
57167	SALL4	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:959
57167	SALL4	HP:0009702	Carpal synostosis	8/19	OMIM:147750
57167	SALL4	HP:0009650	Short distal phalanx of the thumb	HP:0040281	ORPHA:959
57167	SALL4	HP:0010628	Facial palsy	-	OMIM:607323
57167	SALL4	HP:0003510	Severe short stature	7/7	OMIM:615777
57167	SALL4	HP:0003510	Severe short stature	HP:0040281	ORPHA:2307
57167	SALL4	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:233
57167	SALL4	HP:0002315	Headache	-	OMIM:131300
57167	SALL4	HP:0004976	Knee dislocation	6/7	OMIM:615777
57167	SALL4	HP:0009824	Upper limb undergrowth	10/26	OMIM:147750
57167	SALL4	HP:0009803	Short phalanx of finger	-	OMIM:615777
57167	SALL4	HP:0009777	Absent thumb	8/26	OMIM:147750
57167	SALL4	HP:0009777	Absent thumb	-	OMIM:607323
57167	SALL4	HP:0009778	Short thumb	-	OMIM:607323
57167	SALL4	HP:0009778	Short thumb	HP:0040281	ORPHA:959
57167	SALL4	HP:0009778	Short thumb	HP:0040282	ORPHA:2307
57167	SALL4	HP:0009778	Short thumb	8/26	OMIM:147750
57167	SALL4	HP:0009763	Limb pain	63/92	OMIM:131300
57167	SALL4	HP:0003621	Juvenile onset	-	OMIM:131300
57167	SALL4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
57167	SALL4	HP:0010059	Broad hallux phalanx	HP:0040282	ORPHA:959
57167	SALL4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
57167	SALL4	HP:0000639	Nystagmus	HP:0040283	ORPHA:233
57167	SALL4	HP:0000639	Nystagmus	HP:0040283	ORPHA:959
57167	SALL4	HP:0000634	Impaired ocular abduction	HP:0040282	ORPHA:233
57167	SALL4	HP:0000634	Impaired ocular abduction	-	OMIM:607323
57167	SALL4	HP:6001056	Out-toeing	-	OMIM:131300
57167	SALL4	HP:0000651	Diplopia	-	OMIM:131300
57167	SALL4	HP:0000646	Amblyopia	HP:0040283	ORPHA:233
57167	SALL4	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:2307
57167	SALL4	HP:0001974	Increased total leukocyte count	-	OMIM:147750
57167	SALL4	HP:0000643	Blepharospasm	HP:0040283	ORPHA:233
57167	SALL4	HP:0000619	Impaired convergence	-	OMIM:607323
57167	SALL4	HP:0000612	Iris coloboma	-	OMIM:607323
57167	SALL4	HP:0000612	Iris coloboma	HP:0040283	ORPHA:959
57167	SALL4	HP:0000612	Iris coloboma	HP:0040283	ORPHA:233
57167	SALL4	HP:0000615	Abnormal pupil morphology	HP:0040283	ORPHA:233
57167	SALL4	HP:0001956	Truncal obesity	2/7	OMIM:615777
57167	SALL4	HP:0001903	Anemia	HP:0040283	OMIM:131300
57167	SALL4	HP:0010049	Short metacarpal	-	OMIM:615777
57167	SALL4	HP:0010048	Aplasia of metacarpal bones	-	OMIM:607323
57167	SALL4	HP:0011386	Narrow internal auditory canal	HP:0040283	ORPHA:233
57167	SALL4	HP:0010034	Short 1st metacarpal	-	OMIM:147750
57167	SALL4	HP:0011365	Patchy hypopigmentation of hair	HP:0040283	ORPHA:233
57167	SALL4	HP:0000678	Dental crowding	-	OMIM:615777
57167	SALL4	HP:0009016	Upper limb muscle hypoplasia	-	OMIM:607323
57167	SALL4	HP:0000661	Palpebral fissure narrowing on adduction	-	OMIM:607323
57167	SALL4	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:233
57167	SALL4	HP:0000670	Carious teeth	-	OMIM:131300
57167	SALL4	HP:0011304	Broad thumb	2/7	OMIM:615777
57167	SALL4	HP:0000668	Hypodontia	-	OMIM:615777
57167	SALL4	HP:0000664	Synophrys	-	OMIM:615777
57167	SALL4	HP:0005640	Abnormal vertebral segmentation and fusion	HP:0040282	ORPHA:233
57167	SALL4	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:233
57167	SALL4	HP:0004396	Poor appetite	-	OMIM:131300
57167	SALL4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
57167	SALL4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
57167	SALL4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
57167	SALL4	HP:0003026	Short long bone	7/7	OMIM:615777
57167	SALL4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
57167	SALL4	HP:0003022	Hypoplasia of the ulna	4/26	OMIM:147750
57167	SALL4	HP:0003022	Hypoplasia of the ulna	4/4	OMIM:607323
57167	SALL4	HP:0003022	Hypoplasia of the ulna	HP:0040282	ORPHA:959
57167	SALL4	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:959
57167	SALL4	HP:0012745	Short palpebral fissure	HP:0040281	ORPHA:233
57167	SALL4	HP:0012732	Anorectal anomaly	HP:0040283	ORPHA:233
57167	SALL4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
57167	SALL4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
57167	SALL4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
57167	SALL4	HP:0000750	Delayed speech and language development	-	OMIM:615777
57167	SALL4	HP:0011461	Fetal onset	7/7	OMIM:615777
57167	SALL4	HP:0010109	Short hallux	HP:0040282	ORPHA:959
57167	SALL4	HP:0000774	Narrow chest	2/7	OMIM:615777
57167	SALL4	HP:0000926	Platyspondyly	1/7	OMIM:615777
57167	SALL4	HP:0003180	Flat acetabular roof	-	OMIM:615777
57167	SALL4	HP:0004482	Relative macrocephaly	-	OMIM:615777
57167	SALL4	HP:0005792	Short humerus	-	OMIM:607323
57167	SALL4	HP:0005792	Short humerus	HP:0040283	ORPHA:959
57167	SALL4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
57167	SALL4	HP:0003097	Short femur	8/8	OMIM:147750
57167	SALL4	HP:0000823	Delayed puberty	-	OMIM:131300
57167	SALL4	HP:0000894	Short clavicles	4/26	OMIM:147750
57167	SALL4	HP:0000894	Short clavicles	-	OMIM:615777
57167	SALL4	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:233
57167	SALL4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
57167	SALL4	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:233
57167	SALL4	HP:0003298	Spina bifida occulta	-	OMIM:607323
57167	SALL4	HP:0100258	Preaxial polydactyly	6/26	OMIM:147750
57167	SALL4	HP:0100258	Preaxial polydactyly	-	OMIM:607323
57167	SALL4	HP:0100274	Gustatory lacrimation	HP:0040283	ORPHA:233
57167	SALL4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
57167	SALL4	HP:0011675	Arrhythmia	HP:0040283	ORPHA:2307
57167	SALL4	HP:0000286	Epicanthus	HP:0040283	ORPHA:959
57167	SALL4	HP:0000286	Epicanthus	-	OMIM:607323
57167	SALL4	HP:0000286	Epicanthus	1/7	OMIM:615777
57167	SALL4	HP:0000280	Coarse facial features	2/7	OMIM:615777
57167	SALL4	HP:0012246	Oculomotor nerve palsy	HP:0040281	ORPHA:233
57167	SALL4	HP:0007766	Optic disc hypoplasia	HP:0040283	ORPHA:233
57167	SALL4	HP:0007766	Optic disc hypoplasia	HP:0040282	ORPHA:959
57167	SALL4	HP:0007766	Optic disc hypoplasia	-	OMIM:607323
57167	SALL4	HP:0002818	Abnormal morphology of the radius	HP:0040281	ORPHA:959
57167	SALL4	HP:0002827	Hip dislocation	3/7	OMIM:615777
57167	SALL4	HP:0005048	Synostosis of carpal bones	HP:0040282	ORPHA:2307
57167	SALL4	HP:0000252	Microcephaly	HP:0040283	ORPHA:233
57167	SALL4	HP:0000252	Microcephaly	-	OMIM:615777
57167	SALL4	HP:0033980	Paroxysmal tonic upgaze	3/4	OMIM:147750
57167	SALL4	HP:0000232	Everted lower lip vermilion	HP:0040283	ORPHA:233
57167	SALL4	HP:0002857	Genu valgum	-	OMIM:131300
57167	SALL4	HP:0001533	Slender build	-	OMIM:131300
57167	SALL4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
57167	SALL4	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:959
57167	SALL4	HP:0007818	Central heterochromia	HP:0040283	ORPHA:233
57167	SALL4	HP:0007807	Optic nerve compression	-	OMIM:131300
57167	SALL4	HP:0012385	Camptodactyly	HP:0040283	ORPHA:233
57167	SALL4	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:233
57167	SALL4	HP:0012368	Flat face	7/7	OMIM:615777
57167	SALL4	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:233
57167	SALL4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
57167	SALL4	HP:0002948	Vertebral fusion	HP:0040283	ORPHA:959
57167	SALL4	HP:0002949	Fused cervical vertebrae	1/13	OMIM:607323
57167	SALL4	HP:0000365	Hearing impairment	22/24	OMIM:147750
57167	SALL4	HP:0000365	Hearing impairment	HP:0040281	ORPHA:2307
57167	SALL4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:233
57167	SALL4	HP:0000365	Hearing impairment	10/67	OMIM:131300
57167	SALL4	HP:0000343	Long philtrum	1/7	OMIM:615777
57167	SALL4	HP:0011001	Increased bone mineral density	-	OMIM:131300
57167	SALL4	HP:0002996	Limited elbow movement	-	OMIM:147750
57167	SALL4	HP:0000347	Micrognathia	HP:0040283	ORPHA:233
57167	SALL4	HP:0000316	Hypertelorism	HP:0040283	ORPHA:959
57167	SALL4	HP:0000316	Hypertelorism	-	OMIM:607323
57167	SALL4	HP:0001643	Patent ductus arteriosus	1/26	OMIM:147750
57167	SALL4	HP:0000311	Round face	2/7	OMIM:615777
57167	SALL4	HP:0002974	Radioulnar synostosis	-	OMIM:147750
57167	SALL4	HP:0002974	Radioulnar synostosis	HP:0040282	ORPHA:2307
57167	SALL4	HP:0002984	Hypoplasia of the radius	HP:0040283	ORPHA:233
57167	SALL4	HP:0002984	Hypoplasia of the radius	-	OMIM:147750
57167	SALL4	HP:0002984	Hypoplasia of the radius	4/4	OMIM:607323
57167	SALL4	HP:0002984	Hypoplasia of the radius	HP:0040281	ORPHA:2307
57167	SALL4	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:233
57167	SALL4	HP:0000324	Facial asymmetry	-	OMIM:607323
57167	SALL4	HP:0001629	Ventricular septal defect	-	OMIM:607323
57167	SALL4	HP:0002970	Genu varum	-	OMIM:615777
57167	SALL4	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:959
57167	SALL4	HP:0001636	Tetralogy of Fallot	1/26	OMIM:147750
57167	SALL4	HP:0001631	Atrial septal defect	-	OMIM:607323
57167	SALL4	HP:0000303	Mandibular prognathia	-	OMIM:131300
57167	SALL4	HP:0004059	Radial club hand	HP:0040282	ORPHA:959
57167	SALL4	HP:0007990	Hypoplastic iris stroma	HP:0040283	ORPHA:233
57167	SALL4	HP:0006660	Aplastic clavicle	HP:0040283	ORPHA:2307
57167	SALL4	HP:0001739	Abnormal nasopharynx morphology	-	OMIM:607323
57167	SALL4	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:233
57167	SALL4	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:959
57167	SALL4	HP:0000407	Sensorineural hearing impairment	2/13	OMIM:607323
57167	SALL4	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:959
57167	SALL4	HP:0000402	Stenosis of the external auditory canal	HP:0040283	ORPHA:233
57167	SALL4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
57167	SALL4	HP:0000486	Strabismus	2/26	OMIM:147750
57167	SALL4	HP:0000486	Strabismus	HP:0040281	ORPHA:2307
57167	SALL4	HP:0000486	Strabismus	HP:0040281	ORPHA:233
57167	SALL4	HP:0000486	Strabismus	HP:0040282	ORPHA:959
57167	SALL4	HP:0000486	Strabismus	-	OMIM:607323
57167	SALL4	HP:0000480	Retinal coloboma	-	OMIM:607323
57167	SALL4	HP:0000482	Microcornea	HP:0040283	ORPHA:959
57167	SALL4	HP:0000482	Microcornea	HP:0040283	ORPHA:233
57167	SALL4	HP:0000496	Abnormality of eye movement	HP:0040281	ORPHA:233
57167	SALL4	HP:0000490	Deeply set eye	HP:0040282	ORPHA:233
57167	SALL4	HP:0000463	Anteverted nares	HP:0040282	ORPHA:233
57167	SALL4	HP:0030241	Hypoplasia of deltoid muscle	-	OMIM:147750
57167	SALL4	HP:0000470	Short neck	HP:0040283	ORPHA:233
57167	SALL4	HP:0000470	Short neck	1/7	OMIM:615777
57167	SALL4	HP:0000465	Webbed neck	HP:0040283	ORPHA:233
57167	SALL4	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:959
57167	SALL4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
57167	SALL4	HP:0001763	Pes planus	-	OMIM:607323
57167	SALL4	HP:0001763	Pes planus	1/7	OMIM:615777
57167	SALL4	HP:0000453	Choanal atresia	-	OMIM:607323
57167	SALL4	HP:0000452	Choanal stenosis	-	OMIM:607323
57167	SALL4	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:233
57167	SALL4	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:233
57167	SALL4	HP:0031705	Compensatory head posture	HP:0040283	ORPHA:233
57167	SALL4	HP:0000518	Cataract	HP:0040283	ORPHA:959
57167	SALL4	HP:0000518	Cataract	-	OMIM:607323
57167	SALL4	HP:0001840	Metatarsus adductus	-	OMIM:615777
57167	SALL4	HP:0000526	Aniridia	HP:0040283	ORPHA:233
57167	SALL4	HP:0001852	Sandal gap	-	OMIM:607323
57167	SALL4	HP:0001852	Sandal gap	HP:0040282	ORPHA:959
57167	SALL4	HP:0000520	Proptosis	2/4	OMIM:131300
57167	SALL4	HP:0000520	Proptosis	7/7	OMIM:615777
57167	SALL4	HP:0000508	Ptosis	HP:0040283	ORPHA:233
57167	SALL4	HP:0000508	Ptosis	HP:0040283	ORPHA:959
57167	SALL4	HP:0000505	Visual impairment	HP:0040282	ORPHA:959
57167	SALL4	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:233
57167	SALL4	HP:0000592	Blue sclerae	2/7	OMIM:615777
57167	SALL4	HP:0000589	Coloboma	HP:0040283	ORPHA:959
57167	SALL4	HP:0000588	Optic disc coloboma	HP:0040282	ORPHA:959
57167	SALL4	HP:0000568	Microphthalmia	HP:0040283	ORPHA:959
57167	SALL4	HP:0000568	Microphthalmia	95%	OMIM:607323
57167	SALL4	HP:0000567	Chorioretinal coloboma	HP:0040283	ORPHA:233
57167	SALL4	HP:0000567	Chorioretinal coloboma	HP:0040283	ORPHA:959
57167	SALL4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
57167	SALL4	HP:0001883	Talipes	HP:0040283	ORPHA:959
57167	SALL4	HP:0012514	Lower limb pain	4/4	OMIM:131300
57167	SALL4	HP:0000542	Impaired ocular adduction	HP:0040282	ORPHA:233
57167	SALL4	HP:0000542	Impaired ocular adduction	-	OMIM:607323
57167	SALL4	HP:0001873	Thrombocytopenia	13/21	OMIM:147750
57167	SALL4	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:2307
57167	SALL4	HP:0000544	External ophthalmoplegia	-	OMIM:147750
57169	ZNFX1	HP:0002480	Hepatic encephalopathy	1/15	OMIM:619644
57169	ZNFX1	HP:0032271	Extrapulmonary tuberculosis	2/4	OMIM:619644
57169	ZNFX1	HP:0001250	Seizure	7/15	OMIM:619644
57169	ZNFX1	HP:0001263	Global developmental delay	1/4	OMIM:619644
57169	ZNFX1	HP:0002514	Cerebral calcification	3/15	OMIM:619644
57169	ZNFX1	HP:0003819	Death in childhood	4/15	OMIM:619644
57169	ZNFX1	HP:0000083	Renal insufficiency	4/15	OMIM:619644
57169	ZNFX1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619644
57169	ZNFX1	HP:0012156	Hemophagocytosis	6/15	OMIM:619644
57169	ZNFX1	HP:0025435	Increased circulating lactate dehydrogenase concentration	10/15	OMIM:619644
57169	ZNFX1	HP:0002783	Recurrent lower respiratory tract infections	6/15	OMIM:619644
57169	ZNFX1	HP:0000100	Nephrotic syndrome	3/15	OMIM:619644
57169	ZNFX1	HP:0001433	Hepatosplenomegaly	2/4	OMIM:619644
57169	ZNFX1	HP:0002716	Lymphadenopathy	2/4	OMIM:619644
57169	ZNFX1	HP:0011897	Increased total neutrophil count	1/4	OMIM:619644
57169	ZNFX1	HP:0003593	Infantile onset	2/4	OMIM:619644
57169	ZNFX1	HP:0002240	Hepatomegaly	13/15	OMIM:619644
57169	ZNFX1	HP:0100702	Arachnoid cyst	1/4	OMIM:619644
57169	ZNFX1	HP:0002254	Intermittent diarrhea	1/4	OMIM:619644
57169	ZNFX1	HP:0003565	Elevated erythrocyte sedimentation rate	1/4	OMIM:619644
57169	ZNFX1	HP:0002202	Pleural effusion	1/4	OMIM:619644
57169	ZNFX1	HP:0033399	Persistent fever	1/4	OMIM:619644
57169	ZNFX1	HP:0020087	BCGosis	1/4	OMIM:619644
57169	ZNFX1	HP:0002384	Focal impaired awareness seizure	1/4	OMIM:619644
57169	ZNFX1	HP:0003621	Juvenile onset	1/4	OMIM:619644
57169	ZNFX1	HP:0005575	Hemolytic-uremic syndrome	1/15	OMIM:619644
57169	ZNFX1	HP:0005548	Megakaryocytopenia	1/4	OMIM:619644
57169	ZNFX1	HP:0001954	Recurrent fever	1/4	OMIM:619644
57169	ZNFX1	HP:0000729	Autistic behavior	2/15	OMIM:619644
57169	ZNFX1	HP:0011463	Childhood onset	1/4	OMIM:619644
57169	ZNFX1	HP:0000793	Membranoproliferative glomerulonephritis	1/15	OMIM:619644
57169	ZNFX1	HP:0040223	Pulmonary hemorrhage	6/15	OMIM:619644
57169	ZNFX1	HP:0000969	Edema	1/4	OMIM:619644
57169	ZNFX1	HP:0040186	Maculopapular exanthema	1/4	OMIM:619644
57169	ZNFX1	HP:0040197	Encephalomalacia	1/4	OMIM:619644
57169	ZNFX1	HP:0001522	Death in infancy	7/15	OMIM:619644
57169	ZNFX1	HP:0001508	Failure to thrive	1/4	OMIM:619644
57169	ZNFX1	HP:0006554	Acute hepatic failure	3/15	OMIM:619644
57169	ZNFX1	HP:0006530	Abnormal pulmonary interstitial morphology	1/4	OMIM:619644
57169	ZNFX1	HP:0006532	Recurrent pneumonia	1/4	OMIM:619644
57169	ZNFX1	HP:0002910	Elevated circulating hepatic transaminase concentration	12/15	OMIM:619644
57169	ZNFX1	HP:0012311	Increased total monocyte count	3/4	OMIM:619644
57169	ZNFX1	HP:0031691	Severe viral infection	15/15	OMIM:619644
57169	ZNFX1	HP:0011227	Elevated circulating C-reactive protein concentration	1/4	OMIM:619644
57169	ZNFX1	HP:0001873	Thrombocytopenia	2/4	OMIM:619644
57176	VARS2	HP:0010851	EEG with burst suppression	1/1	OMIM:615917
57176	VARS2	HP:0001276	Hypertonia	1/1	OMIM:615917
57176	VARS2	HP:0001252	Hypotonia	1/1	OMIM:615917
57176	VARS2	HP:0001251	Ataxia	1/1	OMIM:615917
57176	VARS2	HP:0001263	Global developmental delay	HP:0040283	OMIM:615917
57176	VARS2	HP:0007359	Focal-onset seizure	1/1	OMIM:615917
57176	VARS2	HP:0001324	Muscle weakness	1/1	OMIM:615917
57176	VARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615917
57176	VARS2	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:615917
57176	VARS2	HP:0003348	Hyperalaninemia	1/1	OMIM:615917
57176	VARS2	HP:0002093	Respiratory insufficiency	1/1	OMIM:615917
57176	VARS2	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:615917
57176	VARS2	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:615917
57176	VARS2	HP:0003593	Infantile onset	1/1	OMIM:615917
57176	VARS2	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:615917
57176	VARS2	HP:0003623	Neonatal onset	1/1	OMIM:615917
57176	VARS2	HP:0030682	Left ventricular noncompaction	1/1	OMIM:615917
57176	VARS2	HP:0012707	Elevated brain lactate level by MRS	1/1	OMIM:615917
57176	VARS2	HP:0003128	Lactic acidosis	1/1	OMIM:615917
57176	VARS2	HP:0000252	Microcephaly	-	OMIM:615917
57176	VARS2	HP:0001518	Small for gestational age	1/1	OMIM:615917
57176	VARS2	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:615917
57176	VARS2	HP:0000508	Ptosis	1/1	OMIM:615917
57176	VARS2	HP:0000590	Progressive external ophthalmoplegia	1/1	OMIM:615917
57178	ZMIZ1	HP:0001182	Tapered finger	-	OMIM:618659
57178	ZMIZ1	HP:0001156	Brachydactyly	-	OMIM:618659
57178	ZMIZ1	HP:0009921	Duane anomaly	-	OMIM:618659
57178	ZMIZ1	HP:0009904	Prominent ear helix	-	OMIM:618659
57178	ZMIZ1	HP:0100807	Long fingers	-	OMIM:618659
57178	ZMIZ1	HP:0001272	Cerebellar atrophy	-	OMIM:618659
57178	ZMIZ1	HP:0001270	Motor delay	12/16	OMIM:618659
57178	ZMIZ1	HP:0001250	Seizure	3/18	OMIM:618659
57178	ZMIZ1	HP:0001252	Hypotonia	10/16	OMIM:618659
57178	ZMIZ1	HP:0001249	Intellectual disability	19/19	OMIM:618659
57178	ZMIZ1	HP:0001263	Global developmental delay	-	OMIM:618659
57178	ZMIZ1	HP:0032388	Periventricular nodular heterotopia	-	OMIM:618659
57178	ZMIZ1	HP:0000076	Vesicoureteral reflux	-	OMIM:618659
57178	ZMIZ1	HP:0001382	Joint hypermobility	8/18	OMIM:618659
57178	ZMIZ1	HP:0000047	Hypospadias	-	OMIM:618659
57178	ZMIZ1	HP:0000028	Cryptorchidism	-	OMIM:618659
57178	ZMIZ1	HP:0008872	Feeding difficulties in infancy	-	OMIM:618659
57178	ZMIZ1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618659
57178	ZMIZ1	HP:0002650	Scoliosis	-	OMIM:618659
57178	ZMIZ1	HP:0000160	Narrow mouth	-	OMIM:618659
57178	ZMIZ1	HP:0000154	Wide mouth	-	OMIM:618659
57178	ZMIZ1	HP:0002019	Constipation	-	OMIM:618659
57178	ZMIZ1	HP:0004691	2-3 toe syndactyly	-	OMIM:618659
57178	ZMIZ1	HP:0011800	Midface retrusion	-	OMIM:618659
57178	ZMIZ1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:618659
57178	ZMIZ1	HP:0002059	Cerebral atrophy	-	OMIM:618659
57178	ZMIZ1	HP:0002119	Ventriculomegaly	-	OMIM:618659
57178	ZMIZ1	HP:0002188	Delayed CNS myelination	-	OMIM:618659
57178	ZMIZ1	HP:0010579	Cone-shaped epiphysis	-	OMIM:618659
57178	ZMIZ1	HP:0002263	Exaggerated cupid's bow	-	OMIM:618659
57178	ZMIZ1	HP:0003593	Infantile onset	-	OMIM:618659
57178	ZMIZ1	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:618659
57178	ZMIZ1	HP:0009765	Low hanging columella	-	OMIM:618659
57178	ZMIZ1	HP:0000646	Amblyopia	-	OMIM:618659
57178	ZMIZ1	HP:0010055	Broad hallux	-	OMIM:618659
57178	ZMIZ1	HP:0000767	Pectus excavatum	1/17	OMIM:618659
57178	ZMIZ1	HP:0000750	Delayed speech and language development	15/17	OMIM:618659
57178	ZMIZ1	HP:0000718	Aggressive behavior	-	OMIM:618659
57178	ZMIZ1	HP:0000729	Autistic behavior	-	OMIM:618659
57178	ZMIZ1	HP:0009381	Short finger	-	OMIM:618659
57178	ZMIZ1	HP:0000286	Epicanthus	-	OMIM:618659
57178	ZMIZ1	HP:0000297	Facial hypotonia	-	OMIM:618659
57178	ZMIZ1	HP:0001510	Growth delay	10/16	OMIM:618659
57178	ZMIZ1	HP:0000365	Hearing impairment	4/19	OMIM:618659
57178	ZMIZ1	HP:0000369	Low-set ears	-	OMIM:618659
57178	ZMIZ1	HP:0000343	Long philtrum	-	OMIM:618659
57178	ZMIZ1	HP:0000347	Micrognathia	-	OMIM:618659
57178	ZMIZ1	HP:0000319	Smooth philtrum	-	OMIM:618659
57178	ZMIZ1	HP:0000316	Hypertelorism	-	OMIM:618659
57178	ZMIZ1	HP:0001643	Patent ductus arteriosus	-	OMIM:618659
57178	ZMIZ1	HP:0000483	Astigmatism	-	OMIM:618659
57178	ZMIZ1	HP:0000494	Downslanted palpebral fissures	-	OMIM:618659
57178	ZMIZ1	HP:0000431	Wide nasal bridge	-	OMIM:618659
57178	ZMIZ1	HP:0000426	Prominent nasal bridge	-	OMIM:618659
57178	ZMIZ1	HP:0001822	Hallux valgus	-	OMIM:618659
57178	ZMIZ1	HP:0000508	Ptosis	-	OMIM:618659
57178	ZMIZ1	HP:0000501	Glaucoma	-	OMIM:618659
57178	ZMIZ1	HP:0001831	Short toe	-	OMIM:618659
57178	ZMIZ1	HP:0012585	Renal atrophy	-	OMIM:618659
57178	ZMIZ1	HP:0000582	Upslanted palpebral fissure	-	OMIM:618659
57178	ZMIZ1	HP:0000589	Coloboma	-	OMIM:618659
57187	THOC2	HP:0002487	Hyperkinetic movements	8/38	OMIM:300957
57187	THOC2	HP:0002487	Hyperkinetic movements	HP:0040283	ORPHA:457240
57187	THOC2	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:457240
57187	THOC2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:457240
57187	THOC2	HP:0001288	Gait disturbance	18/38	OMIM:300957
57187	THOC2	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:457240
57187	THOC2	HP:0001250	Seizure	8/38	OMIM:300957
57187	THOC2	HP:0001250	Seizure	HP:0040283	ORPHA:457240
57187	THOC2	HP:0001252	Hypotonia	22/36	OMIM:300957
57187	THOC2	HP:0001252	Hypotonia	HP:0040282	ORPHA:457240
57187	THOC2	HP:0001249	Intellectual disability	37/38	OMIM:300957
57187	THOC2	HP:0001257	Spasticity	5/38	OMIM:300957
57187	THOC2	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:457240
57187	THOC2	HP:0002500	Abnormal cerebral white matter morphology	15/32	OMIM:300957
57187	THOC2	HP:0000054	Micropenis	HP:0040283	ORPHA:457240
57187	THOC2	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:457240
57187	THOC2	HP:0001382	Joint hypermobility	2/38	OMIM:300957
57187	THOC2	HP:0000028	Cryptorchidism	7/32	OMIM:300957
57187	THOC2	HP:0001337	Tremor	HP:0040282	ORPHA:457240
57187	THOC2	HP:0001337	Tremor	10/38	OMIM:300957
57187	THOC2	HP:0001320	Cerebellar vermis hypoplasia	1/6	OMIM:300957
57187	THOC2	HP:0001317	Abnormal cerebellum morphology	6/32	OMIM:300957
57187	THOC2	HP:0001419	X-linked recessive inheritance	-	OMIM:300957
57187	THOC2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:457240
57187	THOC2	HP:0002119	Ventriculomegaly	14/32	OMIM:300957
57187	THOC2	HP:0002171	Gliosis	1/6	OMIM:300957
57187	THOC2	HP:0002171	Gliosis	HP:0040283	ORPHA:457240
57187	THOC2	HP:0002269	Abnormality of neuronal migration	6/32	OMIM:300957
57187	THOC2	HP:0002206	Pulmonary fibrosis	HP:0040283	ORPHA:457240
57187	THOC2	HP:0007033	Cerebellar dysplasia	HP:0040283	ORPHA:457240
57187	THOC2	HP:0011968	Feeding difficulties	7/38	OMIM:300957
57187	THOC2	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:457240
57187	THOC2	HP:0000639	Nystagmus	2/38	OMIM:300957
57187	THOC2	HP:0000639	Nystagmus	HP:0040283	ORPHA:457240
57187	THOC2	HP:0001956	Truncal obesity	10/38	OMIM:300957
57187	THOC2	HP:0004322	Short stature	20/38	OMIM:300957
57187	THOC2	HP:0004322	Short stature	HP:0040282	ORPHA:457240
57187	THOC2	HP:0006986	Upper limb spasticity	HP:0040283	ORPHA:457240
57187	THOC2	HP:0000739	Anxiety	HP:0040283	ORPHA:457240
57187	THOC2	HP:0000739	Anxiety	2/38	OMIM:300957
57187	THOC2	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:457240
57187	THOC2	HP:0000750	Delayed speech and language development	31/38	OMIM:300957
57187	THOC2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:457240
57187	THOC2	HP:0000742	Self-mutilation	HP:0040283	ORPHA:457240
57187	THOC2	HP:0000716	Depression	HP:0040283	ORPHA:457240
57187	THOC2	HP:0000716	Depression	2/38	OMIM:300957
57187	THOC2	HP:0000729	Autistic behavior	HP:0040283	ORPHA:457240
57187	THOC2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:457240
57187	THOC2	HP:0000708	Atypical behavior	15/38	OMIM:300957
57187	THOC2	HP:0004437	Cranial hyperostosis	HP:0040283	ORPHA:457240
57187	THOC2	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:457240
57187	THOC2	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:457240
57187	THOC2	HP:0031418	Increased body mass index	HP:0040284	OMIM:300957
57187	THOC2	HP:0000252	Microcephaly	13/38	OMIM:300957
57187	THOC2	HP:0000252	Microcephaly	HP:0040283	ORPHA:457240
57187	THOC2	HP:0000218	High palate	HP:0040282	ORPHA:457240
57187	THOC2	HP:0025502	Overweight	HP:0040282	ORPHA:457240
57187	THOC2	HP:0030043	Hip subluxation	2/38	OMIM:300957
57187	THOC2	HP:0001518	Small for gestational age	10/34	OMIM:300957
57187	THOC2	HP:0000337	Broad forehead	HP:0040283	ORPHA:457240
57187	THOC2	HP:0000348	High forehead	HP:0040283	ORPHA:457240
57187	THOC2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:457240
57187	THOC2	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:457240
57187	THOC2	HP:0001622	Premature birth	6/34	OMIM:300957
57187	THOC2	HP:0000407	Sensorineural hearing impairment	3/32	OMIM:300957
57187	THOC2	HP:0000400	Macrotia	HP:0040283	ORPHA:457240
57187	THOC2	HP:0000486	Strabismus	4/38	OMIM:300957
57187	THOC2	HP:0000486	Strabismus	HP:0040283	ORPHA:457240
57187	THOC2	HP:0030260	Microphallus	4/11	OMIM:300957
57187	THOC2	HP:0000505	Visual impairment	2/10	OMIM:300957
57187	THOC2	HP:0000577	Exotropia	2/10	OMIM:300957
57190	SELENON	HP:0003789	Minicore myopathy	-	OMIM:602771
57190	SELENON	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	-	OMIM:602771
57190	SELENON	HP:0002421	Poor head control	HP:0040282	ORPHA:324604
57190	SELENON	HP:0002421	Poor head control	HP:0040282	ORPHA:97244
57190	SELENON	HP:0002421	Poor head control	10/17	OMIM:602771
57190	SELENON	HP:0002421	Poor head control	HP:0040282	ORPHA:2020
57190	SELENON	HP:0003749	Pelvic girdle muscle weakness	HP:0040283	ORPHA:2020
57190	SELENON	HP:0003722	Neck flexor weakness	17/17	OMIM:602771
57190	SELENON	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:324604
57190	SELENON	HP:0003700	Generalized amyotrophy	-	OMIM:602771
57190	SELENON	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:324604
57190	SELENON	HP:0001290	Generalized hypotonia	HP:0040281	ORPHA:97244
57190	SELENON	HP:0001290	Generalized hypotonia	-	OMIM:602771
57190	SELENON	HP:0001270	Motor delay	5/17	OMIM:602771
57190	SELENON	HP:0001270	Motor delay	HP:0040282	ORPHA:2020
57190	SELENON	HP:0001284	Areflexia	HP:0040282	ORPHA:2020
57190	SELENON	HP:0001252	Hypotonia	-	OMIM:602771
57190	SELENON	HP:0001252	Hypotonia	HP:0040281	ORPHA:2020
57190	SELENON	HP:0001249	Intellectual disability	0/17	OMIM:602771
57190	SELENON	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:97244
57190	SELENON	HP:0001263	Global developmental delay	HP:0040283	ORPHA:97244
57190	SELENON	HP:0002515	Waddling gait	HP:0040283	ORPHA:97244
57190	SELENON	HP:0002505	Loss of ambulation	1/17	OMIM:602771
57190	SELENON	HP:0003803	Type 1 muscle fiber predominance	8/8	OMIM:602771
57190	SELENON	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:2020
57190	SELENON	HP:0001371	Flexion contracture	HP:0040282	ORPHA:2020
57190	SELENON	HP:0001371	Flexion contracture	-	OMIM:602771
57190	SELENON	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:324604
57190	SELENON	HP:0000007	Autosomal recessive inheritance	-	OMIM:602771
57190	SELENON	HP:0002650	Scoliosis	HP:0040282	ORPHA:324604
57190	SELENON	HP:0002650	Scoliosis	HP:0040281	ORPHA:97244
57190	SELENON	HP:0002650	Scoliosis	16/17	OMIM:602771
57190	SELENON	HP:0002650	Scoliosis	HP:0040283	ORPHA:2020
57190	SELENON	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:2020
57190	SELENON	HP:0002792	Reduced vital capacity	14/14	OMIM:602771
57190	SELENON	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:2020
57190	SELENON	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:2020
57190	SELENON	HP:0005991	Limited neck flexion	-	OMIM:602771
57190	SELENON	HP:0005991	Limited neck flexion	HP:0040282	ORPHA:324604
57190	SELENON	HP:0003327	Axial muscle weakness	-	OMIM:602771
57190	SELENON	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:324604
57190	SELENON	HP:0002015	Dysphagia	HP:0040282	ORPHA:2020
57190	SELENON	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:97244
57190	SELENON	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:2020
57190	SELENON	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:324604
57190	SELENON	HP:0003306	Spinal rigidity	HP:0040281	ORPHA:97244
57190	SELENON	HP:0003306	Spinal rigidity	7/17	OMIM:602771
57190	SELENON	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:2020
57190	SELENON	HP:0003324	Generalized muscle weakness	-	OMIM:602771
57190	SELENON	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:2020
57190	SELENON	HP:0011807	Type 1 muscle fiber atrophy	HP:0040281	ORPHA:2020
57190	SELENON	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:2020
57190	SELENON	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:97244
57190	SELENON	HP:0002090	Pneumonia	HP:0040282	ORPHA:97244
57190	SELENON	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:324604
57190	SELENON	HP:0002091	Restrictive ventilatory defect	-	OMIM:602771
57190	SELENON	HP:0003391	Gowers sign	HP:0040283	ORPHA:97244
57190	SELENON	HP:0002058	Myopathic facies	HP:0040282	ORPHA:2020
57190	SELENON	HP:0003388	Easy fatigability	HP:0040282	ORPHA:2020
57190	SELENON	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:324604
57190	SELENON	HP:0011842	Abnormal skeletal morphology	HP:0040281	ORPHA:97244
57190	SELENON	HP:0011842	Abnormal skeletal morphology	HP:0040282	ORPHA:2020
57190	SELENON	HP:0003593	Infantile onset	11/17	OMIM:602771
57190	SELENON	HP:0003577	Congenital onset	3/17	OMIM:602771
57190	SELENON	HP:0003547	Shoulder girdle muscle weakness	HP:0040283	ORPHA:2020
57190	SELENON	HP:0004878	Intercostal muscle weakness	HP:0040283	ORPHA:2020
57190	SELENON	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:324604
57190	SELENON	HP:0003560	Muscular dystrophy	-	OMIM:602771
57190	SELENON	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:324604
57190	SELENON	HP:0003557	Increased variability in muscle fiber diameter	8/8	OMIM:602771
57190	SELENON	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:2020
57190	SELENON	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2020
57190	SELENON	HP:0010628	Facial palsy	15/17	OMIM:602771
57190	SELENON	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:2020
57190	SELENON	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:2020
57190	SELENON	HP:0003687	Centrally nucleated skeletal muscle fibers	8/8	OMIM:602771
57190	SELENON	HP:0002315	Headache	HP:0040283	ORPHA:2020
57190	SELENON	HP:0003623	Neonatal onset	3/17	OMIM:602771
57190	SELENON	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2020
57190	SELENON	HP:0009058	Increased muscle lipid content	HP:0040282	ORPHA:324604
57190	SELENON	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:2020
57190	SELENON	HP:0000678	Dental crowding	HP:0040282	ORPHA:2020
57190	SELENON	HP:0009004	Hypoplasia of the musculature	HP:0040283	ORPHA:2020
57190	SELENON	HP:0004325	Decreased body weight	16/17	OMIM:602771
57190	SELENON	HP:0004322	Short stature	HP:0040282	ORPHA:324604
57190	SELENON	HP:0004322	Short stature	16/17	OMIM:602771
57190	SELENON	HP:0003089	Hamstring contractures	HP:0040282	ORPHA:97244
57190	SELENON	HP:0004396	Poor appetite	HP:0040282	ORPHA:2020
57190	SELENON	HP:0004347	Weakness of muscles of respiration	HP:0040282	ORPHA:2020
57190	SELENON	HP:0031936	Delayed ability to walk	4/17	OMIM:602771
57190	SELENON	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:2020
57190	SELENON	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:2020
57190	SELENON	HP:0012785	Flexion contracture of finger	HP:0040283	ORPHA:2020
57190	SELENON	HP:0003198	Myopathy	HP:0040281	ORPHA:97244
57190	SELENON	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:97244
57190	SELENON	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:97244
57190	SELENON	HP:0003273	Hip contracture	HP:0040282	ORPHA:97244
57190	SELENON	HP:0003273	Hip contracture	HP:0040283	ORPHA:2020
57190	SELENON	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:324604
57190	SELENON	HP:0100297	Increased endomysial connective tissue	8/8	OMIM:602771
57190	SELENON	HP:0000276	Long face	HP:0040283	ORPHA:2020
57190	SELENON	HP:0006466	Ankle flexion contracture	HP:0040283	ORPHA:2020
57190	SELENON	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:324604
57190	SELENON	HP:0030091	Absent muscle fiber merosin	-	ORPHA:324604
57190	SELENON	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:2020
57190	SELENON	HP:0001547	Abnormal rib cage morphology	-	OMIM:602771
57190	SELENON	HP:0002878	Respiratory failure	HP:0040283	ORPHA:2020
57190	SELENON	HP:0000218	High palate	HP:0040282	ORPHA:324604
57190	SELENON	HP:0000218	High palate	-	OMIM:602771
57190	SELENON	HP:0000218	High palate	HP:0040282	ORPHA:2020
57190	SELENON	HP:0002877	Nocturnal hypoventilation	10/17	OMIM:602771
57190	SELENON	HP:0002877	Nocturnal hypoventilation	HP:0040282	ORPHA:324604
57190	SELENON	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:2020
57190	SELENON	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:2020
57190	SELENON	HP:0001508	Failure to thrive	HP:0040282	ORPHA:324604
57190	SELENON	HP:0001508	Failure to thrive	16/17	OMIM:602771
57190	SELENON	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2020
57190	SELENON	HP:0012378	Fatigue	HP:0040282	ORPHA:2020
57190	SELENON	HP:0005216	Impaired mastication	HP:0040283	ORPHA:2020
57190	SELENON	HP:0001609	Hoarse voice	HP:0040283	ORPHA:2020
57190	SELENON	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:2020
57190	SELENON	HP:0001611	Hypernasal speech	-	OMIM:602771
57190	SELENON	HP:0001667	Right ventricular hypertrophy	HP:0040283	ORPHA:324604
57190	SELENON	HP:0000347	Micrognathia	HP:0040283	ORPHA:2020
57190	SELENON	HP:0001648	Cor pulmonale	HP:0040283	ORPHA:2020
57190	SELENON	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:97244
57190	SELENON	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:2020
57190	SELENON	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2020
57190	SELENON	HP:0001620	Abnormally high-pitched voice	HP:0040282	ORPHA:324604
57190	SELENON	HP:0001620	Abnormally high-pitched voice	-	OMIM:602771
57190	SELENON	HP:0000308	Microretrognathia	HP:0040283	ORPHA:324604
57190	SELENON	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:324604
57190	SELENON	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:324604
57190	SELENON	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:324604
57190	SELENON	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:324604
57190	SELENON	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:2020
57190	SELENON	HP:0001708	Right ventricular failure	HP:0040283	ORPHA:324604
57190	SELENON	HP:0031546	Cardiac conduction abnormality	HP:0040282	ORPHA:97244
57190	SELENON	HP:0000467	Neck muscle weakness	HP:0040281	ORPHA:97244
57190	SELENON	HP:0001763	Pes planus	HP:0040283	ORPHA:324604
57190	SELENON	HP:0012416	Hypercapnia	HP:0040283	ORPHA:2020
57190	SELENON	HP:0012418	Hypoxemia	HP:0040283	ORPHA:2020
57190	SELENON	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:2020
57190	SELENON	HP:0001761	Pes cavus	HP:0040283	ORPHA:2020
57190	SELENON	HP:0001824	Weight loss	HP:0040282	ORPHA:2020
57192	MCOLN1	HP:0007281	Developmental stagnation	HP:0040281	ORPHA:578
57192	MCOLN1	HP:0007281	Developmental stagnation	-	OMIM:252650
57192	MCOLN1	HP:0500167	Hypergastrinemia	-	OMIM:252650
57192	MCOLN1	HP:0007266	Cerebral dysmyelination	-	OMIM:252650
57192	MCOLN1	HP:0001290	Generalized hypotonia	-	OMIM:252650
57192	MCOLN1	HP:0001272	Cerebellar atrophy	-	OMIM:252650
57192	MCOLN1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:578
57192	MCOLN1	HP:0001252	Hypotonia	HP:0040282	ORPHA:578
57192	MCOLN1	HP:0001252	Hypotonia	-	OMIM:252650
57192	MCOLN1	HP:0001251	Ataxia	HP:0040282	ORPHA:578
57192	MCOLN1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:578
57192	MCOLN1	HP:0001249	Intellectual disability	-	OMIM:252650
57192	MCOLN1	HP:0001263	Global developmental delay	-	OMIM:252650
57192	MCOLN1	HP:0002510	Spastic tetraplegia	-	OMIM:252650
57192	MCOLN1	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:578
57192	MCOLN1	HP:0001347	Hyperreflexia	-	OMIM:252650
57192	MCOLN1	HP:0001332	Dystonia	-	OMIM:252650
57192	MCOLN1	HP:0001344	Absent speech	HP:0040281	ORPHA:578
57192	MCOLN1	HP:0001344	Absent speech	-	OMIM:252650
57192	MCOLN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:252650
57192	MCOLN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620763
57192	MCOLN1	HP:0032448	Achlorhydria	-	OMIM:252650
57192	MCOLN1	HP:0001438	Abnormal abdomen morphology	-	OMIM:252650
57192	MCOLN1	HP:0003487	Babinski sign	-	OMIM:252650
57192	MCOLN1	HP:0003593	Infantile onset	-	OMIM:252650
57192	MCOLN1	HP:0002344	Progressive neurologic deterioration	-	OMIM:252650
57192	MCOLN1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:578
57192	MCOLN1	HP:0000639	Nystagmus	HP:0040282	ORPHA:578
57192	MCOLN1	HP:0000648	Optic atrophy	-	OMIM:252650
57192	MCOLN1	HP:0000613	Photophobia	HP:0040281	ORPHA:578
57192	MCOLN1	HP:0000613	Photophobia	-	OMIM:252650
57192	MCOLN1	HP:0000691	Microdontia	HP:0040283	ORPHA:578
57192	MCOLN1	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	-	OMIM:252650
57192	MCOLN1	HP:0006989	Dysplastic corpus callosum	-	OMIM:252650
57192	MCOLN1	HP:0004345	Ganglioside accumulation	HP:0040281	ORPHA:578
57192	MCOLN1	HP:0004345	Ganglioside accumulation	-	OMIM:252650
57192	MCOLN1	HP:0000708	Atypical behavior	HP:0040281	ORPHA:578
57192	MCOLN1	HP:0011463	Childhood onset	-	OMIM:620763
57192	MCOLN1	HP:0004422	Biparietal narrowing	HP:0040283	ORPHA:578
57192	MCOLN1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:578
57192	MCOLN1	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:578
57192	MCOLN1	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:578
57192	MCOLN1	HP:0007709	Band-shaped corneal dystrophy	-	OMIM:620763
57192	MCOLN1	HP:0000280	Coarse facial features	HP:0040283	ORPHA:578
57192	MCOLN1	HP:0007759	Opacification of the corneal stroma	-	OMIM:252650
57192	MCOLN1	HP:0005105	Abnormal nasal morphology	HP:0040283	ORPHA:578
57192	MCOLN1	HP:0002816	Genu recurvatum	HP:0040283	ORPHA:578
57192	MCOLN1	HP:0000252	Microcephaly	HP:0040283	ORPHA:578
57192	MCOLN1	HP:0000252	Microcephaly	-	OMIM:252650
57192	MCOLN1	HP:0000232	Everted lower lip vermilion	HP:0040283	ORPHA:578
57192	MCOLN1	HP:0011020	Abnormality of mucopolysaccharide metabolism	HP:0040281	ORPHA:578
57192	MCOLN1	HP:0011020	Abnormality of mucopolysaccharide metabolism	-	OMIM:252650
57192	MCOLN1	HP:0007957	Corneal opacity	HP:0040281	ORPHA:578
57192	MCOLN1	HP:0007957	Corneal opacity	-	OMIM:252650
57192	MCOLN1	HP:0000486	Strabismus	HP:0040281	ORPHA:578
57192	MCOLN1	HP:0000486	Strabismus	-	OMIM:252650
57192	MCOLN1	HP:0000488	Retinopathy	HP:0040281	ORPHA:578
57192	MCOLN1	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:578
57192	MCOLN1	HP:0000505	Visual impairment	-	OMIM:252650
57192	MCOLN1	HP:0000546	Retinal degeneration	-	OMIM:252650
57194	ATP10A	HP:0002465	Poor speech	HP:0040283	ORPHA:411515
57194	ATP10A	HP:0001250	Seizure	HP:0040282	ORPHA:411515
57194	ATP10A	HP:0001251	Ataxia	HP:0040283	ORPHA:411515
57194	ATP10A	HP:0002591	Polyphagia	HP:0040282	ORPHA:411515
57194	ATP10A	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:411515
57194	ATP10A	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:411515
57194	ATP10A	HP:0001344	Absent speech	HP:0040283	ORPHA:411515
57194	ATP10A	HP:0000154	Wide mouth	HP:0040283	ORPHA:411515
57194	ATP10A	HP:0008947	Floppy infant	HP:0040282	ORPHA:411515
57194	ATP10A	HP:0002136	Broad-based gait	HP:0040283	ORPHA:411515
57194	ATP10A	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:411515
57194	ATP10A	HP:0002353	EEG abnormality	HP:0040282	ORPHA:411515
57194	ATP10A	HP:0002307	Drooling	HP:0040283	ORPHA:411515
57194	ATP10A	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:411515
57194	ATP10A	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:411515
57194	ATP10A	HP:0006979	Sleep-wake cycle disturbance	HP:0040283	ORPHA:411515
57194	ATP10A	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:411515
57194	ATP10A	HP:0000752	Hyperactivity	HP:0040283	ORPHA:411515
57194	ATP10A	HP:0000736	Short attention span	HP:0040283	ORPHA:411515
57194	ATP10A	HP:0000748	Inappropriate laughter	HP:0040282	ORPHA:411515
57194	ATP10A	HP:0000710	Hyperorality	HP:0040283	ORPHA:411515
57194	ATP10A	HP:0000708	Atypical behavior	HP:0040283	ORPHA:411515
57194	ATP10A	HP:0004485	Cessation of head growth	HP:0040283	ORPHA:411515
57194	ATP10A	HP:0040082	Happy demeanor	HP:0040282	ORPHA:411515
57194	ATP10A	HP:0007730	Iris hypopigmentation	HP:0040282	ORPHA:411515
57194	ATP10A	HP:0001513	Obesity	HP:0040282	ORPHA:411515
57194	ATP10A	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:411515
57211	ADGRG6	HP:0001181	Adducted thumb	1/4	OMIM:616503
57211	ADGRG6	HP:0010963	Absence of stomach bubble on fetal sonography	1/4	OMIM:616503
57211	ADGRG6	HP:0001196	Short umbilical cord	1/4	OMIM:616503
57211	ADGRG6	HP:0001239	Wrist flexion contracture	1/4	OMIM:616503
57211	ADGRG6	HP:0031013	Ankylosis	1/4	OMIM:616503
57211	ADGRG6	HP:0001371	Flexion contracture	1/4	OMIM:616503
57211	ADGRG6	HP:0000007	Autosomal recessive inheritance	-	OMIM:616503
57211	ADGRG6	HP:0002089	Pulmonary hypoplasia	1/4	OMIM:616503
57211	ADGRG6	HP:0009487	Ulnar deviation of the hand	1/4	OMIM:616503
57211	ADGRG6	HP:0009473	Joint contracture of the hand	1/4	OMIM:616503
57211	ADGRG6	HP:0003557	Increased variability in muscle fiber diameter	1/4	OMIM:616503
57211	ADGRG6	HP:0001060	Axillary pterygium	1/4	OMIM:616503
57211	ADGRG6	HP:0003687	Centrally nucleated skeletal muscle fibers	1/4	OMIM:616503
57211	ADGRG6	HP:0100602	Preeclampsia	1/4	OMIM:616503
57211	ADGRG6	HP:0009760	Antecubital pterygium	1/4	OMIM:616503
57211	ADGRG6	HP:0005659	Thoracic kyphoscoliosis	1/4	OMIM:616503
57211	ADGRG6	HP:0034197	Third trimester onset	1/4	OMIM:616503
57211	ADGRG6	HP:0034198	Second trimester onset	3/4	OMIM:616503
57211	ADGRG6	HP:0000775	Abnormality of the diaphragm	HP:0040283	OMIM:616503
57211	ADGRG6	HP:0003198	Myopathy	-	OMIM:616503
57211	ADGRG6	HP:0034393	Elbow extension contracture	1/4	OMIM:616503
57211	ADGRG6	HP:0100295	Muscle fiber atrophy	1/4	OMIM:616503
57211	ADGRG6	HP:0002803	Congenital contracture	-	OMIM:616503
57211	ADGRG6	HP:0002804	Arthrogryposis multiplex congenita	4/4	OMIM:616503
57211	ADGRG6	HP:0000219	Thin upper lip vermilion	1/4	OMIM:616503
57211	ADGRG6	HP:0001561	Polyhydramnios	2/4	OMIM:616503
57211	ADGRG6	HP:0001558	Decreased fetal movement	2/4	OMIM:616503
57211	ADGRG6	HP:0001511	Intrauterine growth retardation	2/4	OMIM:616503
57211	ADGRG6	HP:0006543	Cardiorespiratory arrest	1/4	OMIM:616503
57211	ADGRG6	HP:0000369	Low-set ears	2/4	OMIM:616503
57211	ADGRG6	HP:0000347	Micrognathia	3/4	OMIM:616503
57211	ADGRG6	HP:0000316	Hypertelorism	1/4	OMIM:616503
57211	ADGRG6	HP:0000325	Triangular face	1/4	OMIM:616503
57211	ADGRG6	HP:0005280	Depressed nasal bridge	1/4	OMIM:616503
57211	ADGRG6	HP:0000463	Anteverted nares	1/4	OMIM:616503
57211	ADGRG6	HP:0001762	Talipes equinovarus	3/4	OMIM:616503
57216	VANGL2	HP:0002475	Myelomeningocele	-	OMIM:182940
57216	VANGL2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:563612
57216	VANGL2	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:563612
57216	VANGL2	HP:0012032	Lipoma	-	OMIM:182940
57216	VANGL2	HP:0002683	Abnormal calvaria morphology	HP:0040282	ORPHA:563612
57216	VANGL2	HP:0000020	Urinary incontinence	-	OMIM:182940
57216	VANGL2	HP:0001360	Holoprosencephaly	HP:0040282	ORPHA:563612
57216	VANGL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:182940
57216	VANGL2	HP:0410030	Cleft lip	HP:0040283	ORPHA:563609
57216	VANGL2	HP:0011756	Posterior pituitary agenesis	HP:0040283	ORPHA:563612
57216	VANGL2	HP:0010516	Thymus hyperplasia	HP:0040283	ORPHA:563609
57216	VANGL2	HP:0011821	Abnormal facial skeleton morphology	HP:0040283	ORPHA:563612
57216	VANGL2	HP:0010627	Anterior pituitary hypoplasia	HP:0040283	ORPHA:563612
57216	VANGL2	HP:0001012	Multiple lipomas	-	OMIM:182940
57216	VANGL2	HP:0002323	Anencephaly	-	OMIM:182940
57216	VANGL2	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:563612
57216	VANGL2	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:563609
57216	VANGL2	HP:0008482	Asymmetry of spinal facet joints	-	OMIM:182940
57216	VANGL2	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:563609
57216	VANGL2	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:563612
57216	VANGL2	HP:0000835	Adrenal hypoplasia	HP:0040282	ORPHA:563609
57216	VANGL2	HP:0003298	Spina bifida occulta	-	OMIM:182940
57216	VANGL2	HP:0010305	Absence of the sacrum	-	OMIM:182940
57216	VANGL2	HP:0000960	Sacral dimple	-	OMIM:182940
57216	VANGL2	HP:0000238	Hydrocephalus	-	OMIM:182940
57216	VANGL2	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:563612
57216	VANGL2	HP:0001539	Omphalocele	HP:0040283	ORPHA:563609
57216	VANGL2	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:563609
57216	VANGL2	HP:0000369	Low-set ears	HP:0040283	ORPHA:563612
57216	VANGL2	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:563612
57216	VANGL2	HP:0030244	Maternal fever in pregnancy	HP:0040283	ORPHA:563612
57216	VANGL2	HP:0030244	Maternal fever in pregnancy	HP:0040283	ORPHA:563609
57216	VANGL2	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:563612
57216	VANGL2	HP:0005466	Hypoplasia of the frontal bone	HP:0040282	ORPHA:563612
57216	VANGL2	HP:0000520	Proptosis	HP:0040282	ORPHA:563612
57217	TTC7A	HP:0003765	Psoriasiform dermatitis	HP:0040283	OMIM:243150
57217	TTC7A	HP:0003765	Psoriasiform dermatitis	HP:0040284	ORPHA:436252
57217	TTC7A	HP:0010959	Congenital pulmonary airway malformation	HP:0040284	ORPHA:436252
57217	TTC7A	HP:0010959	Congenital pulmonary airway malformation	1/16	OMIM:243150
57217	TTC7A	HP:0032220	Interface hepatitis	1/1	OMIM:243150
57217	TTC7A	HP:0002589	Gastrointestinal atresia	HP:0040281	ORPHA:436252
57217	TTC7A	HP:0002573	Hematochezia	3/5	OMIM:243150
57217	TTC7A	HP:0002566	Intestinal malrotation	3/16	OMIM:243150
57217	TTC7A	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:436252
57217	TTC7A	HP:0100889	Abnormal ductus choledochus morphology	HP:0040283	ORPHA:436252
57217	TTC7A	HP:0003819	Death in childhood	1/5	OMIM:243150
57217	TTC7A	HP:0000007	Autosomal recessive inheritance	-	OMIM:243150
57217	TTC7A	HP:0012190	T-cell lymphoma	8/8	OMIM:243150
57217	TTC7A	HP:0012115	Hepatitis	HP:0040284	ORPHA:436252
57217	TTC7A	HP:0006297	Enamel hypoplasia	1/1	OMIM:243150
57217	TTC7A	HP:0002722	Recurrent abscess formation	HP:0040283	ORPHA:436252
57217	TTC7A	HP:0002721	Immunodeficiency	HP:0040282	ORPHA:436252
57217	TTC7A	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	4/8	OMIM:243150
57217	TTC7A	HP:0010448	Colonic atresia	13/15	OMIM:243150
57217	TTC7A	HP:0100592	Peritoneal abscess	HP:0040283	ORPHA:436252
57217	TTC7A	HP:0003577	Congenital onset	5/5	OMIM:243150
57217	TTC7A	HP:0002247	Duodenal atresia	9/16	OMIM:243150
57217	TTC7A	HP:0002223	Absent eyebrow	HP:0040282	ORPHA:436252
57217	TTC7A	HP:0002205	Recurrent respiratory infections	1/1	OMIM:243150
57217	TTC7A	HP:0008404	Nail dystrophy	HP:0040284	ORPHA:436252
57217	TTC7A	HP:0002293	Alopecia of scalp	HP:0040283	ORPHA:436252
57217	TTC7A	HP:0025023	Rectal atresia	9/13	OMIM:243150
57217	TTC7A	HP:0100651	Type I diabetes mellitus	HP:0040284	ORPHA:436252
57217	TTC7A	HP:0025085	Bloody diarrhea	1/1	OMIM:243150
57217	TTC7A	HP:0025085	Bloody diarrhea	HP:0040282	ORPHA:436252
57217	TTC7A	HP:0001072	Thickened skin	HP:0040283	ORPHA:436252
57217	TTC7A	HP:0010766	Ectopic calcification	HP:0040281	ORPHA:436252
57217	TTC7A	HP:0001974	Increased total leukocyte count	1/1	OMIM:243150
57217	TTC7A	HP:0004313	Decreased circulating immunoglobulin concentration	7/14	OMIM:243150
57217	TTC7A	HP:0004387	Enterocolitis	5/5	OMIM:243150
57217	TTC7A	HP:0000778	Hypoplasia of the thymus	HP:0040283	OMIM:243150
57217	TTC7A	HP:0000778	Hypoplasia of the thymus	HP:0040283	ORPHA:436252
57217	TTC7A	HP:0004432	Agammaglobulinemia	2/8	OMIM:243150
57217	TTC7A	HP:0004430	Severe combined immunodeficiency	HP:0040283	OMIM:243150
57217	TTC7A	HP:0004430	Severe combined immunodeficiency	HP:0040281	ORPHA:436252
57217	TTC7A	HP:0000872	Hashimoto thyroiditis	HP:0040284	ORPHA:436252
57217	TTC7A	HP:0003270	Abdominal distention	HP:0040282	ORPHA:436252
57217	TTC7A	HP:0008070	Sparse hair	HP:0040282	ORPHA:436252
57217	TTC7A	HP:0001561	Polyhydramnios	1/3	OMIM:243150
57217	TTC7A	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:436252
57217	TTC7A	HP:0001522	Death in infancy	3/5	OMIM:243150
57217	TTC7A	HP:0001539	Omphalocele	2/19	OMIM:243150
57217	TTC7A	HP:0001539	Omphalocele	HP:0040284	ORPHA:436252
57217	TTC7A	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:436252
57217	TTC7A	HP:0001511	Intrauterine growth retardation	5/16	OMIM:243150
57217	TTC7A	HP:0005235	Jejunal atresia	15/16	OMIM:243150
57217	TTC7A	HP:0005229	Jejunoileal ulceration	HP:0040282	ORPHA:436252
57217	TTC7A	HP:0005214	Intestinal obstruction	3/3	OMIM:243150
57217	TTC7A	HP:0005224	Rectal abscess	HP:0040283	ORPHA:436252
57217	TTC7A	HP:0000316	Hypertelorism	1/1	OMIM:243150
57217	TTC7A	HP:0002960	Autoimmunity	HP:0040283	OMIM:243150
57217	TTC7A	HP:0002960	Autoimmunity	HP:0040284	ORPHA:436252
57217	TTC7A	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:436252
57217	TTC7A	HP:0001629	Ventricular septal defect	1/16	OMIM:243150
57217	TTC7A	HP:0011102	Ileal atresia	1/1	OMIM:243150
57217	TTC7A	HP:0011100	Intestinal atresia	20/27	OMIM:243150
57217	TTC7A	HP:0011100	Intestinal atresia	HP:0040281	ORPHA:436252
57217	TTC7A	HP:0001894	Thrombocytosis	1/1	OMIM:243150
57217	TTC7A	HP:0001890	Autoimmune hemolytic anemia	HP:0040283	OMIM:243150
57217	TTC7A	HP:0001890	Autoimmune hemolytic anemia	HP:0040284	ORPHA:436252
57217	TTC7A	HP:0011220	Prominent forehead	1/1	OMIM:243150
57217	TTC7A	HP:0001888	Decreased total lymphocyte count	3/5	OMIM:243150
57222	ERGIC1	HP:0001284	Areflexia	HP:0040282	ORPHA:1143
57222	ERGIC1	HP:0001239	Wrist flexion contracture	HP:0040282	ORPHA:1143
57222	ERGIC1	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:1143
57222	ERGIC1	HP:0008807	Acetabular dysplasia	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0001371	Flexion contracture	HP:0040280	ORPHA:1143
57222	ERGIC1	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:208100
57222	ERGIC1	HP:0002650	Scoliosis	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0002098	Respiratory distress	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0002058	Myopathic facies	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0008110	Equinovarus deformity	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:1143
57222	ERGIC1	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:1143
57222	ERGIC1	HP:0003444	EMG: chronic denervation signs	HP:0040281	ORPHA:1143
57222	ERGIC1	HP:0003577	Congenital onset	-	OMIM:208100
57222	ERGIC1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0002380	Fasciculations	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0010781	Skin dimple	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0030680	Abnormal cardiovascular system morphology	-	OMIM:208100
57222	ERGIC1	HP:0030799	Scaphocephaly	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0003198	Myopathy	-	OMIM:208100
57222	ERGIC1	HP:0003202	Skeletal muscle atrophy	-	OMIM:208100
57222	ERGIC1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:1143
57222	ERGIC1	HP:0003273	Hip contracture	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0006466	Ankle flexion contracture	HP:0040282	ORPHA:1143
57222	ERGIC1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0002803	Congenital contracture	-	OMIM:208100
57222	ERGIC1	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:208100
57222	ERGIC1	HP:0006380	Knee flexion contracture	HP:0040282	ORPHA:1143
57222	ERGIC1	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0000347	Micrognathia	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:1143
57222	ERGIC1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0001623	Breech presentation	HP:0040283	ORPHA:1143
57222	ERGIC1	HP:0001762	Talipes equinovarus	-	OMIM:208100
57222	ERGIC1	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:1143
57231	SNX14	HP:0001156	Brachydactyly	HP:0040283	ORPHA:397709
57231	SNX14	HP:0001156	Brachydactyly	6/7	OMIM:616354
57231	SNX14	HP:0010862	Delayed fine motor development	HP:0040281	ORPHA:397709
57231	SNX14	HP:0010862	Delayed fine motor development	22/22	OMIM:616354
57231	SNX14	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:397709
57231	SNX14	HP:0001272	Cerebellar atrophy	27/29	OMIM:616354
57231	SNX14	HP:0001250	Seizure	HP:0040283	ORPHA:397709
57231	SNX14	HP:0001250	Seizure	8/22	OMIM:616354
57231	SNX14	HP:0001252	Hypotonia	HP:0040282	ORPHA:397709
57231	SNX14	HP:0001252	Hypotonia	28/29	OMIM:616354
57231	SNX14	HP:0001251	Ataxia	5/6	OMIM:616354
57231	SNX14	HP:0001251	Ataxia	HP:0040282	ORPHA:397709
57231	SNX14	HP:0001249	Intellectual disability	6/6	OMIM:616354
57231	SNX14	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:397709
57231	SNX14	HP:0001265	Hyporeflexia	5/6	OMIM:616354
57231	SNX14	HP:0001263	Global developmental delay	-	OMIM:616354
57231	SNX14	HP:0001257	Spasticity	HP:0040283	ORPHA:397709
57231	SNX14	HP:0001257	Spasticity	-	OMIM:616354
57231	SNX14	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:397709
57231	SNX14	HP:0002540	Inability to walk	-	OMIM:616354
57231	SNX14	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:397709
57231	SNX14	HP:0025336	Delayed ability to sit	6/7	OMIM:616354
57231	SNX14	HP:0002684	Thickened calvaria	HP:0040283	ORPHA:397709
57231	SNX14	HP:0001344	Absent speech	HP:0040282	ORPHA:397709
57231	SNX14	HP:0001344	Absent speech	5/7	OMIM:616354
57231	SNX14	HP:0000007	Autosomal recessive inheritance	-	OMIM:616354
57231	SNX14	HP:0002650	Scoliosis	2/7	OMIM:616354
57231	SNX14	HP:0001321	Cerebellar hypoplasia	-	OMIM:616354
57231	SNX14	HP:0000158	Macroglossia	HP:0040282	ORPHA:397709
57231	SNX14	HP:0000158	Macroglossia	12/22	OMIM:616354
57231	SNX14	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:397709
57231	SNX14	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:397709
57231	SNX14	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:397709
57231	SNX14	HP:0002751	Kyphoscoliosis	10/22	OMIM:616354
57231	SNX14	HP:0002002	Deep philtrum	HP:0040283	ORPHA:397709
57231	SNX14	HP:0002007	Frontal bossing	HP:0040282	ORPHA:397709
57231	SNX14	HP:0100540	Palpebral edema	HP:0040282	ORPHA:397709
57231	SNX14	HP:0010471	Oligosacchariduria	5/22	OMIM:616354
57231	SNX14	HP:0010471	Oligosacchariduria	HP:0040283	ORPHA:397709
57231	SNX14	HP:0003487	Babinski sign	HP:0040283	ORPHA:397709
57231	SNX14	HP:0003487	Babinski sign	-	OMIM:616354
57231	SNX14	HP:0002120	Cerebral cortical atrophy	-	OMIM:616354
57231	SNX14	HP:0002136	Broad-based gait	HP:0040282	ORPHA:397709
57231	SNX14	HP:0002186	Apraxia	-	OMIM:616354
57231	SNX14	HP:0002186	Apraxia	HP:0040283	ORPHA:397709
57231	SNX14	HP:0002194	Delayed gross motor development	HP:0040281	ORPHA:397709
57231	SNX14	HP:0002194	Delayed gross motor development	22/22	OMIM:616354
57231	SNX14	HP:0011842	Abnormal skeletal morphology	HP:0040282	ORPHA:397709
57231	SNX14	HP:0003593	Infantile onset	2/22	OMIM:616354
57231	SNX14	HP:0002240	Hepatomegaly	5/22	OMIM:616354
57231	SNX14	HP:0002219	Facial hypertrichosis	HP:0040283	ORPHA:397709
57231	SNX14	HP:0008443	Neuropathic spinal arthropathy	HP:0040283	ORPHA:397709
57231	SNX14	HP:0003623	Neonatal onset	2/22	OMIM:616354
57231	SNX14	HP:0000639	Nystagmus	11/22	OMIM:616354
57231	SNX14	HP:0000639	Nystagmus	HP:0040282	ORPHA:397709
57231	SNX14	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:397709
57231	SNX14	HP:0000684	Delayed eruption of teeth	-	OMIM:616354
57231	SNX14	HP:0000678	Dental crowding	HP:0040283	ORPHA:397709
57231	SNX14	HP:0000678	Dental crowding	-	OMIM:616354
57231	SNX14	HP:0006951	Retrocerebellar cyst	HP:0040283	ORPHA:397709
57231	SNX14	HP:0012745	Short palpebral fissure	HP:0040283	ORPHA:397709
57231	SNX14	HP:0012745	Short palpebral fissure	6/7	OMIM:616354
57231	SNX14	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:397709
57231	SNX14	HP:0000750	Delayed speech and language development	22/22	OMIM:616354
57231	SNX14	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:397709
57231	SNX14	HP:0000729	Autistic behavior	HP:0040282	ORPHA:397709
57231	SNX14	HP:0000729	Autistic behavior	12/22	OMIM:616354
57231	SNX14	HP:0011463	Childhood onset	18/22	OMIM:616354
57231	SNX14	HP:0004482	Relative macrocephaly	HP:0040282	ORPHA:397709
57231	SNX14	HP:0004482	Relative macrocephaly	-	OMIM:616354
57231	SNX14	HP:0012810	Wide nasal base	-	OMIM:616354
57231	SNX14	HP:0012810	Wide nasal base	HP:0040283	ORPHA:397709
57231	SNX14	HP:0000998	Hypertrichosis	12/22	OMIM:616354
57231	SNX14	HP:0000286	Epicanthus	-	OMIM:616354
57231	SNX14	HP:0000283	Broad face	-	OMIM:616354
57231	SNX14	HP:0000280	Coarse facial features	HP:0040281	ORPHA:397709
57231	SNX14	HP:0000280	Coarse facial features	29/29	OMIM:616354
57231	SNX14	HP:0000293	Full cheeks	HP:0040283	ORPHA:397709
57231	SNX14	HP:0000289	Broad philtrum	-	OMIM:616354
57231	SNX14	HP:0000289	Broad philtrum	HP:0040283	ORPHA:397709
57231	SNX14	HP:0030084	Clinodactyly	HP:0040283	ORPHA:397709
57231	SNX14	HP:0030084	Clinodactyly	10/22	OMIM:616354
57231	SNX14	HP:0000218	High palate	-	OMIM:616354
57231	SNX14	HP:0000218	High palate	HP:0040283	ORPHA:397709
57231	SNX14	HP:0012385	Camptodactyly	HP:0040283	ORPHA:397709
57231	SNX14	HP:0012385	Camptodactyly	6/7	OMIM:616354
57231	SNX14	HP:0000365	Hearing impairment	5/22	OMIM:616354
57231	SNX14	HP:0000343	Long philtrum	HP:0040283	ORPHA:397709
57231	SNX14	HP:0000343	Long philtrum	6/7	OMIM:616354
57231	SNX14	HP:0000350	Small forehead	HP:0040283	ORPHA:397709
57231	SNX14	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:397709
57231	SNX14	HP:0000307	Pointed chin	HP:0040283	ORPHA:397709
57231	SNX14	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:397709
57231	SNX14	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:616354
57231	SNX14	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:397709
57231	SNX14	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:397709
57231	SNX14	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:397709
57231	SNX14	HP:0012471	Thick vermilion border	7/7	OMIM:616354
57231	SNX14	HP:0000463	Anteverted nares	-	OMIM:616354
57231	SNX14	HP:0012434	Delayed early-childhood social milestone development	22/22	OMIM:616354
57231	SNX14	HP:0000414	Bulbous nose	7/7	OMIM:616354
57231	SNX14	HP:0001744	Splenomegaly	5/22	OMIM:616354
57231	SNX14	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:397709
57231	SNX14	HP:0001762	Talipes equinovarus	3/6	OMIM:616354
57231	SNX14	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:397709
57231	SNX14	HP:0000506	Telecanthus	HP:0040283	ORPHA:397709
57231	SNX14	HP:0011220	Prominent forehead	-	OMIM:616354
57282	SLC4A10	HP:0001182	Tapered finger	1/5	OMIM:620746
57282	SLC4A10	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1/4	OMIM:620746
57282	SLC4A10	HP:0001250	Seizure	3/12	OMIM:620746
57282	SLC4A10	HP:0001252	Hypotonia	1/1	OMIM:620746
57282	SLC4A10	HP:0001251	Ataxia	2/2	OMIM:620746
57282	SLC4A10	HP:0001263	Global developmental delay	15/16	OMIM:620746
57282	SLC4A10	HP:0001347	Hyperreflexia	2/5	OMIM:620746
57282	SLC4A10	HP:0033725	Thin corpus callosum	3/7	OMIM:620746
57282	SLC4A10	HP:0001344	Absent speech	6/11	OMIM:620746
57282	SLC4A10	HP:0000006	Autosomal dominant inheritance	-	OMIM:620746
57282	SLC4A10	HP:0008936	Axial hypotonia	13/15	OMIM:620746
57282	SLC4A10	HP:0002783	Recurrent lower respiratory tract infections	2/5	OMIM:620746
57282	SLC4A10	HP:0002788	Recurrent upper respiratory tract infections	2/5	OMIM:620746
57282	SLC4A10	HP:0002079	Hypoplasia of the corpus callosum	1/5	OMIM:620746
57282	SLC4A10	HP:0002072	Chorea	1/11	OMIM:620746
57282	SLC4A10	HP:0003577	Congenital onset	2/5	OMIM:620746
57282	SLC4A10	HP:0002282	Gray matter heterotopia	3/7	OMIM:620746
57282	SLC4A10	HP:0034677	Ankle contracture	2/5	OMIM:620746
57282	SLC4A10	HP:0007074	Thick corpus callosum	2/5	OMIM:620746
57282	SLC4A10	HP:0002376	Developmental regression	1/10	OMIM:620746
57282	SLC4A10	HP:0200012	Short corpus callosum	3/7	OMIM:620746
57282	SLC4A10	HP:0010804	Tented upper lip vermilion	1/5	OMIM:620746
57282	SLC4A10	HP:0100699	Scarring	3/11	OMIM:620746
57282	SLC4A10	HP:0003623	Neonatal onset	3/5	OMIM:620746
57282	SLC4A10	HP:0000601	Hypotelorism	2/5	OMIM:620746
57282	SLC4A10	HP:0000664	Synophrys	2/11	OMIM:620746
57282	SLC4A10	HP:0000752	Hyperactivity	1/5	OMIM:620746
57282	SLC4A10	HP:0100023	Recurrent hand flapping	2/5	OMIM:620746
57282	SLC4A10	HP:0000739	Anxiety	1/5	OMIM:620746
57282	SLC4A10	HP:0000718	Aggressive behavior	2/5	OMIM:620746
57282	SLC4A10	HP:0004443	Lambdoidal craniosynostosis	1/5	OMIM:620746
57282	SLC4A10	HP:0003186	Inverted nipples	1/5	OMIM:620746
57282	SLC4A10	HP:0034353	Appendicular spasticity	2/5	OMIM:620746
57282	SLC4A10	HP:6000989	Slit-like lateral ventricle	3/5	OMIM:620746
57282	SLC4A10	HP:0000278	Retrognathia	1/11	OMIM:620746
57282	SLC4A10	HP:0000276	Long face	1/5	OMIM:620746
57282	SLC4A10	HP:0002812	Coxa vara	1/5	OMIM:620746
57282	SLC4A10	HP:0000252	Microcephaly	6/15	OMIM:620746
57282	SLC4A10	HP:0001508	Failure to thrive	4/10	OMIM:620746
57282	SLC4A10	HP:0001518	Small for gestational age	3/10	OMIM:620746
57282	SLC4A10	HP:0012389	Appendicular hypotonia	6/15	OMIM:620746
57282	SLC4A10	HP:0000384	Preauricular skin tag	1/11	OMIM:620746
57282	SLC4A10	HP:0000365	Hearing impairment	0/10	OMIM:620746
57282	SLC4A10	HP:0000358	Posteriorly rotated ears	2/5	OMIM:620746
57282	SLC4A10	HP:0000369	Low-set ears	1/5	OMIM:620746
57282	SLC4A10	HP:0000343	Long philtrum	1/5	OMIM:620746
57282	SLC4A10	HP:0000303	Mandibular prognathia	2/11	OMIM:620746
57282	SLC4A10	HP:0000400	Macrotia	2/16	OMIM:620746
57282	SLC4A10	HP:0000463	Anteverted nares	1/11	OMIM:620746
57282	SLC4A10	HP:0000411	Protruding ear	1/11	OMIM:620746
57282	SLC4A10	HP:0000431	Wide nasal bridge	1/11	OMIM:620746
57282	SLC4A10	HP:0005487	Prominent metopic ridge	1/5	OMIM:620746
57282	SLC4A10	HP:0000527	Long eyelashes	1/11	OMIM:620746
57282	SLC4A10	HP:0000505	Visual impairment	0/10	OMIM:620746
57338	JPH3	HP:0002476	Primitive reflex	HP:0040283	ORPHA:98934
57338	JPH3	HP:0001288	Gait disturbance	HP:0040283	ORPHA:98934
57338	JPH3	HP:0001260	Dysarthria	-	OMIM:606438
57338	JPH3	HP:0010994	Abnormal corpus striatum morphology	HP:0040283	ORPHA:98934
57338	JPH3	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:98934
57338	JPH3	HP:0001347	Hyperreflexia	-	OMIM:606438
57338	JPH3	HP:0001332	Dystonia	HP:0040283	ORPHA:98934
57338	JPH3	HP:0001332	Dystonia	-	OMIM:606438
57338	JPH3	HP:0000006	Autosomal dominant inheritance	-	OMIM:606438
57338	JPH3	HP:0001300	Parkinsonism	HP:0040283	ORPHA:98934
57338	JPH3	HP:0002067	Bradykinesia	-	OMIM:606438
57338	JPH3	HP:0002063	Rigidity	-	OMIM:606438
57338	JPH3	HP:0002060	Abnormal cerebral morphology	HP:0040283	ORPHA:98934
57338	JPH3	HP:0002072	Chorea	HP:0040283	ORPHA:98934
57338	JPH3	HP:0002072	Chorea	1/1	OMIM:606438
57338	JPH3	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:98934
57338	JPH3	HP:0002120	Cerebral cortical atrophy	1/1	OMIM:606438
57338	JPH3	HP:0003596	Middle age onset	4/4	OMIM:606438
57338	JPH3	HP:0002345	Action tremor	-	OMIM:606438
57338	JPH3	HP:0002340	Caudate atrophy	HP:0040283	ORPHA:98934
57338	JPH3	HP:0002354	Memory impairment	HP:0040283	ORPHA:98934
57338	JPH3	HP:0002354	Memory impairment	1/1	OMIM:606438
57338	JPH3	HP:0007123	Subcortical dementia	1/1	OMIM:606438
57338	JPH3	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:98934
57338	JPH3	HP:0004305	Involuntary movements	HP:0040283	ORPHA:98934
57338	JPH3	HP:0000751	Personality changes	HP:0040282	ORPHA:98934
57338	JPH3	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:98934
57338	JPH3	HP:0000738	Hallucinations	-	OMIM:606438
57338	JPH3	HP:0000737	Irritability	-	OMIM:606438
57338	JPH3	HP:0000739	Anxiety	-	OMIM:606438
57338	JPH3	HP:0000746	Delusion	-	OMIM:606438
57338	JPH3	HP:0000741	Apathy	-	OMIM:606438
57338	JPH3	HP:0000716	Depression	-	OMIM:606438
57338	JPH3	HP:0000726	Dementia	HP:0040283	ORPHA:98934
57338	JPH3	HP:0000726	Dementia	-	OMIM:606438
57338	JPH3	HP:0000708	Atypical behavior	HP:0040283	ORPHA:98934
57338	JPH3	HP:0030216	Inertia	1/1	OMIM:606438
57338	JPH3	HP:0001824	Weight loss	HP:0040283	ORPHA:98934
57338	JPH3	HP:0001824	Weight loss	-	OMIM:606438
57379	AICDA	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	-	OMIM:605258
57379	AICDA	HP:0000007	Autosomal recessive inheritance	-	OMIM:605258
57379	AICDA	HP:0002718	Recurrent bacterial infections	18/18	OMIM:605258
57379	AICDA	HP:0002716	Lymphadenopathy	13/18	OMIM:605258
57379	AICDA	HP:0002720	Decreased circulating IgA concentration	18/18	OMIM:605258
57379	AICDA	HP:0002721	Immunodeficiency	-	OMIM:605258
57379	AICDA	HP:0004798	Recurrent infection of the gastrointestinal tract	18/18	OMIM:605258
57379	AICDA	HP:0003496	Increased circulating IgM level	15/18	OMIM:605258
57379	AICDA	HP:0002205	Recurrent respiratory infections	18/18	OMIM:605258
57379	AICDA	HP:0200117	Recurrent upper and lower respiratory tract infections	-	OMIM:605258
57379	AICDA	HP:0004315	Decreased circulating IgG concentration	18/18	OMIM:605258
57379	AICDA	HP:0011463	Childhood onset	18/18	OMIM:605258
57379	AICDA	HP:0002959	Impaired Ig class switch recombination	-	OMIM:605258
57393	CLTRN	HP:0001250	Seizure	HP:0040283	ORPHA:2116
57393	CLTRN	HP:0001252	Hypotonia	HP:0040281	ORPHA:2116
57393	CLTRN	HP:0001251	Ataxia	HP:0040281	ORPHA:2116
57393	CLTRN	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2116
57393	CLTRN	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2116
57393	CLTRN	HP:0007400	Irregular hyperpigmentation	HP:0040283	ORPHA:2116
57393	CLTRN	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:2116
57393	CLTRN	HP:0012086	Abnormal urinary color	HP:0040281	ORPHA:2116
57393	CLTRN	HP:0001337	Tremor	HP:0040282	ORPHA:2116
57393	CLTRN	HP:0002024	Malabsorption	HP:0040282	ORPHA:2116
57393	CLTRN	HP:0002076	Migraine	HP:0040281	ORPHA:2116
57393	CLTRN	HP:6000130	Elevated urinary indican level	HP:0040282	ORPHA:2116
57393	CLTRN	HP:0008353	Neutral hyperaminoaciduria	HP:0040281	ORPHA:2116
57393	CLTRN	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:2116
57393	CLTRN	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:2116
57393	CLTRN	HP:0002353	EEG abnormality	HP:0040281	ORPHA:2116
57393	CLTRN	HP:0000639	Nystagmus	HP:0040282	ORPHA:2116
57393	CLTRN	HP:0000613	Photophobia	HP:0040282	ORPHA:2116
57393	CLTRN	HP:0004322	Short stature	HP:0040283	ORPHA:2116
57393	CLTRN	HP:0000738	Hallucinations	HP:0040281	ORPHA:2116
57393	CLTRN	HP:0000739	Anxiety	HP:0040281	ORPHA:2116
57393	CLTRN	HP:0000712	Emotional lability	HP:0040281	ORPHA:2116
57393	CLTRN	HP:0000709	Psychosis	HP:0040283	ORPHA:2116
57393	CLTRN	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:2116
57393	CLTRN	HP:0000988	Skin rash	HP:0040282	ORPHA:2116
57393	CLTRN	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:2116
57393	CLTRN	HP:0000230	Gingivitis	HP:0040283	ORPHA:2116
57393	CLTRN	HP:0000206	Glossitis	HP:0040283	ORPHA:2116
57393	CLTRN	HP:0000486	Strabismus	HP:0040282	ORPHA:2116
57393	CLTRN	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:2116
57410	SCYL1	HP:0001152	Saccadic smooth pursuit	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0002460	Distal muscle weakness	3/3	OMIM:616719
57410	SCYL1	HP:0007328	Impaired pain sensation	1/3	OMIM:616719
57410	SCYL1	HP:0025268	Stuttering	3/3	OMIM:616719
57410	SCYL1	HP:0025268	Stuttering	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0001270	Motor delay	1/3	OMIM:616719
57410	SCYL1	HP:0001256	Intellectual disability, mild	1/3	OMIM:616719
57410	SCYL1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0001265	Hyporeflexia	2/3	OMIM:616719
57410	SCYL1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0001257	Spasticity	1/3	OMIM:616719
57410	SCYL1	HP:0001257	Spasticity	HP:0040284	ORPHA:466794
57410	SCYL1	HP:0001399	Hepatic failure	-	OMIM:616719
57410	SCYL1	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0001395	Hepatic fibrosis	2/3	OMIM:616719
57410	SCYL1	HP:0001347	Hyperreflexia	1/3	OMIM:616719
57410	SCYL1	HP:0001347	Hyperreflexia	HP:0040284	ORPHA:466794
57410	SCYL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616719
57410	SCYL1	HP:0001337	Tremor	3/3	OMIM:616719
57410	SCYL1	HP:0007663	Reduced visual acuity	-	ORPHA:466794
57410	SCYL1	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0002080	Intention tremor	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0002066	Gait ataxia	3/3	OMIM:616719
57410	SCYL1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0002070	Limb ataxia	1/3	OMIM:616719
57410	SCYL1	HP:0003474	Somatic sensory dysfunction	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0003401	Paresthesia	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0003401	Paresthesia	1/3	OMIM:616719
57410	SCYL1	HP:0003593	Infantile onset	2/3	OMIM:616719
57410	SCYL1	HP:0002240	Hepatomegaly	3/3	OMIM:616719
57410	SCYL1	HP:0002359	Frequent falls	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0002359	Frequent falls	2/3	OMIM:616719
57410	SCYL1	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0007141	Sensorimotor neuropathy	-	OMIM:616719
57410	SCYL1	HP:0006855	Cerebellar vermis atrophy	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0006855	Cerebellar vermis atrophy	3/3	OMIM:616719
57410	SCYL1	HP:0000648	Optic atrophy	HP:0040284	ORPHA:466794
57410	SCYL1	HP:0000641	Dysmetric saccades	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0001945	Fever	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0009055	Generalized limb muscle atrophy	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0011463	Childhood onset	1/3	OMIM:616719
57410	SCYL1	HP:0012852	Hepatic bridging fibrosis	2/2	OMIM:616719
57410	SCYL1	HP:0003202	Skeletal muscle atrophy	3/3	OMIM:616719
57410	SCYL1	HP:0006554	Acute hepatic failure	HP:0040282	ORPHA:466794
57410	SCYL1	HP:0002936	Distal sensory impairment	2/3	OMIM:616719
57410	SCYL1	HP:0001744	Splenomegaly	3/3	OMIM:616719
57410	SCYL1	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:616719
57410	SCYL1	HP:0001762	Talipes equinovarus	HP:0040284	ORPHA:466794
57449	PLEKHG5	HP:0002460	Distal muscle weakness	6/6	OMIM:615376
57449	PLEKHG5	HP:0002460	Distal muscle weakness	-	OMIM:611067
57449	PLEKHG5	HP:0007269	Spinal muscular atrophy	-	OMIM:611067
57449	PLEKHG5	HP:0003701	Proximal muscle weakness	-	OMIM:611067
57449	PLEKHG5	HP:0001288	Gait disturbance	-	OMIM:611067
57449	PLEKHG5	HP:0001284	Areflexia	6/6	OMIM:615376
57449	PLEKHG5	HP:0001284	Areflexia	-	OMIM:611067
57449	PLEKHG5	HP:0002515	Waddling gait	-	OMIM:611067
57449	PLEKHG5	HP:0000007	Autosomal recessive inheritance	-	OMIM:611067
57449	PLEKHG5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615376
57449	PLEKHG5	HP:0002650	Scoliosis	-	OMIM:611067
57449	PLEKHG5	HP:0002650	Scoliosis	1/1	OMIM:615376
57449	PLEKHG5	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:611067
57449	PLEKHG5	HP:0003307	Hyperlordosis	-	OMIM:611067
57449	PLEKHG5	HP:0003376	Steppage gait	1/1	OMIM:615376
57449	PLEKHG5	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	1/1	OMIM:615376
57449	PLEKHG5	HP:0008180	Mildly elevated creatine kinase	1/1	OMIM:615376
57449	PLEKHG5	HP:0009473	Joint contracture of the hand	-	OMIM:611067
57449	PLEKHG5	HP:0003474	Somatic sensory dysfunction	1/1	OMIM:615376
57449	PLEKHG5	HP:0003431	Decreased motor nerve conduction velocity	4/4	OMIM:615376
57449	PLEKHG5	HP:0003445	EMG: neuropathic changes	-	OMIM:611067
57449	PLEKHG5	HP:0003596	Middle age onset	4/5	OMIM:615376
57449	PLEKHG5	HP:0003551	Difficulty climbing stairs	-	OMIM:611067
57449	PLEKHG5	HP:0002366	Abnormal lower motor neuron morphology	-	OMIM:611067
57449	PLEKHG5	HP:0003697	Scapuloperoneal amyotrophy	-	OMIM:611067
57449	PLEKHG5	HP:0003693	Distal amyotrophy	6/6	OMIM:615376
57449	PLEKHG5	HP:0003693	Distal amyotrophy	-	OMIM:611067
57449	PLEKHG5	HP:0003678	Rapidly progressive	-	OMIM:611067
57449	PLEKHG5	HP:0003621	Juvenile onset	2/6	OMIM:615376
57449	PLEKHG5	HP:0011463	Childhood onset	-	OMIM:611067
57449	PLEKHG5	HP:0002936	Distal sensory impairment	4/4	OMIM:615376
57449	PLEKHG5	HP:0001765	Hammertoe	3/5	OMIM:615376
57449	PLEKHG5	HP:0001762	Talipes equinovarus	-	OMIM:611067
57449	PLEKHG5	HP:0001761	Pes cavus	5/5	OMIM:615376
57459	GATAD2B	HP:0002465	Poor speech	-	OMIM:615074
57459	GATAD2B	HP:0002465	Poor speech	HP:0040282	ORPHA:363686
57459	GATAD2B	HP:0002463	Language impairment	4/4	OMIM:615074
57459	GATAD2B	HP:0010864	Intellectual disability, severe	4/4	OMIM:615074
57459	GATAD2B	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:363686
57459	GATAD2B	HP:0100807	Long fingers	-	OMIM:615074
57459	GATAD2B	HP:0100807	Long fingers	HP:0040282	ORPHA:363686
57459	GATAD2B	HP:0001263	Global developmental delay	4/4	OMIM:615074
57459	GATAD2B	HP:0001263	Global developmental delay	HP:0040282	ORPHA:363686
57459	GATAD2B	HP:0008770	Obsessive-compulsive trait	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0002546	Incomprehensible speech	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:363686
57459	GATAD2B	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000047	Hypospadias	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:615074
57459	GATAD2B	HP:0001319	Neonatal hypotonia	-	OMIM:615074
57459	GATAD2B	HP:0000154	Wide mouth	HP:0040282	ORPHA:363686
57459	GATAD2B	HP:0000154	Wide mouth	-	OMIM:615074
57459	GATAD2B	HP:0008947	Floppy infant	HP:0040282	ORPHA:363686
57459	GATAD2B	HP:0002007	Frontal bossing	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:363686
57459	GATAD2B	HP:0010511	Long toe	-	OMIM:615074
57459	GATAD2B	HP:0010511	Long toe	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0003593	Infantile onset	-	OMIM:615074
57459	GATAD2B	HP:0002213	Fine hair	HP:0040282	ORPHA:363686
57459	GATAD2B	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0009836	Broad distal phalanx of finger	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000637	Long palpebral fissure	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000629	Periorbital fullness	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000752	Hyperactivity	HP:0040282	ORPHA:363686
57459	GATAD2B	HP:0000752	Hyperactivity	HP:0040283	OMIM:615074
57459	GATAD2B	HP:0100033	Tics	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0100033	Tics	HP:0040283	OMIM:615074
57459	GATAD2B	HP:0000748	Inappropriate laughter	-	OMIM:615074
57459	GATAD2B	HP:0000748	Inappropriate laughter	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000744	Low frustration tolerance	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000742	Self-mutilation	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000729	Autistic behavior	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0045025	Narrow palpebral fissure	-	OMIM:615074
57459	GATAD2B	HP:0045025	Narrow palpebral fissure	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0008070	Sparse hair	4/4	OMIM:615074
57459	GATAD2B	HP:0000286	Epicanthus	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000273	Facial grimacing	HP:0040282	ORPHA:363686
57459	GATAD2B	HP:0001566	Widely-spaced maxillary central incisors	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000219	Thin upper lip vermilion	-	OMIM:615074
57459	GATAD2B	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:363686
57459	GATAD2B	HP:0000218	High palate	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000337	Broad forehead	HP:0040282	ORPHA:363686
57459	GATAD2B	HP:0000337	Broad forehead	-	OMIM:615074
57459	GATAD2B	HP:0000347	Micrognathia	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000316	Hypertelorism	-	OMIM:615074
57459	GATAD2B	HP:0000316	Hypertelorism	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000322	Short philtrum	HP:0040282	ORPHA:363686
57459	GATAD2B	HP:0000322	Short philtrum	4/4	OMIM:615074
57459	GATAD2B	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000484	Hyperopic astigmatism	HP:0040282	ORPHA:363686
57459	GATAD2B	HP:0000483	Astigmatism	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000486	Strabismus	4/4	OMIM:615074
57459	GATAD2B	HP:0000486	Strabismus	HP:0040282	ORPHA:363686
57459	GATAD2B	HP:0000490	Deeply set eye	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000490	Deeply set eye	-	OMIM:615074
57459	GATAD2B	HP:0012448	Delayed myelination	HP:0040282	ORPHA:363686
57459	GATAD2B	HP:0012450	Chronic constipation	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:363686
57459	GATAD2B	HP:0000455	Broad nasal tip	4/4	OMIM:615074
57459	GATAD2B	HP:0000431	Wide nasal bridge	-	OMIM:615074
57459	GATAD2B	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:363686
57459	GATAD2B	HP:0000581	Blepharophimosis	-	OMIM:615074
57459	GATAD2B	HP:0000540	Hypermetropia	-	OMIM:615074
57462	MYORG	HP:0002461	Cerebellar dentate nucleus calcification	12/12	OMIM:618317
57462	MYORG	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:1980
57462	MYORG	HP:0007256	Abnormal pyramidal sign	-	OMIM:618317
57462	MYORG	HP:0001268	Mental deterioration	3/13	OMIM:618317
57462	MYORG	HP:0001250	Seizure	HP:0040282	ORPHA:1980
57462	MYORG	HP:0001251	Ataxia	5/12	OMIM:618317
57462	MYORG	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:1980
57462	MYORG	HP:0001260	Dysarthria	1/1	OMIM:618317
57462	MYORG	HP:0007352	Cerebellar calcifications	HP:0040283	ORPHA:1980
57462	MYORG	HP:0001350	Slurred speech	7/13	OMIM:618317
57462	MYORG	HP:0001350	Slurred speech	HP:0040283	ORPHA:1980
57462	MYORG	HP:0001347	Hyperreflexia	-	OMIM:618317
57462	MYORG	HP:0001332	Dystonia	HP:0040283	ORPHA:1980
57462	MYORG	HP:0001332	Dystonia	-	OMIM:618317
57462	MYORG	HP:0000012	Urinary urgency	HP:0040283	ORPHA:1980
57462	MYORG	HP:0000007	Autosomal recessive inheritance	-	OMIM:618317
57462	MYORG	HP:0001337	Tremor	HP:0040282	ORPHA:1980
57462	MYORG	HP:0033748	Hypoesthesia	1/1	OMIM:618317
57462	MYORG	HP:0001310	Dysmetria	-	OMIM:618317
57462	MYORG	HP:0001315	Reduced tendon reflexes	1/1	OMIM:618317
57462	MYORG	HP:0001300	Parkinsonism	-	OMIM:618317
57462	MYORG	HP:0002015	Dysphagia	HP:0040283	ORPHA:1980
57462	MYORG	HP:0002015	Dysphagia	-	OMIM:618317
57462	MYORG	HP:0002067	Bradykinesia	HP:0040282	ORPHA:1980
57462	MYORG	HP:0002067	Bradykinesia	1/1	OMIM:618317
57462	MYORG	HP:0003394	Muscle spasm	HP:0040283	ORPHA:1980
57462	MYORG	HP:0002063	Rigidity	HP:0040282	ORPHA:1980
57462	MYORG	HP:0002076	Migraine	2/12	OMIM:618317
57462	MYORG	HP:0002072	Chorea	1/12	OMIM:618317
57462	MYORG	HP:0003388	Easy fatigability	HP:0040283	ORPHA:1980
57462	MYORG	HP:0002135	Basal ganglia calcification	12/12	OMIM:618317
57462	MYORG	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:1980
57462	MYORG	HP:0003596	Middle age onset	1/1	OMIM:618317
57462	MYORG	HP:0003581	Adult onset	12/12	OMIM:618317
57462	MYORG	HP:0002344	Progressive neurologic deterioration	HP:0040282	ORPHA:1980
57462	MYORG	HP:0003676	Progressive	1/1	OMIM:618317
57462	MYORG	HP:0002354	Memory impairment	HP:0040283	ORPHA:1980
57462	MYORG	HP:0002354	Memory impairment	-	OMIM:618317
57462	MYORG	HP:0002321	Vertigo	HP:0040282	ORPHA:1980
57462	MYORG	HP:0002317	Unsteady gait	HP:0040283	ORPHA:1980
57462	MYORG	HP:0002315	Headache	HP:0040282	ORPHA:1980
57462	MYORG	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1980
57462	MYORG	HP:0025041	Thalamic calcification	9/13	OMIM:618317
57462	MYORG	HP:0007146	Bilateral basal ganglia lesions	HP:0040282	ORPHA:1980
57462	MYORG	HP:0032180	Abnormal circulating metabolite concentration	-	ORPHA:1980
57462	MYORG	HP:0002312	Clumsiness	HP:0040283	ORPHA:1980
57462	MYORG	HP:0004305	Involuntary movements	HP:0040283	ORPHA:1980
57462	MYORG	HP:0031987	Diminished ability to concentrate	HP:0040283	ORPHA:1980
57462	MYORG	HP:0000802	Impotence	HP:0040283	ORPHA:1980
57462	MYORG	HP:0000751	Personality changes	HP:0040282	ORPHA:1980
57462	MYORG	HP:0000739	Anxiety	HP:0040282	ORPHA:1980
57462	MYORG	HP:0000726	Dementia	HP:0040282	ORPHA:1980
57462	MYORG	HP:0000709	Psychosis	HP:0040282	ORPHA:1980
57462	MYORG	HP:0000709	Psychosis	HP:0040284	OMIM:618317
57462	MYORG	HP:0011450	Unusual CNS infection	-	ORPHA:1980
57462	MYORG	HP:0000822	Hypertension	HP:0040283	ORPHA:1980
57462	MYORG	HP:0000298	Mask-like facies	HP:0040282	ORPHA:1980
57462	MYORG	HP:0012444	Brain atrophy	1/1	OMIM:618317
57462	MYORG	HP:0000571	Hypometric saccades	-	OMIM:618317
57465	TBC1D24	HP:0001167	Abnormal finger morphology	HP:0040281	ORPHA:79500
57465	TBC1D24	HP:0025100	Abnormal hippocampus morphology	HP:0040283	ORPHA:352582
57465	TBC1D24	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:220500
57465	TBC1D24	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040282	ORPHA:352582
57465	TBC1D24	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0001199	Triphalangeal thumb	9/29	OMIM:220500
57465	TBC1D24	HP:0025152	Poor visual behavior for age	HP:0040283	ORPHA:352596
57465	TBC1D24	HP:0020221	Clonic seizure	2/2	OMIM:615338
57465	TBC1D24	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:352596
57465	TBC1D24	HP:0009882	Short distal phalanx of finger	30/30	OMIM:220500
57465	TBC1D24	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0001290	Generalized hypotonia	-	OMIM:220500
57465	TBC1D24	HP:0001276	Hypertonia	HP:0040283	ORPHA:293181
57465	TBC1D24	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:352582
57465	TBC1D24	HP:0001271	Polyneuropathy	3/3	OMIM:220500
57465	TBC1D24	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:293181
57465	TBC1D24	HP:0001270	Motor delay	HP:0040283	ORPHA:352582
57465	TBC1D24	HP:0001269	Hemiparesis	HP:0040283	ORPHA:352596
57465	TBC1D24	HP:0001269	Hemiparesis	-	OMIM:615338
57465	TBC1D24	HP:0001288	Gait disturbance	HP:0040283	ORPHA:352582
57465	TBC1D24	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:352582
57465	TBC1D24	HP:0001250	Seizure	HP:0040283	ORPHA:163727
57465	TBC1D24	HP:0001250	Seizure	4/4	OMIM:605021
57465	TBC1D24	HP:0001250	Seizure	HP:0040281	ORPHA:352582
57465	TBC1D24	HP:0001250	Seizure	27/31	OMIM:220500
57465	TBC1D24	HP:0001252	Hypotonia	HP:0040282	ORPHA:293181
57465	TBC1D24	HP:0001252	Hypotonia	-	OMIM:220500
57465	TBC1D24	HP:0001252	Hypotonia	2/2	OMIM:615338
57465	TBC1D24	HP:0001251	Ataxia	HP:0040283	ORPHA:352582
57465	TBC1D24	HP:0001251	Ataxia	1/4	OMIM:605021
57465	TBC1D24	HP:0001249	Intellectual disability	4/4	OMIM:605021
57465	TBC1D24	HP:0001249	Intellectual disability	-	OMIM:220500
57465	TBC1D24	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0001265	Hyporeflexia	-	OMIM:220500
57465	TBC1D24	HP:0001260	Dysarthria	2/6	OMIM:608105
57465	TBC1D24	HP:0001260	Dysarthria	HP:0040282	ORPHA:352582
57465	TBC1D24	HP:0001260	Dysarthria	3/4	OMIM:605021
57465	TBC1D24	HP:0001263	Global developmental delay	4/4	OMIM:605021
57465	TBC1D24	HP:0001263	Global developmental delay	HP:0040281	ORPHA:79500
57465	TBC1D24	HP:0001263	Global developmental delay	HP:0040283	ORPHA:352596
57465	TBC1D24	HP:0001263	Global developmental delay	HP:0040283	ORPHA:352582
57465	TBC1D24	HP:0001263	Global developmental delay	24/24	OMIM:220500
57465	TBC1D24	HP:0001263	Global developmental delay	12/12	OMIM:615338
57465	TBC1D24	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:352596
57465	TBC1D24	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:79500
57465	TBC1D24	HP:0032388	Periventricular nodular heterotopia	HP:0040283	ORPHA:352582
57465	TBC1D24	HP:0007359	Focal-onset seizure	-	OMIM:605021
57465	TBC1D24	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:352582
57465	TBC1D24	HP:0007332	Focal hemifacial clonic seizure	-	OMIM:608105
57465	TBC1D24	HP:0007332	Focal hemifacial clonic seizure	HP:0040282	ORPHA:163727
57465	TBC1D24	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:293181
57465	TBC1D24	HP:0002540	Inability to walk	HP:0040281	ORPHA:293181
57465	TBC1D24	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:293181
57465	TBC1D24	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:352596
57465	TBC1D24	HP:0025373	Interictal EEG abnormality	HP:0040282	ORPHA:352582
57465	TBC1D24	HP:0000062	Ambiguous genitalia	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0012012	EEG with parietal focal spike waves	HP:0040282	ORPHA:163727
57465	TBC1D24	HP:0001332	Dystonia	HP:0040281	ORPHA:352596
57465	TBC1D24	HP:0001332	Dystonia	-	OMIM:615338
57465	TBC1D24	HP:0001326	EEG with irregular generalized spike and wave complexes	HP:0040282	ORPHA:352596
57465	TBC1D24	HP:0000007	Autosomal recessive inheritance	-	OMIM:608105
57465	TBC1D24	HP:0000007	Autosomal recessive inheritance	-	OMIM:605021
57465	TBC1D24	HP:0000007	Autosomal recessive inheritance	-	OMIM:614617
57465	TBC1D24	HP:0000007	Autosomal recessive inheritance	-	OMIM:220500
57465	TBC1D24	HP:0000007	Autosomal recessive inheritance	-	OMIM:615338
57465	TBC1D24	HP:0000006	Autosomal dominant inheritance	-	OMIM:616044
57465	TBC1D24	HP:0001336	Myoclonus	HP:0040281	ORPHA:352596
57465	TBC1D24	HP:0001336	Myoclonus	-	OMIM:608105
57465	TBC1D24	HP:0001336	Myoclonus	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0001336	Myoclonus	-	OMIM:615338
57465	TBC1D24	HP:0001305	Dandy-Walker malformation	HP:0040283	OMIM:220500
57465	TBC1D24	HP:0001305	Dandy-Walker malformation	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0002650	Scoliosis	HP:0040283	ORPHA:293181
57465	TBC1D24	HP:0000187	Broad alveolar ridges	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0000189	Narrow palate	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0000179	Thick lower lip vermilion	14/19	OMIM:220500
57465	TBC1D24	HP:0000179	Thick lower lip vermilion	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0000194	Open mouth	12/17	OMIM:220500
57465	TBC1D24	HP:0000194	Open mouth	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0001488	Bilateral ptosis	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0000175	Cleft palate	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0000175	Cleft palate	4/24	OMIM:220500
57465	TBC1D24	HP:0008947	Floppy infant	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0008935	Generalized neonatal hypotonia	HP:0040282	ORPHA:352596
57465	TBC1D24	HP:0031282	Malalignment of the great toenail	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0032524	Long thumb	17/28	OMIM:220500
57465	TBC1D24	HP:0002788	Recurrent upper respiratory tract infections	HP:0040281	ORPHA:352596
57465	TBC1D24	HP:0000126	Hydronephrosis	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0000104	Renal agenesis	HP:0040283	OMIM:220500
57465	TBC1D24	HP:0002714	Downturned corners of mouth	15/18	OMIM:220500
57465	TBC1D24	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0002033	Poor suck	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0002007	Frontal bossing	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0004626	Lumbar scoliosis	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:293181
57465	TBC1D24	HP:0002098	Respiratory distress	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:293181
57465	TBC1D24	HP:0002069	Bilateral tonic-clonic seizure	1/6	OMIM:608105
57465	TBC1D24	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:352582
57465	TBC1D24	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:605021
57465	TBC1D24	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0002066	Gait ataxia	2/4	OMIM:605021
57465	TBC1D24	HP:0002070	Limb ataxia	1/4	OMIM:605021
57465	TBC1D24	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:352596
57465	TBC1D24	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:615338
57465	TBC1D24	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:293181
57465	TBC1D24	HP:0002059	Cerebral atrophy	-	OMIM:220500
57465	TBC1D24	HP:0002059	Cerebral atrophy	2/2	OMIM:615338
57465	TBC1D24	HP:0008110	Equinovarus deformity	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0010497	Sirenomelia	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0002139	Arrhinencephaly	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0002123	Generalized myoclonic seizure	-	OMIM:605021
57465	TBC1D24	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:352596
57465	TBC1D24	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:352582
57465	TBC1D24	HP:0002119	Ventriculomegaly	-	OMIM:220500
57465	TBC1D24	HP:0002133	Status epilepticus	HP:0040282	ORPHA:352596
57465	TBC1D24	HP:0002133	Status epilepticus	-	OMIM:615338
57465	TBC1D24	HP:0002126	Polymicrogyria	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0002188	Delayed CNS myelination	HP:0040282	ORPHA:352596
57465	TBC1D24	HP:0010546	Muscle fibrillation	1/4	OMIM:605021
57465	TBC1D24	HP:0008221	Adrenal hyperplasia	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0033258	Sudden unexpected death in epilepsy	1/2	OMIM:615338
57465	TBC1D24	HP:0002268	Paroxysmal dystonia	HP:0040282	ORPHA:163727
57465	TBC1D24	HP:0002268	Paroxysmal dystonia	6/6	OMIM:608105
57465	TBC1D24	HP:0003593	Infantile onset	2/6	OMIM:608105
57465	TBC1D24	HP:0003593	Infantile onset	4/4	OMIM:605021
57465	TBC1D24	HP:0003593	Infantile onset	2/2	OMIM:615338
57465	TBC1D24	HP:0003577	Congenital onset	-	OMIM:614617
57465	TBC1D24	HP:0003577	Congenital onset	1/1	OMIM:220500
57465	TBC1D24	HP:0100797	Toenail dysplasia	HP:0040281	ORPHA:79500
57465	TBC1D24	HP:0200134	Epileptic encephalopathy	HP:0040282	ORPHA:352596
57465	TBC1D24	HP:0200134	Epileptic encephalopathy	2/2	OMIM:615338
57465	TBC1D24	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:352596
57465	TBC1D24	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0011968	Feeding difficulties	1/1	OMIM:615338
57465	TBC1D24	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:79500
57465	TBC1D24	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:293181
57465	TBC1D24	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0002378	Hand tremor	5/6	OMIM:608105
57465	TBC1D24	HP:0002376	Developmental regression	HP:0040281	ORPHA:293181
57465	TBC1D24	HP:0002376	Developmental regression	HP:0040282	ORPHA:352596
57465	TBC1D24	HP:0002376	Developmental regression	2/2	OMIM:615338
57465	TBC1D24	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	-	OMIM:605021
57465	TBC1D24	HP:0003676	Progressive	-	OMIM:220500
57465	TBC1D24	HP:0003676	Progressive	-	OMIM:615338
57465	TBC1D24	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:352582
57465	TBC1D24	HP:0002356	Writer's cramp	HP:0040282	ORPHA:163727
57465	TBC1D24	HP:0002356	Writer's cramp	3/6	OMIM:608105
57465	TBC1D24	HP:0002353	EEG abnormality	HP:0040281	ORPHA:79500
57465	TBC1D24	HP:0003677	Slowly progressive	-	OMIM:616044
57465	TBC1D24	HP:0010841	Multifocal epileptiform discharges	HP:0040281	ORPHA:293181
57465	TBC1D24	HP:0010821	Focal emotional seizure with laughing	HP:0040282	ORPHA:293181
57465	TBC1D24	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0007104	Prolonged somatosensory evoked potentials	-	OMIM:608105
57465	TBC1D24	HP:0007104	Prolonged somatosensory evoked potentials	HP:0040282	ORPHA:163727
57465	TBC1D24	HP:0002301	Hemiplegia	HP:0040283	ORPHA:352596
57465	TBC1D24	HP:0002312	Clumsiness	HP:0040283	ORPHA:352582
57465	TBC1D24	HP:0031834	Aortopulmonary collateral arteries	HP:0040283	ORPHA:293181
57465	TBC1D24	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0004209	Clinodactyly of the 5th finger	9/29	OMIM:220500
57465	TBC1D24	HP:0006829	Severe muscular hypotonia	-	OMIM:615338
57465	TBC1D24	HP:0006813	Focal hemiclonic seizure	HP:0040282	ORPHA:293181
57465	TBC1D24	HP:0006889	Intellectual disability, borderline	HP:0040283	ORPHA:352582
57465	TBC1D24	HP:0006891	Thick cerebral cortex	HP:0040282	ORPHA:352582
57465	TBC1D24	HP:0000639	Nystagmus	3/6	OMIM:608105
57465	TBC1D24	HP:0000648	Optic atrophy	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0000648	Optic atrophy	HP:0040284	ORPHA:352596
57465	TBC1D24	HP:0000648	Optic atrophy	8/28	OMIM:220500
57465	TBC1D24	HP:0000648	Optic atrophy	HP:0040283	OMIM:615338
57465	TBC1D24	HP:0000643	Blepharospasm	HP:0040283	ORPHA:352582
57465	TBC1D24	HP:0000618	Blindness	-	OMIM:220500
57465	TBC1D24	HP:0000696	Delayed eruption of permanent teeth	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0000675	Macrodontia of permanent maxillary central incisor	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0011326	Anterior plagiocephaly	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0000687	Widely spaced teeth	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0000666	Horizontal nystagmus	-	OMIM:608105
57465	TBC1D24	HP:0000666	Horizontal nystagmus	HP:0040282	ORPHA:163727
57465	TBC1D24	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:293181
57465	TBC1D24	HP:0006934	Congenital nystagmus	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0000800	Cystic renal dysplasia	HP:0040283	OMIM:220500
57465	TBC1D24	HP:0011409	Abnormal placental membrane morphology	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0012725	Cutaneous syndactyly	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:352582
57465	TBC1D24	HP:0000729	Autistic behavior	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0011463	Childhood onset	4/6	OMIM:608105
57465	TBC1D24	HP:0011462	Young adult onset	19/19	OMIM:616044
57465	TBC1D24	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:293181
57465	TBC1D24	HP:0004442	Sagittal craniosynostosis	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0000878	11 pairs of ribs	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0000851	Congenital hypothyroidism	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0012810	Wide nasal base	HP:0040281	ORPHA:79500
57465	TBC1D24	HP:0000826	Precocious puberty	HP:0040284	ORPHA:293181
57465	TBC1D24	HP:0009237	Short 5th finger	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0009237	Short 5th finger	21/29	OMIM:220500
57465	TBC1D24	HP:0003298	Spina bifida occulta	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0045084	Limb myoclonus	HP:0040283	ORPHA:352582
57465	TBC1D24	HP:0100275	Diffuse cerebellar atrophy	HP:0040283	ORPHA:352596
57465	TBC1D24	HP:0010347	Aplasia/Hypoplasia of the phalanges of the 2nd toe	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0000286	Epicanthus	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0000286	Epicanthus	8/19	OMIM:220500
57465	TBC1D24	HP:0000280	Coarse facial features	14/18	OMIM:220500
57465	TBC1D24	HP:0000280	Coarse facial features	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0000294	Low anterior hairline	5/15	OMIM:220500
57465	TBC1D24	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0000269	Prominent occiput	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0000252	Microcephaly	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0000252	Microcephaly	HP:0040282	ORPHA:293181
57465	TBC1D24	HP:0000252	Microcephaly	HP:0040282	ORPHA:352596
57465	TBC1D24	HP:0000252	Microcephaly	7/26	OMIM:220500
57465	TBC1D24	HP:0000252	Microcephaly	HP:0040283	OMIM:615338
57465	TBC1D24	HP:0000248	Brachycephaly	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0000219	Thin upper lip vermilion	13/21	OMIM:220500
57465	TBC1D24	HP:0000218	High palate	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0000218	High palate	7/20	OMIM:220500
57465	TBC1D24	HP:0000212	Gingival overgrowth	3/3	OMIM:220500
57465	TBC1D24	HP:0000212	Gingival overgrowth	HP:0040281	ORPHA:79500
57465	TBC1D24	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0000232	Everted lower lip vermilion	-	OMIM:220500
57465	TBC1D24	HP:0000200	Short lingual frenulum	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0001508	Failure to thrive	HP:0040283	ORPHA:293181
57465	TBC1D24	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:293181
57465	TBC1D24	HP:0002937	Hemivertebrae	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0000365	Hearing impairment	11/11	OMIM:614617
57465	TBC1D24	HP:0000365	Hearing impairment	-	OMIM:220500
57465	TBC1D24	HP:0031423	Small cerebellar cortex	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0011003	High myopia	-	OMIM:220500
57465	TBC1D24	HP:0000369	Low-set ears	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0000369	Low-set ears	10/17	OMIM:220500
57465	TBC1D24	HP:0000341	Narrow forehead	12/17	OMIM:220500
57465	TBC1D24	HP:0000343	Long philtrum	HP:0040281	ORPHA:79500
57465	TBC1D24	HP:0000343	Long philtrum	19/20	OMIM:220500
57465	TBC1D24	HP:0032794	Myoclonic seizure	HP:0040282	ORPHA:293181
57465	TBC1D24	HP:0000316	Hypertelorism	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0000316	Hypertelorism	8/15	OMIM:220500
57465	TBC1D24	HP:0001643	Patent ductus arteriosus	2/30	OMIM:220500
57465	TBC1D24	HP:0001629	Ventricular septal defect	3/30	OMIM:220500
57465	TBC1D24	HP:0001631	Atrial septal defect	2/30	OMIM:220500
57465	TBC1D24	HP:0011197	EEG with focal spike waves	HP:0040282	ORPHA:352582
57465	TBC1D24	HP:0031629	Impaired tandem gait	2/2	OMIM:605021
57465	TBC1D24	HP:0011171	Simple febrile seizure	HP:0040282	ORPHA:352582
57465	TBC1D24	HP:0011153	Focal motor seizure	6/6	OMIM:608105
57465	TBC1D24	HP:0005306	Capillary hemangioma	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0000407	Sensorineural hearing impairment	27/27	OMIM:220500
57465	TBC1D24	HP:0001730	Progressive hearing impairment	19/19	OMIM:616044
57465	TBC1D24	HP:0001719	Double outlet right ventricle	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0000486	Strabismus	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0000463	Anteverted nares	HP:0040281	ORPHA:79500
57465	TBC1D24	HP:0000463	Anteverted nares	18/20	OMIM:220500
57465	TBC1D24	HP:0012448	Delayed myelination	HP:0040283	ORPHA:293181
57465	TBC1D24	HP:0012448	Delayed myelination	-	OMIM:615338
57465	TBC1D24	HP:0000455	Broad nasal tip	HP:0040283	ORPHA:79500
57465	TBC1D24	HP:0000474	Thickened nuchal skin fold	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0000474	Thickened nuchal skin fold	3/5	OMIM:220500
57465	TBC1D24	HP:0001798	Anonychia	-	OMIM:220500
57465	TBC1D24	HP:0001780	Abnormal toe morphology	HP:0040281	ORPHA:79500
57465	TBC1D24	HP:0001751	Abnormal vestibular function	0/9	OMIM:616044
57465	TBC1D24	HP:0012402	Increased urine alpha-ketoglutarate concentration	-	OMIM:220500
57465	TBC1D24	HP:0012402	Increased urine alpha-ketoglutarate concentration	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0000414	Bulbous nose	20/20	OMIM:220500
57465	TBC1D24	HP:0000414	Bulbous nose	HP:0040282	ORPHA:79500
57465	TBC1D24	HP:0000413	Atresia of the external auditory canal	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:79500
57465	TBC1D24	HP:0000431	Wide nasal bridge	18/19	OMIM:220500
57465	TBC1D24	HP:0011295	EEG with parietal sharp waves	HP:0040282	ORPHA:163727
57465	TBC1D24	HP:0005484	Secondary microcephaly	-	OMIM:615338
57465	TBC1D24	HP:0000518	Cataract	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0000518	Cataract	-	OMIM:220500
57465	TBC1D24	HP:0000520	Proptosis	HP:0040283	ORPHA:352582
57465	TBC1D24	HP:0000508	Ptosis	4/16	OMIM:220500
57465	TBC1D24	HP:0000505	Visual impairment	HP:0040283	ORPHA:293181
57465	TBC1D24	HP:0001804	Hypoplastic fingernail	30/30	OMIM:220500
57465	TBC1D24	HP:0001800	Hypoplastic toenails	31/31	OMIM:220500
57465	TBC1D24	HP:0001817	Absent fingernail	HP:0040281	ORPHA:79500
57465	TBC1D24	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:79500
57465	TBC1D24	HP:0000572	Visual loss	-	OMIM:615338
57465	TBC1D24	HP:0000545	Myopia	HP:0040283	ORPHA:79500
57466	SCAF4	HP:0002435	Meningocele	2/11	OMIM:620511
57466	SCAF4	HP:0001276	Hypertonia	1/7	OMIM:620511
57466	SCAF4	HP:0001272	Cerebellar atrophy	1/8	OMIM:620511
57466	SCAF4	HP:0001250	Seizure	7/11	OMIM:620511
57466	SCAF4	HP:0001252	Hypotonia	4/7	OMIM:620511
57466	SCAF4	HP:0001249	Intellectual disability	2/2	OMIM:620511
57466	SCAF4	HP:0001263	Global developmental delay	11/11	OMIM:620511
57466	SCAF4	HP:0002575	Tracheoesophageal fistula	1/7	OMIM:620511
57466	SCAF4	HP:0001382	Joint hypermobility	1/1	OMIM:620511
57466	SCAF4	HP:0000003	Multicystic kidney dysplasia	2/5	OMIM:620511
57466	SCAF4	HP:0000006	Autosomal dominant inheritance	-	OMIM:620511
57466	SCAF4	HP:0002650	Scoliosis	1/9	OMIM:620511
57466	SCAF4	HP:0000122	Unilateral renal agenesis	1/5	OMIM:620511
57466	SCAF4	HP:0000126	Hydronephrosis	1/5	OMIM:620511
57466	SCAF4	HP:0002023	Anal atresia	1/7	OMIM:620511
57466	SCAF4	HP:0002079	Hypoplasia of the corpus callosum	1/8	OMIM:620511
57466	SCAF4	HP:0002144	Tethered cord	2/10	OMIM:620511
57466	SCAF4	HP:0003593	Infantile onset	9/10	OMIM:620511
57466	SCAF4	HP:0003577	Congenital onset	1/9	OMIM:620511
57466	SCAF4	HP:0100716	Self-injurious behavior	1/9	OMIM:620511
57466	SCAF4	HP:0011968	Feeding difficulties	1/1	OMIM:620511
57466	SCAF4	HP:0020045	Esodeviation	1/1	OMIM:620511
57466	SCAF4	HP:0031936	Delayed ability to walk	2/10	OMIM:620511
57466	SCAF4	HP:0000767	Pectus excavatum	1/9	OMIM:620511
57466	SCAF4	HP:0000750	Delayed speech and language development	7/7	OMIM:620511
57466	SCAF4	HP:0000718	Aggressive behavior	5/9	OMIM:620511
57466	SCAF4	HP:0000729	Autistic behavior	5/9	OMIM:620511
57466	SCAF4	HP:0011463	Childhood onset	1/1	OMIM:620511
57466	SCAF4	HP:0000286	Epicanthus	1/10	OMIM:620511
57466	SCAF4	HP:0002808	Kyphosis	2/9	OMIM:620511
57466	SCAF4	HP:0000252	Microcephaly	1/5	OMIM:620511
57466	SCAF4	HP:0000218	High palate	1/1	OMIM:620511
57466	SCAF4	HP:0001513	Obesity	2/10	OMIM:620511
57466	SCAF4	HP:0000343	Long philtrum	1/1	OMIM:620511
57466	SCAF4	HP:0012304	Hypoplastic aortic arch	1/5	OMIM:620511
57466	SCAF4	HP:0001647	Bicuspid aortic valve	1/5	OMIM:620511
57466	SCAF4	HP:0001629	Ventricular septal defect	3/4	OMIM:620511
57466	SCAF4	HP:0001763	Pes planus	1/1	OMIM:620511
57466	SCAF4	HP:0000414	Bulbous nose	1/1	OMIM:620511
57466	SCAF4	HP:0001822	Hallux valgus	1/9	OMIM:620511
57468	SLC12A5	HP:0003781	Excessive salivation	-	OMIM:616645
57468	SLC12A5	HP:0007256	Abnormal pyramidal sign	-	OMIM:616645
57468	SLC12A5	HP:0001276	Hypertonia	HP:0040283	ORPHA:293181
57468	SLC12A5	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:293181
57468	SLC12A5	HP:0001250	Seizure	9/9	OMIM:616685
57468	SLC12A5	HP:0001250	Seizure	-	OMIM:616645
57468	SLC12A5	HP:0001252	Hypotonia	HP:0040282	ORPHA:293181
57468	SLC12A5	HP:0001249	Intellectual disability	-	OMIM:616645
57468	SLC12A5	HP:0001263	Global developmental delay	-	OMIM:616645
57468	SLC12A5	HP:0007359	Focal-onset seizure	-	OMIM:616645
57468	SLC12A5	HP:0007334	Bilateral tonic-clonic seizure with focal onset	-	OMIM:616645
57468	SLC12A5	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:293181
57468	SLC12A5	HP:0002540	Inability to walk	HP:0040281	ORPHA:293181
57468	SLC12A5	HP:0002540	Inability to walk	-	OMIM:616645
57468	SLC12A5	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:293181
57468	SLC12A5	HP:0003829	Typified by incomplete penetrance	-	OMIM:616685
57468	SLC12A5	HP:0000007	Autosomal recessive inheritance	-	OMIM:616645
57468	SLC12A5	HP:0000006	Autosomal dominant inheritance	-	OMIM:616685
57468	SLC12A5	HP:0002650	Scoliosis	HP:0040283	ORPHA:293181
57468	SLC12A5	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:293181
57468	SLC12A5	HP:0002069	Bilateral tonic-clonic seizure	6/9	OMIM:616685
57468	SLC12A5	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:293181
57468	SLC12A5	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:293181
57468	SLC12A5	HP:0002059	Cerebral atrophy	-	OMIM:616645
57468	SLC12A5	HP:0002123	Generalized myoclonic seizure	3/9	OMIM:616685
57468	SLC12A5	HP:0002121	Generalized non-motor (absence) seizure	4/9	OMIM:616685
57468	SLC12A5	HP:0002133	Status epilepticus	-	OMIM:616645
57468	SLC12A5	HP:0002188	Delayed CNS myelination	-	OMIM:616645
57468	SLC12A5	HP:0003593	Infantile onset	-	OMIM:616645
57468	SLC12A5	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:293181
57468	SLC12A5	HP:0002376	Developmental regression	HP:0040281	ORPHA:293181
57468	SLC12A5	HP:0002376	Developmental regression	-	OMIM:616645
57468	SLC12A5	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	0/8	OMIM:616685
57468	SLC12A5	HP:0010841	Multifocal epileptiform discharges	HP:0040281	ORPHA:293181
57468	SLC12A5	HP:0010821	Focal emotional seizure with laughing	HP:0040282	ORPHA:293181
57468	SLC12A5	HP:0003621	Juvenile onset	3/7	OMIM:616685
57468	SLC12A5	HP:0031834	Aortopulmonary collateral arteries	HP:0040283	ORPHA:293181
57468	SLC12A5	HP:0006813	Focal hemiclonic seizure	-	OMIM:616645
57468	SLC12A5	HP:0006813	Focal hemiclonic seizure	HP:0040282	ORPHA:293181
57468	SLC12A5	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:293181
57468	SLC12A5	HP:0011463	Childhood onset	1/7	OMIM:616685
57468	SLC12A5	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:293181
57468	SLC12A5	HP:0000826	Precocious puberty	HP:0040284	ORPHA:293181
57468	SLC12A5	HP:0000252	Microcephaly	HP:0040282	ORPHA:293181
57468	SLC12A5	HP:0001508	Failure to thrive	HP:0040283	ORPHA:293181
57468	SLC12A5	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:293181
57468	SLC12A5	HP:0032794	Myoclonic seizure	HP:0040282	ORPHA:293181
57468	SLC12A5	HP:0012448	Delayed myelination	HP:0040283	ORPHA:293181
57468	SLC12A5	HP:0025709	Intermediate young adult onset	2/7	OMIM:616685
57468	SLC12A5	HP:0005484	Secondary microcephaly	-	OMIM:616645
57468	SLC12A5	HP:0000505	Visual impairment	HP:0040283	ORPHA:293181
57477	SHROOM4	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:85288
57477	SHROOM4	HP:0001250	Seizure	HP:0040282	ORPHA:85288
57477	SHROOM4	HP:0008780	Congenital bilateral hip dislocation	HP:0040282	ORPHA:85288
57477	SHROOM4	HP:0001344	Absent speech	HP:0040283	ORPHA:85288
57477	SHROOM4	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:85288
57477	SHROOM4	HP:0001007	Hirsutism	HP:0040282	ORPHA:85288
57477	SHROOM4	HP:0004322	Short stature	HP:0040282	ORPHA:85288
57477	SHROOM4	HP:0000752	Hyperactivity	HP:0040282	ORPHA:85288
57477	SHROOM4	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:85288
57477	SHROOM4	HP:0003144	Increased serum serotonin	HP:0040283	ORPHA:85288
57477	SHROOM4	HP:0000286	Epicanthus	HP:0040282	ORPHA:85288
57477	SHROOM4	HP:0002808	Kyphosis	HP:0040282	ORPHA:85288
57477	SHROOM4	HP:0001518	Small for gestational age	HP:0040282	ORPHA:85288
57477	SHROOM4	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:85288
57477	SHROOM4	HP:0000486	Strabismus	HP:0040282	ORPHA:85288
57477	SHROOM4	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:85288
57477	SHROOM4	HP:0000518	Cataract	HP:0040283	ORPHA:85288
57479	PRR12	HP:0009900	Unilateral deafness	1/3	OMIM:619539
57479	PRR12	HP:0001187	Hyperextensibility of the finger joints	1/3	OMIM:619539
57479	PRR12	HP:0001182	Tapered finger	1/3	OMIM:619539
57479	PRR12	HP:0009908	Anterior creases of earlobe	1/3	OMIM:619539
57479	PRR12	HP:0001270	Motor delay	3/3	OMIM:619539
57479	PRR12	HP:0001249	Intellectual disability	3/3	OMIM:619539
57479	PRR12	HP:0001263	Global developmental delay	6/8	OMIM:619539
57479	PRR12	HP:0001212	Prominent fingertip pads	1/3	OMIM:619539
57479	PRR12	HP:0002553	Highly arched eyebrow	1/3	OMIM:619539
57479	PRR12	HP:0001348	Brisk reflexes	1/3	OMIM:619539
57479	PRR12	HP:0006191	Deep palmar crease	1/3	OMIM:619539
57479	PRR12	HP:0000006	Autosomal dominant inheritance	-	OMIM:619539
57479	PRR12	HP:0000176	Submucous cleft hard palate	1/3	OMIM:619539
57479	PRR12	HP:0008936	Axial hypotonia	1/3	OMIM:619539
57479	PRR12	HP:0002714	Downturned corners of mouth	1/3	OMIM:619539
57479	PRR12	HP:0011800	Midface retrusion	1/3	OMIM:619539
57479	PRR12	HP:0003577	Congenital onset	3/3	OMIM:619539
57479	PRR12	HP:0100719	Lens coloboma	1/3	OMIM:619539
57479	PRR12	HP:0009743	Distichiasis	1/3	OMIM:619539
57479	PRR12	HP:0100786	Hypersomnia	1/3	OMIM:619539
57479	PRR12	HP:0100789	Torus palatinus	1/3	OMIM:619539
57479	PRR12	HP:0002299	Brittle hair	1/5	OMIM:619539
57479	PRR12	HP:0007018	Attention deficit hyperactivity disorder	2/3	OMIM:619539
57479	PRR12	HP:0003691	Scapular winging	1/3	OMIM:619539
57479	PRR12	HP:0010812	Short uvula	1/3	OMIM:619539
57479	PRR12	HP:0001088	Brushfield spots	1/3	OMIM:619539
57479	PRR12	HP:0100694	Tibial torsion	1/3	OMIM:619539
57479	PRR12	HP:0004209	Clinodactyly of the 5th finger	1/3	OMIM:619539
57479	PRR12	HP:0000639	Nystagmus	2/5	OMIM:619539
57479	PRR12	HP:0000635	Blue irides	2/3	OMIM:619539
57479	PRR12	HP:0000637	Long palpebral fissure	1/3	OMIM:619539
57479	PRR12	HP:0000646	Amblyopia	1/3	OMIM:619539
57479	PRR12	HP:0000612	Iris coloboma	3/8	OMIM:619539
57479	PRR12	HP:0000687	Widely spaced teeth	1/3	OMIM:619539
57479	PRR12	HP:0000659	Peters anomaly	3/5	OMIM:619539
57479	PRR12	HP:0000664	Synophrys	2/3	OMIM:619539
57479	PRR12	HP:0004322	Short stature	2/5	OMIM:619539
57479	PRR12	HP:0006970	Periventricular leukomalacia	1/5	OMIM:619539
57479	PRR12	HP:0000767	Pectus excavatum	1/3	OMIM:619539
57479	PRR12	HP:0000739	Anxiety	2/3	OMIM:619539
57479	PRR12	HP:0000750	Delayed speech and language development	3/3	OMIM:619539
57479	PRR12	HP:0000729	Autistic behavior	2/3	OMIM:619539
57479	PRR12	HP:0012775	Stellate iris	3/3	OMIM:619539
57479	PRR12	HP:0010296	Ankyloglossia	1/3	OMIM:619539
57479	PRR12	HP:0030822	Hooded upper eyelid	1/3	OMIM:619539
57479	PRR12	HP:0000960	Sacral dimple	1/3	OMIM:619539
57479	PRR12	HP:0000278	Retrognathia	1/3	OMIM:619539
57479	PRR12	HP:0007750	Hypoplasia of the fovea	1/5	OMIM:619539
57479	PRR12	HP:0002816	Genu recurvatum	1/3	OMIM:619539
57479	PRR12	HP:0000252	Microcephaly	2/3	OMIM:619539
57479	PRR12	HP:0030001	Lagophthalmos	1/3	OMIM:619539
57479	PRR12	HP:0002870	Obstructive sleep apnea	1/3	OMIM:619539
57479	PRR12	HP:0031354	Sleep onset insomnia	1/3	OMIM:619539
57479	PRR12	HP:0001537	Umbilical hernia	1/3	OMIM:619539
57479	PRR12	HP:0011094	Increased overbite	1/3	OMIM:619539
57479	PRR12	HP:0000378	Cupped ear	1/3	OMIM:619539
57479	PRR12	HP:0000369	Low-set ears	2/3	OMIM:619539
57479	PRR12	HP:0000336	Prominent supraorbital ridges	1/3	OMIM:619539
57479	PRR12	HP:0001655	Patent foramen ovale	1/3	OMIM:619539
57479	PRR12	HP:0007968	Remnants of the hyaloid vascular system	1/5	OMIM:619539
57479	PRR12	HP:0000482	Microcornea	1/5	OMIM:619539
57479	PRR12	HP:0000494	Downslanted palpebral fissures	2/6	OMIM:619539
57479	PRR12	HP:0000490	Deeply set eye	1/3	OMIM:619539
57479	PRR12	HP:0001792	Small nail	1/3	OMIM:619539
57479	PRR12	HP:0001763	Pes planus	1/3	OMIM:619539
57479	PRR12	HP:0000518	Cataract	1/5	OMIM:619539
57479	PRR12	HP:0000527	Long eyelashes	1/3	OMIM:619539
57479	PRR12	HP:0000508	Ptosis	2/3	OMIM:619539
57479	PRR12	HP:0000501	Glaucoma	1/5	OMIM:619539
57479	PRR12	HP:0000579	Nasolacrimal duct obstruction	1/3	OMIM:619539
57479	PRR12	HP:0000577	Exotropia	3/3	OMIM:619539
57479	PRR12	HP:0000574	Thick eyebrow	1/3	OMIM:619539
57479	PRR12	HP:0000568	Microphthalmia	3/5	OMIM:619539
57479	PRR12	HP:0000540	Hypermetropia	1/5	OMIM:619539
57479	PRR12	HP:0000545	Myopia	2/3	OMIM:619539
57492	ARID1B	HP:0009928	Thick nasal alae	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0009879	Simplified gyral pattern	HP:0040283	ORPHA:1465
57492	ARID1B	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
57492	ARID1B	HP:0001293	Cranial nerve compression	-	OMIM:131300
57492	ARID1B	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:251056
57492	ARID1B	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:1465
57492	ARID1B	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:251056
57492	ARID1B	HP:0001250	Seizure	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0001250	Seizure	HP:0040283	ORPHA:251056
57492	ARID1B	HP:0001250	Seizure	3/9	OMIM:135900
57492	ARID1B	HP:0001252	Hypotonia	HP:0040283	ORPHA:251056
57492	ARID1B	HP:0001252	Hypotonia	7/9	OMIM:135900
57492	ARID1B	HP:0001252	Hypotonia	2/7	OMIM:615777
57492	ARID1B	HP:0001249	Intellectual disability	-	OMIM:135900
57492	ARID1B	HP:0001249	Intellectual disability	5/7	OMIM:615777
57492	ARID1B	HP:0001263	Global developmental delay	HP:0040281	ORPHA:251056
57492	ARID1B	HP:0001263	Global developmental delay	9/9	OMIM:135900
57492	ARID1B	HP:0001263	Global developmental delay	-	OMIM:615777
57492	ARID1B	HP:0002592	Gastric ulcer	-	OMIM:135900
57492	ARID1B	HP:0002588	Duodenal ulcer	-	OMIM:135900
57492	ARID1B	HP:0002576	Intussusception	-	OMIM:135900
57492	ARID1B	HP:0002566	Intestinal malrotation	-	OMIM:135900
57492	ARID1B	HP:0008665	Clitoral hypertrophy	1/5	OMIM:135900
57492	ARID1B	HP:0001212	Prominent fingertip pads	-	OMIM:135900
57492	ARID1B	HP:0002515	Waddling gait	54/102	OMIM:131300
57492	ARID1B	HP:0000089	Renal hypoplasia	-	OMIM:135900
57492	ARID1B	HP:0000086	Ectopic kidney	-	OMIM:135900
57492	ARID1B	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:1465
57492	ARID1B	HP:0000072	Hydroureter	1/9	OMIM:135900
57492	ARID1B	HP:0001382	Joint hypermobility	-	OMIM:135900
57492	ARID1B	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0001382	Joint hypermobility	-	OMIM:615777
57492	ARID1B	HP:0000047	Hypospadias	-	OMIM:135900
57492	ARID1B	HP:0000047	Hypospadias	HP:0040283	ORPHA:1465
57492	ARID1B	HP:0000023	Inguinal hernia	-	OMIM:135900
57492	ARID1B	HP:0002694	Sclerosis of skull base	-	OMIM:131300
57492	ARID1B	HP:0001357	Plagiocephaly	2/9	OMIM:135900
57492	ARID1B	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:251056
57492	ARID1B	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0000028	Cryptorchidism	1/4	OMIM:135900
57492	ARID1B	HP:0008897	Postnatal growth retardation	-	OMIM:135900
57492	ARID1B	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0008897	Postnatal growth retardation	-	OMIM:615777
57492	ARID1B	HP:0006237	Prominent interphalangeal joints	-	OMIM:135900
57492	ARID1B	HP:0008872	Feeding difficulties in infancy	-	OMIM:135900
57492	ARID1B	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
57492	ARID1B	HP:0001324	Muscle weakness	40/96	OMIM:131300
57492	ARID1B	HP:0001344	Absent speech	HP:0040283	ORPHA:1465
57492	ARID1B	HP:0002673	Coxa valga	-	OMIM:135900
57492	ARID1B	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
57492	ARID1B	HP:0001338	Partial agenesis of the corpus callosum	-	OMIM:135900
57492	ARID1B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
57492	ARID1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
57492	ARID1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:135900
57492	ARID1B	HP:0001305	Dandy-Walker malformation	-	OMIM:135900
57492	ARID1B	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:1465
57492	ARID1B	HP:0002650	Scoliosis	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0002650	Scoliosis	-	OMIM:135900
57492	ARID1B	HP:0002650	Scoliosis	12/14	OMIM:131300
57492	ARID1B	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:251056
57492	ARID1B	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
57492	ARID1B	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
57492	ARID1B	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
57492	ARID1B	HP:0000179	Thick lower lip vermilion	-	OMIM:135900
57492	ARID1B	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:1465
57492	ARID1B	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
57492	ARID1B	HP:0000175	Cleft palate	HP:0040283	ORPHA:251056
57492	ARID1B	HP:0000175	Cleft palate	4/9	OMIM:135900
57492	ARID1B	HP:0000175	Cleft palate	2/7	OMIM:615777
57492	ARID1B	HP:0000154	Wide mouth	1/9	OMIM:135900
57492	ARID1B	HP:0000154	Wide mouth	HP:0040281	ORPHA:1465
57492	ARID1B	HP:0000151	Aplasia of the uterus	-	OMIM:135900
57492	ARID1B	HP:0008947	Floppy infant	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0000126	Hydronephrosis	-	OMIM:135900
57492	ARID1B	HP:0002750	Delayed skeletal maturation	-	OMIM:135900
57492	ARID1B	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0002719	Recurrent infections	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0002007	Frontal bossing	3/9	OMIM:135900
57492	ARID1B	HP:0002066	Gait ataxia	1/9	OMIM:135900
57492	ARID1B	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:135900
57492	ARID1B	HP:0003388	Easy fatigability	36/76	OMIM:131300
57492	ARID1B	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
57492	ARID1B	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:251056
57492	ARID1B	HP:0011937	Hypoplastic fifth toenail	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0002188	Delayed CNS myelination	1/9	OMIM:135900
57492	ARID1B	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:251056
57492	ARID1B	HP:0002219	Facial hypertrichosis	-	OMIM:135900
57492	ARID1B	HP:0002209	Sparse scalp hair	1/9	OMIM:135900
57492	ARID1B	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0002205	Recurrent respiratory infections	1/9	OMIM:135900
57492	ARID1B	HP:0009747	Lumbosacral hirsutism	-	OMIM:135900
57492	ARID1B	HP:0100790	Hernia	HP:0040283	ORPHA:1465
57492	ARID1B	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:1465
57492	ARID1B	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0003510	Severe short stature	7/7	OMIM:615777
57492	ARID1B	HP:0008398	Hypoplastic fifth fingernail	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0008398	Hypoplastic fifth fingernail	-	OMIM:135900
57492	ARID1B	HP:0001028	Hemangioma	1/9	OMIM:135900
57492	ARID1B	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0001007	Hirsutism	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0002315	Headache	-	OMIM:131300
57492	ARID1B	HP:0004976	Knee dislocation	6/7	OMIM:615777
57492	ARID1B	HP:0009803	Short phalanx of finger	-	OMIM:615777
57492	ARID1B	HP:0009763	Limb pain	63/92	OMIM:131300
57492	ARID1B	HP:0003621	Juvenile onset	-	OMIM:131300
57492	ARID1B	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
57492	ARID1B	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:251056
57492	ARID1B	HP:0004209	Clinodactyly of the 5th finger	2/9	OMIM:135900
57492	ARID1B	HP:0006863	Severe expressive language delay	-	OMIM:135900
57492	ARID1B	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
57492	ARID1B	HP:0004227	Short distal phalanx of the 5th finger	-	OMIM:135900
57492	ARID1B	HP:0000639	Nystagmus	-	OMIM:135900
57492	ARID1B	HP:6001056	Out-toeing	-	OMIM:131300
57492	ARID1B	HP:0000651	Diplopia	-	OMIM:131300
57492	ARID1B	HP:0001956	Truncal obesity	2/7	OMIM:615777
57492	ARID1B	HP:0000601	Hypotelorism	-	OMIM:135900
57492	ARID1B	HP:0001903	Anemia	HP:0040283	OMIM:131300
57492	ARID1B	HP:0010049	Short metacarpal	-	OMIM:615777
57492	ARID1B	HP:0011359	Dry hair	1/9	OMIM:135900
57492	ARID1B	HP:0000698	Conical tooth	2/9	OMIM:135900
57492	ARID1B	HP:0000684	Delayed eruption of teeth	-	OMIM:135900
57492	ARID1B	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0000678	Dental crowding	-	OMIM:615777
57492	ARID1B	HP:0000691	Microdontia	4/8	OMIM:135900
57492	ARID1B	HP:0000670	Carious teeth	-	OMIM:131300
57492	ARID1B	HP:0012639	Abnormal nervous system morphology	HP:0040282	ORPHA:251056
57492	ARID1B	HP:0011304	Broad thumb	2/7	OMIM:615777
57492	ARID1B	HP:0000668	Hypodontia	-	OMIM:615777
57492	ARID1B	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0000664	Synophrys	-	OMIM:615777
57492	ARID1B	HP:0004322	Short stature	HP:0040282	ORPHA:251056
57492	ARID1B	HP:0004322	Short stature	-	OMIM:135900
57492	ARID1B	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:251056
57492	ARID1B	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	-	OMIM:135900
57492	ARID1B	HP:0003083	Dislocated radial head	-	OMIM:135900
57492	ARID1B	HP:0004396	Poor appetite	-	OMIM:131300
57492	ARID1B	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
57492	ARID1B	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
57492	ARID1B	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
57492	ARID1B	HP:0003026	Short long bone	7/7	OMIM:615777
57492	ARID1B	HP:0031936	Delayed ability to walk	8/9	OMIM:135900
57492	ARID1B	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
57492	ARID1B	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1465
57492	ARID1B	HP:0000767	Pectus excavatum	2/7	OMIM:615777
57492	ARID1B	HP:0000768	Pectus carinatum	1/7	OMIM:615777
57492	ARID1B	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
57492	ARID1B	HP:0000750	Delayed speech and language development	9/9	OMIM:135900
57492	ARID1B	HP:0000750	Delayed speech and language development	-	OMIM:615777
57492	ARID1B	HP:0000718	Aggressive behavior	1/9	OMIM:135900
57492	ARID1B	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:1465
57492	ARID1B	HP:0000729	Autistic behavior	1/9	OMIM:135900
57492	ARID1B	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1465
57492	ARID1B	HP:0000722	Compulsive behaviors	HP:0040284	OMIM:135900
57492	ARID1B	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0011461	Fetal onset	7/7	OMIM:615777
57492	ARID1B	HP:0000774	Narrow chest	2/7	OMIM:615777
57492	ARID1B	HP:0000776	Congenital diaphragmatic hernia	-	OMIM:135900
57492	ARID1B	HP:0003196	Short nose	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0000926	Platyspondyly	1/7	OMIM:615777
57492	ARID1B	HP:0003180	Flat acetabular roof	-	OMIM:615777
57492	ARID1B	HP:0004482	Relative macrocephaly	-	OMIM:615777
57492	ARID1B	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
57492	ARID1B	HP:0000879	Short sternum	-	OMIM:135900
57492	ARID1B	HP:0100391	Short distal phalanx of the 5th toe	-	OMIM:135900
57492	ARID1B	HP:0012810	Wide nasal base	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0000823	Delayed puberty	-	OMIM:131300
57492	ARID1B	HP:0000894	Short clavicles	-	OMIM:615777
57492	ARID1B	HP:0009237	Short 5th finger	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0003241	External genital hypoplasia	HP:0040283	ORPHA:251056
57492	ARID1B	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
57492	ARID1B	HP:0003298	Spina bifida occulta	-	OMIM:135900
57492	ARID1B	HP:0000998	Hypertrichosis	2/9	OMIM:135900
57492	ARID1B	HP:0000998	Hypertrichosis	HP:0040281	ORPHA:1465
57492	ARID1B	HP:0000954	Single transverse palmar crease	3/9	OMIM:135900
57492	ARID1B	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
57492	ARID1B	HP:0000965	Cutis marmorata	-	OMIM:135900
57492	ARID1B	HP:0000960	Sacral dimple	1/9	OMIM:135900
57492	ARID1B	HP:0000286	Epicanthus	HP:0040282	ORPHA:251056
57492	ARID1B	HP:0000286	Epicanthus	1/7	OMIM:615777
57492	ARID1B	HP:0000280	Coarse facial features	-	OMIM:135900
57492	ARID1B	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1465
57492	ARID1B	HP:0000280	Coarse facial features	2/7	OMIM:615777
57492	ARID1B	HP:0000278	Retrognathia	4/9	OMIM:135900
57492	ARID1B	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0000289	Broad philtrum	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0000272	Malar flattening	HP:0040282	ORPHA:251056
57492	ARID1B	HP:0002827	Hip dislocation	3/7	OMIM:615777
57492	ARID1B	HP:0030084	Clinodactyly	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0002808	Kyphosis	-	OMIM:135900
57492	ARID1B	HP:0000252	Microcephaly	HP:0040284	ORPHA:1465
57492	ARID1B	HP:0000252	Microcephaly	HP:0040281	ORPHA:251056
57492	ARID1B	HP:0000252	Microcephaly	-	OMIM:135900
57492	ARID1B	HP:0000252	Microcephaly	-	OMIM:615777
57492	ARID1B	HP:0000248	Brachycephaly	2/9	OMIM:135900
57492	ARID1B	HP:0002884	Hepatoblastoma	HP:0040284	ORPHA:1465
57492	ARID1B	HP:0000219	Thin upper lip vermilion	6/9	OMIM:135900
57492	ARID1B	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0000218	High palate	HP:0040282	ORPHA:251056
57492	ARID1B	HP:0000218	High palate	2/9	OMIM:135900
57492	ARID1B	HP:0002895	Papillary thyroid carcinoma	HP:0040284	ORPHA:1465
57492	ARID1B	HP:0002857	Genu valgum	-	OMIM:131300
57492	ARID1B	HP:0001537	Umbilical hernia	-	OMIM:135900
57492	ARID1B	HP:0001533	Slender build	-	OMIM:131300
57492	ARID1B	HP:0001508	Failure to thrive	HP:0040282	ORPHA:251056
57492	ARID1B	HP:0001511	Intrauterine growth retardation	-	OMIM:135900
57492	ARID1B	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:1465
57492	ARID1B	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
57492	ARID1B	HP:0001510	Growth delay	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0007807	Optic nerve compression	-	OMIM:131300
57492	ARID1B	HP:0000384	Preauricular skin tag	-	OMIM:135900
57492	ARID1B	HP:0012368	Flat face	7/7	OMIM:615777
57492	ARID1B	HP:0000377	Abnormal pinna morphology	-	OMIM:135900
57492	ARID1B	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:251056
57492	ARID1B	HP:0001609	Hoarse voice	-	OMIM:135900
57492	ARID1B	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
57492	ARID1B	HP:0006498	Aplasia/Hypoplasia of the patella	-	OMIM:135900
57492	ARID1B	HP:0000365	Hearing impairment	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0000365	Hearing impairment	1/9	OMIM:135900
57492	ARID1B	HP:0000365	Hearing impairment	10/67	OMIM:131300
57492	ARID1B	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:251056
57492	ARID1B	HP:0000358	Posteriorly rotated ears	-	OMIM:135900
57492	ARID1B	HP:0000369	Low-set ears	-	OMIM:135900
57492	ARID1B	HP:0000343	Long philtrum	HP:0040283	ORPHA:251056
57492	ARID1B	HP:0000343	Long philtrum	1/9	OMIM:135900
57492	ARID1B	HP:0000343	Long philtrum	1/7	OMIM:615777
57492	ARID1B	HP:0011001	Increased bone mineral density	-	OMIM:131300
57492	ARID1B	HP:0000347	Micrognathia	HP:0040283	ORPHA:251056
57492	ARID1B	HP:0000316	Hypertelorism	HP:0040282	ORPHA:251056
57492	ARID1B	HP:0000316	Hypertelorism	1/9	OMIM:135900
57492	ARID1B	HP:0001643	Patent ductus arteriosus	-	OMIM:135900
57492	ARID1B	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1465
57492	ARID1B	HP:0000311	Round face	2/7	OMIM:615777
57492	ARID1B	HP:0000331	Short chin	-	OMIM:135900
57492	ARID1B	HP:0000322	Short philtrum	-	OMIM:135900
57492	ARID1B	HP:0001629	Ventricular septal defect	-	OMIM:135900
57492	ARID1B	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:1465
57492	ARID1B	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0001620	Abnormally high-pitched voice	-	OMIM:135900
57492	ARID1B	HP:0002970	Genu varum	-	OMIM:615777
57492	ARID1B	HP:0001636	Tetralogy of Fallot	-	OMIM:135900
57492	ARID1B	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1465
57492	ARID1B	HP:0001631	Atrial septal defect	1/9	OMIM:135900
57492	ARID1B	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1465
57492	ARID1B	HP:0000303	Mandibular prognathia	-	OMIM:131300
57492	ARID1B	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:251056
57492	ARID1B	HP:0005280	Depressed nasal bridge	-	OMIM:135900
57492	ARID1B	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
57492	ARID1B	HP:0000483	Astigmatism	-	OMIM:135900
57492	ARID1B	HP:0000486	Strabismus	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0000486	Strabismus	3/9	OMIM:135900
57492	ARID1B	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:251056
57492	ARID1B	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:251056
57492	ARID1B	HP:0000494	Downslanted palpebral fissures	4/9	OMIM:135900
57492	ARID1B	HP:0001792	Small nail	HP:0040281	ORPHA:1465
57492	ARID1B	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0000455	Broad nasal tip	6/9	OMIM:135900
57492	ARID1B	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0000470	Short neck	1/7	OMIM:615777
57492	ARID1B	HP:0001798	Anonychia	-	OMIM:135900
57492	ARID1B	HP:0001769	Broad foot	HP:0040283	OMIM:615777
57492	ARID1B	HP:0001763	Pes planus	1/7	OMIM:615777
57492	ARID1B	HP:0000453	Choanal atresia	-	OMIM:135900
57492	ARID1B	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:251056
57492	ARID1B	HP:0001840	Metatarsus adductus	-	OMIM:615777
57492	ARID1B	HP:0000527	Long eyelashes	-	OMIM:135900
57492	ARID1B	HP:0001852	Sandal gap	2/9	OMIM:135900
57492	ARID1B	HP:0000520	Proptosis	2/4	OMIM:131300
57492	ARID1B	HP:0000520	Proptosis	7/7	OMIM:615777
57492	ARID1B	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:251056
57492	ARID1B	HP:0000508	Ptosis	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0000508	Ptosis	-	OMIM:135900
57492	ARID1B	HP:0000505	Visual impairment	-	OMIM:135900
57492	ARID1B	HP:0000505	Visual impairment	HP:0040282	ORPHA:1465
57492	ARID1B	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:251056
57492	ARID1B	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:251056
57492	ARID1B	HP:0000592	Blue sclerae	2/7	OMIM:615777
57492	ARID1B	HP:0011231	Prominent eyelashes	HP:0040281	ORPHA:1465
57492	ARID1B	HP:0000574	Thick eyebrow	-	OMIM:135900
57492	ARID1B	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:1465
57492	ARID1B	HP:0012523	Oral aversion	HP:0040283	ORPHA:1465
57492	ARID1B	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
57492	ARID1B	HP:0012514	Lower limb pain	4/4	OMIM:131300
57492	ARID1B	HP:0000545	Myopia	5/9	OMIM:135900
57492	ARID1B	HP:0000545	Myopia	HP:0040283	ORPHA:1465
57498	KIDINS220	HP:0001188	Hand clenching	2/3	OMIM:619501
57498	KIDINS220	HP:0001274	Agenesis of corpus callosum	1/3	OMIM:619501
57498	KIDINS220	HP:0001249	Intellectual disability	3/3	OMIM:617296
57498	KIDINS220	HP:0001249	Intellectual disability	HP:0040282	ORPHA:521390
57498	KIDINS220	HP:0001263	Global developmental delay	4/4	OMIM:617296
57498	KIDINS220	HP:0001258	Spastic paraplegia	3/3	OMIM:617296
57498	KIDINS220	HP:0002509	Limb hypertonia	2/3	OMIM:617296
57498	KIDINS220	HP:0025335	Delayed ability to stand	1/1	OMIM:617296
57498	KIDINS220	HP:0001347	Hyperreflexia	2/3	OMIM:617296
57498	KIDINS220	HP:0025312	Esophoria	HP:0040282	ORPHA:521390
57498	KIDINS220	HP:0001357	Plagiocephaly	3/3	OMIM:617296
57498	KIDINS220	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:521390
57498	KIDINS220	HP:0001338	Partial agenesis of the corpus callosum	1/3	OMIM:617296
57498	KIDINS220	HP:0000007	Autosomal recessive inheritance	-	OMIM:619501
57498	KIDINS220	HP:0000006	Autosomal dominant inheritance	-	OMIM:617296
57498	KIDINS220	HP:0001321	Cerebellar hypoplasia	2/3	OMIM:619501
57498	KIDINS220	HP:0007663	Reduced visual acuity	1/3	OMIM:617296
57498	KIDINS220	HP:0008936	Axial hypotonia	1/3	OMIM:617296
57498	KIDINS220	HP:0002007	Frontal bossing	1/3	OMIM:617296
57498	KIDINS220	HP:0002064	Spastic gait	1/1	OMIM:617296
57498	KIDINS220	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:521390
57498	KIDINS220	HP:0002059	Cerebral atrophy	2/3	OMIM:617296
57498	KIDINS220	HP:0002119	Ventriculomegaly	4/4	OMIM:619501
57498	KIDINS220	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:521390
57498	KIDINS220	HP:0002188	Delayed CNS myelination	1/3	OMIM:617296
57498	KIDINS220	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:521390
57498	KIDINS220	HP:0003593	Infantile onset	1/3	OMIM:617296
57498	KIDINS220	HP:0007020	Progressive spastic paraplegia	HP:0040282	ORPHA:521390
57498	KIDINS220	HP:0007082	Dilated third ventricle	2/3	OMIM:617296
57498	KIDINS220	HP:0001093	Optic nerve dysplasia	1/1	OMIM:617296
57498	KIDINS220	HP:0006895	Lower limb hypertonia	1/1	OMIM:617296
57498	KIDINS220	HP:0000639	Nystagmus	3/3	OMIM:617296
57498	KIDINS220	HP:0000639	Nystagmus	HP:0040282	ORPHA:521390
57498	KIDINS220	HP:0000678	Dental crowding	1/3	OMIM:617296
57498	KIDINS220	HP:0006956	Lateral ventricle dilatation	3/3	OMIM:617296
57498	KIDINS220	HP:0003049	Ulnar deviation of the wrist	1/3	OMIM:619501
57498	KIDINS220	HP:0011400	Abnormal CNS myelination	HP:0040282	ORPHA:521390
57498	KIDINS220	HP:0000750	Delayed speech and language development	4/4	OMIM:617296
57498	KIDINS220	HP:0011461	Fetal onset	4/4	OMIM:619501
57498	KIDINS220	HP:0011461	Fetal onset	2/3	OMIM:617296
57498	KIDINS220	HP:0000293	Full cheeks	2/4	OMIM:617296
57498	KIDINS220	HP:0002804	Arthrogryposis multiplex congenita	3/3	OMIM:619501
57498	KIDINS220	HP:0000248	Brachycephaly	3/3	OMIM:617296
57498	KIDINS220	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:521390
57498	KIDINS220	HP:0001561	Polyhydramnios	1/2	OMIM:617296
57498	KIDINS220	HP:0030051	Tip-toe gait	1/1	OMIM:617296
57498	KIDINS220	HP:0001513	Obesity	HP:0040282	ORPHA:521390
57498	KIDINS220	HP:0001513	Obesity	3/4	OMIM:617296
57498	KIDINS220	HP:0000347	Micrognathia	1/3	OMIM:619501
57498	KIDINS220	HP:0000322	Short philtrum	1/1	OMIM:617296
57498	KIDINS220	HP:0000483	Astigmatism	2/3	OMIM:617296
57498	KIDINS220	HP:0000486	Strabismus	2/3	OMIM:617296
57498	KIDINS220	HP:0000490	Deeply set eye	HP:0040282	ORPHA:521390
57498	KIDINS220	HP:0000490	Deeply set eye	2/3	OMIM:617296
57498	KIDINS220	HP:0001762	Talipes equinovarus	1/3	OMIM:619501
57498	KIDINS220	HP:0011220	Prominent forehead	HP:0040282	ORPHA:521390
57498	KIDINS220	HP:0011220	Prominent forehead	2/3	OMIM:617296
57498	KIDINS220	HP:0000565	Esotropia	1/3	OMIM:617296
57498	KIDINS220	HP:0000540	Hypermetropia	HP:0040282	ORPHA:521390
57498	KIDINS220	HP:0000540	Hypermetropia	3/3	OMIM:617296
57502	NLGN4X	HP:0003745	Sporadic	-	OMIM:300495
57502	NLGN4X	HP:0001256	Intellectual disability, mild	5/7	OMIM:300495
57502	NLGN4X	HP:0001250	Seizure	1/8	OMIM:300495
57502	NLGN4X	HP:0001357	Plagiocephaly	2/5	OMIM:300495
57502	NLGN4X	HP:0001426	Non-Mendelian inheritance	-	OMIM:300495
57502	NLGN4X	HP:0001417	X-linked inheritance	-	OMIM:300495
57502	NLGN4X	HP:0002353	EEG abnormality	HP:0040282	OMIM:300495
57502	NLGN4X	HP:0002332	Lack of peer relationships	-	OMIM:300495
57502	NLGN4X	HP:0000758	Abnormal nonverbal communicative behavior	-	OMIM:300495
57502	NLGN4X	HP:0000733	Motor stereotypy	-	OMIM:300495
57502	NLGN4X	HP:0000732	Inflexible adherence to routines	-	OMIM:300495
57502	NLGN4X	HP:0000750	Delayed speech and language development	-	OMIM:300495
57502	NLGN4X	HP:0000729	Autistic behavior	4/10	OMIM:300495
57502	NLGN4X	HP:0000723	Restrictive behavior	-	OMIM:300495
57502	NLGN4X	HP:0000721	Lack of spontaneous play	-	OMIM:300495
57502	NLGN4X	HP:0011463	Childhood onset	-	OMIM:300495
57502	NLGN4X	HP:0003144	Increased serum serotonin	HP:0040282	OMIM:300495
57505	AARS2	HP:0001272	Cerebellar atrophy	5/6	OMIM:615889
57505	AARS2	HP:0001270	Motor delay	1/2	OMIM:614096
57505	AARS2	HP:0001251	Ataxia	4/6	OMIM:615889
57505	AARS2	HP:0001265	Hyporeflexia	1/2	OMIM:614096
57505	AARS2	HP:0001260	Dysarthria	2/4	OMIM:615889
57505	AARS2	HP:0001257	Spasticity	2/6	OMIM:615889
57505	AARS2	HP:0003819	Death in childhood	1/2	OMIM:614096
57505	AARS2	HP:0003811	Neonatal death	1/2	OMIM:614096
57505	AARS2	HP:0001347	Hyperreflexia	5/6	OMIM:615889
57505	AARS2	HP:0001332	Dystonia	2/6	OMIM:615889
57505	AARS2	HP:0001324	Muscle weakness	2/6	OMIM:615889
57505	AARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615889
57505	AARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614096
57505	AARS2	HP:0025401	Staring gaze	1/2	OMIM:614096
57505	AARS2	HP:0003324	Generalized muscle weakness	1/2	OMIM:614096
57505	AARS2	HP:0002089	Pulmonary hypoplasia	2/2	OMIM:614096
57505	AARS2	HP:0003487	Babinski sign	4/6	OMIM:615889
57505	AARS2	HP:0002151	Increased circulating lactate concentration	1/2	OMIM:614096
57505	AARS2	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:614096
57505	AARS2	HP:0002186	Apraxia	1/6	OMIM:615889
57505	AARS2	HP:0002180	Neurodegeneration	-	OMIM:615889
57505	AARS2	HP:0008209	Premature ovarian insufficiency	5/6	OMIM:615889
57505	AARS2	HP:0003596	Middle age onset	1/6	OMIM:615889
57505	AARS2	HP:0003593	Infantile onset	1/2	OMIM:614096
57505	AARS2	HP:0003577	Congenital onset	1/2	OMIM:614096
57505	AARS2	HP:0003557	Increased variability in muscle fiber diameter	1/2	OMIM:614096
57505	AARS2	HP:0008347	Decreased activity of mitochondrial complex IV	2/2	OMIM:614096
57505	AARS2	HP:0011968	Feeding difficulties	1/2	OMIM:614096
57505	AARS2	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1/2	OMIM:614096
57505	AARS2	HP:0003688	Cytochrome C oxidase-negative muscle fibers	2/2	OMIM:615889
57505	AARS2	HP:0002378	Hand tremor	1/6	OMIM:615889
57505	AARS2	HP:0002376	Developmental regression	6/6	OMIM:615889
57505	AARS2	HP:0002371	Loss of speech	2/6	OMIM:615889
57505	AARS2	HP:0003676	Progressive	-	OMIM:615889
57505	AARS2	HP:0002353	EEG abnormality	2/2	OMIM:614096
57505	AARS2	HP:0002352	Leukoencephalopathy	6/6	OMIM:615889
57505	AARS2	HP:0003621	Juvenile onset	1/6	OMIM:615889
57505	AARS2	HP:0000639	Nystagmus	3/6	OMIM:615889
57505	AARS2	HP:0001942	Metabolic acidosis	1/2	OMIM:614096
57505	AARS2	HP:0012664	Reduced left ventricular ejection fraction	2/2	OMIM:614096
57505	AARS2	HP:0006980	Progressive leukoencephalopathy	-	OMIM:615889
57505	AARS2	HP:0006970	Periventricular leukomalacia	6/6	OMIM:615889
57505	AARS2	HP:0006956	Lateral ventricle dilatation	2/6	OMIM:615889
57505	AARS2	HP:0000716	Depression	3/6	OMIM:615889
57505	AARS2	HP:0000726	Dementia	1/6	OMIM:615889
57505	AARS2	HP:0000709	Psychosis	1/6	OMIM:615889
57505	AARS2	HP:0011463	Childhood onset	1/6	OMIM:615889
57505	AARS2	HP:0011462	Young adult onset	3/6	OMIM:615889
57505	AARS2	HP:0003128	Lactic acidosis	1/2	OMIM:614096
57505	AARS2	HP:0001522	Death in infancy	1/2	OMIM:614096
57505	AARS2	HP:0001508	Failure to thrive	2/2	OMIM:614096
57505	AARS2	HP:0001640	Cardiomegaly	1/2	OMIM:614096
57505	AARS2	HP:0001639	Hypertrophic cardiomyopathy	2/2	OMIM:614096
57505	AARS2	HP:0001635	Congestive heart failure	1/2	OMIM:614096
57511	COG6	HP:0001290	Generalized hypotonia	3/10	OMIM:614576
57511	COG6	HP:0001272	Cerebellar atrophy	1/9	OMIM:614576
57511	COG6	HP:0001250	Seizure	2/6	OMIM:614576
57511	COG6	HP:0001249	Intellectual disability	HP:0040282	ORPHA:363523
57511	COG6	HP:0001249	Intellectual disability	-	OMIM:614576
57511	COG6	HP:0001249	Intellectual disability	-	OMIM:615328
57511	COG6	HP:0001263	Global developmental delay	7/7	OMIM:614576
57511	COG6	HP:0002536	Abnormal cortical gyration	1/6	OMIM:614576
57511	COG6	HP:0001396	Cholestasis	5/9	OMIM:614576
57511	COG6	HP:0001394	Cirrhosis	2/9	OMIM:614576
57511	COG6	HP:0001385	Hip dysplasia	1/7	OMIM:614576
57511	COG6	HP:0000007	Autosomal recessive inheritance	-	OMIM:614576
57511	COG6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615328
57511	COG6	HP:0012115	Hepatitis	HP:0040283	ORPHA:363523
57511	COG6	HP:0006297	Enamel hypoplasia	HP:0040282	ORPHA:363523
57511	COG6	HP:0006297	Enamel hypoplasia	1/3	OMIM:614576
57511	COG6	HP:0006297	Enamel hypoplasia	-	OMIM:615328
57511	COG6	HP:0000122	Unilateral renal agenesis	1/6	OMIM:614576
57511	COG6	HP:0000114	Proximal tubulopathy	1/10	OMIM:614576
57511	COG6	HP:0002719	Recurrent infections	7/7	OMIM:614576
57511	COG6	HP:0002037	Inflammation of the large intestine	1/5	OMIM:614576
57511	COG6	HP:0002028	Chronic diarrhea	3/5	OMIM:614576
57511	COG6	HP:0002079	Hypoplasia of the corpus callosum	1/6	OMIM:614576
57511	COG6	HP:0030948	Elevated gamma-glutamyltransferase level	3/9	OMIM:614576
57511	COG6	HP:0002040	Esophageal varix	1/9	OMIM:614576
57511	COG6	HP:0002059	Cerebral atrophy	2/10	OMIM:614576
57511	COG6	HP:0002119	Ventriculomegaly	1/10	OMIM:614576
57511	COG6	HP:0011840	Abnormality of T cell physiology	1/10	OMIM:614576
57511	COG6	HP:0004719	Hyperechogenic kidneys	1/6	OMIM:614576
57511	COG6	HP:0003577	Congenital onset	-	OMIM:614576
57511	COG6	HP:0003577	Congenital onset	-	OMIM:615328
57511	COG6	HP:0002240	Hepatomegaly	5/8	OMIM:614576
57511	COG6	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:363523
57511	COG6	HP:0000648	Optic atrophy	1/6	OMIM:614576
57511	COG6	HP:0001954	Recurrent fever	HP:0040282	ORPHA:363523
57511	COG6	HP:0000670	Carious teeth	HP:0040282	ORPHA:363523
57511	COG6	HP:0000670	Carious teeth	-	OMIM:615328
57511	COG6	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:363523
57511	COG6	HP:0000750	Delayed speech and language development	-	OMIM:615328
57511	COG6	HP:0003155	Elevated circulating alkaline phosphatase concentration	5/9	OMIM:614576
57511	COG6	HP:0003160	Abnormal isoelectric focusing of serum transferrin	-	ORPHA:363523
57511	COG6	HP:0003236	Elevated circulating creatine kinase concentration	3/9	OMIM:614576
57511	COG6	HP:0100259	Postaxial polydactyly	2/7	OMIM:614576
57511	COG6	HP:0000972	Palmoplantar hyperkeratosis	HP:0040282	ORPHA:363523
57511	COG6	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:615328
57511	COG6	HP:0000958	Dry skin	1/5	OMIM:614576
57511	COG6	HP:0000966	Hypohidrosis	HP:0040282	ORPHA:363523
57511	COG6	HP:0000966	Hypohidrosis	6/6	OMIM:614576
57511	COG6	HP:0000966	Hypohidrosis	-	OMIM:615328
57511	COG6	HP:0000962	Hyperkeratosis	3/5	OMIM:614576
57511	COG6	HP:0040196	Mild microcephaly	HP:0040283	ORPHA:363523
57511	COG6	HP:0000286	Epicanthus	2/10	OMIM:614576
57511	COG6	HP:0000278	Retrognathia	1/10	OMIM:614576
57511	COG6	HP:0000238	Hydrocephalus	1/6	OMIM:614576
57511	COG6	HP:0000252	Microcephaly	7/8	OMIM:614576
57511	COG6	HP:0000252	Microcephaly	HP:0040283	OMIM:615328
57511	COG6	HP:0025533	Peau d'orange	1/5	OMIM:614576
57511	COG6	HP:0001522	Death in infancy	6/10	OMIM:614576
57511	COG6	HP:0001508	Failure to thrive	3/10	OMIM:614576
57511	COG6	HP:0002848	Decreased specific anti-polysaccharide antibody level	1/10	OMIM:614576
57511	COG6	HP:0001511	Intrauterine growth retardation	-	OMIM:614576
57511	COG6	HP:0001510	Growth delay	5/7	OMIM:614576
57511	COG6	HP:0002910	Elevated circulating hepatic transaminase concentration	9/9	OMIM:614576
57511	COG6	HP:0012301	Type II transferrin isoform profile	8/9	OMIM:614576
57511	COG6	HP:0001643	Patent ductus arteriosus	2/4	OMIM:614576
57511	COG6	HP:0001629	Ventricular septal defect	1/4	OMIM:614576
57511	COG6	HP:0001631	Atrial septal defect	3/4	OMIM:614576
57511	COG6	HP:0005338	Sparse lateral eyebrow	HP:0040282	ORPHA:363523
57511	COG6	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:363523
57511	COG6	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:363523
57511	COG6	HP:0012434	Delayed early-childhood social milestone development	HP:0040282	ORPHA:363523
57511	COG6	HP:0001744	Splenomegaly	7/9	OMIM:614576
57511	COG6	HP:0005484	Secondary microcephaly	HP:0040283	ORPHA:363523
57511	COG6	HP:0001892	Abnormal bleeding	1/10	OMIM:614576
57511	COG6	HP:0001873	Thrombocytopenia	5/5	OMIM:614576
57511	COG6	HP:0001876	Pancytopenia	1/5	OMIM:614576
57514	ARHGAP31	HP:0001171	Split hand	HP:0040282	ORPHA:974
57514	ARHGAP31	HP:0001156	Brachydactyly	-	OMIM:100300
57514	ARHGAP31	HP:0001156	Brachydactyly	HP:0040282	ORPHA:974
57514	ARHGAP31	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:974
57514	ARHGAP31	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
57514	ARHGAP31	HP:0001293	Cranial nerve compression	-	OMIM:131300
57514	ARHGAP31	HP:0001290	Generalized hypotonia	-	OMIM:100300
57514	ARHGAP31	HP:0001276	Hypertonia	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0001269	Hemiparesis	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0001250	Seizure	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0001250	Seizure	-	OMIM:100300
57514	ARHGAP31	HP:0001252	Hypotonia	-	OMIM:100300
57514	ARHGAP31	HP:0001252	Hypotonia	2/7	OMIM:615777
57514	ARHGAP31	HP:0001249	Intellectual disability	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0001249	Intellectual disability	-	OMIM:100300
57514	ARHGAP31	HP:0001249	Intellectual disability	5/7	OMIM:615777
57514	ARHGAP31	HP:0001263	Global developmental delay	-	OMIM:100300
57514	ARHGAP31	HP:0001263	Global developmental delay	-	OMIM:615777
57514	ARHGAP31	HP:0002558	Supernumerary nipple	20/20	OMIM:100300
57514	ARHGAP31	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:974
57514	ARHGAP31	HP:0002539	Cortical dysplasia	-	OMIM:100300
57514	ARHGAP31	HP:0002515	Waddling gait	54/102	OMIM:131300
57514	ARHGAP31	HP:0001394	Cirrhosis	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0001382	Joint hypermobility	-	OMIM:615777
57514	ARHGAP31	HP:0002694	Sclerosis of skull base	-	OMIM:131300
57514	ARHGAP31	HP:0001362	Calvarial skull defect	-	OMIM:100300
57514	ARHGAP31	HP:0001362	Calvarial skull defect	HP:0040281	ORPHA:974
57514	ARHGAP31	HP:0008897	Postnatal growth retardation	-	OMIM:615777
57514	ARHGAP31	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
57514	ARHGAP31	HP:0001324	Muscle weakness	40/96	OMIM:131300
57514	ARHGAP31	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
57514	ARHGAP31	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
57514	ARHGAP31	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
57514	ARHGAP31	HP:0000006	Autosomal dominant inheritance	-	OMIM:100300
57514	ARHGAP31	HP:0001302	Pachygyria	-	OMIM:100300
57514	ARHGAP31	HP:0002650	Scoliosis	12/14	OMIM:131300
57514	ARHGAP31	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
57514	ARHGAP31	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
57514	ARHGAP31	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
57514	ARHGAP31	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
57514	ARHGAP31	HP:0000175	Cleft palate	-	OMIM:100300
57514	ARHGAP31	HP:0000175	Cleft palate	2/7	OMIM:615777
57514	ARHGAP31	HP:0007590	Aplasia cutis congenita over posterior parietal area	-	OMIM:100300
57514	ARHGAP31	HP:0007589	Aplasia cutis congenita on trunk or limbs	-	OMIM:100300
57514	ARHGAP31	HP:0001409	Portal hypertension	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:6000946	Transverse terminal lower limb defect	-	OMIM:100300
57514	ARHGAP31	HP:0002084	Encephalocele	-	OMIM:100300
57514	ARHGAP31	HP:0002084	Encephalocele	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0002092	Pulmonary arterial hypertension	-	OMIM:100300
57514	ARHGAP31	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:100300
57514	ARHGAP31	HP:0002040	Esophageal varix	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0003388	Easy fatigability	36/76	OMIM:131300
57514	ARHGAP31	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
57514	ARHGAP31	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:974
57514	ARHGAP31	HP:0002119	Ventriculomegaly	-	OMIM:100300
57514	ARHGAP31	HP:0002132	Porencephalic cyst	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0002126	Polymicrogyria	-	OMIM:100300
57514	ARHGAP31	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0010624	Aplastic/hypoplastic toenail	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0003510	Severe short stature	7/7	OMIM:615777
57514	ARHGAP31	HP:0001057	Aplasia cutis congenita	HP:0040281	ORPHA:974
57514	ARHGAP31	HP:0002353	EEG abnormality	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0002315	Headache	-	OMIM:131300
57514	ARHGAP31	HP:0004976	Knee dislocation	6/7	OMIM:615777
57514	ARHGAP31	HP:0009803	Short phalanx of finger	-	OMIM:615777
57514	ARHGAP31	HP:0010760	Absent toe	HP:0040281	ORPHA:974
57514	ARHGAP31	HP:0009763	Limb pain	63/92	OMIM:131300
57514	ARHGAP31	HP:0004935	Pulmonary artery atresia	HP:0040282	ORPHA:974
57514	ARHGAP31	HP:0003621	Juvenile onset	-	OMIM:131300
57514	ARHGAP31	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
57514	ARHGAP31	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
57514	ARHGAP31	HP:6001056	Out-toeing	-	OMIM:131300
57514	ARHGAP31	HP:0000651	Diplopia	-	OMIM:131300
57514	ARHGAP31	HP:0001956	Truncal obesity	2/7	OMIM:615777
57514	ARHGAP31	HP:0001903	Anemia	HP:0040283	OMIM:131300
57514	ARHGAP31	HP:0010049	Short metacarpal	-	OMIM:615777
57514	ARHGAP31	HP:0000678	Dental crowding	-	OMIM:615777
57514	ARHGAP31	HP:0000670	Carious teeth	-	OMIM:131300
57514	ARHGAP31	HP:0011304	Broad thumb	2/7	OMIM:615777
57514	ARHGAP31	HP:0000668	Hypodontia	-	OMIM:615777
57514	ARHGAP31	HP:0000664	Synophrys	-	OMIM:615777
57514	ARHGAP31	HP:0006970	Periventricular leukomalacia	-	OMIM:100300
57514	ARHGAP31	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0004383	Hypoplastic left heart	-	OMIM:100300
57514	ARHGAP31	HP:0004396	Poor appetite	-	OMIM:131300
57514	ARHGAP31	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
57514	ARHGAP31	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
57514	ARHGAP31	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
57514	ARHGAP31	HP:0003026	Short long bone	7/7	OMIM:615777
57514	ARHGAP31	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
57514	ARHGAP31	HP:0000767	Pectus excavatum	2/7	OMIM:615777
57514	ARHGAP31	HP:0000768	Pectus carinatum	1/7	OMIM:615777
57514	ARHGAP31	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
57514	ARHGAP31	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0000750	Delayed speech and language development	-	OMIM:615777
57514	ARHGAP31	HP:0011461	Fetal onset	7/7	OMIM:615777
57514	ARHGAP31	HP:0000774	Narrow chest	2/7	OMIM:615777
57514	ARHGAP31	HP:0004415	Pulmonary artery stenosis	-	OMIM:100300
57514	ARHGAP31	HP:0000926	Platyspondyly	1/7	OMIM:615777
57514	ARHGAP31	HP:0003180	Flat acetabular roof	-	OMIM:615777
57514	ARHGAP31	HP:0004482	Relative macrocephaly	-	OMIM:615777
57514	ARHGAP31	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
57514	ARHGAP31	HP:0000822	Hypertension	-	OMIM:100300
57514	ARHGAP31	HP:0000823	Delayed puberty	-	OMIM:131300
57514	ARHGAP31	HP:0000894	Short clavicles	-	OMIM:615777
57514	ARHGAP31	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
57514	ARHGAP31	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
57514	ARHGAP31	HP:0000965	Cutis marmorata	-	OMIM:100300
57514	ARHGAP31	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:974
57514	ARHGAP31	HP:0008070	Sparse hair	HP:0040281	ORPHA:974
57514	ARHGAP31	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:974
57514	ARHGAP31	HP:0000286	Epicanthus	1/7	OMIM:615777
57514	ARHGAP31	HP:0000280	Coarse facial features	2/7	OMIM:615777
57514	ARHGAP31	HP:0001596	Alopecia	-	OMIM:100300
57514	ARHGAP31	HP:0001596	Alopecia	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:974
57514	ARHGAP31	HP:0002814	Abnormality of the lower limb	HP:0040281	ORPHA:974
57514	ARHGAP31	HP:0002827	Hip dislocation	3/7	OMIM:615777
57514	ARHGAP31	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:974
57514	ARHGAP31	HP:0000252	Microcephaly	-	OMIM:100300
57514	ARHGAP31	HP:0000252	Microcephaly	-	OMIM:615777
57514	ARHGAP31	HP:0030011	Imperforate hymen	-	OMIM:100300
57514	ARHGAP31	HP:0002857	Genu valgum	-	OMIM:131300
57514	ARHGAP31	HP:0001541	Ascites	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0001533	Slender build	-	OMIM:131300
57514	ARHGAP31	HP:0000204	Cleft upper lip	-	OMIM:100300
57514	ARHGAP31	HP:0001508	Failure to thrive	HP:0040281	ORPHA:974
57514	ARHGAP31	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
57514	ARHGAP31	HP:0007807	Optic nerve compression	-	OMIM:131300
57514	ARHGAP31	HP:0012368	Flat face	7/7	OMIM:615777
57514	ARHGAP31	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
57514	ARHGAP31	HP:0000365	Hearing impairment	10/67	OMIM:131300
57514	ARHGAP31	HP:0000343	Long philtrum	1/7	OMIM:615777
57514	ARHGAP31	HP:0011001	Increased bone mineral density	-	OMIM:131300
57514	ARHGAP31	HP:0001650	Aortic valve stenosis	-	OMIM:100300
57514	ARHGAP31	HP:0001647	Bicuspid aortic valve	-	OMIM:100300
57514	ARHGAP31	HP:0000311	Round face	2/7	OMIM:615777
57514	ARHGAP31	HP:0001642	Pulmonic stenosis	-	OMIM:100300
57514	ARHGAP31	HP:0001629	Ventricular septal defect	-	OMIM:100300
57514	ARHGAP31	HP:0001622	Premature birth	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:974
57514	ARHGAP31	HP:0002970	Genu varum	-	OMIM:615777
57514	ARHGAP31	HP:0001636	Tetralogy of Fallot	-	OMIM:100300
57514	ARHGAP31	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:974
57514	ARHGAP31	HP:0001631	Atrial septal defect	-	OMIM:100300
57514	ARHGAP31	HP:0000303	Mandibular prognathia	-	OMIM:131300
57514	ARHGAP31	HP:0004050	Absent hand	HP:0040281	ORPHA:974
57514	ARHGAP31	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
57514	ARHGAP31	HP:0000486	Strabismus	HP:0040282	ORPHA:974
57514	ARHGAP31	HP:0001792	Small nail	-	OMIM:100300
57514	ARHGAP31	HP:0000470	Short neck	1/7	OMIM:615777
57514	ARHGAP31	HP:0001770	Toe syndactyly	-	OMIM:100300
57514	ARHGAP31	HP:0001769	Broad foot	HP:0040283	OMIM:615777
57514	ARHGAP31	HP:0001763	Pes planus	1/7	OMIM:615777
57514	ARHGAP31	HP:0001762	Talipes equinovarus	-	OMIM:100300
57514	ARHGAP31	HP:0000518	Cataract	HP:0040282	ORPHA:974
57514	ARHGAP31	HP:0001840	Metatarsus adductus	-	OMIM:615777
57514	ARHGAP31	HP:0000520	Proptosis	2/4	OMIM:131300
57514	ARHGAP31	HP:0000520	Proptosis	7/7	OMIM:615777
57514	ARHGAP31	HP:0001804	Hypoplastic fingernail	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0001817	Absent fingernail	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0000592	Blue sclerae	2/7	OMIM:615777
57514	ARHGAP31	HP:0000568	Microphthalmia	-	OMIM:100300
57514	ARHGAP31	HP:0000568	Microphthalmia	HP:0040282	ORPHA:974
57514	ARHGAP31	HP:0000565	Esotropia	-	OMIM:100300
57514	ARHGAP31	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
57514	ARHGAP31	HP:0001883	Talipes	HP:0040282	ORPHA:974
57514	ARHGAP31	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:974
57514	ARHGAP31	HP:0012514	Lower limb pain	4/4	OMIM:131300
57514	ARHGAP31	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:974
57520	HECW2	HP:0001298	Encephalopathy	1/1	OMIM:617268
57520	HECW2	HP:0001290	Generalized hypotonia	7/7	OMIM:617268
57520	HECW2	HP:0001250	Seizure	6/7	OMIM:617268
57520	HECW2	HP:0001252	Hypotonia	1/1	OMIM:617268
57520	HECW2	HP:0001249	Intellectual disability	4/4	OMIM:617268
57520	HECW2	HP:0001263	Global developmental delay	7/7	OMIM:617268
57520	HECW2	HP:0002500	Abnormal cerebral white matter morphology	1/1	OMIM:617268
57520	HECW2	HP:0001332	Dystonia	1/1	OMIM:617268
57520	HECW2	HP:0001344	Absent speech	1/1	OMIM:617268
57520	HECW2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617268
57520	HECW2	HP:0000179	Thick lower lip vermilion	-	OMIM:617268
57520	HECW2	HP:0000154	Wide mouth	-	OMIM:617268
57520	HECW2	HP:0002705	High, narrow palate	-	OMIM:617268
57520	HECW2	HP:0011800	Midface retrusion	-	OMIM:617268
57520	HECW2	HP:0002059	Cerebral atrophy	1/1	OMIM:617268
57520	HECW2	HP:0040288	Nasogastric tube feeding	4/7	OMIM:617268
57520	HECW2	HP:0002119	Ventriculomegaly	1/1	OMIM:617268
57520	HECW2	HP:0002197	Generalized-onset seizure	1/1	OMIM:617268
57520	HECW2	HP:0100704	Cerebral visual impairment	3/7	OMIM:617268
57520	HECW2	HP:0100716	Self-injurious behavior	2/7	OMIM:617268
57520	HECW2	HP:0002353	EEG abnormality	-	OMIM:617268
57520	HECW2	HP:0100660	Dyskinesia	1/1	OMIM:617268
57520	HECW2	HP:0000639	Nystagmus	-	OMIM:617268
57520	HECW2	HP:0031936	Delayed ability to walk	-	OMIM:617268
57520	HECW2	HP:0100023	Recurrent hand flapping	4/7	OMIM:617268
57520	HECW2	HP:0000729	Autistic behavior	2/3	OMIM:617268
57520	HECW2	HP:0045075	Sparse eyebrow	-	OMIM:617268
57520	HECW2	HP:0000938	Osteopenia	3/7	OMIM:617268
57520	HECW2	HP:0000286	Epicanthus	-	OMIM:617268
57520	HECW2	HP:0000256	Macrocephaly	1/1	OMIM:617268
57520	HECW2	HP:0000400	Macrotia	-	OMIM:617268
57520	HECW2	HP:0005280	Depressed nasal bridge	-	OMIM:617268
57520	HECW2	HP:0000486	Strabismus	3/7	OMIM:617268
57520	HECW2	HP:0000490	Deeply set eye	3/7	OMIM:617268
57520	HECW2	HP:0000463	Anteverted nares	-	OMIM:617268
57520	HECW2	HP:0000414	Bulbous nose	-	OMIM:617268
57520	HECW2	HP:0000506	Telecanthus	-	OMIM:617268
57520	HECW2	HP:0000508	Ptosis	2/7	OMIM:617268
57520	HECW2	HP:0011220	Prominent forehead	-	OMIM:617268
57520	HECW2	HP:0000574	Thick eyebrow	-	OMIM:617268
57522	SRGAP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:188470
57522	SRGAP1	HP:0001442	Typified by somatic mosaicism	-	OMIM:188470
57522	SRGAP1	HP:0040198	Non-medullary thyroid carcinoma	-	OMIM:188470
57522	SRGAP1	HP:0002895	Papillary thyroid carcinoma	-	OMIM:188470
57522	SRGAP1	HP:0006731	Follicular thyroid carcinoma	-	OMIM:188470
57526	PCDH19	HP:0025101	Dysgenesis of the hippocampus	HP:0040283	ORPHA:33069
57526	PCDH19	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2/3	OMIM:300088
57526	PCDH19	HP:0007270	Atypical absence seizure	HP:0040283	ORPHA:101039
57526	PCDH19	HP:0007270	Atypical absence seizure	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0007240	Progressive gait ataxia	HP:0040281	ORPHA:33069
57526	PCDH19	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:101039
57526	PCDH19	HP:0001270	Motor delay	HP:0040282	ORPHA:101039
57526	PCDH19	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:101039
57526	PCDH19	HP:0001249	Intellectual disability	HP:0040282	ORPHA:101039
57526	PCDH19	HP:0001249	Intellectual disability	HP:0040282	OMIM:300088
57526	PCDH19	HP:0001263	Global developmental delay	HP:0040283	ORPHA:101039
57526	PCDH19	HP:0001263	Global developmental delay	HP:0040282	OMIM:300088
57526	PCDH19	HP:0008770	Obsessive-compulsive trait	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:101039
57526	PCDH19	HP:0007359	Focal-onset seizure	-	OMIM:300088
57526	PCDH19	HP:0007359	Focal-onset seizure	HP:0040281	ORPHA:33069
57526	PCDH19	HP:0001327	Photosensitive myoclonic seizure	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0001336	Myoclonus	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0001300	Parkinsonism	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0008947	Floppy infant	HP:0040283	ORPHA:33069
57526	PCDH19	HP:0001417	X-linked inheritance	-	OMIM:300088
57526	PCDH19	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:101039
57526	PCDH19	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:300088
57526	PCDH19	HP:0002067	Bradykinesia	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0002063	Rigidity	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:101039
57526	PCDH19	HP:0002123	Generalized myoclonic seizure	-	OMIM:300088
57526	PCDH19	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:101039
57526	PCDH19	HP:0002121	Generalized non-motor (absence) seizure	-	OMIM:300088
57526	PCDH19	HP:0002119	Ventriculomegaly	1/3	OMIM:300088
57526	PCDH19	HP:0002133	Status epilepticus	HP:0040282	ORPHA:101039
57526	PCDH19	HP:0002133	Status epilepticus	-	OMIM:300088
57526	PCDH19	HP:0002187	Intellectual disability, profound	HP:0040283	ORPHA:101039
57526	PCDH19	HP:0003593	Infantile onset	1/3	OMIM:300088
57526	PCDH19	HP:0100710	Impulsivity	HP:0040283	ORPHA:101039
57526	PCDH19	HP:0100710	Impulsivity	HP:0040283	ORPHA:33069
57526	PCDH19	HP:0100738	Abnormal eating behavior	HP:0040284	ORPHA:101039
57526	PCDH19	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:33069
57526	PCDH19	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:33069
57526	PCDH19	HP:0007018	Attention deficit hyperactivity disorder	1/3	OMIM:300088
57526	PCDH19	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0002396	Cogwheel rigidity	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0002376	Developmental regression	-	OMIM:300088
57526	PCDH19	HP:0002376	Developmental regression	HP:0040281	ORPHA:33069
57526	PCDH19	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040281	ORPHA:101039
57526	PCDH19	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0002345	Action tremor	HP:0040283	ORPHA:33069
57526	PCDH19	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:101039
57526	PCDH19	HP:0002342	Intellectual disability, moderate	1/3	OMIM:300088
57526	PCDH19	HP:0002349	Focal aware seizure	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0010841	Multifocal epileptiform discharges	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0007207	Photosensitive tonic-clonic seizure	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0010819	Atonic seizure	HP:0040283	ORPHA:101039
57526	PCDH19	HP:0010819	Atonic seizure	1/3	OMIM:300088
57526	PCDH19	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:101039
57526	PCDH19	HP:0010818	Generalized tonic seizure	HP:0040284	ORPHA:33069
57526	PCDH19	HP:0200048	Cyanotic episode	HP:0040283	ORPHA:33069
57526	PCDH19	HP:0100694	Tibial torsion	HP:0040283	ORPHA:33069
57526	PCDH19	HP:0002311	Incoordination	HP:0040283	ORPHA:33069
57526	PCDH19	HP:0002307	Drooling	HP:0040283	ORPHA:33069
57526	PCDH19	HP:0006813	Focal hemiclonic seizure	2/3	OMIM:300088
57526	PCDH19	HP:0006813	Focal hemiclonic seizure	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0003066	Limited knee extension	HP:0040283	ORPHA:33069
57526	PCDH19	HP:0000752	Hyperactivity	HP:0040283	ORPHA:101039
57526	PCDH19	HP:0000739	Anxiety	HP:0040282	ORPHA:101039
57526	PCDH19	HP:0000739	Anxiety	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0000736	Short attention span	HP:0040283	ORPHA:33069
57526	PCDH19	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:101039
57526	PCDH19	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:101039
57526	PCDH19	HP:0000718	Aggressive behavior	-	OMIM:300088
57526	PCDH19	HP:0000729	Autistic behavior	HP:0040283	ORPHA:101039
57526	PCDH19	HP:0000729	Autistic behavior	1/3	OMIM:300088
57526	PCDH19	HP:0000729	Autistic behavior	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:101039
57526	PCDH19	HP:0000709	Psychosis	HP:0040284	ORPHA:101039
57526	PCDH19	HP:0000709	Psychosis	-	OMIM:300088
57526	PCDH19	HP:0000708	Atypical behavior	HP:0040282	ORPHA:101039
57526	PCDH19	HP:0011468	Facial tics	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0011463	Childhood onset	2/3	OMIM:300088
57526	PCDH19	HP:0012847	Epilepsia partialis continua	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0000980	Pallor	HP:0040283	ORPHA:33069
57526	PCDH19	HP:0008081	Pes valgus	HP:0040283	ORPHA:33069
57526	PCDH19	HP:0032660	Convulsive status epilepticus	1/3	OMIM:300088
57526	PCDH19	HP:0032810	Focal sensory seizure with cephalic sensation	1/3	OMIM:300088
57526	PCDH19	HP:0031475	Status epilepticus without prominent motor symptoms	HP:0040283	ORPHA:33069
57526	PCDH19	HP:0011198	EEG with generalized epileptiform discharges	HP:0040283	ORPHA:33069
57526	PCDH19	HP:0011185	EEG with focal epileptiform discharges	HP:0040283	ORPHA:33069
57526	PCDH19	HP:0011182	Interictal epileptiform activity	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0011169	Generalized clonic seizure	HP:0040282	ORPHA:101039
57526	PCDH19	HP:0011169	Generalized clonic seizure	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0011172	Complex febrile seizure	HP:0040283	ORPHA:101039
57526	PCDH19	HP:0011172	Complex febrile seizure	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0012433	Abnormal social behavior	HP:0040282	ORPHA:101039
57526	PCDH19	HP:0000466	Limited neck range of motion	HP:0040282	ORPHA:33069
57526	PCDH19	HP:0001763	Pes planus	HP:0040283	ORPHA:33069
57531	HACE1	HP:0001290	Generalized hypotonia	-	OMIM:616756
57531	HACE1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:464282
57531	HACE1	HP:0001250	Seizure	HP:0040281	ORPHA:464282
57531	HACE1	HP:0001250	Seizure	5/8	OMIM:616756
57531	HACE1	HP:0001252	Hypotonia	-	OMIM:616756
57531	HACE1	HP:0001251	Ataxia	HP:0040282	ORPHA:464282
57531	HACE1	HP:0001251	Ataxia	-	OMIM:616756
57531	HACE1	HP:0001251	Ataxia	HP:0040284	ORPHA:635
57531	HACE1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:464282
57531	HACE1	HP:0001249	Intellectual disability	-	OMIM:616756
57531	HACE1	HP:0001260	Dysarthria	HP:0040282	ORPHA:464282
57531	HACE1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:464282
57531	HACE1	HP:0001263	Global developmental delay	-	OMIM:616756
57531	HACE1	HP:0001257	Spasticity	HP:0040282	ORPHA:464282
57531	HACE1	HP:0031087	Absent pubertal growth spurt	HP:0040282	ORPHA:464282
57531	HACE1	HP:0002540	Inability to walk	HP:0040283	OMIM:616756
57531	HACE1	HP:0002515	Waddling gait	HP:0040282	ORPHA:464282
57531	HACE1	HP:0002515	Waddling gait	3/8	OMIM:616756
57531	HACE1	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:464282
57531	HACE1	HP:0025313	Exophoria	HP:0040282	ORPHA:464282
57531	HACE1	HP:0001332	Dystonia	HP:0040282	ORPHA:464282
57531	HACE1	HP:0001332	Dystonia	HP:0040283	OMIM:616756
57531	HACE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616756
57531	HACE1	HP:0001336	Myoclonus	HP:0040284	ORPHA:635
57531	HACE1	HP:0002653	Bone pain	HP:0040283	ORPHA:635
57531	HACE1	HP:0002650	Scoliosis	HP:0040282	ORPHA:464282
57531	HACE1	HP:0002650	Scoliosis	HP:0040283	OMIM:616756
57531	HACE1	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:635
57531	HACE1	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:635
57531	HACE1	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:464282
57531	HACE1	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:635
57531	HACE1	HP:0001437	Abnormality of the musculature of the lower limbs	-	ORPHA:464282
57531	HACE1	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:635
57531	HACE1	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:464282
57531	HACE1	HP:0002028	Chronic diarrhea	HP:0040282	ORPHA:635
57531	HACE1	HP:0003334	Elevated circulating catecholamine level	HP:0040282	ORPHA:635
57531	HACE1	HP:0002098	Respiratory distress	HP:0040283	ORPHA:635
57531	HACE1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:464282
57531	HACE1	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:464282
57531	HACE1	HP:0002061	Lower limb spasticity	6/8	OMIM:616756
57531	HACE1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:464282
57531	HACE1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	OMIM:616756
57531	HACE1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:464282
57531	HACE1	HP:0002059	Cerebral atrophy	-	OMIM:616756
57531	HACE1	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:464282
57531	HACE1	HP:0002123	Generalized myoclonic seizure	HP:0040283	OMIM:616756
57531	HACE1	HP:0002136	Broad-based gait	-	OMIM:616756
57531	HACE1	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:635
57531	HACE1	HP:0010543	Opsoclonus	HP:0040284	ORPHA:635
57531	HACE1	HP:0002277	Horner syndrome	HP:0040283	ORPHA:635
57531	HACE1	HP:0008373	Puberty and gonadal disorders	HP:0040283	ORPHA:464282
57531	HACE1	HP:0007020	Progressive spastic paraplegia	HP:0040281	ORPHA:464282
57531	HACE1	HP:0011976	Elevated urinary catecholamine level	HP:0040281	ORPHA:635
57531	HACE1	HP:0011977	Elevated urinary homovanillic acid	HP:0040283	ORPHA:635
57531	HACE1	HP:0011978	Elevated urinary vanillylmandelic acid	HP:0040283	ORPHA:635
57531	HACE1	HP:0002380	Fasciculations	-	ORPHA:464282
57531	HACE1	HP:0002376	Developmental regression	-	OMIM:616756
57531	HACE1	HP:0001017	Anemic pallor	HP:0040283	ORPHA:635
57531	HACE1	HP:0002317	Unsteady gait	HP:0040282	ORPHA:464282
57531	HACE1	HP:0001945	Fever	HP:0040282	ORPHA:635
57531	HACE1	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:635
57531	HACE1	HP:0001903	Anemia	HP:0040282	ORPHA:635
57531	HACE1	HP:0004322	Short stature	HP:0040283	ORPHA:464282
57531	HACE1	HP:0004322	Short stature	HP:0040283	OMIM:616756
57531	HACE1	HP:0031955	Antalgic gait	HP:0040283	ORPHA:635
57531	HACE1	HP:0004375	Neoplasm of the nervous system	HP:0040281	ORPHA:635
57531	HACE1	HP:0003006	Neuroblastoma	HP:0040281	ORPHA:635
57531	HACE1	HP:0011401	Delayed peripheral myelination	HP:0040283	ORPHA:464282
57531	HACE1	HP:0000737	Irritability	HP:0040283	ORPHA:635
57531	HACE1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:464282
57531	HACE1	HP:0012762	Cerebral white matter atrophy	HP:0040283	ORPHA:464282
57531	HACE1	HP:0000822	Hypertension	HP:0040284	ORPHA:635
57531	HACE1	HP:0010219	Structural foot deformity	HP:0040283	ORPHA:464282
57531	HACE1	HP:0003270	Abdominal distention	HP:0040282	ORPHA:635
57531	HACE1	HP:0003281	Increased circulating ferritin concentration	HP:0040283	ORPHA:635
57531	HACE1	HP:0025553	Periorbital ecchymosis with tarsal plate sparing	HP:0040284	ORPHA:635
57531	HACE1	HP:0002827	Hip dislocation	HP:0040282	ORPHA:464282
57531	HACE1	HP:0002827	Hip dislocation	HP:0040283	OMIM:616756
57531	HACE1	HP:0002808	Kyphosis	HP:0040282	ORPHA:464282
57531	HACE1	HP:0002808	Kyphosis	HP:0040283	OMIM:616756
57531	HACE1	HP:0000252	Microcephaly	HP:0040283	ORPHA:464282
57531	HACE1	HP:0000252	Microcephaly	HP:0040283	OMIM:616756
57531	HACE1	HP:0001513	Obesity	HP:0040283	ORPHA:464282
57531	HACE1	HP:0001513	Obesity	HP:0040283	OMIM:616756
57531	HACE1	HP:0031500	Abdominal mass	HP:0040282	ORPHA:635
57531	HACE1	HP:0012378	Fatigue	HP:0040282	ORPHA:635
57531	HACE1	HP:0002938	Lumbar hyperlordosis	-	OMIM:616756
57531	HACE1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:464282
57531	HACE1	HP:0011166	Focal myoclonic seizure	HP:0040283	ORPHA:464282
57531	HACE1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:464282
57531	HACE1	HP:0000407	Sensorineural hearing impairment	3/8	OMIM:616756
57531	HACE1	HP:0000486	Strabismus	-	OMIM:616756
57531	HACE1	HP:0000490	Deeply set eye	HP:0040282	ORPHA:464282
57531	HACE1	HP:0012448	Delayed myelination	HP:0040283	OMIM:616756
57531	HACE1	HP:0001762	Talipes equinovarus	2/8	OMIM:616756
57531	HACE1	HP:0000520	Proptosis	HP:0040283	ORPHA:635
57531	HACE1	HP:0001824	Weight loss	HP:0040282	ORPHA:635
57531	HACE1	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:635
57531	HACE1	HP:0000556	Retinal dystrophy	HP:0040282	ORPHA:464282
57531	HACE1	HP:0000556	Retinal dystrophy	-	OMIM:616756
57531	HACE1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:635
57531	HACE1	HP:0000545	Myopia	HP:0040282	ORPHA:464282
57531	HACE1	HP:0000545	Myopia	HP:0040283	OMIM:616756
57534	MIB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615092
57534	MIB1	HP:0030682	Left ventricular noncompaction	-	OMIM:615092
57534	MIB1	HP:0011664	Left ventricular noncompaction cardiomyopathy	-	OMIM:615092
57538	ALPK3	HP:0025168	Left ventricular diastolic dysfunction	1/5	OMIM:618052
57538	ALPK3	HP:0000007	Autosomal recessive inheritance	-	OMIM:618052
57538	ALPK3	HP:0002119	Ventriculomegaly	1/5	OMIM:618052
57538	ALPK3	HP:0003593	Infantile onset	2/2	OMIM:618052
57538	ALPK3	HP:0003577	Congenital onset	2/5	OMIM:618052
57538	ALPK3	HP:0001059	Pterygium	2/2	OMIM:618052
57538	ALPK3	HP:0034197	Third trimester onset	1/5	OMIM:618052
57538	ALPK3	HP:0034198	Second trimester onset	1/5	OMIM:618052
57538	ALPK3	HP:0011463	Childhood onset	1/5	OMIM:618052
57538	ALPK3	HP:0005144	Ventricular septal hypertrophy	3/7	OMIM:618052
57538	ALPK3	HP:0031319	Cardiomyocyte hypertrophy	1/5	OMIM:618052
57538	ALPK3	HP:0005180	Tricuspid regurgitation	2/5	OMIM:618052
57538	ALPK3	HP:0005157	Concentric hypertrophic cardiomyopathy	2/5	OMIM:618052
57538	ALPK3	HP:0001695	Cardiac arrest	1/5	OMIM:618052
57538	ALPK3	HP:0001667	Right ventricular hypertrophy	1/5	OMIM:618052
57538	ALPK3	HP:0001657	Prolonged QT interval	1/1	OMIM:618052
57538	ALPK3	HP:0001653	Mitral regurgitation	1/5	OMIM:618052
57538	ALPK3	HP:0001640	Cardiomegaly	3/5	OMIM:618052
57538	ALPK3	HP:0001639	Hypertrophic cardiomyopathy	3/7	OMIM:618052
57538	ALPK3	HP:0001635	Congestive heart failure	1/5	OMIM:618052
57538	ALPK3	HP:0006670	Impaired myocardial contractility	2/5	OMIM:618052
57538	ALPK3	HP:0001706	Endocardial fibroelastosis	1/1	OMIM:618052
57538	ALPK3	HP:0001790	Nonimmune hydrops fetalis	2/5	OMIM:618052
57539	WDR35	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:93271
57539	WDR35	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1515
57539	WDR35	HP:0001156	Brachydactyly	-	OMIM:614091
57539	WDR35	HP:0001156	Brachydactyly	2/2	OMIM:613610
57539	WDR35	HP:0001162	Postaxial hand polydactyly	-	OMIM:613610
57539	WDR35	HP:0001162	Postaxial hand polydactyly	HP:0040282	ORPHA:93271
57539	WDR35	HP:0001159	Syndactyly	2/2	OMIM:613610
57539	WDR35	HP:0001159	Syndactyly	-	OMIM:614091
57539	WDR35	HP:0020206	Simple ear	2/2	OMIM:613610
57539	WDR35	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:1515
57539	WDR35	HP:0009882	Short distal phalanx of finger	-	OMIM:614091
57539	WDR35	HP:0003762	Uterus didelphys	HP:0040282	ORPHA:93271
57539	WDR35	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
57539	WDR35	HP:0001293	Cranial nerve compression	-	OMIM:131300
57539	WDR35	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93271
57539	WDR35	HP:0001252	Hypotonia	2/7	OMIM:615777
57539	WDR35	HP:0001249	Intellectual disability	0/2	OMIM:613610
57539	WDR35	HP:0001249	Intellectual disability	5/7	OMIM:615777
57539	WDR35	HP:0001263	Global developmental delay	HP:0040284	OMIM:613610
57539	WDR35	HP:0001263	Global developmental delay	-	OMIM:615777
57539	WDR35	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1515
57539	WDR35	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:1515
57539	WDR35	HP:0100840	Aplasia/Hypoplasia of the eyebrow	-	OMIM:614091
57539	WDR35	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:93271
57539	WDR35	HP:0008716	Urethrovaginal fistula	HP:0040282	ORPHA:93271
57539	WDR35	HP:0002515	Waddling gait	54/102	OMIM:131300
57539	WDR35	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:93271
57539	WDR35	HP:0000089	Renal hypoplasia	-	OMIM:614091
57539	WDR35	HP:0000083	Renal insufficiency	-	OMIM:613610
57539	WDR35	HP:0001396	Cholestasis	-	OMIM:613610
57539	WDR35	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:93271
57539	WDR35	HP:0001395	Hepatic fibrosis	-	OMIM:614091
57539	WDR35	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1515
57539	WDR35	HP:0001382	Joint hypermobility	-	OMIM:613610
57539	WDR35	HP:0001382	Joint hypermobility	-	OMIM:615777
57539	WDR35	HP:0000047	Hypospadias	-	OMIM:614091
57539	WDR35	HP:0000023	Inguinal hernia	2/2	OMIM:613610
57539	WDR35	HP:0002676	Cloverleaf skull	-	OMIM:613610
57539	WDR35	HP:0001363	Craniosynostosis	2/2	OMIM:613610
57539	WDR35	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:1515
57539	WDR35	HP:0002694	Sclerosis of skull base	-	OMIM:131300
57539	WDR35	HP:0001357	Plagiocephaly	-	OMIM:613610
57539	WDR35	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:93271
57539	WDR35	HP:0008897	Postnatal growth retardation	-	OMIM:615777
57539	WDR35	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:93271
57539	WDR35	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
57539	WDR35	HP:0001324	Muscle weakness	40/96	OMIM:131300
57539	WDR35	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
57539	WDR35	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
57539	WDR35	HP:0000007	Autosomal recessive inheritance	-	OMIM:613610
57539	WDR35	HP:0000007	Autosomal recessive inheritance	-	OMIM:614091
57539	WDR35	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
57539	WDR35	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:93271
57539	WDR35	HP:0002650	Scoliosis	12/14	OMIM:131300
57539	WDR35	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:93271
57539	WDR35	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
57539	WDR35	HP:0002612	Congenital hepatic fibrosis	HP:0040282	ORPHA:93271
57539	WDR35	HP:0002613	Biliary cirrhosis	-	OMIM:613610
57539	WDR35	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
57539	WDR35	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
57539	WDR35	HP:0008905	Rhizomelia	2/2	OMIM:613610
57539	WDR35	HP:0008905	Rhizomelia	HP:0040281	ORPHA:1515
57539	WDR35	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
57539	WDR35	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:1515
57539	WDR35	HP:0000175	Cleft palate	-	OMIM:614091
57539	WDR35	HP:0000175	Cleft palate	HP:0040284	OMIM:613610
57539	WDR35	HP:0000175	Cleft palate	2/7	OMIM:615777
57539	WDR35	HP:0007687	Unilateral ptosis	1/2	OMIM:613610
57539	WDR35	HP:0006349	Agenesis of permanent teeth	-	OMIM:614091
57539	WDR35	HP:0000113	Polycystic kidney dysplasia	-	OMIM:614091
57539	WDR35	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:93271
57539	WDR35	HP:0000107	Renal cyst	-	OMIM:613610
57539	WDR35	HP:0000107	Renal cyst	HP:0040283	ORPHA:93271
57539	WDR35	HP:0000107	Renal cyst	-	OMIM:614091
57539	WDR35	HP:0001408	Bile duct proliferation	-	OMIM:613610
57539	WDR35	HP:0002023	Anal atresia	HP:0040283	ORPHA:93271
57539	WDR35	HP:0002032	Esophageal atresia	HP:0040283	ORPHA:93271
57539	WDR35	HP:0002007	Frontal bossing	HP:0040281	ORPHA:1515
57539	WDR35	HP:0002007	Frontal bossing	2/2	OMIM:613610
57539	WDR35	HP:0002007	Frontal bossing	HP:0040282	ORPHA:93271
57539	WDR35	HP:0002006	Tessier cleft	HP:0040283	ORPHA:93271
57539	WDR35	HP:0011800	Midface retrusion	-	OMIM:613610
57539	WDR35	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:93271
57539	WDR35	HP:0002089	Pulmonary hypoplasia	-	OMIM:614091
57539	WDR35	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:93271
57539	WDR35	HP:0003388	Easy fatigability	36/76	OMIM:131300
57539	WDR35	HP:0010442	Polydactyly	-	OMIM:613610
57539	WDR35	HP:0010442	Polydactyly	-	OMIM:614091
57539	WDR35	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
57539	WDR35	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:93271
57539	WDR35	HP:0002164	Nail dysplasia	-	OMIM:614091
57539	WDR35	HP:0010564	Bifid epiglottis	HP:0040283	ORPHA:93271
57539	WDR35	HP:0003577	Congenital onset	2/2	OMIM:613610
57539	WDR35	HP:0002240	Hepatomegaly	-	OMIM:613610
57539	WDR35	HP:0002213	Fine hair	-	OMIM:614091
57539	WDR35	HP:0003510	Severe short stature	7/7	OMIM:615777
57539	WDR35	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:1515
57539	WDR35	HP:0002315	Headache	-	OMIM:131300
57539	WDR35	HP:0004976	Knee dislocation	6/7	OMIM:615777
57539	WDR35	HP:0010812	Short uvula	-	OMIM:614091
57539	WDR35	HP:0009803	Short phalanx of finger	-	OMIM:615777
57539	WDR35	HP:0008499	High hypermetropia	HP:0040283	ORPHA:1515
57539	WDR35	HP:0009763	Limb pain	63/92	OMIM:131300
57539	WDR35	HP:0003621	Juvenile onset	-	OMIM:131300
57539	WDR35	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
57539	WDR35	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:1515
57539	WDR35	HP:0004279	Short palm	HP:0040281	ORPHA:93271
57539	WDR35	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
57539	WDR35	HP:0000639	Nystagmus	0/2	OMIM:613610
57539	WDR35	HP:0000639	Nystagmus	HP:0040283	ORPHA:1515
57539	WDR35	HP:6001056	Out-toeing	-	OMIM:131300
57539	WDR35	HP:0000651	Diplopia	-	OMIM:131300
57539	WDR35	HP:0001956	Truncal obesity	2/7	OMIM:615777
57539	WDR35	HP:0000601	Hypotelorism	HP:0040282	ORPHA:1515
57539	WDR35	HP:0001903	Anemia	HP:0040283	OMIM:131300
57539	WDR35	HP:0010049	Short metacarpal	-	OMIM:615777
57539	WDR35	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:1515
57539	WDR35	HP:0000679	Taurodontia	HP:0040283	ORPHA:1515
57539	WDR35	HP:0000678	Dental crowding	-	OMIM:615777
57539	WDR35	HP:0000691	Microdontia	2/2	OMIM:613610
57539	WDR35	HP:0000691	Microdontia	HP:0040281	ORPHA:1515
57539	WDR35	HP:0000691	Microdontia	-	OMIM:614091
57539	WDR35	HP:0011330	Metopic synostosis	-	OMIM:613610
57539	WDR35	HP:0000687	Widely spaced teeth	2/2	OMIM:613610
57539	WDR35	HP:0000653	Sparse eyelashes	-	OMIM:613610
57539	WDR35	HP:0000670	Carious teeth	-	OMIM:131300
57539	WDR35	HP:0011304	Broad thumb	2/7	OMIM:615777
57539	WDR35	HP:0000668	Hypodontia	HP:0040282	ORPHA:1515
57539	WDR35	HP:0000668	Hypodontia	-	OMIM:615777
57539	WDR35	HP:0000664	Synophrys	-	OMIM:615777
57539	WDR35	HP:0004322	Short stature	-	OMIM:613610
57539	WDR35	HP:0004322	Short stature	-	OMIM:614091
57539	WDR35	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:93271
57539	WDR35	HP:0004397	Ectopic anus	HP:0040283	ORPHA:93271
57539	WDR35	HP:0004396	Poor appetite	-	OMIM:131300
57539	WDR35	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
57539	WDR35	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
57539	WDR35	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
57539	WDR35	HP:0003026	Short long bone	7/7	OMIM:615777
57539	WDR35	HP:0003026	Short long bone	-	OMIM:614091
57539	WDR35	HP:0003027	Mesomelia	-	OMIM:613610
57539	WDR35	HP:0003027	Mesomelia	-	OMIM:614091
57539	WDR35	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
57539	WDR35	HP:0009106	Abnormal pelvis bone ossification	HP:0040281	ORPHA:93271
57539	WDR35	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:1515
57539	WDR35	HP:0000767	Pectus excavatum	2/2	OMIM:613610
57539	WDR35	HP:0000767	Pectus excavatum	2/7	OMIM:615777
57539	WDR35	HP:0000768	Pectus carinatum	1/7	OMIM:615777
57539	WDR35	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
57539	WDR35	HP:0000750	Delayed speech and language development	-	OMIM:615777
57539	WDR35	HP:0011461	Fetal onset	7/7	OMIM:615777
57539	WDR35	HP:0000774	Narrow chest	2/2	OMIM:613610
57539	WDR35	HP:0000774	Narrow chest	HP:0040281	ORPHA:93271
57539	WDR35	HP:0000774	Narrow chest	HP:0040281	ORPHA:1515
57539	WDR35	HP:0000774	Narrow chest	-	OMIM:614091
57539	WDR35	HP:0000774	Narrow chest	2/7	OMIM:615777
57539	WDR35	HP:0000773	Short ribs	-	OMIM:613610
57539	WDR35	HP:0000773	Short ribs	HP:0040281	ORPHA:93271
57539	WDR35	HP:0000773	Short ribs	-	OMIM:614091
57539	WDR35	HP:0005716	Lethal skeletal dysplasia	HP:0040281	ORPHA:93271
57539	WDR35	HP:0000926	Platyspondyly	1/7	OMIM:615777
57539	WDR35	HP:0003180	Flat acetabular roof	-	OMIM:615777
57539	WDR35	HP:0003180	Flat acetabular roof	-	OMIM:614091
57539	WDR35	HP:0004482	Relative macrocephaly	-	OMIM:615777
57539	WDR35	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
57539	WDR35	HP:0000882	Hypoplastic scapulae	-	OMIM:614091
57539	WDR35	HP:0000888	Horizontal ribs	-	OMIM:613610
57539	WDR35	HP:0000822	Hypertension	-	OMIM:613610
57539	WDR35	HP:0000823	Delayed puberty	-	OMIM:131300
57539	WDR35	HP:0010297	Bifid tongue	HP:0040283	ORPHA:93271
57539	WDR35	HP:0000894	Short clavicles	-	OMIM:615777
57539	WDR35	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
57539	WDR35	HP:0003270	Abdominal distention	HP:0040281	ORPHA:93271
57539	WDR35	HP:0045075	Sparse eyebrow	-	OMIM:613610
57539	WDR35	HP:0004599	Absent or minimally ossified vertebral bodies	HP:0040282	ORPHA:93271
57539	WDR35	HP:0100259	Postaxial polydactyly	-	OMIM:614091
57539	WDR35	HP:0010306	Short thorax	HP:0040281	ORPHA:93271
57539	WDR35	HP:0000973	Cutis laxa	-	OMIM:613610
57539	WDR35	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
57539	WDR35	HP:0000968	Ectodermal dysplasia	-	OMIM:613610
57539	WDR35	HP:0000939	Osteoporosis	HP:0040281	ORPHA:1515
57539	WDR35	HP:0045025	Narrow palpebral fissure	2/2	OMIM:613610
57539	WDR35	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:93271
57539	WDR35	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1515
57539	WDR35	HP:0000940	Abnormal diaphysis morphology	HP:0040281	ORPHA:1515
57539	WDR35	HP:0008070	Sparse hair	1/2	OMIM:613610
57539	WDR35	HP:0008070	Sparse hair	HP:0040281	ORPHA:1515
57539	WDR35	HP:0008070	Sparse hair	-	OMIM:614091
57539	WDR35	HP:0000286	Epicanthus	-	OMIM:613610
57539	WDR35	HP:0000286	Epicanthus	HP:0040282	ORPHA:93271
57539	WDR35	HP:0000286	Epicanthus	HP:0040281	ORPHA:1515
57539	WDR35	HP:0000286	Epicanthus	-	OMIM:614091
57539	WDR35	HP:0000286	Epicanthus	1/7	OMIM:615777
57539	WDR35	HP:0000280	Coarse facial features	2/7	OMIM:615777
57539	WDR35	HP:0000278	Retrognathia	-	OMIM:613610
57539	WDR35	HP:0000293	Full cheeks	-	OMIM:613610
57539	WDR35	HP:0000289	Broad philtrum	-	OMIM:613610
57539	WDR35	HP:0000256	Macrocephaly	1/2	OMIM:613610
57539	WDR35	HP:0000256	Macrocephaly	HP:0040282	ORPHA:93271
57539	WDR35	HP:0000268	Dolichocephaly	2/2	OMIM:613610
57539	WDR35	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:1515
57539	WDR35	HP:0000268	Dolichocephaly	-	OMIM:614091
57539	WDR35	HP:0000269	Prominent occiput	HP:0040281	ORPHA:1515
57539	WDR35	HP:0002827	Hip dislocation	3/7	OMIM:615777
57539	WDR35	HP:0030084	Clinodactyly	-	OMIM:613610
57539	WDR35	HP:0000252	Microcephaly	-	OMIM:615777
57539	WDR35	HP:0000218	High palate	-	OMIM:613610
57539	WDR35	HP:0000218	High palate	-	OMIM:614091
57539	WDR35	HP:0001561	Polyhydramnios	-	OMIM:613610
57539	WDR35	HP:0000232	Everted lower lip vermilion	2/2	OMIM:613610
57539	WDR35	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:1515
57539	WDR35	HP:0000200	Short lingual frenulum	-	OMIM:614091
57539	WDR35	HP:0002857	Genu valgum	-	OMIM:131300
57539	WDR35	HP:0001541	Ascites	-	OMIM:614091
57539	WDR35	HP:0001539	Omphalocele	HP:0040283	ORPHA:93271
57539	WDR35	HP:0001533	Slender build	-	OMIM:131300
57539	WDR35	HP:0000204	Cleft upper lip	HP:0040282	ORPHA:93271
57539	WDR35	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
57539	WDR35	HP:0011090	Fused teeth	-	OMIM:614091
57539	WDR35	HP:0011090	Fused teeth	2/2	OMIM:613610
57539	WDR35	HP:0007807	Optic nerve compression	-	OMIM:131300
57539	WDR35	HP:0012368	Flat face	7/7	OMIM:615777
57539	WDR35	HP:0006580	Portal fibrosis	-	OMIM:613610
57539	WDR35	HP:0006532	Recurrent pneumonia	1/2	OMIM:613610
57539	WDR35	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
57539	WDR35	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:613610
57539	WDR35	HP:0002904	Hyperbilirubinemia	-	OMIM:613610
57539	WDR35	HP:0006487	Bowing of the long bones	-	OMIM:614091
57539	WDR35	HP:0000365	Hearing impairment	10/67	OMIM:131300
57539	WDR35	HP:0000369	Low-set ears	2/2	OMIM:613610
57539	WDR35	HP:0000341	Narrow forehead	-	OMIM:613610
57539	WDR35	HP:0000343	Long philtrum	HP:0040282	ORPHA:93271
57539	WDR35	HP:0000343	Long philtrum	1/7	OMIM:615777
57539	WDR35	HP:0011001	Increased bone mineral density	-	OMIM:131300
57539	WDR35	HP:0000348	High forehead	-	OMIM:613610
57539	WDR35	HP:0000347	Micrognathia	1/2	OMIM:613610
57539	WDR35	HP:0000347	Micrognathia	HP:0040282	ORPHA:93271
57539	WDR35	HP:0002983	Micromelia	HP:0040281	ORPHA:93271
57539	WDR35	HP:0002983	Micromelia	-	OMIM:614091
57539	WDR35	HP:0000319	Smooth philtrum	-	OMIM:613610
57539	WDR35	HP:0000316	Hypertelorism	2/2	OMIM:613610
57539	WDR35	HP:0001643	Patent ductus arteriosus	-	OMIM:613610
57539	WDR35	HP:0000311	Round face	2/7	OMIM:615777
57539	WDR35	HP:0030151	Cholangitis	-	OMIM:613610
57539	WDR35	HP:0001655	Patent foramen ovale	-	OMIM:613610
57539	WDR35	HP:0002970	Genu varum	-	OMIM:615777
57539	WDR35	HP:0001631	Atrial septal defect	-	OMIM:613610
57539	WDR35	HP:0000303	Mandibular prognathia	-	OMIM:131300
57539	WDR35	HP:0006644	Thoracic dysplasia	-	OMIM:614091
57539	WDR35	HP:0001712	Left ventricular hypertrophy	-	OMIM:613610
57539	WDR35	HP:0005280	Depressed nasal bridge	-	OMIM:613610
57539	WDR35	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:93271
57539	WDR35	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
57539	WDR35	HP:0000486	Strabismus	1/2	OMIM:613610
57539	WDR35	HP:0000476	Cystic hygroma	-	OMIM:613610
57539	WDR35	HP:0000476	Cystic hygroma	-	OMIM:614091
57539	WDR35	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1515
57539	WDR35	HP:0001789	Hydrops fetalis	-	OMIM:613610
57539	WDR35	HP:0001789	Hydrops fetalis	HP:0040282	ORPHA:93271
57539	WDR35	HP:0001789	Hydrops fetalis	-	OMIM:614091
57539	WDR35	HP:0000470	Short neck	2/2	OMIM:613610
57539	WDR35	HP:0000470	Short neck	1/7	OMIM:615777
57539	WDR35	HP:0001773	Short foot	HP:0040281	ORPHA:93271
57539	WDR35	HP:0001769	Broad foot	HP:0040283	OMIM:615777
57539	WDR35	HP:0001763	Pes planus	1/7	OMIM:615777
57539	WDR35	HP:0000445	Wide nose	HP:0040282	ORPHA:93271
57539	WDR35	HP:0001748	Polysplenia	-	OMIM:613610
57539	WDR35	HP:0001744	Splenomegaly	-	OMIM:613610
57539	WDR35	HP:0000431	Wide nasal bridge	-	OMIM:613610
57539	WDR35	HP:0000518	Cataract	HP:0040283	ORPHA:93271
57539	WDR35	HP:0001840	Metatarsus adductus	-	OMIM:615777
57539	WDR35	HP:0000520	Proptosis	2/4	OMIM:131300
57539	WDR35	HP:0000520	Proptosis	7/7	OMIM:615777
57539	WDR35	HP:0000506	Telecanthus	2/2	OMIM:613610
57539	WDR35	HP:0000582	Upslanted palpebral fissure	-	OMIM:613610
57539	WDR35	HP:0000581	Blepharophimosis	-	OMIM:613610
57539	WDR35	HP:0000592	Blue sclerae	2/7	OMIM:615777
57539	WDR35	HP:0000540	Hypermetropia	1/2	OMIM:613610
57539	WDR35	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
57539	WDR35	HP:0012514	Lower limb pain	4/4	OMIM:131300
57539	WDR35	HP:0000545	Myopia	HP:0040283	ORPHA:1515
57545	CC2D2A	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:564
57545	CC2D2A	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0001162	Postaxial hand polydactyly	8/10	OMIM:612284
57545	CC2D2A	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2318
57545	CC2D2A	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
57545	CC2D2A	HP:0001133	Constriction of peripheral visual field	3/3	OMIM:619845
57545	CC2D2A	HP:0003774	Stage 5 chronic kidney disease	1/20	OMIM:612285
57545	CC2D2A	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
57545	CC2D2A	HP:0002419	Molar tooth sign on MRI	20/20	OMIM:612285
57545	CC2D2A	HP:0002419	Molar tooth sign on MRI	1/1	OMIM:619111
57545	CC2D2A	HP:0002419	Molar tooth sign on MRI	HP:0040281	ORPHA:2318
57545	CC2D2A	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
57545	CC2D2A	HP:0001293	Cranial nerve compression	-	OMIM:131300
57545	CC2D2A	HP:0001274	Agenesis of corpus callosum	1/1	OMIM:619111
57545	CC2D2A	HP:0001288	Gait disturbance	HP:0040282	ORPHA:1454
57545	CC2D2A	HP:0001250	Seizure	HP:0040283	ORPHA:2318
57545	CC2D2A	HP:0001250	Seizure	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0001250	Seizure	5/20	OMIM:612285
57545	CC2D2A	HP:0001252	Hypotonia	HP:0040281	ORPHA:2318
57545	CC2D2A	HP:0001252	Hypotonia	HP:0040281	ORPHA:1454
57545	CC2D2A	HP:0001252	Hypotonia	2/7	OMIM:615777
57545	CC2D2A	HP:0001251	Ataxia	HP:0040281	ORPHA:2318
57545	CC2D2A	HP:0001251	Ataxia	HP:0040281	ORPHA:1454
57545	CC2D2A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2318
57545	CC2D2A	HP:0001249	Intellectual disability	1/1	OMIM:619111
57545	CC2D2A	HP:0001249	Intellectual disability	5/7	OMIM:615777
57545	CC2D2A	HP:0001249	Intellectual disability	20/20	OMIM:612285
57545	CC2D2A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2318
57545	CC2D2A	HP:0001263	Global developmental delay	1/1	OMIM:619111
57545	CC2D2A	HP:0001263	Global developmental delay	-	OMIM:615777
57545	CC2D2A	HP:0001263	Global developmental delay	20/20	OMIM:612285
57545	CC2D2A	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2318
57545	CC2D2A	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:1454
57545	CC2D2A	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:2318
57545	CC2D2A	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0002515	Waddling gait	54/102	OMIM:131300
57545	CC2D2A	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:2318
57545	CC2D2A	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0000085	Horseshoe kidney	1/11	OMIM:612284
57545	CC2D2A	HP:0000068	Urethral atresia	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0001395	Hepatic fibrosis	1/20	OMIM:612285
57545	CC2D2A	HP:0001395	Hepatic fibrosis	1/1	OMIM:619111
57545	CC2D2A	HP:0001395	Hepatic fibrosis	7/7	OMIM:612284
57545	CC2D2A	HP:0001394	Cirrhosis	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0001382	Joint hypermobility	-	OMIM:615777
57545	CC2D2A	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1454
57545	CC2D2A	HP:0002694	Sclerosis of skull base	-	OMIM:131300
57545	CC2D2A	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0008897	Postnatal growth retardation	-	OMIM:615777
57545	CC2D2A	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:1454
57545	CC2D2A	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
57545	CC2D2A	HP:0001324	Muscle weakness	40/96	OMIM:131300
57545	CC2D2A	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
57545	CC2D2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
57545	CC2D2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
57545	CC2D2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:619111
57545	CC2D2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:619845
57545	CC2D2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:612285
57545	CC2D2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:612284
57545	CC2D2A	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:564
57545	CC2D2A	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0001337	Tremor	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
57545	CC2D2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
57545	CC2D2A	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:2318
57545	CC2D2A	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:1454
57545	CC2D2A	HP:0001320	Cerebellar vermis hypoplasia	1/1	OMIM:619111
57545	CC2D2A	HP:0002650	Scoliosis	HP:0040283	ORPHA:2318
57545	CC2D2A	HP:0002650	Scoliosis	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0002650	Scoliosis	12/14	OMIM:131300
57545	CC2D2A	HP:0002650	Scoliosis	2/20	OMIM:612285
57545	CC2D2A	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
57545	CC2D2A	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:564
57545	CC2D2A	HP:0002612	Congenital hepatic fibrosis	1/1	OMIM:619111
57545	CC2D2A	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:1454
57545	CC2D2A	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
57545	CC2D2A	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
57545	CC2D2A	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
57545	CC2D2A	HP:0000175	Cleft palate	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0000175	Cleft palate	2/7	OMIM:615777
57545	CC2D2A	HP:0000175	Cleft palate	2/4	OMIM:612284
57545	CC2D2A	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
57545	CC2D2A	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
57545	CC2D2A	HP:0007663	Reduced visual acuity	3/3	OMIM:619845
57545	CC2D2A	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
57545	CC2D2A	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
57545	CC2D2A	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:1454
57545	CC2D2A	HP:0002789	Tachypnea	HP:0040281	ORPHA:2318
57545	CC2D2A	HP:0000112	Nephropathy	HP:0040281	ORPHA:2318
57545	CC2D2A	HP:0000112	Nephropathy	HP:0040282	ORPHA:1454
57545	CC2D2A	HP:0000107	Renal cyst	11/11	OMIM:612284
57545	CC2D2A	HP:0001409	Portal hypertension	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0001408	Bile duct proliferation	-	OMIM:612284
57545	CC2D2A	HP:0001407	Hepatic cysts	7/7	OMIM:612284
57545	CC2D2A	HP:0005949	Apneic episodes in infancy	1/1	OMIM:619111
57545	CC2D2A	HP:0033183	Bilobed right lung	1/11	OMIM:612284
57545	CC2D2A	HP:0002089	Pulmonary hypoplasia	6/6	OMIM:612284
57545	CC2D2A	HP:0002085	Occipital encephalocele	11/11	OMIM:612284
57545	CC2D2A	HP:0002085	Occipital encephalocele	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0002084	Encephalocele	1/20	OMIM:612285
57545	CC2D2A	HP:0002084	Encephalocele	HP:0040283	ORPHA:2318
57545	CC2D2A	HP:0002084	Encephalocele	HP:0040281	ORPHA:564
57545	CC2D2A	HP:0003388	Easy fatigability	36/76	OMIM:131300
57545	CC2D2A	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
57545	CC2D2A	HP:0010477	Aplasia of the bladder	1/11	OMIM:612284
57545	CC2D2A	HP:0010459	True hermaphroditism	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0002119	Ventriculomegaly	13/17	OMIM:612285
57545	CC2D2A	HP:0002104	Apnea	HP:0040281	ORPHA:2318
57545	CC2D2A	HP:0002104	Apnea	HP:0040281	ORPHA:1454
57545	CC2D2A	HP:0002104	Apnea	12/20	OMIM:612285
57545	CC2D2A	HP:0004719	Hyperechogenic kidneys	1/1	OMIM:619111
57545	CC2D2A	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:2318
57545	CC2D2A	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0003577	Congenital onset	1/3	OMIM:619845
57545	CC2D2A	HP:0003577	Congenital onset	1/1	OMIM:619111
57545	CC2D2A	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:1454
57545	CC2D2A	HP:0100704	Cerebral visual impairment	2/20	OMIM:612285
57545	CC2D2A	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:2318
57545	CC2D2A	HP:0100732	Pancreatic fibrosis	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0032027	Retinal dots	1/3	OMIM:619845
57545	CC2D2A	HP:0003510	Severe short stature	7/7	OMIM:615777
57545	CC2D2A	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:1454
57545	CC2D2A	HP:0002323	Anencephaly	2/11	OMIM:612284
57545	CC2D2A	HP:0002323	Anencephaly	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0002315	Headache	-	OMIM:131300
57545	CC2D2A	HP:0004976	Knee dislocation	6/7	OMIM:615777
57545	CC2D2A	HP:0100626	Chronic hepatic failure	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0009803	Short phalanx of finger	-	OMIM:615777
57545	CC2D2A	HP:0009763	Limb pain	63/92	OMIM:131300
57545	CC2D2A	HP:0003621	Juvenile onset	8/19	OMIM:180100
57545	CC2D2A	HP:0003621	Juvenile onset	-	OMIM:131300
57545	CC2D2A	HP:0006870	Lobar holoprosencephaly	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
57545	CC2D2A	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
57545	CC2D2A	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
57545	CC2D2A	HP:0000639	Nystagmus	HP:0040282	ORPHA:2318
57545	CC2D2A	HP:0000639	Nystagmus	HP:0040282	ORPHA:1454
57545	CC2D2A	HP:0000639	Nystagmus	13/19	OMIM:612285
57545	CC2D2A	HP:6001056	Out-toeing	-	OMIM:131300
57545	CC2D2A	HP:0000651	Diplopia	-	OMIM:131300
57545	CC2D2A	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
57545	CC2D2A	HP:0000648	Optic atrophy	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0000647	Sclerocornea	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0000618	Blindness	HP:0040281	ORPHA:791
57545	CC2D2A	HP:0000618	Blindness	HP:0040282	ORPHA:2318
57545	CC2D2A	HP:0000613	Photophobia	HP:0040281	ORPHA:791
57545	CC2D2A	HP:0000612	Iris coloboma	HP:0040282	ORPHA:2318
57545	CC2D2A	HP:0000612	Iris coloboma	HP:0040282	ORPHA:1454
57545	CC2D2A	HP:0001956	Truncal obesity	2/7	OMIM:615777
57545	CC2D2A	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
57545	CC2D2A	HP:0001903	Anemia	HP:0040283	OMIM:131300
57545	CC2D2A	HP:0010049	Short metacarpal	-	OMIM:615777
57545	CC2D2A	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
57545	CC2D2A	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
57545	CC2D2A	HP:0000678	Dental crowding	-	OMIM:615777
57545	CC2D2A	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
57545	CC2D2A	HP:0000662	Nyctalopia	26/28	OMIM:180100
57545	CC2D2A	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:1454
57545	CC2D2A	HP:0000657	Oculomotor apraxia	13/19	OMIM:612285
57545	CC2D2A	HP:0000657	Oculomotor apraxia	1/1	OMIM:619111
57545	CC2D2A	HP:0000670	Carious teeth	-	OMIM:131300
57545	CC2D2A	HP:0011304	Broad thumb	2/7	OMIM:615777
57545	CC2D2A	HP:0000668	Hypodontia	-	OMIM:615777
57545	CC2D2A	HP:0000664	Synophrys	-	OMIM:615777
57545	CC2D2A	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
57545	CC2D2A	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2318
57545	CC2D2A	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0004396	Poor appetite	-	OMIM:131300
57545	CC2D2A	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
57545	CC2D2A	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
57545	CC2D2A	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
57545	CC2D2A	HP:0003026	Short long bone	7/7	OMIM:615777
57545	CC2D2A	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
57545	CC2D2A	HP:0000767	Pectus excavatum	2/7	OMIM:615777
57545	CC2D2A	HP:0000768	Pectus carinatum	1/7	OMIM:615777
57545	CC2D2A	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
57545	CC2D2A	HP:0000750	Delayed speech and language development	-	OMIM:615777
57545	CC2D2A	HP:0000729	Autistic behavior	HP:0040282	ORPHA:2318
57545	CC2D2A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2318
57545	CC2D2A	HP:0011467	Absent gallbladder	1/11	OMIM:612284
57545	CC2D2A	HP:0011463	Childhood onset	3/19	OMIM:180100
57545	CC2D2A	HP:0011462	Young adult onset	2/3	OMIM:619845
57545	CC2D2A	HP:0011462	Young adult onset	8/19	OMIM:180100
57545	CC2D2A	HP:0011461	Fetal onset	7/7	OMIM:615777
57545	CC2D2A	HP:0011461	Fetal onset	11/11	OMIM:612284
57545	CC2D2A	HP:0000774	Narrow chest	2/7	OMIM:615777
57545	CC2D2A	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2318
57545	CC2D2A	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:1454
57545	CC2D2A	HP:0030786	Photopsia	HP:0040283	ORPHA:791
57545	CC2D2A	HP:0000926	Platyspondyly	1/7	OMIM:615777
57545	CC2D2A	HP:0003180	Flat acetabular roof	-	OMIM:615777
57545	CC2D2A	HP:0004482	Relative macrocephaly	-	OMIM:615777
57545	CC2D2A	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
57545	CC2D2A	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
57545	CC2D2A	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:2318
57545	CC2D2A	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
57545	CC2D2A	HP:0000812	Abnormal internal genitalia	HP:0040283	OMIM:612284
57545	CC2D2A	HP:0000822	Hypertension	1/1	OMIM:619111
57545	CC2D2A	HP:0000823	Delayed puberty	-	OMIM:131300
57545	CC2D2A	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0000894	Short clavicles	-	OMIM:615777
57545	CC2D2A	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
57545	CC2D2A	HP:0003259	Elevated circulating creatinine concentration	1/1	OMIM:619111
57545	CC2D2A	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
57545	CC2D2A	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
57545	CC2D2A	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
57545	CC2D2A	HP:0000286	Epicanthus	1/7	OMIM:615777
57545	CC2D2A	HP:0000280	Coarse facial features	2/7	OMIM:615777
57545	CC2D2A	HP:0000293	Full cheeks	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0000256	Macrocephaly	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0000276	Long face	HP:0040282	ORPHA:2318
57545	CC2D2A	HP:0000276	Long face	HP:0040282	ORPHA:1454
57545	CC2D2A	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
57545	CC2D2A	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
57545	CC2D2A	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
57545	CC2D2A	HP:0002827	Hip dislocation	3/7	OMIM:615777
57545	CC2D2A	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0000238	Hydrocephalus	1/1	OMIM:619111
57545	CC2D2A	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2318
57545	CC2D2A	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0000238	Hydrocephalus	1/11	OMIM:612284
57545	CC2D2A	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0000252	Microcephaly	HP:0040281	ORPHA:564
57545	CC2D2A	HP:0000252	Microcephaly	-	OMIM:615777
57545	CC2D2A	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0002876	Episodic tachypnea	12/20	OMIM:612285
57545	CC2D2A	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0002857	Genu valgum	-	OMIM:131300
57545	CC2D2A	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0001533	Slender build	-	OMIM:131300
57545	CC2D2A	HP:0000204	Cleft upper lip	2/4	OMIM:612284
57545	CC2D2A	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
57545	CC2D2A	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
57545	CC2D2A	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
57545	CC2D2A	HP:0007807	Optic nerve compression	-	OMIM:131300
57545	CC2D2A	HP:0012368	Flat face	7/7	OMIM:615777
57545	CC2D2A	HP:0006580	Portal fibrosis	1/1	OMIM:619111
57545	CC2D2A	HP:0005248	Intrahepatic biliary atresia	HP:0040281	ORPHA:1454
57545	CC2D2A	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
57545	CC2D2A	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:1454
57545	CC2D2A	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:619111
57545	CC2D2A	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0000365	Hearing impairment	10/67	OMIM:131300
57545	CC2D2A	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2318
57545	CC2D2A	HP:0000369	Low-set ears	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0000340	Sloping forehead	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0000343	Long philtrum	1/7	OMIM:615777
57545	CC2D2A	HP:0011001	Increased bone mineral density	-	OMIM:131300
57545	CC2D2A	HP:0000347	Micrognathia	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0000316	Hypertelorism	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0000311	Round face	2/7	OMIM:615777
57545	CC2D2A	HP:0002970	Genu varum	-	OMIM:615777
57545	CC2D2A	HP:0000303	Mandibular prognathia	-	OMIM:131300
57545	CC2D2A	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
57545	CC2D2A	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
57545	CC2D2A	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
57545	CC2D2A	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
57545	CC2D2A	HP:0000483	Astigmatism	-	OMIM:612285
57545	CC2D2A	HP:0000486	Strabismus	HP:0040283	ORPHA:2318
57545	CC2D2A	HP:0000486	Strabismus	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0000486	Strabismus	1/1	OMIM:619111
57545	CC2D2A	HP:0000482	Microcornea	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2318
57545	CC2D2A	HP:0000463	Anteverted nares	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0000470	Short neck	1/7	OMIM:615777
57545	CC2D2A	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
57545	CC2D2A	HP:0001769	Broad foot	HP:0040283	OMIM:615777
57545	CC2D2A	HP:0001763	Pes planus	1/7	OMIM:615777
57545	CC2D2A	HP:0001746	Asplenia	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0001747	Accessory spleen	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0001762	Talipes equinovarus	7/7	OMIM:612284
57545	CC2D2A	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:2318
57545	CC2D2A	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0006706	Cystic liver disease	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0006706	Cystic liver disease	7/7	OMIM:612284
57545	CC2D2A	HP:0000518	Cataract	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0000518	Cataract	-	OMIM:612285
57545	CC2D2A	HP:0000510	Rod-cone dystrophy	3/3	OMIM:619845
57545	CC2D2A	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
57545	CC2D2A	HP:0001840	Metatarsus adductus	-	OMIM:615777
57545	CC2D2A	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
57545	CC2D2A	HP:0000528	Anophthalmia	HP:0040283	ORPHA:564
57545	CC2D2A	HP:0000520	Proptosis	2/4	OMIM:131300
57545	CC2D2A	HP:0000520	Proptosis	7/7	OMIM:615777
57545	CC2D2A	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:2318
57545	CC2D2A	HP:0000508	Ptosis	HP:0040282	ORPHA:2318
57545	CC2D2A	HP:0000508	Ptosis	HP:0040283	ORPHA:1454
57545	CC2D2A	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
57545	CC2D2A	HP:0000505	Visual impairment	HP:0040282	ORPHA:2318
57545	CC2D2A	HP:0000505	Visual impairment	HP:0040282	ORPHA:1454
57545	CC2D2A	HP:0001830	Postaxial foot polydactyly	10/10	OMIM:612284
57545	CC2D2A	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:564
57545	CC2D2A	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
57545	CC2D2A	HP:0000575	Scotoma	5/18	OMIM:180100
57545	CC2D2A	HP:0000592	Blue sclerae	2/7	OMIM:615777
57545	CC2D2A	HP:0000589	Coloboma	1/1	OMIM:619111
57545	CC2D2A	HP:0000588	Optic disc coloboma	HP:0040282	ORPHA:1454
57545	CC2D2A	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
57545	CC2D2A	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:2318
57545	CC2D2A	HP:0000556	Retinal dystrophy	2/20	OMIM:612285
57545	CC2D2A	HP:0000568	Microphthalmia	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0000567	Chorioretinal coloboma	1/1	OMIM:619111
57545	CC2D2A	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:2318
57545	CC2D2A	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:1454
57545	CC2D2A	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
57545	CC2D2A	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0000550	Undetectable electroretinogram	3/3	OMIM:619845
57545	CC2D2A	HP:0001883	Talipes	HP:0040282	ORPHA:564
57545	CC2D2A	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
57545	CC2D2A	HP:0012514	Lower limb pain	4/4	OMIM:131300
57545	CC2D2A	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
57545	CC2D2A	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
57545	CC2D2A	HP:0000543	Optic disc pallor	1/1	OMIM:180100
57545	CC2D2A	HP:0000545	Myopia	-	OMIM:180100
57551	TAOK1	HP:0001134	Anterior polar cataract	1/20	OMIM:619575
57551	TAOK1	HP:0025161	Frequent temper tantrums	3/20	OMIM:619575
57551	TAOK1	HP:0002415	Leukodystrophy	1/8	OMIM:619575
57551	TAOK1	HP:0001270	Motor delay	6/8	OMIM:619575
57551	TAOK1	HP:0001250	Seizure	1/8	OMIM:619575
57551	TAOK1	HP:0001252	Hypotonia	16/28	OMIM:619575
57551	TAOK1	HP:0001249	Intellectual disability	18/28	OMIM:619575
57551	TAOK1	HP:0001265	Hyporeflexia	1/8	OMIM:619575
57551	TAOK1	HP:0001263	Global developmental delay	24/28	OMIM:619575
57551	TAOK1	HP:0002573	Hematochezia	1/20	OMIM:619575
57551	TAOK1	HP:0001382	Joint hypermobility	8/28	OMIM:619575
57551	TAOK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619575
57551	TAOK1	HP:0012168	Head-banging	1/20	OMIM:619575
57551	TAOK1	HP:0002705	High, narrow palate	3/8	OMIM:619575
57551	TAOK1	HP:0002003	Large forehead	2/8	OMIM:619575
57551	TAOK1	HP:0100716	Self-injurious behavior	2/20	OMIM:619575
57551	TAOK1	HP:0002205	Recurrent respiratory infections	4/20	OMIM:619575
57551	TAOK1	HP:0007018	Attention deficit hyperactivity disorder	3/28	OMIM:619575
57551	TAOK1	HP:0011968	Feeding difficulties	9/18	OMIM:619575
57551	TAOK1	HP:0007099	Chiari type I malformation	1/20	OMIM:619575
57551	TAOK1	HP:0007082	Dilated third ventricle	1/20	OMIM:619575
57551	TAOK1	HP:0008499	High hypermetropia	1/20	OMIM:619575
57551	TAOK1	HP:0004969	Peripheral pulmonary artery stenosis	1/20	OMIM:619575
57551	TAOK1	HP:0000639	Nystagmus	1/8	OMIM:619575
57551	TAOK1	HP:0001947	Renal tubular acidosis	1/8	OMIM:619575
57551	TAOK1	HP:0001942	Metabolic acidosis	1/8	OMIM:619575
57551	TAOK1	HP:0004322	Short stature	4/20	OMIM:619575
57551	TAOK1	HP:0006956	Lateral ventricle dilatation	1/20	OMIM:619575
57551	TAOK1	HP:0011410	Caesarean section	5/20	OMIM:619575
57551	TAOK1	HP:0000733	Motor stereotypy	1/20	OMIM:619575
57551	TAOK1	HP:0000736	Short attention span	2/8	OMIM:619575
57551	TAOK1	HP:0000750	Delayed speech and language development	5/8	OMIM:619575
57551	TAOK1	HP:0000717	Autism	2/8	OMIM:619575
57551	TAOK1	HP:0000729	Autistic behavior	3/20	OMIM:619575
57551	TAOK1	HP:0000256	Macrocephaly	10/26	OMIM:619575
57551	TAOK1	HP:0000238	Hydrocephalus	2/20	OMIM:619575
57551	TAOK1	HP:0025502	Overweight	6/20	OMIM:619575
57551	TAOK1	HP:0001508	Failure to thrive	1/20	OMIM:619575
57551	TAOK1	HP:0000369	Low-set ears	3/8	OMIM:619575
57551	TAOK1	HP:0000348	High forehead	4/8	OMIM:619575
57551	TAOK1	HP:0000316	Hypertelorism	1/8	OMIM:619575
57551	TAOK1	HP:0000322	Short philtrum	1/8	OMIM:619575
57551	TAOK1	HP:0000325	Triangular face	1/8	OMIM:619575
57551	TAOK1	HP:0001629	Ventricular septal defect	3/20	OMIM:619575
57551	TAOK1	HP:0000407	Sensorineural hearing impairment	1/8	OMIM:619575
57551	TAOK1	HP:0000403	Recurrent otitis media	5/20	OMIM:619575
57551	TAOK1	HP:0005280	Depressed nasal bridge	1/8	OMIM:619575
57551	TAOK1	HP:0000486	Strabismus	4/20	OMIM:619575
57551	TAOK1	HP:0012450	Chronic constipation	3/20	OMIM:619575
57551	TAOK1	HP:0001763	Pes planus	2/8	OMIM:619575
57551	TAOK1	HP:0000505	Visual impairment	1/8	OMIM:619575
57551	TAOK1	HP:0000540	Hypermetropia	1/8	OMIM:619575
57560	IFT80	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:93271
57560	IFT80	HP:0001169	Broad palm	-	OMIM:611263
57560	IFT80	HP:0001156	Brachydactyly	HP:0040282	ORPHA:474
57560	IFT80	HP:0001156	Brachydactyly	-	OMIM:611263
57560	IFT80	HP:0001162	Postaxial hand polydactyly	HP:0040282	ORPHA:93271
57560	IFT80	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:474
57560	IFT80	HP:0001162	Postaxial hand polydactyly	-	OMIM:611263
57560	IFT80	HP:0003762	Uterus didelphys	HP:0040282	ORPHA:93271
57560	IFT80	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
57560	IFT80	HP:0001293	Cranial nerve compression	-	OMIM:131300
57560	IFT80	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93271
57560	IFT80	HP:0001252	Hypotonia	2/7	OMIM:615777
57560	IFT80	HP:0001249	Intellectual disability	5/7	OMIM:615777
57560	IFT80	HP:0001263	Global developmental delay	-	OMIM:615777
57560	IFT80	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:93271
57560	IFT80	HP:0008716	Urethrovaginal fistula	HP:0040282	ORPHA:93271
57560	IFT80	HP:0002515	Waddling gait	54/102	OMIM:131300
57560	IFT80	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:93271
57560	IFT80	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:474
57560	IFT80	HP:0000090	Nephronophthisis	HP:0040283	ORPHA:474
57560	IFT80	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:93271
57560	IFT80	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:474
57560	IFT80	HP:0001382	Joint hypermobility	-	OMIM:615777
57560	IFT80	HP:0002694	Sclerosis of skull base	-	OMIM:131300
57560	IFT80	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:93271
57560	IFT80	HP:0008897	Postnatal growth retardation	-	OMIM:615777
57560	IFT80	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:93271
57560	IFT80	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:474
57560	IFT80	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
57560	IFT80	HP:0001324	Muscle weakness	40/96	OMIM:131300
57560	IFT80	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
57560	IFT80	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
57560	IFT80	HP:0000007	Autosomal recessive inheritance	-	OMIM:611263
57560	IFT80	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
57560	IFT80	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:93271
57560	IFT80	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:474
57560	IFT80	HP:0002650	Scoliosis	12/14	OMIM:131300
57560	IFT80	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:93271
57560	IFT80	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
57560	IFT80	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:474
57560	IFT80	HP:0002612	Congenital hepatic fibrosis	HP:0040282	ORPHA:93271
57560	IFT80	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
57560	IFT80	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
57560	IFT80	HP:0008905	Rhizomelia	-	OMIM:611263
57560	IFT80	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
57560	IFT80	HP:0000175	Cleft palate	2/7	OMIM:615777
57560	IFT80	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:93271
57560	IFT80	HP:0000112	Nephropathy	HP:0040283	ORPHA:474
57560	IFT80	HP:0000107	Renal cyst	HP:0040283	ORPHA:93271
57560	IFT80	HP:0002023	Anal atresia	HP:0040283	ORPHA:93271
57560	IFT80	HP:0002032	Esophageal atresia	HP:0040283	ORPHA:93271
57560	IFT80	HP:0002007	Frontal bossing	HP:0040282	ORPHA:93271
57560	IFT80	HP:0002006	Tessier cleft	HP:0040283	ORPHA:93271
57560	IFT80	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:93271
57560	IFT80	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:93271
57560	IFT80	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:474
57560	IFT80	HP:0003388	Easy fatigability	36/76	OMIM:131300
57560	IFT80	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
57560	IFT80	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:93271
57560	IFT80	HP:0010564	Bifid epiglottis	HP:0040283	ORPHA:93271
57560	IFT80	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:474
57560	IFT80	HP:0003510	Severe short stature	7/7	OMIM:615777
57560	IFT80	HP:0002315	Headache	-	OMIM:131300
57560	IFT80	HP:0004976	Knee dislocation	6/7	OMIM:615777
57560	IFT80	HP:0009803	Short phalanx of finger	-	OMIM:615777
57560	IFT80	HP:0009763	Limb pain	63/92	OMIM:131300
57560	IFT80	HP:0003621	Juvenile onset	-	OMIM:131300
57560	IFT80	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
57560	IFT80	HP:0004279	Short palm	HP:0040281	ORPHA:93271
57560	IFT80	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
57560	IFT80	HP:6001056	Out-toeing	-	OMIM:131300
57560	IFT80	HP:0000651	Diplopia	-	OMIM:131300
57560	IFT80	HP:0001956	Truncal obesity	2/7	OMIM:615777
57560	IFT80	HP:0001903	Anemia	HP:0040283	OMIM:131300
57560	IFT80	HP:0010049	Short metacarpal	-	OMIM:615777
57560	IFT80	HP:0010049	Short metacarpal	-	OMIM:611263
57560	IFT80	HP:0000678	Dental crowding	-	OMIM:615777
57560	IFT80	HP:0000670	Carious teeth	-	OMIM:131300
57560	IFT80	HP:0011304	Broad thumb	2/7	OMIM:615777
57560	IFT80	HP:0000668	Hypodontia	-	OMIM:615777
57560	IFT80	HP:0000664	Synophrys	-	OMIM:615777
57560	IFT80	HP:0004322	Short stature	HP:0040283	ORPHA:474
57560	IFT80	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:93271
57560	IFT80	HP:0004397	Ectopic anus	HP:0040283	ORPHA:93271
57560	IFT80	HP:0004396	Poor appetite	-	OMIM:131300
57560	IFT80	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
57560	IFT80	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
57560	IFT80	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
57560	IFT80	HP:0003026	Short long bone	7/7	OMIM:615777
57560	IFT80	HP:0003027	Mesomelia	-	OMIM:611263
57560	IFT80	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
57560	IFT80	HP:0009106	Abnormal pelvis bone ossification	HP:0040281	ORPHA:93271
57560	IFT80	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:474
57560	IFT80	HP:0000767	Pectus excavatum	2/7	OMIM:615777
57560	IFT80	HP:0000766	Abnormal sternum morphology	HP:0040282	ORPHA:474
57560	IFT80	HP:0000768	Pectus carinatum	1/7	OMIM:615777
57560	IFT80	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
57560	IFT80	HP:0000750	Delayed speech and language development	-	OMIM:615777
57560	IFT80	HP:0011461	Fetal onset	7/7	OMIM:615777
57560	IFT80	HP:0000774	Narrow chest	HP:0040281	ORPHA:93271
57560	IFT80	HP:0000774	Narrow chest	HP:0040281	ORPHA:474
57560	IFT80	HP:0000774	Narrow chest	-	OMIM:611263
57560	IFT80	HP:0000774	Narrow chest	2/7	OMIM:615777
57560	IFT80	HP:0000773	Short ribs	HP:0040281	ORPHA:93271
57560	IFT80	HP:0005716	Lethal skeletal dysplasia	HP:0040281	ORPHA:93271
57560	IFT80	HP:0000926	Platyspondyly	1/7	OMIM:615777
57560	IFT80	HP:0003180	Flat acetabular roof	-	OMIM:615777
57560	IFT80	HP:0004482	Relative macrocephaly	-	OMIM:615777
57560	IFT80	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
57560	IFT80	HP:0000889	Abnormal clavicle morphology	HP:0040282	ORPHA:474
57560	IFT80	HP:0000823	Delayed puberty	-	OMIM:131300
57560	IFT80	HP:0010297	Bifid tongue	HP:0040283	ORPHA:93271
57560	IFT80	HP:0000894	Short clavicles	-	OMIM:615777
57560	IFT80	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
57560	IFT80	HP:0003270	Abdominal distention	HP:0040281	ORPHA:93271
57560	IFT80	HP:0004599	Absent or minimally ossified vertebral bodies	HP:0040282	ORPHA:93271
57560	IFT80	HP:0010306	Short thorax	HP:0040281	ORPHA:474
57560	IFT80	HP:0010306	Short thorax	HP:0040281	ORPHA:93271
57560	IFT80	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
57560	IFT80	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:474
57560	IFT80	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:93271
57560	IFT80	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:474
57560	IFT80	HP:0000286	Epicanthus	HP:0040282	ORPHA:93271
57560	IFT80	HP:0000286	Epicanthus	1/7	OMIM:615777
57560	IFT80	HP:0000280	Coarse facial features	2/7	OMIM:615777
57560	IFT80	HP:0000256	Macrocephaly	HP:0040282	ORPHA:93271
57560	IFT80	HP:0002827	Hip dislocation	3/7	OMIM:615777
57560	IFT80	HP:0000252	Microcephaly	-	OMIM:615777
57560	IFT80	HP:0002857	Genu valgum	-	OMIM:131300
57560	IFT80	HP:0001539	Omphalocele	HP:0040283	ORPHA:93271
57560	IFT80	HP:0001533	Slender build	-	OMIM:131300
57560	IFT80	HP:0000204	Cleft upper lip	HP:0040282	ORPHA:93271
57560	IFT80	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
57560	IFT80	HP:0007807	Optic nerve compression	-	OMIM:131300
57560	IFT80	HP:0012368	Flat face	7/7	OMIM:615777
57560	IFT80	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
57560	IFT80	HP:0000365	Hearing impairment	10/67	OMIM:131300
57560	IFT80	HP:0000343	Long philtrum	HP:0040282	ORPHA:93271
57560	IFT80	HP:0000343	Long philtrum	1/7	OMIM:615777
57560	IFT80	HP:0011001	Increased bone mineral density	-	OMIM:131300
57560	IFT80	HP:0000347	Micrognathia	HP:0040282	ORPHA:93271
57560	IFT80	HP:0002983	Micromelia	HP:0040281	ORPHA:93271
57560	IFT80	HP:0002983	Micromelia	HP:0040281	ORPHA:474
57560	IFT80	HP:0000311	Round face	2/7	OMIM:615777
57560	IFT80	HP:0002970	Genu varum	-	OMIM:615777
57560	IFT80	HP:0000303	Mandibular prognathia	-	OMIM:131300
57560	IFT80	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:93271
57560	IFT80	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
57560	IFT80	HP:0001789	Hydrops fetalis	HP:0040282	ORPHA:93271
57560	IFT80	HP:0000470	Short neck	1/7	OMIM:615777
57560	IFT80	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:474
57560	IFT80	HP:0001773	Short foot	HP:0040281	ORPHA:93271
57560	IFT80	HP:0001773	Short foot	HP:0040282	ORPHA:474
57560	IFT80	HP:0001773	Short foot	-	OMIM:611263
57560	IFT80	HP:0001769	Broad foot	HP:0040283	OMIM:615777
57560	IFT80	HP:0001763	Pes planus	1/7	OMIM:615777
57560	IFT80	HP:0000445	Wide nose	HP:0040282	ORPHA:93271
57560	IFT80	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040283	ORPHA:474
57560	IFT80	HP:0000518	Cataract	HP:0040283	ORPHA:93271
57560	IFT80	HP:0001840	Metatarsus adductus	-	OMIM:615777
57560	IFT80	HP:0000520	Proptosis	2/4	OMIM:131300
57560	IFT80	HP:0000520	Proptosis	7/7	OMIM:615777
57560	IFT80	HP:0001830	Postaxial foot polydactyly	HP:0040283	ORPHA:474
57560	IFT80	HP:0000592	Blue sclerae	2/7	OMIM:615777
57560	IFT80	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
57560	IFT80	HP:0012514	Lower limb pain	4/4	OMIM:131300
57562	CEP126	HP:0001324	Muscle weakness	HP:0040281	ORPHA:65684
57562	CEP126	HP:0001337	Tremor	HP:0040283	ORPHA:65684
57562	CEP126	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:65684
57562	CEP126	HP:0003457	EMG abnormality	HP:0040281	ORPHA:65684
57562	CEP126	HP:0002380	Fasciculations	HP:0040283	ORPHA:65684
57562	CEP126	HP:0002398	Degeneration of anterior horn cells	HP:0040282	ORPHA:65684
57562	CEP126	HP:0007149	Distal upper limb amyotrophy	HP:0040281	ORPHA:65684
57562	CEP126	HP:0100022	Abnormality of movement	HP:0040283	ORPHA:65684
57562	CEP126	HP:0003134	Abnormality of peripheral nerve conduction	HP:0040282	ORPHA:65684
57562	CEP126	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:65684
57570	TRMT5	HP:0002465	Poor speech	1/2	OMIM:616539
57570	TRMT5	HP:0001276	Hypertonia	1/2	OMIM:616539
57570	TRMT5	HP:0001252	Hypotonia	1/2	OMIM:616539
57570	TRMT5	HP:0001265	Hyporeflexia	1/2	OMIM:616539
57570	TRMT5	HP:0001263	Global developmental delay	1/2	OMIM:616539
57570	TRMT5	HP:0001257	Spasticity	2/2	OMIM:616539
57570	TRMT5	HP:0001394	Cirrhosis	2/2	OMIM:616539
57570	TRMT5	HP:0001347	Hyperreflexia	1/2	OMIM:616539
57570	TRMT5	HP:0001324	Muscle weakness	2/2	OMIM:616539
57570	TRMT5	HP:0000007	Autosomal recessive inheritance	-	OMIM:616539
57570	TRMT5	HP:0001337	Tremor	1/2	OMIM:616539
57570	TRMT5	HP:0000160	Narrow mouth	1/2	OMIM:616539
57570	TRMT5	HP:0000124	Renal tubular dysfunction	1/2	OMIM:616539
57570	TRMT5	HP:0002024	Malabsorption	1/2	OMIM:616539
57570	TRMT5	HP:0002017	Nausea and vomiting	1/2	OMIM:616539
57570	TRMT5	HP:0004691	2-3 toe syndactyly	1/2	OMIM:616539
57570	TRMT5	HP:0002094	Dyspnea	1/2	OMIM:616539
57570	TRMT5	HP:0003487	Babinski sign	1/2	OMIM:616539
57570	TRMT5	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:616539
57570	TRMT5	HP:0011924	Decreased activity of mitochondrial complex III	1/2	OMIM:616539
57570	TRMT5	HP:0011923	Decreased activity of mitochondrial complex I	1/2	OMIM:616539
57570	TRMT5	HP:0002188	Delayed CNS myelination	1/2	OMIM:616539
57570	TRMT5	HP:0003546	Exercise intolerance	2/2	OMIM:616539
57570	TRMT5	HP:0008347	Decreased activity of mitochondrial complex IV	1/2	OMIM:616539
57570	TRMT5	HP:0011968	Feeding difficulties	1/2	OMIM:616539
57570	TRMT5	HP:0003698	Difficulty standing	1/2	OMIM:616539
57570	TRMT5	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1/2	OMIM:616539
57570	TRMT5	HP:0009830	Peripheral neuropathy	1/2	OMIM:616539
57570	TRMT5	HP:0003623	Neonatal onset	1/2	OMIM:616539
57570	TRMT5	HP:0001952	Glucose intolerance	1/2	OMIM:616539
57570	TRMT5	HP:0003076	Glycosuria	1/2	OMIM:616539
57570	TRMT5	HP:0000737	Irritability	1/2	OMIM:616539
57570	TRMT5	HP:0011462	Young adult onset	1/2	OMIM:616539
57570	TRMT5	HP:0003128	Lactic acidosis	2/2	OMIM:616539
57570	TRMT5	HP:0040217	Elevated hemoglobin A1c	1/2	OMIM:616539
57570	TRMT5	HP:0002875	Exertional dyspnea	2/2	OMIM:616539
57570	TRMT5	HP:0001508	Failure to thrive	1/2	OMIM:616539
57570	TRMT5	HP:0000325	Triangular face	1/2	OMIM:616539
57570	TRMT5	HP:0001639	Hypertrophic cardiomyopathy	1/2	OMIM:616539
57570	TRMT5	HP:0001738	Exocrine pancreatic insufficiency	1/2	OMIM:616539
57570	TRMT5	HP:0012444	Brain atrophy	1/2	OMIM:616539
57570	TRMT5	HP:0000592	Blue sclerae	1/2	OMIM:616539
57572	DOCK6	HP:0001171	Split hand	HP:0040282	ORPHA:974
57572	DOCK6	HP:0001156	Brachydactyly	HP:0040282	ORPHA:974
57572	DOCK6	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:974
57572	DOCK6	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
57572	DOCK6	HP:0001293	Cranial nerve compression	-	OMIM:131300
57572	DOCK6	HP:0001276	Hypertonia	HP:0040283	ORPHA:974
57572	DOCK6	HP:0001269	Hemiparesis	HP:0040283	ORPHA:974
57572	DOCK6	HP:0001250	Seizure	1/2	OMIM:614219
57572	DOCK6	HP:0001250	Seizure	HP:0040283	ORPHA:974
57572	DOCK6	HP:0001252	Hypotonia	-	OMIM:614219
57572	DOCK6	HP:0001252	Hypotonia	2/7	OMIM:615777
57572	DOCK6	HP:0001249	Intellectual disability	HP:0040283	ORPHA:974
57572	DOCK6	HP:0001249	Intellectual disability	5/7	OMIM:615777
57572	DOCK6	HP:0001263	Global developmental delay	-	OMIM:614219
57572	DOCK6	HP:0001263	Global developmental delay	-	OMIM:615777
57572	DOCK6	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:974
57572	DOCK6	HP:0002515	Waddling gait	54/102	OMIM:131300
57572	DOCK6	HP:0002509	Limb hypertonia	1/2	OMIM:614219
57572	DOCK6	HP:0001394	Cirrhosis	HP:0040283	ORPHA:974
57572	DOCK6	HP:0001382	Joint hypermobility	-	OMIM:615777
57572	DOCK6	HP:0002694	Sclerosis of skull base	-	OMIM:131300
57572	DOCK6	HP:0001362	Calvarial skull defect	HP:0040281	ORPHA:974
57572	DOCK6	HP:0008897	Postnatal growth retardation	-	OMIM:615777
57572	DOCK6	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
57572	DOCK6	HP:0001324	Muscle weakness	40/96	OMIM:131300
57572	DOCK6	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
57572	DOCK6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
57572	DOCK6	HP:0000007	Autosomal recessive inheritance	-	OMIM:614219
57572	DOCK6	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
57572	DOCK6	HP:0002650	Scoliosis	12/14	OMIM:131300
57572	DOCK6	HP:0001321	Cerebellar hypoplasia	HP:0040283	OMIM:614219
57572	DOCK6	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
57572	DOCK6	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:974
57572	DOCK6	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
57572	DOCK6	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
57572	DOCK6	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
57572	DOCK6	HP:0000175	Cleft palate	2/7	OMIM:615777
57572	DOCK6	HP:0008936	Axial hypotonia	1/2	OMIM:614219
57572	DOCK6	HP:0001409	Portal hypertension	HP:0040283	ORPHA:974
57572	DOCK6	HP:0002084	Encephalocele	HP:0040283	ORPHA:974
57572	DOCK6	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:974
57572	DOCK6	HP:0002040	Esophageal varix	HP:0040283	ORPHA:974
57572	DOCK6	HP:0002059	Cerebral atrophy	HP:0040283	OMIM:614219
57572	DOCK6	HP:0003388	Easy fatigability	36/76	OMIM:131300
57572	DOCK6	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
57572	DOCK6	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:974
57572	DOCK6	HP:0002132	Porencephalic cyst	HP:0040283	ORPHA:974
57572	DOCK6	HP:0002126	Polymicrogyria	HP:0040283	OMIM:614219
57572	DOCK6	HP:0003577	Congenital onset	2/2	OMIM:614219
57572	DOCK6	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:974
57572	DOCK6	HP:0010624	Aplastic/hypoplastic toenail	HP:0040283	ORPHA:974
57572	DOCK6	HP:0003510	Severe short stature	7/7	OMIM:615777
57572	DOCK6	HP:0001057	Aplasia cutis congenita	2/2	OMIM:614219
57572	DOCK6	HP:0001057	Aplasia cutis congenita	HP:0040281	ORPHA:974
57572	DOCK6	HP:0002353	EEG abnormality	HP:0040283	ORPHA:974
57572	DOCK6	HP:0002315	Headache	-	OMIM:131300
57572	DOCK6	HP:0004976	Knee dislocation	6/7	OMIM:615777
57572	DOCK6	HP:0009803	Short phalanx of finger	-	OMIM:615777
57572	DOCK6	HP:0010760	Absent toe	HP:0040281	ORPHA:974
57572	DOCK6	HP:0009763	Limb pain	63/92	OMIM:131300
57572	DOCK6	HP:0004935	Pulmonary artery atresia	HP:0040282	ORPHA:974
57572	DOCK6	HP:0003621	Juvenile onset	-	OMIM:131300
57572	DOCK6	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
57572	DOCK6	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
57572	DOCK6	HP:6001056	Out-toeing	-	OMIM:131300
57572	DOCK6	HP:0000651	Diplopia	-	OMIM:131300
57572	DOCK6	HP:0000648	Optic atrophy	3/12	OMIM:614219
57572	DOCK6	HP:0001956	Truncal obesity	2/7	OMIM:615777
57572	DOCK6	HP:0001903	Anemia	HP:0040283	OMIM:131300
57572	DOCK6	HP:0010049	Short metacarpal	-	OMIM:615777
57572	DOCK6	HP:0011344	Severe global developmental delay	1/2	OMIM:614219
57572	DOCK6	HP:0000678	Dental crowding	-	OMIM:615777
57572	DOCK6	HP:0000670	Carious teeth	-	OMIM:131300
57572	DOCK6	HP:0011304	Broad thumb	2/7	OMIM:615777
57572	DOCK6	HP:0000668	Hypodontia	-	OMIM:615777
57572	DOCK6	HP:0000664	Synophrys	-	OMIM:615777
57572	DOCK6	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:974
57572	DOCK6	HP:0006956	Lateral ventricle dilatation	1/2	OMIM:614219
57572	DOCK6	HP:0006951	Retrocerebellar cyst	HP:0040283	OMIM:614219
57572	DOCK6	HP:0004396	Poor appetite	-	OMIM:131300
57572	DOCK6	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
57572	DOCK6	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
57572	DOCK6	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
57572	DOCK6	HP:0003026	Short long bone	7/7	OMIM:615777
57572	DOCK6	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
57572	DOCK6	HP:0000767	Pectus excavatum	2/7	OMIM:615777
57572	DOCK6	HP:0000768	Pectus carinatum	1/7	OMIM:615777
57572	DOCK6	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
57572	DOCK6	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:974
57572	DOCK6	HP:0000750	Delayed speech and language development	-	OMIM:615777
57572	DOCK6	HP:0000750	Delayed speech and language development	1/2	OMIM:614219
57572	DOCK6	HP:0011461	Fetal onset	7/7	OMIM:615777
57572	DOCK6	HP:0000774	Narrow chest	2/7	OMIM:615777
57572	DOCK6	HP:0000926	Platyspondyly	1/7	OMIM:615777
57572	DOCK6	HP:0003180	Flat acetabular roof	-	OMIM:615777
57572	DOCK6	HP:0004482	Relative macrocephaly	-	OMIM:615777
57572	DOCK6	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
57572	DOCK6	HP:0000823	Delayed puberty	-	OMIM:131300
57572	DOCK6	HP:0000894	Short clavicles	-	OMIM:615777
57572	DOCK6	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
57572	DOCK6	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
57572	DOCK6	HP:0000954	Single transverse palmar crease	-	OMIM:614219
57572	DOCK6	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:974
57572	DOCK6	HP:0000965	Cutis marmorata	-	OMIM:614219
57572	DOCK6	HP:0045025	Narrow palpebral fissure	-	OMIM:614219
57572	DOCK6	HP:0005807	Absent distal phalanges	2/2	OMIM:614219
57572	DOCK6	HP:0005819	Short middle phalanx of finger	1/2	OMIM:614219
57572	DOCK6	HP:0008070	Sparse hair	HP:0040281	ORPHA:974
57572	DOCK6	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:974
57572	DOCK6	HP:0000286	Epicanthus	1/7	OMIM:615777
57572	DOCK6	HP:0000280	Coarse facial features	2/7	OMIM:615777
57572	DOCK6	HP:0000294	Low anterior hairline	-	OMIM:614219
57572	DOCK6	HP:0001596	Alopecia	1/2	OMIM:614219
57572	DOCK6	HP:0001596	Alopecia	HP:0040283	ORPHA:974
57572	DOCK6	HP:0000256	Macrocephaly	HP:0040283	OMIM:614219
57572	DOCK6	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:974
57572	DOCK6	HP:0002814	Abnormality of the lower limb	HP:0040281	ORPHA:974
57572	DOCK6	HP:0002827	Hip dislocation	3/7	OMIM:615777
57572	DOCK6	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:974
57572	DOCK6	HP:0000238	Hydrocephalus	1/2	OMIM:614219
57572	DOCK6	HP:0000252	Microcephaly	1/2	OMIM:614219
57572	DOCK6	HP:0000252	Microcephaly	-	OMIM:615777
57572	DOCK6	HP:0001562	Oligohydramnios	1/2	OMIM:614219
57572	DOCK6	HP:0001558	Decreased fetal movement	1/2	OMIM:614219
57572	DOCK6	HP:0002857	Genu valgum	-	OMIM:131300
57572	DOCK6	HP:0001541	Ascites	HP:0040283	ORPHA:974
57572	DOCK6	HP:0001533	Slender build	-	OMIM:131300
57572	DOCK6	HP:0001508	Failure to thrive	HP:0040281	ORPHA:974
57572	DOCK6	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
57572	DOCK6	HP:0007807	Optic nerve compression	-	OMIM:131300
57572	DOCK6	HP:0012368	Flat face	7/7	OMIM:615777
57572	DOCK6	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
57572	DOCK6	HP:0000365	Hearing impairment	10/67	OMIM:131300
57572	DOCK6	HP:0000369	Low-set ears	-	OMIM:614219
57572	DOCK6	HP:0000343	Long philtrum	1/7	OMIM:615777
57572	DOCK6	HP:0011001	Increased bone mineral density	-	OMIM:131300
57572	DOCK6	HP:0000347	Micrognathia	-	OMIM:614219
57572	DOCK6	HP:0000316	Hypertelorism	-	OMIM:614219
57572	DOCK6	HP:0000311	Round face	2/7	OMIM:615777
57572	DOCK6	HP:0001622	Premature birth	HP:0040283	ORPHA:974
57572	DOCK6	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:974
57572	DOCK6	HP:0002970	Genu varum	-	OMIM:615777
57572	DOCK6	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:974
57572	DOCK6	HP:0000303	Mandibular prognathia	-	OMIM:131300
57572	DOCK6	HP:0004050	Absent hand	HP:0040281	ORPHA:974
57572	DOCK6	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
57572	DOCK6	HP:0005280	Depressed nasal bridge	-	OMIM:614219
57572	DOCK6	HP:0000486	Strabismus	HP:0040282	ORPHA:974
57572	DOCK6	HP:0000486	Strabismus	HP:0040283	OMIM:614219
57572	DOCK6	HP:0001792	Small nail	-	OMIM:614219
57572	DOCK6	HP:0000470	Short neck	1/7	OMIM:615777
57572	DOCK6	HP:0001769	Broad foot	HP:0040283	OMIM:615777
57572	DOCK6	HP:0001763	Pes planus	1/7	OMIM:615777
57572	DOCK6	HP:0000414	Bulbous nose	-	OMIM:614219
57572	DOCK6	HP:0000411	Protruding ear	HP:0040283	OMIM:614219
57572	DOCK6	HP:0000518	Cataract	HP:0040282	ORPHA:974
57572	DOCK6	HP:0000519	Developmental cataract	HP:0040283	OMIM:614219
57572	DOCK6	HP:0001840	Metatarsus adductus	-	OMIM:615777
57572	DOCK6	HP:0000520	Proptosis	2/4	OMIM:131300
57572	DOCK6	HP:0000520	Proptosis	7/7	OMIM:615777
57572	DOCK6	HP:0000505	Visual impairment	1/2	OMIM:614219
57572	DOCK6	HP:0001804	Hypoplastic fingernail	HP:0040283	ORPHA:974
57572	DOCK6	HP:0001817	Absent fingernail	HP:0040283	ORPHA:974
57572	DOCK6	HP:0000592	Blue sclerae	2/7	OMIM:615777
57572	DOCK6	HP:0000568	Microphthalmia	HP:0040283	OMIM:614219
57572	DOCK6	HP:0000568	Microphthalmia	HP:0040282	ORPHA:974
57572	DOCK6	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
57572	DOCK6	HP:0001883	Talipes	HP:0040282	ORPHA:974
57572	DOCK6	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:974
57572	DOCK6	HP:0012514	Lower limb pain	4/4	OMIM:131300
57572	DOCK6	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:974
57582	KCNT1	HP:0002445	Tetraplegia	-	OMIM:614959
57582	KCNT1	HP:0001290	Generalized hypotonia	4/8	OMIM:614959
57582	KCNT1	HP:0001276	Hypertonia	HP:0040283	ORPHA:293181
57582	KCNT1	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:293181
57582	KCNT1	HP:0025237	Confusional arousal	HP:0040283	ORPHA:98784
57582	KCNT1	HP:0025236	Somnambulism	HP:0040283	ORPHA:98784
57582	KCNT1	HP:0025235	NREM parasomnia	HP:0040284	ORPHA:98784
57582	KCNT1	HP:0001256	Intellectual disability, mild	HP:0040284	ORPHA:98784
57582	KCNT1	HP:0001252	Hypotonia	HP:0040282	ORPHA:293181
57582	KCNT1	HP:0001252	Hypotonia	12/12	OMIM:614959
57582	KCNT1	HP:0001249	Intellectual disability	6/15	OMIM:615005
57582	KCNT1	HP:0001257	Spasticity	-	OMIM:614959
57582	KCNT1	HP:0007359	Focal-onset seizure	-	OMIM:615005
57582	KCNT1	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:293181
57582	KCNT1	HP:0002540	Inability to walk	HP:0040281	ORPHA:293181
57582	KCNT1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:293181
57582	KCNT1	HP:0002529	Neuronal loss in central nervous system	-	OMIM:614959
57582	KCNT1	HP:0012075	Personality disorder	HP:0040283	OMIM:615005
57582	KCNT1	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:98784
57582	KCNT1	HP:0001345	Psychotic mentation	HP:0040284	ORPHA:98784
57582	KCNT1	HP:0001347	Hyperreflexia	-	OMIM:614959
57582	KCNT1	HP:0033725	Thin corpus callosum	3/8	OMIM:614959
57582	KCNT1	HP:0001344	Absent speech	2/8	OMIM:614959
57582	KCNT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615005
57582	KCNT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614959
57582	KCNT1	HP:0002650	Scoliosis	HP:0040283	ORPHA:293181
57582	KCNT1	HP:0008936	Axial hypotonia	4/8	OMIM:614959
57582	KCNT1	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:293181
57582	KCNT1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:98784
57582	KCNT1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:293181
57582	KCNT1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040284	ORPHA:98784
57582	KCNT1	HP:0002079	Hypoplasia of the corpus callosum	7/12	OMIM:614959
57582	KCNT1	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:293181
57582	KCNT1	HP:0002120	Cerebral cortical atrophy	3/8	OMIM:614959
57582	KCNT1	HP:0002133	Status epilepticus	HP:0040283	OMIM:615005
57582	KCNT1	HP:0002133	Status epilepticus	-	OMIM:614959
57582	KCNT1	HP:0002188	Delayed CNS myelination	3/8	OMIM:614959
57582	KCNT1	HP:0002169	Clonus	-	OMIM:614959
57582	KCNT1	HP:0002171	Gliosis	-	OMIM:614959
57582	KCNT1	HP:0002268	Paroxysmal dystonia	HP:0040282	ORPHA:98784
57582	KCNT1	HP:0002266	Focal clonic seizure	1/5	OMIM:614959
57582	KCNT1	HP:0003593	Infantile onset	4/8	OMIM:614959
57582	KCNT1	HP:0200134	Epileptic encephalopathy	8/8	OMIM:614959
57582	KCNT1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040284	ORPHA:98784
57582	KCNT1	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:293181
57582	KCNT1	HP:0002376	Developmental regression	HP:0040281	ORPHA:293181
57582	KCNT1	HP:0002376	Developmental regression	1/2	OMIM:614959
57582	KCNT1	HP:0003676	Progressive	-	OMIM:614959
57582	KCNT1	HP:0010841	Multifocal epileptiform discharges	HP:0040281	ORPHA:293181
57582	KCNT1	HP:0010821	Focal emotional seizure with laughing	HP:0040282	ORPHA:293181
57582	KCNT1	HP:0010818	Generalized tonic seizure	3/8	OMIM:614959
57582	KCNT1	HP:0003623	Neonatal onset	4/6	OMIM:614959
57582	KCNT1	HP:0003621	Juvenile onset	-	OMIM:615005
57582	KCNT1	HP:0031834	Aortopulmonary collateral arteries	HP:0040283	ORPHA:293181
57582	KCNT1	HP:0006813	Focal hemiclonic seizure	HP:0040282	ORPHA:293181
57582	KCNT1	HP:0031951	Nocturnal seizures	HP:0040281	ORPHA:98784
57582	KCNT1	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:293181
57582	KCNT1	HP:0004305	Involuntary movements	HP:0040282	ORPHA:98784
57582	KCNT1	HP:0006915	Inability to walk by childhood/adolescence	3/8	OMIM:614959
57582	KCNT1	HP:0012736	Profound global developmental delay	6/8	OMIM:614959
57582	KCNT1	HP:0000739	Anxiety	HP:0040283	ORPHA:98784
57582	KCNT1	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:98784
57582	KCNT1	HP:0000716	Depression	-	OMIM:615005
57582	KCNT1	HP:0000716	Depression	HP:0040283	ORPHA:98784
57582	KCNT1	HP:0000718	Aggressive behavior	HP:0040283	OMIM:615005
57582	KCNT1	HP:0000709	Psychosis	HP:0040283	OMIM:615005
57582	KCNT1	HP:0000708	Atypical behavior	10/15	OMIM:615005
57582	KCNT1	HP:0000708	Atypical behavior	HP:0040284	ORPHA:98784
57582	KCNT1	HP:0011463	Childhood onset	-	OMIM:615005
57582	KCNT1	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:293181
57582	KCNT1	HP:0000817	Reduced eye contact	HP:0040283	OMIM:614959
57582	KCNT1	HP:0000826	Precocious puberty	HP:0040284	ORPHA:293181
57582	KCNT1	HP:0000252	Microcephaly	HP:0040282	ORPHA:293181
57582	KCNT1	HP:0000252	Microcephaly	4/8	OMIM:614959
57582	KCNT1	HP:0002883	Hyperventilation	HP:0040283	ORPHA:98784
57582	KCNT1	HP:0032677	Generalized-onset motor seizure	1/1	OMIM:614959
57582	KCNT1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:293181
57582	KCNT1	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:293181
57582	KCNT1	HP:0031535	Increased theta frequency activity in EEG	HP:0040283	ORPHA:98784
57582	KCNT1	HP:0032773	Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole	2/8	OMIM:614959
57582	KCNT1	HP:0032794	Myoclonic seizure	HP:0040282	ORPHA:293181
57582	KCNT1	HP:0011193	EEG with focal spikes	HP:0040283	ORPHA:98784
57582	KCNT1	HP:0011182	Interictal epileptiform activity	HP:0040283	ORPHA:98784
57582	KCNT1	HP:0011182	Interictal epileptiform activity	2/2	OMIM:614959
57582	KCNT1	HP:0011169	Generalized clonic seizure	1/8	OMIM:614959
57582	KCNT1	HP:0011174	Focal hyperkinetic seizure	HP:0040283	ORPHA:98784
57582	KCNT1	HP:0011167	Focal tonic seizure	3/5	OMIM:614959
57582	KCNT1	HP:0011154	Focal autonomic seizure	5/12	OMIM:614959
57582	KCNT1	HP:0011153	Focal motor seizure	4/4	OMIM:614959
57582	KCNT1	HP:0012448	Delayed myelination	HP:0040283	ORPHA:293181
57582	KCNT1	HP:0012444	Brain atrophy	1/1	OMIM:614959
57582	KCNT1	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:98784
57582	KCNT1	HP:0000505	Visual impairment	HP:0040283	ORPHA:293181
57589	RIC1	HP:0008551	Microtia	5/8	OMIM:618761
57589	RIC1	HP:0001288	Gait disturbance	8/8	OMIM:618761
57589	RIC1	HP:0001249	Intellectual disability	8/8	OMIM:618761
57589	RIC1	HP:0001263	Global developmental delay	10/10	OMIM:618761
57589	RIC1	HP:0000023	Inguinal hernia	2/8	OMIM:618761
57589	RIC1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:199306
57589	RIC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618761
57589	RIC1	HP:0000175	Cleft palate	HP:0040282	ORPHA:199306
57589	RIC1	HP:0000175	Cleft palate	3/8	OMIM:618761
57589	RIC1	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:199306
57589	RIC1	HP:0410030	Cleft lip	5/8	OMIM:618761
57589	RIC1	HP:0006292	Abnormality of dental eruption	HP:0040281	ORPHA:199306
57589	RIC1	HP:0002033	Poor suck	HP:0040282	ORPHA:199306
57589	RIC1	HP:0002099	Asthma	5/8	OMIM:618761
57589	RIC1	HP:0200153	Agenesis of lateral incisor	HP:0040283	ORPHA:199306
57589	RIC1	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:199306
57589	RIC1	HP:0007018	Attention deficit hyperactivity disorder	7/8	OMIM:618761
57589	RIC1	HP:0002360	Sleep abnormality	3/8	OMIM:618761
57589	RIC1	HP:0009088	Speech articulation difficulties	HP:0040282	ORPHA:199306
57589	RIC1	HP:0000646	Amblyopia	3/8	OMIM:618761
57589	RIC1	HP:0000684	Delayed eruption of teeth	3/8	OMIM:618761
57589	RIC1	HP:0000692	Tooth malposition	4/8	OMIM:618761
57589	RIC1	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:199306
57589	RIC1	HP:0004395	Malnutrition	HP:0040283	ORPHA:199306
57589	RIC1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:199306
57589	RIC1	HP:0100337	Bilateral cleft palate	HP:0040283	ORPHA:199306
57589	RIC1	HP:0100334	Unilateral cleft palate	HP:0040282	ORPHA:199306
57589	RIC1	HP:0010294	Palate fistula	HP:0040283	ORPHA:199306
57589	RIC1	HP:0040196	Mild microcephaly	4/8	OMIM:618761
57589	RIC1	HP:0000286	Epicanthus	4/8	OMIM:618761
57589	RIC1	HP:0000276	Long face	6/8	OMIM:618761
57589	RIC1	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:199306
57589	RIC1	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:199306
57589	RIC1	HP:0011094	Increased overbite	2/8	OMIM:618761
57589	RIC1	HP:0012385	Camptodactyly	1/8	OMIM:618761
57589	RIC1	HP:0011044	Abnormal number of permanent teeth	HP:0040283	ORPHA:199306
57589	RIC1	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:199306
57589	RIC1	HP:0000343	Long philtrum	3/8	OMIM:618761
57589	RIC1	HP:0000327	Hypoplasia of the maxilla	HP:0040284	ORPHA:199306
57589	RIC1	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:199306
57589	RIC1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:199306
57589	RIC1	HP:0000486	Strabismus	5/8	OMIM:618761
57589	RIC1	HP:0000463	Anteverted nares	5/8	OMIM:618761
57589	RIC1	HP:0000519	Developmental cataract	7/8	OMIM:618761
57591	MRTFA	HP:0100806	Sepsis	1/1	OMIM:618847
57591	MRTFA	HP:0001287	Meningitis	1/1	OMIM:618847
57591	MRTFA	HP:0000007	Autosomal recessive inheritance	-	OMIM:618847
57591	MRTFA	HP:0410017	Otitis externa	1/1	OMIM:618847
57591	MRTFA	HP:0200039	Pustule	1/1	OMIM:618847
57591	MRTFA	HP:0001581	Recurrent skin infections	1/1	OMIM:618847
57591	MRTFA	HP:0031379	Abnormal T cell proliferation	1/1	OMIM:618847
57592	ZNF687	HP:0000006	Autosomal dominant inheritance	-	OMIM:616833
57592	ZNF687	HP:0002653	Bone pain	-	OMIM:616833
57592	ZNF687	HP:0000121	Nephrocalcinosis	HP:0040283	OMIM:616833
57592	ZNF687	HP:0002757	Recurrent fractures	-	OMIM:616833
57592	ZNF687	HP:0002758	Osteoarthritis	-	OMIM:616833
57592	ZNF687	HP:0003581	Adult onset	-	OMIM:616833
57592	ZNF687	HP:0003155	Elevated circulating alkaline phosphatase concentration	-	OMIM:616833
57592	ZNF687	HP:0001677	Coronary artery atherosclerosis	HP:0040283	OMIM:616833
57592	ZNF687	HP:0001712	Left ventricular hypertrophy	HP:0040283	OMIM:616833
57599	WDR48	HP:0001288	Gait disturbance	HP:0040282	ORPHA:401800
57599	WDR48	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:401800
57599	WDR48	HP:0001258	Spastic paraplegia	HP:0040282	ORPHA:401800
57599	WDR48	HP:0002509	Limb hypertonia	HP:0040282	ORPHA:401800
57599	WDR48	HP:0002064	Spastic gait	HP:0040282	ORPHA:401800
57599	WDR48	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:401800
57599	WDR48	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:401800
57599	WDR48	HP:0007002	Motor axonal neuropathy	HP:0040282	ORPHA:401800
57599	WDR48	HP:0000639	Nystagmus	HP:0040282	ORPHA:401800
57609	DIP2B	HP:0001250	Seizure	1/8	OMIM:136630
57609	DIP2B	HP:0001249	Intellectual disability	2/8	OMIM:136630
57609	DIP2B	HP:0001263	Global developmental delay	1/8	OMIM:136630
57609	DIP2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:136630
57609	DIP2B	HP:0002783	Recurrent lower respiratory tract infections	1/8	OMIM:136630
57609	DIP2B	HP:0003593	Infantile onset	1/1	OMIM:136630
57609	DIP2B	HP:0001019	Erythroderma	1/8	OMIM:136630
57609	DIP2B	HP:0000708	Atypical behavior	1/8	OMIM:136630
57609	DIP2B	HP:0000962	Hyperkeratosis	1/8	OMIM:136630
57619	SHROOM3	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
57619	SHROOM3	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
57619	SHROOM3	HP:0004467	Preauricular pit	-	OMIM:187500
57619	SHROOM3	HP:0000337	Broad forehead	-	OMIM:187500
57619	SHROOM3	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
57619	SHROOM3	HP:0000520	Proptosis	-	OMIM:187500
57623	ZFAT	HP:0100646	Thyroiditis	-	OMIM:608175
57639	CCDC146	HP:0000007	Autosomal recessive inheritance	-	OMIM:620850
57639	CCDC146	HP:0032558	Absent sperm flagella	2/2	OMIM:620850
57639	CCDC146	HP:0032559	Short sperm flagella	2/2	OMIM:620850
57639	CCDC146	HP:0032560	Coiled sperm flagella	2/2	OMIM:620850
57639	CCDC146	HP:0034011	Reduced progressive sperm motility	2/2	OMIM:620850
57639	CCDC146	HP:0011462	Young adult onset	2/2	OMIM:620850
57639	CCDC146	HP:0000798	Oligozoospermia	0/2	OMIM:620850
57639	CCDC146	HP:0003251	Male infertility	2/2	OMIM:620850
57639	CCDC146	HP:0034309	Multiflagellar spermatozoa	2/2	OMIM:620850
57639	CCDC146	HP:0012207	Reduced sperm motility	2/2	OMIM:620850
57647	DHX37	HP:0008633	Agonadism	HP:0040281	ORPHA:983
57647	DHX37	HP:0001250	Seizure	2/5	OMIM:618731
57647	DHX37	HP:0001263	Global developmental delay	5/5	OMIM:618731
57647	DHX37	HP:0008726	Hypoplasia of the vagina	HP:0040281	ORPHA:251510
57647	DHX37	HP:0008730	Female external genitalia in individual with 46,XY karyotype	HP:0040281	ORPHA:251510
57647	DHX37	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:251510
57647	DHX37	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:983
57647	DHX37	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:251510
57647	DHX37	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:983
57647	DHX37	HP:0008715	Testicular dysgenesis	HP:0040281	ORPHA:242
57647	DHX37	HP:0008723	Gonadal dysgenesis with female appearance, male	7/9	OMIM:273250
57647	DHX37	HP:0008665	Clitoral hypertrophy	HP:0040281	ORPHA:251510
57647	DHX37	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:251510
57647	DHX37	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:983
57647	DHX37	HP:0000058	Abnormal labia morphology	HP:0040281	ORPHA:251510
57647	DHX37	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:242
57647	DHX37	HP:0000045	Abnormal scrotum morphology	HP:0040281	ORPHA:251510
57647	DHX37	HP:0000037	Male pseudohermaphroditism	HP:0040281	ORPHA:983
57647	DHX37	HP:0000037	Male pseudohermaphroditism	HP:0040281	ORPHA:242
57647	DHX37	HP:0000054	Micropenis	HP:0040281	ORPHA:251510
57647	DHX37	HP:0000047	Hypospadias	HP:0040281	ORPHA:251510
57647	DHX37	HP:0000022	Abnormal male internal genitalia morphology	HP:0040281	ORPHA:983
57647	DHX37	HP:0000030	Testicular gonadoblastoma	HP:0040283	ORPHA:251510
57647	DHX37	HP:0001357	Plagiocephaly	2/5	OMIM:618731
57647	DHX37	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:251510
57647	DHX37	HP:0000027	Azoospermia	HP:0040281	ORPHA:251510
57647	DHX37	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040281	ORPHA:983
57647	DHX37	HP:0000007	Autosomal recessive inheritance	-	OMIM:618731
57647	DHX37	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:251510
57647	DHX37	HP:0000006	Autosomal dominant inheritance	-	OMIM:273250
57647	DHX37	HP:0002650	Scoliosis	2/5	OMIM:618731
57647	DHX37	HP:0001321	Cerebellar hypoplasia	1/5	OMIM:618731
57647	DHX37	HP:0031103	Decreased circulating antimullerian hormone circulation	-	OMIM:273250
57647	DHX37	HP:0000142	Abnormal vagina morphology	HP:0040281	ORPHA:251510
57647	DHX37	HP:0000144	Decreased fertility	HP:0040281	ORPHA:983
57647	DHX37	HP:0000150	Gonadoblastoma	HP:0040282	ORPHA:251510
57647	DHX37	HP:0000151	Aplasia of the uterus	-	OMIM:273250
57647	DHX37	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:242
57647	DHX37	HP:0000149	Ovarian gonadoblastoma	HP:0040283	ORPHA:251510
57647	DHX37	HP:0000133	Gonadal dysgenesis	HP:0040281	ORPHA:251510
57647	DHX37	HP:0000100	Nephrotic syndrome	HP:0040284	ORPHA:251510
57647	DHX37	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:251510
57647	DHX37	HP:0002714	Downturned corners of mouth	1/5	OMIM:618731
57647	DHX37	HP:0011800	Midface retrusion	1/5	OMIM:618731
57647	DHX37	HP:0008193	Primary gonadal insufficiency	HP:0040283	ORPHA:251510
57647	DHX37	HP:0008197	Absence of pubertal development	-	OMIM:273250
57647	DHX37	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:251510
57647	DHX37	HP:0010464	Streak ovary	HP:0040281	ORPHA:251510
57647	DHX37	HP:0010469	Absent testis	HP:0040281	ORPHA:983
57647	DHX37	HP:0010468	Aplasia/Hypoplasia of the testes	HP:0040281	ORPHA:983
57647	DHX37	HP:0002126	Polymicrogyria	2/5	OMIM:618731
57647	DHX37	HP:0002188	Delayed CNS myelination	1/5	OMIM:618731
57647	DHX37	HP:0008232	Elevated circulating follicle stimulating hormone level	-	OMIM:273250
57647	DHX37	HP:0008232	Elevated circulating follicle stimulating hormone level	HP:0040281	ORPHA:251510
57647	DHX37	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:251510
57647	DHX37	HP:0002215	Sparse axillary hair	HP:0040281	ORPHA:251510
57647	DHX37	HP:0002225	Sparse pubic hair	HP:0040281	ORPHA:251510
57647	DHX37	HP:0100779	Urogenital sinus anomaly	1/9	OMIM:273250
57647	DHX37	HP:0100779	Urogenital sinus anomaly	HP:0040281	ORPHA:251510
57647	DHX37	HP:0011969	Elevated circulating luteinizing hormone level	-	OMIM:273250
57647	DHX37	HP:0011969	Elevated circulating luteinizing hormone level	HP:0040281	ORPHA:251510
57647	DHX37	HP:0009804	Tooth agenesis	1/5	OMIM:618731
57647	DHX37	HP:0000639	Nystagmus	1/5	OMIM:618731
57647	DHX37	HP:0000618	Blindness	2/5	OMIM:618731
57647	DHX37	HP:0000602	Ophthalmoplegia	1/5	OMIM:618731
57647	DHX37	HP:0030680	Abnormal cardiovascular system morphology	HP:0040284	ORPHA:251510
57647	DHX37	HP:0000771	Gynecomastia	HP:0040281	ORPHA:251510
57647	DHX37	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:251510
57647	DHX37	HP:0000786	Primary amenorrhea	2/9	OMIM:273250
57647	DHX37	HP:0012870	Vanishing testis	-	OMIM:273250
57647	DHX37	HP:0012870	Vanishing testis	HP:0040281	ORPHA:251510
57647	DHX37	HP:0000868	Decreased fertility in females	HP:0040281	ORPHA:251510
57647	DHX37	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:251510
57647	DHX37	HP:0000846	Adrenal insufficiency	HP:0040283	ORPHA:251510
57647	DHX37	HP:0000815	Hypergonadotropic hypogonadism	HP:0040281	ORPHA:251510
57647	DHX37	HP:0000812	Abnormal internal genitalia	-	OMIM:273250
57647	DHX37	HP:0000812	Abnormal internal genitalia	HP:0040281	ORPHA:251510
57647	DHX37	HP:0000823	Delayed puberty	HP:0040282	ORPHA:251510
57647	DHX37	HP:0004558	Cervical platyspondyly	1/5	OMIM:618731
57647	DHX37	HP:0003251	Male infertility	HP:0040281	ORPHA:251510
57647	DHX37	HP:0000939	Osteoporosis	HP:0040281	ORPHA:251510
57647	DHX37	HP:0040171	Decreased serum testosterone concentration	-	OMIM:273250
57647	DHX37	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:251510
57647	DHX37	HP:0000271	Abnormality of the face	HP:0040283	ORPHA:983
57647	DHX37	HP:0012244	Abnormal sex determination	HP:0040281	ORPHA:251510
57647	DHX37	HP:0001572	Macrodontia	1/5	OMIM:618731
57647	DHX37	HP:0000252	Microcephaly	1/5	OMIM:618731
57647	DHX37	HP:0030048	Colpocephaly	1/5	OMIM:618731
57647	DHX37	HP:0000316	Hypertelorism	1/5	OMIM:618731
57647	DHX37	HP:0000322	Short philtrum	1/5	OMIM:618731
57647	DHX37	HP:0000324	Facial asymmetry	1/5	OMIM:618731
57647	DHX37	HP:0000307	Pointed chin	1/5	OMIM:618731
57647	DHX37	HP:0000486	Strabismus	1/5	OMIM:618731
57647	DHX37	HP:0012469	Infantile spasms	1/5	OMIM:618731
57647	DHX37	HP:0001792	Small nail	1/5	OMIM:618731
57647	DHX37	HP:0000463	Anteverted nares	1/5	OMIM:618731
57647	DHX37	HP:0000475	Broad neck	1/5	OMIM:618731
57647	DHX37	HP:0000411	Protruding ear	1/5	OMIM:618731
57647	DHX37	HP:0000508	Ptosis	1/5	OMIM:618731
57654	UVSSA	HP:0000007	Autosomal recessive inheritance	-	OMIM:614640
57654	UVSSA	HP:0001480	Freckling	-	OMIM:614640
57654	UVSSA	HP:0003593	Infantile onset	-	OMIM:614640
57654	UVSSA	HP:0001009	Telangiectasia	-	OMIM:614640
57654	UVSSA	HP:0003224	Increased cellular sensitivity to UV light	-	OMIM:614640
57654	UVSSA	HP:0000992	Cutaneous photosensitivity	-	OMIM:614640
57654	UVSSA	HP:0000958	Dry skin	-	OMIM:614640
57670	KIAA1549	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
57670	KIAA1549	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
57670	KIAA1549	HP:0025158	Hyperautofluorescent retinal lesion	-	OMIM:618613
57670	KIAA1549	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
57670	KIAA1549	HP:0000007	Autosomal recessive inheritance	-	OMIM:618613
57670	KIAA1549	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
57670	KIAA1549	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
57670	KIAA1549	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
57670	KIAA1549	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
57670	KIAA1549	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
57670	KIAA1549	HP:0003621	Juvenile onset	8/19	OMIM:180100
57670	KIAA1549	HP:0030505	Nummular pigmentation of the fundus	3/3	OMIM:618613
57670	KIAA1549	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
57670	KIAA1549	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
57670	KIAA1549	HP:0000618	Blindness	HP:0040281	ORPHA:791
57670	KIAA1549	HP:0000613	Photophobia	HP:0040281	ORPHA:791
57670	KIAA1549	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
57670	KIAA1549	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
57670	KIAA1549	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
57670	KIAA1549	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
57670	KIAA1549	HP:0000662	Nyctalopia	26/28	OMIM:180100
57670	KIAA1549	HP:0000662	Nyctalopia	3/3	OMIM:618613
57670	KIAA1549	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
57670	KIAA1549	HP:0100019	Cortical cataract	1/3	OMIM:618613
57670	KIAA1549	HP:0011463	Childhood onset	3/19	OMIM:180100
57670	KIAA1549	HP:0011462	Young adult onset	8/19	OMIM:180100
57670	KIAA1549	HP:0030786	Photopsia	HP:0040283	ORPHA:791
57670	KIAA1549	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
57670	KIAA1549	HP:0011505	Cystoid macular edema	1/3	OMIM:618613
57670	KIAA1549	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
57670	KIAA1549	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
57670	KIAA1549	HP:0007722	Retinal pigment epithelial atrophy	2/3	OMIM:618613
57670	KIAA1549	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
57670	KIAA1549	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
57670	KIAA1549	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
57670	KIAA1549	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
57670	KIAA1549	HP:0007737	Bone spicule pigmentation of the retina	3/3	OMIM:618613
57670	KIAA1549	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
57670	KIAA1549	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
57670	KIAA1549	HP:0007843	Attenuation of retinal blood vessels	3/3	OMIM:618613
57670	KIAA1549	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
57670	KIAA1549	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
57670	KIAA1549	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
57670	KIAA1549	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
57670	KIAA1549	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
57670	KIAA1549	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
57670	KIAA1549	HP:0000529	Progressive visual loss	3/3	OMIM:618613
57670	KIAA1549	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
57670	KIAA1549	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
57670	KIAA1549	HP:0000575	Scotoma	5/18	OMIM:180100
57670	KIAA1549	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
57670	KIAA1549	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
57670	KIAA1549	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
57670	KIAA1549	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
57670	KIAA1549	HP:0000543	Optic disc pallor	1/1	OMIM:180100
57670	KIAA1549	HP:0000543	Optic disc pallor	2/3	OMIM:618613
57670	KIAA1549	HP:0000545	Myopia	-	OMIM:180100
57674	RNF213	HP:0001250	Seizure	HP:0040282	ORPHA:2573
57674	RNF213	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2573
57674	RNF213	HP:0000007	Autosomal recessive inheritance	-	OMIM:607151
57674	RNF213	HP:0000006	Autosomal dominant inheritance	-	OMIM:607151
57674	RNF213	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2573
57674	RNF213	HP:0011834	Moyamoya phenomenon	-	OMIM:607151
57674	RNF213	HP:0001009	Telangiectasia	HP:0040281	ORPHA:2573
57674	RNF213	HP:0002326	Transient ischemic attack	-	OMIM:607151
57674	RNF213	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:2573
57679	ALS2	HP:0002483	Bulbar signs	HP:0040282	ORPHA:300605
57679	ALS2	HP:0001152	Saccadic smooth pursuit	-	OMIM:606353
57679	ALS2	HP:0002492	Abnormal corticospinal tract morphology	-	OMIM:607225
57679	ALS2	HP:0002491	Spasticity of facial muscles	-	OMIM:205100
57679	ALS2	HP:0002491	Spasticity of facial muscles	-	OMIM:606353
57679	ALS2	HP:0002464	Spastic dysarthria	-	OMIM:205100
57679	ALS2	HP:0002464	Spastic dysarthria	-	OMIM:606353
57679	ALS2	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:247604
57679	ALS2	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:300605
57679	ALS2	HP:0002460	Distal muscle weakness	1/3	OMIM:205100
57679	ALS2	HP:0002445	Tetraplegia	HP:0040281	ORPHA:293168
57679	ALS2	HP:0002445	Tetraplegia	-	OMIM:607225
57679	ALS2	HP:0007325	Generalized dystonia	1/3	OMIM:205100
57679	ALS2	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:247604
57679	ALS2	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:293168
57679	ALS2	HP:0002425	Anarthria	HP:0040283	ORPHA:300605
57679	ALS2	HP:0002425	Anarthria	2/3	OMIM:205100
57679	ALS2	HP:0002425	Anarthria	HP:0040281	ORPHA:293168
57679	ALS2	HP:0002425	Anarthria	15/15	OMIM:607225
57679	ALS2	HP:0003722	Neck flexor weakness	HP:0040283	ORPHA:300605
57679	ALS2	HP:0003701	Proximal muscle weakness	HP:0040283	ORPHA:300605
57679	ALS2	HP:0003701	Proximal muscle weakness	1/3	OMIM:205100
57679	ALS2	HP:0001276	Hypertonia	HP:0040282	ORPHA:300605
57679	ALS2	HP:0001276	Hypertonia	1/3	OMIM:205100
57679	ALS2	HP:0001270	Motor delay	-	OMIM:607225
57679	ALS2	HP:0002599	Head titubation	1/3	OMIM:205100
57679	ALS2	HP:0002599	Head titubation	HP:0040283	ORPHA:300605
57679	ALS2	HP:0001288	Gait disturbance	1/3	OMIM:205100
57679	ALS2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:300605
57679	ALS2	HP:0001285	Spastic tetraparesis	3/3	OMIM:606353
57679	ALS2	HP:0001285	Spastic tetraparesis	HP:0040281	ORPHA:247604
57679	ALS2	HP:0001285	Spastic tetraparesis	-	OMIM:205100
57679	ALS2	HP:0001251	Ataxia	1/3	OMIM:205100
57679	ALS2	HP:0001251	Ataxia	HP:0040283	ORPHA:300605
57679	ALS2	HP:0001264	Spastic diplegia	HP:0040282	ORPHA:300605
57679	ALS2	HP:0001264	Spastic diplegia	1/3	OMIM:205100
57679	ALS2	HP:0001260	Dysarthria	-	OMIM:205100
57679	ALS2	HP:0001260	Dysarthria	HP:0040281	ORPHA:293168
57679	ALS2	HP:0001260	Dysarthria	-	OMIM:607225
57679	ALS2	HP:0001263	Global developmental delay	1/3	OMIM:205100
57679	ALS2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:300605
57679	ALS2	HP:0001258	Spastic paraplegia	HP:0040281	ORPHA:293168
57679	ALS2	HP:0001258	Spastic paraplegia	15/15	OMIM:607225
57679	ALS2	HP:0001257	Spasticity	HP:0040281	ORPHA:247604
57679	ALS2	HP:0001257	Spasticity	3/3	OMIM:205100
57679	ALS2	HP:0001257	Spasticity	HP:0040281	ORPHA:293168
57679	ALS2	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:205100
57679	ALS2	HP:0007354	Amyotrophic lateral sclerosis	HP:0040281	ORPHA:300605
57679	ALS2	HP:0002540	Inability to walk	HP:0040282	ORPHA:300605
57679	ALS2	HP:0002544	Retrocollis	1/3	OMIM:205100
57679	ALS2	HP:0002544	Retrocollis	HP:0040283	ORPHA:300605
57679	ALS2	HP:0002530	Axial dystonia	HP:0040283	ORPHA:300605
57679	ALS2	HP:0002510	Spastic tetraplegia	HP:0040281	ORPHA:293168
57679	ALS2	HP:0002510	Spastic tetraplegia	15/15	OMIM:607225
57679	ALS2	HP:0002505	Loss of ambulation	2/3	OMIM:606353
57679	ALS2	HP:0002501	Spasticity of pharyngeal muscles	-	OMIM:205100
57679	ALS2	HP:0002501	Spasticity of pharyngeal muscles	-	OMIM:606353
57679	ALS2	HP:0012048	Oromandibular dystonia	HP:0040283	ORPHA:300605
57679	ALS2	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:300605
57679	ALS2	HP:0000020	Urinary incontinence	1/3	OMIM:205100
57679	ALS2	HP:0000020	Urinary incontinence	-	OMIM:607225
57679	ALS2	HP:0000014	Abnormality of the bladder	HP:0040283	ORPHA:247604
57679	ALS2	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:300605
57679	ALS2	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:247604
57679	ALS2	HP:0001347	Hyperreflexia	1/3	OMIM:205100
57679	ALS2	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:293168
57679	ALS2	HP:0001347	Hyperreflexia	-	OMIM:607225
57679	ALS2	HP:0001347	Hyperreflexia	3/3	OMIM:606353
57679	ALS2	HP:0001332	Dystonia	1/3	OMIM:205100
57679	ALS2	HP:0001332	Dystonia	HP:0040282	ORPHA:300605
57679	ALS2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:247604
57679	ALS2	HP:0001324	Muscle weakness	1/3	OMIM:205100
57679	ALS2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:300605
57679	ALS2	HP:0001324	Muscle weakness	15/15	OMIM:607225
57679	ALS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:606353
57679	ALS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:205100
57679	ALS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:607225
57679	ALS2	HP:0033747	Abnormal exteroceptive sensation	0/3	OMIM:205100
57679	ALS2	HP:0002650	Scoliosis	2/3	OMIM:205100
57679	ALS2	HP:0002650	Scoliosis	-	OMIM:607225
57679	ALS2	HP:0002650	Scoliosis	HP:0040283	ORPHA:300605
57679	ALS2	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:300605
57679	ALS2	HP:0001300	Parkinsonism	HP:0040283	ORPHA:300605
57679	ALS2	HP:0000183	Tongue muscle weakness	-	OMIM:205100
57679	ALS2	HP:0000183	Tongue muscle weakness	-	OMIM:606353
57679	ALS2	HP:0008944	Distal lower limb amyotrophy	1/3	OMIM:205100
57679	ALS2	HP:0002015	Dysphagia	HP:0040282	ORPHA:247604
57679	ALS2	HP:0002015	Dysphagia	-	OMIM:205100
57679	ALS2	HP:0002015	Dysphagia	HP:0040283	ORPHA:300605
57679	ALS2	HP:0002015	Dysphagia	15/15	OMIM:607225
57679	ALS2	HP:0002015	Dysphagia	-	OMIM:606353
57679	ALS2	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:300605
57679	ALS2	HP:0002064	Spastic gait	-	OMIM:606353
57679	ALS2	HP:0002064	Spastic gait	HP:0040281	ORPHA:247604
57679	ALS2	HP:0002064	Spastic gait	-	OMIM:205100
57679	ALS2	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:300605
57679	ALS2	HP:0002061	Lower limb spasticity	-	OMIM:205100
57679	ALS2	HP:0002072	Chorea	HP:0040283	ORPHA:300605
57679	ALS2	HP:0002141	Gait imbalance	HP:0040281	ORPHA:247604
57679	ALS2	HP:0003487	Babinski sign	1/3	OMIM:205100
57679	ALS2	HP:0003487	Babinski sign	-	OMIM:607225
57679	ALS2	HP:0003487	Babinski sign	3/3	OMIM:606353
57679	ALS2	HP:0002120	Cerebral cortical atrophy	-	OMIM:606353
57679	ALS2	HP:0002127	Abnormal upper motor neuron morphology	-	OMIM:205100
57679	ALS2	HP:0002127	Abnormal upper motor neuron morphology	-	OMIM:606353
57679	ALS2	HP:0002127	Abnormal upper motor neuron morphology	HP:0040281	ORPHA:247604
57679	ALS2	HP:0003429	CNS hypomyelination	HP:0040282	ORPHA:300605
57679	ALS2	HP:0003444	EMG: chronic denervation signs	-	OMIM:205100
57679	ALS2	HP:0002193	Pseudobulbar affect	-	OMIM:205100
57679	ALS2	HP:0002193	Pseudobulbar affect	HP:0040282	ORPHA:293168
57679	ALS2	HP:0002193	Pseudobulbar affect	-	OMIM:606353
57679	ALS2	HP:0002193	Pseudobulbar affect	HP:0040281	ORPHA:247604
57679	ALS2	HP:0002169	Clonus	HP:0040283	ORPHA:300605
57679	ALS2	HP:0002169	Clonus	1/3	OMIM:205100
57679	ALS2	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:300605
57679	ALS2	HP:0002167	Abnormal speech pattern	1/3	OMIM:205100
57679	ALS2	HP:0002179	Opisthotonus	HP:0040283	ORPHA:300605
57679	ALS2	HP:0002179	Opisthotonus	1/3	OMIM:205100
57679	ALS2	HP:0003593	Infantile onset	6/15	OMIM:607225
57679	ALS2	HP:0007024	Pseudobulbar paralysis	3/3	OMIM:606353
57679	ALS2	HP:0033383	Decreased compound muscle action potential amplitude	1/3	OMIM:606353
57679	ALS2	HP:0002366	Abnormal lower motor neuron morphology	-	OMIM:205100
57679	ALS2	HP:0002366	Abnormal lower motor neuron morphology	-	OMIM:607225
57679	ALS2	HP:0003693	Distal amyotrophy	HP:0040281	ORPHA:300605
57679	ALS2	HP:0003693	Distal amyotrophy	-	OMIM:205100
57679	ALS2	HP:0002371	Loss of speech	HP:0040282	ORPHA:247604
57679	ALS2	HP:0003676	Progressive	-	OMIM:205100
57679	ALS2	HP:0003676	Progressive	-	OMIM:607225
57679	ALS2	HP:0003677	Slowly progressive	-	OMIM:606353
57679	ALS2	HP:0003677	Slowly progressive	-	OMIM:607225
57679	ALS2	HP:0002307	Drooling	-	OMIM:205100
57679	ALS2	HP:0000639	Nystagmus	1/3	OMIM:205100
57679	ALS2	HP:0000639	Nystagmus	HP:0040283	ORPHA:300605
57679	ALS2	HP:0000605	Supranuclear gaze palsy	HP:0040283	ORPHA:300605
57679	ALS2	HP:0004322	Short stature	1/3	OMIM:205100
57679	ALS2	HP:0006986	Upper limb spasticity	-	OMIM:205100
57679	ALS2	HP:0006986	Upper limb spasticity	HP:0040281	ORPHA:300605
57679	ALS2	HP:0004326	Cachexia	HP:0040283	ORPHA:300605
57679	ALS2	HP:0031960	Arm dystonia	1/3	OMIM:205100
57679	ALS2	HP:0031960	Arm dystonia	HP:0040282	ORPHA:300605
57679	ALS2	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:300605
57679	ALS2	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:247604
57679	ALS2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:300605
57679	ALS2	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:300605
57679	ALS2	HP:0011463	Childhood onset	3/3	OMIM:205100
57679	ALS2	HP:0011463	Childhood onset	9/15	OMIM:607225
57679	ALS2	HP:0011463	Childhood onset	3/3	OMIM:606353
57679	ALS2	HP:0009130	Hand muscle atrophy	-	OMIM:205100
57679	ALS2	HP:0003121	Limb joint contracture	2/3	OMIM:205100
57679	ALS2	HP:0005750	Lower-limb joint contracture	HP:0040282	ORPHA:300605
57679	ALS2	HP:0100360	Upper-limb joint contracture	HP:0040282	ORPHA:300605
57679	ALS2	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:247604
57679	ALS2	HP:0003202	Skeletal muscle atrophy	1/3	OMIM:205100
57679	ALS2	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:300605
57679	ALS2	HP:0000980	Pallor	-	OMIM:606353
57679	ALS2	HP:0034353	Appendicular spasticity	3/3	OMIM:606353
57679	ALS2	HP:0100291	Delayed somatosensory central conduction time	0/1	OMIM:205100
57679	ALS2	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:300605
57679	ALS2	HP:0000271	Abnormality of the face	-	OMIM:607225
57679	ALS2	HP:0000252	Microcephaly	2/3	OMIM:205100
57679	ALS2	HP:0000252	Microcephaly	HP:0040283	ORPHA:300605
57679	ALS2	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:300605
57679	ALS2	HP:0030051	Tip-toe gait	1/3	OMIM:205100
57679	ALS2	HP:0005216	Impaired mastication	HP:0040281	ORPHA:293168
57679	ALS2	HP:0005216	Impaired mastication	-	OMIM:607225
57679	ALS2	HP:0000478	Abnormality of the eye	-	OMIM:607225
57679	ALS2	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:293168
57679	ALS2	HP:0025747	Tongue spasticity	-	OMIM:606353
57679	ALS2	HP:0001771	Achilles tendon contracture	-	OMIM:607225
57679	ALS2	HP:0001761	Pes cavus	-	OMIM:607225
57679	ALS2	HP:0000514	Slow saccadic eye movements	25/25	OMIM:607225
57680	CHD8	HP:0002451	Limb dystonia	4/5	OMIM:615032
57680	CHD8	HP:0007325	Generalized dystonia	2/4	OMIM:615032
57680	CHD8	HP:0010864	Intellectual disability, severe	6/43	OMIM:615032
57680	CHD8	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:261229
57680	CHD8	HP:0001270	Motor delay	15/18	OMIM:615032
57680	CHD8	HP:0001256	Intellectual disability, mild	14/44	OMIM:615032
57680	CHD8	HP:0001250	Seizure	HP:0040283	ORPHA:261229
57680	CHD8	HP:0001250	Seizure	7/17	OMIM:615032
57680	CHD8	HP:0001252	Hypotonia	9/39	OMIM:615032
57680	CHD8	HP:0001249	Intellectual disability	HP:0040282	ORPHA:261229
57680	CHD8	HP:0001249	Intellectual disability	3/3	OMIM:615032
57680	CHD8	HP:0002591	Polyphagia	HP:0040282	ORPHA:261229
57680	CHD8	HP:0001263	Global developmental delay	1/1	OMIM:615032
57680	CHD8	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:261229
57680	CHD8	HP:0000098	Tall stature	22/38	OMIM:615032
57680	CHD8	HP:0025352	Typically de novo	-	OMIM:615032
57680	CHD8	HP:0000053	Macroorchidism	2/3	OMIM:615032
57680	CHD8	HP:0001350	Slurred speech	HP:0040283	ORPHA:261229
57680	CHD8	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:261229
57680	CHD8	HP:0000006	Autosomal dominant inheritance	-	OMIM:615032
57680	CHD8	HP:0012171	Stereotypical hand wringing	4/5	OMIM:615032
57680	CHD8	HP:0000194	Open mouth	1/1	OMIM:615032
57680	CHD8	HP:0002021	Pyloric stenosis	1/10	OMIM:615032
57680	CHD8	HP:0002019	Constipation	12/28	OMIM:615032
57680	CHD8	HP:0002037	Inflammation of the large intestine	1/16	OMIM:615032
57680	CHD8	HP:0002014	Diarrhea	4/17	OMIM:615032
57680	CHD8	HP:0002119	Ventriculomegaly	4/16	OMIM:615032
57680	CHD8	HP:0002187	Intellectual disability, profound	1/43	OMIM:615032
57680	CHD8	HP:0010529	Echolalia	1/1	OMIM:615032
57680	CHD8	HP:0011856	Pica	1/1	OMIM:615032
57680	CHD8	HP:0002263	Exaggerated cupid's bow	HP:0040283	ORPHA:261229
57680	CHD8	HP:0003593	Infantile onset	7/12	OMIM:615032
57680	CHD8	HP:0100716	Self-injurious behavior	5/11	OMIM:615032
57680	CHD8	HP:0032012	Heterotropia	2/12	OMIM:615032
57680	CHD8	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:261229
57680	CHD8	HP:0007018	Attention deficit hyperactivity disorder	7/33	OMIM:615032
57680	CHD8	HP:0011968	Feeding difficulties	1/2	OMIM:615032
57680	CHD8	HP:0001065	Striae distensae	1/10	OMIM:615032
57680	CHD8	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:261229
57680	CHD8	HP:0002360	Sleep abnormality	6/6	OMIM:615032
57680	CHD8	HP:0002376	Developmental regression	10/20	OMIM:615032
57680	CHD8	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/15	OMIM:615032
57680	CHD8	HP:0002342	Intellectual disability, moderate	14/43	OMIM:615032
57680	CHD8	HP:0002356	Writer's cramp	2/4	OMIM:615032
57680	CHD8	HP:0002312	Clumsiness	1/1	OMIM:615032
57680	CHD8	HP:0004209	Clinodactyly of the 5th finger	1/10	OMIM:615032
57680	CHD8	HP:0006855	Cerebellar vermis atrophy	2/5	OMIM:615032
57680	CHD8	HP:0031874	Late chronotype	1/1	OMIM:615032
57680	CHD8	HP:4000081	Reduced production of gestures	1/1	OMIM:615032
57680	CHD8	HP:0006889	Intellectual disability, borderline	5/37	OMIM:615032
57680	CHD8	HP:4000073	Pronoun reversal	1/1	OMIM:615032
57680	CHD8	HP:0000666	Horizontal nystagmus	HP:0040283	ORPHA:261229
57680	CHD8	HP:0400000	Tall chin	3/7	OMIM:615032
57680	CHD8	HP:0011410	Caesarean section	4/12	OMIM:615032
57680	CHD8	HP:0100021	Cerebral palsy	1/16	OMIM:615032
57680	CHD8	HP:0100023	Recurrent hand flapping	1/1	OMIM:615032
57680	CHD8	HP:0100033	Tics	1/15	OMIM:615032
57680	CHD8	HP:0000739	Anxiety	11/30	OMIM:615032
57680	CHD8	HP:0000736	Short attention span	6/6	OMIM:615032
57680	CHD8	HP:0000750	Delayed speech and language development	15/17	OMIM:615032
57680	CHD8	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:261229
57680	CHD8	HP:0000716	Depression	2/24	OMIM:615032
57680	CHD8	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:261229
57680	CHD8	HP:0000717	Autism	HP:0040283	ORPHA:261229
57680	CHD8	HP:0000717	Autism	33/43	OMIM:615032
57680	CHD8	HP:0000709	Psychosis	3/26	OMIM:615032
57680	CHD8	HP:0011463	Childhood onset	2/3	OMIM:615032
57680	CHD8	HP:0011462	Young adult onset	1/3	OMIM:615032
57680	CHD8	HP:0011461	Fetal onset	3/4	OMIM:615032
57680	CHD8	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:261229
57680	CHD8	HP:0012760	Reduced social responsiveness	3/10	OMIM:615032
57680	CHD8	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:261229
57680	CHD8	HP:0000821	Hypothyroidism	2/10	OMIM:615032
57680	CHD8	HP:5200018	Stereotypic upper-extremity movements	1/1	OMIM:615032
57680	CHD8	HP:0003270	Abdominal distention	1/16	OMIM:615032
57680	CHD8	HP:0000957	Cafe-au-lait spot	1/10	OMIM:615032
57680	CHD8	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:261229
57680	CHD8	HP:0000286	Epicanthus	HP:0040283	ORPHA:261229
57680	CHD8	HP:0000278	Retrognathia	1/10	OMIM:615032
57680	CHD8	HP:0000256	Macrocephaly	33/46	OMIM:615032
57680	CHD8	HP:0002808	Kyphosis	1/10	OMIM:615032
57680	CHD8	HP:0000252	Microcephaly	HP:0040282	ORPHA:261229
57680	CHD8	HP:0001561	Polyhydramnios	2/10	OMIM:615032
57680	CHD8	HP:0025502	Overweight	3/20	OMIM:615032
57680	CHD8	HP:0031354	Sleep onset insomnia	11/24	OMIM:615032
57680	CHD8	HP:0001513	Obesity	HP:0040282	ORPHA:261229
57680	CHD8	HP:0002904	Hyperbilirubinemia	3/10	OMIM:615032
57680	CHD8	HP:0000358	Posteriorly rotated ears	1/1	OMIM:615032
57680	CHD8	HP:0000343	Long philtrum	1/1	OMIM:615032
57680	CHD8	HP:0000337	Broad forehead	4/4	OMIM:615032
57680	CHD8	HP:0000336	Prominent supraorbital ridges	29/40	OMIM:615032
57680	CHD8	HP:0000347	Micrognathia	HP:0040283	ORPHA:261229
57680	CHD8	HP:0000319	Smooth philtrum	1/1	OMIM:615032
57680	CHD8	HP:0000316	Hypertelorism	11/18	OMIM:615032
57680	CHD8	HP:0000316	Hypertelorism	HP:0040283	ORPHA:261229
57680	CHD8	HP:0000307	Pointed chin	11/11	OMIM:615032
57680	CHD8	HP:0000303	Mandibular prognathia	1/6	OMIM:615032
57680	CHD8	HP:0000400	Macrotia	5/14	OMIM:615032
57680	CHD8	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:261229
57680	CHD8	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:615032
57680	CHD8	HP:0001763	Pes planus	4/19	OMIM:615032
57680	CHD8	HP:0000445	Wide nose	15/15	OMIM:615032
57680	CHD8	HP:0000431	Wide nasal bridge	1/1	OMIM:615032
57680	CHD8	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:261229
57680	CHD8	HP:0000508	Ptosis	1/1	OMIM:615032
57680	CHD8	HP:0000565	Esotropia	1/10	OMIM:615032
57688	ZSWIM6	HP:0001177	Preaxial hand polydactyly	0/6	OMIM:603671
57688	ZSWIM6	HP:0001159	Syndactyly	-	OMIM:603671
57688	ZSWIM6	HP:0002435	Meningocele	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0009928	Thick nasal alae	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
57688	ZSWIM6	HP:0001293	Cranial nerve compression	-	OMIM:131300
57688	ZSWIM6	HP:0001276	Hypertonia	2/7	OMIM:617865
57688	ZSWIM6	HP:0025247	Dermoid cyst	HP:0040284	ORPHA:1827
57688	ZSWIM6	HP:0001274	Agenesis of corpus callosum	1/5	OMIM:603671
57688	ZSWIM6	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0001270	Motor delay	7/7	OMIM:617865
57688	ZSWIM6	HP:0001250	Seizure	-	OMIM:603671
57688	ZSWIM6	HP:0001250	Seizure	HP:0040283	ORPHA:1827
57688	ZSWIM6	HP:0001252	Hypotonia	7/7	OMIM:617865
57688	ZSWIM6	HP:0001252	Hypotonia	2/7	OMIM:615777
57688	ZSWIM6	HP:0001251	Ataxia	5/7	OMIM:617865
57688	ZSWIM6	HP:0001249	Intellectual disability	-	OMIM:603671
57688	ZSWIM6	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0001249	Intellectual disability	7/7	OMIM:617865
57688	ZSWIM6	HP:0001249	Intellectual disability	5/7	OMIM:615777
57688	ZSWIM6	HP:0001265	Hyporeflexia	1/7	OMIM:617865
57688	ZSWIM6	HP:0001263	Global developmental delay	6/7	OMIM:603671
57688	ZSWIM6	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0001263	Global developmental delay	7/7	OMIM:617865
57688	ZSWIM6	HP:0001263	Global developmental delay	-	OMIM:615777
57688	ZSWIM6	HP:0032388	Periventricular nodular heterotopia	1/4	OMIM:603671
57688	ZSWIM6	HP:0002553	Highly arched eyebrow	-	OMIM:617865
57688	ZSWIM6	HP:0002515	Waddling gait	54/102	OMIM:131300
57688	ZSWIM6	HP:0001382	Joint hypermobility	-	OMIM:615777
57688	ZSWIM6	HP:0002697	Parietal foramina	4/8	OMIM:603671
57688	ZSWIM6	HP:0002694	Sclerosis of skull base	-	OMIM:131300
57688	ZSWIM6	HP:0002690	Large sella turcica	HP:0040283	ORPHA:1827
57688	ZSWIM6	HP:0002690	Large sella turcica	3/4	OMIM:603671
57688	ZSWIM6	HP:6000787	Basilar artery fenestration	-	OMIM:603671
57688	ZSWIM6	HP:0000028	Cryptorchidism	2/4	OMIM:603671
57688	ZSWIM6	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1827
57688	ZSWIM6	HP:0008897	Postnatal growth retardation	-	OMIM:615777
57688	ZSWIM6	HP:0001331	Absent septum pellucidum	1/4	OMIM:603671
57688	ZSWIM6	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
57688	ZSWIM6	HP:0001324	Muscle weakness	40/96	OMIM:131300
57688	ZSWIM6	HP:0001344	Absent speech	6/7	OMIM:617865
57688	ZSWIM6	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
57688	ZSWIM6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
57688	ZSWIM6	HP:0000006	Autosomal dominant inheritance	-	OMIM:617865
57688	ZSWIM6	HP:0000006	Autosomal dominant inheritance	-	OMIM:603671
57688	ZSWIM6	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
57688	ZSWIM6	HP:0002650	Scoliosis	12/14	OMIM:131300
57688	ZSWIM6	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
57688	ZSWIM6	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
57688	ZSWIM6	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
57688	ZSWIM6	HP:0032466	Aplasia of the olfactory bulb	2/2	OMIM:603671
57688	ZSWIM6	HP:0012172	Stereotypical body rocking	1/7	OMIM:617865
57688	ZSWIM6	HP:0000194	Open mouth	-	OMIM:617865
57688	ZSWIM6	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
57688	ZSWIM6	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:1827
57688	ZSWIM6	HP:0000175	Cleft palate	1/4	OMIM:603671
57688	ZSWIM6	HP:0000175	Cleft palate	2/7	OMIM:615777
57688	ZSWIM6	HP:0000154	Wide mouth	HP:0040283	ORPHA:1827
57688	ZSWIM6	HP:0008936	Axial hypotonia	2/7	OMIM:617865
57688	ZSWIM6	HP:0006288	Advanced eruption of teeth	2/7	OMIM:617865
57688	ZSWIM6	HP:0002781	Upper airway obstruction	HP:0040283	ORPHA:1827
57688	ZSWIM6	HP:0002781	Upper airway obstruction	HP:0040283	OMIM:603671
57688	ZSWIM6	HP:0002714	Downturned corners of mouth	-	OMIM:617865
57688	ZSWIM6	HP:0002020	Gastroesophageal reflux	4/7	OMIM:617865
57688	ZSWIM6	HP:0002019	Constipation	-	OMIM:617865
57688	ZSWIM6	HP:0040326	Hypoplasia of the olfactory bulb	HP:0040282	ORPHA:1827
57688	ZSWIM6	HP:0011819	Submucous cleft soft palate	1/4	OMIM:603671
57688	ZSWIM6	HP:0011803	Bifid nose	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0011803	Bifid nose	8/9	OMIM:603671
57688	ZSWIM6	HP:0002084	Encephalocele	11/19	OMIM:603671
57688	ZSWIM6	HP:0002084	Encephalocele	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0002079	Hypoplasia of the corpus callosum	1/4	OMIM:603671
57688	ZSWIM6	HP:0002056	Abnormality of the glabella	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0003388	Easy fatigability	36/76	OMIM:131300
57688	ZSWIM6	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
57688	ZSWIM6	HP:0002120	Cerebral cortical atrophy	1/7	OMIM:617865
57688	ZSWIM6	HP:0002119	Ventriculomegaly	2/4	OMIM:603671
57688	ZSWIM6	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:1827
57688	ZSWIM6	HP:0002136	Broad-based gait	-	OMIM:617865
57688	ZSWIM6	HP:0002191	Progressive spasticity	3/7	OMIM:617865
57688	ZSWIM6	HP:0002190	Choroid plexus cyst	HP:0040282	ORPHA:1827
57688	ZSWIM6	HP:0002190	Choroid plexus cyst	2/4	OMIM:603671
57688	ZSWIM6	HP:0010559	Vertical clivus	4/4	OMIM:603671
57688	ZSWIM6	HP:6000295	Persistent falcine venous sinus	-	OMIM:603671
57688	ZSWIM6	HP:0011856	Pica	2/7	OMIM:617865
57688	ZSWIM6	HP:0003593	Infantile onset	7/7	OMIM:617865
57688	ZSWIM6	HP:0003577	Congenital onset	8/8	OMIM:603671
57688	ZSWIM6	HP:0100703	Tongue thrusting	1/7	OMIM:617865
57688	ZSWIM6	HP:0002282	Gray matter heterotopia	-	OMIM:603671
57688	ZSWIM6	HP:0011968	Feeding difficulties	-	OMIM:617865
57688	ZSWIM6	HP:0010627	Anterior pituitary hypoplasia	HP:0040283	ORPHA:1827
57688	ZSWIM6	HP:0003510	Severe short stature	7/7	OMIM:615777
57688	ZSWIM6	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0002389	Cavum septum pellucidum	1/4	OMIM:603671
57688	ZSWIM6	HP:0002317	Unsteady gait	6/6	OMIM:617865
57688	ZSWIM6	HP:0002315	Headache	-	OMIM:131300
57688	ZSWIM6	HP:0004976	Knee dislocation	6/7	OMIM:615777
57688	ZSWIM6	HP:0004987	Mesomelic leg shortening	1/1	OMIM:603671
57688	ZSWIM6	HP:0010806	U-Shaped upper lip vermilion	2/4	OMIM:603671
57688	ZSWIM6	HP:0100629	Midline facial cleft	5/5	OMIM:603671
57688	ZSWIM6	HP:0009803	Short phalanx of finger	-	OMIM:615777
57688	ZSWIM6	HP:0010761	Broad columella	-	OMIM:617865
57688	ZSWIM6	HP:0009763	Limb pain	63/92	OMIM:131300
57688	ZSWIM6	HP:0003621	Juvenile onset	-	OMIM:131300
57688	ZSWIM6	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
57688	ZSWIM6	HP:0006866	Midline central nervous system lipomas	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0006866	Midline central nervous system lipomas	6/8	OMIM:603671
57688	ZSWIM6	HP:0009099	Median cleft palate	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
57688	ZSWIM6	HP:6001056	Out-toeing	-	OMIM:131300
57688	ZSWIM6	HP:0000651	Diplopia	-	OMIM:131300
57688	ZSWIM6	HP:0001956	Truncal obesity	2/7	OMIM:615777
57688	ZSWIM6	HP:0000609	Optic nerve hypoplasia	1/3	OMIM:603671
57688	ZSWIM6	HP:0001903	Anemia	HP:0040283	OMIM:131300
57688	ZSWIM6	HP:0034014	Tubulonodular pericallosal lipoma	4/4	OMIM:603671
57688	ZSWIM6	HP:0010049	Short metacarpal	-	OMIM:615777
57688	ZSWIM6	HP:0000678	Dental crowding	-	OMIM:615777
57688	ZSWIM6	HP:0000687	Widely spaced teeth	-	OMIM:617865
57688	ZSWIM6	HP:0000670	Carious teeth	-	OMIM:131300
57688	ZSWIM6	HP:0011304	Broad thumb	2/7	OMIM:615777
57688	ZSWIM6	HP:0000668	Hypodontia	-	OMIM:615777
57688	ZSWIM6	HP:0000664	Synophrys	-	OMIM:615777
57688	ZSWIM6	HP:0006951	Retrocerebellar cyst	HP:0040283	ORPHA:1827
57688	ZSWIM6	HP:0006951	Retrocerebellar cyst	1/4	OMIM:603671
57688	ZSWIM6	HP:0004396	Poor appetite	-	OMIM:131300
57688	ZSWIM6	HP:0003065	Patellar hypoplasia	HP:0040283	ORPHA:1827
57688	ZSWIM6	HP:0003065	Patellar hypoplasia	3/3	OMIM:603671
57688	ZSWIM6	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
57688	ZSWIM6	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
57688	ZSWIM6	HP:0034199	Late first trimester onset	1/1	OMIM:603671
57688	ZSWIM6	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
57688	ZSWIM6	HP:0003026	Short long bone	7/7	OMIM:615777
57688	ZSWIM6	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
57688	ZSWIM6	HP:0031936	Delayed ability to walk	-	OMIM:617865
57688	ZSWIM6	HP:0000752	Hyperactivity	4/7	OMIM:617865
57688	ZSWIM6	HP:0000767	Pectus excavatum	2/7	OMIM:615777
57688	ZSWIM6	HP:0000768	Pectus carinatum	1/7	OMIM:615777
57688	ZSWIM6	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
57688	ZSWIM6	HP:0100033	Tics	1/7	OMIM:617865
57688	ZSWIM6	HP:0000750	Delayed speech and language development	-	OMIM:615777
57688	ZSWIM6	HP:0000729	Autistic behavior	5/7	OMIM:617865
57688	ZSWIM6	HP:0011461	Fetal onset	7/7	OMIM:615777
57688	ZSWIM6	HP:0000774	Narrow chest	2/7	OMIM:615777
57688	ZSWIM6	HP:0005772	Aplasia/Hypoplasia of the tibia	HP:0040283	ORPHA:1827
57688	ZSWIM6	HP:0005736	Short tibia	3/4	OMIM:603671
57688	ZSWIM6	HP:0003196	Short nose	-	OMIM:617865
57688	ZSWIM6	HP:0000926	Platyspondyly	1/7	OMIM:615777
57688	ZSWIM6	HP:0003180	Flat acetabular roof	-	OMIM:615777
57688	ZSWIM6	HP:0004482	Relative macrocephaly	-	OMIM:615777
57688	ZSWIM6	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
57688	ZSWIM6	HP:0000823	Delayed puberty	-	OMIM:131300
57688	ZSWIM6	HP:0040075	Hypopituitarism	HP:0040283	ORPHA:1827
57688	ZSWIM6	HP:0040075	Hypopituitarism	2/3	OMIM:603671
57688	ZSWIM6	HP:0040082	Happy demeanor	7/7	OMIM:617865
57688	ZSWIM6	HP:0000894	Short clavicles	-	OMIM:615777
57688	ZSWIM6	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
57688	ZSWIM6	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
57688	ZSWIM6	HP:0000286	Epicanthus	1/7	OMIM:615777
57688	ZSWIM6	HP:0000280	Coarse facial features	2/7	OMIM:615777
57688	ZSWIM6	HP:0000280	Coarse facial features	2/3	OMIM:617865
57688	ZSWIM6	HP:0000256	Macrocephaly	1/7	OMIM:617865
57688	ZSWIM6	HP:0002827	Hip dislocation	3/7	OMIM:615777
57688	ZSWIM6	HP:0000239	Large fontanelles	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0000253	Progressive microcephaly	3/7	OMIM:617865
57688	ZSWIM6	HP:0000252	Microcephaly	-	OMIM:615777
57688	ZSWIM6	HP:0000248	Brachycephaly	-	OMIM:603671
57688	ZSWIM6	HP:0000248	Brachycephaly	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0000232	Everted lower lip vermilion	-	OMIM:617865
57688	ZSWIM6	HP:0002857	Genu valgum	-	OMIM:131300
57688	ZSWIM6	HP:0001533	Slender build	-	OMIM:131300
57688	ZSWIM6	HP:0000204	Cleft upper lip	-	OMIM:603671
57688	ZSWIM6	HP:0001508	Failure to thrive	2/7	OMIM:617865
57688	ZSWIM6	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
57688	ZSWIM6	HP:0007807	Optic nerve compression	-	OMIM:131300
57688	ZSWIM6	HP:0012368	Flat face	7/7	OMIM:615777
57688	ZSWIM6	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
57688	ZSWIM6	HP:0000365	Hearing impairment	10/67	OMIM:131300
57688	ZSWIM6	HP:0000369	Low-set ears	1/9	OMIM:603671
57688	ZSWIM6	HP:0000343	Long philtrum	1/7	OMIM:615777
57688	ZSWIM6	HP:0011001	Increased bone mineral density	-	OMIM:131300
57688	ZSWIM6	HP:0000336	Prominent supraorbital ridges	2/7	OMIM:617865
57688	ZSWIM6	HP:0000316	Hypertelorism	9/9	OMIM:603671
57688	ZSWIM6	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0000311	Round face	2/7	OMIM:615777
57688	ZSWIM6	HP:0002970	Genu varum	-	OMIM:615777
57688	ZSWIM6	HP:0000303	Mandibular prognathia	-	OMIM:131300
57688	ZSWIM6	HP:0007968	Remnants of the hyaloid vascular system	1/3	OMIM:603671
57688	ZSWIM6	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
57688	ZSWIM6	HP:0005280	Depressed nasal bridge	-	OMIM:617865
57688	ZSWIM6	HP:0000486	Strabismus	1/7	OMIM:617865
57688	ZSWIM6	HP:0000494	Downslanted palpebral fissures	3/4	OMIM:603671
57688	ZSWIM6	HP:0000455	Broad nasal tip	-	OMIM:603671
57688	ZSWIM6	HP:0000455	Broad nasal tip	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0000456	Bifid nasal tip	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0000456	Bifid nasal tip	-	OMIM:603671
57688	ZSWIM6	HP:0000470	Short neck	1/7	OMIM:615777
57688	ZSWIM6	HP:0001769	Broad foot	HP:0040283	OMIM:615777
57688	ZSWIM6	HP:0001763	Pes planus	1/7	OMIM:615777
57688	ZSWIM6	HP:0001762	Talipes equinovarus	12/14	OMIM:603671
57688	ZSWIM6	HP:0001762	Talipes equinovarus	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0001762	Talipes equinovarus	1/7	OMIM:617865
57688	ZSWIM6	HP:0000431	Wide nasal bridge	4/4	OMIM:603671
57688	ZSWIM6	HP:0025706	Absent fetal nasal bone	1/1	OMIM:603671
57688	ZSWIM6	HP:0004122	Midline defect of the nose	4/4	OMIM:603671
57688	ZSWIM6	HP:0005462	Calcification of falx cerebri	3/4	OMIM:603671
57688	ZSWIM6	HP:0001841	Preaxial foot polydactyly	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0001841	Preaxial foot polydactyly	5/6	OMIM:603671
57688	ZSWIM6	HP:0001840	Metatarsus adductus	-	OMIM:615777
57688	ZSWIM6	HP:0000520	Proptosis	2/4	OMIM:131300
57688	ZSWIM6	HP:0000520	Proptosis	7/7	OMIM:615777
57688	ZSWIM6	HP:0000506	Telecanthus	4/4	OMIM:603671
57688	ZSWIM6	HP:0000506	Telecanthus	HP:0040281	ORPHA:1827
57688	ZSWIM6	HP:0000508	Ptosis	5/8	OMIM:603671
57688	ZSWIM6	HP:0000508	Ptosis	HP:0040283	ORPHA:1827
57688	ZSWIM6	HP:0000501	Glaucoma	1/3	OMIM:603671
57688	ZSWIM6	HP:0000501	Glaucoma	HP:0040284	ORPHA:1827
57688	ZSWIM6	HP:0001805	Onychogryphosis	-	OMIM:603671
57688	ZSWIM6	HP:0000592	Blue sclerae	2/7	OMIM:615777
57688	ZSWIM6	HP:0011220	Prominent forehead	2/7	OMIM:617865
57688	ZSWIM6	HP:0000574	Thick eyebrow	2/7	OMIM:617865
57688	ZSWIM6	HP:0000565	Esotropia	3/7	OMIM:617865
57688	ZSWIM6	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
57688	ZSWIM6	HP:0012514	Lower limb pain	4/4	OMIM:131300
57688	ZSWIM6	HP:0012520	Dilation of Virchow-Robin spaces	1/4	OMIM:603671
57688	ZSWIM6	HP:0000545	Myopia	2/3	OMIM:603671
57688	ZSWIM6	HP:0000545	Myopia	HP:0040283	ORPHA:1827
57697	FANCM	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
57697	FANCM	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
57697	FANCM	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
57697	FANCM	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
57697	FANCM	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
57697	FANCM	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
57697	FANCM	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
57697	FANCM	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
57697	FANCM	HP:0008734	Decreased testicular size	3/3	OMIM:618086
57697	FANCM	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
57697	FANCM	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
57697	FANCM	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
57697	FANCM	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
57697	FANCM	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
57697	FANCM	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
57697	FANCM	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
57697	FANCM	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
57697	FANCM	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
57697	FANCM	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
57697	FANCM	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
57697	FANCM	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
57697	FANCM	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
57697	FANCM	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
57697	FANCM	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
57697	FANCM	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
57697	FANCM	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
57697	FANCM	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
57697	FANCM	HP:0000007	Autosomal recessive inheritance	-	OMIM:618086
57697	FANCM	HP:0000007	Autosomal recessive inheritance	-	OMIM:618096
57697	FANCM	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
57697	FANCM	HP:0031103	Decreased circulating antimullerian hormone circulation	2/2	OMIM:618096
57697	FANCM	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
57697	FANCM	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
57697	FANCM	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
57697	FANCM	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
57697	FANCM	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
57697	FANCM	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
57697	FANCM	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
57697	FANCM	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
57697	FANCM	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
57697	FANCM	HP:0010469	Absent testis	HP:0040283	ORPHA:84
57697	FANCM	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
57697	FANCM	HP:0008232	Elevated circulating follicle stimulating hormone level	3/3	OMIM:618086
57697	FANCM	HP:0008232	Elevated circulating follicle stimulating hormone level	2/2	OMIM:618096
57697	FANCM	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
57697	FANCM	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
57697	FANCM	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
57697	FANCM	HP:0011969	Elevated circulating luteinizing hormone level	2/3	OMIM:618086
57697	FANCM	HP:0011961	Non-obstructive azoospermia	3/3	OMIM:618086
57697	FANCM	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
57697	FANCM	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
57697	FANCM	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
57697	FANCM	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
57697	FANCM	HP:0003621	Juvenile onset	2/2	OMIM:618096
57697	FANCM	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
57697	FANCM	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
57697	FANCM	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
57697	FANCM	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
57697	FANCM	HP:0001903	Anemia	HP:0040281	ORPHA:84
57697	FANCM	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
57697	FANCM	HP:0004322	Short stature	HP:0040281	ORPHA:84
57697	FANCM	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
57697	FANCM	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
57697	FANCM	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
57697	FANCM	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
57697	FANCM	HP:0011462	Young adult onset	3/3	OMIM:618086
57697	FANCM	HP:0000876	Oligomenorrhea	1/2	OMIM:618096
57697	FANCM	HP:0000858	Irregular menstruation	2/2	OMIM:618096
57697	FANCM	HP:0000869	Secondary amenorrhea	1/2	OMIM:618096
57697	FANCM	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
57697	FANCM	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
57697	FANCM	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
57697	FANCM	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
57697	FANCM	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
57697	FANCM	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
57697	FANCM	HP:0003251	Male infertility	3/3	OMIM:618086
57697	FANCM	HP:0040171	Decreased serum testosterone concentration	1/3	OMIM:618086
57697	FANCM	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
57697	FANCM	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
57697	FANCM	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
57697	FANCM	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
57697	FANCM	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
57697	FANCM	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
57697	FANCM	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
57697	FANCM	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
57697	FANCM	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
57697	FANCM	HP:0000218	High palate	HP:0040283	ORPHA:84
57697	FANCM	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
57697	FANCM	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
57697	FANCM	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
57697	FANCM	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
57697	FANCM	HP:0001510	Growth delay	HP:0040283	ORPHA:84
57697	FANCM	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
57697	FANCM	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
57697	FANCM	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
57697	FANCM	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
57697	FANCM	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
57697	FANCM	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
57697	FANCM	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
57697	FANCM	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
57697	FANCM	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
57697	FANCM	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
57697	FANCM	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
57697	FANCM	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
57697	FANCM	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
57697	FANCM	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
57697	FANCM	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
57697	FANCM	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
57697	FANCM	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
57697	FANCM	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
57697	FANCM	HP:0000486	Strabismus	HP:0040283	ORPHA:84
57697	FANCM	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
57697	FANCM	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
57697	FANCM	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
57697	FANCM	HP:0001763	Pes planus	HP:0040283	ORPHA:84
57697	FANCM	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
57697	FANCM	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
57697	FANCM	HP:0000518	Cataract	HP:0040283	ORPHA:84
57697	FANCM	HP:0000520	Proptosis	HP:0040283	ORPHA:84
57697	FANCM	HP:0001824	Weight loss	HP:0040283	ORPHA:84
57697	FANCM	HP:0000508	Ptosis	HP:0040283	ORPHA:84
57697	FANCM	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
57697	FANCM	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
57697	FANCM	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
57697	FANCM	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
57697	FANCM	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
57697	FANCM	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
57697	FANCM	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
57704	GBA2	HP:0002495	Impaired vibratory sensation	1/5	OMIM:614409
57704	GBA2	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:352641
57704	GBA2	HP:0002464	Spastic dysarthria	HP:0040283	ORPHA:320391
57704	GBA2	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:352641
57704	GBA2	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:320391
57704	GBA2	HP:0002406	Limb dysmetria	-	OMIM:614409
57704	GBA2	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:320391
57704	GBA2	HP:0001272	Cerebellar atrophy	2/2	OMIM:614409
57704	GBA2	HP:0001268	Mental deterioration	-	OMIM:614409
57704	GBA2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:320391
57704	GBA2	HP:0001256	Intellectual disability, mild	HP:0040284	ORPHA:352641
57704	GBA2	HP:0001251	Ataxia	HP:0040281	ORPHA:320391
57704	GBA2	HP:0001249	Intellectual disability	HP:0040283	OMIM:614409
57704	GBA2	HP:0001260	Dysarthria	3/5	OMIM:614409
57704	GBA2	HP:0001258	Spastic paraplegia	5/5	OMIM:614409
57704	GBA2	HP:0001257	Spasticity	HP:0040281	ORPHA:352641
57704	GBA2	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:320391
57704	GBA2	HP:0007371	Corpus callosum atrophy	HP:0040282	ORPHA:320391
57704	GBA2	HP:0007340	Lower limb muscle weakness	5/5	OMIM:614409
57704	GBA2	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:320391
57704	GBA2	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:352641
57704	GBA2	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:320391
57704	GBA2	HP:0000020	Urinary incontinence	-	OMIM:614409
57704	GBA2	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:352641
57704	GBA2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:320391
57704	GBA2	HP:0001347	Hyperreflexia	5/5	OMIM:614409
57704	GBA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614409
57704	GBA2	HP:0002650	Scoliosis	HP:0040283	ORPHA:320391
57704	GBA2	HP:0002650	Scoliosis	2/5	OMIM:614409
57704	GBA2	HP:0002650	Scoliosis	HP:0040283	ORPHA:352641
57704	GBA2	HP:0002015	Dysphagia	HP:0040282	ORPHA:352641
57704	GBA2	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:320391
57704	GBA2	HP:0002066	Gait ataxia	HP:0040282	ORPHA:352641
57704	GBA2	HP:0002064	Spastic gait	-	OMIM:614409
57704	GBA2	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:352641
57704	GBA2	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:320391
57704	GBA2	HP:0002061	Lower limb spasticity	5/5	OMIM:614409
57704	GBA2	HP:0002078	Truncal ataxia	HP:0040284	ORPHA:352641
57704	GBA2	HP:0002078	Truncal ataxia	HP:0040283	ORPHA:320391
57704	GBA2	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:614409
57704	GBA2	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:352641
57704	GBA2	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:320391
57704	GBA2	HP:0002059	Cerebral atrophy	2/2	OMIM:614409
57704	GBA2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:352641
57704	GBA2	HP:0100513	Decreased circulating vitamin E concentration	-	ORPHA:352641
57704	GBA2	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:352641
57704	GBA2	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:320391
57704	GBA2	HP:0003487	Babinski sign	HP:0040281	ORPHA:320391
57704	GBA2	HP:0003487	Babinski sign	5/5	OMIM:614409
57704	GBA2	HP:0003487	Babinski sign	HP:0040281	ORPHA:352641
57704	GBA2	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:320391
57704	GBA2	HP:0002136	Broad-based gait	HP:0040283	ORPHA:320391
57704	GBA2	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040283	ORPHA:352641
57704	GBA2	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040283	OMIM:614409
57704	GBA2	HP:0020036	Upper limb dysmetria	-	OMIM:614409
57704	GBA2	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:352641
57704	GBA2	HP:0003690	Limb muscle weakness	-	OMIM:614409
57704	GBA2	HP:0002378	Hand tremor	1/5	OMIM:614409
57704	GBA2	HP:0003676	Progressive	-	OMIM:614409
57704	GBA2	HP:0002346	Head tremor	HP:0040283	ORPHA:352641
57704	GBA2	HP:0002346	Head tremor	HP:0040283	OMIM:614409
57704	GBA2	HP:0002346	Head tremor	HP:0040283	ORPHA:320391
57704	GBA2	HP:0010831	Impaired proprioception	HP:0040282	ORPHA:352641
57704	GBA2	HP:0007141	Sensorimotor neuropathy	HP:0040282	ORPHA:352641
57704	GBA2	HP:0002310	Orofacial dyskinesia	1/5	OMIM:614409
57704	GBA2	HP:0003621	Juvenile onset	2/5	OMIM:614409
57704	GBA2	HP:0004905	Reduced circulating vitamin A concentration	-	ORPHA:352641
57704	GBA2	HP:0000639	Nystagmus	HP:0040283	ORPHA:320391
57704	GBA2	HP:0000639	Nystagmus	-	OMIM:614409
57704	GBA2	HP:0000639	Nystagmus	HP:0040282	ORPHA:352641
57704	GBA2	HP:0006986	Upper limb spasticity	5/5	OMIM:614409
57704	GBA2	HP:0006986	Upper limb spasticity	HP:0040283	ORPHA:320391
57704	GBA2	HP:0006938	Impaired vibration sensation at ankles	HP:0040283	ORPHA:320391
57704	GBA2	HP:0000726	Dementia	5/5	OMIM:614409
57704	GBA2	HP:0000726	Dementia	HP:0040283	ORPHA:320391
57704	GBA2	HP:0011463	Childhood onset	3/5	OMIM:614409
57704	GBA2	HP:0011449	Knee clonus	-	OMIM:614409
57704	GBA2	HP:0011448	Ankle clonus	-	OMIM:614409
57704	GBA2	HP:0000789	Infertility	HP:0040283	ORPHA:320391
57704	GBA2	HP:0000789	Infertility	HP:0040283	OMIM:614409
57704	GBA2	HP:0012864	Abnormal sperm morphology	HP:0040283	ORPHA:320391
57704	GBA2	HP:0012865	Abnormal sperm head morphology	HP:0040283	ORPHA:320391
57704	GBA2	HP:0100261	Abnormal tendon morphology	HP:0040283	ORPHA:320391
57704	GBA2	HP:0008003	Jerky ocular pursuit movements	HP:0040283	ORPHA:320391
57704	GBA2	HP:0008003	Jerky ocular pursuit movements	-	OMIM:614409
57704	GBA2	HP:0002808	Kyphosis	HP:0040283	OMIM:614409
57704	GBA2	HP:0012207	Reduced sperm motility	HP:0040283	ORPHA:320391
57704	GBA2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:320391
57704	GBA2	HP:0000365	Hearing impairment	HP:0040283	OMIM:614409
57704	GBA2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:352641
57704	GBA2	HP:0001761	Pes cavus	HP:0040283	ORPHA:320391
57704	GBA2	HP:0001761	Pes cavus	4/5	OMIM:614409
57704	GBA2	HP:0001761	Pes cavus	HP:0040283	ORPHA:352641
57704	GBA2	HP:0000518	Cataract	HP:0040281	ORPHA:320391
57704	GBA2	HP:0000518	Cataract	4/5	OMIM:614409
57704	GBA2	HP:0000570	Abnormal saccadic eye movements	HP:0040282	ORPHA:352641
57709	SLC7A14	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
57709	SLC7A14	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
57709	SLC7A14	HP:0001105	Retinal atrophy	1/1	OMIM:615725
57709	SLC7A14	HP:0001123	Visual field defect	1/1	OMIM:615725
57709	SLC7A14	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
57709	SLC7A14	HP:0000007	Autosomal recessive inheritance	-	OMIM:615725
57709	SLC7A14	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
57709	SLC7A14	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
57709	SLC7A14	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
57709	SLC7A14	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
57709	SLC7A14	HP:0007663	Reduced visual acuity	1/1	OMIM:615725
57709	SLC7A14	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
57709	SLC7A14	HP:0003621	Juvenile onset	8/19	OMIM:180100
57709	SLC7A14	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
57709	SLC7A14	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
57709	SLC7A14	HP:0000618	Blindness	HP:0040281	ORPHA:791
57709	SLC7A14	HP:0000613	Photophobia	HP:0040281	ORPHA:791
57709	SLC7A14	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
57709	SLC7A14	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
57709	SLC7A14	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
57709	SLC7A14	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
57709	SLC7A14	HP:0000662	Nyctalopia	26/28	OMIM:180100
57709	SLC7A14	HP:0000662	Nyctalopia	1/1	OMIM:615725
57709	SLC7A14	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
57709	SLC7A14	HP:0011463	Childhood onset	3/19	OMIM:180100
57709	SLC7A14	HP:0011463	Childhood onset	1/1	OMIM:615725
57709	SLC7A14	HP:0011462	Young adult onset	8/19	OMIM:180100
57709	SLC7A14	HP:0030786	Photopsia	HP:0040283	ORPHA:791
57709	SLC7A14	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
57709	SLC7A14	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
57709	SLC7A14	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
57709	SLC7A14	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
57709	SLC7A14	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
57709	SLC7A14	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
57709	SLC7A14	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
57709	SLC7A14	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:615725
57709	SLC7A14	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
57709	SLC7A14	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
57709	SLC7A14	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
57709	SLC7A14	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
57709	SLC7A14	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
57709	SLC7A14	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
57709	SLC7A14	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
57709	SLC7A14	HP:0000510	Rod-cone dystrophy	1/1	OMIM:615725
57709	SLC7A14	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
57709	SLC7A14	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
57709	SLC7A14	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
57709	SLC7A14	HP:0000575	Scotoma	5/18	OMIM:180100
57709	SLC7A14	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
57709	SLC7A14	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
57709	SLC7A14	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
57709	SLC7A14	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
57709	SLC7A14	HP:0000543	Optic disc pallor	1/1	OMIM:180100
57709	SLC7A14	HP:0000545	Myopia	-	OMIM:180100
57716	PRX	HP:0001178	Ulnar claw	-	OMIM:145900
57716	PRX	HP:0001171	Split hand	-	OMIM:145900
57716	PRX	HP:0002460	Distal muscle weakness	-	OMIM:614895
57716	PRX	HP:0002460	Distal muscle weakness	-	OMIM:145900
57716	PRX	HP:0010871	Sensory ataxia	-	OMIM:614895
57716	PRX	HP:0010871	Sensory ataxia	1/1	OMIM:145900
57716	PRX	HP:0003701	Proximal muscle weakness	1/1	OMIM:145900
57716	PRX	HP:0001270	Motor delay	-	OMIM:614895
57716	PRX	HP:0001270	Motor delay	1/1	OMIM:145900
57716	PRX	HP:0001288	Gait disturbance	-	OMIM:614895
57716	PRX	HP:0001284	Areflexia	-	OMIM:614895
57716	PRX	HP:0001284	Areflexia	1/1	OMIM:145900
57716	PRX	HP:0001252	Hypotonia	-	OMIM:145900
57716	PRX	HP:0001265	Hyporeflexia	-	OMIM:145900
57716	PRX	HP:0002505	Loss of ambulation	1/8	OMIM:614895
57716	PRX	HP:0000007	Autosomal recessive inheritance	-	OMIM:145900
57716	PRX	HP:0000007	Autosomal recessive inheritance	-	OMIM:614895
57716	PRX	HP:0000006	Autosomal dominant inheritance	-	OMIM:145900
57716	PRX	HP:0001308	Tongue fasciculations	1/1	OMIM:145900
57716	PRX	HP:0002650	Scoliosis	8/8	OMIM:614895
57716	PRX	HP:0002650	Scoliosis	1/1	OMIM:145900
57716	PRX	HP:0008954	Intrinsic hand muscle atrophy	-	OMIM:614895
57716	PRX	HP:0002751	Kyphoscoliosis	-	OMIM:145900
57716	PRX	HP:0002066	Gait ataxia	-	OMIM:614895
57716	PRX	HP:0003376	Steppage gait	-	OMIM:614895
57716	PRX	HP:0003376	Steppage gait	-	OMIM:145900
57716	PRX	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	-	OMIM:614895
57716	PRX	HP:0003383	Onion bulb formation	1/1	OMIM:614895
57716	PRX	HP:0003383	Onion bulb formation	1/1	OMIM:145900
57716	PRX	HP:0003382	Hypertrophic nerve changes	-	OMIM:145900
57716	PRX	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:614895
57716	PRX	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:145900
57716	PRX	HP:0003481	Segmental peripheral demyelination/remyelination	1/1	OMIM:145900
57716	PRX	HP:0003448	Decreased sensory nerve conduction velocity	1/1	OMIM:145900
57716	PRX	HP:0002136	Broad-based gait	-	OMIM:614895
57716	PRX	HP:0002136	Broad-based gait	1/1	OMIM:145900
57716	PRX	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:614895
57716	PRX	HP:0003431	Decreased motor nerve conduction velocity	1/1	OMIM:145900
57716	PRX	HP:0003400	Basal lamina onion bulb formation	-	OMIM:614895
57716	PRX	HP:0003593	Infantile onset	1/1	OMIM:145900
57716	PRX	HP:0002280	Enlarged cisterna magna	2/2	OMIM:614895
57716	PRX	HP:0003693	Distal amyotrophy	-	OMIM:614895
57716	PRX	HP:0003693	Distal amyotrophy	-	OMIM:145900
57716	PRX	HP:0003690	Limb muscle weakness	-	OMIM:614895
57716	PRX	HP:0003677	Slowly progressive	-	OMIM:614895
57716	PRX	HP:0006886	Impaired distal vibration sensation	1/1	OMIM:145900
57716	PRX	HP:0000639	Nystagmus	HP:0040283	OMIM:145900
57716	PRX	HP:0009053	Distal lower limb muscle weakness	1/1	OMIM:145900
57716	PRX	HP:0009027	Foot dorsiflexor weakness	-	OMIM:145900
57716	PRX	HP:0011463	Childhood onset	-	OMIM:614895
57716	PRX	HP:0003202	Skeletal muscle atrophy	-	OMIM:614895
57716	PRX	HP:0011096	Peripheral demyelination	-	OMIM:614895
57716	PRX	HP:0011096	Peripheral demyelination	1/1	OMIM:145900
57716	PRX	HP:0002936	Distal sensory impairment	-	OMIM:614895
57716	PRX	HP:0002936	Distal sensory impairment	-	OMIM:145900
57716	PRX	HP:0001604	Vocal cord paresis	HP:0040283	OMIM:614895
57716	PRX	HP:0002922	Increased CSF protein concentration	-	OMIM:145900
57716	PRX	HP:0030175	Myelin tomacula	1/1	OMIM:145900
57716	PRX	HP:0001763	Pes planus	1/1	OMIM:145900
57716	PRX	HP:0001765	Hammertoe	-	OMIM:145900
57716	PRX	HP:0001761	Pes cavus	-	OMIM:614895
57716	PRX	HP:0001761	Pes cavus	-	OMIM:145900
57724	EPG5	HP:0001107	Ocular albinism	-	OMIM:242840
57724	EPG5	HP:0001104	Macular hypoplasia	2/27	OMIM:242840
57724	EPG5	HP:0001103	Abnormal macular morphology	HP:0040283	ORPHA:1493
57724	EPG5	HP:0032218	Decreased proportion of CD4-positive T cells	-	OMIM:242840
57724	EPG5	HP:0001274	Agenesis of corpus callosum	27/27	OMIM:242840
57724	EPG5	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:1493
57724	EPG5	HP:0001270	Motor delay	-	OMIM:242840
57724	EPG5	HP:0001250	Seizure	HP:0040282	ORPHA:1493
57724	EPG5	HP:0001250	Seizure	13/27	OMIM:242840
57724	EPG5	HP:0001252	Hypotonia	HP:0040281	ORPHA:1493
57724	EPG5	HP:0001252	Hypotonia	17/27	OMIM:242840
57724	EPG5	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1493
57724	EPG5	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1493
57724	EPG5	HP:0001263	Global developmental delay	27/27	OMIM:242840
57724	EPG5	HP:0007401	Macular atrophy	1/27	OMIM:242840
57724	EPG5	HP:0002533	Abnormal posturing	-	OMIM:242840
57724	EPG5	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1493
57724	EPG5	HP:0008897	Postnatal growth retardation	12/27	OMIM:242840
57724	EPG5	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:1493
57724	EPG5	HP:0000007	Autosomal recessive inheritance	-	OMIM:242840
57724	EPG5	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:242840
57724	EPG5	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:1493
57724	EPG5	HP:0000161	Median cleft upper lip	4/27	OMIM:242840
57724	EPG5	HP:0000175	Cleft palate	-	OMIM:242840
57724	EPG5	HP:0012110	Hypoplasia of the pons	HP:0040282	ORPHA:1493
57724	EPG5	HP:0002719	Recurrent infections	HP:0040281	ORPHA:1493
57724	EPG5	HP:0002718	Recurrent bacterial infections	-	OMIM:242840
57724	EPG5	HP:0002728	Chronic mucocutaneous candidiasis	-	OMIM:242840
57724	EPG5	HP:0002721	Immunodeficiency	-	OMIM:242840
57724	EPG5	HP:0002015	Dysphagia	4/27	OMIM:242840
57724	EPG5	HP:0005999	Ureteral atresia	HP:0040281	ORPHA:1493
57724	EPG5	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:1493
57724	EPG5	HP:0003593	Infantile onset	1/1	OMIM:242840
57724	EPG5	HP:0003577	Congenital onset	-	OMIM:242840
57724	EPG5	HP:0002205	Recurrent respiratory infections	-	OMIM:242840
57724	EPG5	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:1493
57724	EPG5	HP:0002282	Gray matter heterotopia	-	OMIM:242840
57724	EPG5	HP:0002282	Gray matter heterotopia	HP:0040282	ORPHA:1493
57724	EPG5	HP:0008348	Decreased circulating IgG2 concentration	-	OMIM:242840
57724	EPG5	HP:0008348	Decreased circulating IgG2 concentration	HP:0040283	ORPHA:1493
57724	EPG5	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:1493
57724	EPG5	HP:0010636	Schizencephaly	-	OMIM:242840
57724	EPG5	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:1493
57724	EPG5	HP:0001010	Hypopigmentation of the skin	27/27	OMIM:242840
57724	EPG5	HP:0001010	Hypopigmentation of the skin	HP:0040281	ORPHA:1493
57724	EPG5	HP:0001022	Albinism	-	OMIM:242840
57724	EPG5	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1493
57724	EPG5	HP:0010803	Everted upper lip vermilion	1/27	OMIM:242840
57724	EPG5	HP:0009099	Median cleft palate	4/27	OMIM:242840
57724	EPG5	HP:0005599	Hypopigmentation of hair	26/27	OMIM:242840
57724	EPG5	HP:0000639	Nystagmus	HP:0040282	ORPHA:1493
57724	EPG5	HP:0000639	Nystagmus	10/27	OMIM:242840
57724	EPG5	HP:0000648	Optic atrophy	HP:0040282	ORPHA:1493
57724	EPG5	HP:0001947	Renal tubular acidosis	HP:0040282	ORPHA:1493
57724	EPG5	HP:0001941	Acidosis	-	OMIM:242840
57724	EPG5	HP:0000601	Hypotelorism	1/27	OMIM:242840
57724	EPG5	HP:0000601	Hypotelorism	HP:0040283	ORPHA:1493
57724	EPG5	HP:0004322	Short stature	HP:0040281	ORPHA:1493
57724	EPG5	HP:0004315	Decreased circulating IgG concentration	5/27	OMIM:242840
57724	EPG5	HP:0004315	Decreased circulating IgG concentration	HP:0040283	ORPHA:1493
57724	EPG5	HP:0000777	Abnormal thymus morphology	-	OMIM:242840
57724	EPG5	HP:0004429	Recurrent viral infections	-	OMIM:242840
57724	EPG5	HP:0003198	Myopathy	9/27	OMIM:242840
57724	EPG5	HP:0003236	Elevated circulating creatine kinase concentration	7/7	OMIM:242840
57724	EPG5	HP:0003244	Penile hypospadias	-	OMIM:242840
57724	EPG5	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1493
57724	EPG5	HP:0000286	Epicanthus	1/27	OMIM:242840
57724	EPG5	HP:0000252	Microcephaly	14/27	OMIM:242840
57724	EPG5	HP:0000218	High palate	HP:0040282	ORPHA:1493
57724	EPG5	HP:0000218	High palate	10/27	OMIM:242840
57724	EPG5	HP:0001522	Death in infancy	HP:0040281	ORPHA:1493
57724	EPG5	HP:0000204	Cleft upper lip	-	OMIM:242840
57724	EPG5	HP:0001508	Failure to thrive	-	OMIM:242840
57724	EPG5	HP:0002841	Recurrent fungal infections	-	OMIM:242840
57724	EPG5	HP:0007894	Hypopigmentation of the fundus	18/27	OMIM:242840
57724	EPG5	HP:0000369	Low-set ears	2/27	OMIM:242840
57724	EPG5	HP:0000341	Narrow forehead	1/27	OMIM:242840
57724	EPG5	HP:0000343	Long philtrum	1/27	OMIM:242840
57724	EPG5	HP:0000347	Micrognathia	10/27	OMIM:242840
57724	EPG5	HP:0000316	Hypertelorism	HP:0040283	ORPHA:1493
57724	EPG5	HP:0000316	Hypertelorism	2/27	OMIM:242840
57724	EPG5	HP:0001644	Dilated cardiomyopathy	-	OMIM:242840
57724	EPG5	HP:0000325	Triangular face	1/27	OMIM:242840
57724	EPG5	HP:0001635	Congestive heart failure	-	OMIM:242840
57724	EPG5	HP:0001638	Cardiomyopathy	-	OMIM:242840
57724	EPG5	HP:0001638	Cardiomyopathy	HP:0040281	ORPHA:1493
57724	EPG5	HP:0002965	Cutaneous anergy	-	OMIM:242840
57724	EPG5	HP:0001631	Atrial septal defect	2/27	OMIM:242840
57724	EPG5	HP:0005374	Cellular immunodeficiency	HP:0040281	ORPHA:1493
57724	EPG5	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:1493
57724	EPG5	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:242840
57724	EPG5	HP:0001712	Left ventricular hypertrophy	-	OMIM:242840
57724	EPG5	HP:0005280	Depressed nasal bridge	2/27	OMIM:242840
57724	EPG5	HP:0012471	Thick vermilion border	1/27	OMIM:242840
57724	EPG5	HP:0000437	Depressed nasal tip	HP:0040282	ORPHA:1493
57724	EPG5	HP:0000445	Wide nose	1/27	OMIM:242840
57724	EPG5	HP:0005419	Decreased T cell activation	-	OMIM:242840
57724	EPG5	HP:0005403	Decreased total T cell count	3/27	OMIM:242840
57724	EPG5	HP:0000518	Cataract	22/27	OMIM:242840
57724	EPG5	HP:0000518	Cataract	HP:0040282	ORPHA:1493
57724	EPG5	HP:0000519	Developmental cataract	-	OMIM:242840
57724	EPG5	HP:0000508	Ptosis	2/27	OMIM:242840
57724	EPG5	HP:0011220	Prominent forehead	1/27	OMIM:242840
57724	EPG5	HP:0001888	Decreased total lymphocyte count	3/27	OMIM:242840
57724	EPG5	HP:0001882	Decreased total leukocyte count	3/27	OMIM:242840
57724	EPG5	HP:0001875	Decreased total neutrophil count	1/27	OMIM:242840
57728	WDR19	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1515
57728	WDR19	HP:0001156	Brachydactyly	HP:0040282	ORPHA:474
57728	WDR19	HP:0001156	Brachydactyly	1/1	OMIM:614376
57728	WDR19	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:474
57728	WDR19	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
57728	WDR19	HP:0003774	Stage 5 chronic kidney disease	4/4	OMIM:616307
57728	WDR19	HP:0003774	Stage 5 chronic kidney disease	1/2	OMIM:614378
57728	WDR19	HP:0003774	Stage 5 chronic kidney disease	1/1	OMIM:614376
57728	WDR19	HP:0003774	Stage 5 chronic kidney disease	4/4	OMIM:614377
57728	WDR19	HP:0003774	Stage 5 chronic kidney disease	HP:0040281	ORPHA:3156
57728	WDR19	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:1515
57728	WDR19	HP:0009882	Short distal phalanx of finger	-	OMIM:614378
57728	WDR19	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
57728	WDR19	HP:0033525	Absent sperm axoneme central pair complex	1/1	OMIM:619867
57728	WDR19	HP:0001293	Cranial nerve compression	-	OMIM:131300
57728	WDR19	HP:0001252	Hypotonia	2/7	OMIM:615777
57728	WDR19	HP:0001251	Ataxia	HP:0040283	ORPHA:3156
57728	WDR19	HP:0001249	Intellectual disability	5/7	OMIM:615777
57728	WDR19	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3156
57728	WDR19	HP:0001263	Global developmental delay	-	OMIM:615777
57728	WDR19	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1515
57728	WDR19	HP:0002558	Supernumerary nipple	1/1	OMIM:614376
57728	WDR19	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:1515
57728	WDR19	HP:0007401	Macular atrophy	-	OMIM:616307
57728	WDR19	HP:0100866	Short iliac bones	1/1	OMIM:614376
57728	WDR19	HP:0033601	Glomerular subepithelial immune-complex deposits	2/2	OMIM:614377
57728	WDR19	HP:0033601	Glomerular subepithelial immune-complex deposits	1/1	OMIM:616307
57728	WDR19	HP:0002515	Waddling gait	54/102	OMIM:131300
57728	WDR19	HP:0000089	Renal hypoplasia	1/1	OMIM:614376
57728	WDR19	HP:0000089	Renal hypoplasia	3/4	OMIM:614377
57728	WDR19	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:474
57728	WDR19	HP:0000099	Glomerulonephritis	1/1	OMIM:614376
57728	WDR19	HP:0000096	Glomerular sclerosis	2/4	OMIM:614377
57728	WDR19	HP:0000090	Nephronophthisis	HP:0040283	ORPHA:474
57728	WDR19	HP:0000090	Nephronophthisis	4/4	OMIM:616307
57728	WDR19	HP:0000090	Nephronophthisis	-	OMIM:614377
57728	WDR19	HP:0000090	Nephronophthisis	HP:0040282	ORPHA:3156
57728	WDR19	HP:0000093	Proteinuria	1/1	OMIM:614376
57728	WDR19	HP:0000093	Proteinuria	2/2	OMIM:614377
57728	WDR19	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:474
57728	WDR19	HP:0001385	Hip dysplasia	2/2	OMIM:614378
57728	WDR19	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1515
57728	WDR19	HP:0001382	Joint hypermobility	-	OMIM:615777
57728	WDR19	HP:0001382	Joint hypermobility	2/2	OMIM:614378
57728	WDR19	HP:0000023	Inguinal hernia	1/1	OMIM:614376
57728	WDR19	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:1515
57728	WDR19	HP:0002694	Sclerosis of skull base	-	OMIM:131300
57728	WDR19	HP:0008897	Postnatal growth retardation	-	OMIM:615777
57728	WDR19	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:474
57728	WDR19	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
57728	WDR19	HP:0001324	Muscle weakness	40/96	OMIM:131300
57728	WDR19	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
57728	WDR19	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
57728	WDR19	HP:0000007	Autosomal recessive inheritance	-	OMIM:616307
57728	WDR19	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
57728	WDR19	HP:0000007	Autosomal recessive inheritance	-	OMIM:614378
57728	WDR19	HP:0000007	Autosomal recessive inheritance	-	OMIM:614376
57728	WDR19	HP:0000007	Autosomal recessive inheritance	-	OMIM:614377
57728	WDR19	HP:0000007	Autosomal recessive inheritance	-	OMIM:619867
57728	WDR19	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
57728	WDR19	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
57728	WDR19	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:474
57728	WDR19	HP:0002650	Scoliosis	12/14	OMIM:131300
57728	WDR19	HP:0001319	Neonatal hypotonia	1/2	OMIM:614378
57728	WDR19	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
57728	WDR19	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:474
57728	WDR19	HP:0002617	Vascular dilatation	-	OMIM:616307
57728	WDR19	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:3156
57728	WDR19	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
57728	WDR19	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
57728	WDR19	HP:0008905	Rhizomelia	HP:0040281	ORPHA:1515
57728	WDR19	HP:0008905	Rhizomelia	1/1	OMIM:614376
57728	WDR19	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
57728	WDR19	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:1515
57728	WDR19	HP:0000175	Cleft palate	2/7	OMIM:615777
57728	WDR19	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
57728	WDR19	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
57728	WDR19	HP:0007663	Reduced visual acuity	-	OMIM:616307
57728	WDR19	HP:0033867	Multilamellation of medullary peritubular capillary basement membranes	1/1	OMIM:614377
57728	WDR19	HP:0000112	Nephropathy	HP:0040283	ORPHA:474
57728	WDR19	HP:0032558	Absent sperm flagella	1/1	OMIM:619867
57728	WDR19	HP:0032559	Short sperm flagella	1/1	OMIM:619867
57728	WDR19	HP:0032560	Coiled sperm flagella	1/1	OMIM:619867
57728	WDR19	HP:0001407	Hepatic cysts	1/4	OMIM:616307
57728	WDR19	HP:0001407	Hepatic cysts	1/2	OMIM:614377
57728	WDR19	HP:0002007	Frontal bossing	HP:0040281	ORPHA:1515
57728	WDR19	HP:0002007	Frontal bossing	1/2	OMIM:614378
57728	WDR19	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:474
57728	WDR19	HP:0002091	Restrictive ventilatory defect	1/1	OMIM:614376
57728	WDR19	HP:0003388	Easy fatigability	36/76	OMIM:131300
57728	WDR19	HP:0010442	Polydactyly	1/4	OMIM:616307
57728	WDR19	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
57728	WDR19	HP:0033149	Intrahepatic bile duct dilatation	6/6	OMIM:614377
57728	WDR19	HP:0033149	Intrahepatic bile duct dilatation	4/6	OMIM:616307
57728	WDR19	HP:0010454	Acetabular spurs	1/1	OMIM:614376
57728	WDR19	HP:0004743	Chronic tubulointerstitial nephritis	1/1	OMIM:614376
57728	WDR19	HP:0004737	Global glomerulosclerosis	2/2	OMIM:614377
57728	WDR19	HP:0004737	Global glomerulosclerosis	1/1	OMIM:616307
57728	WDR19	HP:0010554	Cutaneous finger syndactyly	1/2	OMIM:614378
57728	WDR19	HP:0008209	Premature ovarian insufficiency	HP:0040282	ORPHA:3156
57728	WDR19	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:474
57728	WDR19	HP:0010579	Cone-shaped epiphysis	HP:0040283	ORPHA:3156
57728	WDR19	HP:0003577	Congenital onset	2/2	OMIM:614378
57728	WDR19	HP:0003577	Congenital onset	1/1	OMIM:614376
57728	WDR19	HP:0002240	Hepatomegaly	1/1	OMIM:614376
57728	WDR19	HP:0033393	Irregularly shaped sperm tail	1/1	OMIM:619867
57728	WDR19	HP:0003510	Severe short stature	7/7	OMIM:615777
57728	WDR19	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:1515
57728	WDR19	HP:0002315	Headache	-	OMIM:131300
57728	WDR19	HP:0004976	Knee dislocation	6/7	OMIM:615777
57728	WDR19	HP:0009836	Broad distal phalanx of finger	2/2	OMIM:614378
57728	WDR19	HP:0009803	Short phalanx of finger	-	OMIM:615777
57728	WDR19	HP:0008499	High hypermetropia	HP:0040283	ORPHA:1515
57728	WDR19	HP:0009763	Limb pain	63/92	OMIM:131300
57728	WDR19	HP:0003621	Juvenile onset	8/19	OMIM:180100
57728	WDR19	HP:0003621	Juvenile onset	1/2	OMIM:616307
57728	WDR19	HP:0003621	Juvenile onset	3/4	OMIM:614377
57728	WDR19	HP:0003621	Juvenile onset	-	OMIM:131300
57728	WDR19	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
57728	WDR19	HP:0005528	Bone marrow hypocellularity	1/2	OMIM:614378
57728	WDR19	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:1515
57728	WDR19	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
57728	WDR19	HP:0012622	Chronic kidney disease	HP:0040281	ORPHA:3156
57728	WDR19	HP:0000639	Nystagmus	HP:0040283	ORPHA:1515
57728	WDR19	HP:6001056	Out-toeing	-	OMIM:131300
57728	WDR19	HP:0000651	Diplopia	-	OMIM:131300
57728	WDR19	HP:0001956	Truncal obesity	2/7	OMIM:615777
57728	WDR19	HP:0000601	Hypotelorism	HP:0040282	ORPHA:1515
57728	WDR19	HP:0001903	Anemia	HP:0040283	OMIM:131300
57728	WDR19	HP:6001070	Subdural hygroma	-	OMIM:614378
57728	WDR19	HP:0034011	Reduced progressive sperm motility	1/1	OMIM:619867
57728	WDR19	HP:0010049	Short metacarpal	-	OMIM:615777
57728	WDR19	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:1515
57728	WDR19	HP:0000679	Taurodontia	1/2	OMIM:614378
57728	WDR19	HP:0000679	Taurodontia	HP:0040283	ORPHA:1515
57728	WDR19	HP:0000678	Dental crowding	-	OMIM:615777
57728	WDR19	HP:0000691	Microdontia	HP:0040281	ORPHA:1515
57728	WDR19	HP:0000662	Nyctalopia	26/28	OMIM:180100
57728	WDR19	HP:0000662	Nyctalopia	1/2	OMIM:614378
57728	WDR19	HP:0000670	Carious teeth	-	OMIM:131300
57728	WDR19	HP:0011304	Broad thumb	2/7	OMIM:615777
57728	WDR19	HP:0000668	Hypodontia	HP:0040282	ORPHA:1515
57728	WDR19	HP:0000668	Hypodontia	-	OMIM:615777
57728	WDR19	HP:0000664	Synophrys	-	OMIM:615777
57728	WDR19	HP:0004322	Short stature	HP:0040281	ORPHA:3156
57728	WDR19	HP:0004322	Short stature	1/2	OMIM:614378
57728	WDR19	HP:0004322	Short stature	1/1	OMIM:614376
57728	WDR19	HP:0004322	Short stature	HP:0040283	ORPHA:474
57728	WDR19	HP:0004396	Poor appetite	-	OMIM:131300
57728	WDR19	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
57728	WDR19	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
57728	WDR19	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
57728	WDR19	HP:0003016	Metaphyseal widening	1/1	OMIM:614376
57728	WDR19	HP:0003026	Short long bone	7/7	OMIM:615777
57728	WDR19	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
57728	WDR19	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:3156
57728	WDR19	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:474
57728	WDR19	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:1515
57728	WDR19	HP:0000767	Pectus excavatum	2/7	OMIM:615777
57728	WDR19	HP:0000767	Pectus excavatum	2/2	OMIM:614378
57728	WDR19	HP:0000766	Abnormal sternum morphology	HP:0040282	ORPHA:474
57728	WDR19	HP:0000768	Pectus carinatum	1/7	OMIM:615777
57728	WDR19	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
57728	WDR19	HP:0000750	Delayed speech and language development	-	OMIM:615777
57728	WDR19	HP:0010174	Broad phalanx of the toes	2/2	OMIM:614378
57728	WDR19	HP:0011463	Childhood onset	3/19	OMIM:180100
57728	WDR19	HP:0011463	Childhood onset	1/2	OMIM:616307
57728	WDR19	HP:0011463	Childhood onset	2/2	OMIM:614377
57728	WDR19	HP:0011462	Young adult onset	1/1	OMIM:619867
57728	WDR19	HP:0011462	Young adult onset	8/19	OMIM:180100
57728	WDR19	HP:0011461	Fetal onset	7/7	OMIM:615777
57728	WDR19	HP:0011461	Fetal onset	1/4	OMIM:614377
57728	WDR19	HP:0000774	Narrow chest	HP:0040281	ORPHA:1515
57728	WDR19	HP:0000774	Narrow chest	HP:0040281	ORPHA:474
57728	WDR19	HP:0000774	Narrow chest	2/7	OMIM:615777
57728	WDR19	HP:0000774	Narrow chest	2/2	OMIM:614378
57728	WDR19	HP:0000774	Narrow chest	1/1	OMIM:614376
57728	WDR19	HP:0004442	Sagittal craniosynostosis	1/2	OMIM:614378
57728	WDR19	HP:0000926	Platyspondyly	1/7	OMIM:615777
57728	WDR19	HP:0003180	Flat acetabular roof	-	OMIM:615777
57728	WDR19	HP:0004482	Relative macrocephaly	-	OMIM:615777
57728	WDR19	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
57728	WDR19	HP:0000889	Abnormal clavicle morphology	HP:0040282	ORPHA:474
57728	WDR19	HP:0000822	Hypertension	HP:0040281	ORPHA:3156
57728	WDR19	HP:0000823	Delayed puberty	-	OMIM:131300
57728	WDR19	HP:0000894	Short clavicles	-	OMIM:615777
57728	WDR19	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
57728	WDR19	HP:0003251	Male infertility	1/1	OMIM:619867
57728	WDR19	HP:0003259	Elevated circulating creatinine concentration	1/1	OMIM:614376
57728	WDR19	HP:0000980	Pallor	-	OMIM:616307
57728	WDR19	HP:0010306	Short thorax	HP:0040281	ORPHA:474
57728	WDR19	HP:0000973	Cutis laxa	2/2	OMIM:614378
57728	WDR19	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
57728	WDR19	HP:0000939	Osteoporosis	HP:0040281	ORPHA:1515
57728	WDR19	HP:0033036	Decreased nasal nitric oxide	0/2	OMIM:614378
57728	WDR19	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:474
57728	WDR19	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1515
57728	WDR19	HP:0000940	Abnormal diaphysis morphology	HP:0040281	ORPHA:1515
57728	WDR19	HP:0008081	Pes valgus	2/2	OMIM:614378
57728	WDR19	HP:0008081	Pes valgus	1/1	OMIM:614376
57728	WDR19	HP:0008070	Sparse hair	HP:0040281	ORPHA:1515
57728	WDR19	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:474
57728	WDR19	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:3156
57728	WDR19	HP:0000286	Epicanthus	1/2	OMIM:614378
57728	WDR19	HP:0000286	Epicanthus	HP:0040281	ORPHA:1515
57728	WDR19	HP:0000286	Epicanthus	1/7	OMIM:615777
57728	WDR19	HP:0000280	Coarse facial features	2/7	OMIM:615777
57728	WDR19	HP:0000293	Full cheeks	1/2	OMIM:614378
57728	WDR19	HP:0000293	Full cheeks	1/1	OMIM:614376
57728	WDR19	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:1515
57728	WDR19	HP:0000269	Prominent occiput	HP:0040281	ORPHA:1515
57728	WDR19	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
57728	WDR19	HP:0002827	Hip dislocation	3/7	OMIM:615777
57728	WDR19	HP:0006371	Broad long bone diaphyses	1/1	OMIM:614376
57728	WDR19	HP:0000252	Microcephaly	-	OMIM:615777
57728	WDR19	HP:0000219	Thin upper lip vermilion	1/1	OMIM:614376
57728	WDR19	HP:0000233	Thin vermilion border	1/2	OMIM:614378
57728	WDR19	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:1515
57728	WDR19	HP:0002857	Genu valgum	-	OMIM:131300
57728	WDR19	HP:0001533	Slender build	-	OMIM:131300
57728	WDR19	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
57728	WDR19	HP:0001510	Growth delay	1/4	OMIM:614377
57728	WDR19	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
57728	WDR19	HP:0007843	Attenuation of retinal blood vessels	1/1	OMIM:614376
57728	WDR19	HP:0007807	Optic nerve compression	-	OMIM:131300
57728	WDR19	HP:0012368	Flat face	7/7	OMIM:615777
57728	WDR19	HP:0006532	Recurrent pneumonia	1/2	OMIM:614378
57728	WDR19	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
57728	WDR19	HP:0000365	Hearing impairment	10/67	OMIM:131300
57728	WDR19	HP:0000343	Long philtrum	1/7	OMIM:615777
57728	WDR19	HP:0011001	Increased bone mineral density	-	OMIM:131300
57728	WDR19	HP:0002983	Micromelia	HP:0040281	ORPHA:474
57728	WDR19	HP:0000319	Smooth philtrum	1/2	OMIM:614378
57728	WDR19	HP:0000311	Round face	2/7	OMIM:615777
57728	WDR19	HP:0002970	Genu varum	-	OMIM:615777
57728	WDR19	HP:0000303	Mandibular prognathia	-	OMIM:131300
57728	WDR19	HP:0032948	Renal interstitial fibrosis	2/4	OMIM:614377
57728	WDR19	HP:0006644	Thoracic dysplasia	-	OMIM:614376
57728	WDR19	HP:0001737	Pancreatic cysts	1/6	OMIM:614377
57728	WDR19	HP:0001737	Pancreatic cysts	1/4	OMIM:616307
57728	WDR19	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
57728	WDR19	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1515
57728	WDR19	HP:0000463	Anteverted nares	1/2	OMIM:614378
57728	WDR19	HP:0000470	Short neck	1/7	OMIM:615777
57728	WDR19	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:474
57728	WDR19	HP:0001773	Short foot	HP:0040282	ORPHA:474
57728	WDR19	HP:0001773	Short foot	1/1	OMIM:614376
57728	WDR19	HP:0001769	Broad foot	HP:0040283	OMIM:615777
57728	WDR19	HP:0001763	Pes planus	1/7	OMIM:615777
57728	WDR19	HP:0000411	Protruding ear	1/2	OMIM:614378
57728	WDR19	HP:0000431	Wide nasal bridge	1/1	OMIM:614376
57728	WDR19	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040283	ORPHA:474
57728	WDR19	HP:0000518	Cataract	HP:0040283	ORPHA:3156
57728	WDR19	HP:0000518	Cataract	1/1	OMIM:614376
57728	WDR19	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
57728	WDR19	HP:0000510	Rod-cone dystrophy	2/2	OMIM:616307
57728	WDR19	HP:0000510	Rod-cone dystrophy	2/2	OMIM:614378
57728	WDR19	HP:0001840	Metatarsus adductus	-	OMIM:615777
57728	WDR19	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:3156
57728	WDR19	HP:0000520	Proptosis	2/4	OMIM:131300
57728	WDR19	HP:0000520	Proptosis	7/7	OMIM:615777
57728	WDR19	HP:0000505	Visual impairment	HP:0040281	ORPHA:3156
57728	WDR19	HP:0000505	Visual impairment	-	OMIM:616307
57728	WDR19	HP:0000505	Visual impairment	2/2	OMIM:614378
57728	WDR19	HP:0001830	Postaxial foot polydactyly	HP:0040283	ORPHA:474
57728	WDR19	HP:0001805	Onychogryphosis	1/2	OMIM:614378
57728	WDR19	HP:0012595	Mild proteinuria	1/4	OMIM:614377
57728	WDR19	HP:0000575	Scotoma	5/18	OMIM:180100
57728	WDR19	HP:0000592	Blue sclerae	2/7	OMIM:615777
57728	WDR19	HP:0000556	Retinal dystrophy	1/4	OMIM:616307
57728	WDR19	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:3156
57728	WDR19	HP:0000540	Hypermetropia	2/2	OMIM:614378
57728	WDR19	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
57728	WDR19	HP:0012514	Lower limb pain	4/4	OMIM:131300
57728	WDR19	HP:0000543	Optic disc pallor	1/1	OMIM:180100
57728	WDR19	HP:0000545	Myopia	HP:0040283	ORPHA:1515
57728	WDR19	HP:0000545	Myopia	-	OMIM:180100
57728	WDR19	HP:0000545	Myopia	1/1	OMIM:614376
57731	SPTBN4	HP:0002460	Distal muscle weakness	1/1	OMIM:617519
57731	SPTBN4	HP:0010864	Intellectual disability, severe	5/5	OMIM:617519
57731	SPTBN4	HP:0007220	Demyelinating motor neuropathy	1/1	OMIM:617519
57731	SPTBN4	HP:0002421	Poor head control	6/6	OMIM:617519
57731	SPTBN4	HP:0003700	Generalized amyotrophy	5/6	OMIM:617519
57731	SPTBN4	HP:0001290	Generalized hypotonia	5/5	OMIM:617519
57731	SPTBN4	HP:0001270	Motor delay	1/1	OMIM:617519
57731	SPTBN4	HP:0001284	Areflexia	5/6	OMIM:617519
57731	SPTBN4	HP:0001250	Seizure	HP:0040284	OMIM:617519
57731	SPTBN4	HP:0001252	Hypotonia	1/1	OMIM:617519
57731	SPTBN4	HP:0001266	Choreoathetosis	1/5	OMIM:617519
57731	SPTBN4	HP:0001263	Global developmental delay	-	OMIM:617519
57731	SPTBN4	HP:0002500	Abnormal cerebral white matter morphology	1/3	OMIM:617519
57731	SPTBN4	HP:0001344	Absent speech	5/5	OMIM:617519
57731	SPTBN4	HP:0000007	Autosomal recessive inheritance	-	OMIM:617519
57731	SPTBN4	HP:0002650	Scoliosis	3/6	OMIM:617519
57731	SPTBN4	HP:0001319	Neonatal hypotonia	5/5	OMIM:617519
57731	SPTBN4	HP:0002020	Gastroesophageal reflux	3/3	OMIM:617519
57731	SPTBN4	HP:0002033	Poor suck	6/6	OMIM:617519
57731	SPTBN4	HP:0002015	Dysphagia	5/5	OMIM:617519
57731	SPTBN4	HP:0011807	Type 1 muscle fiber atrophy	3/3	OMIM:617519
57731	SPTBN4	HP:0002058	Myopathic facies	6/6	OMIM:617519
57731	SPTBN4	HP:0003477	Peripheral axonal neuropathy	2/6	OMIM:617519
57731	SPTBN4	HP:0002194	Delayed gross motor development	5/5	OMIM:617519
57731	SPTBN4	HP:0003577	Congenital onset	2/5	OMIM:617519
57731	SPTBN4	HP:0100704	Cerebral visual impairment	-	OMIM:617519
57731	SPTBN4	HP:0003554	Type 2 muscle fiber atrophy	1/2	OMIM:617519
57731	SPTBN4	HP:0004891	Recurrent infections due to aspiration	5/5	OMIM:617519
57731	SPTBN4	HP:0034677	Ankle contracture	1/1	OMIM:617519
57731	SPTBN4	HP:0007002	Motor axonal neuropathy	1/1	OMIM:617519
57731	SPTBN4	HP:0011968	Feeding difficulties	6/6	OMIM:617519
57731	SPTBN4	HP:0010628	Facial palsy	-	OMIM:617519
57731	SPTBN4	HP:0003693	Distal amyotrophy	4/5	OMIM:617519
57731	SPTBN4	HP:0002353	EEG abnormality	2/2	OMIM:617519
57731	SPTBN4	HP:0007108	Demyelinating peripheral neuropathy	0/5	OMIM:617519
57731	SPTBN4	HP:0003623	Neonatal onset	4/6	OMIM:617519
57731	SPTBN4	HP:0011344	Severe global developmental delay	1/1	OMIM:617519
57731	SPTBN4	HP:0000666	Horizontal nystagmus	2/5	OMIM:617519
57731	SPTBN4	HP:0011471	Gastrostomy tube feeding in infancy	4/5	OMIM:617519
57731	SPTBN4	HP:0004463	Absent brainstem auditory responses	1/2	OMIM:617519
57731	SPTBN4	HP:0040081	Abnormal circulating creatine kinase concentration	0/1	OMIM:617519
57731	SPTBN4	HP:0006466	Ankle flexion contracture	2/5	OMIM:617519
57731	SPTBN4	HP:0000218	High palate	5/6	OMIM:617519
57731	SPTBN4	HP:0030319	Weakness of facial musculature	1/1	OMIM:617519
57731	SPTBN4	HP:0000407	Sensorineural hearing impairment	2/5	OMIM:617519
57798	GATAD1	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
57798	GATAD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614672
57798	GATAD1	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
57798	GATAD1	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
57798	GATAD1	HP:0003596	Middle age onset	2/2	OMIM:614672
57798	GATAD1	HP:0012664	Reduced left ventricular ejection fraction	2/2	OMIM:614672
57798	GATAD1	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
57798	GATAD1	HP:0003198	Myopathy	HP:0040283	ORPHA:154
57798	GATAD1	HP:0000969	Edema	HP:0040282	ORPHA:154
57798	GATAD1	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
57798	GATAD1	HP:0005110	Atrial fibrillation	1/2	OMIM:614672
57798	GATAD1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
57798	GATAD1	HP:0012378	Fatigue	HP:0040282	ORPHA:154
57798	GATAD1	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
57798	GATAD1	HP:0001644	Dilated cardiomyopathy	2/2	OMIM:614672
57798	GATAD1	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
57798	GATAD1	HP:0001635	Congestive heart failure	2/2	OMIM:614672
57798	GATAD1	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
57798	GATAD1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
57817	HAMP	HP:0001254	Lethargy	HP:0040282	ORPHA:79230
57817	HAMP	HP:0007440	Generalized hyperpigmentation	HP:0040282	ORPHA:79230
57817	HAMP	HP:0001395	Hepatic fibrosis	2/2	OMIM:613313
57817	HAMP	HP:0001394	Cirrhosis	2/2	OMIM:613313
57817	HAMP	HP:0012093	Abnormality of endocrine pancreas physiology	HP:0040283	ORPHA:79230
57817	HAMP	HP:0001324	Muscle weakness	HP:0040282	ORPHA:79230
57817	HAMP	HP:0000007	Autosomal recessive inheritance	-	OMIM:613313
57817	HAMP	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:79230
57817	HAMP	HP:0000135	Hypogonadism	HP:0040282	ORPHA:79230
57817	HAMP	HP:0000135	Hypogonadism	2/2	OMIM:613313
57817	HAMP	HP:0003452	Increased circulating iron concentration	-	OMIM:613313
57817	HAMP	HP:0002240	Hepatomegaly	-	OMIM:613313
57817	HAMP	HP:0001903	Anemia	-	OMIM:613313
57817	HAMP	HP:0000802	Impotence	HP:0040282	ORPHA:79230
57817	HAMP	HP:0003040	Arthropathy	HP:0040282	ORPHA:79230
57817	HAMP	HP:0011462	Young adult onset	2/2	OMIM:613313
57817	HAMP	HP:0000869	Secondary amenorrhea	2/2	OMIM:613313
57817	HAMP	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:79230
57817	HAMP	HP:0003281	Increased circulating ferritin concentration	2/2	OMIM:613313
57817	HAMP	HP:0003281	Increased circulating ferritin concentration	HP:0040281	ORPHA:79230
57817	HAMP	HP:0000953	Hyperpigmentation of the skin	2/2	OMIM:613313
57817	HAMP	HP:0000939	Osteoporosis	HP:0040283	ORPHA:79230
57817	HAMP	HP:0011031	Abnormality of iron homeostasis	HP:0040281	ORPHA:79230
57817	HAMP	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:613313
57817	HAMP	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:79230
57817	HAMP	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:79230
57817	HAMP	HP:0001635	Congestive heart failure	-	OMIM:613313
57817	HAMP	HP:0001638	Cardiomyopathy	-	OMIM:613313
57817	HAMP	HP:0012463	Elevated transferrin saturation	2/2	OMIM:613313
57817	HAMP	HP:0012463	Elevated transferrin saturation	HP:0040281	ORPHA:79230
57817	HAMP	HP:0001744	Splenomegaly	-	OMIM:613313
57822	GRHL3	HP:0002463	Language impairment	HP:0040282	ORPHA:101023
57822	GRHL3	HP:0010863	Receptive language delay	HP:0040282	ORPHA:99772
57822	GRHL3	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:101023
57822	GRHL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:606713
57822	GRHL3	HP:0000185	Cleft soft palate	HP:0040282	ORPHA:99772
57822	GRHL3	HP:0000193	Bifid uvula	HP:0040280	ORPHA:99771
57822	GRHL3	HP:0000193	Bifid uvula	HP:0040282	ORPHA:155878
57822	GRHL3	HP:0000193	Bifid uvula	HP:0040283	ORPHA:888
57822	GRHL3	HP:0000196	Lower lip pit	HP:0040282	ORPHA:888
57822	GRHL3	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:101023
57822	GRHL3	HP:0000175	Cleft palate	22/27	OMIM:606713
57822	GRHL3	HP:0000175	Cleft palate	HP:0040282	ORPHA:888
57822	GRHL3	HP:0410030	Cleft lip	HP:0040283	ORPHA:99771
57822	GRHL3	HP:0002033	Poor suck	HP:0040282	ORPHA:99772
57822	GRHL3	HP:0011819	Submucous cleft soft palate	HP:0040283	ORPHA:99771
57822	GRHL3	HP:0003577	Congenital onset	27/27	OMIM:606713
57822	GRHL3	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:99772
57822	GRHL3	HP:0008376	Nasal dysarthria	HP:0040282	ORPHA:99771
57822	GRHL3	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:99772
57822	GRHL3	HP:0009088	Speech articulation difficulties	HP:0040283	ORPHA:99772
57822	GRHL3	HP:0000674	Anodontia	1/27	OMIM:606713
57822	GRHL3	HP:0000689	Dental malocclusion	2/27	OMIM:606713
57822	GRHL3	HP:0000668	Hypodontia	1/27	OMIM:606713
57822	GRHL3	HP:0000668	Hypodontia	HP:0040283	ORPHA:888
57822	GRHL3	HP:0011469	Nasal regurgitation	HP:0040282	ORPHA:99772
57822	GRHL3	HP:0011469	Nasal regurgitation	HP:0040282	ORPHA:155878
57822	GRHL3	HP:0010296	Ankyloglossia	HP:0040283	ORPHA:888
57822	GRHL3	HP:0010286	Abnormal salivary gland morphology	HP:0040283	ORPHA:888
57822	GRHL3	HP:0100267	Lip pit	14/27	OMIM:606713
57822	GRHL3	HP:0100267	Lip pit	HP:0040281	ORPHA:888
57822	GRHL3	HP:0000220	Velopharyngeal insufficiency	HP:0040282	ORPHA:99772
57822	GRHL3	HP:0002870	Obstructive sleep apnea	HP:0040282	ORPHA:101023
57822	GRHL3	HP:0000204	Cleft upper lip	15/27	OMIM:606713
57822	GRHL3	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:888
57822	GRHL3	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:99772
57822	GRHL3	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:155878
57822	GRHL3	HP:0000365	Hearing impairment	HP:0040283	ORPHA:155878
57822	GRHL3	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:99772
57822	GRHL3	HP:5201016	Submucous cleft palate	HP:0040282	ORPHA:155878
57822	GRHL3	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:155878
57822	GRHL3	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:99772
57822	GRHL3	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:99772
57822	GRHL3	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:101023
57822	GRHL3	HP:0011219	Short face	HP:0040283	ORPHA:99772
57863	CADM3	HP:0001284	Areflexia	1/4	OMIM:619519
57863	CADM3	HP:0001239	Wrist flexion contracture	1/4	OMIM:619519
57863	CADM3	HP:0001348	Brisk reflexes	1/4	OMIM:619519
57863	CADM3	HP:0031189	Wrist drop	1/4	OMIM:619519
57863	CADM3	HP:0000006	Autosomal dominant inheritance	-	OMIM:619519
57863	CADM3	HP:0002650	Scoliosis	1/4	OMIM:619519
57863	CADM3	HP:0008959	Distal upper limb muscle weakness	1/4	OMIM:619519
57863	CADM3	HP:0008944	Distal lower limb amyotrophy	1/4	OMIM:619519
57863	CADM3	HP:0003394	Muscle spasm	1/4	OMIM:619519
57863	CADM3	HP:0003438	Absent Achilles reflex	1/4	OMIM:619519
57863	CADM3	HP:0003596	Middle age onset	1/4	OMIM:619519
57863	CADM3	HP:0003593	Infantile onset	1/4	OMIM:619519
57863	CADM3	HP:0033383	Decreased compound muscle action potential amplitude	1/1	OMIM:619519
57863	CADM3	HP:0003693	Distal amyotrophy	2/4	OMIM:619519
57863	CADM3	HP:0009830	Peripheral neuropathy	4/4	OMIM:619519
57863	CADM3	HP:0033466	Weak grip	1/4	OMIM:619519
57863	CADM3	HP:0007149	Distal upper limb amyotrophy	1/4	OMIM:619519
57863	CADM3	HP:0006886	Impaired distal vibration sensation	3/4	OMIM:619519
57863	CADM3	HP:0009027	Foot dorsiflexor weakness	3/4	OMIM:619519
57863	CADM3	HP:0009005	Weakness of the intrinsic hand muscles	2/4	OMIM:619519
57863	CADM3	HP:0031936	Delayed ability to walk	1/4	OMIM:619519
57863	CADM3	HP:0011463	Childhood onset	2/4	OMIM:619519
57863	CADM3	HP:0002936	Distal sensory impairment	1/4	OMIM:619519
57863	CADM3	HP:0001611	Hypernasal speech	1/4	OMIM:619519
57863	CADM3	HP:0001643	Patent ductus arteriosus	1/4	OMIM:619519
57863	CADM3	HP:0030319	Weakness of facial musculature	1/4	OMIM:619519
57863	CADM3	HP:0001763	Pes planus	1/4	OMIM:619519
58472	SQOR	HP:0001259	Coma	2/3	OMIM:619221
58472	SQOR	HP:0000007	Autosomal recessive inheritance	-	OMIM:619221
58472	SQOR	HP:0002076	Migraine	1/3	OMIM:619221
58472	SQOR	HP:0006846	Acute encephalopathy	3/3	OMIM:619221
58472	SQOR	HP:0012707	Elevated brain lactate level by MRS	2/2	OMIM:619221
58472	SQOR	HP:0003128	Lactic acidosis	3/3	OMIM:619221
58472	SQOR	HP:0003236	Elevated circulating creatine kinase concentration	3/3	OMIM:619221
58472	SQOR	HP:0032792	Tonic seizure	1/3	OMIM:619221
58484	NLRC4	HP:0001287	Meningitis	1/3	OMIM:616050
58484	NLRC4	HP:0002572	Episodic vomiting	-	OMIM:616050
58484	NLRC4	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:616050
58484	NLRC4	HP:0000006	Autosomal dominant inheritance	-	OMIM:616115
58484	NLRC4	HP:0000006	Autosomal dominant inheritance	-	OMIM:616050
58484	NLRC4	HP:0012177	Abnormal natural killer cell physiology	2/3	OMIM:616050
58484	NLRC4	HP:0025420	Diffuse alveolar hemorrhage	1/3	OMIM:616050
58484	NLRC4	HP:0003326	Myalgia	1/3	OMIM:616050
58484	NLRC4	HP:0011900	Hypofibrinogenemia	-	OMIM:616050
58484	NLRC4	HP:0003593	Infantile onset	-	OMIM:616115
58484	NLRC4	HP:0001025	Urticaria	1/1	OMIM:616050
58484	NLRC4	HP:0001025	Urticaria	-	OMIM:616115
58484	NLRC4	HP:0003623	Neonatal onset	3/3	OMIM:616050
58484	NLRC4	HP:0005521	Disseminated intravascular coagulation	1/3	OMIM:616050
58484	NLRC4	HP:0001945	Fever	-	OMIM:616115
58484	NLRC4	HP:0001945	Fever	1/1	OMIM:616050
58484	NLRC4	HP:0001954	Recurrent fever	3/3	OMIM:616050
58484	NLRC4	HP:0001903	Anemia	1/1	OMIM:616050
58484	NLRC4	HP:0004322	Short stature	2/3	OMIM:616050
58484	NLRC4	HP:0003073	Hypoalbuminemia	2/3	OMIM:616050
58484	NLRC4	HP:0004387	Enterocolitis	-	OMIM:616050
58484	NLRC4	HP:0011473	Villous atrophy	-	OMIM:616050
58484	NLRC4	HP:0040218	Reduced total natural killer cell count	2/3	OMIM:616050
58484	NLRC4	HP:0003281	Increased circulating ferritin concentration	4/4	OMIM:616050
58484	NLRC4	HP:0000988	Skin rash	1/3	OMIM:616050
58484	NLRC4	HP:0002829	Arthralgia	-	OMIM:616115
58484	NLRC4	HP:0002829	Arthralgia	1/3	OMIM:616050
58484	NLRC4	HP:0001508	Failure to thrive	3/3	OMIM:616050
58484	NLRC4	HP:0012378	Fatigue	1/1	OMIM:616050
58484	NLRC4	HP:0005208	Secretory diarrhea	2/3	OMIM:616050
58484	NLRC4	HP:0001744	Splenomegaly	1/1	OMIM:616050
58484	NLRC4	HP:0011227	Elevated circulating C-reactive protein concentration	4/4	OMIM:616050
58484	NLRC4	HP:0001873	Thrombocytopenia	1/1	OMIM:616050
58484	NLRC4	HP:0001876	Pancytopenia	1/3	OMIM:616050
58494	JAM2	HP:0002451	Limb dystonia	2/7	OMIM:618824
58494	JAM2	HP:0007325	Generalized dystonia	1/7	OMIM:618824
58494	JAM2	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:1980
58494	JAM2	HP:0001276	Hypertonia	5/7	OMIM:618824
58494	JAM2	HP:0001268	Mental deterioration	4/6	OMIM:618824
58494	JAM2	HP:0001250	Seizure	HP:0040282	ORPHA:1980
58494	JAM2	HP:0001250	Seizure	1/7	OMIM:618824
58494	JAM2	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:1980
58494	JAM2	HP:0001260	Dysarthria	3/7	OMIM:618824
58494	JAM2	HP:0007352	Cerebellar calcifications	6/7	OMIM:618824
58494	JAM2	HP:0007352	Cerebellar calcifications	HP:0040283	ORPHA:1980
58494	JAM2	HP:0001350	Slurred speech	HP:0040283	ORPHA:1980
58494	JAM2	HP:0001348	Brisk reflexes	5/7	OMIM:618824
58494	JAM2	HP:0001332	Dystonia	HP:0040283	ORPHA:1980
58494	JAM2	HP:0000012	Urinary urgency	HP:0040283	ORPHA:1980
58494	JAM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618824
58494	JAM2	HP:0001337	Tremor	HP:0040282	ORPHA:1980
58494	JAM2	HP:0001300	Parkinsonism	5/7	OMIM:618824
58494	JAM2	HP:0002015	Dysphagia	HP:0040283	ORPHA:1980
58494	JAM2	HP:0002067	Bradykinesia	HP:0040282	ORPHA:1980
58494	JAM2	HP:0002067	Bradykinesia	5/7	OMIM:618824
58494	JAM2	HP:0003394	Muscle spasm	HP:0040283	ORPHA:1980
58494	JAM2	HP:0002063	Rigidity	HP:0040282	ORPHA:1980
58494	JAM2	HP:0002063	Rigidity	3/7	OMIM:618824
58494	JAM2	HP:0002070	Limb ataxia	6/7	OMIM:618824
58494	JAM2	HP:0003388	Easy fatigability	HP:0040283	ORPHA:1980
58494	JAM2	HP:0003487	Babinski sign	5/7	OMIM:618824
58494	JAM2	HP:0002135	Basal ganglia calcification	7/7	OMIM:618824
58494	JAM2	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:1980
58494	JAM2	HP:0002344	Progressive neurologic deterioration	HP:0040282	ORPHA:1980
58494	JAM2	HP:0002354	Memory impairment	HP:0040283	ORPHA:1980
58494	JAM2	HP:0002321	Vertigo	HP:0040282	ORPHA:1980
58494	JAM2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:1980
58494	JAM2	HP:0002315	Headache	HP:0040282	ORPHA:1980
58494	JAM2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1980
58494	JAM2	HP:0025041	Thalamic calcification	5/7	OMIM:618824
58494	JAM2	HP:0007146	Bilateral basal ganglia lesions	HP:0040282	ORPHA:1980
58494	JAM2	HP:0032180	Abnormal circulating metabolite concentration	-	ORPHA:1980
58494	JAM2	HP:0002312	Clumsiness	HP:0040283	ORPHA:1980
58494	JAM2	HP:0002310	Orofacial dyskinesia	2/7	OMIM:618824
58494	JAM2	HP:0000639	Nystagmus	2/7	OMIM:618824
58494	JAM2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:1980
58494	JAM2	HP:0031987	Diminished ability to concentrate	HP:0040283	ORPHA:1980
58494	JAM2	HP:0000802	Impotence	HP:0040283	ORPHA:1980
58494	JAM2	HP:0000751	Personality changes	HP:0040282	ORPHA:1980
58494	JAM2	HP:0000739	Anxiety	HP:0040282	ORPHA:1980
58494	JAM2	HP:0000726	Dementia	HP:0040282	ORPHA:1980
58494	JAM2	HP:0000729	Autistic behavior	1/7	OMIM:618824
58494	JAM2	HP:0000709	Psychosis	HP:0040282	ORPHA:1980
58494	JAM2	HP:0011450	Unusual CNS infection	-	ORPHA:1980
58494	JAM2	HP:0000822	Hypertension	HP:0040283	ORPHA:1980
58494	JAM2	HP:0000298	Mask-like facies	HP:0040282	ORPHA:1980
58494	JAM2	HP:0000338	Hypomimic face	2/7	OMIM:618824
58495	OVOL2	HP:0009926	Epiphora	-	OMIM:122000
58495	OVOL2	HP:0009918	Ectopia pupillae	HP:0040283	OMIM:122000
58495	OVOL2	HP:0009918	Ectopia pupillae	HP:0040284	ORPHA:98973
58495	OVOL2	HP:0025358	Uveal ectropion	-	OMIM:122000
58495	OVOL2	HP:0025358	Uveal ectropion	HP:0040283	ORPHA:98973
58495	OVOL2	HP:0012040	Corneal stromal edema	HP:0040283	ORPHA:98973
58495	OVOL2	HP:0031159	Thinning of Descemet membrane	HP:0040283	OMIM:122000
58495	OVOL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:122000
58495	OVOL2	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:98973
58495	OVOL2	HP:0200026	Ocular pain	HP:0040284	ORPHA:98973
58495	OVOL2	HP:0200065	Chorioretinal degeneration	HP:0040284	ORPHA:98973
58495	OVOL2	HP:0001089	Iris atrophy	HP:0040283	OMIM:122000
58495	OVOL2	HP:0032122	Very low visual acuity	HP:0040283	ORPHA:98973
58495	OVOL2	HP:0100692	Increased corneal curvature	HP:0040283	ORPHA:98973
58495	OVOL2	HP:0000632	Lacrimation abnormality	HP:0040284	ORPHA:98973
58495	OVOL2	HP:0000646	Amblyopia	HP:0040283	ORPHA:98973
58495	OVOL2	HP:0000613	Photophobia	-	OMIM:122000
58495	OVOL2	HP:0000613	Photophobia	HP:0040284	ORPHA:98973
58495	OVOL2	HP:0000622	Blurred vision	HP:0040284	ORPHA:98973
58495	OVOL2	HP:0011488	Abnormal corneal endothelium morphology	-	OMIM:122000
58495	OVOL2	HP:0011491	Reduced number of corneal endothelial cells	HP:0040281	ORPHA:98973
58495	OVOL2	HP:0011490	Abnormal Descemet membrane morphology	-	OMIM:122000
58495	OVOL2	HP:0011490	Abnormal Descemet membrane morphology	HP:0040281	ORPHA:98973
58495	OVOL2	HP:0011483	Anterior synechiae of the anterior chamber	-	OMIM:122000
58495	OVOL2	HP:0011483	Anterior synechiae of the anterior chamber	HP:0040283	ORPHA:98973
58495	OVOL2	HP:0007957	Corneal opacity	-	OMIM:122000
58495	OVOL2	HP:0007957	Corneal opacity	HP:0040284	ORPHA:98973
58495	OVOL2	HP:0007915	Polymorphous posterior corneal dystrophy	-	OMIM:122000
58495	OVOL2	HP:0007906	Ocular hypertension	HP:0040284	ORPHA:98973
58495	OVOL2	HP:0000483	Astigmatism	HP:0040283	ORPHA:98973
58495	OVOL2	HP:0000501	Glaucoma	-	OMIM:122000
58495	OVOL2	HP:0000501	Glaucoma	HP:0040284	ORPHA:98973
58495	OVOL2	HP:0000585	Band keratopathy	-	OMIM:122000
58495	OVOL2	HP:0000565	Esotropia	HP:0040284	ORPHA:98973
58497	PRUNE1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:544469
58497	PRUNE1	HP:0001272	Cerebellar atrophy	2/13	OMIM:617481
58497	PRUNE1	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:544469
58497	PRUNE1	HP:0001285	Spastic tetraparesis	14/15	OMIM:617481
58497	PRUNE1	HP:0001285	Spastic tetraparesis	HP:0040281	ORPHA:544469
58497	PRUNE1	HP:0001250	Seizure	6/13	OMIM:617481
58497	PRUNE1	HP:0001250	Seizure	HP:0040282	ORPHA:544469
58497	PRUNE1	HP:0001252	Hypotonia	15/15	OMIM:617481
58497	PRUNE1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:544469
58497	PRUNE1	HP:0002540	Inability to walk	15/15	OMIM:617481
58497	PRUNE1	HP:0002540	Inability to walk	HP:0040281	ORPHA:544469
58497	PRUNE1	HP:0002500	Abnormal cerebral white matter morphology	5/13	OMIM:617481
58497	PRUNE1	HP:0001347	Hyperreflexia	12/15	OMIM:617481
58497	PRUNE1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:544469
58497	PRUNE1	HP:0001357	Plagiocephaly	13/15	OMIM:617481
58497	PRUNE1	HP:0001357	Plagiocephaly	HP:0040282	ORPHA:544469
58497	PRUNE1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:544469
58497	PRUNE1	HP:0033725	Thin corpus callosum	HP:0040282	ORPHA:544469
58497	PRUNE1	HP:0001344	Absent speech	15/15	OMIM:617481
58497	PRUNE1	HP:0001344	Absent speech	HP:0040281	ORPHA:544469
58497	PRUNE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617481
58497	PRUNE1	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:544469
58497	PRUNE1	HP:0002650	Scoliosis	-	OMIM:617481
58497	PRUNE1	HP:0002650	Scoliosis	HP:0040282	ORPHA:544469
58497	PRUNE1	HP:0000189	Narrow palate	HP:0040284	OMIM:617481
58497	PRUNE1	HP:0008936	Axial hypotonia	HP:0040281	ORPHA:544469
58497	PRUNE1	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:544469
58497	PRUNE1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:544469
58497	PRUNE1	HP:0002079	Hypoplasia of the corpus callosum	4/13	OMIM:617481
58497	PRUNE1	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:544469
58497	PRUNE1	HP:0002120	Cerebral cortical atrophy	5/13	OMIM:617481
58497	PRUNE1	HP:0002188	Delayed CNS myelination	5/13	OMIM:617481
58497	PRUNE1	HP:0002187	Intellectual disability, profound	15/15	OMIM:617481
58497	PRUNE1	HP:0002169	Clonus	-	OMIM:617481
58497	PRUNE1	HP:0002169	Clonus	HP:0040282	ORPHA:544469
58497	PRUNE1	HP:0003577	Congenital onset	-	OMIM:617481
58497	PRUNE1	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:544469
58497	PRUNE1	HP:0003676	Progressive	-	OMIM:617481
58497	PRUNE1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:544469
58497	PRUNE1	HP:0002313	Spastic paraparesis	HP:0040284	ORPHA:544469
58497	PRUNE1	HP:0000648	Optic atrophy	2/4	OMIM:617481
58497	PRUNE1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:544469
58497	PRUNE1	HP:0012736	Profound global developmental delay	15/15	OMIM:617481
58497	PRUNE1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:544469
58497	PRUNE1	HP:0003202	Skeletal muscle atrophy	7/8	OMIM:617481
58497	PRUNE1	HP:0034392	Joint contracture	7/8	OMIM:617481
58497	PRUNE1	HP:0000252	Microcephaly	15/15	OMIM:617481
58497	PRUNE1	HP:0000252	Microcephaly	HP:0040282	ORPHA:544469
58497	PRUNE1	HP:0001558	Decreased fetal movement	-	OMIM:617481
58497	PRUNE1	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:544469
58497	PRUNE1	HP:0000369	Low-set ears	HP:0040283	ORPHA:544469
58497	PRUNE1	HP:0000340	Sloping forehead	-	OMIM:617481
58497	PRUNE1	HP:0000347	Micrognathia	HP:0040283	ORPHA:544469
58497	PRUNE1	HP:0032794	Myoclonic seizure	HP:0040282	ORPHA:544469
58497	PRUNE1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:544469
58497	PRUNE1	HP:0000400	Macrotia	-	OMIM:617481
58497	PRUNE1	HP:0000488	Retinopathy	HP:0040284	ORPHA:544469
58497	PRUNE1	HP:0012448	Delayed myelination	HP:0040282	ORPHA:544469
58497	PRUNE1	HP:0001776	Bilateral talipes equinovarus	HP:0040283	ORPHA:544469
58497	PRUNE1	HP:0000411	Protruding ear	-	OMIM:617481
58497	PRUNE1	HP:0001762	Talipes equinovarus	-	OMIM:617481
58497	PRUNE1	HP:0000518	Cataract	3/9	OMIM:617481
58497	PRUNE1	HP:0000518	Cataract	HP:0040283	ORPHA:544469
58497	PRUNE1	HP:0000520	Proptosis	-	OMIM:617481
58499	ZNF462	HP:0009897	Horizontal crus of helix	1/24	OMIM:618619
58499	ZNF462	HP:0008551	Microtia	1/24	OMIM:618619
58499	ZNF462	HP:0001290	Generalized hypotonia	12/24	OMIM:618619
58499	ZNF462	HP:0001274	Agenesis of corpus callosum	3/15	OMIM:618619
58499	ZNF462	HP:0001270	Motor delay	HP:0040282	ORPHA:502430
58499	ZNF462	HP:0001256	Intellectual disability, mild	-	OMIM:618619
58499	ZNF462	HP:0001252	Hypotonia	HP:0040282	ORPHA:502430
58499	ZNF462	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:502430
58499	ZNF462	HP:0002553	Highly arched eyebrow	12/24	OMIM:618619
58499	ZNF462	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:502430
58499	ZNF462	HP:0000006	Autosomal dominant inheritance	-	OMIM:618619
58499	ZNF462	HP:0002079	Hypoplasia of the corpus callosum	3/15	OMIM:618619
58499	ZNF462	HP:0002119	Ventriculomegaly	1/15	OMIM:618619
58499	ZNF462	HP:0009623	Proximal placement of thumb	HP:0040284	ORPHA:502430
58499	ZNF462	HP:0009623	Proximal placement of thumb	1/24	OMIM:618619
58499	ZNF462	HP:0002263	Exaggerated cupid's bow	HP:0040282	ORPHA:502430
58499	ZNF462	HP:0002263	Exaggerated cupid's bow	13/24	OMIM:618619
58499	ZNF462	HP:0003593	Infantile onset	-	OMIM:618619
58499	ZNF462	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:502430
58499	ZNF462	HP:0011968	Feeding difficulties	12/24	OMIM:618619
58499	ZNF462	HP:0033454	Tube feeding	HP:0040283	ORPHA:502430
58499	ZNF462	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:502430
58499	ZNF462	HP:0004209	Clinodactyly of the 5th finger	3/24	OMIM:618619
58499	ZNF462	HP:0011342	Mild global developmental delay	-	OMIM:618619
58499	ZNF462	HP:0006989	Dysplastic corpus callosum	HP:0040283	ORPHA:502430
58499	ZNF462	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:502430
58499	ZNF462	HP:0000750	Delayed speech and language development	-	OMIM:618619
58499	ZNF462	HP:0000729	Autistic behavior	HP:0040282	ORPHA:502430
58499	ZNF462	HP:0000729	Autistic behavior	8/24	OMIM:618619
58499	ZNF462	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:502430
58499	ZNF462	HP:0003196	Short nose	HP:0040282	ORPHA:502430
58499	ZNF462	HP:0003196	Short nose	11/24	OMIM:618619
58499	ZNF462	HP:0004467	Preauricular pit	1/24	OMIM:618619
58499	ZNF462	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:502430
58499	ZNF462	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:502430
58499	ZNF462	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:502430
58499	ZNF462	HP:0000954	Single transverse palmar crease	2/24	OMIM:618619
58499	ZNF462	HP:0000286	Epicanthus	HP:0040282	ORPHA:502430
58499	ZNF462	HP:0000286	Epicanthus	11/24	OMIM:618619
58499	ZNF462	HP:0000289	Broad philtrum	HP:0040282	ORPHA:502430
58499	ZNF462	HP:0000289	Broad philtrum	13/24	OMIM:618619
58499	ZNF462	HP:0031348	Dextrotransposition of the great arteries	1/24	OMIM:618619
58499	ZNF462	HP:0002870	Obstructive sleep apnea	HP:0040283	ORPHA:502430
58499	ZNF462	HP:0030048	Colpocephaly	1/15	OMIM:618619
58499	ZNF462	HP:0000378	Cupped ear	1/24	OMIM:618619
58499	ZNF462	HP:0000396	Overfolded helix	1/24	OMIM:618619
58499	ZNF462	HP:0000365	Hearing impairment	HP:0040283	ORPHA:502430
58499	ZNF462	HP:0000365	Hearing impairment	3/24	OMIM:618619
58499	ZNF462	HP:0000356	Abnormality of the outer ear	HP:0040282	ORPHA:502430
58499	ZNF462	HP:0000369	Low-set ears	HP:0040283	ORPHA:502430
58499	ZNF462	HP:0000369	Low-set ears	6/24	OMIM:618619
58499	ZNF462	HP:0001647	Bicuspid aortic valve	1/24	OMIM:618619
58499	ZNF462	HP:0000316	Hypertelorism	HP:0040283	ORPHA:502430
58499	ZNF462	HP:0001629	Ventricular septal defect	4/24	OMIM:618619
58499	ZNF462	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:502430
58499	ZNF462	HP:0001712	Left ventricular hypertrophy	1/24	OMIM:618619
58499	ZNF462	HP:0005274	Prominent nasal tip	HP:0040282	ORPHA:502430
58499	ZNF462	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:502430
58499	ZNF462	HP:0000494	Downslanted palpebral fissures	14/24	OMIM:618619
58499	ZNF462	HP:0000463	Anteverted nares	11/24	OMIM:618619
58499	ZNF462	HP:0000411	Protruding ear	1/24	OMIM:618619
58499	ZNF462	HP:0005487	Prominent metopic ridge	HP:0040282	ORPHA:502430
58499	ZNF462	HP:0005487	Prominent metopic ridge	-	OMIM:618619
58499	ZNF462	HP:0000508	Ptosis	HP:0040281	ORPHA:502430
58499	ZNF462	HP:0000508	Ptosis	20/24	OMIM:618619
58499	ZNF462	HP:0001804	Hypoplastic fingernail	1/24	OMIM:618619
58508	KMT2C	HP:0001182	Tapered finger	HP:0040284	ORPHA:261652
58508	KMT2C	HP:0002463	Language impairment	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0009909	Uplifted earlobe	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0001290	Generalized hypotonia	HP:0040284	OMIM:617768
58508	KMT2C	HP:0001270	Motor delay	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0001250	Seizure	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0001250	Seizure	HP:0040284	OMIM:617768
58508	KMT2C	HP:0001252	Hypotonia	HP:0040284	ORPHA:261652
58508	KMT2C	HP:0001252	Hypotonia	3/6	OMIM:617768
58508	KMT2C	HP:0001249	Intellectual disability	HP:0040281	ORPHA:261652
58508	KMT2C	HP:0001249	Intellectual disability	6/6	OMIM:617768
58508	KMT2C	HP:0001263	Global developmental delay	HP:0040281	ORPHA:261652
58508	KMT2C	HP:0001263	Global developmental delay	6/6	OMIM:617768
58508	KMT2C	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:261652
58508	KMT2C	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0025352	Typically de novo	-	OMIM:617768
58508	KMT2C	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:261652
58508	KMT2C	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0001357	Plagiocephaly	HP:0040284	ORPHA:261652
58508	KMT2C	HP:0001357	Plagiocephaly	1/6	OMIM:617768
58508	KMT2C	HP:0000006	Autosomal dominant inheritance	-	OMIM:617768
58508	KMT2C	HP:0002650	Scoliosis	1/6	OMIM:617768
58508	KMT2C	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0000179	Thick lower lip vermilion	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0000193	Bifid uvula	1/6	OMIM:617768
58508	KMT2C	HP:0000164	Abnormality of the dentition	HP:0040284	ORPHA:261652
58508	KMT2C	HP:0002779	Tracheomalacia	HP:0040284	ORPHA:261652
58508	KMT2C	HP:0002719	Recurrent infections	HP:0040282	ORPHA:261652
58508	KMT2C	HP:0002023	Anal atresia	HP:0040284	ORPHA:261652
58508	KMT2C	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0011800	Midface retrusion	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0011800	Midface retrusion	2/3	OMIM:617768
58508	KMT2C	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0033127	Abnormality of the musculoskeletal system	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0002171	Gliosis	HP:0040284	ORPHA:261652
58508	KMT2C	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0100716	Self-injurious behavior	1/6	OMIM:617768
58508	KMT2C	HP:0200005	Abnormal shape of the palpebral fissure	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0006863	Severe expressive language delay	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0011351	Moderate receptive language delay	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0000695	Natal tooth	HP:0040284	ORPHA:261652
58508	KMT2C	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:261652
58508	KMT2C	HP:0001999	Abnormal facial shape	-	OMIM:617768
58508	KMT2C	HP:0004322	Short stature	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0000750	Delayed speech and language development	-	OMIM:617768
58508	KMT2C	HP:0000729	Autistic behavior	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0000729	Autistic behavior	3/6	OMIM:617768
58508	KMT2C	HP:0000708	Atypical behavior	HP:0040282	ORPHA:261652
58508	KMT2C	HP:0000826	Precocious puberty	HP:0040284	ORPHA:261652
58508	KMT2C	HP:0000974	Hyperextensible skin	HP:0040284	ORPHA:261652
58508	KMT2C	HP:0002808	Kyphosis	2/6	OMIM:617768
58508	KMT2C	HP:0000252	Microcephaly	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0000252	Microcephaly	-	OMIM:617768
58508	KMT2C	HP:0000248	Brachycephaly	HP:0040284	ORPHA:261652
58508	KMT2C	HP:0001548	Overgrowth	HP:0040282	ORPHA:261652
58508	KMT2C	HP:0000232	Everted lower lip vermilion	11/13	OMIM:617768
58508	KMT2C	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:261652
58508	KMT2C	HP:0001508	Failure to thrive	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0001520	Large for gestational age	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0001510	Growth delay	-	OMIM:617768
58508	KMT2C	HP:0000365	Hearing impairment	HP:0040283	ORPHA:261652
58508	KMT2C	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:261652
58508	KMT2C	HP:0000519	Developmental cataract	HP:0040284	ORPHA:261652
58508	KMT2C	HP:0000574	Thick eyebrow	-	OMIM:617768
58508	KMT2C	HP:0000540	Hypermetropia	HP:0040284	ORPHA:261652
58513	EPS15L1	HP:0001171	Split hand	HP:0040283	ORPHA:2440
58513	EPS15L1	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:2440
58513	EPS15L1	HP:0012165	Oligodactyly	HP:0040281	ORPHA:2440
58513	EPS15L1	HP:0004058	Hand monodactyly	HP:0040282	ORPHA:2440
58513	EPS15L1	HP:0004050	Absent hand	HP:0040283	ORPHA:2440
58513	EPS15L1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2440
58513	EPS15L1	HP:0000526	Aniridia	HP:0040283	ORPHA:2440
58513	EPS15L1	HP:0001839	Split foot	HP:0040282	ORPHA:2440
58528	RRAGD	HP:0002487	Hyperkinetic movements	HP:0040282	ORPHA:73224
58528	RRAGD	HP:0003739	Myoclonic spasms	HP:0040282	ORPHA:73224
58528	RRAGD	HP:0001281	Tetany	3/8	OMIM:620152
58528	RRAGD	HP:0001250	Seizure	2/8	OMIM:620152
58528	RRAGD	HP:0000006	Autosomal dominant inheritance	-	OMIM:620152
58528	RRAGD	HP:0000121	Nephrocalcinosis	6/9	OMIM:620152
58528	RRAGD	HP:0000121	Nephrocalcinosis	HP:0040282	ORPHA:73224
58528	RRAGD	HP:0000103	Polyuria	5/9	OMIM:620152
58528	RRAGD	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:73224
58528	RRAGD	HP:0100598	Pulmonary edema	HP:0040282	ORPHA:73224
58528	RRAGD	HP:0003472	Hypocalcemic tetany	HP:0040282	ORPHA:73224
58528	RRAGD	HP:0002150	Hypercalciuria	HP:0040281	ORPHA:73224
58528	RRAGD	HP:0003593	Infantile onset	2/9	OMIM:620152
58528	RRAGD	HP:0003527	Hyperprostaglandinuria	HP:0040282	ORPHA:73224
58528	RRAGD	HP:0003621	Juvenile onset	3/9	OMIM:620152
58528	RRAGD	HP:0012608	Hypermagnesiuria	HP:0040281	ORPHA:73224
58528	RRAGD	HP:0001942	Metabolic acidosis	4/8	OMIM:620152
58528	RRAGD	HP:0001960	Hypokalemic metabolic alkalosis	HP:0040281	ORPHA:73224
58528	RRAGD	HP:0012664	Reduced left ventricular ejection fraction	5/6	OMIM:620152
58528	RRAGD	HP:0011463	Childhood onset	3/9	OMIM:620152
58528	RRAGD	HP:0000859	Increased circulating aldosterone concentration	HP:0040282	ORPHA:73224
58528	RRAGD	HP:0034307	Elevated left ventricular end-diastolic diameter	5/6	OMIM:620152
58528	RRAGD	HP:0002829	Arthralgia	HP:0040282	ORPHA:73224
58528	RRAGD	HP:0011038	Abnormal renal tubular resorption	HP:0040282	ORPHA:73224
58528	RRAGD	HP:0006559	Hepatic calcification	HP:0040282	ORPHA:73224
58528	RRAGD	HP:0002917	Hypomagnesemia	HP:0040281	ORPHA:73224
58528	RRAGD	HP:0002917	Hypomagnesemia	9/9	OMIM:620152
58528	RRAGD	HP:0002902	Hyponatremia	4/9	OMIM:620152
58528	RRAGD	HP:0002900	Hypokalemia	4/9	OMIM:620152
58528	RRAGD	HP:0002901	Hypocalcemia	4/9	OMIM:620152
58528	RRAGD	HP:0002901	Hypocalcemia	HP:0040281	ORPHA:73224
58528	RRAGD	HP:0001698	Pericardial effusion	HP:0040282	ORPHA:73224
58528	RRAGD	HP:0001645	Sudden cardiac death	HP:0040282	ORPHA:73224
58528	RRAGD	HP:0001644	Dilated cardiomyopathy	6/9	OMIM:620152
58528	RRAGD	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:73224
58528	RRAGD	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:73224
58528	RRAGD	HP:0025708	Early young adult onset	1/9	OMIM:620152
59067	IL21	HP:0000007	Autosomal recessive inheritance	-	OMIM:615767
59067	IL21	HP:0002037	Inflammation of the large intestine	1/1	OMIM:615767
59067	IL21	HP:0011839	Abnormal T cell count	0/1	OMIM:615767
59067	IL21	HP:0003593	Infantile onset	1/1	OMIM:615767
59067	IL21	HP:0002205	Recurrent respiratory infections	1/1	OMIM:615767
59067	IL21	HP:0100759	Clubbing of fingers	1/1	OMIM:615767
59067	IL21	HP:0033343	Mucoid diarrhea	1/1	OMIM:615767
59067	IL21	HP:0032154	Aphthous ulcer	1/1	OMIM:615767
59067	IL21	HP:0004315	Decreased circulating IgG concentration	1/1	OMIM:615767
59067	IL21	HP:0003212	Increased circulating IgE concentration	1/1	OMIM:615767
59067	IL21	HP:0100280	Crohn's disease	1/1	OMIM:615767
59067	IL21	HP:0001508	Failure to thrive	1/1	OMIM:615767
59067	IL21	HP:0001510	Growth delay	1/1	OMIM:615767
59067	IL21	HP:0012378	Fatigue	1/1	OMIM:615767
59067	IL21	HP:0030388	Decreased class-switched memory B cell proportion	1/1	OMIM:615767
59335	PRDM12	HP:0002495	Impaired vibratory sensation	1/14	OMIM:616488
59335	PRDM12	HP:0002579	Gastrointestinal dysmotility	0/18	OMIM:616488
59335	PRDM12	HP:0001249	Intellectual disability	1/20	OMIM:616488
59335	PRDM12	HP:0001265	Hyporeflexia	5/17	OMIM:616488
59335	PRDM12	HP:0000007	Autosomal recessive inheritance	-	OMIM:616488
59335	PRDM12	HP:0033748	Hypoesthesia	6/14	OMIM:616488
59335	PRDM12	HP:0003593	Infantile onset	17/18	OMIM:616488
59335	PRDM12	HP:0007021	Pain insensitivity	21/21	OMIM:616488
59335	PRDM12	HP:0010831	Impaired proprioception	1/14	OMIM:616488
59335	PRDM12	HP:0010829	Impaired temperature sensation	21/21	OMIM:616488
59335	PRDM12	HP:0000633	Decreased lacrimation	9/19	OMIM:616488
59335	PRDM12	HP:0011463	Childhood onset	1/18	OMIM:616488
59335	PRDM12	HP:0004409	Hyposmia	0/18	OMIM:616488
59335	PRDM12	HP:0012804	Corneal ulceration	-	OMIM:616488
59335	PRDM12	HP:0000966	Hypohidrosis	9/20	OMIM:616488
59335	PRDM12	HP:0001581	Recurrent skin infections	16/20	OMIM:616488
59335	PRDM12	HP:0000407	Sensorineural hearing impairment	0/20	OMIM:616488
59335	PRDM12	HP:0000559	Corneal scarring	15/20	OMIM:616488
59336	PRDM13	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
59336	PRDM13	HP:0001290	Generalized hypotonia	3/3	OMIM:619761
59336	PRDM13	HP:0001276	Hypertonia	1/3	OMIM:619761
59336	PRDM13	HP:0001270	Motor delay	2/3	OMIM:619761
59336	PRDM13	HP:0001270	Motor delay	6/6	OMIM:619909
59336	PRDM13	HP:0001250	Seizure	3/6	OMIM:619909
59336	PRDM13	HP:0001250	Seizure	1/3	OMIM:619761
59336	PRDM13	HP:0001252	Hypotonia	1/3	OMIM:619761
59336	PRDM13	HP:0001249	Intellectual disability	3/3	OMIM:619761
59336	PRDM13	HP:0001265	Hyporeflexia	2/3	OMIM:619761
59336	PRDM13	HP:0001265	Hyporeflexia	2/4	OMIM:619909
59336	PRDM13	HP:0001263	Global developmental delay	4/4	OMIM:619909
59336	PRDM13	HP:0001263	Global developmental delay	3/3	OMIM:619761
59336	PRDM13	HP:0002510	Spastic tetraplegia	2/4	OMIM:619909
59336	PRDM13	HP:0002509	Limb hypertonia	6/6	OMIM:619909
59336	PRDM13	HP:0000044	Hypogonadotropic hypogonadism	1/3	OMIM:619761
59336	PRDM13	HP:0000054	Micropenis	2/2	OMIM:619761
59336	PRDM13	HP:0001347	Hyperreflexia	1/3	OMIM:619761
59336	PRDM13	HP:0000028	Cryptorchidism	2/2	OMIM:619761
59336	PRDM13	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
59336	PRDM13	HP:0000007	Autosomal recessive inheritance	-	OMIM:619909
59336	PRDM13	HP:0000007	Autosomal recessive inheritance	-	OMIM:619761
59336	PRDM13	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
59336	PRDM13	HP:0001310	Dysmetria	3/3	OMIM:619761
59336	PRDM13	HP:0001320	Cerebellar vermis hypoplasia	5/5	OMIM:619909
59336	PRDM13	HP:0002650	Scoliosis	3/3	OMIM:619761
59336	PRDM13	HP:0001321	Cerebellar hypoplasia	2/3	OMIM:619761
59336	PRDM13	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
59336	PRDM13	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
59336	PRDM13	HP:0008936	Axial hypotonia	6/6	OMIM:619909
59336	PRDM13	HP:0012110	Hypoplasia of the pons	-	OMIM:619909
59336	PRDM13	HP:0002020	Gastroesophageal reflux	2/8	OMIM:619909
59336	PRDM13	HP:0002015	Dysphagia	4/6	OMIM:619909
59336	PRDM13	HP:0002093	Respiratory insufficiency	5/8	OMIM:619909
59336	PRDM13	HP:0002066	Gait ataxia	1/3	OMIM:619761
59336	PRDM13	HP:0002075	Dysdiadochokinesis	3/3	OMIM:619761
59336	PRDM13	HP:0002136	Broad-based gait	3/3	OMIM:619761
59336	PRDM13	HP:0002268	Paroxysmal dystonia	1/5	OMIM:619909
59336	PRDM13	HP:0003593	Infantile onset	3/3	OMIM:619761
59336	PRDM13	HP:0003577	Congenital onset	8/8	OMIM:619909
59336	PRDM13	HP:0002365	Hypoplasia of the brainstem	6/8	OMIM:619909
59336	PRDM13	HP:0003621	Juvenile onset	8/19	OMIM:180100
59336	PRDM13	HP:0000639	Nystagmus	1/3	OMIM:619761
59336	PRDM13	HP:0000639	Nystagmus	1/6	OMIM:619909
59336	PRDM13	HP:0000662	Nyctalopia	26/28	OMIM:180100
59336	PRDM13	HP:0011463	Childhood onset	3/19	OMIM:180100
59336	PRDM13	HP:0011462	Young adult onset	8/19	OMIM:180100
59336	PRDM13	HP:0100307	Cerebellar hemisphere hypoplasia	6/8	OMIM:619909
59336	PRDM13	HP:0000823	Delayed puberty	3/3	OMIM:619761
59336	PRDM13	HP:0000286	Epicanthus	1/3	OMIM:619761
59336	PRDM13	HP:0000286	Epicanthus	2/8	OMIM:619909
59336	PRDM13	HP:0000294	Low anterior hairline	1/8	OMIM:619909
59336	PRDM13	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
59336	PRDM13	HP:0002808	Kyphosis	1/5	OMIM:619909
59336	PRDM13	HP:0001561	Polyhydramnios	1/3	OMIM:619761
59336	PRDM13	HP:0001511	Intrauterine growth retardation	1/3	OMIM:619761
59336	PRDM13	HP:0001511	Intrauterine growth retardation	2/8	OMIM:619909
59336	PRDM13	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
59336	PRDM13	HP:0001684	Secundum atrial septal defect	1/8	OMIM:619909
59336	PRDM13	HP:0000316	Hypertelorism	1/8	OMIM:619909
59336	PRDM13	HP:0001643	Patent ductus arteriosus	1/8	OMIM:619909
59336	PRDM13	HP:0001629	Ventricular septal defect	1/8	OMIM:619909
59336	PRDM13	HP:0000308	Microretrognathia	1/8	OMIM:619909
59336	PRDM13	HP:0000486	Strabismus	1/3	OMIM:619761
59336	PRDM13	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
59336	PRDM13	HP:0030344	Decreased circulating luteinizing hormone level	3/3	OMIM:619761
59336	PRDM13	HP:0030341	Decreased circulating follicle stimulating hormone concentration	3/3	OMIM:619761
59336	PRDM13	HP:0000582	Upslanted palpebral fissure	1/8	OMIM:619909
59336	PRDM13	HP:0000575	Scotoma	5/18	OMIM:180100
59336	PRDM13	HP:0000543	Optic disc pallor	1/1	OMIM:180100
59336	PRDM13	HP:0000545	Myopia	-	OMIM:180100
59341	TRPV4	HP:0001156	Brachydactyly	15/21	OMIM:156530
59341	TRPV4	HP:0001156	Brachydactyly	HP:0040281	ORPHA:85169
59341	TRPV4	HP:0001156	Brachydactyly	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0003795	Short middle phalanx of toe	-	OMIM:606835
59341	TRPV4	HP:0002460	Distal muscle weakness	-	OMIM:600175
59341	TRPV4	HP:0007311	Short stepped shuffling gait	HP:0040282	ORPHA:86820
59341	TRPV4	HP:0007269	Spinal muscular atrophy	-	OMIM:600175
59341	TRPV4	HP:0007230	Decreased distal sensory nerve action potential	-	OMIM:606071
59341	TRPV4	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0009882	Short distal phalanx of finger	-	OMIM:606835
59341	TRPV4	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:85169
59341	TRPV4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
59341	TRPV4	HP:0003724	Shoulder girdle muscle atrophy	-	OMIM:606071
59341	TRPV4	HP:0001293	Cranial nerve compression	-	OMIM:131300
59341	TRPV4	HP:0100818	Long thorax	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0001270	Motor delay	-	OMIM:181405
59341	TRPV4	HP:0001288	Gait disturbance	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0001284	Areflexia	40/42	OMIM:606071
59341	TRPV4	HP:0001284	Areflexia	20/20	OMIM:600175
59341	TRPV4	HP:0001284	Areflexia	-	OMIM:181405
59341	TRPV4	HP:0001252	Hypotonia	HP:0040281	ORPHA:1216
59341	TRPV4	HP:0001252	Hypotonia	2/7	OMIM:615777
59341	TRPV4	HP:0001249	Intellectual disability	0/10	OMIM:113500
59341	TRPV4	HP:0001249	Intellectual disability	0/3	OMIM:168400
59341	TRPV4	HP:0001249	Intellectual disability	0/2	OMIM:184095
59341	TRPV4	HP:0001249	Intellectual disability	5/7	OMIM:615777
59341	TRPV4	HP:0001248	Short tubular bones of the hand	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0001265	Hyporeflexia	-	OMIM:600175
59341	TRPV4	HP:0001265	Hyporeflexia	-	OMIM:181405
59341	TRPV4	HP:0001265	Hyporeflexia	-	OMIM:606071
59341	TRPV4	HP:0001263	Global developmental delay	-	OMIM:615777
59341	TRPV4	HP:6000653	Crescent-shaped iliac bone	-	OMIM:156530
59341	TRPV4	HP:0100864	Short femoral neck	7/7	OMIM:184095
59341	TRPV4	HP:0100864	Short femoral neck	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0100864	Short femoral neck	-	OMIM:113500
59341	TRPV4	HP:0031058	Impairment of activities of daily living	HP:0040282	ORPHA:86820
59341	TRPV4	HP:0001216	Delayed ossification of carpal bones	4/4	OMIM:184252
59341	TRPV4	HP:0002515	Waddling gait	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0002515	Waddling gait	54/102	OMIM:131300
59341	TRPV4	HP:0002515	Waddling gait	2/5	OMIM:184252
59341	TRPV4	HP:0003829	Typified by incomplete penetrance	-	OMIM:606071
59341	TRPV4	HP:0003829	Typified by incomplete penetrance	-	OMIM:600175
59341	TRPV4	HP:0003829	Typified by incomplete penetrance	-	OMIM:181405
59341	TRPV4	HP:0008812	Flattened femoral head	HP:0040282	ORPHA:86820
59341	TRPV4	HP:0008800	Limited hip movement	HP:0040282	ORPHA:86820
59341	TRPV4	HP:0001371	Flexion contracture	2/2	OMIM:156530
59341	TRPV4	HP:0001371	Flexion contracture	3/3	OMIM:168400
59341	TRPV4	HP:0001385	Hip dysplasia	-	OMIM:181405
59341	TRPV4	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1216
59341	TRPV4	HP:0001387	Joint stiffness	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0001382	Joint hypermobility	-	OMIM:615777
59341	TRPV4	HP:0000020	Urinary incontinence	-	OMIM:606071
59341	TRPV4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
59341	TRPV4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
59341	TRPV4	HP:0006239	Shortening of all middle phalanges of the toes	HP:0040281	ORPHA:85169
59341	TRPV4	HP:0008873	Disproportionate short-limb short stature	16/22	OMIM:156530
59341	TRPV4	HP:0008843	Hip osteoarthritis	HP:0040282	ORPHA:86820
59341	TRPV4	HP:0008833	Irregular acetabular roof	-	OMIM:184252
59341	TRPV4	HP:0003907	Abnormal humeral metaphysis morphology	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0003911	Flared humeral metaphysis	-	OMIM:156530
59341	TRPV4	HP:0002663	Delayed epiphyseal ossification	HP:0040281	ORPHA:93314
59341	TRPV4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
59341	TRPV4	HP:0002656	Epiphyseal dysplasia	13/18	OMIM:156530
59341	TRPV4	HP:0001324	Muscle weakness	40/96	OMIM:131300
59341	TRPV4	HP:0002657	Spondylometaphyseal dysplasia	-	OMIM:184252
59341	TRPV4	HP:0002655	Spondyloepiphyseal dysplasia	7/7	OMIM:184095
59341	TRPV4	HP:0000012	Urinary urgency	-	OMIM:606071
59341	TRPV4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
59341	TRPV4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
59341	TRPV4	HP:0000006	Autosomal dominant inheritance	-	OMIM:600175
59341	TRPV4	HP:0000006	Autosomal dominant inheritance	-	OMIM:184252
59341	TRPV4	HP:0000006	Autosomal dominant inheritance	-	OMIM:181405
59341	TRPV4	HP:0000006	Autosomal dominant inheritance	-	OMIM:168400
59341	TRPV4	HP:0000006	Autosomal dominant inheritance	-	OMIM:606835
59341	TRPV4	HP:0000006	Autosomal dominant inheritance	-	OMIM:606071
59341	TRPV4	HP:0000006	Autosomal dominant inheritance	-	OMIM:113500
59341	TRPV4	HP:0000006	Autosomal dominant inheritance	-	OMIM:156530
59341	TRPV4	HP:0000006	Autosomal dominant inheritance	-	OMIM:617383
59341	TRPV4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
59341	TRPV4	HP:0000006	Autosomal dominant inheritance	-	OMIM:184095
59341	TRPV4	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0002650	Scoliosis	-	OMIM:113500
59341	TRPV4	HP:0002650	Scoliosis	12/20	OMIM:600175
59341	TRPV4	HP:0002650	Scoliosis	-	OMIM:181405
59341	TRPV4	HP:0002650	Scoliosis	3/3	OMIM:168400
59341	TRPV4	HP:0002650	Scoliosis	5/22	OMIM:156530
59341	TRPV4	HP:0002650	Scoliosis	26/40	OMIM:606071
59341	TRPV4	HP:0002650	Scoliosis	12/14	OMIM:131300
59341	TRPV4	HP:0002650	Scoliosis	3/5	OMIM:184252
59341	TRPV4	HP:0002650	Scoliosis	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0002650	Scoliosis	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
59341	TRPV4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
59341	TRPV4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
59341	TRPV4	HP:0008922	Childhood-onset short-trunk short stature	10/10	OMIM:113500
59341	TRPV4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
59341	TRPV4	HP:0001498	Carpal bone hypoplasia	-	OMIM:184252
59341	TRPV4	HP:0001498	Carpal bone hypoplasia	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0000175	Cleft palate	2/7	OMIM:615777
59341	TRPV4	HP:0000175	Cleft palate	HP:0040283	ORPHA:2635
59341	TRPV4	HP:0008997	Proximal muscle weakness in upper limbs	16/42	OMIM:606071
59341	TRPV4	HP:0008959	Distal upper limb muscle weakness	14/42	OMIM:606071
59341	TRPV4	HP:0008964	Nonprogressive muscular atrophy	-	OMIM:600175
59341	TRPV4	HP:0008964	Nonprogressive muscular atrophy	HP:0040281	ORPHA:1216
59341	TRPV4	HP:0008948	Proximal upper limb amyotrophy	16/42	OMIM:606071
59341	TRPV4	HP:0008956	Proximal lower limb amyotrophy	0/20	OMIM:600175
59341	TRPV4	HP:0008955	Progressive distal muscular atrophy	-	OMIM:181405
59341	TRPV4	HP:0008944	Distal lower limb amyotrophy	20/20	OMIM:600175
59341	TRPV4	HP:0008944	Distal lower limb amyotrophy	39/42	OMIM:606071
59341	TRPV4	HP:0002766	Relatively short spine	-	OMIM:156530
59341	TRPV4	HP:0002751	Kyphoscoliosis	-	OMIM:184252
59341	TRPV4	HP:0002751	Kyphoscoliosis	9/22	OMIM:156530
59341	TRPV4	HP:0002751	Kyphoscoliosis	HP:0040281	ORPHA:93304
59341	TRPV4	HP:0002751	Kyphoscoliosis	2/7	OMIM:184095
59341	TRPV4	HP:0002750	Delayed skeletal maturation	0/7	OMIM:606835
59341	TRPV4	HP:0002750	Delayed skeletal maturation	15/19	OMIM:156530
59341	TRPV4	HP:0002750	Delayed skeletal maturation	-	OMIM:184252
59341	TRPV4	HP:0003366	Abnormal femoral neck/head morphology	HP:0040281	ORPHA:86820
59341	TRPV4	HP:0003332	Absent primary metaphyseal spongiosa	-	OMIM:156530
59341	TRPV4	HP:0003336	Abnormal enchondral ossification	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0003336	Abnormal enchondral ossification	20/20	OMIM:156530
59341	TRPV4	HP:0003336	Abnormal enchondral ossification	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0003311	Hypoplasia of the odontoid process	-	OMIM:184252
59341	TRPV4	HP:0003311	Hypoplasia of the odontoid process	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0003311	Hypoplasia of the odontoid process	1/1	OMIM:156530
59341	TRPV4	HP:0003307	Hyperlordosis	-	OMIM:600175
59341	TRPV4	HP:0003307	Hyperlordosis	-	OMIM:181405
59341	TRPV4	HP:0002093	Respiratory insufficiency	-	OMIM:181405
59341	TRPV4	HP:0002093	Respiratory insufficiency	1/2	OMIM:156530
59341	TRPV4	HP:0100559	Lower limb asymmetry	HP:0040282	ORPHA:86820
59341	TRPV4	HP:0003391	Gowers sign	-	OMIM:181405
59341	TRPV4	HP:0003375	Narrow greater sciatic notch	4/6	OMIM:184252
59341	TRPV4	HP:0003375	Narrow greater sciatic notch	2/2	OMIM:156530
59341	TRPV4	HP:0003388	Easy fatigability	36/76	OMIM:131300
59341	TRPV4	HP:0009466	Radial deviation of finger	-	OMIM:606835
59341	TRPV4	HP:0009466	Radial deviation of finger	-	OMIM:113500
59341	TRPV4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
59341	TRPV4	HP:0011727	Peroneal muscle weakness	-	OMIM:181405
59341	TRPV4	HP:0008155	Mucopolysacchariduria	0/2	OMIM:184095
59341	TRPV4	HP:0003477	Peripheral axonal neuropathy	HP:0040283	OMIM:156530
59341	TRPV4	HP:0003467	Atlantoaxial instability	1/7	OMIM:184095
59341	TRPV4	HP:0002136	Broad-based gait	-	OMIM:181405
59341	TRPV4	HP:0003411	Proximal femoral metaphyseal irregularity	-	OMIM:113500
59341	TRPV4	HP:0003417	Coronal cleft vertebrae	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0002176	Spinal cord compression	-	OMIM:113500
59341	TRPV4	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2635
59341	TRPV4	HP:0010579	Cone-shaped epiphysis	2/2	OMIM:156530
59341	TRPV4	HP:0003593	Infantile onset	3/3	OMIM:168400
59341	TRPV4	HP:0003593	Infantile onset	1/6	OMIM:184252
59341	TRPV4	HP:0003577	Congenital onset	20/20	OMIM:600175
59341	TRPV4	HP:0003577	Congenital onset	25/41	OMIM:606071
59341	TRPV4	HP:0003555	Muscle fiber splitting	-	OMIM:181405
59341	TRPV4	HP:0004878	Intercostal muscle weakness	-	OMIM:606071
59341	TRPV4	HP:0003562	Abnormal metaphyseal vascular invasion	-	OMIM:156530
59341	TRPV4	HP:0430046	Small joint hypermobilty	1/7	OMIM:184095
59341	TRPV4	HP:0010628	Facial palsy	-	OMIM:181405
59341	TRPV4	HP:0003510	Severe short stature	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0003510	Severe short stature	-	OMIM:156530
59341	TRPV4	HP:0003510	Severe short stature	7/7	OMIM:615777
59341	TRPV4	HP:0003510	Severe short stature	3/3	OMIM:168400
59341	TRPV4	HP:0003510	Severe short stature	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:184252
59341	TRPV4	HP:0003521	Disproportionate short-trunk short stature	HP:0040281	ORPHA:93314
59341	TRPV4	HP:0003521	Disproportionate short-trunk short stature	6/22	OMIM:156530
59341	TRPV4	HP:0003697	Scapuloperoneal amyotrophy	-	OMIM:181405
59341	TRPV4	HP:0003693	Distal amyotrophy	HP:0040281	ORPHA:1216
59341	TRPV4	HP:0003693	Distal amyotrophy	-	OMIM:600175
59341	TRPV4	HP:0003691	Scapular winging	-	OMIM:181405
59341	TRPV4	HP:0003680	Nonprogressive	-	OMIM:600175
59341	TRPV4	HP:0002315	Headache	-	OMIM:131300
59341	TRPV4	HP:0004976	Knee dislocation	6/7	OMIM:615777
59341	TRPV4	HP:0200021	Down-sloping shoulders	-	OMIM:606071
59341	TRPV4	HP:0100670	Coarse metaphyseal trabecularization	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0009803	Short phalanx of finger	-	OMIM:615777
59341	TRPV4	HP:0200055	Small hand	-	OMIM:181405
59341	TRPV4	HP:0007149	Distal upper limb amyotrophy	14/42	OMIM:606071
59341	TRPV4	HP:0010743	Short metatarsal	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0009763	Limb pain	63/92	OMIM:131300
59341	TRPV4	HP:0008434	Hypoplastic cervical vertebrae	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0008422	Vertebral wedging	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0003623	Neonatal onset	2/2	OMIM:156530
59341	TRPV4	HP:0003634	Amyoplasia	-	OMIM:181405
59341	TRPV4	HP:0003621	Juvenile onset	7/7	OMIM:606835
59341	TRPV4	HP:0003621	Juvenile onset	-	OMIM:131300
59341	TRPV4	HP:0003621	Juvenile onset	2/6	OMIM:184252
59341	TRPV4	HP:0007178	Motor polyneuropathy	-	OMIM:181405
59341	TRPV4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
59341	TRPV4	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:2635
59341	TRPV4	HP:0004268	Osteoarthritis of the small joints of the hand	HP:0040281	ORPHA:85169
59341	TRPV4	HP:0004279	Short palm	7/7	OMIM:184095
59341	TRPV4	HP:0006897	Abducens palsy	-	OMIM:606071
59341	TRPV4	HP:0006897	Abducens palsy	-	OMIM:181405
59341	TRPV4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
59341	TRPV4	HP:6001056	Out-toeing	-	OMIM:131300
59341	TRPV4	HP:0000651	Diplopia	-	OMIM:131300
59341	TRPV4	HP:0001956	Truncal obesity	2/7	OMIM:615777
59341	TRPV4	HP:0001903	Anemia	HP:0040283	OMIM:131300
59341	TRPV4	HP:0010049	Short metacarpal	-	OMIM:615777
59341	TRPV4	HP:0009060	Scapular muscle atrophy	-	OMIM:181405
59341	TRPV4	HP:0009063	Progressive distal muscle weakness	-	OMIM:181405
59341	TRPV4	HP:0009053	Distal lower limb muscle weakness	39/42	OMIM:606071
59341	TRPV4	HP:0009053	Distal lower limb muscle weakness	20/20	OMIM:600175
59341	TRPV4	HP:0009049	Peroneal muscle atrophy	-	OMIM:181405
59341	TRPV4	HP:0009027	Foot dorsiflexor weakness	-	OMIM:606071
59341	TRPV4	HP:0000678	Dental crowding	-	OMIM:615777
59341	TRPV4	HP:0001989	Fetal akinesia sequence	HP:0040283	OMIM:156530
59341	TRPV4	HP:0000670	Carious teeth	-	OMIM:131300
59341	TRPV4	HP:0011304	Broad thumb	2/7	OMIM:615777
59341	TRPV4	HP:0000668	Hypodontia	-	OMIM:615777
59341	TRPV4	HP:0000664	Synophrys	-	OMIM:615777
59341	TRPV4	HP:0004322	Short stature	0/4	OMIM:617383
59341	TRPV4	HP:0004322	Short stature	HP:0040281	ORPHA:93304
59341	TRPV4	HP:0004322	Short stature	7/7	OMIM:184095
59341	TRPV4	HP:0004322	Short stature	HP:0040283	OMIM:606071
59341	TRPV4	HP:0004326	Cachexia	HP:0040281	ORPHA:1216
59341	TRPV4	HP:0003088	Premature osteoarthritis	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0003059	Abnormality of the radioulnar joints	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0004396	Poor appetite	-	OMIM:131300
59341	TRPV4	HP:0003037	Enlarged joints	24/24	OMIM:156530
59341	TRPV4	HP:0003037	Enlarged joints	HP:0040283	OMIM:184252
59341	TRPV4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
59341	TRPV4	HP:0034187	Clavicular pseudarthrosis	1/2	OMIM:156530
59341	TRPV4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
59341	TRPV4	HP:0003040	Arthropathy	7/7	OMIM:606835
59341	TRPV4	HP:0003015	Flared metaphysis	-	OMIM:184252
59341	TRPV4	HP:0003015	Flared metaphysis	22/22	OMIM:156530
59341	TRPV4	HP:0003016	Metaphyseal widening	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
59341	TRPV4	HP:0003026	Short long bone	7/7	OMIM:615777
59341	TRPV4	HP:0003025	Metaphyseal irregularity	7/21	OMIM:156530
59341	TRPV4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
59341	TRPV4	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
59341	TRPV4	HP:0000768	Pectus carinatum	-	OMIM:184252
59341	TRPV4	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
59341	TRPV4	HP:0000768	Pectus carinatum	2/7	OMIM:184095
59341	TRPV4	HP:0000763	Sensory neuropathy	-	OMIM:606071
59341	TRPV4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
59341	TRPV4	HP:0000750	Delayed speech and language development	-	OMIM:615777
59341	TRPV4	HP:0011463	Childhood onset	10/41	OMIM:606071
59341	TRPV4	HP:0011463	Childhood onset	3/6	OMIM:184252
59341	TRPV4	HP:0011462	Young adult onset	4/4	OMIM:617383
59341	TRPV4	HP:0011462	Young adult onset	6/41	OMIM:606071
59341	TRPV4	HP:0011461	Fetal onset	7/7	OMIM:615777
59341	TRPV4	HP:0009130	Hand muscle atrophy	-	OMIM:606071
59341	TRPV4	HP:0000774	Narrow chest	20/22	OMIM:156530
59341	TRPV4	HP:0000774	Narrow chest	2/7	OMIM:615777
59341	TRPV4	HP:0000774	Narrow chest	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0000773	Short ribs	21/22	OMIM:156530
59341	TRPV4	HP:0009113	Diaphragmatic weakness	-	OMIM:606071
59341	TRPV4	HP:0009113	Diaphragmatic weakness	-	OMIM:181405
59341	TRPV4	HP:0003121	Limb joint contracture	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0003103	Abnormal cortical bone morphology	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0005743	Avascular necrosis of the capital femoral epiphysis	4/4	OMIM:617383
59341	TRPV4	HP:0000914	Shield chest	1/7	OMIM:184095
59341	TRPV4	HP:0000914	Shield chest	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0000925	Abnormality of the vertebral column	HP:0040281	ORPHA:93314
59341	TRPV4	HP:0000926	Platyspondyly	10/10	OMIM:113500
59341	TRPV4	HP:0000926	Platyspondyly	5/5	OMIM:184252
59341	TRPV4	HP:0000926	Platyspondyly	HP:0040281	ORPHA:93314
59341	TRPV4	HP:0000926	Platyspondyly	24/24	OMIM:156530
59341	TRPV4	HP:0000926	Platyspondyly	0/4	OMIM:617383
59341	TRPV4	HP:0000926	Platyspondyly	HP:0040281	ORPHA:93304
59341	TRPV4	HP:0000926	Platyspondyly	1/7	OMIM:615777
59341	TRPV4	HP:0000926	Platyspondyly	7/7	OMIM:184095
59341	TRPV4	HP:0003177	Squared iliac bones	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0003170	Abnormal acetabulum morphology	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0003185	Short greater sciatic notch	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0003180	Flat acetabular roof	4/6	OMIM:184252
59341	TRPV4	HP:0003180	Flat acetabular roof	-	OMIM:615777
59341	TRPV4	HP:0003180	Flat acetabular roof	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0003180	Flat acetabular roof	1/2	OMIM:156530
59341	TRPV4	HP:0000904	Flaring of rib cage	2/2	OMIM:156530
59341	TRPV4	HP:0004482	Relative macrocephaly	-	OMIM:615777
59341	TRPV4	HP:0005793	Shortening of all distal phalanges of the toes	HP:0040281	ORPHA:85169
59341	TRPV4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
59341	TRPV4	HP:0000887	Cupped ribs	21/22	OMIM:156530
59341	TRPV4	HP:0000823	Delayed puberty	-	OMIM:131300
59341	TRPV4	HP:0010228	Absent epiphyses of the phalanges of the hand	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	0/6	OMIM:184252
59341	TRPV4	HP:0000894	Short clavicles	-	OMIM:615777
59341	TRPV4	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:600175
59341	TRPV4	HP:0004558	Cervical platyspondyly	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0004570	Increased vertebral height	HP:0040281	ORPHA:93304
59341	TRPV4	HP:0005872	Brachytelomesophalangy	7/7	OMIM:606835
59341	TRPV4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
59341	TRPV4	HP:0003273	Hip contracture	-	OMIM:600175
59341	TRPV4	HP:0030838	Hip pain	HP:0040282	ORPHA:86820
59341	TRPV4	HP:0010307	Stridor	-	OMIM:606071
59341	TRPV4	HP:0010307	Stridor	-	OMIM:181405
59341	TRPV4	HP:0010306	Short thorax	HP:0040281	ORPHA:93304
59341	TRPV4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
59341	TRPV4	HP:0000944	Abnormal metaphysis morphology	HP:0040283	ORPHA:93304
59341	TRPV4	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0005819	Short middle phalanx of finger	-	OMIM:606835
59341	TRPV4	HP:0005819	Short middle phalanx of finger	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0005819	Short middle phalanx of finger	HP:0040281	ORPHA:85169
59341	TRPV4	HP:0040160	Generalized osteoporosis	7/7	OMIM:184095
59341	TRPV4	HP:0009381	Short finger	-	OMIM:156530
59341	TRPV4	HP:0000286	Epicanthus	1/7	OMIM:615777
59341	TRPV4	HP:0000280	Coarse facial features	2/7	OMIM:615777
59341	TRPV4	HP:0012246	Oculomotor nerve palsy	-	OMIM:606071
59341	TRPV4	HP:0005108	Abnormal intervertebral disk morphology	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0007759	Opacification of the corneal stroma	0/2	OMIM:184095
59341	TRPV4	HP:0002812	Coxa vara	-	OMIM:184252
59341	TRPV4	HP:0002812	Coxa vara	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0002810	Dumbbell-shaped metaphyses	2/2	OMIM:156530
59341	TRPV4	HP:0002827	Hip dislocation	3/7	OMIM:615777
59341	TRPV4	HP:0002825	Caudal appendage	12/22	OMIM:156530
59341	TRPV4	HP:0002826	Halberd-shaped pelvis	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0002826	Halberd-shaped pelvis	1/2	OMIM:156530
59341	TRPV4	HP:0002826	Halberd-shaped pelvis	4/6	OMIM:184252
59341	TRPV4	HP:0002822	Hyperplasia of the femoral trochanters	-	OMIM:156530
59341	TRPV4	HP:0030084	Clinodactyly	-	OMIM:113500
59341	TRPV4	HP:0030084	Clinodactyly	-	OMIM:181405
59341	TRPV4	HP:0002808	Kyphosis	-	OMIM:113500
59341	TRPV4	HP:0002808	Kyphosis	-	OMIM:600175
59341	TRPV4	HP:0002808	Kyphosis	-	OMIM:181405
59341	TRPV4	HP:0002808	Kyphosis	6/22	OMIM:156530
59341	TRPV4	HP:0002808	Kyphosis	3/3	OMIM:168400
59341	TRPV4	HP:0002808	Kyphosis	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0002808	Kyphosis	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	OMIM:156530
59341	TRPV4	HP:0002804	Arthrogryposis multiplex congenita	15/20	OMIM:600175
59341	TRPV4	HP:0006380	Knee flexion contracture	-	OMIM:600175
59341	TRPV4	HP:0006375	Dumbbell-shaped femur	22/22	OMIM:156530
59341	TRPV4	HP:0006375	Dumbbell-shaped femur	0/6	OMIM:184252
59341	TRPV4	HP:0005042	Irregular, rachitic-like metaphyses	-	OMIM:184252
59341	TRPV4	HP:0005041	Irregular capital femoral epiphysis	5/6	OMIM:184252
59341	TRPV4	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2635
59341	TRPV4	HP:0000252	Microcephaly	-	OMIM:615777
59341	TRPV4	HP:0001552	Barrel-shaped chest	-	OMIM:113500
59341	TRPV4	HP:0001547	Abnormal rib cage morphology	-	OMIM:184252
59341	TRPV4	HP:0002878	Respiratory failure	-	OMIM:606071
59341	TRPV4	HP:0002878	Respiratory failure	-	OMIM:156530
59341	TRPV4	HP:0002879	Anisospondyly	-	OMIM:156530
59341	TRPV4	HP:0001558	Decreased fetal movement	-	OMIM:600175
59341	TRPV4	HP:0001558	Decreased fetal movement	HP:0040283	OMIM:156530
59341	TRPV4	HP:0002857	Genu valgum	-	OMIM:131300
59341	TRPV4	HP:0002857	Genu valgum	13/22	OMIM:156530
59341	TRPV4	HP:0002857	Genu valgum	3/3	OMIM:168400
59341	TRPV4	HP:0002857	Genu valgum	7/7	OMIM:184095
59341	TRPV4	HP:0002870	Obstructive sleep apnea	-	OMIM:606071
59341	TRPV4	HP:0002869	Flared iliac wing	5/6	OMIM:184252
59341	TRPV4	HP:0002869	Flared iliac wing	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0002869	Flared iliac wing	23/24	OMIM:156530
59341	TRPV4	HP:0002867	Abnormal ilium morphology	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0001533	Slender build	-	OMIM:131300
59341	TRPV4	HP:0002834	Flared femoral metaphysis	-	OMIM:156530
59341	TRPV4	HP:0002831	Long coccyx	-	OMIM:156530
59341	TRPV4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
59341	TRPV4	HP:0001510	Growth delay	HP:0040281	ORPHA:93314
59341	TRPV4	HP:0007807	Optic nerve compression	-	OMIM:131300
59341	TRPV4	HP:0031520	Groin pain	HP:0040281	ORPHA:86820
59341	TRPV4	HP:0012368	Flat face	7/7	OMIM:615777
59341	TRPV4	HP:0001609	Hoarse voice	-	OMIM:181405
59341	TRPV4	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
59341	TRPV4	HP:0002936	Distal sensory impairment	7/42	OMIM:606071
59341	TRPV4	HP:0002936	Distal sensory impairment	HP:0040283	OMIM:181405
59341	TRPV4	HP:0001604	Vocal cord paresis	11/42	OMIM:606071
59341	TRPV4	HP:0002942	Thoracic kyphosis	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0006487	Bowing of the long bones	3/3	OMIM:168400
59341	TRPV4	HP:0000365	Hearing impairment	10/67	OMIM:131300
59341	TRPV4	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:2635
59341	TRPV4	HP:0000343	Long philtrum	1/7	OMIM:615777
59341	TRPV4	HP:0011001	Increased bone mineral density	-	OMIM:131300
59341	TRPV4	HP:0000348	High forehead	2/6	OMIM:184252
59341	TRPV4	HP:0000348	High forehead	2/2	OMIM:156530
59341	TRPV4	HP:0000348	High forehead	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0002983	Micromelia	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0000311	Round face	2/7	OMIM:615777
59341	TRPV4	HP:0002986	Radial bowing	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0002987	Elbow flexion contracture	-	OMIM:600175
59341	TRPV4	HP:0002987	Elbow flexion contracture	1/6	OMIM:184252
59341	TRPV4	HP:0002970	Genu varum	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0002970	Genu varum	-	OMIM:615777
59341	TRPV4	HP:0000303	Mandibular prognathia	-	OMIM:131300
59341	TRPV4	HP:0030320	Increased intervertebral space	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0000407	Sensorineural hearing impairment	-	OMIM:606071
59341	TRPV4	HP:0005280	Depressed nasal bridge	1/2	OMIM:156530
59341	TRPV4	HP:0005280	Depressed nasal bridge	2/6	OMIM:184252
59341	TRPV4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
59341	TRPV4	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:2635
59341	TRPV4	HP:0000473	Torticollis	-	OMIM:181405
59341	TRPV4	HP:0000470	Short neck	-	OMIM:113500
59341	TRPV4	HP:0000470	Short neck	3/3	OMIM:168400
59341	TRPV4	HP:0000470	Short neck	3/4	OMIM:184095
59341	TRPV4	HP:0000470	Short neck	-	OMIM:184252
59341	TRPV4	HP:0000470	Short neck	1/7	OMIM:615777
59341	TRPV4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
59341	TRPV4	HP:0001763	Pes planus	-	OMIM:600175
59341	TRPV4	HP:0001763	Pes planus	1/7	OMIM:615777
59341	TRPV4	HP:0001763	Pes planus	2/7	OMIM:184095
59341	TRPV4	HP:0001765	Hammertoe	-	OMIM:606071
59341	TRPV4	HP:0001760	Abnormal foot morphology	-	OMIM:184252
59341	TRPV4	HP:0001762	Talipes equinovarus	-	OMIM:600175
59341	TRPV4	HP:0001762	Talipes equinovarus	-	OMIM:181405
59341	TRPV4	HP:0001761	Pes cavus	-	OMIM:606071
59341	TRPV4	HP:0030289	Flattened femoral epiphysis	HP:0040283	ORPHA:93314
59341	TRPV4	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040283	ORPHA:2635
59341	TRPV4	HP:0000518	Cataract	HP:0040283	ORPHA:2635
59341	TRPV4	HP:0001840	Metatarsus adductus	-	OMIM:615777
59341	TRPV4	HP:0001840	Metatarsus adductus	-	OMIM:181405
59341	TRPV4	HP:0001857	Short distal phalanx of toe	-	OMIM:606835
59341	TRPV4	HP:0000520	Proptosis	2/4	OMIM:131300
59341	TRPV4	HP:0000520	Proptosis	7/7	OMIM:615777
59341	TRPV4	HP:0001831	Short toe	HP:0040282	ORPHA:93314
59341	TRPV4	HP:0000592	Blue sclerae	2/7	OMIM:615777
59341	TRPV4	HP:0000540	Hypermetropia	-	OMIM:113500
59341	TRPV4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
59341	TRPV4	HP:0012514	Lower limb pain	4/4	OMIM:131300
59344	ALOXE3	HP:0025114	Hypergranulosis	-	OMIM:242100
59344	ALOXE3	HP:0100806	Sepsis	HP:0040283	ORPHA:313
59344	ALOXE3	HP:0007431	Congenital ichthyosiform erythroderma	-	OMIM:242100
59344	ALOXE3	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:313
59344	ALOXE3	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:313
59344	ALOXE3	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:281122
59344	ALOXE3	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	2/2	OMIM:242100
59344	ALOXE3	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	8/8	OMIM:606545
59344	ALOXE3	HP:0000007	Autosomal recessive inheritance	-	OMIM:242100
59344	ALOXE3	HP:0000007	Autosomal recessive inheritance	-	OMIM:606545
59344	ALOXE3	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:313
59344	ALOXE3	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:313
59344	ALOXE3	HP:0002046	Heat intolerance	1/3	OMIM:606545
59344	ALOXE3	HP:0003470	Paralysis	-	OMIM:242100
59344	ALOXE3	HP:0033252	Palmar hyperlinearity	2/2	OMIM:242100
59344	ALOXE3	HP:0033252	Palmar hyperlinearity	1/3	OMIM:606545
59344	ALOXE3	HP:0003577	Congenital onset	8/8	OMIM:606545
59344	ALOXE3	HP:0003577	Congenital onset	10/10	OMIM:242100
59344	ALOXE3	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:313
59344	ALOXE3	HP:0100758	Gangrene	HP:0040283	ORPHA:313
59344	ALOXE3	HP:0001019	Erythroderma	HP:0040281	ORPHA:79394
59344	ALOXE3	HP:0001019	Erythroderma	HP:0040281	ORPHA:313
59344	ALOXE3	HP:0200020	Corneal erosion	HP:0040282	ORPHA:79394
59344	ALOXE3	HP:0025092	Epidermal acanthosis	-	OMIM:242100
59344	ALOXE3	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:313
59344	ALOXE3	HP:0010783	Erythema	HP:0040283	OMIM:242100
59344	ALOXE3	HP:0010783	Erythema	HP:0040283	OMIM:606545
59344	ALOXE3	HP:0006889	Intellectual disability, borderline	1/8	OMIM:242100
59344	ALOXE3	HP:0001944	Dehydration	HP:0040283	ORPHA:313
59344	ALOXE3	HP:0000656	Ectropion	7/8	OMIM:242100
59344	ALOXE3	HP:0000656	Ectropion	2/11	OMIM:606545
59344	ALOXE3	HP:0000656	Ectropion	HP:0040281	ORPHA:79394
59344	ALOXE3	HP:0000656	Ectropion	HP:0040281	ORPHA:313
59344	ALOXE3	HP:0004322	Short stature	HP:0040283	ORPHA:313
59344	ALOXE3	HP:0004322	Short stature	HP:0040283	ORPHA:79394
59344	ALOXE3	HP:0003241	External genital hypoplasia	-	OMIM:242100
59344	ALOXE3	HP:0000989	Pruritus	HP:0040281	ORPHA:313
59344	ALOXE3	HP:0000989	Pruritus	HP:0040281	ORPHA:79394
59344	ALOXE3	HP:0000982	Palmoplantar keratoderma	6/8	OMIM:242100
59344	ALOXE3	HP:0000982	Palmoplantar keratoderma	2/8	OMIM:606545
59344	ALOXE3	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:79394
59344	ALOXE3	HP:0000958	Dry skin	HP:0040281	ORPHA:313
59344	ALOXE3	HP:0000970	Anhidrosis	8/8	OMIM:242100
59344	ALOXE3	HP:0000970	Anhidrosis	3/3	OMIM:606545
59344	ALOXE3	HP:0000966	Hypohidrosis	HP:0040281	OMIM:242100
59344	ALOXE3	HP:0000966	Hypohidrosis	-	OMIM:606545
59344	ALOXE3	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:79394
59344	ALOXE3	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:313
59344	ALOXE3	HP:0000962	Hyperkeratosis	-	OMIM:242100
59344	ALOXE3	HP:0000962	Hyperkeratosis	-	OMIM:606545
59344	ALOXE3	HP:0008070	Sparse hair	HP:0040281	ORPHA:313
59344	ALOXE3	HP:0008064	Ichthyosis	HP:0040281	ORPHA:281122
59344	ALOXE3	HP:0008064	Ichthyosis	HP:0040281	ORPHA:313
59344	ALOXE3	HP:0008064	Ichthyosis	3/3	OMIM:606545
59344	ALOXE3	HP:0008064	Ichthyosis	HP:0040281	ORPHA:79394
59344	ALOXE3	HP:0009381	Short finger	HP:0040283	OMIM:242100
59344	ALOXE3	HP:0001595	Abnormal hair morphology	-	OMIM:242100
59344	ALOXE3	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:79394
59344	ALOXE3	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:313
59344	ALOXE3	HP:0001596	Alopecia	HP:0040283	OMIM:242100
59344	ALOXE3	HP:0001596	Alopecia	HP:0040282	ORPHA:79394
59344	ALOXE3	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:313
59344	ALOXE3	HP:0000232	Everted lower lip vermilion	1/2	OMIM:242100
59344	ALOXE3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79394
59344	ALOXE3	HP:0001510	Growth delay	-	OMIM:242100
59344	ALOXE3	HP:0011039	Abnormal helix morphology	HP:0040282	ORPHA:313
59344	ALOXE3	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:313
59344	ALOXE3	HP:0000365	Hearing impairment	HP:0040282	ORPHA:79394
59344	ALOXE3	HP:0012472	Eclabion	1/8	OMIM:606545
59344	ALOXE3	HP:0000491	Keratitis	HP:0040282	ORPHA:79394
59344	ALOXE3	HP:0001792	Small nail	HP:0040283	OMIM:242100
59344	ALOXE3	HP:0001831	Short toe	HP:0040283	OMIM:242100
59344	ALOXE3	HP:0001816	Thin nail	HP:0040283	OMIM:242100
59345	GNB4	HP:0002495	Impaired vibratory sensation	5/7	OMIM:615185
59345	GNB4	HP:0007328	Impaired pain sensation	5/7	OMIM:615185
59345	GNB4	HP:0001265	Hyporeflexia	-	OMIM:615185
59345	GNB4	HP:0000006	Autosomal dominant inheritance	-	OMIM:615185
59345	GNB4	HP:0008959	Distal upper limb muscle weakness	1/7	OMIM:615185
59345	GNB4	HP:0008944	Distal lower limb amyotrophy	7/7	OMIM:615185
59345	GNB4	HP:0003376	Steppage gait	4/7	OMIM:615185
59345	GNB4	HP:0003383	Onion bulb formation	2/2	OMIM:615185
59345	GNB4	HP:0003450	Axonal regeneration	-	OMIM:615185
59345	GNB4	HP:0003438	Absent Achilles reflex	6/7	OMIM:615185
59345	GNB4	HP:0003596	Middle age onset	1/7	OMIM:615185
59345	GNB4	HP:0003677	Slowly progressive	-	OMIM:615185
59345	GNB4	HP:0007149	Distal upper limb amyotrophy	2/7	OMIM:615185
59345	GNB4	HP:0003621	Juvenile onset	4/7	OMIM:615185
59345	GNB4	HP:0006844	Absent patellar reflexes	6/7	OMIM:615185
59345	GNB4	HP:0009053	Distal lower limb muscle weakness	7/7	OMIM:615185
59345	GNB4	HP:0011462	Young adult onset	2/7	OMIM:615185
59345	GNB4	HP:0011096	Peripheral demyelination	2/2	OMIM:615185
59345	GNB4	HP:0002936	Distal sensory impairment	-	OMIM:615185
59345	GNB4	HP:0001765	Hammertoe	1/1	OMIM:615185
59345	GNB4	HP:0001761	Pes cavus	-	OMIM:615185
60386	SLC25A19	HP:0002490	Increased CSF lactate	3/3	OMIM:613710
60386	SLC25A19	HP:0002460	Distal muscle weakness	4/4	OMIM:613710
60386	SLC25A19	HP:0002414	Spina bifida	HP:0040282	ORPHA:99742
60386	SLC25A19	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:99742
60386	SLC25A19	HP:0001288	Gait disturbance	4/4	OMIM:613710
60386	SLC25A19	HP:0001254	Lethargy	-	OMIM:613710
60386	SLC25A19	HP:0001252	Hypotonia	HP:0040282	ORPHA:99742
60386	SLC25A19	HP:0001265	Hyporeflexia	-	OMIM:613710
60386	SLC25A19	HP:0002509	Limb hypertonia	1/1	OMIM:607196
60386	SLC25A19	HP:0002509	Limb hypertonia	HP:0040282	ORPHA:99742
60386	SLC25A19	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:99742
60386	SLC25A19	HP:0001371	Flexion contracture	-	OMIM:607196
60386	SLC25A19	HP:0001324	Muscle weakness	-	OMIM:613710
60386	SLC25A19	HP:0001339	Lissencephaly	HP:0040282	ORPHA:99742
60386	SLC25A19	HP:0001338	Partial agenesis of the corpus callosum	1/1	OMIM:607196
60386	SLC25A19	HP:0000007	Autosomal recessive inheritance	-	OMIM:607196
60386	SLC25A19	HP:0000007	Autosomal recessive inheritance	-	OMIM:613710
60386	SLC25A19	HP:0001336	Myoclonus	1/1	OMIM:607196
60386	SLC25A19	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:99742
60386	SLC25A19	HP:0001320	Cerebellar vermis hypoplasia	1/1	OMIM:607196
60386	SLC25A19	HP:0001321	Cerebellar hypoplasia	-	OMIM:607196
60386	SLC25A19	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:99742
60386	SLC25A19	HP:0008936	Axial hypotonia	1/1	OMIM:607196
60386	SLC25A19	HP:0002033	Poor suck	1/1	OMIM:607196
60386	SLC25A19	HP:0005968	Temperature instability	HP:0040282	ORPHA:99742
60386	SLC25A19	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:99742
60386	SLC25A19	HP:0003477	Peripheral axonal neuropathy	-	OMIM:613710
60386	SLC25A19	HP:0003470	Paralysis	-	OMIM:613710
60386	SLC25A19	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:99742
60386	SLC25A19	HP:0003577	Congenital onset	-	OMIM:607196
60386	SLC25A19	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:99742
60386	SLC25A19	HP:0002240	Hepatomegaly	-	OMIM:607196
60386	SLC25A19	HP:0100704	Cerebral visual impairment	1/1	OMIM:607196
60386	SLC25A19	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:99742
60386	SLC25A19	HP:0003621	Juvenile onset	2/4	OMIM:613710
60386	SLC25A19	HP:0000648	Optic atrophy	HP:0040281	ORPHA:99742
60386	SLC25A19	HP:0000648	Optic atrophy	1/1	OMIM:607196
60386	SLC25A19	HP:0001942	Metabolic acidosis	HP:0040281	ORPHA:99742
60386	SLC25A19	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:99742
60386	SLC25A19	HP:0001992	Organic aciduria	HP:0040281	ORPHA:99742
60386	SLC25A19	HP:0004331	Decreased skull ossification	HP:0040283	ORPHA:99742
60386	SLC25A19	HP:0034198	Second trimester onset	1/1	OMIM:607196
60386	SLC25A19	HP:0000737	Irritability	HP:0040281	ORPHA:99742
60386	SLC25A19	HP:0000737	Irritability	1/1	OMIM:607196
60386	SLC25A19	HP:0011463	Childhood onset	2/4	OMIM:613710
60386	SLC25A19	HP:0011451	Primary microcephaly	11/11	OMIM:607196
60386	SLC25A19	HP:0005750	Lower-limb joint contracture	2/4	OMIM:613710
60386	SLC25A19	HP:0003128	Lactic acidosis	1/1	OMIM:607196
60386	SLC25A19	HP:0003202	Skeletal muscle atrophy	2/4	OMIM:613710
60386	SLC25A19	HP:0000939	Osteoporosis	HP:0040282	ORPHA:99742
60386	SLC25A19	HP:0007750	Hypoplasia of the fovea	1/1	OMIM:607196
60386	SLC25A19	HP:0000237	Small anterior fontanelle	1/1	OMIM:607196
60386	SLC25A19	HP:0000252	Microcephaly	HP:0040281	ORPHA:99742
60386	SLC25A19	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:99742
60386	SLC25A19	HP:0001522	Death in infancy	HP:0040281	ORPHA:99742
60386	SLC25A19	HP:0001508	Failure to thrive	1/1	OMIM:607196
60386	SLC25A19	HP:0002936	Distal sensory impairment	1/4	OMIM:613710
60386	SLC25A19	HP:0000340	Sloping forehead	HP:0040281	ORPHA:99742
60386	SLC25A19	HP:0000340	Sloping forehead	1/1	OMIM:607196
60386	SLC25A19	HP:0000347	Micrognathia	-	OMIM:607196
60386	SLC25A19	HP:0000347	Micrognathia	HP:0040281	ORPHA:99742
60386	SLC25A19	HP:0001762	Talipes equinovarus	-	OMIM:613710
60401	EDA2R	HP:0009882	Short distal phalanx of finger	HP:0040283	ORPHA:181
60401	EDA2R	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:181
60401	EDA2R	HP:0002007	Frontal bossing	HP:0040282	ORPHA:181
60401	EDA2R	HP:0002231	Sparse body hair	HP:0040281	ORPHA:181
60401	EDA2R	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:181
60401	EDA2R	HP:0010803	Everted upper lip vermilion	HP:0040281	ORPHA:181
60401	EDA2R	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:181
60401	EDA2R	HP:0000691	Microdontia	HP:0040281	ORPHA:181
60401	EDA2R	HP:0000830	Anterior hypopituitarism	HP:0040283	ORPHA:181
60401	EDA2R	HP:0000822	Hypertension	HP:0040283	ORPHA:181
60401	EDA2R	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:181
60401	EDA2R	HP:0008070	Sparse hair	HP:0040281	ORPHA:181
60401	EDA2R	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:181
60401	EDA2R	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:181
60468	BACH2	HP:0032229	Perinuclear antineutrophil antibody positivity	1/3	OMIM:618394
60468	BACH2	HP:0002583	Colitis	-	OMIM:618394
60468	BACH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618394
60468	BACH2	HP:0002720	Decreased circulating IgA concentration	3/3	OMIM:618394
60468	BACH2	HP:0002028	Chronic diarrhea	3/3	OMIM:618394
60468	BACH2	HP:0002113	Pulmonary infiltrates	-	OMIM:618394
60468	BACH2	HP:0002110	Bronchiectasis	2/3	OMIM:618394
60468	BACH2	HP:0002206	Pulmonary fibrosis	-	OMIM:618394
60468	BACH2	HP:0031808	Decreased total basophil count	3/3	OMIM:618394
60468	BACH2	HP:0001945	Fever	-	OMIM:618394
60468	BACH2	HP:0004315	Decreased circulating IgG concentration	2/3	OMIM:618394
60468	BACH2	HP:0100280	Crohn's disease	1/3	OMIM:618394
60468	BACH2	HP:0100279	Ulcerative colitis	1/3	OMIM:618394
60468	BACH2	HP:0002850	Decreased circulating total IgM	2/3	OMIM:618394
60468	BACH2	HP:0001744	Splenomegaly	-	OMIM:618394
60468	BACH2	HP:0005425	Recurrent sinopulmonary infections	3/3	OMIM:618394
60468	BACH2	HP:0005479	Decreased circulating IgE concentration	2/3	OMIM:618394
60468	BACH2	HP:0030374	Decreased proportion of memory B cells	3/3	OMIM:618394
60468	BACH2	HP:0001876	Pancytopenia	-	OMIM:618394
60481	ELOVL5	HP:0002460	Distal muscle weakness	2/9	OMIM:615957
60481	ELOVL5	HP:0002460	Distal muscle weakness	HP:0040283	ORPHA:423296
60481	ELOVL5	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:423296
60481	ELOVL5	HP:0001288	Gait disturbance	HP:0040281	ORPHA:423296
60481	ELOVL5	HP:0001251	Ataxia	9/9	OMIM:615957
60481	ELOVL5	HP:0001260	Dysarthria	HP:0040281	ORPHA:423296
60481	ELOVL5	HP:0001260	Dysarthria	6/9	OMIM:615957
60481	ELOVL5	HP:0007366	Atrophy/Degeneration affecting the brainstem	0/7	OMIM:615957
60481	ELOVL5	HP:0001337	Tremor	HP:0040284	ORPHA:423296
60481	ELOVL5	HP:0001337	Tremor	1/9	OMIM:615957
60481	ELOVL5	HP:0000006	Autosomal dominant inheritance	-	OMIM:615957
60481	ELOVL5	HP:0001336	Myoclonus	0/9	OMIM:615957
60481	ELOVL5	HP:0002066	Gait ataxia	9/9	OMIM:615957
60481	ELOVL5	HP:0002066	Gait ataxia	HP:0040281	ORPHA:423296
60481	ELOVL5	HP:0002070	Limb ataxia	9/9	OMIM:615957
60481	ELOVL5	HP:0003477	Peripheral axonal neuropathy	5/8	OMIM:615957
60481	ELOVL5	HP:0003474	Somatic sensory dysfunction	HP:0040282	ORPHA:423296
60481	ELOVL5	HP:0003596	Middle age onset	4/9	OMIM:615957
60481	ELOVL5	HP:0003677	Slowly progressive	-	OMIM:615957
60481	ELOVL5	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:423296
60481	ELOVL5	HP:0006855	Cerebellar vermis atrophy	7/7	OMIM:615957
60481	ELOVL5	HP:0000639	Nystagmus	HP:0040281	ORPHA:423296
60481	ELOVL5	HP:0000639	Nystagmus	8/9	OMIM:615957
60481	ELOVL5	HP:0000708	Atypical behavior	HP:0040284	ORPHA:423296
60481	ELOVL5	HP:0011462	Young adult onset	5/9	OMIM:615957
60481	ELOVL5	HP:0000514	Slow saccadic eye movements	5/9	OMIM:615957
60481	ELOVL5	HP:0000514	Slow saccadic eye movements	HP:0040282	ORPHA:423296
60482	SLC5A7	HP:0002460	Distal muscle weakness	-	OMIM:158580
60482	SLC5A7	HP:0002421	Poor head control	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0003701	Proximal muscle weakness	1/5	OMIM:617143
60482	SLC5A7	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:98914
60482	SLC5A7	HP:0001270	Motor delay	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0001270	Motor delay	5/5	OMIM:617143
60482	SLC5A7	HP:0001288	Gait disturbance	-	OMIM:158580
60482	SLC5A7	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0001283	Bulbar palsy	-	OMIM:617143
60482	SLC5A7	HP:0001283	Bulbar palsy	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0001284	Areflexia	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0001250	Seizure	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0001252	Hypotonia	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0001252	Hypotonia	2/5	OMIM:617143
60482	SLC5A7	HP:0001251	Ataxia	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0001249	Intellectual disability	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0001249	Intellectual disability	3/5	OMIM:617143
60482	SLC5A7	HP:0001265	Hyporeflexia	-	OMIM:158580
60482	SLC5A7	HP:0001265	Hyporeflexia	HP:0040284	ORPHA:98914
60482	SLC5A7	HP:0002515	Waddling gait	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0001374	Congenital hip dislocation	HP:0040284	ORPHA:98914
60482	SLC5A7	HP:0001382	Joint hypermobility	HP:0040284	ORPHA:98914
60482	SLC5A7	HP:0001324	Muscle weakness	3/5	OMIM:617143
60482	SLC5A7	HP:0000007	Autosomal recessive inheritance	-	OMIM:617143
60482	SLC5A7	HP:0001337	Tremor	HP:0040283	OMIM:158580
60482	SLC5A7	HP:0000006	Autosomal dominant inheritance	-	OMIM:158580
60482	SLC5A7	HP:0002650	Scoliosis	1/5	OMIM:617143
60482	SLC5A7	HP:0002791	Hypoventilation	2/4	OMIM:617143
60482	SLC5A7	HP:0025401	Staring gaze	HP:0040284	ORPHA:98914
60482	SLC5A7	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0002020	Gastroesophageal reflux	HP:0040284	ORPHA:98914
60482	SLC5A7	HP:0002033	Poor suck	2/5	OMIM:617143
60482	SLC5A7	HP:0002033	Poor suck	HP:0040281	ORPHA:98914
60482	SLC5A7	HP:0004661	Frontalis muscle weakness	HP:0040281	ORPHA:98914
60482	SLC5A7	HP:0003325	Limb-girdle muscle weakness	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0002015	Dysphagia	4/5	OMIM:617143
60482	SLC5A7	HP:0002015	Dysphagia	HP:0040281	ORPHA:98914
60482	SLC5A7	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0005943	Respiratory arrest	HP:0040284	ORPHA:98914
60482	SLC5A7	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0003473	Fatigable weakness	3/5	OMIM:617143
60482	SLC5A7	HP:0003473	Fatigable weakness	HP:0040281	ORPHA:98914
60482	SLC5A7	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0002104	Apnea	4/5	OMIM:617143
60482	SLC5A7	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0/2	OMIM:158580
60482	SLC5A7	HP:0010536	Central sleep apnea	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0003593	Infantile onset	1/5	OMIM:617143
60482	SLC5A7	HP:0003577	Congenital onset	4/5	OMIM:617143
60482	SLC5A7	HP:0004885	Episodic respiratory distress	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0040281	ORPHA:98914
60482	SLC5A7	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:98914
60482	SLC5A7	HP:0011968	Feeding difficulties	-	OMIM:617143
60482	SLC5A7	HP:0010628	Facial palsy	5/5	OMIM:617143
60482	SLC5A7	HP:0002392	EEG with polyspike wave complexes	HP:0040284	ORPHA:98914
60482	SLC5A7	HP:0003693	Distal amyotrophy	-	OMIM:158580
60482	SLC5A7	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0003677	Slowly progressive	-	OMIM:158580
60482	SLC5A7	HP:0009830	Peripheral neuropathy	-	OMIM:158580
60482	SLC5A7	HP:0008443	Neuropathic spinal arthropathy	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0003621	Juvenile onset	-	OMIM:158580
60482	SLC5A7	HP:0007178	Motor polyneuropathy	HP:0040284	ORPHA:98914
60482	SLC5A7	HP:0000639	Nystagmus	HP:0040284	ORPHA:98914
60482	SLC5A7	HP:0000651	Diplopia	HP:0040284	ORPHA:98914
60482	SLC5A7	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0031936	Delayed ability to walk	5/5	OMIM:617143
60482	SLC5A7	HP:0000768	Pectus carinatum	HP:0040284	ORPHA:98914
60482	SLC5A7	HP:0011469	Nasal regurgitation	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0012801	Narrow jaw	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0003202	Skeletal muscle atrophy	1/5	OMIM:617143
60482	SLC5A7	HP:0030842	Choking episodes	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0010307	Stridor	1/5	OMIM:617143
60482	SLC5A7	HP:0010307	Stridor	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0100285	EMG: impaired neuromuscular transmission	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0000961	Cyanosis	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0040131	Abnormal motor nerve conduction velocity	0/14	OMIM:158580
60482	SLC5A7	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0000276	Long face	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0002808	Kyphosis	1/5	OMIM:617143
60482	SLC5A7	HP:0002804	Arthrogryposis multiplex congenita	2/5	OMIM:617143
60482	SLC5A7	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0002882	Sudden episodic apnea	HP:0040281	ORPHA:98914
60482	SLC5A7	HP:0000218	High palate	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:98914
60482	SLC5A7	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0002870	Obstructive sleep apnea	HP:0040284	ORPHA:98914
60482	SLC5A7	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0030205	Increased jitter at single fiber EMG	2/2	OMIM:158580
60482	SLC5A7	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	-	ORPHA:98914
60482	SLC5A7	HP:0001605	Vocal cord paralysis	-	OMIM:158580
60482	SLC5A7	HP:0001604	Vocal cord paresis	-	OMIM:158580
60482	SLC5A7	HP:0001618	Dysphonia	1/5	OMIM:617143
60482	SLC5A7	HP:0001618	Dysphonia	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0001612	Weak cry	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:98914
60482	SLC5A7	HP:0000369	Low-set ears	HP:0040284	ORPHA:98914
60482	SLC5A7	HP:0000308	Microretrognathia	HP:0040284	ORPHA:98914
60482	SLC5A7	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:98914
60482	SLC5A7	HP:0000467	Neck muscle weakness	1/5	OMIM:617143
60482	SLC5A7	HP:0000467	Neck muscle weakness	HP:0040281	ORPHA:98914
60482	SLC5A7	HP:0001763	Pes planus	1/5	OMIM:617143
60482	SLC5A7	HP:0001761	Pes cavus	-	OMIM:158580
60482	SLC5A7	HP:0001761	Pes cavus	HP:0040283	ORPHA:98914
60482	SLC5A7	HP:0000508	Ptosis	HP:0040281	ORPHA:98914
60482	SLC5A7	HP:0000508	Ptosis	5/5	OMIM:617143
60482	SLC5A7	HP:0000597	Ophthalmoparesis	5/5	OMIM:617143
60482	SLC5A7	HP:0000565	Esotropia	HP:0040284	ORPHA:98914
60495	HPSE2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:2704
60495	HPSE2	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2704
60495	HPSE2	HP:0000072	Hydroureter	-	OMIM:236730
60495	HPSE2	HP:0000020	Urinary incontinence	HP:0040282	ORPHA:2704
60495	HPSE2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:2704
60495	HPSE2	HP:0000028	Cryptorchidism	-	OMIM:236730
60495	HPSE2	HP:0000010	Recurrent urinary tract infections	HP:0040281	ORPHA:2704
60495	HPSE2	HP:0000010	Recurrent urinary tract infections	-	OMIM:236730
60495	HPSE2	HP:0000007	Autosomal recessive inheritance	-	OMIM:236730
60495	HPSE2	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:2704
60495	HPSE2	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:2704
60495	HPSE2	HP:0000126	Hydronephrosis	-	OMIM:236730
60495	HPSE2	HP:0002019	Constipation	HP:0040282	ORPHA:2704
60495	HPSE2	HP:0002019	Constipation	-	OMIM:236730
60495	HPSE2	HP:0010481	Urethral valve	-	OMIM:236730
60495	HPSE2	HP:0001959	Polydipsia	HP:0040283	ORPHA:2704
60495	HPSE2	HP:0001999	Abnormal facial shape	-	OMIM:236730
60495	HPSE2	HP:0000805	Enuresis	-	OMIM:236730
60495	HPSE2	HP:0000796	Urethral obstruction	HP:0040282	ORPHA:2704
60495	HPSE2	HP:0000796	Urethral obstruction	-	OMIM:236730
60495	HPSE2	HP:0000822	Hypertension	HP:0040283	ORPHA:2704
60495	HPSE2	HP:0005346	Abnormal facial expression	-	OMIM:236730
60506	NYX	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
60506	NYX	HP:0012047	Hemeralopia	-	OMIM:310500
60506	NYX	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
60506	NYX	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
60506	NYX	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
60506	NYX	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
60506	NYX	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:215
60506	NYX	HP:0007642	Congenital stationary night blindness	5/5	OMIM:310500
60506	NYX	HP:0001419	X-linked recessive inheritance	-	OMIM:310500
60506	NYX	HP:0003621	Juvenile onset	8/19	OMIM:180100
60506	NYX	HP:0000639	Nystagmus	HP:0040282	ORPHA:215
60506	NYX	HP:0030469	Abnormal dark-adapted electroretinogram	HP:0040281	ORPHA:215
60506	NYX	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	HP:0040283	ORPHA:215
60506	NYX	HP:0000662	Nyctalopia	26/28	OMIM:180100
60506	NYX	HP:0000662	Nyctalopia	HP:0040281	ORPHA:215
60506	NYX	HP:0030639	Congenital stationary night blindness with abnormal fundus	HP:0040282	ORPHA:215
60506	NYX	HP:0030638	Congenital stationary night blindness with normal fundus	HP:0040282	ORPHA:215
60506	NYX	HP:0011463	Childhood onset	3/19	OMIM:180100
60506	NYX	HP:0011463	Childhood onset	5/5	OMIM:310500
60506	NYX	HP:0011462	Young adult onset	8/19	OMIM:180100
60506	NYX	HP:0007703	Abnormality of retinal pigmentation	HP:0040284	ORPHA:215
60506	NYX	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
60506	NYX	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
60506	NYX	HP:0011003	High myopia	4/5	OMIM:310500
60506	NYX	HP:0030329	Retinal thinning	HP:0040284	ORPHA:215
60506	NYX	HP:0007984	Electronegative electroretinogram	HP:0040283	ORPHA:215
60506	NYX	HP:0000486	Strabismus	HP:0040282	ORPHA:215
60506	NYX	HP:0031705	Compensatory head posture	HP:0040283	ORPHA:215
60506	NYX	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
60506	NYX	HP:0000575	Scotoma	5/18	OMIM:180100
60506	NYX	HP:0000540	Hypermetropia	HP:0040283	ORPHA:215
60506	NYX	HP:0000551	Color vision defect	HP:0040284	ORPHA:215
60506	NYX	HP:0000543	Optic disc pallor	1/1	OMIM:180100
60506	NYX	HP:0000545	Myopia	-	OMIM:180100
60506	NYX	HP:0000545	Myopia	HP:0040281	ORPHA:215
60509	AGBL5	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
60509	AGBL5	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
60509	AGBL5	HP:0000007	Autosomal recessive inheritance	-	OMIM:617023
60509	AGBL5	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
60509	AGBL5	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
60509	AGBL5	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
60509	AGBL5	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
60509	AGBL5	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
60509	AGBL5	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
60509	AGBL5	HP:0003621	Juvenile onset	8/19	OMIM:180100
60509	AGBL5	HP:0003621	Juvenile onset	3/3	OMIM:617023
60509	AGBL5	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
60509	AGBL5	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
60509	AGBL5	HP:0000618	Blindness	HP:0040281	ORPHA:791
60509	AGBL5	HP:0000613	Photophobia	HP:0040281	ORPHA:791
60509	AGBL5	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
60509	AGBL5	HP:0031790	Mixed astigmatism	1/3	OMIM:617023
60509	AGBL5	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
60509	AGBL5	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
60509	AGBL5	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
60509	AGBL5	HP:0000662	Nyctalopia	-	OMIM:617023
60509	AGBL5	HP:0000662	Nyctalopia	26/28	OMIM:180100
60509	AGBL5	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
60509	AGBL5	HP:0011463	Childhood onset	3/19	OMIM:180100
60509	AGBL5	HP:0011462	Young adult onset	8/19	OMIM:180100
60509	AGBL5	HP:0030786	Photopsia	HP:0040283	ORPHA:791
60509	AGBL5	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
60509	AGBL5	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
60509	AGBL5	HP:0000980	Pallor	-	OMIM:617023
60509	AGBL5	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
60509	AGBL5	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
60509	AGBL5	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
60509	AGBL5	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
60509	AGBL5	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
60509	AGBL5	HP:0007737	Bone spicule pigmentation of the retina	3/3	OMIM:617023
60509	AGBL5	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
60509	AGBL5	HP:0007843	Attenuation of retinal blood vessels	3/3	OMIM:617023
60509	AGBL5	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
60509	AGBL5	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
60509	AGBL5	HP:0007994	Peripheral visual field loss	-	OMIM:617023
60509	AGBL5	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
60509	AGBL5	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
60509	AGBL5	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
60509	AGBL5	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
60509	AGBL5	HP:0000510	Rod-cone dystrophy	3/3	OMIM:617023
60509	AGBL5	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
60509	AGBL5	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
60509	AGBL5	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
60509	AGBL5	HP:0000575	Scotoma	5/18	OMIM:180100
60509	AGBL5	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
60509	AGBL5	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
60509	AGBL5	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
60509	AGBL5	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
60509	AGBL5	HP:0000543	Optic disc pallor	1/1	OMIM:180100
60509	AGBL5	HP:0000545	Myopia	-	OMIM:180100
60509	AGBL5	HP:0000545	Myopia	1/3	OMIM:617023
60528	ELAC2	HP:0001252	Hypotonia	3/5	OMIM:615440
60528	ELAC2	HP:0001263	Global developmental delay	3/5	OMIM:615440
60528	ELAC2	HP:0003819	Death in childhood	1/5	OMIM:615440
60528	ELAC2	HP:0008897	Postnatal growth retardation	1/5	OMIM:615440
60528	ELAC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615440
60528	ELAC2	HP:0011923	Decreased activity of mitochondrial complex I	4/4	OMIM:615440
60528	ELAC2	HP:0003593	Infantile onset	5/5	OMIM:615440
60528	ELAC2	HP:0003128	Lactic acidosis	3/5	OMIM:615440
60528	ELAC2	HP:0000252	Microcephaly	1/5	OMIM:615440
60528	ELAC2	HP:0001522	Death in infancy	2/5	OMIM:615440
60528	ELAC2	HP:0001508	Failure to thrive	1/5	OMIM:615440
60528	ELAC2	HP:0001511	Intrauterine growth retardation	2/5	OMIM:615440
60528	ELAC2	HP:0001639	Hypertrophic cardiomyopathy	5/5	OMIM:615440
60528	ELAC2	HP:0001635	Congestive heart failure	3/5	OMIM:615440
60528	ELAC2	HP:0000407	Sensorineural hearing impairment	1/5	OMIM:615440
60529	ALX4	HP:0002475	Myelomeningocele	HP:0040284	ORPHA:60015
60529	ALX4	HP:0010941	Aplasia of the nasal bone	1/2	OMIM:613451
60529	ALX4	HP:0003764	Nevus	1/2	OMIM:613451
60529	ALX4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
60529	ALX4	HP:0001293	Cranial nerve compression	-	OMIM:131300
60529	ALX4	HP:0100809	Scalp tenderness	HP:0040283	ORPHA:60015
60529	ALX4	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:228390
60529	ALX4	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:228390
60529	ALX4	HP:0001250	Seizure	HP:0040282	ORPHA:52022
60529	ALX4	HP:0001250	Seizure	HP:0040284	ORPHA:60015
60529	ALX4	HP:0001252	Hypotonia	2/7	OMIM:615777
60529	ALX4	HP:0001249	Intellectual disability	HP:0040283	OMIM:613451
60529	ALX4	HP:0001249	Intellectual disability	HP:0040283	ORPHA:52022
60529	ALX4	HP:0001249	Intellectual disability	HP:0040284	ORPHA:60015
60529	ALX4	HP:0001249	Intellectual disability	5/7	OMIM:615777
60529	ALX4	HP:0001263	Global developmental delay	1/2	OMIM:613451
60529	ALX4	HP:0001263	Global developmental delay	HP:0040281	ORPHA:52022
60529	ALX4	HP:0001263	Global developmental delay	-	OMIM:615777
60529	ALX4	HP:0007418	Alopecia totalis	2/2	OMIM:613451
60529	ALX4	HP:0007385	Aplasia cutis congenita of scalp	HP:0040284	ORPHA:60015
60529	ALX4	HP:0007385	Aplasia cutis congenita of scalp	-	OMIM:609597
60529	ALX4	HP:0008689	Bilateral cryptorchidism	2/2	OMIM:613451
60529	ALX4	HP:0002515	Waddling gait	54/102	OMIM:131300
60529	ALX4	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:35093
60529	ALX4	HP:0000046	Small scrotum	HP:0040282	ORPHA:228390
60529	ALX4	HP:0000054	Micropenis	HP:0040282	ORPHA:52022
60529	ALX4	HP:0001382	Joint hypermobility	-	OMIM:615777
60529	ALX4	HP:0002697	Parietal foramina	HP:0040281	ORPHA:60015
60529	ALX4	HP:0002697	Parietal foramina	1/2	OMIM:613451
60529	ALX4	HP:0002697	Parietal foramina	6/6	OMIM:609597
60529	ALX4	HP:0002697	Parietal foramina	HP:0040282	ORPHA:52022
60529	ALX4	HP:0001363	Craniosynostosis	HP:0040284	ORPHA:60015
60529	ALX4	HP:0001363	Craniosynostosis	-	OMIM:613451
60529	ALX4	HP:0001363	Craniosynostosis	2/2	OMIM:615529
60529	ALX4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
60529	ALX4	HP:0001362	Calvarial skull defect	2/2	OMIM:613451
60529	ALX4	HP:0001362	Calvarial skull defect	HP:0040281	ORPHA:228390
60529	ALX4	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:228390
60529	ALX4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
60529	ALX4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
60529	ALX4	HP:0001324	Muscle weakness	40/96	OMIM:131300
60529	ALX4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
60529	ALX4	HP:0000007	Autosomal recessive inheritance	-	OMIM:613451
60529	ALX4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
60529	ALX4	HP:0002667	Nephroblastoma	HP:0040283	ORPHA:52022
60529	ALX4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
60529	ALX4	HP:0000006	Autosomal dominant inheritance	-	OMIM:615529
60529	ALX4	HP:0000006	Autosomal dominant inheritance	-	OMIM:609597
60529	ALX4	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:613451
60529	ALX4	HP:0002650	Scoliosis	12/14	OMIM:131300
60529	ALX4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
60529	ALX4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
60529	ALX4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
60529	ALX4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
60529	ALX4	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:228390
60529	ALX4	HP:0000175	Cleft palate	HP:0040284	ORPHA:60015
60529	ALX4	HP:0000175	Cleft palate	2/7	OMIM:615777
60529	ALX4	HP:0000135	Hypogonadism	HP:0040281	ORPHA:228390
60529	ALX4	HP:0410030	Cleft lip	HP:0040284	ORPHA:60015
60529	ALX4	HP:0002762	Multiple exostoses	HP:0040284	ORPHA:60015
60529	ALX4	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:52022
60529	ALX4	HP:0002013	Vomiting	HP:0040283	ORPHA:60015
60529	ALX4	HP:0002007	Frontal bossing	HP:0040282	ORPHA:228390
60529	ALX4	HP:0002007	Frontal bossing	HP:0040283	ORPHA:35093
60529	ALX4	HP:0011803	Bifid nose	HP:0040281	ORPHA:228390
60529	ALX4	HP:0002085	Occipital encephalocele	HP:0040284	ORPHA:60015
60529	ALX4	HP:0002084	Encephalocele	1/2	OMIM:613451
60529	ALX4	HP:0002084	Encephalocele	HP:0040281	ORPHA:228390
60529	ALX4	HP:0002084	Encephalocele	-	OMIM:609597
60529	ALX4	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:613451
60529	ALX4	HP:0003388	Easy fatigability	36/76	OMIM:131300
60529	ALX4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
60529	ALX4	HP:0010544	Vertical nystagmus	1/2	OMIM:613451
60529	ALX4	HP:0003577	Congenital onset	6/6	OMIM:609597
60529	ALX4	HP:0003577	Congenital onset	1/2	OMIM:613451
60529	ALX4	HP:0002213	Fine hair	1/2	OMIM:613451
60529	ALX4	HP:0002213	Fine hair	HP:0040282	ORPHA:228390
60529	ALX4	HP:0100777	Exostoses	HP:0040281	ORPHA:52022
60529	ALX4	HP:0003510	Severe short stature	7/7	OMIM:615777
60529	ALX4	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:228390
60529	ALX4	HP:0002335	Agenesis of cerebellar vermis	1/2	OMIM:613451
60529	ALX4	HP:0002335	Agenesis of cerebellar vermis	HP:0040282	ORPHA:228390
60529	ALX4	HP:0002315	Headache	-	OMIM:131300
60529	ALX4	HP:0002315	Headache	HP:0040283	ORPHA:60015
60529	ALX4	HP:0004976	Knee dislocation	6/7	OMIM:615777
60529	ALX4	HP:0009803	Short phalanx of finger	-	OMIM:615777
60529	ALX4	HP:0008497	Congenital craniofacial dysostosis	HP:0040284	ORPHA:60015
60529	ALX4	HP:0010761	Broad columella	1/2	OMIM:613451
60529	ALX4	HP:0009763	Limb pain	63/92	OMIM:131300
60529	ALX4	HP:0003621	Juvenile onset	-	OMIM:131300
60529	ALX4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
60529	ALX4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
60529	ALX4	HP:0000639	Nystagmus	HP:0040281	ORPHA:228390
60529	ALX4	HP:0000639	Nystagmus	HP:0040282	ORPHA:52022
60529	ALX4	HP:0000633	Decreased lacrimation	HP:0040283	OMIM:613451
60529	ALX4	HP:6001056	Out-toeing	-	OMIM:131300
60529	ALX4	HP:0000651	Diplopia	-	OMIM:131300
60529	ALX4	HP:0001956	Truncal obesity	2/7	OMIM:615777
60529	ALX4	HP:0001903	Anemia	HP:0040283	ORPHA:52022
60529	ALX4	HP:0001903	Anemia	HP:0040283	OMIM:131300
60529	ALX4	HP:0010049	Short metacarpal	-	OMIM:615777
60529	ALX4	HP:0000698	Conical tooth	1/2	OMIM:613451
60529	ALX4	HP:0000698	Conical tooth	HP:0040282	ORPHA:228390
60529	ALX4	HP:0000678	Dental crowding	-	OMIM:615777
60529	ALX4	HP:0011326	Anterior plagiocephaly	2/2	OMIM:613451
60529	ALX4	HP:0000687	Widely spaced teeth	1/2	OMIM:613451
60529	ALX4	HP:0000653	Sparse eyelashes	-	OMIM:613451
60529	ALX4	HP:0000670	Carious teeth	-	OMIM:131300
60529	ALX4	HP:0011304	Broad thumb	2/7	OMIM:615777
60529	ALX4	HP:0011304	Broad thumb	HP:0040284	ORPHA:60015
60529	ALX4	HP:0000668	Hypodontia	-	OMIM:615777
60529	ALX4	HP:0000664	Synophrys	-	OMIM:615777
60529	ALX4	HP:0000666	Horizontal nystagmus	1/2	OMIM:613451
60529	ALX4	HP:0004331	Decreased skull ossification	HP:0040281	ORPHA:52022
60529	ALX4	HP:0004396	Poor appetite	-	OMIM:131300
60529	ALX4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
60529	ALX4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
60529	ALX4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
60529	ALX4	HP:0003026	Short long bone	7/7	OMIM:615777
60529	ALX4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
60529	ALX4	HP:0012745	Short palpebral fissure	-	OMIM:613451
60529	ALX4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
60529	ALX4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
60529	ALX4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
60529	ALX4	HP:0012721	Venous malformation	HP:0040283	ORPHA:60015
60529	ALX4	HP:0000750	Delayed speech and language development	-	OMIM:615777
60529	ALX4	HP:0011461	Fetal onset	1/2	OMIM:613451
60529	ALX4	HP:0011461	Fetal onset	7/7	OMIM:615777
60529	ALX4	HP:0000774	Narrow chest	2/7	OMIM:615777
60529	ALX4	HP:0004440	Coronal craniosynostosis	HP:0040281	ORPHA:228390
60529	ALX4	HP:0003191	Cleft ala nasi	1/2	OMIM:613451
60529	ALX4	HP:0000926	Platyspondyly	1/7	OMIM:615777
60529	ALX4	HP:0003180	Flat acetabular roof	-	OMIM:615777
60529	ALX4	HP:0004482	Relative macrocephaly	-	OMIM:615777
60529	ALX4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
60529	ALX4	HP:0012811	Wide nasal ridge	1/2	OMIM:613451
60529	ALX4	HP:0012811	Wide nasal ridge	HP:0040283	OMIM:609597
60529	ALX4	HP:0000822	Hypertension	HP:0040283	ORPHA:52022
60529	ALX4	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:52022
60529	ALX4	HP:0000823	Delayed puberty	-	OMIM:131300
60529	ALX4	HP:0000823	Delayed puberty	HP:0040283	ORPHA:52022
60529	ALX4	HP:0000894	Short clavicles	HP:0040284	ORPHA:60015
60529	ALX4	HP:0000894	Short clavicles	-	OMIM:615777
60529	ALX4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
60529	ALX4	HP:0045075	Sparse eyebrow	20/20	OMIM:613451
60529	ALX4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
60529	ALX4	HP:0000966	Hypohidrosis	HP:0040283	OMIM:613451
60529	ALX4	HP:0000932	Abnormal posterior cranial fossa morphology	HP:0040283	ORPHA:60015
60529	ALX4	HP:0008070	Sparse hair	1/2	OMIM:613451
60529	ALX4	HP:0040197	Encephalomalacia	HP:0040284	ORPHA:60015
60529	ALX4	HP:0000286	Epicanthus	HP:0040281	ORPHA:52022
60529	ALX4	HP:0000286	Epicanthus	1/7	OMIM:615777
60529	ALX4	HP:0000280	Coarse facial features	2/7	OMIM:615777
60529	ALX4	HP:0000289	Broad philtrum	2/2	OMIM:613451
60529	ALX4	HP:0000289	Broad philtrum	HP:0040281	ORPHA:228390
60529	ALX4	HP:0001596	Alopecia	HP:0040281	ORPHA:228390
60529	ALX4	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:35093
60529	ALX4	HP:0000269	Prominent occiput	HP:0040283	ORPHA:35093
60529	ALX4	HP:0002827	Hip dislocation	3/7	OMIM:615777
60529	ALX4	HP:0001583	Rotary nystagmus	1/2	OMIM:613451
60529	ALX4	HP:0000252	Microcephaly	1/2	OMIM:613451
60529	ALX4	HP:0000252	Microcephaly	-	OMIM:615777
60529	ALX4	HP:0000248	Brachycephaly	HP:0040281	ORPHA:228390
60529	ALX4	HP:0000248	Brachycephaly	2/2	OMIM:613451
60529	ALX4	HP:0000248	Brachycephaly	HP:0040281	ORPHA:52022
60529	ALX4	HP:0001562	Oligohydramnios	1/2	OMIM:613451
60529	ALX4	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:228390
60529	ALX4	HP:0002857	Genu valgum	-	OMIM:131300
60529	ALX4	HP:0001533	Slender build	-	OMIM:131300
60529	ALX4	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:228390
60529	ALX4	HP:0001511	Intrauterine growth retardation	1/2	OMIM:613451
60529	ALX4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
60529	ALX4	HP:0007807	Optic nerve compression	-	OMIM:131300
60529	ALX4	HP:0012368	Flat face	7/7	OMIM:615777
60529	ALX4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
60529	ALX4	HP:0000365	Hearing impairment	10/67	OMIM:131300
60529	ALX4	HP:0000369	Low-set ears	HP:0040282	ORPHA:228390
60529	ALX4	HP:0000369	Low-set ears	1/2	OMIM:613451
60529	ALX4	HP:0000343	Long philtrum	1/7	OMIM:615777
60529	ALX4	HP:0011001	Increased bone mineral density	-	OMIM:131300
60529	ALX4	HP:0000347	Micrognathia	HP:0040281	ORPHA:52022
60529	ALX4	HP:0000316	Hypertelorism	HP:0040281	ORPHA:228390
60529	ALX4	HP:0000316	Hypertelorism	HP:0040283	OMIM:609597
60529	ALX4	HP:0000316	Hypertelorism	2/2	OMIM:613451
60529	ALX4	HP:0000311	Round face	2/7	OMIM:615777
60529	ALX4	HP:0000322	Short philtrum	HP:0040282	ORPHA:52022
60529	ALX4	HP:0002970	Genu varum	-	OMIM:615777
60529	ALX4	HP:0000303	Mandibular prognathia	-	OMIM:131300
60529	ALX4	HP:0012480	Abnormal cerebral vein morphology	HP:0040284	ORPHA:60015
60529	ALX4	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:228390
60529	ALX4	HP:0005280	Depressed nasal bridge	HP:0040283	OMIM:609597
60529	ALX4	HP:0005280	Depressed nasal bridge	-	OMIM:613451
60529	ALX4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
60529	ALX4	HP:0000486	Strabismus	HP:0040281	ORPHA:228390
60529	ALX4	HP:0000486	Strabismus	2/2	OMIM:613451
60529	ALX4	HP:0000486	Strabismus	HP:0040282	ORPHA:52022
60529	ALX4	HP:0000463	Anteverted nares	HP:0040281	ORPHA:228390
60529	ALX4	HP:0000463	Anteverted nares	2/2	OMIM:613451
60529	ALX4	HP:0000455	Broad nasal tip	HP:0040281	ORPHA:52022
60529	ALX4	HP:0000457	Depressed nasal ridge	-	OMIM:613451
60529	ALX4	HP:0000456	Bifid nasal tip	2/2	OMIM:613451
60529	ALX4	HP:0000470	Short neck	1/7	OMIM:615777
60529	ALX4	HP:0031585	Tessier number 13 facial cleft	1/2	OMIM:613451
60529	ALX4	HP:0000437	Depressed nasal tip	1/2	OMIM:613451
60529	ALX4	HP:0000437	Depressed nasal tip	HP:0040281	ORPHA:52022
60529	ALX4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
60529	ALX4	HP:0001763	Pes planus	1/7	OMIM:615777
60529	ALX4	HP:0000431	Wide nasal bridge	2/2	OMIM:613451
60529	ALX4	HP:0000430	Underdeveloped nasal alae	HP:0040281	ORPHA:52022
60529	ALX4	HP:0000430	Underdeveloped nasal alae	HP:0040281	ORPHA:228390
60529	ALX4	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:52022
60529	ALX4	HP:0001840	Metatarsus adductus	-	OMIM:615777
60529	ALX4	HP:0000520	Proptosis	2/4	OMIM:131300
60529	ALX4	HP:0000520	Proptosis	7/7	OMIM:615777
60529	ALX4	HP:0000506	Telecanthus	HP:0040281	ORPHA:228390
60529	ALX4	HP:0000506	Telecanthus	2/2	OMIM:613451
60529	ALX4	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:228390
60529	ALX4	HP:0000582	Upslanted palpebral fissure	-	OMIM:613451
60529	ALX4	HP:0000581	Blepharophimosis	2/2	OMIM:613451
60529	ALX4	HP:0000592	Blue sclerae	2/7	OMIM:615777
60529	ALX4	HP:0011220	Prominent forehead	1/2	OMIM:613451
60529	ALX4	HP:0000568	Microphthalmia	HP:0040282	ORPHA:228390
60529	ALX4	HP:0000568	Microphthalmia	1/2	OMIM:613451
60529	ALX4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
60529	ALX4	HP:0012514	Lower limb pain	4/4	OMIM:131300
60558	GUF1	HP:0001285	Spastic tetraparesis	1/3	OMIM:617065
60558	GUF1	HP:0001254	Lethargy	1/3	OMIM:617065
60558	GUF1	HP:0001250	Seizure	-	OMIM:617065
60558	GUF1	HP:0001252	Hypotonia	3/3	OMIM:617065
60558	GUF1	HP:0001266	Choreoathetosis	1/3	OMIM:617065
60558	GUF1	HP:0001257	Spasticity	1/3	OMIM:617065
60558	GUF1	HP:0002521	Hypsarrhythmia	HP:0040281	ORPHA:697160
60558	GUF1	HP:0002521	Hypsarrhythmia	2/3	OMIM:617065
60558	GUF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617065
60558	GUF1	HP:0001336	Myoclonus	HP:0040281	ORPHA:697160
60558	GUF1	HP:0001336	Myoclonus	1/3	OMIM:617065
60558	GUF1	HP:0008936	Axial hypotonia	2/3	OMIM:617065
60558	GUF1	HP:0002120	Cerebral cortical atrophy	1/2	OMIM:617065
60558	GUF1	HP:0002187	Intellectual disability, profound	-	OMIM:617065
60558	GUF1	HP:0033258	Sudden unexpected death in epilepsy	1/3	OMIM:617065
60558	GUF1	HP:0003577	Congenital onset	2/3	OMIM:617065
60558	GUF1	HP:0200134	Epileptic encephalopathy	-	OMIM:617065
60558	GUF1	HP:0033363	Hyaline membranes	2/3	OMIM:617065
60558	GUF1	HP:0011968	Feeding difficulties	1/3	OMIM:617065
60558	GUF1	HP:0002376	Developmental regression	HP:0040281	ORPHA:697160
60558	GUF1	HP:0003623	Neonatal onset	1/3	OMIM:617065
60558	GUF1	HP:0012736	Profound global developmental delay	3/3	OMIM:617065
60558	GUF1	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:697160
60558	GUF1	HP:0000817	Reduced eye contact	1/3	OMIM:617065
60558	GUF1	HP:0001518	Small for gestational age	2/3	OMIM:617065
60558	GUF1	HP:0001511	Intrauterine growth retardation	1/3	OMIM:617065
60558	GUF1	HP:0012469	Infantile spasms	HP:0040281	ORPHA:697160
60558	GUF1	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:697160
60561	RINT1	HP:0002480	Hepatic encephalopathy	-	OMIM:618641
60561	RINT1	HP:0003819	Death in childhood	1/3	OMIM:618641
60561	RINT1	HP:0001397	Hepatic steatosis	2/3	OMIM:618641
60561	RINT1	HP:0001396	Cholestasis	-	OMIM:618641
60561	RINT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618641
60561	RINT1	HP:0008151	Prolonged prothrombin time	3/3	OMIM:618641
60561	RINT1	HP:0010574	Abnormality of the epiphysis of the femoral head	3/3	OMIM:618641
60561	RINT1	HP:0003593	Infantile onset	-	OMIM:618641
60561	RINT1	HP:0002240	Hepatomegaly	3/3	OMIM:618641
60561	RINT1	HP:0008479	Hypoplastic vertebral bodies	3/3	OMIM:618641
60561	RINT1	HP:0001987	Hyperammonemia	-	OMIM:618641
60561	RINT1	HP:0004322	Short stature	-	OMIM:618641
60561	RINT1	HP:0000926	Platyspondyly	1/3	OMIM:618641
60561	RINT1	HP:0003170	Abnormal acetabulum morphology	2/3	OMIM:618641
60561	RINT1	HP:0012852	Hepatic bridging fibrosis	1/3	OMIM:618641
60561	RINT1	HP:0004568	Beaking of vertebral bodies	3/3	OMIM:618641
60561	RINT1	HP:0000952	Jaundice	-	OMIM:618641
60561	RINT1	HP:0006554	Acute hepatic failure	-	OMIM:618641
60561	RINT1	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:618641
60561	RINT1	HP:0001744	Splenomegaly	2/3	OMIM:618641
60561	RINT1	HP:0001762	Talipes equinovarus	1/3	OMIM:618641
60675	PROK2	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:432
60675	PROK2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
60675	PROK2	HP:0001250	Seizure	1/4	OMIM:610628
60675	PROK2	HP:0001250	Seizure	HP:0040283	ORPHA:478
60675	PROK2	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
60675	PROK2	HP:0001251	Ataxia	HP:0040283	ORPHA:478
60675	PROK2	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
60675	PROK2	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:432
60675	PROK2	HP:0008734	Decreased testicular size	-	OMIM:610628
60675	PROK2	HP:0008734	Decreased testicular size	1/1	OMIM:146110
60675	PROK2	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
60675	PROK2	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
60675	PROK2	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:432
60675	PROK2	HP:0003829	Typified by incomplete penetrance	-	OMIM:610628
60675	PROK2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:432
60675	PROK2	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:610628
60675	PROK2	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
60675	PROK2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
60675	PROK2	HP:0000054	Micropenis	1/1	OMIM:146110
60675	PROK2	HP:0000054	Micropenis	HP:0040281	ORPHA:478
60675	PROK2	HP:0000054	Micropenis	HP:0040281	ORPHA:432
60675	PROK2	HP:0000054	Micropenis	-	OMIM:610628
60675	PROK2	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:432
60675	PROK2	HP:0000028	Cryptorchidism	1/3	OMIM:610628
60675	PROK2	HP:0000028	Cryptorchidism	-	OMIM:146110
60675	PROK2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
60675	PROK2	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:432
60675	PROK2	HP:0000027	Azoospermia	HP:0040281	ORPHA:432
60675	PROK2	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:432
60675	PROK2	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
60675	PROK2	HP:0000013	Hypoplasia of the uterus	HP:0040282	ORPHA:432
60675	PROK2	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
60675	PROK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
60675	PROK2	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
60675	PROK2	HP:0001335	Bimanual synkinesia	1/4	OMIM:610628
60675	PROK2	HP:0001337	Tremor	HP:0040283	ORPHA:478
60675	PROK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:610628
60675	PROK2	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
60675	PROK2	HP:0032466	Aplasia of the olfactory bulb	1/1	OMIM:610628
60675	PROK2	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:432
60675	PROK2	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
60675	PROK2	HP:0000175	Cleft palate	HP:0040283	ORPHA:432
60675	PROK2	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
60675	PROK2	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:432
60675	PROK2	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:432
60675	PROK2	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:432
60675	PROK2	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
60675	PROK2	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
60675	PROK2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
60675	PROK2	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:432
60675	PROK2	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:432
60675	PROK2	HP:0008197	Absence of pubertal development	3/3	OMIM:610628
60675	PROK2	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:432
60675	PROK2	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
60675	PROK2	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
60675	PROK2	HP:0002231	Sparse body hair	HP:0040281	ORPHA:432
60675	PROK2	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
60675	PROK2	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:432
60675	PROK2	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:432
60675	PROK2	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
60675	PROK2	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
60675	PROK2	HP:0003621	Juvenile onset	2/2	OMIM:146110
60675	PROK2	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
60675	PROK2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
60675	PROK2	HP:0000802	Impotence	HP:0040281	ORPHA:432
60675	PROK2	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
60675	PROK2	HP:0000771	Gynecomastia	HP:0040282	ORPHA:432
60675	PROK2	HP:0000771	Gynecomastia	0/1	OMIM:146110
60675	PROK2	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
60675	PROK2	HP:0000739	Anxiety	HP:0040282	ORPHA:432
60675	PROK2	HP:0000716	Depression	HP:0040282	ORPHA:432
60675	PROK2	HP:0000789	Infertility	HP:0040283	OMIM:146110
60675	PROK2	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:432
60675	PROK2	HP:0000786	Primary amenorrhea	-	OMIM:610628
60675	PROK2	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
60675	PROK2	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
60675	PROK2	HP:0004409	Hyposmia	2/4	OMIM:610628
60675	PROK2	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
60675	PROK2	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
60675	PROK2	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:432
60675	PROK2	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
60675	PROK2	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
60675	PROK2	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:432
60675	PROK2	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
60675	PROK2	HP:0000819	Diabetes mellitus	1/4	OMIM:610628
60675	PROK2	HP:0000823	Delayed puberty	HP:0040282	ORPHA:432
60675	PROK2	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
60675	PROK2	HP:0000939	Osteoporosis	HP:0040282	ORPHA:432
60675	PROK2	HP:0000939	Osteoporosis	2/8	OMIM:610628
60675	PROK2	HP:0000938	Osteopenia	HP:0040282	ORPHA:432
60675	PROK2	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:432
60675	PROK2	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
60675	PROK2	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
60675	PROK2	HP:0030019	Increased female libido	HP:0040281	ORPHA:432
60675	PROK2	HP:0001513	Obesity	HP:0040283	ORPHA:478
60675	PROK2	HP:0001513	Obesity	HP:0040283	OMIM:610628
60675	PROK2	HP:0012385	Camptodactyly	HP:0040283	ORPHA:432
60675	PROK2	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:432
60675	PROK2	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
60675	PROK2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:432
60675	PROK2	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:432
60675	PROK2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
60675	PROK2	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:432
60675	PROK2	HP:0000458	Anosmia	1/4	OMIM:610628
60675	PROK2	HP:0000458	Anosmia	HP:0040281	ORPHA:478
60675	PROK2	HP:0001763	Pes planus	HP:0040283	ORPHA:478
60675	PROK2	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
60675	PROK2	HP:0000508	Ptosis	HP:0040283	ORPHA:478
60675	PROK2	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
60675	PROK2	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
60676	PAPPA2	HP:0001166	Arachnodactyly	2/2	OMIM:619489
60676	PAPPA2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
60676	PAPPA2	HP:0001293	Cranial nerve compression	-	OMIM:131300
60676	PAPPA2	HP:0100807	Long fingers	5/5	OMIM:619489
60676	PAPPA2	HP:0001252	Hypotonia	2/7	OMIM:615777
60676	PAPPA2	HP:0001249	Intellectual disability	5/7	OMIM:615777
60676	PAPPA2	HP:0001263	Global developmental delay	-	OMIM:615777
60676	PAPPA2	HP:0002515	Waddling gait	54/102	OMIM:131300
60676	PAPPA2	HP:0001382	Joint hypermobility	-	OMIM:615777
60676	PAPPA2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
60676	PAPPA2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
60676	PAPPA2	HP:0008897	Postnatal growth retardation	7/7	OMIM:619489
60676	PAPPA2	HP:0001328	Specific learning disability	2/2	OMIM:619489
60676	PAPPA2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
60676	PAPPA2	HP:0001324	Muscle weakness	40/96	OMIM:131300
60676	PAPPA2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
60676	PAPPA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619489
60676	PAPPA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
60676	PAPPA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
60676	PAPPA2	HP:0002650	Scoliosis	12/14	OMIM:131300
60676	PAPPA2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
60676	PAPPA2	HP:0031107	Decreased fibular diameter	4/5	OMIM:619489
60676	PAPPA2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
60676	PAPPA2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
60676	PAPPA2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
60676	PAPPA2	HP:0000175	Cleft palate	2/7	OMIM:615777
60676	PAPPA2	HP:0003388	Easy fatigability	36/76	OMIM:131300
60676	PAPPA2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
60676	PAPPA2	HP:0010511	Long toe	2/5	OMIM:619489
60676	PAPPA2	HP:0008283	Fasting hyperinsulinemia	3/5	OMIM:619489
60676	PAPPA2	HP:0003510	Severe short stature	7/7	OMIM:615777
60676	PAPPA2	HP:0002315	Headache	-	OMIM:131300
60676	PAPPA2	HP:0004976	Knee dislocation	6/7	OMIM:615777
60676	PAPPA2	HP:0009803	Short phalanx of finger	-	OMIM:615777
60676	PAPPA2	HP:0009763	Limb pain	63/92	OMIM:131300
60676	PAPPA2	HP:0003621	Juvenile onset	2/2	OMIM:619489
60676	PAPPA2	HP:0003621	Juvenile onset	-	OMIM:131300
60676	PAPPA2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
60676	PAPPA2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
60676	PAPPA2	HP:6001056	Out-toeing	-	OMIM:131300
60676	PAPPA2	HP:0000651	Diplopia	-	OMIM:131300
60676	PAPPA2	HP:0001956	Truncal obesity	2/7	OMIM:615777
60676	PAPPA2	HP:0001903	Anemia	HP:0040283	OMIM:131300
60676	PAPPA2	HP:0010049	Short metacarpal	-	OMIM:615777
60676	PAPPA2	HP:0000684	Delayed eruption of teeth	4/7	OMIM:619489
60676	PAPPA2	HP:0000678	Dental crowding	-	OMIM:615777
60676	PAPPA2	HP:0000670	Carious teeth	-	OMIM:131300
60676	PAPPA2	HP:0011304	Broad thumb	2/7	OMIM:615777
60676	PAPPA2	HP:0000668	Hypodontia	-	OMIM:615777
60676	PAPPA2	HP:0000664	Synophrys	-	OMIM:615777
60676	PAPPA2	HP:0004322	Short stature	2/2	OMIM:619489
60676	PAPPA2	HP:0004396	Poor appetite	-	OMIM:131300
60676	PAPPA2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
60676	PAPPA2	HP:0034184	Increased insulin like growth factor binding protein acid labile subunit concentration	2/2	OMIM:619489
60676	PAPPA2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
60676	PAPPA2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
60676	PAPPA2	HP:0003026	Short long bone	7/7	OMIM:615777
60676	PAPPA2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
60676	PAPPA2	HP:0004349	Reduced bone mineral density	4/4	OMIM:619489
60676	PAPPA2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
60676	PAPPA2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
60676	PAPPA2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
60676	PAPPA2	HP:0000750	Delayed speech and language development	-	OMIM:615777
60676	PAPPA2	HP:0011461	Fetal onset	7/7	OMIM:615777
60676	PAPPA2	HP:0000774	Narrow chest	2/7	OMIM:615777
60676	PAPPA2	HP:0000926	Platyspondyly	1/7	OMIM:615777
60676	PAPPA2	HP:0003180	Flat acetabular roof	-	OMIM:615777
60676	PAPPA2	HP:0004482	Relative macrocephaly	-	OMIM:615777
60676	PAPPA2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
60676	PAPPA2	HP:0000823	Delayed puberty	-	OMIM:131300
60676	PAPPA2	HP:0000894	Short clavicles	-	OMIM:615777
60676	PAPPA2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
60676	PAPPA2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
60676	PAPPA2	HP:0000938	Osteopenia	2/2	OMIM:619489
60676	PAPPA2	HP:0000286	Epicanthus	1/7	OMIM:615777
60676	PAPPA2	HP:0000280	Coarse facial features	2/7	OMIM:615777
60676	PAPPA2	HP:0002827	Hip dislocation	3/7	OMIM:615777
60676	PAPPA2	HP:0000252	Microcephaly	7/7	OMIM:619489
60676	PAPPA2	HP:0000252	Microcephaly	-	OMIM:615777
60676	PAPPA2	HP:0002857	Genu valgum	-	OMIM:131300
60676	PAPPA2	HP:0001533	Slender build	-	OMIM:131300
60676	PAPPA2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
60676	PAPPA2	HP:0007807	Optic nerve compression	-	OMIM:131300
60676	PAPPA2	HP:0012368	Flat face	7/7	OMIM:615777
60676	PAPPA2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
60676	PAPPA2	HP:0000365	Hearing impairment	10/67	OMIM:131300
60676	PAPPA2	HP:0000343	Long philtrum	1/7	OMIM:615777
60676	PAPPA2	HP:0011001	Increased bone mineral density	-	OMIM:131300
60676	PAPPA2	HP:0000311	Round face	2/7	OMIM:615777
60676	PAPPA2	HP:0000331	Short chin	7/7	OMIM:619489
60676	PAPPA2	HP:0000325	Triangular face	2/2	OMIM:619489
60676	PAPPA2	HP:0002970	Genu varum	-	OMIM:615777
60676	PAPPA2	HP:0000303	Mandibular prognathia	-	OMIM:131300
60676	PAPPA2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
60676	PAPPA2	HP:0000470	Short neck	1/7	OMIM:615777
60676	PAPPA2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
60676	PAPPA2	HP:0001763	Pes planus	1/7	OMIM:615777
60676	PAPPA2	HP:0001840	Metatarsus adductus	-	OMIM:615777
60676	PAPPA2	HP:0000520	Proptosis	2/4	OMIM:131300
60676	PAPPA2	HP:0000520	Proptosis	7/7	OMIM:615777
60676	PAPPA2	HP:0000592	Blue sclerae	2/7	OMIM:615777
60676	PAPPA2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
60676	PAPPA2	HP:0012514	Lower limb pain	4/4	OMIM:131300
60681	FKBP10	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
60681	FKBP10	HP:0001293	Cranial nerve compression	-	OMIM:131300
60681	FKBP10	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1149
60681	FKBP10	HP:0001256	Intellectual disability, mild	-	OMIM:259770
60681	FKBP10	HP:0001252	Hypotonia	-	OMIM:259770
60681	FKBP10	HP:0001252	Hypotonia	2/7	OMIM:615777
60681	FKBP10	HP:0001249	Intellectual disability	5/7	OMIM:615777
60681	FKBP10	HP:0001263	Global developmental delay	1/1	OMIM:612394
60681	FKBP10	HP:0001263	Global developmental delay	-	OMIM:615777
60681	FKBP10	HP:0002515	Waddling gait	54/102	OMIM:131300
60681	FKBP10	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1149
60681	FKBP10	HP:0001387	Joint stiffness	HP:0040281	ORPHA:2771
60681	FKBP10	HP:0001382	Joint hypermobility	3/3	OMIM:610968
60681	FKBP10	HP:0001382	Joint hypermobility	-	OMIM:259770
60681	FKBP10	HP:0001382	Joint hypermobility	-	OMIM:259450
60681	FKBP10	HP:0001382	Joint hypermobility	-	OMIM:615777
60681	FKBP10	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
60681	FKBP10	HP:0002694	Sclerosis of skull base	-	OMIM:131300
60681	FKBP10	HP:0008897	Postnatal growth retardation	-	OMIM:615777
60681	FKBP10	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
60681	FKBP10	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
60681	FKBP10	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
60681	FKBP10	HP:0002659	Increased susceptibility to fractures	2/2	OMIM:259450
60681	FKBP10	HP:0002659	Increased susceptibility to fractures	3/3	OMIM:610968
60681	FKBP10	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
60681	FKBP10	HP:0001324	Muscle weakness	40/96	OMIM:131300
60681	FKBP10	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
60681	FKBP10	HP:0000007	Autosomal recessive inheritance	-	OMIM:259450
60681	FKBP10	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
60681	FKBP10	HP:0000007	Autosomal recessive inheritance	-	OMIM:610968
60681	FKBP10	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
60681	FKBP10	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
60681	FKBP10	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
60681	FKBP10	HP:0002650	Scoliosis	1/5	OMIM:259770
60681	FKBP10	HP:0002650	Scoliosis	1/1	OMIM:612394
60681	FKBP10	HP:0002650	Scoliosis	HP:0040282	ORPHA:2771
60681	FKBP10	HP:0002650	Scoliosis	-	OMIM:610968
60681	FKBP10	HP:0002650	Scoliosis	-	OMIM:259450
60681	FKBP10	HP:0002650	Scoliosis	12/14	OMIM:131300
60681	FKBP10	HP:0002650	Scoliosis	HP:0040283	ORPHA:1149
60681	FKBP10	HP:0002645	Wormian bones	HP:0040281	ORPHA:2771
60681	FKBP10	HP:0002645	Wormian bones	3/19	OMIM:610968
60681	FKBP10	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:1149
60681	FKBP10	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
60681	FKBP10	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
60681	FKBP10	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
60681	FKBP10	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
60681	FKBP10	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
60681	FKBP10	HP:0000164	Abnormality of the dentition	0/2	OMIM:259450
60681	FKBP10	HP:0000175	Cleft palate	2/7	OMIM:615777
60681	FKBP10	HP:0002757	Recurrent fractures	4/5	OMIM:259770
60681	FKBP10	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:2771
60681	FKBP10	HP:0002757	Recurrent fractures	19/19	OMIM:610968
60681	FKBP10	HP:0002756	Pathologic fracture	-	OMIM:259770
60681	FKBP10	HP:0002756	Pathologic fracture	1/1	OMIM:612394
60681	FKBP10	HP:0002751	Kyphoscoliosis	3/3	OMIM:610968
60681	FKBP10	HP:0002751	Kyphoscoliosis	-	OMIM:259770
60681	FKBP10	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
60681	FKBP10	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:1149
60681	FKBP10	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:2771
60681	FKBP10	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
60681	FKBP10	HP:0003388	Easy fatigability	36/76	OMIM:131300
60681	FKBP10	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
60681	FKBP10	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
60681	FKBP10	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
60681	FKBP10	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
60681	FKBP10	HP:0002164	Nail dysplasia	1/1	OMIM:612394
60681	FKBP10	HP:0010557	Overlapping fingers	1/2	OMIM:612394
60681	FKBP10	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
60681	FKBP10	HP:0003593	Infantile onset	1/5	OMIM:259770
60681	FKBP10	HP:0003593	Infantile onset	19/19	OMIM:610968
60681	FKBP10	HP:0003577	Congenital onset	4/5	OMIM:259770
60681	FKBP10	HP:0003577	Congenital onset	2/2	OMIM:259450
60681	FKBP10	HP:0002208	Coarse hair	1/1	OMIM:612394
60681	FKBP10	HP:0003510	Severe short stature	7/7	OMIM:615777
60681	FKBP10	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
60681	FKBP10	HP:0025019	Arterial rupture	1/1	OMIM:612394
60681	FKBP10	HP:0001059	Pterygium	HP:0040282	ORPHA:2771
60681	FKBP10	HP:0001059	Pterygium	-	OMIM:259450
60681	FKBP10	HP:0002315	Headache	-	OMIM:131300
60681	FKBP10	HP:0004976	Knee dislocation	6/7	OMIM:615777
60681	FKBP10	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
60681	FKBP10	HP:0009803	Short phalanx of finger	-	OMIM:615777
60681	FKBP10	HP:0001089	Iris atrophy	-	OMIM:259770
60681	FKBP10	HP:0009763	Limb pain	63/92	OMIM:131300
60681	FKBP10	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
60681	FKBP10	HP:0008422	Vertebral wedging	-	OMIM:259450
60681	FKBP10	HP:0008422	Vertebral wedging	19/19	OMIM:610968
60681	FKBP10	HP:0003621	Juvenile onset	-	OMIM:131300
60681	FKBP10	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
60681	FKBP10	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
60681	FKBP10	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
60681	FKBP10	HP:6001056	Out-toeing	-	OMIM:131300
60681	FKBP10	HP:0000651	Diplopia	-	OMIM:131300
60681	FKBP10	HP:0000618	Blindness	5/5	OMIM:259770
60681	FKBP10	HP:0001956	Truncal obesity	2/7	OMIM:615777
60681	FKBP10	HP:0001903	Anemia	HP:0040283	OMIM:131300
60681	FKBP10	HP:0010049	Short metacarpal	-	OMIM:615777
60681	FKBP10	HP:0000678	Dental crowding	-	OMIM:615777
60681	FKBP10	HP:0000670	Carious teeth	-	OMIM:131300
60681	FKBP10	HP:0011304	Broad thumb	2/7	OMIM:615777
60681	FKBP10	HP:0000668	Hypodontia	-	OMIM:615777
60681	FKBP10	HP:0000667	Phthisis bulbi	-	OMIM:259770
60681	FKBP10	HP:0000664	Synophrys	-	OMIM:615777
60681	FKBP10	HP:0004322	Short stature	HP:0040281	ORPHA:2771
60681	FKBP10	HP:0004322	Short stature	-	OMIM:259450
60681	FKBP10	HP:0004322	Short stature	-	OMIM:259770
60681	FKBP10	HP:0004322	Short stature	3/3	OMIM:610968
60681	FKBP10	HP:0004396	Poor appetite	-	OMIM:131300
60681	FKBP10	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
60681	FKBP10	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
60681	FKBP10	HP:0003016	Metaphyseal widening	-	OMIM:259770
60681	FKBP10	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
60681	FKBP10	HP:0003026	Short long bone	7/7	OMIM:615777
60681	FKBP10	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
60681	FKBP10	HP:0000767	Pectus excavatum	2/7	OMIM:615777
60681	FKBP10	HP:0000768	Pectus carinatum	1/7	OMIM:615777
60681	FKBP10	HP:0000768	Pectus carinatum	-	OMIM:259450
60681	FKBP10	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
60681	FKBP10	HP:0000750	Delayed speech and language development	-	OMIM:615777
60681	FKBP10	HP:0000703	Dentinogenesis imperfecta	3/22	OMIM:610968
60681	FKBP10	HP:0011461	Fetal onset	7/7	OMIM:615777
60681	FKBP10	HP:0011461	Fetal onset	2/2	OMIM:612394
60681	FKBP10	HP:0000774	Narrow chest	2/7	OMIM:615777
60681	FKBP10	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
60681	FKBP10	HP:0003196	Short nose	1/1	OMIM:612394
60681	FKBP10	HP:0000926	Platyspondyly	-	OMIM:259770
60681	FKBP10	HP:0000926	Platyspondyly	1/7	OMIM:615777
60681	FKBP10	HP:0000926	Platyspondyly	1/1	OMIM:612394
60681	FKBP10	HP:0000926	Platyspondyly	HP:0040283	ORPHA:2771
60681	FKBP10	HP:0000926	Platyspondyly	-	OMIM:259450
60681	FKBP10	HP:0003179	Protrusio acetabuli	-	OMIM:259450
60681	FKBP10	HP:0003179	Protrusio acetabuli	-	OMIM:610968
60681	FKBP10	HP:0003180	Flat acetabular roof	-	OMIM:615777
60681	FKBP10	HP:0003155	Elevated circulating alkaline phosphatase concentration	2/19	OMIM:610968
60681	FKBP10	HP:0004482	Relative macrocephaly	-	OMIM:615777
60681	FKBP10	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
60681	FKBP10	HP:0000889	Abnormal clavicle morphology	HP:0040283	ORPHA:1149
60681	FKBP10	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
60681	FKBP10	HP:0000823	Delayed puberty	-	OMIM:131300
60681	FKBP10	HP:0000894	Short clavicles	-	OMIM:615777
60681	FKBP10	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
60681	FKBP10	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
60681	FKBP10	HP:0003273	Hip contracture	-	OMIM:259450
60681	FKBP10	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
60681	FKBP10	HP:0004586	Biconcave vertebral bodies	-	OMIM:610968
60681	FKBP10	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:1149
60681	FKBP10	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
60681	FKBP10	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
60681	FKBP10	HP:0000951	Abnormality of the skin	0/19	OMIM:610968
60681	FKBP10	HP:0000939	Osteoporosis	4/5	OMIM:259770
60681	FKBP10	HP:0000939	Osteoporosis	HP:0040281	ORPHA:2771
60681	FKBP10	HP:0000939	Osteoporosis	2/2	OMIM:259450
60681	FKBP10	HP:0000938	Osteopenia	19/19	OMIM:610968
60681	FKBP10	HP:0000938	Osteopenia	1/5	OMIM:259770
60681	FKBP10	HP:0000938	Osteopenia	1/1	OMIM:612394
60681	FKBP10	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
60681	FKBP10	HP:0000286	Epicanthus	1/7	OMIM:615777
60681	FKBP10	HP:0000280	Coarse facial features	2/7	OMIM:615777
60681	FKBP10	HP:0000272	Malar flattening	1/1	OMIM:612394
60681	FKBP10	HP:0006466	Ankle flexion contracture	2/2	OMIM:259450
60681	FKBP10	HP:0007773	Vitreoretinopathy	-	OMIM:259770
60681	FKBP10	HP:0002812	Coxa vara	-	OMIM:259450
60681	FKBP10	HP:0002812	Coxa vara	3/19	OMIM:610968
60681	FKBP10	HP:0002827	Hip dislocation	3/7	OMIM:615777
60681	FKBP10	HP:0002808	Kyphosis	1/5	OMIM:259770
60681	FKBP10	HP:0002808	Kyphosis	-	OMIM:259450
60681	FKBP10	HP:0002808	Kyphosis	HP:0040282	ORPHA:2771
60681	FKBP10	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:2771
60681	FKBP10	HP:0006380	Knee flexion contracture	2/2	OMIM:259450
60681	FKBP10	HP:0000252	Microcephaly	-	OMIM:259770
60681	FKBP10	HP:0000252	Microcephaly	-	OMIM:615777
60681	FKBP10	HP:0000248	Brachycephaly	-	OMIM:610968
60681	FKBP10	HP:0001552	Barrel-shaped chest	-	OMIM:259770
60681	FKBP10	HP:0002857	Genu valgum	-	OMIM:131300
60681	FKBP10	HP:0001533	Slender build	-	OMIM:131300
60681	FKBP10	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
60681	FKBP10	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
60681	FKBP10	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040283	ORPHA:1149
60681	FKBP10	HP:0007807	Optic nerve compression	-	OMIM:131300
60681	FKBP10	HP:0012368	Flat face	7/7	OMIM:615777
60681	FKBP10	HP:0012368	Flat face	1/1	OMIM:612394
60681	FKBP10	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
60681	FKBP10	HP:0007875	Congenital blindness	4/5	OMIM:259770
60681	FKBP10	HP:0007862	Retinal calcification	1/5	OMIM:259770
60681	FKBP10	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
60681	FKBP10	HP:0006498	Aplasia/Hypoplasia of the patella	HP:0040281	ORPHA:1149
60681	FKBP10	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:2771
60681	FKBP10	HP:0000365	Hearing impairment	0/19	OMIM:610968
60681	FKBP10	HP:0000365	Hearing impairment	10/67	OMIM:131300
60681	FKBP10	HP:0000364	Hearing abnormality	0/2	OMIM:259450
60681	FKBP10	HP:0000369	Low-set ears	2/2	OMIM:612394
60681	FKBP10	HP:0000343	Long philtrum	1/7	OMIM:615777
60681	FKBP10	HP:0011001	Increased bone mineral density	-	OMIM:131300
60681	FKBP10	HP:0002982	Tibial bowing	1/5	OMIM:259770
60681	FKBP10	HP:0000311	Round face	2/7	OMIM:615777
60681	FKBP10	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
60681	FKBP10	HP:0002987	Elbow flexion contracture	2/2	OMIM:259450
60681	FKBP10	HP:0000325	Triangular face	-	OMIM:610968
60681	FKBP10	HP:0000325	Triangular face	HP:0040282	ORPHA:2771
60681	FKBP10	HP:0001629	Ventricular septal defect	-	OMIM:259770
60681	FKBP10	HP:0002953	Vertebral compression fracture	-	OMIM:610968
60681	FKBP10	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
60681	FKBP10	HP:0002970	Genu varum	-	OMIM:615777
60681	FKBP10	HP:0000307	Pointed chin	1/2	OMIM:612394
60681	FKBP10	HP:0000303	Mandibular prognathia	-	OMIM:131300
60681	FKBP10	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
60681	FKBP10	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
60681	FKBP10	HP:0000463	Anteverted nares	1/1	OMIM:612394
60681	FKBP10	HP:0000470	Short neck	1/7	OMIM:615777
60681	FKBP10	HP:0001769	Broad foot	HP:0040283	OMIM:615777
60681	FKBP10	HP:0001763	Pes planus	1/7	OMIM:615777
60681	FKBP10	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
60681	FKBP10	HP:0001762	Talipes equinovarus	-	OMIM:259450
60681	FKBP10	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:2771
60681	FKBP10	HP:0000518	Cataract	1/5	OMIM:259770
60681	FKBP10	HP:0000518	Cataract	1/1	OMIM:612394
60681	FKBP10	HP:0001840	Metatarsus adductus	-	OMIM:615777
60681	FKBP10	HP:0000520	Proptosis	2/4	OMIM:131300
60681	FKBP10	HP:0000520	Proptosis	7/7	OMIM:615777
60681	FKBP10	HP:0000592	Blue sclerae	2/7	OMIM:615777
60681	FKBP10	HP:0000592	Blue sclerae	3/3	OMIM:610968
60681	FKBP10	HP:0000591	Abnormal sclera morphology	0/2	OMIM:259450
60681	FKBP10	HP:0000586	Shallow orbits	1/1	OMIM:612394
60681	FKBP10	HP:0000568	Microphthalmia	1/5	OMIM:259770
60681	FKBP10	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
60681	FKBP10	HP:0001883	Talipes	HP:0040282	ORPHA:1149
60681	FKBP10	HP:0012514	Lower limb pain	4/4	OMIM:131300
60681	FKBP10	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
60681	FKBP10	HP:0000545	Myopia	1/1	OMIM:612394
60684	TRAPPC11	HP:0002487	Hyperkinetic movements	-	OMIM:615356
60684	TRAPPC11	HP:0002487	Hyperkinetic movements	HP:0040282	ORPHA:369847
60684	TRAPPC11	HP:0002465	Poor speech	-	OMIM:615356
60684	TRAPPC11	HP:0003701	Proximal muscle weakness	-	OMIM:615356
60684	TRAPPC11	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:369840
60684	TRAPPC11	HP:0001290	Generalized hypotonia	-	OMIM:615356
60684	TRAPPC11	HP:0001272	Cerebellar atrophy	HP:0040283	OMIM:615356
60684	TRAPPC11	HP:0001288	Gait disturbance	-	OMIM:615356
60684	TRAPPC11	HP:0001288	Gait disturbance	HP:0040282	ORPHA:369840
60684	TRAPPC11	HP:0001288	Gait disturbance	HP:0040282	ORPHA:369847
60684	TRAPPC11	HP:0001250	Seizure	HP:0040283	OMIM:615356
60684	TRAPPC11	HP:0001250	Seizure	HP:0040283	ORPHA:369847
60684	TRAPPC11	HP:0001252	Hypotonia	1/8	OMIM:615356
60684	TRAPPC11	HP:0001252	Hypotonia	HP:0040283	ORPHA:869
60684	TRAPPC11	HP:0001251	Ataxia	-	OMIM:615356
60684	TRAPPC11	HP:0001251	Ataxia	HP:0040283	ORPHA:869
60684	TRAPPC11	HP:0001249	Intellectual disability	6/8	OMIM:615356
60684	TRAPPC11	HP:0001249	Intellectual disability	HP:0040283	ORPHA:869
60684	TRAPPC11	HP:0001249	Intellectual disability	HP:0040282	ORPHA:369847
60684	TRAPPC11	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:369840
60684	TRAPPC11	HP:0001260	Dysarthria	-	OMIM:615356
60684	TRAPPC11	HP:0001263	Global developmental delay	-	OMIM:615356
60684	TRAPPC11	HP:0001263	Global developmental delay	HP:0040282	ORPHA:369847
60684	TRAPPC11	HP:0002571	Achalasia	HP:0040283	OMIM:615356
60684	TRAPPC11	HP:0002571	Achalasia	HP:0040281	ORPHA:869
60684	TRAPPC11	HP:0007440	Generalized hyperpigmentation	HP:0040281	ORPHA:869
60684	TRAPPC11	HP:0031078	Impaired cortisol response to corticotropin releasing hormone stimulation test	HP:0040282	ORPHA:869
60684	TRAPPC11	HP:0002540	Inability to walk	-	OMIM:615356
60684	TRAPPC11	HP:0002515	Waddling gait	-	OMIM:615356
60684	TRAPPC11	HP:0002515	Waddling gait	HP:0040282	ORPHA:369840
60684	TRAPPC11	HP:0001397	Hepatic steatosis	HP:0040283	OMIM:615356
60684	TRAPPC11	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:369840
60684	TRAPPC11	HP:0001385	Hip dysplasia	3/8	OMIM:615356
60684	TRAPPC11	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:869
60684	TRAPPC11	HP:0025313	Exophoria	HP:0040283	ORPHA:369840
60684	TRAPPC11	HP:0007556	Plantar hyperkeratosis	HP:0040283	ORPHA:869
60684	TRAPPC11	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:869
60684	TRAPPC11	HP:0001332	Dystonia	-	OMIM:615356
60684	TRAPPC11	HP:0001344	Absent speech	HP:0040282	ORPHA:369840
60684	TRAPPC11	HP:0000007	Autosomal recessive inheritance	-	OMIM:615356
60684	TRAPPC11	HP:0001337	Tremor	-	OMIM:615356
60684	TRAPPC11	HP:0002650	Scoliosis	3/8	OMIM:615356
60684	TRAPPC11	HP:0002650	Scoliosis	HP:0040282	ORPHA:369847
60684	TRAPPC11	HP:0002615	Hypotension	HP:0040282	ORPHA:869
60684	TRAPPC11	HP:0008947	Floppy infant	HP:0040283	ORPHA:369840
60684	TRAPPC11	HP:0008947	Floppy infant	HP:0040283	ORPHA:369847
60684	TRAPPC11	HP:0003326	Myalgia	3/8	OMIM:615356
60684	TRAPPC11	HP:0003326	Myalgia	HP:0040282	ORPHA:369840
60684	TRAPPC11	HP:0003326	Myalgia	HP:0040282	ORPHA:369847
60684	TRAPPC11	HP:0002013	Vomiting	HP:0040282	ORPHA:869
60684	TRAPPC11	HP:0003307	Hyperlordosis	-	OMIM:615356
60684	TRAPPC11	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:369840
60684	TRAPPC11	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:869
60684	TRAPPC11	HP:0002091	Restrictive ventilatory defect	-	ORPHA:369840
60684	TRAPPC11	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:369847
60684	TRAPPC11	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:369840
60684	TRAPPC11	HP:0003394	Muscle spasm	2/8	OMIM:615356
60684	TRAPPC11	HP:0003394	Muscle spasm	HP:0040282	ORPHA:369840
60684	TRAPPC11	HP:0003391	Gowers sign	-	OMIM:615356
60684	TRAPPC11	HP:0002078	Truncal ataxia	5/8	OMIM:615356
60684	TRAPPC11	HP:0002078	Truncal ataxia	HP:0040283	ORPHA:369840
60684	TRAPPC11	HP:0002078	Truncal ataxia	HP:0040282	ORPHA:369847
60684	TRAPPC11	HP:0002072	Chorea	5/8	OMIM:615356
60684	TRAPPC11	HP:0002072	Chorea	HP:0040283	ORPHA:369840
60684	TRAPPC11	HP:0002072	Chorea	HP:0040282	ORPHA:369847
60684	TRAPPC11	HP:0002059	Cerebral atrophy	2/5	OMIM:615356
60684	TRAPPC11	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:369847
60684	TRAPPC11	HP:0010486	Abnormality of the hypothenar eminence	HP:0040283	ORPHA:869
60684	TRAPPC11	HP:0008163	Decreased circulating cortisol level	HP:0040282	ORPHA:869
60684	TRAPPC11	HP:0003429	CNS hypomyelination	HP:0040283	OMIM:615356
60684	TRAPPC11	HP:0002173	Hypoglycemic seizures	HP:0040282	ORPHA:869
60684	TRAPPC11	HP:0002240	Hepatomegaly	HP:0040283	OMIM:615356
60684	TRAPPC11	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:369840
60684	TRAPPC11	HP:0003560	Muscular dystrophy	HP:0040282	ORPHA:369840
60684	TRAPPC11	HP:0007002	Motor axonal neuropathy	HP:0040283	ORPHA:869
60684	TRAPPC11	HP:0011968	Feeding difficulties	-	OMIM:615356
60684	TRAPPC11	HP:0002376	Developmental regression	HP:0040283	ORPHA:869
60684	TRAPPC11	HP:0002353	EEG abnormality	HP:0040284	OMIM:615356
60684	TRAPPC11	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:869
60684	TRAPPC11	HP:0100633	Esophagitis	HP:0040284	OMIM:615356
60684	TRAPPC11	HP:0002305	Athetosis	-	OMIM:615356
60684	TRAPPC11	HP:0009073	Progressive proximal muscle weakness	HP:0040282	ORPHA:369847
60684	TRAPPC11	HP:0006889	Intellectual disability, borderline	HP:0040282	ORPHA:369840
60684	TRAPPC11	HP:0000648	Optic atrophy	HP:0040283	ORPHA:869
60684	TRAPPC11	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:869
60684	TRAPPC11	HP:0009020	Exercise-induced muscle fatigue	HP:0040282	ORPHA:369847
60684	TRAPPC11	HP:0004322	Short stature	-	OMIM:615356
60684	TRAPPC11	HP:0004322	Short stature	HP:0040282	ORPHA:869
60684	TRAPPC11	HP:0004319	Decreased circulating aldosterone concentration	HP:0040284	ORPHA:869
60684	TRAPPC11	HP:0012735	Cough	HP:0040282	ORPHA:869
60684	TRAPPC11	HP:0011463	Childhood onset	3/3	OMIM:615356
60684	TRAPPC11	HP:0012762	Cerebral white matter atrophy	HP:0040282	ORPHA:369840
60684	TRAPPC11	HP:0003198	Myopathy	HP:0040282	ORPHA:369840
60684	TRAPPC11	HP:0003198	Myopathy	HP:0040282	ORPHA:369847
60684	TRAPPC11	HP:0003154	Increased circulating ACTH level	HP:0040282	ORPHA:869
60684	TRAPPC11	HP:0000846	Adrenal insufficiency	HP:0040281	ORPHA:869
60684	TRAPPC11	HP:0012804	Corneal ulceration	HP:0040283	ORPHA:869
60684	TRAPPC11	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040282	ORPHA:369840
60684	TRAPPC11	HP:0003236	Elevated circulating creatine kinase concentration	8/8	OMIM:615356
60684	TRAPPC11	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:869
60684	TRAPPC11	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:369840
60684	TRAPPC11	HP:0005133	Right ventricular dilatation	-	ORPHA:369840
60684	TRAPPC11	HP:0005133	Right ventricular dilatation	HP:0040283	ORPHA:369847
60684	TRAPPC11	HP:0000252	Microcephaly	4/8	OMIM:615356
60684	TRAPPC11	HP:0000252	Microcephaly	HP:0040283	ORPHA:869
60684	TRAPPC11	HP:0000252	Microcephaly	HP:0040283	ORPHA:369840
60684	TRAPPC11	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:869
60684	TRAPPC11	HP:0001511	Intrauterine growth retardation	-	OMIM:615356
60684	TRAPPC11	HP:0011098	Speech apraxia	-	OMIM:615356
60684	TRAPPC11	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:869
60684	TRAPPC11	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	OMIM:615356
60684	TRAPPC11	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:369840
60684	TRAPPC11	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:869
60684	TRAPPC11	HP:0000486	Strabismus	-	OMIM:615356
60684	TRAPPC11	HP:0000486	Strabismus	HP:0040283	ORPHA:369847
60684	TRAPPC11	HP:0001761	Pes cavus	HP:0040283	ORPHA:869
60684	TRAPPC11	HP:0006785	Limb-girdle muscular dystrophy	HP:0040282	ORPHA:369840
60684	TRAPPC11	HP:0006785	Limb-girdle muscular dystrophy	HP:0040282	ORPHA:369847
60684	TRAPPC11	HP:0006785	Limb-girdle muscular dystrophy	8/8	OMIM:615356
60684	TRAPPC11	HP:0000518	Cataract	1/8	OMIM:615356
60684	TRAPPC11	HP:0000518	Cataract	HP:0040282	ORPHA:369840
60684	TRAPPC11	HP:0000518	Cataract	HP:0040282	ORPHA:369847
60684	TRAPPC11	HP:0000522	Alacrima	HP:0040283	OMIM:615356
60684	TRAPPC11	HP:0000522	Alacrima	HP:0040281	ORPHA:869
60684	TRAPPC11	HP:0001824	Weight loss	HP:0040282	ORPHA:869
60684	TRAPPC11	HP:0000505	Visual impairment	HP:0040283	ORPHA:869
60684	TRAPPC11	HP:0000545	Myopia	2/8	OMIM:615356
60684	TRAPPC11	HP:0000545	Myopia	HP:0040283	ORPHA:369847
63035	BCORL1	HP:0001182	Tapered finger	-	OMIM:301029
63035	BCORL1	HP:0010864	Intellectual disability, severe	2/2	OMIM:301029
63035	BCORL1	HP:0100807	Long fingers	3/5	OMIM:301029
63035	BCORL1	HP:0001272	Cerebellar atrophy	1/3	OMIM:301029
63035	BCORL1	HP:0001250	Seizure	3/7	OMIM:301029
63035	BCORL1	HP:0001252	Hypotonia	4/7	OMIM:301029
63035	BCORL1	HP:0001263	Global developmental delay	5/5	OMIM:301029
63035	BCORL1	HP:0001419	X-linked recessive inheritance	-	OMIM:301029
63035	BCORL1	HP:0002136	Broad-based gait	1/5	OMIM:301029
63035	BCORL1	HP:0002194	Delayed gross motor development	4/5	OMIM:301029
63035	BCORL1	HP:0003593	Infantile onset	5/5	OMIM:301029
63035	BCORL1	HP:0100710	Impulsivity	2/5	OMIM:301029
63035	BCORL1	HP:0007018	Attention deficit hyperactivity disorder	2/5	OMIM:301029
63035	BCORL1	HP:0002307	Drooling	2/5	OMIM:301029
63035	BCORL1	HP:0000767	Pectus excavatum	1/5	OMIM:301029
63035	BCORL1	HP:0000733	Motor stereotypy	2/5	OMIM:301029
63035	BCORL1	HP:0000750	Delayed speech and language development	3/4	OMIM:301029
63035	BCORL1	HP:0000718	Aggressive behavior	2/5	OMIM:301029
63035	BCORL1	HP:0000729	Autistic behavior	5/5	OMIM:301029
63035	BCORL1	HP:0012810	Wide nasal base	1/5	OMIM:301029
63035	BCORL1	HP:0008070	Sparse hair	2/5	OMIM:301029
63035	BCORL1	HP:0000280	Coarse facial features	2/2	OMIM:301029
63035	BCORL1	HP:0000276	Long face	1/5	OMIM:301029
63035	BCORL1	HP:0000348	High forehead	4/5	OMIM:301029
63035	BCORL1	HP:0000316	Hypertelorism	2/5	OMIM:301029
63035	BCORL1	HP:0000486	Strabismus	1/5	OMIM:301029
63035	BCORL1	HP:0000494	Downslanted palpebral fissures	2/5	OMIM:301029
63035	BCORL1	HP:0000577	Exotropia	1/5	OMIM:301029
63036	CELA2A	HP:0000006	Autosomal dominant inheritance	-	OMIM:618620
63036	CELA2A	HP:0005978	Type II diabetes mellitus	-	OMIM:618620
63036	CELA2A	HP:0002155	Hypertriglyceridemia	10/17	OMIM:618620
63036	CELA2A	HP:0004943	Accelerated atherosclerosis	-	OMIM:618620
63036	CELA2A	HP:0003141	Increased LDL cholesterol concentration	5/16	OMIM:618620
63036	CELA2A	HP:0000822	Hypertension	26/35	OMIM:618620
63036	CELA2A	HP:0003233	Decreased HDL cholesterol concentration	9/17	OMIM:618620
63036	CELA2A	HP:0040217	Elevated hemoglobin A1c	7/17	OMIM:618620
63036	CELA2A	HP:0001513	Obesity	-	OMIM:618620
63036	CELA2A	HP:0001677	Coronary artery atherosclerosis	-	OMIM:618620
63036	CELA2A	HP:0001658	Myocardial infarction	13/36	OMIM:618620
63894	VIPAS39	HP:0001290	Generalized hypotonia	-	OMIM:613404
63894	VIPAS39	HP:0001252	Hypotonia	-	OMIM:613404
63894	VIPAS39	HP:0001252	Hypotonia	HP:0040283	ORPHA:2697
63894	VIPAS39	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2697
63894	VIPAS39	HP:0001263	Global developmental delay	-	OMIM:613404
63894	VIPAS39	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040282	ORPHA:2697
63894	VIPAS39	HP:0000093	Proteinuria	1/1	OMIM:613404
63894	VIPAS39	HP:0001385	Hip dysplasia	-	OMIM:613404
63894	VIPAS39	HP:0008780	Congenital bilateral hip dislocation	HP:0040282	ORPHA:2697
63894	VIPAS39	HP:0001339	Lissencephaly	HP:0040283	OMIM:613404
63894	VIPAS39	HP:0000007	Autosomal recessive inheritance	-	OMIM:613404
63894	VIPAS39	HP:0002611	Cholestatic liver disease	1/1	OMIM:613404
63894	VIPAS39	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:2697
63894	VIPAS39	HP:0000121	Nephrocalcinosis	-	OMIM:613404
63894	VIPAS39	HP:0000124	Renal tubular dysfunction	HP:0040282	ORPHA:2697
63894	VIPAS39	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:2697
63894	VIPAS39	HP:0000112	Nephropathy	-	OMIM:613404
63894	VIPAS39	HP:0002719	Recurrent infections	HP:0040282	ORPHA:2697
63894	VIPAS39	HP:0003355	Aminoaciduria	1/1	OMIM:613404
63894	VIPAS39	HP:0002028	Chronic diarrhea	HP:0040282	ORPHA:2697
63894	VIPAS39	HP:0030948	Elevated gamma-glutamyltransferase level	-	ORPHA:2697
63894	VIPAS39	HP:0011873	Abnormal platelet count	HP:0040282	ORPHA:2697
63894	VIPAS39	HP:0002240	Hepatomegaly	1/1	OMIM:613404
63894	VIPAS39	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:2697
63894	VIPAS39	HP:0200084	Giant cell hepatitis	-	OMIM:613404
63894	VIPAS39	HP:0009806	Nephrogenic diabetes insipidus	HP:0040283	OMIM:613404
63894	VIPAS39	HP:0009806	Nephrogenic diabetes insipidus	HP:0040283	ORPHA:2697
63894	VIPAS39	HP:0003623	Neonatal onset	1/1	OMIM:613404
63894	VIPAS39	HP:0001947	Renal tubular acidosis	-	OMIM:613404
63894	VIPAS39	HP:0001942	Metabolic acidosis	1/1	OMIM:613404
63894	VIPAS39	HP:0001994	Renal Fanconi syndrome	HP:0040282	ORPHA:2697
63894	VIPAS39	HP:0003076	Glycosuria	1/1	OMIM:613404
63894	VIPAS39	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:2697
63894	VIPAS39	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:2697
63894	VIPAS39	HP:0000973	Cutis laxa	HP:0040283	ORPHA:2697
63894	VIPAS39	HP:0000989	Pruritus	1/1	OMIM:613404
63894	VIPAS39	HP:0000952	Jaundice	-	OMIM:613404
63894	VIPAS39	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:2697
63894	VIPAS39	HP:0000938	Osteopenia	HP:0040283	ORPHA:2697
63894	VIPAS39	HP:0008064	Ichthyosis	HP:0040282	ORPHA:2697
63894	VIPAS39	HP:0008064	Ichthyosis	-	OMIM:613404
63894	VIPAS39	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:2697
63894	VIPAS39	HP:0002804	Arthrogryposis multiplex congenita	1/1	OMIM:613404
63894	VIPAS39	HP:0000252	Microcephaly	-	OMIM:613404
63894	VIPAS39	HP:0000252	Microcephaly	HP:0040283	ORPHA:2697
63894	VIPAS39	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:2697
63894	VIPAS39	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:2697
63894	VIPAS39	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:2697
63894	VIPAS39	HP:0001522	Death in infancy	1/1	OMIM:613404
63894	VIPAS39	HP:0001508	Failure to thrive	-	OMIM:613404
63894	VIPAS39	HP:0005248	Intrahepatic biliary atresia	HP:0040283	ORPHA:2697
63894	VIPAS39	HP:0006566	Neonatal cholestatic liver disease	HP:0040282	ORPHA:2697
63894	VIPAS39	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:613404
63894	VIPAS39	HP:0002908	Conjugated hyperbilirubinemia	HP:0040282	ORPHA:2697
63894	VIPAS39	HP:0002908	Conjugated hyperbilirubinemia	-	OMIM:613404
63894	VIPAS39	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2697
63894	VIPAS39	HP:0000369	Low-set ears	-	OMIM:613404
63894	VIPAS39	HP:0000369	Low-set ears	HP:0040283	ORPHA:2697
63894	VIPAS39	HP:0000340	Sloping forehead	-	OMIM:613404
63894	VIPAS39	HP:0001667	Right ventricular hypertrophy	-	OMIM:613404
63894	VIPAS39	HP:0001629	Ventricular septal defect	-	OMIM:613404
63894	VIPAS39	HP:0012483	Abnormal alpha granules	HP:0040282	ORPHA:2697
63894	VIPAS39	HP:0030402	Abnormal platelet aggregation	HP:0040282	ORPHA:2697
63894	VIPAS39	HP:0001884	Talipes calcaneovalgus	-	OMIM:613404
63895	PIEZO2	HP:0001156	Brachydactyly	-	OMIM:143095
63895	PIEZO2	HP:0001166	Arachnodactyly	4/10	OMIM:617146
63895	PIEZO2	HP:0001166	Arachnodactyly	-	OMIM:108145
63895	PIEZO2	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:1154
63895	PIEZO2	HP:0001166	Arachnodactyly	-	OMIM:248700
63895	PIEZO2	HP:0001166	Arachnodactyly	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0002476	Primitive reflex	-	OMIM:248700
63895	PIEZO2	HP:0001119	Keratoglobus	-	OMIM:108145
63895	PIEZO2	HP:0010935	Abnormality of the upper urinary tract	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	-	OMIM:114300
63895	PIEZO2	HP:0009921	Duane anomaly	1/1	OMIM:108145
63895	PIEZO2	HP:0010871	Sensory ataxia	-	OMIM:617146
63895	PIEZO2	HP:0009882	Short distal phalanx of finger	-	OMIM:143095
63895	PIEZO2	HP:0008551	Microtia	-	OMIM:143095
63895	PIEZO2	HP:0002421	Poor head control	-	OMIM:617146
63895	PIEZO2	HP:0003725	Firm muscles	-	OMIM:108145
63895	PIEZO2	HP:0001290	Generalized hypotonia	-	OMIM:617146
63895	PIEZO2	HP:0001290	Generalized hypotonia	-	OMIM:248700
63895	PIEZO2	HP:0001276	Hypertonia	2/3	OMIM:108145
63895	PIEZO2	HP:0001274	Agenesis of corpus callosum	-	OMIM:248700
63895	PIEZO2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0001270	Motor delay	10/10	OMIM:617146
63895	PIEZO2	HP:0001284	Areflexia	9/9	OMIM:617146
63895	PIEZO2	HP:0001256	Intellectual disability, mild	2/15	OMIM:114300
63895	PIEZO2	HP:0001250	Seizure	-	OMIM:248700
63895	PIEZO2	HP:0001252	Hypotonia	-	OMIM:248700
63895	PIEZO2	HP:0001252	Hypotonia	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0001249	Intellectual disability	0/3	OMIM:108145
63895	PIEZO2	HP:0001249	Intellectual disability	1/1	OMIM:248700
63895	PIEZO2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0001249	Intellectual disability	0/9	OMIM:143095
63895	PIEZO2	HP:0001249	Intellectual disability	3/20	OMIM:150250
63895	PIEZO2	HP:0001265	Hyporeflexia	3/3	OMIM:108145
63895	PIEZO2	HP:0001260	Dysarthria	7/7	OMIM:617146
63895	PIEZO2	HP:0001263	Global developmental delay	HP:0040284	OMIM:114300
63895	PIEZO2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0001263	Global developmental delay	3/9	OMIM:617146
63895	PIEZO2	HP:0006109	Absent phalangeal crease	-	OMIM:108145
63895	PIEZO2	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:376
63895	PIEZO2	HP:0100864	Short femoral neck	-	OMIM:143095
63895	PIEZO2	HP:0006067	Multiple carpal ossification centers	-	OMIM:143095
63895	PIEZO2	HP:0006067	Multiple carpal ossification centers	-	OMIM:150250
63895	PIEZO2	HP:0007340	Lower limb muscle weakness	8/9	OMIM:617146
63895	PIEZO2	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0002540	Inability to walk	-	OMIM:617146
63895	PIEZO2	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:143095
63895	PIEZO2	HP:0003883	Tapered humerus	3/16	OMIM:150250
63895	PIEZO2	HP:0001222	Spatulate thumbs	17/18	OMIM:150250
63895	PIEZO2	HP:0002515	Waddling gait	-	OMIM:143095
63895	PIEZO2	HP:0003834	Shoulder dislocation	-	OMIM:143095
63895	PIEZO2	HP:0032342	Reduced forced expiratory volume in one second	2/2	OMIM:108145
63895	PIEZO2	HP:0000089	Renal hypoplasia	-	OMIM:248700
63895	PIEZO2	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0000072	Hydroureter	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0001374	Congenital hip dislocation	-	OMIM:114300
63895	PIEZO2	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:376
63895	PIEZO2	HP:0001371	Flexion contracture	-	OMIM:143095
63895	PIEZO2	HP:0001371	Flexion contracture	-	OMIM:617146
63895	PIEZO2	HP:0001373	Joint dislocation	-	OMIM:143095
63895	PIEZO2	HP:0000036	Abnormal penis morphology	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0000039	Epispadias	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0000054	Micropenis	-	OMIM:248700
63895	PIEZO2	HP:0001385	Hip dysplasia	-	OMIM:617146
63895	PIEZO2	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1154
63895	PIEZO2	HP:0001387	Joint stiffness	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0001382	Joint hypermobility	-	OMIM:150250
63895	PIEZO2	HP:0000047	Hypospadias	-	OMIM:248700
63895	PIEZO2	HP:0000047	Hypospadias	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:1154
63895	PIEZO2	HP:0000023	Inguinal hernia	-	OMIM:248700
63895	PIEZO2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:376
63895	PIEZO2	HP:0000028	Cryptorchidism	-	OMIM:114300
63895	PIEZO2	HP:0000028	Cryptorchidism	-	OMIM:248700
63895	PIEZO2	HP:0000028	Cryptorchidism	-	OMIM:150250
63895	PIEZO2	HP:0008897	Postnatal growth retardation	-	OMIM:248700
63895	PIEZO2	HP:0008872	Feeding difficulties in infancy	2/11	OMIM:617146
63895	PIEZO2	HP:0006184	Decreased palmar creases	3/3	OMIM:108145
63895	PIEZO2	HP:0003994	Dislocated wrist	-	OMIM:150250
63895	PIEZO2	HP:0001331	Absent septum pellucidum	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0001328	Specific learning disability	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:143095
63895	PIEZO2	HP:0000007	Autosomal recessive inheritance	-	OMIM:143095
63895	PIEZO2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617146
63895	PIEZO2	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0000006	Autosomal dominant inheritance	-	OMIM:114300
63895	PIEZO2	HP:0000006	Autosomal dominant inheritance	-	OMIM:248700
63895	PIEZO2	HP:0000006	Autosomal dominant inheritance	-	OMIM:150250
63895	PIEZO2	HP:0000006	Autosomal dominant inheritance	-	OMIM:108145
63895	PIEZO2	HP:0001305	Dandy-Walker malformation	1/1	OMIM:248700
63895	PIEZO2	HP:0002650	Scoliosis	HP:0040283	ORPHA:376
63895	PIEZO2	HP:0002650	Scoliosis	1/2	OMIM:108145
63895	PIEZO2	HP:0002650	Scoliosis	9/9	OMIM:143095
63895	PIEZO2	HP:0002650	Scoliosis	6/15	OMIM:114300
63895	PIEZO2	HP:0002650	Scoliosis	10/10	OMIM:617146
63895	PIEZO2	HP:0002650	Scoliosis	1/1	OMIM:248700
63895	PIEZO2	HP:0002650	Scoliosis	12/20	OMIM:150250
63895	PIEZO2	HP:0002650	Scoliosis	HP:0040282	ORPHA:2461
63895	PIEZO2	HP:0001321	Cerebellar hypoplasia	-	OMIM:248700
63895	PIEZO2	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0001319	Neonatal hypotonia	8/8	OMIM:617146
63895	PIEZO2	HP:0008905	Rhizomelia	-	OMIM:143095
63895	PIEZO2	HP:0000193	Bifid uvula	-	OMIM:114300
63895	PIEZO2	HP:0000193	Bifid uvula	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0000160	Narrow mouth	-	OMIM:248700
63895	PIEZO2	HP:0000160	Narrow mouth	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0000176	Submucous cleft hard palate	-	OMIM:114300
63895	PIEZO2	HP:0000176	Submucous cleft hard palate	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0000175	Cleft palate	-	OMIM:114300
63895	PIEZO2	HP:0000175	Cleft palate	HP:0040283	ORPHA:376
63895	PIEZO2	HP:0000175	Cleft palate	1/1	OMIM:248700
63895	PIEZO2	HP:0000175	Cleft palate	3/20	OMIM:150250
63895	PIEZO2	HP:0000175	Cleft palate	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0005001	Recurrent patellar dislocation	1/2	OMIM:108145
63895	PIEZO2	HP:0002705	High, narrow palate	-	OMIM:248700
63895	PIEZO2	HP:0007598	Bilateral single transverse palmar creases	-	OMIM:143095
63895	PIEZO2	HP:0006251	Limited wrist extension	3/3	OMIM:108145
63895	PIEZO2	HP:0002780	Bronchomalacia	-	OMIM:150250
63895	PIEZO2	HP:0002779	Tracheomalacia	-	OMIM:150250
63895	PIEZO2	HP:0002777	Tracheal stenosis	-	OMIM:150250
63895	PIEZO2	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0000110	Renal dysplasia	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0000104	Renal agenesis	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0002751	Kyphoscoliosis	-	OMIM:143095
63895	PIEZO2	HP:0002751	Kyphoscoliosis	-	OMIM:114300
63895	PIEZO2	HP:0002750	Delayed skeletal maturation	-	OMIM:143095
63895	PIEZO2	HP:0002021	Pyloric stenosis	-	OMIM:248700
63895	PIEZO2	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0002020	Gastroesophageal reflux	2/11	OMIM:617146
63895	PIEZO2	HP:0004673	Decreased facial expression	6/6	OMIM:108145
63895	PIEZO2	HP:0002007	Frontal bossing	-	OMIM:150250
63895	PIEZO2	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0003304	Spondylolysis	-	OMIM:150250
63895	PIEZO2	HP:0003301	Irregular vertebral endplates	-	OMIM:143095
63895	PIEZO2	HP:0011800	Midface retrusion	19/20	OMIM:150250
63895	PIEZO2	HP:0002089	Pulmonary hypoplasia	-	OMIM:248700
63895	PIEZO2	HP:0002092	Pulmonary arterial hypertension	-	OMIM:143095
63895	PIEZO2	HP:0002093	Respiratory insufficiency	6/6	OMIM:617146
63895	PIEZO2	HP:0002091	Restrictive ventilatory defect	3/3	OMIM:108145
63895	PIEZO2	HP:0003390	Sensory axonal neuropathy	-	OMIM:617146
63895	PIEZO2	HP:0002044	Zollinger-Ellison syndrome	-	OMIM:248700
63895	PIEZO2	HP:0002058	Myopathic facies	-	OMIM:617146
63895	PIEZO2	HP:0010446	Tricuspid stenosis	-	OMIM:143095
63895	PIEZO2	HP:0008127	Bipartite calcaneus	-	OMIM:150250
63895	PIEZO2	HP:0010489	Absent palmar crease	HP:0040282	ORPHA:1154
63895	PIEZO2	HP:0009473	Joint contracture of the hand	-	OMIM:248700
63895	PIEZO2	HP:0003484	Upper limb muscle weakness	5/8	OMIM:617146
63895	PIEZO2	HP:0002136	Broad-based gait	-	OMIM:617146
63895	PIEZO2	HP:0003417	Coronal cleft vertebrae	-	OMIM:143095
63895	PIEZO2	HP:0002194	Delayed gross motor development	-	OMIM:143095
63895	PIEZO2	HP:0002176	Spinal cord compression	-	OMIM:150250
63895	PIEZO2	HP:0100490	Camptodactyly of finger	-	OMIM:143095
63895	PIEZO2	HP:0100490	Camptodactyly of finger	-	OMIM:114300
63895	PIEZO2	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:376
63895	PIEZO2	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:2461
63895	PIEZO2	HP:0010554	Cutaneous finger syndactyly	-	OMIM:114300
63895	PIEZO2	HP:0010585	Small epiphyses	9/9	OMIM:143095
63895	PIEZO2	HP:0003593	Infantile onset	9/9	OMIM:143095
63895	PIEZO2	HP:0003577	Congenital onset	3/3	OMIM:108145
63895	PIEZO2	HP:0003577	Congenital onset	6/6	OMIM:143095
63895	PIEZO2	HP:0003577	Congenital onset	1/1	OMIM:248700
63895	PIEZO2	HP:0003546	Exercise intolerance	2/2	OMIM:108145
63895	PIEZO2	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0007010	Poor fine motor coordination	-	OMIM:617146
63895	PIEZO2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:2461
63895	PIEZO2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0003510	Severe short stature	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0007099	Chiari type I malformation	3/12	OMIM:114300
63895	PIEZO2	HP:0007068	Inferior cerebellar vermis hypoplasia	-	OMIM:248700
63895	PIEZO2	HP:0002365	Hypoplasia of the brainstem	-	OMIM:248700
63895	PIEZO2	HP:0003676	Progressive	-	OMIM:617146
63895	PIEZO2	HP:0004976	Knee dislocation	16/20	OMIM:150250
63895	PIEZO2	HP:0004976	Knee dislocation	6/6	OMIM:143095
63895	PIEZO2	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0200021	Down-sloping shoulders	20/20	OMIM:114300
63895	PIEZO2	HP:0009803	Short phalanx of finger	-	OMIM:114300
63895	PIEZO2	HP:0009803	Short phalanx of finger	-	OMIM:143095
63895	PIEZO2	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:143095
63895	PIEZO2	HP:0010751	Dimple chin	HP:0040281	ORPHA:1154
63895	PIEZO2	HP:0010743	Short metatarsal	-	OMIM:150250
63895	PIEZO2	HP:0008434	Hypoplastic cervical vertebrae	-	OMIM:150250
63895	PIEZO2	HP:0004942	Aortic aneurysm	-	OMIM:150250
63895	PIEZO2	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:376
63895	PIEZO2	HP:0004232	Accessory carpal bones	-	OMIM:150250
63895	PIEZO2	HP:0000648	Optic atrophy	HP:0040282	ORPHA:1154
63895	PIEZO2	HP:0000602	Ophthalmoplegia	2/14	OMIM:114300
63895	PIEZO2	HP:0000602	Ophthalmoplegia	3/3	OMIM:108145
63895	PIEZO2	HP:0000602	Ophthalmoplegia	HP:0040281	ORPHA:1154
63895	PIEZO2	HP:0010049	Short metacarpal	-	OMIM:143095
63895	PIEZO2	HP:0010049	Short metacarpal	-	OMIM:150250
63895	PIEZO2	HP:0000684	Delayed eruption of teeth	-	OMIM:143095
63895	PIEZO2	HP:0000691	Microdontia	-	OMIM:143095
63895	PIEZO2	HP:0000687	Widely spaced teeth	-	OMIM:143095
63895	PIEZO2	HP:0000668	Hypodontia	-	OMIM:150250
63895	PIEZO2	HP:0004322	Short stature	HP:0040283	ORPHA:376
63895	PIEZO2	HP:0004322	Short stature	3/3	OMIM:108145
63895	PIEZO2	HP:0004322	Short stature	9/11	OMIM:114300
63895	PIEZO2	HP:0004322	Short stature	15/15	OMIM:143095
63895	PIEZO2	HP:0004322	Short stature	8/9	OMIM:617146
63895	PIEZO2	HP:0004322	Short stature	14/20	OMIM:150250
63895	PIEZO2	HP:0004307	Abnormal anatomic location of the heart	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0003071	Flattened epiphysis	-	OMIM:143095
63895	PIEZO2	HP:0003083	Dislocated radial head	6/6	OMIM:143095
63895	PIEZO2	HP:0003031	Ulnar bowing	-	OMIM:143095
63895	PIEZO2	HP:0003042	Elbow dislocation	-	OMIM:143095
63895	PIEZO2	HP:0003042	Elbow dislocation	13/20	OMIM:150250
63895	PIEZO2	HP:0003040	Arthropathy	-	OMIM:143095
63895	PIEZO2	HP:0031936	Delayed ability to walk	-	OMIM:617146
63895	PIEZO2	HP:0003022	Hypoplasia of the ulna	-	OMIM:143095
63895	PIEZO2	HP:0005684	Distal arthrogryposis	-	OMIM:114300
63895	PIEZO2	HP:0005684	Distal arthrogryposis	3/3	OMIM:108145
63895	PIEZO2	HP:0012745	Short palpebral fissure	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0000767	Pectus excavatum	-	OMIM:114300
63895	PIEZO2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:376
63895	PIEZO2	HP:0000767	Pectus excavatum	-	OMIM:108145
63895	PIEZO2	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:1154
63895	PIEZO2	HP:0000767	Pectus excavatum	-	OMIM:150250
63895	PIEZO2	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:2461
63895	PIEZO2	HP:0000766	Abnormal sternum morphology	-	OMIM:248700
63895	PIEZO2	HP:0000768	Pectus carinatum	-	OMIM:150250
63895	PIEZO2	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:2461
63895	PIEZO2	HP:0009179	Deviation of the 5th finger	-	OMIM:143095
63895	PIEZO2	HP:0003199	Decreased muscle mass	-	OMIM:114300
63895	PIEZO2	HP:0003199	Decreased muscle mass	-	OMIM:108145
63895	PIEZO2	HP:0003199	Decreased muscle mass	HP:0040282	ORPHA:376
63895	PIEZO2	HP:0003199	Decreased muscle mass	-	OMIM:248700
63895	PIEZO2	HP:0000914	Shield chest	-	OMIM:143095
63895	PIEZO2	HP:0003189	Long nose	-	OMIM:617146
63895	PIEZO2	HP:0003184	Decreased hip abduction	-	OMIM:143095
63895	PIEZO2	HP:0003184	Decreased hip abduction	-	OMIM:114300
63895	PIEZO2	HP:0003093	Limited hip extension	9/9	OMIM:143095
63895	PIEZO2	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:143095
63895	PIEZO2	HP:0003236	Elevated circulating creatine kinase concentration	1/5	OMIM:617146
63895	PIEZO2	HP:0004568	Beaking of vertebral bodies	-	OMIM:150250
63895	PIEZO2	HP:0005879	Congenital finger flexion contractures	HP:0040282	ORPHA:1154
63895	PIEZO2	HP:0005879	Congenital finger flexion contractures	3/3	OMIM:108145
63895	PIEZO2	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0003298	Spina bifida occulta	-	OMIM:150250
63895	PIEZO2	HP:0045075	Sparse eyebrow	-	OMIM:143095
63895	PIEZO2	HP:0000954	Single transverse palmar crease	-	OMIM:114300
63895	PIEZO2	HP:0008052	Retinal fold	1/2	OMIM:108145
63895	PIEZO2	HP:0007703	Abnormality of retinal pigmentation	-	OMIM:108145
63895	PIEZO2	HP:6000970	Diminished sulfotransferase activity in cultured fibroblasts	2/2	OMIM:143095
63895	PIEZO2	HP:0000286	Epicanthus	-	OMIM:108145
63895	PIEZO2	HP:0000286	Epicanthus	-	OMIM:114300
63895	PIEZO2	HP:0000286	Epicanthus	-	OMIM:248700
63895	PIEZO2	HP:0000278	Retrognathia	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0000298	Mask-like facies	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0000260	Wide anterior fontanel	-	OMIM:248700
63895	PIEZO2	HP:0000272	Malar flattening	-	OMIM:150250
63895	PIEZO2	HP:0006471	Fixed elbow flexion	-	OMIM:143095
63895	PIEZO2	HP:0006462	Generalized bone demineralization	-	OMIM:143095
63895	PIEZO2	HP:0002816	Genu recurvatum	3/6	OMIM:143095
63895	PIEZO2	HP:0002829	Arthralgia	-	OMIM:143095
63895	PIEZO2	HP:0002827	Hip dislocation	16/20	OMIM:150250
63895	PIEZO2	HP:0030084	Clinodactyly	-	OMIM:108145
63895	PIEZO2	HP:0002808	Kyphosis	-	OMIM:143095
63895	PIEZO2	HP:0002808	Kyphosis	3/3	OMIM:108145
63895	PIEZO2	HP:0002808	Kyphosis	-	OMIM:248700
63895	PIEZO2	HP:0002808	Kyphosis	HP:0040282	ORPHA:2461
63895	PIEZO2	HP:0002803	Congenital contracture	-	OMIM:248700
63895	PIEZO2	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:114300
63895	PIEZO2	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0006380	Knee flexion contracture	-	OMIM:114300
63895	PIEZO2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0000252	Microcephaly	-	OMIM:248700
63895	PIEZO2	HP:0000252	Microcephaly	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0001552	Barrel-shaped chest	-	OMIM:143095
63895	PIEZO2	HP:0000219	Thin upper lip vermilion	-	OMIM:617146
63895	PIEZO2	HP:0000218	High palate	HP:0040282	ORPHA:376
63895	PIEZO2	HP:0000218	High palate	3/3	OMIM:108145
63895	PIEZO2	HP:0000218	High palate	-	OMIM:143095
63895	PIEZO2	HP:0000218	High palate	-	OMIM:114300
63895	PIEZO2	HP:0000218	High palate	-	OMIM:617146
63895	PIEZO2	HP:0000218	High palate	-	OMIM:248700
63895	PIEZO2	HP:0002875	Exertional dyspnea	3/3	OMIM:108145
63895	PIEZO2	HP:0002857	Genu valgum	-	OMIM:143095
63895	PIEZO2	HP:0000204	Cleft upper lip	-	OMIM:150250
63895	PIEZO2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0001511	Intrauterine growth retardation	-	OMIM:248700
63895	PIEZO2	HP:0001511	Intrauterine growth retardation	-	OMIM:150250
63895	PIEZO2	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2461
63895	PIEZO2	HP:0001510	Growth delay	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0012385	Camptodactyly	-	OMIM:248700
63895	PIEZO2	HP:0012385	Camptodactyly	6/10	OMIM:617146
63895	PIEZO2	HP:0012368	Flat face	-	OMIM:150250
63895	PIEZO2	HP:0002938	Lumbar hyperlordosis	-	OMIM:143095
63895	PIEZO2	HP:0002938	Lumbar hyperlordosis	-	OMIM:114300
63895	PIEZO2	HP:0002948	Vertebral fusion	8/16	OMIM:150250
63895	PIEZO2	HP:0002947	Cervical kyphosis	-	OMIM:150250
63895	PIEZO2	HP:0002944	Thoracolumbar scoliosis	-	OMIM:114300
63895	PIEZO2	HP:0002945	Intervertebral space narrowing	9/9	OMIM:143095
63895	PIEZO2	HP:0005180	Tricuspid regurgitation	-	OMIM:143095
63895	PIEZO2	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:376
63895	PIEZO2	HP:0000365	Hearing impairment	-	OMIM:143095
63895	PIEZO2	HP:0000365	Hearing impairment	4/19	OMIM:150250
63895	PIEZO2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0000369	Low-set ears	-	OMIM:248700
63895	PIEZO2	HP:0000369	Low-set ears	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0000343	Long philtrum	HP:0040282	OMIM:143095
63895	PIEZO2	HP:0000343	Long philtrum	-	OMIM:248700
63895	PIEZO2	HP:0000337	Broad forehead	HP:0040282	OMIM:143095
63895	PIEZO2	HP:0000347	Micrognathia	11/14	OMIM:114300
63895	PIEZO2	HP:0000347	Micrognathia	1/1	OMIM:248700
63895	PIEZO2	HP:0000347	Micrognathia	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0002982	Tibial bowing	-	OMIM:143095
63895	PIEZO2	HP:0001650	Aortic valve stenosis	-	OMIM:143095
63895	PIEZO2	HP:0001651	Dextrocardia	-	OMIM:248700
63895	PIEZO2	HP:0001651	Dextrocardia	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0000316	Hypertelorism	-	OMIM:143095
63895	PIEZO2	HP:0000316	Hypertelorism	-	OMIM:248700
63895	PIEZO2	HP:0000316	Hypertelorism	-	OMIM:150250
63895	PIEZO2	HP:0001642	Pulmonic stenosis	-	OMIM:143095
63895	PIEZO2	HP:0002974	Radioulnar synostosis	-	OMIM:248700
63895	PIEZO2	HP:0002974	Radioulnar synostosis	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0001659	Aortic regurgitation	-	OMIM:143095
63895	PIEZO2	HP:0001653	Mitral regurgitation	-	OMIM:143095
63895	PIEZO2	HP:0000325	Triangular face	HP:0040282	ORPHA:1154
63895	PIEZO2	HP:0000325	Triangular face	-	OMIM:108145
63895	PIEZO2	HP:0000324	Facial asymmetry	-	OMIM:114300
63895	PIEZO2	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:376
63895	PIEZO2	HP:0001629	Ventricular septal defect	-	OMIM:143095
63895	PIEZO2	HP:0001629	Ventricular septal defect	-	OMIM:150250
63895	PIEZO2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0001623	Breech presentation	3/6	OMIM:143095
63895	PIEZO2	HP:0002967	Cubitus valgus	-	OMIM:143095
63895	PIEZO2	HP:0001631	Atrial septal defect	-	OMIM:150250
63895	PIEZO2	HP:0007957	Corneal opacity	-	OMIM:150250
63895	PIEZO2	HP:0006610	Wide intermamillary distance	-	OMIM:143095
63895	PIEZO2	HP:0005329	Fixed facial expression	-	OMIM:248700
63895	PIEZO2	HP:0000405	Conductive hearing impairment	-	OMIM:150250
63895	PIEZO2	HP:0000400	Macrotia	HP:0040282	ORPHA:1154
63895	PIEZO2	HP:0001718	Mitral stenosis	-	OMIM:143095
63895	PIEZO2	HP:0001714	Ventricular hypertrophy	-	OMIM:143095
63895	PIEZO2	HP:0005280	Depressed nasal bridge	-	OMIM:150250
63895	PIEZO2	HP:0000483	Astigmatism	-	OMIM:108145
63895	PIEZO2	HP:0000486	Strabismus	-	OMIM:108145
63895	PIEZO2	HP:0000486	Strabismus	-	OMIM:248700
63895	PIEZO2	HP:0000490	Deeply set eye	HP:0040281	ORPHA:1154
63895	PIEZO2	HP:0000490	Deeply set eye	3/3	OMIM:108145
63895	PIEZO2	HP:0000463	Anteverted nares	-	OMIM:248700
63895	PIEZO2	HP:0000470	Short neck	-	OMIM:143095
63895	PIEZO2	HP:0000470	Short neck	-	OMIM:114300
63895	PIEZO2	HP:0000470	Short neck	-	OMIM:248700
63895	PIEZO2	HP:0001799	Short nail	-	OMIM:150250
63895	PIEZO2	HP:0001772	Talipes equinovalgus	-	OMIM:150250
63895	PIEZO2	HP:0001763	Pes planus	-	OMIM:143095
63895	PIEZO2	HP:0001763	Pes planus	6/7	OMIM:617146
63895	PIEZO2	HP:0001776	Bilateral talipes equinovarus	1/3	OMIM:108145
63895	PIEZO2	HP:0001776	Bilateral talipes equinovarus	HP:0040282	ORPHA:1154
63895	PIEZO2	HP:0000411	Protruding ear	-	OMIM:108145
63895	PIEZO2	HP:0001762	Talipes equinovarus	6/6	OMIM:143095
63895	PIEZO2	HP:0001762	Talipes equinovarus	-	OMIM:114300
63895	PIEZO2	HP:0001762	Talipes equinovarus	-	OMIM:617146
63895	PIEZO2	HP:0001762	Talipes equinovarus	-	OMIM:248700
63895	PIEZO2	HP:0001762	Talipes equinovarus	15/20	OMIM:150250
63895	PIEZO2	HP:0000431	Wide nasal bridge	-	OMIM:617146
63895	PIEZO2	HP:0001845	Overlapping toe	-	OMIM:114300
63895	PIEZO2	HP:0001840	Metatarsus adductus	HP:0040283	ORPHA:2461
63895	PIEZO2	HP:0000512	Abnormal electroretinogram	-	OMIM:108145
63895	PIEZO2	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:1154
63895	PIEZO2	HP:0001852	Sandal gap	7/9	OMIM:617146
63895	PIEZO2	HP:0000508	Ptosis	3/3	OMIM:108145
63895	PIEZO2	HP:0000508	Ptosis	5/15	OMIM:114300
63895	PIEZO2	HP:0000508	Ptosis	HP:0040281	ORPHA:1154
63895	PIEZO2	HP:0000508	Ptosis	1/1	OMIM:248700
63895	PIEZO2	HP:0000508	Ptosis	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0001836	Camptodactyly of toe	-	OMIM:114300
63895	PIEZO2	HP:0000505	Visual impairment	HP:0040282	ORPHA:1154
63895	PIEZO2	HP:0004097	Deviation of finger	HP:0040282	ORPHA:1154
63895	PIEZO2	HP:0000581	Blepharophimosis	-	OMIM:248700
63895	PIEZO2	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:2461
63895	PIEZO2	HP:0000581	Blepharophimosis	1/3	OMIM:108145
63895	PIEZO2	HP:0000586	Shallow orbits	-	OMIM:150250
63895	PIEZO2	HP:0000563	Keratoconus	-	OMIM:108145
63895	PIEZO2	HP:0011220	Prominent forehead	-	OMIM:150250
63895	PIEZO2	HP:0000568	Microphthalmia	-	OMIM:248700
63895	PIEZO2	HP:0000540	Hypermetropia	3/3	OMIM:108145
63895	PIEZO2	HP:0001883	Talipes	HP:0040281	ORPHA:376
63895	PIEZO2	HP:0001883	Talipes	HP:0040283	ORPHA:2461
63899	NSUN3	HP:0001250	Seizure	1/1	OMIM:619012
63899	NSUN3	HP:0001252	Hypotonia	1/1	OMIM:619012
63899	NSUN3	HP:0001263	Global developmental delay	2/2	OMIM:619012
63899	NSUN3	HP:0001324	Muscle weakness	2/2	OMIM:619012
63899	NSUN3	HP:0000007	Autosomal recessive inheritance	1/1	OMIM:619012
63899	NSUN3	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:619012
63899	NSUN3	HP:0011924	Decreased activity of mitochondrial complex III	1/1	OMIM:619012
63899	NSUN3	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:619012
63899	NSUN3	HP:0003593	Infantile onset	2/2	OMIM:619012
63899	NSUN3	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:619012
63899	NSUN3	HP:0000639	Nystagmus	1/1	OMIM:619012
63899	NSUN3	HP:0012762	Cerebral white matter atrophy	1/1	OMIM:619012
63899	NSUN3	HP:0003128	Lactic acidosis	1/1	OMIM:619012
63899	NSUN3	HP:0030890	Hyperintensity of cerebral white matter on MRI	1/1	OMIM:619012
63899	NSUN3	HP:0000252	Microcephaly	1/1	OMIM:619012
63899	NSUN3	HP:0001508	Failure to thrive	1/1	OMIM:619012
63899	NSUN3	HP:0000544	External ophthalmoplegia	1/1	OMIM:619012
63901	FAM111A	HP:0001156	Brachydactyly	-	OMIM:602361
63901	FAM111A	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
63901	FAM111A	HP:0001293	Cranial nerve compression	-	OMIM:131300
63901	FAM111A	HP:0001250	Seizure	1/5	OMIM:602361
63901	FAM111A	HP:0001250	Seizure	-	OMIM:127000
63901	FAM111A	HP:0001252	Hypotonia	2/7	OMIM:615777
63901	FAM111A	HP:0001249	Intellectual disability	0/5	OMIM:127000
63901	FAM111A	HP:0001249	Intellectual disability	5/7	OMIM:615777
63901	FAM111A	HP:0001263	Global developmental delay	1/1	OMIM:602361
63901	FAM111A	HP:0001263	Global developmental delay	-	OMIM:615777
63901	FAM111A	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0002515	Waddling gait	54/102	OMIM:131300
63901	FAM111A	HP:0000054	Micropenis	3/5	OMIM:602361
63901	FAM111A	HP:0001382	Joint hypermobility	-	OMIM:615777
63901	FAM111A	HP:0002694	Sclerosis of skull base	-	OMIM:131300
63901	FAM111A	HP:0008897	Postnatal growth retardation	-	OMIM:615777
63901	FAM111A	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
63901	FAM111A	HP:0001324	Muscle weakness	40/96	OMIM:131300
63901	FAM111A	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
63901	FAM111A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
63901	FAM111A	HP:0000006	Autosomal dominant inheritance	-	OMIM:127000
63901	FAM111A	HP:0000006	Autosomal dominant inheritance	-	OMIM:602361
63901	FAM111A	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
63901	FAM111A	HP:0002650	Scoliosis	12/14	OMIM:131300
63901	FAM111A	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
63901	FAM111A	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
63901	FAM111A	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
63901	FAM111A	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
63901	FAM111A	HP:0000175	Cleft palate	2/7	OMIM:615777
63901	FAM111A	HP:0001476	Delayed closure of the anterior fontanelle	1/5	OMIM:127000
63901	FAM111A	HP:0006335	Persistence of primary teeth	HP:0040283	ORPHA:93325
63901	FAM111A	HP:0007633	Bilateral microphthalmos	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0006270	Hypoplastic spleen	-	OMIM:602361
63901	FAM111A	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0003388	Easy fatigability	36/76	OMIM:131300
63901	FAM111A	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
63901	FAM111A	HP:0008198	Congenital hypoparathyroidism	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0003472	Hypocalcemic tetany	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0002135	Basal ganglia calcification	-	OMIM:127000
63901	FAM111A	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0002199	Hypocalcemic seizures	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0008285	Transient hypophosphatemia	-	OMIM:127000
63901	FAM111A	HP:0003577	Congenital onset	5/5	OMIM:602361
63901	FAM111A	HP:0003577	Congenital onset	5/5	OMIM:127000
63901	FAM111A	HP:0003510	Severe short stature	7/7	OMIM:615777
63901	FAM111A	HP:0003510	Severe short stature	5/5	OMIM:127000
63901	FAM111A	HP:0002315	Headache	-	OMIM:131300
63901	FAM111A	HP:0004976	Knee dislocation	6/7	OMIM:615777
63901	FAM111A	HP:0009803	Short phalanx of finger	-	OMIM:615777
63901	FAM111A	HP:0001085	Papilledema	-	OMIM:127000
63901	FAM111A	HP:0001085	Papilledema	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0009763	Limb pain	63/92	OMIM:131300
63901	FAM111A	HP:0003621	Juvenile onset	-	OMIM:131300
63901	FAM111A	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
63901	FAM111A	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
63901	FAM111A	HP:6001056	Out-toeing	-	OMIM:131300
63901	FAM111A	HP:0000651	Diplopia	-	OMIM:131300
63901	FAM111A	HP:0001956	Truncal obesity	2/7	OMIM:615777
63901	FAM111A	HP:0001903	Anemia	HP:0040283	OMIM:131300
63901	FAM111A	HP:0001903	Anemia	-	OMIM:127000
63901	FAM111A	HP:0001903	Anemia	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0010049	Short metacarpal	-	OMIM:615777
63901	FAM111A	HP:0000678	Dental crowding	-	OMIM:615777
63901	FAM111A	HP:0000670	Carious teeth	-	OMIM:131300
63901	FAM111A	HP:0000670	Carious teeth	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0011304	Broad thumb	2/7	OMIM:615777
63901	FAM111A	HP:0000668	Hypodontia	-	OMIM:615777
63901	FAM111A	HP:0000664	Synophrys	-	OMIM:615777
63901	FAM111A	HP:0004322	Short stature	5/5	OMIM:602361
63901	FAM111A	HP:0004322	Short stature	HP:0040281	ORPHA:93325
63901	FAM111A	HP:0004331	Decreased skull ossification	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0004331	Decreased skull ossification	HP:0040283	OMIM:602361
63901	FAM111A	HP:0004396	Poor appetite	-	OMIM:131300
63901	FAM111A	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
63901	FAM111A	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
63901	FAM111A	HP:0003015	Flared metaphysis	-	OMIM:602361
63901	FAM111A	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
63901	FAM111A	HP:0003026	Short long bone	7/7	OMIM:615777
63901	FAM111A	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
63901	FAM111A	HP:0000767	Pectus excavatum	2/7	OMIM:615777
63901	FAM111A	HP:0000768	Pectus carinatum	1/7	OMIM:615777
63901	FAM111A	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
63901	FAM111A	HP:0000750	Delayed speech and language development	-	OMIM:615777
63901	FAM111A	HP:0011461	Fetal onset	7/7	OMIM:615777
63901	FAM111A	HP:0000774	Narrow chest	2/7	OMIM:615777
63901	FAM111A	HP:0003100	Slender long bone	-	OMIM:602361
63901	FAM111A	HP:0000926	Platyspondyly	1/7	OMIM:615777
63901	FAM111A	HP:0003180	Flat acetabular roof	-	OMIM:615777
63901	FAM111A	HP:0004482	Relative macrocephaly	-	OMIM:615777
63901	FAM111A	HP:0005791	Cortical thickening of long bone diaphyses	HP:0040281	ORPHA:93325
63901	FAM111A	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
63901	FAM111A	HP:0000883	Thin ribs	-	OMIM:602361
63901	FAM111A	HP:0000829	Hypoparathyroidism	-	OMIM:127000
63901	FAM111A	HP:0000823	Delayed puberty	-	OMIM:131300
63901	FAM111A	HP:0010296	Ankyloglossia	-	OMIM:602361
63901	FAM111A	HP:0000894	Short clavicles	-	OMIM:615777
63901	FAM111A	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
63901	FAM111A	HP:0100253	Abnormality of the medullary cavity of the long bones	-	OMIM:127000
63901	FAM111A	HP:0100254	Stenosis of the medullary cavity of the long bones	HP:0040281	ORPHA:93325
63901	FAM111A	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
63901	FAM111A	HP:0000935	Thickened cortex of long bones	-	OMIM:127000
63901	FAM111A	HP:0000286	Epicanthus	1/7	OMIM:615777
63901	FAM111A	HP:0000280	Coarse facial features	2/7	OMIM:615777
63901	FAM111A	HP:0000256	Macrocephaly	-	OMIM:127000
63901	FAM111A	HP:0000270	Delayed cranial suture closure	HP:0040281	ORPHA:93325
63901	FAM111A	HP:0006470	Thin long bone diaphyses	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0002827	Hip dislocation	3/7	OMIM:615777
63901	FAM111A	HP:0000238	Hydrocephalus	2/5	OMIM:602361
63901	FAM111A	HP:0000252	Microcephaly	-	OMIM:615777
63901	FAM111A	HP:0002857	Genu valgum	-	OMIM:131300
63901	FAM111A	HP:0001522	Death in infancy	4/5	OMIM:602361
63901	FAM111A	HP:0001541	Ascites	-	OMIM:602361
63901	FAM111A	HP:0001533	Slender build	-	OMIM:131300
63901	FAM111A	HP:0001508	Failure to thrive	1/5	OMIM:602361
63901	FAM111A	HP:0001518	Small for gestational age	-	OMIM:127000
63901	FAM111A	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
63901	FAM111A	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0001510	Growth delay	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0007807	Optic nerve compression	-	OMIM:131300
63901	FAM111A	HP:0012368	Flat face	7/7	OMIM:615777
63901	FAM111A	HP:0007862	Retinal calcification	-	OMIM:127000
63901	FAM111A	HP:0007862	Retinal calcification	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
63901	FAM111A	HP:0002905	Hyperphosphatemia	-	OMIM:127000
63901	FAM111A	HP:0002905	Hyperphosphatemia	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0002901	Hypocalcemia	5/5	OMIM:602361
63901	FAM111A	HP:0002901	Hypocalcemia	3/3	OMIM:127000
63901	FAM111A	HP:0000365	Hearing impairment	10/67	OMIM:131300
63901	FAM111A	HP:0000343	Long philtrum	1/7	OMIM:615777
63901	FAM111A	HP:0011001	Increased bone mineral density	-	OMIM:131300
63901	FAM111A	HP:0011001	Increased bone mineral density	-	OMIM:127000
63901	FAM111A	HP:0000316	Hypertelorism	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0000311	Round face	2/7	OMIM:615777
63901	FAM111A	HP:0001620	Abnormally high-pitched voice	2/5	OMIM:127000
63901	FAM111A	HP:0001620	Abnormally high-pitched voice	HP:0040283	ORPHA:93325
63901	FAM111A	HP:0002970	Genu varum	-	OMIM:615777
63901	FAM111A	HP:0000303	Mandibular prognathia	-	OMIM:131300
63901	FAM111A	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
63901	FAM111A	HP:0000470	Short neck	1/7	OMIM:615777
63901	FAM111A	HP:0001769	Broad foot	HP:0040283	OMIM:615777
63901	FAM111A	HP:0001763	Pes planus	1/7	OMIM:615777
63901	FAM111A	HP:0001746	Asplenia	1/5	OMIM:602361
63901	FAM111A	HP:0005490	Postnatal macrocephaly	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0005450	Calvarial osteosclerosis	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0000519	Developmental cataract	-	OMIM:127000
63901	FAM111A	HP:0000519	Developmental cataract	HP:0040283	ORPHA:93325
63901	FAM111A	HP:0001840	Metatarsus adductus	-	OMIM:615777
63901	FAM111A	HP:0000526	Aniridia	-	OMIM:602361
63901	FAM111A	HP:0000520	Proptosis	2/4	OMIM:131300
63901	FAM111A	HP:0000520	Proptosis	7/7	OMIM:615777
63901	FAM111A	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0000592	Blue sclerae	2/7	OMIM:615777
63901	FAM111A	HP:0011220	Prominent forehead	-	OMIM:602361
63901	FAM111A	HP:0011220	Prominent forehead	5/5	OMIM:127000
63901	FAM111A	HP:0011220	Prominent forehead	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0000568	Microphthalmia	1/5	OMIM:602361
63901	FAM111A	HP:0000568	Microphthalmia	5/5	OMIM:127000
63901	FAM111A	HP:0000540	Hypermetropia	3/5	OMIM:127000
63901	FAM111A	HP:0000540	Hypermetropia	HP:0040282	ORPHA:93325
63901	FAM111A	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
63901	FAM111A	HP:0012514	Lower limb pain	4/4	OMIM:131300
63908	NAPB	HP:0020221	Clonic seizure	1/1	OMIM:620033
63908	NAPB	HP:0001250	Seizure	1/1	OMIM:620033
63908	NAPB	HP:0001252	Hypotonia	1/1	OMIM:620033
63908	NAPB	HP:0001263	Global developmental delay	1/1	OMIM:620033
63908	NAPB	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:620033
63908	NAPB	HP:0000007	Autosomal recessive inheritance	-	OMIM:620033
63908	NAPB	HP:0008936	Axial hypotonia	1/1	OMIM:620033
63908	NAPB	HP:0002187	Intellectual disability, profound	2/2	OMIM:620033
63908	NAPB	HP:0003593	Infantile onset	1/1	OMIM:620033
63908	NAPB	HP:0200134	Epileptic encephalopathy	1/1	OMIM:620033
63908	NAPB	HP:0000733	Motor stereotypy	1/1	OMIM:620033
63908	NAPB	HP:0000253	Progressive microcephaly	1/1	OMIM:620033
63908	NAPB	HP:0000252	Microcephaly	1/1	OMIM:620033
63908	NAPB	HP:0012389	Appendicular hypotonia	1/1	OMIM:620033
63908	NAPB	HP:0032792	Tonic seizure	1/1	OMIM:620033
63908	NAPB	HP:0000505	Visual impairment	1/1	OMIM:620033
63910	SLC17A9	HP:0000006	Autosomal dominant inheritance	-	OMIM:616063
63910	SLC17A9	HP:0200034	Papule	-	OMIM:616063
63910	SLC17A9	HP:0200044	Porokeratosis	-	OMIM:616063
63910	SLC17A9	HP:0200044	Porokeratosis	HP:0040281	ORPHA:79152
63910	SLC17A9	HP:0003621	Juvenile onset	-	OMIM:616063
63910	SLC17A9	HP:0011462	Young adult onset	-	OMIM:616063
63910	SLC17A9	HP:0000992	Cutaneous photosensitivity	HP:0040282	ORPHA:79152
63910	SLC17A9	HP:0000989	Pruritus	HP:0040283	ORPHA:79152
63910	SLC17A9	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:79152
63915	BLOC1S5	HP:0001107	Ocular albinism	2/2	OMIM:619172
63915	BLOC1S5	HP:0033535	Reduced platelet dense granules	2/2	OMIM:619172
63915	BLOC1S5	HP:0000007	Autosomal recessive inheritance	-	OMIM:619172
63915	BLOC1S5	HP:0007663	Reduced visual acuity	2/2	OMIM:619172
63915	BLOC1S5	HP:0000132	Menorrhagia	1/2	OMIM:619172
63915	BLOC1S5	HP:0002286	Fair hair	2/2	OMIM:619172
63915	BLOC1S5	HP:0008320	Impaired collagen-induced platelet aggregation	2/2	OMIM:619172
63915	BLOC1S5	HP:0001022	Albinism	2/2	OMIM:619172
63915	BLOC1S5	HP:0000639	Nystagmus	2/2	OMIM:619172
63915	BLOC1S5	HP:0000613	Photophobia	1/2	OMIM:619172
63915	BLOC1S5	HP:0012805	Iris transillumination defect	2/2	OMIM:619172
63915	BLOC1S5	HP:0000995	Melanocytic nevus	1/2	OMIM:619172
63915	BLOC1S5	HP:0000978	Bruising susceptibility	1/2	OMIM:619172
63915	BLOC1S5	HP:0007750	Hypoplasia of the fovea	1/2	OMIM:619172
63915	BLOC1S5	HP:0000225	Gingival bleeding	1/2	OMIM:619172
63915	BLOC1S5	HP:0000486	Strabismus	1/2	OMIM:619172
63915	BLOC1S5	HP:0000421	Epistaxis	2/2	OMIM:619172
63916	ELMO2	HP:0001250	Seizure	HP:0040281	ORPHA:3019
63916	ELMO2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3019
63916	ELMO2	HP:0410276	Supraumbilical raphe	8/8	OMIM:606893
63916	ELMO2	HP:0002516	Increased intracranial pressure	3/5	OMIM:606893
63916	ELMO2	HP:0000007	Autosomal recessive inheritance	-	OMIM:606893
63916	ELMO2	HP:0000189	Narrow palate	HP:0040281	ORPHA:3019
63916	ELMO2	HP:0000169	Gingival fibromatosis	HP:0040281	ORPHA:3019
63916	ELMO2	HP:0002797	Osteolysis	HP:0040281	ORPHA:3019
63916	ELMO2	HP:0100585	Telangiectasia of the skin	HP:0040283	ORPHA:3019
63916	ELMO2	HP:0002230	Generalized hirsutism	HP:0040282	ORPHA:3019
63916	ELMO2	HP:0003676	Progressive	-	OMIM:606893
63916	ELMO2	HP:4000093	Ectopic tooth eruption	8/8	OMIM:606893
63916	ELMO2	HP:0001931	Hypochromic anemia	5/5	OMIM:606893
63916	ELMO2	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:3019
63916	ELMO2	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:3019
63916	ELMO2	HP:0003155	Elevated circulating alkaline phosphatase concentration	4/5	OMIM:606893
63916	ELMO2	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:3019
63916	ELMO2	HP:0000962	Hyperkeratosis	HP:0040283	ORPHA:3019
63916	ELMO2	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:3019
63916	ELMO2	HP:0000293	Full cheeks	HP:0040281	ORPHA:3019
63916	ELMO2	HP:0000225	Gingival bleeding	8/8	OMIM:606893
63916	ELMO2	HP:0001540	Diastasis recti	8/8	OMIM:606893
63916	ELMO2	HP:0001537	Umbilical hernia	7/8	OMIM:606893
63916	ELMO2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:3019
63916	ELMO2	HP:0000324	Facial asymmetry	8/8	OMIM:606893
63916	ELMO2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:3019
63916	ELMO2	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:3019
63916	ELMO2	HP:0000520	Proptosis	7/8	OMIM:606893
63916	ELMO2	HP:0000593	Abnormal anterior chamber morphology	HP:0040283	ORPHA:3019
63916	ELMO2	HP:0000572	Visual loss	5/6	OMIM:606893
63924	CIDEC	HP:0003712	Skeletal muscle hypertrophy	HP:0040281	ORPHA:435651
63924	CIDEC	HP:0001397	Hepatic steatosis	1/1	OMIM:615238
63924	CIDEC	HP:0001397	Hepatic steatosis	HP:0040281	ORPHA:435651
63924	CIDEC	HP:0000007	Autosomal recessive inheritance	-	OMIM:615238
63924	CIDEC	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:435651
63924	CIDEC	HP:0008981	Calf muscle hypertrophy	HP:0040281	ORPHA:435651
63924	CIDEC	HP:0002155	Hypertriglyceridemia	1/1	OMIM:615238
63924	CIDEC	HP:0002155	Hypertriglyceridemia	HP:0040281	ORPHA:435651
63924	CIDEC	HP:0002240	Hepatomegaly	1/1	OMIM:615238
63924	CIDEC	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:435651
63924	CIDEC	HP:0003635	Loss of subcutaneous adipose tissue in limbs	HP:0040280	ORPHA:435651
63924	CIDEC	HP:0003621	Juvenile onset	1/1	OMIM:615238
63924	CIDEC	HP:0001953	Diabetic ketoacidosis	1/1	OMIM:615238
63924	CIDEC	HP:0009017	Loss of gluteal subcutaneous adipose tissue	HP:0040281	ORPHA:435651
63924	CIDEC	HP:0030685	Decreased adiponectin level	HP:0040281	ORPHA:435651
63924	CIDEC	HP:0030685	Decreased adiponectin level	1/1	OMIM:615238
63924	CIDEC	HP:0009125	Lipodystrophy	1/1	OMIM:615238
63924	CIDEC	HP:0009125	Lipodystrophy	HP:0040280	ORPHA:435651
63924	CIDEC	HP:0030796	Increased C-peptide level	1/1	OMIM:615238
63924	CIDEC	HP:0000876	Oligomenorrhea	HP:0040281	ORPHA:435651
63924	CIDEC	HP:0000858	Irregular menstruation	1/1	OMIM:615238
63924	CIDEC	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040281	ORPHA:435651
63924	CIDEC	HP:0000822	Hypertension	1/1	OMIM:615238
63924	CIDEC	HP:0003292	Decreased serum leptin	HP:0040281	ORPHA:435651
63924	CIDEC	HP:0003292	Decreased serum leptin	1/1	OMIM:615238
63924	CIDEC	HP:0000956	Acanthosis nigricans	1/1	OMIM:615238
63924	CIDEC	HP:0000956	Acanthosis nigricans	HP:0040281	ORPHA:435651
63924	CIDEC	HP:0000292	Loss of facial adipose tissue	-	ORPHA:435651
63924	CIDEC	HP:0001733	Pancreatitis	HP:0040281	ORPHA:435651
63925	ZNF335	HP:0002472	Small cerebral cortex	HP:0040281	ORPHA:329228
63925	ZNF335	HP:0009879	Simplified gyral pattern	-	OMIM:615095
63925	ZNF335	HP:0009879	Simplified gyral pattern	HP:0040281	ORPHA:329228
63925	ZNF335	HP:0001276	Hypertonia	-	OMIM:615095
63925	ZNF335	HP:0001272	Cerebellar atrophy	-	OMIM:615095
63925	ZNF335	HP:0001274	Agenesis of corpus callosum	-	OMIM:615095
63925	ZNF335	HP:0001257	Spasticity	-	OMIM:615095
63925	ZNF335	HP:0002538	Abnormal cerebral cortex morphology	HP:0040281	ORPHA:329228
63925	ZNF335	HP:0000007	Autosomal recessive inheritance	-	OMIM:615095
63925	ZNF335	HP:0001317	Abnormal cerebellum morphology	HP:0040281	ORPHA:329228
63925	ZNF335	HP:0002060	Abnormal cerebral morphology	HP:0040281	ORPHA:329228
63925	ZNF335	HP:0002059	Cerebral atrophy	-	OMIM:615095
63925	ZNF335	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:329228
63925	ZNF335	HP:0002188	Delayed CNS myelination	-	OMIM:615095
63925	ZNF335	HP:0002171	Gliosis	-	OMIM:615095
63925	ZNF335	HP:0003577	Congenital onset	9/9	OMIM:615095
63925	ZNF335	HP:0011344	Severe global developmental delay	1/1	OMIM:615095
63925	ZNF335	HP:0011451	Primary microcephaly	9/9	OMIM:615095
63925	ZNF335	HP:0012757	Abnormal neuron morphology	HP:0040281	ORPHA:329228
63925	ZNF335	HP:0100307	Cerebellar hemisphere hypoplasia	-	OMIM:615095
63925	ZNF335	HP:0034295	Reduced cerebral white matter volume	-	OMIM:615095
63925	ZNF335	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:615095
63925	ZNF335	HP:0000252	Microcephaly	HP:0040281	ORPHA:329228
63925	ZNF335	HP:0001518	Small for gestational age	-	OMIM:615095
63925	ZNF335	HP:0001511	Intrauterine growth retardation	-	OMIM:615095
63925	ZNF335	HP:0000340	Sloping forehead	-	OMIM:615095
63925	ZNF335	HP:0000347	Micrognathia	-	OMIM:615095
63925	ZNF335	HP:0012444	Brain atrophy	HP:0040281	ORPHA:329228
63925	ZNF335	HP:0000453	Choanal atresia	-	OMIM:615095
63925	ZNF335	HP:0000426	Prominent nasal bridge	-	OMIM:615095
63925	ZNF335	HP:0000518	Cataract	-	OMIM:615095
63929	XPNPEP3	HP:0003774	Stage 5 chronic kidney disease	2/5	OMIM:613159
63929	XPNPEP3	HP:0001250	Seizure	2/5	OMIM:613159
63929	XPNPEP3	HP:0001249	Intellectual disability	2/5	OMIM:613159
63929	XPNPEP3	HP:0000090	Nephronophthisis	4/4	OMIM:613159
63929	XPNPEP3	HP:0000092	Renal tubular atrophy	1/1	OMIM:613159
63929	XPNPEP3	HP:0000007	Autosomal recessive inheritance	-	OMIM:613159
63929	XPNPEP3	HP:0006280	Chronic pancreatitis	2/5	OMIM:613159
63929	XPNPEP3	HP:0000108	Renal corticomedullary cysts	-	OMIM:613159
63929	XPNPEP3	HP:0004719	Hyperechogenic kidneys	5/5	OMIM:613159
63929	XPNPEP3	HP:0100702	Arachnoid cyst	1/5	OMIM:613159
63929	XPNPEP3	HP:0005583	Tubular basement membrane disintegration	1/1	OMIM:613159
63929	XPNPEP3	HP:0000822	Hypertension	3/5	OMIM:613159
63929	XPNPEP3	HP:0030186	Kinetic tremor	3/5	OMIM:613159
63929	XPNPEP3	HP:0000407	Sensorineural hearing impairment	2/5	OMIM:613159
63929	XPNPEP3	HP:0001737	Pancreatic cysts	1/5	OMIM:613159
63931	MRPS14	HP:0001290	Generalized hypotonia	1/1	OMIM:618378
63931	MRPS14	HP:0001263	Global developmental delay	1/1	OMIM:618378
63931	MRPS14	HP:0000007	Autosomal recessive inheritance	-	OMIM:618378
63931	MRPS14	HP:0003348	Hyperalaninemia	1/1	OMIM:618378
63931	MRPS14	HP:0011800	Midface retrusion	1/1	OMIM:618378
63931	MRPS14	HP:0002093	Respiratory insufficiency	1/1	OMIM:618378
63931	MRPS14	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:618378
63931	MRPS14	HP:0011924	Decreased activity of mitochondrial complex III	1/1	OMIM:618378
63931	MRPS14	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	1/1	OMIM:618378
63931	MRPS14	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:618378
63931	MRPS14	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:618378
63931	MRPS14	HP:0008322	Abnormal mitochondrial morphology	1/1	OMIM:618378
63931	MRPS14	HP:0031936	Delayed ability to walk	1/1	OMIM:618378
63931	MRPS14	HP:0000750	Delayed speech and language development	1/1	OMIM:618378
63931	MRPS14	HP:0003128	Lactic acidosis	1/1	OMIM:618378
63931	MRPS14	HP:0001508	Failure to thrive	1/1	OMIM:618378
63931	MRPS14	HP:0000358	Posteriorly rotated ears	1/1	OMIM:618378
63931	MRPS14	HP:0000369	Low-set ears	1/1	OMIM:618378
63931	MRPS14	HP:0000316	Hypertelorism	1/1	OMIM:618378
63931	MRPS14	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:618378
63931	MRPS14	HP:0001716	Wolff-Parkinson-White syndrome	1/1	OMIM:618378
63931	MRPS14	HP:0005280	Depressed nasal bridge	1/1	OMIM:618378
63932	STEEP1	HP:0009899	Prominent crus of helix	2/6	OMIM:301013
63932	STEEP1	HP:0001250	Seizure	1/6	OMIM:301013
63932	STEEP1	HP:0001249	Intellectual disability	6/6	OMIM:301013
63932	STEEP1	HP:0001263	Global developmental delay	6/6	OMIM:301013
63932	STEEP1	HP:0001417	X-linked inheritance	-	OMIM:301013
63932	STEEP1	HP:0011822	Broad chin	1/6	OMIM:301013
63932	STEEP1	HP:0007018	Attention deficit hyperactivity disorder	1/6	OMIM:301013
63932	STEEP1	HP:0000752	Hyperactivity	1/6	OMIM:301013
63932	STEEP1	HP:0000739	Anxiety	1/6	OMIM:301013
63932	STEEP1	HP:0000718	Aggressive behavior	1/6	OMIM:301013
63932	STEEP1	HP:0000729	Autistic behavior	2/6	OMIM:301013
63932	STEEP1	HP:0000275	Narrow face	2/6	OMIM:301013
63932	STEEP1	HP:0000276	Long face	5/6	OMIM:301013
63932	STEEP1	HP:0000219	Thin upper lip vermilion	1/6	OMIM:301013
63932	STEEP1	HP:0001513	Obesity	1/6	OMIM:301013
63932	STEEP1	HP:0000337	Broad forehead	2/6	OMIM:301013
63932	STEEP1	HP:0000319	Smooth philtrum	2/6	OMIM:301013
63932	STEEP1	HP:0000303	Mandibular prognathia	3/6	OMIM:301013
63932	STEEP1	HP:0000400	Macrotia	3/6	OMIM:301013
63932	STEEP1	HP:0011245	Abnormality of superior crus of antihelix	1/6	OMIM:301013
63932	STEEP1	HP:0000582	Upslanted palpebral fissure	3/6	OMIM:301013
63976	PRDM16	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0002465	Poor speech	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0001107	Ocular albinism	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
63976	PRDM16	HP:0025169	Left ventricular systolic dysfunction	2/3	OMIM:615373
63976	PRDM16	HP:0025168	Left ventricular diastolic dysfunction	1/3	OMIM:615373
63976	PRDM16	HP:0008551	Microtia	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0001250	Seizure	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0001252	Hypotonia	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0002591	Polyphagia	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000055	Abnormal female external genitalia morphology	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000047	Hypospadias	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0001344	Absent speech	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0000006	Autosomal dominant inheritance	-	OMIM:615373
63976	PRDM16	HP:0002650	Scoliosis	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000160	Narrow mouth	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0000135	Hypogonadism	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000107	Renal cyst	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0002019	Constipation	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0002015	Dysphagia	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0002007	Frontal bossing	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
63976	PRDM16	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
63976	PRDM16	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0002242	Abnormal intestine morphology	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0100716	Self-injurious behavior	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0001009	Telangiectasia	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0008499	High hypermetropia	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0003621	Juvenile onset	2/3	OMIM:615373
63976	PRDM16	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000639	Nystagmus	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0004322	Short stature	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0030682	Left ventricular noncompaction	3/3	OMIM:615373
63976	PRDM16	HP:0004378	Abnormality of the anus	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0012733	Macule	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0000717	Autism	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0011462	Young adult onset	1/3	OMIM:615373
63976	PRDM16	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
63976	PRDM16	HP:0003198	Myopathy	HP:0040283	ORPHA:154
63976	PRDM16	HP:0003198	Myopathy	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000902	Rib fusion	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000878	11 pairs of ribs	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000892	Bifid ribs	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000969	Edema	HP:0040282	ORPHA:154
63976	PRDM16	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
63976	PRDM16	HP:0011675	Arrhythmia	1/3	OMIM:615373
63976	PRDM16	HP:0000286	Epicanthus	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0002808	Kyphosis	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000252	Microcephaly	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0000248	Brachycephaly	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
63976	PRDM16	HP:0001508	Failure to thrive	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0001513	Obesity	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0012378	Fatigue	HP:0040282	ORPHA:154
63976	PRDM16	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000343	Long philtrum	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
63976	PRDM16	HP:0001644	Dilated cardiomyopathy	1/3	OMIM:615373
63976	PRDM16	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0001653	Mitral regurgitation	1/3	OMIM:615373
63976	PRDM16	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
63976	PRDM16	HP:0001635	Congestive heart failure	1/3	OMIM:615373
63976	PRDM16	HP:0000307	Pointed chin	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
63976	PRDM16	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
63976	PRDM16	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0001734	Annular pancreas	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0000486	Strabismus	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0000490	Deeply set eye	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0000464	Abnormality of the neck	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0001773	Short foot	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0001743	Abnormality of the spleen	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0000518	Cataract	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000505	Visual impairment	HP:0040283	ORPHA:1606
63976	PRDM16	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:1606
63976	PRDM16	HP:0011228	Horizontal eyebrow	HP:0040281	ORPHA:1606
63976	PRDM16	HP:0000534	Abnormal eyebrow morphology	HP:0040282	ORPHA:1606
63982	ANO3	HP:0002451	Limb dystonia	HP:0040282	ORPHA:420485
63982	ANO3	HP:0007351	Upper limb postural tremor	HP:0040283	ORPHA:420485
63982	ANO3	HP:0003829	Typified by incomplete penetrance	-	OMIM:615034
63982	ANO3	HP:0012048	Oromandibular dystonia	2/8	OMIM:615034
63982	ANO3	HP:0012048	Oromandibular dystonia	HP:0040283	ORPHA:420485
63982	ANO3	HP:0000006	Autosomal dominant inheritance	-	OMIM:615034
63982	ANO3	HP:0001336	Myoclonus	HP:0040283	ORPHA:420485
63982	ANO3	HP:0200085	Limb tremor	7/8	OMIM:615034
63982	ANO3	HP:0002378	Hand tremor	HP:0040283	ORPHA:420485
63982	ANO3	HP:0002346	Head tremor	1/8	OMIM:615034
63982	ANO3	HP:0003621	Juvenile onset	1/8	OMIM:615034
63982	ANO3	HP:0000643	Blepharospasm	1/8	OMIM:615034
63982	ANO3	HP:0000643	Blepharospasm	HP:0040282	ORPHA:420485
63982	ANO3	HP:0031960	Arm dystonia	4/8	OMIM:615034
63982	ANO3	HP:0011462	Young adult onset	7/8	OMIM:615034
63982	ANO3	HP:0001600	Abnormality of the larynx	HP:0040283	ORPHA:420485
63982	ANO3	HP:0012477	Vocal tremor	HP:0040282	ORPHA:420485
63982	ANO3	HP:0000473	Torticollis	HP:0040282	ORPHA:420485
63982	ANO3	HP:0000473	Torticollis	8/8	OMIM:615034
64065	PERP	HP:0100825	Cheilitis	4/4	OMIM:619208
64065	PERP	HP:0001250	Seizure	HP:0040283	ORPHA:659
64065	PERP	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:659
64065	PERP	HP:0033707	Perioral hyperkeratosis	5/5	OMIM:619208
64065	PERP	HP:0007410	Palmoplantar hyperhidrosis	HP:0040281	ORPHA:659
64065	PERP	HP:0031057	Skin fissure	HP:0040281	ORPHA:659
64065	PERP	HP:0031013	Ankylosis	HP:0040281	ORPHA:659
64065	PERP	HP:0000007	Autosomal recessive inheritance	-	OMIM:619209
64065	PERP	HP:0000006	Autosomal dominant inheritance	-	OMIM:619208
64065	PERP	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:659
64065	PERP	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:659
64065	PERP	HP:0000168	Abnormality of the gingiva	HP:0040283	ORPHA:659
64065	PERP	HP:0002797	Osteolysis	HP:0040283	ORPHA:659
64065	PERP	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:659
64065	PERP	HP:0011830	Abnormal oral mucosa morphology	HP:0040283	ORPHA:659
64065	PERP	HP:0003593	Infantile onset	4/4	OMIM:619208
64065	PERP	HP:0002224	Woolly hair	1/1	OMIM:619209
64065	PERP	HP:0002224	Woolly hair	2/4	OMIM:619208
64065	PERP	HP:0002289	Alopecia universalis	1/1	OMIM:619208
64065	PERP	HP:0001036	Parakeratosis	1/1	OMIM:619208
64065	PERP	HP:0025092	Epidermal acanthosis	2/2	OMIM:619208
64065	PERP	HP:0001072	Thickened skin	HP:0040281	ORPHA:659
64065	PERP	HP:0200042	Skin ulcer	HP:0040282	ORPHA:659
64065	PERP	HP:0010783	Erythema	HP:0040281	ORPHA:659
64065	PERP	HP:0000670	Carious teeth	HP:0040282	ORPHA:659
64065	PERP	HP:0000668	Hypodontia	HP:0040282	ORPHA:659
64065	PERP	HP:0000972	Palmoplantar hyperkeratosis	4/4	OMIM:619209
64065	PERP	HP:0000972	Palmoplantar hyperkeratosis	1/1	OMIM:619208
64065	PERP	HP:0000989	Pruritus	1/1	OMIM:619208
64065	PERP	HP:0000982	Palmoplantar keratoderma	4/4	OMIM:619208
64065	PERP	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:659
64065	PERP	HP:0000970	Anhidrosis	1/1	OMIM:619209
64065	PERP	HP:0000970	Anhidrosis	HP:0040281	ORPHA:659
64065	PERP	HP:0000962	Hyperkeratosis	1/1	OMIM:619208
64065	PERP	HP:0008070	Sparse hair	1/1	OMIM:619208
64065	PERP	HP:0008070	Sparse hair	HP:0040281	ORPHA:659
64065	PERP	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:659
64065	PERP	HP:0001596	Alopecia	HP:0040283	ORPHA:659
64065	PERP	HP:0002861	Melanoma	HP:0040283	ORPHA:659
64065	PERP	HP:0030044	Flexion contracture of digit	1/1	OMIM:619208
64065	PERP	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:659
64065	PERP	HP:0001810	Dystrophic toenail	1/1	OMIM:619209
64072	CDH23	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
64072	CDH23	HP:0001123	Visual field defect	HP:0040284	ORPHA:96253
64072	CDH23	HP:0001117	Sudden loss of visual acuity	HP:0040283	ORPHA:91347
64072	CDH23	HP:0001117	Sudden loss of visual acuity	HP:0040283	ORPHA:2965
64072	CDH23	HP:0010885	Avascular necrosis	HP:0040284	ORPHA:96253
64072	CDH23	HP:0033505	Livedo reticularis	HP:0040283	ORPHA:96253
64072	CDH23	HP:0001297	Stroke	HP:0040283	ORPHA:96253
64072	CDH23	HP:0025269	Panic attack	HP:0040284	ORPHA:96253
64072	CDH23	HP:0100829	Galactorrhea	HP:0040281	ORPHA:2965
64072	CDH23	HP:0001250	Seizure	HP:0040283	ORPHA:2965
64072	CDH23	HP:0001250	Seizure	HP:0040283	ORPHA:91347
64072	CDH23	HP:0001251	Ataxia	HP:0040281	ORPHA:231169
64072	CDH23	HP:0001249	Intellectual disability	HP:0040281	ORPHA:231169
64072	CDH23	HP:0001263	Global developmental delay	HP:0040281	ORPHA:231169
64072	CDH23	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:231169
64072	CDH23	HP:0003829	Typified by incomplete penetrance	-	OMIM:617540
64072	CDH23	HP:0025383	Dorsocervical fat pad	HP:0040282	ORPHA:96253
64072	CDH23	HP:0012041	Decreased fertility in males	HP:0040282	ORPHA:91347
64072	CDH23	HP:0012041	Decreased fertility in males	HP:0040281	ORPHA:2965
64072	CDH23	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:2965
64072	CDH23	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:91347
64072	CDH23	HP:0012030	Increased urinary cortisol level	HP:0040281	ORPHA:96253
64072	CDH23	HP:0002690	Large sella turcica	HP:0040283	ORPHA:96253
64072	CDH23	HP:0000026	Male hypogonadism	HP:0040282	ORPHA:91347
64072	CDH23	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:2965
64072	CDH23	HP:0001324	Muscle weakness	HP:0040282	ORPHA:96253
64072	CDH23	HP:0000007	Autosomal recessive inheritance	-	OMIM:601386
64072	CDH23	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
64072	CDH23	HP:0000007	Autosomal recessive inheritance	-	OMIM:601067
64072	CDH23	HP:0001337	Tremor	HP:0040282	ORPHA:91347
64072	CDH23	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
64072	CDH23	HP:0000006	Autosomal dominant inheritance	-	OMIM:617540
64072	CDH23	HP:0002615	Hypotension	HP:0040282	ORPHA:2965
64072	CDH23	HP:0002615	Hypotension	HP:0040282	ORPHA:91347
64072	CDH23	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:231169
64072	CDH23	HP:0000141	Amenorrhea	HP:0040282	ORPHA:96253
64072	CDH23	HP:0000141	Amenorrhea	HP:0040281	ORPHA:2965
64072	CDH23	HP:0000140	Abnormality of the menstrual cycle	HP:0040282	ORPHA:91347
64072	CDH23	HP:0000140	Abnormality of the menstrual cycle	HP:0040281	ORPHA:2965
64072	CDH23	HP:0000135	Hypogonadism	HP:0040281	ORPHA:2965
64072	CDH23	HP:0000135	Hypogonadism	HP:0040282	ORPHA:91347
64072	CDH23	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
64072	CDH23	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
64072	CDH23	HP:0031284	Flushing	HP:0040283	ORPHA:96253
64072	CDH23	HP:0500011	Moon facies	HP:0040282	ORPHA:96253
64072	CDH23	HP:0000134	Female hypogonadism	HP:0040282	ORPHA:91347
64072	CDH23	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:2965
64072	CDH23	HP:0002721	Immunodeficiency	HP:0040282	ORPHA:96253
64072	CDH23	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:2965
64072	CDH23	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:91347
64072	CDH23	HP:0002013	Vomiting	HP:0040282	ORPHA:2965
64072	CDH23	HP:0002013	Vomiting	HP:0040282	ORPHA:91347
64072	CDH23	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:96253
64072	CDH23	HP:0003388	Easy fatigability	HP:0040282	ORPHA:2965
64072	CDH23	HP:0003388	Easy fatigability	HP:0040282	ORPHA:91347
64072	CDH23	HP:0011782	Thyroid crisis	HP:0040282	ORPHA:91347
64072	CDH23	HP:0011748	Adrenocorticotropic hormone deficiency	HP:0040282	ORPHA:91347
64072	CDH23	HP:0011748	Adrenocorticotropic hormone deficiency	HP:0040282	ORPHA:2965
64072	CDH23	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:91347
64072	CDH23	HP:0011734	Central adrenal insufficiency	HP:0040282	ORPHA:2965
64072	CDH23	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	HP:0040282	ORPHA:91347
64072	CDH23	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	HP:0040282	ORPHA:2965
64072	CDH23	HP:0040270	Impaired glucose tolerance	HP:0040282	ORPHA:96253
64072	CDH23	HP:0008153	Periodic hypokalemic paresis	HP:0040283	ORPHA:91347
64072	CDH23	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:231169
64072	CDH23	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0040281	ORPHA:96253
64072	CDH23	HP:0008240	Secondary growth hormone deficiency	HP:0040282	ORPHA:91347
64072	CDH23	HP:0008240	Secondary growth hormone deficiency	HP:0040282	ORPHA:2965
64072	CDH23	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:2965
64072	CDH23	HP:0008247	Euthyroid hyperthyroxinemia	HP:0040283	ORPHA:91347
64072	CDH23	HP:0008221	Adrenal hyperplasia	HP:0040282	ORPHA:96253
64072	CDH23	HP:0008291	Pituitary corticotropic cell adenoma	HP:0040281	ORPHA:96253
64072	CDH23	HP:0003581	Adult onset	-	OMIM:617540
64072	CDH23	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:96253
64072	CDH23	HP:0100753	Schizophrenia	HP:0040282	ORPHA:231169
64072	CDH23	HP:0011999	Paranoia	HP:0040284	ORPHA:96253
64072	CDH23	HP:0007011	Fourth cranial nerve palsy	HP:0040283	ORPHA:91347
64072	CDH23	HP:0007011	Fourth cranial nerve palsy	HP:0040283	ORPHA:2965
64072	CDH23	HP:0001058	Poor wound healing	HP:0040282	ORPHA:96253
64072	CDH23	HP:0001050	Plethora	HP:0040282	ORPHA:96253
64072	CDH23	HP:0025017	Capillary fragility	HP:0040282	ORPHA:96253
64072	CDH23	HP:0001065	Striae distensae	HP:0040282	ORPHA:96253
64072	CDH23	HP:0001061	Acne	HP:0040282	ORPHA:96253
64072	CDH23	HP:0001007	Hirsutism	HP:0040282	ORPHA:96253
64072	CDH23	HP:0002354	Memory impairment	HP:0040283	ORPHA:96253
64072	CDH23	HP:0002321	Vertigo	HP:0040283	ORPHA:2965
64072	CDH23	HP:0002321	Vertigo	HP:0040283	ORPHA:91347
64072	CDH23	HP:0002315	Headache	HP:0040282	ORPHA:2965
64072	CDH23	HP:0002315	Headache	HP:0040283	ORPHA:96253
64072	CDH23	HP:0002315	Headache	HP:0040282	ORPHA:91347
64072	CDH23	HP:0200042	Skin ulcer	HP:0040283	ORPHA:96253
64072	CDH23	HP:0100639	Erectile dysfunction	HP:0040282	ORPHA:91347
64072	CDH23	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:2965
64072	CDH23	HP:0008499	High hypermetropia	HP:0040282	ORPHA:231169
64072	CDH23	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:96253
64072	CDH23	HP:0010741	Pedal edema	HP:0040284	ORPHA:96253
64072	CDH23	HP:0003621	Juvenile onset	8/19	OMIM:180100
64072	CDH23	HP:0031845	Abnormal libido	HP:0040283	ORPHA:96253
64072	CDH23	HP:0030517	Heteronymous hemianopia	HP:0040283	ORPHA:91347
64072	CDH23	HP:0030517	Heteronymous hemianopia	HP:0040283	ORPHA:2965
64072	CDH23	HP:0030521	Bitemporal hemianopia	HP:0040283	ORPHA:91347
64072	CDH23	HP:0030521	Bitemporal hemianopia	HP:0040283	ORPHA:2965
64072	CDH23	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:2965
64072	CDH23	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:91347
64072	CDH23	HP:0031891	Decreased total eosinophil count	HP:0040282	ORPHA:96253
64072	CDH23	HP:0006897	Abducens palsy	HP:0040283	ORPHA:91347
64072	CDH23	HP:0006897	Abducens palsy	HP:0040283	ORPHA:2965
64072	CDH23	HP:0001962	Palpitations	HP:0040282	ORPHA:91347
64072	CDH23	HP:0000651	Diplopia	HP:0040283	ORPHA:2965
64072	CDH23	HP:0000651	Diplopia	HP:0040283	ORPHA:91347
64072	CDH23	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:96253
64072	CDH23	HP:0000618	Blindness	HP:0040283	ORPHA:2965
64072	CDH23	HP:0000618	Blindness	HP:0040283	ORPHA:91347
64072	CDH23	HP:0001956	Truncal obesity	HP:0040282	ORPHA:96253
64072	CDH23	HP:0011370	Recurrent cutaneous fungal infections	HP:0040283	ORPHA:96253
64072	CDH23	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:91347
64072	CDH23	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:2965
64072	CDH23	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:231169
64072	CDH23	HP:0000662	Nyctalopia	26/28	OMIM:180100
64072	CDH23	HP:0000662	Nyctalopia	HP:0040281	ORPHA:231169
64072	CDH23	HP:0004324	Increased body weight	HP:0040282	ORPHA:96253
64072	CDH23	HP:0004308	Ventricular arrhythmia	HP:0040283	ORPHA:91347
64072	CDH23	HP:0000802	Impotence	HP:0040282	ORPHA:91347
64072	CDH23	HP:0000802	Impotence	HP:0040281	ORPHA:2965
64072	CDH23	HP:0012743	Abdominal obesity	HP:0040282	ORPHA:96253
64072	CDH23	HP:0000771	Gynecomastia	HP:0040282	ORPHA:2965
64072	CDH23	HP:0000771	Gynecomastia	HP:0040282	ORPHA:91347
64072	CDH23	HP:0000738	Hallucinations	HP:0040283	ORPHA:231169
64072	CDH23	HP:0000739	Anxiety	HP:0040283	ORPHA:231169
64072	CDH23	HP:0000716	Depression	HP:0040283	ORPHA:96253
64072	CDH23	HP:0000716	Depression	HP:0040283	ORPHA:231169
64072	CDH23	HP:0000712	Emotional lability	HP:0040282	ORPHA:96253
64072	CDH23	HP:0000726	Dementia	HP:0040284	ORPHA:96253
64072	CDH23	HP:0000725	Psychotic episodes	HP:0040283	ORPHA:96253
64072	CDH23	HP:0000709	Psychosis	HP:0040284	ORPHA:96253
64072	CDH23	HP:0000708	Atypical behavior	HP:0040282	ORPHA:96253
64072	CDH23	HP:0030588	Abnormal visual field test	HP:0040283	ORPHA:91347
64072	CDH23	HP:0011463	Childhood onset	3/19	OMIM:180100
64072	CDH23	HP:0011462	Young adult onset	8/19	OMIM:180100
64072	CDH23	HP:0000789	Infertility	HP:0040283	ORPHA:91347
64072	CDH23	HP:0003118	Increased circulating cortisol level	HP:0040281	ORPHA:96253
64072	CDH23	HP:0003154	Increased circulating ACTH level	HP:0040282	ORPHA:96253
64072	CDH23	HP:0000876	Oligomenorrhea	HP:0040283	ORPHA:96253
64072	CDH23	HP:0000858	Irregular menstruation	HP:0040282	ORPHA:91347
64072	CDH23	HP:0000858	Irregular menstruation	HP:0040281	ORPHA:2965
64072	CDH23	HP:0000853	Goiter	HP:0040281	ORPHA:91347
64072	CDH23	HP:0000870	Increased circulating prolactin concentration	HP:0040283	ORPHA:91347
64072	CDH23	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:96253
64072	CDH23	HP:0000868	Decreased fertility in females	HP:0040282	ORPHA:91347
64072	CDH23	HP:0000868	Decreased fertility in females	HP:0040281	ORPHA:2965
64072	CDH23	HP:0000837	Increased circulating gonadotropin level	HP:0040283	ORPHA:91347
64072	CDH23	HP:0000836	Hyperthyroidism	HP:0040281	ORPHA:91347
64072	CDH23	HP:0000830	Anterior hypopituitarism	HP:0040283	ORPHA:2965
64072	CDH23	HP:0000845	Elevated circulating growth hormone concentration	HP:0040283	ORPHA:91347
64072	CDH23	HP:0000845	Elevated circulating growth hormone concentration	HP:0040283	ORPHA:2965
64072	CDH23	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:96253
64072	CDH23	HP:0000822	Hypertension	HP:0040282	ORPHA:96253
64072	CDH23	HP:0000822	Hypertension	HP:0040283	ORPHA:91347
64072	CDH23	HP:0000823	Delayed puberty	HP:0040283	ORPHA:2965
64072	CDH23	HP:0000823	Delayed puberty	HP:0040283	ORPHA:91347
64072	CDH23	HP:0010284	Intra-oral hyperpigmentation	HP:0040282	ORPHA:96253
64072	CDH23	HP:0000980	Pallor	HP:0040282	ORPHA:2965
64072	CDH23	HP:0000980	Pallor	HP:0040282	ORPHA:91347
64072	CDH23	HP:0000979	Purpura	HP:0040283	ORPHA:96253
64072	CDH23	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:91347
64072	CDH23	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:96253
64072	CDH23	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:96253
64072	CDH23	HP:0000963	Thin skin	HP:0040282	ORPHA:96253
64072	CDH23	HP:0000939	Osteoporosis	HP:0040282	ORPHA:2965
64072	CDH23	HP:0000939	Osteoporosis	HP:0040282	ORPHA:96253
64072	CDH23	HP:0000939	Osteoporosis	HP:0040282	ORPHA:91347
64072	CDH23	HP:0000938	Osteopenia	HP:0040282	ORPHA:2965
64072	CDH23	HP:0000938	Osteopenia	HP:0040282	ORPHA:91347
64072	CDH23	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:91347
64072	CDH23	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:2965
64072	CDH23	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:91347
64072	CDH23	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
64072	CDH23	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:231169
64072	CDH23	HP:0002893	Pituitary adenoma	-	OMIM:617540
64072	CDH23	HP:0030018	Decreased female libido	HP:0040282	ORPHA:91347
64072	CDH23	HP:0030018	Decreased female libido	HP:0040281	ORPHA:2965
64072	CDH23	HP:0030016	Dyspareunia	HP:0040282	ORPHA:2965
64072	CDH23	HP:0031364	Ecchymosis	HP:0040283	ORPHA:96253
64072	CDH23	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
64072	CDH23	HP:0007807	Optic nerve compression	HP:0040284	ORPHA:96253
64072	CDH23	HP:0000399	Prelingual sensorineural hearing impairment	6/6	OMIM:601386
64072	CDH23	HP:0012378	Fatigue	HP:0040282	ORPHA:2965
64072	CDH23	HP:0012378	Fatigue	HP:0040282	ORPHA:91347
64072	CDH23	HP:0012377	Hemianopia	HP:0040281	ORPHA:231169
64072	CDH23	HP:0012377	Hemianopia	HP:0040283	ORPHA:91347
64072	CDH23	HP:0012377	Hemianopia	HP:0040283	ORPHA:2965
64072	CDH23	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040282	ORPHA:96253
64072	CDH23	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	HP:0040281	ORPHA:91347
64072	CDH23	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:91347
64072	CDH23	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:2965
64072	CDH23	HP:0002900	Hypokalemia	HP:0040283	ORPHA:91347
64072	CDH23	HP:0000365	Hearing impairment	-	OMIM:601067
64072	CDH23	HP:0000375	Abnormal cochlea morphology	HP:0040281	ORPHA:231169
64072	CDH23	HP:0001698	Pericardial effusion	HP:0040283	ORPHA:91347
64072	CDH23	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:96253
64072	CDH23	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:96253
64072	CDH23	HP:0002953	Vertebral compression fracture	HP:0040283	ORPHA:96253
64072	CDH23	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:91347
64072	CDH23	HP:0007942	Internal ophthalmoplegia	HP:0040283	ORPHA:91347
64072	CDH23	HP:0007942	Internal ophthalmoplegia	HP:0040283	ORPHA:2965
64072	CDH23	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:231169
64072	CDH23	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:96253
64072	CDH23	HP:0001751	Abnormal vestibular function	-	OMIM:601067
64072	CDH23	HP:0001751	Abnormal vestibular function	0/6	OMIM:601386
64072	CDH23	HP:0001756	Vestibular hyporeflexia	HP:0040281	ORPHA:231169
64072	CDH23	HP:0012503	Abnormal pituitary gland morphology	HP:0040281	ORPHA:91347
64072	CDH23	HP:0012503	Abnormal pituitary gland morphology	HP:0040281	ORPHA:2965
64072	CDH23	HP:0012505	Enlarged pituitary gland	HP:0040281	ORPHA:91347
64072	CDH23	HP:0000518	Cataract	HP:0040282	ORPHA:231169
64072	CDH23	HP:0000510	Rod-cone dystrophy	-	OMIM:601067
64072	CDH23	HP:0000510	Rod-cone dystrophy	0/6	OMIM:601386
64072	CDH23	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
64072	CDH23	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:231169
64072	CDH23	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:2965
64072	CDH23	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:91347
64072	CDH23	HP:0001824	Weight loss	HP:0040282	ORPHA:91347
64072	CDH23	HP:0000508	Ptosis	HP:0040283	ORPHA:2965
64072	CDH23	HP:0000508	Ptosis	HP:0040283	ORPHA:91347
64072	CDH23	HP:0000575	Scotoma	HP:0040281	ORPHA:231169
64072	CDH23	HP:0000575	Scotoma	5/18	OMIM:180100
64072	CDH23	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:96253
64072	CDH23	HP:0000572	Visual loss	HP:0040281	ORPHA:231169
64072	CDH23	HP:0000543	Optic disc pallor	1/1	OMIM:180100
64072	CDH23	HP:0000545	Myopia	-	OMIM:180100
64087	MCCC2	HP:0010911	Hyperleucinemia	2/5	OMIM:210210
64087	MCCC2	HP:0001290	Generalized hypotonia	-	OMIM:210210
64087	MCCC2	HP:0001254	Lethargy	-	OMIM:210210
64087	MCCC2	HP:0001250	Seizure	1/5	OMIM:210210
64087	MCCC2	HP:0001252	Hypotonia	-	OMIM:210210
64087	MCCC2	HP:0001252	Hypotonia	HP:0040281	ORPHA:6
64087	MCCC2	HP:0001249	Intellectual disability	1/5	OMIM:210210
64087	MCCC2	HP:0001263	Global developmental delay	20/20	OMIM:210210
64087	MCCC2	HP:0001257	Spasticity	HP:0040283	ORPHA:6
64087	MCCC2	HP:0001259	Coma	-	OMIM:210210
64087	MCCC2	HP:0001347	Hyperreflexia	-	OMIM:210210
64087	MCCC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:210210
64087	MCCC2	HP:0003353	Propionyl-CoA carboxylase deficiency	-	OMIM:210210
64087	MCCC2	HP:0002013	Vomiting	-	OMIM:210210
64087	MCCC2	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:6
64087	MCCC2	HP:0002179	Opisthotonus	-	OMIM:210210
64087	MCCC2	HP:0008281	Acute hyperammonemia	-	OMIM:210210
64087	MCCC2	HP:0003593	Infantile onset	4/5	OMIM:210210
64087	MCCC2	HP:0011968	Feeding difficulties	-	OMIM:210210
64087	MCCC2	HP:0001051	Seborrheic dermatitis	-	OMIM:210210
64087	MCCC2	HP:0100659	Abnormal cerebral vascular morphology	HP:0040283	ORPHA:6
64087	MCCC2	HP:0003621	Juvenile onset	1/5	OMIM:210210
64087	MCCC2	HP:0001943	Hypoglycemia	-	OMIM:210210
64087	MCCC2	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:6
64087	MCCC2	HP:0001942	Metabolic acidosis	-	OMIM:210210
64087	MCCC2	HP:0001993	Ketoacidosis	-	OMIM:210210
64087	MCCC2	HP:0001992	Organic aciduria	HP:0040281	ORPHA:6
64087	MCCC2	HP:0001992	Organic aciduria	-	OMIM:210210
64087	MCCC2	HP:0001987	Hyperammonemia	2/5	OMIM:210210
64087	MCCC2	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:6
64087	MCCC2	HP:0004357	Abnormal circulating leucine concentration	HP:0040281	ORPHA:6
64087	MCCC2	HP:0100021	Cerebral palsy	1/5	OMIM:210210
64087	MCCC2	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:6
64087	MCCC2	HP:0003108	Hyperglycinuria	-	OMIM:210210
64087	MCCC2	HP:0003234	Decreased circulating carnitine concentration	3/5	OMIM:210210
64087	MCCC2	HP:0003202	Skeletal muscle atrophy	-	OMIM:210210
64087	MCCC2	HP:0001596	Alopecia	-	OMIM:210210
64087	MCCC2	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:6
64087	MCCC2	HP:0001508	Failure to thrive	1/5	OMIM:210210
64087	MCCC2	HP:0002919	Ketonuria	-	OMIM:210210
64091	POPDC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
64091	POPDC2	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
64091	POPDC2	HP:0001664	Torsade de pointes	1/46	OMIM:115000
64091	POPDC2	HP:0001645	Sudden cardiac death	-	OMIM:115000
64091	POPDC2	HP:0001663	Ventricular fibrillation	-	OMIM:115000
64091	POPDC2	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
64091	POPDC2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
64093	SMOC1	HP:0001172	Abnormal thumb morphology	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0001162	Postaxial hand polydactyly	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0001162	Postaxial hand polydactyly	-	OMIM:206920
64093	SMOC1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0001249	Intellectual disability	-	OMIM:206920
64093	SMOC1	HP:0001263	Global developmental delay	3/4	OMIM:206920
64093	SMOC1	HP:0001241	Capitate-hamate fusion	1/4	OMIM:206920
64093	SMOC1	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:1106
64093	SMOC1	HP:0001215	Camptodactyly of 2nd-5th fingers	2/4	OMIM:206920
64093	SMOC1	HP:0001215	Camptodactyly of 2nd-5th fingers	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0008897	Postnatal growth retardation	-	OMIM:206920
64093	SMOC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:206920
64093	SMOC1	HP:0000175	Cleft palate	-	OMIM:206920
64093	SMOC1	HP:0000175	Cleft palate	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0001440	Metatarsal synostosis	2/4	OMIM:206920
64093	SMOC1	HP:0002002	Deep philtrum	-	OMIM:206920
64093	SMOC1	HP:0002007	Frontal bossing	-	OMIM:206920
64093	SMOC1	HP:0002007	Frontal bossing	HP:0040281	ORPHA:1106
64093	SMOC1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0005916	Abnormal metacarpal morphology	HP:0040281	ORPHA:1106
64093	SMOC1	HP:0002139	Arrhinencephaly	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0003577	Congenital onset	4/4	OMIM:206920
64093	SMOC1	HP:0009748	Large earlobe	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0010715	2-5 toe syndactyly	1/4	OMIM:206920
64093	SMOC1	HP:0008368	Tarsal synostosis	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0010650	Hypoplasia of the premaxilla	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0011304	Broad thumb	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0004322	Short stature	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0003038	Fibular hypoplasia	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0003038	Fibular hypoplasia	2/4	OMIM:206920
64093	SMOC1	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0003026	Short long bone	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0012745	Short palpebral fissure	-	OMIM:206920
64093	SMOC1	HP:0012741	Unilateral cryptorchidism	1/2	OMIM:206920
64093	SMOC1	HP:0011478	True anophthalmia	HP:0040281	ORPHA:1106
64093	SMOC1	HP:0005736	Short tibia	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0005709	2-3 toe cutaneous syndactyly	2/4	OMIM:206920
64093	SMOC1	HP:0003196	Short nose	-	OMIM:206920
64093	SMOC1	HP:0005867	4-5 metacarpal synostosis	3/4	OMIM:206920
64093	SMOC1	HP:0000954	Single transverse palmar crease	3/4	OMIM:206920
64093	SMOC1	HP:0000960	Sacral dimple	1/4	OMIM:206920
64093	SMOC1	HP:0100240	Synostosis of joints	HP:0040281	ORPHA:1106
64093	SMOC1	HP:0008081	Pes valgus	1/4	OMIM:206920
64093	SMOC1	HP:0009380	Finger aplasia	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0009380	Finger aplasia	-	OMIM:206920
64093	SMOC1	HP:0011671	Interrupted inferior vena cava with azygous continuation	-	OMIM:206920
64093	SMOC1	HP:0000278	Retrognathia	-	OMIM:206920
64093	SMOC1	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:1106
64093	SMOC1	HP:0002814	Abnormality of the lower limb	HP:0040281	ORPHA:1106
64093	SMOC1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0002827	Hip dislocation	-	OMIM:206920
64093	SMOC1	HP:0005048	Synostosis of carpal bones	HP:0040281	ORPHA:1106
64093	SMOC1	HP:0001572	Macrodontia	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0000218	High palate	1/4	OMIM:206920
64093	SMOC1	HP:0000218	High palate	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0001522	Death in infancy	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0000204	Cleft upper lip	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0000204	Cleft upper lip	-	OMIM:206920
64093	SMOC1	HP:0001508	Failure to thrive	4/4	OMIM:206920
64093	SMOC1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0001510	Growth delay	-	OMIM:206920
64093	SMOC1	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0000358	Posteriorly rotated ears	-	OMIM:206920
64093	SMOC1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0000369	Low-set ears	-	OMIM:206920
64093	SMOC1	HP:0000343	Long philtrum	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0000347	Micrognathia	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0002982	Tibial bowing	2/4	OMIM:206920
64093	SMOC1	HP:0002982	Tibial bowing	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:1106
64093	SMOC1	HP:0000499	Abnormal eyelash morphology	0/4	OMIM:206920
64093	SMOC1	HP:0005293	Venous insufficiency	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0005280	Depressed nasal bridge	-	OMIM:206920
64093	SMOC1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0000494	Downslanted palpebral fissures	-	OMIM:206920
64093	SMOC1	HP:0000454	Flared nostrils	-	OMIM:206920
64093	SMOC1	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:1106
64093	SMOC1	HP:0001770	Toe syndactyly	-	OMIM:206920
64093	SMOC1	HP:0001762	Talipes equinovarus	-	OMIM:206920
64093	SMOC1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0001849	Foot oligodactyly	13/14	OMIM:206920
64093	SMOC1	HP:0001849	Foot oligodactyly	HP:0040282	ORPHA:1106
64093	SMOC1	HP:0000528	Anophthalmia	4/4	OMIM:206920
64093	SMOC1	HP:0001852	Sandal gap	HP:0040281	ORPHA:1106
64093	SMOC1	HP:0001852	Sandal gap	3/4	OMIM:206920
64093	SMOC1	HP:0001830	Postaxial foot polydactyly	-	OMIM:206920
64093	SMOC1	HP:0001830	Postaxial foot polydactyly	HP:0040283	ORPHA:1106
64093	SMOC1	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:1106
64093	SMOC1	HP:0000581	Blepharophimosis	-	OMIM:206920
64093	SMOC1	HP:0011220	Prominent forehead	HP:0040281	ORPHA:1106
64093	SMOC1	HP:0011220	Prominent forehead	-	OMIM:206920
64093	SMOC1	HP:0000568	Microphthalmia	HP:0040281	ORPHA:1106
64093	SMOC1	HP:0000568	Microphthalmia	-	OMIM:206920
64093	SMOC1	HP:0000534	Abnormal eyebrow morphology	HP:0040281	ORPHA:1106
64094	SMOC2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
64094	SMOC2	HP:0001293	Cranial nerve compression	-	OMIM:131300
64094	SMOC2	HP:0001252	Hypotonia	2/7	OMIM:615777
64094	SMOC2	HP:0001249	Intellectual disability	5/7	OMIM:615777
64094	SMOC2	HP:0001263	Global developmental delay	-	OMIM:615777
64094	SMOC2	HP:0002515	Waddling gait	54/102	OMIM:131300
64094	SMOC2	HP:0001382	Joint hypermobility	-	OMIM:615777
64094	SMOC2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
64094	SMOC2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
64094	SMOC2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
64094	SMOC2	HP:0001324	Muscle weakness	40/96	OMIM:131300
64094	SMOC2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
64094	SMOC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
64094	SMOC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:125400
64094	SMOC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
64094	SMOC2	HP:0002650	Scoliosis	12/14	OMIM:131300
64094	SMOC2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
64094	SMOC2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
64094	SMOC2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
64094	SMOC2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
64094	SMOC2	HP:0000175	Cleft palate	2/7	OMIM:615777
64094	SMOC2	HP:0006350	Pulp obliteration	-	OMIM:125400
64094	SMOC2	HP:0006336	Short dental root	2/2	OMIM:125400
64094	SMOC2	HP:0006297	Enamel hypoplasia	2/2	OMIM:125400
64094	SMOC2	HP:0003388	Easy fatigability	36/76	OMIM:131300
64094	SMOC2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
64094	SMOC2	HP:0003510	Severe short stature	7/7	OMIM:615777
64094	SMOC2	HP:0002315	Headache	-	OMIM:131300
64094	SMOC2	HP:0004976	Knee dislocation	6/7	OMIM:615777
64094	SMOC2	HP:0009803	Short phalanx of finger	-	OMIM:615777
64094	SMOC2	HP:0009763	Limb pain	63/92	OMIM:131300
64094	SMOC2	HP:0003621	Juvenile onset	-	OMIM:131300
64094	SMOC2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
64094	SMOC2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
64094	SMOC2	HP:6001056	Out-toeing	-	OMIM:131300
64094	SMOC2	HP:0000651	Diplopia	-	OMIM:131300
64094	SMOC2	HP:0001956	Truncal obesity	2/7	OMIM:615777
64094	SMOC2	HP:0001903	Anemia	HP:0040283	OMIM:131300
64094	SMOC2	HP:0010049	Short metacarpal	-	OMIM:615777
64094	SMOC2	HP:0000679	Taurodontia	2/2	OMIM:125400
64094	SMOC2	HP:0000678	Dental crowding	-	OMIM:615777
64094	SMOC2	HP:0000677	Oligodontia	2/2	OMIM:125400
64094	SMOC2	HP:0000691	Microdontia	2/2	OMIM:125400
64094	SMOC2	HP:0000670	Carious teeth	-	OMIM:131300
64094	SMOC2	HP:0011304	Broad thumb	2/7	OMIM:615777
64094	SMOC2	HP:0000668	Hypodontia	-	OMIM:615777
64094	SMOC2	HP:0000664	Synophrys	-	OMIM:615777
64094	SMOC2	HP:0004396	Poor appetite	-	OMIM:131300
64094	SMOC2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
64094	SMOC2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
64094	SMOC2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
64094	SMOC2	HP:0003026	Short long bone	7/7	OMIM:615777
64094	SMOC2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
64094	SMOC2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
64094	SMOC2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
64094	SMOC2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
64094	SMOC2	HP:0000750	Delayed speech and language development	-	OMIM:615777
64094	SMOC2	HP:0000700	Periapical bone loss	-	OMIM:125400
64094	SMOC2	HP:0011461	Fetal onset	7/7	OMIM:615777
64094	SMOC2	HP:0000774	Narrow chest	2/7	OMIM:615777
64094	SMOC2	HP:0000926	Platyspondyly	1/7	OMIM:615777
64094	SMOC2	HP:0003180	Flat acetabular roof	-	OMIM:615777
64094	SMOC2	HP:0004482	Relative macrocephaly	-	OMIM:615777
64094	SMOC2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
64094	SMOC2	HP:0000823	Delayed puberty	-	OMIM:131300
64094	SMOC2	HP:0000894	Short clavicles	-	OMIM:615777
64094	SMOC2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
64094	SMOC2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
64094	SMOC2	HP:0000286	Epicanthus	1/7	OMIM:615777
64094	SMOC2	HP:0000280	Coarse facial features	2/7	OMIM:615777
64094	SMOC2	HP:0002827	Hip dislocation	3/7	OMIM:615777
64094	SMOC2	HP:0000252	Microcephaly	-	OMIM:615777
64094	SMOC2	HP:0002857	Genu valgum	-	OMIM:131300
64094	SMOC2	HP:0001533	Slender build	-	OMIM:131300
64094	SMOC2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
64094	SMOC2	HP:0007807	Optic nerve compression	-	OMIM:131300
64094	SMOC2	HP:0012368	Flat face	7/7	OMIM:615777
64094	SMOC2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
64094	SMOC2	HP:0000365	Hearing impairment	10/67	OMIM:131300
64094	SMOC2	HP:0000343	Long philtrum	1/7	OMIM:615777
64094	SMOC2	HP:0011001	Increased bone mineral density	-	OMIM:131300
64094	SMOC2	HP:0000311	Round face	2/7	OMIM:615777
64094	SMOC2	HP:0002970	Genu varum	-	OMIM:615777
64094	SMOC2	HP:0000303	Mandibular prognathia	-	OMIM:131300
64094	SMOC2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
64094	SMOC2	HP:0000470	Short neck	1/7	OMIM:615777
64094	SMOC2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
64094	SMOC2	HP:0001763	Pes planus	1/7	OMIM:615777
64094	SMOC2	HP:0001840	Metatarsus adductus	-	OMIM:615777
64094	SMOC2	HP:0000520	Proptosis	2/4	OMIM:131300
64094	SMOC2	HP:0000520	Proptosis	7/7	OMIM:615777
64094	SMOC2	HP:0000592	Blue sclerae	2/7	OMIM:615777
64094	SMOC2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
64094	SMOC2	HP:0012514	Lower limb pain	4/4	OMIM:131300
64116	SLC39A8	HP:0002490	Increased CSF lactate	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0002465	Poor speech	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0002421	Poor head control	8/8	OMIM:616721
64116	SLC39A8	HP:0002421	Poor head control	HP:0040282	ORPHA:468699
64116	SLC39A8	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:468699
64116	SLC39A8	HP:0001272	Cerebellar atrophy	7/7	OMIM:616721
64116	SLC39A8	HP:0001250	Seizure	HP:0040282	ORPHA:468699
64116	SLC39A8	HP:0001250	Seizure	2/8	OMIM:616721
64116	SLC39A8	HP:0001252	Hypotonia	8/8	OMIM:616721
64116	SLC39A8	HP:0001249	Intellectual disability	8/8	OMIM:616721
64116	SLC39A8	HP:0001263	Global developmental delay	-	OMIM:616721
64116	SLC39A8	HP:0002540	Inability to walk	HP:0040282	ORPHA:468699
64116	SLC39A8	HP:0002540	Inability to walk	6/8	OMIM:616721
64116	SLC39A8	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0025336	Delayed ability to sit	8/8	OMIM:616721
64116	SLC39A8	HP:0001382	Joint hypermobility	2/8	OMIM:616721
64116	SLC39A8	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0001347	Hyperreflexia	2/8	OMIM:616721
64116	SLC39A8	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0001363	Craniosynostosis	HP:0040283	OMIM:616721
64116	SLC39A8	HP:0008873	Disproportionate short-limb short stature	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0001332	Dystonia	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0000007	Autosomal recessive inheritance	-	OMIM:616721
64116	SLC39A8	HP:0025405	Visual fixation instability	HP:0040282	ORPHA:468699
64116	SLC39A8	HP:0002719	Recurrent infections	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0002719	Recurrent infections	5/8	OMIM:616721
64116	SLC39A8	HP:0002059	Cerebral atrophy	1/7	OMIM:616721
64116	SLC39A8	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:468699
64116	SLC39A8	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0002187	Intellectual disability, profound	5/8	OMIM:616721
64116	SLC39A8	HP:0002187	Intellectual disability, profound	HP:0040281	ORPHA:468699
64116	SLC39A8	HP:0008277	Abnormal blood zinc concentration	HP:0040281	ORPHA:468699
64116	SLC39A8	HP:0003577	Congenital onset	-	OMIM:616721
64116	SLC39A8	HP:0032098	Hypomanganesemia	HP:0040281	ORPHA:468699
64116	SLC39A8	HP:0008347	Decreased activity of mitochondrial complex IV	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0010621	Cutaneous syndactyly of toes	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0008314	Decreased activity of mitochondrial complex II	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0009826	Limb undergrowth	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0006855	Cerebellar vermis atrophy	7/7	OMIM:616721
64116	SLC39A8	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:468699
64116	SLC39A8	HP:0000639	Nystagmus	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0000639	Nystagmus	-	OMIM:616721
64116	SLC39A8	HP:0004322	Short stature	HP:0040282	ORPHA:468699
64116	SLC39A8	HP:0004322	Short stature	3/8	OMIM:616721
64116	SLC39A8	HP:0012736	Profound global developmental delay	HP:0040281	ORPHA:468699
64116	SLC39A8	HP:0012707	Elevated brain lactate level by MRS	1/2	OMIM:616721
64116	SLC39A8	HP:0000938	Osteopenia	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0000938	Osteopenia	2/3	OMIM:616721
64116	SLC39A8	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0002882	Sudden episodic apnea	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:468699
64116	SLC39A8	HP:0012368	Flat face	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0006558	Decreased mitochondrial complex III activity in liver tissue	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0000365	Hearing impairment	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0000365	Hearing impairment	HP:0040283	OMIM:616721
64116	SLC39A8	HP:0000369	Low-set ears	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0012301	Type II transferrin isoform profile	HP:0040281	ORPHA:468699
64116	SLC39A8	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0000483	Astigmatism	-	OMIM:616721
64116	SLC39A8	HP:0000483	Astigmatism	HP:0040283	ORPHA:468699
64116	SLC39A8	HP:0000486	Strabismus	HP:0040282	ORPHA:468699
64116	SLC39A8	HP:0000486	Strabismus	7/8	OMIM:616721
64116	SLC39A8	HP:0000540	Hypermetropia	HP:0040283	ORPHA:468699
64121	RRAGC	HP:0002416	Subependymal cysts	1/3	OMIM:620609
64121	RRAGC	HP:0003819	Death in childhood	1/1	OMIM:620609
64121	RRAGC	HP:0000006	Autosomal dominant inheritance	-	OMIM:620609
64121	RRAGC	HP:0001302	Pachygyria	1/3	OMIM:620609
64121	RRAGC	HP:0030961	Microspherophakia	1/3	OMIM:620609
64121	RRAGC	HP:0002151	Increased circulating lactate concentration	4/4	OMIM:620609
64121	RRAGC	HP:0002126	Polymicrogyria	1/3	OMIM:620609
64121	RRAGC	HP:0003593	Infantile onset	2/3	OMIM:620609
64121	RRAGC	HP:0011968	Feeding difficulties	1/3	OMIM:620609
64121	RRAGC	HP:0002389	Cavum septum pellucidum	2/3	OMIM:620609
64121	RRAGC	HP:0003623	Neonatal onset	1/3	OMIM:620609
64121	RRAGC	HP:0001943	Hypoglycemia	1/1	OMIM:620609
64121	RRAGC	HP:0000609	Optic nerve hypoplasia	1/3	OMIM:620609
64121	RRAGC	HP:0012666	Severely reduced left ventricular ejection fraction	4/4	OMIM:620609
64121	RRAGC	HP:0001987	Hyperammonemia	1/3	OMIM:620609
64121	RRAGC	HP:0031956	Elevated circulating aspartate aminotransferase concentration	4/4	OMIM:620609
64121	RRAGC	HP:0031964	Elevated circulating alanine aminotransferase concentration	4/4	OMIM:620609
64121	RRAGC	HP:0034197	Third trimester onset	1/1	OMIM:620609
64121	RRAGC	HP:0000256	Macrocephaly	1/1	OMIM:620609
64121	RRAGC	HP:0001508	Failure to thrive	1/1	OMIM:620609
64121	RRAGC	HP:0000369	Low-set ears	1/4	OMIM:620609
64121	RRAGC	HP:0001684	Secundum atrial septal defect	1/3	OMIM:620609
64121	RRAGC	HP:0000316	Hypertelorism	1/4	OMIM:620609
64121	RRAGC	HP:0001644	Dilated cardiomyopathy	3/3	OMIM:620609
64121	RRAGC	HP:0001629	Ventricular septal defect	1/3	OMIM:620609
64121	RRAGC	HP:0001640	Cardiomegaly	1/1	OMIM:620609
64121	RRAGC	HP:0001635	Congestive heart failure	4/4	OMIM:620609
64121	RRAGC	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:620609
64121	RRAGC	HP:0001790	Nonimmune hydrops fetalis	2/4	OMIM:620609
64121	RRAGC	HP:0001788	Premature rupture of membranes	1/3	OMIM:620609
64121	RRAGC	HP:0000518	Cataract	2/4	OMIM:620609
64121	RRAGC	HP:0011220	Prominent forehead	1/1	OMIM:620609
64127	NOD2	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:90340
64127	NOD2	HP:0001101	Iritis	3/11	OMIM:186580
64127	NOD2	HP:0001291	Abnormal cranial nerve morphology	HP:0040283	ORPHA:90340
64127	NOD2	HP:0001291	Abnormal cranial nerve morphology	-	OMIM:186580
64127	NOD2	HP:0100819	Intestinal fistula	-	OMIM:266600
64127	NOD2	HP:0025230	Tendonitis	-	OMIM:186580
64127	NOD2	HP:0007432	Intermittent generalized erythematous papular rash	42/44	OMIM:186580
64127	NOD2	HP:0010982	Polygenic inheritance	-	OMIM:266600
64127	NOD2	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:90340
64127	NOD2	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:90340
64127	NOD2	HP:0001369	Arthritis	61/66	OMIM:186580
64127	NOD2	HP:0001369	Arthritis	41/52	OMIM:617321
64127	NOD2	HP:0001369	Arthritis	HP:0040282	ORPHA:90340
64127	NOD2	HP:0001386	Joint swelling	HP:0040281	ORPHA:90340
64127	NOD2	HP:0001386	Joint swelling	-	OMIM:186580
64127	NOD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:186580
64127	NOD2	HP:0000155	Oral ulcer	14/52	OMIM:617321
64127	NOD2	HP:0012123	Posterior uveitis	HP:0040281	ORPHA:90340
64127	NOD2	HP:0001426	Non-Mendelian inheritance	-	OMIM:617321
64127	NOD2	HP:0000112	Nephropathy	HP:0040283	ORPHA:90340
64127	NOD2	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:90340
64127	NOD2	HP:0002037	Inflammation of the large intestine	-	OMIM:266600
64127	NOD2	HP:0002027	Abdominal pain	34/52	OMIM:617321
64127	NOD2	HP:0002027	Abdominal pain	-	OMIM:266600
64127	NOD2	HP:0003326	Myalgia	19/54	OMIM:617321
64127	NOD2	HP:0002014	Diarrhea	34/52	OMIM:617321
64127	NOD2	HP:0002014	Diarrhea	-	OMIM:266600
64127	NOD2	HP:0002099	Asthma	-	OMIM:617321
64127	NOD2	HP:0002094	Dyspnea	HP:0040283	ORPHA:90340
64127	NOD2	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:90340
64127	NOD2	HP:0002102	Pleuritis	-	OMIM:617321
64127	NOD2	HP:0100490	Camptodactyly of finger	17/20	OMIM:186580
64127	NOD2	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:90340
64127	NOD2	HP:0003565	Elevated erythrocyte sedimentation rate	14/48	OMIM:617321
64127	NOD2	HP:0100769	Synovitis	-	OMIM:186580
64127	NOD2	HP:0100769	Synovitis	HP:0040281	ORPHA:90340
64127	NOD2	HP:0100749	Chest pain	12/74	OMIM:617321
64127	NOD2	HP:0010628	Facial palsy	HP:0040283	ORPHA:90340
64127	NOD2	HP:0100654	Retrobulbar optic neuritis	HP:0040283	ORPHA:90340
64127	NOD2	HP:0200034	Papule	HP:0040281	ORPHA:90340
64127	NOD2	HP:0001097	Keratoconjunctivitis sicca	9/22	OMIM:617321
64127	NOD2	HP:0001094	Iridocyclitis	HP:0040281	ORPHA:90340
64127	NOD2	HP:0200042	Skin ulcer	-	OMIM:186580
64127	NOD2	HP:0200042	Skin ulcer	HP:0040283	ORPHA:90340
64127	NOD2	HP:0010783	Erythema	HP:0040281	ORPHA:90340
64127	NOD2	HP:0032154	Aphthous ulcer	-	OMIM:266600
64127	NOD2	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:90340
64127	NOD2	HP:0000613	Photophobia	HP:0040282	ORPHA:90340
64127	NOD2	HP:0001945	Fever	HP:0040282	ORPHA:90340
64127	NOD2	HP:0000610	Abnormal choroid morphology	HP:0040283	ORPHA:90340
64127	NOD2	HP:0001954	Recurrent fever	48/74	OMIM:617321
64127	NOD2	HP:0001903	Anemia	HP:0040283	ORPHA:90340
64127	NOD2	HP:0012647	Abnormal inflammatory response	HP:0040281	ORPHA:90340
64127	NOD2	HP:0000787	Nephrolithiasis	-	OMIM:617321
64127	NOD2	HP:0005764	Polyarticular arthritis	HP:0040281	ORPHA:90340
64127	NOD2	HP:0011505	Cystoid macular edema	-	OMIM:186580
64127	NOD2	HP:0000822	Hypertension	HP:0040283	ORPHA:90340
64127	NOD2	HP:0000822	Hypertension	4/45	OMIM:186580
64127	NOD2	HP:0010286	Abnormal salivary gland morphology	HP:0040283	ORPHA:90340
64127	NOD2	HP:0005830	Flexion contracture of toe	-	OMIM:186580
64127	NOD2	HP:0100280	Crohn's disease	-	OMIM:266600
64127	NOD2	HP:0100279	Ulcerative colitis	-	OMIM:266600
64127	NOD2	HP:0000988	Skin rash	49/54	OMIM:617321
64127	NOD2	HP:0000988	Skin rash	HP:0040281	ORPHA:90340
64127	NOD2	HP:0000958	Dry skin	HP:0040282	ORPHA:90340
64127	NOD2	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:90340
64127	NOD2	HP:0000964	Eczematoid dermatitis	-	OMIM:186580
64127	NOD2	HP:0008064	Ichthyosis	HP:0040283	ORPHA:90340
64127	NOD2	HP:0008046	Abnormal retinal vascular morphology	HP:0040283	ORPHA:90340
64127	NOD2	HP:0002829	Arthralgia	-	OMIM:617321
64127	NOD2	HP:0002829	Arthralgia	HP:0040281	ORPHA:90340
64127	NOD2	HP:0012219	Erythema nodosum	HP:0040282	ORPHA:90340
64127	NOD2	HP:0012219	Erythema nodosum	3/45	OMIM:186580
64127	NOD2	HP:0000217	Xerostomia	HP:0040283	ORPHA:90340
64127	NOD2	HP:0000217	Xerostomia	-	OMIM:617321
64127	NOD2	HP:0001510	Growth delay	-	OMIM:266600
64127	NOD2	HP:0007813	Nongranulomatous uveitis	-	OMIM:186580
64127	NOD2	HP:0005214	Intestinal obstruction	-	OMIM:266600
64127	NOD2	HP:0005310	Large vessel vasculitis	HP:0040283	ORPHA:90340
64127	NOD2	HP:0001701	Pericarditis	HP:0040283	ORPHA:90340
64127	NOD2	HP:0001701	Pericarditis	2/45	OMIM:186580
64127	NOD2	HP:0001701	Pericarditis	-	OMIM:617321
64127	NOD2	HP:0001714	Ventricular hypertrophy	-	OMIM:617321
64127	NOD2	HP:0000491	Keratitis	HP:0040281	ORPHA:90340
64127	NOD2	HP:0000488	Retinopathy	HP:0040283	ORPHA:90340
64127	NOD2	HP:0011123	Inflammatory abnormality of the skin	29/32	OMIM:617321
64127	NOD2	HP:0011107	Recurrent aphthous stomatitis	-	OMIM:266600
64127	NOD2	HP:0001744	Splenomegaly	HP:0040283	ORPHA:90340
64127	NOD2	HP:0006770	Clear cell renal cell carcinoma	HP:0040283	ORPHA:90340
64127	NOD2	HP:0000518	Cataract	HP:0040282	ORPHA:90340
64127	NOD2	HP:0000518	Cataract	-	OMIM:186580
64127	NOD2	HP:0001824	Weight loss	35/76	OMIM:617321
64127	NOD2	HP:0001824	Weight loss	-	OMIM:266600
64127	NOD2	HP:0000501	Glaucoma	-	OMIM:186580
64127	NOD2	HP:0000501	Glaucoma	HP:0040282	ORPHA:90340
64127	NOD2	HP:0000598	Abnormality of the ear	-	OMIM:186580
64127	NOD2	HP:0000585	Band keratopathy	-	OMIM:186580
64127	NOD2	HP:0000587	Abnormal optic nerve morphology	HP:0040283	ORPHA:90340
64127	NOD2	HP:0000554	Uveitis	39/54	OMIM:186580
64127	NOD2	HP:0000554	Uveitis	0/22	OMIM:617321
64127	NOD2	HP:0000572	Visual loss	HP:0040283	ORPHA:90340
64131	XYLT1	HP:0001156	Brachydactyly	-	OMIM:143095
64131	XYLT1	HP:0025115	Civatte bodies	HP:0040284	OMIM:264800
64131	XYLT1	HP:0009882	Short distal phalanx of finger	-	OMIM:143095
64131	XYLT1	HP:0008551	Microtia	-	OMIM:143095
64131	XYLT1	HP:0001102	Angioid streaks of the fundus	38/40	OMIM:264800
64131	XYLT1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
64131	XYLT1	HP:0001297	Stroke	3/67	OMIM:264800
64131	XYLT1	HP:0001293	Cranial nerve compression	-	OMIM:131300
64131	XYLT1	HP:0100817	Renovascular hypertension	HP:0040283	OMIM:264800
64131	XYLT1	HP:0001256	Intellectual disability, mild	-	OMIM:259770
64131	XYLT1	HP:0001252	Hypotonia	-	OMIM:259770
64131	XYLT1	HP:0001252	Hypotonia	2/7	OMIM:615777
64131	XYLT1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1425
64131	XYLT1	HP:0001249	Intellectual disability	0/9	OMIM:143095
64131	XYLT1	HP:0001249	Intellectual disability	3/20	OMIM:150250
64131	XYLT1	HP:0001249	Intellectual disability	5/7	OMIM:615777
64131	XYLT1	HP:0001263	Global developmental delay	1/1	OMIM:612394
64131	XYLT1	HP:0001263	Global developmental delay	-	OMIM:615777
64131	XYLT1	HP:0100864	Short femoral neck	-	OMIM:143095
64131	XYLT1	HP:0100864	Short femoral neck	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0006067	Multiple carpal ossification centers	-	OMIM:143095
64131	XYLT1	HP:0006067	Multiple carpal ossification centers	-	OMIM:150250
64131	XYLT1	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:143095
64131	XYLT1	HP:0003883	Tapered humerus	3/16	OMIM:150250
64131	XYLT1	HP:0001222	Spatulate thumbs	17/18	OMIM:150250
64131	XYLT1	HP:0002515	Waddling gait	54/102	OMIM:131300
64131	XYLT1	HP:0002515	Waddling gait	-	OMIM:143095
64131	XYLT1	HP:0003834	Shoulder dislocation	-	OMIM:143095
64131	XYLT1	HP:0001371	Flexion contracture	-	OMIM:143095
64131	XYLT1	HP:0001373	Joint dislocation	-	OMIM:143095
64131	XYLT1	HP:0001373	Joint dislocation	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0001382	Joint hypermobility	-	OMIM:259770
64131	XYLT1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0001382	Joint hypermobility	-	OMIM:150250
64131	XYLT1	HP:0001382	Joint hypermobility	-	OMIM:615777
64131	XYLT1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:1425
64131	XYLT1	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
64131	XYLT1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
64131	XYLT1	HP:0000028	Cryptorchidism	-	OMIM:150250
64131	XYLT1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
64131	XYLT1	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
64131	XYLT1	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:1425
64131	XYLT1	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
64131	XYLT1	HP:0003994	Dislocated wrist	-	OMIM:150250
64131	XYLT1	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
64131	XYLT1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
64131	XYLT1	HP:0001324	Muscle weakness	40/96	OMIM:131300
64131	XYLT1	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:143095
64131	XYLT1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
64131	XYLT1	HP:0002673	Coxa valga	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0002673	Coxa valga	HP:0040282	ORPHA:1425
64131	XYLT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:264800
64131	XYLT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
64131	XYLT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:143095
64131	XYLT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
64131	XYLT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
64131	XYLT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:150250
64131	XYLT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
64131	XYLT1	HP:0002650	Scoliosis	1/5	OMIM:259770
64131	XYLT1	HP:0002650	Scoliosis	1/1	OMIM:612394
64131	XYLT1	HP:0002650	Scoliosis	HP:0040282	ORPHA:1425
64131	XYLT1	HP:0002650	Scoliosis	9/9	OMIM:143095
64131	XYLT1	HP:0002650	Scoliosis	12/14	OMIM:131300
64131	XYLT1	HP:0002650	Scoliosis	12/20	OMIM:150250
64131	XYLT1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
64131	XYLT1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
64131	XYLT1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
64131	XYLT1	HP:0008905	Rhizomelia	-	OMIM:143095
64131	XYLT1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
64131	XYLT1	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
64131	XYLT1	HP:0000175	Cleft palate	HP:0040283	ORPHA:370930
64131	XYLT1	HP:0000175	Cleft palate	3/20	OMIM:150250
64131	XYLT1	HP:0000175	Cleft palate	2/7	OMIM:615777
64131	XYLT1	HP:0007663	Reduced visual acuity	50/195	OMIM:264800
64131	XYLT1	HP:0500011	Moon facies	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0007598	Bilateral single transverse palmar creases	-	OMIM:143095
64131	XYLT1	HP:0002780	Bronchomalacia	-	OMIM:150250
64131	XYLT1	HP:0002779	Tracheomalacia	-	OMIM:150250
64131	XYLT1	HP:0002777	Tracheal stenosis	-	OMIM:150250
64131	XYLT1	HP:0002757	Recurrent fractures	4/5	OMIM:259770
64131	XYLT1	HP:0002756	Pathologic fracture	-	OMIM:259770
64131	XYLT1	HP:0002756	Pathologic fracture	1/1	OMIM:612394
64131	XYLT1	HP:0032553	Weak pulse	1/16	OMIM:264800
64131	XYLT1	HP:0002751	Kyphoscoliosis	-	OMIM:143095
64131	XYLT1	HP:0002751	Kyphoscoliosis	-	OMIM:259770
64131	XYLT1	HP:0002750	Delayed skeletal maturation	-	OMIM:143095
64131	XYLT1	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
64131	XYLT1	HP:0003366	Abnormal femoral neck/head morphology	HP:0040281	ORPHA:1425
64131	XYLT1	HP:0002007	Frontal bossing	-	OMIM:150250
64131	XYLT1	HP:0003304	Spondylolysis	-	OMIM:150250
64131	XYLT1	HP:0003301	Irregular vertebral endplates	-	OMIM:143095
64131	XYLT1	HP:0011800	Midface retrusion	19/20	OMIM:150250
64131	XYLT1	HP:0002092	Pulmonary arterial hypertension	-	OMIM:143095
64131	XYLT1	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
64131	XYLT1	HP:0003388	Easy fatigability	36/76	OMIM:131300
64131	XYLT1	HP:0010446	Tricuspid stenosis	-	OMIM:143095
64131	XYLT1	HP:0008127	Bipartite calcaneus	-	OMIM:150250
64131	XYLT1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
64131	XYLT1	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
64131	XYLT1	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
64131	XYLT1	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
64131	XYLT1	HP:0003417	Coronal cleft vertebrae	-	OMIM:143095
64131	XYLT1	HP:0002194	Delayed gross motor development	-	OMIM:143095
64131	XYLT1	HP:0002164	Nail dysplasia	1/1	OMIM:612394
64131	XYLT1	HP:0002176	Spinal cord compression	-	OMIM:150250
64131	XYLT1	HP:0100490	Camptodactyly of finger	-	OMIM:143095
64131	XYLT1	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1425
64131	XYLT1	HP:0010557	Overlapping fingers	1/2	OMIM:612394
64131	XYLT1	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
64131	XYLT1	HP:0010585	Small epiphyses	9/9	OMIM:143095
64131	XYLT1	HP:0003593	Infantile onset	1/5	OMIM:259770
64131	XYLT1	HP:0003593	Infantile onset	9/9	OMIM:143095
64131	XYLT1	HP:0003577	Congenital onset	4/5	OMIM:259770
64131	XYLT1	HP:0003577	Congenital onset	6/6	OMIM:143095
64131	XYLT1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0002239	Gastrointestinal hemorrhage	5/16	OMIM:264800
64131	XYLT1	HP:0002208	Coarse hair	1/1	OMIM:612394
64131	XYLT1	HP:0003510	Severe short stature	7/7	OMIM:615777
64131	XYLT1	HP:0003510	Severe short stature	HP:0040281	ORPHA:1425
64131	XYLT1	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
64131	XYLT1	HP:0025019	Arterial rupture	1/1	OMIM:612394
64131	XYLT1	HP:0001061	Acne	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0001027	Soft, doughy skin	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0001007	Hirsutism	HP:0040283	ORPHA:370930
64131	XYLT1	HP:0002315	Headache	-	OMIM:131300
64131	XYLT1	HP:0004976	Knee dislocation	16/20	OMIM:150250
64131	XYLT1	HP:0004976	Knee dislocation	6/6	OMIM:143095
64131	XYLT1	HP:0004976	Knee dislocation	6/7	OMIM:615777
64131	XYLT1	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
64131	XYLT1	HP:0009803	Short phalanx of finger	-	OMIM:143095
64131	XYLT1	HP:0009803	Short phalanx of finger	-	OMIM:615777
64131	XYLT1	HP:0001089	Iris atrophy	-	OMIM:259770
64131	XYLT1	HP:0200055	Small hand	HP:0040282	ORPHA:1425
64131	XYLT1	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:143095
64131	XYLT1	HP:0010743	Short metatarsal	-	OMIM:150250
64131	XYLT1	HP:0009763	Limb pain	63/92	OMIM:131300
64131	XYLT1	HP:0008434	Hypoplastic cervical vertebrae	-	OMIM:150250
64131	XYLT1	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
64131	XYLT1	HP:0003621	Juvenile onset	-	OMIM:131300
64131	XYLT1	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
64131	XYLT1	HP:0004943	Accelerated atherosclerosis	-	OMIM:264800
64131	XYLT1	HP:0004942	Aortic aneurysm	-	OMIM:150250
64131	XYLT1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
64131	XYLT1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1425
64131	XYLT1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
64131	XYLT1	HP:0004232	Accessory carpal bones	-	OMIM:150250
64131	XYLT1	HP:6001056	Out-toeing	-	OMIM:131300
64131	XYLT1	HP:0000651	Diplopia	-	OMIM:131300
64131	XYLT1	HP:0000618	Blindness	5/5	OMIM:259770
64131	XYLT1	HP:0001956	Truncal obesity	2/7	OMIM:615777
64131	XYLT1	HP:0001956	Truncal obesity	HP:0040283	ORPHA:370930
64131	XYLT1	HP:0000608	Macular degeneration	5/40	OMIM:264800
64131	XYLT1	HP:0001903	Anemia	HP:0040283	OMIM:131300
64131	XYLT1	HP:0010049	Short metacarpal	-	OMIM:143095
64131	XYLT1	HP:0010049	Short metacarpal	-	OMIM:615777
64131	XYLT1	HP:0010049	Short metacarpal	-	OMIM:150250
64131	XYLT1	HP:0000684	Delayed eruption of teeth	-	OMIM:143095
64131	XYLT1	HP:0000678	Dental crowding	-	OMIM:615777
64131	XYLT1	HP:0000691	Microdontia	-	OMIM:143095
64131	XYLT1	HP:0000687	Widely spaced teeth	-	OMIM:143095
64131	XYLT1	HP:0000670	Carious teeth	-	OMIM:131300
64131	XYLT1	HP:0011304	Broad thumb	2/7	OMIM:615777
64131	XYLT1	HP:0011304	Broad thumb	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0000668	Hypodontia	-	OMIM:615777
64131	XYLT1	HP:0000668	Hypodontia	-	OMIM:150250
64131	XYLT1	HP:0000667	Phthisis bulbi	-	OMIM:259770
64131	XYLT1	HP:0000664	Synophrys	-	OMIM:615777
64131	XYLT1	HP:0000664	Synophrys	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0004322	Short stature	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0004322	Short stature	-	OMIM:259770
64131	XYLT1	HP:0004322	Short stature	15/15	OMIM:143095
64131	XYLT1	HP:0004322	Short stature	14/20	OMIM:150250
64131	XYLT1	HP:0005616	Accelerated skeletal maturation	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0005616	Accelerated skeletal maturation	HP:0040281	ORPHA:1425
64131	XYLT1	HP:0003071	Flattened epiphysis	-	OMIM:143095
64131	XYLT1	HP:0003083	Dislocated radial head	6/6	OMIM:143095
64131	XYLT1	HP:0004396	Poor appetite	-	OMIM:131300
64131	XYLT1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
64131	XYLT1	HP:0003031	Ulnar bowing	-	OMIM:143095
64131	XYLT1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
64131	XYLT1	HP:0003042	Elbow dislocation	-	OMIM:143095
64131	XYLT1	HP:0003042	Elbow dislocation	HP:0040282	ORPHA:1425
64131	XYLT1	HP:0003042	Elbow dislocation	13/20	OMIM:150250
64131	XYLT1	HP:0003040	Arthropathy	-	OMIM:143095
64131	XYLT1	HP:0003015	Flared metaphysis	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0003016	Metaphyseal widening	-	OMIM:259770
64131	XYLT1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
64131	XYLT1	HP:0003026	Short long bone	7/7	OMIM:615777
64131	XYLT1	HP:0003026	Short long bone	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
64131	XYLT1	HP:0003022	Hypoplasia of the ulna	-	OMIM:143095
64131	XYLT1	HP:0000767	Pectus excavatum	-	OMIM:150250
64131	XYLT1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
64131	XYLT1	HP:0000768	Pectus carinatum	-	OMIM:150250
64131	XYLT1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
64131	XYLT1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
64131	XYLT1	HP:0000750	Delayed speech and language development	-	OMIM:615777
64131	XYLT1	HP:0009179	Deviation of the 5th finger	-	OMIM:143095
64131	XYLT1	HP:0011461	Fetal onset	7/7	OMIM:615777
64131	XYLT1	HP:0011461	Fetal onset	2/2	OMIM:612394
64131	XYLT1	HP:0000774	Narrow chest	2/7	OMIM:615777
64131	XYLT1	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
64131	XYLT1	HP:0004417	Intermittent claudication	2/26	OMIM:264800
64131	XYLT1	HP:0003196	Short nose	1/1	OMIM:612394
64131	XYLT1	HP:0000914	Shield chest	-	OMIM:143095
64131	XYLT1	HP:0000926	Platyspondyly	-	OMIM:259770
64131	XYLT1	HP:0000926	Platyspondyly	1/7	OMIM:615777
64131	XYLT1	HP:0000926	Platyspondyly	1/1	OMIM:612394
64131	XYLT1	HP:0003184	Decreased hip abduction	-	OMIM:143095
64131	XYLT1	HP:0003180	Flat acetabular roof	-	OMIM:615777
64131	XYLT1	HP:0004482	Relative macrocephaly	-	OMIM:615777
64131	XYLT1	HP:0004482	Relative macrocephaly	HP:0040283	ORPHA:370930
64131	XYLT1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
64131	XYLT1	HP:0000885	Broad ribs	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0011506	Choroidal neovascularization	17/50	OMIM:264800
64131	XYLT1	HP:0003093	Limited hip extension	9/9	OMIM:143095
64131	XYLT1	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
64131	XYLT1	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:143095
64131	XYLT1	HP:0000822	Hypertension	19/67	OMIM:264800
64131	XYLT1	HP:0000823	Delayed puberty	-	OMIM:131300
64131	XYLT1	HP:0000894	Short clavicles	-	OMIM:615777
64131	XYLT1	HP:0000894	Short clavicles	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
64131	XYLT1	HP:0004568	Beaking of vertebral bodies	-	OMIM:150250
64131	XYLT1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
64131	XYLT1	HP:0003298	Spina bifida occulta	-	OMIM:150250
64131	XYLT1	HP:0045051	Decreased DLCO	11/35	OMIM:264800
64131	XYLT1	HP:0045075	Sparse eyebrow	-	OMIM:143095
64131	XYLT1	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
64131	XYLT1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:1425
64131	XYLT1	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
64131	XYLT1	HP:0000973	Cutis laxa	7/16	OMIM:264800
64131	XYLT1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
64131	XYLT1	HP:0033026	White oral mucosal macule	-	OMIM:264800
64131	XYLT1	HP:0033027	Retinal peau d'orange	9/9	OMIM:264800
64131	XYLT1	HP:0000939	Osteoporosis	4/5	OMIM:259770
64131	XYLT1	HP:0000938	Osteopenia	1/5	OMIM:259770
64131	XYLT1	HP:0000938	Osteopenia	1/1	OMIM:612394
64131	XYLT1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1425
64131	XYLT1	HP:0008070	Sparse hair	HP:0040282	ORPHA:1425
64131	XYLT1	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
64131	XYLT1	HP:6000970	Diminished sulfotransferase activity in cultured fibroblasts	2/2	OMIM:143095
64131	XYLT1	HP:0000286	Epicanthus	1/7	OMIM:615777
64131	XYLT1	HP:0000280	Coarse facial features	2/7	OMIM:615777
64131	XYLT1	HP:0001591	Bell-shaped thorax	HP:0040281	ORPHA:1425
64131	XYLT1	HP:0000272	Malar flattening	-	OMIM:150250
64131	XYLT1	HP:0000272	Malar flattening	1/1	OMIM:612394
64131	XYLT1	HP:0006471	Fixed elbow flexion	-	OMIM:143095
64131	XYLT1	HP:0006462	Generalized bone demineralization	-	OMIM:143095
64131	XYLT1	HP:0007773	Vitreoretinopathy	-	OMIM:259770
64131	XYLT1	HP:0002816	Genu recurvatum	3/6	OMIM:143095
64131	XYLT1	HP:0002816	Genu recurvatum	HP:0040282	ORPHA:1425
64131	XYLT1	HP:0002812	Coxa vara	HP:0040282	ORPHA:1425
64131	XYLT1	HP:0002829	Arthralgia	-	OMIM:143095
64131	XYLT1	HP:0002827	Hip dislocation	16/20	OMIM:150250
64131	XYLT1	HP:0002827	Hip dislocation	3/7	OMIM:615777
64131	XYLT1	HP:0030084	Clinodactyly	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0002808	Kyphosis	-	OMIM:143095
64131	XYLT1	HP:0002808	Kyphosis	1/5	OMIM:259770
64131	XYLT1	HP:0000252	Microcephaly	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0000252	Microcephaly	-	OMIM:259770
64131	XYLT1	HP:0000252	Microcephaly	-	OMIM:615777
64131	XYLT1	HP:0001552	Barrel-shaped chest	-	OMIM:143095
64131	XYLT1	HP:0001552	Barrel-shaped chest	-	OMIM:259770
64131	XYLT1	HP:0000218	High palate	-	OMIM:143095
64131	XYLT1	HP:0025507	Yellow papule	12/16	OMIM:264800
64131	XYLT1	HP:0002857	Genu valgum	-	OMIM:131300
64131	XYLT1	HP:0002857	Genu valgum	-	OMIM:143095
64131	XYLT1	HP:0001533	Slender build	-	OMIM:131300
64131	XYLT1	HP:0000204	Cleft upper lip	-	OMIM:150250
64131	XYLT1	HP:0001511	Intrauterine growth retardation	-	OMIM:150250
64131	XYLT1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
64131	XYLT1	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
64131	XYLT1	HP:0001510	Growth delay	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0007807	Optic nerve compression	-	OMIM:131300
64131	XYLT1	HP:0012368	Flat face	7/7	OMIM:615777
64131	XYLT1	HP:0012368	Flat face	1/1	OMIM:612394
64131	XYLT1	HP:0012368	Flat face	-	OMIM:150250
64131	XYLT1	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
64131	XYLT1	HP:0007875	Congenital blindness	4/5	OMIM:259770
64131	XYLT1	HP:0007862	Retinal calcification	1/5	OMIM:259770
64131	XYLT1	HP:0002938	Lumbar hyperlordosis	-	OMIM:143095
64131	XYLT1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
64131	XYLT1	HP:0002948	Vertebral fusion	8/16	OMIM:150250
64131	XYLT1	HP:0002947	Cervical kyphosis	-	OMIM:150250
64131	XYLT1	HP:0002945	Intervertebral space narrowing	9/9	OMIM:143095
64131	XYLT1	HP:0005180	Tricuspid regurgitation	-	OMIM:143095
64131	XYLT1	HP:0000365	Hearing impairment	-	OMIM:143095
64131	XYLT1	HP:0000365	Hearing impairment	10/67	OMIM:131300
64131	XYLT1	HP:0000365	Hearing impairment	4/19	OMIM:150250
64131	XYLT1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1425
64131	XYLT1	HP:0000369	Low-set ears	2/2	OMIM:612394
64131	XYLT1	HP:0000343	Long philtrum	HP:0040282	OMIM:143095
64131	XYLT1	HP:0000343	Long philtrum	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0000343	Long philtrum	1/7	OMIM:615777
64131	XYLT1	HP:0011001	Increased bone mineral density	-	OMIM:131300
64131	XYLT1	HP:0000337	Broad forehead	HP:0040282	OMIM:143095
64131	XYLT1	HP:0002999	Patellar dislocation	HP:0040281	ORPHA:1425
64131	XYLT1	HP:0001681	Angina pectoris	-	OMIM:264800
64131	XYLT1	HP:0001677	Coronary artery atherosclerosis	3/67	OMIM:264800
64131	XYLT1	HP:0002982	Tibial bowing	1/5	OMIM:259770
64131	XYLT1	HP:0002982	Tibial bowing	-	OMIM:143095
64131	XYLT1	HP:0001650	Aortic valve stenosis	-	OMIM:143095
64131	XYLT1	HP:0000316	Hypertelorism	-	OMIM:143095
64131	XYLT1	HP:0000316	Hypertelorism	-	OMIM:150250
64131	XYLT1	HP:0000311	Round face	2/7	OMIM:615777
64131	XYLT1	HP:0001642	Pulmonic stenosis	-	OMIM:143095
64131	XYLT1	HP:0002974	Radioulnar synostosis	HP:0040282	ORPHA:1425
64131	XYLT1	HP:0001659	Aortic regurgitation	-	OMIM:143095
64131	XYLT1	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
64131	XYLT1	HP:0001653	Mitral regurgitation	-	OMIM:143095
64131	XYLT1	HP:0001629	Ventricular septal defect	-	OMIM:143095
64131	XYLT1	HP:0001629	Ventricular septal defect	-	OMIM:259770
64131	XYLT1	HP:0001629	Ventricular septal defect	-	OMIM:150250
64131	XYLT1	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:1425
64131	XYLT1	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
64131	XYLT1	HP:0001623	Breech presentation	3/6	OMIM:143095
64131	XYLT1	HP:0002970	Genu varum	-	OMIM:615777
64131	XYLT1	HP:0001635	Congestive heart failure	HP:0040284	OMIM:264800
64131	XYLT1	HP:0000307	Pointed chin	1/2	OMIM:612394
64131	XYLT1	HP:0002967	Cubitus valgus	-	OMIM:143095
64131	XYLT1	HP:0001631	Atrial septal defect	-	OMIM:150250
64131	XYLT1	HP:0000303	Mandibular prognathia	-	OMIM:131300
64131	XYLT1	HP:0001634	Mitral valve prolapse	4/99	OMIM:264800
64131	XYLT1	HP:0007957	Corneal opacity	-	OMIM:150250
64131	XYLT1	HP:0006610	Wide intermamillary distance	-	OMIM:143095
64131	XYLT1	HP:0000499	Abnormal eyelash morphology	HP:0040282	ORPHA:1425
64131	XYLT1	HP:0001723	Restrictive cardiomyopathy	HP:0040284	OMIM:264800
64131	XYLT1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
64131	XYLT1	HP:0000405	Conductive hearing impairment	-	OMIM:150250
64131	XYLT1	HP:0001718	Mitral stenosis	-	OMIM:143095
64131	XYLT1	HP:0001718	Mitral stenosis	HP:0040284	OMIM:264800
64131	XYLT1	HP:0001714	Ventricular hypertrophy	-	OMIM:143095
64131	XYLT1	HP:0005280	Depressed nasal bridge	-	OMIM:150250
64131	XYLT1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
64131	XYLT1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:1425
64131	XYLT1	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0000463	Anteverted nares	1/1	OMIM:612394
64131	XYLT1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:1425
64131	XYLT1	HP:0000470	Short neck	-	OMIM:143095
64131	XYLT1	HP:0000470	Short neck	1/7	OMIM:615777
64131	XYLT1	HP:0000470	Short neck	HP:0040281	ORPHA:1425
64131	XYLT1	HP:0001799	Short nail	-	OMIM:150250
64131	XYLT1	HP:0001772	Talipes equinovalgus	-	OMIM:150250
64131	XYLT1	HP:0012426	Optic disc drusen	-	OMIM:264800
64131	XYLT1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
64131	XYLT1	HP:0001763	Pes planus	-	OMIM:143095
64131	XYLT1	HP:0001763	Pes planus	1/7	OMIM:615777
64131	XYLT1	HP:0001763	Pes planus	HP:0040282	ORPHA:370930
64131	XYLT1	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
64131	XYLT1	HP:0001762	Talipes equinovarus	6/6	OMIM:143095
64131	XYLT1	HP:0001762	Talipes equinovarus	15/20	OMIM:150250
64131	XYLT1	HP:0000518	Cataract	1/5	OMIM:259770
64131	XYLT1	HP:0000518	Cataract	1/1	OMIM:612394
64131	XYLT1	HP:0001840	Metatarsus adductus	-	OMIM:615777
64131	XYLT1	HP:0000520	Proptosis	2/4	OMIM:131300
64131	XYLT1	HP:0000520	Proptosis	7/7	OMIM:615777
64131	XYLT1	HP:0000520	Proptosis	HP:0040283	ORPHA:370930
64131	XYLT1	HP:0000520	Proptosis	HP:0040281	ORPHA:1425
64131	XYLT1	HP:0000505	Visual impairment	7/15	OMIM:264800
64131	XYLT1	HP:0000501	Glaucoma	HP:0040281	ORPHA:1425
64131	XYLT1	HP:0000592	Blue sclerae	2/7	OMIM:615777
64131	XYLT1	HP:0000592	Blue sclerae	HP:0040282	ORPHA:1425
64131	XYLT1	HP:0000586	Shallow orbits	-	OMIM:150250
64131	XYLT1	HP:0000586	Shallow orbits	1/1	OMIM:612394
64131	XYLT1	HP:0011220	Prominent forehead	-	OMIM:150250
64131	XYLT1	HP:0000573	Retinal hemorrhage	-	OMIM:264800
64131	XYLT1	HP:0000568	Microphthalmia	1/5	OMIM:259770
64131	XYLT1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
64131	XYLT1	HP:0012514	Lower limb pain	4/4	OMIM:131300
64131	XYLT1	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
64131	XYLT1	HP:0000545	Myopia	HP:0040283	ORPHA:370930
64131	XYLT1	HP:0000545	Myopia	1/1	OMIM:612394
64132	XYLT2	HP:0001156	Brachydactyly	-	OMIM:143095
64132	XYLT2	HP:0001166	Arachnodactyly	1/2	OMIM:605822
64132	XYLT2	HP:0025115	Civatte bodies	HP:0040284	OMIM:264800
64132	XYLT2	HP:0001123	Visual field defect	-	OMIM:143200
64132	XYLT2	HP:0009882	Short distal phalanx of finger	-	OMIM:143095
64132	XYLT2	HP:0008551	Microtia	-	OMIM:143095
64132	XYLT2	HP:0001102	Angioid streaks of the fundus	38/40	OMIM:264800
64132	XYLT2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
64132	XYLT2	HP:0001297	Stroke	3/67	OMIM:264800
64132	XYLT2	HP:0001293	Cranial nerve compression	-	OMIM:131300
64132	XYLT2	HP:0100807	Long fingers	1/2	OMIM:605822
64132	XYLT2	HP:0100817	Renovascular hypertension	HP:0040283	OMIM:264800
64132	XYLT2	HP:0001270	Motor delay	-	OMIM:156550
64132	XYLT2	HP:0001288	Gait disturbance	-	OMIM:156550
64132	XYLT2	HP:0001256	Intellectual disability, mild	-	OMIM:259770
64132	XYLT2	HP:0001252	Hypotonia	-	OMIM:259770
64132	XYLT2	HP:0001252	Hypotonia	2/7	OMIM:615777
64132	XYLT2	HP:0001249	Intellectual disability	0/9	OMIM:143095
64132	XYLT2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:85194
64132	XYLT2	HP:0001249	Intellectual disability	3/20	OMIM:150250
64132	XYLT2	HP:0001249	Intellectual disability	5/7	OMIM:615777
64132	XYLT2	HP:0001263	Global developmental delay	1/1	OMIM:612394
64132	XYLT2	HP:0001263	Global developmental delay	-	OMIM:615777
64132	XYLT2	HP:0002588	Duodenal ulcer	1/2	OMIM:605822
64132	XYLT2	HP:0100864	Short femoral neck	-	OMIM:143095
64132	XYLT2	HP:0006067	Multiple carpal ossification centers	-	OMIM:143095
64132	XYLT2	HP:0006067	Multiple carpal ossification centers	-	OMIM:150250
64132	XYLT2	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:143095
64132	XYLT2	HP:0003883	Tapered humerus	3/16	OMIM:150250
64132	XYLT2	HP:0001222	Spatulate thumbs	17/18	OMIM:150250
64132	XYLT2	HP:0002515	Waddling gait	54/102	OMIM:131300
64132	XYLT2	HP:0002515	Waddling gait	-	OMIM:143095
64132	XYLT2	HP:0003834	Shoulder dislocation	-	OMIM:143095
64132	XYLT2	HP:0006095	Wide tufts of distal phalanges	-	OMIM:154780
64132	XYLT2	HP:0001376	Limitation of joint mobility	-	OMIM:156550
64132	XYLT2	HP:0001371	Flexion contracture	-	OMIM:143095
64132	XYLT2	HP:0001373	Joint dislocation	-	OMIM:143095
64132	XYLT2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:85194
64132	XYLT2	HP:0001382	Joint hypermobility	-	OMIM:259770
64132	XYLT2	HP:0001382	Joint hypermobility	-	OMIM:150250
64132	XYLT2	HP:0001382	Joint hypermobility	-	OMIM:615777
64132	XYLT2	HP:0012019	Lens luxation	-	OMIM:154780
64132	XYLT2	HP:0000023	Inguinal hernia	-	OMIM:156550
64132	XYLT2	HP:0002684	Thickened calvaria	-	OMIM:154780
64132	XYLT2	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
64132	XYLT2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
64132	XYLT2	HP:0000028	Cryptorchidism	-	OMIM:150250
64132	XYLT2	HP:0002688	Absent frontal sinuses	-	OMIM:154780
64132	XYLT2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
64132	XYLT2	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
64132	XYLT2	HP:0008839	Hypoplastic pelvis	-	OMIM:156550
64132	XYLT2	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
64132	XYLT2	HP:0006172	Flattened, squared-off epiphyses of tubular bones	-	OMIM:156550
64132	XYLT2	HP:0003994	Dislocated wrist	-	OMIM:150250
64132	XYLT2	HP:0002663	Delayed epiphyseal ossification	-	OMIM:156550
64132	XYLT2	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
64132	XYLT2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
64132	XYLT2	HP:0002656	Epiphyseal dysplasia	-	OMIM:184840
64132	XYLT2	HP:0001324	Muscle weakness	1/2	OMIM:605822
64132	XYLT2	HP:0001324	Muscle weakness	40/96	OMIM:131300
64132	XYLT2	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:143095
64132	XYLT2	HP:0002673	Coxa valga	-	OMIM:154780
64132	XYLT2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
64132	XYLT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:605822
64132	XYLT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:264800
64132	XYLT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
64132	XYLT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:143095
64132	XYLT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
64132	XYLT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
64132	XYLT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:154780
64132	XYLT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:150250
64132	XYLT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:156550
64132	XYLT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:143200
64132	XYLT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
64132	XYLT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:184840
64132	XYLT2	HP:0002650	Scoliosis	1/5	OMIM:259770
64132	XYLT2	HP:0002650	Scoliosis	1/1	OMIM:612394
64132	XYLT2	HP:0002650	Scoliosis	9/9	OMIM:143095
64132	XYLT2	HP:0002650	Scoliosis	12/14	OMIM:131300
64132	XYLT2	HP:0002650	Scoliosis	12/20	OMIM:150250
64132	XYLT2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
64132	XYLT2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
64132	XYLT2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
64132	XYLT2	HP:0008905	Rhizomelia	-	OMIM:143095
64132	XYLT2	HP:0008905	Rhizomelia	1/1	OMIM:156550
64132	XYLT2	HP:0000179	Thick lower lip vermilion	-	OMIM:154780
64132	XYLT2	HP:0000193	Bifid uvula	4/9	OMIM:154780
64132	XYLT2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
64132	XYLT2	HP:0000164	Abnormality of the dentition	0/2	OMIM:605822
64132	XYLT2	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
64132	XYLT2	HP:0000175	Cleft palate	-	OMIM:184840
64132	XYLT2	HP:0000175	Cleft palate	1/1	OMIM:156550
64132	XYLT2	HP:0000175	Cleft palate	4/9	OMIM:154780
64132	XYLT2	HP:0000175	Cleft palate	3/20	OMIM:150250
64132	XYLT2	HP:0000175	Cleft palate	2/7	OMIM:615777
64132	XYLT2	HP:0007663	Reduced visual acuity	50/195	OMIM:264800
64132	XYLT2	HP:0007643	Peripheral tractional retinal detachment	-	OMIM:143200
64132	XYLT2	HP:0007598	Bilateral single transverse palmar creases	-	OMIM:143095
64132	XYLT2	HP:0002780	Bronchomalacia	-	OMIM:150250
64132	XYLT2	HP:0002779	Tracheomalacia	-	OMIM:156550
64132	XYLT2	HP:0002779	Tracheomalacia	-	OMIM:150250
64132	XYLT2	HP:0002777	Tracheal stenosis	-	OMIM:150250
64132	XYLT2	HP:0002757	Recurrent fractures	4/5	OMIM:259770
64132	XYLT2	HP:0002756	Pathologic fracture	-	OMIM:259770
64132	XYLT2	HP:0002756	Pathologic fracture	1/1	OMIM:612394
64132	XYLT2	HP:0002753	Thin bony cortex	1/2	OMIM:605822
64132	XYLT2	HP:0032553	Weak pulse	1/16	OMIM:264800
64132	XYLT2	HP:0002751	Kyphoscoliosis	-	OMIM:143095
64132	XYLT2	HP:0002751	Kyphoscoliosis	-	OMIM:259770
64132	XYLT2	HP:0002750	Delayed skeletal maturation	-	OMIM:143095
64132	XYLT2	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
64132	XYLT2	HP:0002007	Frontal bossing	-	OMIM:150250
64132	XYLT2	HP:0003304	Spondylolysis	-	OMIM:150250
64132	XYLT2	HP:0004619	Lumbar kyphoscoliosis	-	OMIM:156550
64132	XYLT2	HP:0003301	Irregular vertebral endplates	-	OMIM:143095
64132	XYLT2	HP:0011800	Midface retrusion	-	OMIM:184840
64132	XYLT2	HP:0011800	Midface retrusion	-	OMIM:156550
64132	XYLT2	HP:0011800	Midface retrusion	9/9	OMIM:154780
64132	XYLT2	HP:0011800	Midface retrusion	19/20	OMIM:150250
64132	XYLT2	HP:0002098	Respiratory distress	-	OMIM:156550
64132	XYLT2	HP:0002092	Pulmonary arterial hypertension	-	OMIM:143095
64132	XYLT2	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
64132	XYLT2	HP:0003388	Easy fatigability	36/76	OMIM:131300
64132	XYLT2	HP:0010446	Tricuspid stenosis	-	OMIM:143095
64132	XYLT2	HP:0008127	Bipartite calcaneus	-	OMIM:150250
64132	XYLT2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
64132	XYLT2	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
64132	XYLT2	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
64132	XYLT2	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
64132	XYLT2	HP:0003417	Coronal cleft vertebrae	-	OMIM:143095
64132	XYLT2	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:156550
64132	XYLT2	HP:0002194	Delayed gross motor development	-	OMIM:143095
64132	XYLT2	HP:0002164	Nail dysplasia	1/1	OMIM:612394
64132	XYLT2	HP:0002162	Low posterior hairline	1/2	OMIM:605822
64132	XYLT2	HP:0002162	Low posterior hairline	HP:0040283	ORPHA:85194
64132	XYLT2	HP:0002176	Spinal cord compression	-	OMIM:150250
64132	XYLT2	HP:0100490	Camptodactyly of finger	-	OMIM:143095
64132	XYLT2	HP:0010557	Overlapping fingers	1/2	OMIM:612394
64132	XYLT2	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
64132	XYLT2	HP:0010511	Long toe	-	OMIM:605822
64132	XYLT2	HP:0010585	Small epiphyses	9/9	OMIM:143095
64132	XYLT2	HP:0008271	Abnormal cartilage collagen	-	OMIM:156550
64132	XYLT2	HP:0010580	Enlarged epiphyses	-	OMIM:184840
64132	XYLT2	HP:0003593	Infantile onset	1/5	OMIM:259770
64132	XYLT2	HP:0003593	Infantile onset	9/9	OMIM:143095
64132	XYLT2	HP:0003577	Congenital onset	2/2	OMIM:605822
64132	XYLT2	HP:0003577	Congenital onset	4/5	OMIM:259770
64132	XYLT2	HP:0003577	Congenital onset	6/6	OMIM:143095
64132	XYLT2	HP:0003577	Congenital onset	1/1	OMIM:156550
64132	XYLT2	HP:0002239	Gastrointestinal hemorrhage	5/16	OMIM:264800
64132	XYLT2	HP:0002208	Coarse hair	1/1	OMIM:612394
64132	XYLT2	HP:0009738	Abnormal antihelix morphology	HP:0040283	ORPHA:85194
64132	XYLT2	HP:0003510	Severe short stature	7/7	OMIM:615777
64132	XYLT2	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:156550
64132	XYLT2	HP:0003521	Disproportionate short-trunk short stature	HP:0040281	ORPHA:85194
64132	XYLT2	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
64132	XYLT2	HP:0025019	Arterial rupture	1/1	OMIM:612394
64132	XYLT2	HP:0001004	Lymphedema	1/2	OMIM:605822
64132	XYLT2	HP:0002317	Unsteady gait	1/2	OMIM:605822
64132	XYLT2	HP:0002315	Headache	-	OMIM:131300
64132	XYLT2	HP:0004976	Knee dislocation	16/20	OMIM:150250
64132	XYLT2	HP:0004976	Knee dislocation	6/6	OMIM:143095
64132	XYLT2	HP:0004976	Knee dislocation	6/7	OMIM:615777
64132	XYLT2	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
64132	XYLT2	HP:0200003	Splayed epiphyses	-	OMIM:156550
64132	XYLT2	HP:0009803	Short phalanx of finger	-	OMIM:143095
64132	XYLT2	HP:0009803	Short phalanx of finger	-	OMIM:615777
64132	XYLT2	HP:0001089	Iris atrophy	-	OMIM:259770
64132	XYLT2	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:143095
64132	XYLT2	HP:0010743	Short metatarsal	-	OMIM:150250
64132	XYLT2	HP:0009763	Limb pain	63/92	OMIM:131300
64132	XYLT2	HP:0008434	Hypoplastic cervical vertebrae	-	OMIM:150250
64132	XYLT2	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
64132	XYLT2	HP:0003621	Juvenile onset	-	OMIM:131300
64132	XYLT2	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
64132	XYLT2	HP:0004943	Accelerated atherosclerosis	-	OMIM:264800
64132	XYLT2	HP:0004942	Aortic aneurysm	-	OMIM:150250
64132	XYLT2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
64132	XYLT2	HP:0004209	Clinodactyly of the 5th finger	2/9	OMIM:154780
64132	XYLT2	HP:0031846	Femur fracture	1/2	OMIM:605822
64132	XYLT2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
64132	XYLT2	HP:0004232	Accessory carpal bones	-	OMIM:150250
64132	XYLT2	HP:0000639	Nystagmus	1/2	OMIM:605822
64132	XYLT2	HP:0000639	Nystagmus	HP:0040283	ORPHA:85194
64132	XYLT2	HP:6001056	Out-toeing	-	OMIM:131300
64132	XYLT2	HP:0000651	Diplopia	-	OMIM:131300
64132	XYLT2	HP:0000646	Amblyopia	1/2	OMIM:605822
64132	XYLT2	HP:0000648	Optic atrophy	-	OMIM:143200
64132	XYLT2	HP:0000618	Blindness	5/5	OMIM:259770
64132	XYLT2	HP:0001956	Truncal obesity	2/7	OMIM:615777
64132	XYLT2	HP:0000608	Macular degeneration	5/40	OMIM:264800
64132	XYLT2	HP:0001903	Anemia	HP:0040283	OMIM:131300
64132	XYLT2	HP:0010049	Short metacarpal	-	OMIM:143095
64132	XYLT2	HP:0010049	Short metacarpal	-	OMIM:615777
64132	XYLT2	HP:0010049	Short metacarpal	-	OMIM:150250
64132	XYLT2	HP:0030490	Exudative vitreoretinopathy	HP:0040283	OMIM:143200
64132	XYLT2	HP:0000684	Delayed eruption of teeth	-	OMIM:143095
64132	XYLT2	HP:0000678	Dental crowding	-	OMIM:615777
64132	XYLT2	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:154780
64132	XYLT2	HP:0000691	Microdontia	-	OMIM:143095
64132	XYLT2	HP:0000687	Widely spaced teeth	-	OMIM:143095
64132	XYLT2	HP:0000670	Carious teeth	-	OMIM:131300
64132	XYLT2	HP:0011304	Broad thumb	2/7	OMIM:615777
64132	XYLT2	HP:0000668	Hypodontia	-	OMIM:615777
64132	XYLT2	HP:0000668	Hypodontia	-	OMIM:150250
64132	XYLT2	HP:0000667	Phthisis bulbi	-	OMIM:259770
64132	XYLT2	HP:0000664	Synophrys	-	OMIM:615777
64132	XYLT2	HP:0004325	Decreased body weight	HP:0040283	OMIM:605822
64132	XYLT2	HP:0004322	Short stature	HP:0040283	OMIM:605822
64132	XYLT2	HP:0004322	Short stature	-	OMIM:259770
64132	XYLT2	HP:0004322	Short stature	-	OMIM:154780
64132	XYLT2	HP:0004322	Short stature	15/15	OMIM:143095
64132	XYLT2	HP:0004322	Short stature	HP:0040283	ORPHA:85194
64132	XYLT2	HP:0004322	Short stature	14/20	OMIM:150250
64132	XYLT2	HP:0030663	Optically empty vitreous	-	OMIM:143200
64132	XYLT2	HP:0003071	Flattened epiphysis	-	OMIM:143095
64132	XYLT2	HP:0003088	Premature osteoarthritis	-	OMIM:184840
64132	XYLT2	HP:0003083	Dislocated radial head	6/6	OMIM:143095
64132	XYLT2	HP:0004396	Poor appetite	-	OMIM:131300
64132	XYLT2	HP:0003037	Enlarged joints	-	OMIM:156550
64132	XYLT2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
64132	XYLT2	HP:0003031	Ulnar bowing	-	OMIM:154780
64132	XYLT2	HP:0003031	Ulnar bowing	-	OMIM:143095
64132	XYLT2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
64132	XYLT2	HP:0003042	Elbow dislocation	-	OMIM:143095
64132	XYLT2	HP:0003042	Elbow dislocation	13/20	OMIM:150250
64132	XYLT2	HP:0003040	Arthropathy	-	OMIM:143095
64132	XYLT2	HP:0003015	Flared metaphysis	-	OMIM:156550
64132	XYLT2	HP:0003016	Metaphyseal widening	-	OMIM:259770
64132	XYLT2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
64132	XYLT2	HP:0003026	Short long bone	7/7	OMIM:615777
64132	XYLT2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
64132	XYLT2	HP:0003022	Hypoplasia of the ulna	-	OMIM:143095
64132	XYLT2	HP:0012741	Unilateral cryptorchidism	1/2	OMIM:605822
64132	XYLT2	HP:0000767	Pectus excavatum	1/1	OMIM:156550
64132	XYLT2	HP:0000767	Pectus excavatum	-	OMIM:150250
64132	XYLT2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
64132	XYLT2	HP:0000768	Pectus carinatum	-	OMIM:150250
64132	XYLT2	HP:0000768	Pectus carinatum	1/2	OMIM:605822
64132	XYLT2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
64132	XYLT2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
64132	XYLT2	HP:0000750	Delayed speech and language development	-	OMIM:615777
64132	XYLT2	HP:0009179	Deviation of the 5th finger	-	OMIM:143095
64132	XYLT2	HP:0011461	Fetal onset	7/7	OMIM:615777
64132	XYLT2	HP:0011461	Fetal onset	2/2	OMIM:612394
64132	XYLT2	HP:0000774	Narrow chest	2/7	OMIM:615777
64132	XYLT2	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
64132	XYLT2	HP:0004417	Intermittent claudication	2/26	OMIM:264800
64132	XYLT2	HP:0003196	Short nose	9/9	OMIM:154780
64132	XYLT2	HP:0003196	Short nose	1/1	OMIM:612394
64132	XYLT2	HP:0000914	Shield chest	1/2	OMIM:605822
64132	XYLT2	HP:0000914	Shield chest	-	OMIM:143095
64132	XYLT2	HP:0000926	Platyspondyly	1/9	OMIM:154780
64132	XYLT2	HP:0000926	Platyspondyly	-	OMIM:184840
64132	XYLT2	HP:0000926	Platyspondyly	HP:0040281	ORPHA:85194
64132	XYLT2	HP:0000926	Platyspondyly	2/2	OMIM:605822
64132	XYLT2	HP:0000926	Platyspondyly	-	OMIM:259770
64132	XYLT2	HP:0000926	Platyspondyly	1/7	OMIM:615777
64132	XYLT2	HP:0000926	Platyspondyly	1/1	OMIM:156550
64132	XYLT2	HP:0000926	Platyspondyly	1/1	OMIM:612394
64132	XYLT2	HP:0003184	Decreased hip abduction	-	OMIM:143095
64132	XYLT2	HP:0003180	Flat acetabular roof	-	OMIM:615777
64132	XYLT2	HP:0004482	Relative macrocephaly	-	OMIM:615777
64132	XYLT2	HP:0004467	Preauricular pit	HP:0040283	ORPHA:85194
64132	XYLT2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
64132	XYLT2	HP:0011506	Choroidal neovascularization	17/50	OMIM:264800
64132	XYLT2	HP:0003093	Limited hip extension	9/9	OMIM:143095
64132	XYLT2	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
64132	XYLT2	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:143095
64132	XYLT2	HP:0000822	Hypertension	19/67	OMIM:264800
64132	XYLT2	HP:0000823	Delayed puberty	-	OMIM:131300
64132	XYLT2	HP:0040025	Clinodactyly of the 4th finger	2/9	OMIM:154780
64132	XYLT2	HP:0000894	Short clavicles	-	OMIM:615777
64132	XYLT2	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
64132	XYLT2	HP:0004568	Beaking of vertebral bodies	-	OMIM:150250
64132	XYLT2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
64132	XYLT2	HP:0003298	Spina bifida occulta	-	OMIM:150250
64132	XYLT2	HP:0045051	Decreased DLCO	11/35	OMIM:264800
64132	XYLT2	HP:0003273	Hip contracture	-	OMIM:156550
64132	XYLT2	HP:0045075	Sparse eyebrow	-	OMIM:143095
64132	XYLT2	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
64132	XYLT2	HP:0100250	Meningeal calcification	-	OMIM:154780
64132	XYLT2	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
64132	XYLT2	HP:0000974	Hyperextensible skin	HP:0040283	ORPHA:85194
64132	XYLT2	HP:0000973	Cutis laxa	7/16	OMIM:264800
64132	XYLT2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
64132	XYLT2	HP:0033026	White oral mucosal macule	-	OMIM:264800
64132	XYLT2	HP:0033027	Retinal peau d'orange	9/9	OMIM:264800
64132	XYLT2	HP:0000939	Osteoporosis	HP:0040281	ORPHA:85194
64132	XYLT2	HP:0000939	Osteoporosis	4/5	OMIM:259770
64132	XYLT2	HP:0000938	Osteopenia	-	OMIM:605822
64132	XYLT2	HP:0000938	Osteopenia	1/5	OMIM:259770
64132	XYLT2	HP:0000938	Osteopenia	1/1	OMIM:612394
64132	XYLT2	HP:0000947	Dumbbell-shaped long bone	-	OMIM:156550
64132	XYLT2	HP:0000946	Hypoplastic ilia	-	OMIM:154780
64132	XYLT2	HP:0008063	Aplasia/Hypoplasia of the lens	HP:0040282	ORPHA:85194
64132	XYLT2	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
64132	XYLT2	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:143200
64132	XYLT2	HP:6000970	Diminished sulfotransferase activity in cultured fibroblasts	2/2	OMIM:143095
64132	XYLT2	HP:0012283	Small distal femoral epiphysis	-	OMIM:154780
64132	XYLT2	HP:0012284	Small proximal tibial epiphyses	-	OMIM:154780
64132	XYLT2	HP:0000286	Epicanthus	-	OMIM:154780
64132	XYLT2	HP:0000286	Epicanthus	1/7	OMIM:615777
64132	XYLT2	HP:0000280	Coarse facial features	2/7	OMIM:615777
64132	XYLT2	HP:0000297	Facial hypotonia	HP:0040282	ORPHA:85194
64132	XYLT2	HP:0000272	Malar flattening	-	OMIM:154780
64132	XYLT2	HP:0000272	Malar flattening	27/28	OMIM:184840
64132	XYLT2	HP:0000272	Malar flattening	-	OMIM:150250
64132	XYLT2	HP:0000272	Malar flattening	1/1	OMIM:156550
64132	XYLT2	HP:0000272	Malar flattening	1/1	OMIM:612394
64132	XYLT2	HP:0006471	Fixed elbow flexion	-	OMIM:143095
64132	XYLT2	HP:0006462	Generalized bone demineralization	-	OMIM:143095
64132	XYLT2	HP:0006456	Irregular proximal tibial epiphyses	-	OMIM:154780
64132	XYLT2	HP:0007787	Posterior subcapsular cataract	1/2	OMIM:605822
64132	XYLT2	HP:0005108	Abnormal intervertebral disk morphology	HP:0040281	ORPHA:85194
64132	XYLT2	HP:0007773	Vitreoretinopathy	-	OMIM:154780
64132	XYLT2	HP:0007773	Vitreoretinopathy	-	OMIM:259770
64132	XYLT2	HP:0007773	Vitreoretinopathy	-	OMIM:143200
64132	XYLT2	HP:0006407	Irregular distal femoral epiphysis	-	OMIM:154780
64132	XYLT2	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:85194
64132	XYLT2	HP:0002816	Genu recurvatum	3/6	OMIM:143095
64132	XYLT2	HP:0002812	Coxa vara	-	OMIM:156550
64132	XYLT2	HP:0002829	Arthralgia	-	OMIM:143095
64132	XYLT2	HP:0002829	Arthralgia	20/20	OMIM:184840
64132	XYLT2	HP:0002827	Hip dislocation	16/20	OMIM:150250
64132	XYLT2	HP:0002827	Hip dislocation	3/7	OMIM:615777
64132	XYLT2	HP:0002827	Hip dislocation	-	OMIM:156550
64132	XYLT2	HP:0005086	Knee osteoarthritis	-	OMIM:154780
64132	XYLT2	HP:0002808	Kyphosis	-	OMIM:143095
64132	XYLT2	HP:0002808	Kyphosis	1/5	OMIM:259770
64132	XYLT2	HP:0006375	Dumbbell-shaped femur	1/1	OMIM:156550
64132	XYLT2	HP:0006361	Irregular femoral epiphysis	-	OMIM:154780
64132	XYLT2	HP:0000252	Microcephaly	-	OMIM:259770
64132	XYLT2	HP:0000252	Microcephaly	-	OMIM:615777
64132	XYLT2	HP:0001552	Barrel-shaped chest	-	OMIM:143095
64132	XYLT2	HP:0001552	Barrel-shaped chest	-	OMIM:259770
64132	XYLT2	HP:0000218	High palate	-	OMIM:143095
64132	XYLT2	HP:0000215	Thick upper lip vermilion	-	OMIM:154780
64132	XYLT2	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:85194
64132	XYLT2	HP:0025507	Yellow papule	12/16	OMIM:264800
64132	XYLT2	HP:0002857	Genu valgum	-	OMIM:131300
64132	XYLT2	HP:0002857	Genu valgum	-	OMIM:143095
64132	XYLT2	HP:0001537	Umbilical hernia	-	OMIM:156550
64132	XYLT2	HP:0001533	Slender build	-	OMIM:131300
64132	XYLT2	HP:0000201	Pierre-Robin sequence	4/9	OMIM:154780
64132	XYLT2	HP:0000201	Pierre-Robin sequence	-	OMIM:184840
64132	XYLT2	HP:0000204	Cleft upper lip	-	OMIM:150250
64132	XYLT2	HP:0001511	Intrauterine growth retardation	-	OMIM:150250
64132	XYLT2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
64132	XYLT2	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
64132	XYLT2	HP:0007807	Optic nerve compression	-	OMIM:131300
64132	XYLT2	HP:0012368	Flat face	7/7	OMIM:615777
64132	XYLT2	HP:0012368	Flat face	1/1	OMIM:612394
64132	XYLT2	HP:0012368	Flat face	-	OMIM:150250
64132	XYLT2	HP:0000391	Thickened helices	HP:0040283	ORPHA:85194
64132	XYLT2	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
64132	XYLT2	HP:0007875	Congenital blindness	4/5	OMIM:259770
64132	XYLT2	HP:0007862	Retinal calcification	1/5	OMIM:259770
64132	XYLT2	HP:0002938	Lumbar hyperlordosis	-	OMIM:143095
64132	XYLT2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
64132	XYLT2	HP:0002948	Vertebral fusion	8/16	OMIM:150250
64132	XYLT2	HP:0002947	Cervical kyphosis	-	OMIM:150250
64132	XYLT2	HP:0002945	Intervertebral space narrowing	9/9	OMIM:143095
64132	XYLT2	HP:0002942	Thoracic kyphosis	HP:0040281	ORPHA:85194
64132	XYLT2	HP:0005176	Dysplastic aortic valve	2/2	OMIM:605822
64132	XYLT2	HP:0005180	Tricuspid regurgitation	-	OMIM:143095
64132	XYLT2	HP:0000365	Hearing impairment	-	OMIM:143095
64132	XYLT2	HP:0000365	Hearing impairment	10/67	OMIM:131300
64132	XYLT2	HP:0000365	Hearing impairment	4/19	OMIM:150250
64132	XYLT2	HP:0000358	Posteriorly rotated ears	1/2	OMIM:605822
64132	XYLT2	HP:0000369	Low-set ears	1/2	OMIM:605822
64132	XYLT2	HP:0000369	Low-set ears	-	OMIM:154780
64132	XYLT2	HP:0000369	Low-set ears	2/2	OMIM:612394
64132	XYLT2	HP:0000369	Low-set ears	HP:0040283	ORPHA:85194
64132	XYLT2	HP:0000343	Long philtrum	HP:0040282	OMIM:143095
64132	XYLT2	HP:0000343	Long philtrum	HP:0040283	ORPHA:85194
64132	XYLT2	HP:0000343	Long philtrum	-	OMIM:154780
64132	XYLT2	HP:0000343	Long philtrum	1/7	OMIM:615777
64132	XYLT2	HP:0011001	Increased bone mineral density	-	OMIM:131300
64132	XYLT2	HP:0000337	Broad forehead	HP:0040282	OMIM:143095
64132	XYLT2	HP:0001681	Angina pectoris	-	OMIM:264800
64132	XYLT2	HP:0000347	Micrognathia	-	OMIM:154780
64132	XYLT2	HP:0001677	Coronary artery atherosclerosis	3/67	OMIM:264800
64132	XYLT2	HP:0002982	Tibial bowing	1/5	OMIM:259770
64132	XYLT2	HP:0002982	Tibial bowing	-	OMIM:143095
64132	XYLT2	HP:0002982	Tibial bowing	1/1	OMIM:156550
64132	XYLT2	HP:0001650	Aortic valve stenosis	-	OMIM:143095
64132	XYLT2	HP:0000316	Hypertelorism	-	OMIM:154780
64132	XYLT2	HP:0000316	Hypertelorism	-	OMIM:143095
64132	XYLT2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:85194
64132	XYLT2	HP:0000316	Hypertelorism	-	OMIM:150250
64132	XYLT2	HP:0000311	Round face	2/7	OMIM:615777
64132	XYLT2	HP:0000311	Round face	-	OMIM:156550
64132	XYLT2	HP:0001642	Pulmonic stenosis	-	OMIM:143095
64132	XYLT2	HP:0001659	Aortic regurgitation	-	OMIM:143095
64132	XYLT2	HP:0002986	Radial bowing	-	OMIM:154780
64132	XYLT2	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
64132	XYLT2	HP:0001653	Mitral regurgitation	-	OMIM:143095
64132	XYLT2	HP:0001629	Ventricular septal defect	-	OMIM:143095
64132	XYLT2	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:85194
64132	XYLT2	HP:0001629	Ventricular septal defect	-	OMIM:259770
64132	XYLT2	HP:0001629	Ventricular septal defect	-	OMIM:150250
64132	XYLT2	HP:0002953	Vertebral compression fracture	2/2	OMIM:605822
64132	XYLT2	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
64132	XYLT2	HP:0001623	Breech presentation	3/6	OMIM:143095
64132	XYLT2	HP:0002970	Genu varum	-	OMIM:615777
64132	XYLT2	HP:0002970	Genu varum	1/1	OMIM:156550
64132	XYLT2	HP:0001635	Congestive heart failure	HP:0040284	OMIM:264800
64132	XYLT2	HP:0000307	Pointed chin	1/2	OMIM:612394
64132	XYLT2	HP:0002967	Cubitus valgus	-	OMIM:143095
64132	XYLT2	HP:0001631	Atrial septal defect	2/2	OMIM:605822
64132	XYLT2	HP:0001631	Atrial septal defect	-	OMIM:150250
64132	XYLT2	HP:0000303	Mandibular prognathia	-	OMIM:131300
64132	XYLT2	HP:0001634	Mitral valve prolapse	2/2	OMIM:605822
64132	XYLT2	HP:0001634	Mitral valve prolapse	4/99	OMIM:264800
64132	XYLT2	HP:0007957	Corneal opacity	-	OMIM:150250
64132	XYLT2	HP:0006610	Wide intermamillary distance	-	OMIM:143095
64132	XYLT2	HP:0001723	Restrictive cardiomyopathy	HP:0040284	OMIM:264800
64132	XYLT2	HP:0000407	Sensorineural hearing impairment	3/4	OMIM:605822
64132	XYLT2	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:154780
64132	XYLT2	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
64132	XYLT2	HP:0000407	Sensorineural hearing impairment	16/28	OMIM:184840
64132	XYLT2	HP:0000403	Recurrent otitis media	4/9	OMIM:154780
64132	XYLT2	HP:0000403	Recurrent otitis media	-	OMIM:156550
64132	XYLT2	HP:0000405	Conductive hearing impairment	-	OMIM:150250
64132	XYLT2	HP:0000405	Conductive hearing impairment	-	OMIM:156550
64132	XYLT2	HP:0001718	Mitral stenosis	-	OMIM:143095
64132	XYLT2	HP:0001718	Mitral stenosis	HP:0040284	OMIM:264800
64132	XYLT2	HP:0001714	Ventricular hypertrophy	-	OMIM:143095
64132	XYLT2	HP:0005280	Depressed nasal bridge	27/28	OMIM:184840
64132	XYLT2	HP:0005280	Depressed nasal bridge	-	OMIM:156550
64132	XYLT2	HP:0005280	Depressed nasal bridge	9/9	OMIM:154780
64132	XYLT2	HP:0005280	Depressed nasal bridge	-	OMIM:150250
64132	XYLT2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
64132	XYLT2	HP:0000478	Abnormality of the eye	0/3	OMIM:184840
64132	XYLT2	HP:0000463	Anteverted nares	27/28	OMIM:184840
64132	XYLT2	HP:0000463	Anteverted nares	-	OMIM:154780
64132	XYLT2	HP:0000463	Anteverted nares	1/1	OMIM:612394
64132	XYLT2	HP:0000470	Short neck	-	OMIM:143095
64132	XYLT2	HP:0000470	Short neck	HP:0040281	ORPHA:85194
64132	XYLT2	HP:0000470	Short neck	-	OMIM:156550
64132	XYLT2	HP:0000470	Short neck	1/7	OMIM:615777
64132	XYLT2	HP:0000465	Webbed neck	1/2	OMIM:605822
64132	XYLT2	HP:0000465	Webbed neck	HP:0040283	ORPHA:85194
64132	XYLT2	HP:0001799	Short nail	-	OMIM:150250
64132	XYLT2	HP:0001772	Talipes equinovalgus	-	OMIM:150250
64132	XYLT2	HP:0012426	Optic disc drusen	-	OMIM:264800
64132	XYLT2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
64132	XYLT2	HP:0001763	Pes planus	-	OMIM:143095
64132	XYLT2	HP:0001763	Pes planus	HP:0040282	ORPHA:85194
64132	XYLT2	HP:0001763	Pes planus	2/2	OMIM:605822
64132	XYLT2	HP:0001763	Pes planus	1/7	OMIM:615777
64132	XYLT2	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
64132	XYLT2	HP:0001762	Talipes equinovarus	6/6	OMIM:143095
64132	XYLT2	HP:0001762	Talipes equinovarus	15/20	OMIM:150250
64132	XYLT2	HP:0025707	Hypoplastic fetal nasal bone	-	OMIM:154780
64132	XYLT2	HP:0005462	Calcification of falx cerebri	-	OMIM:154780
64132	XYLT2	HP:0000518	Cataract	HP:0040282	ORPHA:85194
64132	XYLT2	HP:0000518	Cataract	2/2	OMIM:605822
64132	XYLT2	HP:0000518	Cataract	1/5	OMIM:259770
64132	XYLT2	HP:0000518	Cataract	-	OMIM:156550
64132	XYLT2	HP:0000518	Cataract	-	OMIM:143200
64132	XYLT2	HP:0000518	Cataract	9/9	OMIM:154780
64132	XYLT2	HP:0000518	Cataract	1/1	OMIM:612394
64132	XYLT2	HP:0001845	Overlapping toe	1/2	OMIM:605822
64132	XYLT2	HP:0001840	Metatarsus adductus	-	OMIM:615777
64132	XYLT2	HP:0000520	Proptosis	2/4	OMIM:131300
64132	XYLT2	HP:0000520	Proptosis	7/7	OMIM:615777
64132	XYLT2	HP:0000520	Proptosis	-	OMIM:156550
64132	XYLT2	HP:0000505	Visual impairment	1/2	OMIM:605822
64132	XYLT2	HP:0000505	Visual impairment	7/15	OMIM:264800
64132	XYLT2	HP:0000501	Glaucoma	-	OMIM:154780
64132	XYLT2	HP:0000501	Glaucoma	-	OMIM:143200
64132	XYLT2	HP:0000592	Blue sclerae	2/7	OMIM:615777
64132	XYLT2	HP:0000591	Abnormal sclera morphology	0/2	OMIM:605822
64132	XYLT2	HP:0000586	Shallow orbits	-	OMIM:150250
64132	XYLT2	HP:0000586	Shallow orbits	1/1	OMIM:612394
64132	XYLT2	HP:0011220	Prominent forehead	-	OMIM:150250
64132	XYLT2	HP:0000572	Visual loss	HP:0040281	ORPHA:85194
64132	XYLT2	HP:0000572	Visual loss	-	OMIM:143200
64132	XYLT2	HP:0000573	Retinal hemorrhage	-	OMIM:264800
64132	XYLT2	HP:0000568	Microphthalmia	HP:0040282	ORPHA:85194
64132	XYLT2	HP:0000568	Microphthalmia	1/5	OMIM:259770
64132	XYLT2	HP:0000565	Esotropia	-	OMIM:154780
64132	XYLT2	HP:0000541	Retinal detachment	2/4	OMIM:605822
64132	XYLT2	HP:0000541	Retinal detachment	-	OMIM:154780
64132	XYLT2	HP:0000541	Retinal detachment	-	OMIM:156550
64132	XYLT2	HP:0000541	Retinal detachment	HP:0040281	ORPHA:85194
64132	XYLT2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
64132	XYLT2	HP:0000534	Abnormal eyebrow morphology	HP:0040281	ORPHA:85194
64132	XYLT2	HP:0000533	Chorioretinal atrophy	-	OMIM:143200
64132	XYLT2	HP:0012514	Lower limb pain	4/4	OMIM:131300
64132	XYLT2	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
64132	XYLT2	HP:0000545	Myopia	HP:0040283	ORPHA:85194
64132	XYLT2	HP:0000545	Myopia	1/1	OMIM:156550
64132	XYLT2	HP:0000545	Myopia	-	OMIM:143200
64132	XYLT2	HP:0000545	Myopia	9/9	OMIM:154780
64132	XYLT2	HP:0000545	Myopia	1/1	OMIM:612394
64135	IFIH1	HP:0002445	Tetraplegia	1/5	OMIM:615846
64135	IFIH1	HP:0025179	Ground-glass opacification	1/1	OMIM:619773
64135	IFIH1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:51
64135	IFIH1	HP:0009890	High anterior hairline	17/17	OMIM:182250
64135	IFIH1	HP:0032297	Increased circulating IgG3 level	1/1	OMIM:619773
64135	IFIH1	HP:0007229	Intracerebral periventricular calcifications	2/5	OMIM:615846
64135	IFIH1	HP:0002421	Poor head control	1/5	OMIM:615846
64135	IFIH1	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:51
64135	IFIH1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
64135	IFIH1	HP:0001293	Cranial nerve compression	-	OMIM:131300
64135	IFIH1	HP:0001290	Generalized hypotonia	-	OMIM:615846
64135	IFIH1	HP:0001290	Generalized hypotonia	-	OMIM:182250
64135	IFIH1	HP:0001276	Hypertonia	1/5	OMIM:615846
64135	IFIH1	HP:0001276	Hypertonia	HP:0040281	ORPHA:51
64135	IFIH1	HP:0001272	Cerebellar atrophy	2/5	OMIM:615846
64135	IFIH1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:51
64135	IFIH1	HP:0001285	Spastic tetraparesis	-	OMIM:615846
64135	IFIH1	HP:0002582	Atrophic gastritis	1/5	OMIM:615846
64135	IFIH1	HP:0001250	Seizure	HP:0040282	ORPHA:51
64135	IFIH1	HP:0001250	Seizure	1/5	OMIM:615846
64135	IFIH1	HP:0001252	Hypotonia	1/5	OMIM:615846
64135	IFIH1	HP:0001252	Hypotonia	-	OMIM:182250
64135	IFIH1	HP:0001252	Hypotonia	2/7	OMIM:615777
64135	IFIH1	HP:0001249	Intellectual disability	-	OMIM:615846
64135	IFIH1	HP:0001249	Intellectual disability	5/7	OMIM:615777
64135	IFIH1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:51
64135	IFIH1	HP:0001263	Global developmental delay	5/5	OMIM:615846
64135	IFIH1	HP:0001263	Global developmental delay	-	OMIM:615777
64135	IFIH1	HP:0001257	Spasticity	HP:0040281	ORPHA:51
64135	IFIH1	HP:0002573	Hematochezia	1/5	OMIM:615846
64135	IFIH1	HP:0006112	Expanded phalanges with widened medullary cavities	-	OMIM:182250
64135	IFIH1	HP:0002515	Waddling gait	-	OMIM:182250
64135	IFIH1	HP:0002515	Waddling gait	54/102	OMIM:131300
64135	IFIH1	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:51
64135	IFIH1	HP:0003829	Typified by incomplete penetrance	-	OMIM:615846
64135	IFIH1	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:51
64135	IFIH1	HP:0002509	Limb hypertonia	1/5	OMIM:615846
64135	IFIH1	HP:0001397	Hepatic steatosis	1/5	OMIM:615846
64135	IFIH1	HP:0001369	Arthritis	1/5	OMIM:615846
64135	IFIH1	HP:0001369	Arthritis	HP:0040283	ORPHA:51
64135	IFIH1	HP:0000054	Micropenis	HP:0040283	ORPHA:51
64135	IFIH1	HP:0001382	Joint hypermobility	-	OMIM:615777
64135	IFIH1	HP:0002684	Thickened calvaria	10/11	OMIM:182250
64135	IFIH1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
64135	IFIH1	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:51
64135	IFIH1	HP:0006232	Expanded metacarpals with widened medullary cavities	-	OMIM:182250
64135	IFIH1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
64135	IFIH1	HP:0001332	Dystonia	2/5	OMIM:615846
64135	IFIH1	HP:0001332	Dystonia	HP:0040282	ORPHA:51
64135	IFIH1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
64135	IFIH1	HP:0001324	Muscle weakness	40/96	OMIM:131300
64135	IFIH1	HP:0001324	Muscle weakness	-	OMIM:182250
64135	IFIH1	HP:0001344	Absent speech	-	OMIM:615846
64135	IFIH1	HP:0002673	Coxa valga	-	OMIM:182250
64135	IFIH1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
64135	IFIH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
64135	IFIH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619773
64135	IFIH1	HP:0001337	Tremor	HP:0040283	ORPHA:51
64135	IFIH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615846
64135	IFIH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
64135	IFIH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:182250
64135	IFIH1	HP:0002633	Vasculitis	1/5	OMIM:615846
64135	IFIH1	HP:0002650	Scoliosis	HP:0040283	ORPHA:51
64135	IFIH1	HP:0002650	Scoliosis	12/14	OMIM:131300
64135	IFIH1	HP:0002650	Scoliosis	3/11	OMIM:182250
64135	IFIH1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
64135	IFIH1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
64135	IFIH1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
64135	IFIH1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
64135	IFIH1	HP:0000175	Cleft palate	2/7	OMIM:615777
64135	IFIH1	HP:0012115	Hepatitis	1/5	OMIM:615846
64135	IFIH1	HP:0006353	Hypoplasia of the tooth germ	-	OMIM:182250
64135	IFIH1	HP:0006336	Short dental root	10/11	OMIM:182250
64135	IFIH1	HP:0008936	Axial hypotonia	13/15	OMIM:615846
64135	IFIH1	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:51
64135	IFIH1	HP:0008940	Generalized lymphadenopathy	1/5	OMIM:615846
64135	IFIH1	HP:0002783	Recurrent lower respiratory tract infections	1/5	OMIM:615846
64135	IFIH1	HP:0000100	Nephrotic syndrome	1/5	OMIM:615846
64135	IFIH1	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:51
64135	IFIH1	HP:0002014	Diarrhea	1/5	OMIM:615846
64135	IFIH1	HP:0100550	Tendon rupture	-	OMIM:182250
64135	IFIH1	HP:0002098	Respiratory distress	1/1	OMIM:619773
64135	IFIH1	HP:0002090	Pneumonia	1/5	OMIM:615846
64135	IFIH1	HP:0002061	Lower limb spasticity	1/5	OMIM:615846
64135	IFIH1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:51
64135	IFIH1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:51
64135	IFIH1	HP:0002059	Cerebral atrophy	5/5	OMIM:615846
64135	IFIH1	HP:0003388	Easy fatigability	36/76	OMIM:131300
64135	IFIH1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
64135	IFIH1	HP:0008102	Expanded metatarsals with widened medullary cavities	-	OMIM:182250
64135	IFIH1	HP:0100578	Lipoatrophy	HP:0040284	ORPHA:51
64135	IFIH1	HP:0033166	Recurrent viral upper respiratory tract infections	1/1	OMIM:619773
64135	IFIH1	HP:0002139	Arrhinencephaly	HP:0040281	ORPHA:51
64135	IFIH1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:51
64135	IFIH1	HP:0002135	Basal ganglia calcification	2/5	OMIM:615846
64135	IFIH1	HP:0002132	Porencephalic cyst	HP:0040281	ORPHA:51
64135	IFIH1	HP:0002187	Intellectual disability, profound	HP:0040281	ORPHA:51
64135	IFIH1	HP:0033214	Recurrent viral pneumonia	1/1	OMIM:619773
64135	IFIH1	HP:0011834	Moyamoya phenomenon	HP:0040284	ORPHA:51
64135	IFIH1	HP:0003593	Infantile onset	1/5	OMIM:615846
64135	IFIH1	HP:0003593	Infantile onset	1/1	OMIM:619773
64135	IFIH1	HP:0003593	Infantile onset	2/11	OMIM:182250
64135	IFIH1	HP:0002273	Tetraparesis	1/5	OMIM:615846
64135	IFIH1	HP:0003577	Congenital onset	1/5	OMIM:615846
64135	IFIH1	HP:0002240	Hepatomegaly	2/5	OMIM:615846
64135	IFIH1	HP:0002248	Hematemesis	1/5	OMIM:615846
64135	IFIH1	HP:0003552	Muscle stiffness	HP:0040283	ORPHA:51
64135	IFIH1	HP:0002202	Pleural effusion	3/11	OMIM:182250
64135	IFIH1	HP:0002205	Recurrent respiratory infections	1/1	OMIM:619773
64135	IFIH1	HP:0002205	Recurrent respiratory infections	-	OMIM:182250
64135	IFIH1	HP:0010702	Increased circulating immunoglobulin concentration	HP:0040283	OMIM:615846
64135	IFIH1	HP:0009709	Increased CSF interferon alpha	HP:0040282	ORPHA:51
64135	IFIH1	HP:0009710	Chilblains	1/5	OMIM:615846
64135	IFIH1	HP:0009710	Chilblains	HP:0040282	ORPHA:51
64135	IFIH1	HP:0009704	Chronic CSF lymphocytosis	HP:0040282	ORPHA:51
64135	IFIH1	HP:0011968	Feeding difficulties	-	OMIM:615846
64135	IFIH1	HP:0003510	Severe short stature	7/7	OMIM:615777
64135	IFIH1	HP:0004809	Neonatal alloimmune thrombocytopenia	HP:0040283	ORPHA:51
64135	IFIH1	HP:0007076	Extrapyramidal muscular rigidity	HP:0040282	ORPHA:51
64135	IFIH1	HP:0007052	Multifocal cerebral white matter abnormalities	HP:0040281	ORPHA:51
64135	IFIH1	HP:0001063	Acrocyanosis	HP:0040283	ORPHA:51
64135	IFIH1	HP:0001047	Atopic dermatitis	-	OMIM:615846
64135	IFIH1	HP:0002376	Developmental regression	1/5	OMIM:615846
64135	IFIH1	HP:0002376	Developmental regression	HP:0040282	ORPHA:51
64135	IFIH1	HP:0002371	Loss of speech	HP:0040282	ORPHA:51
64135	IFIH1	HP:0001025	Urticaria	1/5	OMIM:615846
64135	IFIH1	HP:0002315	Headache	-	OMIM:131300
64135	IFIH1	HP:0002315	Headache	HP:0040283	ORPHA:51
64135	IFIH1	HP:0004976	Knee dislocation	6/7	OMIM:615777
64135	IFIH1	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:51
64135	IFIH1	HP:0025085	Bloody diarrhea	1/5	OMIM:615846
64135	IFIH1	HP:0100614	Myositis	HP:0040284	ORPHA:51
64135	IFIH1	HP:0009803	Short phalanx of finger	-	OMIM:615777
64135	IFIH1	HP:0001087	Developmental glaucoma	HP:0040283	ORPHA:51
64135	IFIH1	HP:0032137	Decreased circulating IgG3 concentration	1/1	OMIM:619773
64135	IFIH1	HP:0032153	Joint subluxation	8/9	OMIM:182250
64135	IFIH1	HP:0009771	Osteolytic defects of the phalanges of the hand	16/19	OMIM:182250
64135	IFIH1	HP:0009763	Limb pain	63/92	OMIM:131300
64135	IFIH1	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:51
64135	IFIH1	HP:0004963	Calcification of the aorta	HP:0040284	ORPHA:51
64135	IFIH1	HP:0003623	Neonatal onset	1/5	OMIM:615846
64135	IFIH1	HP:0003621	Juvenile onset	-	OMIM:131300
64135	IFIH1	HP:0003621	Juvenile onset	1/11	OMIM:182250
64135	IFIH1	HP:0004942	Aortic aneurysm	HP:0040284	ORPHA:51
64135	IFIH1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
64135	IFIH1	HP:0005550	Chronic lymphatic leukemia	HP:0040284	ORPHA:51
64135	IFIH1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
64135	IFIH1	HP:0000639	Nystagmus	1/5	OMIM:615846
64135	IFIH1	HP:0000639	Nystagmus	HP:0040283	ORPHA:51
64135	IFIH1	HP:6001056	Out-toeing	-	OMIM:131300
64135	IFIH1	HP:0000651	Diplopia	-	OMIM:131300
64135	IFIH1	HP:0001945	Fever	1/5	OMIM:615846
64135	IFIH1	HP:0001955	Unexplained fevers	HP:0040282	ORPHA:51
64135	IFIH1	HP:0001954	Recurrent fever	1/1	OMIM:619773
64135	IFIH1	HP:0000625	Eyelid coloboma	HP:0040282	ORPHA:51
64135	IFIH1	HP:0001956	Truncal obesity	2/7	OMIM:615777
64135	IFIH1	HP:0001903	Anemia	HP:0040283	OMIM:131300
64135	IFIH1	HP:0001903	Anemia	1/5	OMIM:615846
64135	IFIH1	HP:0010049	Short metacarpal	-	OMIM:615777
64135	IFIH1	HP:0000678	Dental crowding	-	OMIM:615777
64135	IFIH1	HP:0000670	Carious teeth	8/9	OMIM:182250
64135	IFIH1	HP:0000670	Carious teeth	-	OMIM:131300
64135	IFIH1	HP:0011304	Broad thumb	2/7	OMIM:615777
64135	IFIH1	HP:0000668	Hypodontia	-	OMIM:615777
64135	IFIH1	HP:0000664	Synophrys	-	OMIM:615777
64135	IFIH1	HP:0004325	Decreased body weight	-	OMIM:182250
64135	IFIH1	HP:0004322	Short stature	HP:0040282	ORPHA:51
64135	IFIH1	HP:0004322	Short stature	6/9	OMIM:182250
64135	IFIH1	HP:0004382	Mitral valve calcification	-	OMIM:182250
64135	IFIH1	HP:0004380	Aortic valve calcification	-	OMIM:182250
64135	IFIH1	HP:0004396	Poor appetite	-	OMIM:131300
64135	IFIH1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
64135	IFIH1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
64135	IFIH1	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:51
64135	IFIH1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
64135	IFIH1	HP:0003026	Short long bone	7/7	OMIM:615777
64135	IFIH1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
64135	IFIH1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
64135	IFIH1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
64135	IFIH1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
64135	IFIH1	HP:0000737	Irritability	3/5	OMIM:615846
64135	IFIH1	HP:0000737	Irritability	HP:0040282	ORPHA:51
64135	IFIH1	HP:0000750	Delayed speech and language development	-	OMIM:615777
64135	IFIH1	HP:0000706	Eruption failure	-	OMIM:182250
64135	IFIH1	HP:0011463	Childhood onset	7/11	OMIM:182250
64135	IFIH1	HP:0011462	Young adult onset	1/11	OMIM:182250
64135	IFIH1	HP:0011461	Fetal onset	7/7	OMIM:615777
64135	IFIH1	HP:0011461	Fetal onset	2/5	OMIM:615846
64135	IFIH1	HP:0011451	Primary microcephaly	1/5	OMIM:615846
64135	IFIH1	HP:0000774	Narrow chest	2/7	OMIM:615777
64135	IFIH1	HP:0000926	Platyspondyly	1/7	OMIM:615777
64135	IFIH1	HP:0003182	Shallow acetabular fossae	-	OMIM:182250
64135	IFIH1	HP:0003180	Flat acetabular roof	-	OMIM:615777
64135	IFIH1	HP:0004482	Relative macrocephaly	-	OMIM:615777
64135	IFIH1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
64135	IFIH1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:51
64135	IFIH1	HP:0000822	Hypertension	1/5	OMIM:615846
64135	IFIH1	HP:0000821	Hypothyroidism	1/5	OMIM:615846
64135	IFIH1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:51
64135	IFIH1	HP:0000823	Delayed puberty	-	OMIM:131300
64135	IFIH1	HP:0000894	Short clavicles	-	OMIM:615777
64135	IFIH1	HP:0030880	Raynaud phenomenon	HP:0040283	ORPHA:51
64135	IFIH1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
64135	IFIH1	HP:0003281	Increased circulating ferritin concentration	1/5	OMIM:615846
64135	IFIH1	HP:0000992	Cutaneous photosensitivity	-	OMIM:182250
64135	IFIH1	HP:0000988	Skin rash	1/5	OMIM:615846
64135	IFIH1	HP:0000958	Dry skin	HP:0040282	ORPHA:51
64135	IFIH1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
64135	IFIH1	HP:0000969	Edema	2/5	OMIM:615846
64135	IFIH1	HP:0000965	Cutis marmorata	HP:0040283	ORPHA:51
64135	IFIH1	HP:0000939	Osteoporosis	-	OMIM:182250
64135	IFIH1	HP:0000938	Osteopenia	10/11	OMIM:182250
64135	IFIH1	HP:0040140	Degeneration of the striatum	HP:0040284	ORPHA:51
64135	IFIH1	HP:0100295	Muscle fiber atrophy	-	OMIM:182250
64135	IFIH1	HP:0000286	Epicanthus	1/7	OMIM:615777
64135	IFIH1	HP:0000280	Coarse facial features	2/7	OMIM:615777
64135	IFIH1	HP:0002827	Hip dislocation	-	OMIM:182250
64135	IFIH1	HP:0002827	Hip dislocation	3/7	OMIM:615777
64135	IFIH1	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:51
64135	IFIH1	HP:0006386	Hypoplastic distal radial epiphyses	-	OMIM:182250
64135	IFIH1	HP:0000252	Microcephaly	HP:0040282	ORPHA:51
64135	IFIH1	HP:0000252	Microcephaly	2/5	OMIM:615846
64135	IFIH1	HP:0000252	Microcephaly	-	OMIM:615777
64135	IFIH1	HP:0000219	Thin upper lip vermilion	7/7	OMIM:182250
64135	IFIH1	HP:0002878	Respiratory failure	1/1	OMIM:619773
64135	IFIH1	HP:0001562	Oligohydramnios	2/5	OMIM:615846
64135	IFIH1	HP:0002857	Genu valgum	-	OMIM:131300
64135	IFIH1	HP:0002857	Genu valgum	-	OMIM:182250
64135	IFIH1	HP:0001533	Slender build	-	OMIM:131300
64135	IFIH1	HP:0030038	Enchondroma	HP:0040284	ORPHA:51
64135	IFIH1	HP:0030043	Hip subluxation	-	OMIM:182250
64135	IFIH1	HP:0001511	Intrauterine growth retardation	2/5	OMIM:615846
64135	IFIH1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
64135	IFIH1	HP:0007807	Optic nerve compression	-	OMIM:131300
64135	IFIH1	HP:0012368	Flat face	7/7	OMIM:615777
64135	IFIH1	HP:0006579	Prolonged neonatal jaundice	HP:0040283	ORPHA:51
64135	IFIH1	HP:0001609	Hoarse voice	HP:0040283	ORPHA:51
64135	IFIH1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
64135	IFIH1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:51
64135	IFIH1	HP:0000365	Hearing impairment	10/67	OMIM:131300
64135	IFIH1	HP:0001698	Pericardial effusion	1/5	OMIM:615846
64135	IFIH1	HP:0000369	Low-set ears	HP:0040283	ORPHA:51
64135	IFIH1	HP:0000343	Long philtrum	1/7	OMIM:615777
64135	IFIH1	HP:0011001	Increased bone mineral density	-	OMIM:131300
64135	IFIH1	HP:0000337	Broad forehead	7/7	OMIM:182250
64135	IFIH1	HP:0001682	Subvalvular aortic stenosis	-	OMIM:182250
64135	IFIH1	HP:0001650	Aortic valve stenosis	-	OMIM:182250
64135	IFIH1	HP:0000319	Smooth philtrum	7/7	OMIM:182250
64135	IFIH1	HP:0000311	Round face	2/7	OMIM:615777
64135	IFIH1	HP:0000327	Hypoplasia of the maxilla	-	OMIM:182250
64135	IFIH1	HP:0002960	Autoimmunity	HP:0040282	ORPHA:51
64135	IFIH1	HP:0001640	Cardiomegaly	-	OMIM:182250
64135	IFIH1	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:51
64135	IFIH1	HP:0002970	Genu varum	-	OMIM:615777
64135	IFIH1	HP:0001639	Hypertrophic cardiomyopathy	1/5	OMIM:615846
64135	IFIH1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:51
64135	IFIH1	HP:0001635	Congestive heart failure	-	OMIM:182250
64135	IFIH1	HP:0000303	Mandibular prognathia	-	OMIM:131300
64135	IFIH1	HP:0005303	Aortic arch calcification	-	OMIM:182250
64135	IFIH1	HP:0012490	Panniculitis	HP:0040283	ORPHA:51
64135	IFIH1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
64135	IFIH1	HP:0000496	Abnormality of eye movement	2/5	OMIM:615846
64135	IFIH1	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:51
64135	IFIH1	HP:0012448	Delayed myelination	1/5	OMIM:615846
64135	IFIH1	HP:0012444	Brain atrophy	HP:0040282	ORPHA:51
64135	IFIH1	HP:0000470	Short neck	1/7	OMIM:615777
64135	IFIH1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
64135	IFIH1	HP:0001763	Pes planus	1/7	OMIM:615777
64135	IFIH1	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:51
64135	IFIH1	HP:0001744	Splenomegaly	2/5	OMIM:615846
64135	IFIH1	HP:0001762	Talipes equinovarus	-	OMIM:182250
64135	IFIH1	HP:0001761	Pes cavus	-	OMIM:182250
64135	IFIH1	HP:0001840	Metatarsus adductus	-	OMIM:615777
64135	IFIH1	HP:0000520	Proptosis	2/4	OMIM:131300
64135	IFIH1	HP:0000520	Proptosis	7/7	OMIM:615777
64135	IFIH1	HP:0001824	Weight loss	1/5	OMIM:615846
64135	IFIH1	HP:0000508	Ptosis	HP:0040283	ORPHA:51
64135	IFIH1	HP:0000508	Ptosis	7/7	OMIM:182250
64135	IFIH1	HP:0000501	Glaucoma	HP:0040283	ORPHA:51
64135	IFIH1	HP:0000501	Glaucoma	5/10	OMIM:182250
64135	IFIH1	HP:0001806	Onycholysis	-	OMIM:182250
64135	IFIH1	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040282	ORPHA:51
64135	IFIH1	HP:0000592	Blue sclerae	2/7	OMIM:615777
64135	IFIH1	HP:0001888	Decreased total lymphocyte count	1/1	OMIM:619773
64135	IFIH1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
64135	IFIH1	HP:0012514	Lower limb pain	4/4	OMIM:131300
64135	IFIH1	HP:0001878	Hemolytic anemia	1/5	OMIM:615846
64135	IFIH1	HP:0001873	Thrombocytopenia	2/5	OMIM:615846
64135	IFIH1	HP:0001876	Pancytopenia	1/5	OMIM:615846
64135	IFIH1	HP:0000545	Myopia	-	OMIM:182250
64170	CARD9	HP:0032259	Chronic tinea infection	-	OMIM:212050
64170	CARD9	HP:0001287	Meningitis	HP:0040283	OMIM:212050
64170	CARD9	HP:0010975	Abnormal B cell count	0/17	OMIM:212050
64170	CARD9	HP:0000007	Autosomal recessive inheritance	-	OMIM:212050
64170	CARD9	HP:0032515	Deep dermatophytosis	13/17	OMIM:212050
64170	CARD9	HP:0002716	Lymphadenopathy	-	OMIM:212050
64170	CARD9	HP:0002721	Immunodeficiency	-	OMIM:212050
64170	CARD9	HP:0040303	Decreased circulating iron concentration	10/14	OMIM:212050
64170	CARD9	HP:0032061	Severely increased total eosinophil count	9/10	OMIM:212050
64170	CARD9	HP:0003621	Juvenile onset	-	OMIM:212050
64170	CARD9	HP:0009098	Chronic oral candidiasis	6/17	OMIM:212050
64170	CARD9	HP:0011463	Childhood onset	-	OMIM:212050
64170	CARD9	HP:0040089	Abnormal total natural killer cell count	0/17	OMIM:212050
64170	CARD9	HP:0003212	Increased circulating IgE concentration	4/4	OMIM:212050
64170	CARD9	HP:6000031	Phaeohyphomycosis	-	OMIM:212050
64170	CARD9	HP:0031392	Abnormal CD4+ T cell subset proportion	0/17	OMIM:212050
64170	CARD9	HP:0031393	Abnormal CD8+ T cell proportion	0/17	OMIM:212050
64170	CARD9	HP:0012203	Onychomycosis	20/20	OMIM:212050
64170	CARD9	HP:0025708	Early young adult onset	-	OMIM:212050
64170	CARD9	HP:0001871	Abnormality of blood and blood-forming tissues	-	OMIM:212050
64175	P3H1	HP:0003784	Type 1 collagen overmodification	-	OMIM:610915
64175	P3H1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
64175	P3H1	HP:0001293	Cranial nerve compression	-	OMIM:131300
64175	P3H1	HP:0001256	Intellectual disability, mild	-	OMIM:259770
64175	P3H1	HP:0001252	Hypotonia	-	OMIM:259770
64175	P3H1	HP:0001252	Hypotonia	2/7	OMIM:615777
64175	P3H1	HP:0001249	Intellectual disability	5/7	OMIM:615777
64175	P3H1	HP:0001263	Global developmental delay	1/1	OMIM:612394
64175	P3H1	HP:0001263	Global developmental delay	1/2	OMIM:610915
64175	P3H1	HP:0001263	Global developmental delay	-	OMIM:615777
64175	P3H1	HP:0002515	Waddling gait	54/102	OMIM:131300
64175	P3H1	HP:0001382	Joint hypermobility	1/2	OMIM:610915
64175	P3H1	HP:0001382	Joint hypermobility	-	OMIM:259770
64175	P3H1	HP:0001382	Joint hypermobility	-	OMIM:615777
64175	P3H1	HP:0000023	Inguinal hernia	1/5	OMIM:610915
64175	P3H1	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
64175	P3H1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
64175	P3H1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
64175	P3H1	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
64175	P3H1	HP:0008873	Disproportionate short-limb short stature	2/2	OMIM:610915
64175	P3H1	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
64175	P3H1	HP:0008796	Femoral retroversion	1/5	OMIM:610915
64175	P3H1	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
64175	P3H1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
64175	P3H1	HP:0001324	Muscle weakness	40/96	OMIM:131300
64175	P3H1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
64175	P3H1	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
64175	P3H1	HP:0000007	Autosomal recessive inheritance	-	OMIM:610915
64175	P3H1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
64175	P3H1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
64175	P3H1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
64175	P3H1	HP:0002650	Scoliosis	1/5	OMIM:259770
64175	P3H1	HP:0002650	Scoliosis	1/1	OMIM:612394
64175	P3H1	HP:0002650	Scoliosis	1/2	OMIM:610915
64175	P3H1	HP:0002650	Scoliosis	12/14	OMIM:131300
64175	P3H1	HP:0002645	Wormian bones	1/5	OMIM:610915
64175	P3H1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
64175	P3H1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
64175	P3H1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
64175	P3H1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
64175	P3H1	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
64175	P3H1	HP:0000175	Cleft palate	2/7	OMIM:615777
64175	P3H1	HP:0002757	Recurrent fractures	4/5	OMIM:259770
64175	P3H1	HP:0002757	Recurrent fractures	5/5	OMIM:610915
64175	P3H1	HP:0002756	Pathologic fracture	-	OMIM:259770
64175	P3H1	HP:0002756	Pathologic fracture	1/1	OMIM:612394
64175	P3H1	HP:0002751	Kyphoscoliosis	-	OMIM:259770
64175	P3H1	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
64175	P3H1	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
64175	P3H1	HP:0003388	Easy fatigability	36/76	OMIM:131300
64175	P3H1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
64175	P3H1	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
64175	P3H1	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
64175	P3H1	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
64175	P3H1	HP:0002164	Nail dysplasia	1/1	OMIM:612394
64175	P3H1	HP:0010557	Overlapping fingers	1/2	OMIM:612394
64175	P3H1	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
64175	P3H1	HP:0003593	Infantile onset	1/5	OMIM:259770
64175	P3H1	HP:0003577	Congenital onset	4/5	OMIM:259770
64175	P3H1	HP:0002208	Coarse hair	1/1	OMIM:612394
64175	P3H1	HP:0003510	Severe short stature	7/7	OMIM:615777
64175	P3H1	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
64175	P3H1	HP:0025019	Arterial rupture	1/1	OMIM:612394
64175	P3H1	HP:0002315	Headache	-	OMIM:131300
64175	P3H1	HP:0004976	Knee dislocation	6/7	OMIM:615777
64175	P3H1	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
64175	P3H1	HP:0009803	Short phalanx of finger	-	OMIM:615777
64175	P3H1	HP:0001089	Iris atrophy	-	OMIM:259770
64175	P3H1	HP:0009763	Limb pain	63/92	OMIM:131300
64175	P3H1	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
64175	P3H1	HP:0003621	Juvenile onset	-	OMIM:131300
64175	P3H1	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
64175	P3H1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
64175	P3H1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
64175	P3H1	HP:6001056	Out-toeing	-	OMIM:131300
64175	P3H1	HP:0000651	Diplopia	-	OMIM:131300
64175	P3H1	HP:0000618	Blindness	5/5	OMIM:259770
64175	P3H1	HP:0001956	Truncal obesity	2/7	OMIM:615777
64175	P3H1	HP:0001903	Anemia	HP:0040283	OMIM:131300
64175	P3H1	HP:0010049	Short metacarpal	2/2	OMIM:610915
64175	P3H1	HP:0010049	Short metacarpal	-	OMIM:615777
64175	P3H1	HP:0000678	Dental crowding	-	OMIM:615777
64175	P3H1	HP:0000670	Carious teeth	-	OMIM:131300
64175	P3H1	HP:0011304	Broad thumb	2/7	OMIM:615777
64175	P3H1	HP:0000668	Hypodontia	-	OMIM:615777
64175	P3H1	HP:0000667	Phthisis bulbi	-	OMIM:259770
64175	P3H1	HP:0000664	Synophrys	-	OMIM:615777
64175	P3H1	HP:0004322	Short stature	-	OMIM:259770
64175	P3H1	HP:0004331	Decreased skull ossification	-	OMIM:610915
64175	P3H1	HP:0004396	Poor appetite	-	OMIM:131300
64175	P3H1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
64175	P3H1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
64175	P3H1	HP:0003016	Metaphyseal widening	-	OMIM:259770
64175	P3H1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
64175	P3H1	HP:0003026	Short long bone	7/7	OMIM:615777
64175	P3H1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
64175	P3H1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
64175	P3H1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
64175	P3H1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
64175	P3H1	HP:0000750	Delayed speech and language development	-	OMIM:615777
64175	P3H1	HP:0000703	Dentinogenesis imperfecta	0/2	OMIM:610915
64175	P3H1	HP:0011461	Fetal onset	5/5	OMIM:610915
64175	P3H1	HP:0011461	Fetal onset	7/7	OMIM:615777
64175	P3H1	HP:0011461	Fetal onset	2/2	OMIM:612394
64175	P3H1	HP:0000774	Narrow chest	2/7	OMIM:615777
64175	P3H1	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
64175	P3H1	HP:0003100	Slender long bone	-	OMIM:610915
64175	P3H1	HP:0003196	Short nose	1/1	OMIM:612394
64175	P3H1	HP:0000926	Platyspondyly	-	OMIM:610915
64175	P3H1	HP:0000926	Platyspondyly	-	OMIM:259770
64175	P3H1	HP:0000926	Platyspondyly	1/7	OMIM:615777
64175	P3H1	HP:0000926	Platyspondyly	1/1	OMIM:612394
64175	P3H1	HP:0003180	Flat acetabular roof	-	OMIM:615777
64175	P3H1	HP:0004482	Relative macrocephaly	-	OMIM:615777
64175	P3H1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
64175	P3H1	HP:0000883	Thin ribs	5/5	OMIM:610915
64175	P3H1	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
64175	P3H1	HP:0000823	Delayed puberty	-	OMIM:131300
64175	P3H1	HP:0000894	Short clavicles	-	OMIM:615777
64175	P3H1	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
64175	P3H1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
64175	P3H1	HP:0005855	Multiple prenatal fractures	5/5	OMIM:610915
64175	P3H1	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
64175	P3H1	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
64175	P3H1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
64175	P3H1	HP:0000939	Osteoporosis	4/5	OMIM:259770
64175	P3H1	HP:0000938	Osteopenia	5/5	OMIM:610915
64175	P3H1	HP:0000938	Osteopenia	1/5	OMIM:259770
64175	P3H1	HP:0000938	Osteopenia	1/1	OMIM:612394
64175	P3H1	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
64175	P3H1	HP:0000286	Epicanthus	1/7	OMIM:615777
64175	P3H1	HP:0000280	Coarse facial features	2/7	OMIM:615777
64175	P3H1	HP:0000260	Wide anterior fontanel	3/4	OMIM:610915
64175	P3H1	HP:0000272	Malar flattening	1/1	OMIM:612394
64175	P3H1	HP:0007773	Vitreoretinopathy	-	OMIM:259770
64175	P3H1	HP:0002827	Hip dislocation	3/7	OMIM:615777
64175	P3H1	HP:0002808	Kyphosis	-	OMIM:610915
64175	P3H1	HP:0002808	Kyphosis	1/5	OMIM:259770
64175	P3H1	HP:0000252	Microcephaly	-	OMIM:259770
64175	P3H1	HP:0000252	Microcephaly	-	OMIM:615777
64175	P3H1	HP:0001552	Barrel-shaped chest	-	OMIM:259770
64175	P3H1	HP:0001552	Barrel-shaped chest	1/5	OMIM:610915
64175	P3H1	HP:0002857	Genu valgum	-	OMIM:131300
64175	P3H1	HP:0001533	Slender build	-	OMIM:131300
64175	P3H1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
64175	P3H1	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
64175	P3H1	HP:0007807	Optic nerve compression	-	OMIM:131300
64175	P3H1	HP:0012368	Flat face	7/7	OMIM:615777
64175	P3H1	HP:0012368	Flat face	1/1	OMIM:612394
64175	P3H1	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
64175	P3H1	HP:0007875	Congenital blindness	4/5	OMIM:259770
64175	P3H1	HP:0007862	Retinal calcification	1/5	OMIM:259770
64175	P3H1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
64175	P3H1	HP:0000365	Hearing impairment	10/67	OMIM:131300
64175	P3H1	HP:0000369	Low-set ears	2/2	OMIM:612394
64175	P3H1	HP:0000343	Long philtrum	1/7	OMIM:615777
64175	P3H1	HP:0011001	Increased bone mineral density	-	OMIM:131300
64175	P3H1	HP:0002982	Tibial bowing	1/5	OMIM:259770
64175	P3H1	HP:0002982	Tibial bowing	-	OMIM:610915
64175	P3H1	HP:0002980	Femoral bowing	-	OMIM:610915
64175	P3H1	HP:0000311	Round face	1/4	OMIM:610915
64175	P3H1	HP:0000311	Round face	2/7	OMIM:615777
64175	P3H1	HP:0002986	Radial bowing	-	OMIM:610915
64175	P3H1	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
64175	P3H1	HP:0001629	Ventricular septal defect	-	OMIM:259770
64175	P3H1	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
64175	P3H1	HP:0002953	Vertebral compression fracture	2/2	OMIM:610915
64175	P3H1	HP:0002970	Genu varum	-	OMIM:615777
64175	P3H1	HP:0000307	Pointed chin	1/2	OMIM:612394
64175	P3H1	HP:0000303	Mandibular prognathia	-	OMIM:131300
64175	P3H1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
64175	P3H1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
64175	P3H1	HP:0000463	Anteverted nares	1/1	OMIM:612394
64175	P3H1	HP:0000470	Short neck	1/7	OMIM:615777
64175	P3H1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
64175	P3H1	HP:0001763	Pes planus	1/7	OMIM:615777
64175	P3H1	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
64175	P3H1	HP:0005474	Decreased calvarial ossification	2/4	OMIM:610915
64175	P3H1	HP:0000518	Cataract	1/5	OMIM:259770
64175	P3H1	HP:0000518	Cataract	1/1	OMIM:612394
64175	P3H1	HP:0001840	Metatarsus adductus	-	OMIM:615777
64175	P3H1	HP:0000520	Proptosis	1/4	OMIM:610915
64175	P3H1	HP:0000520	Proptosis	2/4	OMIM:131300
64175	P3H1	HP:0000520	Proptosis	7/7	OMIM:615777
64175	P3H1	HP:0000592	Blue sclerae	2/7	OMIM:615777
64175	P3H1	HP:0000586	Shallow orbits	1/1	OMIM:612394
64175	P3H1	HP:0000568	Microphthalmia	1/5	OMIM:259770
64175	P3H1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
64175	P3H1	HP:0012514	Lower limb pain	4/4	OMIM:131300
64175	P3H1	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
64175	P3H1	HP:0000545	Myopia	1/1	OMIM:612394
64207	IRF2BPL	HP:0002403	Positive Romberg sign	1/5	OMIM:618088
64207	IRF2BPL	HP:0001272	Cerebellar atrophy	2/7	OMIM:618088
64207	IRF2BPL	HP:0001250	Seizure	7/7	OMIM:618088
64207	IRF2BPL	HP:0001252	Hypotonia	-	OMIM:618088
64207	IRF2BPL	HP:0001251	Ataxia	3/7	OMIM:618088
64207	IRF2BPL	HP:0001249	Intellectual disability	7/7	OMIM:618088
64207	IRF2BPL	HP:0001266	Choreoathetosis	2/7	OMIM:618088
64207	IRF2BPL	HP:0001260	Dysarthria	-	OMIM:618088
64207	IRF2BPL	HP:0001263	Global developmental delay	3/6	OMIM:618088
64207	IRF2BPL	HP:0001257	Spasticity	2/7	OMIM:618088
64207	IRF2BPL	HP:0007371	Corpus callosum atrophy	1/7	OMIM:618088
64207	IRF2BPL	HP:0002505	Loss of ambulation	6/7	OMIM:618088
64207	IRF2BPL	HP:0001347	Hyperreflexia	1/5	OMIM:618088
64207	IRF2BPL	HP:0001332	Dystonia	4/7	OMIM:618088
64207	IRF2BPL	HP:0001344	Absent speech	5/5	OMIM:618088
64207	IRF2BPL	HP:0000006	Autosomal dominant inheritance	-	OMIM:618088
64207	IRF2BPL	HP:0001310	Dysmetria	-	OMIM:618088
64207	IRF2BPL	HP:0002015	Dysphagia	3/7	OMIM:618088
64207	IRF2BPL	HP:0002059	Cerebral atrophy	2/7	OMIM:618088
64207	IRF2BPL	HP:0003487	Babinski sign	1/5	OMIM:618088
64207	IRF2BPL	HP:0003593	Infantile onset	2/7	OMIM:618088
64207	IRF2BPL	HP:0002376	Developmental regression	5/7	OMIM:618088
64207	IRF2BPL	HP:0002371	Loss of speech	-	OMIM:618088
64207	IRF2BPL	HP:0003676	Progressive	-	OMIM:618088
64207	IRF2BPL	HP:0003621	Juvenile onset	2/7	OMIM:618088
64207	IRF2BPL	HP:0000639	Nystagmus	1/7	OMIM:618088
64207	IRF2BPL	HP:0011463	Childhood onset	3/7	OMIM:618088
64207	IRF2BPL	HP:0030319	Weakness of facial musculature	-	OMIM:618088
64207	IRF2BPL	HP:0000565	Esotropia	1/7	OMIM:618088
64208	POPDC3	HP:0003701	Proximal muscle weakness	-	OMIM:618848
64208	POPDC3	HP:0003713	Muscle fiber necrosis	-	OMIM:618848
64208	POPDC3	HP:0002527	Falls	-	OMIM:618848
64208	POPDC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:618848
64208	POPDC3	HP:0008994	Proximal muscle weakness in lower limbs	-	OMIM:618848
64208	POPDC3	HP:0008981	Calf muscle hypertrophy	-	OMIM:618848
64208	POPDC3	HP:0003557	Increased variability in muscle fiber diameter	-	OMIM:618848
64208	POPDC3	HP:0009046	Difficulty running	-	OMIM:618848
64208	POPDC3	HP:0030234	Highly elevated creatine kinase	-	OMIM:618848
64208	POPDC3	HP:0012548	Fatty replacement of skeletal muscle	-	OMIM:618848
64218	SEMA4A	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
64218	SEMA4A	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
64218	SEMA4A	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
64218	SEMA4A	HP:0001123	Visual field defect	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0009926	Epiphora	-	OMIM:610283
64218	SEMA4A	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0001276	Hypertonia	HP:0040282	ORPHA:440437
64218	SEMA4A	HP:0001288	Gait disturbance	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0001250	Seizure	HP:0040282	ORPHA:440437
64218	SEMA4A	HP:0001252	Hypotonia	HP:0040282	ORPHA:440437
64218	SEMA4A	HP:0001260	Dysarthria	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:440437
64218	SEMA4A	HP:0001371	Flexion contracture	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0000007	Autosomal recessive inheritance	-	OMIM:610282
64218	SEMA4A	HP:0000007	Autosomal recessive inheritance	-	OMIM:610283
64218	SEMA4A	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
64218	SEMA4A	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
64218	SEMA4A	HP:0012174	Glioblastoma multiforme	HP:0040281	ORPHA:440437
64218	SEMA4A	HP:0012126	Stomach cancer	HP:0040284	ORPHA:440437
64218	SEMA4A	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
64218	SEMA4A	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
64218	SEMA4A	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
64218	SEMA4A	HP:0007663	Reduced visual acuity	-	OMIM:610282
64218	SEMA4A	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
64218	SEMA4A	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
64218	SEMA4A	HP:0012113	Abnormal circulating creatine concentration	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0001402	Hepatocellular carcinoma	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0002024	Malabsorption	HP:0040281	ORPHA:440437
64218	SEMA4A	HP:0002019	Constipation	HP:0040281	ORPHA:440437
64218	SEMA4A	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:440437
64218	SEMA4A	HP:0002027	Abdominal pain	HP:0040281	ORPHA:440437
64218	SEMA4A	HP:0002076	Migraine	HP:0040282	ORPHA:440437
64218	SEMA4A	HP:0100571	Cardiac diverticulum	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0010526	Dysgraphia	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0010524	Disturbed sensory perception	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0003401	Paresthesia	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:440437
64218	SEMA4A	HP:0009726	Renal neoplasm	-	ORPHA:440437
64218	SEMA4A	HP:0100743	Neoplasm of the rectum	HP:0040282	ORPHA:440437
64218	SEMA4A	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:440437
64218	SEMA4A	HP:0010622	Neoplasm of the skeletal system	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0002376	Developmental regression	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0002354	Memory impairment	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0100660	Dyskinesia	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0100615	Ovarian neoplasm	-	ORPHA:440437
64218	SEMA4A	HP:0010786	Urinary tract neoplasm	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0010784	Uterine neoplasm	HP:0040284	ORPHA:440437
64218	SEMA4A	HP:0003621	Juvenile onset	8/19	OMIM:180100
64218	SEMA4A	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
64218	SEMA4A	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
64218	SEMA4A	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
64218	SEMA4A	HP:0000618	Blindness	HP:0040281	ORPHA:791
64218	SEMA4A	HP:0000618	Blindness	-	OMIM:610282
64218	SEMA4A	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
64218	SEMA4A	HP:0000613	Photophobia	-	OMIM:610283
64218	SEMA4A	HP:0000613	Photophobia	HP:0040281	ORPHA:791
64218	SEMA4A	HP:0000608	Macular degeneration	-	OMIM:610283
64218	SEMA4A	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
64218	SEMA4A	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
64218	SEMA4A	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
64218	SEMA4A	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
64218	SEMA4A	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
64218	SEMA4A	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
64218	SEMA4A	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
64218	SEMA4A	HP:0000662	Nyctalopia	26/28	OMIM:180100
64218	SEMA4A	HP:0000662	Nyctalopia	-	OMIM:610282
64218	SEMA4A	HP:0000662	Nyctalopia	-	OMIM:610283
64218	SEMA4A	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
64218	SEMA4A	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0100013	Neoplasm of the breast	-	ORPHA:440437
64218	SEMA4A	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0000738	Hallucinations	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0000737	Irritability	HP:0040282	ORPHA:440437
64218	SEMA4A	HP:0000739	Anxiety	HP:0040282	ORPHA:440437
64218	SEMA4A	HP:0000716	Depression	HP:0040282	ORPHA:440437
64218	SEMA4A	HP:0000708	Atypical behavior	HP:0040282	ORPHA:440437
64218	SEMA4A	HP:0011463	Childhood onset	3/19	OMIM:180100
64218	SEMA4A	HP:0011462	Young adult onset	8/19	OMIM:180100
64218	SEMA4A	HP:0030786	Photopsia	HP:0040283	ORPHA:791
64218	SEMA4A	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
64218	SEMA4A	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
64218	SEMA4A	HP:0100273	Neoplasm of the colon	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
64218	SEMA4A	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
64218	SEMA4A	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
64218	SEMA4A	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
64218	SEMA4A	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
64218	SEMA4A	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
64218	SEMA4A	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
64218	SEMA4A	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:610283
64218	SEMA4A	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0002893	Pituitary adenoma	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
64218	SEMA4A	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
64218	SEMA4A	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
64218	SEMA4A	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:610283
64218	SEMA4A	HP:0012378	Fatigue	HP:0040281	ORPHA:440437
64218	SEMA4A	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
64218	SEMA4A	HP:0007994	Peripheral visual field loss	-	OMIM:610283
64218	SEMA4A	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
64218	SEMA4A	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
64218	SEMA4A	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
64218	SEMA4A	HP:0006725	Pancreatic adenocarcinoma	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
64218	SEMA4A	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
64218	SEMA4A	HP:0000510	Rod-cone dystrophy	-	OMIM:610282
64218	SEMA4A	HP:0000510	Rod-cone dystrophy	-	OMIM:610283
64218	SEMA4A	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
64218	SEMA4A	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
64218	SEMA4A	HP:0000529	Progressive visual loss	-	OMIM:610283
64218	SEMA4A	HP:0001824	Weight loss	HP:0040281	ORPHA:440437
64218	SEMA4A	HP:0000505	Visual impairment	HP:0040283	ORPHA:440437
64218	SEMA4A	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
64218	SEMA4A	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
64218	SEMA4A	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
64218	SEMA4A	HP:0000575	Scotoma	5/18	OMIM:180100
64218	SEMA4A	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
64218	SEMA4A	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
64218	SEMA4A	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
64218	SEMA4A	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
64218	SEMA4A	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
64218	SEMA4A	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
64218	SEMA4A	HP:0000543	Optic disc pallor	1/1	OMIM:180100
64218	SEMA4A	HP:0000545	Myopia	-	OMIM:180100
64220	STRA6	HP:0001290	Generalized hypotonia	-	OMIM:601186
64220	STRA6	HP:0100800	Aplasia/Hypoplasia of the pancreas	HP:0040283	ORPHA:2470
64220	STRA6	HP:0001252	Hypotonia	HP:0040283	ORPHA:2470
64220	STRA6	HP:0001252	Hypotonia	-	OMIM:601186
64220	STRA6	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2470
64220	STRA6	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:2470
64220	STRA6	HP:0003811	Neonatal death	1/3	OMIM:601186
64220	STRA6	HP:0000089	Renal hypoplasia	-	OMIM:601186
64220	STRA6	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:2470
64220	STRA6	HP:0000085	Horseshoe kidney	-	OMIM:601186
64220	STRA6	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:2470
64220	STRA6	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:2470
64220	STRA6	HP:0000023	Inguinal hernia	-	OMIM:601186
64220	STRA6	HP:0000028	Cryptorchidism	-	OMIM:601186
64220	STRA6	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2470
64220	STRA6	HP:0000013	Hypoplasia of the uterus	-	OMIM:601186
64220	STRA6	HP:0000007	Autosomal recessive inheritance	-	OMIM:601186
64220	STRA6	HP:0002627	Right aortic arch with mirror image branching	-	OMIM:601186
64220	STRA6	HP:0007633	Bilateral microphthalmos	-	OMIM:601186
64220	STRA6	HP:0006270	Hypoplastic spleen	-	OMIM:601186
64220	STRA6	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:2470
64220	STRA6	HP:0000125	Pelvic kidney	1/3	OMIM:601186
64220	STRA6	HP:0025408	Abnormal spleen morphology	HP:0040283	ORPHA:2470
64220	STRA6	HP:0000126	Hydronephrosis	-	OMIM:601186
64220	STRA6	HP:0005944	Bilateral lung agenesis	-	OMIM:601186
64220	STRA6	HP:0002089	Pulmonary hypoplasia	-	OMIM:601186
64220	STRA6	HP:0002089	Pulmonary hypoplasia	HP:0040282	ORPHA:2470
64220	STRA6	HP:0002088	Abnormal lung morphology	HP:0040282	ORPHA:2470
64220	STRA6	HP:0002093	Respiratory insufficiency	1/3	OMIM:601186
64220	STRA6	HP:0002187	Intellectual disability, profound	1/1	OMIM:601186
64220	STRA6	HP:0033208	Alveolar capillary dysplasia	1/3	OMIM:601186
64220	STRA6	HP:0004712	Renal malrotation	-	OMIM:601186
64220	STRA6	HP:0003577	Congenital onset	2/3	OMIM:601186
64220	STRA6	HP:0003510	Severe short stature	1/3	OMIM:601186
64220	STRA6	HP:0004935	Pulmonary artery atresia	1/3	OMIM:601186
64220	STRA6	HP:0020186	Multilobulated spleen	-	OMIM:601186
64220	STRA6	HP:0004322	Short stature	-	OMIM:601186
64220	STRA6	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:2470
64220	STRA6	HP:0034198	Second trimester onset	1/3	OMIM:601186
64220	STRA6	HP:0012736	Profound global developmental delay	1/3	OMIM:601186
64220	STRA6	HP:0000776	Congenital diaphragmatic hernia	1/3	OMIM:601186
64220	STRA6	HP:0000776	Congenital diaphragmatic hernia	HP:0040282	ORPHA:2470
64220	STRA6	HP:0009110	Diaphragmatic eventration	-	OMIM:601186
64220	STRA6	HP:0000813	Bicornuate uterus	-	OMIM:601186
64220	STRA6	HP:0001508	Failure to thrive	HP:0040283	ORPHA:2470
64220	STRA6	HP:0001511	Intrauterine growth retardation	-	OMIM:601186
64220	STRA6	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:2470
64220	STRA6	HP:0005156	Hypoplastic left atrium	-	OMIM:601186
64220	STRA6	HP:0000369	Low-set ears	2/3	OMIM:601186
64220	STRA6	HP:0000369	Low-set ears	HP:0040283	ORPHA:2470
64220	STRA6	HP:0001680	Coarctation of aorta	-	OMIM:601186
64220	STRA6	HP:0000347	Micrognathia	2/3	OMIM:601186
64220	STRA6	HP:0001643	Patent ductus arteriosus	1/3	OMIM:601186
64220	STRA6	HP:0001642	Pulmonic stenosis	1/3	OMIM:601186
64220	STRA6	HP:0001660	Truncus arteriosus	HP:0040283	OMIM:601186
64220	STRA6	HP:0001629	Ventricular septal defect	1/3	OMIM:601186
64220	STRA6	HP:0001636	Tetralogy of Fallot	-	OMIM:601186
64220	STRA6	HP:0001631	Atrial septal defect	-	OMIM:601186
64220	STRA6	HP:0005311	Agenesis of pulmonary vessels	-	OMIM:601186
64220	STRA6	HP:0001734	Annular pancreas	HP:0040283	ORPHA:2470
64220	STRA6	HP:0001750	Single ventricle	1/3	OMIM:601186
64220	STRA6	HP:0000431	Wide nasal bridge	2/3	OMIM:601186
64220	STRA6	HP:0000528	Anophthalmia	3/3	OMIM:601186
64220	STRA6	HP:0000528	Anophthalmia	HP:0040281	ORPHA:2470
64220	STRA6	HP:0000581	Blepharophimosis	2/3	OMIM:601186
64220	STRA6	HP:0000568	Microphthalmia	HP:0040281	ORPHA:2470
64221	ROBO3	HP:0009921	Duane anomaly	HP:0040282	ORPHA:2744
64221	ROBO3	HP:0001290	Generalized hypotonia	1/2	OMIM:607313
64221	ROBO3	HP:0001250	Seizure	HP:0040283	ORPHA:2744
64221	ROBO3	HP:0001252	Hypotonia	HP:0040282	ORPHA:2744
64221	ROBO3	HP:0001263	Global developmental delay	1/1	OMIM:607313
64221	ROBO3	HP:0025336	Delayed ability to sit	2/2	OMIM:607313
64221	ROBO3	HP:0001357	Plagiocephaly	1/2	OMIM:607313
64221	ROBO3	HP:0000007	Autosomal recessive inheritance	-	OMIM:607313
64221	ROBO3	HP:0002650	Scoliosis	HP:0040281	ORPHA:2744
64221	ROBO3	HP:0001321	Cerebellar hypoplasia	-	OMIM:607313
64221	ROBO3	HP:0007650	Progressive ophthalmoplegia	-	OMIM:607313
64221	ROBO3	HP:0008936	Axial hypotonia	1/2	OMIM:607313
64221	ROBO3	HP:0012110	Hypoplasia of the pons	2/2	OMIM:607313
64221	ROBO3	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:2744
64221	ROBO3	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:2744
64221	ROBO3	HP:0003593	Infantile onset	1/2	OMIM:607313
64221	ROBO3	HP:0003577	Congenital onset	1/2	OMIM:607313
64221	ROBO3	HP:0003508	Proportionate short stature	HP:0040282	ORPHA:2744
64221	ROBO3	HP:0000639	Nystagmus	HP:0040282	ORPHA:2744
64221	ROBO3	HP:0000639	Nystagmus	2/2	OMIM:607313
64221	ROBO3	HP:0000634	Impaired ocular abduction	1/2	OMIM:607313
64221	ROBO3	HP:0003198	Myopathy	HP:0040282	ORPHA:2744
64221	ROBO3	HP:0000256	Macrocephaly	1/2	OMIM:607313
64221	ROBO3	HP:0002808	Kyphosis	HP:0040281	ORPHA:2744
64221	ROBO3	HP:0000252	Microcephaly	HP:0040282	ORPHA:2744
64221	ROBO3	HP:0007817	Horizontal supranuclear gaze palsy	HP:0040281	ORPHA:2744
64221	ROBO3	HP:0007817	Horizontal supranuclear gaze palsy	-	OMIM:607313
64221	ROBO3	HP:0002944	Thoracolumbar scoliosis	2/2	OMIM:607313
64221	ROBO3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:2744
64221	ROBO3	HP:0000484	Hyperopic astigmatism	1/2	OMIM:607313
64221	ROBO3	HP:0000486	Strabismus	HP:0040282	ORPHA:2744
64221	ROBO3	HP:0000473	Torticollis	2/2	OMIM:607313
64221	ROBO3	HP:0000470	Short neck	HP:0040282	ORPHA:2744
64221	ROBO3	HP:0000505	Visual impairment	HP:0040282	ORPHA:2744
64221	ROBO3	HP:0000565	Esotropia	1/2	OMIM:607313
64240	ABCG5	HP:0001138	Optic neuropathy	HP:0040284	ORPHA:391665
64240	ABCG5	HP:0010874	Tendon xanthomatosis	HP:0040283	ORPHA:391665
64240	ABCG5	HP:0010874	Tendon xanthomatosis	11/11	OMIM:618666
64240	ABCG5	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:391665
64240	ABCG5	HP:0000007	Autosomal recessive inheritance	-	OMIM:618666
64240	ABCG5	HP:0002094	Dyspnea	HP:0040282	ORPHA:391665
64240	ABCG5	HP:0033341	Elevated circulating sitosterol concentration	-	OMIM:618666
64240	ABCG5	HP:0033341	Elevated circulating sitosterol concentration	HP:0040282	ORPHA:2882
64240	ABCG5	HP:0007201	Cerebral artery atherosclerosis	HP:0040282	ORPHA:391665
64240	ABCG5	HP:0004963	Calcification of the aorta	HP:0040283	ORPHA:391665
64240	ABCG5	HP:0004950	Peripheral arterial stenosis	HP:0040282	ORPHA:391665
64240	ABCG5	HP:0001920	Renal artery stenosis	HP:0040282	ORPHA:391665
64240	ABCG5	HP:0001902	Giant platelets	HP:0040282	ORPHA:2882
64240	ABCG5	HP:0012638	Abnormal nervous system physiology	HP:0040284	ORPHA:391665
64240	ABCG5	HP:0003077	Hyperlipidemia	HP:0040280	ORPHA:391665
64240	ABCG5	HP:0004381	Supravalvular aortic stenosis	HP:0040283	ORPHA:391665
64240	ABCG5	HP:0000799	Renal steatosis	HP:0040283	ORPHA:391665
64240	ABCG5	HP:0004446	Stomatocytosis	HP:0040282	ORPHA:2882
64240	ABCG5	HP:0003124	Hypercholesterolemia	11/11	OMIM:618666
64240	ABCG5	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:2882
64240	ABCG5	HP:0003124	Hypercholesterolemia	HP:0040280	ORPHA:391665
64240	ABCG5	HP:0004416	Precocious atherosclerosis	HP:0040281	ORPHA:391665
64240	ABCG5	HP:0003141	Increased LDL cholesterol concentration	HP:0040280	ORPHA:391665
64240	ABCG5	HP:0000822	Hypertension	HP:0040282	ORPHA:391665
64240	ABCG5	HP:0030882	Coronary artery aneurysm	HP:0040284	ORPHA:391665
64240	ABCG5	HP:0100261	Abnormal tendon morphology	HP:0040282	ORPHA:391665
64240	ABCG5	HP:0000991	Xanthomatosis	HP:0040283	ORPHA:391665
64240	ABCG5	HP:0000991	Xanthomatosis	HP:0040282	ORPHA:2882
64240	ABCG5	HP:0040185	Macrothrombocytopenia	HP:0040282	ORPHA:2882
64240	ABCG5	HP:0002829	Arthralgia	HP:0040283	ORPHA:391665
64240	ABCG5	HP:0002829	Arthralgia	HP:0040282	ORPHA:2882
64240	ABCG5	HP:0005059	Arthralgia/arthritis	HP:0040283	ORPHA:2882
64240	ABCG5	HP:0012397	Aortic atherosclerotic lesion	HP:0040282	ORPHA:391665
64240	ABCG5	HP:0012373	Abnormal eye physiology	HP:0040284	ORPHA:391665
64240	ABCG5	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:2882
64240	ABCG5	HP:0005177	Premature arteriosclerosis	HP:0040281	ORPHA:391665
64240	ABCG5	HP:0005181	Premature coronary artery atherosclerosis	HP:0040282	ORPHA:391665
64240	ABCG5	HP:0005181	Premature coronary artery atherosclerosis	-	OMIM:618666
64240	ABCG5	HP:0005181	Premature coronary artery atherosclerosis	HP:0040282	ORPHA:2882
64240	ABCG5	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:391665
64240	ABCG5	HP:0001681	Angina pectoris	HP:0040282	ORPHA:391665
64240	ABCG5	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:391665
64240	ABCG5	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:2882
64240	ABCG5	HP:0001645	Sudden cardiac death	HP:0040282	ORPHA:391665
64240	ABCG5	HP:0030148	Heart murmur	HP:0040282	ORPHA:391665
64240	ABCG5	HP:0001658	Myocardial infarction	HP:0040282	ORPHA:391665
64240	ABCG5	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:391665
64240	ABCG5	HP:0006693	Myocardial steatosis	HP:0040282	ORPHA:391665
64240	ABCG5	HP:0001744	Splenomegaly	HP:0040282	ORPHA:2882
64240	ABCG5	HP:3000062	Abnormal internal carotid artery morphology	HP:0040282	ORPHA:391665
64240	ABCG5	HP:0001878	Hemolytic anemia	HP:0040282	ORPHA:2882
64241	ABCG8	HP:0001138	Optic neuropathy	HP:0040284	ORPHA:391665
64241	ABCG8	HP:0001114	Xanthelasma	1/1	OMIM:210250
64241	ABCG8	HP:0010874	Tendon xanthomatosis	HP:0040283	ORPHA:391665
64241	ABCG8	HP:0010982	Polygenic inheritance	-	OMIM:611465
64241	ABCG8	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:391665
64241	ABCG8	HP:0001369	Arthritis	-	OMIM:210250
64241	ABCG8	HP:0000007	Autosomal recessive inheritance	-	OMIM:210250
64241	ABCG8	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:210250
64241	ABCG8	HP:0031290	Tuberous xanthoma	-	OMIM:210250
64241	ABCG8	HP:0002027	Abdominal pain	-	OMIM:210250
64241	ABCG8	HP:0100546	Carotid artery stenosis	1/1	OMIM:210250
64241	ABCG8	HP:0002094	Dyspnea	HP:0040282	ORPHA:391665
64241	ABCG8	HP:0008158	Hyperapobetalipoproteinemia	-	OMIM:210250
64241	ABCG8	HP:0003581	Adult onset	1/1	OMIM:210250
64241	ABCG8	HP:0004870	Chronic hemolytic anemia	-	OMIM:210250
64241	ABCG8	HP:0003540	Impaired platelet aggregation	-	OMIM:210250
64241	ABCG8	HP:0033341	Elevated circulating sitosterol concentration	HP:0040282	ORPHA:2882
64241	ABCG8	HP:0033341	Elevated circulating sitosterol concentration	-	OMIM:210250
64241	ABCG8	HP:0004802	Episodic hemolytic anemia	-	OMIM:210250
64241	ABCG8	HP:0007201	Cerebral artery atherosclerosis	HP:0040282	ORPHA:391665
64241	ABCG8	HP:0001084	Corneal arcus	1/1	OMIM:210250
64241	ABCG8	HP:0001081	Cholelithiasis	-	OMIM:611465
64241	ABCG8	HP:0004963	Calcification of the aorta	HP:0040283	ORPHA:391665
64241	ABCG8	HP:0020181	Reduced haptoglobin level	1/1	OMIM:210250
64241	ABCG8	HP:0004950	Peripheral arterial stenosis	HP:0040282	ORPHA:391665
64241	ABCG8	HP:0001923	Reticulocytosis	1/1	OMIM:210250
64241	ABCG8	HP:0001920	Renal artery stenosis	HP:0040282	ORPHA:391665
64241	ABCG8	HP:0001903	Anemia	1/1	OMIM:210250
64241	ABCG8	HP:0001902	Giant platelets	HP:0040282	ORPHA:2882
64241	ABCG8	HP:0001902	Giant platelets	1/1	OMIM:210250
64241	ABCG8	HP:0012638	Abnormal nervous system physiology	HP:0040284	ORPHA:391665
64241	ABCG8	HP:0003077	Hyperlipidemia	HP:0040280	ORPHA:391665
64241	ABCG8	HP:0004381	Supravalvular aortic stenosis	HP:0040283	ORPHA:391665
64241	ABCG8	HP:0000799	Renal steatosis	HP:0040283	ORPHA:391665
64241	ABCG8	HP:0004446	Stomatocytosis	HP:0040282	ORPHA:2882
64241	ABCG8	HP:0004446	Stomatocytosis	1/1	OMIM:210250
64241	ABCG8	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:2882
64241	ABCG8	HP:0003124	Hypercholesterolemia	HP:0040280	ORPHA:391665
64241	ABCG8	HP:0003124	Hypercholesterolemia	1/1	OMIM:210250
64241	ABCG8	HP:0004416	Precocious atherosclerosis	HP:0040281	ORPHA:391665
64241	ABCG8	HP:0003141	Increased LDL cholesterol concentration	HP:0040280	ORPHA:391665
64241	ABCG8	HP:0000822	Hypertension	HP:0040282	ORPHA:391665
64241	ABCG8	HP:0030882	Coronary artery aneurysm	HP:0040284	ORPHA:391665
64241	ABCG8	HP:0100261	Abnormal tendon morphology	HP:0040282	ORPHA:391665
64241	ABCG8	HP:0000991	Xanthomatosis	HP:0040283	ORPHA:391665
64241	ABCG8	HP:0000991	Xanthomatosis	HP:0040282	ORPHA:2882
64241	ABCG8	HP:0040185	Macrothrombocytopenia	HP:0040282	ORPHA:2882
64241	ABCG8	HP:0002829	Arthralgia	-	OMIM:210250
64241	ABCG8	HP:0002829	Arthralgia	HP:0040283	ORPHA:391665
64241	ABCG8	HP:0002829	Arthralgia	HP:0040282	ORPHA:2882
64241	ABCG8	HP:0005059	Arthralgia/arthritis	HP:0040283	ORPHA:2882
64241	ABCG8	HP:0012397	Aortic atherosclerotic lesion	HP:0040282	ORPHA:391665
64241	ABCG8	HP:0012373	Abnormal eye physiology	HP:0040284	ORPHA:391665
64241	ABCG8	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:2882
64241	ABCG8	HP:0005177	Premature arteriosclerosis	HP:0040281	ORPHA:391665
64241	ABCG8	HP:0005181	Premature coronary artery atherosclerosis	HP:0040282	ORPHA:391665
64241	ABCG8	HP:0005181	Premature coronary artery atherosclerosis	HP:0040282	ORPHA:2882
64241	ABCG8	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:391665
64241	ABCG8	HP:0001681	Angina pectoris	HP:0040282	ORPHA:391665
64241	ABCG8	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:391665
64241	ABCG8	HP:0001677	Coronary artery atherosclerosis	1/1	OMIM:210250
64241	ABCG8	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:2882
64241	ABCG8	HP:0001645	Sudden cardiac death	HP:0040282	ORPHA:391665
64241	ABCG8	HP:0030148	Heart murmur	HP:0040282	ORPHA:391665
64241	ABCG8	HP:0001658	Myocardial infarction	HP:0040282	ORPHA:391665
64241	ABCG8	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:391665
64241	ABCG8	HP:0006693	Myocardial steatosis	HP:0040282	ORPHA:391665
64241	ABCG8	HP:0001744	Splenomegaly	1/1	OMIM:210250
64241	ABCG8	HP:0001744	Splenomegaly	HP:0040282	ORPHA:2882
64241	ABCG8	HP:3000062	Abnormal internal carotid artery morphology	HP:0040282	ORPHA:391665
64241	ABCG8	HP:0001892	Abnormal bleeding	-	OMIM:210250
64241	ABCG8	HP:0001878	Hemolytic anemia	HP:0040282	ORPHA:2882
64241	ABCG8	HP:0001873	Thrombocytopenia	1/1	OMIM:210250
64321	SOX17	HP:0000072	Hydroureter	1/4	OMIM:613674
64321	SOX17	HP:0000074	Ureteropelvic junction obstruction	1/4	OMIM:613674
64321	SOX17	HP:0033737	Grade III vesicoureteral reflux	1/4	OMIM:613674
64321	SOX17	HP:0000010	Recurrent urinary tract infections	1/4	OMIM:613674
64321	SOX17	HP:0000006	Autosomal dominant inheritance	-	OMIM:613674
64321	SOX17	HP:0033741	Grade IV vesicoureteral reflux	1/4	OMIM:613674
64321	SOX17	HP:0000126	Hydronephrosis	2/4	OMIM:613674
64321	SOX17	HP:0001561	Polyhydramnios	1/4	OMIM:613674
64321	SOX17	HP:0012450	Chronic constipation	2/4	OMIM:613674
64321	SOX17	HP:0012572	Ureter duplex	2/4	OMIM:613674
64324	NSD1	HP:0001176	Large hands	HP:0040283	ORPHA:821
64324	NSD1	HP:0001176	Large hands	5/5	OMIM:117550
64324	NSD1	HP:0001176	Large hands	HP:0040282	ORPHA:3447
64324	NSD1	HP:0002474	Expressive language delay	-	OMIM:117550
64324	NSD1	HP:0002442	Dyscalculia	HP:0040283	ORPHA:821
64324	NSD1	HP:0010957	Congenital posterior urethral valve	HP:0040284	ORPHA:821
64324	NSD1	HP:0009931	Enlarged naris	1/1	OMIM:117550
64324	NSD1	HP:0009890	High anterior hairline	1/1	OMIM:117550
64324	NSD1	HP:0010880	Increased nuchal translucency	HP:0040282	ORPHA:1627
64324	NSD1	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:821
64324	NSD1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
64324	NSD1	HP:0025268	Stuttering	1/1	OMIM:117550
64324	NSD1	HP:0001293	Cranial nerve compression	-	OMIM:131300
64324	NSD1	HP:0001276	Hypertonia	HP:0040281	ORPHA:3447
64324	NSD1	HP:0001270	Motor delay	HP:0040282	ORPHA:1627
64324	NSD1	HP:0001270	Motor delay	2/2	OMIM:117550
64324	NSD1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:821
64324	NSD1	HP:0001250	Seizure	HP:0040282	ORPHA:821
64324	NSD1	HP:0001250	Seizure	-	OMIM:117550
64324	NSD1	HP:0001250	Seizure	HP:0040283	ORPHA:228415
64324	NSD1	HP:0001252	Hypotonia	HP:0040282	ORPHA:821
64324	NSD1	HP:0001252	Hypotonia	4/4	OMIM:117550
64324	NSD1	HP:0001252	Hypotonia	HP:0040282	ORPHA:1627
64324	NSD1	HP:0001252	Hypotonia	2/7	OMIM:615777
64324	NSD1	HP:0001249	Intellectual disability	2/2	OMIM:117550
64324	NSD1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3447
64324	NSD1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:228415
64324	NSD1	HP:0001249	Intellectual disability	5/7	OMIM:615777
64324	NSD1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:821
64324	NSD1	HP:0001263	Global developmental delay	2/2	OMIM:117550
64324	NSD1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3447
64324	NSD1	HP:0001263	Global developmental delay	-	OMIM:615777
64324	NSD1	HP:0001257	Spasticity	HP:0040281	ORPHA:3447
64324	NSD1	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:3447
64324	NSD1	HP:0002557	Hypoplastic nipples	HP:0040282	ORPHA:1627
64324	NSD1	HP:0002572	Episodic vomiting	1/1	OMIM:117550
64324	NSD1	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:3447
64324	NSD1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:3447
64324	NSD1	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:821
64324	NSD1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:821
64324	NSD1	HP:0002515	Waddling gait	54/102	OMIM:131300
64324	NSD1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:821
64324	NSD1	HP:0000098	Tall stature	HP:0040281	ORPHA:821
64324	NSD1	HP:0000098	Tall stature	3/3	OMIM:117550
64324	NSD1	HP:0000098	Tall stature	HP:0040281	ORPHA:3447
64324	NSD1	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:821
64324	NSD1	HP:0000077	Abnormality of the kidney	-	OMIM:117550
64324	NSD1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:821
64324	NSD1	HP:0000073	Ureteral duplication	HP:0040284	ORPHA:821
64324	NSD1	HP:0000074	Ureteropelvic junction obstruction	HP:0040284	ORPHA:821
64324	NSD1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:821
64324	NSD1	HP:0001387	Joint stiffness	HP:0040282	ORPHA:3447
64324	NSD1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:821
64324	NSD1	HP:0001382	Joint hypermobility	1/1	OMIM:117550
64324	NSD1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:3447
64324	NSD1	HP:0001382	Joint hypermobility	-	OMIM:615777
64324	NSD1	HP:0000047	Hypospadias	HP:0040284	ORPHA:821
64324	NSD1	HP:0000023	Inguinal hernia	HP:0040284	ORPHA:821
64324	NSD1	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:3447
64324	NSD1	HP:0001347	Hyperreflexia	-	OMIM:117550
64324	NSD1	HP:0001363	Craniosynostosis	HP:0040284	ORPHA:821
64324	NSD1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
64324	NSD1	HP:0000034	Hydrocele testis	HP:0040284	ORPHA:821
64324	NSD1	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:821
64324	NSD1	HP:0000028	Cryptorchidism	2/2	OMIM:117550
64324	NSD1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:3447
64324	NSD1	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:1627
64324	NSD1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
64324	NSD1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:3447
64324	NSD1	HP:0006155	Long phalanx of finger	1/3	OMIM:117550
64324	NSD1	HP:0002664	Neoplasm	HP:0040284	ORPHA:821
64324	NSD1	HP:0001328	Specific learning disability	HP:0040281	ORPHA:228415
64324	NSD1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
64324	NSD1	HP:0001324	Muscle weakness	40/96	OMIM:131300
64324	NSD1	HP:0001344	Absent speech	1/1	OMIM:117550
64324	NSD1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
64324	NSD1	HP:0001338	Partial agenesis of the corpus callosum	-	OMIM:117550
64324	NSD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
64324	NSD1	HP:0001337	Tremor	HP:0040283	ORPHA:821
64324	NSD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:117550
64324	NSD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
64324	NSD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
64324	NSD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
64324	NSD1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:821
64324	NSD1	HP:0002650	Scoliosis	HP:0040282	ORPHA:821
64324	NSD1	HP:0002650	Scoliosis	-	OMIM:117550
64324	NSD1	HP:0002650	Scoliosis	HP:0040283	ORPHA:3447
64324	NSD1	HP:0002650	Scoliosis	12/14	OMIM:131300
64324	NSD1	HP:0001319	Neonatal hypotonia	1/1	OMIM:117550
64324	NSD1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
64324	NSD1	HP:0002619	Varicose veins	-	OMIM:153400
64324	NSD1	HP:0032447	Pulmonary bleb	HP:0040284	ORPHA:821
64324	NSD1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
64324	NSD1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
64324	NSD1	HP:0000189	Narrow palate	-	OMIM:117550
64324	NSD1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
64324	NSD1	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:821
64324	NSD1	HP:0000175	Cleft palate	5/39	OMIM:153400
64324	NSD1	HP:0000175	Cleft palate	2/7	OMIM:615777
64324	NSD1	HP:0000144	Decreased fertility	HP:0040284	ORPHA:821
64324	NSD1	HP:0006349	Agenesis of permanent teeth	HP:0040284	ORPHA:821
64324	NSD1	HP:0031284	Flushing	HP:0040282	ORPHA:821
64324	NSD1	HP:0002705	High, narrow palate	-	OMIM:117550
64324	NSD1	HP:0006288	Advanced eruption of teeth	-	OMIM:117550
64324	NSD1	HP:0000126	Hydronephrosis	HP:0040284	ORPHA:821
64324	NSD1	HP:0000104	Renal agenesis	HP:0040284	ORPHA:821
64324	NSD1	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:1627
64324	NSD1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:228415
64324	NSD1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:821
64324	NSD1	HP:0002020	Gastroesophageal reflux	1/1	OMIM:117550
64324	NSD1	HP:0002019	Constipation	HP:0040282	ORPHA:821
64324	NSD1	HP:0004691	2-3 toe syndactyly	HP:0040284	ORPHA:821
64324	NSD1	HP:0002002	Deep philtrum	HP:0040282	ORPHA:3447
64324	NSD1	HP:0002007	Frontal bossing	3/3	OMIM:117550
64324	NSD1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:821
64324	NSD1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:821
64324	NSD1	HP:0003388	Easy fatigability	36/76	OMIM:131300
64324	NSD1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
64324	NSD1	HP:0010493	Long metacarpals	1/3	OMIM:117550
64324	NSD1	HP:0003468	Abnormal vertebral morphology	HP:0040284	ORPHA:821
64324	NSD1	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:821
64324	NSD1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:821
64324	NSD1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:821
64324	NSD1	HP:0002119	Ventriculomegaly	2/4	OMIM:117550
64324	NSD1	HP:0004768	Sparse anterior scalp hair	HP:0040282	ORPHA:821
64324	NSD1	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:3447
64324	NSD1	HP:0009592	Astrocytoma	HP:0040284	ORPHA:821
64324	NSD1	HP:0100702	Arachnoid cyst	1/1	OMIM:117550
64324	NSD1	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:821
64324	NSD1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
64324	NSD1	HP:0002213	Fine hair	HP:0040282	ORPHA:3447
64324	NSD1	HP:0009743	Distichiasis	42/42	OMIM:153400
64324	NSD1	HP:0002280	Enlarged cisterna magna	HP:0040283	ORPHA:821
64324	NSD1	HP:0002280	Enlarged cisterna magna	-	OMIM:117550
64324	NSD1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040284	ORPHA:821
64324	NSD1	HP:0007018	Attention deficit hyperactivity disorder	2/2	OMIM:117550
64324	NSD1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:821
64324	NSD1	HP:0011968	Feeding difficulties	4/4	OMIM:117550
64324	NSD1	HP:0003510	Severe short stature	7/7	OMIM:615777
64324	NSD1	HP:0002389	Cavum septum pellucidum	-	OMIM:117550
64324	NSD1	HP:0002389	Cavum septum pellucidum	HP:0040283	ORPHA:821
64324	NSD1	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:821
64324	NSD1	HP:0001028	Hemangioma	HP:0040284	ORPHA:821
64324	NSD1	HP:0002370	Poor coordination	-	OMIM:117550
64324	NSD1	HP:0002370	Poor coordination	HP:0040283	ORPHA:821
64324	NSD1	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:821
64324	NSD1	HP:0001010	Hypopigmentation of the skin	HP:0040284	ORPHA:821
64324	NSD1	HP:0001004	Lymphedema	-	OMIM:153400
64324	NSD1	HP:0002315	Headache	-	OMIM:131300
64324	NSD1	HP:0004976	Knee dislocation	6/7	OMIM:615777
64324	NSD1	HP:0100658	Cellulitis	2/6	OMIM:153400
64324	NSD1	HP:0009803	Short phalanx of finger	-	OMIM:615777
64324	NSD1	HP:0009797	Cholesteatoma	HP:0040284	ORPHA:821
64324	NSD1	HP:0010741	Pedal edema	HP:0040283	ORPHA:821
64324	NSD1	HP:0009763	Limb pain	63/92	OMIM:131300
64324	NSD1	HP:0003623	Neonatal onset	1/1	OMIM:117550
64324	NSD1	HP:0003621	Juvenile onset	-	OMIM:131300
64324	NSD1	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:821
64324	NSD1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
64324	NSD1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
64324	NSD1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
64324	NSD1	HP:0000639	Nystagmus	HP:0040284	ORPHA:821
64324	NSD1	HP:0000639	Nystagmus	-	OMIM:117550
64324	NSD1	HP:6001056	Out-toeing	-	OMIM:131300
64324	NSD1	HP:0000651	Diplopia	-	OMIM:131300
64324	NSD1	HP:0000613	Photophobia	10/49	OMIM:153400
64324	NSD1	HP:0001956	Truncal obesity	2/7	OMIM:615777
64324	NSD1	HP:0001952	Glucose intolerance	-	OMIM:117550
64324	NSD1	HP:0001903	Anemia	HP:0040283	OMIM:131300
64324	NSD1	HP:0010049	Short metacarpal	-	OMIM:615777
64324	NSD1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
64324	NSD1	HP:0000696	Delayed eruption of permanent teeth	HP:0040284	ORPHA:821
64324	NSD1	HP:0000678	Dental crowding	-	OMIM:615777
64324	NSD1	HP:0000656	Ectropion	2/43	OMIM:153400
64324	NSD1	HP:0000670	Carious teeth	-	OMIM:131300
64324	NSD1	HP:0011304	Broad thumb	2/7	OMIM:615777
64324	NSD1	HP:0011304	Broad thumb	HP:0040282	ORPHA:3447
64324	NSD1	HP:0000668	Hypodontia	HP:0040284	ORPHA:821
64324	NSD1	HP:0000668	Hypodontia	-	OMIM:615777
64324	NSD1	HP:0001998	Neonatal hypoglycemia	2/2	OMIM:117550
64324	NSD1	HP:0001998	Neonatal hypoglycemia	HP:0040284	ORPHA:821
64324	NSD1	HP:0000664	Synophrys	-	OMIM:615777
64324	NSD1	HP:0004324	Increased body weight	1/1	OMIM:117550
64324	NSD1	HP:0004322	Short stature	HP:0040281	ORPHA:228415
64324	NSD1	HP:0005617	Bilateral camptodactyly	HP:0040284	ORPHA:821
64324	NSD1	HP:0005616	Accelerated skeletal maturation	HP:0040282	ORPHA:821
64324	NSD1	HP:0005616	Accelerated skeletal maturation	5/7	OMIM:117550
64324	NSD1	HP:0005616	Accelerated skeletal maturation	HP:0040281	ORPHA:3447
64324	NSD1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:3447
64324	NSD1	HP:0003072	Hypercalcemia	HP:0040284	ORPHA:821
64324	NSD1	HP:0004396	Poor appetite	-	OMIM:131300
64324	NSD1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
64324	NSD1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
64324	NSD1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
64324	NSD1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
64324	NSD1	HP:0003006	Neuroblastoma	HP:0040284	ORPHA:821
64324	NSD1	HP:0003026	Short long bone	7/7	OMIM:615777
64324	NSD1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
64324	NSD1	HP:0400000	Tall chin	HP:0040282	ORPHA:821
64324	NSD1	HP:0000767	Pectus excavatum	HP:0040284	ORPHA:821
64324	NSD1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
64324	NSD1	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:1627
64324	NSD1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
64324	NSD1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
64324	NSD1	HP:0000739	Anxiety	HP:0040283	ORPHA:821
64324	NSD1	HP:0000750	Delayed speech and language development	3/3	OMIM:117550
64324	NSD1	HP:0000750	Delayed speech and language development	-	OMIM:615777
64324	NSD1	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:821
64324	NSD1	HP:0000718	Aggressive behavior	1/1	OMIM:117550
64324	NSD1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:821
64324	NSD1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:821
64324	NSD1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:228415
64324	NSD1	HP:0011463	Childhood onset	1/1	OMIM:117550
64324	NSD1	HP:0011461	Fetal onset	3/3	OMIM:117550
64324	NSD1	HP:0011461	Fetal onset	7/7	OMIM:615777
64324	NSD1	HP:0012771	Increased arm span	HP:0040281	ORPHA:821
64324	NSD1	HP:0000774	Narrow chest	2/7	OMIM:615777
64324	NSD1	HP:0030736	Sacrococcygeal teratoma	HP:0040284	ORPHA:821
64324	NSD1	HP:0000926	Platyspondyly	1/7	OMIM:615777
64324	NSD1	HP:0003180	Flat acetabular roof	-	OMIM:615777
64324	NSD1	HP:0004482	Relative macrocephaly	-	OMIM:615777
64324	NSD1	HP:0004467	Preauricular pit	-	OMIM:187500
64324	NSD1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
64324	NSD1	HP:0012804	Corneal ulceration	-	OMIM:153400
64324	NSD1	HP:0012801	Narrow jaw	1/1	OMIM:117550
64324	NSD1	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:821
64324	NSD1	HP:0000823	Delayed puberty	-	OMIM:131300
64324	NSD1	HP:0000894	Short clavicles	-	OMIM:615777
64324	NSD1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
64324	NSD1	HP:0003273	Hip contracture	HP:0040284	ORPHA:821
64324	NSD1	HP:0045075	Sparse eyebrow	1/1	OMIM:117550
64324	NSD1	HP:0010310	Chylothorax	1/6	OMIM:153400
64324	NSD1	HP:0010300	Abnormally low-pitched voice	HP:0040281	ORPHA:3447
64324	NSD1	HP:0011623	Muscular ventricular septal defect	1/1	OMIM:117550
64324	NSD1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
64324	NSD1	HP:0000953	Hyperpigmentation of the skin	HP:0040284	ORPHA:821
64324	NSD1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:3447
64324	NSD1	HP:0040194	Increased head circumference	HP:0040282	ORPHA:821
64324	NSD1	HP:0011675	Arrhythmia	-	OMIM:153400
64324	NSD1	HP:0000286	Epicanthus	HP:0040282	ORPHA:1627
64324	NSD1	HP:0000286	Epicanthus	1/7	OMIM:615777
64324	NSD1	HP:0000280	Coarse facial features	HP:0040281	ORPHA:821
64324	NSD1	HP:0000280	Coarse facial features	2/7	OMIM:615777
64324	NSD1	HP:0000278	Retrognathia	HP:0040281	ORPHA:3447
64324	NSD1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:1627
64324	NSD1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:821
64324	NSD1	HP:0000256	Macrocephaly	4/5	OMIM:117550
64324	NSD1	HP:0000256	Macrocephaly	HP:0040281	ORPHA:3447
64324	NSD1	HP:0000275	Narrow face	HP:0040282	ORPHA:821
64324	NSD1	HP:0000275	Narrow face	1/1	OMIM:117550
64324	NSD1	HP:0000276	Long face	HP:0040282	ORPHA:821
64324	NSD1	HP:0000276	Long face	2/3	OMIM:117550
64324	NSD1	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:821
64324	NSD1	HP:0000268	Dolichocephaly	1/1	OMIM:117550
64324	NSD1	HP:0006466	Ankle flexion contracture	HP:0040284	ORPHA:821
64324	NSD1	HP:0002827	Hip dislocation	3/7	OMIM:615777
64324	NSD1	HP:0002808	Kyphosis	HP:0040283	ORPHA:821
64324	NSD1	HP:0002808	Kyphosis	2/5	OMIM:153400
64324	NSD1	HP:0000239	Large fontanelles	HP:0040282	ORPHA:1627
64324	NSD1	HP:0000252	Microcephaly	HP:0040281	ORPHA:228415
64324	NSD1	HP:0000252	Microcephaly	-	OMIM:615777
64324	NSD1	HP:0001582	Redundant skin	HP:0040281	ORPHA:3447
64324	NSD1	HP:0001548	Overgrowth	2/2	OMIM:117550
64324	NSD1	HP:0000218	High palate	2/2	OMIM:117550
64324	NSD1	HP:0001558	Decreased fetal movement	1/1	OMIM:117550
64324	NSD1	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:1627
64324	NSD1	HP:0002857	Genu valgum	-	OMIM:117550
64324	NSD1	HP:0002857	Genu valgum	-	OMIM:131300
64324	NSD1	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:821
64324	NSD1	HP:0001533	Slender build	-	OMIM:131300
64324	NSD1	HP:0000204	Cleft upper lip	-	OMIM:153400
64324	NSD1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
64324	NSD1	HP:0001510	Growth delay	HP:0040281	ORPHA:228415
64324	NSD1	HP:0007807	Optic nerve compression	-	OMIM:131300
64324	NSD1	HP:0012368	Flat face	7/7	OMIM:615777
64324	NSD1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:821
64324	NSD1	HP:0000388	Otitis media	-	OMIM:117550
64324	NSD1	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:821
64324	NSD1	HP:0006579	Prolonged neonatal jaundice	1/1	OMIM:117550
64324	NSD1	HP:0001609	Hoarse voice	HP:0040281	ORPHA:3447
64324	NSD1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
64324	NSD1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:821
64324	NSD1	HP:0000365	Hearing impairment	10/67	OMIM:131300
64324	NSD1	HP:0000358	Posteriorly rotated ears	1/1	OMIM:117550
64324	NSD1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:3447
64324	NSD1	HP:0000369	Low-set ears	1/1	OMIM:117550
64324	NSD1	HP:0000343	Long philtrum	HP:0040281	ORPHA:3447
64324	NSD1	HP:0000343	Long philtrum	1/7	OMIM:615777
64324	NSD1	HP:0011001	Increased bone mineral density	-	OMIM:131300
64324	NSD1	HP:0000337	Broad forehead	1/1	OMIM:117550
64324	NSD1	HP:0000337	Broad forehead	-	OMIM:187500
64324	NSD1	HP:0000337	Broad forehead	HP:0040281	ORPHA:3447
64324	NSD1	HP:0000348	High forehead	1/1	OMIM:117550
64324	NSD1	HP:0000347	Micrognathia	HP:0040281	ORPHA:3447
64324	NSD1	HP:0000347	Micrognathia	2/5	OMIM:153400
64324	NSD1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:1627
64324	NSD1	HP:0000316	Hypertelorism	3/5	OMIM:117550
64324	NSD1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:3447
64324	NSD1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:821
64324	NSD1	HP:0001643	Patent ductus arteriosus	-	OMIM:117550
64324	NSD1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
64324	NSD1	HP:0000311	Round face	2/7	OMIM:615777
64324	NSD1	HP:0000311	Round face	HP:0040282	ORPHA:3447
64324	NSD1	HP:0000325	Triangular face	2/3	OMIM:117550
64324	NSD1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:821
64324	NSD1	HP:0001629	Ventricular septal defect	1/1	OMIM:117550
64324	NSD1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
64324	NSD1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:821
64324	NSD1	HP:0001627	Abnormal heart morphology	HP:0040281	ORPHA:1627
64324	NSD1	HP:0002970	Genu varum	-	OMIM:615777
64324	NSD1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
64324	NSD1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
64324	NSD1	HP:0000307	Pointed chin	1/2	OMIM:117550
64324	NSD1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:821
64324	NSD1	HP:0001631	Atrial septal defect	-	OMIM:117550
64324	NSD1	HP:0000303	Mandibular prognathia	4/5	OMIM:117550
64324	NSD1	HP:0000303	Mandibular prognathia	-	OMIM:131300
64324	NSD1	HP:0000405	Conductive hearing impairment	HP:0040284	ORPHA:821
64324	NSD1	HP:0000405	Conductive hearing impairment	-	OMIM:117550
64324	NSD1	HP:0000400	Macrotia	4/4	OMIM:117550
64324	NSD1	HP:0000400	Macrotia	HP:0040281	ORPHA:3447
64324	NSD1	HP:0005280	Depressed nasal bridge	2/3	OMIM:117550
64324	NSD1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
64324	NSD1	HP:0000483	Astigmatism	HP:0040282	ORPHA:821
64324	NSD1	HP:0000486	Strabismus	HP:0040284	ORPHA:821
64324	NSD1	HP:0000486	Strabismus	1/1	OMIM:117550
64324	NSD1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
64324	NSD1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
64324	NSD1	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:821
64324	NSD1	HP:0000494	Downslanted palpebral fissures	4/5	OMIM:117550
64324	NSD1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:3447
64324	NSD1	HP:0001792	Small nail	HP:0040284	ORPHA:821
64324	NSD1	HP:0001792	Small nail	-	OMIM:117550
64324	NSD1	HP:0000463	Anteverted nares	1/1	OMIM:117550
64324	NSD1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
64324	NSD1	HP:0000455	Broad nasal tip	1/1	OMIM:117550
64324	NSD1	HP:0000470	Short neck	HP:0040282	ORPHA:1627
64324	NSD1	HP:0000470	Short neck	1/7	OMIM:615777
64324	NSD1	HP:0000465	Webbed neck	6/43	OMIM:153400
64324	NSD1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
64324	NSD1	HP:0001769	Broad foot	HP:0040282	ORPHA:3447
64324	NSD1	HP:0001763	Pes planus	HP:0040283	ORPHA:821
64324	NSD1	HP:0001763	Pes planus	-	OMIM:117550
64324	NSD1	HP:0001763	Pes planus	1/7	OMIM:615777
64324	NSD1	HP:0001741	Phimosis	HP:0040284	ORPHA:821
64324	NSD1	HP:0001762	Talipes equinovarus	HP:0040284	ORPHA:821
64324	NSD1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:3447
64324	NSD1	HP:0001761	Pes cavus	HP:0040283	ORPHA:3447
64324	NSD1	HP:0006721	Acute lymphoblastic leukemia	HP:0040284	ORPHA:821
64324	NSD1	HP:0000518	Cataract	HP:0040284	ORPHA:821
64324	NSD1	HP:0001840	Metatarsus adductus	-	OMIM:615777
64324	NSD1	HP:0001852	Sandal gap	HP:0040283	ORPHA:3447
64324	NSD1	HP:0000520	Proptosis	2/4	OMIM:131300
64324	NSD1	HP:0000520	Proptosis	-	OMIM:187500
64324	NSD1	HP:0000520	Proptosis	7/7	OMIM:615777
64324	NSD1	HP:0000509	Conjunctivitis	-	OMIM:153400
64324	NSD1	HP:0000508	Ptosis	2/39	OMIM:153400
64324	NSD1	HP:0001833	Long foot	5/5	OMIM:117550
64324	NSD1	HP:0001800	Hypoplastic toenails	HP:0040281	ORPHA:3447
64324	NSD1	HP:0001816	Thin nail	HP:0040281	ORPHA:3447
64324	NSD1	HP:0001814	Deep-set nails	HP:0040281	ORPHA:3447
64324	NSD1	HP:0030357	Small cell lung carcinoma	HP:0040284	ORPHA:821
64324	NSD1	HP:0000592	Blue sclerae	2/7	OMIM:615777
64324	NSD1	HP:0011220	Prominent forehead	HP:0040282	ORPHA:821
64324	NSD1	HP:0011220	Prominent forehead	1/1	OMIM:117550
64324	NSD1	HP:0000568	Microphthalmia	1/6	OMIM:153400
64324	NSD1	HP:0000565	Esotropia	1/1	OMIM:117550
64324	NSD1	HP:0000540	Hypermetropia	HP:0040284	ORPHA:821
64324	NSD1	HP:0000540	Hypermetropia	-	OMIM:117550
64324	NSD1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
64324	NSD1	HP:0012514	Lower limb pain	4/4	OMIM:131300
64324	NSD1	HP:0000545	Myopia	HP:0040284	ORPHA:821
64324	NSD1	HP:0000545	Myopia	HP:0040282	ORPHA:228415
64327	LMBR1	HP:0001177	Preaxial hand polydactyly	HP:0040281	ORPHA:2378
64327	LMBR1	HP:0001177	Preaxial hand polydactyly	3/12	OMIM:190605
64327	LMBR1	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:93321
64327	LMBR1	HP:0001162	Postaxial hand polydactyly	4/12	OMIM:190605
64327	LMBR1	HP:0001161	Hand polydactyly	-	OMIM:135750
64327	LMBR1	HP:0001161	Hand polydactyly	HP:0040281	ORPHA:93405
64327	LMBR1	HP:0001159	Syndactyly	-	OMIM:135750
64327	LMBR1	HP:0001199	Triphalangeal thumb	HP:0040281	ORPHA:2378
64327	LMBR1	HP:0001199	Triphalangeal thumb	11/12	OMIM:190605
64327	LMBR1	HP:0001199	Triphalangeal thumb	-	OMIM:186200
64327	LMBR1	HP:0001199	Triphalangeal thumb	-	OMIM:135750
64327	LMBR1	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:93405
64327	LMBR1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
64327	LMBR1	HP:0001293	Cranial nerve compression	-	OMIM:131300
64327	LMBR1	HP:0001252	Hypotonia	HP:0040283	ORPHA:2378
64327	LMBR1	HP:0001252	Hypotonia	2/7	OMIM:615777
64327	LMBR1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2378
64327	LMBR1	HP:0001249	Intellectual disability	5/7	OMIM:615777
64327	LMBR1	HP:0001263	Global developmental delay	-	OMIM:615777
64327	LMBR1	HP:0006101	Finger syndactyly	5/12	OMIM:190605
64327	LMBR1	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:2378
64327	LMBR1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2378
64327	LMBR1	HP:0002515	Waddling gait	54/102	OMIM:131300
64327	LMBR1	HP:0006088	1-5 finger complete cutaneous syndactyly	-	OMIM:186200
64327	LMBR1	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:93405
64327	LMBR1	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:2378
64327	LMBR1	HP:0001382	Joint hypermobility	-	OMIM:615777
64327	LMBR1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
64327	LMBR1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2378
64327	LMBR1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
64327	LMBR1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
64327	LMBR1	HP:0001324	Muscle weakness	40/96	OMIM:131300
64327	LMBR1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
64327	LMBR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
64327	LMBR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:200500
64327	LMBR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:186200
64327	LMBR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:135750
64327	LMBR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:190605
64327	LMBR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
64327	LMBR1	HP:0002650	Scoliosis	12/14	OMIM:131300
64327	LMBR1	HP:0003982	Aplasia of the ulna	HP:0040281	OMIM:200500
64327	LMBR1	HP:0003982	Aplasia of the ulna	HP:0040281	ORPHA:931
64327	LMBR1	HP:0003974	Absent radius	HP:0040281	OMIM:200500
64327	LMBR1	HP:0003974	Absent radius	HP:0040282	ORPHA:2378
64327	LMBR1	HP:0003974	Absent radius	-	OMIM:135750
64327	LMBR1	HP:0003974	Absent radius	HP:0040281	ORPHA:931
64327	LMBR1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
64327	LMBR1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
64327	LMBR1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
64327	LMBR1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
64327	LMBR1	HP:0000175	Cleft palate	2/7	OMIM:615777
64327	LMBR1	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:2378
64327	LMBR1	HP:0004691	2-3 toe syndactyly	-	OMIM:186200
64327	LMBR1	HP:0002000	Short columella	HP:0040282	ORPHA:2378
64327	LMBR1	HP:0100524	Limb duplication	HP:0040282	ORPHA:2378
64327	LMBR1	HP:0003388	Easy fatigability	36/76	OMIM:131300
64327	LMBR1	HP:0010442	Polydactyly	-	OMIM:186200
64327	LMBR1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
64327	LMBR1	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:931
64327	LMBR1	HP:0005917	Supernumerary metacarpal bones	-	OMIM:186200
64327	LMBR1	HP:0005916	Abnormal metacarpal morphology	HP:0040281	ORPHA:2378
64327	LMBR1	HP:0009484	Deviation of the hand or of fingers of the hand	HP:0040281	ORPHA:93321
64327	LMBR1	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040281	ORPHA:2378
64327	LMBR1	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040282	ORPHA:988
64327	LMBR1	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:93405
64327	LMBR1	HP:0009556	Absent tibia	-	OMIM:135750
64327	LMBR1	HP:0009556	Absent tibia	HP:0040282	ORPHA:2378
64327	LMBR1	HP:0010509	Aplasia of the tarsal bones	HP:0040281	OMIM:200500
64327	LMBR1	HP:0010503	Fibular duplication	-	OMIM:135750
64327	LMBR1	HP:0010503	Fibular duplication	HP:0040282	ORPHA:2378
64327	LMBR1	HP:0003577	Congenital onset	12/12	OMIM:190605
64327	LMBR1	HP:0010708	1-5 finger cutaneous syndactyly	HP:0040281	ORPHA:93405
64327	LMBR1	HP:0010708	1-5 finger cutaneous syndactyly	-	OMIM:186200
64327	LMBR1	HP:0010689	Mirror image polydactyly	HP:0040281	ORPHA:2378
64327	LMBR1	HP:0008368	Tarsal synostosis	HP:0040281	ORPHA:2378
64327	LMBR1	HP:0003510	Severe short stature	7/7	OMIM:615777
64327	LMBR1	HP:0002315	Headache	-	OMIM:131300
64327	LMBR1	HP:0004976	Knee dislocation	6/7	OMIM:615777
64327	LMBR1	HP:0009828	Peromelia	HP:0040281	OMIM:200500
64327	LMBR1	HP:0009820	Lower limb peromelia	HP:0040281	OMIM:200500
64327	LMBR1	HP:0009813	Upper limb phocomelia	HP:0040281	ORPHA:931
64327	LMBR1	HP:0009803	Short phalanx of finger	-	OMIM:615777
64327	LMBR1	HP:0009802	Aplasia of the phalanges of the hand	HP:0040281	OMIM:200500
64327	LMBR1	HP:0010760	Absent toe	HP:0040281	OMIM:200500
64327	LMBR1	HP:0010744	Absent metatarsal bone	HP:0040281	OMIM:200500
64327	LMBR1	HP:0009763	Limb pain	63/92	OMIM:131300
64327	LMBR1	HP:0003621	Juvenile onset	-	OMIM:131300
64327	LMBR1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
64327	LMBR1	HP:0004243	Abnormal scaphoid morphology	HP:0040281	ORPHA:93321
64327	LMBR1	HP:0004252	Abnormal trapezium morphology	HP:0040281	ORPHA:93321
64327	LMBR1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
64327	LMBR1	HP:0004231	Carpal bone aplasia	HP:0040281	OMIM:200500
64327	LMBR1	HP:6001056	Out-toeing	-	OMIM:131300
64327	LMBR1	HP:0000651	Diplopia	-	OMIM:131300
64327	LMBR1	HP:0001956	Truncal obesity	2/7	OMIM:615777
64327	LMBR1	HP:0001903	Anemia	HP:0040283	OMIM:131300
64327	LMBR1	HP:0010049	Short metacarpal	-	OMIM:615777
64327	LMBR1	HP:0010048	Aplasia of metacarpal bones	HP:0040281	OMIM:200500
64327	LMBR1	HP:0010035	Aplasia of the 1st metacarpal	HP:0040281	ORPHA:93321
64327	LMBR1	HP:0000678	Dental crowding	-	OMIM:615777
64327	LMBR1	HP:0000670	Carious teeth	-	OMIM:131300
64327	LMBR1	HP:0011304	Broad thumb	2/12	OMIM:190605
64327	LMBR1	HP:0011304	Broad thumb	2/7	OMIM:615777
64327	LMBR1	HP:0000668	Hypodontia	-	OMIM:615777
64327	LMBR1	HP:0000664	Synophrys	-	OMIM:615777
64327	LMBR1	HP:0004322	Short stature	HP:0040281	ORPHA:988
64327	LMBR1	HP:0005632	Absent forearm	HP:0040281	OMIM:200500
64327	LMBR1	HP:0004396	Poor appetite	-	OMIM:131300
64327	LMBR1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
64327	LMBR1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
64327	LMBR1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
64327	LMBR1	HP:0003026	Short long bone	7/7	OMIM:615777
64327	LMBR1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
64327	LMBR1	HP:0003019	Abnormality of the wrist	HP:0040282	ORPHA:2378
64327	LMBR1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
64327	LMBR1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
64327	LMBR1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
64327	LMBR1	HP:0000750	Delayed speech and language development	-	OMIM:615777
64327	LMBR1	HP:0011461	Fetal onset	7/7	OMIM:615777
64327	LMBR1	HP:0000774	Narrow chest	2/7	OMIM:615777
64327	LMBR1	HP:0005772	Aplasia/Hypoplasia of the tibia	HP:0040281	ORPHA:988
64327	LMBR1	HP:0005736	Short tibia	HP:0040281	OMIM:200500
64327	LMBR1	HP:0005736	Short tibia	HP:0040282	ORPHA:93405
64327	LMBR1	HP:0000926	Platyspondyly	1/7	OMIM:615777
64327	LMBR1	HP:0003180	Flat acetabular roof	-	OMIM:615777
64327	LMBR1	HP:0004482	Relative macrocephaly	-	OMIM:615777
64327	LMBR1	HP:0005792	Short humerus	HP:0040281	OMIM:200500
64327	LMBR1	HP:0005792	Short humerus	HP:0040281	ORPHA:931
64327	LMBR1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
64327	LMBR1	HP:0000823	Delayed puberty	-	OMIM:131300
64327	LMBR1	HP:0000894	Short clavicles	-	OMIM:615777
64327	LMBR1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
64327	LMBR1	HP:0100259	Postaxial polydactyly	-	OMIM:186200
64327	LMBR1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
64327	LMBR1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:931
64327	LMBR1	HP:0000286	Epicanthus	1/7	OMIM:615777
64327	LMBR1	HP:0000280	Coarse facial features	2/7	OMIM:615777
64327	LMBR1	HP:0000271	Abnormality of the face	-	OMIM:135750
64327	LMBR1	HP:0006443	Patellar aplasia	HP:0040281	ORPHA:988
64327	LMBR1	HP:0006443	Patellar aplasia	-	OMIM:135750
64327	LMBR1	HP:0002827	Hip dislocation	3/7	OMIM:615777
64327	LMBR1	HP:0005048	Synostosis of carpal bones	HP:0040282	ORPHA:988
64327	LMBR1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2378
64327	LMBR1	HP:0000252	Microcephaly	-	OMIM:615777
64327	LMBR1	HP:0002857	Genu valgum	-	OMIM:131300
64327	LMBR1	HP:0001533	Slender build	-	OMIM:131300
64327	LMBR1	HP:0001501	6 metacarpals	HP:0040282	ORPHA:93405
64327	LMBR1	HP:0001501	6 metacarpals	-	OMIM:186200
64327	LMBR1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
64327	LMBR1	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040280	ORPHA:93321
64327	LMBR1	HP:0007807	Optic nerve compression	-	OMIM:131300
64327	LMBR1	HP:0012368	Flat face	7/7	OMIM:615777
64327	LMBR1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
64327	LMBR1	HP:0000365	Hearing impairment	10/67	OMIM:131300
64327	LMBR1	HP:0000366	Abnormality of the nose	HP:0040282	ORPHA:2378
64327	LMBR1	HP:0000343	Long philtrum	1/7	OMIM:615777
64327	LMBR1	HP:0011001	Increased bone mineral density	-	OMIM:131300
64327	LMBR1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2378
64327	LMBR1	HP:0000311	Round face	2/7	OMIM:615777
64327	LMBR1	HP:0002991	Abnormal fibula morphology	HP:0040281	ORPHA:988
64327	LMBR1	HP:0002990	Fibular aplasia	HP:0040281	OMIM:200500
64327	LMBR1	HP:0002990	Fibular aplasia	HP:0040281	ORPHA:931
64327	LMBR1	HP:0002970	Genu varum	-	OMIM:615777
64327	LMBR1	HP:0000303	Mandibular prognathia	-	OMIM:131300
64327	LMBR1	HP:0004050	Absent hand	HP:0040281	OMIM:200500
64327	LMBR1	HP:0004050	Absent hand	HP:0040281	ORPHA:931
64327	LMBR1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
64327	LMBR1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:2378
64327	LMBR1	HP:0000470	Short neck	1/7	OMIM:615777
64327	LMBR1	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:93405
64327	LMBR1	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:2378
64327	LMBR1	HP:0001773	Short foot	-	OMIM:135750
64327	LMBR1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
64327	LMBR1	HP:0001769	Broad foot	-	OMIM:135750
64327	LMBR1	HP:0001763	Pes planus	1/7	OMIM:615777
64327	LMBR1	HP:0000448	Prominent nose	HP:0040282	ORPHA:2378
64327	LMBR1	HP:0000430	Underdeveloped nasal alae	-	OMIM:135750
64327	LMBR1	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:2378
64327	LMBR1	HP:0001841	Preaxial foot polydactyly	HP:0040281	ORPHA:2378
64327	LMBR1	HP:0001840	Metatarsus adductus	-	OMIM:615777
64327	LMBR1	HP:0000520	Proptosis	2/4	OMIM:131300
64327	LMBR1	HP:0000520	Proptosis	7/7	OMIM:615777
64327	LMBR1	HP:0001829	Foot polydactyly	HP:0040282	ORPHA:93405
64327	LMBR1	HP:0000592	Blue sclerae	2/7	OMIM:615777
64327	LMBR1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
64327	LMBR1	HP:0001883	Talipes	HP:0040282	ORPHA:2378
64327	LMBR1	HP:0012514	Lower limb pain	4/4	OMIM:131300
64359	NXN	HP:0001171	Split hand	HP:0040283	ORPHA:1507
64359	NXN	HP:0001156	Brachydactyly	3/3	OMIM:618529
64359	NXN	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1507
64359	NXN	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:1507
64359	NXN	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
64359	NXN	HP:0001293	Cranial nerve compression	-	OMIM:131300
64359	NXN	HP:0001252	Hypotonia	2/7	OMIM:615777
64359	NXN	HP:0001249	Intellectual disability	HP:0040283	ORPHA:1507
64359	NXN	HP:0001249	Intellectual disability	5/7	OMIM:615777
64359	NXN	HP:0001263	Global developmental delay	1/3	OMIM:618529
64359	NXN	HP:0001263	Global developmental delay	-	OMIM:615777
64359	NXN	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:1507
64359	NXN	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:1507
64359	NXN	HP:0001212	Prominent fingertip pads	2/3	OMIM:618529
64359	NXN	HP:0002515	Waddling gait	54/102	OMIM:131300
64359	NXN	HP:0001382	Joint hypermobility	-	OMIM:615777
64359	NXN	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:1507
64359	NXN	HP:0002694	Sclerosis of skull base	-	OMIM:131300
64359	NXN	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1507
64359	NXN	HP:0008897	Postnatal growth retardation	-	OMIM:615777
64359	NXN	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:1507
64359	NXN	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
64359	NXN	HP:0001324	Muscle weakness	40/96	OMIM:131300
64359	NXN	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
64359	NXN	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
64359	NXN	HP:0000007	Autosomal recessive inheritance	-	OMIM:618529
64359	NXN	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:1507
64359	NXN	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
64359	NXN	HP:0002650	Scoliosis	HP:0040282	ORPHA:1507
64359	NXN	HP:0002650	Scoliosis	12/14	OMIM:131300
64359	NXN	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
64359	NXN	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
64359	NXN	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
64359	NXN	HP:0000185	Cleft soft palate	1/3	OMIM:618529
64359	NXN	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
64359	NXN	HP:0000164	Abnormality of the dentition	1/2	OMIM:618529
64359	NXN	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:1507
64359	NXN	HP:0000175	Cleft palate	2/7	OMIM:615777
64359	NXN	HP:0000174	Abnormal palate morphology	HP:0040283	ORPHA:1507
64359	NXN	HP:0000154	Wide mouth	HP:0040281	ORPHA:1507
64359	NXN	HP:0007598	Bilateral single transverse palmar creases	HP:0040283	ORPHA:1507
64359	NXN	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1507
64359	NXN	HP:0002714	Downturned corners of mouth	HP:0040281	ORPHA:1507
64359	NXN	HP:0002007	Frontal bossing	2/3	OMIM:618529
64359	NXN	HP:0002007	Frontal bossing	HP:0040282	ORPHA:1507
64359	NXN	HP:0011800	Midface retrusion	2/3	OMIM:618529
64359	NXN	HP:0011800	Midface retrusion	HP:0040281	ORPHA:1507
64359	NXN	HP:0003388	Easy fatigability	36/76	OMIM:131300
64359	NXN	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
64359	NXN	HP:0003422	Vertebral segmentation defect	HP:0040281	ORPHA:1507
64359	NXN	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:1507
64359	NXN	HP:0002263	Exaggerated cupid's bow	HP:0040283	ORPHA:1507
64359	NXN	HP:0003577	Congenital onset	3/3	OMIM:618529
64359	NXN	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:1507
64359	NXN	HP:0100798	Fingernail dysplasia	HP:0040282	ORPHA:1507
64359	NXN	HP:0003510	Severe short stature	7/7	OMIM:615777
64359	NXN	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:1507
64359	NXN	HP:0002315	Headache	-	OMIM:131300
64359	NXN	HP:0004976	Knee dislocation	6/7	OMIM:615777
64359	NXN	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:1507
64359	NXN	HP:0010807	Open bite	HP:0040281	ORPHA:1507
64359	NXN	HP:0009803	Short phalanx of finger	-	OMIM:615777
64359	NXN	HP:0009763	Limb pain	63/92	OMIM:131300
64359	NXN	HP:0003621	Juvenile onset	-	OMIM:131300
64359	NXN	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
64359	NXN	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:1507
64359	NXN	HP:0010059	Broad hallux phalanx	HP:0040282	ORPHA:1507
64359	NXN	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
64359	NXN	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:1507
64359	NXN	HP:6001056	Out-toeing	-	OMIM:131300
64359	NXN	HP:0000651	Diplopia	-	OMIM:131300
64359	NXN	HP:0001956	Truncal obesity	2/7	OMIM:615777
64359	NXN	HP:0001903	Anemia	HP:0040283	OMIM:131300
64359	NXN	HP:0010049	Short metacarpal	-	OMIM:615777
64359	NXN	HP:0010055	Broad hallux	3/3	OMIM:618529
64359	NXN	HP:0000678	Dental crowding	-	OMIM:615777
64359	NXN	HP:0000670	Carious teeth	-	OMIM:131300
64359	NXN	HP:0011304	Broad thumb	3/3	OMIM:618529
64359	NXN	HP:0011304	Broad thumb	2/7	OMIM:615777
64359	NXN	HP:0011304	Broad thumb	HP:0040282	ORPHA:1507
64359	NXN	HP:0000668	Hypodontia	-	OMIM:615777
64359	NXN	HP:0000668	Hypodontia	HP:0040283	ORPHA:1507
64359	NXN	HP:0000664	Synophrys	-	OMIM:615777
64359	NXN	HP:0004322	Short stature	1/3	OMIM:618529
64359	NXN	HP:0004397	Ectopic anus	HP:0040283	ORPHA:1507
64359	NXN	HP:0004396	Poor appetite	-	OMIM:131300
64359	NXN	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
64359	NXN	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
64359	NXN	HP:0003042	Elbow dislocation	HP:0040282	ORPHA:1507
64359	NXN	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
64359	NXN	HP:0003026	Short long bone	7/7	OMIM:615777
64359	NXN	HP:0003027	Mesomelia	3/3	OMIM:618529
64359	NXN	HP:0003027	Mesomelia	HP:0040281	ORPHA:1507
64359	NXN	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
64359	NXN	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:1507
64359	NXN	HP:0000767	Pectus excavatum	2/7	OMIM:615777
64359	NXN	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:1507
64359	NXN	HP:0000768	Pectus carinatum	1/7	OMIM:615777
64359	NXN	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
64359	NXN	HP:0000750	Delayed speech and language development	1/3	OMIM:618529
64359	NXN	HP:0000750	Delayed speech and language development	-	OMIM:615777
64359	NXN	HP:0011461	Fetal onset	7/7	OMIM:615777
64359	NXN	HP:0000774	Narrow chest	2/7	OMIM:615777
64359	NXN	HP:0003196	Short nose	2/3	OMIM:618529
64359	NXN	HP:0003196	Short nose	HP:0040281	ORPHA:1507
64359	NXN	HP:0000926	Platyspondyly	1/7	OMIM:615777
64359	NXN	HP:0003180	Flat acetabular roof	-	OMIM:615777
64359	NXN	HP:0000902	Rib fusion	HP:0040282	ORPHA:1507
64359	NXN	HP:0004482	Relative macrocephaly	2/3	OMIM:618529
64359	NXN	HP:0004482	Relative macrocephaly	-	OMIM:615777
64359	NXN	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
64359	NXN	HP:0012815	Hypoplastic female external genitalia	HP:0040282	ORPHA:1507
64359	NXN	HP:0000823	Delayed puberty	-	OMIM:131300
64359	NXN	HP:0010292	Absent uvula	2/3	OMIM:618529
64359	NXN	HP:0010297	Bifid tongue	HP:0040282	ORPHA:1507
64359	NXN	HP:0010296	Ankyloglossia	HP:0040282	ORPHA:1507
64359	NXN	HP:0000894	Short clavicles	-	OMIM:615777
64359	NXN	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
64359	NXN	HP:0003272	Abnormal hip bone morphology	HP:0040283	ORPHA:1507
64359	NXN	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
64359	NXN	HP:0000960	Sacral dimple	HP:0040283	ORPHA:1507
64359	NXN	HP:0000286	Epicanthus	HP:0040282	ORPHA:1507
64359	NXN	HP:0000286	Epicanthus	1/7	OMIM:615777
64359	NXN	HP:0000280	Coarse facial features	2/7	OMIM:615777
64359	NXN	HP:0001596	Alopecia	HP:0040283	ORPHA:1507
64359	NXN	HP:0000256	Macrocephaly	HP:0040282	ORPHA:1507
64359	NXN	HP:0002827	Hip dislocation	3/7	OMIM:615777
64359	NXN	HP:0030084	Clinodactyly	3/3	OMIM:618529
64359	NXN	HP:0002808	Kyphosis	HP:0040282	ORPHA:1507
64359	NXN	HP:0005048	Synostosis of carpal bones	HP:0040283	ORPHA:1507
64359	NXN	HP:0000252	Microcephaly	-	OMIM:615777
64359	NXN	HP:0000212	Gingival overgrowth	3/3	OMIM:618529
64359	NXN	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:1507
64359	NXN	HP:0002857	Genu valgum	-	OMIM:131300
64359	NXN	HP:0001522	Death in infancy	HP:0040283	ORPHA:1507
64359	NXN	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:1507
64359	NXN	HP:0001539	Omphalocele	1/3	OMIM:618529
64359	NXN	HP:0000207	Triangular mouth	3/3	OMIM:618529
64359	NXN	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:1507
64359	NXN	HP:0001533	Slender build	-	OMIM:131300
64359	NXN	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
64359	NXN	HP:0007807	Optic nerve compression	-	OMIM:131300
64359	NXN	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:1507
64359	NXN	HP:0012385	Camptodactyly	2/3	OMIM:618529
64359	NXN	HP:0012368	Flat face	7/7	OMIM:615777
64359	NXN	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:1507
64359	NXN	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
64359	NXN	HP:0002933	Ventral hernia	1/3	OMIM:618529
64359	NXN	HP:0000365	Hearing impairment	HP:0040282	ORPHA:1507
64359	NXN	HP:0000365	Hearing impairment	10/67	OMIM:131300
64359	NXN	HP:0000358	Posteriorly rotated ears	1/3	OMIM:618529
64359	NXN	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1507
64359	NXN	HP:0000369	Low-set ears	1/3	OMIM:618529
64359	NXN	HP:0000343	Long philtrum	3/3	OMIM:618529
64359	NXN	HP:0000343	Long philtrum	HP:0040282	ORPHA:1507
64359	NXN	HP:0000343	Long philtrum	1/7	OMIM:615777
64359	NXN	HP:0011001	Increased bone mineral density	-	OMIM:131300
64359	NXN	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:1507
64359	NXN	HP:0000348	High forehead	3/3	OMIM:618529
64359	NXN	HP:0000347	Micrognathia	3/3	OMIM:618529
64359	NXN	HP:0000347	Micrognathia	HP:0040282	ORPHA:1507
64359	NXN	HP:0001647	Bicuspid aortic valve	1/3	OMIM:618529
64359	NXN	HP:0000316	Hypertelorism	3/3	OMIM:618529
64359	NXN	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1507
64359	NXN	HP:0000311	Round face	2/7	OMIM:615777
64359	NXN	HP:0000322	Short philtrum	HP:0040283	ORPHA:1507
64359	NXN	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:1507
64359	NXN	HP:0001641	Abnormal pulmonary valve morphology	HP:0040283	ORPHA:1507
64359	NXN	HP:0002970	Genu varum	-	OMIM:615777
64359	NXN	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1507
64359	NXN	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1507
64359	NXN	HP:0000303	Mandibular prognathia	-	OMIM:131300
64359	NXN	HP:0001702	Abnormal tricuspid valve morphology	HP:0040283	ORPHA:1507
64359	NXN	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1507
64359	NXN	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
64359	NXN	HP:0000486	Strabismus	HP:0040283	ORPHA:1507
64359	NXN	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:1507
64359	NXN	HP:0000463	Anteverted nares	3/3	OMIM:618529
64359	NXN	HP:0000463	Anteverted nares	HP:0040281	ORPHA:1507
64359	NXN	HP:0000455	Broad nasal tip	-	OMIM:618529
64359	NXN	HP:0000470	Short neck	HP:0040283	ORPHA:1507
64359	NXN	HP:0000470	Short neck	1/7	OMIM:615777
64359	NXN	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:1507
64359	NXN	HP:0001769	Broad foot	HP:0040283	OMIM:615777
64359	NXN	HP:0001763	Pes planus	1/7	OMIM:615777
64359	NXN	HP:0000431	Wide nasal bridge	2/3	OMIM:618529
64359	NXN	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1507
64359	NXN	HP:0001840	Metatarsus adductus	-	OMIM:615777
64359	NXN	HP:0000527	Long eyelashes	1/3	OMIM:618529
64359	NXN	HP:0000527	Long eyelashes	HP:0040282	ORPHA:1507
64359	NXN	HP:0001852	Sandal gap	1/3	OMIM:618529
64359	NXN	HP:0001852	Sandal gap	HP:0040283	ORPHA:1507
64359	NXN	HP:0000520	Proptosis	2/4	OMIM:131300
64359	NXN	HP:0000520	Proptosis	3/3	OMIM:618529
64359	NXN	HP:0000520	Proptosis	HP:0040282	ORPHA:1507
64359	NXN	HP:0000520	Proptosis	7/7	OMIM:615777
64359	NXN	HP:0000508	Ptosis	HP:0040283	ORPHA:1507
64359	NXN	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:1507
64359	NXN	HP:0000592	Blue sclerae	2/7	OMIM:615777
64359	NXN	HP:0000592	Blue sclerae	HP:0040283	ORPHA:1507
64359	NXN	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
64359	NXN	HP:0012514	Lower limb pain	4/4	OMIM:131300
64374	SIL1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:559
64374	SIL1	HP:0001167	Abnormal finger morphology	HP:0040282	ORPHA:559
64374	SIL1	HP:0001276	Hypertonia	HP:0040282	ORPHA:559
64374	SIL1	HP:0001272	Cerebellar atrophy	7/7	OMIM:248800
64374	SIL1	HP:0001284	Areflexia	HP:0040283	ORPHA:559
64374	SIL1	HP:0001252	Hypotonia	29/29	OMIM:248800
64374	SIL1	HP:0001252	Hypotonia	HP:0040281	ORPHA:559
64374	SIL1	HP:0001251	Ataxia	HP:0040281	ORPHA:559
64374	SIL1	HP:0001251	Ataxia	29/29	OMIM:248800
64374	SIL1	HP:0001249	Intellectual disability	-	OMIM:248800
64374	SIL1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:559
64374	SIL1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:559
64374	SIL1	HP:0001260	Dysarthria	HP:0040281	ORPHA:559
64374	SIL1	HP:0001260	Dysarthria	-	OMIM:248800
64374	SIL1	HP:0001263	Global developmental delay	29/29	OMIM:248800
64374	SIL1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:559
64374	SIL1	HP:0001257	Spasticity	HP:0040282	ORPHA:559
64374	SIL1	HP:0001257	Spasticity	4/9	OMIM:248800
64374	SIL1	HP:0003805	Rimmed vacuoles	-	OMIM:248800
64374	SIL1	HP:0001371	Flexion contracture	-	OMIM:248800
64374	SIL1	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:559
64374	SIL1	HP:0001328	Specific learning disability	HP:0040281	ORPHA:559
64374	SIL1	HP:0002673	Coxa valga	-	OMIM:248800
64374	SIL1	HP:0002673	Coxa valga	HP:0040282	ORPHA:559
64374	SIL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:248800
64374	SIL1	HP:0002650	Scoliosis	HP:0040282	ORPHA:559
64374	SIL1	HP:0002650	Scoliosis	-	OMIM:248800
64374	SIL1	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:559
64374	SIL1	HP:0000135	Hypogonadism	HP:0040281	ORPHA:559
64374	SIL1	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	HP:0040281	ORPHA:559
64374	SIL1	HP:0003323	Progressive muscle weakness	-	OMIM:248800
64374	SIL1	HP:0002066	Gait ataxia	-	OMIM:248800
64374	SIL1	HP:0002063	Rigidity	HP:0040282	ORPHA:559
64374	SIL1	HP:0002070	Limb ataxia	-	OMIM:248800
64374	SIL1	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:559
64374	SIL1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:559
64374	SIL1	HP:0010547	Muscle flaccidity	HP:0040282	ORPHA:559
64374	SIL1	HP:0010508	Metatarsus valgus	HP:0040282	ORPHA:559
64374	SIL1	HP:0008278	Cerebellar cortical atrophy	19/19	OMIM:248800
64374	SIL1	HP:0003593	Infantile onset	12/15	OMIM:248800
64374	SIL1	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:559
64374	SIL1	HP:0003560	Muscular dystrophy	HP:0040282	ORPHA:559
64374	SIL1	HP:0003510	Severe short stature	HP:0040281	ORPHA:559
64374	SIL1	HP:0003687	Centrally nucleated skeletal muscle fibers	-	OMIM:248800
64374	SIL1	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040281	ORPHA:559
64374	SIL1	HP:0100660	Dyskinesia	HP:0040282	ORPHA:559
64374	SIL1	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:559
64374	SIL1	HP:0010743	Short metatarsal	-	OMIM:248800
64374	SIL1	HP:0004279	Short palm	HP:0040282	ORPHA:559
64374	SIL1	HP:0000639	Nystagmus	HP:0040282	ORPHA:559
64374	SIL1	HP:0000639	Nystagmus	20/29	OMIM:248800
64374	SIL1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:559
64374	SIL1	HP:0010049	Short metacarpal	-	OMIM:248800
64374	SIL1	HP:0004322	Short stature	18/30	OMIM:248800
64374	SIL1	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:559
64374	SIL1	HP:0011463	Childhood onset	3/5	OMIM:248800
64374	SIL1	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040282	ORPHA:559
64374	SIL1	HP:0003198	Myopathy	20/20	OMIM:248800
64374	SIL1	HP:0003198	Myopathy	HP:0040281	ORPHA:559
64374	SIL1	HP:0000815	Hypergonadotropic hypogonadism	19/21	OMIM:248800
64374	SIL1	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040281	ORPHA:559
64374	SIL1	HP:0003236	Elevated circulating creatine kinase concentration	23/28	OMIM:248800
64374	SIL1	HP:0003241	External genital hypoplasia	HP:0040281	ORPHA:559
64374	SIL1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:559
64374	SIL1	HP:0003202	Skeletal muscle atrophy	-	OMIM:248800
64374	SIL1	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040281	ORPHA:559
64374	SIL1	HP:0002827	Hip dislocation	HP:0040282	ORPHA:559
64374	SIL1	HP:0002808	Kyphosis	-	OMIM:248800
64374	SIL1	HP:0000252	Microcephaly	2/28	OMIM:248800
64374	SIL1	HP:0000252	Microcephaly	HP:0040283	ORPHA:559
64374	SIL1	HP:0001508	Failure to thrive	-	OMIM:248800
64374	SIL1	HP:0001618	Dysphonia	HP:0040281	ORPHA:559
64374	SIL1	HP:0002967	Cubitus valgus	-	OMIM:248800
64374	SIL1	HP:0000486	Strabismus	HP:0040281	ORPHA:559
64374	SIL1	HP:0000486	Strabismus	24/27	OMIM:248800
64374	SIL1	HP:0001763	Pes planus	-	OMIM:248800
64374	SIL1	HP:0012400	Abnormal circulating aldolase concentration	HP:0040281	ORPHA:559
64374	SIL1	HP:0000518	Cataract	HP:0040281	ORPHA:559
64374	SIL1	HP:0000519	Developmental cataract	30/30	OMIM:248800
64376	IKZF5	HP:0033536	Reduced platelet alpha granules	7/7	OMIM:619130
64376	IKZF5	HP:0033535	Reduced platelet dense granules	2/2	OMIM:619130
64376	IKZF5	HP:0000006	Autosomal dominant inheritance	-	OMIM:619130
64376	IKZF5	HP:0011891	Post-partum hemorrhage	1/5	OMIM:619130
64376	IKZF5	HP:0011870	Impaired arachidonic acid-induced platelet aggregation	2/5	OMIM:619130
64376	IKZF5	HP:0011871	Impaired ristocetin-induced platelet aggregation	1/5	OMIM:619130
64376	IKZF5	HP:0004866	Impaired ADP-induced platelet aggregation	2/5	OMIM:619130
64376	IKZF5	HP:0008320	Impaired collagen-induced platelet aggregation	2/5	OMIM:619130
64376	IKZF5	HP:0001873	Thrombocytopenia	23/23	OMIM:619130
64388	GREM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617275
64388	GREM2	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:99798
64388	GREM2	HP:0006344	Abnormal primary molar morphology	HP:0040283	ORPHA:99798
64388	GREM2	HP:0006336	Short dental root	HP:0040282	ORPHA:99798
64388	GREM2	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:99798
64388	GREM2	HP:0006289	Agenesis of central incisor	HP:0040282	ORPHA:99798
64388	GREM2	HP:0000696	Delayed eruption of permanent teeth	HP:0040282	ORPHA:99798
64388	GREM2	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:99798
64388	GREM2	HP:0000679	Taurodontia	1/7	OMIM:617275
64388	GREM2	HP:0000679	Taurodontia	HP:0040283	ORPHA:99798
64388	GREM2	HP:0000677	Oligodontia	HP:0040280	ORPHA:99798
64388	GREM2	HP:0000691	Microdontia	1/7	OMIM:617275
64388	GREM2	HP:0000691	Microdontia	HP:0040282	ORPHA:99798
64388	GREM2	HP:0000690	Agenesis of maxillary lateral incisor	HP:0040282	ORPHA:99798
64388	GREM2	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:99798
64388	GREM2	HP:0000685	Hypoplasia of teeth	HP:0040283	ORPHA:99798
64388	GREM2	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:99798
64388	GREM2	HP:0001592	Selective tooth agenesis	6/7	OMIM:617275
64388	GREM2	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:99798
64388	GREM2	HP:0011078	Abnormality of canine	HP:0040283	ORPHA:99798
64388	GREM2	HP:0011053	Agenesis of mandibular premolar	HP:0040283	ORPHA:99798
64388	GREM2	HP:0011051	Agenesis of premolar	HP:0040282	ORPHA:99798
64388	GREM2	HP:0011056	Agenesis of first permanent molar tooth	HP:0040282	ORPHA:99798
64388	GREM2	HP:0005216	Impaired mastication	HP:0040281	ORPHA:99798
64388	GREM2	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:99798
64388	GREM2	HP:0012472	Eclabion	HP:0040283	ORPHA:99798
64388	GREM2	HP:0011219	Short face	HP:0040283	ORPHA:99798
64411	ARAP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
64411	ARAP3	HP:0002619	Varicose veins	-	OMIM:153400
64411	ARAP3	HP:0000175	Cleft palate	5/39	OMIM:153400
64411	ARAP3	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
64411	ARAP3	HP:0009743	Distichiasis	42/42	OMIM:153400
64411	ARAP3	HP:0001004	Lymphedema	-	OMIM:153400
64411	ARAP3	HP:0100658	Cellulitis	2/6	OMIM:153400
64411	ARAP3	HP:0000613	Photophobia	10/49	OMIM:153400
64411	ARAP3	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
64411	ARAP3	HP:0000656	Ectropion	2/43	OMIM:153400
64411	ARAP3	HP:0003011	Abnormality of the musculature	-	OMIM:153400
64411	ARAP3	HP:0012804	Corneal ulceration	-	OMIM:153400
64411	ARAP3	HP:0010310	Chylothorax	1/6	OMIM:153400
64411	ARAP3	HP:0011675	Arrhythmia	-	OMIM:153400
64411	ARAP3	HP:0002808	Kyphosis	2/5	OMIM:153400
64411	ARAP3	HP:0000204	Cleft upper lip	-	OMIM:153400
64411	ARAP3	HP:0000347	Micrognathia	2/5	OMIM:153400
64411	ARAP3	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
64411	ARAP3	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
64411	ARAP3	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
64411	ARAP3	HP:0000476	Cystic hygroma	2/43	OMIM:153400
64411	ARAP3	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
64411	ARAP3	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
64411	ARAP3	HP:0000465	Webbed neck	6/43	OMIM:153400
64411	ARAP3	HP:0000509	Conjunctivitis	-	OMIM:153400
64411	ARAP3	HP:0000508	Ptosis	2/39	OMIM:153400
64411	ARAP3	HP:0000568	Microphthalmia	1/6	OMIM:153400
64412	GZF1	HP:0001156	Brachydactyly	-	OMIM:143095
64412	GZF1	HP:0001123	Visual field defect	-	OMIM:143200
64412	GZF1	HP:0009882	Short distal phalanx of finger	-	OMIM:143095
64412	GZF1	HP:0008551	Microtia	-	OMIM:143095
64412	GZF1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
64412	GZF1	HP:0001293	Cranial nerve compression	-	OMIM:131300
64412	GZF1	HP:0001270	Motor delay	-	OMIM:156550
64412	GZF1	HP:0001288	Gait disturbance	-	OMIM:156550
64412	GZF1	HP:0001252	Hypotonia	2/7	OMIM:615777
64412	GZF1	HP:0001249	Intellectual disability	0/5	OMIM:617662
64412	GZF1	HP:0001249	Intellectual disability	0/9	OMIM:143095
64412	GZF1	HP:0001249	Intellectual disability	3/20	OMIM:150250
64412	GZF1	HP:0001249	Intellectual disability	5/7	OMIM:615777
64412	GZF1	HP:0001263	Global developmental delay	-	OMIM:615777
64412	GZF1	HP:0100864	Short femoral neck	-	OMIM:143095
64412	GZF1	HP:0006067	Multiple carpal ossification centers	-	OMIM:143095
64412	GZF1	HP:0006067	Multiple carpal ossification centers	-	OMIM:150250
64412	GZF1	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:143095
64412	GZF1	HP:0003883	Tapered humerus	3/16	OMIM:150250
64412	GZF1	HP:0001222	Spatulate thumbs	17/18	OMIM:150250
64412	GZF1	HP:0002515	Waddling gait	54/102	OMIM:131300
64412	GZF1	HP:0002515	Waddling gait	-	OMIM:143095
64412	GZF1	HP:0003834	Shoulder dislocation	-	OMIM:143095
64412	GZF1	HP:0006095	Wide tufts of distal phalanges	-	OMIM:154780
64412	GZF1	HP:0001376	Limitation of joint mobility	-	OMIM:156550
64412	GZF1	HP:0001371	Flexion contracture	-	OMIM:143095
64412	GZF1	HP:0001373	Joint dislocation	-	OMIM:143095
64412	GZF1	HP:0001382	Joint hypermobility	5/5	OMIM:617662
64412	GZF1	HP:0001382	Joint hypermobility	-	OMIM:150250
64412	GZF1	HP:0001382	Joint hypermobility	-	OMIM:615777
64412	GZF1	HP:0012019	Lens luxation	-	OMIM:154780
64412	GZF1	HP:0000023	Inguinal hernia	1/5	OMIM:617662
64412	GZF1	HP:0000023	Inguinal hernia	-	OMIM:156550
64412	GZF1	HP:0002684	Thickened calvaria	-	OMIM:154780
64412	GZF1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
64412	GZF1	HP:0000028	Cryptorchidism	-	OMIM:150250
64412	GZF1	HP:0002688	Absent frontal sinuses	-	OMIM:154780
64412	GZF1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
64412	GZF1	HP:0008839	Hypoplastic pelvis	-	OMIM:156550
64412	GZF1	HP:0012095	Multiple joint dislocation	2/5	OMIM:617662
64412	GZF1	HP:0006172	Flattened, squared-off epiphyses of tubular bones	-	OMIM:156550
64412	GZF1	HP:0003994	Dislocated wrist	-	OMIM:150250
64412	GZF1	HP:0002663	Delayed epiphyseal ossification	-	OMIM:156550
64412	GZF1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
64412	GZF1	HP:0002656	Epiphyseal dysplasia	-	OMIM:184840
64412	GZF1	HP:0001324	Muscle weakness	40/96	OMIM:131300
64412	GZF1	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:143095
64412	GZF1	HP:0002673	Coxa valga	-	OMIM:154780
64412	GZF1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
64412	GZF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617662
64412	GZF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:143095
64412	GZF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
64412	GZF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:154780
64412	GZF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:150250
64412	GZF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:156550
64412	GZF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:143200
64412	GZF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
64412	GZF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:184840
64412	GZF1	HP:0002650	Scoliosis	9/9	OMIM:143095
64412	GZF1	HP:0002650	Scoliosis	12/14	OMIM:131300
64412	GZF1	HP:0002650	Scoliosis	12/20	OMIM:150250
64412	GZF1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
64412	GZF1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
64412	GZF1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
64412	GZF1	HP:0008905	Rhizomelia	-	OMIM:143095
64412	GZF1	HP:0008905	Rhizomelia	1/1	OMIM:156550
64412	GZF1	HP:0000179	Thick lower lip vermilion	-	OMIM:154780
64412	GZF1	HP:0000193	Bifid uvula	4/9	OMIM:154780
64412	GZF1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
64412	GZF1	HP:0000175	Cleft palate	-	OMIM:184840
64412	GZF1	HP:0000175	Cleft palate	1/1	OMIM:156550
64412	GZF1	HP:0000175	Cleft palate	4/9	OMIM:154780
64412	GZF1	HP:0000175	Cleft palate	3/20	OMIM:150250
64412	GZF1	HP:0000175	Cleft palate	2/7	OMIM:615777
64412	GZF1	HP:0007643	Peripheral tractional retinal detachment	-	OMIM:143200
64412	GZF1	HP:0007598	Bilateral single transverse palmar creases	-	OMIM:143095
64412	GZF1	HP:0002780	Bronchomalacia	-	OMIM:150250
64412	GZF1	HP:0002779	Tracheomalacia	-	OMIM:156550
64412	GZF1	HP:0002779	Tracheomalacia	-	OMIM:150250
64412	GZF1	HP:0002777	Tracheal stenosis	-	OMIM:150250
64412	GZF1	HP:0002751	Kyphoscoliosis	1/5	OMIM:617662
64412	GZF1	HP:0002751	Kyphoscoliosis	-	OMIM:143095
64412	GZF1	HP:0002750	Delayed skeletal maturation	-	OMIM:143095
64412	GZF1	HP:0002007	Frontal bossing	-	OMIM:150250
64412	GZF1	HP:0003304	Spondylolysis	-	OMIM:150250
64412	GZF1	HP:0004619	Lumbar kyphoscoliosis	-	OMIM:156550
64412	GZF1	HP:0003301	Irregular vertebral endplates	-	OMIM:143095
64412	GZF1	HP:0011800	Midface retrusion	-	OMIM:184840
64412	GZF1	HP:0011800	Midface retrusion	-	OMIM:156550
64412	GZF1	HP:0011800	Midface retrusion	9/9	OMIM:154780
64412	GZF1	HP:0011800	Midface retrusion	19/20	OMIM:150250
64412	GZF1	HP:0002098	Respiratory distress	-	OMIM:156550
64412	GZF1	HP:0002092	Pulmonary arterial hypertension	-	OMIM:143095
64412	GZF1	HP:0003388	Easy fatigability	36/76	OMIM:131300
64412	GZF1	HP:0010446	Tricuspid stenosis	-	OMIM:143095
64412	GZF1	HP:0008127	Bipartite calcaneus	-	OMIM:150250
64412	GZF1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
64412	GZF1	HP:0003417	Coronal cleft vertebrae	-	OMIM:143095
64412	GZF1	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:156550
64412	GZF1	HP:0002194	Delayed gross motor development	-	OMIM:143095
64412	GZF1	HP:0002176	Spinal cord compression	-	OMIM:150250
64412	GZF1	HP:0100490	Camptodactyly of finger	-	OMIM:143095
64412	GZF1	HP:0010585	Small epiphyses	9/9	OMIM:143095
64412	GZF1	HP:0008271	Abnormal cartilage collagen	-	OMIM:156550
64412	GZF1	HP:0010580	Enlarged epiphyses	-	OMIM:184840
64412	GZF1	HP:0003593	Infantile onset	9/9	OMIM:143095
64412	GZF1	HP:0003577	Congenital onset	6/6	OMIM:143095
64412	GZF1	HP:0003577	Congenital onset	1/1	OMIM:156550
64412	GZF1	HP:0003510	Severe short stature	7/7	OMIM:615777
64412	GZF1	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:156550
64412	GZF1	HP:0002315	Headache	-	OMIM:131300
64412	GZF1	HP:0004976	Knee dislocation	16/20	OMIM:150250
64412	GZF1	HP:0004976	Knee dislocation	6/6	OMIM:143095
64412	GZF1	HP:0004976	Knee dislocation	6/7	OMIM:615777
64412	GZF1	HP:0200003	Splayed epiphyses	-	OMIM:156550
64412	GZF1	HP:0009803	Short phalanx of finger	-	OMIM:143095
64412	GZF1	HP:0009803	Short phalanx of finger	-	OMIM:615777
64412	GZF1	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:143095
64412	GZF1	HP:0010743	Short metatarsal	-	OMIM:150250
64412	GZF1	HP:0009763	Limb pain	63/92	OMIM:131300
64412	GZF1	HP:0008434	Hypoplastic cervical vertebrae	-	OMIM:150250
64412	GZF1	HP:0003621	Juvenile onset	-	OMIM:131300
64412	GZF1	HP:0004942	Aortic aneurysm	-	OMIM:150250
64412	GZF1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
64412	GZF1	HP:0004209	Clinodactyly of the 5th finger	2/9	OMIM:154780
64412	GZF1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
64412	GZF1	HP:0004232	Accessory carpal bones	-	OMIM:150250
64412	GZF1	HP:6001056	Out-toeing	-	OMIM:131300
64412	GZF1	HP:0000651	Diplopia	-	OMIM:131300
64412	GZF1	HP:0000648	Optic atrophy	-	OMIM:143200
64412	GZF1	HP:0000612	Iris coloboma	2/5	OMIM:617662
64412	GZF1	HP:0001956	Truncal obesity	2/7	OMIM:615777
64412	GZF1	HP:0001903	Anemia	HP:0040283	OMIM:131300
64412	GZF1	HP:0010049	Short metacarpal	-	OMIM:143095
64412	GZF1	HP:0010049	Short metacarpal	-	OMIM:615777
64412	GZF1	HP:0010049	Short metacarpal	-	OMIM:150250
64412	GZF1	HP:0030490	Exudative vitreoretinopathy	HP:0040283	OMIM:143200
64412	GZF1	HP:0000684	Delayed eruption of teeth	-	OMIM:143095
64412	GZF1	HP:0000678	Dental crowding	-	OMIM:615777
64412	GZF1	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:154780
64412	GZF1	HP:0000691	Microdontia	-	OMIM:143095
64412	GZF1	HP:0000687	Widely spaced teeth	-	OMIM:143095
64412	GZF1	HP:0000670	Carious teeth	-	OMIM:131300
64412	GZF1	HP:0011304	Broad thumb	2/7	OMIM:615777
64412	GZF1	HP:0000668	Hypodontia	-	OMIM:615777
64412	GZF1	HP:0000668	Hypodontia	-	OMIM:150250
64412	GZF1	HP:0000664	Synophrys	-	OMIM:615777
64412	GZF1	HP:0004322	Short stature	5/5	OMIM:617662
64412	GZF1	HP:0004322	Short stature	-	OMIM:154780
64412	GZF1	HP:0004322	Short stature	15/15	OMIM:143095
64412	GZF1	HP:0004322	Short stature	14/20	OMIM:150250
64412	GZF1	HP:0030663	Optically empty vitreous	-	OMIM:143200
64412	GZF1	HP:0003071	Flattened epiphysis	-	OMIM:143095
64412	GZF1	HP:0003088	Premature osteoarthritis	-	OMIM:184840
64412	GZF1	HP:0003083	Dislocated radial head	6/6	OMIM:143095
64412	GZF1	HP:0004396	Poor appetite	-	OMIM:131300
64412	GZF1	HP:0003037	Enlarged joints	-	OMIM:156550
64412	GZF1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
64412	GZF1	HP:0003031	Ulnar bowing	-	OMIM:154780
64412	GZF1	HP:0003031	Ulnar bowing	-	OMIM:143095
64412	GZF1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
64412	GZF1	HP:0003042	Elbow dislocation	-	OMIM:143095
64412	GZF1	HP:0003042	Elbow dislocation	13/20	OMIM:150250
64412	GZF1	HP:0003040	Arthropathy	-	OMIM:143095
64412	GZF1	HP:0003015	Flared metaphysis	-	OMIM:156550
64412	GZF1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
64412	GZF1	HP:0003026	Short long bone	7/7	OMIM:615777
64412	GZF1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
64412	GZF1	HP:0003022	Hypoplasia of the ulna	-	OMIM:143095
64412	GZF1	HP:0000767	Pectus excavatum	1/1	OMIM:156550
64412	GZF1	HP:0000767	Pectus excavatum	-	OMIM:150250
64412	GZF1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
64412	GZF1	HP:0000768	Pectus carinatum	2/5	OMIM:617662
64412	GZF1	HP:0000768	Pectus carinatum	-	OMIM:150250
64412	GZF1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
64412	GZF1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
64412	GZF1	HP:0000750	Delayed speech and language development	-	OMIM:615777
64412	GZF1	HP:0009179	Deviation of the 5th finger	-	OMIM:143095
64412	GZF1	HP:0011461	Fetal onset	7/7	OMIM:615777
64412	GZF1	HP:0000774	Narrow chest	2/7	OMIM:615777
64412	GZF1	HP:0003196	Short nose	9/9	OMIM:154780
64412	GZF1	HP:0000914	Shield chest	-	OMIM:143095
64412	GZF1	HP:0000926	Platyspondyly	1/9	OMIM:154780
64412	GZF1	HP:0000926	Platyspondyly	-	OMIM:184840
64412	GZF1	HP:0000926	Platyspondyly	1/7	OMIM:615777
64412	GZF1	HP:0000926	Platyspondyly	1/1	OMIM:156550
64412	GZF1	HP:0003184	Decreased hip abduction	-	OMIM:143095
64412	GZF1	HP:0003180	Flat acetabular roof	-	OMIM:615777
64412	GZF1	HP:0004482	Relative macrocephaly	-	OMIM:615777
64412	GZF1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
64412	GZF1	HP:0003093	Limited hip extension	9/9	OMIM:143095
64412	GZF1	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:143095
64412	GZF1	HP:0000823	Delayed puberty	-	OMIM:131300
64412	GZF1	HP:0040025	Clinodactyly of the 4th finger	2/9	OMIM:154780
64412	GZF1	HP:0000894	Short clavicles	-	OMIM:615777
64412	GZF1	HP:0004568	Beaking of vertebral bodies	-	OMIM:150250
64412	GZF1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
64412	GZF1	HP:0003298	Spina bifida occulta	-	OMIM:150250
64412	GZF1	HP:0003273	Hip contracture	-	OMIM:156550
64412	GZF1	HP:0045075	Sparse eyebrow	-	OMIM:143095
64412	GZF1	HP:0100250	Meningeal calcification	-	OMIM:154780
64412	GZF1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
64412	GZF1	HP:0000947	Dumbbell-shaped long bone	-	OMIM:156550
64412	GZF1	HP:0000946	Hypoplastic ilia	-	OMIM:154780
64412	GZF1	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:143200
64412	GZF1	HP:6000970	Diminished sulfotransferase activity in cultured fibroblasts	2/2	OMIM:143095
64412	GZF1	HP:0012283	Small distal femoral epiphysis	-	OMIM:154780
64412	GZF1	HP:0012284	Small proximal tibial epiphyses	-	OMIM:154780
64412	GZF1	HP:0000286	Epicanthus	-	OMIM:154780
64412	GZF1	HP:0000286	Epicanthus	1/7	OMIM:615777
64412	GZF1	HP:0000280	Coarse facial features	2/7	OMIM:615777
64412	GZF1	HP:0000272	Malar flattening	-	OMIM:154780
64412	GZF1	HP:0000272	Malar flattening	27/28	OMIM:184840
64412	GZF1	HP:0000272	Malar flattening	-	OMIM:150250
64412	GZF1	HP:0000272	Malar flattening	1/1	OMIM:156550
64412	GZF1	HP:0006471	Fixed elbow flexion	-	OMIM:143095
64412	GZF1	HP:0006462	Generalized bone demineralization	-	OMIM:143095
64412	GZF1	HP:0006456	Irregular proximal tibial epiphyses	-	OMIM:154780
64412	GZF1	HP:0007773	Vitreoretinopathy	-	OMIM:154780
64412	GZF1	HP:0007773	Vitreoretinopathy	-	OMIM:143200
64412	GZF1	HP:0006407	Irregular distal femoral epiphysis	-	OMIM:154780
64412	GZF1	HP:0002816	Genu recurvatum	3/6	OMIM:143095
64412	GZF1	HP:0002812	Coxa vara	-	OMIM:156550
64412	GZF1	HP:0002829	Arthralgia	-	OMIM:143095
64412	GZF1	HP:0002829	Arthralgia	20/20	OMIM:184840
64412	GZF1	HP:0002827	Hip dislocation	16/20	OMIM:150250
64412	GZF1	HP:0002827	Hip dislocation	3/7	OMIM:615777
64412	GZF1	HP:0002827	Hip dislocation	-	OMIM:156550
64412	GZF1	HP:0005086	Knee osteoarthritis	-	OMIM:154780
64412	GZF1	HP:0002808	Kyphosis	-	OMIM:143095
64412	GZF1	HP:0006375	Dumbbell-shaped femur	1/1	OMIM:156550
64412	GZF1	HP:0006361	Irregular femoral epiphysis	-	OMIM:154780
64412	GZF1	HP:0000252	Microcephaly	-	OMIM:615777
64412	GZF1	HP:0001552	Barrel-shaped chest	-	OMIM:143095
64412	GZF1	HP:0000218	High palate	-	OMIM:143095
64412	GZF1	HP:0000215	Thick upper lip vermilion	-	OMIM:154780
64412	GZF1	HP:0002857	Genu valgum	-	OMIM:131300
64412	GZF1	HP:0002857	Genu valgum	-	OMIM:143095
64412	GZF1	HP:0001537	Umbilical hernia	1/5	OMIM:617662
64412	GZF1	HP:0001537	Umbilical hernia	-	OMIM:156550
64412	GZF1	HP:0001533	Slender build	-	OMIM:131300
64412	GZF1	HP:0000201	Pierre-Robin sequence	4/9	OMIM:154780
64412	GZF1	HP:0000201	Pierre-Robin sequence	-	OMIM:184840
64412	GZF1	HP:0000204	Cleft upper lip	-	OMIM:150250
64412	GZF1	HP:0001511	Intrauterine growth retardation	-	OMIM:150250
64412	GZF1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
64412	GZF1	HP:0007807	Optic nerve compression	-	OMIM:131300
64412	GZF1	HP:0012368	Flat face	7/7	OMIM:615777
64412	GZF1	HP:0012368	Flat face	-	OMIM:150250
64412	GZF1	HP:0002938	Lumbar hyperlordosis	-	OMIM:143095
64412	GZF1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
64412	GZF1	HP:0002948	Vertebral fusion	8/16	OMIM:150250
64412	GZF1	HP:0002947	Cervical kyphosis	-	OMIM:150250
64412	GZF1	HP:0002947	Cervical kyphosis	1/5	OMIM:617662
64412	GZF1	HP:0002945	Intervertebral space narrowing	9/9	OMIM:143095
64412	GZF1	HP:0005180	Tricuspid regurgitation	-	OMIM:143095
64412	GZF1	HP:0000365	Hearing impairment	2/5	OMIM:617662
64412	GZF1	HP:0000365	Hearing impairment	-	OMIM:143095
64412	GZF1	HP:0000365	Hearing impairment	10/67	OMIM:131300
64412	GZF1	HP:0000365	Hearing impairment	4/19	OMIM:150250
64412	GZF1	HP:0011003	High myopia	5/5	OMIM:617662
64412	GZF1	HP:0000369	Low-set ears	-	OMIM:154780
64412	GZF1	HP:0000343	Long philtrum	HP:0040282	OMIM:143095
64412	GZF1	HP:0000343	Long philtrum	-	OMIM:154780
64412	GZF1	HP:0000343	Long philtrum	1/7	OMIM:615777
64412	GZF1	HP:0011001	Increased bone mineral density	-	OMIM:131300
64412	GZF1	HP:0000337	Broad forehead	HP:0040282	OMIM:143095
64412	GZF1	HP:0000347	Micrognathia	-	OMIM:154780
64412	GZF1	HP:0002982	Tibial bowing	-	OMIM:143095
64412	GZF1	HP:0002982	Tibial bowing	1/1	OMIM:156550
64412	GZF1	HP:0001650	Aortic valve stenosis	-	OMIM:143095
64412	GZF1	HP:0000316	Hypertelorism	-	OMIM:154780
64412	GZF1	HP:0000316	Hypertelorism	-	OMIM:143095
64412	GZF1	HP:0000316	Hypertelorism	-	OMIM:150250
64412	GZF1	HP:0000311	Round face	2/7	OMIM:615777
64412	GZF1	HP:0000311	Round face	-	OMIM:156550
64412	GZF1	HP:0001642	Pulmonic stenosis	-	OMIM:143095
64412	GZF1	HP:0001659	Aortic regurgitation	-	OMIM:143095
64412	GZF1	HP:0002986	Radial bowing	-	OMIM:154780
64412	GZF1	HP:0001653	Mitral regurgitation	-	OMIM:143095
64412	GZF1	HP:0001629	Ventricular septal defect	-	OMIM:143095
64412	GZF1	HP:0001629	Ventricular septal defect	-	OMIM:150250
64412	GZF1	HP:0001623	Breech presentation	3/6	OMIM:143095
64412	GZF1	HP:0002970	Genu varum	-	OMIM:615777
64412	GZF1	HP:0002970	Genu varum	1/1	OMIM:156550
64412	GZF1	HP:0002967	Cubitus valgus	-	OMIM:143095
64412	GZF1	HP:0001631	Atrial septal defect	-	OMIM:150250
64412	GZF1	HP:0000303	Mandibular prognathia	-	OMIM:131300
64412	GZF1	HP:0007957	Corneal opacity	-	OMIM:150250
64412	GZF1	HP:0006610	Wide intermamillary distance	-	OMIM:143095
64412	GZF1	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:154780
64412	GZF1	HP:0000407	Sensorineural hearing impairment	16/28	OMIM:184840
64412	GZF1	HP:0000403	Recurrent otitis media	4/9	OMIM:154780
64412	GZF1	HP:0000403	Recurrent otitis media	-	OMIM:156550
64412	GZF1	HP:0000405	Conductive hearing impairment	-	OMIM:150250
64412	GZF1	HP:0000405	Conductive hearing impairment	-	OMIM:156550
64412	GZF1	HP:0001718	Mitral stenosis	-	OMIM:143095
64412	GZF1	HP:0001714	Ventricular hypertrophy	-	OMIM:143095
64412	GZF1	HP:0005280	Depressed nasal bridge	27/28	OMIM:184840
64412	GZF1	HP:0005280	Depressed nasal bridge	-	OMIM:156550
64412	GZF1	HP:0005280	Depressed nasal bridge	9/9	OMIM:154780
64412	GZF1	HP:0005280	Depressed nasal bridge	-	OMIM:150250
64412	GZF1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
64412	GZF1	HP:0000478	Abnormality of the eye	0/3	OMIM:184840
64412	GZF1	HP:0000463	Anteverted nares	27/28	OMIM:184840
64412	GZF1	HP:0000463	Anteverted nares	-	OMIM:154780
64412	GZF1	HP:0000470	Short neck	-	OMIM:143095
64412	GZF1	HP:0000470	Short neck	-	OMIM:156550
64412	GZF1	HP:0000470	Short neck	1/7	OMIM:615777
64412	GZF1	HP:0001799	Short nail	-	OMIM:150250
64412	GZF1	HP:0001772	Talipes equinovalgus	-	OMIM:150250
64412	GZF1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
64412	GZF1	HP:0001763	Pes planus	-	OMIM:143095
64412	GZF1	HP:0001763	Pes planus	1/7	OMIM:615777
64412	GZF1	HP:0001762	Talipes equinovarus	3/5	OMIM:617662
64412	GZF1	HP:0001762	Talipes equinovarus	6/6	OMIM:143095
64412	GZF1	HP:0001762	Talipes equinovarus	15/20	OMIM:150250
64412	GZF1	HP:0025707	Hypoplastic fetal nasal bone	-	OMIM:154780
64412	GZF1	HP:0005462	Calcification of falx cerebri	-	OMIM:154780
64412	GZF1	HP:0000518	Cataract	-	OMIM:156550
64412	GZF1	HP:0000518	Cataract	-	OMIM:143200
64412	GZF1	HP:0000518	Cataract	9/9	OMIM:154780
64412	GZF1	HP:0001840	Metatarsus adductus	-	OMIM:615777
64412	GZF1	HP:0000520	Proptosis	2/4	OMIM:131300
64412	GZF1	HP:0000520	Proptosis	7/7	OMIM:615777
64412	GZF1	HP:0000520	Proptosis	-	OMIM:156550
64412	GZF1	HP:0000501	Glaucoma	1/5	OMIM:617662
64412	GZF1	HP:0000501	Glaucoma	-	OMIM:154780
64412	GZF1	HP:0000501	Glaucoma	-	OMIM:143200
64412	GZF1	HP:0000592	Blue sclerae	2/7	OMIM:615777
64412	GZF1	HP:0000586	Shallow orbits	-	OMIM:150250
64412	GZF1	HP:0011220	Prominent forehead	-	OMIM:150250
64412	GZF1	HP:0000572	Visual loss	-	OMIM:143200
64412	GZF1	HP:0000565	Esotropia	-	OMIM:154780
64412	GZF1	HP:0000567	Chorioretinal coloboma	2/5	OMIM:617662
64412	GZF1	HP:0000541	Retinal detachment	2/5	OMIM:617662
64412	GZF1	HP:0000541	Retinal detachment	-	OMIM:154780
64412	GZF1	HP:0000541	Retinal detachment	-	OMIM:156550
64412	GZF1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
64412	GZF1	HP:0000533	Chorioretinal atrophy	-	OMIM:143200
64412	GZF1	HP:0012514	Lower limb pain	4/4	OMIM:131300
64412	GZF1	HP:0000545	Myopia	1/1	OMIM:156550
64412	GZF1	HP:0000545	Myopia	-	OMIM:143200
64412	GZF1	HP:0000545	Myopia	9/9	OMIM:154780
64419	MTMR14	HP:0002460	Distal muscle weakness	4/4	OMIM:160150
64419	MTMR14	HP:0003738	Exercise-induced myalgia	HP:0040283	ORPHA:169189
64419	MTMR14	HP:0003701	Proximal muscle weakness	3/4	OMIM:160150
64419	MTMR14	HP:0003712	Skeletal muscle hypertrophy	0/1	OMIM:160150
64419	MTMR14	HP:0001290	Generalized hypotonia	1/1	OMIM:160150
64419	MTMR14	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:169189
64419	MTMR14	HP:0001270	Motor delay	-	OMIM:160150
64419	MTMR14	HP:0001288	Gait disturbance	HP:0040282	ORPHA:169189
64419	MTMR14	HP:0001284	Areflexia	13/14	OMIM:160150
64419	MTMR14	HP:0002522	Areflexia of lower limbs	HP:0040283	ORPHA:169189
64419	MTMR14	HP:0002505	Loss of ambulation	1/4	OMIM:160150
64419	MTMR14	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:169189
64419	MTMR14	HP:0003803	Type 1 muscle fiber predominance	-	OMIM:160150
64419	MTMR14	HP:0001371	Flexion contracture	-	OMIM:160150
64419	MTMR14	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:169189
64419	MTMR14	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:169189
64419	MTMR14	HP:0000006	Autosomal dominant inheritance	-	OMIM:160150
64419	MTMR14	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:169189
64419	MTMR14	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040282	ORPHA:169189
64419	MTMR14	HP:0008997	Proximal muscle weakness in upper limbs	1/1	OMIM:160150
64419	MTMR14	HP:0008981	Calf muscle hypertrophy	HP:0040283	ORPHA:169189
64419	MTMR14	HP:0008948	Proximal upper limb amyotrophy	1/1	OMIM:160150
64419	MTMR14	HP:0001436	Abnormality of the foot musculature	HP:0040282	ORPHA:169189
64419	MTMR14	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:169189
64419	MTMR14	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:169189
64419	MTMR14	HP:0003307	Hyperlordosis	-	OMIM:160150
64419	MTMR14	HP:0002047	Malignant hyperthermia	HP:0040284	ORPHA:169189
64419	MTMR14	HP:0003388	Easy fatigability	-	OMIM:160150
64419	MTMR14	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:169189
64419	MTMR14	HP:0008180	Mildly elevated creatine kinase	1/1	OMIM:160150
64419	MTMR14	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:169189
64419	MTMR14	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:169189
64419	MTMR14	HP:0003458	EMG: myopathic abnormalities	-	OMIM:160150
64419	MTMR14	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:169189
64419	MTMR14	HP:0010546	Muscle fibrillation	1/1	OMIM:160150
64419	MTMR14	HP:0010546	Muscle fibrillation	HP:0040282	ORPHA:169189
64419	MTMR14	HP:0003593	Infantile onset	1/2	OMIM:160150
64419	MTMR14	HP:0003577	Congenital onset	2/3	OMIM:160150
64419	MTMR14	HP:0010628	Facial palsy	-	OMIM:160150
64419	MTMR14	HP:0001048	Cavernous hemangioma	HP:0040283	ORPHA:169189
64419	MTMR14	HP:0003687	Centrally nucleated skeletal muscle fibers	HP:0040281	ORPHA:169189
64419	MTMR14	HP:0003687	Centrally nucleated skeletal muscle fibers	5/6	OMIM:160150
64419	MTMR14	HP:0003677	Slowly progressive	-	OMIM:160150
64419	MTMR14	HP:0007126	Proximal amyotrophy	1/1	OMIM:160150
64419	MTMR14	HP:0003621	Juvenile onset	1/4	OMIM:160150
64419	MTMR14	HP:0009053	Distal lower limb muscle weakness	1/1	OMIM:160150
64419	MTMR14	HP:0011463	Childhood onset	3/4	OMIM:160150
64419	MTMR14	HP:0012768	Neonatal asphyxia	HP:0040283	ORPHA:169189
64419	MTMR14	HP:0004488	Macrocephaly at birth	HP:0040282	ORPHA:169189
64419	MTMR14	HP:0000883	Thin ribs	HP:0040282	ORPHA:169189
64419	MTMR14	HP:0003236	Elevated circulating creatine kinase concentration	2/4	OMIM:160150
64419	MTMR14	HP:0100284	EMG: myotonic discharges	1/1	OMIM:160150
64419	MTMR14	HP:0030007	EMG: positive sharp waves	1/1	OMIM:160150
64419	MTMR14	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:169189
64419	MTMR14	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:169189
64419	MTMR14	HP:0001520	Large for gestational age	HP:0040282	ORPHA:169189
64419	MTMR14	HP:0005268	Miscarriage	HP:0040282	ORPHA:169189
64419	MTMR14	HP:0002938	Lumbar hyperlordosis	2/4	OMIM:160150
64419	MTMR14	HP:0030319	Weakness of facial musculature	2/4	OMIM:160150
64419	MTMR14	HP:0005335	Sleepy facial expression	-	OMIM:160150
64419	MTMR14	HP:0000467	Neck muscle weakness	3/4	OMIM:160150
64419	MTMR14	HP:0001771	Achilles tendon contracture	2/4	OMIM:160150
64419	MTMR14	HP:0000508	Ptosis	12/14	OMIM:160150
64419	MTMR14	HP:0000508	Ptosis	HP:0040282	ORPHA:169189
64419	MTMR14	HP:0000597	Ophthalmoparesis	3/4	OMIM:160150
64419	MTMR14	HP:0000544	External ophthalmoplegia	HP:0040283	ORPHA:169189
64419	MTMR14	HP:0000544	External ophthalmoplegia	-	OMIM:160150
64421	DCLRE1C	HP:0100806	Sepsis	HP:0040283	ORPHA:39041
64421	DCLRE1C	HP:0100806	Sepsis	1/1	OMIM:602450
64421	DCLRE1C	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:39041
64421	DCLRE1C	HP:0010976	Decreased total B cell count	-	OMIM:603554
64421	DCLRE1C	HP:0010976	Decreased total B cell count	1/1	OMIM:602450
64421	DCLRE1C	HP:0007549	Desquamation of skin soon after birth	HP:0040282	ORPHA:39041
64421	DCLRE1C	HP:0000007	Autosomal recessive inheritance	-	OMIM:602450
64421	DCLRE1C	HP:0000007	Autosomal recessive inheritance	-	OMIM:603554
64421	DCLRE1C	HP:0002665	Lymphoma	HP:0040283	ORPHA:39041
64421	DCLRE1C	HP:0031123	Recurrent gastroenteritis	HP:0040283	ORPHA:275
64421	DCLRE1C	HP:0000155	Oral ulcer	-	OMIM:602450
64421	DCLRE1C	HP:0008940	Generalized lymphadenopathy	1/1	OMIM:602450
64421	DCLRE1C	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:602450
64421	DCLRE1C	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:39041
64421	DCLRE1C	HP:0002732	Lymph node hypoplasia	-	OMIM:602450
64421	DCLRE1C	HP:0002718	Recurrent bacterial infections	HP:0040282	ORPHA:275
64421	DCLRE1C	HP:0002718	Recurrent bacterial infections	-	OMIM:603554
64421	DCLRE1C	HP:0002716	Lymphadenopathy	-	OMIM:603554
64421	DCLRE1C	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:39041
64421	DCLRE1C	HP:0002720	Decreased circulating IgA concentration	HP:0040282	ORPHA:275
64421	DCLRE1C	HP:0002028	Chronic diarrhea	HP:0040281	ORPHA:39041
64421	DCLRE1C	HP:0002028	Chronic diarrhea	1/1	OMIM:602450
64421	DCLRE1C	HP:0002014	Diarrhea	-	OMIM:603554
64421	DCLRE1C	HP:0002090	Pneumonia	HP:0040282	ORPHA:39041
64421	DCLRE1C	HP:0002090	Pneumonia	-	OMIM:603554
64421	DCLRE1C	HP:0002090	Pneumonia	-	OMIM:602450
64421	DCLRE1C	HP:0003593	Infantile onset	2/2	OMIM:602450
64421	DCLRE1C	HP:0002240	Hepatomegaly	-	OMIM:603554
64421	DCLRE1C	HP:0002240	Hepatomegaly	1/1	OMIM:602450
64421	DCLRE1C	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:39041
64421	DCLRE1C	HP:0200117	Recurrent upper and lower respiratory tract infections	HP:0040282	ORPHA:275
64421	DCLRE1C	HP:0002293	Alopecia of scalp	1/1	OMIM:602450
64421	DCLRE1C	HP:0020086	BCGitis	1/1	OMIM:602450
64421	DCLRE1C	HP:0001045	Vitiligo	HP:0040283	ORPHA:275
64421	DCLRE1C	HP:0001019	Erythroderma	HP:0040281	ORPHA:39041
64421	DCLRE1C	HP:0001019	Erythroderma	-	OMIM:603554
64421	DCLRE1C	HP:0100646	Thyroiditis	HP:0040283	ORPHA:39041
64421	DCLRE1C	HP:0001072	Thickened skin	HP:0040282	ORPHA:39041
64421	DCLRE1C	HP:0001072	Thickened skin	-	OMIM:603554
64421	DCLRE1C	HP:0200043	Verrucae	HP:0040282	ORPHA:275
64421	DCLRE1C	HP:0009098	Chronic oral candidiasis	HP:0040283	ORPHA:275
64421	DCLRE1C	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:39041
64421	DCLRE1C	HP:0001945	Fever	HP:0040282	ORPHA:39041
64421	DCLRE1C	HP:0001903	Anemia	-	OMIM:603554
64421	DCLRE1C	HP:0001903	Anemia	HP:0040283	ORPHA:39041
64421	DCLRE1C	HP:0004315	Decreased circulating IgG concentration	HP:0040282	ORPHA:275
64421	DCLRE1C	HP:0004332	Abnormal lymphocyte morphology	HP:0040281	ORPHA:39041
64421	DCLRE1C	HP:0003075	Hypoproteinemia	-	OMIM:603554
64421	DCLRE1C	HP:0005681	Juvenile rheumatoid arthritis	HP:0040283	ORPHA:275
64421	DCLRE1C	HP:0000778	Hypoplasia of the thymus	-	OMIM:603554
64421	DCLRE1C	HP:0004430	Severe combined immunodeficiency	HP:0040281	ORPHA:39041
64421	DCLRE1C	HP:0004430	Severe combined immunodeficiency	-	OMIM:602450
64421	DCLRE1C	HP:0004429	Recurrent viral infections	HP:0040283	ORPHA:275
64421	DCLRE1C	HP:0004429	Recurrent viral infections	-	OMIM:603554
64421	DCLRE1C	HP:0003139	Panhypogammaglobulinemia	-	OMIM:602450
64421	DCLRE1C	HP:0000872	Hashimoto thyroiditis	HP:0040284	ORPHA:275
64421	DCLRE1C	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:39041
64421	DCLRE1C	HP:0003212	Increased circulating IgE concentration	1/1	OMIM:602450
64421	DCLRE1C	HP:0030813	Absent tonsils	-	OMIM:602450
64421	DCLRE1C	HP:0045080	Decreased CD3+ T cell proportion	HP:0040283	ORPHA:275
64421	DCLRE1C	HP:0003249	Genital ulcers	-	OMIM:602450
64421	DCLRE1C	HP:0000989	Pruritus	HP:0040282	ORPHA:39041
64421	DCLRE1C	HP:0000988	Skin rash	HP:0040283	ORPHA:275
64421	DCLRE1C	HP:0000958	Dry skin	HP:0040282	ORPHA:39041
64421	DCLRE1C	HP:0000969	Edema	HP:0040282	ORPHA:39041
64421	DCLRE1C	HP:0000944	Abnormal metaphysis morphology	HP:0040283	ORPHA:39041
64421	DCLRE1C	HP:0001596	Alopecia	-	OMIM:603554
64421	DCLRE1C	HP:0001596	Alopecia	HP:0040281	ORPHA:39041
64421	DCLRE1C	HP:0001508	Failure to thrive	HP:0040283	ORPHA:275
64421	DCLRE1C	HP:0001508	Failure to thrive	-	OMIM:603554
64421	DCLRE1C	HP:0001508	Failure to thrive	2/2	OMIM:602450
64421	DCLRE1C	HP:0001508	Failure to thrive	HP:0040281	ORPHA:39041
64421	DCLRE1C	HP:0002841	Recurrent fungal infections	-	OMIM:603554
64421	DCLRE1C	HP:0000388	Otitis media	HP:0040283	ORPHA:275
64421	DCLRE1C	HP:0000388	Otitis media	-	OMIM:602450
64421	DCLRE1C	HP:0002960	Autoimmunity	HP:0040283	ORPHA:275
64421	DCLRE1C	HP:0002960	Autoimmunity	HP:0040283	ORPHA:39041
64421	DCLRE1C	HP:0005359	Aplasia of the thymus	-	OMIM:602450
64421	DCLRE1C	HP:0005365	Severe B lymphocytopenia	-	OMIM:603554
64421	DCLRE1C	HP:0031545	Abnormally low T cell receptor excision circle level	1/1	OMIM:602450
64421	DCLRE1C	HP:0011107	Recurrent aphthous stomatitis	HP:0040283	ORPHA:275
64421	DCLRE1C	HP:0001744	Splenomegaly	-	OMIM:603554
64421	DCLRE1C	HP:0001744	Splenomegaly	1/1	OMIM:602450
64421	DCLRE1C	HP:0001744	Splenomegaly	HP:0040282	ORPHA:39041
64421	DCLRE1C	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:275
64421	DCLRE1C	HP:0001831	Short toe	HP:0040283	ORPHA:39041
64421	DCLRE1C	HP:0005390	Recurrent opportunistic infections	HP:0040282	ORPHA:275
64421	DCLRE1C	HP:0030350	Erythematous papule	1/1	OMIM:602450
64421	DCLRE1C	HP:0001888	Decreased total lymphocyte count	1/1	OMIM:602450
64421	DCLRE1C	HP:0001880	Increased total eosinophil count	HP:0040282	ORPHA:39041
64421	DCLRE1C	HP:0001880	Increased total eosinophil count	-	OMIM:603554
64421	DCLRE1C	HP:0001880	Increased total eosinophil count	1/1	OMIM:602450
64421	DCLRE1C	HP:0001873	Thrombocytopenia	-	OMIM:603554
64423	INF2	HP:0002460	Distal muscle weakness	12/12	OMIM:614455
64423	INF2	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
64423	INF2	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:613237
64423	INF2	HP:0003774	Stage 5 chronic kidney disease	11/12	OMIM:614455
64423	INF2	HP:0001284	Areflexia	12/12	OMIM:614455
64423	INF2	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
64423	INF2	HP:0001265	Hyporeflexia	-	OMIM:614455
64423	INF2	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
64423	INF2	HP:0000097	Focal segmental glomerulosclerosis	-	OMIM:613237
64423	INF2	HP:0000097	Focal segmental glomerulosclerosis	-	OMIM:614455
64423	INF2	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
64423	INF2	HP:0000093	Proteinuria	-	OMIM:613237
64423	INF2	HP:0000093	Proteinuria	12/12	OMIM:614455
64423	INF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613237
64423	INF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:614455
64423	INF2	HP:0008944	Distal lower limb amyotrophy	12/12	OMIM:614455
64423	INF2	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
64423	INF2	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
64423	INF2	HP:0003376	Steppage gait	-	OMIM:614455
64423	INF2	HP:0003383	Onion bulb formation	6/6	OMIM:614455
64423	INF2	HP:0003447	Axonal loss	6/6	OMIM:614455
64423	INF2	HP:0003581	Adult onset	-	OMIM:613237
64423	INF2	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
64423	INF2	HP:0003676	Progressive	-	OMIM:614455
64423	INF2	HP:0002315	Headache	HP:0040283	ORPHA:656
64423	INF2	HP:0009830	Peripheral neuropathy	12/12	OMIM:614455
64423	INF2	HP:0007149	Distal upper limb amyotrophy	12/12	OMIM:614455
64423	INF2	HP:0003621	Juvenile onset	5/12	OMIM:614455
64423	INF2	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
64423	INF2	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
64423	INF2	HP:0001945	Fever	HP:0040283	ORPHA:656
64423	INF2	HP:0009027	Foot dorsiflexor weakness	-	OMIM:614455
64423	INF2	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
64423	INF2	HP:0000737	Irritability	HP:0040283	ORPHA:656
64423	INF2	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
64423	INF2	HP:0011462	Young adult onset	7/12	OMIM:614455
64423	INF2	HP:0000822	Hypertension	-	OMIM:613237
64423	INF2	HP:0003236	Elevated circulating creatine kinase concentration	5/11	OMIM:614455
64423	INF2	HP:0034337	Claw hand deformity	-	OMIM:614455
64423	INF2	HP:0000969	Edema	HP:0040281	ORPHA:656
64423	INF2	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
64423	INF2	HP:0002936	Distal sensory impairment	-	OMIM:614455
64423	INF2	HP:0002907	Microscopic hematuria	-	OMIM:613237
64423	INF2	HP:0000407	Sensorineural hearing impairment	4/12	OMIM:614455
64423	INF2	HP:0001765	Hammertoe	-	OMIM:614455
64423	INF2	HP:0001761	Pes cavus	-	OMIM:614455
64423	INF2	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
64432	MRPS25	HP:0007325	Generalized dystonia	1/1	OMIM:619025
64432	MRPS25	HP:0002421	Poor head control	1/1	OMIM:619025
64432	MRPS25	HP:0001270	Motor delay	1/1	OMIM:619025
64432	MRPS25	HP:0001263	Global developmental delay	1/1	OMIM:619025
64432	MRPS25	HP:0001385	Hip dysplasia	1/1	OMIM:619025
64432	MRPS25	HP:0001348	Brisk reflexes	1/1	OMIM:619025
64432	MRPS25	HP:0001338	Partial agenesis of the corpus callosum	1/1	OMIM:619025
64432	MRPS25	HP:0000007	Autosomal recessive inheritance	-	OMIM:619025
64432	MRPS25	HP:0002015	Dysphagia	1/1	OMIM:619025
64432	MRPS25	HP:0033128	Delayed ability to crawl	1/1	OMIM:619025
64432	MRPS25	HP:0003593	Infantile onset	1/1	OMIM:619025
64432	MRPS25	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:619025
64432	MRPS25	HP:0004322	Short stature	1/1	OMIM:619025
64432	MRPS25	HP:0031936	Delayed ability to walk	1/1	OMIM:619025
64432	MRPS25	HP:0000846	Adrenal insufficiency	1/1	OMIM:619025
64432	MRPS25	HP:0000252	Microcephaly	1/1	OMIM:619025
64432	MRPS25	HP:0001511	Intrauterine growth retardation	1/1	OMIM:619025
64432	MRPS25	HP:0032989	Delayed ability to roll over	1/1	OMIM:619025
64446	DNAI2	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
64446	DNAI2	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
64446	DNAI2	HP:0001217	Clubbing	HP:0040283	ORPHA:244
64446	DNAI2	HP:0000007	Autosomal recessive inheritance	-	OMIM:612444
64446	DNAI2	HP:0002643	Neonatal respiratory distress	3/5	OMIM:612444
64446	DNAI2	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
64446	DNAI2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
64446	DNAI2	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
64446	DNAI2	HP:0031245	Productive cough	HP:0040282	ORPHA:244
64446	DNAI2	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
64446	DNAI2	HP:0002090	Pneumonia	-	OMIM:612444
64446	DNAI2	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
64446	DNAI2	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
64446	DNAI2	HP:0002110	Bronchiectasis	11/12	OMIM:612444
64446	DNAI2	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
64446	DNAI2	HP:0008222	Female infertility	HP:0040283	ORPHA:244
64446	DNAI2	HP:0002257	Chronic rhinitis	-	OMIM:612444
64446	DNAI2	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
64446	DNAI2	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
64446	DNAI2	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
64446	DNAI2	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
64446	DNAI2	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
64446	DNAI2	HP:0003623	Neonatal onset	4/4	OMIM:612444
64446	DNAI2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
64446	DNAI2	HP:0012735	Cough	-	OMIM:612444
64446	DNAI2	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
64446	DNAI2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
64446	DNAI2	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
64446	DNAI2	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
64446	DNAI2	HP:0030828	Wheezing	HP:0040283	ORPHA:244
64446	DNAI2	HP:0003251	Male infertility	-	OMIM:612444
64446	DNAI2	HP:0003251	Male infertility	HP:0040282	ORPHA:244
64446	DNAI2	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
64446	DNAI2	HP:0033036	Decreased nasal nitric oxide	6/6	OMIM:612444
64446	DNAI2	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
64446	DNAI2	HP:0012265	Ciliary dyskinesia	-	OMIM:612444
64446	DNAI2	HP:0012256	Absent outer dynein arms	5/5	OMIM:612444
64446	DNAI2	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
64446	DNAI2	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
64446	DNAI2	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
64446	DNAI2	HP:0000389	Chronic otitis media	6/6	OMIM:612444
64446	DNAI2	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
64446	DNAI2	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
64446	DNAI2	HP:0001696	Situs inversus totalis	7/12	OMIM:612444
64446	DNAI2	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
64446	DNAI2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
64446	DNAI2	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
64446	DNAI2	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
64446	DNAI2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
64446	DNAI2	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
64446	DNAI2	HP:0000403	Recurrent otitis media	6/6	OMIM:612444
64446	DNAI2	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
64446	DNAI2	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
64446	DNAI2	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
64446	DNAI2	HP:0011109	Chronic sinusitis	6/6	OMIM:612444
64446	DNAI2	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
64446	DNAI2	HP:0011108	Recurrent sinusitis	-	OMIM:612444
64446	DNAI2	HP:0001746	Asplenia	HP:0040284	ORPHA:244
64446	DNAI2	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
64446	DNAI2	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
64446	DNAI2	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
64446	DNAI2	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
64446	DNAI2	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
64518	TEKT3	HP:0034913	Acrosomal hypoplasia	2/2	OMIM:620277
64518	TEKT3	HP:0000007	Autosomal recessive inheritance	-	OMIM:620277
64518	TEKT3	HP:0006321	Multiple non-erupting secondary teeth	2/2	OMIM:620277
64518	TEKT3	HP:0034011	Reduced progressive sperm motility	2/2	OMIM:620277
64518	TEKT3	HP:0000798	Oligozoospermia	2/2	OMIM:620277
64518	TEKT3	HP:0003251	Male infertility	2/2	OMIM:620277
64581	CLEC7A	HP:0100825	Cheilitis	HP:0040281	ORPHA:1334
64581	CLEC7A	HP:0001250	Seizure	HP:0040283	ORPHA:1334
64581	CLEC7A	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1334
64581	CLEC7A	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:1334
64581	CLEC7A	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:1334
64581	CLEC7A	HP:0000007	Autosomal recessive inheritance	-	OMIM:613108
64581	CLEC7A	HP:0000159	Abnormal lip morphology	HP:0040281	ORPHA:1334
64581	CLEC7A	HP:0000142	Abnormal vagina morphology	HP:0040282	ORPHA:1334
64581	CLEC7A	HP:0000153	Abnormality of the mouth	HP:0040281	ORPHA:1334
64581	CLEC7A	HP:0012115	Hepatitis	HP:0040283	ORPHA:1334
64581	CLEC7A	HP:0002719	Recurrent infections	HP:0040281	ORPHA:1334
64581	CLEC7A	HP:0002715	Abnormality of the immune system	HP:0040281	ORPHA:1334
64581	CLEC7A	HP:0002105	Hemoptysis	HP:0040283	ORPHA:1334
64581	CLEC7A	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:1334
64581	CLEC7A	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:1334
64581	CLEC7A	HP:0200034	Papule	HP:0040282	ORPHA:1334
64581	CLEC7A	HP:0200042	Skin ulcer	HP:0040281	ORPHA:1334
64581	CLEC7A	HP:0010783	Erythema	HP:0040281	ORPHA:1334
64581	CLEC7A	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:1334
64581	CLEC7A	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:1334
64581	CLEC7A	HP:0004370	Abnormality of temperature regulation	HP:0040283	ORPHA:1334
64581	CLEC7A	HP:0012735	Cough	HP:0040283	ORPHA:1334
64581	CLEC7A	HP:0000790	Hematuria	HP:0040283	ORPHA:1334
64581	CLEC7A	HP:0000989	Pruritus	HP:0040283	ORPHA:1334
64581	CLEC7A	HP:0000988	Skin rash	HP:0040281	ORPHA:1334
64581	CLEC7A	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:1334
64581	CLEC7A	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:1334
64581	CLEC7A	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:1334
64581	CLEC7A	HP:0012203	Onychomycosis	-	OMIM:613108
64581	CLEC7A	HP:0012204	Recurrent vulvovaginal candidiasis	-	OMIM:613108
64581	CLEC7A	HP:0030016	Dyspareunia	HP:0040282	ORPHA:1334
64581	CLEC7A	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:1334
64581	CLEC7A	HP:0001821	Broad nail	HP:0040281	ORPHA:1334
64581	CLEC7A	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1334
64601	VPS16	HP:0002444	Hypothalamic hamartoma	1/16	OMIM:619291
64601	VPS16	HP:0007302	Bipolar affective disorder	1/19	OMIM:619291
64601	VPS16	HP:0001256	Intellectual disability, mild	2/19	OMIM:619291
64601	VPS16	HP:0001250	Seizure	2/19	OMIM:619291
64601	VPS16	HP:0002506	Diffuse cerebral atrophy	4/19	OMIM:619291
64601	VPS16	HP:0002505	Loss of ambulation	3/19	OMIM:619291
64601	VPS16	HP:0012048	Oromandibular dystonia	3/19	OMIM:619291
64601	VPS16	HP:0001332	Dystonia	19/19	OMIM:619291
64601	VPS16	HP:0000006	Autosomal dominant inheritance	-	OMIM:619291
64601	VPS16	HP:0003596	Middle age onset	1/18	OMIM:619291
64601	VPS16	HP:0100710	Impulsivity	2/19	OMIM:619291
64601	VPS16	HP:0002342	Intellectual disability, moderate	3/19	OMIM:619291
64601	VPS16	HP:0002356	Writer's cramp	3/19	OMIM:619291
64601	VPS16	HP:0003621	Juvenile onset	11/18	OMIM:619291
64601	VPS16	HP:0031959	Leg dystonia	3/19	OMIM:619291
64601	VPS16	HP:0031960	Arm dystonia	3/19	OMIM:619291
64601	VPS16	HP:0000718	Aggressive behavior	1/19	OMIM:619291
64601	VPS16	HP:0000722	Compulsive behaviors	1/19	OMIM:619291
64601	VPS16	HP:0011463	Childhood onset	2/18	OMIM:619291
64601	VPS16	HP:0011462	Young adult onset	4/18	OMIM:619291
64601	VPS16	HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	4/16	OMIM:619291
64601	VPS16	HP:0000473	Torticollis	5/19	OMIM:619291
64682	ANAPC1	HP:0001118	Juvenile cataract	10/10	OMIM:618625
64682	ANAPC1	HP:0001118	Juvenile cataract	HP:0040281	ORPHA:221008
64682	ANAPC1	HP:0003761	Calcinosis	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0001263	Global developmental delay	2/10	OMIM:618625
64682	ANAPC1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0007418	Alopecia totalis	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0000026	Male hypogonadism	1/5	OMIM:618625
64682	ANAPC1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:221008
64682	ANAPC1	HP:0007556	Plantar hyperkeratosis	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0003995	Abnormality of the radial head	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0002671	Basal cell carcinoma	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618625
64682	ANAPC1	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:221008
64682	ANAPC1	HP:0000135	Hypogonadism	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0002750	Delayed skeletal maturation	2/10	OMIM:618625
64682	ANAPC1	HP:0002750	Delayed skeletal maturation	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0002014	Diarrhea	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0002013	Vomiting	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0002164	Nail dysplasia	HP:0040282	ORPHA:221008
64682	ANAPC1	HP:0008209	Premature ovarian insufficiency	2/5	OMIM:618625
64682	ANAPC1	HP:0008209	Premature ovarian insufficiency	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0002223	Absent eyebrow	7/10	OMIM:618625
64682	ANAPC1	HP:0200102	Sparse or absent eyelashes	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0008404	Nail dystrophy	2/10	OMIM:618625
64682	ANAPC1	HP:0009700	Finger symphalangism	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0001029	Poikiloderma	10/10	OMIM:618625
64682	ANAPC1	HP:0001029	Poikiloderma	HP:0040281	ORPHA:221008
64682	ANAPC1	HP:0001041	Facial erythema	HP:0040282	ORPHA:221008
64682	ANAPC1	HP:0001010	Hypopigmentation of the skin	HP:0040282	ORPHA:221008
64682	ANAPC1	HP:0001009	Telangiectasia	HP:0040282	ORPHA:221008
64682	ANAPC1	HP:0004979	Metaphyseal sclerosis	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0100671	Abnormal trabecular bone morphology	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0200044	Porokeratosis	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0009803	Short phalanx of finger	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0020110	Bone fracture	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0001909	Leukemia	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0001903	Anemia	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0001915	Aplastic anemia	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0010049	Short metacarpal	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0000698	Conical tooth	2/10	OMIM:618625
64682	ANAPC1	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0000691	Microdontia	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0000670	Carious teeth	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0004322	Short stature	6/10	OMIM:618625
64682	ANAPC1	HP:0004322	Short stature	HP:0040282	ORPHA:221008
64682	ANAPC1	HP:0004334	Dermal atrophy	HP:0040282	ORPHA:221008
64682	ANAPC1	HP:0003065	Patellar hypoplasia	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0005775	Multiple skeletal anomalies	HP:0040282	ORPHA:221008
64682	ANAPC1	HP:0000821	Hypothyroidism	2/10	OMIM:618625
64682	ANAPC1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0000957	Cafe-au-lait spot	3/10	OMIM:618625
64682	ANAPC1	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:221008
64682	ANAPC1	HP:0000962	Hyperkeratosis	4/10	OMIM:618625
64682	ANAPC1	HP:0000939	Osteoporosis	1/10	OMIM:618625
64682	ANAPC1	HP:0000938	Osteopenia	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0008070	Sparse hair	7/10	OMIM:618625
64682	ANAPC1	HP:0008070	Sparse hair	HP:0040282	ORPHA:221008
64682	ANAPC1	HP:0008066	Abnormal blistering of the skin	4/10	OMIM:618625
64682	ANAPC1	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0000282	Facial edema	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0006443	Patellar aplasia	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0002861	Melanoma	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0002860	Squamous cell carcinoma	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0031367	Metaphyseal striations	HP:0040283	ORPHA:221008
64682	ANAPC1	HP:0001518	Small for gestational age	HP:0040282	ORPHA:221008
64682	ANAPC1	HP:0001510	Growth delay	HP:0040282	ORPHA:221008
64682	ANAPC1	HP:0002970	Genu varum	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0004039	Abnormal ulnar metaphysis morphology	HP:0040284	ORPHA:221008
64682	ANAPC1	HP:0000403	Recurrent otitis media	2/10	OMIM:618625
64682	ANAPC1	HP:0000519	Developmental cataract	HP:0040282	ORPHA:221008
64682	ANAPC1	HP:0001816	Thin nail	2/10	OMIM:618625
64682	ANAPC1	HP:0000561	Absent eyelashes	5/10	OMIM:618625
64682	ANAPC1	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:221008
64699	TMPRSS3	HP:0000007	Autosomal recessive inheritance	-	OMIM:601072
64699	TMPRSS3	HP:0003577	Congenital onset	-	OMIM:601072
64699	TMPRSS3	HP:0011463	Childhood onset	-	OMIM:601072
64699	TMPRSS3	HP:0000407	Sensorineural hearing impairment	-	OMIM:601072
64711	HS3ST6	HP:0002572	Episodic vomiting	-	OMIM:619367
64711	HS3ST6	HP:0012027	Laryngeal edema	-	OMIM:619367
64711	HS3ST6	HP:0007514	Edema of the dorsum of hands	-	OMIM:619367
64711	HS3ST6	HP:0000006	Autosomal dominant inheritance	-	OMIM:619367
64711	HS3ST6	HP:0031244	Swollen lip	-	OMIM:619367
64711	HS3ST6	HP:0002027	Abdominal pain	-	OMIM:619367
64711	HS3ST6	HP:0002014	Diarrhea	-	OMIM:619367
64711	HS3ST6	HP:0100665	Angioedema	-	OMIM:619367
64711	HS3ST6	HP:0000282	Facial edema	-	OMIM:619367
64780	MICAL1	HP:0007334	Bilateral tonic-clonic seizure with focal onset	12/18	OMIM:600512
64780	MICAL1	HP:0012005	Deja vu aura	1/11	OMIM:600512
64780	MICAL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:600512
64780	MICAL1	HP:0002069	Bilateral tonic-clonic seizure	12/12	OMIM:600512
64780	MICAL1	HP:0003596	Middle age onset	1/12	OMIM:600512
64780	MICAL1	HP:0002266	Focal clonic seizure	1/11	OMIM:600512
64780	MICAL1	HP:0002384	Focal impaired awareness seizure	6/18	OMIM:600512
64780	MICAL1	HP:0002349	Focal aware seizure	15/30	OMIM:600512
64780	MICAL1	HP:0003621	Juvenile onset	4/12	OMIM:600512
64780	MICAL1	HP:0011462	Young adult onset	7/12	OMIM:600512
64780	MICAL1	HP:0032810	Focal sensory seizure with cephalic sensation	3/11	OMIM:600512
64780	MICAL1	HP:0032864	Focal aware sensory seizure with auditory features	4/12	OMIM:600512
64780	MICAL1	HP:0032759	Focal sensory seizure with vestibular features	1/11	OMIM:600512
64780	MICAL1	HP:0032773	Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole	1/11	OMIM:600512
64780	MICAL1	HP:0011159	Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	4/11	OMIM:600512
64780	MICAL1	HP:0011158	Focal sensory seizure with auditory features	13/29	OMIM:600512
64780	MICAL1	HP:0011161	Focal sensory seizure with olfactory features	1/11	OMIM:600512
64780	MICAL1	HP:0011165	Focal sensory seizure with visual features	2/11	OMIM:600512
64780	MICAL1	HP:0032898	Focal automatism seizure	1/11	OMIM:600512
64787	EPS8L2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617637
64787	EPS8L2	HP:0000365	Hearing impairment	2/2	OMIM:617637
64788	LMF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:246650
64788	LMF1	HP:0031290	Tuberous xanthoma	1/1	OMIM:246650
64788	LMF1	HP:0005978	Type II diabetes mellitus	1/1	OMIM:246650
64788	LMF1	HP:0002155	Hypertriglyceridemia	1/1	OMIM:246650
64788	LMF1	HP:0011462	Young adult onset	1/1	OMIM:246650
64788	LMF1	HP:0009125	Lipodystrophy	1/1	OMIM:246650
64788	LMF1	HP:0001733	Pancreatitis	1/1	OMIM:246650
64801	ARV1	HP:0001251	Ataxia	3/3	OMIM:617020
64801	ARV1	HP:0002521	Hypsarrhythmia	1/1	OMIM:617020
64801	ARV1	HP:0002509	Limb hypertonia	1/1	OMIM:617020
64801	ARV1	HP:0031165	Multifocal seizures	1/1	OMIM:617020
64801	ARV1	HP:0001332	Dystonia	1/1	OMIM:617020
64801	ARV1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617020
64801	ARV1	HP:0008936	Axial hypotonia	1/1	OMIM:617020
64801	ARV1	HP:0002020	Gastroesophageal reflux	1/1	OMIM:617020
64801	ARV1	HP:0002033	Poor suck	1/1	OMIM:617020
64801	ARV1	HP:0002133	Status epilepticus	1/1	OMIM:617020
64801	ARV1	HP:0002187	Intellectual disability, profound	3/3	OMIM:617020
64801	ARV1	HP:0003593	Infantile onset	4/4	OMIM:617020
64801	ARV1	HP:0200134	Epileptic encephalopathy	3/3	OMIM:617020
64801	ARV1	HP:0002376	Developmental regression	1/1	OMIM:617020
64801	ARV1	HP:0008499	High hypermetropia	1/1	OMIM:617020
64801	ARV1	HP:0012736	Profound global developmental delay	1/1	OMIM:617020
64801	ARV1	HP:0000737	Irritability	1/1	OMIM:617020
64801	ARV1	HP:0002835	Aspiration	1/1	OMIM:617020
64801	ARV1	HP:0007843	Attenuation of retinal blood vessels	1/1	OMIM:617020
64801	ARV1	HP:0000556	Retinal dystrophy	1/1	OMIM:617020
64802	NMNAT1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
64802	NMNAT1	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
64802	NMNAT1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
64802	NMNAT1	HP:0001116	Macular coloboma	3/4	OMIM:619260
64802	NMNAT1	HP:0001116	Macular coloboma	19/19	OMIM:608553
64802	NMNAT1	HP:0032286	Ultra-low vision with retained light perception	7/11	OMIM:608553
64802	NMNAT1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
64802	NMNAT1	HP:0001293	Cranial nerve compression	-	OMIM:131300
64802	NMNAT1	HP:0001272	Cerebellar atrophy	2/4	OMIM:619260
64802	NMNAT1	HP:0001270	Motor delay	HP:0040283	ORPHA:65
64802	NMNAT1	HP:0001250	Seizure	HP:0040282	ORPHA:65
64802	NMNAT1	HP:0001252	Hypotonia	1/3	OMIM:619260
64802	NMNAT1	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
64802	NMNAT1	HP:0001252	Hypotonia	2/7	OMIM:615777
64802	NMNAT1	HP:0001251	Ataxia	3/4	OMIM:619260
64802	NMNAT1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
64802	NMNAT1	HP:0001249	Intellectual disability	5/7	OMIM:615777
64802	NMNAT1	HP:0001263	Global developmental delay	4/4	OMIM:619260
64802	NMNAT1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
64802	NMNAT1	HP:0001263	Global developmental delay	-	OMIM:615777
64802	NMNAT1	HP:0007401	Macular atrophy	5/11	OMIM:608553
64802	NMNAT1	HP:0007401	Macular atrophy	1/1	OMIM:619260
64802	NMNAT1	HP:0002515	Waddling gait	54/102	OMIM:131300
64802	NMNAT1	HP:0001382	Joint hypermobility	-	OMIM:615777
64802	NMNAT1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
64802	NMNAT1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
64802	NMNAT1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
64802	NMNAT1	HP:0001324	Muscle weakness	40/96	OMIM:131300
64802	NMNAT1	HP:0002655	Spondyloepiphyseal dysplasia	4/4	OMIM:619260
64802	NMNAT1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
64802	NMNAT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
64802	NMNAT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
64802	NMNAT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619260
64802	NMNAT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608553
64802	NMNAT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
64802	NMNAT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
64802	NMNAT1	HP:0002650	Scoliosis	2/3	OMIM:619260
64802	NMNAT1	HP:0002650	Scoliosis	12/14	OMIM:131300
64802	NMNAT1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
64802	NMNAT1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
64802	NMNAT1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
64802	NMNAT1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
64802	NMNAT1	HP:0000175	Cleft palate	2/7	OMIM:615777
64802	NMNAT1	HP:0000154	Wide mouth	1/3	OMIM:619260
64802	NMNAT1	HP:0001483	Eye poking	HP:0040282	ORPHA:65
64802	NMNAT1	HP:0001483	Eye poking	1/11	OMIM:608553
64802	NMNAT1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
64802	NMNAT1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
64802	NMNAT1	HP:0007663	Reduced visual acuity	27/27	OMIM:608553
64802	NMNAT1	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
64802	NMNAT1	HP:0008936	Axial hypotonia	1/1	OMIM:619260
64802	NMNAT1	HP:0002750	Delayed skeletal maturation	1/1	OMIM:619260
64802	NMNAT1	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
64802	NMNAT1	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:619260
64802	NMNAT1	HP:0002059	Cerebral atrophy	1/3	OMIM:619260
64802	NMNAT1	HP:0003388	Easy fatigability	36/76	OMIM:131300
64802	NMNAT1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
64802	NMNAT1	HP:0003429	CNS hypomyelination	3/4	OMIM:619260
64802	NMNAT1	HP:0002188	Delayed CNS myelination	3/3	OMIM:619260
64802	NMNAT1	HP:0010582	Irregular epiphyses	3/3	OMIM:619260
64802	NMNAT1	HP:0003593	Infantile onset	3/3	OMIM:619260
64802	NMNAT1	HP:0003593	Infantile onset	8/9	OMIM:608553
64802	NMNAT1	HP:0002273	Tetraparesis	1/3	OMIM:619260
64802	NMNAT1	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
64802	NMNAT1	HP:0032027	Retinal dots	8/8	OMIM:608553
64802	NMNAT1	HP:0003510	Severe short stature	7/7	OMIM:615777
64802	NMNAT1	HP:0002352	Leukoencephalopathy	2/4	OMIM:619260
64802	NMNAT1	HP:0002318	Cervical myelopathy	1/3	OMIM:619260
64802	NMNAT1	HP:0002315	Headache	-	OMIM:131300
64802	NMNAT1	HP:0004976	Knee dislocation	6/7	OMIM:615777
64802	NMNAT1	HP:0100660	Dyskinesia	1/1	OMIM:619260
64802	NMNAT1	HP:0009803	Short phalanx of finger	-	OMIM:615777
64802	NMNAT1	HP:0200056	Macular scar	1/11	OMIM:608553
64802	NMNAT1	HP:0008499	High hypermetropia	1/1	OMIM:619260
64802	NMNAT1	HP:0032123	Ultra-low vision	1/11	OMIM:608553
64802	NMNAT1	HP:0009763	Limb pain	63/92	OMIM:131300
64802	NMNAT1	HP:0003621	Juvenile onset	8/19	OMIM:180100
64802	NMNAT1	HP:0003621	Juvenile onset	-	OMIM:131300
64802	NMNAT1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
64802	NMNAT1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
64802	NMNAT1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
64802	NMNAT1	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
64802	NMNAT1	HP:0000639	Nystagmus	1/3	OMIM:619260
64802	NMNAT1	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
64802	NMNAT1	HP:0000639	Nystagmus	12/18	OMIM:608553
64802	NMNAT1	HP:6001056	Out-toeing	-	OMIM:131300
64802	NMNAT1	HP:0000651	Diplopia	-	OMIM:131300
64802	NMNAT1	HP:0000648	Optic atrophy	-	OMIM:608553
64802	NMNAT1	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
64802	NMNAT1	HP:0000613	Photophobia	HP:0040282	ORPHA:65
64802	NMNAT1	HP:0000613	Photophobia	HP:0040283	OMIM:608553
64802	NMNAT1	HP:0001956	Truncal obesity	2/7	OMIM:615777
64802	NMNAT1	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
64802	NMNAT1	HP:0001903	Anemia	HP:0040283	OMIM:131300
64802	NMNAT1	HP:0010049	Short metacarpal	-	OMIM:615777
64802	NMNAT1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
64802	NMNAT1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
64802	NMNAT1	HP:0000678	Dental crowding	-	OMIM:615777
64802	NMNAT1	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
64802	NMNAT1	HP:0000662	Nyctalopia	26/28	OMIM:180100
64802	NMNAT1	HP:0000662	Nyctalopia	2/18	OMIM:608553
64802	NMNAT1	HP:0000670	Carious teeth	-	OMIM:131300
64802	NMNAT1	HP:0011304	Broad thumb	2/7	OMIM:615777
64802	NMNAT1	HP:0000668	Hypodontia	-	OMIM:615777
64802	NMNAT1	HP:0000664	Synophrys	-	OMIM:615777
64802	NMNAT1	HP:0000664	Synophrys	1/3	OMIM:619260
64802	NMNAT1	HP:0000666	Horizontal nystagmus	1/11	OMIM:608553
64802	NMNAT1	HP:0004322	Short stature	1/1	OMIM:619260
64802	NMNAT1	HP:0005667	Os odontoideum	1/3	OMIM:619260
64802	NMNAT1	HP:0006958	Abnormal auditory evoked potentials	2/2	OMIM:619260
64802	NMNAT1	HP:0004396	Poor appetite	-	OMIM:131300
64802	NMNAT1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
64802	NMNAT1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
64802	NMNAT1	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
64802	NMNAT1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
64802	NMNAT1	HP:0003026	Short long bone	7/7	OMIM:615777
64802	NMNAT1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
64802	NMNAT1	HP:0031936	Delayed ability to walk	3/3	OMIM:619260
64802	NMNAT1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
64802	NMNAT1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
64802	NMNAT1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
64802	NMNAT1	HP:0000750	Delayed speech and language development	-	OMIM:615777
64802	NMNAT1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
64802	NMNAT1	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
64802	NMNAT1	HP:0011463	Childhood onset	3/19	OMIM:180100
64802	NMNAT1	HP:0011463	Childhood onset	1/9	OMIM:608553
64802	NMNAT1	HP:0011462	Young adult onset	8/19	OMIM:180100
64802	NMNAT1	HP:0011461	Fetal onset	7/7	OMIM:615777
64802	NMNAT1	HP:0012765	Widened cerebellar subarachnoid space	1/1	OMIM:619260
64802	NMNAT1	HP:0000774	Narrow chest	2/7	OMIM:615777
64802	NMNAT1	HP:0000926	Platyspondyly	1/7	OMIM:615777
64802	NMNAT1	HP:0003180	Flat acetabular roof	-	OMIM:615777
64802	NMNAT1	HP:0004482	Relative macrocephaly	-	OMIM:615777
64802	NMNAT1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
64802	NMNAT1	HP:0000823	Delayed puberty	-	OMIM:131300
64802	NMNAT1	HP:0040079	Irregular dentition	2/3	OMIM:619260
64802	NMNAT1	HP:0000894	Short clavicles	-	OMIM:615777
64802	NMNAT1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
64802	NMNAT1	HP:0004586	Biconcave vertebral bodies	2/3	OMIM:619260
64802	NMNAT1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
64802	NMNAT1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
64802	NMNAT1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
64802	NMNAT1	HP:0000286	Epicanthus	1/7	OMIM:615777
64802	NMNAT1	HP:0000280	Coarse facial features	2/7	OMIM:615777
64802	NMNAT1	HP:0000280	Coarse facial features	1/1	OMIM:619260
64802	NMNAT1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
64802	NMNAT1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
64802	NMNAT1	HP:0007737	Bone spicule pigmentation of the retina	1/11	OMIM:608553
64802	NMNAT1	HP:0002827	Hip dislocation	3/7	OMIM:615777
64802	NMNAT1	HP:0000252	Microcephaly	-	OMIM:615777
64802	NMNAT1	HP:0002857	Genu valgum	-	OMIM:131300
64802	NMNAT1	HP:0001533	Slender build	-	OMIM:131300
64802	NMNAT1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
64802	NMNAT1	HP:0001510	Growth delay	4/4	OMIM:619260
64802	NMNAT1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
64802	NMNAT1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
64802	NMNAT1	HP:0007843	Attenuation of retinal blood vessels	16/21	OMIM:608553
64802	NMNAT1	HP:0007843	Attenuation of retinal blood vessels	2/4	OMIM:619260
64802	NMNAT1	HP:0007814	Retinal pigment epithelial mottling	4/11	OMIM:608553
64802	NMNAT1	HP:0007807	Optic nerve compression	-	OMIM:131300
64802	NMNAT1	HP:0012368	Flat face	7/7	OMIM:615777
64802	NMNAT1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
64802	NMNAT1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
64802	NMNAT1	HP:0000365	Hearing impairment	10/67	OMIM:131300
64802	NMNAT1	HP:0011003	High myopia	1/3	OMIM:619260
64802	NMNAT1	HP:0000343	Long philtrum	1/7	OMIM:615777
64802	NMNAT1	HP:0011001	Increased bone mineral density	-	OMIM:131300
64802	NMNAT1	HP:0000311	Round face	2/7	OMIM:615777
64802	NMNAT1	HP:0002970	Genu varum	-	OMIM:615777
64802	NMNAT1	HP:0000303	Mandibular prognathia	-	OMIM:131300
64802	NMNAT1	HP:0031609	Geographic atrophy	1/1	OMIM:619260
64802	NMNAT1	HP:0007988	Macular hypopigmentation	1/11	OMIM:608553
64802	NMNAT1	HP:0000407	Sensorineural hearing impairment	4/4	OMIM:619260
64802	NMNAT1	HP:0005280	Depressed nasal bridge	1/1	OMIM:619260
64802	NMNAT1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
64802	NMNAT1	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
64802	NMNAT1	HP:0012444	Brain atrophy	1/1	OMIM:619260
64802	NMNAT1	HP:0000470	Short neck	1/7	OMIM:615777
64802	NMNAT1	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
64802	NMNAT1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
64802	NMNAT1	HP:0001763	Pes planus	1/7	OMIM:615777
64802	NMNAT1	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
64802	NMNAT1	HP:0000518	Cataract	1/3	OMIM:619260
64802	NMNAT1	HP:0000518	Cataract	HP:0040282	ORPHA:65
64802	NMNAT1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
64802	NMNAT1	HP:0001840	Metatarsus adductus	-	OMIM:615777
64802	NMNAT1	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
64802	NMNAT1	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
64802	NMNAT1	HP:0000520	Proptosis	2/4	OMIM:131300
64802	NMNAT1	HP:0000520	Proptosis	7/7	OMIM:615777
64802	NMNAT1	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
64802	NMNAT1	HP:0000505	Visual impairment	3/3	OMIM:619260
64802	NMNAT1	HP:0000575	Scotoma	5/18	OMIM:180100
64802	NMNAT1	HP:0000577	Exotropia	2/3	OMIM:619260
64802	NMNAT1	HP:0000592	Blue sclerae	2/7	OMIM:615777
64802	NMNAT1	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
64802	NMNAT1	HP:0000563	Keratoconus	1/8	OMIM:608553
64802	NMNAT1	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
64802	NMNAT1	HP:0000540	Hypermetropia	6/7	OMIM:608553
64802	NMNAT1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
64802	NMNAT1	HP:0000550	Undetectable electroretinogram	2/11	OMIM:608553
64802	NMNAT1	HP:0000550	Undetectable electroretinogram	4/4	OMIM:619260
64802	NMNAT1	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
64802	NMNAT1	HP:0000551	Color vision defect	1/11	OMIM:608553
64802	NMNAT1	HP:0012514	Lower limb pain	4/4	OMIM:131300
64802	NMNAT1	HP:0000546	Retinal degeneration	1/1	OMIM:619260
64802	NMNAT1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
64802	NMNAT1	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
64802	NMNAT1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
64802	NMNAT1	HP:0000543	Optic disc pallor	12/21	OMIM:608553
64802	NMNAT1	HP:0000543	Optic disc pallor	2/4	OMIM:619260
64802	NMNAT1	HP:0000545	Myopia	-	OMIM:180100
64805	P2RY12	HP:0000007	Autosomal recessive inheritance	-	OMIM:609821
64805	P2RY12	HP:0004866	Impaired ADP-induced platelet aggregation	-	OMIM:609821
64805	P2RY12	HP:0004846	Prolonged bleeding after surgery	-	OMIM:609821
64805	P2RY12	HP:0001934	Persistent bleeding after trauma	-	OMIM:609821
64805	P2RY12	HP:0000978	Bruising susceptibility	-	OMIM:609821
64805	P2RY12	HP:0031364	Ecchymosis	-	OMIM:609821
64805	P2RY12	HP:0000421	Epistaxis	-	OMIM:609821
64805	P2RY12	HP:0001892	Abnormal bleeding	-	OMIM:609821
64834	ELOVL1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
64834	ELOVL1	HP:0001133	Constriction of peripheral visual field	1/2	OMIM:618527
64834	ELOVL1	HP:0001270	Motor delay	2/2	OMIM:618527
64834	ELOVL1	HP:0001251	Ataxia	2/2	OMIM:618527
64834	ELOVL1	HP:0001249	Intellectual disability	0/2	OMIM:618527
64834	ELOVL1	HP:0001260	Dysarthria	1/2	OMIM:618527
64834	ELOVL1	HP:0001258	Spastic paraplegia	2/2	OMIM:618527
64834	ELOVL1	HP:0001257	Spasticity	2/2	OMIM:618527
64834	ELOVL1	HP:0001348	Brisk reflexes	1/2	OMIM:618527
64834	ELOVL1	HP:0000011	Neurogenic bladder	-	OMIM:618527
64834	ELOVL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
64834	ELOVL1	HP:0001337	Tremor	1/2	OMIM:618527
64834	ELOVL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
64834	ELOVL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618527
64834	ELOVL1	HP:0001310	Dysmetria	1/2	OMIM:618527
64834	ELOVL1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
64834	ELOVL1	HP:0007663	Reduced visual acuity	-	OMIM:618527
64834	ELOVL1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
64834	ELOVL1	HP:0003487	Babinski sign	1/2	OMIM:618527
64834	ELOVL1	HP:0003429	CNS hypomyelination	1/2	OMIM:618527
64834	ELOVL1	HP:0003593	Infantile onset	2/2	OMIM:618527
64834	ELOVL1	HP:0001036	Parakeratosis	2/2	OMIM:618527
64834	ELOVL1	HP:0025092	Epidermal acanthosis	2/2	OMIM:618527
64834	ELOVL1	HP:0003621	Juvenile onset	8/19	OMIM:180100
64834	ELOVL1	HP:0000639	Nystagmus	2/2	OMIM:618527
64834	ELOVL1	HP:0000613	Photophobia	1/2	OMIM:618527
64834	ELOVL1	HP:0000662	Nyctalopia	26/28	OMIM:180100
64834	ELOVL1	HP:0011463	Childhood onset	3/19	OMIM:180100
64834	ELOVL1	HP:0011462	Young adult onset	8/19	OMIM:180100
64834	ELOVL1	HP:0000958	Dry skin	2/2	OMIM:618527
64834	ELOVL1	HP:0000956	Acanthosis nigricans	-	OMIM:618527
64834	ELOVL1	HP:0000962	Hyperkeratosis	2/2	OMIM:618527
64834	ELOVL1	HP:0008064	Ichthyosis	2/2	OMIM:618527
64834	ELOVL1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
64834	ELOVL1	HP:0001583	Rotary nystagmus	1/2	OMIM:618527
64834	ELOVL1	HP:0000217	Xerostomia	1/2	OMIM:618527
64834	ELOVL1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
64834	ELOVL1	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:618527
64834	ELOVL1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
64834	ELOVL1	HP:0000575	Scotoma	5/18	OMIM:180100
64834	ELOVL1	HP:0000543	Optic disc pallor	1/2	OMIM:618527
64834	ELOVL1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
64834	ELOVL1	HP:0000545	Myopia	-	OMIM:180100
64837	KLC2	HP:0001270	Motor delay	-	OMIM:609541
64837	KLC2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:320406
64837	KLC2	HP:0001260	Dysarthria	HP:0040282	ORPHA:320406
64837	KLC2	HP:0001260	Dysarthria	19/22	OMIM:609541
64837	KLC2	HP:0001258	Spastic paraplegia	-	OMIM:609541
64837	KLC2	HP:0002540	Inability to walk	3/22	OMIM:609541
64837	KLC2	HP:0001371	Flexion contracture	-	OMIM:609541
64837	KLC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:609541
64837	KLC2	HP:0002650	Scoliosis	HP:0040282	ORPHA:320406
64837	KLC2	HP:0002650	Scoliosis	14/22	OMIM:609541
64837	KLC2	HP:0002600	Hyporeflexia of lower limbs	HP:0040282	ORPHA:320406
64837	KLC2	HP:0008944	Distal lower limb amyotrophy	HP:0040282	ORPHA:320406
64837	KLC2	HP:0003390	Sensory axonal neuropathy	-	OMIM:609541
64837	KLC2	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:320406
64837	KLC2	HP:0003380	Decreased number of peripheral myelinated nerve fibers	HP:0040282	ORPHA:320406
64837	KLC2	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:320406
64837	KLC2	HP:0003487	Babinski sign	2/22	OMIM:609541
64837	KLC2	HP:0003438	Absent Achilles reflex	14/22	OMIM:609541
64837	KLC2	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:320406
64837	KLC2	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:320406
64837	KLC2	HP:0002267	Exaggerated startle response	HP:0040282	ORPHA:320406
64837	KLC2	HP:0002267	Exaggerated startle response	22/22	OMIM:609541
64837	KLC2	HP:0003593	Infantile onset	17/18	OMIM:609541
64837	KLC2	HP:0007020	Progressive spastic paraplegia	HP:0040282	ORPHA:320406
64837	KLC2	HP:0007002	Motor axonal neuropathy	-	OMIM:609541
64837	KLC2	HP:0007054	Proximal hyperreflexia	HP:0040282	ORPHA:320406
64837	KLC2	HP:0007054	Proximal hyperreflexia	19/22	OMIM:609541
64837	KLC2	HP:0003693	Distal amyotrophy	HP:0040281	ORPHA:320406
64837	KLC2	HP:0003693	Distal amyotrophy	19/22	OMIM:609541
64837	KLC2	HP:0003676	Progressive	-	OMIM:609541
64837	KLC2	HP:0000639	Nystagmus	HP:0040283	ORPHA:320406
64837	KLC2	HP:0000639	Nystagmus	17/22	OMIM:609541
64837	KLC2	HP:0000648	Optic atrophy	HP:0040281	ORPHA:320406
64837	KLC2	HP:0000648	Optic atrophy	21/22	OMIM:609541
64837	KLC2	HP:0011463	Childhood onset	1/18	OMIM:609541
64837	KLC2	HP:0011448	Ankle clonus	8/22	OMIM:609541
64837	KLC2	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:320406
64837	KLC2	HP:0000975	Hyperhidrosis	16/22	OMIM:609541
64837	KLC2	HP:0002828	Multiple joint contractures	HP:0040281	ORPHA:320406
64837	KLC2	HP:0002808	Kyphosis	14/22	OMIM:609541
64837	KLC2	HP:0001761	Pes cavus	HP:0040282	ORPHA:320406
64837	KLC2	HP:0001761	Pes cavus	-	OMIM:609541
64837	KLC2	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:320406
64837	KLC2	HP:0000543	Optic disc pallor	-	OMIM:609541
64840	PORCN	HP:0001171	Split hand	1/1	OMIM:305600
64840	PORCN	HP:0001171	Split hand	HP:0040281	ORPHA:2092
64840	PORCN	HP:0001156	Brachydactyly	-	OMIM:305600
64840	PORCN	HP:0001162	Postaxial hand polydactyly	-	OMIM:305600
64840	PORCN	HP:0001161	Hand polydactyly	HP:0040281	ORPHA:2092
64840	PORCN	HP:0002475	Myelomeningocele	-	OMIM:305600
64840	PORCN	HP:0002414	Spina bifida	HP:0040282	ORPHA:2092
64840	PORCN	HP:0001274	Agenesis of corpus callosum	-	OMIM:305600
64840	PORCN	HP:0001249	Intellectual disability	-	OMIM:305600
64840	PORCN	HP:0002557	Hypoplastic nipples	-	OMIM:305600
64840	PORCN	HP:0002558	Supernumerary nipple	-	OMIM:305600
64840	PORCN	HP:0002566	Intestinal malrotation	-	OMIM:305600
64840	PORCN	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:2092
64840	PORCN	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2092
64840	PORCN	HP:0000085	Horseshoe kidney	-	OMIM:305600
64840	PORCN	HP:0000085	Horseshoe kidney	HP:0040282	ORPHA:2092
64840	PORCN	HP:0000066	Labial hypoplasia	-	OMIM:305600
64840	PORCN	HP:0000060	Clitoral hypoplasia	-	OMIM:305600
64840	PORCN	HP:0000073	Ureteral duplication	-	OMIM:305600
64840	PORCN	HP:0001374	Congenital hip dislocation	-	OMIM:305600
64840	PORCN	HP:0001382	Joint hypermobility	-	OMIM:305600
64840	PORCN	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2092
64840	PORCN	HP:0000023	Inguinal hernia	-	OMIM:305600
64840	PORCN	HP:0000028	Cryptorchidism	-	OMIM:305600
64840	PORCN	HP:0007546	Linear hyperpigmentation	-	OMIM:305600
64840	PORCN	HP:0008839	Hypoplastic pelvis	HP:0040282	ORPHA:2092
64840	PORCN	HP:0007510	Focal dermal aplasia/hypoplasia	1/1	OMIM:305600
64840	PORCN	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:2092
64840	PORCN	HP:0002650	Scoliosis	HP:0040282	ORPHA:2092
64840	PORCN	HP:0002650	Scoliosis	-	OMIM:305600
64840	PORCN	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:2092
64840	PORCN	HP:0000175	Cleft palate	-	OMIM:305600
64840	PORCN	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:2092
64840	PORCN	HP:0007676	Hypoplasia of the iris	HP:0040282	ORPHA:2092
64840	PORCN	HP:0007663	Reduced visual acuity	-	OMIM:305600
64840	PORCN	HP:0006297	Enamel hypoplasia	-	OMIM:305600
64840	PORCN	HP:0007588	Reticular hyperpigmentation	-	OMIM:305600
64840	PORCN	HP:0000126	Hydronephrosis	-	OMIM:305600
64840	PORCN	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2092
64840	PORCN	HP:0001423	X-linked dominant inheritance	-	OMIM:305600
64840	PORCN	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:2092
64840	PORCN	HP:0002036	Hiatus hernia	-	OMIM:305600
64840	PORCN	HP:0002027	Abdominal pain	HP:0040283	ORPHA:2092
64840	PORCN	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:2092
64840	PORCN	HP:0100560	Upper limb asymmetry	HP:0040281	ORPHA:2092
64840	PORCN	HP:0100559	Lower limb asymmetry	HP:0040281	ORPHA:2092
64840	PORCN	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:2092
64840	PORCN	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2092
64840	PORCN	HP:0011939	3-4 finger cutaneous syndactyly	1/1	OMIM:305600
64840	PORCN	HP:0002164	Nail dysplasia	-	OMIM:305600
64840	PORCN	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:2092
64840	PORCN	HP:0011847	Giant cell tumor of bone	HP:0040283	ORPHA:2092
64840	PORCN	HP:0003577	Congenital onset	1/1	OMIM:305600
64840	PORCN	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:2092
64840	PORCN	HP:0002232	Patchy alopecia	-	OMIM:305600
64840	PORCN	HP:0008404	Nail dystrophy	-	OMIM:305600
64840	PORCN	HP:0100790	Hernia	HP:0040281	ORPHA:2092
64840	PORCN	HP:0002299	Brittle hair	-	OMIM:305600
64840	PORCN	HP:0001010	Hypopigmentation of the skin	1/1	OMIM:305600
64840	PORCN	HP:0001009	Telangiectasia	-	OMIM:305600
64840	PORCN	HP:0001018	Abnormal palmar dermatoglyphics	HP:0040281	ORPHA:2092
64840	PORCN	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:2092
64840	PORCN	HP:0200036	Skin nodule	HP:0040282	ORPHA:2092
64840	PORCN	HP:0100670	Coarse metaphyseal trabecularization	HP:0040281	ORPHA:2092
64840	PORCN	HP:0010807	Open bite	HP:0040282	ORPHA:2092
64840	PORCN	HP:0009804	Tooth agenesis	HP:0040281	ORPHA:2092
64840	PORCN	HP:0009803	Short phalanx of finger	-	OMIM:305600
64840	PORCN	HP:0001083	Ectopia lentis	-	OMIM:305600
64840	PORCN	HP:0001083	Ectopia lentis	HP:0040282	ORPHA:2092
64840	PORCN	HP:0010783	Erythema	HP:0040282	ORPHA:2092
64840	PORCN	HP:0010740	Osteopathia striata	-	OMIM:305600
64840	PORCN	HP:0010743	Short metatarsal	-	OMIM:305600
64840	PORCN	HP:0002308	Chiari malformation	-	OMIM:305600
64840	PORCN	HP:0004930	Abnormality of the pulmonary vasculature	HP:0040283	ORPHA:2092
64840	PORCN	HP:0000639	Nystagmus	-	OMIM:305600
64840	PORCN	HP:0000648	Optic atrophy	-	OMIM:305600
64840	PORCN	HP:0000612	Iris coloboma	-	OMIM:305600
64840	PORCN	HP:0000612	Iris coloboma	HP:0040282	ORPHA:2092
64840	PORCN	HP:0010049	Short metacarpal	-	OMIM:305600
64840	PORCN	HP:0010044	Short 4th metacarpal	1/1	OMIM:305600
64840	PORCN	HP:0000682	Abnormal dental enamel morphology	HP:0040281	ORPHA:2092
64840	PORCN	HP:0000684	Delayed eruption of teeth	-	OMIM:305600
64840	PORCN	HP:0000677	Oligodontia	-	OMIM:305600
64840	PORCN	HP:0000689	Dental malocclusion	-	OMIM:305600
64840	PORCN	HP:0000668	Hypodontia	-	OMIM:305600
64840	PORCN	HP:0004322	Short stature	-	OMIM:305600
64840	PORCN	HP:0004334	Dermal atrophy	-	OMIM:305600
64840	PORCN	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:2092
64840	PORCN	HP:0012733	Macule	HP:0040281	ORPHA:2092
64840	PORCN	HP:0012740	Papilloma	HP:0040281	ORPHA:2092
64840	PORCN	HP:0009124	Abnormal adipose tissue morphology	HP:0040283	ORPHA:2092
64840	PORCN	HP:0000773	Short ribs	-	OMIM:305600
64840	PORCN	HP:0000773	Short ribs	HP:0040282	ORPHA:2092
64840	PORCN	HP:0000776	Congenital diaphragmatic hernia	-	OMIM:305600
64840	PORCN	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:2092
64840	PORCN	HP:0003191	Cleft ala nasi	-	OMIM:305600
64840	PORCN	HP:0000894	Short clavicles	HP:0040282	ORPHA:2092
64840	PORCN	HP:0045026	Abnormal mediastinum morphology	HP:0040283	ORPHA:2092
64840	PORCN	HP:0003298	Spina bifida occulta	-	OMIM:305600
64840	PORCN	HP:0033001	Laryngeal papilloma	-	OMIM:305600
64840	PORCN	HP:0000963	Thin skin	HP:0040281	ORPHA:2092
64840	PORCN	HP:0008070	Sparse hair	-	OMIM:305600
64840	PORCN	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:2092
64840	PORCN	HP:0009380	Finger aplasia	-	OMIM:305600
64840	PORCN	HP:0009381	Short finger	-	OMIM:305600
64840	PORCN	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:2092
64840	PORCN	HP:0001596	Alopecia	HP:0040282	ORPHA:2092
64840	PORCN	HP:0000238	Hydrocephalus	-	OMIM:305600
64840	PORCN	HP:0000252	Microcephaly	-	OMIM:305600
64840	PORCN	HP:0001545	Anteriorly placed anus	-	OMIM:305600
64840	PORCN	HP:0001540	Diastasis recti	-	OMIM:305600
64840	PORCN	HP:0001540	Diastasis recti	HP:0040282	ORPHA:2092
64840	PORCN	HP:0001537	Umbilical hernia	-	OMIM:305600
64840	PORCN	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2092
64840	PORCN	HP:0001539	Omphalocele	-	OMIM:305600
64840	PORCN	HP:0001539	Omphalocele	HP:0040283	ORPHA:2092
64840	PORCN	HP:0000204	Cleft upper lip	-	OMIM:305600
64840	PORCN	HP:0030037	Bifid ureter	-	OMIM:305600
64840	PORCN	HP:0006554	Acute hepatic failure	HP:0040283	ORPHA:2092
64840	PORCN	HP:0006482	Abnormal dental morphology	HP:0040281	ORPHA:2092
64840	PORCN	HP:0000365	Hearing impairment	HP:0040281	ORPHA:2092
64840	PORCN	HP:0000370	Abnormality of the middle ear	HP:0040281	ORPHA:2092
64840	PORCN	HP:0000369	Low-set ears	HP:0040281	ORPHA:2092
64840	PORCN	HP:0000369	Low-set ears	-	OMIM:305600
64840	PORCN	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:2092
64840	PORCN	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:2092
64840	PORCN	HP:0000324	Facial asymmetry	-	OMIM:305600
64840	PORCN	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:2092
64840	PORCN	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:2092
64840	PORCN	HP:0000307	Pointed chin	1/1	OMIM:305600
64840	PORCN	HP:0000307	Pointed chin	HP:0040283	ORPHA:2092
64840	PORCN	HP:0007957	Corneal opacity	HP:0040282	ORPHA:2092
64840	PORCN	HP:0006608	Midclavicular hypoplasia	-	OMIM:305600
64840	PORCN	HP:0006638	Midclavicular aplasia	-	OMIM:305600
64840	PORCN	HP:0000402	Stenosis of the external auditory canal	-	OMIM:305600
64840	PORCN	HP:0000486	Strabismus	HP:0040282	ORPHA:2092
64840	PORCN	HP:0000486	Strabismus	-	OMIM:305600
64840	PORCN	HP:0000455	Broad nasal tip	-	OMIM:305600
64840	PORCN	HP:0001770	Toe syndactyly	-	OMIM:305600
64840	PORCN	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:2092
64840	PORCN	HP:0000446	Narrow nasal bridge	-	OMIM:305600
64840	PORCN	HP:0000446	Narrow nasal bridge	HP:0040283	ORPHA:2092
64840	PORCN	HP:0000410	Mixed hearing impairment	-	OMIM:305600
64840	PORCN	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040283	ORPHA:2092
64840	PORCN	HP:0001849	Foot oligodactyly	-	OMIM:305600
64840	PORCN	HP:0000528	Anophthalmia	-	OMIM:305600
64840	PORCN	HP:0000526	Aniridia	-	OMIM:305600
64840	PORCN	HP:0001829	Foot polydactyly	-	OMIM:305600
64840	PORCN	HP:0001839	Split foot	-	OMIM:305600
64840	PORCN	HP:0001839	Split foot	HP:0040281	ORPHA:2092
64840	PORCN	HP:0000505	Visual impairment	-	OMIM:305600
64840	PORCN	HP:0001807	Ridged nail	1/1	OMIM:305600
64840	PORCN	HP:0001802	Absent toenail	-	OMIM:305600
64840	PORCN	HP:0001817	Absent fingernail	-	OMIM:305600
64840	PORCN	HP:0000568	Microphthalmia	-	OMIM:305600
64840	PORCN	HP:0000568	Microphthalmia	HP:0040282	ORPHA:2092
64840	PORCN	HP:0000567	Chorioretinal coloboma	-	OMIM:305600
64840	PORCN	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:2092
64841	GNPNAT1	HP:0001176	Large hands	5/5	OMIM:619598
64841	GNPNAT1	HP:0009882	Short distal phalanx of finger	1/1	OMIM:619598
64841	GNPNAT1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
64841	GNPNAT1	HP:0001293	Cranial nerve compression	-	OMIM:131300
64841	GNPNAT1	HP:0001288	Gait disturbance	6/6	OMIM:619598
64841	GNPNAT1	HP:0001252	Hypotonia	2/7	OMIM:615777
64841	GNPNAT1	HP:0001249	Intellectual disability	0/6	OMIM:619598
64841	GNPNAT1	HP:0001249	Intellectual disability	5/7	OMIM:615777
64841	GNPNAT1	HP:0001263	Global developmental delay	-	OMIM:615777
64841	GNPNAT1	HP:0100864	Short femoral neck	3/3	OMIM:619598
64841	GNPNAT1	HP:0100862	Aplasia of the femoral head	1/1	OMIM:619598
64841	GNPNAT1	HP:0002515	Waddling gait	54/102	OMIM:131300
64841	GNPNAT1	HP:0001376	Limitation of joint mobility	6/6	OMIM:619598
64841	GNPNAT1	HP:0001385	Hip dysplasia	2/2	OMIM:619598
64841	GNPNAT1	HP:0001382	Joint hypermobility	-	OMIM:615777
64841	GNPNAT1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
64841	GNPNAT1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
64841	GNPNAT1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
64841	GNPNAT1	HP:0001324	Muscle weakness	40/96	OMIM:131300
64841	GNPNAT1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
64841	GNPNAT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619598
64841	GNPNAT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
64841	GNPNAT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
64841	GNPNAT1	HP:0002650	Scoliosis	1/1	OMIM:619598
64841	GNPNAT1	HP:0002650	Scoliosis	12/14	OMIM:131300
64841	GNPNAT1	HP:0002645	Wormian bones	1/1	OMIM:619598
64841	GNPNAT1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
64841	GNPNAT1	HP:0003951	Distal humeral metaphyseal irregularity	1/1	OMIM:619598
64841	GNPNAT1	HP:0003956	Bowed forearm bones	1/1	OMIM:619598
64841	GNPNAT1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
64841	GNPNAT1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
64841	GNPNAT1	HP:0008905	Rhizomelia	6/6	OMIM:619598
64841	GNPNAT1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
64841	GNPNAT1	HP:0000175	Cleft palate	2/7	OMIM:615777
64841	GNPNAT1	HP:0002007	Frontal bossing	1/6	OMIM:619598
64841	GNPNAT1	HP:0003388	Easy fatigability	36/76	OMIM:131300
64841	GNPNAT1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
64841	GNPNAT1	HP:0003593	Infantile onset	1/1	OMIM:619598
64841	GNPNAT1	HP:0003577	Congenital onset	1/1	OMIM:619598
64841	GNPNAT1	HP:0003510	Severe short stature	7/7	OMIM:615777
64841	GNPNAT1	HP:0003510	Severe short stature	6/6	OMIM:619598
64841	GNPNAT1	HP:0002315	Headache	-	OMIM:131300
64841	GNPNAT1	HP:0004976	Knee dislocation	6/7	OMIM:615777
64841	GNPNAT1	HP:0009803	Short phalanx of finger	-	OMIM:615777
64841	GNPNAT1	HP:0009763	Limb pain	63/92	OMIM:131300
64841	GNPNAT1	HP:0003621	Juvenile onset	-	OMIM:131300
64841	GNPNAT1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
64841	GNPNAT1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
64841	GNPNAT1	HP:6001056	Out-toeing	-	OMIM:131300
64841	GNPNAT1	HP:0000651	Diplopia	-	OMIM:131300
64841	GNPNAT1	HP:0001956	Truncal obesity	2/7	OMIM:615777
64841	GNPNAT1	HP:0001903	Anemia	HP:0040283	OMIM:131300
64841	GNPNAT1	HP:0010049	Short metacarpal	-	OMIM:615777
64841	GNPNAT1	HP:0000678	Dental crowding	-	OMIM:615777
64841	GNPNAT1	HP:0000670	Carious teeth	-	OMIM:131300
64841	GNPNAT1	HP:0011304	Broad thumb	2/7	OMIM:615777
64841	GNPNAT1	HP:0000668	Hypodontia	-	OMIM:615777
64841	GNPNAT1	HP:0000664	Synophrys	-	OMIM:615777
64841	GNPNAT1	HP:0004396	Poor appetite	-	OMIM:131300
64841	GNPNAT1	HP:0003037	Enlarged joints	6/6	OMIM:619598
64841	GNPNAT1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
64841	GNPNAT1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
64841	GNPNAT1	HP:0004379	Abnormality of alkaline phosphatase level	0/1	OMIM:619598
64841	GNPNAT1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
64841	GNPNAT1	HP:0003026	Short long bone	7/7	OMIM:615777
64841	GNPNAT1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
64841	GNPNAT1	HP:0000767	Pectus excavatum	1/1	OMIM:619598
64841	GNPNAT1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
64841	GNPNAT1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
64841	GNPNAT1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
64841	GNPNAT1	HP:0000750	Delayed speech and language development	-	OMIM:615777
64841	GNPNAT1	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	1/1	OMIM:619598
64841	GNPNAT1	HP:0011461	Fetal onset	7/7	OMIM:615777
64841	GNPNAT1	HP:0000774	Narrow chest	2/7	OMIM:615777
64841	GNPNAT1	HP:0000926	Platyspondyly	1/7	OMIM:615777
64841	GNPNAT1	HP:0000926	Platyspondyly	2/2	OMIM:619598
64841	GNPNAT1	HP:0003177	Squared iliac bones	1/1	OMIM:619598
64841	GNPNAT1	HP:0003180	Flat acetabular roof	1/1	OMIM:619598
64841	GNPNAT1	HP:0003180	Flat acetabular roof	-	OMIM:615777
64841	GNPNAT1	HP:0000904	Flaring of rib cage	1/1	OMIM:619598
64841	GNPNAT1	HP:0004482	Relative macrocephaly	-	OMIM:615777
64841	GNPNAT1	HP:0005792	Short humerus	2/2	OMIM:619598
64841	GNPNAT1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
64841	GNPNAT1	HP:0003097	Short femur	2/2	OMIM:619598
64841	GNPNAT1	HP:0000823	Delayed puberty	-	OMIM:131300
64841	GNPNAT1	HP:0000894	Short clavicles	-	OMIM:615777
64841	GNPNAT1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
64841	GNPNAT1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
64841	GNPNAT1	HP:0000286	Epicanthus	1/7	OMIM:615777
64841	GNPNAT1	HP:0000280	Coarse facial features	2/7	OMIM:615777
64841	GNPNAT1	HP:0005121	Posterior scalloping of vertebral bodies	1/1	OMIM:619598
64841	GNPNAT1	HP:0002827	Hip dislocation	3/7	OMIM:615777
64841	GNPNAT1	HP:0006387	Wide distal femoral metaphysis	2/2	OMIM:619598
64841	GNPNAT1	HP:0005043	Proximal humeral metaphyseal irregularity	1/1	OMIM:619598
64841	GNPNAT1	HP:0000252	Microcephaly	-	OMIM:615777
64841	GNPNAT1	HP:0002857	Genu valgum	-	OMIM:131300
64841	GNPNAT1	HP:0001538	Protuberant abdomen	1/1	OMIM:619598
64841	GNPNAT1	HP:0001533	Slender build	-	OMIM:131300
64841	GNPNAT1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
64841	GNPNAT1	HP:0007807	Optic nerve compression	-	OMIM:131300
64841	GNPNAT1	HP:0012368	Flat face	7/7	OMIM:615777
64841	GNPNAT1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
64841	GNPNAT1	HP:0002938	Lumbar hyperlordosis	1/1	OMIM:619598
64841	GNPNAT1	HP:0000365	Hearing impairment	10/67	OMIM:131300
64841	GNPNAT1	HP:0000343	Long philtrum	1/7	OMIM:615777
64841	GNPNAT1	HP:0011001	Increased bone mineral density	-	OMIM:131300
64841	GNPNAT1	HP:0000316	Hypertelorism	1/6	OMIM:619598
64841	GNPNAT1	HP:0000311	Round face	2/7	OMIM:615777
64841	GNPNAT1	HP:0002970	Genu varum	-	OMIM:615777
64841	GNPNAT1	HP:0000303	Mandibular prognathia	-	OMIM:131300
64841	GNPNAT1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
64841	GNPNAT1	HP:0000494	Downslanted palpebral fissures	1/6	OMIM:619598
64841	GNPNAT1	HP:0000470	Short neck	1/1	OMIM:619598
64841	GNPNAT1	HP:0000470	Short neck	1/7	OMIM:615777
64841	GNPNAT1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
64841	GNPNAT1	HP:0001763	Pes planus	1/7	OMIM:615777
64841	GNPNAT1	HP:0000431	Wide nasal bridge	1/6	OMIM:619598
64841	GNPNAT1	HP:0001845	Overlapping toe	1/1	OMIM:619598
64841	GNPNAT1	HP:0001840	Metatarsus adductus	-	OMIM:615777
64841	GNPNAT1	HP:0000520	Proptosis	2/4	OMIM:131300
64841	GNPNAT1	HP:0000520	Proptosis	7/7	OMIM:615777
64841	GNPNAT1	HP:0001822	Hallux valgus	1/1	OMIM:619598
64841	GNPNAT1	HP:0000508	Ptosis	1/6	OMIM:619598
64841	GNPNAT1	HP:0001833	Long foot	5/5	OMIM:619598
64841	GNPNAT1	HP:0000592	Blue sclerae	2/7	OMIM:615777
64841	GNPNAT1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
64841	GNPNAT1	HP:0012514	Lower limb pain	4/4	OMIM:131300
64849	SLC13A3	HP:0002490	Increased CSF lactate	1/2	OMIM:618384
64849	SLC13A3	HP:0001290	Generalized hypotonia	1/2	OMIM:618384
64849	SLC13A3	HP:0001272	Cerebellar atrophy	1/2	OMIM:618384
64849	SLC13A3	HP:0001251	Ataxia	2/2	OMIM:618384
64849	SLC13A3	HP:0001260	Dysarthria	2/2	OMIM:618384
64849	SLC13A3	HP:0002500	Abnormal cerebral white matter morphology	1/2	OMIM:618384
64849	SLC13A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:618384
64849	SLC13A3	HP:0001310	Dysmetria	1/2	OMIM:618384
64849	SLC13A3	HP:0034649	Elevated urine N-acetylaspartic acid level	1/2	OMIM:618384
64849	SLC13A3	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/2	OMIM:618384
64849	SLC13A3	HP:0002344	Progressive neurologic deterioration	2/2	OMIM:618384
64849	SLC13A3	HP:0002329	Drowsiness	2/2	OMIM:618384
64849	SLC13A3	HP:6000468	Elevated CSF alpha-ketoglutarate concentration	1/2	OMIM:618384
64849	SLC13A3	HP:0003621	Juvenile onset	1/2	OMIM:618384
64849	SLC13A3	HP:0011463	Childhood onset	1/2	OMIM:618384
64849	SLC13A3	HP:0033092	Increased urine succinate level	1/2	OMIM:618384
64849	SLC13A3	HP:0012229	CSF pleocytosis	1/2	OMIM:618384
64849	SLC13A3	HP:0012402	Increased urine alpha-ketoglutarate concentration	1/2	OMIM:618384
64856	VWA1	HP:0007210	Lower limb amyotrophy	10/17	OMIM:619216
64856	VWA1	HP:0001252	Hypotonia	1/17	OMIM:619216
64856	VWA1	HP:0001265	Hyporeflexia	8/16	OMIM:619216
64856	VWA1	HP:0001371	Flexion contracture	9/17	OMIM:619216
64856	VWA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619216
64856	VWA1	HP:0001308	Tongue fasciculations	2/17	OMIM:619216
64856	VWA1	HP:0008994	Proximal muscle weakness in lower limbs	13/16	OMIM:619216
64856	VWA1	HP:0008997	Proximal muscle weakness in upper limbs	10/17	OMIM:619216
64856	VWA1	HP:0008959	Distal upper limb muscle weakness	8/17	OMIM:619216
64856	VWA1	HP:0003326	Myalgia	7/17	OMIM:619216
64856	VWA1	HP:0003458	EMG: myopathic abnormalities	3/12	OMIM:619216
64856	VWA1	HP:0003401	Paresthesia	3/17	OMIM:619216
64856	VWA1	HP:0007002	Motor axonal neuropathy	15/15	OMIM:619216
64856	VWA1	HP:0003691	Scapular winging	2/17	OMIM:619216
64856	VWA1	HP:0002359	Frequent falls	6/17	OMIM:619216
64856	VWA1	HP:0010830	Impaired tactile sensation	3/15	OMIM:619216
64856	VWA1	HP:0009053	Distal lower limb muscle weakness	15/16	OMIM:619216
64856	VWA1	HP:0009027	Foot dorsiflexor weakness	9/17	OMIM:619216
64856	VWA1	HP:0011463	Childhood onset	-	OMIM:619216
64856	VWA1	HP:0001762	Talipes equinovarus	6/17	OMIM:619216
64856	VWA1	HP:0001761	Pes cavus	11/17	OMIM:619216
64857	PLEKHG2	HP:0010864	Intellectual disability, severe	-	OMIM:616763
64857	PLEKHG2	HP:0002415	Leukodystrophy	-	OMIM:616763
64857	PLEKHG2	HP:0001290	Generalized hypotonia	5/5	OMIM:616763
64857	PLEKHG2	HP:0001250	Seizure	1/4	OMIM:616763
64857	PLEKHG2	HP:0001263	Global developmental delay	5/5	OMIM:616763
64857	PLEKHG2	HP:0001332	Dystonia	3/5	OMIM:616763
64857	PLEKHG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616763
64857	PLEKHG2	HP:0003593	Infantile onset	-	OMIM:616763
64857	PLEKHG2	HP:0007204	Diffuse white matter abnormalities	-	OMIM:616763
64857	PLEKHG2	HP:0000639	Nystagmus	2/5	OMIM:616763
64857	PLEKHG2	HP:0012736	Profound global developmental delay	-	OMIM:616763
64857	PLEKHG2	HP:0000252	Microcephaly	5/5	OMIM:616763
64857	PLEKHG2	HP:0005484	Secondary microcephaly	-	OMIM:616763
64858	DCLRE1B	HP:0001272	Cerebellar atrophy	0/3	OMIM:620133
64858	DCLRE1B	HP:0010976	Decreased total B cell count	3/3	OMIM:620133
64858	DCLRE1B	HP:0000007	Autosomal recessive inheritance	-	OMIM:620133
64858	DCLRE1B	HP:0002745	Oral leukoplakia	1/3	OMIM:620133
64858	DCLRE1B	HP:0002721	Immunodeficiency	3/3	OMIM:620133
64858	DCLRE1B	HP:0002037	Inflammation of the large intestine	1/3	OMIM:620133
64858	DCLRE1B	HP:0002043	Esophageal stricture	2/3	OMIM:620133
64858	DCLRE1B	HP:0033256	Pancolitis	1/3	OMIM:620133
64858	DCLRE1B	HP:0003593	Infantile onset	1/3	OMIM:620133
64858	DCLRE1B	HP:0002209	Sparse scalp hair	1/3	OMIM:620133
64858	DCLRE1B	HP:0008404	Nail dystrophy	1/3	OMIM:620133
64858	DCLRE1B	HP:0003621	Juvenile onset	2/3	OMIM:620133
64858	DCLRE1B	HP:0005528	Bone marrow hypocellularity	3/3	OMIM:620133
64858	DCLRE1B	HP:0000601	Hypotelorism	1/3	OMIM:620133
64858	DCLRE1B	HP:0000750	Delayed speech and language development	1/3	OMIM:620133
64858	DCLRE1B	HP:0003221	Chromosomal breakage induced by crosslinking agents	0/3	OMIM:620133
64858	DCLRE1B	HP:0040218	Reduced total natural killer cell count	3/3	OMIM:620133
64858	DCLRE1B	HP:0000967	Petechiae	1/3	OMIM:620133
64858	DCLRE1B	HP:0001511	Intrauterine growth retardation	1/3	OMIM:620133
64858	DCLRE1B	HP:0001622	Premature birth	1/3	OMIM:620133
64858	DCLRE1B	HP:0001876	Pancytopenia	1/3	OMIM:620133
64859	NABP1	HP:0031035	Chronic infection	HP:0040282	ORPHA:520
64859	NABP1	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:520
64859	NABP1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:520
64859	NABP1	HP:0002653	Bone pain	HP:0040283	ORPHA:520
64859	NABP1	HP:0025420	Diffuse alveolar hemorrhage	HP:0040283	ORPHA:520
64859	NABP1	HP:0031245	Productive cough	HP:0040283	ORPHA:520
64859	NABP1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:520
64859	NABP1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:520
64859	NABP1	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:520
64859	NABP1	HP:0002039	Anorexia	HP:0040282	ORPHA:520
64859	NABP1	HP:0011900	Hypofibrinogenemia	HP:0040283	ORPHA:520
64859	NABP1	HP:0100758	Gangrene	HP:0040284	ORPHA:520
64859	NABP1	HP:0002321	Vertigo	HP:0040282	ORPHA:520
64859	NABP1	HP:0100608	Metrorrhagia	HP:0040284	ORPHA:520
64859	NABP1	HP:0005521	Disseminated intravascular coagulation	HP:0040282	ORPHA:520
64859	NABP1	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:520
64859	NABP1	HP:0001945	Fever	HP:0040282	ORPHA:520
64859	NABP1	HP:0001903	Anemia	HP:0040282	ORPHA:520
64859	NABP1	HP:0000790	Hematuria	HP:0040284	ORPHA:520
64859	NABP1	HP:0010280	Stomatitis	HP:0040283	ORPHA:520
64859	NABP1	HP:0000979	Purpura	HP:0040282	ORPHA:520
64859	NABP1	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:520
64859	NABP1	HP:0000967	Petechiae	HP:0040282	ORPHA:520
64859	NABP1	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:520
64859	NABP1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:520
64859	NABP1	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:520
64859	NABP1	HP:0031364	Ecchymosis	HP:0040282	ORPHA:520
64859	NABP1	HP:0012378	Fatigue	HP:0040282	ORPHA:520
64859	NABP1	HP:0030140	Oral cavity bleeding	HP:0040283	ORPHA:520
64859	NABP1	HP:0000421	Epistaxis	HP:0040282	ORPHA:520
64859	NABP1	HP:0001824	Weight loss	HP:0040282	ORPHA:520
64859	NABP1	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:520
64859	NABP1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:520
64859	NABP1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:520
64859	NABP1	HP:0001876	Pancytopenia	HP:0040282	ORPHA:520
64859	NABP1	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:520
64864	RFX7	HP:0100807	Long fingers	1/14	OMIM:620330
64864	RFX7	HP:0001270	Motor delay	11/13	OMIM:620330
64864	RFX7	HP:0001252	Hypotonia	5/27	OMIM:620330
64864	RFX7	HP:0001249	Intellectual disability	12/12	OMIM:620330
64864	RFX7	HP:0002591	Polyphagia	1/14	OMIM:620330
64864	RFX7	HP:0007429	Few cafe-au-lait spots	1/14	OMIM:620330
64864	RFX7	HP:0000046	Small scrotum	1/14	OMIM:620330
64864	RFX7	HP:0001382	Joint hypermobility	2/14	OMIM:620330
64864	RFX7	HP:0001347	Hyperreflexia	1/13	OMIM:620330
64864	RFX7	HP:0001332	Dystonia	1/13	OMIM:620330
64864	RFX7	HP:0000006	Autosomal dominant inheritance	-	OMIM:620330
64864	RFX7	HP:0001320	Cerebellar vermis hypoplasia	1/11	OMIM:620330
64864	RFX7	HP:0012170	Nail-biting	1/11	OMIM:620330
64864	RFX7	HP:0000193	Bifid uvula	1/14	OMIM:620330
64864	RFX7	HP:0012167	Hair-pulling	2/11	OMIM:620330
64864	RFX7	HP:0000126	Hydronephrosis	1/14	OMIM:620330
64864	RFX7	HP:0002019	Constipation	1/14	OMIM:620330
64864	RFX7	HP:0002007	Frontal bossing	2/14	OMIM:620330
64864	RFX7	HP:0002099	Asthma	1/14	OMIM:620330
64864	RFX7	HP:0002069	Bilateral tonic-clonic seizure	1/12	OMIM:620330
64864	RFX7	HP:0002121	Generalized non-motor (absence) seizure	1/12	OMIM:620330
64864	RFX7	HP:0002136	Broad-based gait	1/14	OMIM:620330
64864	RFX7	HP:0002188	Delayed CNS myelination	1/11	OMIM:620330
64864	RFX7	HP:0003593	Infantile onset	-	OMIM:620330
64864	RFX7	HP:0100716	Self-injurious behavior	1/11	OMIM:620330
64864	RFX7	HP:0007021	Pain insensitivity	2/11	OMIM:620330
64864	RFX7	HP:0007018	Attention deficit hyperactivity disorder	4/11	OMIM:620330
64864	RFX7	HP:0002360	Sleep abnormality	4/12	OMIM:620330
64864	RFX7	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/12	OMIM:620330
64864	RFX7	HP:4000079	Sensory seeking	2/11	OMIM:620330
64864	RFX7	HP:4000070	Fixated interests	1/11	OMIM:620330
64864	RFX7	HP:0000639	Nystagmus	1/14	OMIM:620330
64864	RFX7	HP:0000637	Long palpebral fissure	1/14	OMIM:620330
64864	RFX7	HP:0000609	Optic nerve hypoplasia	1/14	OMIM:620330
64864	RFX7	HP:0011327	Posterior plagiocephaly	1/14	OMIM:620330
64864	RFX7	HP:0012725	Cutaneous syndactyly	1/14	OMIM:620330
64864	RFX7	HP:0000739	Anxiety	3/11	OMIM:620330
64864	RFX7	HP:0000733	Motor stereotypy	1/11	OMIM:620330
64864	RFX7	HP:0000750	Delayed speech and language development	14/14	OMIM:620330
64864	RFX7	HP:0000718	Aggressive behavior	3/11	OMIM:620330
64864	RFX7	HP:0000712	Emotional lability	1/11	OMIM:620330
64864	RFX7	HP:0000729	Autistic behavior	5/12	OMIM:620330
64864	RFX7	HP:0030799	Scaphocephaly	1/14	OMIM:620330
64864	RFX7	HP:0003196	Short nose	1/14	OMIM:620330
64864	RFX7	HP:0000964	Eczematoid dermatitis	1/14	OMIM:620330
64864	RFX7	HP:0045025	Narrow palpebral fissure	1/14	OMIM:620330
64864	RFX7	HP:0000286	Epicanthus	2/14	OMIM:620330
64864	RFX7	HP:0000256	Macrocephaly	3/11	OMIM:620330
64864	RFX7	HP:0000275	Narrow face	1/14	OMIM:620330
64864	RFX7	HP:0000272	Malar flattening	1/14	OMIM:620330
64864	RFX7	HP:0000268	Dolichocephaly	1/14	OMIM:620330
64864	RFX7	HP:0000252	Microcephaly	4/11	OMIM:620330
64864	RFX7	HP:0000248	Brachycephaly	1/14	OMIM:620330
64864	RFX7	HP:0000219	Thin upper lip vermilion	1/14	OMIM:620330
64864	RFX7	HP:0000218	High palate	3/14	OMIM:620330
64864	RFX7	HP:0001537	Umbilical hernia	1/14	OMIM:620330
64864	RFX7	HP:0002837	Recurrent bronchitis	1/14	OMIM:620330
64864	RFX7	HP:0006532	Recurrent pneumonia	1/14	OMIM:620330
64864	RFX7	HP:0001601	Laryngomalacia	1/14	OMIM:620330
64864	RFX7	HP:0002901	Hypocalcemia	1/14	OMIM:620330
64864	RFX7	HP:0000358	Posteriorly rotated ears	1/14	OMIM:620330
64864	RFX7	HP:0000343	Long philtrum	1/14	OMIM:620330
64864	RFX7	HP:0032794	Myoclonic seizure	1/12	OMIM:620330
64864	RFX7	HP:0000324	Facial asymmetry	1/14	OMIM:620330
64864	RFX7	HP:0001629	Ventricular septal defect	1/14	OMIM:620330
64864	RFX7	HP:0000303	Mandibular prognathia	1/14	OMIM:620330
64864	RFX7	HP:0005274	Prominent nasal tip	1/14	OMIM:620330
64864	RFX7	HP:0000455	Broad nasal tip	1/14	OMIM:620330
64864	RFX7	HP:0000470	Short neck	1/14	OMIM:620330
64864	RFX7	HP:0000411	Protruding ear	1/14	OMIM:620330
64864	RFX7	HP:0000431	Wide nasal bridge	1/14	OMIM:620330
64864	RFX7	HP:0001852	Sandal gap	1/14	OMIM:620330
64864	RFX7	HP:0000506	Telecanthus	2/14	OMIM:620330
64864	RFX7	HP:0000582	Upslanted palpebral fissure	1/14	OMIM:620330
64864	RFX7	HP:0001863	Toe clinodactyly	1/14	OMIM:620330
64902	AGXT2	HP:0032480	Beta-aminoisobutyric aciduria	-	OMIM:210100
64902	AGXT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:210100
64919	BCL11B	HP:0003765	Psoriasiform dermatitis	1/1	OMIM:617237
64919	BCL11B	HP:0001290	Generalized hypotonia	-	OMIM:617237
64919	BCL11B	HP:0001274	Agenesis of corpus callosum	1/1	OMIM:617237
64919	BCL11B	HP:0001270	Motor delay	11/12	OMIM:618092
64919	BCL11B	HP:0001250	Seizure	1/1	OMIM:617237
64919	BCL11B	HP:0001252	Hypotonia	1/1	OMIM:617237
64919	BCL11B	HP:0001252	Hypotonia	4/12	OMIM:618092
64919	BCL11B	HP:0001249	Intellectual disability	1/1	OMIM:617237
64919	BCL11B	HP:0001249	Intellectual disability	12/12	OMIM:618092
64919	BCL11B	HP:0001263	Global developmental delay	-	OMIM:617237
64919	BCL11B	HP:0001263	Global developmental delay	-	OMIM:618092
64919	BCL11B	HP:0001257	Spasticity	1/12	OMIM:618092
64919	BCL11B	HP:0410378	Decreased naive CD4-positive T cell proportion	1/1	OMIM:617237
64919	BCL11B	HP:0002510	Spastic tetraplegia	1/1	OMIM:617237
64919	BCL11B	HP:0001344	Absent speech	-	OMIM:617237
64919	BCL11B	HP:0000006	Autosomal dominant inheritance	-	OMIM:618092
64919	BCL11B	HP:0000006	Autosomal dominant inheritance	-	OMIM:617237
64919	BCL11B	HP:0002645	Wormian bones	-	OMIM:617237
64919	BCL11B	HP:0000160	Narrow mouth	2/12	OMIM:618092
64919	BCL11B	HP:0002719	Recurrent infections	4/12	OMIM:618092
64919	BCL11B	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	1/1	OMIM:617237
64919	BCL11B	HP:0002099	Asthma	7/12	OMIM:618092
64919	BCL11B	HP:0002058	Myopathic facies	-	OMIM:617237
64919	BCL11B	HP:0002058	Myopathic facies	6/12	OMIM:618092
64919	BCL11B	HP:0003593	Infantile onset	12/12	OMIM:618092
64919	BCL11B	HP:0003577	Congenital onset	1/1	OMIM:617237
64919	BCL11B	HP:0011968	Feeding difficulties	3/12	OMIM:618092
64919	BCL11B	HP:0001007	Hirsutism	-	OMIM:617237
64919	BCL11B	HP:0002317	Unsteady gait	1/12	OMIM:618092
64919	BCL11B	HP:0000677	Oligodontia	5/12	OMIM:618092
64919	BCL11B	HP:0000695	Natal tooth	1/1	OMIM:617237
64919	BCL11B	HP:0000691	Microdontia	5/12	OMIM:618092
64919	BCL11B	HP:0000668	Hypodontia	-	OMIM:618092
64919	BCL11B	HP:0031936	Delayed ability to walk	-	OMIM:618092
64919	BCL11B	HP:0012745	Short palpebral fissure	7/12	OMIM:618092
64919	BCL11B	HP:0012745	Short palpebral fissure	-	OMIM:617237
64919	BCL11B	HP:0000739	Anxiety	2/12	OMIM:618092
64919	BCL11B	HP:0000750	Delayed speech and language development	12/12	OMIM:618092
64919	BCL11B	HP:0000729	Autistic behavior	4/12	OMIM:618092
64919	BCL11B	HP:0004415	Pulmonary artery stenosis	1/1	OMIM:617237
64919	BCL11B	HP:0004430	Severe combined immunodeficiency	1/1	OMIM:617237
64919	BCL11B	HP:0034295	Reduced cerebral white matter volume	1/1	OMIM:617237
64919	BCL11B	HP:0045074	Thin eyebrow	5/12	OMIM:618092
64919	BCL11B	HP:0000973	Cutis laxa	-	OMIM:617237
64919	BCL11B	HP:0000286	Epicanthus	1/12	OMIM:618092
64919	BCL11B	HP:0000219	Thin upper lip vermilion	11/12	OMIM:618092
64919	BCL11B	HP:0001537	Umbilical hernia	1/1	OMIM:617237
64919	BCL11B	HP:0000358	Posteriorly rotated ears	-	OMIM:617237
64919	BCL11B	HP:0000343	Long philtrum	9/12	OMIM:618092
64919	BCL11B	HP:0000347	Micrognathia	-	OMIM:617237
64919	BCL11B	HP:0000316	Hypertelorism	-	OMIM:617237
64919	BCL11B	HP:0000316	Hypertelorism	7/12	OMIM:618092
64919	BCL11B	HP:0000322	Short philtrum	-	OMIM:617237
64919	BCL11B	HP:0031545	Abnormally low T cell receptor excision circle level	1/12	OMIM:618092
64919	BCL11B	HP:0031545	Abnormally low T cell receptor excision circle level	1/1	OMIM:617237
64919	BCL11B	HP:0000448	Prominent nose	9/12	OMIM:618092
64919	BCL11B	HP:0005403	Decreased total T cell count	1/1	OMIM:617237
64919	BCL11B	HP:0000582	Upslanted palpebral fissure	-	OMIM:617237
64919	BCL11B	HP:0001888	Decreased total lymphocyte count	-	OMIM:617237
64919	BCL11B	HP:0000540	Hypermetropia	2/12	OMIM:618092
64919	BCL11B	HP:0001880	Increased total eosinophil count	-	OMIM:617237
64919	BCL11B	HP:0001880	Increased total eosinophil count	4/10	OMIM:618092
64919	BCL11B	HP:0000545	Myopia	2/12	OMIM:618092
65018	PINK1	HP:0025269	Panic attack	HP:0040283	ORPHA:2828
65018	PINK1	HP:0002578	Gastroparesis	HP:0040283	ORPHA:2828
65018	PINK1	HP:0001257	Spasticity	HP:0040283	ORPHA:2828
65018	PINK1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2828
65018	PINK1	HP:0001347	Hyperreflexia	-	OMIM:605909
65018	PINK1	HP:0001332	Dystonia	HP:0040283	ORPHA:2828
65018	PINK1	HP:0001332	Dystonia	-	OMIM:605909
65018	PINK1	HP:0000012	Urinary urgency	-	OMIM:605909
65018	PINK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:605909
65018	PINK1	HP:0001337	Tremor	HP:0040282	ORPHA:2828
65018	PINK1	HP:0001300	Parkinsonism	-	OMIM:605909
65018	PINK1	HP:0002018	Nausea	HP:0040283	ORPHA:2828
65018	PINK1	HP:0002019	Constipation	HP:0040283	ORPHA:2828
65018	PINK1	HP:0040307	Male sexual dysfunction	HP:0040283	ORPHA:2828
65018	PINK1	HP:0002014	Diarrhea	HP:0040283	ORPHA:2828
65018	PINK1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2828
65018	PINK1	HP:0002067	Bradykinesia	HP:0040283	ORPHA:2828
65018	PINK1	HP:0002067	Bradykinesia	-	OMIM:605909
65018	PINK1	HP:0003394	Muscle spasm	HP:0040283	ORPHA:2828
65018	PINK1	HP:0002063	Rigidity	HP:0040281	ORPHA:2828
65018	PINK1	HP:0002063	Rigidity	-	OMIM:605909
65018	PINK1	HP:0002141	Gait imbalance	HP:0040283	ORPHA:2828
65018	PINK1	HP:0002172	Postural instability	HP:0040282	ORPHA:2828
65018	PINK1	HP:0002172	Postural instability	-	OMIM:605909
65018	PINK1	HP:0003593	Infantile onset	-	OMIM:605909
65018	PINK1	HP:0100710	Impulsivity	HP:0040284	ORPHA:2828
65018	PINK1	HP:0100785	Insomnia	HP:0040283	ORPHA:2828
65018	PINK1	HP:0003677	Slowly progressive	-	OMIM:605909
65018	PINK1	HP:0002322	Resting tremor	-	OMIM:605909
65018	PINK1	HP:0100660	Dyskinesia	HP:0040282	ORPHA:2828
65018	PINK1	HP:0000651	Diplopia	HP:0040284	ORPHA:2828
65018	PINK1	HP:0000738	Hallucinations	HP:0040282	ORPHA:2828
65018	PINK1	HP:0000739	Anxiety	HP:0040283	ORPHA:2828
65018	PINK1	HP:0000739	Anxiety	-	OMIM:605909
65018	PINK1	HP:0000736	Short attention span	HP:0040283	ORPHA:2828
65018	PINK1	HP:0000741	Apathy	HP:0040282	ORPHA:2828
65018	PINK1	HP:0000716	Depression	HP:0040282	ORPHA:2828
65018	PINK1	HP:0000716	Depression	-	OMIM:605909
65018	PINK1	HP:0000713	Agitation	HP:0040284	ORPHA:2828
65018	PINK1	HP:0000727	Frontal lobe dementia	HP:0040284	ORPHA:2828
65018	PINK1	HP:0000726	Dementia	HP:0040283	ORPHA:2828
65018	PINK1	HP:0000726	Dementia	-	OMIM:605909
65018	PINK1	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:2828
65018	PINK1	HP:0004409	Hyposmia	HP:0040283	ORPHA:2828
65018	PINK1	HP:0030014	Female sexual dysfunction	HP:0040283	ORPHA:2828
65018	PINK1	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:2828
65018	PINK1	HP:0012452	Restless legs	HP:0040283	ORPHA:2828
65018	PINK1	HP:0000551	Color vision defect	HP:0040283	ORPHA:2828
65055	REEP1	HP:0002483	Bulbar signs	HP:0040283	ORPHA:101011
65055	REEP1	HP:0002495	Impaired vibratory sensation	HP:0040282	ORPHA:139536
65055	REEP1	HP:0002460	Distal muscle weakness	2/2	OMIM:620011
65055	REEP1	HP:0001276	Hypertonia	HP:0040282	ORPHA:101011
65055	REEP1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:101011
65055	REEP1	HP:0001285	Spastic tetraparesis	HP:0040283	ORPHA:101011
65055	REEP1	HP:0001252	Hypotonia	1/1	OMIM:620011
65055	REEP1	HP:0001265	Hyporeflexia	1/1	OMIM:620011
65055	REEP1	HP:0001260	Dysarthria	HP:0040283	ORPHA:101011
65055	REEP1	HP:0001260	Dysarthria	-	OMIM:610250
65055	REEP1	HP:0001263	Global developmental delay	1/1	OMIM:620011
65055	REEP1	HP:0001258	Spastic paraplegia	-	OMIM:610250
65055	REEP1	HP:0033685	Fiber type grouping	1/1	OMIM:620011
65055	REEP1	HP:0007350	Upper limb hyperreflexia	HP:0040282	ORPHA:101011
65055	REEP1	HP:0007340	Lower limb muscle weakness	6/6	OMIM:610250
65055	REEP1	HP:0001348	Brisk reflexes	HP:0040281	ORPHA:101011
65055	REEP1	HP:0001347	Hyperreflexia	-	OMIM:610250
65055	REEP1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:139536
65055	REEP1	HP:0031189	Wrist drop	1/1	OMIM:620011
65055	REEP1	HP:0000012	Urinary urgency	HP:0040283	OMIM:610250
65055	REEP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620011
65055	REEP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614751
65055	REEP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:610250
65055	REEP1	HP:0012179	Craniofacial dystonia	1/1	OMIM:620011
65055	REEP1	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040281	ORPHA:101011
65055	REEP1	HP:0008956	Proximal lower limb amyotrophy	HP:0040282	ORPHA:101011
65055	REEP1	HP:0002015	Dysphagia	HP:0040283	ORPHA:101011
65055	REEP1	HP:0002015	Dysphagia	HP:0040283	OMIM:610250
65055	REEP1	HP:0011808	Decreased patellar reflex	1/4	OMIM:614751
65055	REEP1	HP:0002098	Respiratory distress	1/1	OMIM:620011
65055	REEP1	HP:0002064	Spastic gait	HP:0040281	ORPHA:101011
65055	REEP1	HP:0002064	Spastic gait	6/6	OMIM:610250
65055	REEP1	HP:0003392	First dorsal interossei muscle weakness	HP:0040282	ORPHA:139536
65055	REEP1	HP:0002061	Lower limb spasticity	-	OMIM:610250
65055	REEP1	HP:0003393	Thenar muscle atrophy	HP:0040282	ORPHA:139536
65055	REEP1	HP:0003393	Thenar muscle atrophy	4/4	OMIM:614751
65055	REEP1	HP:0008112	Plantar flexion contracture	1/1	OMIM:620011
65055	REEP1	HP:0011727	Peroneal muscle weakness	3/4	OMIM:614751
65055	REEP1	HP:0003477	Peripheral axonal neuropathy	1/1	OMIM:620011
65055	REEP1	HP:0003487	Babinski sign	6/6	OMIM:610250
65055	REEP1	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:139536
65055	REEP1	HP:0003431	Decreased motor nerve conduction velocity	3/3	OMIM:614751
65055	REEP1	HP:0003426	First dorsal interossei muscle atrophy	HP:0040282	ORPHA:139536
65055	REEP1	HP:0003427	Thenar muscle weakness	HP:0040282	ORPHA:139536
65055	REEP1	HP:0003438	Absent Achilles reflex	4/4	OMIM:614751
65055	REEP1	HP:0003438	Absent Achilles reflex	1/1	OMIM:620011
65055	REEP1	HP:0003435	Cold-induced hand cramps	HP:0040282	ORPHA:139536
65055	REEP1	HP:0003596	Middle age onset	1/6	OMIM:610250
65055	REEP1	HP:0003577	Congenital onset	3/3	OMIM:620011
65055	REEP1	HP:0011948	Recurrent acute respiratory tract infection	1/1	OMIM:620011
65055	REEP1	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:101011
65055	REEP1	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:139536
65055	REEP1	HP:0003693	Distal amyotrophy	1/6	OMIM:610250
65055	REEP1	HP:0002359	Frequent falls	1/1	OMIM:620011
65055	REEP1	HP:0002376	Developmental regression	1/1	OMIM:620011
65055	REEP1	HP:0002317	Unsteady gait	HP:0040282	ORPHA:139536
65055	REEP1	HP:0010831	Impaired proprioception	HP:0040282	ORPHA:101011
65055	REEP1	HP:0009830	Peripheral neuropathy	1/1	OMIM:620011
65055	REEP1	HP:0003621	Juvenile onset	2/3	OMIM:614751
65055	REEP1	HP:0003621	Juvenile onset	2/6	OMIM:610250
65055	REEP1	HP:0007178	Motor polyneuropathy	HP:0040282	ORPHA:139536
65055	REEP1	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:139536
65055	REEP1	HP:0009046	Difficulty running	HP:0040282	ORPHA:101011
65055	REEP1	HP:0009049	Peroneal muscle atrophy	3/4	OMIM:614751
65055	REEP1	HP:0009027	Foot dorsiflexor weakness	1/1	OMIM:620011
65055	REEP1	HP:0005612	Arthrogryposis-like hand anomaly	1/1	OMIM:620011
65055	REEP1	HP:0005684	Distal arthrogryposis	1/1	OMIM:620011
65055	REEP1	HP:0011463	Childhood onset	2/6	OMIM:610250
65055	REEP1	HP:0011462	Young adult onset	1/6	OMIM:610250
65055	REEP1	HP:0011448	Ankle clonus	3/6	OMIM:610250
65055	REEP1	HP:0009110	Diaphragmatic eventration	1/1	OMIM:620011
65055	REEP1	HP:0040078	Axonal degeneration	2/2	OMIM:620011
65055	REEP1	HP:0003202	Skeletal muscle atrophy	2/2	OMIM:620011
65055	REEP1	HP:0003202	Skeletal muscle atrophy	-	OMIM:610250
65055	REEP1	HP:0040131	Abnormal motor nerve conduction velocity	HP:0040284	ORPHA:139536
65055	REEP1	HP:0008081	Pes valgus	HP:0040283	ORPHA:139536
65055	REEP1	HP:0000218	High palate	1/1	OMIM:620011
65055	REEP1	HP:0030207	Paradoxical respiration	1/1	OMIM:620011
65055	REEP1	HP:0006597	Diaphragmatic paralysis	1/1	OMIM:620011
65055	REEP1	HP:0002936	Distal sensory impairment	HP:0040282	ORPHA:101011
65055	REEP1	HP:0002936	Distal sensory impairment	1/6	OMIM:610250
65055	REEP1	HP:0030237	Hand muscle weakness	HP:0040283	ORPHA:101011
65055	REEP1	HP:0001765	Hammertoe	HP:0040283	ORPHA:139536
65055	REEP1	HP:0001762	Talipes equinovarus	1/1	OMIM:620011
65055	REEP1	HP:0001761	Pes cavus	HP:0040282	ORPHA:101011
65055	REEP1	HP:0001761	Pes cavus	HP:0040283	OMIM:610250
65055	REEP1	HP:0001761	Pes cavus	4/4	OMIM:614751
65055	REEP1	HP:0001761	Pes cavus	HP:0040283	ORPHA:139536
65055	REEP1	HP:0025708	Early young adult onset	1/3	OMIM:614751
65057	ACD	HP:0003764	Nevus	HP:0040281	ORPHA:618
65057	ACD	HP:0001276	Hypertonia	HP:0040282	ORPHA:3322
65057	ACD	HP:0001251	Ataxia	HP:0040283	ORPHA:3322
65057	ACD	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3322
65057	ACD	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:3322
65057	ACD	HP:0001263	Global developmental delay	-	OMIM:616553
65057	ACD	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3322
65057	ACD	HP:0007440	Generalized hyperpigmentation	HP:0040282	ORPHA:3322
65057	ACD	HP:0007392	Excessive wrinkled skin	HP:0040282	ORPHA:3322
65057	ACD	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:3322
65057	ACD	HP:0002664	Neoplasm	HP:0040283	ORPHA:3322
65057	ACD	HP:0000007	Autosomal recessive inheritance	-	OMIM:616553
65057	ACD	HP:0000006	Autosomal dominant inheritance	-	OMIM:616553
65057	ACD	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:3322
65057	ACD	HP:0001321	Cerebellar hypoplasia	-	OMIM:616553
65057	ACD	HP:0000164	Abnormality of the dentition	HP:0040283	OMIM:616553
65057	ACD	HP:0001480	Freckling	HP:0040282	ORPHA:618
65057	ACD	HP:0002745	Oral leukoplakia	HP:0040282	ORPHA:3322
65057	ACD	HP:0002745	Oral leukoplakia	-	OMIM:616553
65057	ACD	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:3322
65057	ACD	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:618
65057	ACD	HP:0010450	Esophageal stenosis	-	OMIM:616553
65057	ACD	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:3322
65057	ACD	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:3322
65057	ACD	HP:0003581	Adult onset	3/3	OMIM:616553
65057	ACD	HP:0002216	Premature graying of hair	HP:0040282	ORPHA:3322
65057	ACD	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:3322
65057	ACD	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:618
65057	ACD	HP:0008404	Nail dystrophy	HP:0040282	ORPHA:3322
65057	ACD	HP:0008404	Nail dystrophy	-	OMIM:616553
65057	ACD	HP:0005528	Bone marrow hypocellularity	HP:0040283	ORPHA:3322
65057	ACD	HP:0005528	Bone marrow hypocellularity	2/3	OMIM:616553
65057	ACD	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:3322
65057	ACD	HP:0001903	Anemia	HP:0040282	ORPHA:3322
65057	ACD	HP:0001915	Aplastic anemia	2/3	OMIM:616553
65057	ACD	HP:0011358	Generalized hypopigmentation of hair	HP:0040282	ORPHA:3322
65057	ACD	HP:0004322	Short stature	HP:0040281	ORPHA:3322
65057	ACD	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:3322
65057	ACD	HP:0100013	Neoplasm of the breast	HP:0040283	ORPHA:618
65057	ACD	HP:0000958	Dry skin	HP:0040282	ORPHA:618
65057	ACD	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:618
65057	ACD	HP:0031413	Short telomere length	3/3	OMIM:616553
65057	ACD	HP:0000252	Microcephaly	-	OMIM:616553
65057	ACD	HP:0000252	Microcephaly	HP:0040281	ORPHA:3322
65057	ACD	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:618
65057	ACD	HP:0002861	Melanoma	HP:0040281	ORPHA:618
65057	ACD	HP:0001508	Failure to thrive	HP:0040281	ORPHA:3322
65057	ACD	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3322
65057	ACD	HP:0001511	Intrauterine growth retardation	-	OMIM:616553
65057	ACD	HP:0000488	Retinopathy	HP:0040283	ORPHA:618
65057	ACD	HP:0006753	Neoplasm of the stomach	HP:0040283	ORPHA:618
65057	ACD	HP:0001881	Abnormal leukocyte morphology	HP:0040283	ORPHA:3322
65057	ACD	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:3322
65057	ACD	HP:0001876	Pancytopenia	-	OMIM:616553
65062	TMEM237	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:564
65062	TMEM237	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:564
65062	TMEM237	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
65062	TMEM237	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2318
65062	TMEM237	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
65062	TMEM237	HP:0002435	Meningocele	1/19	OMIM:614424
65062	TMEM237	HP:0010864	Intellectual disability, severe	-	OMIM:614424
65062	TMEM237	HP:0002419	Molar tooth sign on MRI	9/19	OMIM:614424
65062	TMEM237	HP:0002419	Molar tooth sign on MRI	HP:0040281	ORPHA:220497
65062	TMEM237	HP:0002419	Molar tooth sign on MRI	HP:0040281	ORPHA:2318
65062	TMEM237	HP:0001290	Generalized hypotonia	-	OMIM:614424
65062	TMEM237	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0001288	Gait disturbance	HP:0040282	ORPHA:220497
65062	TMEM237	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
65062	TMEM237	HP:0001250	Seizure	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0001250	Seizure	HP:0040283	ORPHA:2318
65062	TMEM237	HP:0001250	Seizure	HP:0040283	ORPHA:475
65062	TMEM237	HP:0001252	Hypotonia	HP:0040281	ORPHA:220497
65062	TMEM237	HP:0001252	Hypotonia	HP:0040281	ORPHA:2318
65062	TMEM237	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
65062	TMEM237	HP:0001252	Hypotonia	-	OMIM:614424
65062	TMEM237	HP:0001251	Ataxia	HP:0040281	ORPHA:220497
65062	TMEM237	HP:0001251	Ataxia	HP:0040281	ORPHA:2318
65062	TMEM237	HP:0001251	Ataxia	HP:0040281	ORPHA:475
65062	TMEM237	HP:0001251	Ataxia	-	OMIM:614424
65062	TMEM237	HP:0001249	Intellectual disability	HP:0040281	ORPHA:220497
65062	TMEM237	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2318
65062	TMEM237	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
65062	TMEM237	HP:0001263	Global developmental delay	HP:0040281	ORPHA:220497
65062	TMEM237	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2318
65062	TMEM237	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
65062	TMEM237	HP:0001263	Global developmental delay	-	OMIM:614424
65062	TMEM237	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
65062	TMEM237	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2318
65062	TMEM237	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:564
65062	TMEM237	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
65062	TMEM237	HP:0002553	Highly arched eyebrow	-	OMIM:614424
65062	TMEM237	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:2318
65062	TMEM237	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:2318
65062	TMEM237	HP:0000068	Urethral atresia	HP:0040283	ORPHA:564
65062	TMEM237	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:564
65062	TMEM237	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:564
65062	TMEM237	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:564
65062	TMEM237	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:564
65062	TMEM237	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
65062	TMEM237	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
65062	TMEM237	HP:0000007	Autosomal recessive inheritance	-	OMIM:614424
65062	TMEM237	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:564
65062	TMEM237	HP:0001337	Tremor	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0001337	Tremor	HP:0040283	ORPHA:475
65062	TMEM237	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
65062	TMEM237	HP:0001305	Dandy-Walker malformation	4/19	OMIM:614424
65062	TMEM237	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:564
65062	TMEM237	HP:0001320	Cerebellar vermis hypoplasia	2/19	OMIM:614424
65062	TMEM237	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:220497
65062	TMEM237	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:2318
65062	TMEM237	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
65062	TMEM237	HP:0002650	Scoliosis	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0002650	Scoliosis	HP:0040283	ORPHA:2318
65062	TMEM237	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
65062	TMEM237	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:564
65062	TMEM237	HP:0000194	Open mouth	-	OMIM:614424
65062	TMEM237	HP:0000175	Cleft palate	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0000175	Cleft palate	HP:0040282	ORPHA:564
65062	TMEM237	HP:0000175	Cleft palate	1/19	OMIM:614424
65062	TMEM237	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
65062	TMEM237	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
65062	TMEM237	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
65062	TMEM237	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:220497
65062	TMEM237	HP:0002789	Tachypnea	HP:0040281	ORPHA:2318
65062	TMEM237	HP:0000112	Nephropathy	HP:0040281	ORPHA:220497
65062	TMEM237	HP:0000112	Nephropathy	HP:0040281	ORPHA:2318
65062	TMEM237	HP:0000107	Renal cyst	15/18	OMIM:614424
65062	TMEM237	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
65062	TMEM237	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
65062	TMEM237	HP:0002084	Encephalocele	7/19	OMIM:614424
65062	TMEM237	HP:0002084	Encephalocele	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0002084	Encephalocele	HP:0040283	ORPHA:2318
65062	TMEM237	HP:0002084	Encephalocele	HP:0040281	ORPHA:564
65062	TMEM237	HP:0002079	Hypoplasia of the corpus callosum	1/19	OMIM:614424
65062	TMEM237	HP:0010459	True hermaphroditism	HP:0040283	ORPHA:564
65062	TMEM237	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
65062	TMEM237	HP:0002104	Apnea	HP:0040281	ORPHA:220497
65062	TMEM237	HP:0002104	Apnea	HP:0040281	ORPHA:2318
65062	TMEM237	HP:0002104	Apnea	HP:0040281	ORPHA:475
65062	TMEM237	HP:0002170	Intracranial hemorrhage	1/19	OMIM:614424
65062	TMEM237	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
65062	TMEM237	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:2318
65062	TMEM237	HP:0100704	Cerebral visual impairment	2/19	OMIM:614424
65062	TMEM237	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:2318
65062	TMEM237	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
65062	TMEM237	HP:0100732	Pancreatic fibrosis	HP:0040283	ORPHA:564
65062	TMEM237	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:220497
65062	TMEM237	HP:0002365	Hypoplasia of the brainstem	1/19	OMIM:614424
65062	TMEM237	HP:0002335	Agenesis of cerebellar vermis	3/19	OMIM:614424
65062	TMEM237	HP:0002323	Anencephaly	HP:0040283	ORPHA:564
65062	TMEM237	HP:0010804	Tented upper lip vermilion	-	OMIM:614424
65062	TMEM237	HP:0003621	Juvenile onset	8/19	OMIM:180100
65062	TMEM237	HP:0006870	Lobar holoprosencephaly	HP:0040282	ORPHA:564
65062	TMEM237	HP:0000639	Nystagmus	HP:0040282	ORPHA:220497
65062	TMEM237	HP:0000639	Nystagmus	HP:0040282	ORPHA:2318
65062	TMEM237	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
65062	TMEM237	HP:0000639	Nystagmus	12/14	OMIM:614424
65062	TMEM237	HP:0000648	Optic atrophy	HP:0040282	ORPHA:564
65062	TMEM237	HP:0000648	Optic atrophy	1/14	OMIM:614424
65062	TMEM237	HP:0000647	Sclerocornea	HP:0040282	ORPHA:564
65062	TMEM237	HP:0000618	Blindness	HP:0040282	ORPHA:2318
65062	TMEM237	HP:0000612	Iris coloboma	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0000612	Iris coloboma	HP:0040282	ORPHA:2318
65062	TMEM237	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
65062	TMEM237	HP:0000662	Nyctalopia	26/28	OMIM:180100
65062	TMEM237	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:220497
65062	TMEM237	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
65062	TMEM237	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
65062	TMEM237	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2318
65062	TMEM237	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:564
65062	TMEM237	HP:0000737	Irritability	-	OMIM:614424
65062	TMEM237	HP:0000729	Autistic behavior	HP:0040282	ORPHA:2318
65062	TMEM237	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2318
65062	TMEM237	HP:0011463	Childhood onset	3/19	OMIM:180100
65062	TMEM237	HP:0011462	Young adult onset	8/19	OMIM:180100
65062	TMEM237	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
65062	TMEM237	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2318
65062	TMEM237	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:220497
65062	TMEM237	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
65062	TMEM237	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:2318
65062	TMEM237	HP:0000822	Hypertension	HP:0040282	OMIM:614424
65062	TMEM237	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:564
65062	TMEM237	HP:0100259	Postaxial polydactyly	1/19	OMIM:614424
65062	TMEM237	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040282	ORPHA:564
65062	TMEM237	HP:0000286	Epicanthus	-	OMIM:614424
65062	TMEM237	HP:0000293	Full cheeks	HP:0040282	ORPHA:564
65062	TMEM237	HP:0000276	Long face	HP:0040282	ORPHA:220497
65062	TMEM237	HP:0000276	Long face	HP:0040282	ORPHA:475
65062	TMEM237	HP:0000276	Long face	HP:0040282	ORPHA:2318
65062	TMEM237	HP:0000272	Malar flattening	-	OMIM:614424
65062	TMEM237	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
65062	TMEM237	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
65062	TMEM237	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:564
65062	TMEM237	HP:0000238	Hydrocephalus	10/19	OMIM:614424
65062	TMEM237	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2318
65062	TMEM237	HP:0000252	Microcephaly	HP:0040281	ORPHA:564
65062	TMEM237	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:564
65062	TMEM237	HP:0025514	Morning glory anomaly	3/14	OMIM:614424
65062	TMEM237	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
65062	TMEM237	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:564
65062	TMEM237	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
65062	TMEM237	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0001510	Growth delay	-	OMIM:614424
65062	TMEM237	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
65062	TMEM237	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:564
65062	TMEM237	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
65062	TMEM237	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:564
65062	TMEM237	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:220497
65062	TMEM237	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:564
65062	TMEM237	HP:0000358	Posteriorly rotated ears	-	OMIM:614424
65062	TMEM237	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2318
65062	TMEM237	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
65062	TMEM237	HP:0000369	Low-set ears	-	OMIM:614424
65062	TMEM237	HP:0000340	Sloping forehead	HP:0040282	ORPHA:564
65062	TMEM237	HP:0000348	High forehead	-	OMIM:614424
65062	TMEM237	HP:0000347	Micrognathia	HP:0040282	ORPHA:564
65062	TMEM237	HP:0000316	Hypertelorism	HP:0040282	ORPHA:564
65062	TMEM237	HP:0000316	Hypertelorism	-	OMIM:614424
65062	TMEM237	HP:0000322	Short philtrum	-	OMIM:614424
65062	TMEM237	HP:0001629	Ventricular septal defect	1/19	OMIM:614424
65062	TMEM237	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:564
65062	TMEM237	HP:0000486	Strabismus	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0000486	Strabismus	HP:0040283	ORPHA:2318
65062	TMEM237	HP:0000486	Strabismus	HP:0040283	ORPHA:475
65062	TMEM237	HP:0000486	Strabismus	9/14	OMIM:614424
65062	TMEM237	HP:0000482	Microcornea	HP:0040282	ORPHA:564
65062	TMEM237	HP:0000494	Downslanted palpebral fissures	-	OMIM:614424
65062	TMEM237	HP:0000490	Deeply set eye	-	OMIM:614424
65062	TMEM237	HP:0000463	Anteverted nares	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
65062	TMEM237	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2318
65062	TMEM237	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:564
65062	TMEM237	HP:0001746	Asplenia	HP:0040283	ORPHA:564
65062	TMEM237	HP:0001747	Accessory spleen	HP:0040283	ORPHA:564
65062	TMEM237	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
65062	TMEM237	HP:0000426	Prominent nasal bridge	-	OMIM:614424
65062	TMEM237	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:2318
65062	TMEM237	HP:0006706	Cystic liver disease	HP:0040283	ORPHA:564
65062	TMEM237	HP:0000518	Cataract	HP:0040282	ORPHA:564
65062	TMEM237	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
65062	TMEM237	HP:0000528	Anophthalmia	HP:0040283	ORPHA:564
65062	TMEM237	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
65062	TMEM237	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:2318
65062	TMEM237	HP:0000508	Ptosis	HP:0040283	ORPHA:220497
65062	TMEM237	HP:0000508	Ptosis	HP:0040282	ORPHA:2318
65062	TMEM237	HP:0000508	Ptosis	HP:0040283	ORPHA:475
65062	TMEM237	HP:0000508	Ptosis	-	OMIM:614424
65062	TMEM237	HP:0000505	Visual impairment	HP:0040282	ORPHA:2318
65062	TMEM237	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:564
65062	TMEM237	HP:0000575	Scotoma	5/18	OMIM:180100
65062	TMEM237	HP:0000589	Coloboma	2/14	OMIM:614424
65062	TMEM237	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:2318
65062	TMEM237	HP:0000568	Microphthalmia	-	OMIM:614424
65062	TMEM237	HP:0000568	Microphthalmia	HP:0040282	ORPHA:564
65062	TMEM237	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:2318
65062	TMEM237	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:564
65062	TMEM237	HP:0001883	Talipes	HP:0040282	ORPHA:564
65062	TMEM237	HP:0000543	Optic disc pallor	1/1	OMIM:180100
65062	TMEM237	HP:0000545	Myopia	-	OMIM:180100
65078	RTN4R	HP:0410291	Negativism	-	OMIM:181500
65078	RTN4R	HP:0000006	Autosomal dominant inheritance	-	OMIM:181500
65078	RTN4R	HP:0100753	Schizophrenia	-	OMIM:181500
65078	RTN4R	HP:0007086	Social and occupational deterioration	-	OMIM:181500
65078	RTN4R	HP:0002353	EEG abnormality	-	OMIM:181500
65078	RTN4R	HP:0000738	Hallucinations	-	OMIM:181500
65078	RTN4R	HP:0000746	Delusion	-	OMIM:181500
65080	MRPL44	HP:0000007	Autosomal recessive inheritance	-	OMIM:615395
65080	MRPL44	HP:0001414	Microvesicular hepatic steatosis	2/2	OMIM:615395
65080	MRPL44	HP:0002151	Increased circulating lactate concentration	1/2	OMIM:615395
65080	MRPL44	HP:0003593	Infantile onset	2/2	OMIM:615395
65080	MRPL44	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1/2	OMIM:615395
65080	MRPL44	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/2	OMIM:615395
65080	MRPL44	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/2	OMIM:615395
65080	MRPL44	HP:0001522	Death in infancy	1/2	OMIM:615395
65080	MRPL44	HP:0001639	Hypertrophic cardiomyopathy	2/2	OMIM:615395
65082	VPS33A	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
65082	VPS33A	HP:0001293	Cranial nerve compression	-	OMIM:131300
65082	VPS33A	HP:0100806	Sepsis	1/5	OMIM:617303
65082	VPS33A	HP:0100806	Sepsis	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0001270	Motor delay	5/5	OMIM:617303
65082	VPS33A	HP:0001252	Hypotonia	5/5	OMIM:617303
65082	VPS33A	HP:0001252	Hypotonia	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0001252	Hypotonia	2/7	OMIM:615777
65082	VPS33A	HP:0001249	Intellectual disability	5/7	OMIM:615777
65082	VPS33A	HP:0001265	Hyporeflexia	3/5	OMIM:617303
65082	VPS33A	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0001263	Global developmental delay	15/15	OMIM:617303
65082	VPS33A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:505248
65082	VPS33A	HP:0001263	Global developmental delay	-	OMIM:615777
65082	VPS33A	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0100874	Thick hair	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0002540	Inability to walk	10/13	OMIM:617303
65082	VPS33A	HP:0002540	Inability to walk	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0001217	Clubbing	1/2	OMIM:617303
65082	VPS33A	HP:0002515	Waddling gait	54/102	OMIM:131300
65082	VPS33A	HP:0002514	Cerebral calcification	-	OMIM:617303
65082	VPS33A	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0003819	Death in childhood	11/13	OMIM:617303
65082	VPS33A	HP:0008807	Acetabular dysplasia	-	OMIM:617303
65082	VPS33A	HP:0000097	Focal segmental glomerulosclerosis	1/2	OMIM:617303
65082	VPS33A	HP:0000093	Proteinuria	20/20	OMIM:617303
65082	VPS33A	HP:0000093	Proteinuria	HP:0040281	ORPHA:505248
65082	VPS33A	HP:0000092	Renal tubular atrophy	1/2	OMIM:617303
65082	VPS33A	HP:0001371	Flexion contracture	18/18	OMIM:617303
65082	VPS33A	HP:0001371	Flexion contracture	HP:0040281	ORPHA:505248
65082	VPS33A	HP:0001387	Joint stiffness	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0001382	Joint hypermobility	-	OMIM:615777
65082	VPS33A	HP:0002680	J-shaped sella turcica	1/2	OMIM:617303
65082	VPS33A	HP:0002694	Sclerosis of skull base	-	OMIM:131300
65082	VPS33A	HP:0008897	Postnatal growth retardation	-	OMIM:615777
65082	VPS33A	HP:0006191	Deep palmar crease	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
65082	VPS33A	HP:0001324	Muscle weakness	40/96	OMIM:131300
65082	VPS33A	HP:0001344	Absent speech	13/13	OMIM:617303
65082	VPS33A	HP:0001344	Absent speech	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
65082	VPS33A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
65082	VPS33A	HP:0000007	Autosomal recessive inheritance	-	OMIM:617303
65082	VPS33A	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
65082	VPS33A	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0002650	Scoliosis	12/14	OMIM:131300
65082	VPS33A	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
65082	VPS33A	HP:0031123	Recurrent gastroenteritis	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
65082	VPS33A	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
65082	VPS33A	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
65082	VPS33A	HP:0000158	Macroglossia	11/12	OMIM:617303
65082	VPS33A	HP:0000158	Macroglossia	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0000175	Cleft palate	2/7	OMIM:615777
65082	VPS33A	HP:0000123	Nephritis	4/13	OMIM:617303
65082	VPS33A	HP:0000100	Nephrotic syndrome	4/5	OMIM:617303
65082	VPS33A	HP:0000100	Nephrotic syndrome	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0001433	Hepatosplenomegaly	HP:0040281	ORPHA:505248
65082	VPS33A	HP:0000105	Enlarged kidney	3/13	OMIM:617303
65082	VPS33A	HP:0000105	Enlarged kidney	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0001403	Macrovesicular hepatic steatosis	1/2	OMIM:617303
65082	VPS33A	HP:0002003	Large forehead	1/2	OMIM:617303
65082	VPS33A	HP:0002086	Abnormality of the respiratory system	HP:0040281	ORPHA:505248
65082	VPS33A	HP:0002098	Respiratory distress	15/15	OMIM:617303
65082	VPS33A	HP:0002098	Respiratory distress	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0002092	Pulmonary arterial hypertension	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0003388	Easy fatigability	36/76	OMIM:131300
65082	VPS33A	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
65082	VPS33A	HP:0002188	Delayed CNS myelination	3/5	OMIM:617303
65082	VPS33A	HP:0003496	Increased circulating IgM level	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0003496	Increased circulating IgM level	4/5	OMIM:617303
65082	VPS33A	HP:0002162	Low posterior hairline	1/2	OMIM:617303
65082	VPS33A	HP:0002159	Heparan sulfate excretion in urine	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0003593	Infantile onset	2/2	OMIM:617303
65082	VPS33A	HP:0002240	Hepatomegaly	14/15	OMIM:617303
65082	VPS33A	HP:0003541	Urinary glycosaminoglycan excretion	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0002208	Coarse hair	1/2	OMIM:617303
65082	VPS33A	HP:0002205	Recurrent respiratory infections	18/18	OMIM:617303
65082	VPS33A	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:505248
65082	VPS33A	HP:0100790	Hernia	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0003510	Severe short stature	7/7	OMIM:615777
65082	VPS33A	HP:0001007	Hirsutism	1/2	OMIM:617303
65082	VPS33A	HP:0002315	Headache	-	OMIM:131300
65082	VPS33A	HP:0004976	Knee dislocation	6/7	OMIM:615777
65082	VPS33A	HP:0001072	Thickened skin	-	OMIM:617303
65082	VPS33A	HP:0001072	Thickened skin	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0009803	Short phalanx of finger	-	OMIM:615777
65082	VPS33A	HP:0008454	Lumbar kyphosis	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0009763	Limb pain	63/92	OMIM:131300
65082	VPS33A	HP:0003621	Juvenile onset	-	OMIM:131300
65082	VPS33A	HP:0005528	Bone marrow hypocellularity	2/3	OMIM:617303
65082	VPS33A	HP:0005528	Bone marrow hypocellularity	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
65082	VPS33A	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
65082	VPS33A	HP:0000639	Nystagmus	1/5	OMIM:617303
65082	VPS33A	HP:0000639	Nystagmus	HP:0040283	ORPHA:505248
65082	VPS33A	HP:6001056	Out-toeing	-	OMIM:131300
65082	VPS33A	HP:0000651	Diplopia	-	OMIM:131300
65082	VPS33A	HP:0000648	Optic atrophy	6/13	OMIM:617303
65082	VPS33A	HP:0000648	Optic atrophy	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0000629	Periorbital fullness	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0001956	Truncal obesity	2/7	OMIM:615777
65082	VPS33A	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0001903	Anemia	20/20	OMIM:617303
65082	VPS33A	HP:0001903	Anemia	HP:0040281	ORPHA:505248
65082	VPS33A	HP:0001903	Anemia	HP:0040283	OMIM:131300
65082	VPS33A	HP:0010049	Short metacarpal	-	OMIM:615777
65082	VPS33A	HP:0000678	Dental crowding	-	OMIM:615777
65082	VPS33A	HP:0000670	Carious teeth	-	OMIM:131300
65082	VPS33A	HP:0011304	Broad thumb	2/7	OMIM:615777
65082	VPS33A	HP:0000668	Hypodontia	-	OMIM:615777
65082	VPS33A	HP:0000664	Synophrys	1/2	OMIM:617303
65082	VPS33A	HP:0000664	Synophrys	-	OMIM:615777
65082	VPS33A	HP:0004315	Decreased circulating IgG concentration	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0003073	Hypoalbuminemia	5/5	OMIM:617303
65082	VPS33A	HP:0003073	Hypoalbuminemia	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0004396	Poor appetite	-	OMIM:131300
65082	VPS33A	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
65082	VPS33A	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
65082	VPS33A	HP:0003016	Metaphyseal widening	-	OMIM:617303
65082	VPS33A	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
65082	VPS33A	HP:0003026	Short long bone	7/7	OMIM:615777
65082	VPS33A	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
65082	VPS33A	HP:0000767	Pectus excavatum	1/2	OMIM:617303
65082	VPS33A	HP:0000767	Pectus excavatum	2/7	OMIM:615777
65082	VPS33A	HP:0000768	Pectus carinatum	1/2	OMIM:617303
65082	VPS33A	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0000768	Pectus carinatum	1/7	OMIM:615777
65082	VPS33A	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
65082	VPS33A	HP:0000750	Delayed speech and language development	-	OMIM:615777
65082	VPS33A	HP:0011461	Fetal onset	7/7	OMIM:615777
65082	VPS33A	HP:0000774	Narrow chest	2/7	OMIM:615777
65082	VPS33A	HP:0003196	Short nose	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0000926	Platyspondyly	1/7	OMIM:615777
65082	VPS33A	HP:0003180	Flat acetabular roof	-	OMIM:615777
65082	VPS33A	HP:0004482	Relative macrocephaly	-	OMIM:615777
65082	VPS33A	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
65082	VPS33A	HP:0000823	Delayed puberty	-	OMIM:131300
65082	VPS33A	HP:0040030	Chorioretinal hypopigmentation	1/5	OMIM:617303
65082	VPS33A	HP:0000894	Short clavicles	-	OMIM:615777
65082	VPS33A	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
65082	VPS33A	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0010307	Stridor	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
65082	VPS33A	HP:0000943	Dysostosis multiplex	HP:0040281	ORPHA:505248
65082	VPS33A	HP:0000943	Dysostosis multiplex	20/20	OMIM:617303
65082	VPS33A	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0000286	Epicanthus	13/13	OMIM:617303
65082	VPS33A	HP:0000286	Epicanthus	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0000286	Epicanthus	1/7	OMIM:615777
65082	VPS33A	HP:0000280	Coarse facial features	19/20	OMIM:617303
65082	VPS33A	HP:0000280	Coarse facial features	HP:0040281	ORPHA:505248
65082	VPS33A	HP:0000280	Coarse facial features	2/7	OMIM:615777
65082	VPS33A	HP:0000293	Full cheeks	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0000294	Low anterior hairline	1/2	OMIM:617303
65082	VPS33A	HP:0002827	Hip dislocation	3/7	OMIM:615777
65082	VPS33A	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0000252	Microcephaly	1/2	OMIM:617303
65082	VPS33A	HP:0000252	Microcephaly	-	OMIM:615777
65082	VPS33A	HP:0001552	Barrel-shaped chest	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0002857	Genu valgum	-	OMIM:131300
65082	VPS33A	HP:0002869	Flared iliac wing	-	OMIM:617303
65082	VPS33A	HP:0001533	Slender build	-	OMIM:131300
65082	VPS33A	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
65082	VPS33A	HP:0007807	Optic nerve compression	-	OMIM:131300
65082	VPS33A	HP:0012368	Flat face	7/7	OMIM:615777
65082	VPS33A	HP:0006538	Recurrent bronchopulmonary infections	5/5	OMIM:617303
65082	VPS33A	HP:0006532	Recurrent pneumonia	2/2	OMIM:617303
65082	VPS33A	HP:0006536	Airway obstruction	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
65082	VPS33A	HP:0002942	Thoracic kyphosis	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0000365	Hearing impairment	10/67	OMIM:131300
65082	VPS33A	HP:0000343	Long philtrum	1/7	OMIM:615777
65082	VPS33A	HP:0011001	Increased bone mineral density	-	OMIM:131300
65082	VPS33A	HP:0001649	Tachycardia	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0001643	Patent ductus arteriosus	8/18	OMIM:617303
65082	VPS33A	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0000311	Round face	2/7	OMIM:615777
65082	VPS33A	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0002970	Genu varum	-	OMIM:615777
65082	VPS33A	HP:0001639	Hypertrophic cardiomyopathy	9/13	OMIM:617303
65082	VPS33A	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0001635	Congestive heart failure	11/13	OMIM:617303
65082	VPS33A	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0001631	Atrial septal defect	7/13	OMIM:617303
65082	VPS33A	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0000303	Mandibular prognathia	-	OMIM:131300
65082	VPS33A	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
65082	VPS33A	HP:0012471	Thick vermilion border	-	OMIM:617303
65082	VPS33A	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0012448	Delayed myelination	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0012444	Brain atrophy	2/5	OMIM:617303
65082	VPS33A	HP:0012444	Brain atrophy	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0000470	Short neck	14/15	OMIM:617303
65082	VPS33A	HP:0000470	Short neck	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0000470	Short neck	1/7	OMIM:615777
65082	VPS33A	HP:0001769	Broad foot	HP:0040283	OMIM:615777
65082	VPS33A	HP:0001763	Pes planus	1/7	OMIM:615777
65082	VPS33A	HP:0000445	Wide nose	13/13	OMIM:617303
65082	VPS33A	HP:0001744	Splenomegaly	19/20	OMIM:617303
65082	VPS33A	HP:0000431	Wide nasal bridge	1/2	OMIM:617303
65082	VPS33A	HP:0001840	Metatarsus adductus	-	OMIM:615777
65082	VPS33A	HP:0000527	Long eyelashes	1/2	OMIM:617303
65082	VPS33A	HP:0000527	Long eyelashes	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0000520	Proptosis	2/4	OMIM:131300
65082	VPS33A	HP:0000520	Proptosis	7/7	OMIM:615777
65082	VPS33A	HP:0000506	Telecanthus	13/13	OMIM:617303
65082	VPS33A	HP:0000506	Telecanthus	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0012597	Heavy proteinuria	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0000592	Blue sclerae	2/7	OMIM:615777
65082	VPS33A	HP:0011220	Prominent forehead	13/13	OMIM:617303
65082	VPS33A	HP:0011220	Prominent forehead	HP:0040283	ORPHA:505248
65082	VPS33A	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
65082	VPS33A	HP:0001882	Decreased total leukocyte count	8/13	OMIM:617303
65082	VPS33A	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:505248
65082	VPS33A	HP:0012514	Lower limb pain	4/4	OMIM:131300
65082	VPS33A	HP:0001873	Thrombocytopenia	16/18	OMIM:617303
65082	VPS33A	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:505248
65082	VPS33A	HP:0001875	Decreased total neutrophil count	4/5	OMIM:617303
65109	UPF3B	HP:0001156	Brachydactyly	HP:0040283	ORPHA:776
65109	UPF3B	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:776
65109	UPF3B	HP:0001256	Intellectual disability, mild	4/4	OMIM:300676
65109	UPF3B	HP:0001250	Seizure	HP:0040283	ORPHA:776
65109	UPF3B	HP:0001252	Hypotonia	HP:0040281	ORPHA:776
65109	UPF3B	HP:0001252	Hypotonia	3/11	OMIM:300676
65109	UPF3B	HP:0001249	Intellectual disability	HP:0040281	ORPHA:776
65109	UPF3B	HP:0001249	Intellectual disability	10/11	OMIM:300676
65109	UPF3B	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040282	ORPHA:776
65109	UPF3B	HP:0000098	Tall stature	2/11	OMIM:300676
65109	UPF3B	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:776
65109	UPF3B	HP:0000053	Macroorchidism	HP:0040282	ORPHA:776
65109	UPF3B	HP:0002650	Scoliosis	HP:0040281	ORPHA:776
65109	UPF3B	HP:0002650	Scoliosis	3/11	OMIM:300676
65109	UPF3B	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:776
65109	UPF3B	HP:0001419	X-linked recessive inheritance	-	OMIM:300676
65109	UPF3B	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:776
65109	UPF3B	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:776
65109	UPF3B	HP:0100753	Schizophrenia	HP:0040283	ORPHA:776
65109	UPF3B	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:776
65109	UPF3B	HP:0003623	Neonatal onset	2/4	OMIM:300676
65109	UPF3B	HP:0000678	Dental crowding	HP:0040283	ORPHA:776
65109	UPF3B	HP:0011302	Long palm	3/11	OMIM:300676
65109	UPF3B	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:776
65109	UPF3B	HP:0000767	Pectus excavatum	2/11	OMIM:300676
65109	UPF3B	HP:0000768	Pectus carinatum	1/11	OMIM:300676
65109	UPF3B	HP:0000738	Hallucinations	HP:0040283	ORPHA:776
65109	UPF3B	HP:0000729	Autistic behavior	4/8	OMIM:300676
65109	UPF3B	HP:0000709	Psychosis	HP:0040283	ORPHA:776
65109	UPF3B	HP:0000708	Atypical behavior	HP:0040281	ORPHA:776
65109	UPF3B	HP:0011463	Childhood onset	2/4	OMIM:300676
65109	UPF3B	HP:0000774	Narrow chest	1/11	OMIM:300676
65109	UPF3B	HP:0000256	Macrocephaly	HP:0040281	ORPHA:776
65109	UPF3B	HP:0000256	Macrocephaly	2/11	OMIM:300676
65109	UPF3B	HP:0000275	Narrow face	HP:0040282	ORPHA:776
65109	UPF3B	HP:0000275	Narrow face	7/11	OMIM:300676
65109	UPF3B	HP:0000276	Long face	6/11	OMIM:300676
65109	UPF3B	HP:0002808	Kyphosis	1/11	OMIM:300676
65109	UPF3B	HP:0000248	Brachycephaly	HP:0040283	ORPHA:776
65109	UPF3B	HP:0000218	High palate	HP:0040281	ORPHA:776
65109	UPF3B	HP:0000218	High palate	6/11	OMIM:300676
65109	UPF3B	HP:0001533	Slender build	7/11	OMIM:300676
65109	UPF3B	HP:0001519	Disproportionate tall stature	HP:0040281	ORPHA:776
65109	UPF3B	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:776
65109	UPF3B	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:776
65109	UPF3B	HP:0001611	Hypernasal speech	4/11	OMIM:300676
65109	UPF3B	HP:0000369	Low-set ears	HP:0040283	ORPHA:776
65109	UPF3B	HP:0000348	High forehead	HP:0040281	ORPHA:776
65109	UPF3B	HP:0000347	Micrognathia	HP:0040281	ORPHA:776
65109	UPF3B	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:776
65109	UPF3B	HP:0000327	Hypoplasia of the maxilla	4/11	OMIM:300676
65109	UPF3B	HP:0000322	Short philtrum	HP:0040282	ORPHA:776
65109	UPF3B	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:776
65109	UPF3B	HP:0000303	Mandibular prognathia	4/11	OMIM:300676
65109	UPF3B	HP:0012450	Chronic constipation	2/11	OMIM:300676
65109	UPF3B	HP:0000411	Protruding ear	HP:0040283	ORPHA:776
65109	UPF3B	HP:0000426	Prominent nasal bridge	6/11	OMIM:300676
65109	UPF3B	HP:0000426	Prominent nasal bridge	HP:0040282	ORPHA:776
65109	UPF3B	HP:0001833	Long foot	1/11	OMIM:300676
65109	UPF3B	HP:0011220	Prominent forehead	2/11	OMIM:300676
65125	WNK1	HP:0001182	Tapered finger	HP:0040281	ORPHA:970
65125	WNK1	HP:0001290	Generalized hypotonia	-	OMIM:201300
65125	WNK1	HP:0001284	Areflexia	-	OMIM:201300
65125	WNK1	HP:0001252	Hypotonia	-	OMIM:201300
65125	WNK1	HP:0001265	Hyporeflexia	-	OMIM:201300
65125	WNK1	HP:0008872	Feeding difficulties in infancy	-	OMIM:201300
65125	WNK1	HP:0007460	Autoamputation of digits	-	OMIM:201300
65125	WNK1	HP:0006121	Acral ulceration	-	OMIM:201300
65125	WNK1	HP:0002661	Painless fractures due to injury	-	OMIM:201300
65125	WNK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:201300
65125	WNK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614492
65125	WNK1	HP:0002645	Wormian bones	HP:0040281	ORPHA:970
65125	WNK1	HP:0002797	Osteolysis	HP:0040281	ORPHA:970
65125	WNK1	HP:0003351	Decreased circulating renin concentration	10/10	OMIM:614492
65125	WNK1	HP:0002020	Gastroesophageal reflux	-	OMIM:201300
65125	WNK1	HP:0003307	Hyperlordosis	HP:0040281	ORPHA:970
65125	WNK1	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:201300
65125	WNK1	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:970
65125	WNK1	HP:0002153	Hyperkalemia	10/10	OMIM:614492
65125	WNK1	HP:0003448	Decreased sensory nerve conduction velocity	-	OMIM:201300
65125	WNK1	HP:0008242	Pseudohypoaldosteronism	-	OMIM:614492
65125	WNK1	HP:0003593	Infantile onset	-	OMIM:201300
65125	WNK1	HP:0032066	Decreased serum bicarbonate concentration	10/10	OMIM:614492
65125	WNK1	HP:0008391	Dystrophic fingernails	HP:0040281	ORPHA:970
65125	WNK1	HP:0001069	Episodic hyperhidrosis	-	OMIM:201300
65125	WNK1	HP:0003677	Slowly progressive	-	OMIM:201300
65125	WNK1	HP:0009830	Peripheral neuropathy	-	OMIM:201300
65125	WNK1	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:201300
65125	WNK1	HP:0004918	Hyperchloremic metabolic acidosis	-	OMIM:614492
65125	WNK1	HP:0001942	Metabolic acidosis	-	OMIM:614492
65125	WNK1	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:201300
65125	WNK1	HP:0003028	Abnormality of the ankle	HP:0040281	ORPHA:970
65125	WNK1	HP:0004349	Reduced bone mineral density	HP:0040281	ORPHA:970
65125	WNK1	HP:0000762	Decreased nerve conduction velocity	-	OMIM:201300
65125	WNK1	HP:0011423	Hyperchloremia	10/10	OMIM:614492
65125	WNK1	HP:0003103	Abnormal cortical bone morphology	HP:0040281	ORPHA:970
65125	WNK1	HP:0000822	Hypertension	10/10	OMIM:614492
65125	WNK1	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:970
65125	WNK1	HP:0003272	Abnormal hip bone morphology	HP:0040281	ORPHA:970
65125	WNK1	HP:0008000	Decreased corneal reflex	-	OMIM:201300
65125	WNK1	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:970
65125	WNK1	HP:0000970	Anhidrosis	-	OMIM:201300
65125	WNK1	HP:0002815	Abnormality of the knee	HP:0040281	ORPHA:970
65125	WNK1	HP:0000224	Hypogeusia	-	OMIM:201300
65125	WNK1	HP:0001842	Foot acroosteolysis	HP:0040281	ORPHA:970
65125	WNK1	HP:0001842	Foot acroosteolysis	-	OMIM:201300
65125	WNK1	HP:0001818	Paronychia	-	OMIM:201300
65125	WNK1	HP:0001810	Dystrophic toenail	HP:0040281	ORPHA:970
65217	PCDH15	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
65217	PCDH15	HP:0001270	Motor delay	1/8	OMIM:602083
65217	PCDH15	HP:0001251	Ataxia	HP:0040281	ORPHA:231169
65217	PCDH15	HP:0001249	Intellectual disability	HP:0040281	ORPHA:231169
65217	PCDH15	HP:0001263	Global developmental delay	HP:0040281	ORPHA:231169
65217	PCDH15	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:231169
65217	PCDH15	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
65217	PCDH15	HP:0000007	Autosomal recessive inheritance	-	OMIM:601067
65217	PCDH15	HP:0000007	Autosomal recessive inheritance	-	OMIM:609533
65217	PCDH15	HP:0000007	Autosomal recessive inheritance	-	OMIM:602083
65217	PCDH15	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
65217	PCDH15	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:231169
65217	PCDH15	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
65217	PCDH15	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
65217	PCDH15	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:231169
65217	PCDH15	HP:0003577	Congenital onset	8/8	OMIM:609533
65217	PCDH15	HP:0003577	Congenital onset	7/7	OMIM:602083
65217	PCDH15	HP:0100753	Schizophrenia	HP:0040282	ORPHA:231169
65217	PCDH15	HP:0008527	Congenital sensorineural hearing impairment	15/15	OMIM:602083
65217	PCDH15	HP:0008499	High hypermetropia	HP:0040282	ORPHA:231169
65217	PCDH15	HP:0003621	Juvenile onset	8/19	OMIM:180100
65217	PCDH15	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:231169
65217	PCDH15	HP:0000662	Nyctalopia	26/28	OMIM:180100
65217	PCDH15	HP:0000662	Nyctalopia	HP:0040281	ORPHA:231169
65217	PCDH15	HP:0000738	Hallucinations	HP:0040283	ORPHA:231169
65217	PCDH15	HP:0000739	Anxiety	HP:0040283	ORPHA:231169
65217	PCDH15	HP:0000716	Depression	HP:0040283	ORPHA:231169
65217	PCDH15	HP:0011463	Childhood onset	3/19	OMIM:180100
65217	PCDH15	HP:0011462	Young adult onset	8/19	OMIM:180100
65217	PCDH15	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
65217	PCDH15	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:231169
65217	PCDH15	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
65217	PCDH15	HP:0012377	Hemianopia	HP:0040281	ORPHA:231169
65217	PCDH15	HP:0000365	Hearing impairment	-	OMIM:601067
65217	PCDH15	HP:0000375	Abnormal cochlea morphology	HP:0040281	ORPHA:231169
65217	PCDH15	HP:0031629	Impaired tandem gait	7/8	OMIM:602083
65217	PCDH15	HP:0000407	Sensorineural hearing impairment	8/8	OMIM:609533
65217	PCDH15	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:231169
65217	PCDH15	HP:0001751	Abnormal vestibular function	-	OMIM:601067
65217	PCDH15	HP:0001751	Abnormal vestibular function	7/8	OMIM:602083
65217	PCDH15	HP:0001756	Vestibular hyporeflexia	HP:0040281	ORPHA:231169
65217	PCDH15	HP:0000518	Cataract	HP:0040282	ORPHA:231169
65217	PCDH15	HP:0000510	Rod-cone dystrophy	-	OMIM:601067
65217	PCDH15	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
65217	PCDH15	HP:0000510	Rod-cone dystrophy	14/15	OMIM:602083
65217	PCDH15	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:231169
65217	PCDH15	HP:0000505	Visual impairment	0/8	OMIM:609533
65217	PCDH15	HP:0000575	Scotoma	HP:0040281	ORPHA:231169
65217	PCDH15	HP:0000575	Scotoma	5/18	OMIM:180100
65217	PCDH15	HP:0000572	Visual loss	HP:0040281	ORPHA:231169
65217	PCDH15	HP:0000543	Optic disc pallor	1/1	OMIM:180100
65217	PCDH15	HP:0000545	Myopia	-	OMIM:180100
65250	CPLANE1	HP:0001177	Preaxial hand polydactyly	2/12	OMIM:277170
65250	CPLANE1	HP:0001156	Brachydactyly	-	OMIM:277170
65250	CPLANE1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0001162	Postaxial hand polydactyly	7/12	OMIM:277170
65250	CPLANE1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2754
65250	CPLANE1	HP:0001159	Syndactyly	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
65250	CPLANE1	HP:0002444	Hypothalamic hamartoma	5/12	OMIM:277170
65250	CPLANE1	HP:0002444	Hypothalamic hamartoma	HP:0040283	ORPHA:2754
65250	CPLANE1	HP:0002436	Occipital meningocele	2/12	OMIM:277170
65250	CPLANE1	HP:0002419	Molar tooth sign on MRI	12/12	OMIM:277170
65250	CPLANE1	HP:0002419	Molar tooth sign on MRI	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0002419	Molar tooth sign on MRI	9/9	OMIM:614615
65250	CPLANE1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
65250	CPLANE1	HP:0001293	Cranial nerve compression	-	OMIM:131300
65250	CPLANE1	HP:0001290	Generalized hypotonia	-	OMIM:277170
65250	CPLANE1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0001274	Agenesis of corpus callosum	2/12	OMIM:277170
65250	CPLANE1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
65250	CPLANE1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0001250	Seizure	HP:0040283	ORPHA:2754
65250	CPLANE1	HP:0001250	Seizure	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0001252	Hypotonia	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0001252	Hypotonia	-	OMIM:277170
65250	CPLANE1	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
65250	CPLANE1	HP:0001252	Hypotonia	2/7	OMIM:615777
65250	CPLANE1	HP:0001251	Ataxia	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0001251	Ataxia	HP:0040281	ORPHA:475
65250	CPLANE1	HP:0001251	Ataxia	-	OMIM:614615
65250	CPLANE1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0001249	Intellectual disability	-	OMIM:277170
65250	CPLANE1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
65250	CPLANE1	HP:0001249	Intellectual disability	5/7	OMIM:615777
65250	CPLANE1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0001263	Global developmental delay	10/10	OMIM:614615
65250	CPLANE1	HP:0001263	Global developmental delay	-	OMIM:277170
65250	CPLANE1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
65250	CPLANE1	HP:0001263	Global developmental delay	-	OMIM:615777
65250	CPLANE1	HP:0032388	Periventricular nodular heterotopia	1/12	OMIM:277170
65250	CPLANE1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2754
65250	CPLANE1	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2754
65250	CPLANE1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:2754
65250	CPLANE1	HP:0002515	Waddling gait	54/102	OMIM:131300
65250	CPLANE1	HP:0001382	Joint hypermobility	-	OMIM:615777
65250	CPLANE1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
65250	CPLANE1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
65250	CPLANE1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
65250	CPLANE1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0006159	Mesoaxial hand polydactyly	6/12	OMIM:277170
65250	CPLANE1	HP:0006145	Central Y-shaped metacarpal	-	OMIM:277170
65250	CPLANE1	HP:0006145	Central Y-shaped metacarpal	HP:0040283	ORPHA:2754
65250	CPLANE1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
65250	CPLANE1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:65684
65250	CPLANE1	HP:0001324	Muscle weakness	40/96	OMIM:131300
65250	CPLANE1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
65250	CPLANE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614615
65250	CPLANE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
65250	CPLANE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
65250	CPLANE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:277170
65250	CPLANE1	HP:0001337	Tremor	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0001337	Tremor	HP:0040283	ORPHA:65684
65250	CPLANE1	HP:0001337	Tremor	HP:0040283	ORPHA:2754
65250	CPLANE1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
65250	CPLANE1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
65250	CPLANE1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
65250	CPLANE1	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:277170
65250	CPLANE1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:2754
65250	CPLANE1	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0002650	Scoliosis	12/14	OMIM:131300
65250	CPLANE1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
65250	CPLANE1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
65250	CPLANE1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
65250	CPLANE1	HP:0000180	Lobulated tongue	3/10	OMIM:277170
65250	CPLANE1	HP:0000180	Lobulated tongue	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0000199	Tongue nodules	-	OMIM:277170
65250	CPLANE1	HP:0000199	Tongue nodules	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
65250	CPLANE1	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0000191	Accessory oral frenulum	4/10	OMIM:277170
65250	CPLANE1	HP:0000175	Cleft palate	-	OMIM:277170
65250	CPLANE1	HP:0000175	Cleft palate	2/7	OMIM:615777
65250	CPLANE1	HP:0000175	Cleft palate	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
65250	CPLANE1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
65250	CPLANE1	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
65250	CPLANE1	HP:0000110	Renal dysplasia	-	OMIM:277170
65250	CPLANE1	HP:0000104	Renal agenesis	-	OMIM:277170
65250	CPLANE1	HP:0000104	Renal agenesis	HP:0040283	ORPHA:2754
65250	CPLANE1	HP:0002715	Abnormality of the immune system	HP:0040283	ORPHA:65684
65250	CPLANE1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0011802	Hamartoma of tongue	3/10	OMIM:277170
65250	CPLANE1	HP:0011802	Hamartoma of tongue	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0003388	Easy fatigability	36/76	OMIM:131300
65250	CPLANE1	HP:0009466	Radial deviation of finger	-	OMIM:277170
65250	CPLANE1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
65250	CPLANE1	HP:0002139	Arrhinencephaly	1/12	OMIM:277170
65250	CPLANE1	HP:0002132	Porencephalic cyst	1/12	OMIM:277170
65250	CPLANE1	HP:0003457	EMG abnormality	HP:0040281	ORPHA:65684
65250	CPLANE1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0002126	Polymicrogyria	1/12	OMIM:277170
65250	CPLANE1	HP:0002104	Apnea	HP:0040281	ORPHA:475
65250	CPLANE1	HP:0002104	Apnea	HP:0040283	ORPHA:2754
65250	CPLANE1	HP:0011939	3-4 finger cutaneous syndactyly	1/10	OMIM:614615
65250	CPLANE1	HP:0003593	Infantile onset	-	OMIM:614615
65250	CPLANE1	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:2754
65250	CPLANE1	HP:0003577	Congenital onset	12/12	OMIM:277170
65250	CPLANE1	HP:0100702	Arachnoid cyst	2/12	OMIM:277170
65250	CPLANE1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0002280	Enlarged cisterna magna	1/12	OMIM:277170
65250	CPLANE1	HP:0007036	Hypoplasia of olfactory tract	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0003510	Severe short stature	7/7	OMIM:615777
65250	CPLANE1	HP:0002380	Fasciculations	HP:0040283	ORPHA:65684
65250	CPLANE1	HP:0002398	Degeneration of anterior horn cells	HP:0040282	ORPHA:65684
65250	CPLANE1	HP:0002315	Headache	-	OMIM:131300
65250	CPLANE1	HP:0004976	Knee dislocation	6/7	OMIM:615777
65250	CPLANE1	HP:0009803	Short phalanx of finger	-	OMIM:615777
65250	CPLANE1	HP:0007149	Distal upper limb amyotrophy	HP:0040281	ORPHA:65684
65250	CPLANE1	HP:0009763	Limb pain	63/92	OMIM:131300
65250	CPLANE1	HP:0003621	Juvenile onset	8/19	OMIM:180100
65250	CPLANE1	HP:0003621	Juvenile onset	-	OMIM:131300
65250	CPLANE1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
65250	CPLANE1	HP:0009084	Midline notch of upper alveolar ridge	HP:0040283	ORPHA:2754
65250	CPLANE1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
65250	CPLANE1	HP:0000639	Nystagmus	-	OMIM:277170
65250	CPLANE1	HP:0000639	Nystagmus	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
65250	CPLANE1	HP:6001056	Out-toeing	-	OMIM:131300
65250	CPLANE1	HP:0000651	Diplopia	-	OMIM:131300
65250	CPLANE1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0001956	Truncal obesity	2/7	OMIM:615777
65250	CPLANE1	HP:0001903	Anemia	HP:0040283	OMIM:131300
65250	CPLANE1	HP:0010049	Short metacarpal	-	OMIM:615777
65250	CPLANE1	HP:0011340	Incomplete cleft of the upper lip	2/10	OMIM:277170
65250	CPLANE1	HP:0000678	Dental crowding	-	OMIM:615777
65250	CPLANE1	HP:0000662	Nyctalopia	26/28	OMIM:180100
65250	CPLANE1	HP:0000657	Oculomotor apraxia	9/10	OMIM:614615
65250	CPLANE1	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
65250	CPLANE1	HP:0000670	Carious teeth	-	OMIM:131300
65250	CPLANE1	HP:0011304	Broad thumb	2/7	OMIM:615777
65250	CPLANE1	HP:0000668	Hypodontia	-	OMIM:615777
65250	CPLANE1	HP:0000664	Synophrys	-	OMIM:615777
65250	CPLANE1	HP:0004322	Short stature	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0004322	Short stature	2/12	OMIM:277170
65250	CPLANE1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0004383	Hypoplastic left heart	1/12	OMIM:277170
65250	CPLANE1	HP:0004396	Poor appetite	-	OMIM:131300
65250	CPLANE1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
65250	CPLANE1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
65250	CPLANE1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
65250	CPLANE1	HP:0003026	Short long bone	7/7	OMIM:615777
65250	CPLANE1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
65250	CPLANE1	HP:0100022	Abnormality of movement	HP:0040283	ORPHA:65684
65250	CPLANE1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
65250	CPLANE1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
65250	CPLANE1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
65250	CPLANE1	HP:0000750	Delayed speech and language development	-	OMIM:615777
65250	CPLANE1	HP:0011463	Childhood onset	3/19	OMIM:180100
65250	CPLANE1	HP:0011462	Young adult onset	8/19	OMIM:180100
65250	CPLANE1	HP:0011461	Fetal onset	7/7	OMIM:615777
65250	CPLANE1	HP:0000774	Narrow chest	2/7	OMIM:615777
65250	CPLANE1	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
65250	CPLANE1	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0000926	Platyspondyly	1/7	OMIM:615777
65250	CPLANE1	HP:0003180	Flat acetabular roof	-	OMIM:615777
65250	CPLANE1	HP:0004482	Relative macrocephaly	-	OMIM:615777
65250	CPLANE1	HP:0003134	Abnormality of peripheral nerve conduction	HP:0040282	ORPHA:65684
65250	CPLANE1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
65250	CPLANE1	HP:0000878	11 pairs of ribs	1/12	OMIM:277170
65250	CPLANE1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0003097	Short femur	1/12	OMIM:277170
65250	CPLANE1	HP:0000823	Delayed puberty	-	OMIM:131300
65250	CPLANE1	HP:0040019	Finger clinodactyly	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0000894	Short clavicles	-	OMIM:615777
65250	CPLANE1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
65250	CPLANE1	HP:0100260	Mesoaxial polydactyly	HP:0040283	ORPHA:2754
65250	CPLANE1	HP:0100259	Postaxial polydactyly	-	OMIM:277170
65250	CPLANE1	HP:0100259	Postaxial polydactyly	1/10	OMIM:614615
65250	CPLANE1	HP:0100258	Preaxial polydactyly	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0100258	Preaxial polydactyly	1/10	OMIM:614615
65250	CPLANE1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
65250	CPLANE1	HP:0000286	Epicanthus	-	OMIM:277170
65250	CPLANE1	HP:0000286	Epicanthus	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0000286	Epicanthus	1/7	OMIM:615777
65250	CPLANE1	HP:0000280	Coarse facial features	2/7	OMIM:615777
65250	CPLANE1	HP:0000276	Long face	HP:0040282	ORPHA:475
65250	CPLANE1	HP:0000276	Long face	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
65250	CPLANE1	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:65684
65250	CPLANE1	HP:0002827	Hip dislocation	3/7	OMIM:615777
65250	CPLANE1	HP:0030084	Clinodactyly	-	OMIM:277170
65250	CPLANE1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0000252	Microcephaly	-	OMIM:615777
65250	CPLANE1	HP:0002883	Hyperventilation	8/10	OMIM:614615
65250	CPLANE1	HP:0012210	Abnormal renal morphology	0/7	OMIM:614615
65250	CPLANE1	HP:0000218	High palate	-	OMIM:277170
65250	CPLANE1	HP:0000218	High palate	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
65250	CPLANE1	HP:0002876	Episodic tachypnea	HP:0040283	ORPHA:2754
65250	CPLANE1	HP:0002857	Genu valgum	-	OMIM:131300
65250	CPLANE1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0001533	Slender build	-	OMIM:131300
65250	CPLANE1	HP:0000204	Cleft upper lip	-	OMIM:277170
65250	CPLANE1	HP:0001508	Failure to thrive	-	OMIM:277170
65250	CPLANE1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
65250	CPLANE1	HP:0001510	Growth delay	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
65250	CPLANE1	HP:0007807	Optic nerve compression	-	OMIM:131300
65250	CPLANE1	HP:0012368	Flat face	7/7	OMIM:615777
65250	CPLANE1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
65250	CPLANE1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0000365	Hearing impairment	10/67	OMIM:131300
65250	CPLANE1	HP:0000358	Posteriorly rotated ears	-	OMIM:277170
65250	CPLANE1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0000369	Low-set ears	-	OMIM:277170
65250	CPLANE1	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0000343	Long philtrum	1/7	OMIM:615777
65250	CPLANE1	HP:0011001	Increased bone mineral density	-	OMIM:131300
65250	CPLANE1	HP:0001680	Coarctation of aorta	1/12	OMIM:277170
65250	CPLANE1	HP:0000347	Micrognathia	-	OMIM:277170
65250	CPLANE1	HP:0000347	Micrognathia	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0002982	Tibial bowing	1/12	OMIM:277170
65250	CPLANE1	HP:0000316	Hypertelorism	-	OMIM:277170
65250	CPLANE1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0000311	Round face	2/7	OMIM:615777
65250	CPLANE1	HP:0002990	Fibular aplasia	1/12	OMIM:277170
65250	CPLANE1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2754
65250	CPLANE1	HP:0002970	Genu varum	-	OMIM:615777
65250	CPLANE1	HP:0000303	Mandibular prognathia	-	OMIM:131300
65250	CPLANE1	HP:0000405	Conductive hearing impairment	-	OMIM:277170
65250	CPLANE1	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
65250	CPLANE1	HP:0000486	Strabismus	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0000479	Abnormal retinal morphology	0/10	OMIM:614615
65250	CPLANE1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0000455	Broad nasal tip	-	OMIM:277170
65250	CPLANE1	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0000470	Short neck	1/7	OMIM:615777
65250	CPLANE1	HP:0001770	Toe syndactyly	7/12	OMIM:277170
65250	CPLANE1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
65250	CPLANE1	HP:0001763	Pes planus	1/7	OMIM:615777
65250	CPLANE1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:2754
65250	CPLANE1	HP:0001841	Preaxial foot polydactyly	12/12	OMIM:277170
65250	CPLANE1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
65250	CPLANE1	HP:0001840	Metatarsus adductus	-	OMIM:615777
65250	CPLANE1	HP:0000520	Proptosis	2/4	OMIM:131300
65250	CPLANE1	HP:0000520	Proptosis	7/7	OMIM:615777
65250	CPLANE1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:2754
65250	CPLANE1	HP:0000508	Ptosis	HP:0040283	ORPHA:475
65250	CPLANE1	HP:0000575	Scotoma	5/18	OMIM:180100
65250	CPLANE1	HP:0000592	Blue sclerae	2/7	OMIM:615777
65250	CPLANE1	HP:0000565	Esotropia	-	OMIM:277170
65250	CPLANE1	HP:0000565	Esotropia	HP:0040282	ORPHA:2754
65250	CPLANE1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
65250	CPLANE1	HP:0012514	Lower limb pain	4/4	OMIM:131300
65250	CPLANE1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
65250	CPLANE1	HP:0000545	Myopia	-	OMIM:180100
65260	COA7	HP:0002460	Distal muscle weakness	-	OMIM:618387
65260	COA7	HP:0001272	Cerebellar atrophy	-	OMIM:618387
65260	COA7	HP:0001251	Ataxia	1/1	OMIM:618387
65260	COA7	HP:0001265	Hyporeflexia	1/1	OMIM:618387
65260	COA7	HP:0001260	Dysarthria	1/1	OMIM:618387
65260	COA7	HP:0001263	Global developmental delay	1/1	OMIM:618387
65260	COA7	HP:0000007	Autosomal recessive inheritance	-	OMIM:618387
65260	COA7	HP:0001337	Tremor	1/1	OMIM:618387
65260	COA7	HP:0001310	Dysmetria	1/1	OMIM:618387
65260	COA7	HP:0002066	Gait ataxia	-	OMIM:618387
65260	COA7	HP:0003376	Steppage gait	-	OMIM:618387
65260	COA7	HP:0003477	Peripheral axonal neuropathy	-	OMIM:618387
65260	COA7	HP:0003693	Distal amyotrophy	1/1	OMIM:618387
65260	COA7	HP:0003690	Limb muscle weakness	1/1	OMIM:618387
65260	COA7	HP:0002352	Leukoencephalopathy	HP:0040284	OMIM:618387
65260	COA7	HP:0003677	Slowly progressive	-	OMIM:618387
65260	COA7	HP:0009027	Foot dorsiflexor weakness	-	OMIM:618387
65260	COA7	HP:0011402	Demyelinating sensory neuropathy	1/1	OMIM:618387
65260	COA7	HP:0011463	Childhood onset	1/1	OMIM:618387
65260	COA7	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:618387
65260	COA7	HP:0002936	Distal sensory impairment	-	OMIM:618387
65260	COA7	HP:0001765	Hammertoe	-	OMIM:618387
65260	COA7	HP:0001761	Pes cavus	-	OMIM:618387
65266	WNK4	HP:0000006	Autosomal dominant inheritance	-	OMIM:614491
65266	WNK4	HP:0002153	Hyperkalemia	-	OMIM:614491
65266	WNK4	HP:0008242	Pseudohypoaldosteronism	-	OMIM:614491
65266	WNK4	HP:0004918	Hyperchloremic metabolic acidosis	-	OMIM:614491
65266	WNK4	HP:0011423	Hyperchloremia	-	OMIM:614491
65266	WNK4	HP:0000822	Hypertension	-	OMIM:614491
65267	WNK3	HP:0001290	Generalized hypotonia	-	OMIM:309610
65267	WNK3	HP:0001252	Hypotonia	-	OMIM:309610
65267	WNK3	HP:0001249	Intellectual disability	-	OMIM:309610
65267	WNK3	HP:0000023	Inguinal hernia	-	OMIM:309610
65267	WNK3	HP:0000028	Cryptorchidism	-	OMIM:309610
65267	WNK3	HP:0002673	Coxa valga	-	OMIM:309610
65267	WNK3	HP:0000164	Abnormality of the dentition	-	OMIM:309610
65267	WNK3	HP:0001419	X-linked recessive inheritance	-	OMIM:309610
65267	WNK3	HP:0002059	Cerebral atrophy	-	OMIM:309610
65267	WNK3	HP:0009466	Radial deviation of finger	-	OMIM:309610
65267	WNK3	HP:0010499	Patellar subluxation	-	OMIM:309610
65267	WNK3	HP:0010781	Skin dimple	-	OMIM:309610
65267	WNK3	HP:0000639	Nystagmus	-	OMIM:309610
65267	WNK3	HP:0000878	11 pairs of ribs	-	OMIM:309610
65267	WNK3	HP:0000939	Osteoporosis	-	OMIM:309610
65267	WNK3	HP:0000286	Epicanthus	-	OMIM:309610
65267	WNK3	HP:0000278	Retrognathia	-	OMIM:309610
65267	WNK3	HP:0030084	Clinodactyly	-	OMIM:309610
65267	WNK3	HP:0000369	Low-set ears	-	OMIM:309610
65267	WNK3	HP:0002999	Patellar dislocation	-	OMIM:309610
65267	WNK3	HP:0000348	High forehead	-	OMIM:309610
65267	WNK3	HP:0000316	Hypertelorism	-	OMIM:309610
65267	WNK3	HP:0000486	Strabismus	-	OMIM:309610
65267	WNK3	HP:0000448	Prominent nose	-	OMIM:309610
65267	WNK3	HP:0001762	Talipes equinovarus	-	OMIM:309610
65267	WNK3	HP:0000508	Ptosis	-	OMIM:309610
65975	STK33	HP:0034811	Bent sperm flagella	3/3	OMIM:620849
65975	STK33	HP:0000007	Autosomal recessive inheritance	-	OMIM:620849
65975	STK33	HP:0032558	Absent sperm flagella	3/3	OMIM:620849
65975	STK33	HP:0032559	Short sperm flagella	3/3	OMIM:620849
65975	STK33	HP:0032560	Coiled sperm flagella	3/3	OMIM:620849
65975	STK33	HP:0033393	Irregularly shaped sperm tail	3/3	OMIM:620849
65975	STK33	HP:0034011	Reduced progressive sperm motility	4/4	OMIM:620849
65975	STK33	HP:0011462	Young adult onset	4/4	OMIM:620849
65975	STK33	HP:0000798	Oligozoospermia	1/4	OMIM:620849
65975	STK33	HP:0003251	Male infertility	4/4	OMIM:620849
65975	STK33	HP:0012207	Reduced sperm motility	3/4	OMIM:620849
65992	DDRGK1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
65992	DDRGK1	HP:0001293	Cranial nerve compression	-	OMIM:131300
65992	DDRGK1	HP:0001252	Hypotonia	2/7	OMIM:615777
65992	DDRGK1	HP:0001249	Intellectual disability	5/7	OMIM:615777
65992	DDRGK1	HP:0001263	Global developmental delay	-	OMIM:615777
65992	DDRGK1	HP:0100864	Short femoral neck	-	OMIM:602557
65992	DDRGK1	HP:0002515	Waddling gait	54/102	OMIM:131300
65992	DDRGK1	HP:0001382	Joint hypermobility	-	OMIM:602557
65992	DDRGK1	HP:0001382	Joint hypermobility	-	OMIM:615777
65992	DDRGK1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
65992	DDRGK1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
65992	DDRGK1	HP:0008873	Disproportionate short-limb short stature	7/7	OMIM:602557
65992	DDRGK1	HP:0002663	Delayed epiphyseal ossification	-	OMIM:602557
65992	DDRGK1	HP:0002663	Delayed epiphyseal ossification	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
65992	DDRGK1	HP:0001324	Muscle weakness	40/96	OMIM:131300
65992	DDRGK1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
65992	DDRGK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:602557
65992	DDRGK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
65992	DDRGK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
65992	DDRGK1	HP:0002650	Scoliosis	-	OMIM:602557
65992	DDRGK1	HP:0002650	Scoliosis	12/14	OMIM:131300
65992	DDRGK1	HP:0002650	Scoliosis	HP:0040282	ORPHA:93352
65992	DDRGK1	HP:0002651	Spondyloepimetaphyseal dysplasia	-	OMIM:602557
65992	DDRGK1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
65992	DDRGK1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
65992	DDRGK1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
65992	DDRGK1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
65992	DDRGK1	HP:0000175	Cleft palate	2/7	OMIM:615777
65992	DDRGK1	HP:0025426	Abnormal bronchus morphology	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0002781	Upper airway obstruction	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0002777	Tracheal stenosis	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0003375	Narrow greater sciatic notch	-	OMIM:602557
65992	DDRGK1	HP:0003388	Easy fatigability	36/76	OMIM:131300
65992	DDRGK1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
65992	DDRGK1	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:93352
65992	DDRGK1	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:93352
65992	DDRGK1	HP:0003498	Disproportionate short stature	HP:0040282	ORPHA:93352
65992	DDRGK1	HP:0002240	Hepatomegaly	-	OMIM:602557
65992	DDRGK1	HP:0008417	Vertebral hypoplasia	-	OMIM:602557
65992	DDRGK1	HP:0003510	Severe short stature	7/7	OMIM:615777
65992	DDRGK1	HP:0003510	Severe short stature	HP:0040282	ORPHA:93352
65992	DDRGK1	HP:0002315	Headache	-	OMIM:131300
65992	DDRGK1	HP:0004976	Knee dislocation	6/7	OMIM:615777
65992	DDRGK1	HP:0009826	Limb undergrowth	7/7	OMIM:602557
65992	DDRGK1	HP:0009826	Limb undergrowth	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0009803	Short phalanx of finger	-	OMIM:615777
65992	DDRGK1	HP:0008463	Central vertebral hypoplasia	-	OMIM:602557
65992	DDRGK1	HP:0008463	Central vertebral hypoplasia	HP:0040282	ORPHA:93352
65992	DDRGK1	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:602557
65992	DDRGK1	HP:0008450	Narrow vertebral interpedicular distance	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0009763	Limb pain	63/92	OMIM:131300
65992	DDRGK1	HP:0008418	Squared-off platyspondyly	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0003621	Juvenile onset	-	OMIM:131300
65992	DDRGK1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
65992	DDRGK1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
65992	DDRGK1	HP:6001056	Out-toeing	-	OMIM:131300
65992	DDRGK1	HP:0000651	Diplopia	-	OMIM:131300
65992	DDRGK1	HP:0001956	Truncal obesity	2/7	OMIM:615777
65992	DDRGK1	HP:0001903	Anemia	HP:0040283	OMIM:131300
65992	DDRGK1	HP:0010049	Short metacarpal	-	OMIM:615777
65992	DDRGK1	HP:0000678	Dental crowding	-	OMIM:615777
65992	DDRGK1	HP:0000670	Carious teeth	-	OMIM:131300
65992	DDRGK1	HP:0011304	Broad thumb	2/7	OMIM:615777
65992	DDRGK1	HP:0000668	Hypodontia	-	OMIM:615777
65992	DDRGK1	HP:0000664	Synophrys	-	OMIM:615777
65992	DDRGK1	HP:0030674	Antenatal onset	7/7	OMIM:602557
65992	DDRGK1	HP:0003088	Premature osteoarthritis	HP:0040282	ORPHA:93352
65992	DDRGK1	HP:0004396	Poor appetite	-	OMIM:131300
65992	DDRGK1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
65992	DDRGK1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
65992	DDRGK1	HP:0003015	Flared metaphysis	-	OMIM:602557
65992	DDRGK1	HP:0003015	Flared metaphysis	HP:0040282	ORPHA:93352
65992	DDRGK1	HP:0003016	Metaphyseal widening	HP:0040282	ORPHA:93352
65992	DDRGK1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
65992	DDRGK1	HP:0003026	Short long bone	7/7	OMIM:615777
65992	DDRGK1	HP:0003026	Short long bone	HP:0040282	ORPHA:93352
65992	DDRGK1	HP:0003025	Metaphyseal irregularity	-	OMIM:602557
65992	DDRGK1	HP:0003025	Metaphyseal irregularity	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
65992	DDRGK1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
65992	DDRGK1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
65992	DDRGK1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
65992	DDRGK1	HP:0000750	Delayed speech and language development	-	OMIM:615777
65992	DDRGK1	HP:0011461	Fetal onset	7/7	OMIM:615777
65992	DDRGK1	HP:0000774	Narrow chest	2/7	OMIM:615777
65992	DDRGK1	HP:0000773	Short ribs	-	OMIM:602557
65992	DDRGK1	HP:0000926	Platyspondyly	-	OMIM:602557
65992	DDRGK1	HP:0000926	Platyspondyly	1/7	OMIM:615777
65992	DDRGK1	HP:0000926	Platyspondyly	HP:0040282	ORPHA:93352
65992	DDRGK1	HP:0003180	Flat acetabular roof	-	OMIM:615777
65992	DDRGK1	HP:0004482	Relative macrocephaly	-	OMIM:615777
65992	DDRGK1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
65992	DDRGK1	HP:0003099	Fibular overgrowth	-	OMIM:602557
65992	DDRGK1	HP:0003099	Fibular overgrowth	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0000823	Delayed puberty	-	OMIM:131300
65992	DDRGK1	HP:0000894	Short clavicles	-	OMIM:615777
65992	DDRGK1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
65992	DDRGK1	HP:0003270	Abdominal distention	-	OMIM:602557
65992	DDRGK1	HP:0003270	Abdominal distention	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
65992	DDRGK1	HP:0000286	Epicanthus	1/7	OMIM:615777
65992	DDRGK1	HP:0000280	Coarse facial features	2/7	OMIM:615777
65992	DDRGK1	HP:0001591	Bell-shaped thorax	-	OMIM:602557
65992	DDRGK1	HP:0006462	Generalized bone demineralization	HP:0040282	ORPHA:93352
65992	DDRGK1	HP:0002812	Coxa vara	-	OMIM:602557
65992	DDRGK1	HP:0002829	Arthralgia	HP:0040282	ORPHA:93352
65992	DDRGK1	HP:0002827	Hip dislocation	3/7	OMIM:615777
65992	DDRGK1	HP:0000252	Microcephaly	-	OMIM:615777
65992	DDRGK1	HP:0000233	Thin vermilion border	-	OMIM:602557
65992	DDRGK1	HP:0002857	Genu valgum	-	OMIM:131300
65992	DDRGK1	HP:0001533	Slender build	-	OMIM:131300
65992	DDRGK1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
65992	DDRGK1	HP:0007807	Optic nerve compression	-	OMIM:131300
65992	DDRGK1	HP:0012368	Flat face	7/7	OMIM:615777
65992	DDRGK1	HP:0005257	Thoracic hypoplasia	HP:0040282	ORPHA:93352
65992	DDRGK1	HP:0001609	Hoarse voice	1/7	OMIM:602557
65992	DDRGK1	HP:0001609	Hoarse voice	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0002938	Lumbar hyperlordosis	-	OMIM:602557
65992	DDRGK1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
65992	DDRGK1	HP:0001602	Laryngeal stenosis	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0000365	Hearing impairment	10/67	OMIM:131300
65992	DDRGK1	HP:0000343	Long philtrum	1/7	OMIM:615777
65992	DDRGK1	HP:0011001	Increased bone mineral density	-	OMIM:131300
65992	DDRGK1	HP:0002983	Micromelia	-	OMIM:602557
65992	DDRGK1	HP:0002979	Bowing of the legs	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0000311	Round face	2/7	OMIM:615777
65992	DDRGK1	HP:0002953	Vertebral compression fracture	-	OMIM:602557
65992	DDRGK1	HP:0002953	Vertebral compression fracture	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0002970	Genu varum	-	OMIM:602557
65992	DDRGK1	HP:0002970	Genu varum	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0002970	Genu varum	-	OMIM:615777
65992	DDRGK1	HP:0000303	Mandibular prognathia	-	OMIM:131300
65992	DDRGK1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
65992	DDRGK1	HP:0000470	Short neck	7/7	OMIM:602557
65992	DDRGK1	HP:0000470	Short neck	1/7	OMIM:615777
65992	DDRGK1	HP:0000470	Short neck	HP:0040283	ORPHA:93352
65992	DDRGK1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
65992	DDRGK1	HP:0001763	Pes planus	1/7	OMIM:615777
65992	DDRGK1	HP:0001744	Splenomegaly	-	OMIM:602557
65992	DDRGK1	HP:0001840	Metatarsus adductus	-	OMIM:615777
65992	DDRGK1	HP:0000520	Proptosis	2/4	OMIM:131300
65992	DDRGK1	HP:0000520	Proptosis	7/7	OMIM:615777
65992	DDRGK1	HP:0000592	Blue sclerae	2/7	OMIM:615777
65992	DDRGK1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
65992	DDRGK1	HP:0012514	Lower limb pain	4/4	OMIM:131300
65993	MRPS34	HP:0002490	Increased CSF lactate	3/4	OMIM:617664
65993	MRPS34	HP:0001272	Cerebellar atrophy	1/6	OMIM:617664
65993	MRPS34	HP:0001250	Seizure	1/6	OMIM:617664
65993	MRPS34	HP:0001252	Hypotonia	-	OMIM:617664
65993	MRPS34	HP:0001266	Choreoathetosis	2/6	OMIM:617664
65993	MRPS34	HP:0001263	Global developmental delay	5/6	OMIM:617664
65993	MRPS34	HP:0001257	Spasticity	2/6	OMIM:617664
65993	MRPS34	HP:0002540	Inability to walk	-	OMIM:617664
65993	MRPS34	HP:0000085	Horseshoe kidney	1/6	OMIM:617664
65993	MRPS34	HP:0001347	Hyperreflexia	-	OMIM:617664
65993	MRPS34	HP:0001332	Dystonia	1/6	OMIM:617664
65993	MRPS34	HP:0001344	Absent speech	3/6	OMIM:617664
65993	MRPS34	HP:0000007	Autosomal recessive inheritance	-	OMIM:617664
65993	MRPS34	HP:0001337	Tremor	3/6	OMIM:617664
65993	MRPS34	HP:0002751	Kyphoscoliosis	2/6	OMIM:617664
65993	MRPS34	HP:0002020	Gastroesophageal reflux	1/6	OMIM:617664
65993	MRPS34	HP:0002019	Constipation	3/6	OMIM:617664
65993	MRPS34	HP:0002015	Dysphagia	3/5	OMIM:617664
65993	MRPS34	HP:0002151	Increased circulating lactate concentration	6/6	OMIM:617664
65993	MRPS34	HP:0010535	Sleep apnea	2/6	OMIM:617664
65993	MRPS34	HP:0003593	Infantile onset	5/6	OMIM:617664
65993	MRPS34	HP:0011968	Feeding difficulties	-	OMIM:617664
65993	MRPS34	HP:0002376	Developmental regression	-	OMIM:617664
65993	MRPS34	HP:0003676	Progressive	-	OMIM:617664
65993	MRPS34	HP:0003623	Neonatal onset	1/6	OMIM:617664
65993	MRPS34	HP:0000639	Nystagmus	1/6	OMIM:617664
65993	MRPS34	HP:0000648	Optic atrophy	1/5	OMIM:617664
65993	MRPS34	HP:0012707	Elevated brain lactate level by MRS	1/4	OMIM:617664
65993	MRPS34	HP:0003128	Lactic acidosis	6/6	OMIM:617664
65993	MRPS34	HP:0034392	Joint contracture	3/6	OMIM:617664
65993	MRPS34	HP:0000280	Coarse facial features	2/6	OMIM:617664
65993	MRPS34	HP:0000252	Microcephaly	3/6	OMIM:617664
65993	MRPS34	HP:0001522	Death in infancy	2/6	OMIM:617664
65993	MRPS34	HP:0000486	Strabismus	2/6	OMIM:617664
65993	MRPS34	HP:0000508	Ptosis	1/6	OMIM:617664
65993	MRPS34	HP:0000577	Exotropia	2/6	OMIM:617664
65998	ZFTA	HP:0002460	Distal muscle weakness	HP:0040283	ORPHA:251636
65998	ZFTA	HP:0001288	Gait disturbance	HP:0040283	ORPHA:251636
65998	ZFTA	HP:0001250	Seizure	HP:0040283	ORPHA:251636
65998	ZFTA	HP:0025461	Abnormal cell morphology	HP:0040282	ORPHA:251636
65998	ZFTA	HP:0002013	Vomiting	HP:0040283	ORPHA:251636
65998	ZFTA	HP:0100526	Neoplasm of the lung	HP:0040284	ORPHA:251636
65998	ZFTA	HP:0002076	Migraine	HP:0040282	ORPHA:251636
65998	ZFTA	HP:0100615	Ovarian neoplasm	HP:0040284	ORPHA:251636
65998	ZFTA	HP:0100013	Neoplasm of the breast	HP:0040284	ORPHA:251636
65998	ZFTA	HP:0030693	Supratentorial neoplasm	HP:0040283	ORPHA:251636
65998	ZFTA	HP:0010302	Spinal cord tumor	HP:0040283	ORPHA:251636
65998	ZFTA	HP:0002896	Neoplasm of the liver	HP:0040284	ORPHA:251636
65998	ZFTA	HP:0002888	Ependymoma	HP:0040280	ORPHA:251636
65998	ZFTA	HP:0012534	Dysesthesia	HP:0040283	ORPHA:251636
65998	ZFTA	HP:0012531	Pain	HP:0040282	ORPHA:251636
78987	CRELD1	HP:0001182	Tapered finger	1/18	OMIM:620771
78987	CRELD1	HP:0002445	Tetraplegia	1/18	OMIM:620771
78987	CRELD1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	8/18	OMIM:620771
78987	CRELD1	HP:0007270	Atypical absence seizure	1/18	OMIM:620771
78987	CRELD1	HP:0020221	Clonic seizure	1/18	OMIM:620771
78987	CRELD1	HP:0010862	Delayed fine motor development	18/18	OMIM:620771
78987	CRELD1	HP:0003763	Bruxism	1/18	OMIM:620771
78987	CRELD1	HP:0001269	Hemiparesis	1/18	OMIM:620771
78987	CRELD1	HP:0001288	Gait disturbance	1/1	OMIM:620771
78987	CRELD1	HP:0001252	Hypotonia	17/17	OMIM:620771
78987	CRELD1	HP:0001251	Ataxia	1/18	OMIM:620771
78987	CRELD1	HP:0001263	Global developmental delay	18/18	OMIM:620771
78987	CRELD1	HP:0001257	Spasticity	1/18	OMIM:620771
78987	CRELD1	HP:0007359	Focal-onset seizure	2/2	OMIM:620771
78987	CRELD1	HP:0002540	Inability to walk	6/18	OMIM:620771
78987	CRELD1	HP:0003829	Typified by incomplete penetrance	-	OMIM:606217
78987	CRELD1	HP:0001385	Hip dysplasia	1/18	OMIM:620771
78987	CRELD1	HP:0000023	Inguinal hernia	1/18	OMIM:620771
78987	CRELD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620771
78987	CRELD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:606217
78987	CRELD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
78987	CRELD1	HP:0001336	Myoclonus	5/18	OMIM:620771
78987	CRELD1	HP:0002627	Right aortic arch with mirror image branching	1/3	OMIM:606217
78987	CRELD1	HP:0000194	Open mouth	4/18	OMIM:620771
78987	CRELD1	HP:0000160	Narrow mouth	1/18	OMIM:620771
78987	CRELD1	HP:0001488	Bilateral ptosis	1/18	OMIM:620771
78987	CRELD1	HP:0000175	Cleft palate	3/18	OMIM:620771
78987	CRELD1	HP:0008936	Axial hypotonia	1/18	OMIM:620771
78987	CRELD1	HP:0000122	Unilateral renal agenesis	1/18	OMIM:620771
78987	CRELD1	HP:0025406	Asthenia	1/18	OMIM:620771
78987	CRELD1	HP:0002751	Kyphoscoliosis	1/18	OMIM:620771
78987	CRELD1	HP:0002719	Recurrent infections	1/18	OMIM:620771
78987	CRELD1	HP:0002714	Downturned corners of mouth	2/18	OMIM:620771
78987	CRELD1	HP:0002045	Hypothermia	1/18	OMIM:620771
78987	CRELD1	HP:0002058	Myopathic facies	4/18	OMIM:620771
78987	CRELD1	HP:0002133	Status epilepticus	6/18	OMIM:620771
78987	CRELD1	HP:0004756	Ventricular tachycardia	1/18	OMIM:620771
78987	CRELD1	HP:0002197	Generalized-onset seizure	3/3	OMIM:620771
78987	CRELD1	HP:0002194	Delayed gross motor development	16/18	OMIM:620771
78987	CRELD1	HP:0002169	Clonus	1/18	OMIM:620771
78987	CRELD1	HP:0003593	Infantile onset	15/18	OMIM:620771
78987	CRELD1	HP:0003577	Congenital onset	3/3	OMIM:606217
78987	CRELD1	HP:0011968	Feeding difficulties	3/3	OMIM:620771
78987	CRELD1	HP:0002384	Focal impaired awareness seizure	1/18	OMIM:620771
78987	CRELD1	HP:0001028	Hemangioma	1/18	OMIM:620771
78987	CRELD1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2/18	OMIM:620771
78987	CRELD1	HP:0010819	Atonic seizure	3/18	OMIM:620771
78987	CRELD1	HP:0200055	Small hand	2/18	OMIM:620771
78987	CRELD1	HP:0033454	Tube feeding	8/18	OMIM:620771
78987	CRELD1	HP:0003623	Neonatal onset	2/18	OMIM:620771
78987	CRELD1	HP:0004935	Pulmonary artery atresia	1/3	OMIM:606217
78987	CRELD1	HP:0020152	Distal joint hypermobility	1/18	OMIM:620771
78987	CRELD1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
78987	CRELD1	HP:0000639	Nystagmus	2/18	OMIM:620771
78987	CRELD1	HP:0000637	Long palpebral fissure	4/18	OMIM:620771
78987	CRELD1	HP:0004322	Short stature	2/18	OMIM:620771
78987	CRELD1	HP:0003072	Hypercalcemia	2/18	OMIM:620771
78987	CRELD1	HP:0003065	Patellar hypoplasia	1/18	OMIM:620771
78987	CRELD1	HP:0400000	Tall chin	2/18	OMIM:620771
78987	CRELD1	HP:0000767	Pectus excavatum	1/18	OMIM:620771
78987	CRELD1	HP:0000750	Delayed speech and language development	17/18	OMIM:620771
78987	CRELD1	HP:0011463	Childhood onset	1/18	OMIM:620771
78987	CRELD1	HP:0004467	Preauricular pit	-	OMIM:187500
78987	CRELD1	HP:0004467	Preauricular pit	1/18	OMIM:620771
78987	CRELD1	HP:0000821	Hypothyroidism	2/18	OMIM:620771
78987	CRELD1	HP:0011577	Partial atrioventricular canal defect	3/3	OMIM:606217
78987	CRELD1	HP:0003228	Hypernatremia	1/18	OMIM:620771
78987	CRELD1	HP:0045074	Thin eyebrow	1/18	OMIM:620771
78987	CRELD1	HP:0011675	Arrhythmia	1/1	OMIM:620771
78987	CRELD1	HP:0000280	Coarse facial features	1/18	OMIM:620771
78987	CRELD1	HP:0001596	Alopecia	1/18	OMIM:620771
78987	CRELD1	HP:0000256	Macrocephaly	2/18	OMIM:620771
78987	CRELD1	HP:0000272	Malar flattening	1/18	OMIM:620771
78987	CRELD1	HP:0000252	Microcephaly	6/18	OMIM:620771
78987	CRELD1	HP:0000248	Brachycephaly	1/18	OMIM:620771
78987	CRELD1	HP:0000218	High palate	1/18	OMIM:620771
78987	CRELD1	HP:0001562	Oligohydramnios	2/18	OMIM:620771
78987	CRELD1	HP:0001561	Polyhydramnios	1/18	OMIM:620771
78987	CRELD1	HP:0001558	Decreased fetal movement	1/18	OMIM:620771
78987	CRELD1	HP:0001531	Failure to thrive in infancy	6/18	OMIM:620771
78987	CRELD1	HP:0002870	Obstructive sleep apnea	3/18	OMIM:620771
78987	CRELD1	HP:0012389	Appendicular hypotonia	0/17	OMIM:620771
78987	CRELD1	HP:0012393	Allergy	1/18	OMIM:620771
78987	CRELD1	HP:0001695	Cardiac arrest	1/18	OMIM:620771
78987	CRELD1	HP:0000358	Posteriorly rotated ears	1/18	OMIM:620771
78987	CRELD1	HP:0000369	Low-set ears	1/18	OMIM:620771
78987	CRELD1	HP:0000341	Narrow forehead	2/18	OMIM:620771
78987	CRELD1	HP:0000340	Sloping forehead	1/18	OMIM:620771
78987	CRELD1	HP:0012332	Abnormal autonomic nervous system physiology	1/18	OMIM:620771
78987	CRELD1	HP:0000337	Broad forehead	-	OMIM:187500
78987	CRELD1	HP:0000336	Prominent supraorbital ridges	2/18	OMIM:620771
78987	CRELD1	HP:0000347	Micrognathia	2/18	OMIM:620771
78987	CRELD1	HP:0001651	Dextrocardia	1/3	OMIM:606217
78987	CRELD1	HP:0032794	Myoclonic seizure	8/18	OMIM:620771
78987	CRELD1	HP:0001662	Bradycardia	2/18	OMIM:620771
78987	CRELD1	HP:0000322	Short philtrum	1/18	OMIM:620771
78987	CRELD1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
78987	CRELD1	HP:0000307	Pointed chin	2/18	OMIM:620771
78987	CRELD1	HP:0000303	Mandibular prognathia	2/18	OMIM:620771
78987	CRELD1	HP:0032988	Persistent head lag	1/18	OMIM:620771
78987	CRELD1	HP:0001733	Pancreatitis	1/18	OMIM:620771
78987	CRELD1	HP:0005280	Depressed nasal bridge	1/18	OMIM:620771
78987	CRELD1	HP:0000483	Astigmatism	1/18	OMIM:620771
78987	CRELD1	HP:0000486	Strabismus	4/4	OMIM:620771
78987	CRELD1	HP:0012466	Chronic respiratory acidosis	1/18	OMIM:620771
78987	CRELD1	HP:0012469	Infantile spasms	2/18	OMIM:620771
78987	CRELD1	HP:0012448	Delayed myelination	1/18	OMIM:620771
78987	CRELD1	HP:0001773	Short foot	1/18	OMIM:620771
78987	CRELD1	HP:0000445	Wide nose	1/18	OMIM:620771
78987	CRELD1	HP:0012408	Medullary nephrocalcinosis	1/18	OMIM:620771
78987	CRELD1	HP:0031728	Mild hypermetropia	2/18	OMIM:620771
78987	CRELD1	HP:0005487	Prominent metopic ridge	1/18	OMIM:620771
78987	CRELD1	HP:0000520	Proptosis	-	OMIM:187500
78987	CRELD1	HP:0000520	Proptosis	2/18	OMIM:620771
78987	CRELD1	HP:0000508	Ptosis	1/1	OMIM:620771
78987	CRELD1	HP:0000577	Exotropia	1/18	OMIM:620771
78987	CRELD1	HP:0011220	Prominent forehead	1/18	OMIM:620771
78987	CRELD1	HP:0000565	Esotropia	4/18	OMIM:620771
78987	CRELD1	HP:0000540	Hypermetropia	1/1	OMIM:620771
78987	CRELD1	HP:0012523	Oral aversion	1/18	OMIM:620771
78987	CRELD1	HP:0001873	Thrombocytopenia	1/18	OMIM:620771
78987	CRELD1	HP:0000545	Myopia	1/18	OMIM:620771
78987	CRELD1	HP:0001875	Decreased total neutrophil count	1/18	OMIM:620771
78989	COLEC11	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
78989	COLEC11	HP:0001293	Cranial nerve compression	-	OMIM:131300
78989	COLEC11	HP:0001252	Hypotonia	2/7	OMIM:615777
78989	COLEC11	HP:0001249	Intellectual disability	7/10	OMIM:265050
78989	COLEC11	HP:0001249	Intellectual disability	5/7	OMIM:615777
78989	COLEC11	HP:0001249	Intellectual disability	HP:0040282	ORPHA:293843
78989	COLEC11	HP:0001263	Global developmental delay	-	OMIM:265050
78989	COLEC11	HP:0001263	Global developmental delay	-	OMIM:615777
78989	COLEC11	HP:0002558	Supernumerary nipple	HP:0040282	ORPHA:293843
78989	COLEC11	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:293843
78989	COLEC11	HP:0002553	Highly arched eyebrow	10/10	OMIM:265050
78989	COLEC11	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:293843
78989	COLEC11	HP:0002515	Waddling gait	54/102	OMIM:131300
78989	COLEC11	HP:0000085	Horseshoe kidney	HP:0040283	OMIM:265050
78989	COLEC11	HP:0001382	Joint hypermobility	-	OMIM:265050
78989	COLEC11	HP:0001382	Joint hypermobility	-	OMIM:615777
78989	COLEC11	HP:0000047	Hypospadias	HP:0040283	OMIM:265050
78989	COLEC11	HP:0002678	Skull asymmetry	6/10	OMIM:265050
78989	COLEC11	HP:0001363	Craniosynostosis	6/10	OMIM:265050
78989	COLEC11	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:293843
78989	COLEC11	HP:0002694	Sclerosis of skull base	-	OMIM:131300
78989	COLEC11	HP:0000028	Cryptorchidism	-	OMIM:265050
78989	COLEC11	HP:0008897	Postnatal growth retardation	7/10	OMIM:265050
78989	COLEC11	HP:0008897	Postnatal growth retardation	-	OMIM:615777
78989	COLEC11	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:293843
78989	COLEC11	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
78989	COLEC11	HP:0001324	Muscle weakness	40/96	OMIM:131300
78989	COLEC11	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
78989	COLEC11	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
78989	COLEC11	HP:0000007	Autosomal recessive inheritance	-	OMIM:265050
78989	COLEC11	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
78989	COLEC11	HP:0002650	Scoliosis	12/14	OMIM:131300
78989	COLEC11	HP:0002650	Scoliosis	HP:0040282	ORPHA:293843
78989	COLEC11	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
78989	COLEC11	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
78989	COLEC11	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
78989	COLEC11	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
78989	COLEC11	HP:0000175	Cleft palate	4/10	OMIM:265050
78989	COLEC11	HP:0000175	Cleft palate	2/7	OMIM:615777
78989	COLEC11	HP:0002714	Downturned corners of mouth	-	OMIM:265050
78989	COLEC11	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:293843
78989	COLEC11	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:293843
78989	COLEC11	HP:0003388	Easy fatigability	36/76	OMIM:131300
78989	COLEC11	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
78989	COLEC11	HP:0003468	Abnormal vertebral morphology	-	OMIM:265050
78989	COLEC11	HP:0002265	Large fleshy ears	HP:0040282	ORPHA:293843
78989	COLEC11	HP:0003577	Congenital onset	10/10	OMIM:265050
78989	COLEC11	HP:0003510	Severe short stature	7/7	OMIM:615777
78989	COLEC11	HP:0002315	Headache	-	OMIM:131300
78989	COLEC11	HP:0004976	Knee dislocation	6/7	OMIM:615777
78989	COLEC11	HP:0009803	Short phalanx of finger	-	OMIM:615777
78989	COLEC11	HP:0010759	Prominence of the premaxilla	-	OMIM:265050
78989	COLEC11	HP:0009763	Limb pain	63/92	OMIM:131300
78989	COLEC11	HP:0003621	Juvenile onset	-	OMIM:131300
78989	COLEC11	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
78989	COLEC11	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
78989	COLEC11	HP:6001056	Out-toeing	-	OMIM:131300
78989	COLEC11	HP:0000651	Diplopia	-	OMIM:131300
78989	COLEC11	HP:0001956	Truncal obesity	2/7	OMIM:615777
78989	COLEC11	HP:0001903	Anemia	HP:0040283	OMIM:131300
78989	COLEC11	HP:0010049	Short metacarpal	-	OMIM:615777
78989	COLEC11	HP:0000678	Dental crowding	-	OMIM:615777
78989	COLEC11	HP:0009004	Hypoplasia of the musculature	-	OMIM:265050
78989	COLEC11	HP:0000670	Carious teeth	-	OMIM:131300
78989	COLEC11	HP:0011304	Broad thumb	2/7	OMIM:615777
78989	COLEC11	HP:0000668	Hypodontia	-	OMIM:615777
78989	COLEC11	HP:0000664	Synophrys	-	OMIM:615777
78989	COLEC11	HP:0004396	Poor appetite	-	OMIM:131300
78989	COLEC11	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
78989	COLEC11	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
78989	COLEC11	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
78989	COLEC11	HP:0003026	Short long bone	7/7	OMIM:615777
78989	COLEC11	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
78989	COLEC11	HP:0000767	Pectus excavatum	2/7	OMIM:615777
78989	COLEC11	HP:0000768	Pectus carinatum	1/7	OMIM:615777
78989	COLEC11	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
78989	COLEC11	HP:0000750	Delayed speech and language development	-	OMIM:615777
78989	COLEC11	HP:0011461	Fetal onset	7/7	OMIM:615777
78989	COLEC11	HP:0000774	Narrow chest	2/7	OMIM:615777
78989	COLEC11	HP:0000925	Abnormality of the vertebral column	-	OMIM:265050
78989	COLEC11	HP:0000926	Platyspondyly	1/7	OMIM:615777
78989	COLEC11	HP:0003180	Flat acetabular roof	-	OMIM:615777
78989	COLEC11	HP:0004482	Relative macrocephaly	-	OMIM:615777
78989	COLEC11	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
78989	COLEC11	HP:0000823	Delayed puberty	-	OMIM:131300
78989	COLEC11	HP:0040016	Prominent coccyx	HP:0040283	ORPHA:293843
78989	COLEC11	HP:0000894	Short clavicles	-	OMIM:615777
78989	COLEC11	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
78989	COLEC11	HP:0003298	Spina bifida occulta	HP:0040282	ORPHA:293843
78989	COLEC11	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
78989	COLEC11	HP:0000286	Epicanthus	1/7	OMIM:615777
78989	COLEC11	HP:0000280	Coarse facial features	2/7	OMIM:615777
78989	COLEC11	HP:0000289	Broad philtrum	-	OMIM:265050
78989	COLEC11	HP:0005105	Abnormal nasal morphology	HP:0040283	ORPHA:293843
78989	COLEC11	HP:0002827	Hip dislocation	-	OMIM:265050
78989	COLEC11	HP:0002827	Hip dislocation	3/7	OMIM:615777
78989	COLEC11	HP:0002827	Hip dislocation	HP:0040283	ORPHA:293843
78989	COLEC11	HP:0002825	Caudal appendage	2/10	OMIM:265050
78989	COLEC11	HP:0002825	Caudal appendage	HP:0040283	ORPHA:293843
78989	COLEC11	HP:0006394	Limited pronation/supination of forearm	HP:0040281	ORPHA:293843
78989	COLEC11	HP:0000252	Microcephaly	-	OMIM:615777
78989	COLEC11	HP:0000218	High palate	2/10	OMIM:265050
78989	COLEC11	HP:0002857	Genu valgum	-	OMIM:131300
78989	COLEC11	HP:0001540	Diastasis recti	HP:0040282	ORPHA:293843
78989	COLEC11	HP:0001540	Diastasis recti	4/10	OMIM:265050
78989	COLEC11	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:293843
78989	COLEC11	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:293843
78989	COLEC11	HP:0001533	Slender build	-	OMIM:131300
78989	COLEC11	HP:0000204	Cleft upper lip	4/10	OMIM:265050
78989	COLEC11	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
78989	COLEC11	HP:0007807	Optic nerve compression	-	OMIM:131300
78989	COLEC11	HP:0012368	Flat face	7/7	OMIM:615777
78989	COLEC11	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:293843
78989	COLEC11	HP:0005243	Partial abdominal muscle agenesis	-	OMIM:265050
78989	COLEC11	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
78989	COLEC11	HP:0000365	Hearing impairment	10/67	OMIM:131300
78989	COLEC11	HP:0000365	Hearing impairment	6/10	OMIM:265050
78989	COLEC11	HP:0000365	Hearing impairment	HP:0040281	ORPHA:293843
78989	COLEC11	HP:0000369	Low-set ears	HP:0040283	ORPHA:293843
78989	COLEC11	HP:0000343	Long philtrum	1/7	OMIM:615777
78989	COLEC11	HP:0011001	Increased bone mineral density	-	OMIM:131300
78989	COLEC11	HP:0000337	Broad forehead	-	OMIM:265050
78989	COLEC11	HP:0002996	Limited elbow movement	4/10	OMIM:265050
78989	COLEC11	HP:0000316	Hypertelorism	10/10	OMIM:265050
78989	COLEC11	HP:0000316	Hypertelorism	HP:0040282	ORPHA:293843
78989	COLEC11	HP:0000311	Round face	2/7	OMIM:615777
78989	COLEC11	HP:0002974	Radioulnar synostosis	4/10	OMIM:265050
78989	COLEC11	HP:0002974	Radioulnar synostosis	HP:0040281	ORPHA:293843
78989	COLEC11	HP:0002970	Genu varum	-	OMIM:615777
78989	COLEC11	HP:0000303	Mandibular prognathia	-	OMIM:131300
78989	COLEC11	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
78989	COLEC11	HP:0000486	Strabismus	-	OMIM:265050
78989	COLEC11	HP:0000494	Downslanted palpebral fissures	-	OMIM:265050
78989	COLEC11	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:293843
78989	COLEC11	HP:0000473	Torticollis	-	OMIM:265050
78989	COLEC11	HP:0000470	Short neck	1/7	OMIM:615777
78989	COLEC11	HP:0000437	Depressed nasal tip	-	OMIM:265050
78989	COLEC11	HP:0001769	Broad foot	HP:0040283	OMIM:615777
78989	COLEC11	HP:0001763	Pes planus	1/7	OMIM:615777
78989	COLEC11	HP:0000431	Wide nasal bridge	-	OMIM:265050
78989	COLEC11	HP:0000426	Prominent nasal bridge	-	OMIM:265050
78989	COLEC11	HP:0001840	Metatarsus adductus	-	OMIM:615777
78989	COLEC11	HP:0000520	Proptosis	2/4	OMIM:131300
78989	COLEC11	HP:0000520	Proptosis	7/7	OMIM:615777
78989	COLEC11	HP:0000506	Telecanthus	HP:0040282	ORPHA:293843
78989	COLEC11	HP:0000508	Ptosis	10/10	OMIM:265050
78989	COLEC11	HP:0000508	Ptosis	HP:0040281	ORPHA:293843
78989	COLEC11	HP:0000581	Blepharophimosis	-	OMIM:265050
78989	COLEC11	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:293843
78989	COLEC11	HP:0000593	Abnormal anterior chamber morphology	HP:0040282	ORPHA:293843
78989	COLEC11	HP:0000592	Blue sclerae	2/7	OMIM:615777
78989	COLEC11	HP:0000537	Epicanthus inversus	-	OMIM:265050
78989	COLEC11	HP:0000537	Epicanthus inversus	HP:0040281	ORPHA:293843
78989	COLEC11	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
78989	COLEC11	HP:0012514	Lower limb pain	4/4	OMIM:131300
78995	HROB	HP:0000007	Autosomal recessive inheritance	-	OMIM:620897
78995	HROB	HP:0031103	Decreased circulating antimullerian hormone circulation	2/2	OMIM:620897
78995	HROB	HP:0010463	Aplasia of the ovary	2/2	OMIM:620897
78995	HROB	HP:0008232	Elevated circulating follicle stimulating hormone level	3/3	OMIM:620897
78995	HROB	HP:0008214	Decreased serum estradiol	1/1	OMIM:620897
78995	HROB	HP:0011969	Elevated circulating luteinizing hormone level	2/2	OMIM:620897
78995	HROB	HP:0003621	Juvenile onset	2/2	OMIM:620897
78995	HROB	HP:0000786	Primary amenorrhea	1/3	OMIM:620897
78995	HROB	HP:0000823	Delayed puberty	1/1	OMIM:620897
78995	HROB	HP:0025708	Early young adult onset	1/1	OMIM:620897
78995	HROB	HP:0012569	Delayed menarche	2/3	OMIM:620897
79001	VKORC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:607473
79001	VKORC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:122700
79001	VKORC1	HP:0008169	Reduced factor VII activity	-	OMIM:607473
79001	VKORC1	HP:0011858	Reduced factor IX activity	-	OMIM:607473
79001	VKORC1	HP:0008321	Reduced factor X activity	-	OMIM:607473
79001	VKORC1	HP:0040250	Reduced prothrombin antigen	-	OMIM:607473
79001	VKORC1	HP:0001892	Abnormal bleeding	-	OMIM:607473
79001	VKORC1	HP:0001871	Abnormality of blood and blood-forming tissues	-	OMIM:122700
79005	SCNM1	HP:0001162	Postaxial hand polydactyly	4/4	OMIM:620107
79005	SCNM1	HP:6000569	Midline notching of lower lip	-	OMIM:620107
79005	SCNM1	HP:0009928	Thick nasal alae	1/4	OMIM:620107
79005	SCNM1	HP:0008577	Underfolded helix	1/4	OMIM:620107
79005	SCNM1	HP:0001249	Intellectual disability	0/3	OMIM:620107
79005	SCNM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620107
79005	SCNM1	HP:0000189	Narrow palate	3/4	OMIM:620107
79005	SCNM1	HP:0000185	Cleft soft palate	1/4	OMIM:620107
79005	SCNM1	HP:0000180	Lobulated tongue	3/4	OMIM:620107
79005	SCNM1	HP:0000199	Tongue nodules	4/4	OMIM:620107
79005	SCNM1	HP:0000191	Accessory oral frenulum	3/4	OMIM:620107
79005	SCNM1	HP:0000160	Narrow mouth	2/4	OMIM:620107
79005	SCNM1	HP:0002714	Downturned corners of mouth	3/4	OMIM:620107
79005	SCNM1	HP:0002000	Short columella	1/4	OMIM:620107
79005	SCNM1	HP:0002007	Frontal bossing	1/4	OMIM:620107
79005	SCNM1	HP:0002162	Low posterior hairline	1/4	OMIM:620107
79005	SCNM1	HP:0011823	Chin with horizontal crease	4/4	OMIM:620107
79005	SCNM1	HP:0003577	Congenital onset	4/4	OMIM:620107
79005	SCNM1	HP:0010055	Broad hallux	3/4	OMIM:620107
79005	SCNM1	HP:0000691	Microdontia	1/4	OMIM:620107
79005	SCNM1	HP:0000670	Carious teeth	1/4	OMIM:620107
79005	SCNM1	HP:0000668	Hypodontia	3/4	OMIM:620107
79005	SCNM1	HP:0000750	Delayed speech and language development	2/4	OMIM:620107
79005	SCNM1	HP:0009370	Type A brachydactyly	4/4	OMIM:620107
79005	SCNM1	HP:0000286	Epicanthus	3/4	OMIM:620107
79005	SCNM1	HP:0000278	Retrognathia	4/4	OMIM:620107
79005	SCNM1	HP:0000268	Dolichocephaly	1/4	OMIM:620107
79005	SCNM1	HP:0000218	High palate	3/4	OMIM:620107
79005	SCNM1	HP:0000378	Cupped ear	1/4	OMIM:620107
79005	SCNM1	HP:0000369	Low-set ears	3/4	OMIM:620107
79005	SCNM1	HP:0000337	Broad forehead	1/4	OMIM:620107
79005	SCNM1	HP:0000348	High forehead	2/4	OMIM:620107
79005	SCNM1	HP:0000316	Hypertelorism	2/4	OMIM:620107
79005	SCNM1	HP:0000486	Strabismus	2/4	OMIM:620107
79005	SCNM1	HP:0000494	Downslanted palpebral fissures	1/4	OMIM:620107
79005	SCNM1	HP:0000456	Bifid nasal tip	1/4	OMIM:620107
79005	SCNM1	HP:0001770	Toe syndactyly	4/4	OMIM:620107
79005	SCNM1	HP:0000431	Wide nasal bridge	4/4	OMIM:620107
79005	SCNM1	HP:0000430	Underdeveloped nasal alae	1/4	OMIM:620107
79005	SCNM1	HP:0001830	Postaxial foot polydactyly	4/4	OMIM:620107
79005	SCNM1	HP:0000582	Upslanted palpebral fissure	1/4	OMIM:620107
79005	SCNM1	HP:0011235	Additional crus of antihelix	1/4	OMIM:620107
79023	NUP37	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
79023	NUP37	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
79023	NUP37	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
79023	NUP37	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
79023	NUP37	HP:0001249	Intellectual disability	3/3	OMIM:618179
79023	NUP37	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
79023	NUP37	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
79023	NUP37	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
79023	NUP37	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
79023	NUP37	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
79023	NUP37	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
79023	NUP37	HP:0000007	Autosomal recessive inheritance	-	OMIM:618179
79023	NUP37	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
79023	NUP37	HP:0001320	Cerebellar vermis hypoplasia	3/3	OMIM:618179
79023	NUP37	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
79023	NUP37	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
79023	NUP37	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
79023	NUP37	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
79023	NUP37	HP:0003577	Congenital onset	3/3	OMIM:618179
79023	NUP37	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
79023	NUP37	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
79023	NUP37	HP:0002315	Headache	HP:0040283	ORPHA:656
79023	NUP37	HP:0004209	Clinodactyly of the 5th finger	3/3	OMIM:618179
79023	NUP37	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
79023	NUP37	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
79023	NUP37	HP:0001945	Fever	HP:0040283	ORPHA:656
79023	NUP37	HP:0004322	Short stature	HP:0040281	ORPHA:2512
79023	NUP37	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
79023	NUP37	HP:0000737	Irritability	HP:0040283	ORPHA:656
79023	NUP37	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
79023	NUP37	HP:0011451	Primary microcephaly	3/3	OMIM:618179
79023	NUP37	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
79023	NUP37	HP:0000969	Edema	HP:0040281	ORPHA:656
79023	NUP37	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
79023	NUP37	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
79023	NUP37	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
79023	NUP37	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
79023	NUP37	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
79023	NUP37	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
79023	NUP37	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
79029	AFG2B	HP:0100952	Enlarged sylvian cistern	-	OMIM:619616
79029	AFG2B	HP:0001250	Seizure	13/18	OMIM:619616
79029	AFG2B	HP:0001250	Seizure	0/22	OMIM:619615
79029	AFG2B	HP:0001252	Hypotonia	13/17	OMIM:619616
79029	AFG2B	HP:0001249	Intellectual disability	-	OMIM:619616
79029	AFG2B	HP:0001249	Intellectual disability	0/22	OMIM:619615
79029	AFG2B	HP:0001263	Global developmental delay	18/18	OMIM:619616
79029	AFG2B	HP:0001263	Global developmental delay	0/22	OMIM:619615
79029	AFG2B	HP:0001257	Spasticity	17/25	OMIM:619616
79029	AFG2B	HP:0007359	Focal-onset seizure	4/25	OMIM:619616
79029	AFG2B	HP:0002510	Spastic tetraplegia	12/14	OMIM:619616
79029	AFG2B	HP:0001332	Dystonia	15/25	OMIM:619616
79029	AFG2B	HP:0000007	Autosomal recessive inheritance	-	OMIM:619616
79029	AFG2B	HP:0000007	Autosomal recessive inheritance	-	OMIM:619615
79029	AFG2B	HP:0002650	Scoliosis	7/25	OMIM:619616
79029	AFG2B	HP:0002069	Bilateral tonic-clonic seizure	11/25	OMIM:619616
79029	AFG2B	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:619616
79029	AFG2B	HP:0002121	Generalized non-motor (absence) seizure	3/25	OMIM:619616
79029	AFG2B	HP:0003593	Infantile onset	-	OMIM:619616
79029	AFG2B	HP:0003577	Congenital onset	1/3	OMIM:619615
79029	AFG2B	HP:0100704	Cerebral visual impairment	15/25	OMIM:619616
79029	AFG2B	HP:0006970	Periventricular leukomalacia	-	OMIM:619616
79029	AFG2B	HP:0011463	Childhood onset	2/3	OMIM:619615
79029	AFG2B	HP:0000294	Low anterior hairline	1/25	OMIM:619616
79029	AFG2B	HP:0000252	Microcephaly	13/25	OMIM:619616
79029	AFG2B	HP:0000218	High palate	1/25	OMIM:619616
79029	AFG2B	HP:0000215	Thick upper lip vermilion	1/25	OMIM:619616
79029	AFG2B	HP:0011099	Spastic hemiparesis	1/14	OMIM:619616
79029	AFG2B	HP:0000341	Narrow forehead	1/25	OMIM:619616
79029	AFG2B	HP:0000347	Micrognathia	1/25	OMIM:619616
79029	AFG2B	HP:0032794	Myoclonic seizure	7/25	OMIM:619616
79029	AFG2B	HP:0000407	Sensorineural hearing impairment	22/22	OMIM:619615
79029	AFG2B	HP:0005280	Depressed nasal bridge	1/25	OMIM:619616
79029	AFG2B	HP:0012469	Infantile spasms	4/25	OMIM:619616
79029	AFG2B	HP:0000494	Downslanted palpebral fissures	2/25	OMIM:619616
79029	AFG2B	HP:0000506	Telecanthus	1/25	OMIM:619616
79042	TSEN34	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040283	ORPHA:2524
79042	TSEN34	HP:0001270	Motor delay	HP:0040282	ORPHA:2524
79042	TSEN34	HP:0001250	Seizure	HP:0040281	ORPHA:2524
79042	TSEN34	HP:0001266	Choreoathetosis	HP:0040281	ORPHA:2524
79042	TSEN34	HP:0001257	Spasticity	HP:0040283	ORPHA:2524
79042	TSEN34	HP:0002536	Abnormal cortical gyration	HP:0040283	ORPHA:2524
79042	TSEN34	HP:0031162	Impaired oropharyngeal swallow response	HP:0040281	ORPHA:2524
79042	TSEN34	HP:0001332	Dystonia	-	OMIM:612390
79042	TSEN34	HP:0000007	Autosomal recessive inheritance	-	OMIM:612390
79042	TSEN34	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:612390
79042	TSEN34	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:2524
79042	TSEN34	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:2524
79042	TSEN34	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:2524
79042	TSEN34	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:2524
79042	TSEN34	HP:0007598	Bilateral single transverse palmar creases	HP:0040283	ORPHA:2524
79042	TSEN34	HP:0002719	Recurrent infections	HP:0040282	ORPHA:2524
79042	TSEN34	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2524
79042	TSEN34	HP:0002033	Poor suck	HP:0040282	ORPHA:2524
79042	TSEN34	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2524
79042	TSEN34	HP:0002072	Chorea	-	OMIM:612390
79042	TSEN34	HP:0003487	Babinski sign	HP:0040283	ORPHA:2524
79042	TSEN34	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:2524
79042	TSEN34	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:2524
79042	TSEN34	HP:0002104	Apnea	HP:0040282	ORPHA:2524
79042	TSEN34	HP:0002268	Paroxysmal dystonia	HP:0040282	ORPHA:2524
79042	TSEN34	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:2524
79042	TSEN34	HP:0003558	Viral infection-induced rhabdomyolysis	HP:0040283	ORPHA:2524
79042	TSEN34	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:2524
79042	TSEN34	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:2524
79042	TSEN34	HP:0002365	Hypoplasia of the brainstem	HP:0040282	ORPHA:2524
79042	TSEN34	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:2524
79042	TSEN34	HP:0002350	Cerebellar cyst	HP:0040284	ORPHA:2524
79042	TSEN34	HP:0200049	Upper limb hypertonia	HP:0040283	ORPHA:2524
79042	TSEN34	HP:0006850	Hypoplasia of the ventral pons	HP:0040281	ORPHA:2524
79042	TSEN34	HP:0006895	Lower limb hypertonia	HP:0040283	ORPHA:2524
79042	TSEN34	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:2524
79042	TSEN34	HP:0001999	Abnormal facial shape	-	ORPHA:2524
79042	TSEN34	HP:0006989	Dysplastic corpus callosum	HP:0040283	ORPHA:2524
79042	TSEN34	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:2524
79042	TSEN34	HP:0012765	Widened cerebellar subarachnoid space	HP:0040283	ORPHA:2524
79042	TSEN34	HP:0100307	Cerebellar hemisphere hypoplasia	-	OMIM:612390
79042	TSEN34	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:2524
79042	TSEN34	HP:0000252	Microcephaly	-	OMIM:612390
79042	TSEN34	HP:0000340	Sloping forehead	HP:0040282	ORPHA:2524
79042	TSEN34	HP:0011171	Simple febrile seizure	HP:0040283	ORPHA:2524
79042	TSEN34	HP:0012469	Infantile spasms	HP:0040282	ORPHA:2524
79042	TSEN34	HP:0000505	Visual impairment	-	OMIM:612390
79048	SECISBP2	HP:0032210	Decreased circulating free T3	HP:0040282	ORPHA:171706
79048	SECISBP2	HP:0032210	Decreased circulating free T3	4/4	OMIM:609698
79048	SECISBP2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:171706
79048	SECISBP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:609698
79048	SECISBP2	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040283	ORPHA:171706
79048	SECISBP2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:171706
79048	SECISBP2	HP:0002750	Delayed skeletal maturation	2/4	OMIM:609698
79048	SECISBP2	HP:0003391	Gowers sign	HP:0040283	ORPHA:171706
79048	SECISBP2	HP:0003623	Neonatal onset	1/1	OMIM:609698
79048	SECISBP2	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:171706
79048	SECISBP2	HP:0004322	Short stature	HP:0040283	ORPHA:171706
79048	SECISBP2	HP:0004322	Short stature	2/4	OMIM:609698
79048	SECISBP2	HP:0031903	Abnormal circulating selenium concentration	HP:0040283	ORPHA:171706
79048	SECISBP2	HP:0000736	Short attention span	HP:0040283	ORPHA:171706
79048	SECISBP2	HP:0003162	Fasting hypoglycemia	HP:0040283	ORPHA:171706
79048	SECISBP2	HP:0000821	Hypothyroidism	0/4	OMIM:609698
79048	SECISBP2	HP:0040214	Abnormal circulating insulin concentration	HP:0040283	ORPHA:171706
79048	SECISBP2	HP:0033077	Increased circulating free T4 concentration	4/4	OMIM:609698
79048	SECISBP2	HP:0001510	Growth delay	HP:0040283	ORPHA:171706
79048	SECISBP2	HP:0001513	Obesity	HP:0040283	ORPHA:171706
79048	SECISBP2	HP:0031506	Increased circulating T4 concentration	HP:0040282	ORPHA:171706
79048	SECISBP2	HP:0031506	Increased circulating T4 concentration	4/4	OMIM:609698
79048	SECISBP2	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:171706
79048	SECISBP2	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	HP:0040282	ORPHA:171706
79048	SECISBP2	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	4/4	OMIM:609698
79048	SECISBP2	HP:0000508	Ptosis	HP:0040283	ORPHA:171706
79048	SECISBP2	HP:0012548	Fatty replacement of skeletal muscle	HP:0040283	ORPHA:171706
79053	ALG8	HP:0001156	Brachydactyly	HP:0040283	ORPHA:79325
79053	ALG8	HP:0002415	Leukodystrophy	HP:0040283	ORPHA:79325
79053	ALG8	HP:0001250	Seizure	HP:0040282	ORPHA:79325
79053	ALG8	HP:0001252	Hypotonia	3/3	OMIM:608104
79053	ALG8	HP:0001252	Hypotonia	HP:0040281	ORPHA:79325
79053	ALG8	HP:0001251	Ataxia	HP:0040283	ORPHA:79325
79053	ALG8	HP:0001263	Global developmental delay	HP:0040282	ORPHA:79325
79053	ALG8	HP:0003811	Neonatal death	1/3	OMIM:608104
79053	ALG8	HP:0001396	Cholestasis	1/3	OMIM:608104
79053	ALG8	HP:0000028	Cryptorchidism	1/2	OMIM:608104
79053	ALG8	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:2924
79053	ALG8	HP:0000007	Autosomal recessive inheritance	-	OMIM:608104
79053	ALG8	HP:0000006	Autosomal dominant inheritance	-	OMIM:617874
79053	ALG8	HP:0002617	Vascular dilatation	HP:0040283	ORPHA:2924
79053	ALG8	HP:0000158	Macroglossia	HP:0040283	ORPHA:79325
79053	ALG8	HP:0033842	Early satiety	HP:0040282	ORPHA:2924
79053	ALG8	HP:0000107	Renal cyst	4/5	OMIM:617874
79053	ALG8	HP:0001410	Decreased liver function	1/3	OMIM:608104
79053	ALG8	HP:0001407	Hepatic cysts	5/5	OMIM:617874
79053	ALG8	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:2924
79053	ALG8	HP:0002027	Abdominal pain	HP:0040283	ORPHA:2924
79053	ALG8	HP:0002014	Diarrhea	1/1	OMIM:608104
79053	ALG8	HP:0002014	Diarrhea	HP:0040283	ORPHA:79325
79053	ALG8	HP:0002013	Vomiting	HP:0040283	ORPHA:79325
79053	ALG8	HP:0002013	Vomiting	1/2	OMIM:608104
79053	ALG8	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:2924
79053	ALG8	HP:0002094	Dyspnea	HP:0040283	ORPHA:2924
79053	ALG8	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:2924
79053	ALG8	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:79325
79053	ALG8	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040283	ORPHA:2924
79053	ALG8	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:79325
79053	ALG8	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:79325
79053	ALG8	HP:0003418	Back pain	HP:0040283	ORPHA:2924
79053	ALG8	HP:0003593	Infantile onset	1/1	OMIM:608104
79053	ALG8	HP:0003577	Congenital onset	1/3	OMIM:608104
79053	ALG8	HP:0002243	Protein-losing enteropathy	1/1	OMIM:608104
79053	ALG8	HP:0003573	Increased total bilirubin	HP:0040283	ORPHA:2924
79053	ALG8	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2924
79053	ALG8	HP:0002240	Hepatomegaly	1/1	OMIM:608104
79053	ALG8	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:2924
79053	ALG8	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:79325
79053	ALG8	HP:0002352	Leukoencephalopathy	HP:0040283	ORPHA:79325
79053	ALG8	HP:0001001	Abnormality of subcutaneous fat tissue	HP:0040283	ORPHA:79325
79053	ALG8	HP:0100678	Premature skin wrinkling	HP:0040283	ORPHA:79325
79053	ALG8	HP:0010741	Pedal edema	HP:0040283	ORPHA:2924
79053	ALG8	HP:0003642	Type I transferrin isoform profile	HP:0040282	ORPHA:79325
79053	ALG8	HP:0003642	Type I transferrin isoform profile	1/1	OMIM:608104
79053	ALG8	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:2924
79053	ALG8	HP:0005543	Reduced protein C activity	HP:0040283	ORPHA:79325
79053	ALG8	HP:0005562	Multiple renal cysts	HP:0040282	ORPHA:2924
79053	ALG8	HP:0000639	Nystagmus	HP:0040283	ORPHA:79325
79053	ALG8	HP:0001976	Reduced antithrombin III activity	1/1	OMIM:608104
79053	ALG8	HP:0001976	Reduced antithrombin III activity	HP:0040283	ORPHA:79325
79053	ALG8	HP:0000648	Optic atrophy	HP:0040283	ORPHA:79325
79053	ALG8	HP:0001929	Reduced factor XI activity	1/1	OMIM:608104
79053	ALG8	HP:0001929	Reduced factor XI activity	HP:0040283	ORPHA:79325
79053	ALG8	HP:0001903	Anemia	HP:0040283	ORPHA:79325
79053	ALG8	HP:0001903	Anemia	2/2	OMIM:608104
79053	ALG8	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:79325
79053	ALG8	HP:0003073	Hypoalbuminemia	4/4	OMIM:608104
79053	ALG8	HP:0000707	Abnormality of the nervous system	HP:0040281	ORPHA:79325
79053	ALG8	HP:0011461	Fetal onset	2/3	OMIM:608104
79053	ALG8	HP:0003186	Inverted nipples	HP:0040283	ORPHA:79325
79053	ALG8	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040283	ORPHA:2924
79053	ALG8	HP:0000821	Hypothyroidism	1/3	OMIM:608104
79053	ALG8	HP:0003270	Abdominal distention	1/3	OMIM:608104
79053	ALG8	HP:0003270	Abdominal distention	HP:0040281	ORPHA:2924
79053	ALG8	HP:0003256	Abnormality of the coagulation cascade	HP:0040282	ORPHA:79325
79053	ALG8	HP:0003259	Elevated circulating creatinine concentration	2/2	OMIM:608104
79053	ALG8	HP:0000973	Cutis laxa	HP:0040283	ORPHA:79325
79053	ALG8	HP:0000952	Jaundice	HP:0040283	ORPHA:2924
79053	ALG8	HP:0000969	Edema	4/4	OMIM:608104
79053	ALG8	HP:0000969	Edema	HP:0040282	ORPHA:79325
79053	ALG8	HP:0011682	Perimembranous ventricular septal defect	1/3	OMIM:608104
79053	ALG8	HP:0000239	Large fontanelles	1/3	OMIM:608104
79053	ALG8	HP:0001562	Oligohydramnios	2/3	OMIM:608104
79053	ALG8	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:79325
79053	ALG8	HP:0001558	Decreased fetal movement	2/3	OMIM:608104
79053	ALG8	HP:0001522	Death in infancy	2/3	OMIM:608104
79053	ALG8	HP:0001541	Ascites	3/3	OMIM:608104
79053	ALG8	HP:0001541	Ascites	HP:0040282	ORPHA:79325
79053	ALG8	HP:0001508	Failure to thrive	3/3	OMIM:608104
79053	ALG8	HP:0001508	Failure to thrive	HP:0040283	ORPHA:79325
79053	ALG8	HP:0001518	Small for gestational age	HP:0040283	ORPHA:79325
79053	ALG8	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:79325
79053	ALG8	HP:0001511	Intrauterine growth retardation	1/2	OMIM:608104
79053	ALG8	HP:0031507	Decreased circulating T4 concentration	2/2	OMIM:608104
79053	ALG8	HP:0012385	Camptodactyly	1/3	OMIM:608104
79053	ALG8	HP:0012385	Camptodactyly	HP:0040283	ORPHA:79325
79053	ALG8	HP:0006557	Polycystic liver disease	HP:0040281	ORPHA:2924
79053	ALG8	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:79325
79053	ALG8	HP:0002902	Hyponatremia	HP:0040282	ORPHA:79325
79053	ALG8	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040282	ORPHA:79325
79053	ALG8	HP:0000369	Low-set ears	1/3	OMIM:608104
79053	ALG8	HP:0000369	Low-set ears	HP:0040283	ORPHA:79325
79053	ALG8	HP:0000343	Long philtrum	1/3	OMIM:608104
79053	ALG8	HP:0000316	Hypertelorism	1/3	OMIM:608104
79053	ALG8	HP:0000316	Hypertelorism	HP:0040283	ORPHA:79325
79053	ALG8	HP:0001643	Patent ductus arteriosus	1/3	OMIM:608104
79053	ALG8	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:2924
79053	ALG8	HP:0001622	Premature birth	HP:0040282	ORPHA:79325
79053	ALG8	HP:0001732	Abnormality of the pancreas	HP:0040283	ORPHA:2924
79053	ALG8	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:79325
79053	ALG8	HP:0000488	Retinopathy	HP:0040283	ORPHA:79325
79053	ALG8	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:79325
79053	ALG8	HP:0001789	Hydrops fetalis	HP:0040282	ORPHA:79325
79053	ALG8	HP:0000470	Short neck	1/3	OMIM:608104
79053	ALG8	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:79325
79053	ALG8	HP:0001762	Talipes equinovarus	1/3	OMIM:608104
79053	ALG8	HP:0000518	Cataract	HP:0040282	ORPHA:79325
79053	ALG8	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:79325
79053	ALG8	HP:0001873	Thrombocytopenia	3/3	OMIM:608104
79058	ASPSCR1	HP:0001442	Typified by somatic mosaicism	-	OMIM:606243
79058	ASPSCR1	HP:0012218	Alveolar soft part sarcoma	-	OMIM:606243
79068	FTO	HP:0001156	Brachydactyly	6/6	OMIM:612938
79068	FTO	HP:0001276	Hypertonia	6/6	OMIM:612938
79068	FTO	HP:0001250	Seizure	3/8	OMIM:612938
79068	FTO	HP:0003819	Death in childhood	-	OMIM:612938
79068	FTO	HP:0002678	Skull asymmetry	6/6	OMIM:612938
79068	FTO	HP:0000028	Cryptorchidism	-	OMIM:612938
79068	FTO	HP:0006129	Drumstick terminal phalanges	6/6	OMIM:612938
79068	FTO	HP:0001339	Lissencephaly	3/8	OMIM:612938
79068	FTO	HP:0000007	Autosomal recessive inheritance	-	OMIM:612938
79068	FTO	HP:0001305	Dandy-Walker malformation	2/8	OMIM:612938
79068	FTO	HP:0000193	Bifid uvula	3/6	OMIM:612938
79068	FTO	HP:0000175	Cleft palate	3/6	OMIM:612938
79068	FTO	HP:0003577	Congenital onset	5/8	OMIM:612938
79068	FTO	HP:0010808	Protruding tongue	3/7	OMIM:612938
79068	FTO	HP:0009085	Alveolar ridge overgrowth	6/6	OMIM:612938
79068	FTO	HP:0011344	Severe global developmental delay	8/8	OMIM:612938
79068	FTO	HP:0011461	Fetal onset	3/8	OMIM:612938
79068	FTO	HP:0000965	Cutis marmorata	7/7	OMIM:612938
79068	FTO	HP:0000280	Coarse facial features	7/7	OMIM:612938
79068	FTO	HP:0000278	Retrognathia	7/7	OMIM:612938
79068	FTO	HP:0000238	Hydrocephalus	4/8	OMIM:612938
79068	FTO	HP:0000233	Thin vermilion border	7/7	OMIM:612938
79068	FTO	HP:0001537	Umbilical hernia	4/6	OMIM:612938
79068	FTO	HP:0001508	Failure to thrive	8/8	OMIM:612938
79068	FTO	HP:0001511	Intrauterine growth retardation	3/7	OMIM:612938
79068	FTO	HP:0001612	Weak cry	4/6	OMIM:612938
79068	FTO	HP:0001643	Patent ductus arteriosus	-	OMIM:612938
79068	FTO	HP:0001629	Ventricular septal defect	6/8	OMIM:612938
79068	FTO	HP:0001639	Hypertrophic cardiomyopathy	4/8	OMIM:612938
79068	FTO	HP:0000407	Sensorineural hearing impairment	5/5	OMIM:612938
79068	FTO	HP:0000463	Anteverted nares	7/7	OMIM:612938
79068	FTO	HP:0012444	Brain atrophy	1/8	OMIM:612938
79068	FTO	HP:0000470	Short neck	7/7	OMIM:612938
79068	FTO	HP:0005484	Secondary microcephaly	8/8	OMIM:612938
79068	FTO	HP:0001800	Hypoplastic toenails	6/6	OMIM:612938
79083	MLPH	HP:0007443	Partial albinism	HP:0040283	ORPHA:79478
79083	MLPH	HP:0000007	Autosomal recessive inheritance	-	OMIM:609227
79083	MLPH	HP:0002721	Immunodeficiency	0/2	OMIM:609227
79083	MLPH	HP:0002218	Silver-gray hair	2/2	OMIM:609227
79083	MLPH	HP:0002227	White eyelashes	2/2	OMIM:609227
79083	MLPH	HP:0005599	Hypopigmentation of hair	HP:0040281	ORPHA:79478
79083	MLPH	HP:0000707	Abnormality of the nervous system	0/2	OMIM:609227
79083	MLPH	HP:0011463	Childhood onset	2/2	OMIM:609227
79083	MLPH	HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	2/2	OMIM:609227
79083	MLPH	HP:0007730	Iris hypopigmentation	HP:0040283	ORPHA:79478
79087	ALG12	HP:0410242	Abnormal circulating IgG concentration	HP:0040282	ORPHA:79324
79087	ALG12	HP:0410243	Abnormal circulating IgM concentration	HP:0040283	ORPHA:79324
79087	ALG12	HP:0410240	Abnormal circulating IgA concentration	HP:0040283	ORPHA:79324
79087	ALG12	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
79087	ALG12	HP:0001293	Cranial nerve compression	-	OMIM:131300
79087	ALG12	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:79324
79087	ALG12	HP:0001290	Generalized hypotonia	1/1	OMIM:607143
79087	ALG12	HP:0100806	Sepsis	HP:0040284	ORPHA:79324
79087	ALG12	HP:0100807	Long fingers	HP:0040283	ORPHA:79324
79087	ALG12	HP:0001254	Lethargy	1/1	OMIM:607143
79087	ALG12	HP:0001250	Seizure	HP:0040283	ORPHA:79324
79087	ALG12	HP:0001252	Hypotonia	1/1	OMIM:607143
79087	ALG12	HP:0001252	Hypotonia	HP:0040282	ORPHA:79324
79087	ALG12	HP:0001252	Hypotonia	2/7	OMIM:615777
79087	ALG12	HP:0001249	Intellectual disability	HP:0040282	ORPHA:79324
79087	ALG12	HP:0001249	Intellectual disability	5/7	OMIM:615777
79087	ALG12	HP:0001263	Global developmental delay	2/2	OMIM:607143
79087	ALG12	HP:0001263	Global developmental delay	-	OMIM:615777
79087	ALG12	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:79324
79087	ALG12	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:79324
79087	ALG12	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	HP:0040283	ORPHA:79324
79087	ALG12	HP:0410305	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	HP:0040283	ORPHA:79324
79087	ALG12	HP:0010976	Decreased total B cell count	HP:0040282	ORPHA:79324
79087	ALG12	HP:0002515	Waddling gait	54/102	OMIM:131300
79087	ALG12	HP:0000046	Small scrotum	-	OMIM:607143
79087	ALG12	HP:0000054	Micropenis	1/1	OMIM:607143
79087	ALG12	HP:0000054	Micropenis	HP:0040283	ORPHA:79324
79087	ALG12	HP:0001382	Joint hypermobility	-	OMIM:615777
79087	ALG12	HP:0000047	Hypospadias	HP:0040283	ORPHA:79324
79087	ALG12	HP:0000047	Hypospadias	-	OMIM:607143
79087	ALG12	HP:0002694	Sclerosis of skull base	-	OMIM:131300
79087	ALG12	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:79324
79087	ALG12	HP:0000028	Cryptorchidism	1/1	OMIM:607143
79087	ALG12	HP:0008897	Postnatal growth retardation	-	OMIM:615777
79087	ALG12	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
79087	ALG12	HP:0001324	Muscle weakness	40/96	OMIM:131300
79087	ALG12	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
79087	ALG12	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
79087	ALG12	HP:0000007	Autosomal recessive inheritance	-	OMIM:607143
79087	ALG12	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
79087	ALG12	HP:0001302	Pachygyria	HP:0040283	ORPHA:79324
79087	ALG12	HP:0002650	Scoliosis	HP:0040283	ORPHA:79324
79087	ALG12	HP:0002650	Scoliosis	12/14	OMIM:131300
79087	ALG12	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:79324
79087	ALG12	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
79087	ALG12	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
79087	ALG12	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
79087	ALG12	HP:0008905	Rhizomelia	-	OMIM:607143
79087	ALG12	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
79087	ALG12	HP:0000175	Cleft palate	2/7	OMIM:615777
79087	ALG12	HP:0410018	Recurrent ear infections	HP:0040282	ORPHA:79324
79087	ALG12	HP:0000119	Abnormality of the genitourinary system	HP:0040281	ORPHA:79324
79087	ALG12	HP:0002788	Recurrent upper respiratory tract infections	1/1	OMIM:607143
79087	ALG12	HP:0002720	Decreased circulating IgA concentration	1/1	OMIM:607143
79087	ALG12	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:79324
79087	ALG12	HP:0002033	Poor suck	1/1	OMIM:607143
79087	ALG12	HP:0002011	Morphological central nervous system abnormality	HP:0040282	ORPHA:79324
79087	ALG12	HP:0003316	Butterfly vertebrae	-	OMIM:607143
79087	ALG12	HP:0011800	Midface retrusion	HP:0040283	ORPHA:79324
79087	ALG12	HP:0011800	Midface retrusion	-	OMIM:607143
79087	ALG12	HP:0002098	Respiratory distress	1/1	OMIM:607143
79087	ALG12	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:79324
79087	ALG12	HP:0003388	Easy fatigability	36/76	OMIM:131300
79087	ALG12	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
79087	ALG12	HP:0008151	Prolonged prothrombin time	HP:0040282	ORPHA:79324
79087	ALG12	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:79324
79087	ALG12	HP:0009623	Proximal placement of thumb	HP:0040283	ORPHA:79324
79087	ALG12	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:79324
79087	ALG12	HP:0002162	Low posterior hairline	HP:0040283	ORPHA:79324
79087	ALG12	HP:0010557	Overlapping fingers	HP:0040283	ORPHA:79324
79087	ALG12	HP:0011849	Abnormal bone ossification	HP:0040283	ORPHA:79324
79087	ALG12	HP:0003593	Infantile onset	1/1	OMIM:607143
79087	ALG12	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:79324
79087	ALG12	HP:0004855	Reduced protein S activity	HP:0040282	ORPHA:79324
79087	ALG12	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:79324
79087	ALG12	HP:0100776	Recurrent pharyngitis	HP:0040282	ORPHA:79324
79087	ALG12	HP:0200128	Biventricular hypertrophy	HP:0040284	ORPHA:79324
79087	ALG12	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:79324
79087	ALG12	HP:0011968	Feeding difficulties	2/2	OMIM:607143
79087	ALG12	HP:0003510	Severe short stature	7/7	OMIM:615777
79087	ALG12	HP:0020045	Esodeviation	1/1	OMIM:607143
79087	ALG12	HP:0002389	Cavum septum pellucidum	HP:0040283	ORPHA:79324
79087	ALG12	HP:0002315	Headache	-	OMIM:131300
79087	ALG12	HP:0004976	Knee dislocation	6/7	OMIM:615777
79087	ALG12	HP:0003645	Prolonged partial thromboplastin time	HP:0040282	ORPHA:79324
79087	ALG12	HP:0003645	Prolonged partial thromboplastin time	-	OMIM:607143
79087	ALG12	HP:0009803	Short phalanx of finger	-	OMIM:615777
79087	ALG12	HP:0009763	Limb pain	63/92	OMIM:131300
79087	ALG12	HP:0003623	Neonatal onset	1/1	OMIM:607143
79087	ALG12	HP:0003642	Type I transferrin isoform profile	2/2	OMIM:607143
79087	ALG12	HP:0003621	Juvenile onset	-	OMIM:131300
79087	ALG12	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
79087	ALG12	HP:0005543	Reduced protein C activity	HP:0040282	ORPHA:79324
79087	ALG12	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:79324
79087	ALG12	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
79087	ALG12	HP:6001056	Out-toeing	-	OMIM:131300
79087	ALG12	HP:0000651	Diplopia	-	OMIM:131300
79087	ALG12	HP:0001976	Reduced antithrombin III activity	1/1	OMIM:607143
79087	ALG12	HP:0001943	Hypoglycemia	1/1	OMIM:607143
79087	ALG12	HP:0001956	Truncal obesity	2/7	OMIM:615777
79087	ALG12	HP:0001929	Reduced factor XI activity	HP:0040282	ORPHA:79324
79087	ALG12	HP:0001903	Anemia	HP:0040283	OMIM:131300
79087	ALG12	HP:0010049	Short metacarpal	-	OMIM:615777
79087	ALG12	HP:0011344	Severe global developmental delay	HP:0040283	ORPHA:79324
79087	ALG12	HP:0000678	Dental crowding	-	OMIM:615777
79087	ALG12	HP:0011327	Posterior plagiocephaly	HP:0040283	ORPHA:79324
79087	ALG12	HP:0001988	Recurrent hypoglycemia	HP:0040283	ORPHA:79324
79087	ALG12	HP:0000670	Carious teeth	-	OMIM:131300
79087	ALG12	HP:0011304	Broad thumb	2/7	OMIM:615777
79087	ALG12	HP:0000668	Hypodontia	-	OMIM:615777
79087	ALG12	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:79324
79087	ALG12	HP:0000664	Synophrys	-	OMIM:615777
79087	ALG12	HP:0004315	Decreased circulating IgG concentration	2/2	OMIM:607143
79087	ALG12	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:79324
79087	ALG12	HP:0004396	Poor appetite	-	OMIM:131300
79087	ALG12	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
79087	ALG12	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
79087	ALG12	HP:0003049	Ulnar deviation of the wrist	HP:0040283	ORPHA:79324
79087	ALG12	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
79087	ALG12	HP:0003026	Short long bone	7/7	OMIM:615777
79087	ALG12	HP:0003026	Short long bone	HP:0040283	ORPHA:79324
79087	ALG12	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
79087	ALG12	HP:0000759	Abnormal peripheral nervous system morphology	HP:0040282	ORPHA:79324
79087	ALG12	HP:0000767	Pectus excavatum	2/7	OMIM:615777
79087	ALG12	HP:0000768	Pectus carinatum	1/7	OMIM:615777
79087	ALG12	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
79087	ALG12	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:79324
79087	ALG12	HP:0000750	Delayed speech and language development	-	OMIM:615777
79087	ALG12	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:79324
79087	ALG12	HP:0011461	Fetal onset	7/7	OMIM:615777
79087	ALG12	HP:0012766	Widened cerebral subarachnoid space	HP:0040283	ORPHA:79324
79087	ALG12	HP:0009124	Abnormal adipose tissue morphology	HP:0040284	ORPHA:79324
79087	ALG12	HP:0000774	Narrow chest	2/7	OMIM:615777
79087	ALG12	HP:0000773	Short ribs	-	OMIM:607143
79087	ALG12	HP:0005736	Short tibia	-	OMIM:607143
79087	ALG12	HP:0000926	Platyspondyly	1/7	OMIM:615777
79087	ALG12	HP:0003186	Inverted nipples	HP:0040284	ORPHA:79324
79087	ALG12	HP:0003186	Inverted nipples	1/1	OMIM:607143
79087	ALG12	HP:0003180	Flat acetabular roof	-	OMIM:615777
79087	ALG12	HP:0004482	Relative macrocephaly	-	OMIM:615777
79087	ALG12	HP:0005792	Short humerus	-	OMIM:607143
79087	ALG12	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
79087	ALG12	HP:0003146	Hypocholesterolemia	HP:0040283	ORPHA:79324
79087	ALG12	HP:0003097	Short femur	-	OMIM:607143
79087	ALG12	HP:0000823	Delayed puberty	-	OMIM:131300
79087	ALG12	HP:0000894	Short clavicles	-	OMIM:615777
79087	ALG12	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
79087	ALG12	HP:0040246	Reduced antithrombin antigen	HP:0040282	ORPHA:79324
79087	ALG12	HP:0003256	Abnormality of the coagulation cascade	HP:0040281	ORPHA:79324
79087	ALG12	HP:0011623	Muscular ventricular septal defect	HP:0040284	ORPHA:79324
79087	ALG12	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
79087	ALG12	HP:0000969	Edema	-	OMIM:607143
79087	ALG12	HP:0000969	Edema	HP:0040284	ORPHA:79324
79087	ALG12	HP:0000286	Epicanthus	HP:0040283	ORPHA:79324
79087	ALG12	HP:0000286	Epicanthus	1/1	OMIM:607143
79087	ALG12	HP:0000286	Epicanthus	1/7	OMIM:615777
79087	ALG12	HP:0000280	Coarse facial features	2/7	OMIM:615777
79087	ALG12	HP:0000276	Long face	HP:0040283	ORPHA:79324
79087	ALG12	HP:0002827	Hip dislocation	3/7	OMIM:615777
79087	ALG12	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:79324
79087	ALG12	HP:0000253	Progressive microcephaly	1/1	OMIM:607143
79087	ALG12	HP:0000252	Microcephaly	-	OMIM:615777
79087	ALG12	HP:0001582	Redundant skin	HP:0040283	ORPHA:79324
79087	ALG12	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:79324
79087	ALG12	HP:0000219	Thin upper lip vermilion	-	OMIM:607143
79087	ALG12	HP:0001561	Polyhydramnios	-	OMIM:607143
79087	ALG12	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:79324
79087	ALG12	HP:0002857	Genu valgum	-	OMIM:131300
79087	ALG12	HP:0001533	Slender build	-	OMIM:131300
79087	ALG12	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79324
79087	ALG12	HP:0001508	Failure to thrive	1/1	OMIM:607143
79087	ALG12	HP:0002850	Decreased circulating total IgM	1/1	OMIM:607143
79087	ALG12	HP:0001518	Small for gestational age	-	OMIM:607143
79087	ALG12	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:79324
79087	ALG12	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
79087	ALG12	HP:0007807	Optic nerve compression	-	OMIM:131300
79087	ALG12	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040280	ORPHA:79324
79087	ALG12	HP:0012385	Camptodactyly	HP:0040283	ORPHA:79324
79087	ALG12	HP:0012368	Flat face	7/7	OMIM:615777
79087	ALG12	HP:0000377	Abnormal pinna morphology	-	OMIM:607143
79087	ALG12	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:79324
79087	ALG12	HP:0006532	Recurrent pneumonia	1/1	OMIM:607143
79087	ALG12	HP:0006532	Recurrent pneumonia	HP:0040282	ORPHA:79324
79087	ALG12	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
79087	ALG12	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:79324
79087	ALG12	HP:0002902	Hyponatremia	HP:0040284	ORPHA:79324
79087	ALG12	HP:0002901	Hypocalcemia	1/1	OMIM:607143
79087	ALG12	HP:0000365	Hearing impairment	10/67	OMIM:131300
79087	ALG12	HP:0000343	Long philtrum	1/7	OMIM:615777
79087	ALG12	HP:0011001	Increased bone mineral density	-	OMIM:131300
79087	ALG12	HP:0000347	Micrognathia	HP:0040283	ORPHA:79324
79087	ALG12	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:79324
79087	ALG12	HP:0001643	Patent ductus arteriosus	-	OMIM:607143
79087	ALG12	HP:0000311	Round face	2/7	OMIM:615777
79087	ALG12	HP:0000322	Short philtrum	-	OMIM:607143
79087	ALG12	HP:0000322	Short philtrum	HP:0040283	ORPHA:79324
79087	ALG12	HP:0000325	Triangular face	1/1	OMIM:607143
79087	ALG12	HP:0002984	Hypoplasia of the radius	-	OMIM:607143
79087	ALG12	HP:0001655	Patent foramen ovale	-	OMIM:607143
79087	ALG12	HP:0001655	Patent foramen ovale	HP:0040284	ORPHA:79324
79087	ALG12	HP:0001622	Premature birth	HP:0040283	ORPHA:79324
79087	ALG12	HP:0002970	Genu varum	-	OMIM:615777
79087	ALG12	HP:0000303	Mandibular prognathia	-	OMIM:131300
79087	ALG12	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:79324
79087	ALG12	HP:0000407	Sensorineural hearing impairment	-	OMIM:607143
79087	ALG12	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
79087	ALG12	HP:0000486	Strabismus	HP:0040283	ORPHA:79324
79087	ALG12	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:79324
79087	ALG12	HP:0001792	Small nail	HP:0040283	ORPHA:79324
79087	ALG12	HP:0012448	Delayed myelination	HP:0040283	ORPHA:79324
79087	ALG12	HP:0000470	Short neck	1/7	OMIM:615777
79087	ALG12	HP:0001769	Broad foot	HP:0040283	OMIM:615777
79087	ALG12	HP:0001763	Pes planus	1/7	OMIM:615777
79087	ALG12	HP:0000445	Wide nose	-	OMIM:607143
79087	ALG12	HP:0000445	Wide nose	HP:0040283	ORPHA:79324
79087	ALG12	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:79324
79087	ALG12	HP:0001762	Talipes equinovarus	1/1	OMIM:607143
79087	ALG12	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:79324
79087	ALG12	HP:0001840	Metatarsus adductus	-	OMIM:615777
79087	ALG12	HP:0001852	Sandal gap	1/1	OMIM:607143
79087	ALG12	HP:0001852	Sandal gap	HP:0040283	ORPHA:79324
79087	ALG12	HP:0000520	Proptosis	2/4	OMIM:131300
79087	ALG12	HP:0000520	Proptosis	7/7	OMIM:615777
79087	ALG12	HP:0030353	Decreased serum insulin-like growth factor 1	HP:0040283	ORPHA:79324
79087	ALG12	HP:0000592	Blue sclerae	2/7	OMIM:615777
79087	ALG12	HP:0000541	Retinal detachment	-	OMIM:607143
79087	ALG12	HP:0000541	Retinal detachment	HP:0040283	ORPHA:79324
79087	ALG12	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
79087	ALG12	HP:0012514	Lower limb pain	4/4	OMIM:131300
79087	ALG12	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:79324
79092	CARD14	HP:0025114	Hypergranulosis	-	OMIM:173200
79092	CARD14	HP:0003765	Psoriasiform dermatitis	-	OMIM:602723
79092	CARD14	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:2897
79092	CARD14	HP:0002664	Neoplasm	HP:0040283	ORPHA:2897
79092	CARD14	HP:0000006	Autosomal dominant inheritance	-	OMIM:602723
79092	CARD14	HP:0000006	Autosomal dominant inheritance	-	OMIM:173200
79092	CARD14	HP:0025474	Erythematous plaque	-	OMIM:173200
79092	CARD14	HP:0000163	Abnormal oral cavity morphology	HP:0040283	ORPHA:2897
79092	CARD14	HP:0003593	Infantile onset	-	OMIM:173200
79092	CARD14	HP:0100725	Lichenification	HP:0040283	ORPHA:2897
79092	CARD14	HP:0008392	Subungual hyperkeratosis	-	OMIM:173200
79092	CARD14	HP:0008392	Subungual hyperkeratosis	HP:0040282	ORPHA:2897
79092	CARD14	HP:0001036	Parakeratosis	-	OMIM:173200
79092	CARD14	HP:0001036	Parakeratosis	-	OMIM:602723
79092	CARD14	HP:0001019	Erythroderma	HP:0040281	ORPHA:2897
79092	CARD14	HP:0025092	Epidermal acanthosis	-	OMIM:602723
79092	CARD14	HP:0200034	Papule	HP:0040281	ORPHA:2897
79092	CARD14	HP:0200039	Pustule	HP:0040283	ORPHA:2897
79092	CARD14	HP:0001072	Thickened skin	HP:0040282	ORPHA:2897
79092	CARD14	HP:0032152	Keratosis pilaris	-	OMIM:173200
79092	CARD14	HP:0000656	Ectropion	HP:0040283	OMIM:173200
79092	CARD14	HP:0000989	Pruritus	HP:0040282	ORPHA:2897
79092	CARD14	HP:0000982	Palmoplantar keratoderma	-	OMIM:173200
79092	CARD14	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:2897
79092	CARD14	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:2897
79092	CARD14	HP:0000962	Hyperkeratosis	-	OMIM:602723
79092	CARD14	HP:0040162	Orthokeratosis	-	OMIM:173200
79092	CARD14	HP:0008064	Ichthyosis	HP:0040283	ORPHA:2897
79092	CARD14	HP:0040189	Scaling skin	-	OMIM:602723
79092	CARD14	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:2897
79133	NDUFAF5	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
79133	NDUFAF5	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0002490	Increased CSF lactate	1/1	OMIM:618238
79133	NDUFAF5	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0001290	Generalized hypotonia	-	OMIM:618238
79133	NDUFAF5	HP:0001274	Agenesis of corpus callosum	1/1	OMIM:618238
79133	NDUFAF5	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0001250	Seizure	HP:0040284	OMIM:618238
79133	NDUFAF5	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0001266	Choreoathetosis	2/2	OMIM:618238
79133	NDUFAF5	HP:0001260	Dysarthria	-	OMIM:618238
79133	NDUFAF5	HP:0001263	Global developmental delay	2/2	OMIM:618238
79133	NDUFAF5	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0001257	Spasticity	2/2	OMIM:618238
79133	NDUFAF5	HP:0002510	Spastic tetraplegia	2/2	OMIM:618238
79133	NDUFAF5	HP:0001332	Dystonia	2/2	OMIM:618238
79133	NDUFAF5	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0000007	Autosomal recessive inheritance	-	OMIM:618238
79133	NDUFAF5	HP:0002650	Scoliosis	2/2	OMIM:618238
79133	NDUFAF5	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
79133	NDUFAF5	HP:0011923	Decreased activity of mitochondrial complex I	3/3	OMIM:618238
79133	NDUFAF5	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
79133	NDUFAF5	HP:0011968	Feeding difficulties	-	OMIM:618238
79133	NDUFAF5	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0002342	Intellectual disability, moderate	2/2	OMIM:618238
79133	NDUFAF5	HP:0002340	Caudate atrophy	2/2	OMIM:618238
79133	NDUFAF5	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0000639	Nystagmus	-	OMIM:618238
79133	NDUFAF5	HP:0000648	Optic atrophy	HP:0040284	OMIM:618238
79133	NDUFAF5	HP:0000618	Blindness	HP:0040283	ORPHA:2609
79133	NDUFAF5	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0009112	Aplasia of the left hemidiaphragm	1/1	OMIM:618238
79133	NDUFAF5	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0003128	Lactic acidosis	1/1	OMIM:618238
79133	NDUFAF5	HP:0000846	Adrenal insufficiency	1/1	OMIM:618238
79133	NDUFAF5	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
79133	NDUFAF5	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
79133	NDUFAF5	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0001508	Failure to thrive	-	OMIM:618238
79133	NDUFAF5	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0001511	Intrauterine growth retardation	1/1	OMIM:618238
79133	NDUFAF5	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
79133	NDUFAF5	HP:0000508	Ptosis	-	OMIM:618238
79133	NDUFAF5	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
79140	CCDC28B	HP:0001156	Brachydactyly	-	OMIM:209900
79140	CCDC28B	HP:0001162	Postaxial hand polydactyly	1/1	OMIM:209900
79140	CCDC28B	HP:0001159	Syndactyly	-	OMIM:209900
79140	CCDC28B	HP:0001251	Ataxia	-	OMIM:209900
79140	CCDC28B	HP:0001249	Intellectual disability	26/33	OMIM:209900
79140	CCDC28B	HP:0001263	Global developmental delay	2/4	OMIM:209900
79140	CCDC28B	HP:0008734	Decreased testicular size	-	OMIM:209900
79140	CCDC28B	HP:0001395	Hepatic fibrosis	-	OMIM:209900
79140	CCDC28B	HP:0000077	Abnormality of the kidney	-	OMIM:209900
79140	CCDC28B	HP:0000054	Micropenis	-	OMIM:209900
79140	CCDC28B	HP:0001328	Specific learning disability	-	OMIM:209900
79140	CCDC28B	HP:0000007	Autosomal recessive inheritance	-	OMIM:209900
79140	CCDC28B	HP:0002650	Scoliosis	1/10	OMIM:209900
79140	CCDC28B	HP:0000135	Hypogonadism	-	OMIM:209900
79140	CCDC28B	HP:0000137	Abnormality of the ovary	-	OMIM:209900
79140	CCDC28B	HP:0000148	Vaginal atresia	-	OMIM:209900
79140	CCDC28B	HP:0007663	Reduced visual acuity	15/15	OMIM:209900
79140	CCDC28B	HP:0002705	High, narrow palate	-	OMIM:209900
79140	CCDC28B	HP:0002099	Asthma	-	OMIM:209900
79140	CCDC28B	HP:0009466	Radial deviation of finger	-	OMIM:209900
79140	CCDC28B	HP:0002141	Gait imbalance	-	OMIM:209900
79140	CCDC28B	HP:0002167	Abnormal speech pattern	-	OMIM:209900
79140	CCDC28B	HP:0003577	Congenital onset	4/4	OMIM:209900
79140	CCDC28B	HP:0002251	Aganglionic megacolon	HP:0040283	OMIM:209900
79140	CCDC28B	HP:0002370	Poor coordination	-	OMIM:209900
79140	CCDC28B	HP:0001007	Hirsutism	-	OMIM:209900
79140	CCDC28B	HP:0009806	Nephrogenic diabetes insipidus	-	OMIM:209900
79140	CCDC28B	HP:0001080	Biliary tract abnormality	-	OMIM:209900
79140	CCDC28B	HP:0010750	Dermatochalasis	1/3	OMIM:209900
79140	CCDC28B	HP:0003621	Juvenile onset	5/9	OMIM:209900
79140	CCDC28B	HP:0000639	Nystagmus	11/11	OMIM:209900
79140	CCDC28B	HP:0001956	Truncal obesity	18/22	OMIM:209900
79140	CCDC28B	HP:0000678	Dental crowding	-	OMIM:209900
79140	CCDC28B	HP:0000662	Nyctalopia	14/14	OMIM:209900
79140	CCDC28B	HP:0000668	Hypodontia	-	OMIM:209900
79140	CCDC28B	HP:0030631	Hyperautofluorescent macular lesion	1/1	OMIM:209900
79140	CCDC28B	HP:0012743	Abdominal obesity	1/1	OMIM:209900
79140	CCDC28B	HP:0000750	Delayed speech and language development	-	OMIM:209900
79140	CCDC28B	HP:0011463	Childhood onset	4/9	OMIM:209900
79140	CCDC28B	HP:0000786	Primary amenorrhea	2/2	OMIM:209900
79140	CCDC28B	HP:0000855	Insulin resistance	1/1	OMIM:209900
79140	CCDC28B	HP:0000819	Diabetes mellitus	7/22	OMIM:209900
79140	CCDC28B	HP:0000822	Hypertension	-	OMIM:209900
79140	CCDC28B	HP:0100259	Postaxial polydactyly	21/33	OMIM:209900
79140	CCDC28B	HP:0000256	Macrocephaly	-	OMIM:209900
79140	CCDC28B	HP:0007737	Bone spicule pigmentation of the retina	3/3	OMIM:209900
79140	CCDC28B	HP:0000218	High palate	1/1	OMIM:209900
79140	CCDC28B	HP:0001513	Obesity	11/12	OMIM:209900
79140	CCDC28B	HP:0007843	Attenuation of retinal blood vessels	4/4	OMIM:209900
79140	CCDC28B	HP:0012393	Allergy	-	OMIM:209900
79140	CCDC28B	HP:0000365	Hearing impairment	-	OMIM:209900
79140	CCDC28B	HP:0007994	Peripheral visual field loss	1/1	OMIM:209900
79140	CCDC28B	HP:0001712	Left ventricular hypertrophy	-	OMIM:209900
79140	CCDC28B	HP:0000483	Astigmatism	3/3	OMIM:209900
79140	CCDC28B	HP:0000486	Strabismus	-	OMIM:209900
79140	CCDC28B	HP:0001773	Short foot	-	OMIM:209900
79140	CCDC28B	HP:0001769	Broad foot	-	OMIM:209900
79140	CCDC28B	HP:0000518	Cataract	2/13	OMIM:209900
79140	CCDC28B	HP:0000510	Rod-cone dystrophy	24/24	OMIM:209900
79140	CCDC28B	HP:0001829	Foot polydactyly	-	OMIM:209900
79140	CCDC28B	HP:0000508	Ptosis	2/3	OMIM:209900
79140	CCDC28B	HP:0001830	Postaxial foot polydactyly	1/1	OMIM:209900
79140	CCDC28B	HP:0000501	Glaucoma	-	OMIM:209900
79140	CCDC28B	HP:0000556	Retinal dystrophy	-	OMIM:209900
79140	CCDC28B	HP:0000546	Retinal degeneration	1/1	OMIM:209900
79140	CCDC28B	HP:0000545	Myopia	6/13	OMIM:209900
79143	MBOAT7	HP:0001290	Generalized hypotonia	15/16	OMIM:617188
79143	MBOAT7	HP:0001276	Hypertonia	16/16	OMIM:617188
79143	MBOAT7	HP:0001250	Seizure	10/16	OMIM:617188
79143	MBOAT7	HP:0001249	Intellectual disability	16/16	OMIM:617188
79143	MBOAT7	HP:0001263	Global developmental delay	16/16	OMIM:617188
79143	MBOAT7	HP:0007359	Focal-onset seizure	1/16	OMIM:617188
79143	MBOAT7	HP:0002540	Inability to walk	3/16	OMIM:617188
79143	MBOAT7	HP:0001347	Hyperreflexia	-	OMIM:617188
79143	MBOAT7	HP:0001344	Absent speech	9/16	OMIM:617188
79143	MBOAT7	HP:0000007	Autosomal recessive inheritance	-	OMIM:617188
79143	MBOAT7	HP:0008936	Axial hypotonia	-	OMIM:617188
79143	MBOAT7	HP:0002123	Generalized myoclonic seizure	4/16	OMIM:617188
79143	MBOAT7	HP:0002126	Polymicrogyria	2/6	OMIM:617188
79143	MBOAT7	HP:0002197	Generalized-onset seizure	1/16	OMIM:617188
79143	MBOAT7	HP:0003593	Infantile onset	-	OMIM:617188
79143	MBOAT7	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2/16	OMIM:617188
79143	MBOAT7	HP:0031936	Delayed ability to walk	13/16	OMIM:617188
79143	MBOAT7	HP:0000729	Autistic behavior	7/16	OMIM:617188
79143	MBOAT7	HP:0000252	Microcephaly	3/16	OMIM:617188
79147	FKRP	HP:0002465	Poor speech	HP:0040283	ORPHA:370968
79147	FKRP	HP:0003797	Limb-girdle muscle atrophy	HP:0040282	ORPHA:370980
79147	FKRP	HP:0002438	Cerebellar malformation	-	OMIM:236670
79147	FKRP	HP:0002435	Meningocele	HP:0040283	ORPHA:588
79147	FKRP	HP:0001105	Retinal atrophy	-	OMIM:236670
79147	FKRP	HP:0007260	Type II lissencephaly	HP:0040282	ORPHA:370959
79147	FKRP	HP:0007260	Type II lissencephaly	-	OMIM:613153
79147	FKRP	HP:0007260	Type II lissencephaly	31/31	OMIM:236670
79147	FKRP	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:370959
79147	FKRP	HP:0010864	Intellectual disability, severe	-	OMIM:236670
79147	FKRP	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:370968
79147	FKRP	HP:0008551	Microtia	-	OMIM:236670
79147	FKRP	HP:0009879	Simplified gyral pattern	1/1	OMIM:613153
79147	FKRP	HP:0002421	Poor head control	1/1	OMIM:613153
79147	FKRP	HP:0003749	Pelvic girdle muscle weakness	HP:0040282	ORPHA:34515
79147	FKRP	HP:0003749	Pelvic girdle muscle weakness	-	OMIM:607155
79147	FKRP	HP:0003724	Shoulder girdle muscle atrophy	-	OMIM:606612
79147	FKRP	HP:0003733	Thigh hypertrophy	-	OMIM:606612
79147	FKRP	HP:0003733	Thigh hypertrophy	-	OMIM:607155
79147	FKRP	HP:0003707	Calf muscle pseudohypertrophy	HP:0040282	ORPHA:370959
79147	FKRP	HP:0003701	Proximal muscle weakness	-	OMIM:607155
79147	FKRP	HP:0003701	Proximal muscle weakness	9/9	OMIM:606612
79147	FKRP	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:34515
79147	FKRP	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:370959
79147	FKRP	HP:0003712	Skeletal muscle hypertrophy	HP:0040282	ORPHA:370959
79147	FKRP	HP:0003712	Skeletal muscle hypertrophy	HP:0040283	ORPHA:370968
79147	FKRP	HP:0007291	Posterior fossa cyst	-	OMIM:236670
79147	FKRP	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:34515
79147	FKRP	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:370980
79147	FKRP	HP:0001276	Hypertonia	HP:0040282	ORPHA:588
79147	FKRP	HP:0001272	Cerebellar atrophy	-	OMIM:606612
79147	FKRP	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:370980
79147	FKRP	HP:0001274	Agenesis of corpus callosum	-	OMIM:236670
79147	FKRP	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:899
79147	FKRP	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:370959
79147	FKRP	HP:0001274	Agenesis of corpus callosum	1/1	OMIM:613153
79147	FKRP	HP:0001270	Motor delay	HP:0040283	ORPHA:34515
79147	FKRP	HP:0001270	Motor delay	HP:0040282	ORPHA:370968
79147	FKRP	HP:0001270	Motor delay	HP:0040282	ORPHA:370980
79147	FKRP	HP:0001270	Motor delay	5/9	OMIM:606612
79147	FKRP	HP:0001270	Motor delay	-	OMIM:613153
79147	FKRP	HP:0001288	Gait disturbance	-	OMIM:606612
79147	FKRP	HP:0001288	Gait disturbance	HP:0040281	ORPHA:588
79147	FKRP	HP:0001288	Gait disturbance	HP:0040282	ORPHA:370980
79147	FKRP	HP:0001288	Gait disturbance	-	OMIM:607155
79147	FKRP	HP:0001284	Areflexia	HP:0040281	ORPHA:899
79147	FKRP	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:370959
79147	FKRP	HP:0001250	Seizure	HP:0040283	ORPHA:370959
79147	FKRP	HP:0001250	Seizure	HP:0040282	ORPHA:588
79147	FKRP	HP:0001250	Seizure	2/2	OMIM:236670
79147	FKRP	HP:0001250	Seizure	HP:0040283	ORPHA:899
79147	FKRP	HP:0001252	Hypotonia	8/9	OMIM:606612
79147	FKRP	HP:0001252	Hypotonia	HP:0040282	ORPHA:588
79147	FKRP	HP:0001252	Hypotonia	-	OMIM:236670
79147	FKRP	HP:0001252	Hypotonia	HP:0040281	ORPHA:899
79147	FKRP	HP:0001249	Intellectual disability	HP:0040281	ORPHA:370968
79147	FKRP	HP:0001249	Intellectual disability	-	ORPHA:370980
79147	FKRP	HP:0001249	Intellectual disability	-	OMIM:606612
79147	FKRP	HP:0001249	Intellectual disability	HP:0040281	ORPHA:899
79147	FKRP	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:899
79147	FKRP	HP:0001265	Hyporeflexia	-	OMIM:613153
79147	FKRP	HP:0001263	Global developmental delay	HP:0040282	ORPHA:370968
79147	FKRP	HP:0001263	Global developmental delay	HP:0040282	ORPHA:370959
79147	FKRP	HP:0001263	Global developmental delay	1/1	OMIM:236670
79147	FKRP	HP:0001263	Global developmental delay	HP:0040281	ORPHA:899
79147	FKRP	HP:0001262	Excessive daytime somnolence	-	OMIM:236670
79147	FKRP	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:899
79147	FKRP	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:588
79147	FKRP	HP:0007361	Abnormal pons morphology	HP:0040283	ORPHA:370968
79147	FKRP	HP:0002536	Abnormal cortical gyration	HP:0040281	ORPHA:899
79147	FKRP	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:370968
79147	FKRP	HP:0002515	Waddling gait	-	OMIM:607155
79147	FKRP	HP:0002515	Waddling gait	HP:0040282	ORPHA:34515
79147	FKRP	HP:0003828	Variable expressivity	-	OMIM:607155
79147	FKRP	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:370968
79147	FKRP	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:606612
79147	FKRP	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:370980
79147	FKRP	HP:0002500	Abnormal cerebral white matter morphology	1/1	OMIM:613153
79147	FKRP	HP:0032341	Reduced forced vital capacity	-	OMIM:607155
79147	FKRP	HP:0003819	Death in childhood	1/1	OMIM:613153
79147	FKRP	HP:0000054	Micropenis	HP:0040283	ORPHA:370968
79147	FKRP	HP:0000050	Hypoplastic male external genitalia	-	OMIM:236670
79147	FKRP	HP:0001349	Facial diplegia	HP:0040282	ORPHA:370980
79147	FKRP	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:370959
79147	FKRP	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:588
79147	FKRP	HP:0000028	Cryptorchidism	1/1	OMIM:236670
79147	FKRP	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:370968
79147	FKRP	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:899
79147	FKRP	HP:0008872	Feeding difficulties in infancy	2/2	OMIM:236670
79147	FKRP	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:899
79147	FKRP	HP:0001328	Specific learning disability	HP:0040281	ORPHA:899
79147	FKRP	HP:0001324	Muscle weakness	3/9	OMIM:606612
79147	FKRP	HP:0001324	Muscle weakness	HP:0040281	ORPHA:899
79147	FKRP	HP:0001344	Absent speech	1/1	OMIM:236670
79147	FKRP	HP:0001339	Lissencephaly	HP:0040281	ORPHA:899
79147	FKRP	HP:0001339	Lissencephaly	1/1	OMIM:613153
79147	FKRP	HP:0000007	Autosomal recessive inheritance	-	OMIM:613153
79147	FKRP	HP:0000007	Autosomal recessive inheritance	-	OMIM:606612
79147	FKRP	HP:0000007	Autosomal recessive inheritance	-	OMIM:607155
79147	FKRP	HP:0000007	Autosomal recessive inheritance	-	OMIM:236670
79147	FKRP	HP:0001305	Dandy-Walker malformation	2/2	OMIM:236670
79147	FKRP	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:899
79147	FKRP	HP:0001305	Dandy-Walker malformation	1/1	OMIM:613153
79147	FKRP	HP:0001302	Pachygyria	-	OMIM:236670
79147	FKRP	HP:0001302	Pachygyria	HP:0040281	ORPHA:899
79147	FKRP	HP:0001302	Pachygyria	HP:0040283	OMIM:606612
79147	FKRP	HP:0001302	Pachygyria	HP:0040284	ORPHA:370980
79147	FKRP	HP:0001302	Pachygyria	-	OMIM:613153
79147	FKRP	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:370968
79147	FKRP	HP:0002650	Scoliosis	HP:0040283	ORPHA:34515
79147	FKRP	HP:0002650	Scoliosis	HP:0040283	ORPHA:370968
79147	FKRP	HP:0002650	Scoliosis	1/9	OMIM:606612
79147	FKRP	HP:0002650	Scoliosis	-	OMIM:607155
79147	FKRP	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:236670
79147	FKRP	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:899
79147	FKRP	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:370968
79147	FKRP	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:370959
79147	FKRP	HP:0001321	Cerebellar hypoplasia	-	OMIM:613153
79147	FKRP	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:370959
79147	FKRP	HP:0001319	Neonatal hypotonia	-	OMIM:606612
79147	FKRP	HP:0001319	Neonatal hypotonia	1/1	OMIM:236670
79147	FKRP	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:370980
79147	FKRP	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:370968
79147	FKRP	HP:0000193	Bifid uvula	HP:0040283	ORPHA:899
79147	FKRP	HP:0000158	Macroglossia	-	OMIM:607155
79147	FKRP	HP:0000158	Macroglossia	3/9	OMIM:606612
79147	FKRP	HP:0000158	Macroglossia	HP:0040282	ORPHA:370959
79147	FKRP	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:899
79147	FKRP	HP:0000175	Cleft palate	-	OMIM:236670
79147	FKRP	HP:0000175	Cleft palate	HP:0040283	ORPHA:899
79147	FKRP	HP:0008981	Calf muscle hypertrophy	-	OMIM:607155
79147	FKRP	HP:0008981	Calf muscle hypertrophy	HP:0040282	ORPHA:370968
79147	FKRP	HP:0008981	Calf muscle hypertrophy	4/9	OMIM:606612
79147	FKRP	HP:0008981	Calf muscle hypertrophy	HP:0040282	ORPHA:34515
79147	FKRP	HP:0008947	Floppy infant	HP:0040281	ORPHA:370968
79147	FKRP	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:370959
79147	FKRP	HP:0012110	Hypoplasia of the pons	1/1	OMIM:613153
79147	FKRP	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	HP:0040281	ORPHA:899
79147	FKRP	HP:0000110	Renal dysplasia	-	OMIM:236670
79147	FKRP	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:370980
79147	FKRP	HP:0002023	Anal atresia	-	OMIM:236670
79147	FKRP	HP:0003327	Axial muscle weakness	HP:0040283	ORPHA:370968
79147	FKRP	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:370968
79147	FKRP	HP:0003326	Myalgia	-	OMIM:607155
79147	FKRP	HP:0003326	Myalgia	-	OMIM:606612
79147	FKRP	HP:0003326	Myalgia	HP:0040282	ORPHA:370980
79147	FKRP	HP:0002015	Dysphagia	1/9	OMIM:606612
79147	FKRP	HP:0003307	Hyperlordosis	-	OMIM:607155
79147	FKRP	HP:0003307	Hyperlordosis	-	OMIM:606612
79147	FKRP	HP:0004637	Decreased cervical spine mobility	HP:0040283	ORPHA:370968
79147	FKRP	HP:0003324	Generalized muscle weakness	9/9	OMIM:606612
79147	FKRP	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:370980
79147	FKRP	HP:0002085	Occipital encephalocele	HP:0040283	ORPHA:370959
79147	FKRP	HP:0002085	Occipital encephalocele	-	OMIM:236670
79147	FKRP	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:588
79147	FKRP	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:370968
79147	FKRP	HP:0002093	Respiratory insufficiency	-	OMIM:613153
79147	FKRP	HP:0002091	Restrictive ventilatory defect	-	OMIM:607155
79147	FKRP	HP:0002091	Restrictive ventilatory defect	1/9	OMIM:606612
79147	FKRP	HP:0003394	Muscle spasm	-	OMIM:607155
79147	FKRP	HP:0003394	Muscle spasm	-	OMIM:606612
79147	FKRP	HP:0003394	Muscle spasm	HP:0040282	ORPHA:370980
79147	FKRP	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:236670
79147	FKRP	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:370968
79147	FKRP	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:370980
79147	FKRP	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:370968
79147	FKRP	HP:0002119	Ventriculomegaly	HP:0040283	OMIM:606612
79147	FKRP	HP:0002119	Ventriculomegaly	-	OMIM:236670
79147	FKRP	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:899
79147	FKRP	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:370968
79147	FKRP	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:370980
79147	FKRP	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:370959
79147	FKRP	HP:0002119	Ventriculomegaly	1/1	OMIM:613153
79147	FKRP	HP:0003457	EMG abnormality	HP:0040281	ORPHA:588
79147	FKRP	HP:0002126	Polymicrogyria	-	OMIM:236670
79147	FKRP	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:899
79147	FKRP	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:370959
79147	FKRP	HP:0003458	EMG: myopathic abnormalities	-	OMIM:606612
79147	FKRP	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:370980
79147	FKRP	HP:0002187	Intellectual disability, profound	-	OMIM:236670
79147	FKRP	HP:0002187	Intellectual disability, profound	-	OMIM:613153
79147	FKRP	HP:0002198	Dilated fourth ventricle	HP:0040282	ORPHA:370959
79147	FKRP	HP:0002194	Delayed gross motor development	-	OMIM:606612
79147	FKRP	HP:0002169	Clonus	HP:0040283	ORPHA:370959
79147	FKRP	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:588
79147	FKRP	HP:0010508	Metatarsus valgus	HP:0040281	ORPHA:899
79147	FKRP	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:899
79147	FKRP	HP:0003577	Congenital onset	2/2	OMIM:236670
79147	FKRP	HP:0003577	Congenital onset	14/19	OMIM:606612
79147	FKRP	HP:0003577	Congenital onset	1/1	OMIM:613153
79147	FKRP	HP:0003551	Difficulty climbing stairs	-	OMIM:607155
79147	FKRP	HP:0003551	Difficulty climbing stairs	-	OMIM:606612
79147	FKRP	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:34515
79147	FKRP	HP:0003549	Abnormality of connective tissue	HP:0040283	ORPHA:370968
79147	FKRP	HP:0003547	Shoulder girdle muscle weakness	11/19	OMIM:606612
79147	FKRP	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:34515
79147	FKRP	HP:0003547	Shoulder girdle muscle weakness	-	OMIM:607155
79147	FKRP	HP:0003560	Muscular dystrophy	-	OMIM:236670
79147	FKRP	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:899
79147	FKRP	HP:0003560	Muscular dystrophy	-	OMIM:607155
79147	FKRP	HP:0003560	Muscular dystrophy	-	OMIM:606612
79147	FKRP	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:34515
79147	FKRP	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:370980
79147	FKRP	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:370959
79147	FKRP	HP:0003560	Muscular dystrophy	-	OMIM:613153
79147	FKRP	HP:0002282	Gray matter heterotopia	HP:0040282	ORPHA:370959
79147	FKRP	HP:0002282	Gray matter heterotopia	HP:0040284	ORPHA:370980
79147	FKRP	HP:0007033	Cerebellar dysplasia	-	OMIM:613153
79147	FKRP	HP:0007033	Cerebellar dysplasia	-	OMIM:236670
79147	FKRP	HP:0007015	Poor gross motor coordination	HP:0040282	ORPHA:370968
79147	FKRP	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:370968
79147	FKRP	HP:0011968	Feeding difficulties	4/9	OMIM:606612
79147	FKRP	HP:0011968	Feeding difficulties	1/1	OMIM:613153
79147	FKRP	HP:0010628	Facial palsy	HP:0040283	ORPHA:370968
79147	FKRP	HP:0010628	Facial palsy	-	OMIM:606612
79147	FKRP	HP:0008305	Exercise-induced myoglobinuria	25%	OMIM:607155
79147	FKRP	HP:0002365	Hypoplasia of the brainstem	1/1	OMIM:236670
79147	FKRP	HP:0002365	Hypoplasia of the brainstem	HP:0040282	ORPHA:370959
79147	FKRP	HP:0002365	Hypoplasia of the brainstem	1/1	OMIM:613153
79147	FKRP	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:370959
79147	FKRP	HP:0002359	Frequent falls	-	OMIM:607155
79147	FKRP	HP:0002359	Frequent falls	-	OMIM:606612
79147	FKRP	HP:0002359	Frequent falls	HP:0040283	ORPHA:34515
79147	FKRP	HP:0002359	Frequent falls	HP:0040282	ORPHA:370980
79147	FKRP	HP:0002335	Agenesis of cerebellar vermis	1/1	OMIM:613153
79147	FKRP	HP:0002353	EEG abnormality	HP:0040281	ORPHA:588
79147	FKRP	HP:0002350	Cerebellar cyst	HP:0040283	ORPHA:370959
79147	FKRP	HP:0002350	Cerebellar cyst	-	OMIM:606612
79147	FKRP	HP:0002350	Cerebellar cyst	1/1	OMIM:613153
79147	FKRP	HP:0002350	Cerebellar cyst	HP:0040283	ORPHA:370980
79147	FKRP	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040281	ORPHA:899
79147	FKRP	HP:0007204	Diffuse white matter abnormalities	HP:0040282	ORPHA:370959
79147	FKRP	HP:0007126	Proximal amyotrophy	2/2	OMIM:606612
79147	FKRP	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:370980
79147	FKRP	HP:0008443	Neuropathic spinal arthropathy	HP:0040283	ORPHA:370968
79147	FKRP	HP:0003623	Neonatal onset	5/9	OMIM:606612
79147	FKRP	HP:0006829	Severe muscular hypotonia	-	OMIM:236670
79147	FKRP	HP:0006829	Severe muscular hypotonia	-	OMIM:613153
79147	FKRP	HP:0031882	Agyria	1/1	OMIM:613153
79147	FKRP	HP:0031882	Agyria	2/2	OMIM:236670
79147	FKRP	HP:0006899	Fusion of the cerebellar hemispheres	HP:0040283	ORPHA:370959
79147	FKRP	HP:0006888	Meningoencephalocele	1/1	OMIM:236670
79147	FKRP	HP:0000648	Optic atrophy	HP:0040281	ORPHA:588
79147	FKRP	HP:0000648	Optic atrophy	1/2	OMIM:236670
79147	FKRP	HP:0000648	Optic atrophy	HP:0040281	ORPHA:899
79147	FKRP	HP:0000648	Optic atrophy	HP:0040283	ORPHA:370959
79147	FKRP	HP:0000618	Blindness	-	OMIM:236670
79147	FKRP	HP:0000618	Blindness	HP:0040284	ORPHA:370959
79147	FKRP	HP:0000612	Iris coloboma	HP:0040283	ORPHA:899
79147	FKRP	HP:0000609	Optic nerve hypoplasia	-	OMIM:236670
79147	FKRP	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:370959
79147	FKRP	HP:0012695	Decreased thalamic volume	HP:0040283	ORPHA:370959
79147	FKRP	HP:0009046	Difficulty running	HP:0040283	ORPHA:34515
79147	FKRP	HP:0000659	Peters anomaly	-	OMIM:236670
79147	FKRP	HP:0006955	Olivopontocerebellar hypoplasia	HP:0040283	ORPHA:370959
79147	FKRP	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:588
79147	FKRP	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:588
79147	FKRP	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:370968
79147	FKRP	HP:0012793	Kinked brainstem	1/2	OMIM:236670
79147	FKRP	HP:0003198	Myopathy	HP:0040281	ORPHA:588
79147	FKRP	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040281	ORPHA:899
79147	FKRP	HP:0003236	Elevated circulating creatine kinase concentration	9/9	OMIM:606612
79147	FKRP	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:34515
79147	FKRP	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:588
79147	FKRP	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:236670
79147	FKRP	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:370968
79147	FKRP	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:370959
79147	FKRP	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:607155
79147	FKRP	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:613153
79147	FKRP	HP:0003202	Skeletal muscle atrophy	1/9	OMIM:606612
79147	FKRP	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:899
79147	FKRP	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040281	ORPHA:899
79147	FKRP	HP:0034391	Elbow contracture	1/9	OMIM:606612
79147	FKRP	HP:0040173	Abnormality of the tongue muscle	HP:0040283	ORPHA:370968
79147	FKRP	HP:0000298	Mask-like facies	1/1	OMIM:236670
79147	FKRP	HP:0000294	Low anterior hairline	1/1	OMIM:613153
79147	FKRP	HP:0000256	Macrocephaly	HP:0040282	ORPHA:899
79147	FKRP	HP:0005109	Abnormality of the Achilles tendon	HP:0040282	ORPHA:34515
79147	FKRP	HP:0007731	Chorioretinal dysplasia	HP:0040281	ORPHA:899
79147	FKRP	HP:0002827	Hip dislocation	HP:0040283	ORPHA:370968
79147	FKRP	HP:0002828	Multiple joint contractures	HP:0040282	ORPHA:370968
79147	FKRP	HP:0002808	Kyphosis	-	OMIM:606612
79147	FKRP	HP:0002808	Kyphosis	-	OMIM:607155
79147	FKRP	HP:0002803	Congenital contracture	-	OMIM:236670
79147	FKRP	HP:0030092	Reduced muscle fiber merosin	HP:0040283	ORPHA:34515
79147	FKRP	HP:0030099	Reduced muscle fiber alpha dystroglycan	HP:0040281	ORPHA:370968
79147	FKRP	HP:0030099	Reduced muscle fiber alpha dystroglycan	HP:0040281	ORPHA:370959
79147	FKRP	HP:0030099	Reduced muscle fiber alpha dystroglycan	HP:0040281	ORPHA:34515
79147	FKRP	HP:0030099	Reduced muscle fiber alpha dystroglycan	HP:0040282	ORPHA:370980
79147	FKRP	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:588
79147	FKRP	HP:0000238	Hydrocephalus	1/2	OMIM:236670
79147	FKRP	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:899
79147	FKRP	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:370959
79147	FKRP	HP:0000238	Hydrocephalus	1/1	OMIM:613153
79147	FKRP	HP:0000252	Microcephaly	HP:0040282	ORPHA:370968
79147	FKRP	HP:0000252	Microcephaly	HP:0040283	ORPHA:370980
79147	FKRP	HP:0000252	Microcephaly	HP:0040282	ORPHA:370959
79147	FKRP	HP:0000252	Microcephaly	-	OMIM:606612
79147	FKRP	HP:0000252	Microcephaly	1/2	OMIM:236670
79147	FKRP	HP:0000252	Microcephaly	HP:0040283	ORPHA:899
79147	FKRP	HP:0002878	Respiratory failure	HP:0040283	ORPHA:370968
79147	FKRP	HP:0002878	Respiratory failure	1/9	OMIM:606612
79147	FKRP	HP:0002877	Nocturnal hypoventilation	-	OMIM:607155
79147	FKRP	HP:0000204	Cleft upper lip	-	OMIM:236670
79147	FKRP	HP:0030046	Hypoglycosylation of alpha-dystroglycan	HP:0040281	ORPHA:370968
79147	FKRP	HP:0030046	Hypoglycosylation of alpha-dystroglycan	HP:0040281	ORPHA:370959
79147	FKRP	HP:0030051	Tip-toe gait	-	OMIM:607155
79147	FKRP	HP:0030051	Tip-toe gait	-	OMIM:606612
79147	FKRP	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:370980
79147	FKRP	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:588
79147	FKRP	HP:0002938	Lumbar hyperlordosis	HP:0040282	ORPHA:370959
79147	FKRP	HP:0002948	Vertebral fusion	-	OMIM:606612
79147	FKRP	HP:0002948	Vertebral fusion	-	OMIM:607155
79147	FKRP	HP:0030197	Fatigable weakness of skeletal muscles	HP:0040282	ORPHA:370968
79147	FKRP	HP:0005162	Abnormal left ventricular function	-	OMIM:607155
79147	FKRP	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:899
79147	FKRP	HP:0000369	Low-set ears	1/2	OMIM:236670
79147	FKRP	HP:0000369	Low-set ears	HP:0040283	ORPHA:899
79147	FKRP	HP:0000340	Sloping forehead	1/2	OMIM:236670
79147	FKRP	HP:0000347	Micrognathia	1/2	OMIM:236670
79147	FKRP	HP:0001644	Dilated cardiomyopathy	-	OMIM:607155
79147	FKRP	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:34515
79147	FKRP	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:370959
79147	FKRP	HP:0007957	Corneal opacity	1/1	OMIM:236670
79147	FKRP	HP:0007957	Corneal opacity	HP:0040282	ORPHA:899
79147	FKRP	HP:0007957	Corneal opacity	1/1	OMIM:613153
79147	FKRP	HP:0030319	Weakness of facial musculature	1/9	OMIM:606612
79147	FKRP	HP:0007973	Retinal dysplasia	2/2	OMIM:236670
79147	FKRP	HP:0007973	Retinal dysplasia	HP:0040281	ORPHA:899
79147	FKRP	HP:0001712	Left ventricular hypertrophy	-	OMIM:613153
79147	FKRP	HP:0000486	Strabismus	HP:0040281	ORPHA:588
79147	FKRP	HP:0000486	Strabismus	HP:0040283	ORPHA:370968
79147	FKRP	HP:0000486	Strabismus	HP:0040283	ORPHA:370959
79147	FKRP	HP:0000485	Megalocornea	HP:0040283	ORPHA:370959
79147	FKRP	HP:0000485	Megalocornea	-	OMIM:236670
79147	FKRP	HP:0000482	Microcornea	HP:0040283	ORPHA:899
79147	FKRP	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:370968
79147	FKRP	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:370959
79147	FKRP	HP:0001771	Achilles tendon contracture	-	OMIM:607155
79147	FKRP	HP:0001771	Achilles tendon contracture	-	OMIM:606612
79147	FKRP	HP:0001771	Achilles tendon contracture	HP:0040282	ORPHA:370980
79147	FKRP	HP:0012400	Abnormal circulating aldolase concentration	HP:0040281	ORPHA:899
79147	FKRP	HP:0000411	Protruding ear	HP:0040283	ORPHA:899
79147	FKRP	HP:0000413	Atresia of the external auditory canal	-	OMIM:236670
79147	FKRP	HP:0000518	Cataract	HP:0040282	ORPHA:588
79147	FKRP	HP:0000518	Cataract	-	OMIM:236670
79147	FKRP	HP:0000518	Cataract	HP:0040283	ORPHA:899
79147	FKRP	HP:0000518	Cataract	HP:0040283	ORPHA:370959
79147	FKRP	HP:0000518	Cataract	-	OMIM:613153
79147	FKRP	HP:0000528	Anophthalmia	HP:0040282	ORPHA:899
79147	FKRP	HP:0000525	Abnormality iris morphology	HP:0040283	ORPHA:370959
79147	FKRP	HP:0000505	Visual impairment	HP:0040281	ORPHA:588
79147	FKRP	HP:0000501	Glaucoma	HP:0040281	ORPHA:588
79147	FKRP	HP:0000501	Glaucoma	-	OMIM:236670
79147	FKRP	HP:0000501	Glaucoma	HP:0040282	ORPHA:899
79147	FKRP	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:370968
79147	FKRP	HP:0000587	Abnormal optic nerve morphology	HP:0040281	ORPHA:899
79147	FKRP	HP:0000589	Coloboma	HP:0040283	ORPHA:370959
79147	FKRP	HP:0000589	Coloboma	-	OMIM:236670
79147	FKRP	HP:0000589	Coloboma	1/1	OMIM:613153
79147	FKRP	HP:0012548	Fatty replacement of skeletal muscle	HP:0040282	ORPHA:370980
79147	FKRP	HP:0000557	Buphthalmos	-	OMIM:236670
79147	FKRP	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:899
79147	FKRP	HP:0000568	Microphthalmia	1/1	OMIM:236670
79147	FKRP	HP:0000568	Microphthalmia	HP:0040282	ORPHA:899
79147	FKRP	HP:0000568	Microphthalmia	HP:0040284	ORPHA:370959
79147	FKRP	HP:0000568	Microphthalmia	1/1	OMIM:613153
79147	FKRP	HP:0000541	Retinal detachment	-	OMIM:236670
79147	FKRP	HP:0000541	Retinal detachment	HP:0040281	ORPHA:899
79147	FKRP	HP:0000541	Retinal detachment	HP:0040284	ORPHA:370959
79147	FKRP	HP:0000541	Retinal detachment	-	OMIM:613153
79147	FKRP	HP:0000545	Myopia	HP:0040281	ORPHA:588
79147	FKRP	HP:0000545	Myopia	-	OMIM:236670
79147	FKRP	HP:0000545	Myopia	HP:0040283	ORPHA:370968
79147	FKRP	HP:0000545	Myopia	HP:0040283	ORPHA:370959
79147	FKRP	HP:0000545	Myopia	-	OMIM:613153
79152	FA2H	HP:0002478	Progressive spastic quadriplegia	HP:0040282	ORPHA:329308
79152	FA2H	HP:0002493	Upper motor neuron dysfunction	HP:0040282	ORPHA:329308
79152	FA2H	HP:0002454	Eye of the tiger anomaly of globus pallidus	HP:0040283	ORPHA:171629
79152	FA2H	HP:0001123	Visual field defect	HP:0040282	ORPHA:329308
79152	FA2H	HP:0007325	Generalized dystonia	HP:0040282	ORPHA:329308
79152	FA2H	HP:0007325	Generalized dystonia	HP:0040282	ORPHA:171629
79152	FA2H	HP:0007302	Bipolar affective disorder	HP:0040284	ORPHA:329308
79152	FA2H	HP:0007240	Progressive gait ataxia	HP:0040281	ORPHA:329308
79152	FA2H	HP:0002427	Expressive aphasia	HP:0040282	ORPHA:329308
79152	FA2H	HP:0002425	Anarthria	HP:0040282	ORPHA:329308
79152	FA2H	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:171629
79152	FA2H	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:329308
79152	FA2H	HP:0001272	Cerebellar atrophy	-	OMIM:612319
79152	FA2H	HP:0001268	Mental deterioration	HP:0040281	ORPHA:329308
79152	FA2H	HP:0001268	Mental deterioration	-	OMIM:612319
79152	FA2H	HP:0001268	Mental deterioration	HP:0040282	ORPHA:171629
79152	FA2H	HP:0001288	Gait disturbance	HP:0040281	ORPHA:171629
79152	FA2H	HP:0001288	Gait disturbance	9/9	OMIM:612319
79152	FA2H	HP:0001285	Spastic tetraparesis	HP:0040282	ORPHA:171629
79152	FA2H	HP:0001285	Spastic tetraparesis	-	OMIM:612319
79152	FA2H	HP:0001250	Seizure	HP:0040283	ORPHA:171629
79152	FA2H	HP:0001250	Seizure	2/9	OMIM:612319
79152	FA2H	HP:0001251	Ataxia	-	OMIM:612319
79152	FA2H	HP:0001249	Intellectual disability	HP:0040282	ORPHA:171629
79152	FA2H	HP:0001249	Intellectual disability	-	OMIM:612319
79152	FA2H	HP:0001260	Dysarthria	HP:0040282	ORPHA:171629
79152	FA2H	HP:0001260	Dysarthria	HP:0040282	ORPHA:329308
79152	FA2H	HP:0001260	Dysarthria	-	OMIM:612319
79152	FA2H	HP:0001258	Spastic paraplegia	-	OMIM:612319
79152	FA2H	HP:0001258	Spastic paraplegia	HP:0040281	ORPHA:171629
79152	FA2H	HP:0007371	Corpus callosum atrophy	HP:0040282	ORPHA:171629
79152	FA2H	HP:0007366	Atrophy/Degeneration affecting the brainstem	HP:0040282	ORPHA:171629
79152	FA2H	HP:0007366	Atrophy/Degeneration affecting the brainstem	-	OMIM:612319
79152	FA2H	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:329308
79152	FA2H	HP:0002518	Abnormal periventricular white matter morphology	-	OMIM:612319
79152	FA2H	HP:0002527	Falls	HP:0040281	ORPHA:329308
79152	FA2H	HP:0002505	Loss of ambulation	HP:0040282	ORPHA:329308
79152	FA2H	HP:0000020	Urinary incontinence	HP:0040283	OMIM:612319
79152	FA2H	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:171629
79152	FA2H	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:171629
79152	FA2H	HP:0001347	Hyperreflexia	-	OMIM:612319
79152	FA2H	HP:0001332	Dystonia	7/9	OMIM:612319
79152	FA2H	HP:0033725	Thin corpus callosum	3/9	OMIM:612319
79152	FA2H	HP:0000012	Urinary urgency	-	OMIM:612319
79152	FA2H	HP:0000007	Autosomal recessive inheritance	-	OMIM:612319
79152	FA2H	HP:0001310	Dysmetria	-	OMIM:612319
79152	FA2H	HP:0001310	Dysmetria	HP:0040282	ORPHA:171629
79152	FA2H	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:171629
79152	FA2H	HP:0002015	Dysphagia	HP:0040284	ORPHA:329308
79152	FA2H	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:171629
79152	FA2H	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:329308
79152	FA2H	HP:0002061	Lower limb spasticity	9/9	OMIM:612319
79152	FA2H	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:171629
79152	FA2H	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:171629
79152	FA2H	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:329308
79152	FA2H	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:612319
79152	FA2H	HP:0002075	Dysdiadochokinesis	HP:0040282	ORPHA:171629
79152	FA2H	HP:0002075	Dysdiadochokinesis	-	OMIM:612319
79152	FA2H	HP:0100515	Pollakisuria	HP:0040283	ORPHA:171629
79152	FA2H	HP:0003487	Babinski sign	HP:0040281	ORPHA:171629
79152	FA2H	HP:0003487	Babinski sign	-	OMIM:612319
79152	FA2H	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:171629
79152	FA2H	HP:0002180	Neurodegeneration	-	OMIM:612319
79152	FA2H	HP:0010677	Enuresis nocturna	HP:0040283	ORPHA:171629
79152	FA2H	HP:0007020	Progressive spastic paraplegia	HP:0040281	ORPHA:329308
79152	FA2H	HP:0002359	Frequent falls	HP:0040282	ORPHA:171629
79152	FA2H	HP:0003676	Progressive	-	OMIM:612319
79152	FA2H	HP:0009830	Peripheral neuropathy	HP:0040284	ORPHA:329308
79152	FA2H	HP:0007153	Progressive extrapyramidal movement disorder	HP:0040282	ORPHA:329308
79152	FA2H	HP:0003621	Juvenile onset	2/9	OMIM:612319
79152	FA2H	HP:0007199	Progressive spastic paraparesis	HP:0040282	ORPHA:329308
79152	FA2H	HP:0006855	Cerebellar vermis atrophy	HP:0040282	ORPHA:329308
79152	FA2H	HP:0006827	Atrophy of the spinal cord	HP:0040282	ORPHA:329308
79152	FA2H	HP:0006895	Lower limb hypertonia	HP:0040282	ORPHA:171629
79152	FA2H	HP:0006879	Pontocerebellar atrophy	HP:0040283	ORPHA:171629
79152	FA2H	HP:0000639	Nystagmus	-	OMIM:612319
79152	FA2H	HP:0000648	Optic atrophy	HP:0040284	ORPHA:171629
79152	FA2H	HP:0000648	Optic atrophy	HP:0040282	ORPHA:329308
79152	FA2H	HP:0000648	Optic atrophy	-	OMIM:612319
79152	FA2H	HP:0000605	Supranuclear gaze palsy	HP:0040282	ORPHA:329308
79152	FA2H	HP:0000602	Ophthalmoplegia	HP:0040284	ORPHA:171629
79152	FA2H	HP:0009027	Foot dorsiflexor weakness	HP:0040281	ORPHA:171629
79152	FA2H	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:171629
79152	FA2H	HP:0000666	Horizontal nystagmus	HP:0040282	ORPHA:329308
79152	FA2H	HP:0005656	Positional foot deformity	HP:0040283	ORPHA:171629
79152	FA2H	HP:0006978	Dysmyelinating leukodystrophy	-	OMIM:612319
79152	FA2H	HP:0000739	Anxiety	HP:0040284	ORPHA:329308
79152	FA2H	HP:0000716	Depression	HP:0040284	ORPHA:329308
79152	FA2H	HP:0030584	Color vision test abnormality	HP:0040282	ORPHA:329308
79152	FA2H	HP:0011463	Childhood onset	7/9	OMIM:612319
79152	FA2H	HP:0011448	Ankle clonus	HP:0040282	ORPHA:171629
79152	FA2H	HP:0011448	Ankle clonus	HP:0040283	OMIM:612319
79152	FA2H	HP:0000298	Mask-like facies	HP:0040283	ORPHA:171629
79152	FA2H	HP:0002808	Kyphosis	HP:0040283	ORPHA:171629
79152	FA2H	HP:0011096	Peripheral demyelination	HP:0040283	ORPHA:171629
79152	FA2H	HP:0007924	Slow decrease in visual acuity	HP:0040282	ORPHA:329308
79152	FA2H	HP:0000486	Strabismus	HP:0040283	ORPHA:329308
79152	FA2H	HP:0000486	Strabismus	-	OMIM:612319
79152	FA2H	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:171629
79152	FA2H	HP:0000544	External ophthalmoplegia	HP:0040283	OMIM:612319
79158	GNPTAB	HP:0001171	Split hand	-	OMIM:252500
79158	GNPTAB	HP:0002465	Poor speech	HP:0040282	ORPHA:576
79158	GNPTAB	HP:0002474	Expressive language delay	HP:0040281	ORPHA:576
79158	GNPTAB	HP:0002421	Poor head control	1/7	OMIM:252500
79158	GNPTAB	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
79158	GNPTAB	HP:0001293	Cranial nerve compression	-	OMIM:131300
79158	GNPTAB	HP:0001290	Generalized hypotonia	2/7	OMIM:252500
79158	GNPTAB	HP:0001276	Hypertonia	1/1	OMIM:252600
79158	GNPTAB	HP:0001270	Motor delay	HP:0040281	ORPHA:576
79158	GNPTAB	HP:0001288	Gait disturbance	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0001252	Hypotonia	1/5	OMIM:252500
79158	GNPTAB	HP:0001252	Hypotonia	2/7	OMIM:615777
79158	GNPTAB	HP:0001249	Intellectual disability	0/1	OMIM:252600
79158	GNPTAB	HP:0001249	Intellectual disability	5/7	OMIM:615777
79158	GNPTAB	HP:0001265	Hyporeflexia	1/7	OMIM:252500
79158	GNPTAB	HP:0001263	Global developmental delay	7/9	OMIM:252500
79158	GNPTAB	HP:0001263	Global developmental delay	1/1	OMIM:252600
79158	GNPTAB	HP:0001263	Global developmental delay	-	OMIM:615777
79158	GNPTAB	HP:0007421	Telangiectases of the cheeks	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0002540	Inability to walk	HP:0040282	ORPHA:576
79158	GNPTAB	HP:0002515	Waddling gait	54/102	OMIM:131300
79158	GNPTAB	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:423461
79158	GNPTAB	HP:0003819	Death in childhood	-	OMIM:252500
79158	GNPTAB	HP:0012069	Keratan sulfate excretion in urine	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0001376	Limitation of joint mobility	1/7	OMIM:252500
79158	GNPTAB	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:576
79158	GNPTAB	HP:0001376	Limitation of joint mobility	1/1	OMIM:252600
79158	GNPTAB	HP:0001371	Flexion contracture	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0001385	Hip dysplasia	1/7	OMIM:252500
79158	GNPTAB	HP:0001387	Joint stiffness	HP:0040281	ORPHA:423461
79158	GNPTAB	HP:0001382	Joint hypermobility	-	OMIM:615777
79158	GNPTAB	HP:0000023	Inguinal hernia	1/7	OMIM:252500
79158	GNPTAB	HP:0000023	Inguinal hernia	6/10	OMIM:252600
79158	GNPTAB	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0002684	Thickened calvaria	-	OMIM:252500
79158	GNPTAB	HP:0002680	J-shaped sella turcica	-	OMIM:252600
79158	GNPTAB	HP:0001363	Craniosynostosis	1/7	OMIM:252500
79158	GNPTAB	HP:0001363	Craniosynostosis	1/1	OMIM:252600
79158	GNPTAB	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:576
79158	GNPTAB	HP:0002694	Sclerosis of skull base	-	OMIM:131300
79158	GNPTAB	HP:0002690	Large sella turcica	-	OMIM:252500
79158	GNPTAB	HP:0001357	Plagiocephaly	1/1	OMIM:252600
79158	GNPTAB	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:423461
79158	GNPTAB	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:576
79158	GNPTAB	HP:0008897	Postnatal growth retardation	-	OMIM:615777
79158	GNPTAB	HP:0006203	Decreased movement range in interphalangeal joints	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0008850	Severe postnatal growth retardation	-	OMIM:252500
79158	GNPTAB	HP:0006162	Soft tissue swelling of interphalangeal joints	-	OMIM:252600
79158	GNPTAB	HP:0033725	Thin corpus callosum	1/7	OMIM:252500
79158	GNPTAB	HP:0001328	Specific learning disability	-	OMIM:252600
79158	GNPTAB	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
79158	GNPTAB	HP:0001324	Muscle weakness	40/96	OMIM:131300
79158	GNPTAB	HP:0002673	Coxa valga	2/5	OMIM:252500
79158	GNPTAB	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
79158	GNPTAB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
79158	GNPTAB	HP:0000007	Autosomal recessive inheritance	-	OMIM:252500
79158	GNPTAB	HP:0000007	Autosomal recessive inheritance	-	OMIM:252600
79158	GNPTAB	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
79158	GNPTAB	HP:0002653	Bone pain	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0002650	Scoliosis	1/1	OMIM:252600
79158	GNPTAB	HP:0002650	Scoliosis	12/14	OMIM:131300
79158	GNPTAB	HP:0001319	Neonatal hypotonia	-	OMIM:252500
79158	GNPTAB	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
79158	GNPTAB	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
79158	GNPTAB	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
79158	GNPTAB	HP:0012185	Constrictive median neuropathy	HP:0040283	ORPHA:423461
79158	GNPTAB	HP:0012185	Constrictive median neuropathy	1/1	OMIM:252600
79158	GNPTAB	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
79158	GNPTAB	HP:0001498	Carpal bone hypoplasia	-	OMIM:252600
79158	GNPTAB	HP:0001498	Carpal bone hypoplasia	-	OMIM:252500
79158	GNPTAB	HP:0000158	Macroglossia	1/7	OMIM:252500
79158	GNPTAB	HP:0000175	Cleft palate	2/7	OMIM:615777
79158	GNPTAB	HP:0002797	Osteolysis	HP:0040283	ORPHA:423461
79158	GNPTAB	HP:0000154	Wide mouth	1/7	OMIM:252500
79158	GNPTAB	HP:0008936	Axial hypotonia	1/7	OMIM:252500
79158	GNPTAB	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0006248	Limited wrist movement	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0002788	Recurrent upper respiratory tract infections	HP:0040283	ORPHA:423461
79158	GNPTAB	HP:0002756	Pathologic fracture	-	OMIM:252500
79158	GNPTAB	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0000105	Enlarged kidney	1/7	OMIM:252500
79158	GNPTAB	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0003333	Increased serum beta-hexosaminidase	-	OMIM:252600
79158	GNPTAB	HP:0003333	Increased serum beta-hexosaminidase	-	OMIM:252500
79158	GNPTAB	HP:0003311	Hypoplasia of the odontoid process	-	OMIM:252500
79158	GNPTAB	HP:0003307	Hyperlordosis	1/1	OMIM:252600
79158	GNPTAB	HP:0003320	C1-C2 subluxation	1/1	OMIM:252600
79158	GNPTAB	HP:0003302	Spondylolisthesis	1/1	OMIM:252600
79158	GNPTAB	HP:0003300	Ovoid vertebral bodies	-	OMIM:252500
79158	GNPTAB	HP:0004626	Lumbar scoliosis	1/7	OMIM:252500
79158	GNPTAB	HP:0100540	Palpebral edema	-	OMIM:252500
79158	GNPTAB	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:423461
79158	GNPTAB	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:576
79158	GNPTAB	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:576
79158	GNPTAB	HP:0003388	Easy fatigability	36/76	OMIM:131300
79158	GNPTAB	HP:0010444	Pulmonic regurgitation	HP:0040282	ORPHA:576
79158	GNPTAB	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
79158	GNPTAB	HP:0008155	Mucopolysacchariduria	1/10	OMIM:252600
79158	GNPTAB	HP:0008155	Mucopolysacchariduria	-	OMIM:252500
79158	GNPTAB	HP:0010471	Oligosacchariduria	HP:0040281	ORPHA:423461
79158	GNPTAB	HP:0002120	Cerebral cortical atrophy	1/7	OMIM:252500
79158	GNPTAB	HP:0003423	Thoracolumbar kyphoscoliosis	-	OMIM:252500
79158	GNPTAB	HP:0003414	Atlantoaxial dislocation	-	OMIM:252500
79158	GNPTAB	HP:0002196	Myelopathy	-	OMIM:252500
79158	GNPTAB	HP:0003593	Infantile onset	5/7	OMIM:252500
79158	GNPTAB	HP:0003593	Infantile onset	1/1	OMIM:252600
79158	GNPTAB	HP:0002240	Hepatomegaly	1/7	OMIM:252500
79158	GNPTAB	HP:0002240	Hepatomegaly	6/13	OMIM:252600
79158	GNPTAB	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040284	ORPHA:576
79158	GNPTAB	HP:0002213	Fine hair	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0003538	Increased iduronate sulfatase level	1/1	OMIM:252600
79158	GNPTAB	HP:0003538	Increased iduronate sulfatase level	-	OMIM:252500
79158	GNPTAB	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0002299	Brittle hair	1/7	OMIM:252500
79158	GNPTAB	HP:0003510	Severe short stature	7/7	OMIM:615777
79158	GNPTAB	HP:0001048	Cavernous hemangioma	-	OMIM:252500
79158	GNPTAB	HP:0001010	Hypopigmentation of the skin	1/7	OMIM:252500
79158	GNPTAB	HP:0002315	Headache	-	OMIM:131300
79158	GNPTAB	HP:0004976	Knee dislocation	6/7	OMIM:615777
79158	GNPTAB	HP:0001072	Thickened skin	HP:0040281	ORPHA:576
79158	GNPTAB	HP:0001072	Thickened skin	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0001072	Thickened skin	-	OMIM:252600
79158	GNPTAB	HP:0009803	Short phalanx of finger	-	OMIM:615777
79158	GNPTAB	HP:0008491	Premature anterior fontanel closure	1/7	OMIM:252500
79158	GNPTAB	HP:0008470	Lower thoracic interpediculate narrowness	-	OMIM:252500
79158	GNPTAB	HP:0009763	Limb pain	63/92	OMIM:131300
79158	GNPTAB	HP:0008439	Lumbar hemivertebrae	1/1	OMIM:252600
79158	GNPTAB	HP:0009769	Bullet-shaped phalanges of the hand	-	OMIM:252500
79158	GNPTAB	HP:0003621	Juvenile onset	3/4	OMIM:252600
79158	GNPTAB	HP:0003621	Juvenile onset	-	OMIM:131300
79158	GNPTAB	HP:0007178	Motor polyneuropathy	1/1	OMIM:252600
79158	GNPTAB	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
79158	GNPTAB	HP:0009092	Progressive alveolar ridge hypertrophy	-	OMIM:252500
79158	GNPTAB	HP:0004236	Irregular carpal bones	-	OMIM:252600
79158	GNPTAB	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
79158	GNPTAB	HP:6001056	Out-toeing	-	OMIM:131300
79158	GNPTAB	HP:0000651	Diplopia	-	OMIM:131300
79158	GNPTAB	HP:0001956	Truncal obesity	2/7	OMIM:615777
79158	GNPTAB	HP:0001903	Anemia	HP:0040283	OMIM:131300
79158	GNPTAB	HP:0010049	Short metacarpal	-	OMIM:615777
79158	GNPTAB	HP:0011359	Dry hair	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0011364	White hair	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0011344	Severe global developmental delay	-	OMIM:252500
79158	GNPTAB	HP:0012666	Severely reduced left ventricular ejection fraction	1/1	OMIM:252600
79158	GNPTAB	HP:0009023	Abdominal wall muscle weakness	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0000678	Dental crowding	-	OMIM:615777
79158	GNPTAB	HP:0011314	Abnormal long bone morphology	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0000670	Carious teeth	-	OMIM:131300
79158	GNPTAB	HP:0011304	Broad thumb	2/7	OMIM:615777
79158	GNPTAB	HP:0000668	Hypodontia	-	OMIM:615777
79158	GNPTAB	HP:0000664	Synophrys	-	OMIM:615777
79158	GNPTAB	HP:0004322	Short stature	HP:0040281	ORPHA:576
79158	GNPTAB	HP:0004322	Short stature	-	OMIM:252600
79158	GNPTAB	HP:0004322	Short stature	HP:0040281	ORPHA:423461
79158	GNPTAB	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:576
79158	GNPTAB	HP:0004396	Poor appetite	-	OMIM:131300
79158	GNPTAB	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
79158	GNPTAB	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
79158	GNPTAB	HP:0003016	Metaphyseal widening	-	OMIM:252500
79158	GNPTAB	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
79158	GNPTAB	HP:0003026	Short long bone	-	OMIM:252500
79158	GNPTAB	HP:0003026	Short long bone	7/7	OMIM:615777
79158	GNPTAB	HP:0003026	Short long bone	-	OMIM:252600
79158	GNPTAB	HP:0031936	Delayed ability to walk	1/7	OMIM:252500
79158	GNPTAB	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
79158	GNPTAB	HP:0000767	Pectus excavatum	1/7	OMIM:252500
79158	GNPTAB	HP:0000767	Pectus excavatum	2/7	OMIM:615777
79158	GNPTAB	HP:0000768	Pectus carinatum	1/1	OMIM:252600
79158	GNPTAB	HP:0000768	Pectus carinatum	1/7	OMIM:615777
79158	GNPTAB	HP:0000763	Sensory neuropathy	1/1	OMIM:252600
79158	GNPTAB	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
79158	GNPTAB	HP:0000750	Delayed speech and language development	-	OMIM:615777
79158	GNPTAB	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040284	ORPHA:576
79158	GNPTAB	HP:0011463	Childhood onset	1/7	OMIM:252500
79158	GNPTAB	HP:0011463	Childhood onset	2/5	OMIM:252600
79158	GNPTAB	HP:0011462	Young adult onset	1/1	OMIM:252600
79158	GNPTAB	HP:0011461	Fetal onset	1/7	OMIM:252500
79158	GNPTAB	HP:0011461	Fetal onset	7/7	OMIM:615777
79158	GNPTAB	HP:0000774	Narrow chest	HP:0040282	ORPHA:576
79158	GNPTAB	HP:0000774	Narrow chest	2/7	OMIM:615777
79158	GNPTAB	HP:0000773	Short ribs	-	OMIM:252600
79158	GNPTAB	HP:0000926	Platyspondyly	1/7	OMIM:615777
79158	GNPTAB	HP:0003182	Shallow acetabular fossae	-	OMIM:252600
79158	GNPTAB	HP:0003180	Flat acetabular roof	-	OMIM:615777
79158	GNPTAB	HP:0003180	Flat acetabular roof	-	OMIM:252500
79158	GNPTAB	HP:0004482	Relative macrocephaly	-	OMIM:615777
79158	GNPTAB	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
79158	GNPTAB	HP:0000882	Hypoplastic scapulae	-	OMIM:252500
79158	GNPTAB	HP:0000885	Broad ribs	-	OMIM:252600
79158	GNPTAB	HP:0000823	Delayed puberty	-	OMIM:131300
79158	GNPTAB	HP:0000894	Short clavicles	-	OMIM:615777
79158	GNPTAB	HP:0004562	Beaking of vertebral bodies T12-L3	-	OMIM:252500
79158	GNPTAB	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
79158	GNPTAB	HP:0045027	Abnormality of the thoracic cavity	HP:0040282	ORPHA:576
79158	GNPTAB	HP:0003273	Hip contracture	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0045075	Sparse eyebrow	-	OMIM:252500
79158	GNPTAB	HP:0003264	Deficiency of N-acetylglucosamine-1-phosphotransferase	1/1	OMIM:252600
79158	GNPTAB	HP:0003264	Deficiency of N-acetylglucosamine-1-phosphotransferase	-	OMIM:252500
79158	GNPTAB	HP:0010307	Stridor	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0034337	Claw hand deformity	1/1	OMIM:252600
79158	GNPTAB	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
79158	GNPTAB	HP:0000938	Osteopenia	-	OMIM:252500
79158	GNPTAB	HP:0000943	Dysostosis multiplex	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0000943	Dysostosis multiplex	1/1	OMIM:252600
79158	GNPTAB	HP:0040160	Generalized osteoporosis	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0008070	Sparse hair	1/7	OMIM:252500
79158	GNPTAB	HP:0000286	Epicanthus	-	OMIM:252500
79158	GNPTAB	HP:0000286	Epicanthus	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0000286	Epicanthus	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0000286	Epicanthus	1/7	OMIM:615777
79158	GNPTAB	HP:0000280	Coarse facial features	5/12	OMIM:252500
79158	GNPTAB	HP:0000280	Coarse facial features	1/2	OMIM:252600
79158	GNPTAB	HP:0000280	Coarse facial features	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0000280	Coarse facial features	HP:0040281	ORPHA:576
79158	GNPTAB	HP:0000280	Coarse facial features	2/7	OMIM:615777
79158	GNPTAB	HP:0000293	Full cheeks	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0006467	Limited shoulder movement	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0007759	Opacification of the corneal stroma	-	OMIM:252500
79158	GNPTAB	HP:0007759	Opacification of the corneal stroma	-	OMIM:252600
79158	GNPTAB	HP:0002827	Hip dislocation	-	OMIM:252500
79158	GNPTAB	HP:0002827	Hip dislocation	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0002827	Hip dislocation	3/7	OMIM:615777
79158	GNPTAB	HP:0002808	Kyphosis	1/1	OMIM:252600
79158	GNPTAB	HP:0002808	Kyphosis	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0002804	Arthrogryposis multiplex congenita	1/7	OMIM:252500
79158	GNPTAB	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0006380	Knee flexion contracture	1/1	OMIM:252600
79158	GNPTAB	HP:0006362	Varus deformity of humeral neck	-	OMIM:252500
79158	GNPTAB	HP:0000243	Trigonocephaly	1/7	OMIM:252500
79158	GNPTAB	HP:0000243	Trigonocephaly	1/1	OMIM:252600
79158	GNPTAB	HP:0000252	Microcephaly	1/1	OMIM:252600
79158	GNPTAB	HP:0000252	Microcephaly	-	OMIM:615777
79158	GNPTAB	HP:0001547	Abnormal rib cage morphology	-	OMIM:252500
79158	GNPTAB	HP:0000212	Gingival overgrowth	5/12	OMIM:252500
79158	GNPTAB	HP:0000212	Gingival overgrowth	HP:0040281	ORPHA:576
79158	GNPTAB	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0002857	Genu valgum	-	OMIM:131300
79158	GNPTAB	HP:0001540	Diastasis recti	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0001540	Diastasis recti	HP:0040283	ORPHA:423461
79158	GNPTAB	HP:0001540	Diastasis recti	1/7	OMIM:252500
79158	GNPTAB	HP:0002870	Obstructive sleep apnea	HP:0040282	ORPHA:576
79158	GNPTAB	HP:0002869	Flared iliac wing	-	OMIM:252500
79158	GNPTAB	HP:0001537	Umbilical hernia	-	OMIM:252500
79158	GNPTAB	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:423461
79158	GNPTAB	HP:0001537	Umbilical hernia	HP:0040281	ORPHA:576
79158	GNPTAB	HP:0001538	Protuberant abdomen	-	OMIM:252500
79158	GNPTAB	HP:0001538	Protuberant abdomen	HP:0040281	ORPHA:576
79158	GNPTAB	HP:0001533	Slender build	-	OMIM:131300
79158	GNPTAB	HP:0001508	Failure to thrive	-	OMIM:252500
79158	GNPTAB	HP:0001508	Failure to thrive	1/1	OMIM:252600
79158	GNPTAB	HP:0030043	Hip subluxation	3/12	OMIM:252500
79158	GNPTAB	HP:0002837	Recurrent bronchitis	-	OMIM:252500
79158	GNPTAB	HP:0001518	Small for gestational age	1/1	OMIM:252600
79158	GNPTAB	HP:0030051	Tip-toe gait	1/5	OMIM:252500
79158	GNPTAB	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
79158	GNPTAB	HP:0001510	Growth delay	5/12	OMIM:252500
79158	GNPTAB	HP:0007807	Optic nerve compression	-	OMIM:131300
79158	GNPTAB	HP:0012389	Appendicular hypotonia	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0012385	Camptodactyly	1/7	OMIM:252500
79158	GNPTAB	HP:0012368	Flat face	HP:0040282	ORPHA:576
79158	GNPTAB	HP:0012368	Flat face	7/7	OMIM:615777
79158	GNPTAB	HP:0000388	Otitis media	HP:0040282	ORPHA:576
79158	GNPTAB	HP:0006596	Restricted chest movement	HP:0040281	ORPHA:576
79158	GNPTAB	HP:0006532	Recurrent pneumonia	-	OMIM:252500
79158	GNPTAB	HP:0001609	Hoarse voice	-	OMIM:252500
79158	GNPTAB	HP:0001609	Hoarse voice	HP:0040281	ORPHA:576
79158	GNPTAB	HP:0001609	Hoarse voice	HP:0040283	ORPHA:423461
79158	GNPTAB	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
79158	GNPTAB	HP:0000365	Hearing impairment	10/67	OMIM:131300
79158	GNPTAB	HP:0000369	Low-set ears	1/1	OMIM:252600
79158	GNPTAB	HP:0000341	Narrow forehead	-	OMIM:252500
79158	GNPTAB	HP:0000343	Long philtrum	-	OMIM:252500
79158	GNPTAB	HP:0000343	Long philtrum	1/7	OMIM:615777
79158	GNPTAB	HP:0011001	Increased bone mineral density	-	OMIM:131300
79158	GNPTAB	HP:0001667	Right ventricular hypertrophy	HP:0040283	ORPHA:423461
79158	GNPTAB	HP:0000348	High forehead	1/7	OMIM:252500
79158	GNPTAB	HP:0000347	Micrognathia	1/7	OMIM:252500
79158	GNPTAB	HP:0000316	Hypertelorism	1/7	OMIM:252500
79158	GNPTAB	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0000311	Round face	2/7	OMIM:615777
79158	GNPTAB	HP:0030148	Heart murmur	-	OMIM:252500
79158	GNPTAB	HP:0001659	Aortic regurgitation	1/5	OMIM:252500
79158	GNPTAB	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0001659	Aortic regurgitation	-	OMIM:252600
79158	GNPTAB	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0001653	Mitral regurgitation	1/5	OMIM:252500
79158	GNPTAB	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:576
79158	GNPTAB	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0001640	Cardiomegaly	-	OMIM:252500
79158	GNPTAB	HP:0002970	Genu varum	-	OMIM:615777
79158	GNPTAB	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:252500
79158	GNPTAB	HP:0001635	Congestive heart failure	-	OMIM:252500
79158	GNPTAB	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:423461
79158	GNPTAB	HP:0001638	Cardiomyopathy	1/1	OMIM:252600
79158	GNPTAB	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0000303	Mandibular prognathia	-	OMIM:131300
79158	GNPTAB	HP:0000303	Mandibular prognathia	-	OMIM:252600
79158	GNPTAB	HP:0001633	Abnormal mitral valve morphology	HP:0040282	ORPHA:576
79158	GNPTAB	HP:0007957	Corneal opacity	HP:0040283	ORPHA:423461
79158	GNPTAB	HP:0006610	Wide intermamillary distance	-	OMIM:252500
79158	GNPTAB	HP:0031650	Abnormal atrioventricular valve physiology	HP:0040281	ORPHA:576
79158	GNPTAB	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:576
79158	GNPTAB	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:423461
79158	GNPTAB	HP:0000403	Recurrent otitis media	-	OMIM:252500
79158	GNPTAB	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:576
79158	GNPTAB	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0005280	Depressed nasal bridge	1/7	OMIM:252500
79158	GNPTAB	HP:0005280	Depressed nasal bridge	1/1	OMIM:252600
79158	GNPTAB	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:576
79158	GNPTAB	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
79158	GNPTAB	HP:0000484	Hyperopic astigmatism	-	OMIM:252600
79158	GNPTAB	HP:0000485	Megalocornea	-	OMIM:252500
79158	GNPTAB	HP:0012471	Thick vermilion border	1/1	OMIM:252600
79158	GNPTAB	HP:0000488	Retinopathy	-	OMIM:252600
79158	GNPTAB	HP:0000463	Anteverted nares	-	OMIM:252500
79158	GNPTAB	HP:0000470	Short neck	HP:0040282	ORPHA:423461
79158	GNPTAB	HP:0000470	Short neck	1/7	OMIM:615777
79158	GNPTAB	HP:0001769	Broad foot	HP:0040283	OMIM:615777
79158	GNPTAB	HP:0001763	Pes planus	1/7	OMIM:615777
79158	GNPTAB	HP:0001744	Splenomegaly	-	OMIM:252500
79158	GNPTAB	HP:0001744	Splenomegaly	0/1	OMIM:252600
79158	GNPTAB	HP:0001744	Splenomegaly	HP:0040284	ORPHA:576
79158	GNPTAB	HP:0001762	Talipes equinovarus	-	OMIM:252500
79158	GNPTAB	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0005487	Prominent metopic ridge	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0001840	Metatarsus adductus	-	OMIM:615777
79158	GNPTAB	HP:0000520	Proptosis	2/4	OMIM:131300
79158	GNPTAB	HP:0000520	Proptosis	1/1	OMIM:252600
79158	GNPTAB	HP:0000520	Proptosis	HP:0040284	ORPHA:423461
79158	GNPTAB	HP:0000520	Proptosis	7/7	OMIM:615777
79158	GNPTAB	HP:0001824	Weight loss	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0000592	Blue sclerae	2/7	OMIM:615777
79158	GNPTAB	HP:0000586	Shallow orbits	HP:0040283	ORPHA:576
79158	GNPTAB	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
79158	GNPTAB	HP:0012514	Lower limb pain	4/4	OMIM:131300
79158	GNPTAB	HP:0000546	Retinal degeneration	-	OMIM:252600
79184	BRCC3	HP:0001263	Global developmental delay	HP:0040283	ORPHA:280679
79184	BRCC3	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:280679
79184	BRCC3	HP:0000027	Azoospermia	HP:0040282	ORPHA:280679
79184	BRCC3	HP:0001324	Muscle weakness	HP:0040283	ORPHA:280679
79184	BRCC3	HP:0001342	Cerebral hemorrhage	HP:0040282	ORPHA:280679
79184	BRCC3	HP:0002140	Ischemic stroke	HP:0040282	ORPHA:280679
79184	BRCC3	HP:0011834	Moyamoya phenomenon	HP:0040281	ORPHA:280679
79184	BRCC3	HP:0002216	Premature graying of hair	HP:0040282	ORPHA:280679
79184	BRCC3	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:280679
79184	BRCC3	HP:0004322	Short stature	HP:0040282	ORPHA:280679
79184	BRCC3	HP:0004302	Functional motor deficit	HP:0040282	ORPHA:280679
79184	BRCC3	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:280679
79184	BRCC3	HP:0000815	Hypergonadotropic hypogonadism	HP:0040282	ORPHA:280679
79184	BRCC3	HP:0000822	Hypertension	HP:0040282	ORPHA:280679
79184	BRCC3	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:280679
79184	BRCC3	HP:0000823	Delayed puberty	HP:0040282	ORPHA:280679
79184	BRCC3	HP:0000278	Retrognathia	HP:0040282	ORPHA:280679
79184	BRCC3	HP:0000369	Low-set ears	HP:0040283	ORPHA:280679
79184	BRCC3	HP:0000343	Long philtrum	HP:0040282	ORPHA:280679
79184	BRCC3	HP:0001677	Coronary artery atherosclerosis	HP:0040283	ORPHA:280679
79184	BRCC3	HP:0000316	Hypertelorism	HP:0040282	ORPHA:280679
79184	BRCC3	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:280679
79184	BRCC3	HP:0007970	Congenital ptosis	HP:0040282	ORPHA:280679
79184	BRCC3	HP:0000490	Deeply set eye	HP:0040283	ORPHA:280679
79184	BRCC3	HP:0000454	Flared nostrils	HP:0040283	ORPHA:280679
79184	BRCC3	HP:0000445	Wide nose	HP:0040283	ORPHA:280679
79184	BRCC3	HP:0000518	Cataract	HP:0040282	ORPHA:280679
79188	TMEM43	HP:0002486	Myotonia	HP:0040281	ORPHA:98853
79188	TMEM43	HP:0003701	Proximal muscle weakness	2/2	OMIM:614302
79188	TMEM43	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0001252	Hypotonia	HP:0040283	ORPHA:98853
79188	TMEM43	HP:0001249	Intellectual disability	-	ORPHA:98853
79188	TMEM43	HP:0002515	Waddling gait	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0003805	Rimmed vacuoles	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0001387	Joint stiffness	HP:0040281	ORPHA:98853
79188	TMEM43	HP:0000006	Autosomal dominant inheritance	-	OMIM:604400
79188	TMEM43	HP:0000006	Autosomal dominant inheritance	-	OMIM:614302
79188	TMEM43	HP:0000006	Autosomal dominant inheritance	-	OMIM:619832
79188	TMEM43	HP:0002650	Scoliosis	HP:0040283	ORPHA:98853
79188	TMEM43	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:98853
79188	TMEM43	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0008948	Proximal upper limb amyotrophy	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0008956	Proximal lower limb amyotrophy	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040284	ORPHA:98853
79188	TMEM43	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:98853
79188	TMEM43	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0011807	Type 1 muscle fiber atrophy	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0004756	Ventricular tachycardia	-	OMIM:604400
79188	TMEM43	HP:0003418	Back pain	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0003584	Late onset	-	OMIM:619832
79188	TMEM43	HP:0003581	Adult onset	2/2	OMIM:614302
79188	TMEM43	HP:0003560	Muscular dystrophy	-	OMIM:614302
79188	TMEM43	HP:0003557	Increased variability in muscle fiber diameter	1/2	OMIM:614302
79188	TMEM43	HP:0100749	Chest pain	-	OMIM:604400
79188	TMEM43	HP:0003691	Scapular winging	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0003677	Slowly progressive	-	OMIM:614302
79188	TMEM43	HP:0100660	Dyskinesia	-	OMIM:604400
79188	TMEM43	HP:0007126	Proximal amyotrophy	2/2	OMIM:614302
79188	TMEM43	HP:0001962	Palpitations	-	OMIM:604400
79188	TMEM43	HP:0001963	Abnormal speech discrimination	-	OMIM:619832
79188	TMEM43	HP:0031972	Presyncope	-	OMIM:604400
79188	TMEM43	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:98853
79188	TMEM43	HP:0011462	Young adult onset	-	OMIM:604400
79188	TMEM43	HP:0009125	Lipodystrophy	HP:0040283	ORPHA:98853
79188	TMEM43	HP:0003198	Myopathy	HP:0040281	ORPHA:98853
79188	TMEM43	HP:0000912	Sprengel anomaly	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0003141	Increased LDL cholesterol concentration	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:98853
79188	TMEM43	HP:0003202	Skeletal muscle atrophy	1/2	OMIM:614302
79188	TMEM43	HP:0008064	Ichthyosis	HP:0040283	ORPHA:98853
79188	TMEM43	HP:0011663	Right ventricular cardiomyopathy	-	OMIM:604400
79188	TMEM43	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:98853
79188	TMEM43	HP:0005110	Atrial fibrillation	1/2	OMIM:614302
79188	TMEM43	HP:0002808	Kyphosis	HP:0040283	ORPHA:98853
79188	TMEM43	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0001513	Obesity	HP:0040283	ORPHA:98853
79188	TMEM43	HP:0001605	Vocal cord paralysis	HP:0040284	ORPHA:98853
79188	TMEM43	HP:0005155	Ventricular escape rhythm	HP:0040284	ORPHA:98853
79188	TMEM43	HP:0000365	Hearing impairment	-	OMIM:619832
79188	TMEM43	HP:0030117	Absent muscle fiber emerin	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0001678	Atrioventricular block	HP:0040283	ORPHA:98853
79188	TMEM43	HP:0001645	Sudden cardiac death	-	OMIM:604400
79188	TMEM43	HP:0001645	Sudden cardiac death	HP:0040284	ORPHA:98853
79188	TMEM43	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:98853
79188	TMEM43	HP:0001662	Bradycardia	-	OMIM:614302
79188	TMEM43	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:98853
79188	TMEM43	HP:0001635	Congestive heart failure	-	OMIM:604400
79188	TMEM43	HP:0006682	Premature ventricular contraction	-	OMIM:604400
79188	TMEM43	HP:0006677	Prolonged QRS complex	-	OMIM:604400
79188	TMEM43	HP:0000467	Neck muscle weakness	2/2	OMIM:614302
79188	TMEM43	HP:0001771	Achilles tendon contracture	HP:0040282	ORPHA:98853
79188	TMEM43	HP:0006785	Limb-girdle muscular dystrophy	HP:0040281	ORPHA:98853
79188	TMEM43	HP:0000508	Ptosis	HP:0040283	ORPHA:98853
79191	IRX3	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
79191	IRX3	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
79191	IRX3	HP:0001664	Torsade de pointes	1/46	OMIM:115000
79191	IRX3	HP:0001645	Sudden cardiac death	-	OMIM:115000
79191	IRX3	HP:0001663	Ventricular fibrillation	-	OMIM:115000
79191	IRX3	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
79191	IRX3	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
79228	THOC6	HP:0009890	High anterior hairline	HP:0040283	ORPHA:363444
79228	THOC6	HP:0009890	High anterior hairline	4/4	OMIM:613680
79228	THOC6	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:363444
79228	THOC6	HP:0001249	Intellectual disability	4/4	OMIM:613680
79228	THOC6	HP:0001263	Global developmental delay	HP:0040282	ORPHA:363444
79228	THOC6	HP:0001263	Global developmental delay	4/4	OMIM:613680
79228	THOC6	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:363444
79228	THOC6	HP:0000085	Horseshoe kidney	1/4	OMIM:613680
79228	THOC6	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:363444
79228	THOC6	HP:0000054	Micropenis	HP:0040283	ORPHA:363444
79228	THOC6	HP:0000047	Hypospadias	HP:0040283	ORPHA:363444
79228	THOC6	HP:0001328	Specific learning disability	HP:0040283	ORPHA:363444
79228	THOC6	HP:0000010	Recurrent urinary tract infections	HP:0040282	ORPHA:363444
79228	THOC6	HP:0000010	Recurrent urinary tract infections	2/4	OMIM:613680
79228	THOC6	HP:0000007	Autosomal recessive inheritance	-	OMIM:613680
79228	THOC6	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:363444
79228	THOC6	HP:0000122	Unilateral renal agenesis	HP:0040283	ORPHA:363444
79228	THOC6	HP:0000122	Unilateral renal agenesis	1/4	OMIM:613680
79228	THOC6	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:363444
79228	THOC6	HP:0002023	Anal atresia	HP:0040283	ORPHA:363444
79228	THOC6	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:363444
79228	THOC6	HP:0008209	Premature ovarian insufficiency	HP:0040283	ORPHA:363444
79228	THOC6	HP:0008209	Premature ovarian insufficiency	1/4	OMIM:613680
79228	THOC6	HP:0003593	Infantile onset	2/4	OMIM:613680
79228	THOC6	HP:0003577	Congenital onset	2/4	OMIM:613680
79228	THOC6	HP:0009765	Low hanging columella	HP:0040281	ORPHA:363444
79228	THOC6	HP:0009765	Low hanging columella	4/4	OMIM:613680
79228	THOC6	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:363444
79228	THOC6	HP:0000689	Dental malocclusion	2/4	OMIM:613680
79228	THOC6	HP:0000670	Carious teeth	HP:0040282	ORPHA:363444
79228	THOC6	HP:0000670	Carious teeth	4/4	OMIM:613680
79228	THOC6	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:363444
79228	THOC6	HP:0006989	Dysplastic corpus callosum	HP:0040282	ORPHA:363444
79228	THOC6	HP:0012745	Short palpebral fissure	4/4	OMIM:613680
79228	THOC6	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:363444
79228	THOC6	HP:0003189	Long nose	HP:0040281	ORPHA:363444
79228	THOC6	HP:0003189	Long nose	4/4	OMIM:613680
79228	THOC6	HP:0010282	Thin lower lip vermilion	HP:0040283	ORPHA:363444
79228	THOC6	HP:0011623	Muscular ventricular septal defect	HP:0040283	ORPHA:363444
79228	THOC6	HP:0040196	Mild microcephaly	HP:0040281	ORPHA:363444
79228	THOC6	HP:0011682	Perimembranous ventricular septal defect	HP:0040283	ORPHA:363444
79228	THOC6	HP:0000286	Epicanthus	HP:0040282	ORPHA:363444
79228	THOC6	HP:0000278	Retrognathia	HP:0040282	ORPHA:363444
79228	THOC6	HP:0000252	Microcephaly	4/4	OMIM:613680
79228	THOC6	HP:0000220	Velopharyngeal insufficiency	HP:0040283	ORPHA:363444
79228	THOC6	HP:0000220	Velopharyngeal insufficiency	1/4	OMIM:613680
79228	THOC6	HP:0000215	Thick upper lip vermilion	HP:0040283	ORPHA:363444
79228	THOC6	HP:0012385	Camptodactyly	HP:0040283	ORPHA:363444
79228	THOC6	HP:0012382	Left-to-right shunt	HP:0040283	ORPHA:363444
79228	THOC6	HP:0000365	Hearing impairment	HP:0040283	ORPHA:363444
79228	THOC6	HP:0000337	Broad forehead	HP:0040283	ORPHA:363444
79228	THOC6	HP:0030127	Endometriosis	HP:0040283	ORPHA:363444
79228	THOC6	HP:0030127	Endometriosis	1/4	OMIM:613680
79228	THOC6	HP:0000348	High forehead	HP:0040281	ORPHA:363444
79228	THOC6	HP:0000348	High forehead	4/4	OMIM:613680
79228	THOC6	HP:0000347	Micrognathia	1/4	OMIM:613680
79228	THOC6	HP:0000319	Smooth philtrum	HP:0040282	ORPHA:363444
79228	THOC6	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:363444
79228	THOC6	HP:0001643	Patent ductus arteriosus	1/4	OMIM:613680
79228	THOC6	HP:0001629	Ventricular septal defect	2/4	OMIM:613680
79228	THOC6	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:363444
79228	THOC6	HP:0000307	Pointed chin	HP:0040283	ORPHA:363444
79228	THOC6	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:363444
79228	THOC6	HP:0000490	Deeply set eye	HP:0040281	ORPHA:363444
79228	THOC6	HP:0000490	Deeply set eye	4/4	OMIM:613680
79228	THOC6	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:363444
79228	THOC6	HP:0001845	Overlapping toe	HP:0040283	ORPHA:363444
79228	THOC6	HP:0000582	Upslanted palpebral fissure	4/4	OMIM:613680
79228	THOC6	HP:0000545	Myopia	2/4	OMIM:613680
79258	MMEL1	HP:0002480	Hepatic encephalopathy	HP:0040283	ORPHA:186
79258	MMEL1	HP:0001114	Xanthelasma	HP:0040282	ORPHA:186
79258	MMEL1	HP:0001278	Orthostatic hypotension	HP:0040282	ORPHA:186
79258	MMEL1	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:186
79258	MMEL1	HP:0002570	Steatorrhea	HP:0040283	ORPHA:186
79258	MMEL1	HP:0001399	Hepatic failure	HP:0040282	ORPHA:186
79258	MMEL1	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:186
79258	MMEL1	HP:0001394	Cirrhosis	HP:0040281	ORPHA:186
79258	MMEL1	HP:0002613	Biliary cirrhosis	HP:0040281	ORPHA:186
79258	MMEL1	HP:0002608	Celiac disease	HP:0040283	ORPHA:186
79258	MMEL1	HP:0012115	Hepatitis	HP:0040283	ORPHA:186
79258	MMEL1	HP:0001409	Portal hypertension	HP:0040282	ORPHA:186
79258	MMEL1	HP:0001402	Hepatocellular carcinoma	HP:0040282	ORPHA:186
79258	MMEL1	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040282	ORPHA:186
79258	MMEL1	HP:0002040	Esophageal varix	HP:0040283	ORPHA:186
79258	MMEL1	HP:0003496	Increased circulating IgM level	HP:0040282	ORPHA:186
79258	MMEL1	HP:0003493	Antinuclear antibody positivity	HP:0040282	ORPHA:186
79258	MMEL1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:186
79258	MMEL1	HP:0011971	Dermatographic urticaria	HP:0040281	ORPHA:186
79258	MMEL1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:186
79258	MMEL1	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:186
79258	MMEL1	HP:0004386	Gastrointestinal inflammation	HP:0040284	ORPHA:186
79258	MMEL1	HP:0003124	Hypercholesterolemia	HP:0040282	ORPHA:186
79258	MMEL1	HP:0003119	Abnormal circulating lipid concentration	HP:0040282	ORPHA:186
79258	MMEL1	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:186
79258	MMEL1	HP:0000820	Abnormality of the thyroid gland	HP:0040282	ORPHA:186
79258	MMEL1	HP:0003270	Abdominal distention	HP:0040283	ORPHA:186
79258	MMEL1	HP:0003261	Increased circulating IgA concentration	HP:0040283	ORPHA:186
79258	MMEL1	HP:0000989	Pruritus	HP:0040282	ORPHA:186
79258	MMEL1	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:186
79258	MMEL1	HP:0000952	Jaundice	HP:0040282	ORPHA:186
79258	MMEL1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:186
79258	MMEL1	HP:0012203	Onychomycosis	HP:0040282	ORPHA:186
79258	MMEL1	HP:0001541	Ascites	HP:0040283	ORPHA:186
79258	MMEL1	HP:0002841	Recurrent fungal infections	HP:0040282	ORPHA:186
79258	MMEL1	HP:0012378	Fatigue	HP:0040283	ORPHA:186
79258	MMEL1	HP:0011040	Abnormal intrahepatic bile duct morphology	HP:0040282	ORPHA:186
79258	MMEL1	HP:0002908	Conjugated hyperbilirubinemia	HP:0040281	ORPHA:186
79258	MMEL1	HP:0002960	Autoimmunity	HP:0040282	ORPHA:186
79258	MMEL1	HP:0030167	Antimitochondrial antibody positivity	HP:0040281	ORPHA:186
79258	MMEL1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:186
79415	CYBC1	HP:0032252	Granuloma	1/1	OMIM:618935
79415	CYBC1	HP:0100806	Sepsis	HP:0040283	ORPHA:379
79415	CYBC1	HP:0001287	Meningitis	HP:0040283	ORPHA:379
79415	CYBC1	HP:0002575	Tracheoesophageal fistula	HP:0040281	ORPHA:379
79415	CYBC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618935
79415	CYBC1	HP:0000155	Oral ulcer	1/8	OMIM:618935
79415	CYBC1	HP:0000100	Nephrotic syndrome	1/8	OMIM:618935
79415	CYBC1	HP:0001433	Hepatosplenomegaly	1/8	OMIM:618935
79415	CYBC1	HP:0002719	Recurrent infections	-	OMIM:618935
79415	CYBC1	HP:0002716	Lymphadenopathy	1/1	OMIM:618935
79415	CYBC1	HP:0002024	Malabsorption	HP:0040281	ORPHA:379
79415	CYBC1	HP:0002021	Pyloric stenosis	HP:0040281	ORPHA:379
79415	CYBC1	HP:0100523	Liver abscess	HP:0040283	ORPHA:379
79415	CYBC1	HP:0100533	Inflammatory abnormality of the eye	HP:0040283	ORPHA:379
79415	CYBC1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:379
79415	CYBC1	HP:0002202	Pleural effusion	1/1	OMIM:618935
79415	CYBC1	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:379
79415	CYBC1	HP:0002206	Pulmonary fibrosis	1/8	OMIM:618935
79415	CYBC1	HP:0100721	Mediastinal lymphadenopathy	HP:0040281	ORPHA:379
79415	CYBC1	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:379
79415	CYBC1	HP:0200042	Skin ulcer	HP:0040283	ORPHA:379
79415	CYBC1	HP:0009789	Perianal abscess	2/8	OMIM:618935
79415	CYBC1	HP:0001945	Fever	HP:0040281	ORPHA:379
79415	CYBC1	HP:0001945	Fever	1/1	OMIM:618935
79415	CYBC1	HP:0004322	Short stature	1/1	OMIM:618935
79415	CYBC1	HP:0012733	Macule	HP:0040281	ORPHA:379
79415	CYBC1	HP:0003203	Decreased neutrophil oxidative burst	3/3	OMIM:618935
79415	CYBC1	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:379
79415	CYBC1	HP:0100280	Crohn's disease	4/8	OMIM:618935
79415	CYBC1	HP:0100279	Ulcerative colitis	1/8	OMIM:618935
79415	CYBC1	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:379
79415	CYBC1	HP:0000964	Eczematoid dermatitis	1/8	OMIM:618935
79415	CYBC1	HP:0000246	Sinusitis	HP:0040281	ORPHA:379
79415	CYBC1	HP:0012203	Onychomycosis	1/8	OMIM:618935
79415	CYBC1	HP:0000230	Gingivitis	HP:0040283	ORPHA:379
79415	CYBC1	HP:0002840	Lymphadenitis	1/8	OMIM:618935
79415	CYBC1	HP:0006510	Chronic pulmonary obstruction	HP:0040281	ORPHA:379
79415	CYBC1	HP:0012390	Anal fissure	2/8	OMIM:618935
79415	CYBC1	HP:0000388	Otitis media	HP:0040281	ORPHA:379
79415	CYBC1	HP:0006532	Recurrent pneumonia	1/1	OMIM:618935
79415	CYBC1	HP:0002923	Rheumatoid factor positive	1/8	OMIM:618935
79415	CYBC1	HP:0025615	Abscess	1/1	OMIM:618935
79415	CYBC1	HP:0001735	Acute pancreatitis	2/8	OMIM:618935
79415	CYBC1	HP:0011110	Recurrent tonsillitis	1/1	OMIM:618935
79415	CYBC1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:379
79415	CYBC1	HP:0001744	Splenomegaly	1/1	OMIM:618935
79415	CYBC1	HP:0001888	Decreased total lymphocyte count	1/1	OMIM:618935
79415	CYBC1	HP:0001878	Hemolytic anemia	1/1	OMIM:618935
79415	CYBC1	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:379
79443	FYCO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:610019
79443	FYCO1	HP:0003593	Infantile onset	-	OMIM:610019
79443	FYCO1	HP:0003577	Congenital onset	-	OMIM:610019
79443	FYCO1	HP:0100018	Nuclear cataract	-	OMIM:610019
79572	ATP13A3	HP:0001279	Syncope	-	OMIM:265400
79572	ATP13A3	HP:0001324	Muscle weakness	-	OMIM:265400
79572	ATP13A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:265400
79572	ATP13A3	HP:0002092	Pulmonary arterial hypertension	5/5	OMIM:265400
79572	ATP13A3	HP:0003388	Easy fatigability	-	OMIM:265400
79572	ATP13A3	HP:0003593	Infantile onset	1/5	OMIM:265400
79572	ATP13A3	HP:0003623	Neonatal onset	1/5	OMIM:265400
79572	ATP13A3	HP:0011463	Childhood onset	3/5	OMIM:265400
79572	ATP13A3	HP:0002875	Exertional dyspnea	-	OMIM:265400
79572	ATP13A3	HP:0012378	Fatigue	-	OMIM:265400
79572	ATP13A3	HP:0001667	Right ventricular hypertrophy	-	OMIM:265400
79572	ATP13A3	HP:0001681	Angina pectoris	-	OMIM:265400
79572	ATP13A3	HP:0001708	Right ventricular failure	3/5	OMIM:265400
79574	EPS8L3	HP:0002555	Absent pubic hair	-	OMIM:612841
79574	EPS8L3	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:444
79574	EPS8L3	HP:0000006	Autosomal dominant inheritance	-	OMIM:612841
79574	EPS8L3	HP:0000164	Abnormality of the dentition	0/9	OMIM:612841
79574	EPS8L3	HP:0003577	Congenital onset	1/1	OMIM:612841
79574	EPS8L3	HP:0002221	Absent axillary hair	-	OMIM:612841
79574	EPS8L3	HP:0200102	Sparse or absent eyelashes	HP:0040281	ORPHA:444
79574	EPS8L3	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:444
79574	EPS8L3	HP:0002208	Coarse hair	HP:0040281	ORPHA:444
79574	EPS8L3	HP:0000653	Sparse eyelashes	-	OMIM:612841
79574	EPS8L3	HP:0045074	Thin eyebrow	-	OMIM:612841
79574	EPS8L3	HP:0000971	Abnormal sweat gland morphology	0/9	OMIM:612841
79574	EPS8L3	HP:0001597	Abnormal nail morphology	0/9	OMIM:612841
79574	EPS8L3	HP:0001596	Alopecia	HP:0040281	ORPHA:444
79574	EPS8L3	HP:0001596	Alopecia	-	OMIM:612841
79574	EPS8L3	HP:0000364	Hearing abnormality	0/9	OMIM:612841
79576	NKAP	HP:0001166	Arachnodactyly	8/10	OMIM:301039
79576	NKAP	HP:0001252	Hypotonia	10/10	OMIM:301039
79576	NKAP	HP:0001263	Global developmental delay	10/10	OMIM:301039
79576	NKAP	HP:0001382	Joint hypermobility	9/10	OMIM:301039
79576	NKAP	HP:0000028	Cryptorchidism	4/10	OMIM:301039
79576	NKAP	HP:0002650	Scoliosis	6/10	OMIM:301039
79576	NKAP	HP:0002616	Aortic root aneurysm	1/10	OMIM:301039
79576	NKAP	HP:0000194	Open mouth	7/10	OMIM:301039
79576	NKAP	HP:0001419	X-linked recessive inheritance	-	OMIM:301039
79576	NKAP	HP:0011800	Midface retrusion	7/10	OMIM:301039
79576	NKAP	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:301039
79576	NKAP	HP:0012743	Abdominal obesity	5/10	OMIM:301039
79576	NKAP	HP:0000767	Pectus excavatum	1/10	OMIM:301039
79576	NKAP	HP:0000768	Pectus carinatum	3/10	OMIM:301039
79576	NKAP	HP:0000718	Aggressive behavior	-	OMIM:301039
79576	NKAP	HP:0000276	Long face	8/10	OMIM:301039
79576	NKAP	HP:0001519	Disproportionate tall stature	10/10	OMIM:301039
79576	NKAP	HP:0012385	Camptodactyly	4/10	OMIM:301039
79576	NKAP	HP:0000322	Short philtrum	7/10	OMIM:301039
79576	NKAP	HP:0001653	Mitral regurgitation	3/10	OMIM:301039
79576	NKAP	HP:0001629	Ventricular septal defect	1/10	OMIM:301039
79576	NKAP	HP:0001631	Atrial septal defect	1/10	OMIM:301039
79576	NKAP	HP:0000411	Protruding ear	8/10	OMIM:301039
79576	NKAP	HP:0001762	Talipes equinovarus	1/10	OMIM:301039
79577	CDC73	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
79577	CDC73	HP:0001293	Cranial nerve compression	-	OMIM:131300
79577	CDC73	HP:0001252	Hypotonia	2/7	OMIM:615777
79577	CDC73	HP:0001249	Intellectual disability	5/7	OMIM:615777
79577	CDC73	HP:0001263	Global developmental delay	-	OMIM:615777
79577	CDC73	HP:0002574	Episodic abdominal pain	HP:0040283	ORPHA:99880
79577	CDC73	HP:0002574	Episodic abdominal pain	HP:0040283	ORPHA:143
79577	CDC73	HP:0008696	Renal hamartoma	HP:0040283	ORPHA:143
79577	CDC73	HP:0008696	Renal hamartoma	HP:0040283	ORPHA:99880
79577	CDC73	HP:0002515	Waddling gait	54/102	OMIM:131300
79577	CDC73	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:143
79577	CDC73	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:99880
79577	CDC73	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:99879
79577	CDC73	HP:0012032	Lipoma	HP:0040284	ORPHA:143
79577	CDC73	HP:0012032	Lipoma	HP:0040284	ORPHA:99880
79577	CDC73	HP:0001382	Joint hypermobility	-	OMIM:615777
79577	CDC73	HP:0002694	Sclerosis of skull base	-	OMIM:131300
79577	CDC73	HP:0008897	Postnatal growth retardation	-	OMIM:615777
79577	CDC73	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
79577	CDC73	HP:0001324	Muscle weakness	HP:0040283	ORPHA:143
79577	CDC73	HP:0001324	Muscle weakness	HP:0040283	ORPHA:99880
79577	CDC73	HP:0001324	Muscle weakness	40/96	OMIM:131300
79577	CDC73	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
79577	CDC73	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
79577	CDC73	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:143
79577	CDC73	HP:0002667	Nephroblastoma	-	OMIM:145001
79577	CDC73	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:99880
79577	CDC73	HP:0000006	Autosomal dominant inheritance	-	OMIM:145000
79577	CDC73	HP:0000006	Autosomal dominant inheritance	-	OMIM:145001
79577	CDC73	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
79577	CDC73	HP:0000006	Autosomal dominant inheritance	-	OMIM:608266
79577	CDC73	HP:0002653	Bone pain	HP:0040283	ORPHA:143
79577	CDC73	HP:0002653	Bone pain	HP:0040283	ORPHA:99880
79577	CDC73	HP:0002650	Scoliosis	12/14	OMIM:131300
79577	CDC73	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
79577	CDC73	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
79577	CDC73	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
79577	CDC73	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
79577	CDC73	HP:0000175	Cleft palate	2/7	OMIM:615777
79577	CDC73	HP:0000121	Nephrocalcinosis	HP:0040282	ORPHA:143
79577	CDC73	HP:0000121	Nephrocalcinosis	HP:0040282	ORPHA:99880
79577	CDC73	HP:0000121	Nephrocalcinosis	HP:0040281	ORPHA:99879
79577	CDC73	HP:0000113	Polycystic kidney dysplasia	-	OMIM:145001
79577	CDC73	HP:0000131	Uterine leiomyoma	HP:0040282	ORPHA:143
79577	CDC73	HP:0000131	Uterine leiomyoma	HP:0040282	ORPHA:99880
79577	CDC73	HP:0001442	Typified by somatic mosaicism	-	OMIM:608266
79577	CDC73	HP:0000107	Renal cyst	HP:0040283	ORPHA:143
79577	CDC73	HP:0000107	Renal cyst	HP:0040283	ORPHA:99880
79577	CDC73	HP:0002019	Constipation	HP:0040283	ORPHA:143
79577	CDC73	HP:0002019	Constipation	HP:0040283	ORPHA:99880
79577	CDC73	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:143
79577	CDC73	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:99880
79577	CDC73	HP:0002015	Dysphagia	HP:0040282	ORPHA:143
79577	CDC73	HP:0002015	Dysphagia	HP:0040282	ORPHA:99880
79577	CDC73	HP:0003388	Easy fatigability	36/76	OMIM:131300
79577	CDC73	HP:0011766	Abnormal parathyroid morphology	HP:0040281	ORPHA:143
79577	CDC73	HP:0011766	Abnormal parathyroid morphology	HP:0040281	ORPHA:99880
79577	CDC73	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
79577	CDC73	HP:0002150	Hypercalciuria	HP:0040281	ORPHA:143
79577	CDC73	HP:0002150	Hypercalciuria	HP:0040281	ORPHA:99880
79577	CDC73	HP:0002150	Hypercalciuria	HP:0040281	ORPHA:99879
79577	CDC73	HP:0002148	Hypophosphatemia	HP:0040281	ORPHA:143
79577	CDC73	HP:0002148	Hypophosphatemia	HP:0040281	ORPHA:99880
79577	CDC73	HP:0002148	Hypophosphatemia	HP:0040281	ORPHA:99879
79577	CDC73	HP:0010566	Hamartoma	-	OMIM:145001
79577	CDC73	HP:0008200	Primary hyperparathyroidism	HP:0040280	ORPHA:143
79577	CDC73	HP:0008200	Primary hyperparathyroidism	HP:0040280	ORPHA:99880
79577	CDC73	HP:0008200	Primary hyperparathyroidism	-	OMIM:145000
79577	CDC73	HP:0008200	Primary hyperparathyroidism	HP:0040281	ORPHA:99879
79577	CDC73	HP:0010614	Fibroma	HP:0040282	ORPHA:143
79577	CDC73	HP:0010614	Fibroma	HP:0040282	ORPHA:99880
79577	CDC73	HP:0003510	Severe short stature	7/7	OMIM:615777
79577	CDC73	HP:0002315	Headache	HP:0040283	ORPHA:143
79577	CDC73	HP:0002315	Headache	-	OMIM:131300
79577	CDC73	HP:0002315	Headache	HP:0040283	ORPHA:99880
79577	CDC73	HP:0004976	Knee dislocation	6/7	OMIM:615777
79577	CDC73	HP:0200025	Mandibular pain	HP:0040283	ORPHA:143
79577	CDC73	HP:0200025	Mandibular pain	HP:0040283	ORPHA:99880
79577	CDC73	HP:0009803	Short phalanx of finger	-	OMIM:615777
79577	CDC73	HP:0010788	Testicular neoplasm	HP:0040284	ORPHA:143
79577	CDC73	HP:0010788	Testicular neoplasm	HP:0040284	ORPHA:99880
79577	CDC73	HP:0009763	Limb pain	63/92	OMIM:131300
79577	CDC73	HP:0003621	Juvenile onset	-	OMIM:131300
79577	CDC73	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
79577	CDC73	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
79577	CDC73	HP:6001056	Out-toeing	-	OMIM:131300
79577	CDC73	HP:0000651	Diplopia	-	OMIM:131300
79577	CDC73	HP:0001959	Polydipsia	HP:0040282	ORPHA:143
79577	CDC73	HP:0001959	Polydipsia	HP:0040282	ORPHA:99880
79577	CDC73	HP:0001956	Truncal obesity	2/7	OMIM:615777
79577	CDC73	HP:0001903	Anemia	HP:0040283	OMIM:131300
79577	CDC73	HP:0010049	Short metacarpal	-	OMIM:615777
79577	CDC73	HP:0000678	Dental crowding	-	OMIM:615777
79577	CDC73	HP:0000670	Carious teeth	-	OMIM:131300
79577	CDC73	HP:0011304	Broad thumb	2/7	OMIM:615777
79577	CDC73	HP:0000668	Hypodontia	-	OMIM:615777
79577	CDC73	HP:0000664	Synophrys	-	OMIM:615777
79577	CDC73	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:143
79577	CDC73	HP:0003072	Hypercalcemia	-	OMIM:145000
79577	CDC73	HP:0003072	Hypercalcemia	-	OMIM:145001
79577	CDC73	HP:0003072	Hypercalcemia	HP:0040282	ORPHA:99880
79577	CDC73	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:99879
79577	CDC73	HP:0003072	Hypercalcemia	-	OMIM:608266
79577	CDC73	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:143
79577	CDC73	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:99880
79577	CDC73	HP:0004396	Poor appetite	-	OMIM:131300
79577	CDC73	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
79577	CDC73	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
79577	CDC73	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
79577	CDC73	HP:0003026	Short long bone	7/7	OMIM:615777
79577	CDC73	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
79577	CDC73	HP:0000767	Pectus excavatum	2/7	OMIM:615777
79577	CDC73	HP:0000768	Pectus carinatum	1/7	OMIM:615777
79577	CDC73	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
79577	CDC73	HP:0100027	Recurrent pancreatitis	-	OMIM:145001
79577	CDC73	HP:0000750	Delayed speech and language development	-	OMIM:615777
79577	CDC73	HP:0011458	Abdominal symptom	HP:0040283	ORPHA:99879
79577	CDC73	HP:0011461	Fetal onset	7/7	OMIM:615777
79577	CDC73	HP:0000774	Narrow chest	2/7	OMIM:615777
79577	CDC73	HP:0000787	Nephrolithiasis	HP:0040282	ORPHA:143
79577	CDC73	HP:0000787	Nephrolithiasis	-	OMIM:145001
79577	CDC73	HP:0000787	Nephrolithiasis	HP:0040282	ORPHA:99880
79577	CDC73	HP:0003109	Hyperphosphaturia	HP:0040281	ORPHA:99879
79577	CDC73	HP:0000926	Platyspondyly	1/7	OMIM:615777
79577	CDC73	HP:0003180	Flat acetabular roof	-	OMIM:615777
79577	CDC73	HP:0004482	Relative macrocephaly	-	OMIM:615777
79577	CDC73	HP:0003165	Elevated circulating parathyroid hormone level	HP:0040281	ORPHA:99880
79577	CDC73	HP:0003165	Elevated circulating parathyroid hormone level	HP:0040281	ORPHA:99879
79577	CDC73	HP:0003165	Elevated circulating parathyroid hormone level	HP:0040281	ORPHA:143
79577	CDC73	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
79577	CDC73	HP:0000843	Hyperparathyroidism	-	OMIM:145001
79577	CDC73	HP:0000843	Hyperparathyroidism	-	OMIM:608266
79577	CDC73	HP:0000823	Delayed puberty	-	OMIM:131300
79577	CDC73	HP:0000894	Short clavicles	-	OMIM:615777
79577	CDC73	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
79577	CDC73	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
79577	CDC73	HP:0000939	Osteoporosis	HP:0040282	ORPHA:143
79577	CDC73	HP:0000939	Osteoporosis	HP:0040282	ORPHA:99880
79577	CDC73	HP:0000938	Osteopenia	HP:0040281	ORPHA:99879
79577	CDC73	HP:0000934	Chondrocalcinosis	HP:0040283	ORPHA:143
79577	CDC73	HP:0000934	Chondrocalcinosis	HP:0040283	ORPHA:99880
79577	CDC73	HP:0000934	Chondrocalcinosis	HP:0040281	ORPHA:99879
79577	CDC73	HP:0040160	Generalized osteoporosis	HP:0040281	ORPHA:99879
79577	CDC73	HP:0000286	Epicanthus	1/7	OMIM:615777
79577	CDC73	HP:0000280	Coarse facial features	2/7	OMIM:615777
79577	CDC73	HP:0002827	Hip dislocation	3/7	OMIM:615777
79577	CDC73	HP:0012232	Shortened QT interval	HP:0040282	ORPHA:143
79577	CDC73	HP:0012232	Shortened QT interval	HP:0040282	ORPHA:99880
79577	CDC73	HP:0000234	Abnormality of the head	-	OMIM:145001
79577	CDC73	HP:0002897	Parathyroid adenoma	HP:0040280	ORPHA:99880
79577	CDC73	HP:0002897	Parathyroid adenoma	-	OMIM:145001
79577	CDC73	HP:0002897	Parathyroid adenoma	HP:0040281	ORPHA:99879
79577	CDC73	HP:0000252	Microcephaly	-	OMIM:615777
79577	CDC73	HP:0002890	Thyroid carcinoma	HP:0040284	ORPHA:143
79577	CDC73	HP:0002890	Thyroid carcinoma	HP:0040284	ORPHA:99880
79577	CDC73	HP:0002857	Genu valgum	-	OMIM:131300
79577	CDC73	HP:0001533	Slender build	-	OMIM:131300
79577	CDC73	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
79577	CDC73	HP:0007807	Optic nerve compression	-	OMIM:131300
79577	CDC73	HP:0012378	Fatigue	HP:0040282	ORPHA:143
79577	CDC73	HP:0012378	Fatigue	HP:0040282	ORPHA:99880
79577	CDC73	HP:0012368	Flat face	7/7	OMIM:615777
79577	CDC73	HP:0001609	Hoarse voice	HP:0040282	ORPHA:143
79577	CDC73	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
79577	CDC73	HP:0000365	Hearing impairment	10/67	OMIM:131300
79577	CDC73	HP:0000343	Long philtrum	1/7	OMIM:615777
79577	CDC73	HP:0011001	Increased bone mineral density	-	OMIM:131300
79577	CDC73	HP:0000311	Round face	2/7	OMIM:615777
79577	CDC73	HP:0002970	Genu varum	-	OMIM:615777
79577	CDC73	HP:0000303	Mandibular prognathia	-	OMIM:131300
79577	CDC73	HP:0001733	Pancreatitis	HP:0040283	ORPHA:143
79577	CDC73	HP:0001733	Pancreatitis	HP:0040283	ORPHA:99880
79577	CDC73	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
79577	CDC73	HP:0000470	Short neck	1/7	OMIM:615777
79577	CDC73	HP:0001769	Broad foot	HP:0040283	OMIM:615777
79577	CDC73	HP:0001763	Pes planus	1/7	OMIM:615777
79577	CDC73	HP:0006735	Renal cortical adenoma	-	OMIM:145001
79577	CDC73	HP:0006725	Pancreatic adenocarcinoma	HP:0040284	ORPHA:143
79577	CDC73	HP:0006725	Pancreatic adenocarcinoma	HP:0040284	ORPHA:99880
79577	CDC73	HP:0006725	Pancreatic adenocarcinoma	-	OMIM:145001
79577	CDC73	HP:0006780	Parathyroid carcinoma	-	OMIM:145001
79577	CDC73	HP:0006780	Parathyroid carcinoma	HP:0040280	ORPHA:143
79577	CDC73	HP:0006780	Parathyroid carcinoma	-	OMIM:608266
79577	CDC73	HP:0006781	Hurthle cell thyroid adenoma	-	OMIM:145001
79577	CDC73	HP:0006766	Papillary renal cell carcinoma	-	OMIM:145001
79577	CDC73	HP:0001840	Metatarsus adductus	-	OMIM:615777
79577	CDC73	HP:0000520	Proptosis	2/4	OMIM:131300
79577	CDC73	HP:0000520	Proptosis	7/7	OMIM:615777
79577	CDC73	HP:0001824	Weight loss	HP:0040282	ORPHA:143
79577	CDC73	HP:0000592	Blue sclerae	2/7	OMIM:615777
79577	CDC73	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
79577	CDC73	HP:0012514	Lower limb pain	4/4	OMIM:131300
79581	SLC52A2	HP:0001171	Split hand	-	OMIM:614707
79581	SLC52A2	HP:0003700	Generalized amyotrophy	-	OMIM:614707
79581	SLC52A2	HP:0001290	Generalized hypotonia	-	OMIM:614707
79581	SLC52A2	HP:0001283	Bulbar palsy	-	OMIM:614707
79581	SLC52A2	HP:0001284	Areflexia	-	OMIM:614707
79581	SLC52A2	HP:0001252	Hypotonia	-	OMIM:614707
79581	SLC52A2	HP:0001251	Ataxia	-	OMIM:614707
79581	SLC52A2	HP:0003828	Variable expressivity	-	OMIM:614707
79581	SLC52A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614707
79581	SLC52A2	HP:0001308	Tongue fasciculations	-	OMIM:614707
79581	SLC52A2	HP:0002650	Scoliosis	HP:0040283	OMIM:614707
79581	SLC52A2	HP:0002751	Kyphoscoliosis	HP:0040283	OMIM:614707
79581	SLC52A2	HP:0002015	Dysphagia	HP:0040283	OMIM:614707
79581	SLC52A2	HP:0002093	Respiratory insufficiency	-	OMIM:614707
79581	SLC52A2	HP:0010628	Facial palsy	-	OMIM:614707
79581	SLC52A2	HP:0003690	Limb muscle weakness	-	OMIM:614707
79581	SLC52A2	HP:0002375	Hypokinesia	-	OMIM:614707
79581	SLC52A2	HP:0003676	Progressive	-	OMIM:614707
79581	SLC52A2	HP:0007141	Sensorimotor neuropathy	-	OMIM:614707
79581	SLC52A2	HP:0002312	Clumsiness	-	OMIM:614707
79581	SLC52A2	HP:0006824	Cranial nerve paralysis	-	OMIM:614707
79581	SLC52A2	HP:0000639	Nystagmus	HP:0040283	OMIM:614707
79581	SLC52A2	HP:0000648	Optic atrophy	HP:0040283	OMIM:614707
79581	SLC52A2	HP:0001992	Organic aciduria	HP:0040283	OMIM:614707
79581	SLC52A2	HP:0000718	Aggressive behavior	HP:0040283	OMIM:614707
79581	SLC52A2	HP:0000407	Sensorineural hearing impairment	-	OMIM:614707
79581	SLC52A2	HP:0000467	Neck muscle weakness	-	OMIM:614707
79581	SLC52A2	HP:0000572	Visual loss	HP:0040283	OMIM:614707
79583	TMEM231	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:564
79583	TMEM231	HP:0001156	Brachydactyly	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:564
79583	TMEM231	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2318
79583	TMEM231	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2754
79583	TMEM231	HP:0001159	Syndactyly	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0002444	Hypothalamic hamartoma	HP:0040283	ORPHA:2754
79583	TMEM231	HP:0002419	Molar tooth sign on MRI	HP:0040281	ORPHA:2318
79583	TMEM231	HP:0002419	Molar tooth sign on MRI	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0002419	Molar tooth sign on MRI	3/3	OMIM:614970
79583	TMEM231	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
79583	TMEM231	HP:0001293	Cranial nerve compression	-	OMIM:131300
79583	TMEM231	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0001288	Gait disturbance	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0001250	Seizure	HP:0040283	ORPHA:2318
79583	TMEM231	HP:0001250	Seizure	HP:0040283	ORPHA:2754
79583	TMEM231	HP:0001252	Hypotonia	HP:0040281	ORPHA:2318
79583	TMEM231	HP:0001252	Hypotonia	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0001252	Hypotonia	2/7	OMIM:615777
79583	TMEM231	HP:0001251	Ataxia	HP:0040281	ORPHA:2318
79583	TMEM231	HP:0001251	Ataxia	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2318
79583	TMEM231	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0001249	Intellectual disability	5/7	OMIM:615777
79583	TMEM231	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2318
79583	TMEM231	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0001263	Global developmental delay	3/3	OMIM:614970
79583	TMEM231	HP:0001263	Global developmental delay	-	OMIM:615777
79583	TMEM231	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2318
79583	TMEM231	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2754
79583	TMEM231	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:564
79583	TMEM231	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2754
79583	TMEM231	HP:0002540	Inability to walk	3/3	OMIM:614970
79583	TMEM231	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:2318
79583	TMEM231	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:2754
79583	TMEM231	HP:0002515	Waddling gait	54/102	OMIM:131300
79583	TMEM231	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:2318
79583	TMEM231	HP:0000068	Urethral atresia	HP:0040283	ORPHA:564
79583	TMEM231	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:564
79583	TMEM231	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:564
79583	TMEM231	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:564
79583	TMEM231	HP:0001382	Joint hypermobility	-	OMIM:615777
79583	TMEM231	HP:0002694	Sclerosis of skull base	-	OMIM:131300
79583	TMEM231	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:564
79583	TMEM231	HP:0008897	Postnatal growth retardation	-	OMIM:615777
79583	TMEM231	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0006145	Central Y-shaped metacarpal	HP:0040283	ORPHA:2754
79583	TMEM231	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
79583	TMEM231	HP:0001324	Muscle weakness	40/96	OMIM:131300
79583	TMEM231	HP:0001344	Absent speech	3/3	OMIM:614970
79583	TMEM231	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
79583	TMEM231	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
79583	TMEM231	HP:0000007	Autosomal recessive inheritance	-	OMIM:614970
79583	TMEM231	HP:0000007	Autosomal recessive inheritance	-	OMIM:615397
79583	TMEM231	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:564
79583	TMEM231	HP:0001337	Tremor	HP:0040283	ORPHA:2754
79583	TMEM231	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
79583	TMEM231	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:564
79583	TMEM231	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:2318
79583	TMEM231	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:2754
79583	TMEM231	HP:0002650	Scoliosis	HP:0040283	ORPHA:2318
79583	TMEM231	HP:0002650	Scoliosis	12/14	OMIM:131300
79583	TMEM231	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
79583	TMEM231	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:564
79583	TMEM231	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
79583	TMEM231	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
79583	TMEM231	HP:0000180	Lobulated tongue	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0000199	Tongue nodules	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
79583	TMEM231	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0000175	Cleft palate	HP:0040282	ORPHA:564
79583	TMEM231	HP:0000175	Cleft palate	2/7	OMIM:615777
79583	TMEM231	HP:0000175	Cleft palate	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0000113	Polycystic kidney dysplasia	1/1	OMIM:615397
79583	TMEM231	HP:0002789	Tachypnea	HP:0040281	ORPHA:2318
79583	TMEM231	HP:0000112	Nephropathy	HP:0040281	ORPHA:2318
79583	TMEM231	HP:0000107	Renal cyst	2/3	OMIM:614970
79583	TMEM231	HP:0000104	Renal agenesis	HP:0040283	ORPHA:2754
79583	TMEM231	HP:0004692	4-5 toe syndactyly	2/3	OMIM:614970
79583	TMEM231	HP:0002007	Frontal bossing	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0011802	Hamartoma of tongue	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0002085	Occipital encephalocele	1/1	OMIM:615397
79583	TMEM231	HP:0002084	Encephalocele	HP:0040283	ORPHA:2318
79583	TMEM231	HP:0002084	Encephalocele	HP:0040281	ORPHA:564
79583	TMEM231	HP:0002093	Respiratory insufficiency	3/3	OMIM:614970
79583	TMEM231	HP:0003388	Easy fatigability	36/76	OMIM:131300
79583	TMEM231	HP:0010442	Polydactyly	1/1	OMIM:615397
79583	TMEM231	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
79583	TMEM231	HP:0010459	True hermaphroditism	HP:0040283	ORPHA:564
79583	TMEM231	HP:0002104	Apnea	HP:0040281	ORPHA:2318
79583	TMEM231	HP:0002104	Apnea	HP:0040283	ORPHA:2754
79583	TMEM231	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:2318
79583	TMEM231	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:2754
79583	TMEM231	HP:0003577	Congenital onset	3/3	OMIM:614970
79583	TMEM231	HP:0003577	Congenital onset	1/1	OMIM:615397
79583	TMEM231	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:2318
79583	TMEM231	HP:0100732	Pancreatic fibrosis	HP:0040283	ORPHA:564
79583	TMEM231	HP:0007036	Hypoplasia of olfactory tract	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0003510	Severe short stature	7/7	OMIM:615777
79583	TMEM231	HP:0002323	Anencephaly	HP:0040283	ORPHA:564
79583	TMEM231	HP:0002315	Headache	-	OMIM:131300
79583	TMEM231	HP:0004976	Knee dislocation	6/7	OMIM:615777
79583	TMEM231	HP:0009803	Short phalanx of finger	-	OMIM:615777
79583	TMEM231	HP:0009763	Limb pain	63/92	OMIM:131300
79583	TMEM231	HP:0003621	Juvenile onset	-	OMIM:131300
79583	TMEM231	HP:0006870	Lobar holoprosencephaly	HP:0040282	ORPHA:564
79583	TMEM231	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
79583	TMEM231	HP:0009084	Midline notch of upper alveolar ridge	HP:0040283	ORPHA:2754
79583	TMEM231	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
79583	TMEM231	HP:0000639	Nystagmus	HP:0040282	ORPHA:2318
79583	TMEM231	HP:0000639	Nystagmus	HP:0040282	ORPHA:2754
79583	TMEM231	HP:6001056	Out-toeing	-	OMIM:131300
79583	TMEM231	HP:0000651	Diplopia	-	OMIM:131300
79583	TMEM231	HP:0000648	Optic atrophy	HP:0040282	ORPHA:564
79583	TMEM231	HP:0000647	Sclerocornea	HP:0040282	ORPHA:564
79583	TMEM231	HP:0000618	Blindness	HP:0040282	ORPHA:2318
79583	TMEM231	HP:0000612	Iris coloboma	HP:0040282	ORPHA:2318
79583	TMEM231	HP:0001956	Truncal obesity	2/7	OMIM:615777
79583	TMEM231	HP:0001903	Anemia	HP:0040283	OMIM:131300
79583	TMEM231	HP:0010049	Short metacarpal	-	OMIM:615777
79583	TMEM231	HP:0000678	Dental crowding	-	OMIM:615777
79583	TMEM231	HP:0000657	Oculomotor apraxia	3/3	OMIM:614970
79583	TMEM231	HP:0000670	Carious teeth	-	OMIM:131300
79583	TMEM231	HP:0011304	Broad thumb	2/7	OMIM:615777
79583	TMEM231	HP:0000668	Hypodontia	-	OMIM:615777
79583	TMEM231	HP:0000664	Synophrys	-	OMIM:615777
79583	TMEM231	HP:0004322	Short stature	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2318
79583	TMEM231	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:564
79583	TMEM231	HP:0004396	Poor appetite	-	OMIM:131300
79583	TMEM231	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
79583	TMEM231	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
79583	TMEM231	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
79583	TMEM231	HP:0003026	Short long bone	7/7	OMIM:615777
79583	TMEM231	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
79583	TMEM231	HP:0000767	Pectus excavatum	2/7	OMIM:615777
79583	TMEM231	HP:0000768	Pectus carinatum	1/7	OMIM:615777
79583	TMEM231	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
79583	TMEM231	HP:0000750	Delayed speech and language development	-	OMIM:615777
79583	TMEM231	HP:0000742	Self-mutilation	1/3	OMIM:614970
79583	TMEM231	HP:0000718	Aggressive behavior	1/3	OMIM:614970
79583	TMEM231	HP:0000729	Autistic behavior	HP:0040282	ORPHA:2318
79583	TMEM231	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2318
79583	TMEM231	HP:0011461	Fetal onset	7/7	OMIM:615777
79583	TMEM231	HP:0000774	Narrow chest	2/7	OMIM:615777
79583	TMEM231	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2318
79583	TMEM231	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0000926	Platyspondyly	1/7	OMIM:615777
79583	TMEM231	HP:0003180	Flat acetabular roof	-	OMIM:615777
79583	TMEM231	HP:0004482	Relative macrocephaly	-	OMIM:615777
79583	TMEM231	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
79583	TMEM231	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:2318
79583	TMEM231	HP:0000823	Delayed puberty	-	OMIM:131300
79583	TMEM231	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:564
79583	TMEM231	HP:0040019	Finger clinodactyly	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0000894	Short clavicles	-	OMIM:615777
79583	TMEM231	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
79583	TMEM231	HP:0100260	Mesoaxial polydactyly	HP:0040283	ORPHA:2754
79583	TMEM231	HP:0100259	Postaxial polydactyly	2/3	OMIM:614970
79583	TMEM231	HP:0100258	Preaxial polydactyly	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
79583	TMEM231	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040282	ORPHA:564
79583	TMEM231	HP:0000286	Epicanthus	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0000286	Epicanthus	1/7	OMIM:615777
79583	TMEM231	HP:0000280	Coarse facial features	2/7	OMIM:615777
79583	TMEM231	HP:0000293	Full cheeks	HP:0040282	ORPHA:564
79583	TMEM231	HP:0000276	Long face	HP:0040282	ORPHA:2318
79583	TMEM231	HP:0000276	Long face	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0002827	Hip dislocation	3/7	OMIM:615777
79583	TMEM231	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:564
79583	TMEM231	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2318
79583	TMEM231	HP:0000252	Microcephaly	HP:0040281	ORPHA:564
79583	TMEM231	HP:0000252	Microcephaly	-	OMIM:615777
79583	TMEM231	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:564
79583	TMEM231	HP:0000218	High palate	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0002876	Episodic tachypnea	HP:0040283	ORPHA:2754
79583	TMEM231	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:564
79583	TMEM231	HP:0001562	Oligohydramnios	1/1	OMIM:615397
79583	TMEM231	HP:0002857	Genu valgum	-	OMIM:131300
79583	TMEM231	HP:0001533	Slender build	-	OMIM:131300
79583	TMEM231	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
79583	TMEM231	HP:0001510	Growth delay	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0007807	Optic nerve compression	-	OMIM:131300
79583	TMEM231	HP:0012368	Flat face	7/7	OMIM:615777
79583	TMEM231	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
79583	TMEM231	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:564
79583	TMEM231	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:564
79583	TMEM231	HP:0000365	Hearing impairment	10/67	OMIM:131300
79583	TMEM231	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:564
79583	TMEM231	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2318
79583	TMEM231	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0000340	Sloping forehead	HP:0040282	ORPHA:564
79583	TMEM231	HP:0000343	Long philtrum	1/7	OMIM:615777
79583	TMEM231	HP:0011001	Increased bone mineral density	-	OMIM:131300
79583	TMEM231	HP:0000347	Micrognathia	HP:0040282	ORPHA:564
79583	TMEM231	HP:0000347	Micrognathia	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0000316	Hypertelorism	HP:0040282	ORPHA:564
79583	TMEM231	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0000311	Round face	2/7	OMIM:615777
79583	TMEM231	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2754
79583	TMEM231	HP:0002970	Genu varum	-	OMIM:615777
79583	TMEM231	HP:0000303	Mandibular prognathia	-	OMIM:131300
79583	TMEM231	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:564
79583	TMEM231	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
79583	TMEM231	HP:0000486	Strabismus	HP:0040283	ORPHA:2318
79583	TMEM231	HP:0000482	Microcornea	HP:0040282	ORPHA:564
79583	TMEM231	HP:0000488	Retinopathy	2/3	OMIM:614970
79583	TMEM231	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2318
79583	TMEM231	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:564
79583	TMEM231	HP:0000470	Short neck	1/7	OMIM:615777
79583	TMEM231	HP:0001769	Broad foot	HP:0040283	OMIM:615777
79583	TMEM231	HP:0001763	Pes planus	1/7	OMIM:615777
79583	TMEM231	HP:0001746	Asplenia	HP:0040283	ORPHA:564
79583	TMEM231	HP:0001747	Accessory spleen	HP:0040283	ORPHA:564
79583	TMEM231	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:2318
79583	TMEM231	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:2754
79583	TMEM231	HP:0006706	Cystic liver disease	HP:0040283	ORPHA:564
79583	TMEM231	HP:0000518	Cataract	HP:0040282	ORPHA:564
79583	TMEM231	HP:0001840	Metatarsus adductus	-	OMIM:615777
79583	TMEM231	HP:0000528	Anophthalmia	HP:0040283	ORPHA:564
79583	TMEM231	HP:0000520	Proptosis	2/4	OMIM:131300
79583	TMEM231	HP:0000520	Proptosis	7/7	OMIM:615777
79583	TMEM231	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:2318
79583	TMEM231	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:2754
79583	TMEM231	HP:0000508	Ptosis	HP:0040282	ORPHA:2318
79583	TMEM231	HP:0000505	Visual impairment	HP:0040282	ORPHA:2318
79583	TMEM231	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:564
79583	TMEM231	HP:0000592	Blue sclerae	2/7	OMIM:615777
79583	TMEM231	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:2318
79583	TMEM231	HP:0000568	Microphthalmia	HP:0040282	ORPHA:564
79583	TMEM231	HP:0000565	Esotropia	HP:0040282	ORPHA:2754
79583	TMEM231	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:2318
79583	TMEM231	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
79583	TMEM231	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:564
79583	TMEM231	HP:0001883	Talipes	HP:0040282	ORPHA:564
79583	TMEM231	HP:0012514	Lower limb pain	4/4	OMIM:131300
79587	CARS2	HP:0010853	EEG with periodic lateralized epileptiform discharges	HP:0040283	ORPHA:477774
79587	CARS2	HP:0001272	Cerebellar atrophy	1/1	OMIM:616672
79587	CARS2	HP:0001268	Mental deterioration	2/2	OMIM:616672
79587	CARS2	HP:0001284	Areflexia	-	OMIM:616672
79587	CARS2	HP:0001252	Hypotonia	1/1	OMIM:616672
79587	CARS2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:477774
79587	CARS2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:477774
79587	CARS2	HP:0001263	Global developmental delay	1/1	OMIM:616672
79587	CARS2	HP:0007351	Upper limb postural tremor	HP:0040283	ORPHA:477774
79587	CARS2	HP:0002506	Diffuse cerebral atrophy	HP:0040282	ORPHA:477774
79587	CARS2	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:477774
79587	CARS2	HP:0031165	Multifocal seizures	HP:0040282	ORPHA:477774
79587	CARS2	HP:0001332	Dystonia	2/2	OMIM:616672
79587	CARS2	HP:0033725	Thin corpus callosum	1/1	OMIM:616672
79587	CARS2	HP:0001344	Absent speech	HP:0040283	ORPHA:477774
79587	CARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616672
79587	CARS2	HP:0001336	Myoclonus	3/3	OMIM:616672
79587	CARS2	HP:0001321	Cerebellar hypoplasia	-	OMIM:616672
79587	CARS2	HP:0001414	Microvesicular hepatic steatosis	1/1	OMIM:616672
79587	CARS2	HP:0002015	Dysphagia	HP:0040283	ORPHA:477774
79587	CARS2	HP:0002069	Bilateral tonic-clonic seizure	2/2	OMIM:616672
79587	CARS2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:477774
79587	CARS2	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:616672
79587	CARS2	HP:0002072	Chorea	1/1	OMIM:616672
79587	CARS2	HP:0002059	Cerebral atrophy	-	OMIM:616672
79587	CARS2	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:477774
79587	CARS2	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:477774
79587	CARS2	HP:0002151	Increased circulating lactate concentration	1/2	OMIM:616672
79587	CARS2	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:477774
79587	CARS2	HP:0002120	Cerebral cortical atrophy	1/1	OMIM:616672
79587	CARS2	HP:0002133	Status epilepticus	HP:0040282	ORPHA:477774
79587	CARS2	HP:0002133	Status epilepticus	1/1	OMIM:616672
79587	CARS2	HP:0011924	Decreased activity of mitochondrial complex III	HP:0040282	ORPHA:477774
79587	CARS2	HP:0011924	Decreased activity of mitochondrial complex III	1/1	OMIM:616672
79587	CARS2	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040282	ORPHA:477774
79587	CARS2	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:616672
79587	CARS2	HP:0002179	Opisthotonus	1/1	OMIM:616672
79587	CARS2	HP:0003593	Infantile onset	1/1	OMIM:616672
79587	CARS2	HP:0002273	Tetraparesis	HP:0040282	ORPHA:477774
79587	CARS2	HP:0002273	Tetraparesis	2/2	OMIM:616672
79587	CARS2	HP:0200134	Epileptic encephalopathy	HP:0040282	ORPHA:477774
79587	CARS2	HP:0200134	Epileptic encephalopathy	1/1	OMIM:616672
79587	CARS2	HP:0002283	Global brain atrophy	1/2	OMIM:616672
79587	CARS2	HP:0008347	Decreased activity of mitochondrial complex IV	HP:0040282	ORPHA:477774
79587	CARS2	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:616672
79587	CARS2	HP:0011968	Feeding difficulties	1/1	OMIM:616672
79587	CARS2	HP:0002376	Developmental regression	HP:0040282	ORPHA:477774
79587	CARS2	HP:0010841	Multifocal epileptiform discharges	-	OMIM:616672
79587	CARS2	HP:0003621	Juvenile onset	2/2	OMIM:616672
79587	CARS2	HP:0006829	Severe muscular hypotonia	-	OMIM:616672
79587	CARS2	HP:0001987	Hyperammonemia	2/2	OMIM:616672
79587	CARS2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:477774
79587	CARS2	HP:0000729	Autistic behavior	HP:0040283	ORPHA:477774
79587	CARS2	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:477774
79587	CARS2	HP:0100275	Diffuse cerebellar atrophy	HP:0040283	ORPHA:477774
79587	CARS2	HP:0000252	Microcephaly	-	OMIM:616672
79587	CARS2	HP:0025517	Hypoplastic hippocampus	HP:0040283	ORPHA:477774
79587	CARS2	HP:0001508	Failure to thrive	1/1	OMIM:616672
79587	CARS2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:477774
79587	CARS2	HP:0000365	Hearing impairment	2/2	OMIM:616672
79587	CARS2	HP:0001790	Nonimmune hydrops fetalis	HP:0040283	ORPHA:477774
79587	CARS2	HP:0005484	Secondary microcephaly	-	OMIM:616672
79587	CARS2	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:477774
79587	CARS2	HP:0000505	Visual impairment	2/2	OMIM:616672
79587	CARS2	HP:0012531	Pain	HP:0040283	ORPHA:477774
79600	TCTN1	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:564
79600	TCTN1	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:564
79600	TCTN1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
79600	TCTN1	HP:0002419	Molar tooth sign on MRI	2/2	OMIM:614173
79600	TCTN1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
79600	TCTN1	HP:0001250	Seizure	HP:0040283	ORPHA:475
79600	TCTN1	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
79600	TCTN1	HP:0001251	Ataxia	HP:0040281	ORPHA:475
79600	TCTN1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
79600	TCTN1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
79600	TCTN1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
79600	TCTN1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:564
79600	TCTN1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
79600	TCTN1	HP:0000068	Urethral atresia	HP:0040283	ORPHA:564
79600	TCTN1	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:564
79600	TCTN1	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:564
79600	TCTN1	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:564
79600	TCTN1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:564
79600	TCTN1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
79600	TCTN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614173
79600	TCTN1	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:564
79600	TCTN1	HP:0001337	Tremor	HP:0040283	ORPHA:475
79600	TCTN1	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:564
79600	TCTN1	HP:0001302	Pachygyria	-	OMIM:614173
79600	TCTN1	HP:0001320	Cerebellar vermis hypoplasia	2/2	OMIM:614173
79600	TCTN1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
79600	TCTN1	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
79600	TCTN1	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:564
79600	TCTN1	HP:0000175	Cleft palate	HP:0040282	ORPHA:564
79600	TCTN1	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
79600	TCTN1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
79600	TCTN1	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
79600	TCTN1	HP:0002084	Encephalocele	HP:0040281	ORPHA:564
79600	TCTN1	HP:0010459	True hermaphroditism	HP:0040283	ORPHA:564
79600	TCTN1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
79600	TCTN1	HP:0002104	Apnea	HP:0040281	ORPHA:475
79600	TCTN1	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
79600	TCTN1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
79600	TCTN1	HP:0100732	Pancreatic fibrosis	HP:0040283	ORPHA:564
79600	TCTN1	HP:0002323	Anencephaly	HP:0040283	ORPHA:564
79600	TCTN1	HP:0006870	Lobar holoprosencephaly	HP:0040282	ORPHA:564
79600	TCTN1	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
79600	TCTN1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:564
79600	TCTN1	HP:0000647	Sclerocornea	HP:0040282	ORPHA:564
79600	TCTN1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
79600	TCTN1	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
79600	TCTN1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
79600	TCTN1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:564
79600	TCTN1	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
79600	TCTN1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
79600	TCTN1	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:564
79600	TCTN1	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040282	ORPHA:564
79600	TCTN1	HP:0000293	Full cheeks	HP:0040282	ORPHA:564
79600	TCTN1	HP:0000276	Long face	HP:0040282	ORPHA:475
79600	TCTN1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
79600	TCTN1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:564
79600	TCTN1	HP:0000252	Microcephaly	HP:0040281	ORPHA:564
79600	TCTN1	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:564
79600	TCTN1	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
79600	TCTN1	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:564
79600	TCTN1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
79600	TCTN1	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:564
79600	TCTN1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
79600	TCTN1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:564
79600	TCTN1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:564
79600	TCTN1	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
79600	TCTN1	HP:0000340	Sloping forehead	HP:0040282	ORPHA:564
79600	TCTN1	HP:0000347	Micrognathia	HP:0040282	ORPHA:564
79600	TCTN1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:564
79600	TCTN1	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:564
79600	TCTN1	HP:0000486	Strabismus	HP:0040283	ORPHA:475
79600	TCTN1	HP:0000482	Microcornea	HP:0040282	ORPHA:564
79600	TCTN1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
79600	TCTN1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:564
79600	TCTN1	HP:0001746	Asplenia	HP:0040283	ORPHA:564
79600	TCTN1	HP:0001747	Accessory spleen	HP:0040283	ORPHA:564
79600	TCTN1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
79600	TCTN1	HP:0006706	Cystic liver disease	HP:0040283	ORPHA:564
79600	TCTN1	HP:0000518	Cataract	HP:0040282	ORPHA:564
79600	TCTN1	HP:0000528	Anophthalmia	HP:0040283	ORPHA:564
79600	TCTN1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
79600	TCTN1	HP:0000508	Ptosis	HP:0040283	ORPHA:475
79600	TCTN1	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:564
79600	TCTN1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:564
79600	TCTN1	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:564
79600	TCTN1	HP:0001883	Talipes	HP:0040282	ORPHA:564
79621	RNASEH2B	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0001298	Encephalopathy	-	OMIM:610181
79621	RNASEH2B	HP:0001276	Hypertonia	HP:0040281	ORPHA:51
79621	RNASEH2B	HP:0100827	Increased total lymphocyte count	-	OMIM:610181
79621	RNASEH2B	HP:0001288	Gait disturbance	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0001250	Seizure	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0001263	Global developmental delay	HP:0040281	ORPHA:51
79621	RNASEH2B	HP:0001258	Spastic paraplegia	HP:0040283	OMIM:610181
79621	RNASEH2B	HP:0001257	Spasticity	HP:0040281	ORPHA:51
79621	RNASEH2B	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0003828	Variable expressivity	-	OMIM:610181
79621	RNASEH2B	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0001369	Arthritis	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0000054	Micropenis	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0001332	Dystonia	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0001332	Dystonia	HP:0040283	OMIM:610181
79621	RNASEH2B	HP:0000007	Autosomal recessive inheritance	-	OMIM:610181
79621	RNASEH2B	HP:0001337	Tremor	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0002650	Scoliosis	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0002059	Cerebral atrophy	-	OMIM:610181
79621	RNASEH2B	HP:0100578	Lipoatrophy	HP:0040284	ORPHA:51
79621	RNASEH2B	HP:0002139	Arrhinencephaly	HP:0040281	ORPHA:51
79621	RNASEH2B	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0002135	Basal ganglia calcification	-	OMIM:610181
79621	RNASEH2B	HP:0002132	Porencephalic cyst	HP:0040281	ORPHA:51
79621	RNASEH2B	HP:0002187	Intellectual disability, profound	HP:0040281	ORPHA:51
79621	RNASEH2B	HP:0011834	Moyamoya phenomenon	HP:0040284	ORPHA:51
79621	RNASEH2B	HP:0003552	Muscle stiffness	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0009709	Increased CSF interferon alpha	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0009710	Chilblains	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0009704	Chronic CSF lymphocytosis	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0009704	Chronic CSF lymphocytosis	-	OMIM:610181
79621	RNASEH2B	HP:0004809	Neonatal alloimmune thrombocytopenia	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0007076	Extrapyramidal muscular rigidity	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0007052	Multifocal cerebral white matter abnormalities	HP:0040281	ORPHA:51
79621	RNASEH2B	HP:0001063	Acrocyanosis	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0002376	Developmental regression	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0002371	Loss of speech	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0002315	Headache	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0100614	Myositis	HP:0040284	ORPHA:51
79621	RNASEH2B	HP:0001087	Developmental glaucoma	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0004963	Calcification of the aorta	HP:0040284	ORPHA:51
79621	RNASEH2B	HP:0004942	Aortic aneurysm	HP:0040284	ORPHA:51
79621	RNASEH2B	HP:0005550	Chronic lymphatic leukemia	HP:0040284	ORPHA:51
79621	RNASEH2B	HP:0000639	Nystagmus	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0001955	Unexplained fevers	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0000625	Eyelid coloboma	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0004322	Short stature	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0000737	Irritability	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0030880	Raynaud phenomenon	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0000958	Dry skin	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0000965	Cutis marmorata	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0040140	Degeneration of the striatum	HP:0040284	ORPHA:51
79621	RNASEH2B	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0000252	Microcephaly	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0000252	Microcephaly	HP:0040283	OMIM:610181
79621	RNASEH2B	HP:0030038	Enchondroma	HP:0040284	ORPHA:51
79621	RNASEH2B	HP:0006579	Prolonged neonatal jaundice	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0001609	Hoarse voice	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0000369	Low-set ears	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0002960	Autoimmunity	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:51
79621	RNASEH2B	HP:0012490	Panniculitis	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0012444	Brain atrophy	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:51
79621	RNASEH2B	HP:0000508	Ptosis	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0000501	Glaucoma	HP:0040283	ORPHA:51
79621	RNASEH2B	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040282	ORPHA:51
79625	NDNF	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
79625	NDNF	HP:0001250	Seizure	HP:0040283	ORPHA:478
79625	NDNF	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
79625	NDNF	HP:0001251	Ataxia	HP:0040283	ORPHA:478
79625	NDNF	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
79625	NDNF	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
79625	NDNF	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
79625	NDNF	HP:0008724	Hypoplasia of the ovary	1/1	OMIM:618841
79625	NDNF	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
79625	NDNF	HP:0000054	Micropenis	HP:0040281	ORPHA:478
79625	NDNF	HP:0000054	Micropenis	3/3	OMIM:618841
79625	NDNF	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
79625	NDNF	HP:0000028	Cryptorchidism	3/3	OMIM:618841
79625	NDNF	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
79625	NDNF	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
79625	NDNF	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
79625	NDNF	HP:0001337	Tremor	HP:0040283	ORPHA:478
79625	NDNF	HP:0000006	Autosomal dominant inheritance	-	OMIM:618841
79625	NDNF	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
79625	NDNF	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
79625	NDNF	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
79625	NDNF	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
79625	NDNF	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
79625	NDNF	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
79625	NDNF	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
79625	NDNF	HP:0008214	Decreased serum estradiol	1/1	OMIM:618841
79625	NDNF	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
79625	NDNF	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
79625	NDNF	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
79625	NDNF	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
79625	NDNF	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
79625	NDNF	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
79625	NDNF	HP:0000786	Primary amenorrhea	1/1	OMIM:618841
79625	NDNF	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
79625	NDNF	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
79625	NDNF	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
79625	NDNF	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	4/4	OMIM:618841
79625	NDNF	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
79625	NDNF	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
79625	NDNF	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
79625	NDNF	HP:0040171	Decreased serum testosterone concentration	3/3	OMIM:618841
79625	NDNF	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
79625	NDNF	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
79625	NDNF	HP:0001513	Obesity	HP:0040283	ORPHA:478
79625	NDNF	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
79625	NDNF	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
79625	NDNF	HP:0000458	Anosmia	4/4	OMIM:618841
79625	NDNF	HP:0000458	Anosmia	HP:0040281	ORPHA:478
79625	NDNF	HP:0001763	Pes planus	HP:0040283	ORPHA:478
79625	NDNF	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
79625	NDNF	HP:0000508	Ptosis	HP:0040283	ORPHA:478
79625	NDNF	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
79625	NDNF	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
79628	SH3TC2	HP:0002460	Distal muscle weakness	18/18	OMIM:601596
79628	SH3TC2	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:99949
79628	SH3TC2	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0009916	Anisocoria	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0010871	Sensory ataxia	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0007209	Facial paralysis	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0002403	Positive Romberg sign	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0003701	Proximal muscle weakness	9/18	OMIM:601596
79628	SH3TC2	HP:0001291	Abnormal cranial nerve morphology	-	OMIM:601596
79628	SH3TC2	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0001270	Motor delay	-	OMIM:601596
79628	SH3TC2	HP:0001288	Gait disturbance	-	OMIM:601596
79628	SH3TC2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:99949
79628	SH3TC2	HP:0001284	Areflexia	HP:0040282	ORPHA:99949
79628	SH3TC2	HP:0001260	Dysarthria	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0002540	Inability to walk	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:601596
79628	SH3TC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613353
79628	SH3TC2	HP:0001308	Tongue fasciculations	-	OMIM:601596
79628	SH3TC2	HP:0001308	Tongue fasciculations	HP:0040282	ORPHA:99949
79628	SH3TC2	HP:0002650	Scoliosis	11/18	OMIM:601596
79628	SH3TC2	HP:0002650	Scoliosis	HP:0040282	ORPHA:99949
79628	SH3TC2	HP:0012185	Constrictive median neuropathy	5/5	OMIM:613353
79628	SH3TC2	HP:0000183	Tongue muscle weakness	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0002791	Hypoventilation	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0003326	Myalgia	HP:0040282	ORPHA:99949
79628	SH3TC2	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0002066	Gait ataxia	HP:0040282	ORPHA:99949
79628	SH3TC2	HP:0003394	Muscle spasm	HP:0040282	ORPHA:99949
79628	SH3TC2	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	-	OMIM:601596
79628	SH3TC2	HP:0003380	Decreased number of peripheral myelinated nerve fibers	HP:0040281	ORPHA:99949
79628	SH3TC2	HP:0003477	Peripheral axonal neuropathy	2/5	OMIM:613353
79628	SH3TC2	HP:0003484	Upper limb muscle weakness	-	OMIM:601596
79628	SH3TC2	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:601596
79628	SH3TC2	HP:0003431	Decreased motor nerve conduction velocity	HP:0040281	ORPHA:99949
79628	SH3TC2	HP:0003444	EMG: chronic denervation signs	HP:0040281	ORPHA:99949
79628	SH3TC2	HP:0003400	Basal lamina onion bulb formation	-	OMIM:601596
79628	SH3TC2	HP:0003593	Infantile onset	7/17	OMIM:601596
79628	SH3TC2	HP:0003581	Adult onset	-	OMIM:613353
79628	SH3TC2	HP:0010628	Facial palsy	-	OMIM:601596
79628	SH3TC2	HP:0003693	Distal amyotrophy	15/18	OMIM:601596
79628	SH3TC2	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:99949
79628	SH3TC2	HP:0002359	Frequent falls	HP:0040282	ORPHA:99949
79628	SH3TC2	HP:0002346	Head tremor	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0100661	Trigeminal neuralgia	HP:0040284	ORPHA:99949
79628	SH3TC2	HP:0009831	Mononeuropathy	-	OMIM:613353
79628	SH3TC2	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:99949
79628	SH3TC2	HP:0008443	Neuropathic spinal arthropathy	HP:0040282	ORPHA:99949
79628	SH3TC2	HP:0007107	Segmental peripheral demyelination	-	OMIM:601596
79628	SH3TC2	HP:0007108	Demyelinating peripheral neuropathy	HP:0040281	ORPHA:99949
79628	SH3TC2	HP:0002307	Drooling	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0003621	Juvenile onset	8/17	OMIM:601596
79628	SH3TC2	HP:0006886	Impaired distal vibration sensation	HP:0040282	ORPHA:99949
79628	SH3TC2	HP:0000639	Nystagmus	1/18	OMIM:601596
79628	SH3TC2	HP:0000639	Nystagmus	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0000651	Diplopia	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:99949
79628	SH3TC2	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:99949
79628	SH3TC2	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:99949
79628	SH3TC2	HP:0000764	Peripheral axonal degeneration	-	OMIM:601596
79628	SH3TC2	HP:0011463	Childhood onset	2/17	OMIM:601596
79628	SH3TC2	HP:0004466	Delayed brainstem auditory evoked response conduction time	-	OMIM:601596
79628	SH3TC2	HP:0040078	Axonal degeneration	-	OMIM:601596
79628	SH3TC2	HP:0034347	Greater auricular nerve thickening	1/18	OMIM:601596
79628	SH3TC2	HP:0008081	Pes valgus	HP:0040284	ORPHA:99949
79628	SH3TC2	HP:0007695	Abnormal pupillary light reflex	-	OMIM:601596
79628	SH3TC2	HP:0007695	Abnormal pupillary light reflex	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0001508	Failure to thrive	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0002936	Distal sensory impairment	18/18	OMIM:601596
79628	SH3TC2	HP:0001604	Vocal cord paresis	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0000365	Hearing impairment	2/18	OMIM:601596
79628	SH3TC2	HP:0030319	Weakness of facial musculature	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0007994	Peripheral visual field loss	HP:0040284	ORPHA:99949
79628	SH3TC2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0000486	Strabismus	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0012473	Tongue atrophy	-	OMIM:601596
79628	SH3TC2	HP:0012473	Tongue atrophy	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0001763	Pes planus	HP:0040283	ORPHA:99949
79628	SH3TC2	HP:0001765	Hammertoe	9/18	OMIM:601596
79628	SH3TC2	HP:0001765	Hammertoe	HP:0040282	ORPHA:99949
79628	SH3TC2	HP:0001760	Abnormal foot morphology	HP:0040281	ORPHA:99949
79628	SH3TC2	HP:0001762	Talipes equinovarus	5/18	OMIM:601596
79628	SH3TC2	HP:0001761	Pes cavus	9/18	OMIM:601596
79628	SH3TC2	HP:0001761	Pes cavus	HP:0040282	ORPHA:99949
79628	SH3TC2	HP:0000587	Abnormal optic nerve morphology	HP:0040283	ORPHA:99949
79631	EFL1	HP:0001167	Abnormal finger morphology	HP:0040284	ORPHA:811
79631	EFL1	HP:0410255	Transiently decreased total neutrophil count	HP:0040282	ORPHA:811
79631	EFL1	HP:0410252	Persistently decreased total neutrophil count	HP:0040282	ORPHA:811
79631	EFL1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
79631	EFL1	HP:0001293	Cranial nerve compression	-	OMIM:131300
79631	EFL1	HP:0100806	Sepsis	HP:0040284	ORPHA:811
79631	EFL1	HP:0001252	Hypotonia	5/6	OMIM:617941
79631	EFL1	HP:0001252	Hypotonia	2/7	OMIM:615777
79631	EFL1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:811
79631	EFL1	HP:0001249	Intellectual disability	5/7	OMIM:615777
79631	EFL1	HP:0002594	Pancreatic hypoplasia	HP:0040282	ORPHA:811
79631	EFL1	HP:0001263	Global developmental delay	6/6	OMIM:617941
79631	EFL1	HP:0001263	Global developmental delay	-	OMIM:615777
79631	EFL1	HP:0002570	Steatorrhea	4/4	OMIM:617941
79631	EFL1	HP:0002570	Steatorrhea	HP:0040282	ORPHA:811
79631	EFL1	HP:0410289	Hypoamylasemia	HP:0040282	ORPHA:811
79631	EFL1	HP:0002515	Waddling gait	54/102	OMIM:131300
79631	EFL1	HP:0003819	Death in childhood	2/6	OMIM:617941
79631	EFL1	HP:0001367	Abnormal joint morphology	HP:0040283	ORPHA:811
79631	EFL1	HP:0001382	Joint hypermobility	-	OMIM:615777
79631	EFL1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
79631	EFL1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
79631	EFL1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
79631	EFL1	HP:0001324	Muscle weakness	40/96	OMIM:131300
79631	EFL1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
79631	EFL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
79631	EFL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617941
79631	EFL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
79631	EFL1	HP:0002650	Scoliosis	12/14	OMIM:131300
79631	EFL1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
79631	EFL1	HP:0002630	Fat malabsorption	HP:0040281	ORPHA:811
79631	EFL1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
79631	EFL1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
79631	EFL1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
79631	EFL1	HP:0000175	Cleft palate	2/7	OMIM:615777
79631	EFL1	HP:0000155	Oral ulcer	HP:0040284	ORPHA:811
79631	EFL1	HP:0006276	Hyperechogenic pancreas	4/4	OMIM:617941
79631	EFL1	HP:0002754	Osteomyelitis	HP:0040284	ORPHA:811
79631	EFL1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:811
79631	EFL1	HP:0002719	Recurrent infections	1/6	OMIM:617941
79631	EFL1	HP:0002718	Recurrent bacterial infections	HP:0040283	ORPHA:811
79631	EFL1	HP:0002721	Immunodeficiency	HP:0040284	ORPHA:811
79631	EFL1	HP:0002014	Diarrhea	5/6	OMIM:617941
79631	EFL1	HP:0002090	Pneumonia	HP:0040283	ORPHA:811
79631	EFL1	HP:0003388	Easy fatigability	36/76	OMIM:131300
79631	EFL1	HP:0100512	Decreased circulating vitamin D concentration	HP:0040282	ORPHA:811
79631	EFL1	HP:0100513	Decreased circulating vitamin E concentration	HP:0040282	ORPHA:811
79631	EFL1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
79631	EFL1	HP:0008151	Prolonged prothrombin time	4/4	OMIM:617941
79631	EFL1	HP:0011892	Decreased circulating vitamin K concentration	HP:0040282	ORPHA:811
79631	EFL1	HP:0003593	Infantile onset	5/6	OMIM:617941
79631	EFL1	HP:0002240	Hepatomegaly	HP:0040284	ORPHA:811
79631	EFL1	HP:0002240	Hepatomegaly	1/6	OMIM:617941
79631	EFL1	HP:0003510	Severe short stature	7/7	OMIM:615777
79631	EFL1	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:811
79631	EFL1	HP:0002315	Headache	-	OMIM:131300
79631	EFL1	HP:0004976	Knee dislocation	6/7	OMIM:615777
79631	EFL1	HP:0003645	Prolonged partial thromboplastin time	4/4	OMIM:617941
79631	EFL1	HP:0009803	Short phalanx of finger	-	OMIM:615777
79631	EFL1	HP:0009763	Limb pain	63/92	OMIM:131300
79631	EFL1	HP:0003621	Juvenile onset	-	OMIM:131300
79631	EFL1	HP:0004905	Reduced circulating vitamin A concentration	HP:0040282	ORPHA:811
79631	EFL1	HP:0005528	Bone marrow hypocellularity	HP:0040283	ORPHA:811
79631	EFL1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
79631	EFL1	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:811
79631	EFL1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
79631	EFL1	HP:6001056	Out-toeing	-	OMIM:131300
79631	EFL1	HP:0000651	Diplopia	-	OMIM:131300
79631	EFL1	HP:0001972	Macrocytic anemia	HP:0040282	ORPHA:811
79631	EFL1	HP:0001956	Truncal obesity	2/7	OMIM:615777
79631	EFL1	HP:0001909	Leukemia	HP:0040283	ORPHA:811
79631	EFL1	HP:0001903	Anemia	HP:0040281	ORPHA:811
79631	EFL1	HP:0001903	Anemia	HP:0040283	OMIM:131300
79631	EFL1	HP:0001915	Aplastic anemia	HP:0040283	ORPHA:811
79631	EFL1	HP:0010049	Short metacarpal	-	OMIM:615777
79631	EFL1	HP:0000684	Delayed eruption of teeth	HP:0040284	ORPHA:811
79631	EFL1	HP:0000678	Dental crowding	-	OMIM:615777
79631	EFL1	HP:0000670	Carious teeth	HP:0040283	ORPHA:811
79631	EFL1	HP:0000670	Carious teeth	-	OMIM:131300
79631	EFL1	HP:0011304	Broad thumb	2/7	OMIM:615777
79631	EFL1	HP:0000668	Hypodontia	-	OMIM:615777
79631	EFL1	HP:0000664	Synophrys	-	OMIM:615777
79631	EFL1	HP:0004322	Short stature	HP:0040282	ORPHA:811
79631	EFL1	HP:0004322	Short stature	-	OMIM:617941
79631	EFL1	HP:0004396	Poor appetite	-	OMIM:131300
79631	EFL1	HP:0004395	Malnutrition	HP:0040282	ORPHA:811
79631	EFL1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
79631	EFL1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
79631	EFL1	HP:0003016	Metaphyseal widening	-	OMIM:617941
79631	EFL1	HP:0003016	Metaphyseal widening	HP:0040283	ORPHA:811
79631	EFL1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
79631	EFL1	HP:0003026	Short long bone	7/7	OMIM:615777
79631	EFL1	HP:0003025	Metaphyseal irregularity	4/4	OMIM:617941
79631	EFL1	HP:0003025	Metaphyseal irregularity	HP:0040283	ORPHA:811
79631	EFL1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
79631	EFL1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
79631	EFL1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
79631	EFL1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
79631	EFL1	HP:0000736	Short attention span	HP:0040283	ORPHA:811
79631	EFL1	HP:0000750	Delayed speech and language development	-	OMIM:615777
79631	EFL1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:811
79631	EFL1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:811
79631	EFL1	HP:0011463	Childhood onset	1/6	OMIM:617941
79631	EFL1	HP:0011461	Fetal onset	7/7	OMIM:615777
79631	EFL1	HP:0000774	Narrow chest	2/7	OMIM:615777
79631	EFL1	HP:0004429	Recurrent viral infections	HP:0040283	ORPHA:811
79631	EFL1	HP:0000924	Abnormality of the skeletal system	HP:0040281	ORPHA:811
79631	EFL1	HP:0000926	Platyspondyly	1/7	OMIM:615777
79631	EFL1	HP:0003180	Flat acetabular roof	-	OMIM:615777
79631	EFL1	HP:0000907	Anterior rib cupping	4/4	OMIM:617941
79631	EFL1	HP:0004482	Relative macrocephaly	-	OMIM:615777
79631	EFL1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
79631	EFL1	HP:0000886	Deformed rib cage	HP:0040283	ORPHA:811
79631	EFL1	HP:0000819	Diabetes mellitus	HP:0040284	ORPHA:811
79631	EFL1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040284	ORPHA:811
79631	EFL1	HP:0000823	Delayed puberty	-	OMIM:131300
79631	EFL1	HP:0040075	Hypopituitarism	HP:0040284	ORPHA:811
79631	EFL1	HP:0000894	Short clavicles	-	OMIM:615777
79631	EFL1	HP:0005871	Metaphyseal chondrodysplasia	HP:0040283	ORPHA:811
79631	EFL1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
79631	EFL1	HP:0040238	Impaired neutrophil chemotaxis	HP:0040282	ORPHA:811
79631	EFL1	HP:0045027	Abnormality of the thoracic cavity	HP:0040283	ORPHA:811
79631	EFL1	HP:0000988	Skin rash	HP:0040283	ORPHA:811
79631	EFL1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
79631	EFL1	HP:0000964	Eczematoid dermatitis	HP:0040284	ORPHA:811
79631	EFL1	HP:0000938	Osteopenia	HP:0040283	ORPHA:811
79631	EFL1	HP:0008064	Ichthyosis	HP:0040284	ORPHA:811
79631	EFL1	HP:0000286	Epicanthus	1/7	OMIM:615777
79631	EFL1	HP:0000280	Coarse facial features	2/7	OMIM:615777
79631	EFL1	HP:0006461	Proximal femoral epiphysiolysis	HP:0040284	ORPHA:811
79631	EFL1	HP:0002827	Hip dislocation	3/7	OMIM:615777
79631	EFL1	HP:0000252	Microcephaly	4/6	OMIM:617941
79631	EFL1	HP:0000252	Microcephaly	-	OMIM:615777
79631	EFL1	HP:0000246	Sinusitis	HP:0040283	ORPHA:811
79631	EFL1	HP:0012202	Increased serum bile acid concentration	HP:0040282	ORPHA:811
79631	EFL1	HP:0000218	High palate	4/6	OMIM:617941
79631	EFL1	HP:0002857	Genu valgum	-	OMIM:131300
79631	EFL1	HP:0001522	Death in infancy	1/6	OMIM:617941
79631	EFL1	HP:0001533	Slender build	-	OMIM:131300
79631	EFL1	HP:0002863	Myelodysplasia	HP:0040282	ORPHA:811
79631	EFL1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:811
79631	EFL1	HP:0001508	Failure to thrive	5/6	OMIM:617941
79631	EFL1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
79631	EFL1	HP:0001510	Growth delay	HP:0040282	ORPHA:811
79631	EFL1	HP:0007807	Optic nerve compression	-	OMIM:131300
79631	EFL1	HP:0012368	Flat face	7/7	OMIM:615777
79631	EFL1	HP:0001607	Subglottic stenosis	HP:0040284	OMIM:617941
79631	EFL1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
79631	EFL1	HP:0001601	Laryngomalacia	1/6	OMIM:617941
79631	EFL1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040284	ORPHA:811
79631	EFL1	HP:0000365	Hearing impairment	HP:0040284	ORPHA:811
79631	EFL1	HP:0000365	Hearing impairment	10/67	OMIM:131300
79631	EFL1	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040281	ORPHA:811
79631	EFL1	HP:0000356	Abnormality of the outer ear	HP:0040284	ORPHA:811
79631	EFL1	HP:0011003	High myopia	2/6	OMIM:617941
79631	EFL1	HP:0000369	Low-set ears	4/6	OMIM:617941
79631	EFL1	HP:0000343	Long philtrum	1/7	OMIM:615777
79631	EFL1	HP:0011001	Increased bone mineral density	-	OMIM:131300
79631	EFL1	HP:0000311	Round face	2/7	OMIM:615777
79631	EFL1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:811
79631	EFL1	HP:0002953	Vertebral compression fracture	HP:0040283	ORPHA:811
79631	EFL1	HP:0002970	Genu varum	2/6	OMIM:617941
79631	EFL1	HP:0002970	Genu varum	-	OMIM:615777
79631	EFL1	HP:0000303	Mandibular prognathia	-	OMIM:131300
79631	EFL1	HP:0001738	Exocrine pancreatic insufficiency	6/6	OMIM:617941
79631	EFL1	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:811
79631	EFL1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
79631	EFL1	HP:0000470	Short neck	1/7	OMIM:615777
79631	EFL1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
79631	EFL1	HP:0001763	Pes planus	1/7	OMIM:615777
79631	EFL1	HP:0001840	Metatarsus adductus	-	OMIM:615777
79631	EFL1	HP:0000520	Proptosis	2/4	OMIM:131300
79631	EFL1	HP:0000520	Proptosis	7/7	OMIM:615777
79631	EFL1	HP:0000592	Blue sclerae	2/7	OMIM:615777
79631	EFL1	HP:0001897	Normocytic anemia	4/5	OMIM:617941
79631	EFL1	HP:0001897	Normocytic anemia	HP:0040282	ORPHA:811
79631	EFL1	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:811
79631	EFL1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
79631	EFL1	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:811
79631	EFL1	HP:0012514	Lower limb pain	4/4	OMIM:131300
79631	EFL1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:811
79631	EFL1	HP:0001873	Thrombocytopenia	4/4	OMIM:617941
79631	EFL1	HP:0001876	Pancytopenia	HP:0040283	ORPHA:811
79631	EFL1	HP:0001875	Decreased total neutrophil count	HP:0040281	ORPHA:811
79631	EFL1	HP:0001875	Decreased total neutrophil count	5/5	OMIM:617941
79633	FAT4	HP:0001159	Syndactyly	2/8	OMIM:616006
79633	FAT4	HP:0001159	Syndactyly	HP:0040282	ORPHA:314679
79633	FAT4	HP:0001195	Single umbilical artery	1/1	OMIM:615546
79633	FAT4	HP:0009890	High anterior hairline	1/1	OMIM:615546
79633	FAT4	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:314679
79633	FAT4	HP:0008551	Microtia	8/8	OMIM:616006
79633	FAT4	HP:0008551	Microtia	HP:0040281	ORPHA:314679
79633	FAT4	HP:0008551	Microtia	1/1	OMIM:615546
79633	FAT4	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:314679
79633	FAT4	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:2136
79633	FAT4	HP:0001256	Intellectual disability, mild	7/9	OMIM:616006
79633	FAT4	HP:0001250	Seizure	HP:0040282	ORPHA:2136
79633	FAT4	HP:0001252	Hypotonia	2/2	OMIM:615546
79633	FAT4	HP:0001251	Ataxia	HP:0040283	ORPHA:314679
79633	FAT4	HP:0001249	Intellectual disability	-	OMIM:615546
79633	FAT4	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2136
79633	FAT4	HP:0002593	Intestinal lymphangiectasia	7/9	OMIM:616006
79633	FAT4	HP:0001263	Global developmental delay	1/1	OMIM:615546
79633	FAT4	HP:0001263	Global developmental delay	HP:0040281	ORPHA:314679
79633	FAT4	HP:0002557	Hypoplastic nipples	1/1	OMIM:615546
79633	FAT4	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:2136
79633	FAT4	HP:0032388	Periventricular nodular heterotopia	3/5	OMIM:615546
79633	FAT4	HP:0000089	Renal hypoplasia	6/6	OMIM:615546
79633	FAT4	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:314679
79633	FAT4	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:2136
79633	FAT4	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:2136
79633	FAT4	HP:0000054	Micropenis	1/1	OMIM:615546
79633	FAT4	HP:0001382	Joint hypermobility	-	OMIM:615546
79633	FAT4	HP:0000048	Bifid scrotum	1/1	OMIM:615546
79633	FAT4	HP:0000047	Hypospadias	HP:0040283	ORPHA:314679
79633	FAT4	HP:0000047	Hypospadias	-	OMIM:615546
79633	FAT4	HP:0000023	Inguinal hernia	1/1	OMIM:615546
79633	FAT4	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:2136
79633	FAT4	HP:0000028	Cryptorchidism	1/1	OMIM:615546
79633	FAT4	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:314679
79633	FAT4	HP:0032409	Subcortical band heterotopia	-	OMIM:615546
79633	FAT4	HP:0000007	Autosomal recessive inheritance	-	OMIM:616006
79633	FAT4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615546
79633	FAT4	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
79633	FAT4	HP:0001302	Pachygyria	HP:0040283	ORPHA:2136
79633	FAT4	HP:0002652	Skeletal dysplasia	-	OMIM:615546
79633	FAT4	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:314679
79633	FAT4	HP:0002650	Scoliosis	-	OMIM:615546
79633	FAT4	HP:0002619	Varicose veins	-	OMIM:153400
79633	FAT4	HP:0000160	Narrow mouth	6/9	OMIM:616006
79633	FAT4	HP:0000160	Narrow mouth	HP:0040283	ORPHA:2136
79633	FAT4	HP:0000160	Narrow mouth	HP:0040283	ORPHA:314679
79633	FAT4	HP:0000175	Cleft palate	5/39	OMIM:153400
79633	FAT4	HP:0008947	Floppy infant	HP:0040281	ORPHA:314679
79633	FAT4	HP:0002779	Tracheomalacia	HP:0040283	ORPHA:314679
79633	FAT4	HP:0002779	Tracheomalacia	-	OMIM:615546
79633	FAT4	HP:0002778	Abnormal tracheal morphology	0/13	OMIM:616006
79633	FAT4	HP:0002778	Abnormal tracheal morphology	HP:0040282	ORPHA:314679
79633	FAT4	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:2136
79633	FAT4	HP:0002714	Downturned corners of mouth	-	OMIM:615546
79633	FAT4	HP:0002025	Anal stenosis	HP:0040283	ORPHA:314679
79633	FAT4	HP:0002024	Malabsorption	HP:0040281	ORPHA:2136
79633	FAT4	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:2136
79633	FAT4	HP:0004689	Short fourth metatarsal	-	OMIM:615546
79633	FAT4	HP:0011800	Midface retrusion	-	OMIM:615546
79633	FAT4	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:2136
79633	FAT4	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:314679
79633	FAT4	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:615546
79633	FAT4	HP:0008197	Absence of pubertal development	HP:0040283	ORPHA:314679
79633	FAT4	HP:0009487	Ulnar deviation of the hand	1/1	OMIM:615546
79633	FAT4	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:314679
79633	FAT4	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2136
79633	FAT4	HP:0010554	Cutaneous finger syndactyly	1/1	OMIM:615546
79633	FAT4	HP:0010537	Wide cranial sutures	-	OMIM:615546
79633	FAT4	HP:0011830	Abnormal oral mucosa morphology	HP:0040282	ORPHA:2136
79633	FAT4	HP:0003577	Congenital onset	1/1	OMIM:615546
79633	FAT4	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:314679
79633	FAT4	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
79633	FAT4	HP:0002215	Sparse axillary hair	HP:0040283	ORPHA:2136
79633	FAT4	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:2136
79633	FAT4	HP:0200138	Bilateral choanal atresia/stenosis	HP:0040283	ORPHA:314679
79633	FAT4	HP:0100764	Lymphangioma	HP:0040281	ORPHA:2136
79633	FAT4	HP:0009743	Distichiasis	42/42	OMIM:153400
79633	FAT4	HP:0002282	Gray matter heterotopia	HP:0040283	ORPHA:314679
79633	FAT4	HP:0002282	Gray matter heterotopia	-	OMIM:615546
79633	FAT4	HP:0011968	Feeding difficulties	1/1	OMIM:615546
79633	FAT4	HP:0010621	Cutaneous syndactyly of toes	1/1	OMIM:615546
79633	FAT4	HP:0001055	Erysipelas	HP:0040282	ORPHA:2136
79633	FAT4	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:314679
79633	FAT4	HP:0001004	Lymphedema	-	OMIM:616006
79633	FAT4	HP:0001004	Lymphedema	HP:0040281	ORPHA:2136
79633	FAT4	HP:0001004	Lymphedema	HP:0040283	ORPHA:314679
79633	FAT4	HP:0001004	Lymphedema	-	OMIM:153400
79633	FAT4	HP:0100658	Cellulitis	2/6	OMIM:153400
79633	FAT4	HP:0010804	Tented upper lip vermilion	-	OMIM:615546
79633	FAT4	HP:0009804	Tooth agenesis	HP:0040281	ORPHA:2136
79633	FAT4	HP:0000613	Photophobia	10/49	OMIM:153400
79633	FAT4	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
79633	FAT4	HP:0010044	Short 4th metacarpal	-	OMIM:615546
79633	FAT4	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:2136
79633	FAT4	HP:0000689	Dental malocclusion	-	OMIM:615546
79633	FAT4	HP:0000656	Ectropion	2/43	OMIM:153400
79633	FAT4	HP:0001999	Abnormal facial shape	9/9	OMIM:616006
79633	FAT4	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:2136
79633	FAT4	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:314679
79633	FAT4	HP:0006989	Dysplastic corpus callosum	HP:0040283	ORPHA:314679
79633	FAT4	HP:0004322	Short stature	HP:0040283	ORPHA:314679
79633	FAT4	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:2136
79633	FAT4	HP:0003011	Abnormality of the musculature	-	OMIM:153400
79633	FAT4	HP:0012745	Short palpebral fissure	-	OMIM:615546
79633	FAT4	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:2136
79633	FAT4	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040282	ORPHA:314679
79633	FAT4	HP:0000774	Narrow chest	HP:0040282	ORPHA:2136
79633	FAT4	HP:0000774	Narrow chest	-	OMIM:615546
79633	FAT4	HP:0012804	Corneal ulceration	-	OMIM:153400
79633	FAT4	HP:0040079	Irregular dentition	8/8	OMIM:616006
79633	FAT4	HP:0040079	Irregular dentition	-	OMIM:615546
79633	FAT4	HP:0040079	Irregular dentition	HP:0040283	ORPHA:314679
79633	FAT4	HP:0000894	Short clavicles	-	OMIM:615546
79633	FAT4	HP:0010310	Chylothorax	1/6	OMIM:153400
79633	FAT4	HP:0010310	Chylothorax	HP:0040283	ORPHA:2136
79633	FAT4	HP:0000960	Sacral dimple	1/1	OMIM:615546
79633	FAT4	HP:0000939	Osteoporosis	2/9	OMIM:616006
79633	FAT4	HP:0000938	Osteopenia	HP:0040282	ORPHA:314679
79633	FAT4	HP:0000938	Osteopenia	-	OMIM:615546
79633	FAT4	HP:0045025	Narrow palpebral fissure	1/1	OMIM:615546
79633	FAT4	HP:0011675	Arrhythmia	-	OMIM:153400
79633	FAT4	HP:0000286	Epicanthus	HP:0040283	ORPHA:314679
79633	FAT4	HP:0000286	Epicanthus	HP:0040282	ORPHA:2136
79633	FAT4	HP:0000286	Epicanthus	9/9	OMIM:616006
79633	FAT4	HP:0000286	Epicanthus	1/1	OMIM:615546
79633	FAT4	HP:0000278	Retrognathia	HP:0040283	ORPHA:2136
79633	FAT4	HP:0000293	Full cheeks	1/1	OMIM:615546
79633	FAT4	HP:0000260	Wide anterior fontanel	-	OMIM:615546
79633	FAT4	HP:0000272	Malar flattening	-	OMIM:615546
79633	FAT4	HP:0002825	Caudal appendage	HP:0040283	ORPHA:314679
79633	FAT4	HP:0030084	Clinodactyly	-	OMIM:615546
79633	FAT4	HP:0002808	Kyphosis	2/5	OMIM:153400
79633	FAT4	HP:0000239	Large fontanelles	HP:0040282	ORPHA:314679
79633	FAT4	HP:0000252	Microcephaly	HP:0040283	ORPHA:314679
79633	FAT4	HP:0000218	High palate	-	OMIM:615546
79633	FAT4	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:2136
79633	FAT4	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:314679
79633	FAT4	HP:0001545	Anteriorly placed anus	1/1	OMIM:615546
79633	FAT4	HP:0001530	Mild postnatal growth retardation	HP:0040281	ORPHA:2136
79633	FAT4	HP:0001541	Ascites	HP:0040282	ORPHA:2136
79633	FAT4	HP:0000204	Cleft upper lip	-	OMIM:153400
79633	FAT4	HP:0030043	Hip subluxation	1/1	OMIM:615546
79633	FAT4	HP:0001510	Growth delay	5/9	OMIM:616006
79633	FAT4	HP:0001510	Growth delay	-	OMIM:615546
79633	FAT4	HP:0011069	Supernumerary tooth	HP:0040281	ORPHA:2136
79633	FAT4	HP:0012385	Camptodactyly	5/8	OMIM:616006
79633	FAT4	HP:0012385	Camptodactyly	HP:0040281	ORPHA:314679
79633	FAT4	HP:0012368	Flat face	-	OMIM:616006
79633	FAT4	HP:0012368	Flat face	HP:0040281	ORPHA:2136
79633	FAT4	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:2136
79633	FAT4	HP:0006521	Pulmonary lymphangiectasia	-	OMIM:616006
79633	FAT4	HP:0006521	Pulmonary lymphangiectasia	HP:0040283	ORPHA:2136
79633	FAT4	HP:0005183	Pericardial lymphangiectasia	-	OMIM:616006
79633	FAT4	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:2136
79633	FAT4	HP:0006482	Abnormal dental morphology	HP:0040281	ORPHA:2136
79633	FAT4	HP:0000365	Hearing impairment	2/9	OMIM:616006
79633	FAT4	HP:0000365	Hearing impairment	3/3	OMIM:615546
79633	FAT4	HP:0001698	Pericardial effusion	HP:0040283	ORPHA:2136
79633	FAT4	HP:0000369	Low-set ears	HP:0040281	ORPHA:2136
79633	FAT4	HP:0000341	Narrow forehead	-	OMIM:615546
79633	FAT4	HP:0000337	Broad forehead	HP:0040282	ORPHA:2136
79633	FAT4	HP:0000347	Micrognathia	HP:0040282	ORPHA:314679
79633	FAT4	HP:0000347	Micrognathia	2/5	OMIM:153400
79633	FAT4	HP:0000347	Micrognathia	-	OMIM:615546
79633	FAT4	HP:0000316	Hypertelorism	HP:0040283	ORPHA:314679
79633	FAT4	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2136
79633	FAT4	HP:0000316	Hypertelorism	9/9	OMIM:616006
79633	FAT4	HP:0000316	Hypertelorism	-	OMIM:615546
79633	FAT4	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
79633	FAT4	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:314679
79633	FAT4	HP:0000327	Hypoplasia of the maxilla	-	OMIM:615546
79633	FAT4	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:314679
79633	FAT4	HP:0000322	Short philtrum	HP:0040283	ORPHA:2136
79633	FAT4	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
79633	FAT4	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:314679
79633	FAT4	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
79633	FAT4	HP:0000407	Sensorineural hearing impairment	-	OMIM:615546
79633	FAT4	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:2136
79633	FAT4	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:314679
79633	FAT4	HP:0000405	Conductive hearing impairment	-	OMIM:615546
79633	FAT4	HP:0000402	Stenosis of the external auditory canal	1/1	OMIM:615546
79633	FAT4	HP:0005280	Depressed nasal bridge	8/9	OMIM:616006
79633	FAT4	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:2136
79633	FAT4	HP:0005280	Depressed nasal bridge	1/1	OMIM:615546
79633	FAT4	HP:0000476	Cystic hygroma	2/43	OMIM:153400
79633	FAT4	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
79633	FAT4	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
79633	FAT4	HP:0001789	Hydrops fetalis	HP:0040283	ORPHA:2136
79633	FAT4	HP:0000465	Webbed neck	6/43	OMIM:153400
79633	FAT4	HP:0000413	Atresia of the external auditory canal	-	OMIM:615546
79633	FAT4	HP:0001744	Splenomegaly	HP:0040282	ORPHA:2136
79633	FAT4	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:2136
79633	FAT4	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:314679
79633	FAT4	HP:0001762	Talipes equinovarus	1/1	OMIM:615546
79633	FAT4	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:314679
79633	FAT4	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:2136
79633	FAT4	HP:0000431	Wide nasal bridge	-	OMIM:615546
79633	FAT4	HP:0000509	Conjunctivitis	-	OMIM:153400
79633	FAT4	HP:0000508	Ptosis	2/39	OMIM:153400
79633	FAT4	HP:0000508	Ptosis	-	OMIM:615546
79633	FAT4	HP:0000501	Glaucoma	HP:0040282	ORPHA:2136
79633	FAT4	HP:0000581	Blepharophimosis	6/9	OMIM:616006
79633	FAT4	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:314679
79633	FAT4	HP:0000581	Blepharophimosis	-	OMIM:615546
79633	FAT4	HP:0011220	Prominent forehead	1/1	OMIM:615546
79633	FAT4	HP:0001888	Decreased total lymphocyte count	HP:0040281	ORPHA:2136
79633	FAT4	HP:0000568	Microphthalmia	1/6	OMIM:153400
79639	TMEM53	HP:0001138	Optic neuropathy	1/5	OMIM:619727
79639	TMEM53	HP:0001263	Global developmental delay	1/5	OMIM:619727
79639	TMEM53	HP:0100865	Broad ischia	5/5	OMIM:619727
79639	TMEM53	HP:0410280	Pediatric onset	4/5	OMIM:619727
79639	TMEM53	HP:0002684	Thickened calvaria	5/5	OMIM:619727
79639	TMEM53	HP:0002694	Sclerosis of skull base	4/5	OMIM:619727
79639	TMEM53	HP:0000007	Autosomal recessive inheritance	-	OMIM:619727
79639	TMEM53	HP:0000179	Thick lower lip vermilion	1/5	OMIM:619727
79639	TMEM53	HP:0002753	Thin bony cortex	4/5	OMIM:619727
79639	TMEM53	HP:0002057	Prominent glabella	1/5	OMIM:619727
79639	TMEM53	HP:0011939	3-4 finger cutaneous syndactyly	1/5	OMIM:619727
79639	TMEM53	HP:0100704	Cerebral visual impairment	1/5	OMIM:619727
79639	TMEM53	HP:0003621	Juvenile onset	1/5	OMIM:619727
79639	TMEM53	HP:0004279	Short palm	1/5	OMIM:619727
79639	TMEM53	HP:0000648	Optic atrophy	1/5	OMIM:619727
79639	TMEM53	HP:0000667	Phthisis bulbi	1/5	OMIM:619727
79639	TMEM53	HP:0004322	Short stature	5/5	OMIM:619727
79639	TMEM53	HP:0000771	Gynecomastia	1/5	OMIM:619727
79639	TMEM53	HP:0011499	Mydriasis	1/5	OMIM:619727
79639	TMEM53	HP:0000926	Platyspondyly	5/5	OMIM:619727
79639	TMEM53	HP:0000885	Broad ribs	5/5	OMIM:619727
79639	TMEM53	HP:0100252	Diaphyseal dysplasia	1/5	OMIM:619727
79639	TMEM53	HP:0100255	Metaphyseal dysplasia	4/5	OMIM:619727
79639	TMEM53	HP:0000286	Epicanthus	2/5	OMIM:619727
79639	TMEM53	HP:0000280	Coarse facial features	1/5	OMIM:619727
79639	TMEM53	HP:0000256	Macrocephaly	4/10	OMIM:619727
79639	TMEM53	HP:0000268	Dolichocephaly	4/5	OMIM:619727
79639	TMEM53	HP:0006429	Broad femoral neck	5/5	OMIM:619727
79639	TMEM53	HP:0000215	Thick upper lip vermilion	1/5	OMIM:619727
79639	TMEM53	HP:0007807	Optic nerve compression	1/5	OMIM:619727
79639	TMEM53	HP:0000365	Hearing impairment	1/5	OMIM:619727
79639	TMEM53	HP:0000343	Long philtrum	1/5	OMIM:619727
79639	TMEM53	HP:0000316	Hypertelorism	4/5	OMIM:619727
79639	TMEM53	HP:0001629	Ventricular septal defect	1/5	OMIM:619727
79639	TMEM53	HP:0030320	Increased intervertebral space	1/5	OMIM:619727
79639	TMEM53	HP:0000486	Strabismus	1/5	OMIM:619727
79639	TMEM53	HP:0000463	Anteverted nares	2/5	OMIM:619727
79639	TMEM53	HP:0000431	Wide nasal bridge	1/5	OMIM:619727
79639	TMEM53	HP:0000520	Proptosis	1/5	OMIM:619727
79639	TMEM53	HP:0000505	Visual impairment	5/5	OMIM:619727
79639	TMEM53	HP:0011220	Prominent forehead	3/3	OMIM:619727
79641	ROGDI	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:1946
79641	ROGDI	HP:0010864	Intellectual disability, severe	-	OMIM:226750
79641	ROGDI	HP:0001268	Mental deterioration	HP:0040281	ORPHA:1946
79641	ROGDI	HP:0001250	Seizure	HP:0040281	ORPHA:1946
79641	ROGDI	HP:0001250	Seizure	4/4	OMIM:226750
79641	ROGDI	HP:0001251	Ataxia	-	OMIM:226750
79641	ROGDI	HP:0001249	Intellectual disability	-	OMIM:226750
79641	ROGDI	HP:0001263	Global developmental delay	HP:0040283	OMIM:226750
79641	ROGDI	HP:0001257	Spasticity	HP:0040281	ORPHA:1946
79641	ROGDI	HP:0001257	Spasticity	-	OMIM:226750
79641	ROGDI	HP:0007359	Focal-onset seizure	1/4	OMIM:226750
79641	ROGDI	HP:0002521	Hypsarrhythmia	-	OMIM:226750
79641	ROGDI	HP:0000007	Autosomal recessive inheritance	-	OMIM:226750
79641	ROGDI	HP:0001321	Cerebellar hypoplasia	-	OMIM:226750
79641	ROGDI	HP:0006297	Enamel hypoplasia	-	OMIM:226750
79641	ROGDI	HP:0006286	Yellow-brown discoloration of the teeth	HP:0040281	ORPHA:1946
79641	ROGDI	HP:0002069	Bilateral tonic-clonic seizure	1/4	OMIM:226750
79641	ROGDI	HP:0002059	Cerebral atrophy	-	OMIM:226750
79641	ROGDI	HP:0002119	Ventriculomegaly	-	OMIM:226750
79641	ROGDI	HP:0200134	Epileptic encephalopathy	-	OMIM:226750
79641	ROGDI	HP:0002376	Developmental regression	HP:0040281	ORPHA:1946
79641	ROGDI	HP:0002376	Developmental regression	3/4	OMIM:226750
79641	ROGDI	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1946
79641	ROGDI	HP:0000682	Abnormal dental enamel morphology	HP:0040281	ORPHA:1946
79641	ROGDI	HP:0004322	Short stature	HP:0040283	ORPHA:1946
79641	ROGDI	HP:0031936	Delayed ability to walk	4/4	OMIM:226750
79641	ROGDI	HP:0000750	Delayed speech and language development	4/4	OMIM:226750
79641	ROGDI	HP:0000726	Dementia	HP:0040281	ORPHA:1946
79641	ROGDI	HP:0000726	Dementia	-	OMIM:226750
79641	ROGDI	HP:0000705	Amelogenesis imperfecta	-	OMIM:226750
79641	ROGDI	HP:0000705	Amelogenesis imperfecta	HP:0040281	ORPHA:1946
79641	ROGDI	HP:0000966	Hypohidrosis	HP:0040282	ORPHA:1946
79641	ROGDI	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:1946
79641	ROGDI	HP:0000252	Microcephaly	1/4	OMIM:226750
79641	ROGDI	HP:0011073	Abnormality of dental color	HP:0040281	ORPHA:1946
79641	ROGDI	HP:0032794	Myoclonic seizure	1/4	OMIM:226750
79644	SRD5A3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
79644	SRD5A3	HP:0010864	Intellectual disability, severe	3/3	OMIM:612713
79644	SRD5A3	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:324737
79644	SRD5A3	HP:0001270	Motor delay	7/7	OMIM:612379
79644	SRD5A3	HP:0001270	Motor delay	3/3	OMIM:612713
79644	SRD5A3	HP:0001250	Seizure	HP:0040283	ORPHA:324737
79644	SRD5A3	HP:0001250	Seizure	0/3	OMIM:612713
79644	SRD5A3	HP:0001252	Hypotonia	7/7	OMIM:612379
79644	SRD5A3	HP:0001251	Ataxia	HP:0040282	ORPHA:324737
79644	SRD5A3	HP:0001249	Intellectual disability	HP:0040281	ORPHA:324737
79644	SRD5A3	HP:0001249	Intellectual disability	7/7	OMIM:612379
79644	SRD5A3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:324737
79644	SRD5A3	HP:0001263	Global developmental delay	4/4	OMIM:612379
79644	SRD5A3	HP:0001257	Spasticity	2/7	OMIM:612379
79644	SRD5A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
79644	SRD5A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:612713
79644	SRD5A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:612379
79644	SRD5A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
79644	SRD5A3	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:612379
79644	SRD5A3	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:324737
79644	SRD5A3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
79644	SRD5A3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
79644	SRD5A3	HP:0008947	Floppy infant	HP:0040282	ORPHA:324737
79644	SRD5A3	HP:0002015	Dysphagia	2/7	OMIM:612379
79644	SRD5A3	HP:0002126	Polymicrogyria	-	OMIM:612379
79644	SRD5A3	HP:0003593	Infantile onset	1/7	OMIM:612379
79644	SRD5A3	HP:0003593	Infantile onset	1/3	OMIM:612713
79644	SRD5A3	HP:0003577	Congenital onset	6/7	OMIM:612379
79644	SRD5A3	HP:0003577	Congenital onset	2/3	OMIM:612713
79644	SRD5A3	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040283	ORPHA:324737
79644	SRD5A3	HP:0001000	Abnormality of skin pigmentation	-	OMIM:612379
79644	SRD5A3	HP:0003642	Type I transferrin isoform profile	HP:0040281	ORPHA:324737
79644	SRD5A3	HP:0003642	Type I transferrin isoform profile	-	OMIM:612379
79644	SRD5A3	HP:0003621	Juvenile onset	8/19	OMIM:180100
79644	SRD5A3	HP:0005585	Spotty hyperpigmentation	HP:0040283	ORPHA:324737
79644	SRD5A3	HP:0000639	Nystagmus	7/7	OMIM:612379
79644	SRD5A3	HP:0000639	Nystagmus	HP:0040282	ORPHA:324737
79644	SRD5A3	HP:0001976	Reduced antithrombin III activity	HP:0040283	ORPHA:324737
79644	SRD5A3	HP:0001976	Reduced antithrombin III activity	5/5	OMIM:612379
79644	SRD5A3	HP:0000648	Optic atrophy	HP:0040281	ORPHA:324737
79644	SRD5A3	HP:0000648	Optic atrophy	5/7	OMIM:612379
79644	SRD5A3	HP:0000612	Iris coloboma	2/3	OMIM:612713
79644	SRD5A3	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:324737
79644	SRD5A3	HP:0001935	Microcytic anemia	HP:0040282	ORPHA:324737
79644	SRD5A3	HP:0001935	Microcytic anemia	5/7	OMIM:612379
79644	SRD5A3	HP:0000677	Oligodontia	-	ORPHA:324737
79644	SRD5A3	HP:0000662	Nyctalopia	26/28	OMIM:180100
79644	SRD5A3	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:324737
79644	SRD5A3	HP:0004322	Short stature	3/3	OMIM:612713
79644	SRD5A3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:324737
79644	SRD5A3	HP:0011463	Childhood onset	3/19	OMIM:180100
79644	SRD5A3	HP:0011462	Young adult onset	8/19	OMIM:180100
79644	SRD5A3	HP:0003186	Inverted nipples	2/7	OMIM:612379
79644	SRD5A3	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:324737
79644	SRD5A3	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:324737
79644	SRD5A3	HP:0034391	Elbow contracture	3/3	OMIM:612713
79644	SRD5A3	HP:0000998	Hypertrichosis	-	OMIM:612379
79644	SRD5A3	HP:0000973	Cutis laxa	-	OMIM:612379
79644	SRD5A3	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:324737
79644	SRD5A3	HP:0000958	Dry skin	5/7	OMIM:612379
79644	SRD5A3	HP:0000964	Eczematoid dermatitis	5/7	OMIM:612379
79644	SRD5A3	HP:0000962	Hyperkeratosis	-	OMIM:612379
79644	SRD5A3	HP:0008064	Ichthyosis	4/7	OMIM:612379
79644	SRD5A3	HP:0008064	Ichthyosis	HP:0040282	ORPHA:324737
79644	SRD5A3	HP:0001595	Abnormal hair morphology	-	ORPHA:324737
79644	SRD5A3	HP:0005107	Abnormal sacrum morphology	HP:0040283	ORPHA:324737
79644	SRD5A3	HP:0007766	Optic disc hypoplasia	HP:0040282	ORPHA:324737
79644	SRD5A3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
79644	SRD5A3	HP:0002808	Kyphosis	HP:0040283	ORPHA:324737
79644	SRD5A3	HP:0006380	Knee flexion contracture	3/3	OMIM:612713
79644	SRD5A3	HP:0000248	Brachycephaly	-	OMIM:612379
79644	SRD5A3	HP:0001508	Failure to thrive	2/7	OMIM:612379
79644	SRD5A3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
79644	SRD5A3	HP:0002942	Thoracic kyphosis	3/3	OMIM:612713
79644	SRD5A3	HP:0002910	Elevated circulating hepatic transaminase concentration	6/6	OMIM:612379
79644	SRD5A3	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:324737
79644	SRD5A3	HP:0000365	Hearing impairment	-	ORPHA:324737
79644	SRD5A3	HP:0000369	Low-set ears	-	OMIM:612379
79644	SRD5A3	HP:0000316	Hypertelorism	-	OMIM:612379
79644	SRD5A3	HP:0000329	Facial hemangioma	1/3	OMIM:612713
79644	SRD5A3	HP:0005280	Depressed nasal bridge	-	OMIM:612379
79644	SRD5A3	HP:0012471	Thick vermilion border	3/3	OMIM:612713
79644	SRD5A3	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:324737
79644	SRD5A3	HP:0000414	Bulbous nose	3/3	OMIM:612713
79644	SRD5A3	HP:0000431	Wide nasal bridge	3/3	OMIM:612713
79644	SRD5A3	HP:0000518	Cataract	3/3	OMIM:612713
79644	SRD5A3	HP:0000518	Cataract	HP:0040282	ORPHA:324737
79644	SRD5A3	HP:0000518	Cataract	2/7	OMIM:612379
79644	SRD5A3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
79644	SRD5A3	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:324737
79644	SRD5A3	HP:0000575	Scotoma	5/18	OMIM:180100
79644	SRD5A3	HP:0000589	Coloboma	4/4	OMIM:612379
79644	SRD5A3	HP:0000589	Coloboma	HP:0040282	ORPHA:324737
79644	SRD5A3	HP:0000572	Visual loss	7/7	OMIM:612379
79644	SRD5A3	HP:0000572	Visual loss	HP:0040282	ORPHA:324737
79644	SRD5A3	HP:0000568	Microphthalmia	2/7	OMIM:612379
79644	SRD5A3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
79644	SRD5A3	HP:0000545	Myopia	-	OMIM:180100
79645	CLXN	HP:0012020	Right aortic arch	1/3	OMIM:620642
79645	CLXN	HP:0000007	Autosomal recessive inheritance	-	OMIM:620642
79645	CLXN	HP:0001320	Cerebellar vermis hypoplasia	1/3	OMIM:620642
79645	CLXN	HP:0006270	Hypoplastic spleen	1/3	OMIM:620642
79645	CLXN	HP:0003363	Abdominal situs inversus	2/3	OMIM:620642
79645	CLXN	HP:0002092	Pulmonary arterial hypertension	2/3	OMIM:620642
79645	CLXN	HP:0002093	Respiratory insufficiency	2/3	OMIM:620642
79645	CLXN	HP:0002198	Dilated fourth ventricle	1/3	OMIM:620642
79645	CLXN	HP:0003593	Infantile onset	1/3	OMIM:620642
79645	CLXN	HP:0003623	Neonatal onset	1/3	OMIM:620642
79645	CLXN	HP:0030674	Antenatal onset	1/3	OMIM:620642
79645	CLXN	HP:0034196	Ductus venosus agenesis	1/3	OMIM:620642
79645	CLXN	HP:0011565	Common atrium	1/3	OMIM:620642
79645	CLXN	HP:0011682	Perimembranous ventricular septal defect	1/3	OMIM:620642
79645	CLXN	HP:0006532	Recurrent pneumonia	2/3	OMIM:620642
79645	CLXN	HP:0001696	Situs inversus totalis	1/3	OMIM:620642
79645	CLXN	HP:0001655	Patent foramen ovale	1/3	OMIM:620642
79645	CLXN	HP:0001640	Cardiomegaly	1/3	OMIM:620642
79645	CLXN	HP:0005301	Persistent left superior vena cava	1/3	OMIM:620642
79645	CLXN	HP:0011109	Chronic sinusitis	1/3	OMIM:620642
79645	CLXN	HP:0001748	Polysplenia	1/3	OMIM:620642
79648	MCPH1	HP:0002472	Small cerebral cortex	-	OMIM:251200
79648	MCPH1	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
79648	MCPH1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
79648	MCPH1	HP:0001250	Seizure	0/7	OMIM:251200
79648	MCPH1	HP:0001249	Intellectual disability	7/7	OMIM:251200
79648	MCPH1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
79648	MCPH1	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
79648	MCPH1	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
79648	MCPH1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
79648	MCPH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:251200
79648	MCPH1	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
79648	MCPH1	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
79648	MCPH1	HP:0003451	Increased rate of premature chromosome condensation	-	OMIM:251200
79648	MCPH1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
79648	MCPH1	HP:0003577	Congenital onset	7/7	OMIM:251200
79648	MCPH1	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
79648	MCPH1	HP:0004322	Short stature	HP:0040283	OMIM:251200
79648	MCPH1	HP:0004322	Short stature	HP:0040281	ORPHA:2512
79648	MCPH1	HP:0011451	Primary microcephaly	7/7	OMIM:251200
79648	MCPH1	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
79648	MCPH1	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
79648	MCPH1	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
79648	MCPH1	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
79648	MCPH1	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
79648	MCPH1	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
79650	USB1	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:1775
79650	USB1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1775
79650	USB1	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1775
79650	USB1	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1775
79650	USB1	HP:0008661	Urethral stenosis	HP:0040282	ORPHA:1775
79650	USB1	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:1775
79650	USB1	HP:0001399	Hepatic failure	HP:0040283	ORPHA:1775
79650	USB1	HP:0001394	Cirrhosis	HP:0040283	ORPHA:1775
79650	USB1	HP:0001387	Joint stiffness	1/3	OMIM:604173
79650	USB1	HP:0001382	Joint hypermobility	2/3	OMIM:604173
79650	USB1	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:1775
79650	USB1	HP:0007556	Plantar hyperkeratosis	3/3	OMIM:604173
79650	USB1	HP:0002664	Neoplasm	HP:0040282	ORPHA:1775
79650	USB1	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040282	ORPHA:1775
79650	USB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:604173
79650	USB1	HP:0002665	Lymphoma	HP:0040283	ORPHA:1775
79650	USB1	HP:0002650	Scoliosis	HP:0040283	ORPHA:1775
79650	USB1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:1775
79650	USB1	HP:0025435	Increased circulating lactate dehydrogenase concentration	5/6	OMIM:604173
79650	USB1	HP:0007588	Reticular hyperpigmentation	1/3	OMIM:604173
79650	USB1	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:1775
79650	USB1	HP:0002745	Oral leukoplakia	HP:0040281	ORPHA:1775
79650	USB1	HP:0002024	Malabsorption	HP:0040282	ORPHA:1775
79650	USB1	HP:0002007	Frontal bossing	1/3	OMIM:604173
79650	USB1	HP:0011800	Midface retrusion	5/6	OMIM:604173
79650	USB1	HP:0010450	Esophageal stenosis	HP:0040282	ORPHA:1775
79650	USB1	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:1775
79650	USB1	HP:0002162	Low posterior hairline	1/3	OMIM:604173
79650	USB1	HP:0003593	Infantile onset	9/9	OMIM:604173
79650	USB1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:1775
79650	USB1	HP:0002216	Premature graying of hair	HP:0040283	ORPHA:1775
79650	USB1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1775
79650	USB1	HP:0008404	Nail dystrophy	1/3	OMIM:604173
79650	USB1	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:1775
79650	USB1	HP:0010624	Aplastic/hypoplastic toenail	HP:0040282	ORPHA:1775
79650	USB1	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:1775
79650	USB1	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:1775
79650	USB1	HP:0001029	Poikiloderma	9/9	OMIM:604173
79650	USB1	HP:0001009	Telangiectasia	1/3	OMIM:604173
79650	USB1	HP:0200037	Skin vesicle	HP:0040283	ORPHA:1775
79650	USB1	HP:0100670	Coarse metaphyseal trabecularization	HP:0040282	ORPHA:1775
79650	USB1	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:1775
79650	USB1	HP:0200042	Skin ulcer	HP:0040282	ORPHA:1775
79650	USB1	HP:0005528	Bone marrow hypocellularity	HP:0040282	ORPHA:1775
79650	USB1	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:1775
79650	USB1	HP:0000600	Abnormality of the pharynx	HP:0040282	ORPHA:1775
79650	USB1	HP:0001903	Anemia	HP:0040281	ORPHA:1775
79650	USB1	HP:0011364	White hair	HP:0040283	ORPHA:1775
79650	USB1	HP:0000679	Taurodontia	HP:0040282	ORPHA:1775
79650	USB1	HP:0000670	Carious teeth	3/3	OMIM:604173
79650	USB1	HP:0000670	Carious teeth	HP:0040282	ORPHA:1775
79650	USB1	HP:0000668	Hypodontia	HP:0040282	ORPHA:1775
79650	USB1	HP:0004322	Short stature	4/6	OMIM:604173
79650	USB1	HP:0004322	Short stature	HP:0040282	ORPHA:1775
79650	USB1	HP:0004334	Dermal atrophy	1/3	OMIM:604173
79650	USB1	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:1775
79650	USB1	HP:0012733	Macule	HP:0040281	ORPHA:1775
79650	USB1	HP:0000704	Periodontitis	HP:0040282	ORPHA:1775
79650	USB1	HP:0003196	Short nose	1/3	OMIM:604173
79650	USB1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1775
79650	USB1	HP:0003236	Elevated circulating creatine kinase concentration	5/6	OMIM:604173
79650	USB1	HP:0045075	Sparse eyebrow	1/3	OMIM:604173
79650	USB1	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1775
79650	USB1	HP:0000988	Skin rash	3/3	OMIM:604173
79650	USB1	HP:0000982	Palmoplantar keratoderma	3/3	OMIM:604173
79650	USB1	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:1775
79650	USB1	HP:0000969	Edema	1/3	OMIM:604173
79650	USB1	HP:0000962	Hyperkeratosis	1/3	OMIM:604173
79650	USB1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:1775
79650	USB1	HP:0008070	Sparse hair	HP:0040282	ORPHA:1775
79650	USB1	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1775
79650	USB1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:1775
79650	USB1	HP:0000278	Retrognathia	1/3	OMIM:604173
79650	USB1	HP:0001596	Alopecia	HP:0040283	ORPHA:1775
79650	USB1	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:1775
79650	USB1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1775
79650	USB1	HP:0001510	Growth delay	1/3	OMIM:604173
79650	USB1	HP:0006538	Recurrent bronchopulmonary infections	3/3	OMIM:604173
79650	USB1	HP:0006532	Recurrent pneumonia	4/6	OMIM:604173
79650	USB1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1775
79650	USB1	HP:0000343	Long philtrum	1/3	OMIM:604173
79650	USB1	HP:0000347	Micrognathia	1/3	OMIM:604173
79650	USB1	HP:0000316	Hypertelorism	2/3	OMIM:604173
79650	USB1	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:1775
79650	USB1	HP:0000499	Abnormal eyelash morphology	HP:0040283	ORPHA:1775
79650	USB1	HP:0000498	Blepharitis	-	OMIM:604173
79650	USB1	HP:0000498	Blepharitis	HP:0040283	ORPHA:1775
79650	USB1	HP:0005374	Cellular immunodeficiency	HP:0040282	ORPHA:1775
79650	USB1	HP:0005338	Sparse lateral eyebrow	2/3	OMIM:604173
79650	USB1	HP:0000403	Recurrent otitis media	4/6	OMIM:604173
79650	USB1	HP:0005280	Depressed nasal bridge	1/3	OMIM:604173
79650	USB1	HP:0011108	Recurrent sinusitis	4/6	OMIM:604173
79650	USB1	HP:0001744	Splenomegaly	5/6	OMIM:604173
79650	USB1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1775
79650	USB1	HP:0000430	Underdeveloped nasal alae	1/3	OMIM:604173
79650	USB1	HP:0000518	Cataract	HP:0040283	ORPHA:1775
79650	USB1	HP:0000509	Conjunctivitis	-	OMIM:604173
79650	USB1	HP:0000579	Nasolacrimal duct obstruction	3/3	OMIM:604173
79650	USB1	HP:0000534	Abnormal eyebrow morphology	HP:0040283	ORPHA:1775
79650	USB1	HP:0001882	Decreased total leukocyte count	3/3	OMIM:604173
79650	USB1	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:1775
79650	USB1	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:1775
79650	USB1	HP:0001875	Decreased total neutrophil count	19/19	OMIM:604173
79651	RHBDF2	HP:0007447	Diffuse palmoplantar hyperkeratosis	-	OMIM:148500
79651	RHBDF2	HP:0025270	Abnormal esophagus physiology	HP:0040282	ORPHA:2198
79651	RHBDF2	HP:0007502	Follicular hyperkeratosis	-	OMIM:148500
79651	RHBDF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:148500
79651	RHBDF2	HP:0002745	Oral leukoplakia	-	OMIM:148500
79651	RHBDF2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2198
79651	RHBDF2	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:2198
79651	RHBDF2	HP:0002033	Poor suck	HP:0040282	ORPHA:2198
79651	RHBDF2	HP:0002015	Dysphagia	HP:0040282	ORPHA:2198
79651	RHBDF2	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:2198
79651	RHBDF2	HP:0002239	Gastrointestinal hemorrhage	HP:0040281	ORPHA:2198
79651	RHBDF2	HP:0002250	Abnormal large intestine morphology	HP:0040281	ORPHA:2198
79651	RHBDF2	HP:0100751	Esophageal neoplasm	HP:0040281	ORPHA:2198
79651	RHBDF2	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:2198
79651	RHBDF2	HP:0001036	Parakeratosis	-	OMIM:148500
79651	RHBDF2	HP:0003621	Juvenile onset	-	OMIM:148500
79651	RHBDF2	HP:0004396	Poor appetite	HP:0040282	ORPHA:2198
79651	RHBDF2	HP:0011459	Esophageal carcinoma	-	OMIM:148500
79651	RHBDF2	HP:0045026	Abnormal mediastinum morphology	HP:0040282	ORPHA:2198
79651	RHBDF2	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:2198
79651	RHBDF2	HP:0001541	Ascites	HP:0040282	ORPHA:2198
79651	RHBDF2	HP:0001824	Weight loss	HP:0040282	ORPHA:2198
79659	DYNC2H1	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:93271
79659	DYNC2H1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:474
79659	DYNC2H1	HP:0001156	Brachydactyly	-	OMIM:613091
79659	DYNC2H1	HP:0001162	Postaxial hand polydactyly	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:474
79659	DYNC2H1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
79659	DYNC2H1	HP:0003762	Uterus didelphys	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
79659	DYNC2H1	HP:0001293	Cranial nerve compression	-	OMIM:131300
79659	DYNC2H1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93271
79659	DYNC2H1	HP:0001274	Agenesis of corpus callosum	HP:0040283	OMIM:613091
79659	DYNC2H1	HP:0001252	Hypotonia	2/7	OMIM:615777
79659	DYNC2H1	HP:0001249	Intellectual disability	5/7	OMIM:615777
79659	DYNC2H1	HP:0001263	Global developmental delay	-	OMIM:615777
79659	DYNC2H1	HP:0002566	Intestinal malrotation	HP:0040283	OMIM:613091
79659	DYNC2H1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0008716	Urethrovaginal fistula	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0010984	Digenic inheritance	-	OMIM:613091
79659	DYNC2H1	HP:0002515	Waddling gait	54/102	OMIM:131300
79659	DYNC2H1	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:474
79659	DYNC2H1	HP:0000090	Nephronophthisis	HP:0040283	ORPHA:474
79659	DYNC2H1	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0000062	Ambiguous genitalia	HP:0040283	OMIM:613091
79659	DYNC2H1	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:474
79659	DYNC2H1	HP:0000054	Micropenis	HP:0040283	OMIM:613091
79659	DYNC2H1	HP:0001382	Joint hypermobility	-	OMIM:615777
79659	DYNC2H1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
79659	DYNC2H1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
79659	DYNC2H1	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:93271
79659	DYNC2H1	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:474
79659	DYNC2H1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
79659	DYNC2H1	HP:0001324	Muscle weakness	40/96	OMIM:131300
79659	DYNC2H1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
79659	DYNC2H1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
79659	DYNC2H1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
79659	DYNC2H1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613091
79659	DYNC2H1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
79659	DYNC2H1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
79659	DYNC2H1	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:93271
79659	DYNC2H1	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:474
79659	DYNC2H1	HP:0002650	Scoliosis	-	OMIM:613091
79659	DYNC2H1	HP:0002650	Scoliosis	12/14	OMIM:131300
79659	DYNC2H1	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:93271
79659	DYNC2H1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
79659	DYNC2H1	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:474
79659	DYNC2H1	HP:0002612	Congenital hepatic fibrosis	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
79659	DYNC2H1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
79659	DYNC2H1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
79659	DYNC2H1	HP:0000175	Cleft palate	HP:0040283	OMIM:613091
79659	DYNC2H1	HP:0000175	Cleft palate	2/7	OMIM:615777
79659	DYNC2H1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
79659	DYNC2H1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
79659	DYNC2H1	HP:0000113	Polycystic kidney dysplasia	-	OMIM:613091
79659	DYNC2H1	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0000110	Renal dysplasia	-	OMIM:613091
79659	DYNC2H1	HP:0000112	Nephropathy	HP:0040283	ORPHA:474
79659	DYNC2H1	HP:0000107	Renal cyst	HP:0040283	ORPHA:93271
79659	DYNC2H1	HP:0000105	Enlarged kidney	-	OMIM:613091
79659	DYNC2H1	HP:0002023	Anal atresia	HP:0040283	ORPHA:93271
79659	DYNC2H1	HP:0002023	Anal atresia	HP:0040283	OMIM:613091
79659	DYNC2H1	HP:0002032	Esophageal atresia	HP:0040283	ORPHA:93271
79659	DYNC2H1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0002006	Tessier cleft	HP:0040283	ORPHA:93271
79659	DYNC2H1	HP:0011802	Hamartoma of tongue	HP:0040283	OMIM:613091
79659	DYNC2H1	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:93271
79659	DYNC2H1	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:93271
79659	DYNC2H1	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:474
79659	DYNC2H1	HP:0003388	Easy fatigability	36/76	OMIM:131300
79659	DYNC2H1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
79659	DYNC2H1	HP:0010454	Acetabular spurs	-	OMIM:613091
79659	DYNC2H1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:93271
79659	DYNC2H1	HP:0011927	Short digit	-	OMIM:613091
79659	DYNC2H1	HP:0010564	Bifid epiglottis	HP:0040283	ORPHA:93271
79659	DYNC2H1	HP:0009556	Absent tibia	HP:0040283	OMIM:613091
79659	DYNC2H1	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:474
79659	DYNC2H1	HP:0010579	Cone-shaped epiphysis	-	OMIM:613091
79659	DYNC2H1	HP:0003510	Severe short stature	7/7	OMIM:615777
79659	DYNC2H1	HP:0002350	Cerebellar cyst	HP:0040283	OMIM:613091
79659	DYNC2H1	HP:0002315	Headache	-	OMIM:131300
79659	DYNC2H1	HP:0004976	Knee dislocation	6/7	OMIM:615777
79659	DYNC2H1	HP:0009803	Short phalanx of finger	-	OMIM:615777
79659	DYNC2H1	HP:0009763	Limb pain	63/92	OMIM:131300
79659	DYNC2H1	HP:0003621	Juvenile onset	8/19	OMIM:180100
79659	DYNC2H1	HP:0003621	Juvenile onset	-	OMIM:131300
79659	DYNC2H1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
79659	DYNC2H1	HP:0004279	Short palm	HP:0040281	ORPHA:93271
79659	DYNC2H1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
79659	DYNC2H1	HP:6001056	Out-toeing	-	OMIM:131300
79659	DYNC2H1	HP:0000651	Diplopia	-	OMIM:131300
79659	DYNC2H1	HP:0001956	Truncal obesity	2/7	OMIM:615777
79659	DYNC2H1	HP:0001903	Anemia	HP:0040283	OMIM:131300
79659	DYNC2H1	HP:0010049	Short metacarpal	-	OMIM:615777
79659	DYNC2H1	HP:0000678	Dental crowding	-	OMIM:615777
79659	DYNC2H1	HP:0000662	Nyctalopia	26/28	OMIM:180100
79659	DYNC2H1	HP:0000670	Carious teeth	-	OMIM:131300
79659	DYNC2H1	HP:0011304	Broad thumb	2/7	OMIM:615777
79659	DYNC2H1	HP:0000668	Hypodontia	-	OMIM:615777
79659	DYNC2H1	HP:0000664	Synophrys	-	OMIM:615777
79659	DYNC2H1	HP:0004322	Short stature	-	OMIM:613091
79659	DYNC2H1	HP:0004322	Short stature	HP:0040283	ORPHA:474
79659	DYNC2H1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0004397	Ectopic anus	HP:0040283	ORPHA:93271
79659	DYNC2H1	HP:0004396	Poor appetite	-	OMIM:131300
79659	DYNC2H1	HP:0003038	Fibular hypoplasia	HP:0040283	OMIM:613091
79659	DYNC2H1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
79659	DYNC2H1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
79659	DYNC2H1	HP:0003016	Metaphyseal widening	-	OMIM:613091
79659	DYNC2H1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
79659	DYNC2H1	HP:0003026	Short long bone	7/7	OMIM:615777
79659	DYNC2H1	HP:0003026	Short long bone	-	OMIM:613091
79659	DYNC2H1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
79659	DYNC2H1	HP:0003022	Hypoplasia of the ulna	HP:0040283	OMIM:613091
79659	DYNC2H1	HP:0009106	Abnormal pelvis bone ossification	HP:0040281	ORPHA:93271
79659	DYNC2H1	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:474
79659	DYNC2H1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
79659	DYNC2H1	HP:0000766	Abnormal sternum morphology	HP:0040282	ORPHA:474
79659	DYNC2H1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
79659	DYNC2H1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
79659	DYNC2H1	HP:0000750	Delayed speech and language development	-	OMIM:615777
79659	DYNC2H1	HP:0011463	Childhood onset	3/19	OMIM:180100
79659	DYNC2H1	HP:0011462	Young adult onset	8/19	OMIM:180100
79659	DYNC2H1	HP:0011461	Fetal onset	7/7	OMIM:615777
79659	DYNC2H1	HP:0000774	Narrow chest	HP:0040281	ORPHA:93271
79659	DYNC2H1	HP:0000774	Narrow chest	HP:0040281	ORPHA:474
79659	DYNC2H1	HP:0000774	Narrow chest	2/7	OMIM:615777
79659	DYNC2H1	HP:0000773	Short ribs	-	OMIM:613091
79659	DYNC2H1	HP:0000773	Short ribs	HP:0040281	ORPHA:93271
79659	DYNC2H1	HP:0005716	Lethal skeletal dysplasia	HP:0040281	ORPHA:93271
79659	DYNC2H1	HP:0000926	Platyspondyly	1/7	OMIM:615777
79659	DYNC2H1	HP:0003180	Flat acetabular roof	-	OMIM:615777
79659	DYNC2H1	HP:0004482	Relative macrocephaly	-	OMIM:615777
79659	DYNC2H1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
79659	DYNC2H1	HP:0000888	Horizontal ribs	HP:0040283	OMIM:613091
79659	DYNC2H1	HP:0000889	Abnormal clavicle morphology	HP:0040282	ORPHA:474
79659	DYNC2H1	HP:0000823	Delayed puberty	-	OMIM:131300
79659	DYNC2H1	HP:0010297	Bifid tongue	HP:0040283	OMIM:613091
79659	DYNC2H1	HP:0010297	Bifid tongue	HP:0040283	ORPHA:93271
79659	DYNC2H1	HP:0000895	Lateral clavicle hook	12/20	OMIM:613091
79659	DYNC2H1	HP:0000894	Short clavicles	-	OMIM:615777
79659	DYNC2H1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
79659	DYNC2H1	HP:0003270	Abdominal distention	HP:0040281	ORPHA:93271
79659	DYNC2H1	HP:0004599	Absent or minimally ossified vertebral bodies	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0100259	Postaxial polydactyly	HP:0040283	OMIM:613091
79659	DYNC2H1	HP:0100258	Preaxial polydactyly	HP:0040283	OMIM:613091
79659	DYNC2H1	HP:0010306	Short thorax	HP:0040281	ORPHA:474
79659	DYNC2H1	HP:0010306	Short thorax	HP:0040281	ORPHA:93271
79659	DYNC2H1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
79659	DYNC2H1	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:474
79659	DYNC2H1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:93271
79659	DYNC2H1	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:474
79659	DYNC2H1	HP:0000286	Epicanthus	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0000286	Epicanthus	1/7	OMIM:615777
79659	DYNC2H1	HP:0000280	Coarse facial features	2/7	OMIM:615777
79659	DYNC2H1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
79659	DYNC2H1	HP:0002827	Hip dislocation	3/7	OMIM:615777
79659	DYNC2H1	HP:0005054	Metaphyseal spurs	-	OMIM:613091
79659	DYNC2H1	HP:0000252	Microcephaly	-	OMIM:615777
79659	DYNC2H1	HP:0002857	Genu valgum	-	OMIM:131300
79659	DYNC2H1	HP:0001539	Omphalocele	HP:0040283	ORPHA:93271
79659	DYNC2H1	HP:0001533	Slender build	-	OMIM:131300
79659	DYNC2H1	HP:0000204	Cleft upper lip	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0000204	Cleft upper lip	HP:0040283	OMIM:613091
79659	DYNC2H1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
79659	DYNC2H1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
79659	DYNC2H1	HP:0007807	Optic nerve compression	-	OMIM:131300
79659	DYNC2H1	HP:0012368	Flat face	7/7	OMIM:615777
79659	DYNC2H1	HP:0005257	Thoracic hypoplasia	-	OMIM:613091
79659	DYNC2H1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
79659	DYNC2H1	HP:0000365	Hearing impairment	10/67	OMIM:131300
79659	DYNC2H1	HP:0000343	Long philtrum	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0000343	Long philtrum	1/7	OMIM:615777
79659	DYNC2H1	HP:0011001	Increased bone mineral density	-	OMIM:131300
79659	DYNC2H1	HP:0000347	Micrognathia	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0002983	Micromelia	HP:0040281	ORPHA:93271
79659	DYNC2H1	HP:0002983	Micromelia	HP:0040281	ORPHA:474
79659	DYNC2H1	HP:0002980	Femoral bowing	-	OMIM:613091
79659	DYNC2H1	HP:0000311	Round face	2/7	OMIM:615777
79659	DYNC2H1	HP:0002970	Genu varum	-	OMIM:615777
79659	DYNC2H1	HP:0000303	Mandibular prognathia	-	OMIM:131300
79659	DYNC2H1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
79659	DYNC2H1	HP:0001789	Hydrops fetalis	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0000470	Short neck	1/7	OMIM:615777
79659	DYNC2H1	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:474
79659	DYNC2H1	HP:0001773	Short foot	HP:0040281	ORPHA:93271
79659	DYNC2H1	HP:0001773	Short foot	HP:0040282	ORPHA:474
79659	DYNC2H1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
79659	DYNC2H1	HP:0001763	Pes planus	1/7	OMIM:615777
79659	DYNC2H1	HP:0000445	Wide nose	HP:0040282	ORPHA:93271
79659	DYNC2H1	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:613091
79659	DYNC2H1	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040283	ORPHA:474
79659	DYNC2H1	HP:0000518	Cataract	HP:0040283	ORPHA:93271
79659	DYNC2H1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
79659	DYNC2H1	HP:0001840	Metatarsus adductus	-	OMIM:615777
79659	DYNC2H1	HP:0000520	Proptosis	2/4	OMIM:131300
79659	DYNC2H1	HP:0000520	Proptosis	7/7	OMIM:615777
79659	DYNC2H1	HP:0001830	Postaxial foot polydactyly	HP:0040283	ORPHA:474
79659	DYNC2H1	HP:0000575	Scotoma	5/18	OMIM:180100
79659	DYNC2H1	HP:0000592	Blue sclerae	2/7	OMIM:615777
79659	DYNC2H1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
79659	DYNC2H1	HP:0012514	Lower limb pain	4/4	OMIM:131300
79659	DYNC2H1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
79659	DYNC2H1	HP:0000545	Myopia	-	OMIM:180100
79665	DHX40	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
79665	DHX40	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
79665	DHX40	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
79665	DHX40	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
79665	DHX40	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
79665	DHX40	HP:0003621	Juvenile onset	8/19	OMIM:180100
79665	DHX40	HP:0000662	Nyctalopia	26/28	OMIM:180100
79665	DHX40	HP:0011463	Childhood onset	3/19	OMIM:180100
79665	DHX40	HP:0011462	Young adult onset	8/19	OMIM:180100
79665	DHX40	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
79665	DHX40	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
79665	DHX40	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
79665	DHX40	HP:0000575	Scotoma	5/18	OMIM:180100
79665	DHX40	HP:0000543	Optic disc pallor	1/1	OMIM:180100
79665	DHX40	HP:0000545	Myopia	-	OMIM:180100
79669	C3orf52	HP:0000007	Autosomal recessive inheritance	-	OMIM:620177
79669	C3orf52	HP:0002209	Sparse scalp hair	4/4	OMIM:620177
79693	YRDC	HP:0001181	Adducted thumb	HP:0040283	ORPHA:2065
79693	YRDC	HP:0001166	Arachnodactyly	2/3	OMIM:619609
79693	YRDC	HP:0003774	Stage 5 chronic kidney disease	3/3	OMIM:619609
79693	YRDC	HP:0009879	Simplified gyral pattern	1/2	OMIM:619609
79693	YRDC	HP:0002410	Aqueductal stenosis	HP:0040283	ORPHA:2065
79693	YRDC	HP:0001276	Hypertonia	HP:0040283	ORPHA:2065
79693	YRDC	HP:0001272	Cerebellar atrophy	1/2	OMIM:619609
79693	YRDC	HP:0001250	Seizure	HP:0040282	ORPHA:2065
79693	YRDC	HP:0001252	Hypotonia	1/3	OMIM:619609
79693	YRDC	HP:0001252	Hypotonia	HP:0040283	ORPHA:2065
79693	YRDC	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2065
79693	YRDC	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:2065
79693	YRDC	HP:0000093	Proteinuria	3/3	OMIM:619609
79693	YRDC	HP:0000093	Proteinuria	HP:0040281	ORPHA:2065
79693	YRDC	HP:0000007	Autosomal recessive inheritance	-	OMIM:619609
79693	YRDC	HP:0001336	Myoclonus	1/3	OMIM:619609
79693	YRDC	HP:0001302	Pachygyria	HP:0040282	ORPHA:2065
79693	YRDC	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:2065
79693	YRDC	HP:0031266	Podocyte foot process effacement	1/2	OMIM:619609
79693	YRDC	HP:0000100	Nephrotic syndrome	HP:0040281	ORPHA:2065
79693	YRDC	HP:0000112	Nephropathy	HP:0040281	ORPHA:2065
79693	YRDC	HP:0002036	Hiatus hernia	HP:0040282	ORPHA:2065
79693	YRDC	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:2065
79693	YRDC	HP:0002059	Cerebral atrophy	1/2	OMIM:619609
79693	YRDC	HP:0002188	Delayed CNS myelination	2/2	OMIM:619609
79693	YRDC	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2065
79693	YRDC	HP:0003593	Infantile onset	2/3	OMIM:619609
79693	YRDC	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:2065
79693	YRDC	HP:0003577	Congenital onset	1/3	OMIM:619609
79693	YRDC	HP:0100720	Hypoplasia of the ear cartilage	HP:0040281	ORPHA:2065
79693	YRDC	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2065
79693	YRDC	HP:0001967	Diffuse mesangial sclerosis	2/2	OMIM:619609
79693	YRDC	HP:0000601	Hypotelorism	HP:0040283	ORPHA:2065
79693	YRDC	HP:0004322	Short stature	HP:0040282	ORPHA:2065
79693	YRDC	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:2065
79693	YRDC	HP:0011451	Primary microcephaly	1/3	OMIM:619609
79693	YRDC	HP:0000851	Congenital hypothyroidism	3/3	OMIM:619609
79693	YRDC	HP:0005108	Abnormal intervertebral disk morphology	HP:0040283	ORPHA:2065
79693	YRDC	HP:0000252	Microcephaly	3/3	OMIM:619609
79693	YRDC	HP:0000252	Microcephaly	HP:0040281	ORPHA:2065
79693	YRDC	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2065
79693	YRDC	HP:0000347	Micrognathia	HP:0040283	ORPHA:2065
79693	YRDC	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2065
79693	YRDC	HP:0001622	Premature birth	HP:0040282	ORPHA:2065
79693	YRDC	HP:0000400	Macrotia	HP:0040282	ORPHA:2065
79693	YRDC	HP:0005484	Secondary microcephaly	2/3	OMIM:619609
79703	TOP6BL	HP:0000007	Autosomal recessive inheritance	-	OMIM:618432
79703	TOP6BL	HP:0008222	Female infertility	2/2	OMIM:618432
79703	TOP6BL	HP:0200067	Recurrent spontaneous abortion	-	OMIM:618432
79703	TOP6BL	HP:0032192	Hydatidiform mole	2/2	OMIM:618432
79705	LRRK1	HP:0100923	Clavicular sclerosis	-	OMIM:615198
79705	LRRK1	HP:0100959	Dense metaphyseal bands	1/1	OMIM:615198
79705	LRRK1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
79705	LRRK1	HP:0001293	Cranial nerve compression	-	OMIM:131300
79705	LRRK1	HP:0001250	Seizure	HP:0040283	OMIM:615198
79705	LRRK1	HP:0001252	Hypotonia	1/1	OMIM:615198
79705	LRRK1	HP:0001252	Hypotonia	2/7	OMIM:615777
79705	LRRK1	HP:0001249	Intellectual disability	HP:0040283	OMIM:615198
79705	LRRK1	HP:0001249	Intellectual disability	5/7	OMIM:615777
79705	LRRK1	HP:0001265	Hyporeflexia	1/1	OMIM:615198
79705	LRRK1	HP:0001263	Global developmental delay	1/1	OMIM:615198
79705	LRRK1	HP:0001263	Global developmental delay	-	OMIM:615777
79705	LRRK1	HP:0002515	Waddling gait	54/102	OMIM:131300
79705	LRRK1	HP:0001382	Joint hypermobility	-	OMIM:615777
79705	LRRK1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
79705	LRRK1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
79705	LRRK1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
79705	LRRK1	HP:0001324	Muscle weakness	40/96	OMIM:131300
79705	LRRK1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
79705	LRRK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615198
79705	LRRK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
79705	LRRK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
79705	LRRK1	HP:0002650	Scoliosis	12/14	OMIM:131300
79705	LRRK1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
79705	LRRK1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
79705	LRRK1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
79705	LRRK1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
79705	LRRK1	HP:0000175	Cleft palate	2/7	OMIM:615777
79705	LRRK1	HP:0003388	Easy fatigability	36/76	OMIM:131300
79705	LRRK1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
79705	LRRK1	HP:0003593	Infantile onset	1/1	OMIM:615198
79705	LRRK1	HP:0003510	Severe short stature	7/7	OMIM:615777
79705	LRRK1	HP:0002315	Headache	-	OMIM:131300
79705	LRRK1	HP:0004976	Knee dislocation	6/7	OMIM:615777
79705	LRRK1	HP:0009803	Short phalanx of finger	-	OMIM:615777
79705	LRRK1	HP:0009763	Limb pain	63/92	OMIM:131300
79705	LRRK1	HP:0003621	Juvenile onset	-	OMIM:131300
79705	LRRK1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
79705	LRRK1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
79705	LRRK1	HP:6001056	Out-toeing	-	OMIM:131300
79705	LRRK1	HP:0000651	Diplopia	-	OMIM:131300
79705	LRRK1	HP:0001956	Truncal obesity	2/7	OMIM:615777
79705	LRRK1	HP:0001903	Anemia	HP:0040283	OMIM:131300
79705	LRRK1	HP:0010049	Short metacarpal	-	OMIM:615777
79705	LRRK1	HP:0000678	Dental crowding	-	OMIM:615777
79705	LRRK1	HP:0000670	Carious teeth	-	OMIM:131300
79705	LRRK1	HP:0011304	Broad thumb	2/7	OMIM:615777
79705	LRRK1	HP:0000668	Hypodontia	-	OMIM:615777
79705	LRRK1	HP:0000664	Synophrys	-	OMIM:615777
79705	LRRK1	HP:0004396	Poor appetite	-	OMIM:131300
79705	LRRK1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
79705	LRRK1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
79705	LRRK1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
79705	LRRK1	HP:0003026	Short long bone	7/7	OMIM:615777
79705	LRRK1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
79705	LRRK1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
79705	LRRK1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
79705	LRRK1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
79705	LRRK1	HP:0000750	Delayed speech and language development	-	OMIM:615777
79705	LRRK1	HP:0011461	Fetal onset	7/7	OMIM:615777
79705	LRRK1	HP:0000774	Narrow chest	2/7	OMIM:615777
79705	LRRK1	HP:0000926	Platyspondyly	1/7	OMIM:615777
79705	LRRK1	HP:0003180	Flat acetabular roof	-	OMIM:615777
79705	LRRK1	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040283	OMIM:615198
79705	LRRK1	HP:0004482	Relative macrocephaly	-	OMIM:615777
79705	LRRK1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
79705	LRRK1	HP:0000823	Delayed puberty	-	OMIM:131300
79705	LRRK1	HP:0000894	Short clavicles	-	OMIM:615777
79705	LRRK1	HP:0004576	Sclerotic vertebral endplates	1/1	OMIM:615198
79705	LRRK1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
79705	LRRK1	HP:0100255	Metaphyseal dysplasia	-	OMIM:615198
79705	LRRK1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
79705	LRRK1	HP:0000286	Epicanthus	1/7	OMIM:615777
79705	LRRK1	HP:0000280	Coarse facial features	2/7	OMIM:615777
79705	LRRK1	HP:0002827	Hip dislocation	3/7	OMIM:615777
79705	LRRK1	HP:0000252	Microcephaly	-	OMIM:615777
79705	LRRK1	HP:0002857	Genu valgum	-	OMIM:131300
79705	LRRK1	HP:0001533	Slender build	-	OMIM:131300
79705	LRRK1	HP:0001508	Failure to thrive	1/1	OMIM:615198
79705	LRRK1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
79705	LRRK1	HP:0007807	Optic nerve compression	-	OMIM:131300
79705	LRRK1	HP:0012368	Flat face	7/7	OMIM:615777
79705	LRRK1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
79705	LRRK1	HP:0000365	Hearing impairment	10/67	OMIM:131300
79705	LRRK1	HP:0000343	Long philtrum	1/7	OMIM:615777
79705	LRRK1	HP:0011001	Increased bone mineral density	0/1	OMIM:615198
79705	LRRK1	HP:0011001	Increased bone mineral density	-	OMIM:131300
79705	LRRK1	HP:0000311	Round face	2/7	OMIM:615777
79705	LRRK1	HP:0002970	Genu varum	-	OMIM:615777
79705	LRRK1	HP:0000303	Mandibular prognathia	-	OMIM:131300
79705	LRRK1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
79705	LRRK1	HP:0000470	Short neck	1/7	OMIM:615777
79705	LRRK1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
79705	LRRK1	HP:0001763	Pes planus	1/7	OMIM:615777
79705	LRRK1	HP:0001840	Metatarsus adductus	-	OMIM:615777
79705	LRRK1	HP:0000520	Proptosis	2/4	OMIM:131300
79705	LRRK1	HP:0000520	Proptosis	7/7	OMIM:615777
79705	LRRK1	HP:0000592	Blue sclerae	2/7	OMIM:615777
79705	LRRK1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
79705	LRRK1	HP:0012514	Lower limb pain	4/4	OMIM:131300
79709	COLGALT1	HP:0010864	Intellectual disability, severe	1/2	OMIM:618360
79709	COLGALT1	HP:0001250	Seizure	1/2	OMIM:618360
79709	COLGALT1	HP:0001252	Hypotonia	1/2	OMIM:618360
79709	COLGALT1	HP:0001263	Global developmental delay	1/2	OMIM:618360
79709	COLGALT1	HP:0002514	Cerebral calcification	2/2	OMIM:618360
79709	COLGALT1	HP:0002510	Spastic tetraplegia	1/2	OMIM:618360
79709	COLGALT1	HP:0032325	Lacunar stroke	1/2	OMIM:618360
79709	COLGALT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618360
79709	COLGALT1	HP:0002059	Cerebral atrophy	1/2	OMIM:618360
79709	COLGALT1	HP:0002132	Porencephalic cyst	1/2	OMIM:618360
79709	COLGALT1	HP:0003593	Infantile onset	2/2	OMIM:618360
79709	COLGALT1	HP:0002352	Leukoencephalopathy	2/2	OMIM:618360
79717	PPCS	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
79717	PPCS	HP:0001252	Hypotonia	1/3	OMIM:618189
79717	PPCS	HP:0003819	Death in childhood	2/5	OMIM:618189
79717	PPCS	HP:0000007	Autosomal recessive inheritance	-	OMIM:618189
79717	PPCS	HP:0002092	Pulmonary arterial hypertension	1/5	OMIM:618189
79717	PPCS	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
79717	PPCS	HP:0002151	Increased circulating lactate concentration	3/5	OMIM:618189
79717	PPCS	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
79717	PPCS	HP:0003593	Infantile onset	1/5	OMIM:618189
79717	PPCS	HP:0003623	Neonatal onset	1/5	OMIM:618189
79717	PPCS	HP:0012664	Reduced left ventricular ejection fraction	-	OMIM:618189
79717	PPCS	HP:0011463	Childhood onset	3/5	OMIM:618189
79717	PPCS	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
79717	PPCS	HP:0003198	Myopathy	HP:0040283	ORPHA:154
79717	PPCS	HP:0000969	Edema	HP:0040282	ORPHA:154
79717	PPCS	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
79717	PPCS	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
79717	PPCS	HP:0001522	Death in infancy	1/5	OMIM:618189
79717	PPCS	HP:0012378	Fatigue	HP:0040282	ORPHA:154
79717	PPCS	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
79717	PPCS	HP:0001644	Dilated cardiomyopathy	5/5	OMIM:618189
79717	PPCS	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
79717	PPCS	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
79717	PPCS	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
79718	TBL1XR1	HP:0001169	Broad palm	-	OMIM:602342
79718	TBL1XR1	HP:0009909	Uplifted earlobe	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0032276	Prominent subcalcaneal fat pad	-	OMIM:602342
79718	TBL1XR1	HP:0009890	High anterior hairline	6/6	OMIM:602342
79718	TBL1XR1	HP:0009890	High anterior hairline	HP:0040283	ORPHA:487825
79718	TBL1XR1	HP:0001276	Hypertonia	HP:0040283	OMIM:602342
79718	TBL1XR1	HP:0001250	Seizure	HP:0040283	OMIM:602342
79718	TBL1XR1	HP:0001250	Seizure	HP:0040283	OMIM:616944
79718	TBL1XR1	HP:0001252	Hypotonia	6/6	OMIM:602342
79718	TBL1XR1	HP:0001252	Hypotonia	1/1	OMIM:616944
79718	TBL1XR1	HP:0001252	Hypotonia	HP:0040281	ORPHA:487825
79718	TBL1XR1	HP:0001249	Intellectual disability	6/6	OMIM:602342
79718	TBL1XR1	HP:0001249	Intellectual disability	1/1	OMIM:616944
79718	TBL1XR1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:487825
79718	TBL1XR1	HP:0001263	Global developmental delay	-	OMIM:602342
79718	TBL1XR1	HP:0001263	Global developmental delay	1/1	OMIM:616944
79718	TBL1XR1	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0100853	Hypoplastic areola	-	OMIM:602342
79718	TBL1XR1	HP:0100872	Abnormality of the plantar skin of foot	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0031035	Chronic infection	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0007367	Atrophy/Degeneration affecting the central nervous system	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0001212	Prominent fingertip pads	6/6	OMIM:602342
79718	TBL1XR1	HP:0001212	Prominent fingertip pads	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0002536	Abnormal cortical gyration	HP:0040283	ORPHA:487825
79718	TBL1XR1	HP:0002521	Hypsarrhythmia	1/1	OMIM:616944
79718	TBL1XR1	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0012043	Pendular nystagmus	-	OMIM:602342
79718	TBL1XR1	HP:0012043	Pendular nystagmus	HP:0040283	ORPHA:487825
79718	TBL1XR1	HP:0000054	Micropenis	HP:0040283	OMIM:602342
79718	TBL1XR1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:487825
79718	TBL1XR1	HP:0000028	Cryptorchidism	1/1	OMIM:602342
79718	TBL1XR1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:487825
79718	TBL1XR1	HP:0007552	Abnormal subcutaneous fat tissue distribution	HP:0040281	ORPHA:487825
79718	TBL1XR1	HP:0006191	Deep palmar crease	6/6	OMIM:602342
79718	TBL1XR1	HP:0006191	Deep palmar crease	HP:0040281	ORPHA:487825
79718	TBL1XR1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0001344	Absent speech	HP:0040283	ORPHA:487825
79718	TBL1XR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:602342
79718	TBL1XR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616944
79718	TBL1XR1	HP:0002653	Bone pain	HP:0040283	ORPHA:520
79718	TBL1XR1	HP:0002650	Scoliosis	5/6	OMIM:602342
79718	TBL1XR1	HP:0002650	Scoliosis	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0007605	Excessive wrinkling of palmar skin	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0002708	Prominent median palatal raphe	HP:0040283	OMIM:602342
79718	TBL1XR1	HP:0025420	Diffuse alveolar hemorrhage	HP:0040283	ORPHA:520
79718	TBL1XR1	HP:0031245	Productive cough	HP:0040283	ORPHA:520
79718	TBL1XR1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:520
79718	TBL1XR1	HP:0002714	Downturned corners of mouth	1/1	OMIM:616944
79718	TBL1XR1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:520
79718	TBL1XR1	HP:0011800	Midface retrusion	-	OMIM:602342
79718	TBL1XR1	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:520
79718	TBL1XR1	HP:0002039	Anorexia	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:487825
79718	TBL1XR1	HP:0011900	Hypofibrinogenemia	HP:0040283	ORPHA:520
79718	TBL1XR1	HP:0002265	Large fleshy ears	6/6	OMIM:602342
79718	TBL1XR1	HP:0003593	Infantile onset	1/1	OMIM:616944
79718	TBL1XR1	HP:0100758	Gangrene	HP:0040284	ORPHA:520
79718	TBL1XR1	HP:0011968	Feeding difficulties	HP:0040283	OMIM:602342
79718	TBL1XR1	HP:0002321	Vertigo	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0100608	Metrorrhagia	HP:0040284	ORPHA:520
79718	TBL1XR1	HP:0002308	Chiari malformation	1/2	OMIM:602342
79718	TBL1XR1	HP:0002308	Chiari malformation	HP:0040283	ORPHA:487825
79718	TBL1XR1	HP:0005521	Disseminated intravascular coagulation	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0004279	Short palm	-	OMIM:602342
79718	TBL1XR1	HP:0000637	Long palpebral fissure	1/1	OMIM:616944
79718	TBL1XR1	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:520
79718	TBL1XR1	HP:0001945	Fever	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0001903	Anemia	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0011344	Severe global developmental delay	HP:0040283	ORPHA:487825
79718	TBL1XR1	HP:0011341	Long upper lip	-	OMIM:602342
79718	TBL1XR1	HP:0011341	Long upper lip	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0000687	Widely spaced teeth	HP:0040281	ORPHA:487825
79718	TBL1XR1	HP:0000687	Widely spaced teeth	6/6	OMIM:602342
79718	TBL1XR1	HP:0004325	Decreased body weight	3/6	OMIM:602342
79718	TBL1XR1	HP:0004322	Short stature	6/6	OMIM:602342
79718	TBL1XR1	HP:0000759	Abnormal peripheral nervous system morphology	-	OMIM:602342
79718	TBL1XR1	HP:0000750	Delayed speech and language development	9/9	OMIM:602342
79718	TBL1XR1	HP:0000729	Autistic behavior	1/1	OMIM:616944
79718	TBL1XR1	HP:0011451	Primary microcephaly	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0000790	Hematuria	HP:0040284	ORPHA:520
79718	TBL1XR1	HP:0003196	Short nose	-	OMIM:602342
79718	TBL1XR1	HP:0012811	Wide nasal ridge	HP:0040281	ORPHA:487825
79718	TBL1XR1	HP:0010280	Stomatitis	HP:0040283	ORPHA:520
79718	TBL1XR1	HP:0000979	Purpura	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0000967	Petechiae	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0045025	Narrow palpebral fissure	5/6	OMIM:602342
79718	TBL1XR1	HP:0045025	Narrow palpebral fissure	HP:0040281	ORPHA:487825
79718	TBL1XR1	HP:0009381	Short finger	6/6	OMIM:602342
79718	TBL1XR1	HP:0009381	Short finger	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0000283	Broad face	-	OMIM:602342
79718	TBL1XR1	HP:0000293	Full cheeks	-	OMIM:602342
79718	TBL1XR1	HP:0000289	Broad philtrum	-	OMIM:602342
79718	TBL1XR1	HP:0000289	Broad philtrum	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0000272	Malar flattening	6/6	OMIM:602342
79718	TBL1XR1	HP:0000272	Malar flattening	HP:0040283	ORPHA:487825
79718	TBL1XR1	HP:0000252	Microcephaly	-	OMIM:602342
79718	TBL1XR1	HP:0000248	Brachycephaly	-	OMIM:602342
79718	TBL1XR1	HP:0000248	Brachycephaly	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:487825
79718	TBL1XR1	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:520
79718	TBL1XR1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0000233	Thin vermilion border	6/6	OMIM:602342
79718	TBL1XR1	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:487825
79718	TBL1XR1	HP:0000232	Everted lower lip vermilion	-	OMIM:602342
79718	TBL1XR1	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0031364	Ecchymosis	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0001508	Failure to thrive	HP:0040283	OMIM:602342
79718	TBL1XR1	HP:0001518	Small for gestational age	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0011097	Epileptic spasm	1/1	OMIM:616944
79718	TBL1XR1	HP:0012378	Fatigue	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0000365	Hearing impairment	5/5	OMIM:602342
79718	TBL1XR1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0000358	Posteriorly rotated ears	-	OMIM:602342
79718	TBL1XR1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0032792	Tonic seizure	1/1	OMIM:616944
79718	TBL1XR1	HP:0000348	High forehead	-	OMIM:602342
79718	TBL1XR1	HP:0000348	High forehead	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0000319	Smooth philtrum	6/6	OMIM:602342
79718	TBL1XR1	HP:0000319	Smooth philtrum	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0000316	Hypertelorism	-	OMIM:602342
79718	TBL1XR1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0030140	Oral cavity bleeding	HP:0040283	ORPHA:520
79718	TBL1XR1	HP:0007946	Unilateral narrow palpebral fissure	-	OMIM:602342
79718	TBL1XR1	HP:0006610	Wide intermamillary distance	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0006610	Wide intermamillary distance	14/15	OMIM:602342
79718	TBL1XR1	HP:0000400	Macrotia	HP:0040283	ORPHA:487825
79718	TBL1XR1	HP:0000486	Strabismus	HP:0040283	OMIM:602342
79718	TBL1XR1	HP:0000486	Strabismus	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0000482	Microcornea	HP:0040283	ORPHA:487825
79718	TBL1XR1	HP:0000482	Microcornea	3/6	OMIM:602342
79718	TBL1XR1	HP:0000490	Deeply set eye	-	OMIM:602342
79718	TBL1XR1	HP:0000490	Deeply set eye	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0000455	Broad nasal tip	6/6	OMIM:602342
79718	TBL1XR1	HP:0000470	Short neck	-	OMIM:602342
79718	TBL1XR1	HP:0000470	Short neck	HP:0040281	ORPHA:487825
79718	TBL1XR1	HP:0001773	Short foot	-	OMIM:602342
79718	TBL1XR1	HP:0001769	Broad foot	-	OMIM:602342
79718	TBL1XR1	HP:0001763	Pes planus	HP:0040281	ORPHA:487825
79718	TBL1XR1	HP:0000445	Wide nose	-	OMIM:602342
79718	TBL1XR1	HP:0000421	Epistaxis	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0001824	Weight loss	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0000506	Telecanthus	-	OMIM:602342
79718	TBL1XR1	HP:0000506	Telecanthus	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0001831	Short toe	6/6	OMIM:602342
79718	TBL1XR1	HP:0001831	Short toe	HP:0040282	ORPHA:487825
79718	TBL1XR1	HP:0000581	Blepharophimosis	-	OMIM:602342
79718	TBL1XR1	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0000574	Thick eyebrow	1/1	OMIM:616944
79718	TBL1XR1	HP:0000568	Microphthalmia	-	OMIM:602342
79718	TBL1XR1	HP:0000568	Microphthalmia	HP:0040283	ORPHA:487825
79718	TBL1XR1	HP:0001869	Deep plantar creases	6/6	OMIM:602342
79718	TBL1XR1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0001876	Pancytopenia	HP:0040282	ORPHA:520
79718	TBL1XR1	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:520
79719	AAGAB	HP:0025114	Hypergranulosis	-	OMIM:148600
79719	AAGAB	HP:0025114	Hypergranulosis	HP:0040282	ORPHA:79501
79719	AAGAB	HP:0007530	Punctate palmoplantar hyperkeratosis	3/3	OMIM:148600
79719	AAGAB	HP:0002671	Basal cell carcinoma	HP:0040284	ORPHA:79501
79719	AAGAB	HP:0000006	Autosomal dominant inheritance	-	OMIM:148600
79719	AAGAB	HP:0012189	Hodgkin lymphoma	HP:0040284	ORPHA:79501
79719	AAGAB	HP:0012125	Prostate cancer	HP:0040284	ORPHA:79501
79719	AAGAB	HP:0012126	Stomach cancer	HP:0040284	ORPHA:79501
79719	AAGAB	HP:0100526	Neoplasm of the lung	HP:0040284	ORPHA:79501
79719	AAGAB	HP:0040274	Adenocarcinoma of the small intestine	HP:0040284	ORPHA:79501
79719	AAGAB	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:79501
79719	AAGAB	HP:0003596	Middle age onset	1/3	OMIM:148600
79719	AAGAB	HP:0008404	Nail dystrophy	HP:0040284	ORPHA:79501
79719	AAGAB	HP:0100751	Esophageal neoplasm	HP:0040283	ORPHA:79501
79719	AAGAB	HP:0010622	Neoplasm of the skeletal system	HP:0040284	ORPHA:79501
79719	AAGAB	HP:0025092	Epidermal acanthosis	-	OMIM:148600
79719	AAGAB	HP:0025092	Epidermal acanthosis	HP:0040282	ORPHA:79501
79719	AAGAB	HP:0005584	Renal cell carcinoma	HP:0040284	ORPHA:79501
79719	AAGAB	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:79501
79719	AAGAB	HP:0030692	Brain neoplasm	HP:0040284	ORPHA:79501
79719	AAGAB	HP:0011462	Young adult onset	2/3	OMIM:148600
79719	AAGAB	HP:0045059	Hyperkeratotic papule	HP:0040281	ORPHA:79501
79719	AAGAB	HP:0000972	Palmoplantar hyperkeratosis	HP:0040281	ORPHA:79501
79719	AAGAB	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:79501
79719	AAGAB	HP:0040162	Orthokeratosis	-	OMIM:148600
79719	AAGAB	HP:0040162	Orthokeratosis	HP:0040282	ORPHA:79501
79719	AAGAB	HP:0001595	Abnormal hair morphology	0/3	OMIM:148600
79719	AAGAB	HP:0001597	Abnormal nail morphology	0/3	OMIM:148600
79719	AAGAB	HP:0002861	Melanoma	HP:0040283	ORPHA:79501
79719	AAGAB	HP:0002860	Squamous cell carcinoma	HP:0040284	ORPHA:79501
79719	AAGAB	HP:0006482	Abnormal dental morphology	0/3	OMIM:148600
79719	AAGAB	HP:0011124	Abnormal epidermal morphology	HP:0040281	ORPHA:79501
79719	AAGAB	HP:0006725	Pancreatic adenocarcinoma	HP:0040284	ORPHA:79501
79719	AAGAB	HP:0012500	Verrucous papule	HP:0040283	ORPHA:79501
79719	AAGAB	HP:0012531	Pain	HP:0040283	ORPHA:79501
79722	ANKRD55	HP:0001155	Abnormality of the hand	HP:0040283	ORPHA:85408
79722	ANKRD55	HP:0001371	Flexion contracture	HP:0040283	ORPHA:85408
79722	ANKRD55	HP:0001370	Rheumatoid arthritis	HP:0040283	ORPHA:85410
79722	ANKRD55	HP:0001369	Arthritis	HP:0040281	ORPHA:85410
79722	ANKRD55	HP:0001369	Arthritis	HP:0040282	ORPHA:85408
79722	ANKRD55	HP:0001386	Joint swelling	HP:0040282	ORPHA:85408
79722	ANKRD55	HP:0001387	Joint stiffness	HP:0040282	ORPHA:85408
79722	ANKRD55	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:85410
79722	ANKRD55	HP:0001384	Abnormal hip joint morphology	HP:0040283	ORPHA:85408
79722	ANKRD55	HP:0008850	Severe postnatal growth retardation	HP:0040283	ORPHA:85410
79722	ANKRD55	HP:0008843	Hip osteoarthritis	HP:0040283	ORPHA:85408
79722	ANKRD55	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:85410
79722	ANKRD55	HP:0001433	Hepatosplenomegaly	HP:0040284	ORPHA:85408
79722	ANKRD55	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:85408
79722	ANKRD55	HP:0040313	Oligoarthritis	HP:0040283	ORPHA:85408
79722	ANKRD55	HP:0040313	Oligoarthritis	HP:0040281	ORPHA:85410
79722	ANKRD55	HP:0003326	Myalgia	HP:0040283	ORPHA:85408
79722	ANKRD55	HP:0003319	Abnormality of the cervical spine	HP:0040283	ORPHA:85408
79722	ANKRD55	HP:0011911	Abnormal metacarpophalangeal joint morphology	HP:0040283	ORPHA:85408
79722	ANKRD55	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:85410
79722	ANKRD55	HP:0003493	Antinuclear antibody positivity	HP:0040283	ORPHA:85408
79722	ANKRD55	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:85410
79722	ANKRD55	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:85408
79722	ANKRD55	HP:0100769	Synovitis	HP:0040282	ORPHA:85408
79722	ANKRD55	HP:0001094	Iridocyclitis	HP:0040284	ORPHA:85408
79722	ANKRD55	HP:0100686	Enthesitis	HP:0040282	ORPHA:85408
79722	ANKRD55	HP:0010754	Abnormality of the temporomandibular joint	HP:0040283	ORPHA:85408
79722	ANKRD55	HP:0001903	Anemia	HP:0040283	ORPHA:85408
79722	ANKRD55	HP:0003028	Abnormality of the ankle	HP:0040282	ORPHA:85410
79722	ANKRD55	HP:0003043	Abnormal shoulder morphology	HP:0040283	ORPHA:85408
79722	ANKRD55	HP:0003019	Abnormality of the wrist	HP:0040282	ORPHA:85408
79722	ANKRD55	HP:0002829	Arthralgia	HP:0040282	ORPHA:85408
79722	ANKRD55	HP:0005086	Knee osteoarthritis	HP:0040282	ORPHA:85408
79722	ANKRD55	HP:0005086	Knee osteoarthritis	HP:0040282	ORPHA:85410
79722	ANKRD55	HP:0001530	Mild postnatal growth retardation	HP:0040283	ORPHA:85408
79722	ANKRD55	HP:0001508	Failure to thrive	HP:0040282	ORPHA:85410
79722	ANKRD55	HP:0007833	Anterior chamber synechiae	HP:0040283	ORPHA:85410
79722	ANKRD55	HP:0005186	Synovial lining hyperplasia	HP:0040282	ORPHA:85408
79722	ANKRD55	HP:0002960	Autoimmunity	HP:0040282	ORPHA:85410
79722	ANKRD55	HP:0011134	Low-grade fever	HP:0040283	ORPHA:85408
79722	ANKRD55	HP:0011117	Abnormal circulating interleukin concentration	HP:0040282	ORPHA:85410
79722	ANKRD55	HP:0001785	Ankle swelling	HP:0040282	ORPHA:85408
79722	ANKRD55	HP:0000518	Cataract	HP:0040284	ORPHA:85410
79722	ANKRD55	HP:0001824	Weight loss	HP:0040283	ORPHA:85408
79722	ANKRD55	HP:0001832	Abnormal metatarsal morphology	HP:0040283	ORPHA:85408
79722	ANKRD55	HP:0000501	Glaucoma	HP:0040284	ORPHA:85410
79722	ANKRD55	HP:0000585	Band keratopathy	HP:0040283	ORPHA:85410
79722	ANKRD55	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040282	ORPHA:85410
79722	ANKRD55	HP:0000554	Uveitis	HP:0040282	ORPHA:85410
79722	ANKRD55	HP:0000554	Uveitis	HP:0040283	ORPHA:85408
79722	ANKRD55	HP:0000572	Visual loss	HP:0040283	ORPHA:85410
79728	PALB2	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
79728	PALB2	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
79728	PALB2	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
79728	PALB2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
79728	PALB2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
79728	PALB2	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
79728	PALB2	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
79728	PALB2	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
79728	PALB2	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
79728	PALB2	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
79728	PALB2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
79728	PALB2	HP:0000086	Ectopic kidney	1/1	OMIM:610832
79728	PALB2	HP:0000085	Horseshoe kidney	1/7	OMIM:610832
79728	PALB2	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
79728	PALB2	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
79728	PALB2	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
79728	PALB2	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
79728	PALB2	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
79728	PALB2	HP:0025318	Ovarian carcinoma	HP:0040283	ORPHA:1333
79728	PALB2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
79728	PALB2	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
79728	PALB2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
79728	PALB2	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
79728	PALB2	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
79728	PALB2	HP:0008897	Postnatal growth retardation	7/7	OMIM:610832
79728	PALB2	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
79728	PALB2	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
79728	PALB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:610832
79728	PALB2	HP:0002667	Nephroblastoma	3/7	OMIM:610832
79728	PALB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613348
79728	PALB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:620442
79728	PALB2	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
79728	PALB2	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
79728	PALB2	HP:0012125	Prostate cancer	HP:0040283	ORPHA:145
79728	PALB2	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
79728	PALB2	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
79728	PALB2	HP:0000122	Unilateral renal agenesis	1/7	OMIM:610832
79728	PALB2	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
79728	PALB2	HP:0000125	Pelvic kidney	1/7	OMIM:610832
79728	PALB2	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:1333
79728	PALB2	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:1333
79728	PALB2	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
79728	PALB2	HP:0002023	Anal atresia	2/8	OMIM:610832
79728	PALB2	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:1333
79728	PALB2	HP:0002027	Abdominal pain	HP:0040281	ORPHA:1333
79728	PALB2	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
79728	PALB2	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
79728	PALB2	HP:0002039	Anorexia	HP:0040281	ORPHA:1333
79728	PALB2	HP:0100592	Peritoneal abscess	HP:0040283	ORPHA:1333
79728	PALB2	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
79728	PALB2	HP:0010469	Absent testis	HP:0040283	ORPHA:84
79728	PALB2	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
79728	PALB2	HP:0003418	Back pain	HP:0040281	ORPHA:1333
79728	PALB2	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
79728	PALB2	HP:0003577	Congenital onset	1/1	OMIM:610832
79728	PALB2	HP:0002254	Intermittent diarrhea	HP:0040283	ORPHA:1333
79728	PALB2	HP:0003581	Adult onset	-	OMIM:613348
79728	PALB2	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
79728	PALB2	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
79728	PALB2	HP:0004808	Acute myeloid leukemia	2/7	OMIM:610832
79728	PALB2	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
79728	PALB2	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
79728	PALB2	HP:0100615	Ovarian neoplasm	HP:0040281	ORPHA:145
79728	PALB2	HP:0009777	Absent thumb	1/1	OMIM:610832
79728	PALB2	HP:0009778	Short thumb	3/8	OMIM:610832
79728	PALB2	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
79728	PALB2	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
79728	PALB2	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
79728	PALB2	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
79728	PALB2	HP:0001903	Anemia	HP:0040281	ORPHA:84
79728	PALB2	HP:0001915	Aplastic anemia	11/11	OMIM:610832
79728	PALB2	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
79728	PALB2	HP:0004322	Short stature	HP:0040281	ORPHA:84
79728	PALB2	HP:0003002	Breast carcinoma	15/1488	OMIM:620442
79728	PALB2	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:145
79728	PALB2	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:1333
79728	PALB2	HP:0003003	Colon cancer	HP:0040283	ORPHA:1333
79728	PALB2	HP:0004389	Intestinal pseudo-obstruction	HP:0040282	ORPHA:1333
79728	PALB2	HP:0004396	Poor appetite	HP:0040281	ORPHA:1333
79728	PALB2	HP:0003006	Neuroblastoma	1/7	OMIM:610832
79728	PALB2	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
79728	PALB2	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
79728	PALB2	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
79728	PALB2	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
79728	PALB2	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
79728	PALB2	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1333
79728	PALB2	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
79728	PALB2	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
79728	PALB2	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
79728	PALB2	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
79728	PALB2	HP:0003221	Chromosomal breakage induced by crosslinking agents	2/2	OMIM:610832
79728	PALB2	HP:0000957	Cafe-au-lait spot	11/11	OMIM:610832
79728	PALB2	HP:0000953	Hyperpigmentation of the skin	1/7	OMIM:610832
79728	PALB2	HP:0000952	Jaundice	HP:0040282	ORPHA:1333
79728	PALB2	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
79728	PALB2	HP:0000286	Epicanthus	11/11	OMIM:610832
79728	PALB2	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
79728	PALB2	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
79728	PALB2	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
79728	PALB2	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
79728	PALB2	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
79728	PALB2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
79728	PALB2	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:1333
79728	PALB2	HP:0000252	Microcephaly	16/18	OMIM:610832
79728	PALB2	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
79728	PALB2	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
79728	PALB2	HP:0000218	High palate	HP:0040283	ORPHA:84
79728	PALB2	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:145
79728	PALB2	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
79728	PALB2	HP:0002885	Medulloblastoma	5/7	OMIM:610832
79728	PALB2	HP:0002861	Melanoma	HP:0040283	ORPHA:145
79728	PALB2	HP:0002861	Melanoma	HP:0040283	ORPHA:1333
79728	PALB2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
79728	PALB2	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
79728	PALB2	HP:0001518	Small for gestational age	1/1	OMIM:610832
79728	PALB2	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
79728	PALB2	HP:0001510	Growth delay	HP:0040283	ORPHA:84
79728	PALB2	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
79728	PALB2	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
79728	PALB2	HP:0011027	Abnormal fallopian tube morphology	HP:0040281	ORPHA:145
79728	PALB2	HP:0005249	Functional intestinal obstruction	HP:0040282	ORPHA:1333
79728	PALB2	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
79728	PALB2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:1333
79728	PALB2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
79728	PALB2	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
79728	PALB2	HP:0012334	Extrahepatic cholestasis	HP:0040282	ORPHA:1333
79728	PALB2	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
79728	PALB2	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
79728	PALB2	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
79728	PALB2	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
79728	PALB2	HP:0000316	Hypertelorism	11/11	OMIM:610832
79728	PALB2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
79728	PALB2	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
79728	PALB2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
79728	PALB2	HP:0002984	Hypoplasia of the radius	2/7	OMIM:610832
79728	PALB2	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
79728	PALB2	HP:0001629	Ventricular septal defect	1/7	OMIM:610832
79728	PALB2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
79728	PALB2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
79728	PALB2	HP:0001631	Atrial septal defect	1/7	OMIM:610832
79728	PALB2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
79728	PALB2	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
79728	PALB2	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:1333
79728	PALB2	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
79728	PALB2	HP:0000486	Strabismus	HP:0040283	ORPHA:84
79728	PALB2	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
79728	PALB2	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
79728	PALB2	HP:0000470	Short neck	11/11	OMIM:610832
79728	PALB2	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
79728	PALB2	HP:0012432	Chronic fatigue	HP:0040281	ORPHA:1333
79728	PALB2	HP:0001763	Pes planus	HP:0040283	ORPHA:84
79728	PALB2	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
79728	PALB2	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
79728	PALB2	HP:0006725	Pancreatic adenocarcinoma	HP:0040280	ORPHA:1333
79728	PALB2	HP:0006725	Pancreatic adenocarcinoma	-	OMIM:613348
79728	PALB2	HP:0030406	Primary peritoneal carcinoma	HP:0040281	ORPHA:145
79728	PALB2	HP:0000518	Cataract	HP:0040283	ORPHA:84
79728	PALB2	HP:0000520	Proptosis	HP:0040283	ORPHA:84
79728	PALB2	HP:0001824	Weight loss	HP:0040283	ORPHA:84
79728	PALB2	HP:0001824	Weight loss	HP:0040281	ORPHA:1333
79728	PALB2	HP:0000508	Ptosis	HP:0040283	ORPHA:84
79728	PALB2	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
79728	PALB2	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
79728	PALB2	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
79728	PALB2	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
79728	PALB2	HP:0000568	Microphthalmia	3/7	OMIM:610832
79728	PALB2	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
79728	PALB2	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
79728	PALB2	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
79731	NARS2	HP:0002490	Increased CSF lactate	-	OMIM:616239
79731	NARS2	HP:0008619	Bilateral sensorineural hearing impairment	4/4	OMIM:618434
79731	NARS2	HP:0009894	Thickened ears	HP:0040283	ORPHA:79134
79731	NARS2	HP:0003701	Proximal muscle weakness	1/2	OMIM:616239
79731	NARS2	HP:0001290	Generalized hypotonia	-	OMIM:616239
79731	NARS2	HP:0001272	Cerebellar atrophy	-	OMIM:616239
79731	NARS2	HP:0001274	Agenesis of corpus callosum	-	OMIM:616239
79731	NARS2	HP:0001284	Areflexia	-	OMIM:616239
79731	NARS2	HP:0001256	Intellectual disability, mild	1/2	OMIM:616239
79731	NARS2	HP:0001250	Seizure	HP:0040282	ORPHA:79134
79731	NARS2	HP:0001250	Seizure	1/2	OMIM:616239
79731	NARS2	HP:0001252	Hypotonia	-	OMIM:616239
79731	NARS2	HP:0001265	Hyporeflexia	-	OMIM:616239
79731	NARS2	HP:0001260	Dysarthria	1/2	OMIM:616239
79731	NARS2	HP:0001263	Global developmental delay	-	OMIM:616239
79731	NARS2	HP:0001257	Spasticity	-	OMIM:616239
79731	NARS2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:79134
79731	NARS2	HP:0002529	Neuronal loss in central nervous system	-	OMIM:616239
79731	NARS2	HP:0000097	Focal segmental glomerulosclerosis	-	OMIM:616239
79731	NARS2	HP:0001347	Hyperreflexia	-	OMIM:616239
79731	NARS2	HP:0001324	Muscle weakness	-	OMIM:616239
79731	NARS2	HP:0001324	Muscle weakness	HP:0040282	ORPHA:79134
79731	NARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616239
79731	NARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618434
79731	NARS2	HP:0001488	Bilateral ptosis	HP:0040283	ORPHA:79134
79731	NARS2	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:79134
79731	NARS2	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:79134
79731	NARS2	HP:0002013	Vomiting	HP:0040283	ORPHA:79134
79731	NARS2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:616239
79731	NARS2	HP:0003388	Easy fatigability	1/2	OMIM:616239
79731	NARS2	HP:0002151	Increased circulating lactate concentration	-	OMIM:616239
79731	NARS2	HP:0002133	Status epilepticus	-	OMIM:616239
79731	NARS2	HP:0003429	CNS hypomyelination	-	OMIM:616239
79731	NARS2	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:616239
79731	NARS2	HP:0002180	Neurodegeneration	-	OMIM:616239
79731	NARS2	HP:0002171	Gliosis	-	OMIM:616239
79731	NARS2	HP:0003593	Infantile onset	2/2	OMIM:616239
79731	NARS2	HP:0100704	Cerebral visual impairment	-	OMIM:616239
79731	NARS2	HP:0200114	Metabolic alkalosis	-	OMIM:616239
79731	NARS2	HP:0008347	Decreased activity of mitochondrial complex IV	2/2	OMIM:616239
79731	NARS2	HP:0011968	Feeding difficulties	-	OMIM:616239
79731	NARS2	HP:0002376	Developmental regression	-	OMIM:616239
79731	NARS2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:79134
79731	NARS2	HP:0000639	Nystagmus	-	OMIM:616239
79731	NARS2	HP:0000648	Optic atrophy	-	OMIM:616239
79731	NARS2	HP:0001944	Dehydration	HP:0040283	ORPHA:79134
79731	NARS2	HP:0011342	Mild global developmental delay	HP:0040282	ORPHA:79134
79731	NARS2	HP:0003074	Hyperglycemia	HP:0040280	ORPHA:79134
79731	NARS2	HP:0003198	Myopathy	-	OMIM:616239
79731	NARS2	HP:0003196	Short nose	HP:0040283	ORPHA:79134
79731	NARS2	HP:0040025	Clinodactyly of the 4th finger	HP:0040283	ORPHA:79134
79731	NARS2	HP:0003236	Elevated circulating creatine kinase concentration	1/2	OMIM:616239
79731	NARS2	HP:0040217	Elevated hemoglobin A1c	HP:0040281	ORPHA:79134
79731	NARS2	HP:0003202	Skeletal muscle atrophy	1/2	OMIM:616239
79731	NARS2	HP:0003200	Ragged-red muscle fibers	2/2	OMIM:616239
79731	NARS2	HP:0030057	Autoimmune antibody positivity	-	ORPHA:79134
79731	NARS2	HP:0000252	Microcephaly	-	OMIM:616239
79731	NARS2	HP:0000365	Hearing impairment	-	OMIM:616239
79731	NARS2	HP:0000343	Long philtrum	HP:0040283	ORPHA:79134
79731	NARS2	HP:0030319	Weakness of facial musculature	1/2	OMIM:616239
79731	NARS2	HP:0000463	Anteverted nares	HP:0040283	ORPHA:79134
79731	NARS2	HP:0001751	Abnormal vestibular function	HP:0040284	OMIM:618434
79731	NARS2	HP:0005487	Prominent metopic ridge	HP:0040283	ORPHA:79134
79731	NARS2	HP:0000508	Ptosis	1/2	OMIM:616239
79734	KCTD17	HP:0025269	Panic attack	HP:0040282	ORPHA:36899
79734	KCTD17	HP:0001260	Dysarthria	1/8	OMIM:616398
79734	KCTD17	HP:0012075	Personality disorder	HP:0040282	ORPHA:36899
79734	KCTD17	HP:0012049	Laryngeal dystonia	-	OMIM:616398
79734	KCTD17	HP:0001332	Dystonia	7/8	OMIM:616398
79734	KCTD17	HP:0001332	Dystonia	HP:0040281	ORPHA:36899
79734	KCTD17	HP:0000006	Autosomal dominant inheritance	-	OMIM:616398
79734	KCTD17	HP:0001336	Myoclonus	7/8	OMIM:616398
79734	KCTD17	HP:0001336	Myoclonus	HP:0040281	ORPHA:36899
79734	KCTD17	HP:0010531	Spinal myoclonus	HP:0040281	ORPHA:36899
79734	KCTD17	HP:0003676	Progressive	-	OMIM:616398
79734	KCTD17	HP:0002356	Writer's cramp	HP:0040282	ORPHA:36899
79734	KCTD17	HP:0003621	Juvenile onset	5/8	OMIM:616398
79734	KCTD17	HP:0000643	Blepharospasm	3/8	OMIM:616398
79734	KCTD17	HP:0000739	Anxiety	1/8	OMIM:616398
79734	KCTD17	HP:0000739	Anxiety	HP:0040282	ORPHA:36899
79734	KCTD17	HP:0000716	Depression	1/8	OMIM:616398
79734	KCTD17	HP:0000716	Depression	HP:0040282	ORPHA:36899
79734	KCTD17	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:36899
79734	KCTD17	HP:0011463	Childhood onset	2/8	OMIM:616398
79734	KCTD17	HP:0045084	Limb myoclonus	HP:0040281	ORPHA:36899
79734	KCTD17	HP:0001618	Dysphonia	-	OMIM:616398
79734	KCTD17	HP:0000473	Torticollis	HP:0040282	ORPHA:36899
79734	KCTD17	HP:0000473	Torticollis	5/8	OMIM:616398
79734	KCTD17	HP:0025708	Early young adult onset	1/8	OMIM:616398
79736	TEFM	HP:0007305	CNS demyelination	2/2	OMIM:620451
79736	TEFM	HP:0001272	Cerebellar atrophy	1/1	OMIM:620451
79736	TEFM	HP:0001288	Gait disturbance	4/7	OMIM:620451
79736	TEFM	HP:0001251	Ataxia	2/2	OMIM:620451
79736	TEFM	HP:0001249	Intellectual disability	5/6	OMIM:620451
79736	TEFM	HP:0001263	Global developmental delay	1/1	OMIM:620451
79736	TEFM	HP:0033725	Thin corpus callosum	1/1	OMIM:620451
79736	TEFM	HP:0001324	Muscle weakness	2/5	OMIM:620451
79736	TEFM	HP:0000006	Autosomal dominant inheritance	-	OMIM:620451
79736	TEFM	HP:0001336	Myoclonus	1/6	OMIM:620451
79736	TEFM	HP:0007663	Reduced visual acuity	1/5	OMIM:620451
79736	TEFM	HP:0008936	Axial hypotonia	5/7	OMIM:620451
79736	TEFM	HP:0025405	Visual fixation instability	1/1	OMIM:620451
79736	TEFM	HP:0003348	Hyperalaninemia	1/1	OMIM:620451
79736	TEFM	HP:0002013	Vomiting	1/1	OMIM:620451
79736	TEFM	HP:0002069	Bilateral tonic-clonic seizure	2/6	OMIM:620451
79736	TEFM	HP:0002066	Gait ataxia	2/7	OMIM:620451
79736	TEFM	HP:0002151	Increased circulating lactate concentration	7/7	OMIM:620451
79736	TEFM	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1/1	OMIM:620451
79736	TEFM	HP:0011923	Decreased activity of mitochondrial complex I	3/3	OMIM:620451
79736	TEFM	HP:0002171	Gliosis	1/1	OMIM:620451
79736	TEFM	HP:0002267	Exaggerated startle response	1/7	OMIM:620451
79736	TEFM	HP:0003593	Infantile onset	1/7	OMIM:620451
79736	TEFM	HP:0004887	Respiratory failure requiring assisted ventilation	1/7	OMIM:620451
79736	TEFM	HP:0008358	Hyperprolinemia	1/1	OMIM:620451
79736	TEFM	HP:0008347	Decreased activity of mitochondrial complex IV	2/2	OMIM:620451
79736	TEFM	HP:0011968	Feeding difficulties	2/7	OMIM:620451
79736	TEFM	HP:0003648	Lacticaciduria	1/1	OMIM:620451
79736	TEFM	HP:0009830	Peripheral neuropathy	0/7	OMIM:620451
79736	TEFM	HP:0010763	Low insertion of columella	3/7	OMIM:620451
79736	TEFM	HP:0003623	Neonatal onset	1/7	OMIM:620451
79736	TEFM	HP:0000639	Nystagmus	3/6	OMIM:620451
79736	TEFM	HP:0000648	Optic atrophy	2/6	OMIM:620451
79736	TEFM	HP:0001943	Hypoglycemia	1/1	OMIM:620451
79736	TEFM	HP:0000750	Delayed speech and language development	1/1	OMIM:620451
79736	TEFM	HP:0012707	Elevated brain lactate level by MRS	1/1	OMIM:620451
79736	TEFM	HP:0011463	Childhood onset	5/7	OMIM:620451
79736	TEFM	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:620451
79736	TEFM	HP:0012847	Epilepsia partialis continua	1/6	OMIM:620451
79736	TEFM	HP:0003200	Ragged-red muscle fibers	2/3	OMIM:620451
79736	TEFM	HP:0034353	Appendicular spasticity	2/6	OMIM:620451
79736	TEFM	HP:0000286	Epicanthus	3/7	OMIM:620451
79736	TEFM	HP:0000252	Microcephaly	1/1	OMIM:620451
79736	TEFM	HP:0012389	Appendicular hypotonia	1/7	OMIM:620451
79736	TEFM	HP:0000369	Low-set ears	2/7	OMIM:620451
79736	TEFM	HP:0000486	Strabismus	2/5	OMIM:620451
79736	TEFM	HP:0000426	Prominent nasal bridge	1/7	OMIM:620451
79736	TEFM	HP:0000508	Ptosis	3/6	OMIM:620451
79736	TEFM	HP:0000597	Ophthalmoparesis	1/1	OMIM:620451
79736	TEFM	HP:0000572	Visual loss	1/1	OMIM:620451
79738	BBS10	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
79738	BBS10	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
79738	BBS10	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
79738	BBS10	HP:0001256	Intellectual disability, mild	1/1	OMIM:615987
79738	BBS10	HP:0001250	Seizure	1/1	OMIM:615987
79738	BBS10	HP:0001250	Seizure	HP:0040283	ORPHA:110
79738	BBS10	HP:0001251	Ataxia	HP:0040283	ORPHA:110
79738	BBS10	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
79738	BBS10	HP:0001263	Global developmental delay	1/1	OMIM:615987
79738	BBS10	HP:0001257	Spasticity	HP:0040283	ORPHA:110
79738	BBS10	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
79738	BBS10	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
79738	BBS10	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
79738	BBS10	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
79738	BBS10	HP:0000083	Renal insufficiency	-	OMIM:615987
79738	BBS10	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
79738	BBS10	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
79738	BBS10	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
79738	BBS10	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
79738	BBS10	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
79738	BBS10	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
79738	BBS10	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
79738	BBS10	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
79738	BBS10	HP:0000007	Autosomal recessive inheritance	-	OMIM:615987
79738	BBS10	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
79738	BBS10	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
79738	BBS10	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
79738	BBS10	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
79738	BBS10	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
79738	BBS10	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
79738	BBS10	HP:0000135	Hypogonadism	-	OMIM:615987
79738	BBS10	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
79738	BBS10	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
79738	BBS10	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
79738	BBS10	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
79738	BBS10	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
79738	BBS10	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
79738	BBS10	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
79738	BBS10	HP:0000107	Renal cyst	-	OMIM:615987
79738	BBS10	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
79738	BBS10	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
79738	BBS10	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
79738	BBS10	HP:0002099	Asthma	HP:0040283	ORPHA:110
79738	BBS10	HP:0010442	Polydactyly	0/1	OMIM:615987
79738	BBS10	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
79738	BBS10	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
79738	BBS10	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
79738	BBS10	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
79738	BBS10	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
79738	BBS10	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
79738	BBS10	HP:0003621	Juvenile onset	8/19	OMIM:180100
79738	BBS10	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
79738	BBS10	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
79738	BBS10	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
79738	BBS10	HP:0000618	Blindness	HP:0040282	ORPHA:110
79738	BBS10	HP:0000613	Photophobia	HP:0040282	ORPHA:110
79738	BBS10	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
79738	BBS10	HP:0000691	Microdontia	HP:0040283	ORPHA:110
79738	BBS10	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
79738	BBS10	HP:0000662	Nyctalopia	26/28	OMIM:180100
79738	BBS10	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
79738	BBS10	HP:0004322	Short stature	HP:0040282	ORPHA:110
79738	BBS10	HP:0000739	Anxiety	HP:0040283	ORPHA:110
79738	BBS10	HP:0000736	Short attention span	HP:0040282	ORPHA:110
79738	BBS10	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
79738	BBS10	HP:0000716	Depression	HP:0040282	ORPHA:110
79738	BBS10	HP:0000717	Autism	HP:0040282	ORPHA:110
79738	BBS10	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
79738	BBS10	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
79738	BBS10	HP:0011463	Childhood onset	3/19	OMIM:180100
79738	BBS10	HP:0011462	Young adult onset	8/19	OMIM:180100
79738	BBS10	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
79738	BBS10	HP:0000789	Infertility	HP:0040283	ORPHA:110
79738	BBS10	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
79738	BBS10	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
79738	BBS10	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
79738	BBS10	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
79738	BBS10	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
79738	BBS10	HP:0000822	Hypertension	HP:0040282	ORPHA:110
79738	BBS10	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
79738	BBS10	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
79738	BBS10	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
79738	BBS10	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
79738	BBS10	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
79738	BBS10	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
79738	BBS10	HP:0000218	High palate	HP:0040282	ORPHA:110
79738	BBS10	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
79738	BBS10	HP:0001513	Obesity	HP:0040281	ORPHA:110
79738	BBS10	HP:0001513	Obesity	1/1	OMIM:615987
79738	BBS10	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
79738	BBS10	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
79738	BBS10	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
79738	BBS10	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
79738	BBS10	HP:0000388	Otitis media	HP:0040283	ORPHA:110
79738	BBS10	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
79738	BBS10	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
79738	BBS10	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
79738	BBS10	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
79738	BBS10	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
79738	BBS10	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
79738	BBS10	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
79738	BBS10	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
79738	BBS10	HP:0000400	Macrotia	HP:0040283	ORPHA:110
79738	BBS10	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
79738	BBS10	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
79738	BBS10	HP:0000486	Strabismus	HP:0040283	ORPHA:110
79738	BBS10	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
79738	BBS10	HP:0000470	Short neck	HP:0040283	ORPHA:110
79738	BBS10	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
79738	BBS10	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
79738	BBS10	HP:0000518	Cataract	HP:0040283	ORPHA:110
79738	BBS10	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
79738	BBS10	HP:0000510	Rod-cone dystrophy	1/1	OMIM:615987
79738	BBS10	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
79738	BBS10	HP:0000575	Scotoma	5/18	OMIM:180100
79738	BBS10	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
79738	BBS10	HP:0000556	Retinal dystrophy	1/1	OMIM:615987
79738	BBS10	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
79738	BBS10	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
79738	BBS10	HP:0000543	Optic disc pallor	1/1	OMIM:180100
79738	BBS10	HP:0000545	Myopia	-	OMIM:180100
79751	SLC25A22	HP:0010851	EEG with burst suppression	4/4	OMIM:609304
79751	SLC25A22	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:1934
79751	SLC25A22	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0002421	Poor head control	HP:0040282	ORPHA:1934
79751	SLC25A22	HP:0001276	Hypertonia	HP:0040283	ORPHA:293181
79751	SLC25A22	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:293181
79751	SLC25A22	HP:0001254	Lethargy	HP:0040282	ORPHA:1934
79751	SLC25A22	HP:0001250	Seizure	HP:0040280	ORPHA:1934
79751	SLC25A22	HP:0001250	Seizure	4/4	OMIM:609304
79751	SLC25A22	HP:0001252	Hypotonia	HP:0040282	ORPHA:293181
79751	SLC25A22	HP:0001252	Hypotonia	-	OMIM:609304
79751	SLC25A22	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1934
79751	SLC25A22	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1934
79751	SLC25A22	HP:0001257	Spasticity	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0001257	Spasticity	4/4	OMIM:609304
79751	SLC25A22	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:293181
79751	SLC25A22	HP:0002540	Inability to walk	HP:0040281	ORPHA:293181
79751	SLC25A22	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:293181
79751	SLC25A22	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:1934
79751	SLC25A22	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0003819	Death in childhood	-	OMIM:609304
79751	SLC25A22	HP:0000070	Ureterocele	HP:0040284	ORPHA:1934
79751	SLC25A22	HP:0000054	Micropenis	HP:0040284	ORPHA:1934
79751	SLC25A22	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1934
79751	SLC25A22	HP:0001332	Dystonia	HP:0040284	ORPHA:1934
79751	SLC25A22	HP:0000007	Autosomal recessive inheritance	-	OMIM:609304
79751	SLC25A22	HP:0001337	Tremor	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0001336	Myoclonus	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0001302	Pachygyria	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0002650	Scoliosis	HP:0040283	ORPHA:293181
79751	SLC25A22	HP:0001319	Neonatal hypotonia	4/4	OMIM:609304
79751	SLC25A22	HP:0000175	Cleft palate	HP:0040284	ORPHA:1934
79751	SLC25A22	HP:0008947	Floppy infant	HP:0040282	ORPHA:1934
79751	SLC25A22	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:1934
79751	SLC25A22	HP:0002033	Poor suck	HP:0040282	ORPHA:1934
79751	SLC25A22	HP:0002015	Dysphagia	HP:0040282	ORPHA:1934
79751	SLC25A22	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:293181
79751	SLC25A22	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:293181
79751	SLC25A22	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:293181
79751	SLC25A22	HP:0002059	Cerebral atrophy	-	OMIM:609304
79751	SLC25A22	HP:0002123	Generalized myoclonic seizure	2/4	OMIM:609304
79751	SLC25A22	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:1934
79751	SLC25A22	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1934
79751	SLC25A22	HP:0200134	Epileptic encephalopathy	4/4	OMIM:609304
79751	SLC25A22	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:1934
79751	SLC25A22	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1934
79751	SLC25A22	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:293181
79751	SLC25A22	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:1934
79751	SLC25A22	HP:0002376	Developmental regression	HP:0040281	ORPHA:293181
79751	SLC25A22	HP:0002376	Developmental regression	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1934
79751	SLC25A22	HP:0010841	Multifocal epileptiform discharges	HP:0040281	ORPHA:293181
79751	SLC25A22	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0010821	Focal emotional seizure with laughing	HP:0040282	ORPHA:293181
79751	SLC25A22	HP:0010819	Atonic seizure	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0003623	Neonatal onset	4/4	OMIM:609304
79751	SLC25A22	HP:0031834	Aortopulmonary collateral arteries	HP:0040283	ORPHA:293181
79751	SLC25A22	HP:0006813	Focal hemiclonic seizure	HP:0040282	ORPHA:293181
79751	SLC25A22	HP:0000649	Abnormality of visual evoked potentials	2/2	OMIM:609304
79751	SLC25A22	HP:0004302	Functional motor deficit	HP:0040281	ORPHA:293181
79751	SLC25A22	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0010174	Broad phalanx of the toes	HP:0040284	ORPHA:1934
79751	SLC25A22	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:293181
79751	SLC25A22	HP:0011421	Death in adolescence	1/4	OMIM:609304
79751	SLC25A22	HP:0000826	Precocious puberty	HP:0040284	ORPHA:293181
79751	SLC25A22	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1934
79751	SLC25A22	HP:0009381	Short finger	HP:0040284	ORPHA:1934
79751	SLC25A22	HP:0000252	Microcephaly	HP:0040284	ORPHA:1934
79751	SLC25A22	HP:0000252	Microcephaly	HP:0040282	ORPHA:293181
79751	SLC25A22	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1934
79751	SLC25A22	HP:0001508	Failure to thrive	HP:0040284	ORPHA:1934
79751	SLC25A22	HP:0001508	Failure to thrive	HP:0040283	ORPHA:293181
79751	SLC25A22	HP:0001500	Broad finger	HP:0040284	ORPHA:1934
79751	SLC25A22	HP:0011097	Epileptic spasm	HP:0040283	ORPHA:293181
79751	SLC25A22	HP:0000340	Sloping forehead	HP:0040284	ORPHA:1934
79751	SLC25A22	HP:0032794	Myoclonic seizure	HP:0040282	ORPHA:293181
79751	SLC25A22	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:1934
79751	SLC25A22	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:1934
79751	SLC25A22	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:1934
79751	SLC25A22	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:1934
79751	SLC25A22	HP:0000486	Strabismus	HP:0040284	ORPHA:1934
79751	SLC25A22	HP:0012469	Infantile spasms	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1934
79751	SLC25A22	HP:0012448	Delayed myelination	HP:0040283	ORPHA:293181
79751	SLC25A22	HP:0012448	Delayed myelination	-	OMIM:609304
79751	SLC25A22	HP:0012448	Delayed myelination	HP:0040283	ORPHA:1934
79751	SLC25A22	HP:0012444	Brain atrophy	2/4	OMIM:609304
79751	SLC25A22	HP:0005484	Secondary microcephaly	4/4	OMIM:609304
79751	SLC25A22	HP:0000505	Visual impairment	HP:0040283	ORPHA:293181
79751	SLC25A22	HP:0012554	Absent thumbnail	HP:0040284	ORPHA:1934
79753	SNIP1	HP:0001182	Tapered finger	20/37	OMIM:614501
79753	SNIP1	HP:0001250	Seizure	37/37	OMIM:614501
79753	SNIP1	HP:0001252	Hypotonia	35/35	OMIM:614501
79753	SNIP1	HP:0001265	Hyporeflexia	35/35	OMIM:614501
79753	SNIP1	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:614501
79753	SNIP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614501
79753	SNIP1	HP:0000158	Macroglossia	-	OMIM:614501
79753	SNIP1	HP:0000154	Wide mouth	37/37	OMIM:614501
79753	SNIP1	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:614501
79753	SNIP1	HP:0002119	Ventriculomegaly	2/2	OMIM:614501
79753	SNIP1	HP:0003429	CNS hypomyelination	2/2	OMIM:614501
79753	SNIP1	HP:0002263	Exaggerated cupid's bow	35/35	OMIM:614501
79753	SNIP1	HP:0011968	Feeding difficulties	35/35	OMIM:614501
79753	SNIP1	HP:0002353	EEG abnormality	-	OMIM:614501
79753	SNIP1	HP:0004279	Short palm	18/35	OMIM:614501
79753	SNIP1	HP:0001943	Hypoglycemia	7/35	OMIM:614501
79753	SNIP1	HP:0011344	Severe global developmental delay	37/37	OMIM:614501
79753	SNIP1	HP:0011304	Broad thumb	2/2	OMIM:614501
79753	SNIP1	HP:0000666	Horizontal nystagmus	-	OMIM:614501
79753	SNIP1	HP:0012802	Broad jaw	2/2	OMIM:614501
79753	SNIP1	HP:0000218	High palate	35/35	OMIM:614501
79753	SNIP1	HP:0001537	Umbilical hernia	7/35	OMIM:614501
79753	SNIP1	HP:0001518	Small for gestational age	18/35	OMIM:614501
79753	SNIP1	HP:0001607	Subglottic stenosis	-	OMIM:614501
79753	SNIP1	HP:0001601	Laryngomalacia	26/35	OMIM:614501
79753	SNIP1	HP:0000347	Micrognathia	10/35	OMIM:614501
79753	SNIP1	HP:0001650	Aortic valve stenosis	-	OMIM:614501
79753	SNIP1	HP:0001647	Bicuspid aortic valve	-	OMIM:614501
79753	SNIP1	HP:0000486	Strabismus	-	OMIM:614501
79753	SNIP1	HP:0000414	Bulbous nose	2/2	OMIM:614501
79753	SNIP1	HP:0001762	Talipes equinovarus	5/35	OMIM:614501
79755	ZNF750	HP:0000006	Autosomal dominant inheritance	-	OMIM:610227
79755	ZNF750	HP:0001051	Seborrheic dermatitis	-	OMIM:610227
79755	ZNF750	HP:0025092	Epidermal acanthosis	-	OMIM:610227
79755	ZNF750	HP:0032152	Keratosis pilaris	-	OMIM:610227
79755	ZNF750	HP:0000962	Hyperkeratosis	-	OMIM:610227
79759	ZNF668	HP:0001250	Seizure	2/3	OMIM:620194
79759	ZNF668	HP:0001252	Hypotonia	3/3	OMIM:620194
79759	ZNF668	HP:0001249	Intellectual disability	2/2	OMIM:620194
79759	ZNF668	HP:0001263	Global developmental delay	3/3	OMIM:620194
79759	ZNF668	HP:0000007	Autosomal recessive inheritance	-	OMIM:620194
79759	ZNF668	HP:0002783	Recurrent lower respiratory tract infections	1/3	OMIM:620194
79759	ZNF668	HP:0002061	Lower limb spasticity	1/3	OMIM:620194
79759	ZNF668	HP:0003593	Infantile onset	3/3	OMIM:620194
79759	ZNF668	HP:0200134	Epileptic encephalopathy	1/3	OMIM:620194
79759	ZNF668	HP:0011968	Feeding difficulties	1/3	OMIM:620194
79759	ZNF668	HP:0430028	Hyperplasia of the maxilla	2/3	OMIM:620194
79759	ZNF668	HP:0011304	Broad thumb	1/3	OMIM:620194
79759	ZNF668	HP:0000768	Pectus carinatum	1/3	OMIM:620194
79759	ZNF668	HP:0000819	Diabetes mellitus	1/3	OMIM:620194
79759	ZNF668	HP:0000938	Osteopenia	1/2	OMIM:620194
79759	ZNF668	HP:0030084	Clinodactyly	1/3	OMIM:620194
79759	ZNF668	HP:0000252	Microcephaly	3/3	OMIM:620194
79759	ZNF668	HP:0000218	High palate	2/3	OMIM:620194
79759	ZNF668	HP:0001508	Failure to thrive	3/3	OMIM:620194
79759	ZNF668	HP:0001518	Small for gestational age	3/3	OMIM:620194
79759	ZNF668	HP:0000384	Preauricular skin tag	2/3	OMIM:620194
79759	ZNF668	HP:0001684	Secundum atrial septal defect	1/3	OMIM:620194
79759	ZNF668	HP:0000347	Micrognathia	1/3	OMIM:620194
79759	ZNF668	HP:0000400	Macrotia	3/3	OMIM:620194
79759	ZNF668	HP:0000490	Deeply set eye	2/3	OMIM:620194
79759	ZNF668	HP:0012444	Brain atrophy	1/3	OMIM:620194
79759	ZNF668	HP:0000448	Prominent nose	3/3	OMIM:620194
79759	ZNF668	HP:0001847	Long hallux	3/3	OMIM:620194
79759	ZNF668	HP:0001822	Hallux valgus	2/3	OMIM:620194
79759	ZNF668	HP:0000567	Chorioretinal coloboma	1/3	OMIM:620194
79770	TXNDC15	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:564
79770	TXNDC15	HP:0001162	Postaxial hand polydactyly	1/1	OMIM:619879
79770	TXNDC15	HP:0001159	Syndactyly	1/4	OMIM:619879
79770	TXNDC15	HP:0010880	Increased nuchal translucency	1/1	OMIM:619879
79770	TXNDC15	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0000068	Urethral atresia	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:564
79770	TXNDC15	HP:0000062	Ambiguous genitalia	1/4	OMIM:619879
79770	TXNDC15	HP:0001395	Hepatic fibrosis	1/4	OMIM:619879
79770	TXNDC15	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0001360	Holoprosencephaly	1/1	OMIM:619879
79770	TXNDC15	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:564
79770	TXNDC15	HP:0000007	Autosomal recessive inheritance	-	OMIM:619879
79770	TXNDC15	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:564
79770	TXNDC15	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:564
79770	TXNDC15	HP:0000175	Cleft palate	HP:0040282	ORPHA:564
79770	TXNDC15	HP:0000151	Aplasia of the uterus	2/4	OMIM:619879
79770	TXNDC15	HP:0000113	Polycystic kidney dysplasia	6/6	OMIM:619879
79770	TXNDC15	HP:0002089	Pulmonary hypoplasia	1/4	OMIM:619879
79770	TXNDC15	HP:0002085	Occipital encephalocele	6/6	OMIM:619879
79770	TXNDC15	HP:0002084	Encephalocele	HP:0040281	ORPHA:564
79770	TXNDC15	HP:0010459	True hermaphroditism	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0002107	Pneumothorax	1/4	OMIM:619879
79770	TXNDC15	HP:0003577	Congenital onset	4/4	OMIM:619879
79770	TXNDC15	HP:0100732	Pancreatic fibrosis	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0002323	Anencephaly	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0006870	Lobar holoprosencephaly	HP:0040282	ORPHA:564
79770	TXNDC15	HP:0000648	Optic atrophy	HP:0040282	ORPHA:564
79770	TXNDC15	HP:0000647	Sclerocornea	HP:0040282	ORPHA:564
79770	TXNDC15	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0034199	Late first trimester onset	1/1	OMIM:619879
79770	TXNDC15	HP:0034198	Second trimester onset	1/1	OMIM:619879
79770	TXNDC15	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0003270	Abdominal distention	1/1	OMIM:619879
79770	TXNDC15	HP:0100259	Postaxial polydactyly	3/4	OMIM:619879
79770	TXNDC15	HP:0000961	Cyanosis	1/4	OMIM:619879
79770	TXNDC15	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040282	ORPHA:564
79770	TXNDC15	HP:0000278	Retrognathia	1/1	OMIM:619879
79770	TXNDC15	HP:0000293	Full cheeks	HP:0040282	ORPHA:564
79770	TXNDC15	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0000252	Microcephaly	HP:0040281	ORPHA:564
79770	TXNDC15	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:564
79770	TXNDC15	HP:0001562	Oligohydramnios	1/4	OMIM:619879
79770	TXNDC15	HP:0001538	Protuberant abdomen	1/4	OMIM:619879
79770	TXNDC15	HP:0006543	Cardiorespiratory arrest	1/4	OMIM:619879
79770	TXNDC15	HP:0005180	Tricuspid regurgitation	1/4	OMIM:619879
79770	TXNDC15	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0006487	Bowing of the long bones	1/1	OMIM:619879
79770	TXNDC15	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:564
79770	TXNDC15	HP:0000369	Low-set ears	3/4	OMIM:619879
79770	TXNDC15	HP:0000340	Sloping forehead	HP:0040282	ORPHA:564
79770	TXNDC15	HP:0000347	Micrognathia	2/4	OMIM:619879
79770	TXNDC15	HP:0000347	Micrognathia	HP:0040282	ORPHA:564
79770	TXNDC15	HP:0000316	Hypertelorism	3/5	OMIM:619879
79770	TXNDC15	HP:0000316	Hypertelorism	HP:0040282	ORPHA:564
79770	TXNDC15	HP:0001653	Mitral regurgitation	1/4	OMIM:619879
79770	TXNDC15	HP:0000308	Microretrognathia	1/4	OMIM:619879
79770	TXNDC15	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0000482	Microcornea	HP:0040282	ORPHA:564
79770	TXNDC15	HP:0000463	Anteverted nares	1/1	OMIM:619879
79770	TXNDC15	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:564
79770	TXNDC15	HP:0000470	Short neck	1/1	OMIM:619879
79770	TXNDC15	HP:0001750	Single ventricle	1/1	OMIM:619879
79770	TXNDC15	HP:0001746	Asplenia	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0001747	Accessory spleen	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0006706	Cystic liver disease	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0005474	Decreased calvarial ossification	1/1	OMIM:619879
79770	TXNDC15	HP:0000518	Cataract	HP:0040282	ORPHA:564
79770	TXNDC15	HP:0000528	Anophthalmia	HP:0040283	ORPHA:564
79770	TXNDC15	HP:0001830	Postaxial foot polydactyly	1/1	OMIM:619879
79770	TXNDC15	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:564
79770	TXNDC15	HP:0000568	Microphthalmia	1/4	OMIM:619879
79770	TXNDC15	HP:0000568	Microphthalmia	HP:0040282	ORPHA:564
79770	TXNDC15	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:564
79770	TXNDC15	HP:0001883	Talipes	2/4	OMIM:619879
79770	TXNDC15	HP:0001883	Talipes	HP:0040282	ORPHA:564
79783	SUGCT	HP:0001254	Lethargy	HP:0040283	ORPHA:35706
79783	SUGCT	HP:0001263	Global developmental delay	HP:0040283	ORPHA:35706
79783	SUGCT	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	ORPHA:35706
79783	SUGCT	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:35706
79783	SUGCT	HP:0001328	Specific learning disability	HP:0040283	ORPHA:35706
79783	SUGCT	HP:0000007	Autosomal recessive inheritance	-	OMIM:231690
79783	SUGCT	HP:0002014	Diarrhea	-	OMIM:231690
79783	SUGCT	HP:0002013	Vomiting	-	OMIM:231690
79783	SUGCT	HP:0100710	Impulsivity	HP:0040283	ORPHA:35706
79783	SUGCT	HP:0003530	Elevated circulating glutaric acid concentration	HP:0040283	ORPHA:35706
79783	SUGCT	HP:0034688	Reduced peroxisomal glutaryl-CoA oxidase activity	-	OMIM:231690
79783	SUGCT	HP:0001993	Ketoacidosis	HP:0040283	ORPHA:35706
79783	SUGCT	HP:0003150	Glutaric aciduria	HP:0040280	ORPHA:35706
79783	SUGCT	HP:0003150	Glutaric aciduria	6/6	OMIM:231690
79783	SUGCT	HP:0000853	Goiter	HP:0040283	OMIM:231690
79783	SUGCT	HP:0000836	Hyperthyroidism	HP:0040283	OMIM:231690
79783	SUGCT	HP:0000822	Hypertension	-	OMIM:231690
79783	SUGCT	HP:0000960	Sacral dimple	HP:0040283	ORPHA:35706
79783	SUGCT	HP:0001508	Failure to thrive	HP:0040283	ORPHA:35706
79783	SUGCT	HP:0001508	Failure to thrive	-	OMIM:231690
79783	SUGCT	HP:0002919	Ketonuria	HP:0040283	ORPHA:35706
79783	SUGCT	HP:0011021	Abnormal circulating enzyme concentration	HP:0040281	ORPHA:35706
79784	MYH14	HP:0002460	Distal muscle weakness	15/15	OMIM:614369
79784	MYH14	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040282	ORPHA:397744
79784	MYH14	HP:0003701	Proximal muscle weakness	HP:0040283	ORPHA:397744
79784	MYH14	HP:0001284	Areflexia	HP:0040283	ORPHA:397744
79784	MYH14	HP:0001250	Seizure	HP:0040284	ORPHA:397744
79784	MYH14	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:397744
79784	MYH14	HP:0033685	Fiber type grouping	2/2	OMIM:614369
79784	MYH14	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:397744
79784	MYH14	HP:0001369	Arthritis	HP:0040284	ORPHA:397744
79784	MYH14	HP:0001337	Tremor	HP:0040283	ORPHA:397744
79784	MYH14	HP:0001337	Tremor	3/15	OMIM:614369
79784	MYH14	HP:0000006	Autosomal dominant inheritance	-	OMIM:600652
79784	MYH14	HP:0000006	Autosomal dominant inheritance	-	OMIM:614369
79784	MYH14	HP:0002015	Dysphagia	-	ORPHA:397744
79784	MYH14	HP:0011808	Decreased patellar reflex	2/15	OMIM:614369
79784	MYH14	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:397744
79784	MYH14	HP:0008180	Mildly elevated creatine kinase	4/11	OMIM:614369
79784	MYH14	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:397744
79784	MYH14	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:397744
79784	MYH14	HP:0003693	Distal amyotrophy	15/15	OMIM:614369
79784	MYH14	HP:0003676	Progressive	-	OMIM:614369
79784	MYH14	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:397744
79784	MYH14	HP:0009830	Peripheral neuropathy	-	OMIM:614369
79784	MYH14	HP:0003621	Juvenile onset	15/15	OMIM:614369
79784	MYH14	HP:0006844	Absent patellar reflexes	7/15	OMIM:614369
79784	MYH14	HP:0009063	Progressive distal muscle weakness	HP:0040282	ORPHA:397744
79784	MYH14	HP:0000762	Decreased nerve conduction velocity	HP:0040282	ORPHA:397744
79784	MYH14	HP:0030774	Mitochondrial swelling	HP:0040282	ORPHA:397744
79784	MYH14	HP:0003198	Myopathy	HP:0040282	ORPHA:397744
79784	MYH14	HP:0010219	Structural foot deformity	HP:0040282	ORPHA:397744
79784	MYH14	HP:0001609	Hoarse voice	HP:0040282	ORPHA:397744
79784	MYH14	HP:0001609	Hoarse voice	8/15	OMIM:614369
79784	MYH14	HP:0002936	Distal sensory impairment	1/15	OMIM:614369
79784	MYH14	HP:0001605	Vocal cord paralysis	-	ORPHA:397744
79784	MYH14	HP:0000365	Hearing impairment	4/11	OMIM:614369
79784	MYH14	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:600652
79784	MYH14	HP:0001760	Abnormal foot morphology	10/15	OMIM:614369
79784	MYH14	HP:0012548	Fatty replacement of skeletal muscle	HP:0040282	ORPHA:397744
79791	FBXO31	HP:0001249	Intellectual disability	5/5	OMIM:615979
79791	FBXO31	HP:0002553	Highly arched eyebrow	1/5	OMIM:615979
79791	FBXO31	HP:0000007	Autosomal recessive inheritance	-	OMIM:615979
79791	FBXO31	HP:0000664	Synophrys	4/5	OMIM:615979
79791	FBXO31	HP:0000280	Coarse facial features	5/5	OMIM:615979
79791	FBXO31	HP:0000278	Retrognathia	2/5	OMIM:615979
79791	FBXO31	HP:0012368	Flat face	1/5	OMIM:615979
79791	FBXO31	HP:0000336	Prominent supraorbital ridges	3/5	OMIM:615979
79791	FBXO31	HP:0000316	Hypertelorism	2/5	OMIM:615979
79791	FBXO31	HP:0000311	Round face	1/5	OMIM:615979
79791	FBXO31	HP:0000331	Short chin	1/5	OMIM:615979
79791	FBXO31	HP:0012471	Thick vermilion border	5/5	OMIM:615979
79791	FBXO31	HP:0000494	Downslanted palpebral fissures	1/5	OMIM:615979
79791	FBXO31	HP:0000490	Deeply set eye	2/5	OMIM:615979
79791	FBXO31	HP:0000463	Anteverted nares	1/5	OMIM:615979
79791	FBXO31	HP:0000414	Bulbous nose	2/5	OMIM:615979
79791	FBXO31	HP:0000431	Wide nasal bridge	5/5	OMIM:615979
79791	FBXO31	HP:0000582	Upslanted palpebral fissure	1/5	OMIM:615979
79791	FBXO31	HP:0011220	Prominent forehead	1/5	OMIM:615979
79791	FBXO31	HP:0000574	Thick eyebrow	1/5	OMIM:615979
79796	ALG9	HP:0002465	Poor speech	-	OMIM:608776
79796	ALG9	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:730
79796	ALG9	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
79796	ALG9	HP:0001293	Cranial nerve compression	-	OMIM:131300
79796	ALG9	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:79328
79796	ALG9	HP:0001272	Cerebellar atrophy	3/3	OMIM:608776
79796	ALG9	HP:0001250	Seizure	5/5	OMIM:608776
79796	ALG9	HP:0001250	Seizure	HP:0040281	ORPHA:79328
79796	ALG9	HP:0001252	Hypotonia	2/2	OMIM:608776
79796	ALG9	HP:0001252	Hypotonia	HP:0040282	ORPHA:79328
79796	ALG9	HP:0001252	Hypotonia	2/7	OMIM:615777
79796	ALG9	HP:0001249	Intellectual disability	-	OMIM:608776
79796	ALG9	HP:0001249	Intellectual disability	HP:0040281	ORPHA:79328
79796	ALG9	HP:0001249	Intellectual disability	5/7	OMIM:615777
79796	ALG9	HP:0001263	Global developmental delay	5/5	OMIM:608776
79796	ALG9	HP:0001263	Global developmental delay	HP:0040281	ORPHA:79328
79796	ALG9	HP:0001263	Global developmental delay	-	OMIM:615777
79796	ALG9	HP:0001234	Hitchhiker thumb	HP:0040283	ORPHA:79328
79796	ALG9	HP:0002557	Hypoplastic nipples	HP:0040283	ORPHA:79328
79796	ALG9	HP:0008776	Abnormal renal artery morphology	HP:0040283	ORPHA:79328
79796	ALG9	HP:0008724	Hypoplasia of the ovary	HP:0040283	ORPHA:79328
79796	ALG9	HP:0100865	Broad ischia	HP:0040283	ORPHA:79328
79796	ALG9	HP:0007385	Aplasia cutis congenita of scalp	HP:0040283	ORPHA:79328
79796	ALG9	HP:0008672	Calcium oxalate nephrolithiasis	HP:0040283	ORPHA:730
79796	ALG9	HP:0002515	Waddling gait	54/102	OMIM:131300
79796	ALG9	HP:0032313	Frontotemporal hypertrichosis	-	OMIM:263210
79796	ALG9	HP:0000083	Renal insufficiency	HP:0040281	ORPHA:730
79796	ALG9	HP:0001371	Flexion contracture	1/10	OMIM:263210
79796	ALG9	HP:0001382	Joint hypermobility	-	OMIM:615777
79796	ALG9	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:79328
79796	ALG9	HP:0001347	Hyperreflexia	1/4	OMIM:608776
79796	ALG9	HP:0002694	Sclerosis of skull base	-	OMIM:131300
79796	ALG9	HP:0008897	Postnatal growth retardation	-	OMIM:615777
79796	ALG9	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
79796	ALG9	HP:0001324	Muscle weakness	40/96	OMIM:131300
79796	ALG9	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:730
79796	ALG9	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
79796	ALG9	HP:0000007	Autosomal recessive inheritance	-	OMIM:608776
79796	ALG9	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
79796	ALG9	HP:0000007	Autosomal recessive inheritance	-	OMIM:263210
79796	ALG9	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
79796	ALG9	HP:0002652	Skeletal dysplasia	4/4	OMIM:608776
79796	ALG9	HP:0002652	Skeletal dysplasia	-	OMIM:263210
79796	ALG9	HP:0002652	Skeletal dysplasia	HP:0040282	ORPHA:79328
79796	ALG9	HP:0002650	Scoliosis	12/14	OMIM:131300
79796	ALG9	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
79796	ALG9	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:730
79796	ALG9	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
79796	ALG9	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
79796	ALG9	HP:0032464	Ureteral hypoplasia	HP:0040283	ORPHA:79328
79796	ALG9	HP:0008905	Rhizomelia	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
79796	ALG9	HP:0000193	Bifid uvula	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000175	Cleft palate	2/7	OMIM:615777
79796	ALG9	HP:0000154	Wide mouth	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000154	Wide mouth	1/4	OMIM:608776
79796	ALG9	HP:0000113	Polycystic kidney dysplasia	0/4	OMIM:608776
79796	ALG9	HP:0000113	Polycystic kidney dysplasia	9/10	OMIM:263210
79796	ALG9	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000107	Renal cyst	HP:0040281	ORPHA:730
79796	ALG9	HP:0000105	Enlarged kidney	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000105	Enlarged kidney	HP:0040283	ORPHA:730
79796	ALG9	HP:0001405	Periportal fibrosis	HP:0040283	ORPHA:79328
79796	ALG9	HP:0001405	Periportal fibrosis	6/8	OMIM:263210
79796	ALG9	HP:0001407	Hepatic cysts	HP:0040281	ORPHA:730
79796	ALG9	HP:0001407	Hepatic cysts	HP:0040283	ORPHA:79328
79796	ALG9	HP:0002750	Delayed skeletal maturation	1/4	OMIM:608776
79796	ALG9	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:79328
79796	ALG9	HP:0002014	Diarrhea	HP:0040283	ORPHA:79328
79796	ALG9	HP:0002013	Vomiting	HP:0040283	ORPHA:79328
79796	ALG9	HP:0002007	Frontal bossing	HP:0040283	ORPHA:79328
79796	ALG9	HP:0002007	Frontal bossing	1/4	OMIM:608776
79796	ALG9	HP:0002089	Pulmonary hypoplasia	9/9	OMIM:263210
79796	ALG9	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:79328
79796	ALG9	HP:0002099	Asthma	1/1	OMIM:608776
79796	ALG9	HP:0002099	Asthma	HP:0040283	ORPHA:79328
79796	ALG9	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:79328
79796	ALG9	HP:0003375	Narrow greater sciatic notch	HP:0040283	ORPHA:79328
79796	ALG9	HP:0003375	Narrow greater sciatic notch	8/8	OMIM:263210
79796	ALG9	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:79328
79796	ALG9	HP:0002059	Cerebral atrophy	3/3	OMIM:608776
79796	ALG9	HP:0003388	Easy fatigability	36/76	OMIM:131300
79796	ALG9	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
79796	ALG9	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040284	ORPHA:730
79796	ALG9	HP:0009487	Ulnar deviation of the hand	HP:0040283	ORPHA:79328
79796	ALG9	HP:0009487	Ulnar deviation of the hand	8/8	OMIM:263210
79796	ALG9	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:79328
79796	ALG9	HP:0002101	Abnormal lung lobation	4/4	OMIM:263210
79796	ALG9	HP:0002188	Delayed CNS myelination	4/4	OMIM:608776
79796	ALG9	HP:0002162	Low posterior hairline	HP:0040283	ORPHA:79328
79796	ALG9	HP:0011849	Abnormal bone ossification	HP:0040283	ORPHA:79328
79796	ALG9	HP:0002265	Large fleshy ears	HP:0040283	ORPHA:79328
79796	ALG9	HP:0002265	Large fleshy ears	5/8	OMIM:263210
79796	ALG9	HP:0003593	Infantile onset	2/2	OMIM:608776
79796	ALG9	HP:0003577	Congenital onset	-	OMIM:263210
79796	ALG9	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:79328
79796	ALG9	HP:0002240	Hepatomegaly	2/2	OMIM:608776
79796	ALG9	HP:0100702	Arachnoid cyst	HP:0040283	ORPHA:730
79796	ALG9	HP:0200134	Epileptic encephalopathy	1/4	OMIM:608776
79796	ALG9	HP:0002283	Global brain atrophy	1/1	OMIM:608776
79796	ALG9	HP:0003510	Severe short stature	7/7	OMIM:615777
79796	ALG9	HP:0002315	Headache	-	OMIM:131300
79796	ALG9	HP:0004976	Knee dislocation	6/7	OMIM:615777
79796	ALG9	HP:0009803	Short phalanx of finger	-	OMIM:615777
79796	ALG9	HP:0010763	Low insertion of columella	HP:0040283	ORPHA:79328
79796	ALG9	HP:0009763	Limb pain	63/92	OMIM:131300
79796	ALG9	HP:0003642	Type I transferrin isoform profile	1/1	OMIM:608776
79796	ALG9	HP:0003621	Juvenile onset	-	OMIM:131300
79796	ALG9	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:730
79796	ALG9	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
79796	ALG9	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
79796	ALG9	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:730
79796	ALG9	HP:6001056	Out-toeing	-	OMIM:131300
79796	ALG9	HP:0000651	Diplopia	-	OMIM:131300
79796	ALG9	HP:0001976	Reduced antithrombin III activity	1/1	OMIM:608776
79796	ALG9	HP:0001956	Truncal obesity	2/7	OMIM:615777
79796	ALG9	HP:0001929	Reduced factor XI activity	1/1	OMIM:608776
79796	ALG9	HP:0001903	Anemia	HP:0040283	OMIM:131300
79796	ALG9	HP:0010049	Short metacarpal	-	OMIM:615777
79796	ALG9	HP:0000678	Dental crowding	-	OMIM:615777
79796	ALG9	HP:0009004	Hypoplasia of the musculature	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000670	Carious teeth	-	OMIM:131300
79796	ALG9	HP:0011304	Broad thumb	2/7	OMIM:615777
79796	ALG9	HP:0000668	Hypodontia	-	OMIM:615777
79796	ALG9	HP:0001999	Abnormal facial shape	0/1	OMIM:608776
79796	ALG9	HP:0000664	Synophrys	-	OMIM:615777
79796	ALG9	HP:0004331	Decreased skull ossification	7/8	OMIM:263210
79796	ALG9	HP:0003073	Hypoalbuminemia	1/1	OMIM:608776
79796	ALG9	HP:0004396	Poor appetite	-	OMIM:131300
79796	ALG9	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
79796	ALG9	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
79796	ALG9	HP:0003015	Flared metaphysis	HP:0040283	ORPHA:79328
79796	ALG9	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
79796	ALG9	HP:0003016	Metaphyseal widening	8/8	OMIM:263210
79796	ALG9	HP:0003026	Short long bone	7/7	OMIM:615777
79796	ALG9	HP:0003026	Short long bone	10/10	OMIM:263210
79796	ALG9	HP:0003026	Short long bone	HP:0040283	ORPHA:79328
79796	ALG9	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
79796	ALG9	HP:0000767	Pectus excavatum	2/7	OMIM:615777
79796	ALG9	HP:0000768	Pectus carinatum	1/7	OMIM:615777
79796	ALG9	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
79796	ALG9	HP:0000737	Irritability	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000750	Delayed speech and language development	-	OMIM:615777
79796	ALG9	HP:0012704	Widened subarachnoid space	HP:0040283	ORPHA:79328
79796	ALG9	HP:0011473	Villous atrophy	1/1	OMIM:608776
79796	ALG9	HP:0011473	Villous atrophy	HP:0040283	ORPHA:79328
79796	ALG9	HP:0011461	Fetal onset	7/7	OMIM:615777
79796	ALG9	HP:0009125	Lipodystrophy	0/1	OMIM:608776
79796	ALG9	HP:0009125	Lipodystrophy	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000774	Narrow chest	2/7	OMIM:615777
79796	ALG9	HP:0000776	Congenital diaphragmatic hernia	1/10	OMIM:263210
79796	ALG9	HP:0000791	Uric acid nephrolithiasis	HP:0040283	ORPHA:730
79796	ALG9	HP:0000790	Hematuria	HP:0040282	ORPHA:730
79796	ALG9	HP:0003196	Short nose	HP:0040283	ORPHA:79328
79796	ALG9	HP:0003196	Short nose	1/4	OMIM:608776
79796	ALG9	HP:0000926	Platyspondyly	1/7	OMIM:615777
79796	ALG9	HP:0003186	Inverted nipples	1/1	OMIM:608776
79796	ALG9	HP:0003186	Inverted nipples	HP:0040282	ORPHA:79328
79796	ALG9	HP:0003180	Flat acetabular roof	-	OMIM:615777
79796	ALG9	HP:0004482	Relative macrocephaly	-	OMIM:615777
79796	ALG9	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
79796	ALG9	HP:0003146	Hypocholesterolemia	1/1	OMIM:608776
79796	ALG9	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000813	Bicornuate uterus	3/3	OMIM:263210
79796	ALG9	HP:0000822	Hypertension	HP:0040282	ORPHA:730
79796	ALG9	HP:0000823	Delayed puberty	-	OMIM:131300
79796	ALG9	HP:0000894	Short clavicles	-	OMIM:615777
79796	ALG9	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
79796	ALG9	HP:0003259	Elevated circulating creatinine concentration	HP:0040281	ORPHA:730
79796	ALG9	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
79796	ALG9	HP:0000286	Epicanthus	1/7	OMIM:615777
79796	ALG9	HP:0000286	Epicanthus	3/9	OMIM:263210
79796	ALG9	HP:0000280	Coarse facial features	2/7	OMIM:615777
79796	ALG9	HP:0000278	Retrognathia	9/9	OMIM:263210
79796	ALG9	HP:0000260	Wide anterior fontanel	4/6	OMIM:263210
79796	ALG9	HP:0000260	Wide anterior fontanel	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000270	Delayed cranial suture closure	HP:0040283	ORPHA:79328
79796	ALG9	HP:0005133	Right ventricular dilatation	HP:0040283	ORPHA:79328
79796	ALG9	HP:0002827	Hip dislocation	2/4	OMIM:608776
79796	ALG9	HP:0002827	Hip dislocation	3/7	OMIM:615777
79796	ALG9	HP:0002808	Kyphosis	1/4	OMIM:608776
79796	ALG9	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:79328
79796	ALG9	HP:0000252	Microcephaly	4/5	OMIM:608776
79796	ALG9	HP:0000252	Microcephaly	-	OMIM:615777
79796	ALG9	HP:0000252	Microcephaly	9/11	OMIM:263210
79796	ALG9	HP:0012213	Decreased glomerular filtration rate	HP:0040281	ORPHA:730
79796	ALG9	HP:0000248	Brachycephaly	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000248	Brachycephaly	1/4	OMIM:608776
79796	ALG9	HP:0000248	Brachycephaly	-	OMIM:263210
79796	ALG9	HP:0012207	Reduced sperm motility	HP:0040283	ORPHA:730
79796	ALG9	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:79328
79796	ALG9	HP:0001562	Oligohydramnios	1/5	OMIM:263210
79796	ALG9	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:79328
79796	ALG9	HP:0001561	Polyhydramnios	1/5	OMIM:263210
79796	ALG9	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:79328
79796	ALG9	HP:0001558	Decreased fetal movement	1/4	OMIM:608776
79796	ALG9	HP:0002857	Genu valgum	-	OMIM:131300
79796	ALG9	HP:0001541	Ascites	1/4	OMIM:608776
79796	ALG9	HP:0001539	Omphalocele	2/5	OMIM:263210
79796	ALG9	HP:0001539	Omphalocele	HP:0040283	ORPHA:79328
79796	ALG9	HP:0001533	Slender build	-	OMIM:131300
79796	ALG9	HP:0001508	Failure to thrive	4/5	OMIM:608776
79796	ALG9	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
79796	ALG9	HP:0007807	Optic nerve compression	-	OMIM:131300
79796	ALG9	HP:0012368	Flat face	7/7	OMIM:615777
79796	ALG9	HP:0025672	Fetal skin edema	1/4	OMIM:608776
79796	ALG9	HP:0006557	Polycystic liver disease	HP:0040283	ORPHA:730
79796	ALG9	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
79796	ALG9	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000365	Hearing impairment	10/67	OMIM:131300
79796	ALG9	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000358	Posteriorly rotated ears	10/10	OMIM:263210
79796	ALG9	HP:0011004	Abnormal systemic arterial morphology	HP:0040283	ORPHA:730
79796	ALG9	HP:0001698	Pericardial effusion	2/5	OMIM:608776
79796	ALG9	HP:0001698	Pericardial effusion	HP:0040282	ORPHA:79328
79796	ALG9	HP:0000369	Low-set ears	1/4	OMIM:608776
79796	ALG9	HP:0000369	Low-set ears	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000369	Low-set ears	10/10	OMIM:263210
79796	ALG9	HP:0000343	Long philtrum	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000343	Long philtrum	0/4	OMIM:608776
79796	ALG9	HP:0000343	Long philtrum	1/7	OMIM:615777
79796	ALG9	HP:0012330	Pyelonephritis	HP:0040283	ORPHA:730
79796	ALG9	HP:0011001	Increased bone mineral density	-	OMIM:131300
79796	ALG9	HP:0000347	Micrognathia	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000347	Micrognathia	9/9	OMIM:263210
79796	ALG9	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000319	Smooth philtrum	10/10	OMIM:263210
79796	ALG9	HP:0000316	Hypertelorism	1/4	OMIM:608776
79796	ALG9	HP:0000316	Hypertelorism	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000316	Hypertelorism	6/9	OMIM:263210
79796	ALG9	HP:0000311	Round face	2/7	OMIM:615777
79796	ALG9	HP:0030157	Flank pain	HP:0040282	ORPHA:730
79796	ALG9	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:79328
79796	ALG9	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:79328
79796	ALG9	HP:0001627	Abnormal heart morphology	6/8	OMIM:263210
79796	ALG9	HP:0002970	Genu varum	-	OMIM:615777
79796	ALG9	HP:0000308	Microretrognathia	HP:0040283	ORPHA:79328
79796	ALG9	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:79328
79796	ALG9	HP:0001631	Atrial septal defect	1/4	OMIM:608776
79796	ALG9	HP:0000303	Mandibular prognathia	-	OMIM:131300
79796	ALG9	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:730
79796	ALG9	HP:0006610	Wide intermamillary distance	1/4	OMIM:608776
79796	ALG9	HP:0005343	Hypoplasia of the bladder	HP:0040283	ORPHA:79328
79796	ALG9	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:730
79796	ALG9	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:79328
79796	ALG9	HP:0005280	Depressed nasal bridge	1/4	OMIM:608776
79796	ALG9	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
79796	ALG9	HP:0030215	Inappropriate crying	HP:0040283	ORPHA:79328
79796	ALG9	HP:0012448	Delayed myelination	HP:0040283	ORPHA:79328
79796	ALG9	HP:0001789	Hydrops fetalis	0/4	OMIM:608776
79796	ALG9	HP:0001789	Hydrops fetalis	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000473	Torticollis	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000474	Thickened nuchal skin fold	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000474	Thickened nuchal skin fold	9/9	OMIM:263210
79796	ALG9	HP:0000470	Short neck	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000470	Short neck	1/4	OMIM:608776
79796	ALG9	HP:0000470	Short neck	1/7	OMIM:615777
79796	ALG9	HP:0000470	Short neck	9/9	OMIM:263210
79796	ALG9	HP:0011103	Abnormal left ventricular outflow tract morphology	HP:0040283	ORPHA:79328
79796	ALG9	HP:0001769	Broad foot	HP:0040283	OMIM:615777
79796	ALG9	HP:0001763	Pes planus	1/7	OMIM:615777
79796	ALG9	HP:0000444	Convex nasal ridge	20/20	OMIM:263210
79796	ALG9	HP:0000444	Convex nasal ridge	HP:0040283	ORPHA:79328
79796	ALG9	HP:0001744	Splenomegaly	1/1	OMIM:608776
79796	ALG9	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000430	Underdeveloped nasal alae	19/19	OMIM:263210
79796	ALG9	HP:0000430	Underdeveloped nasal alae	HP:0040283	ORPHA:79328
79796	ALG9	HP:0005487	Prominent metopic ridge	HP:0040283	ORPHA:79328
79796	ALG9	HP:0001840	Metatarsus adductus	-	OMIM:615777
79796	ALG9	HP:0000520	Proptosis	2/4	OMIM:131300
79796	ALG9	HP:0000520	Proptosis	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000520	Proptosis	7/7	OMIM:615777
79796	ALG9	HP:0000520	Proptosis	8/9	OMIM:263210
79796	ALG9	HP:0000506	Telecanthus	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000506	Telecanthus	6/9	OMIM:263210
79796	ALG9	HP:0012591	Abnormal urinary electrolyte concentration	HP:0040282	ORPHA:730
79796	ALG9	HP:0012592	Albuminuria	HP:0040282	ORPHA:730
79796	ALG9	HP:0000592	Blue sclerae	2/7	OMIM:615777
79796	ALG9	HP:0000586	Shallow orbits	HP:0040283	ORPHA:79328
79796	ALG9	HP:0000565	Esotropia	1/1	OMIM:608776
79796	ALG9	HP:0000565	Esotropia	HP:0040283	ORPHA:79328
79796	ALG9	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
79796	ALG9	HP:0012514	Lower limb pain	4/4	OMIM:131300
79797	ZNF408	HP:0001147	Retinal exudate	1/6	OMIM:616468
79797	ZNF408	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
79797	ZNF408	HP:0001133	Constriction of peripheral visual field	3/3	OMIM:616469
79797	ZNF408	HP:0001141	Severely reduced visual acuity	HP:0040283	ORPHA:891
79797	ZNF408	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
79797	ZNF408	HP:0001270	Motor delay	HP:0040283	ORPHA:891
79797	ZNF408	HP:0100832	Vitreous floaters	HP:0040283	ORPHA:891
79797	ZNF408	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:891
79797	ZNF408	HP:0000007	Autosomal recessive inheritance	-	OMIM:616469
79797	ZNF408	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
79797	ZNF408	HP:0000006	Autosomal dominant inheritance	-	OMIM:616468
79797	ZNF408	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
79797	ZNF408	HP:0001493	Falciform retinal fold	1/6	OMIM:616468
79797	ZNF408	HP:0001493	Falciform retinal fold	HP:0040282	ORPHA:891
79797	ZNF408	HP:0001489	Posterior vitreous detachment	1/6	OMIM:616468
79797	ZNF408	HP:0007685	Peripheral retinal avascularization	HP:0040281	ORPHA:891
79797	ZNF408	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
79797	ZNF408	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
79797	ZNF408	HP:0007663	Reduced visual acuity	3/3	OMIM:616469
79797	ZNF408	HP:0007663	Reduced visual acuity	1/6	OMIM:616468
79797	ZNF408	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
79797	ZNF408	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
79797	ZNF408	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:891
79797	ZNF408	HP:0500087	Peripapillary atrophy	1/3	OMIM:616469
79797	ZNF408	HP:0003596	Middle age onset	1/3	OMIM:616469
79797	ZNF408	HP:0003596	Middle age onset	1/6	OMIM:616468
79797	ZNF408	HP:0003593	Infantile onset	1/6	OMIM:616468
79797	ZNF408	HP:0020045	Esodeviation	2/6	OMIM:616468
79797	ZNF408	HP:0001004	Lymphedema	HP:0040283	ORPHA:891
79797	ZNF408	HP:0003623	Neonatal onset	2/6	OMIM:616468
79797	ZNF408	HP:0003621	Juvenile onset	8/19	OMIM:180100
79797	ZNF408	HP:0003621	Juvenile onset	1/6	OMIM:616468
79797	ZNF408	HP:0030503	Macular telangiectasia	HP:0040283	ORPHA:891
79797	ZNF408	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
79797	ZNF408	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
79797	ZNF408	HP:0000618	Blindness	HP:0040281	ORPHA:791
79797	ZNF408	HP:0000618	Blindness	HP:0040283	ORPHA:891
79797	ZNF408	HP:0000613	Photophobia	2/3	OMIM:616469
79797	ZNF408	HP:0000613	Photophobia	HP:0040281	ORPHA:791
79797	ZNF408	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
79797	ZNF408	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
79797	ZNF408	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
79797	ZNF408	HP:0030490	Exudative vitreoretinopathy	6/6	OMIM:616468
79797	ZNF408	HP:0030496	Macular exudate	HP:0040283	ORPHA:891
79797	ZNF408	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:891
79797	ZNF408	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
79797	ZNF408	HP:0000662	Nyctalopia	3/3	OMIM:616469
79797	ZNF408	HP:0000662	Nyctalopia	26/28	OMIM:180100
79797	ZNF408	HP:0000666	Horizontal nystagmus	2/6	OMIM:616468
79797	ZNF408	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
79797	ZNF408	HP:0030666	Retinal neovascularization	HP:0040282	ORPHA:891
79797	ZNF408	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:891
79797	ZNF408	HP:0100014	Epiretinal membrane	HP:0040283	ORPHA:891
79797	ZNF408	HP:0100018	Nuclear cataract	1/6	OMIM:616468
79797	ZNF408	HP:0100019	Cortical cataract	1/6	OMIM:616468
79797	ZNF408	HP:0012795	Abnormal optic disc morphology	HP:0040282	ORPHA:891
79797	ZNF408	HP:0011463	Childhood onset	3/19	OMIM:180100
79797	ZNF408	HP:0011463	Childhood onset	1/6	OMIM:616468
79797	ZNF408	HP:0011462	Young adult onset	2/3	OMIM:616469
79797	ZNF408	HP:0011462	Young adult onset	8/19	OMIM:180100
79797	ZNF408	HP:0030786	Photopsia	HP:0040283	ORPHA:791
79797	ZNF408	HP:0011530	Retinal hole	1/6	OMIM:616468
79797	ZNF408	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
79797	ZNF408	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
79797	ZNF408	HP:0040049	Macular edema	HP:0040283	ORPHA:891
79797	ZNF408	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
79797	ZNF408	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
79797	ZNF408	HP:0007791	Patchy atrophy of the retinal pigment epithelium	1/6	OMIM:616468
79797	ZNF408	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
79797	ZNF408	HP:0007787	Posterior subcapsular cataract	3/3	OMIM:616469
79797	ZNF408	HP:0007773	Vitreoretinopathy	HP:0040280	ORPHA:891
79797	ZNF408	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
79797	ZNF408	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
79797	ZNF408	HP:0007737	Bone spicule pigmentation of the retina	3/3	OMIM:616469
79797	ZNF408	HP:0012230	Rhegmatogenous retinal detachment	HP:0040283	ORPHA:891
79797	ZNF408	HP:0000252	Microcephaly	HP:0040283	ORPHA:891
79797	ZNF408	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
79797	ZNF408	HP:0007843	Attenuation of retinal blood vessels	3/3	OMIM:616469
79797	ZNF408	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
79797	ZNF408	HP:0031526	Subretinal fluid	HP:0040282	ORPHA:891
79797	ZNF408	HP:0000365	Hearing impairment	HP:0040283	ORPHA:891
79797	ZNF408	HP:0011003	High myopia	1/3	OMIM:616469
79797	ZNF408	HP:0007917	Tractional retinal detachment	1/6	OMIM:616468
79797	ZNF408	HP:0007917	Tractional retinal detachment	HP:0040282	ORPHA:891
79797	ZNF408	HP:0007902	Vitreous hemorrhage	HP:0040283	ORPHA:891
79797	ZNF408	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
79797	ZNF408	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
79797	ZNF408	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
79797	ZNF408	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
79797	ZNF408	HP:0000518	Cataract	1/6	OMIM:616468
79797	ZNF408	HP:0000518	Cataract	HP:0040283	ORPHA:891
79797	ZNF408	HP:0000510	Rod-cone dystrophy	3/3	OMIM:616469
79797	ZNF408	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
79797	ZNF408	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
79797	ZNF408	HP:0000529	Progressive visual loss	-	OMIM:616468
79797	ZNF408	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
79797	ZNF408	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
79797	ZNF408	HP:0000575	Scotoma	5/18	OMIM:180100
79797	ZNF408	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
79797	ZNF408	HP:0000568	Microphthalmia	HP:0040283	ORPHA:891
79797	ZNF408	HP:0000541	Retinal detachment	2/6	OMIM:616468
79797	ZNF408	HP:0000533	Chorioretinal atrophy	HP:0040283	ORPHA:891
79797	ZNF408	HP:0000533	Chorioretinal atrophy	2/6	OMIM:616468
79797	ZNF408	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
79797	ZNF408	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
79797	ZNF408	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
79797	ZNF408	HP:0000543	Optic disc pallor	3/3	OMIM:616469
79797	ZNF408	HP:0000543	Optic disc pallor	1/1	OMIM:180100
79797	ZNF408	HP:0000545	Myopia	2/6	OMIM:616468
79797	ZNF408	HP:0000545	Myopia	-	OMIM:180100
79798	ARMC5	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0031077	Abnormal response to corticotropin releasing hormone stimulation test	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0025383	Dorsocervical fat pad	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:189427
79798	ARMC5	HP:0012030	Increased urinary cortisol level	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0012030	Increased urinary cortisol level	15/15	OMIM:615954
79798	ARMC5	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:189427
79798	ARMC5	HP:0000006	Autosomal dominant inheritance	-	OMIM:615954
79798	ARMC5	HP:0500011	Moon facies	HP:0040281	ORPHA:189427
79798	ARMC5	HP:0001442	Typified by somatic mosaicism	-	OMIM:615954
79798	ARMC5	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:189427
79798	ARMC5	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0008231	Macronodular adrenal hyperplasia	HP:0040280	ORPHA:189427
79798	ARMC5	HP:0008231	Macronodular adrenal hyperplasia	-	OMIM:615954
79798	ARMC5	HP:0008200	Primary hyperparathyroidism	HP:0040284	ORPHA:189427
79798	ARMC5	HP:0003581	Adult onset	-	OMIM:615954
79798	ARMC5	HP:0100754	Mania	HP:0040283	ORPHA:189427
79798	ARMC5	HP:0001050	Plethora	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0001065	Striae distensae	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0001061	Acne	HP:0040283	ORPHA:189427
79798	ARMC5	HP:0001007	Hirsutism	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0002354	Memory impairment	HP:0040283	ORPHA:189427
79798	ARMC5	HP:0100634	Neuroendocrine neoplasm	HP:0040284	ORPHA:189427
79798	ARMC5	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0031845	Abnormal libido	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0005584	Renal cell carcinoma	HP:0040284	ORPHA:189427
79798	ARMC5	HP:0001952	Glucose intolerance	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0004324	Increased body weight	HP:0040283	OMIM:615954
79798	ARMC5	HP:0004324	Increased body weight	HP:0040283	ORPHA:189427
79798	ARMC5	HP:0003077	Hyperlipidemia	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0003074	Hyperglycemia	-	OMIM:615954
79798	ARMC5	HP:0012743	Abdominal obesity	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0012743	Abdominal obesity	HP:0040283	OMIM:615954
79798	ARMC5	HP:0000716	Depression	-	OMIM:615954
79798	ARMC5	HP:0000716	Depression	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0000712	Emotional lability	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0000725	Psychotic episodes	HP:0040283	ORPHA:189427
79798	ARMC5	HP:0000787	Nephrolithiasis	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0003118	Increased circulating cortisol level	15/18	OMIM:615954
79798	ARMC5	HP:0003118	Increased circulating cortisol level	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0000859	Increased circulating aldosterone concentration	HP:0040284	ORPHA:189427
79798	ARMC5	HP:0000858	Irregular menstruation	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0000822	Hypertension	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0000822	Hypertension	-	OMIM:615954
79798	ARMC5	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0000939	Osteoporosis	-	OMIM:615954
79798	ARMC5	HP:0000939	Osteoporosis	HP:0040282	ORPHA:189427
79798	ARMC5	HP:0001596	Alopecia	HP:0040283	ORPHA:189427
79798	ARMC5	HP:0002893	Pituitary adenoma	HP:0040284	ORPHA:189427
79798	ARMC5	HP:0002858	Meningioma	HP:0040284	ORPHA:189427
79798	ARMC5	HP:0012378	Fatigue	-	OMIM:615954
79798	ARMC5	HP:0002920	Decreased circulating ACTH concentration	HP:0040281	ORPHA:189427
79798	ARMC5	HP:0002920	Decreased circulating ACTH concentration	18/18	OMIM:615954
79798	ARMC5	HP:0000311	Round face	-	OMIM:615954
79803	HPS6	HP:0001107	Ocular albinism	-	OMIM:614075
79803	HPS6	HP:0001104	Macular hypoplasia	-	OMIM:614075
79803	HPS6	HP:0001195	Single umbilical artery	1/4	OMIM:614075
79803	HPS6	HP:0001263	Global developmental delay	1/4	OMIM:614075
79803	HPS6	HP:0007443	Partial albinism	1/4	OMIM:614075
79803	HPS6	HP:0000020	Urinary incontinence	1/4	OMIM:614075
79803	HPS6	HP:0000011	Neurogenic bladder	1/4	OMIM:614075
79803	HPS6	HP:0000010	Recurrent urinary tract infections	1/4	OMIM:614075
79803	HPS6	HP:0000007	Autosomal recessive inheritance	-	OMIM:614075
79803	HPS6	HP:0002607	Bowel incontinence	1/4	OMIM:614075
79803	HPS6	HP:0007663	Reduced visual acuity	4/4	OMIM:614075
79803	HPS6	HP:0002788	Recurrent upper respiratory tract infections	1/4	OMIM:614075
79803	HPS6	HP:0002023	Anal atresia	1/4	OMIM:614075
79803	HPS6	HP:0011870	Impaired arachidonic acid-induced platelet aggregation	1/1	OMIM:614075
79803	HPS6	HP:0033263	Absent platelet dense granules	3/4	OMIM:614075
79803	HPS6	HP:0003593	Infantile onset	1/4	OMIM:614075
79803	HPS6	HP:0003577	Congenital onset	2/4	OMIM:614075
79803	HPS6	HP:0004871	Perineal fistula	1/4	OMIM:614075
79803	HPS6	HP:0002206	Pulmonary fibrosis	0/2	OMIM:614075
79803	HPS6	HP:0004866	Impaired ADP-induced platelet aggregation	1/1	OMIM:614075
79803	HPS6	HP:0008320	Impaired collagen-induced platelet aggregation	1/1	OMIM:614075
79803	HPS6	HP:0001010	Hypopigmentation of the skin	1/2	OMIM:614075
79803	HPS6	HP:0001022	Albinism	3/3	OMIM:614075
79803	HPS6	HP:0000639	Nystagmus	3/6	OMIM:614075
79803	HPS6	HP:0000646	Amblyopia	2/2	OMIM:614075
79803	HPS6	HP:0000613	Photophobia	2/2	OMIM:614075
79803	HPS6	HP:0000666	Horizontal nystagmus	2/4	OMIM:614075
79803	HPS6	HP:0003010	Prolonged bleeding time	3/3	OMIM:614075
79803	HPS6	HP:0012805	Iris transillumination defect	3/4	OMIM:614075
79803	HPS6	HP:0030825	Absent foveal reflex	1/4	OMIM:614075
79803	HPS6	HP:0000978	Bruising susceptibility	4/6	OMIM:614075
79803	HPS6	HP:0001583	Rotary nystagmus	1/4	OMIM:614075
79803	HPS6	HP:0031364	Ecchymosis	2/2	OMIM:614075
79803	HPS6	HP:0000365	Hearing impairment	1/4	OMIM:614075
79803	HPS6	HP:0030127	Endometriosis	1/4	OMIM:614075
79803	HPS6	HP:0000486	Strabismus	1/4	OMIM:614075
79803	HPS6	HP:0000421	Epistaxis	2/4	OMIM:614075
79809	TTC21B	HP:0001156	Brachydactyly	HP:0040282	ORPHA:474
79809	TTC21B	HP:0001156	Brachydactyly	2/2	OMIM:613819
79809	TTC21B	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:474
79809	TTC21B	HP:0003774	Stage 5 chronic kidney disease	2/2	OMIM:613819
79809	TTC21B	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:613820
79809	TTC21B	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
79809	TTC21B	HP:0001293	Cranial nerve compression	-	OMIM:131300
79809	TTC21B	HP:0001252	Hypotonia	2/7	OMIM:615777
79809	TTC21B	HP:0001249	Intellectual disability	5/7	OMIM:615777
79809	TTC21B	HP:0001263	Global developmental delay	-	OMIM:615777
79809	TTC21B	HP:0002515	Waddling gait	54/102	OMIM:131300
79809	TTC21B	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:474
79809	TTC21B	HP:0000090	Nephronophthisis	HP:0040283	ORPHA:474
79809	TTC21B	HP:0000090	Nephronophthisis	-	OMIM:613820
79809	TTC21B	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:474
79809	TTC21B	HP:0001382	Joint hypermobility	-	OMIM:615777
79809	TTC21B	HP:0002694	Sclerosis of skull base	-	OMIM:131300
79809	TTC21B	HP:0008897	Postnatal growth retardation	-	OMIM:615777
79809	TTC21B	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:474
79809	TTC21B	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
79809	TTC21B	HP:0001324	Muscle weakness	40/96	OMIM:131300
79809	TTC21B	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
79809	TTC21B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
79809	TTC21B	HP:0000007	Autosomal recessive inheritance	-	OMIM:613819
79809	TTC21B	HP:0000007	Autosomal recessive inheritance	-	OMIM:613820
79809	TTC21B	HP:0000006	Autosomal dominant inheritance	-	OMIM:613820
79809	TTC21B	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
79809	TTC21B	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:474
79809	TTC21B	HP:0002650	Scoliosis	1/2	OMIM:613819
79809	TTC21B	HP:0002650	Scoliosis	12/14	OMIM:131300
79809	TTC21B	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
79809	TTC21B	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:474
79809	TTC21B	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
79809	TTC21B	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
79809	TTC21B	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
79809	TTC21B	HP:0000175	Cleft palate	2/7	OMIM:615777
79809	TTC21B	HP:0000112	Nephropathy	HP:0040283	ORPHA:474
79809	TTC21B	HP:0001407	Hepatic cysts	1/2	OMIM:613819
79809	TTC21B	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:474
79809	TTC21B	HP:0003388	Easy fatigability	36/76	OMIM:131300
79809	TTC21B	HP:0010442	Polydactyly	1/2	OMIM:613819
79809	TTC21B	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
79809	TTC21B	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:474
79809	TTC21B	HP:0003510	Severe short stature	7/7	OMIM:615777
79809	TTC21B	HP:0002315	Headache	-	OMIM:131300
79809	TTC21B	HP:0004976	Knee dislocation	6/7	OMIM:615777
79809	TTC21B	HP:0009803	Short phalanx of finger	-	OMIM:615777
79809	TTC21B	HP:0009763	Limb pain	63/92	OMIM:131300
79809	TTC21B	HP:0003621	Juvenile onset	-	OMIM:131300
79809	TTC21B	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
79809	TTC21B	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
79809	TTC21B	HP:6001056	Out-toeing	-	OMIM:131300
79809	TTC21B	HP:0000651	Diplopia	-	OMIM:131300
79809	TTC21B	HP:0001956	Truncal obesity	2/7	OMIM:615777
79809	TTC21B	HP:0001903	Anemia	HP:0040283	OMIM:131300
79809	TTC21B	HP:0010049	Short metacarpal	-	OMIM:615777
79809	TTC21B	HP:0000678	Dental crowding	-	OMIM:615777
79809	TTC21B	HP:0000670	Carious teeth	-	OMIM:131300
79809	TTC21B	HP:0011304	Broad thumb	2/7	OMIM:615777
79809	TTC21B	HP:0000668	Hypodontia	-	OMIM:615777
79809	TTC21B	HP:0000664	Synophrys	-	OMIM:615777
79809	TTC21B	HP:0004322	Short stature	1/2	OMIM:613819
79809	TTC21B	HP:0004322	Short stature	HP:0040283	ORPHA:474
79809	TTC21B	HP:0004396	Poor appetite	-	OMIM:131300
79809	TTC21B	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
79809	TTC21B	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
79809	TTC21B	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
79809	TTC21B	HP:0003026	Short long bone	7/7	OMIM:615777
79809	TTC21B	HP:0003026	Short long bone	2/2	OMIM:613819
79809	TTC21B	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
79809	TTC21B	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:474
79809	TTC21B	HP:0000767	Pectus excavatum	2/7	OMIM:615777
79809	TTC21B	HP:0000766	Abnormal sternum morphology	HP:0040282	ORPHA:474
79809	TTC21B	HP:0000768	Pectus carinatum	1/7	OMIM:615777
79809	TTC21B	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
79809	TTC21B	HP:0000750	Delayed speech and language development	-	OMIM:615777
79809	TTC21B	HP:0011461	Fetal onset	7/7	OMIM:615777
79809	TTC21B	HP:0000774	Narrow chest	HP:0040281	ORPHA:474
79809	TTC21B	HP:0000774	Narrow chest	2/7	OMIM:615777
79809	TTC21B	HP:0000774	Narrow chest	2/2	OMIM:613819
79809	TTC21B	HP:0000926	Platyspondyly	1/7	OMIM:615777
79809	TTC21B	HP:0003180	Flat acetabular roof	-	OMIM:615777
79809	TTC21B	HP:0004482	Relative macrocephaly	-	OMIM:615777
79809	TTC21B	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
79809	TTC21B	HP:0000889	Abnormal clavicle morphology	HP:0040282	ORPHA:474
79809	TTC21B	HP:0000823	Delayed puberty	-	OMIM:131300
79809	TTC21B	HP:0000894	Short clavicles	-	OMIM:615777
79809	TTC21B	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
79809	TTC21B	HP:0010306	Short thorax	HP:0040281	ORPHA:474
79809	TTC21B	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
79809	TTC21B	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:474
79809	TTC21B	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:474
79809	TTC21B	HP:0000286	Epicanthus	1/7	OMIM:615777
79809	TTC21B	HP:0000280	Coarse facial features	2/7	OMIM:615777
79809	TTC21B	HP:0002827	Hip dislocation	3/7	OMIM:615777
79809	TTC21B	HP:0000252	Microcephaly	-	OMIM:615777
79809	TTC21B	HP:0002857	Genu valgum	-	OMIM:131300
79809	TTC21B	HP:0001533	Slender build	-	OMIM:131300
79809	TTC21B	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
79809	TTC21B	HP:0007807	Optic nerve compression	-	OMIM:131300
79809	TTC21B	HP:0012368	Flat face	7/7	OMIM:615777
79809	TTC21B	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
79809	TTC21B	HP:0000365	Hearing impairment	10/67	OMIM:131300
79809	TTC21B	HP:0000343	Long philtrum	1/7	OMIM:615777
79809	TTC21B	HP:0011001	Increased bone mineral density	-	OMIM:131300
79809	TTC21B	HP:0002983	Micromelia	HP:0040281	ORPHA:474
79809	TTC21B	HP:0000311	Round face	2/7	OMIM:615777
79809	TTC21B	HP:0002970	Genu varum	-	OMIM:615777
79809	TTC21B	HP:0000303	Mandibular prognathia	-	OMIM:131300
79809	TTC21B	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
79809	TTC21B	HP:0000470	Short neck	1/7	OMIM:615777
79809	TTC21B	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:474
79809	TTC21B	HP:0001773	Short foot	HP:0040282	ORPHA:474
79809	TTC21B	HP:0001769	Broad foot	HP:0040283	OMIM:615777
79809	TTC21B	HP:0001763	Pes planus	1/7	OMIM:615777
79809	TTC21B	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040283	ORPHA:474
79809	TTC21B	HP:0001840	Metatarsus adductus	-	OMIM:615777
79809	TTC21B	HP:0000520	Proptosis	2/4	OMIM:131300
79809	TTC21B	HP:0000520	Proptosis	7/7	OMIM:615777
79809	TTC21B	HP:0001830	Postaxial foot polydactyly	HP:0040283	ORPHA:474
79809	TTC21B	HP:0000592	Blue sclerae	2/7	OMIM:615777
79809	TTC21B	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
79809	TTC21B	HP:0012514	Lower limb pain	4/4	OMIM:131300
79813	EHMT1	HP:0001182	Tapered finger	HP:0040284	ORPHA:261652
79813	EHMT1	HP:0001156	Brachydactyly	-	OMIM:610253
79813	EHMT1	HP:0002463	Language impairment	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0007302	Bipolar affective disorder	3/104	OMIM:610253
79813	EHMT1	HP:0009909	Uplifted earlobe	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0010864	Intellectual disability, severe	-	OMIM:610253
79813	EHMT1	HP:0003745	Sporadic	-	OMIM:610253
79813	EHMT1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0001270	Motor delay	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0001250	Seizure	18/18	OMIM:610253
79813	EHMT1	HP:0001250	Seizure	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0001250	Seizure	HP:0040282	ORPHA:96147
79813	EHMT1	HP:0001252	Hypotonia	49/125	OMIM:610253
79813	EHMT1	HP:0001252	Hypotonia	HP:0040284	ORPHA:261652
79813	EHMT1	HP:0001252	Hypotonia	HP:0040281	ORPHA:96147
79813	EHMT1	HP:0001249	Intellectual disability	112/125	OMIM:610253
79813	EHMT1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:261652
79813	EHMT1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:96147
79813	EHMT1	HP:0001263	Global developmental delay	114/124	OMIM:610253
79813	EHMT1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:261652
79813	EHMT1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:96147
79813	EHMT1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:261652
79813	EHMT1	HP:0007359	Focal-onset seizure	3/3	OMIM:610253
79813	EHMT1	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/117	OMIM:610253
79813	EHMT1	HP:0002553	Highly arched eyebrow	HP:0040281	ORPHA:96147
79813	EHMT1	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0000098	Tall stature	8/111	OMIM:610253
79813	EHMT1	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:261652
79813	EHMT1	HP:0000074	Ureteropelvic junction obstruction	2/115	OMIM:610253
79813	EHMT1	HP:0000054	Micropenis	HP:0040282	OMIM:610253
79813	EHMT1	HP:0001382	Joint hypermobility	30/125	OMIM:610253
79813	EHMT1	HP:0000047	Hypospadias	1/115	OMIM:610253
79813	EHMT1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0000023	Inguinal hernia	4/115	OMIM:610253
79813	EHMT1	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0000035	Abnormal testis morphology	HP:0040282	ORPHA:96147
79813	EHMT1	HP:0001357	Plagiocephaly	HP:0040284	ORPHA:261652
79813	EHMT1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:96147
79813	EHMT1	HP:0000028	Cryptorchidism	2/115	OMIM:610253
79813	EHMT1	HP:0001331	Absent septum pellucidum	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0001328	Specific learning disability	HP:0040281	ORPHA:96147
79813	EHMT1	HP:0000010	Recurrent urinary tract infections	6/115	OMIM:610253
79813	EHMT1	HP:0001344	Absent speech	10/53	OMIM:610253
79813	EHMT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:610253
79813	EHMT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
79813	EHMT1	HP:0002650	Scoliosis	0/84	OMIM:610253
79813	EHMT1	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0000179	Thick lower lip vermilion	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0000164	Abnormality of the dentition	HP:0040284	ORPHA:261652
79813	EHMT1	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0000158	Macroglossia	HP:0040282	ORPHA:96147
79813	EHMT1	HP:0000158	Macroglossia	HP:0040282	OMIM:610253
79813	EHMT1	HP:0006335	Persistence of primary teeth	HP:0040283	OMIM:610253
79813	EHMT1	HP:0002779	Tracheomalacia	HP:0040284	ORPHA:261652
79813	EHMT1	HP:0002786	Tracheobronchomalacia	HP:0040284	OMIM:610253
79813	EHMT1	HP:0000126	Hydronephrosis	2/115	OMIM:610253
79813	EHMT1	HP:0000107	Renal cyst	2/115	OMIM:610253
79813	EHMT1	HP:0002719	Recurrent infections	52/56	OMIM:610253
79813	EHMT1	HP:0002719	Recurrent infections	HP:0040282	ORPHA:261652
79813	EHMT1	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:96147
79813	EHMT1	HP:0002023	Anal atresia	HP:0040284	ORPHA:261652
79813	EHMT1	HP:0002020	Gastroesophageal reflux	29/114	OMIM:610253
79813	EHMT1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0011800	Midface retrusion	HP:0040282	ORPHA:96147
79813	EHMT1	HP:0011800	Midface retrusion	-	OMIM:610253
79813	EHMT1	HP:0011800	Midface retrusion	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0100541	Femoral hernia	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0002069	Bilateral tonic-clonic seizure	7/7	OMIM:610253
79813	EHMT1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0033127	Abnormality of the musculoskeletal system	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:96147
79813	EHMT1	HP:0002121	Generalized non-motor (absence) seizure	4/117	OMIM:610253
79813	EHMT1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0002133	Status epilepticus	HP:0040282	ORPHA:96147
79813	EHMT1	HP:0002197	Generalized-onset seizure	3/3	OMIM:610253
79813	EHMT1	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0002171	Gliosis	HP:0040284	ORPHA:261652
79813	EHMT1	HP:0010529	Echolalia	HP:0040281	ORPHA:96147
79813	EHMT1	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0002205	Recurrent respiratory infections	HP:0040282	OMIM:610253
79813	EHMT1	HP:0007018	Attention deficit hyperactivity disorder	7/104	OMIM:610253
79813	EHMT1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0011968	Feeding difficulties	31/38	OMIM:610253
79813	EHMT1	HP:0002381	Aphasia	HP:0040281	ORPHA:96147
79813	EHMT1	HP:0002360	Sleep abnormality	HP:0040282	OMIM:610253
79813	EHMT1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0002376	Developmental regression	35/125	OMIM:610253
79813	EHMT1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6/118	OMIM:610253
79813	EHMT1	HP:0010819	Atonic seizure	2/117	OMIM:610253
79813	EHMT1	HP:0200005	Abnormal shape of the palpebral fissure	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0010808	Protruding tongue	HP:0040282	ORPHA:96147
79813	EHMT1	HP:0010808	Protruding tongue	HP:0040282	OMIM:610253
79813	EHMT1	HP:0010806	U-Shaped upper lip vermilion	HP:0040282	OMIM:610253
79813	EHMT1	HP:0033454	Tube feeding	9/104	OMIM:610253
79813	EHMT1	HP:0002300	Mutism	HP:0040281	ORPHA:96147
79813	EHMT1	HP:0004209	Clinodactyly of the 5th finger	3/125	OMIM:610253
79813	EHMT1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
79813	EHMT1	HP:0006863	Severe expressive language delay	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0011351	Moderate receptive language delay	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0000695	Natal tooth	HP:0040284	ORPHA:261652
79813	EHMT1	HP:0000695	Natal tooth	HP:0040283	OMIM:610253
79813	EHMT1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:261652
79813	EHMT1	HP:0000664	Synophrys	HP:0040282	OMIM:610253
79813	EHMT1	HP:0000664	Synophrys	HP:0040282	ORPHA:96147
79813	EHMT1	HP:0004322	Short stature	10/111	OMIM:610253
79813	EHMT1	HP:0004322	Short stature	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0000767	Pectus excavatum	8/125	OMIM:610253
79813	EHMT1	HP:0000737	Irritability	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0000739	Anxiety	26/104	OMIM:610253
79813	EHMT1	HP:0000739	Anxiety	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0000733	Motor stereotypy	18/114	OMIM:610253
79813	EHMT1	HP:0000750	Delayed speech and language development	HP:0040282	OMIM:610253
79813	EHMT1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0000741	Apathy	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0000741	Apathy	HP:0040284	OMIM:610253
79813	EHMT1	HP:0000742	Self-mutilation	10/104	OMIM:610253
79813	EHMT1	HP:0000716	Depression	9/104	OMIM:610253
79813	EHMT1	HP:0000716	Depression	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0000718	Aggressive behavior	27/104	OMIM:610253
79813	EHMT1	HP:0000717	Autism	HP:0040282	ORPHA:96147
79813	EHMT1	HP:0000717	Autism	55/104	OMIM:610253
79813	EHMT1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0000722	Compulsive behaviors	9/104	OMIM:610253
79813	EHMT1	HP:0000709	Psychosis	14/104	OMIM:610253
79813	EHMT1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:261652
79813	EHMT1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0003196	Short nose	HP:0040281	ORPHA:96147
79813	EHMT1	HP:0100308	Cerebral cortical hemiatrophy	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0004467	Preauricular pit	-	OMIM:187500
79813	EHMT1	HP:0000826	Precocious puberty	HP:0040284	ORPHA:261652
79813	EHMT1	HP:0011641	Coronary artery fistula	1/117	OMIM:610253
79813	EHMT1	HP:0000974	Hyperextensible skin	HP:0040284	ORPHA:261652
79813	EHMT1	HP:0000954	Single transverse palmar crease	-	OMIM:610253
79813	EHMT1	HP:0000280	Coarse facial features	HP:0040282	OMIM:610253
79813	EHMT1	HP:0000272	Malar flattening	HP:0040282	OMIM:610253
79813	EHMT1	HP:0002808	Kyphosis	5/125	OMIM:610253
79813	EHMT1	HP:0000252	Microcephaly	33/124	OMIM:610253
79813	EHMT1	HP:0000252	Microcephaly	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0000252	Microcephaly	HP:0040282	ORPHA:96147
79813	EHMT1	HP:0000248	Brachycephaly	HP:0040282	OMIM:610253
79813	EHMT1	HP:0000248	Brachycephaly	HP:0040284	ORPHA:261652
79813	EHMT1	HP:0000248	Brachycephaly	HP:0040281	ORPHA:96147
79813	EHMT1	HP:0001548	Overgrowth	HP:0040282	ORPHA:261652
79813	EHMT1	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:96147
79813	EHMT1	HP:0000232	Everted lower lip vermilion	HP:0040282	OMIM:610253
79813	EHMT1	HP:0025502	Overweight	39/109	OMIM:610253
79813	EHMT1	HP:0001537	Umbilical hernia	2/125	OMIM:610253
79813	EHMT1	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:261652
79813	EHMT1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0001520	Large for gestational age	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0001520	Large for gestational age	19/91	OMIM:610253
79813	EHMT1	HP:0001518	Small for gestational age	12/92	OMIM:610253
79813	EHMT1	HP:0001510	Growth delay	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0001513	Obesity	13/109	OMIM:610253
79813	EHMT1	HP:0001513	Obesity	HP:0040282	ORPHA:96147
79813	EHMT1	HP:0011097	Epileptic spasm	HP:0040282	ORPHA:96147
79813	EHMT1	HP:0012368	Flat face	-	OMIM:610253
79813	EHMT1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0000365	Hearing impairment	38/119	OMIM:610253
79813	EHMT1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:261652
79813	EHMT1	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:96147
79813	EHMT1	HP:0000337	Broad forehead	-	OMIM:187500
79813	EHMT1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:96147
79813	EHMT1	HP:0000316	Hypertelorism	HP:0040282	OMIM:610253
79813	EHMT1	HP:0001643	Patent ductus arteriosus	2/110	OMIM:610253
79813	EHMT1	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0001655	Patent foramen ovale	5/109	OMIM:610253
79813	EHMT1	HP:0001629	Ventricular septal defect	10/109	OMIM:610253
79813	EHMT1	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:261652
79813	EHMT1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
79813	EHMT1	HP:0001631	Atrial septal defect	16/23	OMIM:610253
79813	EHMT1	HP:0000303	Mandibular prognathia	HP:0040282	OMIM:610253
79813	EHMT1	HP:0006695	Atrioventricular canal defect	1/109	OMIM:610253
79813	EHMT1	HP:0001710	Conotruncal defect	-	OMIM:610253
79813	EHMT1	HP:0001710	Conotruncal defect	HP:0040283	ORPHA:96147
79813	EHMT1	HP:0000486	Strabismus	24/76	OMIM:610253
79813	EHMT1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:96147
79813	EHMT1	HP:0000463	Anteverted nares	HP:0040282	OMIM:610253
79813	EHMT1	HP:0012450	Chronic constipation	59/119	OMIM:610253
79813	EHMT1	HP:0001763	Pes planus	30/125	OMIM:610253
79813	EHMT1	HP:0001762	Talipes equinovarus	5/125	OMIM:610253
79813	EHMT1	HP:0005469	Flat occiput	HP:0040281	ORPHA:96147
79813	EHMT1	HP:0000519	Developmental cataract	HP:0040284	ORPHA:261652
79813	EHMT1	HP:0000520	Proptosis	-	OMIM:187500
79813	EHMT1	HP:0001822	Hallux valgus	4/125	OMIM:610253
79813	EHMT1	HP:0000582	Upslanted palpebral fissure	HP:0040282	OMIM:610253
79813	EHMT1	HP:0000540	Hypermetropia	41/41	OMIM:610253
79813	EHMT1	HP:0000540	Hypermetropia	HP:0040284	ORPHA:261652
79816	TLE6	HP:0008669	Abnormal spermatogenesis	-	ORPHA:488191
79816	TLE6	HP:0000007	Autosomal recessive inheritance	-	OMIM:616814
79816	TLE6	HP:0000147	Polycystic ovaries	-	ORPHA:488191
79816	TLE6	HP:0008222	Female infertility	HP:0040280	ORPHA:488191
79816	TLE6	HP:0008222	Female infertility	-	OMIM:616814
79816	TLE6	HP:0020155	Abnormal oocyte morphology	HP:0040283	ORPHA:488191
79816	TLE6	HP:0031515	Abnormal meiosis	HP:0040280	ORPHA:488191
79816	TLE6	HP:0031516	Oocyte arrest at metaphase I	HP:0040282	ORPHA:488191
79823	CAMKMT	HP:0001250	Seizure	HP:0040282	ORPHA:163693
79823	CAMKMT	HP:0001252	Hypotonia	HP:0040281	ORPHA:163693
79823	CAMKMT	HP:0001263	Global developmental delay	HP:0040281	ORPHA:163693
79823	CAMKMT	HP:0000135	Hypogonadism	HP:0040281	ORPHA:163693
79823	CAMKMT	HP:0002007	Frontal bossing	HP:0040281	ORPHA:163693
79823	CAMKMT	HP:0200125	Mitochondrial respiratory chain defects	HP:0040281	ORPHA:163693
79823	CAMKMT	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:163693
79823	CAMKMT	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:163693
79823	CAMKMT	HP:0000787	Nephrolithiasis	HP:0040281	ORPHA:163693
79823	CAMKMT	HP:0003131	Cystinuria	HP:0040281	ORPHA:163693
79823	CAMKMT	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:163693
79823	CAMKMT	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:163693
79823	CAMKMT	HP:0001508	Failure to thrive	HP:0040281	ORPHA:163693
79823	CAMKMT	HP:0001510	Growth delay	HP:0040281	ORPHA:163693
79823	CAMKMT	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:163693
79823	CAMKMT	HP:0002901	Hypocalcemia	HP:0040282	ORPHA:163693
79823	CAMKMT	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:163693
79823	CAMKMT	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:163693
79823	CAMKMT	HP:0000527	Long eyelashes	HP:0040281	ORPHA:163693
79827	CLMP	HP:0002587	Projectile vomiting	1/2	OMIM:615237
79827	CLMP	HP:0002570	Steatorrhea	-	OMIM:615237
79827	CLMP	HP:0002566	Intestinal malrotation	5/5	OMIM:615237
79827	CLMP	HP:0002566	Intestinal malrotation	HP:0040282	ORPHA:2301
79827	CLMP	HP:0000007	Autosomal recessive inheritance	-	OMIM:615237
79827	CLMP	HP:0002028	Chronic diarrhea	3/3	OMIM:615237
79827	CLMP	HP:0002013	Vomiting	1/1	OMIM:615237
79827	CLMP	HP:0030914	Abnormal peristalsis	-	OMIM:615237
79827	CLMP	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:2301
79827	CLMP	HP:0100578	Lipoatrophy	HP:0040282	ORPHA:2301
79827	CLMP	HP:0003593	Infantile onset	1/2	OMIM:615237
79827	CLMP	HP:0003577	Congenital onset	1/2	OMIM:615237
79827	CLMP	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:2301
79827	CLMP	HP:0001944	Dehydration	1/1	OMIM:615237
79827	CLMP	HP:0001942	Metabolic acidosis	3/3	OMIM:615237
79827	CLMP	HP:0001984	Intolerance to protein	1/1	OMIM:615237
79827	CLMP	HP:0004322	Short stature	HP:0040282	ORPHA:2301
79827	CLMP	HP:0030889	Congenital shortened small intestine	5/5	OMIM:615237
79827	CLMP	HP:0030897	Decreased intestinal transit time	-	OMIM:615237
79827	CLMP	HP:0003270	Abdominal distention	1/1	OMIM:615237
79827	CLMP	HP:0008070	Sparse hair	HP:0040282	ORPHA:2301
79827	CLMP	HP:0001508	Failure to thrive	3/3	OMIM:615237
79827	CLMP	HP:0005245	Intestinal hypoplasia	HP:0040281	ORPHA:2301
79827	CLMP	HP:0011100	Intestinal atresia	1/1	OMIM:615237
79840	NHEJ1	HP:0010976	Decreased total B cell count	HP:0040281	ORPHA:169079
79840	NHEJ1	HP:0002718	Recurrent bacterial infections	HP:0040283	ORPHA:169079
79840	NHEJ1	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:169079
79840	NHEJ1	HP:0001903	Anemia	HP:0040282	ORPHA:169079
79840	NHEJ1	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:169079
79840	NHEJ1	HP:0004429	Recurrent viral infections	HP:0040283	ORPHA:169079
79840	NHEJ1	HP:0000252	Microcephaly	HP:0040281	ORPHA:169079
79840	NHEJ1	HP:0001510	Growth delay	HP:0040281	ORPHA:169079
79840	NHEJ1	HP:0000340	Sloping forehead	HP:0040281	ORPHA:169079
79840	NHEJ1	HP:0000320	Bird-like facies	HP:0040281	ORPHA:169079
79840	NHEJ1	HP:0002960	Autoimmunity	HP:0040283	ORPHA:169079
79840	NHEJ1	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:169079
79840	NHEJ1	HP:0000414	Bulbous nose	HP:0040281	ORPHA:169079
79840	NHEJ1	HP:0005403	Decreased total T cell count	HP:0040281	ORPHA:169079
79840	NHEJ1	HP:0001888	Decreased total lymphocyte count	HP:0040281	ORPHA:169079
79840	NHEJ1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:169079
79846	CFAP69	HP:0000007	Autosomal recessive inheritance	-	OMIM:617959
79846	CFAP69	HP:0032559	Short sperm flagella	-	OMIM:617959
79846	CFAP69	HP:0032560	Coiled sperm flagella	-	OMIM:617959
79846	CFAP69	HP:0032561	Microcephalic sperm head	-	OMIM:617959
79846	CFAP69	HP:0032562	Tapered sperm head	-	OMIM:617959
79846	CFAP69	HP:0012207	Reduced sperm motility	2/2	OMIM:617959
79848	CSPP1	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:564
79848	CSPP1	HP:0001156	Brachydactyly	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:564
79848	CSPP1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
79848	CSPP1	HP:0100954	Open operculum	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
79848	CSPP1	HP:0002435	Meningocele	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0009932	Single naris	HP:0040283	OMIM:615636
79848	CSPP1	HP:0009921	Duane anomaly	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0002419	Molar tooth sign on MRI	HP:0040282	ORPHA:397715
79848	CSPP1	HP:0007291	Posterior fossa cyst	-	OMIM:615636
79848	CSPP1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:397715
79848	CSPP1	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
79848	CSPP1	HP:0001250	Seizure	1/18	OMIM:615636
79848	CSPP1	HP:0001250	Seizure	HP:0040283	ORPHA:475
79848	CSPP1	HP:0001252	Hypotonia	-	OMIM:615636
79848	CSPP1	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
79848	CSPP1	HP:0001251	Ataxia	-	OMIM:615636
79848	CSPP1	HP:0001251	Ataxia	HP:0040281	ORPHA:475
79848	CSPP1	HP:0001249	Intellectual disability	-	OMIM:615636
79848	CSPP1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
79848	CSPP1	HP:0001263	Global developmental delay	19/19	OMIM:615636
79848	CSPP1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
79848	CSPP1	HP:0002558	Supernumerary nipple	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
79848	CSPP1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:564
79848	CSPP1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
79848	CSPP1	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000068	Urethral atresia	HP:0040283	ORPHA:564
79848	CSPP1	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:564
79848	CSPP1	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:564
79848	CSPP1	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:564
79848	CSPP1	HP:0000047	Hypospadias	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:564
79848	CSPP1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
79848	CSPP1	HP:0008797	Early ossification of capital femoral epiphyses	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0001331	Absent septum pellucidum	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0001344	Absent speech	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
79848	CSPP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615636
79848	CSPP1	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:564
79848	CSPP1	HP:0001337	Tremor	HP:0040283	ORPHA:475
79848	CSPP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
79848	CSPP1	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:564
79848	CSPP1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
79848	CSPP1	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
79848	CSPP1	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:397715
79848	CSPP1	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:564
79848	CSPP1	HP:0000175	Cleft palate	HP:0040282	ORPHA:564
79848	CSPP1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
79848	CSPP1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
79848	CSPP1	HP:0012106	Rhizomelic leg shortening	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
79848	CSPP1	HP:0002789	Tachypnea	HP:0040282	ORPHA:397715
79848	CSPP1	HP:0000110	Renal dysplasia	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000107	Renal cyst	HP:0040283	OMIM:615636
79848	CSPP1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0005989	Redundant neck skin	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0002015	Dysphagia	1/19	OMIM:615636
79848	CSPP1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:397715
79848	CSPP1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
79848	CSPP1	HP:0004629	Small cervical vertebral bodies	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0002089	Pulmonary hypoplasia	4/19	OMIM:615636
79848	CSPP1	HP:0002085	Occipital encephalocele	HP:0040283	OMIM:615636
79848	CSPP1	HP:0002085	Occipital encephalocele	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
79848	CSPP1	HP:0002084	Encephalocele	1/18	OMIM:615636
79848	CSPP1	HP:0002084	Encephalocele	HP:0040281	ORPHA:564
79848	CSPP1	HP:0002094	Dyspnea	-	OMIM:615636
79848	CSPP1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:615636
79848	CSPP1	HP:0010459	True hermaphroditism	HP:0040283	ORPHA:564
79848	CSPP1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:397715
79848	CSPP1	HP:0002134	Abnormal basal ganglia morphology	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
79848	CSPP1	HP:0002100	Recurrent aspiration pneumonia	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0002104	Apnea	-	OMIM:615636
79848	CSPP1	HP:0002104	Apnea	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0002104	Apnea	HP:0040281	ORPHA:475
79848	CSPP1	HP:0003411	Proximal femoral metaphyseal irregularity	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0011933	Elongated superior cerebellar peduncle	HP:0040282	ORPHA:397715
79848	CSPP1	HP:0011933	Elongated superior cerebellar peduncle	0/10	OMIM:615636
79848	CSPP1	HP:0011927	Short digit	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0002195	Dysgenesis of the cerebellar vermis	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0004719	Hyperechogenic kidneys	HP:0040283	OMIM:615636
79848	CSPP1	HP:0004719	Hyperechogenic kidneys	HP:0040282	ORPHA:397715
79848	CSPP1	HP:0010579	Cone-shaped epiphysis	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
79848	CSPP1	HP:0003577	Congenital onset	-	OMIM:615636
79848	CSPP1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
79848	CSPP1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0100732	Pancreatic fibrosis	HP:0040283	ORPHA:564
79848	CSPP1	HP:0002280	Enlarged cisterna magna	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0007082	Dilated third ventricle	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0002365	Hypoplasia of the brainstem	-	OMIM:615636
79848	CSPP1	HP:0002323	Anencephaly	HP:0040283	ORPHA:564
79848	CSPP1	HP:0004991	Rhizomelic arm shortening	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0008445	Cervical spinal canal stenosis	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0003621	Juvenile onset	8/19	OMIM:180100
79848	CSPP1	HP:0006870	Lobar holoprosencephaly	HP:0040282	ORPHA:564
79848	CSPP1	HP:0000639	Nystagmus	6/18	OMIM:615636
79848	CSPP1	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
79848	CSPP1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:564
79848	CSPP1	HP:0000648	Optic atrophy	1/19	OMIM:615636
79848	CSPP1	HP:0000647	Sclerocornea	HP:0040282	ORPHA:564
79848	CSPP1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
79848	CSPP1	HP:0010013	Abnormal 5th metacarpal morphology	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000662	Nyctalopia	26/28	OMIM:180100
79848	CSPP1	HP:0000657	Oculomotor apraxia	4/18	OMIM:615636
79848	CSPP1	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:397715
79848	CSPP1	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
79848	CSPP1	HP:0004322	Short stature	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
79848	CSPP1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:564
79848	CSPP1	HP:0000803	Renal cortical cysts	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0012795	Abnormal optic disc morphology	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0011463	Childhood onset	3/19	OMIM:180100
79848	CSPP1	HP:0011462	Young adult onset	8/19	OMIM:180100
79848	CSPP1	HP:0000773	Short ribs	4/19	OMIM:615636
79848	CSPP1	HP:0000773	Short ribs	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
79848	CSPP1	HP:0003170	Abnormal acetabulum morphology	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000890	Long clavicles	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
79848	CSPP1	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:564
79848	CSPP1	HP:0034302	Megalopapilla	1/19	OMIM:615636
79848	CSPP1	HP:0100259	Postaxial polydactyly	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040282	ORPHA:564
79848	CSPP1	HP:0000286	Epicanthus	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000293	Full cheeks	HP:0040282	ORPHA:564
79848	CSPP1	HP:0001591	Bell-shaped thorax	4/19	OMIM:615636
79848	CSPP1	HP:0001591	Bell-shaped thorax	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000276	Long face	HP:0040282	ORPHA:475
79848	CSPP1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
79848	CSPP1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
79848	CSPP1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:564
79848	CSPP1	HP:0000252	Microcephaly	HP:0040281	ORPHA:564
79848	CSPP1	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:564
79848	CSPP1	HP:0002878	Respiratory failure	2/19	OMIM:615636
79848	CSPP1	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
79848	CSPP1	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:564
79848	CSPP1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
79848	CSPP1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:397715
79848	CSPP1	HP:0030048	Colpocephaly	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
79848	CSPP1	HP:0031528	Subretinal deposits	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000396	Overfolded helix	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0005257	Thoracic hypoplasia	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0006528	Chronic lung disease	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:564
79848	CSPP1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
79848	CSPP1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:564
79848	CSPP1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:564
79848	CSPP1	HP:0000369	Low-set ears	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
79848	CSPP1	HP:0000340	Sloping forehead	HP:0040282	ORPHA:564
79848	CSPP1	HP:0000347	Micrognathia	HP:0040282	ORPHA:564
79848	CSPP1	HP:0000347	Micrognathia	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:564
79848	CSPP1	HP:0000316	Hypertelorism	4/19	OMIM:615636
79848	CSPP1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0006610	Wide intermamillary distance	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0006668	Twelfth rib hypoplasia	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000407	Sensorineural hearing impairment	2/19	OMIM:615636
79848	CSPP1	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:564
79848	CSPP1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000486	Strabismus	-	OMIM:615636
79848	CSPP1	HP:0000486	Strabismus	HP:0040283	ORPHA:475
79848	CSPP1	HP:0000482	Microcornea	HP:0040282	ORPHA:564
79848	CSPP1	HP:0000488	Retinopathy	HP:0040283	OMIM:615636
79848	CSPP1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
79848	CSPP1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:564
79848	CSPP1	HP:0011109	Chronic sinusitis	2/19	OMIM:615636
79848	CSPP1	HP:0001746	Asplenia	HP:0040283	ORPHA:564
79848	CSPP1	HP:0001747	Accessory spleen	HP:0040283	ORPHA:564
79848	CSPP1	HP:0001744	Splenomegaly	1/19	OMIM:615636
79848	CSPP1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
79848	CSPP1	HP:0006706	Cystic liver disease	HP:0040283	ORPHA:564
79848	CSPP1	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000518	Cataract	HP:0040282	ORPHA:564
79848	CSPP1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
79848	CSPP1	HP:0000528	Anophthalmia	HP:0040283	OMIM:615636
79848	CSPP1	HP:0000528	Anophthalmia	HP:0040283	ORPHA:564
79848	CSPP1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
79848	CSPP1	HP:0000508	Ptosis	15/18	OMIM:615636
79848	CSPP1	HP:0000508	Ptosis	HP:0040283	ORPHA:475
79848	CSPP1	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:564
79848	CSPP1	HP:0000575	Scotoma	5/18	OMIM:180100
79848	CSPP1	HP:0000556	Retinal dystrophy	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000572	Visual loss	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:564
79848	CSPP1	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:564
79848	CSPP1	HP:0001883	Talipes	HP:0040282	ORPHA:564
79848	CSPP1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
79848	CSPP1	HP:0000545	Myopia	HP:0040283	ORPHA:397715
79848	CSPP1	HP:0000545	Myopia	-	OMIM:180100
79853	TM4SF20	HP:0002463	Language impairment	-	OMIM:615432
79853	TM4SF20	HP:0001263	Global developmental delay	4/15	OMIM:615432
79853	TM4SF20	HP:0003829	Typified by incomplete penetrance	-	OMIM:615432
79853	TM4SF20	HP:0000006	Autosomal dominant inheritance	-	OMIM:615432
79853	TM4SF20	HP:0000750	Delayed speech and language development	26/26	OMIM:615432
79853	TM4SF20	HP:0000729	Autistic behavior	4/15	OMIM:615432
79853	TM4SF20	HP:0030890	Hyperintensity of cerebral white matter on MRI	22/31	OMIM:615432
79867	TCTN2	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:564
79867	TCTN2	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:564
79867	TCTN2	HP:0001162	Postaxial hand polydactyly	1/1	OMIM:616654
79867	TCTN2	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
79867	TCTN2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
79867	TCTN2	HP:0001293	Cranial nerve compression	-	OMIM:131300
79867	TCTN2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
79867	TCTN2	HP:0001288	Gait disturbance	1/1	OMIM:616654
79867	TCTN2	HP:0001250	Seizure	HP:0040283	ORPHA:475
79867	TCTN2	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
79867	TCTN2	HP:0001252	Hypotonia	2/7	OMIM:615777
79867	TCTN2	HP:0001252	Hypotonia	1/1	OMIM:616654
79867	TCTN2	HP:0001251	Ataxia	HP:0040281	ORPHA:475
79867	TCTN2	HP:0001251	Ataxia	1/1	OMIM:616654
79867	TCTN2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
79867	TCTN2	HP:0001249	Intellectual disability	5/7	OMIM:615777
79867	TCTN2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
79867	TCTN2	HP:0001263	Global developmental delay	-	OMIM:615777
79867	TCTN2	HP:0001263	Global developmental delay	1/1	OMIM:616654
79867	TCTN2	HP:0001257	Spasticity	1/1	OMIM:616654
79867	TCTN2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
79867	TCTN2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:564
79867	TCTN2	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
79867	TCTN2	HP:0002515	Waddling gait	54/102	OMIM:131300
79867	TCTN2	HP:0000068	Urethral atresia	HP:0040283	ORPHA:564
79867	TCTN2	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:564
79867	TCTN2	HP:0000062	Ambiguous genitalia	1/5	OMIM:613885
79867	TCTN2	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:564
79867	TCTN2	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:564
79867	TCTN2	HP:0001382	Joint hypermobility	-	OMIM:615777
79867	TCTN2	HP:0001347	Hyperreflexia	1/1	OMIM:616654
79867	TCTN2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
79867	TCTN2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:564
79867	TCTN2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
79867	TCTN2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
79867	TCTN2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
79867	TCTN2	HP:0001324	Muscle weakness	40/96	OMIM:131300
79867	TCTN2	HP:0001344	Absent speech	-	OMIM:616654
79867	TCTN2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
79867	TCTN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
79867	TCTN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613885
79867	TCTN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616654
79867	TCTN2	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:564
79867	TCTN2	HP:0001337	Tremor	HP:0040283	ORPHA:475
79867	TCTN2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
79867	TCTN2	HP:0001310	Dysmetria	-	OMIM:616654
79867	TCTN2	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:564
79867	TCTN2	HP:0001302	Pachygyria	1/1	OMIM:616654
79867	TCTN2	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
79867	TCTN2	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
79867	TCTN2	HP:0002650	Scoliosis	12/14	OMIM:131300
79867	TCTN2	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:616654
79867	TCTN2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
79867	TCTN2	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:564
79867	TCTN2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
79867	TCTN2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
79867	TCTN2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
79867	TCTN2	HP:0000175	Cleft palate	HP:0040282	ORPHA:564
79867	TCTN2	HP:0000175	Cleft palate	1/5	OMIM:613885
79867	TCTN2	HP:0000175	Cleft palate	2/7	OMIM:615777
79867	TCTN2	HP:0000113	Polycystic kidney dysplasia	2/5	OMIM:613885
79867	TCTN2	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
79867	TCTN2	HP:0000105	Enlarged kidney	1/5	OMIM:613885
79867	TCTN2	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
79867	TCTN2	HP:0002085	Occipital encephalocele	3/5	OMIM:613885
79867	TCTN2	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
79867	TCTN2	HP:0002084	Encephalocele	HP:0040281	ORPHA:564
79867	TCTN2	HP:0002084	Encephalocele	5/5	OMIM:613885
79867	TCTN2	HP:0003388	Easy fatigability	36/76	OMIM:131300
79867	TCTN2	HP:0010442	Polydactyly	5/5	OMIM:613885
79867	TCTN2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
79867	TCTN2	HP:0010459	True hermaphroditism	HP:0040283	ORPHA:564
79867	TCTN2	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
79867	TCTN2	HP:0002126	Polymicrogyria	1/1	OMIM:616654
79867	TCTN2	HP:0002104	Apnea	HP:0040281	ORPHA:475
79867	TCTN2	HP:0004719	Hyperechogenic kidneys	1/5	OMIM:613885
79867	TCTN2	HP:0003593	Infantile onset	-	OMIM:616654
79867	TCTN2	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
79867	TCTN2	HP:0003577	Congenital onset	5/5	OMIM:613885
79867	TCTN2	HP:0003577	Congenital onset	1/1	OMIM:616654
79867	TCTN2	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
79867	TCTN2	HP:0100732	Pancreatic fibrosis	HP:0040283	ORPHA:564
79867	TCTN2	HP:0003510	Severe short stature	7/7	OMIM:615777
79867	TCTN2	HP:0002323	Anencephaly	HP:0040283	ORPHA:564
79867	TCTN2	HP:0002315	Headache	-	OMIM:131300
79867	TCTN2	HP:0004976	Knee dislocation	6/7	OMIM:615777
79867	TCTN2	HP:0009803	Short phalanx of finger	-	OMIM:615777
79867	TCTN2	HP:0009763	Limb pain	63/92	OMIM:131300
79867	TCTN2	HP:0003621	Juvenile onset	-	OMIM:131300
79867	TCTN2	HP:0006870	Lobar holoprosencephaly	HP:0040282	ORPHA:564
79867	TCTN2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
79867	TCTN2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
79867	TCTN2	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
79867	TCTN2	HP:0000639	Nystagmus	1/1	OMIM:616654
79867	TCTN2	HP:6001056	Out-toeing	-	OMIM:131300
79867	TCTN2	HP:0000651	Diplopia	-	OMIM:131300
79867	TCTN2	HP:0000648	Optic atrophy	HP:0040282	ORPHA:564
79867	TCTN2	HP:0000647	Sclerocornea	HP:0040282	ORPHA:564
79867	TCTN2	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
79867	TCTN2	HP:0001956	Truncal obesity	2/7	OMIM:615777
79867	TCTN2	HP:0001903	Anemia	HP:0040283	OMIM:131300
79867	TCTN2	HP:0010049	Short metacarpal	-	OMIM:615777
79867	TCTN2	HP:0000678	Dental crowding	-	OMIM:615777
79867	TCTN2	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
79867	TCTN2	HP:0000670	Carious teeth	-	OMIM:131300
79867	TCTN2	HP:0011304	Broad thumb	2/7	OMIM:615777
79867	TCTN2	HP:0000668	Hypodontia	-	OMIM:615777
79867	TCTN2	HP:0000664	Synophrys	-	OMIM:615777
79867	TCTN2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
79867	TCTN2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:564
79867	TCTN2	HP:0004396	Poor appetite	-	OMIM:131300
79867	TCTN2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
79867	TCTN2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
79867	TCTN2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
79867	TCTN2	HP:0003026	Short long bone	7/7	OMIM:615777
79867	TCTN2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
79867	TCTN2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
79867	TCTN2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
79867	TCTN2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
79867	TCTN2	HP:0000750	Delayed speech and language development	-	OMIM:615777
79867	TCTN2	HP:0011461	Fetal onset	7/7	OMIM:615777
79867	TCTN2	HP:0000774	Narrow chest	1/5	OMIM:613885
79867	TCTN2	HP:0000774	Narrow chest	2/7	OMIM:615777
79867	TCTN2	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
79867	TCTN2	HP:0003196	Short nose	1/5	OMIM:613885
79867	TCTN2	HP:0000926	Platyspondyly	1/7	OMIM:615777
79867	TCTN2	HP:0003180	Flat acetabular roof	-	OMIM:615777
79867	TCTN2	HP:0004482	Relative macrocephaly	-	OMIM:615777
79867	TCTN2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
79867	TCTN2	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
79867	TCTN2	HP:0000823	Delayed puberty	-	OMIM:131300
79867	TCTN2	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:564
79867	TCTN2	HP:0000894	Short clavicles	-	OMIM:615777
79867	TCTN2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
79867	TCTN2	HP:0003270	Abdominal distention	2/5	OMIM:613885
79867	TCTN2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
79867	TCTN2	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040282	ORPHA:564
79867	TCTN2	HP:0000286	Epicanthus	1/7	OMIM:615777
79867	TCTN2	HP:0000280	Coarse facial features	2/7	OMIM:615777
79867	TCTN2	HP:0000293	Full cheeks	HP:0040282	ORPHA:564
79867	TCTN2	HP:0000276	Long face	HP:0040282	ORPHA:475
79867	TCTN2	HP:0002827	Hip dislocation	3/7	OMIM:615777
79867	TCTN2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
79867	TCTN2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:564
79867	TCTN2	HP:0000252	Microcephaly	1/5	OMIM:613885
79867	TCTN2	HP:0000252	Microcephaly	HP:0040281	ORPHA:564
79867	TCTN2	HP:0000252	Microcephaly	-	OMIM:615777
79867	TCTN2	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:564
79867	TCTN2	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
79867	TCTN2	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:564
79867	TCTN2	HP:0002857	Genu valgum	-	OMIM:131300
79867	TCTN2	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
79867	TCTN2	HP:0001533	Slender build	-	OMIM:131300
79867	TCTN2	HP:0000204	Cleft upper lip	1/5	OMIM:613885
79867	TCTN2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
79867	TCTN2	HP:0007807	Optic nerve compression	-	OMIM:131300
79867	TCTN2	HP:0012368	Flat face	7/7	OMIM:615777
79867	TCTN2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
79867	TCTN2	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:564
79867	TCTN2	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
79867	TCTN2	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:564
79867	TCTN2	HP:0000365	Hearing impairment	10/67	OMIM:131300
79867	TCTN2	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:564
79867	TCTN2	HP:0001698	Pericardial effusion	1/5	OMIM:613885
79867	TCTN2	HP:0000369	Low-set ears	1/5	OMIM:613885
79867	TCTN2	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
79867	TCTN2	HP:0000340	Sloping forehead	HP:0040282	ORPHA:564
79867	TCTN2	HP:0000343	Long philtrum	1/7	OMIM:615777
79867	TCTN2	HP:0011001	Increased bone mineral density	-	OMIM:131300
79867	TCTN2	HP:0000337	Broad forehead	1/5	OMIM:613885
79867	TCTN2	HP:0000347	Micrognathia	HP:0040282	ORPHA:564
79867	TCTN2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:564
79867	TCTN2	HP:0000311	Round face	2/7	OMIM:615777
79867	TCTN2	HP:0002970	Genu varum	-	OMIM:615777
79867	TCTN2	HP:0000303	Mandibular prognathia	-	OMIM:131300
79867	TCTN2	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:564
79867	TCTN2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
79867	TCTN2	HP:0000486	Strabismus	HP:0040283	ORPHA:475
79867	TCTN2	HP:0000482	Microcornea	HP:0040282	ORPHA:564
79867	TCTN2	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
79867	TCTN2	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:564
79867	TCTN2	HP:0000457	Depressed nasal ridge	1/5	OMIM:613885
79867	TCTN2	HP:0000470	Short neck	1/5	OMIM:613885
79867	TCTN2	HP:0000470	Short neck	1/7	OMIM:615777
79867	TCTN2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
79867	TCTN2	HP:0001763	Pes planus	1/7	OMIM:615777
79867	TCTN2	HP:0001746	Asplenia	HP:0040283	ORPHA:564
79867	TCTN2	HP:0001747	Accessory spleen	HP:0040283	ORPHA:564
79867	TCTN2	HP:0001762	Talipes equinovarus	1/5	OMIM:613885
79867	TCTN2	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:616654
79867	TCTN2	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
79867	TCTN2	HP:0025700	Anhydramnios	1/5	OMIM:613885
79867	TCTN2	HP:0006706	Cystic liver disease	HP:0040283	ORPHA:564
79867	TCTN2	HP:0000518	Cataract	HP:0040282	ORPHA:564
79867	TCTN2	HP:0001840	Metatarsus adductus	-	OMIM:615777
79867	TCTN2	HP:0000528	Anophthalmia	HP:0040283	ORPHA:564
79867	TCTN2	HP:0000528	Anophthalmia	1/5	OMIM:613885
79867	TCTN2	HP:0000520	Proptosis	2/4	OMIM:131300
79867	TCTN2	HP:0000520	Proptosis	7/7	OMIM:615777
79867	TCTN2	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
79867	TCTN2	HP:0000508	Ptosis	HP:0040283	ORPHA:475
79867	TCTN2	HP:0001830	Postaxial foot polydactyly	1/1	OMIM:616654
79867	TCTN2	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:564
79867	TCTN2	HP:0000592	Blue sclerae	2/7	OMIM:615777
79867	TCTN2	HP:0000568	Microphthalmia	1/5	OMIM:613885
79867	TCTN2	HP:0000568	Microphthalmia	HP:0040282	ORPHA:564
79867	TCTN2	HP:0000540	Hypermetropia	1/1	OMIM:616654
79867	TCTN2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
79867	TCTN2	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:564
79867	TCTN2	HP:0001883	Talipes	HP:0040282	ORPHA:564
79867	TCTN2	HP:0012514	Lower limb pain	4/4	OMIM:131300
79868	ALG13	HP:0001181	Adducted thumb	HP:0040283	ORPHA:324422
79868	ALG13	HP:0007256	Abnormal pyramidal sign	1/1	OMIM:300884
79868	ALG13	HP:0010864	Intellectual disability, severe	1/1	OMIM:300884
79868	ALG13	HP:0002421	Poor head control	HP:0040283	ORPHA:324422
79868	ALG13	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:324422
79868	ALG13	HP:0001250	Seizure	2/2	OMIM:300884
79868	ALG13	HP:0001252	Hypotonia	1/1	OMIM:300884
79868	ALG13	HP:0001263	Global developmental delay	4/4	OMIM:300884
79868	ALG13	HP:0002521	Hypsarrhythmia	3/3	OMIM:300884
79868	ALG13	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:324422
79868	ALG13	HP:0001371	Flexion contracture	1/1	OMIM:300884
79868	ALG13	HP:0002650	Scoliosis	1/1	OMIM:300884
79868	ALG13	HP:0001417	X-linked inheritance	-	OMIM:300884
79868	ALG13	HP:0002719	Recurrent infections	1/1	OMIM:300884
79868	ALG13	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:324422
79868	ALG13	HP:0002071	Abnormality of extrapyramidal motor function	1/1	OMIM:300884
79868	ALG13	HP:0002059	Cerebral atrophy	1/1	OMIM:300884
79868	ALG13	HP:0002188	Delayed CNS myelination	1/1	OMIM:300884
79868	ALG13	HP:0003593	Infantile onset	4/4	OMIM:300884
79868	ALG13	HP:0002240	Hepatomegaly	1/1	OMIM:300884
79868	ALG13	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:324422
79868	ALG13	HP:0011968	Feeding difficulties	1/1	OMIM:300884
79868	ALG13	HP:0002360	Sleep abnormality	1/1	OMIM:300884
79868	ALG13	HP:0003645	Prolonged partial thromboplastin time	1/1	OMIM:300884
79868	ALG13	HP:0010819	Atonic seizure	1/2	OMIM:300884
79868	ALG13	HP:0200055	Small hand	1/1	OMIM:300884
79868	ALG13	HP:0003642	Type I transferrin isoform profile	1/1	OMIM:300884
79868	ALG13	HP:0002312	Clumsiness	HP:0040283	ORPHA:324422
79868	ALG13	HP:0000639	Nystagmus	HP:0040283	ORPHA:324422
79868	ALG13	HP:0000648	Optic atrophy	1/1	OMIM:300884
79868	ALG13	HP:0000666	Horizontal nystagmus	1/1	OMIM:300884
79868	ALG13	HP:0004325	Decreased body weight	HP:0040283	ORPHA:324422
79868	ALG13	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:324422
79868	ALG13	HP:0000742	Self-mutilation	1/1	OMIM:300884
79868	ALG13	HP:0000717	Autism	HP:0040283	ORPHA:324422
79868	ALG13	HP:0000817	Reduced eye contact	-	OMIM:300884
79868	ALG13	HP:0000817	Reduced eye contact	HP:0040283	ORPHA:324422
79868	ALG13	HP:0000280	Coarse facial features	1/1	OMIM:300884
79868	ALG13	HP:0000256	Macrocephaly	1/1	OMIM:300884
79868	ALG13	HP:0000238	Hydrocephalus	1/1	OMIM:300884
79868	ALG13	HP:0000252	Microcephaly	1/1	OMIM:300884
79868	ALG13	HP:0030047	Abnormal lateral ventricle morphology	HP:0040283	ORPHA:324422
79868	ALG13	HP:0000369	Low-set ears	1/1	OMIM:300884
79868	ALG13	HP:0000343	Long philtrum	HP:0040282	ORPHA:324422
79868	ALG13	HP:0032792	Tonic seizure	1/2	OMIM:300884
79868	ALG13	HP:0032794	Myoclonic seizure	1/2	OMIM:300884
79868	ALG13	HP:0000316	Hypertelorism	HP:0040283	ORPHA:324422
79868	ALG13	HP:0000316	Hypertelorism	1/1	OMIM:300884
79868	ALG13	HP:0000331	Short chin	HP:0040283	ORPHA:324422
79868	ALG13	HP:0000308	Microretrognathia	1/1	OMIM:300884
79868	ALG13	HP:0012469	Infantile spasms	3/3	OMIM:300884
79868	ALG13	HP:0012469	Infantile spasms	HP:0040280	ORPHA:324422
79868	ALG13	HP:0000463	Anteverted nares	HP:0040283	ORPHA:324422
79868	ALG13	HP:0000463	Anteverted nares	-	OMIM:300884
79868	ALG13	HP:0012443	Abnormal brain morphology	HP:0040283	ORPHA:324422
79868	ALG13	HP:0001892	Abnormal bleeding	1/1	OMIM:300884
79875	THSD4	HP:0009901	Crumpled ear	90/119	OMIM:121050
79875	THSD4	HP:0001181	Adducted thumb	42/90	OMIM:121050
79875	THSD4	HP:0001166	Arachnodactyly	104/124	OMIM:121050
79875	THSD4	HP:0001166	Arachnodactyly	124/197	OMIM:154700
79875	THSD4	HP:0001166	Arachnodactyly	34/37	OMIM:182212
79875	THSD4	HP:0001166	Arachnodactyly	6/15	OMIM:208050
79875	THSD4	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:91387
79875	THSD4	HP:0003745	Sporadic	-	OMIM:182212
79875	THSD4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
79875	THSD4	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
79875	THSD4	HP:0001297	Stroke	HP:0040283	ORPHA:91387
79875	THSD4	HP:0001290	Generalized hypotonia	-	OMIM:208050
79875	THSD4	HP:0001290	Generalized hypotonia	-	OMIM:182212
79875	THSD4	HP:0001270	Motor delay	-	OMIM:121050
79875	THSD4	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
79875	THSD4	HP:0001252	Hypotonia	26/37	OMIM:182212
79875	THSD4	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
79875	THSD4	HP:0001249	Intellectual disability	-	OMIM:182212
79875	THSD4	HP:0001263	Global developmental delay	-	OMIM:182212
79875	THSD4	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
79875	THSD4	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
79875	THSD4	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
79875	THSD4	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
79875	THSD4	HP:0000098	Tall stature	-	OMIM:154700
79875	THSD4	HP:0000098	Tall stature	HP:0040283	ORPHA:91387
79875	THSD4	HP:0001377	Limited elbow extension	94/109	OMIM:121050
79875	THSD4	HP:0001377	Limited elbow extension	29/199	OMIM:154700
79875	THSD4	HP:0001371	Flexion contracture	-	OMIM:208050
79875	THSD4	HP:0001371	Flexion contracture	-	OMIM:154700
79875	THSD4	HP:0001369	Arthritis	2/8	OMIM:619825
79875	THSD4	HP:0001382	Joint hypermobility	1/1	OMIM:130050
79875	THSD4	HP:0001382	Joint hypermobility	12/14	OMIM:208050
79875	THSD4	HP:0001382	Joint hypermobility	11/53	OMIM:154700
79875	THSD4	HP:0001382	Joint hypermobility	31/47	OMIM:182212
79875	THSD4	HP:0002686	Pregnancy history	HP:0040283	ORPHA:91387
79875	THSD4	HP:0000023	Inguinal hernia	11/11	OMIM:130050
79875	THSD4	HP:0000023	Inguinal hernia	8/15	OMIM:208050
79875	THSD4	HP:0000023	Inguinal hernia	19/34	OMIM:182212
79875	THSD4	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:91387
79875	THSD4	HP:0001363	Craniosynostosis	18/37	OMIM:182212
79875	THSD4	HP:0000028	Cryptorchidism	1/1	OMIM:130050
79875	THSD4	HP:0000028	Cryptorchidism	1/13	OMIM:182212
79875	THSD4	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
79875	THSD4	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
79875	THSD4	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
79875	THSD4	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
79875	THSD4	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
79875	THSD4	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
79875	THSD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
79875	THSD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
79875	THSD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
79875	THSD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:619825
79875	THSD4	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
79875	THSD4	HP:0002650	Scoliosis	16/53	OMIM:154700
79875	THSD4	HP:0002650	Scoliosis	1/8	OMIM:619825
79875	THSD4	HP:0002650	Scoliosis	11/15	OMIM:121050
79875	THSD4	HP:0002650	Scoliosis	3/15	OMIM:208050
79875	THSD4	HP:0002650	Scoliosis	23/37	OMIM:182212
79875	THSD4	HP:0002650	Scoliosis	HP:0040283	ORPHA:91387
79875	THSD4	HP:0002647	Aortic dissection	1/58	OMIM:154700
79875	THSD4	HP:0002647	Aortic dissection	HP:0040283	ORPHA:91387
79875	THSD4	HP:0002619	Varicose veins	-	OMIM:130050
79875	THSD4	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
79875	THSD4	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
79875	THSD4	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
79875	THSD4	HP:0002616	Aortic root aneurysm	5/11	OMIM:619825
79875	THSD4	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:91387
79875	THSD4	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
79875	THSD4	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
79875	THSD4	HP:0000189	Narrow palate	-	OMIM:182212
79875	THSD4	HP:0000189	Narrow palate	-	OMIM:154700
79875	THSD4	HP:0000193	Bifid uvula	0/14	OMIM:208050
79875	THSD4	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
79875	THSD4	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:91387
79875	THSD4	HP:0012151	Hemothorax	3/4	OMIM:130050
79875	THSD4	HP:0000139	Uterine prolapse	-	OMIM:130050
79875	THSD4	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
79875	THSD4	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
79875	THSD4	HP:0002705	High, narrow palate	HP:0040283	ORPHA:91387
79875	THSD4	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
79875	THSD4	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
79875	THSD4	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
79875	THSD4	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
79875	THSD4	HP:0002036	Hiatus hernia	-	OMIM:208050
79875	THSD4	HP:0002007	Frontal bossing	-	OMIM:121050
79875	THSD4	HP:0002007	Frontal bossing	-	OMIM:182212
79875	THSD4	HP:0003302	Spondylolisthesis	-	OMIM:154700
79875	THSD4	HP:0002097	Emphysema	8/9	OMIM:130050
79875	THSD4	HP:0002097	Emphysema	HP:0040283	OMIM:154700
79875	THSD4	HP:0030961	Microspherophakia	2/53	OMIM:154700
79875	THSD4	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
79875	THSD4	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
79875	THSD4	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
79875	THSD4	HP:0010499	Patellar subluxation	12/22	OMIM:121050
79875	THSD4	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
79875	THSD4	HP:0002140	Ischemic stroke	-	OMIM:208050
79875	THSD4	HP:0002140	Ischemic stroke	HP:0040283	ORPHA:91387
79875	THSD4	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:91387
79875	THSD4	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
79875	THSD4	HP:0002108	Spontaneous pneumothorax	1/8	OMIM:619825
79875	THSD4	HP:0002107	Pneumothorax	2/2	OMIM:130050
79875	THSD4	HP:0002107	Pneumothorax	6/53	OMIM:154700
79875	THSD4	HP:0002107	Pneumothorax	HP:0040283	ORPHA:91387
79875	THSD4	HP:0002105	Hemoptysis	6/10	OMIM:130050
79875	THSD4	HP:0002105	Hemoptysis	HP:0040283	ORPHA:91387
79875	THSD4	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
79875	THSD4	HP:0003596	Middle age onset	5/12	OMIM:619825
79875	THSD4	HP:0003593	Infantile onset	5/16	OMIM:208050
79875	THSD4	HP:0003577	Congenital onset	5/5	OMIM:121050
79875	THSD4	HP:0003577	Congenital onset	12/26	OMIM:208050
79875	THSD4	HP:0003584	Late onset	4/12	OMIM:619825
79875	THSD4	HP:0100718	Uterine rupture	-	OMIM:130050
79875	THSD4	HP:0003549	Abnormality of connective tissue	HP:0040281	ORPHA:91387
79875	THSD4	HP:0004872	Incisional hernia	-	OMIM:154700
79875	THSD4	HP:0200146	Mucoid extracellular matrix accumulation	HP:0040281	ORPHA:91387
79875	THSD4	HP:0100775	Dural ectasia	112/140	OMIM:154700
79875	THSD4	HP:0100775	Dural ectasia	HP:0040283	ORPHA:91387
79875	THSD4	HP:0100749	Chest pain	1/2	OMIM:130050
79875	THSD4	HP:0100749	Chest pain	HP:0040282	ORPHA:91387
79875	THSD4	HP:0002293	Alopecia of scalp	-	OMIM:130050
79875	THSD4	HP:0034671	Knee contracture	7/14	OMIM:121050
79875	THSD4	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
79875	THSD4	HP:0010648	Dermal translucency	3/3	OMIM:130050
79875	THSD4	HP:0007099	Chiari type I malformation	-	OMIM:182212
79875	THSD4	HP:0025019	Arterial rupture	-	OMIM:130050
79875	THSD4	HP:0001065	Striae distensae	11/53	OMIM:154700
79875	THSD4	HP:0001030	Fragile skin	-	OMIM:130050
79875	THSD4	HP:0001027	Soft, doughy skin	-	OMIM:208050
79875	THSD4	HP:0002326	Transient ischemic attack	HP:0040283	ORPHA:91387
79875	THSD4	HP:0100645	Cystocele	-	OMIM:130050
79875	THSD4	HP:0001073	Cigarette-paper scars	-	OMIM:130050
79875	THSD4	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
79875	THSD4	HP:0001083	Ectopia lentis	119/251	OMIM:154700
79875	THSD4	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
79875	THSD4	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
79875	THSD4	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
79875	THSD4	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283	ORPHA:91387
79875	THSD4	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
79875	THSD4	HP:0003623	Neonatal onset	3/16	OMIM:208050
79875	THSD4	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
79875	THSD4	HP:0004970	Ascending tubular aorta aneurysm	3/11	OMIM:619825
79875	THSD4	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
79875	THSD4	HP:0004933	Ascending aortic dissection	3/11	OMIM:619825
79875	THSD4	HP:0004933	Ascending aortic dissection	HP:0040282	ORPHA:91387
79875	THSD4	HP:0003621	Juvenile onset	2/16	OMIM:208050
79875	THSD4	HP:0004950	Peripheral arterial stenosis	HP:0040283	ORPHA:91387
79875	THSD4	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
79875	THSD4	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:91387
79875	THSD4	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
79875	THSD4	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
79875	THSD4	HP:0001977	Abnormal thrombosis	-	OMIM:208050
79875	THSD4	HP:0001903	Anemia	1/1	OMIM:130050
79875	THSD4	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
79875	THSD4	HP:0000678	Dental crowding	8/53	OMIM:154700
79875	THSD4	HP:0000689	Dental malocclusion	-	OMIM:182212
79875	THSD4	HP:0004322	Short stature	-	OMIM:130050
79875	THSD4	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
79875	THSD4	HP:0003088	Premature osteoarthritis	-	OMIM:154700
79875	THSD4	HP:0003083	Dislocated radial head	5/37	OMIM:182212
79875	THSD4	HP:0003066	Limited knee extension	38/45	OMIM:121050
79875	THSD4	HP:0003042	Elbow dislocation	1/12	OMIM:121050
79875	THSD4	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
79875	THSD4	HP:0005684	Distal arthrogryposis	-	OMIM:121050
79875	THSD4	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
79875	THSD4	HP:0000767	Pectus excavatum	2/14	OMIM:121050
79875	THSD4	HP:0000767	Pectus excavatum	1/4	OMIM:130050
79875	THSD4	HP:0000767	Pectus excavatum	3/15	OMIM:208050
79875	THSD4	HP:0000767	Pectus excavatum	44/146	OMIM:154700
79875	THSD4	HP:0000767	Pectus excavatum	-	OMIM:182212
79875	THSD4	HP:0000767	Pectus excavatum	1/8	OMIM:619825
79875	THSD4	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:91387
79875	THSD4	HP:0000768	Pectus carinatum	4/14	OMIM:121050
79875	THSD4	HP:0000768	Pectus carinatum	2/15	OMIM:208050
79875	THSD4	HP:0000768	Pectus carinatum	58/146	OMIM:154700
79875	THSD4	HP:0000768	Pectus carinatum	-	OMIM:182212
79875	THSD4	HP:0000704	Periodontitis	-	OMIM:130050
79875	THSD4	HP:0011463	Childhood onset	1/16	OMIM:208050
79875	THSD4	HP:0011462	Young adult onset	3/16	OMIM:208050
79875	THSD4	HP:0011462	Young adult onset	3/12	OMIM:619825
79875	THSD4	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
79875	THSD4	HP:0012763	Paroxysmal dyspnea	HP:0040282	ORPHA:91387
79875	THSD4	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
79875	THSD4	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
79875	THSD4	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
79875	THSD4	HP:0030799	Scaphocephaly	-	OMIM:121050
79875	THSD4	HP:0003199	Decreased muscle mass	-	OMIM:154700
79875	THSD4	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
79875	THSD4	HP:0000883	Thin ribs	-	OMIM:182212
79875	THSD4	HP:0000822	Hypertension	-	OMIM:208050
79875	THSD4	HP:0000822	Hypertension	HP:0040282	ORPHA:91387
79875	THSD4	HP:0000895	Lateral clavicle hook	-	OMIM:182212
79875	THSD4	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
79875	THSD4	HP:0034391	Elbow contracture	10/14	OMIM:121050
79875	THSD4	HP:0003273	Hip contracture	32/121	OMIM:121050
79875	THSD4	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
79875	THSD4	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
79875	THSD4	HP:0000978	Bruising susceptibility	-	OMIM:208050
79875	THSD4	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:91387
79875	THSD4	HP:0000977	Soft skin	7/15	OMIM:208050
79875	THSD4	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
79875	THSD4	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
79875	THSD4	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
79875	THSD4	HP:0000973	Cutis laxa	5/14	OMIM:208050
79875	THSD4	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:91387
79875	THSD4	HP:0000963	Thin skin	4/13	OMIM:208050
79875	THSD4	HP:0000938	Osteopenia	-	OMIM:121050
79875	THSD4	HP:0000938	Osteopenia	-	OMIM:182212
79875	THSD4	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
79875	THSD4	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
79875	THSD4	HP:0025586	Hypertropia	8/573	OMIM:154700
79875	THSD4	HP:0000278	Retrognathia	-	OMIM:154700
79875	THSD4	HP:0000278	Retrognathia	HP:0040283	ORPHA:91387
79875	THSD4	HP:0000260	Wide anterior fontanel	-	OMIM:182212
79875	THSD4	HP:0000275	Narrow face	-	OMIM:154700
79875	THSD4	HP:0000276	Long face	14/14	OMIM:208050
79875	THSD4	HP:0000276	Long face	-	OMIM:154700
79875	THSD4	HP:0000272	Malar flattening	9/14	OMIM:208050
79875	THSD4	HP:0000272	Malar flattening	31/53	OMIM:154700
79875	THSD4	HP:0000268	Dolichocephaly	-	OMIM:121050
79875	THSD4	HP:0000268	Dolichocephaly	36/53	OMIM:154700
79875	THSD4	HP:0000268	Dolichocephaly	28/37	OMIM:182212
79875	THSD4	HP:0005136	Mitral annular calcification	-	OMIM:154700
79875	THSD4	HP:0005112	Abdominal aortic aneurysm	HP:0040283	ORPHA:91387
79875	THSD4	HP:0002816	Genu recurvatum	-	OMIM:182212
79875	THSD4	HP:0002816	Genu recurvatum	-	OMIM:154700
79875	THSD4	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
79875	THSD4	HP:0000244	Brachyturricephaly	-	OMIM:182212
79875	THSD4	HP:0000238	Hydrocephalus	13/37	OMIM:182212
79875	THSD4	HP:0000252	Microcephaly	6/37	OMIM:182212
79875	THSD4	HP:0000248	Brachycephaly	-	OMIM:121050
79875	THSD4	HP:0000218	High palate	34/53	OMIM:154700
79875	THSD4	HP:0000218	High palate	1/8	OMIM:619825
79875	THSD4	HP:0000218	High palate	30/102	OMIM:121050
79875	THSD4	HP:0000218	High palate	5/13	OMIM:208050
79875	THSD4	HP:0000218	High palate	30/37	OMIM:182212
79875	THSD4	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:91387
79875	THSD4	HP:0000233	Thin vermilion border	-	OMIM:130050
79875	THSD4	HP:0030009	Cervical insufficiency	-	OMIM:130050
79875	THSD4	HP:0002857	Genu valgum	4/37	OMIM:182212
79875	THSD4	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
79875	THSD4	HP:0001537	Umbilical hernia	-	OMIM:208050
79875	THSD4	HP:0001537	Umbilical hernia	13/37	OMIM:182212
79875	THSD4	HP:0031364	Ecchymosis	-	OMIM:130050
79875	THSD4	HP:0001519	Disproportionate tall stature	-	OMIM:121050
79875	THSD4	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
79875	THSD4	HP:0001519	Disproportionate tall stature	2/8	OMIM:619825
79875	THSD4	HP:0006510	Chronic pulmonary obstruction	1/8	OMIM:619825
79875	THSD4	HP:0007800	Increased axial length of the globe	-	OMIM:154700
79875	THSD4	HP:0012385	Camptodactyly	86/110	OMIM:121050
79875	THSD4	HP:0012385	Camptodactyly	19/53	OMIM:154700
79875	THSD4	HP:0012385	Camptodactyly	24/37	OMIM:182212
79875	THSD4	HP:0000387	Absent earlobe	-	OMIM:130050
79875	THSD4	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
79875	THSD4	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
79875	THSD4	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
79875	THSD4	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
79875	THSD4	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
79875	THSD4	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:91387
79875	THSD4	HP:0006480	Premature loss of teeth	-	OMIM:130050
79875	THSD4	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
79875	THSD4	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
79875	THSD4	HP:0000369	Low-set ears	32/37	OMIM:182212
79875	THSD4	HP:0000343	Long philtrum	-	OMIM:208050
79875	THSD4	HP:0002999	Patellar dislocation	2/20	OMIM:121050
79875	THSD4	HP:0000347	Micrognathia	-	OMIM:154700
79875	THSD4	HP:0000347	Micrognathia	26/94	OMIM:121050
79875	THSD4	HP:0000347	Micrognathia	5/14	OMIM:208050
79875	THSD4	HP:0000347	Micrognathia	33/37	OMIM:182212
79875	THSD4	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:91387
79875	THSD4	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
79875	THSD4	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
79875	THSD4	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
79875	THSD4	HP:0001647	Bicuspid aortic valve	1/11	OMIM:619825
79875	THSD4	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:91387
79875	THSD4	HP:0000316	Hypertelorism	1/8	OMIM:619825
79875	THSD4	HP:0000316	Hypertelorism	6/16	OMIM:208050
79875	THSD4	HP:0000316	Hypertelorism	28/37	OMIM:182212
79875	THSD4	HP:0000316	Hypertelorism	HP:0040283	ORPHA:91387
79875	THSD4	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
79875	THSD4	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:91387
79875	THSD4	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
79875	THSD4	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
79875	THSD4	HP:0001659	Aortic regurgitation	-	OMIM:208050
79875	THSD4	HP:0001659	Aortic regurgitation	1/11	OMIM:619825
79875	THSD4	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:91387
79875	THSD4	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
79875	THSD4	HP:0001653	Mitral regurgitation	-	OMIM:121050
79875	THSD4	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
79875	THSD4	HP:0001629	Ventricular septal defect	-	OMIM:121050
79875	THSD4	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:91387
79875	THSD4	HP:0001635	Congestive heart failure	-	OMIM:154700
79875	THSD4	HP:0001631	Atrial septal defect	-	OMIM:121050
79875	THSD4	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
79875	THSD4	HP:0001634	Mitral valve prolapse	-	OMIM:130050
79875	THSD4	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
79875	THSD4	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
79875	THSD4	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
79875	THSD4	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
79875	THSD4	HP:0012499	Descending aortic dissection	HP:0040282	ORPHA:91387
79875	THSD4	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
79875	THSD4	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
79875	THSD4	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
79875	THSD4	HP:0000400	Macrotia	7/15	OMIM:208050
79875	THSD4	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
79875	THSD4	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
79875	THSD4	HP:0000483	Astigmatism	3/53	OMIM:154700
79875	THSD4	HP:0000483	Astigmatism	5/15	OMIM:208050
79875	THSD4	HP:0000486	Strabismus	110/573	OMIM:154700
79875	THSD4	HP:0000486	Strabismus	17/37	OMIM:182212
79875	THSD4	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
79875	THSD4	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
79875	THSD4	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
79875	THSD4	HP:0000490	Deeply set eye	25/63	OMIM:154700
79875	THSD4	HP:0000463	Anteverted nares	9/37	OMIM:182212
79875	THSD4	HP:0001786	Narrow foot	33/53	OMIM:154700
79875	THSD4	HP:0000470	Short neck	-	OMIM:121050
79875	THSD4	HP:0011106	Hypovolemia	HP:0040283	ORPHA:91387
79875	THSD4	HP:0001763	Pes planus	27/53	OMIM:154700
79875	THSD4	HP:0001763	Pes planus	-	OMIM:182212
79875	THSD4	HP:0001763	Pes planus	HP:0040283	ORPHA:91387
79875	THSD4	HP:0001765	Hammertoe	-	OMIM:154700
79875	THSD4	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
79875	THSD4	HP:0000418	Narrow nasal ridge	-	OMIM:130050
79875	THSD4	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
79875	THSD4	HP:0001762	Talipes equinovarus	-	OMIM:130050
79875	THSD4	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
79875	THSD4	HP:0001761	Pes cavus	49/146	OMIM:154700
79875	THSD4	HP:0000518	Cataract	118/199	OMIM:154700
79875	THSD4	HP:0001840	Metatarsus adductus	-	OMIM:121050
79875	THSD4	HP:0001840	Metatarsus adductus	-	OMIM:182212
79875	THSD4	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
79875	THSD4	HP:0001842	Foot acroosteolysis	-	OMIM:130050
79875	THSD4	HP:0000525	Abnormality iris morphology	HP:0040282	ORPHA:91387
79875	THSD4	HP:0000520	Proptosis	29/37	OMIM:182212
79875	THSD4	HP:0000506	Telecanthus	-	OMIM:182212
79875	THSD4	HP:0000508	Ptosis	16/37	OMIM:182212
79875	THSD4	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
79875	THSD4	HP:0000501	Glaucoma	29/625	OMIM:154700
79875	THSD4	HP:0000581	Blepharophimosis	-	OMIM:208050
79875	THSD4	HP:0000577	Exotropia	72/626	OMIM:154700
79875	THSD4	HP:0000586	Shallow orbits	13/37	OMIM:182212
79875	THSD4	HP:0000563	Keratoconus	-	OMIM:130050
79875	THSD4	HP:0000563	Keratoconus	3/14	OMIM:208050
79875	THSD4	HP:0011220	Prominent forehead	17/37	OMIM:182212
79875	THSD4	HP:0000565	Esotropia	12/573	OMIM:154700
79875	THSD4	HP:0000541	Retinal detachment	-	OMIM:154700
79875	THSD4	HP:0001883	Talipes	13/53	OMIM:154700
79875	THSD4	HP:0000545	Myopia	-	OMIM:121050
79875	THSD4	HP:0000545	Myopia	6/15	OMIM:208050
79875	THSD4	HP:0000545	Myopia	93/251	OMIM:154700
79875	THSD4	HP:0000545	Myopia	9/37	OMIM:182212
79876	UBA5	HP:0010864	Intellectual disability, severe	7/8	OMIM:617132
79876	UBA5	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
79876	UBA5	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
79876	UBA5	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
79876	UBA5	HP:0001272	Cerebellar atrophy	1/7	OMIM:617132
79876	UBA5	HP:0001272	Cerebellar atrophy	2/2	OMIM:617133
79876	UBA5	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
79876	UBA5	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
79876	UBA5	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
79876	UBA5	HP:0001250	Seizure	HP:0040282	ORPHA:442835
79876	UBA5	HP:0001250	Seizure	8/9	OMIM:617132
79876	UBA5	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
79876	UBA5	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
79876	UBA5	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
79876	UBA5	HP:0001260	Dysarthria	2/2	OMIM:617133
79876	UBA5	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
79876	UBA5	HP:0001263	Global developmental delay	9/9	OMIM:617132
79876	UBA5	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
79876	UBA5	HP:0001257	Spasticity	8/9	OMIM:617132
79876	UBA5	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
79876	UBA5	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
79876	UBA5	HP:0001332	Dystonia	8/8	OMIM:617132
79876	UBA5	HP:0001344	Absent speech	8/9	OMIM:617132
79876	UBA5	HP:0000007	Autosomal recessive inheritance	-	OMIM:617132
79876	UBA5	HP:0000007	Autosomal recessive inheritance	-	OMIM:617133
79876	UBA5	HP:0001337	Tremor	HP:0040283	ORPHA:442835
79876	UBA5	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
79876	UBA5	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
79876	UBA5	HP:0008936	Axial hypotonia	9/9	OMIM:617132
79876	UBA5	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
79876	UBA5	HP:0002020	Gastroesophageal reflux	1/9	OMIM:617132
79876	UBA5	HP:0002066	Gait ataxia	2/2	OMIM:617133
79876	UBA5	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
79876	UBA5	HP:0002064	Spastic gait	1/2	OMIM:617133
79876	UBA5	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:617132
79876	UBA5	HP:0002070	Limb ataxia	2/2	OMIM:617133
79876	UBA5	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
79876	UBA5	HP:0002059	Cerebral atrophy	4/7	OMIM:617132
79876	UBA5	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
79876	UBA5	HP:0002188	Delayed CNS myelination	3/7	OMIM:617132
79876	UBA5	HP:0003593	Infantile onset	3/9	OMIM:617132
79876	UBA5	HP:0003577	Congenital onset	1/9	OMIM:617132
79876	UBA5	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
79876	UBA5	HP:0200134	Epileptic encephalopathy	9/9	OMIM:617132
79876	UBA5	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
79876	UBA5	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
79876	UBA5	HP:0011968	Feeding difficulties	-	OMIM:617132
79876	UBA5	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
79876	UBA5	HP:0003676	Progressive	-	OMIM:617133
79876	UBA5	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
79876	UBA5	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
79876	UBA5	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
79876	UBA5	HP:0003623	Neonatal onset	5/9	OMIM:617132
79876	UBA5	HP:0002305	Athetosis	8/8	OMIM:617132
79876	UBA5	HP:0003621	Juvenile onset	1/2	OMIM:617133
79876	UBA5	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
79876	UBA5	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
79876	UBA5	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
79876	UBA5	HP:0000666	Horizontal nystagmus	2/2	OMIM:617133
79876	UBA5	HP:0004322	Short stature	HP:0040283	ORPHA:442835
79876	UBA5	HP:0004322	Short stature	4/8	OMIM:617132
79876	UBA5	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
79876	UBA5	HP:0000737	Irritability	5/9	OMIM:617132
79876	UBA5	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
79876	UBA5	HP:0000717	Autism	HP:0040283	ORPHA:442835
79876	UBA5	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
79876	UBA5	HP:0011463	Childhood onset	1/2	OMIM:617133
79876	UBA5	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
79876	UBA5	HP:0000817	Reduced eye contact	4/9	OMIM:617132
79876	UBA5	HP:0000298	Mask-like facies	-	OMIM:617132
79876	UBA5	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
79876	UBA5	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
79876	UBA5	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
79876	UBA5	HP:0001508	Failure to thrive	-	OMIM:617132
79876	UBA5	HP:0000348	High forehead	HP:0040283	ORPHA:442835
79876	UBA5	HP:0012469	Infantile spasms	4/9	OMIM:617132
79876	UBA5	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
79876	UBA5	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
79876	UBA5	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
79876	UBA5	HP:0005484	Secondary microcephaly	7/8	OMIM:617132
79876	UBA5	HP:0000518	Cataract	2/2	OMIM:617133
79876	UBA5	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
79876	UBA5	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
79876	UBA5	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
79876	UBA5	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
79879	CCDC134	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
79879	CCDC134	HP:0001293	Cranial nerve compression	-	OMIM:131300
79879	CCDC134	HP:0001256	Intellectual disability, mild	-	OMIM:259770
79879	CCDC134	HP:0001252	Hypotonia	-	OMIM:259770
79879	CCDC134	HP:0001252	Hypotonia	2/7	OMIM:615777
79879	CCDC134	HP:0001249	Intellectual disability	5/7	OMIM:615777
79879	CCDC134	HP:0001263	Global developmental delay	1/1	OMIM:612394
79879	CCDC134	HP:0001263	Global developmental delay	-	OMIM:615777
79879	CCDC134	HP:0002515	Waddling gait	54/102	OMIM:131300
79879	CCDC134	HP:0001382	Joint hypermobility	-	OMIM:259770
79879	CCDC134	HP:0001382	Joint hypermobility	-	OMIM:615777
79879	CCDC134	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
79879	CCDC134	HP:0002694	Sclerosis of skull base	-	OMIM:131300
79879	CCDC134	HP:0008897	Postnatal growth retardation	-	OMIM:615777
79879	CCDC134	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
79879	CCDC134	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
79879	CCDC134	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
79879	CCDC134	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
79879	CCDC134	HP:0001324	Muscle weakness	40/96	OMIM:131300
79879	CCDC134	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
79879	CCDC134	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
79879	CCDC134	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
79879	CCDC134	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
79879	CCDC134	HP:0000007	Autosomal recessive inheritance	-	OMIM:619795
79879	CCDC134	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
79879	CCDC134	HP:0002650	Scoliosis	1/5	OMIM:259770
79879	CCDC134	HP:0002650	Scoliosis	1/1	OMIM:612394
79879	CCDC134	HP:0002650	Scoliosis	12/14	OMIM:131300
79879	CCDC134	HP:0002645	Wormian bones	3/3	OMIM:619795
79879	CCDC134	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
79879	CCDC134	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
79879	CCDC134	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
79879	CCDC134	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
79879	CCDC134	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
79879	CCDC134	HP:0000175	Cleft palate	2/7	OMIM:615777
79879	CCDC134	HP:0002757	Recurrent fractures	3/3	OMIM:619795
79879	CCDC134	HP:0002757	Recurrent fractures	4/5	OMIM:259770
79879	CCDC134	HP:0002756	Pathologic fracture	-	OMIM:259770
79879	CCDC134	HP:0002756	Pathologic fracture	1/1	OMIM:612394
79879	CCDC134	HP:0002753	Thin bony cortex	1/1	OMIM:619795
79879	CCDC134	HP:0002751	Kyphoscoliosis	-	OMIM:259770
79879	CCDC134	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
79879	CCDC134	HP:0100529	Abnormal blood phosphate concentration	0/3	OMIM:619795
79879	CCDC134	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
79879	CCDC134	HP:0003388	Easy fatigability	36/76	OMIM:131300
79879	CCDC134	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
79879	CCDC134	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
79879	CCDC134	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
79879	CCDC134	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
79879	CCDC134	HP:0002164	Nail dysplasia	1/1	OMIM:612394
79879	CCDC134	HP:0010557	Overlapping fingers	1/2	OMIM:612394
79879	CCDC134	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
79879	CCDC134	HP:0003593	Infantile onset	1/5	OMIM:259770
79879	CCDC134	HP:0003577	Congenital onset	4/5	OMIM:259770
79879	CCDC134	HP:0002208	Coarse hair	1/1	OMIM:612394
79879	CCDC134	HP:0003510	Severe short stature	7/7	OMIM:615777
79879	CCDC134	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
79879	CCDC134	HP:0025019	Arterial rupture	1/1	OMIM:612394
79879	CCDC134	HP:0002315	Headache	-	OMIM:131300
79879	CCDC134	HP:0004976	Knee dislocation	6/7	OMIM:615777
79879	CCDC134	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
79879	CCDC134	HP:0009803	Short phalanx of finger	-	OMIM:615777
79879	CCDC134	HP:0001089	Iris atrophy	-	OMIM:259770
79879	CCDC134	HP:0009763	Limb pain	63/92	OMIM:131300
79879	CCDC134	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
79879	CCDC134	HP:0003621	Juvenile onset	-	OMIM:131300
79879	CCDC134	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
79879	CCDC134	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
79879	CCDC134	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
79879	CCDC134	HP:6001056	Out-toeing	-	OMIM:131300
79879	CCDC134	HP:0000651	Diplopia	-	OMIM:131300
79879	CCDC134	HP:0000618	Blindness	5/5	OMIM:259770
79879	CCDC134	HP:0001956	Truncal obesity	2/7	OMIM:615777
79879	CCDC134	HP:0001903	Anemia	HP:0040283	OMIM:131300
79879	CCDC134	HP:0010049	Short metacarpal	-	OMIM:615777
79879	CCDC134	HP:0000678	Dental crowding	-	OMIM:615777
79879	CCDC134	HP:0000670	Carious teeth	-	OMIM:131300
79879	CCDC134	HP:0011304	Broad thumb	2/7	OMIM:615777
79879	CCDC134	HP:0000668	Hypodontia	-	OMIM:615777
79879	CCDC134	HP:0000667	Phthisis bulbi	-	OMIM:259770
79879	CCDC134	HP:0000664	Synophrys	-	OMIM:615777
79879	CCDC134	HP:0004322	Short stature	-	OMIM:259770
79879	CCDC134	HP:0004322	Short stature	3/3	OMIM:619795
79879	CCDC134	HP:0004396	Poor appetite	-	OMIM:131300
79879	CCDC134	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
79879	CCDC134	HP:0004363	Abnormal circulating calcium concentration	0/3	OMIM:619795
79879	CCDC134	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
79879	CCDC134	HP:0003016	Metaphyseal widening	-	OMIM:259770
79879	CCDC134	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
79879	CCDC134	HP:0003026	Short long bone	7/7	OMIM:615777
79879	CCDC134	HP:0031936	Delayed ability to walk	2/3	OMIM:619795
79879	CCDC134	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
79879	CCDC134	HP:0004349	Reduced bone mineral density	3/3	OMIM:619795
79879	CCDC134	HP:0000767	Pectus excavatum	2/7	OMIM:615777
79879	CCDC134	HP:0000768	Pectus carinatum	1/7	OMIM:615777
79879	CCDC134	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
79879	CCDC134	HP:0000750	Delayed speech and language development	-	OMIM:615777
79879	CCDC134	HP:0000703	Dentinogenesis imperfecta	0/3	OMIM:619795
79879	CCDC134	HP:0011463	Childhood onset	1/3	OMIM:619795
79879	CCDC134	HP:0011461	Fetal onset	2/3	OMIM:619795
79879	CCDC134	HP:0011461	Fetal onset	7/7	OMIM:615777
79879	CCDC134	HP:0011461	Fetal onset	2/2	OMIM:612394
79879	CCDC134	HP:0000774	Narrow chest	2/7	OMIM:615777
79879	CCDC134	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
79879	CCDC134	HP:0003100	Slender long bone	3/3	OMIM:619795
79879	CCDC134	HP:0003196	Short nose	1/1	OMIM:612394
79879	CCDC134	HP:0000926	Platyspondyly	-	OMIM:259770
79879	CCDC134	HP:0000926	Platyspondyly	1/7	OMIM:615777
79879	CCDC134	HP:0000926	Platyspondyly	1/1	OMIM:612394
79879	CCDC134	HP:0003180	Flat acetabular roof	-	OMIM:615777
79879	CCDC134	HP:0004482	Relative macrocephaly	-	OMIM:615777
79879	CCDC134	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
79879	CCDC134	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
79879	CCDC134	HP:0000823	Delayed puberty	-	OMIM:131300
79879	CCDC134	HP:0000894	Short clavicles	-	OMIM:615777
79879	CCDC134	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
79879	CCDC134	HP:0005877	Multiple small vertebral fractures	1/3	OMIM:619795
79879	CCDC134	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
79879	CCDC134	HP:0005864	Pseudoarthrosis	2/3	OMIM:619795
79879	CCDC134	HP:0005855	Multiple prenatal fractures	1/3	OMIM:619795
79879	CCDC134	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
79879	CCDC134	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
79879	CCDC134	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
79879	CCDC134	HP:0000939	Osteoporosis	4/5	OMIM:259770
79879	CCDC134	HP:0000938	Osteopenia	1/5	OMIM:259770
79879	CCDC134	HP:0000938	Osteopenia	1/1	OMIM:612394
79879	CCDC134	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
79879	CCDC134	HP:0000286	Epicanthus	1/7	OMIM:615777
79879	CCDC134	HP:0000280	Coarse facial features	2/7	OMIM:615777
79879	CCDC134	HP:0000272	Malar flattening	1/1	OMIM:612394
79879	CCDC134	HP:0007773	Vitreoretinopathy	-	OMIM:259770
79879	CCDC134	HP:0002827	Hip dislocation	3/7	OMIM:615777
79879	CCDC134	HP:0002808	Kyphosis	1/5	OMIM:259770
79879	CCDC134	HP:0000252	Microcephaly	-	OMIM:259770
79879	CCDC134	HP:0000252	Microcephaly	-	OMIM:615777
79879	CCDC134	HP:0001552	Barrel-shaped chest	-	OMIM:259770
79879	CCDC134	HP:0002857	Genu valgum	-	OMIM:131300
79879	CCDC134	HP:0001533	Slender build	-	OMIM:131300
79879	CCDC134	HP:0001511	Intrauterine growth retardation	2/3	OMIM:619795
79879	CCDC134	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
79879	CCDC134	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
79879	CCDC134	HP:0007807	Optic nerve compression	-	OMIM:131300
79879	CCDC134	HP:0012368	Flat face	7/7	OMIM:615777
79879	CCDC134	HP:0012368	Flat face	1/1	OMIM:612394
79879	CCDC134	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
79879	CCDC134	HP:0007875	Congenital blindness	4/5	OMIM:259770
79879	CCDC134	HP:0007862	Retinal calcification	1/5	OMIM:259770
79879	CCDC134	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
79879	CCDC134	HP:0006487	Bowing of the long bones	3/3	OMIM:619795
79879	CCDC134	HP:0031429	Decreased circulating osteocalcin level	1/3	OMIM:619795
79879	CCDC134	HP:0000365	Hearing impairment	1/3	OMIM:619795
79879	CCDC134	HP:0000365	Hearing impairment	10/67	OMIM:131300
79879	CCDC134	HP:0000369	Low-set ears	2/2	OMIM:612394
79879	CCDC134	HP:0000343	Long philtrum	1/7	OMIM:615777
79879	CCDC134	HP:0011001	Increased bone mineral density	-	OMIM:131300
79879	CCDC134	HP:0002982	Tibial bowing	1/5	OMIM:259770
79879	CCDC134	HP:0000311	Round face	2/7	OMIM:615777
79879	CCDC134	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
79879	CCDC134	HP:0001629	Ventricular septal defect	-	OMIM:259770
79879	CCDC134	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
79879	CCDC134	HP:0002970	Genu varum	-	OMIM:615777
79879	CCDC134	HP:0000307	Pointed chin	1/2	OMIM:612394
79879	CCDC134	HP:0000303	Mandibular prognathia	-	OMIM:131300
79879	CCDC134	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
79879	CCDC134	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
79879	CCDC134	HP:0000463	Anteverted nares	1/1	OMIM:612394
79879	CCDC134	HP:0000470	Short neck	1/7	OMIM:615777
79879	CCDC134	HP:0001769	Broad foot	HP:0040283	OMIM:615777
79879	CCDC134	HP:0001763	Pes planus	1/7	OMIM:615777
79879	CCDC134	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
79879	CCDC134	HP:0000518	Cataract	1/5	OMIM:259770
79879	CCDC134	HP:0000518	Cataract	1/1	OMIM:612394
79879	CCDC134	HP:0001840	Metatarsus adductus	-	OMIM:615777
79879	CCDC134	HP:0000520	Proptosis	2/4	OMIM:131300
79879	CCDC134	HP:0000520	Proptosis	7/7	OMIM:615777
79879	CCDC134	HP:0000592	Blue sclerae	2/7	OMIM:615777
79879	CCDC134	HP:0000586	Shallow orbits	1/1	OMIM:612394
79879	CCDC134	HP:0000568	Microphthalmia	1/5	OMIM:259770
79879	CCDC134	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
79879	CCDC134	HP:0012514	Lower limb pain	4/4	OMIM:131300
79879	CCDC134	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
79879	CCDC134	HP:0000545	Myopia	1/1	OMIM:612394
79882	ZC3H14	HP:0001249	Intellectual disability	6/6	OMIM:617125
79882	ZC3H14	HP:0000007	Autosomal recessive inheritance	-	OMIM:617125
79902	NUP85	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
79902	NUP85	HP:0003774	Stage 5 chronic kidney disease	3/4	OMIM:618176
79902	NUP85	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
79902	NUP85	HP:0001249	Intellectual disability	HP:0040281	ORPHA:808
79902	NUP85	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
79902	NUP85	HP:0000097	Focal segmental glomerulosclerosis	3/3	OMIM:618176
79902	NUP85	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
79902	NUP85	HP:0000093	Proteinuria	-	OMIM:618176
79902	NUP85	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:808
79902	NUP85	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:808
79902	NUP85	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:808
79902	NUP85	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:808
79902	NUP85	HP:0000007	Autosomal recessive inheritance	-	OMIM:618176
79902	NUP85	HP:0002650	Scoliosis	HP:0040283	ORPHA:808
79902	NUP85	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:808
79902	NUP85	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
79902	NUP85	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
79902	NUP85	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:808
79902	NUP85	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:808
79902	NUP85	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:808
79902	NUP85	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
79902	NUP85	HP:0003676	Progressive	-	OMIM:618176
79902	NUP85	HP:0002315	Headache	HP:0040283	ORPHA:656
79902	NUP85	HP:0009804	Tooth agenesis	HP:0040282	ORPHA:808
79902	NUP85	HP:0003621	Juvenile onset	3/4	OMIM:618176
79902	NUP85	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:808
79902	NUP85	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
79902	NUP85	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
79902	NUP85	HP:0001945	Fever	HP:0040283	ORPHA:656
79902	NUP85	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:808
79902	NUP85	HP:0011342	Mild global developmental delay	HP:0040281	ORPHA:808
79902	NUP85	HP:0004322	Short stature	HP:0040281	ORPHA:808
79902	NUP85	HP:0004322	Short stature	1/4	OMIM:618176
79902	NUP85	HP:0004326	Cachexia	HP:0040281	ORPHA:808
79902	NUP85	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
79902	NUP85	HP:0000737	Irritability	HP:0040283	ORPHA:656
79902	NUP85	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
79902	NUP85	HP:0011463	Childhood onset	1/4	OMIM:618176
79902	NUP85	HP:0000969	Edema	HP:0040281	ORPHA:656
79902	NUP85	HP:0000275	Narrow face	HP:0040281	ORPHA:808
79902	NUP85	HP:0000252	Microcephaly	HP:0040281	ORPHA:808
79902	NUP85	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:808
79902	NUP85	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
79902	NUP85	HP:0000387	Absent earlobe	HP:0040282	ORPHA:808
79902	NUP85	HP:0002907	Microscopic hematuria	4/4	OMIM:618176
79902	NUP85	HP:0000363	Abnormal earlobe morphology	HP:0040282	ORPHA:808
79902	NUP85	HP:0000347	Micrognathia	HP:0040281	ORPHA:808
79902	NUP85	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:808
79902	NUP85	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:808
79902	NUP85	HP:0001852	Sandal gap	HP:0040281	ORPHA:808
79902	NUP85	HP:0000501	Glaucoma	HP:0040282	ORPHA:808
79902	NUP85	HP:0012588	Steroid-resistant nephrotic syndrome	4/4	OMIM:618176
79902	NUP85	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
79903	NAA60	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:1980
79903	NAA60	HP:0007256	Abnormal pyramidal sign	5/10	OMIM:620786
79903	NAA60	HP:0007229	Intracerebral periventricular calcifications	1/9	OMIM:620786
79903	NAA60	HP:0002425	Anarthria	2/9	OMIM:620786
79903	NAA60	HP:0001270	Motor delay	1/10	OMIM:620786
79903	NAA60	HP:0001256	Intellectual disability, mild	3/10	OMIM:620786
79903	NAA60	HP:0001250	Seizure	HP:0040282	ORPHA:1980
79903	NAA60	HP:0001250	Seizure	5/10	OMIM:620786
79903	NAA60	HP:0001252	Hypotonia	1/10	OMIM:620786
79903	NAA60	HP:0001251	Ataxia	6/7	OMIM:620786
79903	NAA60	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:1980
79903	NAA60	HP:0007352	Cerebellar calcifications	HP:0040283	ORPHA:1980
79903	NAA60	HP:0007352	Cerebellar calcifications	6/9	OMIM:620786
79903	NAA60	HP:0007346	Subcortical white matter calcifications	2/9	OMIM:620786
79903	NAA60	HP:0001350	Slurred speech	HP:0040283	ORPHA:1980
79903	NAA60	HP:0001332	Dystonia	HP:0040283	ORPHA:1980
79903	NAA60	HP:0001332	Dystonia	3/10	OMIM:620786
79903	NAA60	HP:0000012	Urinary urgency	HP:0040283	ORPHA:1980
79903	NAA60	HP:0000007	Autosomal recessive inheritance	-	OMIM:620786
79903	NAA60	HP:0001337	Tremor	HP:0040282	ORPHA:1980
79903	NAA60	HP:0001300	Parkinsonism	4/9	OMIM:620786
79903	NAA60	HP:0008948	Proximal upper limb amyotrophy	1/10	OMIM:620786
79903	NAA60	HP:0002015	Dysphagia	HP:0040283	ORPHA:1980
79903	NAA60	HP:0002015	Dysphagia	2/10	OMIM:620786
79903	NAA60	HP:0002067	Bradykinesia	HP:0040282	ORPHA:1980
79903	NAA60	HP:0003394	Muscle spasm	HP:0040283	ORPHA:1980
79903	NAA60	HP:0002063	Rigidity	HP:0040282	ORPHA:1980
79903	NAA60	HP:0002076	Migraine	3/10	OMIM:620786
79903	NAA60	HP:0002072	Chorea	1/10	OMIM:620786
79903	NAA60	HP:0002071	Abnormality of extrapyramidal motor function	1/2	OMIM:620786
79903	NAA60	HP:0003388	Easy fatigability	HP:0040283	ORPHA:1980
79903	NAA60	HP:0002135	Basal ganglia calcification	7/9	OMIM:620786
79903	NAA60	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:1980
79903	NAA60	HP:0002126	Polymicrogyria	1/6	OMIM:620786
79903	NAA60	HP:0003593	Infantile onset	6/10	OMIM:620786
79903	NAA60	HP:0002273	Tetraparesis	1/10	OMIM:620786
79903	NAA60	HP:0007018	Attention deficit hyperactivity disorder	2/10	OMIM:620786
79903	NAA60	HP:0002344	Progressive neurologic deterioration	HP:0040282	ORPHA:1980
79903	NAA60	HP:0002354	Memory impairment	HP:0040283	ORPHA:1980
79903	NAA60	HP:0002321	Vertigo	HP:0040282	ORPHA:1980
79903	NAA60	HP:0002317	Unsteady gait	HP:0040283	ORPHA:1980
79903	NAA60	HP:0002315	Headache	HP:0040282	ORPHA:1980
79903	NAA60	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1980
79903	NAA60	HP:0007146	Bilateral basal ganglia lesions	HP:0040282	ORPHA:1980
79903	NAA60	HP:0010780	Hyperacusis	1/10	OMIM:620786
79903	NAA60	HP:0032180	Abnormal circulating metabolite concentration	-	ORPHA:1980
79903	NAA60	HP:0002312	Clumsiness	HP:0040283	ORPHA:1980
79903	NAA60	HP:0004322	Short stature	1/10	OMIM:620786
79903	NAA60	HP:0004305	Involuntary movements	HP:0040283	ORPHA:1980
79903	NAA60	HP:0031987	Diminished ability to concentrate	HP:0040283	ORPHA:1980
79903	NAA60	HP:0000802	Impotence	HP:0040283	ORPHA:1980
79903	NAA60	HP:0000751	Personality changes	HP:0040282	ORPHA:1980
79903	NAA60	HP:0000739	Anxiety	HP:0040282	ORPHA:1980
79903	NAA60	HP:0000739	Anxiety	1/10	OMIM:620786
79903	NAA60	HP:0000733	Motor stereotypy	1/10	OMIM:620786
79903	NAA60	HP:0000716	Depression	1/10	OMIM:620786
79903	NAA60	HP:0000726	Dementia	HP:0040282	ORPHA:1980
79903	NAA60	HP:0000709	Psychosis	1/10	OMIM:620786
79903	NAA60	HP:0000709	Psychosis	HP:0040282	ORPHA:1980
79903	NAA60	HP:0011462	Young adult onset	4/10	OMIM:620786
79903	NAA60	HP:0011450	Unusual CNS infection	-	ORPHA:1980
79903	NAA60	HP:0034295	Reduced cerebral white matter volume	2/6	OMIM:620786
79903	NAA60	HP:0000822	Hypertension	HP:0040283	ORPHA:1980
79903	NAA60	HP:0000298	Mask-like facies	HP:0040282	ORPHA:1980
79903	NAA60	HP:0000256	Macrocephaly	3/10	OMIM:620786
79903	NAA60	HP:0000252	Microcephaly	2/10	OMIM:620786
79903	NAA60	HP:0000218	High palate	1/10	OMIM:620786
79903	NAA60	HP:0002857	Genu valgum	1/10	OMIM:620786
79903	NAA60	HP:0007874	Almond-shaped palpebral fissure	1/10	OMIM:620786
79903	NAA60	HP:0000369	Low-set ears	1/10	OMIM:620786
79903	NAA60	HP:0001680	Coarctation of aorta	1/10	OMIM:620786
79903	NAA60	HP:0031627	Globus pallidus calcification	1/9	OMIM:620786
79903	NAA60	HP:0000486	Strabismus	1/10	OMIM:620786
79903	NAA60	HP:0000519	Developmental cataract	1/10	OMIM:620786
79903	NAA60	HP:0000520	Proptosis	1/10	OMIM:620786
79912	PYROXD1	HP:0003798	Nemaline bodies	2/9	OMIM:617258
79912	PYROXD1	HP:0003701	Proximal muscle weakness	-	OMIM:617258
79912	PYROXD1	HP:0003700	Generalized amyotrophy	-	OMIM:617258
79912	PYROXD1	HP:0001284	Areflexia	-	OMIM:617258
79912	PYROXD1	HP:0001265	Hyporeflexia	9/9	OMIM:617258
79912	PYROXD1	HP:0000098	Tall stature	4/9	OMIM:617258
79912	PYROXD1	HP:0001382	Joint hypermobility	4/9	OMIM:617258
79912	PYROXD1	HP:0001324	Muscle weakness	9/9	OMIM:617258
79912	PYROXD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617258
79912	PYROXD1	HP:0002650	Scoliosis	2/9	OMIM:617258
79912	PYROXD1	HP:0001319	Neonatal hypotonia	1/9	OMIM:617258
79912	PYROXD1	HP:0002783	Recurrent lower respiratory tract infections	4/9	OMIM:617258
79912	PYROXD1	HP:0002792	Reduced vital capacity	1/9	OMIM:617258
79912	PYROXD1	HP:0002015	Dysphagia	7/9	OMIM:617258
79912	PYROXD1	HP:0003306	Spinal rigidity	2/9	OMIM:617258
79912	PYROXD1	HP:0002091	Restrictive ventilatory defect	2/9	OMIM:617258
79912	PYROXD1	HP:0003391	Gowers sign	4/9	OMIM:617258
79912	PYROXD1	HP:0002058	Myopathic facies	9/9	OMIM:617258
79912	PYROXD1	HP:0003388	Easy fatigability	-	OMIM:617258
79912	PYROXD1	HP:0003593	Infantile onset	2/9	OMIM:617258
79912	PYROXD1	HP:0003577	Congenital onset	1/9	OMIM:617258
79912	PYROXD1	HP:0003551	Difficulty climbing stairs	8/9	OMIM:617258
79912	PYROXD1	HP:0003691	Scapular winging	5/9	OMIM:617258
79912	PYROXD1	HP:0003690	Limb muscle weakness	9/9	OMIM:617258
79912	PYROXD1	HP:0002359	Frequent falls	2/9	OMIM:617258
79912	PYROXD1	HP:0003687	Centrally nucleated skeletal muscle fibers	5/9	OMIM:617258
79912	PYROXD1	HP:0003677	Slowly progressive	-	OMIM:617258
79912	PYROXD1	HP:0003621	Juvenile onset	4/9	OMIM:617258
79912	PYROXD1	HP:0020152	Distal joint hypermobility	2/9	OMIM:617258
79912	PYROXD1	HP:0009046	Difficulty running	-	OMIM:617258
79912	PYROXD1	HP:0000689	Dental malocclusion	2/9	OMIM:617258
79912	PYROXD1	HP:0000767	Pectus excavatum	2/9	OMIM:617258
79912	PYROXD1	HP:0009183	Joint contracture of the 5th finger	2/9	OMIM:617258
79912	PYROXD1	HP:0011463	Childhood onset	2/9	OMIM:617258
79912	PYROXD1	HP:0003236	Elevated circulating creatine kinase concentration	4/9	OMIM:617258
79912	PYROXD1	HP:0000276	Long face	4/9	OMIM:617258
79912	PYROXD1	HP:0000218	High palate	7/9	OMIM:617258
79912	PYROXD1	HP:0005216	Impaired mastication	2/9	OMIM:617258
79912	PYROXD1	HP:0001611	Hypernasal speech	9/9	OMIM:617258
79912	PYROXD1	HP:0000347	Micrognathia	1/9	OMIM:617258
79912	PYROXD1	HP:0001653	Mitral regurgitation	1/9	OMIM:617258
79912	PYROXD1	HP:0030230	Central core regions in muscle fibers	5/9	OMIM:617258
79912	PYROXD1	HP:0000467	Neck muscle weakness	2/9	OMIM:617258
79912	PYROXD1	HP:0001771	Achilles tendon contracture	2/9	OMIM:617258
79912	PYROXD1	HP:0001763	Pes planus	5/9	OMIM:617258
79912	PYROXD1	HP:0001761	Pes cavus	1/9	OMIM:617258
79912	PYROXD1	HP:0000508	Ptosis	3/9	OMIM:617258
79912	PYROXD1	HP:0000577	Exotropia	1/9	OMIM:617258
79925	SPEF2	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
79925	SPEF2	HP:0033525	Absent sperm axoneme central pair complex	3/3	OMIM:618751
79925	SPEF2	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
79925	SPEF2	HP:0001217	Clubbing	HP:0040283	ORPHA:244
79925	SPEF2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618751
79925	SPEF2	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
79925	SPEF2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
79925	SPEF2	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
79925	SPEF2	HP:0032558	Absent sperm flagella	-	OMIM:618751
79925	SPEF2	HP:0032560	Coiled sperm flagella	-	OMIM:618751
79925	SPEF2	HP:0031245	Productive cough	HP:0040282	ORPHA:244
79925	SPEF2	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
79925	SPEF2	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
79925	SPEF2	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
79925	SPEF2	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
79925	SPEF2	HP:0008222	Female infertility	HP:0040283	ORPHA:244
79925	SPEF2	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
79925	SPEF2	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
79925	SPEF2	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
79925	SPEF2	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
79925	SPEF2	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
79925	SPEF2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
79925	SPEF2	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
79925	SPEF2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
79925	SPEF2	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
79925	SPEF2	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
79925	SPEF2	HP:0030828	Wheezing	HP:0040283	ORPHA:244
79925	SPEF2	HP:0003251	Male infertility	-	OMIM:618751
79925	SPEF2	HP:0003251	Male infertility	HP:0040282	ORPHA:244
79925	SPEF2	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
79925	SPEF2	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
79925	SPEF2	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
79925	SPEF2	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
79925	SPEF2	HP:0012207	Reduced sperm motility	-	OMIM:618751
79925	SPEF2	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
79925	SPEF2	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
79925	SPEF2	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
79925	SPEF2	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
79925	SPEF2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
79925	SPEF2	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
79925	SPEF2	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
79925	SPEF2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
79925	SPEF2	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
79925	SPEF2	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
79925	SPEF2	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
79925	SPEF2	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
79925	SPEF2	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
79925	SPEF2	HP:0001746	Asplenia	HP:0040284	ORPHA:244
79925	SPEF2	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
79925	SPEF2	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
79925	SPEF2	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
79925	SPEF2	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
79925	SPEF2	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
79932	KIAA0319L	HP:0100958	Narrow foramen obturatorium	HP:0040281	ORPHA:220402
79932	KIAA0319L	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
79932	KIAA0319L	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
79932	KIAA0319L	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
79932	KIAA0319L	HP:0001250	Seizure	HP:0040283	ORPHA:536
79932	KIAA0319L	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
79932	KIAA0319L	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
79932	KIAA0319L	HP:0001369	Arthritis	HP:0040282	ORPHA:536
79932	KIAA0319L	HP:0033834	Malaise	HP:0040281	ORPHA:536
79932	KIAA0319L	HP:0012085	Pyuria	HP:0040282	ORPHA:536
79932	KIAA0319L	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
79932	KIAA0319L	HP:0025300	Malar rash	HP:0040282	ORPHA:536
79932	KIAA0319L	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
79932	KIAA0319L	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
79932	KIAA0319L	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220402
79932	KIAA0319L	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:220402
79932	KIAA0319L	HP:0002015	Dysphagia	HP:0040282	ORPHA:220402
79932	KIAA0319L	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:220402
79932	KIAA0319L	HP:0002072	Chorea	HP:0040284	ORPHA:536
79932	KIAA0319L	HP:0002039	Anorexia	HP:0040281	ORPHA:536
79932	KIAA0319L	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:220402
79932	KIAA0319L	HP:0100579	Mucosal telangiectasiae	HP:0040282	ORPHA:220402
79932	KIAA0319L	HP:0009473	Joint contracture of the hand	HP:0040283	ORPHA:220402
79932	KIAA0319L	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
79932	KIAA0319L	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
79932	KIAA0319L	HP:0002206	Pulmonary fibrosis	HP:0040283	ORPHA:220402
79932	KIAA0319L	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
79932	KIAA0319L	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
79932	KIAA0319L	HP:0008366	Foot joint contracture	HP:0040283	ORPHA:220402
79932	KIAA0319L	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:220402
79932	KIAA0319L	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:220402
79932	KIAA0319L	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
79932	KIAA0319L	HP:0200042	Skin ulcer	HP:0040282	ORPHA:220402
79932	KIAA0319L	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
79932	KIAA0319L	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
79932	KIAA0319L	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
79932	KIAA0319L	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
79932	KIAA0319L	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
79932	KIAA0319L	HP:0001945	Fever	HP:0040281	ORPHA:536
79932	KIAA0319L	HP:0000716	Depression	HP:0040283	ORPHA:536
79932	KIAA0319L	HP:0000790	Hematuria	HP:0040282	ORPHA:536
79932	KIAA0319L	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
79932	KIAA0319L	HP:0000822	Hypertension	HP:0040282	ORPHA:536
79932	KIAA0319L	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
79932	KIAA0319L	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
79932	KIAA0319L	HP:0045073	Serositis	HP:0040283	ORPHA:536
79932	KIAA0319L	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
79932	KIAA0319L	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:220402
79932	KIAA0319L	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
79932	KIAA0319L	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
79932	KIAA0319L	HP:0001596	Alopecia	HP:0040282	ORPHA:536
79932	KIAA0319L	HP:0012378	Fatigue	HP:0040281	ORPHA:536
79932	KIAA0319L	HP:0002960	Autoimmunity	HP:0040281	ORPHA:220402
79932	KIAA0319L	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
79932	KIAA0319L	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
79932	KIAA0319L	HP:0001824	Weight loss	HP:0040281	ORPHA:536
79932	KIAA0319L	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
79932	KIAA0319L	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
79932	KIAA0319L	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
79934	COQ8B	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
79934	COQ8B	HP:0003774	Stage 5 chronic kidney disease	9/9	OMIM:615573
79934	COQ8B	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
79934	COQ8B	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
79934	COQ8B	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
79934	COQ8B	HP:0000097	Focal segmental glomerulosclerosis	12/13	OMIM:615573
79934	COQ8B	HP:0000096	Glomerular sclerosis	1/15	OMIM:615573
79934	COQ8B	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
79934	COQ8B	HP:0000093	Proteinuria	-	OMIM:615573
79934	COQ8B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615573
79934	COQ8B	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
79934	COQ8B	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
79934	COQ8B	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
79934	COQ8B	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
79934	COQ8B	HP:0003593	Infantile onset	1/15	OMIM:615573
79934	COQ8B	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
79934	COQ8B	HP:0003676	Progressive	-	OMIM:615573
79934	COQ8B	HP:0002315	Headache	HP:0040283	ORPHA:656
79934	COQ8B	HP:0003621	Juvenile onset	8/15	OMIM:615573
79934	COQ8B	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
79934	COQ8B	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
79934	COQ8B	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
79934	COQ8B	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
79934	COQ8B	HP:0000618	Blindness	HP:0040281	ORPHA:791
79934	COQ8B	HP:0000613	Photophobia	HP:0040281	ORPHA:791
79934	COQ8B	HP:0001945	Fever	HP:0040283	ORPHA:656
79934	COQ8B	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
79934	COQ8B	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
79934	COQ8B	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
79934	COQ8B	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
79934	COQ8B	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
79934	COQ8B	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
79934	COQ8B	HP:0003073	Hypoalbuminemia	-	OMIM:615573
79934	COQ8B	HP:0000737	Irritability	HP:0040283	ORPHA:656
79934	COQ8B	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
79934	COQ8B	HP:0011463	Childhood onset	1/15	OMIM:615573
79934	COQ8B	HP:0011462	Young adult onset	5/15	OMIM:615573
79934	COQ8B	HP:0030786	Photopsia	HP:0040283	ORPHA:791
79934	COQ8B	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
79934	COQ8B	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
79934	COQ8B	HP:0000969	Edema	HP:0040281	ORPHA:656
79934	COQ8B	HP:0000969	Edema	-	OMIM:615573
79934	COQ8B	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
79934	COQ8B	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
79934	COQ8B	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
79934	COQ8B	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
79934	COQ8B	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
79934	COQ8B	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
79934	COQ8B	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
79934	COQ8B	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
79934	COQ8B	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
79934	COQ8B	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
79934	COQ8B	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
79934	COQ8B	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
79934	COQ8B	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
79934	COQ8B	HP:0012588	Steroid-resistant nephrotic syndrome	15/15	OMIM:615573
79934	COQ8B	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
79934	COQ8B	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
79934	COQ8B	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
79934	COQ8B	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
79934	COQ8B	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
79944	L2HGDH	HP:0007256	Abnormal pyramidal sign	-	OMIM:236792
79944	L2HGDH	HP:0007258	Severe demyelination of the white matter	-	OMIM:236792
79944	L2HGDH	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:79314
79944	L2HGDH	HP:0001272	Cerebellar atrophy	-	OMIM:236792
79944	L2HGDH	HP:0001285	Spastic tetraparesis	-	OMIM:236792
79944	L2HGDH	HP:0001285	Spastic tetraparesis	HP:0040282	ORPHA:79314
79944	L2HGDH	HP:0001250	Seizure	5/5	OMIM:236792
79944	L2HGDH	HP:0001250	Seizure	HP:0040281	ORPHA:79314
79944	L2HGDH	HP:0001252	Hypotonia	HP:0040282	ORPHA:79314
79944	L2HGDH	HP:0001251	Ataxia	5/5	OMIM:236792
79944	L2HGDH	HP:0001249	Intellectual disability	5/5	OMIM:236792
79944	L2HGDH	HP:0007371	Corpus callosum atrophy	-	OMIM:236792
79944	L2HGDH	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:79314
79944	L2HGDH	HP:0000007	Autosomal recessive inheritance	-	OMIM:236792
79944	L2HGDH	HP:0002062	Abnormal pyramidal tract morphology	-	OMIM:236792
79944	L2HGDH	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:236792
79944	L2HGDH	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:79314
79944	L2HGDH	HP:0002171	Gliosis	-	OMIM:236792
79944	L2HGDH	HP:0003593	Infantile onset	5/5	OMIM:236792
79944	L2HGDH	HP:0002283	Global brain atrophy	-	OMIM:236792
79944	L2HGDH	HP:0002383	Infectious encephalitis	HP:0040281	ORPHA:79314
79944	L2HGDH	HP:0002381	Aphasia	-	OMIM:236792
79944	L2HGDH	HP:0002381	Aphasia	HP:0040283	ORPHA:79314
79944	L2HGDH	HP:0002376	Developmental regression	-	OMIM:236792
79944	L2HGDH	HP:0002352	Leukoencephalopathy	5/5	OMIM:236792
79944	L2HGDH	HP:0006887	Intellectual disability, progressive	HP:0040281	ORPHA:79314
79944	L2HGDH	HP:0000639	Nystagmus	-	OMIM:236792
79944	L2HGDH	HP:0000648	Optic atrophy	-	OMIM:236792
79944	L2HGDH	HP:0004375	Neoplasm of the nervous system	HP:0040282	ORPHA:79314
79944	L2HGDH	HP:0000708	Atypical behavior	HP:0040282	ORPHA:79314
79944	L2HGDH	HP:0040147	L-2-hydroxyglutaric acidemia	-	OMIM:236792
79944	L2HGDH	HP:0040144	L-2-hydroxyglutaric aciduria	5/5	OMIM:236792
79944	L2HGDH	HP:0000256	Macrocephaly	HP:0040282	ORPHA:79314
79944	L2HGDH	HP:0000365	Hearing impairment	-	OMIM:236792
79944	L2HGDH	HP:0000486	Strabismus	-	OMIM:236792
79947	DHDDS	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
79947	DHDDS	HP:0001133	Constriction of peripheral visual field	3/3	OMIM:613861
79947	DHDDS	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
79947	DHDDS	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
79947	DHDDS	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
79947	DHDDS	HP:0001290	Generalized hypotonia	3/8	OMIM:617836
79947	DHDDS	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0001250	Seizure	-	OMIM:613861
79947	DHDDS	HP:0001250	Seizure	HP:0040282	ORPHA:442835
79947	DHDDS	HP:0001251	Ataxia	4/8	OMIM:617836
79947	DHDDS	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0001249	Intellectual disability	-	OMIM:617836
79947	DHDDS	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
79947	DHDDS	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
79947	DHDDS	HP:0001263	Global developmental delay	7/8	OMIM:617836
79947	DHDDS	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
79947	DHDDS	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0001257	Spasticity	-	OMIM:613861
79947	DHDDS	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0003828	Variable expressivity	-	OMIM:617836
79947	DHDDS	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
79947	DHDDS	HP:0000083	Renal insufficiency	-	OMIM:613861
79947	DHDDS	HP:0000054	Micropenis	-	OMIM:613861
79947	DHDDS	HP:0000028	Cryptorchidism	-	OMIM:613861
79947	DHDDS	HP:0001332	Dystonia	-	OMIM:617836
79947	DHDDS	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
79947	DHDDS	HP:0000007	Autosomal recessive inheritance	-	OMIM:613861
79947	DHDDS	HP:0001337	Tremor	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0001337	Tremor	6/8	OMIM:617836
79947	DHDDS	HP:0000006	Autosomal dominant inheritance	-	OMIM:617836
79947	DHDDS	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
79947	DHDDS	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
79947	DHDDS	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
79947	DHDDS	HP:0007663	Reduced visual acuity	3/3	OMIM:613861
79947	DHDDS	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
79947	DHDDS	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
79947	DHDDS	HP:0008936	Axial hypotonia	-	OMIM:613861
79947	DHDDS	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0002069	Bilateral tonic-clonic seizure	3/8	OMIM:617836
79947	DHDDS	HP:0002067	Bradykinesia	-	OMIM:617836
79947	DHDDS	HP:0002063	Rigidity	-	OMIM:617836
79947	DHDDS	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0002123	Generalized myoclonic seizure	5/8	OMIM:617836
79947	DHDDS	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
79947	DHDDS	HP:0002240	Hepatomegaly	-	OMIM:613861
79947	DHDDS	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0200134	Epileptic encephalopathy	7/7	OMIM:617836
79947	DHDDS	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0011968	Feeding difficulties	-	OMIM:613861
79947	DHDDS	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0007099	Chiari type I malformation	1/8	OMIM:617836
79947	DHDDS	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
79947	DHDDS	HP:0002353	EEG abnormality	-	OMIM:617836
79947	DHDDS	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
79947	DHDDS	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0003621	Juvenile onset	8/19	OMIM:180100
79947	DHDDS	HP:0003621	Juvenile onset	3/3	OMIM:613861
79947	DHDDS	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
79947	DHDDS	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
79947	DHDDS	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
79947	DHDDS	HP:0000618	Blindness	HP:0040281	ORPHA:791
79947	DHDDS	HP:0000613	Photophobia	HP:0040281	ORPHA:791
79947	DHDDS	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
79947	DHDDS	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
79947	DHDDS	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
79947	DHDDS	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
79947	DHDDS	HP:0000662	Nyctalopia	3/3	OMIM:613861
79947	DHDDS	HP:0000662	Nyctalopia	26/28	OMIM:180100
79947	DHDDS	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
79947	DHDDS	HP:0004322	Short stature	HP:0040284	OMIM:617836
79947	DHDDS	HP:0004322	Short stature	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0000750	Delayed speech and language development	-	OMIM:617836
79947	DHDDS	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
79947	DHDDS	HP:0000717	Autism	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0011463	Childhood onset	3/19	OMIM:180100
79947	DHDDS	HP:0011462	Young adult onset	8/19	OMIM:180100
79947	DHDDS	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
79947	DHDDS	HP:0030786	Photopsia	HP:0040283	ORPHA:791
79947	DHDDS	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
79947	DHDDS	HP:0011505	Cystoid macular edema	HP:0040283	OMIM:613861
79947	DHDDS	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
79947	DHDDS	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
79947	DHDDS	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
79947	DHDDS	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
79947	DHDDS	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
79947	DHDDS	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
79947	DHDDS	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0001508	Failure to thrive	-	OMIM:613861
79947	DHDDS	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
79947	DHDDS	HP:0001511	Intrauterine growth retardation	-	OMIM:613861
79947	DHDDS	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
79947	DHDDS	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
79947	DHDDS	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:613861
79947	DHDDS	HP:0000348	High forehead	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0011150	Myoclonic absence seizure	2/8	OMIM:617836
79947	DHDDS	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
79947	DHDDS	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
79947	DHDDS	HP:0000407	Sensorineural hearing impairment	-	OMIM:613861
79947	DHDDS	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
79947	DHDDS	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
79947	DHDDS	HP:0000510	Rod-cone dystrophy	3/3	OMIM:613861
79947	DHDDS	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
79947	DHDDS	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
79947	DHDDS	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
79947	DHDDS	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
79947	DHDDS	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
79947	DHDDS	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
79947	DHDDS	HP:0000575	Scotoma	5/18	OMIM:180100
79947	DHDDS	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
79947	DHDDS	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
79947	DHDDS	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
79947	DHDDS	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
79947	DHDDS	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
79947	DHDDS	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
79947	DHDDS	HP:0000543	Optic disc pallor	1/1	OMIM:180100
79947	DHDDS	HP:0000545	Myopia	-	OMIM:180100
79955	PDZD7	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
79955	PDZD7	HP:0001251	Ataxia	HP:0040283	ORPHA:231178
79955	PDZD7	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:231178
79955	PDZD7	HP:0000007	Autosomal recessive inheritance	-	OMIM:276901
79955	PDZD7	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
79955	PDZD7	HP:0000007	Autosomal recessive inheritance	20/20	OMIM:618003
79955	PDZD7	HP:0000007	Autosomal recessive inheritance	-	OMIM:605472
79955	PDZD7	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
79955	PDZD7	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:231178
79955	PDZD7	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
79955	PDZD7	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
79955	PDZD7	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:231178
79955	PDZD7	HP:0003593	Infantile onset	-	OMIM:618003
79955	PDZD7	HP:0100753	Schizophrenia	HP:0040283	ORPHA:231178
79955	PDZD7	HP:0008527	Congenital sensorineural hearing impairment	-	OMIM:276901
79955	PDZD7	HP:0008527	Congenital sensorineural hearing impairment	-	OMIM:605472
79955	PDZD7	HP:0003621	Juvenile onset	8/19	OMIM:180100
79955	PDZD7	HP:0000639	Nystagmus	HP:0040283	ORPHA:231178
79955	PDZD7	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:231178
79955	PDZD7	HP:0000691	Microdontia	HP:0040283	ORPHA:231178
79955	PDZD7	HP:0000662	Nyctalopia	HP:0040281	ORPHA:231178
79955	PDZD7	HP:0000662	Nyctalopia	26/28	OMIM:180100
79955	PDZD7	HP:0000670	Carious teeth	HP:0040283	ORPHA:231178
79955	PDZD7	HP:0000738	Hallucinations	HP:0040283	ORPHA:231178
79955	PDZD7	HP:0000739	Anxiety	HP:0040283	ORPHA:231178
79955	PDZD7	HP:0000716	Depression	HP:0040283	ORPHA:231178
79955	PDZD7	HP:0011463	Childhood onset	3/19	OMIM:180100
79955	PDZD7	HP:0011463	Childhood onset	-	OMIM:618003
79955	PDZD7	HP:0011462	Young adult onset	8/19	OMIM:180100
79955	PDZD7	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
79955	PDZD7	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:231178
79955	PDZD7	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
79955	PDZD7	HP:0011073	Abnormality of dental color	HP:0040283	ORPHA:231178
79955	PDZD7	HP:0012377	Hemianopia	HP:0040281	ORPHA:231178
79955	PDZD7	HP:0000365	Hearing impairment	12/12	OMIM:618003
79955	PDZD7	HP:0000359	Abnormality of the inner ear	HP:0040281	ORPHA:231178
79955	PDZD7	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:618003
79955	PDZD7	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:231178
79955	PDZD7	HP:0000479	Abnormal retinal morphology	0/1	OMIM:618003
79955	PDZD7	HP:0001751	Abnormal vestibular function	0/3	OMIM:618003
79955	PDZD7	HP:0000518	Cataract	HP:0040282	ORPHA:231178
79955	PDZD7	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
79955	PDZD7	HP:0000510	Rod-cone dystrophy	-	OMIM:276901
79955	PDZD7	HP:0000510	Rod-cone dystrophy	-	OMIM:605472
79955	PDZD7	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:231178
79955	PDZD7	HP:0000505	Visual impairment	0/4	OMIM:618003
79955	PDZD7	HP:0000575	Scotoma	5/18	OMIM:180100
79955	PDZD7	HP:0000575	Scotoma	HP:0040281	ORPHA:231178
79955	PDZD7	HP:0000572	Visual loss	HP:0040281	ORPHA:231178
79955	PDZD7	HP:0000543	Optic disc pallor	1/1	OMIM:180100
79955	PDZD7	HP:0000545	Myopia	-	OMIM:180100
79955	PDZD7	HP:0000545	Myopia	HP:0040282	ORPHA:231178
79966	SCD5	HP:0000006	Autosomal dominant inheritance	-	OMIM:619086
79966	SCD5	HP:0003581	Adult onset	19/19	OMIM:619086
79966	SCD5	HP:0000408	Progressive sensorineural hearing impairment	19/19	OMIM:619086
79966	SCD5	HP:0001751	Abnormal vestibular function	0/19	OMIM:619086
79971	WLS	HP:0010862	Delayed fine motor development	3/10	OMIM:619648
79971	WLS	HP:0100807	Long fingers	3/8	OMIM:619648
79971	WLS	HP:0001276	Hypertonia	1/8	OMIM:619648
79971	WLS	HP:0001250	Seizure	1/10	OMIM:619648
79971	WLS	HP:0001252	Hypotonia	2/8	OMIM:619648
79971	WLS	HP:0001249	Intellectual disability	8/10	OMIM:619648
79971	WLS	HP:0001347	Hyperreflexia	1/8	OMIM:619648
79971	WLS	HP:0000007	Autosomal recessive inheritance	-	OMIM:619648
79971	WLS	HP:0001320	Cerebellar vermis hypoplasia	3/5	OMIM:619648
79971	WLS	HP:0002650	Scoliosis	2/9	OMIM:619648
79971	WLS	HP:0000154	Wide mouth	8/8	OMIM:619648
79971	WLS	HP:0000126	Hydronephrosis	1/9	OMIM:619648
79971	WLS	HP:0000104	Renal agenesis	1/9	OMIM:619648
79971	WLS	HP:0002064	Spastic gait	1/10	OMIM:619648
79971	WLS	HP:0002079	Hypoplasia of the corpus callosum	3/5	OMIM:619648
79971	WLS	HP:0002198	Dilated fourth ventricle	2/5	OMIM:619648
79971	WLS	HP:0002194	Delayed gross motor development	6/10	OMIM:619648
79971	WLS	HP:0003593	Infantile onset	8/10	OMIM:619648
79971	WLS	HP:0003577	Congenital onset	2/10	OMIM:619648
79971	WLS	HP:0002209	Sparse scalp hair	8/8	OMIM:619648
79971	WLS	HP:0002376	Developmental regression	1/10	OMIM:619648
79971	WLS	HP:0002317	Unsteady gait	1/10	OMIM:619648
79971	WLS	HP:0009836	Broad distal phalanx of finger	4/9	OMIM:619648
79971	WLS	HP:0010746	Hypoplasia of the phalanges of the toes	2/8	OMIM:619648
79971	WLS	HP:0004322	Short stature	6/9	OMIM:619648
79971	WLS	HP:0004396	Poor appetite	3/9	OMIM:619648
79971	WLS	HP:0034185	Median pseudocleft lip	3/8	OMIM:619648
79971	WLS	HP:0000750	Delayed speech and language development	2/10	OMIM:619648
79971	WLS	HP:0000776	Congenital diaphragmatic hernia	1/9	OMIM:619648
79971	WLS	HP:0045075	Sparse eyebrow	3/8	OMIM:619648
79971	WLS	HP:0100257	Ectrodactyly	1/10	OMIM:619648
79971	WLS	HP:0000974	Hyperextensible skin	2/8	OMIM:619648
79971	WLS	HP:0000960	Sacral dimple	1/9	OMIM:619648
79971	WLS	HP:0000252	Microcephaly	9/9	OMIM:619648
79971	WLS	HP:0000218	High palate	8/8	OMIM:619648
79971	WLS	HP:0000384	Preauricular skin tag	1/8	OMIM:619648
79971	WLS	HP:0000378	Cupped ear	8/8	OMIM:619648
79971	WLS	HP:0000340	Sloping forehead	3/8	OMIM:619648
79971	WLS	HP:0000348	High forehead	3/8	OMIM:619648
79971	WLS	HP:0000347	Micrognathia	6/9	OMIM:619648
79971	WLS	HP:0001643	Patent ductus arteriosus	1/8	OMIM:619648
79971	WLS	HP:0000322	Short philtrum	8/8	OMIM:619648
79971	WLS	HP:0001655	Patent foramen ovale	2/8	OMIM:619648
79971	WLS	HP:0006610	Wide intermamillary distance	4/8	OMIM:619648
79971	WLS	HP:0012488	Intraventricular arachnoid cyst	1/5	OMIM:619648
79971	WLS	HP:0005338	Sparse lateral eyebrow	3/8	OMIM:619648
79971	WLS	HP:0000463	Anteverted nares	3/8	OMIM:619648
79971	WLS	HP:0012434	Delayed early-childhood social milestone development	2/10	OMIM:619648
79971	WLS	HP:0001770	Toe syndactyly	5/7	OMIM:619648
79971	WLS	HP:0000445	Wide nose	8/8	OMIM:619648
79971	WLS	HP:0000431	Wide nasal bridge	6/8	OMIM:619648
79971	WLS	HP:0001800	Hypoplastic toenails	2/8	OMIM:619648
79977	GRHL2	HP:0009918	Ectopia pupillae	HP:0040284	OMIM:618031
79977	GRHL2	HP:0009918	Ectopia pupillae	HP:0040284	ORPHA:98973
79977	GRHL2	HP:0025358	Uveal ectropion	HP:0040283	ORPHA:98973
79977	GRHL2	HP:0012040	Corneal stromal edema	HP:0040283	ORPHA:98973
79977	GRHL2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616029
79977	GRHL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:618031
79977	GRHL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:608641
79977	GRHL2	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:98973
79977	GRHL2	HP:0007663	Reduced visual acuity	-	OMIM:618031
79977	GRHL2	HP:0006297	Enamel hypoplasia	6/6	OMIM:616029
79977	GRHL2	HP:0002015	Dysphagia	2/6	OMIM:616029
79977	GRHL2	HP:0002099	Asthma	3/6	OMIM:616029
79977	GRHL2	HP:0002043	Esophageal stricture	2/6	OMIM:616029
79977	GRHL2	HP:0003593	Infantile onset	6/6	OMIM:616029
79977	GRHL2	HP:0008404	Nail dystrophy	6/6	OMIM:616029
79977	GRHL2	HP:0003676	Progressive	-	OMIM:608641
79977	GRHL2	HP:0200026	Ocular pain	HP:0040284	ORPHA:98973
79977	GRHL2	HP:0025092	Epidermal acanthosis	3/3	OMIM:616029
79977	GRHL2	HP:0200065	Chorioretinal degeneration	HP:0040284	ORPHA:98973
79977	GRHL2	HP:0032122	Very low visual acuity	HP:0040283	ORPHA:98973
79977	GRHL2	HP:0100692	Increased corneal curvature	HP:0040283	ORPHA:98973
79977	GRHL2	HP:0000632	Lacrimation abnormality	HP:0040284	ORPHA:98973
79977	GRHL2	HP:0000646	Amblyopia	HP:0040283	ORPHA:98973
79977	GRHL2	HP:0000613	Photophobia	HP:0040284	ORPHA:98973
79977	GRHL2	HP:0000622	Blurred vision	HP:0040284	ORPHA:98973
79977	GRHL2	HP:0000684	Delayed eruption of teeth	6/6	OMIM:616029
79977	GRHL2	HP:0000668	Hypodontia	6/6	OMIM:616029
79977	GRHL2	HP:0004322	Short stature	6/6	OMIM:616029
79977	GRHL2	HP:0011491	Reduced number of corneal endothelial cells	HP:0040281	ORPHA:98973
79977	GRHL2	HP:0011490	Abnormal Descemet membrane morphology	HP:0040281	ORPHA:98973
79977	GRHL2	HP:0011483	Anterior synechiae of the anterior chamber	HP:0040283	ORPHA:98973
79977	GRHL2	HP:0000982	Palmoplantar keratoderma	6/6	OMIM:616029
79977	GRHL2	HP:0000962	Hyperkeratosis	-	OMIM:616029
79977	GRHL2	HP:0007957	Corneal opacity	HP:0040284	ORPHA:98973
79977	GRHL2	HP:0007906	Ocular hypertension	HP:0040284	ORPHA:98973
79977	GRHL2	HP:0000407	Sensorineural hearing impairment	3/6	OMIM:616029
79977	GRHL2	HP:0000407	Sensorineural hearing impairment	-	OMIM:608641
79977	GRHL2	HP:0000483	Astigmatism	HP:0040283	ORPHA:98973
79977	GRHL2	HP:0001798	Anonychia	-	OMIM:616029
79977	GRHL2	HP:0000501	Glaucoma	HP:0040284	ORPHA:98973
79977	GRHL2	HP:0000565	Esotropia	HP:0040284	ORPHA:98973
79983	POF1B	HP:0000164	Abnormality of the dentition	2/5	OMIM:300604
79983	POF1B	HP:0001419	X-linked recessive inheritance	-	OMIM:300604
79983	POF1B	HP:0008222	Female infertility	5/5	OMIM:300604
79983	POF1B	HP:0008209	Premature ovarian insufficiency	5/5	OMIM:300604
79983	POF1B	HP:0011462	Young adult onset	5/5	OMIM:300604
79983	POF1B	HP:0000786	Primary amenorrhea	5/5	OMIM:300604
79983	POF1B	HP:0000823	Delayed puberty	-	OMIM:300604
79983	POF1B	HP:0034344	Female-limited expression	-	OMIM:300604
79983	POF1B	HP:0000939	Osteoporosis	2/5	OMIM:300604
79987	SVEP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
79987	SVEP1	HP:0002619	Varicose veins	-	OMIM:153400
79987	SVEP1	HP:0000175	Cleft palate	5/39	OMIM:153400
79987	SVEP1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
79987	SVEP1	HP:0009743	Distichiasis	42/42	OMIM:153400
79987	SVEP1	HP:0001004	Lymphedema	-	OMIM:153400
79987	SVEP1	HP:0100658	Cellulitis	2/6	OMIM:153400
79987	SVEP1	HP:0000613	Photophobia	10/49	OMIM:153400
79987	SVEP1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
79987	SVEP1	HP:0000656	Ectropion	2/43	OMIM:153400
79987	SVEP1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
79987	SVEP1	HP:0012804	Corneal ulceration	-	OMIM:153400
79987	SVEP1	HP:0010310	Chylothorax	1/6	OMIM:153400
79987	SVEP1	HP:0011675	Arrhythmia	-	OMIM:153400
79987	SVEP1	HP:0002808	Kyphosis	2/5	OMIM:153400
79987	SVEP1	HP:0000204	Cleft upper lip	-	OMIM:153400
79987	SVEP1	HP:0000347	Micrognathia	2/5	OMIM:153400
79987	SVEP1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
79987	SVEP1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
79987	SVEP1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
79987	SVEP1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
79987	SVEP1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
79987	SVEP1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
79987	SVEP1	HP:0000465	Webbed neck	6/43	OMIM:153400
79987	SVEP1	HP:0000509	Conjunctivitis	-	OMIM:153400
79987	SVEP1	HP:0000508	Ptosis	2/39	OMIM:153400
79987	SVEP1	HP:0000568	Microphthalmia	1/6	OMIM:153400
79989	IFT56	HP:0025116	Fetal distress	1/1	OMIM:619534
79989	IFT56	HP:0001159	Syndactyly	2/7	OMIM:619534
79989	IFT56	HP:0003774	Stage 5 chronic kidney disease	1/6	OMIM:619534
79989	IFT56	HP:0010946	Dilatation of the renal pelvis	1/6	OMIM:619534
79989	IFT56	HP:0002410	Aqueductal stenosis	1/1	OMIM:619534
79989	IFT56	HP:0033542	Bronchial wall thickening	1/6	OMIM:619534
79989	IFT56	HP:0001250	Seizure	1/6	OMIM:619534
79989	IFT56	HP:0001252	Hypotonia	1/1	OMIM:619534
79989	IFT56	HP:0001263	Global developmental delay	4/6	OMIM:619534
79989	IFT56	HP:0001257	Spasticity	1/6	OMIM:619534
79989	IFT56	HP:0007430	Generalized edema	1/6	OMIM:619534
79989	IFT56	HP:0033614	Tracheal bronchus	1/6	OMIM:619534
79989	IFT56	HP:0003811	Neonatal death	1/6	OMIM:619534
79989	IFT56	HP:0000083	Renal insufficiency	2/6	OMIM:619534
79989	IFT56	HP:0001396	Cholestasis	2/6	OMIM:619534
79989	IFT56	HP:0001395	Hepatic fibrosis	1/6	OMIM:619534
79989	IFT56	HP:0001394	Cirrhosis	1/6	OMIM:619534
79989	IFT56	HP:0001382	Joint hypermobility	1/1	OMIM:619534
79989	IFT56	HP:0012020	Right aortic arch	1/6	OMIM:619534
79989	IFT56	HP:0000023	Inguinal hernia	2/6	OMIM:619534
79989	IFT56	HP:0000007	Autosomal recessive inheritance	-	OMIM:619534
79989	IFT56	HP:0002612	Congenital hepatic fibrosis	1/6	OMIM:619534
79989	IFT56	HP:0002613	Biliary cirrhosis	1/6	OMIM:619534
79989	IFT56	HP:0002783	Recurrent lower respiratory tract infections	1/6	OMIM:619534
79989	IFT56	HP:0000126	Hydronephrosis	1/6	OMIM:619534
79989	IFT56	HP:0001409	Portal hypertension	1/6	OMIM:619534
79989	IFT56	HP:0001408	Bile duct proliferation	1/6	OMIM:619534
79989	IFT56	HP:0002020	Gastroesophageal reflux	1/1	OMIM:619534
79989	IFT56	HP:0040319	Dark urine	1/6	OMIM:619534
79989	IFT56	HP:0002007	Frontal bossing	1/1	OMIM:619534
79989	IFT56	HP:0002099	Asthma	1/6	OMIM:619534
79989	IFT56	HP:0002092	Pulmonary arterial hypertension	1/6	OMIM:619534
79989	IFT56	HP:0030948	Elevated gamma-glutamyltransferase level	6/6	OMIM:619534
79989	IFT56	HP:0002040	Esophageal varix	1/6	OMIM:619534
79989	IFT56	HP:0010445	Primum atrial septal defect	2/7	OMIM:619534
79989	IFT56	HP:0010442	Polydactyly	4/7	OMIM:619534
79989	IFT56	HP:0033149	Intrahepatic bile duct dilatation	1/1	OMIM:619534
79989	IFT56	HP:0002151	Increased circulating lactate concentration	1/6	OMIM:619534
79989	IFT56	HP:0003429	CNS hypomyelination	1/6	OMIM:619534
79989	IFT56	HP:0004719	Hyperechogenic kidneys	2/6	OMIM:619534
79989	IFT56	HP:0003593	Infantile onset	2/6	OMIM:619534
79989	IFT56	HP:0003577	Congenital onset	4/6	OMIM:619534
79989	IFT56	HP:0002240	Hepatomegaly	6/6	OMIM:619534
79989	IFT56	HP:0002205	Recurrent respiratory infections	1/1	OMIM:619534
79989	IFT56	HP:0010627	Anterior pituitary hypoplasia	1/1	OMIM:619534
79989	IFT56	HP:0004976	Knee dislocation	1/1	OMIM:619534
79989	IFT56	HP:0010774	Cor triatriatum	1/6	OMIM:619534
79989	IFT56	HP:0004927	Pulmonary artery dilatation	1/6	OMIM:619534
79989	IFT56	HP:0010068	Broad first metatarsal	1/6	OMIM:619534
79989	IFT56	HP:0006892	Frontotemporal cerebral atrophy	1/6	OMIM:619534
79989	IFT56	HP:0001942	Metabolic acidosis	1/6	OMIM:619534
79989	IFT56	HP:0011344	Severe global developmental delay	1/1	OMIM:619534
79989	IFT56	HP:0011304	Broad thumb	1/6	OMIM:619534
79989	IFT56	HP:0004322	Short stature	1/6	OMIM:619534
79989	IFT56	HP:0031956	Elevated circulating aspartate aminotransferase concentration	6/6	OMIM:619534
79989	IFT56	HP:0031964	Elevated circulating alanine aminotransferase concentration	5/6	OMIM:619534
79989	IFT56	HP:0006956	Lateral ventricle dilatation	1/6	OMIM:619534
79989	IFT56	HP:0003073	Hypoalbuminemia	5/6	OMIM:619534
79989	IFT56	HP:0012766	Widened cerebral subarachnoid space	1/6	OMIM:619534
79989	IFT56	HP:0003124	Hypercholesterolemia	1/6	OMIM:619534
79989	IFT56	HP:0003155	Elevated circulating alkaline phosphatase concentration	5/6	OMIM:619534
79989	IFT56	HP:0000873	Diabetes insipidus	1/1	OMIM:619534
79989	IFT56	HP:0011579	Unbalanced atrioventricular canal defect	1/6	OMIM:619534
79989	IFT56	HP:0011565	Common atrium	1/6	OMIM:619534
79989	IFT56	HP:0003270	Abdominal distention	1/6	OMIM:619534
79989	IFT56	HP:0003281	Increased circulating ferritin concentration	1/6	OMIM:619534
79989	IFT56	HP:0003259	Elevated circulating creatinine concentration	2/6	OMIM:619534
79989	IFT56	HP:0100259	Postaxial polydactyly	1/6	OMIM:619534
79989	IFT56	HP:0011622	Inlet ventricular septal defect	1/6	OMIM:619534
79989	IFT56	HP:0000952	Jaundice	7/7	OMIM:619534
79989	IFT56	HP:0000969	Edema	0/1	OMIM:619534
79989	IFT56	HP:0000938	Osteopenia	1/6	OMIM:619534
79989	IFT56	HP:0000276	Long face	1/6	OMIM:619534
79989	IFT56	HP:0000238	Hydrocephalus	2/7	OMIM:619534
79989	IFT56	HP:0001561	Polyhydramnios	3/7	OMIM:619534
79989	IFT56	HP:0000232	Everted lower lip vermilion	1/6	OMIM:619534
79989	IFT56	HP:0001541	Ascites	2/6	OMIM:619534
79989	IFT56	HP:0031358	Vegetative state	1/1	OMIM:619534
79989	IFT56	HP:0001508	Failure to thrive	1/6	OMIM:619534
79989	IFT56	HP:0012382	Left-to-right shunt	1/1	OMIM:619534
79989	IFT56	HP:0012383	Bidirectional shunt	1/6	OMIM:619534
79989	IFT56	HP:0006579	Prolonged neonatal jaundice	2/6	OMIM:619534
79989	IFT56	HP:0001612	Weak cry	1/1	OMIM:619534
79989	IFT56	HP:0005180	Tricuspid regurgitation	1/6	OMIM:619534
79989	IFT56	HP:0002908	Conjugated hyperbilirubinemia	6/6	OMIM:619534
79989	IFT56	HP:0002904	Hyperbilirubinemia	1/6	OMIM:619534
79989	IFT56	HP:0001696	Situs inversus totalis	1/6	OMIM:619534
79989	IFT56	HP:0000365	Hearing impairment	1/6	OMIM:619534
79989	IFT56	HP:0001695	Cardiac arrest	1/6	OMIM:619534
79989	IFT56	HP:0000369	Low-set ears	1/1	OMIM:619534
79989	IFT56	HP:0001684	Secundum atrial septal defect	1/6	OMIM:619534
79989	IFT56	HP:0001651	Dextrocardia	1/6	OMIM:619534
79989	IFT56	HP:0000316	Hypertelorism	1/6	OMIM:619534
79989	IFT56	HP:0001643	Patent ductus arteriosus	2/7	OMIM:619534
79989	IFT56	HP:0000311	Round face	1/6	OMIM:619534
79989	IFT56	HP:0001659	Aortic regurgitation	1/6	OMIM:619534
79989	IFT56	HP:0001655	Patent foramen ovale	2/6	OMIM:619534
79989	IFT56	HP:0001629	Ventricular septal defect	1/6	OMIM:619534
79989	IFT56	HP:0006695	Atrioventricular canal defect	1/1	OMIM:619534
79989	IFT56	HP:0005280	Depressed nasal bridge	2/6	OMIM:619534
79989	IFT56	HP:0000490	Deeply set eye	2/7	OMIM:619534
79989	IFT56	HP:0000463	Anteverted nares	1/6	OMIM:619534
79989	IFT56	HP:0012408	Medullary nephrocalcinosis	1/6	OMIM:619534
79989	IFT56	HP:0000411	Protruding ear	1/6	OMIM:619534
79989	IFT56	HP:0001744	Splenomegaly	4/6	OMIM:619534
79989	IFT56	HP:0000582	Upslanted palpebral fissure	1/6	OMIM:619534
79989	IFT56	HP:0000589	Coloboma	0/1	OMIM:619534
79991	STN1	HP:0025175	Honeycomb lung	HP:0040282	ORPHA:2032
79991	STN1	HP:0025179	Ground-glass opacification	HP:0040282	ORPHA:2032
79991	STN1	HP:0001251	Ataxia	1/2	OMIM:617341
79991	STN1	HP:0001257	Spasticity	1/2	OMIM:617341
79991	STN1	HP:0032341	Reduced forced vital capacity	HP:0040282	ORPHA:2032
79991	STN1	HP:0001395	Hepatic fibrosis	2/2	OMIM:617341
79991	STN1	HP:0025390	Reticular pattern on pulmonary HRCT	HP:0040282	ORPHA:2032
79991	STN1	HP:0001332	Dystonia	1/2	OMIM:617341
79991	STN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617341
79991	STN1	HP:0001409	Portal hypertension	2/2	OMIM:617341
79991	STN1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2032
79991	STN1	HP:0002040	Esophageal varix	2/2	OMIM:617341
79991	STN1	HP:0010444	Pulmonic regurgitation	HP:0040283	ORPHA:2032
79991	STN1	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:2032
79991	STN1	HP:0002239	Gastrointestinal hemorrhage	2/2	OMIM:617341
79991	STN1	HP:0002216	Premature graying of hair	2/2	OMIM:617341
79991	STN1	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:2032
79991	STN1	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:2032
79991	STN1	HP:0100759	Clubbing of fingers	HP:0040282	ORPHA:2032
79991	STN1	HP:0033367	Orthodeoxia	HP:0040283	ORPHA:2032
79991	STN1	HP:0001063	Acrocyanosis	HP:0040282	ORPHA:2032
79991	STN1	HP:0003621	Juvenile onset	1/2	OMIM:617341
79991	STN1	HP:0005528	Bone marrow hypocellularity	2/2	OMIM:617341
79991	STN1	HP:0031950	Usual interstitial pneumonia	HP:0040282	ORPHA:2032
79991	STN1	HP:0012735	Cough	HP:0040282	ORPHA:2032
79991	STN1	HP:0011463	Childhood onset	1/2	OMIM:617341
79991	STN1	HP:0045051	Decreased DLCO	HP:0040282	ORPHA:2032
79991	STN1	HP:0030830	Crackles	HP:0040282	ORPHA:2032
79991	STN1	HP:0000938	Osteopenia	2/2	OMIM:617341
79991	STN1	HP:0033044	Motor regression	1/2	OMIM:617341
79991	STN1	HP:0007763	Retinal telangiectasia	1/2	OMIM:617341
79991	STN1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:2032
79991	STN1	HP:0001511	Intrauterine growth retardation	2/2	OMIM:617341
79991	STN1	HP:0001510	Growth delay	2/2	OMIM:617341
79991	STN1	HP:0012378	Fatigue	HP:0040282	ORPHA:2032
79991	STN1	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040281	ORPHA:2032
79991	STN1	HP:0031631	Subpleural honeycombing	HP:0040282	ORPHA:2032
79991	STN1	HP:0031545	Abnormally low T cell receptor excision circle level	2/2	OMIM:617341
79991	STN1	HP:0001876	Pancytopenia	2/2	OMIM:617341
80000	GREB1L	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1848
80000	GREB1L	HP:0003829	Typified by incomplete penetrance	-	OMIM:617805
80000	GREB1L	HP:0000085	Horseshoe kidney	-	OMIM:617805
80000	GREB1L	HP:0000076	Vesicoureteral reflux	HP:0040284	OMIM:617805
80000	GREB1L	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:1848
80000	GREB1L	HP:0000003	Multicystic kidney dysplasia	-	OMIM:617805
80000	GREB1L	HP:0000006	Autosomal dominant inheritance	-	OMIM:617805
80000	GREB1L	HP:0000006	Autosomal dominant inheritance	-	OMIM:619274
80000	GREB1L	HP:0000175	Cleft palate	HP:0040283	ORPHA:1848
80000	GREB1L	HP:0000130	Abnormality of the uterus	-	OMIM:617805
80000	GREB1L	HP:0000126	Hydronephrosis	HP:0040284	OMIM:617805
80000	GREB1L	HP:0000110	Renal dysplasia	-	OMIM:617805
80000	GREB1L	HP:0000104	Renal agenesis	HP:0040281	ORPHA:1848
80000	GREB1L	HP:0000104	Renal agenesis	11/14	OMIM:617805
80000	GREB1L	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:1848
80000	GREB1L	HP:0100589	Urogenital fistula	HP:0040282	ORPHA:1848
80000	GREB1L	HP:0010497	Sirenomelia	HP:0040283	ORPHA:1848
80000	GREB1L	HP:0003577	Congenital onset	11/11	OMIM:617805
80000	GREB1L	HP:0003577	Congenital onset	2/2	OMIM:619274
80000	GREB1L	HP:0002242	Abnormal intestine morphology	HP:0040282	ORPHA:1848
80000	GREB1L	HP:0008527	Congenital sensorineural hearing impairment	2/2	OMIM:619274
80000	GREB1L	HP:0001958	Nonketotic hypoglycemia	HP:0040281	ORPHA:1848
80000	GREB1L	HP:0011379	Dilated vestibule of the inner ear	2/2	OMIM:619274
80000	GREB1L	HP:0011380	Abnormal semicircular canal morphology	2/2	OMIM:619274
80000	GREB1L	HP:0011375	Cochlear aplasia	2/2	OMIM:619274
80000	GREB1L	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:1848
80000	GREB1L	HP:0100335	Non-midline cleft of the upper lip	HP:0040283	ORPHA:1848
80000	GREB1L	HP:6000988	Cochlear nerve aplasia	-	OMIM:619274
80000	GREB1L	HP:0000286	Epicanthus	HP:0040281	ORPHA:1848
80000	GREB1L	HP:0005107	Abnormal sacrum morphology	HP:0040282	ORPHA:1848
80000	GREB1L	HP:0001562	Oligohydramnios	HP:0040281	ORPHA:1848
80000	GREB1L	HP:0001563	Fetal polyuria	HP:0040282	ORPHA:1848
80000	GREB1L	HP:0000369	Low-set ears	HP:0040281	ORPHA:1848
80000	GREB1L	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1848
80000	GREB1L	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:1848
80025	PANK2	HP:0002493	Upper motor neuron dysfunction	HP:0040282	ORPHA:216873
80025	PANK2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
80025	PANK2	HP:0002454	Eye of the tiger anomaly of globus pallidus	HP:0040282	ORPHA:216866
80025	PANK2	HP:0002454	Eye of the tiger anomaly of globus pallidus	15/15	OMIM:234200
80025	PANK2	HP:0002451	Limb dystonia	HP:0040282	ORPHA:216873
80025	PANK2	HP:0007325	Generalized dystonia	HP:0040282	ORPHA:216866
80025	PANK2	HP:0007313	Cerebral degeneration	-	OMIM:234200
80025	PANK2	HP:0007256	Abnormal pyramidal sign	12/14	OMIM:234200
80025	PANK2	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:216873
80025	PANK2	HP:0001268	Mental deterioration	25/68	OMIM:234200
80025	PANK2	HP:0001288	Gait disturbance	18/18	OMIM:234200
80025	PANK2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:216873
80025	PANK2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:216866
80025	PANK2	HP:0001250	Seizure	1/1	OMIM:234200
80025	PANK2	HP:0001250	Seizure	HP:0040284	ORPHA:216866
80025	PANK2	HP:0001251	Ataxia	-	OMIM:234200
80025	PANK2	HP:0001249	Intellectual disability	0/1	OMIM:234200
80025	PANK2	HP:0001266	Choreoathetosis	51/52	OMIM:234200
80025	PANK2	HP:0001260	Dysarthria	65/66	OMIM:234200
80025	PANK2	HP:0001260	Dysarthria	HP:0040282	ORPHA:216873
80025	PANK2	HP:0001260	Dysarthria	HP:0040282	ORPHA:216866
80025	PANK2	HP:0001263	Global developmental delay	5/34	OMIM:234200
80025	PANK2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:216866
80025	PANK2	HP:0001257	Spasticity	13/52	OMIM:234200
80025	PANK2	HP:0001257	Spasticity	HP:0040282	ORPHA:216873
80025	PANK2	HP:0001257	Spasticity	HP:0040282	ORPHA:216866
80025	PANK2	HP:0008770	Obsessive-compulsive trait	7/14	OMIM:234200
80025	PANK2	HP:0008760	Violent behavior	HP:0040282	ORPHA:216873
80025	PANK2	HP:0002540	Inability to walk	HP:0040282	ORPHA:216866
80025	PANK2	HP:0002533	Abnormal posturing	HP:0040282	ORPHA:216866
80025	PANK2	HP:0002505	Loss of ambulation	5/14	OMIM:234200
80025	PANK2	HP:0012048	Oromandibular dystonia	HP:0040283	ORPHA:216873
80025	PANK2	HP:0000020	Urinary incontinence	-	OMIM:234200
80025	PANK2	HP:0001347	Hyperreflexia	13/52	OMIM:234200
80025	PANK2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:216873
80025	PANK2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:216866
80025	PANK2	HP:0008872	Feeding difficulties in infancy	-	OMIM:234200
80025	PANK2	HP:0001332	Dystonia	66/67	OMIM:234200
80025	PANK2	HP:0002659	Increased susceptibility to fractures	HP:0040282	ORPHA:216866
80025	PANK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:234200
80025	PANK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
80025	PANK2	HP:0001337	Tremor	2/14	OMIM:234200
80025	PANK2	HP:0001337	Tremor	HP:0040283	ORPHA:216873
80025	PANK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
80025	PANK2	HP:0001300	Parkinsonism	-	OMIM:234200
80025	PANK2	HP:0001300	Parkinsonism	HP:0040282	ORPHA:216873
80025	PANK2	HP:0000157	Abnormality of the tongue	HP:0040282	ORPHA:216866
80025	PANK2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
80025	PANK2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
80025	PANK2	HP:0002015	Dysphagia	5/14	OMIM:234200
80025	PANK2	HP:0002015	Dysphagia	HP:0040283	ORPHA:216873
80025	PANK2	HP:0002015	Dysphagia	HP:0040282	ORPHA:216866
80025	PANK2	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:216873
80025	PANK2	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:216866
80025	PANK2	HP:0002067	Bradykinesia	-	OMIM:234200
80025	PANK2	HP:0002063	Rigidity	60/67	OMIM:234200
80025	PANK2	HP:0002063	Rigidity	HP:0040282	ORPHA:216873
80025	PANK2	HP:0002072	Chorea	1/1	OMIM:234200
80025	PANK2	HP:0002072	Chorea	HP:0040283	ORPHA:216873
80025	PANK2	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:234200
80025	PANK2	HP:0003487	Babinski sign	13/52	OMIM:234200
80025	PANK2	HP:0002120	Cerebral cortical atrophy	1/1	OMIM:234200
80025	PANK2	HP:0002180	Neurodegeneration	-	OMIM:234200
80025	PANK2	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:216873
80025	PANK2	HP:0002179	Opisthotonus	HP:0040283	ORPHA:216866
80025	PANK2	HP:0003593	Infantile onset	2/16	OMIM:234200
80025	PANK2	HP:0100710	Impulsivity	HP:0040282	ORPHA:216873
80025	PANK2	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:216866
80025	PANK2	HP:0002283	Global brain atrophy	-	OMIM:234200
80025	PANK2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:216866
80025	PANK2	HP:0011951	Aspiration pneumonia	HP:0040283	ORPHA:216866
80025	PANK2	HP:0002359	Frequent falls	HP:0040284	ORPHA:216873
80025	PANK2	HP:0002359	Frequent falls	HP:0040282	ORPHA:216866
80025	PANK2	HP:0002370	Poor coordination	1/1	OMIM:234200
80025	PANK2	HP:0003678	Rapidly progressive	-	OMIM:234200
80025	PANK2	HP:0002312	Clumsiness	HP:0040284	ORPHA:216873
80025	PANK2	HP:0002310	Orofacial dyskinesia	-	OMIM:234200
80025	PANK2	HP:0002304	Akinesia	2/16	OMIM:234200
80025	PANK2	HP:0003621	Juvenile onset	8/19	OMIM:180100
80025	PANK2	HP:0003621	Juvenile onset	9/14	OMIM:234200
80025	PANK2	HP:0031814	Palilalia	-	OMIM:234200
80025	PANK2	HP:0000648	Optic atrophy	3/80	OMIM:234200
80025	PANK2	HP:0000648	Optic atrophy	HP:0040284	ORPHA:216873
80025	PANK2	HP:0000643	Blepharospasm	-	OMIM:234200
80025	PANK2	HP:0000618	Blindness	HP:0040284	ORPHA:216873
80025	PANK2	HP:0000618	Blindness	HP:0040284	ORPHA:216866
80025	PANK2	HP:0001927	Acanthocytosis	6/66	OMIM:234200
80025	PANK2	HP:0012675	Iron accumulation in brain	HP:0040282	ORPHA:216866
80025	PANK2	HP:0000662	Nyctalopia	26/28	OMIM:180100
80025	PANK2	HP:0000658	Eyelid apraxia	-	OMIM:234200
80025	PANK2	HP:0004373	Focal dystonia	HP:0040282	ORPHA:216873
80025	PANK2	HP:0000752	Hyperactivity	4/14	OMIM:234200
80025	PANK2	HP:0012735	Cough	HP:0040283	ORPHA:216866
80025	PANK2	HP:0100035	Phonic tics	1/14	OMIM:234200
80025	PANK2	HP:0100034	Motor tics	2/14	OMIM:234200
80025	PANK2	HP:0000737	Irritability	HP:0040282	ORPHA:216873
80025	PANK2	HP:0000716	Depression	1/17	OMIM:234200
80025	PANK2	HP:0000716	Depression	HP:0040282	ORPHA:216873
80025	PANK2	HP:0000712	Emotional lability	HP:0040282	ORPHA:216873
80025	PANK2	HP:0000726	Dementia	11/24	OMIM:234200
80025	PANK2	HP:0000722	Compulsive behaviors	HP:0040283	ORPHA:216873
80025	PANK2	HP:0000709	Psychosis	HP:0040284	ORPHA:216873
80025	PANK2	HP:0011463	Childhood onset	3/19	OMIM:180100
80025	PANK2	HP:0011463	Childhood onset	4/15	OMIM:234200
80025	PANK2	HP:0011462	Young adult onset	8/19	OMIM:180100
80025	PANK2	HP:0011462	Young adult onset	2/14	OMIM:234200
80025	PANK2	HP:0003198	Myopathy	-	OMIM:234200
80025	PANK2	HP:0003199	Decreased muscle mass	-	OMIM:234200
80025	PANK2	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:234200
80025	PANK2	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:234200
80025	PANK2	HP:0000953	Hyperpigmentation of the skin	-	OMIM:234200
80025	PANK2	HP:0000298	Mask-like facies	HP:0040283	ORPHA:216866
80025	PANK2	HP:0000273	Facial grimacing	-	OMIM:234200
80025	PANK2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
80025	PANK2	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:216866
80025	PANK2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
80025	PANK2	HP:0001618	Dysphonia	-	OMIM:234200
80025	PANK2	HP:0030216	Inertia	HP:0040283	ORPHA:216873
80025	PANK2	HP:0012473	Tongue atrophy	HP:0040284	ORPHA:216873
80025	PANK2	HP:0000488	Retinopathy	HP:0040284	ORPHA:216873
80025	PANK2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
80025	PANK2	HP:0000510	Rod-cone dystrophy	HP:0040282	ORPHA:216866
80025	PANK2	HP:0001824	Weight loss	HP:0040283	ORPHA:216866
80025	PANK2	HP:0000580	Pigmentary retinopathy	4/14	OMIM:234200
80025	PANK2	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:216866
80025	PANK2	HP:0000575	Scotoma	5/18	OMIM:180100
80025	PANK2	HP:0000546	Retinal degeneration	-	OMIM:234200
80025	PANK2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
80025	PANK2	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:216866
80025	PANK2	HP:0000545	Myopia	-	OMIM:180100
80036	TRPM3	HP:0001182	Tapered finger	1/7	OMIM:620224
80036	TRPM3	HP:0009917	Persistent pupillary membrane	3/29	OMIM:620253
80036	TRPM3	HP:0001250	Seizure	8/8	OMIM:620224
80036	TRPM3	HP:0001252	Hypotonia	7/8	OMIM:620224
80036	TRPM3	HP:0001249	Intellectual disability	7/7	OMIM:620224
80036	TRPM3	HP:0001266	Choreoathetosis	1/8	OMIM:620224
80036	TRPM3	HP:0001263	Global developmental delay	8/8	OMIM:620224
80036	TRPM3	HP:0000054	Micropenis	1/8	OMIM:620224
80036	TRPM3	HP:0001385	Hip dysplasia	1/8	OMIM:620224
80036	TRPM3	HP:0001357	Plagiocephaly	1/8	OMIM:620224
80036	TRPM3	HP:0000028	Cryptorchidism	1/8	OMIM:620224
80036	TRPM3	HP:0001344	Absent speech	5/8	OMIM:620224
80036	TRPM3	HP:0000006	Autosomal dominant inheritance	-	OMIM:620224
80036	TRPM3	HP:0000006	Autosomal dominant inheritance	-	OMIM:620253
80036	TRPM3	HP:0002650	Scoliosis	3/8	OMIM:620224
80036	TRPM3	HP:0000154	Wide mouth	1/7	OMIM:620224
80036	TRPM3	HP:0011800	Midface retrusion	1/7	OMIM:620224
80036	TRPM3	HP:0002069	Bilateral tonic-clonic seizure	2/7	OMIM:620224
80036	TRPM3	HP:0002121	Generalized non-motor (absence) seizure	4/7	OMIM:620224
80036	TRPM3	HP:0002119	Ventriculomegaly	1/8	OMIM:620224
80036	TRPM3	HP:0003596	Middle age onset	1/29	OMIM:620253
80036	TRPM3	HP:0003577	Congenital onset	3/29	OMIM:620253
80036	TRPM3	HP:0007021	Pain insensitivity	1/3	OMIM:620224
80036	TRPM3	HP:0007099	Chiari type I malformation	1/8	OMIM:620224
80036	TRPM3	HP:0008445	Cervical spinal canal stenosis	1/8	OMIM:620224
80036	TRPM3	HP:0009778	Short thumb	1/7	OMIM:620224
80036	TRPM3	HP:0002305	Athetosis	1/8	OMIM:620224
80036	TRPM3	HP:0003621	Juvenile onset	13/29	OMIM:620253
80036	TRPM3	HP:0004209	Clinodactyly of the 5th finger	1/7	OMIM:620224
80036	TRPM3	HP:0001943	Hypoglycemia	1/8	OMIM:620224
80036	TRPM3	HP:0010055	Broad hallux	1/7	OMIM:620224
80036	TRPM3	HP:0011304	Broad thumb	1/7	OMIM:620224
80036	TRPM3	HP:0006915	Inability to walk by childhood/adolescence	2/8	OMIM:620224
80036	TRPM3	HP:0031936	Delayed ability to walk	8/8	OMIM:620224
80036	TRPM3	HP:0000767	Pectus excavatum	1/7	OMIM:620224
80036	TRPM3	HP:0000750	Delayed speech and language development	8/8	OMIM:620224
80036	TRPM3	HP:0000729	Autistic behavior	4/6	OMIM:620224
80036	TRPM3	HP:0011463	Childhood onset	4/29	OMIM:620253
80036	TRPM3	HP:0011462	Young adult onset	8/29	OMIM:620253
80036	TRPM3	HP:0003189	Long nose	1/7	OMIM:620224
80036	TRPM3	HP:0004467	Preauricular pit	1/7	OMIM:620224
80036	TRPM3	HP:0030891	Periventricular white matter hyperintensities	1/8	OMIM:620224
80036	TRPM3	HP:0000996	Facial capillary hemangioma	1/7	OMIM:620224
80036	TRPM3	HP:0000294	Low anterior hairline	1/7	OMIM:620224
80036	TRPM3	HP:0000262	Turricephaly	1/7	OMIM:620224
80036	TRPM3	HP:0000218	High palate	1/7	OMIM:620224
80036	TRPM3	HP:0000337	Broad forehead	4/7	OMIM:620224
80036	TRPM3	HP:0000347	Micrognathia	4/7	OMIM:620224
80036	TRPM3	HP:0000322	Short philtrum	3/7	OMIM:620224
80036	TRPM3	HP:0000324	Facial asymmetry	1/7	OMIM:620224
80036	TRPM3	HP:0031491	Continuous spike and waves during slow sleep	1/7	OMIM:620224
80036	TRPM3	HP:0005280	Depressed nasal bridge	1/7	OMIM:620224
80036	TRPM3	HP:0000486	Strabismus	3/8	OMIM:620224
80036	TRPM3	HP:0012469	Infantile spasms	1/7	OMIM:620224
80036	TRPM3	HP:0000490	Deeply set eye	3/7	OMIM:620224
80036	TRPM3	HP:0000463	Anteverted nares	1/7	OMIM:620224
80036	TRPM3	HP:0000473	Torticollis	1/8	OMIM:620224
80036	TRPM3	HP:0000470	Short neck	1/7	OMIM:620224
80036	TRPM3	HP:0001763	Pes planus	1/8	OMIM:620224
80036	TRPM3	HP:0001776	Bilateral talipes equinovarus	2/8	OMIM:620224
80036	TRPM3	HP:0000414	Bulbous nose	2/7	OMIM:620224
80036	TRPM3	HP:0000518	Cataract	24/29	OMIM:620253
80036	TRPM3	HP:0000506	Telecanthus	1/7	OMIM:620224
80036	TRPM3	HP:0000508	Ptosis	2/7	OMIM:620224
80036	TRPM3	HP:0000501	Glaucoma	15/29	OMIM:620253
80036	TRPM3	HP:0000582	Upslanted palpebral fissure	1/7	OMIM:620224
80036	TRPM3	HP:0000577	Exotropia	2/8	OMIM:620224
80036	TRPM3	HP:0000541	Retinal detachment	3/29	OMIM:620253
80055	PGAP1	HP:0100952	Enlarged sylvian cistern	2/3	OMIM:615802
80055	PGAP1	HP:0010864	Intellectual disability, severe	2/2	OMIM:615802
80055	PGAP1	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:401820
80055	PGAP1	HP:0001276	Hypertonia	1/2	OMIM:615802
80055	PGAP1	HP:0001274	Agenesis of corpus callosum	1/2	OMIM:615802
80055	PGAP1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:401820
80055	PGAP1	HP:0001270	Motor delay	3/3	OMIM:615802
80055	PGAP1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:401820
80055	PGAP1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:401820
80055	PGAP1	HP:0001250	Seizure	0/1	OMIM:615802
80055	PGAP1	HP:0001252	Hypotonia	2/3	OMIM:615802
80055	PGAP1	HP:0001249	Intellectual disability	1/2	OMIM:615802
80055	PGAP1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:401820
80055	PGAP1	HP:0001263	Global developmental delay	8/8	OMIM:615802
80055	PGAP1	HP:0001257	Spasticity	2/2	OMIM:615802
80055	PGAP1	HP:0002553	Highly arched eyebrow	1/1	OMIM:615802
80055	PGAP1	HP:0025336	Delayed ability to sit	2/2	OMIM:615802
80055	PGAP1	HP:0001347	Hyperreflexia	2/2	OMIM:615802
80055	PGAP1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:401820
80055	PGAP1	HP:0001344	Absent speech	1/2	OMIM:615802
80055	PGAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615802
80055	PGAP1	HP:0001320	Cerebellar vermis hypoplasia	1/2	OMIM:615802
80055	PGAP1	HP:0001319	Neonatal hypotonia	2/2	OMIM:615802
80055	PGAP1	HP:0000193	Bifid uvula	1/2	OMIM:615802
80055	PGAP1	HP:0000164	Abnormality of the dentition	1/1	OMIM:615802
80055	PGAP1	HP:0000154	Wide mouth	1/1	OMIM:615802
80055	PGAP1	HP:0008936	Axial hypotonia	1/2	OMIM:615802
80055	PGAP1	HP:0006297	Enamel hypoplasia	1/1	OMIM:615802
80055	PGAP1	HP:0002069	Bilateral tonic-clonic seizure	1/2	OMIM:615802
80055	PGAP1	HP:0002064	Spastic gait	HP:0040282	ORPHA:401820
80055	PGAP1	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:401820
80055	PGAP1	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:615802
80055	PGAP1	HP:0002059	Cerebral atrophy	1/1	OMIM:615802
80055	PGAP1	HP:0033128	Delayed ability to crawl	1/2	OMIM:615802
80055	PGAP1	HP:0003487	Babinski sign	2/2	OMIM:615802
80055	PGAP1	HP:0003487	Babinski sign	HP:0040282	ORPHA:401820
80055	PGAP1	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:401820
80055	PGAP1	HP:0002121	Generalized non-motor (absence) seizure	1/2	OMIM:615802
80055	PGAP1	HP:0002188	Delayed CNS myelination	1/1	OMIM:615802
80055	PGAP1	HP:0002162	Low posterior hairline	1/2	OMIM:615802
80055	PGAP1	HP:0003593	Infantile onset	1/2	OMIM:615802
80055	PGAP1	HP:0100704	Cerebral visual impairment	2/2	OMIM:615802
80055	PGAP1	HP:0007020	Progressive spastic paraplegia	HP:0040282	ORPHA:401820
80055	PGAP1	HP:0200085	Limb tremor	HP:0040282	ORPHA:401820
80055	PGAP1	HP:0011968	Feeding difficulties	1/1	OMIM:615802
80055	PGAP1	HP:0002342	Intellectual disability, moderate	1/1	OMIM:615802
80055	PGAP1	HP:0100660	Dyskinesia	1/1	OMIM:615802
80055	PGAP1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:401820
80055	PGAP1	HP:0000639	Nystagmus	1/1	OMIM:615802
80055	PGAP1	HP:0004322	Short stature	1/2	OMIM:615802
80055	PGAP1	HP:0006934	Congenital nystagmus	1/2	OMIM:615802
80055	PGAP1	HP:0030691	Divergence nystagmus	1/1	OMIM:615802
80055	PGAP1	HP:0031936	Delayed ability to walk	5/5	OMIM:615802
80055	PGAP1	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:401820
80055	PGAP1	HP:0000733	Motor stereotypy	2/2	OMIM:615802
80055	PGAP1	HP:0000750	Delayed speech and language development	1/1	OMIM:615802
80055	PGAP1	HP:0000748	Inappropriate laughter	1/2	OMIM:615802
80055	PGAP1	HP:0011471	Gastrostomy tube feeding in infancy	1/1	OMIM:615802
80055	PGAP1	HP:0011463	Childhood onset	1/2	OMIM:615802
80055	PGAP1	HP:0003202	Skeletal muscle atrophy	1/2	OMIM:615802
80055	PGAP1	HP:0000294	Low anterior hairline	1/2	OMIM:615802
80055	PGAP1	HP:0000252	Microcephaly	3/4	OMIM:615802
80055	PGAP1	HP:0001508	Failure to thrive	1/2	OMIM:615802
80055	PGAP1	HP:0000395	Prominent antihelix	1/1	OMIM:615802
80055	PGAP1	HP:0001684	Secundum atrial septal defect	1/2	OMIM:615802
80055	PGAP1	HP:0001642	Pulmonic stenosis	1/2	OMIM:615802
80055	PGAP1	HP:0032989	Delayed ability to roll over	2/2	OMIM:615802
80055	PGAP1	HP:0000400	Macrotia	3/3	OMIM:615802
80055	PGAP1	HP:0005280	Depressed nasal bridge	2/2	OMIM:615802
80055	PGAP1	HP:0000490	Deeply set eye	1/1	OMIM:615802
80055	PGAP1	HP:0012447	Abnormal myelination	HP:0040282	ORPHA:401820
80055	PGAP1	HP:0000470	Short neck	1/1	OMIM:615802
80055	PGAP1	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:615802
80055	PGAP1	HP:0000556	Retinal dystrophy	2/2	OMIM:615802
80067	DCAF17	HP:0001249	Intellectual disability	5/7	OMIM:241080
80067	DCAF17	HP:0001266	Choreoathetosis	-	OMIM:241080
80067	DCAF17	HP:0001260	Dysarthria	-	OMIM:241080
80067	DCAF17	HP:0008734	Decreased testicular size	-	OMIM:241080
80067	DCAF17	HP:0008697	Hypoplasia of the fallopian tube	-	OMIM:241080
80067	DCAF17	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:241080
80067	DCAF17	HP:0000054	Micropenis	1/3	OMIM:241080
80067	DCAF17	HP:0001332	Dystonia	3/7	OMIM:241080
80067	DCAF17	HP:0000013	Hypoplasia of the uterus	-	OMIM:241080
80067	DCAF17	HP:0000007	Autosomal recessive inheritance	-	OMIM:241080
80067	DCAF17	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:241080
80067	DCAF17	HP:0008209	Premature ovarian insufficiency	1/4	OMIM:241080
80067	DCAF17	HP:0002213	Fine hair	-	OMIM:241080
80067	DCAF17	HP:0000674	Anodontia	HP:0040283	OMIM:241080
80067	DCAF17	HP:0003077	Hyperlipidemia	-	OMIM:241080
80067	DCAF17	HP:0000738	Hallucinations	HP:0040283	OMIM:241080
80067	DCAF17	HP:0000709	Psychosis	HP:0040283	OMIM:241080
80067	DCAF17	HP:0000819	Diabetes mellitus	3/7	OMIM:241080
80067	DCAF17	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:241080
80067	DCAF17	HP:0008070	Sparse hair	-	OMIM:241080
80067	DCAF17	HP:0040171	Decreased serum testosterone concentration	-	OMIM:241080
80067	DCAF17	HP:0001596	Alopecia	7/7	OMIM:241080
80067	DCAF17	HP:0005135	Abnormal T-wave	-	OMIM:241080
80067	DCAF17	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	-	OMIM:241080
80067	DCAF17	HP:0000365	Hearing impairment	4/7	OMIM:241080
80067	DCAF17	HP:0000325	Triangular face	HP:0040283	OMIM:241080
80067	DCAF17	HP:0000407	Sensorineural hearing impairment	-	OMIM:241080
80067	DCAF17	HP:0000411	Protruding ear	HP:0040283	OMIM:241080
80067	DCAF17	HP:0000426	Prominent nasal bridge	HP:0040283	OMIM:241080
80067	DCAF17	HP:0030353	Decreased serum insulin-like growth factor 1	-	OMIM:241080
80114	BICC1	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:730
80114	BICC1	HP:0008672	Calcium oxalate nephrolithiasis	HP:0040283	ORPHA:730
80114	BICC1	HP:0000083	Renal insufficiency	HP:0040281	ORPHA:730
80114	BICC1	HP:0000083	Renal insufficiency	-	OMIM:601331
80114	BICC1	HP:0000076	Vesicoureteral reflux	HP:0040283	OMIM:601331
80114	BICC1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:730
80114	BICC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:601331
80114	BICC1	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:730
80114	BICC1	HP:0000110	Renal dysplasia	-	OMIM:601331
80114	BICC1	HP:0000107	Renal cyst	HP:0040281	ORPHA:730
80114	BICC1	HP:0000105	Enlarged kidney	HP:0040283	ORPHA:730
80114	BICC1	HP:0001407	Hepatic cysts	HP:0040281	ORPHA:730
80114	BICC1	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040284	ORPHA:730
80114	BICC1	HP:0004719	Hyperechogenic kidneys	-	OMIM:601331
80114	BICC1	HP:0100702	Arachnoid cyst	HP:0040283	ORPHA:730
80114	BICC1	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:730
80114	BICC1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:730
80114	BICC1	HP:0030674	Antenatal onset	-	OMIM:601331
80114	BICC1	HP:0000800	Cystic renal dysplasia	-	OMIM:601331
80114	BICC1	HP:0000791	Uric acid nephrolithiasis	HP:0040283	ORPHA:730
80114	BICC1	HP:0000790	Hematuria	HP:0040282	ORPHA:730
80114	BICC1	HP:0000822	Hypertension	HP:0040282	ORPHA:730
80114	BICC1	HP:0003259	Elevated circulating creatinine concentration	HP:0040281	ORPHA:730
80114	BICC1	HP:0012213	Decreased glomerular filtration rate	HP:0040281	ORPHA:730
80114	BICC1	HP:0012207	Reduced sperm motility	HP:0040283	ORPHA:730
80114	BICC1	HP:0006557	Polycystic liver disease	HP:0040283	ORPHA:730
80114	BICC1	HP:0011004	Abnormal systemic arterial morphology	HP:0040283	ORPHA:730
80114	BICC1	HP:0012330	Pyelonephritis	HP:0040283	ORPHA:730
80114	BICC1	HP:0030157	Flank pain	HP:0040282	ORPHA:730
80114	BICC1	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:730
80114	BICC1	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:730
80114	BICC1	HP:0012591	Abnormal urinary electrolyte concentration	HP:0040282	ORPHA:730
80114	BICC1	HP:0012592	Albuminuria	HP:0040282	ORPHA:730
80144	FRAS1	HP:0001126	Cryptophthalmos	HP:0040281	ORPHA:2052
80144	FRAS1	HP:0001126	Cryptophthalmos	2/2	OMIM:219000
80144	FRAS1	HP:0002475	Myelomeningocele	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0002475	Myelomeningocele	-	OMIM:219000
80144	FRAS1	HP:0008609	Abnormal middle ear morphology	-	OMIM:219000
80144	FRAS1	HP:0008551	Microtia	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0008559	Hypoplastic superior helix	-	OMIM:219000
80144	FRAS1	HP:6000613	Enlarged fetal lungs	1/1	OMIM:219000
80144	FRAS1	HP:0001250	Seizure	1/2	OMIM:219000
80144	FRAS1	HP:0001249	Intellectual disability	-	OMIM:219000
80144	FRAS1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:2052
80144	FRAS1	HP:0008749	Laryngeal hypoplasia	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0008750	Laryngeal atresia	-	OMIM:219000
80144	FRAS1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0008678	Renal hypoplasia/aplasia	HP:0040281	ORPHA:2052
80144	FRAS1	HP:0008678	Renal hypoplasia/aplasia	-	OMIM:219000
80144	FRAS1	HP:0008665	Clitoral hypertrophy	-	OMIM:219000
80144	FRAS1	HP:0002536	Abnormal cortical gyration	-	OMIM:219000
80144	FRAS1	HP:0000089	Renal hypoplasia	-	OMIM:219000
80144	FRAS1	HP:0000068	Urethral atresia	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0000079	Abnormality of the urinary system	HP:0040281	ORPHA:2052
80144	FRAS1	HP:0000046	Small scrotum	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0000054	Micropenis	-	OMIM:219000
80144	FRAS1	HP:0000047	Hypospadias	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0000047	Hypospadias	-	OMIM:219000
80144	FRAS1	HP:0001362	Calvarial skull defect	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0001362	Calvarial skull defect	-	OMIM:219000
80144	FRAS1	HP:0000028	Cryptorchidism	-	OMIM:219000
80144	FRAS1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:219000
80144	FRAS1	HP:0000183	Tongue muscle weakness	-	OMIM:219000
80144	FRAS1	HP:0000175	Cleft palate	1/2	OMIM:219000
80144	FRAS1	HP:0000142	Abnormal vagina morphology	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0000148	Vaginal atresia	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0000148	Vaginal atresia	-	OMIM:219000
80144	FRAS1	HP:0007633	Bilateral microphthalmos	-	OMIM:219000
80144	FRAS1	HP:0002777	Tracheal stenosis	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0002025	Anal stenosis	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0002023	Anal atresia	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0002006	Tessier cleft	-	OMIM:219000
80144	FRAS1	HP:0005950	Laryngeal web	-	OMIM:219000
80144	FRAS1	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0002089	Pulmonary hypoplasia	-	OMIM:219000
80144	FRAS1	HP:0002084	Encephalocele	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0002084	Encephalocele	-	OMIM:219000
80144	FRAS1	HP:0010458	Female pseudohermaphroditism	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0009601	Aplasia/Hypoplasia of the thumb	-	OMIM:219000
80144	FRAS1	HP:0010554	Cutaneous finger syndactyly	-	OMIM:219000
80144	FRAS1	HP:0002244	Abnormal small intestine morphology	-	OMIM:219000
80144	FRAS1	HP:0002223	Absent eyebrow	-	OMIM:219000
80144	FRAS1	HP:0010720	Abnormal hair pattern	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0009826	Limb undergrowth	HP:0040284	ORPHA:2052
80144	FRAS1	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	-	OMIM:219000
80144	FRAS1	HP:0000636	Upper eyelid coloboma	-	OMIM:219000
80144	FRAS1	HP:0000618	Blindness	HP:0040281	ORPHA:2052
80144	FRAS1	HP:0000618	Blindness	-	OMIM:219000
80144	FRAS1	HP:0000678	Dental crowding	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0000678	Dental crowding	-	OMIM:219000
80144	FRAS1	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0000689	Dental malocclusion	-	OMIM:219000
80144	FRAS1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0004397	Ectopic anus	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0004378	Abnormality of the anus	-	OMIM:219000
80144	FRAS1	HP:0000772	Abnormal rib morphology	HP:0040284	ORPHA:2052
80144	FRAS1	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0012725	Cutaneous syndactyly	HP:0040281	ORPHA:2052
80144	FRAS1	HP:0000777	Abnormal thymus morphology	-	OMIM:219000
80144	FRAS1	HP:0003191	Cleft ala nasi	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0003191	Cleft ala nasi	-	OMIM:219000
80144	FRAS1	HP:0003183	Wide pubic symphysis	HP:0040284	ORPHA:2052
80144	FRAS1	HP:0003183	Wide pubic symphysis	-	OMIM:219000
80144	FRAS1	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0000813	Bicornuate uterus	1/2	OMIM:219000
80144	FRAS1	HP:0010297	Bifid tongue	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0005105	Abnormal nasal morphology	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0000238	Hydrocephalus	-	OMIM:219000
80144	FRAS1	HP:0000252	Microcephaly	-	OMIM:219000
80144	FRAS1	HP:0000252	Microcephaly	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0001551	Abnormal umbilicus morphology	-	OMIM:219000
80144	FRAS1	HP:0000218	High palate	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0001522	Death in infancy	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0001539	Omphalocele	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0000204	Cleft upper lip	1/2	OMIM:219000
80144	FRAS1	HP:0000378	Cupped ear	-	OMIM:219000
80144	FRAS1	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0001607	Subglottic stenosis	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0001607	Subglottic stenosis	-	OMIM:219000
80144	FRAS1	HP:0001602	Laryngeal stenosis	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0001602	Laryngeal stenosis	2/2	OMIM:219000
80144	FRAS1	HP:0000356	Abnormality of the outer ear	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0000370	Abnormality of the middle ear	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0000369	Low-set ears	-	OMIM:219000
80144	FRAS1	HP:0000316	Hypertelorism	-	OMIM:219000
80144	FRAS1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0000324	Facial asymmetry	1/2	OMIM:219000
80144	FRAS1	HP:0001627	Abnormal heart morphology	-	OMIM:219000
80144	FRAS1	HP:0007957	Corneal opacity	-	OMIM:219000
80144	FRAS1	HP:0006610	Wide intermamillary distance	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0006610	Wide intermamillary distance	-	OMIM:219000
80144	FRAS1	HP:0007925	Lacrimal duct aplasia	HP:0040281	ORPHA:2052
80144	FRAS1	HP:0007925	Lacrimal duct aplasia	-	OMIM:219000
80144	FRAS1	HP:0005352	Severe T-cell immunodeficiency	-	OMIM:219000
80144	FRAS1	HP:0007993	Malformed lacrimal duct	HP:0040281	ORPHA:2052
80144	FRAS1	HP:0007993	Malformed lacrimal duct	-	OMIM:219000
80144	FRAS1	HP:0005325	Extension of hair growth on temples to lateral eyebrow	-	OMIM:219000
80144	FRAS1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0000405	Conductive hearing impairment	1/2	OMIM:219000
80144	FRAS1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0005280	Depressed nasal bridge	-	OMIM:219000
80144	FRAS1	HP:0001792	Small nail	1/2	OMIM:219000
80144	FRAS1	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0000452	Choanal stenosis	-	OMIM:219000
80144	FRAS1	HP:0000445	Wide nose	-	OMIM:219000
80144	FRAS1	HP:0000413	Atresia of the external auditory canal	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0000413	Atresia of the external auditory canal	-	OMIM:219000
80144	FRAS1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0000431	Wide nasal bridge	-	OMIM:219000
80144	FRAS1	HP:0000430	Underdeveloped nasal alae	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0000430	Underdeveloped nasal alae	-	OMIM:219000
80144	FRAS1	HP:0006714	Aplasia/Hypoplasia of the sternum	-	OMIM:219000
80144	FRAS1	HP:0004112	Midline nasal groove	HP:0040283	ORPHA:2052
80144	FRAS1	HP:0004112	Midline nasal groove	-	OMIM:219000
80144	FRAS1	HP:0000528	Anophthalmia	HP:0040282	ORPHA:2052
80144	FRAS1	HP:0000528	Anophthalmia	1/2	OMIM:219000
80144	FRAS1	HP:0000561	Absent eyelashes	-	OMIM:219000
80144	FRAS1	HP:0000568	Microphthalmia	HP:0040282	ORPHA:2052
80150	ASRGL1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
80150	ASRGL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
80150	ASRGL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
80150	ASRGL1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
80150	ASRGL1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
80150	ASRGL1	HP:0003621	Juvenile onset	8/19	OMIM:180100
80150	ASRGL1	HP:0000662	Nyctalopia	26/28	OMIM:180100
80150	ASRGL1	HP:0011463	Childhood onset	3/19	OMIM:180100
80150	ASRGL1	HP:0011462	Young adult onset	8/19	OMIM:180100
80150	ASRGL1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
80150	ASRGL1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
80150	ASRGL1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
80150	ASRGL1	HP:0000575	Scotoma	5/18	OMIM:180100
80150	ASRGL1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
80150	ASRGL1	HP:0000545	Myopia	-	OMIM:180100
80152	CENPT	HP:0001263	Global developmental delay	-	OMIM:618702
80152	CENPT	HP:0000054	Micropenis	1/1	OMIM:618702
80152	CENPT	HP:0000007	Autosomal recessive inheritance	-	OMIM:618702
80152	CENPT	HP:0002650	Scoliosis	1/2	OMIM:618702
80152	CENPT	HP:0000160	Narrow mouth	1/2	OMIM:618702
80152	CENPT	HP:0002020	Gastroesophageal reflux	1/2	OMIM:618702
80152	CENPT	HP:0011968	Feeding difficulties	1/2	OMIM:618702
80152	CENPT	HP:0003510	Severe short stature	2/2	OMIM:618702
80152	CENPT	HP:0004325	Decreased body weight	2/2	OMIM:618702
80152	CENPT	HP:0000823	Delayed puberty	-	OMIM:618702
80152	CENPT	HP:0003241	External genital hypoplasia	-	OMIM:618702
80152	CENPT	HP:0005832	Dysharmonic delayed bone age	2/2	OMIM:618702
80152	CENPT	HP:0000275	Narrow face	1/2	OMIM:618702
80152	CENPT	HP:0000252	Microcephaly	2/2	OMIM:618702
80152	CENPT	HP:0025515	Delayed thelarche	1/1	OMIM:618702
80152	CENPT	HP:0002857	Genu valgum	1/2	OMIM:618702
80152	CENPT	HP:0001508	Failure to thrive	1/2	OMIM:618702
80152	CENPT	HP:0000494	Downslanted palpebral fissures	2/2	OMIM:618702
80152	CENPT	HP:0000448	Prominent nose	1/2	OMIM:618702
80152	CENPT	HP:0000444	Convex nasal ridge	1/2	OMIM:618702
80152	CENPT	HP:0001741	Phimosis	1/1	OMIM:618702
80152	CENPT	HP:0001804	Hypoplastic fingernail	1/2	OMIM:618702
80152	CENPT	HP:0000540	Hypermetropia	2/2	OMIM:618702
80153	EDC3	HP:0001100	Heterochromia iridis	1/2	OMIM:616460
80153	EDC3	HP:0001256	Intellectual disability, mild	2/2	OMIM:616460
80153	EDC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:616460
80153	EDC3	HP:0011463	Childhood onset	2/2	OMIM:616460
80153	EDC3	HP:0000252	Microcephaly	2/2	OMIM:616460
80153	EDC3	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:616460
80155	NAA15	HP:0001270	Motor delay	31/32	OMIM:617787
80155	NAA15	HP:0001250	Seizure	6/26	OMIM:617787
80155	NAA15	HP:0001249	Intellectual disability	23/23	OMIM:617787
80155	NAA15	HP:0001263	Global developmental delay	-	OMIM:617787
80155	NAA15	HP:0000006	Autosomal dominant inheritance	-	OMIM:617787
80155	NAA15	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
80155	NAA15	HP:0007018	Attention deficit hyperactivity disorder	1/28	OMIM:617787
80155	NAA15	HP:0011968	Feeding difficulties	8/14	OMIM:617787
80155	NAA15	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
80155	NAA15	HP:0000733	Motor stereotypy	1/32	OMIM:617787
80155	NAA15	HP:0000750	Delayed speech and language development	2/11	OMIM:617787
80155	NAA15	HP:0000729	Autistic behavior	24/27	OMIM:617787
80155	NAA15	HP:0004467	Preauricular pit	-	OMIM:187500
80155	NAA15	HP:0000337	Broad forehead	-	OMIM:187500
80155	NAA15	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
80155	NAA15	HP:0000520	Proptosis	-	OMIM:187500
80169	CTC1	HP:0007256	Abnormal pyramidal sign	-	OMIM:612199
80169	CTC1	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:1775
80169	CTC1	HP:0002415	Leukodystrophy	-	OMIM:612199
80169	CTC1	HP:0001268	Mental deterioration	-	OMIM:612199
80169	CTC1	HP:0002584	Intestinal bleeding	-	OMIM:612199
80169	CTC1	HP:0001250	Seizure	-	OMIM:612199
80169	CTC1	HP:0001251	Ataxia	-	OMIM:612199
80169	CTC1	HP:0001260	Dysarthria	-	OMIM:612199
80169	CTC1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:1775
80169	CTC1	HP:0001257	Spasticity	-	OMIM:612199
80169	CTC1	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1775
80169	CTC1	HP:0002575	Tracheoesophageal fistula	HP:0040282	ORPHA:1775
80169	CTC1	HP:0100864	Short femoral neck	-	OMIM:612199
80169	CTC1	HP:0008661	Urethral stenosis	HP:0040282	ORPHA:1775
80169	CTC1	HP:0002514	Cerebral calcification	12/12	OMIM:612199
80169	CTC1	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:1775
80169	CTC1	HP:0001399	Hepatic failure	HP:0040283	ORPHA:1775
80169	CTC1	HP:0001394	Cirrhosis	HP:0040283	ORPHA:1775
80169	CTC1	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:1775
80169	CTC1	HP:0008897	Postnatal growth retardation	-	OMIM:612199
80169	CTC1	HP:0002664	Neoplasm	HP:0040282	ORPHA:1775
80169	CTC1	HP:0001332	Dystonia	-	OMIM:612199
80169	CTC1	HP:0002659	Increased susceptibility to fractures	-	OMIM:612199
80169	CTC1	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040282	ORPHA:1775
80169	CTC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612199
80169	CTC1	HP:0002665	Lymphoma	HP:0040283	ORPHA:1775
80169	CTC1	HP:0001337	Tremor	-	OMIM:612199
80169	CTC1	HP:0002650	Scoliosis	-	OMIM:612199
80169	CTC1	HP:0002650	Scoliosis	HP:0040283	ORPHA:1775
80169	CTC1	HP:0002604	Gastrointestinal telangiectasia	6/13	OMIM:612199
80169	CTC1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:1775
80169	CTC1	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:1775
80169	CTC1	HP:0002756	Pathologic fracture	8/12	OMIM:612199
80169	CTC1	HP:0002745	Oral leukoplakia	HP:0040283	OMIM:612199
80169	CTC1	HP:0002745	Oral leukoplakia	HP:0040281	ORPHA:1775
80169	CTC1	HP:0002024	Malabsorption	HP:0040282	ORPHA:1775
80169	CTC1	HP:0002062	Abnormal pyramidal tract morphology	-	OMIM:612199
80169	CTC1	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:612199
80169	CTC1	HP:0010450	Esophageal stenosis	HP:0040282	ORPHA:1775
80169	CTC1	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:1775
80169	CTC1	HP:0002164	Nail dysplasia	-	OMIM:612199
80169	CTC1	HP:0003593	Infantile onset	-	OMIM:612199
80169	CTC1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:1775
80169	CTC1	HP:0002216	Premature graying of hair	3/12	OMIM:612199
80169	CTC1	HP:0002216	Premature graying of hair	HP:0040283	ORPHA:1775
80169	CTC1	HP:0002213	Fine hair	2/13	OMIM:612199
80169	CTC1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1775
80169	CTC1	HP:0002206	Pulmonary fibrosis	1/13	OMIM:612199
80169	CTC1	HP:0008404	Nail dystrophy	5/13	OMIM:612199
80169	CTC1	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:1775
80169	CTC1	HP:0010648	Dermal translucency	2/13	OMIM:612199
80169	CTC1	HP:0010624	Aplastic/hypoplastic toenail	HP:0040282	ORPHA:1775
80169	CTC1	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:1775
80169	CTC1	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:1775
80169	CTC1	HP:0003676	Progressive	-	OMIM:612199
80169	CTC1	HP:0002352	Leukoencephalopathy	12/12	OMIM:612199
80169	CTC1	HP:0004979	Metaphyseal sclerosis	-	OMIM:612199
80169	CTC1	HP:0200037	Skin vesicle	HP:0040283	ORPHA:1775
80169	CTC1	HP:0100670	Coarse metaphyseal trabecularization	HP:0040282	ORPHA:1775
80169	CTC1	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:1775
80169	CTC1	HP:0200042	Skin ulcer	HP:0040282	ORPHA:1775
80169	CTC1	HP:0002301	Hemiplegia	-	OMIM:612199
80169	CTC1	HP:0005528	Bone marrow hypocellularity	HP:0040283	OMIM:612199
80169	CTC1	HP:0005528	Bone marrow hypocellularity	HP:0040282	ORPHA:1775
80169	CTC1	HP:0000648	Optic atrophy	-	OMIM:612199
80169	CTC1	HP:0000618	Blindness	-	OMIM:612199
80169	CTC1	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:1775
80169	CTC1	HP:0000600	Abnormality of the pharynx	HP:0040282	ORPHA:1775
80169	CTC1	HP:0001903	Anemia	5/13	OMIM:612199
80169	CTC1	HP:0001903	Anemia	HP:0040281	ORPHA:1775
80169	CTC1	HP:0011364	White hair	HP:0040283	ORPHA:1775
80169	CTC1	HP:0000679	Taurodontia	HP:0040282	ORPHA:1775
80169	CTC1	HP:0000670	Carious teeth	HP:0040282	ORPHA:1775
80169	CTC1	HP:0000668	Hypodontia	HP:0040282	ORPHA:1775
80169	CTC1	HP:0004322	Short stature	-	OMIM:612199
80169	CTC1	HP:0004322	Short stature	HP:0040282	ORPHA:1775
80169	CTC1	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:1775
80169	CTC1	HP:0012733	Macule	HP:0040281	ORPHA:1775
80169	CTC1	HP:0000704	Periodontitis	HP:0040282	ORPHA:1775
80169	CTC1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1775
80169	CTC1	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1775
80169	CTC1	HP:0000982	Palmoplantar keratoderma	HP:0040283	ORPHA:1775
80169	CTC1	HP:0000963	Thin skin	-	OMIM:612199
80169	CTC1	HP:0000939	Osteoporosis	-	OMIM:612199
80169	CTC1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:1775
80169	CTC1	HP:0000938	Osteopenia	-	OMIM:612199
80169	CTC1	HP:0008070	Sparse hair	-	OMIM:612199
80169	CTC1	HP:0008070	Sparse hair	HP:0040282	ORPHA:1775
80169	CTC1	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1775
80169	CTC1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:1775
80169	CTC1	HP:0001596	Alopecia	HP:0040283	ORPHA:1775
80169	CTC1	HP:0007763	Retinal telangiectasia	-	OMIM:612199
80169	CTC1	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:1775
80169	CTC1	HP:0002857	Genu valgum	-	OMIM:612199
80169	CTC1	HP:0001511	Intrauterine growth retardation	11/12	OMIM:612199
80169	CTC1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:1775
80169	CTC1	HP:0007898	Exudative retinopathy	-	OMIM:612199
80169	CTC1	HP:0006487	Bowing of the long bones	-	OMIM:612199
80169	CTC1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:1775
80169	CTC1	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:1775
80169	CTC1	HP:0000499	Abnormal eyelash morphology	HP:0040283	ORPHA:1775
80169	CTC1	HP:0000498	Blepharitis	HP:0040283	ORPHA:1775
80169	CTC1	HP:0005374	Cellular immunodeficiency	HP:0040282	ORPHA:1775
80169	CTC1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1775
80169	CTC1	HP:0000518	Cataract	HP:0040283	ORPHA:1775
80169	CTC1	HP:0000534	Abnormal eyebrow morphology	HP:0040283	ORPHA:1775
80169	CTC1	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:1775
80169	CTC1	HP:0001873	Thrombocytopenia	HP:0040283	OMIM:612199
80169	CTC1	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:1775
80173	IFT74	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
80173	IFT74	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
80173	IFT74	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
80173	IFT74	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
80173	IFT74	HP:0002419	Molar tooth sign on MRI	5/5	OMIM:619582
80173	IFT74	HP:0001270	Motor delay	1/1	OMIM:619582
80173	IFT74	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
80173	IFT74	HP:0001250	Seizure	HP:0040283	ORPHA:110
80173	IFT74	HP:0001250	Seizure	HP:0040283	ORPHA:475
80173	IFT74	HP:0001252	Hypotonia	5/5	OMIM:619582
80173	IFT74	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
80173	IFT74	HP:0001251	Ataxia	HP:0040283	ORPHA:110
80173	IFT74	HP:0001251	Ataxia	HP:0040281	ORPHA:475
80173	IFT74	HP:0001249	Intellectual disability	4/4	OMIM:619582
80173	IFT74	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
80173	IFT74	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
80173	IFT74	HP:0001249	Intellectual disability	1/2	OMIM:617119
80173	IFT74	HP:0002591	Polyphagia	1/1	OMIM:617119
80173	IFT74	HP:0001263	Global developmental delay	5/5	OMIM:619582
80173	IFT74	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
80173	IFT74	HP:0001257	Spasticity	HP:0040283	ORPHA:110
80173	IFT74	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
80173	IFT74	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
80173	IFT74	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
80173	IFT74	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
80173	IFT74	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
80173	IFT74	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
80173	IFT74	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
80173	IFT74	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
80173	IFT74	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
80173	IFT74	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
80173	IFT74	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
80173	IFT74	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
80173	IFT74	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
80173	IFT74	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
80173	IFT74	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
80173	IFT74	HP:0000007	Autosomal recessive inheritance	-	OMIM:619582
80173	IFT74	HP:0000007	Autosomal recessive inheritance	-	OMIM:619585
80173	IFT74	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
80173	IFT74	HP:0000007	Autosomal recessive inheritance	-	OMIM:617119
80173	IFT74	HP:0001337	Tremor	HP:0040283	ORPHA:475
80173	IFT74	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
80173	IFT74	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
80173	IFT74	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
80173	IFT74	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
80173	IFT74	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
80173	IFT74	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
80173	IFT74	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
80173	IFT74	HP:0000135	Hypogonadism	1/1	OMIM:617119
80173	IFT74	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
80173	IFT74	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
80173	IFT74	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
80173	IFT74	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
80173	IFT74	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
80173	IFT74	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
80173	IFT74	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
80173	IFT74	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
80173	IFT74	HP:0032559	Short sperm flagella	2/2	OMIM:619585
80173	IFT74	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
80173	IFT74	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
80173	IFT74	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
80173	IFT74	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
80173	IFT74	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
80173	IFT74	HP:0002099	Asthma	HP:0040283	ORPHA:110
80173	IFT74	HP:0010442	Polydactyly	1/1	OMIM:617119
80173	IFT74	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
80173	IFT74	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
80173	IFT74	HP:0002104	Apnea	HP:0040281	ORPHA:475
80173	IFT74	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
80173	IFT74	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
80173	IFT74	HP:0003577	Congenital onset	1/1	OMIM:619582
80173	IFT74	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
80173	IFT74	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
80173	IFT74	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
80173	IFT74	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
80173	IFT74	HP:0033393	Irregularly shaped sperm tail	2/2	OMIM:619585
80173	IFT74	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
80173	IFT74	HP:0003621	Juvenile onset	8/19	OMIM:180100
80173	IFT74	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
80173	IFT74	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
80173	IFT74	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
80173	IFT74	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
80173	IFT74	HP:0000618	Blindness	HP:0040282	ORPHA:110
80173	IFT74	HP:0000613	Photophobia	HP:0040282	ORPHA:110
80173	IFT74	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
80173	IFT74	HP:0000609	Optic nerve hypoplasia	2/4	OMIM:619582
80173	IFT74	HP:0034011	Reduced progressive sperm motility	1/2	OMIM:619585
80173	IFT74	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
80173	IFT74	HP:0000691	Microdontia	HP:0040283	ORPHA:110
80173	IFT74	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
80173	IFT74	HP:0000662	Nyctalopia	26/28	OMIM:180100
80173	IFT74	HP:0000657	Oculomotor apraxia	3/4	OMIM:619582
80173	IFT74	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
80173	IFT74	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
80173	IFT74	HP:0004322	Short stature	HP:0040282	ORPHA:110
80173	IFT74	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
80173	IFT74	HP:0000739	Anxiety	HP:0040283	ORPHA:110
80173	IFT74	HP:0000736	Short attention span	HP:0040282	ORPHA:110
80173	IFT74	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
80173	IFT74	HP:0000750	Delayed speech and language development	1/1	OMIM:617119
80173	IFT74	HP:0000716	Depression	HP:0040282	ORPHA:110
80173	IFT74	HP:0000717	Autism	HP:0040282	ORPHA:110
80173	IFT74	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
80173	IFT74	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
80173	IFT74	HP:0011463	Childhood onset	3/19	OMIM:180100
80173	IFT74	HP:0011462	Young adult onset	8/19	OMIM:180100
80173	IFT74	HP:0011462	Young adult onset	2/2	OMIM:619585
80173	IFT74	HP:0000798	Oligozoospermia	1/2	OMIM:619585
80173	IFT74	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
80173	IFT74	HP:0000789	Infertility	HP:0040283	ORPHA:110
80173	IFT74	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
80173	IFT74	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
80173	IFT74	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
80173	IFT74	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
80173	IFT74	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
80173	IFT74	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
80173	IFT74	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
80173	IFT74	HP:0000822	Hypertension	HP:0040282	ORPHA:110
80173	IFT74	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
80173	IFT74	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
80173	IFT74	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
80173	IFT74	HP:0003251	Male infertility	2/2	OMIM:619585
80173	IFT74	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
80173	IFT74	HP:0100259	Postaxial polydactyly	5/5	OMIM:619582
80173	IFT74	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
80173	IFT74	HP:0000256	Macrocephaly	1/1	OMIM:617119
80173	IFT74	HP:0000276	Long face	HP:0040282	ORPHA:475
80173	IFT74	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
80173	IFT74	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
80173	IFT74	HP:0000252	Microcephaly	1/1	OMIM:617119
80173	IFT74	HP:0012208	Immotile sperm	1/2	OMIM:619585
80173	IFT74	HP:0000218	High palate	HP:0040282	ORPHA:110
80173	IFT74	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
80173	IFT74	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
80173	IFT74	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
80173	IFT74	HP:0001520	Large for gestational age	1/1	OMIM:617119
80173	IFT74	HP:0001513	Obesity	HP:0040281	ORPHA:110
80173	IFT74	HP:0001513	Obesity	1/1	OMIM:617119
80173	IFT74	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
80173	IFT74	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
80173	IFT74	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
80173	IFT74	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
80173	IFT74	HP:0000388	Otitis media	HP:0040283	ORPHA:110
80173	IFT74	HP:0007874	Almond-shaped palpebral fissure	1/1	OMIM:619582
80173	IFT74	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
80173	IFT74	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
80173	IFT74	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
80173	IFT74	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
80173	IFT74	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
80173	IFT74	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
80173	IFT74	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
80173	IFT74	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
80173	IFT74	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
80173	IFT74	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
80173	IFT74	HP:0007988	Macular hypopigmentation	1/1	OMIM:617119
80173	IFT74	HP:0000400	Macrotia	HP:0040283	ORPHA:110
80173	IFT74	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
80173	IFT74	HP:0005280	Depressed nasal bridge	1/1	OMIM:619582
80173	IFT74	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
80173	IFT74	HP:0000486	Strabismus	HP:0040283	ORPHA:110
80173	IFT74	HP:0000486	Strabismus	HP:0040283	ORPHA:475
80173	IFT74	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
80173	IFT74	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
80173	IFT74	HP:0000470	Short neck	HP:0040283	ORPHA:110
80173	IFT74	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
80173	IFT74	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
80173	IFT74	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
80173	IFT74	HP:0000518	Cataract	HP:0040283	ORPHA:110
80173	IFT74	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
80173	IFT74	HP:0000510	Rod-cone dystrophy	1/1	OMIM:617119
80173	IFT74	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
80173	IFT74	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
80173	IFT74	HP:0000508	Ptosis	HP:0040283	ORPHA:475
80173	IFT74	HP:0000505	Visual impairment	1/1	OMIM:617119
80173	IFT74	HP:0001830	Postaxial foot polydactyly	1/1	OMIM:617119
80173	IFT74	HP:0000575	Scotoma	5/18	OMIM:180100
80173	IFT74	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
80173	IFT74	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
80173	IFT74	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
80173	IFT74	HP:0000543	Optic disc pallor	1/1	OMIM:180100
80173	IFT74	HP:0000545	Myopia	-	OMIM:180100
80184	CEP290	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:564
80184	CEP290	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
80184	CEP290	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:564
80184	CEP290	HP:0001162	Postaxial hand polydactyly	-	OMIM:611134
80184	CEP290	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2318
80184	CEP290	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
80184	CEP290	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
80184	CEP290	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
80184	CEP290	HP:0003774	Stage 5 chronic kidney disease	11/12	OMIM:610188
80184	CEP290	HP:0003774	Stage 5 chronic kidney disease	2/2	OMIM:610189
80184	CEP290	HP:0003774	Stage 5 chronic kidney disease	HP:0040281	ORPHA:3156
80184	CEP290	HP:0002435	Meningocele	-	OMIM:611134
80184	CEP290	HP:0002419	Molar tooth sign on MRI	9/9	OMIM:610188
80184	CEP290	HP:0002419	Molar tooth sign on MRI	HP:0040283	OMIM:611134
80184	CEP290	HP:0002419	Molar tooth sign on MRI	HP:0040281	ORPHA:2318
80184	CEP290	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
80184	CEP290	HP:0002404	Thickened superior cerebellar peduncle	-	OMIM:610188
80184	CEP290	HP:0001293	Cranial nerve compression	-	OMIM:131300
80184	CEP290	HP:0001290	Generalized hypotonia	-	OMIM:610188
80184	CEP290	HP:0001270	Motor delay	HP:0040283	ORPHA:65
80184	CEP290	HP:0001250	Seizure	2/4	OMIM:611755
80184	CEP290	HP:0001250	Seizure	HP:0040282	ORPHA:65
80184	CEP290	HP:0001250	Seizure	HP:0040283	ORPHA:2318
80184	CEP290	HP:0001250	Seizure	HP:0040283	ORPHA:110
80184	CEP290	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
80184	CEP290	HP:0001252	Hypotonia	HP:0040281	ORPHA:2318
80184	CEP290	HP:0001252	Hypotonia	9/9	OMIM:610188
80184	CEP290	HP:0001252	Hypotonia	2/7	OMIM:615777
80184	CEP290	HP:0001251	Ataxia	HP:0040283	ORPHA:110
80184	CEP290	HP:0001251	Ataxia	HP:0040283	ORPHA:3156
80184	CEP290	HP:0001251	Ataxia	19/19	OMIM:610188
80184	CEP290	HP:0001251	Ataxia	HP:0040281	ORPHA:2318
80184	CEP290	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
80184	CEP290	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2318
80184	CEP290	HP:0001249	Intellectual disability	1/1	OMIM:615991
80184	CEP290	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
80184	CEP290	HP:0001249	Intellectual disability	15/17	OMIM:610188
80184	CEP290	HP:0001249	Intellectual disability	5/7	OMIM:615777
80184	CEP290	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3156
80184	CEP290	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
80184	CEP290	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2318
80184	CEP290	HP:0001263	Global developmental delay	1/1	OMIM:615991
80184	CEP290	HP:0001263	Global developmental delay	9/9	OMIM:610188
80184	CEP290	HP:0001263	Global developmental delay	-	OMIM:615777
80184	CEP290	HP:0001257	Spasticity	HP:0040283	ORPHA:110
80184	CEP290	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
80184	CEP290	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
80184	CEP290	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
80184	CEP290	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
80184	CEP290	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2318
80184	CEP290	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:564
80184	CEP290	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:2318
80184	CEP290	HP:0002515	Waddling gait	54/102	OMIM:131300
80184	CEP290	HP:0000083	Renal insufficiency	1/1	OMIM:615991
80184	CEP290	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:2318
80184	CEP290	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
80184	CEP290	HP:0000090	Nephronophthisis	-	OMIM:610188
80184	CEP290	HP:0000090	Nephronophthisis	HP:0040282	ORPHA:3156
80184	CEP290	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
80184	CEP290	HP:0000068	Urethral atresia	HP:0040283	ORPHA:564
80184	CEP290	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:564
80184	CEP290	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
80184	CEP290	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
80184	CEP290	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:564
80184	CEP290	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:564
80184	CEP290	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
80184	CEP290	HP:0001382	Joint hypermobility	-	OMIM:615777
80184	CEP290	HP:0002694	Sclerosis of skull base	-	OMIM:131300
80184	CEP290	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
80184	CEP290	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:564
80184	CEP290	HP:0008897	Postnatal growth retardation	-	OMIM:615777
80184	CEP290	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
80184	CEP290	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
80184	CEP290	HP:0001324	Muscle weakness	40/96	OMIM:131300
80184	CEP290	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
80184	CEP290	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
80184	CEP290	HP:0000007	Autosomal recessive inheritance	-	OMIM:611755
80184	CEP290	HP:0000007	Autosomal recessive inheritance	-	OMIM:615991
80184	CEP290	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
80184	CEP290	HP:0000007	Autosomal recessive inheritance	-	OMIM:610188
80184	CEP290	HP:0000007	Autosomal recessive inheritance	-	OMIM:610189
80184	CEP290	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
80184	CEP290	HP:0000007	Autosomal recessive inheritance	-	OMIM:611134
80184	CEP290	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:564
80184	CEP290	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
80184	CEP290	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
80184	CEP290	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:564
80184	CEP290	HP:0001305	Dandy-Walker malformation	-	OMIM:611134
80184	CEP290	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:2318
80184	CEP290	HP:0002650	Scoliosis	HP:0040283	ORPHA:2318
80184	CEP290	HP:0002650	Scoliosis	12/14	OMIM:131300
80184	CEP290	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
80184	CEP290	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:564
80184	CEP290	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:3156
80184	CEP290	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
80184	CEP290	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
80184	CEP290	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
80184	CEP290	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
80184	CEP290	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
80184	CEP290	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
80184	CEP290	HP:0000175	Cleft palate	HP:0040282	ORPHA:564
80184	CEP290	HP:0000175	Cleft palate	HP:0040283	OMIM:611134
80184	CEP290	HP:0000175	Cleft palate	1/9	OMIM:610188
80184	CEP290	HP:0000175	Cleft palate	2/7	OMIM:615777
80184	CEP290	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
80184	CEP290	HP:0001483	Eye poking	HP:0040282	ORPHA:65
80184	CEP290	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
80184	CEP290	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
80184	CEP290	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
80184	CEP290	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
80184	CEP290	HP:0007663	Reduced visual acuity	-	OMIM:610188
80184	CEP290	HP:0007663	Reduced visual acuity	2/2	OMIM:610189
80184	CEP290	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
80184	CEP290	HP:0002790	Neonatal breathing dysregulation	-	OMIM:610188
80184	CEP290	HP:0002789	Tachypnea	HP:0040281	ORPHA:2318
80184	CEP290	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
80184	CEP290	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
80184	CEP290	HP:0000112	Nephropathy	HP:0040281	ORPHA:2318
80184	CEP290	HP:0000107	Renal cyst	-	OMIM:611134
80184	CEP290	HP:0001408	Bile duct proliferation	-	OMIM:611134
80184	CEP290	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
80184	CEP290	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
80184	CEP290	HP:0002085	Occipital encephalocele	2/10	OMIM:610188
80184	CEP290	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
80184	CEP290	HP:0002084	Encephalocele	-	OMIM:611134
80184	CEP290	HP:0002084	Encephalocele	HP:0040283	ORPHA:2318
80184	CEP290	HP:0002084	Encephalocele	HP:0040281	ORPHA:564
80184	CEP290	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
80184	CEP290	HP:0002099	Asthma	HP:0040283	ORPHA:110
80184	CEP290	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:611134
80184	CEP290	HP:0003388	Easy fatigability	36/76	OMIM:131300
80184	CEP290	HP:0010442	Polydactyly	0/1	OMIM:615991
80184	CEP290	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
80184	CEP290	HP:0010459	True hermaphroditism	HP:0040283	ORPHA:564
80184	CEP290	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
80184	CEP290	HP:0002104	Apnea	HP:0040281	ORPHA:2318
80184	CEP290	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
80184	CEP290	HP:0008209	Premature ovarian insufficiency	HP:0040282	ORPHA:3156
80184	CEP290	HP:0004727	Impaired renal concentrating ability	-	OMIM:610188
80184	CEP290	HP:0010579	Cone-shaped epiphysis	HP:0040283	ORPHA:3156
80184	CEP290	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
80184	CEP290	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:2318
80184	CEP290	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:2318
80184	CEP290	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
80184	CEP290	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
80184	CEP290	HP:0100732	Pancreatic fibrosis	HP:0040283	ORPHA:564
80184	CEP290	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
80184	CEP290	HP:0003510	Severe short stature	7/7	OMIM:615777
80184	CEP290	HP:0002335	Agenesis of cerebellar vermis	-	OMIM:611134
80184	CEP290	HP:0002335	Agenesis of cerebellar vermis	-	OMIM:610188
80184	CEP290	HP:0002323	Anencephaly	HP:0040283	OMIM:611134
80184	CEP290	HP:0002323	Anencephaly	HP:0040283	ORPHA:564
80184	CEP290	HP:0002315	Headache	-	OMIM:131300
80184	CEP290	HP:0004976	Knee dislocation	6/7	OMIM:615777
80184	CEP290	HP:0009803	Short phalanx of finger	-	OMIM:615777
80184	CEP290	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
80184	CEP290	HP:0009763	Limb pain	63/92	OMIM:131300
80184	CEP290	HP:0003621	Juvenile onset	8/19	OMIM:180100
80184	CEP290	HP:0003621	Juvenile onset	-	OMIM:131300
80184	CEP290	HP:0006870	Lobar holoprosencephaly	HP:0040282	ORPHA:564
80184	CEP290	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
80184	CEP290	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
80184	CEP290	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10/10	OMIM:610188
80184	CEP290	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0/2	OMIM:610189
80184	CEP290	HP:0005565	Reduced renal corticomedullary differentiation	1/8	OMIM:610188
80184	CEP290	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
80184	CEP290	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
80184	CEP290	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
80184	CEP290	HP:0012622	Chronic kidney disease	HP:0040281	ORPHA:3156
80184	CEP290	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
80184	CEP290	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
80184	CEP290	HP:0000639	Nystagmus	11/21	OMIM:610188
80184	CEP290	HP:0000639	Nystagmus	HP:0040282	ORPHA:2318
80184	CEP290	HP:0000639	Nystagmus	1/1	OMIM:615991
80184	CEP290	HP:6001056	Out-toeing	-	OMIM:131300
80184	CEP290	HP:0000651	Diplopia	-	OMIM:131300
80184	CEP290	HP:0000648	Optic atrophy	HP:0040282	ORPHA:564
80184	CEP290	HP:0000647	Sclerocornea	HP:0040282	ORPHA:564
80184	CEP290	HP:0000618	Blindness	HP:0040282	ORPHA:2318
80184	CEP290	HP:0000618	Blindness	HP:0040282	ORPHA:110
80184	CEP290	HP:0000613	Photophobia	HP:0040282	ORPHA:65
80184	CEP290	HP:0000613	Photophobia	HP:0040282	ORPHA:110
80184	CEP290	HP:0000612	Iris coloboma	HP:0040282	ORPHA:2318
80184	CEP290	HP:0001956	Truncal obesity	2/7	OMIM:615777
80184	CEP290	HP:0001903	Anemia	HP:0040283	OMIM:131300
80184	CEP290	HP:0010049	Short metacarpal	-	OMIM:615777
80184	CEP290	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
80184	CEP290	HP:0000678	Dental crowding	-	OMIM:615777
80184	CEP290	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
80184	CEP290	HP:0000691	Microdontia	HP:0040283	ORPHA:110
80184	CEP290	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
80184	CEP290	HP:0000662	Nyctalopia	26/28	OMIM:180100
80184	CEP290	HP:0000657	Oculomotor apraxia	9/9	OMIM:610188
80184	CEP290	HP:0000670	Carious teeth	-	OMIM:131300
80184	CEP290	HP:0011304	Broad thumb	2/7	OMIM:615777
80184	CEP290	HP:0000668	Hypodontia	-	OMIM:615777
80184	CEP290	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
80184	CEP290	HP:0000664	Synophrys	-	OMIM:615777
80184	CEP290	HP:0004322	Short stature	HP:0040281	ORPHA:3156
80184	CEP290	HP:0004322	Short stature	HP:0040282	ORPHA:110
80184	CEP290	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2318
80184	CEP290	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:564
80184	CEP290	HP:0000803	Renal cortical cysts	4/8	OMIM:610188
80184	CEP290	HP:0004396	Poor appetite	-	OMIM:131300
80184	CEP290	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
80184	CEP290	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
80184	CEP290	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
80184	CEP290	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
80184	CEP290	HP:0003026	Short long bone	7/7	OMIM:615777
80184	CEP290	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
80184	CEP290	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:3156
80184	CEP290	HP:0000767	Pectus excavatum	2/7	OMIM:615777
80184	CEP290	HP:0000768	Pectus carinatum	1/7	OMIM:615777
80184	CEP290	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
80184	CEP290	HP:0000739	Anxiety	HP:0040283	ORPHA:110
80184	CEP290	HP:0000736	Short attention span	HP:0040282	ORPHA:110
80184	CEP290	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
80184	CEP290	HP:0000750	Delayed speech and language development	-	OMIM:615777
80184	CEP290	HP:0000716	Depression	HP:0040282	ORPHA:110
80184	CEP290	HP:0000718	Aggressive behavior	1/9	OMIM:610188
80184	CEP290	HP:0000717	Autism	HP:0040282	ORPHA:110
80184	CEP290	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
80184	CEP290	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
80184	CEP290	HP:0000729	Autistic behavior	HP:0040282	ORPHA:2318
80184	CEP290	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
80184	CEP290	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2318
80184	CEP290	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
80184	CEP290	HP:0011463	Childhood onset	3/19	OMIM:180100
80184	CEP290	HP:0011463	Childhood onset	2/2	OMIM:610189
80184	CEP290	HP:0011462	Young adult onset	8/19	OMIM:180100
80184	CEP290	HP:0011461	Fetal onset	7/7	OMIM:615777
80184	CEP290	HP:0000774	Narrow chest	2/7	OMIM:615777
80184	CEP290	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
80184	CEP290	HP:0000789	Infertility	HP:0040283	ORPHA:110
80184	CEP290	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
80184	CEP290	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2318
80184	CEP290	HP:0004409	Hyposmia	-	OMIM:611755
80184	CEP290	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
80184	CEP290	HP:0000926	Platyspondyly	1/7	OMIM:615777
80184	CEP290	HP:0003180	Flat acetabular roof	-	OMIM:615777
80184	CEP290	HP:0004482	Relative macrocephaly	-	OMIM:615777
80184	CEP290	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
80184	CEP290	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
80184	CEP290	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
80184	CEP290	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:2318
80184	CEP290	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
80184	CEP290	HP:0000822	Hypertension	HP:0040282	ORPHA:110
80184	CEP290	HP:0000822	Hypertension	HP:0040281	ORPHA:3156
80184	CEP290	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
80184	CEP290	HP:0000823	Delayed puberty	-	OMIM:131300
80184	CEP290	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:564
80184	CEP290	HP:0000894	Short clavicles	-	OMIM:615777
80184	CEP290	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
80184	CEP290	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
80184	CEP290	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
80184	CEP290	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
80184	CEP290	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
80184	CEP290	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040282	ORPHA:564
80184	CEP290	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
80184	CEP290	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:3156
80184	CEP290	HP:0000286	Epicanthus	1/7	OMIM:615777
80184	CEP290	HP:0000280	Coarse facial features	2/7	OMIM:615777
80184	CEP290	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
80184	CEP290	HP:0000293	Full cheeks	HP:0040282	ORPHA:564
80184	CEP290	HP:0000276	Long face	HP:0040282	ORPHA:2318
80184	CEP290	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
80184	CEP290	HP:0002827	Hip dislocation	3/7	OMIM:615777
80184	CEP290	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:564
80184	CEP290	HP:0000238	Hydrocephalus	HP:0040283	OMIM:611134
80184	CEP290	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2318
80184	CEP290	HP:0000252	Microcephaly	HP:0040283	OMIM:611134
80184	CEP290	HP:0000252	Microcephaly	HP:0040281	ORPHA:564
80184	CEP290	HP:0000252	Microcephaly	-	OMIM:615777
80184	CEP290	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:564
80184	CEP290	HP:0000218	High palate	HP:0040282	ORPHA:110
80184	CEP290	HP:0002876	Episodic tachypnea	-	OMIM:610188
80184	CEP290	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:564
80184	CEP290	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
80184	CEP290	HP:0002857	Genu valgum	-	OMIM:131300
80184	CEP290	HP:0002871	Central apnea	-	OMIM:610188
80184	CEP290	HP:0001533	Slender build	-	OMIM:131300
80184	CEP290	HP:0001511	Intrauterine growth retardation	-	OMIM:611134
80184	CEP290	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
80184	CEP290	HP:0001513	Obesity	HP:0040281	ORPHA:110
80184	CEP290	HP:0001513	Obesity	1/1	OMIM:615991
80184	CEP290	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
80184	CEP290	HP:0007807	Optic nerve compression	-	OMIM:131300
80184	CEP290	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
80184	CEP290	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
80184	CEP290	HP:0012368	Flat face	7/7	OMIM:615777
80184	CEP290	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
80184	CEP290	HP:0000388	Otitis media	HP:0040283	ORPHA:110
80184	CEP290	HP:0007875	Congenital blindness	11/19	OMIM:610188
80184	CEP290	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
80184	CEP290	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
80184	CEP290	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:564
80184	CEP290	HP:0006487	Bowing of the long bones	HP:0040283	OMIM:611134
80184	CEP290	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:564
80184	CEP290	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
80184	CEP290	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
80184	CEP290	HP:0000365	Hearing impairment	10/67	OMIM:131300
80184	CEP290	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
80184	CEP290	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
80184	CEP290	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:564
80184	CEP290	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2318
80184	CEP290	HP:0000340	Sloping forehead	HP:0040282	ORPHA:564
80184	CEP290	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
80184	CEP290	HP:0000343	Long philtrum	1/7	OMIM:615777
80184	CEP290	HP:0011001	Increased bone mineral density	-	OMIM:131300
80184	CEP290	HP:0000347	Micrognathia	HP:0040282	ORPHA:564
80184	CEP290	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
80184	CEP290	HP:0000316	Hypertelorism	HP:0040282	ORPHA:564
80184	CEP290	HP:0000311	Round face	2/7	OMIM:615777
80184	CEP290	HP:0001629	Ventricular septal defect	-	OMIM:611134
80184	CEP290	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
80184	CEP290	HP:0002970	Genu varum	-	OMIM:615777
80184	CEP290	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
80184	CEP290	HP:0001631	Atrial septal defect	-	OMIM:611134
80184	CEP290	HP:0000303	Mandibular prognathia	-	OMIM:131300
80184	CEP290	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:564
80184	CEP290	HP:0000400	Macrotia	HP:0040283	ORPHA:110
80184	CEP290	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
80184	CEP290	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
80184	CEP290	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
80184	CEP290	HP:0000486	Strabismus	HP:0040283	ORPHA:110
80184	CEP290	HP:0000486	Strabismus	HP:0040283	ORPHA:2318
80184	CEP290	HP:0000480	Retinal coloboma	2/12	OMIM:610188
80184	CEP290	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
80184	CEP290	HP:0000482	Microcornea	HP:0040282	ORPHA:564
80184	CEP290	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
80184	CEP290	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2318
80184	CEP290	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:564
80184	CEP290	HP:0000470	Short neck	HP:0040283	ORPHA:110
80184	CEP290	HP:0000470	Short neck	1/7	OMIM:615777
80184	CEP290	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
80184	CEP290	HP:0001769	Broad foot	HP:0040283	OMIM:615777
80184	CEP290	HP:0001763	Pes planus	1/7	OMIM:615777
80184	CEP290	HP:0001746	Asplenia	HP:0040283	ORPHA:564
80184	CEP290	HP:0001747	Accessory spleen	HP:0040283	ORPHA:564
80184	CEP290	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
80184	CEP290	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
80184	CEP290	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:2318
80184	CEP290	HP:0006706	Cystic liver disease	HP:0040283	ORPHA:564
80184	CEP290	HP:0000518	Cataract	HP:0040283	ORPHA:110
80184	CEP290	HP:0000518	Cataract	HP:0040282	ORPHA:564
80184	CEP290	HP:0000518	Cataract	HP:0040283	ORPHA:3156
80184	CEP290	HP:0000518	Cataract	HP:0040282	ORPHA:65
80184	CEP290	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
80184	CEP290	HP:0000510	Rod-cone dystrophy	1/1	OMIM:615991
80184	CEP290	HP:0000510	Rod-cone dystrophy	3/9	OMIM:610188
80184	CEP290	HP:0000510	Rod-cone dystrophy	2/2	OMIM:610189
80184	CEP290	HP:0001840	Metatarsus adductus	-	OMIM:615777
80184	CEP290	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
80184	CEP290	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
80184	CEP290	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:3156
80184	CEP290	HP:0000528	Anophthalmia	HP:0040283	ORPHA:564
80184	CEP290	HP:0000520	Proptosis	2/4	OMIM:131300
80184	CEP290	HP:0000520	Proptosis	7/7	OMIM:615777
80184	CEP290	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:2318
80184	CEP290	HP:0000508	Ptosis	1/9	OMIM:610188
80184	CEP290	HP:0000508	Ptosis	HP:0040282	ORPHA:2318
80184	CEP290	HP:0000505	Visual impairment	-	OMIM:611755
80184	CEP290	HP:0000505	Visual impairment	HP:0040281	ORPHA:3156
80184	CEP290	HP:0000505	Visual impairment	2/2	OMIM:610189
80184	CEP290	HP:0000505	Visual impairment	HP:0040282	ORPHA:2318
80184	CEP290	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:564
80184	CEP290	HP:0000575	Scotoma	5/18	OMIM:180100
80184	CEP290	HP:0000592	Blue sclerae	2/7	OMIM:615777
80184	CEP290	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
80184	CEP290	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:2318
80184	CEP290	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
80184	CEP290	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:3156
80184	CEP290	HP:0000568	Microphthalmia	HP:0040283	OMIM:611134
80184	CEP290	HP:0000568	Microphthalmia	HP:0040282	ORPHA:564
80184	CEP290	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:2318
80184	CEP290	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
80184	CEP290	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
80184	CEP290	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:564
80184	CEP290	HP:0001883	Talipes	HP:0040282	ORPHA:564
80184	CEP290	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
80184	CEP290	HP:0012514	Lower limb pain	4/4	OMIM:131300
80184	CEP290	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
80184	CEP290	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
80184	CEP290	HP:0000543	Optic disc pallor	1/1	OMIM:180100
80184	CEP290	HP:0000545	Myopia	-	OMIM:180100
80185	TTI2	HP:0002486	Myotonia	HP:0040283	ORPHA:391307
80185	TTI2	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:391307
80185	TTI2	HP:0010864	Intellectual disability, severe	3/3	OMIM:615541
80185	TTI2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
80185	TTI2	HP:0001293	Cranial nerve compression	-	OMIM:131300
80185	TTI2	HP:0001252	Hypotonia	2/7	OMIM:615777
80185	TTI2	HP:0001249	Intellectual disability	5/7	OMIM:615777
80185	TTI2	HP:0001263	Global developmental delay	-	OMIM:615541
80185	TTI2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:391307
80185	TTI2	HP:0001263	Global developmental delay	-	OMIM:615777
80185	TTI2	HP:0002515	Waddling gait	54/102	OMIM:131300
80185	TTI2	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:391307
80185	TTI2	HP:0001382	Joint hypermobility	-	OMIM:615777
80185	TTI2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
80185	TTI2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
80185	TTI2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
80185	TTI2	HP:0001324	Muscle weakness	40/96	OMIM:131300
80185	TTI2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
80185	TTI2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
80185	TTI2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615541
80185	TTI2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
80185	TTI2	HP:0002650	Scoliosis	HP:0040282	ORPHA:391307
80185	TTI2	HP:0002650	Scoliosis	12/14	OMIM:131300
80185	TTI2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
80185	TTI2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
80185	TTI2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
80185	TTI2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
80185	TTI2	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:391307
80185	TTI2	HP:0000175	Cleft palate	2/7	OMIM:615777
80185	TTI2	HP:0002751	Kyphoscoliosis	3/3	OMIM:615541
80185	TTI2	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:391307
80185	TTI2	HP:0004691	2-3 toe syndactyly	HP:0040283	ORPHA:391307
80185	TTI2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:391307
80185	TTI2	HP:0003388	Easy fatigability	36/76	OMIM:131300
80185	TTI2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
80185	TTI2	HP:0008209	Premature ovarian insufficiency	HP:0040283	ORPHA:391307
80185	TTI2	HP:0003593	Infantile onset	-	OMIM:615541
80185	TTI2	HP:0003510	Severe short stature	7/7	OMIM:615777
80185	TTI2	HP:0002360	Sleep abnormality	1/3	OMIM:615541
80185	TTI2	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:391307
80185	TTI2	HP:0002342	Intellectual disability, moderate	4/4	OMIM:615541
80185	TTI2	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:391307
80185	TTI2	HP:0002315	Headache	-	OMIM:131300
80185	TTI2	HP:0004976	Knee dislocation	6/7	OMIM:615777
80185	TTI2	HP:0009803	Short phalanx of finger	-	OMIM:615777
80185	TTI2	HP:0009763	Limb pain	63/92	OMIM:131300
80185	TTI2	HP:0003621	Juvenile onset	-	OMIM:131300
80185	TTI2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
80185	TTI2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
80185	TTI2	HP:6001056	Out-toeing	-	OMIM:131300
80185	TTI2	HP:0000651	Diplopia	-	OMIM:131300
80185	TTI2	HP:0001956	Truncal obesity	2/7	OMIM:615777
80185	TTI2	HP:0001903	Anemia	HP:0040283	OMIM:131300
80185	TTI2	HP:0010049	Short metacarpal	-	OMIM:615777
80185	TTI2	HP:0000678	Dental crowding	-	OMIM:615777
80185	TTI2	HP:0000689	Dental malocclusion	2/3	OMIM:615541
80185	TTI2	HP:0000670	Carious teeth	-	OMIM:131300
80185	TTI2	HP:0011304	Broad thumb	2/7	OMIM:615777
80185	TTI2	HP:0000668	Hypodontia	-	OMIM:615777
80185	TTI2	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:391307
80185	TTI2	HP:0000664	Synophrys	-	OMIM:615777
80185	TTI2	HP:0000664	Synophrys	-	OMIM:615541
80185	TTI2	HP:0000664	Synophrys	HP:0040283	ORPHA:391307
80185	TTI2	HP:0004322	Short stature	3/3	OMIM:615541
80185	TTI2	HP:0004322	Short stature	HP:0040282	ORPHA:391307
80185	TTI2	HP:0004396	Poor appetite	-	OMIM:131300
80185	TTI2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
80185	TTI2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
80185	TTI2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
80185	TTI2	HP:0003026	Short long bone	7/7	OMIM:615777
80185	TTI2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
80185	TTI2	HP:0031936	Delayed ability to walk	3/3	OMIM:615541
80185	TTI2	HP:0000752	Hyperactivity	3/3	OMIM:615541
80185	TTI2	HP:0000752	Hyperactivity	HP:0040283	ORPHA:391307
80185	TTI2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
80185	TTI2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
80185	TTI2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
80185	TTI2	HP:0000737	Irritability	HP:0040283	ORPHA:391307
80185	TTI2	HP:0000733	Motor stereotypy	3/3	OMIM:615541
80185	TTI2	HP:0000733	Motor stereotypy	HP:0040282	ORPHA:391307
80185	TTI2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:391307
80185	TTI2	HP:0000750	Delayed speech and language development	-	OMIM:615777
80185	TTI2	HP:0000750	Delayed speech and language development	3/3	OMIM:615541
80185	TTI2	HP:0000718	Aggressive behavior	3/3	OMIM:615541
80185	TTI2	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:391307
80185	TTI2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:391307
80185	TTI2	HP:0011461	Fetal onset	7/7	OMIM:615777
80185	TTI2	HP:0000774	Narrow chest	2/7	OMIM:615777
80185	TTI2	HP:0000926	Platyspondyly	1/7	OMIM:615777
80185	TTI2	HP:0003180	Flat acetabular roof	-	OMIM:615777
80185	TTI2	HP:0004482	Relative macrocephaly	-	OMIM:615777
80185	TTI2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
80185	TTI2	HP:0000823	Delayed puberty	-	OMIM:131300
80185	TTI2	HP:0040080	Anteverted ears	-	OMIM:615541
80185	TTI2	HP:0000894	Short clavicles	-	OMIM:615777
80185	TTI2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
80185	TTI2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
80185	TTI2	HP:0000286	Epicanthus	1/7	OMIM:615777
80185	TTI2	HP:0000280	Coarse facial features	2/7	OMIM:615777
80185	TTI2	HP:0002827	Hip dislocation	3/7	OMIM:615777
80185	TTI2	HP:0000252	Microcephaly	3/3	OMIM:615541
80185	TTI2	HP:0000252	Microcephaly	HP:0040281	ORPHA:391307
80185	TTI2	HP:0000252	Microcephaly	-	OMIM:615777
80185	TTI2	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:391307
80185	TTI2	HP:0002857	Genu valgum	-	OMIM:131300
80185	TTI2	HP:0001533	Slender build	-	OMIM:131300
80185	TTI2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
80185	TTI2	HP:0007807	Optic nerve compression	-	OMIM:131300
80185	TTI2	HP:0012368	Flat face	7/7	OMIM:615777
80185	TTI2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
80185	TTI2	HP:0000365	Hearing impairment	10/67	OMIM:131300
80185	TTI2	HP:0000340	Sloping forehead	-	OMIM:615541
80185	TTI2	HP:0000340	Sloping forehead	HP:0040283	ORPHA:391307
80185	TTI2	HP:0000343	Long philtrum	1/7	OMIM:615777
80185	TTI2	HP:0011001	Increased bone mineral density	-	OMIM:131300
80185	TTI2	HP:0000311	Round face	2/7	OMIM:615777
80185	TTI2	HP:0002970	Genu varum	-	OMIM:615777
80185	TTI2	HP:0000303	Mandibular prognathia	-	OMIM:131300
80185	TTI2	HP:0000400	Macrotia	-	OMIM:615541
80185	TTI2	HP:0000400	Macrotia	HP:0040283	ORPHA:391307
80185	TTI2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
80185	TTI2	HP:0000486	Strabismus	HP:0040283	ORPHA:391307
80185	TTI2	HP:0000486	Strabismus	-	OMIM:615541
80185	TTI2	HP:0000490	Deeply set eye	-	OMIM:615541
80185	TTI2	HP:0000490	Deeply set eye	HP:0040283	ORPHA:391307
80185	TTI2	HP:0000470	Short neck	1/7	OMIM:615777
80185	TTI2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
80185	TTI2	HP:0001763	Pes planus	1/7	OMIM:615777
80185	TTI2	HP:0000448	Prominent nose	-	OMIM:615541
80185	TTI2	HP:0000448	Prominent nose	HP:0040283	ORPHA:391307
80185	TTI2	HP:0001840	Metatarsus adductus	-	OMIM:615777
80185	TTI2	HP:0000520	Proptosis	2/4	OMIM:131300
80185	TTI2	HP:0000520	Proptosis	7/7	OMIM:615777
80185	TTI2	HP:0001822	Hallux valgus	1/3	OMIM:615541
80185	TTI2	HP:0000592	Blue sclerae	2/7	OMIM:615777
80185	TTI2	HP:0001888	Decreased total lymphocyte count	HP:0040283	ORPHA:391307
80185	TTI2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
80185	TTI2	HP:0012514	Lower limb pain	4/4	OMIM:131300
80199	FUZ	HP:0002475	Myelomeningocele	-	OMIM:182940
80199	FUZ	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
80199	FUZ	HP:0001293	Cranial nerve compression	-	OMIM:131300
80199	FUZ	HP:0001252	Hypotonia	2/7	OMIM:615777
80199	FUZ	HP:0001249	Intellectual disability	5/7	OMIM:615777
80199	FUZ	HP:0001263	Global developmental delay	-	OMIM:615777
80199	FUZ	HP:0002515	Waddling gait	54/102	OMIM:131300
80199	FUZ	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:3027
80199	FUZ	HP:0000086	Ectopic kidney	HP:0040282	ORPHA:3027
80199	FUZ	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:3027
80199	FUZ	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:3027
80199	FUZ	HP:0000073	Ureteral duplication	HP:0040282	ORPHA:3027
80199	FUZ	HP:0000069	Abnormality of the ureter	HP:0040282	ORPHA:3027
80199	FUZ	HP:0012032	Lipoma	-	OMIM:182940
80199	FUZ	HP:0001387	Joint stiffness	HP:0040282	ORPHA:3027
80199	FUZ	HP:0001382	Joint hypermobility	-	OMIM:615777
80199	FUZ	HP:0000020	Urinary incontinence	-	OMIM:182940
80199	FUZ	HP:0002694	Sclerosis of skull base	-	OMIM:131300
80199	FUZ	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:3027
80199	FUZ	HP:0008897	Postnatal growth retardation	-	OMIM:615777
80199	FUZ	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
80199	FUZ	HP:0001324	Muscle weakness	40/96	OMIM:131300
80199	FUZ	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
80199	FUZ	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
80199	FUZ	HP:0000006	Autosomal dominant inheritance	-	OMIM:182940
80199	FUZ	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
80199	FUZ	HP:0002650	Scoliosis	HP:0040282	ORPHA:3027
80199	FUZ	HP:0002650	Scoliosis	12/14	OMIM:131300
80199	FUZ	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:3027
80199	FUZ	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
80199	FUZ	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:3027
80199	FUZ	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
80199	FUZ	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
80199	FUZ	HP:0002607	Bowel incontinence	HP:0040281	ORPHA:3027
80199	FUZ	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
80199	FUZ	HP:0000175	Cleft palate	2/7	OMIM:615777
80199	FUZ	HP:0000104	Renal agenesis	HP:0040282	ORPHA:3027
80199	FUZ	HP:0002023	Anal atresia	HP:0040282	ORPHA:3027
80199	FUZ	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:3027
80199	FUZ	HP:0003388	Easy fatigability	36/76	OMIM:131300
80199	FUZ	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
80199	FUZ	HP:0002139	Arrhinencephaly	HP:0040283	ORPHA:3027
80199	FUZ	HP:0011867	Abnormal iliac wing morphology	HP:0040281	ORPHA:3027
80199	FUZ	HP:0100710	Impulsivity	HP:0040281	ORPHA:3027
80199	FUZ	HP:0003510	Severe short stature	7/7	OMIM:615777
80199	FUZ	HP:0001012	Multiple lipomas	-	OMIM:182940
80199	FUZ	HP:0002323	Anencephaly	-	OMIM:182940
80199	FUZ	HP:0002315	Headache	-	OMIM:131300
80199	FUZ	HP:0004976	Knee dislocation	6/7	OMIM:615777
80199	FUZ	HP:0008517	Aplasia/Hypoplasia of the sacrum	HP:0040281	ORPHA:3027
80199	FUZ	HP:0009800	Maternal diabetes	HP:0040281	ORPHA:3027
80199	FUZ	HP:0009803	Short phalanx of finger	-	OMIM:615777
80199	FUZ	HP:0008482	Asymmetry of spinal facet joints	-	OMIM:182940
80199	FUZ	HP:0008479	Hypoplastic vertebral bodies	HP:0040281	ORPHA:3027
80199	FUZ	HP:0009763	Limb pain	63/92	OMIM:131300
80199	FUZ	HP:0002308	Chiari malformation	HP:0040283	ORPHA:3027
80199	FUZ	HP:0003621	Juvenile onset	-	OMIM:131300
80199	FUZ	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
80199	FUZ	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
80199	FUZ	HP:6001056	Out-toeing	-	OMIM:131300
80199	FUZ	HP:0000651	Diplopia	-	OMIM:131300
80199	FUZ	HP:0001956	Truncal obesity	2/7	OMIM:615777
80199	FUZ	HP:0001903	Anemia	HP:0040283	OMIM:131300
80199	FUZ	HP:0010049	Short metacarpal	-	OMIM:615777
80199	FUZ	HP:0000678	Dental crowding	-	OMIM:615777
80199	FUZ	HP:0000670	Carious teeth	-	OMIM:131300
80199	FUZ	HP:0011304	Broad thumb	2/7	OMIM:615777
80199	FUZ	HP:0000668	Hypodontia	-	OMIM:615777
80199	FUZ	HP:0000664	Synophrys	-	OMIM:615777
80199	FUZ	HP:0005640	Abnormal vertebral segmentation and fusion	HP:0040281	ORPHA:3027
80199	FUZ	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:3027
80199	FUZ	HP:0004396	Poor appetite	-	OMIM:131300
80199	FUZ	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
80199	FUZ	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
80199	FUZ	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
80199	FUZ	HP:0003026	Short long bone	7/7	OMIM:615777
80199	FUZ	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
80199	FUZ	HP:0000767	Pectus excavatum	2/7	OMIM:615777
80199	FUZ	HP:0000768	Pectus carinatum	1/7	OMIM:615777
80199	FUZ	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
80199	FUZ	HP:0000750	Delayed speech and language development	-	OMIM:615777
80199	FUZ	HP:0011461	Fetal onset	7/7	OMIM:615777
80199	FUZ	HP:0000774	Narrow chest	2/7	OMIM:615777
80199	FUZ	HP:0003199	Decreased muscle mass	HP:0040281	ORPHA:3027
80199	FUZ	HP:0000926	Platyspondyly	1/7	OMIM:615777
80199	FUZ	HP:0000921	Missing ribs	HP:0040283	ORPHA:3027
80199	FUZ	HP:0003180	Flat acetabular roof	-	OMIM:615777
80199	FUZ	HP:0004482	Relative macrocephaly	-	OMIM:615777
80199	FUZ	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
80199	FUZ	HP:0000822	Hypertension	HP:0040283	ORPHA:3027
80199	FUZ	HP:0000823	Delayed puberty	-	OMIM:131300
80199	FUZ	HP:0000894	Short clavicles	-	OMIM:615777
80199	FUZ	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
80199	FUZ	HP:0003298	Spina bifida occulta	-	OMIM:182940
80199	FUZ	HP:0010305	Absence of the sacrum	-	OMIM:182940
80199	FUZ	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
80199	FUZ	HP:0000960	Sacral dimple	-	OMIM:182940
80199	FUZ	HP:0000286	Epicanthus	1/7	OMIM:615777
80199	FUZ	HP:0000280	Coarse facial features	2/7	OMIM:615777
80199	FUZ	HP:0002827	Hip dislocation	3/7	OMIM:615777
80199	FUZ	HP:0000238	Hydrocephalus	-	OMIM:182940
80199	FUZ	HP:0000252	Microcephaly	-	OMIM:615777
80199	FUZ	HP:0002857	Genu valgum	-	OMIM:131300
80199	FUZ	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:3027
80199	FUZ	HP:0001533	Slender build	-	OMIM:131300
80199	FUZ	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
80199	FUZ	HP:0007807	Optic nerve compression	-	OMIM:131300
80199	FUZ	HP:0012368	Flat face	7/7	OMIM:615777
80199	FUZ	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
80199	FUZ	HP:0000365	Hearing impairment	10/67	OMIM:131300
80199	FUZ	HP:0000343	Long philtrum	1/7	OMIM:615777
80199	FUZ	HP:0011001	Increased bone mineral density	-	OMIM:131300
80199	FUZ	HP:0000311	Round face	2/7	OMIM:615777
80199	FUZ	HP:0002970	Genu varum	-	OMIM:615777
80199	FUZ	HP:0000303	Mandibular prognathia	-	OMIM:131300
80199	FUZ	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
80199	FUZ	HP:0000470	Short neck	1/7	OMIM:615777
80199	FUZ	HP:0001769	Broad foot	HP:0040283	OMIM:615777
80199	FUZ	HP:0001763	Pes planus	1/7	OMIM:615777
80199	FUZ	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:3027
80199	FUZ	HP:0001840	Metatarsus adductus	-	OMIM:615777
80199	FUZ	HP:0000520	Proptosis	2/4	OMIM:131300
80199	FUZ	HP:0000520	Proptosis	7/7	OMIM:615777
80199	FUZ	HP:0000592	Blue sclerae	2/7	OMIM:615777
80199	FUZ	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
80199	FUZ	HP:0012514	Lower limb pain	4/4	OMIM:131300
80201	HKDC1	HP:0001133	Constriction of peripheral visual field	1/1	OMIM:619614
80201	HKDC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619614
80201	HKDC1	HP:0003596	Middle age onset	1/2	OMIM:619614
80201	HKDC1	HP:0030528	Paracentral scotoma	1/1	OMIM:619614
80201	HKDC1	HP:0000662	Nyctalopia	2/2	OMIM:619614
80201	HKDC1	HP:0011462	Young adult onset	1/2	OMIM:619614
80201	HKDC1	HP:0000505	Visual impairment	2/2	OMIM:619614
80201	HKDC1	HP:0000580	Pigmentary retinopathy	2/2	OMIM:619614
80204	FBXO11	HP:0001182	Tapered finger	1/20	OMIM:618089
80204	FBXO11	HP:0001166	Arachnodactyly	1/20	OMIM:618089
80204	FBXO11	HP:0009921	Duane anomaly	1/20	OMIM:618089
80204	FBXO11	HP:0008551	Microtia	-	OMIM:618089
80204	FBXO11	HP:0001250	Seizure	6/20	OMIM:618089
80204	FBXO11	HP:0001252	Hypotonia	9/9	OMIM:618089
80204	FBXO11	HP:0001249	Intellectual disability	20/20	OMIM:618089
80204	FBXO11	HP:0001263	Global developmental delay	20/20	OMIM:618089
80204	FBXO11	HP:0002553	Highly arched eyebrow	1/20	OMIM:618089
80204	FBXO11	HP:0000098	Tall stature	2/20	OMIM:618089
80204	FBXO11	HP:0001382	Joint hypermobility	3/20	OMIM:618089
80204	FBXO11	HP:0001357	Plagiocephaly	-	OMIM:618089
80204	FBXO11	HP:0000028	Cryptorchidism	1/20	OMIM:618089
80204	FBXO11	HP:0000006	Autosomal dominant inheritance	-	OMIM:618089
80204	FBXO11	HP:0000179	Thick lower lip vermilion	1/20	OMIM:618089
80204	FBXO11	HP:0000193	Bifid uvula	1/20	OMIM:618089
80204	FBXO11	HP:0000160	Narrow mouth	1/20	OMIM:618089
80204	FBXO11	HP:0000175	Cleft palate	1/20	OMIM:618089
80204	FBXO11	HP:0000154	Wide mouth	1/20	OMIM:618089
80204	FBXO11	HP:0410030	Cleft lip	1/20	OMIM:618089
80204	FBXO11	HP:0002750	Delayed skeletal maturation	1/20	OMIM:618089
80204	FBXO11	HP:0002719	Recurrent infections	6/20	OMIM:618089
80204	FBXO11	HP:0002714	Downturned corners of mouth	-	OMIM:618089
80204	FBXO11	HP:0002020	Gastroesophageal reflux	1/20	OMIM:618089
80204	FBXO11	HP:0002019	Constipation	3/20	OMIM:618089
80204	FBXO11	HP:0002013	Vomiting	1/20	OMIM:618089
80204	FBXO11	HP:0002007	Frontal bossing	1/20	OMIM:618089
80204	FBXO11	HP:0002099	Asthma	1/20	OMIM:618089
80204	FBXO11	HP:0003396	Syringomyelia	1/20	OMIM:618089
80204	FBXO11	HP:0002107	Pneumothorax	1/20	OMIM:618089
80204	FBXO11	HP:0002236	Frontal upsweep of hair	1/20	OMIM:618089
80204	FBXO11	HP:0002205	Recurrent respiratory infections	2/20	OMIM:618089
80204	FBXO11	HP:0020045	Esodeviation	1/20	OMIM:618089
80204	FBXO11	HP:0001065	Striae distensae	1/20	OMIM:618089
80204	FBXO11	HP:0002360	Sleep abnormality	9/20	OMIM:618089
80204	FBXO11	HP:0002376	Developmental regression	2/17	OMIM:618089
80204	FBXO11	HP:0001007	Hirsutism	1/20	OMIM:618089
80204	FBXO11	HP:0010812	Short uvula	1/20	OMIM:618089
80204	FBXO11	HP:0009836	Broad distal phalanx of finger	1/20	OMIM:618089
80204	FBXO11	HP:0010804	Tented upper lip vermilion	1/20	OMIM:618089
80204	FBXO11	HP:0001090	Abnormally large globe	1/20	OMIM:618089
80204	FBXO11	HP:0200055	Small hand	2/20	OMIM:618089
80204	FBXO11	HP:0033454	Tube feeding	1/20	OMIM:618089
80204	FBXO11	HP:0010749	Blepharochalasis	1/20	OMIM:618089
80204	FBXO11	HP:0004942	Aortic aneurysm	1/20	OMIM:618089
80204	FBXO11	HP:0004279	Short palm	1/20	OMIM:618089
80204	FBXO11	HP:0000637	Long palpebral fissure	1/20	OMIM:618089
80204	FBXO11	HP:0000629	Periorbital fullness	1/20	OMIM:618089
80204	FBXO11	HP:0011330	Metopic synostosis	1/20	OMIM:618089
80204	FBXO11	HP:0004322	Short stature	4/20	OMIM:618089
80204	FBXO11	HP:0005617	Bilateral camptodactyly	1/20	OMIM:618089
80204	FBXO11	HP:0031936	Delayed ability to walk	11/20	OMIM:618089
80204	FBXO11	HP:0000752	Hyperactivity	3/10	OMIM:618089
80204	FBXO11	HP:0000736	Short attention span	-	OMIM:618089
80204	FBXO11	HP:0000750	Delayed speech and language development	20/20	OMIM:618089
80204	FBXO11	HP:0000729	Autistic behavior	8/20	OMIM:618089
80204	FBXO11	HP:0000786	Primary amenorrhea	1/20	OMIM:618089
80204	FBXO11	HP:0004442	Sagittal craniosynostosis	1/20	OMIM:618089
80204	FBXO11	HP:0003100	Slender long bone	1/20	OMIM:618089
80204	FBXO11	HP:0003196	Short nose	1/20	OMIM:618089
80204	FBXO11	HP:0000915	Pectus excavatum of inferior sternum	1/20	OMIM:618089
80204	FBXO11	HP:0004467	Preauricular pit	1/20	OMIM:618089
80204	FBXO11	HP:0010296	Ankyloglossia	1/20	OMIM:618089
80204	FBXO11	HP:0045075	Sparse eyebrow	2/20	OMIM:618089
80204	FBXO11	HP:0000975	Hyperhidrosis	1/20	OMIM:618089
80204	FBXO11	HP:0000954	Single transverse palmar crease	1/20	OMIM:618089
80204	FBXO11	HP:0000938	Osteopenia	1/20	OMIM:618089
80204	FBXO11	HP:0045025	Narrow palpebral fissure	2/20	OMIM:618089
80204	FBXO11	HP:0000286	Epicanthus	2/20	OMIM:618089
80204	FBXO11	HP:0000280	Coarse facial features	1/20	OMIM:618089
80204	FBXO11	HP:0000278	Retrognathia	1/20	OMIM:618089
80204	FBXO11	HP:0000293	Full cheeks	2/20	OMIM:618089
80204	FBXO11	HP:0000256	Macrocephaly	2/20	OMIM:618089
80204	FBXO11	HP:0000276	Long face	2/20	OMIM:618089
80204	FBXO11	HP:0030084	Clinodactyly	3/20	OMIM:618089
80204	FBXO11	HP:0000252	Microcephaly	5/20	OMIM:618089
80204	FBXO11	HP:0000248	Brachycephaly	1/20	OMIM:618089
80204	FBXO11	HP:0000219	Thin upper lip vermilion	1/20	OMIM:618089
80204	FBXO11	HP:0000218	High palate	1/20	OMIM:618089
80204	FBXO11	HP:0000232	Everted lower lip vermilion	1/20	OMIM:618089
80204	FBXO11	HP:0031354	Sleep onset insomnia	6/18	OMIM:618089
80204	FBXO11	HP:0001500	Broad finger	1/1	OMIM:618089
80204	FBXO11	HP:0001513	Obesity	5/20	OMIM:618089
80204	FBXO11	HP:0000358	Posteriorly rotated ears	-	OMIM:618089
80204	FBXO11	HP:0011003	High myopia	1/20	OMIM:618089
80204	FBXO11	HP:0000369	Low-set ears	2/20	OMIM:618089
80204	FBXO11	HP:0000343	Long philtrum	2/20	OMIM:618089
80204	FBXO11	HP:0000337	Broad forehead	1/20	OMIM:618089
80204	FBXO11	HP:0000348	High forehead	-	OMIM:618089
80204	FBXO11	HP:0000347	Micrognathia	2/20	OMIM:618089
80204	FBXO11	HP:0000319	Smooth philtrum	1/20	OMIM:618089
80204	FBXO11	HP:0000316	Hypertelorism	3/20	OMIM:618089
80204	FBXO11	HP:0000322	Short philtrum	1/20	OMIM:618089
80204	FBXO11	HP:0000325	Triangular face	1/20	OMIM:618089
80204	FBXO11	HP:0000307	Pointed chin	3/20	OMIM:618089
80204	FBXO11	HP:0002967	Cubitus valgus	1/20	OMIM:618089
80204	FBXO11	HP:0001631	Atrial septal defect	1/20	OMIM:618089
80204	FBXO11	HP:0000303	Mandibular prognathia	1/20	OMIM:618089
80204	FBXO11	HP:0000403	Recurrent otitis media	3/20	OMIM:618089
80204	FBXO11	HP:0000400	Macrotia	2/20	OMIM:618089
80204	FBXO11	HP:0000486	Strabismus	8/8	OMIM:618089
80204	FBXO11	HP:0012471	Thick vermilion border	1/1	OMIM:618089
80204	FBXO11	HP:0000494	Downslanted palpebral fissures	5/20	OMIM:618089
80204	FBXO11	HP:0000490	Deeply set eye	-	OMIM:618089
80204	FBXO11	HP:0000463	Anteverted nares	1/20	OMIM:618089
80204	FBXO11	HP:0000455	Broad nasal tip	1/20	OMIM:618089
80204	FBXO11	HP:0000457	Depressed nasal ridge	1/20	OMIM:618089
80204	FBXO11	HP:0001770	Toe syndactyly	1/20	OMIM:618089
80204	FBXO11	HP:0001773	Short foot	-	OMIM:618089
80204	FBXO11	HP:0001769	Broad foot	2/20	OMIM:618089
80204	FBXO11	HP:0001763	Pes planus	2/20	OMIM:618089
80204	FBXO11	HP:0000448	Prominent nose	1/20	OMIM:618089
80204	FBXO11	HP:0000414	Bulbous nose	1/20	OMIM:618089
80204	FBXO11	HP:0000411	Protruding ear	1/20	OMIM:618089
80204	FBXO11	HP:0000431	Wide nasal bridge	1/20	OMIM:618089
80204	FBXO11	HP:0000426	Prominent nasal bridge	1/20	OMIM:618089
80204	FBXO11	HP:0011271	Prominent tragus	1/20	OMIM:618089
80204	FBXO11	HP:0000527	Long eyelashes	5/20	OMIM:618089
80204	FBXO11	HP:0001852	Sandal gap	3/20	OMIM:618089
80204	FBXO11	HP:0000520	Proptosis	1/20	OMIM:618089
80204	FBXO11	HP:0011229	Broad eyebrow	1/20	OMIM:618089
80204	FBXO11	HP:0000540	Hypermetropia	2/20	OMIM:618089
80204	FBXO11	HP:0001869	Deep plantar creases	1/20	OMIM:618089
80206	FHOD3	HP:0001297	Stroke	5/64	OMIM:619402
80206	FHOD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:619402
80206	FHOD3	HP:0031295	Left atrial enlargement	19/39	OMIM:619402
80206	FHOD3	HP:0003581	Adult onset	-	OMIM:619402
80206	FHOD3	HP:0032092	Left ventricular outflow tract obstruction	9/42	OMIM:619402
80206	FHOD3	HP:4000004	Myocardial late gadolinium enhancement	11/17	OMIM:619402
80206	FHOD3	HP:0012664	Reduced left ventricular ejection fraction	6/46	OMIM:619402
80206	FHOD3	HP:0031992	Apical hypertrophic cardiomyopathy	2/41	OMIM:619402
80206	FHOD3	HP:0005110	Atrial fibrillation	6/55	OMIM:619402
80206	FHOD3	HP:0005157	Concentric hypertrophic cardiomyopathy	4/41	OMIM:619402
80206	FHOD3	HP:0001670	Asymmetric septal hypertrophy	35/41	OMIM:619402
80206	FHOD3	HP:0001645	Sudden cardiac death	11/68	OMIM:619402
80206	FHOD3	HP:0031656	Systolic anterior motion of the mitral valve	5/40	OMIM:619402
80207	OPA3	HP:0001172	Abnormal thumb morphology	HP:0040283	ORPHA:67036
80207	OPA3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
80207	OPA3	HP:0010924	Posterior cortical cataract	HP:0040282	ORPHA:67036
80207	OPA3	HP:0010923	Anterior subcapsular cataract	HP:0040283	ORPHA:67036
80207	OPA3	HP:0002403	Positive Romberg sign	HP:0040283	ORPHA:67036
80207	OPA3	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:67036
80207	OPA3	HP:0001288	Gait disturbance	HP:0040283	ORPHA:67047
80207	OPA3	HP:0001284	Areflexia	HP:0040282	ORPHA:67036
80207	OPA3	HP:0001251	Ataxia	-	OMIM:258501
80207	OPA3	HP:0001251	Ataxia	HP:0040282	ORPHA:67036
80207	OPA3	HP:0001251	Ataxia	HP:0040282	ORPHA:67047
80207	OPA3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:67047
80207	OPA3	HP:0001266	Choreoathetosis	HP:0040281	ORPHA:67047
80207	OPA3	HP:0001260	Dysarthria	-	OMIM:258501
80207	OPA3	HP:0001260	Dysarthria	HP:0040282	ORPHA:67047
80207	OPA3	HP:0001257	Spasticity	-	OMIM:258501
80207	OPA3	HP:0002522	Areflexia of lower limbs	HP:0040282	ORPHA:67036
80207	OPA3	HP:0001377	Limited elbow extension	HP:0040283	ORPHA:67036
80207	OPA3	HP:0001347	Hyperreflexia	-	OMIM:258501
80207	OPA3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
80207	OPA3	HP:0000007	Autosomal recessive inheritance	-	OMIM:258501
80207	OPA3	HP:0001337	Tremor	-	OMIM:165300
80207	OPA3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
80207	OPA3	HP:0000006	Autosomal dominant inheritance	-	OMIM:165300
80207	OPA3	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:67036
80207	OPA3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
80207	OPA3	HP:0007663	Reduced visual acuity	-	OMIM:165300
80207	OPA3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
80207	OPA3	HP:0007663	Reduced visual acuity	-	OMIM:258501
80207	OPA3	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:67036
80207	OPA3	HP:0006248	Limited wrist movement	HP:0040283	ORPHA:67036
80207	OPA3	HP:0003344	3-Methylglutaric aciduria	10/10	OMIM:258501
80207	OPA3	HP:0100543	Cognitive impairment	-	OMIM:258501
80207	OPA3	HP:0003394	Muscle spasm	HP:0040282	ORPHA:67036
80207	OPA3	HP:0002072	Chorea	-	OMIM:258501
80207	OPA3	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:165300
80207	OPA3	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:258501
80207	OPA3	HP:0009468	Deviation of the 2nd finger	HP:0040283	ORPHA:67036
80207	OPA3	HP:0003474	Somatic sensory dysfunction	HP:0040282	ORPHA:67036
80207	OPA3	HP:0003487	Babinski sign	-	OMIM:258501
80207	OPA3	HP:0003438	Absent Achilles reflex	HP:0040283	ORPHA:67036
80207	OPA3	HP:0002174	Postural tremor	HP:0040282	ORPHA:67036
80207	OPA3	HP:0010522	Dyslexia	HP:0040283	ORPHA:67036
80207	OPA3	HP:0003401	Paresthesia	HP:0040282	ORPHA:67036
80207	OPA3	HP:0003535	3-Methylglutaconic aciduria	HP:0040281	ORPHA:67047
80207	OPA3	HP:0003535	3-Methylglutaconic aciduria	10/10	OMIM:258501
80207	OPA3	HP:0007076	Extrapyramidal muscular rigidity	HP:0040283	ORPHA:67036
80207	OPA3	HP:0002322	Resting tremor	HP:0040283	ORPHA:67036
80207	OPA3	HP:0002317	Unsteady gait	HP:0040282	ORPHA:67036
80207	OPA3	HP:0002313	Spastic paraparesis	HP:0040282	ORPHA:67047
80207	OPA3	HP:0003621	Juvenile onset	8/19	OMIM:180100
80207	OPA3	HP:0000639	Nystagmus	HP:0040282	ORPHA:67036
80207	OPA3	HP:0000639	Nystagmus	HP:0040282	ORPHA:67047
80207	OPA3	HP:0000648	Optic atrophy	24/24	OMIM:165300
80207	OPA3	HP:0000648	Optic atrophy	10/10	OMIM:258501
80207	OPA3	HP:0000648	Optic atrophy	HP:0040281	ORPHA:67036
80207	OPA3	HP:0000642	Red-green dyschromatopsia	HP:0040283	ORPHA:67036
80207	OPA3	HP:0000618	Blindness	HP:0040283	ORPHA:67036
80207	OPA3	HP:0000603	Central scotoma	HP:0040282	ORPHA:67036
80207	OPA3	HP:0000662	Nyctalopia	26/28	OMIM:180100
80207	OPA3	HP:0011463	Childhood onset	3/19	OMIM:180100
80207	OPA3	HP:0011462	Young adult onset	8/19	OMIM:180100
80207	OPA3	HP:0007795	Anterior cortical cataract	HP:0040283	ORPHA:67036
80207	OPA3	HP:0007787	Posterior subcapsular cataract	HP:0040283	ORPHA:67036
80207	OPA3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
80207	OPA3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
80207	OPA3	HP:0000365	Hearing impairment	5/14	OMIM:165300
80207	OPA3	HP:0007976	Cerulean cataract	HP:0040283	ORPHA:67036
80207	OPA3	HP:0001761	Pes cavus	HP:0040283	ORPHA:67036
80207	OPA3	HP:0000518	Cataract	37/45	OMIM:165300
80207	OPA3	HP:0000518	Cataract	HP:0040282	ORPHA:67036
80207	OPA3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
80207	OPA3	HP:0000505	Visual impairment	-	OMIM:258501
80207	OPA3	HP:0000505	Visual impairment	HP:0040280	ORPHA:67036
80207	OPA3	HP:0000505	Visual impairment	HP:0040281	ORPHA:67047
80207	OPA3	HP:0000575	Scotoma	5/18	OMIM:180100
80207	OPA3	HP:0000575	Scotoma	9/9	OMIM:165300
80207	OPA3	HP:0012531	Pain	HP:0040282	ORPHA:67036
80207	OPA3	HP:0000552	Tritanomaly	HP:0040283	ORPHA:67036
80207	OPA3	HP:0000543	Optic disc pallor	11/14	OMIM:165300
80207	OPA3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
80207	OPA3	HP:0000545	Myopia	-	OMIM:180100
80208	SPG11	HP:0002483	Bulbar signs	15/23	OMIM:602099
80208	SPG11	HP:0002483	Bulbar signs	HP:0040282	ORPHA:300605
80208	SPG11	HP:0001152	Saccadic smooth pursuit	HP:0040282	ORPHA:2822
80208	SPG11	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:300605
80208	SPG11	HP:0002460	Distal muscle weakness	23/23	OMIM:602099
80208	SPG11	HP:0007256	Abnormal pyramidal sign	23/23	OMIM:602099
80208	SPG11	HP:0002425	Anarthria	HP:0040283	ORPHA:300605
80208	SPG11	HP:0003722	Neck flexor weakness	HP:0040283	ORPHA:300605
80208	SPG11	HP:0002403	Positive Romberg sign	7/29	OMIM:616668
80208	SPG11	HP:0003701	Proximal muscle weakness	HP:0040283	ORPHA:300605
80208	SPG11	HP:0001276	Hypertonia	HP:0040282	ORPHA:300605
80208	SPG11	HP:0001278	Orthostatic hypotension	HP:0040283	ORPHA:2822
80208	SPG11	HP:0001274	Agenesis of corpus callosum	-	OMIM:604360
80208	SPG11	HP:0001268	Mental deterioration	HP:0040281	ORPHA:2822
80208	SPG11	HP:0001268	Mental deterioration	-	OMIM:604360
80208	SPG11	HP:0002599	Head titubation	HP:0040283	ORPHA:300605
80208	SPG11	HP:0001288	Gait disturbance	HP:0040282	ORPHA:2822
80208	SPG11	HP:0001288	Gait disturbance	HP:0040282	ORPHA:300605
80208	SPG11	HP:0001288	Gait disturbance	18/29	OMIM:616668
80208	SPG11	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:2822
80208	SPG11	HP:0001250	Seizure	HP:0040283	ORPHA:2822
80208	SPG11	HP:0001251	Ataxia	-	OMIM:604360
80208	SPG11	HP:0001251	Ataxia	HP:0040282	ORPHA:2822
80208	SPG11	HP:0001251	Ataxia	HP:0040283	ORPHA:300605
80208	SPG11	HP:0001249	Intellectual disability	15/22	OMIM:604360
80208	SPG11	HP:0001249	Intellectual disability	3/29	OMIM:616668
80208	SPG11	HP:0001264	Spastic diplegia	HP:0040282	ORPHA:300605
80208	SPG11	HP:0001260	Dysarthria	HP:0040282	ORPHA:2822
80208	SPG11	HP:0001260	Dysarthria	-	OMIM:602099
80208	SPG11	HP:0001260	Dysarthria	12/22	OMIM:604360
80208	SPG11	HP:0001263	Global developmental delay	HP:0040283	ORPHA:300605
80208	SPG11	HP:0001258	Spastic paraplegia	-	OMIM:604360
80208	SPG11	HP:0001257	Spasticity	-	OMIM:602099
80208	SPG11	HP:0001257	Spasticity	0/29	OMIM:616668
80208	SPG11	HP:0001239	Wrist flexion contracture	3/29	OMIM:616668
80208	SPG11	HP:0007350	Upper limb hyperreflexia	HP:0040282	ORPHA:2822
80208	SPG11	HP:0007350	Upper limb hyperreflexia	7/22	OMIM:604360
80208	SPG11	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:602099
80208	SPG11	HP:0007354	Amyotrophic lateral sclerosis	HP:0040281	ORPHA:300605
80208	SPG11	HP:0007340	Lower limb muscle weakness	HP:0040281	ORPHA:2822
80208	SPG11	HP:0007340	Lower limb muscle weakness	-	OMIM:604360
80208	SPG11	HP:0002540	Inability to walk	HP:0040282	ORPHA:2822
80208	SPG11	HP:0002540	Inability to walk	HP:0040282	ORPHA:300605
80208	SPG11	HP:0002544	Retrocollis	HP:0040283	ORPHA:300605
80208	SPG11	HP:0002518	Abnormal periventricular white matter morphology	-	OMIM:604360
80208	SPG11	HP:0002530	Axial dystonia	HP:0040283	ORPHA:300605
80208	SPG11	HP:0002522	Areflexia of lower limbs	8/29	OMIM:616668
80208	SPG11	HP:0002500	Abnormal cerebral white matter morphology	0/23	OMIM:602099
80208	SPG11	HP:0012048	Oromandibular dystonia	HP:0040283	ORPHA:300605
80208	SPG11	HP:0000020	Urinary incontinence	1/23	OMIM:602099
80208	SPG11	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:300605
80208	SPG11	HP:0000020	Urinary incontinence	-	OMIM:604360
80208	SPG11	HP:0001348	Brisk reflexes	HP:0040282	ORPHA:300605
80208	SPG11	HP:0001347	Hyperreflexia	-	OMIM:602099
80208	SPG11	HP:0001332	Dystonia	HP:0040282	ORPHA:300605
80208	SPG11	HP:0033725	Thin corpus callosum	0/23	OMIM:602099
80208	SPG11	HP:0001328	Specific learning disability	HP:0040281	ORPHA:2822
80208	SPG11	HP:0001328	Specific learning disability	-	OMIM:604360
80208	SPG11	HP:0001324	Muscle weakness	HP:0040281	ORPHA:300605
80208	SPG11	HP:0000012	Urinary urgency	-	OMIM:604360
80208	SPG11	HP:0000007	Autosomal recessive inheritance	-	OMIM:604360
80208	SPG11	HP:0000007	Autosomal recessive inheritance	-	OMIM:602099
80208	SPG11	HP:0000007	Autosomal recessive inheritance	-	OMIM:616668
80208	SPG11	HP:0002650	Scoliosis	HP:0040283	ORPHA:2822
80208	SPG11	HP:0002650	Scoliosis	HP:0040283	ORPHA:300605
80208	SPG11	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:300605
80208	SPG11	HP:0001300	Parkinsonism	HP:0040283	ORPHA:2822
80208	SPG11	HP:0001300	Parkinsonism	HP:0040283	ORPHA:300605
80208	SPG11	HP:0008994	Proximal muscle weakness in lower limbs	4/29	OMIM:616668
80208	SPG11	HP:0008997	Proximal muscle weakness in upper limbs	0/29	OMIM:616668
80208	SPG11	HP:0008981	Calf muscle hypertrophy	4/29	OMIM:616668
80208	SPG11	HP:0008959	Distal upper limb muscle weakness	16/29	OMIM:616668
80208	SPG11	HP:0008956	Proximal lower limb amyotrophy	1/29	OMIM:616668
80208	SPG11	HP:0008944	Distal lower limb amyotrophy	20/29	OMIM:616668
80208	SPG11	HP:0002751	Kyphoscoliosis	17/29	OMIM:616668
80208	SPG11	HP:0002747	Respiratory insufficiency due to muscle weakness	2/23	OMIM:602099
80208	SPG11	HP:0002015	Dysphagia	HP:0040282	ORPHA:2822
80208	SPG11	HP:0002015	Dysphagia	HP:0040283	ORPHA:300605
80208	SPG11	HP:0002015	Dysphagia	2/22	OMIM:604360
80208	SPG11	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:300605
80208	SPG11	HP:0100543	Cognitive impairment	0/23	OMIM:602099
80208	SPG11	HP:0002064	Spastic gait	-	OMIM:604360
80208	SPG11	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:300605
80208	SPG11	HP:0002061	Lower limb spasticity	-	OMIM:604360
80208	SPG11	HP:0003393	Thenar muscle atrophy	-	OMIM:604360
80208	SPG11	HP:0002079	Hypoplasia of the corpus callosum	HP:0040281	ORPHA:2822
80208	SPG11	HP:0002079	Hypoplasia of the corpus callosum	14/16	OMIM:604360
80208	SPG11	HP:0002079	Hypoplasia of the corpus callosum	3/29	OMIM:616668
80208	SPG11	HP:0002072	Chorea	HP:0040283	ORPHA:300605
80208	SPG11	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:2822
80208	SPG11	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:604360
80208	SPG11	HP:0003477	Peripheral axonal neuropathy	HP:0040281	ORPHA:2822
80208	SPG11	HP:0003477	Peripheral axonal neuropathy	-	OMIM:616668
80208	SPG11	HP:0003487	Babinski sign	-	OMIM:602099
80208	SPG11	HP:0003487	Babinski sign	21/22	OMIM:604360
80208	SPG11	HP:0003487	Babinski sign	2/29	OMIM:616668
80208	SPG11	HP:0003482	EMG: axonal abnormality	HP:0040282	ORPHA:2822
80208	SPG11	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:2822
80208	SPG11	HP:0002120	Cerebral cortical atrophy	3/16	OMIM:604360
80208	SPG11	HP:0003429	CNS hypomyelination	HP:0040282	ORPHA:300605
80208	SPG11	HP:0003445	EMG: neuropathic changes	HP:0040282	ORPHA:2822
80208	SPG11	HP:0002191	Progressive spasticity	HP:0040281	ORPHA:2822
80208	SPG11	HP:0002169	Clonus	HP:0040283	ORPHA:300605
80208	SPG11	HP:0002166	Impaired vibration sensation in the lower limbs	-	OMIM:604360
80208	SPG11	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:300605
80208	SPG11	HP:0002179	Opisthotonus	HP:0040283	ORPHA:300605
80208	SPG11	HP:0002174	Postural tremor	10/29	OMIM:616668
80208	SPG11	HP:0003596	Middle age onset	2/22	OMIM:604360
80208	SPG11	HP:0007067	Distal peripheral sensory neuropathy	-	OMIM:604360
80208	SPG11	HP:0002385	Paraparesis	HP:0040281	ORPHA:2822
80208	SPG11	HP:0002380	Fasciculations	15/23	OMIM:602099
80208	SPG11	HP:0002395	Lower limb hyperreflexia	21/22	OMIM:604360
80208	SPG11	HP:0002366	Abnormal lower motor neuron morphology	-	OMIM:602099
80208	SPG11	HP:0003693	Distal amyotrophy	23/23	OMIM:602099
80208	SPG11	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:2822
80208	SPG11	HP:0003693	Distal amyotrophy	HP:0040281	ORPHA:300605
80208	SPG11	HP:0003676	Progressive	-	OMIM:604360
80208	SPG11	HP:0001004	Lymphedema	HP:0040283	ORPHA:2822
80208	SPG11	HP:0002354	Memory impairment	HP:0040282	ORPHA:2822
80208	SPG11	HP:0003677	Slowly progressive	-	OMIM:602099
80208	SPG11	HP:0003677	Slowly progressive	-	OMIM:616668
80208	SPG11	HP:0002314	Degeneration of the lateral corticospinal tracts	-	OMIM:604360
80208	SPG11	HP:0025058	Hypothalamic atrophy	HP:0040283	ORPHA:2822
80208	SPG11	HP:0007141	Sensorimotor neuropathy	HP:0040281	ORPHA:2822
80208	SPG11	HP:0003621	Juvenile onset	2/22	OMIM:604360
80208	SPG11	HP:0003621	Juvenile onset	10/23	OMIM:602099
80208	SPG11	HP:0003621	Juvenile onset	-	OMIM:616668
80208	SPG11	HP:0007183	Focal T2 hyperintense basal ganglia lesion	HP:0040283	ORPHA:2822
80208	SPG11	HP:0007178	Motor polyneuropathy	HP:0040281	ORPHA:2822
80208	SPG11	HP:0007178	Motor polyneuropathy	-	OMIM:604360
80208	SPG11	HP:0006827	Atrophy of the spinal cord	HP:0040283	ORPHA:2822
80208	SPG11	HP:0006886	Impaired distal vibration sensation	3/17	OMIM:604360
80208	SPG11	HP:0000640	Gaze-evoked nystagmus	-	OMIM:604360
80208	SPG11	HP:0000639	Nystagmus	HP:0040282	ORPHA:2822
80208	SPG11	HP:0000639	Nystagmus	HP:0040283	ORPHA:300605
80208	SPG11	HP:0000605	Supranuclear gaze palsy	HP:0040283	ORPHA:300605
80208	SPG11	HP:0000608	Macular degeneration	-	OMIM:604360
80208	SPG11	HP:0030455	Abnormality of pattern visual evoked potentials	HP:0040282	ORPHA:2822
80208	SPG11	HP:0009053	Distal lower limb muscle weakness	29/29	OMIM:616668
80208	SPG11	HP:0009055	Generalized limb muscle atrophy	HP:0040283	ORPHA:2822
80208	SPG11	HP:0009027	Foot dorsiflexor weakness	11/29	OMIM:616668
80208	SPG11	HP:0006986	Upper limb spasticity	HP:0040281	ORPHA:300605
80208	SPG11	HP:0004326	Cachexia	HP:0040283	ORPHA:300605
80208	SPG11	HP:0031960	Arm dystonia	HP:0040282	ORPHA:300605
80208	SPG11	HP:0006956	Lateral ventricle dilatation	HP:0040282	ORPHA:2822
80208	SPG11	HP:0006913	Frontal cortical atrophy	HP:0040282	ORPHA:2822
80208	SPG11	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:300605
80208	SPG11	HP:0000763	Sensory neuropathy	-	OMIM:604360
80208	SPG11	HP:0000736	Short attention span	HP:0040282	ORPHA:2822
80208	SPG11	HP:0000712	Emotional lability	HP:0040282	ORPHA:2822
80208	SPG11	HP:0000726	Dementia	HP:0040283	ORPHA:2822
80208	SPG11	HP:0000709	Psychosis	HP:0040283	ORPHA:2822
80208	SPG11	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2822
80208	SPG11	HP:0000708	Atypical behavior	HP:0040283	ORPHA:300605
80208	SPG11	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:300605
80208	SPG11	HP:0011463	Childhood onset	-	OMIM:604360
80208	SPG11	HP:0011463	Childhood onset	-	OMIM:616668
80208	SPG11	HP:0011462	Young adult onset	13/23	OMIM:602099
80208	SPG11	HP:0011462	Young adult onset	18/22	OMIM:604360
80208	SPG11	HP:0011462	Young adult onset	-	OMIM:616668
80208	SPG11	HP:0011449	Knee clonus	-	OMIM:604360
80208	SPG11	HP:0011448	Ankle clonus	-	OMIM:604360
80208	SPG11	HP:0005750	Lower-limb joint contracture	HP:0040282	ORPHA:300605
80208	SPG11	HP:0100360	Upper-limb joint contracture	HP:0040282	ORPHA:300605
80208	SPG11	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040282	ORPHA:2822
80208	SPG11	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:300605
80208	SPG11	HP:0003202	Skeletal muscle atrophy	-	OMIM:604360
80208	SPG11	HP:0045007	Abnormal substantia nigra morphology	HP:0040283	ORPHA:2822
80208	SPG11	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:300605
80208	SPG11	HP:0006466	Ankle flexion contracture	14/29	OMIM:616668
80208	SPG11	HP:0000252	Microcephaly	HP:0040283	ORPHA:300605
80208	SPG11	HP:0025502	Overweight	HP:0040283	ORPHA:2822
80208	SPG11	HP:0002839	Urinary bladder sphincter dysfunction	-	OMIM:604360
80208	SPG11	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:300605
80208	SPG11	HP:0030051	Tip-toe gait	-	OMIM:604360
80208	SPG11	HP:0001513	Obesity	HP:0040283	ORPHA:2822
80208	SPG11	HP:0001513	Obesity	-	OMIM:604360
80208	SPG11	HP:0002936	Distal sensory impairment	-	OMIM:616668
80208	SPG11	HP:0000486	Strabismus	HP:0040283	ORPHA:2822
80208	SPG11	HP:0001761	Pes cavus	HP:0040283	ORPHA:2822
80208	SPG11	HP:0001761	Pes cavus	-	OMIM:604360
80208	SPG11	HP:0001761	Pes cavus	23/29	OMIM:616668
80208	SPG11	HP:0000505	Visual impairment	HP:0040283	ORPHA:2822
80208	SPG11	HP:0000505	Visual impairment	-	OMIM:604360
80208	SPG11	HP:0000546	Retinal degeneration	-	OMIM:604360
80208	SPG11	HP:0000546	Retinal degeneration	HP:0040283	ORPHA:2822
80210	ARMC9	HP:0001162	Postaxial hand polydactyly	1/11	OMIM:617622
80210	ARMC9	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
80210	ARMC9	HP:0002419	Molar tooth sign on MRI	11/11	OMIM:617622
80210	ARMC9	HP:0001272	Cerebellar atrophy	2/11	OMIM:617622
80210	ARMC9	HP:0001274	Agenesis of corpus callosum	0/11	OMIM:617622
80210	ARMC9	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
80210	ARMC9	HP:0001250	Seizure	2/11	OMIM:617622
80210	ARMC9	HP:0001250	Seizure	HP:0040283	ORPHA:475
80210	ARMC9	HP:0001252	Hypotonia	-	OMIM:617622
80210	ARMC9	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
80210	ARMC9	HP:0001251	Ataxia	HP:0040281	ORPHA:475
80210	ARMC9	HP:0001249	Intellectual disability	11/11	OMIM:617622
80210	ARMC9	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
80210	ARMC9	HP:0001263	Global developmental delay	11/11	OMIM:617622
80210	ARMC9	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
80210	ARMC9	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
80210	ARMC9	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
80210	ARMC9	HP:0000054	Micropenis	1/6	OMIM:617622
80210	ARMC9	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
80210	ARMC9	HP:0000007	Autosomal recessive inheritance	-	OMIM:617622
80210	ARMC9	HP:0001337	Tremor	HP:0040283	ORPHA:475
80210	ARMC9	HP:0001305	Dandy-Walker malformation	1/11	OMIM:617622
80210	ARMC9	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
80210	ARMC9	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
80210	ARMC9	HP:0000193	Bifid uvula	1/11	OMIM:617622
80210	ARMC9	HP:0007663	Reduced visual acuity	1/11	OMIM:617622
80210	ARMC9	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
80210	ARMC9	HP:0002789	Tachypnea	3/11	OMIM:617622
80210	ARMC9	HP:0004691	2-3 toe syndactyly	1/11	OMIM:617622
80210	ARMC9	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
80210	ARMC9	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
80210	ARMC9	HP:0010442	Polydactyly	2/10	OMIM:617622
80210	ARMC9	HP:0002119	Ventriculomegaly	3/11	OMIM:617622
80210	ARMC9	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
80210	ARMC9	HP:0002126	Polymicrogyria	0/11	OMIM:617622
80210	ARMC9	HP:0002104	Apnea	HP:0040281	ORPHA:475
80210	ARMC9	HP:0002104	Apnea	3/11	OMIM:617622
80210	ARMC9	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
80210	ARMC9	HP:0003577	Congenital onset	-	OMIM:617622
80210	ARMC9	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
80210	ARMC9	HP:0002282	Gray matter heterotopia	3/11	OMIM:617622
80210	ARMC9	HP:0020185	Superior cerebellar dysplasia	11/11	OMIM:617622
80210	ARMC9	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
80210	ARMC9	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
80210	ARMC9	HP:0000609	Optic nerve hypoplasia	1/11	OMIM:617622
80210	ARMC9	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
80210	ARMC9	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
80210	ARMC9	HP:0000750	Delayed speech and language development	-	OMIM:617622
80210	ARMC9	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
80210	ARMC9	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
80210	ARMC9	HP:0000276	Long face	HP:0040282	ORPHA:475
80210	ARMC9	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
80210	ARMC9	HP:0000219	Thin upper lip vermilion	1/11	OMIM:617622
80210	ARMC9	HP:0000218	High palate	1/11	OMIM:617622
80210	ARMC9	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
80210	ARMC9	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
80210	ARMC9	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
80210	ARMC9	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
80210	ARMC9	HP:0000347	Micrognathia	1/11	OMIM:617622
80210	ARMC9	HP:0000486	Strabismus	HP:0040283	ORPHA:475
80210	ARMC9	HP:0000496	Abnormality of eye movement	9/10	OMIM:617622
80210	ARMC9	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
80210	ARMC9	HP:0000431	Wide nasal bridge	1/11	OMIM:617622
80210	ARMC9	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
80210	ARMC9	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
80210	ARMC9	HP:0000508	Ptosis	7/10	OMIM:617622
80210	ARMC9	HP:0000508	Ptosis	HP:0040283	ORPHA:475
80210	ARMC9	HP:0000589	Coloboma	0/8	OMIM:617622
80210	ARMC9	HP:0000556	Retinal dystrophy	2/9	OMIM:617622
80216	ALPK1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
80216	ALPK1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
80216	ALPK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
80216	ALPK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614979
80216	ALPK1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
80216	ALPK1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
80216	ALPK1	HP:0002076	Migraine	6/14	OMIM:614979
80216	ALPK1	HP:0001025	Urticaria	1/15	OMIM:614979
80216	ALPK1	HP:0003621	Juvenile onset	8/19	OMIM:180100
80216	ALPK1	HP:0003621	Juvenile onset	-	OMIM:614979
80216	ALPK1	HP:0001954	Recurrent fever	2/15	OMIM:614979
80216	ALPK1	HP:0000662	Nyctalopia	26/28	OMIM:180100
80216	ALPK1	HP:0011463	Childhood onset	3/19	OMIM:180100
80216	ALPK1	HP:0011462	Young adult onset	8/19	OMIM:180100
80216	ALPK1	HP:0000970	Anhidrosis	13/13	OMIM:614979
80216	ALPK1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
80216	ALPK1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
80216	ALPK1	HP:0001744	Splenomegaly	12/14	OMIM:614979
80216	ALPK1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
80216	ALPK1	HP:0000575	Scotoma	5/18	OMIM:180100
80216	ALPK1	HP:0000572	Visual loss	-	OMIM:614979
80216	ALPK1	HP:0000548	Cone/cone-rod dystrophy	6/15	OMIM:614979
80216	ALPK1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
80216	ALPK1	HP:0001876	Pancytopenia	12/14	OMIM:614979
80216	ALPK1	HP:0000545	Myopia	-	OMIM:180100
80217	CFAP43	HP:0001288	Gait disturbance	-	OMIM:236690
80217	CFAP43	HP:0001263	Global developmental delay	20/20	OMIM:236690
80217	CFAP43	HP:0000020	Urinary incontinence	-	OMIM:236690
80217	CFAP43	HP:0000007	Autosomal recessive inheritance	-	OMIM:617592
80217	CFAP43	HP:0000006	Autosomal dominant inheritance	-	OMIM:236690
80217	CFAP43	HP:0002607	Bowel incontinence	-	OMIM:236690
80217	CFAP43	HP:0032558	Absent sperm flagella	3/3	OMIM:617592
80217	CFAP43	HP:0032559	Short sperm flagella	3/3	OMIM:617592
80217	CFAP43	HP:0032560	Coiled sperm flagella	3/3	OMIM:617592
80217	CFAP43	HP:0002343	Normal pressure hydrocephalus	-	OMIM:236690
80217	CFAP43	HP:0000726	Dementia	-	OMIM:236690
80217	CFAP43	HP:0011462	Young adult onset	3/3	OMIM:617592
80217	CFAP43	HP:0003251	Male infertility	3/3	OMIM:617592
80217	CFAP43	HP:0012207	Reduced sperm motility	3/3	OMIM:617592
80222	TARS2	HP:0001250	Seizure	1/1	OMIM:615918
80222	TARS2	HP:0001263	Global developmental delay	1/1	OMIM:615918
80222	TARS2	HP:0002509	Limb hypertonia	1/1	OMIM:615918
80222	TARS2	HP:0003811	Neonatal death	2/2	OMIM:615918
80222	TARS2	HP:0001397	Hepatic steatosis	-	OMIM:615918
80222	TARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615918
80222	TARS2	HP:0008936	Axial hypotonia	2/2	OMIM:615918
80222	TARS2	HP:0003348	Hyperalaninemia	1/1	OMIM:615918
80222	TARS2	HP:0011813	Increased cerebral lipofuscin	1/1	OMIM:615918
80222	TARS2	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:615918
80222	TARS2	HP:0002059	Cerebral atrophy	1/1	OMIM:615918
80222	TARS2	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:615918
80222	TARS2	HP:0003593	Infantile onset	1/1	OMIM:615918
80222	TARS2	HP:0003577	Congenital onset	2/2	OMIM:615918
80222	TARS2	HP:0008358	Hyperprolinemia	1/1	OMIM:615918
80222	TARS2	HP:0000817	Reduced eye contact	1/1	OMIM:615918
80224	NUBPL	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
80224	NUBPL	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0002490	Increased CSF lactate	1/1	OMIM:618242
80224	NUBPL	HP:0002465	Poor speech	-	OMIM:618242
80224	NUBPL	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0002415	Leukodystrophy	1/1	OMIM:618242
80224	NUBPL	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0001288	Gait disturbance	-	OMIM:618242
80224	NUBPL	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0001251	Ataxia	1/1	OMIM:618242
80224	NUBPL	HP:0001260	Dysarthria	-	OMIM:618242
80224	NUBPL	HP:0001263	Global developmental delay	1/1	OMIM:618242
80224	NUBPL	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0001257	Spasticity	1/1	OMIM:618242
80224	NUBPL	HP:0001347	Hyperreflexia	-	OMIM:618242
80224	NUBPL	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0000007	Autosomal recessive inheritance	-	OMIM:618242
80224	NUBPL	HP:0001317	Abnormal cerebellum morphology	-	OMIM:618242
80224	NUBPL	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0003487	Babinski sign	-	OMIM:618242
80224	NUBPL	HP:0002121	Generalized non-motor (absence) seizure	1/1	OMIM:618242
80224	NUBPL	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
80224	NUBPL	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:618242
80224	NUBPL	HP:0002194	Delayed gross motor development	1/1	OMIM:618242
80224	NUBPL	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
80224	NUBPL	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0002352	Leukoencephalopathy	-	OMIM:618242
80224	NUBPL	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0000639	Nystagmus	1/1	OMIM:618242
80224	NUBPL	HP:0000618	Blindness	HP:0040283	ORPHA:2609
80224	NUBPL	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0011463	Childhood onset	1/1	OMIM:618242
80224	NUBPL	HP:0003198	Myopathy	1/1	OMIM:618242
80224	NUBPL	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
80224	NUBPL	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0003200	Ragged-red muscle fibers	1/1	OMIM:618242
80224	NUBPL	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
80224	NUBPL	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0001510	Growth delay	-	OMIM:618242
80224	NUBPL	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0000486	Strabismus	1/1	OMIM:618242
80224	NUBPL	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
80224	NUBPL	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
80232	WDR26	HP:0025186	Marcus Gunn jaw winking synkinesis	1/15	OMIM:617616
80232	WDR26	HP:0025186	Marcus Gunn jaw winking synkinesis	HP:0040283	ORPHA:513456
80232	WDR26	HP:0009933	Narrow naris	2/15	OMIM:617616
80232	WDR26	HP:0001250	Seizure	HP:0040281	ORPHA:513456
80232	WDR26	HP:0001250	Seizure	-	OMIM:617616
80232	WDR26	HP:0001252	Hypotonia	HP:0040282	ORPHA:513456
80232	WDR26	HP:0001252	Hypotonia	9/12	OMIM:617616
80232	WDR26	HP:0001249	Intellectual disability	HP:0040281	ORPHA:513456
80232	WDR26	HP:0001249	Intellectual disability	15/15	OMIM:617616
80232	WDR26	HP:0001263	Global developmental delay	15/15	OMIM:617616
80232	WDR26	HP:0008762	Repetitive compulsive behavior	HP:0040283	ORPHA:513456
80232	WDR26	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:513456
80232	WDR26	HP:0025336	Delayed ability to sit	HP:0040282	ORPHA:513456
80232	WDR26	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:513456
80232	WDR26	HP:0012020	Right aortic arch	1/15	OMIM:617616
80232	WDR26	HP:0012020	Right aortic arch	HP:0040283	ORPHA:513456
80232	WDR26	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:513456
80232	WDR26	HP:0033725	Thin corpus callosum	1/15	OMIM:617616
80232	WDR26	HP:0001344	Absent speech	HP:0040283	ORPHA:513456
80232	WDR26	HP:0001344	Absent speech	-	OMIM:617616
80232	WDR26	HP:0000006	Autosomal dominant inheritance	-	OMIM:617616
80232	WDR26	HP:0001302	Pachygyria	HP:0040283	ORPHA:513456
80232	WDR26	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:513456
80232	WDR26	HP:0012172	Stereotypical body rocking	HP:0040283	ORPHA:513456
80232	WDR26	HP:0000179	Thick lower lip vermilion	1/1	OMIM:617616
80232	WDR26	HP:0000175	Cleft palate	HP:0040283	ORPHA:513456
80232	WDR26	HP:0000175	Cleft palate	1/15	OMIM:617616
80232	WDR26	HP:0000168	Abnormality of the gingiva	HP:0040282	ORPHA:513456
80232	WDR26	HP:0000154	Wide mouth	10/15	OMIM:617616
80232	WDR26	HP:0006335	Persistence of primary teeth	4/9	OMIM:617616
80232	WDR26	HP:0002779	Tracheomalacia	HP:0040283	ORPHA:513456
80232	WDR26	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:513456
80232	WDR26	HP:0002020	Gastroesophageal reflux	5/13	OMIM:617616
80232	WDR26	HP:0002019	Constipation	HP:0040283	ORPHA:513456
80232	WDR26	HP:0002019	Constipation	14/22	OMIM:617616
80232	WDR26	HP:0002007	Frontal bossing	0/14	OMIM:617616
80232	WDR26	HP:0011800	Midface retrusion	1/15	OMIM:617616
80232	WDR26	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:513456
80232	WDR26	HP:0002066	Gait ataxia	HP:0040283	ORPHA:513456
80232	WDR26	HP:0002064	Spastic gait	-	OMIM:617616
80232	WDR26	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:513456
80232	WDR26	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:617616
80232	WDR26	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:513456
80232	WDR26	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:513456
80232	WDR26	HP:0002119	Ventriculomegaly	-	OMIM:617616
80232	WDR26	HP:0002136	Broad-based gait	HP:0040283	ORPHA:513456
80232	WDR26	HP:0002136	Broad-based gait	-	OMIM:617616
80232	WDR26	HP:0009623	Proximal placement of thumb	1/10	OMIM:617616
80232	WDR26	HP:0011842	Abnormal skeletal morphology	HP:0040283	ORPHA:513456
80232	WDR26	HP:0003593	Infantile onset	-	OMIM:617616
80232	WDR26	HP:0011968	Feeding difficulties	6/15	OMIM:617616
80232	WDR26	HP:0430028	Hyperplasia of the maxilla	HP:0040281	ORPHA:513456
80232	WDR26	HP:0430028	Hyperplasia of the maxilla	13/15	OMIM:617616
80232	WDR26	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:513456
80232	WDR26	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	9/13	OMIM:617616
80232	WDR26	HP:0001007	Hirsutism	1/8	OMIM:617616
80232	WDR26	HP:0010803	Everted upper lip vermilion	HP:0040281	ORPHA:513456
80232	WDR26	HP:0010800	Absent cupid's bow	11/15	OMIM:617616
80232	WDR26	HP:0010800	Absent cupid's bow	HP:0040282	ORPHA:513456
80232	WDR26	HP:0001090	Abnormally large globe	11/15	OMIM:617616
80232	WDR26	HP:0200055	Small hand	1/9	OMIM:617616
80232	WDR26	HP:0010740	Osteopathia striata	HP:0040283	ORPHA:513456
80232	WDR26	HP:0004209	Clinodactyly of the 5th finger	4/12	OMIM:617616
80232	WDR26	HP:0006808	Cerebral hypomyelination	HP:0040283	ORPHA:513456
80232	WDR26	HP:0006897	Abducens palsy	HP:0040283	ORPHA:513456
80232	WDR26	HP:0000646	Amblyopia	HP:0040283	ORPHA:513456
80232	WDR26	HP:0000646	Amblyopia	-	OMIM:617616
80232	WDR26	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:513456
80232	WDR26	HP:0012683	Pineal cyst	3/15	OMIM:617616
80232	WDR26	HP:0012683	Pineal cyst	HP:0040283	ORPHA:513456
80232	WDR26	HP:0011342	Mild global developmental delay	HP:0040282	ORPHA:513456
80232	WDR26	HP:0000687	Widely spaced teeth	HP:0040281	ORPHA:513456
80232	WDR26	HP:0000687	Widely spaced teeth	13/15	OMIM:617616
80232	WDR26	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:513456
80232	WDR26	HP:0031936	Delayed ability to walk	-	OMIM:617616
80232	WDR26	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:513456
80232	WDR26	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:513456
80232	WDR26	HP:0000729	Autistic behavior	HP:0040283	ORPHA:513456
80232	WDR26	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:513456
80232	WDR26	HP:0005750	Lower-limb joint contracture	HP:0040283	ORPHA:513456
80232	WDR26	HP:0040115	Abnormal Eustachian tube morphology	HP:0040283	ORPHA:513456
80232	WDR26	HP:0003194	Short nasal bridge	5/15	OMIM:617616
80232	WDR26	HP:0040082	Happy demeanor	10/11	OMIM:617616
80232	WDR26	HP:0000280	Coarse facial features	HP:0040282	ORPHA:513456
80232	WDR26	HP:0000280	Coarse facial features	12/15	OMIM:617616
80232	WDR26	HP:0000293	Full cheeks	HP:0040281	ORPHA:513456
80232	WDR26	HP:0000293	Full cheeks	11/13	OMIM:617616
80232	WDR26	HP:0000252	Microcephaly	HP:0040283	ORPHA:513456
80232	WDR26	HP:0000248	Brachycephaly	1/15	OMIM:617616
80232	WDR26	HP:0000219	Thin upper lip vermilion	3/15	OMIM:617616
80232	WDR26	HP:0000212	Gingival overgrowth	2/15	OMIM:617616
80232	WDR26	HP:0000215	Thick upper lip vermilion	13/15	OMIM:617616
80232	WDR26	HP:0001508	Failure to thrive	HP:0040282	ORPHA:513456
80232	WDR26	HP:0001508	Failure to thrive	5/15	OMIM:617616
80232	WDR26	HP:0007800	Increased axial length of the globe	HP:0040282	ORPHA:513456
80232	WDR26	HP:0000341	Narrow forehead	6/15	OMIM:617616
80232	WDR26	HP:0000336	Prominent supraorbital ridges	2/14	OMIM:617616
80232	WDR26	HP:0000347	Micrognathia	HP:0040282	ORPHA:513456
80232	WDR26	HP:0000347	Micrognathia	5/15	OMIM:617616
80232	WDR26	HP:0000316	Hypertelorism	5/15	OMIM:617616
80232	WDR26	HP:0000322	Short philtrum	7/15	OMIM:617616
80232	WDR26	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:513456
80232	WDR26	HP:0001629	Ventricular septal defect	1/15	OMIM:617616
80232	WDR26	HP:0005338	Sparse lateral eyebrow	6/15	OMIM:617616
80232	WDR26	HP:0005338	Sparse lateral eyebrow	HP:0040282	ORPHA:513456
80232	WDR26	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:513456
80232	WDR26	HP:0000403	Recurrent otitis media	4/10	OMIM:617616
80232	WDR26	HP:0005274	Prominent nasal tip	HP:0040282	ORPHA:513456
80232	WDR26	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:513456
80232	WDR26	HP:0005280	Depressed nasal bridge	5/15	OMIM:617616
80232	WDR26	HP:0000486	Strabismus	HP:0040283	ORPHA:513456
80232	WDR26	HP:0000486	Strabismus	8/14	OMIM:617616
80232	WDR26	HP:0012471	Thick vermilion border	9/14	OMIM:617616
80232	WDR26	HP:0000490	Deeply set eye	0/15	OMIM:617616
80232	WDR26	HP:0000463	Anteverted nares	HP:0040282	ORPHA:513456
80232	WDR26	HP:0000463	Anteverted nares	8/15	OMIM:617616
80232	WDR26	HP:0000455	Broad nasal tip	11/15	OMIM:617616
80232	WDR26	HP:0001773	Short foot	2/8	OMIM:617616
80232	WDR26	HP:0001761	Pes cavus	HP:0040283	ORPHA:513456
80232	WDR26	HP:0001761	Pes cavus	2/15	OMIM:617616
80232	WDR26	HP:0001840	Metatarsus adductus	HP:0040283	ORPHA:513456
80232	WDR26	HP:0000520	Proptosis	3/15	OMIM:617616
80232	WDR26	HP:0000582	Upslanted palpebral fissure	4/15	OMIM:617616
80232	WDR26	HP:0000540	Hypermetropia	HP:0040283	ORPHA:513456
80232	WDR26	HP:0000540	Hypermetropia	5/13	OMIM:617616
80232	WDR26	HP:0000545	Myopia	HP:0040283	ORPHA:513456
80232	WDR26	HP:0000545	Myopia	2/13	OMIM:617616
80254	CEP63	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
80254	CEP63	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
80254	CEP63	HP:0001293	Cranial nerve compression	-	OMIM:131300
80254	CEP63	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
80254	CEP63	HP:0001252	Hypotonia	2/7	OMIM:615777
80254	CEP63	HP:0001249	Intellectual disability	3/3	OMIM:614728
80254	CEP63	HP:0001249	Intellectual disability	5/7	OMIM:615777
80254	CEP63	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
80254	CEP63	HP:0001263	Global developmental delay	-	OMIM:615777
80254	CEP63	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
80254	CEP63	HP:0002515	Waddling gait	54/102	OMIM:131300
80254	CEP63	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
80254	CEP63	HP:0001382	Joint hypermobility	-	OMIM:615777
80254	CEP63	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
80254	CEP63	HP:0002694	Sclerosis of skull base	-	OMIM:131300
80254	CEP63	HP:0008897	Postnatal growth retardation	-	OMIM:615777
80254	CEP63	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
80254	CEP63	HP:0001324	Muscle weakness	40/96	OMIM:131300
80254	CEP63	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
80254	CEP63	HP:0000007	Autosomal recessive inheritance	-	OMIM:614728
80254	CEP63	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
80254	CEP63	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
80254	CEP63	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
80254	CEP63	HP:0002650	Scoliosis	12/14	OMIM:131300
80254	CEP63	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
80254	CEP63	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
80254	CEP63	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
80254	CEP63	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
80254	CEP63	HP:0000175	Cleft palate	2/7	OMIM:615777
80254	CEP63	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
80254	CEP63	HP:0003388	Easy fatigability	36/76	OMIM:131300
80254	CEP63	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
80254	CEP63	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
80254	CEP63	HP:0003577	Congenital onset	3/3	OMIM:614728
80254	CEP63	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
80254	CEP63	HP:0003510	Severe short stature	7/7	OMIM:615777
80254	CEP63	HP:0002315	Headache	-	OMIM:131300
80254	CEP63	HP:0004976	Knee dislocation	6/7	OMIM:615777
80254	CEP63	HP:0009803	Short phalanx of finger	-	OMIM:615777
80254	CEP63	HP:0009763	Limb pain	63/92	OMIM:131300
80254	CEP63	HP:0003621	Juvenile onset	-	OMIM:131300
80254	CEP63	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
80254	CEP63	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
80254	CEP63	HP:6001056	Out-toeing	-	OMIM:131300
80254	CEP63	HP:0000651	Diplopia	-	OMIM:131300
80254	CEP63	HP:0001956	Truncal obesity	2/7	OMIM:615777
80254	CEP63	HP:0001903	Anemia	HP:0040283	OMIM:131300
80254	CEP63	HP:0010049	Short metacarpal	-	OMIM:615777
80254	CEP63	HP:0000678	Dental crowding	-	OMIM:615777
80254	CEP63	HP:0000670	Carious teeth	-	OMIM:131300
80254	CEP63	HP:0011304	Broad thumb	2/7	OMIM:615777
80254	CEP63	HP:0000668	Hypodontia	-	OMIM:615777
80254	CEP63	HP:0000664	Synophrys	-	OMIM:615777
80254	CEP63	HP:0004322	Short stature	3/3	OMIM:614728
80254	CEP63	HP:0004322	Short stature	HP:0040281	ORPHA:2512
80254	CEP63	HP:0004396	Poor appetite	-	OMIM:131300
80254	CEP63	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
80254	CEP63	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
80254	CEP63	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
80254	CEP63	HP:0003026	Short long bone	7/7	OMIM:615777
80254	CEP63	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
80254	CEP63	HP:0000767	Pectus excavatum	2/7	OMIM:615777
80254	CEP63	HP:0000768	Pectus carinatum	1/7	OMIM:615777
80254	CEP63	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
80254	CEP63	HP:0000750	Delayed speech and language development	3/3	OMIM:614728
80254	CEP63	HP:0000750	Delayed speech and language development	-	OMIM:615777
80254	CEP63	HP:0011461	Fetal onset	7/7	OMIM:615777
80254	CEP63	HP:0011451	Primary microcephaly	3/3	OMIM:614728
80254	CEP63	HP:0000774	Narrow chest	2/7	OMIM:615777
80254	CEP63	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
80254	CEP63	HP:0000926	Platyspondyly	1/7	OMIM:615777
80254	CEP63	HP:0003180	Flat acetabular roof	-	OMIM:615777
80254	CEP63	HP:0004482	Relative macrocephaly	-	OMIM:615777
80254	CEP63	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
80254	CEP63	HP:0000823	Delayed puberty	-	OMIM:131300
80254	CEP63	HP:0000894	Short clavicles	-	OMIM:615777
80254	CEP63	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
80254	CEP63	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
80254	CEP63	HP:0000286	Epicanthus	1/7	OMIM:615777
80254	CEP63	HP:0000280	Coarse facial features	2/7	OMIM:615777
80254	CEP63	HP:0002827	Hip dislocation	3/7	OMIM:615777
80254	CEP63	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
80254	CEP63	HP:0000252	Microcephaly	-	OMIM:615777
80254	CEP63	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
80254	CEP63	HP:0002857	Genu valgum	-	OMIM:131300
80254	CEP63	HP:0001533	Slender build	-	OMIM:131300
80254	CEP63	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
80254	CEP63	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
80254	CEP63	HP:0007807	Optic nerve compression	-	OMIM:131300
80254	CEP63	HP:0012368	Flat face	7/7	OMIM:615777
80254	CEP63	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
80254	CEP63	HP:0000365	Hearing impairment	10/67	OMIM:131300
80254	CEP63	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
80254	CEP63	HP:0000343	Long philtrum	1/7	OMIM:615777
80254	CEP63	HP:0011001	Increased bone mineral density	-	OMIM:131300
80254	CEP63	HP:0000311	Round face	2/7	OMIM:615777
80254	CEP63	HP:0002970	Genu varum	-	OMIM:615777
80254	CEP63	HP:0000303	Mandibular prognathia	-	OMIM:131300
80254	CEP63	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
80254	CEP63	HP:0000470	Short neck	1/7	OMIM:615777
80254	CEP63	HP:0001769	Broad foot	HP:0040283	OMIM:615777
80254	CEP63	HP:0001763	Pes planus	1/7	OMIM:615777
80254	CEP63	HP:0001840	Metatarsus adductus	-	OMIM:615777
80254	CEP63	HP:0000520	Proptosis	2/4	OMIM:131300
80254	CEP63	HP:0000520	Proptosis	7/7	OMIM:615777
80254	CEP63	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
80254	CEP63	HP:0000592	Blue sclerae	2/7	OMIM:615777
80254	CEP63	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
80254	CEP63	HP:0012514	Lower limb pain	4/4	OMIM:131300
80267	EDEM3	HP:0001252	Hypotonia	6/12	OMIM:619493
80267	EDEM3	HP:0001249	Intellectual disability	-	OMIM:619493
80267	EDEM3	HP:0001263	Global developmental delay	12/12	OMIM:619493
80267	EDEM3	HP:0000034	Hydrocele testis	1/4	OMIM:619493
80267	EDEM3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619493
80267	EDEM3	HP:0000175	Cleft palate	1/12	OMIM:619493
80267	EDEM3	HP:0002020	Gastroesophageal reflux	3/12	OMIM:619493
80267	EDEM3	HP:0002162	Low posterior hairline	1/12	OMIM:619493
80267	EDEM3	HP:0003593	Infantile onset	-	OMIM:619493
80267	EDEM3	HP:0002280	Enlarged cisterna magna	1/12	OMIM:619493
80267	EDEM3	HP:0001052	Nevus flammeus	3/12	OMIM:619493
80267	EDEM3	HP:0009765	Low hanging columella	4/12	OMIM:619493
80267	EDEM3	HP:0000629	Periorbital fullness	1/12	OMIM:619493
80267	EDEM3	HP:0006970	Periventricular leukomalacia	1/12	OMIM:619493
80267	EDEM3	HP:0011470	Nasogastric tube feeding in infancy	2/12	OMIM:619493
80267	EDEM3	HP:0045025	Narrow palpebral fissure	6/12	OMIM:619493
80267	EDEM3	HP:0000286	Epicanthus	6/12	OMIM:619493
80267	EDEM3	HP:0000278	Retrognathia	6/12	OMIM:619493
80267	EDEM3	HP:0000219	Thin upper lip vermilion	9/12	OMIM:619493
80267	EDEM3	HP:0000218	High palate	1/12	OMIM:619493
80267	EDEM3	HP:0000391	Thickened helices	3/12	OMIM:619493
80267	EDEM3	HP:0012347	Abnormal protein N-linked glycosylation	12/12	OMIM:619493
80267	EDEM3	HP:0000369	Low-set ears	3/12	OMIM:619493
80267	EDEM3	HP:0000316	Hypertelorism	2/12	OMIM:619493
80267	EDEM3	HP:0000322	Short philtrum	6/12	OMIM:619493
80267	EDEM3	HP:0000483	Astigmatism	2/12	OMIM:619493
80267	EDEM3	HP:0000486	Strabismus	1/12	OMIM:619493
80267	EDEM3	HP:0012471	Thick vermilion border	1/12	OMIM:619493
80267	EDEM3	HP:0000494	Downslanted palpebral fissures	1/12	OMIM:619493
80267	EDEM3	HP:0000490	Deeply set eye	1/12	OMIM:619493
80267	EDEM3	HP:0000414	Bulbous nose	6/12	OMIM:619493
80267	EDEM3	HP:0000411	Protruding ear	2/12	OMIM:619493
80267	EDEM3	HP:0001762	Talipes equinovarus	1/12	OMIM:619493
80267	EDEM3	HP:0000431	Wide nasal bridge	1/12	OMIM:619493
80267	EDEM3	HP:0000430	Underdeveloped nasal alae	9/12	OMIM:619493
80267	EDEM3	HP:0000508	Ptosis	2/12	OMIM:619493
80270	HSD3B7	HP:0002570	Steatorrhea	6/13	OMIM:607765
80270	HSD3B7	HP:0001399	Hepatic failure	-	OMIM:607765
80270	HSD3B7	HP:0001394	Cirrhosis	HP:0040283	ORPHA:79301
80270	HSD3B7	HP:0001394	Cirrhosis	-	OMIM:607765
80270	HSD3B7	HP:0000007	Autosomal recessive inheritance	-	OMIM:607765
80270	HSD3B7	HP:0002630	Fat malabsorption	-	OMIM:607765
80270	HSD3B7	HP:6000825	Reduced C27 3beta-HSD activity in cultured fibroblasts	1/1	OMIM:607765
80270	HSD3B7	HP:0001406	Intrahepatic cholestasis	-	OMIM:607765
80270	HSD3B7	HP:0002748	Rickets	5/13	OMIM:607765
80270	HSD3B7	HP:0002024	Malabsorption	HP:0040281	ORPHA:79301
80270	HSD3B7	HP:0002014	Diarrhea	-	OMIM:607765
80270	HSD3B7	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:79301
80270	HSD3B7	HP:0002240	Hepatomegaly	12/13	OMIM:607765
80270	HSD3B7	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:79301
80270	HSD3B7	HP:0200084	Giant cell hepatitis	-	OMIM:607765
80270	HSD3B7	HP:0011985	Acholic stools	2/13	OMIM:607765
80270	HSD3B7	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:79301
80270	HSD3B7	HP:0001080	Biliary tract abnormality	HP:0040281	ORPHA:79301
80270	HSD3B7	HP:0003623	Neonatal onset	-	OMIM:607765
80270	HSD3B7	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:79301
80270	HSD3B7	HP:0000662	Nyctalopia	HP:0040283	ORPHA:79301
80270	HSD3B7	HP:0003146	Hypocholesterolemia	-	OMIM:607765
80270	HSD3B7	HP:0003256	Abnormality of the coagulation cascade	-	OMIM:607765
80270	HSD3B7	HP:0000989	Pruritus	HP:0040283	ORPHA:79301
80270	HSD3B7	HP:0000952	Jaundice	HP:0040281	ORPHA:79301
80270	HSD3B7	HP:0000952	Jaundice	7/13	OMIM:607765
80270	HSD3B7	HP:0000939	Osteoporosis	HP:0040283	ORPHA:79301
80270	HSD3B7	HP:0001508	Failure to thrive	HP:0040281	ORPHA:79301
80270	HSD3B7	HP:0001508	Failure to thrive	-	OMIM:607765
80270	HSD3B7	HP:0006566	Neonatal cholestatic liver disease	HP:0040281	ORPHA:79301
80270	HSD3B7	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:79301
80270	HSD3B7	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:607765
80270	HSD3B7	HP:0002908	Conjugated hyperbilirubinemia	-	OMIM:607765
80270	HSD3B7	HP:0001744	Splenomegaly	HP:0040282	ORPHA:79301
80270	HSD3B7	HP:0001744	Splenomegaly	3/13	OMIM:607765
80270	HSD3B7	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:79301
80308	FLAD1	HP:0003701	Proximal muscle weakness	-	OMIM:255100
80308	FLAD1	HP:0001290	Generalized hypotonia	-	OMIM:255100
80308	FLAD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:255100
80308	FLAD1	HP:0002650	Scoliosis	HP:0040283	OMIM:255100
80308	FLAD1	HP:0002015	Dysphagia	-	OMIM:255100
80308	FLAD1	HP:0002093	Respiratory insufficiency	1/1	OMIM:255100
80308	FLAD1	HP:0004755	Supraventricular tachycardia	HP:0040283	OMIM:255100
80308	FLAD1	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:255100
80308	FLAD1	HP:0003593	Infantile onset	1/1	OMIM:255100
80308	FLAD1	HP:0003546	Exercise intolerance	-	OMIM:255100
80308	FLAD1	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:255100
80308	FLAD1	HP:0011968	Feeding difficulties	-	OMIM:255100
80308	FLAD1	HP:0001992	Organic aciduria	-	OMIM:255100
80308	FLAD1	HP:0003198	Myopathy	-	OMIM:255100
80308	FLAD1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	OMIM:255100
80308	FLAD1	HP:0001638	Cardiomyopathy	HP:0040283	OMIM:255100
80308	FLAD1	HP:0012548	Fatty replacement of skeletal muscle	-	OMIM:255100
80311	KLHL15	HP:0001250	Seizure	1/1	OMIM:300982
80311	KLHL15	HP:0001249	Intellectual disability	8/8	OMIM:300982
80311	KLHL15	HP:0001263	Global developmental delay	1/1	OMIM:300982
80311	KLHL15	HP:0008689	Bilateral cryptorchidism	1/1	OMIM:300982
80311	KLHL15	HP:0000054	Micropenis	1/1	OMIM:300982
80311	KLHL15	HP:0001344	Absent speech	1/1	OMIM:300982
80311	KLHL15	HP:0000154	Wide mouth	1/1	OMIM:300982
80311	KLHL15	HP:0001419	X-linked recessive inheritance	-	OMIM:300982
80311	KLHL15	HP:0002126	Polymicrogyria	1/1	OMIM:300982
80311	KLHL15	HP:0004279	Short palm	1/1	OMIM:300982
80311	KLHL15	HP:0006956	Lateral ventricle dilatation	1/1	OMIM:300982
80311	KLHL15	HP:0031936	Delayed ability to walk	1/1	OMIM:300982
80311	KLHL15	HP:0000750	Delayed speech and language development	1/1	OMIM:300982
80311	KLHL15	HP:0000280	Coarse facial features	1/1	OMIM:300982
80311	KLHL15	HP:0000463	Anteverted nares	1/1	OMIM:300982
80320	SP6	HP:0000006	Autosomal dominant inheritance	-	OMIM:620104
80320	SP6	HP:0006297	Enamel hypoplasia	10/10	OMIM:620104
80320	SP6	HP:0000705	Amelogenesis imperfecta	10/10	OMIM:620104
80324	PUS1	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2598
80324	PUS1	HP:0001290	Generalized hypotonia	1/2	OMIM:600462
80324	PUS1	HP:0001252	Hypotonia	1/2	OMIM:600462
80324	PUS1	HP:0001252	Hypotonia	HP:0040281	ORPHA:2598
80324	PUS1	HP:0001249	Intellectual disability	1/2	OMIM:600462
80324	PUS1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2598
80324	PUS1	HP:0001382	Joint hypermobility	1/2	OMIM:600462
80324	PUS1	HP:0001324	Muscle weakness	2/2	OMIM:600462
80324	PUS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:600462
80324	PUS1	HP:0002650	Scoliosis	HP:0040282	ORPHA:2598
80324	PUS1	HP:0012132	Erythroid hyperplasia	-	OMIM:600462
80324	PUS1	HP:0003307	Hyperlordosis	1/2	OMIM:600462
80324	PUS1	HP:0003323	Progressive muscle weakness	-	OMIM:600462
80324	PUS1	HP:0002091	Restrictive ventilatory defect	1/2	OMIM:600462
80324	PUS1	HP:0003391	Gowers sign	1/2	OMIM:600462
80324	PUS1	HP:0002151	Increased circulating lactate concentration	1/2	OMIM:600462
80324	PUS1	HP:0003457	EMG abnormality	HP:0040281	ORPHA:2598
80324	PUS1	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:600462
80324	PUS1	HP:0003593	Infantile onset	1/2	OMIM:600462
80324	PUS1	HP:0003546	Exercise intolerance	0/2	OMIM:600462
80324	PUS1	HP:0009743	Distichiasis	HP:0040284	OMIM:600462
80324	PUS1	HP:0009743	Distichiasis	HP:0040281	ORPHA:2598
80324	PUS1	HP:0008347	Decreased activity of mitochondrial complex IV	2/2	OMIM:600462
80324	PUS1	HP:0020081	Pappenheimer bodies	-	OMIM:600462
80324	PUS1	HP:0003691	Scapular winging	1/2	OMIM:600462
80324	PUS1	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1/1	OMIM:600462
80324	PUS1	HP:0001924	Sideroblastic anemia	2/2	OMIM:600462
80324	PUS1	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040281	ORPHA:2598
80324	PUS1	HP:0001935	Microcytic anemia	-	OMIM:600462
80324	PUS1	HP:0001931	Hypochromic anemia	-	OMIM:600462
80324	PUS1	HP:0001903	Anemia	HP:0040281	ORPHA:2598
80324	PUS1	HP:0009055	Generalized limb muscle atrophy	-	OMIM:600462
80324	PUS1	HP:0009055	Generalized limb muscle atrophy	HP:0040281	ORPHA:2598
80324	PUS1	HP:0011463	Childhood onset	1/2	OMIM:600462
80324	PUS1	HP:0003198	Myopathy	HP:0040281	ORPHA:2598
80324	PUS1	HP:0003196	Short nose	HP:0040282	ORPHA:2598
80324	PUS1	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2598
80324	PUS1	HP:0003128	Lactic acidosis	-	OMIM:600462
80324	PUS1	HP:0000823	Delayed puberty	-	OMIM:600462
80324	PUS1	HP:0000823	Delayed puberty	HP:0040282	ORPHA:2598
80324	PUS1	HP:0040075	Hypopituitarism	1/2	OMIM:600462
80324	PUS1	HP:0003200	Ragged-red muscle fibers	1/1	OMIM:600462
80324	PUS1	HP:0003281	Increased circulating ferritin concentration	-	OMIM:600462
80324	PUS1	HP:0000980	Pallor	-	OMIM:600462
80324	PUS1	HP:0002808	Kyphosis	HP:0040282	ORPHA:2598
80324	PUS1	HP:0000252	Microcephaly	-	OMIM:600462
80324	PUS1	HP:0000252	Microcephaly	HP:0040282	ORPHA:2598
80324	PUS1	HP:0000218	High palate	HP:0040281	ORPHA:2598
80324	PUS1	HP:0000218	High palate	-	OMIM:600462
80324	PUS1	HP:0001508	Failure to thrive	-	OMIM:600462
80324	PUS1	HP:0001510	Growth delay	1/2	OMIM:600462
80324	PUS1	HP:0000343	Long philtrum	HP:0040281	ORPHA:2598
80324	PUS1	HP:0000347	Micrognathia	HP:0040281	ORPHA:2598
80324	PUS1	HP:0000347	Micrognathia	-	OMIM:600462
80324	PUS1	HP:0000316	Hypertelorism	1/2	OMIM:600462
80324	PUS1	HP:0000457	Depressed nasal ridge	1/2	OMIM:600462
80324	PUS1	HP:0000501	Glaucoma	HP:0040282	ORPHA:2598
80324	PUS1	HP:0000580	Pigmentary retinopathy	1/2	OMIM:600462
80326	WNT10A	HP:0025114	Hypergranulosis	-	OMIM:257980
80326	WNT10A	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:248
80326	WNT10A	HP:0007410	Palmoplantar hyperhidrosis	3/11	OMIM:150400
80326	WNT10A	HP:0007410	Palmoplantar hyperhidrosis	1/3	OMIM:257980
80326	WNT10A	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040282	ORPHA:50944
80326	WNT10A	HP:0007380	Facial telangiectasia	HP:0040281	ORPHA:50944
80326	WNT10A	HP:0034946	Multiple eyelid margin cysts	1/1	OMIM:224750
80326	WNT10A	HP:0007556	Plantar hyperkeratosis	3/10	OMIM:257980
80326	WNT10A	HP:0007502	Follicular hyperkeratosis	1/3	OMIM:257980
80326	WNT10A	HP:0002671	Basal cell carcinoma	-	OMIM:224750
80326	WNT10A	HP:0002671	Basal cell carcinoma	HP:0040283	ORPHA:50944
80326	WNT10A	HP:0000007	Autosomal recessive inheritance	-	OMIM:224750
80326	WNT10A	HP:0000007	Autosomal recessive inheritance	-	OMIM:257980
80326	WNT10A	HP:0000007	Autosomal recessive inheritance	-	OMIM:150400
80326	WNT10A	HP:0000006	Autosomal dominant inheritance	-	OMIM:150400
80326	WNT10A	HP:0025493	Palmoplantar erythema	1/3	OMIM:257980
80326	WNT10A	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:99798
80326	WNT10A	HP:0006342	Peg-shaped maxillary lateral incisors	-	OMIM:150400
80326	WNT10A	HP:0006344	Abnormal primary molar morphology	HP:0040283	ORPHA:99798
80326	WNT10A	HP:0006349	Agenesis of permanent teeth	12/12	OMIM:150400
80326	WNT10A	HP:0006349	Agenesis of permanent teeth	10/10	OMIM:257980
80326	WNT10A	HP:0006336	Short dental root	HP:0040282	ORPHA:99798
80326	WNT10A	HP:0006323	Premature loss of primary teeth	HP:0040282	ORPHA:50944
80326	WNT10A	HP:0006323	Premature loss of primary teeth	HP:0040281	ORPHA:248
80326	WNT10A	HP:0006313	Widely spaced primary teeth	3/3	OMIM:257980
80326	WNT10A	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:99798
80326	WNT10A	HP:0006289	Agenesis of central incisor	HP:0040282	ORPHA:99798
80326	WNT10A	HP:0002164	Nail dysplasia	-	OMIM:257980
80326	WNT10A	HP:0003577	Congenital onset	2/3	OMIM:257980
80326	WNT10A	HP:0002231	Sparse body hair	1/1	OMIM:224750
80326	WNT10A	HP:0002231	Sparse body hair	6/9	OMIM:150400
80326	WNT10A	HP:0002231	Sparse body hair	5/8	OMIM:257980
80326	WNT10A	HP:0002213	Fine hair	-	OMIM:257980
80326	WNT10A	HP:0002213	Fine hair	HP:0040281	ORPHA:248
80326	WNT10A	HP:0002209	Sparse scalp hair	9/13	OMIM:257980
80326	WNT10A	HP:0002209	Sparse scalp hair	7/12	OMIM:150400
80326	WNT10A	HP:0008404	Nail dystrophy	1/1	OMIM:224750
80326	WNT10A	HP:0008391	Dystrophic fingernails	6/12	OMIM:150400
80326	WNT10A	HP:0008391	Dystrophic fingernails	3/3	OMIM:257980
80326	WNT10A	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:248
80326	WNT10A	HP:0025092	Epidermal acanthosis	-	OMIM:257980
80326	WNT10A	HP:0009804	Tooth agenesis	-	OMIM:150400
80326	WNT10A	HP:0100615	Ovarian neoplasm	HP:0040283	ORPHA:50944
80326	WNT10A	HP:0010783	Erythema	-	OMIM:257980
80326	WNT10A	HP:0032152	Keratosis pilaris	-	OMIM:257980
80326	WNT10A	HP:0010764	Short eyelashes	4/11	OMIM:150400
80326	WNT10A	HP:0010765	Palmar hyperkeratosis	3/11	OMIM:150400
80326	WNT10A	HP:0000613	Photophobia	3/10	OMIM:257980
80326	WNT10A	HP:0000613	Photophobia	3/11	OMIM:150400
80326	WNT10A	HP:0011359	Dry hair	-	OMIM:257980
80326	WNT10A	HP:0000696	Delayed eruption of permanent teeth	HP:0040282	ORPHA:99798
80326	WNT10A	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:99798
80326	WNT10A	HP:0000679	Taurodontia	HP:0040283	ORPHA:99798
80326	WNT10A	HP:0000677	Oligodontia	HP:0040280	ORPHA:99798
80326	WNT10A	HP:0000691	Microdontia	HP:0040282	ORPHA:99798
80326	WNT10A	HP:0000690	Agenesis of maxillary lateral incisor	HP:0040282	ORPHA:99798
80326	WNT10A	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:99798
80326	WNT10A	HP:0000685	Hypoplasia of teeth	HP:0040281	ORPHA:248
80326	WNT10A	HP:0000685	Hypoplasia of teeth	HP:0040283	ORPHA:99798
80326	WNT10A	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:99798
80326	WNT10A	HP:0011313	Narrow nail	-	OMIM:224750
80326	WNT10A	HP:0000668	Hypodontia	-	OMIM:257980
80326	WNT10A	HP:0000668	Hypodontia	HP:0040282	ORPHA:50944
80326	WNT10A	HP:0000668	Hypodontia	1/1	OMIM:224750
80326	WNT10A	HP:0011463	Childhood onset	1/3	OMIM:257980
80326	WNT10A	HP:0010298	Smooth tongue	2/3	OMIM:257980
80326	WNT10A	HP:0045075	Sparse eyebrow	7/10	OMIM:257980
80326	WNT10A	HP:0045075	Sparse eyebrow	7/11	OMIM:150400
80326	WNT10A	HP:0000975	Hyperhidrosis	2/10	OMIM:257980
80326	WNT10A	HP:0000972	Palmoplantar hyperkeratosis	2/3	OMIM:257980
80326	WNT10A	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:50944
80326	WNT10A	HP:0000982	Palmoplantar keratoderma	1/1	OMIM:224750
80326	WNT10A	HP:0000958	Dry skin	6/10	OMIM:257980
80326	WNT10A	HP:0000958	Dry skin	1/1	OMIM:224750
80326	WNT10A	HP:0000958	Dry skin	HP:0040281	ORPHA:248
80326	WNT10A	HP:0000958	Dry skin	7/11	OMIM:150400
80326	WNT10A	HP:0000968	Ectodermal dysplasia	-	OMIM:224750
80326	WNT10A	HP:0000968	Ectodermal dysplasia	HP:0040281	ORPHA:50944
80326	WNT10A	HP:0000966	Hypohidrosis	3/10	OMIM:257980
80326	WNT10A	HP:0000966	Hypohidrosis	3/11	OMIM:150400
80326	WNT10A	HP:0000966	Hypohidrosis	HP:0040282	ORPHA:248
80326	WNT10A	HP:0000963	Thin skin	3/11	OMIM:150400
80326	WNT10A	HP:0000962	Hyperkeratosis	1/1	OMIM:224750
80326	WNT10A	HP:0040162	Orthokeratosis	-	OMIM:257980
80326	WNT10A	HP:0008070	Sparse hair	1/1	OMIM:224750
80326	WNT10A	HP:0008070	Sparse hair	HP:0040281	ORPHA:50944
80326	WNT10A	HP:0031405	Poroma	-	OMIM:224750
80326	WNT10A	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:248
80326	WNT10A	HP:0001596	Alopecia	HP:0040282	ORPHA:248
80326	WNT10A	HP:0001596	Alopecia	HP:0040282	ORPHA:50944
80326	WNT10A	HP:0002860	Squamous cell carcinoma	-	OMIM:224750
80326	WNT10A	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:50944
80326	WNT10A	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:99798
80326	WNT10A	HP:0011078	Abnormality of canine	HP:0040283	ORPHA:99798
80326	WNT10A	HP:0011065	Conical incisor	1/3	OMIM:257980
80326	WNT10A	HP:0011053	Agenesis of mandibular premolar	HP:0040283	ORPHA:99798
80326	WNT10A	HP:0011051	Agenesis of premolar	HP:0040282	ORPHA:99798
80326	WNT10A	HP:0011056	Agenesis of first permanent molar tooth	HP:0040282	ORPHA:99798
80326	WNT10A	HP:0005216	Impaired mastication	HP:0040281	ORPHA:99798
80326	WNT10A	HP:0006481	Abnormality of primary teeth	5/11	OMIM:257980
80326	WNT10A	HP:0006481	Abnormality of primary teeth	6/12	OMIM:150400
80326	WNT10A	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:248
80326	WNT10A	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:99798
80326	WNT10A	HP:0031454	Apocrine hidrocystoma	-	OMIM:224750
80326	WNT10A	HP:0000320	Bird-like facies	-	OMIM:224750
80326	WNT10A	HP:0000320	Bird-like facies	HP:0040283	ORPHA:50944
80326	WNT10A	HP:0012472	Eclabion	HP:0040283	ORPHA:99798
80326	WNT10A	HP:0000478	Abnormality of the eye	-	OMIM:224750
80326	WNT10A	HP:0001792	Small nail	-	OMIM:224750
80326	WNT10A	HP:0001799	Short nail	3/3	OMIM:257980
80326	WNT10A	HP:0001798	Anonychia	-	OMIM:257980
80326	WNT10A	HP:0001807	Ridged nail	-	OMIM:224750
80326	WNT10A	HP:0001807	Ridged nail	1/3	OMIM:257980
80326	WNT10A	HP:0001806	Onycholysis	-	OMIM:224750
80326	WNT10A	HP:0001816	Thin nail	-	OMIM:224750
80326	WNT10A	HP:0001816	Thin nail	1/3	OMIM:257980
80326	WNT10A	HP:0001810	Dystrophic toenail	8/12	OMIM:150400
80326	WNT10A	HP:0001810	Dystrophic toenail	7/11	OMIM:257980
80326	WNT10A	HP:0011219	Short face	HP:0040283	ORPHA:99798
80331	DNAJC5	HP:0001250	Seizure	-	OMIM:162350
80331	DNAJC5	HP:0001251	Ataxia	-	OMIM:162350
80331	DNAJC5	HP:0008765	Auditory hallucination	-	OMIM:162350
80331	DNAJC5	HP:0000006	Autosomal dominant inheritance	-	OMIM:162350
80331	DNAJC5	HP:0001336	Myoclonus	-	OMIM:162350
80331	DNAJC5	HP:0001317	Abnormal cerebellum morphology	-	OMIM:162350
80331	DNAJC5	HP:0001300	Parkinsonism	-	OMIM:162350
80331	DNAJC5	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:162350
80331	DNAJC5	HP:0002074	Increased neuronal autofluorescent lipopigment	-	OMIM:162350
80331	DNAJC5	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:162350
80331	DNAJC5	HP:0002367	Visual hallucination	-	OMIM:162350
80331	DNAJC5	HP:0003678	Rapidly progressive	-	OMIM:162350
80331	DNAJC5	HP:0003657	Vascular granular osmiophilic material deposition	1/1	OMIM:162350
80331	DNAJC5	HP:0000716	Depression	1/1	OMIM:162350
80331	DNAJC5	HP:0000726	Dementia	1/1	OMIM:162350
80331	DNAJC5	HP:0011462	Young adult onset	1/1	OMIM:162350
80331	DNAJC5	HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	-	OMIM:162350
80331	DNAJC5	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	-	OMIM:162350
80331	DNAJC5	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	-	OMIM:162350
80331	DNAJC5	HP:0032794	Myoclonic seizure	1/1	OMIM:162350
80347	COASY	HP:0002454	Eye of the tiger anomaly of globus pallidus	HP:0040281	ORPHA:397725
80347	COASY	HP:0002453	Abnormal globus pallidus morphology	HP:0040281	ORPHA:397725
80347	COASY	HP:0001268	Mental deterioration	-	OMIM:615643
80347	COASY	HP:0001288	Gait disturbance	2/2	OMIM:615643
80347	COASY	HP:0001288	Gait disturbance	HP:0040281	ORPHA:397725
80347	COASY	HP:0001249	Intellectual disability	2/2	OMIM:615643
80347	COASY	HP:0001265	Hyporeflexia	-	OMIM:615643
80347	COASY	HP:0001260	Dysarthria	2/2	OMIM:615643
80347	COASY	HP:0001260	Dysarthria	HP:0040281	ORPHA:397725
80347	COASY	HP:0001263	Global developmental delay	-	OMIM:615643
80347	COASY	HP:0010994	Abnormal corpus striatum morphology	HP:0040281	ORPHA:397725
80347	COASY	HP:0002522	Areflexia of lower limbs	1/2	OMIM:615643
80347	COASY	HP:0002510	Spastic tetraplegia	1/2	OMIM:615643
80347	COASY	HP:0012048	Oromandibular dystonia	HP:0040281	ORPHA:397725
80347	COASY	HP:0012048	Oromandibular dystonia	1/2	OMIM:615643
80347	COASY	HP:0001332	Dystonia	2/2	OMIM:615643
80347	COASY	HP:0000007	Autosomal recessive inheritance	-	OMIM:618266
80347	COASY	HP:0000007	Autosomal recessive inheritance	-	OMIM:615643
80347	COASY	HP:0001321	Cerebellar hypoplasia	4/4	OMIM:618266
80347	COASY	HP:0001300	Parkinsonism	HP:0040281	ORPHA:397725
80347	COASY	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:397725
80347	COASY	HP:0002067	Bradykinesia	-	OMIM:615643
80347	COASY	HP:0002063	Rigidity	1/2	OMIM:615643
80347	COASY	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:615643
80347	COASY	HP:0002059	Cerebral atrophy	1/4	OMIM:618266
80347	COASY	HP:0003477	Peripheral axonal neuropathy	HP:0040281	ORPHA:397725
80347	COASY	HP:0002180	Neurodegeneration	-	OMIM:615643
80347	COASY	HP:0010557	Overlapping fingers	1/4	OMIM:618266
80347	COASY	HP:0033329	Abnormal postural reflex	1/2	OMIM:615643
80347	COASY	HP:0010663	Abnormal thalamus morphology	HP:0040281	ORPHA:397725
80347	COASY	HP:0007002	Motor axonal neuropathy	2/2	OMIM:615643
80347	COASY	HP:0002365	Hypoplasia of the brainstem	3/4	OMIM:618266
80347	COASY	HP:0003693	Distal amyotrophy	1/2	OMIM:615643
80347	COASY	HP:0002376	Developmental regression	-	OMIM:615643
80347	COASY	HP:0003676	Progressive	-	OMIM:615643
80347	COASY	HP:0002339	Abnormal caudate nucleus morphology	HP:0040281	ORPHA:397725
80347	COASY	HP:0002313	Spastic paraparesis	-	OMIM:615643
80347	COASY	HP:0002313	Spastic paraparesis	HP:0040281	ORPHA:397725
80347	COASY	HP:0006872	Cerebral hypoplasia	-	OMIM:618266
80347	COASY	HP:0006956	Lateral ventricle dilatation	1/4	OMIM:618266
80347	COASY	HP:0034197	Third trimester onset	1/4	OMIM:618266
80347	COASY	HP:0034198	Second trimester onset	4/4	OMIM:618266
80347	COASY	HP:0031936	Delayed ability to walk	1/2	OMIM:615643
80347	COASY	HP:0100034	Motor tics	1/2	OMIM:615643
80347	COASY	HP:0000716	Depression	-	OMIM:615643
80347	COASY	HP:0000722	Compulsive behaviors	1/2	OMIM:615643
80347	COASY	HP:0000722	Compulsive behaviors	HP:0040281	ORPHA:397725
80347	COASY	HP:0011463	Childhood onset	2/2	OMIM:615643
80347	COASY	HP:0011451	Primary microcephaly	4/4	OMIM:618266
80347	COASY	HP:0034392	Joint contracture	1/4	OMIM:618266
80347	COASY	HP:0001561	Polyhydramnios	1/4	OMIM:618266
80347	COASY	HP:0001522	Death in infancy	1/1	OMIM:618266
80347	COASY	HP:0030051	Tip-toe gait	2/2	OMIM:615643
80347	COASY	HP:0000340	Sloping forehead	1/1	OMIM:618266
80347	COASY	HP:0000347	Micrognathia	1/4	OMIM:618266
80347	COASY	HP:0001762	Talipes equinovarus	1/4	OMIM:618266
80347	COASY	HP:0001761	Pes cavus	1/2	OMIM:615643
80347	COASY	HP:0001838	Rocker bottom foot	1/4	OMIM:618266
80704	SLC19A3	HP:0002465	Poor speech	HP:0040282	ORPHA:263410
80704	SLC19A3	HP:0007256	Abnormal pyramidal sign	2/2	OMIM:607483
80704	SLC19A3	HP:0001298	Encephalopathy	-	OMIM:607483
80704	SLC19A3	HP:0001276	Hypertonia	-	OMIM:607483
80704	SLC19A3	HP:0001289	Confusion	8/12	OMIM:607483
80704	SLC19A3	HP:0001289	Confusion	HP:0040282	ORPHA:263410
80704	SLC19A3	HP:0001254	Lethargy	6/10	OMIM:607483
80704	SLC19A3	HP:0001250	Seizure	HP:0040282	ORPHA:263410
80704	SLC19A3	HP:0001250	Seizure	10/15	OMIM:607483
80704	SLC19A3	HP:0001251	Ataxia	HP:0040282	ORPHA:263410
80704	SLC19A3	HP:0001260	Dysarthria	HP:0040282	ORPHA:263410
80704	SLC19A3	HP:0001260	Dysarthria	8/10	OMIM:607483
80704	SLC19A3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:263410
80704	SLC19A3	HP:0001263	Global developmental delay	2/20	OMIM:607483
80704	SLC19A3	HP:0001259	Coma	10/10	OMIM:607483
80704	SLC19A3	HP:0002540	Inability to walk	2/2	OMIM:607483
80704	SLC19A3	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:263410
80704	SLC19A3	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:263410
80704	SLC19A3	HP:0001332	Dystonia	HP:0040282	ORPHA:263410
80704	SLC19A3	HP:0001332	Dystonia	15/15	OMIM:607483
80704	SLC19A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:607483
80704	SLC19A3	HP:0012179	Craniofacial dystonia	-	OMIM:607483
80704	SLC19A3	HP:0008947	Floppy infant	HP:0040283	ORPHA:263410
80704	SLC19A3	HP:0008936	Axial hypotonia	-	OMIM:607483
80704	SLC19A3	HP:0002015	Dysphagia	2/2	OMIM:607483
80704	SLC19A3	HP:0002013	Vomiting	5/10	OMIM:607483
80704	SLC19A3	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:263410
80704	SLC19A3	HP:0002066	Gait ataxia	1/2	OMIM:607483
80704	SLC19A3	HP:0002063	Rigidity	-	OMIM:607483
80704	SLC19A3	HP:0002062	Abnormal pyramidal tract morphology	-	OMIM:607483
80704	SLC19A3	HP:0002072	Chorea	2/10	OMIM:607483
80704	SLC19A3	HP:0003487	Babinski sign	5/10	OMIM:607483
80704	SLC19A3	HP:0002133	Status epilepticus	HP:0040283	ORPHA:263410
80704	SLC19A3	HP:0002134	Abnormal basal ganglia morphology	-	OMIM:607483
80704	SLC19A3	HP:0002134	Abnormal basal ganglia morphology	HP:0040281	ORPHA:263410
80704	SLC19A3	HP:0002179	Opisthotonus	3/10	OMIM:607483
80704	SLC19A3	HP:0002273	Tetraparesis	6/10	OMIM:607483
80704	SLC19A3	HP:0002273	Tetraparesis	HP:0040282	ORPHA:263410
80704	SLC19A3	HP:0010628	Facial palsy	3/10	OMIM:607483
80704	SLC19A3	HP:0002385	Paraparesis	-	OMIM:607483
80704	SLC19A3	HP:0002396	Cogwheel rigidity	9/10	OMIM:607483
80704	SLC19A3	HP:0002359	Frequent falls	1/3	OMIM:607483
80704	SLC19A3	HP:0002376	Developmental regression	3/3	OMIM:607483
80704	SLC19A3	HP:0002371	Loss of speech	2/2	OMIM:607483
80704	SLC19A3	HP:0002345	Action tremor	3/10	OMIM:607483
80704	SLC19A3	HP:0002329	Drowsiness	HP:0040282	ORPHA:263410
80704	SLC19A3	HP:0007105	Infantile encephalopathy	HP:0040282	ORPHA:263410
80704	SLC19A3	HP:0002300	Mutism	1/2	OMIM:607483
80704	SLC19A3	HP:0003621	Juvenile onset	11/12	OMIM:607483
80704	SLC19A3	HP:0007185	Loss of consciousness	HP:0040282	ORPHA:263410
80704	SLC19A3	HP:0000639	Nystagmus	-	OMIM:607483
80704	SLC19A3	HP:0001945	Fever	-	OMIM:607483
80704	SLC19A3	HP:0012697	Small basal ganglia	HP:0040281	ORPHA:263410
80704	SLC19A3	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:263410
80704	SLC19A3	HP:0012747	Abnormal brainstem MRI signal intensity	HP:0040282	ORPHA:263410
80704	SLC19A3	HP:0000737	Irritability	-	OMIM:607483
80704	SLC19A3	HP:0000737	Irritability	HP:0040282	ORPHA:263410
80704	SLC19A3	HP:0000711	Restlessness	HP:0040282	ORPHA:263410
80704	SLC19A3	HP:0011463	Childhood onset	3/3	OMIM:607483
80704	SLC19A3	HP:0011462	Young adult onset	1/2	OMIM:607483
80704	SLC19A3	HP:0030147	Truncal titubation	2/10	OMIM:607483
80704	SLC19A3	HP:0030215	Inappropriate crying	HP:0040282	ORPHA:263410
80704	SLC19A3	HP:0012469	Infantile spasms	HP:0040283	ORPHA:263410
80704	SLC19A3	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:263410
80704	SLC19A3	HP:0000508	Ptosis	1/2	OMIM:607483
80704	SLC19A3	HP:0000544	External ophthalmoplegia	-	OMIM:607483
80705	TSGA10	HP:0000007	Autosomal recessive inheritance	-	OMIM:617961
80705	TSGA10	HP:0011462	Young adult onset	1/1	OMIM:617961
80705	TSGA10	HP:0012869	Acephalic spermatozoa	1/1	OMIM:617961
80705	TSGA10	HP:0003251	Male infertility	1/1	OMIM:617961
80726	IQCN	HP:0033712	Repeated implantation failure	2/2	OMIM:620170
80726	IQCN	HP:0000007	Autosomal recessive inheritance	-	OMIM:620170
80726	IQCN	HP:0032561	Microcephalic sperm head	2/2	OMIM:620170
80726	IQCN	HP:0032562	Tapered sperm head	2/2	OMIM:620170
80726	IQCN	HP:0011462	Young adult onset	2/2	OMIM:620170
80726	IQCN	HP:0003251	Male infertility	2/2	OMIM:620170
80736	SLC44A4	HP:0000006	Autosomal dominant inheritance	-	OMIM:617606
80736	SLC44A4	HP:0003676	Progressive	-	OMIM:617606
80736	SLC44A4	HP:0011462	Young adult onset	-	OMIM:617606
80736	SLC44A4	HP:0000360	Tinnitus	-	OMIM:617606
80736	SLC44A4	HP:0000407	Sensorineural hearing impairment	-	OMIM:617606
80739	MPIG6B	HP:0000007	Autosomal recessive inheritance	-	OMIM:617441
80739	MPIG6B	HP:0011974	Myelofibrosis	4/4	OMIM:617441
80739	MPIG6B	HP:0004823	Anisopoikilocytosis	4/4	OMIM:617441
80739	MPIG6B	HP:0001903	Anemia	4/4	OMIM:617441
80739	MPIG6B	HP:0011463	Childhood onset	4/4	OMIM:617441
80739	MPIG6B	HP:0001744	Splenomegaly	2/4	OMIM:617441
80739	MPIG6B	HP:0001873	Thrombocytopenia	4/4	OMIM:617441
80746	TSEN2	HP:0007308	Extrapyramidal dyskinesia	2/3	OMIM:612389
80746	TSEN2	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040283	ORPHA:2524
80746	TSEN2	HP:0009879	Simplified gyral pattern	1/1	OMIM:612389
80746	TSEN2	HP:0001272	Cerebellar atrophy	-	OMIM:612389
80746	TSEN2	HP:0001270	Motor delay	HP:0040282	ORPHA:2524
80746	TSEN2	HP:0001250	Seizure	12/13	OMIM:612389
80746	TSEN2	HP:0001250	Seizure	HP:0040281	ORPHA:2524
80746	TSEN2	HP:0001252	Hypotonia	-	OMIM:612389
80746	TSEN2	HP:0001266	Choreoathetosis	HP:0040281	ORPHA:2524
80746	TSEN2	HP:0001257	Spasticity	1/1	OMIM:612389
80746	TSEN2	HP:0001257	Spasticity	HP:0040283	ORPHA:2524
80746	TSEN2	HP:0002536	Abnormal cortical gyration	HP:0040283	ORPHA:2524
80746	TSEN2	HP:0002509	Limb hypertonia	1/1	OMIM:612389
80746	TSEN2	HP:0003819	Death in childhood	2/3	OMIM:612389
80746	TSEN2	HP:0031162	Impaired oropharyngeal swallow response	HP:0040281	ORPHA:2524
80746	TSEN2	HP:0001332	Dystonia	3/4	OMIM:612389
80746	TSEN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:612389
80746	TSEN2	HP:0001320	Cerebellar vermis hypoplasia	1/1	OMIM:612389
80746	TSEN2	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:2524
80746	TSEN2	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:612389
80746	TSEN2	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:2524
80746	TSEN2	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:2524
80746	TSEN2	HP:0008936	Axial hypotonia	1/1	OMIM:612389
80746	TSEN2	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:2524
80746	TSEN2	HP:0007598	Bilateral single transverse palmar creases	HP:0040283	ORPHA:2524
80746	TSEN2	HP:0002719	Recurrent infections	HP:0040282	ORPHA:2524
80746	TSEN2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2524
80746	TSEN2	HP:0002033	Poor suck	1/1	OMIM:612389
80746	TSEN2	HP:0002033	Poor suck	HP:0040282	ORPHA:2524
80746	TSEN2	HP:0002015	Dysphagia	2/3	OMIM:612389
80746	TSEN2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:612389
80746	TSEN2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2524
80746	TSEN2	HP:0002072	Chorea	1/1	OMIM:612389
80746	TSEN2	HP:0002059	Cerebral atrophy	HP:0040283	OMIM:612389
80746	TSEN2	HP:0003487	Babinski sign	1/1	OMIM:612389
80746	TSEN2	HP:0003487	Babinski sign	HP:0040283	ORPHA:2524
80746	TSEN2	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:2524
80746	TSEN2	HP:0002119	Ventriculomegaly	HP:0040283	OMIM:612389
80746	TSEN2	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:2524
80746	TSEN2	HP:0002104	Apnea	HP:0040282	ORPHA:2524
80746	TSEN2	HP:0002169	Clonus	2/2	OMIM:612389
80746	TSEN2	HP:0002179	Opisthotonus	1/1	OMIM:612389
80746	TSEN2	HP:0002268	Paroxysmal dystonia	HP:0040282	ORPHA:2524
80746	TSEN2	HP:0003577	Congenital onset	5/5	OMIM:612389
80746	TSEN2	HP:0100704	Cerebral visual impairment	2/2	OMIM:612389
80746	TSEN2	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:2524
80746	TSEN2	HP:0003558	Viral infection-induced rhabdomyolysis	HP:0040283	ORPHA:2524
80746	TSEN2	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:2524
80746	TSEN2	HP:0011968	Feeding difficulties	1/1	OMIM:612389
80746	TSEN2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:2524
80746	TSEN2	HP:0002365	Hypoplasia of the brainstem	1/1	OMIM:612389
80746	TSEN2	HP:0002365	Hypoplasia of the brainstem	HP:0040282	ORPHA:2524
80746	TSEN2	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:2524
80746	TSEN2	HP:0002350	Cerebellar cyst	HP:0040284	ORPHA:2524
80746	TSEN2	HP:0200049	Upper limb hypertonia	HP:0040283	ORPHA:2524
80746	TSEN2	HP:0006850	Hypoplasia of the ventral pons	HP:0040281	ORPHA:2524
80746	TSEN2	HP:0006895	Lower limb hypertonia	HP:0040283	ORPHA:2524
80746	TSEN2	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:2524
80746	TSEN2	HP:0001999	Abnormal facial shape	-	ORPHA:2524
80746	TSEN2	HP:0006989	Dysplastic corpus callosum	HP:0040283	ORPHA:2524
80746	TSEN2	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:2524
80746	TSEN2	HP:0012765	Widened cerebellar subarachnoid space	HP:0040283	ORPHA:2524
80746	TSEN2	HP:0000954	Single transverse palmar crease	1/1	OMIM:612389
80746	TSEN2	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:2524
80746	TSEN2	HP:0000253	Progressive microcephaly	3/3	OMIM:612389
80746	TSEN2	HP:0000252	Microcephaly	2/2	OMIM:612389
80746	TSEN2	HP:0001561	Polyhydramnios	0/1	OMIM:612389
80746	TSEN2	HP:0001522	Death in infancy	1/3	OMIM:612389
80746	TSEN2	HP:0000340	Sloping forehead	1/1	OMIM:612389
80746	TSEN2	HP:0000340	Sloping forehead	HP:0040282	ORPHA:2524
80746	TSEN2	HP:0032792	Tonic seizure	1/1	OMIM:612389
80746	TSEN2	HP:0032794	Myoclonic seizure	1/1	OMIM:612389
80746	TSEN2	HP:0011171	Simple febrile seizure	HP:0040283	ORPHA:2524
80746	TSEN2	HP:0012469	Infantile spasms	HP:0040282	ORPHA:2524
80746	TSEN2	HP:0000505	Visual impairment	1/1	OMIM:612389
80776	B9D2	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:564
80776	B9D2	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:564
80776	B9D2	HP:0001162	Postaxial hand polydactyly	1/1	OMIM:614175
80776	B9D2	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
80776	B9D2	HP:0002419	Molar tooth sign on MRI	-	OMIM:614175
80776	B9D2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
80776	B9D2	HP:0001250	Seizure	-	OMIM:614175
80776	B9D2	HP:0001250	Seizure	HP:0040283	ORPHA:475
80776	B9D2	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
80776	B9D2	HP:0001251	Ataxia	HP:0040281	ORPHA:475
80776	B9D2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
80776	B9D2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
80776	B9D2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
80776	B9D2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:564
80776	B9D2	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
80776	B9D2	HP:0000068	Urethral atresia	HP:0040283	ORPHA:564
80776	B9D2	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:564
80776	B9D2	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:564
80776	B9D2	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:564
80776	B9D2	HP:0000054	Micropenis	1/1	OMIM:614175
80776	B9D2	HP:0000047	Hypospadias	1/1	OMIM:614175
80776	B9D2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:564
80776	B9D2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
80776	B9D2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614175
80776	B9D2	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:564
80776	B9D2	HP:0001337	Tremor	HP:0040283	ORPHA:475
80776	B9D2	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:564
80776	B9D2	HP:0001305	Dandy-Walker malformation	1/1	OMIM:614175
80776	B9D2	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
80776	B9D2	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
80776	B9D2	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:614175
80776	B9D2	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:564
80776	B9D2	HP:0000193	Bifid uvula	1/1	OMIM:614175
80776	B9D2	HP:0000175	Cleft palate	-	OMIM:614175
80776	B9D2	HP:0000175	Cleft palate	HP:0040282	ORPHA:564
80776	B9D2	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
80776	B9D2	HP:0000107	Renal cyst	2/2	OMIM:614175
80776	B9D2	HP:0002007	Frontal bossing	-	OMIM:614175
80776	B9D2	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
80776	B9D2	HP:0002085	Occipital encephalocele	2/2	OMIM:614175
80776	B9D2	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
80776	B9D2	HP:0002084	Encephalocele	HP:0040281	ORPHA:564
80776	B9D2	HP:0009487	Ulnar deviation of the hand	1/1	OMIM:614175
80776	B9D2	HP:0010459	True hermaphroditism	HP:0040283	ORPHA:564
80776	B9D2	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
80776	B9D2	HP:0002104	Apnea	HP:0040281	ORPHA:475
80776	B9D2	HP:0002198	Dilated fourth ventricle	1/1	OMIM:614175
80776	B9D2	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
80776	B9D2	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
80776	B9D2	HP:0100732	Pancreatic fibrosis	HP:0040283	ORPHA:564
80776	B9D2	HP:0002323	Anencephaly	HP:0040283	ORPHA:564
80776	B9D2	HP:0002323	Anencephaly	1/2	OMIM:614175
80776	B9D2	HP:0006870	Lobar holoprosencephaly	HP:0040282	ORPHA:564
80776	B9D2	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
80776	B9D2	HP:0000648	Optic atrophy	HP:0040282	ORPHA:564
80776	B9D2	HP:0000647	Sclerocornea	HP:0040282	ORPHA:564
80776	B9D2	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
80776	B9D2	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
80776	B9D2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
80776	B9D2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:564
80776	B9D2	HP:0011461	Fetal onset	3/3	OMIM:614175
80776	B9D2	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
80776	B9D2	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
80776	B9D2	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:564
80776	B9D2	HP:0100259	Postaxial polydactyly	2/2	OMIM:614175
80776	B9D2	HP:0000960	Sacral dimple	-	OMIM:614175
80776	B9D2	HP:0045025	Narrow palpebral fissure	-	OMIM:614175
80776	B9D2	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040282	ORPHA:564
80776	B9D2	HP:0000286	Epicanthus	-	OMIM:614175
80776	B9D2	HP:0000293	Full cheeks	HP:0040282	ORPHA:564
80776	B9D2	HP:0000276	Long face	HP:0040282	ORPHA:475
80776	B9D2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
80776	B9D2	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:564
80776	B9D2	HP:0000252	Microcephaly	HP:0040281	ORPHA:564
80776	B9D2	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:564
80776	B9D2	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
80776	B9D2	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:564
80776	B9D2	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
80776	B9D2	HP:0012385	Camptodactyly	1/1	OMIM:614175
80776	B9D2	HP:0000377	Abnormal pinna morphology	-	OMIM:614175
80776	B9D2	HP:0006563	Malformation of the hepatic ductal plate	2/2	OMIM:614175
80776	B9D2	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:564
80776	B9D2	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
80776	B9D2	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:564
80776	B9D2	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:564
80776	B9D2	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
80776	B9D2	HP:0000340	Sloping forehead	HP:0040282	ORPHA:564
80776	B9D2	HP:0000347	Micrognathia	HP:0040282	ORPHA:564
80776	B9D2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:564
80776	B9D2	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:564
80776	B9D2	HP:0000486	Strabismus	HP:0040283	ORPHA:475
80776	B9D2	HP:0000482	Microcornea	HP:0040282	ORPHA:564
80776	B9D2	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
80776	B9D2	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:564
80776	B9D2	HP:0001746	Asplenia	HP:0040283	ORPHA:564
80776	B9D2	HP:0001747	Accessory spleen	HP:0040283	ORPHA:564
80776	B9D2	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
80776	B9D2	HP:0006706	Cystic liver disease	HP:0040283	ORPHA:564
80776	B9D2	HP:0000518	Cataract	HP:0040282	ORPHA:564
80776	B9D2	HP:0000528	Anophthalmia	HP:0040283	ORPHA:564
80776	B9D2	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
80776	B9D2	HP:0000508	Ptosis	-	OMIM:614175
80776	B9D2	HP:0000508	Ptosis	HP:0040283	ORPHA:475
80776	B9D2	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:564
80776	B9D2	HP:0001830	Postaxial foot polydactyly	1/1	OMIM:614175
80776	B9D2	HP:0000568	Microphthalmia	HP:0040282	ORPHA:564
80776	B9D2	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:564
80776	B9D2	HP:0001883	Talipes	HP:0040282	ORPHA:564
80781	COL18A1	HP:0001132	Lens subluxation	11/33	OMIM:267750
80781	COL18A1	HP:0001104	Macular hypoplasia	2/2	OMIM:267750
80781	COL18A1	HP:0002436	Occipital meningocele	1/1	OMIM:267750
80781	COL18A1	HP:0001123	Visual field defect	-	OMIM:618880
80781	COL18A1	HP:0009917	Persistent pupillary membrane	3/12	OMIM:267750
80781	COL18A1	HP:0001272	Cerebellar atrophy	1/1	OMIM:267750
80781	COL18A1	HP:0001250	Seizure	HP:0040283	ORPHA:1571
80781	COL18A1	HP:0001250	Seizure	1/12	OMIM:267750
80781	COL18A1	HP:0001251	Ataxia	1/1	OMIM:267750
80781	COL18A1	HP:0001249	Intellectual disability	1/1	OMIM:267750
80781	COL18A1	HP:0001263	Global developmental delay	1/12	OMIM:267750
80781	COL18A1	HP:0000081	Duplicated collecting system	1/24	OMIM:267750
80781	COL18A1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:1571
80781	COL18A1	HP:0000075	Renal duplication	1/12	OMIM:267750
80781	COL18A1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:1571
80781	COL18A1	HP:0001382	Joint hypermobility	5/36	OMIM:267750
80781	COL18A1	HP:0001362	Calvarial skull defect	HP:0040281	ORPHA:1571
80781	COL18A1	HP:0001331	Absent septum pellucidum	1/1	OMIM:267750
80781	COL18A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:267750
80781	COL18A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618880
80781	COL18A1	HP:0500087	Peripapillary atrophy	2/2	OMIM:267750
80781	COL18A1	HP:0012109	Angle closure glaucoma	2/10	OMIM:618880
80781	COL18A1	HP:0000126	Hydronephrosis	1/12	OMIM:267750
80781	COL18A1	HP:0002021	Pyloric stenosis	1/24	OMIM:267750
80781	COL18A1	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:1571
80781	COL18A1	HP:0011800	Midface retrusion	HP:0040283	ORPHA:1571
80781	COL18A1	HP:0011800	Midface retrusion	3/14	OMIM:267750
80781	COL18A1	HP:0002085	Occipital encephalocele	3/12	OMIM:267750
80781	COL18A1	HP:0002085	Occipital encephalocele	HP:0040281	ORPHA:1571
80781	COL18A1	HP:0002059	Cerebral atrophy	1/1	OMIM:267750
80781	COL18A1	HP:0002119	Ventriculomegaly	1/2	OMIM:267750
80781	COL18A1	HP:0002126	Polymicrogyria	4/13	OMIM:267750
80781	COL18A1	HP:0003577	Congenital onset	6/6	OMIM:267750
80781	COL18A1	HP:0100764	Lymphangioma	HP:0040283	ORPHA:1571
80781	COL18A1	HP:0002293	Alopecia of scalp	1/12	OMIM:267750
80781	COL18A1	HP:0001083	Ectopia lentis	HP:0040283	ORPHA:1571
80781	COL18A1	HP:0000640	Gaze-evoked nystagmus	1/1	OMIM:267750
80781	COL18A1	HP:0000639	Nystagmus	3/5	OMIM:267750
80781	COL18A1	HP:0000639	Nystagmus	HP:0040282	ORPHA:1571
80781	COL18A1	HP:0000608	Macular degeneration	HP:0040281	ORPHA:1571
80781	COL18A1	HP:0000667	Phthisis bulbi	-	OMIM:267750
80781	COL18A1	HP:0000666	Horizontal nystagmus	1/2	OMIM:267750
80781	COL18A1	HP:0004327	Abnormal vitreous humor morphology	HP:0040282	ORPHA:1571
80781	COL18A1	HP:0100019	Cortical cataract	6/12	OMIM:267750
80781	COL18A1	HP:0011483	Anterior synechiae of the anterior chamber	-	OMIM:618880
80781	COL18A1	HP:0012796	Increased cup-to-disc ratio	-	OMIM:618880
80781	COL18A1	HP:0011463	Childhood onset	1/1	OMIM:267750
80781	COL18A1	HP:0012805	Iris transillumination defect	5/12	OMIM:267750
80781	COL18A1	HP:0003298	Spina bifida occulta	2/24	OMIM:267750
80781	COL18A1	HP:0000286	Epicanthus	4/25	OMIM:267750
80781	COL18A1	HP:0000286	Epicanthus	HP:0040283	ORPHA:1571
80781	COL18A1	HP:0001595	Abnormal hair morphology	HP:0040283	ORPHA:1571
80781	COL18A1	HP:0000275	Narrow face	1/1	OMIM:267750
80781	COL18A1	HP:0007773	Vitreoretinopathy	18/20	OMIM:267750
80781	COL18A1	HP:0007773	Vitreoretinopathy	HP:0040282	ORPHA:1571
80781	COL18A1	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:1571
80781	COL18A1	HP:0000252	Microcephaly	1/1	OMIM:267750
80781	COL18A1	HP:0030037	Bifid ureter	1/12	OMIM:267750
80781	COL18A1	HP:0030037	Bifid ureter	HP:0040283	ORPHA:1571
80781	COL18A1	HP:0007843	Attenuation of retinal blood vessels	4/5	OMIM:267750
80781	COL18A1	HP:0011003	High myopia	30/31	OMIM:267750
80781	COL18A1	HP:0000341	Narrow forehead	1/1	OMIM:267750
80781	COL18A1	HP:0001651	Dextrocardia	HP:0040283	ORPHA:1571
80781	COL18A1	HP:0032794	Myoclonic seizure	1/1	OMIM:267750
80781	COL18A1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1571
80781	COL18A1	HP:0001643	Patent ductus arteriosus	1/24	OMIM:267750
80781	COL18A1	HP:0007906	Ocular hypertension	5/10	OMIM:618880
80781	COL18A1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:1571
80781	COL18A1	HP:0005280	Depressed nasal bridge	1/24	OMIM:267750
80781	COL18A1	HP:0000486	Strabismus	HP:0040283	ORPHA:1571
80781	COL18A1	HP:0030211	Slow pupillary light response	-	OMIM:267750
80781	COL18A1	HP:0000414	Bulbous nose	1/1	OMIM:267750
80781	COL18A1	HP:0000518	Cataract	HP:0040283	ORPHA:1571
80781	COL18A1	HP:0000519	Developmental cataract	8/15	OMIM:267750
80781	COL18A1	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1571
80781	COL18A1	HP:0000506	Telecanthus	1/24	OMIM:267750
80781	COL18A1	HP:0000505	Visual impairment	8/8	OMIM:267750
80781	COL18A1	HP:0000501	Glaucoma	1/1	OMIM:267750
80781	COL18A1	HP:0000585	Band keratopathy	2/5	OMIM:267750
80781	COL18A1	HP:0011228	Horizontal eyebrow	1/1	OMIM:267750
80781	COL18A1	HP:0011220	Prominent forehead	1/1	OMIM:267750
80781	COL18A1	HP:0000572	Visual loss	HP:0040282	ORPHA:1571
80781	COL18A1	HP:0000541	Retinal detachment	HP:0040281	ORPHA:1571
80781	COL18A1	HP:0000541	Retinal detachment	18/28	OMIM:267750
80781	COL18A1	HP:0000533	Chorioretinal atrophy	21/21	OMIM:267750
80781	COL18A1	HP:0000543	Optic disc pallor	2/4	OMIM:267750
80781	COL18A1	HP:0000545	Myopia	HP:0040281	ORPHA:1571
80816	ASXL3	HP:0001188	Hand clenching	2/4	OMIM:615485
80816	ASXL3	HP:0001166	Arachnodactyly	2/12	OMIM:615485
80816	ASXL3	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:352577
80816	ASXL3	HP:0001290	Generalized hypotonia	1/4	OMIM:615485
80816	ASXL3	HP:0001276	Hypertonia	1/4	OMIM:615485
80816	ASXL3	HP:0001276	Hypertonia	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0001250	Seizure	4/15	OMIM:615485
80816	ASXL3	HP:0001250	Seizure	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0001252	Hypotonia	14/15	OMIM:615485
80816	ASXL3	HP:0001249	Intellectual disability	16/16	OMIM:615485
80816	ASXL3	HP:0001249	Intellectual disability	HP:0040281	ORPHA:352577
80816	ASXL3	HP:0001263	Global developmental delay	4/4	OMIM:615485
80816	ASXL3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:352577
80816	ASXL3	HP:0002558	Supernumerary nipple	1/4	OMIM:615485
80816	ASXL3	HP:0002566	Intestinal malrotation	1/12	OMIM:615485
80816	ASXL3	HP:0002540	Inability to walk	1/4	OMIM:615485
80816	ASXL3	HP:0002540	Inability to walk	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0002553	Highly arched eyebrow	5/7	OMIM:615485
80816	ASXL3	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0000028	Cryptorchidism	1/4	OMIM:615485
80816	ASXL3	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:352577
80816	ASXL3	HP:0006191	Deep palmar crease	3/4	OMIM:615485
80816	ASXL3	HP:0001344	Absent speech	5/8	OMIM:615485
80816	ASXL3	HP:0001344	Absent speech	HP:0040282	ORPHA:352577
80816	ASXL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:615485
80816	ASXL3	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0002650	Scoliosis	1/12	OMIM:615485
80816	ASXL3	HP:0002650	Scoliosis	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0000194	Open mouth	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0000154	Wide mouth	-	OMIM:615485
80816	ASXL3	HP:0008947	Floppy infant	HP:0040281	ORPHA:352577
80816	ASXL3	HP:0002705	High, narrow palate	HP:0040282	ORPHA:352577
80816	ASXL3	HP:0002719	Recurrent infections	1/3	OMIM:615485
80816	ASXL3	HP:0002020	Gastroesophageal reflux	2/4	OMIM:615485
80816	ASXL3	HP:0002000	Short columella	1/1	OMIM:615485
80816	ASXL3	HP:0002013	Vomiting	1/1	OMIM:615485
80816	ASXL3	HP:0004673	Decreased facial expression	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0002079	Hypoplasia of the corpus callosum	1/3	OMIM:615485
80816	ASXL3	HP:0040288	Nasogastric tube feeding	3/3	OMIM:615485
80816	ASXL3	HP:0009487	Ulnar deviation of the hand	3/7	OMIM:615485
80816	ASXL3	HP:0002187	Intellectual disability, profound	HP:0040282	ORPHA:352577
80816	ASXL3	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:352577
80816	ASXL3	HP:0100716	Self-injurious behavior	1/1	OMIM:615485
80816	ASXL3	HP:0011968	Feeding difficulties	12/15	OMIM:615485
80816	ASXL3	HP:0007068	Inferior cerebellar vermis hypoplasia	1/4	OMIM:615485
80816	ASXL3	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0001007	Hirsutism	2/16	OMIM:615485
80816	ASXL3	HP:0033454	Tube feeding	3/4	OMIM:615485
80816	ASXL3	HP:0009765	Low hanging columella	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0000629	Periorbital fullness	1/1	OMIM:615485
80816	ASXL3	HP:0011344	Severe global developmental delay	4/4	OMIM:615485
80816	ASXL3	HP:0000678	Dental crowding	2/12	OMIM:615485
80816	ASXL3	HP:0000678	Dental crowding	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0011330	Metopic synostosis	1/1	OMIM:615485
80816	ASXL3	HP:0000664	Synophrys	2/12	OMIM:615485
80816	ASXL3	HP:0000664	Synophrys	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0006956	Lateral ventricle dilatation	1/1	OMIM:615485
80816	ASXL3	HP:0031936	Delayed ability to walk	-	OMIM:615485
80816	ASXL3	HP:0011410	Caesarean section	9/12	OMIM:615485
80816	ASXL3	HP:0100023	Recurrent hand flapping	3/12	OMIM:615485
80816	ASXL3	HP:0100023	Recurrent hand flapping	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0000733	Motor stereotypy	1/1	OMIM:615485
80816	ASXL3	HP:0000750	Delayed speech and language development	12/12	OMIM:615485
80816	ASXL3	HP:0000717	Autism	1/1	OMIM:615485
80816	ASXL3	HP:0000729	Autistic behavior	10/13	OMIM:615485
80816	ASXL3	HP:0000729	Autistic behavior	HP:0040282	ORPHA:352577
80816	ASXL3	HP:0030799	Scaphocephaly	1/12	OMIM:615485
80816	ASXL3	HP:0003196	Short nose	4/7	OMIM:615485
80816	ASXL3	HP:0000924	Abnormality of the skeletal system	HP:0040282	ORPHA:352577
80816	ASXL3	HP:0003189	Long nose	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0000826	Precocious puberty	1/2	OMIM:615485
80816	ASXL3	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	1/12	OMIM:615485
80816	ASXL3	HP:0045074	Thin eyebrow	1/4	OMIM:615485
80816	ASXL3	HP:0008070	Sparse hair	1/4	OMIM:615485
80816	ASXL3	HP:0000286	Epicanthus	1/1	OMIM:615485
80816	ASXL3	HP:0000278	Retrognathia	1/4	OMIM:615485
80816	ASXL3	HP:0000272	Malar flattening	1/12	OMIM:615485
80816	ASXL3	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0000243	Trigonocephaly	2/7	OMIM:615485
80816	ASXL3	HP:0000239	Large fontanelles	1/4	OMIM:615485
80816	ASXL3	HP:0000252	Microcephaly	3/8	OMIM:615485
80816	ASXL3	HP:0000252	Microcephaly	HP:0040282	ORPHA:352577
80816	ASXL3	HP:0000219	Thin upper lip vermilion	1/12	OMIM:615485
80816	ASXL3	HP:0000218	High palate	11/16	OMIM:615485
80816	ASXL3	HP:0000212	Gingival overgrowth	1/4	OMIM:615485
80816	ASXL3	HP:0001561	Polyhydramnios	1/12	OMIM:615485
80816	ASXL3	HP:0000232	Everted lower lip vermilion	-	OMIM:615485
80816	ASXL3	HP:0000232	Everted lower lip vermilion	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0001522	Death in infancy	1/4	OMIM:615485
80816	ASXL3	HP:0001508	Failure to thrive	4/4	OMIM:615485
80816	ASXL3	HP:0001519	Disproportionate tall stature	3/12	OMIM:615485
80816	ASXL3	HP:0001519	Disproportionate tall stature	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0001511	Intrauterine growth retardation	2/3	OMIM:615485
80816	ASXL3	HP:0001510	Growth delay	-	OMIM:615485
80816	ASXL3	HP:0001601	Laryngomalacia	1/12	OMIM:615485
80816	ASXL3	HP:0000358	Posteriorly rotated ears	4/20	OMIM:615485
80816	ASXL3	HP:0000369	Low-set ears	4/7	OMIM:615485
80816	ASXL3	HP:0000340	Sloping forehead	1/1	OMIM:615485
80816	ASXL3	HP:0000347	Micrognathia	2/12	OMIM:615485
80816	ASXL3	HP:0000316	Hypertelorism	4/17	OMIM:615485
80816	ASXL3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0000331	Short chin	2/3	OMIM:615485
80816	ASXL3	HP:0001623	Breech presentation	1/1	OMIM:615485
80816	ASXL3	HP:0005280	Depressed nasal bridge	1/1	OMIM:615485
80816	ASXL3	HP:0000486	Strabismus	7/12	OMIM:615485
80816	ASXL3	HP:0000486	Strabismus	HP:0040282	ORPHA:352577
80816	ASXL3	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:615485
80816	ASXL3	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0000490	Deeply set eye	1/12	OMIM:615485
80816	ASXL3	HP:0000463	Anteverted nares	5/8	OMIM:615485
80816	ASXL3	HP:0000455	Broad nasal tip	-	OMIM:615485
80816	ASXL3	HP:0001763	Pes planus	1/12	OMIM:615485
80816	ASXL3	HP:0001763	Pes planus	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0000452	Choanal stenosis	1/12	OMIM:615485
80816	ASXL3	HP:0000414	Bulbous nose	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0000431	Wide nasal bridge	1/3	OMIM:615485
80816	ASXL3	HP:0000430	Underdeveloped nasal alae	2/5	OMIM:615485
80816	ASXL3	HP:0000430	Underdeveloped nasal alae	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0000426	Prominent nasal bridge	3/12	OMIM:615485
80816	ASXL3	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0000527	Long eyelashes	1/4	OMIM:615485
80816	ASXL3	HP:0000520	Proptosis	0/3	OMIM:615485
80816	ASXL3	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:615485
80816	ASXL3	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0011220	Prominent forehead	4/19	OMIM:615485
80816	ASXL3	HP:0011220	Prominent forehead	HP:0040283	ORPHA:352577
80816	ASXL3	HP:0000574	Thick eyebrow	1/12	OMIM:615485
80816	ASXL3	HP:0000540	Hypermetropia	2/7	OMIM:615485
80821	DDHD1	HP:0001288	Gait disturbance	-	OMIM:609340
80821	DDHD1	HP:0001258	Spastic paraplegia	1/3	OMIM:609340
80821	DDHD1	HP:0007340	Lower limb muscle weakness	-	OMIM:609340
80821	DDHD1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:101008
80821	DDHD1	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:101008
80821	DDHD1	HP:0001347	Hyperreflexia	3/3	OMIM:609340
80821	DDHD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:609340
80821	DDHD1	HP:0002650	Scoliosis	HP:0040282	ORPHA:101008
80821	DDHD1	HP:0002650	Scoliosis	-	OMIM:609340
80821	DDHD1	HP:0002063	Rigidity	HP:0040282	ORPHA:101008
80821	DDHD1	HP:0002064	Spastic gait	HP:0040282	ORPHA:101008
80821	DDHD1	HP:0002061	Lower limb spasticity	-	OMIM:609340
80821	DDHD1	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:101008
80821	DDHD1	HP:0003477	Peripheral axonal neuropathy	1/3	OMIM:609340
80821	DDHD1	HP:0003487	Babinski sign	HP:0040281	ORPHA:101008
80821	DDHD1	HP:0003487	Babinski sign	-	OMIM:609340
80821	DDHD1	HP:0002172	Postural instability	HP:0040282	ORPHA:101008
80821	DDHD1	HP:0003593	Infantile onset	1/3	OMIM:609340
80821	DDHD1	HP:0007021	Pain insensitivity	HP:0040282	ORPHA:101008
80821	DDHD1	HP:0003677	Slowly progressive	-	OMIM:609340
80821	DDHD1	HP:0002317	Unsteady gait	HP:0040282	ORPHA:101008
80821	DDHD1	HP:0010830	Impaired tactile sensation	HP:0040282	ORPHA:101008
80821	DDHD1	HP:0003621	Juvenile onset	2/3	OMIM:609340
80821	DDHD1	HP:0006944	Abolished vibration sense	HP:0040282	ORPHA:101008
80821	DDHD1	HP:0002936	Distal sensory impairment	-	OMIM:609340
80821	DDHD1	HP:0001761	Pes cavus	HP:0040282	ORPHA:101008
80821	DDHD1	HP:0001761	Pes cavus	-	OMIM:609340
80832	APOL4	HP:0410291	Negativism	-	OMIM:181500
80832	APOL4	HP:0000006	Autosomal dominant inheritance	-	OMIM:181500
80832	APOL4	HP:0100753	Schizophrenia	-	OMIM:181500
80832	APOL4	HP:0007086	Social and occupational deterioration	-	OMIM:181500
80832	APOL4	HP:0002353	EEG abnormality	-	OMIM:181500
80832	APOL4	HP:0000738	Hallucinations	-	OMIM:181500
80832	APOL4	HP:0000746	Delusion	-	OMIM:181500
80856	LNPK	HP:0010862	Delayed fine motor development	3/3	OMIM:618090
80856	LNPK	HP:0001272	Cerebellar atrophy	1/3	OMIM:618090
80856	LNPK	HP:0001288	Gait disturbance	3/3	OMIM:618090
80856	LNPK	HP:0001252	Hypotonia	3/3	OMIM:618090
80856	LNPK	HP:0001263	Global developmental delay	3/3	OMIM:618090
80856	LNPK	HP:0002540	Inability to walk	1/3	OMIM:618090
80856	LNPK	HP:0001344	Absent speech	1/3	OMIM:618090
80856	LNPK	HP:0000007	Autosomal recessive inheritance	-	OMIM:618090
80856	LNPK	HP:0001337	Tremor	1/3	OMIM:618090
80856	LNPK	HP:0001310	Dysmetria	1/3	OMIM:618090
80856	LNPK	HP:0001320	Cerebellar vermis hypoplasia	1/3	OMIM:618090
80856	LNPK	HP:0002069	Bilateral tonic-clonic seizure	1/3	OMIM:618090
80856	LNPK	HP:0002066	Gait ataxia	1/3	OMIM:618090
80856	LNPK	HP:0002063	Rigidity	2/2	OMIM:618090
80856	LNPK	HP:0002079	Hypoplasia of the corpus callosum	3/3	OMIM:618090
80856	LNPK	HP:0002123	Generalized myoclonic seizure	2/3	OMIM:618090
80856	LNPK	HP:0002194	Delayed gross motor development	3/3	OMIM:618090
80856	LNPK	HP:0002376	Developmental regression	3/3	OMIM:618090
80856	LNPK	HP:0002307	Drooling	1/2	OMIM:618090
80856	LNPK	HP:0000752	Hyperactivity	2/3	OMIM:618090
80856	LNPK	HP:0000750	Delayed speech and language development	3/3	OMIM:618090
80856	LNPK	HP:0011463	Childhood onset	3/3	OMIM:618090
80856	LNPK	HP:0031358	Vegetative state	1/3	OMIM:618090
80856	LNPK	HP:0032792	Tonic seizure	1/3	OMIM:618090
80856	LNPK	HP:0012434	Delayed early-childhood social milestone development	3/3	OMIM:618090
81027	TUBB1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613112
81027	TUBB1	HP:0003577	Congenital onset	1/1	OMIM:613112
81027	TUBB1	HP:0003540	Impaired platelet aggregation	0/2	OMIM:613112
81027	TUBB1	HP:0040185	Macrothrombocytopenia	2/2	OMIM:613112
81031	SLC2A10	HP:0009901	Crumpled ear	90/119	OMIM:121050
81031	SLC2A10	HP:0001181	Adducted thumb	42/90	OMIM:121050
81031	SLC2A10	HP:0001166	Arachnodactyly	104/124	OMIM:121050
81031	SLC2A10	HP:0001166	Arachnodactyly	124/197	OMIM:154700
81031	SLC2A10	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0001166	Arachnodactyly	34/37	OMIM:182212
81031	SLC2A10	HP:0001166	Arachnodactyly	6/15	OMIM:208050
81031	SLC2A10	HP:0001119	Keratoglobus	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0003745	Sporadic	-	OMIM:182212
81031	SLC2A10	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:154700
81031	SLC2A10	HP:0003717	Minimal subcutaneous fat	-	OMIM:182212
81031	SLC2A10	HP:0001290	Generalized hypotonia	-	OMIM:208050
81031	SLC2A10	HP:0001290	Generalized hypotonia	-	OMIM:182212
81031	SLC2A10	HP:0001270	Motor delay	-	OMIM:121050
81031	SLC2A10	HP:0001252	Hypotonia	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0001252	Hypotonia	HP:0040283	OMIM:208050
81031	SLC2A10	HP:0001252	Hypotonia	26/37	OMIM:182212
81031	SLC2A10	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0001249	Intellectual disability	HP:0040283	OMIM:208050
81031	SLC2A10	HP:0001249	Intellectual disability	-	OMIM:182212
81031	SLC2A10	HP:0001263	Global developmental delay	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0001263	Global developmental delay	-	OMIM:182212
81031	SLC2A10	HP:0001239	Wrist flexion contracture	3/15	OMIM:121050
81031	SLC2A10	HP:0007421	Telangiectases of the cheeks	-	OMIM:208050
81031	SLC2A10	HP:0006094	Finger joint hypermobility	2/2	OMIM:130050
81031	SLC2A10	HP:0006099	Metacarpophalangeal joint hyperextensibility	3/3	OMIM:130050
81031	SLC2A10	HP:0000098	Tall stature	-	OMIM:154700
81031	SLC2A10	HP:0001377	Limited elbow extension	94/109	OMIM:121050
81031	SLC2A10	HP:0001377	Limited elbow extension	29/199	OMIM:154700
81031	SLC2A10	HP:0001371	Flexion contracture	-	OMIM:208050
81031	SLC2A10	HP:0001371	Flexion contracture	-	OMIM:154700
81031	SLC2A10	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0001382	Joint hypermobility	1/1	OMIM:130050
81031	SLC2A10	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:3342
81031	SLC2A10	HP:0001382	Joint hypermobility	12/14	OMIM:208050
81031	SLC2A10	HP:0001382	Joint hypermobility	11/53	OMIM:154700
81031	SLC2A10	HP:0001382	Joint hypermobility	31/47	OMIM:182212
81031	SLC2A10	HP:0000023	Inguinal hernia	11/11	OMIM:130050
81031	SLC2A10	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:3342
81031	SLC2A10	HP:0000023	Inguinal hernia	8/15	OMIM:208050
81031	SLC2A10	HP:0000023	Inguinal hernia	19/34	OMIM:182212
81031	SLC2A10	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:3342
81031	SLC2A10	HP:0001363	Craniosynostosis	18/37	OMIM:182212
81031	SLC2A10	HP:0000028	Cryptorchidism	1/1	OMIM:130050
81031	SLC2A10	HP:0000028	Cryptorchidism	1/13	OMIM:182212
81031	SLC2A10	HP:0008872	Feeding difficulties in infancy	9/37	OMIM:182212
81031	SLC2A10	HP:0006201	Hypermobility of distal interphalangeal joints	-	OMIM:130050
81031	SLC2A10	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1/1	OMIM:130050
81031	SLC2A10	HP:0025392	Nodular pattern on pulmonary HRCT	1/1	OMIM:130050
81031	SLC2A10	HP:0031157	Carotid cavernous fistula	27/638	OMIM:130050
81031	SLC2A10	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0001328	Specific learning disability	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0002673	Coxa valga	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0000007	Autosomal recessive inheritance	-	OMIM:208050
81031	SLC2A10	HP:0000006	Autosomal dominant inheritance	-	OMIM:154700
81031	SLC2A10	HP:0000006	Autosomal dominant inheritance	-	OMIM:130050
81031	SLC2A10	HP:0000006	Autosomal dominant inheritance	-	OMIM:121050
81031	SLC2A10	HP:0000006	Autosomal dominant inheritance	-	OMIM:182212
81031	SLC2A10	HP:0002650	Scoliosis	16/53	OMIM:154700
81031	SLC2A10	HP:0002650	Scoliosis	11/15	OMIM:121050
81031	SLC2A10	HP:0002650	Scoliosis	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0002650	Scoliosis	3/15	OMIM:208050
81031	SLC2A10	HP:0002650	Scoliosis	23/37	OMIM:182212
81031	SLC2A10	HP:0002647	Aortic dissection	1/58	OMIM:154700
81031	SLC2A10	HP:0002647	Aortic dissection	HP:0040282	ORPHA:3342
81031	SLC2A10	HP:0002619	Varicose veins	-	OMIM:130050
81031	SLC2A10	HP:0002616	Aortic root aneurysm	HP:0040281	ORPHA:3342
81031	SLC2A10	HP:0002616	Aortic root aneurysm	11/22	OMIM:121050
81031	SLC2A10	HP:0002616	Aortic root aneurysm	2/16	OMIM:208050
81031	SLC2A10	HP:0002616	Aortic root aneurysm	45/58	OMIM:154700
81031	SLC2A10	HP:0002617	Vascular dilatation	HP:0040281	ORPHA:3342
81031	SLC2A10	HP:0032446	Pulmonary bulla	2/3	OMIM:130050
81031	SLC2A10	HP:0032447	Pulmonary bleb	2/9	OMIM:130050
81031	SLC2A10	HP:0000189	Narrow palate	-	OMIM:182212
81031	SLC2A10	HP:0000189	Narrow palate	-	OMIM:154700
81031	SLC2A10	HP:0000193	Bifid uvula	0/14	OMIM:208050
81031	SLC2A10	HP:0012158	Carotid artery dissection	1/16	OMIM:208050
81031	SLC2A10	HP:0012151	Hemothorax	3/4	OMIM:130050
81031	SLC2A10	HP:0000139	Uterine prolapse	-	OMIM:130050
81031	SLC2A10	HP:0007676	Hypoplasia of the iris	-	OMIM:154700
81031	SLC2A10	HP:0008962	Calf muscle hypoplasia	-	OMIM:121050
81031	SLC2A10	HP:0025420	Diffuse alveolar hemorrhage	1/1	OMIM:130050
81031	SLC2A10	HP:0002751	Kyphoscoliosis	48/105	OMIM:121050
81031	SLC2A10	HP:0002751	Kyphoscoliosis	37/146	OMIM:154700
81031	SLC2A10	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0002020	Gastroesophageal reflux	4/37	OMIM:182212
81031	SLC2A10	HP:0002036	Hiatus hernia	-	OMIM:208050
81031	SLC2A10	HP:0002036	Hiatus hernia	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0002007	Frontal bossing	-	OMIM:121050
81031	SLC2A10	HP:0002007	Frontal bossing	-	OMIM:182212
81031	SLC2A10	HP:0003302	Spondylolisthesis	-	OMIM:154700
81031	SLC2A10	HP:0100541	Femoral hernia	HP:0040282	ORPHA:3342
81031	SLC2A10	HP:0100545	Arterial stenosis	HP:0040281	ORPHA:3342
81031	SLC2A10	HP:0002098	Respiratory distress	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0002097	Emphysema	8/9	OMIM:130050
81031	SLC2A10	HP:0002097	Emphysema	HP:0040283	OMIM:154700
81031	SLC2A10	HP:0002094	Dyspnea	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0030961	Microspherophakia	2/53	OMIM:154700
81031	SLC2A10	HP:0008132	Medial rotation of the medial malleolus	-	OMIM:154700
81031	SLC2A10	HP:0009465	Ulnar deviation of finger	-	OMIM:121050
81031	SLC2A10	HP:0008138	Equinus calcaneus	31/146	OMIM:154700
81031	SLC2A10	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:3342
81031	SLC2A10	HP:0010499	Patellar subluxation	12/22	OMIM:121050
81031	SLC2A10	HP:0009473	Joint contracture of the hand	7/37	OMIM:182212
81031	SLC2A10	HP:0002140	Ischemic stroke	-	OMIM:208050
81031	SLC2A10	HP:0002108	Spontaneous pneumothorax	1/1	OMIM:130050
81031	SLC2A10	HP:0002107	Pneumothorax	2/2	OMIM:130050
81031	SLC2A10	HP:0002107	Pneumothorax	6/53	OMIM:154700
81031	SLC2A10	HP:0002105	Hemoptysis	6/10	OMIM:130050
81031	SLC2A10	HP:0100490	Camptodactyly of finger	10/14	OMIM:121050
81031	SLC2A10	HP:0003593	Infantile onset	5/16	OMIM:208050
81031	SLC2A10	HP:0003577	Congenital onset	5/5	OMIM:121050
81031	SLC2A10	HP:0003577	Congenital onset	12/26	OMIM:208050
81031	SLC2A10	HP:0100718	Uterine rupture	-	OMIM:130050
81031	SLC2A10	HP:0004872	Incisional hernia	-	OMIM:154700
81031	SLC2A10	HP:0100775	Dural ectasia	112/140	OMIM:154700
81031	SLC2A10	HP:0100749	Chest pain	1/2	OMIM:130050
81031	SLC2A10	HP:0002293	Alopecia of scalp	-	OMIM:130050
81031	SLC2A10	HP:0034671	Knee contracture	7/14	OMIM:121050
81031	SLC2A10	HP:0010668	Abnormal zygomatic bone morphology	HP:0040282	ORPHA:3342
81031	SLC2A10	HP:0430043	Thoracic lordosis	16/21	OMIM:154700
81031	SLC2A10	HP:0010648	Dermal translucency	3/3	OMIM:130050
81031	SLC2A10	HP:0007099	Chiari type I malformation	-	OMIM:182212
81031	SLC2A10	HP:0025019	Arterial rupture	-	OMIM:130050
81031	SLC2A10	HP:0001065	Striae distensae	11/53	OMIM:154700
81031	SLC2A10	HP:0001030	Fragile skin	-	OMIM:130050
81031	SLC2A10	HP:0001027	Soft, doughy skin	-	OMIM:208050
81031	SLC2A10	HP:0100645	Cystocele	-	OMIM:130050
81031	SLC2A10	HP:0001073	Cigarette-paper scars	-	OMIM:130050
81031	SLC2A10	HP:0001083	Ectopia lentis	HP:0040284	OMIM:121050
81031	SLC2A10	HP:0001083	Ectopia lentis	119/251	OMIM:154700
81031	SLC2A10	HP:0100633	Esophagitis	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0008453	Congenital kyphoscoliosis	-	OMIM:121050
81031	SLC2A10	HP:0008440	C1-C2 vertebral abnormality	-	OMIM:182212
81031	SLC2A10	HP:0009771	Osteolytic defects of the phalanges of the hand	-	OMIM:130050
81031	SLC2A10	HP:0004955	Generalized arterial tortuosity	15/15	OMIM:208050
81031	SLC2A10	HP:0003623	Neonatal onset	3/16	OMIM:208050
81031	SLC2A10	HP:0004970	Ascending tubular aorta aneurysm	-	OMIM:154700
81031	SLC2A10	HP:0004933	Ascending aortic dissection	1/1	OMIM:130050
81031	SLC2A10	HP:0003621	Juvenile onset	2/16	OMIM:208050
81031	SLC2A10	HP:0004944	Dilatation of the cerebral artery	-	OMIM:130050
81031	SLC2A10	HP:0004942	Aortic aneurysm	HP:0040281	ORPHA:3342
81031	SLC2A10	HP:0004942	Aortic aneurysm	8/37	OMIM:182212
81031	SLC2A10	HP:0004927	Pulmonary artery dilatation	-	OMIM:154700
81031	SLC2A10	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0009099	Median cleft palate	HP:0040282	ORPHA:3342
81031	SLC2A10	HP:0001977	Abnormal thrombosis	-	OMIM:208050
81031	SLC2A10	HP:0001903	Anemia	1/1	OMIM:130050
81031	SLC2A10	HP:0009023	Abdominal wall muscle weakness	5/37	OMIM:182212
81031	SLC2A10	HP:0000678	Dental crowding	8/53	OMIM:154700
81031	SLC2A10	HP:0000689	Dental malocclusion	-	OMIM:182212
81031	SLC2A10	HP:0011302	Long palm	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0004322	Short stature	-	OMIM:130050
81031	SLC2A10	HP:0005620	Hypermobility of interphalangeal joints	2/2	OMIM:130050
81031	SLC2A10	HP:0003088	Premature osteoarthritis	-	OMIM:154700
81031	SLC2A10	HP:0003083	Dislocated radial head	5/37	OMIM:182212
81031	SLC2A10	HP:0003066	Limited knee extension	38/45	OMIM:121050
81031	SLC2A10	HP:0003042	Elbow dislocation	1/12	OMIM:121050
81031	SLC2A10	HP:0003016	Metaphyseal widening	4/37	OMIM:182212
81031	SLC2A10	HP:0005684	Distal arthrogryposis	-	OMIM:121050
81031	SLC2A10	HP:0012745	Short palpebral fissure	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0012745	Short palpebral fissure	9/14	OMIM:208050
81031	SLC2A10	HP:0000767	Pectus excavatum	2/14	OMIM:121050
81031	SLC2A10	HP:0000767	Pectus excavatum	1/4	OMIM:130050
81031	SLC2A10	HP:0000767	Pectus excavatum	3/15	OMIM:208050
81031	SLC2A10	HP:0000767	Pectus excavatum	44/146	OMIM:154700
81031	SLC2A10	HP:0000767	Pectus excavatum	-	OMIM:182212
81031	SLC2A10	HP:0000768	Pectus carinatum	4/14	OMIM:121050
81031	SLC2A10	HP:0000768	Pectus carinatum	2/15	OMIM:208050
81031	SLC2A10	HP:0000768	Pectus carinatum	58/146	OMIM:154700
81031	SLC2A10	HP:0000768	Pectus carinatum	-	OMIM:182212
81031	SLC2A10	HP:0000704	Periodontitis	-	OMIM:130050
81031	SLC2A10	HP:0011463	Childhood onset	1/16	OMIM:208050
81031	SLC2A10	HP:0011462	Young adult onset	3/16	OMIM:208050
81031	SLC2A10	HP:0012774	Increased upper to lower segment ratio	1/1	OMIM:121050
81031	SLC2A10	HP:0012773	Reduced upper to lower segment ratio	54/146	OMIM:154700
81031	SLC2A10	HP:0000776	Congenital diaphragmatic hernia	7/15	OMIM:208050
81031	SLC2A10	HP:0004415	Pulmonary artery stenosis	5/16	OMIM:208050
81031	SLC2A10	HP:0004415	Pulmonary artery stenosis	HP:0040282	ORPHA:3342
81031	SLC2A10	HP:0005743	Avascular necrosis of the capital femoral epiphysis	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0030799	Scaphocephaly	-	OMIM:121050
81031	SLC2A10	HP:0003199	Decreased muscle mass	-	OMIM:154700
81031	SLC2A10	HP:0003196	Short nose	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0003179	Protrusio acetabuli	140/292	OMIM:154700
81031	SLC2A10	HP:0000883	Thin ribs	-	OMIM:182212
81031	SLC2A10	HP:0012819	Myocarditis	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0000822	Hypertension	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0000822	Hypertension	-	OMIM:208050
81031	SLC2A10	HP:0000895	Lateral clavicle hook	-	OMIM:182212
81031	SLC2A10	HP:0005879	Congenital finger flexion contractures	1/1	OMIM:121050
81031	SLC2A10	HP:0034391	Elbow contracture	10/14	OMIM:121050
81031	SLC2A10	HP:0003273	Hip contracture	32/121	OMIM:121050
81031	SLC2A10	HP:0000993	Molluscoid pseudotumors	-	OMIM:130050
81031	SLC2A10	HP:0000978	Bruising susceptibility	11/11	OMIM:130050
81031	SLC2A10	HP:0000978	Bruising susceptibility	-	OMIM:208050
81031	SLC2A10	HP:0000977	Soft skin	7/15	OMIM:208050
81031	SLC2A10	HP:0000974	Hyperextensible skin	2/2	OMIM:130050
81031	SLC2A10	HP:0000974	Hyperextensible skin	HP:0040282	ORPHA:3342
81031	SLC2A10	HP:0000974	Hyperextensible skin	7/37	OMIM:182212
81031	SLC2A10	HP:0000974	Hyperextensible skin	7/14	OMIM:208050
81031	SLC2A10	HP:0000973	Cutis laxa	5/14	OMIM:208050
81031	SLC2A10	HP:0000963	Thin skin	HP:0040282	ORPHA:3342
81031	SLC2A10	HP:0000963	Thin skin	4/13	OMIM:208050
81031	SLC2A10	HP:0000938	Osteopenia	-	OMIM:121050
81031	SLC2A10	HP:0000938	Osteopenia	-	OMIM:182212
81031	SLC2A10	HP:0005815	Supernumerary ribs	5/37	OMIM:182212
81031	SLC2A10	HP:0025599	Inferior oblique muscle overaction	3/573	OMIM:154700
81031	SLC2A10	HP:0025586	Hypertropia	8/573	OMIM:154700
81031	SLC2A10	HP:0000278	Retrognathia	-	OMIM:154700
81031	SLC2A10	HP:0000260	Wide anterior fontanel	-	OMIM:182212
81031	SLC2A10	HP:0000256	Macrocephaly	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0000275	Narrow face	-	OMIM:154700
81031	SLC2A10	HP:0000276	Long face	HP:0040282	ORPHA:3342
81031	SLC2A10	HP:0000276	Long face	14/14	OMIM:208050
81031	SLC2A10	HP:0000276	Long face	-	OMIM:154700
81031	SLC2A10	HP:0000272	Malar flattening	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0000272	Malar flattening	9/14	OMIM:208050
81031	SLC2A10	HP:0000272	Malar flattening	31/53	OMIM:154700
81031	SLC2A10	HP:0000268	Dolichocephaly	-	OMIM:121050
81031	SLC2A10	HP:0000268	Dolichocephaly	36/53	OMIM:154700
81031	SLC2A10	HP:0000268	Dolichocephaly	28/37	OMIM:182212
81031	SLC2A10	HP:0005136	Mitral annular calcification	-	OMIM:154700
81031	SLC2A10	HP:0002816	Genu recurvatum	-	OMIM:182212
81031	SLC2A10	HP:0002816	Genu recurvatum	-	OMIM:154700
81031	SLC2A10	HP:0002812	Coxa vara	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0002827	Hip dislocation	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0006380	Knee flexion contracture	1/1	OMIM:121050
81031	SLC2A10	HP:0000244	Brachyturricephaly	-	OMIM:182212
81031	SLC2A10	HP:0000238	Hydrocephalus	13/37	OMIM:182212
81031	SLC2A10	HP:0000252	Microcephaly	6/37	OMIM:182212
81031	SLC2A10	HP:0001582	Redundant skin	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0000248	Brachycephaly	-	OMIM:121050
81031	SLC2A10	HP:0002878	Respiratory failure	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0000218	High palate	34/53	OMIM:154700
81031	SLC2A10	HP:0000218	High palate	30/102	OMIM:121050
81031	SLC2A10	HP:0000218	High palate	5/13	OMIM:208050
81031	SLC2A10	HP:0000218	High palate	30/37	OMIM:182212
81031	SLC2A10	HP:0000233	Thin vermilion border	-	OMIM:130050
81031	SLC2A10	HP:0030009	Cervical insufficiency	-	OMIM:130050
81031	SLC2A10	HP:0002857	Genu valgum	4/37	OMIM:182212
81031	SLC2A10	HP:0002870	Obstructive sleep apnea	6/37	OMIM:182212
81031	SLC2A10	HP:0001537	Umbilical hernia	-	OMIM:208050
81031	SLC2A10	HP:0001537	Umbilical hernia	13/37	OMIM:182212
81031	SLC2A10	HP:0031364	Ecchymosis	-	OMIM:130050
81031	SLC2A10	HP:0001519	Disproportionate tall stature	-	OMIM:121050
81031	SLC2A10	HP:0001519	Disproportionate tall stature	38/53	OMIM:154700
81031	SLC2A10	HP:0007800	Increased axial length of the globe	-	OMIM:154700
81031	SLC2A10	HP:0012378	Fatigue	HP:0040282	ORPHA:3342
81031	SLC2A10	HP:0012385	Camptodactyly	86/110	OMIM:121050
81031	SLC2A10	HP:0012385	Camptodactyly	19/53	OMIM:154700
81031	SLC2A10	HP:0012385	Camptodactyly	24/37	OMIM:182212
81031	SLC2A10	HP:0000387	Absent earlobe	-	OMIM:130050
81031	SLC2A10	HP:0000377	Abnormal pinna morphology	-	OMIM:182212
81031	SLC2A10	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	-	OMIM:130050
81031	SLC2A10	HP:0006543	Cardiorespiratory arrest	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0006535	Recurrent intrapulmonary hemorrhage	-	OMIM:130050
81031	SLC2A10	HP:0006522	Repeated pneumothoraces	2/5	OMIM:130050
81031	SLC2A10	HP:0005180	Tricuspid regurgitation	26/58	OMIM:154700
81031	SLC2A10	HP:0006480	Premature loss of teeth	-	OMIM:130050
81031	SLC2A10	HP:0006487	Bowing of the long bones	25/79	OMIM:121050
81031	SLC2A10	HP:0001695	Cardiac arrest	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0000358	Posteriorly rotated ears	32/37	OMIM:182212
81031	SLC2A10	HP:0000369	Low-set ears	32/37	OMIM:182212
81031	SLC2A10	HP:0000343	Long philtrum	-	OMIM:208050
81031	SLC2A10	HP:0002999	Patellar dislocation	2/20	OMIM:121050
81031	SLC2A10	HP:0000347	Micrognathia	-	OMIM:154700
81031	SLC2A10	HP:0000347	Micrognathia	26/94	OMIM:121050
81031	SLC2A10	HP:0000347	Micrognathia	5/14	OMIM:208050
81031	SLC2A10	HP:0000347	Micrognathia	33/37	OMIM:182212
81031	SLC2A10	HP:0001650	Aortic valve stenosis	7/15	OMIM:208050
81031	SLC2A10	HP:0001647	Bicuspid aortic valve	-	OMIM:121050
81031	SLC2A10	HP:0001647	Bicuspid aortic valve	1/58	OMIM:154700
81031	SLC2A10	HP:0000316	Hypertelorism	HP:0040282	ORPHA:3342
81031	SLC2A10	HP:0000316	Hypertelorism	6/16	OMIM:208050
81031	SLC2A10	HP:0000316	Hypertelorism	28/37	OMIM:182212
81031	SLC2A10	HP:0001643	Patent ductus arteriosus	-	OMIM:121050
81031	SLC2A10	HP:0001644	Dilated cardiomyopathy	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0000327	Hypoplasia of the maxilla	16/37	OMIM:182212
81031	SLC2A10	HP:0001659	Aortic regurgitation	14/58	OMIM:154700
81031	SLC2A10	HP:0001659	Aortic regurgitation	-	OMIM:208050
81031	SLC2A10	HP:0002987	Elbow flexion contracture	1/1	OMIM:121050
81031	SLC2A10	HP:0001653	Mitral regurgitation	-	OMIM:121050
81031	SLC2A10	HP:0001653	Mitral regurgitation	33/58	OMIM:154700
81031	SLC2A10	HP:0001629	Ventricular septal defect	-	OMIM:121050
81031	SLC2A10	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0001635	Congestive heart failure	HP:0040281	ORPHA:3342
81031	SLC2A10	HP:0001635	Congestive heart failure	-	OMIM:154700
81031	SLC2A10	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0001631	Atrial septal defect	-	OMIM:121050
81031	SLC2A10	HP:0001634	Mitral valve prolapse	11/22	OMIM:121050
81031	SLC2A10	HP:0001634	Mitral valve prolapse	-	OMIM:130050
81031	SLC2A10	HP:0001634	Mitral valve prolapse	67/111	OMIM:154700
81031	SLC2A10	HP:0001634	Mitral valve prolapse	13/37	OMIM:182212
81031	SLC2A10	HP:0032934	Spontaneous cerebrospinal fluid leak	HP:0040284	OMIM:154700
81031	SLC2A10	HP:0012499	Descending aortic dissection	1/3	OMIM:130050
81031	SLC2A10	HP:0006687	Aortic tortuosity	14/15	OMIM:208050
81031	SLC2A10	HP:0005328	Progeroid facial appearance	7/14	OMIM:208050
81031	SLC2A10	HP:0005344	Abnormal carotid artery morphology	HP:0040281	ORPHA:3342
81031	SLC2A10	HP:0000405	Conductive hearing impairment	5/37	OMIM:182212
81031	SLC2A10	HP:0000400	Macrotia	HP:0040282	ORPHA:3342
81031	SLC2A10	HP:0000400	Macrotia	7/15	OMIM:208050
81031	SLC2A10	HP:0001704	Tricuspid valve prolapse	31/58	OMIM:154700
81031	SLC2A10	HP:0001714	Ventricular hypertrophy	-	OMIM:208050
81031	SLC2A10	HP:0000483	Astigmatism	3/53	OMIM:154700
81031	SLC2A10	HP:0000483	Astigmatism	5/15	OMIM:208050
81031	SLC2A10	HP:0000486	Strabismus	110/573	OMIM:154700
81031	SLC2A10	HP:0000486	Strabismus	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0000486	Strabismus	17/37	OMIM:182212
81031	SLC2A10	HP:0000494	Downslanted palpebral fissures	8/15	OMIM:208050
81031	SLC2A10	HP:0000494	Downslanted palpebral fissures	19/53	OMIM:154700
81031	SLC2A10	HP:0000494	Downslanted palpebral fissures	31/37	OMIM:182212
81031	SLC2A10	HP:0000490	Deeply set eye	25/63	OMIM:154700
81031	SLC2A10	HP:0000463	Anteverted nares	9/37	OMIM:182212
81031	SLC2A10	HP:0001786	Narrow foot	33/53	OMIM:154700
81031	SLC2A10	HP:0000470	Short neck	-	OMIM:121050
81031	SLC2A10	HP:0001763	Pes planus	27/53	OMIM:154700
81031	SLC2A10	HP:0001763	Pes planus	-	OMIM:182212
81031	SLC2A10	HP:0001765	Hammertoe	-	OMIM:154700
81031	SLC2A10	HP:0000444	Convex nasal ridge	8/14	OMIM:208050
81031	SLC2A10	HP:0000418	Narrow nasal ridge	-	OMIM:130050
81031	SLC2A10	HP:0001762	Talipes equinovarus	29/102	OMIM:121050
81031	SLC2A10	HP:0001762	Talipes equinovarus	-	OMIM:130050
81031	SLC2A10	HP:0001762	Talipes equinovarus	13/37	OMIM:182212
81031	SLC2A10	HP:0001761	Pes cavus	49/146	OMIM:154700
81031	SLC2A10	HP:0000518	Cataract	118/199	OMIM:154700
81031	SLC2A10	HP:0001840	Metatarsus adductus	-	OMIM:121050
81031	SLC2A10	HP:0001840	Metatarsus adductus	-	OMIM:182212
81031	SLC2A10	HP:0001840	Metatarsus adductus	7/53	OMIM:154700
81031	SLC2A10	HP:0001842	Foot acroosteolysis	-	OMIM:130050
81031	SLC2A10	HP:0000520	Proptosis	29/37	OMIM:182212
81031	SLC2A10	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0000506	Telecanthus	-	OMIM:182212
81031	SLC2A10	HP:0000508	Ptosis	16/37	OMIM:182212
81031	SLC2A10	HP:0001836	Camptodactyly of toe	2/14	OMIM:121050
81031	SLC2A10	HP:0000501	Glaucoma	29/625	OMIM:154700
81031	SLC2A10	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0000581	Blepharophimosis	-	OMIM:208050
81031	SLC2A10	HP:0000577	Exotropia	72/626	OMIM:154700
81031	SLC2A10	HP:0000586	Shallow orbits	13/37	OMIM:182212
81031	SLC2A10	HP:0000563	Keratoconus	-	OMIM:130050
81031	SLC2A10	HP:0000563	Keratoconus	3/14	OMIM:208050
81031	SLC2A10	HP:0000563	Keratoconus	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0011220	Prominent forehead	17/37	OMIM:182212
81031	SLC2A10	HP:0000565	Esotropia	12/573	OMIM:154700
81031	SLC2A10	HP:0000541	Retinal detachment	-	OMIM:154700
81031	SLC2A10	HP:0001883	Talipes	13/53	OMIM:154700
81031	SLC2A10	HP:0000545	Myopia	-	OMIM:121050
81031	SLC2A10	HP:0000545	Myopia	HP:0040283	ORPHA:3342
81031	SLC2A10	HP:0000545	Myopia	6/15	OMIM:208050
81031	SLC2A10	HP:0000545	Myopia	93/251	OMIM:154700
81031	SLC2A10	HP:0000545	Myopia	9/37	OMIM:182212
81034	SLC25A32	HP:0000007	Autosomal recessive inheritance	-	OMIM:616839
81034	SLC25A32	HP:0003546	Exercise intolerance	-	OMIM:616839
81034	SLC25A32	HP:0003200	Ragged-red muscle fibers	-	OMIM:616839
81494	CFHR5	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:614809
81494	CFHR5	HP:0000083	Renal insufficiency	15/28	OMIM:614809
81494	CFHR5	HP:0000099	Glomerulonephritis	-	OMIM:614809
81494	CFHR5	HP:0000006	Autosomal dominant inheritance	-	OMIM:614809
81494	CFHR5	HP:0004746	Glomerular subendothelial electron-dense deposits	9/9	OMIM:614809
81494	CFHR5	HP:0025005	Thickening of glomerular capillary wall	8/9	OMIM:614809
81494	CFHR5	HP:0003676	Progressive	-	OMIM:614809
81494	CFHR5	HP:0033493	Mesangial matrix expansion	8/9	OMIM:614809
81494	CFHR5	HP:0002907	Microscopic hematuria	22/22	OMIM:614809
81494	CFHR5	HP:0012576	Glomerular C3 deposition	9/9	OMIM:614809
81494	CFHR5	HP:0012574	Mesangial hypercellularity	8/9	OMIM:614809
81545	FBXO38	HP:0007269	Spinal muscular atrophy	-	OMIM:615575
81545	FBXO38	HP:0007210	Lower limb amyotrophy	-	OMIM:615575
81545	FBXO38	HP:0003701	Proximal muscle weakness	11/11	OMIM:615575
81545	FBXO38	HP:0001288	Gait disturbance	-	OMIM:615575
81545	FBXO38	HP:0007340	Lower limb muscle weakness	-	OMIM:615575
81545	FBXO38	HP:0003828	Variable expressivity	-	OMIM:615575
81545	FBXO38	HP:0000006	Autosomal dominant inheritance	-	OMIM:615575
81545	FBXO38	HP:0031108	Triceps weakness	-	OMIM:615575
81545	FBXO38	HP:0003394	Muscle spasm	-	OMIM:615575
81545	FBXO38	HP:0003431	Decreased motor nerve conduction velocity	5/5	OMIM:615575
81545	FBXO38	HP:0003444	EMG: chronic denervation signs	-	OMIM:615575
81545	FBXO38	HP:0002380	Fasciculations	-	OMIM:615575
81545	FBXO38	HP:0003677	Slowly progressive	-	OMIM:615575
81545	FBXO38	HP:0009072	Decreased Achilles reflex	10/11	OMIM:615575
81545	FBXO38	HP:0009046	Difficulty running	-	OMIM:615575
81545	FBXO38	HP:0009005	Weakness of the intrinsic hand muscles	-	OMIM:615575
81545	FBXO38	HP:0001761	Pes cavus	HP:0040283	OMIM:615575
81555	YIPF5	HP:0001263	Global developmental delay	5/6	OMIM:619278
81555	YIPF5	HP:0000007	Autosomal recessive inheritance	-	OMIM:619278
81555	YIPF5	HP:0002069	Bilateral tonic-clonic seizure	6/6	OMIM:619278
81555	YIPF5	HP:0003593	Infantile onset	6/6	OMIM:619278
81555	YIPF5	HP:0006956	Lateral ventricle dilatation	1/4	OMIM:619278
81555	YIPF5	HP:0000819	Diabetes mellitus	6/6	OMIM:619278
81555	YIPF5	HP:0040217	Elevated hemoglobin A1c	5/5	OMIM:619278
81555	YIPF5	HP:0000252	Microcephaly	6/6	OMIM:619278
81555	YIPF5	HP:0001518	Small for gestational age	6/6	OMIM:619278
81562	LMAN2L	HP:0010864	Intellectual disability, severe	7/7	OMIM:616887
81562	LMAN2L	HP:0001250	Seizure	-	OMIM:616887
81562	LMAN2L	HP:0001249	Intellectual disability	3/4	OMIM:617863
81562	LMAN2L	HP:0001263	Global developmental delay	-	OMIM:617863
81562	LMAN2L	HP:0001263	Global developmental delay	-	OMIM:616887
81562	LMAN2L	HP:0001344	Absent speech	1/4	OMIM:617863
81562	LMAN2L	HP:0000007	Autosomal recessive inheritance	-	OMIM:616887
81562	LMAN2L	HP:0000006	Autosomal dominant inheritance	-	OMIM:617863
81562	LMAN2L	HP:0002080	Intention tremor	4/4	OMIM:617863
81562	LMAN2L	HP:0002069	Bilateral tonic-clonic seizure	4/4	OMIM:617863
81562	LMAN2L	HP:0003593	Infantile onset	4/4	OMIM:617863
81562	LMAN2L	HP:0003593	Infantile onset	14/14	OMIM:616887
81562	LMAN2L	HP:0007018	Attention deficit hyperactivity disorder	1/4	OMIM:617863
81562	LMAN2L	HP:0000750	Delayed speech and language development	2/4	OMIM:617863
81562	LMAN2L	HP:0000718	Aggressive behavior	1/7	OMIM:616887
81570	CLPB	HP:0002487	Hyperkinetic movements	1/13	OMIM:616271
81570	CLPB	HP:0002490	Increased CSF lactate	1/1	OMIM:616271
81570	CLPB	HP:0010920	Zonular cataract	1/5	OMIM:616271
81570	CLPB	HP:0007270	Atypical absence seizure	3/6	OMIM:619835
81570	CLPB	HP:0410256	Infection associated neutropenia	HP:0040282	ORPHA:445038
81570	CLPB	HP:0410253	Myeloid maturation arrest	10/10	OMIM:619813
81570	CLPB	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:445038
81570	CLPB	HP:0001298	Encephalopathy	HP:0040282	ORPHA:445038
81570	CLPB	HP:0001276	Hypertonia	HP:0040283	ORPHA:445038
81570	CLPB	HP:0001272	Cerebellar atrophy	2/6	OMIM:619835
81570	CLPB	HP:0001272	Cerebellar atrophy	7/8	OMIM:616271
81570	CLPB	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:445038
81570	CLPB	HP:0001250	Seizure	HP:0040283	ORPHA:445038
81570	CLPB	HP:0001250	Seizure	2/10	OMIM:619813
81570	CLPB	HP:0001250	Seizure	6/19	OMIM:616271
81570	CLPB	HP:0001252	Hypotonia	HP:0040282	ORPHA:445038
81570	CLPB	HP:0001252	Hypotonia	5/6	OMIM:619835
81570	CLPB	HP:0001252	Hypotonia	3/5	OMIM:616271
81570	CLPB	HP:0001251	Ataxia	3/13	OMIM:616271
81570	CLPB	HP:0001249	Intellectual disability	HP:0040282	ORPHA:445038
81570	CLPB	HP:0001249	Intellectual disability	-	OMIM:616271
81570	CLPB	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:445038
81570	CLPB	HP:0001266	Choreoathetosis	1/5	OMIM:616271
81570	CLPB	HP:0001260	Dysarthria	1/13	OMIM:616271
81570	CLPB	HP:0001263	Global developmental delay	6/6	OMIM:619835
81570	CLPB	HP:0001263	Global developmental delay	1/10	OMIM:619813
81570	CLPB	HP:0001263	Global developmental delay	15/15	OMIM:616271
81570	CLPB	HP:0001257	Spasticity	4/14	OMIM:616271
81570	CLPB	HP:0001257	Spasticity	HP:0040282	ORPHA:445038
81570	CLPB	HP:0033606	Bone marrow maturation arrest	1/1	OMIM:616271
81570	CLPB	HP:0002518	Abnormal periventricular white matter morphology	2/6	OMIM:619835
81570	CLPB	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:445038
81570	CLPB	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:445038
81570	CLPB	HP:0001397	Hepatic steatosis	1/5	OMIM:616271
81570	CLPB	HP:0001371	Flexion contracture	1/5	OMIM:616271
81570	CLPB	HP:0001347	Hyperreflexia	1/5	OMIM:616271
81570	CLPB	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:445038
81570	CLPB	HP:0001332	Dystonia	4/18	OMIM:616271
81570	CLPB	HP:0001344	Absent speech	1/6	OMIM:619835
81570	CLPB	HP:0000007	Autosomal recessive inheritance	-	OMIM:616271
81570	CLPB	HP:0001337	Tremor	1/5	OMIM:616271
81570	CLPB	HP:0000006	Autosomal dominant inheritance	-	OMIM:619835
81570	CLPB	HP:0000006	Autosomal dominant inheritance	-	OMIM:619813
81570	CLPB	HP:0001336	Myoclonus	1/5	OMIM:616271
81570	CLPB	HP:0001336	Myoclonus	HP:0040282	ORPHA:445038
81570	CLPB	HP:0001319	Neonatal hypotonia	8/14	OMIM:616271
81570	CLPB	HP:0032435	Neonatal omphalitis	1/6	OMIM:619835
81570	CLPB	HP:0008905	Rhizomelia	1/5	OMIM:616271
81570	CLPB	HP:0025452	Pyoderma gangrenosum	HP:0040283	ORPHA:486
81570	CLPB	HP:0025439	Pharyngitis	HP:0040282	ORPHA:486
81570	CLPB	HP:0000155	Oral ulcer	HP:0040282	ORPHA:486
81570	CLPB	HP:0410018	Recurrent ear infections	HP:0040282	ORPHA:486
81570	CLPB	HP:0000121	Nephrocalcinosis	HP:0040281	ORPHA:445038
81570	CLPB	HP:0000107	Renal cyst	HP:0040281	ORPHA:445038
81570	CLPB	HP:0002719	Recurrent infections	6/19	OMIM:616271
81570	CLPB	HP:0002718	Recurrent bacterial infections	HP:0040281	ORPHA:486
81570	CLPB	HP:0002027	Abdominal pain	HP:0040282	ORPHA:486
81570	CLPB	HP:0002014	Diarrhea	HP:0040282	ORPHA:486
81570	CLPB	HP:0002098	Respiratory distress	1/5	OMIM:616271
81570	CLPB	HP:0002090	Pneumonia	HP:0040282	ORPHA:486
81570	CLPB	HP:0002069	Bilateral tonic-clonic seizure	1/6	OMIM:619835
81570	CLPB	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:445038
81570	CLPB	HP:0002059	Cerebral atrophy	8/13	OMIM:616271
81570	CLPB	HP:0002059	Cerebral atrophy	HP:0040282	ORPHA:445038
81570	CLPB	HP:0008151	Prolonged prothrombin time	1/5	OMIM:616271
81570	CLPB	HP:0002151	Increased circulating lactate concentration	1/5	OMIM:616271
81570	CLPB	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:445038
81570	CLPB	HP:0003453	Antineutrophil antibody positivity	HP:0040283	ORPHA:486
81570	CLPB	HP:0004798	Recurrent infection of the gastrointestinal tract	HP:0040282	ORPHA:486
81570	CLPB	HP:0002134	Abnormal basal ganglia morphology	HP:0040282	ORPHA:445038
81570	CLPB	HP:0002107	Pneumothorax	HP:0040284	ORPHA:445038
81570	CLPB	HP:0002188	Delayed CNS myelination	1/6	OMIM:619835
81570	CLPB	HP:0002197	Generalized-onset seizure	1/6	OMIM:619835
81570	CLPB	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:445038
81570	CLPB	HP:0002179	Opisthotonus	HP:0040282	ORPHA:445038
81570	CLPB	HP:0002179	Opisthotonus	1/5	OMIM:616271
81570	CLPB	HP:0033229	Brachioradialis areflexia	1/5	OMIM:616271
81570	CLPB	HP:0003593	Infantile onset	1/6	OMIM:619835
81570	CLPB	HP:0003593	Infantile onset	5/10	OMIM:619813
81570	CLPB	HP:0003593	Infantile onset	4/5	OMIM:616271
81570	CLPB	HP:0003577	Congenital onset	1/10	OMIM:619813
81570	CLPB	HP:0003577	Congenital onset	-	OMIM:616271
81570	CLPB	HP:0003535	3-Methylglutaconic aciduria	6/6	OMIM:619835
81570	CLPB	HP:0003535	3-Methylglutaconic aciduria	0/5	OMIM:619813
81570	CLPB	HP:0003535	3-Methylglutaconic aciduria	HP:0040281	ORPHA:445038
81570	CLPB	HP:0003535	3-Methylglutaconic aciduria	17/17	OMIM:616271
81570	CLPB	HP:0011968	Feeding difficulties	5/14	OMIM:616271
81570	CLPB	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:445038
81570	CLPB	HP:0004823	Anisopoikilocytosis	1/6	OMIM:619835
81570	CLPB	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:486
81570	CLPB	HP:0001028	Hemangioma	HP:0040283	ORPHA:486
81570	CLPB	HP:0002376	Developmental regression	1/5	OMIM:616271
81570	CLPB	HP:0002376	Developmental regression	HP:0040282	ORPHA:445038
81570	CLPB	HP:0003676	Progressive	-	OMIM:616271
81570	CLPB	HP:0100658	Cellulitis	HP:0040283	ORPHA:486
81570	CLPB	HP:0033454	Tube feeding	1/5	OMIM:616271
81570	CLPB	HP:0007153	Progressive extrapyramidal movement disorder	HP:0040282	ORPHA:445038
81570	CLPB	HP:0003623	Neonatal onset	5/6	OMIM:619835
81570	CLPB	HP:0005528	Bone marrow hypocellularity	HP:0040282	ORPHA:445038
81570	CLPB	HP:0000639	Nystagmus	2/14	OMIM:616271
81570	CLPB	HP:0000639	Nystagmus	HP:0040283	ORPHA:445038
81570	CLPB	HP:0001944	Dehydration	1/5	OMIM:616271
81570	CLPB	HP:0001945	Fever	HP:0040282	ORPHA:486
81570	CLPB	HP:0000629	Periorbital fullness	1/5	OMIM:616271
81570	CLPB	HP:0001909	Leukemia	HP:0040283	ORPHA:486
81570	CLPB	HP:0001903	Anemia	4/6	OMIM:619835
81570	CLPB	HP:0001915	Aplastic anemia	HP:0040283	ORPHA:486
81570	CLPB	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:445038
81570	CLPB	HP:0001998	Neonatal hypoglycemia	4/14	OMIM:616271
81570	CLPB	HP:0000750	Delayed speech and language development	6/6	OMIM:619835
81570	CLPB	HP:0000704	Periodontitis	HP:0040282	ORPHA:486
81570	CLPB	HP:0011463	Childhood onset	4/10	OMIM:619813
81570	CLPB	HP:0011461	Fetal onset	1/5	OMIM:616271
81570	CLPB	HP:0011451	Primary microcephaly	HP:0040281	ORPHA:445038
81570	CLPB	HP:0004429	Recurrent viral infections	HP:0040281	ORPHA:486
81570	CLPB	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:445038
81570	CLPB	HP:0000938	Osteopenia	HP:0040283	ORPHA:486
81570	CLPB	HP:0000252	Microcephaly	10/19	OMIM:616271
81570	CLPB	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:486
81570	CLPB	HP:0002878	Respiratory failure	HP:0040283	ORPHA:445038
81570	CLPB	HP:0000230	Gingivitis	HP:0040282	ORPHA:486
81570	CLPB	HP:0001561	Polyhydramnios	1/5	OMIM:616271
81570	CLPB	HP:0001558	Decreased fetal movement	1/5	OMIM:616271
81570	CLPB	HP:0000211	Trismus	1/14	OMIM:616271
81570	CLPB	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:486
81570	CLPB	HP:0001511	Intrauterine growth retardation	3/14	OMIM:616271
81570	CLPB	HP:0001510	Growth delay	2/5	OMIM:616271
81570	CLPB	HP:0001510	Growth delay	HP:0040282	ORPHA:445038
81570	CLPB	HP:0012384	Rhinitis	HP:0040282	ORPHA:486
81570	CLPB	HP:0006532	Recurrent pneumonia	1/5	OMIM:616271
81570	CLPB	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:445038
81570	CLPB	HP:0006480	Premature loss of teeth	HP:0040283	ORPHA:486
81570	CLPB	HP:0000347	Micrognathia	1/5	OMIM:616271
81570	CLPB	HP:0032794	Myoclonic seizure	1/6	OMIM:619835
81570	CLPB	HP:0012311	Increased total monocyte count	HP:0040282	ORPHA:486
81570	CLPB	HP:0001635	Congestive heart failure	1/5	OMIM:616271
81570	CLPB	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:445038
81570	CLPB	HP:0011107	Recurrent aphthous stomatitis	HP:0040282	ORPHA:486
81570	CLPB	HP:0000414	Bulbous nose	1/5	OMIM:616271
81570	CLPB	HP:0001744	Splenomegaly	2/10	OMIM:619813
81570	CLPB	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:486
81570	CLPB	HP:0006721	Acute lymphoblastic leukemia	HP:0040283	ORPHA:486
81570	CLPB	HP:0005484	Secondary microcephaly	4/6	OMIM:619835
81570	CLPB	HP:0000518	Cataract	7/15	OMIM:616271
81570	CLPB	HP:0000518	Cataract	HP:0040281	ORPHA:445038
81570	CLPB	HP:0000518	Cataract	2/10	OMIM:619813
81570	CLPB	HP:0001892	Abnormal bleeding	1/5	OMIM:616271
81570	CLPB	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:486
81570	CLPB	HP:0001880	Increased total eosinophil count	HP:0040283	ORPHA:486
81570	CLPB	HP:0001882	Decreased total leukocyte count	2/5	OMIM:616271
81570	CLPB	HP:0001873	Thrombocytopenia	1/5	OMIM:616271
81570	CLPB	HP:0001875	Decreased total neutrophil count	5/6	OMIM:619835
81570	CLPB	HP:0001875	Decreased total neutrophil count	HP:0040280	ORPHA:486
81570	CLPB	HP:0001875	Decreased total neutrophil count	14/19	OMIM:616271
81570	CLPB	HP:0001875	Decreased total neutrophil count	HP:0040281	ORPHA:445038
81575	APOLD1	HP:0033505	Livedo reticularis	1/4	OMIM:620715
81575	APOLD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620715
81575	APOLD1	HP:0006298	Prolonged bleeding after dental extraction	2/4	OMIM:620715
81575	APOLD1	HP:0000132	Menorrhagia	3/3	OMIM:620715
81575	APOLD1	HP:0002239	Gastrointestinal hemorrhage	2/4	OMIM:620715
81575	APOLD1	HP:0011463	Childhood onset	4/4	OMIM:620715
81575	APOLD1	HP:0030880	Raynaud phenomenon	2/3	OMIM:620715
81575	APOLD1	HP:0040184	Oral bleeding	1/4	OMIM:620715
81575	APOLD1	HP:0000421	Epistaxis	1/1	OMIM:620715
81603	TRIM8	HP:0007270	Atypical absence seizure	1/5	OMIM:619428
81603	TRIM8	HP:0010864	Intellectual disability, severe	1/1	OMIM:619428
81603	TRIM8	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:1934
81603	TRIM8	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0002421	Poor head control	HP:0040282	ORPHA:1934
81603	TRIM8	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0001254	Lethargy	HP:0040282	ORPHA:1934
81603	TRIM8	HP:0001250	Seizure	HP:0040280	ORPHA:1934
81603	TRIM8	HP:0001250	Seizure	1/1	OMIM:619428
81603	TRIM8	HP:0001252	Hypotonia	1/5	OMIM:619428
81603	TRIM8	HP:0001251	Ataxia	2/5	OMIM:619428
81603	TRIM8	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1934
81603	TRIM8	HP:0001265	Hyporeflexia	1/5	OMIM:619428
81603	TRIM8	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1934
81603	TRIM8	HP:0001263	Global developmental delay	5/5	OMIM:619428
81603	TRIM8	HP:0001257	Spasticity	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0033719	EEG with parietal epileptiform discharges	1/1	OMIM:619428
81603	TRIM8	HP:0008763	No social interaction	1/1	OMIM:619428
81603	TRIM8	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/5	OMIM:619428
81603	TRIM8	HP:0002521	Hypsarrhythmia	1/1	OMIM:619428
81603	TRIM8	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:1934
81603	TRIM8	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0000099	Glomerulonephritis	1/5	OMIM:619428
81603	TRIM8	HP:0000096	Glomerular sclerosis	1/5	OMIM:619428
81603	TRIM8	HP:0000093	Proteinuria	2/5	OMIM:619428
81603	TRIM8	HP:0000070	Ureterocele	HP:0040284	ORPHA:1934
81603	TRIM8	HP:0025336	Delayed ability to sit	2/5	OMIM:619428
81603	TRIM8	HP:0000054	Micropenis	HP:0040284	ORPHA:1934
81603	TRIM8	HP:0001382	Joint hypermobility	1/5	OMIM:619428
81603	TRIM8	HP:0000047	Hypospadias	1/2	OMIM:619428
81603	TRIM8	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1934
81603	TRIM8	HP:0001332	Dystonia	HP:0040284	ORPHA:1934
81603	TRIM8	HP:0033720	EEG with occipital epileptiform discharges	1/1	OMIM:619428
81603	TRIM8	HP:0001344	Absent speech	5/6	OMIM:619428
81603	TRIM8	HP:0001337	Tremor	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0000006	Autosomal dominant inheritance	-	OMIM:619428
81603	TRIM8	HP:0001336	Myoclonus	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0001302	Pachygyria	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0000175	Cleft palate	HP:0040284	ORPHA:1934
81603	TRIM8	HP:0008947	Floppy infant	HP:0040282	ORPHA:1934
81603	TRIM8	HP:0000100	Nephrotic syndrome	1/5	OMIM:619428
81603	TRIM8	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:1934
81603	TRIM8	HP:0002033	Poor suck	HP:0040282	ORPHA:1934
81603	TRIM8	HP:0002015	Dysphagia	HP:0040282	ORPHA:1934
81603	TRIM8	HP:0002069	Bilateral tonic-clonic seizure	3/5	OMIM:619428
81603	TRIM8	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:1934
81603	TRIM8	HP:0002120	Cerebral cortical atrophy	1/5	OMIM:619428
81603	TRIM8	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0002188	Delayed CNS myelination	2/5	OMIM:619428
81603	TRIM8	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0002213	Fine hair	1/5	OMIM:619428
81603	TRIM8	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1934
81603	TRIM8	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:1934
81603	TRIM8	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1934
81603	TRIM8	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:619428
81603	TRIM8	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:1934
81603	TRIM8	HP:0002376	Developmental regression	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1934
81603	TRIM8	HP:0002346	Head tremor	1/5	OMIM:619428
81603	TRIM8	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0010819	Atonic seizure	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0011344	Severe global developmental delay	1/1	OMIM:619428
81603	TRIM8	HP:0000664	Synophrys	2/5	OMIM:619428
81603	TRIM8	HP:0031936	Delayed ability to walk	5/5	OMIM:619428
81603	TRIM8	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0000733	Motor stereotypy	1/5	OMIM:619428
81603	TRIM8	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0010174	Broad phalanx of the toes	HP:0040284	ORPHA:1934
81603	TRIM8	HP:0000817	Reduced eye contact	1/1	OMIM:619428
81603	TRIM8	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1934
81603	TRIM8	HP:0000954	Single transverse palmar crease	1/5	OMIM:619428
81603	TRIM8	HP:0009381	Short finger	HP:0040284	ORPHA:1934
81603	TRIM8	HP:0002827	Hip dislocation	1/1	OMIM:619428
81603	TRIM8	HP:0000252	Microcephaly	HP:0040284	ORPHA:1934
81603	TRIM8	HP:0000252	Microcephaly	1/1	OMIM:619428
81603	TRIM8	HP:0000212	Gingival overgrowth	1/5	OMIM:619428
81603	TRIM8	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1934
81603	TRIM8	HP:0001508	Failure to thrive	HP:0040284	ORPHA:1934
81603	TRIM8	HP:0001500	Broad finger	HP:0040284	ORPHA:1934
81603	TRIM8	HP:0001510	Growth delay	1/1	OMIM:619428
81603	TRIM8	HP:0000340	Sloping forehead	HP:0040284	ORPHA:1934
81603	TRIM8	HP:0000343	Long philtrum	3/5	OMIM:619428
81603	TRIM8	HP:0032792	Tonic seizure	1/5	OMIM:619428
81603	TRIM8	HP:0000319	Smooth philtrum	1/5	OMIM:619428
81603	TRIM8	HP:0031491	Continuous spike and waves during slow sleep	1/5	OMIM:619428
81603	TRIM8	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:1934
81603	TRIM8	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:1934
81603	TRIM8	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:1934
81603	TRIM8	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:1934
81603	TRIM8	HP:0000486	Strabismus	HP:0040284	ORPHA:1934
81603	TRIM8	HP:0012469	Infantile spasms	1/5	OMIM:619428
81603	TRIM8	HP:0012469	Infantile spasms	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0000490	Deeply set eye	1/5	OMIM:619428
81603	TRIM8	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1934
81603	TRIM8	HP:0012448	Delayed myelination	HP:0040283	ORPHA:1934
81603	TRIM8	HP:0012450	Chronic constipation	1/1	OMIM:619428
81603	TRIM8	HP:0012554	Absent thumbnail	HP:0040284	ORPHA:1934
81607	NECTIN4	HP:0003777	Pili torti	5/5	OMIM:613573
81607	NECTIN4	HP:0002550	Absent facial hair	-	OMIM:613573
81607	NECTIN4	HP:0000007	Autosomal recessive inheritance	-	OMIM:613573
81607	NECTIN4	HP:0006297	Enamel hypoplasia	-	OMIM:613573
81607	NECTIN4	HP:0004692	4-5 toe syndactyly	2/6	OMIM:613573
81607	NECTIN4	HP:0002046	Heat intolerance	HP:0040283	OMIM:613573
81607	NECTIN4	HP:0010554	Cutaneous finger syndactyly	-	OMIM:613573
81607	NECTIN4	HP:0003577	Congenital onset	6/6	OMIM:613573
81607	NECTIN4	HP:0002232	Patchy alopecia	-	OMIM:613573
81607	NECTIN4	HP:0002209	Sparse scalp hair	-	OMIM:613573
81607	NECTIN4	HP:0002208	Coarse hair	-	OMIM:613573
81607	NECTIN4	HP:0010709	2-4 finger cutaneous syndactyly	3/6	OMIM:613573
81607	NECTIN4	HP:0010765	Palmar hyperkeratosis	-	OMIM:613573
81607	NECTIN4	HP:0000698	Conical tooth	-	OMIM:613573
81607	NECTIN4	HP:0000687	Widely spaced teeth	-	OMIM:613573
81607	NECTIN4	HP:0000653	Sparse eyelashes	-	OMIM:613573
81607	NECTIN4	HP:0005709	2-3 toe cutaneous syndactyly	6/6	OMIM:613573
81607	NECTIN4	HP:0000968	Ectodermal dysplasia	-	OMIM:613573
81607	NECTIN4	HP:0001596	Alopecia	6/6	OMIM:613573
81607	NECTIN4	HP:0001792	Small nail	-	OMIM:613573
81607	NECTIN4	HP:0001800	Hypoplastic toenails	-	OMIM:613573
81608	FIP1L1	HP:0031035	Chronic infection	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0002653	Bone pain	HP:0040283	ORPHA:520
81608	FIP1L1	HP:0025420	Diffuse alveolar hemorrhage	HP:0040283	ORPHA:520
81608	FIP1L1	HP:0031245	Productive cough	HP:0040283	ORPHA:520
81608	FIP1L1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:520
81608	FIP1L1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:520
81608	FIP1L1	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:520
81608	FIP1L1	HP:0002039	Anorexia	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0011900	Hypofibrinogenemia	HP:0040283	ORPHA:520
81608	FIP1L1	HP:0100758	Gangrene	HP:0040284	ORPHA:520
81608	FIP1L1	HP:0002321	Vertigo	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0100608	Metrorrhagia	HP:0040284	ORPHA:520
81608	FIP1L1	HP:0005521	Disseminated intravascular coagulation	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:520
81608	FIP1L1	HP:0001945	Fever	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0001903	Anemia	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0000790	Hematuria	HP:0040284	ORPHA:520
81608	FIP1L1	HP:0010280	Stomatitis	HP:0040283	ORPHA:520
81608	FIP1L1	HP:0000979	Purpura	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0000967	Petechiae	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:520
81608	FIP1L1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0031364	Ecchymosis	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0012378	Fatigue	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0030140	Oral cavity bleeding	HP:0040283	ORPHA:520
81608	FIP1L1	HP:0000421	Epistaxis	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0001824	Weight loss	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0001876	Pancytopenia	HP:0040282	ORPHA:520
81608	FIP1L1	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:520
81614	NIPA2	HP:0001270	Motor delay	HP:0040282	ORPHA:261183
81614	NIPA2	HP:0001250	Seizure	HP:0040283	ORPHA:261183
81614	NIPA2	HP:0001251	Ataxia	HP:0040283	ORPHA:261183
81614	NIPA2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:261183
81614	NIPA2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:261183
81614	NIPA2	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:261183
81614	NIPA2	HP:0000174	Abnormal palate morphology	HP:0040282	ORPHA:261183
81614	NIPA2	HP:0002198	Dilated fourth ventricle	HP:0040284	ORPHA:261183
81614	NIPA2	HP:0002172	Postural instability	HP:0040283	ORPHA:261183
81614	NIPA2	HP:0010522	Dyslexia	HP:0040282	ORPHA:261183
81614	NIPA2	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:261183
81614	NIPA2	HP:0100753	Schizophrenia	HP:0040283	ORPHA:261183
81614	NIPA2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:261183
81614	NIPA2	HP:0002370	Poor coordination	HP:0040283	ORPHA:261183
81614	NIPA2	HP:0002354	Memory impairment	HP:0040282	ORPHA:261183
81614	NIPA2	HP:0006891	Thick cerebral cortex	HP:0040282	ORPHA:261183
81614	NIPA2	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:261183
81614	NIPA2	HP:0000736	Short attention span	HP:0040283	ORPHA:261183
81614	NIPA2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:261183
81614	NIPA2	HP:0000717	Autism	HP:0040283	ORPHA:261183
81614	NIPA2	HP:0000729	Autistic behavior	HP:0040283	ORPHA:261183
81614	NIPA2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:261183
81614	NIPA2	HP:0000252	Microcephaly	HP:0040283	ORPHA:261183
81614	NIPA2	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:261183
81614	NIPA2	HP:0005160	Total anomalous pulmonary venous return	HP:0040284	ORPHA:261183
81614	NIPA2	HP:0000337	Broad forehead	HP:0040283	ORPHA:261183
81614	NIPA2	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:261183
81614	NIPA2	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:261183
81614	NIPA2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:261183
81614	NIPA2	HP:0001636	Tetralogy of Fallot	HP:0040284	ORPHA:261183
81614	NIPA2	HP:0001631	Atrial septal defect	HP:0040284	ORPHA:261183
81615	TMEM163	HP:0010864	Intellectual disability, severe	1/4	OMIM:620243
81615	TMEM163	HP:0001250	Seizure	3/4	OMIM:620243
81615	TMEM163	HP:0001252	Hypotonia	5/6	OMIM:620243
81615	TMEM163	HP:0001260	Dysarthria	1/4	OMIM:620243
81615	TMEM163	HP:0001263	Global developmental delay	3/4	OMIM:620243
81615	TMEM163	HP:0001332	Dystonia	1/4	OMIM:620243
81615	TMEM163	HP:0000006	Autosomal dominant inheritance	-	OMIM:620243
81615	TMEM163	HP:0002066	Gait ataxia	2/4	OMIM:620243
81615	TMEM163	HP:0002188	Delayed CNS myelination	6/6	OMIM:620243
81615	TMEM163	HP:0003593	Infantile onset	1/2	OMIM:620243
81615	TMEM163	HP:0003623	Neonatal onset	5/6	OMIM:620243
81615	TMEM163	HP:0000639	Nystagmus	6/6	OMIM:620243
81615	TMEM163	HP:0011342	Mild global developmental delay	2/2	OMIM:620243
81615	TMEM163	HP:0031987	Diminished ability to concentrate	1/4	OMIM:620243
81615	TMEM163	HP:0031936	Delayed ability to walk	2/2	OMIM:620243
81615	TMEM163	HP:0000750	Delayed speech and language development	3/6	OMIM:620243
81615	TMEM163	HP:0000817	Reduced eye contact	1/4	OMIM:620243
81615	TMEM163	HP:0000252	Microcephaly	1/4	OMIM:620243
81615	TMEM163	HP:0001510	Growth delay	1/4	OMIM:620243
81615	TMEM163	HP:0000592	Blue sclerae	1/4	OMIM:620243
81620	CDT1	HP:0009939	Mandibular aplasia	HP:0040281	ORPHA:2554
81620	CDT1	HP:0009892	Anotia	HP:0040281	ORPHA:2554
81620	CDT1	HP:0008551	Microtia	7/7	OMIM:613804
81620	CDT1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
81620	CDT1	HP:0001293	Cranial nerve compression	-	OMIM:131300
81620	CDT1	HP:0001252	Hypotonia	2/7	OMIM:615777
81620	CDT1	HP:0001249	Intellectual disability	0/7	OMIM:613804
81620	CDT1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2554
81620	CDT1	HP:0001249	Intellectual disability	5/7	OMIM:615777
81620	CDT1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2554
81620	CDT1	HP:0001263	Global developmental delay	-	OMIM:615777
81620	CDT1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:2554
81620	CDT1	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:2554
81620	CDT1	HP:0002515	Waddling gait	54/102	OMIM:131300
81620	CDT1	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:2554
81620	CDT1	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:2554
81620	CDT1	HP:0000059	Hypoplastic labia majora	HP:0040282	ORPHA:2554
81620	CDT1	HP:0000039	Epispadias	HP:0040283	ORPHA:2554
81620	CDT1	HP:0001382	Joint hypermobility	-	OMIM:615777
81620	CDT1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:2554
81620	CDT1	HP:0000047	Hypospadias	HP:0040283	ORPHA:2554
81620	CDT1	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:2554
81620	CDT1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
81620	CDT1	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2554
81620	CDT1	HP:0000028	Cryptorchidism	1/2	OMIM:613804
81620	CDT1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
81620	CDT1	HP:0001328	Specific learning disability	HP:0040283	ORPHA:2554
81620	CDT1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
81620	CDT1	HP:0001324	Muscle weakness	40/96	OMIM:131300
81620	CDT1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
81620	CDT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
81620	CDT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613804
81620	CDT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
81620	CDT1	HP:0002650	Scoliosis	12/14	OMIM:131300
81620	CDT1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
81620	CDT1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
81620	CDT1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
81620	CDT1	HP:0000179	Thick lower lip vermilion	6/7	OMIM:613804
81620	CDT1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
81620	CDT1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:2554
81620	CDT1	HP:0000160	Narrow mouth	HP:0040281	ORPHA:2554
81620	CDT1	HP:0000160	Narrow mouth	2/7	OMIM:613804
81620	CDT1	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:2554
81620	CDT1	HP:0000175	Cleft palate	2/7	OMIM:615777
81620	CDT1	HP:0000175	Cleft palate	HP:0040283	ORPHA:2554
81620	CDT1	HP:0002705	High, narrow palate	HP:0040282	ORPHA:2554
81620	CDT1	HP:0002750	Delayed skeletal maturation	2/3	OMIM:613804
81620	CDT1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2554
81620	CDT1	HP:0002098	Respiratory distress	HP:0040282	ORPHA:2554
81620	CDT1	HP:0002097	Emphysema	4/7	OMIM:613804
81620	CDT1	HP:0002094	Dyspnea	HP:0040282	ORPHA:2554
81620	CDT1	HP:0003388	Easy fatigability	36/76	OMIM:131300
81620	CDT1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
81620	CDT1	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:2554
81620	CDT1	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:2554
81620	CDT1	HP:0003577	Congenital onset	7/7	OMIM:613804
81620	CDT1	HP:0003561	Birth length less than 3rd percentile	3/5	OMIM:613804
81620	CDT1	HP:0100783	Breast aplasia	HP:0040283	ORPHA:2554
81620	CDT1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:2554
81620	CDT1	HP:0011968	Feeding difficulties	2/4	OMIM:613804
81620	CDT1	HP:0003510	Severe short stature	7/7	OMIM:615777
81620	CDT1	HP:0003510	Severe short stature	HP:0040281	ORPHA:2554
81620	CDT1	HP:0002315	Headache	-	OMIM:131300
81620	CDT1	HP:0004976	Knee dislocation	6/7	OMIM:615777
81620	CDT1	HP:0009803	Short phalanx of finger	-	OMIM:615777
81620	CDT1	HP:0009763	Limb pain	63/92	OMIM:131300
81620	CDT1	HP:0003621	Juvenile onset	-	OMIM:131300
81620	CDT1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
81620	CDT1	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:2554
81620	CDT1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
81620	CDT1	HP:6001056	Out-toeing	-	OMIM:131300
81620	CDT1	HP:0000651	Diplopia	-	OMIM:131300
81620	CDT1	HP:0001956	Truncal obesity	2/7	OMIM:615777
81620	CDT1	HP:0001903	Anemia	HP:0040283	OMIM:131300
81620	CDT1	HP:0010049	Short metacarpal	-	OMIM:615777
81620	CDT1	HP:0000678	Dental crowding	-	OMIM:615777
81620	CDT1	HP:0000670	Carious teeth	-	OMIM:131300
81620	CDT1	HP:0011304	Broad thumb	2/7	OMIM:615777
81620	CDT1	HP:0000668	Hypodontia	-	OMIM:615777
81620	CDT1	HP:0000664	Synophrys	-	OMIM:615777
81620	CDT1	HP:0004322	Short stature	5/7	OMIM:613804
81620	CDT1	HP:0004396	Poor appetite	-	OMIM:131300
81620	CDT1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
81620	CDT1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
81620	CDT1	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:2554
81620	CDT1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
81620	CDT1	HP:0003026	Short long bone	7/7	OMIM:615777
81620	CDT1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
81620	CDT1	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:2554
81620	CDT1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
81620	CDT1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
81620	CDT1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
81620	CDT1	HP:0000750	Delayed speech and language development	-	OMIM:615777
81620	CDT1	HP:0011461	Fetal onset	7/7	OMIM:615777
81620	CDT1	HP:0000774	Narrow chest	2/7	OMIM:615777
81620	CDT1	HP:0003100	Slender long bone	HP:0040281	ORPHA:2554
81620	CDT1	HP:0003100	Slender long bone	4/6	OMIM:613804
81620	CDT1	HP:0000926	Platyspondyly	1/7	OMIM:615777
81620	CDT1	HP:0003187	Breast hypoplasia	-	OMIM:613804
81620	CDT1	HP:0003180	Flat acetabular roof	-	OMIM:615777
81620	CDT1	HP:0004482	Relative macrocephaly	-	OMIM:615777
81620	CDT1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
81620	CDT1	HP:0000823	Delayed puberty	-	OMIM:131300
81620	CDT1	HP:0000895	Lateral clavicle hook	-	OMIM:613804
81620	CDT1	HP:0000894	Short clavicles	-	OMIM:615777
81620	CDT1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
81620	CDT1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
81620	CDT1	HP:0000286	Epicanthus	1/7	OMIM:615777
81620	CDT1	HP:0000280	Coarse facial features	2/7	OMIM:615777
81620	CDT1	HP:0000278	Retrognathia	HP:0040281	ORPHA:2554
81620	CDT1	HP:0006443	Patellar aplasia	HP:0040282	ORPHA:2554
81620	CDT1	HP:0006443	Patellar aplasia	7/7	OMIM:613804
81620	CDT1	HP:0002816	Genu recurvatum	2/4	OMIM:613804
81620	CDT1	HP:0002827	Hip dislocation	3/7	OMIM:615777
81620	CDT1	HP:0000252	Microcephaly	2/7	OMIM:613804
81620	CDT1	HP:0000252	Microcephaly	HP:0040281	ORPHA:2554
81620	CDT1	HP:0000252	Microcephaly	-	OMIM:615777
81620	CDT1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:2554
81620	CDT1	HP:0002857	Genu valgum	-	OMIM:131300
81620	CDT1	HP:0001533	Slender build	-	OMIM:131300
81620	CDT1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2554
81620	CDT1	HP:0001508	Failure to thrive	-	OMIM:613804
81620	CDT1	HP:0001511	Intrauterine growth retardation	-	OMIM:613804
81620	CDT1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
81620	CDT1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2554
81620	CDT1	HP:0001510	Growth delay	HP:0040281	ORPHA:2554
81620	CDT1	HP:0007807	Optic nerve compression	-	OMIM:131300
81620	CDT1	HP:0012368	Flat face	7/7	OMIM:615777
81620	CDT1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
81620	CDT1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2554
81620	CDT1	HP:0000365	Hearing impairment	10/67	OMIM:131300
81620	CDT1	HP:0000356	Abnormality of the outer ear	HP:0040281	ORPHA:2554
81620	CDT1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2554
81620	CDT1	HP:0000369	Low-set ears	HP:0040282	ORPHA:2554
81620	CDT1	HP:0000369	Low-set ears	7/7	OMIM:613804
81620	CDT1	HP:0000343	Long philtrum	1/7	OMIM:615777
81620	CDT1	HP:0011001	Increased bone mineral density	-	OMIM:131300
81620	CDT1	HP:0000347	Micrognathia	HP:0040281	ORPHA:2554
81620	CDT1	HP:0000347	Micrognathia	16/17	OMIM:613804
81620	CDT1	HP:0000311	Round face	2/7	OMIM:615777
81620	CDT1	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:2554
81620	CDT1	HP:0000327	Hypoplasia of the maxilla	3/7	OMIM:613804
81620	CDT1	HP:0002970	Genu varum	-	OMIM:615777
81620	CDT1	HP:0000303	Mandibular prognathia	-	OMIM:131300
81620	CDT1	HP:0006660	Aplastic clavicle	HP:0040282	ORPHA:2554
81620	CDT1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
81620	CDT1	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:2554
81620	CDT1	HP:0000470	Short neck	1/7	OMIM:615777
81620	CDT1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
81620	CDT1	HP:0001763	Pes planus	1/7	OMIM:615777
81620	CDT1	HP:0000413	Atresia of the external auditory canal	HP:0040281	ORPHA:2554
81620	CDT1	HP:0011267	Microtia, third degree	HP:0040281	ORPHA:2554
81620	CDT1	HP:0001840	Metatarsus adductus	-	OMIM:615777
81620	CDT1	HP:0000520	Proptosis	2/4	OMIM:131300
81620	CDT1	HP:0000520	Proptosis	7/7	OMIM:615777
81620	CDT1	HP:0000592	Blue sclerae	2/7	OMIM:615777
81620	CDT1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
81620	CDT1	HP:0012514	Lower limb pain	4/4	OMIM:131300
81622	UNC93B1	HP:0025143	Chills	HP:0040283	ORPHA:1930
81622	UNC93B1	HP:0001250	Seizure	HP:0040282	ORPHA:1930
81622	UNC93B1	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:1930
81622	UNC93B1	HP:0001259	Coma	HP:0040283	ORPHA:1930
81622	UNC93B1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:1930
81622	UNC93B1	HP:0031179	Nuchal rigidity	HP:0040282	ORPHA:1930
81622	UNC93B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:610551
81622	UNC93B1	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:1930
81622	UNC93B1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:1930
81622	UNC93B1	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:1930
81622	UNC93B1	HP:0002133	Status epilepticus	HP:0040283	ORPHA:1930
81622	UNC93B1	HP:0002181	Cerebral edema	HP:0040283	ORPHA:1930
81622	UNC93B1	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:1930
81622	UNC93B1	HP:0011897	Increased total neutrophil count	HP:0040282	ORPHA:1930
81622	UNC93B1	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040282	ORPHA:1930
81622	UNC93B1	HP:0200149	CSF lymphocytic pleiocytosis	HP:0040281	ORPHA:1930
81622	UNC93B1	HP:0011972	Hypoglycorrhachia	HP:0040283	ORPHA:1930
81622	UNC93B1	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:1930
81622	UNC93B1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1930
81622	UNC93B1	HP:0002349	Focal aware seizure	HP:0040283	ORPHA:1930
81622	UNC93B1	HP:0002315	Headache	HP:0040282	ORPHA:1930
81622	UNC93B1	HP:0007185	Loss of consciousness	HP:0040282	ORPHA:1930
81622	UNC93B1	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:1930
81622	UNC93B1	HP:0001945	Fever	HP:0040282	ORPHA:1930
81622	UNC93B1	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:1930
81622	UNC93B1	HP:0004372	Reduced consciousness	HP:0040281	ORPHA:1930
81622	UNC93B1	HP:0012378	Fatigue	HP:0040282	ORPHA:1930
81622	UNC93B1	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:1930
81622	UNC93B1	HP:0002902	Hyponatremia	HP:0040282	ORPHA:1930
81622	UNC93B1	HP:0012302	Herpes simplex encephalitis	-	OMIM:610551
81622	UNC93B1	HP:0005353	Recurrent herpes	-	OMIM:610551
81622	UNC93B1	HP:0012443	Abnormal brain morphology	HP:0040281	ORPHA:1930
81622	UNC93B1	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040283	ORPHA:1930
81624	DIAPH3	HP:0000006	Autosomal dominant inheritance	-	OMIM:609129
81624	DIAPH3	HP:0008529	Absence of acoustic reflex	-	OMIM:609129
81624	DIAPH3	HP:0003621	Juvenile onset	-	OMIM:609129
81624	DIAPH3	HP:0001963	Abnormal speech discrimination	-	OMIM:609129
81624	DIAPH3	HP:0006958	Abnormal auditory evoked potentials	-	OMIM:609129
81624	DIAPH3	HP:0011462	Young adult onset	-	OMIM:609129
81624	DIAPH3	HP:0000407	Sensorineural hearing impairment	-	OMIM:609129
81689	ISCA1	HP:0002415	Leukodystrophy	2/2	OMIM:617613
81689	ISCA1	HP:0001250	Seizure	2/2	OMIM:617613
81689	ISCA1	HP:0001263	Global developmental delay	2/2	OMIM:617613
81689	ISCA1	HP:0001257	Spasticity	2/2	OMIM:617613
81689	ISCA1	HP:0001347	Hyperreflexia	2/2	OMIM:617613
81689	ISCA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617613
81689	ISCA1	HP:0001302	Pachygyria	2/2	OMIM:617613
81689	ISCA1	HP:0002151	Increased circulating lactate concentration	-	OMIM:617613
81689	ISCA1	HP:0002119	Ventriculomegaly	2/2	OMIM:617613
81689	ISCA1	HP:0003593	Infantile onset	2/2	OMIM:617613
81689	ISCA1	HP:0011968	Feeding difficulties	2/2	OMIM:617613
81689	ISCA1	HP:0002376	Developmental regression	-	OMIM:617613
81689	ISCA1	HP:0003676	Progressive	-	OMIM:617613
81689	ISCA1	HP:0003236	Elevated circulating creatine kinase concentration	1/2	OMIM:617613
81689	ISCA1	HP:0000252	Microcephaly	HP:0040284	OMIM:617613
81689	ISCA1	HP:0001510	Growth delay	-	OMIM:617613
81689	ISCA1	HP:0000486	Strabismus	1/2	OMIM:617613
81689	ISCA1	HP:0012448	Delayed myelination	-	OMIM:617613
81689	ISCA1	HP:0000580	Pigmentary retinopathy	HP:0040284	OMIM:617613
81693	AMN	HP:0410216	Abnormal blood 5-methyltetrahydrofolate level	HP:0040280	ORPHA:35858
81693	AMN	HP:0001252	Hypotonia	HP:0040283	ORPHA:35858
81693	AMN	HP:0000083	Renal insufficiency	0/8	OMIM:618882
81693	AMN	HP:0000093	Proteinuria	HP:0040282	ORPHA:35858
81693	AMN	HP:0000093	Proteinuria	7/8	OMIM:618882
81693	AMN	HP:0000010	Recurrent urinary tract infections	1/8	OMIM:618882
81693	AMN	HP:0000007	Autosomal recessive inheritance	-	OMIM:618882
81693	AMN	HP:0032566	Oval macrocytosis	HP:0040282	ORPHA:35858
81693	AMN	HP:0002721	Immunodeficiency	HP:0040284	ORPHA:35858
81693	AMN	HP:0002019	Constipation	HP:0040283	ORPHA:35858
81693	AMN	HP:0002014	Diarrhea	2/8	OMIM:618882
81693	AMN	HP:0002013	Vomiting	HP:0040283	ORPHA:35858
81693	AMN	HP:0100502	Decreased circulating vitamin B12 concentration	HP:0040280	ORPHA:35858
81693	AMN	HP:0100502	Decreased circulating vitamin B12 concentration	8/8	OMIM:618882
81693	AMN	HP:0200118	Malabsorption of Vitamin B12	HP:0040280	ORPHA:35858
81693	AMN	HP:0020061	Abnormal hemoglobin concentration	HP:0040282	ORPHA:35858
81693	AMN	HP:0004823	Anisopoikilocytosis	HP:0040282	ORPHA:35858
81693	AMN	HP:0004821	Hypersegmentation of neutrophil nuclei	HP:0040281	ORPHA:35858
81693	AMN	HP:0002376	Developmental regression	HP:0040283	ORPHA:35858
81693	AMN	HP:0008454	Lumbar kyphosis	1/8	OMIM:618882
81693	AMN	HP:0001972	Macrocytic anemia	HP:0040281	ORPHA:35858
81693	AMN	HP:0001923	Reticulocytosis	HP:0040282	ORPHA:35858
81693	AMN	HP:0001903	Anemia	5/8	OMIM:618882
81693	AMN	HP:0004396	Poor appetite	HP:0040283	ORPHA:35858
81693	AMN	HP:0031936	Delayed ability to walk	HP:0040283	ORPHA:35858
81693	AMN	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:35858
81693	AMN	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:35858
81693	AMN	HP:0011463	Childhood onset	8/8	OMIM:618882
81693	AMN	HP:0000980	Pallor	HP:0040282	ORPHA:35858
81693	AMN	HP:0000206	Glossitis	HP:0040283	ORPHA:35858
81693	AMN	HP:0001508	Failure to thrive	HP:0040283	ORPHA:35858
81693	AMN	HP:0001510	Growth delay	1/8	OMIM:618882
81693	AMN	HP:0001649	Tachycardia	HP:0040283	ORPHA:35858
81693	AMN	HP:0030318	Angular cheilitis	HP:0040283	ORPHA:35858
81693	AMN	HP:0001824	Weight loss	HP:0040283	ORPHA:35858
81693	AMN	HP:0012594	Moderate albuminuria	3/8	OMIM:618882
81693	AMN	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:35858
81693	AMN	HP:0001889	Megaloblastic anemia	HP:0040281	ORPHA:35858
81693	AMN	HP:0001889	Megaloblastic anemia	2/8	OMIM:618882
81693	AMN	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:35858
81693	AMN	HP:0001876	Pancytopenia	HP:0040283	ORPHA:35858
81693	AMN	HP:0001875	Decreased total neutrophil count	HP:0040282	ORPHA:35858
81704	DOCK8	HP:0410151	Eosinophilic infiltration of the esophagus	2/11	OMIM:243700
81704	DOCK8	HP:0032218	Decreased proportion of CD4-positive T cells	11/11	OMIM:243700
81704	DOCK8	HP:0100806	Sepsis	23/79	OMIM:243700
81704	DOCK8	HP:0100845	Anaphylactic shock	16/97	OMIM:243700
81704	DOCK8	HP:0410323	Drug allergy	9/97	OMIM:243700
81704	DOCK8	HP:0010976	Decreased total B cell count	HP:0040281	ORPHA:217390
81704	DOCK8	HP:0000007	Autosomal recessive inheritance	-	OMIM:243700
81704	DOCK8	HP:0500093	Food allergy	91/108	OMIM:243700
81704	DOCK8	HP:0031292	Cutaneous abscess	70/84	OMIM:243700
81704	DOCK8	HP:0025419	Pulmonary pneumatocele	4/134	OMIM:243700
81704	DOCK8	HP:0002754	Osteomyelitis	8/79	OMIM:243700
81704	DOCK8	HP:0002718	Recurrent bacterial infections	11/11	OMIM:243700
81704	DOCK8	HP:0030991	Sclerosing cholangitis	7/136	OMIM:243700
81704	DOCK8	HP:0002099	Asthma	58/108	OMIM:243700
81704	DOCK8	HP:0002099	Asthma	HP:0040281	ORPHA:217390
81704	DOCK8	HP:0002090	Pneumonia	HP:0040281	ORPHA:217390
81704	DOCK8	HP:0002138	Subarachnoid hemorrhage	-	OMIM:243700
81704	DOCK8	HP:0002110	Bronchiectasis	57/135	OMIM:243700
81704	DOCK8	HP:0003593	Infantile onset	-	OMIM:243700
81704	DOCK8	HP:0002205	Recurrent respiratory infections	124/136	OMIM:243700
81704	DOCK8	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:217390
81704	DOCK8	HP:0001047	Atopic dermatitis	11/11	OMIM:243700
81704	DOCK8	HP:0001047	Atopic dermatitis	HP:0040281	ORPHA:217390
81704	DOCK8	HP:0200043	Verrucae	HP:0040281	ORPHA:217390
81704	DOCK8	HP:0200042	Skin ulcer	HP:0040281	ORPHA:217390
81704	DOCK8	HP:0032163	Molluscum contagiosum	40/109	OMIM:243700
81704	DOCK8	HP:0032185	Disseminated molluscum contagiosum	4/11	OMIM:243700
81704	DOCK8	HP:0002301	Hemiplegia	-	OMIM:243700
81704	DOCK8	HP:0004429	Recurrent viral infections	11/11	OMIM:243700
81704	DOCK8	HP:0004429	Recurrent viral infections	HP:0040281	ORPHA:217390
81704	DOCK8	HP:0003193	Allergic rhinitis	22/97	OMIM:243700
81704	DOCK8	HP:0003237	Increased circulating IgG concentration	6/11	OMIM:243700
81704	DOCK8	HP:0003212	Increased circulating IgE concentration	10/11	OMIM:243700
81704	DOCK8	HP:0003212	Increased circulating IgE concentration	HP:0040281	ORPHA:217390
81704	DOCK8	HP:0040218	Reduced total natural killer cell count	6/10	OMIM:243700
81704	DOCK8	HP:0000964	Eczematoid dermatitis	144/146	OMIM:243700
81704	DOCK8	HP:0012203	Onychomycosis	HP:0040281	ORPHA:217390
81704	DOCK8	HP:0002860	Squamous cell carcinoma	3/11	OMIM:243700
81704	DOCK8	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:217390
81704	DOCK8	HP:0001508	Failure to thrive	67/136	OMIM:243700
81704	DOCK8	HP:0002850	Decreased circulating total IgM	11/11	OMIM:243700
81704	DOCK8	HP:0001510	Growth delay	2/11	OMIM:243700
81704	DOCK8	HP:0002841	Recurrent fungal infections	-	OMIM:243700
81704	DOCK8	HP:0000389	Chronic otitis media	HP:0040281	ORPHA:217390
81704	DOCK8	HP:0006532	Recurrent pneumonia	8/11	OMIM:243700
81704	DOCK8	HP:0002960	Autoimmunity	17/136	OMIM:243700
81704	DOCK8	HP:0005318	Cerebral vasculitis	-	OMIM:243700
81704	DOCK8	HP:0000403	Recurrent otitis media	10/11	OMIM:243700
81704	DOCK8	HP:0011108	Recurrent sinusitis	8/11	OMIM:243700
81704	DOCK8	HP:0011108	Recurrent sinusitis	HP:0040281	ORPHA:217390
81704	DOCK8	HP:0005406	Recurrent bacterial skin infections	HP:0040281	ORPHA:217390
81704	DOCK8	HP:0005425	Recurrent sinopulmonary infections	-	OMIM:243700
81704	DOCK8	HP:0005403	Decreased total T cell count	HP:0040281	ORPHA:217390
81704	DOCK8	HP:0005401	Recurrent candida infections	HP:0040281	ORPHA:217390
81704	DOCK8	HP:0030417	Squamous cell carcinoma of the vulva	HP:0040283	ORPHA:217390
81704	DOCK8	HP:0006763	Anal canal squamous carcinoma	HP:0040283	ORPHA:217390
81704	DOCK8	HP:0031691	Severe viral infection	18/136	OMIM:243700
81704	DOCK8	HP:0001880	Increased total eosinophil count	10/11	OMIM:243700
81788	NUAK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619452
81788	NUAK2	HP:0000161	Median cleft upper lip	1/2	OMIM:619452
81788	NUAK2	HP:0011803	Bifid nose	1/2	OMIM:619452
81788	NUAK2	HP:0003577	Congenital onset	3/3	OMIM:619452
81788	NUAK2	HP:0002323	Anencephaly	3/3	OMIM:619452
81788	NUAK2	HP:0009099	Median cleft palate	1/2	OMIM:619452
81788	NUAK2	HP:0012745	Short palpebral fissure	1/2	OMIM:619452
81788	NUAK2	HP:0010289	Cleft maxillary alveolar ridge	1/2	OMIM:619452
81788	NUAK2	HP:0000528	Anophthalmia	1/2	OMIM:619452
81790	RNF170	HP:0001152	Saccadic smooth pursuit	4/4	OMIM:619686
81790	RNF170	HP:0002495	Impaired vibratory sensation	1/9	OMIM:619686
81790	RNF170	HP:0010871	Sensory ataxia	2/2	OMIM:608984
81790	RNF170	HP:0002403	Positive Romberg sign	1/2	OMIM:608984
81790	RNF170	HP:0003700	Generalized amyotrophy	1/9	OMIM:619686
81790	RNF170	HP:0001272	Cerebellar atrophy	2/7	OMIM:619686
81790	RNF170	HP:0001270	Motor delay	5/9	OMIM:619686
81790	RNF170	HP:0001288	Gait disturbance	1/2	OMIM:608984
81790	RNF170	HP:0001284	Areflexia	-	OMIM:608984
81790	RNF170	HP:0001265	Hyporeflexia	2/2	OMIM:608984
81790	RNF170	HP:0001260	Dysarthria	6/9	OMIM:619686
81790	RNF170	HP:0001260	Dysarthria	1/2	OMIM:608984
81790	RNF170	HP:0001258	Spastic paraplegia	-	OMIM:619686
81790	RNF170	HP:0007340	Lower limb muscle weakness	7/9	OMIM:619686
81790	RNF170	HP:0000020	Urinary incontinence	2/9	OMIM:619686
81790	RNF170	HP:0001348	Brisk reflexes	9/9	OMIM:619686
81790	RNF170	HP:0000007	Autosomal recessive inheritance	-	OMIM:619686
81790	RNF170	HP:0000006	Autosomal dominant inheritance	-	OMIM:608984
81790	RNF170	HP:0001317	Abnormal cerebellum morphology	0/1	OMIM:608984
81790	RNF170	HP:0007670	Abnormal vestibulo-ocular reflex	1/2	OMIM:608984
81790	RNF170	HP:0002015	Dysphagia	2/9	OMIM:619686
81790	RNF170	HP:0002066	Gait ataxia	2/2	OMIM:608984
81790	RNF170	HP:0002061	Lower limb spasticity	9/9	OMIM:619686
81790	RNF170	HP:0003477	Peripheral axonal neuropathy	2/7	OMIM:619686
81790	RNF170	HP:0003487	Babinski sign	8/9	OMIM:619686
81790	RNF170	HP:0003487	Babinski sign	0/1	OMIM:608984
81790	RNF170	HP:0003409	Distal sensory impairment of all modalities	2/2	OMIM:608984
81790	RNF170	HP:0003596	Middle age onset	2/2	OMIM:608984
81790	RNF170	HP:0007078	Decreased amplitude of sensory action potentials	1/2	OMIM:608984
81790	RNF170	HP:0002359	Frequent falls	1/2	OMIM:608984
81790	RNF170	HP:0010830	Impaired tactile sensation	1/9	OMIM:619686
81790	RNF170	HP:0010831	Impaired proprioception	0/9	OMIM:619686
81790	RNF170	HP:0010829	Impaired temperature sensation	1/9	OMIM:619686
81790	RNF170	HP:0006858	Impaired distal proprioception	1/2	OMIM:608984
81790	RNF170	HP:0006886	Impaired distal vibration sensation	1/2	OMIM:608984
81790	RNF170	HP:0000648	Optic atrophy	7/7	OMIM:619686
81790	RNF170	HP:0006986	Upper limb spasticity	4/9	OMIM:619686
81790	RNF170	HP:0006962	Gait instability, worse in the dark	-	OMIM:608984
81790	RNF170	HP:0011463	Childhood onset	9/9	OMIM:619686
81790	RNF170	HP:0000473	Torticollis	1/9	OMIM:619686
81790	RNF170	HP:0012534	Dysesthesia	1/2	OMIM:608984
81794	ADAMTS10	HP:0001169	Broad palm	-	OMIM:277600
81794	ADAMTS10	HP:0001156	Brachydactyly	6/6	OMIM:277600
81794	ADAMTS10	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3449
81794	ADAMTS10	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
81794	ADAMTS10	HP:0001293	Cranial nerve compression	-	OMIM:131300
81794	ADAMTS10	HP:0001256	Intellectual disability, mild	11%	OMIM:277600
81794	ADAMTS10	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:3449
81794	ADAMTS10	HP:0001252	Hypotonia	2/7	OMIM:615777
81794	ADAMTS10	HP:0001249	Intellectual disability	5/7	OMIM:615777
81794	ADAMTS10	HP:0001263	Global developmental delay	-	OMIM:615777
81794	ADAMTS10	HP:0001230	Broad metacarpals	-	OMIM:277600
81794	ADAMTS10	HP:0002515	Waddling gait	54/102	OMIM:131300
81794	ADAMTS10	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:3449
81794	ADAMTS10	HP:0001387	Joint stiffness	6/6	OMIM:277600
81794	ADAMTS10	HP:0001387	Joint stiffness	HP:0040283	ORPHA:3449
81794	ADAMTS10	HP:0001382	Joint hypermobility	-	OMIM:615777
81794	ADAMTS10	HP:0002682	Broad skull	-	OMIM:277600
81794	ADAMTS10	HP:0002694	Sclerosis of skull base	-	OMIM:131300
81794	ADAMTS10	HP:0008897	Postnatal growth retardation	-	OMIM:615777
81794	ADAMTS10	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
81794	ADAMTS10	HP:0001324	Muscle weakness	40/96	OMIM:131300
81794	ADAMTS10	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
81794	ADAMTS10	HP:0000007	Autosomal recessive inheritance	-	OMIM:277600
81794	ADAMTS10	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
81794	ADAMTS10	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
81794	ADAMTS10	HP:0002650	Scoliosis	-	OMIM:277600
81794	ADAMTS10	HP:0002650	Scoliosis	12/14	OMIM:131300
81794	ADAMTS10	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
81794	ADAMTS10	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
81794	ADAMTS10	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
81794	ADAMTS10	HP:0000189	Narrow palate	-	OMIM:277600
81794	ADAMTS10	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
81794	ADAMTS10	HP:0000175	Cleft palate	2/7	OMIM:615777
81794	ADAMTS10	HP:0002753	Thin bony cortex	-	OMIM:277600
81794	ADAMTS10	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:3449
81794	ADAMTS10	HP:0030961	Microspherophakia	HP:0040281	ORPHA:3449
81794	ADAMTS10	HP:0030961	Microspherophakia	6/6	OMIM:277600
81794	ADAMTS10	HP:0003388	Easy fatigability	36/76	OMIM:131300
81794	ADAMTS10	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
81794	ADAMTS10	HP:0003416	Spinal canal stenosis	-	OMIM:277600
81794	ADAMTS10	HP:0003510	Severe short stature	7/7	OMIM:615777
81794	ADAMTS10	HP:0003508	Proportionate short stature	-	OMIM:277600
81794	ADAMTS10	HP:0002315	Headache	-	OMIM:131300
81794	ADAMTS10	HP:0004976	Knee dislocation	6/7	OMIM:615777
81794	ADAMTS10	HP:0001072	Thickened skin	HP:0040282	ORPHA:3449
81794	ADAMTS10	HP:0001072	Thickened skin	-	OMIM:277600
81794	ADAMTS10	HP:0009803	Short phalanx of finger	-	OMIM:615777
81794	ADAMTS10	HP:0001083	Ectopia lentis	HP:0040282	ORPHA:3449
81794	ADAMTS10	HP:0001083	Ectopia lentis	6/6	OMIM:277600
81794	ADAMTS10	HP:0009778	Short thumb	HP:0040281	ORPHA:3449
81794	ADAMTS10	HP:0009763	Limb pain	63/92	OMIM:131300
81794	ADAMTS10	HP:0009768	Broad phalanges of the hand	-	OMIM:277600
81794	ADAMTS10	HP:0003621	Juvenile onset	-	OMIM:131300
81794	ADAMTS10	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
81794	ADAMTS10	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
81794	ADAMTS10	HP:6001056	Out-toeing	-	OMIM:131300
81794	ADAMTS10	HP:0000651	Diplopia	-	OMIM:131300
81794	ADAMTS10	HP:0000618	Blindness	-	OMIM:277600
81794	ADAMTS10	HP:0001956	Truncal obesity	2/7	OMIM:615777
81794	ADAMTS10	HP:0001903	Anemia	HP:0040283	OMIM:131300
81794	ADAMTS10	HP:0010049	Short metacarpal	-	OMIM:615777
81794	ADAMTS10	HP:0000678	Dental crowding	-	OMIM:615777
81794	ADAMTS10	HP:0000692	Tooth malposition	-	OMIM:277600
81794	ADAMTS10	HP:0000670	Carious teeth	-	OMIM:131300
81794	ADAMTS10	HP:0011304	Broad thumb	2/7	OMIM:615777
81794	ADAMTS10	HP:0000668	Hypodontia	-	OMIM:615777
81794	ADAMTS10	HP:0000664	Synophrys	-	OMIM:615777
81794	ADAMTS10	HP:0004322	Short stature	6/6	OMIM:277600
81794	ADAMTS10	HP:0004322	Short stature	HP:0040281	ORPHA:3449
81794	ADAMTS10	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:3449
81794	ADAMTS10	HP:0004396	Poor appetite	-	OMIM:131300
81794	ADAMTS10	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
81794	ADAMTS10	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
81794	ADAMTS10	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
81794	ADAMTS10	HP:0003026	Short long bone	7/7	OMIM:615777
81794	ADAMTS10	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
81794	ADAMTS10	HP:0000767	Pectus excavatum	2/7	OMIM:615777
81794	ADAMTS10	HP:0000768	Pectus carinatum	1/7	OMIM:615777
81794	ADAMTS10	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
81794	ADAMTS10	HP:0000750	Delayed speech and language development	-	OMIM:615777
81794	ADAMTS10	HP:0011461	Fetal onset	7/7	OMIM:615777
81794	ADAMTS10	HP:0000774	Narrow chest	2/7	OMIM:615777
81794	ADAMTS10	HP:0000926	Platyspondyly	1/7	OMIM:615777
81794	ADAMTS10	HP:0003180	Flat acetabular roof	-	OMIM:615777
81794	ADAMTS10	HP:0004482	Relative macrocephaly	-	OMIM:615777
81794	ADAMTS10	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
81794	ADAMTS10	HP:0000885	Broad ribs	-	OMIM:277600
81794	ADAMTS10	HP:0000823	Delayed puberty	-	OMIM:131300
81794	ADAMTS10	HP:0000894	Short clavicles	-	OMIM:615777
81794	ADAMTS10	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
81794	ADAMTS10	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
81794	ADAMTS10	HP:0000286	Epicanthus	1/7	OMIM:615777
81794	ADAMTS10	HP:0000280	Coarse facial features	2/7	OMIM:615777
81794	ADAMTS10	HP:0002827	Hip dislocation	3/7	OMIM:615777
81794	ADAMTS10	HP:0000252	Microcephaly	-	OMIM:615777
81794	ADAMTS10	HP:0000248	Brachycephaly	-	OMIM:277600
81794	ADAMTS10	HP:0002857	Genu valgum	-	OMIM:131300
81794	ADAMTS10	HP:0001533	Slender build	-	OMIM:131300
81794	ADAMTS10	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
81794	ADAMTS10	HP:0007807	Optic nerve compression	-	OMIM:131300
81794	ADAMTS10	HP:0012368	Flat face	7/7	OMIM:615777
81794	ADAMTS10	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
81794	ADAMTS10	HP:0002938	Lumbar hyperlordosis	-	OMIM:277600
81794	ADAMTS10	HP:0005184	Prolonged QTc interval	HP:0040283	ORPHA:3449
81794	ADAMTS10	HP:0006482	Abnormal dental morphology	-	OMIM:277600
81794	ADAMTS10	HP:0000365	Hearing impairment	10/67	OMIM:131300
81794	ADAMTS10	HP:0011003	High myopia	6/6	OMIM:277600
81794	ADAMTS10	HP:0011003	High myopia	HP:0040281	ORPHA:3449
81794	ADAMTS10	HP:0000343	Long philtrum	1/7	OMIM:615777
81794	ADAMTS10	HP:0011001	Increased bone mineral density	-	OMIM:131300
81794	ADAMTS10	HP:0001650	Aortic valve stenosis	2/6	OMIM:277600
81794	ADAMTS10	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:3449
81794	ADAMTS10	HP:0001643	Patent ductus arteriosus	-	OMIM:277600
81794	ADAMTS10	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:3449
81794	ADAMTS10	HP:0000311	Round face	2/7	OMIM:615777
81794	ADAMTS10	HP:0001642	Pulmonic stenosis	2/6	OMIM:277600
81794	ADAMTS10	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:3449
81794	ADAMTS10	HP:0000327	Hypoplasia of the maxilla	-	OMIM:277600
81794	ADAMTS10	HP:0001653	Mitral regurgitation	-	OMIM:277600
81794	ADAMTS10	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:3449
81794	ADAMTS10	HP:0001629	Ventricular septal defect	-	OMIM:277600
81794	ADAMTS10	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:3449
81794	ADAMTS10	HP:0002970	Genu varum	-	OMIM:615777
81794	ADAMTS10	HP:0000303	Mandibular prognathia	-	OMIM:131300
81794	ADAMTS10	HP:0005280	Depressed nasal bridge	-	OMIM:277600
81794	ADAMTS10	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
81794	ADAMTS10	HP:0000470	Short neck	1/7	OMIM:615777
81794	ADAMTS10	HP:0001769	Broad foot	HP:0040283	OMIM:615777
81794	ADAMTS10	HP:0001763	Pes planus	1/7	OMIM:615777
81794	ADAMTS10	HP:0001783	Broad metatarsal	-	OMIM:277600
81794	ADAMTS10	HP:0000518	Cataract	-	OMIM:277600
81794	ADAMTS10	HP:0000518	Cataract	HP:0040283	ORPHA:3449
81794	ADAMTS10	HP:0001840	Metatarsus adductus	-	OMIM:615777
81794	ADAMTS10	HP:0000520	Proptosis	2/4	OMIM:131300
81794	ADAMTS10	HP:0000520	Proptosis	7/7	OMIM:615777
81794	ADAMTS10	HP:0000501	Glaucoma	6/6	OMIM:277600
81794	ADAMTS10	HP:0000501	Glaucoma	HP:0040281	ORPHA:3449
81794	ADAMTS10	HP:0000594	Shallow anterior chamber	-	OMIM:277600
81794	ADAMTS10	HP:0000592	Blue sclerae	2/7	OMIM:615777
81794	ADAMTS10	HP:0000586	Shallow orbits	-	OMIM:277600
81794	ADAMTS10	HP:0000572	Visual loss	HP:0040283	ORPHA:3449
81794	ADAMTS10	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
81794	ADAMTS10	HP:0012514	Lower limb pain	4/4	OMIM:131300
81796	SLCO5A1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
81796	SLCO5A1	HP:0001293	Cranial nerve compression	-	OMIM:131300
81796	SLCO5A1	HP:0001252	Hypotonia	2/7	OMIM:615777
81796	SLCO5A1	HP:0001249	Intellectual disability	5/7	OMIM:615777
81796	SLCO5A1	HP:0001263	Global developmental delay	-	OMIM:615777
81796	SLCO5A1	HP:0002515	Waddling gait	54/102	OMIM:131300
81796	SLCO5A1	HP:0001382	Joint hypermobility	-	OMIM:615777
81796	SLCO5A1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
81796	SLCO5A1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
81796	SLCO5A1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
81796	SLCO5A1	HP:0001324	Muscle weakness	40/96	OMIM:131300
81796	SLCO5A1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
81796	SLCO5A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
81796	SLCO5A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
81796	SLCO5A1	HP:0002650	Scoliosis	12/14	OMIM:131300
81796	SLCO5A1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
81796	SLCO5A1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
81796	SLCO5A1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
81796	SLCO5A1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
81796	SLCO5A1	HP:0000175	Cleft palate	2/7	OMIM:615777
81796	SLCO5A1	HP:0003388	Easy fatigability	36/76	OMIM:131300
81796	SLCO5A1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
81796	SLCO5A1	HP:0003510	Severe short stature	7/7	OMIM:615777
81796	SLCO5A1	HP:0002315	Headache	-	OMIM:131300
81796	SLCO5A1	HP:0004976	Knee dislocation	6/7	OMIM:615777
81796	SLCO5A1	HP:0009803	Short phalanx of finger	-	OMIM:615777
81796	SLCO5A1	HP:0009763	Limb pain	63/92	OMIM:131300
81796	SLCO5A1	HP:0003621	Juvenile onset	-	OMIM:131300
81796	SLCO5A1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
81796	SLCO5A1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
81796	SLCO5A1	HP:6001056	Out-toeing	-	OMIM:131300
81796	SLCO5A1	HP:0000651	Diplopia	-	OMIM:131300
81796	SLCO5A1	HP:0001956	Truncal obesity	2/7	OMIM:615777
81796	SLCO5A1	HP:0001903	Anemia	HP:0040283	OMIM:131300
81796	SLCO5A1	HP:0010049	Short metacarpal	-	OMIM:615777
81796	SLCO5A1	HP:0000678	Dental crowding	-	OMIM:615777
81796	SLCO5A1	HP:0000670	Carious teeth	-	OMIM:131300
81796	SLCO5A1	HP:0011304	Broad thumb	2/7	OMIM:615777
81796	SLCO5A1	HP:0000668	Hypodontia	-	OMIM:615777
81796	SLCO5A1	HP:0000664	Synophrys	-	OMIM:615777
81796	SLCO5A1	HP:0004396	Poor appetite	-	OMIM:131300
81796	SLCO5A1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
81796	SLCO5A1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
81796	SLCO5A1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
81796	SLCO5A1	HP:0003026	Short long bone	7/7	OMIM:615777
81796	SLCO5A1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
81796	SLCO5A1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
81796	SLCO5A1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
81796	SLCO5A1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
81796	SLCO5A1	HP:0000750	Delayed speech and language development	-	OMIM:615777
81796	SLCO5A1	HP:0011461	Fetal onset	7/7	OMIM:615777
81796	SLCO5A1	HP:0000774	Narrow chest	2/7	OMIM:615777
81796	SLCO5A1	HP:0000926	Platyspondyly	1/7	OMIM:615777
81796	SLCO5A1	HP:0003180	Flat acetabular roof	-	OMIM:615777
81796	SLCO5A1	HP:0004482	Relative macrocephaly	-	OMIM:615777
81796	SLCO5A1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
81796	SLCO5A1	HP:0000823	Delayed puberty	-	OMIM:131300
81796	SLCO5A1	HP:0000894	Short clavicles	-	OMIM:615777
81796	SLCO5A1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
81796	SLCO5A1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
81796	SLCO5A1	HP:0000286	Epicanthus	1/7	OMIM:615777
81796	SLCO5A1	HP:0000280	Coarse facial features	2/7	OMIM:615777
81796	SLCO5A1	HP:0002827	Hip dislocation	3/7	OMIM:615777
81796	SLCO5A1	HP:0000252	Microcephaly	-	OMIM:615777
81796	SLCO5A1	HP:0002857	Genu valgum	-	OMIM:131300
81796	SLCO5A1	HP:0001533	Slender build	-	OMIM:131300
81796	SLCO5A1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
81796	SLCO5A1	HP:0007807	Optic nerve compression	-	OMIM:131300
81796	SLCO5A1	HP:0012368	Flat face	7/7	OMIM:615777
81796	SLCO5A1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
81796	SLCO5A1	HP:0000365	Hearing impairment	10/67	OMIM:131300
81796	SLCO5A1	HP:0000343	Long philtrum	1/7	OMIM:615777
81796	SLCO5A1	HP:0011001	Increased bone mineral density	-	OMIM:131300
81796	SLCO5A1	HP:0000311	Round face	2/7	OMIM:615777
81796	SLCO5A1	HP:0002970	Genu varum	-	OMIM:615777
81796	SLCO5A1	HP:0000303	Mandibular prognathia	-	OMIM:131300
81796	SLCO5A1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
81796	SLCO5A1	HP:0000470	Short neck	1/7	OMIM:615777
81796	SLCO5A1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
81796	SLCO5A1	HP:0001763	Pes planus	1/7	OMIM:615777
81796	SLCO5A1	HP:0001840	Metatarsus adductus	-	OMIM:615777
81796	SLCO5A1	HP:0000520	Proptosis	2/4	OMIM:131300
81796	SLCO5A1	HP:0000520	Proptosis	7/7	OMIM:615777
81796	SLCO5A1	HP:0000592	Blue sclerae	2/7	OMIM:615777
81796	SLCO5A1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
81796	SLCO5A1	HP:0012514	Lower limb pain	4/4	OMIM:131300
81833	SPACA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620490
81833	SPACA1	HP:0032560	Coiled sperm flagella	1/1	OMIM:620490
81833	SPACA1	HP:0034011	Reduced progressive sperm motility	1/1	OMIM:620490
81833	SPACA1	HP:0011462	Young adult onset	2/2	OMIM:620490
81833	SPACA1	HP:0012869	Acephalic spermatozoa	1/1	OMIM:620490
81833	SPACA1	HP:0003251	Male infertility	2/2	OMIM:620490
81833	SPACA1	HP:0012205	Globozoospermia	1/1	OMIM:620490
81839	VANGL1	HP:0002475	Myelomeningocele	-	OMIM:182940
81839	VANGL1	HP:0002475	Myelomeningocele	1/4	OMIM:600145
81839	VANGL1	HP:0002435	Meningocele	-	OMIM:600145
81839	VANGL1	HP:0020223	Dermal sinus tract	1/4	OMIM:600145
81839	VANGL1	HP:0007293	Anterior sacral meningocele	-	OMIM:600145
81839	VANGL1	HP:0025247	Dermoid cyst	-	OMIM:600145
81839	VANGL1	HP:0001287	Meningitis	-	OMIM:600145
81839	VANGL1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:3027
81839	VANGL1	HP:0000086	Ectopic kidney	HP:0040282	ORPHA:3027
81839	VANGL1	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:3027
81839	VANGL1	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:3027
81839	VANGL1	HP:0000073	Ureteral duplication	HP:0040282	ORPHA:3027
81839	VANGL1	HP:0000069	Abnormality of the ureter	HP:0040282	ORPHA:3027
81839	VANGL1	HP:0012033	Sacral lipoma	-	OMIM:600145
81839	VANGL1	HP:0012032	Lipoma	-	OMIM:182940
81839	VANGL1	HP:0001387	Joint stiffness	HP:0040282	ORPHA:3027
81839	VANGL1	HP:0000020	Urinary incontinence	-	OMIM:182940
81839	VANGL1	HP:0000016	Urinary retention	-	OMIM:600145
81839	VANGL1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:3027
81839	VANGL1	HP:0000011	Neurogenic bladder	-	OMIM:600145
81839	VANGL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:600145
81839	VANGL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:182940
81839	VANGL1	HP:0002650	Scoliosis	HP:0040282	ORPHA:3027
81839	VANGL1	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:3027
81839	VANGL1	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:3027
81839	VANGL1	HP:0002607	Bowel incontinence	HP:0040281	ORPHA:3027
81839	VANGL1	HP:0000104	Renal agenesis	HP:0040282	ORPHA:3027
81839	VANGL1	HP:0002023	Anal atresia	HP:0040282	ORPHA:3027
81839	VANGL1	HP:0002019	Constipation	-	OMIM:600145
81839	VANGL1	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:3027
81839	VANGL1	HP:0100565	Hydromyelia	1/4	OMIM:600145
81839	VANGL1	HP:0002144	Tethered cord	1/4	OMIM:600145
81839	VANGL1	HP:0002139	Arrhinencephaly	HP:0040283	ORPHA:3027
81839	VANGL1	HP:0003418	Back pain	-	OMIM:600145
81839	VANGL1	HP:0011867	Abnormal iliac wing morphology	HP:0040281	ORPHA:3027
81839	VANGL1	HP:0003577	Congenital onset	3/3	OMIM:600145
81839	VANGL1	HP:0100710	Impulsivity	HP:0040281	ORPHA:3027
81839	VANGL1	HP:0001012	Multiple lipomas	-	OMIM:182940
81839	VANGL1	HP:0002323	Anencephaly	-	OMIM:182940
81839	VANGL1	HP:0002315	Headache	-	OMIM:600145
81839	VANGL1	HP:0008517	Aplasia/Hypoplasia of the sacrum	HP:0040281	ORPHA:3027
81839	VANGL1	HP:0009800	Maternal diabetes	HP:0040281	ORPHA:3027
81839	VANGL1	HP:0008482	Asymmetry of spinal facet joints	-	OMIM:182940
81839	VANGL1	HP:0008479	Hypoplastic vertebral bodies	HP:0040281	ORPHA:3027
81839	VANGL1	HP:0009790	Hemisacrum	-	OMIM:600145
81839	VANGL1	HP:0002308	Chiari malformation	HP:0040283	ORPHA:3027
81839	VANGL1	HP:0005640	Abnormal vertebral segmentation and fusion	HP:0040281	ORPHA:3027
81839	VANGL1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:3027
81839	VANGL1	HP:0003199	Decreased muscle mass	HP:0040281	ORPHA:3027
81839	VANGL1	HP:0000921	Missing ribs	HP:0040283	ORPHA:3027
81839	VANGL1	HP:0030708	Myeloschisis	1/4	OMIM:600145
81839	VANGL1	HP:0000822	Hypertension	HP:0040283	ORPHA:3027
81839	VANGL1	HP:0003298	Spina bifida occulta	-	OMIM:182940
81839	VANGL1	HP:0010305	Absence of the sacrum	-	OMIM:600145
81839	VANGL1	HP:0010305	Absence of the sacrum	-	OMIM:182940
81839	VANGL1	HP:0000960	Sacral dimple	-	OMIM:182940
81839	VANGL1	HP:0000238	Hydrocephalus	1/4	OMIM:600145
81839	VANGL1	HP:0000238	Hydrocephalus	-	OMIM:182940
81839	VANGL1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:3027
81839	VANGL1	HP:0005224	Rectal abscess	-	OMIM:600145
81839	VANGL1	HP:0001776	Bilateral talipes equinovarus	1/4	OMIM:600145
81839	VANGL1	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:3027
81846	SBF2	HP:0001178	Ulnar claw	-	OMIM:604563
81846	SBF2	HP:0001171	Split hand	-	OMIM:604563
81846	SBF2	HP:0002460	Distal muscle weakness	4/4	OMIM:604563
81846	SBF2	HP:0007230	Decreased distal sensory nerve action potential	HP:0040281	ORPHA:99956
81846	SBF2	HP:0001270	Motor delay	HP:0040283	ORPHA:99956
81846	SBF2	HP:0001288	Gait disturbance	-	OMIM:604563
81846	SBF2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:99956
81846	SBF2	HP:0001284	Areflexia	-	OMIM:604563
81846	SBF2	HP:0001265	Hyporeflexia	-	OMIM:604563
81846	SBF2	HP:0007340	Lower limb muscle weakness	HP:0040281	ORPHA:99956
81846	SBF2	HP:0002540	Inability to walk	HP:0040283	ORPHA:99956
81846	SBF2	HP:0002522	Areflexia of lower limbs	HP:0040281	ORPHA:99956
81846	SBF2	HP:0012046	Areflexia of upper limbs	HP:0040282	ORPHA:99956
81846	SBF2	HP:0001328	Specific learning disability	HP:0040283	ORPHA:99956
81846	SBF2	HP:0000007	Autosomal recessive inheritance	-	OMIM:604563
81846	SBF2	HP:0001337	Tremor	HP:0040283	ORPHA:99956
81846	SBF2	HP:0002650	Scoliosis	HP:0040282	ORPHA:99956
81846	SBF2	HP:0000183	Tongue muscle weakness	HP:0040283	ORPHA:99956
81846	SBF2	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:99956
81846	SBF2	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040283	ORPHA:99956
81846	SBF2	HP:0008959	Distal upper limb muscle weakness	HP:0040281	ORPHA:99956
81846	SBF2	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:99956
81846	SBF2	HP:0002751	Kyphoscoliosis	-	OMIM:604563
81846	SBF2	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:99956
81846	SBF2	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:99956
81846	SBF2	HP:0003376	Steppage gait	1/4	OMIM:604563
81846	SBF2	HP:0003383	Onion bulb formation	-	OMIM:604563
81846	SBF2	HP:0003380	Decreased number of peripheral myelinated nerve fibers	-	OMIM:604563
81846	SBF2	HP:0003481	Segmental peripheral demyelination/remyelination	-	OMIM:604563
81846	SBF2	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:604563
81846	SBF2	HP:0003401	Paresthesia	HP:0040283	ORPHA:99956
81846	SBF2	HP:0007010	Poor fine motor coordination	HP:0040281	ORPHA:99956
81846	SBF2	HP:0003693	Distal amyotrophy	3/4	OMIM:604563
81846	SBF2	HP:0001026	Penetrating foot ulcers	HP:0040283	ORPHA:99956
81846	SBF2	HP:0001087	Developmental glaucoma	HP:0040283	ORPHA:99956
81846	SBF2	HP:0003621	Juvenile onset	12/14	OMIM:604563
81846	SBF2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:99956
81846	SBF2	HP:0009053	Distal lower limb muscle weakness	HP:0040281	ORPHA:99956
81846	SBF2	HP:0009027	Foot dorsiflexor weakness	-	OMIM:604563
81846	SBF2	HP:0004336	Myelin outfoldings	HP:0040281	ORPHA:99956
81846	SBF2	HP:0000729	Autistic behavior	HP:0040283	ORPHA:99956
81846	SBF2	HP:0011463	Childhood onset	2/4	OMIM:604563
81846	SBF2	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:99956
81846	SBF2	HP:0002936	Distal sensory impairment	-	OMIM:604563
81846	SBF2	HP:0002936	Distal sensory impairment	HP:0040282	ORPHA:99956
81846	SBF2	HP:0001605	Vocal cord paralysis	HP:0040282	ORPHA:99956
81846	SBF2	HP:0001618	Dysphonia	HP:0040282	ORPHA:99956
81846	SBF2	HP:0030319	Weakness of facial musculature	HP:0040283	ORPHA:99956
81846	SBF2	HP:0000407	Sensorineural hearing impairment	-	OMIM:604563
81846	SBF2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:99956
81846	SBF2	HP:0012473	Tongue atrophy	HP:0040283	ORPHA:99956
81846	SBF2	HP:0030237	Hand muscle weakness	HP:0040283	ORPHA:99956
81846	SBF2	HP:0001763	Pes planus	HP:0040283	ORPHA:99956
81846	SBF2	HP:0001765	Hammertoe	-	OMIM:604563
81846	SBF2	HP:0001760	Abnormal foot morphology	HP:0040281	ORPHA:99956
81846	SBF2	HP:0001762	Talipes equinovarus	-	OMIM:604563
81846	SBF2	HP:0001761	Pes cavus	-	OMIM:604563
81846	SBF2	HP:0001761	Pes cavus	HP:0040282	ORPHA:99956
81846	SBF2	HP:0000518	Cataract	HP:0040283	ORPHA:99956
81846	SBF2	HP:0000508	Ptosis	HP:0040283	ORPHA:99956
81846	SBF2	HP:0000501	Glaucoma	-	OMIM:604563
81846	SBF2	HP:0000501	Glaucoma	HP:0040282	ORPHA:99956
81846	SBF2	HP:0000557	Buphthalmos	HP:0040283	ORPHA:99956
81848	SPRY4	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:432
81848	SPRY4	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
81848	SPRY4	HP:0001250	Seizure	HP:0040283	ORPHA:478
81848	SPRY4	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
81848	SPRY4	HP:0001251	Ataxia	HP:0040283	ORPHA:478
81848	SPRY4	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
81848	SPRY4	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:432
81848	SPRY4	HP:0008734	Decreased testicular size	1/1	OMIM:146110
81848	SPRY4	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
81848	SPRY4	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
81848	SPRY4	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:432
81848	SPRY4	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:432
81848	SPRY4	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:615266
81848	SPRY4	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
81848	SPRY4	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
81848	SPRY4	HP:0000054	Micropenis	1/1	OMIM:146110
81848	SPRY4	HP:0000054	Micropenis	HP:0040281	ORPHA:478
81848	SPRY4	HP:0000054	Micropenis	HP:0040281	ORPHA:432
81848	SPRY4	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:432
81848	SPRY4	HP:0000028	Cryptorchidism	-	OMIM:146110
81848	SPRY4	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
81848	SPRY4	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:432
81848	SPRY4	HP:0000027	Azoospermia	HP:0040281	ORPHA:432
81848	SPRY4	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:432
81848	SPRY4	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
81848	SPRY4	HP:0000013	Hypoplasia of the uterus	HP:0040282	ORPHA:432
81848	SPRY4	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
81848	SPRY4	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
81848	SPRY4	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
81848	SPRY4	HP:0001337	Tremor	HP:0040283	ORPHA:478
81848	SPRY4	HP:0000006	Autosomal dominant inheritance	-	OMIM:615266
81848	SPRY4	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
81848	SPRY4	HP:0000164	Abnormality of the dentition	2/14	OMIM:615266
81848	SPRY4	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:432
81848	SPRY4	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
81848	SPRY4	HP:0000175	Cleft palate	HP:0040283	ORPHA:432
81848	SPRY4	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
81848	SPRY4	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:432
81848	SPRY4	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:432
81848	SPRY4	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:432
81848	SPRY4	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
81848	SPRY4	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
81848	SPRY4	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
81848	SPRY4	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:432
81848	SPRY4	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:432
81848	SPRY4	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:432
81848	SPRY4	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
81848	SPRY4	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
81848	SPRY4	HP:0002231	Sparse body hair	HP:0040281	ORPHA:432
81848	SPRY4	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
81848	SPRY4	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:432
81848	SPRY4	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:432
81848	SPRY4	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
81848	SPRY4	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
81848	SPRY4	HP:0003621	Juvenile onset	2/2	OMIM:146110
81848	SPRY4	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
81848	SPRY4	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
81848	SPRY4	HP:0000802	Impotence	HP:0040281	ORPHA:432
81848	SPRY4	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
81848	SPRY4	HP:0000771	Gynecomastia	HP:0040282	ORPHA:432
81848	SPRY4	HP:0000771	Gynecomastia	0/1	OMIM:146110
81848	SPRY4	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
81848	SPRY4	HP:0000739	Anxiety	HP:0040282	ORPHA:432
81848	SPRY4	HP:0000716	Depression	HP:0040282	ORPHA:432
81848	SPRY4	HP:0000789	Infertility	HP:0040283	OMIM:146110
81848	SPRY4	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:432
81848	SPRY4	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
81848	SPRY4	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
81848	SPRY4	HP:0004409	Hyposmia	-	OMIM:615266
81848	SPRY4	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
81848	SPRY4	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
81848	SPRY4	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:432
81848	SPRY4	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
81848	SPRY4	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
81848	SPRY4	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:432
81848	SPRY4	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
81848	SPRY4	HP:0000823	Delayed puberty	HP:0040282	ORPHA:432
81848	SPRY4	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
81848	SPRY4	HP:0000939	Osteoporosis	HP:0040282	ORPHA:432
81848	SPRY4	HP:0000938	Osteopenia	2/14	OMIM:615266
81848	SPRY4	HP:0000938	Osteopenia	HP:0040282	ORPHA:432
81848	SPRY4	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:432
81848	SPRY4	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
81848	SPRY4	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
81848	SPRY4	HP:0030019	Increased female libido	HP:0040281	ORPHA:432
81848	SPRY4	HP:0001513	Obesity	HP:0040283	ORPHA:478
81848	SPRY4	HP:0012385	Camptodactyly	HP:0040283	ORPHA:432
81848	SPRY4	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:432
81848	SPRY4	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
81848	SPRY4	HP:0000365	Hearing impairment	3/14	OMIM:615266
81848	SPRY4	HP:0000316	Hypertelorism	HP:0040283	ORPHA:432
81848	SPRY4	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:432
81848	SPRY4	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
81848	SPRY4	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:432
81848	SPRY4	HP:0000458	Anosmia	HP:0040281	ORPHA:478
81848	SPRY4	HP:0001763	Pes planus	HP:0040283	ORPHA:478
81848	SPRY4	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
81848	SPRY4	HP:0000508	Ptosis	HP:0040283	ORPHA:478
81848	SPRY4	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
81848	SPRY4	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
81857	MED25	HP:0001181	Adducted thumb	HP:0040283	ORPHA:464738
81857	MED25	HP:0002465	Poor speech	HP:0040282	ORPHA:464738
81857	MED25	HP:0002460	Distal muscle weakness	-	OMIM:605589
81857	MED25	HP:0009909	Uplifted earlobe	1/5	OMIM:616449
81857	MED25	HP:0001274	Agenesis of corpus callosum	1/5	OMIM:616449
81857	MED25	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:464738
81857	MED25	HP:0001288	Gait disturbance	HP:0040283	ORPHA:464738
81857	MED25	HP:0001284	Areflexia	-	OMIM:605589
81857	MED25	HP:0001250	Seizure	3/5	OMIM:616449
81857	MED25	HP:0001250	Seizure	HP:0040282	ORPHA:464738
81857	MED25	HP:0001252	Hypotonia	4/5	OMIM:616449
81857	MED25	HP:0001252	Hypotonia	HP:0040282	ORPHA:464738
81857	MED25	HP:0001265	Hyporeflexia	-	OMIM:605589
81857	MED25	HP:0001263	Global developmental delay	-	OMIM:616449
81857	MED25	HP:0001257	Spasticity	-	OMIM:616449
81857	MED25	HP:0001257	Spasticity	HP:0040283	ORPHA:464738
81857	MED25	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:464738
81857	MED25	HP:0007413	Nevus flammeus of the forehead	HP:0040281	ORPHA:464738
81857	MED25	HP:0007413	Nevus flammeus of the forehead	5/5	OMIM:616449
81857	MED25	HP:0008665	Clitoral hypertrophy	1/2	OMIM:616449
81857	MED25	HP:0002540	Inability to walk	HP:0040281	ORPHA:464738
81857	MED25	HP:0000047	Hypospadias	4/4	OMIM:616449
81857	MED25	HP:0000047	Hypospadias	HP:0040282	ORPHA:464738
81857	MED25	HP:0000023	Inguinal hernia	1/6	OMIM:616449
81857	MED25	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:464738
81857	MED25	HP:0001344	Absent speech	HP:0040282	ORPHA:464738
81857	MED25	HP:0000007	Autosomal recessive inheritance	-	OMIM:616449
81857	MED25	HP:0000007	Autosomal recessive inheritance	-	OMIM:605589
81857	MED25	HP:0002650	Scoliosis	HP:0040283	ORPHA:464738
81857	MED25	HP:0002650	Scoliosis	1/5	OMIM:616449
81857	MED25	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:464738
81857	MED25	HP:0000175	Cleft palate	2/6	OMIM:616449
81857	MED25	HP:0000175	Cleft palate	HP:0040283	ORPHA:464738
81857	MED25	HP:0002705	High, narrow palate	HP:0040283	ORPHA:464738
81857	MED25	HP:0000126	Hydronephrosis	HP:0040283	OMIM:616449
81857	MED25	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:464738
81857	MED25	HP:0002020	Gastroesophageal reflux	1/5	OMIM:616449
81857	MED25	HP:0002019	Constipation	2/5	OMIM:616449
81857	MED25	HP:0002019	Constipation	HP:0040283	ORPHA:464738
81857	MED25	HP:0004691	2-3 toe syndactyly	3/5	OMIM:616449
81857	MED25	HP:0004691	2-3 toe syndactyly	HP:0040283	ORPHA:464738
81857	MED25	HP:0002092	Pulmonary arterial hypertension	1/6	OMIM:616449
81857	MED25	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:464738
81857	MED25	HP:0002079	Hypoplasia of the corpus callosum	3/5	OMIM:616449
81857	MED25	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:464738
81857	MED25	HP:0002059	Cerebral atrophy	1/5	OMIM:616449
81857	MED25	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:464738
81857	MED25	HP:0009468	Deviation of the 2nd finger	HP:0040283	ORPHA:464738
81857	MED25	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	HP:0040283	ORPHA:464738
81857	MED25	HP:0002119	Ventriculomegaly	2/5	OMIM:616449
81857	MED25	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:605589
81857	MED25	HP:0010557	Overlapping fingers	HP:0040283	ORPHA:464738
81857	MED25	HP:0002263	Exaggerated cupid's bow	HP:0040282	ORPHA:464738
81857	MED25	HP:0003593	Infantile onset	2/6	OMIM:616449
81857	MED25	HP:0003577	Congenital onset	4/6	OMIM:616449
81857	MED25	HP:0003581	Adult onset	-	OMIM:605589
81857	MED25	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:464738
81857	MED25	HP:0032077	Male urethral meatus stenosis	HP:0040283	ORPHA:464738
81857	MED25	HP:0007082	Dilated third ventricle	HP:0040283	ORPHA:464738
81857	MED25	HP:0002389	Cavum septum pellucidum	HP:0040283	ORPHA:464738
81857	MED25	HP:0002389	Cavum septum pellucidum	2/5	OMIM:616449
81857	MED25	HP:0003693	Distal amyotrophy	-	OMIM:605589
81857	MED25	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:464738
81857	MED25	HP:0010804	Tented upper lip vermilion	-	OMIM:616449
81857	MED25	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:464738
81857	MED25	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:464738
81857	MED25	HP:0008499	High hypermetropia	HP:0040283	ORPHA:464738
81857	MED25	HP:0008499	High hypermetropia	1/6	OMIM:616449
81857	MED25	HP:0000646	Amblyopia	HP:0040283	ORPHA:464738
81857	MED25	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:464738
81857	MED25	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:464738
81857	MED25	HP:0010186	Broad distal phalanx of the toes	HP:0040283	ORPHA:464738
81857	MED25	HP:0000768	Pectus carinatum	1/5	OMIM:616449
81857	MED25	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:464738
81857	MED25	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:464738
81857	MED25	HP:0045075	Sparse eyebrow	HP:0040282	ORPHA:464738
81857	MED25	HP:0000954	Single transverse palmar crease	2/5	OMIM:616449
81857	MED25	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:464738
81857	MED25	HP:0008070	Sparse hair	5/5	OMIM:616449
81857	MED25	HP:0011670	Left superior vena cava draining to coronary sinus	HP:0040283	ORPHA:464738
81857	MED25	HP:0000286	Epicanthus	HP:0040282	ORPHA:464738
81857	MED25	HP:0000286	Epicanthus	-	OMIM:616449
81857	MED25	HP:0000278	Retrognathia	1/5	OMIM:616449
81857	MED25	HP:0000278	Retrognathia	HP:0040283	ORPHA:464738
81857	MED25	HP:0030084	Clinodactyly	HP:0040283	ORPHA:464738
81857	MED25	HP:0002808	Kyphosis	1/5	OMIM:616449
81857	MED25	HP:0002808	Kyphosis	HP:0040283	ORPHA:464738
81857	MED25	HP:0000252	Microcephaly	-	OMIM:616449
81857	MED25	HP:0000252	Microcephaly	HP:0040282	ORPHA:464738
81857	MED25	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:464738
81857	MED25	HP:0000221	Furrowed tongue	1/5	OMIM:616449
81857	MED25	HP:0000218	High palate	1/5	OMIM:616449
81857	MED25	HP:0000232	Everted lower lip vermilion	-	OMIM:616449
81857	MED25	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:464738
81857	MED25	HP:0006532	Recurrent pneumonia	2/6	OMIM:616449
81857	MED25	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:464738
81857	MED25	HP:0002936	Distal sensory impairment	-	OMIM:605589
81857	MED25	HP:0000369	Low-set ears	HP:0040283	ORPHA:464738
81857	MED25	HP:0000369	Low-set ears	1/5	OMIM:616449
81857	MED25	HP:0000348	High forehead	HP:0040282	ORPHA:464738
81857	MED25	HP:0000316	Hypertelorism	HP:0040282	ORPHA:464738
81857	MED25	HP:0000316	Hypertelorism	2/6	OMIM:616449
81857	MED25	HP:0000322	Short philtrum	3/6	OMIM:616449
81857	MED25	HP:0000322	Short philtrum	HP:0040282	ORPHA:464738
81857	MED25	HP:0001629	Ventricular septal defect	1/6	OMIM:616449
81857	MED25	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:464738
81857	MED25	HP:0001631	Atrial septal defect	2/6	OMIM:616449
81857	MED25	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:464738
81857	MED25	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:464738
81857	MED25	HP:0005274	Prominent nasal tip	HP:0040282	ORPHA:464738
81857	MED25	HP:0000486	Strabismus	HP:0040283	ORPHA:464738
81857	MED25	HP:0000486	Strabismus	1/6	OMIM:616449
81857	MED25	HP:0000482	Microcornea	2/6	OMIM:616449
81857	MED25	HP:0000482	Microcornea	HP:0040282	ORPHA:464738
81857	MED25	HP:0000494	Downslanted palpebral fissures	3/6	OMIM:616449
81857	MED25	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:464738
81857	MED25	HP:0000463	Anteverted nares	2/5	OMIM:616449
81857	MED25	HP:0000463	Anteverted nares	HP:0040283	ORPHA:464738
81857	MED25	HP:0001761	Pes cavus	HP:0040283	ORPHA:464738
81857	MED25	HP:0000518	Cataract	4/6	OMIM:616449
81857	MED25	HP:0000519	Developmental cataract	HP:0040282	ORPHA:464738
81857	MED25	HP:0001845	Overlapping toe	HP:0040283	ORPHA:464738
81857	MED25	HP:0000508	Ptosis	HP:0040282	ORPHA:464738
81857	MED25	HP:0000508	Ptosis	4/6	OMIM:616449
81857	MED25	HP:0000568	Microphthalmia	1/6	OMIM:616449
81857	MED25	HP:0000568	Microphthalmia	HP:0040283	ORPHA:464738
81858	SHARPIN	HP:0002583	Colitis	1/2	OMIM:620795
81858	SHARPIN	HP:0002573	Hematochezia	1/2	OMIM:620795
81858	SHARPIN	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	0/2	OMIM:620795
81858	SHARPIN	HP:0001369	Arthritis	1/2	OMIM:620795
81858	SHARPIN	HP:0000007	Autosomal recessive inheritance	-	OMIM:620795
81858	SHARPIN	HP:0002716	Lymphadenopathy	2/2	OMIM:620795
81858	SHARPIN	HP:0011850	Parotitis	1/2	OMIM:620795
81858	SHARPIN	HP:0003593	Infantile onset	1/2	OMIM:620795
81858	SHARPIN	HP:0002240	Hepatomegaly	1/2	OMIM:620795
81858	SHARPIN	HP:0003565	Elevated erythrocyte sedimentation rate	1/1	OMIM:620795
81858	SHARPIN	HP:0001974	Increased total leukocyte count	1/1	OMIM:620795
81858	SHARPIN	HP:0001954	Recurrent fever	2/2	OMIM:620795
81858	SHARPIN	HP:0011463	Childhood onset	1/2	OMIM:620795
81858	SHARPIN	HP:0030057	Autoimmune antibody positivity	0/2	OMIM:620795
81858	SHARPIN	HP:0000389	Chronic otitis media	1/2	OMIM:620795
81858	SHARPIN	HP:0006568	Increased hepatic glycogen content	1/2	OMIM:620795
81858	SHARPIN	HP:0001744	Splenomegaly	1/2	OMIM:620795
81887	LAS1L	HP:0001182	Tapered finger	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0001182	Tapered finger	5/14	OMIM:309585
81887	LAS1L	HP:0002465	Poor speech	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0009909	Uplifted earlobe	-	ORPHA:3459
81887	LAS1L	HP:0008551	Microtia	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0025268	Stuttering	6/14	OMIM:309585
81887	LAS1L	HP:0001250	Seizure	HP:0040283	ORPHA:3459
81887	LAS1L	HP:0001249	Intellectual disability	14/14	OMIM:309585
81887	LAS1L	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0001263	Global developmental delay	-	OMIM:309585
81887	LAS1L	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:3459
81887	LAS1L	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0000028	Cryptorchidism	7/14	OMIM:309585
81887	LAS1L	HP:0001328	Specific learning disability	HP:0040283	ORPHA:3459
81887	LAS1L	HP:0001344	Absent speech	3/14	OMIM:309585
81887	LAS1L	HP:0001419	X-linked recessive inheritance	-	OMIM:309585
81887	LAS1L	HP:0010620	Malar prominence	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0200055	Small hand	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0001956	Truncal obesity	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0004322	Short stature	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0000771	Gynecomastia	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0000771	Gynecomastia	8/14	OMIM:309585
81887	LAS1L	HP:0000750	Delayed speech and language development	-	OMIM:309585
81887	LAS1L	HP:0000712	Emotional lability	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0000712	Emotional lability	-	OMIM:309585
81887	LAS1L	HP:0000252	Microcephaly	2/14	OMIM:309585
81887	LAS1L	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0001513	Obesity	12/14	OMIM:309585
81887	LAS1L	HP:0000336	Prominent supraorbital ridges	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0000347	Micrognathia	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0000490	Deeply set eye	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0000455	Broad nasal tip	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0001773	Short foot	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0001773	Short foot	3/14	OMIM:309585
81887	LAS1L	HP:0001763	Pes planus	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0001763	Pes planus	4/14	OMIM:309585
81887	LAS1L	HP:0001761	Pes cavus	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0001761	Pes cavus	3/14	OMIM:309585
81887	LAS1L	HP:0000518	Cataract	-	ORPHA:3459
81887	LAS1L	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:3459
81887	LAS1L	HP:0000574	Thick eyebrow	14/14	OMIM:309585
81887	LAS1L	HP:0000540	Hypermetropia	-	ORPHA:3459
83394	PITPNM3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
83394	PITPNM3	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
83394	PITPNM3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
83394	PITPNM3	HP:0000006	Autosomal dominant inheritance	-	OMIM:600977
83394	PITPNM3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
83394	PITPNM3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
83394	PITPNM3	HP:0007663	Reduced visual acuity	-	OMIM:600977
83394	PITPNM3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
83394	PITPNM3	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
83394	PITPNM3	HP:0003621	Juvenile onset	8/19	OMIM:180100
83394	PITPNM3	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
83394	PITPNM3	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
83394	PITPNM3	HP:0000613	Photophobia	-	OMIM:600977
83394	PITPNM3	HP:0000608	Macular degeneration	-	OMIM:600977
83394	PITPNM3	HP:0000603	Central scotoma	-	OMIM:600977
83394	PITPNM3	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
83394	PITPNM3	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
83394	PITPNM3	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
83394	PITPNM3	HP:0000662	Nyctalopia	26/28	OMIM:180100
83394	PITPNM3	HP:0011463	Childhood onset	3/19	OMIM:180100
83394	PITPNM3	HP:0011463	Childhood onset	-	OMIM:600977
83394	PITPNM3	HP:0011462	Young adult onset	8/19	OMIM:180100
83394	PITPNM3	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
83394	PITPNM3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
83394	PITPNM3	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
83394	PITPNM3	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
83394	PITPNM3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
83394	PITPNM3	HP:0007814	Retinal pigment epithelial mottling	-	OMIM:600977
83394	PITPNM3	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
83394	PITPNM3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
83394	PITPNM3	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
83394	PITPNM3	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
83394	PITPNM3	HP:0000575	Scotoma	5/18	OMIM:180100
83394	PITPNM3	HP:0000551	Color vision defect	-	OMIM:600977
83394	PITPNM3	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
83394	PITPNM3	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:600977
83394	PITPNM3	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
83394	PITPNM3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
83394	PITPNM3	HP:0000545	Myopia	-	OMIM:180100
83449	PMFBP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618112
83449	PMFBP1	HP:0008226	Androgen insufficiency	-	ORPHA:529970
83449	PMFBP1	HP:0000798	Oligozoospermia	HP:0040282	ORPHA:529970
83449	PMFBP1	HP:0012867	Abnormal sperm mid-piece morphology	HP:0040283	ORPHA:529970
83449	PMFBP1	HP:0012869	Acephalic spermatozoa	2/2	OMIM:618112
83449	PMFBP1	HP:0012869	Acephalic spermatozoa	HP:0040281	ORPHA:529970
83449	PMFBP1	HP:0003251	Male infertility	2/2	OMIM:618112
83449	PMFBP1	HP:0003251	Male infertility	HP:0040281	ORPHA:529970
83449	PMFBP1	HP:0012207	Reduced sperm motility	HP:0040282	ORPHA:529970
83449	PMFBP1	HP:0002916	Abnormality of chromosome segregation	-	ORPHA:529970
83452	RAB33B	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
83452	RAB33B	HP:0001293	Cranial nerve compression	-	OMIM:131300
83452	RAB33B	HP:0001252	Hypotonia	2/7	OMIM:615777
83452	RAB33B	HP:0001249	Intellectual disability	0/4	OMIM:615222
83452	RAB33B	HP:0001249	Intellectual disability	5/7	OMIM:615777
83452	RAB33B	HP:0001263	Global developmental delay	-	OMIM:615777
83452	RAB33B	HP:0006009	Broad phalanx	1/1	OMIM:615222
83452	RAB33B	HP:0002515	Waddling gait	54/102	OMIM:131300
83452	RAB33B	HP:0008812	Flattened femoral head	1/1	OMIM:615222
83452	RAB33B	HP:0001377	Limited elbow extension	4/4	OMIM:615222
83452	RAB33B	HP:0001382	Joint hypermobility	-	OMIM:615777
83452	RAB33B	HP:0002694	Sclerosis of skull base	-	OMIM:131300
83452	RAB33B	HP:0008897	Postnatal growth retardation	-	OMIM:615777
83452	RAB33B	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
83452	RAB33B	HP:0001324	Muscle weakness	40/96	OMIM:131300
83452	RAB33B	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
83452	RAB33B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615222
83452	RAB33B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
83452	RAB33B	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
83452	RAB33B	HP:0002650	Scoliosis	12/14	OMIM:131300
83452	RAB33B	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
83452	RAB33B	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
83452	RAB33B	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
83452	RAB33B	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
83452	RAB33B	HP:0000175	Cleft palate	2/7	OMIM:615777
83452	RAB33B	HP:0006247	Enlarged interphalangeal joints	4/4	OMIM:615222
83452	RAB33B	HP:0003311	Hypoplasia of the odontoid process	1/1	OMIM:615222
83452	RAB33B	HP:0003307	Hyperlordosis	4/4	OMIM:615222
83452	RAB33B	HP:0003388	Easy fatigability	36/76	OMIM:131300
83452	RAB33B	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
83452	RAB33B	HP:0003510	Severe short stature	7/7	OMIM:615777
83452	RAB33B	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:615222
83452	RAB33B	HP:0002315	Headache	-	OMIM:131300
83452	RAB33B	HP:0004976	Knee dislocation	6/7	OMIM:615777
83452	RAB33B	HP:0009803	Short phalanx of finger	-	OMIM:615777
83452	RAB33B	HP:0009803	Short phalanx of finger	1/1	OMIM:615222
83452	RAB33B	HP:0010743	Short metatarsal	1/1	OMIM:615222
83452	RAB33B	HP:0009763	Limb pain	63/92	OMIM:131300
83452	RAB33B	HP:0003621	Juvenile onset	-	OMIM:131300
83452	RAB33B	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
83452	RAB33B	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
83452	RAB33B	HP:6001056	Out-toeing	-	OMIM:131300
83452	RAB33B	HP:0000651	Diplopia	-	OMIM:131300
83452	RAB33B	HP:0001956	Truncal obesity	2/7	OMIM:615777
83452	RAB33B	HP:0001903	Anemia	HP:0040283	OMIM:131300
83452	RAB33B	HP:0010049	Short metacarpal	-	OMIM:615777
83452	RAB33B	HP:0010049	Short metacarpal	1/1	OMIM:615222
83452	RAB33B	HP:0000678	Dental crowding	-	OMIM:615777
83452	RAB33B	HP:0000670	Carious teeth	-	OMIM:131300
83452	RAB33B	HP:0011304	Broad thumb	2/7	OMIM:615777
83452	RAB33B	HP:0000668	Hypodontia	-	OMIM:615777
83452	RAB33B	HP:0000664	Synophrys	-	OMIM:615777
83452	RAB33B	HP:0004325	Decreased body weight	-	OMIM:615222
83452	RAB33B	HP:0004322	Short stature	4/4	OMIM:615222
83452	RAB33B	HP:0003071	Flattened epiphysis	1/1	OMIM:615222
83452	RAB33B	HP:0004396	Poor appetite	-	OMIM:131300
83452	RAB33B	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
83452	RAB33B	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
83452	RAB33B	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
83452	RAB33B	HP:0003026	Short long bone	7/7	OMIM:615777
83452	RAB33B	HP:0003025	Metaphyseal irregularity	1/1	OMIM:615222
83452	RAB33B	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
83452	RAB33B	HP:0000767	Pectus excavatum	2/7	OMIM:615777
83452	RAB33B	HP:0000768	Pectus carinatum	1/7	OMIM:615777
83452	RAB33B	HP:0000768	Pectus carinatum	4/4	OMIM:615222
83452	RAB33B	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
83452	RAB33B	HP:0000750	Delayed speech and language development	-	OMIM:615777
83452	RAB33B	HP:0011463	Childhood onset	4/4	OMIM:615222
83452	RAB33B	HP:0011461	Fetal onset	7/7	OMIM:615777
83452	RAB33B	HP:0000774	Narrow chest	2/7	OMIM:615777
83452	RAB33B	HP:0000926	Platyspondyly	1/7	OMIM:615777
83452	RAB33B	HP:0000926	Platyspondyly	1/1	OMIM:615222
83452	RAB33B	HP:0003180	Flat acetabular roof	-	OMIM:615777
83452	RAB33B	HP:0003180	Flat acetabular roof	1/1	OMIM:615222
83452	RAB33B	HP:0004482	Relative macrocephaly	-	OMIM:615777
83452	RAB33B	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
83452	RAB33B	HP:0000823	Delayed puberty	-	OMIM:131300
83452	RAB33B	HP:0000894	Short clavicles	-	OMIM:615777
83452	RAB33B	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
83452	RAB33B	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
83452	RAB33B	HP:0000286	Epicanthus	1/7	OMIM:615777
83452	RAB33B	HP:0000280	Coarse facial features	2/7	OMIM:615777
83452	RAB33B	HP:0000280	Coarse facial features	0/4	OMIM:615222
83452	RAB33B	HP:0006429	Broad femoral neck	1/1	OMIM:615222
83452	RAB33B	HP:0002827	Hip dislocation	3/7	OMIM:615777
83452	RAB33B	HP:0000252	Microcephaly	-	OMIM:615777
83452	RAB33B	HP:0001552	Barrel-shaped chest	-	OMIM:615222
83452	RAB33B	HP:0002857	Genu valgum	-	OMIM:131300
83452	RAB33B	HP:0002857	Genu valgum	4/4	OMIM:615222
83452	RAB33B	HP:0001533	Slender build	-	OMIM:131300
83452	RAB33B	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
83452	RAB33B	HP:0007807	Optic nerve compression	-	OMIM:131300
83452	RAB33B	HP:0012368	Flat face	7/7	OMIM:615777
83452	RAB33B	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
83452	RAB33B	HP:0000365	Hearing impairment	10/67	OMIM:131300
83452	RAB33B	HP:0000343	Long philtrum	1/7	OMIM:615777
83452	RAB33B	HP:0011001	Increased bone mineral density	-	OMIM:131300
83452	RAB33B	HP:0000311	Round face	2/7	OMIM:615777
83452	RAB33B	HP:0002970	Genu varum	-	OMIM:615777
83452	RAB33B	HP:0000303	Mandibular prognathia	-	OMIM:131300
83452	RAB33B	HP:0000303	Mandibular prognathia	0/4	OMIM:615222
83452	RAB33B	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
83452	RAB33B	HP:0000470	Short neck	1/7	OMIM:615777
83452	RAB33B	HP:0000470	Short neck	4/4	OMIM:615222
83452	RAB33B	HP:0012428	Prominent calcaneus	1/4	OMIM:615222
83452	RAB33B	HP:0001769	Broad foot	HP:0040283	OMIM:615777
83452	RAB33B	HP:0001763	Pes planus	1/7	OMIM:615777
83452	RAB33B	HP:0001763	Pes planus	1/4	OMIM:615222
83452	RAB33B	HP:0001783	Broad metatarsal	1/1	OMIM:615222
83452	RAB33B	HP:0001840	Metatarsus adductus	-	OMIM:615777
83452	RAB33B	HP:0000520	Proptosis	2/4	OMIM:131300
83452	RAB33B	HP:0000520	Proptosis	7/7	OMIM:615777
83452	RAB33B	HP:0000592	Blue sclerae	2/7	OMIM:615777
83452	RAB33B	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
83452	RAB33B	HP:0012514	Lower limb pain	4/4	OMIM:131300
83475	DOHH	HP:0010880	Increased nuchal translucency	1/5	OMIM:620066
83475	DOHH	HP:0001272	Cerebellar atrophy	1/5	OMIM:620066
83475	DOHH	HP:0001252	Hypotonia	5/5	OMIM:620066
83475	DOHH	HP:0001249	Intellectual disability	-	OMIM:620066
83475	DOHH	HP:0001263	Global developmental delay	5/5	OMIM:620066
83475	DOHH	HP:0002540	Inability to walk	2/5	OMIM:620066
83475	DOHH	HP:0033725	Thin corpus callosum	4/5	OMIM:620066
83475	DOHH	HP:0001344	Absent speech	4/5	OMIM:620066
83475	DOHH	HP:0000007	Autosomal recessive inheritance	-	OMIM:620066
83475	DOHH	HP:0002719	Recurrent infections	3/5	OMIM:620066
83475	DOHH	HP:0002069	Bilateral tonic-clonic seizure	1/5	OMIM:620066
83475	DOHH	HP:0002078	Truncal ataxia	1/5	OMIM:620066
83475	DOHH	HP:0011705	First degree atrioventricular block	1/5	OMIM:620066
83475	DOHH	HP:0002119	Ventriculomegaly	1/5	OMIM:620066
83475	DOHH	HP:0002188	Delayed CNS myelination	2/5	OMIM:620066
83475	DOHH	HP:0002197	Generalized-onset seizure	2/5	OMIM:620066
83475	DOHH	HP:0003577	Congenital onset	4/5	OMIM:620066
83475	DOHH	HP:0100704	Cerebral visual impairment	1/5	OMIM:620066
83475	DOHH	HP:0002283	Global brain atrophy	3/5	OMIM:620066
83475	DOHH	HP:0011968	Feeding difficulties	2/5	OMIM:620066
83475	DOHH	HP:0010819	Atonic seizure	1/5	OMIM:620066
83475	DOHH	HP:0003623	Neonatal onset	1/5	OMIM:620066
83475	DOHH	HP:0000639	Nystagmus	3/5	OMIM:620066
83475	DOHH	HP:0011577	Partial atrioventricular canal defect	1/5	OMIM:620066
83475	DOHH	HP:0000252	Microcephaly	5/5	OMIM:620066
83475	DOHH	HP:0005180	Tricuspid regurgitation	1/5	OMIM:620066
83475	DOHH	HP:0005165	Shortened PR interval	1/5	OMIM:620066
83475	DOHH	HP:0011003	High myopia	1/5	OMIM:620066
83475	DOHH	HP:0001684	Secundum atrial septal defect	2/5	OMIM:620066
83475	DOHH	HP:0001680	Coarctation of aorta	1/5	OMIM:620066
83475	DOHH	HP:0001647	Bicuspid aortic valve	1/5	OMIM:620066
83475	DOHH	HP:0001659	Aortic regurgitation	1/5	OMIM:620066
83475	DOHH	HP:0001653	Mitral regurgitation	1/5	OMIM:620066
83475	DOHH	HP:0001629	Ventricular septal defect	2/5	OMIM:620066
83475	DOHH	HP:0001640	Cardiomegaly	1/5	OMIM:620066
83475	DOHH	HP:0001635	Congestive heart failure	1/5	OMIM:620066
83475	DOHH	HP:0001631	Atrial septal defect	1/5	OMIM:620066
83475	DOHH	HP:0006682	Premature ventricular contraction	1/5	OMIM:620066
83475	DOHH	HP:0000486	Strabismus	3/5	OMIM:620066
83478	ARHGAP24	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
83478	ARHGAP24	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
83478	ARHGAP24	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
83478	ARHGAP24	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
83478	ARHGAP24	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
83478	ARHGAP24	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
83478	ARHGAP24	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
83478	ARHGAP24	HP:0002315	Headache	HP:0040283	ORPHA:656
83478	ARHGAP24	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
83478	ARHGAP24	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
83478	ARHGAP24	HP:0001945	Fever	HP:0040283	ORPHA:656
83478	ARHGAP24	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
83478	ARHGAP24	HP:0000737	Irritability	HP:0040283	ORPHA:656
83478	ARHGAP24	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
83478	ARHGAP24	HP:0000969	Edema	HP:0040281	ORPHA:656
83478	ARHGAP24	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
83478	ARHGAP24	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
83479	DDX59	HP:0001162	Postaxial hand polydactyly	-	OMIM:174300
83479	DDX59	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:2919
83479	DDX59	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1/1	OMIM:174300
83479	DDX59	HP:0007236	Recurrent subcortical infarcts	1/1	OMIM:174300
83479	DDX59	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:2919
83479	DDX59	HP:0001274	Agenesis of corpus callosum	1/6	OMIM:174300
83479	DDX59	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2919
83479	DDX59	HP:0001249	Intellectual disability	8/8	OMIM:174300
83479	DDX59	HP:0001263	Global developmental delay	5/5	OMIM:174300
83479	DDX59	HP:0001212	Prominent fingertip pads	1/1	OMIM:174300
83479	DDX59	HP:0000085	Horseshoe kidney	1/6	OMIM:174300
83479	DDX59	HP:0000007	Autosomal recessive inheritance	-	OMIM:174300
83479	DDX59	HP:0002650	Scoliosis	HP:0040283	ORPHA:2919
83479	DDX59	HP:0002650	Scoliosis	1/6	OMIM:174300
83479	DDX59	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:2919
83479	DDX59	HP:0000180	Lobulated tongue	6/6	OMIM:174300
83479	DDX59	HP:0000193	Bifid uvula	4/6	OMIM:174300
83479	DDX59	HP:0000193	Bifid uvula	HP:0040283	ORPHA:2919
83479	DDX59	HP:0000190	Abnormal oral frenulum morphology	HP:0040283	ORPHA:2919
83479	DDX59	HP:0000191	Accessory oral frenulum	HP:0040282	ORPHA:2919
83479	DDX59	HP:0000161	Median cleft upper lip	HP:0040281	ORPHA:2919
83479	DDX59	HP:0000161	Median cleft upper lip	-	OMIM:174300
83479	DDX59	HP:0000175	Cleft palate	3/9	OMIM:174300
83479	DDX59	HP:0007687	Unilateral ptosis	1/3	OMIM:174300
83479	DDX59	HP:0002705	High, narrow palate	HP:0040283	ORPHA:2919
83479	DDX59	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:2919
83479	DDX59	HP:0002007	Frontal bossing	HP:0040282	ORPHA:2919
83479	DDX59	HP:0002007	Frontal bossing	6/6	OMIM:174300
83479	DDX59	HP:0011802	Hamartoma of tongue	3/3	OMIM:174300
83479	DDX59	HP:0010441	Ectopic accessory finger-like appendage	HP:0040283	ORPHA:2919
83479	DDX59	HP:0004736	Crossed fused renal ectopia	HP:0040283	ORPHA:2919
83479	DDX59	HP:0004736	Crossed fused renal ectopia	1/6	OMIM:174300
83479	DDX59	HP:0002197	Generalized-onset seizure	1/1	OMIM:174300
83479	DDX59	HP:0003577	Congenital onset	11/11	OMIM:174300
83479	DDX59	HP:0002251	Aganglionic megacolon	1/6	OMIM:174300
83479	DDX59	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:2919
83479	DDX59	HP:0002205	Recurrent respiratory infections	1/3	OMIM:174300
83479	DDX59	HP:0011968	Feeding difficulties	3/3	OMIM:174300
83479	DDX59	HP:0020045	Esodeviation	1/3	OMIM:174300
83479	DDX59	HP:0010800	Absent cupid's bow	HP:0040283	ORPHA:2919
83479	DDX59	HP:0004209	Clinodactyly of the 5th finger	1/1	OMIM:174300
83479	DDX59	HP:0000689	Dental malocclusion	2/2	OMIM:174300
83479	DDX59	HP:0000668	Hypodontia	1/3	OMIM:174300
83479	DDX59	HP:0000668	Hypodontia	HP:0040283	ORPHA:2919
83479	DDX59	HP:0012741	Unilateral cryptorchidism	1/3	OMIM:174300
83479	DDX59	HP:0012738	Agenesis of canine	HP:0040283	ORPHA:2919
83479	DDX59	HP:0100025	Overfriendliness	1/3	OMIM:174300
83479	DDX59	HP:0012725	Cutaneous syndactyly	1/1	OMIM:174300
83479	DDX59	HP:0100335	Non-midline cleft of the upper lip	HP:0040283	ORPHA:2919
83479	DDX59	HP:0010297	Bifid tongue	HP:0040282	ORPHA:2919
83479	DDX59	HP:0010297	Bifid tongue	2/3	OMIM:174300
83479	DDX59	HP:0010296	Ankyloglossia	1/3	OMIM:174300
83479	DDX59	HP:0100259	Postaxial polydactyly	9/11	OMIM:174300
83479	DDX59	HP:0005817	Postaxial polysyndactyly of foot	HP:0040283	ORPHA:2919
83479	DDX59	HP:0000288	Abnormality of the philtrum	HP:0040282	ORPHA:2919
83479	DDX59	HP:0000252	Microcephaly	HP:0040283	ORPHA:2919
83479	DDX59	HP:0000252	Microcephaly	4/5	OMIM:174300
83479	DDX59	HP:0000219	Thin upper lip vermilion	1/3	OMIM:174300
83479	DDX59	HP:0000218	High palate	3/5	OMIM:174300
83479	DDX59	HP:0011069	Supernumerary tooth	HP:0040283	ORPHA:2919
83479	DDX59	HP:0000365	Hearing impairment	2/3	OMIM:174300
83479	DDX59	HP:0000369	Low-set ears	3/3	OMIM:174300
83479	DDX59	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2919
83479	DDX59	HP:0000316	Hypertelorism	6/6	OMIM:174300
83479	DDX59	HP:0000324	Facial asymmetry	1/3	OMIM:174300
83479	DDX59	HP:0001629	Ventricular septal defect	1/3	OMIM:174300
83479	DDX59	HP:0001636	Tetralogy of Fallot	1/6	OMIM:174300
83479	DDX59	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:2919
83479	DDX59	HP:0000303	Mandibular prognathia	1/1	OMIM:174300
83479	DDX59	HP:0000494	Downslanted palpebral fissures	1/3	OMIM:174300
83479	DDX59	HP:0001852	Sandal gap	1/3	OMIM:174300
83479	DDX59	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:2919
83479	DDX59	HP:0001830	Postaxial foot polydactyly	-	OMIM:174300
83479	DDX59	HP:0000588	Optic disc coloboma	1/3	OMIM:174300
83479	DDX59	HP:0000574	Thick eyebrow	1/1	OMIM:174300
83480	PUS3	HP:0002465	Poor speech	HP:0040282	ORPHA:488627
83480	PUS3	HP:0010864	Intellectual disability, severe	2/3	OMIM:617051
83480	PUS3	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:488627
83480	PUS3	HP:0100814	Blue nevus	HP:0040283	ORPHA:488627
83480	PUS3	HP:0001288	Gait disturbance	HP:0040283	ORPHA:488627
83480	PUS3	HP:0001250	Seizure	1/3	OMIM:617051
83480	PUS3	HP:0001250	Seizure	HP:0040281	ORPHA:488627
83480	PUS3	HP:0001252	Hypotonia	1/3	OMIM:617051
83480	PUS3	HP:0001260	Dysarthria	HP:0040283	ORPHA:488627
83480	PUS3	HP:0001263	Global developmental delay	3/3	OMIM:617051
83480	PUS3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:488627
83480	PUS3	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:488627
83480	PUS3	HP:0000093	Proteinuria	HP:0040282	ORPHA:488627
83480	PUS3	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:488627
83480	PUS3	HP:0001344	Absent speech	HP:0040283	ORPHA:488627
83480	PUS3	HP:0000007	Autosomal recessive inheritance	-	OMIM:617051
83480	PUS3	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:488627
83480	PUS3	HP:0002015	Dysphagia	HP:0040283	ORPHA:488627
83480	PUS3	HP:0040329	Multifocal hyperintensity of cerebral white matter on MRI	HP:0040283	ORPHA:488627
83480	PUS3	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:488627
83480	PUS3	HP:0002059	Cerebral atrophy	1/3	OMIM:617051
83480	PUS3	HP:0002141	Gait imbalance	HP:0040283	ORPHA:488627
83480	PUS3	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:488627
83480	PUS3	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:488627
83480	PUS3	HP:0002119	Ventriculomegaly	1/3	OMIM:617051
83480	PUS3	HP:0002187	Intellectual disability, profound	HP:0040282	ORPHA:488627
83480	PUS3	HP:0002187	Intellectual disability, profound	1/3	OMIM:617051
83480	PUS3	HP:0002193	Pseudobulbar affect	HP:0040283	ORPHA:488627
83480	PUS3	HP:0003593	Infantile onset	3/3	OMIM:617051
83480	PUS3	HP:0100702	Arachnoid cyst	2/3	OMIM:617051
83480	PUS3	HP:0100702	Arachnoid cyst	HP:0040283	ORPHA:488627
83480	PUS3	HP:0007052	Multifocal cerebral white matter abnormalities	HP:0040282	ORPHA:488627
83480	PUS3	HP:0002367	Visual hallucination	HP:0040283	ORPHA:488627
83480	PUS3	HP:0001970	Tubulointerstitial nephritis	HP:0040283	ORPHA:488627
83480	PUS3	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:488627
83480	PUS3	HP:0000639	Nystagmus	HP:0040283	ORPHA:488627
83480	PUS3	HP:0006989	Dysplastic corpus callosum	HP:0040283	ORPHA:488627
83480	PUS3	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:488627
83480	PUS3	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:488627
83480	PUS3	HP:0000709	Psychosis	HP:0040283	ORPHA:488627
83480	PUS3	HP:0012760	Reduced social responsiveness	1/3	OMIM:617051
83480	PUS3	HP:0000961	Cyanosis	HP:0040283	ORPHA:488627
83480	PUS3	HP:0000280	Coarse facial features	HP:0040281	ORPHA:488627
83480	PUS3	HP:0000280	Coarse facial features	2/3	OMIM:617051
83480	PUS3	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:488627
83480	PUS3	HP:0000252	Microcephaly	2/3	OMIM:617051
83480	PUS3	HP:0012213	Decreased glomerular filtration rate	HP:0040282	ORPHA:488627
83480	PUS3	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:488627
83480	PUS3	HP:0002857	Genu valgum	HP:0040283	ORPHA:488627
83480	PUS3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:488627
83480	PUS3	HP:0000486	Strabismus	3/3	OMIM:617051
83480	PUS3	HP:0000486	Strabismus	HP:0040283	ORPHA:488627
83480	PUS3	HP:0000505	Visual impairment	HP:0040283	ORPHA:488627
83480	PUS3	HP:0000592	Blue sclerae	HP:0040283	ORPHA:488627
83480	PUS3	HP:0000592	Blue sclerae	3/3	OMIM:617051
83483	PLVAP	HP:0002573	Hematochezia	1/1	OMIM:618183
83483	PLVAP	HP:0012050	Anasarca	1/1	OMIM:618183
83483	PLVAP	HP:0000028	Cryptorchidism	1/1	OMIM:618183
83483	PLVAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:618183
83483	PLVAP	HP:0002788	Recurrent upper respiratory tract infections	1/1	OMIM:618183
83483	PLVAP	HP:0000110	Renal dysplasia	1/1	OMIM:618183
83483	PLVAP	HP:0000103	Polyuria	-	OMIM:618183
83483	PLVAP	HP:0002155	Hypertriglyceridemia	1/1	OMIM:618183
83483	PLVAP	HP:0002243	Protein-losing enteropathy	1/1	OMIM:618183
83483	PLVAP	HP:0002202	Pleural effusion	1/1	OMIM:618183
83483	PLVAP	HP:0011968	Feeding difficulties	1/1	OMIM:618183
83483	PLVAP	HP:0003623	Neonatal onset	1/1	OMIM:618183
83483	PLVAP	HP:0001942	Metabolic acidosis	1/1	OMIM:618183
83483	PLVAP	HP:0004313	Decreased circulating immunoglobulin concentration	1/1	OMIM:618183
83483	PLVAP	HP:0003073	Hypoalbuminemia	1/1	OMIM:618183
83483	PLVAP	HP:0000821	Hypothyroidism	-	OMIM:618183
83483	PLVAP	HP:0001561	Polyhydramnios	-	OMIM:618183
83483	PLVAP	HP:0001522	Death in infancy	1/1	OMIM:618183
83483	PLVAP	HP:0001541	Ascites	1/1	OMIM:618183
83483	PLVAP	HP:0005208	Secretory diarrhea	1/1	OMIM:618183
83483	PLVAP	HP:0002917	Hypomagnesemia	-	OMIM:618183
83483	PLVAP	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1/1	OMIM:618183
83483	PLVAP	HP:0002902	Hyponatremia	1/1	OMIM:618183
83483	PLVAP	HP:0002901	Hypocalcemia	-	OMIM:618183
83483	PLVAP	HP:0001698	Pericardial effusion	-	OMIM:618183
83483	PLVAP	HP:0000369	Low-set ears	1/1	OMIM:618183
83483	PLVAP	HP:0000347	Micrognathia	1/1	OMIM:618183
83483	PLVAP	HP:0000589	Coloboma	1/1	OMIM:618183
83538	ODAD4	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
83538	ODAD4	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
83538	ODAD4	HP:0001217	Clubbing	HP:0040283	ORPHA:244
83538	ODAD4	HP:0000007	Autosomal recessive inheritance	-	OMIM:617092
83538	ODAD4	HP:0002643	Neonatal respiratory distress	1/3	OMIM:617092
83538	ODAD4	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
83538	ODAD4	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
83538	ODAD4	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
83538	ODAD4	HP:0031245	Productive cough	HP:0040282	ORPHA:244
83538	ODAD4	HP:0031245	Productive cough	3/3	OMIM:617092
83538	ODAD4	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
83538	ODAD4	HP:0100582	Nasal polyposis	3/3	OMIM:617092
83538	ODAD4	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
83538	ODAD4	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
83538	ODAD4	HP:0002110	Bronchiectasis	3/3	OMIM:617092
83538	ODAD4	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
83538	ODAD4	HP:0008222	Female infertility	HP:0040283	ORPHA:244
83538	ODAD4	HP:0002257	Chronic rhinitis	3/3	OMIM:617092
83538	ODAD4	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
83538	ODAD4	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
83538	ODAD4	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
83538	ODAD4	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
83538	ODAD4	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
83538	ODAD4	HP:0003623	Neonatal onset	3/3	OMIM:617092
83538	ODAD4	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
83538	ODAD4	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
83538	ODAD4	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
83538	ODAD4	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
83538	ODAD4	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
83538	ODAD4	HP:0030828	Wheezing	HP:0040283	ORPHA:244
83538	ODAD4	HP:0003251	Male infertility	HP:0040282	ORPHA:244
83538	ODAD4	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
83538	ODAD4	HP:0033036	Decreased nasal nitric oxide	3/3	OMIM:617092
83538	ODAD4	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
83538	ODAD4	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
83538	ODAD4	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
83538	ODAD4	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
83538	ODAD4	HP:0000389	Chronic otitis media	3/3	OMIM:617092
83538	ODAD4	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
83538	ODAD4	HP:0006532	Recurrent pneumonia	3/3	OMIM:617092
83538	ODAD4	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
83538	ODAD4	HP:0001696	Situs inversus totalis	1/3	OMIM:617092
83538	ODAD4	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
83538	ODAD4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
83538	ODAD4	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
83538	ODAD4	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
83538	ODAD4	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
83538	ODAD4	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
83538	ODAD4	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
83538	ODAD4	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
83538	ODAD4	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
83538	ODAD4	HP:0031565	Abdominal situs ambiguus	1/3	OMIM:617092
83538	ODAD4	HP:0011109	Chronic sinusitis	3/3	OMIM:617092
83538	ODAD4	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
83538	ODAD4	HP:0001746	Asplenia	HP:0040284	ORPHA:244
83538	ODAD4	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
83538	ODAD4	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
83538	ODAD4	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
83538	ODAD4	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
83538	ODAD4	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
83544	DNAL1	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
83544	DNAL1	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
83544	DNAL1	HP:0001217	Clubbing	HP:0040283	ORPHA:244
83544	DNAL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614017
83544	DNAL1	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
83544	DNAL1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
83544	DNAL1	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
83544	DNAL1	HP:0031245	Productive cough	HP:0040282	ORPHA:244
83544	DNAL1	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
83544	DNAL1	HP:0010444	Pulmonic regurgitation	-	OMIM:614017
83544	DNAL1	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
83544	DNAL1	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
83544	DNAL1	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
83544	DNAL1	HP:0002110	Bronchiectasis	2/3	OMIM:614017
83544	DNAL1	HP:0008222	Female infertility	HP:0040283	ORPHA:244
83544	DNAL1	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
83544	DNAL1	HP:0002257	Chronic rhinitis	3/3	OMIM:614017
83544	DNAL1	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
83544	DNAL1	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
83544	DNAL1	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
83544	DNAL1	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
83544	DNAL1	HP:0003623	Neonatal onset	3/3	OMIM:614017
83544	DNAL1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
83544	DNAL1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
83544	DNAL1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
83544	DNAL1	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
83544	DNAL1	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
83544	DNAL1	HP:0030828	Wheezing	HP:0040283	ORPHA:244
83544	DNAL1	HP:0003251	Male infertility	HP:0040282	ORPHA:244
83544	DNAL1	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
83544	DNAL1	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
83544	DNAL1	HP:0012265	Ciliary dyskinesia	-	OMIM:614017
83544	DNAL1	HP:0012262	Abnormal ciliary motility	3/3	OMIM:614017
83544	DNAL1	HP:0012256	Absent outer dynein arms	3/3	OMIM:614017
83544	DNAL1	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
83544	DNAL1	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
83544	DNAL1	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
83544	DNAL1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
83544	DNAL1	HP:0000389	Chronic otitis media	3/3	OMIM:614017
83544	DNAL1	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
83544	DNAL1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
83544	DNAL1	HP:0001696	Situs inversus totalis	3/3	OMIM:614017
83544	DNAL1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
83544	DNAL1	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
83544	DNAL1	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
83544	DNAL1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
83544	DNAL1	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
83544	DNAL1	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
83544	DNAL1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
83544	DNAL1	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
83544	DNAL1	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
83544	DNAL1	HP:0011109	Chronic sinusitis	-	OMIM:614017
83544	DNAL1	HP:0001746	Asplenia	HP:0040284	ORPHA:244
83544	DNAL1	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
83544	DNAL1	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
83544	DNAL1	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
83544	DNAL1	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
83544	DNAL1	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
83548	COG3	HP:0001270	Motor delay	2/3	OMIM:620546
83548	COG3	HP:0001250	Seizure	2/2	OMIM:620546
83548	COG3	HP:0001249	Intellectual disability	3/3	OMIM:620546
83548	COG3	HP:0001263	Global developmental delay	4/4	OMIM:620546
83548	COG3	HP:0001257	Spasticity	1/3	OMIM:620546
83548	COG3	HP:0033725	Thin corpus callosum	2/2	OMIM:620546
83548	COG3	HP:0001344	Absent speech	2/3	OMIM:620546
83548	COG3	HP:0000007	Autosomal recessive inheritance	-	OMIM:620546
83548	COG3	HP:0008936	Axial hypotonia	2/4	OMIM:620546
83548	COG3	HP:0002188	Delayed CNS myelination	2/2	OMIM:620546
83548	COG3	HP:0003593	Infantile onset	2/4	OMIM:620546
83548	COG3	HP:0002353	EEG abnormality	2/2	OMIM:620546
83548	COG3	HP:0006855	Cerebellar vermis atrophy	2/2	OMIM:620546
83548	COG3	HP:0000639	Nystagmus	2/2	OMIM:620546
83548	COG3	HP:0000750	Delayed speech and language development	2/2	OMIM:620546
83548	COG3	HP:0000718	Aggressive behavior	2/4	OMIM:620546
83548	COG3	HP:0011463	Childhood onset	2/4	OMIM:620546
83548	COG3	HP:0003160	Abnormal isoelectric focusing of serum transferrin	1/1	OMIM:620546
83548	COG3	HP:0003202	Skeletal muscle atrophy	2/4	OMIM:620546
83548	COG3	HP:0034392	Joint contracture	1/3	OMIM:620546
83548	COG3	HP:0000276	Long face	1/4	OMIM:620546
83548	COG3	HP:0000252	Microcephaly	3/3	OMIM:620546
83548	COG3	HP:0000233	Thin vermilion border	1/4	OMIM:620546
83548	COG3	HP:0012389	Appendicular hypotonia	2/4	OMIM:620546
83548	COG3	HP:0000369	Low-set ears	1/4	OMIM:620546
83548	COG3	HP:0000343	Long philtrum	1/4	OMIM:620546
83548	COG3	HP:0032792	Tonic seizure	1/2	OMIM:620546
83548	COG3	HP:0032794	Myoclonic seizure	2/2	OMIM:620546
83548	COG3	HP:0000316	Hypertelorism	1/4	OMIM:620546
83548	COG3	HP:0000400	Macrotia	1/4	OMIM:620546
83548	COG3	HP:0000486	Strabismus	1/2	OMIM:620546
83548	COG3	HP:0000448	Prominent nose	1/4	OMIM:620546
83548	COG3	HP:0000505	Visual impairment	1/3	OMIM:620546
83550	GPR101	HP:0001176	Large hands	HP:0040281	ORPHA:963
83550	GPR101	HP:0001182	Tapered finger	HP:0040281	ORPHA:963
83550	GPR101	HP:0001123	Visual field defect	HP:0040283	ORPHA:963
83550	GPR101	HP:0025267	Snoring	-	OMIM:300942
83550	GPR101	HP:0100829	Galactorrhea	HP:0040283	ORPHA:963
83550	GPR101	HP:0001250	Seizure	1/1	OMIM:300942
83550	GPR101	HP:0002591	Polyphagia	-	OMIM:300942
83550	GPR101	HP:0007440	Generalized hyperpigmentation	HP:0040283	ORPHA:963
83550	GPR101	HP:0003859	Cortical diaphyseal thickening of the upper limbs	HP:0040281	ORPHA:963
83550	GPR101	HP:0000098	Tall stature	-	OMIM:300942
83550	GPR101	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:963
83550	GPR101	HP:0001386	Joint swelling	HP:0040281	ORPHA:963
83550	GPR101	HP:0006191	Deep palmar crease	HP:0040281	ORPHA:963
83550	GPR101	HP:0033794	Acral overgrowth	HP:0040281	ORPHA:963
83550	GPR101	HP:0033794	Acral overgrowth	8/12	OMIM:300942
83550	GPR101	HP:0012185	Constrictive median neuropathy	HP:0040282	ORPHA:963
83550	GPR101	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:963
83550	GPR101	HP:0000158	Macroglossia	HP:0040281	ORPHA:963
83550	GPR101	HP:0025406	Asthenia	HP:0040282	ORPHA:963
83550	GPR101	HP:0002758	Osteoarthritis	HP:0040281	ORPHA:963
83550	GPR101	HP:0001423	X-linked dominant inheritance	-	OMIM:300942
83550	GPR101	HP:0500001	Body odor	-	OMIM:300942
83550	GPR101	HP:0001417	X-linked inheritance	-	OMIM:300943
83550	GPR101	HP:0005987	Multinodular goiter	HP:0040282	ORPHA:963
83550	GPR101	HP:0003326	Myalgia	HP:0040283	ORPHA:963
83550	GPR101	HP:0002007	Frontal bossing	HP:0040282	ORPHA:963
83550	GPR101	HP:0005978	Type II diabetes mellitus	HP:0040282	ORPHA:963
83550	GPR101	HP:0100540	Palpebral edema	HP:0040282	ORPHA:963
83550	GPR101	HP:0002076	Migraine	HP:0040282	ORPHA:963
83550	GPR101	HP:0100518	Dysuria	HP:0040283	ORPHA:963
83550	GPR101	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040281	ORPHA:963
83550	GPR101	HP:0002155	Hypertriglyceridemia	HP:0040283	ORPHA:963
83550	GPR101	HP:0003416	Spinal canal stenosis	HP:0040282	ORPHA:963
83550	GPR101	HP:0010609	Skin tags	HP:0040282	ORPHA:963
83550	GPR101	HP:0008245	Pituitary hypothyroidism	HP:0040283	ORPHA:963
83550	GPR101	HP:0010541	Cutis gyrata of scalp	HP:0040283	ORPHA:963
83550	GPR101	HP:0010535	Sleep apnea	HP:0040282	ORPHA:963
83550	GPR101	HP:0010535	Sleep apnea	-	OMIM:300942
83550	GPR101	HP:0003401	Paresthesia	HP:0040282	ORPHA:963
83550	GPR101	HP:0046504	Decreased libido	HP:0040283	ORPHA:963
83550	GPR101	HP:0003593	Infantile onset	-	OMIM:300942
83550	GPR101	HP:0002230	Generalized hirsutism	HP:0040282	ORPHA:963
83550	GPR101	HP:0100786	Hypersomnia	HP:0040283	ORPHA:963
83550	GPR101	HP:0001051	Seborrheic dermatitis	HP:0040281	ORPHA:963
83550	GPR101	HP:0001061	Acne	HP:0040283	ORPHA:963
83550	GPR101	HP:0002315	Headache	HP:0040283	ORPHA:963
83550	GPR101	HP:0002315	Headache	4/13	OMIM:300942
83550	GPR101	HP:0100607	Dysmenorrhea	HP:0040282	ORPHA:963
83550	GPR101	HP:0001072	Thickened skin	HP:0040281	ORPHA:963
83550	GPR101	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:963
83550	GPR101	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:963
83550	GPR101	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:963
83550	GPR101	HP:0011334	Facial shape deformation	HP:0040282	ORPHA:963
83550	GPR101	HP:0000689	Dental malocclusion	HP:0040283	ORPHA:963
83550	GPR101	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:963
83550	GPR101	HP:0000687	Widely spaced teeth	2/12	OMIM:300942
83550	GPR101	HP:0000664	Synophrys	HP:0040282	ORPHA:963
83550	GPR101	HP:0005616	Accelerated skeletal maturation	-	OMIM:300942
83550	GPR101	HP:0000802	Impotence	HP:0040283	ORPHA:963
83550	GPR101	HP:0000739	Anxiety	HP:0040282	ORPHA:963
83550	GPR101	HP:0000716	Depression	HP:0040282	ORPHA:963
83550	GPR101	HP:0011463	Childhood onset	-	OMIM:300942
83550	GPR101	HP:0000789	Infertility	HP:0040283	ORPHA:963
83550	GPR101	HP:0000876	Oligomenorrhea	HP:0040283	ORPHA:963
83550	GPR101	HP:0000855	Insulin resistance	HP:0040282	ORPHA:963
83550	GPR101	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:963
83550	GPR101	HP:0000870	Increased circulating prolactin concentration	24/27	OMIM:300942
83550	GPR101	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:963
83550	GPR101	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:963
83550	GPR101	HP:0000846	Adrenal insufficiency	HP:0040283	ORPHA:963
83550	GPR101	HP:0000845	Elevated circulating growth hormone concentration	HP:0040281	ORPHA:963
83550	GPR101	HP:0000845	Elevated circulating growth hormone concentration	-	OMIM:300943
83550	GPR101	HP:0000845	Elevated circulating growth hormone concentration	27/27	OMIM:300942
83550	GPR101	HP:0012802	Broad jaw	HP:0040282	ORPHA:963
83550	GPR101	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:963
83550	GPR101	HP:0000818	Abnormality of the endocrine system	HP:0040281	ORPHA:963
83550	GPR101	HP:0000822	Hypertension	HP:0040282	ORPHA:963
83550	GPR101	HP:0040075	Hypopituitarism	1/1	OMIM:300942
83550	GPR101	HP:0003233	Decreased HDL cholesterol concentration	HP:0040283	ORPHA:963
83550	GPR101	HP:0000998	Hypertrichosis	HP:0040283	ORPHA:963
83550	GPR101	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:963
83550	GPR101	HP:0000975	Hyperhidrosis	3/13	OMIM:300942
83550	GPR101	HP:0000956	Acanthosis nigricans	HP:0040283	ORPHA:963
83550	GPR101	HP:0000956	Acanthosis nigricans	2/12	OMIM:300942
83550	GPR101	HP:0011675	Arrhythmia	HP:0040283	ORPHA:963
83550	GPR101	HP:0000280	Coarse facial features	HP:0040281	ORPHA:963
83550	GPR101	HP:0000280	Coarse facial features	6/13	OMIM:300942
83550	GPR101	HP:0000293	Full cheeks	HP:0040281	ORPHA:963
83550	GPR101	HP:0000276	Long face	HP:0040281	ORPHA:963
83550	GPR101	HP:0002829	Arthralgia	HP:0040281	ORPHA:963
83550	GPR101	HP:0002829	Arthralgia	1/12	OMIM:300942
83550	GPR101	HP:0002808	Kyphosis	1/1	OMIM:300942
83550	GPR101	HP:0002808	Kyphosis	HP:0040282	ORPHA:963
83550	GPR101	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:963
83550	GPR101	HP:0001548	Overgrowth	1/1	OMIM:300942
83550	GPR101	HP:0002893	Pituitary adenoma	-	OMIM:300943
83550	GPR101	HP:0002893	Pituitary adenoma	21/26	OMIM:300942
83550	GPR101	HP:0025693	Pituitary macroadenoma	HP:0040282	ORPHA:963
83550	GPR101	HP:0012378	Fatigue	HP:0040281	ORPHA:963
83550	GPR101	HP:0012377	Hemianopia	1/1	OMIM:300942
83550	GPR101	HP:0005266	Intestinal polyp	HP:0040283	ORPHA:963
83550	GPR101	HP:0001609	Hoarse voice	HP:0040282	ORPHA:963
83550	GPR101	HP:0000337	Broad forehead	HP:0040281	ORPHA:963
83550	GPR101	HP:0000336	Prominent supraorbital ridges	HP:0040282	ORPHA:963
83550	GPR101	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:963
83550	GPR101	HP:0002953	Vertebral compression fracture	HP:0040283	ORPHA:963
83550	GPR101	HP:0030166	Night sweats	HP:0040283	ORPHA:963
83550	GPR101	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:963
83550	GPR101	HP:0000303	Mandibular prognathia	HP:0040281	ORPHA:963
83550	GPR101	HP:0031653	Abnormal heart valve physiology	HP:0040283	ORPHA:963
83550	GPR101	HP:0000400	Macrotia	HP:0040281	ORPHA:963
83550	GPR101	HP:0001714	Ventricular hypertrophy	-	OMIM:300942
83550	GPR101	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:963
83550	GPR101	HP:0012452	Restless legs	HP:0040283	ORPHA:963
83550	GPR101	HP:0001769	Broad foot	HP:0040281	ORPHA:963
83550	GPR101	HP:0030269	Increased circulating insulin-like growth factor 1 concentration	HP:0040282	ORPHA:963
83550	GPR101	HP:0030269	Increased circulating insulin-like growth factor 1 concentration	27/27	OMIM:300942
83550	GPR101	HP:0000445	Wide nose	HP:0040281	ORPHA:963
83550	GPR101	HP:0006767	Pituitary prolactin cell adenoma	HP:0040283	ORPHA:963
83550	GPR101	HP:0004099	Macrodactyly	HP:0040281	ORPHA:963
83550	GPR101	HP:0001869	Deep plantar creases	HP:0040281	ORPHA:963
83552	MFRP	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
83552	MFRP	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
83552	MFRP	HP:0000007	Autosomal recessive inheritance	-	OMIM:611040
83552	MFRP	HP:0000007	Autosomal recessive inheritance	-	OMIM:609549
83552	MFRP	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
83552	MFRP	HP:0012152	Foveoschisis	4/4	OMIM:611040
83552	MFRP	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
83552	MFRP	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
83552	MFRP	HP:0007663	Reduced visual acuity	8/8	OMIM:611040
83552	MFRP	HP:0008323	Abnormal light- and dark-adapted electroretinogram	4/4	OMIM:611040
83552	MFRP	HP:0008499	High hypermetropia	HP:0040281	ORPHA:35612
83552	MFRP	HP:0008499	High hypermetropia	4/4	OMIM:611040
83552	MFRP	HP:0003621	Juvenile onset	8/19	OMIM:180100
83552	MFRP	HP:0000613	Photophobia	HP:0040283	OMIM:611040
83552	MFRP	HP:0000610	Abnormal choroid morphology	HP:0040281	ORPHA:35612
83552	MFRP	HP:0000662	Nyctalopia	4/4	OMIM:611040
83552	MFRP	HP:0000662	Nyctalopia	26/28	OMIM:180100
83552	MFRP	HP:0011463	Childhood onset	3/19	OMIM:180100
83552	MFRP	HP:0011462	Young adult onset	8/19	OMIM:180100
83552	MFRP	HP:0011462	Young adult onset	4/4	OMIM:611040
83552	MFRP	HP:0011505	Cystoid macular edema	0/4	OMIM:611040
83552	MFRP	HP:0030823	Scleral thickening	4/4	OMIM:611040
83552	MFRP	HP:0007722	Retinal pigment epithelial atrophy	1/1	OMIM:611040
83552	MFRP	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:35612
83552	MFRP	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
83552	MFRP	HP:0007737	Bone spicule pigmentation of the retina	4/4	OMIM:611040
83552	MFRP	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
83552	MFRP	HP:0000486	Strabismus	HP:0040281	ORPHA:35612
83552	MFRP	HP:0012426	Optic disc drusen	4/4	OMIM:611040
83552	MFRP	HP:0000518	Cataract	0/4	OMIM:611040
83552	MFRP	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
83552	MFRP	HP:0000501	Glaucoma	HP:0040281	ORPHA:35612
83552	MFRP	HP:0000575	Scotoma	5/18	OMIM:180100
83552	MFRP	HP:0000568	Microphthalmia	HP:0040281	ORPHA:35612
83552	MFRP	HP:0000568	Microphthalmia	-	OMIM:609549
83552	MFRP	HP:0000568	Microphthalmia	4/4	OMIM:611040
83552	MFRP	HP:0000543	Optic disc pallor	4/4	OMIM:611040
83552	MFRP	HP:0000543	Optic disc pallor	1/1	OMIM:180100
83552	MFRP	HP:0000545	Myopia	-	OMIM:180100
83595	SOX7	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
83595	SOX7	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
83595	SOX7	HP:0004467	Preauricular pit	-	OMIM:187500
83595	SOX7	HP:0000337	Broad forehead	-	OMIM:187500
83595	SOX7	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
83595	SOX7	HP:0000520	Proptosis	-	OMIM:187500
83605	CCM2	HP:0033522	Cerebral cavernous malformation	HP:0040280	ORPHA:221061
83605	CCM2	HP:0033522	Cerebral cavernous malformation	-	OMIM:116860
83605	CCM2	HP:0033522	Cerebral cavernous malformation	3/3	OMIM:603284
83605	CCM2	HP:0001297	Stroke	-	OMIM:603284
83605	CCM2	HP:0001250	Seizure	-	OMIM:603284
83605	CCM2	HP:0001250	Seizure	HP:0040281	ORPHA:221061
83605	CCM2	HP:0001250	Seizure	-	OMIM:116860
83605	CCM2	HP:0002572	Episodic vomiting	HP:0040283	ORPHA:221061
83605	CCM2	HP:0002516	Increased intracranial pressure	HP:0040282	ORPHA:221061
83605	CCM2	HP:0002514	Cerebral calcification	-	OMIM:116860
83605	CCM2	HP:0003829	Typified by incomplete penetrance	-	OMIM:116860
83605	CCM2	HP:0001324	Muscle weakness	HP:0040282	ORPHA:221061
83605	CCM2	HP:0001342	Cerebral hemorrhage	-	OMIM:603284
83605	CCM2	HP:0001342	Cerebral hemorrhage	HP:0040281	ORPHA:221061
83605	CCM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:603284
83605	CCM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:116860
83605	CCM2	HP:0033748	Hypoesthesia	HP:0040282	ORPHA:221061
83605	CCM2	HP:0002650	Scoliosis	HP:0040282	ORPHA:221061
83605	CCM2	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:221061
83605	CCM2	HP:0100561	Spinal cord lesion	HP:0040283	ORPHA:221061
83605	CCM2	HP:0002170	Intracranial hemorrhage	-	OMIM:116860
83605	CCM2	HP:0009588	Vestibular schwannoma	HP:0040284	ORPHA:221061
83605	CCM2	HP:0010512	Adrenal calcification	HP:0040284	ORPHA:221061
83605	CCM2	HP:0003401	Paresthesia	HP:0040282	ORPHA:221061
83605	CCM2	HP:0009592	Astrocytoma	HP:0040284	ORPHA:221061
83605	CCM2	HP:0001048	Cavernous hemangioma	HP:0040282	ORPHA:221061
83605	CCM2	HP:0001028	Hemangioma	HP:0040282	ORPHA:221061
83605	CCM2	HP:0001009	Telangiectasia	-	OMIM:603284
83605	CCM2	HP:0002315	Headache	HP:0040281	ORPHA:221061
83605	CCM2	HP:0002315	Headache	-	OMIM:116860
83605	CCM2	HP:0002315	Headache	-	OMIM:603284
83605	CCM2	HP:0003011	Abnormality of the musculature	-	OMIM:116860
83605	CCM2	HP:0012749	Focal T2 hypointense brainstem lesion	HP:0040282	ORPHA:221061
83605	CCM2	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040282	ORPHA:221061
83605	CCM2	HP:0012721	Venous malformation	HP:0040283	ORPHA:221061
83605	CCM2	HP:0011513	Retinal cavernous hemangioma	HP:0040283	ORPHA:221061
83605	CCM2	HP:0000951	Abnormality of the skin	-	OMIM:116860
83605	CCM2	HP:0007797	Retinal vascular malformation	-	OMIM:116860
83605	CCM2	HP:0002858	Meningioma	HP:0040284	ORPHA:221061
83605	CCM2	HP:0006576	Hepatic vascular malformations	-	OMIM:116860
83605	CCM2	HP:0007872	Choroidal hemangioma	HP:0040283	ORPHA:221061
83605	CCM2	HP:0030430	Neuroma	HP:0040282	ORPHA:221061
83605	CCM2	HP:0011276	Vascular skin abnormality	HP:0040283	ORPHA:221061
83636	C19orf12	HP:0002460	Distal muscle weakness	-	OMIM:614298
83636	C19orf12	HP:0002454	Eye of the tiger anomaly of globus pallidus	1/24	OMIM:614298
83636	C19orf12	HP:0007325	Generalized dystonia	15/23	OMIM:614298
83636	C19orf12	HP:0007256	Abnormal pyramidal sign	18/24	OMIM:614298
83636	C19orf12	HP:0001272	Cerebellar atrophy	HP:0040283	OMIM:614298
83636	C19orf12	HP:0001268	Mental deterioration	-	OMIM:614298
83636	C19orf12	HP:0001288	Gait disturbance	-	OMIM:614298
83636	C19orf12	HP:0001288	Gait disturbance	4/4	OMIM:615043
83636	C19orf12	HP:0001251	Ataxia	-	OMIM:614298
83636	C19orf12	HP:0001265	Hyporeflexia	-	OMIM:614298
83636	C19orf12	HP:0001265	Hyporeflexia	1/2	OMIM:615043
83636	C19orf12	HP:0001260	Dysarthria	17/24	OMIM:614298
83636	C19orf12	HP:0001260	Dysarthria	-	OMIM:615043
83636	C19orf12	HP:0001263	Global developmental delay	HP:0040283	OMIM:614298
83636	C19orf12	HP:0001258	Spastic paraplegia	-	OMIM:615043
83636	C19orf12	HP:0001257	Spasticity	-	OMIM:614298
83636	C19orf12	HP:0001257	Spasticity	4/4	OMIM:615043
83636	C19orf12	HP:0002505	Loss of ambulation	8/24	OMIM:614298
83636	C19orf12	HP:0002505	Loss of ambulation	2/2	OMIM:615043
83636	C19orf12	HP:0012048	Oromandibular dystonia	10/24	OMIM:614298
83636	C19orf12	HP:0001347	Hyperreflexia	-	OMIM:614298
83636	C19orf12	HP:0001347	Hyperreflexia	-	OMIM:615043
83636	C19orf12	HP:0001332	Dystonia	-	OMIM:614298
83636	C19orf12	HP:0001324	Muscle weakness	4/4	OMIM:615043
83636	C19orf12	HP:0000007	Autosomal recessive inheritance	-	OMIM:615043
83636	C19orf12	HP:0000007	Autosomal recessive inheritance	-	OMIM:614298
83636	C19orf12	HP:0001337	Tremor	-	OMIM:614298
83636	C19orf12	HP:0000006	Autosomal dominant inheritance	-	OMIM:614298
83636	C19orf12	HP:0001300	Parkinsonism	13/18	OMIM:614298
83636	C19orf12	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:614298
83636	C19orf12	HP:0003487	Babinski sign	14/18	OMIM:614298
83636	C19orf12	HP:0003487	Babinski sign	-	OMIM:615043
83636	C19orf12	HP:0002180	Neurodegeneration	-	OMIM:614298
83636	C19orf12	HP:0100710	Impulsivity	-	OMIM:614298
83636	C19orf12	HP:0007002	Motor axonal neuropathy	8/18	OMIM:614298
83636	C19orf12	HP:0002366	Abnormal lower motor neuron morphology	-	OMIM:614298
83636	C19orf12	HP:0003693	Distal amyotrophy	-	OMIM:614298
83636	C19orf12	HP:0003693	Distal amyotrophy	3/4	OMIM:615043
83636	C19orf12	HP:0003691	Scapular winging	-	OMIM:614298
83636	C19orf12	HP:0003676	Progressive	-	OMIM:614298
83636	C19orf12	HP:0003677	Slowly progressive	-	OMIM:615043
83636	C19orf12	HP:0009830	Peripheral neuropathy	4/4	OMIM:615043
83636	C19orf12	HP:0003621	Juvenile onset	4/4	OMIM:615043
83636	C19orf12	HP:0003621	Juvenile onset	19/24	OMIM:614298
83636	C19orf12	HP:0000648	Optic atrophy	20/23	OMIM:614298
83636	C19orf12	HP:0000648	Optic atrophy	2/4	OMIM:615043
83636	C19orf12	HP:0000750	Delayed speech and language development	-	OMIM:614298
83636	C19orf12	HP:0000716	Depression	-	OMIM:614298
83636	C19orf12	HP:0000712	Emotional lability	-	OMIM:614298
83636	C19orf12	HP:0000726	Dementia	-	OMIM:614298
83636	C19orf12	HP:0011463	Childhood onset	3/24	OMIM:614298
83636	C19orf12	HP:0011462	Young adult onset	2/24	OMIM:614298
83636	C19orf12	HP:0100315	Lewy bodies	-	OMIM:614298
83636	C19orf12	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:614298
83636	C19orf12	HP:0006466	Ankle flexion contracture	-	OMIM:615043
83636	C19orf12	HP:0006380	Knee flexion contracture	-	OMIM:615043
83636	C19orf12	HP:0002936	Distal sensory impairment	3/4	OMIM:615043
83636	C19orf12	HP:0001761	Pes cavus	-	OMIM:614298
83636	C19orf12	HP:0001761	Pes cavus	-	OMIM:615043
83636	C19orf12	HP:0000529	Progressive visual loss	-	OMIM:614298
83696	TRAPPC9	HP:0001182	Tapered finger	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0009891	Underdeveloped supraorbital ridges	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0003763	Bruxism	1/3	OMIM:613192
83696	TRAPPC9	HP:0001250	Seizure	HP:0040282	ORPHA:352530
83696	TRAPPC9	HP:0001250	Seizure	HP:0040283	OMIM:613192
83696	TRAPPC9	HP:0001252	Hypotonia	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0001249	Intellectual disability	3/3	OMIM:613192
83696	TRAPPC9	HP:0001263	Global developmental delay	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0001263	Global developmental delay	1/3	OMIM:613192
83696	TRAPPC9	HP:0001238	Slender finger	1/3	OMIM:613192
83696	TRAPPC9	HP:0002500	Abnormal cerebral white matter morphology	1/3	OMIM:613192
83696	TRAPPC9	HP:0000007	Autosomal recessive inheritance	-	OMIM:613192
83696	TRAPPC9	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0007642	Congenital stationary night blindness	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0002714	Downturned corners of mouth	HP:0040283	OMIM:613192
83696	TRAPPC9	HP:0002714	Downturned corners of mouth	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0002079	Hypoplasia of the corpus callosum	2/3	OMIM:613192
83696	TRAPPC9	HP:0002079	Hypoplasia of the corpus callosum	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0002047	Malignant hyperthermia	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:352530
83696	TRAPPC9	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0002265	Large fleshy ears	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0003593	Infantile onset	3/3	OMIM:613192
83696	TRAPPC9	HP:0007068	Inferior cerebellar vermis hypoplasia	1/3	OMIM:613192
83696	TRAPPC9	HP:0007052	Multifocal cerebral white matter abnormalities	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0001956	Truncal obesity	3/3	OMIM:613192
83696	TRAPPC9	HP:0000601	Hypotelorism	1/3	OMIM:613192
83696	TRAPPC9	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0000664	Synophrys	HP:0040283	OMIM:613192
83696	TRAPPC9	HP:0000664	Synophrys	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0031936	Delayed ability to walk	-	OMIM:613192
83696	TRAPPC9	HP:0000752	Hyperactivity	2/3	OMIM:613192
83696	TRAPPC9	HP:0100023	Recurrent hand flapping	1/3	OMIM:613192
83696	TRAPPC9	HP:0000750	Delayed speech and language development	4/6	OMIM:613192
83696	TRAPPC9	HP:0000851	Congenital hypothyroidism	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0040196	Mild microcephaly	1/3	OMIM:613192
83696	TRAPPC9	HP:0000286	Epicanthus	HP:0040282	ORPHA:352530
83696	TRAPPC9	HP:0000252	Microcephaly	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0000248	Brachycephaly	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0000204	Cleft upper lip	1/3	OMIM:613192
83696	TRAPPC9	HP:0001513	Obesity	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:352530
83696	TRAPPC9	HP:0000341	Narrow forehead	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0000319	Smooth philtrum	2/3	OMIM:613192
83696	TRAPPC9	HP:0000316	Hypertelorism	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0000316	Hypertelorism	1/3	OMIM:613192
83696	TRAPPC9	HP:0000311	Round face	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0000322	Short philtrum	2/3	OMIM:613192
83696	TRAPPC9	HP:0000470	Short neck	2/3	OMIM:613192
83696	TRAPPC9	HP:0012443	Abnormal brain morphology	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0000431	Wide nasal bridge	HP:0040283	OMIM:613192
83696	TRAPPC9	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:352530
83696	TRAPPC9	HP:0005484	Secondary microcephaly	3/3	OMIM:613192
83696	TRAPPC9	HP:0011228	Horizontal eyebrow	HP:0040282	ORPHA:352530
83700	JAM3	HP:0001250	Seizure	3/3	OMIM:613730
83700	JAM3	HP:0001263	Global developmental delay	-	OMIM:613730
83700	JAM3	HP:0001257	Spasticity	3/3	OMIM:613730
83700	JAM3	HP:0003811	Neonatal death	2/6	OMIM:613730
83700	JAM3	HP:0000086	Ectopic kidney	2/4	OMIM:613730
83700	JAM3	HP:0001347	Hyperreflexia	-	OMIM:613730
83700	JAM3	HP:0000028	Cryptorchidism	1/3	OMIM:613730
83700	JAM3	HP:0000007	Autosomal recessive inheritance	-	OMIM:613730
83700	JAM3	HP:0001321	Cerebellar hypoplasia	1/6	OMIM:613730
83700	JAM3	HP:0002119	Ventriculomegaly	-	OMIM:613730
83700	JAM3	HP:0003577	Congenital onset	6/6	OMIM:613730
83700	JAM3	HP:0002240	Hepatomegaly	3/3	OMIM:613730
83700	JAM3	HP:0000800	Cystic renal dysplasia	1/3	OMIM:613730
83700	JAM3	HP:0001522	Death in infancy	1/6	OMIM:613730
83700	JAM3	HP:0001629	Ventricular septal defect	1/6	OMIM:613730
83700	JAM3	HP:0005484	Secondary microcephaly	3/3	OMIM:613730
83700	JAM3	HP:0000518	Cataract	6/6	OMIM:613730
83700	JAM3	HP:0000568	Microphthalmia	1/6	OMIM:613730
83700	JAM3	HP:0000543	Optic disc pallor	1/6	OMIM:613730
83706	FERMT3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
83706	FERMT3	HP:0001293	Cranial nerve compression	-	OMIM:131300
83706	FERMT3	HP:0100806	Sepsis	-	OMIM:612840
83706	FERMT3	HP:0001252	Hypotonia	2/7	OMIM:615777
83706	FERMT3	HP:0001249	Intellectual disability	5/7	OMIM:615777
83706	FERMT3	HP:0001263	Global developmental delay	-	OMIM:615777
83706	FERMT3	HP:0002515	Waddling gait	54/102	OMIM:131300
83706	FERMT3	HP:0001382	Joint hypermobility	-	OMIM:615777
83706	FERMT3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
83706	FERMT3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
83706	FERMT3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
83706	FERMT3	HP:0001324	Muscle weakness	40/96	OMIM:131300
83706	FERMT3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
83706	FERMT3	HP:0000007	Autosomal recessive inheritance	-	OMIM:612840
83706	FERMT3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
83706	FERMT3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
83706	FERMT3	HP:0002650	Scoliosis	12/14	OMIM:131300
83706	FERMT3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
83706	FERMT3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
83706	FERMT3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
83706	FERMT3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
83706	FERMT3	HP:0000175	Cleft palate	2/7	OMIM:615777
83706	FERMT3	HP:0001482	Subcutaneous nodule	-	OMIM:612840
83706	FERMT3	HP:0001433	Hepatosplenomegaly	HP:0040282	OMIM:612840
83706	FERMT3	HP:0002733	Abnormal lymph node morphology	-	OMIM:612840
83706	FERMT3	HP:0002718	Recurrent bacterial infections	HP:0040282	OMIM:612840
83706	FERMT3	HP:0003388	Easy fatigability	36/76	OMIM:131300
83706	FERMT3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
83706	FERMT3	HP:0003593	Infantile onset	-	OMIM:612840
83706	FERMT3	HP:0002240	Hepatomegaly	-	OMIM:612840
83706	FERMT3	HP:0003510	Severe short stature	7/7	OMIM:615777
83706	FERMT3	HP:0002315	Headache	-	OMIM:131300
83706	FERMT3	HP:0004976	Knee dislocation	6/7	OMIM:615777
83706	FERMT3	HP:0009803	Short phalanx of finger	-	OMIM:615777
83706	FERMT3	HP:0009763	Limb pain	63/92	OMIM:131300
83706	FERMT3	HP:0003621	Juvenile onset	-	OMIM:131300
83706	FERMT3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
83706	FERMT3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
83706	FERMT3	HP:6001056	Out-toeing	-	OMIM:131300
83706	FERMT3	HP:0000651	Diplopia	-	OMIM:131300
83706	FERMT3	HP:0001978	Extramedullary hematopoiesis	HP:0040284	OMIM:612840
83706	FERMT3	HP:0001974	Increased total leukocyte count	-	OMIM:612840
83706	FERMT3	HP:0001956	Truncal obesity	2/7	OMIM:615777
83706	FERMT3	HP:0001903	Anemia	-	OMIM:612840
83706	FERMT3	HP:0001903	Anemia	HP:0040283	OMIM:131300
83706	FERMT3	HP:0010049	Short metacarpal	-	OMIM:615777
83706	FERMT3	HP:0000678	Dental crowding	-	OMIM:615777
83706	FERMT3	HP:0000670	Carious teeth	-	OMIM:131300
83706	FERMT3	HP:0011304	Broad thumb	2/7	OMIM:615777
83706	FERMT3	HP:0000668	Hypodontia	-	OMIM:615777
83706	FERMT3	HP:0000664	Synophrys	-	OMIM:615777
83706	FERMT3	HP:0004396	Poor appetite	-	OMIM:131300
83706	FERMT3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
83706	FERMT3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
83706	FERMT3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
83706	FERMT3	HP:0003026	Short long bone	7/7	OMIM:615777
83706	FERMT3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
83706	FERMT3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
83706	FERMT3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
83706	FERMT3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
83706	FERMT3	HP:0000750	Delayed speech and language development	-	OMIM:615777
83706	FERMT3	HP:0011461	Fetal onset	7/7	OMIM:615777
83706	FERMT3	HP:0000774	Narrow chest	2/7	OMIM:615777
83706	FERMT3	HP:0000926	Platyspondyly	1/7	OMIM:615777
83706	FERMT3	HP:0003180	Flat acetabular roof	-	OMIM:615777
83706	FERMT3	HP:0004482	Relative macrocephaly	-	OMIM:615777
83706	FERMT3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
83706	FERMT3	HP:0000823	Delayed puberty	-	OMIM:131300
83706	FERMT3	HP:0000894	Short clavicles	-	OMIM:615777
83706	FERMT3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
83706	FERMT3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
83706	FERMT3	HP:0000967	Petechiae	-	OMIM:612840
83706	FERMT3	HP:0000286	Epicanthus	1/7	OMIM:615777
83706	FERMT3	HP:0000280	Coarse facial features	2/7	OMIM:615777
83706	FERMT3	HP:0002827	Hip dislocation	3/7	OMIM:615777
83706	FERMT3	HP:0000252	Microcephaly	-	OMIM:615777
83706	FERMT3	HP:0001581	Recurrent skin infections	-	OMIM:612840
83706	FERMT3	HP:0002857	Genu valgum	-	OMIM:131300
83706	FERMT3	HP:0001533	Slender build	-	OMIM:131300
83706	FERMT3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
83706	FERMT3	HP:0007807	Optic nerve compression	-	OMIM:131300
83706	FERMT3	HP:0012368	Flat face	7/7	OMIM:615777
83706	FERMT3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
83706	FERMT3	HP:0000365	Hearing impairment	10/67	OMIM:131300
83706	FERMT3	HP:0000343	Long philtrum	1/7	OMIM:615777
83706	FERMT3	HP:0011002	Osteopetrosis	HP:0040283	OMIM:612840
83706	FERMT3	HP:0011001	Increased bone mineral density	-	OMIM:131300
83706	FERMT3	HP:0000311	Round face	2/7	OMIM:615777
83706	FERMT3	HP:0002970	Genu varum	-	OMIM:615777
83706	FERMT3	HP:0000303	Mandibular prognathia	-	OMIM:131300
83706	FERMT3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
83706	FERMT3	HP:0000470	Short neck	1/7	OMIM:615777
83706	FERMT3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
83706	FERMT3	HP:0001763	Pes planus	1/7	OMIM:615777
83706	FERMT3	HP:0001744	Splenomegaly	HP:0040282	OMIM:612840
83706	FERMT3	HP:0000421	Epistaxis	HP:0040283	OMIM:612840
83706	FERMT3	HP:0001840	Metatarsus adductus	-	OMIM:615777
83706	FERMT3	HP:0000520	Proptosis	2/4	OMIM:131300
83706	FERMT3	HP:0000520	Proptosis	7/7	OMIM:615777
83706	FERMT3	HP:0000592	Blue sclerae	2/7	OMIM:615777
83706	FERMT3	HP:0001892	Abnormal bleeding	-	OMIM:612840
83706	FERMT3	HP:0001872	Abnormality of thrombocytes	HP:0040282	OMIM:612840
83706	FERMT3	HP:0012531	Pain	-	OMIM:612840
83706	FERMT3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
83706	FERMT3	HP:0012514	Lower limb pain	4/4	OMIM:131300
83715	ESPN	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
83715	ESPN	HP:0008568	Vestibular areflexia	-	OMIM:609006
83715	ESPN	HP:0001251	Ataxia	HP:0040281	ORPHA:231169
83715	ESPN	HP:0001249	Intellectual disability	HP:0040281	ORPHA:231169
83715	ESPN	HP:0001263	Global developmental delay	HP:0040281	ORPHA:231169
83715	ESPN	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:231169
83715	ESPN	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
83715	ESPN	HP:0000007	Autosomal recessive inheritance	-	OMIM:609006
83715	ESPN	HP:0000007	Autosomal recessive inheritance	-	OMIM:618632
83715	ESPN	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
83715	ESPN	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:231169
83715	ESPN	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
83715	ESPN	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
83715	ESPN	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:231169
83715	ESPN	HP:0100753	Schizophrenia	HP:0040282	ORPHA:231169
83715	ESPN	HP:0008499	High hypermetropia	HP:0040282	ORPHA:231169
83715	ESPN	HP:0003621	Juvenile onset	8/19	OMIM:180100
83715	ESPN	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:231169
83715	ESPN	HP:0000662	Nyctalopia	5/5	OMIM:618632
83715	ESPN	HP:0000662	Nyctalopia	26/28	OMIM:180100
83715	ESPN	HP:0000662	Nyctalopia	HP:0040281	ORPHA:231169
83715	ESPN	HP:0000738	Hallucinations	HP:0040283	ORPHA:231169
83715	ESPN	HP:0000739	Anxiety	HP:0040283	ORPHA:231169
83715	ESPN	HP:0000716	Depression	HP:0040283	ORPHA:231169
83715	ESPN	HP:0011463	Childhood onset	3/19	OMIM:180100
83715	ESPN	HP:0011462	Young adult onset	8/19	OMIM:180100
83715	ESPN	HP:0011510	Drusen	5/5	OMIM:618632
83715	ESPN	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
83715	ESPN	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:231169
83715	ESPN	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
83715	ESPN	HP:0000399	Prelingual sensorineural hearing impairment	5/5	OMIM:618632
83715	ESPN	HP:0012377	Hemianopia	HP:0040281	ORPHA:231169
83715	ESPN	HP:0000375	Abnormal cochlea morphology	HP:0040281	ORPHA:231169
83715	ESPN	HP:0000407	Sensorineural hearing impairment	-	OMIM:609006
83715	ESPN	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:231169
83715	ESPN	HP:0001712	Left ventricular hypertrophy	2/5	OMIM:618632
83715	ESPN	HP:0001751	Abnormal vestibular function	5/5	OMIM:618632
83715	ESPN	HP:0001756	Vestibular hyporeflexia	HP:0040281	ORPHA:231169
83715	ESPN	HP:0000518	Cataract	HP:0040282	ORPHA:231169
83715	ESPN	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
83715	ESPN	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:231169
83715	ESPN	HP:0000575	Scotoma	HP:0040281	ORPHA:231169
83715	ESPN	HP:0000575	Scotoma	5/18	OMIM:180100
83715	ESPN	HP:0000572	Visual loss	HP:0040281	ORPHA:231169
83715	ESPN	HP:0000543	Optic disc pallor	4/5	OMIM:618632
83715	ESPN	HP:0000543	Optic disc pallor	1/1	OMIM:180100
83715	ESPN	HP:0000545	Myopia	-	OMIM:180100
83723	TLCD3B	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
83723	TLCD3B	HP:0025159	Hypoautofluorescent retinal lesion	2/4	OMIM:619531
83723	TLCD3B	HP:0000007	Autosomal recessive inheritance	-	OMIM:619531
83723	TLCD3B	HP:0007663	Reduced visual acuity	4/4	OMIM:619531
83723	TLCD3B	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
83723	TLCD3B	HP:0003621	Juvenile onset	1/4	OMIM:619531
83723	TLCD3B	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
83723	TLCD3B	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
83723	TLCD3B	HP:0000613	Photophobia	2/4	OMIM:619531
83723	TLCD3B	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
83723	TLCD3B	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
83723	TLCD3B	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
83723	TLCD3B	HP:0030629	Perifoveal ring of hyperautofluorescence	1/4	OMIM:619531
83723	TLCD3B	HP:0030631	Hyperautofluorescent macular lesion	1/4	OMIM:619531
83723	TLCD3B	HP:0011462	Young adult onset	3/4	OMIM:619531
83723	TLCD3B	HP:0011504	Bull's eye maculopathy	1/4	OMIM:619531
83723	TLCD3B	HP:0030825	Absent foveal reflex	1/4	OMIM:619531
83723	TLCD3B	HP:0030844	Undetectable pattern electroretinogram	1/4	OMIM:619531
83723	TLCD3B	HP:0007722	Retinal pigment epithelial atrophy	1/4	OMIM:619531
83723	TLCD3B	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
83723	TLCD3B	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
83723	TLCD3B	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
83723	TLCD3B	HP:0007843	Attenuation of retinal blood vessels	1/4	OMIM:619531
83723	TLCD3B	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
83723	TLCD3B	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
83723	TLCD3B	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
83723	TLCD3B	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
83723	TLCD3B	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
83737	ITCH	HP:0001290	Generalized hypotonia	6/10	OMIM:613385
83737	ITCH	HP:0001270	Motor delay	1/1	OMIM:613385
83737	ITCH	HP:0001252	Hypotonia	1/1	OMIM:613385
83737	ITCH	HP:0001263	Global developmental delay	11/11	OMIM:613385
83737	ITCH	HP:0001263	Global developmental delay	HP:0040281	ORPHA:228426
83737	ITCH	HP:0032342	Reduced forced expiratory volume in one second	1/1	OMIM:613385
83737	ITCH	HP:0025379	Anti-thyroid peroxidase antibody positivity	HP:0040282	ORPHA:228426
83737	ITCH	HP:0001394	Cirrhosis	HP:0040283	ORPHA:228426
83737	ITCH	HP:0001377	Limited elbow extension	1/1	OMIM:613385
83737	ITCH	HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	HP:0040283	ORPHA:228426
83737	ITCH	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:613385
83737	ITCH	HP:0000007	Autosomal recessive inheritance	-	OMIM:613385
83737	ITCH	HP:0031104	Insulin receptor antibody positivity	HP:0040283	ORPHA:228426
83737	ITCH	HP:0012115	Hepatitis	3/10	OMIM:613385
83737	ITCH	HP:0012115	Hepatitis	HP:0040282	ORPHA:228426
83737	ITCH	HP:0008947	Floppy infant	HP:0040282	ORPHA:228426
83737	ITCH	HP:0001433	Hepatosplenomegaly	HP:0040281	ORPHA:228426
83737	ITCH	HP:0001409	Portal hypertension	1/1	OMIM:613385
83737	ITCH	HP:0001409	Portal hypertension	HP:0040283	ORPHA:228426
83737	ITCH	HP:0002750	Delayed skeletal maturation	1/1	OMIM:613385
83737	ITCH	HP:0002719	Recurrent infections	HP:0040282	ORPHA:228426
83737	ITCH	HP:0002720	Decreased circulating IgA concentration	1/1	OMIM:613385
83737	ITCH	HP:0002020	Gastroesophageal reflux	1/1	OMIM:613385
83737	ITCH	HP:0002028	Chronic diarrhea	3/11	OMIM:613385
83737	ITCH	HP:0002007	Frontal bossing	HP:0040283	ORPHA:228426
83737	ITCH	HP:0002007	Frontal bossing	11/11	OMIM:613385
83737	ITCH	HP:0011800	Midface retrusion	HP:0040283	ORPHA:228426
83737	ITCH	HP:0011800	Midface retrusion	-	OMIM:613385
83737	ITCH	HP:0003453	Antineutrophil antibody positivity	HP:0040283	ORPHA:228426
83737	ITCH	HP:0002242	Abnormal intestine morphology	HP:0040283	ORPHA:228426
83737	ITCH	HP:0002240	Hepatomegaly	9/10	OMIM:613385
83737	ITCH	HP:0002205	Recurrent respiratory infections	1/1	OMIM:613385
83737	ITCH	HP:0100651	Type I diabetes mellitus	2/11	OMIM:613385
83737	ITCH	HP:0100651	Type I diabetes mellitus	HP:0040283	ORPHA:228426
83737	ITCH	HP:0100646	Thyroiditis	HP:0040282	ORPHA:228426
83737	ITCH	HP:0009765	Low hanging columella	1/1	OMIM:613385
83737	ITCH	HP:0001971	Hypersplenism	1/1	OMIM:613385
83737	ITCH	HP:0001971	Hypersplenism	HP:0040282	ORPHA:228426
83737	ITCH	HP:0001904	Autoimmune neutropenia	HP:0040283	ORPHA:228426
83737	ITCH	HP:0001999	Abnormal facial shape	10/10	OMIM:613385
83737	ITCH	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:228426
83737	ITCH	HP:0004322	Short stature	2/2	OMIM:613385
83737	ITCH	HP:0005659	Thoracic kyphoscoliosis	1/1	OMIM:613385
83737	ITCH	HP:0000767	Pectus excavatum	1/1	OMIM:613385
83737	ITCH	HP:0011471	Gastrostomy tube feeding in infancy	6/10	OMIM:613385
83737	ITCH	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040282	ORPHA:228426
83737	ITCH	HP:0003100	Slender long bone	1/1	OMIM:613385
83737	ITCH	HP:0004482	Relative macrocephaly	10/11	OMIM:613385
83737	ITCH	HP:0004482	Relative macrocephaly	HP:0040281	ORPHA:228426
83737	ITCH	HP:0000872	Hashimoto thyroiditis	1/1	OMIM:613385
83737	ITCH	HP:0000821	Hypothyroidism	4/10	OMIM:613385
83737	ITCH	HP:0000821	Hypothyroidism	HP:0040282	ORPHA:228426
83737	ITCH	HP:0004570	Increased vertebral height	1/1	OMIM:613385
83737	ITCH	HP:0003262	Anti-smooth muscle antibody positivity	HP:0040283	ORPHA:228426
83737	ITCH	HP:0000954	Single transverse palmar crease	1/1	OMIM:613385
83737	ITCH	HP:0000268	Dolichocephaly	-	OMIM:613385
83737	ITCH	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:228426
83737	ITCH	HP:0000269	Prominent occiput	-	OMIM:613385
83737	ITCH	HP:0000269	Prominent occiput	HP:0040283	ORPHA:228426
83737	ITCH	HP:0030084	Clinodactyly	-	OMIM:613385
83737	ITCH	HP:0030084	Clinodactyly	HP:0040283	ORPHA:228426
83737	ITCH	HP:0001531	Failure to thrive in infancy	10/10	OMIM:613385
83737	ITCH	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:228426
83737	ITCH	HP:0012385	Camptodactyly	11/11	OMIM:613385
83737	ITCH	HP:0012385	Camptodactyly	HP:0040283	ORPHA:228426
83737	ITCH	HP:0006554	Acute hepatic failure	HP:0040283	ORPHA:228426
83737	ITCH	HP:0006528	Chronic lung disease	HP:0040281	ORPHA:228426
83737	ITCH	HP:0006528	Chronic lung disease	9/10	OMIM:613385
83737	ITCH	HP:0002938	Lumbar hyperlordosis	1/1	OMIM:613385
83737	ITCH	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:228426
83737	ITCH	HP:0000358	Posteriorly rotated ears	-	OMIM:613385
83737	ITCH	HP:0000369	Low-set ears	1/1	OMIM:613385
83737	ITCH	HP:0000316	Hypertelorism	1/1	OMIM:613385
83737	ITCH	HP:0000331	Short chin	11/11	OMIM:613385
83737	ITCH	HP:0000331	Short chin	HP:0040283	ORPHA:228426
83737	ITCH	HP:0030151	Cholangitis	HP:0040283	ORPHA:228426
83737	ITCH	HP:0000322	Short philtrum	1/1	OMIM:613385
83737	ITCH	HP:0002960	Autoimmunity	7/11	OMIM:613385
83737	ITCH	HP:0002960	Autoimmunity	HP:0040282	ORPHA:228426
83737	ITCH	HP:0000453	Choanal atresia	1/1	OMIM:613385
83737	ITCH	HP:0000453	Choanal atresia	HP:0040283	ORPHA:228426
83737	ITCH	HP:0000444	Convex nasal ridge	1/1	OMIM:613385
83737	ITCH	HP:0001744	Splenomegaly	-	OMIM:613385
83737	ITCH	HP:0000520	Proptosis	11/11	OMIM:613385
83737	ITCH	HP:0000520	Proptosis	HP:0040282	ORPHA:228426
83737	ITCH	HP:0001822	Hallux valgus	1/1	OMIM:613385
83737	ITCH	HP:0000508	Ptosis	HP:0040283	ORPHA:228426
83737	ITCH	HP:0000508	Ptosis	1/1	OMIM:613385
83737	ITCH	HP:0001876	Pancytopenia	1/1	OMIM:613385
83737	ITCH	HP:0001876	Pancytopenia	HP:0040283	ORPHA:228426
83844	USP26	HP:0033525	Absent sperm axoneme central pair complex	2/2	OMIM:301101
83844	USP26	HP:0000032	Abnormal male external genitalia morphology	0/2	OMIM:301101
83844	USP26	HP:0032559	Short sperm flagella	2/2	OMIM:301101
83844	USP26	HP:0032560	Coiled sperm flagella	2/2	OMIM:301101
83844	USP26	HP:0032561	Microcephalic sperm head	2/2	OMIM:301101
83844	USP26	HP:0001417	X-linked inheritance	-	OMIM:301101
83844	USP26	HP:0034011	Reduced progressive sperm motility	2/2	OMIM:301101
83844	USP26	HP:0011462	Young adult onset	2/2	OMIM:301101
83844	USP26	HP:0003251	Male infertility	2/2	OMIM:301101
83844	USP26	HP:0012207	Reduced sperm motility	1/2	OMIM:301101
83844	USP26	HP:0002837	Recurrent bronchitis	0/2	OMIM:301101
83844	USP26	HP:0006532	Recurrent pneumonia	0/2	OMIM:301101
83844	USP26	HP:0000403	Recurrent otitis media	0/2	OMIM:301101
83854	ANGPTL6	HP:0001123	Visual field defect	HP:0040282	ORPHA:231160
83854	ANGPTL6	HP:0001269	Hemiparesis	HP:0040282	ORPHA:231160
83854	ANGPTL6	HP:0001250	Seizure	HP:0040282	ORPHA:231160
83854	ANGPTL6	HP:0002647	Aortic dissection	HP:0040283	ORPHA:231160
83854	ANGPTL6	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:231160
83854	ANGPTL6	HP:0002621	Atherosclerosis	HP:0040282	ORPHA:231160
83854	ANGPTL6	HP:0002138	Subarachnoid hemorrhage	HP:0040283	ORPHA:231160
83854	ANGPTL6	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:231160
83854	ANGPTL6	HP:0007029	Cerebral berry aneurysm	HP:0040280	ORPHA:231160
83854	ANGPTL6	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:231160
83854	ANGPTL6	HP:0002326	Transient ischemic attack	HP:0040282	ORPHA:231160
83854	ANGPTL6	HP:0000822	Hypertension	HP:0040282	ORPHA:231160
83854	ANGPTL6	HP:0040197	Encephalomalacia	HP:0040283	ORPHA:231160
83854	ANGPTL6	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:231160
83854	ANGPTL6	HP:0012518	Abnormal circle of Willis morphology	HP:0040282	ORPHA:231160
83861	RSPH3	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
83861	RSPH3	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
83861	RSPH3	HP:0001217	Clubbing	HP:0040283	ORPHA:244
83861	RSPH3	HP:0000007	Autosomal recessive inheritance	-	OMIM:616481
83861	RSPH3	HP:0002643	Neonatal respiratory distress	3/5	OMIM:616481
83861	RSPH3	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
83861	RSPH3	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
83861	RSPH3	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
83861	RSPH3	HP:0031245	Productive cough	HP:0040282	ORPHA:244
83861	RSPH3	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
83861	RSPH3	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
83861	RSPH3	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
83861	RSPH3	HP:0002110	Bronchiectasis	5/5	OMIM:616481
83861	RSPH3	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
83861	RSPH3	HP:0008222	Female infertility	HP:0040283	ORPHA:244
83861	RSPH3	HP:0003577	Congenital onset	-	OMIM:616481
83861	RSPH3	HP:0002257	Chronic rhinitis	5/5	OMIM:616481
83861	RSPH3	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
83861	RSPH3	HP:0002205	Recurrent respiratory infections	-	OMIM:616481
83861	RSPH3	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
83861	RSPH3	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
83861	RSPH3	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
83861	RSPH3	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
83861	RSPH3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
83861	RSPH3	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
83861	RSPH3	HP:0000789	Infertility	2/5	OMIM:616481
83861	RSPH3	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
83861	RSPH3	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
83861	RSPH3	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
83861	RSPH3	HP:0030828	Wheezing	HP:0040283	ORPHA:244
83861	RSPH3	HP:0003251	Male infertility	HP:0040282	ORPHA:244
83861	RSPH3	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
83861	RSPH3	HP:0033036	Decreased nasal nitric oxide	3/3	OMIM:616481
83861	RSPH3	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
83861	RSPH3	HP:0012265	Ciliary dyskinesia	-	OMIM:616481
83861	RSPH3	HP:0012267	Absent respiratory ciliary axoneme radial spokes	-	OMIM:616481
83861	RSPH3	HP:0012263	Immotile cilia	-	OMIM:616481
83861	RSPH3	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
83861	RSPH3	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
83861	RSPH3	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
83861	RSPH3	HP:0006510	Chronic pulmonary obstruction	1/5	OMIM:616481
83861	RSPH3	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
83861	RSPH3	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
83861	RSPH3	HP:0001696	Situs inversus totalis	0/5	OMIM:616481
83861	RSPH3	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
83861	RSPH3	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
83861	RSPH3	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
83861	RSPH3	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
83861	RSPH3	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
83861	RSPH3	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
83861	RSPH3	HP:0000403	Recurrent otitis media	5/5	OMIM:616481
83861	RSPH3	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
83861	RSPH3	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
83861	RSPH3	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
83861	RSPH3	HP:0011109	Chronic sinusitis	5/5	OMIM:616481
83861	RSPH3	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
83861	RSPH3	HP:0001746	Asplenia	HP:0040284	ORPHA:244
83861	RSPH3	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
83861	RSPH3	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
83861	RSPH3	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
83861	RSPH3	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
83861	RSPH3	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
83871	RAB34	HP:0001177	Preaxial hand polydactyly	4/4	OMIM:620718
83871	RAB34	HP:0001162	Postaxial hand polydactyly	2/5	OMIM:620718
83871	RAB34	HP:0010880	Increased nuchal translucency	1/1	OMIM:620718
83871	RAB34	HP:0008551	Microtia	1/4	OMIM:620718
83871	RAB34	HP:0001274	Agenesis of corpus callosum	2/4	OMIM:620718
83871	RAB34	HP:0006159	Mesoaxial hand polydactyly	2/4	OMIM:620718
83871	RAB34	HP:0000007	Autosomal recessive inheritance	-	OMIM:620718
83871	RAB34	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:620718
83871	RAB34	HP:0000180	Lobulated tongue	1/4	OMIM:620718
83871	RAB34	HP:0000175	Cleft palate	5/5	OMIM:620718
83871	RAB34	HP:0410030	Cleft lip	2/5	OMIM:620718
83871	RAB34	HP:0002023	Anal atresia	2/4	OMIM:620718
83871	RAB34	HP:0033183	Bilobed right lung	1/4	OMIM:620718
83871	RAB34	HP:0000664	Synophrys	1/4	OMIM:620718
83871	RAB34	HP:0034199	Late first trimester onset	1/1	OMIM:620718
83871	RAB34	HP:0034198	Second trimester onset	4/4	OMIM:620718
83871	RAB34	HP:0010112	Mesoaxial foot polydactyly	2/4	OMIM:620718
83871	RAB34	HP:0003097	Short femur	1/4	OMIM:620718
83871	RAB34	HP:0000278	Retrognathia	1/4	OMIM:620718
83871	RAB34	HP:0000262	Turricephaly	1/4	OMIM:620718
83871	RAB34	HP:0000256	Macrocephaly	1/4	OMIM:620718
83871	RAB34	HP:0001561	Polyhydramnios	1/4	OMIM:620718
83871	RAB34	HP:0000369	Low-set ears	2/5	OMIM:620718
83871	RAB34	HP:0000337	Broad forehead	1/4	OMIM:620718
83871	RAB34	HP:0000347	Micrognathia	3/5	OMIM:620718
83871	RAB34	HP:0000316	Hypertelorism	2/4	OMIM:620718
83871	RAB34	HP:0001660	Truncus arteriosus	1/4	OMIM:620718
83871	RAB34	HP:0001629	Ventricular septal defect	1/4	OMIM:620718
83871	RAB34	HP:0006695	Atrioventricular canal defect	2/5	OMIM:620718
83871	RAB34	HP:0000431	Wide nasal bridge	1/4	OMIM:620718
83871	RAB34	HP:0001841	Preaxial foot polydactyly	4/4	OMIM:620718
83871	RAB34	HP:0001830	Postaxial foot polydactyly	2/5	OMIM:620718
83872	HMCN1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
83872	HMCN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
83872	HMCN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
83872	HMCN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:603075
83872	HMCN1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
83872	HMCN1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
83872	HMCN1	HP:0003584	Late onset	7/7	OMIM:603075
83872	HMCN1	HP:0003621	Juvenile onset	8/19	OMIM:180100
83872	HMCN1	HP:0000608	Macular degeneration	18/20	OMIM:603075
83872	HMCN1	HP:0030499	Macular drusen	10/10	OMIM:603075
83872	HMCN1	HP:0000662	Nyctalopia	26/28	OMIM:180100
83872	HMCN1	HP:0012643	Foveal hypopigmentation	-	OMIM:603075
83872	HMCN1	HP:0011463	Childhood onset	3/19	OMIM:180100
83872	HMCN1	HP:0011462	Young adult onset	8/19	OMIM:180100
83872	HMCN1	HP:0011506	Choroidal neovascularization	HP:0040284	OMIM:603075
83872	HMCN1	HP:0025574	Macular hemorrhage	HP:0040283	OMIM:603075
83872	HMCN1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
83872	HMCN1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
83872	HMCN1	HP:0031609	Geographic atrophy	5/10	OMIM:603075
83872	HMCN1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
83872	HMCN1	HP:0000529	Progressive visual loss	-	OMIM:603075
83872	HMCN1	HP:0000575	Scotoma	5/18	OMIM:180100
83872	HMCN1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
83872	HMCN1	HP:0000545	Myopia	-	OMIM:180100
83879	CDCA7	HP:0001270	Motor delay	2/4	OMIM:616910
83879	CDCA7	HP:0001249	Intellectual disability	2/5	OMIM:616910
83879	CDCA7	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2268
83879	CDCA7	HP:0001263	Global developmental delay	-	OMIM:616910
83879	CDCA7	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2268
83879	CDCA7	HP:0000047	Hypospadias	-	OMIM:616910
83879	CDCA7	HP:0000028	Cryptorchidism	-	OMIM:616910
83879	CDCA7	HP:0000007	Autosomal recessive inheritance	-	OMIM:616910
83879	CDCA7	HP:0001334	Communicating hydrocephalus	HP:0040282	ORPHA:2268
83879	CDCA7	HP:0000158	Macroglossia	HP:0040283	ORPHA:2268
83879	CDCA7	HP:0002719	Recurrent infections	5/5	OMIM:616910
83879	CDCA7	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:2268
83879	CDCA7	HP:0002024	Malabsorption	HP:0040282	ORPHA:2268
83879	CDCA7	HP:0010442	Polydactyly	-	OMIM:616910
83879	CDCA7	HP:0003577	Congenital onset	-	OMIM:616910
83879	CDCA7	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:2268
83879	CDCA7	HP:0010808	Protruding tongue	HP:0040283	ORPHA:2268
83879	CDCA7	HP:0001903	Anemia	HP:0040282	ORPHA:2268
83879	CDCA7	HP:0004322	Short stature	HP:0040281	ORPHA:2268
83879	CDCA7	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:2268
83879	CDCA7	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:616910
83879	CDCA7	HP:0004432	Agammaglobulinemia	-	OMIM:616910
83879	CDCA7	HP:0003196	Short nose	-	OMIM:616910
83879	CDCA7	HP:0003175	Hypoplastic ischia	-	OMIM:616910
83879	CDCA7	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:2268
83879	CDCA7	HP:0000286	Epicanthus	-	OMIM:616910
83879	CDCA7	HP:0000286	Epicanthus	HP:0040283	ORPHA:2268
83879	CDCA7	HP:0000256	Macrocephaly	HP:0040282	ORPHA:2268
83879	CDCA7	HP:0000252	Microcephaly	-	OMIM:616910
83879	CDCA7	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2268
83879	CDCA7	HP:0002846	Abnormal B cell morphology	0/5	OMIM:616910
83879	CDCA7	HP:0001511	Intrauterine growth retardation	-	OMIM:616910
83879	CDCA7	HP:0012368	Flat face	HP:0040283	ORPHA:2268
83879	CDCA7	HP:0012368	Flat face	-	OMIM:616910
83879	CDCA7	HP:0000369	Low-set ears	-	OMIM:616910
83879	CDCA7	HP:0000369	Low-set ears	HP:0040283	ORPHA:2268
83879	CDCA7	HP:0000347	Micrognathia	HP:0040281	ORPHA:2268
83879	CDCA7	HP:0000316	Hypertelorism	-	OMIM:616910
83879	CDCA7	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2268
83879	CDCA7	HP:0005374	Cellular immunodeficiency	HP:0040282	ORPHA:2268
83879	CDCA7	HP:0000403	Recurrent otitis media	4/5	OMIM:616910
83879	CDCA7	HP:0000405	Conductive hearing impairment	-	OMIM:616910
83879	CDCA7	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:2268
83879	CDCA7	HP:0005280	Depressed nasal bridge	-	OMIM:616910
83879	CDCA7	HP:0000486	Strabismus	-	OMIM:616910
83879	CDCA7	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:2268
83879	CDCA7	HP:0001874	Abnormality of neutrophils	HP:0040282	ORPHA:2268
83893	SPATA16	HP:0000007	Autosomal recessive inheritance	-	OMIM:102530
83893	SPATA16	HP:0031136	Decreased acrosin in sperm head	-	OMIM:102530
83893	SPATA16	HP:0003251	Male infertility	3/3	OMIM:102530
83893	SPATA16	HP:0012205	Globozoospermia	3/3	OMIM:102530
83894	TTC29	HP:0000007	Autosomal recessive inheritance	-	OMIM:618745
83894	TTC29	HP:0032558	Absent sperm flagella	-	OMIM:618745
83894	TTC29	HP:0032559	Short sperm flagella	-	OMIM:618745
83894	TTC29	HP:0032560	Coiled sperm flagella	-	OMIM:618745
83894	TTC29	HP:0032561	Microcephalic sperm head	-	OMIM:618745
83894	TTC29	HP:0032562	Tapered sperm head	-	OMIM:618745
83894	TTC29	HP:0003251	Male infertility	5/5	OMIM:618745
83894	TTC29	HP:0012207	Reduced sperm motility	5/5	OMIM:618745
83932	SPRTN	HP:0000007	Autosomal recessive inheritance	-	OMIM:616200
83932	SPRTN	HP:0000135	Hypogonadism	0/3	OMIM:616200
83932	SPRTN	HP:0001402	Hepatocellular carcinoma	3/3	OMIM:616200
83932	SPRTN	HP:0002750	Delayed skeletal maturation	3/3	OMIM:616200
83932	SPRTN	HP:0002007	Frontal bossing	-	OMIM:616200
83932	SPRTN	HP:0002216	Premature graying of hair	1/3	OMIM:616200
83932	SPRTN	HP:0200021	Down-sloping shoulders	-	OMIM:616200
83932	SPRTN	HP:0004325	Decreased body weight	3/3	OMIM:616200
83932	SPRTN	HP:0004322	Short stature	1/3	OMIM:616200
83932	SPRTN	HP:0005659	Thoracic kyphoscoliosis	-	OMIM:616200
83932	SPRTN	HP:0000767	Pectus excavatum	-	OMIM:616200
83932	SPRTN	HP:0009125	Lipodystrophy	2/2	OMIM:616200
83932	SPRTN	HP:0003202	Skeletal muscle atrophy	2/2	OMIM:616200
83932	SPRTN	HP:0000954	Single transverse palmar crease	3/3	OMIM:616200
83932	SPRTN	HP:0000939	Osteoporosis	0/3	OMIM:616200
83932	SPRTN	HP:0008070	Sparse hair	0/3	OMIM:616200
83932	SPRTN	HP:0007787	Posterior subcapsular cataract	-	OMIM:616200
83932	SPRTN	HP:0030084	Clinodactyly	-	OMIM:616200
83932	SPRTN	HP:0000347	Micrognathia	3/3	OMIM:616200
83932	SPRTN	HP:0002987	Elbow flexion contracture	-	OMIM:616200
83932	SPRTN	HP:0000325	Triangular face	3/3	OMIM:616200
83932	SPRTN	HP:0001763	Pes planus	-	OMIM:616200
83932	SPRTN	HP:0000414	Bulbous nose	-	OMIM:616200
83932	SPRTN	HP:0000426	Prominent nasal bridge	-	OMIM:616200
83932	SPRTN	HP:0000518	Cataract	1/3	OMIM:616200
83938	LRMDA	HP:0000007	Autosomal recessive inheritance	-	OMIM:615179
83938	LRMDA	HP:0007663	Reduced visual acuity	9/9	OMIM:615179
83938	LRMDA	HP:0001022	Albinism	-	OMIM:615179
83938	LRMDA	HP:0008499	High hypermetropia	4/9	OMIM:615179
83938	LRMDA	HP:0000639	Nystagmus	9/9	OMIM:615179
83938	LRMDA	HP:0000613	Photophobia	-	OMIM:615179
83938	LRMDA	HP:0012805	Iris transillumination defect	9/9	OMIM:615179
83938	LRMDA	HP:0000577	Exotropia	1/9	OMIM:615179
83938	LRMDA	HP:0000565	Esotropia	2/9	OMIM:615179
83959	SLC4A11	HP:0001131	Corneal dystrophy	-	OMIM:217700
83959	SLC4A11	HP:0001131	Corneal dystrophy	-	OMIM:613268
83959	SLC4A11	HP:0001131	Corneal dystrophy	-	OMIM:217400
83959	SLC4A11	HP:0001131	Corneal dystrophy	HP:0040281	ORPHA:1490
83959	SLC4A11	HP:0410280	Pediatric onset	-	OMIM:217400
83959	SLC4A11	HP:0012038	Corneal guttata	4/4	OMIM:613268
83959	SLC4A11	HP:0012040	Corneal stromal edema	HP:0040281	ORPHA:293603
83959	SLC4A11	HP:0000007	Autosomal recessive inheritance	-	OMIM:217700
83959	SLC4A11	HP:0000007	Autosomal recessive inheritance	-	OMIM:217400
83959	SLC4A11	HP:0000006	Autosomal dominant inheritance	-	OMIM:613268
83959	SLC4A11	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:293603
83959	SLC4A11	HP:0007663	Reduced visual acuity	-	OMIM:217400
83959	SLC4A11	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:98974
83959	SLC4A11	HP:0000639	Nystagmus	HP:0040283	ORPHA:293603
83959	SLC4A11	HP:0000639	Nystagmus	HP:0040282	ORPHA:1490
83959	SLC4A11	HP:0000622	Blurred vision	HP:0040282	ORPHA:293603
83959	SLC4A11	HP:0031792	Irregular astigmatism	HP:0040283	ORPHA:293603
83959	SLC4A11	HP:0000662	Nyctalopia	HP:0040282	ORPHA:98974
83959	SLC4A11	HP:0011488	Abnormal corneal endothelium morphology	HP:0040281	ORPHA:98974
83959	SLC4A11	HP:0011487	Increased corneal thickness	-	OMIM:217700
83959	SLC4A11	HP:0011487	Increased corneal thickness	HP:0040281	ORPHA:293603
83959	SLC4A11	HP:0011491	Reduced number of corneal endothelial cells	HP:0040281	ORPHA:98974
83959	SLC4A11	HP:0011490	Abnormal Descemet membrane morphology	-	OMIM:217700
83959	SLC4A11	HP:0011490	Abnormal Descemet membrane morphology	HP:0040281	ORPHA:293603
83959	SLC4A11	HP:0011490	Abnormal Descemet membrane morphology	HP:0040281	ORPHA:98974
83959	SLC4A11	HP:0011462	Young adult onset	-	OMIM:217400
83959	SLC4A11	HP:0030857	Eye movement-induced pain	HP:0040282	ORPHA:98974
83959	SLC4A11	HP:0000969	Edema	HP:0040281	ORPHA:98974
83959	SLC4A11	HP:0007759	Opacification of the corneal stroma	-	OMIM:217700
83959	SLC4A11	HP:0007759	Opacification of the corneal stroma	-	OMIM:217400
83959	SLC4A11	HP:0007957	Corneal opacity	HP:0040281	ORPHA:293603
83959	SLC4A11	HP:0007957	Corneal opacity	HP:0040281	ORPHA:1490
83959	SLC4A11	HP:0007957	Corneal opacity	HP:0040281	ORPHA:98974
83959	SLC4A11	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:293603
83959	SLC4A11	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:1490
83959	SLC4A11	HP:0000407	Sensorineural hearing impairment	-	OMIM:217400
83959	SLC4A11	HP:0000505	Visual impairment	HP:0040281	ORPHA:1490
83959	SLC4A11	HP:0000505	Visual impairment	-	OMIM:613268
83959	SLC4A11	HP:0000572	Visual loss	HP:0040282	ORPHA:98974
83987	CCDC8	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
83987	CCDC8	HP:0001293	Cranial nerve compression	-	OMIM:131300
83987	CCDC8	HP:0001252	Hypotonia	2/7	OMIM:615777
83987	CCDC8	HP:0001249	Intellectual disability	5/7	OMIM:615777
83987	CCDC8	HP:0001263	Global developmental delay	-	OMIM:615777
83987	CCDC8	HP:0002515	Waddling gait	54/102	OMIM:131300
83987	CCDC8	HP:0001374	Congenital hip dislocation	HP:0040283	ORPHA:2616
83987	CCDC8	HP:0001385	Hip dysplasia	2/6	OMIM:614205
83987	CCDC8	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:2616
83987	CCDC8	HP:0001382	Joint hypermobility	-	OMIM:615777
83987	CCDC8	HP:0001382	Joint hypermobility	1/6	OMIM:614205
83987	CCDC8	HP:0000047	Hypospadias	HP:0040283	ORPHA:2616
83987	CCDC8	HP:0002694	Sclerosis of skull base	-	OMIM:131300
83987	CCDC8	HP:0008897	Postnatal growth retardation	-	OMIM:615777
83987	CCDC8	HP:0008839	Hypoplastic pelvis	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
83987	CCDC8	HP:0001324	Muscle weakness	40/96	OMIM:131300
83987	CCDC8	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
83987	CCDC8	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
83987	CCDC8	HP:0000007	Autosomal recessive inheritance	-	OMIM:614205
83987	CCDC8	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
83987	CCDC8	HP:0002650	Scoliosis	HP:0040283	ORPHA:2616
83987	CCDC8	HP:0002650	Scoliosis	12/14	OMIM:131300
83987	CCDC8	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
83987	CCDC8	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
83987	CCDC8	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
83987	CCDC8	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
83987	CCDC8	HP:0000175	Cleft palate	2/7	OMIM:615777
83987	CCDC8	HP:0000144	Decreased fertility	HP:0040283	ORPHA:2616
83987	CCDC8	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0002007	Frontal bossing	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0002007	Frontal bossing	5/6	OMIM:614205
83987	CCDC8	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:2616
83987	CCDC8	HP:0003307	Hyperlordosis	2/6	OMIM:614205
83987	CCDC8	HP:0011800	Midface retrusion	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0011800	Midface retrusion	3/6	OMIM:614205
83987	CCDC8	HP:0003388	Easy fatigability	36/76	OMIM:131300
83987	CCDC8	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
83987	CCDC8	HP:0003510	Severe short stature	7/7	OMIM:615777
83987	CCDC8	HP:0003691	Scapular winging	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0002315	Headache	-	OMIM:131300
83987	CCDC8	HP:0004976	Knee dislocation	6/7	OMIM:615777
83987	CCDC8	HP:0100659	Abnormal cerebral vascular morphology	HP:0040283	ORPHA:2616
83987	CCDC8	HP:0009811	Abnormality of the elbow	HP:0040282	ORPHA:2616
83987	CCDC8	HP:0100625	Enlarged thorax	HP:0040282	ORPHA:2616
83987	CCDC8	HP:0009803	Short phalanx of finger	-	OMIM:615777
83987	CCDC8	HP:0009763	Limb pain	63/92	OMIM:131300
83987	CCDC8	HP:0003621	Juvenile onset	-	OMIM:131300
83987	CCDC8	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
83987	CCDC8	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:2616
83987	CCDC8	HP:0004209	Clinodactyly of the 5th finger	1/6	OMIM:614205
83987	CCDC8	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
83987	CCDC8	HP:6001056	Out-toeing	-	OMIM:131300
83987	CCDC8	HP:0000651	Diplopia	-	OMIM:131300
83987	CCDC8	HP:0001956	Truncal obesity	2/7	OMIM:615777
83987	CCDC8	HP:0001903	Anemia	HP:0040283	OMIM:131300
83987	CCDC8	HP:0010049	Short metacarpal	-	OMIM:615777
83987	CCDC8	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:2616
83987	CCDC8	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:2616
83987	CCDC8	HP:0000678	Dental crowding	-	OMIM:615777
83987	CCDC8	HP:0000670	Carious teeth	-	OMIM:131300
83987	CCDC8	HP:0011304	Broad thumb	2/7	OMIM:615777
83987	CCDC8	HP:0000668	Hypodontia	-	OMIM:615777
83987	CCDC8	HP:0000664	Synophrys	-	OMIM:615777
83987	CCDC8	HP:0004325	Decreased body weight	6/6	OMIM:614205
83987	CCDC8	HP:0004322	Short stature	6/6	OMIM:614205
83987	CCDC8	HP:0004322	Short stature	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0004396	Poor appetite	-	OMIM:131300
83987	CCDC8	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
83987	CCDC8	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
83987	CCDC8	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
83987	CCDC8	HP:0003026	Short long bone	7/7	OMIM:615777
83987	CCDC8	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
83987	CCDC8	HP:0003022	Hypoplasia of the ulna	HP:0040282	ORPHA:2616
83987	CCDC8	HP:0000767	Pectus excavatum	2/7	OMIM:615777
83987	CCDC8	HP:0000768	Pectus carinatum	1/7	OMIM:615777
83987	CCDC8	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
83987	CCDC8	HP:0000750	Delayed speech and language development	-	OMIM:615777
83987	CCDC8	HP:0011461	Fetal onset	7/7	OMIM:615777
83987	CCDC8	HP:0000774	Narrow chest	2/7	OMIM:615777
83987	CCDC8	HP:0003100	Slender long bone	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0003100	Slender long bone	2/6	OMIM:614205
83987	CCDC8	HP:0000926	Platyspondyly	1/7	OMIM:615777
83987	CCDC8	HP:0003175	Hypoplastic ischia	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0003173	Hypoplastic pubic bone	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0003180	Flat acetabular roof	-	OMIM:615777
83987	CCDC8	HP:0004482	Relative macrocephaly	-	OMIM:615777
83987	CCDC8	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
83987	CCDC8	HP:0000888	Horizontal ribs	HP:0040282	ORPHA:2616
83987	CCDC8	HP:0000883	Thin ribs	HP:0040282	ORPHA:2616
83987	CCDC8	HP:0000823	Delayed puberty	-	OMIM:131300
83987	CCDC8	HP:0000894	Short clavicles	-	OMIM:615777
83987	CCDC8	HP:0004570	Increased vertebral height	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0004570	Increased vertebral height	2/6	OMIM:614205
83987	CCDC8	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
83987	CCDC8	HP:0010306	Short thorax	HP:0040282	ORPHA:2616
83987	CCDC8	HP:0010306	Short thorax	6/6	OMIM:614205
83987	CCDC8	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
83987	CCDC8	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0000286	Epicanthus	1/7	OMIM:615777
83987	CCDC8	HP:0000280	Coarse facial features	2/7	OMIM:615777
83987	CCDC8	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:2616
83987	CCDC8	HP:0000268	Dolichocephaly	2/6	OMIM:614205
83987	CCDC8	HP:0002827	Hip dislocation	3/7	OMIM:615777
83987	CCDC8	HP:0002808	Kyphosis	HP:0040283	ORPHA:2616
83987	CCDC8	HP:0000252	Microcephaly	1/3	OMIM:614205
83987	CCDC8	HP:0000252	Microcephaly	-	OMIM:615777
83987	CCDC8	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0002857	Genu valgum	-	OMIM:131300
83987	CCDC8	HP:0001533	Slender build	-	OMIM:131300
83987	CCDC8	HP:0001518	Small for gestational age	6/6	OMIM:614205
83987	CCDC8	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
83987	CCDC8	HP:0001510	Growth delay	6/6	OMIM:614205
83987	CCDC8	HP:0007807	Optic nerve compression	-	OMIM:131300
83987	CCDC8	HP:0012368	Flat face	7/7	OMIM:615777
83987	CCDC8	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
83987	CCDC8	HP:0000365	Hearing impairment	10/67	OMIM:131300
83987	CCDC8	HP:0000343	Long philtrum	HP:0040282	ORPHA:2616
83987	CCDC8	HP:0000343	Long philtrum	1/7	OMIM:615777
83987	CCDC8	HP:0000343	Long philtrum	1/6	OMIM:614205
83987	CCDC8	HP:0011001	Increased bone mineral density	-	OMIM:131300
83987	CCDC8	HP:0000337	Broad forehead	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0002983	Micromelia	HP:0040282	ORPHA:2616
83987	CCDC8	HP:0000311	Round face	2/7	OMIM:615777
83987	CCDC8	HP:0000325	Triangular face	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0000325	Triangular face	4/6	OMIM:614205
83987	CCDC8	HP:0002970	Genu varum	-	OMIM:615777
83987	CCDC8	HP:0000307	Pointed chin	HP:0040282	ORPHA:2616
83987	CCDC8	HP:0000307	Pointed chin	4/6	OMIM:614205
83987	CCDC8	HP:0000303	Mandibular prognathia	-	OMIM:131300
83987	CCDC8	HP:0005274	Prominent nasal tip	6/6	OMIM:614205
83987	CCDC8	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
83987	CCDC8	HP:0012471	Thick vermilion border	2/6	OMIM:614205
83987	CCDC8	HP:0000463	Anteverted nares	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0000463	Anteverted nares	3/6	OMIM:614205
83987	CCDC8	HP:0000470	Short neck	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0000470	Short neck	1/7	OMIM:615777
83987	CCDC8	HP:0000470	Short neck	3/6	OMIM:614205
83987	CCDC8	HP:0012428	Prominent calcaneus	6/6	OMIM:614205
83987	CCDC8	HP:0001769	Broad foot	HP:0040283	OMIM:615777
83987	CCDC8	HP:0001763	Pes planus	1/7	OMIM:615777
83987	CCDC8	HP:0000414	Bulbous nose	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0000411	Protruding ear	HP:0040282	ORPHA:2616
83987	CCDC8	HP:0000411	Protruding ear	3/6	OMIM:614205
83987	CCDC8	HP:0001840	Metatarsus adductus	-	OMIM:615777
83987	CCDC8	HP:0000520	Proptosis	2/4	OMIM:131300
83987	CCDC8	HP:0000520	Proptosis	7/7	OMIM:615777
83987	CCDC8	HP:0001838	Rocker bottom foot	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0000592	Blue sclerae	2/7	OMIM:615777
83987	CCDC8	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:2616
83987	CCDC8	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
83987	CCDC8	HP:0012514	Lower limb pain	4/4	OMIM:131300
83990	BRIP1	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
83990	BRIP1	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
83990	BRIP1	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
83990	BRIP1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
83990	BRIP1	HP:0001263	Global developmental delay	-	OMIM:609054
83990	BRIP1	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
83990	BRIP1	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
83990	BRIP1	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
83990	BRIP1	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
83990	BRIP1	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
83990	BRIP1	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
83990	BRIP1	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
83990	BRIP1	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
83990	BRIP1	HP:0007565	Multiple cafe-au-lait spots	8/11	OMIM:609054
83990	BRIP1	HP:0008897	Postnatal growth retardation	-	OMIM:609054
83990	BRIP1	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
83990	BRIP1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:609054
83990	BRIP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:114480
83990	BRIP1	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
83990	BRIP1	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
83990	BRIP1	HP:0012125	Prostate cancer	HP:0040283	ORPHA:145
83990	BRIP1	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
83990	BRIP1	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001442	Typified by somatic mosaicism	-	OMIM:114480
83990	BRIP1	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
83990	BRIP1	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
83990	BRIP1	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
83990	BRIP1	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
83990	BRIP1	HP:0010469	Absent testis	HP:0040283	ORPHA:84
83990	BRIP1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
83990	BRIP1	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
83990	BRIP1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
83990	BRIP1	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
83990	BRIP1	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
83990	BRIP1	HP:0100615	Ovarian neoplasm	HP:0040281	ORPHA:145
83990	BRIP1	HP:0009778	Short thumb	3/11	OMIM:609054
83990	BRIP1	HP:0005528	Bone marrow hypocellularity	-	OMIM:609054
83990	BRIP1	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
83990	BRIP1	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
83990	BRIP1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001903	Anemia	HP:0040281	ORPHA:84
83990	BRIP1	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
83990	BRIP1	HP:0004322	Short stature	HP:0040281	ORPHA:84
83990	BRIP1	HP:0003002	Breast carcinoma	-	OMIM:114480
83990	BRIP1	HP:0003002	Breast carcinoma	HP:0040282	ORPHA:145
83990	BRIP1	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
83990	BRIP1	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
83990	BRIP1	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
83990	BRIP1	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
83990	BRIP1	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
83990	BRIP1	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
83990	BRIP1	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
83990	BRIP1	HP:0003221	Chromosomal breakage induced by crosslinking agents	-	OMIM:609054
83990	BRIP1	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
83990	BRIP1	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
83990	BRIP1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
83990	BRIP1	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
83990	BRIP1	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
83990	BRIP1	HP:0000218	High palate	HP:0040283	ORPHA:84
83990	BRIP1	HP:0002894	Neoplasm of the pancreas	HP:0040283	ORPHA:145
83990	BRIP1	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
83990	BRIP1	HP:0002861	Melanoma	HP:0040283	ORPHA:145
83990	BRIP1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
83990	BRIP1	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001511	Intrauterine growth retardation	3/11	OMIM:609054
83990	BRIP1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001510	Growth delay	HP:0040283	ORPHA:84
83990	BRIP1	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
83990	BRIP1	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
83990	BRIP1	HP:0011027	Abnormal fallopian tube morphology	HP:0040281	ORPHA:145
83990	BRIP1	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
83990	BRIP1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
83990	BRIP1	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
83990	BRIP1	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000486	Strabismus	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001763	Pes planus	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
83990	BRIP1	HP:0030406	Primary peritoneal carcinoma	HP:0040281	ORPHA:145
83990	BRIP1	HP:0000518	Cataract	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000520	Proptosis	HP:0040283	ORPHA:84
83990	BRIP1	HP:0001824	Weight loss	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000508	Ptosis	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
83990	BRIP1	HP:0000568	Microphthalmia	4/11	OMIM:609054
83990	BRIP1	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
83990	BRIP1	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
83990	BRIP1	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
83999	KREMEN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617392
83999	KREMEN1	HP:0002299	Brittle hair	56/56	OMIM:617392
83999	KREMEN1	HP:0000677	Oligodontia	56/56	OMIM:617392
83999	KREMEN1	HP:0000653	Sparse eyelashes	-	OMIM:617392
83999	KREMEN1	HP:0045074	Thin eyebrow	-	OMIM:617392
83999	KREMEN1	HP:0000968	Ectodermal dysplasia	11/56	OMIM:617392
83999	KREMEN1	HP:0000294	Low anterior hairline	-	OMIM:617392
83999	KREMEN1	HP:0000316	Hypertelorism	HP:0040283	OMIM:617392
83999	KREMEN1	HP:0005280	Depressed nasal bridge	HP:0040283	OMIM:617392
83999	KREMEN1	HP:0012471	Thick vermilion border	HP:0040283	OMIM:617392
83999	KREMEN1	HP:0000494	Downslanted palpebral fissures	-	OMIM:617392
83999	KREMEN1	HP:0000431	Wide nasal bridge	HP:0040283	OMIM:617392
84033	OBSCN	HP:0002460	Distal muscle weakness	1/6	OMIM:620235
84033	OBSCN	HP:0010969	Abnormality of glycolipid metabolism	HP:0040282	ORPHA:99845
84033	OBSCN	HP:0003738	Exercise-induced myalgia	HP:0040282	ORPHA:99845
84033	OBSCN	HP:0001288	Gait disturbance	HP:0040283	ORPHA:99845
84033	OBSCN	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:99845
84033	OBSCN	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:99845
84033	OBSCN	HP:0000083	Renal insufficiency	2/6	OMIM:620235
84033	OBSCN	HP:0012071	Abnormal circulating acylcarnitine concentration	0/6	OMIM:620235
84033	OBSCN	HP:0001324	Muscle weakness	HP:0040281	ORPHA:99845
84033	OBSCN	HP:0000007	Autosomal recessive inheritance	-	OMIM:620235
84033	OBSCN	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:99845
84033	OBSCN	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040282	ORPHA:99845
84033	OBSCN	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040283	ORPHA:99845
84033	OBSCN	HP:0040319	Dark urine	HP:0040281	ORPHA:99845
84033	OBSCN	HP:0003326	Myalgia	5/6	OMIM:620235
84033	OBSCN	HP:0003394	Muscle spasm	HP:0040283	ORPHA:99845
84033	OBSCN	HP:0100520	Oliguria	HP:0040283	ORPHA:99845
84033	OBSCN	HP:0002153	Hyperkalemia	HP:0040283	ORPHA:99845
84033	OBSCN	HP:0010602	Type 2 muscle fiber predominance	1/5	OMIM:620235
84033	OBSCN	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:99845
84033	OBSCN	HP:0003554	Type 2 muscle fiber atrophy	HP:0040282	ORPHA:99845
84033	OBSCN	HP:0003546	Exercise intolerance	3/6	OMIM:620235
84033	OBSCN	HP:0003558	Viral infection-induced rhabdomyolysis	HP:0040282	ORPHA:99845
84033	OBSCN	HP:0003557	Increased variability in muscle fiber diameter	3/5	OMIM:620235
84033	OBSCN	HP:0008305	Exercise-induced myoglobinuria	HP:0040282	ORPHA:99845
84033	OBSCN	HP:0003687	Centrally nucleated skeletal muscle fibers	1/5	OMIM:620235
84033	OBSCN	HP:0003652	Recurrent myoglobinuria	HP:0040280	ORPHA:99845
84033	OBSCN	HP:0100614	Myositis	HP:0040282	ORPHA:99845
84033	OBSCN	HP:0003621	Juvenile onset	3/6	OMIM:620235
84033	OBSCN	HP:0005521	Disseminated intravascular coagulation	HP:0040284	ORPHA:99845
84033	OBSCN	HP:0001945	Fever	HP:0040281	ORPHA:99845
84033	OBSCN	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:99845
84033	OBSCN	HP:0011462	Young adult onset	3/6	OMIM:620235
84033	OBSCN	HP:0003236	Elevated circulating creatine kinase concentration	6/6	OMIM:620235
84033	OBSCN	HP:0003201	Rhabdomyolysis	6/6	OMIM:620235
84033	OBSCN	HP:0045037	Abnormality of jaw muscles	HP:0040283	ORPHA:99845
84033	OBSCN	HP:0011675	Arrhythmia	HP:0040283	ORPHA:99845
84033	OBSCN	HP:0005216	Impaired mastication	HP:0040283	ORPHA:99845
84033	OBSCN	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040283	ORPHA:99845
84033	OBSCN	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:99845
84033	OBSCN	HP:0002905	Hyperphosphatemia	HP:0040283	ORPHA:99845
84033	OBSCN	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:99845
84033	OBSCN	HP:0030234	Highly elevated creatine kinase	HP:0040281	ORPHA:99845
84033	OBSCN	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:99845
84033	OBSCN	HP:0012544	Elevated circulating aldolase concentration	HP:0040282	ORPHA:99845
84059	ADGRV1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
84059	ADGRV1	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:36387
84059	ADGRV1	HP:0001252	Hypotonia	HP:0040283	ORPHA:36387
84059	ADGRV1	HP:0001251	Ataxia	HP:0040283	ORPHA:36387
84059	ADGRV1	HP:0001251	Ataxia	HP:0040283	ORPHA:231178
84059	ADGRV1	HP:0008770	Obsessive-compulsive trait	HP:0040284	ORPHA:36387
84059	ADGRV1	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:231178
84059	ADGRV1	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:36387
84059	ADGRV1	HP:0002539	Cortical dysplasia	HP:0040283	ORPHA:36387
84059	ADGRV1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
84059	ADGRV1	HP:0000007	Autosomal recessive inheritance	-	OMIM:605472
84059	ADGRV1	HP:0001337	Tremor	HP:0040284	ORPHA:36387
84059	ADGRV1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
84059	ADGRV1	HP:0000006	Autosomal dominant inheritance	-	OMIM:604352
84059	ADGRV1	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:231178
84059	ADGRV1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
84059	ADGRV1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
84059	ADGRV1	HP:0004684	Talipes valgus	HP:0040284	ORPHA:36387
84059	ADGRV1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:36387
84059	ADGRV1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:36387
84059	ADGRV1	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:604352
84059	ADGRV1	HP:0002067	Bradykinesia	HP:0040284	ORPHA:36387
84059	ADGRV1	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:36387
84059	ADGRV1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:231178
84059	ADGRV1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:36387
84059	ADGRV1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:36387
84059	ADGRV1	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:36387
84059	ADGRV1	HP:0003593	Infantile onset	-	OMIM:604352
84059	ADGRV1	HP:0100753	Schizophrenia	HP:0040283	ORPHA:231178
84059	ADGRV1	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:36387
84059	ADGRV1	HP:0007058	Generalized cerebral atrophy/hypoplasia	HP:0040283	ORPHA:36387
84059	ADGRV1	HP:0002384	Focal impaired awareness seizure	HP:0040284	ORPHA:36387
84059	ADGRV1	HP:0002376	Developmental regression	HP:0040283	ORPHA:36387
84059	ADGRV1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:36387
84059	ADGRV1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	-	OMIM:604352
84059	ADGRV1	HP:0008527	Congenital sensorineural hearing impairment	-	OMIM:605472
84059	ADGRV1	HP:0010819	Atonic seizure	-	OMIM:604352
84059	ADGRV1	HP:0010819	Atonic seizure	HP:0040283	ORPHA:36387
84059	ADGRV1	HP:0010818	Generalized tonic seizure	-	OMIM:604352
84059	ADGRV1	HP:0100694	Tibial torsion	HP:0040284	ORPHA:36387
84059	ADGRV1	HP:0002311	Incoordination	HP:0040283	ORPHA:36387
84059	ADGRV1	HP:0003621	Juvenile onset	8/19	OMIM:180100
84059	ADGRV1	HP:0000639	Nystagmus	HP:0040283	ORPHA:231178
84059	ADGRV1	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:231178
84059	ADGRV1	HP:0000691	Microdontia	HP:0040283	ORPHA:231178
84059	ADGRV1	HP:0000662	Nyctalopia	HP:0040281	ORPHA:231178
84059	ADGRV1	HP:0000662	Nyctalopia	26/28	OMIM:180100
84059	ADGRV1	HP:0000670	Carious teeth	HP:0040283	ORPHA:231178
84059	ADGRV1	HP:0003066	Limited knee extension	HP:0040284	ORPHA:36387
84059	ADGRV1	HP:0000738	Hallucinations	HP:0040283	ORPHA:231178
84059	ADGRV1	HP:0000739	Anxiety	HP:0040284	ORPHA:36387
84059	ADGRV1	HP:0000739	Anxiety	HP:0040283	ORPHA:231178
84059	ADGRV1	HP:0000716	Depression	HP:0040283	ORPHA:231178
84059	ADGRV1	HP:0000729	Autistic behavior	HP:0040284	ORPHA:36387
84059	ADGRV1	HP:0011463	Childhood onset	3/19	OMIM:180100
84059	ADGRV1	HP:0011463	Childhood onset	-	OMIM:604352
84059	ADGRV1	HP:0011462	Young adult onset	8/19	OMIM:180100
84059	ADGRV1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
84059	ADGRV1	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:231178
84059	ADGRV1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
84059	ADGRV1	HP:0011073	Abnormality of dental color	HP:0040283	ORPHA:231178
84059	ADGRV1	HP:0012377	Hemianopia	HP:0040281	ORPHA:231178
84059	ADGRV1	HP:0000359	Abnormality of the inner ear	HP:0040281	ORPHA:231178
84059	ADGRV1	HP:0011151	Atypical absence status epilepticus	HP:0040283	ORPHA:36387
84059	ADGRV1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:231178
84059	ADGRV1	HP:0001763	Pes planus	HP:0040284	ORPHA:36387
84059	ADGRV1	HP:0000518	Cataract	HP:0040282	ORPHA:231178
84059	ADGRV1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
84059	ADGRV1	HP:0000510	Rod-cone dystrophy	-	OMIM:605472
84059	ADGRV1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:231178
84059	ADGRV1	HP:0000575	Scotoma	5/18	OMIM:180100
84059	ADGRV1	HP:0000575	Scotoma	HP:0040281	ORPHA:231178
84059	ADGRV1	HP:0000572	Visual loss	HP:0040281	ORPHA:231178
84059	ADGRV1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
84059	ADGRV1	HP:0000545	Myopia	-	OMIM:180100
84059	ADGRV1	HP:0000545	Myopia	HP:0040282	ORPHA:231178
84061	MAGT1	HP:0032247	Persistent CMV viremia	1/1	OMIM:300853
84061	MAGT1	HP:0032204	Chronic active Epstein-Barr virus infection	2/2	OMIM:300853
84061	MAGT1	HP:0032218	Decreased proportion of CD4-positive T cells	3/3	OMIM:300853
84061	MAGT1	HP:0001249	Intellectual disability	2/2	OMIM:301031
84061	MAGT1	HP:0001263	Global developmental delay	2/2	OMIM:301031
84061	MAGT1	HP:0002665	Lymphoma	-	OMIM:300853
84061	MAGT1	HP:0012191	B-cell lymphoma	4/4	OMIM:300853
84061	MAGT1	HP:0012189	Hodgkin lymphoma	1/1	OMIM:300853
84061	MAGT1	HP:0031268	Decreased CD69 upregulation upon TCR activation	2/2	OMIM:300853
84061	MAGT1	HP:0001419	X-linked recessive inheritance	-	OMIM:300853
84061	MAGT1	HP:0001419	X-linked recessive inheritance	-	OMIM:301031
84061	MAGT1	HP:0002716	Lymphadenopathy	1/1	OMIM:300853
84061	MAGT1	HP:0002721	Immunodeficiency	-	OMIM:300853
84061	MAGT1	HP:0002110	Bronchiectasis	1/2	OMIM:300853
84061	MAGT1	HP:0033222	Inverted CD4:CD8 ratio	4/4	OMIM:300853
84061	MAGT1	HP:0002240	Hepatomegaly	1/2	OMIM:301031
84061	MAGT1	HP:0002205	Recurrent respiratory infections	1/2	OMIM:300853
84061	MAGT1	HP:0100721	Mediastinal lymphadenopathy	1/1	OMIM:300853
84061	MAGT1	HP:0020072	Persistent EBV viremia	7/7	OMIM:300853
84061	MAGT1	HP:0032170	Severe varicella zoster infection	1/4	OMIM:300853
84061	MAGT1	HP:0003642	Type I transferrin isoform profile	2/2	OMIM:301031
84061	MAGT1	HP:0003621	Juvenile onset	1/2	OMIM:300853
84061	MAGT1	HP:0005523	Lymphoproliferative disorder	2/2	OMIM:300853
84061	MAGT1	HP:0001973	Autoimmune thrombocytopenia	1/1	OMIM:300853
84061	MAGT1	HP:0011462	Young adult onset	1/2	OMIM:300853
84061	MAGT1	HP:0004429	Recurrent viral infections	-	OMIM:300853
84061	MAGT1	HP:0002837	Recurrent bronchitis	1/1	OMIM:300853
84061	MAGT1	HP:0002848	Decreased specific anti-polysaccharide antibody level	-	OMIM:300853
84061	MAGT1	HP:0000403	Recurrent otitis media	2/2	OMIM:300853
84061	MAGT1	HP:0011108	Recurrent sinusitis	3/3	OMIM:300853
84061	MAGT1	HP:0001744	Splenomegaly	4/4	OMIM:300853
84061	MAGT1	HP:0005419	Decreased T cell activation	-	OMIM:300853
84062	DTNBP1	HP:0001107	Ocular albinism	1/1	OMIM:614076
84062	DTNBP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614076
84062	DTNBP1	HP:0007663	Reduced visual acuity	1/1	OMIM:614076
84062	DTNBP1	HP:0006298	Prolonged bleeding after dental extraction	1/1	OMIM:614076
84062	DTNBP1	HP:0000132	Menorrhagia	1/1	OMIM:614076
84062	DTNBP1	HP:0011891	Post-partum hemorrhage	1/1	OMIM:614076
84062	DTNBP1	HP:0003540	Impaired platelet aggregation	2/2	OMIM:614076
84062	DTNBP1	HP:0001022	Albinism	-	OMIM:614076
84062	DTNBP1	HP:0000639	Nystagmus	1/1	OMIM:614076
84062	DTNBP1	HP:0001934	Persistent bleeding after trauma	1/1	OMIM:614076
84062	DTNBP1	HP:0003010	Prolonged bleeding time	1/1	OMIM:614076
84062	DTNBP1	HP:0011463	Childhood onset	1/1	OMIM:614076
84062	DTNBP1	HP:0000978	Bruising susceptibility	1/1	OMIM:614076
84062	DTNBP1	HP:0000421	Epistaxis	1/1	OMIM:614076
84062	DTNBP1	HP:0000505	Visual impairment	-	OMIM:614076
84065	TMEM222	HP:0009879	Simplified gyral pattern	1/15	OMIM:619470
84065	TMEM222	HP:0001270	Motor delay	17/17	OMIM:619470
84065	TMEM222	HP:0001285	Spastic tetraparesis	2/17	OMIM:619470
84065	TMEM222	HP:0001250	Seizure	7/17	OMIM:619470
84065	TMEM222	HP:0001252	Hypotonia	10/15	OMIM:619470
84065	TMEM222	HP:0001263	Global developmental delay	17/17	OMIM:619470
84065	TMEM222	HP:0000007	Autosomal recessive inheritance	-	OMIM:619470
84065	TMEM222	HP:0001337	Tremor	5/17	OMIM:619470
84065	TMEM222	HP:0002136	Broad-based gait	5/12	OMIM:619470
84065	TMEM222	HP:0020045	Esodeviation	1/17	OMIM:619470
84065	TMEM222	HP:0000648	Optic atrophy	1/17	OMIM:619470
84065	TMEM222	HP:0031936	Delayed ability to walk	17/17	OMIM:619470
84065	TMEM222	HP:0000752	Hyperactivity	2/17	OMIM:619470
84065	TMEM222	HP:0000733	Motor stereotypy	4/17	OMIM:619470
84065	TMEM222	HP:0000750	Delayed speech and language development	17/17	OMIM:619470
84065	TMEM222	HP:0000718	Aggressive behavior	6/17	OMIM:619470
84065	TMEM222	HP:0000729	Autistic behavior	2/17	OMIM:619470
84065	TMEM222	HP:0030891	Periventricular white matter hyperintensities	1/17	OMIM:619470
84065	TMEM222	HP:0000238	Hydrocephalus	2/17	OMIM:619470
84065	TMEM222	HP:0000252	Microcephaly	8/17	OMIM:619470
84065	TMEM222	HP:0002987	Elbow flexion contracture	2/17	OMIM:619470
84065	TMEM222	HP:0000486	Strabismus	3/17	OMIM:619470
84065	TMEM222	HP:0001792	Small nail	2/17	OMIM:619470
84068	SLC10A7	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
84068	SLC10A7	HP:0001293	Cranial nerve compression	-	OMIM:131300
84068	SLC10A7	HP:0001256	Intellectual disability, mild	-	OMIM:259770
84068	SLC10A7	HP:0001252	Hypotonia	-	OMIM:259770
84068	SLC10A7	HP:0001252	Hypotonia	2/7	OMIM:615777
84068	SLC10A7	HP:0001249	Intellectual disability	5/7	OMIM:615777
84068	SLC10A7	HP:0001263	Global developmental delay	HP:0040284	OMIM:618363
84068	SLC10A7	HP:0001263	Global developmental delay	1/1	OMIM:612394
84068	SLC10A7	HP:0001263	Global developmental delay	-	OMIM:615777
84068	SLC10A7	HP:0100864	Short femoral neck	-	OMIM:618363
84068	SLC10A7	HP:0002515	Waddling gait	54/102	OMIM:131300
84068	SLC10A7	HP:0001382	Joint hypermobility	-	OMIM:259770
84068	SLC10A7	HP:0001382	Joint hypermobility	2/5	OMIM:618363
84068	SLC10A7	HP:0001382	Joint hypermobility	-	OMIM:615777
84068	SLC10A7	HP:0000023	Inguinal hernia	3/5	OMIM:618363
84068	SLC10A7	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
84068	SLC10A7	HP:0002694	Sclerosis of skull base	-	OMIM:131300
84068	SLC10A7	HP:0008897	Postnatal growth retardation	-	OMIM:615777
84068	SLC10A7	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
84068	SLC10A7	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
84068	SLC10A7	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
84068	SLC10A7	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
84068	SLC10A7	HP:0001324	Muscle weakness	40/96	OMIM:131300
84068	SLC10A7	HP:0002673	Coxa valga	1/2	OMIM:618363
84068	SLC10A7	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
84068	SLC10A7	HP:0000007	Autosomal recessive inheritance	-	OMIM:618363
84068	SLC10A7	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
84068	SLC10A7	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
84068	SLC10A7	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
84068	SLC10A7	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
84068	SLC10A7	HP:0002650	Scoliosis	1/5	OMIM:259770
84068	SLC10A7	HP:0002650	Scoliosis	3/5	OMIM:618363
84068	SLC10A7	HP:0002650	Scoliosis	1/1	OMIM:612394
84068	SLC10A7	HP:0002650	Scoliosis	12/14	OMIM:131300
84068	SLC10A7	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
84068	SLC10A7	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
84068	SLC10A7	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
84068	SLC10A7	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
84068	SLC10A7	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
84068	SLC10A7	HP:0000175	Cleft palate	1/5	OMIM:618363
84068	SLC10A7	HP:0000175	Cleft palate	2/7	OMIM:615777
84068	SLC10A7	HP:0006297	Enamel hypoplasia	5/5	OMIM:618363
84068	SLC10A7	HP:0002757	Recurrent fractures	4/5	OMIM:259770
84068	SLC10A7	HP:0002756	Pathologic fracture	-	OMIM:259770
84068	SLC10A7	HP:0002756	Pathologic fracture	1/1	OMIM:612394
84068	SLC10A7	HP:0002751	Kyphoscoliosis	-	OMIM:259770
84068	SLC10A7	HP:0002751	Kyphoscoliosis	-	OMIM:618363
84068	SLC10A7	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
84068	SLC10A7	HP:0003307	Hyperlordosis	-	OMIM:618363
84068	SLC10A7	HP:0003301	Irregular vertebral endplates	1/5	OMIM:618363
84068	SLC10A7	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
84068	SLC10A7	HP:0003388	Easy fatigability	36/76	OMIM:131300
84068	SLC10A7	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
84068	SLC10A7	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
84068	SLC10A7	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
84068	SLC10A7	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
84068	SLC10A7	HP:0003417	Coronal cleft vertebrae	1/5	OMIM:618363
84068	SLC10A7	HP:0003498	Disproportionate short stature	-	OMIM:618363
84068	SLC10A7	HP:0002164	Nail dysplasia	1/1	OMIM:612394
84068	SLC10A7	HP:0010557	Overlapping fingers	1/2	OMIM:612394
84068	SLC10A7	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
84068	SLC10A7	HP:0010585	Small epiphyses	-	OMIM:618363
84068	SLC10A7	HP:0003593	Infantile onset	1/5	OMIM:259770
84068	SLC10A7	HP:0003577	Congenital onset	4/5	OMIM:259770
84068	SLC10A7	HP:0002208	Coarse hair	1/1	OMIM:612394
84068	SLC10A7	HP:0003510	Severe short stature	7/7	OMIM:615777
84068	SLC10A7	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
84068	SLC10A7	HP:0025019	Arterial rupture	1/1	OMIM:612394
84068	SLC10A7	HP:0002315	Headache	-	OMIM:131300
84068	SLC10A7	HP:0004976	Knee dislocation	-	OMIM:618363
84068	SLC10A7	HP:0004976	Knee dislocation	6/7	OMIM:615777
84068	SLC10A7	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
84068	SLC10A7	HP:0009804	Tooth agenesis	HP:0040284	OMIM:618363
84068	SLC10A7	HP:0009803	Short phalanx of finger	-	OMIM:615777
84068	SLC10A7	HP:0001089	Iris atrophy	-	OMIM:259770
84068	SLC10A7	HP:0009763	Limb pain	63/92	OMIM:131300
84068	SLC10A7	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
84068	SLC10A7	HP:0003621	Juvenile onset	-	OMIM:131300
84068	SLC10A7	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
84068	SLC10A7	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
84068	SLC10A7	HP:0004233	Advanced ossification of carpal bones	-	OMIM:618363
84068	SLC10A7	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
84068	SLC10A7	HP:6001056	Out-toeing	-	OMIM:131300
84068	SLC10A7	HP:0000651	Diplopia	-	OMIM:131300
84068	SLC10A7	HP:0000618	Blindness	5/5	OMIM:259770
84068	SLC10A7	HP:0001956	Truncal obesity	HP:0040284	OMIM:618363
84068	SLC10A7	HP:0001956	Truncal obesity	2/7	OMIM:615777
84068	SLC10A7	HP:0001903	Anemia	HP:0040283	OMIM:131300
84068	SLC10A7	HP:0010049	Short metacarpal	-	OMIM:615777
84068	SLC10A7	HP:0000678	Dental crowding	-	OMIM:615777
84068	SLC10A7	HP:0000670	Carious teeth	3/4	OMIM:618363
84068	SLC10A7	HP:0000670	Carious teeth	-	OMIM:131300
84068	SLC10A7	HP:0011304	Broad thumb	2/7	OMIM:615777
84068	SLC10A7	HP:0000668	Hypodontia	-	OMIM:615777
84068	SLC10A7	HP:0000667	Phthisis bulbi	-	OMIM:259770
84068	SLC10A7	HP:0000664	Synophrys	-	OMIM:615777
84068	SLC10A7	HP:0004322	Short stature	5/5	OMIM:618363
84068	SLC10A7	HP:0004322	Short stature	-	OMIM:259770
84068	SLC10A7	HP:0005616	Accelerated skeletal maturation	-	OMIM:618363
84068	SLC10A7	HP:0003071	Flattened epiphysis	-	OMIM:618363
84068	SLC10A7	HP:0004396	Poor appetite	-	OMIM:131300
84068	SLC10A7	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
84068	SLC10A7	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
84068	SLC10A7	HP:0003016	Metaphyseal widening	-	OMIM:259770
84068	SLC10A7	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
84068	SLC10A7	HP:0003026	Short long bone	-	OMIM:618363
84068	SLC10A7	HP:0003026	Short long bone	7/7	OMIM:615777
84068	SLC10A7	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
84068	SLC10A7	HP:0000767	Pectus excavatum	2/7	OMIM:615777
84068	SLC10A7	HP:0000768	Pectus carinatum	1/7	OMIM:615777
84068	SLC10A7	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
84068	SLC10A7	HP:0000750	Delayed speech and language development	-	OMIM:615777
84068	SLC10A7	HP:0000705	Amelogenesis imperfecta	5/5	OMIM:618363
84068	SLC10A7	HP:0011461	Fetal onset	7/7	OMIM:615777
84068	SLC10A7	HP:0011461	Fetal onset	2/2	OMIM:612394
84068	SLC10A7	HP:0000774	Narrow chest	2/7	OMIM:615777
84068	SLC10A7	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
84068	SLC10A7	HP:0003196	Short nose	1/1	OMIM:612394
84068	SLC10A7	HP:0000926	Platyspondyly	-	OMIM:259770
84068	SLC10A7	HP:0000926	Platyspondyly	1/7	OMIM:615777
84068	SLC10A7	HP:0000926	Platyspondyly	1/1	OMIM:612394
84068	SLC10A7	HP:0003180	Flat acetabular roof	-	OMIM:615777
84068	SLC10A7	HP:0004482	Relative macrocephaly	-	OMIM:615777
84068	SLC10A7	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
84068	SLC10A7	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
84068	SLC10A7	HP:0000823	Delayed puberty	-	OMIM:131300
84068	SLC10A7	HP:0000894	Short clavicles	-	OMIM:615777
84068	SLC10A7	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
84068	SLC10A7	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
84068	SLC10A7	HP:0003273	Hip contracture	-	OMIM:618363
84068	SLC10A7	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
84068	SLC10A7	HP:0010306	Short thorax	-	OMIM:618363
84068	SLC10A7	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
84068	SLC10A7	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
84068	SLC10A7	HP:0000939	Osteoporosis	4/5	OMIM:259770
84068	SLC10A7	HP:0000938	Osteopenia	1/5	OMIM:259770
84068	SLC10A7	HP:0000938	Osteopenia	1/1	OMIM:612394
84068	SLC10A7	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
84068	SLC10A7	HP:0000286	Epicanthus	1/7	OMIM:615777
84068	SLC10A7	HP:0000280	Coarse facial features	2/7	OMIM:615777
84068	SLC10A7	HP:0000272	Malar flattening	1/1	OMIM:612394
84068	SLC10A7	HP:0007773	Vitreoretinopathy	-	OMIM:259770
84068	SLC10A7	HP:0002827	Hip dislocation	3/7	OMIM:615777
84068	SLC10A7	HP:0002808	Kyphosis	1/5	OMIM:259770
84068	SLC10A7	HP:0000252	Microcephaly	-	OMIM:259770
84068	SLC10A7	HP:0000252	Microcephaly	-	OMIM:615777
84068	SLC10A7	HP:0001552	Barrel-shaped chest	-	OMIM:259770
84068	SLC10A7	HP:0000218	High palate	-	OMIM:618363
84068	SLC10A7	HP:0002857	Genu valgum	-	OMIM:131300
84068	SLC10A7	HP:0002857	Genu valgum	2/5	OMIM:618363
84068	SLC10A7	HP:0001533	Slender build	-	OMIM:131300
84068	SLC10A7	HP:0000201	Pierre-Robin sequence	HP:0040284	OMIM:618363
84068	SLC10A7	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
84068	SLC10A7	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
84068	SLC10A7	HP:0001513	Obesity	HP:0040284	OMIM:618363
84068	SLC10A7	HP:0007807	Optic nerve compression	-	OMIM:131300
84068	SLC10A7	HP:0012368	Flat face	7/7	OMIM:615777
84068	SLC10A7	HP:0012368	Flat face	1/1	OMIM:612394
84068	SLC10A7	HP:0005257	Thoracic hypoplasia	-	OMIM:618363
84068	SLC10A7	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
84068	SLC10A7	HP:0007875	Congenital blindness	4/5	OMIM:259770
84068	SLC10A7	HP:0007862	Retinal calcification	1/5	OMIM:259770
84068	SLC10A7	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
84068	SLC10A7	HP:0000365	Hearing impairment	4/4	OMIM:618363
84068	SLC10A7	HP:0000365	Hearing impairment	10/67	OMIM:131300
84068	SLC10A7	HP:0000369	Low-set ears	2/2	OMIM:612394
84068	SLC10A7	HP:0000343	Long philtrum	1/7	OMIM:615777
84068	SLC10A7	HP:0011001	Increased bone mineral density	-	OMIM:131300
84068	SLC10A7	HP:0000347	Micrognathia	12/14	OMIM:618363
84068	SLC10A7	HP:0002982	Tibial bowing	1/5	OMIM:259770
84068	SLC10A7	HP:0000311	Round face	-	OMIM:618363
84068	SLC10A7	HP:0000311	Round face	2/7	OMIM:615777
84068	SLC10A7	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
84068	SLC10A7	HP:0001629	Ventricular septal defect	-	OMIM:259770
84068	SLC10A7	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
84068	SLC10A7	HP:0002970	Genu varum	-	OMIM:615777
84068	SLC10A7	HP:0000308	Microretrognathia	-	OMIM:618363
84068	SLC10A7	HP:0000307	Pointed chin	1/2	OMIM:612394
84068	SLC10A7	HP:0000303	Mandibular prognathia	-	OMIM:131300
84068	SLC10A7	HP:0000303	Mandibular prognathia	1/4	OMIM:618363
84068	SLC10A7	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
84068	SLC10A7	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
84068	SLC10A7	HP:0000463	Anteverted nares	1/1	OMIM:612394
84068	SLC10A7	HP:0000470	Short neck	1/7	OMIM:615777
84068	SLC10A7	HP:0001769	Broad foot	HP:0040283	OMIM:615777
84068	SLC10A7	HP:0001763	Pes planus	HP:0040284	OMIM:618363
84068	SLC10A7	HP:0001763	Pes planus	1/7	OMIM:615777
84068	SLC10A7	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
84068	SLC10A7	HP:0000518	Cataract	1/5	OMIM:259770
84068	SLC10A7	HP:0000518	Cataract	1/1	OMIM:612394
84068	SLC10A7	HP:0001840	Metatarsus adductus	-	OMIM:615777
84068	SLC10A7	HP:0000520	Proptosis	2/4	OMIM:131300
84068	SLC10A7	HP:0000520	Proptosis	7/7	OMIM:615777
84068	SLC10A7	HP:0000592	Blue sclerae	2/7	OMIM:615777
84068	SLC10A7	HP:0000586	Shallow orbits	1/1	OMIM:612394
84068	SLC10A7	HP:0000568	Microphthalmia	1/5	OMIM:259770
84068	SLC10A7	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
84068	SLC10A7	HP:0012514	Lower limb pain	4/4	OMIM:131300
84068	SLC10A7	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
84068	SLC10A7	HP:0000545	Myopia	1/1	OMIM:612394
84071	ARMC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618433
84071	ARMC2	HP:0032558	Absent sperm flagella	-	OMIM:618433
84071	ARMC2	HP:0032560	Coiled sperm flagella	4/5	OMIM:618433
84071	ARMC2	HP:0032562	Tapered sperm head	4/4	OMIM:618433
84071	ARMC2	HP:0000798	Oligozoospermia	-	OMIM:618433
84071	ARMC2	HP:0012865	Abnormal sperm head morphology	-	OMIM:618433
84071	ARMC2	HP:0003251	Male infertility	-	OMIM:618433
84071	ARMC2	HP:0012258	Abnormal axonemal organization of respiratory motile cilia	-	OMIM:618433
84071	ARMC2	HP:0012207	Reduced sperm motility	-	OMIM:618433
84074	QRICH2	HP:0033525	Absent sperm axoneme central pair complex	1/2	OMIM:618341
84074	QRICH2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618341
84074	QRICH2	HP:0032558	Absent sperm flagella	2/2	OMIM:618341
84074	QRICH2	HP:0032559	Short sperm flagella	2/2	OMIM:618341
84074	QRICH2	HP:0032560	Coiled sperm flagella	2/2	OMIM:618341
84074	QRICH2	HP:0011462	Young adult onset	2/2	OMIM:618341
84074	QRICH2	HP:0003251	Male infertility	2/2	OMIM:618341
84081	NSRP1	HP:0020206	Simple ear	2/6	OMIM:620001
84081	NSRP1	HP:0009879	Simplified gyral pattern	3/4	OMIM:620001
84081	NSRP1	HP:0001250	Seizure	6/6	OMIM:620001
84081	NSRP1	HP:0001263	Global developmental delay	6/6	OMIM:620001
84081	NSRP1	HP:0001371	Flexion contracture	2/6	OMIM:620001
84081	NSRP1	HP:0001347	Hyperreflexia	3/6	OMIM:620001
84081	NSRP1	HP:0001344	Absent speech	3/6	OMIM:620001
84081	NSRP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620001
84081	NSRP1	HP:0001320	Cerebellar vermis hypoplasia	3/4	OMIM:620001
84081	NSRP1	HP:0008936	Axial hypotonia	6/6	OMIM:620001
84081	NSRP1	HP:0002015	Dysphagia	4/6	OMIM:620001
84081	NSRP1	HP:0003593	Infantile onset	3/6	OMIM:620001
84081	NSRP1	HP:0002365	Hypoplasia of the brainstem	1/4	OMIM:620001
84081	NSRP1	HP:0010804	Tented upper lip vermilion	3/6	OMIM:620001
84081	NSRP1	HP:0003623	Neonatal onset	3/6	OMIM:620001
84081	NSRP1	HP:0006989	Dysplastic corpus callosum	1/4	OMIM:620001
84081	NSRP1	HP:0100021	Cerebral palsy	2/6	OMIM:620001
84081	NSRP1	HP:0034353	Appendicular spasticity	-	OMIM:620001
84081	NSRP1	HP:0008070	Sparse hair	1/6	OMIM:620001
84081	NSRP1	HP:0000252	Microcephaly	5/6	OMIM:620001
84081	NSRP1	HP:0000218	High palate	2/6	OMIM:620001
84081	NSRP1	HP:0001508	Failure to thrive	1/6	OMIM:620001
84081	NSRP1	HP:0000358	Posteriorly rotated ears	1/6	OMIM:620001
84081	NSRP1	HP:0000369	Low-set ears	1/6	OMIM:620001
84081	NSRP1	HP:0000343	Long philtrum	1/6	OMIM:620001
84081	NSRP1	HP:0000348	High forehead	3/6	OMIM:620001
84081	NSRP1	HP:0000316	Hypertelorism	1/6	OMIM:620001
84081	NSRP1	HP:0000322	Short philtrum	2/6	OMIM:620001
84081	NSRP1	HP:0000303	Mandibular prognathia	1/6	OMIM:620001
84081	NSRP1	HP:0011182	Interictal epileptiform activity	5/6	OMIM:620001
84081	NSRP1	HP:0032988	Persistent head lag	1/6	OMIM:620001
84081	NSRP1	HP:0005280	Depressed nasal bridge	1/6	OMIM:620001
84081	NSRP1	HP:0000494	Downslanted palpebral fissures	2/6	OMIM:620001
84081	NSRP1	HP:0000463	Anteverted nares	1/6	OMIM:620001
84081	NSRP1	HP:0000411	Protruding ear	2/6	OMIM:620001
84081	NSRP1	HP:0005487	Prominent metopic ridge	1/6	OMIM:620001
84100	ARL6	HP:0001156	Brachydactyly	-	OMIM:209900
84100	ARL6	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
84100	ARL6	HP:0001156	Brachydactyly	-	OMIM:600151
84100	ARL6	HP:0001162	Postaxial hand polydactyly	1/1	OMIM:209900
84100	ARL6	HP:0001159	Syndactyly	-	OMIM:209900
84100	ARL6	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
84100	ARL6	HP:0001133	Constriction of peripheral visual field	-	OMIM:268000
84100	ARL6	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
84100	ARL6	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
84100	ARL6	HP:0001250	Seizure	HP:0040283	ORPHA:110
84100	ARL6	HP:0001251	Ataxia	-	OMIM:209900
84100	ARL6	HP:0001251	Ataxia	HP:0040283	ORPHA:110
84100	ARL6	HP:0001249	Intellectual disability	13/19	OMIM:600151
84100	ARL6	HP:0001249	Intellectual disability	26/33	OMIM:209900
84100	ARL6	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
84100	ARL6	HP:0001263	Global developmental delay	12/12	OMIM:600151
84100	ARL6	HP:0001263	Global developmental delay	2/4	OMIM:209900
84100	ARL6	HP:0001257	Spasticity	HP:0040283	ORPHA:110
84100	ARL6	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
84100	ARL6	HP:0008734	Decreased testicular size	-	OMIM:209900
84100	ARL6	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
84100	ARL6	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
84100	ARL6	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
84100	ARL6	HP:0000089	Renal hypoplasia	1/12	OMIM:600151
84100	ARL6	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
84100	ARL6	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
84100	ARL6	HP:0001395	Hepatic fibrosis	-	OMIM:209900
84100	ARL6	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
84100	ARL6	HP:0000077	Abnormality of the kidney	-	OMIM:209900
84100	ARL6	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
84100	ARL6	HP:0000054	Micropenis	-	OMIM:209900
84100	ARL6	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
84100	ARL6	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
84100	ARL6	HP:0001328	Specific learning disability	-	OMIM:209900
84100	ARL6	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
84100	ARL6	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
84100	ARL6	HP:0000007	Autosomal recessive inheritance	-	OMIM:600151
84100	ARL6	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
84100	ARL6	HP:0000007	Autosomal recessive inheritance	-	OMIM:268000
84100	ARL6	HP:0000007	Autosomal recessive inheritance	-	OMIM:209900
84100	ARL6	HP:0000007	Autosomal recessive inheritance	-	OMIM:613575
84100	ARL6	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
84100	ARL6	HP:0000006	Autosomal dominant inheritance	-	OMIM:268000
84100	ARL6	HP:0002650	Scoliosis	1/10	OMIM:209900
84100	ARL6	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
84100	ARL6	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
84100	ARL6	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
84100	ARL6	HP:0000135	Hypogonadism	-	OMIM:209900
84100	ARL6	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
84100	ARL6	HP:0000137	Abnormality of the ovary	-	OMIM:209900
84100	ARL6	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
84100	ARL6	HP:0000148	Vaginal atresia	-	OMIM:209900
84100	ARL6	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
84100	ARL6	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
84100	ARL6	HP:0007663	Reduced visual acuity	15/15	OMIM:209900
84100	ARL6	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
84100	ARL6	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
84100	ARL6	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
84100	ARL6	HP:0002705	High, narrow palate	-	OMIM:209900
84100	ARL6	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
84100	ARL6	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
84100	ARL6	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
84100	ARL6	HP:0001419	X-linked recessive inheritance	-	OMIM:268000
84100	ARL6	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
84100	ARL6	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
84100	ARL6	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
84100	ARL6	HP:0002099	Asthma	-	OMIM:209900
84100	ARL6	HP:0002099	Asthma	HP:0040283	ORPHA:110
84100	ARL6	HP:0009466	Radial deviation of finger	-	OMIM:209900
84100	ARL6	HP:0002141	Gait imbalance	-	OMIM:209900
84100	ARL6	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
84100	ARL6	HP:0002167	Abnormal speech pattern	-	OMIM:209900
84100	ARL6	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
84100	ARL6	HP:0003577	Congenital onset	4/4	OMIM:209900
84100	ARL6	HP:0003577	Congenital onset	7/7	OMIM:600151
84100	ARL6	HP:0002251	Aganglionic megacolon	HP:0040283	OMIM:209900
84100	ARL6	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
84100	ARL6	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
84100	ARL6	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
84100	ARL6	HP:0002370	Poor coordination	-	OMIM:209900
84100	ARL6	HP:0001007	Hirsutism	-	OMIM:209900
84100	ARL6	HP:0009806	Nephrogenic diabetes insipidus	-	OMIM:209900
84100	ARL6	HP:0001080	Biliary tract abnormality	-	OMIM:209900
84100	ARL6	HP:0010750	Dermatochalasis	1/3	OMIM:209900
84100	ARL6	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
84100	ARL6	HP:0003621	Juvenile onset	5/9	OMIM:209900
84100	ARL6	HP:0003621	Juvenile onset	8/19	OMIM:180100
84100	ARL6	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
84100	ARL6	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
84100	ARL6	HP:0000639	Nystagmus	11/11	OMIM:209900
84100	ARL6	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
84100	ARL6	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
84100	ARL6	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
84100	ARL6	HP:0000618	Blindness	HP:0040281	ORPHA:791
84100	ARL6	HP:0000618	Blindness	HP:0040282	ORPHA:110
84100	ARL6	HP:0000613	Photophobia	HP:0040282	ORPHA:110
84100	ARL6	HP:0000613	Photophobia	HP:0040281	ORPHA:791
84100	ARL6	HP:0001956	Truncal obesity	18/22	OMIM:209900
84100	ARL6	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
84100	ARL6	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
84100	ARL6	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
84100	ARL6	HP:0000678	Dental crowding	-	OMIM:209900
84100	ARL6	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
84100	ARL6	HP:0000691	Microdontia	HP:0040283	ORPHA:110
84100	ARL6	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
84100	ARL6	HP:0000662	Nyctalopia	-	OMIM:268000
84100	ARL6	HP:0000662	Nyctalopia	14/14	OMIM:209900
84100	ARL6	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
84100	ARL6	HP:0000662	Nyctalopia	26/28	OMIM:180100
84100	ARL6	HP:0000662	Nyctalopia	7/7	OMIM:600151
84100	ARL6	HP:0000668	Hypodontia	-	OMIM:209900
84100	ARL6	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
84100	ARL6	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
84100	ARL6	HP:0004322	Short stature	HP:0040282	ORPHA:110
84100	ARL6	HP:0030631	Hyperautofluorescent macular lesion	1/1	OMIM:209900
84100	ARL6	HP:0012743	Abdominal obesity	1/1	OMIM:209900
84100	ARL6	HP:0000739	Anxiety	HP:0040283	ORPHA:110
84100	ARL6	HP:0000736	Short attention span	HP:0040282	ORPHA:110
84100	ARL6	HP:0000750	Delayed speech and language development	-	OMIM:209900
84100	ARL6	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
84100	ARL6	HP:0000716	Depression	HP:0040282	ORPHA:110
84100	ARL6	HP:0000717	Autism	HP:0040282	ORPHA:110
84100	ARL6	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
84100	ARL6	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
84100	ARL6	HP:0011463	Childhood onset	4/9	OMIM:209900
84100	ARL6	HP:0011463	Childhood onset	3/19	OMIM:180100
84100	ARL6	HP:0011462	Young adult onset	8/19	OMIM:180100
84100	ARL6	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
84100	ARL6	HP:0000789	Infertility	HP:0040283	ORPHA:110
84100	ARL6	HP:0000786	Primary amenorrhea	2/2	OMIM:209900
84100	ARL6	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
84100	ARL6	HP:0030786	Photopsia	HP:0040283	ORPHA:791
84100	ARL6	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
84100	ARL6	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
84100	ARL6	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
84100	ARL6	HP:0000855	Insulin resistance	1/1	OMIM:209900
84100	ARL6	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
84100	ARL6	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
84100	ARL6	HP:0000819	Diabetes mellitus	7/22	OMIM:209900
84100	ARL6	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
84100	ARL6	HP:0000822	Hypertension	-	OMIM:209900
84100	ARL6	HP:0000822	Hypertension	HP:0040282	ORPHA:110
84100	ARL6	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
84100	ARL6	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
84100	ARL6	HP:0003241	External genital hypoplasia	-	OMIM:600151
84100	ARL6	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
84100	ARL6	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
84100	ARL6	HP:0100259	Postaxial polydactyly	21/33	OMIM:209900
84100	ARL6	HP:0100259	Postaxial polydactyly	31/31	OMIM:600151
84100	ARL6	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
84100	ARL6	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
84100	ARL6	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
84100	ARL6	HP:0000256	Macrocephaly	-	OMIM:209900
84100	ARL6	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
84100	ARL6	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
84100	ARL6	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
84100	ARL6	HP:0007737	Bone spicule pigmentation of the retina	3/3	OMIM:209900
84100	ARL6	HP:0000218	High palate	1/1	OMIM:209900
84100	ARL6	HP:0000218	High palate	HP:0040282	ORPHA:110
84100	ARL6	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
84100	ARL6	HP:0001513	Obesity	11/12	OMIM:209900
84100	ARL6	HP:0001513	Obesity	HP:0040281	ORPHA:110
84100	ARL6	HP:0001513	Obesity	23/31	OMIM:600151
84100	ARL6	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
84100	ARL6	HP:0007843	Attenuation of retinal blood vessels	4/4	OMIM:209900
84100	ARL6	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
84100	ARL6	HP:0012393	Allergy	-	OMIM:209900
84100	ARL6	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
84100	ARL6	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
84100	ARL6	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
84100	ARL6	HP:0000388	Otitis media	HP:0040283	ORPHA:110
84100	ARL6	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
84100	ARL6	HP:0005180	Tricuspid regurgitation	1/12	OMIM:600151
84100	ARL6	HP:0000365	Hearing impairment	-	OMIM:209900
84100	ARL6	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
84100	ARL6	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
84100	ARL6	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
84100	ARL6	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
84100	ARL6	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
84100	ARL6	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
84100	ARL6	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
84100	ARL6	HP:0031605	Abnormality of fundus pigmentation	-	OMIM:268000
84100	ARL6	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
84100	ARL6	HP:0007994	Peripheral visual field loss	1/1	OMIM:209900
84100	ARL6	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
84100	ARL6	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
84100	ARL6	HP:0000400	Macrotia	HP:0040283	ORPHA:110
84100	ARL6	HP:0001712	Left ventricular hypertrophy	-	OMIM:209900
84100	ARL6	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
84100	ARL6	HP:0000483	Astigmatism	3/3	OMIM:209900
84100	ARL6	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
84100	ARL6	HP:0000486	Strabismus	-	OMIM:209900
84100	ARL6	HP:0000486	Strabismus	HP:0040283	ORPHA:110
84100	ARL6	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
84100	ARL6	HP:0000470	Short neck	HP:0040283	ORPHA:110
84100	ARL6	HP:0001773	Short foot	-	OMIM:209900
84100	ARL6	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
84100	ARL6	HP:0001769	Broad foot	-	OMIM:209900
84100	ARL6	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
84100	ARL6	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
84100	ARL6	HP:0000518	Cataract	2/13	OMIM:209900
84100	ARL6	HP:0000518	Cataract	HP:0040283	ORPHA:110
84100	ARL6	HP:0000510	Rod-cone dystrophy	24/24	OMIM:209900
84100	ARL6	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
84100	ARL6	HP:0000510	Rod-cone dystrophy	-	OMIM:600151
84100	ARL6	HP:0000510	Rod-cone dystrophy	-	OMIM:613575
84100	ARL6	HP:0000510	Rod-cone dystrophy	20/20	OMIM:268000
84100	ARL6	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
84100	ARL6	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
84100	ARL6	HP:0001829	Foot polydactyly	-	OMIM:209900
84100	ARL6	HP:0000508	Ptosis	2/3	OMIM:209900
84100	ARL6	HP:0000505	Visual impairment	7/7	OMIM:600151
84100	ARL6	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
84100	ARL6	HP:0001830	Postaxial foot polydactyly	1/1	OMIM:209900
84100	ARL6	HP:0000501	Glaucoma	-	OMIM:209900
84100	ARL6	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
84100	ARL6	HP:0000580	Pigmentary retinopathy	7/7	OMIM:600151
84100	ARL6	HP:0000575	Scotoma	5/18	OMIM:180100
84100	ARL6	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
84100	ARL6	HP:0000556	Retinal dystrophy	-	OMIM:209900
84100	ARL6	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
84100	ARL6	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
84100	ARL6	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
84100	ARL6	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
84100	ARL6	HP:0000546	Retinal degeneration	1/1	OMIM:209900
84100	ARL6	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
84100	ARL6	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
84100	ARL6	HP:0000543	Optic disc pallor	1/1	OMIM:180100
84100	ARL6	HP:0000545	Myopia	6/13	OMIM:209900
84100	ARL6	HP:0000545	Myopia	-	OMIM:180100
84126	ATRIP	HP:0001249	Intellectual disability	HP:0040281	ORPHA:808
84126	ATRIP	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:808
84126	ATRIP	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:808
84126	ATRIP	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:808
84126	ATRIP	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:808
84126	ATRIP	HP:0002650	Scoliosis	HP:0040283	ORPHA:808
84126	ATRIP	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:808
84126	ATRIP	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:808
84126	ATRIP	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:808
84126	ATRIP	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:808
84126	ATRIP	HP:0009804	Tooth agenesis	HP:0040282	ORPHA:808
84126	ATRIP	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:808
84126	ATRIP	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:808
84126	ATRIP	HP:0011342	Mild global developmental delay	HP:0040281	ORPHA:808
84126	ATRIP	HP:0004322	Short stature	HP:0040281	ORPHA:808
84126	ATRIP	HP:0004326	Cachexia	HP:0040281	ORPHA:808
84126	ATRIP	HP:0000275	Narrow face	HP:0040281	ORPHA:808
84126	ATRIP	HP:0000252	Microcephaly	HP:0040281	ORPHA:808
84126	ATRIP	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:808
84126	ATRIP	HP:0000387	Absent earlobe	HP:0040282	ORPHA:808
84126	ATRIP	HP:0000363	Abnormal earlobe morphology	HP:0040282	ORPHA:808
84126	ATRIP	HP:0000347	Micrognathia	HP:0040281	ORPHA:808
84126	ATRIP	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:808
84126	ATRIP	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:808
84126	ATRIP	HP:0001852	Sandal gap	HP:0040281	ORPHA:808
84126	ATRIP	HP:0000501	Glaucoma	HP:0040282	ORPHA:808
84131	CEP78	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
84131	CEP78	HP:0001105	Retinal atrophy	1/3	OMIM:617236
84131	CEP78	HP:0001251	Ataxia	HP:0040282	ORPHA:231183
84131	CEP78	HP:0012047	Hemeralopia	1/3	OMIM:617236
84131	CEP78	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
84131	CEP78	HP:0000007	Autosomal recessive inheritance	-	OMIM:617236
84131	CEP78	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
84131	CEP78	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
84131	CEP78	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
84131	CEP78	HP:0007641	Dyschromatopsia	1/3	OMIM:617236
84131	CEP78	HP:0100753	Schizophrenia	HP:0040283	ORPHA:231183
84131	CEP78	HP:0008499	High hypermetropia	HP:0040282	ORPHA:231183
84131	CEP78	HP:0003621	Juvenile onset	8/19	OMIM:180100
84131	CEP78	HP:0000639	Nystagmus	1/3	OMIM:617236
84131	CEP78	HP:0000613	Photophobia	1/3	OMIM:617236
84131	CEP78	HP:0000608	Macular degeneration	3/3	OMIM:617236
84131	CEP78	HP:0000662	Nyctalopia	26/28	OMIM:180100
84131	CEP78	HP:0000662	Nyctalopia	HP:0040281	ORPHA:231183
84131	CEP78	HP:0000738	Hallucinations	HP:0040283	ORPHA:231183
84131	CEP78	HP:0000739	Anxiety	HP:0040283	ORPHA:231183
84131	CEP78	HP:0000716	Depression	HP:0040283	ORPHA:231183
84131	CEP78	HP:0011463	Childhood onset	3/19	OMIM:180100
84131	CEP78	HP:0011463	Childhood onset	2/3	OMIM:617236
84131	CEP78	HP:0011462	Young adult onset	8/19	OMIM:180100
84131	CEP78	HP:0011462	Young adult onset	1/3	OMIM:617236
84131	CEP78	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
84131	CEP78	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:231183
84131	CEP78	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
84131	CEP78	HP:0012377	Hemianopia	HP:0040281	ORPHA:231183
84131	CEP78	HP:0000375	Abnormal cochlea morphology	HP:0040281	ORPHA:231183
84131	CEP78	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:617236
84131	CEP78	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:231183
84131	CEP78	HP:0000483	Astigmatism	HP:0040282	ORPHA:231183
84131	CEP78	HP:0001756	Vestibular hyporeflexia	HP:0040281	ORPHA:231183
84131	CEP78	HP:0000518	Cataract	HP:0040282	ORPHA:231183
84131	CEP78	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
84131	CEP78	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:231183
84131	CEP78	HP:0000505	Visual impairment	3/3	OMIM:617236
84131	CEP78	HP:0000575	Scotoma	5/18	OMIM:180100
84131	CEP78	HP:0000575	Scotoma	HP:0040281	ORPHA:231183
84131	CEP78	HP:0000572	Visual loss	HP:0040281	ORPHA:231183
84131	CEP78	HP:0000543	Optic disc pallor	1/1	OMIM:180100
84131	CEP78	HP:0000545	Myopia	-	OMIM:180100
84133	ZNRF3	HP:0025134	Increased serum estradiol	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0025269	Panic attack	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0000080	Abnormality of reproductive system physiology	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0025380	Increased circulating androstenedione concentration	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0012030	Increased urinary cortisol level	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0001324	Muscle weakness	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0025436	Elevated serum 11-deoxycortisol	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0002027	Abdominal pain	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0011748	Adrenocorticotropic hormone deficiency	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0001065	Striae distensae	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0001962	Palpitations	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0004324	Increased body weight	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0000737	Irritability	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0000739	Anxiety	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0003110	Abnormality of urine homeostasis	HP:0040283	ORPHA:1501
84133	ZNRF3	HP:0003118	Increased circulating cortisol level	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0000859	Increased circulating aldosterone concentration	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0000822	Hypertension	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0000998	Hypertrichosis	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0000975	Hyperhidrosis	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0030078	Lung adenocarcinoma	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0002900	Hypokalemia	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0006744	Adrenocortical carcinoma	HP:0040280	ORPHA:1501
84133	ZNRF3	HP:0001824	Weight loss	HP:0040282	ORPHA:1501
84133	ZNRF3	HP:0030348	Increased circulating androgen concentration	HP:0040282	ORPHA:1501
84138	SLC7A6OS	HP:0001268	Mental deterioration	3/6	OMIM:619191
84138	SLC7A6OS	HP:0001288	Gait disturbance	6/6	OMIM:619191
84138	SLC7A6OS	HP:0001251	Ataxia	6/6	OMIM:619191
84138	SLC7A6OS	HP:0001260	Dysarthria	4/6	OMIM:619191
84138	SLC7A6OS	HP:0000007	Autosomal recessive inheritance	-	OMIM:619191
84138	SLC7A6OS	HP:0001336	Myoclonus	6/6	OMIM:619191
84138	SLC7A6OS	HP:0001310	Dysmetria	3/6	OMIM:619191
84138	SLC7A6OS	HP:0002069	Bilateral tonic-clonic seizure	5/6	OMIM:619191
84138	SLC7A6OS	HP:0007018	Attention deficit hyperactivity disorder	1/6	OMIM:619191
84138	SLC7A6OS	HP:0003621	Juvenile onset	4/6	OMIM:619191
84138	SLC7A6OS	HP:0000739	Anxiety	1/6	OMIM:619191
84138	SLC7A6OS	HP:0000716	Depression	2/6	OMIM:619191
84138	SLC7A6OS	HP:0011462	Young adult onset	2/6	OMIM:619191
84140	FAM161A	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
84140	FAM161A	HP:0001133	Constriction of peripheral visual field	-	OMIM:606068
84140	FAM161A	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
84140	FAM161A	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
84140	FAM161A	HP:0000007	Autosomal recessive inheritance	-	OMIM:606068
84140	FAM161A	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
84140	FAM161A	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
84140	FAM161A	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
84140	FAM161A	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
84140	FAM161A	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
84140	FAM161A	HP:0003621	Juvenile onset	8/19	OMIM:180100
84140	FAM161A	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
84140	FAM161A	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
84140	FAM161A	HP:0000618	Blindness	HP:0040281	ORPHA:791
84140	FAM161A	HP:0000613	Photophobia	HP:0040281	ORPHA:791
84140	FAM161A	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
84140	FAM161A	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
84140	FAM161A	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
84140	FAM161A	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
84140	FAM161A	HP:0000662	Nyctalopia	-	OMIM:606068
84140	FAM161A	HP:0000662	Nyctalopia	26/28	OMIM:180100
84140	FAM161A	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
84140	FAM161A	HP:0011463	Childhood onset	3/19	OMIM:180100
84140	FAM161A	HP:0011462	Young adult onset	8/19	OMIM:180100
84140	FAM161A	HP:0030786	Photopsia	HP:0040283	ORPHA:791
84140	FAM161A	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
84140	FAM161A	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
84140	FAM161A	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
84140	FAM161A	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
84140	FAM161A	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
84140	FAM161A	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
84140	FAM161A	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
84140	FAM161A	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:606068
84140	FAM161A	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
84140	FAM161A	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
84140	FAM161A	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
84140	FAM161A	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
84140	FAM161A	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
84140	FAM161A	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
84140	FAM161A	HP:0000510	Rod-cone dystrophy	-	OMIM:606068
84140	FAM161A	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
84140	FAM161A	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
84140	FAM161A	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
84140	FAM161A	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
84140	FAM161A	HP:0000575	Scotoma	5/18	OMIM:180100
84140	FAM161A	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
84140	FAM161A	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
84140	FAM161A	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
84140	FAM161A	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
84140	FAM161A	HP:0000543	Optic disc pallor	-	OMIM:606068
84140	FAM161A	HP:0000543	Optic disc pallor	1/1	OMIM:180100
84140	FAM161A	HP:0000545	Myopia	-	OMIM:180100
84146	ZNF644	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
84146	ZNF644	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
84146	ZNF644	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
84146	ZNF644	HP:0000006	Autosomal dominant inheritance	-	OMIM:614167
84146	ZNF644	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
84146	ZNF644	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
84146	ZNF644	HP:0003621	Juvenile onset	8/19	OMIM:180100
84146	ZNF644	HP:0000662	Nyctalopia	26/28	OMIM:180100
84146	ZNF644	HP:0011463	Childhood onset	10/10	OMIM:614167
84146	ZNF644	HP:0011463	Childhood onset	3/19	OMIM:180100
84146	ZNF644	HP:0011462	Young adult onset	8/19	OMIM:180100
84146	ZNF644	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
84146	ZNF644	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
84146	ZNF644	HP:0011003	High myopia	10/10	OMIM:614167
84146	ZNF644	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
84146	ZNF644	HP:0000575	Scotoma	5/18	OMIM:180100
84146	ZNF644	HP:0000543	Optic disc pallor	1/1	OMIM:180100
84146	ZNF644	HP:0000545	Myopia	-	OMIM:180100
84148	KAT8	HP:0010862	Delayed fine motor development	8/8	OMIM:618974
84148	KAT8	HP:0001250	Seizure	5/9	OMIM:618974
84148	KAT8	HP:0001263	Global developmental delay	-	OMIM:618974
84148	KAT8	HP:0008872	Feeding difficulties in infancy	3/9	OMIM:618974
84148	KAT8	HP:0000006	Autosomal dominant inheritance	-	OMIM:618974
84148	KAT8	HP:0002714	Downturned corners of mouth	-	OMIM:618974
84148	KAT8	HP:0002079	Hypoplasia of the corpus callosum	2/9	OMIM:618974
84148	KAT8	HP:0002119	Ventriculomegaly	4/9	OMIM:618974
84148	KAT8	HP:0002194	Delayed gross motor development	9/9	OMIM:618974
84148	KAT8	HP:0007018	Attention deficit hyperactivity disorder	1/9	OMIM:618974
84148	KAT8	HP:0007165	Periventricular heterotopia	3/9	OMIM:618974
84148	KAT8	HP:0004209	Clinodactyly of the 5th finger	1/9	OMIM:618974
84148	KAT8	HP:0000601	Hypotelorism	1/9	OMIM:618974
84148	KAT8	HP:0000750	Delayed speech and language development	9/9	OMIM:618974
84148	KAT8	HP:0000729	Autistic behavior	2/9	OMIM:618974
84148	KAT8	HP:0000286	Epicanthus	2/9	OMIM:618974
84148	KAT8	HP:0000369	Low-set ears	3/9	OMIM:618974
84148	KAT8	HP:0001643	Patent ductus arteriosus	1/9	OMIM:618974
84148	KAT8	HP:0001629	Ventricular septal defect	1/9	OMIM:618974
84148	KAT8	HP:0001631	Atrial septal defect	1/9	OMIM:618974
84148	KAT8	HP:0005280	Depressed nasal bridge	2/9	OMIM:618974
84148	KAT8	HP:0012471	Thick vermilion border	1/9	OMIM:618974
84148	KAT8	HP:0000426	Prominent nasal bridge	1/9	OMIM:618974
84148	KAT8	HP:0001845	Overlapping toe	2/9	OMIM:618974
84148	KAT8	HP:0000506	Telecanthus	1/9	OMIM:618974
84148	KAT8	HP:0000582	Upslanted palpebral fissure	1/9	OMIM:618974
84148	KAT8	HP:0000565	Esotropia	2/9	OMIM:618974
84148	KAT8	HP:0000540	Hypermetropia	3/9	OMIM:618974
84153	RNASEH2C	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0001298	Encephalopathy	-	OMIM:610329
84153	RNASEH2C	HP:0001290	Generalized hypotonia	-	OMIM:610329
84153	RNASEH2C	HP:0001276	Hypertonia	HP:0040281	ORPHA:51
84153	RNASEH2C	HP:0001288	Gait disturbance	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0001250	Seizure	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0001252	Hypotonia	-	OMIM:610329
84153	RNASEH2C	HP:0001263	Global developmental delay	HP:0040281	ORPHA:51
84153	RNASEH2C	HP:0001257	Spasticity	-	OMIM:610329
84153	RNASEH2C	HP:0001257	Spasticity	HP:0040281	ORPHA:51
84153	RNASEH2C	HP:0002514	Cerebral calcification	-	OMIM:610329
84153	RNASEH2C	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:610329
84153	RNASEH2C	HP:0003819	Death in childhood	-	OMIM:610329
84153	RNASEH2C	HP:0001369	Arthritis	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0000054	Micropenis	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0001347	Hyperreflexia	-	OMIM:610329
84153	RNASEH2C	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0001332	Dystonia	-	OMIM:610329
84153	RNASEH2C	HP:0001332	Dystonia	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0000007	Autosomal recessive inheritance	-	OMIM:610329
84153	RNASEH2C	HP:0001337	Tremor	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0002650	Scoliosis	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0001433	Hepatosplenomegaly	-	OMIM:610329
84153	RNASEH2C	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:610329
84153	RNASEH2C	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0100578	Lipoatrophy	HP:0040284	ORPHA:51
84153	RNASEH2C	HP:0002139	Arrhinencephaly	HP:0040281	ORPHA:51
84153	RNASEH2C	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0002132	Porencephalic cyst	HP:0040281	ORPHA:51
84153	RNASEH2C	HP:0002187	Intellectual disability, profound	HP:0040281	ORPHA:51
84153	RNASEH2C	HP:0011834	Moyamoya phenomenon	HP:0040284	ORPHA:51
84153	RNASEH2C	HP:0003552	Muscle stiffness	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0200149	CSF lymphocytic pleiocytosis	-	OMIM:610329
84153	RNASEH2C	HP:0009709	Increased CSF interferon alpha	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0009710	Chilblains	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0009710	Chilblains	-	OMIM:610329
84153	RNASEH2C	HP:0009704	Chronic CSF lymphocytosis	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0004809	Neonatal alloimmune thrombocytopenia	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0007076	Extrapyramidal muscular rigidity	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0007052	Multifocal cerebral white matter abnormalities	HP:0040281	ORPHA:51
84153	RNASEH2C	HP:0001063	Acrocyanosis	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0002376	Developmental regression	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0002371	Loss of speech	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0003676	Progressive	-	OMIM:610329
84153	RNASEH2C	HP:0002315	Headache	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0100614	Myositis	HP:0040284	ORPHA:51
84153	RNASEH2C	HP:0001087	Developmental glaucoma	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0004963	Calcification of the aorta	HP:0040284	ORPHA:51
84153	RNASEH2C	HP:0004942	Aortic aneurysm	HP:0040284	ORPHA:51
84153	RNASEH2C	HP:0005550	Chronic lymphatic leukemia	HP:0040284	ORPHA:51
84153	RNASEH2C	HP:0000639	Nystagmus	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0000639	Nystagmus	-	OMIM:610329
84153	RNASEH2C	HP:0001955	Unexplained fevers	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0000625	Eyelid coloboma	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0011344	Severe global developmental delay	-	OMIM:610329
84153	RNASEH2C	HP:0004322	Short stature	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0000737	Irritability	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0030880	Raynaud phenomenon	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0000958	Dry skin	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0000965	Cutis marmorata	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0040140	Degeneration of the striatum	HP:0040284	ORPHA:51
84153	RNASEH2C	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0000253	Progressive microcephaly	-	OMIM:610329
84153	RNASEH2C	HP:0000252	Microcephaly	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0030038	Enchondroma	HP:0040284	ORPHA:51
84153	RNASEH2C	HP:0006579	Prolonged neonatal jaundice	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0001609	Hoarse voice	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:610329
84153	RNASEH2C	HP:0000369	Low-set ears	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0002960	Autoimmunity	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:51
84153	RNASEH2C	HP:0012490	Panniculitis	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0012448	Delayed myelination	-	OMIM:610329
84153	RNASEH2C	HP:0012444	Brain atrophy	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0000508	Ptosis	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0000501	Glaucoma	HP:0040283	ORPHA:51
84153	RNASEH2C	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040282	ORPHA:51
84153	RNASEH2C	HP:0001873	Thrombocytopenia	-	OMIM:610329
84162	BLTP1	HP:0001188	Hand clenching	-	OMIM:617822
84162	BLTP1	HP:0001181	Adducted thumb	-	OMIM:617822
84162	BLTP1	HP:0001290	Generalized hypotonia	-	OMIM:617822
84162	BLTP1	HP:0001250	Seizure	HP:0040284	OMIM:617822
84162	BLTP1	HP:0001249	Intellectual disability	-	OMIM:617822
84162	BLTP1	HP:0001263	Global developmental delay	-	OMIM:617822
84162	BLTP1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	-	OMIM:617822
84162	BLTP1	HP:0000046	Small scrotum	-	OMIM:617822
84162	BLTP1	HP:0000054	Micropenis	-	OMIM:617822
84162	BLTP1	HP:0001357	Plagiocephaly	-	OMIM:617822
84162	BLTP1	HP:0001344	Absent speech	-	OMIM:617822
84162	BLTP1	HP:0001339	Lissencephaly	-	OMIM:617822
84162	BLTP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617822
84162	BLTP1	HP:0001305	Dandy-Walker malformation	1/1	OMIM:617822
84162	BLTP1	HP:0001321	Cerebellar hypoplasia	-	OMIM:617822
84162	BLTP1	HP:0002119	Ventriculomegaly	-	OMIM:617822
84162	BLTP1	HP:0010557	Overlapping fingers	-	OMIM:617822
84162	BLTP1	HP:0003577	Congenital onset	-	OMIM:617822
84162	BLTP1	HP:0002202	Pleural effusion	1/1	OMIM:617822
84162	BLTP1	HP:0002282	Gray matter heterotopia	-	OMIM:617822
84162	BLTP1	HP:0007033	Cerebellar dysplasia	-	OMIM:617822
84162	BLTP1	HP:0002365	Hypoplasia of the brainstem	-	OMIM:617822
84162	BLTP1	HP:0000601	Hypotelorism	-	OMIM:617822
84162	BLTP1	HP:0000657	Oculomotor apraxia	-	OMIM:617822
84162	BLTP1	HP:0012725	Cutaneous syndactyly	-	OMIM:617822
84162	BLTP1	HP:0000708	Atypical behavior	-	OMIM:617822
84162	BLTP1	HP:0012793	Kinked brainstem	-	OMIM:617822
84162	BLTP1	HP:0003196	Short nose	-	OMIM:617822
84162	BLTP1	HP:0000969	Edema	-	OMIM:617822
84162	BLTP1	HP:0000256	Macrocephaly	-	OMIM:617822
84162	BLTP1	HP:0030084	Clinodactyly	-	OMIM:617822
84162	BLTP1	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:617822
84162	BLTP1	HP:0000238	Hydrocephalus	1/1	OMIM:617822
84162	BLTP1	HP:0000218	High palate	-	OMIM:617822
84162	BLTP1	HP:0012385	Camptodactyly	-	OMIM:617822
84162	BLTP1	HP:0000358	Posteriorly rotated ears	-	OMIM:617822
84162	BLTP1	HP:0001698	Pericardial effusion	HP:0040284	OMIM:617822
84162	BLTP1	HP:0000369	Low-set ears	-	OMIM:617822
84162	BLTP1	HP:0000347	Micrognathia	1/1	OMIM:617822
84162	BLTP1	HP:0000316	Hypertelorism	-	OMIM:617822
84162	BLTP1	HP:0005280	Depressed nasal bridge	-	OMIM:617822
84162	BLTP1	HP:0000486	Strabismus	-	OMIM:617822
84162	BLTP1	HP:0000476	Cystic hygroma	-	OMIM:617822
84162	BLTP1	HP:0000496	Abnormality of eye movement	-	OMIM:617822
84162	BLTP1	HP:0000463	Anteverted nares	-	OMIM:617822
84162	BLTP1	HP:0000465	Webbed neck	-	OMIM:617822
84162	BLTP1	HP:0001760	Abnormal foot morphology	-	OMIM:617822
84162	BLTP1	HP:0001762	Talipes equinovarus	1/1	OMIM:617822
84162	BLTP1	HP:0000518	Cataract	-	OMIM:617822
84162	BLTP1	HP:0001845	Overlapping toe	-	OMIM:617822
84162	BLTP1	HP:0000582	Upslanted palpebral fissure	-	OMIM:617822
84162	BLTP1	HP:0000540	Hypermetropia	-	OMIM:617822
84163	GTF2IRD2	HP:0001181	Adducted thumb	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001297	Stroke	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0001252	Hypotonia	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0001251	Ataxia	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0001260	Dysarthria	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001257	Spasticity	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000093	Proteinuria	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000075	Renal duplication	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001387	Joint stiffness	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000014	Abnormality of the bladder	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0001361	Nystagmus-induced head nodding	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000025	Functional abnormality of male internal genitalia	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001337	Tremor	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0001310	Dysmetria	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0002650	Scoliosis	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0002623	Overriding aorta	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0000158	Macroglossia	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0000154	Wide mouth	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000125	Pelvic kidney	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0002024	Malabsorption	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0002019	Constipation	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0002027	Abdominal pain	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0100539	Periorbital edema	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0002141	Gait imbalance	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0002183	Phonophobia	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0010526	Dysgraphia	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0002253	Colonic diverticula	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0100785	Insomnia	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0002376	Developmental regression	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0010807	Open bite	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0008499	High hypermetropia	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0010780	Hyperacusis	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0002308	Chiari malformation	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0004295	Abnormal gastric mucosa morphology	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000635	Blue irides	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000691	Microdontia	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000670	Carious teeth	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0000668	Hypodontia	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0004322	Short stature	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0004305	Involuntary movements	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0004381	Supravalvular aortic stenosis	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0100025	Overfriendliness	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000739	Anxiety	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0000716	Depression	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0000717	Autism	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0004428	Elfin facies	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0003198	Myopathy	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0003196	Short nose	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0000826	Precocious puberty	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000822	Hypertension	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000960	Sacral dimple	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000939	Osteoporosis	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000938	Osteopenia	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0007720	Flat cornea	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000286	Epicanthus	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0000280	Coarse facial features	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0000275	Narrow face	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0002829	Arthralgia	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0002808	Kyphosis	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000252	Microcephaly	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0001582	Redundant skin	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0002857	Genu valgum	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001513	Obesity	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0001609	Hoarse voice	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0001618	Dysphonia	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000343	Long philtrum	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000337	Broad forehead	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000348	High forehead	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0000347	Micrognathia	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000307	Pointed chin	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0007957	Corneal opacity	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000400	Macrotia	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0000486	Strabismus	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000485	Megalocornea	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0000464	Abnormality of the neck	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0001763	Pes planus	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000411	Protruding ear	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0000518	Cataract	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001822	Hallux valgus	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000505	Visual impairment	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000501	Glaucoma	HP:0040283	ORPHA:904
84163	GTF2IRD2	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:904
84163	GTF2IRD2	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:904
84163	GTF2IRD2	HP:0000545	Myopia	HP:0040283	ORPHA:904
84168	ANTXR1	HP:0001136	Retinal arteriolar tortuosity	3/4	OMIM:230740
84168	ANTXR1	HP:0009928	Thick nasal alae	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0009891	Underdeveloped supraorbital ridges	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0001270	Motor delay	HP:0040284	OMIM:230740
84168	ANTXR1	HP:0001250	Seizure	HP:0040284	OMIM:230740
84168	ANTXR1	HP:0001249	Intellectual disability	HP:0040284	OMIM:230740
84168	ANTXR1	HP:0002557	Hypoplastic nipples	-	OMIM:230740
84168	ANTXR1	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:2067
84168	ANTXR1	HP:0001382	Joint hypermobility	2/4	OMIM:230740
84168	ANTXR1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0001357	Plagiocephaly	3/4	OMIM:230740
84168	ANTXR1	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:230740
84168	ANTXR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:602089
84168	ANTXR1	HP:0002650	Scoliosis	-	OMIM:230740
84168	ANTXR1	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040282	ORPHA:2067
84168	ANTXR1	HP:0002621	Atherosclerosis	HP:0040283	ORPHA:2067
84168	ANTXR1	HP:0000179	Thick lower lip vermilion	4/4	OMIM:230740
84168	ANTXR1	HP:0000174	Abnormal palate morphology	HP:0040282	ORPHA:2067
84168	ANTXR1	HP:0001476	Delayed closure of the anterior fontanelle	4/4	OMIM:230740
84168	ANTXR1	HP:0000141	Amenorrhea	HP:0040283	ORPHA:2067
84168	ANTXR1	HP:0000135	Hypogonadism	HP:0040283	ORPHA:2067
84168	ANTXR1	HP:0002705	High, narrow palate	-	OMIM:230740
84168	ANTXR1	HP:0002750	Delayed skeletal maturation	3/4	OMIM:230740
84168	ANTXR1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0002007	Frontal bossing	6/6	OMIM:230740
84168	ANTXR1	HP:0002007	Frontal bossing	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:2067
84168	ANTXR1	HP:0011800	Midface retrusion	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0100540	Palpebral edema	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0030939	Palpebral thickening	2/2	OMIM:230740
84168	ANTXR1	HP:0002119	Ventriculomegaly	HP:0040284	OMIM:230740
84168	ANTXR1	HP:0010609	Skin tags	HP:0040282	ORPHA:2067
84168	ANTXR1	HP:0002164	Nail dysplasia	-	OMIM:230740
84168	ANTXR1	HP:0003593	Infantile onset	2/2	OMIM:602089
84168	ANTXR1	HP:0002240	Hepatomegaly	-	OMIM:230740
84168	ANTXR1	HP:0002234	Early balding	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0010628	Facial palsy	1/4	OMIM:230740
84168	ANTXR1	HP:0003510	Severe short stature	2/2	OMIM:230740
84168	ANTXR1	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:2067
84168	ANTXR1	HP:0001028	Hemangioma	HP:0040283	ORPHA:2067
84168	ANTXR1	HP:0001043	Prominent scalp veins	-	OMIM:230740
84168	ANTXR1	HP:0002353	EEG abnormality	HP:0040284	OMIM:230740
84168	ANTXR1	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:2067
84168	ANTXR1	HP:0100607	Dysmenorrhea	HP:0040283	ORPHA:2067
84168	ANTXR1	HP:0200040	Epidermoid cyst	-	OMIM:230740
84168	ANTXR1	HP:0005576	Tubulointerstitial fibrosis	-	OMIM:230740
84168	ANTXR1	HP:0000639	Nystagmus	2/4	OMIM:230740
84168	ANTXR1	HP:0000639	Nystagmus	HP:0040283	ORPHA:2067
84168	ANTXR1	HP:0000648	Optic atrophy	3/4	OMIM:230740
84168	ANTXR1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:2067
84168	ANTXR1	HP:0000613	Photophobia	-	OMIM:230740
84168	ANTXR1	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0000653	Sparse eyelashes	4/4	OMIM:230740
84168	ANTXR1	HP:0000653	Sparse eyelashes	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0004322	Short stature	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0004331	Decreased skull ossification	HP:0040283	ORPHA:2067
84168	ANTXR1	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:2067
84168	ANTXR1	HP:0000706	Eruption failure	6/6	OMIM:230740
84168	ANTXR1	HP:0000798	Oligozoospermia	HP:0040283	ORPHA:2067
84168	ANTXR1	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:2067
84168	ANTXR1	HP:0003196	Short nose	4/4	OMIM:230740
84168	ANTXR1	HP:0003187	Breast hypoplasia	-	OMIM:230740
84168	ANTXR1	HP:0000889	Abnormal clavicle morphology	HP:0040282	ORPHA:2067
84168	ANTXR1	HP:0045075	Sparse eyebrow	4/4	OMIM:230740
84168	ANTXR1	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:2067
84168	ANTXR1	HP:0008070	Sparse hair	2/2	OMIM:230740
84168	ANTXR1	HP:0000286	Epicanthus	3/4	OMIM:230740
84168	ANTXR1	HP:0001596	Alopecia	6/6	OMIM:230740
84168	ANTXR1	HP:0001596	Alopecia	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0001591	Bell-shaped thorax	-	OMIM:230740
84168	ANTXR1	HP:0000260	Wide anterior fontanel	-	OMIM:230740
84168	ANTXR1	HP:0000274	Small face	2/2	OMIM:230740
84168	ANTXR1	HP:0000270	Delayed cranial suture closure	-	OMIM:230740
84168	ANTXR1	HP:0001582	Redundant skin	-	OMIM:230740
84168	ANTXR1	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0001555	Asymmetry of the thorax	HP:0040283	ORPHA:2067
84168	ANTXR1	HP:0001537	Umbilical hernia	3/4	OMIM:230740
84168	ANTXR1	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:2067
84168	ANTXR1	HP:0001510	Growth delay	-	OMIM:230740
84168	ANTXR1	HP:0001510	Growth delay	HP:0040283	ORPHA:2067
84168	ANTXR1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2067
84168	ANTXR1	HP:0000369	Low-set ears	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0000343	Long philtrum	4/4	OMIM:230740
84168	ANTXR1	HP:0000343	Long philtrum	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0000337	Broad forehead	4/4	OMIM:230740
84168	ANTXR1	HP:0000337	Broad forehead	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0000336	Prominent supraorbital ridges	2/2	OMIM:230740
84168	ANTXR1	HP:0000348	High forehead	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0000347	Micrognathia	4/4	OMIM:230740
84168	ANTXR1	HP:0000347	Micrognathia	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0000316	Hypertelorism	4/4	OMIM:230740
84168	ANTXR1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:2067
84168	ANTXR1	HP:0005306	Capillary hemangioma	2/2	OMIM:602089
84168	ANTXR1	HP:0005280	Depressed nasal bridge	4/4	OMIM:230740
84168	ANTXR1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0000486	Strabismus	2/2	OMIM:230740
84168	ANTXR1	HP:0000485	Megalocornea	3/3	OMIM:230740
84168	ANTXR1	HP:0012471	Thick vermilion border	2/2	OMIM:230740
84168	ANTXR1	HP:0000463	Anteverted nares	4/4	OMIM:230740
84168	ANTXR1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:2067
84168	ANTXR1	HP:0011120	Concave nasal ridge	2/2	OMIM:230740
84168	ANTXR1	HP:0000453	Choanal atresia	HP:0040283	ORPHA:2067
84168	ANTXR1	HP:0000411	Protruding ear	-	OMIM:230740
84168	ANTXR1	HP:0000505	Visual impairment	HP:0040282	ORPHA:2067
84168	ANTXR1	HP:0000501	Glaucoma	-	OMIM:230740
84168	ANTXR1	HP:0000501	Glaucoma	HP:0040282	ORPHA:2067
84168	ANTXR1	HP:0000594	Shallow anterior chamber	2/3	OMIM:230740
84168	ANTXR1	HP:0000586	Shallow orbits	2/2	OMIM:230740
84168	ANTXR1	HP:0000563	Keratoconus	-	OMIM:230740
84168	ANTXR1	HP:0000563	Keratoconus	HP:0040282	ORPHA:2067
84168	ANTXR1	HP:0000565	Esotropia	2/4	OMIM:230740
84168	ANTXR1	HP:0000545	Myopia	HP:0040283	ORPHA:2067
84172	POLR1B	HP:0008551	Microtia	HP:0040282	ORPHA:861
84172	POLR1B	HP:0001249	Intellectual disability	0/6	OMIM:618939
84172	POLR1B	HP:0001263	Global developmental delay	HP:0040283	ORPHA:861
84172	POLR1B	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:861
84172	POLR1B	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000046	Small scrotum	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:861
84172	POLR1B	HP:0008872	Feeding difficulties in infancy	5/6	OMIM:618939
84172	POLR1B	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:618939
84172	POLR1B	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:861
84172	POLR1B	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:861
84172	POLR1B	HP:0000160	Narrow mouth	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000162	Glossoptosis	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000175	Cleft palate	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000175	Cleft palate	3/6	OMIM:618939
84172	POLR1B	HP:0000143	Rectovaginal fistula	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000154	Wide mouth	HP:0040283	ORPHA:861
84172	POLR1B	HP:0005990	Thyroid hypoplasia	HP:0040283	ORPHA:861
84172	POLR1B	HP:0002007	Frontal bossing	HP:0040282	ORPHA:861
84172	POLR1B	HP:0002006	Tessier cleft	HP:0040283	ORPHA:861
84172	POLR1B	HP:0011800	Midface retrusion	HP:0040281	ORPHA:861
84172	POLR1B	HP:0002084	Encephalocele	HP:0040283	ORPHA:861
84172	POLR1B	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:861
84172	POLR1B	HP:0009554	Preauricular hair displacement	HP:0040283	ORPHA:861
84172	POLR1B	HP:0009554	Preauricular hair displacement	1/6	OMIM:618939
84172	POLR1B	HP:0004887	Respiratory failure requiring assisted ventilation	3/6	OMIM:618939
84172	POLR1B	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040281	ORPHA:861
84172	POLR1B	HP:0002381	Aphasia	HP:0040283	ORPHA:861
84172	POLR1B	HP:0010807	Open bite	HP:0040281	ORPHA:861
84172	POLR1B	HP:0009804	Tooth agenesis	HP:0040282	ORPHA:861
84172	POLR1B	HP:0009795	Branchial fistula	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000643	Blepharospasm	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000612	Iris coloboma	HP:0040282	ORPHA:861
84172	POLR1B	HP:0000625	Eyelid coloboma	HP:0040282	ORPHA:861
84172	POLR1B	HP:0011386	Narrow internal auditory canal	HP:0040282	ORPHA:861
84172	POLR1B	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:861
84172	POLR1B	HP:0000652	Lower eyelid coloboma	3/6	OMIM:618939
84172	POLR1B	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:861
84172	POLR1B	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:861
84172	POLR1B	HP:0004348	Abnormality of bone mineral density	HP:0040281	ORPHA:861
84172	POLR1B	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:861
84172	POLR1B	HP:0011481	Abnormal lacrimal duct morphology	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000778	Hypoplasia of the thymus	HP:0040283	ORPHA:861
84172	POLR1B	HP:0005701	Multiple enchondromatosis	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000925	Abnormality of the vertebral column	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000834	Abnormality of the adrenal glands	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000278	Retrognathia	HP:0040281	ORPHA:861
84172	POLR1B	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:861
84172	POLR1B	HP:0000272	Malar flattening	6/6	OMIM:618939
84172	POLR1B	HP:0000272	Malar flattening	HP:0040281	ORPHA:861
84172	POLR1B	HP:0000252	Microcephaly	1/6	OMIM:618939
84172	POLR1B	HP:0000248	Brachycephaly	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000218	High palate	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:861
84172	POLR1B	HP:0001508	Failure to thrive	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:861
84172	POLR1B	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000356	Abnormality of the outer ear	HP:0040282	ORPHA:861
84172	POLR1B	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:861
84172	POLR1B	HP:0000370	Abnormality of the middle ear	HP:0040282	ORPHA:861
84172	POLR1B	HP:0000347	Micrognathia	5/6	OMIM:618939
84172	POLR1B	HP:0000347	Micrognathia	HP:0040281	ORPHA:861
84172	POLR1B	HP:0000316	Hypertelorism	HP:0040283	ORPHA:861
84172	POLR1B	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:861
84172	POLR1B	HP:0000324	Facial asymmetry	2/6	OMIM:618939
84172	POLR1B	HP:0000405	Conductive hearing impairment	5/6	OMIM:618939
84172	POLR1B	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:861
84172	POLR1B	HP:0000486	Strabismus	HP:0040282	ORPHA:861
84172	POLR1B	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:861
84172	POLR1B	HP:0000494	Downslanted palpebral fissures	6/6	OMIM:618939
84172	POLR1B	HP:0000453	Choanal atresia	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000452	Choanal stenosis	2/6	OMIM:618939
84172	POLR1B	HP:0000413	Atresia of the external auditory canal	HP:0040282	ORPHA:861
84172	POLR1B	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:861
84172	POLR1B	HP:0000518	Cataract	HP:0040283	ORPHA:861
84172	POLR1B	HP:0000505	Visual impairment	HP:0040282	ORPHA:861
84172	POLR1B	HP:0000561	Absent eyelashes	HP:0040282	ORPHA:861
84172	POLR1B	HP:0011219	Short face	HP:0040281	ORPHA:861
84172	POLR1B	HP:0000568	Microphthalmia	HP:0040283	ORPHA:861
84173	ELMOD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615429
84173	ELMOD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:619500
84173	ELMOD3	HP:0011462	Young adult onset	-	OMIM:619500
84173	ELMOD3	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:619500
84173	ELMOD3	HP:0001751	Abnormal vestibular function	0/9	OMIM:619500
84173	ELMOD3	HP:0000410	Mixed hearing impairment	6/6	OMIM:615429
84181	CHD6	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2108
84181	CHD6	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2108
84181	CHD6	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:2108
84181	CHD6	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:2108
84181	CHD6	HP:0000160	Narrow mouth	HP:0040282	ORPHA:2108
84181	CHD6	HP:0000162	Glossoptosis	HP:0040282	ORPHA:2108
84181	CHD6	HP:0000157	Abnormality of the tongue	HP:0040282	ORPHA:2108
84181	CHD6	HP:0002705	High, narrow palate	HP:0040282	ORPHA:2108
84181	CHD6	HP:0002779	Tracheomalacia	HP:0040283	ORPHA:2108
84181	CHD6	HP:0002757	Recurrent fractures	HP:0040282	ORPHA:2108
84181	CHD6	HP:0003363	Abdominal situs inversus	HP:0040283	ORPHA:2108
84181	CHD6	HP:0002007	Frontal bossing	HP:0040281	ORPHA:2108
84181	CHD6	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:2108
84181	CHD6	HP:0002231	Sparse body hair	HP:0040281	ORPHA:2108
84181	CHD6	HP:0010719	Abnormality of hair texture	HP:0040282	ORPHA:2108
84181	CHD6	HP:0003508	Proportionate short stature	HP:0040281	ORPHA:2108
84181	CHD6	HP:0200055	Small hand	HP:0040283	ORPHA:2108
84181	CHD6	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:2108
84181	CHD6	HP:0000639	Nystagmus	HP:0040283	ORPHA:2108
84181	CHD6	HP:0000695	Natal tooth	HP:0040282	ORPHA:2108
84181	CHD6	HP:0000653	Sparse eyelashes	HP:0040282	ORPHA:2108
84181	CHD6	HP:0004334	Dermal atrophy	HP:0040281	ORPHA:2108
84181	CHD6	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2108
84181	CHD6	HP:0004349	Reduced bone mineral density	HP:0040281	ORPHA:2108
84181	CHD6	HP:0000773	Short ribs	HP:0040281	ORPHA:2108
84181	CHD6	HP:0000929	Abnormal skull morphology	HP:0040283	ORPHA:2108
84181	CHD6	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:2108
84181	CHD6	HP:0000896	Rib exostoses	HP:0040281	ORPHA:2108
84181	CHD6	HP:0045075	Sparse eyebrow	HP:0040282	ORPHA:2108
84181	CHD6	HP:0008070	Sparse hair	HP:0040281	ORPHA:2108
84181	CHD6	HP:0001596	Alopecia	HP:0040281	ORPHA:2108
84181	CHD6	HP:0000272	Malar flattening	HP:0040282	ORPHA:2108
84181	CHD6	HP:0000235	Abnormal cranial suture/fontanelle morphology	HP:0040282	ORPHA:2108
84181	CHD6	HP:0000252	Microcephaly	HP:0040283	ORPHA:2108
84181	CHD6	HP:0000248	Brachycephaly	HP:0040281	ORPHA:2108
84181	CHD6	HP:0011069	Supernumerary tooth	HP:0040282	ORPHA:2108
84181	CHD6	HP:0000347	Micrognathia	HP:0040282	ORPHA:2108
84181	CHD6	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:2108
84181	CHD6	HP:0000486	Strabismus	HP:0040283	ORPHA:2108
84181	CHD6	HP:0001773	Short foot	HP:0040283	ORPHA:2108
84181	CHD6	HP:0000453	Choanal atresia	HP:0040283	ORPHA:2108
84181	CHD6	HP:0000444	Convex nasal ridge	HP:0040281	ORPHA:2108
84181	CHD6	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:2108
84181	CHD6	HP:0000519	Developmental cataract	HP:0040281	ORPHA:2108
84181	CHD6	HP:0000506	Telecanthus	HP:0040282	ORPHA:2108
84181	CHD6	HP:0000505	Visual impairment	HP:0040282	ORPHA:2108
84181	CHD6	HP:0000501	Glaucoma	HP:0040283	ORPHA:2108
84181	CHD6	HP:0000554	Uveitis	HP:0040283	ORPHA:2108
84181	CHD6	HP:0000568	Microphthalmia	HP:0040281	ORPHA:2108
84181	CHD6	HP:0000545	Myopia	HP:0040283	ORPHA:2108
84188	FAR1	HP:0001118	Juvenile cataract	HP:0040282	ORPHA:438178
84188	FAR1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
84188	FAR1	HP:0001293	Cranial nerve compression	-	OMIM:131300
84188	FAR1	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:438178
84188	FAR1	HP:0001285	Spastic tetraparesis	HP:0040282	ORPHA:438178
84188	FAR1	HP:0001285	Spastic tetraparesis	3/3	OMIM:616154
84188	FAR1	HP:0001250	Seizure	3/3	OMIM:616154
84188	FAR1	HP:0001250	Seizure	HP:0040282	ORPHA:438178
84188	FAR1	HP:0001252	Hypotonia	2/3	OMIM:616154
84188	FAR1	HP:0001252	Hypotonia	2/7	OMIM:615777
84188	FAR1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:438178
84188	FAR1	HP:0001249	Intellectual disability	5/7	OMIM:615777
84188	FAR1	HP:0001260	Dysarthria	3/12	OMIM:619338
84188	FAR1	HP:0001263	Global developmental delay	3/3	OMIM:616154
84188	FAR1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:438178
84188	FAR1	HP:0001263	Global developmental delay	-	OMIM:615777
84188	FAR1	HP:0001257	Spasticity	3/3	OMIM:616154
84188	FAR1	HP:0002540	Inability to walk	HP:0040283	ORPHA:438178
84188	FAR1	HP:0002553	Highly arched eyebrow	1/3	OMIM:616154
84188	FAR1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:438178
84188	FAR1	HP:0002515	Waddling gait	54/102	OMIM:131300
84188	FAR1	HP:0001382	Joint hypermobility	-	OMIM:615777
84188	FAR1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
84188	FAR1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
84188	FAR1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
84188	FAR1	HP:0001324	Muscle weakness	40/96	OMIM:131300
84188	FAR1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
84188	FAR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
84188	FAR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616154
84188	FAR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619338
84188	FAR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
84188	FAR1	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:438178
84188	FAR1	HP:0001305	Dandy-Walker malformation	1/3	OMIM:616154
84188	FAR1	HP:0002650	Scoliosis	12/14	OMIM:131300
84188	FAR1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
84188	FAR1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
84188	FAR1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
84188	FAR1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
84188	FAR1	HP:0000175	Cleft palate	2/7	OMIM:615777
84188	FAR1	HP:0008936	Axial hypotonia	6/12	OMIM:619338
84188	FAR1	HP:0002069	Bilateral tonic-clonic seizure	6/12	OMIM:619338
84188	FAR1	HP:0002059	Cerebral atrophy	1/3	OMIM:616154
84188	FAR1	HP:0003388	Easy fatigability	36/76	OMIM:131300
84188	FAR1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
84188	FAR1	HP:0002121	Generalized non-motor (absence) seizure	2/12	OMIM:619338
84188	FAR1	HP:0002188	Delayed CNS myelination	1/3	OMIM:616154
84188	FAR1	HP:0002187	Intellectual disability, profound	3/3	OMIM:616154
84188	FAR1	HP:0003593	Infantile onset	12/12	OMIM:619338
84188	FAR1	HP:0003510	Severe short stature	7/7	OMIM:615777
84188	FAR1	HP:0003698	Difficulty standing	HP:0040283	ORPHA:438178
84188	FAR1	HP:0002376	Developmental regression	1/1	OMIM:616154
84188	FAR1	HP:0002315	Headache	-	OMIM:131300
84188	FAR1	HP:0004976	Knee dislocation	6/7	OMIM:615777
84188	FAR1	HP:0002313	Spastic paraparesis	12/12	OMIM:619338
84188	FAR1	HP:0009803	Short phalanx of finger	-	OMIM:615777
84188	FAR1	HP:0009763	Limb pain	63/92	OMIM:131300
84188	FAR1	HP:0003621	Juvenile onset	-	OMIM:131300
84188	FAR1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
84188	FAR1	HP:0006855	Cerebellar vermis atrophy	1/3	OMIM:616154
84188	FAR1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
84188	FAR1	HP:6001056	Out-toeing	-	OMIM:131300
84188	FAR1	HP:0000651	Diplopia	-	OMIM:131300
84188	FAR1	HP:0001956	Truncal obesity	2/7	OMIM:615777
84188	FAR1	HP:0001903	Anemia	HP:0040283	OMIM:131300
84188	FAR1	HP:0010049	Short metacarpal	-	OMIM:615777
84188	FAR1	HP:0000678	Dental crowding	-	OMIM:615777
84188	FAR1	HP:0000670	Carious teeth	-	OMIM:131300
84188	FAR1	HP:0011304	Broad thumb	2/7	OMIM:615777
84188	FAR1	HP:0000668	Hypodontia	-	OMIM:615777
84188	FAR1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:438178
84188	FAR1	HP:0000664	Synophrys	-	OMIM:615777
84188	FAR1	HP:0004322	Short stature	HP:0040282	ORPHA:438178
84188	FAR1	HP:0004396	Poor appetite	-	OMIM:131300
84188	FAR1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
84188	FAR1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
84188	FAR1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
84188	FAR1	HP:0003026	Short long bone	7/7	OMIM:615777
84188	FAR1	HP:0031936	Delayed ability to walk	12/12	OMIM:619338
84188	FAR1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
84188	FAR1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
84188	FAR1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
84188	FAR1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
84188	FAR1	HP:0000750	Delayed speech and language development	10/12	OMIM:619338
84188	FAR1	HP:0000750	Delayed speech and language development	-	OMIM:615777
84188	FAR1	HP:0011461	Fetal onset	7/7	OMIM:615777
84188	FAR1	HP:0000774	Narrow chest	2/7	OMIM:615777
84188	FAR1	HP:0003196	Short nose	HP:0040283	ORPHA:438178
84188	FAR1	HP:0000926	Platyspondyly	1/7	OMIM:615777
84188	FAR1	HP:0003180	Flat acetabular roof	-	OMIM:615777
84188	FAR1	HP:0004482	Relative macrocephaly	-	OMIM:615777
84188	FAR1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
84188	FAR1	HP:0000823	Delayed puberty	-	OMIM:131300
84188	FAR1	HP:0000894	Short clavicles	-	OMIM:615777
84188	FAR1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
84188	FAR1	HP:0033051	Impaired executive functioning	1/12	OMIM:619338
84188	FAR1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
84188	FAR1	HP:0000286	Epicanthus	1/7	OMIM:615777
84188	FAR1	HP:0000280	Coarse facial features	1/3	OMIM:616154
84188	FAR1	HP:0000280	Coarse facial features	2/7	OMIM:615777
84188	FAR1	HP:0000256	Macrocephaly	2/12	OMIM:619338
84188	FAR1	HP:0002827	Hip dislocation	3/7	OMIM:615777
84188	FAR1	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:438178
84188	FAR1	HP:0000252	Microcephaly	3/3	OMIM:616154
84188	FAR1	HP:0000252	Microcephaly	-	OMIM:615777
84188	FAR1	HP:0000219	Thin upper lip vermilion	1/3	OMIM:616154
84188	FAR1	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:438178
84188	FAR1	HP:0002857	Genu valgum	-	OMIM:131300
84188	FAR1	HP:0001533	Slender build	-	OMIM:131300
84188	FAR1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
84188	FAR1	HP:0001510	Growth delay	3/3	OMIM:616154
84188	FAR1	HP:0001510	Growth delay	HP:0040282	ORPHA:438178
84188	FAR1	HP:0007807	Optic nerve compression	-	OMIM:131300
84188	FAR1	HP:0012368	Flat face	7/7	OMIM:615777
84188	FAR1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
84188	FAR1	HP:0000365	Hearing impairment	10/67	OMIM:131300
84188	FAR1	HP:0000343	Long philtrum	2/3	OMIM:616154
84188	FAR1	HP:0000343	Long philtrum	1/7	OMIM:615777
84188	FAR1	HP:0000343	Long philtrum	HP:0040283	ORPHA:438178
84188	FAR1	HP:0011001	Increased bone mineral density	-	OMIM:131300
84188	FAR1	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:438178
84188	FAR1	HP:0000316	Hypertelorism	1/3	OMIM:616154
84188	FAR1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:438178
84188	FAR1	HP:0000311	Round face	2/7	OMIM:615777
84188	FAR1	HP:0002970	Genu varum	-	OMIM:615777
84188	FAR1	HP:0000303	Mandibular prognathia	-	OMIM:131300
84188	FAR1	HP:0011172	Complex febrile seizure	1/12	OMIM:619338
84188	FAR1	HP:0011153	Focal motor seizure	2/12	OMIM:619338
84188	FAR1	HP:0000400	Macrotia	1/3	OMIM:616154
84188	FAR1	HP:0000400	Macrotia	HP:0040283	ORPHA:438178
84188	FAR1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
84188	FAR1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:438178
84188	FAR1	HP:0012450	Chronic constipation	5/12	OMIM:619338
84188	FAR1	HP:0000470	Short neck	1/7	OMIM:615777
84188	FAR1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
84188	FAR1	HP:0001763	Pes planus	1/7	OMIM:615777
84188	FAR1	HP:0000518	Cataract	2/3	OMIM:616154
84188	FAR1	HP:0000518	Cataract	12/12	OMIM:619338
84188	FAR1	HP:0001840	Metatarsus adductus	-	OMIM:615777
84188	FAR1	HP:0000520	Proptosis	2/4	OMIM:131300
84188	FAR1	HP:0000520	Proptosis	7/7	OMIM:615777
84188	FAR1	HP:0000508	Ptosis	1/3	OMIM:616154
84188	FAR1	HP:0000508	Ptosis	HP:0040283	ORPHA:438178
84188	FAR1	HP:0000592	Blue sclerae	2/7	OMIM:615777
84188	FAR1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
84188	FAR1	HP:0012514	Lower limb pain	4/4	OMIM:131300
84189	SLITRK6	HP:0001123	Visual field defect	-	OMIM:143200
84189	SLITRK6	HP:0001270	Motor delay	-	OMIM:156550
84189	SLITRK6	HP:0001288	Gait disturbance	-	OMIM:156550
84189	SLITRK6	HP:0006095	Wide tufts of distal phalanges	-	OMIM:154780
84189	SLITRK6	HP:0001376	Limitation of joint mobility	-	OMIM:156550
84189	SLITRK6	HP:0012019	Lens luxation	-	OMIM:154780
84189	SLITRK6	HP:0000023	Inguinal hernia	-	OMIM:156550
84189	SLITRK6	HP:0002684	Thickened calvaria	-	OMIM:154780
84189	SLITRK6	HP:0002688	Absent frontal sinuses	-	OMIM:154780
84189	SLITRK6	HP:0008839	Hypoplastic pelvis	-	OMIM:156550
84189	SLITRK6	HP:0006172	Flattened, squared-off epiphyses of tubular bones	-	OMIM:156550
84189	SLITRK6	HP:0002663	Delayed epiphyseal ossification	-	OMIM:156550
84189	SLITRK6	HP:0002656	Epiphyseal dysplasia	-	OMIM:184840
84189	SLITRK6	HP:0002673	Coxa valga	-	OMIM:154780
84189	SLITRK6	HP:0000007	Autosomal recessive inheritance	-	OMIM:221200
84189	SLITRK6	HP:0000006	Autosomal dominant inheritance	-	OMIM:154780
84189	SLITRK6	HP:0000006	Autosomal dominant inheritance	-	OMIM:156550
84189	SLITRK6	HP:0000006	Autosomal dominant inheritance	-	OMIM:143200
84189	SLITRK6	HP:0000006	Autosomal dominant inheritance	-	OMIM:184840
84189	SLITRK6	HP:0008905	Rhizomelia	1/1	OMIM:156550
84189	SLITRK6	HP:0000179	Thick lower lip vermilion	-	OMIM:154780
84189	SLITRK6	HP:0000193	Bifid uvula	4/9	OMIM:154780
84189	SLITRK6	HP:0000175	Cleft palate	-	OMIM:184840
84189	SLITRK6	HP:0000175	Cleft palate	1/1	OMIM:156550
84189	SLITRK6	HP:0000175	Cleft palate	4/9	OMIM:154780
84189	SLITRK6	HP:0007643	Peripheral tractional retinal detachment	-	OMIM:143200
84189	SLITRK6	HP:0002779	Tracheomalacia	-	OMIM:156550
84189	SLITRK6	HP:0004619	Lumbar kyphoscoliosis	-	OMIM:156550
84189	SLITRK6	HP:0011800	Midface retrusion	-	OMIM:184840
84189	SLITRK6	HP:0011800	Midface retrusion	-	OMIM:156550
84189	SLITRK6	HP:0011800	Midface retrusion	9/9	OMIM:154780
84189	SLITRK6	HP:0002098	Respiratory distress	-	OMIM:156550
84189	SLITRK6	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:156550
84189	SLITRK6	HP:0008271	Abnormal cartilage collagen	-	OMIM:156550
84189	SLITRK6	HP:0010580	Enlarged epiphyses	-	OMIM:184840
84189	SLITRK6	HP:0003593	Infantile onset	6/7	OMIM:221200
84189	SLITRK6	HP:0003577	Congenital onset	1/1	OMIM:156550
84189	SLITRK6	HP:0003577	Congenital onset	1/7	OMIM:221200
84189	SLITRK6	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:156550
84189	SLITRK6	HP:0200003	Splayed epiphyses	-	OMIM:156550
84189	SLITRK6	HP:0004209	Clinodactyly of the 5th finger	2/9	OMIM:154780
84189	SLITRK6	HP:0000648	Optic atrophy	-	OMIM:143200
84189	SLITRK6	HP:0030490	Exudative vitreoretinopathy	HP:0040283	OMIM:143200
84189	SLITRK6	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:154780
84189	SLITRK6	HP:0004322	Short stature	-	OMIM:154780
84189	SLITRK6	HP:0030663	Optically empty vitreous	-	OMIM:143200
84189	SLITRK6	HP:0003088	Premature osteoarthritis	-	OMIM:184840
84189	SLITRK6	HP:0003037	Enlarged joints	-	OMIM:156550
84189	SLITRK6	HP:0003031	Ulnar bowing	-	OMIM:154780
84189	SLITRK6	HP:0003015	Flared metaphysis	-	OMIM:156550
84189	SLITRK6	HP:0000767	Pectus excavatum	1/1	OMIM:156550
84189	SLITRK6	HP:0003196	Short nose	9/9	OMIM:154780
84189	SLITRK6	HP:0000926	Platyspondyly	1/9	OMIM:154780
84189	SLITRK6	HP:0000926	Platyspondyly	-	OMIM:184840
84189	SLITRK6	HP:0000926	Platyspondyly	1/1	OMIM:156550
84189	SLITRK6	HP:0040025	Clinodactyly of the 4th finger	2/9	OMIM:154780
84189	SLITRK6	HP:0003273	Hip contracture	-	OMIM:156550
84189	SLITRK6	HP:0100250	Meningeal calcification	-	OMIM:154780
84189	SLITRK6	HP:0000947	Dumbbell-shaped long bone	-	OMIM:156550
84189	SLITRK6	HP:0000946	Hypoplastic ilia	-	OMIM:154780
84189	SLITRK6	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:143200
84189	SLITRK6	HP:0012283	Small distal femoral epiphysis	-	OMIM:154780
84189	SLITRK6	HP:0012284	Small proximal tibial epiphyses	-	OMIM:154780
84189	SLITRK6	HP:0000286	Epicanthus	-	OMIM:154780
84189	SLITRK6	HP:0000272	Malar flattening	-	OMIM:154780
84189	SLITRK6	HP:0000272	Malar flattening	27/28	OMIM:184840
84189	SLITRK6	HP:0000272	Malar flattening	1/1	OMIM:156550
84189	SLITRK6	HP:0006456	Irregular proximal tibial epiphyses	-	OMIM:154780
84189	SLITRK6	HP:0007773	Vitreoretinopathy	-	OMIM:154780
84189	SLITRK6	HP:0007773	Vitreoretinopathy	-	OMIM:143200
84189	SLITRK6	HP:0006407	Irregular distal femoral epiphysis	-	OMIM:154780
84189	SLITRK6	HP:0002812	Coxa vara	-	OMIM:156550
84189	SLITRK6	HP:0002829	Arthralgia	20/20	OMIM:184840
84189	SLITRK6	HP:0002827	Hip dislocation	-	OMIM:156550
84189	SLITRK6	HP:0005086	Knee osteoarthritis	-	OMIM:154780
84189	SLITRK6	HP:0006375	Dumbbell-shaped femur	1/1	OMIM:156550
84189	SLITRK6	HP:0006361	Irregular femoral epiphysis	-	OMIM:154780
84189	SLITRK6	HP:0000215	Thick upper lip vermilion	-	OMIM:154780
84189	SLITRK6	HP:0001537	Umbilical hernia	-	OMIM:156550
84189	SLITRK6	HP:0000201	Pierre-Robin sequence	4/9	OMIM:154780
84189	SLITRK6	HP:0000201	Pierre-Robin sequence	-	OMIM:184840
84189	SLITRK6	HP:0011003	High myopia	7/7	OMIM:221200
84189	SLITRK6	HP:0000369	Low-set ears	-	OMIM:154780
84189	SLITRK6	HP:0000343	Long philtrum	-	OMIM:154780
84189	SLITRK6	HP:0000347	Micrognathia	-	OMIM:154780
84189	SLITRK6	HP:0002982	Tibial bowing	1/1	OMIM:156550
84189	SLITRK6	HP:0000316	Hypertelorism	-	OMIM:154780
84189	SLITRK6	HP:0000311	Round face	-	OMIM:156550
84189	SLITRK6	HP:0002986	Radial bowing	-	OMIM:154780
84189	SLITRK6	HP:0002970	Genu varum	1/1	OMIM:156550
84189	SLITRK6	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:154780
84189	SLITRK6	HP:0000407	Sensorineural hearing impairment	16/28	OMIM:184840
84189	SLITRK6	HP:0000407	Sensorineural hearing impairment	7/7	OMIM:221200
84189	SLITRK6	HP:0000403	Recurrent otitis media	4/9	OMIM:154780
84189	SLITRK6	HP:0000403	Recurrent otitis media	-	OMIM:156550
84189	SLITRK6	HP:0000405	Conductive hearing impairment	-	OMIM:156550
84189	SLITRK6	HP:0005280	Depressed nasal bridge	27/28	OMIM:184840
84189	SLITRK6	HP:0005280	Depressed nasal bridge	-	OMIM:156550
84189	SLITRK6	HP:0005280	Depressed nasal bridge	9/9	OMIM:154780
84189	SLITRK6	HP:0000478	Abnormality of the eye	0/3	OMIM:184840
84189	SLITRK6	HP:0000463	Anteverted nares	27/28	OMIM:184840
84189	SLITRK6	HP:0000463	Anteverted nares	-	OMIM:154780
84189	SLITRK6	HP:0000470	Short neck	-	OMIM:156550
84189	SLITRK6	HP:0025707	Hypoplastic fetal nasal bone	-	OMIM:154780
84189	SLITRK6	HP:0005462	Calcification of falx cerebri	-	OMIM:154780
84189	SLITRK6	HP:0000518	Cataract	-	OMIM:156550
84189	SLITRK6	HP:0000518	Cataract	-	OMIM:143200
84189	SLITRK6	HP:0000518	Cataract	9/9	OMIM:154780
84189	SLITRK6	HP:0000520	Proptosis	-	OMIM:156550
84189	SLITRK6	HP:0000501	Glaucoma	-	OMIM:154780
84189	SLITRK6	HP:0000501	Glaucoma	-	OMIM:143200
84189	SLITRK6	HP:0000572	Visual loss	-	OMIM:143200
84189	SLITRK6	HP:0000565	Esotropia	-	OMIM:154780
84189	SLITRK6	HP:0000541	Retinal detachment	-	OMIM:154780
84189	SLITRK6	HP:0000541	Retinal detachment	-	OMIM:156550
84189	SLITRK6	HP:0000533	Chorioretinal atrophy	-	OMIM:143200
84189	SLITRK6	HP:0000545	Myopia	1/1	OMIM:156550
84189	SLITRK6	HP:0000545	Myopia	-	OMIM:143200
84189	SLITRK6	HP:0000545	Myopia	9/9	OMIM:154780
84196	USP48	HP:0001123	Visual field defect	HP:0040284	ORPHA:96253
84196	USP48	HP:0010885	Avascular necrosis	HP:0040284	ORPHA:96253
84196	USP48	HP:0033505	Livedo reticularis	HP:0040283	ORPHA:96253
84196	USP48	HP:0001297	Stroke	HP:0040283	ORPHA:96253
84196	USP48	HP:0025269	Panic attack	HP:0040284	ORPHA:96253
84196	USP48	HP:0003829	Typified by incomplete penetrance	-	OMIM:620227
84196	USP48	HP:0025383	Dorsocervical fat pad	HP:0040282	ORPHA:96253
84196	USP48	HP:0012030	Increased urinary cortisol level	HP:0040281	ORPHA:96253
84196	USP48	HP:0002690	Large sella turcica	HP:0040283	ORPHA:96253
84196	USP48	HP:0001324	Muscle weakness	HP:0040282	ORPHA:96253
84196	USP48	HP:0000006	Autosomal dominant inheritance	-	OMIM:620227
84196	USP48	HP:0000141	Amenorrhea	HP:0040282	ORPHA:96253
84196	USP48	HP:0031284	Flushing	HP:0040283	ORPHA:96253
84196	USP48	HP:0500011	Moon facies	HP:0040282	ORPHA:96253
84196	USP48	HP:0002721	Immunodeficiency	HP:0040282	ORPHA:96253
84196	USP48	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:96253
84196	USP48	HP:0040270	Impaired glucose tolerance	HP:0040282	ORPHA:96253
84196	USP48	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	HP:0040281	ORPHA:96253
84196	USP48	HP:0008221	Adrenal hyperplasia	HP:0040282	ORPHA:96253
84196	USP48	HP:0034585	Cochlear nerve hypoplasia	1/9	OMIM:620227
84196	USP48	HP:0008291	Pituitary corticotropic cell adenoma	HP:0040281	ORPHA:96253
84196	USP48	HP:0003596	Middle age onset	4/8	OMIM:620227
84196	USP48	HP:0003577	Congenital onset	1/8	OMIM:620227
84196	USP48	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:96253
84196	USP48	HP:0011999	Paranoia	HP:0040284	ORPHA:96253
84196	USP48	HP:0001058	Poor wound healing	HP:0040282	ORPHA:96253
84196	USP48	HP:0001050	Plethora	HP:0040282	ORPHA:96253
84196	USP48	HP:0025017	Capillary fragility	HP:0040282	ORPHA:96253
84196	USP48	HP:0001065	Striae distensae	HP:0040282	ORPHA:96253
84196	USP48	HP:0001061	Acne	HP:0040282	ORPHA:96253
84196	USP48	HP:0001007	Hirsutism	HP:0040282	ORPHA:96253
84196	USP48	HP:0002354	Memory impairment	HP:0040283	ORPHA:96253
84196	USP48	HP:0002315	Headache	HP:0040283	ORPHA:96253
84196	USP48	HP:0200042	Skin ulcer	HP:0040283	ORPHA:96253
84196	USP48	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:96253
84196	USP48	HP:0010741	Pedal edema	HP:0040284	ORPHA:96253
84196	USP48	HP:0003621	Juvenile onset	1/8	OMIM:620227
84196	USP48	HP:0031845	Abnormal libido	HP:0040283	ORPHA:96253
84196	USP48	HP:0031891	Decreased total eosinophil count	HP:0040282	ORPHA:96253
84196	USP48	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:96253
84196	USP48	HP:0001956	Truncal obesity	HP:0040282	ORPHA:96253
84196	USP48	HP:0011370	Recurrent cutaneous fungal infections	HP:0040283	ORPHA:96253
84196	USP48	HP:0004324	Increased body weight	HP:0040282	ORPHA:96253
84196	USP48	HP:0012743	Abdominal obesity	HP:0040282	ORPHA:96253
84196	USP48	HP:0000716	Depression	HP:0040283	ORPHA:96253
84196	USP48	HP:0000712	Emotional lability	HP:0040282	ORPHA:96253
84196	USP48	HP:0000726	Dementia	HP:0040284	ORPHA:96253
84196	USP48	HP:0000725	Psychotic episodes	HP:0040283	ORPHA:96253
84196	USP48	HP:0000709	Psychosis	HP:0040284	ORPHA:96253
84196	USP48	HP:0000708	Atypical behavior	HP:0040282	ORPHA:96253
84196	USP48	HP:0011463	Childhood onset	1/8	OMIM:620227
84196	USP48	HP:0011462	Young adult onset	1/8	OMIM:620227
84196	USP48	HP:0003118	Increased circulating cortisol level	HP:0040281	ORPHA:96253
84196	USP48	HP:0003154	Increased circulating ACTH level	HP:0040282	ORPHA:96253
84196	USP48	HP:0000876	Oligomenorrhea	HP:0040283	ORPHA:96253
84196	USP48	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:96253
84196	USP48	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:96253
84196	USP48	HP:0000822	Hypertension	HP:0040282	ORPHA:96253
84196	USP48	HP:0010284	Intra-oral hyperpigmentation	HP:0040282	ORPHA:96253
84196	USP48	HP:0000979	Purpura	HP:0040283	ORPHA:96253
84196	USP48	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:96253
84196	USP48	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:96253
84196	USP48	HP:0000963	Thin skin	HP:0040282	ORPHA:96253
84196	USP48	HP:0000939	Osteoporosis	HP:0040282	ORPHA:96253
84196	USP48	HP:0031364	Ecchymosis	HP:0040283	ORPHA:96253
84196	USP48	HP:0007807	Optic nerve compression	HP:0040284	ORPHA:96253
84196	USP48	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040282	ORPHA:96253
84196	USP48	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:96253
84196	USP48	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:96253
84196	USP48	HP:0002953	Vertebral compression fracture	HP:0040283	ORPHA:96253
84196	USP48	HP:0000407	Sensorineural hearing impairment	8/9	OMIM:620227
84196	USP48	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:96253
84196	USP48	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:96253
84197	POMK	HP:0002465	Poor speech	-	OMIM:615249
84197	POMK	HP:0007260	Type II lissencephaly	HP:0040282	ORPHA:370959
84197	POMK	HP:0007260	Type II lissencephaly	1/1	OMIM:615249
84197	POMK	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:370959
84197	POMK	HP:0002421	Poor head control	-	OMIM:615249
84197	POMK	HP:0003707	Calf muscle pseudohypertrophy	HP:0040282	ORPHA:370959
84197	POMK	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:370959
84197	POMK	HP:0003712	Skeletal muscle hypertrophy	HP:0040282	ORPHA:370959
84197	POMK	HP:0001274	Agenesis of corpus callosum	HP:0040283	OMIM:615249
84197	POMK	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:899
84197	POMK	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:370959
84197	POMK	HP:0001270	Motor delay	2/2	OMIM:616094
84197	POMK	HP:0001284	Areflexia	HP:0040281	ORPHA:899
84197	POMK	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:370959
84197	POMK	HP:0001250	Seizure	HP:0040283	OMIM:615249
84197	POMK	HP:0001250	Seizure	HP:0040283	ORPHA:370959
84197	POMK	HP:0001250	Seizure	HP:0040283	ORPHA:899
84197	POMK	HP:0001252	Hypotonia	HP:0040281	ORPHA:899
84197	POMK	HP:0001249	Intellectual disability	HP:0040281	ORPHA:899
84197	POMK	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:899
84197	POMK	HP:0001265	Hyporeflexia	2/2	OMIM:616094
84197	POMK	HP:0001263	Global developmental delay	-	OMIM:615249
84197	POMK	HP:0001263	Global developmental delay	HP:0040282	ORPHA:370959
84197	POMK	HP:0001263	Global developmental delay	HP:0040281	ORPHA:899
84197	POMK	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:899
84197	POMK	HP:0002536	Abnormal cortical gyration	HP:0040281	ORPHA:899
84197	POMK	HP:0001371	Flexion contracture	-	OMIM:615249
84197	POMK	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:370959
84197	POMK	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:899
84197	POMK	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:899
84197	POMK	HP:0001328	Specific learning disability	HP:0040281	ORPHA:899
84197	POMK	HP:0001324	Muscle weakness	HP:0040281	ORPHA:899
84197	POMK	HP:0001339	Lissencephaly	HP:0040283	OMIM:615249
84197	POMK	HP:0001339	Lissencephaly	HP:0040281	ORPHA:899
84197	POMK	HP:0000007	Autosomal recessive inheritance	-	OMIM:615249
84197	POMK	HP:0000007	Autosomal recessive inheritance	-	OMIM:616094
84197	POMK	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:899
84197	POMK	HP:0001302	Pachygyria	HP:0040281	ORPHA:899
84197	POMK	HP:0002650	Scoliosis	-	OMIM:615249
84197	POMK	HP:0001321	Cerebellar hypoplasia	HP:0040283	OMIM:615249
84197	POMK	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:899
84197	POMK	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:370959
84197	POMK	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:370959
84197	POMK	HP:0001319	Neonatal hypotonia	-	OMIM:615249
84197	POMK	HP:0001319	Neonatal hypotonia	2/2	OMIM:616094
84197	POMK	HP:0000193	Bifid uvula	HP:0040283	ORPHA:899
84197	POMK	HP:0000158	Macroglossia	HP:0040282	ORPHA:370959
84197	POMK	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:899
84197	POMK	HP:0000175	Cleft palate	HP:0040283	ORPHA:899
84197	POMK	HP:0007663	Reduced visual acuity	-	OMIM:615249
84197	POMK	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:370959
84197	POMK	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	HP:0040281	ORPHA:899
84197	POMK	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:615249
84197	POMK	HP:0003325	Limb-girdle muscle weakness	2/2	OMIM:616094
84197	POMK	HP:0002085	Occipital encephalocele	HP:0040283	ORPHA:370959
84197	POMK	HP:0003391	Gowers sign	1/2	OMIM:616094
84197	POMK	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:899
84197	POMK	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:370959
84197	POMK	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:899
84197	POMK	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:370959
84197	POMK	HP:0002198	Dilated fourth ventricle	HP:0040282	ORPHA:370959
84197	POMK	HP:0002169	Clonus	HP:0040283	ORPHA:370959
84197	POMK	HP:0010508	Metatarsus valgus	HP:0040281	ORPHA:899
84197	POMK	HP:0003593	Infantile onset	2/2	OMIM:616094
84197	POMK	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:899
84197	POMK	HP:0003577	Congenital onset	-	OMIM:615249
84197	POMK	HP:0003551	Difficulty climbing stairs	2/2	OMIM:616094
84197	POMK	HP:0003560	Muscular dystrophy	1/1	OMIM:615249
84197	POMK	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:899
84197	POMK	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:370959
84197	POMK	HP:0003560	Muscular dystrophy	-	OMIM:616094
84197	POMK	HP:0002282	Gray matter heterotopia	HP:0040282	ORPHA:370959
84197	POMK	HP:0002280	Enlarged cisterna magna	1/2	OMIM:616094
84197	POMK	HP:0011968	Feeding difficulties	-	OMIM:615249
84197	POMK	HP:0002365	Hypoplasia of the brainstem	HP:0040283	OMIM:615249
84197	POMK	HP:0002365	Hypoplasia of the brainstem	HP:0040282	ORPHA:370959
84197	POMK	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:370959
84197	POMK	HP:0002350	Cerebellar cyst	HP:0040283	ORPHA:370959
84197	POMK	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040281	ORPHA:899
84197	POMK	HP:0007204	Diffuse white matter abnormalities	HP:0040282	ORPHA:370959
84197	POMK	HP:0001090	Abnormally large globe	-	OMIM:615249
84197	POMK	HP:0031882	Agyria	HP:0040284	OMIM:615249
84197	POMK	HP:0006889	Intellectual disability, borderline	2/2	OMIM:616094
84197	POMK	HP:0006899	Fusion of the cerebellar hemispheres	HP:0040283	ORPHA:370959
84197	POMK	HP:0000648	Optic atrophy	HP:0040281	ORPHA:899
84197	POMK	HP:0000648	Optic atrophy	HP:0040283	ORPHA:370959
84197	POMK	HP:0000618	Blindness	HP:0040284	ORPHA:370959
84197	POMK	HP:0000612	Iris coloboma	HP:0040283	ORPHA:899
84197	POMK	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:370959
84197	POMK	HP:0012695	Decreased thalamic volume	HP:0040283	ORPHA:370959
84197	POMK	HP:0011344	Severe global developmental delay	1/1	OMIM:615249
84197	POMK	HP:0006955	Olivopontocerebellar hypoplasia	HP:0040283	ORPHA:370959
84197	POMK	HP:0034197	Third trimester onset	1/1	OMIM:615249
84197	POMK	HP:0031936	Delayed ability to walk	2/2	OMIM:616094
84197	POMK	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040281	ORPHA:899
84197	POMK	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:615249
84197	POMK	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:370959
84197	POMK	HP:0003236	Elevated circulating creatine kinase concentration	3/3	OMIM:616094
84197	POMK	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:899
84197	POMK	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040281	ORPHA:899
84197	POMK	HP:0000256	Macrocephaly	HP:0040282	ORPHA:899
84197	POMK	HP:0007731	Chorioretinal dysplasia	HP:0040281	ORPHA:899
84197	POMK	HP:0030099	Reduced muscle fiber alpha dystroglycan	HP:0040281	ORPHA:370959
84197	POMK	HP:0000238	Hydrocephalus	1/1	OMIM:615249
84197	POMK	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:899
84197	POMK	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:370959
84197	POMK	HP:0000253	Progressive microcephaly	-	OMIM:615249
84197	POMK	HP:0000252	Microcephaly	-	OMIM:615249
84197	POMK	HP:0000252	Microcephaly	HP:0040282	ORPHA:370959
84197	POMK	HP:0000252	Microcephaly	HP:0040283	ORPHA:899
84197	POMK	HP:0030046	Hypoglycosylation of alpha-dystroglycan	HP:0040281	ORPHA:370959
84197	POMK	HP:0002938	Lumbar hyperlordosis	HP:0040282	ORPHA:370959
84197	POMK	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:899
84197	POMK	HP:0000369	Low-set ears	HP:0040283	ORPHA:899
84197	POMK	HP:0032792	Tonic seizure	1/1	OMIM:615249
84197	POMK	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:370959
84197	POMK	HP:0007957	Corneal opacity	HP:0040282	ORPHA:899
84197	POMK	HP:0007973	Retinal dysplasia	HP:0040281	ORPHA:899
84197	POMK	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:615249
84197	POMK	HP:0000486	Strabismus	HP:0040283	ORPHA:370959
84197	POMK	HP:0000485	Megalocornea	HP:0040283	ORPHA:370959
84197	POMK	HP:0000482	Microcornea	HP:0040283	ORPHA:899
84197	POMK	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:370959
84197	POMK	HP:0012400	Abnormal circulating aldolase concentration	HP:0040281	ORPHA:899
84197	POMK	HP:0000411	Protruding ear	HP:0040283	ORPHA:899
84197	POMK	HP:0000518	Cataract	-	OMIM:615249
84197	POMK	HP:0000518	Cataract	HP:0040283	ORPHA:899
84197	POMK	HP:0000518	Cataract	HP:0040283	ORPHA:370959
84197	POMK	HP:0000528	Anophthalmia	HP:0040282	ORPHA:899
84197	POMK	HP:0000525	Abnormality iris morphology	HP:0040283	ORPHA:370959
84197	POMK	HP:0000505	Visual impairment	-	OMIM:615249
84197	POMK	HP:0000501	Glaucoma	HP:0040282	ORPHA:899
84197	POMK	HP:0000587	Abnormal optic nerve morphology	HP:0040281	ORPHA:899
84197	POMK	HP:0000589	Coloboma	HP:0040283	ORPHA:370959
84197	POMK	HP:0000589	Coloboma	-	OMIM:615249
84197	POMK	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:899
84197	POMK	HP:0000568	Microphthalmia	-	OMIM:615249
84197	POMK	HP:0000568	Microphthalmia	HP:0040282	ORPHA:899
84197	POMK	HP:0000568	Microphthalmia	HP:0040284	ORPHA:370959
84197	POMK	HP:0000541	Retinal detachment	HP:0040281	ORPHA:899
84197	POMK	HP:0000541	Retinal detachment	HP:0040284	ORPHA:370959
84197	POMK	HP:0000546	Retinal degeneration	1/1	OMIM:615249
84197	POMK	HP:0000545	Myopia	HP:0040283	ORPHA:370959
84225	ZMYND15	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
84225	ZMYND15	HP:0031040	Round spermatid arrest	3/3	OMIM:615842
84225	ZMYND15	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
84225	ZMYND15	HP:0000027	Azoospermia	3/3	OMIM:615842
84225	ZMYND15	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
84225	ZMYND15	HP:0000007	Autosomal recessive inheritance	-	OMIM:615842
84225	ZMYND15	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
84225	ZMYND15	HP:0008232	Elevated circulating follicle stimulating hormone level	3/3	OMIM:615842
84225	ZMYND15	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
84225	ZMYND15	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
84225	ZMYND15	HP:0011462	Young adult onset	3/3	OMIM:615842
84225	ZMYND15	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
84225	ZMYND15	HP:0040086	Abnormal prolactin level	0/3	OMIM:615842
84225	ZMYND15	HP:0003251	Male infertility	3/3	OMIM:615842
84225	ZMYND15	HP:0030087	Abnormal circulating testosterone concentration	0/3	OMIM:615842
84225	ZMYND15	HP:0030345	Abnormal circulating luteinizing hormone concentration	0/3	OMIM:615842
84231	TRAF7	HP:0001159	Syndactyly	5/42	OMIM:618164
84231	TRAF7	HP:0001195	Single umbilical artery	2/7	OMIM:618164
84231	TRAF7	HP:0001276	Hypertonia	2/7	OMIM:618164
84231	TRAF7	HP:0001270	Motor delay	34/47	OMIM:618164
84231	TRAF7	HP:0001269	Hemiparesis	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0001288	Gait disturbance	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0001279	Syncope	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0001250	Seizure	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0001250	Seizure	9/49	OMIM:618164
84231	TRAF7	HP:0001252	Hypotonia	19/49	OMIM:618164
84231	TRAF7	HP:0001251	Ataxia	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0001249	Intellectual disability	23/42	OMIM:618164
84231	TRAF7	HP:0001263	Global developmental delay	5/5	OMIM:618164
84231	TRAF7	HP:0001262	Excessive daytime somnolence	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0010997	Chromosomal breakage induced by ionizing radiation	HP:0040281	ORPHA:2495
84231	TRAF7	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0002512	Brain stem compression	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0001382	Joint hypermobility	4/42	OMIM:618164
84231	TRAF7	HP:0000023	Inguinal hernia	7/42	OMIM:618164
84231	TRAF7	HP:0000020	Urinary incontinence	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0001363	Craniosynostosis	3/42	OMIM:618164
84231	TRAF7	HP:0001342	Cerebral hemorrhage	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0000006	Autosomal dominant inheritance	-	OMIM:618164
84231	TRAF7	HP:0002650	Scoliosis	7/42	OMIM:618164
84231	TRAF7	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0002643	Neonatal respiratory distress	4/7	OMIM:618164
84231	TRAF7	HP:0000141	Amenorrhea	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0002750	Delayed skeletal maturation	4/42	OMIM:618164
84231	TRAF7	HP:0002719	Recurrent infections	4/42	OMIM:618164
84231	TRAF7	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0002036	Hiatus hernia	1/42	OMIM:618164
84231	TRAF7	HP:0005989	Redundant neck skin	1/7	OMIM:618164
84231	TRAF7	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0002059	Cerebral atrophy	1/7	OMIM:618164
84231	TRAF7	HP:0009465	Ulnar deviation of finger	4/42	OMIM:618164
84231	TRAF7	HP:0009466	Radial deviation of finger	6/42	OMIM:618164
84231	TRAF7	HP:0011752	Neoplasm of the posterior pituitary	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0011750	Neoplasm of the anterior pituitary	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0011730	Abnormal central sensory function	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0008163	Decreased circulating cortisol level	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0002144	Tethered cord	3/7	OMIM:618164
84231	TRAF7	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0002119	Ventriculomegaly	2/7	OMIM:618164
84231	TRAF7	HP:0003418	Back pain	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0002167	Abnormal speech pattern	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0008240	Secondary growth hormone deficiency	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0008237	Hypothalamic hypothyroidism	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0010534	Transient global amnesia	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0008214	Decreased serum estradiol	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0008202	Reduced circulating prolactin concentration	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0003593	Infantile onset	1/7	OMIM:618164
84231	TRAF7	HP:0003577	Congenital onset	5/7	OMIM:618164
84231	TRAF7	HP:0100704	Cerebral visual impairment	1/7	OMIM:618164
84231	TRAF7	HP:0011968	Feeding difficulties	27/49	OMIM:618164
84231	TRAF7	HP:0010628	Facial palsy	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0001067	Neurofibroma	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0002354	Memory impairment	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0002315	Headache	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0100648	Neoplasm of the tongue	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0100661	Trigeminal neuralgia	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0010828	Hemifacial spasm	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0010813	Abnormal number of hair whorls	3/7	OMIM:618164
84231	TRAF7	HP:0001085	Papilledema	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0032152	Keratosis pilaris	3/42	OMIM:618164
84231	TRAF7	HP:0010741	Pedal edema	3/42	OMIM:618164
84231	TRAF7	HP:0003623	Neonatal onset	1/7	OMIM:618164
84231	TRAF7	HP:0004935	Pulmonary artery atresia	1/7	OMIM:618164
84231	TRAF7	HP:0030521	Bitemporal hemianopia	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0030532	Visual acuity test abnormality	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0000648	Optic atrophy	2/7	OMIM:618164
84231	TRAF7	HP:0000618	Blindness	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0012691	Focal T2 hypointense thalamic lesion	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0012658	Abnormal brain FDG positron emission tomography	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0004325	Decreased body weight	5/42	OMIM:618164
84231	TRAF7	HP:0004322	Short stature	12/42	OMIM:618164
84231	TRAF7	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0000802	Impotence	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0004383	Hypoplastic left heart	1/7	OMIM:618164
84231	TRAF7	HP:0100010	Spinal meningioma	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0100009	Intracranial meningioma	HP:0040281	ORPHA:2495
84231	TRAF7	HP:0000768	Pectus carinatum	17/42	OMIM:618164
84231	TRAF7	HP:0000750	Delayed speech and language development	33/47	OMIM:618164
84231	TRAF7	HP:0000712	Emotional lability	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0000729	Autistic behavior	6/42	OMIM:618164
84231	TRAF7	HP:0030591	Abnormal kinetic perimetry test	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0011442	Abnormal central motor function	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0030766	Ear pain	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0004408	Abnormality of the sense of smell	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0003186	Inverted nipples	6/42	OMIM:618164
84231	TRAF7	HP:0000870	Increased circulating prolactin concentration	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0011560	Mitral atresia	1/7	OMIM:618164
84231	TRAF7	HP:0030878	Abnormality on pulmonary function testing	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0045026	Abnormal mediastinum morphology	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0034392	Joint contracture	8/42	OMIM:618164
84231	TRAF7	HP:0034349	Supravalvar pulmonary stenosis	1/7	OMIM:618164
84231	TRAF7	HP:0040171	Decreased serum testosterone concentration	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0008069	Neoplasm of the skin	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0007715	Weak extraocular muscles	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0012285	Abnormal hypothalamus physiology	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0000286	Epicanthus	25/49	OMIM:618164
84231	TRAF7	HP:0012246	Oculomotor nerve palsy	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0000256	Macrocephaly	5/42	OMIM:618164
84231	TRAF7	HP:0030084	Clinodactyly	3/7	OMIM:618164
84231	TRAF7	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0000252	Microcephaly	5/42	OMIM:618164
84231	TRAF7	HP:0001537	Umbilical hernia	6/49	OMIM:618164
84231	TRAF7	HP:0001511	Intrauterine growth retardation	1/7	OMIM:618164
84231	TRAF7	HP:0001513	Obesity	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0006520	Progressive pulmonary function impairment	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0000365	Hearing impairment	26/49	OMIM:618164
84231	TRAF7	HP:0000360	Tinnitus	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0000369	Low-set ears	2/7	OMIM:618164
84231	TRAF7	HP:0001680	Coarctation of aorta	1/7	OMIM:618164
84231	TRAF7	HP:0001650	Aortic valve stenosis	1/7	OMIM:618164
84231	TRAF7	HP:0001647	Bicuspid aortic valve	6/42	OMIM:618164
84231	TRAF7	HP:0000316	Hypertelorism	17/42	OMIM:618164
84231	TRAF7	HP:0001643	Patent ductus arteriosus	28/49	OMIM:618164
84231	TRAF7	HP:0001629	Ventricular septal defect	6/42	OMIM:618164
84231	TRAF7	HP:0001622	Premature birth	10/42	OMIM:618164
84231	TRAF7	HP:0001631	Atrial septal defect	9/42	OMIM:618164
84231	TRAF7	HP:0006610	Wide intermamillary distance	5/7	OMIM:618164
84231	TRAF7	HP:0007924	Slow decrease in visual acuity	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0001719	Double outlet right ventricle	2/7	OMIM:618164
84231	TRAF7	HP:0000486	Strabismus	10/42	OMIM:618164
84231	TRAF7	HP:0000476	Cystic hygroma	2/7	OMIM:618164
84231	TRAF7	HP:0011133	Increased sensitivity to ionizing radiation	HP:0040281	ORPHA:2495
84231	TRAF7	HP:0000463	Anteverted nares	7/42	OMIM:618164
84231	TRAF7	HP:0000474	Thickened nuchal skin fold	5/7	OMIM:618164
84231	TRAF7	HP:0000470	Short neck	24/42	OMIM:618164
84231	TRAF7	HP:0001763	Pes planus	10/42	OMIM:618164
84231	TRAF7	HP:0000414	Bulbous nose	17/42	OMIM:618164
84231	TRAF7	HP:0012505	Enlarged pituitary gland	HP:0040283	ORPHA:2495
84231	TRAF7	HP:0001845	Overlapping toe	10/42	OMIM:618164
84231	TRAF7	HP:0001847	Long hallux	4/42	OMIM:618164
84231	TRAF7	HP:0001852	Sandal gap	5/42	OMIM:618164
84231	TRAF7	HP:0000520	Proptosis	HP:0040284	ORPHA:2495
84231	TRAF7	HP:0000506	Telecanthus	14/42	OMIM:618164
84231	TRAF7	HP:0000508	Ptosis	23/49	OMIM:618164
84231	TRAF7	HP:0030344	Decreased circulating luteinizing hormone level	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0030341	Decreased circulating follicle stimulating hormone concentration	HP:0040282	ORPHA:2495
84231	TRAF7	HP:0000581	Blepharophimosis	33/42	OMIM:618164
84233	TMEM126A	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
84233	TMEM126A	HP:0001133	Constriction of peripheral visual field	-	OMIM:612989
84233	TMEM126A	HP:0003828	Variable expressivity	-	OMIM:612989
84233	TMEM126A	HP:0000007	Autosomal recessive inheritance	-	OMIM:612989
84233	TMEM126A	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
84233	TMEM126A	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
84233	TMEM126A	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
84233	TMEM126A	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
84233	TMEM126A	HP:0007663	Reduced visual acuity	-	OMIM:612989
84233	TMEM126A	HP:0007641	Dyschromatopsia	-	OMIM:612989
84233	TMEM126A	HP:0003621	Juvenile onset	8/19	OMIM:180100
84233	TMEM126A	HP:0000648	Optic atrophy	-	OMIM:612989
84233	TMEM126A	HP:0000603	Central scotoma	-	OMIM:612989
84233	TMEM126A	HP:0000662	Nyctalopia	26/28	OMIM:180100
84233	TMEM126A	HP:0000666	Horizontal nystagmus	HP:0040283	OMIM:612989
84233	TMEM126A	HP:0011463	Childhood onset	3/19	OMIM:180100
84233	TMEM126A	HP:0011462	Young adult onset	8/19	OMIM:180100
84233	TMEM126A	HP:0000980	Pallor	-	OMIM:612989
84233	TMEM126A	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
84233	TMEM126A	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
84233	TMEM126A	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	OMIM:612989
84233	TMEM126A	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:612989
84233	TMEM126A	HP:0000486	Strabismus	HP:0040283	OMIM:612989
84233	TMEM126A	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
84233	TMEM126A	HP:0000505	Visual impairment	-	OMIM:612989
84233	TMEM126A	HP:0000575	Scotoma	5/18	OMIM:180100
84233	TMEM126A	HP:0000543	Optic disc pallor	1/1	OMIM:180100
84233	TMEM126A	HP:0000543	Optic disc pallor	-	OMIM:612989
84233	TMEM126A	HP:0000545	Myopia	-	OMIM:180100
84265	POLR3GL	HP:0003701	Proximal muscle weakness	2/3	OMIM:619234
84265	POLR3GL	HP:0001270	Motor delay	3/3	OMIM:619234
84265	POLR3GL	HP:0001252	Hypotonia	2/3	OMIM:619234
84265	POLR3GL	HP:0001260	Dysarthria	1/3	OMIM:619234
84265	POLR3GL	HP:0001382	Joint hypermobility	1/3	OMIM:619234
84265	POLR3GL	HP:0000010	Recurrent urinary tract infections	1/3	OMIM:619234
84265	POLR3GL	HP:0000007	Autosomal recessive inheritance	-	OMIM:619234
84265	POLR3GL	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:619234
84265	POLR3GL	HP:0003418	Back pain	1/3	OMIM:619234
84265	POLR3GL	HP:0100704	Cerebral visual impairment	1/3	OMIM:619234
84265	POLR3GL	HP:0002313	Spastic paraparesis	1/3	OMIM:619234
84265	POLR3GL	HP:0008454	Lumbar kyphosis	2/3	OMIM:619234
84265	POLR3GL	HP:0000646	Amblyopia	1/3	OMIM:619234
84265	POLR3GL	HP:0000677	Oligodontia	3/3	OMIM:619234
84265	POLR3GL	HP:0004322	Short stature	1/3	OMIM:619234
84265	POLR3GL	HP:0005617	Bilateral camptodactyly	1/3	OMIM:619234
84265	POLR3GL	HP:0000821	Hypothyroidism	2/3	OMIM:619234
84265	POLR3GL	HP:0000824	Decreased response to growth hormone stimulation test	2/3	OMIM:619234
84265	POLR3GL	HP:0000823	Delayed puberty	2/3	OMIM:619234
84265	POLR3GL	HP:0033044	Motor regression	2/3	OMIM:619234
84265	POLR3GL	HP:0007787	Posterior subcapsular cataract	1/3	OMIM:619234
84265	POLR3GL	HP:0000252	Microcephaly	1/3	OMIM:619234
84265	POLR3GL	HP:0001537	Umbilical hernia	1/3	OMIM:619234
84265	POLR3GL	HP:0001510	Growth delay	3/3	OMIM:619234
84265	POLR3GL	HP:0012378	Fatigue	2/3	OMIM:619234
84265	POLR3GL	HP:0002938	Lumbar hyperlordosis	1/3	OMIM:619234
84265	POLR3GL	HP:0000319	Smooth philtrum	2/3	OMIM:619234
84265	POLR3GL	HP:0001730	Progressive hearing impairment	1/3	OMIM:619234
84265	POLR3GL	HP:0000483	Astigmatism	1/3	OMIM:619234
84265	POLR3GL	HP:0001770	Toe syndactyly	3/3	OMIM:619234
84265	POLR3GL	HP:0001762	Talipes equinovarus	3/3	OMIM:619234
84265	POLR3GL	HP:0001847	Long hallux	2/3	OMIM:619234
84265	POLR3GL	HP:0000520	Proptosis	1/3	OMIM:619234
84265	POLR3GL	HP:0000582	Upslanted palpebral fissure	2/3	OMIM:619234
84274	COQ5	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	3/3	OMIM:619028
84274	COQ5	HP:0010865	Oppositional defiant disorder	1/3	OMIM:619028
84274	COQ5	HP:0001298	Encephalopathy	3/3	OMIM:619028
84274	COQ5	HP:0001272	Cerebellar atrophy	2/3	OMIM:619028
84274	COQ5	HP:0001251	Ataxia	3/3	OMIM:619028
84274	COQ5	HP:0001263	Global developmental delay	3/3	OMIM:619028
84274	COQ5	HP:0001348	Brisk reflexes	2/3	OMIM:619028
84274	COQ5	HP:0000007	Autosomal recessive inheritance	-	OMIM:619028
84274	COQ5	HP:0001337	Tremor	1/3	OMIM:619028
84274	COQ5	HP:0001336	Myoclonus	2/3	OMIM:619028
84274	COQ5	HP:0001310	Dysmetria	2/3	OMIM:619028
84274	COQ5	HP:0002061	Lower limb spasticity	1/3	OMIM:619028
84274	COQ5	HP:0010602	Type 2 muscle fiber predominance	1/1	OMIM:619028
84274	COQ5	HP:0100710	Impulsivity	1/3	OMIM:619028
84274	COQ5	HP:0000666	Horizontal nystagmus	3/3	OMIM:619028
84274	COQ5	HP:0000736	Short attention span	1/3	OMIM:619028
84274	COQ5	HP:0031629	Impaired tandem gait	3/3	OMIM:619028
84274	COQ5	HP:0000514	Slow saccadic eye movements	1/3	OMIM:619028
84274	COQ5	HP:0000571	Hypometric saccades	1/3	OMIM:619028
84277	DNAJC30	HP:0001181	Adducted thumb	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0001297	Stroke	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0001288	Gait disturbance	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0001252	Hypotonia	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0001251	Ataxia	HP:0040283	ORPHA:104
84277	DNAJC30	HP:0001251	Ataxia	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0001249	Intellectual disability	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0001260	Dysarthria	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0001257	Spasticity	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000093	Proteinuria	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000075	Renal duplication	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0001387	Joint stiffness	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000014	Abnormality of the bladder	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0001361	Nystagmus-induced head nodding	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000025	Functional abnormality of male internal genitalia	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000007	Autosomal recessive inheritance	-	OMIM:619382
84277	DNAJC30	HP:0001337	Tremor	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0001310	Dysmetria	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0002650	Scoliosis	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0002623	Overriding aorta	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0000158	Macroglossia	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0000154	Wide mouth	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0007663	Reduced visual acuity	-	OMIM:619382
84277	DNAJC30	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000125	Pelvic kidney	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0002024	Malabsorption	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0002019	Constipation	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0002027	Abdominal pain	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0100539	Periorbital edema	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0002141	Gait imbalance	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0002183	Phonophobia	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0002174	Postural tremor	HP:0040283	ORPHA:104
84277	DNAJC30	HP:0010526	Dysgraphia	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0002253	Colonic diverticula	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0100785	Insomnia	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0200125	Mitochondrial respiratory chain defects	HP:0040281	ORPHA:104
84277	DNAJC30	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0032036	Reduced contrast sensitivity	HP:0040283	ORPHA:104
84277	DNAJC30	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0002376	Developmental regression	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:104
84277	DNAJC30	HP:0010807	Open bite	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0008499	High hypermetropia	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0020120	Retinal nerve fiber edema	-	OMIM:619382
84277	DNAJC30	HP:0020120	Retinal nerve fiber edema	HP:0040283	ORPHA:104
84277	DNAJC30	HP:0010780	Hyperacusis	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0002308	Chiari malformation	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0003621	Juvenile onset	10/28	OMIM:619382
84277	DNAJC30	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0004295	Abnormal gastric mucosa morphology	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000635	Blue irides	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000649	Abnormality of visual evoked potentials	HP:0040283	ORPHA:104
84277	DNAJC30	HP:0000648	Optic atrophy	HP:0040282	ORPHA:104
84277	DNAJC30	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000622	Blurred vision	HP:0040282	ORPHA:104
84277	DNAJC30	HP:0000603	Central scotoma	HP:0040282	ORPHA:104
84277	DNAJC30	HP:0000603	Central scotoma	24/29	OMIM:619382
84277	DNAJC30	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000691	Microdontia	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000670	Carious teeth	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0000668	Hypodontia	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0004322	Short stature	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0004309	Ventricular preexcitation	HP:0040283	ORPHA:104
84277	DNAJC30	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0004305	Involuntary movements	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0004381	Supravalvular aortic stenosis	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0100025	Overfriendliness	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000739	Anxiety	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0000716	Depression	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0000717	Autism	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0011463	Childhood onset	1/28	OMIM:619382
84277	DNAJC30	HP:0011462	Young adult onset	17/28	OMIM:619382
84277	DNAJC30	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0004428	Elfin facies	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0003198	Myopathy	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0003198	Myopathy	HP:0040283	ORPHA:104
84277	DNAJC30	HP:0003196	Short nose	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0012841	Retinal vascular tortuosity	HP:0040282	ORPHA:104
84277	DNAJC30	HP:0000826	Precocious puberty	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000822	Hypertension	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000960	Sacral dimple	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000939	Osteoporosis	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000938	Osteopenia	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0011675	Arrhythmia	HP:0040283	ORPHA:104
84277	DNAJC30	HP:0007720	Flat cornea	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000286	Epicanthus	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0000280	Coarse facial features	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0000275	Narrow face	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0007763	Retinal telangiectasia	-	OMIM:619382
84277	DNAJC30	HP:0007763	Retinal telangiectasia	HP:0040282	ORPHA:104
84277	DNAJC30	HP:0007768	Central retinal vessel vascular tortuosity	-	OMIM:619382
84277	DNAJC30	HP:0002829	Arthralgia	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0002808	Kyphosis	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000252	Microcephaly	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0001582	Redundant skin	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0002857	Genu valgum	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0001513	Obesity	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0001609	Hoarse voice	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0001618	Dysphonia	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000343	Long philtrum	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000337	Broad forehead	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000348	High forehead	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0000347	Micrognathia	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000307	Pointed chin	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0007957	Corneal opacity	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0007924	Slow decrease in visual acuity	HP:0040281	ORPHA:104
84277	DNAJC30	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000400	Macrotia	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0000486	Strabismus	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000485	Megalocornea	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000464	Abnormality of the neck	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0001763	Pes planus	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000411	Protruding ear	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0000518	Cataract	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0000512	Abnormal electroretinogram	HP:0040283	ORPHA:104
84277	DNAJC30	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:104
84277	DNAJC30	HP:0001822	Hallux valgus	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000505	Visual impairment	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000501	Glaucoma	HP:0040283	ORPHA:904
84277	DNAJC30	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:904
84277	DNAJC30	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:904
84277	DNAJC30	HP:0000576	Centrocecal scotoma	HP:0040282	ORPHA:104
84277	DNAJC30	HP:0000551	Color vision defect	HP:0040283	ORPHA:104
84277	DNAJC30	HP:0000545	Myopia	HP:0040283	ORPHA:904
84282	RNF135	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:137634
84282	RNF135	HP:0000098	Tall stature	HP:0040281	ORPHA:137634
84282	RNF135	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:137634
84282	RNF135	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:137634
84282	RNF135	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:137634
84282	RNF135	HP:0005616	Accelerated skeletal maturation	HP:0040283	ORPHA:137634
84282	RNF135	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:137634
84282	RNF135	HP:0012741	Unilateral cryptorchidism	HP:0040283	ORPHA:137634
84282	RNF135	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:137634
84282	RNF135	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:137634
84282	RNF135	HP:0000729	Autistic behavior	HP:0040283	ORPHA:137634
84282	RNF135	HP:0008058	Aplasia/Hypoplasia of the optic nerve	HP:0040283	ORPHA:137634
84282	RNF135	HP:0000256	Macrocephaly	HP:0040281	ORPHA:137634
84282	RNF135	HP:0000267	Cranial asymmetry	HP:0040283	ORPHA:137634
84282	RNF135	HP:0001548	Overgrowth	HP:0040281	ORPHA:137634
84282	RNF135	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:137634
84282	RNF135	HP:0001520	Large for gestational age	HP:0040281	ORPHA:137634
84282	RNF135	HP:0011098	Speech apraxia	HP:0040283	ORPHA:137634
84282	RNF135	HP:0000365	Hearing impairment	HP:0040283	ORPHA:137634
84282	RNF135	HP:0000343	Long philtrum	HP:0040281	ORPHA:137634
84282	RNF135	HP:0000337	Broad forehead	HP:0040281	ORPHA:137634
84282	RNF135	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:137634
84282	RNF135	HP:0001641	Abnormal pulmonary valve morphology	HP:0040283	ORPHA:137634
84282	RNF135	HP:0000486	Strabismus	HP:0040283	ORPHA:137634
84282	RNF135	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:137634
84282	RNF135	HP:0000455	Broad nasal tip	HP:0040281	ORPHA:137634
84295	PHF6	HP:0001182	Tapered finger	HP:0040281	ORPHA:127
84295	PHF6	HP:0001182	Tapered finger	-	OMIM:301900
84295	PHF6	HP:0010864	Intellectual disability, severe	-	OMIM:301900
84295	PHF6	HP:0001290	Generalized hypotonia	-	OMIM:301900
84295	PHF6	HP:0001250	Seizure	HP:0040283	ORPHA:127
84295	PHF6	HP:0001250	Seizure	-	OMIM:301900
84295	PHF6	HP:0001252	Hypotonia	HP:0040281	ORPHA:127
84295	PHF6	HP:0001252	Hypotonia	-	OMIM:301900
84295	PHF6	HP:0001249	Intellectual disability	HP:0040281	ORPHA:127
84295	PHF6	HP:0006110	Shortening of all middle phalanges of the fingers	-	OMIM:301900
84295	PHF6	HP:0006118	Shortening of all distal phalanges of the fingers	-	OMIM:301900
84295	PHF6	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:127
84295	PHF6	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:127
84295	PHF6	HP:0008687	Hypoplasia of the prostate	-	OMIM:301900
84295	PHF6	HP:0000046	Small scrotum	HP:0040281	ORPHA:127
84295	PHF6	HP:0000054	Micropenis	-	OMIM:301900
84295	PHF6	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:127
84295	PHF6	HP:0002684	Thickened calvaria	-	OMIM:301900
84295	PHF6	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:127
84295	PHF6	HP:0000028	Cryptorchidism	-	OMIM:301900
84295	PHF6	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:127
84295	PHF6	HP:0002650	Scoliosis	-	OMIM:301900
84295	PHF6	HP:0000135	Hypogonadism	HP:0040281	ORPHA:127
84295	PHF6	HP:0001419	X-linked recessive inheritance	-	OMIM:301900
84295	PHF6	HP:0009748	Large earlobe	HP:0040281	ORPHA:127
84295	PHF6	HP:0002353	EEG abnormality	-	OMIM:301900
84295	PHF6	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:127
84295	PHF6	HP:0008478	Scheuermann-like vertebral changes	-	OMIM:301900
84295	PHF6	HP:0008445	Cervical spinal canal stenosis	-	OMIM:301900
84295	PHF6	HP:0000639	Nystagmus	HP:0040283	ORPHA:127
84295	PHF6	HP:0000639	Nystagmus	-	OMIM:301900
84295	PHF6	HP:0001956	Truncal obesity	HP:0040281	ORPHA:127
84295	PHF6	HP:0004322	Short stature	HP:0040283	ORPHA:127
84295	PHF6	HP:0004322	Short stature	-	OMIM:301900
84295	PHF6	HP:0000771	Gynecomastia	-	OMIM:301900
84295	PHF6	HP:0000771	Gynecomastia	HP:0040281	ORPHA:127
84295	PHF6	HP:0000823	Delayed puberty	-	OMIM:301900
84295	PHF6	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:127
84295	PHF6	HP:0003272	Abnormal hip bone morphology	HP:0040283	ORPHA:127
84295	PHF6	HP:0045025	Narrow palpebral fissure	-	OMIM:301900
84295	PHF6	HP:0008094	Widely spaced toes	-	OMIM:301900
84295	PHF6	HP:0008070	Sparse hair	HP:0040281	ORPHA:127
84295	PHF6	HP:0000280	Coarse facial features	HP:0040281	ORPHA:127
84295	PHF6	HP:0000280	Coarse facial features	-	OMIM:301900
84295	PHF6	HP:0000256	Macrocephaly	HP:0040283	ORPHA:127
84295	PHF6	HP:0002808	Kyphosis	-	OMIM:301900
84295	PHF6	HP:0000252	Microcephaly	HP:0040283	ORPHA:127
84295	PHF6	HP:0000252	Microcephaly	-	OMIM:301900
84295	PHF6	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:127
84295	PHF6	HP:0001513	Obesity	-	OMIM:301900
84295	PHF6	HP:0000365	Hearing impairment	HP:0040283	ORPHA:127
84295	PHF6	HP:0000336	Prominent supraorbital ridges	-	OMIM:301900
84295	PHF6	HP:0000336	Prominent supraorbital ridges	HP:0040282	ORPHA:127
84295	PHF6	HP:0000400	Macrotia	-	OMIM:301900
84295	PHF6	HP:0000490	Deeply set eye	HP:0040282	ORPHA:127
84295	PHF6	HP:0000490	Deeply set eye	-	OMIM:301900
84295	PHF6	HP:0001769	Broad foot	HP:0040281	ORPHA:127
84295	PHF6	HP:0000518	Cataract	HP:0040283	ORPHA:127
84295	PHF6	HP:0000508	Ptosis	HP:0040282	ORPHA:127
84295	PHF6	HP:0000508	Ptosis	-	OMIM:301900
84295	PHF6	HP:0001836	Camptodactyly of toe	HP:0040281	ORPHA:127
84295	PHF6	HP:0000505	Visual impairment	-	OMIM:301900
84295	PHF6	HP:0001831	Short toe	-	OMIM:301900
84295	PHF6	HP:0001831	Short toe	HP:0040281	ORPHA:127
84295	PHF6	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:127
84295	PHF6	HP:0000581	Blepharophimosis	-	OMIM:301900
84295	PHF6	HP:0000574	Thick eyebrow	HP:0040282	ORPHA:127
84300	UQCC2	HP:0002490	Increased CSF lactate	1/1	OMIM:615824
84300	UQCC2	HP:0002465	Poor speech	-	OMIM:615824
84300	UQCC2	HP:0001250	Seizure	2/2	OMIM:615824
84300	UQCC2	HP:0001252	Hypotonia	1/1	OMIM:615824
84300	UQCC2	HP:0001263	Global developmental delay	1/1	OMIM:615824
84300	UQCC2	HP:0000028	Cryptorchidism	1/1	OMIM:615824
84300	UQCC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615824
84300	UQCC2	HP:0001319	Neonatal hypotonia	1/1	OMIM:615824
84300	UQCC2	HP:0002013	Vomiting	1/1	OMIM:615824
84300	UQCC2	HP:0002049	Proximal renal tubular acidosis	1/1	OMIM:615824
84300	UQCC2	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:615824
84300	UQCC2	HP:0002133	Status epilepticus	1/1	OMIM:615824
84300	UQCC2	HP:0011924	Decreased activity of mitochondrial complex III	1/1	OMIM:615824
84300	UQCC2	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:615824
84300	UQCC2	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:615824
84300	UQCC2	HP:0008314	Decreased activity of mitochondrial complex II	0/1	OMIM:615824
84300	UQCC2	HP:0003623	Neonatal onset	2/2	OMIM:615824
84300	UQCC2	HP:0004902	Congenital lactic acidosis	1/1	OMIM:615824
84300	UQCC2	HP:0001942	Metabolic acidosis	-	OMIM:615824
84300	UQCC2	HP:0000664	Synophrys	1/1	OMIM:615824
84300	UQCC2	HP:0000752	Hyperactivity	-	OMIM:615824
84300	UQCC2	HP:0000718	Aggressive behavior	1/1	OMIM:615824
84300	UQCC2	HP:0003128	Lactic acidosis	1/1	OMIM:615824
84300	UQCC2	HP:0100259	Postaxial polydactyly	-	OMIM:615824
84300	UQCC2	HP:0000286	Epicanthus	1/1	OMIM:615824
84300	UQCC2	HP:0001562	Oligohydramnios	1/1	OMIM:615824
84300	UQCC2	HP:0001508	Failure to thrive	1/1	OMIM:615824
84300	UQCC2	HP:0001511	Intrauterine growth retardation	2/2	OMIM:615824
84300	UQCC2	HP:0001623	Breech presentation	1/1	OMIM:615824
84300	UQCC2	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:615824
84300	UQCC2	HP:0005280	Depressed nasal bridge	1/1	OMIM:615824
84300	UQCC2	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:615824
84314	TMEM107	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:564
84314	TMEM107	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:564
84314	TMEM107	HP:0001162	Postaxial hand polydactyly	1/1	OMIM:617563
84314	TMEM107	HP:0010864	Intellectual disability, severe	-	OMIM:617563
84314	TMEM107	HP:0002419	Molar tooth sign on MRI	0/1	OMIM:617563
84314	TMEM107	HP:0002419	Molar tooth sign on MRI	-	OMIM:617562
84314	TMEM107	HP:0001270	Motor delay	1/1	OMIM:617563
84314	TMEM107	HP:0001252	Hypotonia	1/1	OMIM:617563
84314	TMEM107	HP:0001251	Ataxia	-	OMIM:617563
84314	TMEM107	HP:0001251	Ataxia	-	OMIM:617562
84314	TMEM107	HP:0001249	Intellectual disability	-	OMIM:617562
84314	TMEM107	HP:0001263	Global developmental delay	1/1	OMIM:617563
84314	TMEM107	HP:0001263	Global developmental delay	-	OMIM:617562
84314	TMEM107	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:564
84314	TMEM107	HP:0002540	Inability to walk	-	OMIM:617563
84314	TMEM107	HP:0000068	Urethral atresia	HP:0040283	ORPHA:564
84314	TMEM107	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:564
84314	TMEM107	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:564
84314	TMEM107	HP:0001371	Flexion contracture	-	OMIM:617562
84314	TMEM107	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:564
84314	TMEM107	HP:0000023	Inguinal hernia	1/1	OMIM:617563
84314	TMEM107	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:564
84314	TMEM107	HP:0000007	Autosomal recessive inheritance	-	OMIM:617563
84314	TMEM107	HP:0000007	Autosomal recessive inheritance	-	OMIM:617562
84314	TMEM107	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:564
84314	TMEM107	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:564
84314	TMEM107	HP:0001321	Cerebellar hypoplasia	-	OMIM:617562
84314	TMEM107	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:564
84314	TMEM107	HP:0000175	Cleft palate	HP:0040282	ORPHA:564
84314	TMEM107	HP:0000113	Polycystic kidney dysplasia	-	OMIM:617562
84314	TMEM107	HP:0011802	Hamartoma of tongue	-	OMIM:617563
84314	TMEM107	HP:0002085	Occipital encephalocele	-	OMIM:617562
84314	TMEM107	HP:0002084	Encephalocele	HP:0040281	ORPHA:564
84314	TMEM107	HP:0010459	True hermaphroditism	HP:0040283	ORPHA:564
84314	TMEM107	HP:0002119	Ventriculomegaly	-	OMIM:617563
84314	TMEM107	HP:0002104	Apnea	-	OMIM:617563
84314	TMEM107	HP:0003577	Congenital onset	1/1	OMIM:617563
84314	TMEM107	HP:0100732	Pancreatic fibrosis	HP:0040283	ORPHA:564
84314	TMEM107	HP:0002282	Gray matter heterotopia	-	OMIM:617563
84314	TMEM107	HP:0002323	Anencephaly	HP:0040283	ORPHA:564
84314	TMEM107	HP:0006870	Lobar holoprosencephaly	HP:0040282	ORPHA:564
84314	TMEM107	HP:0000648	Optic atrophy	HP:0040282	ORPHA:564
84314	TMEM107	HP:0000647	Sclerocornea	HP:0040282	ORPHA:564
84314	TMEM107	HP:0000657	Oculomotor apraxia	-	OMIM:617563
84314	TMEM107	HP:0000657	Oculomotor apraxia	-	OMIM:617562
84314	TMEM107	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:564
84314	TMEM107	HP:0012745	Short palpebral fissure	1/1	OMIM:617563
84314	TMEM107	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:564
84314	TMEM107	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040282	ORPHA:564
84314	TMEM107	HP:0000278	Retrognathia	1/1	OMIM:617563
84314	TMEM107	HP:0000293	Full cheeks	HP:0040282	ORPHA:564
84314	TMEM107	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:564
84314	TMEM107	HP:0000252	Microcephaly	HP:0040281	ORPHA:564
84314	TMEM107	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:564
84314	TMEM107	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:564
84314	TMEM107	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:564
84314	TMEM107	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:564
84314	TMEM107	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:564
84314	TMEM107	HP:0000369	Low-set ears	1/1	OMIM:617563
84314	TMEM107	HP:0000340	Sloping forehead	HP:0040282	ORPHA:564
84314	TMEM107	HP:0000347	Micrognathia	HP:0040282	ORPHA:564
84314	TMEM107	HP:0000347	Micrognathia	-	OMIM:617562
84314	TMEM107	HP:0000316	Hypertelorism	HP:0040282	ORPHA:564
84314	TMEM107	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:564
84314	TMEM107	HP:0005280	Depressed nasal bridge	1/1	OMIM:617563
84314	TMEM107	HP:0000482	Microcornea	HP:0040282	ORPHA:564
84314	TMEM107	HP:0000488	Retinopathy	-	OMIM:617563
84314	TMEM107	HP:0000488	Retinopathy	-	OMIM:617562
84314	TMEM107	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:564
84314	TMEM107	HP:0001746	Asplenia	HP:0040283	ORPHA:564
84314	TMEM107	HP:0001747	Accessory spleen	HP:0040283	ORPHA:564
84314	TMEM107	HP:0006706	Cystic liver disease	HP:0040283	ORPHA:564
84314	TMEM107	HP:0000518	Cataract	HP:0040282	ORPHA:564
84314	TMEM107	HP:0000528	Anophthalmia	HP:0040283	ORPHA:564
84314	TMEM107	HP:0000508	Ptosis	-	OMIM:617563
84314	TMEM107	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:564
84314	TMEM107	HP:0001830	Postaxial foot polydactyly	1/1	OMIM:617563
84314	TMEM107	HP:0000568	Microphthalmia	HP:0040282	ORPHA:564
84314	TMEM107	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:564
84314	TMEM107	HP:0001883	Talipes	HP:0040282	ORPHA:564
84317	VMA22	HP:0001290	Generalized hypotonia	3/4	OMIM:616828
84317	VMA22	HP:0001250	Seizure	1/4	OMIM:616828
84317	VMA22	HP:0001263	Global developmental delay	3/4	OMIM:616828
84317	VMA22	HP:0001399	Hepatic failure	2/5	OMIM:616828
84317	VMA22	HP:0001394	Cirrhosis	-	OMIM:616828
84317	VMA22	HP:0025321	Copper accumulation in liver	-	OMIM:616828
84317	VMA22	HP:0000007	Autosomal recessive inheritance	-	OMIM:616828
84317	VMA22	HP:0002611	Cholestatic liver disease	-	OMIM:616828
84317	VMA22	HP:0001433	Hepatosplenomegaly	3/5	OMIM:616828
84317	VMA22	HP:0003593	Infantile onset	-	OMIM:616828
84317	VMA22	HP:0002240	Hepatomegaly	-	OMIM:616828
84317	VMA22	HP:0010639	Elevated alkaline phosphatase of bone origin	5/5	OMIM:616828
84317	VMA22	HP:0010837	Decreased circulating ceruloplasmin concentration	3/3	OMIM:616828
84317	VMA22	HP:0001999	Abnormal facial shape	HP:0040283	OMIM:616828
84317	VMA22	HP:0003124	Hypercholesterolemia	5/5	OMIM:616828
84317	VMA22	HP:0003141	Increased LDL cholesterol concentration	5/5	OMIM:616828
84317	VMA22	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	OMIM:616828
84317	VMA22	HP:0003202	Skeletal muscle atrophy	-	OMIM:616828
84317	VMA22	HP:0000276	Long face	HP:0040283	OMIM:616828
84317	VMA22	HP:0006579	Prolonged neonatal jaundice	-	OMIM:616828
84317	VMA22	HP:0002910	Elevated circulating hepatic transaminase concentration	5/5	OMIM:616828
84317	VMA22	HP:0012345	Abnormal glycosylation	5/5	OMIM:616828
84317	VMA22	HP:0000494	Downslanted palpebral fissures	HP:0040283	OMIM:616828
84317	VMA22	HP:0001744	Splenomegaly	-	OMIM:616828
84317	VMA22	HP:0000508	Ptosis	HP:0040283	OMIM:616828
84320	ACBD6	HP:0001182	Tapered finger	1/45	OMIM:620785
84320	ACBD6	HP:0025161	Frequent temper tantrums	19/36	OMIM:620785
84320	ACBD6	HP:0001278	Orthostatic hypotension	0/15	OMIM:620785
84320	ACBD6	HP:0001272	Cerebellar atrophy	1/45	OMIM:620785
84320	ACBD6	HP:0001274	Agenesis of corpus callosum	3/3	OMIM:620785
84320	ACBD6	HP:0001250	Seizure	3/3	OMIM:620785
84320	ACBD6	HP:0001252	Hypotonia	2/45	OMIM:620785
84320	ACBD6	HP:0001251	Ataxia	33/39	OMIM:620785
84320	ACBD6	HP:0002591	Polyphagia	1/45	OMIM:620785
84320	ACBD6	HP:0001263	Global developmental delay	45/45	OMIM:620785
84320	ACBD6	HP:0001257	Spasticity	4/7	OMIM:620785
84320	ACBD6	HP:0007359	Focal-onset seizure	3/37	OMIM:620785
84320	ACBD6	HP:0002553	Highly arched eyebrow	1/45	OMIM:620785
84320	ACBD6	HP:0000083	Renal insufficiency	1/45	OMIM:620785
84320	ACBD6	HP:0001394	Cirrhosis	1/45	OMIM:620785
84320	ACBD6	HP:0025331	Upgaze palsy	12/27	OMIM:620785
84320	ACBD6	HP:0001382	Joint hypermobility	1/45	OMIM:620785
84320	ACBD6	HP:0000047	Hypospadias	1/45	OMIM:620785
84320	ACBD6	HP:0002684	Thickened calvaria	1/45	OMIM:620785
84320	ACBD6	HP:0000020	Urinary incontinence	13/23	OMIM:620785
84320	ACBD6	HP:0000028	Cryptorchidism	1/45	OMIM:620785
84320	ACBD6	HP:0001332	Dystonia	6/16	OMIM:620785
84320	ACBD6	HP:0001344	Absent speech	5/41	OMIM:620785
84320	ACBD6	HP:0001338	Partial agenesis of the corpus callosum	4/45	OMIM:620785
84320	ACBD6	HP:0000007	Autosomal recessive inheritance	-	OMIM:620785
84320	ACBD6	HP:0001337	Tremor	22/37	OMIM:620785
84320	ACBD6	HP:0001320	Cerebellar vermis hypoplasia	1/1	OMIM:620785
84320	ACBD6	HP:0002650	Scoliosis	3/27	OMIM:620785
84320	ACBD6	HP:0001300	Parkinsonism	11/26	OMIM:620785
84320	ACBD6	HP:0000175	Cleft palate	1/45	OMIM:620785
84320	ACBD6	HP:0025403	Stooped posture	29/30	OMIM:620785
84320	ACBD6	HP:0002788	Recurrent upper respiratory tract infections	1/45	OMIM:620785
84320	ACBD6	HP:0002069	Bilateral tonic-clonic seizure	3/37	OMIM:620785
84320	ACBD6	HP:0002061	Lower limb spasticity	27/34	OMIM:620785
84320	ACBD6	HP:0002079	Hypoplasia of the corpus callosum	5/45	OMIM:620785
84320	ACBD6	HP:0002123	Generalized myoclonic seizure	2/37	OMIM:620785
84320	ACBD6	HP:0002119	Ventriculomegaly	3/45	OMIM:620785
84320	ACBD6	HP:0002172	Postural instability	15/25	OMIM:620785
84320	ACBD6	HP:0100716	Self-injurious behavior	8/34	OMIM:620785
84320	ACBD6	HP:0007068	Inferior cerebellar vermis hypoplasia	5/45	OMIM:620785
84320	ACBD6	HP:0002360	Sleep abnormality	15/15	OMIM:620785
84320	ACBD6	HP:0010819	Atonic seizure	1/37	OMIM:620785
84320	ACBD6	HP:0200055	Small hand	1/45	OMIM:620785
84320	ACBD6	HP:0000639	Nystagmus	1/45	OMIM:620785
84320	ACBD6	HP:0000662	Nyctalopia	1/45	OMIM:620785
84320	ACBD6	HP:0006986	Upper limb spasticity	9/22	OMIM:620785
84320	ACBD6	HP:0031936	Delayed ability to walk	32/33	OMIM:620785
84320	ACBD6	HP:0100033	Tics	7/19	OMIM:620785
84320	ACBD6	HP:0000750	Delayed speech and language development	36/36	OMIM:620785
84320	ACBD6	HP:0000718	Aggressive behavior	14/37	OMIM:620785
84320	ACBD6	HP:0000729	Autistic behavior	13/27	OMIM:620785
84320	ACBD6	HP:0000819	Diabetes mellitus	1/45	OMIM:620785
84320	ACBD6	HP:0000822	Hypertension	1/45	OMIM:620785
84320	ACBD6	HP:0000969	Edema	1/45	OMIM:620785
84320	ACBD6	HP:0000286	Epicanthus	2/45	OMIM:620785
84320	ACBD6	HP:0000280	Coarse facial features	22/37	OMIM:620785
84320	ACBD6	HP:0000276	Long face	1/45	OMIM:620785
84320	ACBD6	HP:0002808	Kyphosis	2/45	OMIM:620785
84320	ACBD6	HP:0000238	Hydrocephalus	1/45	OMIM:620785
84320	ACBD6	HP:0000219	Thin upper lip vermilion	23/36	OMIM:620785
84320	ACBD6	HP:0000232	Everted lower lip vermilion	16/35	OMIM:620785
84320	ACBD6	HP:0002870	Obstructive sleep apnea	1/45	OMIM:620785
84320	ACBD6	HP:0030048	Colpocephaly	1/45	OMIM:620785
84320	ACBD6	HP:0001513	Obesity	6/45	OMIM:620785
84320	ACBD6	HP:0011003	High myopia	3/45	OMIM:620785
84320	ACBD6	HP:0000322	Short philtrum	2/45	OMIM:620785
84320	ACBD6	HP:0000303	Mandibular prognathia	9/34	OMIM:620785
84320	ACBD6	HP:0030302	Agenesis of the anterior commissure	4/45	OMIM:620785
84320	ACBD6	HP:0005280	Depressed nasal bridge	24/36	OMIM:620785
84320	ACBD6	HP:0000486	Strabismus	1/45	OMIM:620785
84320	ACBD6	HP:0012469	Infantile spasms	1/37	OMIM:620785
84320	ACBD6	HP:0000490	Deeply set eye	16/33	OMIM:620785
84320	ACBD6	HP:0012444	Brain atrophy	1/45	OMIM:620785
84320	ACBD6	HP:0000445	Wide nose	24/36	OMIM:620785
84320	ACBD6	HP:0001762	Talipes equinovarus	1/45	OMIM:620785
84320	ACBD6	HP:0000506	Telecanthus	3/45	OMIM:620785
84320	ACBD6	HP:0000505	Visual impairment	1/45	OMIM:620785
84320	ACBD6	HP:0000582	Upslanted palpebral fissure	20/37	OMIM:620785
84320	ACBD6	HP:0000540	Hypermetropia	1/45	OMIM:620785
84320	ACBD6	HP:0001876	Pancytopenia	1/45	OMIM:620785
84334	COA8	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:436271
84334	COA8	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040282	ORPHA:436271
84334	COA8	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:436271
84334	COA8	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:436271
84334	COA8	HP:0001270	Motor delay	HP:0040282	ORPHA:436271
84334	COA8	HP:0001288	Gait disturbance	HP:0040282	ORPHA:436271
84334	COA8	HP:0001285	Spastic tetraparesis	HP:0040283	ORPHA:436271
84334	COA8	HP:0001285	Spastic tetraparesis	5/6	OMIM:619061
84334	COA8	HP:0001250	Seizure	2/6	OMIM:619061
84334	COA8	HP:0001250	Seizure	HP:0040282	ORPHA:436271
84334	COA8	HP:0001251	Ataxia	HP:0040282	ORPHA:436271
84334	COA8	HP:0001251	Ataxia	2/6	OMIM:619061
84334	COA8	HP:0001249	Intellectual disability	3/6	OMIM:619061
84334	COA8	HP:0001249	Intellectual disability	HP:0040282	ORPHA:436271
84334	COA8	HP:0001260	Dysarthria	2/6	OMIM:619061
84334	COA8	HP:0001263	Global developmental delay	HP:0040282	ORPHA:436271
84334	COA8	HP:0001262	Excessive daytime somnolence	HP:0040282	ORPHA:436271
84334	COA8	HP:0000093	Proteinuria	HP:0040282	ORPHA:436271
84334	COA8	HP:0000007	Autosomal recessive inheritance	-	OMIM:619061
84334	COA8	HP:0000124	Renal tubular dysfunction	HP:0040282	ORPHA:436271
84334	COA8	HP:0001410	Decreased liver function	HP:0040282	ORPHA:436271
84334	COA8	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:436271
84334	COA8	HP:0003355	Aminoaciduria	HP:0040282	ORPHA:436271
84334	COA8	HP:0002013	Vomiting	HP:0040283	ORPHA:436271
84334	COA8	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:436271
84334	COA8	HP:0040291	Skeletal muscle steatosis	HP:0040282	ORPHA:436271
84334	COA8	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:436271
84334	COA8	HP:0008347	Decreased activity of mitochondrial complex IV	6/6	OMIM:619061
84334	COA8	HP:0033369	Cavitating leukodystrophy	6/6	OMIM:619061
84334	COA8	HP:0003688	Cytochrome C oxidase-negative muscle fibers	-	OMIM:619061
84334	COA8	HP:0002376	Developmental regression	HP:0040282	ORPHA:436271
84334	COA8	HP:0002376	Developmental regression	5/6	OMIM:619061
84334	COA8	HP:0007141	Sensorimotor neuropathy	3/6	OMIM:619061
84334	COA8	HP:0007133	Progressive peripheral neuropathy	HP:0040281	ORPHA:436271
84334	COA8	HP:0000648	Optic atrophy	HP:0040282	ORPHA:436271
84334	COA8	HP:0001903	Anemia	HP:0040282	ORPHA:436271
84334	COA8	HP:0001994	Renal Fanconi syndrome	HP:0040282	ORPHA:436271
84334	COA8	HP:0006980	Progressive leukoencephalopathy	HP:0040281	ORPHA:436271
84334	COA8	HP:0003076	Glycosuria	HP:0040282	ORPHA:436271
84334	COA8	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:436271
84334	COA8	HP:0000750	Delayed speech and language development	1/6	OMIM:619061
84334	COA8	HP:0011463	Childhood onset	6/6	OMIM:619061
84334	COA8	HP:0003109	Hyperphosphaturia	HP:0040282	ORPHA:436271
84334	COA8	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:436271
84334	COA8	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:436271
84334	COA8	HP:0001508	Failure to thrive	HP:0040282	ORPHA:436271
84334	COA8	HP:0006555	Diffuse hepatic steatosis	HP:0040282	ORPHA:436271
84334	COA8	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:436271
84334	COA8	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:436271
84334	COA8	HP:0000508	Ptosis	HP:0040282	ORPHA:436271
84334	COA8	HP:0000580	Pigmentary retinopathy	HP:0040282	ORPHA:436271
84340	GFM2	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:565624
84340	GFM2	HP:0002490	Increased CSF lactate	-	OMIM:618397
84340	GFM2	HP:0007321	Deep white matter hypodensities	HP:0040282	ORPHA:565624
84340	GFM2	HP:0009879	Simplified gyral pattern	2/2	OMIM:618397
84340	GFM2	HP:0002421	Poor head control	HP:0040282	ORPHA:565624
84340	GFM2	HP:0001272	Cerebellar atrophy	2/2	OMIM:618397
84340	GFM2	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:565624
84340	GFM2	HP:0001250	Seizure	HP:0040283	ORPHA:565624
84340	GFM2	HP:0001260	Dysarthria	HP:0040283	ORPHA:565624
84340	GFM2	HP:0001260	Dysarthria	-	OMIM:618397
84340	GFM2	HP:0001263	Global developmental delay	-	OMIM:618397
84340	GFM2	HP:0001257	Spasticity	-	OMIM:618397
84340	GFM2	HP:0008763	No social interaction	HP:0040282	ORPHA:565624
84340	GFM2	HP:0007371	Corpus callosum atrophy	HP:0040283	ORPHA:565624
84340	GFM2	HP:0007366	Atrophy/Degeneration affecting the brainstem	HP:0040283	ORPHA:565624
84340	GFM2	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:565624
84340	GFM2	HP:0002521	Hypsarrhythmia	HP:0040284	OMIM:618397
84340	GFM2	HP:0002509	Limb hypertonia	HP:0040283	ORPHA:565624
84340	GFM2	HP:0002505	Loss of ambulation	HP:0040282	ORPHA:565624
84340	GFM2	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:565624
84340	GFM2	HP:0003819	Death in childhood	1/2	OMIM:618397
84340	GFM2	HP:0001371	Flexion contracture	HP:0040284	OMIM:618397
84340	GFM2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:565624
84340	GFM2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:565624
84340	GFM2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:565624
84340	GFM2	HP:0001332	Dystonia	-	OMIM:618397
84340	GFM2	HP:0001324	Muscle weakness	HP:0040283	ORPHA:565624
84340	GFM2	HP:0001344	Absent speech	HP:0040282	ORPHA:565624
84340	GFM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618397
84340	GFM2	HP:0001302	Pachygyria	HP:0040284	OMIM:618397
84340	GFM2	HP:0002650	Scoliosis	HP:0040283	ORPHA:565624
84340	GFM2	HP:0002650	Scoliosis	1/2	OMIM:618397
84340	GFM2	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:565624
84340	GFM2	HP:0001317	Abnormal cerebellum morphology	HP:0040282	ORPHA:565624
84340	GFM2	HP:0000194	Open mouth	HP:0040283	ORPHA:565624
84340	GFM2	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:565624
84340	GFM2	HP:0002013	Vomiting	HP:0040283	ORPHA:565624
84340	GFM2	HP:0003394	Muscle spasm	HP:0040283	ORPHA:565624
84340	GFM2	HP:0002061	Lower limb spasticity	HP:0040283	ORPHA:565624
84340	GFM2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:565624
84340	GFM2	HP:0002058	Myopathic facies	-	OMIM:618397
84340	GFM2	HP:0002058	Myopathic facies	HP:0040283	ORPHA:565624
84340	GFM2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:565624
84340	GFM2	HP:0002059	Cerebral atrophy	1/2	OMIM:618397
84340	GFM2	HP:0003487	Babinski sign	HP:0040283	ORPHA:565624
84340	GFM2	HP:0003487	Babinski sign	1/2	OMIM:618397
84340	GFM2	HP:0002151	Increased circulating lactate concentration	HP:0040283	ORPHA:565624
84340	GFM2	HP:0002151	Increased circulating lactate concentration	-	OMIM:618397
84340	GFM2	HP:0002119	Ventriculomegaly	-	OMIM:618397
84340	GFM2	HP:0011924	Decreased activity of mitochondrial complex III	2/2	OMIM:618397
84340	GFM2	HP:0003577	Congenital onset	2/2	OMIM:618397
84340	GFM2	HP:0002205	Recurrent respiratory infections	1/2	OMIM:618397
84340	GFM2	HP:0008347	Decreased activity of mitochondrial complex IV	2/2	OMIM:618397
84340	GFM2	HP:0011968	Feeding difficulties	2/2	OMIM:618397
84340	GFM2	HP:0002376	Developmental regression	-	OMIM:618397
84340	GFM2	HP:0002353	EEG abnormality	HP:0040283	ORPHA:565624
84340	GFM2	HP:0100651	Type I diabetes mellitus	2/2	OMIM:618397
84340	GFM2	HP:0002307	Drooling	HP:0040283	ORPHA:565624
84340	GFM2	HP:0002307	Drooling	-	OMIM:618397
84340	GFM2	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:565624
84340	GFM2	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:565624
84340	GFM2	HP:0031959	Leg dystonia	HP:0040283	ORPHA:565624
84340	GFM2	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:565624
84340	GFM2	HP:0004305	Involuntary movements	-	OMIM:618397
84340	GFM2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:565624
84340	GFM2	HP:0000762	Decreased nerve conduction velocity	HP:0040283	ORPHA:565624
84340	GFM2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:565624
84340	GFM2	HP:0000750	Delayed speech and language development	-	OMIM:618397
84340	GFM2	HP:0012707	Elevated brain lactate level by MRS	1/1	OMIM:618397
84340	GFM2	HP:0012708	Reduced brain N-acetyl aspartate level by MRS	1/1	OMIM:618397
84340	GFM2	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:565624
84340	GFM2	HP:0011448	Ankle clonus	1/2	OMIM:618397
84340	GFM2	HP:0011448	Ankle clonus	HP:0040283	ORPHA:565624
84340	GFM2	HP:0005745	Congenital foot contractures	HP:0040283	ORPHA:565624
84340	GFM2	HP:0000817	Reduced eye contact	HP:0040282	ORPHA:565624
84340	GFM2	HP:0000817	Reduced eye contact	2/2	OMIM:618397
84340	GFM2	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040282	ORPHA:565624
84340	GFM2	HP:0034392	Joint contracture	1/2	OMIM:618397
84340	GFM2	HP:0002803	Congenital contracture	2/2	OMIM:618397
84340	GFM2	HP:0002804	Arthrogryposis multiplex congenita	2/2	OMIM:618397
84340	GFM2	HP:0000252	Microcephaly	HP:0040283	ORPHA:565624
84340	GFM2	HP:0000252	Microcephaly	2/2	OMIM:618397
84340	GFM2	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:565624
84340	GFM2	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:565624
84340	GFM2	HP:0001511	Intrauterine growth retardation	HP:0040284	OMIM:618397
84340	GFM2	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040282	ORPHA:565624
84340	GFM2	HP:0001688	Sinus bradycardia	2/2	OMIM:618397
84340	GFM2	HP:0001662	Bradycardia	HP:0040282	ORPHA:565624
84340	GFM2	HP:0012428	Prominent calcaneus	HP:0040283	ORPHA:565624
84340	GFM2	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:565624
84342	COG8	HP:0001188	Hand clenching	1/4	OMIM:611182
84342	COG8	HP:0002465	Poor speech	HP:0040282	ORPHA:95428
84342	COG8	HP:0001137	Alternating esotropia	HP:0040283	ORPHA:95428
84342	COG8	HP:0001137	Alternating esotropia	0/1	OMIM:611182
84342	COG8	HP:0007267	Chronic axonal neuropathy	HP:0040282	ORPHA:95428
84342	COG8	HP:0007267	Chronic axonal neuropathy	1/1	OMIM:611182
84342	COG8	HP:0010880	Increased nuchal translucency	1/4	OMIM:611182
84342	COG8	HP:0002421	Poor head control	1/1	OMIM:611182
84342	COG8	HP:0002421	Poor head control	HP:0040282	ORPHA:95428
84342	COG8	HP:0032220	Interface hepatitis	1/1	OMIM:611182
84342	COG8	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:95428
84342	COG8	HP:0001272	Cerebellar atrophy	1/1	OMIM:611182
84342	COG8	HP:0001274	Agenesis of corpus callosum	1/1	OMIM:611182
84342	COG8	HP:0001254	Lethargy	1/1	OMIM:611182
84342	COG8	HP:0001250	Seizure	HP:0040282	ORPHA:95428
84342	COG8	HP:0001250	Seizure	1/2	OMIM:611182
84342	COG8	HP:0001252	Hypotonia	3/3	OMIM:611182
84342	COG8	HP:0001251	Ataxia	HP:0040282	ORPHA:95428
84342	COG8	HP:0001251	Ataxia	1/1	OMIM:611182
84342	COG8	HP:0001249	Intellectual disability	HP:0040282	ORPHA:95428
84342	COG8	HP:0001249	Intellectual disability	1/1	OMIM:611182
84342	COG8	HP:0001263	Global developmental delay	3/3	OMIM:611182
84342	COG8	HP:0007420	Spontaneous hematomas	1/3	OMIM:611182
84342	COG8	HP:0007420	Spontaneous hematomas	HP:0040283	ORPHA:95428
84342	COG8	HP:0007366	Atrophy/Degeneration affecting the brainstem	1/1	OMIM:611182
84342	COG8	HP:0007366	Atrophy/Degeneration affecting the brainstem	HP:0040283	ORPHA:95428
84342	COG8	HP:0001344	Absent speech	1/1	OMIM:611182
84342	COG8	HP:0002673	Coxa valga	1/3	OMIM:611182
84342	COG8	HP:0000007	Autosomal recessive inheritance	-	OMIM:611182
84342	COG8	HP:0001336	Myoclonus	HP:0040283	ORPHA:95428
84342	COG8	HP:0001336	Myoclonus	1/1	OMIM:611182
84342	COG8	HP:0001310	Dysmetria	1/1	OMIM:611182
84342	COG8	HP:0001305	Dandy-Walker malformation	1/1	OMIM:611182
84342	COG8	HP:0002650	Scoliosis	0/1	OMIM:611182
84342	COG8	HP:0008947	Floppy infant	4/4	OMIM:611182
84342	COG8	HP:0008947	Floppy infant	HP:0040282	ORPHA:95428
84342	COG8	HP:0002002	Deep philtrum	1/4	OMIM:611182
84342	COG8	HP:0008115	Clinodactyly of the 3rd toe	1/1	OMIM:611182
84342	COG8	HP:0008150	Elevated serum transaminases during infections	1/1	OMIM:611182
84342	COG8	HP:0008151	Prolonged prothrombin time	HP:0040283	ORPHA:95428
84342	COG8	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:95428
84342	COG8	HP:0002119	Ventriculomegaly	1/2	OMIM:611182
84342	COG8	HP:0002133	Status epilepticus	1/1	OMIM:611182
84342	COG8	HP:0003438	Absent Achilles reflex	1/3	OMIM:611182
84342	COG8	HP:0011918	Clinodactyly of the 4th toe	1/1	OMIM:611182
84342	COG8	HP:0003593	Infantile onset	3/3	OMIM:611182
84342	COG8	HP:0002243	Protein-losing enteropathy	HP:0040282	ORPHA:95428
84342	COG8	HP:0004855	Reduced protein S activity	1/1	OMIM:611182
84342	COG8	HP:0010665	Bilateral coxa valga	1/1	OMIM:611182
84342	COG8	HP:0002376	Developmental regression	HP:0040282	ORPHA:95428
84342	COG8	HP:0002376	Developmental regression	1/3	OMIM:611182
84342	COG8	HP:0002335	Agenesis of cerebellar vermis	1/1	OMIM:611182
84342	COG8	HP:0025045	Abnormal brain lactate level by MRS	1/1	OMIM:611182
84342	COG8	HP:0006846	Acute encephalopathy	1/3	OMIM:611182
84342	COG8	HP:0006846	Acute encephalopathy	HP:0040283	ORPHA:95428
84342	COG8	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:95428
84342	COG8	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:95428
84342	COG8	HP:0000657	Oculomotor apraxia	1/1	OMIM:611182
84342	COG8	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:611182
84342	COG8	HP:0034199	Late first trimester onset	1/1	OMIM:611182
84342	COG8	HP:0003196	Short nose	1/4	OMIM:611182
84342	COG8	HP:0040019	Finger clinodactyly	2/3	OMIM:611182
84342	COG8	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:611182
84342	COG8	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:95428
84342	COG8	HP:0034337	Claw hand deformity	1/3	OMIM:611182
84342	COG8	HP:0034360	Action myoclonus	1/3	OMIM:611182
84342	COG8	HP:0000286	Epicanthus	2/5	OMIM:611182
84342	COG8	HP:0000260	Wide anterior fontanel	1/3	OMIM:611182
84342	COG8	HP:0006466	Ankle flexion contracture	1/4	OMIM:611182
84342	COG8	HP:0006380	Knee flexion contracture	1/4	OMIM:611182
84342	COG8	HP:0000253	Progressive microcephaly	HP:0040283	ORPHA:95428
84342	COG8	HP:0000252	Microcephaly	1/1	OMIM:611182
84342	COG8	HP:0000233	Thin vermilion border	1/4	OMIM:611182
84342	COG8	HP:0001508	Failure to thrive	HP:0040282	ORPHA:95428
84342	COG8	HP:0001508	Failure to thrive	1/3	OMIM:611182
84342	COG8	HP:0001511	Intrauterine growth retardation	1/4	OMIM:611182
84342	COG8	HP:0012385	Camptodactyly	1/4	OMIM:611182
84342	COG8	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:95428
84342	COG8	HP:0002910	Elevated circulating hepatic transaminase concentration	2/2	OMIM:611182
84342	COG8	HP:0000369	Low-set ears	1/4	OMIM:611182
84342	COG8	HP:0000347	Micrognathia	0/1	OMIM:611182
84342	COG8	HP:0012301	Type II transferrin isoform profile	3/3	OMIM:611182
84342	COG8	HP:0000316	Hypertelorism	1/4	OMIM:611182
84342	COG8	HP:0005280	Depressed nasal bridge	0/1	OMIM:611182
84342	COG8	HP:0000463	Anteverted nares	1/4	OMIM:611182
84342	COG8	HP:0000474	Thickened nuchal skin fold	1/4	OMIM:611182
84342	COG8	HP:0000470	Short neck	1/3	OMIM:611182
84342	COG8	HP:0000445	Wide nose	1/4	OMIM:611182
84342	COG8	HP:0001762	Talipes equinovarus	0/1	OMIM:611182
84342	COG8	HP:0005484	Secondary microcephaly	1/1	OMIM:611182
84342	COG8	HP:0000582	Upslanted palpebral fissure	1/4	OMIM:611182
84342	COG8	HP:0012537	Food intolerance	HP:0040282	ORPHA:95428
84343	HPS3	HP:0000007	Autosomal recessive inheritance	-	OMIM:614072
84343	HPS3	HP:0007663	Reduced visual acuity	1/1	OMIM:614072
84343	HPS3	HP:0003540	Impaired platelet aggregation	1/1	OMIM:614072
84343	HPS3	HP:0001010	Hypopigmentation of the skin	-	OMIM:614072
84343	HPS3	HP:0001022	Albinism	1/1	OMIM:614072
84343	HPS3	HP:0003621	Juvenile onset	1/1	OMIM:614072
84343	HPS3	HP:0005599	Hypopigmentation of hair	-	OMIM:614072
84343	HPS3	HP:0000639	Nystagmus	1/1	OMIM:614072
84343	HPS3	HP:0000666	Horizontal nystagmus	-	OMIM:614072
84343	HPS3	HP:0006934	Congenital nystagmus	1/1	OMIM:614072
84343	HPS3	HP:0004406	Spontaneous, recurrent epistaxis	1/1	OMIM:614072
84343	HPS3	HP:0000978	Bruising susceptibility	1/1	OMIM:614072
84343	HPS3	HP:0000225	Gingival bleeding	1/1	OMIM:614072
84343	HPS3	HP:0000505	Visual impairment	-	OMIM:614072
84343	HPS3	HP:0001892	Abnormal bleeding	11/11	OMIM:614072
84343	HPS3	HP:0000565	Esotropia	1/1	OMIM:614072
84343	HPS3	HP:0012530	Abnormal number of dense granules	-	OMIM:614072
84376	HOOK3	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
84376	HOOK3	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
84376	HOOK3	HP:0001664	Torsade de pointes	1/46	OMIM:115000
84376	HOOK3	HP:0001645	Sudden cardiac death	-	OMIM:115000
84376	HOOK3	HP:0001663	Ventricular fibrillation	-	OMIM:115000
84376	HOOK3	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
84376	HOOK3	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
84433	CARD11	HP:0034839	Lymphoid hyperplasia	1/1	OMIM:616452
84433	CARD11	HP:0410299	Decreased specific antibody response to polysaccharide vaccine	2/2	OMIM:616452
84433	CARD11	HP:0000007	Autosomal recessive inheritance	-	OMIM:615206
84433	CARD11	HP:0000006	Autosomal dominant inheritance	-	OMIM:616452
84433	CARD11	HP:0000006	Autosomal dominant inheritance	-	OMIM:617638
84433	CARD11	HP:0500093	Food allergy	3/8	OMIM:617638
84433	CARD11	HP:0002719	Recurrent infections	1/1	OMIM:616452
84433	CARD11	HP:0002720	Decreased circulating IgA concentration	1/1	OMIM:616452
84433	CARD11	HP:0002721	Immunodeficiency	1/1	OMIM:615206
84433	CARD11	HP:0002028	Chronic diarrhea	1/8	OMIM:617638
84433	CARD11	HP:0002099	Asthma	5/8	OMIM:617638
84433	CARD11	HP:0002090	Pneumonia	4/8	OMIM:617638
84433	CARD11	HP:0002110	Bronchiectasis	1/8	OMIM:617638
84433	CARD11	HP:0003593	Infantile onset	2/2	OMIM:615206
84433	CARD11	HP:0002205	Recurrent respiratory infections	1/1	OMIM:615206
84433	CARD11	HP:0001047	Atopic dermatitis	8/8	OMIM:617638
84433	CARD11	HP:0020113	Decreased proportion of regulatory T cells	1/1	OMIM:615206
84433	CARD11	HP:0020102	Pneumocystis jirovecii pneumonia	2/2	OMIM:615206
84433	CARD11	HP:0032185	Disseminated molluscum contagiosum	1/8	OMIM:617638
84433	CARD11	HP:0031813	Colonic eosinophilia	1/8	OMIM:617638
84433	CARD11	HP:0004313	Decreased circulating immunoglobulin concentration	1/1	OMIM:615206
84433	CARD11	HP:0004432	Agammaglobulinemia	1/1	OMIM:615206
84433	CARD11	HP:0003212	Increased circulating IgE concentration	5/7	OMIM:617638
84433	CARD11	HP:0100279	Ulcerative colitis	1/8	OMIM:617638
84433	CARD11	HP:0031402	Reduced antigen-specific T cell proliferation	1/1	OMIM:615206
84433	CARD11	HP:0002850	Decreased circulating total IgM	-	OMIM:616452
84433	CARD11	HP:0002850	Decreased circulating total IgM	3/8	OMIM:617638
84433	CARD11	HP:0012312	Decreased total monocyte count	1/1	OMIM:615206
84433	CARD11	HP:0001744	Splenomegaly	1/1	OMIM:616452
84433	CARD11	HP:0005404	Increased total B cell count	4/4	OMIM:616452
84433	CARD11	HP:0031692	Severe cytomegalovirus infection	1/8	OMIM:617638
84433	CARD11	HP:0001880	Increased total eosinophil count	6/7	OMIM:617638
84464	SLX4	HP:0001172	Abnormal thumb morphology	HP:0040281	ORPHA:84
84464	SLX4	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:84
84464	SLX4	HP:0002414	Spina bifida	HP:0040283	ORPHA:84
84464	SLX4	HP:0001249	Intellectual disability	HP:0040282	ORPHA:84
84464	SLX4	HP:0001263	Global developmental delay	HP:0040282	ORPHA:84
84464	SLX4	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:84
84464	SLX4	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:84
84464	SLX4	HP:0007400	Irregular hyperpigmentation	HP:0040281	ORPHA:84
84464	SLX4	HP:0100867	Duodenal stenosis	HP:0040283	ORPHA:84
84464	SLX4	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:84
84464	SLX4	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:84
84464	SLX4	HP:0000085	Horseshoe kidney	1/4	OMIM:613951
84464	SLX4	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:84
84464	SLX4	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:84
84464	SLX4	HP:0000072	Hydroureter	HP:0040283	ORPHA:84
84464	SLX4	HP:0012041	Decreased fertility in males	HP:0040283	ORPHA:84
84464	SLX4	HP:0000047	Hypospadias	HP:0040283	ORPHA:84
84464	SLX4	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:84
84464	SLX4	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:84
84464	SLX4	HP:0000028	Cryptorchidism	HP:0040283	OMIM:613951
84464	SLX4	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:84
84464	SLX4	HP:0000027	Azoospermia	HP:0040283	ORPHA:84
84464	SLX4	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:84
84464	SLX4	HP:0002664	Neoplasm	HP:0040282	ORPHA:84
84464	SLX4	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:84
84464	SLX4	HP:0000007	Autosomal recessive inheritance	-	OMIM:613951
84464	SLX4	HP:0002650	Scoliosis	HP:0040282	ORPHA:84
84464	SLX4	HP:0000175	Cleft palate	HP:0040283	ORPHA:84
84464	SLX4	HP:0000135	Hypogonadism	HP:0040283	ORPHA:84
84464	SLX4	HP:0006265	Aplasia/Hypoplasia of fingers	HP:0040283	ORPHA:84
84464	SLX4	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:84
84464	SLX4	HP:0000125	Pelvic kidney	HP:0040283	OMIM:613951
84464	SLX4	HP:0002023	Anal atresia	HP:0040283	ORPHA:84
84464	SLX4	HP:0002007	Frontal bossing	HP:0040283	ORPHA:84
84464	SLX4	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:84
84464	SLX4	HP:0100587	Abnormal preputium morphology	HP:0040283	ORPHA:84
84464	SLX4	HP:0010469	Absent testis	HP:0040283	ORPHA:84
84464	SLX4	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:84
84464	SLX4	HP:0002245	Meckel diverticulum	HP:0040283	ORPHA:84
84464	SLX4	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:84
84464	SLX4	HP:0100760	Clubbing of toes	HP:0040283	ORPHA:84
84464	SLX4	HP:0001053	Hypopigmented skin patches	HP:0040281	ORPHA:84
84464	SLX4	HP:0001045	Vitiligo	HP:0040283	OMIM:613951
84464	SLX4	HP:0001000	Abnormality of skin pigmentation	HP:0040281	ORPHA:84
84464	SLX4	HP:0009777	Absent thumb	HP:0040283	OMIM:613951
84464	SLX4	HP:0009778	Short thumb	1/4	OMIM:613951
84464	SLX4	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:84
84464	SLX4	HP:0005522	Pyridoxine-responsive sideroblastic anemia	HP:0040281	ORPHA:84
84464	SLX4	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:84
84464	SLX4	HP:0000639	Nystagmus	HP:0040283	ORPHA:84
84464	SLX4	HP:0001903	Anemia	4/4	OMIM:613951
84464	SLX4	HP:0001903	Anemia	HP:0040281	ORPHA:84
84464	SLX4	HP:0012639	Abnormal nervous system morphology	HP:0040283	ORPHA:84
84464	SLX4	HP:0004322	Short stature	-	OMIM:613951
84464	SLX4	HP:0004322	Short stature	HP:0040281	ORPHA:84
84464	SLX4	HP:0003022	Hypoplasia of the ulna	HP:0040283	ORPHA:84
84464	SLX4	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:84
84464	SLX4	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:84
84464	SLX4	HP:0012745	Short palpebral fissure	1/4	OMIM:613951
84464	SLX4	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:84
84464	SLX4	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:84
84464	SLX4	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:84
84464	SLX4	HP:0010293	Aplasia/Hypoplasia of the uvula	HP:0040283	ORPHA:84
84464	SLX4	HP:0040071	Abnormal morphology of ulna	HP:0040283	ORPHA:84
84464	SLX4	HP:0003220	Abnormality of chromosome stability	HP:0040281	ORPHA:84
84464	SLX4	HP:0003221	Chromosomal breakage induced by crosslinking agents	1/1	OMIM:613951
84464	SLX4	HP:0000957	Cafe-au-lait spot	1/4	OMIM:613951
84464	SLX4	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:84
84464	SLX4	HP:0000286	Epicanthus	HP:0040283	ORPHA:84
84464	SLX4	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:84
84464	SLX4	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:84
84464	SLX4	HP:0002827	Hip dislocation	HP:0040283	ORPHA:84
84464	SLX4	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:84
84464	SLX4	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:84
84464	SLX4	HP:0000252	Microcephaly	1/4	OMIM:613951
84464	SLX4	HP:0000252	Microcephaly	HP:0040282	ORPHA:84
84464	SLX4	HP:0012210	Abnormal renal morphology	HP:0040282	ORPHA:84
84464	SLX4	HP:0000218	High palate	HP:0040283	ORPHA:84
84464	SLX4	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:84
84464	SLX4	HP:0002860	Squamous cell carcinoma	HP:0040283	OMIM:613951
84464	SLX4	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:84
84464	SLX4	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:84
84464	SLX4	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:84
84464	SLX4	HP:0001510	Growth delay	4/4	OMIM:613951
84464	SLX4	HP:0001510	Growth delay	HP:0040283	ORPHA:84
84464	SLX4	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:84
84464	SLX4	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:84
84464	SLX4	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	ORPHA:84
84464	SLX4	HP:0000365	Hearing impairment	1/4	OMIM:613951
84464	SLX4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:84
84464	SLX4	HP:0000364	Hearing abnormality	HP:0040283	ORPHA:84
84464	SLX4	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:84
84464	SLX4	HP:0000340	Sloping forehead	HP:0040283	ORPHA:84
84464	SLX4	HP:0001679	Abnormal aortic morphology	HP:0040283	ORPHA:84
84464	SLX4	HP:0000347	Micrognathia	1/4	OMIM:613951
84464	SLX4	HP:0000347	Micrognathia	HP:0040283	ORPHA:84
84464	SLX4	HP:0000316	Hypertelorism	HP:0040283	ORPHA:84
84464	SLX4	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:84
84464	SLX4	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:84
84464	SLX4	HP:0002984	Hypoplasia of the radius	HP:0040283	OMIM:613951
84464	SLX4	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:84
84464	SLX4	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:84
84464	SLX4	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:84
84464	SLX4	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:84
84464	SLX4	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:84
84464	SLX4	HP:0000483	Astigmatism	HP:0040283	ORPHA:84
84464	SLX4	HP:0000486	Strabismus	HP:0040283	ORPHA:84
84464	SLX4	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:84
84464	SLX4	HP:0000492	Abnormal eyelid morphology	HP:0040283	ORPHA:84
84464	SLX4	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:84
84464	SLX4	HP:0001763	Pes planus	HP:0040283	ORPHA:84
84464	SLX4	HP:0000453	Choanal atresia	HP:0040283	ORPHA:84
84464	SLX4	HP:0000414	Bulbous nose	1/4	OMIM:613951
84464	SLX4	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:84
84464	SLX4	HP:0000518	Cataract	HP:0040283	ORPHA:84
84464	SLX4	HP:0000520	Proptosis	HP:0040283	ORPHA:84
84464	SLX4	HP:0001824	Weight loss	HP:0040283	ORPHA:84
84464	SLX4	HP:0000508	Ptosis	HP:0040283	ORPHA:84
84464	SLX4	HP:0000505	Visual impairment	HP:0040283	ORPHA:84
84464	SLX4	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:84
84464	SLX4	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:84
84464	SLX4	HP:0000581	Blepharophimosis	HP:0040283	OMIM:613951
84464	SLX4	HP:0000568	Microphthalmia	HP:0040283	ORPHA:84
84464	SLX4	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:84
84464	SLX4	HP:0001882	Decreased total leukocyte count	HP:0040281	ORPHA:84
84464	SLX4	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:84
84464	SLX4	HP:0001876	Pancytopenia	3/4	OMIM:613951
84466	MEGF10	HP:0003789	Minicore myopathy	1/1	OMIM:620249
84466	MEGF10	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	3/3	OMIM:620249
84466	MEGF10	HP:0002421	Poor head control	6/6	OMIM:614399
84466	MEGF10	HP:0003722	Neck flexor weakness	1/1	OMIM:620249
84466	MEGF10	HP:0003701	Proximal muscle weakness	4/4	OMIM:620249
84466	MEGF10	HP:0003713	Muscle fiber necrosis	1/7	OMIM:614399
84466	MEGF10	HP:0001270	Motor delay	-	OMIM:614399
84466	MEGF10	HP:0001270	Motor delay	0/2	OMIM:620249
84466	MEGF10	HP:0001288	Gait disturbance	1/1	OMIM:620249
84466	MEGF10	HP:0001284	Areflexia	6/8	OMIM:614399
84466	MEGF10	HP:0001284	Areflexia	1/1	OMIM:620249
84466	MEGF10	HP:0001250	Seizure	2/10	OMIM:614399
84466	MEGF10	HP:0001252	Hypotonia	10/10	OMIM:614399
84466	MEGF10	HP:0001252	Hypotonia	1/1	OMIM:620249
84466	MEGF10	HP:0001249	Intellectual disability	0/2	OMIM:620249
84466	MEGF10	HP:0001265	Hyporeflexia	-	OMIM:614399
84466	MEGF10	HP:0032341	Reduced forced vital capacity	1/1	OMIM:620249
84466	MEGF10	HP:0003805	Rimmed vacuoles	0/3	OMIM:620249
84466	MEGF10	HP:0000007	Autosomal recessive inheritance	-	OMIM:614399
84466	MEGF10	HP:0000007	Autosomal recessive inheritance	-	OMIM:620249
84466	MEGF10	HP:0001308	Tongue fasciculations	1/8	OMIM:614399
84466	MEGF10	HP:0002650	Scoliosis	8/9	OMIM:614399
84466	MEGF10	HP:0002650	Scoliosis	1/1	OMIM:620249
84466	MEGF10	HP:0001319	Neonatal hypotonia	-	OMIM:614399
84466	MEGF10	HP:0000175	Cleft palate	1/7	OMIM:614399
84466	MEGF10	HP:0000175	Cleft palate	2/4	OMIM:620249
84466	MEGF10	HP:0008936	Axial hypotonia	1/1	OMIM:620249
84466	MEGF10	HP:0002020	Gastroesophageal reflux	3/10	OMIM:614399
84466	MEGF10	HP:0003327	Axial muscle weakness	4/4	OMIM:620249
84466	MEGF10	HP:0002015	Dysphagia	10/10	OMIM:614399
84466	MEGF10	HP:0002015	Dysphagia	2/2	OMIM:620249
84466	MEGF10	HP:0003307	Hyperlordosis	1/1	OMIM:620249
84466	MEGF10	HP:0003323	Progressive muscle weakness	1/1	OMIM:620249
84466	MEGF10	HP:0003324	Generalized muscle weakness	1/1	OMIM:620249
84466	MEGF10	HP:0002098	Respiratory distress	10/10	OMIM:614399
84466	MEGF10	HP:0002093	Respiratory insufficiency	-	OMIM:614399
84466	MEGF10	HP:0002091	Restrictive ventilatory defect	-	OMIM:614399
84466	MEGF10	HP:0008180	Mildly elevated creatine kinase	4/4	OMIM:620249
84466	MEGF10	HP:0003458	EMG: myopathic abnormalities	6/7	OMIM:614399
84466	MEGF10	HP:0100490	Camptodactyly of finger	-	OMIM:614399
84466	MEGF10	HP:0003593	Infantile onset	4/4	OMIM:620249
84466	MEGF10	HP:0003577	Congenital onset	5/10	OMIM:614399
84466	MEGF10	HP:0003577	Congenital onset	1/1	OMIM:620249
84466	MEGF10	HP:0003551	Difficulty climbing stairs	1/1	OMIM:620249
84466	MEGF10	HP:0003557	Increased variability in muscle fiber diameter	6/7	OMIM:614399
84466	MEGF10	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:620249
84466	MEGF10	HP:0034671	Knee contracture	3/4	OMIM:620249
84466	MEGF10	HP:0010628	Facial palsy	6/9	OMIM:614399
84466	MEGF10	HP:0003690	Limb muscle weakness	2/2	OMIM:620249
84466	MEGF10	HP:0009055	Generalized limb muscle atrophy	1/1	OMIM:620249
84466	MEGF10	HP:0009046	Difficulty running	-	OMIM:614399
84466	MEGF10	HP:0000767	Pectus excavatum	-	OMIM:614399
84466	MEGF10	HP:0011463	Childhood onset	2/2	OMIM:620249
84466	MEGF10	HP:0011461	Fetal onset	5/10	OMIM:614399
84466	MEGF10	HP:0009110	Diaphragmatic eventration	6/9	OMIM:614399
84466	MEGF10	HP:0009113	Diaphragmatic weakness	-	OMIM:614399
84466	MEGF10	HP:0040081	Abnormal circulating creatine kinase concentration	1/1	OMIM:620249
84466	MEGF10	HP:0003236	Elevated circulating creatine kinase concentration	0/7	OMIM:614399
84466	MEGF10	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:620249
84466	MEGF10	HP:0003200	Ragged-red muscle fibers	0/3	OMIM:620249
84466	MEGF10	HP:0034391	Elbow contracture	1/1	OMIM:620249
84466	MEGF10	HP:0040131	Abnormal motor nerve conduction velocity	0/9	OMIM:614399
84466	MEGF10	HP:0100297	Increased endomysial connective tissue	3/3	OMIM:620249
84466	MEGF10	HP:0002878	Respiratory failure	8/10	OMIM:614399
84466	MEGF10	HP:0002878	Respiratory failure	2/2	OMIM:620249
84466	MEGF10	HP:0000218	High palate	3/7	OMIM:614399
84466	MEGF10	HP:0000218	High palate	1/1	OMIM:620249
84466	MEGF10	HP:0001558	Decreased fetal movement	5/9	OMIM:614399
84466	MEGF10	HP:0001508	Failure to thrive	-	OMIM:614399
84466	MEGF10	HP:0006597	Diaphragmatic paralysis	-	OMIM:614399
84466	MEGF10	HP:0006532	Recurrent pneumonia	1/1	OMIM:620249
84466	MEGF10	HP:0001611	Hypernasal speech	-	OMIM:614399
84466	MEGF10	HP:0001611	Hypernasal speech	4/4	OMIM:620249
84466	MEGF10	HP:0030319	Weakness of facial musculature	5/5	OMIM:620249
84466	MEGF10	HP:0000467	Neck muscle weakness	1/1	OMIM:620249
84466	MEGF10	HP:0001771	Achilles tendon contracture	3/4	OMIM:620249
84466	MEGF10	HP:0001762	Talipes equinovarus	-	OMIM:614399
84466	MEGF10	HP:0012548	Fatty replacement of skeletal muscle	4/4	OMIM:620249
84504	NKX6-2	HP:0002451	Limb dystonia	4/7	OMIM:617560
84504	NKX6-2	HP:0007256	Abnormal pyramidal sign	7/7	OMIM:617560
84504	NKX6-2	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:527497
84504	NKX6-2	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:527497
84504	NKX6-2	HP:0002415	Leukodystrophy	3/5	OMIM:617560
84504	NKX6-2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:527497
84504	NKX6-2	HP:0001272	Cerebellar atrophy	4/6	OMIM:617560
84504	NKX6-2	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:527497
84504	NKX6-2	HP:0001270	Motor delay	18/18	OMIM:617560
84504	NKX6-2	HP:0002599	Head titubation	HP:0040282	ORPHA:527497
84504	NKX6-2	HP:0002599	Head titubation	3/3	OMIM:617560
84504	NKX6-2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:527497
84504	NKX6-2	HP:0001250	Seizure	2/6	OMIM:617560
84504	NKX6-2	HP:0001250	Seizure	HP:0040283	ORPHA:527497
84504	NKX6-2	HP:0001252	Hypotonia	10/10	OMIM:617560
84504	NKX6-2	HP:0001251	Ataxia	5/5	OMIM:617560
84504	NKX6-2	HP:0001251	Ataxia	HP:0040281	ORPHA:527497
84504	NKX6-2	HP:0001249	Intellectual disability	HP:0040284	ORPHA:527497
84504	NKX6-2	HP:0001260	Dysarthria	3/7	OMIM:617560
84504	NKX6-2	HP:0001260	Dysarthria	HP:0040282	ORPHA:527497
84504	NKX6-2	HP:0001263	Global developmental delay	11/16	OMIM:617560
84504	NKX6-2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:527497
84504	NKX6-2	HP:0001257	Spasticity	16/16	OMIM:617560
84504	NKX6-2	HP:0002505	Loss of ambulation	5/7	OMIM:617560
84504	NKX6-2	HP:0025331	Upgaze palsy	3/3	OMIM:617560
84504	NKX6-2	HP:0001347	Hyperreflexia	9/9	OMIM:617560
84504	NKX6-2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:527497
84504	NKX6-2	HP:0001332	Dystonia	2/2	OMIM:617560
84504	NKX6-2	HP:0001332	Dystonia	HP:0040282	ORPHA:527497
84504	NKX6-2	HP:0033725	Thin corpus callosum	6/14	OMIM:617560
84504	NKX6-2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617560
84504	NKX6-2	HP:0033747	Abnormal exteroceptive sensation	0/7	OMIM:617560
84504	NKX6-2	HP:0002650	Scoliosis	2/3	OMIM:617560
84504	NKX6-2	HP:0002650	Scoliosis	HP:0040283	ORPHA:527497
84504	NKX6-2	HP:0002007	Frontal bossing	1/7	OMIM:617560
84504	NKX6-2	HP:0100543	Cognitive impairment	2/7	OMIM:617560
84504	NKX6-2	HP:0002078	Truncal ataxia	5/7	OMIM:617560
84504	NKX6-2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040284	ORPHA:527497
84504	NKX6-2	HP:0002070	Limb ataxia	-	OMIM:617560
84504	NKX6-2	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:527497
84504	NKX6-2	HP:0003429	CNS hypomyelination	HP:0040282	ORPHA:527497
84504	NKX6-2	HP:0003429	CNS hypomyelination	13/15	OMIM:617560
84504	NKX6-2	HP:0002191	Progressive spasticity	HP:0040282	ORPHA:527497
84504	NKX6-2	HP:0003593	Infantile onset	11/17	OMIM:617560
84504	NKX6-2	HP:0002376	Developmental regression	4/6	OMIM:617560
84504	NKX6-2	HP:0003676	Progressive	-	OMIM:617560
84504	NKX6-2	HP:0001007	Hirsutism	HP:0040283	ORPHA:527497
84504	NKX6-2	HP:0003623	Neonatal onset	1/10	OMIM:617560
84504	NKX6-2	HP:0003621	Juvenile onset	1/7	OMIM:617560
84504	NKX6-2	HP:0000639	Nystagmus	14/14	OMIM:617560
84504	NKX6-2	HP:0000639	Nystagmus	HP:0040281	ORPHA:527497
84504	NKX6-2	HP:0011344	Severe global developmental delay	2/7	OMIM:617560
84504	NKX6-2	HP:0000678	Dental crowding	2/7	OMIM:617560
84504	NKX6-2	HP:0000668	Hypodontia	1/7	OMIM:617560
84504	NKX6-2	HP:0000664	Synophrys	1/7	OMIM:617560
84504	NKX6-2	HP:0011463	Childhood onset	5/17	OMIM:617560
84504	NKX6-2	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040282	ORPHA:527497
84504	NKX6-2	HP:0034392	Joint contracture	4/5	OMIM:617560
84504	NKX6-2	HP:0007704	Paroxysmal involuntary eye movements	HP:0040282	ORPHA:527497
84504	NKX6-2	HP:0000276	Long face	2/7	OMIM:617560
84504	NKX6-2	HP:0000218	High palate	2/7	OMIM:617560
84504	NKX6-2	HP:0000212	Gingival overgrowth	2/7	OMIM:617560
84504	NKX6-2	HP:0007941	Limited extraocular movements	2/7	OMIM:617560
84504	NKX6-2	HP:0000486	Strabismus	HP:0040283	ORPHA:527497
84504	NKX6-2	HP:0012444	Brain atrophy	5/8	OMIM:617560
84504	NKX6-2	HP:0000473	Torticollis	3/7	OMIM:617560
84504	NKX6-2	HP:0000414	Bulbous nose	1/7	OMIM:617560
84504	NKX6-2	HP:0000571	Hypometric saccades	5/7	OMIM:617560
84504	NKX6-2	HP:0000571	Hypometric saccades	HP:0040281	ORPHA:527497
84504	NKX6-2	HP:0012534	Dysesthesia	-	ORPHA:527497
84515	MCM8	HP:0008734	Decreased testicular size	-	OMIM:612885
84515	MCM8	HP:0008724	Hypoplasia of the ovary	-	OMIM:612885
84515	MCM8	HP:0000027	Azoospermia	-	OMIM:612885
84515	MCM8	HP:0000007	Autosomal recessive inheritance	-	OMIM:612885
84515	MCM8	HP:0008232	Elevated circulating follicle stimulating hormone level	-	OMIM:612885
84515	MCM8	HP:0008209	Premature ovarian insufficiency	-	OMIM:612885
84515	MCM8	HP:0011969	Elevated circulating luteinizing hormone level	-	OMIM:612885
84515	MCM8	HP:0000786	Primary amenorrhea	-	OMIM:612885
84515	MCM8	HP:0000821	Hypothyroidism	-	OMIM:612885
84520	GON7	HP:0001181	Adducted thumb	HP:0040283	ORPHA:2065
84520	GON7	HP:0003774	Stage 5 chronic kidney disease	11/11	OMIM:619603
84520	GON7	HP:0002410	Aqueductal stenosis	HP:0040283	ORPHA:2065
84520	GON7	HP:0001276	Hypertonia	HP:0040283	ORPHA:2065
84520	GON7	HP:0001272	Cerebellar atrophy	9/9	OMIM:619603
84520	GON7	HP:0001250	Seizure	HP:0040282	ORPHA:2065
84520	GON7	HP:0001252	Hypotonia	HP:0040283	ORPHA:2065
84520	GON7	HP:0001266	Choreoathetosis	1/11	OMIM:619603
84520	GON7	HP:0001263	Global developmental delay	11/11	OMIM:619603
84520	GON7	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2065
84520	GON7	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:2065
84520	GON7	HP:0000097	Focal segmental glomerulosclerosis	3/6	OMIM:619603
84520	GON7	HP:0000093	Proteinuria	HP:0040281	ORPHA:2065
84520	GON7	HP:0033725	Thin corpus callosum	5/9	OMIM:619603
84520	GON7	HP:0000007	Autosomal recessive inheritance	-	OMIM:619603
84520	GON7	HP:0001302	Pachygyria	HP:0040282	ORPHA:2065
84520	GON7	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:2065
84520	GON7	HP:0000100	Nephrotic syndrome	HP:0040281	ORPHA:2065
84520	GON7	HP:0000112	Nephropathy	HP:0040281	ORPHA:2065
84520	GON7	HP:0002020	Gastroesophageal reflux	3/11	OMIM:619603
84520	GON7	HP:0002036	Hiatus hernia	3/11	OMIM:619603
84520	GON7	HP:0002036	Hiatus hernia	HP:0040282	ORPHA:2065
84520	GON7	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:2065
84520	GON7	HP:0002120	Cerebral cortical atrophy	9/9	OMIM:619603
84520	GON7	HP:0002119	Ventriculomegaly	5/9	OMIM:619603
84520	GON7	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2065
84520	GON7	HP:0003593	Infantile onset	7/11	OMIM:619603
84520	GON7	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:2065
84520	GON7	HP:0002208	Coarse hair	2/8	OMIM:619603
84520	GON7	HP:0100720	Hypoplasia of the ear cartilage	HP:0040281	ORPHA:2065
84520	GON7	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2065
84520	GON7	HP:0001967	Diffuse mesangial sclerosis	3/6	OMIM:619603
84520	GON7	HP:0000601	Hypotelorism	2/8	OMIM:619603
84520	GON7	HP:0000601	Hypotelorism	HP:0040283	ORPHA:2065
84520	GON7	HP:0004322	Short stature	HP:0040282	ORPHA:2065
84520	GON7	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:2065
84520	GON7	HP:0011463	Childhood onset	4/11	OMIM:619603
84520	GON7	HP:0005108	Abnormal intervertebral disk morphology	HP:0040283	ORPHA:2065
84520	GON7	HP:0000252	Microcephaly	11/11	OMIM:619603
84520	GON7	HP:0000252	Microcephaly	HP:0040281	ORPHA:2065
84520	GON7	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2065
84520	GON7	HP:0007874	Almond-shaped palpebral fissure	3/8	OMIM:619603
84520	GON7	HP:0000369	Low-set ears	3/8	OMIM:619603
84520	GON7	HP:0000341	Narrow forehead	3/8	OMIM:619603
84520	GON7	HP:0000347	Micrognathia	HP:0040283	ORPHA:2065
84520	GON7	HP:0000316	Hypertelorism	1/8	OMIM:619603
84520	GON7	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2065
84520	GON7	HP:0001622	Premature birth	HP:0040282	ORPHA:2065
84520	GON7	HP:0000400	Macrotia	3/8	OMIM:619603
84520	GON7	HP:0000400	Macrotia	HP:0040282	ORPHA:2065
84520	GON7	HP:0005484	Secondary microcephaly	10/11	OMIM:619603
84522	JAGN1	HP:0033606	Bone marrow maturation arrest	13/14	OMIM:616022
84522	JAGN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616022
84522	JAGN1	HP:0002718	Recurrent bacterial infections	-	OMIM:616022
84522	JAGN1	HP:0003593	Infantile onset	-	OMIM:616022
84522	JAGN1	HP:0002205	Recurrent respiratory infections	-	OMIM:616022
84522	JAGN1	HP:0004322	Short stature	2/14	OMIM:616022
84522	JAGN1	HP:0001508	Failure to thrive	1/14	OMIM:616022
84522	JAGN1	HP:0000403	Recurrent otitis media	-	OMIM:616022
84522	JAGN1	HP:0001875	Decreased total neutrophil count	12/12	OMIM:616022
84529	CDIN1	HP:0001159	Syndactyly	HP:0040283	OMIM:615631
84529	CDIN1	HP:0010972	Anemia of inadequate production	3/3	OMIM:615631
84529	CDIN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615631
84529	CDIN1	HP:0012132	Erythroid hyperplasia	-	OMIM:615631
84529	CDIN1	HP:0002240	Hepatomegaly	-	OMIM:615631
84529	CDIN1	HP:0001923	Reticulocytosis	-	OMIM:615631
84529	CDIN1	HP:0001903	Anemia	-	OMIM:615631
84529	CDIN1	HP:0004322	Short stature	HP:0040283	OMIM:615631
84529	CDIN1	HP:0004447	Poikilocytosis	-	OMIM:615631
84529	CDIN1	HP:0034278	Multinucleated erythroblast	3/3	OMIM:615631
84529	CDIN1	HP:0000980	Pallor	-	OMIM:615631
84529	CDIN1	HP:0000952	Jaundice	-	OMIM:615631
84529	CDIN1	HP:0001510	Growth delay	-	OMIM:615631
84529	CDIN1	HP:0001792	Small nail	HP:0040283	OMIM:615631
84529	CDIN1	HP:0001744	Splenomegaly	-	OMIM:615631
84529	CDIN1	HP:0011273	Anisocytosis	-	OMIM:615631
84548	TMEM185A	HP:0000118	Phenotypic abnormality	HP:0040284	ORPHA:100974
84548	TMEM185A	HP:0003564	Folate-dependent fragile site at Xq28	HP:0040281	ORPHA:100974
84548	TMEM185A	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:100974
84570	COL25A1	HP:0025186	Marcus Gunn jaw winking synkinesis	HP:0040283	ORPHA:45358
84570	COL25A1	HP:0009916	Anisocoria	HP:0040283	ORPHA:45358
84570	COL25A1	HP:0009921	Duane anomaly	1/3	OMIM:616219
84570	COL25A1	HP:0001284	Areflexia	HP:0040282	ORPHA:1143
84570	COL25A1	HP:0001252	Hypotonia	HP:0040283	ORPHA:45358
84570	COL25A1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:45358
84570	COL25A1	HP:0001239	Wrist flexion contracture	HP:0040282	ORPHA:1143
84570	COL25A1	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:1143
84570	COL25A1	HP:6000709	Absent Bell phenomenon	HP:0040281	ORPHA:45358
84570	COL25A1	HP:0008807	Acetabular dysplasia	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:45358
84570	COL25A1	HP:0001371	Flexion contracture	HP:0040280	ORPHA:1143
84570	COL25A1	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:45358
84570	COL25A1	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0025309	Abnormal pupil shape	HP:0040282	ORPHA:45358
84570	COL25A1	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616219
84570	COL25A1	HP:0002650	Scoliosis	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0032466	Aplasia of the olfactory bulb	HP:0040283	ORPHA:45358
84570	COL25A1	HP:0001491	Congenital fibrosis of extraocular muscles	HP:0040281	ORPHA:45358
84570	COL25A1	HP:0001477	Compensatory chin elevation	HP:0040282	ORPHA:45358
84570	COL25A1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0002013	Vomiting	HP:0040283	ORPHA:45358
84570	COL25A1	HP:0002098	Respiratory distress	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0002058	Myopathic facies	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0008110	Equinovarus deformity	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:1143
84570	COL25A1	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:1143
84570	COL25A1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:45358
84570	COL25A1	HP:0003444	EMG: chronic denervation signs	HP:0040281	ORPHA:1143
84570	COL25A1	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:45358
84570	COL25A1	HP:0003577	Congenital onset	3/3	OMIM:616219
84570	COL25A1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0002380	Fasciculations	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:45358
84570	COL25A1	HP:0010781	Skin dimple	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0030534	Abnormal best corrected visual acuity test	HP:0040281	ORPHA:45358
84570	COL25A1	HP:0000646	Amblyopia	HP:0040282	ORPHA:45358
84570	COL25A1	HP:0000616	Miosis	HP:0040282	ORPHA:45358
84570	COL25A1	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:45358
84570	COL25A1	HP:0011347	Abnormality of ocular abduction	HP:0040281	ORPHA:45358
84570	COL25A1	HP:0030588	Abnormal visual field test	HP:0040282	ORPHA:45358
84570	COL25A1	HP:0030799	Scaphocephaly	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:1143
84570	COL25A1	HP:0003273	Hip contracture	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0009380	Finger aplasia	HP:0040283	ORPHA:45358
84570	COL25A1	HP:0012241	Levator palpebrae superioris atrophy	HP:0040281	ORPHA:45358
84570	COL25A1	HP:0006466	Ankle flexion contracture	HP:0040282	ORPHA:1143
84570	COL25A1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0006380	Knee flexion contracture	HP:0040282	ORPHA:1143
84570	COL25A1	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	HP:0040282	ORPHA:45358
84570	COL25A1	HP:0000347	Micrognathia	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0002987	Elbow flexion contracture	HP:0040282	ORPHA:1143
84570	COL25A1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0001623	Breech presentation	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0000486	Strabismus	HP:0040281	ORPHA:45358
84570	COL25A1	HP:0030211	Slow pupillary light response	HP:0040281	ORPHA:45358
84570	COL25A1	HP:0000473	Torticollis	HP:0040283	ORPHA:45358
84570	COL25A1	HP:0025721	Limited vertical extraocular movement	HP:0040281	ORPHA:45358
84570	COL25A1	HP:0000518	Cataract	HP:0040283	ORPHA:45358
84570	COL25A1	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:45358
84570	COL25A1	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:1143
84570	COL25A1	HP:0000508	Ptosis	HP:0040281	ORPHA:45358
84570	COL25A1	HP:0000508	Ptosis	2/3	OMIM:616219
84570	COL25A1	HP:0000577	Exotropia	HP:0040281	ORPHA:45358
84570	COL25A1	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:45358
84570	COL25A1	HP:0000565	Esotropia	HP:0040283	ORPHA:45358
84570	COL25A1	HP:0000539	Abnormality of refraction	HP:0040282	ORPHA:45358
84570	COL25A1	HP:0000542	Impaired ocular adduction	HP:0040281	ORPHA:45358
84572	GNPTG	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
84572	GNPTG	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
84572	GNPTG	HP:0001293	Cranial nerve compression	-	OMIM:131300
84572	GNPTG	HP:0001256	Intellectual disability, mild	-	OMIM:252605
84572	GNPTG	HP:0001252	Hypotonia	2/7	OMIM:615777
84572	GNPTG	HP:0001249	Intellectual disability	0/3	OMIM:252605
84572	GNPTG	HP:0001249	Intellectual disability	5/7	OMIM:615777
84572	GNPTG	HP:0001263	Global developmental delay	-	OMIM:615777
84572	GNPTG	HP:0002515	Waddling gait	54/102	OMIM:131300
84572	GNPTG	HP:0001387	Joint stiffness	3/3	OMIM:252605
84572	GNPTG	HP:0001382	Joint hypermobility	-	OMIM:615777
84572	GNPTG	HP:0002694	Sclerosis of skull base	-	OMIM:131300
84572	GNPTG	HP:0008897	Postnatal growth retardation	-	OMIM:615777
84572	GNPTG	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
84572	GNPTG	HP:0001324	Muscle weakness	40/96	OMIM:131300
84572	GNPTG	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
84572	GNPTG	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
84572	GNPTG	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
84572	GNPTG	HP:0000007	Autosomal recessive inheritance	-	OMIM:252605
84572	GNPTG	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
84572	GNPTG	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
84572	GNPTG	HP:0002650	Scoliosis	-	OMIM:252605
84572	GNPTG	HP:0002650	Scoliosis	12/14	OMIM:131300
84572	GNPTG	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
84572	GNPTG	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
84572	GNPTG	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
84572	GNPTG	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
84572	GNPTG	HP:0000175	Cleft palate	2/7	OMIM:615777
84572	GNPTG	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
84572	GNPTG	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
84572	GNPTG	HP:0003333	Increased serum beta-hexosaminidase	-	OMIM:252605
84572	GNPTG	HP:0003307	Hyperlordosis	3/3	OMIM:252605
84572	GNPTG	HP:0003370	Flat capital femoral epiphysis	1/1	OMIM:252605
84572	GNPTG	HP:0003388	Easy fatigability	36/76	OMIM:131300
84572	GNPTG	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
84572	GNPTG	HP:0008155	Mucopolysacchariduria	0/3	OMIM:252605
84572	GNPTG	HP:0003538	Increased iduronate sulfatase level	-	OMIM:252605
84572	GNPTG	HP:0034665	Shoulder contracture	3/3	OMIM:252605
84572	GNPTG	HP:0034681	Finger joint contracture	3/3	OMIM:252605
84572	GNPTG	HP:0003510	Severe short stature	7/7	OMIM:615777
84572	GNPTG	HP:0002315	Headache	-	OMIM:131300
84572	GNPTG	HP:0004976	Knee dislocation	6/7	OMIM:615777
84572	GNPTG	HP:0009803	Short phalanx of finger	-	OMIM:615777
84572	GNPTG	HP:0009763	Limb pain	63/92	OMIM:131300
84572	GNPTG	HP:0003621	Juvenile onset	8/19	OMIM:180100
84572	GNPTG	HP:0003621	Juvenile onset	3/3	OMIM:252605
84572	GNPTG	HP:0003621	Juvenile onset	-	OMIM:131300
84572	GNPTG	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
84572	GNPTG	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
84572	GNPTG	HP:6001056	Out-toeing	-	OMIM:131300
84572	GNPTG	HP:0000651	Diplopia	-	OMIM:131300
84572	GNPTG	HP:0001956	Truncal obesity	2/7	OMIM:615777
84572	GNPTG	HP:0001903	Anemia	HP:0040283	OMIM:131300
84572	GNPTG	HP:0010049	Short metacarpal	-	OMIM:615777
84572	GNPTG	HP:0000678	Dental crowding	-	OMIM:615777
84572	GNPTG	HP:0000662	Nyctalopia	26/28	OMIM:180100
84572	GNPTG	HP:0000670	Carious teeth	-	OMIM:131300
84572	GNPTG	HP:0011304	Broad thumb	2/7	OMIM:615777
84572	GNPTG	HP:0000668	Hypodontia	-	OMIM:615777
84572	GNPTG	HP:0000664	Synophrys	-	OMIM:615777
84572	GNPTG	HP:0004322	Short stature	2/3	OMIM:252605
84572	GNPTG	HP:0004396	Poor appetite	-	OMIM:131300
84572	GNPTG	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
84572	GNPTG	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
84572	GNPTG	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
84572	GNPTG	HP:0003026	Short long bone	7/7	OMIM:615777
84572	GNPTG	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
84572	GNPTG	HP:0000767	Pectus excavatum	2/7	OMIM:615777
84572	GNPTG	HP:0000768	Pectus carinatum	-	OMIM:252605
84572	GNPTG	HP:0000768	Pectus carinatum	1/7	OMIM:615777
84572	GNPTG	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
84572	GNPTG	HP:0000750	Delayed speech and language development	-	OMIM:615777
84572	GNPTG	HP:0011463	Childhood onset	3/19	OMIM:180100
84572	GNPTG	HP:0011462	Young adult onset	8/19	OMIM:180100
84572	GNPTG	HP:0011461	Fetal onset	7/7	OMIM:615777
84572	GNPTG	HP:0000774	Narrow chest	2/7	OMIM:615777
84572	GNPTG	HP:0000926	Platyspondyly	1/7	OMIM:615777
84572	GNPTG	HP:0003180	Flat acetabular roof	-	OMIM:615777
84572	GNPTG	HP:0004482	Relative macrocephaly	-	OMIM:615777
84572	GNPTG	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
84572	GNPTG	HP:0000823	Delayed puberty	-	OMIM:131300
84572	GNPTG	HP:0000894	Short clavicles	-	OMIM:615777
84572	GNPTG	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
84572	GNPTG	HP:0034337	Claw hand deformity	1/1	OMIM:252605
84572	GNPTG	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
84572	GNPTG	HP:0000943	Dysostosis multiplex	-	OMIM:252605
84572	GNPTG	HP:0000286	Epicanthus	1/7	OMIM:615777
84572	GNPTG	HP:0000280	Coarse facial features	0/3	OMIM:252605
84572	GNPTG	HP:0000280	Coarse facial features	2/7	OMIM:615777
84572	GNPTG	HP:0007759	Opacification of the corneal stroma	-	OMIM:252605
84572	GNPTG	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
84572	GNPTG	HP:0002829	Arthralgia	3/3	OMIM:252605
84572	GNPTG	HP:0002827	Hip dislocation	3/7	OMIM:615777
84572	GNPTG	HP:0002808	Kyphosis	-	OMIM:252605
84572	GNPTG	HP:0000252	Microcephaly	-	OMIM:615777
84572	GNPTG	HP:0002857	Genu valgum	3/3	OMIM:252605
84572	GNPTG	HP:0002857	Genu valgum	-	OMIM:131300
84572	GNPTG	HP:0002869	Flared iliac wing	-	OMIM:252605
84572	GNPTG	HP:0001533	Slender build	-	OMIM:131300
84572	GNPTG	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
84572	GNPTG	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
84572	GNPTG	HP:0007807	Optic nerve compression	-	OMIM:131300
84572	GNPTG	HP:0012368	Flat face	7/7	OMIM:615777
84572	GNPTG	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
84572	GNPTG	HP:0000365	Hearing impairment	10/67	OMIM:131300
84572	GNPTG	HP:0000343	Long philtrum	1/7	OMIM:615777
84572	GNPTG	HP:0011001	Increased bone mineral density	-	OMIM:131300
84572	GNPTG	HP:0001650	Aortic valve stenosis	-	OMIM:252605
84572	GNPTG	HP:0000311	Round face	2/7	OMIM:615777
84572	GNPTG	HP:0001659	Aortic regurgitation	-	OMIM:252605
84572	GNPTG	HP:0002970	Genu varum	-	OMIM:615777
84572	GNPTG	HP:0000303	Mandibular prognathia	-	OMIM:131300
84572	GNPTG	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
84572	GNPTG	HP:0000470	Short neck	3/3	OMIM:252605
84572	GNPTG	HP:0000470	Short neck	1/7	OMIM:615777
84572	GNPTG	HP:0001769	Broad foot	HP:0040283	OMIM:615777
84572	GNPTG	HP:0001763	Pes planus	3/3	OMIM:252605
84572	GNPTG	HP:0001763	Pes planus	1/7	OMIM:615777
84572	GNPTG	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
84572	GNPTG	HP:0001840	Metatarsus adductus	-	OMIM:615777
84572	GNPTG	HP:0000520	Proptosis	2/4	OMIM:131300
84572	GNPTG	HP:0000520	Proptosis	7/7	OMIM:615777
84572	GNPTG	HP:0000575	Scotoma	5/18	OMIM:180100
84572	GNPTG	HP:0000592	Blue sclerae	2/7	OMIM:615777
84572	GNPTG	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
84572	GNPTG	HP:0012514	Lower limb pain	4/4	OMIM:131300
84572	GNPTG	HP:0000543	Optic disc pallor	1/1	OMIM:180100
84572	GNPTG	HP:0000545	Myopia	3/3	OMIM:252605
84572	GNPTG	HP:0000545	Myopia	-	OMIM:180100
84617	TUBB6	HP:0410263	Brain imaging abnormality	0/3	OMIM:617732
84617	TUBB6	HP:0000006	Autosomal dominant inheritance	-	OMIM:617732
84617	TUBB6	HP:0002015	Dysphagia	1/7	OMIM:617732
84617	TUBB6	HP:0003593	Infantile onset	-	OMIM:617732
84617	TUBB6	HP:0010628	Facial palsy	11/12	OMIM:617732
84617	TUBB6	HP:0003680	Nonprogressive	-	OMIM:617732
84617	TUBB6	HP:0011469	Nasal regurgitation	5/7	OMIM:617732
84617	TUBB6	HP:0000220	Velopharyngeal insufficiency	-	OMIM:617732
84617	TUBB6	HP:0001611	Hypernasal speech	11/11	OMIM:617732
84617	TUBB6	HP:0000508	Ptosis	11/14	OMIM:617732
84627	ZNF469	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:90354
84627	ZNF469	HP:0001131	Corneal dystrophy	HP:0040281	ORPHA:90354
84627	ZNF469	HP:0001119	Keratoglobus	HP:0040281	ORPHA:90354
84627	ZNF469	HP:0001119	Keratoglobus	-	OMIM:229200
84627	ZNF469	HP:0009887	Abnormality of hair pigmentation	HP:0040282	ORPHA:90354
84627	ZNF469	HP:0001288	Gait disturbance	HP:0040282	ORPHA:90354
84627	ZNF469	HP:0001374	Congenital hip dislocation	-	OMIM:229200
84627	ZNF469	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:90354
84627	ZNF469	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:90354
84627	ZNF469	HP:0001382	Joint hypermobility	-	OMIM:229200
84627	ZNF469	HP:0007517	Palmoplantar cutis laxa	-	OMIM:229200
84627	ZNF469	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:90354
84627	ZNF469	HP:0000007	Autosomal recessive inheritance	-	OMIM:229200
84627	ZNF469	HP:0002650	Scoliosis	-	OMIM:229200
84627	ZNF469	HP:0002650	Scoliosis	HP:0040283	ORPHA:90354
84627	ZNF469	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:90354
84627	ZNF469	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:90354
84627	ZNF469	HP:0000175	Cleft palate	HP:0040283	ORPHA:90354
84627	ZNF469	HP:0003326	Myalgia	HP:0040282	ORPHA:90354
84627	ZNF469	HP:0003302	Spondylolisthesis	-	OMIM:229200
84627	ZNF469	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:90354
84627	ZNF469	HP:0100790	Hernia	HP:0040283	ORPHA:90354
84627	ZNF469	HP:0002297	Red hair	-	OMIM:229200
84627	ZNF469	HP:0200020	Corneal erosion	HP:0040283	ORPHA:90354
84627	ZNF469	HP:0100689	Decreased corneal thickness	HP:0040281	ORPHA:90354
84627	ZNF469	HP:0100689	Decreased corneal thickness	-	OMIM:229200
84627	ZNF469	HP:0000703	Dentinogenesis imperfecta	-	OMIM:229200
84627	ZNF469	HP:0000993	Molluscoid pseudotumors	-	OMIM:229200
84627	ZNF469	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:90354
84627	ZNF469	HP:0000977	Soft skin	HP:0040281	ORPHA:90354
84627	ZNF469	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:90354
84627	ZNF469	HP:0000987	Atypical scarring of skin	-	OMIM:229200
84627	ZNF469	HP:0000939	Osteoporosis	HP:0040282	ORPHA:90354
84627	ZNF469	HP:0000286	Epicanthus	-	OMIM:229200
84627	ZNF469	HP:0000256	Macrocephaly	-	OMIM:229200
84627	ZNF469	HP:0001519	Disproportionate tall stature	-	OMIM:229200
84627	ZNF469	HP:0012385	Camptodactyly	HP:0040283	ORPHA:90354
84627	ZNF469	HP:0000365	Hearing impairment	-	OMIM:229200
84627	ZNF469	HP:0011003	High myopia	HP:0040281	ORPHA:90354
84627	ZNF469	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:90354
84627	ZNF469	HP:0001634	Mitral valve prolapse	-	OMIM:229200
84627	ZNF469	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:90354
84627	ZNF469	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:90354
84627	ZNF469	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:90354
84627	ZNF469	HP:0000481	Abnormal cornea morphology	-	OMIM:229200
84627	ZNF469	HP:0001763	Pes planus	HP:0040283	ORPHA:90354
84627	ZNF469	HP:0001822	Hallux valgus	HP:0040283	ORPHA:90354
84627	ZNF469	HP:0000501	Glaucoma	HP:0040283	ORPHA:90354
84627	ZNF469	HP:0000592	Blue sclerae	-	OMIM:229200
84627	ZNF469	HP:0000592	Blue sclerae	HP:0040282	ORPHA:90354
84627	ZNF469	HP:0000563	Keratoconus	-	OMIM:229200
84627	ZNF469	HP:0000559	Corneal scarring	HP:0040282	ORPHA:90354
84627	ZNF469	HP:0000572	Visual loss	-	OMIM:229200
84627	ZNF469	HP:0000572	Visual loss	HP:0040282	ORPHA:90354
84627	ZNF469	HP:0000541	Retinal detachment	HP:0040283	ORPHA:90354
84627	ZNF469	HP:0000545	Myopia	-	OMIM:229200
84628	NTNG2	HP:0003763	Bruxism	7/15	OMIM:618718
84628	NTNG2	HP:0001270	Motor delay	16/16	OMIM:618718
84628	NTNG2	HP:0001250	Seizure	5/16	OMIM:618718
84628	NTNG2	HP:0001249	Intellectual disability	-	OMIM:618718
84628	NTNG2	HP:0001263	Global developmental delay	16/16	OMIM:618718
84628	NTNG2	HP:0001257	Spasticity	6/16	OMIM:618718
84628	NTNG2	HP:0002540	Inability to walk	12/15	OMIM:618718
84628	NTNG2	HP:0001324	Muscle weakness	9/16	OMIM:618718
84628	NTNG2	HP:0001344	Absent speech	11/16	OMIM:618718
84628	NTNG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618718
84628	NTNG2	HP:0001337	Tremor	2/16	OMIM:618718
84628	NTNG2	HP:0008947	Floppy infant	14/16	OMIM:618718
84628	NTNG2	HP:0002714	Downturned corners of mouth	2/16	OMIM:618718
84628	NTNG2	HP:0002007	Frontal bossing	2/16	OMIM:618718
84628	NTNG2	HP:0100716	Self-injurious behavior	7/16	OMIM:618718
84628	NTNG2	HP:0002376	Developmental regression	14/16	OMIM:618718
84628	NTNG2	HP:0002353	EEG abnormality	6/10	OMIM:618718
84628	NTNG2	HP:0002307	Drooling	3/16	OMIM:618718
84628	NTNG2	HP:0000639	Nystagmus	1/16	OMIM:618718
84628	NTNG2	HP:0000601	Hypotelorism	3/16	OMIM:618718
84628	NTNG2	HP:0000752	Hyperactivity	7/16	OMIM:618718
84628	NTNG2	HP:0000733	Motor stereotypy	-	OMIM:618718
84628	NTNG2	HP:0000750	Delayed speech and language development	15/15	OMIM:618718
84628	NTNG2	HP:0000749	Paroxysmal bursts of laughter	13/15	OMIM:618718
84628	NTNG2	HP:0000729	Autistic behavior	13/15	OMIM:618718
84628	NTNG2	HP:0000252	Microcephaly	5/14	OMIM:618718
84628	NTNG2	HP:0000369	Low-set ears	2/16	OMIM:618718
84628	NTNG2	HP:0012444	Brain atrophy	4/8	OMIM:618718
84628	NTNG2	HP:0000565	Esotropia	1/16	OMIM:618718
84631	SLITRK2	HP:0410170	Hippocampal atrophy	1/6	OMIM:301107
84631	SLITRK2	HP:0001250	Seizure	3/8	OMIM:301107
84631	SLITRK2	HP:0001249	Intellectual disability	8/8	OMIM:301107
84631	SLITRK2	HP:0001263	Global developmental delay	8/8	OMIM:301107
84631	SLITRK2	HP:0001257	Spasticity	2/8	OMIM:301107
84631	SLITRK2	HP:0007371	Corpus callosum atrophy	1/6	OMIM:301107
84631	SLITRK2	HP:0001332	Dystonia	1/8	OMIM:301107
84631	SLITRK2	HP:0033725	Thin corpus callosum	1/6	OMIM:301107
84631	SLITRK2	HP:0001344	Absent speech	1/8	OMIM:301107
84631	SLITRK2	HP:0002751	Kyphoscoliosis	4/8	OMIM:301107
84631	SLITRK2	HP:0001417	X-linked inheritance	-	OMIM:301107
84631	SLITRK2	HP:0002119	Ventriculomegaly	1/6	OMIM:301107
84631	SLITRK2	HP:0003593	Infantile onset	-	OMIM:301107
84631	SLITRK2	HP:0011968	Feeding difficulties	4/8	OMIM:301107
84631	SLITRK2	HP:0002317	Unsteady gait	4/6	OMIM:301107
84631	SLITRK2	HP:0000752	Hyperactivity	2/8	OMIM:301107
84631	SLITRK2	HP:0100021	Cerebral palsy	1/8	OMIM:301107
84631	SLITRK2	HP:0100035	Phonic tics	1/8	OMIM:301107
84631	SLITRK2	HP:0000739	Anxiety	7/8	OMIM:301107
84631	SLITRK2	HP:0000750	Delayed speech and language development	5/8	OMIM:301107
84631	SLITRK2	HP:0000718	Aggressive behavior	2/8	OMIM:301107
84631	SLITRK2	HP:0000729	Autistic behavior	4/8	OMIM:301107
84631	SLITRK2	HP:0000722	Compulsive behaviors	1/8	OMIM:301107
84631	SLITRK2	HP:0034295	Reduced cerebral white matter volume	3/6	OMIM:301107
84634	KISS1R	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:432
84634	KISS1R	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:432
84634	KISS1R	HP:0008734	Decreased testicular size	-	OMIM:614837
84634	KISS1R	HP:0008734	Decreased testicular size	1/1	OMIM:146110
84634	KISS1R	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:432
84634	KISS1R	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:432
84634	KISS1R	HP:0000044	Hypogonadotropic hypogonadism	6/6	OMIM:614837
84634	KISS1R	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
84634	KISS1R	HP:0000054	Micropenis	-	OMIM:614837
84634	KISS1R	HP:0000054	Micropenis	1/1	OMIM:146110
84634	KISS1R	HP:0000054	Micropenis	HP:0040281	ORPHA:432
84634	KISS1R	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:432
84634	KISS1R	HP:0000028	Cryptorchidism	-	OMIM:146110
84634	KISS1R	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:432
84634	KISS1R	HP:0000028	Cryptorchidism	-	OMIM:614837
84634	KISS1R	HP:0000027	Azoospermia	HP:0040281	ORPHA:432
84634	KISS1R	HP:0000027	Azoospermia	-	OMIM:614837
84634	KISS1R	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:432
84634	KISS1R	HP:0000013	Hypoplasia of the uterus	HP:0040282	ORPHA:432
84634	KISS1R	HP:0000013	Hypoplasia of the uterus	-	OMIM:614837
84634	KISS1R	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
84634	KISS1R	HP:0000007	Autosomal recessive inheritance	-	OMIM:614837
84634	KISS1R	HP:0000006	Autosomal dominant inheritance	-	OMIM:176400
84634	KISS1R	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:432
84634	KISS1R	HP:0000175	Cleft palate	HP:0040283	ORPHA:432
84634	KISS1R	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:432
84634	KISS1R	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:432
84634	KISS1R	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:432
84634	KISS1R	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:432
84634	KISS1R	HP:0002750	Delayed skeletal maturation	-	OMIM:614837
84634	KISS1R	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:432
84634	KISS1R	HP:0008197	Absence of pubertal development	6/6	OMIM:614837
84634	KISS1R	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:432
84634	KISS1R	HP:0008232	Elevated circulating follicle stimulating hormone level	-	OMIM:176400
84634	KISS1R	HP:0008236	Isosexual precocious puberty	-	OMIM:176400
84634	KISS1R	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
84634	KISS1R	HP:0002231	Sparse body hair	HP:0040281	ORPHA:432
84634	KISS1R	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
84634	KISS1R	HP:0011969	Elevated circulating luteinizing hormone level	-	OMIM:176400
84634	KISS1R	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:432
84634	KISS1R	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:432
84634	KISS1R	HP:0003621	Juvenile onset	2/2	OMIM:146110
84634	KISS1R	HP:0003621	Juvenile onset	6/6	OMIM:614837
84634	KISS1R	HP:0004322	Short stature	-	OMIM:176400
84634	KISS1R	HP:0000802	Impotence	HP:0040281	ORPHA:432
84634	KISS1R	HP:0000771	Gynecomastia	HP:0040282	ORPHA:432
84634	KISS1R	HP:0000771	Gynecomastia	-	OMIM:614837
84634	KISS1R	HP:0000771	Gynecomastia	0/1	OMIM:146110
84634	KISS1R	HP:0000739	Anxiety	HP:0040282	ORPHA:432
84634	KISS1R	HP:0000716	Depression	HP:0040282	ORPHA:432
84634	KISS1R	HP:0000789	Infertility	HP:0040283	OMIM:146110
84634	KISS1R	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:432
84634	KISS1R	HP:0000786	Primary amenorrhea	-	OMIM:614837
84634	KISS1R	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
84634	KISS1R	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
84634	KISS1R	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:432
84634	KISS1R	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:432
84634	KISS1R	HP:0000821	Hypothyroidism	HP:0040283	OMIM:176400
84634	KISS1R	HP:0000823	Delayed puberty	HP:0040282	ORPHA:432
84634	KISS1R	HP:0000939	Osteoporosis	HP:0040282	ORPHA:432
84634	KISS1R	HP:0000938	Osteopenia	-	OMIM:614837
84634	KISS1R	HP:0000938	Osteopenia	HP:0040282	ORPHA:432
84634	KISS1R	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:432
84634	KISS1R	HP:0030019	Increased female libido	HP:0040281	ORPHA:432
84634	KISS1R	HP:0012385	Camptodactyly	HP:0040283	ORPHA:432
84634	KISS1R	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:432
84634	KISS1R	HP:0000316	Hypertelorism	HP:0040283	ORPHA:432
84634	KISS1R	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:432
84634	KISS1R	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:432
84634	KISS1R	HP:0000458	Anosmia	HP:0040283	OMIM:614837
84634	KISS1R	HP:0030344	Decreased circulating luteinizing hormone level	6/6	OMIM:614837
84634	KISS1R	HP:0030341	Decreased circulating follicle stimulating hormone concentration	6/6	OMIM:614837
84656	GLYR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
84656	GLYR1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
84656	GLYR1	HP:0004467	Preauricular pit	-	OMIM:187500
84656	GLYR1	HP:0000337	Broad forehead	-	OMIM:187500
84656	GLYR1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
84656	GLYR1	HP:0000520	Proptosis	-	OMIM:187500
84660	CCDC62	HP:0000007	Autosomal recessive inheritance	-	OMIM:619803
84660	CCDC62	HP:0011462	Young adult onset	1/1	OMIM:619803
84660	CCDC62	HP:0003251	Male infertility	1/1	OMIM:619803
84660	CCDC62	HP:0012205	Globozoospermia	1/1	OMIM:619803
84662	GLIS2	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:611498
84662	GLIS2	HP:0000090	Nephronophthisis	-	OMIM:611498
84662	GLIS2	HP:0000092	Renal tubular atrophy	-	OMIM:611498
84662	GLIS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:611498
84665	MYPN	HP:0002483	Bulbar signs	HP:0040283	ORPHA:171439
84665	MYPN	HP:0003798	Nemaline bodies	4/4	OMIM:617336
84665	MYPN	HP:0003798	Nemaline bodies	HP:0040281	ORPHA:171439
84665	MYPN	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
84665	MYPN	HP:0007210	Lower limb amyotrophy	HP:0040283	ORPHA:171881
84665	MYPN	HP:0002421	Poor head control	HP:0040283	ORPHA:171881
84665	MYPN	HP:0003700	Generalized amyotrophy	HP:0040283	ORPHA:171881
84665	MYPN	HP:0001297	Stroke	HP:0040284	ORPHA:75249
84665	MYPN	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:171881
84665	MYPN	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:171439
84665	MYPN	HP:0001270	Motor delay	HP:0040282	ORPHA:171881
84665	MYPN	HP:0001270	Motor delay	HP:0040282	ORPHA:171439
84665	MYPN	HP:0001288	Gait disturbance	HP:0040282	ORPHA:171439
84665	MYPN	HP:0001284	Areflexia	HP:0040283	ORPHA:171439
84665	MYPN	HP:0001279	Syncope	HP:0040284	ORPHA:75249
84665	MYPN	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:171439
84665	MYPN	HP:0007340	Lower limb muscle weakness	HP:0040283	ORPHA:171881
84665	MYPN	HP:0002515	Waddling gait	2/4	OMIM:617336
84665	MYPN	HP:0002515	Waddling gait	HP:0040283	ORPHA:171439
84665	MYPN	HP:0003803	Type 1 muscle fiber predominance	4/4	OMIM:617336
84665	MYPN	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171439
84665	MYPN	HP:0001371	Flexion contracture	HP:0040283	ORPHA:171439
84665	MYPN	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171439
84665	MYPN	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:75249
84665	MYPN	HP:0001324	Muscle weakness	4/4	OMIM:617336
84665	MYPN	HP:0000007	Autosomal recessive inheritance	-	OMIM:617336
84665	MYPN	HP:0000006	Autosomal dominant inheritance	-	OMIM:615248
84665	MYPN	HP:0002650	Scoliosis	HP:0040283	ORPHA:171439
84665	MYPN	HP:0033755	Increased left ventricular end-diastolic volume	8/10	OMIM:615248
84665	MYPN	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:171881
84665	MYPN	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:171881
84665	MYPN	HP:0031295	Left atrial enlargement	HP:0040282	ORPHA:75249
84665	MYPN	HP:0002792	Reduced vital capacity	1/2	OMIM:617336
84665	MYPN	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:171439
84665	MYPN	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:171439
84665	MYPN	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:171439
84665	MYPN	HP:0002094	Dyspnea	HP:0040283	ORPHA:75249
84665	MYPN	HP:0002067	Bradykinesia	HP:0040282	ORPHA:171439
84665	MYPN	HP:0002068	Neuromuscular dysphagia	HP:0040282	ORPHA:171439
84665	MYPN	HP:0003391	Gowers sign	1/4	OMIM:617336
84665	MYPN	HP:0003391	Gowers sign	HP:0040283	ORPHA:171881
84665	MYPN	HP:0030950	Pulmonary venous hypertension	HP:0040282	ORPHA:75249
84665	MYPN	HP:0003388	Easy fatigability	HP:0040283	ORPHA:171881
84665	MYPN	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
84665	MYPN	HP:0011705	First degree atrioventricular block	1/4	OMIM:617336
84665	MYPN	HP:0011703	Sinus tachycardia	HP:0040283	ORPHA:171881
84665	MYPN	HP:0100598	Pulmonary edema	HP:0040283	ORPHA:75249
84665	MYPN	HP:0008180	Mildly elevated creatine kinase	HP:0040283	ORPHA:171439
84665	MYPN	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
84665	MYPN	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:171439
84665	MYPN	HP:0003596	Middle age onset	3/8	OMIM:615248
84665	MYPN	HP:0003596	Middle age onset	1/4	OMIM:617336
84665	MYPN	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:75249
84665	MYPN	HP:0003584	Late onset	1/8	OMIM:615248
84665	MYPN	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:171439
84665	MYPN	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:171881
84665	MYPN	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:171439
84665	MYPN	HP:0003557	Increased variability in muscle fiber diameter	HP:0040283	ORPHA:171881
84665	MYPN	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:171439
84665	MYPN	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:75249
84665	MYPN	HP:0007010	Poor fine motor coordination	-	ORPHA:171439
84665	MYPN	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:171439
84665	MYPN	HP:0010628	Facial palsy	HP:0040283	ORPHA:171881
84665	MYPN	HP:0010628	Facial palsy	-	OMIM:617336
84665	MYPN	HP:0003691	Scapular winging	1/4	OMIM:617336
84665	MYPN	HP:0003691	Scapular winging	HP:0040283	ORPHA:171439
84665	MYPN	HP:0003690	Limb muscle weakness	HP:0040282	ORPHA:171439
84665	MYPN	HP:0002359	Frequent falls	HP:0040283	ORPHA:171881
84665	MYPN	HP:0003677	Slowly progressive	-	OMIM:617336
84665	MYPN	HP:0007110	Central hypoventilation	HP:0040283	ORPHA:171881
84665	MYPN	HP:0002312	Clumsiness	HP:0040282	ORPHA:171439
84665	MYPN	HP:0003621	Juvenile onset	1/8	OMIM:615248
84665	MYPN	HP:0003621	Juvenile onset	2/4	OMIM:617336
84665	MYPN	HP:0001907	Thromboembolism	HP:0040284	ORPHA:75249
84665	MYPN	HP:0009055	Generalized limb muscle atrophy	HP:0040282	ORPHA:171439
84665	MYPN	HP:0009058	Increased muscle lipid content	HP:0040282	ORPHA:171439
84665	MYPN	HP:0009046	Difficulty running	HP:0040283	ORPHA:171881
84665	MYPN	HP:0001989	Fetal akinesia sequence	HP:0040283	ORPHA:171439
84665	MYPN	HP:0004303	Abnormal muscle fiber morphology	HP:0040282	ORPHA:171881
84665	MYPN	HP:0000767	Pectus excavatum	1/4	OMIM:617336
84665	MYPN	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:171881
84665	MYPN	HP:0011463	Childhood onset	1/4	OMIM:617336
84665	MYPN	HP:0011462	Young adult onset	3/8	OMIM:615248
84665	MYPN	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
84665	MYPN	HP:0012764	Orthopnea	HP:0040283	ORPHA:75249
84665	MYPN	HP:0000774	Narrow chest	HP:0040283	ORPHA:171439
84665	MYPN	HP:0003198	Myopathy	HP:0040283	ORPHA:154
84665	MYPN	HP:0003198	Myopathy	HP:0040281	ORPHA:171439
84665	MYPN	HP:0030718	Right atrial enlargement	HP:0040282	ORPHA:75249
84665	MYPN	HP:0040081	Abnormal circulating creatine kinase concentration	0/4	OMIM:617336
84665	MYPN	HP:0000969	Edema	HP:0040282	ORPHA:154
84665	MYPN	HP:0008081	Pes valgus	HP:0040283	ORPHA:171881
84665	MYPN	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
84665	MYPN	HP:0000275	Narrow face	HP:0040283	ORPHA:171439
84665	MYPN	HP:0000276	Long face	HP:0040282	ORPHA:171881
84665	MYPN	HP:0000276	Long face	HP:0040283	ORPHA:171439
84665	MYPN	HP:0005144	Ventricular septal hypertrophy	HP:0040284	OMIM:615248
84665	MYPN	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:75249
84665	MYPN	HP:0005110	Atrial fibrillation	HP:0040283	ORPHA:75249
84665	MYPN	HP:0005110	Atrial fibrillation	1/11	OMIM:615248
84665	MYPN	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	ORPHA:171439
84665	MYPN	HP:0031329	Interstitial cardiac fibrosis	HP:0040282	ORPHA:75249
84665	MYPN	HP:0000218	High palate	3/4	OMIM:617336
84665	MYPN	HP:0000218	High palate	HP:0040282	ORPHA:171881
84665	MYPN	HP:0000218	High palate	HP:0040283	ORPHA:171439
84665	MYPN	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
84665	MYPN	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:171439
84665	MYPN	HP:0001533	Slender build	HP:0040283	ORPHA:171439
84665	MYPN	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:171881
84665	MYPN	HP:0012398	Peripheral edema	HP:0040283	ORPHA:75249
84665	MYPN	HP:0012378	Fatigue	HP:0040282	ORPHA:154
84665	MYPN	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040283	ORPHA:171881
84665	MYPN	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:171881
84665	MYPN	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040283	ORPHA:171439
84665	MYPN	HP:0002943	Thoracic scoliosis	HP:0040283	ORPHA:171881
84665	MYPN	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:171881
84665	MYPN	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:75249
84665	MYPN	HP:0005162	Abnormal left ventricular function	HP:0040281	ORPHA:75249
84665	MYPN	HP:0000347	Micrognathia	HP:0040283	ORPHA:171439
84665	MYPN	HP:0000316	Hypertelorism	HP:0040283	ORPHA:171439
84665	MYPN	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
84665	MYPN	HP:0001644	Dilated cardiomyopathy	11/11	OMIM:615248
84665	MYPN	HP:0001653	Mitral regurgitation	1/11	OMIM:615248
84665	MYPN	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:75249
84665	MYPN	HP:0001623	Breech presentation	HP:0040283	ORPHA:171439
84665	MYPN	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:615248
84665	MYPN	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:75249
84665	MYPN	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
84665	MYPN	HP:0001635	Congestive heart failure	5/11	OMIM:615248
84665	MYPN	HP:0001638	Cardiomyopathy	2/4	OMIM:617336
84665	MYPN	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:171439
84665	MYPN	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:171881
84665	MYPN	HP:0006673	Reduced systolic function	HP:0040283	ORPHA:171881
84665	MYPN	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
84665	MYPN	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
84665	MYPN	HP:0001712	Left ventricular hypertrophy	3/11	OMIM:615248
84665	MYPN	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:171439
84665	MYPN	HP:0001763	Pes planus	HP:0040283	ORPHA:171881
84665	MYPN	HP:0001762	Talipes equinovarus	1/4	OMIM:617336
84665	MYPN	HP:0001761	Pes cavus	1/4	OMIM:617336
84665	MYPN	HP:0001761	Pes cavus	HP:0040283	ORPHA:171439
84665	MYPN	HP:0000508	Ptosis	HP:0040284	ORPHA:171439
84667	HES7	HP:0002475	Myelomeningocele	1/1	OMIM:613686
84667	HES7	HP:0002435	Meningocele	HP:0040283	ORPHA:2311
84667	HES7	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
84667	HES7	HP:0001293	Cranial nerve compression	-	OMIM:131300
84667	HES7	HP:0001252	Hypotonia	2/7	OMIM:615777
84667	HES7	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2311
84667	HES7	HP:0001249	Intellectual disability	5/7	OMIM:615777
84667	HES7	HP:0001263	Global developmental delay	-	OMIM:615777
84667	HES7	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:2311
84667	HES7	HP:0010978	Abnormality of immune system physiology	HP:0040281	ORPHA:2311
84667	HES7	HP:0002515	Waddling gait	54/102	OMIM:131300
84667	HES7	HP:0032341	Reduced forced vital capacity	1/1	OMIM:613686
84667	HES7	HP:0032342	Reduced forced expiratory volume in one second	1/1	OMIM:613686
84667	HES7	HP:0000069	Abnormality of the ureter	HP:0040283	ORPHA:2311
84667	HES7	HP:0001382	Joint hypermobility	-	OMIM:615777
84667	HES7	HP:0000047	Hypospadias	HP:0040283	ORPHA:2311
84667	HES7	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2311
84667	HES7	HP:0002694	Sclerosis of skull base	-	OMIM:131300
84667	HES7	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2311
84667	HES7	HP:0008897	Postnatal growth retardation	-	OMIM:615777
84667	HES7	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
84667	HES7	HP:0001324	Muscle weakness	40/96	OMIM:131300
84667	HES7	HP:0000011	Neurogenic bladder	1/1	OMIM:613686
84667	HES7	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
84667	HES7	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:2311
84667	HES7	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
84667	HES7	HP:0000007	Autosomal recessive inheritance	-	OMIM:613686
84667	HES7	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
84667	HES7	HP:0002650	Scoliosis	1/2	OMIM:613686
84667	HES7	HP:0002650	Scoliosis	HP:0040281	ORPHA:2311
84667	HES7	HP:0002650	Scoliosis	12/14	OMIM:131300
84667	HES7	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
84667	HES7	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
84667	HES7	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
84667	HES7	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
84667	HES7	HP:0000175	Cleft palate	HP:0040283	ORPHA:2311
84667	HES7	HP:0000175	Cleft palate	2/7	OMIM:615777
84667	HES7	HP:0002025	Anal stenosis	1/1	OMIM:613686
84667	HES7	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:2311
84667	HES7	HP:0003310	Abnormal odontoid process morphology	-	OMIM:613686
84667	HES7	HP:0003305	Block vertebrae	-	OMIM:613686
84667	HES7	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2311
84667	HES7	HP:0002091	Restrictive ventilatory defect	1/1	OMIM:613686
84667	HES7	HP:0003388	Easy fatigability	36/76	OMIM:131300
84667	HES7	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
84667	HES7	HP:0100589	Urogenital fistula	HP:0040283	ORPHA:2311
84667	HES7	HP:0003422	Vertebral segmentation defect	HP:0040281	ORPHA:2311
84667	HES7	HP:0003422	Vertebral segmentation defect	3/3	OMIM:613686
84667	HES7	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2311
84667	HES7	HP:0034566	Aplasia of posterior communicating artery	2/2	OMIM:613686
84667	HES7	HP:0003577	Congenital onset	3/3	OMIM:613686
84667	HES7	HP:0003510	Severe short stature	7/7	OMIM:615777
84667	HES7	HP:0002315	Headache	-	OMIM:131300
84667	HES7	HP:0004976	Knee dislocation	6/7	OMIM:615777
84667	HES7	HP:0009803	Short phalanx of finger	-	OMIM:615777
84667	HES7	HP:0010772	Anomalous pulmonary venous return	HP:0040283	ORPHA:2311
84667	HES7	HP:0009763	Limb pain	63/92	OMIM:131300
84667	HES7	HP:0003621	Juvenile onset	-	OMIM:131300
84667	HES7	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
84667	HES7	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
84667	HES7	HP:6001056	Out-toeing	-	OMIM:131300
84667	HES7	HP:0000651	Diplopia	-	OMIM:131300
84667	HES7	HP:0001956	Truncal obesity	2/7	OMIM:615777
84667	HES7	HP:0001903	Anemia	HP:0040283	OMIM:131300
84667	HES7	HP:0010049	Short metacarpal	-	OMIM:615777
84667	HES7	HP:0000678	Dental crowding	-	OMIM:615777
84667	HES7	HP:0000670	Carious teeth	-	OMIM:131300
84667	HES7	HP:0011304	Broad thumb	2/7	OMIM:615777
84667	HES7	HP:0000668	Hypodontia	-	OMIM:615777
84667	HES7	HP:0000664	Synophrys	-	OMIM:615777
84667	HES7	HP:0004322	Short stature	HP:0040281	ORPHA:2311
84667	HES7	HP:0004322	Short stature	2/3	OMIM:613686
84667	HES7	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2311
84667	HES7	HP:0004397	Ectopic anus	1/1	OMIM:613686
84667	HES7	HP:0004396	Poor appetite	-	OMIM:131300
84667	HES7	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
84667	HES7	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
84667	HES7	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
84667	HES7	HP:0003026	Short long bone	7/7	OMIM:615777
84667	HES7	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
84667	HES7	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:2311
84667	HES7	HP:0000767	Pectus excavatum	1/2	OMIM:613686
84667	HES7	HP:0000767	Pectus excavatum	2/7	OMIM:615777
84667	HES7	HP:0000768	Pectus carinatum	1/7	OMIM:615777
84667	HES7	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
84667	HES7	HP:0000750	Delayed speech and language development	-	OMIM:615777
84667	HES7	HP:0011461	Fetal onset	7/7	OMIM:615777
84667	HES7	HP:0000774	Narrow chest	2/7	OMIM:615777
84667	HES7	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:2311
84667	HES7	HP:0000926	Platyspondyly	1/7	OMIM:615777
84667	HES7	HP:0000921	Missing ribs	1/2	OMIM:613686
84667	HES7	HP:0003180	Flat acetabular roof	-	OMIM:615777
84667	HES7	HP:0000902	Rib fusion	HP:0040281	ORPHA:2311
84667	HES7	HP:0000902	Rib fusion	2/3	OMIM:613686
84667	HES7	HP:0004482	Relative macrocephaly	-	OMIM:615777
84667	HES7	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
84667	HES7	HP:0000823	Delayed puberty	-	OMIM:131300
84667	HES7	HP:0000894	Short clavicles	-	OMIM:615777
84667	HES7	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
84667	HES7	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:2311
84667	HES7	HP:0003298	Spina bifida occulta	1/2	OMIM:613686
84667	HES7	HP:0010306	Short thorax	HP:0040281	ORPHA:2311
84667	HES7	HP:0010306	Short thorax	1/1	OMIM:613686
84667	HES7	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
84667	HES7	HP:0000286	Epicanthus	1/7	OMIM:615777
84667	HES7	HP:0000280	Coarse facial features	2/7	OMIM:615777
84667	HES7	HP:0001591	Bell-shaped thorax	1/1	OMIM:613686
84667	HES7	HP:0000256	Macrocephaly	HP:0040283	ORPHA:2311
84667	HES7	HP:0000269	Prominent occiput	HP:0040283	ORPHA:2311
84667	HES7	HP:0005108	Abnormal intervertebral disk morphology	HP:0040281	ORPHA:2311
84667	HES7	HP:0002827	Hip dislocation	3/7	OMIM:615777
84667	HES7	HP:0002808	Kyphosis	HP:0040282	ORPHA:2311
84667	HES7	HP:0000238	Hydrocephalus	1/1	OMIM:613686
84667	HES7	HP:0000252	Microcephaly	HP:0040283	ORPHA:2311
84667	HES7	HP:0000252	Microcephaly	-	OMIM:615777
84667	HES7	HP:0002857	Genu valgum	-	OMIM:131300
84667	HES7	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2311
84667	HES7	HP:0001533	Slender build	-	OMIM:131300
84667	HES7	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2311
84667	HES7	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
84667	HES7	HP:0007807	Optic nerve compression	-	OMIM:131300
84667	HES7	HP:0012368	Flat face	7/7	OMIM:615777
84667	HES7	HP:0002937	Hemivertebrae	2/2	OMIM:613686
84667	HES7	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
84667	HES7	HP:0002948	Vertebral fusion	1/1	OMIM:613686
84667	HES7	HP:0025660	Chiari type II malformation	1/1	OMIM:613686
84667	HES7	HP:0001696	Situs inversus totalis	-	OMIM:613686
84667	HES7	HP:0000365	Hearing impairment	10/67	OMIM:131300
84667	HES7	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:2311
84667	HES7	HP:0000343	Long philtrum	HP:0040283	ORPHA:2311
84667	HES7	HP:0000343	Long philtrum	1/7	OMIM:615777
84667	HES7	HP:0011001	Increased bone mineral density	-	OMIM:131300
84667	HES7	HP:0000337	Broad forehead	HP:0040283	ORPHA:2311
84667	HES7	HP:0001651	Dextrocardia	-	OMIM:613686
84667	HES7	HP:0000311	Round face	2/7	OMIM:615777
84667	HES7	HP:0002970	Genu varum	-	OMIM:615777
84667	HES7	HP:0000303	Mandibular prognathia	-	OMIM:131300
84667	HES7	HP:0030323	Unilateral vertebral artery hypoplasia	-	OMIM:613686
84667	HES7	HP:0030322	Vertebral artery hypoplasia	2/2	OMIM:613686
84667	HES7	HP:0006655	Rib segmentation abnormalities	HP:0040281	ORPHA:2311
84667	HES7	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:2311
84667	HES7	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
84667	HES7	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2311
84667	HES7	HP:0000475	Broad neck	1/2	OMIM:613686
84667	HES7	HP:0000470	Short neck	1/2	OMIM:613686
84667	HES7	HP:0000470	Short neck	HP:0040281	ORPHA:2311
84667	HES7	HP:0000470	Short neck	1/7	OMIM:615777
84667	HES7	HP:0001769	Broad foot	HP:0040283	OMIM:615777
84667	HES7	HP:0001763	Pes planus	1/7	OMIM:615777
84667	HES7	HP:0001840	Metatarsus adductus	-	OMIM:615777
84667	HES7	HP:0000520	Proptosis	2/4	OMIM:131300
84667	HES7	HP:0000520	Proptosis	7/7	OMIM:615777
84667	HES7	HP:0000592	Blue sclerae	2/7	OMIM:615777
84667	HES7	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
84667	HES7	HP:0012514	Lower limb pain	4/4	OMIM:131300
84668	HYCC1	HP:0007256	Abnormal pyramidal sign	9/10	OMIM:610532
84668	HYCC1	HP:0007256	Abnormal pyramidal sign	HP:0040281	ORPHA:85163
84668	HYCC1	HP:0007210	Lower limb amyotrophy	9/10	OMIM:610532
84668	HYCC1	HP:0002415	Leukodystrophy	-	OMIM:610532
84668	HYCC1	HP:0001271	Polyneuropathy	9/10	OMIM:610532
84668	HYCC1	HP:0001270	Motor delay	-	OMIM:610532
84668	HYCC1	HP:0001250	Seizure	3/10	OMIM:610532
84668	HYCC1	HP:0001249	Intellectual disability	10/10	OMIM:610532
84668	HYCC1	HP:0001260	Dysarthria	10/10	OMIM:610532
84668	HYCC1	HP:0001263	Global developmental delay	10/10	OMIM:610532
84668	HYCC1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:85163
84668	HYCC1	HP:0007340	Lower limb muscle weakness	9/10	OMIM:610532
84668	HYCC1	HP:0002505	Loss of ambulation	5/10	OMIM:610532
84668	HYCC1	HP:0001347	Hyperreflexia	10/10	OMIM:610532
84668	HYCC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:610532
84668	HYCC1	HP:0002650	Scoliosis	4/10	OMIM:610532
84668	HYCC1	HP:0001317	Abnormal cerebellum morphology	HP:0040281	ORPHA:85163
84668	HYCC1	HP:0001317	Abnormal cerebellum morphology	-	OMIM:610532
84668	HYCC1	HP:0008936	Axial hypotonia	10/10	OMIM:610532
84668	HYCC1	HP:0002080	Intention tremor	9/10	OMIM:610532
84668	HYCC1	HP:0003383	Onion bulb formation	4/4	OMIM:610532
84668	HYCC1	HP:0003487	Babinski sign	10/10	OMIM:610532
84668	HYCC1	HP:0003431	Decreased motor nerve conduction velocity	9/10	OMIM:610532
84668	HYCC1	HP:0003429	CNS hypomyelination	10/10	OMIM:610532
84668	HYCC1	HP:0003577	Congenital onset	10/10	OMIM:610532
84668	HYCC1	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:85163
84668	HYCC1	HP:0006808	Cerebral hypomyelination	HP:0040281	ORPHA:85163
84668	HYCC1	HP:0031936	Delayed ability to walk	3/10	OMIM:610532
84668	HYCC1	HP:0012762	Cerebral white matter atrophy	-	OMIM:610532
84668	HYCC1	HP:0004466	Delayed brainstem auditory evoked response conduction time	7/10	OMIM:610532
84668	HYCC1	HP:0100291	Delayed somatosensory central conduction time	6/10	OMIM:610532
84668	HYCC1	HP:0030147	Truncal titubation	9/10	OMIM:610532
84668	HYCC1	HP:0000519	Developmental cataract	10/10	OMIM:610532
84668	HYCC1	HP:0000519	Developmental cataract	HP:0040281	ORPHA:85163
84679	SLC9A7	HP:0009890	High anterior hairline	-	OMIM:301024
84679	SLC9A7	HP:0003701	Proximal muscle weakness	2/5	OMIM:301024
84679	SLC9A7	HP:0001290	Generalized hypotonia	1/5	OMIM:301024
84679	SLC9A7	HP:0001288	Gait disturbance	1/5	OMIM:301024
84679	SLC9A7	HP:0001252	Hypotonia	2/5	OMIM:301024
84679	SLC9A7	HP:0001263	Global developmental delay	5/5	OMIM:301024
84679	SLC9A7	HP:0025336	Delayed ability to sit	1/5	OMIM:301024
84679	SLC9A7	HP:0001348	Brisk reflexes	2/5	OMIM:301024
84679	SLC9A7	HP:0001324	Muscle weakness	1/5	OMIM:301024
84679	SLC9A7	HP:0001419	X-linked recessive inheritance	-	OMIM:301024
84679	SLC9A7	HP:0011800	Midface retrusion	1/5	OMIM:301024
84679	SLC9A7	HP:0002058	Myopathic facies	1/5	OMIM:301024
84679	SLC9A7	HP:0003487	Babinski sign	1/5	OMIM:301024
84679	SLC9A7	HP:0002136	Broad-based gait	1/5	OMIM:301024
84679	SLC9A7	HP:0003593	Infantile onset	5/5	OMIM:301024
84679	SLC9A7	HP:0007018	Attention deficit hyperactivity disorder	1/5	OMIM:301024
84679	SLC9A7	HP:0002342	Intellectual disability, moderate	3/3	OMIM:301024
84679	SLC9A7	HP:0002307	Drooling	1/5	OMIM:301024
84679	SLC9A7	HP:0004209	Clinodactyly of the 5th finger	2/5	OMIM:301024
84679	SLC9A7	HP:0031936	Delayed ability to walk	2/5	OMIM:301024
84679	SLC9A7	HP:0000750	Delayed speech and language development	1/5	OMIM:301024
84679	SLC9A7	HP:0000276	Long face	2/5	OMIM:301024
84679	SLC9A7	HP:0000219	Thin upper lip vermilion	1/5	OMIM:301024
84679	SLC9A7	HP:0025502	Overweight	2/5	OMIM:301024
84679	SLC9A7	HP:0000343	Long philtrum	1/5	OMIM:301024
84679	SLC9A7	HP:0000486	Strabismus	1/5	OMIM:301024
84679	SLC9A7	HP:0000494	Downslanted palpebral fissures	1/5	OMIM:301024
84679	SLC9A7	HP:0000490	Deeply set eye	1/5	OMIM:301024
84679	SLC9A7	HP:0001763	Pes planus	1/5	OMIM:301024
84690	SPATA22	HP:0031039	Spermatocyte maturation arrest	1/1	OMIM:621001
84690	SPATA22	HP:0000028	Cryptorchidism	0/2	OMIM:621001
84690	SPATA22	HP:0000007	Autosomal recessive inheritance	-	OMIM:621002
84690	SPATA22	HP:0000007	Autosomal recessive inheritance	-	OMIM:621001
84690	SPATA22	HP:0031103	Decreased circulating antimullerian hormone circulation	2/2	OMIM:621002
84690	SPATA22	HP:0008232	Elevated circulating follicle stimulating hormone level	2/2	OMIM:621002
84690	SPATA22	HP:0008222	Female infertility	2/2	OMIM:621002
84690	SPATA22	HP:0008209	Premature ovarian insufficiency	2/2	OMIM:621002
84690	SPATA22	HP:0011961	Non-obstructive azoospermia	3/3	OMIM:621001
84690	SPATA22	HP:0011462	Young adult onset	2/2	OMIM:621002
84690	SPATA22	HP:0011462	Young adult onset	3/3	OMIM:621001
84690	SPATA22	HP:0000858	Irregular menstruation	2/2	OMIM:621002
84690	SPATA22	HP:0003251	Male infertility	3/3	OMIM:621001
84690	SPATA22	HP:0030087	Abnormal circulating testosterone concentration	0/2	OMIM:621001
84690	SPATA22	HP:0002960	Autoimmunity	0/2	OMIM:621002
84690	SPATA22	HP:0030338	Abnormal circulating gonadotropin concentration	0/2	OMIM:621001
84693	MCEE	HP:0001270	Motor delay	1/1	OMIM:251120
84693	MCEE	HP:0001257	Spasticity	1/1	OMIM:251120
84693	MCEE	HP:0000007	Autosomal recessive inheritance	-	OMIM:251120
84693	MCEE	HP:0012120	Methylmalonic aciduria	2/2	OMIM:251120
84693	MCEE	HP:0002020	Gastroesophageal reflux	1/1	OMIM:251120
84693	MCEE	HP:0002160	Hyperhomocystinemia	0/1	OMIM:251120
84693	MCEE	HP:0003593	Infantile onset	2/2	OMIM:251120
84693	MCEE	HP:0001944	Dehydration	1/1	OMIM:251120
84693	MCEE	HP:0001942	Metabolic acidosis	1/1	OMIM:251120
84693	MCEE	HP:0001508	Failure to thrive	1/1	OMIM:251120
84693	MCEE	HP:0002919	Ketonuria	1/1	OMIM:251120
84693	MCEE	HP:0031544	Elevated circulating palmitoleylcarnitine concentration	1/1	OMIM:251120
84695	LOXL3	HP:0001123	Visual field defect	-	OMIM:143200
84695	LOXL3	HP:0001270	Motor delay	-	OMIM:156550
84695	LOXL3	HP:0001288	Gait disturbance	-	OMIM:156550
84695	LOXL3	HP:0006095	Wide tufts of distal phalanges	-	OMIM:154780
84695	LOXL3	HP:0001376	Limitation of joint mobility	-	OMIM:156550
84695	LOXL3	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:250984
84695	LOXL3	HP:0012019	Lens luxation	-	OMIM:154780
84695	LOXL3	HP:0000023	Inguinal hernia	-	OMIM:156550
84695	LOXL3	HP:0002684	Thickened calvaria	-	OMIM:154780
84695	LOXL3	HP:0002688	Absent frontal sinuses	-	OMIM:154780
84695	LOXL3	HP:0008839	Hypoplastic pelvis	-	OMIM:156550
84695	LOXL3	HP:0006172	Flattened, squared-off epiphyses of tubular bones	-	OMIM:156550
84695	LOXL3	HP:0002663	Delayed epiphyseal ossification	-	OMIM:156550
84695	LOXL3	HP:0002656	Epiphyseal dysplasia	-	OMIM:184840
84695	LOXL3	HP:0002656	Epiphyseal dysplasia	HP:0040281	ORPHA:250984
84695	LOXL3	HP:0002655	Spondyloepiphyseal dysplasia	HP:0040283	ORPHA:250984
84695	LOXL3	HP:0002673	Coxa valga	-	OMIM:154780
84695	LOXL3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619781
84695	LOXL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:154780
84695	LOXL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:156550
84695	LOXL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:143200
84695	LOXL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:184840
84695	LOXL3	HP:0002650	Scoliosis	HP:0040283	ORPHA:250984
84695	LOXL3	HP:0008905	Rhizomelia	1/1	OMIM:156550
84695	LOXL3	HP:0000179	Thick lower lip vermilion	-	OMIM:154780
84695	LOXL3	HP:0000193	Bifid uvula	4/9	OMIM:154780
84695	LOXL3	HP:0000175	Cleft palate	-	OMIM:184840
84695	LOXL3	HP:0000175	Cleft palate	1/1	OMIM:156550
84695	LOXL3	HP:0000175	Cleft palate	4/9	OMIM:154780
84695	LOXL3	HP:0000175	Cleft palate	HP:0040284	ORPHA:250984
84695	LOXL3	HP:0007643	Peripheral tractional retinal detachment	-	OMIM:143200
84695	LOXL3	HP:0002779	Tracheomalacia	-	OMIM:156550
84695	LOXL3	HP:0004619	Lumbar kyphoscoliosis	-	OMIM:156550
84695	LOXL3	HP:0003301	Irregular vertebral endplates	HP:0040282	ORPHA:250984
84695	LOXL3	HP:0011800	Midface retrusion	-	OMIM:184840
84695	LOXL3	HP:0011800	Midface retrusion	-	OMIM:156550
84695	LOXL3	HP:0011800	Midface retrusion	9/9	OMIM:154780
84695	LOXL3	HP:0011800	Midface retrusion	HP:0040282	ORPHA:250984
84695	LOXL3	HP:0002098	Respiratory distress	-	OMIM:156550
84695	LOXL3	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:250984
84695	LOXL3	HP:0003417	Coronal cleft vertebrae	1/1	OMIM:156550
84695	LOXL3	HP:0008271	Abnormal cartilage collagen	-	OMIM:156550
84695	LOXL3	HP:0010580	Enlarged epiphyses	-	OMIM:184840
84695	LOXL3	HP:0003577	Congenital onset	1/1	OMIM:156550
84695	LOXL3	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:156550
84695	LOXL3	HP:0200003	Splayed epiphyses	-	OMIM:156550
84695	LOXL3	HP:0004209	Clinodactyly of the 5th finger	2/9	OMIM:154780
84695	LOXL3	HP:0000648	Optic atrophy	-	OMIM:143200
84695	LOXL3	HP:0030490	Exudative vitreoretinopathy	HP:0040283	OMIM:143200
84695	LOXL3	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:154780
84695	LOXL3	HP:0004322	Short stature	-	OMIM:154780
84695	LOXL3	HP:0004327	Abnormal vitreous humor morphology	HP:0040282	ORPHA:250984
84695	LOXL3	HP:0030663	Optically empty vitreous	-	OMIM:143200
84695	LOXL3	HP:0003088	Premature osteoarthritis	-	OMIM:184840
84695	LOXL3	HP:0003037	Enlarged joints	-	OMIM:156550
84695	LOXL3	HP:0003031	Ulnar bowing	-	OMIM:154780
84695	LOXL3	HP:0003015	Flared metaphysis	-	OMIM:156550
84695	LOXL3	HP:0000767	Pectus excavatum	1/1	OMIM:156550
84695	LOXL3	HP:0011463	Childhood onset	2/2	OMIM:619781
84695	LOXL3	HP:0003196	Short nose	9/9	OMIM:154780
84695	LOXL3	HP:0000926	Platyspondyly	1/9	OMIM:154780
84695	LOXL3	HP:0000926	Platyspondyly	-	OMIM:184840
84695	LOXL3	HP:0000926	Platyspondyly	HP:0040283	ORPHA:250984
84695	LOXL3	HP:0000926	Platyspondyly	1/1	OMIM:156550
84695	LOXL3	HP:0040025	Clinodactyly of the 4th finger	2/9	OMIM:154780
84695	LOXL3	HP:0003273	Hip contracture	-	OMIM:156550
84695	LOXL3	HP:0100250	Meningeal calcification	-	OMIM:154780
84695	LOXL3	HP:0000947	Dumbbell-shaped long bone	-	OMIM:156550
84695	LOXL3	HP:0000946	Hypoplastic ilia	-	OMIM:154780
84695	LOXL3	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:143200
84695	LOXL3	HP:0012283	Small distal femoral epiphysis	-	OMIM:154780
84695	LOXL3	HP:0012284	Small proximal tibial epiphyses	-	OMIM:154780
84695	LOXL3	HP:0000286	Epicanthus	-	OMIM:154780
84695	LOXL3	HP:0000272	Malar flattening	-	OMIM:154780
84695	LOXL3	HP:0000272	Malar flattening	27/28	OMIM:184840
84695	LOXL3	HP:0000272	Malar flattening	HP:0040282	ORPHA:250984
84695	LOXL3	HP:0000272	Malar flattening	1/1	OMIM:156550
84695	LOXL3	HP:0006456	Irregular proximal tibial epiphyses	-	OMIM:154780
84695	LOXL3	HP:0007773	Vitreoretinopathy	-	OMIM:154780
84695	LOXL3	HP:0007773	Vitreoretinopathy	HP:0040282	ORPHA:250984
84695	LOXL3	HP:0007773	Vitreoretinopathy	-	OMIM:143200
84695	LOXL3	HP:0006429	Broad femoral neck	HP:0040283	ORPHA:250984
84695	LOXL3	HP:0006407	Irregular distal femoral epiphysis	-	OMIM:154780
84695	LOXL3	HP:0002812	Coxa vara	-	OMIM:156550
84695	LOXL3	HP:0002829	Arthralgia	20/20	OMIM:184840
84695	LOXL3	HP:0002829	Arthralgia	HP:0040282	ORPHA:250984
84695	LOXL3	HP:0002827	Hip dislocation	-	OMIM:156550
84695	LOXL3	HP:0005086	Knee osteoarthritis	-	OMIM:154780
84695	LOXL3	HP:0006375	Dumbbell-shaped femur	1/1	OMIM:156550
84695	LOXL3	HP:0006361	Irregular femoral epiphysis	-	OMIM:154780
84695	LOXL3	HP:0000218	High palate	HP:0040283	ORPHA:250984
84695	LOXL3	HP:0000215	Thick upper lip vermilion	-	OMIM:154780
84695	LOXL3	HP:0001537	Umbilical hernia	-	OMIM:156550
84695	LOXL3	HP:0000201	Pierre-Robin sequence	4/9	OMIM:154780
84695	LOXL3	HP:0000201	Pierre-Robin sequence	-	OMIM:184840
84695	LOXL3	HP:0012368	Flat face	HP:0040281	ORPHA:250984
84695	LOXL3	HP:0011003	High myopia	3/3	OMIM:619781
84695	LOXL3	HP:0011003	High myopia	HP:0040281	ORPHA:250984
84695	LOXL3	HP:0000369	Low-set ears	-	OMIM:154780
84695	LOXL3	HP:0000343	Long philtrum	-	OMIM:154780
84695	LOXL3	HP:0000347	Micrognathia	-	OMIM:154780
84695	LOXL3	HP:0000347	Micrognathia	HP:0040282	ORPHA:250984
84695	LOXL3	HP:0002982	Tibial bowing	1/1	OMIM:156550
84695	LOXL3	HP:0000316	Hypertelorism	-	OMIM:154780
84695	LOXL3	HP:0000311	Round face	-	OMIM:156550
84695	LOXL3	HP:0002986	Radial bowing	-	OMIM:154780
84695	LOXL3	HP:0002970	Genu varum	1/1	OMIM:156550
84695	LOXL3	HP:0007992	Lattice retinal degeneration	HP:0040283	ORPHA:250984
84695	LOXL3	HP:0000407	Sensorineural hearing impairment	9/9	OMIM:154780
84695	LOXL3	HP:0000407	Sensorineural hearing impairment	16/28	OMIM:184840
84695	LOXL3	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:250984
84695	LOXL3	HP:0000403	Recurrent otitis media	4/9	OMIM:154780
84695	LOXL3	HP:0000403	Recurrent otitis media	-	OMIM:156550
84695	LOXL3	HP:0000405	Conductive hearing impairment	-	OMIM:156550
84695	LOXL3	HP:0005280	Depressed nasal bridge	27/28	OMIM:184840
84695	LOXL3	HP:0005280	Depressed nasal bridge	-	OMIM:156550
84695	LOXL3	HP:0005280	Depressed nasal bridge	9/9	OMIM:154780
84695	LOXL3	HP:0000478	Abnormality of the eye	0/3	OMIM:184840
84695	LOXL3	HP:0000463	Anteverted nares	27/28	OMIM:184840
84695	LOXL3	HP:0000463	Anteverted nares	-	OMIM:154780
84695	LOXL3	HP:0000470	Short neck	-	OMIM:156550
84695	LOXL3	HP:0025707	Hypoplastic fetal nasal bone	-	OMIM:154780
84695	LOXL3	HP:0005462	Calcification of falx cerebri	-	OMIM:154780
84695	LOXL3	HP:0000518	Cataract	1/1	OMIM:619781
84695	LOXL3	HP:0000518	Cataract	-	OMIM:156550
84695	LOXL3	HP:0000518	Cataract	-	OMIM:143200
84695	LOXL3	HP:0000518	Cataract	9/9	OMIM:154780
84695	LOXL3	HP:0000518	Cataract	HP:0040282	ORPHA:250984
84695	LOXL3	HP:0000520	Proptosis	-	OMIM:156550
84695	LOXL3	HP:0000501	Glaucoma	-	OMIM:154780
84695	LOXL3	HP:0000501	Glaucoma	-	OMIM:143200
84695	LOXL3	HP:0000572	Visual loss	-	OMIM:143200
84695	LOXL3	HP:0000565	Esotropia	-	OMIM:154780
84695	LOXL3	HP:0000541	Retinal detachment	-	OMIM:154780
84695	LOXL3	HP:0000541	Retinal detachment	-	OMIM:156550
84695	LOXL3	HP:0000541	Retinal detachment	2/3	OMIM:619781
84695	LOXL3	HP:0000541	Retinal detachment	HP:0040283	ORPHA:250984
84695	LOXL3	HP:0000533	Chorioretinal atrophy	-	OMIM:143200
84695	LOXL3	HP:0000545	Myopia	1/1	OMIM:156550
84695	LOXL3	HP:0000545	Myopia	-	OMIM:143200
84695	LOXL3	HP:0000545	Myopia	9/9	OMIM:154780
84695	LOXL3	HP:0000545	Myopia	HP:0040282	ORPHA:250984
84699	CREB3L3	HP:0000006	Autosomal dominant inheritance	-	OMIM:619324
84699	CREB3L3	HP:0002155	Hypertriglyceridemia	2/2	OMIM:619324
84699	CREB3L3	HP:0003124	Hypercholesterolemia	2/2	OMIM:619324
84699	CREB3L3	HP:0003233	Decreased HDL cholesterol concentration	2/2	OMIM:619324
84700	MYO18B	HP:0003798	Nemaline bodies	-	OMIM:616549
84700	MYO18B	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
84700	MYO18B	HP:0001293	Cranial nerve compression	-	OMIM:131300
84700	MYO18B	HP:0001290	Generalized hypotonia	1/2	OMIM:616549
84700	MYO18B	HP:0001270	Motor delay	1/2	OMIM:616549
84700	MYO18B	HP:0001252	Hypotonia	2/7	OMIM:615777
84700	MYO18B	HP:0001249	Intellectual disability	5/7	OMIM:615777
84700	MYO18B	HP:0001263	Global developmental delay	-	OMIM:615777
84700	MYO18B	HP:0002515	Waddling gait	54/102	OMIM:131300
84700	MYO18B	HP:0008807	Acetabular dysplasia	-	OMIM:616549
84700	MYO18B	HP:0001371	Flexion contracture	-	OMIM:616549
84700	MYO18B	HP:0001382	Joint hypermobility	-	OMIM:615777
84700	MYO18B	HP:0002694	Sclerosis of skull base	-	OMIM:131300
84700	MYO18B	HP:0008897	Postnatal growth retardation	-	OMIM:615777
84700	MYO18B	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
84700	MYO18B	HP:0001324	Muscle weakness	40/96	OMIM:131300
84700	MYO18B	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
84700	MYO18B	HP:0000007	Autosomal recessive inheritance	-	OMIM:616549
84700	MYO18B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
84700	MYO18B	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
84700	MYO18B	HP:0002650	Scoliosis	12/14	OMIM:131300
84700	MYO18B	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
84700	MYO18B	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
84700	MYO18B	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
84700	MYO18B	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
84700	MYO18B	HP:0000175	Cleft palate	2/7	OMIM:615777
84700	MYO18B	HP:0003388	Easy fatigability	36/76	OMIM:131300
84700	MYO18B	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
84700	MYO18B	HP:0004602	Cervical C2/C3 vertebral fusion	2/2	OMIM:616549
84700	MYO18B	HP:0002162	Low posterior hairline	2/2	OMIM:616549
84700	MYO18B	HP:0003510	Severe short stature	7/7	OMIM:615777
84700	MYO18B	HP:0002315	Headache	-	OMIM:131300
84700	MYO18B	HP:0004976	Knee dislocation	6/7	OMIM:615777
84700	MYO18B	HP:0009803	Short phalanx of finger	-	OMIM:615777
84700	MYO18B	HP:0009763	Limb pain	63/92	OMIM:131300
84700	MYO18B	HP:0003621	Juvenile onset	-	OMIM:131300
84700	MYO18B	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
84700	MYO18B	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
84700	MYO18B	HP:6001056	Out-toeing	-	OMIM:131300
84700	MYO18B	HP:0000651	Diplopia	-	OMIM:131300
84700	MYO18B	HP:0001956	Truncal obesity	2/7	OMIM:615777
84700	MYO18B	HP:0001903	Anemia	HP:0040283	OMIM:131300
84700	MYO18B	HP:0010049	Short metacarpal	-	OMIM:615777
84700	MYO18B	HP:0000678	Dental crowding	-	OMIM:615777
84700	MYO18B	HP:0000670	Carious teeth	-	OMIM:131300
84700	MYO18B	HP:0011304	Broad thumb	2/7	OMIM:615777
84700	MYO18B	HP:0000668	Hypodontia	-	OMIM:615777
84700	MYO18B	HP:0000664	Synophrys	-	OMIM:615777
84700	MYO18B	HP:0004322	Short stature	1/2	OMIM:616549
84700	MYO18B	HP:0004396	Poor appetite	-	OMIM:131300
84700	MYO18B	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
84700	MYO18B	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
84700	MYO18B	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
84700	MYO18B	HP:0003026	Short long bone	7/7	OMIM:615777
84700	MYO18B	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
84700	MYO18B	HP:0000767	Pectus excavatum	2/7	OMIM:615777
84700	MYO18B	HP:0000768	Pectus carinatum	1/7	OMIM:615777
84700	MYO18B	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
84700	MYO18B	HP:0000750	Delayed speech and language development	-	OMIM:615777
84700	MYO18B	HP:0011461	Fetal onset	7/7	OMIM:615777
84700	MYO18B	HP:0000774	Narrow chest	2/7	OMIM:615777
84700	MYO18B	HP:0003198	Myopathy	-	OMIM:616549
84700	MYO18B	HP:0000926	Platyspondyly	1/7	OMIM:615777
84700	MYO18B	HP:0003180	Flat acetabular roof	-	OMIM:615777
84700	MYO18B	HP:0004482	Relative macrocephaly	-	OMIM:615777
84700	MYO18B	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
84700	MYO18B	HP:0000823	Delayed puberty	-	OMIM:131300
84700	MYO18B	HP:0000894	Short clavicles	-	OMIM:615777
84700	MYO18B	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
84700	MYO18B	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
84700	MYO18B	HP:0000286	Epicanthus	1/7	OMIM:615777
84700	MYO18B	HP:0000280	Coarse facial features	2/7	OMIM:615777
84700	MYO18B	HP:0002827	Hip dislocation	3/7	OMIM:615777
84700	MYO18B	HP:0000252	Microcephaly	2/2	OMIM:616549
84700	MYO18B	HP:0000252	Microcephaly	-	OMIM:615777
84700	MYO18B	HP:0000219	Thin upper lip vermilion	1/2	OMIM:616549
84700	MYO18B	HP:0000218	High palate	1/2	OMIM:616549
84700	MYO18B	HP:0000232	Everted lower lip vermilion	1/2	OMIM:616549
84700	MYO18B	HP:0002857	Genu valgum	-	OMIM:131300
84700	MYO18B	HP:0001533	Slender build	-	OMIM:131300
84700	MYO18B	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
84700	MYO18B	HP:0007807	Optic nerve compression	-	OMIM:131300
84700	MYO18B	HP:0012368	Flat face	7/7	OMIM:615777
84700	MYO18B	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
84700	MYO18B	HP:0002944	Thoracolumbar scoliosis	-	OMIM:616549
84700	MYO18B	HP:0000365	Hearing impairment	10/67	OMIM:131300
84700	MYO18B	HP:0000369	Low-set ears	1/2	OMIM:616549
84700	MYO18B	HP:0000341	Narrow forehead	1/2	OMIM:616549
84700	MYO18B	HP:0000343	Long philtrum	1/7	OMIM:615777
84700	MYO18B	HP:0000343	Long philtrum	1/2	OMIM:616549
84700	MYO18B	HP:0011001	Increased bone mineral density	-	OMIM:131300
84700	MYO18B	HP:0000347	Micrognathia	1/2	OMIM:616549
84700	MYO18B	HP:0000311	Round face	2/7	OMIM:615777
84700	MYO18B	HP:0002970	Genu varum	-	OMIM:615777
84700	MYO18B	HP:0001638	Cardiomyopathy	-	OMIM:616549
84700	MYO18B	HP:0000303	Mandibular prognathia	-	OMIM:131300
84700	MYO18B	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
84700	MYO18B	HP:0000470	Short neck	1/7	OMIM:615777
84700	MYO18B	HP:0000470	Short neck	-	OMIM:616549
84700	MYO18B	HP:0000465	Webbed neck	2/2	OMIM:616549
84700	MYO18B	HP:0001769	Broad foot	HP:0040283	OMIM:615777
84700	MYO18B	HP:0001763	Pes planus	1/7	OMIM:615777
84700	MYO18B	HP:0000414	Bulbous nose	2/2	OMIM:616549
84700	MYO18B	HP:0000430	Underdeveloped nasal alae	1/2	OMIM:616549
84700	MYO18B	HP:0001840	Metatarsus adductus	-	OMIM:615777
84700	MYO18B	HP:0000520	Proptosis	2/4	OMIM:131300
84700	MYO18B	HP:0000520	Proptosis	7/7	OMIM:615777
84700	MYO18B	HP:0000508	Ptosis	2/2	OMIM:616549
84700	MYO18B	HP:0000592	Blue sclerae	2/7	OMIM:615777
84700	MYO18B	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
84700	MYO18B	HP:0012514	Lower limb pain	4/4	OMIM:131300
84701	COX4I2	HP:0001263	Global developmental delay	-	OMIM:612714
84701	COX4I2	HP:0002570	Steatorrhea	3/5	OMIM:612714
84701	COX4I2	HP:0010972	Anemia of inadequate production	5/5	OMIM:612714
84701	COX4I2	HP:0000007	Autosomal recessive inheritance	-	OMIM:612714
84701	COX4I2	HP:0002750	Delayed skeletal maturation	3/5	OMIM:612714
84701	COX4I2	HP:0002099	Asthma	4/5	OMIM:612714
84701	COX4I2	HP:0003593	Infantile onset	2/5	OMIM:612714
84701	COX4I2	HP:0002240	Hepatomegaly	2/5	OMIM:612714
84701	COX4I2	HP:0003623	Neonatal onset	3/5	OMIM:612714
84701	COX4I2	HP:0000670	Carious teeth	3/5	OMIM:612714
84701	COX4I2	HP:0004395	Malnutrition	-	OMIM:612714
84701	COX4I2	HP:0003193	Allergic rhinitis	1/5	OMIM:612714
84701	COX4I2	HP:0004490	Calvarial hyperostosis	3/5	OMIM:612714
84701	COX4I2	HP:0000988	Skin rash	3/5	OMIM:612714
84701	COX4I2	HP:0000952	Jaundice	1/5	OMIM:612714
84701	COX4I2	HP:0000938	Osteopenia	3/5	OMIM:612714
84701	COX4I2	HP:0001508	Failure to thrive	5/5	OMIM:612714
84701	COX4I2	HP:0001738	Exocrine pancreatic insufficiency	4/5	OMIM:612714
84701	COX4I2	HP:0001744	Splenomegaly	2/5	OMIM:612714
84705	GTPBP3	HP:0002415	Leukodystrophy	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0001250	Seizure	2/12	OMIM:616198
84705	GTPBP3	HP:0001250	Seizure	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0001252	Hypotonia	4/12	OMIM:616198
84705	GTPBP3	HP:0001263	Global developmental delay	4/12	OMIM:616198
84705	GTPBP3	HP:0001263	Global developmental delay	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0000007	Autosomal recessive inheritance	-	OMIM:616198
84705	GTPBP3	HP:0008947	Floppy infant	HP:0040282	ORPHA:444013
84705	GTPBP3	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0003388	Easy fatigability	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0002151	Increased circulating lactate concentration	12/12	OMIM:616198
84705	GTPBP3	HP:0011923	Decreased activity of mitochondrial complex I	9/10	OMIM:616198
84705	GTPBP3	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0003593	Infantile onset	3/11	OMIM:616198
84705	GTPBP3	HP:0003577	Congenital onset	3/11	OMIM:616198
84705	GTPBP3	HP:0008347	Decreased activity of mitochondrial complex IV	8/10	OMIM:616198
84705	GTPBP3	HP:0008347	Decreased activity of mitochondrial complex IV	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0011968	Feeding difficulties	1/12	OMIM:616198
84705	GTPBP3	HP:0003688	Cytochrome C oxidase-negative muscle fibers	4/4	OMIM:616198
84705	GTPBP3	HP:0003623	Neonatal onset	1/11	OMIM:616198
84705	GTPBP3	HP:0003621	Juvenile onset	1/11	OMIM:616198
84705	GTPBP3	HP:0012696	Abnormal thalamic MRI signal intensity	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0012666	Severely reduced left ventricular ejection fraction	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0012747	Abnormal brainstem MRI signal intensity	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0012751	Abnormal basal ganglia MRI signal intensity	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:444013
84705	GTPBP3	HP:0011463	Childhood onset	3/11	OMIM:616198
84705	GTPBP3	HP:0012763	Paroxysmal dyspnea	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:444013
84705	GTPBP3	HP:0003128	Lactic acidosis	12/12	OMIM:616198
84705	GTPBP3	HP:0010307	Stridor	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0000961	Cyanosis	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0011675	Arrhythmia	1/12	OMIM:616198
84705	GTPBP3	HP:0002878	Respiratory failure	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0001508	Failure to thrive	1/12	OMIM:616198
84705	GTPBP3	HP:0001508	Failure to thrive	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0001511	Intrauterine growth retardation	1/12	OMIM:616198
84705	GTPBP3	HP:0001667	Right ventricular hypertrophy	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0001644	Dilated cardiomyopathy	1/11	OMIM:616198
84705	GTPBP3	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:444013
84705	GTPBP3	HP:0001639	Hypertrophic cardiomyopathy	7/11	OMIM:616198
84705	GTPBP3	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0001635	Congestive heart failure	1/12	OMIM:616198
84705	GTPBP3	HP:0001716	Wolff-Parkinson-White syndrome	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0001712	Left ventricular hypertrophy	HP:0040283	ORPHA:444013
84705	GTPBP3	HP:0000505	Visual impairment	1/12	OMIM:616198
84705	GTPBP3	HP:0000505	Visual impairment	HP:0040283	ORPHA:444013
84706	GPT2	HP:0001298	Encephalopathy	-	OMIM:616281
84706	GPT2	HP:0001276	Hypertonia	13/16	OMIM:616281
84706	GPT2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:477673
84706	GPT2	HP:0001250	Seizure	5/14	OMIM:616281
84706	GPT2	HP:0001250	Seizure	HP:0040283	ORPHA:477673
84706	GPT2	HP:0001252	Hypotonia	7/8	OMIM:616281
84706	GPT2	HP:0001249	Intellectual disability	14/14	OMIM:616281
84706	GPT2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:477673
84706	GPT2	HP:0001260	Dysarthria	10/12	OMIM:616281
84706	GPT2	HP:0001260	Dysarthria	HP:0040282	ORPHA:477673
84706	GPT2	HP:0001263	Global developmental delay	3/3	OMIM:616281
84706	GPT2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:477673
84706	GPT2	HP:0001258	Spastic paraplegia	HP:0040282	ORPHA:477673
84706	GPT2	HP:0001257	Spasticity	10/13	OMIM:616281
84706	GPT2	HP:0001371	Flexion contracture	3/14	OMIM:616281
84706	GPT2	HP:0001347	Hyperreflexia	12/15	OMIM:616281
84706	GPT2	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:477673
84706	GPT2	HP:0001344	Absent speech	3/3	OMIM:616281
84706	GPT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616281
84706	GPT2	HP:0001337	Tremor	HP:0040283	ORPHA:477673
84706	GPT2	HP:0002069	Bilateral tonic-clonic seizure	1/3	OMIM:616281
84706	GPT2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:616281
84706	GPT2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:477673
84706	GPT2	HP:0003487	Babinski sign	HP:0040282	ORPHA:477673
84706	GPT2	HP:0002121	Generalized non-motor (absence) seizure	1/3	OMIM:616281
84706	GPT2	HP:0002136	Broad-based gait	HP:0040282	ORPHA:477673
84706	GPT2	HP:0003593	Infantile onset	3/3	OMIM:616281
84706	GPT2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:477673
84706	GPT2	HP:0003676	Progressive	-	OMIM:616281
84706	GPT2	HP:0002307	Drooling	11/12	OMIM:616281
84706	GPT2	HP:0002307	Drooling	HP:0040282	ORPHA:477673
84706	GPT2	HP:0006829	Severe muscular hypotonia	HP:0040282	ORPHA:477673
84706	GPT2	HP:0000601	Hypotelorism	1/3	OMIM:616281
84706	GPT2	HP:0000601	Hypotelorism	HP:0040282	ORPHA:477673
84706	GPT2	HP:0011400	Abnormal CNS myelination	HP:0040283	ORPHA:477673
84706	GPT2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:477673
84706	GPT2	HP:0011470	Nasogastric tube feeding in infancy	HP:0040282	ORPHA:477673
84706	GPT2	HP:0000286	Epicanthus	1/3	OMIM:616281
84706	GPT2	HP:0000252	Microcephaly	16/17	OMIM:616281
84706	GPT2	HP:0000252	Microcephaly	HP:0040282	ORPHA:477673
84706	GPT2	HP:0000218	High palate	1/3	OMIM:616281
84706	GPT2	HP:0001508	Failure to thrive	1/3	OMIM:616281
84706	GPT2	HP:0001508	Failure to thrive	HP:0040283	ORPHA:477673
84706	GPT2	HP:0000358	Posteriorly rotated ears	1/3	OMIM:616281
84706	GPT2	HP:0000369	Low-set ears	1/3	OMIM:616281
84706	GPT2	HP:0000369	Low-set ears	HP:0040282	ORPHA:477673
84706	GPT2	HP:0000341	Narrow forehead	2/3	OMIM:616281
84706	GPT2	HP:0000341	Narrow forehead	HP:0040283	ORPHA:477673
84706	GPT2	HP:0005484	Secondary microcephaly	7/7	OMIM:616281
84720	PIGO	HP:0001195	Single umbilical artery	HP:0040283	ORPHA:247262
84720	PIGO	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:247262
84720	PIGO	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:247262
84720	PIGO	HP:0001288	Gait disturbance	HP:0040283	ORPHA:247262
84720	PIGO	HP:0001250	Seizure	1/3	OMIM:614749
84720	PIGO	HP:0001250	Seizure	HP:0040281	ORPHA:247262
84720	PIGO	HP:0001252	Hypotonia	3/3	OMIM:614749
84720	PIGO	HP:0001251	Ataxia	HP:0040283	ORPHA:247262
84720	PIGO	HP:0001249	Intellectual disability	3/3	OMIM:614749
84720	PIGO	HP:0001249	Intellectual disability	HP:0040282	ORPHA:247262
84720	PIGO	HP:0001263	Global developmental delay	3/3	OMIM:614749
84720	PIGO	HP:0001263	Global developmental delay	HP:0040281	ORPHA:247262
84720	PIGO	HP:0002558	Supernumerary nipple	HP:0040283	ORPHA:247262
84720	PIGO	HP:0006118	Shortening of all distal phalanges of the fingers	HP:0040281	ORPHA:247262
84720	PIGO	HP:0006118	Shortening of all distal phalanges of the fingers	3/3	OMIM:614749
84720	PIGO	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000076	Vesicoureteral reflux	1/3	OMIM:614749
84720	PIGO	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:247262
84720	PIGO	HP:0002696	Abnormal parietal bone morphology	HP:0040283	ORPHA:247262
84720	PIGO	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:247262
84720	PIGO	HP:0001357	Plagiocephaly	1/3	OMIM:614749
84720	PIGO	HP:0000007	Autosomal recessive inheritance	-	OMIM:614749
84720	PIGO	HP:0001336	Myoclonus	HP:0040283	ORPHA:247262
84720	PIGO	HP:0002650	Scoliosis	HP:0040283	ORPHA:247262
84720	PIGO	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000193	Bifid uvula	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000175	Cleft palate	-	OMIM:614749
84720	PIGO	HP:0008947	Floppy infant	HP:0040281	ORPHA:247262
84720	PIGO	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:247262
84720	PIGO	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:247262
84720	PIGO	HP:0002025	Anal stenosis	2/3	OMIM:614749
84720	PIGO	HP:0002023	Anal atresia	1/3	OMIM:614749
84720	PIGO	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:247262
84720	PIGO	HP:0002119	Ventriculomegaly	1/3	OMIM:614749
84720	PIGO	HP:0003577	Congenital onset	3/3	OMIM:614749
84720	PIGO	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:247262
84720	PIGO	HP:0002251	Aganglionic megacolon	1/3	OMIM:614749
84720	PIGO	HP:0002392	EEG with polyspike wave complexes	HP:0040283	ORPHA:247262
84720	PIGO	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:247262
84720	PIGO	HP:0001009	Telangiectasia	HP:0040283	ORPHA:247262
84720	PIGO	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:247262
84720	PIGO	HP:0010804	Tented upper lip vermilion	3/3	OMIM:614749
84720	PIGO	HP:0004969	Peripheral pulmonary artery stenosis	1/3	OMIM:614749
84720	PIGO	HP:0006808	Cerebral hypomyelination	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000637	Long palpebral fissure	3/3	OMIM:614749
84720	PIGO	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:247262
84720	PIGO	HP:0010055	Broad hallux	3/3	OMIM:614749
84720	PIGO	HP:0011326	Anterior plagiocephaly	1/3	OMIM:614749
84720	PIGO	HP:0011316	Left unicoronal synostosis	1/3	OMIM:614749
84720	PIGO	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:247262
84720	PIGO	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:247262
84720	PIGO	HP:0031936	Delayed ability to walk	3/3	OMIM:614749
84720	PIGO	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000750	Delayed speech and language development	3/3	OMIM:614749
84720	PIGO	HP:0000729	Autistic behavior	HP:0040283	ORPHA:247262
84720	PIGO	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:247262
84720	PIGO	HP:0003196	Short nose	3/3	OMIM:614749
84720	PIGO	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040281	ORPHA:247262
84720	PIGO	HP:0003155	Elevated circulating alkaline phosphatase concentration	3/3	OMIM:614749
84720	PIGO	HP:0040194	Increased head circumference	HP:0040283	ORPHA:247262
84720	PIGO	HP:0040195	Decreased head circumference	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000286	Epicanthus	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000280	Coarse facial features	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000289	Broad philtrum	HP:0040283	ORPHA:247262
84720	PIGO	HP:0030084	Clinodactyly	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000252	Microcephaly	1/3	OMIM:614749
84720	PIGO	HP:0000248	Brachycephaly	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000218	High palate	HP:0040283	ORPHA:247262
84720	PIGO	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:247262
84720	PIGO	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:247262
84720	PIGO	HP:0001510	Growth delay	HP:0040282	ORPHA:247262
84720	PIGO	HP:0001510	Growth delay	3/3	OMIM:614749
84720	PIGO	HP:0000378	Cupped ear	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000391	Thickened helices	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000365	Hearing impairment	-	OMIM:614749
84720	PIGO	HP:0000347	Micrognathia	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000316	Hypertelorism	HP:0040281	ORPHA:247262
84720	PIGO	HP:0000316	Hypertelorism	3/3	OMIM:614749
84720	PIGO	HP:0000311	Round face	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000322	Short philtrum	HP:0040283	ORPHA:247262
84720	PIGO	HP:0001631	Atrial septal defect	1/3	OMIM:614749
84720	PIGO	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:247262
84720	PIGO	HP:0001792	Small nail	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000455	Broad nasal tip	3/3	OMIM:614749
84720	PIGO	HP:0000470	Short neck	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000414	Bulbous nose	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:247262
84720	PIGO	HP:0000431	Wide nasal bridge	3/3	OMIM:614749
84720	PIGO	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:247262
84720	PIGO	HP:0001804	Hypoplastic fingernail	3/3	OMIM:614749
84720	PIGO	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000582	Upslanted palpebral fissure	-	OMIM:614749
84720	PIGO	HP:0000594	Shallow anterior chamber	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000565	Esotropia	HP:0040283	ORPHA:247262
84720	PIGO	HP:0000540	Hypermetropia	HP:0040283	ORPHA:247262
84733	CBX2	HP:0008715	Testicular dysgenesis	HP:0040281	ORPHA:242
84733	CBX2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:242
84733	CBX2	HP:0000037	Male pseudohermaphroditism	HP:0040281	ORPHA:242
84733	CBX2	HP:0000055	Abnormal female external genitalia morphology	0/1	OMIM:613080
84733	CBX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613080
84733	CBX2	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:242
84733	CBX2	HP:0011731	Abnormality of circulating cortisol level	0/1	OMIM:613080
84733	CBX2	HP:0008232	Elevated circulating follicle stimulating hormone level	1/1	OMIM:613080
84733	CBX2	HP:0003577	Congenital onset	1/1	OMIM:613080
84733	CBX2	HP:0012245	Sex reversal	1/1	OMIM:613080
84733	CBX2	HP:0030345	Abnormal circulating luteinizing hormone concentration	0/1	OMIM:613080
84816	RTN4IP1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
84816	RTN4IP1	HP:0001256	Intellectual disability, mild	2/6	OMIM:616732
84816	RTN4IP1	HP:0001251	Ataxia	2/6	OMIM:616732
84816	RTN4IP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
84816	RTN4IP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616732
84816	RTN4IP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
84816	RTN4IP1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
84816	RTN4IP1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
84816	RTN4IP1	HP:0007663	Reduced visual acuity	6/6	OMIM:616732
84816	RTN4IP1	HP:0003621	Juvenile onset	8/19	OMIM:180100
84816	RTN4IP1	HP:0000639	Nystagmus	2/6	OMIM:616732
84816	RTN4IP1	HP:0000613	Photophobia	5/6	OMIM:616732
84816	RTN4IP1	HP:0000603	Central scotoma	2/5	OMIM:616732
84816	RTN4IP1	HP:0000662	Nyctalopia	26/28	OMIM:180100
84816	RTN4IP1	HP:0030644	Blind-spot enlargement	1/5	OMIM:616732
84816	RTN4IP1	HP:0011463	Childhood onset	3/19	OMIM:180100
84816	RTN4IP1	HP:0011463	Childhood onset	-	OMIM:616732
84816	RTN4IP1	HP:0011462	Young adult onset	8/19	OMIM:180100
84816	RTN4IP1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
84816	RTN4IP1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
84816	RTN4IP1	HP:0032794	Myoclonic seizure	1/6	OMIM:616732
84816	RTN4IP1	HP:0007976	Cerulean cataract	1/6	OMIM:616732
84816	RTN4IP1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
84816	RTN4IP1	HP:0000575	Scotoma	5/18	OMIM:180100
84816	RTN4IP1	HP:0000551	Color vision defect	4/4	OMIM:616732
84816	RTN4IP1	HP:0000543	Optic disc pallor	6/6	OMIM:616732
84816	RTN4IP1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
84816	RTN4IP1	HP:0000545	Myopia	-	OMIM:180100
84818	IL17RC	HP:0100825	Cheilitis	HP:0040281	ORPHA:1334
84818	IL17RC	HP:0001250	Seizure	HP:0040283	ORPHA:1334
84818	IL17RC	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1334
84818	IL17RC	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:1334
84818	IL17RC	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:1334
84818	IL17RC	HP:0000007	Autosomal recessive inheritance	-	OMIM:616445
84818	IL17RC	HP:0000159	Abnormal lip morphology	HP:0040281	ORPHA:1334
84818	IL17RC	HP:0000142	Abnormal vagina morphology	HP:0040282	ORPHA:1334
84818	IL17RC	HP:0000153	Abnormality of the mouth	HP:0040281	ORPHA:1334
84818	IL17RC	HP:0012115	Hepatitis	HP:0040283	ORPHA:1334
84818	IL17RC	HP:0002719	Recurrent infections	HP:0040281	ORPHA:1334
84818	IL17RC	HP:0002715	Abnormality of the immune system	HP:0040281	ORPHA:1334
84818	IL17RC	HP:0002728	Chronic mucocutaneous candidiasis	3/3	OMIM:616445
84818	IL17RC	HP:0002105	Hemoptysis	HP:0040283	ORPHA:1334
84818	IL17RC	HP:0003593	Infantile onset	2/3	OMIM:616445
84818	IL17RC	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:1334
84818	IL17RC	HP:0033351	Candida esophagitis	1/3	OMIM:616445
84818	IL17RC	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:1334
84818	IL17RC	HP:0200034	Papule	HP:0040282	ORPHA:1334
84818	IL17RC	HP:0200042	Skin ulcer	HP:0040281	ORPHA:1334
84818	IL17RC	HP:0010783	Erythema	HP:0040281	ORPHA:1334
84818	IL17RC	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:1334
84818	IL17RC	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:1334
84818	IL17RC	HP:0004370	Abnormality of temperature regulation	HP:0040283	ORPHA:1334
84818	IL17RC	HP:0012735	Cough	HP:0040283	ORPHA:1334
84818	IL17RC	HP:0011463	Childhood onset	1/3	OMIM:616445
84818	IL17RC	HP:0000790	Hematuria	HP:0040283	ORPHA:1334
84818	IL17RC	HP:0000989	Pruritus	HP:0040283	ORPHA:1334
84818	IL17RC	HP:0000988	Skin rash	HP:0040281	ORPHA:1334
84818	IL17RC	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:1334
84818	IL17RC	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:1334
84818	IL17RC	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:1334
84818	IL17RC	HP:0012203	Onychomycosis	1/3	OMIM:616445
84818	IL17RC	HP:0030016	Dyspareunia	HP:0040282	ORPHA:1334
84818	IL17RC	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:1334
84818	IL17RC	HP:0011107	Recurrent aphthous stomatitis	1/3	OMIM:616445
84818	IL17RC	HP:0001821	Broad nail	HP:0040281	ORPHA:1334
84818	IL17RC	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1334
84823	LMNB2	HP:0001182	Tapered finger	1/5	OMIM:619180
84823	LMNB2	HP:0009879	Simplified gyral pattern	1/2	OMIM:616540
84823	LMNB2	HP:0009879	Simplified gyral pattern	1/5	OMIM:619180
84823	LMNB2	HP:0003745	Sporadic	-	OMIM:608709
84823	LMNB2	HP:0003700	Generalized amyotrophy	1/2	OMIM:616540
84823	LMNB2	HP:0001274	Agenesis of corpus callosum	1/2	OMIM:616540
84823	LMNB2	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:79087
84823	LMNB2	HP:0100827	Increased total lymphocyte count	HP:0040282	ORPHA:79087
84823	LMNB2	HP:0001250	Seizure	HP:0040282	ORPHA:79087
84823	LMNB2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:79087
84823	LMNB2	HP:0001263	Global developmental delay	6/6	OMIM:619180
84823	LMNB2	HP:0001263	Global developmental delay	1/2	OMIM:616540
84823	LMNB2	HP:0032327	Interhemispheric cyst	1/2	OMIM:616540
84823	LMNB2	HP:0000093	Proteinuria	HP:0040283	ORPHA:79087
84823	LMNB2	HP:0000093	Proteinuria	-	OMIM:608709
84823	LMNB2	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:79087
84823	LMNB2	HP:0001397	Hepatic steatosis	1/1	OMIM:608709
84823	LMNB2	HP:0000054	Micropenis	1/3	OMIM:619180
84823	LMNB2	HP:0001382	Joint hypermobility	1/5	OMIM:619180
84823	LMNB2	HP:0000028	Cryptorchidism	1/3	OMIM:619180
84823	LMNB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616540
84823	LMNB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:608709
84823	LMNB2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619180
84823	LMNB2	HP:0001336	Myoclonus	1/2	OMIM:616540
84823	LMNB2	HP:0002650	Scoliosis	2/2	OMIM:616540
84823	LMNB2	HP:0000171	Microglossia	1/2	OMIM:616540
84823	LMNB2	HP:0000147	Polycystic ovaries	-	OMIM:608709
84823	LMNB2	HP:0000100	Nephrotic syndrome	-	OMIM:608709
84823	LMNB2	HP:0002719	Recurrent infections	-	OMIM:608709
84823	LMNB2	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:79087
84823	LMNB2	HP:0002069	Bilateral tonic-clonic seizure	2/3	OMIM:616540
84823	LMNB2	HP:0002066	Gait ataxia	2/2	OMIM:616540
84823	LMNB2	HP:0100578	Lipoatrophy	HP:0040281	ORPHA:79087
84823	LMNB2	HP:0002123	Generalized myoclonic seizure	1/2	OMIM:616540
84823	LMNB2	HP:0002119	Ventriculomegaly	1/5	OMIM:619180
84823	LMNB2	HP:0002119	Ventriculomegaly	1/2	OMIM:616540
84823	LMNB2	HP:0002133	Status epilepticus	1/2	OMIM:616540
84823	LMNB2	HP:0003577	Congenital onset	6/6	OMIM:619180
84823	LMNB2	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:79087
84823	LMNB2	HP:0002359	Frequent falls	1/2	OMIM:616540
84823	LMNB2	HP:0003676	Progressive	-	OMIM:616540
84823	LMNB2	HP:0001007	Hirsutism	-	OMIM:608709
84823	LMNB2	HP:0009778	Short thumb	1/2	OMIM:616540
84823	LMNB2	HP:0002307	Drooling	1/5	OMIM:619180
84823	LMNB2	HP:0003621	Juvenile onset	1/2	OMIM:616540
84823	LMNB2	HP:0003621	Juvenile onset	1/1	OMIM:608709
84823	LMNB2	HP:0004209	Clinodactyly of the 5th finger	2/5	OMIM:619180
84823	LMNB2	HP:0009056	Loss of subcutaneous adipose tissue from upper limbs	1/1	OMIM:608709
84823	LMNB2	HP:0009019	Progressive loss of facial adipose tissue	1/1	OMIM:608709
84823	LMNB2	HP:0009002	Loss of truncal subcutaneous adipose tissue	1/1	OMIM:608709
84823	LMNB2	HP:0031936	Delayed ability to walk	5/5	OMIM:619180
84823	LMNB2	HP:0000750	Delayed speech and language development	4/4	OMIM:619180
84823	LMNB2	HP:0011463	Childhood onset	1/2	OMIM:616540
84823	LMNB2	HP:0011451	Primary microcephaly	6/6	OMIM:619180
84823	LMNB2	HP:0000793	Membranoproliferative glomerulonephritis	-	OMIM:608709
84823	LMNB2	HP:0000790	Hematuria	-	OMIM:608709
84823	LMNB2	HP:0003119	Abnormal circulating lipid concentration	-	OMIM:608709
84823	LMNB2	HP:0003198	Myopathy	HP:0040282	ORPHA:79087
84823	LMNB2	HP:0000855	Insulin resistance	HP:0040283	ORPHA:79087
84823	LMNB2	HP:0000819	Diabetes mellitus	-	OMIM:608709
84823	LMNB2	HP:0034360	Action myoclonus	1/2	OMIM:616540
84823	LMNB2	HP:0009381	Short finger	2/5	OMIM:619180
84823	LMNB2	HP:0002829	Arthralgia	HP:0040283	ORPHA:79087
84823	LMNB2	HP:0000243	Trigonocephaly	1/5	OMIM:619180
84823	LMNB2	HP:0030043	Hip subluxation	1/5	OMIM:619180
84823	LMNB2	HP:0002907	Microscopic hematuria	HP:0040283	ORPHA:79087
84823	LMNB2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:79087
84823	LMNB2	HP:0002960	Autoimmunity	HP:0040282	ORPHA:79087
84823	LMNB2	HP:0005328	Progeroid facial appearance	HP:0040282	ORPHA:79087
84823	LMNB2	HP:0012450	Chronic constipation	2/5	OMIM:619180
84823	LMNB2	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:79087
84823	LMNB2	HP:0005421	Decreased circulating complement C3 concentration	-	OMIM:608709
84823	LMNB2	HP:0001840	Metatarsus adductus	1/5	OMIM:619180
84823	LMNB2	HP:0012510	Extra-axial cerebrospinal fluid accumulation	1/5	OMIM:619180
84833	ATP5MK	HP:0002445	Tetraplegia	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0001298	Encephalopathy	HP:0040282	ORPHA:254913
84833	ATP5MK	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0001270	Motor delay	HP:0040282	ORPHA:254913
84833	ATP5MK	HP:0001254	Lethargy	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0001254	Lethargy	2/4	OMIM:618683
84833	ATP5MK	HP:0001250	Seizure	HP:0040282	ORPHA:254913
84833	ATP5MK	HP:0001252	Hypotonia	HP:0040282	ORPHA:254913
84833	ATP5MK	HP:0001251	Ataxia	3/4	OMIM:618683
84833	ATP5MK	HP:0001251	Ataxia	HP:0040282	ORPHA:254913
84833	ATP5MK	HP:0001260	Dysarthria	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0001258	Spastic paraplegia	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0003819	Death in childhood	-	OMIM:618683
84833	ATP5MK	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0001347	Hyperreflexia	1/4	OMIM:618683
84833	ATP5MK	HP:0001332	Dystonia	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0001324	Muscle weakness	HP:0040282	ORPHA:254913
84833	ATP5MK	HP:0000007	Autosomal recessive inheritance	-	OMIM:618683
84833	ATP5MK	HP:0000135	Hypogonadism	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0003348	Hyperalaninemia	HP:0040282	ORPHA:254913
84833	ATP5MK	HP:0002098	Respiratory distress	HP:0040282	ORPHA:254913
84833	ATP5MK	HP:0002067	Bradykinesia	1/4	OMIM:618683
84833	ATP5MK	HP:0002072	Chorea	2/4	OMIM:618683
84833	ATP5MK	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0003535	3-Methylglutaconic aciduria	HP:0040282	ORPHA:254913
84833	ATP5MK	HP:0002376	Developmental regression	4/4	OMIM:618683
84833	ATP5MK	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:254913
84833	ATP5MK	HP:0000639	Nystagmus	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0000648	Optic atrophy	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0000618	Blindness	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0000602	Ophthalmoplegia	HP:0040284	ORPHA:254913
84833	ATP5MK	HP:0000602	Ophthalmoplegia	2/4	OMIM:618683
84833	ATP5MK	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:254913
84833	ATP5MK	HP:0004322	Short stature	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:254913
84833	ATP5MK	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:254913
84833	ATP5MK	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0011675	Arrhythmia	HP:0040282	ORPHA:254913
84833	ATP5MK	HP:0000252	Microcephaly	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0032794	Myoclonic seizure	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:254913
84833	ATP5MK	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:254913
84833	ATP5MK	HP:0001639	Hypertrophic cardiomyopathy	1/4	OMIM:618683
84833	ATP5MK	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0000486	Strabismus	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0000518	Cataract	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:254913
84833	ATP5MK	HP:0000508	Ptosis	HP:0040283	ORPHA:254913
84839	RAX2	HP:0001133	Constriction of peripheral visual field	5/5	OMIM:620102
84839	RAX2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
84839	RAX2	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
84839	RAX2	HP:0007401	Macular atrophy	-	OMIM:610381
84839	RAX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
84839	RAX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620102
84839	RAX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:610381
84839	RAX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
84839	RAX2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
84839	RAX2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
84839	RAX2	HP:0007663	Reduced visual acuity	6/6	OMIM:620102
84839	RAX2	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
84839	RAX2	HP:0003596	Middle age onset	3/6	OMIM:620102
84839	RAX2	HP:0003621	Juvenile onset	8/19	OMIM:180100
84839	RAX2	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
84839	RAX2	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
84839	RAX2	HP:0000613	Photophobia	HP:0040283	OMIM:610381
84839	RAX2	HP:0000608	Macular degeneration	-	OMIM:610381
84839	RAX2	HP:0000608	Macular degeneration	-	OMIM:613757
84839	RAX2	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
84839	RAX2	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
84839	RAX2	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
84839	RAX2	HP:0000662	Nyctalopia	26/28	OMIM:180100
84839	RAX2	HP:0030629	Perifoveal ring of hyperautofluorescence	2/6	OMIM:620102
84839	RAX2	HP:0011463	Childhood onset	3/19	OMIM:180100
84839	RAX2	HP:0011463	Childhood onset	1/6	OMIM:620102
84839	RAX2	HP:0011462	Young adult onset	8/19	OMIM:180100
84839	RAX2	HP:0011504	Bull's eye maculopathy	-	OMIM:610381
84839	RAX2	HP:0000980	Pallor	-	OMIM:610381
84839	RAX2	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
84839	RAX2	HP:0007737	Bone spicule pigmentation of the retina	4/6	OMIM:620102
84839	RAX2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
84839	RAX2	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
84839	RAX2	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
84839	RAX2	HP:0007843	Attenuation of retinal blood vessels	6/6	OMIM:620102
84839	RAX2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
84839	RAX2	HP:0007924	Slow decrease in visual acuity	-	OMIM:610381
84839	RAX2	HP:0025710	Late young adult onset	2/6	OMIM:620102
84839	RAX2	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
84839	RAX2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
84839	RAX2	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
84839	RAX2	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
84839	RAX2	HP:0000575	Scotoma	5/18	OMIM:180100
84839	RAX2	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
84839	RAX2	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:610381
84839	RAX2	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
84839	RAX2	HP:0000543	Optic disc pallor	5/6	OMIM:620102
84839	RAX2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
84839	RAX2	HP:0000545	Myopia	-	OMIM:180100
84842	HPDL	HP:0002490	Increased CSF lactate	7/12	OMIM:619026
84842	HPDL	HP:0001270	Motor delay	12/12	OMIM:619026
84842	HPDL	HP:0001250	Seizure	9/12	OMIM:619026
84842	HPDL	HP:0001249	Intellectual disability	12/12	OMIM:619026
84842	HPDL	HP:0001258	Spastic paraplegia	12/12	OMIM:619026
84842	HPDL	HP:0001258	Spastic paraplegia	5/5	OMIM:619027
84842	HPDL	HP:0002530	Axial dystonia	2/12	OMIM:619026
84842	HPDL	HP:0002500	Abnormal cerebral white matter morphology	12/12	OMIM:619026
84842	HPDL	HP:0001371	Flexion contracture	5/12	OMIM:619026
84842	HPDL	HP:0000012	Urinary urgency	1/5	OMIM:619027
84842	HPDL	HP:0000007	Autosomal recessive inheritance	-	OMIM:619026
84842	HPDL	HP:0000007	Autosomal recessive inheritance	-	OMIM:619027
84842	HPDL	HP:0002650	Scoliosis	2/12	OMIM:619026
84842	HPDL	HP:0003326	Myalgia	1/5	OMIM:619027
84842	HPDL	HP:0002015	Dysphagia	1/5	OMIM:619027
84842	HPDL	HP:0002066	Gait ataxia	2/5	OMIM:619027
84842	HPDL	HP:0003394	Muscle spasm	3/5	OMIM:619027
84842	HPDL	HP:0002079	Hypoplasia of the corpus callosum	7/11	OMIM:619026
84842	HPDL	HP:0003487	Babinski sign	3/5	OMIM:619027
84842	HPDL	HP:0002151	Increased circulating lactate concentration	6/12	OMIM:619026
84842	HPDL	HP:0003448	Decreased sensory nerve conduction velocity	3/8	OMIM:619026
84842	HPDL	HP:0003431	Decreased motor nerve conduction velocity	1/8	OMIM:619026
84842	HPDL	HP:0003401	Paresthesia	1/5	OMIM:619027
84842	HPDL	HP:0003593	Infantile onset	8/12	OMIM:619026
84842	HPDL	HP:0003577	Congenital onset	2/12	OMIM:619026
84842	HPDL	HP:0004887	Respiratory failure requiring assisted ventilation	5/12	OMIM:619026
84842	HPDL	HP:0003557	Increased variability in muscle fiber diameter	3/5	OMIM:619026
84842	HPDL	HP:0020045	Esodeviation	1/12	OMIM:619026
84842	HPDL	HP:0020049	Exodeviation	1/12	OMIM:619026
84842	HPDL	HP:0002395	Lower limb hyperreflexia	5/5	OMIM:619027
84842	HPDL	HP:0002376	Developmental regression	6/12	OMIM:619026
84842	HPDL	HP:0003676	Progressive	11/12	OMIM:619026
84842	HPDL	HP:0003676	Progressive	5/5	OMIM:619027
84842	HPDL	HP:0002317	Unsteady gait	5/5	OMIM:619027
84842	HPDL	HP:0003623	Neonatal onset	1/12	OMIM:619026
84842	HPDL	HP:0002307	Drooling	1/12	OMIM:619026
84842	HPDL	HP:0003621	Juvenile onset	5/5	OMIM:619027
84842	HPDL	HP:0000639	Nystagmus	2/12	OMIM:619026
84842	HPDL	HP:0012707	Elevated brain lactate level by MRS	3/4	OMIM:619026
84842	HPDL	HP:0011463	Childhood onset	1/12	OMIM:619026
84842	HPDL	HP:0000278	Retrognathia	1/12	OMIM:619026
84842	HPDL	HP:0000252	Microcephaly	9/12	OMIM:619026
84842	HPDL	HP:0000218	High palate	2/12	OMIM:619026
84842	HPDL	HP:0001531	Failure to thrive in infancy	3/12	OMIM:619026
84842	HPDL	HP:0001510	Growth delay	4/12	OMIM:619026
84842	HPDL	HP:0000343	Long philtrum	1/12	OMIM:619026
84842	HPDL	HP:0000316	Hypertelorism	1/12	OMIM:619026
84842	HPDL	HP:0000463	Anteverted nares	2/12	OMIM:619026
84842	HPDL	HP:0000470	Short neck	1/12	OMIM:619026
84842	HPDL	HP:0000527	Long eyelashes	2/12	OMIM:619026
84842	HPDL	HP:0000505	Visual impairment	8/12	OMIM:619026
84842	HPDL	HP:0000565	Esotropia	2/12	OMIM:619026
84842	HPDL	HP:0000544	External ophthalmoplegia	1/12	OMIM:619026
84868	HAVCR2	HP:0025143	Chills	HP:0040282	ORPHA:86884
84868	HAVCR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618398
84868	HAVCR2	HP:0025474	Erythematous plaque	HP:0040282	ORPHA:86884
84868	HAVCR2	HP:0012156	Hemophagocytosis	HP:0040282	ORPHA:86884
84868	HAVCR2	HP:0012156	Hemophagocytosis	HP:0040284	OMIM:618398
84868	HAVCR2	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:86884
84868	HAVCR2	HP:0034403	Subcutaneous panniculitis-like T-cell lymphoma	16/16	OMIM:618398
84868	HAVCR2	HP:0002155	Hypertriglyceridemia	-	OMIM:618398
84868	HAVCR2	HP:0011900	Hypofibrinogenemia	-	OMIM:618398
84868	HAVCR2	HP:0003596	Middle age onset	2/16	OMIM:618398
84868	HAVCR2	HP:0003584	Late onset	2/16	OMIM:618398
84868	HAVCR2	HP:0200042	Skin ulcer	HP:0040282	ORPHA:86884
84868	HAVCR2	HP:0003621	Juvenile onset	7/16	OMIM:618398
84868	HAVCR2	HP:0001945	Fever	-	OMIM:618398
84868	HAVCR2	HP:0001945	Fever	HP:0040282	ORPHA:86884
84868	HAVCR2	HP:0001903	Anemia	HP:0040284	OMIM:618398
84868	HAVCR2	HP:0011463	Childhood onset	1/16	OMIM:618398
84868	HAVCR2	HP:0011462	Young adult onset	4/16	OMIM:618398
84868	HAVCR2	HP:0003281	Increased circulating ferritin concentration	-	OMIM:618398
84868	HAVCR2	HP:0003256	Abnormality of the coagulation cascade	HP:0040282	ORPHA:86884
84868	HAVCR2	HP:0000282	Facial edema	HP:0040284	OMIM:618398
84868	HAVCR2	HP:0012378	Fatigue	HP:0040282	ORPHA:86884
84868	HAVCR2	HP:0002960	Autoimmunity	HP:0040284	OMIM:618398
84868	HAVCR2	HP:0012490	Panniculitis	16/16	OMIM:618398
84868	HAVCR2	HP:0012490	Panniculitis	HP:0040281	ORPHA:86884
84868	HAVCR2	HP:0001744	Splenomegaly	HP:0040284	OMIM:618398
84868	HAVCR2	HP:0001824	Weight loss	HP:0040282	ORPHA:86884
84868	HAVCR2	HP:0030350	Erythematous papule	HP:0040281	ORPHA:86884
84868	HAVCR2	HP:0001876	Pancytopenia	HP:0040284	OMIM:618398
84876	ORAI1	HP:0003701	Proximal muscle weakness	-	OMIM:612782
84876	ORAI1	HP:0003701	Proximal muscle weakness	-	OMIM:615883
84876	ORAI1	HP:0001288	Gait disturbance	-	OMIM:612782
84876	ORAI1	HP:0001252	Hypotonia	6/6	OMIM:612782
84876	ORAI1	HP:0001263	Global developmental delay	2/6	OMIM:612782
84876	ORAI1	HP:0002527	Falls	-	OMIM:615883
84876	ORAI1	HP:0002522	Areflexia of lower limbs	-	OMIM:615883
84876	ORAI1	HP:0001324	Muscle weakness	2/2	OMIM:615883
84876	ORAI1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612782
84876	ORAI1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615883
84876	ORAI1	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:612782
84876	ORAI1	HP:0002719	Recurrent infections	5/6	OMIM:612782
84876	ORAI1	HP:0002720	Decreased circulating IgA concentration	0/5	OMIM:612782
84876	ORAI1	HP:0002721	Immunodeficiency	-	OMIM:612782
84876	ORAI1	HP:0002028	Chronic diarrhea	3/6	OMIM:612782
84876	ORAI1	HP:0003326	Myalgia	HP:0040281	ORPHA:2593
84876	ORAI1	HP:0003306	Spinal rigidity	6/6	OMIM:615883
84876	ORAI1	HP:0003324	Generalized muscle weakness	5/6	OMIM:615883
84876	ORAI1	HP:0003394	Muscle spasm	HP:0040281	ORPHA:2593
84876	ORAI1	HP:0003391	Gowers sign	-	OMIM:612782
84876	ORAI1	HP:0002046	Heat intolerance	-	OMIM:612782
84876	ORAI1	HP:0003473	Fatigable weakness	HP:0040281	ORPHA:2593
84876	ORAI1	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:2593
84876	ORAI1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:3204
84876	ORAI1	HP:0003577	Congenital onset	6/6	OMIM:612782
84876	ORAI1	HP:0003554	Type 2 muscle fiber atrophy	HP:0040283	ORPHA:2593
84876	ORAI1	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:2593
84876	ORAI1	HP:0020086	BCGitis	1/6	OMIM:612782
84876	ORAI1	HP:0003687	Centrally nucleated skeletal muscle fibers	HP:0040282	ORPHA:2593
84876	ORAI1	HP:0003677	Slowly progressive	-	OMIM:615883
84876	ORAI1	HP:0003621	Juvenile onset	1/5	OMIM:615883
84876	ORAI1	HP:0000616	Miosis	HP:0040281	ORPHA:3204
84876	ORAI1	HP:0000616	Miosis	2/2	OMIM:615883
84876	ORAI1	HP:0001954	Recurrent fever	-	OMIM:612782
84876	ORAI1	HP:0001928	Abnormality of coagulation	HP:0040281	ORPHA:3204
84876	ORAI1	HP:0001903	Anemia	HP:0040281	ORPHA:3204
84876	ORAI1	HP:0009027	Foot dorsiflexor weakness	-	OMIM:615883
84876	ORAI1	HP:0004322	Short stature	HP:0040281	ORPHA:3204
84876	ORAI1	HP:0004315	Decreased circulating IgG concentration	0/5	OMIM:612782
84876	ORAI1	HP:0003011	Abnormality of the musculature	HP:0040281	ORPHA:3204
84876	ORAI1	HP:0000705	Amelogenesis imperfecta	2/6	OMIM:612782
84876	ORAI1	HP:0011463	Childhood onset	4/5	OMIM:615883
84876	ORAI1	HP:0000778	Hypoplasia of the thymus	3/6	OMIM:612782
84876	ORAI1	HP:0003198	Myopathy	-	OMIM:612782
84876	ORAI1	HP:0100301	Muscle fiber tubular inclusions	HP:0040281	ORPHA:2593
84876	ORAI1	HP:0010280	Stomatitis	-	OMIM:612782
84876	ORAI1	HP:0040089	Abnormal total natural killer cell count	0/4	OMIM:612782
84876	ORAI1	HP:0003236	Elevated circulating creatine kinase concentration	5/6	OMIM:615883
84876	ORAI1	HP:0000979	Purpura	HP:0040281	ORPHA:3204
84876	ORAI1	HP:0000968	Ectodermal dysplasia	2/2	OMIM:612782
84876	ORAI1	HP:0008064	Ichthyosis	HP:0040281	ORPHA:3204
84876	ORAI1	HP:0006466	Ankle flexion contracture	5/5	OMIM:615883
84876	ORAI1	HP:0001522	Death in infancy	4/6	OMIM:612782
84876	ORAI1	HP:0001508	Failure to thrive	4/6	OMIM:612782
84876	ORAI1	HP:0002850	Decreased circulating total IgM	1/5	OMIM:612782
84876	ORAI1	HP:0030200	Fatiguable weakness of proximal limb muscles	HP:0040281	ORPHA:2593
84876	ORAI1	HP:0002901	Hypocalcemia	5/5	OMIM:615883
84876	ORAI1	HP:0000348	High forehead	HP:0040281	ORPHA:3204
84876	ORAI1	HP:0000490	Deeply set eye	HP:0040281	ORPHA:3204
84876	ORAI1	HP:0011107	Recurrent aphthous stomatitis	-	OMIM:612782
84876	ORAI1	HP:0000467	Neck muscle weakness	-	OMIM:615883
84876	ORAI1	HP:0001746	Asplenia	HP:0040281	ORPHA:3204
84876	ORAI1	HP:0001888	Decreased total lymphocyte count	0/6	OMIM:612782
84876	ORAI1	HP:0001872	Abnormality of thrombocytes	HP:0040281	ORPHA:3204
84879	MFSD2A	HP:0010864	Intellectual disability, severe	3/3	OMIM:616486
84879	MFSD2A	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
84879	MFSD2A	HP:0002421	Poor head control	3/3	OMIM:616486
84879	MFSD2A	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
84879	MFSD2A	HP:0001285	Spastic tetraparesis	3/3	OMIM:616486
84879	MFSD2A	HP:0001250	Seizure	-	OMIM:616486
84879	MFSD2A	HP:0001252	Hypotonia	3/3	OMIM:616486
84879	MFSD2A	HP:0001251	Ataxia	0/3	OMIM:616486
84879	MFSD2A	HP:0001263	Global developmental delay	-	OMIM:616486
84879	MFSD2A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
84879	MFSD2A	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
84879	MFSD2A	HP:0002540	Inability to walk	3/3	OMIM:616486
84879	MFSD2A	HP:0003819	Death in childhood	2/3	OMIM:616486
84879	MFSD2A	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
84879	MFSD2A	HP:0001347	Hyperreflexia	3/3	OMIM:616486
84879	MFSD2A	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
84879	MFSD2A	HP:0001344	Absent speech	3/3	OMIM:616486
84879	MFSD2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:616486
84879	MFSD2A	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
84879	MFSD2A	HP:0001321	Cerebellar hypoplasia	3/3	OMIM:616486
84879	MFSD2A	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
84879	MFSD2A	HP:0002064	Spastic gait	-	OMIM:616486
84879	MFSD2A	HP:0002079	Hypoplasia of the corpus callosum	3/3	OMIM:616486
84879	MFSD2A	HP:0002119	Ventriculomegaly	3/3	OMIM:616486
84879	MFSD2A	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
84879	MFSD2A	HP:0003577	Congenital onset	3/3	OMIM:616486
84879	MFSD2A	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
84879	MFSD2A	HP:0002365	Hypoplasia of the brainstem	3/3	OMIM:616486
84879	MFSD2A	HP:0003676	Progressive	-	OMIM:616486
84879	MFSD2A	HP:0004322	Short stature	HP:0040281	ORPHA:2512
84879	MFSD2A	HP:0000729	Autistic behavior	2/3	OMIM:616486
84879	MFSD2A	HP:0011421	Death in adolescence	1/3	OMIM:616486
84879	MFSD2A	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
84879	MFSD2A	HP:0000253	Progressive microcephaly	-	OMIM:616486
84879	MFSD2A	HP:0000252	Microcephaly	3/3	OMIM:616486
84879	MFSD2A	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
84879	MFSD2A	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
84879	MFSD2A	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
84879	MFSD2A	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
84879	MFSD2A	HP:0001776	Bilateral talipes equinovarus	2/3	OMIM:616486
84879	MFSD2A	HP:0000582	Upslanted palpebral fissure	0/3	OMIM:616486
84879	MFSD2A	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
84888	SPPL2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:619549
84888	SPPL2A	HP:0003496	Increased circulating IgM level	2/3	OMIM:619549
84888	SPPL2A	HP:0020086	BCGitis	3/3	OMIM:619549
84888	SPPL2A	HP:0004315	Decreased circulating IgG concentration	3/3	OMIM:619549
84888	SPPL2A	HP:0003203	Decreased neutrophil oxidative burst	0/1	OMIM:619549
84892	POMGNT2	HP:0007260	Type II lissencephaly	6/6	OMIM:614830
84892	POMGNT2	HP:0003701	Proximal muscle weakness	1/3	OMIM:618135
84892	POMGNT2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:899
84892	POMGNT2	HP:0001270	Motor delay	1/3	OMIM:618135
84892	POMGNT2	HP:0001284	Areflexia	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0001250	Seizure	HP:0040283	ORPHA:899
84892	POMGNT2	HP:0001252	Hypotonia	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0001252	Hypotonia	3/5	OMIM:614830
84892	POMGNT2	HP:0001249	Intellectual disability	2/3	OMIM:618135
84892	POMGNT2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0001263	Global developmental delay	1/3	OMIM:618135
84892	POMGNT2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0001263	Global developmental delay	-	OMIM:614830
84892	POMGNT2	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:899
84892	POMGNT2	HP:0002536	Abnormal cortical gyration	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:899
84892	POMGNT2	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:899
84892	POMGNT2	HP:0001328	Specific learning disability	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0001339	Lissencephaly	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618135
84892	POMGNT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614830
84892	POMGNT2	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:899
84892	POMGNT2	HP:0001302	Pachygyria	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0001321	Cerebellar hypoplasia	6/6	OMIM:614830
84892	POMGNT2	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0000193	Bifid uvula	HP:0040283	ORPHA:899
84892	POMGNT2	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:899
84892	POMGNT2	HP:0000175	Cleft palate	HP:0040283	ORPHA:899
84892	POMGNT2	HP:0008981	Calf muscle hypertrophy	3/3	OMIM:618135
84892	POMGNT2	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0003391	Gowers sign	1/3	OMIM:618135
84892	POMGNT2	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0002119	Ventriculomegaly	6/6	OMIM:614830
84892	POMGNT2	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0010508	Metatarsus valgus	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0003593	Infantile onset	2/3	OMIM:618135
84892	POMGNT2	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0003577	Congenital onset	6/6	OMIM:614830
84892	POMGNT2	HP:0003560	Muscular dystrophy	6/6	OMIM:614830
84892	POMGNT2	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0003693	Distal amyotrophy	1/3	OMIM:618135
84892	POMGNT2	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0003621	Juvenile onset	1/3	OMIM:618135
84892	POMGNT2	HP:0000648	Optic atrophy	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0000612	Iris coloboma	HP:0040283	ORPHA:899
84892	POMGNT2	HP:0000750	Delayed speech and language development	2/3	OMIM:618135
84892	POMGNT2	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0003236	Elevated circulating creatine kinase concentration	3/3	OMIM:618135
84892	POMGNT2	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0000256	Macrocephaly	HP:0040282	ORPHA:899
84892	POMGNT2	HP:0007731	Chorioretinal dysplasia	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0000238	Hydrocephalus	-	OMIM:614830
84892	POMGNT2	HP:0000252	Microcephaly	HP:0040283	ORPHA:899
84892	POMGNT2	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:899
84892	POMGNT2	HP:0000369	Low-set ears	HP:0040283	ORPHA:899
84892	POMGNT2	HP:0007957	Corneal opacity	HP:0040282	ORPHA:899
84892	POMGNT2	HP:0007973	Retinal dysplasia	2/6	OMIM:614830
84892	POMGNT2	HP:0007973	Retinal dysplasia	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0000482	Microcornea	HP:0040283	ORPHA:899
84892	POMGNT2	HP:0012400	Abnormal circulating aldolase concentration	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0000411	Protruding ear	HP:0040283	ORPHA:899
84892	POMGNT2	HP:0000518	Cataract	HP:0040283	ORPHA:899
84892	POMGNT2	HP:0000528	Anophthalmia	HP:0040282	ORPHA:899
84892	POMGNT2	HP:0000501	Glaucoma	2/6	OMIM:614830
84892	POMGNT2	HP:0000501	Glaucoma	HP:0040282	ORPHA:899
84892	POMGNT2	HP:0000587	Abnormal optic nerve morphology	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:899
84892	POMGNT2	HP:0000568	Microphthalmia	1/6	OMIM:614830
84892	POMGNT2	HP:0000568	Microphthalmia	HP:0040282	ORPHA:899
84892	POMGNT2	HP:0000541	Retinal detachment	HP:0040281	ORPHA:899
84894	LINGO1	HP:0010864	Intellectual disability, severe	5/5	OMIM:618103
84894	LINGO1	HP:0001276	Hypertonia	2/5	OMIM:618103
84894	LINGO1	HP:0001270	Motor delay	5/5	OMIM:618103
84894	LINGO1	HP:0001250	Seizure	1/5	OMIM:618103
84894	LINGO1	HP:0001263	Global developmental delay	5/5	OMIM:618103
84894	LINGO1	HP:0001257	Spasticity	2/5	OMIM:618103
84894	LINGO1	HP:0001350	Slurred speech	2/5	OMIM:618103
84894	LINGO1	HP:0001344	Absent speech	3/5	OMIM:618103
84894	LINGO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618103
84894	LINGO1	HP:0003593	Infantile onset	5/5	OMIM:618103
84894	LINGO1	HP:0011968	Feeding difficulties	2/5	OMIM:618103
84894	LINGO1	HP:0000718	Aggressive behavior	5/5	OMIM:618103
84894	LINGO1	HP:0012760	Reduced social responsiveness	5/5	OMIM:618103
84894	LINGO1	HP:0000252	Microcephaly	4/5	OMIM:618103
84896	ATAD1	HP:0001181	Adducted thumb	-	OMIM:618011
84896	ATAD1	HP:0001298	Encephalopathy	-	OMIM:618011
84896	ATAD1	HP:0001276	Hypertonia	HP:0040281	ORPHA:3197
84896	ATAD1	HP:0001276	Hypertonia	2/2	OMIM:618011
84896	ATAD1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:3197
84896	ATAD1	HP:0001250	Seizure	HP:0040283	ORPHA:3197
84896	ATAD1	HP:0001250	Seizure	2/2	OMIM:618011
84896	ATAD1	HP:0001251	Ataxia	HP:0040281	ORPHA:3197
84896	ATAD1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3197
84896	ATAD1	HP:0001263	Global developmental delay	-	OMIM:618011
84896	ATAD1	HP:0001257	Spasticity	HP:0040281	ORPHA:3197
84896	ATAD1	HP:0002521	Hypsarrhythmia	1/2	OMIM:618011
84896	ATAD1	HP:0012071	Abnormal circulating acylcarnitine concentration	0/1	OMIM:618011
84896	ATAD1	HP:0001371	Flexion contracture	-	OMIM:618011
84896	ATAD1	HP:0001373	Joint dislocation	HP:0040283	ORPHA:3197
84896	ATAD1	HP:0001387	Joint stiffness	HP:0040281	ORPHA:3197
84896	ATAD1	HP:0000023	Inguinal hernia	2/2	OMIM:618011
84896	ATAD1	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:3197
84896	ATAD1	HP:0001347	Hyperreflexia	1/2	OMIM:618011
84896	ATAD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618011
84896	ATAD1	HP:0001336	Myoclonus	HP:0040281	ORPHA:3197
84896	ATAD1	HP:0001336	Myoclonus	-	OMIM:618011
84896	ATAD1	HP:0002751	Kyphoscoliosis	-	OMIM:618011
84896	ATAD1	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:3197
84896	ATAD1	HP:0002036	Hiatus hernia	HP:0040281	ORPHA:3197
84896	ATAD1	HP:0002063	Rigidity	HP:0040281	ORPHA:3197
84896	ATAD1	HP:0002059	Cerebral atrophy	HP:0040284	OMIM:618011
84896	ATAD1	HP:0003577	Congenital onset	2/2	OMIM:618011
84896	ATAD1	HP:0003552	Muscle stiffness	HP:0040281	ORPHA:3197
84896	ATAD1	HP:0100790	Hernia	HP:0040282	ORPHA:3197
84896	ATAD1	HP:0002380	Fasciculations	HP:0040281	ORPHA:3197
84896	ATAD1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:3197
84896	ATAD1	HP:0003676	Progressive	-	OMIM:618011
84896	ATAD1	HP:0100633	Esophagitis	HP:0040281	ORPHA:3197
84896	ATAD1	HP:0005684	Distal arthrogryposis	-	OMIM:618011
84896	ATAD1	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:3197
84896	ATAD1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:3197
84896	ATAD1	HP:0002878	Respiratory failure	2/2	OMIM:618011
84896	ATAD1	HP:0000218	High palate	-	OMIM:618011
84896	ATAD1	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:3197
84896	ATAD1	HP:0001537	Umbilical hernia	-	OMIM:618011
84896	ATAD1	HP:0012385	Camptodactyly	-	OMIM:618011
84896	ATAD1	HP:0012469	Infantile spasms	0/1	OMIM:618011
84896	ATAD1	HP:0001762	Talipes equinovarus	-	OMIM:618011
84899	TMTC4	HP:0000007	Autosomal recessive inheritance	-	OMIM:620714
84899	TMTC4	HP:0003581	Adult onset	2/2	OMIM:620714
84899	TMTC4	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:620714
84905	ZNF341	HP:0001256	Intellectual disability, mild	6/8	OMIM:618282
84905	ZNF341	HP:0032326	Methicillin-resistant Staphylococcus aureus infection	4/11	OMIM:618282
84905	ZNF341	HP:0001382	Joint hypermobility	HP:0040284	OMIM:618282
84905	ZNF341	HP:0000007	Autosomal recessive inheritance	-	OMIM:618282
84905	ZNF341	HP:0000164	Abnormality of the dentition	-	OMIM:618282
84905	ZNF341	HP:0031292	Cutaneous abscess	2/11	OMIM:618282
84905	ZNF341	HP:0002754	Osteomyelitis	1/11	OMIM:618282
84905	ZNF341	HP:0002719	Recurrent infections	-	OMIM:618282
84905	ZNF341	HP:0002728	Chronic mucocutaneous candidiasis	-	OMIM:618282
84905	ZNF341	HP:0002720	Decreased circulating IgA concentration	1/11	OMIM:618282
84905	ZNF341	HP:0002110	Bronchiectasis	-	OMIM:618282
84905	ZNF341	HP:0003416	Spinal canal stenosis	1/11	OMIM:618282
84905	ZNF341	HP:0002205	Recurrent respiratory infections	-	OMIM:618282
84905	ZNF341	HP:0001047	Atopic dermatitis	-	OMIM:618282
84905	ZNF341	HP:0009098	Chronic oral candidiasis	3/11	OMIM:618282
84905	ZNF341	HP:0003212	Increased circulating IgE concentration	6/7	OMIM:618282
84905	ZNF341	HP:0000989	Pruritus	-	OMIM:618282
84905	ZNF341	HP:0000958	Dry skin	1/11	OMIM:618282
84905	ZNF341	HP:0000964	Eczematoid dermatitis	8/8	OMIM:618282
84905	ZNF341	HP:0001596	Alopecia	HP:0040284	OMIM:618282
84905	ZNF341	HP:0001581	Recurrent skin infections	11/11	OMIM:618282
84905	ZNF341	HP:0000218	High palate	-	OMIM:618282
84905	ZNF341	HP:0006532	Recurrent pneumonia	2/11	OMIM:618282
84905	ZNF341	HP:0000347	Micrognathia	-	OMIM:618282
84905	ZNF341	HP:0001642	Pulmonic stenosis	1/11	OMIM:618282
84905	ZNF341	HP:0025616	Sterile abscess	4/11	OMIM:618282
84905	ZNF341	HP:0001631	Atrial septal defect	1/11	OMIM:618282
84905	ZNF341	HP:0000403	Recurrent otitis media	4/11	OMIM:618282
84905	ZNF341	HP:0011108	Recurrent sinusitis	2/11	OMIM:618282
84905	ZNF341	HP:0000445	Wide nose	-	OMIM:618282
84905	ZNF341	HP:0001880	Increased total eosinophil count	1/11	OMIM:618282
84909	AOPEP	HP:0007325	Generalized dystonia	3/5	OMIM:619565
84909	AOPEP	HP:0001288	Gait disturbance	3/5	OMIM:619565
84909	AOPEP	HP:0002533	Abnormal posturing	-	OMIM:619565
84909	AOPEP	HP:0000007	Autosomal recessive inheritance	-	OMIM:619565
84909	AOPEP	HP:0001300	Parkinsonism	2/5	OMIM:619565
84909	AOPEP	HP:0012179	Craniofacial dystonia	2/5	OMIM:619565
84909	AOPEP	HP:0002015	Dysphagia	1/5	OMIM:619565
84909	AOPEP	HP:0003552	Muscle stiffness	1/5	OMIM:619565
84909	AOPEP	HP:0002356	Writer's cramp	5/5	OMIM:619565
84909	AOPEP	HP:0003621	Juvenile onset	2/5	OMIM:619565
84909	AOPEP	HP:0031959	Leg dystonia	4/5	OMIM:619565
84909	AOPEP	HP:0031960	Arm dystonia	5/5	OMIM:619565
84909	AOPEP	HP:0000716	Depression	1/5	OMIM:619565
84909	AOPEP	HP:0011462	Young adult onset	3/5	OMIM:619565
84909	AOPEP	HP:0001621	Weak voice	3/5	OMIM:619565
84919	PPP1R15B	HP:0002465	Poor speech	HP:0040282	ORPHA:391408
84919	PPP1R15B	HP:0002460	Distal muscle weakness	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0007258	Severe demyelination of the white matter	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0010864	Intellectual disability, severe	-	OMIM:616817
84919	PPP1R15B	HP:0001250	Seizure	HP:0040282	ORPHA:391408
84919	PPP1R15B	HP:0001250	Seizure	-	OMIM:616817
84919	PPP1R15B	HP:0001249	Intellectual disability	HP:0040281	ORPHA:391408
84919	PPP1R15B	HP:0001249	Intellectual disability	-	OMIM:616817
84919	PPP1R15B	HP:0001260	Dysarthria	-	OMIM:616817
84919	PPP1R15B	HP:0001263	Global developmental delay	HP:0040282	ORPHA:391408
84919	PPP1R15B	HP:0001257	Spasticity	-	OMIM:616817
84919	PPP1R15B	HP:0001238	Slender finger	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0025383	Dorsocervical fat pad	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000089	Renal hypoplasia	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0001348	Brisk reflexes	-	OMIM:616817
84919	PPP1R15B	HP:0001348	Brisk reflexes	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000028	Cryptorchidism	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0008850	Severe postnatal growth retardation	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000007	Autosomal recessive inheritance	-	OMIM:616817
84919	PPP1R15B	HP:0002650	Scoliosis	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000160	Narrow mouth	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0000160	Narrow mouth	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0002751	Kyphoscoliosis	-	OMIM:616817
84919	PPP1R15B	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0002750	Delayed skeletal maturation	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0002714	Downturned corners of mouth	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0003307	Hyperlordosis	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0002066	Gait ataxia	-	OMIM:616817
84919	PPP1R15B	HP:0002078	Truncal ataxia	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0003468	Abnormal vertebral morphology	-	OMIM:616817
84919	PPP1R15B	HP:0002136	Broad-based gait	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0002213	Fine hair	-	OMIM:616817
84919	PPP1R15B	HP:0002213	Fine hair	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0003508	Proportionate short stature	HP:0040281	ORPHA:391408
84919	PPP1R15B	HP:0002365	Hypoplasia of the brainstem	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0002365	Hypoplasia of the brainstem	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0001015	Prominent superficial veins	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0200021	Down-sloping shoulders	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0200021	Down-sloping shoulders	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:391408
84919	PPP1R15B	HP:0001946	Ketosis	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000601	Hypotelorism	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0000601	Hypotelorism	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000677	Oligodontia	-	OMIM:616817
84919	PPP1R15B	HP:0000677	Oligodontia	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000685	Hypoplasia of teeth	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0001988	Recurrent hypoglycemia	-	OMIM:616817
84919	PPP1R15B	HP:0011308	Slender toe	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:391408
84919	PPP1R15B	HP:0000664	Synophrys	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0004325	Decreased body weight	HP:0040282	ORPHA:391408
84919	PPP1R15B	HP:0004322	Short stature	-	OMIM:616817
84919	PPP1R15B	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000767	Pectus excavatum	-	OMIM:616817
84919	PPP1R15B	HP:0011451	Primary microcephaly	HP:0040281	ORPHA:391408
84919	PPP1R15B	HP:0003196	Short nose	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000819	Diabetes mellitus	HP:0040281	ORPHA:391408
84919	PPP1R15B	HP:0000821	Hypothyroidism	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000823	Delayed puberty	-	OMIM:616817
84919	PPP1R15B	HP:0000823	Delayed puberty	HP:0040282	ORPHA:391408
84919	PPP1R15B	HP:0004570	Increased vertebral height	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0008081	Pes valgus	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0008070	Sparse hair	-	OMIM:616817
84919	PPP1R15B	HP:0008070	Sparse hair	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0010344	Deviation of the 5th toe	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000286	Epicanthus	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000286	Epicanthus	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0000293	Full cheeks	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0000293	Full cheeks	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000294	Low anterior hairline	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000275	Narrow face	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000274	Small face	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0030084	Clinodactyly	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000252	Microcephaly	HP:0040281	ORPHA:391408
84919	PPP1R15B	HP:0000252	Microcephaly	-	OMIM:616817
84919	PPP1R15B	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0001518	Small for gestational age	-	OMIM:616817
84919	PPP1R15B	HP:0001518	Small for gestational age	HP:0040281	ORPHA:391408
84919	PPP1R15B	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:391408
84919	PPP1R15B	HP:0001511	Intrauterine growth retardation	-	OMIM:616817
84919	PPP1R15B	HP:0001510	Growth delay	-	OMIM:616817
84919	PPP1R15B	HP:0030186	Kinetic tremor	-	OMIM:616817
84919	PPP1R15B	HP:0000365	Hearing impairment	-	OMIM:616817
84919	PPP1R15B	HP:0000341	Narrow forehead	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000343	Long philtrum	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000347	Micrognathia	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000347	Micrognathia	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0000311	Round face	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000322	Short philtrum	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0001620	Abnormally high-pitched voice	-	OMIM:616817
84919	PPP1R15B	HP:0001620	Abnormally high-pitched voice	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0000400	Macrotia	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0000400	Macrotia	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000494	Downslanted palpebral fissures	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0000463	Anteverted nares	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0012448	Delayed myelination	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0012448	Delayed myelination	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000470	Short neck	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000445	Wide nose	HP:0040283	ORPHA:391408
84919	PPP1R15B	HP:0000592	Blue sclerae	HP:0040283	OMIM:616817
84919	PPP1R15B	HP:0000592	Blue sclerae	HP:0040283	ORPHA:391408
84936	ZFYVE19	HP:0000007	Autosomal recessive inheritance	-	OMIM:619849
84936	ZFYVE19	HP:0001409	Portal hypertension	4/9	OMIM:619849
84936	ZFYVE19	HP:0001406	Intrahepatic cholestasis	2/9	OMIM:619849
84936	ZFYVE19	HP:0001413	Micronodular cirrhosis	1/9	OMIM:619849
84936	ZFYVE19	HP:0002014	Diarrhea	2/9	OMIM:619849
84936	ZFYVE19	HP:0003593	Infantile onset	4/9	OMIM:619849
84936	ZFYVE19	HP:0003577	Congenital onset	1/9	OMIM:619849
84936	ZFYVE19	HP:0002240	Hepatomegaly	9/9	OMIM:619849
84936	ZFYVE19	HP:0001945	Fever	2/9	OMIM:619849
84936	ZFYVE19	HP:0011463	Childhood onset	4/9	OMIM:619849
84936	ZFYVE19	HP:0034328	Fibro-obliterative bile-duct lesion	3/3	OMIM:619849
84936	ZFYVE19	HP:0000989	Pruritus	1/9	OMIM:619849
84936	ZFYVE19	HP:0000952	Jaundice	3/9	OMIM:619849
84936	ZFYVE19	HP:0006563	Malformation of the hepatic ductal plate	7/9	OMIM:619849
84936	ZFYVE19	HP:0001744	Splenomegaly	7/9	OMIM:619849
84942	WDR73	HP:0001188	Hand clenching	-	OMIM:251300
84942	WDR73	HP:0001181	Adducted thumb	HP:0040283	ORPHA:2065
84942	WDR73	HP:0002465	Poor speech	-	OMIM:251300
84942	WDR73	HP:0002410	Aqueductal stenosis	HP:0040283	ORPHA:2065
84942	WDR73	HP:0001276	Hypertonia	HP:0040283	ORPHA:2065
84942	WDR73	HP:0001272	Cerebellar atrophy	12/12	OMIM:251300
84942	WDR73	HP:0001270	Motor delay	HP:0040281	ORPHA:83472
84942	WDR73	HP:0001250	Seizure	HP:0040282	ORPHA:83472
84942	WDR73	HP:0001250	Seizure	HP:0040282	ORPHA:2065
84942	WDR73	HP:0001250	Seizure	7/15	OMIM:251300
84942	WDR73	HP:0001252	Hypotonia	HP:0040281	ORPHA:83472
84942	WDR73	HP:0001252	Hypotonia	HP:0040283	ORPHA:2065
84942	WDR73	HP:0001252	Hypotonia	-	OMIM:251300
84942	WDR73	HP:0001251	Ataxia	HP:0040281	ORPHA:83472
84942	WDR73	HP:0001251	Ataxia	HP:0040283	OMIM:251300
84942	WDR73	HP:0001249	Intellectual disability	HP:0040281	ORPHA:83472
84942	WDR73	HP:0001249	Intellectual disability	15/15	OMIM:251300
84942	WDR73	HP:0001260	Dysarthria	HP:0040282	ORPHA:83472
84942	WDR73	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2065
84942	WDR73	HP:0001263	Global developmental delay	-	OMIM:251300
84942	WDR73	HP:0001257	Spasticity	9/15	OMIM:251300
84942	WDR73	HP:0001257	Spasticity	HP:0040282	ORPHA:83472
84942	WDR73	HP:0001238	Slender finger	-	OMIM:251300
84942	WDR73	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:83472
84942	WDR73	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:2065
84942	WDR73	HP:0002510	Spastic tetraplegia	HP:0040283	OMIM:251300
84942	WDR73	HP:0000083	Renal insufficiency	-	OMIM:251300
84942	WDR73	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:83472
84942	WDR73	HP:0000097	Focal segmental glomerulosclerosis	-	OMIM:251300
84942	WDR73	HP:0000093	Proteinuria	6/12	OMIM:251300
84942	WDR73	HP:0000093	Proteinuria	HP:0040281	ORPHA:2065
84942	WDR73	HP:0001347	Hyperreflexia	-	OMIM:251300
84942	WDR73	HP:0001332	Dystonia	8/15	OMIM:251300
84942	WDR73	HP:0000007	Autosomal recessive inheritance	-	OMIM:251300
84942	WDR73	HP:0001305	Dandy-Walker malformation	HP:0040283	OMIM:251300
84942	WDR73	HP:0001302	Pachygyria	-	OMIM:251300
84942	WDR73	HP:0001302	Pachygyria	HP:0040282	ORPHA:2065
84942	WDR73	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:2065
84942	WDR73	HP:0000154	Wide mouth	-	OMIM:251300
84942	WDR73	HP:0007676	Hypoplasia of the iris	-	OMIM:251300
84942	WDR73	HP:0008936	Axial hypotonia	11/15	OMIM:251300
84942	WDR73	HP:0000100	Nephrotic syndrome	-	OMIM:251300
84942	WDR73	HP:0000100	Nephrotic syndrome	HP:0040282	ORPHA:83472
84942	WDR73	HP:0000100	Nephrotic syndrome	HP:0040281	ORPHA:2065
84942	WDR73	HP:0000112	Nephropathy	HP:0040281	ORPHA:2065
84942	WDR73	HP:0002036	Hiatus hernia	-	OMIM:251300
84942	WDR73	HP:0002036	Hiatus hernia	HP:0040282	ORPHA:2065
84942	WDR73	HP:0011800	Midface retrusion	-	OMIM:251300
84942	WDR73	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:2065
84942	WDR73	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:251300
84942	WDR73	HP:0002059	Cerebral atrophy	8/12	OMIM:251300
84942	WDR73	HP:0009473	Joint contracture of the hand	-	OMIM:251300
84942	WDR73	HP:0002119	Ventriculomegaly	-	OMIM:251300
84942	WDR73	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2065
84942	WDR73	HP:0003593	Infantile onset	-	OMIM:251300
84942	WDR73	HP:0002269	Abnormality of neuronal migration	0/12	OMIM:251300
84942	WDR73	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:2065
84942	WDR73	HP:0100720	Hypoplasia of the ear cartilage	HP:0040281	ORPHA:2065
84942	WDR73	HP:0011968	Feeding difficulties	HP:0040283	OMIM:251300
84942	WDR73	HP:0002365	Hypoplasia of the brainstem	-	OMIM:251300
84942	WDR73	HP:0002360	Sleep abnormality	4/9	OMIM:251300
84942	WDR73	HP:0001010	Hypopigmentation of the skin	-	OMIM:251300
84942	WDR73	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2065
84942	WDR73	HP:0007153	Progressive extrapyramidal movement disorder	HP:0040281	ORPHA:83472
84942	WDR73	HP:0000639	Nystagmus	-	OMIM:251300
84942	WDR73	HP:0001967	Diffuse mesangial sclerosis	-	OMIM:251300
84942	WDR73	HP:0000648	Optic atrophy	13/14	OMIM:251300
84942	WDR73	HP:0000648	Optic atrophy	HP:0040281	ORPHA:83472
84942	WDR73	HP:0000601	Hypotelorism	HP:0040283	ORPHA:2065
84942	WDR73	HP:0004322	Short stature	HP:0040282	ORPHA:2065
84942	WDR73	HP:0004322	Short stature	-	OMIM:251300
84942	WDR73	HP:0003073	Hypoalbuminemia	-	OMIM:251300
84942	WDR73	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:2065
84942	WDR73	HP:0000750	Delayed speech and language development	11/12	OMIM:251300
84942	WDR73	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:83472
84942	WDR73	HP:0000286	Epicanthus	-	OMIM:251300
84942	WDR73	HP:0005108	Abnormal intervertebral disk morphology	HP:0040283	ORPHA:2065
84942	WDR73	HP:0007759	Opacification of the corneal stroma	-	OMIM:251300
84942	WDR73	HP:0000252	Microcephaly	HP:0040281	ORPHA:83472
84942	WDR73	HP:0000252	Microcephaly	HP:0040281	ORPHA:2065
84942	WDR73	HP:0000252	Microcephaly	13/15	OMIM:251300
84942	WDR73	HP:0000218	High palate	-	OMIM:251300
84942	WDR73	HP:0001562	Oligohydramnios	-	OMIM:251300
84942	WDR73	HP:0001518	Small for gestational age	-	OMIM:251300
84942	WDR73	HP:0001511	Intrauterine growth retardation	-	OMIM:251300
84942	WDR73	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2065
84942	WDR73	HP:0012385	Camptodactyly	-	OMIM:251300
84942	WDR73	HP:0000369	Low-set ears	-	OMIM:251300
84942	WDR73	HP:0000340	Sloping forehead	-	OMIM:251300
84942	WDR73	HP:0000347	Micrognathia	HP:0040283	ORPHA:2065
84942	WDR73	HP:0000347	Micrognathia	-	OMIM:251300
84942	WDR73	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2065
84942	WDR73	HP:0000316	Hypertelorism	-	OMIM:251300
84942	WDR73	HP:0001622	Premature birth	HP:0040282	ORPHA:2065
84942	WDR73	HP:0000400	Macrotia	-	OMIM:251300
84942	WDR73	HP:0000400	Macrotia	HP:0040282	ORPHA:2065
84942	WDR73	HP:0000486	Strabismus	-	OMIM:251300
84942	WDR73	HP:0001792	Small nail	-	OMIM:251300
84942	WDR73	HP:0012444	Brain atrophy	HP:0040282	ORPHA:83472
84942	WDR73	HP:0000448	Prominent nose	-	OMIM:251300
84942	WDR73	HP:0000418	Narrow nasal ridge	-	OMIM:251300
84942	WDR73	HP:0001762	Talipes equinovarus	-	OMIM:251300
84942	WDR73	HP:0001761	Pes cavus	-	OMIM:251300
84942	WDR73	HP:0005484	Secondary microcephaly	-	OMIM:251300
84942	WDR73	HP:0005469	Flat occiput	-	OMIM:251300
84942	WDR73	HP:0000518	Cataract	-	OMIM:251300
84942	WDR73	HP:0000508	Ptosis	-	OMIM:251300
84942	WDR73	HP:0000568	Microphthalmia	-	OMIM:251300
84946	LTV1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620199
84946	LTV1	HP:0034572	Pigment incontinence	1/2	OMIM:620199
84946	LTV1	HP:0003593	Infantile onset	1/4	OMIM:620199
84946	LTV1	HP:0002223	Absent eyebrow	3/4	OMIM:620199
84946	LTV1	HP:0002209	Sparse scalp hair	2/4	OMIM:620199
84946	LTV1	HP:0001029	Poikiloderma	4/4	OMIM:620199
84946	LTV1	HP:0200016	Acrokeratosis	4/4	OMIM:620199
84946	LTV1	HP:0001070	Mottled pigmentation	4/4	OMIM:620199
84946	LTV1	HP:0000653	Sparse eyelashes	4/4	OMIM:620199
84946	LTV1	HP:0011463	Childhood onset	3/4	OMIM:620199
84946	LTV1	HP:0045075	Sparse eyebrow	1/4	OMIM:620199
84947	SERAC1	HP:0001298	Encephalopathy	-	OMIM:614739
84947	SERAC1	HP:0001290	Generalized hypotonia	-	OMIM:614739
84947	SERAC1	HP:0001272	Cerebellar atrophy	-	OMIM:614739
84947	SERAC1	HP:0001250	Seizure	HP:0040283	OMIM:614739
84947	SERAC1	HP:0001252	Hypotonia	-	OMIM:614739
84947	SERAC1	HP:0001249	Intellectual disability	14/14	OMIM:614739
84947	SERAC1	HP:0001263	Global developmental delay	14/14	OMIM:614739
84947	SERAC1	HP:0001257	Spasticity	13/14	OMIM:614739
84947	SERAC1	HP:0002540	Inability to walk	-	OMIM:614739
84947	SERAC1	HP:0001332	Dystonia	14/14	OMIM:614739
84947	SERAC1	HP:0001344	Absent speech	-	OMIM:614739
84947	SERAC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614739
84947	SERAC1	HP:0002719	Recurrent infections	-	OMIM:614739
84947	SERAC1	HP:0003348	Hyperalaninemia	8/13	OMIM:614739
84947	SERAC1	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:614739
84947	SERAC1	HP:0002151	Increased circulating lactate concentration	14/15	OMIM:614739
84947	SERAC1	HP:0003535	3-Methylglutaconic aciduria	14/14	OMIM:614739
84947	SERAC1	HP:0011968	Feeding difficulties	-	OMIM:614739
84947	SERAC1	HP:0002376	Developmental regression	15/15	OMIM:614739
84947	SERAC1	HP:0000648	Optic atrophy	-	OMIM:614739
84947	SERAC1	HP:0001943	Hypoglycemia	-	OMIM:614739
84947	SERAC1	HP:0001987	Hyperammonemia	-	OMIM:614739
84947	SERAC1	HP:0003128	Lactic acidosis	-	OMIM:614739
84947	SERAC1	HP:0003256	Abnormality of the coagulation cascade	-	OMIM:614739
84947	SERAC1	HP:0040187	Neonatal sepsis	-	OMIM:614739
84947	SERAC1	HP:0000252	Microcephaly	HP:0040283	OMIM:614739
84947	SERAC1	HP:0001508	Failure to thrive	-	OMIM:614739
84947	SERAC1	HP:0002977	Aplasia/Hypoplasia involving the central nervous system	-	OMIM:614739
84947	SERAC1	HP:0000407	Sensorineural hearing impairment	13/14	OMIM:614739
84947	SERAC1	HP:0012444	Brain atrophy	8/11	OMIM:614739
84957	RELT	HP:0000007	Autosomal recessive inheritance	-	OMIM:618386
84957	RELT	HP:0006286	Yellow-brown discoloration of the teeth	-	OMIM:618386
84957	RELT	HP:0009102	Anterior open-bite malocclusion	-	OMIM:618386
84957	RELT	HP:0000705	Amelogenesis imperfecta	-	OMIM:618386
84957	RELT	HP:0011084	Hypocalcification of dental enamel	-	OMIM:618386
84976	DISP1	HP:0002465	Poor speech	HP:0040283	ORPHA:93926
84976	DISP1	HP:0002465	Poor speech	HP:0040282	ORPHA:93924
84976	DISP1	HP:0002465	Poor speech	HP:0040283	ORPHA:93925
84976	DISP1	HP:0002465	Poor speech	HP:0040283	ORPHA:220386
84976	DISP1	HP:0002474	Expressive language delay	HP:0040282	ORPHA:280195
84976	DISP1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:220386
84976	DISP1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93926
84976	DISP1	HP:0002451	Limb dystonia	HP:0040283	ORPHA:93924
84976	DISP1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:93925
84976	DISP1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:220386
84976	DISP1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93926
84976	DISP1	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:93924
84976	DISP1	HP:0007301	Oromotor apraxia	HP:0040282	ORPHA:93925
84976	DISP1	HP:0009932	Single naris	HP:0040283	ORPHA:220386
84976	DISP1	HP:0009932	Single naris	HP:0040283	ORPHA:93926
84976	DISP1	HP:0009932	Single naris	HP:0040284	ORPHA:93924
84976	DISP1	HP:0009932	Single naris	HP:0040283	ORPHA:93925
84976	DISP1	HP:0009914	Cyclopia	HP:0040283	ORPHA:280200
84976	DISP1	HP:0009914	Cyclopia	HP:0040283	ORPHA:220386
84976	DISP1	HP:0009914	Cyclopia	HP:0040283	ORPHA:93926
84976	DISP1	HP:0009914	Cyclopia	HP:0040284	ORPHA:93924
84976	DISP1	HP:0009914	Cyclopia	HP:0040283	ORPHA:93925
84976	DISP1	HP:0002418	Abnormal midbrain morphology	HP:0040282	ORPHA:280195
84976	DISP1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:280195
84976	DISP1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:280200
84976	DISP1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93926
84976	DISP1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93924
84976	DISP1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93925
84976	DISP1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220386
84976	DISP1	HP:0001273	Abnormal corpus callosum morphology	HP:0040282	ORPHA:280195
84976	DISP1	HP:0001254	Lethargy	HP:0040282	ORPHA:93926
84976	DISP1	HP:0001254	Lethargy	HP:0040283	ORPHA:93924
84976	DISP1	HP:0001254	Lethargy	HP:0040282	ORPHA:93925
84976	DISP1	HP:0001254	Lethargy	HP:0040282	ORPHA:220386
84976	DISP1	HP:0001250	Seizure	HP:0040282	ORPHA:220386
84976	DISP1	HP:0001250	Seizure	HP:0040283	ORPHA:280200
84976	DISP1	HP:0001250	Seizure	HP:0040282	ORPHA:93926
84976	DISP1	HP:0001250	Seizure	HP:0040283	ORPHA:93924
84976	DISP1	HP:0001250	Seizure	HP:0040282	ORPHA:93925
84976	DISP1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280195
84976	DISP1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:220386
84976	DISP1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:280200
84976	DISP1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93926
84976	DISP1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93924
84976	DISP1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:93925
84976	DISP1	HP:0001257	Spasticity	HP:0040282	ORPHA:93926
84976	DISP1	HP:0001257	Spasticity	HP:0040283	ORPHA:93924
84976	DISP1	HP:0001257	Spasticity	HP:0040282	ORPHA:93925
84976	DISP1	HP:0001257	Spasticity	HP:0040282	ORPHA:220386
84976	DISP1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:280200
84976	DISP1	HP:0007375	Abnormal septum pellucidum morphology	HP:0040283	ORPHA:280195
84976	DISP1	HP:0007330	Frontoethmoidal encephalocele	HP:0040283	ORPHA:280195
84976	DISP1	HP:0002540	Inability to walk	HP:0040282	ORPHA:93926
84976	DISP1	HP:0002540	Inability to walk	HP:0040284	ORPHA:93924
84976	DISP1	HP:0002540	Inability to walk	HP:0040282	ORPHA:93925
84976	DISP1	HP:0002540	Inability to walk	HP:0040282	ORPHA:220386
84976	DISP1	HP:0000062	Ambiguous genitalia	HP:0040283	ORPHA:280200
84976	DISP1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93926
84976	DISP1	HP:0001371	Flexion contracture	HP:0040284	ORPHA:93924
84976	DISP1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:93925
84976	DISP1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:220386
84976	DISP1	HP:0001355	Megalencephaly	HP:0040283	ORPHA:280195
84976	DISP1	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:280200
84976	DISP1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93926
84976	DISP1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93924
84976	DISP1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:93925
84976	DISP1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:280195
84976	DISP1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:220386
84976	DISP1	HP:0001344	Absent speech	HP:0040282	ORPHA:93926
84976	DISP1	HP:0001344	Absent speech	HP:0040284	ORPHA:93924
84976	DISP1	HP:0001344	Absent speech	HP:0040282	ORPHA:93925
84976	DISP1	HP:0001344	Absent speech	HP:0040282	ORPHA:220386
84976	DISP1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93926
84976	DISP1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93924
84976	DISP1	HP:0002650	Scoliosis	HP:0040283	ORPHA:93925
84976	DISP1	HP:0002650	Scoliosis	HP:0040283	ORPHA:220386
84976	DISP1	HP:0002650	Scoliosis	HP:0040283	ORPHA:280200
84976	DISP1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93926
84976	DISP1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:93924
84976	DISP1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:93925
84976	DISP1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:220386
84976	DISP1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:220386
84976	DISP1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93926
84976	DISP1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93924
84976	DISP1	HP:0000161	Median cleft upper lip	HP:0040282	ORPHA:93925
84976	DISP1	HP:0000175	Cleft palate	HP:0040283	ORPHA:280200
84976	DISP1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93926
84976	DISP1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93924
84976	DISP1	HP:0000175	Cleft palate	HP:0040282	ORPHA:93925
84976	DISP1	HP:0000175	Cleft palate	HP:0040282	ORPHA:220386
84976	DISP1	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:280200
84976	DISP1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:220386
84976	DISP1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93926
84976	DISP1	HP:0006315	Solitary median maxillary central incisor	HP:0040284	ORPHA:93924
84976	DISP1	HP:0006315	Solitary median maxillary central incisor	HP:0040283	ORPHA:93925
84976	DISP1	HP:0008947	Floppy infant	HP:0040282	ORPHA:93926
84976	DISP1	HP:0008947	Floppy infant	HP:0040283	ORPHA:93924
84976	DISP1	HP:0008947	Floppy infant	HP:0040282	ORPHA:93925
84976	DISP1	HP:0008947	Floppy infant	HP:0040282	ORPHA:220386
84976	DISP1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93926
84976	DISP1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93924
84976	DISP1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:93925
84976	DISP1	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:220386
84976	DISP1	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:280195
84976	DISP1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:220386
84976	DISP1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93926
84976	DISP1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93924
84976	DISP1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:93925
84976	DISP1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:220386
84976	DISP1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93926
84976	DISP1	HP:0002793	Abnormal pattern of respiration	HP:0040283	ORPHA:93924
84976	DISP1	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:93925
84976	DISP1	HP:0000104	Renal agenesis	HP:0040283	ORPHA:280200
84976	DISP1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93926
84976	DISP1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93924
84976	DISP1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:93925
84976	DISP1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:220386
84976	DISP1	HP:0002019	Constipation	HP:0040282	ORPHA:93926
84976	DISP1	HP:0002019	Constipation	HP:0040282	ORPHA:93924
84976	DISP1	HP:0002019	Constipation	HP:0040282	ORPHA:93925
84976	DISP1	HP:0002019	Constipation	HP:0040282	ORPHA:220386
84976	DISP1	HP:0002033	Poor suck	HP:0040281	ORPHA:93926
84976	DISP1	HP:0002033	Poor suck	HP:0040282	ORPHA:93924
84976	DISP1	HP:0002033	Poor suck	HP:0040281	ORPHA:93925
84976	DISP1	HP:0002033	Poor suck	HP:0040281	ORPHA:220386
84976	DISP1	HP:0002015	Dysphagia	HP:0040282	ORPHA:93926
84976	DISP1	HP:0002015	Dysphagia	HP:0040283	ORPHA:93924
84976	DISP1	HP:0002015	Dysphagia	HP:0040282	ORPHA:93925
84976	DISP1	HP:0002015	Dysphagia	HP:0040283	ORPHA:280195
84976	DISP1	HP:0002015	Dysphagia	HP:0040282	ORPHA:220386
84976	DISP1	HP:0002013	Vomiting	HP:0040282	ORPHA:93926
84976	DISP1	HP:0002013	Vomiting	HP:0040283	ORPHA:93924
84976	DISP1	HP:0002013	Vomiting	HP:0040282	ORPHA:93925
84976	DISP1	HP:0002013	Vomiting	HP:0040282	ORPHA:220386
84976	DISP1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:220386
84976	DISP1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93926
84976	DISP1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040283	ORPHA:93924
84976	DISP1	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:93925
84976	DISP1	HP:0005968	Temperature instability	HP:0040282	ORPHA:220386
84976	DISP1	HP:0005968	Temperature instability	HP:0040282	ORPHA:93926
84976	DISP1	HP:0005968	Temperature instability	HP:0040283	ORPHA:93924
84976	DISP1	HP:0005968	Temperature instability	HP:0040282	ORPHA:93925
84976	DISP1	HP:0002099	Asthma	HP:0040283	ORPHA:280200
84976	DISP1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:220386
84976	DISP1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93926
84976	DISP1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93924
84976	DISP1	HP:0011787	Central hypothyroidism	HP:0040283	ORPHA:93925
84976	DISP1	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:280195
84976	DISP1	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:280200
84976	DISP1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:220386
84976	DISP1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93926
84976	DISP1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93924
84976	DISP1	HP:0002270	Abnormality of the autonomic nervous system	HP:0040282	ORPHA:93925
84976	DISP1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93926
84976	DISP1	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:93924
84976	DISP1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:93925
84976	DISP1	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:220386
84976	DISP1	HP:0100710	Impulsivity	HP:0040282	ORPHA:280195
84976	DISP1	HP:0002247	Duodenal atresia	HP:0040283	ORPHA:280200
84976	DISP1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:220386
84976	DISP1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93926
84976	DISP1	HP:0010654	Aplasia of the falx cerebri	HP:0040283	ORPHA:93924
84976	DISP1	HP:0010654	Aplasia of the falx cerebri	HP:0040282	ORPHA:93925
84976	DISP1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93926
84976	DISP1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93924
84976	DISP1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:93925
84976	DISP1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:220386
84976	DISP1	HP:0010644	Midnasal stenosis	HP:0040281	ORPHA:280200
84976	DISP1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93926
84976	DISP1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93924
84976	DISP1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:93925
84976	DISP1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:220386
84976	DISP1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:220386
84976	DISP1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93926
84976	DISP1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93924
84976	DISP1	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:93925
84976	DISP1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:220386
84976	DISP1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93926
84976	DISP1	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:93924
84976	DISP1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:93925
84976	DISP1	HP:0001028	Hemangioma	HP:0040283	ORPHA:280200
84976	DISP1	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:280200
84976	DISP1	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:280200
84976	DISP1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:220386
84976	DISP1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93926
84976	DISP1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93924
84976	DISP1	HP:0031860	Abnormal heart rate variability	HP:0040283	ORPHA:93925
84976	DISP1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:280200
84976	DISP1	HP:0000601	Hypotelorism	HP:0040282	ORPHA:280200
84976	DISP1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93926
84976	DISP1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93924
84976	DISP1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:93925
84976	DISP1	HP:0000601	Hypotelorism	HP:0040281	ORPHA:220386
84976	DISP1	HP:0012650	Perisylvian polymicrogyria	HP:0040283	ORPHA:280195
84976	DISP1	HP:0004322	Short stature	HP:0040281	ORPHA:220386
84976	DISP1	HP:0004322	Short stature	HP:0040282	ORPHA:280200
84976	DISP1	HP:0004322	Short stature	HP:0040281	ORPHA:93926
84976	DISP1	HP:0004322	Short stature	HP:0040282	ORPHA:93924
84976	DISP1	HP:0004322	Short stature	HP:0040281	ORPHA:93925
84976	DISP1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:220386
84976	DISP1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93926
84976	DISP1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93924
84976	DISP1	HP:0006979	Sleep-wake cycle disturbance	HP:0040282	ORPHA:93925
84976	DISP1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:280200
84976	DISP1	HP:0031913	Rhombencephalosynapsis	HP:0040283	ORPHA:280195
84976	DISP1	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:280195
84976	DISP1	HP:0000737	Irritability	HP:0040282	ORPHA:93926
84976	DISP1	HP:0000737	Irritability	HP:0040282	ORPHA:93924
84976	DISP1	HP:0000737	Irritability	HP:0040282	ORPHA:93925
84976	DISP1	HP:0000737	Irritability	HP:0040282	ORPHA:220386
84976	DISP1	HP:0000739	Anxiety	HP:0040282	ORPHA:93926
84976	DISP1	HP:0000739	Anxiety	HP:0040282	ORPHA:93924
84976	DISP1	HP:0000739	Anxiety	HP:0040282	ORPHA:93925
84976	DISP1	HP:0000739	Anxiety	HP:0040282	ORPHA:220386
84976	DISP1	HP:0000736	Short attention span	HP:0040282	ORPHA:280195
84976	DISP1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:220386
84976	DISP1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93926
84976	DISP1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93924
84976	DISP1	HP:0012718	Abnormal gastrointestinal tract morphology	HP:0040283	ORPHA:93925
84976	DISP1	HP:0000741	Apathy	HP:0040282	ORPHA:220386
84976	DISP1	HP:0000741	Apathy	HP:0040282	ORPHA:93926
84976	DISP1	HP:0000741	Apathy	HP:0040283	ORPHA:93924
84976	DISP1	HP:0000741	Apathy	HP:0040282	ORPHA:93925
84976	DISP1	HP:0000716	Depression	HP:0040282	ORPHA:93926
84976	DISP1	HP:0000716	Depression	HP:0040282	ORPHA:93924
84976	DISP1	HP:0000716	Depression	HP:0040282	ORPHA:93925
84976	DISP1	HP:0000716	Depression	HP:0040282	ORPHA:220386
84976	DISP1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93926
84976	DISP1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93924
84976	DISP1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:93925
84976	DISP1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:220386
84976	DISP1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:280195
84976	DISP1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:220386
84976	DISP1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93926
84976	DISP1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93924
84976	DISP1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:93925
84976	DISP1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:220386
84976	DISP1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93926
84976	DISP1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93924
84976	DISP1	HP:0011442	Abnormal central motor function	HP:0040282	ORPHA:93925
84976	DISP1	HP:0003196	Short nose	HP:0040283	ORPHA:280200
84976	DISP1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93926
84976	DISP1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93924
84976	DISP1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:93925
84976	DISP1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:220386
84976	DISP1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:220386
84976	DISP1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93926
84976	DISP1	HP:0000873	Diabetes insipidus	HP:0040282	ORPHA:93924
84976	DISP1	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:93925
84976	DISP1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:280200
84976	DISP1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:220386
84976	DISP1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93926
84976	DISP1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93924
84976	DISP1	HP:0000871	Panhypopituitarism	HP:0040283	ORPHA:93925
84976	DISP1	HP:0000863	Central diabetes insipidus	HP:0040282	ORPHA:280195
84976	DISP1	HP:0000830	Anterior hypopituitarism	HP:0040282	ORPHA:280195
84976	DISP1	HP:0012806	Proboscis	HP:0040283	ORPHA:220386
84976	DISP1	HP:0012806	Proboscis	HP:0040283	ORPHA:93926
84976	DISP1	HP:0012806	Proboscis	HP:0040284	ORPHA:93924
84976	DISP1	HP:0012806	Proboscis	HP:0040283	ORPHA:93925
84976	DISP1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:220386
84976	DISP1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93926
84976	DISP1	HP:0000818	Abnormality of the endocrine system	HP:0040282	ORPHA:93924
84976	DISP1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:93925
84976	DISP1	HP:0000826	Precocious puberty	HP:0040282	ORPHA:280195
84976	DISP1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:280200
84976	DISP1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93926
84976	DISP1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93924
84976	DISP1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:93925
84976	DISP1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:220386
84976	DISP1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:220386
84976	DISP1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93926
84976	DISP1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93924
84976	DISP1	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:93925
84976	DISP1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:220386
84976	DISP1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93926
84976	DISP1	HP:0045005	Neural tube defect	HP:0040284	ORPHA:93924
84976	DISP1	HP:0045005	Neural tube defect	HP:0040282	ORPHA:93925
84976	DISP1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:220386
84976	DISP1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93926
84976	DISP1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93924
84976	DISP1	HP:0012285	Abnormal hypothalamus physiology	HP:0040282	ORPHA:93925
84976	DISP1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93926
84976	DISP1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93924
84976	DISP1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:93925
84976	DISP1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:220386
84976	DISP1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93926
84976	DISP1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93924
84976	DISP1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:93925
84976	DISP1	HP:0002827	Hip dislocation	HP:0040283	ORPHA:220386
84976	DISP1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93926
84976	DISP1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93924
84976	DISP1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:93925
84976	DISP1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220386
84976	DISP1	HP:0000252	Microcephaly	HP:0040283	ORPHA:280195
84976	DISP1	HP:0000252	Microcephaly	HP:0040282	ORPHA:220386
84976	DISP1	HP:0000252	Microcephaly	HP:0040282	ORPHA:280200
84976	DISP1	HP:0000252	Microcephaly	HP:0040282	ORPHA:93926
84976	DISP1	HP:0000252	Microcephaly	HP:0040283	ORPHA:93924
84976	DISP1	HP:0000252	Microcephaly	HP:0040282	ORPHA:93925
84976	DISP1	HP:0000218	High palate	HP:0040282	ORPHA:93926
84976	DISP1	HP:0000218	High palate	HP:0040282	ORPHA:93924
84976	DISP1	HP:0000218	High palate	HP:0040282	ORPHA:93925
84976	DISP1	HP:0000218	High palate	HP:0040282	ORPHA:220386
84976	DISP1	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:280195
84976	DISP1	HP:0002871	Central apnea	HP:0040282	ORPHA:220386
84976	DISP1	HP:0002871	Central apnea	HP:0040282	ORPHA:93926
84976	DISP1	HP:0002871	Central apnea	HP:0040283	ORPHA:93924
84976	DISP1	HP:0002871	Central apnea	HP:0040282	ORPHA:93925
84976	DISP1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:280200
84976	DISP1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93926
84976	DISP1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:93924
84976	DISP1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:93925
84976	DISP1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:220386
84976	DISP1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:280200
84976	DISP1	HP:0001510	Growth delay	HP:0040281	ORPHA:93926
84976	DISP1	HP:0001510	Growth delay	HP:0040282	ORPHA:93924
84976	DISP1	HP:0001510	Growth delay	HP:0040281	ORPHA:93925
84976	DISP1	HP:0001510	Growth delay	HP:0040281	ORPHA:220386
84976	DISP1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:220386
84976	DISP1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93926
84976	DISP1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93924
84976	DISP1	HP:0006528	Chronic lung disease	HP:0040282	ORPHA:93925
84976	DISP1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:280195
84976	DISP1	HP:0000322	Short philtrum	HP:0040282	ORPHA:280200
84976	DISP1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93926
84976	DISP1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93924
84976	DISP1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:93925
84976	DISP1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:220386
84976	DISP1	HP:0001622	Premature birth	HP:0040282	ORPHA:280200
84976	DISP1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:280200
84976	DISP1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93926
84976	DISP1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93924
84976	DISP1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:93925
84976	DISP1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:220386
84976	DISP1	HP:0000486	Strabismus	HP:0040283	ORPHA:280200
84976	DISP1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93926
84976	DISP1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:93924
84976	DISP1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:93925
84976	DISP1	HP:0000478	Abnormality of the eye	HP:0040281	ORPHA:220386
84976	DISP1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:280200
84976	DISP1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93926
84976	DISP1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93924
84976	DISP1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:93925
84976	DISP1	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:220386
84976	DISP1	HP:0000453	Choanal atresia	HP:0040281	ORPHA:280200
84976	DISP1	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:280200
84978	FRMD5	HP:0001270	Motor delay	8/8	OMIM:620094
84978	FRMD5	HP:0001250	Seizure	5/8	OMIM:620094
84978	FRMD5	HP:0001252	Hypotonia	5/7	OMIM:620094
84978	FRMD5	HP:0001251	Ataxia	7/8	OMIM:620094
84978	FRMD5	HP:0001249	Intellectual disability	7/7	OMIM:620094
84978	FRMD5	HP:0001263	Global developmental delay	8/8	OMIM:620094
84978	FRMD5	HP:0001257	Spasticity	4/7	OMIM:620094
84978	FRMD5	HP:0000020	Urinary incontinence	1/8	OMIM:620094
84978	FRMD5	HP:0001332	Dystonia	2/8	OMIM:620094
84978	FRMD5	HP:0000006	Autosomal dominant inheritance	-	OMIM:620094
84978	FRMD5	HP:0001336	Myoclonus	1/8	OMIM:620094
84978	FRMD5	HP:0001302	Pachygyria	1/8	OMIM:620094
84978	FRMD5	HP:0002019	Constipation	1/8	OMIM:620094
84978	FRMD5	HP:0002076	Migraine	1/8	OMIM:620094
84978	FRMD5	HP:0002188	Delayed CNS myelination	1/8	OMIM:620094
84978	FRMD5	HP:0010543	Opsoclonus	3/8	OMIM:620094
84978	FRMD5	HP:0010522	Dyslexia	1/8	OMIM:620094
84978	FRMD5	HP:0003593	Infantile onset	3/8	OMIM:620094
84978	FRMD5	HP:0011968	Feeding difficulties	2/8	OMIM:620094
84978	FRMD5	HP:0003623	Neonatal onset	5/8	OMIM:620094
84978	FRMD5	HP:0000639	Nystagmus	4/8	OMIM:620094
84978	FRMD5	HP:0000739	Anxiety	1/8	OMIM:620094
84978	FRMD5	HP:0001631	Atrial septal defect	1/8	OMIM:620094
84978	FRMD5	HP:0000486	Strabismus	1/8	OMIM:620094
84978	FRMD5	HP:0000565	Esotropia	1/8	OMIM:620094
84984	CEP19	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
84984	CEP19	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
84984	CEP19	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
84984	CEP19	HP:0001250	Seizure	HP:0040283	ORPHA:110
84984	CEP19	HP:0001251	Ataxia	HP:0040283	ORPHA:110
84984	CEP19	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
84984	CEP19	HP:0001249	Intellectual disability	3/11	OMIM:615703
84984	CEP19	HP:0001257	Spasticity	HP:0040283	ORPHA:110
84984	CEP19	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
84984	CEP19	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
84984	CEP19	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
84984	CEP19	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
84984	CEP19	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
84984	CEP19	HP:0001397	Hepatic steatosis	11/11	OMIM:615703
84984	CEP19	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
84984	CEP19	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
84984	CEP19	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
84984	CEP19	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
84984	CEP19	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
84984	CEP19	HP:0000027	Azoospermia	-	OMIM:615703
84984	CEP19	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
84984	CEP19	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
84984	CEP19	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
84984	CEP19	HP:0000007	Autosomal recessive inheritance	-	OMIM:615703
84984	CEP19	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
84984	CEP19	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
84984	CEP19	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
84984	CEP19	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
84984	CEP19	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
84984	CEP19	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
84984	CEP19	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
84984	CEP19	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
84984	CEP19	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
84984	CEP19	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
84984	CEP19	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
84984	CEP19	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
84984	CEP19	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
84984	CEP19	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
84984	CEP19	HP:0005978	Type II diabetes mellitus	3/11	OMIM:615703
84984	CEP19	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
84984	CEP19	HP:0002099	Asthma	HP:0040283	ORPHA:110
84984	CEP19	HP:0002155	Hypertriglyceridemia	4/11	OMIM:615703
84984	CEP19	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
84984	CEP19	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
84984	CEP19	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
84984	CEP19	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
84984	CEP19	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
84984	CEP19	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
84984	CEP19	HP:0003621	Juvenile onset	8/19	OMIM:180100
84984	CEP19	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
84984	CEP19	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
84984	CEP19	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
84984	CEP19	HP:0000618	Blindness	HP:0040282	ORPHA:110
84984	CEP19	HP:0000613	Photophobia	HP:0040282	ORPHA:110
84984	CEP19	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
84984	CEP19	HP:0000691	Microdontia	HP:0040283	ORPHA:110
84984	CEP19	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
84984	CEP19	HP:0000662	Nyctalopia	26/28	OMIM:180100
84984	CEP19	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
84984	CEP19	HP:0004322	Short stature	HP:0040282	ORPHA:110
84984	CEP19	HP:0000739	Anxiety	HP:0040283	ORPHA:110
84984	CEP19	HP:0000736	Short attention span	HP:0040282	ORPHA:110
84984	CEP19	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
84984	CEP19	HP:0000716	Depression	HP:0040282	ORPHA:110
84984	CEP19	HP:0000717	Autism	HP:0040282	ORPHA:110
84984	CEP19	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
84984	CEP19	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
84984	CEP19	HP:0011463	Childhood onset	3/19	OMIM:180100
84984	CEP19	HP:0011462	Young adult onset	8/19	OMIM:180100
84984	CEP19	HP:0000798	Oligozoospermia	6/6	OMIM:615703
84984	CEP19	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
84984	CEP19	HP:0000789	Infertility	HP:0040283	ORPHA:110
84984	CEP19	HP:0000789	Infertility	-	OMIM:615703
84984	CEP19	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
84984	CEP19	HP:0003124	Hypercholesterolemia	4/11	OMIM:615703
84984	CEP19	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
84984	CEP19	HP:0003141	Increased LDL cholesterol concentration	2/11	OMIM:615703
84984	CEP19	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
84984	CEP19	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
84984	CEP19	HP:0000855	Insulin resistance	-	OMIM:615703
84984	CEP19	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
84984	CEP19	HP:0000822	Hypertension	HP:0040282	ORPHA:110
84984	CEP19	HP:0000822	Hypertension	11/11	OMIM:615703
84984	CEP19	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
84984	CEP19	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
84984	CEP19	HP:0003233	Decreased HDL cholesterol concentration	6/11	OMIM:615703
84984	CEP19	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
84984	CEP19	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
84984	CEP19	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
84984	CEP19	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
84984	CEP19	HP:0000218	High palate	HP:0040282	ORPHA:110
84984	CEP19	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
84984	CEP19	HP:0001513	Obesity	10/11	OMIM:615703
84984	CEP19	HP:0001513	Obesity	HP:0040281	ORPHA:110
84984	CEP19	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
84984	CEP19	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
84984	CEP19	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
84984	CEP19	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
84984	CEP19	HP:0000388	Otitis media	HP:0040283	ORPHA:110
84984	CEP19	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
84984	CEP19	HP:0005181	Premature coronary artery atherosclerosis	5/15	OMIM:615703
84984	CEP19	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
84984	CEP19	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
84984	CEP19	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
84984	CEP19	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
84984	CEP19	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
84984	CEP19	HP:0001658	Myocardial infarction	-	OMIM:615703
84984	CEP19	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
84984	CEP19	HP:0001635	Congestive heart failure	-	OMIM:615703
84984	CEP19	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
84984	CEP19	HP:0000400	Macrotia	HP:0040283	ORPHA:110
84984	CEP19	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
84984	CEP19	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
84984	CEP19	HP:0000486	Strabismus	HP:0040283	ORPHA:110
84984	CEP19	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
84984	CEP19	HP:0000470	Short neck	HP:0040283	ORPHA:110
84984	CEP19	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
84984	CEP19	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
84984	CEP19	HP:0000518	Cataract	HP:0040283	ORPHA:110
84984	CEP19	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
84984	CEP19	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
84984	CEP19	HP:0000575	Scotoma	5/18	OMIM:180100
84984	CEP19	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
84984	CEP19	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
84984	CEP19	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
84984	CEP19	HP:0000543	Optic disc pallor	1/1	OMIM:180100
84984	CEP19	HP:0000545	Myopia	-	OMIM:180100
84987	COX14	HP:0002490	Increased CSF lactate	1/1	OMIM:619053
84987	COX14	HP:0000089	Renal hypoplasia	1/1	OMIM:619053
84987	COX14	HP:0000007	Autosomal recessive inheritance	-	OMIM:619053
84987	COX14	HP:0002643	Neonatal respiratory distress	1/1	OMIM:619053
84987	COX14	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:619053
84987	COX14	HP:0002240	Hepatomegaly	1/1	OMIM:619053
84987	COX14	HP:0001942	Metabolic acidosis	1/1	OMIM:619053
84987	COX14	HP:0000601	Hypotelorism	1/1	OMIM:619053
84987	COX14	HP:0011400	Abnormal CNS myelination	1/1	OMIM:619053
84987	COX14	HP:0000954	Single transverse palmar crease	1/1	OMIM:619053
84987	COX14	HP:0000218	High palate	1/1	OMIM:619053
84987	COX14	HP:0001562	Oligohydramnios	1/1	OMIM:619053
84987	COX14	HP:0002919	Ketonuria	1/1	OMIM:619053
84987	COX14	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:619053
84987	COX14	HP:0000568	Microphthalmia	1/1	OMIM:619053
84992	PIGY	HP:0001181	Adducted thumb	1/2	OMIM:616809
84992	PIGY	HP:0010943	Echogenic fetal bowel	1/2	OMIM:616809
84992	PIGY	HP:0001195	Single umbilical artery	HP:0040283	ORPHA:247262
84992	PIGY	HP:0009894	Thickened ears	1/2	OMIM:616809
84992	PIGY	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:247262
84992	PIGY	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:247262
84992	PIGY	HP:0001288	Gait disturbance	HP:0040283	ORPHA:247262
84992	PIGY	HP:0001250	Seizure	2/2	OMIM:616809
84992	PIGY	HP:0001250	Seizure	HP:0040281	ORPHA:247262
84992	PIGY	HP:0001251	Ataxia	HP:0040283	ORPHA:247262
84992	PIGY	HP:0001249	Intellectual disability	HP:0040282	ORPHA:247262
84992	PIGY	HP:0001263	Global developmental delay	2/2	OMIM:616809
84992	PIGY	HP:0001263	Global developmental delay	HP:0040281	ORPHA:247262
84992	PIGY	HP:0002558	Supernumerary nipple	HP:0040283	ORPHA:247262
84992	PIGY	HP:0006118	Shortening of all distal phalanges of the fingers	HP:0040281	ORPHA:247262
84992	PIGY	HP:0006118	Shortening of all distal phalanges of the fingers	2/2	OMIM:616809
84992	PIGY	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:247262
84992	PIGY	HP:0003819	Death in childhood	1/2	OMIM:616809
84992	PIGY	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:247262
84992	PIGY	HP:0001385	Hip dysplasia	2/2	OMIM:616809
84992	PIGY	HP:0000023	Inguinal hernia	1/2	OMIM:616809
84992	PIGY	HP:0002696	Abnormal parietal bone morphology	HP:0040283	ORPHA:247262
84992	PIGY	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000007	Autosomal recessive inheritance	-	OMIM:616809
84992	PIGY	HP:0001336	Myoclonus	HP:0040283	ORPHA:247262
84992	PIGY	HP:0002650	Scoliosis	HP:0040283	ORPHA:247262
84992	PIGY	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000193	Bifid uvula	HP:0040283	ORPHA:247262
84992	PIGY	HP:0008947	Floppy infant	HP:0040281	ORPHA:247262
84992	PIGY	HP:0008936	Axial hypotonia	2/2	OMIM:616809
84992	PIGY	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:247262
84992	PIGY	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:247262
84992	PIGY	HP:0004691	2-3 toe syndactyly	2/2	OMIM:616809
84992	PIGY	HP:0002027	Abdominal pain	2/2	OMIM:616809
84992	PIGY	HP:0002013	Vomiting	1/2	OMIM:616809
84992	PIGY	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:247262
84992	PIGY	HP:0033165	Necrotizing enterocolitis	1/2	OMIM:616809
84992	PIGY	HP:0004742	Abnormal renal collecting system morphology	-	OMIM:616809
84992	PIGY	HP:0004719	Hyperechogenic kidneys	1/2	OMIM:616809
84992	PIGY	HP:0003577	Congenital onset	2/2	OMIM:616809
84992	PIGY	HP:0100704	Cerebral visual impairment	2/2	OMIM:616809
84992	PIGY	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:247262
84992	PIGY	HP:0009748	Large earlobe	1/2	OMIM:616809
84992	PIGY	HP:0011968	Feeding difficulties	2/2	OMIM:616809
84992	PIGY	HP:0002392	EEG with polyspike wave complexes	HP:0040283	ORPHA:247262
84992	PIGY	HP:0002376	Developmental regression	1/2	OMIM:616809
84992	PIGY	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:247262
84992	PIGY	HP:0001009	Telangiectasia	HP:0040283	ORPHA:247262
84992	PIGY	HP:0010844	EEG with multifocal slow activity	1/2	OMIM:616809
84992	PIGY	HP:0009826	Limb undergrowth	1/2	OMIM:616809
84992	PIGY	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:247262
84992	PIGY	HP:0004209	Clinodactyly of the 5th finger	1/2	OMIM:616809
84992	PIGY	HP:0006808	Cerebral hypomyelination	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:247262
84992	PIGY	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:247262
84992	PIGY	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:247262
84992	PIGY	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000718	Aggressive behavior	-	OMIM:616809
84992	PIGY	HP:0000729	Autistic behavior	HP:0040283	ORPHA:247262
84992	PIGY	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:247262
84992	PIGY	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040281	ORPHA:247262
84992	PIGY	HP:0003155	Elevated circulating alkaline phosphatase concentration	2/2	OMIM:616809
84992	PIGY	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:616809
84992	PIGY	HP:0003273	Hip contracture	2/2	OMIM:616809
84992	PIGY	HP:0000938	Osteopenia	2/2	OMIM:616809
84992	PIGY	HP:0040194	Increased head circumference	HP:0040283	ORPHA:247262
84992	PIGY	HP:0040195	Decreased head circumference	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000286	Epicanthus	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000280	Coarse facial features	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000289	Broad philtrum	HP:0040283	ORPHA:247262
84992	PIGY	HP:0030084	Clinodactyly	HP:0040283	ORPHA:247262
84992	PIGY	HP:0006380	Knee flexion contracture	1/2	OMIM:616809
84992	PIGY	HP:0000248	Brachycephaly	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000218	High palate	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000218	High palate	2/2	OMIM:616809
84992	PIGY	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:247262
84992	PIGY	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:247262
84992	PIGY	HP:0001561	Polyhydramnios	1/2	OMIM:616809
84992	PIGY	HP:0001522	Death in infancy	1/2	OMIM:616809
84992	PIGY	HP:0001510	Growth delay	HP:0040282	ORPHA:247262
84992	PIGY	HP:0001510	Growth delay	1/2	OMIM:616809
84992	PIGY	HP:0000378	Cupped ear	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000391	Thickened helices	HP:0040283	ORPHA:247262
84992	PIGY	HP:0006528	Chronic lung disease	1/2	OMIM:616809
84992	PIGY	HP:0000341	Narrow forehead	2/2	OMIM:616809
84992	PIGY	HP:0000347	Micrognathia	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000316	Hypertelorism	HP:0040281	ORPHA:247262
84992	PIGY	HP:0000311	Round face	HP:0040283	ORPHA:247262
84992	PIGY	HP:0002987	Elbow flexion contracture	1/2	OMIM:616809
84992	PIGY	HP:0000322	Short philtrum	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:247262
84992	PIGY	HP:0005280	Depressed nasal bridge	2/2	OMIM:616809
84992	PIGY	HP:0000490	Deeply set eye	2/2	OMIM:616809
84992	PIGY	HP:0001792	Small nail	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000463	Anteverted nares	2/2	OMIM:616809
84992	PIGY	HP:0000470	Short neck	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000470	Short neck	1/2	OMIM:616809
84992	PIGY	HP:0001770	Toe syndactyly	1/2	OMIM:616809
84992	PIGY	HP:0000414	Bulbous nose	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:247262
84992	PIGY	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000519	Developmental cataract	2/2	OMIM:616809
84992	PIGY	HP:0000505	Visual impairment	1/2	OMIM:616809
84992	PIGY	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000594	Shallow anterior chamber	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000565	Esotropia	HP:0040283	ORPHA:247262
84992	PIGY	HP:0000540	Hypermetropia	HP:0040283	ORPHA:247262
85007	PHYKPL	HP:6000806	Elevated urinary phosphohydroxylysine level	3/3	OMIM:615011
85007	PHYKPL	HP:0000007	Autosomal recessive inheritance	-	OMIM:615011
85007	PHYKPL	HP:0031870	Phosphohydroxylysinuria	1/1	OMIM:615011
85015	USP45	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
85015	USP45	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
85015	USP45	HP:0001270	Motor delay	HP:0040283	ORPHA:65
85015	USP45	HP:0001250	Seizure	HP:0040282	ORPHA:65
85015	USP45	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
85015	USP45	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
85015	USP45	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
85015	USP45	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
85015	USP45	HP:0000007	Autosomal recessive inheritance	-	OMIM:618513
85015	USP45	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
85015	USP45	HP:0001483	Eye poking	HP:0040282	ORPHA:65
85015	USP45	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
85015	USP45	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
85015	USP45	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
85015	USP45	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
85015	USP45	HP:0003621	Juvenile onset	8/19	OMIM:180100
85015	USP45	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
85015	USP45	HP:0000639	Nystagmus	1/2	OMIM:618513
85015	USP45	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
85015	USP45	HP:0000613	Photophobia	HP:0040282	ORPHA:65
85015	USP45	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
85015	USP45	HP:0000662	Nyctalopia	26/28	OMIM:180100
85015	USP45	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	-	OMIM:618513
85015	USP45	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
85015	USP45	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
85015	USP45	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
85015	USP45	HP:0011463	Childhood onset	3/19	OMIM:180100
85015	USP45	HP:0011462	Young adult onset	8/19	OMIM:180100
85015	USP45	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
85015	USP45	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
85015	USP45	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:618513
85015	USP45	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
85015	USP45	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
85015	USP45	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
85015	USP45	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
85015	USP45	HP:0000518	Cataract	HP:0040282	ORPHA:65
85015	USP45	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
85015	USP45	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
85015	USP45	HP:0000505	Visual impairment	-	OMIM:618513
85015	USP45	HP:0000575	Scotoma	5/18	OMIM:180100
85015	USP45	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
85015	USP45	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
85015	USP45	HP:0000546	Retinal degeneration	-	OMIM:618513
85015	USP45	HP:0000543	Optic disc pallor	2/2	OMIM:618513
85015	USP45	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
85015	USP45	HP:0000543	Optic disc pallor	1/1	OMIM:180100
85015	USP45	HP:0000545	Myopia	-	OMIM:180100
85016	CFAP300	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
85016	CFAP300	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
85016	CFAP300	HP:0001217	Clubbing	HP:0040283	ORPHA:244
85016	CFAP300	HP:0000007	Autosomal recessive inheritance	-	OMIM:618063
85016	CFAP300	HP:0002643	Neonatal respiratory distress	3/3	OMIM:618063
85016	CFAP300	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
85016	CFAP300	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
85016	CFAP300	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
85016	CFAP300	HP:0031245	Productive cough	HP:0040282	ORPHA:244
85016	CFAP300	HP:0031245	Productive cough	3/3	OMIM:618063
85016	CFAP300	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
85016	CFAP300	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
85016	CFAP300	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
85016	CFAP300	HP:0002110	Bronchiectasis	-	OMIM:618063
85016	CFAP300	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
85016	CFAP300	HP:0008222	Female infertility	HP:0040283	ORPHA:244
85016	CFAP300	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
85016	CFAP300	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
85016	CFAP300	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
85016	CFAP300	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
85016	CFAP300	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
85016	CFAP300	HP:0003623	Neonatal onset	3/3	OMIM:618063
85016	CFAP300	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
85016	CFAP300	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
85016	CFAP300	HP:0000789	Infertility	-	OMIM:618063
85016	CFAP300	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
85016	CFAP300	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
85016	CFAP300	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
85016	CFAP300	HP:0030828	Wheezing	HP:0040283	ORPHA:244
85016	CFAP300	HP:0003251	Male infertility	HP:0040282	ORPHA:244
85016	CFAP300	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
85016	CFAP300	HP:0033036	Decreased nasal nitric oxide	1/1	OMIM:618063
85016	CFAP300	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
85016	CFAP300	HP:0012259	Absent inner and outer dynein arms	3/3	OMIM:618063
85016	CFAP300	HP:0012263	Immotile cilia	3/3	OMIM:618063
85016	CFAP300	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
85016	CFAP300	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
85016	CFAP300	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
85016	CFAP300	HP:0012384	Rhinitis	-	OMIM:618063
85016	CFAP300	HP:0000389	Chronic otitis media	-	OMIM:618063
85016	CFAP300	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
85016	CFAP300	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
85016	CFAP300	HP:0001696	Situs inversus totalis	2/3	OMIM:618063
85016	CFAP300	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
85016	CFAP300	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
85016	CFAP300	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
85016	CFAP300	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
85016	CFAP300	HP:0001651	Dextrocardia	2/3	OMIM:618063
85016	CFAP300	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
85016	CFAP300	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
85016	CFAP300	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
85016	CFAP300	HP:0000405	Conductive hearing impairment	HP:0040284	OMIM:618063
85016	CFAP300	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
85016	CFAP300	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
85016	CFAP300	HP:0011109	Chronic sinusitis	-	OMIM:618063
85016	CFAP300	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
85016	CFAP300	HP:0001746	Asplenia	HP:0040284	ORPHA:244
85016	CFAP300	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
85016	CFAP300	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
85016	CFAP300	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
85016	CFAP300	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
85016	CFAP300	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
85021	REPS1	HP:0002415	Leukodystrophy	1/2	OMIM:617916
85021	REPS1	HP:0001272	Cerebellar atrophy	2/2	OMIM:617916
85021	REPS1	HP:0001270	Motor delay	1/2	OMIM:617916
85021	REPS1	HP:0001252	Hypotonia	1/2	OMIM:617916
85021	REPS1	HP:0001251	Ataxia	2/2	OMIM:617916
85021	REPS1	HP:0001260	Dysarthria	1/2	OMIM:617916
85021	REPS1	HP:0033643	Increased circulating very long-chain fatty acid concentration	1/2	OMIM:617916
85021	REPS1	HP:0002505	Loss of ambulation	2/2	OMIM:617916
85021	REPS1	HP:0002503	Spinocerebellar tract degeneration	1/2	OMIM:617916
85021	REPS1	HP:0001348	Brisk reflexes	1/2	OMIM:617916
85021	REPS1	HP:0001332	Dystonia	1/2	OMIM:617916
85021	REPS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617916
85021	REPS1	HP:0001337	Tremor	1/2	OMIM:617916
85021	REPS1	HP:0001310	Dysmetria	1/2	OMIM:617916
85021	REPS1	HP:0008936	Axial hypotonia	1/2	OMIM:617916
85021	REPS1	HP:0002015	Dysphagia	1/2	OMIM:617916
85021	REPS1	HP:0002061	Lower limb spasticity	1/2	OMIM:617916
85021	REPS1	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:617916
85021	REPS1	HP:0002059	Cerebral atrophy	1/2	OMIM:617916
85021	REPS1	HP:0003593	Infantile onset	2/2	OMIM:617916
85021	REPS1	HP:0003676	Progressive	-	OMIM:617916
85021	REPS1	HP:0000639	Nystagmus	1/2	OMIM:617916
85021	REPS1	HP:0012675	Iron accumulation in brain	2/2	OMIM:617916
85021	REPS1	HP:0000763	Sensory neuropathy	1/2	OMIM:617916
85021	REPS1	HP:0000750	Delayed speech and language development	2/2	OMIM:617916
85021	REPS1	HP:0001761	Pes cavus	1/2	OMIM:617916
85300	ATCAY	HP:0002470	Nonprogressive cerebellar ataxia	HP:0040281	ORPHA:94122
85300	ATCAY	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:94122
85300	ATCAY	HP:0001272	Cerebellar atrophy	5/5	OMIM:601238
85300	ATCAY	HP:0001252	Hypotonia	-	OMIM:601238
85300	ATCAY	HP:0001251	Ataxia	5/5	OMIM:601238
85300	ATCAY	HP:0001260	Dysarthria	-	OMIM:601238
85300	ATCAY	HP:0001260	Dysarthria	HP:0040282	ORPHA:94122
85300	ATCAY	HP:0001263	Global developmental delay	HP:0040282	ORPHA:94122
85300	ATCAY	HP:0001263	Global developmental delay	-	OMIM:601238
85300	ATCAY	HP:0001332	Dystonia	2/5	OMIM:601238
85300	ATCAY	HP:0000007	Autosomal recessive inheritance	-	OMIM:601238
85300	ATCAY	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:94122
85300	ATCAY	HP:0001321	Cerebellar hypoplasia	-	OMIM:601238
85300	ATCAY	HP:0002080	Intention tremor	HP:0040282	ORPHA:94122
85300	ATCAY	HP:0002080	Intention tremor	-	OMIM:601238
85300	ATCAY	HP:0002067	Bradykinesia	3/5	OMIM:601238
85300	ATCAY	HP:0002066	Gait ataxia	HP:0040282	ORPHA:94122
85300	ATCAY	HP:0002066	Gait ataxia	15/15	OMIM:601238
85300	ATCAY	HP:0002078	Truncal ataxia	HP:0040282	ORPHA:94122
85300	ATCAY	HP:0002078	Truncal ataxia	-	OMIM:601238
85300	ATCAY	HP:0002136	Broad-based gait	HP:0040282	ORPHA:94122
85300	ATCAY	HP:0002136	Broad-based gait	-	OMIM:601238
85300	ATCAY	HP:0003593	Infantile onset	5/5	OMIM:601238
85300	ATCAY	HP:0003577	Congenital onset	-	OMIM:601238
85300	ATCAY	HP:0000639	Nystagmus	-	OMIM:601238
85300	ATCAY	HP:0000639	Nystagmus	HP:0040282	ORPHA:94122
85300	ATCAY	HP:0003202	Skeletal muscle atrophy	3/5	OMIM:601238
85300	ATCAY	HP:0000338	Hypomimic face	5/5	OMIM:601238
85300	ATCAY	HP:0000486	Strabismus	4/5	OMIM:601238
85300	ATCAY	HP:0000479	Abnormal retinal morphology	0/5	OMIM:601238
85300	ATCAY	HP:0000479	Abnormal retinal morphology	-	ORPHA:94122
85300	ATCAY	HP:0001763	Pes planus	5/5	OMIM:601238
85301	COL27A1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
85301	COL27A1	HP:0001293	Cranial nerve compression	-	OMIM:131300
85301	COL27A1	HP:0001252	Hypotonia	2/7	OMIM:615777
85301	COL27A1	HP:0001249	Intellectual disability	5/7	OMIM:615777
85301	COL27A1	HP:0001263	Global developmental delay	HP:0040284	OMIM:615155
85301	COL27A1	HP:0001263	Global developmental delay	-	OMIM:615777
85301	COL27A1	HP:0002515	Waddling gait	54/102	OMIM:131300
85301	COL27A1	HP:0001377	Limited elbow extension	1/2	OMIM:615155
85301	COL27A1	HP:0001382	Joint hypermobility	-	OMIM:615777
85301	COL27A1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
85301	COL27A1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
85301	COL27A1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
85301	COL27A1	HP:0001324	Muscle weakness	40/96	OMIM:131300
85301	COL27A1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
85301	COL27A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615155
85301	COL27A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
85301	COL27A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
85301	COL27A1	HP:0002650	Scoliosis	2/2	OMIM:615155
85301	COL27A1	HP:0002650	Scoliosis	12/14	OMIM:131300
85301	COL27A1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
85301	COL27A1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
85301	COL27A1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
85301	COL27A1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
85301	COL27A1	HP:0000175	Cleft palate	2/7	OMIM:615777
85301	COL27A1	HP:0011800	Midface retrusion	2/2	OMIM:615155
85301	COL27A1	HP:0003388	Easy fatigability	36/76	OMIM:131300
85301	COL27A1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
85301	COL27A1	HP:0003593	Infantile onset	1/2	OMIM:615155
85301	COL27A1	HP:0009702	Carpal synostosis	2/2	OMIM:615155
85301	COL27A1	HP:0003510	Severe short stature	7/7	OMIM:615777
85301	COL27A1	HP:0002315	Headache	-	OMIM:131300
85301	COL27A1	HP:0004976	Knee dislocation	6/7	OMIM:615777
85301	COL27A1	HP:0009803	Short phalanx of finger	-	OMIM:615777
85301	COL27A1	HP:0009763	Limb pain	63/92	OMIM:131300
85301	COL27A1	HP:0003621	Juvenile onset	-	OMIM:131300
85301	COL27A1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
85301	COL27A1	HP:0004209	Clinodactyly of the 5th finger	2/2	OMIM:615155
85301	COL27A1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
85301	COL27A1	HP:6001056	Out-toeing	-	OMIM:131300
85301	COL27A1	HP:0000651	Diplopia	-	OMIM:131300
85301	COL27A1	HP:0001956	Truncal obesity	2/7	OMIM:615777
85301	COL27A1	HP:0001903	Anemia	HP:0040283	OMIM:131300
85301	COL27A1	HP:0010049	Short metacarpal	-	OMIM:615777
85301	COL27A1	HP:0000678	Dental crowding	-	OMIM:615777
85301	COL27A1	HP:0000670	Carious teeth	-	OMIM:131300
85301	COL27A1	HP:0011304	Broad thumb	2/7	OMIM:615777
85301	COL27A1	HP:0000668	Hypodontia	-	OMIM:615777
85301	COL27A1	HP:0000664	Synophrys	-	OMIM:615777
85301	COL27A1	HP:0004322	Short stature	2/2	OMIM:615155
85301	COL27A1	HP:0003083	Dislocated radial head	1/2	OMIM:615155
85301	COL27A1	HP:0004396	Poor appetite	-	OMIM:131300
85301	COL27A1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
85301	COL27A1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
85301	COL27A1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
85301	COL27A1	HP:0003026	Short long bone	7/7	OMIM:615777
85301	COL27A1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
85301	COL27A1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
85301	COL27A1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
85301	COL27A1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
85301	COL27A1	HP:0000750	Delayed speech and language development	-	OMIM:615777
85301	COL27A1	HP:0011463	Childhood onset	1/2	OMIM:615155
85301	COL27A1	HP:0011461	Fetal onset	7/7	OMIM:615777
85301	COL27A1	HP:0000774	Narrow chest	2/7	OMIM:615777
85301	COL27A1	HP:0000926	Platyspondyly	1/7	OMIM:615777
85301	COL27A1	HP:0003180	Flat acetabular roof	-	OMIM:615777
85301	COL27A1	HP:0004482	Relative macrocephaly	-	OMIM:615777
85301	COL27A1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
85301	COL27A1	HP:0000823	Delayed puberty	-	OMIM:131300
85301	COL27A1	HP:0000894	Short clavicles	-	OMIM:615777
85301	COL27A1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
85301	COL27A1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
85301	COL27A1	HP:0000286	Epicanthus	1/7	OMIM:615777
85301	COL27A1	HP:0000280	Coarse facial features	2/7	OMIM:615777
85301	COL27A1	HP:0002812	Coxa vara	1/2	OMIM:615155
85301	COL27A1	HP:0002827	Hip dislocation	2/2	OMIM:615155
85301	COL27A1	HP:0002827	Hip dislocation	3/7	OMIM:615777
85301	COL27A1	HP:0000252	Microcephaly	-	OMIM:615777
85301	COL27A1	HP:0002857	Genu valgum	-	OMIM:131300
85301	COL27A1	HP:0001533	Slender build	-	OMIM:131300
85301	COL27A1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
85301	COL27A1	HP:0007807	Optic nerve compression	-	OMIM:131300
85301	COL27A1	HP:0012368	Flat face	7/7	OMIM:615777
85301	COL27A1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
85301	COL27A1	HP:0002938	Lumbar hyperlordosis	1/2	OMIM:615155
85301	COL27A1	HP:0000365	Hearing impairment	10/67	OMIM:131300
85301	COL27A1	HP:0000343	Long philtrum	1/7	OMIM:615777
85301	COL27A1	HP:0011001	Increased bone mineral density	-	OMIM:131300
85301	COL27A1	HP:0000316	Hypertelorism	-	OMIM:615155
85301	COL27A1	HP:0000311	Round face	2/7	OMIM:615777
85301	COL27A1	HP:0002970	Genu varum	-	OMIM:615777
85301	COL27A1	HP:0000303	Mandibular prognathia	-	OMIM:131300
85301	COL27A1	HP:0000407	Sensorineural hearing impairment	HP:0040284	OMIM:615155
85301	COL27A1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
85301	COL27A1	HP:0000463	Anteverted nares	2/2	OMIM:615155
85301	COL27A1	HP:0000470	Short neck	1/7	OMIM:615777
85301	COL27A1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
85301	COL27A1	HP:0001763	Pes planus	1/2	OMIM:615155
85301	COL27A1	HP:0001763	Pes planus	1/7	OMIM:615777
85301	COL27A1	HP:0000431	Wide nasal bridge	-	OMIM:615155
85301	COL27A1	HP:0001761	Pes cavus	0/2	OMIM:615155
85301	COL27A1	HP:0001840	Metatarsus adductus	-	OMIM:615777
85301	COL27A1	HP:0000520	Proptosis	2/4	OMIM:131300
85301	COL27A1	HP:0000520	Proptosis	7/7	OMIM:615777
85301	COL27A1	HP:0000592	Blue sclerae	2/7	OMIM:615777
85301	COL27A1	HP:0011220	Prominent forehead	-	OMIM:615155
85301	COL27A1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
85301	COL27A1	HP:0012514	Lower limb pain	4/4	OMIM:131300
85358	SHANK3	HP:0001176	Large hands	6/13	OMIM:606232
85358	SHANK3	HP:0007328	Impaired pain sensation	HP:0040282	OMIM:606232
85358	SHANK3	HP:0003745	Sporadic	-	OMIM:606232
85358	SHANK3	HP:0003763	Bruxism	HP:0040282	OMIM:606232
85358	SHANK3	HP:0001290	Generalized hypotonia	4/12	OMIM:606232
85358	SHANK3	HP:0001270	Motor delay	-	OMIM:606232
85358	SHANK3	HP:0001250	Seizure	4/13	OMIM:606232
85358	SHANK3	HP:0001249	Intellectual disability	2/4	OMIM:613950
85358	SHANK3	HP:0001265	Hyporeflexia	-	OMIM:606232
85358	SHANK3	HP:0001263	Global developmental delay	23/23	OMIM:606232
85358	SHANK3	HP:0002572	Episodic vomiting	HP:0040282	OMIM:606232
85358	SHANK3	HP:0002518	Abnormal periventricular white matter morphology	HP:0040283	OMIM:606232
85358	SHANK3	HP:0000098	Tall stature	HP:0040281	OMIM:606232
85358	SHANK3	HP:0000077	Abnormality of the kidney	12/32	OMIM:606232
85358	SHANK3	HP:0000076	Vesicoureteral reflux	HP:0040283	OMIM:606232
85358	SHANK3	HP:0001382	Joint hypermobility	8/32	OMIM:606232
85358	SHANK3	HP:0000006	Autosomal dominant inheritance	-	OMIM:606232
85358	SHANK3	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
85358	SHANK3	HP:0000006	Autosomal dominant inheritance	-	OMIM:613950
85358	SHANK3	HP:0001319	Neonatal hypotonia	HP:0040281	OMIM:606232
85358	SHANK3	HP:0002619	Varicose veins	-	OMIM:153400
85358	SHANK3	HP:0000175	Cleft palate	5/39	OMIM:153400
85358	SHANK3	HP:0000113	Polycystic kidney dysplasia	HP:0040283	OMIM:606232
85358	SHANK3	HP:0002719	Recurrent infections	4/13	OMIM:606232
85358	SHANK3	HP:0002020	Gastroesophageal reflux	HP:0040282	OMIM:606232
85358	SHANK3	HP:0004691	2-3 toe syndactyly	HP:0040282	OMIM:606232
85358	SHANK3	HP:0100540	Palpebral edema	HP:0040282	OMIM:606232
85358	SHANK3	HP:0002046	Heat intolerance	HP:0040282	OMIM:606232
85358	SHANK3	HP:0002119	Ventriculomegaly	HP:0040283	OMIM:606232
85358	SHANK3	HP:0002136	Broad-based gait	HP:0040282	OMIM:606232
85358	SHANK3	HP:0002188	Delayed CNS myelination	HP:0040283	OMIM:606232
85358	SHANK3	HP:0100703	Tongue thrusting	15%	OMIM:606232
85358	SHANK3	HP:0100704	Cerebral visual impairment	6%	OMIM:606232
85358	SHANK3	HP:0100702	Arachnoid cyst	15%	OMIM:606232
85358	SHANK3	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
85358	SHANK3	HP:0009743	Distichiasis	42/42	OMIM:153400
85358	SHANK3	HP:0100797	Toenail dysplasia	-	OMIM:606232
85358	SHANK3	HP:0100753	Schizophrenia	4/4	OMIM:613950
85358	SHANK3	HP:0011968	Feeding difficulties	5/12	OMIM:606232
85358	SHANK3	HP:0002360	Sleep abnormality	HP:0040283	OMIM:606232
85358	SHANK3	HP:0002342	Intellectual disability, moderate	-	OMIM:606232
85358	SHANK3	HP:0001004	Lymphedema	8/23	OMIM:606232
85358	SHANK3	HP:0001004	Lymphedema	-	OMIM:153400
85358	SHANK3	HP:0002317	Unsteady gait	HP:0040282	OMIM:606232
85358	SHANK3	HP:0100658	Cellulitis	10%	OMIM:606232
85358	SHANK3	HP:0100658	Cellulitis	2/6	OMIM:153400
85358	SHANK3	HP:0003621	Juvenile onset	1/4	OMIM:613950
85358	SHANK3	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	OMIM:606232
85358	SHANK3	HP:0000613	Photophobia	10/49	OMIM:153400
85358	SHANK3	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
85358	SHANK3	HP:0000689	Dental malocclusion	HP:0040282	OMIM:606232
85358	SHANK3	HP:0000687	Widely spaced teeth	6/32	OMIM:606232
85358	SHANK3	HP:0000656	Ectropion	2/43	OMIM:153400
85358	SHANK3	HP:0003011	Abnormality of the musculature	-	OMIM:153400
85358	SHANK3	HP:0000752	Hyperactivity	1/4	OMIM:613950
85358	SHANK3	HP:0000733	Motor stereotypy	HP:0040282	OMIM:606232
85358	SHANK3	HP:0000750	Delayed speech and language development	13/13	OMIM:606232
85358	SHANK3	HP:0000718	Aggressive behavior	25%	OMIM:606232
85358	SHANK3	HP:0000717	Autism	HP:0040282	OMIM:606232
85358	SHANK3	HP:0000710	Hyperorality	HP:0040282	OMIM:606232
85358	SHANK3	HP:0000708	Atypical behavior	21/23	OMIM:606232
85358	SHANK3	HP:0011462	Young adult onset	3/4	OMIM:613950
85358	SHANK3	HP:0012760	Reduced social responsiveness	HP:0040282	OMIM:606232
85358	SHANK3	HP:0012804	Corneal ulceration	-	OMIM:153400
85358	SHANK3	HP:0000817	Reduced eye contact	HP:0040282	OMIM:606232
85358	SHANK3	HP:0010310	Chylothorax	1/6	OMIM:153400
85358	SHANK3	HP:0000966	Hypohidrosis	HP:0040282	OMIM:606232
85358	SHANK3	HP:0000960	Sacral dimple	HP:0040282	OMIM:606232
85358	SHANK3	HP:0011675	Arrhythmia	-	OMIM:153400
85358	SHANK3	HP:0000286	Epicanthus	4/13	OMIM:606232
85358	SHANK3	HP:0000293	Full cheeks	HP:0040282	OMIM:606232
85358	SHANK3	HP:0000256	Macrocephaly	10/32	OMIM:606232
85358	SHANK3	HP:0000272	Malar flattening	HP:0040282	OMIM:606232
85358	SHANK3	HP:0000268	Dolichocephaly	13/42	OMIM:606232
85358	SHANK3	HP:0002808	Kyphosis	2/5	OMIM:153400
85358	SHANK3	HP:0000252	Microcephaly	HP:0040284	OMIM:606232
85358	SHANK3	HP:0000218	High palate	13/42	OMIM:606232
85358	SHANK3	HP:0000204	Cleft upper lip	-	OMIM:153400
85358	SHANK3	HP:0000365	Hearing impairment	20%	OMIM:606232
85358	SHANK3	HP:0000343	Long philtrum	10/42	OMIM:606232
85358	SHANK3	HP:0000336	Prominent supraorbital ridges	-	OMIM:606232
85358	SHANK3	HP:0000347	Micrognathia	2/5	OMIM:153400
85358	SHANK3	HP:0000347	Micrognathia	4/32	OMIM:606232
85358	SHANK3	HP:0000316	Hypertelorism	4/32	OMIM:606232
85358	SHANK3	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
85358	SHANK3	HP:0001643	Patent ductus arteriosus	HP:0040283	OMIM:606232
85358	SHANK3	HP:0000331	Short chin	-	OMIM:606232
85358	SHANK3	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
85358	SHANK3	HP:0001629	Ventricular septal defect	HP:0040283	OMIM:606232
85358	SHANK3	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
85358	SHANK3	HP:0000307	Pointed chin	10/45	OMIM:606232
85358	SHANK3	HP:0000400	Macrotia	9/13	OMIM:606232
85358	SHANK3	HP:0000486	Strabismus	HP:0040282	OMIM:606232
85358	SHANK3	HP:0000476	Cystic hygroma	2/43	OMIM:153400
85358	SHANK3	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
85358	SHANK3	HP:0000490	Deeply set eye	HP:0040282	OMIM:606232
85358	SHANK3	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
85358	SHANK3	HP:0011120	Concave nasal ridge	-	OMIM:606232
85358	SHANK3	HP:0000465	Webbed neck	6/43	OMIM:153400
85358	SHANK3	HP:0000414	Bulbous nose	9/13	OMIM:606232
85358	SHANK3	HP:0000411	Protruding ear	-	OMIM:606232
85358	SHANK3	HP:0000431	Wide nasal bridge	10/42	OMIM:606232
85358	SHANK3	HP:0000527	Long eyelashes	HP:0040282	OMIM:606232
85358	SHANK3	HP:0000509	Conjunctivitis	-	OMIM:153400
85358	SHANK3	HP:0000508	Ptosis	2/39	OMIM:153400
85358	SHANK3	HP:0000508	Ptosis	HP:0040282	OMIM:606232
85358	SHANK3	HP:0001800	Hypoplastic toenails	HP:0040282	OMIM:606232
85358	SHANK3	HP:0000574	Thick eyebrow	HP:0040282	OMIM:606232
85358	SHANK3	HP:0000568	Microphthalmia	1/6	OMIM:153400
85365	ALG2	HP:0002460	Distal muscle weakness	HP:0040284	ORPHA:353327
85365	ALG2	HP:0010864	Intellectual disability, severe	3/3	OMIM:607906
85365	ALG2	HP:0002421	Poor head control	HP:0040283	ORPHA:353327
85365	ALG2	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:353327
85365	ALG2	HP:0001290	Generalized hypotonia	2/3	OMIM:607906
85365	ALG2	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:353327
85365	ALG2	HP:0001270	Motor delay	5/5	OMIM:616228
85365	ALG2	HP:0001270	Motor delay	2/3	OMIM:607906
85365	ALG2	HP:0001270	Motor delay	HP:0040282	ORPHA:353327
85365	ALG2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:353327
85365	ALG2	HP:0001284	Areflexia	HP:0040282	ORPHA:353327
85365	ALG2	HP:0001250	Seizure	HP:0040282	ORPHA:79326
85365	ALG2	HP:0001252	Hypotonia	3/5	OMIM:616228
85365	ALG2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:79326
85365	ALG2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:79326
85365	ALG2	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:79326
85365	ALG2	HP:0002521	Hypsarrhythmia	1/1	OMIM:607906
85365	ALG2	HP:0002515	Waddling gait	HP:0040283	ORPHA:353327
85365	ALG2	HP:0002515	Waddling gait	1/5	OMIM:616228
85365	ALG2	HP:0003803	Type 1 muscle fiber predominance	HP:0040283	ORPHA:353327
85365	ALG2	HP:0003803	Type 1 muscle fiber predominance	1/2	OMIM:616228
85365	ALG2	HP:0001371	Flexion contracture	HP:0040283	ORPHA:353327
85365	ALG2	HP:0001382	Joint hypermobility	2/3	OMIM:607906
85365	ALG2	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:353327
85365	ALG2	HP:0001347	Hyperreflexia	-	OMIM:607906
85365	ALG2	HP:0001332	Dystonia	1/3	OMIM:607906
85365	ALG2	HP:0033725	Thin corpus callosum	2/3	OMIM:607906
85365	ALG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616228
85365	ALG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:607906
85365	ALG2	HP:0002650	Scoliosis	HP:0040283	OMIM:616228
85365	ALG2	HP:0002650	Scoliosis	HP:0040283	ORPHA:353327
85365	ALG2	HP:0002020	Gastroesophageal reflux	1/3	OMIM:607906
85365	ALG2	HP:0003325	Limb-girdle muscle weakness	5/5	OMIM:616228
85365	ALG2	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:353327
85365	ALG2	HP:0002014	Diarrhea	1/3	OMIM:607906
85365	ALG2	HP:0003307	Hyperlordosis	1/5	OMIM:616228
85365	ALG2	HP:0003394	Muscle spasm	HP:0040283	ORPHA:353327
85365	ALG2	HP:0003391	Gowers sign	HP:0040283	ORPHA:353327
85365	ALG2	HP:0003391	Gowers sign	1/5	OMIM:616228
85365	ALG2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:79326
85365	ALG2	HP:0003388	Easy fatigability	HP:0040283	ORPHA:353327
85365	ALG2	HP:0008180	Mildly elevated creatine kinase	2/5	OMIM:616228
85365	ALG2	HP:0040288	Nasogastric tube feeding	1/3	OMIM:607906
85365	ALG2	HP:0003473	Fatigable weakness	5/5	OMIM:616228
85365	ALG2	HP:0003473	Fatigable weakness	HP:0040282	ORPHA:353327
85365	ALG2	HP:0002119	Ventriculomegaly	1/3	OMIM:607906
85365	ALG2	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	3/3	OMIM:616228
85365	ALG2	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040282	ORPHA:353327
85365	ALG2	HP:0002188	Delayed CNS myelination	1/1	OMIM:607906
85365	ALG2	HP:0003593	Infantile onset	2/5	OMIM:616228
85365	ALG2	HP:0003593	Infantile onset	3/4	OMIM:607906
85365	ALG2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:79326
85365	ALG2	HP:0002240	Hepatomegaly	1/1	OMIM:607906
85365	ALG2	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:353327
85365	ALG2	HP:0003557	Increased variability in muscle fiber diameter	2/2	OMIM:616228
85365	ALG2	HP:0010628	Facial palsy	HP:0040283	ORPHA:353327
85365	ALG2	HP:0020045	Esodeviation	1/3	OMIM:607906
85365	ALG2	HP:0003691	Scapular winging	HP:0040283	ORPHA:353327
85365	ALG2	HP:0003691	Scapular winging	1/5	OMIM:616228
85365	ALG2	HP:0002359	Frequent falls	HP:0040283	ORPHA:353327
85365	ALG2	HP:0003687	Centrally nucleated skeletal muscle fibers	1/2	OMIM:616228
85365	ALG2	HP:0003677	Slowly progressive	-	OMIM:616228
85365	ALG2	HP:0003645	Prolonged partial thromboplastin time	1/1	OMIM:607906
85365	ALG2	HP:0003642	Type I transferrin isoform profile	1/1	OMIM:607906
85365	ALG2	HP:0003642	Type I transferrin isoform profile	HP:0040281	ORPHA:79326
85365	ALG2	HP:0020152	Distal joint hypermobility	3/5	OMIM:616228
85365	ALG2	HP:0007183	Focal T2 hyperintense basal ganglia lesion	1/3	OMIM:607906
85365	ALG2	HP:0006808	Cerebral hypomyelination	HP:0040283	ORPHA:79326
85365	ALG2	HP:0000639	Nystagmus	1/1	OMIM:607906
85365	ALG2	HP:0000612	Iris coloboma	HP:0040282	ORPHA:79326
85365	ALG2	HP:0000612	Iris coloboma	1/1	OMIM:607906
85365	ALG2	HP:0001929	Reduced factor XI activity	1/1	OMIM:607906
85365	ALG2	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:79326
85365	ALG2	HP:0009046	Difficulty running	HP:0040283	ORPHA:353327
85365	ALG2	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:79326
85365	ALG2	HP:0011344	Severe global developmental delay	4/4	OMIM:607906
85365	ALG2	HP:0009028	Generalized weakness of limb muscles	HP:0040283	ORPHA:353327
85365	ALG2	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:79326
85365	ALG2	HP:0004325	Decreased body weight	2/3	OMIM:607906
85365	ALG2	HP:0004322	Short stature	1/3	OMIM:607906
85365	ALG2	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:79326
85365	ALG2	HP:0012751	Abnormal basal ganglia MRI signal intensity	HP:0040283	ORPHA:79326
85365	ALG2	HP:0000750	Delayed speech and language development	2/3	OMIM:607906
85365	ALG2	HP:0012704	Widened subarachnoid space	HP:0040283	ORPHA:79326
85365	ALG2	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:79326
85365	ALG2	HP:0011463	Childhood onset	3/5	OMIM:616228
85365	ALG2	HP:0011463	Childhood onset	1/3	OMIM:607906
85365	ALG2	HP:0003198	Myopathy	HP:0040282	ORPHA:353327
85365	ALG2	HP:0100301	Muscle fiber tubular inclusions	1/2	OMIM:616228
85365	ALG2	HP:0100301	Muscle fiber tubular inclusions	HP:0040282	ORPHA:353327
85365	ALG2	HP:0003186	Inverted nipples	1/3	OMIM:607906
85365	ALG2	HP:0000817	Reduced eye contact	1/3	OMIM:607906
85365	ALG2	HP:0000821	Hypothyroidism	1/3	OMIM:607906
85365	ALG2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:353327
85365	ALG2	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040283	ORPHA:79326
85365	ALG2	HP:0003200	Ragged-red muscle fibers	HP:0040283	ORPHA:353327
85365	ALG2	HP:0003200	Ragged-red muscle fibers	HP:0040283	OMIM:616228
85365	ALG2	HP:0000286	Epicanthus	HP:0040282	ORPHA:79326
85365	ALG2	HP:0000286	Epicanthus	1/3	OMIM:607906
85365	ALG2	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:353327
85365	ALG2	HP:0006380	Knee flexion contracture	3/5	OMIM:616228
85365	ALG2	HP:0000252	Microcephaly	2/3	OMIM:607906
85365	ALG2	HP:0000252	Microcephaly	HP:0040282	ORPHA:79326
85365	ALG2	HP:0000218	High palate	3/5	OMIM:616228
85365	ALG2	HP:0000218	High palate	1/3	OMIM:607906
85365	ALG2	HP:0000218	High palate	HP:0040282	ORPHA:353327
85365	ALG2	HP:0011097	Epileptic spasm	3/3	OMIM:607906
85365	ALG2	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:79326
85365	ALG2	HP:0012368	Flat face	1/3	OMIM:607906
85365	ALG2	HP:0030205	Increased jitter at single fiber EMG	HP:0040282	ORPHA:353327
85365	ALG2	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	HP:0040282	ORPHA:353327
85365	ALG2	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:353327
85365	ALG2	HP:0030191	Abnormal peripheral nervous system synaptic transmission	HP:0040282	ORPHA:353327
85365	ALG2	HP:0000369	Low-set ears	1/3	OMIM:607906
85365	ALG2	HP:0030319	Weakness of facial musculature	4/5	OMIM:616228
85365	ALG2	HP:0000407	Sensorineural hearing impairment	1/3	OMIM:607906
85365	ALG2	HP:0012469	Infantile spasms	HP:0040283	ORPHA:79326
85365	ALG2	HP:0012469	Infantile spasms	1/1	OMIM:607906
85365	ALG2	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:79326
85365	ALG2	HP:0001763	Pes planus	HP:0040282	ORPHA:353327
85365	ALG2	HP:0001763	Pes planus	3/5	OMIM:616228
85365	ALG2	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:79326
85365	ALG2	HP:0000431	Wide nasal bridge	2/3	OMIM:607906
85365	ALG2	HP:0000518	Cataract	HP:0040282	ORPHA:79326
85365	ALG2	HP:0000518	Cataract	-	OMIM:607906
85365	ALG2	HP:0000508	Ptosis	0/5	OMIM:616228
85365	ALG2	HP:0000508	Ptosis	HP:0040283	ORPHA:353327
85365	ALG2	HP:0000505	Visual impairment	1/1	OMIM:607906
85365	ALG2	HP:0000582	Upslanted palpebral fissure	1/3	OMIM:607906
85365	ALG2	HP:0001891	Iron deficiency anemia	1/3	OMIM:607906
85365	ALG2	HP:0000565	Esotropia	HP:0040282	ORPHA:79326
85365	ALG2	HP:0012520	Dilation of Virchow-Robin spaces	1/3	OMIM:607906
85366	MYLK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:192600
85366	MYLK2	HP:0011675	Arrhythmia	-	OMIM:192600
85366	MYLK2	HP:0001699	Sudden death	-	OMIM:192600
85366	MYLK2	HP:0001670	Asymmetric septal hypertrophy	-	OMIM:192600
85366	MYLK2	HP:0001682	Subvalvular aortic stenosis	-	OMIM:192600
85366	MYLK2	HP:0001635	Congestive heart failure	-	OMIM:192600
85378	TUBGCP6	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
85378	TUBGCP6	HP:0009879	Simplified gyral pattern	-	OMIM:251270
85378	TUBGCP6	HP:0001276	Hypertonia	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0001250	Seizure	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0001250	Seizure	HP:0040283	OMIM:251270
85378	TUBGCP6	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0001249	Intellectual disability	-	OMIM:251270
85378	TUBGCP6	HP:0001263	Global developmental delay	-	OMIM:251270
85378	TUBGCP6	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
85378	TUBGCP6	HP:0000007	Autosomal recessive inheritance	-	OMIM:251270
85378	TUBGCP6	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
85378	TUBGCP6	HP:0001302	Pachygyria	-	OMIM:251270
85378	TUBGCP6	HP:0002650	Scoliosis	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0001321	Cerebellar hypoplasia	-	OMIM:251270
85378	TUBGCP6	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
85378	TUBGCP6	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
85378	TUBGCP6	HP:0002059	Cerebral atrophy	-	OMIM:251270
85378	TUBGCP6	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0003577	Congenital onset	-	OMIM:251270
85378	TUBGCP6	HP:0001000	Abnormality of skin pigmentation	-	OMIM:251270
85378	TUBGCP6	HP:0003621	Juvenile onset	8/19	OMIM:180100
85378	TUBGCP6	HP:0000639	Nystagmus	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0000639	Nystagmus	HP:0040283	OMIM:251270
85378	TUBGCP6	HP:0000648	Optic atrophy	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0000662	Nyctalopia	26/28	OMIM:180100
85378	TUBGCP6	HP:0004322	Short stature	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0004322	Short stature	-	OMIM:251270
85378	TUBGCP6	HP:0011463	Childhood onset	3/19	OMIM:180100
85378	TUBGCP6	HP:0011462	Young adult onset	8/19	OMIM:180100
85378	TUBGCP6	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0008052	Retinal fold	-	OMIM:251270
85378	TUBGCP6	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:2518
85378	TUBGCP6	HP:0007703	Abnormality of retinal pigmentation	-	OMIM:251270
85378	TUBGCP6	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
85378	TUBGCP6	HP:0007731	Chorioretinal dysplasia	-	OMIM:251270
85378	TUBGCP6	HP:0000252	Microcephaly	HP:0040281	ORPHA:2518
85378	TUBGCP6	HP:0000252	Microcephaly	-	OMIM:251270
85378	TUBGCP6	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
85378	TUBGCP6	HP:0000340	Sloping forehead	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0000340	Sloping forehead	-	OMIM:251270
85378	TUBGCP6	HP:0000307	Pointed chin	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0000499	Abnormal eyelash morphology	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0000486	Strabismus	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0000411	Protruding ear	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0000518	Cataract	-	OMIM:251270
85378	TUBGCP6	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
85378	TUBGCP6	HP:0000505	Visual impairment	HP:0040282	ORPHA:2518
85378	TUBGCP6	HP:0000505	Visual impairment	-	OMIM:251270
85378	TUBGCP6	HP:0000575	Scotoma	5/18	OMIM:180100
85378	TUBGCP6	HP:0000556	Retinal dystrophy	-	OMIM:251270
85378	TUBGCP6	HP:0000568	Microphthalmia	-	OMIM:251270
85378	TUBGCP6	HP:0000541	Retinal detachment	-	OMIM:251270
85378	TUBGCP6	HP:0000543	Optic disc pallor	1/1	OMIM:180100
85378	TUBGCP6	HP:0000543	Optic disc pallor	-	OMIM:251270
85378	TUBGCP6	HP:0000545	Myopia	-	OMIM:180100
85440	DOCK7	HP:0002465	Poor speech	HP:0040282	ORPHA:411986
85440	DOCK7	HP:0009904	Prominent ear helix	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0001252	Hypotonia	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0001252	Hypotonia	1/3	OMIM:615859
85440	DOCK7	HP:0001249	Intellectual disability	HP:0040282	ORPHA:411986
85440	DOCK7	HP:0001263	Global developmental delay	3/3	OMIM:615859
85440	DOCK7	HP:0002540	Inability to walk	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0002521	Hypsarrhythmia	1/3	OMIM:615859
85440	DOCK7	HP:0001344	Absent speech	1/3	OMIM:615859
85440	DOCK7	HP:0000007	Autosomal recessive inheritance	-	OMIM:615859
85440	DOCK7	HP:0001336	Myoclonus	1/3	OMIM:615859
85440	DOCK7	HP:0001336	Myoclonus	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0012105	Occipital cortical atrophy	HP:0040282	ORPHA:411986
85440	DOCK7	HP:0012110	Hypoplasia of the pons	HP:0040282	ORPHA:411986
85440	DOCK7	HP:0012110	Hypoplasia of the pons	2/3	OMIM:615859
85440	DOCK7	HP:0002069	Bilateral tonic-clonic seizure	1/3	OMIM:615859
85440	DOCK7	HP:0002079	Hypoplasia of the corpus callosum	2/3	OMIM:615859
85440	DOCK7	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:411986
85440	DOCK7	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0003593	Infantile onset	3/3	OMIM:615859
85440	DOCK7	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:411986
85440	DOCK7	HP:0100704	Cerebral visual impairment	3/3	OMIM:615859
85440	DOCK7	HP:0009748	Large earlobe	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0200134	Epileptic encephalopathy	3/3	OMIM:615859
85440	DOCK7	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0002384	Focal impaired awareness seizure	1/3	OMIM:615859
85440	DOCK7	HP:0010841	Multifocal epileptiform discharges	HP:0040282	ORPHA:411986
85440	DOCK7	HP:0010819	Atonic seizure	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0010819	Atonic seizure	1/3	OMIM:615859
85440	DOCK7	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:411986
85440	DOCK7	HP:0010730	Double eyebrow	1/3	OMIM:615859
85440	DOCK7	HP:0000629	Periorbital fullness	HP:0040282	ORPHA:411986
85440	DOCK7	HP:0000629	Periorbital fullness	2/3	OMIM:615859
85440	DOCK7	HP:0000664	Synophrys	1/3	OMIM:615859
85440	DOCK7	HP:0000664	Synophrys	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0004381	Supravalvular aortic stenosis	1/3	OMIM:615859
85440	DOCK7	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0000717	Autism	1/3	OMIM:615859
85440	DOCK7	HP:0000817	Reduced eye contact	HP:0040282	ORPHA:411986
85440	DOCK7	HP:0040159	Abnormal spaced incisors	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:411986
85440	DOCK7	HP:0000294	Low anterior hairline	3/3	OMIM:615859
85440	DOCK7	HP:0000232	Everted lower lip vermilion	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0000232	Everted lower lip vermilion	1/3	OMIM:615859
85440	DOCK7	HP:0000377	Abnormal pinna morphology	3/3	OMIM:615859
85440	DOCK7	HP:0000341	Narrow forehead	1/3	OMIM:615859
85440	DOCK7	HP:0000341	Narrow forehead	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0032792	Tonic seizure	2/3	OMIM:615859
85440	DOCK7	HP:0000322	Short philtrum	1/3	OMIM:615859
85440	DOCK7	HP:0000322	Short philtrum	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0012469	Infantile spasms	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0012469	Infantile spasms	1/3	OMIM:615859
85440	DOCK7	HP:0012471	Thick vermilion border	1/3	OMIM:615859
85440	DOCK7	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0000463	Anteverted nares	2/3	OMIM:615859
85440	DOCK7	HP:0000463	Anteverted nares	HP:0040282	ORPHA:411986
85440	DOCK7	HP:0000455	Broad nasal tip	2/3	OMIM:615859
85440	DOCK7	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:411986
85440	DOCK7	HP:0000414	Bulbous nose	1/3	OMIM:615859
85440	DOCK7	HP:0000414	Bulbous nose	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0000426	Prominent nasal bridge	1/3	OMIM:615859
85440	DOCK7	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0000528	Anophthalmia	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0000527	Long eyelashes	HP:0040283	ORPHA:411986
85440	DOCK7	HP:0000527	Long eyelashes	1/3	OMIM:615859
85440	DOCK7	HP:0000506	Telecanthus	2/3	OMIM:615859
85440	DOCK7	HP:0000506	Telecanthus	HP:0040282	ORPHA:411986
85440	DOCK7	HP:0000574	Thick eyebrow	1/3	OMIM:615859
85440	DOCK7	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:411986
85446	ZFHX2	HP:0002661	Painless fractures due to injury	-	OMIM:147430
85446	ZFHX2	HP:0000006	Autosomal dominant inheritance	-	OMIM:147430
85446	ZFHX2	HP:0007021	Pain insensitivity	6/6	OMIM:147430
85446	ZFHX2	HP:0002315	Headache	-	OMIM:147430
85446	ZFHX2	HP:0010829	Impaired temperature sensation	6/6	OMIM:147430
85446	ZFHX2	HP:0000632	Lacrimation abnormality	0/6	OMIM:147430
85446	ZFHX2	HP:0001954	Recurrent fever	15/16	OMIM:147430
85446	ZFHX2	HP:0008000	Decreased corneal reflex	6/6	OMIM:147430
85446	ZFHX2	HP:0000966	Hypohidrosis	-	OMIM:147430
85446	ZFHX2	HP:0000559	Corneal scarring	0/6	OMIM:147430
85452	CFAP74	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
85452	CFAP74	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
85452	CFAP74	HP:0001217	Clubbing	HP:0040283	ORPHA:244
85452	CFAP74	HP:0000007	Autosomal recessive inheritance	-	OMIM:620197
85452	CFAP74	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
85452	CFAP74	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
85452	CFAP74	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
85452	CFAP74	HP:0032559	Short sperm flagella	2/2	OMIM:620197
85452	CFAP74	HP:0032560	Coiled sperm flagella	2/2	OMIM:620197
85452	CFAP74	HP:0031245	Productive cough	HP:0040282	ORPHA:244
85452	CFAP74	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
85452	CFAP74	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
85452	CFAP74	HP:0100582	Nasal polyposis	-	OMIM:620197
85452	CFAP74	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
85452	CFAP74	HP:0002110	Bronchiectasis	12/12	OMIM:620197
85452	CFAP74	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
85452	CFAP74	HP:0008222	Female infertility	HP:0040283	ORPHA:244
85452	CFAP74	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
85452	CFAP74	HP:0002205	Recurrent respiratory infections	3/3	OMIM:620197
85452	CFAP74	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
85452	CFAP74	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
85452	CFAP74	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
85452	CFAP74	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
85452	CFAP74	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
85452	CFAP74	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
85452	CFAP74	HP:0011463	Childhood onset	3/3	OMIM:620197
85452	CFAP74	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
85452	CFAP74	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
85452	CFAP74	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
85452	CFAP74	HP:0030828	Wheezing	HP:0040283	ORPHA:244
85452	CFAP74	HP:0003251	Male infertility	2/2	OMIM:620197
85452	CFAP74	HP:0003251	Male infertility	HP:0040282	ORPHA:244
85452	CFAP74	HP:0034315	Chronic cough	2/2	OMIM:620197
85452	CFAP74	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
85452	CFAP74	HP:0033036	Decreased nasal nitric oxide	0/3	OMIM:620197
85452	CFAP74	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
85452	CFAP74	HP:0012265	Ciliary dyskinesia	2/2	OMIM:620197
85452	CFAP74	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
85452	CFAP74	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
85452	CFAP74	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
85452	CFAP74	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
85452	CFAP74	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
85452	CFAP74	HP:0001696	Situs inversus totalis	0/3	OMIM:620197
85452	CFAP74	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
85452	CFAP74	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
85452	CFAP74	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
85452	CFAP74	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
85452	CFAP74	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
85452	CFAP74	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
85452	CFAP74	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
85452	CFAP74	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
85452	CFAP74	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
85452	CFAP74	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
85452	CFAP74	HP:0011108	Recurrent sinusitis	2/2	OMIM:620197
85452	CFAP74	HP:0001746	Asplenia	HP:0040284	ORPHA:244
85452	CFAP74	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
85452	CFAP74	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
85452	CFAP74	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
85452	CFAP74	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
85452	CFAP74	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
85459	CEP295	HP:0001159	Syndactyly	1/4	OMIM:620767
85459	CEP295	HP:0009879	Simplified gyral pattern	3/3	OMIM:620767
85459	CEP295	HP:0001270	Motor delay	2/2	OMIM:620767
85459	CEP295	HP:0001249	Intellectual disability	2/2	OMIM:620767
85459	CEP295	HP:0001263	Global developmental delay	2/2	OMIM:620767
85459	CEP295	HP:0002575	Tracheoesophageal fistula	1/4	OMIM:620767
85459	CEP295	HP:0002553	Highly arched eyebrow	4/4	OMIM:620767
85459	CEP295	HP:0008897	Postnatal growth retardation	3/4	OMIM:620767
85459	CEP295	HP:0000007	Autosomal recessive inheritance	-	OMIM:620767
85459	CEP295	HP:0001302	Pachygyria	2/3	OMIM:620767
85459	CEP295	HP:0003577	Congenital onset	4/4	OMIM:620767
85459	CEP295	HP:0011968	Feeding difficulties	3/4	OMIM:620767
85459	CEP295	HP:0010800	Absent cupid's bow	1/4	OMIM:620767
85459	CEP295	HP:0009765	Low hanging columella	2/4	OMIM:620767
85459	CEP295	HP:0000678	Dental crowding	1/4	OMIM:620767
85459	CEP295	HP:0000687	Widely spaced teeth	1/4	OMIM:620767
85459	CEP295	HP:0004322	Short stature	3/4	OMIM:620767
85459	CEP295	HP:0000750	Delayed speech and language development	2/2	OMIM:620767
85459	CEP295	HP:0100040	Broad 2nd toe	3/4	OMIM:620767
85459	CEP295	HP:0011451	Primary microcephaly	4/4	OMIM:620767
85459	CEP295	HP:0004415	Pulmonary artery stenosis	1/4	OMIM:620767
85459	CEP295	HP:0000278	Retrognathia	2/4	OMIM:620767
85459	CEP295	HP:0030084	Clinodactyly	4/4	OMIM:620767
85459	CEP295	HP:0000219	Thin upper lip vermilion	4/4	OMIM:620767
85459	CEP295	HP:0000218	High palate	1/4	OMIM:620767
85459	CEP295	HP:0001511	Intrauterine growth retardation	2/4	OMIM:620767
85459	CEP295	HP:0000340	Sloping forehead	2/4	OMIM:620767
85459	CEP295	HP:0000343	Long philtrum	4/4	OMIM:620767
85459	CEP295	HP:0001684	Secundum atrial septal defect	1/4	OMIM:620767
85459	CEP295	HP:0000347	Micrognathia	2/4	OMIM:620767
85459	CEP295	HP:0000319	Smooth philtrum	4/4	OMIM:620767
85459	CEP295	HP:0001643	Patent ductus arteriosus	2/4	OMIM:620767
85459	CEP295	HP:0001655	Patent foramen ovale	1/4	OMIM:620767
85459	CEP295	HP:0000494	Downslanted palpebral fissures	1/4	OMIM:620767
85459	CEP295	HP:0000411	Protruding ear	4/4	OMIM:620767
85459	CEP295	HP:0000426	Prominent nasal bridge	4/4	OMIM:620767
85459	CEP295	HP:0000582	Upslanted palpebral fissure	1/4	OMIM:620767
85465	SELENOI	HP:0002493	Upper motor neuron dysfunction	HP:0040283	ORPHA:506353
85465	SELENOI	HP:0007220	Demyelinating motor neuropathy	HP:0040282	ORPHA:506353
85465	SELENOI	HP:0001270	Motor delay	4/4	OMIM:618768
85465	SELENOI	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:506353
85465	SELENOI	HP:0001256	Intellectual disability, mild	3/3	OMIM:618768
85465	SELENOI	HP:0001250	Seizure	HP:0040282	ORPHA:506353
85465	SELENOI	HP:0001260	Dysarthria	2/4	OMIM:618768
85465	SELENOI	HP:0002540	Inability to walk	-	OMIM:618768
85465	SELENOI	HP:0001347	Hyperreflexia	4/4	OMIM:618768
85465	SELENOI	HP:0008848	Moderately short stature	HP:0040280	ORPHA:506353
85465	SELENOI	HP:0000007	Autosomal recessive inheritance	-	OMIM:618768
85465	SELENOI	HP:0000193	Bifid uvula	HP:0040282	ORPHA:506353
85465	SELENOI	HP:0000193	Bifid uvula	2/4	OMIM:618768
85465	SELENOI	HP:0000175	Cleft palate	HP:0040282	ORPHA:506353
85465	SELENOI	HP:0000175	Cleft palate	1/4	OMIM:618768
85465	SELENOI	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:506353
85465	SELENOI	HP:0007663	Reduced visual acuity	2/4	OMIM:618768
85465	SELENOI	HP:0002061	Lower limb spasticity	4/4	OMIM:618768
85465	SELENOI	HP:0003487	Babinski sign	HP:0040282	ORPHA:506353
85465	SELENOI	HP:0003487	Babinski sign	4/4	OMIM:618768
85465	SELENOI	HP:0002194	Delayed gross motor development	HP:0040280	ORPHA:506353
85465	SELENOI	HP:0002191	Progressive spasticity	HP:0040280	ORPHA:506353
85465	SELENOI	HP:0100704	Cerebral visual impairment	1/4	OMIM:618768
85465	SELENOI	HP:0008376	Nasal dysarthria	HP:0040280	ORPHA:506353
85465	SELENOI	HP:0007020	Progressive spastic paraplegia	HP:0040280	ORPHA:506353
85465	SELENOI	HP:0002395	Lower limb hyperreflexia	HP:0040280	ORPHA:506353
85465	SELENOI	HP:0003623	Neonatal onset	-	OMIM:618768
85465	SELENOI	HP:0007199	Progressive spastic paraparesis	HP:0040280	ORPHA:506353
85465	SELENOI	HP:0000648	Optic atrophy	1/4	OMIM:618768
85465	SELENOI	HP:0030625	Hyporeflective spaces on macular OCT	HP:0040282	ORPHA:506353
85465	SELENOI	HP:0006986	Upper limb spasticity	1/4	OMIM:618768
85465	SELENOI	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:506353
85465	SELENOI	HP:0000750	Delayed speech and language development	4/4	OMIM:618768
85465	SELENOI	HP:0011448	Ankle clonus	HP:0040280	ORPHA:506353
85465	SELENOI	HP:0011448	Ankle clonus	3/4	OMIM:618768
85465	SELENOI	HP:0012841	Retinal vascular tortuosity	2/4	OMIM:618768
85465	SELENOI	HP:0030891	Periventricular white matter hyperintensities	4/4	OMIM:618768
85465	SELENOI	HP:0033044	Motor regression	2/4	OMIM:618768
85465	SELENOI	HP:0007768	Central retinal vessel vascular tortuosity	HP:0040282	ORPHA:506353
85465	SELENOI	HP:0000252	Microcephaly	2/4	OMIM:618768
85465	SELENOI	HP:0000252	Microcephaly	HP:0040280	ORPHA:506353
85465	SELENOI	HP:0007814	Retinal pigment epithelial mottling	HP:0040280	ORPHA:506353
85465	SELENOI	HP:0030182	Tetraplegia/tetraparesis	HP:0040283	ORPHA:506353
85465	SELENOI	HP:0000407	Sensorineural hearing impairment	1/4	OMIM:618768
85476	GFM1	HP:0002490	Increased CSF lactate	-	OMIM:609060
85476	GFM1	HP:0001276	Hypertonia	2/2	OMIM:609060
85476	GFM1	HP:0001270	Motor delay	-	OMIM:609060
85476	GFM1	HP:0001250	Seizure	-	OMIM:609060
85476	GFM1	HP:0001257	Spasticity	-	OMIM:609060
85476	GFM1	HP:0001396	Cholestasis	2/2	OMIM:609060
85476	GFM1	HP:0001347	Hyperreflexia	-	OMIM:609060
85476	GFM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:609060
85476	GFM1	HP:0008936	Axial hypotonia	-	OMIM:609060
85476	GFM1	HP:0002079	Hypoplasia of the corpus callosum	2/2	OMIM:609060
85476	GFM1	HP:0002151	Increased circulating lactate concentration	-	OMIM:609060
85476	GFM1	HP:0011924	Decreased activity of mitochondrial complex III	1/1	OMIM:609060
85476	GFM1	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	1/1	OMIM:609060
85476	GFM1	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:609060
85476	GFM1	HP:0003577	Congenital onset	-	OMIM:609060
85476	GFM1	HP:0002240	Hepatomegaly	-	OMIM:609060
85476	GFM1	HP:0002283	Global brain atrophy	1/2	OMIM:609060
85476	GFM1	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:609060
85476	GFM1	HP:0011968	Feeding difficulties	-	OMIM:609060
85476	GFM1	HP:0002375	Hypokinesia	1/2	OMIM:609060
85476	GFM1	HP:0000639	Nystagmus	-	OMIM:609060
85476	GFM1	HP:0001942	Metabolic acidosis	2/2	OMIM:609060
85476	GFM1	HP:0004448	Fulminant hepatic failure	2/2	OMIM:609060
85476	GFM1	HP:0000817	Reduced eye contact	-	OMIM:609060
85476	GFM1	HP:0000252	Microcephaly	1/2	OMIM:609060
85476	GFM1	HP:0032653	Elevated lactate:pyruvate ratio	2/2	OMIM:609060
85476	GFM1	HP:0001511	Intrauterine growth retardation	1/2	OMIM:609060
85476	GFM1	HP:0012448	Delayed myelination	-	OMIM:609060
85476	GFM1	HP:0006799	Basal ganglia cysts	1/2	OMIM:609060
85478	DRC2	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
85478	DRC2	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
85478	DRC2	HP:0001217	Clubbing	HP:0040283	ORPHA:244
85478	DRC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615504
85478	DRC2	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
85478	DRC2	HP:0002643	Neonatal respiratory distress	1/3	OMIM:615504
85478	DRC2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
85478	DRC2	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
85478	DRC2	HP:0031245	Productive cough	HP:0040282	ORPHA:244
85478	DRC2	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
85478	DRC2	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
85478	DRC2	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
85478	DRC2	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
85478	DRC2	HP:0002110	Bronchiectasis	4/4	OMIM:615504
85478	DRC2	HP:0008222	Female infertility	HP:0040283	ORPHA:244
85478	DRC2	HP:0003593	Infantile onset	1/1	OMIM:615504
85478	DRC2	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
85478	DRC2	HP:0002205	Recurrent respiratory infections	1/1	OMIM:615504
85478	DRC2	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
85478	DRC2	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
85478	DRC2	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
85478	DRC2	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	-	OMIM:615504
85478	DRC2	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
85478	DRC2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
85478	DRC2	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
85478	DRC2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
85478	DRC2	HP:0004469	Chronic bronchitis	-	OMIM:615504
85478	DRC2	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
85478	DRC2	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
85478	DRC2	HP:0030828	Wheezing	HP:0040283	ORPHA:244
85478	DRC2	HP:0003251	Male infertility	HP:0040282	ORPHA:244
85478	DRC2	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
85478	DRC2	HP:0033036	Decreased nasal nitric oxide	3/3	OMIM:615504
85478	DRC2	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
85478	DRC2	HP:0012265	Ciliary dyskinesia	-	OMIM:615504
85478	DRC2	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
85478	DRC2	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
85478	DRC2	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
85478	DRC2	HP:0012384	Rhinitis	-	OMIM:615504
85478	DRC2	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
85478	DRC2	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
85478	DRC2	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
85478	DRC2	HP:0001696	Situs inversus totalis	0/3	OMIM:615504
85478	DRC2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
85478	DRC2	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
85478	DRC2	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
85478	DRC2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
85478	DRC2	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
85478	DRC2	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
85478	DRC2	HP:0000403	Recurrent otitis media	3/3	OMIM:615504
85478	DRC2	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
85478	DRC2	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
85478	DRC2	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
85478	DRC2	HP:0011109	Chronic sinusitis	2/3	OMIM:615504
85478	DRC2	HP:0011108	Recurrent sinusitis	-	OMIM:615504
85478	DRC2	HP:0001746	Asplenia	HP:0040284	ORPHA:244
85478	DRC2	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
85478	DRC2	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
85478	DRC2	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
85478	DRC2	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
85478	DRC2	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
86614	HSFY1	HP:0000027	Azoospermia	-	OMIM:415000
86614	HSFY1	HP:0001450	Y-linked inheritance	-	OMIM:415000
86614	HSFY1	HP:0011462	Young adult onset	-	OMIM:415000
86614	HSFY1	HP:0003251	Male infertility	-	OMIM:415000
87178	PNPT1	HP:0002490	Increased CSF lactate	HP:0040282	ORPHA:319514
87178	PNPT1	HP:0002490	Increased CSF lactate	2/2	OMIM:614932
87178	PNPT1	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0002451	Limb dystonia	HP:0040282	ORPHA:319514
87178	PNPT1	HP:0007328	Impaired pain sensation	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0007328	Impaired pain sensation	-	OMIM:608703
87178	PNPT1	HP:0002421	Poor head control	HP:0040282	ORPHA:319514
87178	PNPT1	HP:0002421	Poor head control	2/2	OMIM:614932
87178	PNPT1	HP:0002415	Leukodystrophy	-	OMIM:614932
87178	PNPT1	HP:0001298	Encephalopathy	2/2	OMIM:614932
87178	PNPT1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:319514
87178	PNPT1	HP:0001272	Cerebellar atrophy	9/10	OMIM:608703
87178	PNPT1	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0001251	Ataxia	11/11	OMIM:608703
87178	PNPT1	HP:0001265	Hyporeflexia	1/1	OMIM:614932
87178	PNPT1	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:319514
87178	PNPT1	HP:0001266	Choreoathetosis	2/2	OMIM:614932
87178	PNPT1	HP:0001260	Dysarthria	-	OMIM:608703
87178	PNPT1	HP:0002574	Episodic abdominal pain	HP:0040283	ORPHA:101111
87178	PNPT1	HP:0010994	Abnormal corpus striatum morphology	HP:0040282	ORPHA:319514
87178	PNPT1	HP:0002522	Areflexia of lower limbs	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0002522	Areflexia of lower limbs	7/10	OMIM:608703
87178	PNPT1	HP:0002500	Abnormal cerebral white matter morphology	2/10	OMIM:608703
87178	PNPT1	HP:0003803	Type 1 muscle fiber predominance	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0008872	Feeding difficulties in infancy	1/2	OMIM:614932
87178	PNPT1	HP:0001332	Dystonia	2/2	OMIM:614932
87178	PNPT1	HP:0001324	Muscle weakness	HP:0040282	ORPHA:319514
87178	PNPT1	HP:0001344	Absent speech	-	OMIM:614932
87178	PNPT1	HP:0001344	Absent speech	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0000012	Urinary urgency	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0000012	Urinary urgency	0/3	OMIM:608703
87178	PNPT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614932
87178	PNPT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614934
87178	PNPT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:608703
87178	PNPT1	HP:0002650	Scoliosis	5/11	OMIM:608703
87178	PNPT1	HP:0002650	Scoliosis	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0007663	Reduced visual acuity	-	OMIM:608703
87178	PNPT1	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:319514
87178	PNPT1	HP:0008936	Axial hypotonia	2/2	OMIM:614932
87178	PNPT1	HP:0002013	Vomiting	HP:0040283	ORPHA:101111
87178	PNPT1	HP:0002013	Vomiting	1/11	OMIM:608703
87178	PNPT1	HP:0100543	Cognitive impairment	0/3	OMIM:614934
87178	PNPT1	HP:0002066	Gait ataxia	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:101111
87178	PNPT1	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0003380	Decreased number of peripheral myelinated nerve fibers	1/1	OMIM:608703
87178	PNPT1	HP:0003487	Babinski sign	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0003487	Babinski sign	3/10	OMIM:608703
87178	PNPT1	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:319514
87178	PNPT1	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:614932
87178	PNPT1	HP:0002134	Abnormal basal ganglia morphology	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0003445	EMG: neuropathic changes	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0003593	Infantile onset	2/2	OMIM:614932
87178	PNPT1	HP:0003554	Type 2 muscle fiber atrophy	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0200125	Mitochondrial respiratory chain defects	HP:0040281	ORPHA:319514
87178	PNPT1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0007069	Profound static encephalopathy	HP:0040282	ORPHA:319514
87178	PNPT1	HP:0100660	Dyskinesia	1/2	OMIM:614932
87178	PNPT1	HP:0002310	Orofacial dyskinesia	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0006829	Severe muscular hypotonia	2/2	OMIM:614932
87178	PNPT1	HP:0006895	Lower limb hypertonia	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0000639	Nystagmus	HP:0040282	ORPHA:319514
87178	PNPT1	HP:0000639	Nystagmus	7/11	OMIM:608703
87178	PNPT1	HP:0000639	Nystagmus	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0000639	Nystagmus	-	OMIM:614932
87178	PNPT1	HP:0000657	Oculomotor apraxia	1/11	OMIM:608703
87178	PNPT1	HP:0006944	Abolished vibration sense	4/5	OMIM:608703
87178	PNPT1	HP:0006937	Impaired distal tactile sensation	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0000763	Sensory neuropathy	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0000763	Sensory neuropathy	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0000763	Sensory neuropathy	-	OMIM:608703
87178	PNPT1	HP:0000762	Decreased nerve conduction velocity	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0000762	Decreased nerve conduction velocity	1/1	OMIM:614932
87178	PNPT1	HP:0011468	Facial tics	1/11	OMIM:608703
87178	PNPT1	HP:0011468	Facial tics	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0011463	Childhood onset	3/3	OMIM:614934
87178	PNPT1	HP:0040204	Elevated CSF neopterin level	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0003202	Skeletal muscle atrophy	1/2	OMIM:614932
87178	PNPT1	HP:0003273	Hip contracture	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0100275	Diffuse cerebellar atrophy	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0006466	Ankle flexion contracture	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0001508	Failure to thrive	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0001510	Growth delay	-	OMIM:614932
87178	PNPT1	HP:0006558	Decreased mitochondrial complex III activity in liver tissue	1/2	OMIM:614932
87178	PNPT1	HP:0002936	Distal sensory impairment	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0000365	Hearing impairment	3/4	OMIM:608703
87178	PNPT1	HP:0000365	Hearing impairment	3/3	OMIM:614934
87178	PNPT1	HP:0031422	Abnormal cerebellar cortex morphology	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0000317	Facial myokymia	-	OMIM:608703
87178	PNPT1	HP:0000317	Facial myokymia	HP:0040283	ORPHA:101111
87178	PNPT1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:319514
87178	PNPT1	HP:0000407	Sensorineural hearing impairment	-	OMIM:614932
87178	PNPT1	HP:0000486	Strabismus	-	OMIM:608703
87178	PNPT1	HP:0000486	Strabismus	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0000496	Abnormality of eye movement	-	OMIM:614932
87178	PNPT1	HP:0012448	Delayed myelination	HP:0040282	ORPHA:319514
87178	PNPT1	HP:0001751	Abnormal vestibular function	0/3	OMIM:614934
87178	PNPT1	HP:0001761	Pes cavus	HP:0040282	ORPHA:101111
87178	PNPT1	HP:0001761	Pes cavus	2/11	OMIM:608703
87178	PNPT1	HP:0000518	Cataract	-	OMIM:614932
87178	PNPT1	HP:0000519	Developmental cataract	HP:0040283	ORPHA:319514
87178	PNPT1	HP:0000505	Visual impairment	-	OMIM:608703
89765	RSPH1	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
89765	RSPH1	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
89765	RSPH1	HP:0001217	Clubbing	HP:0040283	ORPHA:244
89765	RSPH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615481
89765	RSPH1	HP:0002643	Neonatal respiratory distress	4/12	OMIM:615481
89765	RSPH1	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
89765	RSPH1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
89765	RSPH1	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
89765	RSPH1	HP:0031245	Productive cough	HP:0040282	ORPHA:244
89765	RSPH1	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
89765	RSPH1	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
89765	RSPH1	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
89765	RSPH1	HP:0002110	Bronchiectasis	9/12	OMIM:615481
89765	RSPH1	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
89765	RSPH1	HP:0008222	Female infertility	HP:0040283	ORPHA:244
89765	RSPH1	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
89765	RSPH1	HP:0002257	Chronic rhinitis	10/12	OMIM:615481
89765	RSPH1	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
89765	RSPH1	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
89765	RSPH1	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
89765	RSPH1	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
89765	RSPH1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
89765	RSPH1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
89765	RSPH1	HP:0000789	Infertility	4/4	OMIM:615481
89765	RSPH1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
89765	RSPH1	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
89765	RSPH1	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
89765	RSPH1	HP:0030828	Wheezing	HP:0040283	ORPHA:244
89765	RSPH1	HP:0003251	Male infertility	HP:0040282	ORPHA:244
89765	RSPH1	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
89765	RSPH1	HP:0033036	Decreased nasal nitric oxide	4/5	OMIM:615481
89765	RSPH1	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
89765	RSPH1	HP:0012265	Ciliary dyskinesia	-	OMIM:615481
89765	RSPH1	HP:0012263	Immotile cilia	1/12	OMIM:615481
89765	RSPH1	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
89765	RSPH1	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
89765	RSPH1	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
89765	RSPH1	HP:0006510	Chronic pulmonary obstruction	3/12	OMIM:615481
89765	RSPH1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
89765	RSPH1	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
89765	RSPH1	HP:0001696	Situs inversus totalis	0/12	OMIM:615481
89765	RSPH1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
89765	RSPH1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
89765	RSPH1	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
89765	RSPH1	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
89765	RSPH1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
89765	RSPH1	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
89765	RSPH1	HP:0000403	Recurrent otitis media	8/12	OMIM:615481
89765	RSPH1	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
89765	RSPH1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
89765	RSPH1	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
89765	RSPH1	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
89765	RSPH1	HP:0011108	Recurrent sinusitis	10/12	OMIM:615481
89765	RSPH1	HP:0001746	Asplenia	HP:0040284	ORPHA:244
89765	RSPH1	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
89765	RSPH1	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
89765	RSPH1	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
89765	RSPH1	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
89765	RSPH1	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
89780	WNT3A	HP:0001288	Gait disturbance	HP:0040282	ORPHA:85193
89780	WNT3A	HP:0002653	Bone pain	HP:0040281	ORPHA:85193
89780	WNT3A	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:85193
89780	WNT3A	HP:0000939	Osteoporosis	HP:0040281	ORPHA:85193
89780	WNT3A	HP:0002808	Kyphosis	HP:0040283	ORPHA:85193
89780	WNT3A	HP:0002953	Vertebral compression fracture	HP:0040282	ORPHA:85193
89781	HPS4	HP:0001107	Ocular albinism	-	OMIM:614073
89781	HPS4	HP:0000007	Autosomal recessive inheritance	-	OMIM:614073
89781	HPS4	HP:0007663	Reduced visual acuity	7/7	OMIM:614073
89781	HPS4	HP:0000132	Menorrhagia	3/3	OMIM:614073
89781	HPS4	HP:0002091	Restrictive ventilatory defect	3/7	OMIM:614073
89781	HPS4	HP:0033263	Absent platelet dense granules	7/7	OMIM:614073
89781	HPS4	HP:0002206	Pulmonary fibrosis	1/7	OMIM:614073
89781	HPS4	HP:0001022	Albinism	7/7	OMIM:614073
89781	HPS4	HP:0000666	Horizontal nystagmus	-	OMIM:614073
89781	HPS4	HP:0000978	Bruising susceptibility	7/7	OMIM:614073
89781	HPS4	HP:0007750	Hypoplasia of the fovea	-	OMIM:614073
89781	HPS4	HP:0000421	Epistaxis	5/7	OMIM:614073
89781	HPS4	HP:0001892	Abnormal bleeding	7/7	OMIM:614073
89866	SEC16B	HP:0001256	Intellectual disability, mild	-	OMIM:259770
89866	SEC16B	HP:0001252	Hypotonia	-	OMIM:259770
89866	SEC16B	HP:0001263	Global developmental delay	1/1	OMIM:612394
89866	SEC16B	HP:0001382	Joint hypermobility	-	OMIM:259770
89866	SEC16B	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
89866	SEC16B	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
89866	SEC16B	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
89866	SEC16B	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
89866	SEC16B	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
89866	SEC16B	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
89866	SEC16B	HP:0002650	Scoliosis	1/5	OMIM:259770
89866	SEC16B	HP:0002650	Scoliosis	1/1	OMIM:612394
89866	SEC16B	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
89866	SEC16B	HP:0002757	Recurrent fractures	4/5	OMIM:259770
89866	SEC16B	HP:0002756	Pathologic fracture	-	OMIM:259770
89866	SEC16B	HP:0002756	Pathologic fracture	1/1	OMIM:612394
89866	SEC16B	HP:0002751	Kyphoscoliosis	-	OMIM:259770
89866	SEC16B	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
89866	SEC16B	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
89866	SEC16B	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
89866	SEC16B	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
89866	SEC16B	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
89866	SEC16B	HP:0002164	Nail dysplasia	1/1	OMIM:612394
89866	SEC16B	HP:0010557	Overlapping fingers	1/2	OMIM:612394
89866	SEC16B	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
89866	SEC16B	HP:0003593	Infantile onset	1/5	OMIM:259770
89866	SEC16B	HP:0003577	Congenital onset	4/5	OMIM:259770
89866	SEC16B	HP:0002208	Coarse hair	1/1	OMIM:612394
89866	SEC16B	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
89866	SEC16B	HP:0025019	Arterial rupture	1/1	OMIM:612394
89866	SEC16B	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
89866	SEC16B	HP:0001089	Iris atrophy	-	OMIM:259770
89866	SEC16B	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
89866	SEC16B	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
89866	SEC16B	HP:0000618	Blindness	5/5	OMIM:259770
89866	SEC16B	HP:0000667	Phthisis bulbi	-	OMIM:259770
89866	SEC16B	HP:0004322	Short stature	-	OMIM:259770
89866	SEC16B	HP:0003016	Metaphyseal widening	-	OMIM:259770
89866	SEC16B	HP:0011461	Fetal onset	2/2	OMIM:612394
89866	SEC16B	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
89866	SEC16B	HP:0003196	Short nose	1/1	OMIM:612394
89866	SEC16B	HP:0000926	Platyspondyly	-	OMIM:259770
89866	SEC16B	HP:0000926	Platyspondyly	1/1	OMIM:612394
89866	SEC16B	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
89866	SEC16B	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
89866	SEC16B	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
89866	SEC16B	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
89866	SEC16B	HP:0000939	Osteoporosis	4/5	OMIM:259770
89866	SEC16B	HP:0000938	Osteopenia	1/5	OMIM:259770
89866	SEC16B	HP:0000938	Osteopenia	1/1	OMIM:612394
89866	SEC16B	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
89866	SEC16B	HP:0000272	Malar flattening	1/1	OMIM:612394
89866	SEC16B	HP:0007773	Vitreoretinopathy	-	OMIM:259770
89866	SEC16B	HP:0002808	Kyphosis	1/5	OMIM:259770
89866	SEC16B	HP:0000252	Microcephaly	-	OMIM:259770
89866	SEC16B	HP:0001552	Barrel-shaped chest	-	OMIM:259770
89866	SEC16B	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
89866	SEC16B	HP:0012368	Flat face	1/1	OMIM:612394
89866	SEC16B	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
89866	SEC16B	HP:0007875	Congenital blindness	4/5	OMIM:259770
89866	SEC16B	HP:0007862	Retinal calcification	1/5	OMIM:259770
89866	SEC16B	HP:0000369	Low-set ears	2/2	OMIM:612394
89866	SEC16B	HP:0002982	Tibial bowing	1/5	OMIM:259770
89866	SEC16B	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
89866	SEC16B	HP:0001629	Ventricular septal defect	-	OMIM:259770
89866	SEC16B	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
89866	SEC16B	HP:0000307	Pointed chin	1/2	OMIM:612394
89866	SEC16B	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
89866	SEC16B	HP:0000463	Anteverted nares	1/1	OMIM:612394
89866	SEC16B	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
89866	SEC16B	HP:0000518	Cataract	1/5	OMIM:259770
89866	SEC16B	HP:0000518	Cataract	1/1	OMIM:612394
89866	SEC16B	HP:0000586	Shallow orbits	1/1	OMIM:612394
89866	SEC16B	HP:0000568	Microphthalmia	1/5	OMIM:259770
89866	SEC16B	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
89866	SEC16B	HP:0000545	Myopia	1/1	OMIM:612394
89869	PLCZ1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617214
89869	PLCZ1	HP:0011462	Young adult onset	2/2	OMIM:617214
89869	PLCZ1	HP:0003251	Male infertility	2/2	OMIM:617214
89874	SLC25A21	HP:0002460	Distal muscle weakness	1/1	OMIM:618811
89874	SLC25A21	HP:0003701	Proximal muscle weakness	1/1	OMIM:618811
89874	SLC25A21	HP:0001284	Areflexia	1/1	OMIM:618811
89874	SLC25A21	HP:0002527	Falls	1/1	OMIM:618811
89874	SLC25A21	HP:0032341	Reduced forced vital capacity	1/1	OMIM:618811
89874	SLC25A21	HP:0000007	Autosomal recessive inheritance	-	OMIM:618811
89874	SLC25A21	HP:0001308	Tongue fasciculations	1/1	OMIM:618811
89874	SLC25A21	HP:0002650	Scoliosis	1/1	OMIM:618811
89874	SLC25A21	HP:0002169	Clonus	1/1	OMIM:618811
89874	SLC25A21	HP:6000335	Elevated urinary quinolinic acid level	1/1	OMIM:618811
89874	SLC25A21	HP:0003693	Distal amyotrophy	1/1	OMIM:618811
89874	SLC25A21	HP:0003648	Lacticaciduria	1/1	OMIM:618811
89874	SLC25A21	HP:0001935	Microcytic anemia	1/1	OMIM:618811
89874	SLC25A21	HP:0009027	Foot dorsiflexor weakness	1/1	OMIM:618811
89874	SLC25A21	HP:0009130	Hand muscle atrophy	1/1	OMIM:618811
89874	SLC25A21	HP:0040078	Axonal degeneration	1/1	OMIM:618811
89874	SLC25A21	HP:0001508	Failure to thrive	1/1	OMIM:618811
89874	SLC25A21	HP:0030319	Weakness of facial musculature	1/1	OMIM:618811
89876	CFAP91	HP:0033525	Absent sperm axoneme central pair complex	6/6	OMIM:619177
89876	CFAP91	HP:0000007	Autosomal recessive inheritance	-	OMIM:619177
89876	CFAP91	HP:0025437	Macrozoospermia	6/6	OMIM:619177
89876	CFAP91	HP:0032558	Absent sperm flagella	6/6	OMIM:619177
89876	CFAP91	HP:0032559	Short sperm flagella	6/6	OMIM:619177
89876	CFAP91	HP:0032560	Coiled sperm flagella	6/6	OMIM:619177
89876	CFAP91	HP:0032561	Microcephalic sperm head	6/6	OMIM:619177
89876	CFAP91	HP:0033393	Irregularly shaped sperm tail	6/6	OMIM:619177
89876	CFAP91	HP:0000798	Oligozoospermia	3/6	OMIM:619177
89876	CFAP91	HP:0012207	Reduced sperm motility	6/6	OMIM:619177
89884	LHX4	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:226307
89884	LHX4	HP:0003799	Marked delay in bone age	-	OMIM:262700
89884	LHX4	HP:0009888	Abnormality of secondary sexual hair	HP:0040282	ORPHA:95494
89884	LHX4	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
89884	LHX4	HP:0001293	Cranial nerve compression	-	OMIM:131300
89884	LHX4	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:226307
89884	LHX4	HP:0001274	Agenesis of corpus callosum	HP:0040284	ORPHA:95494
89884	LHX4	HP:0001254	Lethargy	HP:0040282	ORPHA:226307
89884	LHX4	HP:0001250	Seizure	HP:0040283	ORPHA:95496
89884	LHX4	HP:0001250	Seizure	HP:0040284	ORPHA:95494
89884	LHX4	HP:0001252	Hypotonia	HP:0040283	ORPHA:226307
89884	LHX4	HP:0001252	Hypotonia	2/7	OMIM:615777
89884	LHX4	HP:0001249	Intellectual disability	HP:0040283	ORPHA:95496
89884	LHX4	HP:0001249	Intellectual disability	5/7	OMIM:615777
89884	LHX4	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:226307
89884	LHX4	HP:0001263	Global developmental delay	HP:0040283	ORPHA:95496
89884	LHX4	HP:0001263	Global developmental delay	-	OMIM:615777
89884	LHX4	HP:0100842	Septo-optic dysplasia	HP:0040284	ORPHA:95494
89884	LHX4	HP:0100842	Septo-optic dysplasia	HP:0040283	ORPHA:95496
89884	LHX4	HP:0008734	Decreased testicular size	HP:0040282	ORPHA:95494
89884	LHX4	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:95496
89884	LHX4	HP:0031079	Impaired growth-hormone response to insulin stimulation test	-	OMIM:262700
89884	LHX4	HP:0031098	Decreased thyroid-stimulating hormone level	HP:0040281	ORPHA:226307
89884	LHX4	HP:0002515	Waddling gait	54/102	OMIM:131300
89884	LHX4	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:226307
89884	LHX4	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:95494
89884	LHX4	HP:0001382	Joint hypermobility	-	OMIM:615777
89884	LHX4	HP:0002694	Sclerosis of skull base	-	OMIM:131300
89884	LHX4	HP:0001360	Holoprosencephaly	HP:0040284	ORPHA:95494
89884	LHX4	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:95496
89884	LHX4	HP:0008897	Postnatal growth retardation	-	OMIM:615777
89884	LHX4	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:226307
89884	LHX4	HP:0008850	Severe postnatal growth retardation	-	OMIM:262700
89884	LHX4	HP:0008828	Delayed proximal femoral epiphyseal ossification	HP:0040282	ORPHA:226307
89884	LHX4	HP:0001331	Absent septum pellucidum	HP:0040284	ORPHA:95494
89884	LHX4	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
89884	LHX4	HP:0001324	Muscle weakness	40/96	OMIM:131300
89884	LHX4	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
89884	LHX4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
89884	LHX4	HP:0000006	Autosomal dominant inheritance	-	OMIM:262700
89884	LHX4	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
89884	LHX4	HP:0002650	Scoliosis	12/14	OMIM:131300
89884	LHX4	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:226307
89884	LHX4	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
89884	LHX4	HP:0002615	Hypotension	HP:0040282	ORPHA:95494
89884	LHX4	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
89884	LHX4	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
89884	LHX4	HP:0025483	Abnormal circulating thyroglobulin concentration	-	ORPHA:226307
89884	LHX4	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
89884	LHX4	HP:0000158	Macroglossia	HP:0040282	ORPHA:226307
89884	LHX4	HP:0000175	Cleft palate	2/7	OMIM:615777
89884	LHX4	HP:0000141	Amenorrhea	HP:0040282	ORPHA:95494
89884	LHX4	HP:0031218	Inappropriate antidiuretic hormone secretion	HP:0040283	ORPHA:226307
89884	LHX4	HP:0031219	Reduced radioactive iodine uptake	HP:0040281	ORPHA:226307
89884	LHX4	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:95494
89884	LHX4	HP:0002019	Constipation	HP:0040282	ORPHA:226307
89884	LHX4	HP:0002019	Constipation	HP:0040283	ORPHA:95494
89884	LHX4	HP:0005990	Thyroid hypoplasia	HP:0040282	ORPHA:226307
89884	LHX4	HP:0004637	Decreased cervical spine mobility	HP:0040283	ORPHA:226307
89884	LHX4	HP:0004637	Decreased cervical spine mobility	HP:0040284	ORPHA:95494
89884	LHX4	HP:0011800	Midface retrusion	HP:0040283	ORPHA:226307
89884	LHX4	HP:0002045	Hypothermia	HP:0040282	ORPHA:226307
89884	LHX4	HP:0003388	Easy fatigability	36/76	OMIM:131300
89884	LHX4	HP:0010442	Polydactyly	HP:0040284	ORPHA:95494
89884	LHX4	HP:0011755	Ectopic posterior pituitary	HP:0040284	ORPHA:95494
89884	LHX4	HP:0011755	Ectopic posterior pituitary	HP:0040283	ORPHA:226307
89884	LHX4	HP:0011755	Ectopic posterior pituitary	HP:0040280	ORPHA:95496
89884	LHX4	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
89884	LHX4	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:226307
89884	LHX4	HP:0008187	Absence of secondary sex characteristics	HP:0040283	ORPHA:95494
89884	LHX4	HP:0008245	Pituitary hypothyroidism	HP:0040281	ORPHA:226307
89884	LHX4	HP:0008245	Pituitary hypothyroidism	HP:0040282	ORPHA:95494
89884	LHX4	HP:0010538	Small sella turcica	4/4	OMIM:262700
89884	LHX4	HP:0008202	Reduced circulating prolactin concentration	HP:0040282	ORPHA:226307
89884	LHX4	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:226307
89884	LHX4	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:95494
89884	LHX4	HP:0010626	Anterior pituitary agenesis	HP:0040282	ORPHA:95494
89884	LHX4	HP:0003510	Severe short stature	7/7	OMIM:615777
89884	LHX4	HP:0002315	Headache	-	OMIM:131300
89884	LHX4	HP:0004976	Knee dislocation	6/7	OMIM:615777
89884	LHX4	HP:0009803	Short phalanx of finger	-	OMIM:615777
89884	LHX4	HP:0009763	Limb pain	63/92	OMIM:131300
89884	LHX4	HP:0003621	Juvenile onset	-	OMIM:131300
89884	LHX4	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
89884	LHX4	HP:0009099	Median cleft palate	HP:0040284	ORPHA:95494
89884	LHX4	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
89884	LHX4	HP:6001056	Out-toeing	-	OMIM:131300
89884	LHX4	HP:0000651	Diplopia	-	OMIM:131300
89884	LHX4	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:226307
89884	LHX4	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:95496
89884	LHX4	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:95494
89884	LHX4	HP:0001943	Hypoglycemia	-	OMIM:262700
89884	LHX4	HP:0001956	Truncal obesity	2/7	OMIM:615777
89884	LHX4	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:226307
89884	LHX4	HP:0000609	Optic nerve hypoplasia	HP:0040284	ORPHA:95494
89884	LHX4	HP:0001903	Anemia	HP:0040283	OMIM:131300
89884	LHX4	HP:0010049	Short metacarpal	-	OMIM:615777
89884	LHX4	HP:0011344	Severe global developmental delay	HP:0040284	ORPHA:95494
89884	LHX4	HP:0000678	Dental crowding	-	OMIM:615777
89884	LHX4	HP:0000670	Carious teeth	-	OMIM:131300
89884	LHX4	HP:0011304	Broad thumb	2/7	OMIM:615777
89884	LHX4	HP:0000668	Hypodontia	-	OMIM:615777
89884	LHX4	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:226307
89884	LHX4	HP:0000664	Synophrys	-	OMIM:615777
89884	LHX4	HP:0004322	Short stature	-	OMIM:262700
89884	LHX4	HP:0004322	Short stature	HP:0040281	ORPHA:95496
89884	LHX4	HP:0005625	Osteoporosis of vertebrae	HP:0040283	ORPHA:95494
89884	LHX4	HP:0004396	Poor appetite	-	OMIM:131300
89884	LHX4	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
89884	LHX4	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
89884	LHX4	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
89884	LHX4	HP:0003026	Short long bone	7/7	OMIM:615777
89884	LHX4	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
89884	LHX4	HP:0012731	Ectopic anterior pituitary gland	HP:0040284	ORPHA:95494
89884	LHX4	HP:0000767	Pectus excavatum	2/7	OMIM:615777
89884	LHX4	HP:0000768	Pectus carinatum	1/7	OMIM:615777
89884	LHX4	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
89884	LHX4	HP:0000750	Delayed speech and language development	-	OMIM:615777
89884	LHX4	HP:0011461	Fetal onset	7/7	OMIM:615777
89884	LHX4	HP:0011437	Maternal autoimmune disease	-	ORPHA:226307
89884	LHX4	HP:0000774	Narrow chest	2/7	OMIM:615777
89884	LHX4	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:226307
89884	LHX4	HP:0000789	Infertility	HP:0040282	ORPHA:95494
89884	LHX4	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:95496
89884	LHX4	HP:0000926	Platyspondyly	1/7	OMIM:615777
89884	LHX4	HP:0003180	Flat acetabular roof	-	OMIM:615777
89884	LHX4	HP:0004482	Relative macrocephaly	-	OMIM:615777
89884	LHX4	HP:0004491	Large posterior fontanelle	HP:0040282	ORPHA:226307
89884	LHX4	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
89884	LHX4	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:95496
89884	LHX4	HP:0000871	Panhypopituitarism	HP:0040282	ORPHA:226307
89884	LHX4	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040281	ORPHA:95496
89884	LHX4	HP:0000839	Pituitary dwarfism	HP:0040283	ORPHA:226307
89884	LHX4	HP:0000839	Pituitary dwarfism	-	OMIM:262700
89884	LHX4	HP:0000839	Pituitary dwarfism	HP:0040283	ORPHA:95494
89884	LHX4	HP:0000835	Adrenal hypoplasia	HP:0040283	ORPHA:95496
89884	LHX4	HP:0000846	Adrenal insufficiency	-	OMIM:262700
89884	LHX4	HP:0000821	Hypothyroidism	HP:0040282	ORPHA:95496
89884	LHX4	HP:0000821	Hypothyroidism	-	OMIM:262700
89884	LHX4	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:226307
89884	LHX4	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040282	ORPHA:95494
89884	LHX4	HP:0000823	Delayed puberty	-	OMIM:131300
89884	LHX4	HP:0000823	Delayed puberty	HP:0040282	ORPHA:95496
89884	LHX4	HP:0000823	Delayed puberty	HP:0040283	ORPHA:95494
89884	LHX4	HP:0040075	Hypopituitarism	HP:0040282	ORPHA:226307
89884	LHX4	HP:0040075	Hypopituitarism	HP:0040280	ORPHA:95494
89884	LHX4	HP:0040086	Abnormal prolactin level	HP:0040282	ORPHA:95494
89884	LHX4	HP:0000894	Short clavicles	-	OMIM:615777
89884	LHX4	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
89884	LHX4	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:95494
89884	LHX4	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
89884	LHX4	HP:0000938	Osteopenia	HP:0040282	ORPHA:95494
89884	LHX4	HP:0009381	Short finger	HP:0040283	ORPHA:226307
89884	LHX4	HP:0000286	Epicanthus	1/7	OMIM:615777
89884	LHX4	HP:0000282	Facial edema	HP:0040282	ORPHA:226307
89884	LHX4	HP:0000280	Coarse facial features	2/7	OMIM:615777
89884	LHX4	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:226307
89884	LHX4	HP:0002827	Hip dislocation	3/7	OMIM:615777
89884	LHX4	HP:0000252	Microcephaly	-	OMIM:615777
89884	LHX4	HP:0025502	Overweight	HP:0040283	ORPHA:226307
89884	LHX4	HP:0002857	Genu valgum	-	OMIM:131300
89884	LHX4	HP:0001522	Death in infancy	HP:0040283	ORPHA:95496
89884	LHX4	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:226307
89884	LHX4	HP:0001533	Slender build	-	OMIM:131300
89884	LHX4	HP:0001508	Failure to thrive	HP:0040281	ORPHA:95496
89884	LHX4	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
89884	LHX4	HP:0001510	Growth delay	HP:0040282	ORPHA:226307
89884	LHX4	HP:0001510	Growth delay	HP:0040282	ORPHA:95494
89884	LHX4	HP:0007807	Optic nerve compression	-	OMIM:131300
89884	LHX4	HP:0031507	Decreased circulating T4 concentration	HP:0040282	ORPHA:226307
89884	LHX4	HP:0012378	Fatigue	HP:0040282	ORPHA:226307
89884	LHX4	HP:0012378	Fatigue	HP:0040282	ORPHA:95494
89884	LHX4	HP:0012368	Flat face	7/7	OMIM:615777
89884	LHX4	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:226307
89884	LHX4	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
89884	LHX4	HP:0002920	Decreased circulating ACTH concentration	HP:0040282	ORPHA:95494
89884	LHX4	HP:0002920	Decreased circulating ACTH concentration	HP:0040283	ORPHA:226307
89884	LHX4	HP:0000365	Hearing impairment	10/67	OMIM:131300
89884	LHX4	HP:0000343	Long philtrum	1/7	OMIM:615777
89884	LHX4	HP:0011001	Increased bone mineral density	-	OMIM:131300
89884	LHX4	HP:0000311	Round face	2/7	OMIM:615777
89884	LHX4	HP:0001662	Bradycardia	HP:0040282	ORPHA:226307
89884	LHX4	HP:0002970	Genu varum	-	OMIM:615777
89884	LHX4	HP:0000303	Mandibular prognathia	-	OMIM:131300
89884	LHX4	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:226307
89884	LHX4	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:226307
89884	LHX4	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
89884	LHX4	HP:0000478	Abnormality of the eye	HP:0040284	ORPHA:95494
89884	LHX4	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:95494
89884	LHX4	HP:0000470	Short neck	HP:0040283	ORPHA:226307
89884	LHX4	HP:0000470	Short neck	1/7	OMIM:615777
89884	LHX4	HP:0001769	Broad foot	HP:0040283	OMIM:615777
89884	LHX4	HP:0001763	Pes planus	1/7	OMIM:615777
89884	LHX4	HP:0011297	Abnormal digit morphology	HP:0040284	ORPHA:95494
89884	LHX4	HP:0001840	Metatarsus adductus	-	OMIM:615777
89884	LHX4	HP:0000520	Proptosis	2/4	OMIM:131300
89884	LHX4	HP:0000520	Proptosis	7/7	OMIM:615777
89884	LHX4	HP:0030344	Decreased circulating luteinizing hormone level	HP:0040283	ORPHA:226307
89884	LHX4	HP:0030341	Decreased circulating follicle stimulating hormone concentration	HP:0040283	ORPHA:226307
89884	LHX4	HP:0000592	Blue sclerae	2/7	OMIM:615777
89884	LHX4	HP:0011220	Prominent forehead	HP:0040283	ORPHA:226307
89884	LHX4	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
89884	LHX4	HP:0012514	Lower limb pain	4/4	OMIM:131300
89891	DYNC2I2	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:93271
89891	DYNC2I2	HP:0001156	Brachydactyly	HP:0040282	ORPHA:474
89891	DYNC2I2	HP:0001156	Brachydactyly	-	OMIM:615633
89891	DYNC2I2	HP:0001162	Postaxial hand polydactyly	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:474
89891	DYNC2I2	HP:0003762	Uterus didelphys	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
89891	DYNC2I2	HP:0001293	Cranial nerve compression	-	OMIM:131300
89891	DYNC2I2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:93271
89891	DYNC2I2	HP:0001252	Hypotonia	2/7	OMIM:615777
89891	DYNC2I2	HP:0001249	Intellectual disability	5/7	OMIM:615777
89891	DYNC2I2	HP:0001263	Global developmental delay	-	OMIM:615777
89891	DYNC2I2	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0008716	Urethrovaginal fistula	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0002515	Waddling gait	54/102	OMIM:131300
89891	DYNC2I2	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:474
89891	DYNC2I2	HP:0000090	Nephronophthisis	HP:0040283	ORPHA:474
89891	DYNC2I2	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:474
89891	DYNC2I2	HP:0001382	Joint hypermobility	-	OMIM:615777
89891	DYNC2I2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
89891	DYNC2I2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0000028	Cryptorchidism	HP:0040283	OMIM:615633
89891	DYNC2I2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
89891	DYNC2I2	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:93271
89891	DYNC2I2	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:474
89891	DYNC2I2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
89891	DYNC2I2	HP:0001324	Muscle weakness	40/96	OMIM:131300
89891	DYNC2I2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
89891	DYNC2I2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
89891	DYNC2I2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615633
89891	DYNC2I2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
89891	DYNC2I2	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:93271
89891	DYNC2I2	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:474
89891	DYNC2I2	HP:0002650	Scoliosis	12/14	OMIM:131300
89891	DYNC2I2	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:93271
89891	DYNC2I2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
89891	DYNC2I2	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:474
89891	DYNC2I2	HP:0002612	Congenital hepatic fibrosis	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
89891	DYNC2I2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
89891	DYNC2I2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
89891	DYNC2I2	HP:0000175	Cleft palate	2/7	OMIM:615777
89891	DYNC2I2	HP:0000121	Nephrocalcinosis	HP:0040283	OMIM:615633
89891	DYNC2I2	HP:0000126	Hydronephrosis	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0000112	Nephropathy	HP:0040283	ORPHA:474
89891	DYNC2I2	HP:0000107	Renal cyst	HP:0040283	ORPHA:93271
89891	DYNC2I2	HP:0002023	Anal atresia	HP:0040283	ORPHA:93271
89891	DYNC2I2	HP:0002032	Esophageal atresia	HP:0040283	ORPHA:93271
89891	DYNC2I2	HP:0002007	Frontal bossing	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0002006	Tessier cleft	HP:0040283	ORPHA:93271
89891	DYNC2I2	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:93271
89891	DYNC2I2	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:93271
89891	DYNC2I2	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:474
89891	DYNC2I2	HP:0002093	Respiratory insufficiency	-	OMIM:615633
89891	DYNC2I2	HP:0003388	Easy fatigability	36/76	OMIM:131300
89891	DYNC2I2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
89891	DYNC2I2	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:93271
89891	DYNC2I2	HP:0010564	Bifid epiglottis	HP:0040283	ORPHA:93271
89891	DYNC2I2	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:474
89891	DYNC2I2	HP:0002205	Recurrent respiratory infections	-	OMIM:615633
89891	DYNC2I2	HP:0003510	Severe short stature	7/7	OMIM:615777
89891	DYNC2I2	HP:0002315	Headache	-	OMIM:131300
89891	DYNC2I2	HP:0004976	Knee dislocation	6/7	OMIM:615777
89891	DYNC2I2	HP:0009803	Short phalanx of finger	-	OMIM:615777
89891	DYNC2I2	HP:0009763	Limb pain	63/92	OMIM:131300
89891	DYNC2I2	HP:0003621	Juvenile onset	-	OMIM:131300
89891	DYNC2I2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
89891	DYNC2I2	HP:0004279	Short palm	HP:0040281	ORPHA:93271
89891	DYNC2I2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
89891	DYNC2I2	HP:6001056	Out-toeing	-	OMIM:131300
89891	DYNC2I2	HP:0000651	Diplopia	-	OMIM:131300
89891	DYNC2I2	HP:0001956	Truncal obesity	2/7	OMIM:615777
89891	DYNC2I2	HP:0001903	Anemia	HP:0040283	OMIM:131300
89891	DYNC2I2	HP:0010049	Short metacarpal	-	OMIM:615777
89891	DYNC2I2	HP:0000678	Dental crowding	-	OMIM:615777
89891	DYNC2I2	HP:0000670	Carious teeth	-	OMIM:131300
89891	DYNC2I2	HP:0011304	Broad thumb	2/7	OMIM:615777
89891	DYNC2I2	HP:0000668	Hypodontia	-	OMIM:615777
89891	DYNC2I2	HP:0000664	Synophrys	-	OMIM:615777
89891	DYNC2I2	HP:0004322	Short stature	HP:0040283	ORPHA:474
89891	DYNC2I2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0004397	Ectopic anus	HP:0040283	ORPHA:93271
89891	DYNC2I2	HP:0004396	Poor appetite	-	OMIM:131300
89891	DYNC2I2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
89891	DYNC2I2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
89891	DYNC2I2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
89891	DYNC2I2	HP:0003026	Short long bone	-	OMIM:615633
89891	DYNC2I2	HP:0003026	Short long bone	7/7	OMIM:615777
89891	DYNC2I2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
89891	DYNC2I2	HP:0009106	Abnormal pelvis bone ossification	HP:0040281	ORPHA:93271
89891	DYNC2I2	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:474
89891	DYNC2I2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
89891	DYNC2I2	HP:0000766	Abnormal sternum morphology	HP:0040282	ORPHA:474
89891	DYNC2I2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
89891	DYNC2I2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
89891	DYNC2I2	HP:0000750	Delayed speech and language development	HP:0040283	OMIM:615633
89891	DYNC2I2	HP:0000750	Delayed speech and language development	-	OMIM:615777
89891	DYNC2I2	HP:0011461	Fetal onset	7/7	OMIM:615777
89891	DYNC2I2	HP:0000774	Narrow chest	HP:0040281	ORPHA:93271
89891	DYNC2I2	HP:0000774	Narrow chest	HP:0040281	ORPHA:474
89891	DYNC2I2	HP:0000774	Narrow chest	-	OMIM:615633
89891	DYNC2I2	HP:0000774	Narrow chest	2/7	OMIM:615777
89891	DYNC2I2	HP:0000773	Short ribs	HP:0040281	ORPHA:93271
89891	DYNC2I2	HP:0005716	Lethal skeletal dysplasia	HP:0040281	ORPHA:93271
89891	DYNC2I2	HP:0000926	Platyspondyly	1/7	OMIM:615777
89891	DYNC2I2	HP:0003180	Flat acetabular roof	-	OMIM:615777
89891	DYNC2I2	HP:0004482	Relative macrocephaly	-	OMIM:615777
89891	DYNC2I2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
89891	DYNC2I2	HP:0000888	Horizontal ribs	-	OMIM:615633
89891	DYNC2I2	HP:0000889	Abnormal clavicle morphology	HP:0040282	ORPHA:474
89891	DYNC2I2	HP:0000823	Delayed puberty	-	OMIM:131300
89891	DYNC2I2	HP:0010297	Bifid tongue	HP:0040283	ORPHA:93271
89891	DYNC2I2	HP:0000895	Lateral clavicle hook	-	OMIM:615633
89891	DYNC2I2	HP:0000894	Short clavicles	-	OMIM:615777
89891	DYNC2I2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
89891	DYNC2I2	HP:0003270	Abdominal distention	HP:0040281	ORPHA:93271
89891	DYNC2I2	HP:0004599	Absent or minimally ossified vertebral bodies	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0100259	Postaxial polydactyly	HP:0040283	OMIM:615633
89891	DYNC2I2	HP:0010306	Short thorax	HP:0040281	ORPHA:474
89891	DYNC2I2	HP:0010306	Short thorax	HP:0040281	ORPHA:93271
89891	DYNC2I2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
89891	DYNC2I2	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:474
89891	DYNC2I2	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:93271
89891	DYNC2I2	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:474
89891	DYNC2I2	HP:0000286	Epicanthus	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0000286	Epicanthus	1/7	OMIM:615777
89891	DYNC2I2	HP:0000280	Coarse facial features	2/7	OMIM:615777
89891	DYNC2I2	HP:0001591	Bell-shaped thorax	-	OMIM:615633
89891	DYNC2I2	HP:0000256	Macrocephaly	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0002827	Hip dislocation	3/7	OMIM:615777
89891	DYNC2I2	HP:0000252	Microcephaly	-	OMIM:615777
89891	DYNC2I2	HP:0001561	Polyhydramnios	HP:0040283	OMIM:615633
89891	DYNC2I2	HP:0002857	Genu valgum	-	OMIM:131300
89891	DYNC2I2	HP:0001539	Omphalocele	HP:0040283	ORPHA:93271
89891	DYNC2I2	HP:0001533	Slender build	-	OMIM:131300
89891	DYNC2I2	HP:0000204	Cleft upper lip	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
89891	DYNC2I2	HP:0001513	Obesity	HP:0040283	OMIM:615633
89891	DYNC2I2	HP:0007807	Optic nerve compression	-	OMIM:131300
89891	DYNC2I2	HP:0012368	Flat face	7/7	OMIM:615777
89891	DYNC2I2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
89891	DYNC2I2	HP:0000365	Hearing impairment	10/67	OMIM:131300
89891	DYNC2I2	HP:0000343	Long philtrum	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0000343	Long philtrum	1/7	OMIM:615777
89891	DYNC2I2	HP:0011001	Increased bone mineral density	-	OMIM:131300
89891	DYNC2I2	HP:0000347	Micrognathia	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0002983	Micromelia	HP:0040281	ORPHA:93271
89891	DYNC2I2	HP:0002983	Micromelia	HP:0040281	ORPHA:474
89891	DYNC2I2	HP:0000311	Round face	2/7	OMIM:615777
89891	DYNC2I2	HP:0002970	Genu varum	-	OMIM:615777
89891	DYNC2I2	HP:0000303	Mandibular prognathia	-	OMIM:131300
89891	DYNC2I2	HP:0006644	Thoracic dysplasia	-	OMIM:615633
89891	DYNC2I2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
89891	DYNC2I2	HP:0001789	Hydrops fetalis	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0000470	Short neck	1/7	OMIM:615777
89891	DYNC2I2	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:474
89891	DYNC2I2	HP:0001773	Short foot	HP:0040281	ORPHA:93271
89891	DYNC2I2	HP:0001773	Short foot	HP:0040282	ORPHA:474
89891	DYNC2I2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
89891	DYNC2I2	HP:0001763	Pes planus	1/7	OMIM:615777
89891	DYNC2I2	HP:0000445	Wide nose	HP:0040282	ORPHA:93271
89891	DYNC2I2	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040283	ORPHA:474
89891	DYNC2I2	HP:0000518	Cataract	HP:0040283	ORPHA:93271
89891	DYNC2I2	HP:0000510	Rod-cone dystrophy	HP:0040283	OMIM:615633
89891	DYNC2I2	HP:0001840	Metatarsus adductus	-	OMIM:615777
89891	DYNC2I2	HP:0000520	Proptosis	2/4	OMIM:131300
89891	DYNC2I2	HP:0000520	Proptosis	7/7	OMIM:615777
89891	DYNC2I2	HP:0001830	Postaxial foot polydactyly	HP:0040283	ORPHA:474
89891	DYNC2I2	HP:0000592	Blue sclerae	2/7	OMIM:615777
89891	DYNC2I2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
89891	DYNC2I2	HP:0012514	Lower limb pain	4/4	OMIM:131300
89910	UBE3B	HP:0001166	Arachnodactyly	HP:0040281	ORPHA:2707
89910	UBE3B	HP:0001135	Chorioretinal dystrophy	HP:0040283	ORPHA:2707
89910	UBE3B	HP:0001139	Choroideremia	HP:0040283	ORPHA:2707
89910	UBE3B	HP:0010864	Intellectual disability, severe	4/4	OMIM:244450
89910	UBE3B	HP:0001290	Generalized hypotonia	-	OMIM:244450
89910	UBE3B	HP:0001270	Motor delay	4/4	OMIM:244450
89910	UBE3B	HP:0001252	Hypotonia	-	OMIM:244450
89910	UBE3B	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2707
89910	UBE3B	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2707
89910	UBE3B	HP:0002566	Intestinal malrotation	-	OMIM:244450
89910	UBE3B	HP:0008665	Clitoral hypertrophy	-	OMIM:244450
89910	UBE3B	HP:0008665	Clitoral hypertrophy	HP:0040283	ORPHA:2707
89910	UBE3B	HP:0000059	Hypoplastic labia majora	-	OMIM:244450
89910	UBE3B	HP:0001374	Congenital hip dislocation	-	OMIM:244450
89910	UBE3B	HP:0008872	Feeding difficulties in infancy	4/4	OMIM:244450
89910	UBE3B	HP:0001328	Specific learning disability	HP:0040281	ORPHA:2707
89910	UBE3B	HP:0001344	Absent speech	4/4	OMIM:244450
89910	UBE3B	HP:0000007	Autosomal recessive inheritance	-	OMIM:244450
89910	UBE3B	HP:0002643	Neonatal respiratory distress	2/4	OMIM:244450
89910	UBE3B	HP:0000160	Narrow mouth	4/4	OMIM:244450
89910	UBE3B	HP:0000159	Abnormal lip morphology	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0000177	Abnormal upper lip morphology	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0000154	Wide mouth	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0008936	Axial hypotonia	4/4	OMIM:244450
89910	UBE3B	HP:0002705	High, narrow palate	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0002719	Recurrent infections	3/4	OMIM:244450
89910	UBE3B	HP:0002019	Constipation	2/4	OMIM:244450
89910	UBE3B	HP:0003300	Ovoid vertebral bodies	-	OMIM:244450
89910	UBE3B	HP:0002098	Respiratory distress	HP:0040281	ORPHA:2707
89910	UBE3B	HP:0002094	Dyspnea	HP:0040281	ORPHA:2707
89910	UBE3B	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:244450
89910	UBE3B	HP:0002119	Ventriculomegaly	-	OMIM:244450
89910	UBE3B	HP:0010547	Muscle flaccidity	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0003577	Congenital onset	4/4	OMIM:244450
89910	UBE3B	HP:0002223	Absent eyebrow	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0004209	Clinodactyly of the 5th finger	2/4	OMIM:244450
89910	UBE3B	HP:0004283	Narrow palm	-	OMIM:244450
89910	UBE3B	HP:0000639	Nystagmus	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0000639	Nystagmus	4/4	OMIM:244450
89910	UBE3B	HP:0000648	Optic atrophy	HP:0040281	ORPHA:2707
89910	UBE3B	HP:0000699	Diastema	-	OMIM:244450
89910	UBE3B	HP:0000691	Microdontia	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0000670	Carious teeth	-	OMIM:244450
89910	UBE3B	HP:0011302	Long palm	-	OMIM:244450
89910	UBE3B	HP:0004322	Short stature	-	OMIM:244450
89910	UBE3B	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0003196	Short nose	-	OMIM:244450
89910	UBE3B	HP:0003146	Hypocholesterolemia	2/4	OMIM:244450
89910	UBE3B	HP:0045075	Sparse eyebrow	4/4	OMIM:244450
89910	UBE3B	HP:0045074	Thin eyebrow	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0000954	Single transverse palmar crease	-	OMIM:244450
89910	UBE3B	HP:0000963	Thin skin	4/4	OMIM:244450
89910	UBE3B	HP:0008070	Sparse hair	4/4	OMIM:244450
89910	UBE3B	HP:0000286	Epicanthus	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0000286	Epicanthus	-	OMIM:244450
89910	UBE3B	HP:0000278	Retrognathia	HP:0040281	ORPHA:2707
89910	UBE3B	HP:0001591	Bell-shaped thorax	-	OMIM:244450
89910	UBE3B	HP:0000275	Narrow face	2/4	OMIM:244450
89910	UBE3B	HP:0000275	Narrow face	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0000276	Long face	-	OMIM:244450
89910	UBE3B	HP:0000276	Long face	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0000252	Microcephaly	HP:0040281	ORPHA:2707
89910	UBE3B	HP:0000252	Microcephaly	-	OMIM:244450
89910	UBE3B	HP:0000248	Brachycephaly	-	OMIM:244450
89910	UBE3B	HP:0000248	Brachycephaly	HP:0040281	ORPHA:2707
89910	UBE3B	HP:0000219	Thin upper lip vermilion	20/20	OMIM:244450
89910	UBE3B	HP:0002878	Respiratory failure	HP:0040281	ORPHA:2707
89910	UBE3B	HP:0000218	High palate	1/4	OMIM:244450
89910	UBE3B	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0001508	Failure to thrive	4/4	OMIM:244450
89910	UBE3B	HP:0001510	Growth delay	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0006511	Laryngeal stridor	-	OMIM:244450
89910	UBE3B	HP:0000384	Preauricular skin tag	1/4	OMIM:244450
89910	UBE3B	HP:0000384	Preauricular skin tag	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0000377	Abnormal pinna morphology	-	OMIM:244450
89910	UBE3B	HP:0001601	Laryngomalacia	-	OMIM:244450
89910	UBE3B	HP:0000369	Low-set ears	4/4	OMIM:244450
89910	UBE3B	HP:0001680	Coarctation of aorta	-	OMIM:244450
89910	UBE3B	HP:0000347	Micrognathia	HP:0040281	ORPHA:2707
89910	UBE3B	HP:0000347	Micrognathia	4/4	OMIM:244450
89910	UBE3B	HP:0000319	Smooth philtrum	-	OMIM:244450
89910	UBE3B	HP:0000319	Smooth philtrum	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0000316	Hypertelorism	3/4	OMIM:244450
89910	UBE3B	HP:0000322	Short philtrum	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0001629	Ventricular septal defect	-	OMIM:244450
89910	UBE3B	HP:0001631	Atrial septal defect	2/4	OMIM:244450
89910	UBE3B	HP:0005280	Depressed nasal bridge	4/4	OMIM:244450
89910	UBE3B	HP:0000483	Astigmatism	-	OMIM:244450
89910	UBE3B	HP:0000486	Strabismus	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0000486	Strabismus	-	OMIM:244450
89910	UBE3B	HP:0000482	Microcornea	-	OMIM:244450
89910	UBE3B	HP:0000482	Microcornea	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0000463	Anteverted nares	4/4	OMIM:244450
89910	UBE3B	HP:0005469	Flat occiput	HP:0040281	ORPHA:2707
89910	UBE3B	HP:0001840	Metatarsus adductus	-	OMIM:244450
89910	UBE3B	HP:0000506	Telecanthus	4/4	OMIM:244450
89910	UBE3B	HP:0000506	Telecanthus	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0000508	Ptosis	3/4	OMIM:244450
89910	UBE3B	HP:0001833	Long foot	HP:0040281	ORPHA:2707
89910	UBE3B	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2707
89910	UBE3B	HP:0000582	Upslanted palpebral fissure	2/4	OMIM:244450
89910	UBE3B	HP:0000581	Blepharophimosis	4/4	OMIM:244450
89910	UBE3B	HP:0000581	Blepharophimosis	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0000587	Abnormal optic nerve morphology	HP:0040281	ORPHA:2707
89910	UBE3B	HP:0000543	Optic disc pallor	-	OMIM:244450
89910	UBE3B	HP:0000545	Myopia	HP:0040282	ORPHA:2707
89910	UBE3B	HP:0000545	Myopia	-	OMIM:244450
89970	RSPRY1	HP:0001156	Brachydactyly	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0008551	Microtia	-	OMIM:616723
89970	RSPRY1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
89970	RSPRY1	HP:0001293	Cranial nerve compression	-	OMIM:131300
89970	RSPRY1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0001290	Generalized hypotonia	HP:0040283	OMIM:616723
89970	RSPRY1	HP:0001270	Motor delay	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0001270	Motor delay	5/5	OMIM:616723
89970	RSPRY1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0001252	Hypotonia	2/7	OMIM:615777
89970	RSPRY1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0001249	Intellectual disability	5/5	OMIM:616723
89970	RSPRY1	HP:0001249	Intellectual disability	5/7	OMIM:615777
89970	RSPRY1	HP:0001263	Global developmental delay	-	OMIM:615777
89970	RSPRY1	HP:0100864	Short femoral neck	5/5	OMIM:616723
89970	RSPRY1	HP:0100864	Short femoral neck	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0002515	Waddling gait	54/102	OMIM:131300
89970	RSPRY1	HP:0008812	Flattened femoral head	HP:0040283	ORPHA:457395
89970	RSPRY1	HP:0001377	Limited elbow extension	1/1	OMIM:616723
89970	RSPRY1	HP:0001377	Limited elbow extension	HP:0040283	ORPHA:457395
89970	RSPRY1	HP:0001382	Joint hypermobility	-	OMIM:615777
89970	RSPRY1	HP:0002678	Skull asymmetry	-	OMIM:616723
89970	RSPRY1	HP:0002677	Small foramen magnum	HP:0040283	ORPHA:457395
89970	RSPRY1	HP:0001363	Craniosynostosis	4/5	OMIM:616723
89970	RSPRY1	HP:0001363	Craniosynostosis	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
89970	RSPRY1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
89970	RSPRY1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
89970	RSPRY1	HP:0001324	Muscle weakness	40/96	OMIM:131300
89970	RSPRY1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
89970	RSPRY1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
89970	RSPRY1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616723
89970	RSPRY1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
89970	RSPRY1	HP:0002650	Scoliosis	5/5	OMIM:616723
89970	RSPRY1	HP:0002650	Scoliosis	12/14	OMIM:131300
89970	RSPRY1	HP:0002651	Spondyloepimetaphyseal dysplasia	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
89970	RSPRY1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
89970	RSPRY1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
89970	RSPRY1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
89970	RSPRY1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0001498	Carpal bone hypoplasia	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0001498	Carpal bone hypoplasia	5/5	OMIM:616723
89970	RSPRY1	HP:0000175	Cleft palate	2/7	OMIM:615777
89970	RSPRY1	HP:0002751	Kyphoscoliosis	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0002750	Delayed skeletal maturation	5/5	OMIM:616723
89970	RSPRY1	HP:0004689	Short fourth metatarsal	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0004689	Short fourth metatarsal	5/5	OMIM:616723
89970	RSPRY1	HP:0002007	Frontal bossing	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0002007	Frontal bossing	1/1	OMIM:616723
89970	RSPRY1	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:457395
89970	RSPRY1	HP:0003388	Easy fatigability	36/76	OMIM:131300
89970	RSPRY1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
89970	RSPRY1	HP:0040261	Increased size of nasopharyngeal adenoids	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0010585	Small epiphyses	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0010585	Small epiphyses	-	OMIM:616723
89970	RSPRY1	HP:0010579	Cone-shaped epiphysis	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0003593	Infantile onset	1/1	OMIM:616723
89970	RSPRY1	HP:0003510	Severe short stature	7/7	OMIM:615777
89970	RSPRY1	HP:0003521	Disproportionate short-trunk short stature	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:457395
89970	RSPRY1	HP:0002315	Headache	-	OMIM:131300
89970	RSPRY1	HP:0004976	Knee dislocation	6/7	OMIM:615777
89970	RSPRY1	HP:0010804	Tented upper lip vermilion	1/1	OMIM:616723
89970	RSPRY1	HP:0010804	Tented upper lip vermilion	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0009803	Short phalanx of finger	-	OMIM:615777
89970	RSPRY1	HP:0009763	Limb pain	63/92	OMIM:131300
89970	RSPRY1	HP:0003621	Juvenile onset	-	OMIM:131300
89970	RSPRY1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
89970	RSPRY1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0006863	Severe expressive language delay	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0004279	Short palm	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
89970	RSPRY1	HP:6001056	Out-toeing	-	OMIM:131300
89970	RSPRY1	HP:0000651	Diplopia	-	OMIM:131300
89970	RSPRY1	HP:0001956	Truncal obesity	2/7	OMIM:615777
89970	RSPRY1	HP:0001903	Anemia	HP:0040283	OMIM:131300
89970	RSPRY1	HP:0010049	Short metacarpal	-	OMIM:616723
89970	RSPRY1	HP:0010049	Short metacarpal	-	OMIM:615777
89970	RSPRY1	HP:0010049	Short metacarpal	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0000678	Dental crowding	-	OMIM:615777
89970	RSPRY1	HP:0000670	Carious teeth	-	OMIM:131300
89970	RSPRY1	HP:0011304	Broad thumb	2/7	OMIM:615777
89970	RSPRY1	HP:0000668	Hypodontia	-	OMIM:615777
89970	RSPRY1	HP:0000664	Synophrys	-	OMIM:615777
89970	RSPRY1	HP:0004322	Short stature	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0004322	Short stature	5/5	OMIM:616723
89970	RSPRY1	HP:0005639	Hyperextensible hand joints	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0004396	Poor appetite	-	OMIM:131300
89970	RSPRY1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
89970	RSPRY1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
89970	RSPRY1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
89970	RSPRY1	HP:0003026	Short long bone	7/7	OMIM:615777
89970	RSPRY1	HP:0003026	Short long bone	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
89970	RSPRY1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
89970	RSPRY1	HP:0000766	Abnormal sternum morphology	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
89970	RSPRY1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
89970	RSPRY1	HP:0000750	Delayed speech and language development	1/1	OMIM:616723
89970	RSPRY1	HP:0000750	Delayed speech and language development	-	OMIM:615777
89970	RSPRY1	HP:0000729	Autistic behavior	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0000729	Autistic behavior	1/1	OMIM:616723
89970	RSPRY1	HP:0011461	Fetal onset	7/7	OMIM:615777
89970	RSPRY1	HP:0000774	Narrow chest	2/7	OMIM:615777
89970	RSPRY1	HP:0003100	Slender long bone	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0003196	Short nose	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0003196	Short nose	1/1	OMIM:616723
89970	RSPRY1	HP:0000926	Platyspondyly	5/5	OMIM:616723
89970	RSPRY1	HP:0000926	Platyspondyly	1/7	OMIM:615777
89970	RSPRY1	HP:0000926	Platyspondyly	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0003180	Flat acetabular roof	-	OMIM:615777
89970	RSPRY1	HP:0004482	Relative macrocephaly	-	OMIM:615777
89970	RSPRY1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
89970	RSPRY1	HP:0000823	Delayed puberty	-	OMIM:131300
89970	RSPRY1	HP:0000894	Short clavicles	-	OMIM:615777
89970	RSPRY1	HP:0004568	Beaking of vertebral bodies	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
89970	RSPRY1	HP:0003275	Narrow pelvis bone	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0003275	Narrow pelvis bone	-	OMIM:616723
89970	RSPRY1	HP:0003272	Abnormal hip bone morphology	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0004592	Thoracic platyspondyly	HP:0040283	ORPHA:457395
89970	RSPRY1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
89970	RSPRY1	HP:0000938	Osteopenia	-	OMIM:616723
89970	RSPRY1	HP:0000938	Osteopenia	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0000286	Epicanthus	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0000286	Epicanthus	1/1	OMIM:616723
89970	RSPRY1	HP:0000286	Epicanthus	1/7	OMIM:615777
89970	RSPRY1	HP:0000280	Coarse facial features	2/7	OMIM:615777
89970	RSPRY1	HP:0000272	Malar flattening	-	OMIM:616723
89970	RSPRY1	HP:0000272	Malar flattening	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0006461	Proximal femoral epiphysiolysis	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0006461	Proximal femoral epiphysiolysis	-	OMIM:616723
89970	RSPRY1	HP:0005096	Distal femoral bowing	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0002815	Abnormality of the knee	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0002812	Coxa vara	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0002827	Hip dislocation	3/7	OMIM:615777
89970	RSPRY1	HP:0000252	Microcephaly	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0000252	Microcephaly	5/5	OMIM:616723
89970	RSPRY1	HP:0000252	Microcephaly	-	OMIM:615777
89970	RSPRY1	HP:0002857	Genu valgum	-	OMIM:131300
89970	RSPRY1	HP:0002857	Genu valgum	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0001533	Slender build	-	OMIM:131300
89970	RSPRY1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
89970	RSPRY1	HP:0007807	Optic nerve compression	-	OMIM:131300
89970	RSPRY1	HP:0012368	Flat face	7/7	OMIM:615777
89970	RSPRY1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
89970	RSPRY1	HP:0002944	Thoracolumbar scoliosis	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0002944	Thoracolumbar scoliosis	-	OMIM:616723
89970	RSPRY1	HP:0000365	Hearing impairment	10/67	OMIM:131300
89970	RSPRY1	HP:0000369	Low-set ears	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0000369	Low-set ears	1/1	OMIM:616723
89970	RSPRY1	HP:0000343	Long philtrum	1/7	OMIM:615777
89970	RSPRY1	HP:0011001	Increased bone mineral density	-	OMIM:131300
89970	RSPRY1	HP:0002980	Femoral bowing	-	OMIM:616723
89970	RSPRY1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0000316	Hypertelorism	1/1	OMIM:616723
89970	RSPRY1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:457395
89970	RSPRY1	HP:0000311	Round face	2/7	OMIM:615777
89970	RSPRY1	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:457395
89970	RSPRY1	HP:0001655	Patent foramen ovale	HP:0040283	ORPHA:457395
89970	RSPRY1	HP:0002970	Genu varum	-	OMIM:615777
89970	RSPRY1	HP:0002967	Cubitus valgus	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0000303	Mandibular prognathia	-	OMIM:131300
89970	RSPRY1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0005280	Depressed nasal bridge	-	OMIM:616723
89970	RSPRY1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
89970	RSPRY1	HP:0000486	Strabismus	HP:0040283	ORPHA:457395
89970	RSPRY1	HP:0000486	Strabismus	-	OMIM:616723
89970	RSPRY1	HP:0012471	Thick vermilion border	-	OMIM:616723
89970	RSPRY1	HP:0012471	Thick vermilion border	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0001788	Premature rupture of membranes	1/1	OMIM:616723
89970	RSPRY1	HP:0000470	Short neck	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0000470	Short neck	-	OMIM:616723
89970	RSPRY1	HP:0000470	Short neck	1/7	OMIM:615777
89970	RSPRY1	HP:0012428	Prominent calcaneus	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
89970	RSPRY1	HP:0001763	Pes planus	1/7	OMIM:615777
89970	RSPRY1	HP:0001763	Pes planus	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0001761	Pes cavus	HP:0040283	ORPHA:457395
89970	RSPRY1	HP:0030293	Fibular metaphyseal irregularity	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0030292	Tibial metaphyseal irregularity	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0030427	Ossifying fibroma of the jaw	HP:0040283	ORPHA:457395
89970	RSPRY1	HP:0001845	Overlapping toe	5/5	OMIM:616723
89970	RSPRY1	HP:0001845	Overlapping toe	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0001840	Metatarsus adductus	-	OMIM:615777
89970	RSPRY1	HP:0000520	Proptosis	2/4	OMIM:131300
89970	RSPRY1	HP:0000520	Proptosis	7/7	OMIM:615777
89970	RSPRY1	HP:0000520	Proptosis	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0001838	Rocker bottom foot	HP:0040282	ORPHA:457395
89970	RSPRY1	HP:0000508	Ptosis	-	OMIM:616723
89970	RSPRY1	HP:0000598	Abnormality of the ear	HP:0040281	ORPHA:457395
89970	RSPRY1	HP:0000592	Blue sclerae	2/7	OMIM:615777
89970	RSPRY1	HP:0001863	Toe clinodactyly	HP:0040283	ORPHA:457395
89970	RSPRY1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
89970	RSPRY1	HP:0012514	Lower limb pain	4/4	OMIM:131300
90121	TSR2	HP:0009944	Partial duplication of thumb phalanx	HP:0040283	ORPHA:124
90121	TSR2	HP:0001199	Triphalangeal thumb	HP:0040283	ORPHA:124
90121	TSR2	HP:0008551	Microtia	HP:0040284	ORPHA:124
90121	TSR2	HP:0008551	Microtia	2/2	OMIM:300946
90121	TSR2	HP:0001254	Lethargy	HP:0040282	ORPHA:124
90121	TSR2	HP:0001227	Abnormality of the thenar eminence	HP:0040283	ORPHA:124
90121	TSR2	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:124
90121	TSR2	HP:0000047	Hypospadias	HP:0040283	ORPHA:124
90121	TSR2	HP:0002669	Osteosarcoma	HP:0040284	ORPHA:124
90121	TSR2	HP:0000185	Cleft soft palate	HP:0040283	ORPHA:124
90121	TSR2	HP:0000175	Cleft palate	2/2	OMIM:300946
90121	TSR2	HP:0012133	Erythroid hypoplasia	HP:0040282	ORPHA:124
90121	TSR2	HP:0410030	Cleft lip	HP:0040283	ORPHA:124
90121	TSR2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:124
90121	TSR2	HP:0000104	Renal agenesis	HP:0040283	ORPHA:124
90121	TSR2	HP:0001419	X-linked recessive inheritance	-	OMIM:300946
90121	TSR2	HP:0011800	Midface retrusion	2/2	OMIM:300946
90121	TSR2	HP:0040276	Adenocarcinoma of the colon	HP:0040284	ORPHA:124
90121	TSR2	HP:0011904	Persistence of hemoglobin F	HP:0040282	ORPHA:124
90121	TSR2	HP:0011904	Persistence of hemoglobin F	2/2	OMIM:300946
90121	TSR2	HP:0003577	Congenital onset	2/2	OMIM:300946
90121	TSR2	HP:0004808	Acute myeloid leukemia	HP:0040284	ORPHA:124
90121	TSR2	HP:0001087	Developmental glaucoma	HP:0040284	ORPHA:124
90121	TSR2	HP:0020118	Radial artery aplasia	HP:0040283	ORPHA:124
90121	TSR2	HP:0009777	Absent thumb	HP:0040283	ORPHA:124
90121	TSR2	HP:0009778	Short thumb	HP:0040283	ORPHA:124
90121	TSR2	HP:0005532	Macrocytic dyserythropoietic anemia	HP:0040282	ORPHA:124
90121	TSR2	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:124
90121	TSR2	HP:0005518	Increased mean corpuscular volume	2/2	OMIM:300946
90121	TSR2	HP:0001972	Macrocytic anemia	1/2	OMIM:300946
90121	TSR2	HP:0000653	Sparse eyelashes	2/2	OMIM:300946
90121	TSR2	HP:0004322	Short stature	HP:0040283	ORPHA:124
90121	TSR2	HP:0012741	Unilateral cryptorchidism	1/2	OMIM:300946
90121	TSR2	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:124
90121	TSR2	HP:0000912	Sprengel anomaly	HP:0040283	ORPHA:124
90121	TSR2	HP:0000980	Pallor	HP:0040282	ORPHA:124
90121	TSR2	HP:0000286	Epicanthus	HP:0040284	ORPHA:124
90121	TSR2	HP:0000294	Low anterior hairline	HP:0040284	ORPHA:124
90121	TSR2	HP:0002817	Abnormality of the upper limb	HP:0040283	ORPHA:124
90121	TSR2	HP:0000234	Abnormality of the head	HP:0040282	ORPHA:124
90121	TSR2	HP:0000252	Microcephaly	HP:0040284	ORPHA:124
90121	TSR2	HP:0000218	High palate	HP:0040283	ORPHA:124
90121	TSR2	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:124
90121	TSR2	HP:0001518	Small for gestational age	HP:0040282	ORPHA:124
90121	TSR2	HP:0001510	Growth delay	HP:0040282	ORPHA:124
90121	TSR2	HP:0000369	Low-set ears	HP:0040284	ORPHA:124
90121	TSR2	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:124
90121	TSR2	HP:0000347	Micrognathia	HP:0040284	ORPHA:124
90121	TSR2	HP:0000347	Micrognathia	2/2	OMIM:300946
90121	TSR2	HP:0000316	Hypertelorism	HP:0040284	ORPHA:124
90121	TSR2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:124
90121	TSR2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:124
90121	TSR2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:124
90121	TSR2	HP:0000405	Conductive hearing impairment	2/2	OMIM:300946
90121	TSR2	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:124
90121	TSR2	HP:0000486	Strabismus	HP:0040284	ORPHA:124
90121	TSR2	HP:0000494	Downslanted palpebral fissures	2/2	OMIM:300946
90121	TSR2	HP:0001790	Nonimmune hydrops fetalis	HP:0040284	ORPHA:124
90121	TSR2	HP:0000470	Short neck	HP:0040283	ORPHA:124
90121	TSR2	HP:0000465	Webbed neck	HP:0040283	ORPHA:124
90121	TSR2	HP:0030270	Elevated red cell adenosine deaminase activity	HP:0040281	ORPHA:124
90121	TSR2	HP:0030270	Elevated red cell adenosine deaminase activity	-	OMIM:300946
90121	TSR2	HP:0012410	Pure red cell aplasia	HP:0040281	ORPHA:124
90121	TSR2	HP:0000413	Atresia of the external auditory canal	1/2	OMIM:300946
90121	TSR2	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:124
90121	TSR2	HP:0006758	Malignant genitourinary tract tumor	HP:0040284	ORPHA:124
90121	TSR2	HP:0000519	Developmental cataract	HP:0040284	ORPHA:124
90121	TSR2	HP:0000508	Ptosis	HP:0040284	ORPHA:124
90121	TSR2	HP:0001894	Thrombocytosis	HP:0040284	ORPHA:124
90121	TSR2	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:124
90121	TSR2	HP:0001895	Normochromic anemia	HP:0040283	ORPHA:124
90121	TSR2	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:124
90121	TSR2	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:124
90121	TSR2	HP:0001875	Decreased total neutrophil count	HP:0040284	ORPHA:124
90161	HS6ST2	HP:0002465	Poor speech	2/2	OMIM:301025
90161	HS6ST2	HP:0008551	Microtia	2/2	OMIM:301025
90161	HS6ST2	HP:0001263	Global developmental delay	2/2	OMIM:301025
90161	HS6ST2	HP:0000020	Urinary incontinence	2/2	OMIM:301025
90161	HS6ST2	HP:0001419	X-linked recessive inheritance	-	OMIM:301025
90161	HS6ST2	HP:0002714	Downturned corners of mouth	2/2	OMIM:301025
90161	HS6ST2	HP:0003348	Hyperalaninemia	2/2	OMIM:301025
90161	HS6ST2	HP:0002003	Large forehead	2/2	OMIM:301025
90161	HS6ST2	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:301025
90161	HS6ST2	HP:0011968	Feeding difficulties	2/2	OMIM:301025
90161	HS6ST2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2/2	OMIM:301025
90161	HS6ST2	HP:0006956	Lateral ventricle dilatation	2/2	OMIM:301025
90161	HS6ST2	HP:0031936	Delayed ability to walk	2/2	OMIM:301025
90161	HS6ST2	HP:0000750	Delayed speech and language development	2/2	OMIM:301025
90161	HS6ST2	HP:0011463	Childhood onset	2/2	OMIM:301025
90161	HS6ST2	HP:0000272	Malar flattening	2/2	OMIM:301025
90161	HS6ST2	HP:0032653	Elevated lactate:pyruvate ratio	1/2	OMIM:301025
90161	HS6ST2	HP:0000233	Thin vermilion border	2/2	OMIM:301025
90161	HS6ST2	HP:0000358	Posteriorly rotated ears	2/2	OMIM:301025
90161	HS6ST2	HP:0011003	High myopia	2/2	OMIM:301025
90161	HS6ST2	HP:0000369	Low-set ears	2/2	OMIM:301025
90161	HS6ST2	HP:0000341	Narrow forehead	2/2	OMIM:301025
90161	HS6ST2	HP:0000325	Triangular face	2/2	OMIM:301025
90161	HS6ST2	HP:0000303	Mandibular prognathia	2/2	OMIM:301025
90161	HS6ST2	HP:0000494	Downslanted palpebral fissures	2/2	OMIM:301025
90161	HS6ST2	HP:0000490	Deeply set eye	2/2	OMIM:301025
90167	FRMD7	HP:0012043	Pendular nystagmus	-	OMIM:310700
90167	FRMD7	HP:0007663	Reduced visual acuity	-	OMIM:310700
90167	FRMD7	HP:0001417	X-linked inheritance	-	OMIM:310700
90167	FRMD7	HP:0003593	Infantile onset	-	OMIM:310700
90167	FRMD7	HP:0032037	Mildly reduced visual acuity	-	OMIM:310700
90167	FRMD7	HP:0000666	Horizontal nystagmus	-	OMIM:310700
90167	FRMD7	HP:0006934	Congenital nystagmus	-	OMIM:310700
90268	OTULIN	HP:0032219	Increased proportion of CD4-positive T cells	2/2	OMIM:617099
90268	OTULIN	HP:0003829	Typified by incomplete penetrance	-	OMIM:619986
90268	OTULIN	HP:0001386	Joint swelling	3/3	OMIM:617099
90268	OTULIN	HP:0000007	Autosomal recessive inheritance	-	OMIM:617099
90268	OTULIN	HP:0000006	Autosomal dominant inheritance	-	OMIM:619986
90268	OTULIN	HP:0002633	Vasculitis	1/3	OMIM:617099
90268	OTULIN	HP:0025452	Pyoderma gangrenosum	-	OMIM:619986
90268	OTULIN	HP:0031292	Cutaneous abscess	-	OMIM:619986
90268	OTULIN	HP:0002716	Lymphadenopathy	2/3	OMIM:617099
90268	OTULIN	HP:0002721	Immunodeficiency	-	OMIM:619986
90268	OTULIN	HP:0002027	Abdominal pain	1/3	OMIM:617099
90268	OTULIN	HP:0002028	Chronic diarrhea	1/3	OMIM:617099
90268	OTULIN	HP:0003326	Myalgia	2/3	OMIM:617099
90268	OTULIN	HP:0002014	Diarrhea	3/3	OMIM:617099
90268	OTULIN	HP:0003496	Increased circulating IgM level	3/3	OMIM:617099
90268	OTULIN	HP:0011897	Increased total neutrophil count	3/3	OMIM:617099
90268	OTULIN	HP:0003593	Infantile onset	3/3	OMIM:617099
90268	OTULIN	HP:0003621	Juvenile onset	-	OMIM:619986
90268	OTULIN	HP:0001974	Increased total leukocyte count	3/3	OMIM:617099
90268	OTULIN	HP:0001954	Recurrent fever	3/3	OMIM:617099
90268	OTULIN	HP:0009125	Lipodystrophy	3/3	OMIM:617099
90268	OTULIN	HP:0003261	Increased circulating IgA concentration	3/3	OMIM:617099
90268	OTULIN	HP:0000988	Skin rash	3/3	OMIM:617099
90268	OTULIN	HP:0002829	Arthralgia	3/3	OMIM:617099
90268	OTULIN	HP:0001531	Failure to thrive in infancy	3/3	OMIM:617099
90268	OTULIN	HP:0012490	Panniculitis	6/6	OMIM:617099
90268	OTULIN	HP:0011132	Chronic furunculosis	-	OMIM:619986
90268	OTULIN	HP:0011227	Elevated circulating C-reactive protein concentration	3/3	OMIM:617099
90411	MCFD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613625
90411	MCFD2	HP:0006298	Prolonged bleeding after dental extraction	HP:0040282	ORPHA:35909
90411	MCFD2	HP:0000132	Menorrhagia	HP:0040283	ORPHA:35909
90411	MCFD2	HP:0000132	Menorrhagia	-	OMIM:613625
90411	MCFD2	HP:0008151	Prolonged prothrombin time	HP:0040281	ORPHA:35909
90411	MCFD2	HP:0002149	Hyperuricemia	HP:0040284	ORPHA:35909
90411	MCFD2	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:35909
90411	MCFD2	HP:0011889	Bleeding with minor or no trauma	HP:0040282	ORPHA:35909
90411	MCFD2	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:35909
90411	MCFD2	HP:0004846	Prolonged bleeding after surgery	HP:0040283	ORPHA:35909
90411	MCFD2	HP:0003645	Prolonged partial thromboplastin time	HP:0040281	ORPHA:35909
90411	MCFD2	HP:0001934	Persistent bleeding after trauma	-	OMIM:613625
90411	MCFD2	HP:0003077	Hyperlipidemia	HP:0040284	ORPHA:35909
90411	MCFD2	HP:0000790	Hematuria	HP:0040283	ORPHA:35909
90411	MCFD2	HP:0003125	Reduced factor VIII activity	HP:0040281	ORPHA:35909
90411	MCFD2	HP:0003125	Reduced factor VIII activity	-	OMIM:613625
90411	MCFD2	HP:0003225	Reduced coagulation factor V activity	-	OMIM:613625
90411	MCFD2	HP:0003225	Reduced coagulation factor V activity	HP:0040281	ORPHA:35909
90411	MCFD2	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:35909
90411	MCFD2	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:35909
90411	MCFD2	HP:0005261	Joint hemorrhage	HP:0040283	ORPHA:35909
90411	MCFD2	HP:0030137	Prolonged bleeding following circumcision	HP:0040282	ORPHA:35909
90411	MCFD2	HP:0000421	Epistaxis	-	OMIM:613625
90411	MCFD2	HP:0000421	Epistaxis	HP:0040282	ORPHA:35909
90416	CCDC32	HP:0001156	Brachydactyly	1/2	OMIM:619123
90416	CCDC32	HP:0001263	Global developmental delay	2/2	OMIM:619123
90416	CCDC32	HP:0000028	Cryptorchidism	1/1	OMIM:619123
90416	CCDC32	HP:0008872	Feeding difficulties in infancy	2/2	OMIM:619123
90416	CCDC32	HP:0007477	Abnormal dermatoglyphics	1/2	OMIM:619123
90416	CCDC32	HP:0000007	Autosomal recessive inheritance	-	OMIM:619123
90416	CCDC32	HP:0001320	Cerebellar vermis hypoplasia	1/1	OMIM:619123
90416	CCDC32	HP:0000175	Cleft palate	2/2	OMIM:619123
90416	CCDC32	HP:0410030	Cleft lip	2/2	OMIM:619123
90416	CCDC32	HP:0003363	Abdominal situs inversus	1/2	OMIM:619123
90416	CCDC32	HP:0003577	Congenital onset	2/2	OMIM:619123
90416	CCDC32	HP:0008386	Aplasia/Hypoplasia of the nails	1/2	OMIM:619123
90416	CCDC32	HP:0004209	Clinodactyly of the 5th finger	2/2	OMIM:619123
90416	CCDC32	HP:0000601	Hypotelorism	1/2	OMIM:619123
90416	CCDC32	HP:0002808	Kyphosis	1/2	OMIM:619123
90416	CCDC32	HP:0000252	Microcephaly	2/2	OMIM:619123
90416	CCDC32	HP:0012385	Camptodactyly	1/2	OMIM:619123
90416	CCDC32	HP:0000347	Micrognathia	1/2	OMIM:619123
90416	CCDC32	HP:0000316	Hypertelorism	1/2	OMIM:619123
90416	CCDC32	HP:0001642	Pulmonic stenosis	1/2	OMIM:619123
90416	CCDC32	HP:0001629	Ventricular septal defect	1/2	OMIM:619123
90416	CCDC32	HP:0006695	Atrioventricular canal defect	1/2	OMIM:619123
90416	CCDC32	HP:0001746	Asplenia	1/2	OMIM:619123
90416	CCDC32	HP:0000411	Protruding ear	2/2	OMIM:619123
90416	CCDC32	HP:0000582	Upslanted palpebral fissure	1/2	OMIM:619123
90417	KNSTRN	HP:0003765	Psoriasiform dermatitis	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0009891	Underdeveloped supraorbital ridges	-	OMIM:613328
90417	KNSTRN	HP:0002403	Positive Romberg sign	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0032218	Decreased proportion of CD4-positive T cells	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0001251	Ataxia	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0001249	Intellectual disability	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0001263	Global developmental delay	-	OMIM:613328
90417	KNSTRN	HP:0001263	Global developmental delay	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0010976	Decreased total B cell count	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0031014	Arteria lusoria	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0000086	Ectopic kidney	-	OMIM:613328
90417	KNSTRN	HP:0001369	Arthritis	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0001369	Arthritis	-	OMIM:613328
90417	KNSTRN	HP:0000010	Recurrent urinary tract infections	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0000007	Autosomal recessive inheritance	-	OMIM:613328
90417	KNSTRN	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0007678	Lacrimal duct stenosis	-	OMIM:613328
90417	KNSTRN	HP:0007678	Lacrimal duct stenosis	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0410018	Recurrent ear infections	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0002718	Recurrent bacterial infections	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0002014	Diarrhea	HP:0040283	ORPHA:221139
90417	KNSTRN	HP:0002007	Frontal bossing	HP:0040283	ORPHA:221139
90417	KNSTRN	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0100540	Palpebral edema	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0002080	Intention tremor	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0002090	Pneumonia	-	OMIM:613328
90417	KNSTRN	HP:0002058	Myopathic facies	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0040288	Nasogastric tube feeding	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0002123	Generalized myoclonic seizure	-	OMIM:613328
90417	KNSTRN	HP:0002119	Ventriculomegaly	-	OMIM:613328
90417	KNSTRN	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0003460	Decreased circulating total IgA	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0002100	Recurrent aspiration pneumonia	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0010579	Cone-shaped epiphysis	-	OMIM:613328
90417	KNSTRN	HP:0009650	Short distal phalanx of the thumb	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0100660	Dyskinesia	-	OMIM:613328
90417	KNSTRN	HP:0009844	Broad middle phalanx of finger	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0032132	Decreased circulating total IgG concentration	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0032140	Decreased specific antibody response to vaccination	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0010750	Dermatochalasis	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0010743	Short metatarsal	-	OMIM:613328
90417	KNSTRN	HP:0009098	Chronic oral candidiasis	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0000648	Optic atrophy	-	OMIM:613328
90417	KNSTRN	HP:0000609	Optic nerve hypoplasia	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0010049	Short metacarpal	-	OMIM:613328
90417	KNSTRN	HP:0001999	Abnormal facial shape	-	OMIM:613328
90417	KNSTRN	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0004429	Recurrent viral infections	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0004425	Flat forehead	HP:0040283	ORPHA:221139
90417	KNSTRN	HP:0000924	Abnormality of the skeletal system	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0040025	Clinodactyly of the 4th finger	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0010282	Thin lower lip vermilion	-	OMIM:613328
90417	KNSTRN	HP:0010282	Thin lower lip vermilion	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0040022	Clinodactyly of the 2nd finger	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0040024	Clinodactyly of the 3rd finger	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0040218	Reduced total natural killer cell count	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0000998	Hypertrichosis	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0000953	Hyperpigmentation of the skin	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0000938	Osteopenia	-	OMIM:613328
90417	KNSTRN	HP:0000938	Osteopenia	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0025540	Abnormal T cell subset distribution	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0001537	Umbilical hernia	-	OMIM:613328
90417	KNSTRN	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0002850	Decreased circulating total IgM	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0031381	Decreased mitogen-induced T-cell proliferation	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0031382	Decreased anti-CD3/28-induced T-cell proliferation	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0002841	Recurrent fungal infections	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0000348	High forehead	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0000316	Hypertelorism	-	OMIM:613328
90417	KNSTRN	HP:0000316	Hypertelorism	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0000306	Abnormality of the chin	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0006610	Wide intermamillary distance	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0005387	Combined immunodeficiency	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0005280	Depressed nasal bridge	-	OMIM:613328
90417	KNSTRN	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0000490	Deeply set eye	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0000463	Anteverted nares	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0000470	Short neck	-	OMIM:613328
90417	KNSTRN	HP:0000411	Protruding ear	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0000431	Wide nasal bridge	-	OMIM:613328
90417	KNSTRN	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:221139
90417	KNSTRN	HP:0001761	Pes cavus	HP:0040282	ORPHA:221139
90459	ERI1	HP:0001156	Brachydactyly	1/1	OMIM:620663
90459	ERI1	HP:0001156	Brachydactyly	2/2	OMIM:620662
90459	ERI1	HP:0001159	Syndactyly	5/5	OMIM:620663
90459	ERI1	HP:0001159	Syndactyly	1/1	OMIM:620662
90459	ERI1	HP:0009909	Uplifted earlobe	1/3	OMIM:620662
90459	ERI1	HP:0009890	High anterior hairline	1/2	OMIM:620662
90459	ERI1	HP:0009882	Short distal phalanx of finger	1/1	OMIM:620662
90459	ERI1	HP:0008551	Microtia	2/2	OMIM:620663
90459	ERI1	HP:0001290	Generalized hypotonia	1/1	OMIM:620663
90459	ERI1	HP:0001270	Motor delay	1/1	OMIM:620663
90459	ERI1	HP:0001249	Intellectual disability	0/2	OMIM:620663
90459	ERI1	HP:0001249	Intellectual disability	4/4	OMIM:620662
90459	ERI1	HP:0001263	Global developmental delay	3/3	OMIM:620662
90459	ERI1	HP:0002553	Highly arched eyebrow	1/1	OMIM:620662
90459	ERI1	HP:0006094	Finger joint hypermobility	2/2	OMIM:620663
90459	ERI1	HP:0000076	Vesicoureteral reflux	1/1	OMIM:620663
90459	ERI1	HP:0000076	Vesicoureteral reflux	1/1	OMIM:620662
90459	ERI1	HP:0001377	Limited elbow extension	2/2	OMIM:620663
90459	ERI1	HP:0000023	Inguinal hernia	1/1	OMIM:620662
90459	ERI1	HP:0008846	Severe intrauterine growth retardation	1/1	OMIM:620663
90459	ERI1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620663
90459	ERI1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620662
90459	ERI1	HP:0002650	Scoliosis	1/1	OMIM:620663
90459	ERI1	HP:0002650	Scoliosis	0/2	OMIM:620662
90459	ERI1	HP:0002645	Wormian bones	1/1	OMIM:620663
90459	ERI1	HP:0002645	Wormian bones	0/3	OMIM:620662
90459	ERI1	HP:6000891	Absent toe phalanx flexion crease	1/1	OMIM:620662
90459	ERI1	HP:0005019	Diaphyseal undertubulation	1/1	OMIM:620663
90459	ERI1	HP:0000126	Hydronephrosis	2/4	OMIM:620663
90459	ERI1	HP:0000126	Hydronephrosis	1/4	OMIM:620662
90459	ERI1	HP:0002750	Delayed skeletal maturation	1/1	OMIM:620663
90459	ERI1	HP:0002750	Delayed skeletal maturation	0/3	OMIM:620662
90459	ERI1	HP:0004689	Short fourth metatarsal	1/1	OMIM:620662
90459	ERI1	HP:0002007	Frontal bossing	1/1	OMIM:620663
90459	ERI1	HP:0002099	Asthma	2/2	OMIM:620663
90459	ERI1	HP:0002092	Pulmonary arterial hypertension	1/1	OMIM:620663
90459	ERI1	HP:0005930	Abnormal epiphysis morphology	1/3	OMIM:620662
90459	ERI1	HP:0009487	Ulnar deviation of the hand	1/1	OMIM:620663
90459	ERI1	HP:0003468	Abnormal vertebral morphology	0/1	OMIM:620662
90459	ERI1	HP:0009623	Proximal placement of thumb	1/1	OMIM:620663
90459	ERI1	HP:0004704	Short fifth metatarsal	1/1	OMIM:620662
90459	ERI1	HP:0003577	Congenital onset	3/5	OMIM:620663
90459	ERI1	HP:0003577	Congenital onset	4/5	OMIM:620662
90459	ERI1	HP:0010669	Hypoplasia of the zygomatic bone	2/2	OMIM:620663
90459	ERI1	HP:0009638	Short proximal phalanx of thumb	1/1	OMIM:620662
90459	ERI1	HP:0009826	Limb undergrowth	1/1	OMIM:620663
90459	ERI1	HP:0010760	Absent toe	1/5	OMIM:620663
90459	ERI1	HP:0004209	Clinodactyly of the 5th finger	2/2	OMIM:620663
90459	ERI1	HP:0004209	Clinodactyly of the 5th finger	1/1	OMIM:620662
90459	ERI1	HP:0004288	Pseudoepiphyses of hand bones	1/1	OMIM:620662
90459	ERI1	HP:0004279	Short palm	1/1	OMIM:620663
90459	ERI1	HP:0004227	Short distal phalanx of the 5th finger	1/1	OMIM:620662
90459	ERI1	HP:0010049	Short metacarpal	1/1	OMIM:620662
90459	ERI1	HP:0010047	Short 5th metacarpal	1/1	OMIM:620662
90459	ERI1	HP:0004322	Short stature	4/4	OMIM:620663
90459	ERI1	HP:0030674	Antenatal onset	2/5	OMIM:620663
90459	ERI1	HP:0003083	Dislocated radial head	2/2	OMIM:620663
90459	ERI1	HP:0000767	Pectus excavatum	1/2	OMIM:620663
90459	ERI1	HP:0000767	Pectus excavatum	0/2	OMIM:620662
90459	ERI1	HP:0000768	Pectus carinatum	1/1	OMIM:620663
90459	ERI1	HP:0000768	Pectus carinatum	0/3	OMIM:620662
90459	ERI1	HP:0000750	Delayed speech and language development	1/1	OMIM:620663
90459	ERI1	HP:0000750	Delayed speech and language development	1/1	OMIM:620662
90459	ERI1	HP:0000717	Autism	1/5	OMIM:620662
90459	ERI1	HP:0011463	Childhood onset	1/3	OMIM:620662
90459	ERI1	HP:0004425	Flat forehead	1/1	OMIM:620662
90459	ERI1	HP:0000926	Platyspondyly	1/1	OMIM:620663
90459	ERI1	HP:0000926	Platyspondyly	0/3	OMIM:620662
90459	ERI1	HP:0003184	Decreased hip abduction	1/1	OMIM:620663
90459	ERI1	HP:0040022	Clinodactyly of the 2nd finger	1/1	OMIM:620663
90459	ERI1	HP:0040024	Clinodactyly of the 3rd finger	1/1	OMIM:620663
90459	ERI1	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	1/1	OMIM:620662
90459	ERI1	HP:0004570	Increased vertebral height	1/1	OMIM:620663
90459	ERI1	HP:0004570	Increased vertebral height	0/3	OMIM:620662
90459	ERI1	HP:0000960	Sacral dimple	1/1	OMIM:620662
90459	ERI1	HP:0000938	Osteopenia	1/1	OMIM:620663
90459	ERI1	HP:0000938	Osteopenia	0/3	OMIM:620662
90459	ERI1	HP:0000944	Abnormal metaphysis morphology	0/4	OMIM:620662
90459	ERI1	HP:0008093	Short 4th toe	1/1	OMIM:620662
90459	ERI1	HP:0008079	Absent fifth metatarsal	1/1	OMIM:620662
90459	ERI1	HP:0009380	Finger aplasia	1/1	OMIM:620663
90459	ERI1	HP:0011682	Perimembranous ventricular septal defect	1/1	OMIM:620662
90459	ERI1	HP:0000286	Epicanthus	1/1	OMIM:620662
90459	ERI1	HP:0000294	Low anterior hairline	1/2	OMIM:620662
90459	ERI1	HP:0000268	Dolichocephaly	1/1	OMIM:620663
90459	ERI1	HP:0002827	Hip dislocation	2/2	OMIM:620663
90459	ERI1	HP:0002827	Hip dislocation	0/2	OMIM:620662
90459	ERI1	HP:0000243	Trigonocephaly	1/1	OMIM:620663
90459	ERI1	HP:0000248	Brachycephaly	1/1	OMIM:620662
90459	ERI1	HP:0000220	Velopharyngeal insufficiency	1/2	OMIM:620663
90459	ERI1	HP:0000218	High palate	1/1	OMIM:620663
90459	ERI1	HP:0000218	High palate	1/1	OMIM:620662
90459	ERI1	HP:0000378	Cupped ear	1/3	OMIM:620662
90459	ERI1	HP:0001611	Hypernasal speech	2/2	OMIM:620663
90459	ERI1	HP:0005180	Tricuspid regurgitation	1/1	OMIM:620663
90459	ERI1	HP:0000358	Posteriorly rotated ears	1/1	OMIM:620663
90459	ERI1	HP:0000358	Posteriorly rotated ears	1/1	OMIM:620662
90459	ERI1	HP:0000369	Low-set ears	3/3	OMIM:620663
90459	ERI1	HP:0000369	Low-set ears	1/5	OMIM:620662
90459	ERI1	HP:0000341	Narrow forehead	1/1	OMIM:620663
90459	ERI1	HP:0000341	Narrow forehead	1/1	OMIM:620662
90459	ERI1	HP:0002999	Patellar dislocation	1/1	OMIM:620663
90459	ERI1	HP:0002999	Patellar dislocation	0/2	OMIM:620662
90459	ERI1	HP:0000347	Micrognathia	1/1	OMIM:620663
90459	ERI1	HP:0000325	Triangular face	1/1	OMIM:620662
90459	ERI1	HP:0001629	Ventricular septal defect	1/1	OMIM:620663
90459	ERI1	HP:0000307	Pointed chin	1/1	OMIM:620662
90459	ERI1	HP:0001631	Atrial septal defect	1/1	OMIM:620663
90459	ERI1	HP:0001631	Atrial septal defect	1/1	OMIM:620662
90459	ERI1	HP:0000400	Macrotia	1/1	OMIM:620663
90459	ERI1	HP:0000483	Astigmatism	1/1	OMIM:620662
90459	ERI1	HP:0000486	Strabismus	1/1	OMIM:620662
90459	ERI1	HP:0000465	Webbed neck	1/1	OMIM:620662
90459	ERI1	HP:0001773	Short foot	1/1	OMIM:620663
90459	ERI1	HP:0001769	Broad foot	1/1	OMIM:620662
90459	ERI1	HP:0001763	Pes planus	2/2	OMIM:620663
90459	ERI1	HP:0000431	Wide nasal bridge	1/1	OMIM:620662
90459	ERI1	HP:0001849	Foot oligodactyly	2/4	OMIM:620662
90459	ERI1	HP:0001845	Overlapping toe	1/1	OMIM:620662
90459	ERI1	HP:0000520	Proptosis	2/2	OMIM:620663
90459	ERI1	HP:0000508	Ptosis	2/2	OMIM:620662
90459	ERI1	HP:0001804	Hypoplastic fingernail	2/2	OMIM:620662
90459	ERI1	HP:0001802	Absent toenail	0/5	OMIM:620663
90459	ERI1	HP:0001802	Absent toenail	1/4	OMIM:620662
90459	ERI1	HP:0001814	Deep-set nails	1/1	OMIM:620662
90459	ERI1	HP:0000582	Upslanted palpebral fissure	2/2	OMIM:620663
90459	ERI1	HP:0000545	Myopia	1/1	OMIM:620662
90522	YIF1B	HP:0002451	Limb dystonia	5/6	OMIM:619125
90522	YIF1B	HP:0001290	Generalized hypotonia	6/6	OMIM:619125
90522	YIF1B	HP:0001272	Cerebellar atrophy	1/6	OMIM:619125
90522	YIF1B	HP:0001250	Seizure	2/6	OMIM:619125
90522	YIF1B	HP:0001263	Global developmental delay	6/6	OMIM:619125
90522	YIF1B	HP:0001257	Spasticity	6/6	OMIM:619125
90522	YIF1B	HP:0002510	Spastic tetraplegia	1/6	OMIM:619125
90522	YIF1B	HP:0008872	Feeding difficulties in infancy	6/6	OMIM:619125
90522	YIF1B	HP:0000007	Autosomal recessive inheritance	-	OMIM:619125
90522	YIF1B	HP:0002650	Scoliosis	2/6	OMIM:619125
90522	YIF1B	HP:0008936	Axial hypotonia	4/6	OMIM:619125
90522	YIF1B	HP:0002079	Hypoplasia of the corpus callosum	1/6	OMIM:619125
90522	YIF1B	HP:0002059	Cerebral atrophy	1/6	OMIM:619125
90522	YIF1B	HP:0003429	CNS hypomyelination	1/6	OMIM:619125
90522	YIF1B	HP:0003593	Infantile onset	4/5	OMIM:619125
90522	YIF1B	HP:0003577	Congenital onset	1/5	OMIM:619125
90522	YIF1B	HP:0100704	Cerebral visual impairment	1/6	OMIM:619125
90522	YIF1B	HP:0100660	Dyskinesia	5/5	OMIM:619125
90522	YIF1B	HP:0000737	Irritability	6/6	OMIM:619125
90522	YIF1B	HP:0000750	Delayed speech and language development	6/6	OMIM:619125
90522	YIF1B	HP:0000252	Microcephaly	5/6	OMIM:619125
90522	YIF1B	HP:0001511	Intrauterine growth retardation	1/6	OMIM:619125
90522	YIF1B	HP:0032989	Delayed ability to roll over	5/6	OMIM:619125
90523	MLIP	HP:0003738	Exercise-induced myalgia	6/8	OMIM:620138
90523	MLIP	HP:0003701	Proximal muscle weakness	5/7	OMIM:620138
90523	MLIP	HP:0003713	Muscle fiber necrosis	2/2	OMIM:620138
90523	MLIP	HP:0003710	Exercise-induced muscle cramps	3/8	OMIM:620138
90523	MLIP	HP:0001270	Motor delay	1/1	OMIM:620138
90523	MLIP	HP:0000007	Autosomal recessive inheritance	-	OMIM:620138
90523	MLIP	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:620138
90523	MLIP	HP:0008994	Proximal muscle weakness in lower limbs	1/1	OMIM:620138
90523	MLIP	HP:0008959	Distal upper limb muscle weakness	1/1	OMIM:620138
90523	MLIP	HP:0008967	Exercise-induced muscle stiffness	1/7	OMIM:620138
90523	MLIP	HP:0003593	Infantile onset	1/7	OMIM:620138
90523	MLIP	HP:0003546	Exercise intolerance	1/1	OMIM:620138
90523	MLIP	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:620138
90523	MLIP	HP:0003687	Centrally nucleated skeletal muscle fibers	1/1	OMIM:620138
90523	MLIP	HP:0003621	Juvenile onset	1/7	OMIM:620138
90523	MLIP	HP:0009073	Progressive proximal muscle weakness	1/1	OMIM:620138
90523	MLIP	HP:0011463	Childhood onset	6/8	OMIM:620138
90523	MLIP	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:620138
90523	MLIP	HP:0003202	Skeletal muscle atrophy	1/1	OMIM:620138
90523	MLIP	HP:0003201	Rhabdomyolysis	5/8	OMIM:620138
90523	MLIP	HP:0003259	Elevated circulating creatinine concentration	7/7	OMIM:620138
90523	MLIP	HP:0100297	Increased endomysial connective tissue	1/1	OMIM:620138
90523	MLIP	HP:0002913	Myoglobinuria	0/1	OMIM:620138
90523	MLIP	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:620138
90624	LYRM7	HP:0002490	Increased CSF lactate	2/2	OMIM:615838
90624	LYRM7	HP:0001298	Encephalopathy	-	OMIM:615838
90624	LYRM7	HP:0001290	Generalized hypotonia	1/1	OMIM:615838
90624	LYRM7	HP:0001272	Cerebellar atrophy	0/7	OMIM:615838
90624	LYRM7	HP:0001288	Gait disturbance	6/6	OMIM:615838
90624	LYRM7	HP:0001285	Spastic tetraparesis	1/1	OMIM:615838
90624	LYRM7	HP:0001254	Lethargy	-	OMIM:615838
90624	LYRM7	HP:0001251	Ataxia	2/7	OMIM:615838
90624	LYRM7	HP:0001249	Intellectual disability	7/7	OMIM:615838
90624	LYRM7	HP:0001260	Dysarthria	3/7	OMIM:615838
90624	LYRM7	HP:0001263	Global developmental delay	7/7	OMIM:615838
90624	LYRM7	HP:0001257	Spasticity	6/6	OMIM:615838
90624	LYRM7	HP:0001259	Coma	1/1	OMIM:615838
90624	LYRM7	HP:0007366	Atrophy/Degeneration affecting the brainstem	0/7	OMIM:615838
90624	LYRM7	HP:0002518	Abnormal periventricular white matter morphology	7/7	OMIM:615838
90624	LYRM7	HP:0002505	Loss of ambulation	1/1	OMIM:615838
90624	LYRM7	HP:0003819	Death in childhood	1/1	OMIM:615838
90624	LYRM7	HP:0001348	Brisk reflexes	6/6	OMIM:615838
90624	LYRM7	HP:0033725	Thin corpus callosum	1/1	OMIM:615838
90624	LYRM7	HP:0001324	Muscle weakness	4/6	OMIM:615838
90624	LYRM7	HP:0000007	Autosomal recessive inheritance	-	OMIM:615838
90624	LYRM7	HP:0008936	Axial hypotonia	3/7	OMIM:615838
90624	LYRM7	HP:0002789	Tachypnea	1/1	OMIM:615838
90624	LYRM7	HP:0003348	Hyperalaninemia	2/7	OMIM:615838
90624	LYRM7	HP:0002059	Cerebral atrophy	2/7	OMIM:615838
90624	LYRM7	HP:0003487	Babinski sign	6/6	OMIM:615838
90624	LYRM7	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:615838
90624	LYRM7	HP:0011924	Decreased activity of mitochondrial complex III	3/6	OMIM:615838
90624	LYRM7	HP:0003593	Infantile onset	2/6	OMIM:615838
90624	LYRM7	HP:0002283	Global brain atrophy	1/1	OMIM:615838
90624	LYRM7	HP:0002376	Developmental regression	6/8	OMIM:615838
90624	LYRM7	HP:0003676	Progressive	-	OMIM:615838
90624	LYRM7	HP:0003678	Rapidly progressive	-	OMIM:615838
90624	LYRM7	HP:0003621	Juvenile onset	3/6	OMIM:615838
90624	LYRM7	HP:0000639	Nystagmus	3/7	OMIM:615838
90624	LYRM7	HP:0001903	Anemia	1/1	OMIM:615838
90624	LYRM7	HP:0012707	Elevated brain lactate level by MRS	3/4	OMIM:615838
90624	LYRM7	HP:0011463	Childhood onset	2/7	OMIM:615838
90624	LYRM7	HP:0003128	Lactic acidosis	1/1	OMIM:615838
90624	LYRM7	HP:0040081	Abnormal circulating creatine kinase concentration	0/4	OMIM:615838
90624	LYRM7	HP:0045045	Elevated circulating acylcarnitine concentration	0/3	OMIM:615838
90624	LYRM7	HP:0002878	Respiratory failure	1/1	OMIM:615838
90624	LYRM7	HP:0001508	Failure to thrive	-	OMIM:615838
90624	LYRM7	HP:0000508	Ptosis	2/7	OMIM:615838
90624	LYRM7	HP:0000505	Visual impairment	5/7	OMIM:615838
90624	LYRM7	HP:0000577	Exotropia	3/7	OMIM:615838
90624	LYRM7	HP:0000543	Optic disc pallor	5/7	OMIM:615838
90624	LYRM7	HP:0000544	External ophthalmoplegia	3/7	OMIM:615838
90665	TBL1Y	HP:0001450	Y-linked inheritance	-	OMIM:400047
90665	TBL1Y	HP:0000407	Sensorineural hearing impairment	-	OMIM:400047
90678	LRSAM1	HP:0002460	Distal muscle weakness	-	OMIM:614436
90678	LRSAM1	HP:0001284	Areflexia	-	OMIM:614436
90678	LRSAM1	HP:0001265	Hyporeflexia	-	OMIM:614436
90678	LRSAM1	HP:0003829	Typified by incomplete penetrance	-	OMIM:614436
90678	LRSAM1	HP:0000007	Autosomal recessive inheritance	20/20	OMIM:614436
90678	LRSAM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614436
90678	LRSAM1	HP:0003378	Axonal degeneration/regeneration	-	OMIM:614436
90678	LRSAM1	HP:0003376	Steppage gait	-	OMIM:614436
90678	LRSAM1	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:614436
90678	LRSAM1	HP:0002380	Fasciculations	-	OMIM:614436
90678	LRSAM1	HP:0003693	Distal amyotrophy	-	OMIM:614436
90678	LRSAM1	HP:0003677	Slowly progressive	-	OMIM:614436
90678	LRSAM1	HP:0006886	Impaired distal vibration sensation	-	OMIM:614436
90678	LRSAM1	HP:0009027	Foot dorsiflexor weakness	-	OMIM:614436
90678	LRSAM1	HP:0000764	Peripheral axonal degeneration	-	OMIM:614436
90678	LRSAM1	HP:0040078	Axonal degeneration	-	OMIM:614436
90678	LRSAM1	HP:0030051	Tip-toe gait	-	OMIM:614436
90678	LRSAM1	HP:0002936	Distal sensory impairment	-	OMIM:614436
90678	LRSAM1	HP:0001765	Hammertoe	HP:0040283	OMIM:614436
90678	LRSAM1	HP:0001761	Pes cavus	-	OMIM:614436
90952	ESAM	HP:0007229	Intracerebral periventricular calcifications	2/2	OMIM:620371
90952	ESAM	HP:0002421	Poor head control	4/4	OMIM:620371
90952	ESAM	HP:0001285	Spastic tetraparesis	4/4	OMIM:620371
90952	ESAM	HP:0001250	Seizure	4/4	OMIM:620371
90952	ESAM	HP:0001252	Hypotonia	9/9	OMIM:620371
90952	ESAM	HP:0001257	Spasticity	3/3	OMIM:620371
90952	ESAM	HP:0007371	Corpus callosum atrophy	1/1	OMIM:620371
90952	ESAM	HP:0007359	Focal-onset seizure	4/4	OMIM:620371
90952	ESAM	HP:0002540	Inability to walk	3/3	OMIM:620371
90952	ESAM	HP:0002553	Highly arched eyebrow	5/5	OMIM:620371
90952	ESAM	HP:0002521	Hypsarrhythmia	2/2	OMIM:620371
90952	ESAM	HP:0002514	Cerebral calcification	5/5	OMIM:620371
90952	ESAM	HP:0002509	Limb hypertonia	1/1	OMIM:620371
90952	ESAM	HP:0006094	Finger joint hypermobility	2/2	OMIM:620371
90952	ESAM	HP:0025336	Delayed ability to sit	5/5	OMIM:620371
90952	ESAM	HP:0001347	Hyperreflexia	1/1	OMIM:620371
90952	ESAM	HP:0000028	Cryptorchidism	1/1	OMIM:620371
90952	ESAM	HP:0001332	Dystonia	1/1	OMIM:620371
90952	ESAM	HP:0033725	Thin corpus callosum	9/12	OMIM:620371
90952	ESAM	HP:0001342	Cerebral hemorrhage	2/2	OMIM:620371
90952	ESAM	HP:0000007	Autosomal recessive inheritance	-	OMIM:620371
90952	ESAM	HP:0000189	Narrow palate	3/3	OMIM:620371
90952	ESAM	HP:0002779	Tracheomalacia	2/2	OMIM:620371
90952	ESAM	HP:0002089	Pulmonary hypoplasia	1/1	OMIM:620371
90952	ESAM	HP:0002093	Respiratory insufficiency	2/2	OMIM:620371
90952	ESAM	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:620371
90952	ESAM	HP:0002135	Basal ganglia calcification	1/1	OMIM:620371
90952	ESAM	HP:0002132	Porencephalic cyst	2/2	OMIM:620371
90952	ESAM	HP:0002126	Polymicrogyria	1/1	OMIM:620371
90952	ESAM	HP:0002181	Cerebral edema	1/1	OMIM:620371
90952	ESAM	HP:0002171	Gliosis	2/2	OMIM:620371
90952	ESAM	HP:0002170	Intracranial hemorrhage	10/10	OMIM:620371
90952	ESAM	HP:0100750	Atelectasis	1/1	OMIM:620371
90952	ESAM	HP:0011968	Feeding difficulties	3/3	OMIM:620371
90952	ESAM	HP:0007082	Dilated third ventricle	13/13	OMIM:620371
90952	ESAM	HP:0007052	Multifocal cerebral white matter abnormalities	1/1	OMIM:620371
90952	ESAM	HP:0002324	Hydranencephaly	1/1	OMIM:620371
90952	ESAM	HP:0010804	Tented upper lip vermilion	2/2	OMIM:620371
90952	ESAM	HP:0007109	Periventricular cysts	1/1	OMIM:620371
90952	ESAM	HP:0003623	Neonatal onset	6/13	OMIM:620371
90952	ESAM	HP:0004935	Pulmonary artery atresia	1/1	OMIM:620371
90952	ESAM	HP:0000639	Nystagmus	1/1	OMIM:620371
90952	ESAM	HP:0000631	Retinal arterial tortuosity	2/2	OMIM:620371
90952	ESAM	HP:0000646	Amblyopia	2/2	OMIM:620371
90952	ESAM	HP:0000612	Iris coloboma	1/1	OMIM:620371
90952	ESAM	HP:0011344	Severe global developmental delay	9/9	OMIM:620371
90952	ESAM	HP:0000664	Synophrys	1/1	OMIM:620371
90952	ESAM	HP:0004325	Decreased body weight	4/4	OMIM:620371
90952	ESAM	HP:0004322	Short stature	3/3	OMIM:620371
90952	ESAM	HP:0006970	Periventricular leukomalacia	3/3	OMIM:620371
90952	ESAM	HP:0006956	Lateral ventricle dilatation	13/13	OMIM:620371
90952	ESAM	HP:0030674	Antenatal onset	3/13	OMIM:620371
90952	ESAM	HP:0034197	Third trimester onset	2/13	OMIM:620371
90952	ESAM	HP:0034198	Second trimester onset	2/13	OMIM:620371
90952	ESAM	HP:0011400	Abnormal CNS myelination	6/6	OMIM:620371
90952	ESAM	HP:0000767	Pectus excavatum	2/2	OMIM:620371
90952	ESAM	HP:0000750	Delayed speech and language development	9/9	OMIM:620371
90952	ESAM	HP:0034295	Reduced cerebral white matter volume	1/1	OMIM:620371
90952	ESAM	HP:0000293	Full cheeks	1/1	OMIM:620371
90952	ESAM	HP:0000238	Hydrocephalus	10/12	OMIM:620371
90952	ESAM	HP:0000252	Microcephaly	4/11	OMIM:620371
90952	ESAM	HP:0000218	High palate	3/3	OMIM:620371
90952	ESAM	HP:0000232	Everted lower lip vermilion	2/2	OMIM:620371
90952	ESAM	HP:0030048	Colpocephaly	1/1	OMIM:620371
90952	ESAM	HP:0001518	Small for gestational age	1/1	OMIM:620371
90952	ESAM	HP:0035006	Hepatic sinusoidal dilatation	1/1	OMIM:620371
90952	ESAM	HP:0005180	Tricuspid regurgitation	1/1	OMIM:620371
90952	ESAM	HP:0000358	Posteriorly rotated ears	1/1	OMIM:620371
90952	ESAM	HP:0000341	Narrow forehead	6/6	OMIM:620371
90952	ESAM	HP:0000337	Broad forehead	1/1	OMIM:620371
90952	ESAM	HP:0000319	Smooth philtrum	3/3	OMIM:620371
90952	ESAM	HP:0000325	Triangular face	2/2	OMIM:620371
90952	ESAM	HP:0001655	Patent foramen ovale	1/1	OMIM:620371
90952	ESAM	HP:0001640	Cardiomegaly	1/1	OMIM:620371
90952	ESAM	HP:0000308	Microretrognathia	3/3	OMIM:620371
90952	ESAM	HP:0000303	Mandibular prognathia	2/2	OMIM:620371
90952	ESAM	HP:0007902	Vitreous hemorrhage	1/1	OMIM:620371
90952	ESAM	HP:0001733	Pancreatitis	1/1	OMIM:620371
90952	ESAM	HP:0000476	Cystic hygroma	1/1	OMIM:620371
90952	ESAM	HP:0000463	Anteverted nares	1/1	OMIM:620371
90952	ESAM	HP:0012447	Abnormal myelination	0/6	OMIM:620371
90952	ESAM	HP:0001789	Hydrops fetalis	1/1	OMIM:620371
90952	ESAM	HP:0001765	Hammertoe	3/3	OMIM:620371
90952	ESAM	HP:0000414	Bulbous nose	5/5	OMIM:620371
90952	ESAM	HP:0030283	Partial absence of the septum pellucidum	1/1	OMIM:620371
90952	ESAM	HP:0001762	Talipes equinovarus	3/3	OMIM:620371
90952	ESAM	HP:0000431	Wide nasal bridge	3/3	OMIM:620371
90952	ESAM	HP:0030423	Splenic cyst	1/1	OMIM:620371
90952	ESAM	HP:0000527	Long eyelashes	4/4	OMIM:620371
90952	ESAM	HP:0000506	Telecanthus	2/2	OMIM:620371
90952	ESAM	HP:0000582	Upslanted palpebral fissure	3/3	OMIM:620371
90952	ESAM	HP:0000573	Retinal hemorrhage	2/2	OMIM:620371
90952	ESAM	HP:0000541	Retinal detachment	1/1	OMIM:620371
90993	CREB3L1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
90993	CREB3L1	HP:0001293	Cranial nerve compression	-	OMIM:131300
90993	CREB3L1	HP:0001256	Intellectual disability, mild	-	OMIM:259770
90993	CREB3L1	HP:0001252	Hypotonia	-	OMIM:259770
90993	CREB3L1	HP:0001252	Hypotonia	2/7	OMIM:615777
90993	CREB3L1	HP:0001249	Intellectual disability	5/7	OMIM:615777
90993	CREB3L1	HP:0001263	Global developmental delay	1/1	OMIM:612394
90993	CREB3L1	HP:0001263	Global developmental delay	-	OMIM:615777
90993	CREB3L1	HP:0002515	Waddling gait	54/102	OMIM:131300
90993	CREB3L1	HP:0003863	Angulated humerus	2/2	OMIM:616229
90993	CREB3L1	HP:0001382	Joint hypermobility	1/1	OMIM:616229
90993	CREB3L1	HP:0001382	Joint hypermobility	-	OMIM:259770
90993	CREB3L1	HP:0001382	Joint hypermobility	-	OMIM:615777
90993	CREB3L1	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
90993	CREB3L1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
90993	CREB3L1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
90993	CREB3L1	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
90993	CREB3L1	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
90993	CREB3L1	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
90993	CREB3L1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
90993	CREB3L1	HP:0001324	Muscle weakness	40/96	OMIM:131300
90993	CREB3L1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
90993	CREB3L1	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
90993	CREB3L1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616229
90993	CREB3L1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
90993	CREB3L1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
90993	CREB3L1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
90993	CREB3L1	HP:0002650	Scoliosis	1/5	OMIM:259770
90993	CREB3L1	HP:0002650	Scoliosis	1/1	OMIM:612394
90993	CREB3L1	HP:0002650	Scoliosis	12/14	OMIM:131300
90993	CREB3L1	HP:0002645	Wormian bones	1/1	OMIM:616229
90993	CREB3L1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
90993	CREB3L1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
90993	CREB3L1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
90993	CREB3L1	HP:0008905	Rhizomelia	2/2	OMIM:616229
90993	CREB3L1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
90993	CREB3L1	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
90993	CREB3L1	HP:0000175	Cleft palate	2/7	OMIM:615777
90993	CREB3L1	HP:0002757	Recurrent fractures	4/5	OMIM:259770
90993	CREB3L1	HP:0002757	Recurrent fractures	1/1	OMIM:616229
90993	CREB3L1	HP:0002756	Pathologic fracture	-	OMIM:259770
90993	CREB3L1	HP:0002756	Pathologic fracture	1/1	OMIM:612394
90993	CREB3L1	HP:0002751	Kyphoscoliosis	-	OMIM:259770
90993	CREB3L1	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
90993	CREB3L1	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
90993	CREB3L1	HP:0003388	Easy fatigability	36/76	OMIM:131300
90993	CREB3L1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
90993	CREB3L1	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
90993	CREB3L1	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
90993	CREB3L1	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
90993	CREB3L1	HP:0002164	Nail dysplasia	1/1	OMIM:612394
90993	CREB3L1	HP:0010557	Overlapping fingers	1/2	OMIM:612394
90993	CREB3L1	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
90993	CREB3L1	HP:0003593	Infantile onset	1/5	OMIM:259770
90993	CREB3L1	HP:0003577	Congenital onset	4/5	OMIM:259770
90993	CREB3L1	HP:0003577	Congenital onset	1/1	OMIM:616229
90993	CREB3L1	HP:0002208	Coarse hair	1/1	OMIM:612394
90993	CREB3L1	HP:0003510	Severe short stature	7/7	OMIM:615777
90993	CREB3L1	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
90993	CREB3L1	HP:0025019	Arterial rupture	1/1	OMIM:612394
90993	CREB3L1	HP:0002315	Headache	-	OMIM:131300
90993	CREB3L1	HP:0004976	Knee dislocation	6/7	OMIM:615777
90993	CREB3L1	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
90993	CREB3L1	HP:0009804	Tooth agenesis	1/1	OMIM:616229
90993	CREB3L1	HP:0009803	Short phalanx of finger	-	OMIM:615777
90993	CREB3L1	HP:0001089	Iris atrophy	-	OMIM:259770
90993	CREB3L1	HP:0009763	Limb pain	63/92	OMIM:131300
90993	CREB3L1	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
90993	CREB3L1	HP:0003621	Juvenile onset	-	OMIM:131300
90993	CREB3L1	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
90993	CREB3L1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
90993	CREB3L1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
90993	CREB3L1	HP:6001056	Out-toeing	-	OMIM:131300
90993	CREB3L1	HP:0000651	Diplopia	-	OMIM:131300
90993	CREB3L1	HP:0000618	Blindness	5/5	OMIM:259770
90993	CREB3L1	HP:0001956	Truncal obesity	2/7	OMIM:615777
90993	CREB3L1	HP:0001903	Anemia	HP:0040283	OMIM:131300
90993	CREB3L1	HP:0010049	Short metacarpal	-	OMIM:615777
90993	CREB3L1	HP:0000678	Dental crowding	-	OMIM:615777
90993	CREB3L1	HP:0000670	Carious teeth	-	OMIM:131300
90993	CREB3L1	HP:0011304	Broad thumb	2/7	OMIM:615777
90993	CREB3L1	HP:0000668	Hypodontia	-	OMIM:615777
90993	CREB3L1	HP:0000667	Phthisis bulbi	-	OMIM:259770
90993	CREB3L1	HP:0000664	Synophrys	-	OMIM:615777
90993	CREB3L1	HP:0004322	Short stature	-	OMIM:259770
90993	CREB3L1	HP:0004322	Short stature	1/1	OMIM:616229
90993	CREB3L1	HP:0004396	Poor appetite	-	OMIM:131300
90993	CREB3L1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
90993	CREB3L1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
90993	CREB3L1	HP:0034198	Second trimester onset	3/3	OMIM:616229
90993	CREB3L1	HP:0003016	Metaphyseal widening	-	OMIM:259770
90993	CREB3L1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
90993	CREB3L1	HP:0003010	Prolonged bleeding time	1/1	OMIM:616229
90993	CREB3L1	HP:0003026	Short long bone	1/1	OMIM:616229
90993	CREB3L1	HP:0003026	Short long bone	7/7	OMIM:615777
90993	CREB3L1	HP:0003027	Mesomelia	2/2	OMIM:616229
90993	CREB3L1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
90993	CREB3L1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
90993	CREB3L1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
90993	CREB3L1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
90993	CREB3L1	HP:0000750	Delayed speech and language development	-	OMIM:615777
90993	CREB3L1	HP:0011461	Fetal onset	7/7	OMIM:615777
90993	CREB3L1	HP:0011461	Fetal onset	2/2	OMIM:612394
90993	CREB3L1	HP:0000774	Narrow chest	1/1	OMIM:616229
90993	CREB3L1	HP:0000774	Narrow chest	2/7	OMIM:615777
90993	CREB3L1	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
90993	CREB3L1	HP:0003196	Short nose	1/1	OMIM:612394
90993	CREB3L1	HP:0000926	Platyspondyly	3/3	OMIM:616229
90993	CREB3L1	HP:0000926	Platyspondyly	-	OMIM:259770
90993	CREB3L1	HP:0000926	Platyspondyly	1/7	OMIM:615777
90993	CREB3L1	HP:0000926	Platyspondyly	1/1	OMIM:612394
90993	CREB3L1	HP:0003180	Flat acetabular roof	-	OMIM:615777
90993	CREB3L1	HP:0004482	Relative macrocephaly	-	OMIM:615777
90993	CREB3L1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
90993	CREB3L1	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
90993	CREB3L1	HP:0000823	Delayed puberty	-	OMIM:131300
90993	CREB3L1	HP:0000894	Short clavicles	-	OMIM:615777
90993	CREB3L1	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
90993	CREB3L1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
90993	CREB3L1	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
90993	CREB3L1	HP:0000978	Bruising susceptibility	1/1	OMIM:616229
90993	CREB3L1	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
90993	CREB3L1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
90993	CREB3L1	HP:0000939	Osteoporosis	4/5	OMIM:259770
90993	CREB3L1	HP:0000938	Osteopenia	-	OMIM:616229
90993	CREB3L1	HP:0000938	Osteopenia	1/5	OMIM:259770
90993	CREB3L1	HP:0000938	Osteopenia	1/1	OMIM:612394
90993	CREB3L1	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
90993	CREB3L1	HP:0000286	Epicanthus	1/7	OMIM:615777
90993	CREB3L1	HP:0000280	Coarse facial features	2/7	OMIM:615777
90993	CREB3L1	HP:0000272	Malar flattening	1/1	OMIM:612394
90993	CREB3L1	HP:0007773	Vitreoretinopathy	-	OMIM:259770
90993	CREB3L1	HP:0002827	Hip dislocation	3/7	OMIM:615777
90993	CREB3L1	HP:0002808	Kyphosis	1/5	OMIM:259770
90993	CREB3L1	HP:0000252	Microcephaly	-	OMIM:259770
90993	CREB3L1	HP:0000252	Microcephaly	-	OMIM:615777
90993	CREB3L1	HP:0001552	Barrel-shaped chest	-	OMIM:259770
90993	CREB3L1	HP:0002857	Genu valgum	-	OMIM:131300
90993	CREB3L1	HP:0001533	Slender build	-	OMIM:131300
90993	CREB3L1	HP:0001518	Small for gestational age	-	OMIM:616229
90993	CREB3L1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
90993	CREB3L1	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
90993	CREB3L1	HP:0007807	Optic nerve compression	-	OMIM:131300
90993	CREB3L1	HP:0012368	Flat face	7/7	OMIM:615777
90993	CREB3L1	HP:0012368	Flat face	1/1	OMIM:612394
90993	CREB3L1	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
90993	CREB3L1	HP:0007875	Congenital blindness	4/5	OMIM:259770
90993	CREB3L1	HP:0007862	Retinal calcification	1/5	OMIM:259770
90993	CREB3L1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
90993	CREB3L1	HP:0006487	Bowing of the long bones	1/1	OMIM:616229
90993	CREB3L1	HP:0000365	Hearing impairment	0/1	OMIM:616229
90993	CREB3L1	HP:0000365	Hearing impairment	10/67	OMIM:131300
90993	CREB3L1	HP:0000369	Low-set ears	2/2	OMIM:612394
90993	CREB3L1	HP:0000343	Long philtrum	1/7	OMIM:615777
90993	CREB3L1	HP:0011001	Increased bone mineral density	-	OMIM:131300
90993	CREB3L1	HP:0002982	Tibial bowing	1/5	OMIM:259770
90993	CREB3L1	HP:0000311	Round face	2/7	OMIM:615777
90993	CREB3L1	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
90993	CREB3L1	HP:0001629	Ventricular septal defect	-	OMIM:259770
90993	CREB3L1	HP:0002953	Vertebral compression fracture	1/1	OMIM:616229
90993	CREB3L1	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
90993	CREB3L1	HP:0002970	Genu varum	-	OMIM:615777
90993	CREB3L1	HP:0000308	Microretrognathia	1/1	OMIM:616229
90993	CREB3L1	HP:0000307	Pointed chin	1/2	OMIM:612394
90993	CREB3L1	HP:0000303	Mandibular prognathia	-	OMIM:131300
90993	CREB3L1	HP:0006640	Multiple rib fractures	1/1	OMIM:616229
90993	CREB3L1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
90993	CREB3L1	HP:0000405	Conductive hearing impairment	-	OMIM:616229
90993	CREB3L1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
90993	CREB3L1	HP:0000463	Anteverted nares	1/1	OMIM:612394
90993	CREB3L1	HP:0000470	Short neck	1/7	OMIM:615777
90993	CREB3L1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
90993	CREB3L1	HP:0001763	Pes planus	1/7	OMIM:615777
90993	CREB3L1	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
90993	CREB3L1	HP:0005474	Decreased calvarial ossification	3/3	OMIM:616229
90993	CREB3L1	HP:0000518	Cataract	1/5	OMIM:259770
90993	CREB3L1	HP:0000518	Cataract	1/1	OMIM:612394
90993	CREB3L1	HP:0001840	Metatarsus adductus	-	OMIM:615777
90993	CREB3L1	HP:0000520	Proptosis	2/4	OMIM:131300
90993	CREB3L1	HP:0000520	Proptosis	7/7	OMIM:615777
90993	CREB3L1	HP:0000592	Blue sclerae	1/1	OMIM:616229
90993	CREB3L1	HP:0000592	Blue sclerae	2/7	OMIM:615777
90993	CREB3L1	HP:0000586	Shallow orbits	1/1	OMIM:612394
90993	CREB3L1	HP:0000568	Microphthalmia	1/5	OMIM:259770
90993	CREB3L1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
90993	CREB3L1	HP:0012514	Lower limb pain	4/4	OMIM:131300
90993	CREB3L1	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
90993	CREB3L1	HP:0000545	Myopia	1/1	OMIM:612394
91039	DPP9	HP:0025175	Honeycomb lung	HP:0040282	ORPHA:2032
91039	DPP9	HP:0025179	Ground-glass opacification	HP:0040282	ORPHA:2032
91039	DPP9	HP:0007441	Hyperpigmented/hypopigmented macules	3/4	OMIM:620331
91039	DPP9	HP:0032341	Reduced forced vital capacity	HP:0040282	ORPHA:2032
91039	DPP9	HP:0000047	Hypospadias	1/4	OMIM:620331
91039	DPP9	HP:0000023	Inguinal hernia	2/4	OMIM:620331
91039	DPP9	HP:0001350	Slurred speech	2/4	OMIM:620331
91039	DPP9	HP:0000028	Cryptorchidism	1/4	OMIM:620331
91039	DPP9	HP:0025390	Reticular pattern on pulmonary HRCT	HP:0040282	ORPHA:2032
91039	DPP9	HP:0001328	Specific learning disability	3/4	OMIM:620331
91039	DPP9	HP:0000007	Autosomal recessive inheritance	-	OMIM:620331
91039	DPP9	HP:0002719	Recurrent infections	4/4	OMIM:620331
91039	DPP9	HP:0002721	Immunodeficiency	4/4	OMIM:620331
91039	DPP9	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2032
91039	DPP9	HP:0002099	Asthma	2/4	OMIM:620331
91039	DPP9	HP:0010444	Pulmonic regurgitation	HP:0040283	ORPHA:2032
91039	DPP9	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:2032
91039	DPP9	HP:0003593	Infantile onset	4/4	OMIM:620331
91039	DPP9	HP:0002216	Premature graying of hair	1/4	OMIM:620331
91039	DPP9	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:2032
91039	DPP9	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:2032
91039	DPP9	HP:0002286	Fair hair	2/4	OMIM:620331
91039	DPP9	HP:0100759	Clubbing of fingers	HP:0040282	ORPHA:2032
91039	DPP9	HP:0033367	Orthodeoxia	HP:0040283	ORPHA:2032
91039	DPP9	HP:0011968	Feeding difficulties	2/4	OMIM:620331
91039	DPP9	HP:0003508	Proportionate short stature	4/4	OMIM:620331
91039	DPP9	HP:0001058	Poor wound healing	1/4	OMIM:620331
91039	DPP9	HP:0001063	Acrocyanosis	HP:0040282	ORPHA:2032
91039	DPP9	HP:0001047	Atopic dermatitis	2/4	OMIM:620331
91039	DPP9	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/4	OMIM:620331
91039	DPP9	HP:0001072	Thickened skin	1/4	OMIM:620331
91039	DPP9	HP:0001954	Recurrent fever	4/4	OMIM:620331
91039	DPP9	HP:0001903	Anemia	4/4	OMIM:620331
91039	DPP9	HP:0031950	Usual interstitial pneumonia	HP:0040282	ORPHA:2032
91039	DPP9	HP:0012735	Cough	HP:0040282	ORPHA:2032
91039	DPP9	HP:0000750	Delayed speech and language development	3/4	OMIM:620331
91039	DPP9	HP:0000729	Autistic behavior	2/4	OMIM:620331
91039	DPP9	HP:0045051	Decreased DLCO	HP:0040282	ORPHA:2032
91039	DPP9	HP:0030830	Crackles	HP:0040282	ORPHA:2032
91039	DPP9	HP:0000958	Dry skin	1/4	OMIM:620331
91039	DPP9	HP:0000970	Anhidrosis	1/4	OMIM:620331
91039	DPP9	HP:0000964	Eczematoid dermatitis	2/4	OMIM:620331
91039	DPP9	HP:0000967	Petechiae	4/4	OMIM:620331
91039	DPP9	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:2032
91039	DPP9	HP:0001508	Failure to thrive	4/4	OMIM:620331
91039	DPP9	HP:0002837	Recurrent bronchitis	4/4	OMIM:620331
91039	DPP9	HP:0001511	Intrauterine growth retardation	2/4	OMIM:620331
91039	DPP9	HP:0012393	Allergy	2/4	OMIM:620331
91039	DPP9	HP:0012378	Fatigue	HP:0040282	ORPHA:2032
91039	DPP9	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040281	ORPHA:2032
91039	DPP9	HP:0002937	Hemivertebrae	2/2	OMIM:620331
91039	DPP9	HP:0000337	Broad forehead	1/4	OMIM:620331
91039	DPP9	HP:0031631	Subpleural honeycombing	HP:0040282	ORPHA:2032
91039	DPP9	HP:0005353	Recurrent herpes	4/4	OMIM:620331
91039	DPP9	HP:0000403	Recurrent otitis media	3/4	OMIM:620331
91039	DPP9	HP:0000494	Downslanted palpebral fissures	2/4	OMIM:620331
91039	DPP9	HP:0001876	Pancytopenia	4/4	OMIM:620331
91057	CCDC34	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
91057	CCDC34	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
91057	CCDC34	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
91057	CCDC34	HP:0000007	Autosomal recessive inheritance	-	OMIM:620084
91057	CCDC34	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
91057	CCDC34	HP:0032558	Absent sperm flagella	1/2	OMIM:620084
91057	CCDC34	HP:0032559	Short sperm flagella	2/2	OMIM:620084
91057	CCDC34	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
91057	CCDC34	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
91057	CCDC34	HP:0033393	Irregularly shaped sperm tail	1/2	OMIM:620084
91057	CCDC34	HP:0011462	Young adult onset	2/2	OMIM:620084
91057	CCDC34	HP:0000798	Oligozoospermia	2/2	OMIM:620084
91057	CCDC34	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
91057	CCDC34	HP:0003251	Male infertility	2/2	OMIM:620084
91057	CCDC34	HP:0012207	Reduced sperm motility	2/2	OMIM:620084
91137	SLC25A46	HP:0001182	Tapered finger	-	OMIM:616505
91137	SLC25A46	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
91137	SLC25A46	HP:0010851	EEG with burst suppression	1/4	OMIM:619303
91137	SLC25A46	HP:0001290	Generalized hypotonia	-	OMIM:616505
91137	SLC25A46	HP:0001276	Hypertonia	3/6	OMIM:616505
91137	SLC25A46	HP:0001272	Cerebellar atrophy	2/4	OMIM:619303
91137	SLC25A46	HP:0001272	Cerebellar atrophy	1/6	OMIM:616505
91137	SLC25A46	HP:0001270	Motor delay	HP:0040281	ORPHA:2254
91137	SLC25A46	HP:0001284	Areflexia	1/4	OMIM:619303
91137	SLC25A46	HP:0001284	Areflexia	1/6	OMIM:616505
91137	SLC25A46	HP:0001250	Seizure	HP:0040283	ORPHA:2254
91137	SLC25A46	HP:0001252	Hypotonia	-	OMIM:616505
91137	SLC25A46	HP:0001252	Hypotonia	HP:0040281	ORPHA:2254
91137	SLC25A46	HP:0001251	Ataxia	3/6	OMIM:616505
91137	SLC25A46	HP:0001251	Ataxia	HP:0040284	ORPHA:2254
91137	SLC25A46	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:2254
91137	SLC25A46	HP:0001265	Hyporeflexia	-	OMIM:616505
91137	SLC25A46	HP:0001263	Global developmental delay	3/6	OMIM:616505
91137	SLC25A46	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2254
91137	SLC25A46	HP:0001257	Spasticity	HP:0040283	ORPHA:2254
91137	SLC25A46	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:2254
91137	SLC25A46	HP:0003828	Variable expressivity	-	OMIM:616505
91137	SLC25A46	HP:0001371	Flexion contracture	-	OMIM:616505
91137	SLC25A46	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2254
91137	SLC25A46	HP:0001347	Hyperreflexia	1/6	OMIM:616505
91137	SLC25A46	HP:0033725	Thin corpus callosum	HP:0040283	ORPHA:2254
91137	SLC25A46	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2254
91137	SLC25A46	HP:0001324	Muscle weakness	-	OMIM:616505
91137	SLC25A46	HP:0000007	Autosomal recessive inheritance	-	OMIM:616505
91137	SLC25A46	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
91137	SLC25A46	HP:0000007	Autosomal recessive inheritance	-	OMIM:619303
91137	SLC25A46	HP:0001337	Tremor	-	OMIM:616505
91137	SLC25A46	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
91137	SLC25A46	HP:0001336	Myoclonus	2/4	OMIM:619303
91137	SLC25A46	HP:0001336	Myoclonus	-	OMIM:616505
91137	SLC25A46	HP:0001310	Dysmetria	1/6	OMIM:616505
91137	SLC25A46	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:2254
91137	SLC25A46	HP:0002650	Scoliosis	-	OMIM:616505
91137	SLC25A46	HP:0001321	Cerebellar hypoplasia	4/4	OMIM:619303
91137	SLC25A46	HP:0001319	Neonatal hypotonia	-	OMIM:619303
91137	SLC25A46	HP:0000189	Narrow palate	-	OMIM:616505
91137	SLC25A46	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
91137	SLC25A46	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
91137	SLC25A46	HP:0012110	Hypoplasia of the pons	HP:0040282	ORPHA:2254
91137	SLC25A46	HP:0012110	Hypoplasia of the pons	4/4	OMIM:619303
91137	SLC25A46	HP:0002080	Intention tremor	1/6	OMIM:616505
91137	SLC25A46	HP:0002066	Gait ataxia	1/6	OMIM:616505
91137	SLC25A46	HP:0003376	Steppage gait	-	OMIM:616505
91137	SLC25A46	HP:0003477	Peripheral axonal neuropathy	2/2	OMIM:616505
91137	SLC25A46	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:2254
91137	SLC25A46	HP:0003487	Babinski sign	1/6	OMIM:616505
91137	SLC25A46	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:2254
91137	SLC25A46	HP:0002135	Basal ganglia calcification	1/6	OMIM:616505
91137	SLC25A46	HP:0004886	Congenital laryngeal stridor	HP:0040283	ORPHA:2254
91137	SLC25A46	HP:0004887	Respiratory failure requiring assisted ventilation	4/4	OMIM:619303
91137	SLC25A46	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:2254
91137	SLC25A46	HP:0002398	Degeneration of anterior horn cells	HP:0040281	ORPHA:2254
91137	SLC25A46	HP:0003693	Distal amyotrophy	1/6	OMIM:616505
91137	SLC25A46	HP:0002350	Cerebellar cyst	HP:0040283	ORPHA:2254
91137	SLC25A46	HP:0010804	Tented upper lip vermilion	-	OMIM:616505
91137	SLC25A46	HP:0007141	Sensorimotor neuropathy	2/4	OMIM:619303
91137	SLC25A46	HP:0003621	Juvenile onset	8/19	OMIM:180100
91137	SLC25A46	HP:0000639	Nystagmus	1/6	OMIM:616505
91137	SLC25A46	HP:0000639	Nystagmus	HP:0040282	ORPHA:2254
91137	SLC25A46	HP:0000648	Optic atrophy	2/4	OMIM:619303
91137	SLC25A46	HP:0000648	Optic atrophy	HP:0040282	ORPHA:2254
91137	SLC25A46	HP:0000648	Optic atrophy	3/6	OMIM:616505
91137	SLC25A46	HP:0012698	Cerebellar gliosis	1/6	OMIM:616505
91137	SLC25A46	HP:0011344	Severe global developmental delay	4/4	OMIM:619303
91137	SLC25A46	HP:0000662	Nyctalopia	26/28	OMIM:180100
91137	SLC25A46	HP:0000750	Delayed speech and language development	1/6	OMIM:616505
91137	SLC25A46	HP:0011463	Childhood onset	3/19	OMIM:180100
91137	SLC25A46	HP:0011462	Young adult onset	8/19	OMIM:180100
91137	SLC25A46	HP:0003186	Inverted nipples	-	OMIM:616505
91137	SLC25A46	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:2254
91137	SLC25A46	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
91137	SLC25A46	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	ORPHA:2254
91137	SLC25A46	HP:0006380	Knee flexion contracture	1/4	OMIM:619303
91137	SLC25A46	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:2254
91137	SLC25A46	HP:0002878	Respiratory failure	HP:0040284	OMIM:616505
91137	SLC25A46	HP:0002878	Respiratory failure	HP:0040281	ORPHA:2254
91137	SLC25A46	HP:0001561	Polyhydramnios	3/4	OMIM:619303
91137	SLC25A46	HP:0001522	Death in infancy	4/4	OMIM:619303
91137	SLC25A46	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2254
91137	SLC25A46	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
91137	SLC25A46	HP:0002936	Distal sensory impairment	-	OMIM:616505
91137	SLC25A46	HP:0000341	Narrow forehead	-	OMIM:616505
91137	SLC25A46	HP:0002987	Elbow flexion contracture	1/4	OMIM:619303
91137	SLC25A46	HP:0000486	Strabismus	HP:0040283	ORPHA:2254
91137	SLC25A46	HP:0000463	Anteverted nares	-	OMIM:616505
91137	SLC25A46	HP:0000414	Bulbous nose	-	OMIM:616505
91137	SLC25A46	HP:0001761	Pes cavus	1/6	OMIM:616505
91137	SLC25A46	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
91137	SLC25A46	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:2254
91137	SLC25A46	HP:0000529	Progressive visual loss	-	OMIM:616505
91137	SLC25A46	HP:0000505	Visual impairment	3/6	OMIM:616505
91137	SLC25A46	HP:0000575	Scotoma	5/18	OMIM:180100
91137	SLC25A46	HP:0000575	Scotoma	1/6	OMIM:616505
91137	SLC25A46	HP:0000577	Exotropia	-	OMIM:616505
91137	SLC25A46	HP:0000565	Esotropia	HP:0040284	ORPHA:2254
91137	SLC25A46	HP:0000543	Optic disc pallor	1/1	OMIM:180100
91137	SLC25A46	HP:0000545	Myopia	-	OMIM:180100
91147	TMEM67	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:564
91147	TMEM67	HP:0001156	Brachydactyly	-	OMIM:602152
91147	TMEM67	HP:0001162	Postaxial hand polydactyly	1/12	OMIM:216360
91147	TMEM67	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:564
91147	TMEM67	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0001162	Postaxial hand polydactyly	-	OMIM:607361
91147	TMEM67	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
91147	TMEM67	HP:0100951	Enlarged fossa interpeduncularis	-	OMIM:610688
91147	TMEM67	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
91147	TMEM67	HP:0003774	Stage 5 chronic kidney disease	3/12	OMIM:216360
91147	TMEM67	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:84081
91147	TMEM67	HP:0003774	Stage 5 chronic kidney disease	7/7	OMIM:613550
91147	TMEM67	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:610688
91147	TMEM67	HP:0008659	Multiple small medullary renal cysts	-	OMIM:216360
91147	TMEM67	HP:0009916	Anisocoria	1/7	OMIM:613550
91147	TMEM67	HP:0002419	Molar tooth sign on MRI	10/12	OMIM:216360
91147	TMEM67	HP:0002419	Molar tooth sign on MRI	2/4	OMIM:610688
91147	TMEM67	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
91147	TMEM67	HP:0002404	Thickened superior cerebellar peduncle	2/5	OMIM:610688
91147	TMEM67	HP:0001293	Cranial nerve compression	-	OMIM:131300
91147	TMEM67	HP:0001290	Generalized hypotonia	-	OMIM:216360
91147	TMEM67	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
91147	TMEM67	HP:0001288	Gait disturbance	HP:0040282	ORPHA:1454
91147	TMEM67	HP:0001250	Seizure	HP:0040283	OMIM:216360
91147	TMEM67	HP:0001250	Seizure	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0001250	Seizure	HP:0040283	ORPHA:475
91147	TMEM67	HP:0001252	Hypotonia	10/12	OMIM:216360
91147	TMEM67	HP:0001252	Hypotonia	HP:0040281	ORPHA:1454
91147	TMEM67	HP:0001252	Hypotonia	2/2	OMIM:610688
91147	TMEM67	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
91147	TMEM67	HP:0001252	Hypotonia	2/7	OMIM:615777
91147	TMEM67	HP:0001251	Ataxia	2/5	OMIM:610688
91147	TMEM67	HP:0001251	Ataxia	8/12	OMIM:216360
91147	TMEM67	HP:0001251	Ataxia	HP:0040281	ORPHA:1454
91147	TMEM67	HP:0001251	Ataxia	HP:0040281	ORPHA:475
91147	TMEM67	HP:0001249	Intellectual disability	1/1	OMIM:615991
91147	TMEM67	HP:0001249	Intellectual disability	2/2	OMIM:610688
91147	TMEM67	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
91147	TMEM67	HP:0001249	Intellectual disability	5/7	OMIM:615777
91147	TMEM67	HP:0001263	Global developmental delay	12/12	OMIM:216360
91147	TMEM67	HP:0001263	Global developmental delay	1/1	OMIM:615991
91147	TMEM67	HP:0001263	Global developmental delay	2/2	OMIM:610688
91147	TMEM67	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
91147	TMEM67	HP:0001263	Global developmental delay	1/7	OMIM:613550
91147	TMEM67	HP:0001263	Global developmental delay	-	OMIM:615777
91147	TMEM67	HP:0001257	Spasticity	-	OMIM:216360
91147	TMEM67	HP:0100864	Short femoral neck	1/1	OMIM:602152
91147	TMEM67	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
91147	TMEM67	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:564
91147	TMEM67	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:1454
91147	TMEM67	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
91147	TMEM67	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0002515	Waddling gait	54/102	OMIM:131300
91147	TMEM67	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:84081
91147	TMEM67	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:84081
91147	TMEM67	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0000083	Renal insufficiency	-	OMIM:602152
91147	TMEM67	HP:0000083	Renal insufficiency	1/1	OMIM:615991
91147	TMEM67	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0000090	Nephronophthisis	7/7	OMIM:613550
91147	TMEM67	HP:0000090	Nephronophthisis	-	OMIM:610688
91147	TMEM67	HP:0000090	Nephronophthisis	1/1	OMIM:602152
91147	TMEM67	HP:0000090	Nephronophthisis	5/12	OMIM:216360
91147	TMEM67	HP:0000090	Nephronophthisis	HP:0040281	ORPHA:140976
91147	TMEM67	HP:0000092	Renal tubular atrophy	-	OMIM:613550
91147	TMEM67	HP:0001396	Cholestasis	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0000068	Urethral atresia	HP:0040283	ORPHA:564
91147	TMEM67	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:564
91147	TMEM67	HP:0001392	Abnormality of the liver	HP:0040281	ORPHA:140976
91147	TMEM67	HP:0001395	Hepatic fibrosis	10/12	OMIM:216360
91147	TMEM67	HP:0001395	Hepatic fibrosis	-	OMIM:607361
91147	TMEM67	HP:0001395	Hepatic fibrosis	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0001395	Hepatic fibrosis	7/7	OMIM:613550
91147	TMEM67	HP:0001395	Hepatic fibrosis	2/5	OMIM:610688
91147	TMEM67	HP:0001394	Cirrhosis	-	OMIM:216360
91147	TMEM67	HP:0001394	Cirrhosis	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0001394	Cirrhosis	HP:0040283	ORPHA:84081
91147	TMEM67	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:564
91147	TMEM67	HP:0000037	Male pseudohermaphroditism	HP:0040283	ORPHA:564
91147	TMEM67	HP:0001382	Joint hypermobility	-	OMIM:615777
91147	TMEM67	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0002684	Thickened calvaria	1/1	OMIM:602152
91147	TMEM67	HP:0001347	Hyperreflexia	5/12	OMIM:216360
91147	TMEM67	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1454
91147	TMEM67	HP:0002694	Sclerosis of skull base	-	OMIM:131300
91147	TMEM67	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:564
91147	TMEM67	HP:0008897	Postnatal growth retardation	-	OMIM:615777
91147	TMEM67	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
91147	TMEM67	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:1454
91147	TMEM67	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:140976
91147	TMEM67	HP:0001332	Dystonia	2/12	OMIM:216360
91147	TMEM67	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
91147	TMEM67	HP:0001324	Muscle weakness	40/96	OMIM:131300
91147	TMEM67	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
91147	TMEM67	HP:0000007	Autosomal recessive inheritance	-	OMIM:216360
91147	TMEM67	HP:0000007	Autosomal recessive inheritance	-	OMIM:615991
91147	TMEM67	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
91147	TMEM67	HP:0000007	Autosomal recessive inheritance	-	OMIM:607361
91147	TMEM67	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
91147	TMEM67	HP:0000007	Autosomal recessive inheritance	-	OMIM:602152
91147	TMEM67	HP:0000007	Autosomal recessive inheritance	-	OMIM:610688
91147	TMEM67	HP:0000007	Autosomal recessive inheritance	-	OMIM:613550
91147	TMEM67	HP:0000003	Multicystic kidney dysplasia	12/12	OMIM:607361
91147	TMEM67	HP:0000003	Multicystic kidney dysplasia	HP:0040281	ORPHA:564
91147	TMEM67	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:140976
91147	TMEM67	HP:0001337	Tremor	HP:0040283	ORPHA:475
91147	TMEM67	HP:0001337	Tremor	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
91147	TMEM67	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
91147	TMEM67	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:564
91147	TMEM67	HP:0001305	Dandy-Walker malformation	1/12	OMIM:607361
91147	TMEM67	HP:0002652	Skeletal dysplasia	-	OMIM:602152
91147	TMEM67	HP:0002652	Skeletal dysplasia	HP:0040282	ORPHA:140976
91147	TMEM67	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:216360
91147	TMEM67	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:1454
91147	TMEM67	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
91147	TMEM67	HP:0001320	Cerebellar vermis hypoplasia	5/5	OMIM:610688
91147	TMEM67	HP:0002650	Scoliosis	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
91147	TMEM67	HP:0002650	Scoliosis	12/14	OMIM:131300
91147	TMEM67	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
91147	TMEM67	HP:0002617	Vascular dilatation	-	OMIM:216360
91147	TMEM67	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:564
91147	TMEM67	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:1454
91147	TMEM67	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:84081
91147	TMEM67	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
91147	TMEM67	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
91147	TMEM67	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
91147	TMEM67	HP:0012163	Carotid artery dilatation	HP:0040283	ORPHA:84081
91147	TMEM67	HP:0000175	Cleft palate	HP:0040282	ORPHA:564
91147	TMEM67	HP:0000175	Cleft palate	HP:0040283	OMIM:607361
91147	TMEM67	HP:0000175	Cleft palate	2/7	OMIM:615777
91147	TMEM67	HP:0000154	Wide mouth	-	OMIM:216360
91147	TMEM67	HP:0032622	Tubular luminal dilatation	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
91147	TMEM67	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
91147	TMEM67	HP:0000122	Unilateral renal agenesis	1/12	OMIM:216360
91147	TMEM67	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
91147	TMEM67	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:1454
91147	TMEM67	HP:0000112	Nephropathy	HP:0040282	ORPHA:1454
91147	TMEM67	HP:0001438	Abnormal abdomen morphology	-	OMIM:216360
91147	TMEM67	HP:0000107	Renal cyst	1/12	OMIM:216360
91147	TMEM67	HP:0000108	Renal corticomedullary cysts	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0000108	Renal corticomedullary cysts	-	OMIM:613550
91147	TMEM67	HP:0000103	Polyuria	-	OMIM:613550
91147	TMEM67	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0001409	Portal hypertension	-	OMIM:216360
91147	TMEM67	HP:0001409	Portal hypertension	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0001409	Portal hypertension	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0001408	Bile duct proliferation	2/5	OMIM:610688
91147	TMEM67	HP:0001408	Bile duct proliferation	-	OMIM:607361
91147	TMEM67	HP:0002750	Delayed skeletal maturation	1/1	OMIM:602152
91147	TMEM67	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:140976
91147	TMEM67	HP:0032581	Abnormal renal insterstitial morphology	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
91147	TMEM67	HP:0005957	Breathing dysregulation	-	OMIM:610688
91147	TMEM67	HP:0002085	Occipital encephalocele	8/12	OMIM:607361
91147	TMEM67	HP:0002085	Occipital encephalocele	-	OMIM:216360
91147	TMEM67	HP:0002085	Occipital encephalocele	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
91147	TMEM67	HP:0002084	Encephalocele	2/12	OMIM:216360
91147	TMEM67	HP:0002084	Encephalocele	HP:0040281	ORPHA:564
91147	TMEM67	HP:0002040	Esophageal varix	3/12	OMIM:216360
91147	TMEM67	HP:0002040	Esophageal varix	HP:0040283	ORPHA:84081
91147	TMEM67	HP:0003388	Easy fatigability	36/76	OMIM:131300
91147	TMEM67	HP:0010442	Polydactyly	0/1	OMIM:615991
91147	TMEM67	HP:0010442	Polydactyly	-	OMIM:607361
91147	TMEM67	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
91147	TMEM67	HP:0033149	Intrahepatic bile duct dilatation	2/12	OMIM:216360
91147	TMEM67	HP:0010459	True hermaphroditism	HP:0040283	ORPHA:564
91147	TMEM67	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
91147	TMEM67	HP:0002104	Apnea	HP:0040281	ORPHA:1454
91147	TMEM67	HP:0002104	Apnea	HP:0040281	ORPHA:475
91147	TMEM67	HP:0011933	Elongated superior cerebellar peduncle	-	OMIM:610688
91147	TMEM67	HP:0002198	Dilated fourth ventricle	1/5	OMIM:610688
91147	TMEM67	HP:0008245	Pituitary hypothyroidism	-	OMIM:602152
91147	TMEM67	HP:0004719	Hyperechogenic kidneys	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0010585	Small epiphyses	HP:0040282	ORPHA:140976
91147	TMEM67	HP:0003593	Infantile onset	-	OMIM:216360
91147	TMEM67	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
91147	TMEM67	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0003577	Congenital onset	1/1	OMIM:602152
91147	TMEM67	HP:0003577	Congenital onset	12/12	OMIM:216360
91147	TMEM67	HP:0003573	Increased total bilirubin	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0002240	Hepatomegaly	2/5	OMIM:607361
91147	TMEM67	HP:0002240	Hepatomegaly	9/12	OMIM:216360
91147	TMEM67	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:1454
91147	TMEM67	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
91147	TMEM67	HP:0100732	Pancreatic fibrosis	HP:0040283	ORPHA:564
91147	TMEM67	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:84081
91147	TMEM67	HP:0003510	Severe short stature	7/7	OMIM:615777
91147	TMEM67	HP:0002365	Hypoplasia of the brainstem	2/5	OMIM:610688
91147	TMEM67	HP:0002342	Intellectual disability, moderate	11/12	OMIM:216360
91147	TMEM67	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:1454
91147	TMEM67	HP:0002323	Anencephaly	HP:0040283	ORPHA:564
91147	TMEM67	HP:0002315	Headache	-	OMIM:131300
91147	TMEM67	HP:0004976	Knee dislocation	6/7	OMIM:615777
91147	TMEM67	HP:0100626	Chronic hepatic failure	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0009803	Short phalanx of finger	-	OMIM:615777
91147	TMEM67	HP:0020132	Thickening of the tubular basement membrane	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0009763	Limb pain	63/92	OMIM:131300
91147	TMEM67	HP:0003621	Juvenile onset	8/19	OMIM:180100
91147	TMEM67	HP:0003621	Juvenile onset	-	OMIM:131300
91147	TMEM67	HP:0006870	Lobar holoprosencephaly	HP:0040282	ORPHA:564
91147	TMEM67	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
91147	TMEM67	HP:0006824	Cranial nerve paralysis	HP:0040282	ORPHA:140976
91147	TMEM67	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3/12	OMIM:216360
91147	TMEM67	HP:0005583	Tubular basement membrane disintegration	-	OMIM:613550
91147	TMEM67	HP:0006897	Abducens palsy	HP:0040282	ORPHA:140976
91147	TMEM67	HP:0005565	Reduced renal corticomedullary differentiation	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
91147	TMEM67	HP:0012622	Chronic kidney disease	-	OMIM:602152
91147	TMEM67	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0000639	Nystagmus	7/12	OMIM:216360
91147	TMEM67	HP:0000639	Nystagmus	HP:0040282	ORPHA:1454
91147	TMEM67	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
91147	TMEM67	HP:0000639	Nystagmus	1/7	OMIM:613550
91147	TMEM67	HP:0000639	Nystagmus	1/1	OMIM:615991
91147	TMEM67	HP:6001056	Out-toeing	-	OMIM:131300
91147	TMEM67	HP:0000651	Diplopia	-	OMIM:131300
91147	TMEM67	HP:0000648	Optic atrophy	HP:0040282	ORPHA:564
91147	TMEM67	HP:0000647	Sclerocornea	HP:0040282	ORPHA:564
91147	TMEM67	HP:0000618	Blindness	-	OMIM:610688
91147	TMEM67	HP:0000612	Iris coloboma	HP:0040282	ORPHA:1454
91147	TMEM67	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
91147	TMEM67	HP:0001959	Polydipsia	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0001959	Polydipsia	-	OMIM:613550
91147	TMEM67	HP:0001956	Truncal obesity	2/7	OMIM:615777
91147	TMEM67	HP:0001903	Anemia	HP:0040283	ORPHA:84081
91147	TMEM67	HP:0001903	Anemia	HP:0040283	OMIM:131300
91147	TMEM67	HP:0001903	Anemia	-	OMIM:613550
91147	TMEM67	HP:0010049	Short metacarpal	-	OMIM:615777
91147	TMEM67	HP:0000678	Dental crowding	-	OMIM:615777
91147	TMEM67	HP:0000662	Nyctalopia	26/28	OMIM:180100
91147	TMEM67	HP:0011314	Abnormal long bone morphology	HP:0040282	ORPHA:140976
91147	TMEM67	HP:0000657	Oculomotor apraxia	9/12	OMIM:216360
91147	TMEM67	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:1454
91147	TMEM67	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
91147	TMEM67	HP:0000657	Oculomotor apraxia	1/5	OMIM:610688
91147	TMEM67	HP:0000670	Carious teeth	-	OMIM:131300
91147	TMEM67	HP:0011304	Broad thumb	2/7	OMIM:615777
91147	TMEM67	HP:0000668	Hypodontia	-	OMIM:615777
91147	TMEM67	HP:0000664	Synophrys	-	OMIM:615777
91147	TMEM67	HP:0004322	Short stature	-	OMIM:602152
91147	TMEM67	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
91147	TMEM67	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:564
91147	TMEM67	HP:0004396	Poor appetite	-	OMIM:131300
91147	TMEM67	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
91147	TMEM67	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
91147	TMEM67	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
91147	TMEM67	HP:0003026	Short long bone	1/1	OMIM:602152
91147	TMEM67	HP:0003026	Short long bone	7/7	OMIM:615777
91147	TMEM67	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
91147	TMEM67	HP:0000767	Pectus excavatum	2/7	OMIM:615777
91147	TMEM67	HP:0000768	Pectus carinatum	1/7	OMIM:615777
91147	TMEM67	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
91147	TMEM67	HP:0000733	Motor stereotypy	1/2	OMIM:610688
91147	TMEM67	HP:0000750	Delayed speech and language development	-	OMIM:615777
91147	TMEM67	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:84081
91147	TMEM67	HP:0000713	Agitation	HP:0040283	ORPHA:84081
91147	TMEM67	HP:0011463	Childhood onset	3/19	OMIM:180100
91147	TMEM67	HP:0011462	Young adult onset	8/19	OMIM:180100
91147	TMEM67	HP:0011461	Fetal onset	7/7	OMIM:615777
91147	TMEM67	HP:0000774	Narrow chest	2/7	OMIM:615777
91147	TMEM67	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
91147	TMEM67	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:1454
91147	TMEM67	HP:0000924	Abnormality of the skeletal system	HP:0040281	ORPHA:140976
91147	TMEM67	HP:0000926	Platyspondyly	1/7	OMIM:615777
91147	TMEM67	HP:0003170	Abnormal acetabulum morphology	HP:0040282	ORPHA:140976
91147	TMEM67	HP:0003180	Flat acetabular roof	-	OMIM:615777
91147	TMEM67	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0004482	Relative macrocephaly	-	OMIM:615777
91147	TMEM67	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
91147	TMEM67	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
91147	TMEM67	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0000830	Anterior hypopituitarism	-	OMIM:602152
91147	TMEM67	HP:0000822	Hypertension	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0000822	Hypertension	-	OMIM:216360
91147	TMEM67	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:602152
91147	TMEM67	HP:0000823	Delayed puberty	-	OMIM:131300
91147	TMEM67	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040283	ORPHA:564
91147	TMEM67	HP:0040075	Hypopituitarism	HP:0040281	ORPHA:140976
91147	TMEM67	HP:0000894	Short clavicles	-	OMIM:615777
91147	TMEM67	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
91147	TMEM67	HP:0034323	Reduced circulating growth hormone concentration	1/1	OMIM:602152
91147	TMEM67	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
91147	TMEM67	HP:0000939	Osteoporosis	1/1	OMIM:602152
91147	TMEM67	HP:0000938	Osteopenia	1/1	OMIM:602152
91147	TMEM67	HP:0000938	Osteopenia	HP:0040282	ORPHA:140976
91147	TMEM67	HP:0000946	Hypoplastic ilia	HP:0040282	ORPHA:140976
91147	TMEM67	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040282	ORPHA:564
91147	TMEM67	HP:0000286	Epicanthus	1/7	OMIM:615777
91147	TMEM67	HP:0000280	Coarse facial features	2/7	OMIM:615777
91147	TMEM67	HP:0000293	Full cheeks	HP:0040282	ORPHA:564
91147	TMEM67	HP:0000256	Macrocephaly	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0000276	Long face	HP:0040282	ORPHA:475
91147	TMEM67	HP:0000276	Long face	HP:0040282	ORPHA:1454
91147	TMEM67	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
91147	TMEM67	HP:0002827	Hip dislocation	3/7	OMIM:615777
91147	TMEM67	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
91147	TMEM67	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:564
91147	TMEM67	HP:0000238	Hydrocephalus	HP:0040283	OMIM:607361
91147	TMEM67	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0000252	Microcephaly	HP:0040281	ORPHA:564
91147	TMEM67	HP:0000252	Microcephaly	-	OMIM:615777
91147	TMEM67	HP:0000221	Furrowed tongue	HP:0040283	ORPHA:564
91147	TMEM67	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
91147	TMEM67	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:564
91147	TMEM67	HP:0002857	Genu valgum	-	OMIM:131300
91147	TMEM67	HP:0001541	Ascites	HP:0040283	ORPHA:84081
91147	TMEM67	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
91147	TMEM67	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0001533	Slender build	-	OMIM:131300
91147	TMEM67	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
91147	TMEM67	HP:0001510	Growth delay	-	OMIM:613550
91147	TMEM67	HP:0001510	Growth delay	4/12	OMIM:216360
91147	TMEM67	HP:0001513	Obesity	1/1	OMIM:615991
91147	TMEM67	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
91147	TMEM67	HP:0007824	Total ophthalmoplegia	1/1	OMIM:602152
91147	TMEM67	HP:0007807	Optic nerve compression	-	OMIM:131300
91147	TMEM67	HP:0012368	Flat face	7/7	OMIM:615777
91147	TMEM67	HP:0006571	Reduced number of intrahepatic bile ducts	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0005248	Intrahepatic biliary atresia	HP:0040281	ORPHA:1454
91147	TMEM67	HP:0006563	Malformation of the hepatic ductal plate	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0006563	Malformation of the hepatic ductal plate	4/5	OMIM:607361
91147	TMEM67	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
91147	TMEM67	HP:0002910	Elevated circulating hepatic transaminase concentration	9/12	OMIM:216360
91147	TMEM67	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:1454
91147	TMEM67	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0006487	Bowing of the long bones	HP:0040283	ORPHA:564
91147	TMEM67	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
91147	TMEM67	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:564
91147	TMEM67	HP:0000365	Hearing impairment	10/67	OMIM:131300
91147	TMEM67	HP:0000365	Hearing impairment	HP:0040282	ORPHA:140976
91147	TMEM67	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:564
91147	TMEM67	HP:0000369	Low-set ears	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
91147	TMEM67	HP:0000340	Sloping forehead	HP:0040282	ORPHA:564
91147	TMEM67	HP:0000343	Long philtrum	1/7	OMIM:615777
91147	TMEM67	HP:0011001	Increased bone mineral density	-	OMIM:131300
91147	TMEM67	HP:0000347	Micrognathia	HP:0040282	ORPHA:564
91147	TMEM67	HP:0000316	Hypertelorism	HP:0040282	ORPHA:564
91147	TMEM67	HP:0000316	Hypertelorism	-	OMIM:216360
91147	TMEM67	HP:0000311	Round face	-	OMIM:216360
91147	TMEM67	HP:0000311	Round face	2/7	OMIM:615777
91147	TMEM67	HP:0002986	Radial bowing	1/1	OMIM:602152
91147	TMEM67	HP:0002970	Genu varum	-	OMIM:615777
91147	TMEM67	HP:0000303	Mandibular prognathia	-	OMIM:131300
91147	TMEM67	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:602152
91147	TMEM67	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:564
91147	TMEM67	HP:0000405	Conductive hearing impairment	-	OMIM:602152
91147	TMEM67	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
91147	TMEM67	HP:0000486	Strabismus	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0000486	Strabismus	HP:0040283	ORPHA:475
91147	TMEM67	HP:0000486	Strabismus	1/7	OMIM:613550
91147	TMEM67	HP:0000482	Microcornea	HP:0040282	ORPHA:564
91147	TMEM67	HP:0000490	Deeply set eye	-	OMIM:602152
91147	TMEM67	HP:0000490	Deeply set eye	HP:0040282	ORPHA:140976
91147	TMEM67	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
91147	TMEM67	HP:0000463	Anteverted nares	-	OMIM:216360
91147	TMEM67	HP:0000463	Anteverted nares	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0000457	Depressed nasal ridge	HP:0040282	ORPHA:564
91147	TMEM67	HP:0000470	Short neck	1/7	OMIM:615777
91147	TMEM67	HP:0031589	Suicidal ideation	HP:0040283	ORPHA:84081
91147	TMEM67	HP:0001769	Broad foot	HP:0040283	OMIM:615777
91147	TMEM67	HP:0001763	Pes planus	1/7	OMIM:615777
91147	TMEM67	HP:0001746	Asplenia	HP:0040283	ORPHA:564
91147	TMEM67	HP:0001747	Accessory spleen	HP:0040283	ORPHA:564
91147	TMEM67	HP:0001744	Splenomegaly	-	OMIM:216360
91147	TMEM67	HP:0001744	Splenomegaly	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
91147	TMEM67	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0006706	Cystic liver disease	HP:0040283	ORPHA:564
91147	TMEM67	HP:0000518	Cataract	HP:0040282	ORPHA:564
91147	TMEM67	HP:0000510	Rod-cone dystrophy	1/1	OMIM:602152
91147	TMEM67	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
91147	TMEM67	HP:0000510	Rod-cone dystrophy	HP:0040281	ORPHA:140976
91147	TMEM67	HP:0000510	Rod-cone dystrophy	1/1	OMIM:615991
91147	TMEM67	HP:0001840	Metatarsus adductus	-	OMIM:615777
91147	TMEM67	HP:0000528	Anophthalmia	HP:0040283	ORPHA:564
91147	TMEM67	HP:0000520	Proptosis	2/4	OMIM:131300
91147	TMEM67	HP:0000520	Proptosis	7/7	OMIM:615777
91147	TMEM67	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
91147	TMEM67	HP:0000508	Ptosis	1/1	OMIM:602152
91147	TMEM67	HP:0000508	Ptosis	-	OMIM:216360
91147	TMEM67	HP:0000508	Ptosis	HP:0040283	ORPHA:1454
91147	TMEM67	HP:0000508	Ptosis	HP:0040283	ORPHA:475
91147	TMEM67	HP:0000508	Ptosis	HP:0040281	ORPHA:140976
91147	TMEM67	HP:0000505	Visual impairment	HP:0040282	ORPHA:1454
91147	TMEM67	HP:0001830	Postaxial foot polydactyly	1/12	OMIM:607361
91147	TMEM67	HP:0001830	Postaxial foot polydactyly	HP:0040281	ORPHA:564
91147	TMEM67	HP:0012591	Abnormal urinary electrolyte concentration	HP:0040282	ORPHA:84081
91147	TMEM67	HP:0012585	Renal atrophy	HP:0040283	ORPHA:84081
91147	TMEM67	HP:0000575	Scotoma	5/18	OMIM:180100
91147	TMEM67	HP:0000577	Exotropia	1/1	OMIM:602152
91147	TMEM67	HP:0000592	Blue sclerae	2/7	OMIM:615777
91147	TMEM67	HP:0000589	Coloboma	5/12	OMIM:216360
91147	TMEM67	HP:0000588	Optic disc coloboma	HP:0040282	ORPHA:1454
91147	TMEM67	HP:0000568	Microphthalmia	HP:0040282	ORPHA:564
91147	TMEM67	HP:0000567	Chorioretinal coloboma	-	OMIM:610688
91147	TMEM67	HP:0000567	Chorioretinal coloboma	HP:0040282	ORPHA:1454
91147	TMEM67	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
91147	TMEM67	HP:0000532	Abnormal chorioretinal morphology	HP:0040282	ORPHA:564
91147	TMEM67	HP:0001883	Talipes	HP:0040282	ORPHA:564
91147	TMEM67	HP:0012514	Lower limb pain	4/4	OMIM:131300
91147	TMEM67	HP:0000546	Retinal degeneration	1/7	OMIM:613550
91147	TMEM67	HP:0000546	Retinal degeneration	-	OMIM:610688
91147	TMEM67	HP:0000543	Optic disc pallor	1/12	OMIM:216360
91147	TMEM67	HP:0000543	Optic disc pallor	1/1	OMIM:180100
91147	TMEM67	HP:0000545	Myopia	-	OMIM:180100
91179	SCARF2	HP:0001182	Tapered finger	4/4	OMIM:600920
91179	SCARF2	HP:0001166	Arachnodactyly	-	OMIM:600920
91179	SCARF2	HP:0001166	Arachnodactyly	HP:0040281	ORPHA:2460
91179	SCARF2	HP:6000506	Radioulnar subluxation	5/5	OMIM:600920
91179	SCARF2	HP:0010946	Dilatation of the renal pelvis	1/4	OMIM:600920
91179	SCARF2	HP:0009929	Abnormal columella morphology	HP:0040283	ORPHA:2460
91179	SCARF2	HP:0001195	Single umbilical artery	-	OMIM:600920
91179	SCARF2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
91179	SCARF2	HP:0001293	Cranial nerve compression	-	OMIM:131300
91179	SCARF2	HP:0001252	Hypotonia	2/7	OMIM:615777
91179	SCARF2	HP:0001249	Intellectual disability	0/4	OMIM:600920
91179	SCARF2	HP:0001249	Intellectual disability	5/7	OMIM:615777
91179	SCARF2	HP:0001263	Global developmental delay	-	OMIM:615777
91179	SCARF2	HP:0008744	Abnormal aryepiglottic fold morphology	HP:0040283	ORPHA:2460
91179	SCARF2	HP:0001215	Camptodactyly of 2nd-5th fingers	4/4	OMIM:600920
91179	SCARF2	HP:0002515	Waddling gait	54/102	OMIM:131300
91179	SCARF2	HP:0001382	Joint hypermobility	2/2	OMIM:600920
91179	SCARF2	HP:0001382	Joint hypermobility	-	OMIM:615777
91179	SCARF2	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:2460
91179	SCARF2	HP:0001363	Craniosynostosis	-	OMIM:600920
91179	SCARF2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
91179	SCARF2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
91179	SCARF2	HP:0006236	Slender metacarpals	HP:0040282	ORPHA:2460
91179	SCARF2	HP:0006236	Slender metacarpals	-	OMIM:600920
91179	SCARF2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
91179	SCARF2	HP:0001324	Muscle weakness	40/96	OMIM:131300
91179	SCARF2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
91179	SCARF2	HP:0000007	Autosomal recessive inheritance	-	OMIM:600920
91179	SCARF2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
91179	SCARF2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
91179	SCARF2	HP:0002650	Scoliosis	12/14	OMIM:131300
91179	SCARF2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
91179	SCARF2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
91179	SCARF2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
91179	SCARF2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
91179	SCARF2	HP:0000160	Narrow mouth	HP:0040283	ORPHA:2460
91179	SCARF2	HP:0000160	Narrow mouth	4/4	OMIM:600920
91179	SCARF2	HP:0000175	Cleft palate	-	OMIM:600920
91179	SCARF2	HP:0000175	Cleft palate	2/7	OMIM:615777
91179	SCARF2	HP:0005001	Recurrent patellar dislocation	2/2	OMIM:600920
91179	SCARF2	HP:0002705	High, narrow palate	4/4	OMIM:600920
91179	SCARF2	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2460
91179	SCARF2	HP:0004691	2-3 toe syndactyly	HP:0040282	ORPHA:2460
91179	SCARF2	HP:0003388	Easy fatigability	36/76	OMIM:131300
91179	SCARF2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
91179	SCARF2	HP:0010493	Long metacarpals	-	OMIM:600920
91179	SCARF2	HP:0009473	Joint contracture of the hand	-	OMIM:600920
91179	SCARF2	HP:0003577	Congenital onset	4/4	OMIM:600920
91179	SCARF2	HP:0034671	Knee contracture	HP:0040283	ORPHA:2460
91179	SCARF2	HP:0003510	Severe short stature	7/7	OMIM:615777
91179	SCARF2	HP:0002315	Headache	-	OMIM:131300
91179	SCARF2	HP:0004976	Knee dislocation	6/7	OMIM:615777
91179	SCARF2	HP:0009803	Short phalanx of finger	-	OMIM:615777
91179	SCARF2	HP:0009763	Limb pain	63/92	OMIM:131300
91179	SCARF2	HP:0003621	Juvenile onset	-	OMIM:131300
91179	SCARF2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
91179	SCARF2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
91179	SCARF2	HP:6001056	Out-toeing	-	OMIM:131300
91179	SCARF2	HP:0000651	Diplopia	-	OMIM:131300
91179	SCARF2	HP:0000647	Sclerocornea	HP:0040283	ORPHA:2460
91179	SCARF2	HP:0000647	Sclerocornea	HP:0040283	OMIM:600920
91179	SCARF2	HP:0001956	Truncal obesity	2/7	OMIM:615777
91179	SCARF2	HP:0001903	Anemia	HP:0040283	OMIM:131300
91179	SCARF2	HP:0010049	Short metacarpal	-	OMIM:615777
91179	SCARF2	HP:0000678	Dental crowding	-	OMIM:600920
91179	SCARF2	HP:0000678	Dental crowding	-	OMIM:615777
91179	SCARF2	HP:0000678	Dental crowding	HP:0040283	ORPHA:2460
91179	SCARF2	HP:0000670	Carious teeth	-	OMIM:131300
91179	SCARF2	HP:0011304	Broad thumb	2/7	OMIM:615777
91179	SCARF2	HP:0000668	Hypodontia	-	OMIM:615777
91179	SCARF2	HP:0000664	Synophrys	-	OMIM:615777
91179	SCARF2	HP:0003083	Dislocated radial head	-	OMIM:600920
91179	SCARF2	HP:0003083	Dislocated radial head	HP:0040282	ORPHA:2460
91179	SCARF2	HP:0004396	Poor appetite	-	OMIM:131300
91179	SCARF2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
91179	SCARF2	HP:0003031	Ulnar bowing	-	OMIM:600920
91179	SCARF2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
91179	SCARF2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
91179	SCARF2	HP:0003026	Short long bone	7/7	OMIM:615777
91179	SCARF2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
91179	SCARF2	HP:0000767	Pectus excavatum	-	OMIM:600920
91179	SCARF2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
91179	SCARF2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
91179	SCARF2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
91179	SCARF2	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:2460
91179	SCARF2	HP:0000750	Delayed speech and language development	-	OMIM:615777
91179	SCARF2	HP:0011461	Fetal onset	7/7	OMIM:615777
91179	SCARF2	HP:0000774	Narrow chest	2/7	OMIM:615777
91179	SCARF2	HP:0000773	Short ribs	1/4	OMIM:600920
91179	SCARF2	HP:0003100	Slender long bone	-	OMIM:600920
91179	SCARF2	HP:0004411	Deviated nasal septum	HP:0040283	ORPHA:2460
91179	SCARF2	HP:0030799	Scaphocephaly	4/4	OMIM:600920
91179	SCARF2	HP:0005709	2-3 toe cutaneous syndactyly	4/4	OMIM:600920
91179	SCARF2	HP:0000926	Platyspondyly	1/7	OMIM:615777
91179	SCARF2	HP:0003180	Flat acetabular roof	-	OMIM:615777
91179	SCARF2	HP:0004482	Relative macrocephaly	-	OMIM:615777
91179	SCARF2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
91179	SCARF2	HP:0000882	Hypoplastic scapulae	1/4	OMIM:600920
91179	SCARF2	HP:0000883	Thin ribs	-	OMIM:600920
91179	SCARF2	HP:0000883	Thin ribs	HP:0040282	ORPHA:2460
91179	SCARF2	HP:0000823	Delayed puberty	-	OMIM:131300
91179	SCARF2	HP:0000895	Lateral clavicle hook	HP:0040282	ORPHA:2460
91179	SCARF2	HP:0000895	Lateral clavicle hook	2/2	OMIM:600920
91179	SCARF2	HP:0000894	Short clavicles	-	OMIM:615777
91179	SCARF2	HP:0000894	Short clavicles	1/4	OMIM:600920
91179	SCARF2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
91179	SCARF2	HP:0034392	Joint contracture	HP:0040282	ORPHA:2460
91179	SCARF2	HP:0034391	Elbow contracture	HP:0040282	ORPHA:2460
91179	SCARF2	HP:0034391	Elbow contracture	6/6	OMIM:600920
91179	SCARF2	HP:0010307	Stridor	-	OMIM:600920
91179	SCARF2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
91179	SCARF2	HP:0000960	Sacral dimple	1/4	OMIM:600920
91179	SCARF2	HP:0000286	Epicanthus	1/7	OMIM:615777
91179	SCARF2	HP:0000280	Coarse facial features	2/7	OMIM:615777
91179	SCARF2	HP:0000272	Malar flattening	HP:0040281	ORPHA:2460
91179	SCARF2	HP:0000272	Malar flattening	-	OMIM:600920
91179	SCARF2	HP:0002827	Hip dislocation	3/7	OMIM:615777
91179	SCARF2	HP:0030084	Clinodactyly	HP:0040283	ORPHA:2460
91179	SCARF2	HP:0006380	Knee flexion contracture	-	OMIM:600920
91179	SCARF2	HP:0005033	Distal ulnar hypoplasia	2/2	OMIM:600920
91179	SCARF2	HP:0000252	Microcephaly	-	OMIM:615777
91179	SCARF2	HP:0000218	High palate	HP:0040282	ORPHA:2460
91179	SCARF2	HP:0000218	High palate	6/6	OMIM:600920
91179	SCARF2	HP:0000232	Everted lower lip vermilion	6/6	OMIM:600920
91179	SCARF2	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:2460
91179	SCARF2	HP:0002857	Genu valgum	-	OMIM:131300
91179	SCARF2	HP:0002857	Genu valgum	2/2	OMIM:600920
91179	SCARF2	HP:0001533	Slender build	-	OMIM:131300
91179	SCARF2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
91179	SCARF2	HP:0007807	Optic nerve compression	-	OMIM:131300
91179	SCARF2	HP:0012385	Camptodactyly	HP:0040281	ORPHA:2460
91179	SCARF2	HP:0012385	Camptodactyly	6/6	OMIM:600920
91179	SCARF2	HP:0000385	Small earlobe	4/4	OMIM:600920
91179	SCARF2	HP:0012368	Flat face	7/7	OMIM:615777
91179	SCARF2	HP:0000396	Overfolded helix	4/6	OMIM:600920
91179	SCARF2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
91179	SCARF2	HP:0001601	Laryngomalacia	-	OMIM:600920
91179	SCARF2	HP:0006487	Bowing of the long bones	HP:0040282	ORPHA:2460
91179	SCARF2	HP:0000365	Hearing impairment	10/67	OMIM:131300
91179	SCARF2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2460
91179	SCARF2	HP:0000358	Posteriorly rotated ears	4/6	OMIM:600920
91179	SCARF2	HP:0000343	Long philtrum	1/7	OMIM:615777
91179	SCARF2	HP:0011001	Increased bone mineral density	-	OMIM:131300
91179	SCARF2	HP:0000347	Micrognathia	HP:0040283	ORPHA:2460
91179	SCARF2	HP:0000347	Micrognathia	4/4	OMIM:600920
91179	SCARF2	HP:0002980	Femoral bowing	-	OMIM:600920
91179	SCARF2	HP:0000311	Round face	2/7	OMIM:615777
91179	SCARF2	HP:0000327	Hypoplasia of the maxilla	10/10	OMIM:600920
91179	SCARF2	HP:0002987	Elbow flexion contracture	4/4	OMIM:600920
91179	SCARF2	HP:0000325	Triangular face	HP:0040282	ORPHA:2460
91179	SCARF2	HP:0000325	Triangular face	2/2	OMIM:600920
91179	SCARF2	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:2460
91179	SCARF2	HP:0002970	Genu varum	-	OMIM:615777
91179	SCARF2	HP:0000303	Mandibular prognathia	-	OMIM:131300
91179	SCARF2	HP:0006633	Glenoid fossa hypoplasia	HP:0040283	ORPHA:2460
91179	SCARF2	HP:0006633	Glenoid fossa hypoplasia	-	OMIM:600920
91179	SCARF2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:2460
91179	SCARF2	HP:0005280	Depressed nasal bridge	2/2	OMIM:600920
91179	SCARF2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
91179	SCARF2	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:2460
91179	SCARF2	HP:0000460	Narrow nose	HP:0040282	ORPHA:2460
91179	SCARF2	HP:0000460	Narrow nose	2/2	OMIM:600920
91179	SCARF2	HP:0001786	Narrow foot	-	OMIM:600920
91179	SCARF2	HP:0000470	Short neck	1/7	OMIM:615777
91179	SCARF2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
91179	SCARF2	HP:0001763	Pes planus	2/2	OMIM:600920
91179	SCARF2	HP:0001763	Pes planus	1/7	OMIM:615777
91179	SCARF2	HP:0000452	Choanal stenosis	-	OMIM:600920
91179	SCARF2	HP:0000444	Convex nasal ridge	4/4	OMIM:600920
91179	SCARF2	HP:0000411	Protruding ear	HP:0040282	ORPHA:2460
91179	SCARF2	HP:0000411	Protruding ear	-	OMIM:600920
91179	SCARF2	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:2460
91179	SCARF2	HP:0001762	Talipes equinovarus	-	OMIM:600920
91179	SCARF2	HP:0000430	Underdeveloped nasal alae	-	OMIM:600920
91179	SCARF2	HP:0000430	Underdeveloped nasal alae	HP:0040283	ORPHA:2460
91179	SCARF2	HP:0001847	Long hallux	3/3	OMIM:600920
91179	SCARF2	HP:0001840	Metatarsus adductus	-	OMIM:615777
91179	SCARF2	HP:0000520	Proptosis	2/4	OMIM:131300
91179	SCARF2	HP:0000520	Proptosis	7/7	OMIM:615777
91179	SCARF2	HP:0001822	Hallux valgus	2/2	OMIM:600920
91179	SCARF2	HP:0001822	Hallux valgus	HP:0040282	ORPHA:2460
91179	SCARF2	HP:0001833	Long foot	HP:0040282	ORPHA:2460
91179	SCARF2	HP:0001836	Camptodactyly of toe	-	OMIM:600920
91179	SCARF2	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:2460
91179	SCARF2	HP:0000581	Blepharophimosis	10/10	OMIM:600920
91179	SCARF2	HP:0000592	Blue sclerae	2/7	OMIM:615777
91179	SCARF2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
91179	SCARF2	HP:0000534	Abnormal eyebrow morphology	-	OMIM:600920
91179	SCARF2	HP:0012514	Lower limb pain	4/4	OMIM:131300
91252	SLC39A13	HP:0001182	Tapered finger	HP:0040282	ORPHA:157965
91252	SLC39A13	HP:0001182	Tapered finger	-	OMIM:612350
91252	SLC39A13	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
91252	SLC39A13	HP:0001293	Cranial nerve compression	-	OMIM:131300
91252	SLC39A13	HP:0001270	Motor delay	3/6	OMIM:612350
91252	SLC39A13	HP:0001252	Hypotonia	2/7	OMIM:615777
91252	SLC39A13	HP:0001249	Intellectual disability	5/7	OMIM:615777
91252	SLC39A13	HP:0001263	Global developmental delay	-	OMIM:615777
91252	SLC39A13	HP:0100864	Short femoral neck	HP:0040282	ORPHA:157965
91252	SLC39A13	HP:0100864	Short femoral neck	-	OMIM:612350
91252	SLC39A13	HP:0002515	Waddling gait	54/102	OMIM:131300
91252	SLC39A13	HP:0002515	Waddling gait	-	OMIM:612350
91252	SLC39A13	HP:0001371	Flexion contracture	HP:0040283	ORPHA:157965
91252	SLC39A13	HP:0001382	Joint hypermobility	-	OMIM:612350
91252	SLC39A13	HP:0001382	Joint hypermobility	-	OMIM:615777
91252	SLC39A13	HP:0002694	Sclerosis of skull base	-	OMIM:131300
91252	SLC39A13	HP:0008897	Postnatal growth retardation	-	OMIM:615777
91252	SLC39A13	HP:0008848	Moderately short stature	HP:0040281	ORPHA:157965
91252	SLC39A13	HP:0008848	Moderately short stature	-	OMIM:612350
91252	SLC39A13	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
91252	SLC39A13	HP:0001324	Muscle weakness	40/96	OMIM:131300
91252	SLC39A13	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
91252	SLC39A13	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
91252	SLC39A13	HP:0000007	Autosomal recessive inheritance	-	OMIM:612350
91252	SLC39A13	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
91252	SLC39A13	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:157965
91252	SLC39A13	HP:0002650	Scoliosis	12/14	OMIM:131300
91252	SLC39A13	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
91252	SLC39A13	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
91252	SLC39A13	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
91252	SLC39A13	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
91252	SLC39A13	HP:0000193	Bifid uvula	3/8	OMIM:612350
91252	SLC39A13	HP:0000175	Cleft palate	2/7	OMIM:615777
91252	SLC39A13	HP:0002751	Kyphoscoliosis	1/7	OMIM:612350
91252	SLC39A13	HP:0002007	Frontal bossing	-	OMIM:612350
91252	SLC39A13	HP:0003301	Irregular vertebral endplates	-	OMIM:612350
91252	SLC39A13	HP:0003393	Thenar muscle atrophy	HP:0040282	ORPHA:157965
91252	SLC39A13	HP:0003393	Thenar muscle atrophy	-	OMIM:612350
91252	SLC39A13	HP:0003370	Flat capital femoral epiphysis	HP:0040282	ORPHA:157965
91252	SLC39A13	HP:0003370	Flat capital femoral epiphysis	-	OMIM:612350
91252	SLC39A13	HP:0003388	Easy fatigability	36/76	OMIM:131300
91252	SLC39A13	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
91252	SLC39A13	HP:0010489	Absent palmar crease	HP:0040282	ORPHA:157965
91252	SLC39A13	HP:0009473	Joint contracture of the hand	-	OMIM:612350
91252	SLC39A13	HP:0100490	Camptodactyly of finger	-	OMIM:612350
91252	SLC39A13	HP:0003510	Severe short stature	7/7	OMIM:615777
91252	SLC39A13	HP:0001015	Prominent superficial veins	-	OMIM:612350
91252	SLC39A13	HP:0002315	Headache	-	OMIM:131300
91252	SLC39A13	HP:0004976	Knee dislocation	6/7	OMIM:615777
91252	SLC39A13	HP:0001073	Cigarette-paper scars	5/7	OMIM:612350
91252	SLC39A13	HP:0009803	Short phalanx of finger	-	OMIM:615777
91252	SLC39A13	HP:0009803	Short phalanx of finger	-	OMIM:612350
91252	SLC39A13	HP:0009763	Limb pain	63/92	OMIM:131300
91252	SLC39A13	HP:0003621	Juvenile onset	-	OMIM:131300
91252	SLC39A13	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
91252	SLC39A13	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
91252	SLC39A13	HP:6001056	Out-toeing	-	OMIM:131300
91252	SLC39A13	HP:0000651	Diplopia	-	OMIM:131300
91252	SLC39A13	HP:0001956	Truncal obesity	2/7	OMIM:615777
91252	SLC39A13	HP:0001903	Anemia	HP:0040283	OMIM:131300
91252	SLC39A13	HP:0010049	Short metacarpal	-	OMIM:615777
91252	SLC39A13	HP:0010049	Short metacarpal	-	OMIM:612350
91252	SLC39A13	HP:0000684	Delayed eruption of teeth	-	OMIM:612350
91252	SLC39A13	HP:0000678	Dental crowding	-	OMIM:615777
91252	SLC39A13	HP:0000689	Dental malocclusion	-	OMIM:612350
91252	SLC39A13	HP:0000670	Carious teeth	-	OMIM:131300
91252	SLC39A13	HP:0011304	Broad thumb	2/7	OMIM:615777
91252	SLC39A13	HP:0000668	Hypodontia	-	OMIM:615777
91252	SLC39A13	HP:0000668	Hypodontia	-	OMIM:612350
91252	SLC39A13	HP:0000664	Synophrys	-	OMIM:615777
91252	SLC39A13	HP:0004322	Short stature	-	OMIM:612350
91252	SLC39A13	HP:0003071	Flattened epiphysis	HP:0040282	ORPHA:157965
91252	SLC39A13	HP:0003071	Flattened epiphysis	-	OMIM:612350
91252	SLC39A13	HP:0003083	Dislocated radial head	3/6	OMIM:612350
91252	SLC39A13	HP:0004396	Poor appetite	-	OMIM:131300
91252	SLC39A13	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
91252	SLC39A13	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
91252	SLC39A13	HP:0003015	Flared metaphysis	4/6	OMIM:612350
91252	SLC39A13	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
91252	SLC39A13	HP:0003026	Short long bone	7/7	OMIM:615777
91252	SLC39A13	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
91252	SLC39A13	HP:0000767	Pectus excavatum	2/7	OMIM:615777
91252	SLC39A13	HP:0000768	Pectus carinatum	1/7	OMIM:615777
91252	SLC39A13	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
91252	SLC39A13	HP:0000750	Delayed speech and language development	-	OMIM:615777
91252	SLC39A13	HP:0011461	Fetal onset	7/7	OMIM:615777
91252	SLC39A13	HP:0000774	Narrow chest	2/7	OMIM:615777
91252	SLC39A13	HP:0000926	Platyspondyly	HP:0040282	ORPHA:157965
91252	SLC39A13	HP:0000926	Platyspondyly	-	OMIM:612350
91252	SLC39A13	HP:0000926	Platyspondyly	1/7	OMIM:615777
91252	SLC39A13	HP:0003180	Flat acetabular roof	-	OMIM:615777
91252	SLC39A13	HP:0004482	Relative macrocephaly	-	OMIM:615777
91252	SLC39A13	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
91252	SLC39A13	HP:0000823	Delayed puberty	-	OMIM:131300
91252	SLC39A13	HP:0000894	Short clavicles	-	OMIM:615777
91252	SLC39A13	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
91252	SLC39A13	HP:0000978	Bruising susceptibility	HP:0040281	ORPHA:157965
91252	SLC39A13	HP:0000978	Bruising susceptibility	-	OMIM:612350
91252	SLC39A13	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:157965
91252	SLC39A13	HP:0000974	Hyperextensible skin	-	OMIM:612350
91252	SLC39A13	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
91252	SLC39A13	HP:0000963	Thin skin	HP:0040281	ORPHA:157965
91252	SLC39A13	HP:0000963	Thin skin	-	OMIM:612350
91252	SLC39A13	HP:0000938	Osteopenia	HP:0040282	ORPHA:157965
91252	SLC39A13	HP:0000938	Osteopenia	7/9	OMIM:612350
91252	SLC39A13	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:157965
91252	SLC39A13	HP:0000286	Epicanthus	1/7	OMIM:615777
91252	SLC39A13	HP:0000280	Coarse facial features	2/7	OMIM:615777
91252	SLC39A13	HP:0006429	Broad femoral neck	HP:0040282	ORPHA:157965
91252	SLC39A13	HP:0006429	Broad femoral neck	-	OMIM:612350
91252	SLC39A13	HP:0002827	Hip dislocation	3/7	OMIM:615777
91252	SLC39A13	HP:0000252	Microcephaly	-	OMIM:615777
91252	SLC39A13	HP:0000218	High palate	-	OMIM:612350
91252	SLC39A13	HP:0002857	Genu valgum	-	OMIM:131300
91252	SLC39A13	HP:0001533	Slender build	-	OMIM:131300
91252	SLC39A13	HP:0001508	Failure to thrive	HP:0040281	ORPHA:157965
91252	SLC39A13	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
91252	SLC39A13	HP:0007807	Optic nerve compression	-	OMIM:131300
91252	SLC39A13	HP:0012368	Flat face	7/7	OMIM:615777
91252	SLC39A13	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
91252	SLC39A13	HP:0000365	Hearing impairment	10/67	OMIM:131300
91252	SLC39A13	HP:0000343	Long philtrum	1/7	OMIM:615777
91252	SLC39A13	HP:0011001	Increased bone mineral density	-	OMIM:131300
91252	SLC39A13	HP:0000316	Hypertelorism	1/1	OMIM:612350
91252	SLC39A13	HP:0000311	Round face	2/7	OMIM:615777
91252	SLC39A13	HP:0002970	Genu varum	-	OMIM:615777
91252	SLC39A13	HP:0000303	Mandibular prognathia	-	OMIM:131300
91252	SLC39A13	HP:0005280	Depressed nasal bridge	1/1	OMIM:612350
91252	SLC39A13	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
91252	SLC39A13	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:157965
91252	SLC39A13	HP:0000494	Downslanted palpebral fissures	-	OMIM:612350
91252	SLC39A13	HP:0000470	Short neck	1/7	OMIM:615777
91252	SLC39A13	HP:0000465	Webbed neck	8/8	OMIM:612350
91252	SLC39A13	HP:0001769	Broad foot	HP:0040283	OMIM:615777
91252	SLC39A13	HP:0001763	Pes planus	-	OMIM:612350
91252	SLC39A13	HP:0001763	Pes planus	1/7	OMIM:615777
91252	SLC39A13	HP:0001840	Metatarsus adductus	-	OMIM:615777
91252	SLC39A13	HP:0000520	Proptosis	2/4	OMIM:131300
91252	SLC39A13	HP:0000520	Proptosis	HP:0040281	ORPHA:157965
91252	SLC39A13	HP:0000520	Proptosis	7/7	OMIM:615777
91252	SLC39A13	HP:0000592	Blue sclerae	2/7	OMIM:615777
91252	SLC39A13	HP:0000592	Blue sclerae	HP:0040281	ORPHA:157965
91252	SLC39A13	HP:0000592	Blue sclerae	-	OMIM:612350
91252	SLC39A13	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
91252	SLC39A13	HP:0012514	Lower limb pain	4/4	OMIM:131300
91452	ACBD5	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
91452	ACBD5	HP:0009904	Prominent ear helix	1/1	OMIM:618863
91452	ACBD5	HP:0003701	Proximal muscle weakness	1/1	OMIM:618863
91452	ACBD5	HP:0001270	Motor delay	1/1	OMIM:618863
91452	ACBD5	HP:0001260	Dysarthria	1/1	OMIM:618863
91452	ACBD5	HP:0002515	Waddling gait	1/1	OMIM:618863
91452	ACBD5	HP:0002527	Falls	1/1	OMIM:618863
91452	ACBD5	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
91452	ACBD5	HP:0000007	Autosomal recessive inheritance	-	OMIM:618863
91452	ACBD5	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
91452	ACBD5	HP:0001310	Dysmetria	1/1	OMIM:618863
91452	ACBD5	HP:0001488	Bilateral ptosis	1/1	OMIM:618863
91452	ACBD5	HP:0000175	Cleft palate	1/1	OMIM:618863
91452	ACBD5	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
91452	ACBD5	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
91452	ACBD5	HP:0003391	Gowers sign	1/1	OMIM:618863
91452	ACBD5	HP:0008167	Very long chain fatty acid accumulation	1/1	OMIM:618863
91452	ACBD5	HP:0003429	CNS hypomyelination	1/1	OMIM:618863
91452	ACBD5	HP:0003621	Juvenile onset	8/19	OMIM:180100
91452	ACBD5	HP:0000601	Hypotelorism	1/1	OMIM:618863
91452	ACBD5	HP:0000662	Nyctalopia	26/28	OMIM:180100
91452	ACBD5	HP:0000750	Delayed speech and language development	1/1	OMIM:618863
91452	ACBD5	HP:0011463	Childhood onset	3/19	OMIM:180100
91452	ACBD5	HP:0011462	Young adult onset	8/19	OMIM:180100
91452	ACBD5	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
91452	ACBD5	HP:0000253	Progressive microcephaly	1/1	OMIM:618863
91452	ACBD5	HP:0001583	Rotary nystagmus	1/1	OMIM:618863
91452	ACBD5	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
91452	ACBD5	HP:0030147	Truncal titubation	1/1	OMIM:618863
91452	ACBD5	HP:0000510	Rod-cone dystrophy	1/1	OMIM:618863
91452	ACBD5	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
91452	ACBD5	HP:0000575	Scotoma	5/18	OMIM:180100
91452	ACBD5	HP:0000543	Optic disc pallor	1/1	OMIM:180100
91452	ACBD5	HP:0000545	Myopia	-	OMIM:180100
91461	PKDCC	HP:0001187	Hyperextensibility of the finger joints	1/2	OMIM:618821
91461	PKDCC	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
91461	PKDCC	HP:0001293	Cranial nerve compression	-	OMIM:131300
91461	PKDCC	HP:0001252	Hypotonia	2/7	OMIM:615777
91461	PKDCC	HP:0001249	Intellectual disability	5/7	OMIM:615777
91461	PKDCC	HP:0001263	Global developmental delay	-	OMIM:615777
91461	PKDCC	HP:0001212	Prominent fingertip pads	1/2	OMIM:618821
91461	PKDCC	HP:0002515	Waddling gait	54/102	OMIM:131300
91461	PKDCC	HP:0001382	Joint hypermobility	-	OMIM:615777
91461	PKDCC	HP:0001348	Brisk reflexes	1/2	OMIM:618821
91461	PKDCC	HP:0002694	Sclerosis of skull base	-	OMIM:131300
91461	PKDCC	HP:0001357	Plagiocephaly	1/2	OMIM:618821
91461	PKDCC	HP:0008897	Postnatal growth retardation	-	OMIM:615777
91461	PKDCC	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
91461	PKDCC	HP:0001324	Muscle weakness	40/96	OMIM:131300
91461	PKDCC	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
91461	PKDCC	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
91461	PKDCC	HP:0000007	Autosomal recessive inheritance	-	OMIM:618821
91461	PKDCC	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
91461	PKDCC	HP:0002650	Scoliosis	12/14	OMIM:131300
91461	PKDCC	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
91461	PKDCC	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
91461	PKDCC	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
91461	PKDCC	HP:0008905	Rhizomelia	2/2	OMIM:618821
91461	PKDCC	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
91461	PKDCC	HP:0000175	Cleft palate	2/7	OMIM:615777
91461	PKDCC	HP:0003388	Easy fatigability	36/76	OMIM:131300
91461	PKDCC	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
91461	PKDCC	HP:0002188	Delayed CNS myelination	1/2	OMIM:618821
91461	PKDCC	HP:0003510	Severe short stature	7/7	OMIM:615777
91461	PKDCC	HP:0002315	Headache	-	OMIM:131300
91461	PKDCC	HP:0004976	Knee dislocation	6/7	OMIM:615777
91461	PKDCC	HP:0009803	Short phalanx of finger	-	OMIM:615777
91461	PKDCC	HP:0009778	Short thumb	1/2	OMIM:618821
91461	PKDCC	HP:0009763	Limb pain	63/92	OMIM:131300
91461	PKDCC	HP:0003621	Juvenile onset	-	OMIM:131300
91461	PKDCC	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
91461	PKDCC	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
91461	PKDCC	HP:0012623	Stage 1 chronic kidney disease	1/2	OMIM:618821
91461	PKDCC	HP:6001056	Out-toeing	-	OMIM:131300
91461	PKDCC	HP:0000651	Diplopia	-	OMIM:131300
91461	PKDCC	HP:0001956	Truncal obesity	2/7	OMIM:615777
91461	PKDCC	HP:0001903	Anemia	HP:0040283	OMIM:131300
91461	PKDCC	HP:0010049	Short metacarpal	-	OMIM:615777
91461	PKDCC	HP:0000678	Dental crowding	-	OMIM:615777
91461	PKDCC	HP:0000670	Carious teeth	-	OMIM:131300
91461	PKDCC	HP:0011304	Broad thumb	2/7	OMIM:615777
91461	PKDCC	HP:0000668	Hypodontia	-	OMIM:615777
91461	PKDCC	HP:0000664	Synophrys	-	OMIM:615777
91461	PKDCC	HP:0004396	Poor appetite	-	OMIM:131300
91461	PKDCC	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
91461	PKDCC	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
91461	PKDCC	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
91461	PKDCC	HP:0003026	Short long bone	7/7	OMIM:615777
91461	PKDCC	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
91461	PKDCC	HP:0000767	Pectus excavatum	2/7	OMIM:615777
91461	PKDCC	HP:0000768	Pectus carinatum	1/7	OMIM:615777
91461	PKDCC	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
91461	PKDCC	HP:0000750	Delayed speech and language development	-	OMIM:615777
91461	PKDCC	HP:0011461	Fetal onset	7/7	OMIM:615777
91461	PKDCC	HP:0000774	Narrow chest	2/7	OMIM:615777
91461	PKDCC	HP:0000926	Platyspondyly	1/7	OMIM:615777
91461	PKDCC	HP:0003180	Flat acetabular roof	-	OMIM:615777
91461	PKDCC	HP:0004482	Relative macrocephaly	-	OMIM:615777
91461	PKDCC	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
91461	PKDCC	HP:0000823	Delayed puberty	-	OMIM:131300
91461	PKDCC	HP:0040024	Clinodactyly of the 3rd finger	1/2	OMIM:618821
91461	PKDCC	HP:0000894	Short clavicles	-	OMIM:615777
91461	PKDCC	HP:0009237	Short 5th finger	1/2	OMIM:618821
91461	PKDCC	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
91461	PKDCC	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
91461	PKDCC	HP:0000954	Single transverse palmar crease	1/2	OMIM:618821
91461	PKDCC	HP:0000956	Acanthosis nigricans	1/2	OMIM:618821
91461	PKDCC	HP:0000286	Epicanthus	1/7	OMIM:615777
91461	PKDCC	HP:0000280	Coarse facial features	2/7	OMIM:615777
91461	PKDCC	HP:0000256	Macrocephaly	1/2	OMIM:618821
91461	PKDCC	HP:0006467	Limited shoulder movement	1/2	OMIM:618821
91461	PKDCC	HP:0002829	Arthralgia	1/2	OMIM:618821
91461	PKDCC	HP:0002827	Hip dislocation	3/7	OMIM:615777
91461	PKDCC	HP:0000252	Microcephaly	-	OMIM:615777
91461	PKDCC	HP:0002857	Genu valgum	-	OMIM:131300
91461	PKDCC	HP:0001533	Slender build	-	OMIM:131300
91461	PKDCC	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
91461	PKDCC	HP:0001513	Obesity	1/2	OMIM:618821
91461	PKDCC	HP:0007807	Optic nerve compression	-	OMIM:131300
91461	PKDCC	HP:0012368	Flat face	7/7	OMIM:615777
91461	PKDCC	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
91461	PKDCC	HP:0001601	Laryngomalacia	1/2	OMIM:618821
91461	PKDCC	HP:0000365	Hearing impairment	10/67	OMIM:131300
91461	PKDCC	HP:0000343	Long philtrum	1/7	OMIM:615777
91461	PKDCC	HP:0000343	Long philtrum	2/2	OMIM:618821
91461	PKDCC	HP:0011001	Increased bone mineral density	-	OMIM:131300
91461	PKDCC	HP:0002999	Patellar dislocation	1/2	OMIM:618821
91461	PKDCC	HP:0000347	Micrognathia	1/2	OMIM:618821
91461	PKDCC	HP:0000319	Smooth philtrum	1/2	OMIM:618821
91461	PKDCC	HP:0000311	Round face	2/7	OMIM:615777
91461	PKDCC	HP:0001655	Patent foramen ovale	1/2	OMIM:618821
91461	PKDCC	HP:0002970	Genu varum	-	OMIM:615777
91461	PKDCC	HP:0000303	Mandibular prognathia	-	OMIM:131300
91461	PKDCC	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
91461	PKDCC	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:618821
91461	PKDCC	HP:0000470	Short neck	1/7	OMIM:615777
91461	PKDCC	HP:0000470	Short neck	1/2	OMIM:618821
91461	PKDCC	HP:0001769	Broad foot	HP:0040283	OMIM:615777
91461	PKDCC	HP:0001763	Pes planus	1/7	OMIM:615777
91461	PKDCC	HP:0000431	Wide nasal bridge	1/2	OMIM:618821
91461	PKDCC	HP:0001840	Metatarsus adductus	-	OMIM:615777
91461	PKDCC	HP:0000520	Proptosis	2/4	OMIM:131300
91461	PKDCC	HP:0000520	Proptosis	7/7	OMIM:615777
91461	PKDCC	HP:0000520	Proptosis	1/2	OMIM:618821
91461	PKDCC	HP:0000592	Blue sclerae	2/7	OMIM:615777
91461	PKDCC	HP:0011220	Prominent forehead	1/2	OMIM:618821
91461	PKDCC	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
91461	PKDCC	HP:0012514	Lower limb pain	4/4	OMIM:131300
91574	MTRFR	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
91574	MTRFR	HP:0001138	Optic neuropathy	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0001123	Visual field defect	HP:0040282	ORPHA:254930
91574	MTRFR	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:254930
91574	MTRFR	HP:0007209	Facial paralysis	2/3	OMIM:613559
91574	MTRFR	HP:0007210	Lower limb amyotrophy	2/2	OMIM:615035
91574	MTRFR	HP:0001271	Polyneuropathy	2/3	OMIM:613559
91574	MTRFR	HP:0001288	Gait disturbance	-	OMIM:615035
91574	MTRFR	HP:0001288	Gait disturbance	HP:0040282	ORPHA:254930
91574	MTRFR	HP:0001283	Bulbar palsy	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0001284	Areflexia	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0001284	Areflexia	12/13	OMIM:613559
91574	MTRFR	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0001252	Hypotonia	2/3	OMIM:613559
91574	MTRFR	HP:0001251	Ataxia	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0001251	Ataxia	11/13	OMIM:613559
91574	MTRFR	HP:0001249	Intellectual disability	HP:0040283	OMIM:615035
91574	MTRFR	HP:0001260	Dysarthria	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0001260	Dysarthria	2/3	OMIM:613559
91574	MTRFR	HP:0001263	Global developmental delay	HP:0040282	ORPHA:254930
91574	MTRFR	HP:0001263	Global developmental delay	HP:0040283	OMIM:615035
91574	MTRFR	HP:0001263	Global developmental delay	3/3	OMIM:613559
91574	MTRFR	HP:0002590	Paralytic ileus	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0002590	Paralytic ileus	2/3	OMIM:613559
91574	MTRFR	HP:0001258	Spastic paraplegia	2/2	OMIM:615035
91574	MTRFR	HP:0001257	Spasticity	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:254930
91574	MTRFR	HP:0007340	Lower limb muscle weakness	2/2	OMIM:615035
91574	MTRFR	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0002540	Inability to walk	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0001349	Facial diplegia	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0001349	Facial diplegia	2/2	OMIM:613559
91574	MTRFR	HP:0001347	Hyperreflexia	2/2	OMIM:615035
91574	MTRFR	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0001324	Muscle weakness	-	OMIM:613559
91574	MTRFR	HP:0000007	Autosomal recessive inheritance	-	OMIM:615035
91574	MTRFR	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
91574	MTRFR	HP:0000007	Autosomal recessive inheritance	-	OMIM:613559
91574	MTRFR	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
91574	MTRFR	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
91574	MTRFR	HP:0007663	Reduced visual acuity	2/2	OMIM:615035
91574	MTRFR	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
91574	MTRFR	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0007641	Dyschromatopsia	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0008963	Tibialis muscle weakness	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0008947	Floppy infant	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0002015	Dysphagia	1/3	OMIM:613559
91574	MTRFR	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:254930
91574	MTRFR	HP:0100543	Cognitive impairment	-	OMIM:615035
91574	MTRFR	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:320375
91574	MTRFR	HP:0002061	Lower limb spasticity	2/2	OMIM:615035
91574	MTRFR	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	OMIM:615035
91574	MTRFR	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0003376	Steppage gait	1/2	OMIM:615035
91574	MTRFR	HP:0003383	Onion bulb formation	1/2	OMIM:615035
91574	MTRFR	HP:0003383	Onion bulb formation	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0003380	Decreased number of peripheral myelinated nerve fibers	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0003477	Peripheral axonal neuropathy	HP:0040282	ORPHA:254930
91574	MTRFR	HP:0003477	Peripheral axonal neuropathy	-	OMIM:615035
91574	MTRFR	HP:0003487	Babinski sign	1/2	OMIM:615035
91574	MTRFR	HP:0003487	Babinski sign	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0003484	Upper limb muscle weakness	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:613559
91574	MTRFR	HP:0003448	Decreased sensory nerve conduction velocity	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	-	OMIM:613559
91574	MTRFR	HP:0011923	Decreased activity of mitochondrial complex I	-	OMIM:613559
91574	MTRFR	HP:0200136	Oral-pharyngeal dysphagia	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0007042	Focal white matter lesions	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0007010	Poor fine motor coordination	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0008347	Decreased activity of mitochondrial complex IV	-	OMIM:613559
91574	MTRFR	HP:0020049	Exodeviation	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:254930
91574	MTRFR	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:254930
91574	MTRFR	HP:0002376	Developmental regression	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0002376	Developmental regression	3/3	OMIM:613559
91574	MTRFR	HP:0003676	Progressive	-	OMIM:613559
91574	MTRFR	HP:0002313	Spastic paraparesis	HP:0040282	ORPHA:254930
91574	MTRFR	HP:0002313	Spastic paraparesis	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0003621	Juvenile onset	2/2	OMIM:615035
91574	MTRFR	HP:0003621	Juvenile onset	8/19	OMIM:180100
91574	MTRFR	HP:0011399	Tibialis anterior muscle atrophy	1/1	OMIM:615035
91574	MTRFR	HP:0006886	Impaired distal vibration sensation	2/2	OMIM:615035
91574	MTRFR	HP:0000639	Nystagmus	HP:0040283	OMIM:615035
91574	MTRFR	HP:0000639	Nystagmus	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0000639	Nystagmus	3/3	OMIM:613559
91574	MTRFR	HP:0000648	Optic atrophy	1/1	OMIM:615035
91574	MTRFR	HP:0000648	Optic atrophy	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0000648	Optic atrophy	HP:0040281	ORPHA:254930
91574	MTRFR	HP:0000648	Optic atrophy	3/3	OMIM:613559
91574	MTRFR	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:254930
91574	MTRFR	HP:0000602	Ophthalmoplegia	1/3	OMIM:613559
91574	MTRFR	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:320375
91574	MTRFR	HP:0000603	Central scotoma	2/2	OMIM:615035
91574	MTRFR	HP:0012696	Abnormal thalamic MRI signal intensity	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0009027	Foot dorsiflexor weakness	1/2	OMIM:615035
91574	MTRFR	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0000662	Nyctalopia	26/28	OMIM:180100
91574	MTRFR	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:320375
91574	MTRFR	HP:0006937	Impaired distal tactile sensation	2/2	OMIM:615035
91574	MTRFR	HP:0012747	Abnormal brainstem MRI signal intensity	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0012707	Elevated brain lactate level by MRS	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0012707	Elevated brain lactate level by MRS	1/3	OMIM:613559
91574	MTRFR	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0011463	Childhood onset	3/19	OMIM:180100
91574	MTRFR	HP:0011463	Childhood onset	3/3	OMIM:613559
91574	MTRFR	HP:0011462	Young adult onset	8/19	OMIM:180100
91574	MTRFR	HP:0011449	Knee clonus	1/2	OMIM:615035
91574	MTRFR	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:254930
91574	MTRFR	HP:0003202	Skeletal muscle atrophy	2/3	OMIM:613559
91574	MTRFR	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
91574	MTRFR	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:320375
91574	MTRFR	HP:0001508	Failure to thrive	HP:0040282	ORPHA:254930
91574	MTRFR	HP:0001508	Failure to thrive	-	OMIM:613559
91574	MTRFR	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
91574	MTRFR	HP:0005216	Impaired mastication	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0005216	Impaired mastication	2/3	OMIM:613559
91574	MTRFR	HP:0002936	Distal sensory impairment	HP:0040282	ORPHA:254930
91574	MTRFR	HP:0002936	Distal sensory impairment	-	OMIM:615035
91574	MTRFR	HP:0002936	Distal sensory impairment	1/3	OMIM:613559
91574	MTRFR	HP:0002936	Distal sensory impairment	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0002943	Thoracic scoliosis	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0031629	Impaired tandem gait	HP:0040282	ORPHA:254930
91574	MTRFR	HP:0000486	Strabismus	-	OMIM:615035
91574	MTRFR	HP:0000486	Strabismus	HP:0040283	ORPHA:320375
91574	MTRFR	HP:0000486	Strabismus	2/3	OMIM:613559
91574	MTRFR	HP:0001762	Talipes equinovarus	-	OMIM:615035
91574	MTRFR	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:320375
91574	MTRFR	HP:0001761	Pes cavus	HP:0040282	ORPHA:254930
91574	MTRFR	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
91574	MTRFR	HP:0000508	Ptosis	HP:0040283	ORPHA:254930
91574	MTRFR	HP:0000508	Ptosis	1/3	OMIM:613559
91574	MTRFR	HP:0000505	Visual impairment	HP:0040281	ORPHA:254930
91574	MTRFR	HP:0000505	Visual impairment	-	OMIM:613559
91574	MTRFR	HP:0000575	Scotoma	5/18	OMIM:180100
91574	MTRFR	HP:0000543	Optic disc pallor	1/1	OMIM:180100
91574	MTRFR	HP:0000545	Myopia	-	OMIM:180100
91574	MTRFR	HP:0000544	External ophthalmoplegia	2/3	OMIM:613559
91624	NEXN	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
91624	NEXN	HP:0000006	Autosomal dominant inheritance	-	OMIM:613122
91624	NEXN	HP:0000006	Autosomal dominant inheritance	-	OMIM:613876
91624	NEXN	HP:0033755	Increased left ventricular end-diastolic volume	8/8	OMIM:613122
91624	NEXN	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
91624	NEXN	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
91624	NEXN	HP:0003596	Middle age onset	7/9	OMIM:613122
91624	NEXN	HP:0003584	Late onset	1/9	OMIM:613122
91624	NEXN	HP:0003581	Adult onset	5/6	OMIM:613876
91624	NEXN	HP:0003621	Juvenile onset	1/6	OMIM:613876
91624	NEXN	HP:0012664	Reduced left ventricular ejection fraction	0/6	OMIM:613876
91624	NEXN	HP:0012664	Reduced left ventricular ejection fraction	7/7	OMIM:613122
91624	NEXN	HP:0011462	Young adult onset	1/9	OMIM:613122
91624	NEXN	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
91624	NEXN	HP:0003198	Myopathy	HP:0040283	ORPHA:154
91624	NEXN	HP:0000969	Edema	HP:0040282	ORPHA:154
91624	NEXN	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
91624	NEXN	HP:0005110	Atrial fibrillation	1/6	OMIM:613876
91624	NEXN	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
91624	NEXN	HP:0012378	Fatigue	HP:0040282	ORPHA:154
91624	NEXN	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
91624	NEXN	HP:0001644	Dilated cardiomyopathy	9/9	OMIM:613122
91624	NEXN	HP:0001639	Hypertrophic cardiomyopathy	6/6	OMIM:613876
91624	NEXN	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
91624	NEXN	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
91624	NEXN	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
91624	NEXN	HP:0001712	Left ventricular hypertrophy	6/6	OMIM:613876
91647	ATPAF2	HP:0002490	Increased CSF lactate	1/1	OMIM:604273
91647	ATPAF2	HP:0002445	Tetraplegia	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0001298	Encephalopathy	HP:0040282	ORPHA:254913
91647	ATPAF2	HP:0001276	Hypertonia	1/1	OMIM:604273
91647	ATPAF2	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0001270	Motor delay	HP:0040282	ORPHA:254913
91647	ATPAF2	HP:0001254	Lethargy	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0001250	Seizure	HP:0040282	ORPHA:254913
91647	ATPAF2	HP:0001252	Hypotonia	HP:0040282	ORPHA:254913
91647	ATPAF2	HP:0001251	Ataxia	HP:0040282	ORPHA:254913
91647	ATPAF2	HP:0001260	Dysarthria	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0001258	Spastic paraplegia	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0003819	Death in childhood	1/1	OMIM:604273
91647	ATPAF2	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0000089	Renal hypoplasia	1/1	OMIM:604273
91647	ATPAF2	HP:0001371	Flexion contracture	1/1	OMIM:604273
91647	ATPAF2	HP:0001332	Dystonia	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0001324	Muscle weakness	HP:0040282	ORPHA:254913
91647	ATPAF2	HP:0000007	Autosomal recessive inheritance	-	OMIM:604273
91647	ATPAF2	HP:0000135	Hypogonadism	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0000154	Wide mouth	1/1	OMIM:604273
91647	ATPAF2	HP:0003355	Aminoaciduria	1/1	OMIM:604273
91647	ATPAF2	HP:0003348	Hyperalaninemia	HP:0040282	ORPHA:254913
91647	ATPAF2	HP:0002033	Poor suck	1/1	OMIM:604273
91647	ATPAF2	HP:0002098	Respiratory distress	HP:0040282	ORPHA:254913
91647	ATPAF2	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:604273
91647	ATPAF2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	1/1	OMIM:604273
91647	ATPAF2	HP:0003577	Congenital onset	1/1	OMIM:604273
91647	ATPAF2	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0002240	Hepatomegaly	1/1	OMIM:604273
91647	ATPAF2	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0003535	3-Methylglutaconic aciduria	HP:0040282	ORPHA:254913
91647	ATPAF2	HP:0003535	3-Methylglutaconic aciduria	1/1	OMIM:604273
91647	ATPAF2	HP:0003648	Lacticaciduria	1/1	OMIM:604273
91647	ATPAF2	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:254913
91647	ATPAF2	HP:0000639	Nystagmus	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0000618	Blindness	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0000602	Ophthalmoplegia	HP:0040284	ORPHA:254913
91647	ATPAF2	HP:0011344	Severe global developmental delay	1/1	OMIM:604273
91647	ATPAF2	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:254913
91647	ATPAF2	HP:0006989	Dysplastic corpus callosum	1/1	OMIM:604273
91647	ATPAF2	HP:0004322	Short stature	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:254913
91647	ATPAF2	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:254913
91647	ATPAF2	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0011675	Arrhythmia	HP:0040282	ORPHA:254913
91647	ATPAF2	HP:0000278	Retrognathia	1/1	OMIM:604273
91647	ATPAF2	HP:0000252	Microcephaly	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0000252	Microcephaly	1/1	OMIM:604273
91647	ATPAF2	HP:0001508	Failure to thrive	1/1	OMIM:604273
91647	ATPAF2	HP:0012385	Camptodactyly	1/1	OMIM:604273
91647	ATPAF2	HP:0000347	Micrognathia	1/1	OMIM:604273
91647	ATPAF2	HP:0032794	Myoclonic seizure	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:254913
91647	ATPAF2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:254913
91647	ATPAF2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0000486	Strabismus	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0000426	Prominent nasal bridge	1/1	OMIM:604273
91647	ATPAF2	HP:0011273	Anisocytosis	1/1	OMIM:604273
91647	ATPAF2	HP:0000518	Cataract	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0000510	Rod-cone dystrophy	HP:0040283	ORPHA:254913
91647	ATPAF2	HP:0001838	Rocker bottom foot	1/1	OMIM:604273
91647	ATPAF2	HP:0000508	Ptosis	HP:0040283	ORPHA:254913
91662	NLRP12	HP:0003829	Typified by incomplete penetrance	-	OMIM:611762
91662	NLRP12	HP:0001369	Arthritis	-	OMIM:611762
91662	NLRP12	HP:0000006	Autosomal dominant inheritance	-	OMIM:611762
91662	NLRP12	HP:0002716	Lymphadenopathy	3/6	OMIM:611762
91662	NLRP12	HP:0002027	Abdominal pain	-	OMIM:611762
91662	NLRP12	HP:0003326	Myalgia	5/7	OMIM:611762
91662	NLRP12	HP:0003593	Infantile onset	1/3	OMIM:611762
91662	NLRP12	HP:0003565	Elevated erythrocyte sedimentation rate	3/3	OMIM:611762
91662	NLRP12	HP:0001025	Urticaria	15/17	OMIM:611762
91662	NLRP12	HP:0002315	Headache	5/7	OMIM:611762
91662	NLRP12	HP:0003623	Neonatal onset	2/3	OMIM:611762
91662	NLRP12	HP:0001974	Increased total leukocyte count	3/3	OMIM:611762
91662	NLRP12	HP:0001954	Recurrent fever	3/3	OMIM:611762
91662	NLRP12	HP:0033050	Pharyngalgia	1/3	OMIM:611762
91662	NLRP12	HP:0000988	Skin rash	-	OMIM:611762
91662	NLRP12	HP:0002829	Arthralgia	9/10	OMIM:611762
91662	NLRP12	HP:0012219	Erythema nodosum	1/3	OMIM:611762
91662	NLRP12	HP:0000407	Sensorineural hearing impairment	2/3	OMIM:611762
91662	NLRP12	HP:0011107	Recurrent aphthous stomatitis	-	OMIM:611762
91662	NLRP12	HP:0001744	Splenomegaly	2/3	OMIM:611762
91662	NLRP12	HP:0011227	Elevated circulating C-reactive protein concentration	16/16	OMIM:611762
91662	NLRP12	HP:0012514	Lower limb pain	2/3	OMIM:611762
91754	NEK9	HP:0001181	Adducted thumb	2/4	OMIM:617022
91754	NEK9	HP:0002414	Spina bifida	HP:0040283	ORPHA:64754
91754	NEK9	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
91754	NEK9	HP:0001293	Cranial nerve compression	-	OMIM:131300
91754	NEK9	HP:0025258	Stiff neck	1/3	OMIM:617022
91754	NEK9	HP:0025249	Comedo	HP:0040281	ORPHA:64754
91754	NEK9	HP:0001250	Seizure	HP:0040283	ORPHA:64754
91754	NEK9	HP:0001252	Hypotonia	2/7	OMIM:615777
91754	NEK9	HP:0001249	Intellectual disability	5/7	OMIM:615777
91754	NEK9	HP:0001263	Global developmental delay	-	OMIM:615777
91754	NEK9	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:64754
91754	NEK9	HP:0002515	Waddling gait	54/102	OMIM:131300
91754	NEK9	HP:0025331	Upgaze palsy	3/3	OMIM:614262
91754	NEK9	HP:0001382	Joint hypermobility	-	OMIM:615777
91754	NEK9	HP:0002694	Sclerosis of skull base	-	OMIM:131300
91754	NEK9	HP:0008897	Postnatal growth retardation	-	OMIM:615777
91754	NEK9	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
91754	NEK9	HP:0001324	Muscle weakness	40/96	OMIM:131300
91754	NEK9	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
91754	NEK9	HP:0000007	Autosomal recessive inheritance	-	OMIM:617022
91754	NEK9	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
91754	NEK9	HP:0000007	Autosomal recessive inheritance	-	OMIM:614262
91754	NEK9	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
91754	NEK9	HP:0002650	Scoliosis	HP:0040283	ORPHA:64754
91754	NEK9	HP:0002650	Scoliosis	12/14	OMIM:131300
91754	NEK9	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
91754	NEK9	HP:0002623	Overriding aorta	1/5	OMIM:617022
91754	NEK9	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
91754	NEK9	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
91754	NEK9	HP:0000189	Narrow palate	1/4	OMIM:617022
91754	NEK9	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
91754	NEK9	HP:0000158	Macroglossia	1/4	OMIM:617022
91754	NEK9	HP:0000175	Cleft palate	2/7	OMIM:615777
91754	NEK9	HP:0001442	Typified by somatic mosaicism	-	OMIM:617025
91754	NEK9	HP:0002021	Pyloric stenosis	2/3	OMIM:614262
91754	NEK9	HP:0002089	Pulmonary hypoplasia	3/3	OMIM:617022
91754	NEK9	HP:0002099	Asthma	3/3	OMIM:614262
91754	NEK9	HP:0003388	Easy fatigability	36/76	OMIM:131300
91754	NEK9	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
91754	NEK9	HP:0003468	Abnormal vertebral morphology	HP:0040283	ORPHA:64754
91754	NEK9	HP:0010566	Hamartoma	HP:0040281	ORPHA:64754
91754	NEK9	HP:0010557	Overlapping fingers	2/4	OMIM:617022
91754	NEK9	HP:0003577	Congenital onset	3/3	OMIM:614262
91754	NEK9	HP:0003557	Increased variability in muscle fiber diameter	1/3	OMIM:617022
91754	NEK9	HP:0003510	Severe short stature	7/7	OMIM:615777
91754	NEK9	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:64754
91754	NEK9	HP:0001047	Atopic dermatitis	-	OMIM:614262
91754	NEK9	HP:0002315	Headache	-	OMIM:131300
91754	NEK9	HP:0004976	Knee dislocation	6/7	OMIM:615777
91754	NEK9	HP:0009803	Short phalanx of finger	-	OMIM:615777
91754	NEK9	HP:0009763	Limb pain	63/92	OMIM:131300
91754	NEK9	HP:0003621	Juvenile onset	-	OMIM:131300
91754	NEK9	HP:0020154	Nevus comedonicus	-	OMIM:617025
91754	NEK9	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
91754	NEK9	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
91754	NEK9	HP:6001056	Out-toeing	-	OMIM:131300
91754	NEK9	HP:0000651	Diplopia	-	OMIM:131300
91754	NEK9	HP:0001956	Truncal obesity	2/7	OMIM:615777
91754	NEK9	HP:0001903	Anemia	HP:0040283	OMIM:131300
91754	NEK9	HP:0010049	Short metacarpal	-	OMIM:615777
91754	NEK9	HP:0000678	Dental crowding	-	OMIM:615777
91754	NEK9	HP:0001989	Fetal akinesia sequence	1/5	OMIM:617022
91754	NEK9	HP:0000670	Carious teeth	-	OMIM:131300
91754	NEK9	HP:0011304	Broad thumb	2/7	OMIM:615777
91754	NEK9	HP:0000668	Hypodontia	-	OMIM:615777
91754	NEK9	HP:0000664	Synophrys	-	OMIM:615777
91754	NEK9	HP:0030674	Antenatal onset	5/5	OMIM:617022
91754	NEK9	HP:0004396	Poor appetite	-	OMIM:131300
91754	NEK9	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
91754	NEK9	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
91754	NEK9	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
91754	NEK9	HP:0003026	Short long bone	4/4	OMIM:617022
91754	NEK9	HP:0003026	Short long bone	7/7	OMIM:615777
91754	NEK9	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
91754	NEK9	HP:0000767	Pectus excavatum	2/7	OMIM:615777
91754	NEK9	HP:0000768	Pectus carinatum	1/7	OMIM:615777
91754	NEK9	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
91754	NEK9	HP:0000750	Delayed speech and language development	-	OMIM:615777
91754	NEK9	HP:0011461	Fetal onset	7/7	OMIM:615777
91754	NEK9	HP:0000778	Hypoplasia of the thymus	2/4	OMIM:617022
91754	NEK9	HP:0000774	Narrow chest	1/2	OMIM:617022
91754	NEK9	HP:0000774	Narrow chest	2/7	OMIM:615777
91754	NEK9	HP:0005743	Avascular necrosis of the capital femoral epiphysis	3/3	OMIM:614262
91754	NEK9	HP:0000926	Platyspondyly	1/7	OMIM:615777
91754	NEK9	HP:0003180	Flat acetabular roof	-	OMIM:615777
91754	NEK9	HP:0004482	Relative macrocephaly	-	OMIM:615777
91754	NEK9	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
91754	NEK9	HP:0000885	Broad ribs	2/4	OMIM:617022
91754	NEK9	HP:0000823	Delayed puberty	-	OMIM:131300
91754	NEK9	HP:0000894	Short clavicles	-	OMIM:615777
91754	NEK9	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
91754	NEK9	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:64754
91754	NEK9	HP:0100258	Preaxial polydactyly	HP:0040283	ORPHA:64754
91754	NEK9	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
91754	NEK9	HP:0008064	Ichthyosis	HP:0040283	ORPHA:64754
91754	NEK9	HP:0000286	Epicanthus	1/7	OMIM:615777
91754	NEK9	HP:0000280	Coarse facial features	2/7	OMIM:615777
91754	NEK9	HP:0000293	Full cheeks	-	OMIM:614262
91754	NEK9	HP:0001595	Abnormal hair morphology	HP:0040283	ORPHA:64754
91754	NEK9	HP:0002827	Hip dislocation	3/7	OMIM:615777
91754	NEK9	HP:0002804	Arthrogryposis multiplex congenita	3/3	OMIM:614262
91754	NEK9	HP:0000252	Microcephaly	HP:0040283	ORPHA:64754
91754	NEK9	HP:0000252	Microcephaly	-	OMIM:615777
91754	NEK9	HP:0000218	High palate	1/4	OMIM:617022
91754	NEK9	HP:0001562	Oligohydramnios	1/5	OMIM:617022
91754	NEK9	HP:0002857	Genu valgum	-	OMIM:131300
91754	NEK9	HP:0001539	Omphalocele	1/5	OMIM:617022
91754	NEK9	HP:0001533	Slender build	-	OMIM:131300
91754	NEK9	HP:0001511	Intrauterine growth retardation	2/5	OMIM:617022
91754	NEK9	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
91754	NEK9	HP:0007807	Optic nerve compression	-	OMIM:131300
91754	NEK9	HP:0012385	Camptodactyly	2/3	OMIM:614262
91754	NEK9	HP:0012368	Flat face	7/7	OMIM:615777
91754	NEK9	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
91754	NEK9	HP:0002943	Thoracic scoliosis	1/2	OMIM:617022
91754	NEK9	HP:0000365	Hearing impairment	10/67	OMIM:131300
91754	NEK9	HP:0000369	Low-set ears	1/4	OMIM:617022
91754	NEK9	HP:0000343	Long philtrum	3/4	OMIM:617022
91754	NEK9	HP:0000343	Long philtrum	1/7	OMIM:615777
91754	NEK9	HP:0011001	Increased bone mineral density	-	OMIM:131300
91754	NEK9	HP:0000347	Micrognathia	3/4	OMIM:617022
91754	NEK9	HP:0002980	Femoral bowing	1/4	OMIM:617022
91754	NEK9	HP:0000311	Round face	2/7	OMIM:615777
91754	NEK9	HP:0001642	Pulmonic stenosis	2/3	OMIM:614262
91754	NEK9	HP:0001629	Ventricular septal defect	1/3	OMIM:614262
91754	NEK9	HP:0001629	Ventricular septal defect	2/4	OMIM:617022
91754	NEK9	HP:0001640	Cardiomegaly	1/3	OMIM:617022
91754	NEK9	HP:0002970	Genu varum	-	OMIM:615777
91754	NEK9	HP:0001631	Atrial septal defect	1/3	OMIM:614262
91754	NEK9	HP:0000303	Mandibular prognathia	-	OMIM:131300
91754	NEK9	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
91754	NEK9	HP:0000494	Downslanted palpebral fissures	1/4	OMIM:617022
91754	NEK9	HP:0001789	Hydrops fetalis	1/5	OMIM:617022
91754	NEK9	HP:0000473	Torticollis	1/3	OMIM:617022
91754	NEK9	HP:0000470	Short neck	3/3	OMIM:617022
91754	NEK9	HP:0000470	Short neck	1/7	OMIM:615777
91754	NEK9	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:64754
91754	NEK9	HP:0001769	Broad foot	HP:0040283	OMIM:615777
91754	NEK9	HP:0001763	Pes planus	1/7	OMIM:615777
91754	NEK9	HP:0000444	Convex nasal ridge	1/4	OMIM:617022
91754	NEK9	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:64754
91754	NEK9	HP:0001762	Talipes equinovarus	4/4	OMIM:617022
91754	NEK9	HP:0000518	Cataract	HP:0040283	ORPHA:64754
91754	NEK9	HP:0001845	Overlapping toe	1/3	OMIM:614262
91754	NEK9	HP:0001840	Metatarsus adductus	-	OMIM:615777
91754	NEK9	HP:0000520	Proptosis	2/4	OMIM:131300
91754	NEK9	HP:0000520	Proptosis	7/7	OMIM:615777
91754	NEK9	HP:0000592	Blue sclerae	2/7	OMIM:615777
91754	NEK9	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
91754	NEK9	HP:0012514	Lower limb pain	4/4	OMIM:131300
91801	ALKBH8	HP:0001250	Seizure	6/7	OMIM:618504
91801	ALKBH8	HP:0001249	Intellectual disability	7/7	OMIM:618504
91801	ALKBH8	HP:0001263	Global developmental delay	7/7	OMIM:618504
91801	ALKBH8	HP:0000054	Micropenis	1/6	OMIM:618504
91801	ALKBH8	HP:0000028	Cryptorchidism	1/6	OMIM:618504
91801	ALKBH8	HP:0000007	Autosomal recessive inheritance	-	OMIM:618504
91801	ALKBH8	HP:0000122	Unilateral renal agenesis	1/7	OMIM:618504
91801	ALKBH8	HP:0034454	Arachnoid granulation	1/3	OMIM:618504
91801	ALKBH8	HP:0007018	Attention deficit hyperactivity disorder	2/7	OMIM:618504
91801	ALKBH8	HP:0001090	Abnormally large globe	1/7	OMIM:618504
91801	ALKBH8	HP:0004392	Prune belly	2/7	OMIM:618504
91801	ALKBH8	HP:0000733	Motor stereotypy	1/6	OMIM:618504
91801	ALKBH8	HP:0000256	Macrocephaly	2/7	OMIM:618504
91801	ALKBH8	HP:0000276	Long face	2/7	OMIM:618504
91801	ALKBH8	HP:0011094	Increased overbite	1/7	OMIM:618504
91801	ALKBH8	HP:0001629	Ventricular septal defect	1/7	OMIM:618504
91801	ALKBH8	HP:0000400	Macrotia	2/7	OMIM:618504
91801	ALKBH8	HP:0000490	Deeply set eye	1/6	OMIM:618504
91851	CHRDL1	HP:0001132	Lens subluxation	-	OMIM:309300
91851	CHRDL1	HP:0007663	Reduced visual acuity	16/16	OMIM:309300
91851	CHRDL1	HP:0001419	X-linked recessive inheritance	-	OMIM:309300
91851	CHRDL1	HP:0001084	Corneal arcus	10/16	OMIM:309300
91851	CHRDL1	HP:0100693	Iridodonesis	-	OMIM:309300
91851	CHRDL1	HP:0100689	Decreased corneal thickness	-	OMIM:309300
91851	CHRDL1	HP:0000616	Miosis	-	OMIM:309300
91851	CHRDL1	HP:0012632	Abnormal intraocular pressure	0/8	OMIM:309300
91851	CHRDL1	HP:0012805	Iris transillumination defect	8/8	OMIM:309300
91851	CHRDL1	HP:0007765	Deep anterior chamber	-	OMIM:309300
91851	CHRDL1	HP:0007836	Mosaic corneal dystrophy	-	OMIM:309300
91851	CHRDL1	HP:0000483	Astigmatism	-	OMIM:309300
91851	CHRDL1	HP:0000485	Megalocornea	16/16	OMIM:309300
91851	CHRDL1	HP:0000518	Cataract	-	OMIM:309300
91851	CHRDL1	HP:0000501	Glaucoma	-	OMIM:309300
91851	CHRDL1	HP:0000541	Retinal detachment	HP:0040283	OMIM:309300
91869	RFT1	HP:0001181	Adducted thumb	2/2	OMIM:612015
91869	RFT1	HP:0010864	Intellectual disability, severe	3/3	OMIM:612015
91869	RFT1	HP:0002401	Stroke-like episode	HP:0040283	ORPHA:244310
91869	RFT1	HP:0001250	Seizure	HP:0040280	ORPHA:244310
91869	RFT1	HP:0001250	Seizure	4/4	OMIM:612015
91869	RFT1	HP:0001252	Hypotonia	HP:0040280	ORPHA:244310
91869	RFT1	HP:0001252	Hypotonia	4/4	OMIM:612015
91869	RFT1	HP:0001251	Ataxia	HP:0040283	ORPHA:244310
91869	RFT1	HP:0001251	Ataxia	-	OMIM:612015
91869	RFT1	HP:0001263	Global developmental delay	HP:0040280	ORPHA:244310
91869	RFT1	HP:0001263	Global developmental delay	1/1	OMIM:612015
91869	RFT1	HP:0001257	Spasticity	-	OMIM:612015
91869	RFT1	HP:0001347	Hyperreflexia	-	OMIM:612015
91869	RFT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612015
91869	RFT1	HP:0001336	Myoclonus	3/3	OMIM:612015
91869	RFT1	HP:0007663	Reduced visual acuity	3/3	OMIM:612015
91869	RFT1	HP:0002783	Recurrent lower respiratory tract infections	2/3	OMIM:612015
91869	RFT1	HP:0002093	Respiratory insufficiency	2/3	OMIM:612015
91869	RFT1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:244310
91869	RFT1	HP:0002059	Cerebral atrophy	1/3	OMIM:612015
91869	RFT1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:244310
91869	RFT1	HP:0003593	Infantile onset	3/3	OMIM:612015
91869	RFT1	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:244310
91869	RFT1	HP:0002240	Hepatomegaly	1/1	OMIM:612015
91869	RFT1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:244310
91869	RFT1	HP:0011968	Feeding difficulties	3/3	OMIM:612015
91869	RFT1	HP:0007146	Bilateral basal ganglia lesions	HP:0040283	ORPHA:244310
91869	RFT1	HP:0003642	Type I transferrin isoform profile	3/3	OMIM:612015
91869	RFT1	HP:0001977	Abnormal thrombosis	HP:0040282	ORPHA:244310
91869	RFT1	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:244310
91869	RFT1	HP:0004322	Short stature	HP:0040282	ORPHA:244310
91869	RFT1	HP:0004322	Short stature	-	OMIM:612015
91869	RFT1	HP:0003186	Inverted nipples	2/3	OMIM:612015
91869	RFT1	HP:0003186	Inverted nipples	HP:0040282	ORPHA:244310
91869	RFT1	HP:0030890	Hyperintensity of cerebral white matter on MRI	HP:0040283	ORPHA:244310
91869	RFT1	HP:0003256	Abnormality of the coagulation cascade	-	OMIM:612015
91869	RFT1	HP:0000932	Abnormal posterior cranial fossa morphology	HP:0040283	ORPHA:244310
91869	RFT1	HP:0008081	Pes valgus	3/3	OMIM:612015
91869	RFT1	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:244310
91869	RFT1	HP:0000252	Microcephaly	HP:0040282	ORPHA:244310
91869	RFT1	HP:0000252	Microcephaly	2/3	OMIM:612015
91869	RFT1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:244310
91869	RFT1	HP:0001508	Failure to thrive	3/3	OMIM:612015
91869	RFT1	HP:0000365	Hearing impairment	HP:0040281	ORPHA:244310
91869	RFT1	HP:0000347	Micrognathia	2/3	OMIM:612015
91869	RFT1	HP:0000407	Sensorineural hearing impairment	3/3	OMIM:612015
91869	RFT1	HP:0000470	Short neck	2/3	OMIM:612015
91869	RFT1	HP:0000505	Visual impairment	HP:0040282	ORPHA:244310
91869	RFT1	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:244310
91875	TTC5	HP:0009879	Simplified gyral pattern	7/8	OMIM:619244
91875	TTC5	HP:0001274	Agenesis of corpus callosum	1/8	OMIM:619244
91875	TTC5	HP:0001250	Seizure	1/11	OMIM:619244
91875	TTC5	HP:0001252	Hypotonia	6/8	OMIM:619244
91875	TTC5	HP:0001249	Intellectual disability	10/10	OMIM:619244
91875	TTC5	HP:0007371	Corpus callosum atrophy	7/8	OMIM:619244
91875	TTC5	HP:0002553	Highly arched eyebrow	1/8	OMIM:619244
91875	TTC5	HP:0025336	Delayed ability to sit	8/9	OMIM:619244
91875	TTC5	HP:0025335	Delayed ability to stand	10/11	OMIM:619244
91875	TTC5	HP:0000028	Cryptorchidism	2/5	OMIM:619244
91875	TTC5	HP:0001344	Absent speech	6/11	OMIM:619244
91875	TTC5	HP:0000007	Autosomal recessive inheritance	-	OMIM:619244
91875	TTC5	HP:0002059	Cerebral atrophy	8/8	OMIM:619244
91875	TTC5	HP:0003577	Congenital onset	11/11	OMIM:619244
91875	TTC5	HP:0002224	Woolly hair	1/8	OMIM:619244
91875	TTC5	HP:0007082	Dilated third ventricle	1/8	OMIM:619244
91875	TTC5	HP:0002360	Sleep abnormality	2/8	OMIM:619244
91875	TTC5	HP:0001007	Hirsutism	1/8	OMIM:619244
91875	TTC5	HP:0002352	Leukoencephalopathy	1/8	OMIM:619244
91875	TTC5	HP:0010804	Tented upper lip vermilion	4/8	OMIM:619244
91875	TTC5	HP:0006956	Lateral ventricle dilatation	7/8	OMIM:619244
91875	TTC5	HP:0000750	Delayed speech and language development	11/11	OMIM:619244
91875	TTC5	HP:0000718	Aggressive behavior	2/8	OMIM:619244
91875	TTC5	HP:0000729	Autistic behavior	2/11	OMIM:619244
91875	TTC5	HP:0000958	Dry skin	2/8	OMIM:619244
91875	TTC5	HP:0000294	Low anterior hairline	1/8	OMIM:619244
91875	TTC5	HP:0000276	Long face	1/8	OMIM:619244
91875	TTC5	HP:0002808	Kyphosis	1/8	OMIM:619244
91875	TTC5	HP:0000252	Microcephaly	6/11	OMIM:619244
91875	TTC5	HP:0000248	Brachycephaly	1/8	OMIM:619244
91875	TTC5	HP:0000219	Thin upper lip vermilion	5/8	OMIM:619244
91875	TTC5	HP:0000218	High palate	2/8	OMIM:619244
91875	TTC5	HP:0000369	Low-set ears	3/8	OMIM:619244
91875	TTC5	HP:0000343	Long philtrum	1/8	OMIM:619244
91875	TTC5	HP:0000337	Broad forehead	2/8	OMIM:619244
91875	TTC5	HP:0000322	Short philtrum	2/8	OMIM:619244
91875	TTC5	HP:0000307	Pointed chin	1/8	OMIM:619244
91875	TTC5	HP:0006610	Wide intermamillary distance	3/6	OMIM:619244
91875	TTC5	HP:0000448	Prominent nose	1/8	OMIM:619244
91875	TTC5	HP:0011229	Broad eyebrow	2/8	OMIM:619244
91942	NDUFAF2	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
91942	NDUFAF2	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0002490	Increased CSF lactate	1/1	OMIM:618233
91942	NDUFAF2	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0001298	Encephalopathy	-	OMIM:618233
91942	NDUFAF2	HP:0001284	Areflexia	1/1	OMIM:618233
91942	NDUFAF2	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0001250	Seizure	HP:0040284	OMIM:618233
91942	NDUFAF2	HP:0001252	Hypotonia	1/1	OMIM:618233
91942	NDUFAF2	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0001251	Ataxia	1/1	OMIM:618233
91942	NDUFAF2	HP:0001265	Hyporeflexia	1/1	OMIM:618233
91942	NDUFAF2	HP:0001263	Global developmental delay	1/1	OMIM:618233
91942	NDUFAF2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618233
91942	NDUFAF2	HP:0001310	Dysmetria	-	OMIM:618233
91942	NDUFAF2	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0002015	Dysphagia	1/1	OMIM:618233
91942	NDUFAF2	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0002136	Broad-based gait	1/1	OMIM:618233
91942	NDUFAF2	HP:0002104	Apnea	-	OMIM:618233
91942	NDUFAF2	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
91942	NDUFAF2	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:618233
91942	NDUFAF2	HP:0010535	Sleep apnea	1/1	OMIM:618233
91942	NDUFAF2	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
91942	NDUFAF2	HP:0011968	Feeding difficulties	1/1	OMIM:618233
91942	NDUFAF2	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0003676	Progressive	-	OMIM:618233
91942	NDUFAF2	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0002352	Leukoencephalopathy	-	OMIM:618233
91942	NDUFAF2	HP:0007110	Central hypoventilation	-	OMIM:618233
91942	NDUFAF2	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0000639	Nystagmus	1/1	OMIM:618233
91942	NDUFAF2	HP:0000648	Optic atrophy	1/1	OMIM:618233
91942	NDUFAF2	HP:0000618	Blindness	HP:0040283	ORPHA:2609
91942	NDUFAF2	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0000666	Horizontal nystagmus	1/1	OMIM:618233
91942	NDUFAF2	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0011463	Childhood onset	1/1	OMIM:618233
91942	NDUFAF2	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
91942	NDUFAF2	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
91942	NDUFAF2	HP:0002878	Respiratory failure	1/1	OMIM:618233
91942	NDUFAF2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
91942	NDUFAF2	HP:0000544	External ophthalmoplegia	HP:0040284	OMIM:618233
91949	COG7	HP:0001181	Adducted thumb	3/3	OMIM:608779
91949	COG7	HP:0001181	Adducted thumb	HP:0040283	ORPHA:79333
91949	COG7	HP:0001167	Abnormal finger morphology	HP:0040282	ORPHA:79333
91949	COG7	HP:0001290	Generalized hypotonia	2/2	OMIM:608779
91949	COG7	HP:0100807	Long fingers	HP:0040283	ORPHA:79333
91949	COG7	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:79333
91949	COG7	HP:0001272	Cerebellar atrophy	2/3	OMIM:608779
91949	COG7	HP:0001284	Areflexia	HP:0040282	ORPHA:79333
91949	COG7	HP:0001250	Seizure	4/5	OMIM:608779
91949	COG7	HP:0001250	Seizure	HP:0040282	ORPHA:79333
91949	COG7	HP:0001252	Hypotonia	3/3	OMIM:608779
91949	COG7	HP:0001252	Hypotonia	HP:0040281	ORPHA:79333
91949	COG7	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:79333
91949	COG7	HP:0001265	Hyporeflexia	-	OMIM:608779
91949	COG7	HP:0007392	Excessive wrinkled skin	5/5	OMIM:608779
91949	COG7	HP:0007392	Excessive wrinkled skin	HP:0040282	ORPHA:79333
91949	COG7	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:79333
91949	COG7	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:79333
91949	COG7	HP:0000011	Neurogenic bladder	-	OMIM:608779
91949	COG7	HP:0000007	Autosomal recessive inheritance	-	OMIM:608779
91949	COG7	HP:0000160	Narrow mouth	HP:0040283	ORPHA:79333
91949	COG7	HP:0000160	Narrow mouth	3/3	OMIM:608779
91949	COG7	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:79333
91949	COG7	HP:0000126	Hydronephrosis	1/3	OMIM:608779
91949	COG7	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:79333
91949	COG7	HP:0001410	Decreased liver function	-	OMIM:608779
91949	COG7	HP:0002719	Recurrent infections	HP:0040281	ORPHA:79333
91949	COG7	HP:0002719	Recurrent infections	1/2	OMIM:608779
91949	COG7	HP:0002020	Gastroesophageal reflux	-	OMIM:608779
91949	COG7	HP:0002014	Diarrhea	HP:0040282	ORPHA:79333
91949	COG7	HP:0002093	Respiratory insufficiency	-	OMIM:608779
91949	COG7	HP:0002079	Hypoplasia of the corpus callosum	3/3	OMIM:608779
91949	COG7	HP:0002059	Cerebral atrophy	3/3	OMIM:608779
91949	COG7	HP:0010557	Overlapping fingers	3/3	OMIM:608779
91949	COG7	HP:0003577	Congenital onset	5/5	OMIM:608779
91949	COG7	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:79333
91949	COG7	HP:0002240	Hepatomegaly	2/2	OMIM:608779
91949	COG7	HP:0011968	Feeding difficulties	2/3	OMIM:608779
91949	COG7	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:79333
91949	COG7	HP:0010808	Protruding tongue	-	OMIM:608779
91949	COG7	HP:0001943	Hypoglycemia	1/3	OMIM:608779
91949	COG7	HP:0001954	Recurrent fever	HP:0040281	ORPHA:79333
91949	COG7	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:79333
91949	COG7	HP:0004322	Short stature	-	OMIM:608779
91949	COG7	HP:0031956	Elevated circulating aspartate aminotransferase concentration	3/3	OMIM:608779
91949	COG7	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/3	OMIM:608779
91949	COG7	HP:0012745	Short palpebral fissure	-	OMIM:608779
91949	COG7	HP:0012736	Profound global developmental delay	-	OMIM:608779
91949	COG7	HP:0011451	Primary microcephaly	2/3	OMIM:608779
91949	COG7	HP:0011451	Primary microcephaly	HP:0040282	ORPHA:79333
91949	COG7	HP:0012768	Neonatal asphyxia	2/2	OMIM:608779
91949	COG7	HP:0004425	Flat forehead	-	OMIM:608779
91949	COG7	HP:0003196	Short nose	-	OMIM:608779
91949	COG7	HP:0003186	Inverted nipples	-	OMIM:608779
91949	COG7	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:79333
91949	COG7	HP:0003236	Elevated circulating creatine kinase concentration	3/3	OMIM:608779
91949	COG7	HP:0003202	Skeletal muscle atrophy	-	OMIM:608779
91949	COG7	HP:0000998	Hypertrichosis	1/3	OMIM:608779
91949	COG7	HP:0000952	Jaundice	HP:0040282	ORPHA:79333
91949	COG7	HP:0000952	Jaundice	2/2	OMIM:608779
91949	COG7	HP:0011682	Perimembranous ventricular septal defect	2/3	OMIM:608779
91949	COG7	HP:0000278	Retrognathia	HP:0040283	ORPHA:79333
91949	COG7	HP:0000278	Retrognathia	3/3	OMIM:608779
91949	COG7	HP:0000294	Low anterior hairline	1/3	OMIM:608779
91949	COG7	HP:0000253	Progressive microcephaly	3/3	OMIM:608779
91949	COG7	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:79333
91949	COG7	HP:0001522	Death in infancy	5/5	OMIM:608779
91949	COG7	HP:0001508	Failure to thrive	3/3	OMIM:608779
91949	COG7	HP:0001508	Failure to thrive	HP:0040281	ORPHA:79333
91949	COG7	HP:0001518	Small for gestational age	HP:0040282	ORPHA:79333
91949	COG7	HP:0001511	Intrauterine growth retardation	-	OMIM:608779
91949	COG7	HP:0001510	Growth delay	-	OMIM:608779
91949	COG7	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:79333
91949	COG7	HP:0000369	Low-set ears	2/2	OMIM:608779
91949	COG7	HP:0000341	Narrow forehead	3/3	OMIM:608779
91949	COG7	HP:0001684	Secundum atrial septal defect	2/3	OMIM:608779
91949	COG7	HP:0000347	Micrognathia	5/5	OMIM:608779
91949	COG7	HP:0000347	Micrognathia	HP:0040283	ORPHA:79333
91949	COG7	HP:0012301	Type II transferrin isoform profile	4/4	OMIM:608779
91949	COG7	HP:0012301	Type II transferrin isoform profile	HP:0040281	ORPHA:79333
91949	COG7	HP:0000319	Smooth philtrum	-	OMIM:608779
91949	COG7	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:79333
91949	COG7	HP:0001635	Congestive heart failure	1/2	OMIM:608779
91949	COG7	HP:0000407	Sensorineural hearing impairment	1/3	OMIM:608779
91949	COG7	HP:0012471	Thick vermilion border	-	OMIM:608779
91949	COG7	HP:0012448	Delayed myelination	-	OMIM:608779
91949	COG7	HP:0012444	Brain atrophy	HP:0040281	ORPHA:79333
91949	COG7	HP:0000470	Short neck	HP:0040283	ORPHA:79333
91949	COG7	HP:0000470	Short neck	5/5	OMIM:608779
91949	COG7	HP:0000445	Wide nose	-	OMIM:608779
91949	COG7	HP:0001744	Splenomegaly	2/2	OMIM:608779
91949	COG7	HP:0000582	Upslanted palpebral fissure	-	OMIM:608779
92002	CCNQ	HP:0001153	Septate vagina	2/6	OMIM:300707
92002	CCNQ	HP:0009921	Duane anomaly	1/1	OMIM:300707
92002	CCNQ	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
92002	CCNQ	HP:0001293	Cranial nerve compression	-	OMIM:131300
92002	CCNQ	HP:0001250	Seizure	HP:0040283	ORPHA:140952
92002	CCNQ	HP:0001252	Hypotonia	2/7	OMIM:615777
92002	CCNQ	HP:0001249	Intellectual disability	5/7	OMIM:615777
92002	CCNQ	HP:0001263	Global developmental delay	-	OMIM:615777
92002	CCNQ	HP:0008665	Clitoral hypertrophy	3/7	OMIM:300707
92002	CCNQ	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:140952
92002	CCNQ	HP:0002515	Waddling gait	54/102	OMIM:131300
92002	CCNQ	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:140952
92002	CCNQ	HP:0000086	Ectopic kidney	HP:0040282	ORPHA:140952
92002	CCNQ	HP:0000085	Horseshoe kidney	HP:0040282	ORPHA:140952
92002	CCNQ	HP:0000066	Labial hypoplasia	HP:0040282	ORPHA:140952
92002	CCNQ	HP:0000066	Labial hypoplasia	4/6	OMIM:300707
92002	CCNQ	HP:0000076	Vesicoureteral reflux	4/6	OMIM:300707
92002	CCNQ	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:140952
92002	CCNQ	HP:0000072	Hydroureter	1/6	OMIM:300707
92002	CCNQ	HP:0001382	Joint hypermobility	1/1	OMIM:300707
92002	CCNQ	HP:0001382	Joint hypermobility	-	OMIM:615777
92002	CCNQ	HP:0001363	Craniosynostosis	2/6	OMIM:300707
92002	CCNQ	HP:0002694	Sclerosis of skull base	-	OMIM:131300
92002	CCNQ	HP:0008897	Postnatal growth retardation	-	OMIM:615777
92002	CCNQ	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
92002	CCNQ	HP:0001324	Muscle weakness	40/96	OMIM:131300
92002	CCNQ	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
92002	CCNQ	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
92002	CCNQ	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
92002	CCNQ	HP:0002650	Scoliosis	12/14	OMIM:131300
92002	CCNQ	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
92002	CCNQ	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
92002	CCNQ	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
92002	CCNQ	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
92002	CCNQ	HP:0000175	Cleft palate	2/7	OMIM:615777
92002	CCNQ	HP:0000143	Rectovaginal fistula	2/7	OMIM:300707
92002	CCNQ	HP:0000125	Pelvic kidney	1/6	OMIM:300707
92002	CCNQ	HP:0000126	Hydronephrosis	2/6	OMIM:300707
92002	CCNQ	HP:0001423	X-linked dominant inheritance	-	OMIM:300707
92002	CCNQ	HP:0000104	Renal agenesis	HP:0040282	ORPHA:140952
92002	CCNQ	HP:0002023	Anal atresia	7/7	OMIM:300707
92002	CCNQ	HP:0002023	Anal atresia	HP:0040281	ORPHA:140952
92002	CCNQ	HP:0004692	4-5 toe syndactyly	1/1	OMIM:300707
92002	CCNQ	HP:0003396	Syringomyelia	HP:0040283	ORPHA:140952
92002	CCNQ	HP:0003388	Easy fatigability	36/76	OMIM:131300
92002	CCNQ	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
92002	CCNQ	HP:0004736	Crossed fused renal ectopia	1/6	OMIM:300707
92002	CCNQ	HP:0003577	Congenital onset	7/7	OMIM:300707
92002	CCNQ	HP:0010716	3-5 toe syndactyly	1/1	OMIM:300707
92002	CCNQ	HP:0003510	Severe short stature	7/7	OMIM:615777
92002	CCNQ	HP:0002315	Headache	-	OMIM:131300
92002	CCNQ	HP:0004976	Knee dislocation	6/7	OMIM:615777
92002	CCNQ	HP:0009803	Short phalanx of finger	-	OMIM:615777
92002	CCNQ	HP:0009779	3-4 toe syndactyly	1/1	OMIM:300707
92002	CCNQ	HP:0009763	Limb pain	63/92	OMIM:131300
92002	CCNQ	HP:0004969	Peripheral pulmonary artery stenosis	1/6	OMIM:300707
92002	CCNQ	HP:0003621	Juvenile onset	-	OMIM:131300
92002	CCNQ	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
92002	CCNQ	HP:0004209	Clinodactyly of the 5th finger	6/6	OMIM:300707
92002	CCNQ	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:140952
92002	CCNQ	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
92002	CCNQ	HP:6001056	Out-toeing	-	OMIM:131300
92002	CCNQ	HP:0000651	Diplopia	-	OMIM:131300
92002	CCNQ	HP:0000625	Eyelid coloboma	HP:0040283	ORPHA:140952
92002	CCNQ	HP:0001956	Truncal obesity	2/7	OMIM:615777
92002	CCNQ	HP:0001903	Anemia	HP:0040283	OMIM:131300
92002	CCNQ	HP:0010049	Short metacarpal	-	OMIM:615777
92002	CCNQ	HP:0000678	Dental crowding	-	OMIM:615777
92002	CCNQ	HP:0000670	Carious teeth	-	OMIM:131300
92002	CCNQ	HP:0011304	Broad thumb	2/7	OMIM:615777
92002	CCNQ	HP:0000668	Hypodontia	-	OMIM:615777
92002	CCNQ	HP:0000664	Synophrys	-	OMIM:615777
92002	CCNQ	HP:0004322	Short stature	4/6	OMIM:300707
92002	CCNQ	HP:0004322	Short stature	HP:0040281	ORPHA:140952
92002	CCNQ	HP:0004396	Poor appetite	-	OMIM:131300
92002	CCNQ	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
92002	CCNQ	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
92002	CCNQ	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
92002	CCNQ	HP:0003026	Short long bone	7/7	OMIM:615777
92002	CCNQ	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
92002	CCNQ	HP:0000767	Pectus excavatum	2/7	OMIM:615777
92002	CCNQ	HP:0000768	Pectus carinatum	1/7	OMIM:615777
92002	CCNQ	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
92002	CCNQ	HP:0000750	Delayed speech and language development	-	OMIM:615777
92002	CCNQ	HP:0011461	Fetal onset	7/7	OMIM:615777
92002	CCNQ	HP:0000774	Narrow chest	2/7	OMIM:615777
92002	CCNQ	HP:0004415	Pulmonary artery stenosis	HP:0040283	ORPHA:140952
92002	CCNQ	HP:0000926	Platyspondyly	1/7	OMIM:615777
92002	CCNQ	HP:0003180	Flat acetabular roof	-	OMIM:615777
92002	CCNQ	HP:0004482	Relative macrocephaly	-	OMIM:615777
92002	CCNQ	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
92002	CCNQ	HP:0000813	Bicornuate uterus	3/7	OMIM:300707
92002	CCNQ	HP:0000813	Bicornuate uterus	HP:0040282	ORPHA:140952
92002	CCNQ	HP:0000823	Delayed puberty	-	OMIM:131300
92002	CCNQ	HP:0011560	Mitral atresia	HP:0040283	ORPHA:140952
92002	CCNQ	HP:0000894	Short clavicles	-	OMIM:615777
92002	CCNQ	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
92002	CCNQ	HP:0003298	Spina bifida occulta	1/1	OMIM:300707
92002	CCNQ	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
92002	CCNQ	HP:0000954	Single transverse palmar crease	1/1	OMIM:300707
92002	CCNQ	HP:0034350	Valvular pulmonary stenosis	1/6	OMIM:300707
92002	CCNQ	HP:0000286	Epicanthus	1/7	OMIM:615777
92002	CCNQ	HP:0000280	Coarse facial features	2/7	OMIM:615777
92002	CCNQ	HP:0007754	Macular dystrophy	HP:0040283	ORPHA:140952
92002	CCNQ	HP:0002827	Hip dislocation	3/7	OMIM:615777
92002	CCNQ	HP:0000252	Microcephaly	-	OMIM:615777
92002	CCNQ	HP:0000219	Thin upper lip vermilion	-	OMIM:300707
92002	CCNQ	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:140952
92002	CCNQ	HP:0002857	Genu valgum	-	OMIM:131300
92002	CCNQ	HP:0001533	Slender build	-	OMIM:131300
92002	CCNQ	HP:0001518	Small for gestational age	1/6	OMIM:300707
92002	CCNQ	HP:0001511	Intrauterine growth retardation	1/6	OMIM:300707
92002	CCNQ	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
92002	CCNQ	HP:0007807	Optic nerve compression	-	OMIM:131300
92002	CCNQ	HP:0012368	Flat face	7/7	OMIM:615777
92002	CCNQ	HP:0000394	Lop ear	HP:0040281	ORPHA:140952
92002	CCNQ	HP:0000394	Lop ear	4/6	OMIM:300707
92002	CCNQ	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
92002	CCNQ	HP:0000365	Hearing impairment	10/67	OMIM:131300
92002	CCNQ	HP:0011003	High myopia	1/6	OMIM:300707
92002	CCNQ	HP:0000369	Low-set ears	1/6	OMIM:300707
92002	CCNQ	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:140952
92002	CCNQ	HP:0000343	Long philtrum	1/7	OMIM:615777
92002	CCNQ	HP:0011001	Increased bone mineral density	-	OMIM:131300
92002	CCNQ	HP:0000337	Broad forehead	-	OMIM:300707
92002	CCNQ	HP:0001647	Bicuspid aortic valve	1/6	OMIM:300707
92002	CCNQ	HP:0000311	Round face	2/7	OMIM:615777
92002	CCNQ	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:140952
92002	CCNQ	HP:0002984	Hypoplasia of the radius	HP:0040283	ORPHA:140952
92002	CCNQ	HP:0001655	Patent foramen ovale	1/6	OMIM:300707
92002	CCNQ	HP:0002970	Genu varum	-	OMIM:615777
92002	CCNQ	HP:0001631	Atrial septal defect	1/6	OMIM:300707
92002	CCNQ	HP:0000303	Mandibular prognathia	-	OMIM:131300
92002	CCNQ	HP:0005343	Hypoplasia of the bladder	1/6	OMIM:300707
92002	CCNQ	HP:0005280	Depressed nasal bridge	1/1	OMIM:300707
92002	CCNQ	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
92002	CCNQ	HP:0000460	Narrow nose	-	OMIM:300707
92002	CCNQ	HP:0000455	Broad nasal tip	-	OMIM:300707
92002	CCNQ	HP:0000470	Short neck	1/7	OMIM:615777
92002	CCNQ	HP:0001770	Toe syndactyly	6/6	OMIM:300707
92002	CCNQ	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:140952
92002	CCNQ	HP:0001769	Broad foot	HP:0040283	OMIM:615777
92002	CCNQ	HP:0001763	Pes planus	1/7	OMIM:615777
92002	CCNQ	HP:0000445	Wide nose	1/1	OMIM:300707
92002	CCNQ	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:300707
92002	CCNQ	HP:0000414	Bulbous nose	HP:0040282	ORPHA:140952
92002	CCNQ	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:140952
92002	CCNQ	HP:0001840	Metatarsus adductus	-	OMIM:615777
92002	CCNQ	HP:0000520	Proptosis	2/4	OMIM:131300
92002	CCNQ	HP:0000520	Proptosis	7/7	OMIM:615777
92002	CCNQ	HP:0000506	Telecanthus	HP:0040282	ORPHA:140952
92002	CCNQ	HP:0000506	Telecanthus	5/7	OMIM:300707
92002	CCNQ	HP:0000592	Blue sclerae	2/7	OMIM:615777
92002	CCNQ	HP:0000556	Retinal dystrophy	HP:0040283	ORPHA:140952
92002	CCNQ	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
92002	CCNQ	HP:0012514	Lower limb pain	4/4	OMIM:131300
92002	CCNQ	HP:0000545	Myopia	HP:0040283	ORPHA:140952
92154	MTSS2	HP:0001256	Intellectual disability, mild	3/3	OMIM:620086
92154	MTSS2	HP:0001250	Seizure	1/5	OMIM:620086
92154	MTSS2	HP:0001263	Global developmental delay	5/5	OMIM:620086
92154	MTSS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:620086
92154	MTSS2	HP:0003593	Infantile onset	5/5	OMIM:620086
92154	MTSS2	HP:0000639	Nystagmus	3/5	OMIM:620086
92154	MTSS2	HP:0000648	Optic atrophy	1/5	OMIM:620086
92154	MTSS2	HP:0000729	Autistic behavior	2/3	OMIM:620086
92154	MTSS2	HP:0011523	Iris cyst	1/5	OMIM:620086
92154	MTSS2	HP:0000286	Epicanthus	4/4	OMIM:620086
92154	MTSS2	HP:0007750	Hypoplasia of the fovea	1/5	OMIM:620086
92154	MTSS2	HP:0000252	Microcephaly	2/5	OMIM:620086
92154	MTSS2	HP:0000341	Narrow forehead	4/4	OMIM:620086
92154	MTSS2	HP:0000407	Sensorineural hearing impairment	2/4	OMIM:620086
92154	MTSS2	HP:0000508	Ptosis	2/5	OMIM:620086
92154	MTSS2	HP:0000582	Upslanted palpebral fissure	4/4	OMIM:620086
92211	CDHR1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
92211	CDHR1	HP:0001133	Constriction of peripheral visual field	-	OMIM:613660
92211	CDHR1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
92211	CDHR1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
92211	CDHR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
92211	CDHR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613660
92211	CDHR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
92211	CDHR1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
92211	CDHR1	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
92211	CDHR1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
92211	CDHR1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
92211	CDHR1	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
92211	CDHR1	HP:0003621	Juvenile onset	8/19	OMIM:180100
92211	CDHR1	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
92211	CDHR1	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
92211	CDHR1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
92211	CDHR1	HP:0000618	Blindness	HP:0040281	ORPHA:791
92211	CDHR1	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
92211	CDHR1	HP:0000613	Photophobia	HP:0040283	OMIM:613660
92211	CDHR1	HP:0000613	Photophobia	HP:0040281	ORPHA:791
92211	CDHR1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
92211	CDHR1	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
92211	CDHR1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
92211	CDHR1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
92211	CDHR1	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
92211	CDHR1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
92211	CDHR1	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
92211	CDHR1	HP:0000662	Nyctalopia	26/28	OMIM:180100
92211	CDHR1	HP:0000662	Nyctalopia	HP:0040283	OMIM:613660
92211	CDHR1	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
92211	CDHR1	HP:0011463	Childhood onset	3/19	OMIM:180100
92211	CDHR1	HP:0011462	Young adult onset	8/19	OMIM:180100
92211	CDHR1	HP:0030786	Photopsia	HP:0040283	ORPHA:791
92211	CDHR1	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
92211	CDHR1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
92211	CDHR1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
92211	CDHR1	HP:0007722	Retinal pigment epithelial atrophy	-	OMIM:613660
92211	CDHR1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
92211	CDHR1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
92211	CDHR1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
92211	CDHR1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
92211	CDHR1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
92211	CDHR1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
92211	CDHR1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
92211	CDHR1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
92211	CDHR1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
92211	CDHR1	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:613660
92211	CDHR1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
92211	CDHR1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
92211	CDHR1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
92211	CDHR1	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
92211	CDHR1	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
92211	CDHR1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
92211	CDHR1	HP:0000510	Rod-cone dystrophy	-	OMIM:613660
92211	CDHR1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
92211	CDHR1	HP:0000529	Progressive visual loss	6/6	OMIM:613660
92211	CDHR1	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
92211	CDHR1	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
92211	CDHR1	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
92211	CDHR1	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
92211	CDHR1	HP:0000575	Scotoma	5/18	OMIM:180100
92211	CDHR1	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
92211	CDHR1	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
92211	CDHR1	HP:0000551	Color vision defect	-	OMIM:613660
92211	CDHR1	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
92211	CDHR1	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
92211	CDHR1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
92211	CDHR1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
92211	CDHR1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
92211	CDHR1	HP:0000545	Myopia	-	OMIM:180100
92255	LMBRD2	HP:0001137	Alternating esotropia	1/10	OMIM:619694
92255	LMBRD2	HP:0001270	Motor delay	9/10	OMIM:619694
92255	LMBRD2	HP:0001250	Seizure	5/10	OMIM:619694
92255	LMBRD2	HP:0001263	Global developmental delay	10/10	OMIM:619694
92255	LMBRD2	HP:0001257	Spasticity	3/10	OMIM:619694
92255	LMBRD2	HP:0033725	Thin corpus callosum	6/9	OMIM:619694
92255	LMBRD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619694
92255	LMBRD2	HP:0002057	Prominent glabella	1/10	OMIM:619694
92255	LMBRD2	HP:0003593	Infantile onset	10/10	OMIM:619694
92255	LMBRD2	HP:0002282	Gray matter heterotopia	1/10	OMIM:619694
92255	LMBRD2	HP:0200021	Down-sloping shoulders	1/10	OMIM:619694
92255	LMBRD2	HP:0000639	Nystagmus	1/10	OMIM:619694
92255	LMBRD2	HP:0000637	Long palpebral fissure	1/10	OMIM:619694
92255	LMBRD2	HP:0000646	Amblyopia	1/10	OMIM:619694
92255	LMBRD2	HP:0000691	Microdontia	1/10	OMIM:619694
92255	LMBRD2	HP:0000687	Widely spaced teeth	1/10	OMIM:619694
92255	LMBRD2	HP:0000767	Pectus excavatum	1/10	OMIM:619694
92255	LMBRD2	HP:0000750	Delayed speech and language development	9/10	OMIM:619694
92255	LMBRD2	HP:0006380	Knee flexion contracture	1/10	OMIM:619694
92255	LMBRD2	HP:0000252	Microcephaly	7/10	OMIM:619694
92255	LMBRD2	HP:0012385	Camptodactyly	1/10	OMIM:619694
92255	LMBRD2	HP:0000336	Prominent supraorbital ridges	1/10	OMIM:619694
92255	LMBRD2	HP:0000347	Micrognathia	2/10	OMIM:619694
92255	LMBRD2	HP:0002967	Cubitus valgus	1/10	OMIM:619694
92255	LMBRD2	HP:0005338	Sparse lateral eyebrow	1/10	OMIM:619694
92255	LMBRD2	HP:0000400	Macrotia	2/10	OMIM:619694
92255	LMBRD2	HP:0000483	Astigmatism	1/10	OMIM:619694
92255	LMBRD2	HP:0000463	Anteverted nares	1/10	OMIM:619694
92255	LMBRD2	HP:0000445	Wide nose	1/10	OMIM:619694
92255	LMBRD2	HP:0000518	Cataract	1/10	OMIM:619694
92255	LMBRD2	HP:0000501	Glaucoma	1/10	OMIM:619694
92255	LMBRD2	HP:0000582	Upslanted palpebral fissure	1/10	OMIM:619694
92255	LMBRD2	HP:0000568	Microphthalmia	2/20	OMIM:619694
92255	LMBRD2	HP:0000540	Hypermetropia	1/10	OMIM:619694
92335	STRADA	HP:0002446	Astrocytosis	-	OMIM:611087
92335	STRADA	HP:0001290	Generalized hypotonia	-	OMIM:611087
92335	STRADA	HP:0001288	Gait disturbance	-	OMIM:611087
92335	STRADA	HP:0001250	Seizure	HP:0040281	ORPHA:500533
92335	STRADA	HP:0001250	Seizure	-	OMIM:611087
92335	STRADA	HP:0001252	Hypotonia	HP:0040281	ORPHA:500533
92335	STRADA	HP:0001252	Hypotonia	16/16	OMIM:611087
92335	STRADA	HP:0001249	Intellectual disability	-	OMIM:611087
92335	STRADA	HP:0001263	Global developmental delay	HP:0040281	ORPHA:500533
92335	STRADA	HP:0001263	Global developmental delay	-	OMIM:611087
92335	STRADA	HP:0002540	Inability to walk	-	OMIM:611087
92335	STRADA	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:500533
92335	STRADA	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:500533
92335	STRADA	HP:0001382	Joint hypermobility	HP:0040283	OMIM:611087
92335	STRADA	HP:0001355	Megalencephaly	HP:0040281	ORPHA:500533
92335	STRADA	HP:0001355	Megalencephaly	-	OMIM:611087
92335	STRADA	HP:0001344	Absent speech	HP:0040283	ORPHA:500533
92335	STRADA	HP:0001344	Absent speech	-	OMIM:611087
92335	STRADA	HP:0000007	Autosomal recessive inheritance	-	OMIM:611087
92335	STRADA	HP:0000179	Thick lower lip vermilion	16/16	OMIM:611087
92335	STRADA	HP:0000194	Open mouth	HP:0040283	ORPHA:500533
92335	STRADA	HP:0000194	Open mouth	-	OMIM:611087
92335	STRADA	HP:0000154	Wide mouth	HP:0040283	ORPHA:500533
92335	STRADA	HP:0000154	Wide mouth	16/16	OMIM:611087
92335	STRADA	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:500533
92335	STRADA	HP:0000121	Nephrocalcinosis	2/16	OMIM:611087
92335	STRADA	HP:0002003	Large forehead	16/16	OMIM:611087
92335	STRADA	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:500533
92335	STRADA	HP:0002119	Ventriculomegaly	-	OMIM:611087
92335	STRADA	HP:0002133	Status epilepticus	HP:0040283	ORPHA:500533
92335	STRADA	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:500533
92335	STRADA	HP:0011968	Feeding difficulties	-	OMIM:611087
92335	STRADA	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:500533
92335	STRADA	HP:0010804	Tented upper lip vermilion	HP:0040283	ORPHA:500533
92335	STRADA	HP:0002307	Drooling	HP:0040283	ORPHA:500533
92335	STRADA	HP:0006829	Severe muscular hypotonia	HP:0040283	ORPHA:500533
92335	STRADA	HP:0011344	Severe global developmental delay	HP:0040283	ORPHA:500533
92335	STRADA	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:500533
92335	STRADA	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:500533
92335	STRADA	HP:0003199	Decreased muscle mass	HP:0040283	ORPHA:500533
92335	STRADA	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:500533
92335	STRADA	HP:0000873	Diabetes insipidus	2/16	OMIM:611087
92335	STRADA	HP:0030891	Periventricular white matter hyperintensities	HP:0040282	ORPHA:500533
92335	STRADA	HP:0000297	Facial hypotonia	HP:0040283	ORPHA:500533
92335	STRADA	HP:0000297	Facial hypotonia	-	OMIM:611087
92335	STRADA	HP:0000256	Macrocephaly	HP:0040281	ORPHA:500533
92335	STRADA	HP:0000256	Macrocephaly	15/16	OMIM:611087
92335	STRADA	HP:0000275	Narrow face	HP:0040283	ORPHA:500533
92335	STRADA	HP:0000276	Long face	16/16	OMIM:611087
92335	STRADA	HP:0000215	Thick upper lip vermilion	16/16	OMIM:611087
92335	STRADA	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:500533
92335	STRADA	HP:0001561	Polyhydramnios	16/16	OMIM:611087
92335	STRADA	HP:0001533	Slender build	-	OMIM:611087
92335	STRADA	HP:0001508	Failure to thrive	HP:0040283	ORPHA:500533
92335	STRADA	HP:0012371	Hyperplasia of midface	16/16	OMIM:611087
92335	STRADA	HP:0000348	High forehead	HP:0040283	ORPHA:500533
92335	STRADA	HP:0000316	Hypertelorism	16/16	OMIM:611087
92335	STRADA	HP:0001622	Premature birth	15/16	OMIM:611087
92335	STRADA	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:500533
92335	STRADA	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:500533
92335	STRADA	HP:0001631	Atrial septal defect	4/16	OMIM:611087
92335	STRADA	HP:0011182	Interictal epileptiform activity	HP:0040283	ORPHA:500533
92335	STRADA	HP:0000486	Strabismus	-	OMIM:611087
92335	STRADA	HP:0012469	Infantile spasms	HP:0040281	ORPHA:500533
92335	STRADA	HP:0012430	Cerebral white matter hypoplasia	HP:0040282	ORPHA:500533
92335	STRADA	HP:0000431	Wide nasal bridge	16/16	OMIM:611087
92344	GORAB	HP:0001187	Hyperextensibility of the finger joints	8/8	OMIM:231070
92344	GORAB	HP:0001156	Brachydactyly	-	OMIM:143095
92344	GORAB	HP:0009882	Short distal phalanx of finger	-	OMIM:143095
92344	GORAB	HP:0008551	Microtia	-	OMIM:143095
92344	GORAB	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
92344	GORAB	HP:0001293	Cranial nerve compression	-	OMIM:131300
92344	GORAB	HP:0001256	Intellectual disability, mild	-	OMIM:259770
92344	GORAB	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:2078
92344	GORAB	HP:0001252	Hypotonia	-	OMIM:259770
92344	GORAB	HP:0001252	Hypotonia	HP:0040282	ORPHA:2078
92344	GORAB	HP:0001252	Hypotonia	2/7	OMIM:615777
92344	GORAB	HP:0001249	Intellectual disability	7/8	OMIM:231070
92344	GORAB	HP:0001249	Intellectual disability	0/9	OMIM:143095
92344	GORAB	HP:0001249	Intellectual disability	3/20	OMIM:150250
92344	GORAB	HP:0001249	Intellectual disability	5/7	OMIM:615777
92344	GORAB	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2078
92344	GORAB	HP:0001263	Global developmental delay	1/1	OMIM:612394
92344	GORAB	HP:0001263	Global developmental delay	-	OMIM:615777
92344	GORAB	HP:0007414	Neonatal wrinkled skin of hands and feet	8/8	OMIM:231070
92344	GORAB	HP:0100864	Short femoral neck	-	OMIM:143095
92344	GORAB	HP:0006067	Multiple carpal ossification centers	-	OMIM:143095
92344	GORAB	HP:0006067	Multiple carpal ossification centers	-	OMIM:150250
92344	GORAB	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:143095
92344	GORAB	HP:0003883	Tapered humerus	3/16	OMIM:150250
92344	GORAB	HP:0001222	Spatulate thumbs	17/18	OMIM:150250
92344	GORAB	HP:0002515	Waddling gait	54/102	OMIM:131300
92344	GORAB	HP:0002515	Waddling gait	-	OMIM:143095
92344	GORAB	HP:0003834	Shoulder dislocation	-	OMIM:143095
92344	GORAB	HP:0001371	Flexion contracture	-	OMIM:143095
92344	GORAB	HP:0001373	Joint dislocation	-	OMIM:143095
92344	GORAB	HP:0001382	Joint hypermobility	-	OMIM:259770
92344	GORAB	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:2078
92344	GORAB	HP:0001382	Joint hypermobility	-	OMIM:150250
92344	GORAB	HP:0001382	Joint hypermobility	-	OMIM:615777
92344	GORAB	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
92344	GORAB	HP:0002694	Sclerosis of skull base	-	OMIM:131300
92344	GORAB	HP:0000028	Cryptorchidism	-	OMIM:150250
92344	GORAB	HP:0008897	Postnatal growth retardation	-	OMIM:615777
92344	GORAB	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
92344	GORAB	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
92344	GORAB	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:2078
92344	GORAB	HP:0003994	Dislocated wrist	-	OMIM:150250
92344	GORAB	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
92344	GORAB	HP:0002659	Increased susceptibility to fractures	-	OMIM:231070
92344	GORAB	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
92344	GORAB	HP:0001324	Muscle weakness	40/96	OMIM:131300
92344	GORAB	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:143095
92344	GORAB	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
92344	GORAB	HP:0000007	Autosomal recessive inheritance	-	OMIM:231070
92344	GORAB	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
92344	GORAB	HP:0000007	Autosomal recessive inheritance	-	OMIM:143095
92344	GORAB	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
92344	GORAB	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
92344	GORAB	HP:0000006	Autosomal dominant inheritance	-	OMIM:150250
92344	GORAB	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
92344	GORAB	HP:0002650	Scoliosis	1/5	OMIM:259770
92344	GORAB	HP:0002650	Scoliosis	HP:0040282	ORPHA:2078
92344	GORAB	HP:0002650	Scoliosis	1/1	OMIM:612394
92344	GORAB	HP:0002650	Scoliosis	9/9	OMIM:143095
92344	GORAB	HP:0002650	Scoliosis	12/14	OMIM:131300
92344	GORAB	HP:0002650	Scoliosis	12/20	OMIM:150250
92344	GORAB	HP:0002645	Wormian bones	0/4	OMIM:231070
92344	GORAB	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
92344	GORAB	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
92344	GORAB	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
92344	GORAB	HP:0008905	Rhizomelia	-	OMIM:143095
92344	GORAB	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
92344	GORAB	HP:0000164	Abnormality of the dentition	0/8	OMIM:231070
92344	GORAB	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
92344	GORAB	HP:0000175	Cleft palate	3/20	OMIM:150250
92344	GORAB	HP:0000175	Cleft palate	2/7	OMIM:615777
92344	GORAB	HP:0007598	Bilateral single transverse palmar creases	-	OMIM:143095
92344	GORAB	HP:0002783	Recurrent lower respiratory tract infections	4/8	OMIM:231070
92344	GORAB	HP:0002780	Bronchomalacia	-	OMIM:150250
92344	GORAB	HP:0002779	Tracheomalacia	-	OMIM:150250
92344	GORAB	HP:0002777	Tracheal stenosis	-	OMIM:150250
92344	GORAB	HP:0002757	Recurrent fractures	4/5	OMIM:259770
92344	GORAB	HP:0002757	Recurrent fractures	7/8	OMIM:231070
92344	GORAB	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:2078
92344	GORAB	HP:0002756	Pathologic fracture	-	OMIM:259770
92344	GORAB	HP:0002756	Pathologic fracture	1/1	OMIM:612394
92344	GORAB	HP:0002751	Kyphoscoliosis	-	OMIM:143095
92344	GORAB	HP:0002751	Kyphoscoliosis	-	OMIM:259770
92344	GORAB	HP:0002751	Kyphoscoliosis	-	OMIM:231070
92344	GORAB	HP:0002750	Delayed skeletal maturation	-	OMIM:143095
92344	GORAB	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
92344	GORAB	HP:0002007	Frontal bossing	-	OMIM:150250
92344	GORAB	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:2078
92344	GORAB	HP:0003304	Spondylolysis	-	OMIM:150250
92344	GORAB	HP:0003301	Irregular vertebral endplates	-	OMIM:143095
92344	GORAB	HP:0003301	Irregular vertebral endplates	-	OMIM:231070
92344	GORAB	HP:0011800	Midface retrusion	19/20	OMIM:150250
92344	GORAB	HP:0002092	Pulmonary arterial hypertension	-	OMIM:143095
92344	GORAB	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
92344	GORAB	HP:0003388	Easy fatigability	36/76	OMIM:131300
92344	GORAB	HP:0010446	Tricuspid stenosis	-	OMIM:143095
92344	GORAB	HP:0008127	Bipartite calcaneus	-	OMIM:150250
92344	GORAB	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
92344	GORAB	HP:0005930	Abnormal epiphysis morphology	HP:0040283	ORPHA:2078
92344	GORAB	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
92344	GORAB	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
92344	GORAB	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
92344	GORAB	HP:0003417	Coronal cleft vertebrae	-	OMIM:143095
92344	GORAB	HP:0002194	Delayed gross motor development	-	OMIM:143095
92344	GORAB	HP:0002164	Nail dysplasia	1/1	OMIM:612394
92344	GORAB	HP:0002176	Spinal cord compression	-	OMIM:150250
92344	GORAB	HP:0100490	Camptodactyly of finger	-	OMIM:143095
92344	GORAB	HP:0010557	Overlapping fingers	1/2	OMIM:612394
92344	GORAB	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
92344	GORAB	HP:0011849	Abnormal bone ossification	HP:0040281	ORPHA:2078
92344	GORAB	HP:0010585	Small epiphyses	9/9	OMIM:143095
92344	GORAB	HP:0003593	Infantile onset	1/5	OMIM:259770
92344	GORAB	HP:0003593	Infantile onset	9/9	OMIM:143095
92344	GORAB	HP:0003577	Congenital onset	4/5	OMIM:259770
92344	GORAB	HP:0003577	Congenital onset	6/6	OMIM:143095
92344	GORAB	HP:0003577	Congenital onset	8/8	OMIM:231070
92344	GORAB	HP:0002208	Coarse hair	1/1	OMIM:612394
92344	GORAB	HP:0100790	Hernia	HP:0040283	ORPHA:2078
92344	GORAB	HP:0003510	Severe short stature	7/7	OMIM:615777
92344	GORAB	HP:0003510	Severe short stature	-	OMIM:231070
92344	GORAB	HP:0003510	Severe short stature	HP:0040281	ORPHA:2078
92344	GORAB	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
92344	GORAB	HP:0025019	Arterial rupture	1/1	OMIM:612394
92344	GORAB	HP:0002315	Headache	-	OMIM:131300
92344	GORAB	HP:0004976	Knee dislocation	16/20	OMIM:150250
92344	GORAB	HP:0004976	Knee dislocation	6/6	OMIM:143095
92344	GORAB	HP:0004976	Knee dislocation	6/7	OMIM:615777
92344	GORAB	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
92344	GORAB	HP:0100678	Premature skin wrinkling	8/8	OMIM:231070
92344	GORAB	HP:0009803	Short phalanx of finger	-	OMIM:143095
92344	GORAB	HP:0009803	Short phalanx of finger	-	OMIM:615777
92344	GORAB	HP:0001089	Iris atrophy	-	OMIM:259770
92344	GORAB	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:143095
92344	GORAB	HP:0010743	Short metatarsal	-	OMIM:150250
92344	GORAB	HP:0009763	Limb pain	63/92	OMIM:131300
92344	GORAB	HP:0008434	Hypoplastic cervical vertebrae	-	OMIM:150250
92344	GORAB	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
92344	GORAB	HP:0003621	Juvenile onset	-	OMIM:131300
92344	GORAB	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
92344	GORAB	HP:0004942	Aortic aneurysm	-	OMIM:150250
92344	GORAB	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
92344	GORAB	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
92344	GORAB	HP:0004232	Accessory carpal bones	-	OMIM:150250
92344	GORAB	HP:6001056	Out-toeing	-	OMIM:131300
92344	GORAB	HP:0000651	Diplopia	-	OMIM:131300
92344	GORAB	HP:0000618	Blindness	5/5	OMIM:259770
92344	GORAB	HP:0001956	Truncal obesity	2/7	OMIM:615777
92344	GORAB	HP:0001903	Anemia	HP:0040283	OMIM:131300
92344	GORAB	HP:0010049	Short metacarpal	-	OMIM:143095
92344	GORAB	HP:0010049	Short metacarpal	-	OMIM:615777
92344	GORAB	HP:0010049	Short metacarpal	-	OMIM:150250
92344	GORAB	HP:0000684	Delayed eruption of teeth	-	OMIM:143095
92344	GORAB	HP:0000678	Dental crowding	-	OMIM:615777
92344	GORAB	HP:0000691	Microdontia	-	OMIM:143095
92344	GORAB	HP:0000687	Widely spaced teeth	-	OMIM:143095
92344	GORAB	HP:0000670	Carious teeth	-	OMIM:131300
92344	GORAB	HP:0011304	Broad thumb	2/7	OMIM:615777
92344	GORAB	HP:0000668	Hypodontia	-	OMIM:615777
92344	GORAB	HP:0000668	Hypodontia	-	OMIM:150250
92344	GORAB	HP:0000667	Phthisis bulbi	-	OMIM:259770
92344	GORAB	HP:0000664	Synophrys	-	OMIM:615777
92344	GORAB	HP:0004322	Short stature	-	OMIM:259770
92344	GORAB	HP:0004322	Short stature	15/15	OMIM:143095
92344	GORAB	HP:0004322	Short stature	14/20	OMIM:150250
92344	GORAB	HP:0003071	Flattened epiphysis	-	OMIM:143095
92344	GORAB	HP:0003083	Dislocated radial head	6/6	OMIM:143095
92344	GORAB	HP:0004396	Poor appetite	-	OMIM:131300
92344	GORAB	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
92344	GORAB	HP:0003031	Ulnar bowing	-	OMIM:143095
92344	GORAB	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
92344	GORAB	HP:0003042	Elbow dislocation	-	OMIM:143095
92344	GORAB	HP:0003042	Elbow dislocation	13/20	OMIM:150250
92344	GORAB	HP:0003040	Arthropathy	-	OMIM:143095
92344	GORAB	HP:0003016	Metaphyseal widening	-	OMIM:259770
92344	GORAB	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
92344	GORAB	HP:0003026	Short long bone	7/7	OMIM:615777
92344	GORAB	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
92344	GORAB	HP:0003022	Hypoplasia of the ulna	-	OMIM:143095
92344	GORAB	HP:0000767	Pectus excavatum	-	OMIM:150250
92344	GORAB	HP:0000767	Pectus excavatum	2/7	OMIM:615777
92344	GORAB	HP:0000768	Pectus carinatum	-	OMIM:150250
92344	GORAB	HP:0000768	Pectus carinatum	1/7	OMIM:615777
92344	GORAB	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:2078
92344	GORAB	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
92344	GORAB	HP:0000750	Delayed speech and language development	4/8	OMIM:231070
92344	GORAB	HP:0000750	Delayed speech and language development	-	OMIM:615777
92344	GORAB	HP:0000704	Periodontitis	-	OMIM:231070
92344	GORAB	HP:0009179	Deviation of the 5th finger	-	OMIM:143095
92344	GORAB	HP:0011461	Fetal onset	7/7	OMIM:615777
92344	GORAB	HP:0011461	Fetal onset	2/2	OMIM:612394
92344	GORAB	HP:0000774	Narrow chest	2/7	OMIM:615777
92344	GORAB	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
92344	GORAB	HP:0003196	Short nose	1/1	OMIM:612394
92344	GORAB	HP:0000914	Shield chest	-	OMIM:143095
92344	GORAB	HP:0000926	Platyspondyly	-	OMIM:259770
92344	GORAB	HP:0000926	Platyspondyly	1/7	OMIM:615777
92344	GORAB	HP:0000926	Platyspondyly	-	OMIM:231070
92344	GORAB	HP:0000926	Platyspondyly	1/1	OMIM:612394
92344	GORAB	HP:0000926	Platyspondyly	HP:0040283	ORPHA:2078
92344	GORAB	HP:0003184	Decreased hip abduction	-	OMIM:143095
92344	GORAB	HP:0003180	Flat acetabular roof	-	OMIM:615777
92344	GORAB	HP:0004482	Relative macrocephaly	-	OMIM:615777
92344	GORAB	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0/4	OMIM:231070
92344	GORAB	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
92344	GORAB	HP:0003093	Limited hip extension	9/9	OMIM:143095
92344	GORAB	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
92344	GORAB	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:143095
92344	GORAB	HP:0000823	Delayed puberty	-	OMIM:131300
92344	GORAB	HP:0000894	Short clavicles	-	OMIM:615777
92344	GORAB	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
92344	GORAB	HP:0004568	Beaking of vertebral bodies	HP:0040281	ORPHA:2078
92344	GORAB	HP:0004568	Beaking of vertebral bodies	-	OMIM:231070
92344	GORAB	HP:0004568	Beaking of vertebral bodies	-	OMIM:150250
92344	GORAB	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
92344	GORAB	HP:0003298	Spina bifida occulta	-	OMIM:150250
92344	GORAB	HP:0045075	Sparse eyebrow	-	OMIM:143095
92344	GORAB	HP:0004586	Biconcave vertebral bodies	HP:0040281	ORPHA:2078
92344	GORAB	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
92344	GORAB	HP:0004586	Biconcave vertebral bodies	-	OMIM:231070
92344	GORAB	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
92344	GORAB	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:2078
92344	GORAB	HP:0000973	Cutis laxa	-	OMIM:231070
92344	GORAB	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
92344	GORAB	HP:0000963	Thin skin	HP:0040281	ORPHA:2078
92344	GORAB	HP:0000939	Osteoporosis	4/5	OMIM:259770
92344	GORAB	HP:0000939	Osteoporosis	-	OMIM:231070
92344	GORAB	HP:0000939	Osteoporosis	HP:0040281	ORPHA:2078
92344	GORAB	HP:0000938	Osteopenia	1/5	OMIM:259770
92344	GORAB	HP:0000938	Osteopenia	4/4	OMIM:231070
92344	GORAB	HP:0000938	Osteopenia	1/1	OMIM:612394
92344	GORAB	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
92344	GORAB	HP:6000970	Diminished sulfotransferase activity in cultured fibroblasts	2/2	OMIM:143095
92344	GORAB	HP:0000286	Epicanthus	1/7	OMIM:615777
92344	GORAB	HP:0000280	Coarse facial features	2/7	OMIM:615777
92344	GORAB	HP:0001595	Abnormal hair morphology	0/8	OMIM:231070
92344	GORAB	HP:0000272	Malar flattening	-	OMIM:150250
92344	GORAB	HP:0000272	Malar flattening	-	OMIM:231070
92344	GORAB	HP:0000272	Malar flattening	1/1	OMIM:612394
92344	GORAB	HP:0000272	Malar flattening	HP:0040283	ORPHA:2078
92344	GORAB	HP:0006471	Fixed elbow flexion	-	OMIM:143095
92344	GORAB	HP:0006462	Generalized bone demineralization	-	OMIM:143095
92344	GORAB	HP:0007773	Vitreoretinopathy	-	OMIM:259770
92344	GORAB	HP:0002816	Genu recurvatum	3/6	OMIM:143095
92344	GORAB	HP:0002829	Arthralgia	-	OMIM:143095
92344	GORAB	HP:0002827	Hip dislocation	16/20	OMIM:150250
92344	GORAB	HP:0002827	Hip dislocation	3/7	OMIM:615777
92344	GORAB	HP:0002827	Hip dislocation	HP:0040282	ORPHA:2078
92344	GORAB	HP:0002808	Kyphosis	-	OMIM:143095
92344	GORAB	HP:0002808	Kyphosis	1/5	OMIM:259770
92344	GORAB	HP:0000252	Microcephaly	3/8	OMIM:231070
92344	GORAB	HP:0000252	Microcephaly	-	OMIM:259770
92344	GORAB	HP:0000252	Microcephaly	-	OMIM:615777
92344	GORAB	HP:0001582	Redundant skin	HP:0040281	ORPHA:2078
92344	GORAB	HP:0001552	Barrel-shaped chest	-	OMIM:143095
92344	GORAB	HP:0001552	Barrel-shaped chest	-	OMIM:259770
92344	GORAB	HP:0000218	High palate	-	OMIM:143095
92344	GORAB	HP:0002857	Genu valgum	-	OMIM:131300
92344	GORAB	HP:0002857	Genu valgum	-	OMIM:143095
92344	GORAB	HP:0001533	Slender build	-	OMIM:131300
92344	GORAB	HP:0000204	Cleft upper lip	-	OMIM:150250
92344	GORAB	HP:0001511	Intrauterine growth retardation	-	OMIM:150250
92344	GORAB	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
92344	GORAB	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
92344	GORAB	HP:0001510	Growth delay	HP:0040282	ORPHA:2078
92344	GORAB	HP:0007807	Optic nerve compression	-	OMIM:131300
92344	GORAB	HP:0012385	Camptodactyly	-	OMIM:231070
92344	GORAB	HP:0012368	Flat face	7/7	OMIM:615777
92344	GORAB	HP:0012368	Flat face	1/1	OMIM:612394
92344	GORAB	HP:0012368	Flat face	-	OMIM:150250
92344	GORAB	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
92344	GORAB	HP:0007875	Congenital blindness	4/5	OMIM:259770
92344	GORAB	HP:0007862	Retinal calcification	1/5	OMIM:259770
92344	GORAB	HP:0002938	Lumbar hyperlordosis	-	OMIM:143095
92344	GORAB	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
92344	GORAB	HP:0002948	Vertebral fusion	8/16	OMIM:150250
92344	GORAB	HP:0002947	Cervical kyphosis	-	OMIM:150250
92344	GORAB	HP:0002945	Intervertebral space narrowing	9/9	OMIM:143095
92344	GORAB	HP:0005180	Tricuspid regurgitation	-	OMIM:143095
92344	GORAB	HP:0000365	Hearing impairment	-	OMIM:143095
92344	GORAB	HP:0000365	Hearing impairment	10/67	OMIM:131300
92344	GORAB	HP:0000365	Hearing impairment	4/19	OMIM:150250
92344	GORAB	HP:0000369	Low-set ears	2/2	OMIM:612394
92344	GORAB	HP:0000343	Long philtrum	HP:0040282	OMIM:143095
92344	GORAB	HP:0000343	Long philtrum	1/7	OMIM:615777
92344	GORAB	HP:0011001	Increased bone mineral density	-	OMIM:131300
92344	GORAB	HP:0000337	Broad forehead	HP:0040282	OMIM:143095
92344	GORAB	HP:0002982	Tibial bowing	1/5	OMIM:259770
92344	GORAB	HP:0002982	Tibial bowing	-	OMIM:143095
92344	GORAB	HP:0002982	Tibial bowing	-	OMIM:231070
92344	GORAB	HP:0001650	Aortic valve stenosis	-	OMIM:143095
92344	GORAB	HP:0002980	Femoral bowing	-	OMIM:231070
92344	GORAB	HP:0000316	Hypertelorism	-	OMIM:143095
92344	GORAB	HP:0000316	Hypertelorism	0/8	OMIM:231070
92344	GORAB	HP:0000316	Hypertelorism	-	OMIM:150250
92344	GORAB	HP:0000311	Round face	2/7	OMIM:615777
92344	GORAB	HP:0001642	Pulmonic stenosis	-	OMIM:143095
92344	GORAB	HP:0000327	Hypoplasia of the maxilla	8/8	OMIM:231070
92344	GORAB	HP:0001659	Aortic regurgitation	-	OMIM:143095
92344	GORAB	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
92344	GORAB	HP:0001653	Mitral regurgitation	-	OMIM:143095
92344	GORAB	HP:0001629	Ventricular septal defect	-	OMIM:143095
92344	GORAB	HP:0001629	Ventricular septal defect	-	OMIM:259770
92344	GORAB	HP:0001629	Ventricular septal defect	-	OMIM:150250
92344	GORAB	HP:0002953	Vertebral compression fracture	HP:0040281	ORPHA:2078
92344	GORAB	HP:0002953	Vertebral compression fracture	-	OMIM:231070
92344	GORAB	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
92344	GORAB	HP:0001623	Breech presentation	3/6	OMIM:143095
92344	GORAB	HP:0002970	Genu varum	-	OMIM:615777
92344	GORAB	HP:0000307	Pointed chin	1/2	OMIM:612394
92344	GORAB	HP:0002967	Cubitus valgus	-	OMIM:143095
92344	GORAB	HP:0001631	Atrial septal defect	-	OMIM:150250
92344	GORAB	HP:0000303	Mandibular prognathia	-	OMIM:131300
92344	GORAB	HP:0000303	Mandibular prognathia	-	OMIM:231070
92344	GORAB	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:2078
92344	GORAB	HP:0007957	Corneal opacity	-	OMIM:150250
92344	GORAB	HP:0006610	Wide intermamillary distance	-	OMIM:143095
92344	GORAB	HP:0005328	Progeroid facial appearance	-	OMIM:231070
92344	GORAB	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
92344	GORAB	HP:0000405	Conductive hearing impairment	-	OMIM:150250
92344	GORAB	HP:0001718	Mitral stenosis	-	OMIM:143095
92344	GORAB	HP:0001714	Ventricular hypertrophy	-	OMIM:143095
92344	GORAB	HP:0005280	Depressed nasal bridge	-	OMIM:150250
92344	GORAB	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
92344	GORAB	HP:0000482	Microcornea	HP:0040283	ORPHA:2078
92344	GORAB	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:2078
92344	GORAB	HP:0000494	Downslanted palpebral fissures	0/8	OMIM:231070
92344	GORAB	HP:0000490	Deeply set eye	3/8	OMIM:231070
92344	GORAB	HP:0000463	Anteverted nares	1/1	OMIM:612394
92344	GORAB	HP:0000470	Short neck	-	OMIM:143095
92344	GORAB	HP:0000470	Short neck	1/7	OMIM:615777
92344	GORAB	HP:0001799	Short nail	-	OMIM:150250
92344	GORAB	HP:0001772	Talipes equinovalgus	-	OMIM:150250
92344	GORAB	HP:0001769	Broad foot	HP:0040283	OMIM:615777
92344	GORAB	HP:0001763	Pes planus	-	OMIM:143095
92344	GORAB	HP:0001763	Pes planus	1/7	OMIM:615777
92344	GORAB	HP:0001763	Pes planus	HP:0040283	ORPHA:2078
92344	GORAB	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
92344	GORAB	HP:0001762	Talipes equinovarus	6/6	OMIM:143095
92344	GORAB	HP:0001762	Talipes equinovarus	15/20	OMIM:150250
92344	GORAB	HP:0000518	Cataract	1/5	OMIM:259770
92344	GORAB	HP:0000518	Cataract	1/1	OMIM:612394
92344	GORAB	HP:0001840	Metatarsus adductus	-	OMIM:615777
92344	GORAB	HP:0000520	Proptosis	2/4	OMIM:131300
92344	GORAB	HP:0000520	Proptosis	7/7	OMIM:615777
92344	GORAB	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:2078
92344	GORAB	HP:0000592	Blue sclerae	2/7	OMIM:615777
92344	GORAB	HP:0000586	Shallow orbits	-	OMIM:150250
92344	GORAB	HP:0000586	Shallow orbits	1/1	OMIM:612394
92344	GORAB	HP:0011220	Prominent forehead	-	OMIM:150250
92344	GORAB	HP:0000568	Microphthalmia	1/5	OMIM:259770
92344	GORAB	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
92344	GORAB	HP:0001883	Talipes	HP:0040283	ORPHA:2078
92344	GORAB	HP:0012514	Lower limb pain	4/4	OMIM:131300
92344	GORAB	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
92344	GORAB	HP:0000545	Myopia	1/1	OMIM:612394
92345	NAF1	HP:0000028	Cryptorchidism	1/1	OMIM:620365
92345	NAF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620365
92345	NAF1	HP:0001409	Portal hypertension	1/5	OMIM:620365
92345	NAF1	HP:0002097	Emphysema	2/5	OMIM:620365
92345	NAF1	HP:0003596	Middle age onset	1/5	OMIM:620365
92345	NAF1	HP:0002216	Premature graying of hair	3/5	OMIM:620365
92345	NAF1	HP:0002206	Pulmonary fibrosis	1/5	OMIM:620365
92345	NAF1	HP:0008404	Nail dystrophy	1/5	OMIM:620365
92345	NAF1	HP:0100651	Type I diabetes mellitus	1/5	OMIM:620365
92345	NAF1	HP:0001903	Anemia	1/5	OMIM:620365
92345	NAF1	HP:0011462	Young adult onset	4/5	OMIM:620365
92345	NAF1	HP:0000938	Osteopenia	1/5	OMIM:620365
92345	NAF1	HP:0002863	Myelodysplasia	1/5	OMIM:620365
92345	NAF1	HP:0006739	Squamous cell carcinoma of the skin	1/5	OMIM:620365
92345	NAF1	HP:0001888	Decreased total lymphocyte count	1/5	OMIM:620365
92345	NAF1	HP:0001873	Thrombocytopenia	1/5	OMIM:620365
92482	BBIP1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
92482	BBIP1	HP:0001156	Brachydactyly	1/1	OMIM:615995
92482	BBIP1	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
92482	BBIP1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
92482	BBIP1	HP:0003774	Stage 5 chronic kidney disease	1/1	OMIM:615995
92482	BBIP1	HP:0001250	Seizure	HP:0040283	ORPHA:110
92482	BBIP1	HP:0001251	Ataxia	HP:0040283	ORPHA:110
92482	BBIP1	HP:0001249	Intellectual disability	1/1	OMIM:615995
92482	BBIP1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
92482	BBIP1	HP:0001257	Spasticity	HP:0040283	ORPHA:110
92482	BBIP1	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
92482	BBIP1	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
92482	BBIP1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
92482	BBIP1	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000083	Renal insufficiency	1/1	OMIM:615995
92482	BBIP1	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
92482	BBIP1	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
92482	BBIP1	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
92482	BBIP1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
92482	BBIP1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615995
92482	BBIP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
92482	BBIP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
92482	BBIP1	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
92482	BBIP1	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
92482	BBIP1	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
92482	BBIP1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
92482	BBIP1	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
92482	BBIP1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
92482	BBIP1	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
92482	BBIP1	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
92482	BBIP1	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
92482	BBIP1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
92482	BBIP1	HP:0002099	Asthma	HP:0040283	ORPHA:110
92482	BBIP1	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
92482	BBIP1	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
92482	BBIP1	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
92482	BBIP1	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
92482	BBIP1	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
92482	BBIP1	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
92482	BBIP1	HP:0003621	Juvenile onset	8/19	OMIM:180100
92482	BBIP1	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
92482	BBIP1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000618	Blindness	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000613	Photophobia	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000691	Microdontia	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000662	Nyctalopia	26/28	OMIM:180100
92482	BBIP1	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
92482	BBIP1	HP:0004322	Short stature	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000739	Anxiety	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000736	Short attention span	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000716	Depression	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000717	Autism	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
92482	BBIP1	HP:0011463	Childhood onset	3/19	OMIM:180100
92482	BBIP1	HP:0011462	Young adult onset	8/19	OMIM:180100
92482	BBIP1	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
92482	BBIP1	HP:0000789	Infertility	HP:0040283	ORPHA:110
92482	BBIP1	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
92482	BBIP1	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000822	Hypertension	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
92482	BBIP1	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
92482	BBIP1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
92482	BBIP1	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
92482	BBIP1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
92482	BBIP1	HP:0000218	High palate	HP:0040282	ORPHA:110
92482	BBIP1	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
92482	BBIP1	HP:0001513	Obesity	HP:0040281	ORPHA:110
92482	BBIP1	HP:0001513	Obesity	1/1	OMIM:615995
92482	BBIP1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
92482	BBIP1	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
92482	BBIP1	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
92482	BBIP1	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000388	Otitis media	HP:0040283	ORPHA:110
92482	BBIP1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
92482	BBIP1	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
92482	BBIP1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
92482	BBIP1	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
92482	BBIP1	HP:0000400	Macrotia	HP:0040283	ORPHA:110
92482	BBIP1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000486	Strabismus	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000470	Short neck	HP:0040283	ORPHA:110
92482	BBIP1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000518	Cataract	HP:0040283	ORPHA:110
92482	BBIP1	HP:0000518	Cataract	1/1	OMIM:615995
92482	BBIP1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
92482	BBIP1	HP:0000510	Rod-cone dystrophy	1/1	OMIM:615995
92482	BBIP1	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000575	Scotoma	5/18	OMIM:180100
92482	BBIP1	HP:0000556	Retinal dystrophy	1/1	OMIM:615995
92482	BBIP1	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
92482	BBIP1	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
92482	BBIP1	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
92482	BBIP1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
92482	BBIP1	HP:0000545	Myopia	-	OMIM:180100
92579	G6PC3	HP:0100806	Sepsis	2/12	OMIM:612541
92579	G6PC3	HP:0001263	Global developmental delay	HP:0040283	OMIM:612541
92579	G6PC3	HP:0000023	Inguinal hernia	1/12	OMIM:612541
92579	G6PC3	HP:0000028	Cryptorchidism	4/6	OMIM:612541
92579	G6PC3	HP:0000010	Recurrent urinary tract infections	4/12	OMIM:612541
92579	G6PC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:612541
92579	G6PC3	HP:0032435	Neonatal omphalitis	1/12	OMIM:612541
92579	G6PC3	HP:0002619	Varicose veins	-	OMIM:612541
92579	G6PC3	HP:0000175	Cleft palate	1/12	OMIM:612541
92579	G6PC3	HP:0012133	Erythroid hypoplasia	-	OMIM:612541
92579	G6PC3	HP:0000155	Oral ulcer	1/12	OMIM:612541
92579	G6PC3	HP:0002783	Recurrent lower respiratory tract infections	2/12	OMIM:612541
92579	G6PC3	HP:0002788	Recurrent upper respiratory tract infections	1/12	OMIM:612541
92579	G6PC3	HP:0000126	Hydronephrosis	HP:0040283	OMIM:612541
92579	G6PC3	HP:0001433	Hepatosplenomegaly	3/12	OMIM:612541
92579	G6PC3	HP:0002718	Recurrent bacterial infections	-	OMIM:612541
92579	G6PC3	HP:0100525	Urachus fistula	1/12	OMIM:612541
92579	G6PC3	HP:0002092	Pulmonary arterial hypertension	-	OMIM:612541
92579	G6PC3	HP:0002093	Respiratory insufficiency	-	OMIM:612541
92579	G6PC3	HP:0002240	Hepatomegaly	-	OMIM:612541
92579	G6PC3	HP:0004854	Intermittent thrombocytopenia	5/12	OMIM:612541
92579	G6PC3	HP:0002205	Recurrent respiratory infections	-	OMIM:612541
92579	G6PC3	HP:0001015	Prominent superficial veins	9/12	OMIM:612541
92579	G6PC3	HP:0010774	Cor triatriatum	1/12	OMIM:612541
92579	G6PC3	HP:0009789	Perianal abscess	2/12	OMIM:612541
92579	G6PC3	HP:0003623	Neonatal onset	-	OMIM:612541
92579	G6PC3	HP:0001903	Anemia	-	OMIM:612541
92579	G6PC3	HP:0011304	Broad thumb	-	OMIM:612541
92579	G6PC3	HP:0000768	Pectus carinatum	-	OMIM:612541
92579	G6PC3	HP:0000778	Hypoplasia of the thymus	-	OMIM:612541
92579	G6PC3	HP:0003198	Myopathy	1/12	OMIM:612541
92579	G6PC3	HP:0000954	Single transverse palmar crease	-	OMIM:612541
92579	G6PC3	HP:0040187	Neonatal sepsis	5/12	OMIM:612541
92579	G6PC3	HP:0030084	Clinodactyly	-	OMIM:612541
92579	G6PC3	HP:0000252	Microcephaly	2/12	OMIM:612541
92579	G6PC3	HP:0000218	High palate	-	OMIM:612541
92579	G6PC3	HP:0001508	Failure to thrive	-	OMIM:612541
92579	G6PC3	HP:0001510	Growth delay	-	OMIM:612541
92579	G6PC3	HP:0000388	Otitis media	1/12	OMIM:612541
92579	G6PC3	HP:0000365	Hearing impairment	-	OMIM:612541
92579	G6PC3	HP:0001684	Secundum atrial septal defect	7/12	OMIM:612541
92579	G6PC3	HP:0012311	Increased total monocyte count	-	OMIM:612541
92579	G6PC3	HP:0001643	Patent ductus arteriosus	1/12	OMIM:612541
92579	G6PC3	HP:0001642	Pulmonic stenosis	1/12	OMIM:612541
92579	G6PC3	HP:0001653	Mitral regurgitation	1/12	OMIM:612541
92579	G6PC3	HP:0012490	Panniculitis	1/12	OMIM:612541
92579	G6PC3	HP:0000407	Sensorineural hearing impairment	2/12	OMIM:612541
92579	G6PC3	HP:0001744	Splenomegaly	-	OMIM:612541
92579	G6PC3	HP:0000431	Wide nasal bridge	-	OMIM:612541
92579	G6PC3	HP:0001888	Decreased total lymphocyte count	-	OMIM:612541
92579	G6PC3	HP:0001882	Decreased total leukocyte count	-	OMIM:612541
92579	G6PC3	HP:0001873	Thrombocytopenia	-	OMIM:612541
92579	G6PC3	HP:0001875	Decreased total neutrophil count	12/12	OMIM:612541
92609	TIMM50	HP:0002490	Increased CSF lactate	1/1	OMIM:617698
92609	TIMM50	HP:0010864	Intellectual disability, severe	4/4	OMIM:617698
92609	TIMM50	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:505216
92609	TIMM50	HP:0001298	Encephalopathy	HP:0040281	ORPHA:505216
92609	TIMM50	HP:0001290	Generalized hypotonia	2/5	OMIM:617698
92609	TIMM50	HP:0001276	Hypertonia	1/4	OMIM:617698
92609	TIMM50	HP:0001284	Areflexia	1/1	OMIM:617698
92609	TIMM50	HP:0001250	Seizure	4/4	OMIM:617698
92609	TIMM50	HP:0001250	Seizure	HP:0040283	ORPHA:505216
92609	TIMM50	HP:0001252	Hypotonia	1/4	OMIM:617698
92609	TIMM50	HP:0001252	Hypotonia	HP:0040281	ORPHA:505216
92609	TIMM50	HP:0001266	Choreoathetosis	1/1	OMIM:617698
92609	TIMM50	HP:0001263	Global developmental delay	5/5	OMIM:617698
92609	TIMM50	HP:0001257	Spasticity	HP:0040284	OMIM:617698
92609	TIMM50	HP:0001257	Spasticity	HP:0040283	ORPHA:505216
92609	TIMM50	HP:0002521	Hypsarrhythmia	3/5	OMIM:617698
92609	TIMM50	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:505216
92609	TIMM50	HP:0002500	Abnormal cerebral white matter morphology	HP:0040284	OMIM:617698
92609	TIMM50	HP:0000020	Urinary incontinence	HP:0040284	OMIM:617698
92609	TIMM50	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:505216
92609	TIMM50	HP:0001347	Hyperreflexia	1/4	OMIM:617698
92609	TIMM50	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:505216
92609	TIMM50	HP:0001324	Muscle weakness	-	OMIM:617698
92609	TIMM50	HP:0001324	Muscle weakness	HP:0040281	ORPHA:505216
92609	TIMM50	HP:0001344	Absent speech	-	OMIM:617698
92609	TIMM50	HP:0001344	Absent speech	HP:0040283	ORPHA:505216
92609	TIMM50	HP:0000007	Autosomal recessive inheritance	-	OMIM:617698
92609	TIMM50	HP:0003344	3-Methylglutaric aciduria	1/1	OMIM:617698
92609	TIMM50	HP:0002007	Frontal bossing	1/1	OMIM:617698
92609	TIMM50	HP:0002059	Cerebral atrophy	3/4	OMIM:617698
92609	TIMM50	HP:0002059	Cerebral atrophy	HP:0040281	ORPHA:505216
92609	TIMM50	HP:0002151	Increased circulating lactate concentration	2/4	OMIM:617698
92609	TIMM50	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:505216
92609	TIMM50	HP:0002133	Status epilepticus	HP:0040281	ORPHA:505216
92609	TIMM50	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	HP:0040281	ORPHA:505216
92609	TIMM50	HP:0002194	Delayed gross motor development	HP:0040281	ORPHA:505216
92609	TIMM50	HP:0002169	Clonus	1/4	OMIM:617698
92609	TIMM50	HP:0002169	Clonus	HP:0040281	ORPHA:505216
92609	TIMM50	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:505216
92609	TIMM50	HP:0003593	Infantile onset	5/5	OMIM:617698
92609	TIMM50	HP:0003535	3-Methylglutaconic aciduria	5/5	OMIM:617698
92609	TIMM50	HP:0003535	3-Methylglutaconic aciduria	HP:0040281	ORPHA:505216
92609	TIMM50	HP:0002353	EEG abnormality	HP:0040281	ORPHA:505216
92609	TIMM50	HP:0007204	Diffuse white matter abnormalities	HP:0040281	ORPHA:505216
92609	TIMM50	HP:0000648	Optic atrophy	2/4	OMIM:617698
92609	TIMM50	HP:0000648	Optic atrophy	HP:0040283	ORPHA:505216
92609	TIMM50	HP:0031936	Delayed ability to walk	4/4	OMIM:617698
92609	TIMM50	HP:0031936	Delayed ability to walk	HP:0040281	ORPHA:505216
92609	TIMM50	HP:0000750	Delayed speech and language development	4/4	OMIM:617698
92609	TIMM50	HP:0000718	Aggressive behavior	3/4	OMIM:617698
92609	TIMM50	HP:0000718	Aggressive behavior	HP:0040281	ORPHA:505216
92609	TIMM50	HP:0000218	High palate	1/1	OMIM:617698
92609	TIMM50	HP:0001533	Slender build	HP:0040281	ORPHA:505216
92609	TIMM50	HP:0001508	Failure to thrive	3/4	OMIM:617698
92609	TIMM50	HP:0001508	Failure to thrive	HP:0040281	ORPHA:505216
92609	TIMM50	HP:0011097	Epileptic spasm	1/1	OMIM:617698
92609	TIMM50	HP:0006610	Wide intermamillary distance	1/1	OMIM:617698
92609	TIMM50	HP:0032988	Persistent head lag	1/4	OMIM:617698
92609	TIMM50	HP:0000486	Strabismus	1/1	OMIM:617698
92609	TIMM50	HP:0000470	Short neck	1/1	OMIM:617698
92609	TIMM50	HP:0000527	Long eyelashes	1/1	OMIM:617698
92667	MGME1	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:352447
92667	MGME1	HP:0003700	Generalized amyotrophy	5/6	OMIM:615084
92667	MGME1	HP:0001272	Cerebellar atrophy	5/5	OMIM:615084
92667	MGME1	HP:0001272	Cerebellar atrophy	HP:0040284	ORPHA:352447
92667	MGME1	HP:0001249	Intellectual disability	HP:0040284	ORPHA:352447
92667	MGME1	HP:0001249	Intellectual disability	3/6	OMIM:615084
92667	MGME1	HP:0001265	Hyporeflexia	2/6	OMIM:615084
92667	MGME1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:352447
92667	MGME1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615084
92667	MGME1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:352447
92667	MGME1	HP:0002719	Recurrent infections	HP:0040282	ORPHA:352447
92667	MGME1	HP:0002719	Recurrent infections	-	OMIM:615084
92667	MGME1	HP:0002018	Nausea	HP:0040283	OMIM:615084
92667	MGME1	HP:0002018	Nausea	HP:0040282	ORPHA:352447
92667	MGME1	HP:0002028	Chronic diarrhea	2/6	OMIM:615084
92667	MGME1	HP:0002014	Diarrhea	HP:0040284	ORPHA:352447
92667	MGME1	HP:0002015	Dysphagia	HP:0040282	ORPHA:352447
92667	MGME1	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:352447
92667	MGME1	HP:0003306	Spinal rigidity	2/6	OMIM:615084
92667	MGME1	HP:0002094	Dyspnea	HP:0040282	ORPHA:352447
92667	MGME1	HP:0002094	Dyspnea	-	OMIM:615084
92667	MGME1	HP:0002093	Respiratory insufficiency	2/6	OMIM:615084
92667	MGME1	HP:0003388	Easy fatigability	HP:0040282	ORPHA:352447
92667	MGME1	HP:0003388	Easy fatigability	-	OMIM:615084
92667	MGME1	HP:0011923	Decreased activity of mitochondrial complex I	4/4	OMIM:615084
92667	MGME1	HP:0003546	Exercise intolerance	-	OMIM:615084
92667	MGME1	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:352447
92667	MGME1	HP:0008347	Decreased activity of mitochondrial complex IV	2/4	OMIM:615084
92667	MGME1	HP:0010628	Facial palsy	-	OMIM:615084
92667	MGME1	HP:0003689	Multiple mitochondrial DNA deletions	6/6	OMIM:615084
92667	MGME1	HP:0003676	Progressive	-	OMIM:615084
92667	MGME1	HP:0007126	Proximal amyotrophy	-	OMIM:615084
92667	MGME1	HP:0008443	Neuropathic spinal arthropathy	-	OMIM:615084
92667	MGME1	HP:0008443	Neuropathic spinal arthropathy	HP:0040282	ORPHA:352447
92667	MGME1	HP:0003621	Juvenile onset	-	OMIM:615084
92667	MGME1	HP:0000651	Diplopia	-	ORPHA:352447
92667	MGME1	HP:0004396	Poor appetite	HP:0040283	ORPHA:352447
92667	MGME1	HP:0011462	Young adult onset	-	OMIM:615084
92667	MGME1	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:352447
92667	MGME1	HP:0003198	Myopathy	HP:0040282	ORPHA:352447
92667	MGME1	HP:0000815	Hypergonadotropic hypogonadism	HP:0040284	ORPHA:352447
92667	MGME1	HP:0000815	Hypergonadotropic hypogonadism	-	OMIM:615084
92667	MGME1	HP:0040013	Decreased mitochondrial number	HP:0040282	ORPHA:352447
92667	MGME1	HP:0003236	Elevated circulating creatine kinase concentration	2/6	OMIM:615084
92667	MGME1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:352447
92667	MGME1	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:352447
92667	MGME1	HP:0003200	Ragged-red muscle fibers	6/6	OMIM:615084
92667	MGME1	HP:0011675	Arrhythmia	HP:0040284	ORPHA:352447
92667	MGME1	HP:0011675	Arrhythmia	1/6	OMIM:615084
92667	MGME1	HP:0002808	Kyphosis	4/6	OMIM:615084
92667	MGME1	HP:0002808	Kyphosis	HP:0040282	ORPHA:352447
92667	MGME1	HP:0000252	Microcephaly	HP:0040284	ORPHA:352447
92667	MGME1	HP:0000252	Microcephaly	2/6	OMIM:615084
92667	MGME1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:352447
92667	MGME1	HP:0001618	Dysphonia	HP:0040282	ORPHA:352447
92667	MGME1	HP:0001618	Dysphonia	2/6	OMIM:615084
92667	MGME1	HP:0001611	Hypernasal speech	-	OMIM:615084
92667	MGME1	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:352447
92667	MGME1	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:352447
92667	MGME1	HP:0001644	Dilated cardiomyopathy	1/6	OMIM:615084
92667	MGME1	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:352447
92667	MGME1	HP:0000508	Ptosis	-	OMIM:615084
92667	MGME1	HP:0000508	Ptosis	HP:0040282	ORPHA:352447
92667	MGME1	HP:0000590	Progressive external ophthalmoplegia	HP:0040281	ORPHA:352447
92667	MGME1	HP:0000590	Progressive external ophthalmoplegia	6/6	OMIM:615084
92749	DRC1	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
92749	DRC1	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
92749	DRC1	HP:0001217	Clubbing	HP:0040283	ORPHA:244
92749	DRC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615294
92749	DRC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620222
92749	DRC1	HP:0002643	Neonatal respiratory distress	1/4	OMIM:615294
92749	DRC1	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
92749	DRC1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
92749	DRC1	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
92749	DRC1	HP:0032558	Absent sperm flagella	2/2	OMIM:620222
92749	DRC1	HP:0032559	Short sperm flagella	2/2	OMIM:620222
92749	DRC1	HP:0032560	Coiled sperm flagella	2/2	OMIM:620222
92749	DRC1	HP:0031245	Productive cough	HP:0040282	ORPHA:244
92749	DRC1	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
92749	DRC1	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
92749	DRC1	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
92749	DRC1	HP:0002110	Bronchiectasis	1/4	OMIM:615294
92749	DRC1	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
92749	DRC1	HP:0008222	Female infertility	HP:0040283	ORPHA:244
92749	DRC1	HP:0003593	Infantile onset	1/4	OMIM:615294
92749	DRC1	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
92749	DRC1	HP:0100750	Atelectasis	1/4	OMIM:615294
92749	DRC1	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
92749	DRC1	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
92749	DRC1	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
92749	DRC1	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
92749	DRC1	HP:0003623	Neonatal onset	3/4	OMIM:615294
92749	DRC1	HP:0034011	Reduced progressive sperm motility	2/2	OMIM:620222
92749	DRC1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
92749	DRC1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
92749	DRC1	HP:0011462	Young adult onset	2/2	OMIM:620222
92749	DRC1	HP:0000798	Oligozoospermia	2/2	OMIM:620222
92749	DRC1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
92749	DRC1	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
92749	DRC1	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
92749	DRC1	HP:0030828	Wheezing	HP:0040283	ORPHA:244
92749	DRC1	HP:0003251	Male infertility	2/2	OMIM:620222
92749	DRC1	HP:0003251	Male infertility	HP:0040282	ORPHA:244
92749	DRC1	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
92749	DRC1	HP:0033036	Decreased nasal nitric oxide	1/1	OMIM:615294
92749	DRC1	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
92749	DRC1	HP:0012265	Ciliary dyskinesia	-	OMIM:615294
92749	DRC1	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
92749	DRC1	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
92749	DRC1	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
92749	DRC1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
92749	DRC1	HP:0006532	Recurrent pneumonia	4/4	OMIM:615294
92749	DRC1	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
92749	DRC1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
92749	DRC1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
92749	DRC1	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
92749	DRC1	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
92749	DRC1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
92749	DRC1	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
92749	DRC1	HP:0000403	Recurrent otitis media	1/1	OMIM:615294
92749	DRC1	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
92749	DRC1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
92749	DRC1	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
92749	DRC1	HP:0011109	Chronic sinusitis	-	OMIM:615294
92749	DRC1	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
92749	DRC1	HP:0001746	Asplenia	HP:0040284	ORPHA:244
92749	DRC1	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
92749	DRC1	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
92749	DRC1	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
92749	DRC1	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
92749	DRC1	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
92840	REEP6	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
92840	REEP6	HP:0001133	Constriction of peripheral visual field	3/5	OMIM:617304
92840	REEP6	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
92840	REEP6	HP:0001105	Retinal atrophy	5/5	OMIM:617304
92840	REEP6	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
92840	REEP6	HP:0000007	Autosomal recessive inheritance	-	OMIM:617304
92840	REEP6	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
92840	REEP6	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
92840	REEP6	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
92840	REEP6	HP:0007663	Reduced visual acuity	5/5	OMIM:617304
92840	REEP6	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
92840	REEP6	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
92840	REEP6	HP:0003621	Juvenile onset	8/19	OMIM:180100
92840	REEP6	HP:0003621	Juvenile onset	3/5	OMIM:617304
92840	REEP6	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
92840	REEP6	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
92840	REEP6	HP:0000618	Blindness	HP:0040281	ORPHA:791
92840	REEP6	HP:0000613	Photophobia	HP:0040281	ORPHA:791
92840	REEP6	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
92840	REEP6	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
92840	REEP6	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
92840	REEP6	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
92840	REEP6	HP:0000662	Nyctalopia	5/5	OMIM:617304
92840	REEP6	HP:0000662	Nyctalopia	26/28	OMIM:180100
92840	REEP6	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
92840	REEP6	HP:0011463	Childhood onset	3/19	OMIM:180100
92840	REEP6	HP:0011463	Childhood onset	1/5	OMIM:617304
92840	REEP6	HP:0011462	Young adult onset	8/19	OMIM:180100
92840	REEP6	HP:0030786	Photopsia	HP:0040283	ORPHA:791
92840	REEP6	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
92840	REEP6	HP:0011505	Cystoid macular edema	1/5	OMIM:617304
92840	REEP6	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
92840	REEP6	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
92840	REEP6	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
92840	REEP6	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
92840	REEP6	HP:0007787	Posterior subcapsular cataract	3/5	OMIM:617304
92840	REEP6	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
92840	REEP6	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
92840	REEP6	HP:0007737	Bone spicule pigmentation of the retina	3/5	OMIM:617304
92840	REEP6	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
92840	REEP6	HP:0007843	Attenuation of retinal blood vessels	5/5	OMIM:617304
92840	REEP6	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
92840	REEP6	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
92840	REEP6	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
92840	REEP6	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
92840	REEP6	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
92840	REEP6	HP:0025708	Early young adult onset	1/5	OMIM:617304
92840	REEP6	HP:0000510	Rod-cone dystrophy	5/5	OMIM:617304
92840	REEP6	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
92840	REEP6	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
92840	REEP6	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
92840	REEP6	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
92840	REEP6	HP:0000575	Scotoma	5/18	OMIM:180100
92840	REEP6	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
92840	REEP6	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
92840	REEP6	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
92840	REEP6	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
92840	REEP6	HP:0000543	Optic disc pallor	1/1	OMIM:180100
92840	REEP6	HP:0000545	Myopia	-	OMIM:180100
92935	MARS2	HP:0002497	Spastic ataxia	-	OMIM:611390
92935	MARS2	HP:0002497	Spastic ataxia	HP:0040281	ORPHA:314603
92935	MARS2	HP:0001159	Syndactyly	1/2	OMIM:616430
92935	MARS2	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:314603
92935	MARS2	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:314603
92935	MARS2	HP:0001290	Generalized hypotonia	2/2	OMIM:616430
92935	MARS2	HP:0001272	Cerebellar atrophy	40/54	OMIM:611390
92935	MARS2	HP:0001272	Cerebellar atrophy	2/2	OMIM:616430
92935	MARS2	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:314603
92935	MARS2	HP:0001251	Ataxia	54/54	OMIM:611390
92935	MARS2	HP:0001260	Dysarthria	42/54	OMIM:611390
92935	MARS2	HP:0001263	Global developmental delay	2/2	OMIM:616430
92935	MARS2	HP:0001257	Spasticity	HP:0040282	ORPHA:314603
92935	MARS2	HP:0001257	Spasticity	54/54	OMIM:611390
92935	MARS2	HP:0002505	Loss of ambulation	21/54	OMIM:611390
92935	MARS2	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:314603
92935	MARS2	HP:0001347	Hyperreflexia	23/23	OMIM:611390
92935	MARS2	HP:0001332	Dystonia	HP:0040282	ORPHA:314603
92935	MARS2	HP:0001332	Dystonia	15/54	OMIM:611390
92935	MARS2	HP:0000011	Neurogenic bladder	13/23	OMIM:611390
92935	MARS2	HP:0000012	Urinary urgency	26/54	OMIM:611390
92935	MARS2	HP:0000012	Urinary urgency	HP:0040282	ORPHA:314603
92935	MARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616430
92935	MARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:611390
92935	MARS2	HP:0001310	Dysmetria	31/54	OMIM:611390
92935	MARS2	HP:0001310	Dysmetria	HP:0040282	ORPHA:314603
92935	MARS2	HP:0002650	Scoliosis	HP:0040282	ORPHA:314603
92935	MARS2	HP:0002650	Scoliosis	9/54	OMIM:611390
92935	MARS2	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:314603
92935	MARS2	HP:0012110	Hypoplasia of the pons	1/2	OMIM:616430
92935	MARS2	HP:0100543	Cognitive impairment	10/23	OMIM:611390
92935	MARS2	HP:0002066	Gait ataxia	-	OMIM:611390
92935	MARS2	HP:0002066	Gait ataxia	HP:0040282	ORPHA:314603
92935	MARS2	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:314603
92935	MARS2	HP:0002059	Cerebral atrophy	1/2	OMIM:616430
92935	MARS2	HP:0002120	Cerebral cortical atrophy	10/23	OMIM:611390
92935	MARS2	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:314603
92935	MARS2	HP:0002119	Ventriculomegaly	1/2	OMIM:616430
92935	MARS2	HP:0003596	Middle age onset	14/54	OMIM:611390
92935	MARS2	HP:0003577	Congenital onset	2/2	OMIM:616430
92935	MARS2	HP:0011968	Feeding difficulties	2/2	OMIM:616430
92935	MARS2	HP:0011951	Aspiration pneumonia	2/2	OMIM:616430
92935	MARS2	HP:0002352	Leukoencephalopathy	21/54	OMIM:611390
92935	MARS2	HP:0002352	Leukoencephalopathy	HP:0040282	ORPHA:314603
92935	MARS2	HP:0003621	Juvenile onset	10/54	OMIM:611390
92935	MARS2	HP:0006855	Cerebellar vermis atrophy	50/54	OMIM:611390
92935	MARS2	HP:0000666	Horizontal nystagmus	24/54	OMIM:611390
92935	MARS2	HP:0000666	Horizontal nystagmus	HP:0040282	ORPHA:314603
92935	MARS2	HP:0004322	Short stature	2/2	OMIM:616430
92935	MARS2	HP:0000768	Pectus carinatum	2/2	OMIM:616430
92935	MARS2	HP:0011463	Childhood onset	11/54	OMIM:611390
92935	MARS2	HP:0011462	Young adult onset	19/54	OMIM:611390
92935	MARS2	HP:0030746	Intraventricular hemorrhage	1/2	OMIM:616430
92935	MARS2	HP:0003196	Short nose	2/2	OMIM:616430
92935	MARS2	HP:0034323	Reduced circulating growth hormone concentration	2/2	OMIM:616430
92935	MARS2	HP:0001508	Failure to thrive	1/2	OMIM:616430
92935	MARS2	HP:0000365	Hearing impairment	3/23	OMIM:611390
92935	MARS2	HP:0000369	Low-set ears	2/2	OMIM:616430
92935	MARS2	HP:0000343	Long philtrum	2/2	OMIM:616430
92935	MARS2	HP:0000319	Smooth philtrum	1/2	OMIM:616430
92935	MARS2	HP:0000316	Hypertelorism	1/2	OMIM:616430
92935	MARS2	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:616430
92935	MARS2	HP:0005280	Depressed nasal bridge	2/2	OMIM:616430
92935	MARS2	HP:0000463	Anteverted nares	2/2	OMIM:616430
92935	MARS2	HP:0012450	Chronic constipation	1/2	OMIM:616430
92935	MARS2	HP:0000431	Wide nasal bridge	1/2	OMIM:616430
92935	MARS2	HP:0011220	Prominent forehead	1/2	OMIM:616430
92949	ADAMTSL1	HP:0001182	Tapered finger	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0100807	Long fingers	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0005990	Thyroid hypoplasia	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0002076	Migraine	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0010490	Abnormality of the palmar creases	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0020038	Vertebrobasilar dolichoectasia	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0000696	Delayed eruption of permanent teeth	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0000787	Nephrolithiasis	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0000851	Congenital hypothyroidism	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0008007	Primary congenital glaucoma	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0000252	Microcephaly	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0000248	Brachycephaly	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0000321	Square face	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0000322	Short philtrum	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0000400	Macrotia	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0012448	Delayed myelination	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0005487	Prominent metopic ridge	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0001848	Calcaneovalgus deformity	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0000558	Rieger anomaly	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0000557	Buphthalmos	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0000541	Retinal detachment	HP:0040282	ORPHA:521445
92949	ADAMTSL1	HP:0000545	Myopia	HP:0040282	ORPHA:521445
93035	PKHD1L1	HP:0001249	Intellectual disability	0/1	OMIM:620794
93035	PKHD1L1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620794
93035	PKHD1L1	HP:0003577	Congenital onset	4/4	OMIM:620794
93035	PKHD1L1	HP:0001626	Abnormality of the cardiovascular system	0/1	OMIM:620794
93035	PKHD1L1	HP:0000407	Sensorineural hearing impairment	4/4	OMIM:620794
93035	PKHD1L1	HP:0000478	Abnormality of the eye	0/1	OMIM:620794
93035	PKHD1L1	HP:0001751	Abnormal vestibular function	0/1	OMIM:620794
93166	PRDM6	HP:0000006	Autosomal dominant inheritance	-	OMIM:617039
93166	PRDM6	HP:0001643	Patent ductus arteriosus	-	OMIM:617039
93183	PIGM	HP:0000007	Autosomal recessive inheritance	-	OMIM:610293
93183	PIGM	HP:0001409	Portal hypertension	2/3	OMIM:610293
93183	PIGM	HP:0002121	Generalized non-motor (absence) seizure	2/3	OMIM:610293
93183	PIGM	HP:0003593	Infantile onset	2/3	OMIM:610293
93183	PIGM	HP:0002240	Hepatomegaly	2/3	OMIM:610293
93183	PIGM	HP:0010819	Atonic seizure	1/3	OMIM:610293
93183	PIGM	HP:0004936	Venous thrombosis	-	OMIM:610293
93183	PIGM	HP:0005561	Abnormal bone marrow cell morphology	0/3	OMIM:610293
93183	PIGM	HP:0000750	Delayed speech and language development	1/3	OMIM:610293
93183	PIGM	HP:0011463	Childhood onset	1/3	OMIM:610293
93183	PIGM	HP:0031555	Reduced granulocyte CD59 level	-	OMIM:610293
93183	PIGM	HP:0030243	Hepatic vein thrombosis	-	OMIM:610293
93183	PIGM	HP:0030242	Portal vein thrombosis	2/3	OMIM:610293
93183	PIGM	HP:0001744	Splenomegaly	2/3	OMIM:610293
93210	PGAP3	HP:0001195	Single umbilical artery	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0003763	Bruxism	3/5	OMIM:615716
93210	PGAP3	HP:0001288	Gait disturbance	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0001250	Seizure	HP:0040281	ORPHA:247262
93210	PGAP3	HP:0001250	Seizure	4/5	OMIM:615716
93210	PGAP3	HP:0001252	Hypotonia	5/5	OMIM:615716
93210	PGAP3	HP:0001251	Ataxia	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:247262
93210	PGAP3	HP:0001249	Intellectual disability	-	OMIM:615716
93210	PGAP3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:247262
93210	PGAP3	HP:0001263	Global developmental delay	5/5	OMIM:615716
93210	PGAP3	HP:0002558	Supernumerary nipple	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0006118	Shortening of all distal phalanges of the fingers	HP:0040281	ORPHA:247262
93210	PGAP3	HP:0006118	Shortening of all distal phalanges of the fingers	0/5	OMIM:615716
93210	PGAP3	HP:0002540	Inability to walk	4/5	OMIM:615716
93210	PGAP3	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0002696	Abnormal parietal bone morphology	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0033725	Thin corpus callosum	1/5	OMIM:615716
93210	PGAP3	HP:0001344	Absent speech	5/5	OMIM:615716
93210	PGAP3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615716
93210	PGAP3	HP:0001336	Myoclonus	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0002650	Scoliosis	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000193	Bifid uvula	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000175	Cleft palate	2/5	OMIM:615716
93210	PGAP3	HP:0008947	Floppy infant	HP:0040281	ORPHA:247262
93210	PGAP3	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:247262
93210	PGAP3	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:247262
93210	PGAP3	HP:0002069	Bilateral tonic-clonic seizure	3/4	OMIM:615716
93210	PGAP3	HP:0002194	Delayed gross motor development	5/5	OMIM:615716
93210	PGAP3	HP:0003593	Infantile onset	5/5	OMIM:615716
93210	PGAP3	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0009748	Large earlobe	4/5	OMIM:615716
93210	PGAP3	HP:0002392	EEG with polyspike wave complexes	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0001009	Telangiectasia	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:247262
93210	PGAP3	HP:0010804	Tented upper lip vermilion	5/5	OMIM:615716
93210	PGAP3	HP:0006808	Cerebral hypomyelination	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:247262
93210	PGAP3	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:247262
93210	PGAP3	HP:0006956	Lateral ventricle dilatation	1/5	OMIM:615716
93210	PGAP3	HP:0004305	Involuntary movements	3/5	OMIM:615716
93210	PGAP3	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000729	Autistic behavior	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0003196	Short nose	5/5	OMIM:615716
93210	PGAP3	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040281	ORPHA:247262
93210	PGAP3	HP:0003155	Elevated circulating alkaline phosphatase concentration	5/5	OMIM:615716
93210	PGAP3	HP:0040194	Increased head circumference	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0040195	Decreased head circumference	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000286	Epicanthus	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000280	Coarse facial features	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000289	Broad philtrum	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0030084	Clinodactyly	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000252	Microcephaly	3/5	OMIM:615716
93210	PGAP3	HP:0000248	Brachycephaly	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000219	Thin upper lip vermilion	-	OMIM:615716
93210	PGAP3	HP:0000218	High palate	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0001510	Growth delay	HP:0040282	ORPHA:247262
93210	PGAP3	HP:0001510	Growth delay	1/5	OMIM:615716
93210	PGAP3	HP:0000378	Cupped ear	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000391	Thickened helices	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000347	Micrognathia	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0032794	Myoclonic seizure	1/4	OMIM:615716
93210	PGAP3	HP:0000316	Hypertelorism	HP:0040281	ORPHA:247262
93210	PGAP3	HP:0000316	Hypertelorism	5/5	OMIM:615716
93210	PGAP3	HP:0000311	Round face	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000322	Short philtrum	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0001792	Small nail	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000455	Broad nasal tip	5/5	OMIM:615716
93210	PGAP3	HP:0000470	Short neck	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000414	Bulbous nose	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:247262
93210	PGAP3	HP:0000431	Wide nasal bridge	5/5	OMIM:615716
93210	PGAP3	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000582	Upslanted palpebral fissure	3/5	OMIM:615716
93210	PGAP3	HP:0000594	Shallow anterior chamber	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000565	Esotropia	HP:0040283	ORPHA:247262
93210	PGAP3	HP:0000540	Hypermetropia	HP:0040283	ORPHA:247262
93233	ODAD1	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
93233	ODAD1	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
93233	ODAD1	HP:0001217	Clubbing	HP:0040283	ORPHA:244
93233	ODAD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615067
93233	ODAD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
93233	ODAD1	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
93233	ODAD1	HP:0000144	Decreased fertility	0/7	OMIM:615067
93233	ODAD1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
93233	ODAD1	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
93233	ODAD1	HP:0031245	Productive cough	HP:0040282	ORPHA:244
93233	ODAD1	HP:0031245	Productive cough	14/15	OMIM:615067
93233	ODAD1	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
93233	ODAD1	HP:0002092	Pulmonary arterial hypertension	1/16	OMIM:615067
93233	ODAD1	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
93233	ODAD1	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
93233	ODAD1	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
93233	ODAD1	HP:0002110	Bronchiectasis	6/6	OMIM:615067
93233	ODAD1	HP:0002105	Hemoptysis	5/14	OMIM:615067
93233	ODAD1	HP:0008222	Female infertility	HP:0040283	ORPHA:244
93233	ODAD1	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
93233	ODAD1	HP:0002205	Recurrent respiratory infections	-	OMIM:615067
93233	ODAD1	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
93233	ODAD1	HP:0100750	Atelectasis	-	OMIM:615067
93233	ODAD1	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
93233	ODAD1	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
93233	ODAD1	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	-	OMIM:615067
93233	ODAD1	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
93233	ODAD1	HP:0003623	Neonatal onset	16/16	OMIM:615067
93233	ODAD1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
93233	ODAD1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
93233	ODAD1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
93233	ODAD1	HP:0004415	Pulmonary artery stenosis	1/16	OMIM:615067
93233	ODAD1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
93233	ODAD1	HP:0004467	Preauricular pit	-	OMIM:187500
93233	ODAD1	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
93233	ODAD1	HP:0011538	Atrial situs inversus	1/16	OMIM:615067
93233	ODAD1	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
93233	ODAD1	HP:0030828	Wheezing	HP:0040283	ORPHA:244
93233	ODAD1	HP:0003251	Male infertility	HP:0040282	ORPHA:244
93233	ODAD1	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
93233	ODAD1	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
93233	ODAD1	HP:0012265	Ciliary dyskinesia	-	OMIM:615067
93233	ODAD1	HP:0012256	Absent outer dynein arms	2/2	OMIM:615067
93233	ODAD1	HP:0031417	Rhinorrhea	-	OMIM:615067
93233	ODAD1	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
93233	ODAD1	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
93233	ODAD1	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
93233	ODAD1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
93233	ODAD1	HP:0006532	Recurrent pneumonia	5/15	OMIM:615067
93233	ODAD1	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
93233	ODAD1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
93233	ODAD1	HP:0001696	Situs inversus totalis	5/16	OMIM:615067
93233	ODAD1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
93233	ODAD1	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
93233	ODAD1	HP:0000337	Broad forehead	-	OMIM:187500
93233	ODAD1	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
93233	ODAD1	HP:0001650	Aortic valve stenosis	1/16	OMIM:615067
93233	ODAD1	HP:0001651	Dextrocardia	1/16	OMIM:615067
93233	ODAD1	HP:0001629	Ventricular septal defect	2/16	OMIM:615067
93233	ODAD1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
93233	ODAD1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
93233	ODAD1	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
93233	ODAD1	HP:0005301	Persistent left superior vena cava	1/16	OMIM:615067
93233	ODAD1	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
93233	ODAD1	HP:0000403	Recurrent otitis media	15/16	OMIM:615067
93233	ODAD1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
93233	ODAD1	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
93233	ODAD1	HP:0001719	Double outlet right ventricle	1/16	OMIM:615067
93233	ODAD1	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
93233	ODAD1	HP:0011108	Recurrent sinusitis	9/16	OMIM:615067
93233	ODAD1	HP:0001746	Asplenia	HP:0040284	ORPHA:244
93233	ODAD1	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
93233	ODAD1	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
93233	ODAD1	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
93233	ODAD1	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
93233	ODAD1	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
93233	ODAD1	HP:0000520	Proptosis	-	OMIM:187500
93426	SYCE1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
93426	SYCE1	HP:0031038	Spermatogenesis maturation arrest	1/1	OMIM:616950
93426	SYCE1	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
93426	SYCE1	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
93426	SYCE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616947
93426	SYCE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616950
93426	SYCE1	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
93426	SYCE1	HP:0011961	Non-obstructive azoospermia	4/4	OMIM:616950
93426	SYCE1	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
93426	SYCE1	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
93426	SYCE1	HP:0011462	Young adult onset	4/4	OMIM:616950
93426	SYCE1	HP:0000786	Primary amenorrhea	-	OMIM:616947
93426	SYCE1	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
93426	SYCE1	HP:0003251	Male infertility	4/4	OMIM:616950
93426	SYCE1	HP:0007754	Macular dystrophy	-	OMIM:616947
93426	SYCE1	HP:0030087	Abnormal circulating testosterone concentration	0/2	OMIM:616950
93426	SYCE1	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0/4	OMIM:616950
93426	SYCE1	HP:0030345	Abnormal circulating luteinizing hormone concentration	0/4	OMIM:616950
93426	SYCE1	HP:0000568	Microphthalmia	-	OMIM:616947
93587	TRMT10A	HP:0002465	Poor speech	HP:0040282	ORPHA:391408
93587	TRMT10A	HP:0002460	Distal muscle weakness	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0007258	Severe demyelination of the white matter	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0001270	Motor delay	-	OMIM:616033
93587	TRMT10A	HP:0001250	Seizure	HP:0040282	ORPHA:391408
93587	TRMT10A	HP:0001250	Seizure	3/3	OMIM:616033
93587	TRMT10A	HP:0001249	Intellectual disability	HP:0040281	ORPHA:391408
93587	TRMT10A	HP:0001249	Intellectual disability	6/6	OMIM:616033
93587	TRMT10A	HP:0001263	Global developmental delay	HP:0040282	ORPHA:391408
93587	TRMT10A	HP:0001263	Global developmental delay	3/3	OMIM:616033
93587	TRMT10A	HP:0001238	Slender finger	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0025383	Dorsocervical fat pad	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0025383	Dorsocervical fat pad	1/3	OMIM:616033
93587	TRMT10A	HP:0001382	Joint hypermobility	1/3	OMIM:616033
93587	TRMT10A	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0001348	Brisk reflexes	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0008850	Severe postnatal growth retardation	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000007	Autosomal recessive inheritance	-	OMIM:616033
93587	TRMT10A	HP:0002650	Scoliosis	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0002650	Scoliosis	1/3	OMIM:616033
93587	TRMT10A	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000160	Narrow mouth	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0002121	Generalized non-motor (absence) seizure	1/3	OMIM:616033
93587	TRMT10A	HP:0002136	Broad-based gait	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0003577	Congenital onset	3/3	OMIM:616033
93587	TRMT10A	HP:0002213	Fine hair	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:5000011	Anti-GAD65 antibody	0/3	OMIM:616033
93587	TRMT10A	HP:0003508	Proportionate short stature	HP:0040281	ORPHA:391408
93587	TRMT10A	HP:0002365	Hypoplasia of the brainstem	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0200021	Down-sloping shoulders	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:391408
93587	TRMT10A	HP:0001946	Ketosis	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000601	Hypotelorism	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000677	Oligodontia	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000685	Hypoplasia of teeth	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0011308	Slender toe	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:391408
93587	TRMT10A	HP:0000664	Synophrys	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0004325	Decreased body weight	HP:0040282	ORPHA:391408
93587	TRMT10A	HP:0004322	Short stature	3/3	OMIM:616033
93587	TRMT10A	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0011451	Primary microcephaly	HP:0040281	ORPHA:391408
93587	TRMT10A	HP:0011451	Primary microcephaly	3/3	OMIM:616033
93587	TRMT10A	HP:0000786	Primary amenorrhea	1/3	OMIM:616033
93587	TRMT10A	HP:0003196	Short nose	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000819	Diabetes mellitus	HP:0040281	ORPHA:391408
93587	TRMT10A	HP:0000819	Diabetes mellitus	3/3	OMIM:616033
93587	TRMT10A	HP:0000825	Hyperinsulinemic hypoglycemia	3/3	OMIM:616033
93587	TRMT10A	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000823	Delayed puberty	HP:0040282	ORPHA:391408
93587	TRMT10A	HP:0000823	Delayed puberty	1/3	OMIM:616033
93587	TRMT10A	HP:0000939	Osteoporosis	1/3	OMIM:616033
93587	TRMT10A	HP:0008081	Pes valgus	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0008070	Sparse hair	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0010344	Deviation of the 5th toe	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000286	Epicanthus	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000293	Full cheeks	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000294	Low anterior hairline	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000294	Low anterior hairline	1/3	OMIM:616033
93587	TRMT10A	HP:0000275	Narrow face	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000274	Small face	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0030084	Clinodactyly	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000252	Microcephaly	HP:0040281	ORPHA:391408
93587	TRMT10A	HP:0000252	Microcephaly	3/3	OMIM:616033
93587	TRMT10A	HP:0025515	Delayed thelarche	1/3	OMIM:616033
93587	TRMT10A	HP:0000219	Thin upper lip vermilion	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0001518	Small for gestational age	HP:0040281	ORPHA:391408
93587	TRMT10A	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:391408
93587	TRMT10A	HP:0000341	Narrow forehead	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000343	Long philtrum	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000347	Micrognathia	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000311	Round face	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000322	Short philtrum	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0001620	Abnormally high-pitched voice	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000400	Macrotia	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000463	Anteverted nares	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0012448	Delayed myelination	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000470	Short neck	1/3	OMIM:616033
93587	TRMT10A	HP:0000470	Short neck	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000445	Wide nose	HP:0040283	ORPHA:391408
93587	TRMT10A	HP:0000445	Wide nose	1/3	OMIM:616033
93587	TRMT10A	HP:0000592	Blue sclerae	HP:0040283	ORPHA:391408
93589	CACNA2D4	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
93589	CACNA2D4	HP:0001133	Constriction of peripheral visual field	-	OMIM:610478
93589	CACNA2D4	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
93589	CACNA2D4	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
93589	CACNA2D4	HP:0000007	Autosomal recessive inheritance	-	OMIM:610478
93589	CACNA2D4	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
93589	CACNA2D4	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
93589	CACNA2D4	HP:0007663	Reduced visual acuity	-	OMIM:610478
93589	CACNA2D4	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
93589	CACNA2D4	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:215
93589	CACNA2D4	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
93589	CACNA2D4	HP:0003621	Juvenile onset	8/19	OMIM:180100
93589	CACNA2D4	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
93589	CACNA2D4	HP:0000639	Nystagmus	HP:0040282	ORPHA:215
93589	CACNA2D4	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
93589	CACNA2D4	HP:0000613	Photophobia	-	OMIM:610478
93589	CACNA2D4	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
93589	CACNA2D4	HP:0030469	Abnormal dark-adapted electroretinogram	HP:0040281	ORPHA:215
93589	CACNA2D4	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
93589	CACNA2D4	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	HP:0040283	ORPHA:215
93589	CACNA2D4	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
93589	CACNA2D4	HP:0000662	Nyctalopia	26/28	OMIM:180100
93589	CACNA2D4	HP:0000662	Nyctalopia	HP:0040281	ORPHA:215
93589	CACNA2D4	HP:0030639	Congenital stationary night blindness with abnormal fundus	HP:0040282	ORPHA:215
93589	CACNA2D4	HP:0030638	Congenital stationary night blindness with normal fundus	HP:0040282	ORPHA:215
93589	CACNA2D4	HP:0011463	Childhood onset	3/19	OMIM:180100
93589	CACNA2D4	HP:0011462	Young adult onset	8/19	OMIM:180100
93589	CACNA2D4	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
93589	CACNA2D4	HP:0007703	Abnormality of retinal pigmentation	HP:0040284	ORPHA:215
93589	CACNA2D4	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
93589	CACNA2D4	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
93589	CACNA2D4	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
93589	CACNA2D4	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
93589	CACNA2D4	HP:0007814	Retinal pigment epithelial mottling	-	OMIM:610478
93589	CACNA2D4	HP:0030329	Retinal thinning	HP:0040284	ORPHA:215
93589	CACNA2D4	HP:0007984	Electronegative electroretinogram	-	OMIM:610478
93589	CACNA2D4	HP:0007984	Electronegative electroretinogram	HP:0040283	ORPHA:215
93589	CACNA2D4	HP:0000486	Strabismus	HP:0040282	ORPHA:215
93589	CACNA2D4	HP:0031705	Compensatory head posture	HP:0040283	ORPHA:215
93589	CACNA2D4	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
93589	CACNA2D4	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
93589	CACNA2D4	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
93589	CACNA2D4	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
93589	CACNA2D4	HP:0000505	Visual impairment	-	OMIM:610478
93589	CACNA2D4	HP:0000575	Scotoma	5/18	OMIM:180100
93589	CACNA2D4	HP:0000540	Hypermetropia	HP:0040283	ORPHA:215
93589	CACNA2D4	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
93589	CACNA2D4	HP:0000551	Color vision defect	HP:0040284	ORPHA:215
93589	CACNA2D4	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:610478
93589	CACNA2D4	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
93589	CACNA2D4	HP:0000543	Optic disc pallor	1/1	OMIM:180100
93589	CACNA2D4	HP:0000545	Myopia	-	OMIM:180100
93589	CACNA2D4	HP:0000545	Myopia	HP:0040281	ORPHA:215
93627	TBCK	HP:0001182	Tapered finger	1/2	OMIM:616900
93627	TBCK	HP:0002465	Poor speech	-	OMIM:616900
93627	TBCK	HP:0010945	Fetal pyelectasis	1/13	OMIM:616900
93627	TBCK	HP:0007302	Bipolar affective disorder	HP:0040284	ORPHA:488632
93627	TBCK	HP:0010884	Acromelia	8/8	OMIM:616900
93627	TBCK	HP:0001298	Encephalopathy	-	OMIM:616900
93627	TBCK	HP:0001290	Generalized hypotonia	6/6	OMIM:616900
93627	TBCK	HP:0001272	Cerebellar atrophy	1/6	OMIM:616900
93627	TBCK	HP:0001270	Motor delay	34/35	OMIM:616900
93627	TBCK	HP:0001284	Areflexia	8/8	OMIM:616900
93627	TBCK	HP:0001284	Areflexia	HP:0040282	ORPHA:488632
93627	TBCK	HP:0001250	Seizure	26/37	OMIM:616900
93627	TBCK	HP:0001250	Seizure	HP:0040282	ORPHA:488632
93627	TBCK	HP:0001252	Hypotonia	35/35	OMIM:616900
93627	TBCK	HP:0001265	Hyporeflexia	20/25	OMIM:616900
93627	TBCK	HP:0001263	Global developmental delay	32/32	OMIM:616900
93627	TBCK	HP:0007334	Bilateral tonic-clonic seizure with focal onset	2/2	OMIM:616900
93627	TBCK	HP:0002540	Inability to walk	HP:0040282	ORPHA:488632
93627	TBCK	HP:0002553	Highly arched eyebrow	9/12	OMIM:616900
93627	TBCK	HP:0002518	Abnormal periventricular white matter morphology	HP:0040282	ORPHA:488632
93627	TBCK	HP:0012020	Right aortic arch	1/5	OMIM:616900
93627	TBCK	HP:0000028	Cryptorchidism	3/5	OMIM:616900
93627	TBCK	HP:0000028	Cryptorchidism	HP:0040284	ORPHA:488632
93627	TBCK	HP:0031165	Multifocal seizures	HP:0040282	ORPHA:488632
93627	TBCK	HP:0033725	Thin corpus callosum	7/7	OMIM:616900
93627	TBCK	HP:0000011	Neurogenic bladder	HP:0040284	ORPHA:488632
93627	TBCK	HP:0001344	Absent speech	18/24	OMIM:616900
93627	TBCK	HP:0001338	Partial agenesis of the corpus callosum	1/6	OMIM:616900
93627	TBCK	HP:0000007	Autosomal recessive inheritance	-	OMIM:616900
93627	TBCK	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:616900
93627	TBCK	HP:0002650	Scoliosis	4/17	OMIM:616900
93627	TBCK	HP:0002650	Scoliosis	HP:0040283	ORPHA:488632
93627	TBCK	HP:0001321	Cerebellar hypoplasia	-	OMIM:616900
93627	TBCK	HP:0001319	Neonatal hypotonia	HP:0040281	ORPHA:488632
93627	TBCK	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:488632
93627	TBCK	HP:0000194	Open mouth	4/16	OMIM:616900
93627	TBCK	HP:0000158	Macroglossia	14/34	OMIM:616900
93627	TBCK	HP:0000158	Macroglossia	HP:0040283	ORPHA:488632
93627	TBCK	HP:0002705	High, narrow palate	HP:0040283	ORPHA:488632
93627	TBCK	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:488632
93627	TBCK	HP:0002750	Delayed skeletal maturation	2/2	OMIM:616900
93627	TBCK	HP:0004691	2-3 toe syndactyly	HP:0040284	ORPHA:488632
93627	TBCK	HP:0003327	Axial muscle weakness	2/2	OMIM:616900
93627	TBCK	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:488632
93627	TBCK	HP:0005964	Intermittent hypothermia	6/8	OMIM:616900
93627	TBCK	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:488632
93627	TBCK	HP:0002099	Asthma	HP:0040284	ORPHA:488632
93627	TBCK	HP:0002093	Respiratory insufficiency	10/15	OMIM:616900
93627	TBCK	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:488632
93627	TBCK	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:488632
93627	TBCK	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:616900
93627	TBCK	HP:0002045	Hypothermia	HP:0040283	ORPHA:488632
93627	TBCK	HP:0002058	Myopathic facies	1/6	OMIM:616900
93627	TBCK	HP:0002059	Cerebral atrophy	-	OMIM:616900
93627	TBCK	HP:0011734	Central adrenal insufficiency	HP:0040284	ORPHA:488632
93627	TBCK	HP:0008180	Mildly elevated creatine kinase	2/2	OMIM:616900
93627	TBCK	HP:0002155	Hypertriglyceridemia	3/6	OMIM:616900
93627	TBCK	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:488632
93627	TBCK	HP:0002119	Ventriculomegaly	7/7	OMIM:616900
93627	TBCK	HP:0002133	Status epilepticus	0/11	OMIM:616900
93627	TBCK	HP:0003444	EMG: chronic denervation signs	5/9	OMIM:616900
93627	TBCK	HP:0003444	EMG: chronic denervation signs	HP:0040281	ORPHA:488632
93627	TBCK	HP:0002187	Intellectual disability, profound	14/14	OMIM:616900
93627	TBCK	HP:0002263	Exaggerated cupid's bow	6/7	OMIM:616900
93627	TBCK	HP:0003593	Infantile onset	7/20	OMIM:616900
93627	TBCK	HP:0003577	Congenital onset	12/15	OMIM:616900
93627	TBCK	HP:0100704	Cerebral visual impairment	6/12	OMIM:616900
93627	TBCK	HP:0003557	Increased variability in muscle fiber diameter	2/2	OMIM:616900
93627	TBCK	HP:0002283	Global brain atrophy	8/21	OMIM:616900
93627	TBCK	HP:0002283	Global brain atrophy	HP:0040282	ORPHA:488632
93627	TBCK	HP:0002280	Enlarged cisterna magna	1/1	OMIM:616900
93627	TBCK	HP:0011968	Feeding difficulties	3/3	OMIM:616900
93627	TBCK	HP:0033383	Decreased compound muscle action potential amplitude	3/7	OMIM:616900
93627	TBCK	HP:0003693	Distal amyotrophy	8/8	OMIM:616900
93627	TBCK	HP:0003690	Limb muscle weakness	10/10	OMIM:616900
93627	TBCK	HP:0002376	Developmental regression	11/34	OMIM:616900
93627	TBCK	HP:0002376	Developmental regression	HP:0040283	ORPHA:488632
93627	TBCK	HP:0001007	Hirsutism	4/22	OMIM:616900
93627	TBCK	HP:0001007	Hirsutism	HP:0040283	ORPHA:488632
93627	TBCK	HP:0010841	Multifocal epileptiform discharges	6/11	OMIM:616900
93627	TBCK	HP:0009826	Limb undergrowth	6/8	OMIM:616900
93627	TBCK	HP:0009826	Limb undergrowth	HP:0040283	ORPHA:488632
93627	TBCK	HP:0010804	Tented upper lip vermilion	7/21	OMIM:616900
93627	TBCK	HP:0010804	Tented upper lip vermilion	HP:0040283	ORPHA:488632
93627	TBCK	HP:0033454	Tube feeding	7/10	OMIM:616900
93627	TBCK	HP:0003623	Neonatal onset	4/5	OMIM:616900
93627	TBCK	HP:0006829	Severe muscular hypotonia	5/5	OMIM:616900
93627	TBCK	HP:0006829	Severe muscular hypotonia	HP:0040281	ORPHA:488632
93627	TBCK	HP:0000639	Nystagmus	2/6	OMIM:616900
93627	TBCK	HP:0000639	Nystagmus	HP:0040284	ORPHA:488632
93627	TBCK	HP:0012697	Small basal ganglia	-	OMIM:616900
93627	TBCK	HP:0011344	Severe global developmental delay	HP:0040282	ORPHA:488632
93627	TBCK	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:488632
93627	TBCK	HP:0000664	Synophrys	1/15	OMIM:616900
93627	TBCK	HP:0000664	Synophrys	HP:0040284	ORPHA:488632
93627	TBCK	HP:0006989	Dysplastic corpus callosum	-	OMIM:616900
93627	TBCK	HP:0006970	Periventricular leukomalacia	2/15	OMIM:616900
93627	TBCK	HP:0012736	Profound global developmental delay	5/5	OMIM:616900
93627	TBCK	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:488632
93627	TBCK	HP:0000767	Pectus excavatum	1/1	OMIM:616900
93627	TBCK	HP:0000750	Delayed speech and language development	7/7	OMIM:616900
93627	TBCK	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:488632
93627	TBCK	HP:0012708	Reduced brain N-acetyl aspartate level by MRS	3/3	OMIM:616900
93627	TBCK	HP:0000717	Autism	HP:0040284	ORPHA:488632
93627	TBCK	HP:0011471	Gastrostomy tube feeding in infancy	5/5	OMIM:616900
93627	TBCK	HP:0003124	Hypercholesterolemia	3/6	OMIM:616900
93627	TBCK	HP:0003119	Abnormal circulating lipid concentration	HP:0040282	ORPHA:488632
93627	TBCK	HP:0000878	11 pairs of ribs	2/18	OMIM:616900
93627	TBCK	HP:0000878	11 pairs of ribs	HP:0040284	ORPHA:488632
93627	TBCK	HP:0000836	Hyperthyroidism	HP:0040284	ORPHA:488632
93627	TBCK	HP:0000821	Hypothyroidism	3/7	OMIM:616900
93627	TBCK	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:488632
93627	TBCK	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040284	ORPHA:488632
93627	TBCK	HP:0030890	Hyperintensity of cerebral white matter on MRI	6/6	OMIM:616900
93627	TBCK	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:488632
93627	TBCK	HP:0034392	Joint contracture	1/2	OMIM:616900
93627	TBCK	HP:0100288	EMG: myokymic discharges	HP:0040283	ORPHA:488632
93627	TBCK	HP:0100288	EMG: myokymic discharges	1/2	OMIM:616900
93627	TBCK	HP:0000954	Single transverse palmar crease	3/3	OMIM:616900
93627	TBCK	HP:0000964	Eczematoid dermatitis	HP:0040284	ORPHA:488632
93627	TBCK	HP:0000939	Osteoporosis	9/12	OMIM:616900
93627	TBCK	HP:0000939	Osteoporosis	HP:0040283	ORPHA:488632
93627	TBCK	HP:0000286	Epicanthus	2/15	OMIM:616900
93627	TBCK	HP:0000286	Epicanthus	HP:0040283	ORPHA:488632
93627	TBCK	HP:0000280	Coarse facial features	17/34	OMIM:616900
93627	TBCK	HP:0000280	Coarse facial features	HP:0040282	ORPHA:488632
93627	TBCK	HP:0000262	Turricephaly	1/6	OMIM:616900
93627	TBCK	HP:0000256	Macrocephaly	HP:0040283	ORPHA:488632
93627	TBCK	HP:0000256	Macrocephaly	6/17	OMIM:616900
93627	TBCK	HP:0030084	Clinodactyly	HP:0040284	ORPHA:488632
93627	TBCK	HP:0000238	Hydrocephalus	2/6	OMIM:616900
93627	TBCK	HP:0000252	Microcephaly	1/26	OMIM:616900
93627	TBCK	HP:0000252	Microcephaly	HP:0040284	ORPHA:488632
93627	TBCK	HP:0000248	Brachycephaly	5/6	OMIM:616900
93627	TBCK	HP:0000218	High palate	2/6	OMIM:616900
93627	TBCK	HP:0000212	Gingival overgrowth	2/5	OMIM:616900
93627	TBCK	HP:0001562	Oligohydramnios	1/11	OMIM:616900
93627	TBCK	HP:0001562	Oligohydramnios	HP:0040284	ORPHA:488632
93627	TBCK	HP:0001561	Polyhydramnios	1/6	OMIM:616900
93627	TBCK	HP:0001558	Decreased fetal movement	1/6	OMIM:616900
93627	TBCK	HP:0001540	Diastasis recti	HP:0040284	ORPHA:488632
93627	TBCK	HP:0001500	Broad finger	HP:0040284	ORPHA:488632
93627	TBCK	HP:0001500	Broad finger	1/13	OMIM:616900
93627	TBCK	HP:0000365	Hearing impairment	1/24	OMIM:616900
93627	TBCK	HP:0000369	Low-set ears	1/6	OMIM:616900
93627	TBCK	HP:0000341	Narrow forehead	14/16	OMIM:616900
93627	TBCK	HP:0000340	Sloping forehead	2/15	OMIM:616900
93627	TBCK	HP:0000340	Sloping forehead	HP:0040283	ORPHA:488632
93627	TBCK	HP:0000343	Long philtrum	HP:0040284	ORPHA:488632
93627	TBCK	HP:0000343	Long philtrum	3/16	OMIM:616900
93627	TBCK	HP:0000337	Broad forehead	2/14	OMIM:616900
93627	TBCK	HP:0000337	Broad forehead	HP:0040283	ORPHA:488632
93627	TBCK	HP:0000347	Micrognathia	1/6	OMIM:616900
93627	TBCK	HP:0000316	Hypertelorism	1/2	OMIM:616900
93627	TBCK	HP:0001642	Pulmonic stenosis	HP:0040284	ORPHA:488632
93627	TBCK	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:488632
93627	TBCK	HP:0000303	Mandibular prognathia	1/14	OMIM:616900
93627	TBCK	HP:0000303	Mandibular prognathia	HP:0040284	ORPHA:488632
93627	TBCK	HP:0007957	Corneal opacity	1/13	OMIM:616900
93627	TBCK	HP:0007957	Corneal opacity	HP:0040284	ORPHA:488632
93627	TBCK	HP:0011198	EEG with generalized epileptiform discharges	HP:0040283	ORPHA:488632
93627	TBCK	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:488632
93627	TBCK	HP:0000486	Strabismus	7/11	OMIM:616900
93627	TBCK	HP:0000486	Strabismus	HP:0040284	ORPHA:488632
93627	TBCK	HP:0012471	Thick vermilion border	2/15	OMIM:616900
93627	TBCK	HP:0000490	Deeply set eye	6/21	OMIM:616900
93627	TBCK	HP:0000490	Deeply set eye	HP:0040284	ORPHA:488632
93627	TBCK	HP:0000463	Anteverted nares	4/7	OMIM:616900
93627	TBCK	HP:0012444	Brain atrophy	-	OMIM:616900
93627	TBCK	HP:0000470	Short neck	HP:0040284	ORPHA:488632
93627	TBCK	HP:0000470	Short neck	1/13	OMIM:616900
93627	TBCK	HP:0000414	Bulbous nose	3/15	OMIM:616900
93627	TBCK	HP:0000414	Bulbous nose	HP:0040283	ORPHA:488632
93627	TBCK	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:488632
93627	TBCK	HP:0000431	Wide nasal bridge	1/15	OMIM:616900
93627	TBCK	HP:0000426	Prominent nasal bridge	5/7	OMIM:616900
93627	TBCK	HP:0005487	Prominent metopic ridge	2/21	OMIM:616900
93627	TBCK	HP:0005487	Prominent metopic ridge	HP:0040284	ORPHA:488632
93627	TBCK	HP:0000518	Cataract	1/5	OMIM:616900
93627	TBCK	HP:0001845	Overlapping toe	3/3	OMIM:616900
93627	TBCK	HP:0000527	Long eyelashes	1/14	OMIM:616900
93627	TBCK	HP:0000520	Proptosis	3/3	OMIM:616900
93627	TBCK	HP:0001837	Broad toe	HP:0040284	ORPHA:488632
93627	TBCK	HP:0001837	Broad toe	1/13	OMIM:616900
93627	TBCK	HP:0000508	Ptosis	1/5	OMIM:616900
93627	TBCK	HP:0000582	Upslanted palpebral fissure	HP:0040284	ORPHA:488632
93627	TBCK	HP:0000582	Upslanted palpebral fissure	1/15	OMIM:616900
93627	TBCK	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:488632
93627	TBCK	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:488632
93627	TBCK	HP:0000565	Esotropia	1/5	OMIM:616900
93627	TBCK	HP:0012510	Extra-axial cerebrospinal fluid accumulation	5/5	OMIM:616900
93649	MYOCD	HP:0003774	Stage 5 chronic kidney disease	1/14	OMIM:618719
93649	MYOCD	HP:0010956	Fetal megacystis	13/14	OMIM:618719
93649	MYOCD	HP:0000006	Autosomal dominant inheritance	-	OMIM:618719
93649	MYOCD	HP:0004719	Hyperechogenic kidneys	2/14	OMIM:618719
93649	MYOCD	HP:0100611	Multiple glomerular cysts	1/14	OMIM:618719
93649	MYOCD	HP:0011664	Left ventricular noncompaction cardiomyopathy	1/14	OMIM:618719
93649	MYOCD	HP:0001647	Bicuspid aortic valve	1/14	OMIM:618719
93649	MYOCD	HP:0001643	Patent ductus arteriosus	1/14	OMIM:618719
93649	MYOCD	HP:0001629	Ventricular septal defect	2/14	OMIM:618719
93649	MYOCD	HP:0001631	Atrial septal defect	1/14	OMIM:618719
93650	ACP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:617297
93650	ACP4	HP:0006297	Enamel hypoplasia	-	OMIM:617297
93650	ACP4	HP:0000687	Widely spaced teeth	-	OMIM:617297
93650	ACP4	HP:0000670	Carious teeth	1/11	OMIM:617297
93650	ACP4	HP:0000705	Amelogenesis imperfecta	-	OMIM:617297
93650	ACP4	HP:0010299	Abnormal dentin morphology	0/11	OMIM:617297
93650	ACP4	HP:0011094	Increased overbite	1/11	OMIM:617297
93953	GCNA	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
93953	GCNA	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
93953	GCNA	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
93953	GCNA	HP:0000027	Azoospermia	5/7	OMIM:301077
93953	GCNA	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
93953	GCNA	HP:0001417	X-linked inheritance	-	OMIM:301077
93953	GCNA	HP:0008232	Elevated circulating follicle stimulating hormone level	5/7	OMIM:301077
93953	GCNA	HP:0011969	Elevated circulating luteinizing hormone level	1/7	OMIM:301077
93953	GCNA	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
93953	GCNA	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
93953	GCNA	HP:0011462	Young adult onset	7/7	OMIM:301077
93953	GCNA	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
93953	GCNA	HP:0040086	Abnormal prolactin level	0/7	OMIM:301077
93953	GCNA	HP:0003251	Male infertility	7/7	OMIM:301077
93953	GCNA	HP:0040171	Decreased serum testosterone concentration	3/7	OMIM:301077
93986	FOXP2	HP:0002465	Poor speech	HP:0040282	ORPHA:209908
93986	FOXP2	HP:0002474	Expressive language delay	HP:0040282	ORPHA:209908
93986	FOXP2	HP:0007301	Oromotor apraxia	-	OMIM:602081
93986	FOXP2	HP:0025160	Abnormal temper tantrums	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0008586	Hypoplasia of the cochlea	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0010863	Receptive language delay	HP:0040282	ORPHA:209908
93986	FOXP2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0001260	Dysarthria	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0001260	Dysarthria	HP:0040282	ORPHA:209908
93986	FOXP2	HP:0001212	Prominent fingertip pads	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0002546	Incomprehensible speech	HP:0040282	ORPHA:209908
93986	FOXP2	HP:0002546	Incomprehensible speech	-	OMIM:602081
93986	FOXP2	HP:0012023	Galactosuria	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0001328	Specific learning disability	HP:0040282	ORPHA:209908
93986	FOXP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:602081
93986	FOXP2	HP:0002650	Scoliosis	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0000176	Submucous cleft hard palate	HP:0040284	ORPHA:209908
93986	FOXP2	HP:0012146	Abnormality of von Willebrand factor	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0000154	Wide mouth	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0410018	Recurrent ear infections	HP:0040282	ORPHA:251061
93986	FOXP2	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0002705	High, narrow palate	HP:0040284	ORPHA:209908
93986	FOXP2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0002015	Dysphagia	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0040326	Hypoplasia of the olfactory bulb	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0002099	Asthma	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0002134	Abnormal basal ganglia morphology	-	OMIM:602081
93986	FOXP2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:209908
93986	FOXP2	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0010677	Enuresis nocturna	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0007010	Poor fine motor coordination	HP:0040282	ORPHA:209908
93986	FOXP2	HP:0007015	Poor gross motor coordination	HP:0040283	ORPHA:209908
93986	FOXP2	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:209908
93986	FOXP2	HP:0020045	Esodeviation	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0002340	Caudate atrophy	HP:0040283	ORPHA:209908
93986	FOXP2	HP:0002339	Abnormal caudate nucleus morphology	HP:0040283	ORPHA:209908
93986	FOXP2	HP:0002307	Drooling	HP:0040283	ORPHA:209908
93986	FOXP2	HP:0011388	Enlarged cochlear aqueduct	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0011382	Hypoplasia of the semicircular canal	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0011344	Severe global developmental delay	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0006977	Deficit in grammar	HP:0040282	ORPHA:209908
93986	FOXP2	HP:0006977	Deficit in grammar	-	OMIM:602081
93986	FOXP2	HP:0012745	Short palpebral fissure	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0000752	Hyperactivity	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0000736	Short attention span	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:251061
93986	FOXP2	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:209908
93986	FOXP2	HP:0000750	Delayed speech and language development	-	OMIM:602081
93986	FOXP2	HP:0000729	Autistic behavior	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0000729	Autistic behavior	HP:0040284	ORPHA:209908
93986	FOXP2	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0011474	Childhood onset sensorineural hearing impairment	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0011463	Childhood onset	-	OMIM:602081
93986	FOXP2	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0012811	Wide nasal ridge	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0040022	Clinodactyly of the 2nd finger	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0011648	Patent ductus arteriosus after birth at term	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0000286	Epicanthus	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0000256	Macrocephaly	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0011098	Speech apraxia	HP:0040282	ORPHA:209908
93986	FOXP2	HP:0011098	Speech apraxia	HP:0040282	ORPHA:251061
93986	FOXP2	HP:0000396	Overfolded helix	HP:0040284	ORPHA:209908
93986	FOXP2	HP:0001611	Hypernasal speech	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0031434	Abnormal prosody	HP:0040282	ORPHA:209908
93986	FOXP2	HP:0000369	Low-set ears	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0000343	Long philtrum	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0000473	Torticollis	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0012434	Delayed early-childhood social milestone development	HP:0040283	ORPHA:209908
93986	FOXP2	HP:0000448	Prominent nose	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0000506	Telecanthus	HP:0040283	ORPHA:251061
93986	FOXP2	HP:0011228	Horizontal eyebrow	HP:0040284	ORPHA:209908
94005	PIGS	HP:0001156	Brachydactyly	3/4	OMIM:618143
94005	PIGS	HP:0009882	Short distal phalanx of finger	1/6	OMIM:618143
94005	PIGS	HP:0010851	EEG with burst suppression	6/6	OMIM:618143
94005	PIGS	HP:0001290	Generalized hypotonia	4/4	OMIM:618143
94005	PIGS	HP:0001272	Cerebellar atrophy	2/4	OMIM:618143
94005	PIGS	HP:0001288	Gait disturbance	4/4	OMIM:618143
94005	PIGS	HP:0001250	Seizure	6/6	OMIM:618143
94005	PIGS	HP:0001251	Ataxia	4/4	OMIM:618143
94005	PIGS	HP:0001263	Global developmental delay	4/4	OMIM:618143
94005	PIGS	HP:0007359	Focal-onset seizure	3/6	OMIM:618143
94005	PIGS	HP:0002540	Inability to walk	4/4	OMIM:618143
94005	PIGS	HP:0002553	Highly arched eyebrow	4/4	OMIM:618143
94005	PIGS	HP:0001382	Joint hypermobility	2/4	OMIM:618143
94005	PIGS	HP:0000023	Inguinal hernia	1/4	OMIM:618143
94005	PIGS	HP:0000028	Cryptorchidism	1/4	OMIM:618143
94005	PIGS	HP:0031165	Multifocal seizures	4/6	OMIM:618143
94005	PIGS	HP:0001344	Absent speech	6/6	OMIM:618143
94005	PIGS	HP:0000007	Autosomal recessive inheritance	-	OMIM:618143
94005	PIGS	HP:0002650	Scoliosis	1/4	OMIM:618143
94005	PIGS	HP:0000158	Macroglossia	4/4	OMIM:618143
94005	PIGS	HP:0012110	Hypoplasia of the pons	4/6	OMIM:618143
94005	PIGS	HP:0002019	Constipation	1/4	OMIM:618143
94005	PIGS	HP:0004689	Short fourth metatarsal	2/4	OMIM:618143
94005	PIGS	HP:0002002	Deep philtrum	2/4	OMIM:618143
94005	PIGS	HP:0002069	Bilateral tonic-clonic seizure	4/6	OMIM:618143
94005	PIGS	HP:0002059	Cerebral atrophy	6/6	OMIM:618143
94005	PIGS	HP:0002120	Cerebral cortical atrophy	2/4	OMIM:618143
94005	PIGS	HP:0002133	Status epilepticus	5/6	OMIM:618143
94005	PIGS	HP:0011927	Short digit	1/4	OMIM:618143
94005	PIGS	HP:0002188	Delayed CNS myelination	1/6	OMIM:618143
94005	PIGS	HP:0003593	Infantile onset	6/6	OMIM:618143
94005	PIGS	HP:0002240	Hepatomegaly	2/4	OMIM:618143
94005	PIGS	HP:0100704	Cerebral visual impairment	3/4	OMIM:618143
94005	PIGS	HP:0011968	Feeding difficulties	4/4	OMIM:618143
94005	PIGS	HP:0004209	Clinodactyly of the 5th finger	4/4	OMIM:618143
94005	PIGS	HP:0006855	Cerebellar vermis atrophy	2/6	OMIM:618143
94005	PIGS	HP:0000639	Nystagmus	3/4	OMIM:618143
94005	PIGS	HP:0010044	Short 4th metacarpal	2/4	OMIM:618143
94005	PIGS	HP:0011344	Severe global developmental delay	6/6	OMIM:618143
94005	PIGS	HP:0000687	Widely spaced teeth	1/4	OMIM:618143
94005	PIGS	HP:0001989	Fetal akinesia sequence	2/6	OMIM:618143
94005	PIGS	HP:0000768	Pectus carinatum	2/4	OMIM:618143
94005	PIGS	HP:0000748	Inappropriate laughter	1/6	OMIM:618143
94005	PIGS	HP:0000729	Autistic behavior	2/6	OMIM:618143
94005	PIGS	HP:0003189	Long nose	1/6	OMIM:618143
94005	PIGS	HP:0003155	Elevated circulating alkaline phosphatase concentration	2/6	OMIM:618143
94005	PIGS	HP:0003282	Decreased circulating alkaline phosphatase activity	2/4	OMIM:618143
94005	PIGS	HP:0000954	Single transverse palmar crease	1/6	OMIM:618143
94005	PIGS	HP:0000280	Coarse facial features	9/10	OMIM:618143
94005	PIGS	HP:0002828	Multiple joint contractures	2/6	OMIM:618143
94005	PIGS	HP:0002804	Arthrogryposis multiplex congenita	2/6	OMIM:618143
94005	PIGS	HP:0000252	Microcephaly	8/10	OMIM:618143
94005	PIGS	HP:0000212	Gingival overgrowth	3/4	OMIM:618143
94005	PIGS	HP:0001537	Umbilical hernia	1/6	OMIM:618143
94005	PIGS	HP:0000384	Preauricular skin tag	1/4	OMIM:618143
94005	PIGS	HP:0000391	Thickened helices	4/4	OMIM:618143
94005	PIGS	HP:0000365	Hearing impairment	2/6	OMIM:618143
94005	PIGS	HP:0000358	Posteriorly rotated ears	1/6	OMIM:618143
94005	PIGS	HP:0000331	Short chin	1/5	OMIM:618143
94005	PIGS	HP:0001640	Cardiomegaly	1/4	OMIM:618143
94005	PIGS	HP:0030215	Inappropriate crying	1/6	OMIM:618143
94005	PIGS	HP:0000476	Cystic hygroma	1/4	OMIM:618143
94005	PIGS	HP:0000505	Visual impairment	3/6	OMIM:618143
94005	PIGS	HP:0011221	Vertical forehead creases	2/4	OMIM:618143
94025	MUC16	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
94025	MUC16	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
94025	MUC16	HP:0004467	Preauricular pit	-	OMIM:187500
94025	MUC16	HP:0000337	Broad forehead	-	OMIM:187500
94025	MUC16	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
94025	MUC16	HP:0000520	Proptosis	-	OMIM:187500
94137	RP1L1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
94137	RP1L1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
94137	RP1L1	HP:0003831	Typified by age-related disease onset	-	OMIM:613587
94137	RP1L1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
94137	RP1L1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618826
94137	RP1L1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
94137	RP1L1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613587
94137	RP1L1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
94137	RP1L1	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
94137	RP1L1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
94137	RP1L1	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
94137	RP1L1	HP:0007663	Reduced visual acuity	4/4	OMIM:618826
94137	RP1L1	HP:0003596	Middle age onset	3/16	OMIM:613587
94137	RP1L1	HP:0003623	Neonatal onset	1/1	OMIM:618826
94137	RP1L1	HP:0003621	Juvenile onset	8/19	OMIM:180100
94137	RP1L1	HP:0003621	Juvenile onset	5/16	OMIM:613587
94137	RP1L1	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
94137	RP1L1	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
94137	RP1L1	HP:0000618	Blindness	HP:0040281	ORPHA:791
94137	RP1L1	HP:0000613	Photophobia	HP:0040281	ORPHA:791
94137	RP1L1	HP:0000608	Macular degeneration	1/1	OMIM:618826
94137	RP1L1	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
94137	RP1L1	HP:0030468	Abnormal multifocal electroretinogram	-	OMIM:613587
94137	RP1L1	HP:0030466	Abnormal full-field electroretinogram	0/16	OMIM:613587
94137	RP1L1	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
94137	RP1L1	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
94137	RP1L1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
94137	RP1L1	HP:0000662	Nyctalopia	3/3	OMIM:618826
94137	RP1L1	HP:0000662	Nyctalopia	26/28	OMIM:180100
94137	RP1L1	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
94137	RP1L1	HP:0030604	Abnormal fundus fluorescein angiography	0/16	OMIM:613587
94137	RP1L1	HP:0011463	Childhood onset	3/19	OMIM:180100
94137	RP1L1	HP:0011462	Young adult onset	8/19	OMIM:180100
94137	RP1L1	HP:0011462	Young adult onset	8/16	OMIM:613587
94137	RP1L1	HP:0030786	Photopsia	HP:0040283	ORPHA:791
94137	RP1L1	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
94137	RP1L1	HP:0011505	Cystoid macular edema	-	OMIM:618826
94137	RP1L1	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
94137	RP1L1	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
94137	RP1L1	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
94137	RP1L1	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
94137	RP1L1	HP:0007754	Macular dystrophy	HP:0040281	OMIM:613587
94137	RP1L1	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
94137	RP1L1	HP:0007737	Bone spicule pigmentation of the retina	3/3	OMIM:618826
94137	RP1L1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
94137	RP1L1	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
94137	RP1L1	HP:0007843	Attenuation of retinal blood vessels	4/4	OMIM:618826
94137	RP1L1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
94137	RP1L1	HP:0007924	Slow decrease in visual acuity	-	OMIM:613587
94137	RP1L1	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
94137	RP1L1	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
94137	RP1L1	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
94137	RP1L1	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
94137	RP1L1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
94137	RP1L1	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
94137	RP1L1	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
94137	RP1L1	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
94137	RP1L1	HP:0000575	Scotoma	5/18	OMIM:180100
94137	RP1L1	HP:0000577	Exotropia	1/1	OMIM:618826
94137	RP1L1	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
94137	RP1L1	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
94137	RP1L1	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
94137	RP1L1	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
94137	RP1L1	HP:0000543	Optic disc pallor	4/4	OMIM:618826
94137	RP1L1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
94137	RP1L1	HP:0000545	Myopia	-	OMIM:180100
95681	CEP41	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
95681	CEP41	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:220493
95681	CEP41	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
95681	CEP41	HP:0002419	Molar tooth sign on MRI	4/4	OMIM:614464
95681	CEP41	HP:0002419	Molar tooth sign on MRI	HP:0040281	ORPHA:220493
95681	CEP41	HP:0001290	Generalized hypotonia	-	OMIM:614464
95681	CEP41	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220493
95681	CEP41	HP:0001288	Gait disturbance	HP:0040282	ORPHA:220493
95681	CEP41	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
95681	CEP41	HP:0001250	Seizure	HP:0040283	ORPHA:220493
95681	CEP41	HP:0001250	Seizure	HP:0040283	ORPHA:475
95681	CEP41	HP:0001252	Hypotonia	HP:0040281	ORPHA:220493
95681	CEP41	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
95681	CEP41	HP:0001252	Hypotonia	4/4	OMIM:614464
95681	CEP41	HP:0001251	Ataxia	HP:0040281	ORPHA:220493
95681	CEP41	HP:0001251	Ataxia	HP:0040281	ORPHA:475
95681	CEP41	HP:0001251	Ataxia	-	OMIM:614464
95681	CEP41	HP:0001249	Intellectual disability	HP:0040281	ORPHA:220493
95681	CEP41	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
95681	CEP41	HP:0001249	Intellectual disability	-	OMIM:614464
95681	CEP41	HP:0001263	Global developmental delay	HP:0040281	ORPHA:220493
95681	CEP41	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
95681	CEP41	HP:0001263	Global developmental delay	4/4	OMIM:614464
95681	CEP41	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
95681	CEP41	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:220493
95681	CEP41	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
95681	CEP41	HP:0000090	Nephronophthisis	0/4	OMIM:614464
95681	CEP41	HP:0000062	Ambiguous genitalia	HP:0040283	OMIM:614464
95681	CEP41	HP:0000054	Micropenis	-	OMIM:614464
95681	CEP41	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
95681	CEP41	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
95681	CEP41	HP:0000007	Autosomal recessive inheritance	-	OMIM:614464
95681	CEP41	HP:0001337	Tremor	HP:0040283	ORPHA:220493
95681	CEP41	HP:0001337	Tremor	HP:0040283	ORPHA:475
95681	CEP41	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
95681	CEP41	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:220493
95681	CEP41	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
95681	CEP41	HP:0002650	Scoliosis	HP:0040283	ORPHA:220493
95681	CEP41	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
95681	CEP41	HP:0000175	Cleft palate	HP:0040283	ORPHA:220493
95681	CEP41	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
95681	CEP41	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
95681	CEP41	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
95681	CEP41	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:220493
95681	CEP41	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
95681	CEP41	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
95681	CEP41	HP:0002084	Encephalocele	HP:0040283	ORPHA:220493
95681	CEP41	HP:0003468	Abnormal vertebral morphology	HP:0040283	ORPHA:220493
95681	CEP41	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:220493
95681	CEP41	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
95681	CEP41	HP:0002104	Apnea	HP:0040281	ORPHA:220493
95681	CEP41	HP:0002104	Apnea	HP:0040281	ORPHA:475
95681	CEP41	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
95681	CEP41	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:220493
95681	CEP41	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
95681	CEP41	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:220493
95681	CEP41	HP:0003621	Juvenile onset	8/19	OMIM:180100
95681	CEP41	HP:0000639	Nystagmus	HP:0040282	ORPHA:220493
95681	CEP41	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
95681	CEP41	HP:0000612	Iris coloboma	HP:0040283	ORPHA:220493
95681	CEP41	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
95681	CEP41	HP:0000662	Nyctalopia	26/28	OMIM:180100
95681	CEP41	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:220493
95681	CEP41	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
95681	CEP41	HP:0000657	Oculomotor apraxia	3/4	OMIM:614464
95681	CEP41	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:220493
95681	CEP41	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
95681	CEP41	HP:0011463	Childhood onset	3/19	OMIM:180100
95681	CEP41	HP:0011462	Young adult onset	8/19	OMIM:180100
95681	CEP41	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
95681	CEP41	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:220493
95681	CEP41	HP:0030769	Exencephaly	1/5	OMIM:614464
95681	CEP41	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
95681	CEP41	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:220493
95681	CEP41	HP:0100258	Preaxial polydactyly	1/5	OMIM:614464
95681	CEP41	HP:0000276	Long face	HP:0040282	ORPHA:220493
95681	CEP41	HP:0000276	Long face	HP:0040282	ORPHA:475
95681	CEP41	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
95681	CEP41	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220493
95681	CEP41	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
95681	CEP41	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
95681	CEP41	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
95681	CEP41	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:220493
95681	CEP41	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
95681	CEP41	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
95681	CEP41	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:220493
95681	CEP41	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
95681	CEP41	HP:0001651	Dextrocardia	HP:0040283	ORPHA:220493
95681	CEP41	HP:0000486	Strabismus	HP:0040283	ORPHA:220493
95681	CEP41	HP:0000486	Strabismus	HP:0040283	ORPHA:475
95681	CEP41	HP:0000480	Retinal coloboma	HP:0040283	ORPHA:220493
95681	CEP41	HP:0000488	Retinopathy	0/4	OMIM:614464
95681	CEP41	HP:0000463	Anteverted nares	HP:0040283	ORPHA:220493
95681	CEP41	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
95681	CEP41	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:220493
95681	CEP41	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
95681	CEP41	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
95681	CEP41	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
95681	CEP41	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:220493
95681	CEP41	HP:0000508	Ptosis	HP:0040283	ORPHA:220493
95681	CEP41	HP:0000508	Ptosis	HP:0040283	ORPHA:475
95681	CEP41	HP:0000575	Scotoma	5/18	OMIM:180100
95681	CEP41	HP:0000589	Coloboma	0/5	OMIM:614464
95681	CEP41	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:220493
95681	CEP41	HP:0000556	Retinal dystrophy	HP:0040283	OMIM:614464
95681	CEP41	HP:0000572	Visual loss	HP:0040283	ORPHA:220493
95681	CEP41	HP:0000543	Optic disc pallor	1/1	OMIM:180100
95681	CEP41	HP:0000545	Myopia	-	OMIM:180100
96459	FNIP1	HP:0010862	Delayed fine motor development	3/3	OMIM:619705
96459	FNIP1	HP:0033542	Bronchial wall thickening	1/3	OMIM:619705
96459	FNIP1	HP:0001263	Global developmental delay	1/3	OMIM:619705
96459	FNIP1	HP:0010976	Decreased total B cell count	2/3	OMIM:619705
96459	FNIP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619705
96459	FNIP1	HP:0002136	Broad-based gait	2/3	OMIM:619705
96459	FNIP1	HP:0002110	Bronchiectasis	1/3	OMIM:619705
96459	FNIP1	HP:0002194	Delayed gross motor development	3/3	OMIM:619705
96459	FNIP1	HP:0003593	Infantile onset	3/3	OMIM:619705
96459	FNIP1	HP:0004315	Decreased circulating IgG concentration	2/3	OMIM:619705
96459	FNIP1	HP:0004432	Agammaglobulinemia	3/3	OMIM:619705
96459	FNIP1	HP:0100280	Crohn's disease	1/3	OMIM:619705
96459	FNIP1	HP:0005133	Right ventricular dilatation	1/3	OMIM:619705
96459	FNIP1	HP:0002850	Decreased circulating total IgM	2/3	OMIM:619705
96459	FNIP1	HP:0012389	Appendicular hypotonia	2/3	OMIM:619705
96459	FNIP1	HP:0005180	Tricuspid regurgitation	1/3	OMIM:619705
96459	FNIP1	HP:0001639	Hypertrophic cardiomyopathy	6/6	OMIM:619705
96459	FNIP1	HP:0001716	Wolff-Parkinson-White syndrome	2/3	OMIM:619705
96459	FNIP1	HP:0030252	Absent circulating B cells	3/3	OMIM:619705
96459	FNIP1	HP:0030388	Decreased class-switched memory B cell proportion	2/3	OMIM:619705
96459	FNIP1	HP:0001875	Decreased total neutrophil count	2/3	OMIM:619705
112476	PRRT2	HP:0002487	Hyperkinetic movements	HP:0040282	ORPHA:98810
112476	PRRT2	HP:0002463	Language impairment	HP:0040283	ORPHA:569
112476	PRRT2	HP:0007240	Progressive gait ataxia	HP:0040282	ORPHA:569
112476	PRRT2	HP:0007209	Facial paralysis	HP:0040283	ORPHA:569
112476	PRRT2	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:36387
112476	PRRT2	HP:0001276	Hypertonia	HP:0040283	ORPHA:306
112476	PRRT2	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:569
112476	PRRT2	HP:0001269	Hemiparesis	HP:0040282	ORPHA:569
112476	PRRT2	HP:0001289	Confusion	HP:0040282	ORPHA:569
112476	PRRT2	HP:0001256	Intellectual disability, mild	HP:0040284	ORPHA:98811
112476	PRRT2	HP:0001250	Seizure	0/1	OMIM:128200
112476	PRRT2	HP:0001250	Seizure	HP:0040282	ORPHA:98811
112476	PRRT2	HP:0001250	Seizure	HP:0040282	ORPHA:31709
112476	PRRT2	HP:0001250	Seizure	HP:0040283	ORPHA:98809
112476	PRRT2	HP:0001252	Hypotonia	HP:0040283	ORPHA:36387
112476	PRRT2	HP:0001251	Ataxia	HP:0040283	ORPHA:98811
112476	PRRT2	HP:0001251	Ataxia	HP:0040283	ORPHA:36387
112476	PRRT2	HP:0001249	Intellectual disability	HP:0040284	ORPHA:569
112476	PRRT2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:98811
112476	PRRT2	HP:0001266	Choreoathetosis	HP:0040281	ORPHA:98811
112476	PRRT2	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:98810
112476	PRRT2	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:31709
112476	PRRT2	HP:0001260	Dysarthria	HP:0040282	ORPHA:569
112476	PRRT2	HP:0001259	Coma	HP:0040283	ORPHA:569
112476	PRRT2	HP:0008770	Obsessive-compulsive trait	HP:0040284	ORPHA:36387
112476	PRRT2	HP:0410263	Brain imaging abnormality	-	ORPHA:306
112476	PRRT2	HP:0410263	Brain imaging abnormality	-	ORPHA:31709
112476	PRRT2	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:306
112476	PRRT2	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:36387
112476	PRRT2	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:31709
112476	PRRT2	HP:0007359	Focal-onset seizure	-	OMIM:602066
112476	PRRT2	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040282	ORPHA:306
112476	PRRT2	HP:0002539	Cortical dysplasia	HP:0040283	ORPHA:36387
112476	PRRT2	HP:0003829	Typified by incomplete penetrance	-	OMIM:605751
112476	PRRT2	HP:0003829	Typified by incomplete penetrance	-	OMIM:128200
112476	PRRT2	HP:0012044	Seesaw nystagmus	HP:0040283	ORPHA:569
112476	PRRT2	HP:0001387	Joint stiffness	HP:0040283	ORPHA:98810
112476	PRRT2	HP:0032506	Alien limb phenomenon	HP:0040283	ORPHA:569
112476	PRRT2	HP:0012002	Experiential epileptic aura	HP:0040283	ORPHA:31709
112476	PRRT2	HP:0031179	Nuchal rigidity	HP:0040283	ORPHA:569
112476	PRRT2	HP:0001332	Dystonia	HP:0040281	ORPHA:98811
112476	PRRT2	HP:0001332	Dystonia	HP:0040281	ORPHA:98810
112476	PRRT2	HP:0001332	Dystonia	HP:0040282	ORPHA:31709
112476	PRRT2	HP:0001332	Dystonia	HP:0040281	ORPHA:98809
112476	PRRT2	HP:0001328	Specific learning disability	HP:0040283	ORPHA:98811
112476	PRRT2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:569
112476	PRRT2	HP:0001337	Tremor	HP:0040284	ORPHA:36387
112476	PRRT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:128200
112476	PRRT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:605751
112476	PRRT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:602066
112476	PRRT2	HP:0001308	Tongue fasciculations	HP:0040282	ORPHA:569
112476	PRRT2	HP:0001304	Torsion dystonia	HP:0040282	ORPHA:98811
112476	PRRT2	HP:0008959	Distal upper limb muscle weakness	HP:0040283	ORPHA:569
112476	PRRT2	HP:0025401	Staring gaze	HP:0040283	ORPHA:98810
112476	PRRT2	HP:0004684	Talipes valgus	HP:0040284	ORPHA:36387
112476	PRRT2	HP:0003324	Generalized muscle weakness	HP:0040283	ORPHA:98810
112476	PRRT2	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:36387
112476	PRRT2	HP:0002094	Dyspnea	HP:0040283	ORPHA:98810
112476	PRRT2	HP:0002069	Bilateral tonic-clonic seizure	46/60	OMIM:605751
112476	PRRT2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:36387
112476	PRRT2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:306
112476	PRRT2	HP:0002067	Bradykinesia	HP:0040284	ORPHA:36387
112476	PRRT2	HP:0002063	Rigidity	HP:0040283	ORPHA:98810
112476	PRRT2	HP:0003392	First dorsal interossei muscle weakness	HP:0040284	ORPHA:569
112476	PRRT2	HP:0002061	Lower limb spasticity	HP:0040284	ORPHA:98811
112476	PRRT2	HP:0002076	Migraine	6/67	OMIM:605751
112476	PRRT2	HP:0002076	Migraine	HP:0040283	ORPHA:98809
112476	PRRT2	HP:0002077	Migraine with aura	HP:0040281	ORPHA:569
112476	PRRT2	HP:0002072	Chorea	HP:0040283	ORPHA:98811
112476	PRRT2	HP:0002072	Chorea	HP:0040282	ORPHA:98810
112476	PRRT2	HP:0002072	Chorea	HP:0040281	ORPHA:98809
112476	PRRT2	HP:0002072	Chorea	HP:0040282	ORPHA:31709
112476	PRRT2	HP:0100576	Amaurosis fugax	HP:0040284	ORPHA:569
112476	PRRT2	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:36387
112476	PRRT2	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:306
112476	PRRT2	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:98811
112476	PRRT2	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:36387
112476	PRRT2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:306
112476	PRRT2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:569
112476	PRRT2	HP:0002133	Status epilepticus	HP:0040284	ORPHA:36387
112476	PRRT2	HP:0002104	Apnea	HP:0040282	ORPHA:306
112476	PRRT2	HP:0002181	Cerebral edema	HP:0040282	ORPHA:569
112476	PRRT2	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:36387
112476	PRRT2	HP:0002197	Generalized-onset seizure	-	OMIM:602066
112476	PRRT2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:569
112476	PRRT2	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:98810
112476	PRRT2	HP:0002172	Postural instability	HP:0040282	ORPHA:569
112476	PRRT2	HP:0010544	Vertical nystagmus	HP:0040283	ORPHA:569
112476	PRRT2	HP:0003401	Paresthesia	HP:0040282	ORPHA:569
112476	PRRT2	HP:0003401	Paresthesia	HP:0040282	ORPHA:98811
112476	PRRT2	HP:0002268	Paroxysmal dystonia	1/1	OMIM:128200
112476	PRRT2	HP:0002268	Paroxysmal dystonia	23/24	OMIM:602066
112476	PRRT2	HP:0002266	Focal clonic seizure	HP:0040282	ORPHA:306
112476	PRRT2	HP:0003593	Infantile onset	67/67	OMIM:605751
112476	PRRT2	HP:0200149	CSF lymphocytic pleiocytosis	HP:0040282	ORPHA:569
112476	PRRT2	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:36387
112476	PRRT2	HP:0032044	Decreased vigilance	HP:0040283	ORPHA:569
112476	PRRT2	HP:0007098	Paroxysmal choreoathetosis	-	OMIM:128200
112476	PRRT2	HP:0007098	Paroxysmal choreoathetosis	10/24	OMIM:602066
112476	PRRT2	HP:0007058	Generalized cerebral atrophy/hypoplasia	HP:0040283	ORPHA:36387
112476	PRRT2	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:306
112476	PRRT2	HP:0002384	Focal impaired awareness seizure	21/60	OMIM:605751
112476	PRRT2	HP:0002384	Focal impaired awareness seizure	HP:0040284	ORPHA:36387
112476	PRRT2	HP:0002384	Focal impaired awareness seizure	HP:0040282	ORPHA:31709
112476	PRRT2	HP:0002381	Aphasia	HP:0040283	ORPHA:569
112476	PRRT2	HP:0002361	Psychomotor deterioration	-	ORPHA:306
112476	PRRT2	HP:0002376	Developmental regression	HP:0040283	ORPHA:36387
112476	PRRT2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2/60	OMIM:605751
112476	PRRT2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:36387
112476	PRRT2	HP:0002372	Normal interictal EEG	HP:0040281	ORPHA:31709
112476	PRRT2	HP:0002372	Normal interictal EEG	HP:0040281	ORPHA:306
112476	PRRT2	HP:0002372	Normal interictal EEG	-	OMIM:602066
112476	PRRT2	HP:0002356	Writer's cramp	HP:0040283	ORPHA:98809
112476	PRRT2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:569
112476	PRRT2	HP:0002321	Vertigo	HP:0040282	ORPHA:569
112476	PRRT2	HP:0010835	Dissociated sensory loss	HP:0040282	ORPHA:569
112476	PRRT2	HP:0010833	Spontaneous pain sensation	HP:0040283	ORPHA:569
112476	PRRT2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:98810
112476	PRRT2	HP:0100660	Dyskinesia	HP:0040281	ORPHA:98809
112476	PRRT2	HP:0010829	Impaired temperature sensation	HP:0040283	ORPHA:569
112476	PRRT2	HP:0010819	Atonic seizure	HP:0040283	ORPHA:36387
112476	PRRT2	HP:0010818	Generalized tonic seizure	HP:0040282	ORPHA:306
112476	PRRT2	HP:0007166	Paroxysmal dyskinesia	HP:0040282	ORPHA:31709
112476	PRRT2	HP:0007166	Paroxysmal dyskinesia	HP:0040281	ORPHA:98811
112476	PRRT2	HP:0007166	Paroxysmal dyskinesia	HP:0040281	ORPHA:98810
112476	PRRT2	HP:0100694	Tibial torsion	HP:0040284	ORPHA:36387
112476	PRRT2	HP:0002301	Hemiplegia	HP:0040283	ORPHA:569
112476	PRRT2	HP:0002311	Incoordination	HP:0040283	ORPHA:36387
112476	PRRT2	HP:0002310	Orofacial dyskinesia	-	OMIM:128200
112476	PRRT2	HP:0002305	Athetosis	HP:0040281	ORPHA:98809
112476	PRRT2	HP:0002305	Athetosis	HP:0040282	ORPHA:31709
112476	PRRT2	HP:0003621	Juvenile onset	33/33	OMIM:128200
112476	PRRT2	HP:0003621	Juvenile onset	22/24	OMIM:602066
112476	PRRT2	HP:0006801	Hyperactive deep tendon reflexes	HP:0040282	ORPHA:98811
112476	PRRT2	HP:0000651	Diplopia	HP:0040282	ORPHA:569
112476	PRRT2	HP:0004305	Involuntary movements	HP:0040281	ORPHA:98809
112476	PRRT2	HP:0004305	Involuntary movements	HP:0040282	ORPHA:31709
112476	PRRT2	HP:0004305	Involuntary movements	HP:0040282	ORPHA:569
112476	PRRT2	HP:0004305	Involuntary movements	HP:0040282	ORPHA:98811
112476	PRRT2	HP:0004305	Involuntary movements	HP:0040282	ORPHA:98810
112476	PRRT2	HP:0003066	Limited knee extension	HP:0040284	ORPHA:36387
112476	PRRT2	HP:0000737	Irritability	HP:0040283	ORPHA:98811
112476	PRRT2	HP:0000739	Anxiety	HP:0040284	ORPHA:36387
112476	PRRT2	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:98811
112476	PRRT2	HP:0000729	Autistic behavior	HP:0040284	ORPHA:36387
112476	PRRT2	HP:0011468	Facial tics	HP:0040282	ORPHA:569
112476	PRRT2	HP:0012759	Neurodevelopmental abnormality	0/67	OMIM:605751
112476	PRRT2	HP:0012759	Neurodevelopmental abnormality	0/24	OMIM:602066
112476	PRRT2	HP:0030786	Photopsia	HP:0040282	ORPHA:569
112476	PRRT2	HP:0045084	Limb myoclonus	HP:0040283	ORPHA:306
112476	PRRT2	HP:0000961	Cyanosis	HP:0040283	ORPHA:306
112476	PRRT2	HP:0012229	CSF pleocytosis	HP:0040282	ORPHA:569
112476	PRRT2	HP:0032678	Eyelid myoclonia seizure	HP:0040283	ORPHA:306
112476	PRRT2	HP:0000211	Trismus	HP:0040283	ORPHA:98810
112476	PRRT2	HP:0032807	Neonatal seizure	HP:0040281	ORPHA:306
112476	PRRT2	HP:0032823	Neonatal electro-clinical seizure with behavior arrest	HP:0040283	ORPHA:306
112476	PRRT2	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:569
112476	PRRT2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:569
112476	PRRT2	HP:0000360	Tinnitus	HP:0040283	ORPHA:569
112476	PRRT2	HP:0032755	Focal impaired awareness autonomic seizure	HP:0040282	ORPHA:31709
112476	PRRT2	HP:0011196	EEG with focal sharp waves	HP:0040284	ORPHA:569
112476	PRRT2	HP:0011199	EEG with generalized sharp slow waves	HP:0040283	ORPHA:569
112476	PRRT2	HP:0011182	Interictal epileptiform activity	HP:0040284	ORPHA:306
112476	PRRT2	HP:0011169	Generalized clonic seizure	HP:0040282	ORPHA:306
112476	PRRT2	HP:0011172	Complex febrile seizure	HP:0040283	ORPHA:31709
112476	PRRT2	HP:0011172	Complex febrile seizure	HP:0040282	ORPHA:569
112476	PRRT2	HP:0011171	Simple febrile seizure	HP:0040284	ORPHA:306
112476	PRRT2	HP:0011157	Focal sensory seizure	HP:0040282	ORPHA:98809
112476	PRRT2	HP:0011157	Focal sensory seizure	10/24	OMIM:602066
112476	PRRT2	HP:0011157	Focal sensory seizure	HP:0040281	ORPHA:569
112476	PRRT2	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:306
112476	PRRT2	HP:0011151	Atypical absence status epilepticus	HP:0040283	ORPHA:36387
112476	PRRT2	HP:0011153	Focal motor seizure	HP:0040282	ORPHA:306
112476	PRRT2	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:569
112476	PRRT2	HP:0007979	Gaze-evoked horizontal nystagmus	HP:0040283	ORPHA:569
112476	PRRT2	HP:0032901	Focal pedal automatism seizure	HP:0040282	ORPHA:569
112476	PRRT2	HP:0032906	Focal head nodding automatism seizure	HP:0040283	ORPHA:306
112476	PRRT2	HP:0032900	Focal manual automatism seizure	HP:0040282	ORPHA:569
112476	PRRT2	HP:0012469	Infantile spasms	2/32	OMIM:128200
112476	PRRT2	HP:0012469	Infantile spasms	4/24	OMIM:602066
112476	PRRT2	HP:0000473	Torticollis	HP:0040283	ORPHA:98810
112476	PRRT2	HP:0001763	Pes planus	HP:0040284	ORPHA:36387
112476	PRRT2	HP:0025708	Early young adult onset	2/24	OMIM:602066
112476	PRRT2	HP:0012508	Metamorphopsia	HP:0040282	ORPHA:569
112476	PRRT2	HP:0000575	Scotoma	HP:0040282	ORPHA:569
112744	IL17F	HP:0100825	Cheilitis	HP:0040281	ORPHA:1334
112744	IL17F	HP:0001250	Seizure	HP:0040283	ORPHA:1334
112744	IL17F	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1334
112744	IL17F	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:1334
112744	IL17F	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:1334
112744	IL17F	HP:0000006	Autosomal dominant inheritance	-	OMIM:613956
112744	IL17F	HP:0000159	Abnormal lip morphology	HP:0040281	ORPHA:1334
112744	IL17F	HP:0000142	Abnormal vagina morphology	HP:0040282	ORPHA:1334
112744	IL17F	HP:0000153	Abnormality of the mouth	HP:0040281	ORPHA:1334
112744	IL17F	HP:0012115	Hepatitis	HP:0040283	ORPHA:1334
112744	IL17F	HP:0002719	Recurrent infections	HP:0040281	ORPHA:1334
112744	IL17F	HP:0002715	Abnormality of the immune system	HP:0040281	ORPHA:1334
112744	IL17F	HP:0002728	Chronic mucocutaneous candidiasis	-	OMIM:613956
112744	IL17F	HP:0002105	Hemoptysis	HP:0040283	ORPHA:1334
112744	IL17F	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:1334
112744	IL17F	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:1334
112744	IL17F	HP:0200034	Papule	HP:0040282	ORPHA:1334
112744	IL17F	HP:0200042	Skin ulcer	HP:0040281	ORPHA:1334
112744	IL17F	HP:0010783	Erythema	HP:0040281	ORPHA:1334
112744	IL17F	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:1334
112744	IL17F	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:1334
112744	IL17F	HP:0004370	Abnormality of temperature regulation	HP:0040283	ORPHA:1334
112744	IL17F	HP:0012735	Cough	HP:0040283	ORPHA:1334
112744	IL17F	HP:0000790	Hematuria	HP:0040283	ORPHA:1334
112744	IL17F	HP:0000989	Pruritus	HP:0040283	ORPHA:1334
112744	IL17F	HP:0000988	Skin rash	HP:0040281	ORPHA:1334
112744	IL17F	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:1334
112744	IL17F	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:1334
112744	IL17F	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:1334
112744	IL17F	HP:0030016	Dyspareunia	HP:0040282	ORPHA:1334
112744	IL17F	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:1334
112744	IL17F	HP:0001821	Broad nail	HP:0040281	ORPHA:1334
112744	IL17F	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1334
112752	IFT43	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1515
112752	IFT43	HP:0001156	Brachydactyly	2/2	OMIM:614099
112752	IFT43	HP:0001156	Brachydactyly	1/2	OMIM:617866
112752	IFT43	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
112752	IFT43	HP:0003774	Stage 5 chronic kidney disease	1/2	OMIM:614099
112752	IFT43	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
112752	IFT43	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:1515
112752	IFT43	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
112752	IFT43	HP:0001293	Cranial nerve compression	-	OMIM:131300
112752	IFT43	HP:0001252	Hypotonia	2/7	OMIM:615777
112752	IFT43	HP:0001249	Intellectual disability	5/7	OMIM:615777
112752	IFT43	HP:0001263	Global developmental delay	-	OMIM:615777
112752	IFT43	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:1515
112752	IFT43	HP:0002566	Intestinal malrotation	1/2	OMIM:617866
112752	IFT43	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:1515
112752	IFT43	HP:0002515	Waddling gait	54/102	OMIM:131300
112752	IFT43	HP:0000090	Nephronophthisis	2/2	OMIM:614099
112752	IFT43	HP:0001394	Cirrhosis	1/2	OMIM:614099
112752	IFT43	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1515
112752	IFT43	HP:0001382	Joint hypermobility	-	OMIM:614099
112752	IFT43	HP:0001382	Joint hypermobility	-	OMIM:615777
112752	IFT43	HP:0001363	Craniosynostosis	HP:0040282	ORPHA:1515
112752	IFT43	HP:0002694	Sclerosis of skull base	-	OMIM:131300
112752	IFT43	HP:0008897	Postnatal growth retardation	-	OMIM:615777
112752	IFT43	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
112752	IFT43	HP:0001324	Muscle weakness	40/96	OMIM:131300
112752	IFT43	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
112752	IFT43	HP:0000007	Autosomal recessive inheritance	-	OMIM:617866
112752	IFT43	HP:0000007	Autosomal recessive inheritance	-	OMIM:617871
112752	IFT43	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
112752	IFT43	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
112752	IFT43	HP:0000007	Autosomal recessive inheritance	-	OMIM:614099
112752	IFT43	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
112752	IFT43	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
112752	IFT43	HP:0002650	Scoliosis	12/14	OMIM:131300
112752	IFT43	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
112752	IFT43	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
112752	IFT43	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
112752	IFT43	HP:0008905	Rhizomelia	HP:0040281	ORPHA:1515
112752	IFT43	HP:0008905	Rhizomelia	2/2	OMIM:614099
112752	IFT43	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
112752	IFT43	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:1515
112752	IFT43	HP:0000175	Cleft palate	2/7	OMIM:615777
112752	IFT43	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
112752	IFT43	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
112752	IFT43	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
112752	IFT43	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
112752	IFT43	HP:0007663	Reduced visual acuity	-	OMIM:617871
112752	IFT43	HP:0000113	Polycystic kidney dysplasia	1/2	OMIM:617866
112752	IFT43	HP:0004691	2-3 toe syndactyly	1/2	OMIM:617866
112752	IFT43	HP:0004691	2-3 toe syndactyly	1/2	OMIM:614099
112752	IFT43	HP:0002007	Frontal bossing	HP:0040281	ORPHA:1515
112752	IFT43	HP:0002007	Frontal bossing	1/2	OMIM:614099
112752	IFT43	HP:0003388	Easy fatigability	36/76	OMIM:131300
112752	IFT43	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
112752	IFT43	HP:0002119	Ventriculomegaly	1/2	OMIM:617866
112752	IFT43	HP:0002190	Choroid plexus cyst	1/2	OMIM:617866
112752	IFT43	HP:0004719	Hyperechogenic kidneys	1/2	OMIM:617866
112752	IFT43	HP:0002213	Fine hair	-	OMIM:614099
112752	IFT43	HP:0010714	2-4 toe syndactyly	1/2	OMIM:614099
112752	IFT43	HP:0003510	Severe short stature	7/7	OMIM:615777
112752	IFT43	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:1515
112752	IFT43	HP:0002315	Headache	-	OMIM:131300
112752	IFT43	HP:0004976	Knee dislocation	6/7	OMIM:615777
112752	IFT43	HP:0009803	Short phalanx of finger	-	OMIM:615777
112752	IFT43	HP:0008499	High hypermetropia	HP:0040283	ORPHA:1515
112752	IFT43	HP:0009763	Limb pain	63/92	OMIM:131300
112752	IFT43	HP:0008422	Vertebral wedging	1/2	OMIM:617866
112752	IFT43	HP:0004969	Peripheral pulmonary artery stenosis	1/2	OMIM:614099
112752	IFT43	HP:0003621	Juvenile onset	8/19	OMIM:180100
112752	IFT43	HP:0003621	Juvenile onset	-	OMIM:131300
112752	IFT43	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
112752	IFT43	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:1515
112752	IFT43	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
112752	IFT43	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
112752	IFT43	HP:0000639	Nystagmus	HP:0040283	ORPHA:1515
112752	IFT43	HP:6001056	Out-toeing	-	OMIM:131300
112752	IFT43	HP:0000651	Diplopia	-	OMIM:131300
112752	IFT43	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
112752	IFT43	HP:0000618	Blindness	HP:0040281	ORPHA:791
112752	IFT43	HP:0000613	Photophobia	HP:0040281	ORPHA:791
112752	IFT43	HP:0001956	Truncal obesity	2/7	OMIM:615777
112752	IFT43	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
112752	IFT43	HP:0000601	Hypotelorism	HP:0040282	ORPHA:1515
112752	IFT43	HP:0001903	Anemia	HP:0040283	OMIM:131300
112752	IFT43	HP:0010049	Short metacarpal	-	OMIM:615777
112752	IFT43	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
112752	IFT43	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
112752	IFT43	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:1515
112752	IFT43	HP:0000679	Taurodontia	HP:0040283	ORPHA:1515
112752	IFT43	HP:0000678	Dental crowding	-	OMIM:615777
112752	IFT43	HP:0000691	Microdontia	HP:0040281	ORPHA:1515
112752	IFT43	HP:0000685	Hypoplasia of teeth	1/2	OMIM:614099
112752	IFT43	HP:0000687	Widely spaced teeth	2/2	OMIM:614099
112752	IFT43	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
112752	IFT43	HP:0000662	Nyctalopia	26/28	OMIM:180100
112752	IFT43	HP:0000662	Nyctalopia	4/4	OMIM:617871
112752	IFT43	HP:0000670	Carious teeth	-	OMIM:131300
112752	IFT43	HP:0011304	Broad thumb	2/7	OMIM:615777
112752	IFT43	HP:0000668	Hypodontia	HP:0040282	ORPHA:1515
112752	IFT43	HP:0000668	Hypodontia	-	OMIM:615777
112752	IFT43	HP:0000664	Synophrys	-	OMIM:615777
112752	IFT43	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
112752	IFT43	HP:0004322	Short stature	2/2	OMIM:614099
112752	IFT43	HP:0004396	Poor appetite	-	OMIM:131300
112752	IFT43	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
112752	IFT43	HP:0003031	Ulnar bowing	2/2	OMIM:617866
112752	IFT43	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
112752	IFT43	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
112752	IFT43	HP:0003026	Short long bone	7/7	OMIM:615777
112752	IFT43	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
112752	IFT43	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:1515
112752	IFT43	HP:0000767	Pectus excavatum	2/7	OMIM:615777
112752	IFT43	HP:0000768	Pectus carinatum	1/7	OMIM:615777
112752	IFT43	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
112752	IFT43	HP:0000750	Delayed speech and language development	-	OMIM:615777
112752	IFT43	HP:0011463	Childhood onset	3/19	OMIM:180100
112752	IFT43	HP:0011463	Childhood onset	4/4	OMIM:617871
112752	IFT43	HP:0011462	Young adult onset	8/19	OMIM:180100
112752	IFT43	HP:0011461	Fetal onset	7/7	OMIM:615777
112752	IFT43	HP:0000774	Narrow chest	HP:0040281	ORPHA:1515
112752	IFT43	HP:0000774	Narrow chest	2/2	OMIM:614099
112752	IFT43	HP:0000774	Narrow chest	2/7	OMIM:615777
112752	IFT43	HP:0000773	Short ribs	1/2	OMIM:617866
112752	IFT43	HP:0004442	Sagittal craniosynostosis	1/2	OMIM:614099
112752	IFT43	HP:0030786	Photopsia	HP:0040283	ORPHA:791
112752	IFT43	HP:0030799	Scaphocephaly	1/2	OMIM:614099
112752	IFT43	HP:0000926	Platyspondyly	1/7	OMIM:615777
112752	IFT43	HP:0000926	Platyspondyly	2/2	OMIM:617866
112752	IFT43	HP:0000921	Missing ribs	1/2	OMIM:617866
112752	IFT43	HP:0003175	Hypoplastic ischia	1/2	OMIM:617866
112752	IFT43	HP:0003180	Flat acetabular roof	-	OMIM:615777
112752	IFT43	HP:0004482	Relative macrocephaly	-	OMIM:615777
112752	IFT43	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
112752	IFT43	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
112752	IFT43	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
112752	IFT43	HP:0000823	Delayed puberty	-	OMIM:131300
112752	IFT43	HP:0000894	Short clavicles	-	OMIM:615777
112752	IFT43	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
112752	IFT43	HP:0100259	Postaxial polydactyly	1/2	OMIM:617866
112752	IFT43	HP:0100259	Postaxial polydactyly	1/2	OMIM:614099
112752	IFT43	HP:0100258	Preaxial polydactyly	1/2	OMIM:617866
112752	IFT43	HP:0000973	Cutis laxa	-	OMIM:614099
112752	IFT43	HP:0000958	Dry skin	-	OMIM:614099
112752	IFT43	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
112752	IFT43	HP:0000954	Single transverse palmar crease	1/2	OMIM:617866
112752	IFT43	HP:0000968	Ectodermal dysplasia	-	OMIM:614099
112752	IFT43	HP:0000939	Osteoporosis	HP:0040281	ORPHA:1515
112752	IFT43	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1515
112752	IFT43	HP:0000940	Abnormal diaphysis morphology	HP:0040281	ORPHA:1515
112752	IFT43	HP:0008070	Sparse hair	HP:0040281	ORPHA:1515
112752	IFT43	HP:0008070	Sparse hair	1/2	OMIM:614099
112752	IFT43	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
112752	IFT43	HP:0007722	Retinal pigment epithelial atrophy	2/4	OMIM:617871
112752	IFT43	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
112752	IFT43	HP:0000286	Epicanthus	1/2	OMIM:617866
112752	IFT43	HP:0000286	Epicanthus	HP:0040281	ORPHA:1515
112752	IFT43	HP:0000286	Epicanthus	1/7	OMIM:615777
112752	IFT43	HP:0000280	Coarse facial features	2/7	OMIM:615777
112752	IFT43	HP:0000256	Macrocephaly	1/2	OMIM:614099
112752	IFT43	HP:0000268	Dolichocephaly	HP:0040281	ORPHA:1515
112752	IFT43	HP:0000268	Dolichocephaly	HP:0040283	OMIM:614099
112752	IFT43	HP:0000268	Dolichocephaly	1/2	OMIM:617866
112752	IFT43	HP:0000269	Prominent occiput	HP:0040281	ORPHA:1515
112752	IFT43	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
112752	IFT43	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
112752	IFT43	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
112752	IFT43	HP:0007737	Bone spicule pigmentation of the retina	4/4	OMIM:617871
112752	IFT43	HP:0002827	Hip dislocation	3/7	OMIM:615777
112752	IFT43	HP:0000238	Hydrocephalus	1/2	OMIM:617866
112752	IFT43	HP:0000252	Microcephaly	-	OMIM:615777
112752	IFT43	HP:0000219	Thin upper lip vermilion	1/2	OMIM:617866
112752	IFT43	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:1515
112752	IFT43	HP:0000232	Everted lower lip vermilion	1/2	OMIM:614099
112752	IFT43	HP:0002857	Genu valgum	-	OMIM:131300
112752	IFT43	HP:0001533	Slender build	-	OMIM:131300
112752	IFT43	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
112752	IFT43	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
112752	IFT43	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
112752	IFT43	HP:0007843	Attenuation of retinal blood vessels	4/4	OMIM:617871
112752	IFT43	HP:0007807	Optic nerve compression	-	OMIM:131300
112752	IFT43	HP:0012368	Flat face	7/7	OMIM:615777
112752	IFT43	HP:0005257	Thoracic hypoplasia	2/2	OMIM:617866
112752	IFT43	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
112752	IFT43	HP:0000365	Hearing impairment	10/67	OMIM:131300
112752	IFT43	HP:0000343	Long philtrum	1/7	OMIM:615777
112752	IFT43	HP:0011001	Increased bone mineral density	-	OMIM:131300
112752	IFT43	HP:0000347	Micrognathia	1/2	OMIM:617866
112752	IFT43	HP:0000347	Micrognathia	1/2	OMIM:614099
112752	IFT43	HP:0002983	Micromelia	2/2	OMIM:617866
112752	IFT43	HP:0000316	Hypertelorism	1/2	OMIM:617866
112752	IFT43	HP:0000311	Round face	2/7	OMIM:615777
112752	IFT43	HP:0002986	Radial bowing	2/2	OMIM:617866
112752	IFT43	HP:0002970	Genu varum	-	OMIM:615777
112752	IFT43	HP:0000303	Mandibular prognathia	-	OMIM:131300
112752	IFT43	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
112752	IFT43	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
112752	IFT43	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
112752	IFT43	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
112752	IFT43	HP:0000476	Cystic hygroma	1/2	OMIM:617866
112752	IFT43	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1515
112752	IFT43	HP:0000470	Short neck	1/7	OMIM:615777
112752	IFT43	HP:0001799	Short nail	2/2	OMIM:614099
112752	IFT43	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
112752	IFT43	HP:0001769	Broad foot	HP:0040283	OMIM:615777
112752	IFT43	HP:0001763	Pes planus	1/7	OMIM:615777
112752	IFT43	HP:0005474	Decreased calvarial ossification	1/2	OMIM:617866
112752	IFT43	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
112752	IFT43	HP:0001840	Metatarsus adductus	-	OMIM:615777
112752	IFT43	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
112752	IFT43	HP:0001852	Sandal gap	1/2	OMIM:614099
112752	IFT43	HP:0000520	Proptosis	2/4	OMIM:131300
112752	IFT43	HP:0000520	Proptosis	7/7	OMIM:615777
112752	IFT43	HP:0001821	Broad nail	2/2	OMIM:614099
112752	IFT43	HP:0000506	Telecanthus	1/2	OMIM:614099
112752	IFT43	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
112752	IFT43	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
112752	IFT43	HP:0000575	Scotoma	5/18	OMIM:180100
112752	IFT43	HP:0000592	Blue sclerae	2/7	OMIM:615777
112752	IFT43	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
112752	IFT43	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
112752	IFT43	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
112752	IFT43	HP:0012514	Lower limb pain	4/4	OMIM:131300
112752	IFT43	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
112752	IFT43	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
112752	IFT43	HP:0000543	Optic disc pallor	1/1	OMIM:180100
112752	IFT43	HP:0000543	Optic disc pallor	4/4	OMIM:617871
112752	IFT43	HP:0000545	Myopia	HP:0040283	ORPHA:1515
112752	IFT43	HP:0000545	Myopia	-	OMIM:180100
112755	STX1B	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:36387
112755	STX1B	HP:0001252	Hypotonia	HP:0040283	ORPHA:36387
112755	STX1B	HP:0001251	Ataxia	HP:0040283	ORPHA:36387
112755	STX1B	HP:0001263	Global developmental delay	5/29	OMIM:616172
112755	STX1B	HP:0008770	Obsessive-compulsive trait	HP:0040284	ORPHA:36387
112755	STX1B	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:36387
112755	STX1B	HP:0002539	Cortical dysplasia	HP:0040283	ORPHA:36387
112755	STX1B	HP:0001337	Tremor	HP:0040284	ORPHA:36387
112755	STX1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:616172
112755	STX1B	HP:0004684	Talipes valgus	HP:0040284	ORPHA:36387
112755	STX1B	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:36387
112755	STX1B	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:36387
112755	STX1B	HP:0002069	Bilateral tonic-clonic seizure	10/29	OMIM:616172
112755	STX1B	HP:0002067	Bradykinesia	HP:0040284	ORPHA:36387
112755	STX1B	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:36387
112755	STX1B	HP:0002121	Generalized non-motor (absence) seizure	5/29	OMIM:616172
112755	STX1B	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:36387
112755	STX1B	HP:0002133	Status epilepticus	HP:0040284	ORPHA:36387
112755	STX1B	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:36387
112755	STX1B	HP:0003593	Infantile onset	2/25	OMIM:616172
112755	STX1B	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:36387
112755	STX1B	HP:0007058	Generalized cerebral atrophy/hypoplasia	HP:0040283	ORPHA:36387
112755	STX1B	HP:0002384	Focal impaired awareness seizure	4/29	OMIM:616172
112755	STX1B	HP:0002384	Focal impaired awareness seizure	HP:0040284	ORPHA:36387
112755	STX1B	HP:0002376	Developmental regression	HP:0040283	ORPHA:36387
112755	STX1B	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	20/27	OMIM:616172
112755	STX1B	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:36387
112755	STX1B	HP:0010819	Atonic seizure	3/29	OMIM:616172
112755	STX1B	HP:0010819	Atonic seizure	HP:0040283	ORPHA:36387
112755	STX1B	HP:0100694	Tibial torsion	HP:0040284	ORPHA:36387
112755	STX1B	HP:0002311	Incoordination	HP:0040283	ORPHA:36387
112755	STX1B	HP:0003621	Juvenile onset	1/25	OMIM:616172
112755	STX1B	HP:0003066	Limited knee extension	HP:0040284	ORPHA:36387
112755	STX1B	HP:0000739	Anxiety	HP:0040284	ORPHA:36387
112755	STX1B	HP:0000750	Delayed speech and language development	2/29	OMIM:616172
112755	STX1B	HP:0000729	Autistic behavior	HP:0040284	ORPHA:36387
112755	STX1B	HP:0011463	Childhood onset	22/25	OMIM:616172
112755	STX1B	HP:0032792	Tonic seizure	8/29	OMIM:616172
112755	STX1B	HP:0011151	Atypical absence status epilepticus	HP:0040283	ORPHA:36387
112755	STX1B	HP:0001763	Pes planus	HP:0040284	ORPHA:36387
112802	KRT71	HP:0000006	Autosomal dominant inheritance	-	OMIM:615896
112802	KRT71	HP:0003577	Congenital onset	3/3	OMIM:615896
112802	KRT71	HP:0002224	Woolly hair	HP:0040281	ORPHA:170
112802	KRT71	HP:0002224	Woolly hair	3/3	OMIM:615896
112802	KRT71	HP:0002217	Slow-growing hair	HP:0040282	ORPHA:170
112802	KRT71	HP:0002231	Sparse body hair	HP:0040283	ORPHA:170
112802	KRT71	HP:0002213	Fine hair	HP:0040281	ORPHA:170
112802	KRT71	HP:0010719	Abnormality of hair texture	HP:0040281	ORPHA:170
112802	KRT71	HP:0002299	Brittle hair	HP:0040281	ORPHA:170
112802	KRT71	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:170
112802	KRT71	HP:0000615	Abnormal pupil morphology	HP:0040283	ORPHA:170
112802	KRT71	HP:0000653	Sparse eyelashes	3/3	OMIM:615896
112802	KRT71	HP:0000971	Abnormal sweat gland morphology	0/3	OMIM:615896
112802	KRT71	HP:0008070	Sparse hair	3/3	OMIM:615896
112802	KRT71	HP:0006482	Abnormal dental morphology	0/3	OMIM:615896
112802	KRT71	HP:0005338	Sparse lateral eyebrow	HP:0040283	ORPHA:170
112802	KRT71	HP:0000486	Strabismus	HP:0040283	ORPHA:170
112802	KRT71	HP:0000479	Abnormal retinal morphology	HP:0040283	ORPHA:170
112802	KRT71	HP:0011121	Abnormal skin morphology	0/3	OMIM:615896
112802	KRT71	HP:0000518	Cataract	HP:0040283	ORPHA:170
112812	FDX2	HP:0003737	Mitochondrial myopathy	-	OMIM:251900
112812	FDX2	HP:0003701	Proximal muscle weakness	1/1	OMIM:251900
112812	FDX2	HP:0001290	Generalized hypotonia	-	OMIM:251900
112812	FDX2	HP:0001270	Motor delay	-	OMIM:251900
112812	FDX2	HP:0001288	Gait disturbance	-	OMIM:251900
112812	FDX2	HP:0001252	Hypotonia	-	OMIM:251900
112812	FDX2	HP:0001265	Hyporeflexia	-	OMIM:251900
112812	FDX2	HP:0001257	Spasticity	HP:0040284	OMIM:251900
112812	FDX2	HP:0007340	Lower limb muscle weakness	1/1	OMIM:251900
112812	FDX2	HP:0002515	Waddling gait	1/1	OMIM:251900
112812	FDX2	HP:0001347	Hyperreflexia	HP:0040284	OMIM:251900
112812	FDX2	HP:0001324	Muscle weakness	-	OMIM:251900
112812	FDX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:251900
112812	FDX2	HP:0000158	Macroglossia	-	OMIM:251900
112812	FDX2	HP:0001427	Mitochondrial inheritance	-	OMIM:251900
112812	FDX2	HP:0003325	Limb-girdle muscle weakness	1/1	OMIM:251900
112812	FDX2	HP:0003326	Myalgia	1/1	OMIM:251900
112812	FDX2	HP:0002094	Dyspnea	1/1	OMIM:251900
112812	FDX2	HP:0003394	Muscle spasm	1/1	OMIM:251900
112812	FDX2	HP:0003391	Gowers sign	1/1	OMIM:251900
112812	FDX2	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:251900
112812	FDX2	HP:0002240	Hepatomegaly	-	OMIM:251900
112812	FDX2	HP:0003535	3-Methylglutaconic aciduria	1/1	OMIM:251900
112812	FDX2	HP:0008314	Decreased activity of mitochondrial complex II	1/1	OMIM:251900
112812	FDX2	HP:0007141	Sensorimotor neuropathy	-	OMIM:251900
112812	FDX2	HP:0003621	Juvenile onset	1/1	OMIM:251900
112812	FDX2	HP:0000639	Nystagmus	HP:0040284	OMIM:251900
112812	FDX2	HP:0000648	Optic atrophy	HP:0040284	OMIM:251900
112812	FDX2	HP:0001935	Microcytic anemia	HP:0040284	OMIM:251900
112812	FDX2	HP:0003128	Lactic acidosis	1/1	OMIM:251900
112812	FDX2	HP:0000821	Hypothyroidism	HP:0040284	OMIM:251900
112812	FDX2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040284	OMIM:251900
112812	FDX2	HP:0003201	Rhabdomyolysis	HP:0040284	OMIM:251900
112812	FDX2	HP:0002919	Ketonuria	1/1	OMIM:251900
112812	FDX2	HP:0002913	Myoglobinuria	1/1	OMIM:251900
112812	FDX2	HP:0030234	Highly elevated creatine kinase	1/1	OMIM:251900
112812	FDX2	HP:0001761	Pes cavus	-	OMIM:251900
112812	FDX2	HP:0000508	Ptosis	-	OMIM:251900
112812	FDX2	HP:0000505	Visual impairment	HP:0040284	OMIM:251900
112812	FDX2	HP:0001875	Decreased total neutrophil count	HP:0040284	OMIM:251900
112817	HOGA1	HP:0008672	Calcium oxalate nephrolithiasis	-	OMIM:613616
112817	HOGA1	HP:0008672	Calcium oxalate nephrolithiasis	HP:0040281	ORPHA:93600
112817	HOGA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613616
112817	HOGA1	HP:0000121	Nephrocalcinosis	HP:0040281	ORPHA:93600
112817	HOGA1	HP:0100515	Pollakisuria	HP:0040281	ORPHA:93600
112817	HOGA1	HP:0100518	Dysuria	HP:0040281	ORPHA:93600
112817	HOGA1	HP:6001009	Increased urine 4-hydroxy-2-oxoglutarate level	-	OMIM:613616
112817	HOGA1	HP:0000790	Hematuria	HP:0040281	ORPHA:93600
112817	HOGA1	HP:0003110	Abnormality of urine homeostasis	HP:0040281	ORPHA:93600
112817	HOGA1	HP:0003159	Hyperoxaluria	-	OMIM:613616
112817	HOGA1	HP:0003159	Hyperoxaluria	HP:0040281	ORPHA:93600
112817	HOGA1	HP:0012211	Abnormal renal physiology	HP:0040281	ORPHA:93600
112817	HOGA1	HP:0012531	Pain	HP:0040281	ORPHA:93600
112858	TP53RK	HP:0001182	Tapered finger	-	OMIM:617730
112858	TP53RK	HP:0001181	Adducted thumb	HP:0040283	ORPHA:2065
112858	TP53RK	HP:0003774	Stage 5 chronic kidney disease	1/4	OMIM:617730
112858	TP53RK	HP:0002410	Aqueductal stenosis	HP:0040283	ORPHA:2065
112858	TP53RK	HP:0001276	Hypertonia	HP:0040283	ORPHA:2065
112858	TP53RK	HP:0001250	Seizure	2/4	OMIM:617730
112858	TP53RK	HP:0001250	Seizure	HP:0040282	ORPHA:2065
112858	TP53RK	HP:0001252	Hypotonia	3/4	OMIM:617730
112858	TP53RK	HP:0001252	Hypotonia	HP:0040283	ORPHA:2065
112858	TP53RK	HP:0001249	Intellectual disability	1/4	OMIM:617730
112858	TP53RK	HP:0001263	Global developmental delay	3/4	OMIM:617730
112858	TP53RK	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2065
112858	TP53RK	HP:0001257	Spasticity	1/4	OMIM:617730
112858	TP53RK	HP:0008677	Congenital nephrotic syndrome	2/4	OMIM:617730
112858	TP53RK	HP:0010978	Abnormality of immune system physiology	HP:0040283	ORPHA:2065
112858	TP53RK	HP:0000097	Focal segmental glomerulosclerosis	1/4	OMIM:617730
112858	TP53RK	HP:0000093	Proteinuria	4/4	OMIM:617730
112858	TP53RK	HP:0000093	Proteinuria	HP:0040281	ORPHA:2065
112858	TP53RK	HP:0001357	Plagiocephaly	1/4	OMIM:617730
112858	TP53RK	HP:0000007	Autosomal recessive inheritance	-	OMIM:617730
112858	TP53RK	HP:0001302	Pachygyria	HP:0040282	ORPHA:2065
112858	TP53RK	HP:0001321	Cerebellar hypoplasia	1/4	OMIM:617730
112858	TP53RK	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:2065
112858	TP53RK	HP:0000100	Nephrotic syndrome	4/4	OMIM:617730
112858	TP53RK	HP:0000100	Nephrotic syndrome	HP:0040281	ORPHA:2065
112858	TP53RK	HP:0000112	Nephropathy	HP:0040281	ORPHA:2065
112858	TP53RK	HP:0002036	Hiatus hernia	HP:0040282	ORPHA:2065
112858	TP53RK	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:2065
112858	TP53RK	HP:0002059	Cerebral atrophy	1/4	OMIM:617730
112858	TP53RK	HP:0002057	Prominent glabella	1/4	OMIM:617730
112858	TP53RK	HP:0002126	Polymicrogyria	2/4	OMIM:617730
112858	TP53RK	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2065
112858	TP53RK	HP:0003593	Infantile onset	2/4	OMIM:617730
112858	TP53RK	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:2065
112858	TP53RK	HP:0003577	Congenital onset	2/4	OMIM:617730
112858	TP53RK	HP:0100720	Hypoplasia of the ear cartilage	HP:0040281	ORPHA:2065
112858	TP53RK	HP:0100729	Large face	1/4	OMIM:617730
112858	TP53RK	HP:0011968	Feeding difficulties	1/4	OMIM:617730
112858	TP53RK	HP:0001034	Hypermelanotic macule	1/4	OMIM:617730
112858	TP53RK	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2065
112858	TP53RK	HP:0001967	Diffuse mesangial sclerosis	1/4	OMIM:617730
112858	TP53RK	HP:0000601	Hypotelorism	HP:0040283	ORPHA:2065
112858	TP53RK	HP:0004322	Short stature	1/4	OMIM:617730
112858	TP53RK	HP:0004322	Short stature	HP:0040282	ORPHA:2065
112858	TP53RK	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:2065
112858	TP53RK	HP:0000750	Delayed speech and language development	-	OMIM:617730
112858	TP53RK	HP:0011451	Primary microcephaly	4/4	OMIM:617730
112858	TP53RK	HP:0005108	Abnormal intervertebral disk morphology	HP:0040283	ORPHA:2065
112858	TP53RK	HP:0000252	Microcephaly	HP:0040281	ORPHA:2065
112858	TP53RK	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2065
112858	TP53RK	HP:0000347	Micrognathia	HP:0040283	ORPHA:2065
112858	TP53RK	HP:0000316	Hypertelorism	HP:0040283	ORPHA:2065
112858	TP53RK	HP:0000316	Hypertelorism	1/4	OMIM:617730
112858	TP53RK	HP:0001622	Premature birth	HP:0040282	ORPHA:2065
112858	TP53RK	HP:0000400	Macrotia	HP:0040282	ORPHA:2065
112858	TP53RK	HP:0000411	Protruding ear	1/4	OMIM:617730
112858	TP53RK	HP:0000505	Visual impairment	-	OMIM:617730
112939	NACC1	HP:0001118	Juvenile cataract	HP:0040283	ORPHA:500545
112939	NACC1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:500545
112939	NACC1	HP:0002421	Poor head control	2/7	OMIM:617393
112939	NACC1	HP:0001288	Gait disturbance	-	OMIM:617393
112939	NACC1	HP:0001250	Seizure	7/7	OMIM:617393
112939	NACC1	HP:0001250	Seizure	HP:0040281	ORPHA:500545
112939	NACC1	HP:0001252	Hypotonia	6/7	OMIM:617393
112939	NACC1	HP:0001249	Intellectual disability	7/7	OMIM:617393
112939	NACC1	HP:0001263	Global developmental delay	7/7	OMIM:617393
112939	NACC1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:500545
112939	NACC1	HP:0001257	Spasticity	HP:0040283	ORPHA:500545
112939	NACC1	HP:0001257	Spasticity	-	OMIM:617393
112939	NACC1	HP:0007359	Focal-onset seizure	1/7	OMIM:617393
112939	NACC1	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:500545
112939	NACC1	HP:0001371	Flexion contracture	HP:0040283	ORPHA:500545
112939	NACC1	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:500545
112939	NACC1	HP:0001344	Absent speech	-	OMIM:617393
112939	NACC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617393
112939	NACC1	HP:0002650	Scoliosis	HP:0040283	ORPHA:500545
112939	NACC1	HP:0002650	Scoliosis	1/7	OMIM:617393
112939	NACC1	HP:0012171	Stereotypical hand wringing	HP:0040281	ORPHA:500545
112939	NACC1	HP:0008947	Floppy infant	HP:0040281	ORPHA:500545
112939	NACC1	HP:0002020	Gastroesophageal reflux	1/7	OMIM:617393
112939	NACC1	HP:0005949	Apneic episodes in infancy	HP:0040283	ORPHA:500545
112939	NACC1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:500545
112939	NACC1	HP:0002059	Cerebral atrophy	-	OMIM:617393
112939	NACC1	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:500545
112939	NACC1	HP:0002188	Delayed CNS myelination	4/7	OMIM:617393
112939	NACC1	HP:0002187	Intellectual disability, profound	HP:0040282	ORPHA:500545
112939	NACC1	HP:0003593	Infantile onset	7/7	OMIM:617393
112939	NACC1	HP:0011968	Feeding difficulties	7/7	OMIM:617393
112939	NACC1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:500545
112939	NACC1	HP:0002360	Sleep abnormality	5/7	OMIM:617393
112939	NACC1	HP:0002376	Developmental regression	HP:0040283	ORPHA:500545
112939	NACC1	HP:0031951	Nocturnal seizures	1/7	OMIM:617393
112939	NACC1	HP:0000737	Irritability	HP:0040281	ORPHA:500545
112939	NACC1	HP:0000737	Irritability	7/7	OMIM:617393
112939	NACC1	HP:0000733	Motor stereotypy	6/7	OMIM:617393
112939	NACC1	HP:0034392	Joint contracture	1/7	OMIM:617393
112939	NACC1	HP:0000252	Microcephaly	HP:0040282	ORPHA:500545
112939	NACC1	HP:0002870	Obstructive sleep apnea	1/7	OMIM:617393
112939	NACC1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:500545
112939	NACC1	HP:0001508	Failure to thrive	3/7	OMIM:617393
112939	NACC1	HP:0032792	Tonic seizure	2/7	OMIM:617393
112939	NACC1	HP:0012469	Infantile spasms	4/7	OMIM:617393
112939	NACC1	HP:0012448	Delayed myelination	HP:0040283	ORPHA:500545
112939	NACC1	HP:0000455	Broad nasal tip	HP:0040283	ORPHA:500545
112939	NACC1	HP:0000455	Broad nasal tip	7/7	OMIM:617393
112939	NACC1	HP:0012430	Cerebral white matter hypoplasia	HP:0040283	ORPHA:500545
112939	NACC1	HP:0005484	Secondary microcephaly	5/7	OMIM:617393
112939	NACC1	HP:0000518	Cataract	5/7	OMIM:617393
113179	ADAT3	HP:0001274	Agenesis of corpus callosum	-	OMIM:615286
113179	ADAT3	HP:0001274	Agenesis of corpus callosum	HP:0040284	ORPHA:363528
113179	ADAT3	HP:0001288	Gait disturbance	HP:0040284	ORPHA:363528
113179	ADAT3	HP:0001250	Seizure	3/24	OMIM:615286
113179	ADAT3	HP:0001250	Seizure	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0001252	Hypotonia	10/24	OMIM:615286
113179	ADAT3	HP:0001249	Intellectual disability	24/24	OMIM:615286
113179	ADAT3	HP:0001249	Intellectual disability	HP:0040281	ORPHA:363528
113179	ADAT3	HP:0001263	Global developmental delay	HP:0040282	ORPHA:363528
113179	ADAT3	HP:0001257	Spasticity	7/24	OMIM:615286
113179	ADAT3	HP:0001257	Spasticity	HP:0040282	ORPHA:363528
113179	ADAT3	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0001376	Limitation of joint mobility	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000054	Micropenis	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000047	Hypospadias	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615286
113179	ADAT3	HP:0031123	Recurrent gastroenteritis	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000164	Abnormality of the dentition	HP:0040284	ORPHA:363528
113179	ADAT3	HP:0000154	Wide mouth	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0008947	Floppy infant	HP:0040282	ORPHA:363528
113179	ADAT3	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0002079	Hypoplasia of the corpus callosum	HP:0040284	ORPHA:363528
113179	ADAT3	HP:0009473	Joint contracture of the hand	HP:0040284	ORPHA:363528
113179	ADAT3	HP:0002119	Ventriculomegaly	2/15	OMIM:615286
113179	ADAT3	HP:0002188	Delayed CNS myelination	1/15	OMIM:615286
113179	ADAT3	HP:0002172	Postural instability	HP:0040284	ORPHA:363528
113179	ADAT3	HP:0003593	Infantile onset	-	OMIM:615286
113179	ADAT3	HP:0100702	Arachnoid cyst	HP:0040284	ORPHA:363528
113179	ADAT3	HP:0100702	Arachnoid cyst	3/15	OMIM:615286
113179	ADAT3	HP:0100710	Impulsivity	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0011968	Feeding difficulties	HP:0040284	ORPHA:363528
113179	ADAT3	HP:0009830	Peripheral neuropathy	HP:0040284	ORPHA:363528
113179	ADAT3	HP:0007162	Diffuse demyelination of the cerebral white matter	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000664	Synophrys	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0004322	Short stature	-	OMIM:615286
113179	ADAT3	HP:0004322	Short stature	HP:0040282	ORPHA:363528
113179	ADAT3	HP:0000752	Hyperactivity	HP:0040284	OMIM:615286
113179	ADAT3	HP:0000752	Hyperactivity	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:363528
113179	ADAT3	HP:0000718	Aggressive behavior	HP:0040284	OMIM:615286
113179	ADAT3	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000776	Congenital diaphragmatic hernia	HP:0040284	ORPHA:363528
113179	ADAT3	HP:0003196	Short nose	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:363528
113179	ADAT3	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:615286
113179	ADAT3	HP:0005879	Congenital finger flexion contractures	HP:0040284	ORPHA:363528
113179	ADAT3	HP:0000966	Hypohidrosis	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000286	Epicanthus	-	OMIM:615286
113179	ADAT3	HP:0000286	Epicanthus	HP:0040282	ORPHA:363528
113179	ADAT3	HP:0000276	Long face	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000252	Microcephaly	11/24	OMIM:615286
113179	ADAT3	HP:0000252	Microcephaly	HP:0040282	ORPHA:363528
113179	ADAT3	HP:0000218	High palate	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0001508	Failure to thrive	22/24	OMIM:615286
113179	ADAT3	HP:0001508	Failure to thrive	HP:0040281	ORPHA:363528
113179	ADAT3	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000365	Hearing impairment	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000369	Low-set ears	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000340	Sloping forehead	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000348	High forehead	-	OMIM:615286
113179	ADAT3	HP:0000348	High forehead	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000347	Micrognathia	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000316	Hypertelorism	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000403	Recurrent otitis media	-	OMIM:615286
113179	ADAT3	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000400	Macrotia	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0005280	Depressed nasal bridge	-	OMIM:615286
113179	ADAT3	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:363528
113179	ADAT3	HP:0000486	Strabismus	-	OMIM:615286
113179	ADAT3	HP:0000486	Strabismus	HP:0040281	ORPHA:363528
113179	ADAT3	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0012448	Delayed myelination	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0012444	Brain atrophy	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0012444	Brain atrophy	2/15	OMIM:615286
113179	ADAT3	HP:0012450	Chronic constipation	HP:0040284	ORPHA:363528
113179	ADAT3	HP:0000470	Short neck	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:363528
113179	ADAT3	HP:0001771	Achilles tendon contracture	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000448	Prominent nose	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0012408	Medullary nephrocalcinosis	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000418	Narrow nasal ridge	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000506	Telecanthus	-	OMIM:615286
113179	ADAT3	HP:0000506	Telecanthus	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0000582	Upslanted palpebral fissure	-	OMIM:615286
113179	ADAT3	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:363528
113179	ADAT3	HP:0030353	Decreased serum insulin-like growth factor 1	HP:0040283	ORPHA:363528
113179	ADAT3	HP:0011220	Prominent forehead	-	OMIM:615286
113179	ADAT3	HP:0011220	Prominent forehead	HP:0040282	ORPHA:363528
113179	ADAT3	HP:0000565	Esotropia	22/24	OMIM:615286
113189	CHST14	HP:0001182	Tapered finger	HP:0040282	ORPHA:2953
113189	CHST14	HP:0001181	Adducted thumb	-	OMIM:601776
113189	CHST14	HP:0001166	Arachnodactyly	-	OMIM:601776
113189	CHST14	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
113189	CHST14	HP:0001293	Cranial nerve compression	-	OMIM:131300
113189	CHST14	HP:0001290	Generalized hypotonia	-	OMIM:601776
113189	CHST14	HP:0001270	Motor delay	-	OMIM:601776
113189	CHST14	HP:0001252	Hypotonia	-	OMIM:601776
113189	CHST14	HP:0001252	Hypotonia	2/7	OMIM:615777
113189	CHST14	HP:0001249	Intellectual disability	HP:0040283	OMIM:601776
113189	CHST14	HP:0001249	Intellectual disability	5/7	OMIM:615777
113189	CHST14	HP:0001263	Global developmental delay	-	OMIM:601776
113189	CHST14	HP:0001263	Global developmental delay	-	OMIM:615777
113189	CHST14	HP:0001238	Slender finger	HP:0040281	ORPHA:2953
113189	CHST14	HP:0002566	Intestinal malrotation	-	OMIM:601776
113189	CHST14	HP:0002515	Waddling gait	54/102	OMIM:131300
113189	CHST14	HP:0000085	Horseshoe kidney	HP:0040284	ORPHA:2953
113189	CHST14	HP:0001373	Joint dislocation	4/6	OMIM:601776
113189	CHST14	HP:0001382	Joint hypermobility	-	OMIM:601776
113189	CHST14	HP:0001382	Joint hypermobility	-	OMIM:615777
113189	CHST14	HP:0000023	Inguinal hernia	HP:0040284	ORPHA:2953
113189	CHST14	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:2953
113189	CHST14	HP:0002694	Sclerosis of skull base	-	OMIM:131300
113189	CHST14	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2953
113189	CHST14	HP:0000028	Cryptorchidism	HP:0040281	OMIM:601776
113189	CHST14	HP:0008897	Postnatal growth retardation	-	OMIM:615777
113189	CHST14	HP:0006184	Decreased palmar creases	HP:0040281	ORPHA:2953
113189	CHST14	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
113189	CHST14	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2953
113189	CHST14	HP:0001324	Muscle weakness	40/96	OMIM:131300
113189	CHST14	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
113189	CHST14	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
113189	CHST14	HP:0000007	Autosomal recessive inheritance	-	OMIM:601776
113189	CHST14	HP:0000009	Functional abnormality of the bladder	HP:0040283	ORPHA:2953
113189	CHST14	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
113189	CHST14	HP:0002650	Scoliosis	HP:0040281	ORPHA:2953
113189	CHST14	HP:0002650	Scoliosis	6/6	OMIM:601776
113189	CHST14	HP:0002650	Scoliosis	12/14	OMIM:131300
113189	CHST14	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
113189	CHST14	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
113189	CHST14	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
113189	CHST14	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
113189	CHST14	HP:0000160	Narrow mouth	HP:0040281	ORPHA:2953
113189	CHST14	HP:0000160	Narrow mouth	4/4	OMIM:601776
113189	CHST14	HP:0000175	Cleft palate	HP:0040283	ORPHA:2953
113189	CHST14	HP:0000175	Cleft palate	-	OMIM:601776
113189	CHST14	HP:0000175	Cleft palate	2/7	OMIM:615777
113189	CHST14	HP:0000153	Abnormality of the mouth	-	OMIM:601776
113189	CHST14	HP:0410030	Cleft lip	HP:0040283	ORPHA:2953
113189	CHST14	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2953
113189	CHST14	HP:0000126	Hydronephrosis	-	OMIM:601776
113189	CHST14	HP:0002761	Generalized joint hypermobility	HP:0040281	ORPHA:2953
113189	CHST14	HP:0002761	Generalized joint hypermobility	-	OMIM:601776
113189	CHST14	HP:0000100	Nephrotic syndrome	-	OMIM:601776
113189	CHST14	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:2953
113189	CHST14	HP:0002019	Constipation	HP:0040282	ORPHA:2953
113189	CHST14	HP:0002019	Constipation	5/6	OMIM:601776
113189	CHST14	HP:0002036	Hiatus hernia	-	OMIM:601776
113189	CHST14	HP:0002000	Short columella	5/5	OMIM:601776
113189	CHST14	HP:0003319	Abnormality of the cervical spine	HP:0040281	ORPHA:2953
113189	CHST14	HP:0003388	Easy fatigability	36/76	OMIM:131300
113189	CHST14	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
113189	CHST14	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:2953
113189	CHST14	HP:0002119	Ventriculomegaly	-	OMIM:601776
113189	CHST14	HP:0004794	Malrotation of small bowel	HP:0040284	ORPHA:2953
113189	CHST14	HP:0002107	Pneumothorax	HP:0040283	ORPHA:2953
113189	CHST14	HP:0002107	Pneumothorax	3/6	OMIM:601776
113189	CHST14	HP:0003414	Atlantoaxial dislocation	HP:0040283	ORPHA:2953
113189	CHST14	HP:0002194	Delayed gross motor development	HP:0040281	ORPHA:2953
113189	CHST14	HP:0002194	Delayed gross motor development	5/5	OMIM:601776
113189	CHST14	HP:0002246	Abnormal duodenum morphology	-	OMIM:601776
113189	CHST14	HP:0003577	Congenital onset	3/6	OMIM:601776
113189	CHST14	HP:0430043	Thoracic lordosis	HP:0040282	ORPHA:2953
113189	CHST14	HP:0430043	Thoracic lordosis	3/3	OMIM:601776
113189	CHST14	HP:0003510	Severe short stature	7/7	OMIM:615777
113189	CHST14	HP:0001030	Fragile skin	-	OMIM:601776
113189	CHST14	HP:0002315	Headache	-	OMIM:131300
113189	CHST14	HP:0004976	Knee dislocation	6/7	OMIM:615777
113189	CHST14	HP:0001075	Atrophic scars	5/6	OMIM:601776
113189	CHST14	HP:0001075	Atrophic scars	HP:0040281	ORPHA:2953
113189	CHST14	HP:0009803	Short phalanx of finger	-	OMIM:615777
113189	CHST14	HP:0100699	Scarring	-	OMIM:601776
113189	CHST14	HP:0009763	Limb pain	63/92	OMIM:131300
113189	CHST14	HP:0003623	Neonatal onset	3/6	OMIM:601776
113189	CHST14	HP:0003621	Juvenile onset	-	OMIM:131300
113189	CHST14	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
113189	CHST14	HP:0031869	Recurrent joint dislocation	HP:0040281	ORPHA:2953
113189	CHST14	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
113189	CHST14	HP:6001056	Out-toeing	-	OMIM:131300
113189	CHST14	HP:0000651	Diplopia	-	OMIM:131300
113189	CHST14	HP:0001956	Truncal obesity	2/7	OMIM:615777
113189	CHST14	HP:0001933	Subcutaneous hemorrhage	HP:0040281	ORPHA:2953
113189	CHST14	HP:0001903	Anemia	HP:0040283	OMIM:131300
113189	CHST14	HP:0010049	Short metacarpal	-	OMIM:615777
113189	CHST14	HP:0000678	Dental crowding	-	OMIM:615777
113189	CHST14	HP:0000670	Carious teeth	-	OMIM:131300
113189	CHST14	HP:0011304	Broad thumb	2/7	OMIM:615777
113189	CHST14	HP:0000668	Hypodontia	-	OMIM:615777
113189	CHST14	HP:0001999	Abnormal facial shape	-	OMIM:601776
113189	CHST14	HP:0000664	Synophrys	-	OMIM:615777
113189	CHST14	HP:0004396	Poor appetite	-	OMIM:131300
113189	CHST14	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
113189	CHST14	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
113189	CHST14	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
113189	CHST14	HP:0003026	Short long bone	7/7	OMIM:615777
113189	CHST14	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
113189	CHST14	HP:0005684	Distal arthrogryposis	20/20	OMIM:601776
113189	CHST14	HP:0100016	Abnormal mesentery morphology	HP:0040283	ORPHA:2953
113189	CHST14	HP:0000767	Pectus excavatum	4/6	OMIM:601776
113189	CHST14	HP:0000767	Pectus excavatum	2/7	OMIM:615777
113189	CHST14	HP:0000766	Abnormal sternum morphology	HP:0040281	ORPHA:2953
113189	CHST14	HP:0000768	Pectus carinatum	1/7	OMIM:615777
113189	CHST14	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
113189	CHST14	HP:0000750	Delayed speech and language development	-	OMIM:615777
113189	CHST14	HP:0011461	Fetal onset	7/7	OMIM:615777
113189	CHST14	HP:0000774	Narrow chest	2/7	OMIM:615777
113189	CHST14	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:2953
113189	CHST14	HP:0004425	Flat forehead	-	OMIM:601776
113189	CHST14	HP:0003198	Myopathy	HP:0040282	ORPHA:2953
113189	CHST14	HP:0003199	Decreased muscle mass	HP:0040281	ORPHA:2953
113189	CHST14	HP:0003196	Short nose	HP:0040281	ORPHA:2953
113189	CHST14	HP:0003196	Short nose	5/5	OMIM:601776
113189	CHST14	HP:0000926	Platyspondyly	1/7	OMIM:615777
113189	CHST14	HP:0003180	Flat acetabular roof	-	OMIM:615777
113189	CHST14	HP:0004482	Relative macrocephaly	-	OMIM:615777
113189	CHST14	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
113189	CHST14	HP:0000823	Delayed puberty	-	OMIM:131300
113189	CHST14	HP:0000894	Short clavicles	-	OMIM:615777
113189	CHST14	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
113189	CHST14	HP:0000978	Bruising susceptibility	HP:0040281	ORPHA:2953
113189	CHST14	HP:0000978	Bruising susceptibility	6/6	OMIM:601776
113189	CHST14	HP:0000974	Hyperextensible skin	HP:0040281	ORPHA:2953
113189	CHST14	HP:0000974	Hyperextensible skin	6/6	OMIM:601776
113189	CHST14	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
113189	CHST14	HP:0000286	Epicanthus	1/7	OMIM:615777
113189	CHST14	HP:0000280	Coarse facial features	2/7	OMIM:615777
113189	CHST14	HP:0000270	Delayed cranial suture closure	-	OMIM:601776
113189	CHST14	HP:0002827	Hip dislocation	3/7	OMIM:615777
113189	CHST14	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:2953
113189	CHST14	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:601776
113189	CHST14	HP:0000239	Large fontanelles	5/5	OMIM:601776
113189	CHST14	HP:0000239	Large fontanelles	HP:0040281	ORPHA:2953
113189	CHST14	HP:0000252	Microcephaly	-	OMIM:615777
113189	CHST14	HP:0001582	Redundant skin	HP:0040282	ORPHA:2953
113189	CHST14	HP:0001581	Recurrent skin infections	5/6	OMIM:601776
113189	CHST14	HP:0001581	Recurrent skin infections	HP:0040282	ORPHA:2953
113189	CHST14	HP:0000248	Brachycephaly	-	OMIM:601776
113189	CHST14	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2953
113189	CHST14	HP:0000219	Thin upper lip vermilion	5/5	OMIM:601776
113189	CHST14	HP:0000218	High palate	HP:0040281	ORPHA:2953
113189	CHST14	HP:0000218	High palate	6/6	OMIM:601776
113189	CHST14	HP:0002857	Genu valgum	-	OMIM:131300
113189	CHST14	HP:0001540	Diastasis recti	-	OMIM:601776
113189	CHST14	HP:0001537	Umbilical hernia	-	OMIM:601776
113189	CHST14	HP:0001533	Slender build	-	OMIM:131300
113189	CHST14	HP:0031364	Ecchymosis	-	OMIM:601776
113189	CHST14	HP:0001519	Disproportionate tall stature	HP:0040281	ORPHA:2953
113189	CHST14	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
113189	CHST14	HP:0007807	Optic nerve compression	-	OMIM:131300
113189	CHST14	HP:0012368	Flat face	7/7	OMIM:615777
113189	CHST14	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:2953
113189	CHST14	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
113189	CHST14	HP:0002947	Cervical kyphosis	HP:0040282	ORPHA:2953
113189	CHST14	HP:0005180	Tricuspid regurgitation	1/5	OMIM:601776
113189	CHST14	HP:0000365	Hearing impairment	HP:0040283	ORPHA:2953
113189	CHST14	HP:0000365	Hearing impairment	4/6	OMIM:601776
113189	CHST14	HP:0000365	Hearing impairment	10/67	OMIM:131300
113189	CHST14	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:2953
113189	CHST14	HP:0000358	Posteriorly rotated ears	-	OMIM:601776
113189	CHST14	HP:0000369	Low-set ears	5/5	OMIM:601776
113189	CHST14	HP:0000343	Long philtrum	HP:0040281	ORPHA:2953
113189	CHST14	HP:0000343	Long philtrum	5/5	OMIM:601776
113189	CHST14	HP:0000343	Long philtrum	1/7	OMIM:615777
113189	CHST14	HP:0011001	Increased bone mineral density	-	OMIM:131300
113189	CHST14	HP:0000337	Broad forehead	-	OMIM:601776
113189	CHST14	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2953
113189	CHST14	HP:0000316	Hypertelorism	6/6	OMIM:601776
113189	CHST14	HP:0000311	Round face	2/7	OMIM:615777
113189	CHST14	HP:0001659	Aortic regurgitation	2/5	OMIM:601776
113189	CHST14	HP:0001654	Abnormal heart valve morphology	HP:0040283	ORPHA:2953
113189	CHST14	HP:0001653	Mitral regurgitation	2/5	OMIM:601776
113189	CHST14	HP:0000324	Facial asymmetry	5/5	OMIM:601776
113189	CHST14	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2953
113189	CHST14	HP:0002970	Genu varum	-	OMIM:615777
113189	CHST14	HP:0000308	Microretrognathia	HP:0040282	ORPHA:2953
113189	CHST14	HP:0000308	Microretrognathia	4/4	OMIM:601776
113189	CHST14	HP:0001631	Atrial septal defect	1/5	OMIM:601776
113189	CHST14	HP:0000303	Mandibular prognathia	-	OMIM:131300
113189	CHST14	HP:0001634	Mitral valve prolapse	1/5	OMIM:601776
113189	CHST14	HP:0007906	Ocular hypertension	HP:0040282	ORPHA:2953
113189	CHST14	HP:0000400	Macrotia	HP:0040281	ORPHA:2953
113189	CHST14	HP:0001704	Tricuspid valve prolapse	1/5	OMIM:601776
113189	CHST14	HP:0005272	Prominent nasolabial fold	HP:0040281	ORPHA:2953
113189	CHST14	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
113189	CHST14	HP:0000483	Astigmatism	HP:0040282	ORPHA:2953
113189	CHST14	HP:0000483	Astigmatism	4/6	OMIM:601776
113189	CHST14	HP:0000486	Strabismus	HP:0040282	ORPHA:2953
113189	CHST14	HP:0000486	Strabismus	5/6	OMIM:601776
113189	CHST14	HP:0000482	Microcornea	-	OMIM:601776
113189	CHST14	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:2953
113189	CHST14	HP:0000494	Downslanted palpebral fissures	-	OMIM:601776
113189	CHST14	HP:0000470	Short neck	1/7	OMIM:615777
113189	CHST14	HP:0001769	Broad foot	HP:0040283	OMIM:615777
113189	CHST14	HP:0001763	Pes planus	1/7	OMIM:615777
113189	CHST14	HP:0000411	Protruding ear	HP:0040281	ORPHA:2953
113189	CHST14	HP:0000411	Protruding ear	-	OMIM:601776
113189	CHST14	HP:0001762	Talipes equinovarus	-	OMIM:601776
113189	CHST14	HP:0001840	Metatarsus adductus	-	OMIM:615777
113189	CHST14	HP:0000520	Proptosis	2/4	OMIM:131300
113189	CHST14	HP:0000520	Proptosis	7/7	OMIM:615777
113189	CHST14	HP:0000506	Telecanthus	-	OMIM:601776
113189	CHST14	HP:0000501	Glaucoma	HP:0040283	ORPHA:2953
113189	CHST14	HP:0000501	Glaucoma	3/6	OMIM:601776
113189	CHST14	HP:0000593	Abnormal anterior chamber morphology	-	OMIM:601776
113189	CHST14	HP:0000592	Blue sclerae	HP:0040281	ORPHA:2953
113189	CHST14	HP:0000592	Blue sclerae	2/7	OMIM:615777
113189	CHST14	HP:0000592	Blue sclerae	6/6	OMIM:601776
113189	CHST14	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:2953
113189	CHST14	HP:0012534	Dysesthesia	HP:0040281	ORPHA:2953
113189	CHST14	HP:0012534	Dysesthesia	-	OMIM:601776
113189	CHST14	HP:0000541	Retinal detachment	HP:0040282	ORPHA:2953
113189	CHST14	HP:0000541	Retinal detachment	-	OMIM:601776
113189	CHST14	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
113189	CHST14	HP:0012514	Lower limb pain	4/4	OMIM:131300
113189	CHST14	HP:0000545	Myopia	HP:0040282	ORPHA:2953
113189	CHST14	HP:0000545	Myopia	4/6	OMIM:601776
113220	KIF12	HP:0001396	Cholestasis	7/7	OMIM:619662
113220	KIF12	HP:0001395	Hepatic fibrosis	4/5	OMIM:619662
113220	KIF12	HP:0001394	Cirrhosis	3/7	OMIM:619662
113220	KIF12	HP:0000007	Autosomal recessive inheritance	-	OMIM:619662
113220	KIF12	HP:0006254	Elevated circulating alpha-fetoprotein concentration	2/3	OMIM:619662
113220	KIF12	HP:0001409	Portal hypertension	1/4	OMIM:619662
113220	KIF12	HP:0001408	Bile duct proliferation	4/5	OMIM:619662
113220	KIF12	HP:0030991	Sclerosing cholangitis	1/4	OMIM:619662
113220	KIF12	HP:0030948	Elevated gamma-glutamyltransferase level	13/13	OMIM:619662
113220	KIF12	HP:0002040	Esophageal varix	1/4	OMIM:619662
113220	KIF12	HP:0003593	Infantile onset	5/9	OMIM:619662
113220	KIF12	HP:0002240	Hepatomegaly	2/3	OMIM:619662
113220	KIF12	HP:0003623	Neonatal onset	1/6	OMIM:619662
113220	KIF12	HP:0003621	Juvenile onset	2/9	OMIM:619662
113220	KIF12	HP:0031956	Elevated circulating aspartate aminotransferase concentration	3/3	OMIM:619662
113220	KIF12	HP:0031964	Elevated circulating alanine aminotransferase concentration	3/3	OMIM:619662
113220	KIF12	HP:0011463	Childhood onset	1/6	OMIM:619662
113220	KIF12	HP:0003124	Hypercholesterolemia	1/3	OMIM:619662
113220	KIF12	HP:0003155	Elevated circulating alkaline phosphatase concentration	3/3	OMIM:619662
113220	KIF12	HP:0012852	Hepatic bridging fibrosis	1/2	OMIM:619662
113220	KIF12	HP:0000989	Pruritus	4/6	OMIM:619662
113220	KIF12	HP:0000952	Jaundice	3/3	OMIM:619662
113220	KIF12	HP:0012202	Increased serum bile acid concentration	3/3	OMIM:619662
113220	KIF12	HP:0002908	Conjugated hyperbilirubinemia	2/3	OMIM:619662
113235	SLC46A1	HP:0001290	Generalized hypotonia	-	OMIM:229050
113235	SLC46A1	HP:0100825	Cheilitis	HP:0040281	ORPHA:90045
113235	SLC46A1	HP:0001250	Seizure	-	OMIM:229050
113235	SLC46A1	HP:0001250	Seizure	HP:0040282	ORPHA:90045
113235	SLC46A1	HP:0001252	Hypotonia	-	OMIM:229050
113235	SLC46A1	HP:0001251	Ataxia	-	OMIM:229050
113235	SLC46A1	HP:0001249	Intellectual disability	-	OMIM:229050
113235	SLC46A1	HP:0001263	Global developmental delay	-	OMIM:229050
113235	SLC46A1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:90045
113235	SLC46A1	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:90045
113235	SLC46A1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:90045
113235	SLC46A1	HP:0008872	Feeding difficulties in infancy	-	OMIM:229050
113235	SLC46A1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:90045
113235	SLC46A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:229050
113235	SLC46A1	HP:0000155	Oral ulcer	-	OMIM:229050
113235	SLC46A1	HP:0002719	Recurrent infections	2/2	OMIM:229050
113235	SLC46A1	HP:0002715	Abnormality of the immune system	HP:0040281	ORPHA:90045
113235	SLC46A1	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:90045
113235	SLC46A1	HP:0002024	Malabsorption	-	OMIM:229050
113235	SLC46A1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:90045
113235	SLC46A1	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:90045
113235	SLC46A1	HP:0002014	Diarrhea	2/2	OMIM:229050
113235	SLC46A1	HP:0002014	Diarrhea	HP:0040281	ORPHA:90045
113235	SLC46A1	HP:0100507	Reduced blood folate concentration	2/2	OMIM:229050
113235	SLC46A1	HP:0002039	Anorexia	HP:0040281	ORPHA:90045
113235	SLC46A1	HP:0002135	Basal ganglia calcification	-	OMIM:229050
113235	SLC46A1	HP:6000258	Impaired folate absorption	-	OMIM:229050
113235	SLC46A1	HP:0003593	Infantile onset	2/2	OMIM:229050
113235	SLC46A1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:90045
113235	SLC46A1	HP:0004851	Folate-responsive megaloblastic anemia	2/2	OMIM:229050
113235	SLC46A1	HP:0100660	Dyskinesia	-	OMIM:229050
113235	SLC46A1	HP:0009830	Peripheral neuropathy	-	OMIM:229050
113235	SLC46A1	HP:0009830	Peripheral neuropathy	HP:0040282	ORPHA:90045
113235	SLC46A1	HP:0002305	Athetosis	-	OMIM:229050
113235	SLC46A1	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:90045
113235	SLC46A1	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:90045
113235	SLC46A1	HP:0000737	Irritability	-	OMIM:229050
113235	SLC46A1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:90045
113235	SLC46A1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:90045
113235	SLC46A1	HP:0000980	Pallor	HP:0040281	ORPHA:90045
113235	SLC46A1	HP:0000206	Glossitis	HP:0040281	ORPHA:90045
113235	SLC46A1	HP:0001508	Failure to thrive	-	OMIM:229050
113235	SLC46A1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:90045
113235	SLC46A1	HP:0001889	Megaloblastic anemia	HP:0040281	ORPHA:90045
113235	SLC46A1	HP:0001880	Increased total eosinophil count	HP:0040283	ORPHA:90045
113235	SLC46A1	HP:0001882	Decreased total leukocyte count	-	OMIM:229050
113235	SLC46A1	HP:0001873	Thrombocytopenia	-	OMIM:229050
113235	SLC46A1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:90045
113235	SLC46A1	HP:0001876	Pancytopenia	HP:0040283	ORPHA:90045
113235	SLC46A1	HP:0001875	Decreased total neutrophil count	-	OMIM:229050
113246	C12orf57	HP:0001156	Brachydactyly	-	OMIM:218340
113246	C12orf57	HP:0001276	Hypertonia	2/5	OMIM:218340
113246	C12orf57	HP:0001274	Agenesis of corpus callosum	2/5	OMIM:218340
113246	C12orf57	HP:0001256	Intellectual disability, mild	-	OMIM:218340
113246	C12orf57	HP:0001250	Seizure	5/5	OMIM:218340
113246	C12orf57	HP:0001252	Hypotonia	-	OMIM:218340
113246	C12orf57	HP:0001263	Global developmental delay	5/5	OMIM:218340
113246	C12orf57	HP:0002553	Highly arched eyebrow	-	OMIM:218340
113246	C12orf57	HP:0012019	Lens luxation	-	OMIM:218340
113246	C12orf57	HP:0000007	Autosomal recessive inheritance	-	OMIM:218340
113246	C12orf57	HP:0002007	Frontal bossing	-	OMIM:218340
113246	C12orf57	HP:0002119	Ventriculomegaly	-	OMIM:218340
113246	C12orf57	HP:0003593	Infantile onset	14/15	OMIM:218340
113246	C12orf57	HP:0007074	Thick corpus callosum	1/5	OMIM:218340
113246	C12orf57	HP:0001083	Ectopia lentis	-	OMIM:218340
113246	C12orf57	HP:0003623	Neonatal onset	1/5	OMIM:218340
113246	C12orf57	HP:0004942	Aortic aneurysm	-	OMIM:218340
113246	C12orf57	HP:0000612	Iris coloboma	1/5	OMIM:218340
113246	C12orf57	HP:0000678	Dental crowding	-	OMIM:218340
113246	C12orf57	HP:0000685	Hypoplasia of teeth	-	OMIM:218340
113246	C12orf57	HP:0000742	Self-mutilation	1/5	OMIM:218340
113246	C12orf57	HP:0000276	Long face	-	OMIM:218340
113246	C12orf57	HP:0002827	Hip dislocation	-	OMIM:218340
113246	C12orf57	HP:0000394	Lop ear	-	OMIM:218340
113246	C12orf57	HP:0000369	Low-set ears	-	OMIM:218340
113246	C12orf57	HP:0000343	Long philtrum	-	OMIM:218340
113246	C12orf57	HP:0000347	Micrognathia	-	OMIM:218340
113246	C12orf57	HP:0000316	Hypertelorism	-	OMIM:218340
113246	C12orf57	HP:0001659	Aortic regurgitation	-	OMIM:218340
113246	C12orf57	HP:0000494	Downslanted palpebral fissures	-	OMIM:218340
113246	C12orf57	HP:0001763	Pes planus	-	OMIM:218340
113246	C12orf57	HP:0000444	Convex nasal ridge	-	OMIM:218340
113246	C12orf57	HP:0001762	Talipes equinovarus	-	OMIM:218340
113246	C12orf57	HP:0001885	Short 2nd toe	-	OMIM:218340
113246	C12orf57	HP:0000568	Microphthalmia	3/5	OMIM:218340
113246	C12orf57	HP:0000567	Chorioretinal coloboma	3/5	OMIM:218340
113246	C12orf57	HP:0000545	Myopia	-	OMIM:218340
113278	SLC52A3	HP:0003701	Proximal muscle weakness	1/9	OMIM:211530
113278	SLC52A3	HP:0001298	Encephalopathy	1/9	OMIM:211530
113278	SLC52A3	HP:0001283	Bulbar palsy	-	OMIM:211500
113278	SLC52A3	HP:0001283	Bulbar palsy	3/9	OMIM:211530
113278	SLC52A3	HP:0001252	Hypotonia	2/9	OMIM:211530
113278	SLC52A3	HP:0001251	Ataxia	HP:0040283	OMIM:211530
113278	SLC52A3	HP:0003819	Death in childhood	1/9	OMIM:211530
113278	SLC52A3	HP:0001349	Facial diplegia	-	OMIM:211500
113278	SLC52A3	HP:0001348	Brisk reflexes	1/9	OMIM:211530
113278	SLC52A3	HP:0001347	Hyperreflexia	-	OMIM:211530
113278	SLC52A3	HP:0001324	Muscle weakness	3/9	OMIM:211530
113278	SLC52A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:211530
113278	SLC52A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:211500
113278	SLC52A3	HP:0001308	Tongue fasciculations	2/9	OMIM:211530
113278	SLC52A3	HP:0002650	Scoliosis	-	OMIM:211530
113278	SLC52A3	HP:0001317	Abnormal cerebellum morphology	-	OMIM:211530
113278	SLC52A3	HP:0002015	Dysphagia	-	OMIM:211530
113278	SLC52A3	HP:0002015	Dysphagia	-	OMIM:211500
113278	SLC52A3	HP:0003324	Generalized muscle weakness	1/9	OMIM:211530
113278	SLC52A3	HP:0005951	Progressive inspiratory stridor	-	OMIM:211500
113278	SLC52A3	HP:0002098	Respiratory distress	-	OMIM:211530
113278	SLC52A3	HP:0002094	Dyspnea	-	OMIM:211530
113278	SLC52A3	HP:0002093	Respiratory insufficiency	-	OMIM:211530
113278	SLC52A3	HP:0002078	Truncal ataxia	1/9	OMIM:211530
113278	SLC52A3	HP:0002058	Myopathic facies	-	OMIM:211530
113278	SLC52A3	HP:0002141	Gait imbalance	1/9	OMIM:211530
113278	SLC52A3	HP:0003593	Infantile onset	3/9	OMIM:211530
113278	SLC52A3	HP:0004887	Respiratory failure requiring assisted ventilation	1/9	OMIM:211530
113278	SLC52A3	HP:0002205	Recurrent respiratory infections	-	OMIM:211530
113278	SLC52A3	HP:0007034	Generalized hyperreflexia	-	OMIM:211500
113278	SLC52A3	HP:0010628	Facial palsy	2/9	OMIM:211530
113278	SLC52A3	HP:0007097	Cranial nerve motor loss	-	OMIM:211530
113278	SLC52A3	HP:0003676	Progressive	-	OMIM:211530
113278	SLC52A3	HP:0009830	Peripheral neuropathy	1/9	OMIM:211530
113278	SLC52A3	HP:0002312	Clumsiness	-	OMIM:211530
113278	SLC52A3	HP:0003621	Juvenile onset	4/9	OMIM:211530
113278	SLC52A3	HP:0006824	Cranial nerve paralysis	-	OMIM:211530
113278	SLC52A3	HP:0011463	Childhood onset	2/9	OMIM:211530
113278	SLC52A3	HP:0011449	Knee clonus	-	OMIM:211530
113278	SLC52A3	HP:0011448	Ankle clonus	1/9	OMIM:211530
113278	SLC52A3	HP:0009130	Hand muscle atrophy	-	OMIM:211530
113278	SLC52A3	HP:0009113	Diaphragmatic weakness	-	OMIM:211500
113278	SLC52A3	HP:0009113	Diaphragmatic weakness	-	OMIM:211530
113278	SLC52A3	HP:0003202	Skeletal muscle atrophy	2/9	OMIM:211530
113278	SLC52A3	HP:0010307	Stridor	3/9	OMIM:211530
113278	SLC52A3	HP:0002808	Kyphosis	-	OMIM:211530
113278	SLC52A3	HP:0002877	Nocturnal hypoventilation	-	OMIM:211530
113278	SLC52A3	HP:0001605	Vocal cord paralysis	-	OMIM:211530
113278	SLC52A3	HP:0000365	Hearing impairment	2/9	OMIM:211530
113278	SLC52A3	HP:0001621	Weak voice	-	OMIM:211530
113278	SLC52A3	HP:0000407	Sensorineural hearing impairment	-	OMIM:211530
113278	SLC52A3	HP:0012473	Tongue atrophy	1/9	OMIM:211530
113278	SLC52A3	HP:0000467	Neck muscle weakness	-	OMIM:211530
113278	SLC52A3	HP:0000508	Ptosis	-	OMIM:211530
113278	SLC52A3	HP:0000508	Ptosis	-	OMIM:211500
113278	SLC52A3	HP:0000544	External ophthalmoplegia	1/9	OMIM:211530
113457	TUBA3D	HP:0000006	Autosomal dominant inheritance	-	OMIM:617928
113457	TUBA3D	HP:0007663	Reduced visual acuity	2/2	OMIM:617928
113457	TUBA3D	HP:0100689	Decreased corneal thickness	2/2	OMIM:617928
113457	TUBA3D	HP:0003621	Juvenile onset	2/2	OMIM:617928
113457	TUBA3D	HP:0000563	Keratoconus	4/4	OMIM:617928
113612	CYP2U1	HP:0002453	Abnormal globus pallidus morphology	HP:0040283	ORPHA:320411
113612	CYP2U1	HP:0001270	Motor delay	-	OMIM:615030
113612	CYP2U1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:320411
113612	CYP2U1	HP:0001249	Intellectual disability	1/7	OMIM:615030
113612	CYP2U1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:320411
113612	CYP2U1	HP:0001258	Spastic paraplegia	-	OMIM:615030
113612	CYP2U1	HP:0001258	Spastic paraplegia	HP:0040283	ORPHA:320411
113612	CYP2U1	HP:0007350	Upper limb hyperreflexia	4/7	OMIM:615030
113612	CYP2U1	HP:0002500	Abnormal cerebral white matter morphology	3/7	OMIM:615030
113612	CYP2U1	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:320411
113612	CYP2U1	HP:0001332	Dystonia	1/7	OMIM:615030
113612	CYP2U1	HP:0001332	Dystonia	HP:0040283	ORPHA:320411
113612	CYP2U1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615030
113612	CYP2U1	HP:0100543	Cognitive impairment	1/7	OMIM:615030
113612	CYP2U1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:320411
113612	CYP2U1	HP:0002064	Spastic gait	HP:0040282	ORPHA:320411
113612	CYP2U1	HP:0002079	Hypoplasia of the corpus callosum	3/7	OMIM:615030
113612	CYP2U1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:320411
113612	CYP2U1	HP:0003477	Peripheral axonal neuropathy	5/7	OMIM:615030
113612	CYP2U1	HP:0003477	Peripheral axonal neuropathy	HP:0040283	ORPHA:320411
113612	CYP2U1	HP:0003487	Babinski sign	7/7	OMIM:615030
113612	CYP2U1	HP:0003487	Babinski sign	HP:0040281	ORPHA:320411
113612	CYP2U1	HP:0002135	Basal ganglia calcification	3/7	OMIM:615030
113612	CYP2U1	HP:0003593	Infantile onset	1/7	OMIM:615030
113612	CYP2U1	HP:0003577	Congenital onset	1/7	OMIM:615030
113612	CYP2U1	HP:0002395	Lower limb hyperreflexia	7/7	OMIM:615030
113612	CYP2U1	HP:0002395	Lower limb hyperreflexia	HP:0040281	ORPHA:320411
113612	CYP2U1	HP:0002317	Unsteady gait	2/7	OMIM:615030
113612	CYP2U1	HP:0002317	Unsteady gait	HP:0040282	ORPHA:320411
113612	CYP2U1	HP:0003621	Juvenile onset	1/7	OMIM:615030
113612	CYP2U1	HP:0031936	Delayed ability to walk	4/7	OMIM:615030
113612	CYP2U1	HP:0011463	Childhood onset	4/7	OMIM:615030
113612	CYP2U1	HP:0030051	Tip-toe gait	2/7	OMIM:615030
113612	CYP2U1	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:320411
114034	TOE1	HP:0001276	Hypertonia	8/10	OMIM:614969
114034	TOE1	HP:0001276	Hypertonia	HP:0040282	ORPHA:284339
114034	TOE1	HP:0001250	Seizure	HP:0040283	ORPHA:284339
114034	TOE1	HP:0001250	Seizure	-	OMIM:614969
114034	TOE1	HP:0001252	Hypotonia	HP:0040282	ORPHA:284339
114034	TOE1	HP:0001252	Hypotonia	8/11	OMIM:614969
114034	TOE1	HP:0001251	Ataxia	2/5	OMIM:614969
114034	TOE1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:284339
114034	TOE1	HP:0001249	Intellectual disability	9/9	OMIM:614969
114034	TOE1	HP:0001266	Choreoathetosis	2/6	OMIM:614969
114034	TOE1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:284339
114034	TOE1	HP:0001263	Global developmental delay	13/13	OMIM:614969
114034	TOE1	HP:0001258	Spastic paraplegia	-	OMIM:614969
114034	TOE1	HP:0001257	Spasticity	HP:0040283	ORPHA:284339
114034	TOE1	HP:0001257	Spasticity	7/10	OMIM:614969
114034	TOE1	HP:0008665	Clitoral hypertrophy	HP:0040283	ORPHA:284339
114034	TOE1	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:284339
114034	TOE1	HP:0000062	Ambiguous genitalia	10/12	OMIM:614969
114034	TOE1	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:284339
114034	TOE1	HP:0000054	Micropenis	4/8	OMIM:614969
114034	TOE1	HP:0000054	Micropenis	HP:0040283	ORPHA:284339
114034	TOE1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:284339
114034	TOE1	HP:0001347	Hyperreflexia	5/6	OMIM:614969
114034	TOE1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:284339
114034	TOE1	HP:0000028	Cryptorchidism	4/5	OMIM:614969
114034	TOE1	HP:0001324	Muscle weakness	3/3	OMIM:614969
114034	TOE1	HP:0001344	Absent speech	-	OMIM:614969
114034	TOE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614969
114034	TOE1	HP:0001336	Myoclonus	3/4	OMIM:614969
114034	TOE1	HP:0001336	Myoclonus	HP:0040283	ORPHA:284339
114034	TOE1	HP:0001308	Tongue fasciculations	1/5	OMIM:614969
114034	TOE1	HP:0001321	Cerebellar hypoplasia	-	OMIM:614969
114034	TOE1	HP:0000151	Aplasia of the uterus	HP:0040283	ORPHA:284339
114034	TOE1	HP:0012110	Hypoplasia of the pons	12/12	OMIM:614969
114034	TOE1	HP:0000133	Gonadal dysgenesis	HP:0040283	ORPHA:284339
114034	TOE1	HP:0002003	Large forehead	1/13	OMIM:614969
114034	TOE1	HP:0002002	Deep philtrum	1/13	OMIM:614969
114034	TOE1	HP:0002060	Abnormal cerebral morphology	HP:0040282	ORPHA:284339
114034	TOE1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:284339
114034	TOE1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:614969
114034	TOE1	HP:0002059	Cerebral atrophy	-	OMIM:614969
114034	TOE1	HP:0002119	Ventriculomegaly	6/12	OMIM:614969
114034	TOE1	HP:0002104	Apnea	3/13	OMIM:614969
114034	TOE1	HP:0002179	Opisthotonus	1/5	OMIM:614969
114034	TOE1	HP:0003577	Congenital onset	-	OMIM:614969
114034	TOE1	HP:0011968	Feeding difficulties	6/6	OMIM:614969
114034	TOE1	HP:0002380	Fasciculations	HP:0040282	ORPHA:284339
114034	TOE1	HP:0002365	Hypoplasia of the brainstem	10/10	OMIM:614969
114034	TOE1	HP:0002365	Hypoplasia of the brainstem	HP:0040282	ORPHA:284339
114034	TOE1	HP:0001010	Hypopigmentation of the skin	1/13	OMIM:614969
114034	TOE1	HP:0001007	Hirsutism	1/13	OMIM:614969
114034	TOE1	HP:0000639	Nystagmus	HP:0040283	ORPHA:284339
114034	TOE1	HP:0000639	Nystagmus	4/7	OMIM:614969
114034	TOE1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:284339
114034	TOE1	HP:0000648	Optic atrophy	2/4	OMIM:614969
114034	TOE1	HP:0000657	Oculomotor apraxia	2/5	OMIM:614969
114034	TOE1	HP:0000664	Synophrys	1/13	OMIM:614969
114034	TOE1	HP:0006955	Olivopontocerebellar hypoplasia	HP:0040282	ORPHA:284339
114034	TOE1	HP:0004305	Involuntary movements	HP:0040283	ORPHA:284339
114034	TOE1	HP:0000768	Pectus carinatum	1/13	OMIM:614969
114034	TOE1	HP:0000729	Autistic behavior	1/3	OMIM:614969
114034	TOE1	HP:0012856	Abnormal scrotal rugation	HP:0040283	ORPHA:284339
114034	TOE1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:284339
114034	TOE1	HP:0003202	Skeletal muscle atrophy	3/3	OMIM:614969
114034	TOE1	HP:0000954	Single transverse palmar crease	1/13	OMIM:614969
114034	TOE1	HP:0000286	Epicanthus	HP:0040282	ORPHA:284339
114034	TOE1	HP:0000286	Epicanthus	1/13	OMIM:614969
114034	TOE1	HP:0000238	Hydrocephalus	1/12	OMIM:614969
114034	TOE1	HP:0000253	Progressive microcephaly	12/13	OMIM:614969
114034	TOE1	HP:0000252	Microcephaly	HP:0040282	ORPHA:284339
114034	TOE1	HP:0000218	High palate	HP:0040282	ORPHA:284339
114034	TOE1	HP:0000218	High palate	3/12	OMIM:614969
114034	TOE1	HP:0000215	Thick upper lip vermilion	2/13	OMIM:614969
114034	TOE1	HP:0000215	Thick upper lip vermilion	HP:0040282	ORPHA:284339
114034	TOE1	HP:0030197	Fatigable weakness of skeletal muscles	HP:0040282	ORPHA:284339
114034	TOE1	HP:0000369	Low-set ears	1/11	OMIM:614969
114034	TOE1	HP:0000336	Prominent supraorbital ridges	1/13	OMIM:614969
114034	TOE1	HP:0000347	Micrognathia	HP:0040282	ORPHA:284339
114034	TOE1	HP:0000347	Micrognathia	2/13	OMIM:614969
114034	TOE1	HP:0000400	Macrotia	2/11	OMIM:614969
114034	TOE1	HP:0000400	Macrotia	HP:0040282	ORPHA:284339
114034	TOE1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:284339
114034	TOE1	HP:0000455	Broad nasal tip	1/13	OMIM:614969
114034	TOE1	HP:0030261	Absent penis	HP:0040283	ORPHA:284339
114034	TOE1	HP:0030260	Microphallus	HP:0040283	ORPHA:284339
114034	TOE1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:284339
114034	TOE1	HP:0000431	Wide nasal bridge	2/13	OMIM:614969
114034	TOE1	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:284339
114049	BUD23	HP:0001181	Adducted thumb	HP:0040283	ORPHA:904
114049	BUD23	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:904
114049	BUD23	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:904
114049	BUD23	HP:0001297	Stroke	HP:0040282	ORPHA:904
114049	BUD23	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:904
114049	BUD23	HP:0001288	Gait disturbance	HP:0040281	ORPHA:904
114049	BUD23	HP:0001252	Hypotonia	HP:0040282	ORPHA:904
114049	BUD23	HP:0001251	Ataxia	HP:0040281	ORPHA:904
114049	BUD23	HP:0001249	Intellectual disability	HP:0040281	ORPHA:904
114049	BUD23	HP:0001260	Dysarthria	HP:0040283	ORPHA:904
114049	BUD23	HP:0001257	Spasticity	HP:0040282	ORPHA:904
114049	BUD23	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:904
114049	BUD23	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:904
114049	BUD23	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:904
114049	BUD23	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040283	ORPHA:904
114049	BUD23	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:904
114049	BUD23	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:904
114049	BUD23	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:904
114049	BUD23	HP:0000093	Proteinuria	HP:0040282	ORPHA:904
114049	BUD23	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:904
114049	BUD23	HP:0000075	Renal duplication	HP:0040283	ORPHA:904
114049	BUD23	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:904
114049	BUD23	HP:0001387	Joint stiffness	HP:0040282	ORPHA:904
114049	BUD23	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:904
114049	BUD23	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:904
114049	BUD23	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:904
114049	BUD23	HP:0000014	Abnormality of the bladder	HP:0040282	ORPHA:904
114049	BUD23	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:904
114049	BUD23	HP:0001361	Nystagmus-induced head nodding	HP:0040282	ORPHA:904
114049	BUD23	HP:0000025	Functional abnormality of male internal genitalia	HP:0040283	ORPHA:904
114049	BUD23	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:904
114049	BUD23	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:904
114049	BUD23	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:904
114049	BUD23	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:904
114049	BUD23	HP:0001337	Tremor	HP:0040281	ORPHA:904
114049	BUD23	HP:0001310	Dysmetria	HP:0040281	ORPHA:904
114049	BUD23	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:904
114049	BUD23	HP:0002650	Scoliosis	HP:0040283	ORPHA:904
114049	BUD23	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:904
114049	BUD23	HP:0002623	Overriding aorta	HP:0040283	ORPHA:904
114049	BUD23	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:904
114049	BUD23	HP:0000158	Macroglossia	HP:0040281	ORPHA:904
114049	BUD23	HP:0000154	Wide mouth	HP:0040281	ORPHA:904
114049	BUD23	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:904
114049	BUD23	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:904
114049	BUD23	HP:0000125	Pelvic kidney	HP:0040282	ORPHA:904
114049	BUD23	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:904
114049	BUD23	HP:0002024	Malabsorption	HP:0040283	ORPHA:904
114049	BUD23	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:904
114049	BUD23	HP:0002019	Constipation	HP:0040282	ORPHA:904
114049	BUD23	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:904
114049	BUD23	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:904
114049	BUD23	HP:0002027	Abdominal pain	HP:0040281	ORPHA:904
114049	BUD23	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:904
114049	BUD23	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:904
114049	BUD23	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:904
114049	BUD23	HP:0100539	Periorbital edema	HP:0040281	ORPHA:904
114049	BUD23	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:904
114049	BUD23	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:904
114049	BUD23	HP:0002141	Gait imbalance	HP:0040281	ORPHA:904
114049	BUD23	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:904
114049	BUD23	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:904
114049	BUD23	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:904
114049	BUD23	HP:0002183	Phonophobia	HP:0040281	ORPHA:904
114049	BUD23	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:904
114049	BUD23	HP:0010526	Dysgraphia	HP:0040281	ORPHA:904
114049	BUD23	HP:0002253	Colonic diverticula	HP:0040282	ORPHA:904
114049	BUD23	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:904
114049	BUD23	HP:0100785	Insomnia	HP:0040282	ORPHA:904
114049	BUD23	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:904
114049	BUD23	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:904
114049	BUD23	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:904
114049	BUD23	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:904
114049	BUD23	HP:0002376	Developmental regression	HP:0040283	ORPHA:904
114049	BUD23	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:904
114049	BUD23	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:904
114049	BUD23	HP:0010807	Open bite	HP:0040281	ORPHA:904
114049	BUD23	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:904
114049	BUD23	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:904
114049	BUD23	HP:0008499	High hypermetropia	HP:0040281	ORPHA:904
114049	BUD23	HP:0010780	Hyperacusis	HP:0040281	ORPHA:904
114049	BUD23	HP:0002308	Chiari malformation	HP:0040283	ORPHA:904
114049	BUD23	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:904
114049	BUD23	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:904
114049	BUD23	HP:0004295	Abnormal gastric mucosa morphology	HP:0040283	ORPHA:904
114049	BUD23	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:904
114049	BUD23	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040283	ORPHA:904
114049	BUD23	HP:0000635	Blue irides	HP:0040283	ORPHA:904
114049	BUD23	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:904
114049	BUD23	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:904
114049	BUD23	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:904
114049	BUD23	HP:0000691	Microdontia	HP:0040282	ORPHA:904
114049	BUD23	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:904
114049	BUD23	HP:0000670	Carious teeth	HP:0040283	ORPHA:904
114049	BUD23	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:904
114049	BUD23	HP:0000668	Hypodontia	HP:0040282	ORPHA:904
114049	BUD23	HP:0004322	Short stature	HP:0040281	ORPHA:904
114049	BUD23	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:904
114049	BUD23	HP:0004305	Involuntary movements	HP:0040281	ORPHA:904
114049	BUD23	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:904
114049	BUD23	HP:0004381	Supravalvular aortic stenosis	HP:0040282	ORPHA:904
114049	BUD23	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:904
114049	BUD23	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:904
114049	BUD23	HP:0100025	Overfriendliness	HP:0040281	ORPHA:904
114049	BUD23	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:904
114049	BUD23	HP:0000739	Anxiety	HP:0040281	ORPHA:904
114049	BUD23	HP:0000716	Depression	HP:0040281	ORPHA:904
114049	BUD23	HP:0000717	Autism	HP:0040282	ORPHA:904
114049	BUD23	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:904
114049	BUD23	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:904
114049	BUD23	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:904
114049	BUD23	HP:0004428	Elfin facies	HP:0040281	ORPHA:904
114049	BUD23	HP:0003198	Myopathy	HP:0040283	ORPHA:904
114049	BUD23	HP:0003196	Short nose	HP:0040281	ORPHA:904
114049	BUD23	HP:0000826	Precocious puberty	HP:0040283	ORPHA:904
114049	BUD23	HP:0000822	Hypertension	HP:0040282	ORPHA:904
114049	BUD23	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:904
114049	BUD23	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:904
114049	BUD23	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:904
114049	BUD23	HP:0000960	Sacral dimple	HP:0040282	ORPHA:904
114049	BUD23	HP:0000939	Osteoporosis	HP:0040283	ORPHA:904
114049	BUD23	HP:0000938	Osteopenia	HP:0040283	ORPHA:904
114049	BUD23	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:904
114049	BUD23	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:904
114049	BUD23	HP:0007720	Flat cornea	HP:0040283	ORPHA:904
114049	BUD23	HP:0000286	Epicanthus	HP:0040281	ORPHA:904
114049	BUD23	HP:0000280	Coarse facial features	HP:0040281	ORPHA:904
114049	BUD23	HP:0000275	Narrow face	HP:0040281	ORPHA:904
114049	BUD23	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:904
114049	BUD23	HP:0002829	Arthralgia	HP:0040282	ORPHA:904
114049	BUD23	HP:0002808	Kyphosis	HP:0040282	ORPHA:904
114049	BUD23	HP:0000252	Microcephaly	HP:0040282	ORPHA:904
114049	BUD23	HP:0001582	Redundant skin	HP:0040282	ORPHA:904
114049	BUD23	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:904
114049	BUD23	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:904
114049	BUD23	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:904
114049	BUD23	HP:0002857	Genu valgum	HP:0040282	ORPHA:904
114049	BUD23	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:904
114049	BUD23	HP:0001513	Obesity	HP:0040282	ORPHA:904
114049	BUD23	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:904
114049	BUD23	HP:0001609	Hoarse voice	HP:0040281	ORPHA:904
114049	BUD23	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:904
114049	BUD23	HP:0001618	Dysphonia	HP:0040283	ORPHA:904
114049	BUD23	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:904
114049	BUD23	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:904
114049	BUD23	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:904
114049	BUD23	HP:0000343	Long philtrum	HP:0040281	ORPHA:904
114049	BUD23	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:904
114049	BUD23	HP:0000337	Broad forehead	HP:0040281	ORPHA:904
114049	BUD23	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:904
114049	BUD23	HP:0000348	High forehead	HP:0040281	ORPHA:904
114049	BUD23	HP:0000347	Micrognathia	HP:0040281	ORPHA:904
114049	BUD23	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:904
114049	BUD23	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:904
114049	BUD23	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:904
114049	BUD23	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:904
114049	BUD23	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:904
114049	BUD23	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:904
114049	BUD23	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:904
114049	BUD23	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:904
114049	BUD23	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:904
114049	BUD23	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:904
114049	BUD23	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:904
114049	BUD23	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:904
114049	BUD23	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:904
114049	BUD23	HP:0000307	Pointed chin	HP:0040281	ORPHA:904
114049	BUD23	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:904
114049	BUD23	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:904
114049	BUD23	HP:0007957	Corneal opacity	HP:0040283	ORPHA:904
114049	BUD23	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:904
114049	BUD23	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:904
114049	BUD23	HP:0000400	Macrotia	HP:0040281	ORPHA:904
114049	BUD23	HP:0000486	Strabismus	HP:0040282	ORPHA:904
114049	BUD23	HP:0000485	Megalocornea	HP:0040283	ORPHA:904
114049	BUD23	HP:0000464	Abnormality of the neck	HP:0040281	ORPHA:904
114049	BUD23	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:904
114049	BUD23	HP:0001763	Pes planus	HP:0040282	ORPHA:904
114049	BUD23	HP:0000411	Protruding ear	HP:0040281	ORPHA:904
114049	BUD23	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:904
114049	BUD23	HP:0000518	Cataract	HP:0040283	ORPHA:904
114049	BUD23	HP:0001822	Hallux valgus	HP:0040282	ORPHA:904
114049	BUD23	HP:0000505	Visual impairment	HP:0040282	ORPHA:904
114049	BUD23	HP:0000501	Glaucoma	HP:0040283	ORPHA:904
114049	BUD23	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:904
114049	BUD23	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:904
114049	BUD23	HP:0000545	Myopia	HP:0040283	ORPHA:904
114327	EFHC1	HP:0001249	Intellectual disability	-	ORPHA:307
114327	EFHC1	HP:0001249	Intellectual disability	0/13	OMIM:254770
114327	EFHC1	HP:0100851	Abnormal emotional state	HP:0040283	ORPHA:1941
114327	EFHC1	HP:0012001	EEG with generalized polyspikes	-	OMIM:254770
114327	EFHC1	HP:0001328	Specific learning disability	HP:0040283	ORPHA:1941
114327	EFHC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:607631
114327	EFHC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:254770
114327	EFHC1	HP:0001336	Myoclonus	HP:0040282	ORPHA:1941
114327	EFHC1	HP:0000153	Abnormality of the mouth	HP:0040282	ORPHA:307
114327	EFHC1	HP:0000153	Abnormality of the mouth	HP:0040282	ORPHA:1941
114327	EFHC1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040281	ORPHA:1941
114327	EFHC1	HP:0002069	Bilateral tonic-clonic seizure	13/23	OMIM:254770
114327	EFHC1	HP:0002123	Generalized myoclonic seizure	-	OMIM:607631
114327	EFHC1	HP:0002121	Generalized non-motor (absence) seizure	14/23	OMIM:254770
114327	EFHC1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:307
114327	EFHC1	HP:0002121	Generalized non-motor (absence) seizure	2/2	OMIM:607631
114327	EFHC1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:1941
114327	EFHC1	HP:0002133	Status epilepticus	-	OMIM:254770
114327	EFHC1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:307
114327	EFHC1	HP:0002133	Status epilepticus	HP:0040283	ORPHA:1941
114327	EFHC1	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:307
114327	EFHC1	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:1941
114327	EFHC1	HP:0007000	Morning myoclonic jerks	-	OMIM:254770
114327	EFHC1	HP:0007000	Morning myoclonic jerks	HP:0040281	ORPHA:307
114327	EFHC1	HP:0002392	EEG with polyspike wave complexes	HP:0040281	ORPHA:307
114327	EFHC1	HP:0002392	EEG with polyspike wave complexes	HP:0040281	ORPHA:1941
114327	EFHC1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:307
114327	EFHC1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1941
114327	EFHC1	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	2/2	OMIM:607631
114327	EFHC1	HP:0007207	Photosensitive tonic-clonic seizure	HP:0040283	ORPHA:307
114327	EFHC1	HP:0003621	Juvenile onset	2/2	OMIM:607631
114327	EFHC1	HP:0003621	Juvenile onset	-	OMIM:254770
114327	EFHC1	HP:0007193	Bilateral tonic-clonic seizure on awakening	2/2	OMIM:607631
114327	EFHC1	HP:0000739	Anxiety	HP:0040283	ORPHA:1941
114327	EFHC1	HP:0000718	Aggressive behavior	HP:0040284	ORPHA:307
114327	EFHC1	HP:0032794	Myoclonic seizure	10/13	OMIM:254770
114327	EFHC1	HP:0032794	Myoclonic seizure	HP:0040283	ORPHA:1941
114327	EFHC1	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:307
114327	EFHC1	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:1941
114548	NLRP3	HP:0025143	Chills	-	OMIM:120100
114548	NLRP3	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0009926	Epiphora	-	OMIM:148200
114548	NLRP3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
114548	NLRP3	HP:0001293	Cranial nerve compression	-	OMIM:131300
114548	NLRP3	HP:0001287	Meningitis	11/14	OMIM:607115
114548	NLRP3	HP:0001287	Meningitis	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0001250	Seizure	1/6	OMIM:607115
114548	NLRP3	HP:0001252	Hypotonia	2/7	OMIM:615777
114548	NLRP3	HP:0001249	Intellectual disability	HP:0040283	ORPHA:1451
114548	NLRP3	HP:0001249	Intellectual disability	5/7	OMIM:615777
114548	NLRP3	HP:0001263	Global developmental delay	HP:0040283	ORPHA:1451
114548	NLRP3	HP:0001263	Global developmental delay	-	OMIM:615777
114548	NLRP3	HP:0002515	Waddling gait	54/102	OMIM:131300
114548	NLRP3	HP:0002516	Increased intracranial pressure	1/1	OMIM:191900
114548	NLRP3	HP:0002516	Increased intracranial pressure	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0032323	Periodic fever	-	OMIM:617772
114548	NLRP3	HP:0000083	Renal insufficiency	-	OMIM:191900
114548	NLRP3	HP:0000078	Abnormality of the genital system	HP:0040283	ORPHA:575
114548	NLRP3	HP:0001373	Joint dislocation	HP:0040282	ORPHA:1451
114548	NLRP3	HP:0001367	Abnormal joint morphology	HP:0040282	ORPHA:1451
114548	NLRP3	HP:0001369	Arthritis	-	OMIM:617772
114548	NLRP3	HP:0001369	Arthritis	HP:0040281	ORPHA:575
114548	NLRP3	HP:0001369	Arthritis	HP:0040281	ORPHA:47045
114548	NLRP3	HP:0001369	Arthritis	9/11	OMIM:607115
114548	NLRP3	HP:0001369	Arthritis	1/1	OMIM:120100
114548	NLRP3	HP:0001382	Joint hypermobility	-	OMIM:615777
114548	NLRP3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
114548	NLRP3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
114548	NLRP3	HP:0031191	Deep dermal perivascular inflammatory infiltrate	1/1	OMIM:191900
114548	NLRP3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
114548	NLRP3	HP:0001324	Muscle weakness	40/96	OMIM:131300
114548	NLRP3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
114548	NLRP3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
114548	NLRP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:617772
114548	NLRP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:120100
114548	NLRP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:191900
114548	NLRP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:148200
114548	NLRP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
114548	NLRP3	HP:0000006	Autosomal dominant inheritance	-	OMIM:607115
114548	NLRP3	HP:0002633	Vasculitis	0/1	OMIM:191900
114548	NLRP3	HP:0002633	Vasculitis	HP:0040283	ORPHA:575
114548	NLRP3	HP:0002652	Skeletal dysplasia	HP:0040282	ORPHA:1451
114548	NLRP3	HP:0002650	Scoliosis	12/14	OMIM:131300
114548	NLRP3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
114548	NLRP3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
114548	NLRP3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
114548	NLRP3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
114548	NLRP3	HP:0000175	Cleft palate	2/7	OMIM:615777
114548	NLRP3	HP:0000174	Abnormal palate morphology	HP:0040283	ORPHA:575
114548	NLRP3	HP:0001476	Delayed closure of the anterior fontanelle	HP:0040282	ORPHA:1451
114548	NLRP3	HP:0000100	Nephrotic syndrome	HP:0040282	ORPHA:575
114548	NLRP3	HP:0000112	Nephropathy	HP:0040282	ORPHA:575
114548	NLRP3	HP:0001433	Hepatosplenomegaly	6/6	OMIM:607115
114548	NLRP3	HP:0002716	Lymphadenopathy	-	OMIM:617772
114548	NLRP3	HP:0002716	Lymphadenopathy	6/6	OMIM:607115
114548	NLRP3	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:1451
114548	NLRP3	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:47045
114548	NLRP3	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0002027	Abdominal pain	HP:0040283	ORPHA:47045
114548	NLRP3	HP:0002027	Abdominal pain	HP:0040282	ORPHA:575
114548	NLRP3	HP:0003326	Myalgia	HP:0040281	ORPHA:47045
114548	NLRP3	HP:0003326	Myalgia	-	OMIM:191900
114548	NLRP3	HP:0003326	Myalgia	HP:0040283	ORPHA:575
114548	NLRP3	HP:0003326	Myalgia	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0003326	Myalgia	-	OMIM:120100
114548	NLRP3	HP:0002007	Frontal bossing	12/13	OMIM:607115
114548	NLRP3	HP:0002007	Frontal bossing	HP:0040282	ORPHA:1451
114548	NLRP3	HP:0100534	Episcleritis	HP:0040281	ORPHA:575
114548	NLRP3	HP:0100533	Inflammatory abnormality of the eye	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:575
114548	NLRP3	HP:0002076	Migraine	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0030953	Conjunctival hyperemia	2/2	OMIM:191900
114548	NLRP3	HP:0030953	Conjunctival hyperemia	-	OMIM:148200
114548	NLRP3	HP:0003388	Easy fatigability	36/76	OMIM:131300
114548	NLRP3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
114548	NLRP3	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:575
114548	NLRP3	HP:0003593	Infantile onset	1/1	OMIM:191900
114548	NLRP3	HP:0003593	Infantile onset	-	OMIM:120100
114548	NLRP3	HP:0003593	Infantile onset	2/8	OMIM:607115
114548	NLRP3	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:575
114548	NLRP3	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:1451
114548	NLRP3	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:575
114548	NLRP3	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0003565	Elevated erythrocyte sedimentation rate	3/3	OMIM:191900
114548	NLRP3	HP:0003565	Elevated erythrocyte sedimentation rate	9/9	OMIM:607115
114548	NLRP3	HP:0100759	Clubbing of fingers	2/2	OMIM:191900
114548	NLRP3	HP:0003510	Severe short stature	7/7	OMIM:615777
114548	NLRP3	HP:0033308	Patellar overgrowth	2/3	OMIM:607115
114548	NLRP3	HP:0001004	Lymphedema	1/3	OMIM:607115
114548	NLRP3	HP:0001025	Urticaria	-	OMIM:617772
114548	NLRP3	HP:0001025	Urticaria	1/1	OMIM:191900
114548	NLRP3	HP:0001025	Urticaria	HP:0040282	ORPHA:575
114548	NLRP3	HP:0001025	Urticaria	HP:0040281	ORPHA:47045
114548	NLRP3	HP:0001025	Urticaria	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0001025	Urticaria	1/1	OMIM:120100
114548	NLRP3	HP:0002353	EEG abnormality	HP:0040283	ORPHA:1451
114548	NLRP3	HP:0003677	Slowly progressive	-	OMIM:617772
114548	NLRP3	HP:0002315	Headache	-	OMIM:617772
114548	NLRP3	HP:0002315	Headache	HP:0040282	ORPHA:47045
114548	NLRP3	HP:0002315	Headache	-	OMIM:131300
114548	NLRP3	HP:0002315	Headache	1/1	OMIM:191900
114548	NLRP3	HP:0002315	Headache	-	OMIM:120100
114548	NLRP3	HP:0004976	Knee dislocation	6/7	OMIM:615777
114548	NLRP3	HP:0100654	Retrobulbar optic neuritis	HP:0040283	ORPHA:1451
114548	NLRP3	HP:0200034	Papule	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0009803	Short phalanx of finger	-	OMIM:615777
114548	NLRP3	HP:0001085	Papilledema	1/1	OMIM:191900
114548	NLRP3	HP:0001085	Papilledema	8/9	OMIM:607115
114548	NLRP3	HP:0010783	Erythema	HP:0040281	ORPHA:47045
114548	NLRP3	HP:0032154	Aphthous ulcer	1/1	OMIM:120100
114548	NLRP3	HP:0009763	Limb pain	63/92	OMIM:131300
114548	NLRP3	HP:0003623	Neonatal onset	5/8	OMIM:607115
114548	NLRP3	HP:0003621	Juvenile onset	1/2	OMIM:191900
114548	NLRP3	HP:0003621	Juvenile onset	29/33	OMIM:148200
114548	NLRP3	HP:0003621	Juvenile onset	-	OMIM:131300
114548	NLRP3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
114548	NLRP3	HP:0006824	Cranial nerve paralysis	HP:0040281	ORPHA:575
114548	NLRP3	HP:0004299	Hernia of the abdominal wall	HP:0040283	ORPHA:575
114548	NLRP3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
114548	NLRP3	HP:6001056	Out-toeing	-	OMIM:131300
114548	NLRP3	HP:0000651	Diplopia	-	OMIM:131300
114548	NLRP3	HP:0000648	Optic atrophy	HP:0040283	ORPHA:575
114548	NLRP3	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:1451
114548	NLRP3	HP:0001974	Increased total leukocyte count	11/11	OMIM:191900
114548	NLRP3	HP:0001974	Increased total leukocyte count	6/6	OMIM:607115
114548	NLRP3	HP:0001974	Increased total leukocyte count	-	OMIM:120100
114548	NLRP3	HP:0000618	Blindness	HP:0040283	ORPHA:1451
114548	NLRP3	HP:0000613	Photophobia	-	OMIM:148200
114548	NLRP3	HP:0001944	Dehydration	HP:0040283	ORPHA:47045
114548	NLRP3	HP:0001945	Fever	-	OMIM:617772
114548	NLRP3	HP:0001945	Fever	HP:0040283	ORPHA:575
114548	NLRP3	HP:0001945	Fever	1/1	OMIM:120100
114548	NLRP3	HP:0001945	Fever	HP:0040281	ORPHA:47045
114548	NLRP3	HP:0001945	Fever	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0001959	Polydipsia	HP:0040283	ORPHA:47045
114548	NLRP3	HP:0001954	Recurrent fever	5/5	OMIM:191900
114548	NLRP3	HP:0001954	Recurrent fever	18/19	OMIM:607115
114548	NLRP3	HP:0001954	Recurrent fever	-	OMIM:120100
114548	NLRP3	HP:0001956	Truncal obesity	2/7	OMIM:615777
114548	NLRP3	HP:0000622	Blurred vision	-	OMIM:148200
114548	NLRP3	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040282	ORPHA:575
114548	NLRP3	HP:0001903	Anemia	HP:0040283	ORPHA:575
114548	NLRP3	HP:0001903	Anemia	HP:0040283	OMIM:131300
114548	NLRP3	HP:0001903	Anemia	6/6	OMIM:607115
114548	NLRP3	HP:0001903	Anemia	HP:0040282	ORPHA:1451
114548	NLRP3	HP:0001917	Renal amyloidosis	HP:0040282	ORPHA:575
114548	NLRP3	HP:0001917	Renal amyloidosis	-	OMIM:191900
114548	NLRP3	HP:0001917	Renal amyloidosis	1/26	OMIM:120100
114548	NLRP3	HP:0001911	Abnormal granulocyte morphology	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0010049	Short metacarpal	-	OMIM:615777
114548	NLRP3	HP:0000678	Dental crowding	-	OMIM:615777
114548	NLRP3	HP:0000670	Carious teeth	-	OMIM:131300
114548	NLRP3	HP:0011304	Broad thumb	2/7	OMIM:615777
114548	NLRP3	HP:0000668	Hypodontia	-	OMIM:615777
114548	NLRP3	HP:0000664	Synophrys	-	OMIM:615777
114548	NLRP3	HP:0004322	Short stature	3/3	OMIM:191900
114548	NLRP3	HP:0004322	Short stature	HP:0040283	ORPHA:575
114548	NLRP3	HP:0004396	Poor appetite	-	OMIM:131300
114548	NLRP3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
114548	NLRP3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
114548	NLRP3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
114548	NLRP3	HP:0003026	Short long bone	7/7	OMIM:615777
114548	NLRP3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
114548	NLRP3	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:1451
114548	NLRP3	HP:0100014	Epiretinal membrane	2/34	OMIM:148200
114548	NLRP3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
114548	NLRP3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
114548	NLRP3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
114548	NLRP3	HP:0000750	Delayed speech and language development	-	OMIM:615777
114548	NLRP3	HP:0011463	Childhood onset	-	OMIM:191900
114548	NLRP3	HP:0011463	Childhood onset	1/8	OMIM:607115
114548	NLRP3	HP:0011462	Young adult onset	-	OMIM:617772
114548	NLRP3	HP:0011462	Young adult onset	4/33	OMIM:148200
114548	NLRP3	HP:0011461	Fetal onset	7/7	OMIM:615777
114548	NLRP3	HP:0000774	Narrow chest	2/7	OMIM:615777
114548	NLRP3	HP:0005764	Polyarticular arthritis	2/2	OMIM:191900
114548	NLRP3	HP:0000926	Platyspondyly	1/7	OMIM:615777
114548	NLRP3	HP:0003180	Flat acetabular roof	-	OMIM:615777
114548	NLRP3	HP:0004482	Relative macrocephaly	-	OMIM:615777
114548	NLRP3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
114548	NLRP3	HP:0000823	Delayed puberty	HP:0040283	ORPHA:575
114548	NLRP3	HP:0000823	Delayed puberty	-	OMIM:131300
114548	NLRP3	HP:0000894	Short clavicles	-	OMIM:615777
114548	NLRP3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
114548	NLRP3	HP:0000979	Purpura	HP:0040283	ORPHA:1451
114548	NLRP3	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:47045
114548	NLRP3	HP:0000989	Pruritus	HP:0040281	ORPHA:47045
114548	NLRP3	HP:0000988	Skin rash	HP:0040281	ORPHA:575
114548	NLRP3	HP:0000988	Skin rash	3/3	OMIM:607115
114548	NLRP3	HP:0000988	Skin rash	-	OMIM:120100
114548	NLRP3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
114548	NLRP3	HP:0000969	Edema	HP:0040282	ORPHA:1451
114548	NLRP3	HP:0008064	Ichthyosis	HP:0040283	ORPHA:575
114548	NLRP3	HP:0040186	Maculopapular exanthema	5/5	OMIM:191900
114548	NLRP3	HP:0000286	Epicanthus	1/7	OMIM:615777
114548	NLRP3	HP:0000280	Coarse facial features	2/7	OMIM:615777
114548	NLRP3	HP:0000256	Macrocephaly	HP:0040283	ORPHA:575
114548	NLRP3	HP:0000256	Macrocephaly	HP:0040282	ORPHA:1451
114548	NLRP3	HP:0007759	Opacification of the corneal stroma	18/34	OMIM:148200
114548	NLRP3	HP:0002829	Arthralgia	-	OMIM:617772
114548	NLRP3	HP:0002829	Arthralgia	HP:0040283	ORPHA:47045
114548	NLRP3	HP:0002829	Arthralgia	3/3	OMIM:191900
114548	NLRP3	HP:0002829	Arthralgia	HP:0040281	ORPHA:575
114548	NLRP3	HP:0002829	Arthralgia	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0002829	Arthralgia	11/11	OMIM:120100
114548	NLRP3	HP:0002827	Hip dislocation	3/7	OMIM:615777
114548	NLRP3	HP:0000252	Microcephaly	-	OMIM:615777
114548	NLRP3	HP:0002857	Genu valgum	-	OMIM:131300
114548	NLRP3	HP:0001533	Slender build	-	OMIM:131300
114548	NLRP3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
114548	NLRP3	HP:0001510	Growth delay	4/6	OMIM:607115
114548	NLRP3	HP:0001510	Growth delay	HP:0040283	ORPHA:1451
114548	NLRP3	HP:0007807	Optic nerve compression	-	OMIM:131300
114548	NLRP3	HP:0012378	Fatigue	HP:0040281	ORPHA:47045
114548	NLRP3	HP:0012378	Fatigue	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0012378	Fatigue	-	OMIM:120100
114548	NLRP3	HP:0012368	Flat face	7/7	OMIM:615777
114548	NLRP3	HP:0001608	Abnormality of the voice	HP:0040283	ORPHA:575
114548	NLRP3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
114548	NLRP3	HP:0000365	Hearing impairment	3/3	OMIM:191900
114548	NLRP3	HP:0000365	Hearing impairment	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0000365	Hearing impairment	0/1	OMIM:120100
114548	NLRP3	HP:0000365	Hearing impairment	10/67	OMIM:131300
114548	NLRP3	HP:0000365	Hearing impairment	2/6	OMIM:607115
114548	NLRP3	HP:0000366	Abnormality of the nose	HP:0040283	ORPHA:575
114548	NLRP3	HP:0000343	Long philtrum	1/7	OMIM:615777
114548	NLRP3	HP:0011001	Increased bone mineral density	-	OMIM:131300
114548	NLRP3	HP:0000311	Round face	2/7	OMIM:615777
114548	NLRP3	HP:0001622	Premature birth	HP:0040283	ORPHA:1451
114548	NLRP3	HP:0002970	Genu varum	-	OMIM:615777
114548	NLRP3	HP:0000303	Mandibular prognathia	-	OMIM:131300
114548	NLRP3	HP:0000408	Progressive sensorineural hearing impairment	HP:0040281	ORPHA:575
114548	NLRP3	HP:0000408	Progressive sensorineural hearing impairment	2/2	OMIM:191900
114548	NLRP3	HP:0000408	Progressive sensorineural hearing impairment	1/3	OMIM:607115
114548	NLRP3	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:47045
114548	NLRP3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
114548	NLRP3	HP:0000491	Keratitis	34/34	OMIM:148200
114548	NLRP3	HP:0000470	Short neck	1/7	OMIM:615777
114548	NLRP3	HP:0011107	Recurrent aphthous stomatitis	HP:0040283	ORPHA:575
114548	NLRP3	HP:0011107	Recurrent aphthous stomatitis	-	OMIM:191900
114548	NLRP3	HP:0012432	Chronic fatigue	3/3	OMIM:191900
114548	NLRP3	HP:0001769	Broad foot	HP:0040281	ORPHA:575
114548	NLRP3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
114548	NLRP3	HP:0001763	Pes planus	1/7	OMIM:615777
114548	NLRP3	HP:0001744	Splenomegaly	HP:0040281	ORPHA:575
114548	NLRP3	HP:0001744	Splenomegaly	HP:0040282	ORPHA:1451
114548	NLRP3	HP:0001761	Pes cavus	HP:0040283	ORPHA:575
114548	NLRP3	HP:0001840	Metatarsus adductus	-	OMIM:615777
114548	NLRP3	HP:0000520	Proptosis	2/4	OMIM:131300
114548	NLRP3	HP:0000520	Proptosis	-	OMIM:607115
114548	NLRP3	HP:0000520	Proptosis	7/7	OMIM:615777
114548	NLRP3	HP:0000520	Proptosis	HP:0040282	ORPHA:1451
114548	NLRP3	HP:0000509	Conjunctivitis	-	OMIM:617772
114548	NLRP3	HP:0000509	Conjunctivitis	HP:0040281	ORPHA:575
114548	NLRP3	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:47045
114548	NLRP3	HP:0000509	Conjunctivitis	3/4	OMIM:191900
114548	NLRP3	HP:0000509	Conjunctivitis	11/11	OMIM:120100
114548	NLRP3	HP:0000505	Visual impairment	HP:0040282	ORPHA:1451
114548	NLRP3	HP:0000501	Glaucoma	HP:0040283	ORPHA:575
114548	NLRP3	HP:0000592	Blue sclerae	2/7	OMIM:615777
114548	NLRP3	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0011227	Elevated circulating C-reactive protein concentration	3/3	OMIM:191900
114548	NLRP3	HP:0011227	Elevated circulating C-reactive protein concentration	3/3	OMIM:607115
114548	NLRP3	HP:0011227	Elevated circulating C-reactive protein concentration	11/11	OMIM:120100
114548	NLRP3	HP:0000554	Uveitis	2/6	OMIM:607115
114548	NLRP3	HP:0000554	Uveitis	HP:0040281	ORPHA:575
114548	NLRP3	HP:0000554	Uveitis	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0000554	Uveitis	1/1	OMIM:120100
114548	NLRP3	HP:0012534	Dysesthesia	HP:0040281	ORPHA:47045
114548	NLRP3	HP:0001872	Abnormality of thrombocytes	HP:0040282	ORPHA:1451
114548	NLRP3	HP:0000538	Pseudopapilledema	HP:0040281	ORPHA:1451
114548	NLRP3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
114548	NLRP3	HP:0001880	Increased total eosinophil count	4/6	OMIM:607115
114548	NLRP3	HP:0012514	Lower limb pain	4/4	OMIM:131300
114548	NLRP3	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:1451
114798	SLITRK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613229
114798	SLITRK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:137580
114798	SLITRK1	HP:0012167	Hair-pulling	-	OMIM:613229
114798	SLITRK1	HP:0001426	Non-Mendelian inheritance	-	OMIM:613229
114798	SLITRK1	HP:0010529	Echolalia	-	OMIM:137580
114798	SLITRK1	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:137580
114798	SLITRK1	HP:0002360	Sleep abnormality	-	OMIM:137580
114798	SLITRK1	HP:0100035	Phonic tics	-	OMIM:137580
114798	SLITRK1	HP:0100034	Motor tics	-	OMIM:137580
114798	SLITRK1	HP:0000742	Self-mutilation	-	OMIM:137580
114798	SLITRK1	HP:0000718	Aggressive behavior	-	OMIM:137580
114798	SLITRK1	HP:0000722	Compulsive behaviors	-	OMIM:137580
114798	SLITRK1	HP:0000722	Compulsive behaviors	-	OMIM:613229
114798	SLITRK1	HP:0001596	Alopecia	-	OMIM:613229
114803	MYSM1	HP:0001156	Brachydactyly	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:508542
114803	MYSM1	HP:0001263	Global developmental delay	HP:0040284	OMIM:618116
114803	MYSM1	HP:0010976	Decreased total B cell count	HP:0040282	ORPHA:508542
114803	MYSM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618116
114803	MYSM1	HP:0008905	Rhizomelia	-	OMIM:618116
114803	MYSM1	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:508542
114803	MYSM1	HP:0011800	Midface retrusion	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0011800	Midface retrusion	-	OMIM:618116
114803	MYSM1	HP:0003577	Congenital onset	-	OMIM:618116
114803	MYSM1	HP:0002205	Recurrent respiratory infections	-	OMIM:618116
114803	MYSM1	HP:0004991	Rhizomelic arm shortening	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0006872	Cerebral hypoplasia	HP:0040282	ORPHA:508542
114803	MYSM1	HP:0005528	Bone marrow hypocellularity	HP:0040281	ORPHA:508542
114803	MYSM1	HP:0005528	Bone marrow hypocellularity	-	OMIM:618116
114803	MYSM1	HP:0001903	Anemia	HP:0040281	ORPHA:508542
114803	MYSM1	HP:0001903	Anemia	-	OMIM:618116
114803	MYSM1	HP:0010049	Short metacarpal	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:508542
114803	MYSM1	HP:0001999	Abnormal facial shape	HP:0040284	OMIM:618116
114803	MYSM1	HP:0004322	Short stature	HP:0040282	ORPHA:508542
114803	MYSM1	HP:0004322	Short stature	-	OMIM:618116
114803	MYSM1	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:618116
114803	MYSM1	HP:0000765	Abnormal thorax morphology	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:508542
114803	MYSM1	HP:0000916	Broad clavicles	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0005792	Short humerus	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0012817	Noncompaction cardiomyopathy	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0000958	Dry skin	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0000958	Dry skin	-	OMIM:618116
114803	MYSM1	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0000964	Eczematoid dermatitis	-	OMIM:618116
114803	MYSM1	HP:0000280	Coarse facial features	HP:0040282	ORPHA:508542
114803	MYSM1	HP:0000243	Trigonocephaly	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0000252	Microcephaly	HP:0040284	OMIM:618116
114803	MYSM1	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0002863	Myelodysplasia	HP:0040282	ORPHA:508542
114803	MYSM1	HP:0005180	Tricuspid regurgitation	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0000369	Low-set ears	-	OMIM:618116
114803	MYSM1	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:508542
114803	MYSM1	HP:0012490	Panniculitis	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0000518	Cataract	HP:0040283	ORPHA:508542
114803	MYSM1	HP:0031688	Erythroid dysplasia	HP:0040282	ORPHA:508542
114803	MYSM1	HP:0031689	Megakaryocyte dysplasia	HP:0040282	ORPHA:508542
114803	MYSM1	HP:0001888	Decreased total lymphocyte count	HP:0040282	ORPHA:508542
114803	MYSM1	HP:0001896	Reticulocytopenia	HP:0040282	ORPHA:508542
114803	MYSM1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:508542
114803	MYSM1	HP:0001882	Decreased total leukocyte count	-	OMIM:618116
114803	MYSM1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:508542
114803	MYSM1	HP:0001873	Thrombocytopenia	HP:0040284	OMIM:618116
114803	MYSM1	HP:0001875	Decreased total neutrophil count	HP:0040282	ORPHA:508542
114902	C1QTNF5	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
114902	C1QTNF5	HP:0001141	Severely reduced visual acuity	HP:0040282	ORPHA:67042
114902	C1QTNF5	HP:0007401	Macular atrophy	HP:0040283	ORPHA:67042
114902	C1QTNF5	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
114902	C1QTNF5	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
114902	C1QTNF5	HP:0000006	Autosomal dominant inheritance	-	OMIM:605670
114902	C1QTNF5	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
114902	C1QTNF5	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
114902	C1QTNF5	HP:0500087	Peripapillary atrophy	HP:0040283	ORPHA:67042
114902	C1QTNF5	HP:0003581	Adult onset	-	OMIM:605670
114902	C1QTNF5	HP:0001099	Fundus atrophy	HP:0040283	ORPHA:67042
114902	C1QTNF5	HP:0200065	Chorioretinal degeneration	-	OMIM:605670
114902	C1QTNF5	HP:0001089	Iris atrophy	HP:0040283	ORPHA:67042
114902	C1QTNF5	HP:0003621	Juvenile onset	8/19	OMIM:180100
114902	C1QTNF5	HP:0030534	Abnormal best corrected visual acuity test	HP:0040281	ORPHA:67042
114902	C1QTNF5	HP:0012628	Abnormal suspensory ligament of lens morphology	HP:0040283	ORPHA:67042
114902	C1QTNF5	HP:0000642	Red-green dyschromatopsia	HP:0040283	ORPHA:67042
114902	C1QTNF5	HP:0000613	Photophobia	HP:0040283	ORPHA:67042
114902	C1QTNF5	HP:0000608	Macular degeneration	HP:0040282	ORPHA:67042
114902	C1QTNF5	HP:0000662	Nyctalopia	HP:0040282	ORPHA:67042
114902	C1QTNF5	HP:0000662	Nyctalopia	26/28	OMIM:180100
114902	C1QTNF5	HP:0004328	Abnormal anterior eye segment morphology	HP:0040283	ORPHA:67042
114902	C1QTNF5	HP:0100014	Epiretinal membrane	HP:0040284	ORPHA:67042
114902	C1QTNF5	HP:0011463	Childhood onset	3/19	OMIM:180100
114902	C1QTNF5	HP:0011462	Young adult onset	8/19	OMIM:180100
114902	C1QTNF5	HP:0011510	Drusen	HP:0040282	ORPHA:67042
114902	C1QTNF5	HP:0011506	Choroidal neovascularization	HP:0040282	ORPHA:67042
114902	C1QTNF5	HP:0011506	Choroidal neovascularization	-	OMIM:605670
114902	C1QTNF5	HP:0012805	Iris transillumination defect	HP:0040283	ORPHA:67042
114902	C1QTNF5	HP:0007791	Patchy atrophy of the retinal pigment epithelium	HP:0040282	ORPHA:67042
114902	C1QTNF5	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
114902	C1QTNF5	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
114902	C1QTNF5	HP:0007830	Adult-onset night blindness	-	OMIM:605670
114902	C1QTNF5	HP:0031530	Multifocal subretinal deposits	HP:0040282	ORPHA:67042
114902	C1QTNF5	HP:0031531	Sub-RPE deposits	-	OMIM:605670
114902	C1QTNF5	HP:0007906	Ocular hypertension	HP:0040284	ORPHA:67042
114902	C1QTNF5	HP:0000488	Retinopathy	-	OMIM:605670
114902	C1QTNF5	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
114902	C1QTNF5	HP:0000575	Scotoma	5/18	OMIM:180100
114902	C1QTNF5	HP:0000575	Scotoma	-	OMIM:605670
114902	C1QTNF5	HP:0000572	Visual loss	HP:0040282	ORPHA:67042
114902	C1QTNF5	HP:0000572	Visual loss	-	OMIM:605670
114902	C1QTNF5	HP:0000533	Chorioretinal atrophy	HP:0040282	ORPHA:67042
114902	C1QTNF5	HP:0000552	Tritanomaly	HP:0040283	ORPHA:67042
114902	C1QTNF5	HP:0000546	Retinal degeneration	-	OMIM:605670
114902	C1QTNF5	HP:0000543	Optic disc pallor	1/1	OMIM:180100
114902	C1QTNF5	HP:0000545	Myopia	-	OMIM:180100
114928	GPRASP2	HP:0001249	Intellectual disability	0/4	OMIM:301018
114928	GPRASP2	HP:0001263	Global developmental delay	0/4	OMIM:301018
114928	GPRASP2	HP:0001419	X-linked recessive inheritance	-	OMIM:301018
114928	GPRASP2	HP:0003577	Congenital onset	6/6	OMIM:301018
114928	GPRASP2	HP:0011480	Unilateral microphthalmos	1/4	OMIM:301018
114928	GPRASP2	HP:0000365	Hearing impairment	6/6	OMIM:301018
114928	GPRASP2	HP:0000358	Posteriorly rotated ears	1/4	OMIM:301018
114928	GPRASP2	HP:0000402	Stenosis of the external auditory canal	2/4	OMIM:301018
114928	GPRASP2	HP:0000413	Atresia of the external auditory canal	4/4	OMIM:301018
114928	GPRASP2	HP:0000431	Wide nasal bridge	3/4	OMIM:301018
114928	GPRASP2	HP:0000506	Telecanthus	4/4	OMIM:301018
114928	GPRASP2	HP:0000508	Ptosis	3/4	OMIM:301018
114928	GPRASP2	HP:0000574	Thick eyebrow	3/4	OMIM:301018
115019	SLC26A9	HP:0032261	Nontuberculous mycobacterial pulmonary infection	HP:0040284	ORPHA:586
115019	SLC26A9	HP:0002570	Steatorrhea	HP:0040283	ORPHA:586
115019	SLC26A9	HP:0032342	Reduced forced expiratory volume in one second	HP:0040283	ORPHA:586
115019	SLC26A9	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:586
115019	SLC26A9	HP:0001394	Cirrhosis	HP:0040284	ORPHA:586
115019	SLC26A9	HP:0002783	Recurrent lower respiratory tract infections	HP:0040283	ORPHA:586
115019	SLC26A9	HP:0002726	Recurrent Staphylococcus aureus infections	HP:0040283	ORPHA:586
115019	SLC26A9	HP:0002724	Recurrent Aspergillus infections	HP:0040283	ORPHA:586
115019	SLC26A9	HP:0002024	Malabsorption	HP:0040281	ORPHA:586
115019	SLC26A9	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:586
115019	SLC26A9	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:586
115019	SLC26A9	HP:0002099	Asthma	HP:0040283	ORPHA:586
115019	SLC26A9	HP:0100582	Nasal polyposis	HP:0040284	ORPHA:586
115019	SLC26A9	HP:0002110	Bronchiectasis	HP:0040281	ORPHA:586
115019	SLC26A9	HP:0002107	Pneumothorax	HP:0040284	ORPHA:586
115019	SLC26A9	HP:0002105	Hemoptysis	HP:0040284	ORPHA:586
115019	SLC26A9	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:586
115019	SLC26A9	HP:0000739	Anxiety	HP:0040283	ORPHA:586
115019	SLC26A9	HP:0000716	Depression	HP:0040283	ORPHA:586
115019	SLC26A9	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:586
115019	SLC26A9	HP:0004401	Meconium ileus	HP:0040283	ORPHA:586
115019	SLC26A9	HP:0012873	Absent vas deferens	HP:0040281	ORPHA:586
115019	SLC26A9	HP:0045082	Decreased body mass index	HP:0040283	ORPHA:586
115019	SLC26A9	HP:0003251	Male infertility	HP:0040282	ORPHA:586
115019	SLC26A9	HP:0000939	Osteoporosis	HP:0040284	ORPHA:586
115019	SLC26A9	HP:0000938	Osteopenia	HP:0040283	ORPHA:586
115019	SLC26A9	HP:0012236	Elevated sweat chloride	HP:0040281	ORPHA:586
115019	SLC26A9	HP:0000246	Sinusitis	HP:0040283	ORPHA:586
115019	SLC26A9	HP:0001508	Failure to thrive	HP:0040282	ORPHA:586
115019	SLC26A9	HP:0002842	Recurrent Burkholderia cepacia infections	HP:0040284	ORPHA:586
115019	SLC26A9	HP:0006536	Airway obstruction	HP:0040281	ORPHA:586
115019	SLC26A9	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:586
115019	SLC26A9	HP:0000365	Hearing impairment	HP:0040284	ORPHA:586
115019	SLC26A9	HP:0005376	Recurrent Haemophilus influenzae infections	HP:0040283	ORPHA:586
115019	SLC26A9	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:586
115286	SLC25A26	HP:0001290	Generalized hypotonia	HP:0040283	OMIM:616794
115286	SLC25A26	HP:0001263	Global developmental delay	-	OMIM:616794
115286	SLC25A26	HP:0003828	Variable expressivity	-	OMIM:616794
115286	SLC25A26	HP:0001324	Muscle weakness	-	OMIM:616794
115286	SLC25A26	HP:0000007	Autosomal recessive inheritance	-	OMIM:616794
115286	SLC25A26	HP:0002027	Abdominal pain	-	OMIM:616794
115286	SLC25A26	HP:0002151	Increased circulating lactate concentration	-	OMIM:616794
115286	SLC25A26	HP:0011923	Decreased activity of mitochondrial complex I	-	OMIM:616794
115286	SLC25A26	HP:0003593	Infantile onset	-	OMIM:616794
115286	SLC25A26	HP:0003542	Increased circulating pyruvate concentration	HP:0040283	OMIM:616794
115286	SLC25A26	HP:0008347	Decreased activity of mitochondrial complex IV	-	OMIM:616794
115286	SLC25A26	HP:0004900	Severe lactic acidosis	-	OMIM:616794
115286	SLC25A26	HP:0004396	Poor appetite	-	OMIM:616794
115286	SLC25A26	HP:0003200	Ragged-red muscle fibers	-	OMIM:616794
115286	SLC25A26	HP:0002878	Respiratory failure	-	OMIM:616794
115286	SLC25A26	HP:0001561	Polyhydramnios	-	OMIM:616794
115286	SLC25A26	HP:0001558	Decreased fetal movement	-	OMIM:616794
115286	SLC25A26	HP:0012378	Fatigue	-	OMIM:616794
115286	SLC25A26	HP:0001635	Congestive heart failure	-	OMIM:616794
115399	LRRC56	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
115399	LRRC56	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
115399	LRRC56	HP:0001217	Clubbing	HP:0040283	ORPHA:244
115399	LRRC56	HP:0000007	Autosomal recessive inheritance	-	OMIM:618254
115399	LRRC56	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
115399	LRRC56	HP:0002783	Recurrent lower respiratory tract infections	2/2	OMIM:618254
115399	LRRC56	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
115399	LRRC56	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
115399	LRRC56	HP:0031245	Productive cough	HP:0040282	ORPHA:244
115399	LRRC56	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
115399	LRRC56	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
115399	LRRC56	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
115399	LRRC56	HP:0002110	Bronchiectasis	1/2	OMIM:618254
115399	LRRC56	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
115399	LRRC56	HP:0008222	Female infertility	HP:0040283	ORPHA:244
115399	LRRC56	HP:0003577	Congenital onset	-	OMIM:618254
115399	LRRC56	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
115399	LRRC56	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
115399	LRRC56	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
115399	LRRC56	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
115399	LRRC56	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
115399	LRRC56	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
115399	LRRC56	HP:0012735	Cough	2/2	OMIM:618254
115399	LRRC56	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
115399	LRRC56	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
115399	LRRC56	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
115399	LRRC56	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
115399	LRRC56	HP:0030828	Wheezing	HP:0040283	ORPHA:244
115399	LRRC56	HP:0003251	Male infertility	HP:0040282	ORPHA:244
115399	LRRC56	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
115399	LRRC56	HP:0033036	Decreased nasal nitric oxide	1/1	OMIM:618254
115399	LRRC56	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
115399	LRRC56	HP:0031417	Rhinorrhea	1/2	OMIM:618254
115399	LRRC56	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
115399	LRRC56	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
115399	LRRC56	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
115399	LRRC56	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
115399	LRRC56	HP:0006528	Chronic lung disease	2/2	OMIM:618254
115399	LRRC56	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
115399	LRRC56	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
115399	LRRC56	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
115399	LRRC56	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
115399	LRRC56	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
115399	LRRC56	HP:0001651	Dextrocardia	1/4	OMIM:618254
115399	LRRC56	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
115399	LRRC56	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
115399	LRRC56	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
115399	LRRC56	HP:0000403	Recurrent otitis media	2/2	OMIM:618254
115399	LRRC56	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
115399	LRRC56	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
115399	LRRC56	HP:0001719	Double outlet right ventricle	2/2	OMIM:618254
115399	LRRC56	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
115399	LRRC56	HP:0001746	Asplenia	HP:0040284	ORPHA:244
115399	LRRC56	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
115399	LRRC56	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
115399	LRRC56	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
115399	LRRC56	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
115399	LRRC56	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
115650	TNFRSF13C	HP:0001287	Meningitis	-	OMIM:240500
115650	TNFRSF13C	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	4/4	OMIM:240500
115650	TNFRSF13C	HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	2/2	OMIM:613494
115650	TNFRSF13C	HP:0002664	Neoplasm	-	OMIM:240500
115650	TNFRSF13C	HP:0000007	Autosomal recessive inheritance	-	OMIM:613494
115650	TNFRSF13C	HP:0000007	Autosomal recessive inheritance	-	OMIM:240500
115650	TNFRSF13C	HP:0002665	Lymphoma	-	OMIM:240500
115650	TNFRSF13C	HP:0000006	Autosomal dominant inheritance	-	OMIM:240500
115650	TNFRSF13C	HP:0002718	Recurrent bacterial infections	-	OMIM:240500
115650	TNFRSF13C	HP:0002718	Recurrent bacterial infections	-	OMIM:613494
115650	TNFRSF13C	HP:0002716	Lymphadenopathy	-	OMIM:240500
115650	TNFRSF13C	HP:0002729	Follicular hyperplasia	-	OMIM:240500
115650	TNFRSF13C	HP:0002720	Decreased circulating IgA concentration	5/5	OMIM:240500
115650	TNFRSF13C	HP:0002014	Diarrhea	-	OMIM:240500
115650	TNFRSF13C	HP:0002110	Bronchiectasis	-	OMIM:240500
115650	TNFRSF13C	HP:0011840	Abnormality of T cell physiology	-	OMIM:240500
115650	TNFRSF13C	HP:0011839	Abnormal T cell count	0/5	OMIM:240500
115650	TNFRSF13C	HP:0011839	Abnormal T cell count	0/2	OMIM:613494
115650	TNFRSF13C	HP:0002240	Hepatomegaly	-	OMIM:240500
115650	TNFRSF13C	HP:0003581	Adult onset	2/2	OMIM:613494
115650	TNFRSF13C	HP:0004315	Decreased circulating IgG concentration	4/5	OMIM:240500
115650	TNFRSF13C	HP:0004315	Decreased circulating IgG concentration	2/2	OMIM:613494
115650	TNFRSF13C	HP:0002837	Recurrent bronchitis	5/5	OMIM:240500
115650	TNFRSF13C	HP:0002850	Decreased circulating total IgM	2/2	OMIM:613494
115650	TNFRSF13C	HP:0002850	Decreased circulating total IgM	0/5	OMIM:240500
115650	TNFRSF13C	HP:0006532	Recurrent pneumonia	-	OMIM:240500
115650	TNFRSF13C	HP:0006532	Recurrent pneumonia	2/2	OMIM:613494
115650	TNFRSF13C	HP:0002960	Autoimmunity	-	OMIM:240500
115650	TNFRSF13C	HP:0005387	Combined immunodeficiency	5/5	OMIM:240500
115650	TNFRSF13C	HP:0005387	Combined immunodeficiency	2/2	OMIM:613494
115650	TNFRSF13C	HP:0000403	Recurrent otitis media	5/5	OMIM:240500
115650	TNFRSF13C	HP:0011108	Recurrent sinusitis	1/2	OMIM:613494
115650	TNFRSF13C	HP:0011108	Recurrent sinusitis	5/5	OMIM:240500
115650	TNFRSF13C	HP:0001744	Splenomegaly	-	OMIM:240500
115650	TNFRSF13C	HP:0000509	Conjunctivitis	-	OMIM:240500
115908	CTHRC1	HP:0001442	Typified by somatic mosaicism	-	OMIM:614266
115908	CTHRC1	HP:0002020	Gastroesophageal reflux	-	OMIM:614266
115908	CTHRC1	HP:0100580	Barrett esophagus	-	OMIM:614266
115908	CTHRC1	HP:0004791	Esophageal ulceration	HP:0040281	OMIM:614266
115908	CTHRC1	HP:0011459	Esophageal carcinoma	-	OMIM:614266
115948	ODAD3	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
115948	ODAD3	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
115948	ODAD3	HP:0001217	Clubbing	HP:0040283	ORPHA:244
115948	ODAD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:616037
115948	ODAD3	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
115948	ODAD3	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
115948	ODAD3	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
115948	ODAD3	HP:0031245	Productive cough	HP:0040282	ORPHA:244
115948	ODAD3	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
115948	ODAD3	HP:0002099	Asthma	-	OMIM:616037
115948	ODAD3	HP:0002093	Respiratory insufficiency	4/5	OMIM:616037
115948	ODAD3	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
115948	ODAD3	HP:0100582	Nasal polyposis	-	OMIM:616037
115948	ODAD3	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
115948	ODAD3	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
115948	ODAD3	HP:0002110	Bronchiectasis	2/3	OMIM:616037
115948	ODAD3	HP:0008222	Female infertility	HP:0040283	ORPHA:244
115948	ODAD3	HP:0003577	Congenital onset	5/5	OMIM:616037
115948	ODAD3	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
115948	ODAD3	HP:0002205	Recurrent respiratory infections	4/5	OMIM:616037
115948	ODAD3	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
115948	ODAD3	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
115948	ODAD3	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
115948	ODAD3	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	-	OMIM:616037
115948	ODAD3	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
115948	ODAD3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
115948	ODAD3	HP:0012735	Cough	-	OMIM:616037
115948	ODAD3	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
115948	ODAD3	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
115948	ODAD3	HP:0004469	Chronic bronchitis	1/5	OMIM:616037
115948	ODAD3	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
115948	ODAD3	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
115948	ODAD3	HP:0030828	Wheezing	HP:0040283	ORPHA:244
115948	ODAD3	HP:0003251	Male infertility	HP:0040282	ORPHA:244
115948	ODAD3	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
115948	ODAD3	HP:0033036	Decreased nasal nitric oxide	1/1	OMIM:616037
115948	ODAD3	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
115948	ODAD3	HP:0012265	Ciliary dyskinesia	5/5	OMIM:616037
115948	ODAD3	HP:0012256	Absent outer dynein arms	-	OMIM:616037
115948	ODAD3	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
115948	ODAD3	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
115948	ODAD3	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
115948	ODAD3	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
115948	ODAD3	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
115948	ODAD3	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
115948	ODAD3	HP:0001696	Situs inversus totalis	3/5	OMIM:616037
115948	ODAD3	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
115948	ODAD3	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
115948	ODAD3	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
115948	ODAD3	HP:0001651	Dextrocardia	2/5	OMIM:616037
115948	ODAD3	HP:0001629	Ventricular septal defect	1/5	OMIM:616037
115948	ODAD3	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
115948	ODAD3	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
115948	ODAD3	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
115948	ODAD3	HP:0000403	Recurrent otitis media	2/5	OMIM:616037
115948	ODAD3	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
115948	ODAD3	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
115948	ODAD3	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
115948	ODAD3	HP:0011109	Chronic sinusitis	3/5	OMIM:616037
115948	ODAD3	HP:0001746	Asplenia	HP:0040284	ORPHA:244
115948	ODAD3	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
115948	ODAD3	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
115948	ODAD3	HP:0001742	Nasal congestion	-	OMIM:616037
115948	ODAD3	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
115948	ODAD3	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
115948	ODAD3	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
116085	SLC22A12	HP:0008651	Uric acid urolithiasis independent of gout	HP:0040282	ORPHA:94088
116085	SLC22A12	HP:0008682	Renal tubular epithelial necrosis	2/2	OMIM:220150
116085	SLC22A12	HP:0000091	Abnormal renal tubule morphology	HP:0040282	ORPHA:94088
116085	SLC22A12	HP:0000093	Proteinuria	1/2	OMIM:220150
116085	SLC22A12	HP:6000746	Elevated fractional excretion of urate	3/3	OMIM:220150
116085	SLC22A12	HP:0000007	Autosomal recessive inheritance	-	OMIM:220150
116085	SLC22A12	HP:0030973	Postexertional symptom exacerbation	HP:0040281	ORPHA:94088
116085	SLC22A12	HP:0002018	Nausea	HP:0040283	ORPHA:94088
116085	SLC22A12	HP:0002013	Vomiting	HP:0040283	ORPHA:94088
116085	SLC22A12	HP:0100520	Oliguria	1/2	OMIM:220150
116085	SLC22A12	HP:0033132	Renal cortical hyperechogenicity	2/2	OMIM:220150
116085	SLC22A12	HP:0002150	Hypercalciuria	HP:0040283	ORPHA:94088
116085	SLC22A12	HP:0003418	Back pain	HP:0040283	ORPHA:94088
116085	SLC22A12	HP:0003537	Hypouricemia	3/3	OMIM:220150
116085	SLC22A12	HP:0003537	Hypouricemia	HP:0040280	ORPHA:94088
116085	SLC22A12	HP:0012622	Chronic kidney disease	HP:0040283	ORPHA:94088
116085	SLC22A12	HP:0001919	Acute kidney injury	2/2	OMIM:220150
116085	SLC22A12	HP:0001919	Acute kidney injury	HP:0040282	ORPHA:94088
116085	SLC22A12	HP:0000791	Uric acid nephrolithiasis	2/2	OMIM:220150
116085	SLC22A12	HP:0000790	Hematuria	HP:0040283	ORPHA:94088
116085	SLC22A12	HP:0003149	Hyperuricosuria	1/1	OMIM:220150
116085	SLC22A12	HP:0003149	Hyperuricosuria	HP:0040280	ORPHA:94088
116085	SLC22A12	HP:0003138	Increased blood urea nitrogen	HP:0040283	ORPHA:94088
116085	SLC22A12	HP:0003259	Elevated circulating creatinine concentration	1/2	OMIM:220150
116085	SLC22A12	HP:0034368	Urolithiasis	2/2	OMIM:220150
116085	SLC22A12	HP:0012213	Decreased glomerular filtration rate	HP:0040283	ORPHA:94088
116085	SLC22A12	HP:0012211	Abnormal renal physiology	HP:0040282	ORPHA:94088
116085	SLC22A12	HP:0025710	Late young adult onset	1/2	OMIM:220150
116085	SLC22A12	HP:0025709	Intermediate young adult onset	1/2	OMIM:220150
116085	SLC22A12	HP:0012595	Mild proteinuria	HP:0040283	ORPHA:94088
116115	ZNF526	HP:0009879	Simplified gyral pattern	3/5	OMIM:619877
116115	ZNF526	HP:0002421	Poor head control	4/5	OMIM:619877
116115	ZNF526	HP:0001276	Hypertonia	4/5	OMIM:619877
116115	ZNF526	HP:0002540	Inability to walk	3/5	OMIM:619877
116115	ZNF526	HP:0002521	Hypsarrhythmia	1/5	OMIM:619877
116115	ZNF526	HP:0033725	Thin corpus callosum	3/5	OMIM:619877
116115	ZNF526	HP:0000007	Autosomal recessive inheritance	-	OMIM:619877
116115	ZNF526	HP:0000154	Wide mouth	1/5	OMIM:619877
116115	ZNF526	HP:0008936	Axial hypotonia	5/5	OMIM:619877
116115	ZNF526	HP:0002069	Bilateral tonic-clonic seizure	1/5	OMIM:619877
116115	ZNF526	HP:0002188	Delayed CNS myelination	3/5	OMIM:619877
116115	ZNF526	HP:0003593	Infantile onset	1/5	OMIM:619877
116115	ZNF526	HP:0000687	Widely spaced teeth	1/5	OMIM:619877
116115	ZNF526	HP:0012736	Profound global developmental delay	5/5	OMIM:619877
116115	ZNF526	HP:0000733	Motor stereotypy	1/3	OMIM:619877
116115	ZNF526	HP:0011461	Fetal onset	4/5	OMIM:619877
116115	ZNF526	HP:0000826	Precocious puberty	1/5	OMIM:619877
116115	ZNF526	HP:0000252	Microcephaly	5/5	OMIM:619877
116115	ZNF526	HP:0000219	Thin upper lip vermilion	1/5	OMIM:619877
116115	ZNF526	HP:0011097	Epileptic spasm	2/5	OMIM:619877
116115	ZNF526	HP:0000365	Hearing impairment	2/5	OMIM:619877
116115	ZNF526	HP:0000340	Sloping forehead	4/5	OMIM:619877
116115	ZNF526	HP:0032794	Myoclonic seizure	3/5	OMIM:619877
116115	ZNF526	HP:0000316	Hypertelorism	1/5	OMIM:619877
116115	ZNF526	HP:0000307	Pointed chin	1/5	OMIM:619877
116115	ZNF526	HP:0000400	Macrotia	4/5	OMIM:619877
116115	ZNF526	HP:0000426	Prominent nasal bridge	1/5	OMIM:619877
116115	ZNF526	HP:0000518	Cataract	5/5	OMIM:619877
116115	ZNF526	HP:0000582	Upslanted palpebral fissure	3/5	OMIM:619877
116150	NUS1	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
116150	NUS1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
116150	NUS1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
116150	NUS1	HP:0001290	Generalized hypotonia	2/2	OMIM:617082
116150	NUS1	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
116150	NUS1	HP:0001270	Motor delay	2/6	OMIM:617831
116150	NUS1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
116150	NUS1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
116150	NUS1	HP:0001250	Seizure	3/3	OMIM:617831
116150	NUS1	HP:0001250	Seizure	HP:0040282	ORPHA:442835
116150	NUS1	HP:0001251	Ataxia	2/2	OMIM:617831
116150	NUS1	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
116150	NUS1	HP:0001249	Intellectual disability	5/5	OMIM:617831
116150	NUS1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
116150	NUS1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
116150	NUS1	HP:0001260	Dysarthria	1/3	OMIM:617831
116150	NUS1	HP:0001263	Global developmental delay	2/2	OMIM:617082
116150	NUS1	HP:0001263	Global developmental delay	2/3	OMIM:617831
116150	NUS1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
116150	NUS1	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
116150	NUS1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
116150	NUS1	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
116150	NUS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617082
116150	NUS1	HP:0001337	Tremor	HP:0040283	ORPHA:442835
116150	NUS1	HP:0001337	Tremor	5/6	OMIM:617831
116150	NUS1	HP:0000006	Autosomal dominant inheritance	20/20	OMIM:617831
116150	NUS1	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
116150	NUS1	HP:0002650	Scoliosis	2/2	OMIM:617082
116150	NUS1	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
116150	NUS1	HP:0008936	Axial hypotonia	2/2	OMIM:617082
116150	NUS1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
116150	NUS1	HP:0002069	Bilateral tonic-clonic seizure	2/3	OMIM:617831
116150	NUS1	HP:0002069	Bilateral tonic-clonic seizure	2/2	OMIM:617082
116150	NUS1	HP:0002066	Gait ataxia	1/3	OMIM:617831
116150	NUS1	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
116150	NUS1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
116150	NUS1	HP:0002123	Generalized myoclonic seizure	-	OMIM:617831
116150	NUS1	HP:0002120	Cerebral cortical atrophy	1/1	OMIM:617082
116150	NUS1	HP:0002121	Generalized non-motor (absence) seizure	2/3	OMIM:617831
116150	NUS1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
116150	NUS1	HP:0002133	Status epilepticus	2/2	OMIM:617082
116150	NUS1	HP:0003577	Congenital onset	2/2	OMIM:617082
116150	NUS1	HP:0100704	Cerebral visual impairment	1/1	OMIM:617082
116150	NUS1	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
116150	NUS1	HP:0200134	Epileptic encephalopathy	3/3	OMIM:617831
116150	NUS1	HP:0007024	Pseudobulbar paralysis	1/1	OMIM:617082
116150	NUS1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
116150	NUS1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
116150	NUS1	HP:0002384	Focal impaired awareness seizure	1/3	OMIM:617831
116150	NUS1	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
116150	NUS1	HP:0002353	EEG abnormality	3/3	OMIM:617831
116150	NUS1	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
116150	NUS1	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
116150	NUS1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
116150	NUS1	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
116150	NUS1	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
116150	NUS1	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
116150	NUS1	HP:0004322	Short stature	HP:0040283	ORPHA:442835
116150	NUS1	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
116150	NUS1	HP:0000750	Delayed speech and language development	4/6	OMIM:617831
116150	NUS1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
116150	NUS1	HP:0000717	Autism	HP:0040283	ORPHA:442835
116150	NUS1	HP:0000729	Autistic behavior	1/3	OMIM:617831
116150	NUS1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
116150	NUS1	HP:0011463	Childhood onset	3/3	OMIM:617831
116150	NUS1	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
116150	NUS1	HP:0000998	Hypertrichosis	1/2	OMIM:617082
116150	NUS1	HP:0034353	Appendicular spasticity	2/2	OMIM:617082
116150	NUS1	HP:0000252	Microcephaly	2/2	OMIM:617082
116150	NUS1	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
116150	NUS1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
116150	NUS1	HP:0001508	Failure to thrive	1/2	OMIM:617082
116150	NUS1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
116150	NUS1	HP:0001511	Intrauterine growth retardation	1/2	OMIM:617082
116150	NUS1	HP:0007843	Attenuation of retinal blood vessels	1/1	OMIM:617082
116150	NUS1	HP:0000365	Hearing impairment	1/1	OMIM:617082
116150	NUS1	HP:0000348	High forehead	HP:0040283	ORPHA:442835
116150	NUS1	HP:0032794	Myoclonic seizure	1/3	OMIM:617831
116150	NUS1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
116150	NUS1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
116150	NUS1	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
116150	NUS1	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
116150	NUS1	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
116150	NUS1	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
116150	NUS1	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
116150	NUS1	HP:0000543	Optic disc pallor	1/1	OMIM:617082
116228	COX20	HP:0002490	Increased CSF lactate	1/1	OMIM:619054
116228	COX20	HP:0002451	Limb dystonia	1/2	OMIM:619054
116228	COX20	HP:0001252	Hypotonia	1/1	OMIM:619054
116228	COX20	HP:0001251	Ataxia	3/3	OMIM:619054
116228	COX20	HP:0001266	Choreoathetosis	1/2	OMIM:619054
116228	COX20	HP:0001260	Dysarthria	2/2	OMIM:619054
116228	COX20	HP:0000007	Autosomal recessive inheritance	-	OMIM:619054
116228	COX20	HP:0003390	Sensory axonal neuropathy	-	OMIM:619054
116228	COX20	HP:0003487	Babinski sign	1/2	OMIM:619054
116228	COX20	HP:0002151	Increased circulating lactate concentration	3/3	OMIM:619054
116228	COX20	HP:0002198	Dilated fourth ventricle	-	OMIM:619054
116228	COX20	HP:0008347	Decreased activity of mitochondrial complex IV	11/11	OMIM:619054
116228	COX20	HP:0002359	Frequent falls	1/2	OMIM:619054
116228	COX20	HP:0003621	Juvenile onset	2/2	OMIM:619054
116228	COX20	HP:0006855	Cerebellar vermis atrophy	2/2	OMIM:619054
116228	COX20	HP:0009027	Foot dorsiflexor weakness	1/2	OMIM:619054
116228	COX20	HP:0000750	Delayed speech and language development	1/1	OMIM:619054
116228	COX20	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:619054
116228	COX20	HP:0001518	Small for gestational age	1/1	OMIM:619054
116228	COX20	HP:0000473	Torticollis	1/2	OMIM:619054
116369	SLC26A8	HP:0000006	Autosomal dominant inheritance	-	OMIM:606766
116369	SLC26A8	HP:0011462	Young adult onset	3/3	OMIM:606766
116369	SLC26A8	HP:0003251	Male infertility	3/3	OMIM:606766
116369	SLC26A8	HP:0012207	Reduced sperm motility	3/3	OMIM:606766
116442	RAB39B	HP:0002465	Poor speech	-	OMIM:311510
116442	RAB39B	HP:0001256	Intellectual disability, mild	2/7	OMIM:311510
116442	RAB39B	HP:0001250	Seizure	HP:0040282	ORPHA:2379
116442	RAB39B	HP:0001250	Seizure	-	OMIM:311510
116442	RAB39B	HP:0001250	Seizure	3/9	OMIM:300271
116442	RAB39B	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2379
116442	RAB39B	HP:0001249	Intellectual disability	9/9	OMIM:300271
116442	RAB39B	HP:0001260	Dysarthria	-	OMIM:311510
116442	RAB39B	HP:0001263	Global developmental delay	-	OMIM:311510
116442	RAB39B	HP:0001263	Global developmental delay	-	OMIM:300271
116442	RAB39B	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	6/6	OMIM:311510
116442	RAB39B	HP:0001355	Megalencephaly	-	OMIM:311510
116442	RAB39B	HP:0001300	Parkinsonism	7/7	OMIM:311510
116442	RAB39B	HP:0001419	X-linked recessive inheritance	-	OMIM:311510
116442	RAB39B	HP:0001419	X-linked recessive inheritance	-	OMIM:300271
116442	RAB39B	HP:0002007	Frontal bossing	-	OMIM:311510
116442	RAB39B	HP:0002007	Frontal bossing	HP:0040281	ORPHA:2379
116442	RAB39B	HP:0002067	Bradykinesia	7/7	OMIM:311510
116442	RAB39B	HP:0002063	Rigidity	7/7	OMIM:311510
116442	RAB39B	HP:0002063	Rigidity	HP:0040281	ORPHA:2379
116442	RAB39B	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:2379
116442	RAB39B	HP:0002172	Postural instability	5/7	OMIM:311510
116442	RAB39B	HP:0003596	Middle age onset	5/7	OMIM:311510
116442	RAB39B	HP:0002396	Cogwheel rigidity	HP:0040281	ORPHA:2379
116442	RAB39B	HP:0002396	Cogwheel rigidity	-	OMIM:311510
116442	RAB39B	HP:0002362	Shuffling gait	-	OMIM:311510
116442	RAB39B	HP:0002322	Resting tremor	6/7	OMIM:311510
116442	RAB39B	HP:0100660	Dyskinesia	-	OMIM:311510
116442	RAB39B	HP:0004322	Short stature	4/9	OMIM:300271
116442	RAB39B	HP:0000752	Hyperactivity	-	OMIM:300271
116442	RAB39B	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:2379
116442	RAB39B	HP:0000733	Motor stereotypy	-	OMIM:300271
116442	RAB39B	HP:0000726	Dementia	HP:0040283	OMIM:311510
116442	RAB39B	HP:0000729	Autistic behavior	1/9	OMIM:300271
116442	RAB39B	HP:0011462	Young adult onset	2/7	OMIM:311510
116442	RAB39B	HP:0100315	Lewy bodies	-	OMIM:311510
116442	RAB39B	HP:0000256	Macrocephaly	-	OMIM:311510
116442	RAB39B	HP:0000256	Macrocephaly	HP:0040281	ORPHA:2379
116442	RAB39B	HP:0000256	Macrocephaly	6/9	OMIM:300271
116442	RAB39B	HP:0000276	Long face	-	OMIM:300271
116442	RAB39B	HP:0000268	Dolichocephaly	-	OMIM:300271
116442	RAB39B	HP:0000486	Strabismus	HP:0040282	ORPHA:2379
116461	TSEN15	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040283	ORPHA:2524
116461	TSEN15	HP:0010862	Delayed fine motor development	2/2	OMIM:617026
116461	TSEN15	HP:0001270	Motor delay	HP:0040282	ORPHA:2524
116461	TSEN15	HP:0001250	Seizure	2/4	OMIM:617026
116461	TSEN15	HP:0001250	Seizure	HP:0040281	ORPHA:2524
116461	TSEN15	HP:0001252	Hypotonia	2/4	OMIM:617026
116461	TSEN15	HP:0001249	Intellectual disability	4/4	OMIM:617026
116461	TSEN15	HP:0001265	Hyporeflexia	1/4	OMIM:617026
116461	TSEN15	HP:0001266	Choreoathetosis	HP:0040281	ORPHA:2524
116461	TSEN15	HP:0001263	Global developmental delay	4/4	OMIM:617026
116461	TSEN15	HP:0001257	Spasticity	HP:0040283	ORPHA:2524
116461	TSEN15	HP:0002540	Inability to walk	1/4	OMIM:617026
116461	TSEN15	HP:0002536	Abnormal cortical gyration	HP:0040283	ORPHA:2524
116461	TSEN15	HP:0001347	Hyperreflexia	1/4	OMIM:617026
116461	TSEN15	HP:0031162	Impaired oropharyngeal swallow response	HP:0040281	ORPHA:2524
116461	TSEN15	HP:0033725	Thin corpus callosum	1/2	OMIM:617026
116461	TSEN15	HP:0000007	Autosomal recessive inheritance	-	OMIM:617026
116461	TSEN15	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:2524
116461	TSEN15	HP:0001321	Cerebellar hypoplasia	2/2	OMIM:617026
116461	TSEN15	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:2524
116461	TSEN15	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:2524
116461	TSEN15	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:2524
116461	TSEN15	HP:0007598	Bilateral single transverse palmar creases	HP:0040283	ORPHA:2524
116461	TSEN15	HP:0012110	Hypoplasia of the pons	2/2	OMIM:617026
116461	TSEN15	HP:0002719	Recurrent infections	HP:0040282	ORPHA:2524
116461	TSEN15	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2524
116461	TSEN15	HP:0002033	Poor suck	HP:0040282	ORPHA:2524
116461	TSEN15	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2524
116461	TSEN15	HP:0003487	Babinski sign	1/4	OMIM:617026
116461	TSEN15	HP:0003487	Babinski sign	HP:0040283	ORPHA:2524
116461	TSEN15	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:2524
116461	TSEN15	HP:0002120	Cerebral cortical atrophy	1/2	OMIM:617026
116461	TSEN15	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:2524
116461	TSEN15	HP:0002104	Apnea	HP:0040282	ORPHA:2524
116461	TSEN15	HP:0002194	Delayed gross motor development	3/4	OMIM:617026
116461	TSEN15	HP:0002268	Paroxysmal dystonia	HP:0040282	ORPHA:2524
116461	TSEN15	HP:0003593	Infantile onset	3/4	OMIM:617026
116461	TSEN15	HP:0003577	Congenital onset	1/4	OMIM:617026
116461	TSEN15	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:2524
116461	TSEN15	HP:0003558	Viral infection-induced rhabdomyolysis	HP:0040283	ORPHA:2524
116461	TSEN15	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:2524
116461	TSEN15	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:2524
116461	TSEN15	HP:0002365	Hypoplasia of the brainstem	HP:0040282	ORPHA:2524
116461	TSEN15	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:2524
116461	TSEN15	HP:0002350	Cerebellar cyst	HP:0040284	ORPHA:2524
116461	TSEN15	HP:0200049	Upper limb hypertonia	HP:0040283	ORPHA:2524
116461	TSEN15	HP:0006850	Hypoplasia of the ventral pons	HP:0040281	ORPHA:2524
116461	TSEN15	HP:0006895	Lower limb hypertonia	HP:0040283	ORPHA:2524
116461	TSEN15	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:2524
116461	TSEN15	HP:0001999	Abnormal facial shape	-	ORPHA:2524
116461	TSEN15	HP:0006989	Dysplastic corpus callosum	HP:0040283	ORPHA:2524
116461	TSEN15	HP:0000737	Irritability	2/3	OMIM:617026
116461	TSEN15	HP:0000750	Delayed speech and language development	4/4	OMIM:617026
116461	TSEN15	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:2524
116461	TSEN15	HP:0012765	Widened cerebellar subarachnoid space	HP:0040283	ORPHA:2524
116461	TSEN15	HP:0034353	Appendicular spasticity	1/4	OMIM:617026
116461	TSEN15	HP:0000253	Progressive microcephaly	4/4	OMIM:617026
116461	TSEN15	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:2524
116461	TSEN15	HP:0000340	Sloping forehead	HP:0040282	ORPHA:2524
116461	TSEN15	HP:0011171	Simple febrile seizure	HP:0040283	ORPHA:2524
116461	TSEN15	HP:0000486	Strabismus	1/4	OMIM:617026
116461	TSEN15	HP:0012469	Infantile spasms	HP:0040282	ORPHA:2524
116461	TSEN15	HP:0012510	Extra-axial cerebrospinal fluid accumulation	2/2	OMIM:617026
116519	APOA5	HP:0000006	Autosomal dominant inheritance	-	OMIM:145750
116519	APOA5	HP:0000006	Autosomal dominant inheritance	-	OMIM:144650
116519	APOA5	HP:0003362	Increased VLDL cholesterol concentration	-	OMIM:145750
116519	APOA5	HP:0003362	Increased VLDL cholesterol concentration	-	OMIM:144650
116519	APOA5	HP:0002155	Hypertriglyceridemia	-	OMIM:145750
116519	APOA5	HP:0003563	Decreased LDL cholesterol concentration	-	OMIM:144650
116519	APOA5	HP:0001039	Atheroeruptive xanthoma	-	OMIM:145750
116519	APOA5	HP:0001952	Glucose intolerance	-	OMIM:145750
116519	APOA5	HP:0004416	Precocious atherosclerosis	-	OMIM:145750
116519	APOA5	HP:0000819	Diabetes mellitus	-	OMIM:144650
116519	APOA5	HP:0040075	Hypopituitarism	-	OMIM:145750
116519	APOA5	HP:0003233	Decreased HDL cholesterol concentration	-	OMIM:144650
116519	APOA5	HP:0012238	Increased circulating chylomicron concentration	-	OMIM:144650
116931	MED12L	HP:0001290	Generalized hypotonia	2/6	OMIM:618872
116931	MED12L	HP:0100807	Long fingers	2/7	OMIM:618872
116931	MED12L	HP:0001274	Agenesis of corpus callosum	1/7	OMIM:618872
116931	MED12L	HP:0001270	Motor delay	4/6	OMIM:618872
116931	MED12L	HP:0001250	Seizure	1/7	OMIM:618872
116931	MED12L	HP:0001249	Intellectual disability	7/7	OMIM:618872
116931	MED12L	HP:0001212	Prominent fingertip pads	1/7	OMIM:618872
116931	MED12L	HP:0000047	Hypospadias	1/4	OMIM:618872
116931	MED12L	HP:0008872	Feeding difficulties in infancy	1/7	OMIM:618872
116931	MED12L	HP:0000006	Autosomal dominant inheritance	-	OMIM:618872
116931	MED12L	HP:0000194	Open mouth	1/7	OMIM:618872
116931	MED12L	HP:0000160	Narrow mouth	1/7	OMIM:618872
116931	MED12L	HP:0007687	Unilateral ptosis	1/7	OMIM:618872
116931	MED12L	HP:0002705	High, narrow palate	2/7	OMIM:618872
116931	MED12L	HP:0002714	Downturned corners of mouth	1/7	OMIM:618872
116931	MED12L	HP:0002020	Gastroesophageal reflux	2/7	OMIM:618872
116931	MED12L	HP:0002019	Constipation	3/7	OMIM:618872
116931	MED12L	HP:0002079	Hypoplasia of the corpus callosum	1/7	OMIM:618872
116931	MED12L	HP:0007018	Attention deficit hyperactivity disorder	3/7	OMIM:618872
116931	MED12L	HP:0002360	Sleep abnormality	3/7	OMIM:618872
116931	MED12L	HP:0000612	Iris coloboma	1/7	OMIM:618872
116931	MED12L	HP:0005619	Thoracolumbar kyphosis	1/7	OMIM:618872
116931	MED12L	HP:0012724	Upper eyelid edema	3/7	OMIM:618872
116931	MED12L	HP:0000739	Anxiety	2/7	OMIM:618872
116931	MED12L	HP:0000750	Delayed speech and language development	7/7	OMIM:618872
116931	MED12L	HP:0000718	Aggressive behavior	4/7	OMIM:618872
116931	MED12L	HP:0000729	Autistic behavior	4/7	OMIM:618872
116931	MED12L	HP:0045075	Sparse eyebrow	1/7	OMIM:618872
116931	MED12L	HP:0000219	Thin upper lip vermilion	1/7	OMIM:618872
116931	MED12L	HP:0000232	Everted lower lip vermilion	1/7	OMIM:618872
116931	MED12L	HP:0000348	High forehead	1/7	OMIM:618872
116931	MED12L	HP:0000316	Hypertelorism	1/7	OMIM:618872
116931	MED12L	HP:0000322	Short philtrum	1/7	OMIM:618872
116931	MED12L	HP:0000325	Triangular face	1/7	OMIM:618872
116931	MED12L	HP:0000307	Pointed chin	1/7	OMIM:618872
116931	MED12L	HP:0005280	Depressed nasal bridge	1/7	OMIM:618872
116931	MED12L	HP:0000486	Strabismus	1/7	OMIM:618872
116931	MED12L	HP:0000494	Downslanted palpebral fissures	2/7	OMIM:618872
116931	MED12L	HP:0000490	Deeply set eye	1/7	OMIM:618872
116931	MED12L	HP:0000463	Anteverted nares	1/7	OMIM:618872
116931	MED12L	HP:0001763	Pes planus	1/7	OMIM:618872
116931	MED12L	HP:0000414	Bulbous nose	2/7	OMIM:618872
116931	MED12L	HP:0000426	Prominent nasal bridge	2/7	OMIM:618872
116931	MED12L	HP:0000540	Hypermetropia	2/7	OMIM:618872
116931	MED12L	HP:0000545	Myopia	1/7	OMIM:618872
117144	CATSPER1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612997
117144	CATSPER1	HP:0011462	Young adult onset	2/2	OMIM:612997
117144	CATSPER1	HP:0000798	Oligozoospermia	2/2	OMIM:612997
117144	CATSPER1	HP:0003251	Male infertility	2/2	OMIM:612997
117144	CATSPER1	HP:0012207	Reduced sperm motility	2/2	OMIM:612997
117144	CATSPER1	HP:0012208	Immotile sperm	1/2	OMIM:612997
117155	CATSPER2	HP:0008619	Bilateral sensorineural hearing impairment	10/10	OMIM:611102
117155	CATSPER2	HP:0008669	Abnormal spermatogenesis	3/3	OMIM:611102
117155	CATSPER2	HP:0000027	Azoospermia	HP:0040281	ORPHA:94064
117155	CATSPER2	HP:0000007	Autosomal recessive inheritance	-	OMIM:612997
117155	CATSPER2	HP:0000007	Autosomal recessive inheritance	-	OMIM:611102
117155	CATSPER2	HP:0003577	Congenital onset	10/10	OMIM:611102
117155	CATSPER2	HP:0011462	Young adult onset	2/2	OMIM:612997
117155	CATSPER2	HP:0000798	Oligozoospermia	2/2	OMIM:612997
117155	CATSPER2	HP:0012868	Abnormal sperm tail morphology	3/3	OMIM:611102
117155	CATSPER2	HP:0012865	Abnormal sperm head morphology	3/3	OMIM:611102
117155	CATSPER2	HP:0003251	Male infertility	HP:0040281	ORPHA:94064
117155	CATSPER2	HP:0003251	Male infertility	3/3	OMIM:611102
117155	CATSPER2	HP:0003251	Male infertility	2/2	OMIM:612997
117155	CATSPER2	HP:0012207	Reduced sperm motility	3/3	OMIM:611102
117155	CATSPER2	HP:0012207	Reduced sperm motility	2/2	OMIM:612997
117155	CATSPER2	HP:0012208	Immotile sperm	1/2	OMIM:612997
117155	CATSPER2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:94064
117155	CATSPER2	HP:0001751	Abnormal vestibular function	0/10	OMIM:611102
117156	SCGB3A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:600807
117156	SCGB3A2	HP:0001426	Non-Mendelian inheritance	-	OMIM:600807
117156	SCGB3A2	HP:0002099	Asthma	-	OMIM:600807
117156	SCGB3A2	HP:4000007	Bronchoconstriction	-	OMIM:600807
117156	SCGB3A2	HP:0032933	Airway hyperresponsiveness	-	OMIM:600807
117531	TMC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:600974
117531	TMC1	HP:0000006	Autosomal dominant inheritance	-	OMIM:606705
117531	TMC1	HP:0003577	Congenital onset	13/31	OMIM:600974
117531	TMC1	HP:0003621	Juvenile onset	-	OMIM:606705
117531	TMC1	HP:0003621	Juvenile onset	18/31	OMIM:600974
117531	TMC1	HP:0000360	Tinnitus	-	OMIM:606705
117531	TMC1	HP:0000407	Sensorineural hearing impairment	-	OMIM:606705
117531	TMC1	HP:0000407	Sensorineural hearing impairment	-	OMIM:600974
117531	TMC1	HP:0001751	Abnormal vestibular function	0/31	OMIM:600974
117581	TWIST2	HP:0001156	Brachydactyly	1/12	OMIM:209885
117581	TWIST2	HP:0001126	Cryptophthalmos	-	OMIM:200110
117581	TWIST2	HP:0001126	Cryptophthalmos	HP:0040282	ORPHA:920
117581	TWIST2	HP:0010935	Abnormality of the upper urinary tract	HP:0040282	ORPHA:1807
117581	TWIST2	HP:0001195	Single umbilical artery	1/10	OMIM:200110
117581	TWIST2	HP:0008551	Microtia	HP:0040281	ORPHA:920
117581	TWIST2	HP:0001249	Intellectual disability	1/12	OMIM:209885
117581	TWIST2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:920
117581	TWIST2	HP:0002561	Absent nipple	1/12	OMIM:209885
117581	TWIST2	HP:0002557	Hypoplastic nipples	9/12	OMIM:209885
117581	TWIST2	HP:0002557	Hypoplastic nipples	4/10	OMIM:200110
117581	TWIST2	HP:0002557	Hypoplastic nipples	HP:0040282	ORPHA:1231
117581	TWIST2	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:1231
117581	TWIST2	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:920
117581	TWIST2	HP:0007392	Excessive wrinkled skin	HP:0040282	ORPHA:920
117581	TWIST2	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:1807
117581	TWIST2	HP:0000062	Ambiguous genitalia	3/10	OMIM:200110
117581	TWIST2	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:920
117581	TWIST2	HP:0000064	Hypoplastic labia minora	1/9	OMIM:209885
117581	TWIST2	HP:0000059	Hypoplastic labia majora	1/9	OMIM:209885
117581	TWIST2	HP:0000059	Hypoplastic labia majora	4/5	OMIM:200110
117581	TWIST2	HP:0000055	Abnormal female external genitalia morphology	HP:0040282	ORPHA:920
117581	TWIST2	HP:0000054	Micropenis	1/5	OMIM:200110
117581	TWIST2	HP:0000049	Shawl scrotum	HP:0040283	ORPHA:1231
117581	TWIST2	HP:0000028	Cryptorchidism	1/3	OMIM:209885
117581	TWIST2	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:1807
117581	TWIST2	HP:0007495	Prematurely aged appearance	HP:0040281	ORPHA:1807
117581	TWIST2	HP:0000007	Autosomal recessive inheritance	-	OMIM:227260
117581	TWIST2	HP:0000006	Autosomal dominant inheritance	-	OMIM:200110
117581	TWIST2	HP:0000006	Autosomal dominant inheritance	-	OMIM:209885
117581	TWIST2	HP:0000188	Short upper lip	HP:0040283	OMIM:200110
117581	TWIST2	HP:0000154	Wide mouth	HP:0040281	ORPHA:920
117581	TWIST2	HP:0000154	Wide mouth	9/10	OMIM:200110
117581	TWIST2	HP:0000154	Wide mouth	HP:0040281	ORPHA:1231
117581	TWIST2	HP:0000154	Wide mouth	12/12	OMIM:209885
117581	TWIST2	HP:0007646	Absent lower eyelashes	-	OMIM:227260
117581	TWIST2	HP:0002714	Downturned corners of mouth	HP:0040281	ORPHA:1807
117581	TWIST2	HP:0002023	Anal atresia	2/3	OMIM:227260
117581	TWIST2	HP:0002023	Anal atresia	HP:0040282	ORPHA:1807
117581	TWIST2	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:920
117581	TWIST2	HP:0010554	Cutaneous finger syndactyly	4/10	OMIM:200110
117581	TWIST2	HP:0011823	Chin with horizontal crease	5/12	OMIM:227260
117581	TWIST2	HP:0003577	Congenital onset	12/12	OMIM:209885
117581	TWIST2	HP:0003577	Congenital onset	9/10	OMIM:200110
117581	TWIST2	HP:0002223	Absent eyebrow	-	OMIM:200110
117581	TWIST2	HP:0002223	Absent eyebrow	HP:0040281	ORPHA:920
117581	TWIST2	HP:0200102	Sparse or absent eyelashes	HP:0040281	ORPHA:1231
117581	TWIST2	HP:0002230	Generalized hirsutism	HP:0040281	ORPHA:1231
117581	TWIST2	HP:0002213	Fine hair	HP:0040281	ORPHA:920
117581	TWIST2	HP:0010720	Abnormal hair pattern	HP:0040283	ORPHA:920
117581	TWIST2	HP:0010720	Abnormal hair pattern	HP:0040281	ORPHA:1807
117581	TWIST2	HP:0009743	Distichiasis	HP:0040282	ORPHA:1807
117581	TWIST2	HP:0009743	Distichiasis	19/21	OMIM:227260
117581	TWIST2	HP:0100783	Breast aplasia	HP:0040282	ORPHA:1231
117581	TWIST2	HP:0100781	Abnormal sacroiliac joint morphology	HP:0040281	ORPHA:1807
117581	TWIST2	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040281	ORPHA:920
117581	TWIST2	HP:0010669	Hypoplasia of the zygomatic bone	1/10	OMIM:200110
117581	TWIST2	HP:0010648	Dermal translucency	2/12	OMIM:209885
117581	TWIST2	HP:0430009	Hypoplasia of eyelid	3/12	OMIM:200110
117581	TWIST2	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:1807
117581	TWIST2	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:920
117581	TWIST2	HP:0200020	Corneal erosion	HP:0040283	ORPHA:920
117581	TWIST2	HP:0008509	Aged leonine appearance	-	OMIM:227260
117581	TWIST2	HP:0100678	Premature skin wrinkling	4/12	OMIM:209885
117581	TWIST2	HP:0100678	Premature skin wrinkling	5/10	OMIM:200110
117581	TWIST2	HP:0010751	Dimple chin	HP:0040281	ORPHA:1807
117581	TWIST2	HP:0004209	Clinodactyly of the 5th finger	1/10	OMIM:200110
117581	TWIST2	HP:0004209	Clinodactyly of the 5th finger	1/12	OMIM:209885
117581	TWIST2	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:1807
117581	TWIST2	HP:0000629	Periorbital fullness	23/23	OMIM:227260
117581	TWIST2	HP:0010049	Short metacarpal	HP:0040283	OMIM:200110
117581	TWIST2	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:1231
117581	TWIST2	HP:0000684	Delayed eruption of teeth	1/12	OMIM:209885
117581	TWIST2	HP:0011336	Bitemporal forceps marks	23/23	OMIM:227260
117581	TWIST2	HP:0000691	Microdontia	HP:0040282	ORPHA:920
117581	TWIST2	HP:0000689	Dental malocclusion	1/12	OMIM:209885
117581	TWIST2	HP:0000687	Widely spaced teeth	1/12	OMIM:209885
117581	TWIST2	HP:0000656	Ectropion	11/12	OMIM:209885
117581	TWIST2	HP:0000656	Ectropion	HP:0040281	ORPHA:1231
117581	TWIST2	HP:0000653	Sparse eyelashes	1/12	OMIM:209885
117581	TWIST2	HP:0000668	Hypodontia	1/12	OMIM:209885
117581	TWIST2	HP:0004334	Dermal atrophy	-	OMIM:209885
117581	TWIST2	HP:0400002	Extra concha fold	2/12	OMIM:209885
117581	TWIST2	HP:0000750	Delayed speech and language development	1/12	OMIM:209885
117581	TWIST2	HP:0000750	Delayed speech and language development	2/10	OMIM:200110
117581	TWIST2	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:920
117581	TWIST2	HP:0011461	Fetal onset	1/10	OMIM:200110
117581	TWIST2	HP:0009125	Lipodystrophy	2/12	OMIM:209885
117581	TWIST2	HP:0034260	Aplastic zygomatic arch	2/10	OMIM:200110
117581	TWIST2	HP:0034262	Absent lanugo	6/10	OMIM:200110
117581	TWIST2	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:920
117581	TWIST2	HP:0003186	Inverted nipples	1/12	OMIM:209885
117581	TWIST2	HP:0045075	Sparse eyebrow	1/12	OMIM:209885
117581	TWIST2	HP:0000998	Hypertrichosis	12/12	OMIM:209885
117581	TWIST2	HP:0000974	Hyperextensible skin	HP:0040282	ORPHA:1231
117581	TWIST2	HP:0000958	Dry skin	HP:0040282	ORPHA:920
117581	TWIST2	HP:0000958	Dry skin	-	OMIM:200110
117581	TWIST2	HP:0000958	Dry skin	3/12	OMIM:209885
117581	TWIST2	HP:0000963	Thin skin	6/10	OMIM:200110
117581	TWIST2	HP:0000963	Thin skin	HP:0040282	ORPHA:920
117581	TWIST2	HP:0008070	Sparse hair	HP:0040281	ORPHA:920
117581	TWIST2	HP:0008070	Sparse hair	HP:0040281	ORPHA:1807
117581	TWIST2	HP:0008070	Sparse hair	-	OMIM:227260
117581	TWIST2	HP:0008070	Sparse hair	9/10	OMIM:200110
117581	TWIST2	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:1807
117581	TWIST2	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:1231
117581	TWIST2	HP:0000286	Epicanthus	HP:0040282	ORPHA:1807
117581	TWIST2	HP:0000286	Epicanthus	8/13	OMIM:227260
117581	TWIST2	HP:0000294	Low anterior hairline	16/19	OMIM:227260
117581	TWIST2	HP:0000294	Low anterior hairline	4/12	OMIM:209885
117581	TWIST2	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:1231
117581	TWIST2	HP:0007776	Sparse lower eyelashes	HP:0040282	ORPHA:1807
117581	TWIST2	HP:0005105	Abnormal nasal morphology	-	OMIM:200110
117581	TWIST2	HP:0001582	Redundant skin	8/12	OMIM:209885
117581	TWIST2	HP:0001582	Redundant skin	4/10	OMIM:200110
117581	TWIST2	HP:0001582	Redundant skin	HP:0040281	ORPHA:1231
117581	TWIST2	HP:0001582	Redundant skin	HP:0040281	ORPHA:920
117581	TWIST2	HP:0001582	Redundant skin	HP:0040281	ORPHA:1807
117581	TWIST2	HP:0000220	Velopharyngeal insufficiency	1/12	OMIM:209885
117581	TWIST2	HP:0000218	High palate	1/12	OMIM:209885
117581	TWIST2	HP:0000212	Gingival overgrowth	1/12	OMIM:209885
117581	TWIST2	HP:0000215	Thick upper lip vermilion	21/23	OMIM:227260
117581	TWIST2	HP:0001545	Anteriorly placed anus	3/10	OMIM:200110
117581	TWIST2	HP:0000233	Thin vermilion border	2/12	OMIM:209885
117581	TWIST2	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:920
117581	TWIST2	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:920
117581	TWIST2	HP:0001539	Omphalocele	3/10	OMIM:200110
117581	TWIST2	HP:0001539	Omphalocele	HP:0040283	ORPHA:920
117581	TWIST2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:1231
117581	TWIST2	HP:0001510	Growth delay	HP:0040283	ORPHA:920
117581	TWIST2	HP:0012385	Camptodactyly	4/10	OMIM:200110
117581	TWIST2	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:1231
117581	TWIST2	HP:0002933	Ventral hernia	-	OMIM:200110
117581	TWIST2	HP:0000365	Hearing impairment	HP:0040281	ORPHA:1231
117581	TWIST2	HP:0000365	Hearing impairment	1/12	OMIM:209885
117581	TWIST2	HP:0000365	Hearing impairment	3/10	OMIM:200110
117581	TWIST2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:920
117581	TWIST2	HP:0000369	Low-set ears	2/12	OMIM:209885
117581	TWIST2	HP:0000369	Low-set ears	4/10	OMIM:200110
117581	TWIST2	HP:0000347	Micrognathia	2/12	OMIM:209885
117581	TWIST2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:1231
117581	TWIST2	HP:0000316	Hypertelorism	4/12	OMIM:209885
117581	TWIST2	HP:0000316	Hypertelorism	12/20	OMIM:200110
117581	TWIST2	HP:0000327	Hypoplasia of the maxilla	1/12	OMIM:209885
117581	TWIST2	HP:0000327	Hypoplasia of the maxilla	HP:0040282	ORPHA:920
117581	TWIST2	HP:0000322	Short philtrum	HP:0040282	ORPHA:1807
117581	TWIST2	HP:0000303	Mandibular prognathia	-	OMIM:209885
117581	TWIST2	HP:0007957	Corneal opacity	HP:0040282	ORPHA:920
117581	TWIST2	HP:0005338	Sparse lateral eyebrow	HP:0040282	ORPHA:1807
117581	TWIST2	HP:0000402	Stenosis of the external auditory canal	6/12	OMIM:209885
117581	TWIST2	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:920
117581	TWIST2	HP:0005280	Depressed nasal bridge	18/21	OMIM:227260
117581	TWIST2	HP:0000486	Strabismus	HP:0040283	ORPHA:1807
117581	TWIST2	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:1807
117581	TWIST2	HP:0000463	Anteverted nares	HP:0040282	ORPHA:920
117581	TWIST2	HP:0000463	Anteverted nares	HP:0040281	ORPHA:1231
117581	TWIST2	HP:0000463	Anteverted nares	1/12	OMIM:209885
117581	TWIST2	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:1807
117581	TWIST2	HP:0001770	Toe syndactyly	HP:0040283	OMIM:200110
117581	TWIST2	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:920
117581	TWIST2	HP:0000445	Wide nose	8/12	OMIM:209885
117581	TWIST2	HP:0000414	Bulbous nose	17/19	OMIM:227260
117581	TWIST2	HP:0000414	Bulbous nose	HP:0040281	ORPHA:1231
117581	TWIST2	HP:0000414	Bulbous nose	12/12	OMIM:209885
117581	TWIST2	HP:0000413	Atresia of the external auditory canal	HP:0040283	ORPHA:1231
117581	TWIST2	HP:0000413	Atresia of the external auditory canal	HP:0040283	ORPHA:920
117581	TWIST2	HP:0001762	Talipes equinovarus	HP:0040283	OMIM:200110
117581	TWIST2	HP:0001762	Talipes equinovarus	1/12	OMIM:209885
117581	TWIST2	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:1807
117581	TWIST2	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1231
117581	TWIST2	HP:0000430	Underdeveloped nasal alae	1/12	OMIM:209885
117581	TWIST2	HP:0000430	Underdeveloped nasal alae	HP:0040281	ORPHA:920
117581	TWIST2	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040282	ORPHA:920
117581	TWIST2	HP:0011298	Prominent digit pad	1/12	OMIM:209885
117581	TWIST2	HP:0011267	Microtia, third degree	-	OMIM:200110
117581	TWIST2	HP:0000506	Telecanthus	HP:0040281	ORPHA:1231
117581	TWIST2	HP:0000506	Telecanthus	3/12	OMIM:209885
117581	TWIST2	HP:0000505	Visual impairment	HP:0040282	ORPHA:920
117581	TWIST2	HP:0001804	Hypoplastic fingernail	1/10	OMIM:200110
117581	TWIST2	HP:0011266	Microtia, first degree	8/12	OMIM:209885
117581	TWIST2	HP:0011266	Microtia, first degree	10/10	OMIM:200110
117581	TWIST2	HP:0011225	Epiblepharon	2/12	OMIM:209885
117581	TWIST2	HP:0011224	Ablepharon	HP:0040283	ORPHA:1231
117581	TWIST2	HP:0011224	Ablepharon	6/10	OMIM:200110
117581	TWIST2	HP:0011224	Ablepharon	HP:0040281	ORPHA:920
117581	TWIST2	HP:0000561	Absent eyelashes	HP:0040281	ORPHA:920
117581	TWIST2	HP:0000561	Absent eyelashes	2/10	OMIM:200110
117581	TWIST2	HP:0000545	Myopia	HP:0040282	ORPHA:920
118429	ANTXR2	HP:0001156	Brachydactyly	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
118429	ANTXR2	HP:0001293	Cranial nerve compression	-	OMIM:131300
118429	ANTXR2	HP:0001252	Hypotonia	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0001252	Hypotonia	2/7	OMIM:615777
118429	ANTXR2	HP:0001249	Intellectual disability	0/30	OMIM:228600
118429	ANTXR2	HP:0001249	Intellectual disability	5/7	OMIM:615777
118429	ANTXR2	HP:0001263	Global developmental delay	-	OMIM:615777
118429	ANTXR2	HP:0002570	Steatorrhea	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0002515	Waddling gait	54/102	OMIM:131300
118429	ANTXR2	HP:0001371	Flexion contracture	4/5	OMIM:228600
118429	ANTXR2	HP:0001387	Joint stiffness	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0001387	Joint stiffness	HP:0040283	ORPHA:2028
118429	ANTXR2	HP:0001382	Joint hypermobility	-	OMIM:615777
118429	ANTXR2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
118429	ANTXR2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
118429	ANTXR2	HP:0002659	Increased susceptibility to fractures	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
118429	ANTXR2	HP:0001324	Muscle weakness	40/96	OMIM:131300
118429	ANTXR2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
118429	ANTXR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:228600
118429	ANTXR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
118429	ANTXR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
118429	ANTXR2	HP:0002650	Scoliosis	12/14	OMIM:131300
118429	ANTXR2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
118429	ANTXR2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
118429	ANTXR2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
118429	ANTXR2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
118429	ANTXR2	HP:0000175	Cleft palate	2/7	OMIM:615777
118429	ANTXR2	HP:0000169	Gingival fibromatosis	1/2	OMIM:228600
118429	ANTXR2	HP:0000169	Gingival fibromatosis	HP:0040283	ORPHA:2028
118429	ANTXR2	HP:0002797	Osteolysis	-	OMIM:228600
118429	ANTXR2	HP:0002797	Osteolysis	HP:0040283	ORPHA:2028
118429	ANTXR2	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0001482	Subcutaneous nodule	34/35	OMIM:228600
118429	ANTXR2	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:2028
118429	ANTXR2	HP:0000147	Polycystic ovaries	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0002749	Osteomalacia	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0002719	Recurrent infections	17/35	OMIM:228600
118429	ANTXR2	HP:0002718	Recurrent bacterial infections	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0002024	Malabsorption	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0002028	Chronic diarrhea	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0002014	Diarrhea	16/29	OMIM:228600
118429	ANTXR2	HP:0003388	Easy fatigability	36/76	OMIM:131300
118429	ANTXR2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
118429	ANTXR2	HP:0100585	Telangiectasia of the skin	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0010515	Aplasia/Hypoplasia of the thymus	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0003593	Infantile onset	22/30	OMIM:228600
118429	ANTXR2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0003510	Severe short stature	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0003510	Severe short stature	7/7	OMIM:615777
118429	ANTXR2	HP:0003676	Progressive	-	OMIM:228600
118429	ANTXR2	HP:0001004	Lymphedema	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0001025	Urticaria	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0002315	Headache	-	OMIM:131300
118429	ANTXR2	HP:0004976	Knee dislocation	6/7	OMIM:615777
118429	ANTXR2	HP:0200034	Papule	HP:0040281	ORPHA:2028
118429	ANTXR2	HP:0001072	Thickened skin	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0001072	Thickened skin	3/5	OMIM:228600
118429	ANTXR2	HP:0009803	Short phalanx of finger	-	OMIM:615777
118429	ANTXR2	HP:0200042	Skin ulcer	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0200042	Skin ulcer	HP:0040282	ORPHA:2028
118429	ANTXR2	HP:0009763	Limb pain	63/92	OMIM:131300
118429	ANTXR2	HP:0003621	Juvenile onset	-	OMIM:131300
118429	ANTXR2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
118429	ANTXR2	HP:0004279	Short palm	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
118429	ANTXR2	HP:6001056	Out-toeing	-	OMIM:131300
118429	ANTXR2	HP:0000651	Diplopia	-	OMIM:131300
118429	ANTXR2	HP:0001956	Truncal obesity	2/7	OMIM:615777
118429	ANTXR2	HP:0001903	Anemia	HP:0040283	OMIM:131300
118429	ANTXR2	HP:0010049	Short metacarpal	-	OMIM:615777
118429	ANTXR2	HP:0000678	Dental crowding	-	OMIM:615777
118429	ANTXR2	HP:0000670	Carious teeth	-	OMIM:131300
118429	ANTXR2	HP:0011304	Broad thumb	2/7	OMIM:615777
118429	ANTXR2	HP:0000668	Hypodontia	-	OMIM:615777
118429	ANTXR2	HP:0000664	Synophrys	-	OMIM:615777
118429	ANTXR2	HP:0004396	Poor appetite	-	OMIM:131300
118429	ANTXR2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
118429	ANTXR2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
118429	ANTXR2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
118429	ANTXR2	HP:0003011	Abnormality of the musculature	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0003026	Short long bone	7/7	OMIM:615777
118429	ANTXR2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
118429	ANTXR2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
118429	ANTXR2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
118429	ANTXR2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
118429	ANTXR2	HP:0000750	Delayed speech and language development	-	OMIM:615777
118429	ANTXR2	HP:0011463	Childhood onset	8/30	OMIM:228600
118429	ANTXR2	HP:0011461	Fetal onset	7/7	OMIM:615777
118429	ANTXR2	HP:0000774	Narrow chest	2/7	OMIM:615777
118429	ANTXR2	HP:0000929	Abnormal skull morphology	HP:0040281	ORPHA:2028
118429	ANTXR2	HP:0000926	Platyspondyly	1/7	OMIM:615777
118429	ANTXR2	HP:0003180	Flat acetabular roof	-	OMIM:615777
118429	ANTXR2	HP:0004482	Relative macrocephaly	-	OMIM:615777
118429	ANTXR2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
118429	ANTXR2	HP:0000834	Abnormality of the adrenal glands	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0000823	Delayed puberty	-	OMIM:131300
118429	ANTXR2	HP:0000894	Short clavicles	-	OMIM:615777
118429	ANTXR2	HP:0005876	Progressive flexion contractures	HP:0040283	ORPHA:2028
118429	ANTXR2	HP:0005876	Progressive flexion contractures	-	OMIM:228600
118429	ANTXR2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
118429	ANTXR2	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:2028
118429	ANTXR2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
118429	ANTXR2	HP:0000953	Hyperpigmentation of the skin	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0000939	Osteoporosis	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0000939	Osteoporosis	4/4	OMIM:228600
118429	ANTXR2	HP:0000938	Osteopenia	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0000938	Osteopenia	4/4	OMIM:228600
118429	ANTXR2	HP:0000940	Abnormal diaphysis morphology	HP:0040281	ORPHA:2028
118429	ANTXR2	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:2028
118429	ANTXR2	HP:0000286	Epicanthus	1/7	OMIM:615777
118429	ANTXR2	HP:0000280	Coarse facial features	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0000280	Coarse facial features	2/7	OMIM:615777
118429	ANTXR2	HP:0000280	Coarse facial features	4/5	OMIM:228600
118429	ANTXR2	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:2028
118429	ANTXR2	HP:0000256	Macrocephaly	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0000275	Narrow face	3/5	OMIM:228600
118429	ANTXR2	HP:0000271	Abnormality of the face	HP:0040281	ORPHA:2028
118429	ANTXR2	HP:0002829	Arthralgia	4/5	OMIM:228600
118429	ANTXR2	HP:0002827	Hip dislocation	3/7	OMIM:615777
118429	ANTXR2	HP:0000252	Microcephaly	-	OMIM:615777
118429	ANTXR2	HP:0000212	Gingival overgrowth	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:2028
118429	ANTXR2	HP:0000212	Gingival overgrowth	33/35	OMIM:228600
118429	ANTXR2	HP:0002857	Genu valgum	-	OMIM:131300
118429	ANTXR2	HP:0001522	Death in infancy	HP:0040282	ORPHA:2028
118429	ANTXR2	HP:0001533	Slender build	-	OMIM:131300
118429	ANTXR2	HP:0001508	Failure to thrive	19/35	OMIM:228600
118429	ANTXR2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
118429	ANTXR2	HP:0001510	Growth delay	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0007807	Optic nerve compression	-	OMIM:131300
118429	ANTXR2	HP:0012368	Flat face	7/7	OMIM:615777
118429	ANTXR2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
118429	ANTXR2	HP:0006482	Abnormal dental morphology	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0000365	Hearing impairment	10/67	OMIM:131300
118429	ANTXR2	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:2028
118429	ANTXR2	HP:0000369	Low-set ears	3/5	OMIM:228600
118429	ANTXR2	HP:0000343	Long philtrum	1/7	OMIM:615777
118429	ANTXR2	HP:0011001	Increased bone mineral density	-	OMIM:131300
118429	ANTXR2	HP:0002983	Micromelia	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0000311	Round face	2/7	OMIM:615777
118429	ANTXR2	HP:0002970	Genu varum	-	OMIM:615777
118429	ANTXR2	HP:0000303	Mandibular prognathia	-	OMIM:131300
118429	ANTXR2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
118429	ANTXR2	HP:0000470	Short neck	HP:0040281	ORPHA:2176
118429	ANTXR2	HP:0000470	Short neck	1/7	OMIM:615777
118429	ANTXR2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
118429	ANTXR2	HP:0001763	Pes planus	1/7	OMIM:615777
118429	ANTXR2	HP:0001840	Metatarsus adductus	-	OMIM:615777
118429	ANTXR2	HP:0000520	Proptosis	2/4	OMIM:131300
118429	ANTXR2	HP:0000520	Proptosis	7/7	OMIM:615777
118429	ANTXR2	HP:0000592	Blue sclerae	2/7	OMIM:615777
118429	ANTXR2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
118429	ANTXR2	HP:0012514	Lower limb pain	4/4	OMIM:131300
118491	CFAP70	HP:0000007	Autosomal recessive inheritance	-	OMIM:618670
118491	CFAP70	HP:0032559	Short sperm flagella	1/1	OMIM:618670
118491	CFAP70	HP:0032562	Tapered sperm head	1/1	OMIM:618670
118491	CFAP70	HP:0000798	Oligozoospermia	1/1	OMIM:618670
118491	CFAP70	HP:0003251	Male infertility	1/1	OMIM:618670
118491	CFAP70	HP:0012208	Immotile sperm	1/1	OMIM:618670
118856	MMP21	HP:0002566	Intestinal malrotation	-	OMIM:616749
118856	MMP21	HP:0012020	Right aortic arch	1/14	OMIM:616749
118856	MMP21	HP:0000007	Autosomal recessive inheritance	-	OMIM:616749
118856	MMP21	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
118856	MMP21	HP:0004762	Hypoplasia of right ventricle	-	OMIM:616749
118856	MMP21	HP:0004971	Pulmonary artery hypoplasia	2/14	OMIM:616749
118856	MMP21	HP:0004935	Pulmonary artery atresia	-	OMIM:616749
118856	MMP21	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
118856	MMP21	HP:0004467	Preauricular pit	-	OMIM:187500
118856	MMP21	HP:0011565	Common atrium	-	OMIM:616749
118856	MMP21	HP:0011560	Mitral atresia	1/14	OMIM:616749
118856	MMP21	HP:0030853	Heterotaxy	-	OMIM:616749
118856	MMP21	HP:0011611	Interrupted aortic arch	-	OMIM:616749
118856	MMP21	HP:0000961	Cyanosis	-	OMIM:616749
118856	MMP21	HP:0011671	Interrupted inferior vena cava with azygous continuation	-	OMIM:616749
118856	MMP21	HP:0005160	Total anomalous pulmonary venous return	-	OMIM:616749
118856	MMP21	HP:0001696	Situs inversus totalis	-	OMIM:616749
118856	MMP21	HP:0001671	Abnormal cardiac septum morphology	-	OMIM:616749
118856	MMP21	HP:0001669	Transposition of the great arteries	4/14	OMIM:616749
118856	MMP21	HP:0000337	Broad forehead	-	OMIM:187500
118856	MMP21	HP:0001651	Dextrocardia	4/14	OMIM:616749
118856	MMP21	HP:0001646	Abnormal aortic valve morphology	1/14	OMIM:616749
118856	MMP21	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
118856	MMP21	HP:0001631	Atrial septal defect	-	OMIM:616749
118856	MMP21	HP:0006695	Atrioventricular canal defect	-	OMIM:616749
118856	MMP21	HP:0001702	Abnormal tricuspid valve morphology	1/14	OMIM:616749
118856	MMP21	HP:0001748	Polysplenia	-	OMIM:616749
118856	MMP21	HP:0000520	Proptosis	-	OMIM:187500
118924	FRA10AC1	HP:0001274	Agenesis of corpus callosum	1/5	OMIM:620113
118924	FRA10AC1	HP:0001270	Motor delay	3/5	OMIM:620113
118924	FRA10AC1	HP:0001250	Seizure	1/5	OMIM:620113
118924	FRA10AC1	HP:0001252	Hypotonia	5/5	OMIM:620113
118924	FRA10AC1	HP:0001249	Intellectual disability	5/5	OMIM:620113
118924	FRA10AC1	HP:0007413	Nevus flammeus of the forehead	1/5	OMIM:620113
118924	FRA10AC1	HP:0008897	Postnatal growth retardation	5/5	OMIM:620113
118924	FRA10AC1	HP:0001344	Absent speech	2/5	OMIM:620113
118924	FRA10AC1	HP:0001338	Partial agenesis of the corpus callosum	1/5	OMIM:620113
118924	FRA10AC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620113
118924	FRA10AC1	HP:0002079	Hypoplasia of the corpus callosum	3/5	OMIM:620113
118924	FRA10AC1	HP:0009487	Ulnar deviation of the hand	1/5	OMIM:620113
118924	FRA10AC1	HP:0009623	Proximal placement of thumb	1/5	OMIM:620113
118924	FRA10AC1	HP:0011918	Clinodactyly of the 4th toe	3/5	OMIM:620113
118924	FRA10AC1	HP:0011968	Feeding difficulties	2/5	OMIM:620113
118924	FRA10AC1	HP:0002360	Sleep abnormality	2/5	OMIM:620113
118924	FRA10AC1	HP:0010747	Medial flaring of the eyebrow	3/5	OMIM:620113
118924	FRA10AC1	HP:0004935	Pulmonary artery atresia	1/5	OMIM:620113
118924	FRA10AC1	HP:0004209	Clinodactyly of the 5th finger	2/5	OMIM:620113
118924	FRA10AC1	HP:0000664	Synophrys	2/5	OMIM:620113
118924	FRA10AC1	HP:0004322	Short stature	5/5	OMIM:620113
118924	FRA10AC1	HP:0000750	Delayed speech and language development	5/5	OMIM:620113
118924	FRA10AC1	HP:0000729	Autistic behavior	1/5	OMIM:620113
118924	FRA10AC1	HP:0003189	Long nose	2/5	OMIM:620113
118924	FRA10AC1	HP:0000879	Short sternum	1/5	OMIM:620113
118924	FRA10AC1	HP:0000998	Hypertrichosis	1/5	OMIM:620113
118924	FRA10AC1	HP:0045025	Narrow palpebral fissure	5/5	OMIM:620113
118924	FRA10AC1	HP:0000278	Retrognathia	1/5	OMIM:620113
118924	FRA10AC1	HP:0000276	Long face	4/5	OMIM:620113
118924	FRA10AC1	HP:0000218	High palate	2/5	OMIM:620113
118924	FRA10AC1	HP:0001562	Oligohydramnios	1/5	OMIM:620113
118924	FRA10AC1	HP:0030048	Colpocephaly	1/5	OMIM:620113
118924	FRA10AC1	HP:0001511	Intrauterine growth retardation	2/5	OMIM:620113
118924	FRA10AC1	HP:0000358	Posteriorly rotated ears	1/5	OMIM:620113
118924	FRA10AC1	HP:0000369	Low-set ears	2/5	OMIM:620113
118924	FRA10AC1	HP:0000341	Narrow forehead	2/5	OMIM:620113
118924	FRA10AC1	HP:0000348	High forehead	1/5	OMIM:620113
118924	FRA10AC1	HP:0000319	Smooth philtrum	1/5	OMIM:620113
118924	FRA10AC1	HP:0000316	Hypertelorism	1/5	OMIM:620113
118924	FRA10AC1	HP:0001643	Patent ductus arteriosus	1/5	OMIM:620113
118924	FRA10AC1	HP:0000325	Triangular face	2/5	OMIM:620113
118924	FRA10AC1	HP:0001655	Patent foramen ovale	1/5	OMIM:620113
118924	FRA10AC1	HP:0001629	Ventricular septal defect	1/5	OMIM:620113
118924	FRA10AC1	HP:0000307	Pointed chin	3/5	OMIM:620113
118924	FRA10AC1	HP:0012471	Thick vermilion border	2/5	OMIM:620113
118924	FRA10AC1	HP:0000414	Bulbous nose	2/5	OMIM:620113
118924	FRA10AC1	HP:0005484	Secondary microcephaly	4/5	OMIM:620113
118924	FRA10AC1	HP:0011229	Broad eyebrow	1/5	OMIM:620113
118924	FRA10AC1	HP:0001864	Clinodactyly of the 5th toe	3/5	OMIM:620113
118987	PDZD8	HP:0001250	Seizure	2/4	OMIM:620021
118987	PDZD8	HP:0001249	Intellectual disability	4/4	OMIM:620021
118987	PDZD8	HP:0001263	Global developmental delay	4/4	OMIM:620021
118987	PDZD8	HP:0000007	Autosomal recessive inheritance	-	OMIM:620021
118987	PDZD8	HP:0002650	Scoliosis	1/4	OMIM:620021
118987	PDZD8	HP:0000194	Open mouth	3/4	OMIM:620021
118987	PDZD8	HP:0001488	Bilateral ptosis	1/4	OMIM:620021
118987	PDZD8	HP:0000175	Cleft palate	1/4	OMIM:620021
118987	PDZD8	HP:0010529	Echolalia	1/4	OMIM:620021
118987	PDZD8	HP:0003593	Infantile onset	-	OMIM:620021
118987	PDZD8	HP:0007018	Attention deficit hyperactivity disorder	2/4	OMIM:620021
118987	PDZD8	HP:0000646	Amblyopia	1/4	OMIM:620021
118987	PDZD8	HP:0100023	Recurrent hand flapping	1/4	OMIM:620021
118987	PDZD8	HP:0000729	Autistic behavior	4/4	OMIM:620021
118987	PDZD8	HP:0000722	Compulsive behaviors	1/4	OMIM:620021
118987	PDZD8	HP:0000272	Malar flattening	3/4	OMIM:620021
118987	PDZD8	HP:0000218	High palate	3/4	OMIM:620021
118987	PDZD8	HP:0000369	Low-set ears	1/4	OMIM:620021
118987	PDZD8	HP:0000316	Hypertelorism	4/4	OMIM:620021
118987	PDZD8	HP:0000483	Astigmatism	1/4	OMIM:620021
118987	PDZD8	HP:0001845	Overlapping toe	1/4	OMIM:620021
118987	PDZD8	HP:0000545	Myopia	2/4	OMIM:620021
119559	SFXN4	HP:0010862	Delayed fine motor development	1/2	OMIM:615578
119559	SFXN4	HP:0001256	Intellectual disability, mild	1/2	OMIM:615578
119559	SFXN4	HP:0001252	Hypotonia	2/2	OMIM:615578
119559	SFXN4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615578
119559	SFXN4	HP:0001337	Tremor	1/2	OMIM:615578
119559	SFXN4	HP:0001310	Dysmetria	1/2	OMIM:615578
119559	SFXN4	HP:0012120	Methylmalonic aciduria	1/2	OMIM:615578
119559	SFXN4	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:615578
119559	SFXN4	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:615578
119559	SFXN4	HP:0003577	Congenital onset	2/2	OMIM:615578
119559	SFXN4	HP:0004821	Hypersegmentation of neutrophil nuclei	1/2	OMIM:615578
119559	SFXN4	HP:0001972	Macrocytic anemia	1/2	OMIM:615578
119559	SFXN4	HP:0009046	Difficulty running	1/2	OMIM:615578
119559	SFXN4	HP:0000750	Delayed speech and language development	2/2	OMIM:615578
119559	SFXN4	HP:0003128	Lactic acidosis	2/2	OMIM:615578
119559	SFXN4	HP:0040014	Increased mitochondrial number	1/2	OMIM:615578
119559	SFXN4	HP:0003202	Skeletal muscle atrophy	1/2	OMIM:615578
119559	SFXN4	HP:0001562	Oligohydramnios	1/2	OMIM:615578
119559	SFXN4	HP:0001511	Intrauterine growth retardation	2/2	OMIM:615578
119559	SFXN4	HP:0000505	Visual impairment	2/2	OMIM:615578
120227	CYP2R1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
120227	CYP2R1	HP:0001293	Cranial nerve compression	-	OMIM:131300
120227	CYP2R1	HP:0001290	Generalized hypotonia	-	OMIM:600081
120227	CYP2R1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:289157
120227	CYP2R1	HP:0001270	Motor delay	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0001288	Gait disturbance	-	OMIM:600081
120227	CYP2R1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:289157
120227	CYP2R1	HP:0001281	Tetany	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0001252	Hypotonia	-	OMIM:600081
120227	CYP2R1	HP:0001252	Hypotonia	2/7	OMIM:615777
120227	CYP2R1	HP:0001249	Intellectual disability	5/7	OMIM:615777
120227	CYP2R1	HP:0001263	Global developmental delay	-	OMIM:615777
120227	CYP2R1	HP:0002515	Waddling gait	54/102	OMIM:131300
120227	CYP2R1	HP:0012052	Low serum calcitriol	HP:0040280	ORPHA:289157
120227	CYP2R1	HP:0012053	Decreased circulating calcifediol concentration	1/1	OMIM:600081
120227	CYP2R1	HP:0001382	Joint hypermobility	-	OMIM:615777
120227	CYP2R1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
120227	CYP2R1	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
120227	CYP2R1	HP:0002663	Delayed epiphyseal ossification	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0002663	Delayed epiphyseal ossification	-	OMIM:600081
120227	CYP2R1	HP:0002659	Increased susceptibility to fractures	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
120227	CYP2R1	HP:0001324	Muscle weakness	-	OMIM:600081
120227	CYP2R1	HP:0001324	Muscle weakness	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0001324	Muscle weakness	40/96	OMIM:131300
120227	CYP2R1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
120227	CYP2R1	HP:0000007	Autosomal recessive inheritance	-	OMIM:600081
120227	CYP2R1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
120227	CYP2R1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
120227	CYP2R1	HP:0002653	Bone pain	-	OMIM:600081
120227	CYP2R1	HP:0002653	Bone pain	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0002650	Scoliosis	12/14	OMIM:131300
120227	CYP2R1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
120227	CYP2R1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
120227	CYP2R1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
120227	CYP2R1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
120227	CYP2R1	HP:0000175	Cleft palate	2/7	OMIM:615777
120227	CYP2R1	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:289157
120227	CYP2R1	HP:0002757	Recurrent fractures	-	OMIM:600081
120227	CYP2R1	HP:0002753	Thin bony cortex	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0002753	Thin bony cortex	-	OMIM:600081
120227	CYP2R1	HP:0002752	Sparse bone trabeculae	-	OMIM:600081
120227	CYP2R1	HP:0002752	Sparse bone trabeculae	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0002748	Rickets	HP:0040280	ORPHA:289157
120227	CYP2R1	HP:0002748	Rickets	-	OMIM:600081
120227	CYP2R1	HP:0002749	Osteomalacia	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0002007	Frontal bossing	-	OMIM:600081
120227	CYP2R1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:289157
120227	CYP2R1	HP:0003388	Easy fatigability	36/76	OMIM:131300
120227	CYP2R1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
120227	CYP2R1	HP:0002148	Hypophosphatemia	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0002148	Hypophosphatemia	1/1	OMIM:600081
120227	CYP2R1	HP:0002199	Hypocalcemic seizures	HP:0040283	ORPHA:289157
120227	CYP2R1	HP:0010537	Wide cranial sutures	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0010502	Fibular bowing	-	OMIM:600081
120227	CYP2R1	HP:0003593	Infantile onset	-	OMIM:600081
120227	CYP2R1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:289157
120227	CYP2R1	HP:0010639	Elevated alkaline phosphatase of bone origin	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0003510	Severe short stature	7/7	OMIM:615777
120227	CYP2R1	HP:0003698	Difficulty standing	-	OMIM:600081
120227	CYP2R1	HP:0002315	Headache	-	OMIM:131300
120227	CYP2R1	HP:0004976	Knee dislocation	6/7	OMIM:615777
120227	CYP2R1	HP:0009803	Short phalanx of finger	-	OMIM:615777
120227	CYP2R1	HP:0009763	Limb pain	63/92	OMIM:131300
120227	CYP2R1	HP:0003621	Juvenile onset	-	OMIM:131300
120227	CYP2R1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
120227	CYP2R1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
120227	CYP2R1	HP:6001056	Out-toeing	-	OMIM:131300
120227	CYP2R1	HP:0000651	Diplopia	-	OMIM:131300
120227	CYP2R1	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:289157
120227	CYP2R1	HP:0001956	Truncal obesity	2/7	OMIM:615777
120227	CYP2R1	HP:0001931	Hypochromic anemia	HP:0040282	ORPHA:289157
120227	CYP2R1	HP:0001903	Anemia	HP:0040283	OMIM:131300
120227	CYP2R1	HP:0010049	Short metacarpal	-	OMIM:615777
120227	CYP2R1	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:289157
120227	CYP2R1	HP:0000678	Dental crowding	-	OMIM:615777
120227	CYP2R1	HP:0000670	Carious teeth	-	OMIM:131300
120227	CYP2R1	HP:0011304	Broad thumb	2/7	OMIM:615777
120227	CYP2R1	HP:0000668	Hypodontia	-	OMIM:615777
120227	CYP2R1	HP:0000664	Synophrys	-	OMIM:615777
120227	CYP2R1	HP:0004322	Short stature	HP:0040282	ORPHA:289157
120227	CYP2R1	HP:0004396	Poor appetite	-	OMIM:131300
120227	CYP2R1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
120227	CYP2R1	HP:0003029	Enlargement of the ankles	-	OMIM:600081
120227	CYP2R1	HP:0003029	Enlargement of the ankles	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
120227	CYP2R1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
120227	CYP2R1	HP:0003013	Bulging epiphyses	-	OMIM:600081
120227	CYP2R1	HP:0003026	Short long bone	7/7	OMIM:615777
120227	CYP2R1	HP:0003025	Metaphyseal irregularity	-	OMIM:600081
120227	CYP2R1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
120227	CYP2R1	HP:0003020	Enlargement of the wrists	-	OMIM:600081
120227	CYP2R1	HP:0003020	Enlargement of the wrists	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
120227	CYP2R1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
120227	CYP2R1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
120227	CYP2R1	HP:0000737	Irritability	HP:0040283	ORPHA:289157
120227	CYP2R1	HP:0000750	Delayed speech and language development	-	OMIM:615777
120227	CYP2R1	HP:0011463	Childhood onset	1/1	OMIM:600081
120227	CYP2R1	HP:0011461	Fetal onset	7/7	OMIM:615777
120227	CYP2R1	HP:0000774	Narrow chest	2/7	OMIM:615777
120227	CYP2R1	HP:0003106	Subperiosteal bone resorption	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0000926	Platyspondyly	1/7	OMIM:615777
120227	CYP2R1	HP:0000920	Enlargement of the costochondral junction	-	OMIM:600081
120227	CYP2R1	HP:0000920	Enlargement of the costochondral junction	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0003180	Flat acetabular roof	-	OMIM:615777
120227	CYP2R1	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:600081
120227	CYP2R1	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:289157
120227	CYP2R1	HP:0004482	Relative macrocephaly	-	OMIM:615777
120227	CYP2R1	HP:0003165	Elevated circulating parathyroid hormone level	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0004492	Widely patent fontanelles and sutures	-	OMIM:600081
120227	CYP2R1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
120227	CYP2R1	HP:0000893	Bulging of the costochondral junction	-	OMIM:600081
120227	CYP2R1	HP:0000886	Deformed rib cage	-	OMIM:600081
120227	CYP2R1	HP:0000886	Deformed rib cage	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0000867	Secondary hyperparathyroidism	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0000823	Delayed puberty	-	OMIM:131300
120227	CYP2R1	HP:0000894	Short clavicles	-	OMIM:615777
120227	CYP2R1	HP:0000897	Rachitic rosary	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
120227	CYP2R1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
120227	CYP2R1	HP:0000286	Epicanthus	1/7	OMIM:615777
120227	CYP2R1	HP:0000280	Coarse facial features	2/7	OMIM:615777
120227	CYP2R1	HP:0002827	Hip dislocation	3/7	OMIM:615777
120227	CYP2R1	HP:0005042	Irregular, rachitic-like metaphyses	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0000252	Microcephaly	-	OMIM:615777
120227	CYP2R1	HP:0002857	Genu valgum	-	OMIM:131300
120227	CYP2R1	HP:0001538	Protuberant abdomen	HP:0040283	ORPHA:289157
120227	CYP2R1	HP:0001533	Slender build	-	OMIM:131300
120227	CYP2R1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0001508	Failure to thrive	-	OMIM:600081
120227	CYP2R1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
120227	CYP2R1	HP:0001510	Growth delay	-	OMIM:600081
120227	CYP2R1	HP:0007807	Optic nerve compression	-	OMIM:131300
120227	CYP2R1	HP:0012368	Flat face	7/7	OMIM:615777
120227	CYP2R1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
120227	CYP2R1	HP:0002909	Generalized aminoaciduria	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0002901	Hypocalcemia	1/1	OMIM:600081
120227	CYP2R1	HP:0002901	Hypocalcemia	HP:0040280	ORPHA:289157
120227	CYP2R1	HP:0000365	Hearing impairment	10/67	OMIM:131300
120227	CYP2R1	HP:0000343	Long philtrum	1/7	OMIM:615777
120227	CYP2R1	HP:0011001	Increased bone mineral density	-	OMIM:131300
120227	CYP2R1	HP:0002982	Tibial bowing	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0002982	Tibial bowing	-	OMIM:600081
120227	CYP2R1	HP:0002980	Femoral bowing	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0002980	Femoral bowing	-	OMIM:600081
120227	CYP2R1	HP:0002979	Bowing of the legs	-	OMIM:600081
120227	CYP2R1	HP:0000311	Round face	2/7	OMIM:615777
120227	CYP2R1	HP:0002970	Genu varum	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0002970	Genu varum	-	OMIM:615777
120227	CYP2R1	HP:0001638	Cardiomyopathy	HP:0040282	ORPHA:289157
120227	CYP2R1	HP:0000303	Mandibular prognathia	-	OMIM:131300
120227	CYP2R1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
120227	CYP2R1	HP:0000470	Short neck	1/7	OMIM:615777
120227	CYP2R1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
120227	CYP2R1	HP:0001763	Pes planus	1/7	OMIM:615777
120227	CYP2R1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:289157
120227	CYP2R1	HP:0005469	Flat occiput	HP:0040281	ORPHA:289157
120227	CYP2R1	HP:0005469	Flat occiput	-	OMIM:600081
120227	CYP2R1	HP:0001840	Metatarsus adductus	-	OMIM:615777
120227	CYP2R1	HP:0000520	Proptosis	2/4	OMIM:131300
120227	CYP2R1	HP:0000520	Proptosis	7/7	OMIM:615777
120227	CYP2R1	HP:0000592	Blue sclerae	2/7	OMIM:615777
120227	CYP2R1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
120227	CYP2R1	HP:0012514	Lower limb pain	4/4	OMIM:131300
120892	LRRK2	HP:0025269	Panic attack	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0001268	Mental deterioration	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0002578	Gastroparesis	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0001257	Spasticity	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	-	OMIM:607060
120892	LRRK2	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	HP:0040282	ORPHA:411602
120892	LRRK2	HP:0003829	Typified by incomplete penetrance	-	OMIM:607060
120892	LRRK2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0001332	Dystonia	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0001332	Dystonia	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0001337	Tremor	HP:0040282	ORPHA:2828
120892	LRRK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:607060
120892	LRRK2	HP:0001300	Parkinsonism	HP:0040280	ORPHA:411602
120892	LRRK2	HP:0001300	Parkinsonism	-	OMIM:607060
120892	LRRK2	HP:0002018	Nausea	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0002019	Constipation	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0040307	Male sexual dysfunction	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0002014	Diarrhea	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0002015	Dysphagia	HP:0040282	ORPHA:411602
120892	LRRK2	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0002067	Bradykinesia	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0002067	Bradykinesia	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0002067	Bradykinesia	-	OMIM:607060
120892	LRRK2	HP:0003394	Muscle spasm	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0003394	Muscle spasm	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0002063	Rigidity	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0002063	Rigidity	HP:0040281	ORPHA:2828
120892	LRRK2	HP:0002063	Rigidity	-	OMIM:607060
120892	LRRK2	HP:0002141	Gait imbalance	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0002171	Gliosis	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0002172	Postural instability	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0002172	Postural instability	HP:0040282	ORPHA:2828
120892	LRRK2	HP:0002172	Postural instability	-	OMIM:607060
120892	LRRK2	HP:0003584	Late onset	-	OMIM:607060
120892	LRRK2	HP:0100710	Impulsivity	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0100710	Impulsivity	HP:0040284	ORPHA:2828
120892	LRRK2	HP:0100785	Insomnia	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0100753	Schizophrenia	HP:0040284	ORPHA:411602
120892	LRRK2	HP:0011960	Substantia nigra gliosis	-	OMIM:607060
120892	LRRK2	HP:0002367	Visual hallucination	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0002362	Shuffling gait	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0002359	Frequent falls	HP:0040282	ORPHA:411602
120892	LRRK2	HP:0003677	Slowly progressive	-	OMIM:607060
120892	LRRK2	HP:0002322	Resting tremor	-	OMIM:607060
120892	LRRK2	HP:0002322	Resting tremor	HP:0040282	ORPHA:411602
120892	LRRK2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0100660	Dyskinesia	HP:0040282	ORPHA:2828
120892	LRRK2	HP:0002304	Akinesia	HP:0040282	ORPHA:411602
120892	LRRK2	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0000651	Diplopia	HP:0040282	ORPHA:411602
120892	LRRK2	HP:0000651	Diplopia	HP:0040284	ORPHA:2828
120892	LRRK2	HP:0000738	Hallucinations	HP:0040282	ORPHA:2828
120892	LRRK2	HP:0000739	Anxiety	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0000736	Short attention span	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0000744	Low frustration tolerance	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0000741	Apathy	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0000741	Apathy	HP:0040282	ORPHA:2828
120892	LRRK2	HP:0000716	Depression	HP:0040282	ORPHA:2828
120892	LRRK2	HP:0000716	Depression	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0000713	Agitation	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0000713	Agitation	HP:0040284	ORPHA:2828
120892	LRRK2	HP:0000727	Frontal lobe dementia	HP:0040284	ORPHA:2828
120892	LRRK2	HP:0000726	Dementia	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0000726	Dementia	HP:0040284	ORPHA:411602
120892	LRRK2	HP:0000726	Dementia	-	OMIM:607060
120892	LRRK2	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0004409	Hyposmia	-	OMIM:607060
120892	LRRK2	HP:0004409	Hyposmia	HP:0040282	ORPHA:411602
120892	LRRK2	HP:0004409	Hyposmia	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0100315	Lewy bodies	-	OMIM:607060
120892	LRRK2	HP:0100315	Lewy bodies	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0030014	Female sexual dysfunction	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0031435	Monotonic speech	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0000338	Hypomimic face	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0005340	Spastic/hyperactive bladder	HP:0040282	ORPHA:411602
120892	LRRK2	HP:0012452	Restless legs	HP:0040283	ORPHA:2828
120892	LRRK2	HP:0012450	Chronic constipation	HP:0040282	ORPHA:411602
120892	LRRK2	HP:0001824	Weight loss	HP:0040283	ORPHA:411602
120892	LRRK2	HP:0000551	Color vision defect	HP:0040283	ORPHA:2828
121214	SDR9C7	HP:0025114	Hypergranulosis	1/1	OMIM:617574
121214	SDR9C7	HP:0100806	Sepsis	HP:0040283	ORPHA:313
121214	SDR9C7	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:313
121214	SDR9C7	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:313
121214	SDR9C7	HP:0000007	Autosomal recessive inheritance	-	OMIM:617574
121214	SDR9C7	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:313
121214	SDR9C7	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:313
121214	SDR9C7	HP:0003577	Congenital onset	-	OMIM:617574
121214	SDR9C7	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:313
121214	SDR9C7	HP:0100758	Gangrene	HP:0040283	ORPHA:313
121214	SDR9C7	HP:0001019	Erythroderma	HP:0040281	ORPHA:79394
121214	SDR9C7	HP:0001019	Erythroderma	HP:0040281	ORPHA:313
121214	SDR9C7	HP:0200020	Corneal erosion	HP:0040282	ORPHA:79394
121214	SDR9C7	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:313
121214	SDR9C7	HP:0001944	Dehydration	HP:0040283	ORPHA:313
121214	SDR9C7	HP:0000656	Ectropion	HP:0040281	ORPHA:79394
121214	SDR9C7	HP:0000656	Ectropion	HP:0040281	ORPHA:313
121214	SDR9C7	HP:0004322	Short stature	HP:0040283	ORPHA:313
121214	SDR9C7	HP:0004322	Short stature	HP:0040283	ORPHA:79394
121214	SDR9C7	HP:0000972	Palmoplantar hyperkeratosis	-	OMIM:617574
121214	SDR9C7	HP:0000989	Pruritus	HP:0040281	ORPHA:313
121214	SDR9C7	HP:0000989	Pruritus	HP:0040281	ORPHA:79394
121214	SDR9C7	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:79394
121214	SDR9C7	HP:0000958	Dry skin	HP:0040281	ORPHA:313
121214	SDR9C7	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:79394
121214	SDR9C7	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:313
121214	SDR9C7	HP:0000962	Hyperkeratosis	-	OMIM:617574
121214	SDR9C7	HP:0008070	Sparse hair	HP:0040281	ORPHA:313
121214	SDR9C7	HP:0008064	Ichthyosis	HP:0040281	ORPHA:313
121214	SDR9C7	HP:0008064	Ichthyosis	-	OMIM:617574
121214	SDR9C7	HP:0008064	Ichthyosis	HP:0040281	ORPHA:79394
121214	SDR9C7	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:79394
121214	SDR9C7	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:313
121214	SDR9C7	HP:0001596	Alopecia	HP:0040282	ORPHA:79394
121214	SDR9C7	HP:0012203	Onychomycosis	-	OMIM:617574
121214	SDR9C7	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:313
121214	SDR9C7	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79394
121214	SDR9C7	HP:0011039	Abnormal helix morphology	HP:0040282	ORPHA:313
121214	SDR9C7	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:313
121214	SDR9C7	HP:0000365	Hearing impairment	HP:0040282	ORPHA:79394
121214	SDR9C7	HP:0000491	Keratitis	HP:0040282	ORPHA:79394
121278	TPH2	HP:0001263	Global developmental delay	0/2	OMIM:613003
121278	TPH2	HP:0010982	Polygenic inheritance	-	OMIM:608516
121278	TPH2	HP:0000006	Autosomal dominant inheritance	-	OMIM:613003
121278	TPH2	HP:0007018	Attention deficit hyperactivity disorder	2/2	OMIM:613003
121278	TPH2	HP:0000716	Depression	-	OMIM:608516
121278	TPH2	HP:0000716	Depression	1/2	OMIM:613003
121340	SP7	HP:0001187	Hyperextensibility of the finger joints	1/1	OMIM:613849
121340	SP7	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
121340	SP7	HP:0001293	Cranial nerve compression	-	OMIM:131300
121340	SP7	HP:0001270	Motor delay	1/1	OMIM:613849
121340	SP7	HP:0001256	Intellectual disability, mild	-	OMIM:259770
121340	SP7	HP:0001252	Hypotonia	-	OMIM:259770
121340	SP7	HP:0001252	Hypotonia	2/7	OMIM:615777
121340	SP7	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1513
121340	SP7	HP:0001249	Intellectual disability	5/7	OMIM:615777
121340	SP7	HP:0001263	Global developmental delay	1/1	OMIM:612394
121340	SP7	HP:0001263	Global developmental delay	-	OMIM:615777
121340	SP7	HP:0002515	Waddling gait	54/102	OMIM:131300
121340	SP7	HP:0001382	Joint hypermobility	-	OMIM:259770
121340	SP7	HP:0001382	Joint hypermobility	-	OMIM:615777
121340	SP7	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
121340	SP7	HP:0002694	Sclerosis of skull base	-	OMIM:131300
121340	SP7	HP:0008897	Postnatal growth retardation	-	OMIM:615777
121340	SP7	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
121340	SP7	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
121340	SP7	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
121340	SP7	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
121340	SP7	HP:0001324	Muscle weakness	40/96	OMIM:131300
121340	SP7	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
121340	SP7	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
121340	SP7	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
121340	SP7	HP:0000007	Autosomal recessive inheritance	-	OMIM:613849
121340	SP7	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
121340	SP7	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
121340	SP7	HP:0002650	Scoliosis	1/5	OMIM:259770
121340	SP7	HP:0002650	Scoliosis	1/1	OMIM:612394
121340	SP7	HP:0002650	Scoliosis	1/1	OMIM:613849
121340	SP7	HP:0002650	Scoliosis	12/14	OMIM:131300
121340	SP7	HP:0002645	Wormian bones	1/1	OMIM:613849
121340	SP7	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
121340	SP7	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
121340	SP7	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
121340	SP7	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
121340	SP7	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
121340	SP7	HP:0000160	Narrow mouth	1/1	OMIM:613849
121340	SP7	HP:0000175	Cleft palate	2/7	OMIM:615777
121340	SP7	HP:0005019	Diaphyseal undertubulation	HP:0040281	ORPHA:1513
121340	SP7	HP:0002757	Recurrent fractures	4/5	OMIM:259770
121340	SP7	HP:0002757	Recurrent fractures	1/1	OMIM:613849
121340	SP7	HP:0002756	Pathologic fracture	-	OMIM:259770
121340	SP7	HP:0002756	Pathologic fracture	1/1	OMIM:612394
121340	SP7	HP:0002751	Kyphoscoliosis	-	OMIM:259770
121340	SP7	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
121340	SP7	HP:0002007	Frontal bossing	HP:0040281	ORPHA:1513
121340	SP7	HP:0011800	Midface retrusion	1/1	OMIM:613849
121340	SP7	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
121340	SP7	HP:0003388	Easy fatigability	36/76	OMIM:131300
121340	SP7	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
121340	SP7	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
121340	SP7	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
121340	SP7	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
121340	SP7	HP:0002164	Nail dysplasia	1/1	OMIM:612394
121340	SP7	HP:0010557	Overlapping fingers	1/2	OMIM:612394
121340	SP7	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
121340	SP7	HP:0003593	Infantile onset	1/5	OMIM:259770
121340	SP7	HP:0003593	Infantile onset	2/2	OMIM:613849
121340	SP7	HP:0003577	Congenital onset	4/5	OMIM:259770
121340	SP7	HP:0002208	Coarse hair	1/1	OMIM:612394
121340	SP7	HP:0003510	Severe short stature	7/7	OMIM:615777
121340	SP7	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
121340	SP7	HP:0025019	Arterial rupture	1/1	OMIM:612394
121340	SP7	HP:0002315	Headache	-	OMIM:131300
121340	SP7	HP:0004976	Knee dislocation	6/7	OMIM:615777
121340	SP7	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
121340	SP7	HP:0009803	Short phalanx of finger	-	OMIM:615777
121340	SP7	HP:0001089	Iris atrophy	-	OMIM:259770
121340	SP7	HP:0009763	Limb pain	63/92	OMIM:131300
121340	SP7	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
121340	SP7	HP:0003621	Juvenile onset	-	OMIM:131300
121340	SP7	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
121340	SP7	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
121340	SP7	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
121340	SP7	HP:6001056	Out-toeing	-	OMIM:131300
121340	SP7	HP:0000651	Diplopia	-	OMIM:131300
121340	SP7	HP:0000648	Optic atrophy	HP:0040283	ORPHA:1513
121340	SP7	HP:0000618	Blindness	5/5	OMIM:259770
121340	SP7	HP:0001956	Truncal obesity	2/7	OMIM:615777
121340	SP7	HP:0001903	Anemia	HP:0040283	OMIM:131300
121340	SP7	HP:0010049	Short metacarpal	-	OMIM:615777
121340	SP7	HP:0000684	Delayed eruption of teeth	1/1	OMIM:613849
121340	SP7	HP:0000678	Dental crowding	-	OMIM:615777
121340	SP7	HP:0000670	Carious teeth	-	OMIM:131300
121340	SP7	HP:0011304	Broad thumb	2/7	OMIM:615777
121340	SP7	HP:0000668	Hypodontia	-	OMIM:615777
121340	SP7	HP:0000667	Phthisis bulbi	-	OMIM:259770
121340	SP7	HP:0000664	Synophrys	-	OMIM:615777
121340	SP7	HP:0004322	Short stature	HP:0040281	ORPHA:1513
121340	SP7	HP:0004322	Short stature	1/1	OMIM:613849
121340	SP7	HP:0004322	Short stature	-	OMIM:259770
121340	SP7	HP:0005620	Hypermobility of interphalangeal joints	1/1	OMIM:613849
121340	SP7	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	OMIM:613849
121340	SP7	HP:0004396	Poor appetite	-	OMIM:131300
121340	SP7	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
121340	SP7	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
121340	SP7	HP:0003016	Metaphyseal widening	-	OMIM:259770
121340	SP7	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
121340	SP7	HP:0003026	Short long bone	7/7	OMIM:615777
121340	SP7	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
121340	SP7	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:1513
121340	SP7	HP:0000767	Pectus excavatum	2/7	OMIM:615777
121340	SP7	HP:0000768	Pectus carinatum	1/7	OMIM:615777
121340	SP7	HP:0000768	Pectus carinatum	1/1	OMIM:613849
121340	SP7	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
121340	SP7	HP:0000750	Delayed speech and language development	-	OMIM:615777
121340	SP7	HP:0000703	Dentinogenesis imperfecta	0/1	OMIM:613849
121340	SP7	HP:0011461	Fetal onset	7/7	OMIM:615777
121340	SP7	HP:0011461	Fetal onset	2/2	OMIM:612394
121340	SP7	HP:0000774	Narrow chest	2/7	OMIM:615777
121340	SP7	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
121340	SP7	HP:0003196	Short nose	1/1	OMIM:612394
121340	SP7	HP:0000926	Platyspondyly	-	OMIM:259770
121340	SP7	HP:0000926	Platyspondyly	1/7	OMIM:615777
121340	SP7	HP:0000926	Platyspondyly	1/1	OMIM:612394
121340	SP7	HP:0003180	Flat acetabular roof	-	OMIM:615777
121340	SP7	HP:0004482	Relative macrocephaly	-	OMIM:615777
121340	SP7	HP:0004493	Craniofacial hyperostosis	HP:0040281	ORPHA:1513
121340	SP7	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
121340	SP7	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
121340	SP7	HP:0000823	Delayed puberty	-	OMIM:131300
121340	SP7	HP:0000894	Short clavicles	-	OMIM:615777
121340	SP7	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
121340	SP7	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
121340	SP7	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
121340	SP7	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
121340	SP7	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
121340	SP7	HP:0000939	Osteoporosis	4/5	OMIM:259770
121340	SP7	HP:0000939	Osteoporosis	1/1	OMIM:613849
121340	SP7	HP:0000938	Osteopenia	1/5	OMIM:259770
121340	SP7	HP:0000938	Osteopenia	1/1	OMIM:612394
121340	SP7	HP:0040160	Generalized osteoporosis	1/1	OMIM:613849
121340	SP7	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
121340	SP7	HP:0000286	Epicanthus	1/7	OMIM:615777
121340	SP7	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1513
121340	SP7	HP:0000280	Coarse facial features	2/7	OMIM:615777
121340	SP7	HP:0000256	Macrocephaly	HP:0040281	ORPHA:1513
121340	SP7	HP:0000272	Malar flattening	1/1	OMIM:612394
121340	SP7	HP:0007773	Vitreoretinopathy	-	OMIM:259770
121340	SP7	HP:0002827	Hip dislocation	3/7	OMIM:615777
121340	SP7	HP:0002808	Kyphosis	1/5	OMIM:259770
121340	SP7	HP:0000244	Brachyturricephaly	-	OMIM:613849
121340	SP7	HP:0000252	Microcephaly	-	OMIM:259770
121340	SP7	HP:0000252	Microcephaly	-	OMIM:615777
121340	SP7	HP:0001552	Barrel-shaped chest	-	OMIM:259770
121340	SP7	HP:0000218	High palate	1/1	OMIM:613849
121340	SP7	HP:0002857	Genu valgum	-	OMIM:131300
121340	SP7	HP:0001533	Slender build	-	OMIM:131300
121340	SP7	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
121340	SP7	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
121340	SP7	HP:0007807	Optic nerve compression	-	OMIM:131300
121340	SP7	HP:0012368	Flat face	7/7	OMIM:615777
121340	SP7	HP:0012368	Flat face	1/1	OMIM:612394
121340	SP7	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
121340	SP7	HP:0007875	Congenital blindness	4/5	OMIM:259770
121340	SP7	HP:0007862	Retinal calcification	1/5	OMIM:259770
121340	SP7	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
121340	SP7	HP:0006487	Bowing of the long bones	1/1	OMIM:613849
121340	SP7	HP:0006488	Bowing of the arm	1/1	OMIM:613849
121340	SP7	HP:0000365	Hearing impairment	0/1	OMIM:613849
121340	SP7	HP:0000365	Hearing impairment	10/67	OMIM:131300
121340	SP7	HP:0000369	Low-set ears	2/2	OMIM:612394
121340	SP7	HP:0000343	Long philtrum	1/7	OMIM:615777
121340	SP7	HP:0011001	Increased bone mineral density	-	OMIM:131300
121340	SP7	HP:0000336	Prominent supraorbital ridges	1/1	OMIM:613849
121340	SP7	HP:0000347	Micrognathia	1/1	OMIM:613849
121340	SP7	HP:0002982	Tibial bowing	1/5	OMIM:259770
121340	SP7	HP:0002979	Bowing of the legs	1/1	OMIM:613849
121340	SP7	HP:0000311	Round face	2/7	OMIM:615777
121340	SP7	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
121340	SP7	HP:0000324	Facial asymmetry	1/1	OMIM:613849
121340	SP7	HP:0001629	Ventricular septal defect	-	OMIM:259770
121340	SP7	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
121340	SP7	HP:0002970	Genu varum	-	OMIM:615777
121340	SP7	HP:0000307	Pointed chin	1/2	OMIM:612394
121340	SP7	HP:0000303	Mandibular prognathia	-	OMIM:131300
121340	SP7	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
121340	SP7	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:1513
121340	SP7	HP:0000402	Stenosis of the external auditory canal	HP:0040282	ORPHA:1513
121340	SP7	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:1513
121340	SP7	HP:0005280	Depressed nasal bridge	1/1	OMIM:613849
121340	SP7	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
121340	SP7	HP:0000463	Anteverted nares	1/1	OMIM:612394
121340	SP7	HP:0000470	Short neck	1/7	OMIM:615777
121340	SP7	HP:0001769	Broad foot	HP:0040283	OMIM:615777
121340	SP7	HP:0001763	Pes planus	1/7	OMIM:615777
121340	SP7	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
121340	SP7	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:1513
121340	SP7	HP:0000518	Cataract	1/5	OMIM:259770
121340	SP7	HP:0000518	Cataract	1/1	OMIM:612394
121340	SP7	HP:0001840	Metatarsus adductus	-	OMIM:615777
121340	SP7	HP:0000520	Proptosis	2/4	OMIM:131300
121340	SP7	HP:0000520	Proptosis	7/7	OMIM:615777
121340	SP7	HP:0000592	Blue sclerae	2/7	OMIM:615777
121340	SP7	HP:0000592	Blue sclerae	0/1	OMIM:613849
121340	SP7	HP:0000591	Abnormal sclera morphology	0/1	OMIM:613849
121340	SP7	HP:0000586	Shallow orbits	1/1	OMIM:612394
121340	SP7	HP:0011220	Prominent forehead	1/1	OMIM:613849
121340	SP7	HP:0000568	Microphthalmia	1/5	OMIM:259770
121340	SP7	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
121340	SP7	HP:0012514	Lower limb pain	4/4	OMIM:131300
121340	SP7	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
121340	SP7	HP:0000545	Myopia	1/1	OMIM:612394
121391	KRT74	HP:0002550	Absent facial hair	-	ORPHA:90368
121391	KRT74	HP:0007550	Hypohidrosis or hyperhidrosis	-	ORPHA:90368
121391	KRT74	HP:0000007	Autosomal recessive inheritance	-	OMIM:614929
121391	KRT74	HP:0000006	Autosomal dominant inheritance	-	OMIM:613981
121391	KRT74	HP:0000006	Autosomal dominant inheritance	-	OMIM:194300
121391	KRT74	HP:0000164	Abnormality of the dentition	0/14	OMIM:613981
121391	KRT74	HP:0000164	Abnormality of the dentition	-	ORPHA:90368
121391	KRT74	HP:0000164	Abnormality of the dentition	0/4	OMIM:614929
121391	KRT74	HP:0003577	Congenital onset	-	OMIM:194300
121391	KRT74	HP:0003577	Congenital onset	4/4	OMIM:614929
121391	KRT74	HP:0002224	Woolly hair	HP:0040281	ORPHA:170
121391	KRT74	HP:0002224	Woolly hair	14/14	OMIM:194300
121391	KRT74	HP:0002217	Slow-growing hair	HP:0040282	ORPHA:170
121391	KRT74	HP:0002217	Slow-growing hair	14/14	OMIM:194300
121391	KRT74	HP:0002231	Sparse body hair	HP:0040283	ORPHA:170
121391	KRT74	HP:0002213	Fine hair	HP:0040281	ORPHA:170
121391	KRT74	HP:0002213	Fine hair	HP:0040281	ORPHA:90368
121391	KRT74	HP:0002209	Sparse scalp hair	14/14	OMIM:613981
121391	KRT74	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:90368
121391	KRT74	HP:0002209	Sparse scalp hair	4/4	OMIM:614929
121391	KRT74	HP:0002208	Coarse hair	14/14	OMIM:194300
121391	KRT74	HP:0010719	Abnormality of hair texture	HP:0040281	ORPHA:170
121391	KRT74	HP:0002299	Brittle hair	HP:0040281	ORPHA:170
121391	KRT74	HP:0002299	Brittle hair	4/4	OMIM:614929
121391	KRT74	HP:0002293	Alopecia of scalp	HP:0040282	ORPHA:90368
121391	KRT74	HP:0008391	Dystrophic fingernails	4/4	OMIM:614929
121391	KRT74	HP:0001036	Parakeratosis	HP:0040282	ORPHA:90368
121391	KRT74	HP:0001047	Atopic dermatitis	HP:0040283	ORPHA:90368
121391	KRT74	HP:0025092	Epidermal acanthosis	HP:0040282	ORPHA:90368
121391	KRT74	HP:0032152	Keratosis pilaris	0/14	OMIM:194300
121391	KRT74	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:170
121391	KRT74	HP:0100134	Abnormality of the axillary hair	-	ORPHA:90368
121391	KRT74	HP:0100133	Abnormality of the pubic hair	-	ORPHA:90368
121391	KRT74	HP:0000615	Abnormal pupil morphology	HP:0040283	ORPHA:170
121391	KRT74	HP:0011359	Dry hair	14/14	OMIM:194300
121391	KRT74	HP:0000653	Sparse eyelashes	4/4	OMIM:614929
121391	KRT74	HP:0100038	Slow-growing scalp hair	HP:0040281	ORPHA:90368
121391	KRT74	HP:0011463	Childhood onset	14/14	OMIM:613981
121391	KRT74	HP:0003193	Allergic rhinitis	HP:0040283	ORPHA:90368
121391	KRT74	HP:0003212	Increased circulating IgE concentration	HP:0040283	ORPHA:90368
121391	KRT74	HP:0004528	Generalized hypotrichosis	-	ORPHA:90368
121391	KRT74	HP:0045075	Sparse eyebrow	4/4	OMIM:614929
121391	KRT74	HP:0000972	Palmoplantar hyperkeratosis	0/14	OMIM:194300
121391	KRT74	HP:0000971	Abnormal sweat gland morphology	0/14	OMIM:613981
121391	KRT74	HP:0000971	Abnormal sweat gland morphology	0/4	OMIM:614929
121391	KRT74	HP:0000989	Pruritus	HP:0040283	ORPHA:90368
121391	KRT74	HP:0000951	Abnormality of the skin	0/4	OMIM:614929
121391	KRT74	HP:0000962	Hyperkeratosis	HP:0040282	ORPHA:90368
121391	KRT74	HP:0040189	Scaling skin	HP:0040283	ORPHA:90368
121391	KRT74	HP:0001597	Abnormal nail morphology	-	ORPHA:90368
121391	KRT74	HP:0001597	Abnormal nail morphology	0/14	OMIM:613981
121391	KRT74	HP:0001596	Alopecia	-	OMIM:614929
121391	KRT74	HP:0000499	Abnormal eyelash morphology	-	ORPHA:90368
121391	KRT74	HP:0000499	Abnormal eyelash morphology	0/14	OMIM:194300
121391	KRT74	HP:0000499	Abnormal eyelash morphology	0/14	OMIM:613981
121391	KRT74	HP:0005338	Sparse lateral eyebrow	HP:0040283	ORPHA:170
121391	KRT74	HP:0000486	Strabismus	HP:0040283	ORPHA:170
121391	KRT74	HP:0000479	Abnormal retinal morphology	HP:0040283	ORPHA:170
121391	KRT74	HP:0000518	Cataract	HP:0040283	ORPHA:170
121391	KRT74	HP:0001806	Onycholysis	4/4	OMIM:614929
121391	KRT74	HP:0001810	Dystrophic toenail	4/4	OMIM:614929
121391	KRT74	HP:0000534	Abnormal eyebrow morphology	-	ORPHA:90368
121391	KRT74	HP:0000534	Abnormal eyebrow morphology	0/14	OMIM:194300
121512	FGD4	HP:0001270	Motor delay	6/6	OMIM:609311
121512	FGD4	HP:0001284	Areflexia	6/6	OMIM:609311
121512	FGD4	HP:0001265	Hyporeflexia	-	OMIM:609311
121512	FGD4	HP:0001245	Small thenar eminence	2/6	OMIM:609311
121512	FGD4	HP:0002515	Waddling gait	-	OMIM:609311
121512	FGD4	HP:0000007	Autosomal recessive inheritance	-	OMIM:609311
121512	FGD4	HP:0033748	Hypoesthesia	6/6	OMIM:609311
121512	FGD4	HP:0002650	Scoliosis	4/6	OMIM:609311
121512	FGD4	HP:0008944	Distal lower limb amyotrophy	-	OMIM:609311
121512	FGD4	HP:0003383	Onion bulb formation	2/2	OMIM:609311
121512	FGD4	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2/2	OMIM:609311
121512	FGD4	HP:0010487	Small hypothenar eminence	2/6	OMIM:609311
121512	FGD4	HP:0003484	Upper limb muscle weakness	-	OMIM:609311
121512	FGD4	HP:0003431	Decreased motor nerve conduction velocity	2/2	OMIM:609311
121512	FGD4	HP:0002317	Unsteady gait	6/6	OMIM:609311
121512	FGD4	HP:0007182	Peripheral hypomyelination	-	OMIM:609311
121512	FGD4	HP:0009053	Distal lower limb muscle weakness	-	OMIM:609311
121512	FGD4	HP:0011463	Childhood onset	6/6	OMIM:609311
121512	FGD4	HP:0002936	Distal sensory impairment	-	OMIM:609311
121512	FGD4	HP:0001762	Talipes equinovarus	4/6	OMIM:609311
121512	FGD4	HP:0001761	Pes cavus	-	OMIM:609311
122402	TDRD9	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
122402	TDRD9	HP:0031038	Spermatogenesis maturation arrest	3/3	OMIM:618110
122402	TDRD9	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
122402	TDRD9	HP:0000028	Cryptorchidism	2/5	OMIM:618110
122402	TDRD9	HP:0000027	Azoospermia	4/5	OMIM:618110
122402	TDRD9	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
122402	TDRD9	HP:0000007	Autosomal recessive inheritance	-	OMIM:618110
122402	TDRD9	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
122402	TDRD9	HP:0030974	Cryptozoospermia	1/5	OMIM:618110
122402	TDRD9	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
122402	TDRD9	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
122402	TDRD9	HP:0011462	Young adult onset	5/5	OMIM:618110
122402	TDRD9	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
122402	TDRD9	HP:0003251	Male infertility	5/5	OMIM:618110
122481	AK7	HP:0033525	Absent sperm axoneme central pair complex	1/1	OMIM:617965
122481	AK7	HP:0000007	Autosomal recessive inheritance	-	OMIM:617965
122481	AK7	HP:0032558	Absent sperm flagella	2/2	OMIM:617965
122481	AK7	HP:0032559	Short sperm flagella	2/2	OMIM:617965
122481	AK7	HP:0032560	Coiled sperm flagella	2/2	OMIM:617965
122481	AK7	HP:0011462	Young adult onset	2/2	OMIM:617965
122481	AK7	HP:0003251	Male infertility	2/2	OMIM:617965
122481	AK7	HP:0012207	Reduced sperm motility	2/2	OMIM:617965
122553	TRAPPC6B	HP:0010862	Delayed fine motor development	6/6	OMIM:617862
122553	TRAPPC6B	HP:0010864	Intellectual disability, severe	6/6	OMIM:617862
122553	TRAPPC6B	HP:0001272	Cerebellar atrophy	4/4	OMIM:617862
122553	TRAPPC6B	HP:0001252	Hypotonia	6/6	OMIM:617862
122553	TRAPPC6B	HP:0001263	Global developmental delay	6/6	OMIM:617862
122553	TRAPPC6B	HP:0007366	Atrophy/Degeneration affecting the brainstem	4/4	OMIM:617862
122553	TRAPPC6B	HP:0001347	Hyperreflexia	6/6	OMIM:617862
122553	TRAPPC6B	HP:0001324	Muscle weakness	6/6	OMIM:617862
122553	TRAPPC6B	HP:0001344	Absent speech	3/6	OMIM:617862
122553	TRAPPC6B	HP:0000007	Autosomal recessive inheritance	-	OMIM:617862
122553	TRAPPC6B	HP:0002015	Dysphagia	1/6	OMIM:617862
122553	TRAPPC6B	HP:0002069	Bilateral tonic-clonic seizure	6/6	OMIM:617862
122553	TRAPPC6B	HP:0002066	Gait ataxia	2/6	OMIM:617862
122553	TRAPPC6B	HP:0002079	Hypoplasia of the corpus callosum	4/4	OMIM:617862
122553	TRAPPC6B	HP:0002120	Cerebral cortical atrophy	4/4	OMIM:617862
122553	TRAPPC6B	HP:0002119	Ventriculomegaly	4/4	OMIM:617862
122553	TRAPPC6B	HP:0002136	Broad-based gait	4/6	OMIM:617862
122553	TRAPPC6B	HP:0002194	Delayed gross motor development	6/6	OMIM:617862
122553	TRAPPC6B	HP:0003593	Infantile onset	1/5	OMIM:617862
122553	TRAPPC6B	HP:0002378	Hand tremor	4/6	OMIM:617862
122553	TRAPPC6B	HP:0003676	Progressive	-	OMIM:617862
122553	TRAPPC6B	HP:0000666	Horizontal nystagmus	3/6	OMIM:617862
122553	TRAPPC6B	HP:0004322	Short stature	6/6	OMIM:617862
122553	TRAPPC6B	HP:0100023	Recurrent hand flapping	6/6	OMIM:617862
122553	TRAPPC6B	HP:0000733	Motor stereotypy	6/6	OMIM:617862
122553	TRAPPC6B	HP:0011463	Childhood onset	4/5	OMIM:617862
122553	TRAPPC6B	HP:0033044	Motor regression	2/6	OMIM:617862
122553	TRAPPC6B	HP:0000253	Progressive microcephaly	6/6	OMIM:617862
122553	TRAPPC6B	HP:0000486	Strabismus	4/6	OMIM:617862
122622	ADSS1	HP:0003798	Nemaline bodies	HP:0040283	ORPHA:482601
122622	ADSS1	HP:0007210	Lower limb amyotrophy	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0003731	Quadriceps muscle weakness	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0002540	Inability to walk	HP:0040283	ORPHA:482601
122622	ADSS1	HP:0032341	Reduced forced vital capacity	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0003805	Rimmed vacuoles	3/4	OMIM:617030
122622	ADSS1	HP:0003805	Rimmed vacuoles	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617030
122622	ADSS1	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0031108	Triceps weakness	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0002600	Hyporeflexia of lower limbs	4/4	OMIM:617030
122622	ADSS1	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0008959	Distal upper limb muscle weakness	4/4	OMIM:617030
122622	ADSS1	HP:0008959	Distal upper limb muscle weakness	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0008944	Distal lower limb amyotrophy	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0031237	Internally nucleated skeletal muscle fibers	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0003376	Steppage gait	HP:0040283	ORPHA:482601
122622	ADSS1	HP:0008180	Mildly elevated creatine kinase	4/4	OMIM:617030
122622	ADSS1	HP:0003474	Somatic sensory dysfunction	-	ORPHA:482601
122622	ADSS1	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:482601
122622	ADSS1	HP:0003555	Muscle fiber splitting	4/4	OMIM:617030
122622	ADSS1	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0002200	Pseudobulbar signs	HP:0040284	ORPHA:482601
122622	ADSS1	HP:0034677	Ankle contracture	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0003693	Distal amyotrophy	4/4	OMIM:617030
122622	ADSS1	HP:0002359	Frequent falls	HP:0040283	ORPHA:482601
122622	ADSS1	HP:0003677	Slowly progressive	-	OMIM:617030
122622	ADSS1	HP:0002317	Unsteady gait	HP:0040281	ORPHA:482601
122622	ADSS1	HP:0003621	Juvenile onset	4/4	OMIM:617030
122622	ADSS1	HP:0009072	Decreased Achilles reflex	HP:0040283	ORPHA:482601
122622	ADSS1	HP:0009050	Quadriceps muscle atrophy	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0009053	Distal lower limb muscle weakness	4/4	OMIM:617030
122622	ADSS1	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0009046	Difficulty running	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0009129	Upper limb amyotrophy	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0003198	Myopathy	4/4	OMIM:617030
122622	ADSS1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:482601
122622	ADSS1	HP:0034391	Elbow contracture	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0000218	High palate	HP:0040283	ORPHA:482601
122622	ADSS1	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0005216	Impaired mastication	HP:0040284	ORPHA:482601
122622	ADSS1	HP:0030193	Fatigable weakness of chewing muscles	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:482601
122622	ADSS1	HP:0030319	Weakness of facial musculature	4/4	OMIM:617030
122622	ADSS1	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:482601
122622	ADSS1	HP:0012548	Fatty replacement of skeletal muscle	HP:0040283	ORPHA:482601
122961	ISCA2	HP:0002415	Leukodystrophy	-	OMIM:616370
122961	ISCA2	HP:0001290	Generalized hypotonia	-	OMIM:616370
122961	ISCA2	HP:0001257	Spasticity	6/6	OMIM:616370
122961	ISCA2	HP:0002518	Abnormal periventricular white matter morphology	-	OMIM:616370
122961	ISCA2	HP:0001347	Hyperreflexia	-	OMIM:616370
122961	ISCA2	HP:0001344	Absent speech	6/6	OMIM:616370
122961	ISCA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616370
122961	ISCA2	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:616370
122961	ISCA2	HP:0003593	Infantile onset	6/6	OMIM:616370
122961	ISCA2	HP:0002376	Developmental regression	4/6	OMIM:616370
122961	ISCA2	HP:0003676	Progressive	-	OMIM:616370
122961	ISCA2	HP:0000639	Nystagmus	-	OMIM:616370
122961	ISCA2	HP:0000648	Optic atrophy	6/6	OMIM:616370
122961	ISCA2	HP:0012736	Profound global developmental delay	2/6	OMIM:616370
122961	ISCA2	HP:0031358	Vegetative state	-	OMIM:616370
122961	ISCA2	HP:0000505	Visual impairment	-	OMIM:616370
123016	TTC8	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
123016	TTC8	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
123016	TTC8	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
123016	TTC8	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
123016	TTC8	HP:0001250	Seizure	HP:0040283	ORPHA:110
123016	TTC8	HP:0001251	Ataxia	HP:0040283	ORPHA:110
123016	TTC8	HP:0001249	Intellectual disability	-	OMIM:615985
123016	TTC8	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
123016	TTC8	HP:0001263	Global developmental delay	0/4	OMIM:613464
123016	TTC8	HP:0001263	Global developmental delay	8/8	OMIM:615985
123016	TTC8	HP:0001257	Spasticity	HP:0040283	ORPHA:110
123016	TTC8	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
123016	TTC8	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
123016	TTC8	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
123016	TTC8	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
123016	TTC8	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
123016	TTC8	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
123016	TTC8	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
123016	TTC8	HP:0000077	Abnormality of the kidney	0/4	OMIM:613464
123016	TTC8	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
123016	TTC8	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
123016	TTC8	HP:0000047	Hypospadias	-	OMIM:615985
123016	TTC8	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
123016	TTC8	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
123016	TTC8	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
123016	TTC8	HP:0000007	Autosomal recessive inheritance	-	OMIM:613464
123016	TTC8	HP:0000007	Autosomal recessive inheritance	-	OMIM:615985
123016	TTC8	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
123016	TTC8	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
123016	TTC8	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
123016	TTC8	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
123016	TTC8	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
123016	TTC8	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
123016	TTC8	HP:0000135	Hypogonadism	5/6	OMIM:615985
123016	TTC8	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
123016	TTC8	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
123016	TTC8	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
123016	TTC8	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
123016	TTC8	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
123016	TTC8	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
123016	TTC8	HP:0007663	Reduced visual acuity	4/4	OMIM:613464
123016	TTC8	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
123016	TTC8	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
123016	TTC8	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
123016	TTC8	HP:0000110	Renal dysplasia	HP:0040283	OMIM:615985
123016	TTC8	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
123016	TTC8	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
123016	TTC8	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
123016	TTC8	HP:0002099	Asthma	HP:0040283	ORPHA:110
123016	TTC8	HP:0010442	Polydactyly	0/4	OMIM:613464
123016	TTC8	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
123016	TTC8	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
123016	TTC8	HP:0003577	Congenital onset	8/8	OMIM:615985
123016	TTC8	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
123016	TTC8	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
123016	TTC8	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
123016	TTC8	HP:0008323	Abnormal light- and dark-adapted electroretinogram	-	OMIM:613464
123016	TTC8	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
123016	TTC8	HP:0003621	Juvenile onset	8/19	OMIM:180100
123016	TTC8	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
123016	TTC8	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
123016	TTC8	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
123016	TTC8	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
123016	TTC8	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
123016	TTC8	HP:0000618	Blindness	HP:0040281	ORPHA:791
123016	TTC8	HP:0000618	Blindness	HP:0040282	ORPHA:110
123016	TTC8	HP:0000613	Photophobia	HP:0040282	ORPHA:110
123016	TTC8	HP:0000613	Photophobia	HP:0040281	ORPHA:791
123016	TTC8	HP:0000613	Photophobia	-	OMIM:613464
123016	TTC8	HP:0000608	Macular degeneration	-	OMIM:613464
123016	TTC8	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
123016	TTC8	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
123016	TTC8	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
123016	TTC8	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
123016	TTC8	HP:0000691	Microdontia	HP:0040283	ORPHA:110
123016	TTC8	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
123016	TTC8	HP:0000662	Nyctalopia	-	OMIM:613464
123016	TTC8	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
123016	TTC8	HP:0000662	Nyctalopia	26/28	OMIM:180100
123016	TTC8	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
123016	TTC8	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
123016	TTC8	HP:0004322	Short stature	HP:0040282	ORPHA:110
123016	TTC8	HP:0000739	Anxiety	HP:0040283	ORPHA:110
123016	TTC8	HP:0000736	Short attention span	HP:0040282	ORPHA:110
123016	TTC8	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
123016	TTC8	HP:0000716	Depression	HP:0040282	ORPHA:110
123016	TTC8	HP:0000717	Autism	HP:0040282	ORPHA:110
123016	TTC8	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
123016	TTC8	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
123016	TTC8	HP:0011463	Childhood onset	3/19	OMIM:180100
123016	TTC8	HP:0011463	Childhood onset	4/4	OMIM:613464
123016	TTC8	HP:0011462	Young adult onset	8/19	OMIM:180100
123016	TTC8	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
123016	TTC8	HP:0000789	Infertility	HP:0040283	ORPHA:110
123016	TTC8	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
123016	TTC8	HP:0030786	Photopsia	HP:0040283	ORPHA:791
123016	TTC8	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
123016	TTC8	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
123016	TTC8	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
123016	TTC8	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
123016	TTC8	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
123016	TTC8	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
123016	TTC8	HP:0000822	Hypertension	HP:0040282	ORPHA:110
123016	TTC8	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
123016	TTC8	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
123016	TTC8	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
123016	TTC8	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
123016	TTC8	HP:0100259	Postaxial polydactyly	8/8	OMIM:615985
123016	TTC8	HP:0000980	Pallor	-	OMIM:613464
123016	TTC8	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
123016	TTC8	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
123016	TTC8	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
123016	TTC8	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
123016	TTC8	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
123016	TTC8	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
123016	TTC8	HP:0007737	Bone spicule pigmentation of the retina	4/4	OMIM:613464
123016	TTC8	HP:0000248	Brachycephaly	8/8	OMIM:615985
123016	TTC8	HP:0000218	High palate	HP:0040282	ORPHA:110
123016	TTC8	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
123016	TTC8	HP:0001513	Obesity	HP:0040281	ORPHA:110
123016	TTC8	HP:0001513	Obesity	8/8	OMIM:615985
123016	TTC8	HP:0001513	Obesity	0/4	OMIM:613464
123016	TTC8	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
123016	TTC8	HP:0007843	Attenuation of retinal blood vessels	4/4	OMIM:613464
123016	TTC8	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
123016	TTC8	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
123016	TTC8	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
123016	TTC8	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
123016	TTC8	HP:0000388	Otitis media	HP:0040283	ORPHA:110
123016	TTC8	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
123016	TTC8	HP:0001696	Situs inversus totalis	1/8	OMIM:615985
123016	TTC8	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
123016	TTC8	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
123016	TTC8	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
123016	TTC8	HP:0011003	High myopia	-	OMIM:613464
123016	TTC8	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
123016	TTC8	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
123016	TTC8	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
123016	TTC8	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
123016	TTC8	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
123016	TTC8	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
123016	TTC8	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
123016	TTC8	HP:0000400	Macrotia	HP:0040283	ORPHA:110
123016	TTC8	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
123016	TTC8	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
123016	TTC8	HP:0000486	Strabismus	HP:0040283	ORPHA:110
123016	TTC8	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
123016	TTC8	HP:0000470	Short neck	HP:0040283	ORPHA:110
123016	TTC8	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
123016	TTC8	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
123016	TTC8	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
123016	TTC8	HP:0000518	Cataract	HP:0040283	ORPHA:110
123016	TTC8	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
123016	TTC8	HP:0000510	Rod-cone dystrophy	8/8	OMIM:615985
123016	TTC8	HP:0000510	Rod-cone dystrophy	4/4	OMIM:613464
123016	TTC8	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
123016	TTC8	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
123016	TTC8	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
123016	TTC8	HP:0000505	Visual impairment	-	OMIM:613464
123016	TTC8	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
123016	TTC8	HP:0000575	Scotoma	5/18	OMIM:180100
123016	TTC8	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
123016	TTC8	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
123016	TTC8	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
123016	TTC8	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
123016	TTC8	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
123016	TTC8	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
123016	TTC8	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
123016	TTC8	HP:0000543	Optic disc pallor	1/1	OMIM:180100
123016	TTC8	HP:0000545	Myopia	-	OMIM:180100
123041	SLC24A4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615887
123041	SLC24A4	HP:0006286	Yellow-brown discoloration of the teeth	6/6	OMIM:615887
123041	SLC24A4	HP:0002164	Nail dysplasia	1/1	OMIM:615887
123041	SLC24A4	HP:0000670	Carious teeth	1/1	OMIM:615887
123041	SLC24A4	HP:0000705	Amelogenesis imperfecta	6/6	OMIM:615887
123041	SLC24A4	HP:0011463	Childhood onset	1/1	OMIM:615887
123263	MTFMT	HP:0002490	Increased CSF lactate	3/3	OMIM:614947
123263	MTFMT	HP:0007256	Abnormal pyramidal sign	1/3	OMIM:614947
123263	MTFMT	HP:0001250	Seizure	1/3	OMIM:614947
123263	MTFMT	HP:0001252	Hypotonia	1/2	OMIM:618248
123263	MTFMT	HP:0001252	Hypotonia	HP:0040283	OMIM:614947
123263	MTFMT	HP:0001251	Ataxia	1/3	OMIM:614947
123263	MTFMT	HP:0001251	Ataxia	1/2	OMIM:618248
123263	MTFMT	HP:0001249	Intellectual disability	1/2	OMIM:618248
123263	MTFMT	HP:0001263	Global developmental delay	2/2	OMIM:618248
123263	MTFMT	HP:0001263	Global developmental delay	3/3	OMIM:614947
123263	MTFMT	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/3	OMIM:614947
123263	MTFMT	HP:0002510	Spastic tetraplegia	1/2	OMIM:618248
123263	MTFMT	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:614947
123263	MTFMT	HP:0000023	Inguinal hernia	1/3	OMIM:614947
123263	MTFMT	HP:0000011	Neurogenic bladder	1/2	OMIM:618248
123263	MTFMT	HP:0000007	Autosomal recessive inheritance	-	OMIM:618248
123263	MTFMT	HP:0000007	Autosomal recessive inheritance	-	OMIM:614947
123263	MTFMT	HP:0001337	Tremor	HP:0040283	OMIM:614947
123263	MTFMT	HP:0007663	Reduced visual acuity	2/3	OMIM:614947
123263	MTFMT	HP:0005943	Respiratory arrest	1/3	OMIM:614947
123263	MTFMT	HP:0100543	Cognitive impairment	-	OMIM:614947
123263	MTFMT	HP:0002151	Increased circulating lactate concentration	1/3	OMIM:614947
123263	MTFMT	HP:0011923	Decreased activity of mitochondrial complex I	3/3	OMIM:614947
123263	MTFMT	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:618248
123263	MTFMT	HP:0003593	Infantile onset	2/2	OMIM:618248
123263	MTFMT	HP:0008347	Decreased activity of mitochondrial complex IV	3/3	OMIM:614947
123263	MTFMT	HP:0002344	Progressive neurologic deterioration	3/3	OMIM:614947
123263	MTFMT	HP:0002317	Unsteady gait	-	OMIM:614947
123263	MTFMT	HP:0200055	Small hand	1/3	OMIM:614947
123263	MTFMT	HP:0002311	Incoordination	1/3	OMIM:614947
123263	MTFMT	HP:0000639	Nystagmus	HP:0040283	OMIM:614947
123263	MTFMT	HP:0000648	Optic atrophy	1/2	OMIM:618248
123263	MTFMT	HP:0000648	Optic atrophy	1/3	OMIM:614947
123263	MTFMT	HP:0004322	Short stature	HP:0040283	OMIM:614947
123263	MTFMT	HP:0000750	Delayed speech and language development	-	OMIM:614947
123263	MTFMT	HP:0030765	Sleep terror	1/3	OMIM:614947
123263	MTFMT	HP:0000822	Hypertension	1/3	OMIM:614947
123263	MTFMT	HP:0000954	Single transverse palmar crease	1/3	OMIM:614947
123263	MTFMT	HP:0005144	Ventricular septal hypertrophy	HP:0040284	OMIM:614947
123263	MTFMT	HP:0000252	Microcephaly	HP:0040283	OMIM:614947
123263	MTFMT	HP:0001513	Obesity	HP:0040283	OMIM:614947
123263	MTFMT	HP:0005165	Shortened PR interval	2/3	OMIM:614947
123263	MTFMT	HP:0001629	Ventricular septal defect	HP:0040283	OMIM:614947
123263	MTFMT	HP:0001716	Wolff-Parkinson-White syndrome	2/3	OMIM:614947
123263	MTFMT	HP:0000486	Strabismus	1/3	OMIM:614947
123263	MTFMT	HP:0000511	Vertical supranuclear gaze palsy	1/2	OMIM:618248
123263	MTFMT	HP:0000543	Optic disc pallor	1/3	OMIM:614947
123264	SLC51B	HP:0002570	Steatorrhea	2/2	OMIM:619481
123264	SLC51B	HP:0025321	Copper accumulation in liver	1/1	OMIM:619481
123264	SLC51B	HP:0000007	Autosomal recessive inheritance	-	OMIM:619481
123264	SLC51B	HP:0001405	Periportal fibrosis	1/2	OMIM:619481
123264	SLC51B	HP:0002028	Chronic diarrhea	2/2	OMIM:619481
123264	SLC51B	HP:0030948	Elevated gamma-glutamyltransferase level	2/2	OMIM:619481
123264	SLC51B	HP:0100512	Decreased circulating vitamin D concentration	2/2	OMIM:619481
123264	SLC51B	HP:0100513	Decreased circulating vitamin E concentration	2/2	OMIM:619481
123264	SLC51B	HP:0003623	Neonatal onset	2/2	OMIM:619481
123264	SLC51B	HP:0004905	Reduced circulating vitamin A concentration	2/2	OMIM:619481
123264	SLC51B	HP:0034048	Decreased circulating chenodeoxycholic acid concentration	2/2	OMIM:619481
123264	SLC51B	HP:0031956	Elevated circulating aspartate aminotransferase concentration	2/2	OMIM:619481
123264	SLC51B	HP:0031964	Elevated circulating alanine aminotransferase concentration	2/2	OMIM:619481
123264	SLC51B	HP:0006579	Prolonged neonatal jaundice	1/2	OMIM:619481
123606	NIPA1	HP:0002495	Impaired vibratory sensation	HP:0040281	ORPHA:100988
123606	NIPA1	HP:0001270	Motor delay	HP:0040282	ORPHA:261183
123606	NIPA1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:100988
123606	NIPA1	HP:0001250	Seizure	HP:0040283	ORPHA:261183
123606	NIPA1	HP:0001250	Seizure	-	OMIM:600363
123606	NIPA1	HP:0001251	Ataxia	HP:0040283	ORPHA:261183
123606	NIPA1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:261183
123606	NIPA1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:261183
123606	NIPA1	HP:0001258	Spastic paraplegia	HP:0040281	ORPHA:100988
123606	NIPA1	HP:0001258	Spastic paraplegia	-	OMIM:600363
123606	NIPA1	HP:0410263	Brain imaging abnormality	HP:0040282	ORPHA:261183
123606	NIPA1	HP:0007340	Lower limb muscle weakness	-	OMIM:600363
123606	NIPA1	HP:0003828	Variable expressivity	-	OMIM:600363
123606	NIPA1	HP:0008800	Limited hip movement	HP:0040282	ORPHA:100988
123606	NIPA1	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:100988
123606	NIPA1	HP:0000020	Urinary incontinence	-	OMIM:600363
123606	NIPA1	HP:0001347	Hyperreflexia	-	OMIM:600363
123606	NIPA1	HP:0000012	Urinary urgency	-	OMIM:600363
123606	NIPA1	HP:0001337	Tremor	HP:0040283	OMIM:600363
123606	NIPA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:600363
123606	NIPA1	HP:0000174	Abnormal palate morphology	HP:0040282	ORPHA:261183
123606	NIPA1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:100988
123606	NIPA1	HP:0002064	Spastic gait	-	OMIM:600363
123606	NIPA1	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:100988
123606	NIPA1	HP:0002061	Lower limb spasticity	-	OMIM:600363
123606	NIPA1	HP:0003487	Babinski sign	-	OMIM:600363
123606	NIPA1	HP:0003487	Babinski sign	HP:0040281	ORPHA:100988
123606	NIPA1	HP:0002198	Dilated fourth ventricle	HP:0040284	ORPHA:261183
123606	NIPA1	HP:0002169	Clonus	-	OMIM:600363
123606	NIPA1	HP:0002166	Impaired vibration sensation in the lower limbs	-	OMIM:600363
123606	NIPA1	HP:0002174	Postural tremor	HP:0040283	ORPHA:100988
123606	NIPA1	HP:0002172	Postural instability	HP:0040283	ORPHA:261183
123606	NIPA1	HP:0010522	Dyslexia	HP:0040282	ORPHA:261183
123606	NIPA1	HP:0010505	Limitation of movement at ankles	HP:0040282	ORPHA:100988
123606	NIPA1	HP:0003587	Insidious onset	-	OMIM:600363
123606	NIPA1	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:261183
123606	NIPA1	HP:0100753	Schizophrenia	HP:0040283	ORPHA:261183
123606	NIPA1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:261183
123606	NIPA1	HP:0002395	Lower limb hyperreflexia	HP:0040281	ORPHA:100988
123606	NIPA1	HP:0002370	Poor coordination	HP:0040283	ORPHA:261183
123606	NIPA1	HP:0003676	Progressive	-	OMIM:600363
123606	NIPA1	HP:0002354	Memory impairment	HP:0040282	ORPHA:261183
123606	NIPA1	HP:0002314	Degeneration of the lateral corticospinal tracts	-	OMIM:600363
123606	NIPA1	HP:0006891	Thick cerebral cortex	HP:0040282	ORPHA:261183
123606	NIPA1	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:261183
123606	NIPA1	HP:0000736	Short attention span	HP:0040283	ORPHA:261183
123606	NIPA1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:261183
123606	NIPA1	HP:0000717	Autism	HP:0040283	ORPHA:261183
123606	NIPA1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:261183
123606	NIPA1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:261183
123606	NIPA1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:100988
123606	NIPA1	HP:0000252	Microcephaly	HP:0040283	ORPHA:261183
123606	NIPA1	HP:0002839	Urinary bladder sphincter dysfunction	-	OMIM:600363
123606	NIPA1	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:261183
123606	NIPA1	HP:0005160	Total anomalous pulmonary venous return	HP:0040284	ORPHA:261183
123606	NIPA1	HP:0000337	Broad forehead	HP:0040283	ORPHA:261183
123606	NIPA1	HP:0001680	Coarctation of aorta	HP:0040284	ORPHA:261183
123606	NIPA1	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:261183
123606	NIPA1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:261183
123606	NIPA1	HP:0001636	Tetralogy of Fallot	HP:0040284	ORPHA:261183
123606	NIPA1	HP:0001631	Atrial septal defect	HP:0040284	ORPHA:261183
123606	NIPA1	HP:0001761	Pes cavus	-	OMIM:600363
123606	NIPA1	HP:0001761	Pes cavus	HP:0040282	ORPHA:100988
123624	AGBL1	HP:0001131	Corneal dystrophy	-	OMIM:615523
123624	AGBL1	HP:0012038	Corneal guttata	12/12	OMIM:615523
123624	AGBL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615523
123624	AGBL1	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:98974
123624	AGBL1	HP:0003581	Adult onset	-	OMIM:615523
123624	AGBL1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:98974
123624	AGBL1	HP:0011488	Abnormal corneal endothelium morphology	HP:0040281	ORPHA:98974
123624	AGBL1	HP:0011491	Reduced number of corneal endothelial cells	HP:0040281	ORPHA:98974
123624	AGBL1	HP:0011490	Abnormal Descemet membrane morphology	HP:0040281	ORPHA:98974
123624	AGBL1	HP:0030857	Eye movement-induced pain	HP:0040282	ORPHA:98974
123624	AGBL1	HP:0000969	Edema	HP:0040281	ORPHA:98974
123624	AGBL1	HP:0007957	Corneal opacity	HP:0040281	ORPHA:98974
123624	AGBL1	HP:0000572	Visual loss	HP:0040282	ORPHA:98974
123872	DNAAF1	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
123872	DNAAF1	HP:0001217	Clubbing	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613193
123872	DNAAF1	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
123872	DNAAF1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0031245	Productive cough	HP:0040282	ORPHA:244
123872	DNAAF1	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
123872	DNAAF1	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
123872	DNAAF1	HP:0002110	Bronchiectasis	5/5	OMIM:613193
123872	DNAAF1	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0008222	Female infertility	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
123872	DNAAF1	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
123872	DNAAF1	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
123872	DNAAF1	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
123872	DNAAF1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0000789	Infertility	2/2	OMIM:613193
123872	DNAAF1	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
123872	DNAAF1	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
123872	DNAAF1	HP:0030828	Wheezing	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0003251	Male infertility	HP:0040282	ORPHA:244
123872	DNAAF1	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
123872	DNAAF1	HP:0012257	Absent inner dynein arms	8/8	OMIM:613193
123872	DNAAF1	HP:0012265	Ciliary dyskinesia	-	OMIM:613193
123872	DNAAF1	HP:0012263	Immotile cilia	8/8	OMIM:613193
123872	DNAAF1	HP:0012256	Absent outer dynein arms	8/8	OMIM:613193
123872	DNAAF1	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
123872	DNAAF1	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
123872	DNAAF1	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
123872	DNAAF1	HP:0002837	Recurrent bronchitis	5/5	OMIM:613193
123872	DNAAF1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
123872	DNAAF1	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0001696	Situs inversus totalis	5/8	OMIM:613193
123872	DNAAF1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
123872	DNAAF1	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
123872	DNAAF1	HP:0000403	Recurrent otitis media	3/5	OMIM:613193
123872	DNAAF1	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
123872	DNAAF1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
123872	DNAAF1	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
123872	DNAAF1	HP:0011108	Recurrent sinusitis	4/5	OMIM:613193
123872	DNAAF1	HP:0001746	Asplenia	HP:0040284	ORPHA:244
123872	DNAAF1	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
123872	DNAAF1	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
123872	DNAAF1	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
123872	DNAAF1	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
123872	DNAAF1	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
124093	CCDC78	HP:0001270	Motor delay	2/5	OMIM:614807
124093	CCDC78	HP:0001250	Seizure	1/5	OMIM:614807
124093	CCDC78	HP:0001252	Hypotonia	-	OMIM:614807
124093	CCDC78	HP:0001249	Intellectual disability	1/5	OMIM:614807
124093	CCDC78	HP:0003803	Type 1 muscle fiber predominance	2/3	OMIM:614807
124093	CCDC78	HP:0001324	Muscle weakness	5/5	OMIM:614807
124093	CCDC78	HP:0000006	Autosomal dominant inheritance	-	OMIM:614807
124093	CCDC78	HP:0003326	Myalgia	3/5	OMIM:614807
124093	CCDC78	HP:0003546	Exercise intolerance	4/5	OMIM:614807
124093	CCDC78	HP:0002359	Frequent falls	3/5	OMIM:614807
124093	CCDC78	HP:0003687	Centrally nucleated skeletal muscle fibers	2/3	OMIM:614807
124093	CCDC78	HP:0003623	Neonatal onset	2/5	OMIM:614807
124093	CCDC78	HP:0011463	Childhood onset	3/5	OMIM:614807
124093	CCDC78	HP:0040081	Abnormal circulating creatine kinase concentration	0/4	OMIM:614807
124404	SEPTIN12	HP:0000006	Autosomal dominant inheritance	-	OMIM:614822
124404	SEPTIN12	HP:0011462	Young adult onset	2/2	OMIM:614822
124404	SEPTIN12	HP:0000798	Oligozoospermia	1/2	OMIM:614822
124404	SEPTIN12	HP:0012864	Abnormal sperm morphology	2/2	OMIM:614822
124404	SEPTIN12	HP:0003251	Male infertility	2/2	OMIM:614822
124404	SEPTIN12	HP:0012207	Reduced sperm motility	1/2	OMIM:614822
124454	EARS2	HP:0002421	Poor head control	1/1	OMIM:614924
124454	EARS2	HP:0001274	Agenesis of corpus callosum	3/11	OMIM:614924
124454	EARS2	HP:0001285	Spastic tetraparesis	9/12	OMIM:614924
124454	EARS2	HP:0001250	Seizure	6/12	OMIM:614924
124454	EARS2	HP:0001252	Hypotonia	1/1	OMIM:614924
124454	EARS2	HP:0001263	Global developmental delay	10/11	OMIM:614924
124454	EARS2	HP:0001396	Cholestasis	HP:0040283	OMIM:614924
124454	EARS2	HP:0001332	Dystonia	-	OMIM:614924
124454	EARS2	HP:0001344	Absent speech	7/12	OMIM:614924
124454	EARS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:614924
124454	EARS2	HP:0001319	Neonatal hypotonia	-	OMIM:614924
124454	EARS2	HP:0000175	Cleft palate	HP:0040283	OMIM:614924
124454	EARS2	HP:0008936	Axial hypotonia	5/12	OMIM:614924
124454	EARS2	HP:0006254	Elevated circulating alpha-fetoprotein concentration	1/1	OMIM:614924
124454	EARS2	HP:0001403	Macrovesicular hepatic steatosis	HP:0040283	OMIM:614924
124454	EARS2	HP:0002067	Bradykinesia	-	OMIM:614924
124454	EARS2	HP:0002079	Hypoplasia of the corpus callosum	6/11	OMIM:614924
124454	EARS2	HP:0003487	Babinski sign	4/12	OMIM:614924
124454	EARS2	HP:0002151	Increased circulating lactate concentration	-	OMIM:614924
124454	EARS2	HP:0011924	Decreased activity of mitochondrial complex III	1/1	OMIM:614924
124454	EARS2	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:614924
124454	EARS2	HP:0002188	Delayed CNS myelination	7/8	OMIM:614924
124454	EARS2	HP:0003593	Infantile onset	1/1	OMIM:614924
124454	EARS2	HP:0002240	Hepatomegaly	HP:0040283	OMIM:614924
124454	EARS2	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:614924
124454	EARS2	HP:0011968	Feeding difficulties	3/12	OMIM:614924
124454	EARS2	HP:0002376	Developmental regression	10/12	OMIM:614924
124454	EARS2	HP:0002352	Leukoencephalopathy	-	OMIM:614924
124454	EARS2	HP:0000602	Ophthalmoplegia	-	OMIM:614924
124454	EARS2	HP:0006989	Dysplastic corpus callosum	-	OMIM:614924
124454	EARS2	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:614924
124454	EARS2	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:614924
124454	EARS2	HP:0003128	Lactic acidosis	1/1	OMIM:614924
124454	EARS2	HP:0003200	Ragged-red muscle fibers	-	OMIM:614924
124454	EARS2	HP:0001508	Failure to thrive	-	OMIM:614924
124454	EARS2	HP:0000508	Ptosis	-	OMIM:614924
124454	EARS2	HP:0000505	Visual impairment	-	OMIM:614924
124512	METTL23	HP:0001256	Intellectual disability, mild	4/4	OMIM:615942
124512	METTL23	HP:0001252	Hypotonia	1/3	OMIM:615942
124512	METTL23	HP:0001249	Intellectual disability	3/3	OMIM:615942
124512	METTL23	HP:0001263	Global developmental delay	-	OMIM:615942
124512	METTL23	HP:0007359	Focal-onset seizure	1/3	OMIM:615942
124512	METTL23	HP:0000049	Shawl scrotum	1/2	OMIM:615942
124512	METTL23	HP:0000007	Autosomal recessive inheritance	-	OMIM:615942
124512	METTL23	HP:0000193	Bifid uvula	1/3	OMIM:615942
124512	METTL23	HP:0002069	Bilateral tonic-clonic seizure	1/3	OMIM:615942
124512	METTL23	HP:0003593	Infantile onset	-	OMIM:615942
124512	METTL23	HP:0000233	Thin vermilion border	3/3	OMIM:615942
124512	METTL23	HP:0000343	Long philtrum	1/3	OMIM:615942
124512	METTL23	HP:0005280	Depressed nasal bridge	3/3	OMIM:615942
124512	METTL23	HP:0000463	Anteverted nares	3/3	OMIM:615942
124512	METTL23	HP:0001763	Pes planus	4/4	OMIM:615942
124512	METTL23	HP:0005469	Flat occiput	3/3	OMIM:615942
124583	CANT1	HP:0001156	Brachydactyly	-	OMIM:143095
124583	CANT1	HP:0001156	Brachydactyly	-	OMIM:251450
124583	CANT1	HP:0009882	Short distal phalanx of finger	-	OMIM:143095
124583	CANT1	HP:0008551	Microtia	-	OMIM:143095
124583	CANT1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
124583	CANT1	HP:0001293	Cranial nerve compression	-	OMIM:131300
124583	CANT1	HP:0001290	Generalized hypotonia	-	OMIM:251450
124583	CANT1	HP:0001270	Motor delay	-	OMIM:251450
124583	CANT1	HP:0001252	Hypotonia	-	OMIM:251450
124583	CANT1	HP:0001252	Hypotonia	2/7	OMIM:615777
124583	CANT1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1425
124583	CANT1	HP:0001249	Intellectual disability	3/4	OMIM:251450
124583	CANT1	HP:0001249	Intellectual disability	0/9	OMIM:143095
124583	CANT1	HP:0001249	Intellectual disability	3/20	OMIM:150250
124583	CANT1	HP:0001249	Intellectual disability	5/7	OMIM:615777
124583	CANT1	HP:0001263	Global developmental delay	-	OMIM:615777
124583	CANT1	HP:0100864	Short femoral neck	-	OMIM:251450
124583	CANT1	HP:0100864	Short femoral neck	-	OMIM:143095
124583	CANT1	HP:0100864	Short femoral neck	1/1	OMIM:617719
124583	CANT1	HP:0006067	Multiple carpal ossification centers	-	OMIM:143095
124583	CANT1	HP:0006067	Multiple carpal ossification centers	-	OMIM:150250
124583	CANT1	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:143095
124583	CANT1	HP:0003883	Tapered humerus	3/16	OMIM:150250
124583	CANT1	HP:0001222	Spatulate thumbs	17/18	OMIM:150250
124583	CANT1	HP:0002515	Waddling gait	54/102	OMIM:131300
124583	CANT1	HP:0002515	Waddling gait	-	OMIM:143095
124583	CANT1	HP:0002515	Waddling gait	-	OMIM:251450
124583	CANT1	HP:0003828	Variable expressivity	-	OMIM:251450
124583	CANT1	HP:0003834	Shoulder dislocation	-	OMIM:143095
124583	CANT1	HP:0001371	Flexion contracture	-	OMIM:143095
124583	CANT1	HP:0001373	Joint dislocation	-	OMIM:251450
124583	CANT1	HP:0001373	Joint dislocation	-	OMIM:143095
124583	CANT1	HP:0001382	Joint hypermobility	7/7	OMIM:251450
124583	CANT1	HP:0001382	Joint hypermobility	-	OMIM:150250
124583	CANT1	HP:0001382	Joint hypermobility	-	OMIM:615777
124583	CANT1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:1425
124583	CANT1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
124583	CANT1	HP:0000028	Cryptorchidism	-	OMIM:150250
124583	CANT1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
124583	CANT1	HP:0008873	Disproportionate short-limb short stature	7/7	OMIM:251450
124583	CANT1	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:1425
124583	CANT1	HP:0003994	Dislocated wrist	-	OMIM:150250
124583	CANT1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
124583	CANT1	HP:0002656	Epiphyseal dysplasia	2/2	OMIM:617719
124583	CANT1	HP:0001324	Muscle weakness	40/96	OMIM:131300
124583	CANT1	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:143095
124583	CANT1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
124583	CANT1	HP:0002673	Coxa valga	-	OMIM:251450
124583	CANT1	HP:0002673	Coxa valga	HP:0040282	ORPHA:1425
124583	CANT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617719
124583	CANT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:143095
124583	CANT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
124583	CANT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:251450
124583	CANT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:150250
124583	CANT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
124583	CANT1	HP:0002650	Scoliosis	3/4	OMIM:251450
124583	CANT1	HP:0002650	Scoliosis	HP:0040282	ORPHA:1425
124583	CANT1	HP:0002650	Scoliosis	9/9	OMIM:143095
124583	CANT1	HP:0002650	Scoliosis	12/14	OMIM:131300
124583	CANT1	HP:0002650	Scoliosis	12/20	OMIM:150250
124583	CANT1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
124583	CANT1	HP:0002643	Neonatal respiratory distress	3/9	OMIM:251450
124583	CANT1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
124583	CANT1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
124583	CANT1	HP:0008905	Rhizomelia	-	OMIM:143095
124583	CANT1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
124583	CANT1	HP:6000868	Toe hyperphalangy	5/25	OMIM:251450
124583	CANT1	HP:0000160	Narrow mouth	-	OMIM:251450
124583	CANT1	HP:0000175	Cleft palate	3/20	OMIM:150250
124583	CANT1	HP:0000175	Cleft palate	2/7	OMIM:615777
124583	CANT1	HP:0007598	Bilateral single transverse palmar creases	-	OMIM:143095
124583	CANT1	HP:0006243	Phalangeal dislocation	-	OMIM:251450
124583	CANT1	HP:0002780	Bronchomalacia	-	OMIM:150250
124583	CANT1	HP:0002779	Tracheomalacia	-	OMIM:150250
124583	CANT1	HP:0002777	Tracheal stenosis	-	OMIM:150250
124583	CANT1	HP:0002758	Osteoarthritis	-	OMIM:251450
124583	CANT1	HP:0002751	Kyphoscoliosis	-	OMIM:143095
124583	CANT1	HP:0002750	Delayed skeletal maturation	-	OMIM:143095
124583	CANT1	HP:0003366	Abnormal femoral neck/head morphology	HP:0040281	ORPHA:1425
124583	CANT1	HP:0002007	Frontal bossing	-	OMIM:150250
124583	CANT1	HP:0003307	Hyperlordosis	4/4	OMIM:251450
124583	CANT1	HP:0003304	Spondylolysis	-	OMIM:150250
124583	CANT1	HP:0003301	Irregular vertebral endplates	-	OMIM:143095
124583	CANT1	HP:0011800	Midface retrusion	-	OMIM:251450
124583	CANT1	HP:0011800	Midface retrusion	19/20	OMIM:150250
124583	CANT1	HP:0002092	Pulmonary arterial hypertension	-	OMIM:143095
124583	CANT1	HP:0003388	Easy fatigability	36/76	OMIM:131300
124583	CANT1	HP:0010446	Tricuspid stenosis	-	OMIM:143095
124583	CANT1	HP:0009467	Radial deviation of the 2nd finger	6/7	OMIM:251450
124583	CANT1	HP:0008127	Bipartite calcaneus	-	OMIM:150250
124583	CANT1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
124583	CANT1	HP:0033102	Monkey wrench femoral neck	2/2	OMIM:617719
124583	CANT1	HP:0033102	Monkey wrench femoral neck	-	OMIM:251450
124583	CANT1	HP:0008108	Advanced tarsal ossification	-	OMIM:251450
124583	CANT1	HP:0003417	Coronal cleft vertebrae	-	OMIM:143095
124583	CANT1	HP:0009611	Bifid distal phalanx of the thumb	-	OMIM:251450
124583	CANT1	HP:0002194	Delayed gross motor development	-	OMIM:143095
124583	CANT1	HP:0002176	Spinal cord compression	-	OMIM:150250
124583	CANT1	HP:0100490	Camptodactyly of finger	-	OMIM:143095
124583	CANT1	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:1425
124583	CANT1	HP:0010585	Small epiphyses	9/9	OMIM:143095
124583	CANT1	HP:0003593	Infantile onset	9/9	OMIM:143095
124583	CANT1	HP:0003577	Congenital onset	6/6	OMIM:143095
124583	CANT1	HP:0003510	Severe short stature	7/7	OMIM:615777
124583	CANT1	HP:0003510	Severe short stature	-	OMIM:251450
124583	CANT1	HP:0003510	Severe short stature	HP:0040281	ORPHA:1425
124583	CANT1	HP:0003502	Mild short stature	2/2	OMIM:617719
124583	CANT1	HP:0002315	Headache	-	OMIM:131300
124583	CANT1	HP:0004976	Knee dislocation	16/20	OMIM:150250
124583	CANT1	HP:0004976	Knee dislocation	6/6	OMIM:143095
124583	CANT1	HP:0004976	Knee dislocation	6/7	OMIM:615777
124583	CANT1	HP:0009803	Short phalanx of finger	-	OMIM:143095
124583	CANT1	HP:0009803	Short phalanx of finger	-	OMIM:615777
124583	CANT1	HP:0001087	Developmental glaucoma	-	OMIM:251450
124583	CANT1	HP:0200055	Small hand	HP:0040282	ORPHA:1425
124583	CANT1	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:143095
124583	CANT1	HP:0009774	Triangular shaped phalanges of the hand	-	OMIM:251450
124583	CANT1	HP:0010743	Short metatarsal	-	OMIM:251450
124583	CANT1	HP:0010743	Short metatarsal	-	OMIM:150250
124583	CANT1	HP:0009763	Limb pain	63/92	OMIM:131300
124583	CANT1	HP:0008434	Hypoplastic cervical vertebrae	-	OMIM:150250
124583	CANT1	HP:0008422	Vertebral wedging	2/2	OMIM:617719
124583	CANT1	HP:0003621	Juvenile onset	-	OMIM:131300
124583	CANT1	HP:0004942	Aortic aneurysm	-	OMIM:150250
124583	CANT1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
124583	CANT1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:1425
124583	CANT1	HP:0010097	Partial duplication of the distal phalanx of the hallux	-	OMIM:251450
124583	CANT1	HP:0010068	Broad first metatarsal	-	OMIM:251450
124583	CANT1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
124583	CANT1	HP:0004233	Advanced ossification of carpal bones	1/1	OMIM:617719
124583	CANT1	HP:0004233	Advanced ossification of carpal bones	-	OMIM:251450
124583	CANT1	HP:0004232	Accessory carpal bones	-	OMIM:150250
124583	CANT1	HP:6001056	Out-toeing	-	OMIM:131300
124583	CANT1	HP:0000651	Diplopia	-	OMIM:131300
124583	CANT1	HP:0001956	Truncal obesity	2/7	OMIM:615777
124583	CANT1	HP:0001903	Anemia	HP:0040283	OMIM:131300
124583	CANT1	HP:0010049	Short metacarpal	-	OMIM:143095
124583	CANT1	HP:0010049	Short metacarpal	-	OMIM:615777
124583	CANT1	HP:0010049	Short metacarpal	-	OMIM:150250
124583	CANT1	HP:0010034	Short 1st metacarpal	-	OMIM:251450
124583	CANT1	HP:0000684	Delayed eruption of teeth	-	OMIM:143095
124583	CANT1	HP:0000678	Dental crowding	-	OMIM:615777
124583	CANT1	HP:0000691	Microdontia	-	OMIM:143095
124583	CANT1	HP:0000687	Widely spaced teeth	-	OMIM:143095
124583	CANT1	HP:0000670	Carious teeth	-	OMIM:131300
124583	CANT1	HP:0011304	Broad thumb	2/7	OMIM:615777
124583	CANT1	HP:0000668	Hypodontia	-	OMIM:615777
124583	CANT1	HP:0000668	Hypodontia	-	OMIM:150250
124583	CANT1	HP:0000664	Synophrys	-	OMIM:615777
124583	CANT1	HP:0004322	Short stature	15/15	OMIM:143095
124583	CANT1	HP:0004322	Short stature	14/20	OMIM:150250
124583	CANT1	HP:0005616	Accelerated skeletal maturation	HP:0040281	ORPHA:1425
124583	CANT1	HP:0003071	Flattened epiphysis	-	OMIM:143095
124583	CANT1	HP:0003071	Flattened epiphysis	-	OMIM:251450
124583	CANT1	HP:0003083	Dislocated radial head	6/6	OMIM:143095
124583	CANT1	HP:0004396	Poor appetite	-	OMIM:131300
124583	CANT1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
124583	CANT1	HP:0003031	Ulnar bowing	-	OMIM:143095
124583	CANT1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
124583	CANT1	HP:0003042	Elbow dislocation	-	OMIM:143095
124583	CANT1	HP:0003042	Elbow dislocation	HP:0040282	ORPHA:1425
124583	CANT1	HP:0003042	Elbow dislocation	13/20	OMIM:150250
124583	CANT1	HP:0003040	Arthropathy	-	OMIM:143095
124583	CANT1	HP:0003016	Metaphyseal widening	-	OMIM:251450
124583	CANT1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
124583	CANT1	HP:0003026	Short long bone	7/7	OMIM:615777
124583	CANT1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
124583	CANT1	HP:0003022	Hypoplasia of the ulna	-	OMIM:143095
124583	CANT1	HP:0000767	Pectus excavatum	-	OMIM:150250
124583	CANT1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
124583	CANT1	HP:0000768	Pectus carinatum	-	OMIM:150250
124583	CANT1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
124583	CANT1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
124583	CANT1	HP:0000750	Delayed speech and language development	-	OMIM:615777
124583	CANT1	HP:0009179	Deviation of the 5th finger	-	OMIM:143095
124583	CANT1	HP:0011461	Fetal onset	7/7	OMIM:615777
124583	CANT1	HP:0000774	Narrow chest	5/7	OMIM:251450
124583	CANT1	HP:0000774	Narrow chest	2/7	OMIM:615777
124583	CANT1	HP:0003196	Short nose	-	OMIM:251450
124583	CANT1	HP:0000914	Shield chest	-	OMIM:143095
124583	CANT1	HP:0000926	Platyspondyly	-	OMIM:251450
124583	CANT1	HP:0000926	Platyspondyly	1/7	OMIM:615777
124583	CANT1	HP:0000926	Platyspondyly	2/2	OMIM:617719
124583	CANT1	HP:0003184	Decreased hip abduction	-	OMIM:143095
124583	CANT1	HP:0003180	Flat acetabular roof	-	OMIM:615777
124583	CANT1	HP:0003180	Flat acetabular roof	2/2	OMIM:617719
124583	CANT1	HP:0003180	Flat acetabular roof	-	OMIM:251450
124583	CANT1	HP:0004482	Relative macrocephaly	-	OMIM:615777
124583	CANT1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
124583	CANT1	HP:0003093	Limited hip extension	9/9	OMIM:143095
124583	CANT1	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:143095
124583	CANT1	HP:0003090	Hypoplasia of the capital femoral epiphysis	2/2	OMIM:617719
124583	CANT1	HP:0000823	Delayed puberty	-	OMIM:131300
124583	CANT1	HP:0000894	Short clavicles	-	OMIM:615777
124583	CANT1	HP:0004568	Beaking of vertebral bodies	-	OMIM:150250
124583	CANT1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
124583	CANT1	HP:0003298	Spina bifida occulta	-	OMIM:150250
124583	CANT1	HP:0045075	Sparse eyebrow	-	OMIM:143095
124583	CANT1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:1425
124583	CANT1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
124583	CANT1	HP:0000939	Osteoporosis	-	OMIM:251450
124583	CANT1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:1425
124583	CANT1	HP:0008082	Medial deviation of the foot	-	OMIM:251450
124583	CANT1	HP:0008070	Sparse hair	HP:0040282	ORPHA:1425
124583	CANT1	HP:6000970	Diminished sulfotransferase activity in cultured fibroblasts	2/2	OMIM:143095
124583	CANT1	HP:0000286	Epicanthus	1/7	OMIM:615777
124583	CANT1	HP:0000280	Coarse facial features	2/7	OMIM:615777
124583	CANT1	HP:0001591	Bell-shaped thorax	HP:0040281	ORPHA:1425
124583	CANT1	HP:0000272	Malar flattening	7/7	OMIM:251450
124583	CANT1	HP:0000272	Malar flattening	-	OMIM:150250
124583	CANT1	HP:0006471	Fixed elbow flexion	-	OMIM:143095
124583	CANT1	HP:0006462	Generalized bone demineralization	-	OMIM:143095
124583	CANT1	HP:0006439	Radioulnar dislocation	-	OMIM:251450
124583	CANT1	HP:0006429	Broad femoral neck	-	OMIM:251450
124583	CANT1	HP:0002816	Genu recurvatum	3/6	OMIM:143095
124583	CANT1	HP:0002816	Genu recurvatum	HP:0040282	ORPHA:1425
124583	CANT1	HP:0002812	Coxa vara	-	OMIM:251450
124583	CANT1	HP:0002812	Coxa vara	HP:0040282	ORPHA:1425
124583	CANT1	HP:0002829	Arthralgia	-	OMIM:143095
124583	CANT1	HP:0002827	Hip dislocation	16/20	OMIM:150250
124583	CANT1	HP:0002827	Hip dislocation	3/7	OMIM:615777
124583	CANT1	HP:0002808	Kyphosis	-	OMIM:143095
124583	CANT1	HP:0002808	Kyphosis	-	OMIM:251450
124583	CANT1	HP:0005067	Proximal fibular overgrowth	-	OMIM:251450
124583	CANT1	HP:0000252	Microcephaly	-	OMIM:615777
124583	CANT1	HP:0001552	Barrel-shaped chest	-	OMIM:143095
124583	CANT1	HP:0000218	High palate	-	OMIM:143095
124583	CANT1	HP:0002857	Genu valgum	-	OMIM:131300
124583	CANT1	HP:0002857	Genu valgum	-	OMIM:143095
124583	CANT1	HP:0001533	Slender build	-	OMIM:131300
124583	CANT1	HP:0000204	Cleft upper lip	-	OMIM:150250
124583	CANT1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:251450
124583	CANT1	HP:0001511	Intrauterine growth retardation	-	OMIM:150250
124583	CANT1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
124583	CANT1	HP:0001510	Growth delay	2/2	OMIM:251450
124583	CANT1	HP:0001513	Obesity	4/4	OMIM:251450
124583	CANT1	HP:0007807	Optic nerve compression	-	OMIM:131300
124583	CANT1	HP:0012368	Flat face	7/7	OMIM:615777
124583	CANT1	HP:0012368	Flat face	-	OMIM:150250
124583	CANT1	HP:0002938	Lumbar hyperlordosis	-	OMIM:143095
124583	CANT1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
124583	CANT1	HP:0002948	Vertebral fusion	8/16	OMIM:150250
124583	CANT1	HP:0002947	Cervical kyphosis	-	OMIM:150250
124583	CANT1	HP:0002945	Intervertebral space narrowing	9/9	OMIM:143095
124583	CANT1	HP:0005180	Tricuspid regurgitation	-	OMIM:143095
124583	CANT1	HP:0000365	Hearing impairment	-	OMIM:143095
124583	CANT1	HP:0000365	Hearing impairment	10/67	OMIM:131300
124583	CANT1	HP:0000365	Hearing impairment	4/19	OMIM:150250
124583	CANT1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:1425
124583	CANT1	HP:0000343	Long philtrum	HP:0040282	OMIM:143095
124583	CANT1	HP:0000343	Long philtrum	4/7	OMIM:251450
124583	CANT1	HP:0000343	Long philtrum	1/7	OMIM:615777
124583	CANT1	HP:0011001	Increased bone mineral density	-	OMIM:131300
124583	CANT1	HP:0000337	Broad forehead	HP:0040282	OMIM:143095
124583	CANT1	HP:0002999	Patellar dislocation	HP:0040281	ORPHA:1425
124583	CANT1	HP:0002982	Tibial bowing	-	OMIM:143095
124583	CANT1	HP:0001650	Aortic valve stenosis	-	OMIM:143095
124583	CANT1	HP:0000319	Smooth philtrum	4/7	OMIM:251450
124583	CANT1	HP:0000316	Hypertelorism	-	OMIM:143095
124583	CANT1	HP:0000316	Hypertelorism	-	OMIM:150250
124583	CANT1	HP:0000311	Round face	2/7	OMIM:615777
124583	CANT1	HP:0000311	Round face	7/7	OMIM:251450
124583	CANT1	HP:0001642	Pulmonic stenosis	-	OMIM:143095
124583	CANT1	HP:0002974	Radioulnar synostosis	HP:0040282	ORPHA:1425
124583	CANT1	HP:0001659	Aortic regurgitation	-	OMIM:143095
124583	CANT1	HP:0001653	Mitral regurgitation	-	OMIM:143095
124583	CANT1	HP:0001629	Ventricular septal defect	-	OMIM:143095
124583	CANT1	HP:0001629	Ventricular septal defect	-	OMIM:150250
124583	CANT1	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:1425
124583	CANT1	HP:0001623	Breech presentation	3/6	OMIM:143095
124583	CANT1	HP:0002970	Genu varum	-	OMIM:251450
124583	CANT1	HP:0002970	Genu varum	-	OMIM:615777
124583	CANT1	HP:0002970	Genu varum	2/2	OMIM:617719
124583	CANT1	HP:0000308	Microretrognathia	7/7	OMIM:251450
124583	CANT1	HP:0002967	Cubitus valgus	-	OMIM:143095
124583	CANT1	HP:0001631	Atrial septal defect	-	OMIM:150250
124583	CANT1	HP:0000303	Mandibular prognathia	-	OMIM:131300
124583	CANT1	HP:0007957	Corneal opacity	-	OMIM:150250
124583	CANT1	HP:0006610	Wide intermamillary distance	-	OMIM:143095
124583	CANT1	HP:0000499	Abnormal eyelash morphology	HP:0040282	ORPHA:1425
124583	CANT1	HP:0000405	Conductive hearing impairment	-	OMIM:150250
124583	CANT1	HP:0001718	Mitral stenosis	-	OMIM:143095
124583	CANT1	HP:0001714	Ventricular hypertrophy	-	OMIM:143095
124583	CANT1	HP:0005280	Depressed nasal bridge	-	OMIM:251450
124583	CANT1	HP:0005280	Depressed nasal bridge	-	OMIM:150250
124583	CANT1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
124583	CANT1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:1425
124583	CANT1	HP:0000463	Anteverted nares	HP:0040281	ORPHA:1425
124583	CANT1	HP:0011120	Concave nasal ridge	5/7	OMIM:251450
124583	CANT1	HP:0000470	Short neck	-	OMIM:143095
124583	CANT1	HP:0000470	Short neck	6/7	OMIM:251450
124583	CANT1	HP:0000470	Short neck	1/7	OMIM:615777
124583	CANT1	HP:0000470	Short neck	HP:0040281	ORPHA:1425
124583	CANT1	HP:0001799	Short nail	-	OMIM:150250
124583	CANT1	HP:0001772	Talipes equinovalgus	-	OMIM:150250
124583	CANT1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
124583	CANT1	HP:0001763	Pes planus	-	OMIM:143095
124583	CANT1	HP:0001763	Pes planus	-	OMIM:251450
124583	CANT1	HP:0001763	Pes planus	1/7	OMIM:615777
124583	CANT1	HP:0001762	Talipes equinovarus	6/6	OMIM:143095
124583	CANT1	HP:0001762	Talipes equinovarus	-	OMIM:251450
124583	CANT1	HP:0001762	Talipes equinovarus	15/20	OMIM:150250
124583	CANT1	HP:0001840	Metatarsus adductus	-	OMIM:615777
124583	CANT1	HP:0001852	Sandal gap	-	OMIM:251450
124583	CANT1	HP:0000520	Proptosis	2/4	OMIM:131300
124583	CANT1	HP:0000520	Proptosis	-	OMIM:251450
124583	CANT1	HP:0000520	Proptosis	7/7	OMIM:615777
124583	CANT1	HP:0000520	Proptosis	HP:0040281	ORPHA:1425
124583	CANT1	HP:0000501	Glaucoma	HP:0040281	ORPHA:1425
124583	CANT1	HP:0000592	Blue sclerae	2/7	OMIM:615777
124583	CANT1	HP:0000592	Blue sclerae	HP:0040282	ORPHA:1425
124583	CANT1	HP:0000586	Shallow orbits	-	OMIM:150250
124583	CANT1	HP:0011220	Prominent forehead	-	OMIM:150250
124583	CANT1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
124583	CANT1	HP:0012514	Lower limb pain	4/4	OMIM:131300
124583	CANT1	HP:0000545	Myopia	-	OMIM:251450
124590	USH1G	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
124590	USH1G	HP:0001251	Ataxia	HP:0040281	ORPHA:231169
124590	USH1G	HP:0001249	Intellectual disability	HP:0040281	ORPHA:231169
124590	USH1G	HP:0001263	Global developmental delay	HP:0040281	ORPHA:231169
124590	USH1G	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040282	ORPHA:231169
124590	USH1G	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
124590	USH1G	HP:0000007	Autosomal recessive inheritance	-	OMIM:606943
124590	USH1G	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
124590	USH1G	HP:0012157	Subcortical cerebral atrophy	HP:0040283	ORPHA:231169
124590	USH1G	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
124590	USH1G	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
124590	USH1G	HP:0004646	Hypoplasia of the nasal bone	-	OMIM:606943
124590	USH1G	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:231169
124590	USH1G	HP:0100753	Schizophrenia	HP:0040282	ORPHA:231169
124590	USH1G	HP:0008499	High hypermetropia	HP:0040282	ORPHA:231169
124590	USH1G	HP:0003621	Juvenile onset	8/19	OMIM:180100
124590	USH1G	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:231169
124590	USH1G	HP:0000662	Nyctalopia	26/28	OMIM:180100
124590	USH1G	HP:0000662	Nyctalopia	HP:0040281	ORPHA:231169
124590	USH1G	HP:0000738	Hallucinations	HP:0040283	ORPHA:231169
124590	USH1G	HP:0000739	Anxiety	HP:0040283	ORPHA:231169
124590	USH1G	HP:0000716	Depression	HP:0040283	ORPHA:231169
124590	USH1G	HP:0011463	Childhood onset	3/19	OMIM:180100
124590	USH1G	HP:0011462	Young adult onset	8/19	OMIM:180100
124590	USH1G	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
124590	USH1G	HP:0007730	Iris hypopigmentation	HP:0040281	ORPHA:231169
124590	USH1G	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
124590	USH1G	HP:0012377	Hemianopia	HP:0040281	ORPHA:231169
124590	USH1G	HP:0000375	Abnormal cochlea morphology	HP:0040281	ORPHA:231169
124590	USH1G	HP:0000407	Sensorineural hearing impairment	-	OMIM:606943
124590	USH1G	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:231169
124590	USH1G	HP:0001751	Abnormal vestibular function	-	OMIM:606943
124590	USH1G	HP:0001756	Vestibular hyporeflexia	HP:0040281	ORPHA:231169
124590	USH1G	HP:0000518	Cataract	HP:0040282	ORPHA:231169
124590	USH1G	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
124590	USH1G	HP:0000510	Rod-cone dystrophy	-	OMIM:606943
124590	USH1G	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:231169
124590	USH1G	HP:0000575	Scotoma	HP:0040281	ORPHA:231169
124590	USH1G	HP:0000575	Scotoma	5/18	OMIM:180100
124590	USH1G	HP:0000572	Visual loss	HP:0040281	ORPHA:231169
124590	USH1G	HP:0000543	Optic disc pallor	1/1	OMIM:180100
124590	USH1G	HP:0000545	Myopia	-	OMIM:180100
124842	TMEM132E	HP:0000007	Autosomal recessive inheritance	-	OMIM:618481
124842	TMEM132E	HP:0003577	Congenital onset	2/2	OMIM:618481
124842	TMEM132E	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:618481
124842	TMEM132E	HP:0001751	Abnormal vestibular function	2/2	OMIM:618481
124976	SPNS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618457
124976	SPNS2	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:618457
124997	WDR81	HP:0010864	Intellectual disability, severe	-	OMIM:610185
124997	WDR81	HP:0001272	Cerebellar atrophy	2/2	OMIM:610185
124997	WDR81	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1766
124997	WDR81	HP:0001250	Seizure	HP:0040282	ORPHA:1766
124997	WDR81	HP:0001252	Hypotonia	HP:0040281	ORPHA:1766
124997	WDR81	HP:0001251	Ataxia	1/2	OMIM:610185
124997	WDR81	HP:0001251	Ataxia	HP:0040281	ORPHA:1766
124997	WDR81	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1766
124997	WDR81	HP:0001265	Hyporeflexia	-	OMIM:610185
124997	WDR81	HP:0001260	Dysarthria	-	OMIM:610185
124997	WDR81	HP:0001263	Global developmental delay	2/2	OMIM:610185
124997	WDR81	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:1766
124997	WDR81	HP:0001360	Holoprosencephaly	1/5	OMIM:617967
124997	WDR81	HP:0000007	Autosomal recessive inheritance	-	OMIM:610185
124997	WDR81	HP:0000007	Autosomal recessive inheritance	-	OMIM:617967
124997	WDR81	HP:0001337	Tremor	-	OMIM:610185
124997	WDR81	HP:0001310	Dysmetria	-	OMIM:610185
124997	WDR81	HP:0001305	Dandy-Walker malformation	1/5	OMIM:617967
124997	WDR81	HP:0001321	Cerebellar hypoplasia	-	OMIM:610185
124997	WDR81	HP:0001321	Cerebellar hypoplasia	1/5	OMIM:617967
124997	WDR81	HP:0005989	Redundant neck skin	1/5	OMIM:617967
124997	WDR81	HP:0002080	Intention tremor	1/2	OMIM:610185
124997	WDR81	HP:0002066	Gait ataxia	1/2	OMIM:610185
124997	WDR81	HP:0002078	Truncal ataxia	-	OMIM:610185
124997	WDR81	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:610185
124997	WDR81	HP:0002075	Dysdiadochokinesis	-	OMIM:610185
124997	WDR81	HP:0002119	Ventriculomegaly	1/5	OMIM:617967
124997	WDR81	HP:0002136	Broad-based gait	1/2	OMIM:610185
124997	WDR81	HP:0003593	Infantile onset	2/2	OMIM:610185
124997	WDR81	HP:0003577	Congenital onset	-	OMIM:617967
124997	WDR81	HP:0002283	Global brain atrophy	-	OMIM:610185
124997	WDR81	HP:0007047	Atrophy of the dentate nucleus	-	OMIM:610185
124997	WDR81	HP:0007063	Aplasia of the inferior half of the cerebellar vermis	-	OMIM:610185
124997	WDR81	HP:0001007	Hirsutism	-	OMIM:610185
124997	WDR81	HP:0002324	Hydranencephaly	1/5	OMIM:617967
124997	WDR81	HP:0200055	Small hand	-	OMIM:610185
124997	WDR81	HP:0004279	Short palm	-	OMIM:610185
124997	WDR81	HP:0006887	Intellectual disability, progressive	-	OMIM:610185
124997	WDR81	HP:0012642	Cerebellar agenesis	2/5	OMIM:617967
124997	WDR81	HP:0001999	Abnormal facial shape	-	OMIM:617967
124997	WDR81	HP:0004322	Short stature	-	OMIM:610185
124997	WDR81	HP:0004322	Short stature	HP:0040282	ORPHA:1766
124997	WDR81	HP:0031936	Delayed ability to walk	1/2	OMIM:610185
124997	WDR81	HP:0100021	Cerebral palsy	HP:0040282	ORPHA:1766
124997	WDR81	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:1766
124997	WDR81	HP:0000750	Delayed speech and language development	-	OMIM:610185
124997	WDR81	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:1766
124997	WDR81	HP:0000280	Coarse facial features	-	OMIM:610185
124997	WDR81	HP:0000238	Hydrocephalus	4/5	OMIM:617967
124997	WDR81	HP:0001561	Polyhydramnios	1/5	OMIM:617967
124997	WDR81	HP:0002942	Thoracic kyphosis	-	OMIM:610185
124997	WDR81	HP:0002943	Thoracic scoliosis	-	OMIM:610185
124997	WDR81	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:610185
124997	WDR81	HP:0000486	Strabismus	-	OMIM:610185
124997	WDR81	HP:0000486	Strabismus	HP:0040282	ORPHA:1766
124997	WDR81	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:1766
124997	WDR81	HP:0000464	Abnormality of the neck	-	OMIM:610185
124997	WDR81	HP:0012444	Brain atrophy	-	OMIM:617967
124997	WDR81	HP:0001773	Short foot	-	OMIM:610185
124997	WDR81	HP:0000518	Cataract	HP:0040283	ORPHA:1766
124997	WDR81	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1766
125150	ZSWIM7	HP:0001166	Arachnodactyly	HP:0040284	ORPHA:243
125150	ZSWIM7	HP:0009888	Abnormality of secondary sexual hair	HP:0040281	ORPHA:243
125150	ZSWIM7	HP:0001251	Ataxia	HP:0040284	ORPHA:243
125150	ZSWIM7	HP:0008724	Hypoplasia of the ovary	1/2	OMIM:619834
125150	ZSWIM7	HP:0008684	Aplasia/hypoplasia of the uterus	HP:0040282	ORPHA:243
125150	ZSWIM7	HP:0000062	Ambiguous genitalia	-	ORPHA:243
125150	ZSWIM7	HP:0000007	Autosomal recessive inheritance	-	OMIM:619831
125150	ZSWIM7	HP:0000007	Autosomal recessive inheritance	-	OMIM:619834
125150	ZSWIM7	HP:0000144	Decreased fertility	HP:0040281	ORPHA:243
125150	ZSWIM7	HP:0000133	Gonadal dysgenesis	HP:0040280	ORPHA:243
125150	ZSWIM7	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:243
125150	ZSWIM7	HP:0010464	Streak ovary	1/2	OMIM:619834
125150	ZSWIM7	HP:0010464	Streak ovary	HP:0040282	ORPHA:243
125150	ZSWIM7	HP:0008232	Elevated circulating follicle stimulating hormone level	2/2	OMIM:619834
125150	ZSWIM7	HP:0008209	Premature ovarian insufficiency	2/2	OMIM:619834
125150	ZSWIM7	HP:0008209	Premature ovarian insufficiency	HP:0040280	ORPHA:243
125150	ZSWIM7	HP:0008214	Decreased serum estradiol	2/2	OMIM:619834
125150	ZSWIM7	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:243
125150	ZSWIM7	HP:0002225	Sparse pubic hair	HP:0040282	ORPHA:243
125150	ZSWIM7	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:243
125150	ZSWIM7	HP:0011969	Elevated circulating luteinizing hormone level	2/2	OMIM:619834
125150	ZSWIM7	HP:0011961	Non-obstructive azoospermia	4/4	OMIM:619831
125150	ZSWIM7	HP:0003621	Juvenile onset	2/2	OMIM:619834
125150	ZSWIM7	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040283	ORPHA:243
125150	ZSWIM7	HP:0004322	Short stature	HP:0040283	ORPHA:243
125150	ZSWIM7	HP:0005625	Osteoporosis of vertebrae	HP:0040282	ORPHA:243
125150	ZSWIM7	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:243
125150	ZSWIM7	HP:0011462	Young adult onset	4/4	OMIM:619831
125150	ZSWIM7	HP:0000786	Primary amenorrhea	2/2	OMIM:619834
125150	ZSWIM7	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:243
125150	ZSWIM7	HP:0034299	Sertoli cell-only phenotype	2/2	OMIM:619831
125150	ZSWIM7	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:243
125150	ZSWIM7	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:243
125150	ZSWIM7	HP:0000823	Delayed puberty	2/2	OMIM:619834
125150	ZSWIM7	HP:0000823	Delayed puberty	HP:0040281	ORPHA:243
125150	ZSWIM7	HP:0003251	Male infertility	4/4	OMIM:619831
125150	ZSWIM7	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:243
125150	ZSWIM7	HP:0000938	Osteopenia	HP:0040282	ORPHA:243
125150	ZSWIM7	HP:0000252	Microcephaly	HP:0040284	ORPHA:243
125150	ZSWIM7	HP:0000365	Hearing impairment	HP:0040283	ORPHA:243
125170	MIEF2	HP:0001288	Gait disturbance	1/1	OMIM:619024
125170	MIEF2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619024
125170	MIEF2	HP:0003326	Myalgia	1/1	OMIM:619024
125170	MIEF2	HP:0003323	Progressive muscle weakness	1/1	OMIM:619024
125170	MIEF2	HP:0011924	Decreased activity of mitochondrial complex III	1/1	OMIM:619024
125170	MIEF2	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:619024
125170	MIEF2	HP:0003551	Difficulty climbing stairs	1/1	OMIM:619024
125170	MIEF2	HP:0003546	Exercise intolerance	1/1	OMIM:619024
125170	MIEF2	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:619024
125170	MIEF2	HP:0008314	Decreased activity of mitochondrial complex II	1/1	OMIM:619024
125170	MIEF2	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1/1	OMIM:619024
125170	MIEF2	HP:0003621	Juvenile onset	1/1	OMIM:619024
125170	MIEF2	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:619024
125170	MIEF2	HP:0003200	Ragged-red muscle fibers	1/1	OMIM:619024
125336	LOXHD1	HP:0008619	Bilateral sensorineural hearing impairment	7/7	OMIM:613079
125336	LOXHD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613079
125336	LOXHD1	HP:0000360	Tinnitus	0/7	OMIM:613079
125336	LOXHD1	HP:0001751	Abnormal vestibular function	0/7	OMIM:613079
125988	MICOS13	HP:0002421	Poor head control	1/1	OMIM:618329
125988	MICOS13	HP:0001290	Generalized hypotonia	2/4	OMIM:618329
125988	MICOS13	HP:0001272	Cerebellar atrophy	4/4	OMIM:618329
125988	MICOS13	HP:0001288	Gait disturbance	HP:0040283	ORPHA:67047
125988	MICOS13	HP:0001252	Hypotonia	1/1	OMIM:618329
125988	MICOS13	HP:0001251	Ataxia	HP:0040282	ORPHA:67047
125988	MICOS13	HP:0001249	Intellectual disability	HP:0040282	ORPHA:67047
125988	MICOS13	HP:0001266	Choreoathetosis	HP:0040281	ORPHA:67047
125988	MICOS13	HP:0001260	Dysarthria	HP:0040282	ORPHA:67047
125988	MICOS13	HP:0001263	Global developmental delay	3/3	OMIM:618329
125988	MICOS13	HP:0001257	Spasticity	1/2	OMIM:618329
125988	MICOS13	HP:0001347	Hyperreflexia	2/2	OMIM:618329
125988	MICOS13	HP:0000007	Autosomal recessive inheritance	-	OMIM:618329
125988	MICOS13	HP:0001321	Cerebellar hypoplasia	1/1	OMIM:618329
125988	MICOS13	HP:0008936	Axial hypotonia	1/2	OMIM:618329
125988	MICOS13	HP:0001410	Decreased liver function	2/2	OMIM:618329
125988	MICOS13	HP:0001408	Bile duct proliferation	2/2	OMIM:618329
125988	MICOS13	HP:0001403	Macrovesicular hepatic steatosis	2/2	OMIM:618329
125988	MICOS13	HP:0003348	Hyperalaninemia	2/2	OMIM:618329
125988	MICOS13	HP:0002093	Respiratory insufficiency	1/1	OMIM:618329
125988	MICOS13	HP:0030948	Elevated gamma-glutamyltransferase level	2/2	OMIM:618329
125988	MICOS13	HP:0002045	Hypothermia	2/2	OMIM:618329
125988	MICOS13	HP:0008151	Prolonged prothrombin time	2/2	OMIM:618329
125988	MICOS13	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:618329
125988	MICOS13	HP:0003593	Infantile onset	2/2	OMIM:618329
125988	MICOS13	HP:0003577	Congenital onset	2/2	OMIM:618329
125988	MICOS13	HP:0003535	3-Methylglutaconic aciduria	5/5	OMIM:618329
125988	MICOS13	HP:0003535	3-Methylglutaconic aciduria	HP:0040281	ORPHA:67047
125988	MICOS13	HP:0011968	Feeding difficulties	2/2	OMIM:618329
125988	MICOS13	HP:0002344	Progressive neurologic deterioration	1/1	OMIM:618329
125988	MICOS13	HP:0003676	Progressive	-	OMIM:618329
125988	MICOS13	HP:0002313	Spastic paraparesis	HP:0040282	ORPHA:67047
125988	MICOS13	HP:0000639	Nystagmus	HP:0040282	ORPHA:67047
125988	MICOS13	HP:0000648	Optic atrophy	3/3	OMIM:618329
125988	MICOS13	HP:0001943	Hypoglycemia	3/3	OMIM:618329
125988	MICOS13	HP:0003073	Hypoalbuminemia	1/1	OMIM:618329
125988	MICOS13	HP:0003128	Lactic acidosis	3/3	OMIM:618329
125988	MICOS13	HP:0000817	Reduced eye contact	3/3	OMIM:618329
125988	MICOS13	HP:0040031	Chorioretinal hyperpigmentation	1/1	OMIM:618329
125988	MICOS13	HP:0002878	Respiratory failure	1/1	OMIM:618329
125988	MICOS13	HP:0001508	Failure to thrive	2/2	OMIM:618329
125988	MICOS13	HP:0002910	Elevated circulating hepatic transaminase concentration	3/3	OMIM:618329
125988	MICOS13	HP:0032794	Myoclonic seizure	1/2	OMIM:618329
125988	MICOS13	HP:0001639	Hypertrophic cardiomyopathy	1/2	OMIM:618329
125988	MICOS13	HP:0032988	Persistent head lag	2/2	OMIM:618329
125988	MICOS13	HP:0000407	Sensorineural hearing impairment	2/3	OMIM:618329
125988	MICOS13	HP:0005484	Secondary microcephaly	3/4	OMIM:618329
125988	MICOS13	HP:0000505	Visual impairment	2/2	OMIM:618329
125988	MICOS13	HP:0000505	Visual impairment	HP:0040281	ORPHA:67047
126129	CPT1C	HP:0003701	Proximal muscle weakness	6/6	OMIM:616282
126129	CPT1C	HP:0001288	Gait disturbance	6/6	OMIM:616282
126129	CPT1C	HP:0001288	Gait disturbance	HP:0040282	ORPHA:444099
126129	CPT1C	HP:0001250	Seizure	-	ORPHA:444099
126129	CPT1C	HP:0001258	Spastic paraplegia	6/6	OMIM:616282
126129	CPT1C	HP:0000020	Urinary incontinence	HP:0040282	ORPHA:444099
126129	CPT1C	HP:0001347	Hyperreflexia	6/6	OMIM:616282
126129	CPT1C	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:444099
126129	CPT1C	HP:0000012	Urinary urgency	HP:0040282	ORPHA:444099
126129	CPT1C	HP:0000006	Autosomal dominant inheritance	-	OMIM:616282
126129	CPT1C	HP:0008944	Distal lower limb amyotrophy	HP:0040282	ORPHA:444099
126129	CPT1C	HP:0002064	Spastic gait	HP:0040281	ORPHA:444099
126129	CPT1C	HP:0002061	Lower limb spasticity	HP:0040281	ORPHA:444099
126129	CPT1C	HP:0003487	Babinski sign	6/6	OMIM:616282
126129	CPT1C	HP:0003487	Babinski sign	HP:0040281	ORPHA:444099
126129	CPT1C	HP:0003457	EMG abnormality	HP:0040282	ORPHA:444099
126129	CPT1C	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:444099
126129	CPT1C	HP:0003581	Adult onset	6/6	OMIM:616282
126129	CPT1C	HP:0007020	Progressive spastic paraplegia	HP:0040281	ORPHA:444099
126129	CPT1C	HP:0003677	Slowly progressive	-	OMIM:616282
126129	CPT1C	HP:0002314	Degeneration of the lateral corticospinal tracts	HP:0040281	ORPHA:444099
126129	CPT1C	HP:0007199	Progressive spastic paraparesis	HP:0040282	ORPHA:444099
126129	CPT1C	HP:0006886	Impaired distal vibration sensation	6/6	OMIM:616282
126129	CPT1C	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:444099
126129	CPT1C	HP:0000726	Dementia	-	ORPHA:444099
126129	CPT1C	HP:0012898	Abnormal lower-limb motor evoked potentials	HP:0040282	ORPHA:444099
126129	CPT1C	HP:0003202	Skeletal muscle atrophy	6/6	OMIM:616282
126129	CPT1C	HP:0034397	Claw toe deformity	2/5	OMIM:616282
126129	CPT1C	HP:0034399	Prolonged central motor conduction time	6/6	OMIM:616282
126129	CPT1C	HP:0002921	Abnormal cerebrospinal fluid morphology	-	ORPHA:444099
126129	CPT1C	HP:0001761	Pes cavus	HP:0040283	ORPHA:444099
126206	NLRP5	HP:0000007	Autosomal recessive inheritance	-	OMIM:620333
126206	NLRP5	HP:0008222	Female infertility	3/3	OMIM:620333
126206	NLRP5	HP:0011462	Young adult onset	3/3	OMIM:620333
126326	GIPC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:601869
126326	GIPC3	HP:0000399	Prelingual sensorineural hearing impairment	2/2	OMIM:601869
126326	GIPC3	HP:0000407	Sensorineural hearing impairment	17/17	OMIM:601869
126326	GIPC3	HP:0001751	Abnormal vestibular function	0/17	OMIM:601869
126326	GIPC3	HP:0000505	Visual impairment	0/17	OMIM:601869
126328	NDUFA11	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
126328	NDUFA11	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0001298	Encephalopathy	-	OMIM:618236
126328	NDUFA11	HP:0001290	Generalized hypotonia	3/7	OMIM:618236
126328	NDUFA11	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0001250	Seizure	1/7	OMIM:618236
126328	NDUFA11	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0001263	Global developmental delay	4/4	OMIM:618236
126328	NDUFA11	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0000007	Autosomal recessive inheritance	-	OMIM:618236
126328	NDUFA11	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0002151	Increased circulating lactate concentration	7/7	OMIM:618236
126328	NDUFA11	HP:0002104	Apnea	3/7	OMIM:618236
126328	NDUFA11	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
126328	NDUFA11	HP:0011923	Decreased activity of mitochondrial complex I	4/4	OMIM:618236
126328	NDUFA11	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0200128	Biventricular hypertrophy	3/3	OMIM:618236
126328	NDUFA11	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
126328	NDUFA11	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0003623	Neonatal onset	7/7	OMIM:618236
126328	NDUFA11	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0000639	Nystagmus	1/7	OMIM:618236
126328	NDUFA11	HP:0000648	Optic atrophy	1/7	OMIM:618236
126328	NDUFA11	HP:0000618	Blindness	HP:0040283	ORPHA:2609
126328	NDUFA11	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0003198	Myopathy	-	OMIM:618236
126328	NDUFA11	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0003128	Lactic acidosis	7/7	OMIM:618236
126328	NDUFA11	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
126328	NDUFA11	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
126328	NDUFA11	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0001639	Hypertrophic cardiomyopathy	7/7	OMIM:618236
126328	NDUFA11	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0012444	Brain atrophy	2/2	OMIM:618236
126328	NDUFA11	HP:0005484	Secondary microcephaly	4/7	OMIM:618236
126328	NDUFA11	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
126328	NDUFA11	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
126410	CYP4F22	HP:0100806	Sepsis	HP:0040283	ORPHA:313
126410	CYP4F22	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:313
126410	CYP4F22	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:313
126410	CYP4F22	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	2/5	OMIM:604777
126410	CYP4F22	HP:0000007	Autosomal recessive inheritance	-	OMIM:604777
126410	CYP4F22	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:313
126410	CYP4F22	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:313
126410	CYP4F22	HP:0033252	Palmar hyperlinearity	15/15	OMIM:604777
126410	CYP4F22	HP:0003577	Congenital onset	5/5	OMIM:604777
126410	CYP4F22	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:313
126410	CYP4F22	HP:0100758	Gangrene	HP:0040283	ORPHA:313
126410	CYP4F22	HP:0001036	Parakeratosis	-	OMIM:604777
126410	CYP4F22	HP:0001019	Erythroderma	HP:0040283	OMIM:604777
126410	CYP4F22	HP:0001019	Erythroderma	HP:0040281	ORPHA:313
126410	CYP4F22	HP:0025092	Epidermal acanthosis	-	OMIM:604777
126410	CYP4F22	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:313
126410	CYP4F22	HP:0001944	Dehydration	HP:0040283	ORPHA:313
126410	CYP4F22	HP:0001927	Acanthocytosis	-	OMIM:604777
126410	CYP4F22	HP:0000656	Ectropion	HP:0040281	ORPHA:313
126410	CYP4F22	HP:0004322	Short stature	HP:0040283	ORPHA:313
126410	CYP4F22	HP:0000989	Pruritus	HP:0040281	ORPHA:313
126410	CYP4F22	HP:0000982	Palmoplantar keratoderma	HP:0040283	OMIM:604777
126410	CYP4F22	HP:0000958	Dry skin	HP:0040281	ORPHA:313
126410	CYP4F22	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:313
126410	CYP4F22	HP:0040162	Orthokeratosis	HP:0040283	OMIM:604777
126410	CYP4F22	HP:0008070	Sparse hair	HP:0040281	ORPHA:313
126410	CYP4F22	HP:0008064	Ichthyosis	HP:0040281	ORPHA:313
126410	CYP4F22	HP:0040190	White scaling skin	5/5	OMIM:604777
126410	CYP4F22	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:313
126410	CYP4F22	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:313
126410	CYP4F22	HP:0011039	Abnormal helix morphology	HP:0040282	ORPHA:313
126410	CYP4F22	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:313
126695	KDF1	HP:0009886	Trichorrhexis nodosa	1/6	OMIM:617337
126695	KDF1	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:1810
126695	KDF1	HP:0007387	Hypoplastic sweat glands	1/1	OMIM:617337
126695	KDF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:617337
126695	KDF1	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:1810
126695	KDF1	HP:0000175	Cleft palate	1/6	OMIM:617337
126695	KDF1	HP:0006323	Premature loss of primary teeth	HP:0040281	ORPHA:1810
126695	KDF1	HP:0032541	Knuckle pad	2/6	OMIM:617337
126695	KDF1	HP:0002047	Malignant hyperthermia	HP:0040283	ORPHA:1810
126695	KDF1	HP:0033252	Palmar hyperlinearity	6/6	OMIM:617337
126695	KDF1	HP:0002231	Sparse body hair	HP:0040281	ORPHA:1810
126695	KDF1	HP:0008404	Nail dystrophy	5/6	OMIM:617337
126695	KDF1	HP:0008392	Subungual hyperkeratosis	3/6	OMIM:617337
126695	KDF1	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:1810
126695	KDF1	HP:0032152	Keratosis pilaris	5/6	OMIM:617337
126695	KDF1	HP:0000695	Natal tooth	1/6	OMIM:617337
126695	KDF1	HP:0000668	Hypodontia	HP:0040281	ORPHA:1810
126695	KDF1	HP:0004552	Scarring alopecia of scalp	1/6	OMIM:617337
126695	KDF1	HP:0000964	Eczematoid dermatitis	3/6	OMIM:617337
126695	KDF1	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:1810
126695	KDF1	HP:0000966	Hypohidrosis	6/6	OMIM:617337
126695	KDF1	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:1810
126695	KDF1	HP:0000963	Thin skin	HP:0040281	ORPHA:1810
126695	KDF1	HP:0040162	Orthokeratosis	1/1	OMIM:617337
126695	KDF1	HP:0008070	Sparse hair	HP:0040281	ORPHA:1810
126695	KDF1	HP:0040154	Acne inversa	6/6	OMIM:617337
126695	KDF1	HP:0006482	Abnormal dental morphology	HP:0040281	ORPHA:1810
126695	KDF1	HP:0000322	Short philtrum	3/6	OMIM:617337
126695	KDF1	HP:0005338	Sparse lateral eyebrow	6/6	OMIM:617337
126695	KDF1	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:1810
126695	KDF1	HP:0011120	Concave nasal ridge	1/1	OMIM:617337
126695	KDF1	HP:0000457	Depressed nasal ridge	HP:0040283	ORPHA:1810
126695	KDF1	HP:0011220	Prominent forehead	HP:0040283	ORPHA:1810
126792	B3GALT6	HP:0001181	Adducted thumb	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0001156	Brachydactyly	-	OMIM:143095
126792	B3GALT6	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0009882	Short distal phalanx of finger	-	OMIM:143095
126792	B3GALT6	HP:0008551	Microtia	-	OMIM:143095
126792	B3GALT6	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
126792	B3GALT6	HP:0001297	Stroke	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0001293	Cranial nerve compression	-	OMIM:131300
126792	B3GALT6	HP:0001270	Motor delay	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0001270	Motor delay	5/10	OMIM:615349
126792	B3GALT6	HP:0001256	Intellectual disability, mild	-	OMIM:259770
126792	B3GALT6	HP:0001250	Seizure	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0001252	Hypotonia	1/7	OMIM:271640
126792	B3GALT6	HP:0001252	Hypotonia	-	OMIM:259770
126792	B3GALT6	HP:0001252	Hypotonia	2/7	OMIM:615777
126792	B3GALT6	HP:0001252	Hypotonia	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0001252	Hypotonia	9/14	OMIM:615349
126792	B3GALT6	HP:0001249	Intellectual disability	0/9	OMIM:143095
126792	B3GALT6	HP:0001249	Intellectual disability	3/20	OMIM:150250
126792	B3GALT6	HP:0001249	Intellectual disability	5/7	OMIM:615777
126792	B3GALT6	HP:0001263	Global developmental delay	1/1	OMIM:612394
126792	B3GALT6	HP:0001263	Global developmental delay	-	OMIM:615777
126792	B3GALT6	HP:0001263	Global developmental delay	5/10	OMIM:615349
126792	B3GALT6	HP:0001239	Wrist flexion contracture	1/1	OMIM:609465
126792	B3GALT6	HP:0100864	Short femoral neck	-	OMIM:271640
126792	B3GALT6	HP:0100864	Short femoral neck	-	OMIM:143095
126792	B3GALT6	HP:0006067	Multiple carpal ossification centers	-	OMIM:143095
126792	B3GALT6	HP:0006067	Multiple carpal ossification centers	-	OMIM:150250
126792	B3GALT6	HP:0003865	Bowed humerus	1/1	OMIM:609465
126792	B3GALT6	HP:0002553	Highly arched eyebrow	HP:0040282	OMIM:143095
126792	B3GALT6	HP:0003883	Tapered humerus	3/16	OMIM:150250
126792	B3GALT6	HP:0001222	Spatulate thumbs	3/4	OMIM:615349
126792	B3GALT6	HP:0001222	Spatulate thumbs	17/18	OMIM:150250
126792	B3GALT6	HP:0001222	Spatulate thumbs	3/6	OMIM:271640
126792	B3GALT6	HP:0002515	Waddling gait	54/102	OMIM:131300
126792	B3GALT6	HP:0002515	Waddling gait	-	OMIM:143095
126792	B3GALT6	HP:0003834	Shoulder dislocation	-	OMIM:143095
126792	B3GALT6	HP:0006094	Finger joint hypermobility	4/4	OMIM:615349
126792	B3GALT6	HP:0006094	Finger joint hypermobility	2/5	OMIM:271640
126792	B3GALT6	HP:0008807	Acetabular dysplasia	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0001371	Flexion contracture	-	OMIM:143095
126792	B3GALT6	HP:0001371	Flexion contracture	-	OMIM:271640
126792	B3GALT6	HP:0001373	Joint dislocation	-	OMIM:143095
126792	B3GALT6	HP:0001385	Hip dysplasia	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0001385	Hip dysplasia	4/10	OMIM:615349
126792	B3GALT6	HP:0001382	Joint hypermobility	-	OMIM:259770
126792	B3GALT6	HP:0001382	Joint hypermobility	-	OMIM:271640
126792	B3GALT6	HP:0001382	Joint hypermobility	-	OMIM:150250
126792	B3GALT6	HP:0001382	Joint hypermobility	-	OMIM:615777
126792	B3GALT6	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0001382	Joint hypermobility	10/10	OMIM:615349
126792	B3GALT6	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
126792	B3GALT6	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0002694	Sclerosis of skull base	-	OMIM:131300
126792	B3GALT6	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0000028	Cryptorchidism	-	OMIM:150250
126792	B3GALT6	HP:0008897	Postnatal growth retardation	-	OMIM:615777
126792	B3GALT6	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
126792	B3GALT6	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0008828	Delayed proximal femoral epiphyseal ossification	-	OMIM:271640
126792	B3GALT6	HP:0012095	Multiple joint dislocation	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0008818	Large iliac wing	5/5	OMIM:271640
126792	B3GALT6	HP:0008824	Hypoplastic iliac body	4/4	OMIM:615349
126792	B3GALT6	HP:0008824	Hypoplastic iliac body	7/7	OMIM:271640
126792	B3GALT6	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
126792	B3GALT6	HP:0003994	Dislocated wrist	-	OMIM:150250
126792	B3GALT6	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
126792	B3GALT6	HP:0002659	Increased susceptibility to fractures	8/10	OMIM:615349
126792	B3GALT6	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
126792	B3GALT6	HP:0002656	Epiphyseal dysplasia	-	OMIM:615349
126792	B3GALT6	HP:0002656	Epiphyseal dysplasia	-	OMIM:271640
126792	B3GALT6	HP:0001324	Muscle weakness	40/96	OMIM:131300
126792	B3GALT6	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:143095
126792	B3GALT6	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
126792	B3GALT6	HP:0002673	Coxa valga	-	OMIM:271640
126792	B3GALT6	HP:0000007	Autosomal recessive inheritance	-	OMIM:609465
126792	B3GALT6	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
126792	B3GALT6	HP:0000007	Autosomal recessive inheritance	-	OMIM:143095
126792	B3GALT6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
126792	B3GALT6	HP:0000007	Autosomal recessive inheritance	20/20	OMIM:271640
126792	B3GALT6	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
126792	B3GALT6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615349
126792	B3GALT6	HP:0000006	Autosomal dominant inheritance	-	OMIM:150250
126792	B3GALT6	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
126792	B3GALT6	HP:0002650	Scoliosis	1/5	OMIM:259770
126792	B3GALT6	HP:0002650	Scoliosis	1/1	OMIM:612394
126792	B3GALT6	HP:0002650	Scoliosis	9/9	OMIM:143095
126792	B3GALT6	HP:0002650	Scoliosis	12/14	OMIM:131300
126792	B3GALT6	HP:0002650	Scoliosis	12/20	OMIM:150250
126792	B3GALT6	HP:0002650	Scoliosis	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0002651	Spondyloepimetaphyseal dysplasia	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0002651	Spondyloepimetaphyseal dysplasia	-	OMIM:271640
126792	B3GALT6	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
126792	B3GALT6	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0002616	Aortic root aneurysm	3/10	OMIM:615349
126792	B3GALT6	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
126792	B3GALT6	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
126792	B3GALT6	HP:0008905	Rhizomelia	-	OMIM:143095
126792	B3GALT6	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
126792	B3GALT6	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
126792	B3GALT6	HP:0000175	Cleft palate	10/15	OMIM:271640
126792	B3GALT6	HP:0000175	Cleft palate	3/20	OMIM:150250
126792	B3GALT6	HP:0000175	Cleft palate	2/7	OMIM:615777
126792	B3GALT6	HP:0000175	Cleft palate	3/14	OMIM:615349
126792	B3GALT6	HP:0005008	Large joint dislocations	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0500087	Peripapillary atrophy	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0007598	Bilateral single transverse palmar creases	-	OMIM:143095
126792	B3GALT6	HP:0006243	Phalangeal dislocation	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0002780	Bronchomalacia	-	OMIM:150250
126792	B3GALT6	HP:0002779	Tracheomalacia	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0002779	Tracheomalacia	-	OMIM:150250
126792	B3GALT6	HP:0002777	Tracheal stenosis	-	OMIM:150250
126792	B3GALT6	HP:0000126	Hydronephrosis	1/1	OMIM:609465
126792	B3GALT6	HP:0002757	Recurrent fractures	1/1	OMIM:609465
126792	B3GALT6	HP:0002757	Recurrent fractures	4/5	OMIM:259770
126792	B3GALT6	HP:0002757	Recurrent fractures	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0002756	Pathologic fracture	-	OMIM:259770
126792	B3GALT6	HP:0002756	Pathologic fracture	-	OMIM:271640
126792	B3GALT6	HP:0002756	Pathologic fracture	1/1	OMIM:612394
126792	B3GALT6	HP:0002751	Kyphoscoliosis	-	OMIM:143095
126792	B3GALT6	HP:0002751	Kyphoscoliosis	-	OMIM:259770
126792	B3GALT6	HP:0002751	Kyphoscoliosis	7/7	OMIM:271640
126792	B3GALT6	HP:0002751	Kyphoscoliosis	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0002751	Kyphoscoliosis	14/14	OMIM:615349
126792	B3GALT6	HP:0002750	Delayed skeletal maturation	-	OMIM:143095
126792	B3GALT6	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
126792	B3GALT6	HP:0002007	Frontal bossing	-	OMIM:150250
126792	B3GALT6	HP:0002007	Frontal bossing	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0002007	Frontal bossing	-	OMIM:615349
126792	B3GALT6	HP:0003304	Spondylolysis	-	OMIM:150250
126792	B3GALT6	HP:0003301	Irregular vertebral endplates	-	OMIM:143095
126792	B3GALT6	HP:0003301	Irregular vertebral endplates	-	OMIM:271640
126792	B3GALT6	HP:0003300	Ovoid vertebral bodies	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0003300	Ovoid vertebral bodies	-	OMIM:271640
126792	B3GALT6	HP:0011800	Midface retrusion	-	OMIM:271640
126792	B3GALT6	HP:0011800	Midface retrusion	1/1	OMIM:609465
126792	B3GALT6	HP:0011800	Midface retrusion	19/20	OMIM:150250
126792	B3GALT6	HP:0011800	Midface retrusion	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0002098	Respiratory distress	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0002092	Pulmonary arterial hypertension	-	OMIM:143095
126792	B3GALT6	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0002093	Respiratory insufficiency	2/10	OMIM:615349
126792	B3GALT6	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
126792	B3GALT6	HP:0003388	Easy fatigability	36/76	OMIM:131300
126792	B3GALT6	HP:0010446	Tricuspid stenosis	-	OMIM:143095
126792	B3GALT6	HP:0008127	Bipartite calcaneus	-	OMIM:150250
126792	B3GALT6	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
126792	B3GALT6	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
126792	B3GALT6	HP:0009473	Joint contracture of the hand	1/7	OMIM:271640
126792	B3GALT6	HP:0009473	Joint contracture of the hand	2/4	OMIM:615349
126792	B3GALT6	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
126792	B3GALT6	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
126792	B3GALT6	HP:0003417	Coronal cleft vertebrae	-	OMIM:143095
126792	B3GALT6	HP:0003414	Atlantoaxial dislocation	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0002194	Delayed gross motor development	-	OMIM:143095
126792	B3GALT6	HP:0002164	Nail dysplasia	1/1	OMIM:612394
126792	B3GALT6	HP:0002176	Spinal cord compression	-	OMIM:150250
126792	B3GALT6	HP:0002176	Spinal cord compression	-	OMIM:271640
126792	B3GALT6	HP:0100490	Camptodactyly of finger	-	OMIM:143095
126792	B3GALT6	HP:0010557	Overlapping fingers	1/2	OMIM:612394
126792	B3GALT6	HP:0010550	Paraplegia	-	OMIM:271640
126792	B3GALT6	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
126792	B3GALT6	HP:0010585	Small epiphyses	9/9	OMIM:143095
126792	B3GALT6	HP:0010575	Dysplasia of the femoral head	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0010575	Dysplasia of the femoral head	11/14	OMIM:615349
126792	B3GALT6	HP:0010575	Dysplasia of the femoral head	1/7	OMIM:271640
126792	B3GALT6	HP:0003593	Infantile onset	1/5	OMIM:259770
126792	B3GALT6	HP:0003593	Infantile onset	9/9	OMIM:143095
126792	B3GALT6	HP:0003593	Infantile onset	10/10	OMIM:615349
126792	B3GALT6	HP:0003577	Congenital onset	4/5	OMIM:259770
126792	B3GALT6	HP:0003577	Congenital onset	6/6	OMIM:143095
126792	B3GALT6	HP:0002209	Sparse scalp hair	10/15	OMIM:271640
126792	B3GALT6	HP:0002209	Sparse scalp hair	3/4	OMIM:615349
126792	B3GALT6	HP:0002208	Coarse hair	1/1	OMIM:612394
126792	B3GALT6	HP:0009726	Renal neoplasm	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0009702	Carpal synostosis	2/14	OMIM:615349
126792	B3GALT6	HP:0009702	Carpal synostosis	1/5	OMIM:271640
126792	B3GALT6	HP:0100750	Atelectasis	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0010648	Dermal translucency	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0010648	Dermal translucency	4/10	OMIM:615349
126792	B3GALT6	HP:0430047	Large joint hypermobilty	4/4	OMIM:615349
126792	B3GALT6	HP:0430047	Large joint hypermobilty	2/5	OMIM:271640
126792	B3GALT6	HP:0010646	Cervical spine instability	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0010646	Cervical spine instability	3/10	OMIM:615349
126792	B3GALT6	HP:0003510	Severe short stature	7/7	OMIM:615777
126792	B3GALT6	HP:0003510	Severe short stature	7/7	OMIM:271640
126792	B3GALT6	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
126792	B3GALT6	HP:0025019	Arterial rupture	1/1	OMIM:612394
126792	B3GALT6	HP:0001030	Fragile skin	-	OMIM:271640
126792	B3GALT6	HP:0001027	Soft, doughy skin	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0001027	Soft, doughy skin	4/4	OMIM:615349
126792	B3GALT6	HP:0001027	Soft, doughy skin	2/5	OMIM:271640
126792	B3GALT6	HP:0002315	Headache	-	OMIM:131300
126792	B3GALT6	HP:0004976	Knee dislocation	16/20	OMIM:150250
126792	B3GALT6	HP:0004976	Knee dislocation	6/6	OMIM:143095
126792	B3GALT6	HP:0004976	Knee dislocation	6/7	OMIM:615777
126792	B3GALT6	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
126792	B3GALT6	HP:0004993	Slender long bones with narrow diaphyses	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0009836	Broad distal phalanx of finger	1/1	OMIM:609465
126792	B3GALT6	HP:0009836	Broad distal phalanx of finger	-	OMIM:271640
126792	B3GALT6	HP:0001075	Atrophic scars	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0001075	Atrophic scars	5/10	OMIM:615349
126792	B3GALT6	HP:0009803	Short phalanx of finger	-	OMIM:143095
126792	B3GALT6	HP:0009803	Short phalanx of finger	-	OMIM:615777
126792	B3GALT6	HP:0001089	Iris atrophy	-	OMIM:259770
126792	B3GALT6	HP:0001083	Ectopia lentis	-	OMIM:271640
126792	B3GALT6	HP:0008450	Narrow vertebral interpedicular distance	-	OMIM:143095
126792	B3GALT6	HP:0008453	Congenital kyphoscoliosis	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0010743	Short metatarsal	-	OMIM:150250
126792	B3GALT6	HP:0009763	Limb pain	63/92	OMIM:131300
126792	B3GALT6	HP:0008434	Hypoplastic cervical vertebrae	-	OMIM:150250
126792	B3GALT6	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
126792	B3GALT6	HP:0004970	Ascending tubular aorta aneurysm	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0003621	Juvenile onset	-	OMIM:131300
126792	B3GALT6	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
126792	B3GALT6	HP:0004942	Aortic aneurysm	-	OMIM:150250
126792	B3GALT6	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
126792	B3GALT6	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
126792	B3GALT6	HP:0004233	Advanced ossification of carpal bones	1/4	OMIM:615349
126792	B3GALT6	HP:0004233	Advanced ossification of carpal bones	13/15	OMIM:271640
126792	B3GALT6	HP:0004232	Accessory carpal bones	-	OMIM:150250
126792	B3GALT6	HP:6001056	Out-toeing	-	OMIM:131300
126792	B3GALT6	HP:0000651	Diplopia	-	OMIM:131300
126792	B3GALT6	HP:0000647	Sclerocornea	1/1	OMIM:609465
126792	B3GALT6	HP:0000618	Blindness	5/5	OMIM:259770
126792	B3GALT6	HP:0001956	Truncal obesity	2/7	OMIM:615777
126792	B3GALT6	HP:0001903	Anemia	HP:0040283	OMIM:131300
126792	B3GALT6	HP:0010049	Short metacarpal	-	OMIM:143095
126792	B3GALT6	HP:0010049	Short metacarpal	-	OMIM:615777
126792	B3GALT6	HP:0010049	Short metacarpal	5/5	OMIM:271640
126792	B3GALT6	HP:0010049	Short metacarpal	-	OMIM:150250
126792	B3GALT6	HP:0010049	Short metacarpal	1/4	OMIM:615349
126792	B3GALT6	HP:0000684	Delayed eruption of teeth	-	OMIM:143095
126792	B3GALT6	HP:0011341	Long upper lip	3/4	OMIM:615349
126792	B3GALT6	HP:0011341	Long upper lip	3/5	OMIM:271640
126792	B3GALT6	HP:0000678	Dental crowding	-	OMIM:615777
126792	B3GALT6	HP:0000691	Microdontia	-	OMIM:143095
126792	B3GALT6	HP:0000691	Microdontia	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0000687	Widely spaced teeth	-	OMIM:143095
126792	B3GALT6	HP:0000670	Carious teeth	-	OMIM:131300
126792	B3GALT6	HP:0000670	Carious teeth	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0011304	Broad thumb	2/7	OMIM:615777
126792	B3GALT6	HP:0000668	Hypodontia	-	OMIM:615777
126792	B3GALT6	HP:0000668	Hypodontia	-	OMIM:150250
126792	B3GALT6	HP:0000667	Phthisis bulbi	-	OMIM:259770
126792	B3GALT6	HP:0000664	Synophrys	-	OMIM:615777
126792	B3GALT6	HP:0004325	Decreased body weight	-	OMIM:271640
126792	B3GALT6	HP:0004325	Decreased body weight	-	OMIM:615349
126792	B3GALT6	HP:0004322	Short stature	-	OMIM:259770
126792	B3GALT6	HP:0004322	Short stature	15/15	OMIM:143095
126792	B3GALT6	HP:0004322	Short stature	14/20	OMIM:150250
126792	B3GALT6	HP:0004322	Short stature	10/10	OMIM:615349
126792	B3GALT6	HP:0003071	Flattened epiphysis	-	OMIM:143095
126792	B3GALT6	HP:0003083	Dislocated radial head	-	OMIM:271640
126792	B3GALT6	HP:0003083	Dislocated radial head	6/6	OMIM:143095
126792	B3GALT6	HP:0004396	Poor appetite	-	OMIM:131300
126792	B3GALT6	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
126792	B3GALT6	HP:0003031	Ulnar bowing	-	OMIM:143095
126792	B3GALT6	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
126792	B3GALT6	HP:0003048	Radial head subluxation	-	OMIM:271640
126792	B3GALT6	HP:0003042	Elbow dislocation	-	OMIM:143095
126792	B3GALT6	HP:0003042	Elbow dislocation	13/20	OMIM:150250
126792	B3GALT6	HP:0003040	Arthropathy	-	OMIM:143095
126792	B3GALT6	HP:0005678	Anterior atlanto-occipital dislocation	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0003015	Flared metaphysis	7/7	OMIM:271640
126792	B3GALT6	HP:0003015	Flared metaphysis	3/4	OMIM:615349
126792	B3GALT6	HP:0003016	Metaphyseal widening	-	OMIM:259770
126792	B3GALT6	HP:0003016	Metaphyseal widening	-	OMIM:271640
126792	B3GALT6	HP:0003016	Metaphyseal widening	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
126792	B3GALT6	HP:0003026	Short long bone	7/7	OMIM:615777
126792	B3GALT6	HP:0003026	Short long bone	-	OMIM:271640
126792	B3GALT6	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
126792	B3GALT6	HP:0003022	Hypoplasia of the ulna	-	OMIM:143095
126792	B3GALT6	HP:0000767	Pectus excavatum	-	OMIM:150250
126792	B3GALT6	HP:0000767	Pectus excavatum	2/7	OMIM:615777
126792	B3GALT6	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0000767	Pectus excavatum	HP:0040283	OMIM:615349
126792	B3GALT6	HP:0000768	Pectus carinatum	-	OMIM:150250
126792	B3GALT6	HP:0000768	Pectus carinatum	1/7	OMIM:615777
126792	B3GALT6	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0012727	Thoracic aortic aneurysm	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
126792	B3GALT6	HP:0000750	Delayed speech and language development	-	OMIM:615777
126792	B3GALT6	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0000703	Dentinogenesis imperfecta	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0009179	Deviation of the 5th finger	-	OMIM:143095
126792	B3GALT6	HP:0011461	Fetal onset	7/7	OMIM:615777
126792	B3GALT6	HP:0011461	Fetal onset	2/2	OMIM:612394
126792	B3GALT6	HP:0000774	Narrow chest	2/7	OMIM:615777
126792	B3GALT6	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
126792	B3GALT6	HP:0003100	Slender long bone	-	OMIM:271640
126792	B3GALT6	HP:0003196	Short nose	1/1	OMIM:612394
126792	B3GALT6	HP:0003196	Short nose	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0000914	Shield chest	-	OMIM:143095
126792	B3GALT6	HP:0000926	Platyspondyly	-	OMIM:259770
126792	B3GALT6	HP:0000926	Platyspondyly	1/7	OMIM:615777
126792	B3GALT6	HP:0000926	Platyspondyly	1/1	OMIM:612394
126792	B3GALT6	HP:0000926	Platyspondyly	7/7	OMIM:271640
126792	B3GALT6	HP:0000926	Platyspondyly	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0000926	Platyspondyly	4/4	OMIM:615349
126792	B3GALT6	HP:0003184	Decreased hip abduction	-	OMIM:143095
126792	B3GALT6	HP:0003180	Flat acetabular roof	-	OMIM:615777
126792	B3GALT6	HP:0000904	Flaring of rib cage	-	OMIM:271640
126792	B3GALT6	HP:0004482	Relative macrocephaly	-	OMIM:615777
126792	B3GALT6	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
126792	B3GALT6	HP:0000878	11 pairs of ribs	-	OMIM:271640
126792	B3GALT6	HP:0000887	Cupped ribs	-	OMIM:271640
126792	B3GALT6	HP:0003093	Limited hip extension	9/9	OMIM:143095
126792	B3GALT6	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
126792	B3GALT6	HP:0003090	Hypoplasia of the capital femoral epiphysis	-	OMIM:143095
126792	B3GALT6	HP:0000823	Delayed puberty	-	OMIM:131300
126792	B3GALT6	HP:0000894	Short clavicles	-	OMIM:615777
126792	B3GALT6	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
126792	B3GALT6	HP:0004568	Beaking of vertebral bodies	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0004568	Beaking of vertebral bodies	-	OMIM:150250
126792	B3GALT6	HP:0004568	Beaking of vertebral bodies	4/4	OMIM:615349
126792	B3GALT6	HP:0004568	Beaking of vertebral bodies	5/7	OMIM:271640
126792	B3GALT6	HP:0030884	Gastrojejunal tube feeding in infancy	1/1	OMIM:609465
126792	B3GALT6	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
126792	B3GALT6	HP:0034392	Joint contracture	10/10	OMIM:615349
126792	B3GALT6	HP:0003298	Spina bifida occulta	-	OMIM:150250
126792	B3GALT6	HP:0045075	Sparse eyebrow	-	OMIM:143095
126792	B3GALT6	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
126792	B3GALT6	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
126792	B3GALT6	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0000977	Soft skin	9/10	OMIM:615349
126792	B3GALT6	HP:0000974	Hyperextensible skin	2/5	OMIM:271640
126792	B3GALT6	HP:0000974	Hyperextensible skin	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0000974	Hyperextensible skin	10/14	OMIM:615349
126792	B3GALT6	HP:0000973	Cutis laxa	0/5	OMIM:271640
126792	B3GALT6	HP:0000973	Cutis laxa	8/14	OMIM:615349
126792	B3GALT6	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
126792	B3GALT6	HP:0000963	Thin skin	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0000939	Osteoporosis	4/5	OMIM:259770
126792	B3GALT6	HP:0000939	Osteoporosis	-	OMIM:271640
126792	B3GALT6	HP:0000939	Osteoporosis	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0000938	Osteopenia	1/1	OMIM:609465
126792	B3GALT6	HP:0000938	Osteopenia	1/5	OMIM:259770
126792	B3GALT6	HP:0000938	Osteopenia	1/1	OMIM:612394
126792	B3GALT6	HP:0000938	Osteopenia	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0000938	Osteopenia	8/10	OMIM:615349
126792	B3GALT6	HP:0000946	Hypoplastic ilia	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0000946	Hypoplastic ilia	10/10	OMIM:615349
126792	B3GALT6	HP:0008070	Sparse hair	-	OMIM:615349
126792	B3GALT6	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
126792	B3GALT6	HP:6000970	Diminished sulfotransferase activity in cultured fibroblasts	2/2	OMIM:143095
126792	B3GALT6	HP:0000286	Epicanthus	1/7	OMIM:615777
126792	B3GALT6	HP:0000280	Coarse facial features	2/7	OMIM:615777
126792	B3GALT6	HP:0000272	Malar flattening	-	OMIM:150250
126792	B3GALT6	HP:0000272	Malar flattening	1/1	OMIM:612394
126792	B3GALT6	HP:0000272	Malar flattening	-	OMIM:271640
126792	B3GALT6	HP:0006471	Fixed elbow flexion	-	OMIM:143095
126792	B3GALT6	HP:0006462	Generalized bone demineralization	-	OMIM:143095
126792	B3GALT6	HP:0007773	Vitreoretinopathy	-	OMIM:259770
126792	B3GALT6	HP:0002816	Genu recurvatum	3/6	OMIM:143095
126792	B3GALT6	HP:0002829	Arthralgia	-	OMIM:143095
126792	B3GALT6	HP:0002827	Hip dislocation	16/20	OMIM:150250
126792	B3GALT6	HP:0002827	Hip dislocation	3/7	OMIM:615777
126792	B3GALT6	HP:0002827	Hip dislocation	11/17	OMIM:271640
126792	B3GALT6	HP:0002827	Hip dislocation	3/4	OMIM:615349
126792	B3GALT6	HP:0002828	Multiple joint contractures	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0002822	Hyperplasia of the femoral trochanters	4/4	OMIM:615349
126792	B3GALT6	HP:0002822	Hyperplasia of the femoral trochanters	7/7	OMIM:271640
126792	B3GALT6	HP:0002808	Kyphosis	-	OMIM:143095
126792	B3GALT6	HP:0002808	Kyphosis	1/5	OMIM:259770
126792	B3GALT6	HP:0005037	Proximal radio-ulnar synostosis	1/1	OMIM:609465
126792	B3GALT6	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0000252	Microcephaly	-	OMIM:259770
126792	B3GALT6	HP:0000252	Microcephaly	-	OMIM:615777
126792	B3GALT6	HP:0001552	Barrel-shaped chest	-	OMIM:143095
126792	B3GALT6	HP:0001552	Barrel-shaped chest	-	OMIM:259770
126792	B3GALT6	HP:0001547	Abnormal rib cage morphology	-	OMIM:271640
126792	B3GALT6	HP:0000218	High palate	-	OMIM:271640
126792	B3GALT6	HP:0000218	High palate	-	OMIM:143095
126792	B3GALT6	HP:0000218	High palate	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0001561	Polyhydramnios	1/1	OMIM:609465
126792	B3GALT6	HP:0002857	Genu valgum	-	OMIM:131300
126792	B3GALT6	HP:0002857	Genu valgum	-	OMIM:143095
126792	B3GALT6	HP:0002857	Genu valgum	-	OMIM:271640
126792	B3GALT6	HP:0002869	Flared iliac wing	-	OMIM:271640
126792	B3GALT6	HP:0001533	Slender build	-	OMIM:131300
126792	B3GALT6	HP:0000204	Cleft upper lip	-	OMIM:150250
126792	B3GALT6	HP:0001508	Failure to thrive	1/1	OMIM:609465
126792	B3GALT6	HP:0030043	Hip subluxation	-	OMIM:271640
126792	B3GALT6	HP:0001511	Intrauterine growth retardation	-	OMIM:150250
126792	B3GALT6	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
126792	B3GALT6	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
126792	B3GALT6	HP:0007807	Optic nerve compression	-	OMIM:131300
126792	B3GALT6	HP:0012368	Flat face	7/7	OMIM:615777
126792	B3GALT6	HP:0012368	Flat face	1/1	OMIM:612394
126792	B3GALT6	HP:0012368	Flat face	4/5	OMIM:271640
126792	B3GALT6	HP:0012368	Flat face	-	OMIM:150250
126792	B3GALT6	HP:0012368	Flat face	14/14	OMIM:615349
126792	B3GALT6	HP:0012366	Basilar invagination	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
126792	B3GALT6	HP:0007875	Congenital blindness	4/5	OMIM:259770
126792	B3GALT6	HP:0007862	Retinal calcification	1/5	OMIM:259770
126792	B3GALT6	HP:0006532	Recurrent pneumonia	1/1	OMIM:609465
126792	B3GALT6	HP:0006522	Repeated pneumothoraces	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0002938	Lumbar hyperlordosis	-	OMIM:143095
126792	B3GALT6	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
126792	B3GALT6	HP:0002948	Vertebral fusion	8/16	OMIM:150250
126792	B3GALT6	HP:0002947	Cervical kyphosis	-	OMIM:150250
126792	B3GALT6	HP:0002945	Intervertebral space narrowing	9/9	OMIM:143095
126792	B3GALT6	HP:0005180	Tricuspid regurgitation	-	OMIM:143095
126792	B3GALT6	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0006487	Bowing of the long bones	10/10	OMIM:615349
126792	B3GALT6	HP:0000365	Hearing impairment	-	OMIM:143095
126792	B3GALT6	HP:0000365	Hearing impairment	10/67	OMIM:131300
126792	B3GALT6	HP:0000365	Hearing impairment	4/19	OMIM:150250
126792	B3GALT6	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0000369	Low-set ears	2/2	OMIM:612394
126792	B3GALT6	HP:0000369	Low-set ears	HP:0040281	ORPHA:536467
126792	B3GALT6	HP:0000343	Long philtrum	HP:0040282	OMIM:143095
126792	B3GALT6	HP:0000343	Long philtrum	-	OMIM:271640
126792	B3GALT6	HP:0000343	Long philtrum	1/7	OMIM:615777
126792	B3GALT6	HP:0000343	Long philtrum	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0011001	Increased bone mineral density	-	OMIM:131300
126792	B3GALT6	HP:0000337	Broad forehead	HP:0040282	OMIM:143095
126792	B3GALT6	HP:0002996	Limited elbow movement	4/4	OMIM:615349
126792	B3GALT6	HP:0002996	Limited elbow movement	4/6	OMIM:271640
126792	B3GALT6	HP:0000347	Micrognathia	4/7	OMIM:271640
126792	B3GALT6	HP:0000347	Micrognathia	1/1	OMIM:609465
126792	B3GALT6	HP:0000347	Micrognathia	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0000347	Micrognathia	0/4	OMIM:615349
126792	B3GALT6	HP:0002982	Tibial bowing	1/5	OMIM:259770
126792	B3GALT6	HP:0002982	Tibial bowing	-	OMIM:143095
126792	B3GALT6	HP:0001650	Aortic valve stenosis	-	OMIM:143095
126792	B3GALT6	HP:0001647	Bicuspid aortic valve	-	OMIM:271640
126792	B3GALT6	HP:0000316	Hypertelorism	-	OMIM:143095
126792	B3GALT6	HP:0000316	Hypertelorism	-	OMIM:150250
126792	B3GALT6	HP:0000311	Round face	2/7	OMIM:615777
126792	B3GALT6	HP:0001642	Pulmonic stenosis	-	OMIM:143095
126792	B3GALT6	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0001659	Aortic regurgitation	-	OMIM:143095
126792	B3GALT6	HP:0002986	Radial bowing	-	OMIM:271640
126792	B3GALT6	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
126792	B3GALT6	HP:0001653	Mitral regurgitation	-	OMIM:143095
126792	B3GALT6	HP:0001653	Mitral regurgitation	-	OMIM:271640
126792	B3GALT6	HP:0001629	Ventricular septal defect	-	OMIM:143095
126792	B3GALT6	HP:0001629	Ventricular septal defect	-	OMIM:259770
126792	B3GALT6	HP:0001629	Ventricular septal defect	-	OMIM:271640
126792	B3GALT6	HP:0001629	Ventricular septal defect	-	OMIM:150250
126792	B3GALT6	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
126792	B3GALT6	HP:0001623	Breech presentation	3/6	OMIM:143095
126792	B3GALT6	HP:0002970	Genu varum	-	OMIM:615777
126792	B3GALT6	HP:0000307	Pointed chin	1/2	OMIM:612394
126792	B3GALT6	HP:0002967	Cubitus valgus	-	OMIM:143095
126792	B3GALT6	HP:0000300	Oval face	-	OMIM:271640
126792	B3GALT6	HP:0001631	Atrial septal defect	5/5	OMIM:271640
126792	B3GALT6	HP:0001631	Atrial septal defect	-	OMIM:150250
126792	B3GALT6	HP:0000303	Mandibular prognathia	-	OMIM:131300
126792	B3GALT6	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0007957	Corneal opacity	1/1	OMIM:609465
126792	B3GALT6	HP:0007957	Corneal opacity	-	OMIM:150250
126792	B3GALT6	HP:0006610	Wide intermamillary distance	-	OMIM:143095
126792	B3GALT6	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
126792	B3GALT6	HP:0000405	Conductive hearing impairment	-	OMIM:150250
126792	B3GALT6	HP:0001718	Mitral stenosis	-	OMIM:143095
126792	B3GALT6	HP:0001714	Ventricular hypertrophy	-	OMIM:143095
126792	B3GALT6	HP:0005280	Depressed nasal bridge	-	OMIM:150250
126792	B3GALT6	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
126792	B3GALT6	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0000482	Microcornea	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0000463	Anteverted nares	1/1	OMIM:612394
126792	B3GALT6	HP:0000463	Anteverted nares	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0000473	Torticollis	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0000470	Short neck	-	OMIM:143095
126792	B3GALT6	HP:0000470	Short neck	-	OMIM:271640
126792	B3GALT6	HP:0000470	Short neck	1/7	OMIM:615777
126792	B3GALT6	HP:0001799	Short nail	-	OMIM:150250
126792	B3GALT6	HP:0001799	Short nail	-	OMIM:271640
126792	B3GALT6	HP:0001772	Talipes equinovalgus	-	OMIM:150250
126792	B3GALT6	HP:0001769	Broad foot	HP:0040283	OMIM:615777
126792	B3GALT6	HP:0001763	Pes planus	-	OMIM:143095
126792	B3GALT6	HP:0001763	Pes planus	1/7	OMIM:615777
126792	B3GALT6	HP:0001763	Pes planus	3/5	OMIM:271640
126792	B3GALT6	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:609465
126792	B3GALT6	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
126792	B3GALT6	HP:0000410	Mixed hearing impairment	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0001762	Talipes equinovarus	6/6	OMIM:143095
126792	B3GALT6	HP:0001762	Talipes equinovarus	2/7	OMIM:271640
126792	B3GALT6	HP:0001762	Talipes equinovarus	15/20	OMIM:150250
126792	B3GALT6	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0001762	Talipes equinovarus	2/4	OMIM:615349
126792	B3GALT6	HP:0000518	Cataract	1/5	OMIM:259770
126792	B3GALT6	HP:0000518	Cataract	1/1	OMIM:612394
126792	B3GALT6	HP:0001840	Metatarsus adductus	-	OMIM:271640
126792	B3GALT6	HP:0001840	Metatarsus adductus	-	OMIM:615777
126792	B3GALT6	HP:0000520	Proptosis	2/4	OMIM:131300
126792	B3GALT6	HP:0000520	Proptosis	7/7	OMIM:615777
126792	B3GALT6	HP:0000520	Proptosis	3/5	OMIM:271640
126792	B3GALT6	HP:0000520	Proptosis	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0000520	Proptosis	14/14	OMIM:615349
126792	B3GALT6	HP:0001822	Hallux valgus	-	OMIM:271640
126792	B3GALT6	HP:0001822	Hallux valgus	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0000501	Glaucoma	HP:0040283	ORPHA:536467
126792	B3GALT6	HP:0000592	Blue sclerae	2/7	OMIM:615777
126792	B3GALT6	HP:0000592	Blue sclerae	3/5	OMIM:271640
126792	B3GALT6	HP:0000592	Blue sclerae	HP:0040282	ORPHA:536467
126792	B3GALT6	HP:0000592	Blue sclerae	3/4	OMIM:615349
126792	B3GALT6	HP:0000586	Shallow orbits	-	OMIM:150250
126792	B3GALT6	HP:0000586	Shallow orbits	1/1	OMIM:612394
126792	B3GALT6	HP:0011220	Prominent forehead	-	OMIM:150250
126792	B3GALT6	HP:0011220	Prominent forehead	4/5	OMIM:271640
126792	B3GALT6	HP:0011220	Prominent forehead	4/4	OMIM:615349
126792	B3GALT6	HP:0000568	Microphthalmia	1/5	OMIM:259770
126792	B3GALT6	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
126792	B3GALT6	HP:0012514	Lower limb pain	4/4	OMIM:131300
126792	B3GALT6	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
126792	B3GALT6	HP:0000545	Myopia	20/20	OMIM:271640
126792	B3GALT6	HP:0000545	Myopia	1/1	OMIM:612394
126792	B3GALT6	HP:0000545	Myopia	HP:0040283	ORPHA:536467
127534	GJB4	HP:0001182	Tapered finger	HP:0040283	ORPHA:317
127534	GJB4	HP:0001156	Brachydactyly	HP:0040283	ORPHA:317
127534	GJB4	HP:0001249	Intellectual disability	HP:0040283	ORPHA:317
127534	GJB4	HP:0007400	Irregular hyperpigmentation	HP:0040282	ORPHA:317
127534	GJB4	HP:0000035	Abnormal testis morphology	HP:0040283	ORPHA:317
127534	GJB4	HP:0000006	Autosomal dominant inheritance	-	OMIM:617524
127534	GJB4	HP:0003577	Congenital onset	8/8	OMIM:617524
127534	GJB4	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:317
127534	GJB4	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:317
127534	GJB4	HP:0200035	Skin plaque	8/8	OMIM:617524
127534	GJB4	HP:0010783	Erythema	HP:0040281	ORPHA:317
127534	GJB4	HP:0010783	Erythema	8/8	OMIM:617524
127534	GJB4	HP:0005588	Patchy palmoplantar hyperkeratosis	HP:0040282	ORPHA:317
127534	GJB4	HP:0004322	Short stature	HP:0040281	ORPHA:317
127534	GJB4	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:317
127534	GJB4	HP:0012733	Macule	HP:0040281	ORPHA:317
127534	GJB4	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:317
127534	GJB4	HP:0000998	Hypertrichosis	-	OMIM:617524
127534	GJB4	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:317
127534	GJB4	HP:0000988	Skin rash	HP:0040281	ORPHA:317
127534	GJB4	HP:0000982	Palmoplantar keratoderma	0/8	OMIM:617524
127534	GJB4	HP:0000958	Dry skin	HP:0040282	ORPHA:317
127534	GJB4	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:317
127534	GJB4	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:317
127534	GJB4	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:317
127534	GJB4	HP:0001595	Abnormal hair morphology	HP:0040282	ORPHA:317
127534	GJB4	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:317
127534	GJB4	HP:0001596	Alopecia	HP:0040282	ORPHA:317
127534	GJB4	HP:0000252	Microcephaly	HP:0040281	ORPHA:317
127534	GJB4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:317
127534	GJB4	HP:0007957	Corneal opacity	HP:0040283	ORPHA:317
127534	GJB4	HP:0000411	Protruding ear	HP:0040283	ORPHA:317
127534	GJB4	HP:0000518	Cataract	HP:0040282	ORPHA:317
127534	GJB4	HP:0001824	Weight loss	HP:0040281	ORPHA:317
127534	GJB4	HP:0000501	Glaucoma	HP:0040282	ORPHA:317
127833	SYT2	HP:0002460	Distal muscle weakness	5/10	OMIM:616040
127833	SYT2	HP:0002421	Poor head control	HP:0040283	ORPHA:98914
127833	SYT2	HP:0003701	Proximal muscle weakness	3/10	OMIM:616040
127833	SYT2	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:98914
127833	SYT2	HP:0001270	Motor delay	HP:0040283	ORPHA:98914
127833	SYT2	HP:0001270	Motor delay	1/10	OMIM:616040
127833	SYT2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98914
127833	SYT2	HP:0001283	Bulbar palsy	HP:0040282	ORPHA:98914
127833	SYT2	HP:0001284	Areflexia	10/10	OMIM:616040
127833	SYT2	HP:0001284	Areflexia	6/7	OMIM:619461
127833	SYT2	HP:0001284	Areflexia	HP:0040283	ORPHA:98914
127833	SYT2	HP:0001250	Seizure	HP:0040283	ORPHA:98914
127833	SYT2	HP:0001252	Hypotonia	HP:0040283	ORPHA:98914
127833	SYT2	HP:0001252	Hypotonia	7/7	OMIM:619461
127833	SYT2	HP:0001251	Ataxia	HP:0040282	ORPHA:98914
127833	SYT2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:98914
127833	SYT2	HP:0001265	Hyporeflexia	-	OMIM:616040
127833	SYT2	HP:0001265	Hyporeflexia	HP:0040284	ORPHA:98914
127833	SYT2	HP:0001260	Dysarthria	1/7	OMIM:619461
127833	SYT2	HP:0002515	Waddling gait	4/10	OMIM:616040
127833	SYT2	HP:0002515	Waddling gait	HP:0040283	ORPHA:98914
127833	SYT2	HP:0032341	Reduced forced vital capacity	2/7	OMIM:619461
127833	SYT2	HP:0001374	Congenital hip dislocation	HP:0040284	ORPHA:98914
127833	SYT2	HP:0001382	Joint hypermobility	HP:0040284	ORPHA:98914
127833	SYT2	HP:0033725	Thin corpus callosum	2/7	OMIM:619461
127833	SYT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619461
127833	SYT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:616040
127833	SYT2	HP:0001308	Tongue fasciculations	2/7	OMIM:619461
127833	SYT2	HP:0001320	Cerebellar vermis hypoplasia	1/7	OMIM:619461
127833	SYT2	HP:0002650	Scoliosis	3/7	OMIM:619461
127833	SYT2	HP:0025401	Staring gaze	HP:0040284	ORPHA:98914
127833	SYT2	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:98914
127833	SYT2	HP:0002747	Respiratory insufficiency due to muscle weakness	2/7	OMIM:619461
127833	SYT2	HP:0002021	Pyloric stenosis	1/7	OMIM:619461
127833	SYT2	HP:0002020	Gastroesophageal reflux	HP:0040284	ORPHA:98914
127833	SYT2	HP:0002033	Poor suck	HP:0040281	ORPHA:98914
127833	SYT2	HP:0004661	Frontalis muscle weakness	HP:0040281	ORPHA:98914
127833	SYT2	HP:0003325	Limb-girdle muscle weakness	HP:0040283	ORPHA:98914
127833	SYT2	HP:0002015	Dysphagia	1/7	OMIM:619461
127833	SYT2	HP:0002015	Dysphagia	HP:0040281	ORPHA:98914
127833	SYT2	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:98914
127833	SYT2	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:98914
127833	SYT2	HP:0005943	Respiratory arrest	HP:0040284	ORPHA:98914
127833	SYT2	HP:0002059	Cerebral atrophy	1/7	OMIM:619461
127833	SYT2	HP:0003388	Easy fatigability	4/10	OMIM:616040
127833	SYT2	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98914
127833	SYT2	HP:0003388	Easy fatigability	2/7	OMIM:619461
127833	SYT2	HP:0003473	Fatigable weakness	HP:0040281	ORPHA:98914
127833	SYT2	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:98914
127833	SYT2	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	4/7	OMIM:619461
127833	SYT2	HP:0010536	Central sleep apnea	HP:0040282	ORPHA:98914
127833	SYT2	HP:0003577	Congenital onset	4/7	OMIM:619461
127833	SYT2	HP:0004885	Episodic respiratory distress	HP:0040282	ORPHA:98914
127833	SYT2	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0040281	ORPHA:98914
127833	SYT2	HP:0003557	Increased variability in muscle fiber diameter	1/7	OMIM:619461
127833	SYT2	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:98914
127833	SYT2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:98914
127833	SYT2	HP:0033383	Decreased compound muscle action potential amplitude	8/9	OMIM:616040
127833	SYT2	HP:0002392	EEG with polyspike wave complexes	HP:0040284	ORPHA:98914
127833	SYT2	HP:0003693	Distal amyotrophy	4/10	OMIM:616040
127833	SYT2	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:98914
127833	SYT2	HP:0007126	Proximal amyotrophy	1/10	OMIM:616040
127833	SYT2	HP:0008443	Neuropathic spinal arthropathy	HP:0040282	ORPHA:98914
127833	SYT2	HP:0007178	Motor polyneuropathy	HP:0040284	ORPHA:98914
127833	SYT2	HP:0000639	Nystagmus	HP:0040284	ORPHA:98914
127833	SYT2	HP:0000651	Diplopia	HP:0040284	ORPHA:98914
127833	SYT2	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:98914
127833	SYT2	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:98914
127833	SYT2	HP:0009027	Foot dorsiflexor weakness	6/10	OMIM:616040
127833	SYT2	HP:0000768	Pectus carinatum	HP:0040284	ORPHA:98914
127833	SYT2	HP:0011469	Nasal regurgitation	HP:0040282	ORPHA:98914
127833	SYT2	HP:0011463	Childhood onset	-	OMIM:616040
127833	SYT2	HP:0011461	Fetal onset	3/7	OMIM:619461
127833	SYT2	HP:0012801	Narrow jaw	HP:0040283	ORPHA:98914
127833	SYT2	HP:0030842	Choking episodes	HP:0040282	ORPHA:98914
127833	SYT2	HP:0010307	Stridor	HP:0040283	ORPHA:98914
127833	SYT2	HP:0100285	EMG: impaired neuromuscular transmission	HP:0040282	ORPHA:98914
127833	SYT2	HP:0000961	Cyanosis	HP:0040282	ORPHA:98914
127833	SYT2	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:98914
127833	SYT2	HP:0000276	Long face	HP:0040283	ORPHA:98914
127833	SYT2	HP:0006466	Ankle flexion contracture	1/7	OMIM:619461
127833	SYT2	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:98914
127833	SYT2	HP:0006380	Knee flexion contracture	4/7	OMIM:619461
127833	SYT2	HP:0002882	Sudden episodic apnea	HP:0040281	ORPHA:98914
127833	SYT2	HP:0000218	High palate	HP:0040283	ORPHA:98914
127833	SYT2	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:98914
127833	SYT2	HP:0001558	Decreased fetal movement	3/7	OMIM:619461
127833	SYT2	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:98914
127833	SYT2	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	HP:0040282	ORPHA:98914
127833	SYT2	HP:0002870	Obstructive sleep apnea	HP:0040284	ORPHA:98914
127833	SYT2	HP:0001508	Failure to thrive	2/7	OMIM:619461
127833	SYT2	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:98914
127833	SYT2	HP:0025680	Compound muscle action potential amplitude facilitation	6/8	OMIM:616040
127833	SYT2	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	-	ORPHA:98914
127833	SYT2	HP:0002936	Distal sensory impairment	2/10	OMIM:616040
127833	SYT2	HP:0001618	Dysphonia	HP:0040283	ORPHA:98914
127833	SYT2	HP:0001612	Weak cry	HP:0040283	ORPHA:98914
127833	SYT2	HP:0001612	Weak cry	2/7	OMIM:619461
127833	SYT2	HP:0001611	Hypernasal speech	2/7	OMIM:619461
127833	SYT2	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:98914
127833	SYT2	HP:0000365	Hearing impairment	2/10	OMIM:616040
127833	SYT2	HP:0000369	Low-set ears	HP:0040284	ORPHA:98914
127833	SYT2	HP:0001682	Subvalvular aortic stenosis	1/7	OMIM:619461
127833	SYT2	HP:0002987	Elbow flexion contracture	1/7	OMIM:619461
127833	SYT2	HP:0001621	Weak voice	3/7	OMIM:619461
127833	SYT2	HP:0001620	Abnormally high-pitched voice	1/7	OMIM:619461
127833	SYT2	HP:0000308	Microretrognathia	HP:0040284	ORPHA:98914
127833	SYT2	HP:0007941	Limited extraocular movements	4/7	OMIM:619461
127833	SYT2	HP:0030319	Weakness of facial musculature	7/7	OMIM:619461
127833	SYT2	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:98914
127833	SYT2	HP:0001718	Mitral stenosis	1/7	OMIM:619461
127833	SYT2	HP:0000467	Neck muscle weakness	HP:0040281	ORPHA:98914
127833	SYT2	HP:0001763	Pes planus	1/10	OMIM:616040
127833	SYT2	HP:0001765	Hammertoe	8/10	OMIM:616040
127833	SYT2	HP:0001761	Pes cavus	7/10	OMIM:616040
127833	SYT2	HP:0001761	Pes cavus	HP:0040283	ORPHA:98914
127833	SYT2	HP:0000514	Slow saccadic eye movements	3/14	OMIM:619461
127833	SYT2	HP:0000508	Ptosis	HP:0040281	ORPHA:98914
127833	SYT2	HP:0000565	Esotropia	HP:0040284	ORPHA:98914
128178	EDARADD	HP:0001106	Periorbital hyperpigmentation	1/1	OMIM:224900
128178	EDARADD	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:248
128178	EDARADD	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:1810
128178	EDARADD	HP:0002561	Absent nipple	HP:0040283	OMIM:614940
128178	EDARADD	HP:0002561	Absent nipple	HP:0040283	OMIM:614941
128178	EDARADD	HP:0002557	Hypoplastic nipples	-	OMIM:614941
128178	EDARADD	HP:0000007	Autosomal recessive inheritance	-	OMIM:224900
128178	EDARADD	HP:0000007	Autosomal recessive inheritance	-	OMIM:614941
128178	EDARADD	HP:0000006	Autosomal dominant inheritance	-	OMIM:129490
128178	EDARADD	HP:0000006	Autosomal dominant inheritance	-	OMIM:614940
128178	EDARADD	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:1810
128178	EDARADD	HP:0006342	Peg-shaped maxillary lateral incisors	HP:0040283	ORPHA:99798
128178	EDARADD	HP:0006344	Abnormal primary molar morphology	HP:0040283	ORPHA:99798
128178	EDARADD	HP:0006336	Short dental root	HP:0040282	ORPHA:99798
128178	EDARADD	HP:0006323	Premature loss of primary teeth	HP:0040281	ORPHA:248
128178	EDARADD	HP:0006323	Premature loss of primary teeth	HP:0040281	ORPHA:1810
128178	EDARADD	HP:0007607	Hypohidrotic ectodermal dysplasia	-	OMIM:614940
128178	EDARADD	HP:0007607	Hypohidrotic ectodermal dysplasia	-	OMIM:224900
128178	EDARADD	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:99798
128178	EDARADD	HP:0006289	Agenesis of central incisor	HP:0040282	ORPHA:99798
128178	EDARADD	HP:0002007	Frontal bossing	-	OMIM:224900
128178	EDARADD	HP:0002047	Malignant hyperthermia	HP:0040283	ORPHA:1810
128178	EDARADD	HP:0002046	Heat intolerance	1/10	OMIM:129490
128178	EDARADD	HP:0002046	Heat intolerance	1/1	OMIM:224900
128178	EDARADD	HP:0002223	Absent eyebrow	2/2	OMIM:614941
128178	EDARADD	HP:0002217	Slow-growing hair	-	OMIM:129490
128178	EDARADD	HP:0002231	Sparse body hair	-	OMIM:614941
128178	EDARADD	HP:0002231	Sparse body hair	HP:0040281	ORPHA:1810
128178	EDARADD	HP:0002213	Fine hair	-	OMIM:129490
128178	EDARADD	HP:0002213	Fine hair	HP:0040281	ORPHA:248
128178	EDARADD	HP:0002209	Sparse scalp hair	2/2	OMIM:614941
128178	EDARADD	HP:0002205	Recurrent respiratory infections	2/2	OMIM:614941
128178	EDARADD	HP:0002298	Absent hair	-	OMIM:614940
128178	EDARADD	HP:0002299	Brittle hair	3/3	OMIM:614940
128178	EDARADD	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:248
128178	EDARADD	HP:0001000	Abnormality of skin pigmentation	HP:0040283	ORPHA:1810
128178	EDARADD	HP:0010803	Everted upper lip vermilion	-	OMIM:224900
128178	EDARADD	HP:0000607	Periorbital wrinkles	1/1	OMIM:224900
128178	EDARADD	HP:0000607	Periorbital wrinkles	-	OMIM:614941
128178	EDARADD	HP:0000696	Delayed eruption of permanent teeth	HP:0040282	ORPHA:99798
128178	EDARADD	HP:0000698	Conical tooth	-	OMIM:614941
128178	EDARADD	HP:0000698	Conical tooth	1/1	OMIM:224900
128178	EDARADD	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:99798
128178	EDARADD	HP:0000679	Taurodontia	HP:0040283	ORPHA:99798
128178	EDARADD	HP:0000674	Anodontia	-	OMIM:129490
128178	EDARADD	HP:0000674	Anodontia	-	OMIM:224900
128178	EDARADD	HP:0000677	Oligodontia	1/1	OMIM:614940
128178	EDARADD	HP:0000677	Oligodontia	1/1	OMIM:224900
128178	EDARADD	HP:0000677	Oligodontia	HP:0040280	ORPHA:99798
128178	EDARADD	HP:0000691	Microdontia	-	OMIM:129490
128178	EDARADD	HP:0000691	Microdontia	1/1	OMIM:224900
128178	EDARADD	HP:0000691	Microdontia	HP:0040282	ORPHA:99798
128178	EDARADD	HP:0000690	Agenesis of maxillary lateral incisor	HP:0040282	ORPHA:99798
128178	EDARADD	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:99798
128178	EDARADD	HP:0000685	Hypoplasia of teeth	HP:0040281	ORPHA:248
128178	EDARADD	HP:0000685	Hypoplasia of teeth	HP:0040283	ORPHA:99798
128178	EDARADD	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:99798
128178	EDARADD	HP:0000653	Sparse eyelashes	-	OMIM:614941
128178	EDARADD	HP:0000653	Sparse eyelashes	-	OMIM:129490
128178	EDARADD	HP:0000653	Sparse eyelashes	1/1	OMIM:224900
128178	EDARADD	HP:0000668	Hypodontia	3/3	OMIM:614940
128178	EDARADD	HP:0000668	Hypodontia	12/12	OMIM:614941
128178	EDARADD	HP:0000668	Hypodontia	2/10	OMIM:129490
128178	EDARADD	HP:0000668	Hypodontia	-	OMIM:224900
128178	EDARADD	HP:0000668	Hypodontia	HP:0040281	ORPHA:1810
128178	EDARADD	HP:0011463	Childhood onset	1/1	OMIM:224900
128178	EDARADD	HP:0045075	Sparse eyebrow	8/10	OMIM:129490
128178	EDARADD	HP:0045075	Sparse eyebrow	1/1	OMIM:224900
128178	EDARADD	HP:0000958	Dry skin	-	OMIM:614940
128178	EDARADD	HP:0000958	Dry skin	2/2	OMIM:614941
128178	EDARADD	HP:0000958	Dry skin	HP:0040281	ORPHA:248
128178	EDARADD	HP:0000958	Dry skin	-	OMIM:129490
128178	EDARADD	HP:0000970	Anhidrosis	-	OMIM:614940
128178	EDARADD	HP:0000970	Anhidrosis	-	OMIM:614941
128178	EDARADD	HP:0000970	Anhidrosis	-	OMIM:224900
128178	EDARADD	HP:0000968	Ectodermal dysplasia	HP:0040280	OMIM:614941
128178	EDARADD	HP:0000968	Ectodermal dysplasia	-	OMIM:129490
128178	EDARADD	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:1810
128178	EDARADD	HP:0000966	Hypohidrosis	3/3	OMIM:614940
128178	EDARADD	HP:0000966	Hypohidrosis	10/10	OMIM:129490
128178	EDARADD	HP:0000966	Hypohidrosis	1/1	OMIM:224900
128178	EDARADD	HP:0000966	Hypohidrosis	HP:0040282	ORPHA:248
128178	EDARADD	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:1810
128178	EDARADD	HP:0000963	Thin skin	HP:0040281	ORPHA:1810
128178	EDARADD	HP:0008070	Sparse hair	3/3	OMIM:614940
128178	EDARADD	HP:0008070	Sparse hair	-	OMIM:614941
128178	EDARADD	HP:0008070	Sparse hair	HP:0040281	ORPHA:1810
128178	EDARADD	HP:0008070	Sparse hair	-	OMIM:129490
128178	EDARADD	HP:0008070	Sparse hair	1/1	OMIM:224900
128178	EDARADD	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:248
128178	EDARADD	HP:0001596	Alopecia	HP:0040282	ORPHA:248
128178	EDARADD	HP:0000217	Xerostomia	2/2	OMIM:614941
128178	EDARADD	HP:0000232	Everted lower lip vermilion	-	OMIM:614940
128178	EDARADD	HP:0000232	Everted lower lip vermilion	-	OMIM:614941
128178	EDARADD	HP:0000232	Everted lower lip vermilion	-	OMIM:224900
128178	EDARADD	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:99798
128178	EDARADD	HP:0011078	Abnormality of canine	HP:0040283	ORPHA:99798
128178	EDARADD	HP:0011053	Agenesis of mandibular premolar	HP:0040283	ORPHA:99798
128178	EDARADD	HP:0011051	Agenesis of premolar	HP:0040282	ORPHA:99798
128178	EDARADD	HP:0011056	Agenesis of first permanent molar tooth	HP:0040282	ORPHA:99798
128178	EDARADD	HP:0012384	Rhinitis	2/2	OMIM:614941
128178	EDARADD	HP:0005216	Impaired mastication	HP:0040281	ORPHA:99798
128178	EDARADD	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:248
128178	EDARADD	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:99798
128178	EDARADD	HP:0006482	Abnormal dental morphology	HP:0040281	ORPHA:1810
128178	EDARADD	HP:0005338	Sparse lateral eyebrow	-	OMIM:614941
128178	EDARADD	HP:0005280	Depressed nasal bridge	-	OMIM:614941
128178	EDARADD	HP:0005280	Depressed nasal bridge	1/1	OMIM:224900
128178	EDARADD	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:1810
128178	EDARADD	HP:0012471	Thick vermilion border	-	OMIM:224900
128178	EDARADD	HP:0012472	Eclabion	HP:0040283	ORPHA:99798
128178	EDARADD	HP:0000457	Depressed nasal ridge	HP:0040283	ORPHA:1810
128178	EDARADD	HP:0001807	Ridged nail	1/10	OMIM:129490
128178	EDARADD	HP:0000561	Absent eyelashes	2/2	OMIM:614941
128178	EDARADD	HP:0011219	Short face	HP:0040283	ORPHA:99798
128178	EDARADD	HP:0011220	Prominent forehead	HP:0040283	ORPHA:1810
128240	NAXE	HP:0002490	Increased CSF lactate	6/6	OMIM:617186
128240	NAXE	HP:0001298	Encephalopathy	5/5	OMIM:617186
128240	NAXE	HP:0001250	Seizure	3/12	OMIM:617186
128240	NAXE	HP:0001252	Hypotonia	7/12	OMIM:617186
128240	NAXE	HP:0001251	Ataxia	4/6	OMIM:617186
128240	NAXE	HP:0001260	Dysarthria	1/6	OMIM:617186
128240	NAXE	HP:0001263	Global developmental delay	-	OMIM:617186
128240	NAXE	HP:0001259	Coma	6/6	OMIM:617186
128240	NAXE	HP:0003819	Death in childhood	10/11	OMIM:617186
128240	NAXE	HP:0000007	Autosomal recessive inheritance	-	OMIM:617186
128240	NAXE	HP:0001337	Tremor	1/6	OMIM:617186
128240	NAXE	HP:0030915	Cerebellar edema	8/12	OMIM:617186
128240	NAXE	HP:0002063	Rigidity	1/6	OMIM:617186
128240	NAXE	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:617186
128240	NAXE	HP:0002119	Ventriculomegaly	3/6	OMIM:617186
128240	NAXE	HP:0011922	Abnormal activity of mitochondrial respiratory chain	0/5	OMIM:617186
128240	NAXE	HP:0002181	Cerebral edema	3/6	OMIM:617186
128240	NAXE	HP:0002196	Myelopathy	3/3	OMIM:617186
128240	NAXE	HP:0046507	Bradypnea	2/6	OMIM:617186
128240	NAXE	HP:0003593	Infantile onset	6/11	OMIM:617186
128240	NAXE	HP:0002273	Tetraparesis	2/6	OMIM:617186
128240	NAXE	HP:0002283	Global brain atrophy	1/6	OMIM:617186
128240	NAXE	HP:0002376	Developmental regression	6/11	OMIM:617186
128240	NAXE	HP:0002352	Leukoencephalopathy	-	OMIM:617186
128240	NAXE	HP:0003678	Rapidly progressive	-	OMIM:617186
128240	NAXE	HP:0002318	Cervical myelopathy	2/6	OMIM:617186
128240	NAXE	HP:0200041	Skin erosion	-	OMIM:617186
128240	NAXE	HP:0006897	Abducens palsy	1/6	OMIM:617186
128240	NAXE	HP:0000639	Nystagmus	7/12	OMIM:617186
128240	NAXE	HP:0000737	Irritability	1/6	OMIM:617186
128240	NAXE	HP:0012706	Elevated brain choline level by MRS	1/1	OMIM:617186
128240	NAXE	HP:0000711	Restlessness	1/6	OMIM:617186
128240	NAXE	HP:0011463	Childhood onset	5/6	OMIM:617186
128240	NAXE	HP:0012762	Cerebral white matter atrophy	1/5	OMIM:617186
128240	NAXE	HP:0003128	Lactic acidosis	-	OMIM:617186
128240	NAXE	HP:0002878	Respiratory failure	5/5	OMIM:617186
128240	NAXE	HP:0012378	Fatigue	1/6	OMIM:617186
128240	NAXE	HP:0032794	Myoclonic seizure	1/6	OMIM:617186
128240	NAXE	HP:0000486	Strabismus	1/6	OMIM:617186
128240	NAXE	HP:0012444	Brain atrophy	-	OMIM:617186
128240	NAXE	HP:0000473	Torticollis	1/6	OMIM:617186
128240	NAXE	HP:0000511	Vertical supranuclear gaze palsy	1/6	OMIM:617186
128338	DRAM2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
128338	DRAM2	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
128338	DRAM2	HP:0007401	Macular atrophy	-	OMIM:616502
128338	DRAM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616502
128338	DRAM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
128338	DRAM2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
128338	DRAM2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
128338	DRAM2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
128338	DRAM2	HP:0007663	Reduced visual acuity	-	OMIM:616502
128338	DRAM2	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
128338	DRAM2	HP:0003621	Juvenile onset	8/19	OMIM:180100
128338	DRAM2	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
128338	DRAM2	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
128338	DRAM2	HP:0000613	Photophobia	HP:0040283	OMIM:616502
128338	DRAM2	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
128338	DRAM2	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
128338	DRAM2	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
128338	DRAM2	HP:0000662	Nyctalopia	HP:0040283	OMIM:616502
128338	DRAM2	HP:0000662	Nyctalopia	26/28	OMIM:180100
128338	DRAM2	HP:0011463	Childhood onset	3/19	OMIM:180100
128338	DRAM2	HP:0011462	Young adult onset	8/19	OMIM:180100
128338	DRAM2	HP:0011462	Young adult onset	-	OMIM:616502
128338	DRAM2	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
128338	DRAM2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
128338	DRAM2	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
128338	DRAM2	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
128338	DRAM2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
128338	DRAM2	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
128338	DRAM2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
128338	DRAM2	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
128338	DRAM2	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
128338	DRAM2	HP:0000575	Scotoma	5/18	OMIM:180100
128338	DRAM2	HP:0000556	Retinal dystrophy	-	OMIM:616502
128338	DRAM2	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
128338	DRAM2	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
128338	DRAM2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
128338	DRAM2	HP:0000545	Myopia	-	OMIM:180100
128486	FITM2	HP:0002451	Limb dystonia	3/5	OMIM:618635
128486	FITM2	HP:0007210	Lower limb amyotrophy	-	OMIM:618635
128486	FITM2	HP:0001270	Motor delay	5/5	OMIM:618635
128486	FITM2	HP:0001250	Seizure	1/5	OMIM:618635
128486	FITM2	HP:0001263	Global developmental delay	5/5	OMIM:618635
128486	FITM2	HP:0001371	Flexion contracture	3/5	OMIM:618635
128486	FITM2	HP:0000020	Urinary incontinence	1/5	OMIM:618635
128486	FITM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618635
128486	FITM2	HP:0002376	Developmental regression	-	OMIM:618635
128486	FITM2	HP:0031936	Delayed ability to walk	5/5	OMIM:618635
128486	FITM2	HP:0008064	Ichthyosis	5/5	OMIM:618635
128486	FITM2	HP:0000407	Sensorineural hearing impairment	5/5	OMIM:618635
128486	FITM2	HP:0001761	Pes cavus	3/5	OMIM:618635
128637	TBC1D20	HP:0010864	Intellectual disability, severe	2/7	OMIM:615663
128637	TBC1D20	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0001290	Generalized hypotonia	4/7	OMIM:615663
128637	TBC1D20	HP:0001272	Cerebellar atrophy	3/7	OMIM:615663
128637	TBC1D20	HP:0001250	Seizure	2/7	OMIM:615663
128637	TBC1D20	HP:0001250	Seizure	HP:0040283	ORPHA:2510
128637	TBC1D20	HP:0001252	Hypotonia	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0001257	Spasticity	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0008734	Decreased testicular size	1/2	OMIM:615663
128637	TBC1D20	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:2510
128637	TBC1D20	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0002540	Inability to walk	7/7	OMIM:615663
128637	TBC1D20	HP:0002510	Spastic tetraplegia	-	OMIM:615663
128637	TBC1D20	HP:0000064	Hypoplastic labia minora	HP:0040282	ORPHA:2510
128637	TBC1D20	HP:0000060	Clitoral hypoplasia	HP:0040282	ORPHA:2510
128637	TBC1D20	HP:0000046	Small scrotum	1/2	OMIM:615663
128637	TBC1D20	HP:0001371	Flexion contracture	2/7	OMIM:615663
128637	TBC1D20	HP:0000054	Micropenis	2/2	OMIM:615663
128637	TBC1D20	HP:0001387	Joint stiffness	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0000028	Cryptorchidism	2/2	OMIM:615663
128637	TBC1D20	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0008872	Feeding difficulties in infancy	4/7	OMIM:615663
128637	TBC1D20	HP:0008850	Severe postnatal growth retardation	7/7	OMIM:615663
128637	TBC1D20	HP:0001344	Absent speech	4/7	OMIM:615663
128637	TBC1D20	HP:0001339	Lissencephaly	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0000007	Autosomal recessive inheritance	-	OMIM:615663
128637	TBC1D20	HP:0001302	Pachygyria	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:2510
128637	TBC1D20	HP:0002650	Scoliosis	HP:0040282	ORPHA:2510
128637	TBC1D20	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:2510
128637	TBC1D20	HP:0000160	Narrow mouth	-	OMIM:615663
128637	TBC1D20	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2510
128637	TBC1D20	HP:0100542	Abnormal localization of kidney	HP:0040283	ORPHA:2510
128637	TBC1D20	HP:0002079	Hypoplasia of the corpus callosum	4/7	OMIM:615663
128637	TBC1D20	HP:0003487	Babinski sign	2/7	OMIM:615663
128637	TBC1D20	HP:0002120	Cerebral cortical atrophy	4/7	OMIM:615663
128637	TBC1D20	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:2510
128637	TBC1D20	HP:0002133	Status epilepticus	1/7	OMIM:615663
128637	TBC1D20	HP:0003431	Decreased motor nerve conduction velocity	2/2	OMIM:615663
128637	TBC1D20	HP:0002187	Intellectual disability, profound	5/7	OMIM:615663
128637	TBC1D20	HP:0003577	Congenital onset	7/7	OMIM:615663
128637	TBC1D20	HP:0100704	Cerebral visual impairment	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0002230	Generalized hirsutism	HP:0040282	ORPHA:2510
128637	TBC1D20	HP:0002360	Sleep abnormality	5/7	OMIM:615663
128637	TBC1D20	HP:0001007	Hirsutism	1/7	OMIM:615663
128637	TBC1D20	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:2510
128637	TBC1D20	HP:0000649	Abnormality of visual evoked potentials	HP:0040282	ORPHA:2510
128637	TBC1D20	HP:0000648	Optic atrophy	-	OMIM:615663
128637	TBC1D20	HP:0000648	Optic atrophy	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0012650	Perisylvian polymicrogyria	4/7	OMIM:615663
128637	TBC1D20	HP:0004322	Short stature	5/5	OMIM:615663
128637	TBC1D20	HP:0004322	Short stature	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0000750	Delayed speech and language development	7/7	OMIM:615663
128637	TBC1D20	HP:0003199	Decreased muscle mass	-	OMIM:615663
128637	TBC1D20	HP:0003196	Short nose	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0000823	Delayed puberty	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:2510
128637	TBC1D20	HP:0000294	Low anterior hairline	1/7	OMIM:615663
128637	TBC1D20	HP:0002808	Kyphosis	HP:0040282	ORPHA:2510
128637	TBC1D20	HP:0000252	Microcephaly	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0000248	Brachycephaly	2/7	OMIM:615663
128637	TBC1D20	HP:0000218	High palate	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:2510
128637	TBC1D20	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2510
128637	TBC1D20	HP:0000343	Long philtrum	1/7	OMIM:615663
128637	TBC1D20	HP:0000347	Micrognathia	HP:0040282	ORPHA:2510
128637	TBC1D20	HP:0000322	Short philtrum	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0000400	Macrotia	HP:0040282	ORPHA:2510
128637	TBC1D20	HP:0000480	Retinal coloboma	HP:0040283	ORPHA:2510
128637	TBC1D20	HP:0000482	Microcornea	3/4	OMIM:615663
128637	TBC1D20	HP:0000482	Microcornea	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0000490	Deeply set eye	4/7	OMIM:615663
128637	TBC1D20	HP:0000463	Anteverted nares	1/7	OMIM:615663
128637	TBC1D20	HP:0000463	Anteverted nares	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0000426	Prominent nasal bridge	2/7	OMIM:615663
128637	TBC1D20	HP:0005484	Secondary microcephaly	7/7	OMIM:615663
128637	TBC1D20	HP:0000518	Cataract	HP:0040281	ORPHA:2510
128637	TBC1D20	HP:0000519	Developmental cataract	7/7	OMIM:615663
128637	TBC1D20	HP:0000508	Ptosis	2/7	OMIM:615663
128637	TBC1D20	HP:0000505	Visual impairment	5/5	OMIM:615663
128637	TBC1D20	HP:0000501	Glaucoma	6/6	OMIM:615663
128637	TBC1D20	HP:0000568	Microphthalmia	3/4	OMIM:615663
128637	TBC1D20	HP:0000568	Microphthalmia	HP:0040281	ORPHA:2510
128674	PROKR2	HP:0003782	Eunuchoid habitus	HP:0040281	ORPHA:432
128674	PROKR2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
128674	PROKR2	HP:0001293	Cranial nerve compression	-	OMIM:131300
128674	PROKR2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:3157
128674	PROKR2	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
128674	PROKR2	HP:0001250	Seizure	HP:0040282	ORPHA:3157
128674	PROKR2	HP:0001250	Seizure	HP:0040283	ORPHA:95496
128674	PROKR2	HP:0001250	Seizure	1/10	OMIM:244200
128674	PROKR2	HP:0001250	Seizure	HP:0040283	ORPHA:478
128674	PROKR2	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
128674	PROKR2	HP:0001252	Hypotonia	2/7	OMIM:615777
128674	PROKR2	HP:0001251	Ataxia	HP:0040283	ORPHA:478
128674	PROKR2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3157
128674	PROKR2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:95496
128674	PROKR2	HP:0001249	Intellectual disability	5/7	OMIM:615777
128674	PROKR2	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
128674	PROKR2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:3157
128674	PROKR2	HP:0001263	Global developmental delay	HP:0040283	ORPHA:95496
128674	PROKR2	HP:0001263	Global developmental delay	-	OMIM:615777
128674	PROKR2	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:3157
128674	PROKR2	HP:0100842	Septo-optic dysplasia	HP:0040283	ORPHA:95496
128674	PROKR2	HP:0100842	Septo-optic dysplasia	HP:0040281	ORPHA:3157
128674	PROKR2	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:432
128674	PROKR2	HP:0008734	Decreased testicular size	1/1	OMIM:146110
128674	PROKR2	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
128674	PROKR2	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:95496
128674	PROKR2	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:3157
128674	PROKR2	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
128674	PROKR2	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:432
128674	PROKR2	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:3157
128674	PROKR2	HP:0002515	Waddling gait	54/102	OMIM:131300
128674	PROKR2	HP:0003829	Typified by incomplete penetrance	-	OMIM:244200
128674	PROKR2	HP:0006094	Finger joint hypermobility	1/10	OMIM:244200
128674	PROKR2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:432
128674	PROKR2	HP:0000044	Hypogonadotropic hypogonadism	-	OMIM:244200
128674	PROKR2	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
128674	PROKR2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
128674	PROKR2	HP:0000054	Micropenis	-	OMIM:244200
128674	PROKR2	HP:0000054	Micropenis	1/1	OMIM:146110
128674	PROKR2	HP:0000054	Micropenis	HP:0040281	ORPHA:478
128674	PROKR2	HP:0000054	Micropenis	HP:0040281	ORPHA:432
128674	PROKR2	HP:0001382	Joint hypermobility	-	OMIM:615777
128674	PROKR2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
128674	PROKR2	HP:0000026	Male hypogonadism	HP:0040281	ORPHA:432
128674	PROKR2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3157
128674	PROKR2	HP:0000028	Cryptorchidism	2/8	OMIM:244200
128674	PROKR2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:95496
128674	PROKR2	HP:0000028	Cryptorchidism	-	OMIM:146110
128674	PROKR2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
128674	PROKR2	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:432
128674	PROKR2	HP:0000027	Azoospermia	HP:0040281	ORPHA:432
128674	PROKR2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
128674	PROKR2	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:3157
128674	PROKR2	HP:0000002	Abnormality of body height	HP:0040282	ORPHA:432
128674	PROKR2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
128674	PROKR2	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
128674	PROKR2	HP:0001324	Muscle weakness	40/96	OMIM:131300
128674	PROKR2	HP:0000013	Hypoplasia of the uterus	HP:0040282	ORPHA:432
128674	PROKR2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
128674	PROKR2	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
128674	PROKR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
128674	PROKR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
128674	PROKR2	HP:0001335	Bimanual synkinesia	2/10	OMIM:244200
128674	PROKR2	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
128674	PROKR2	HP:0001337	Tremor	HP:0040283	ORPHA:478
128674	PROKR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
128674	PROKR2	HP:0000006	Autosomal dominant inheritance	-	OMIM:244200
128674	PROKR2	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
128674	PROKR2	HP:0002650	Scoliosis	12/14	OMIM:131300
128674	PROKR2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
128674	PROKR2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
128674	PROKR2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
128674	PROKR2	HP:0032466	Aplasia of the olfactory bulb	4/6	OMIM:244200
128674	PROKR2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
128674	PROKR2	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:432
128674	PROKR2	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
128674	PROKR2	HP:0000175	Cleft palate	HP:0040283	ORPHA:432
128674	PROKR2	HP:0000175	Cleft palate	HP:0040282	ORPHA:3157
128674	PROKR2	HP:0000175	Cleft palate	-	OMIM:244200
128674	PROKR2	HP:0000175	Cleft palate	2/7	OMIM:615777
128674	PROKR2	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
128674	PROKR2	HP:0000122	Unilateral renal agenesis	-	OMIM:244200
128674	PROKR2	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:432
128674	PROKR2	HP:0000134	Female hypogonadism	HP:0040281	ORPHA:432
128674	PROKR2	HP:0002761	Generalized joint hypermobility	HP:0040283	ORPHA:432
128674	PROKR2	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
128674	PROKR2	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
128674	PROKR2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
128674	PROKR2	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:432
128674	PROKR2	HP:0002019	Constipation	HP:0040283	ORPHA:3157
128674	PROKR2	HP:0002032	Esophageal atresia	HP:0040283	ORPHA:3157
128674	PROKR2	HP:0003388	Easy fatigability	36/76	OMIM:131300
128674	PROKR2	HP:0011755	Ectopic posterior pituitary	HP:0040280	ORPHA:95496
128674	PROKR2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
128674	PROKR2	HP:0008197	Absence of pubertal development	HP:0040281	ORPHA:432
128674	PROKR2	HP:0008187	Absence of secondary sex characteristics	HP:0040281	ORPHA:432
128674	PROKR2	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
128674	PROKR2	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
128674	PROKR2	HP:0002231	Sparse body hair	HP:0040281	ORPHA:432
128674	PROKR2	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
128674	PROKR2	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:432
128674	PROKR2	HP:0010627	Anterior pituitary hypoplasia	HP:0040282	ORPHA:3157
128674	PROKR2	HP:0003510	Severe short stature	7/7	OMIM:615777
128674	PROKR2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:3157
128674	PROKR2	HP:0002315	Headache	-	OMIM:131300
128674	PROKR2	HP:0004976	Knee dislocation	6/7	OMIM:615777
128674	PROKR2	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:432
128674	PROKR2	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
128674	PROKR2	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:3157
128674	PROKR2	HP:0009803	Short phalanx of finger	-	OMIM:615777
128674	PROKR2	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
128674	PROKR2	HP:0009763	Limb pain	63/92	OMIM:131300
128674	PROKR2	HP:0003621	Juvenile onset	2/2	OMIM:146110
128674	PROKR2	HP:0003621	Juvenile onset	-	OMIM:131300
128674	PROKR2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
128674	PROKR2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
128674	PROKR2	HP:0000639	Nystagmus	HP:0040282	ORPHA:3157
128674	PROKR2	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
128674	PROKR2	HP:6001056	Out-toeing	-	OMIM:131300
128674	PROKR2	HP:0000651	Diplopia	-	OMIM:131300
128674	PROKR2	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:95496
128674	PROKR2	HP:0001959	Polydipsia	HP:0040283	ORPHA:3157
128674	PROKR2	HP:0001956	Truncal obesity	2/7	OMIM:615777
128674	PROKR2	HP:0000609	Optic nerve hypoplasia	HP:0040281	ORPHA:3157
128674	PROKR2	HP:0000601	Hypotelorism	-	OMIM:244200
128674	PROKR2	HP:0001903	Anemia	HP:0040283	OMIM:131300
128674	PROKR2	HP:0010049	Short metacarpal	-	OMIM:615777
128674	PROKR2	HP:0000678	Dental crowding	-	OMIM:615777
128674	PROKR2	HP:0000670	Carious teeth	-	OMIM:131300
128674	PROKR2	HP:0011304	Broad thumb	2/7	OMIM:615777
128674	PROKR2	HP:0000668	Hypodontia	-	OMIM:615777
128674	PROKR2	HP:0000664	Synophrys	-	OMIM:615777
128674	PROKR2	HP:0004322	Short stature	HP:0040282	ORPHA:3157
128674	PROKR2	HP:0004322	Short stature	HP:0040281	ORPHA:95496
128674	PROKR2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
128674	PROKR2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:3157
128674	PROKR2	HP:0000802	Impotence	HP:0040281	ORPHA:432
128674	PROKR2	HP:0004396	Poor appetite	-	OMIM:131300
128674	PROKR2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
128674	PROKR2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
128674	PROKR2	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:3157
128674	PROKR2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
128674	PROKR2	HP:0003026	Short long bone	7/7	OMIM:615777
128674	PROKR2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
128674	PROKR2	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
128674	PROKR2	HP:0000771	Gynecomastia	HP:0040282	ORPHA:432
128674	PROKR2	HP:0000771	Gynecomastia	0/1	OMIM:146110
128674	PROKR2	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
128674	PROKR2	HP:0000767	Pectus excavatum	2/10	OMIM:244200
128674	PROKR2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
128674	PROKR2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
128674	PROKR2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
128674	PROKR2	HP:0000739	Anxiety	HP:0040282	ORPHA:432
128674	PROKR2	HP:0000750	Delayed speech and language development	-	OMIM:615777
128674	PROKR2	HP:0000716	Depression	HP:0040282	ORPHA:432
128674	PROKR2	HP:0000717	Autism	HP:0040283	ORPHA:3157
128674	PROKR2	HP:0011461	Fetal onset	7/7	OMIM:615777
128674	PROKR2	HP:0000774	Narrow chest	2/7	OMIM:615777
128674	PROKR2	HP:0000789	Infertility	HP:0040283	OMIM:146110
128674	PROKR2	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:432
128674	PROKR2	HP:0000786	Primary amenorrhea	-	OMIM:244200
128674	PROKR2	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
128674	PROKR2	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:95496
128674	PROKR2	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
128674	PROKR2	HP:0004409	Hyposmia	5/10	OMIM:244200
128674	PROKR2	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
128674	PROKR2	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
128674	PROKR2	HP:0000926	Platyspondyly	1/7	OMIM:615777
128674	PROKR2	HP:0003187	Breast hypoplasia	HP:0040281	ORPHA:432
128674	PROKR2	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
128674	PROKR2	HP:0003180	Flat acetabular roof	-	OMIM:615777
128674	PROKR2	HP:0004482	Relative macrocephaly	-	OMIM:615777
128674	PROKR2	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
128674	PROKR2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
128674	PROKR2	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:95496
128674	PROKR2	HP:0000873	Diabetes insipidus	HP:0040283	ORPHA:3157
128674	PROKR2	HP:0000869	Secondary amenorrhea	HP:0040282	ORPHA:432
128674	PROKR2	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040281	ORPHA:95496
128674	PROKR2	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040282	ORPHA:3157
128674	PROKR2	HP:0000835	Adrenal hypoplasia	HP:0040283	ORPHA:95496
128674	PROKR2	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
128674	PROKR2	HP:0000821	Hypothyroidism	HP:0040282	ORPHA:95496
128674	PROKR2	HP:0000823	Delayed puberty	HP:0040282	ORPHA:432
128674	PROKR2	HP:0000823	Delayed puberty	-	OMIM:131300
128674	PROKR2	HP:0000823	Delayed puberty	HP:0040282	ORPHA:95496
128674	PROKR2	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
128674	PROKR2	HP:0000894	Short clavicles	-	OMIM:615777
128674	PROKR2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
128674	PROKR2	HP:0000958	Dry skin	HP:0040283	ORPHA:3157
128674	PROKR2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
128674	PROKR2	HP:0000966	Hypohidrosis	HP:0040283	ORPHA:3157
128674	PROKR2	HP:0000939	Osteoporosis	HP:0040282	ORPHA:432
128674	PROKR2	HP:0000938	Osteopenia	HP:0040282	ORPHA:432
128674	PROKR2	HP:0040171	Decreased serum testosterone concentration	HP:0040281	ORPHA:432
128674	PROKR2	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
128674	PROKR2	HP:0000286	Epicanthus	1/7	OMIM:615777
128674	PROKR2	HP:0000280	Coarse facial features	2/7	OMIM:615777
128674	PROKR2	HP:0002827	Hip dislocation	3/7	OMIM:615777
128674	PROKR2	HP:0000252	Microcephaly	-	OMIM:615777
128674	PROKR2	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
128674	PROKR2	HP:0030019	Increased female libido	HP:0040281	ORPHA:432
128674	PROKR2	HP:0002857	Genu valgum	-	OMIM:131300
128674	PROKR2	HP:0001522	Death in infancy	HP:0040283	ORPHA:95496
128674	PROKR2	HP:0001533	Slender build	-	OMIM:131300
128674	PROKR2	HP:0000204	Cleft upper lip	-	OMIM:244200
128674	PROKR2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:95496
128674	PROKR2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
128674	PROKR2	HP:0001513	Obesity	HP:0040283	ORPHA:478
128674	PROKR2	HP:0001513	Obesity	HP:0040283	ORPHA:3157
128674	PROKR2	HP:0007807	Optic nerve compression	-	OMIM:131300
128674	PROKR2	HP:0012378	Fatigue	HP:0040283	ORPHA:3157
128674	PROKR2	HP:0012385	Camptodactyly	HP:0040283	ORPHA:432
128674	PROKR2	HP:0012368	Flat face	7/7	OMIM:615777
128674	PROKR2	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:432
128674	PROKR2	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
128674	PROKR2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
128674	PROKR2	HP:0000365	Hearing impairment	1/10	OMIM:244200
128674	PROKR2	HP:0000365	Hearing impairment	10/67	OMIM:131300
128674	PROKR2	HP:0000343	Long philtrum	1/7	OMIM:615777
128674	PROKR2	HP:0011001	Increased bone mineral density	-	OMIM:131300
128674	PROKR2	HP:0000316	Hypertelorism	HP:0040283	ORPHA:432
128674	PROKR2	HP:0000311	Round face	2/7	OMIM:615777
128674	PROKR2	HP:0002970	Genu varum	-	OMIM:615777
128674	PROKR2	HP:0000303	Mandibular prognathia	-	OMIM:131300
128674	PROKR2	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:432
128674	PROKR2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:3157
128674	PROKR2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
128674	PROKR2	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:432
128674	PROKR2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
128674	PROKR2	HP:0000486	Strabismus	HP:0040282	ORPHA:3157
128674	PROKR2	HP:0000458	Anosmia	1/10	OMIM:244200
128674	PROKR2	HP:0000458	Anosmia	HP:0040283	ORPHA:3157
128674	PROKR2	HP:0000458	Anosmia	HP:0040281	ORPHA:478
128674	PROKR2	HP:0000470	Short neck	1/7	OMIM:615777
128674	PROKR2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
128674	PROKR2	HP:0001763	Pes planus	3/10	OMIM:244200
128674	PROKR2	HP:0001763	Pes planus	HP:0040283	ORPHA:478
128674	PROKR2	HP:0001763	Pes planus	1/7	OMIM:615777
128674	PROKR2	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
128674	PROKR2	HP:0001840	Metatarsus adductus	-	OMIM:615777
128674	PROKR2	HP:0000520	Proptosis	2/4	OMIM:131300
128674	PROKR2	HP:0000520	Proptosis	7/7	OMIM:615777
128674	PROKR2	HP:0000508	Ptosis	HP:0040283	ORPHA:478
128674	PROKR2	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
128674	PROKR2	HP:0000505	Visual impairment	HP:0040281	ORPHA:3157
128674	PROKR2	HP:0000592	Blue sclerae	2/7	OMIM:615777
128674	PROKR2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
128674	PROKR2	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
128674	PROKR2	HP:0012514	Lower limb pain	4/4	OMIM:131300
128866	CHMP4B	HP:0010923	Anterior subcapsular cataract	-	OMIM:605387
128866	CHMP4B	HP:0000006	Autosomal dominant inheritance	-	OMIM:605387
128866	CHMP4B	HP:0100018	Nuclear cataract	-	OMIM:605387
128866	CHMP4B	HP:0007787	Posterior subcapsular cataract	-	OMIM:605387
128869	PIGU	HP:0010864	Intellectual disability, severe	1/5	OMIM:618590
128869	PIGU	HP:0001272	Cerebellar atrophy	1/5	OMIM:618590
128869	PIGU	HP:0001250	Seizure	5/5	OMIM:618590
128869	PIGU	HP:0001252	Hypotonia	5/5	OMIM:618590
128869	PIGU	HP:0001257	Spasticity	2/5	OMIM:618590
128869	PIGU	HP:0001382	Joint hypermobility	1/5	OMIM:618590
128869	PIGU	HP:0000007	Autosomal recessive inheritance	-	OMIM:618590
128869	PIGU	HP:0001320	Cerebellar vermis hypoplasia	2/5	OMIM:618590
128869	PIGU	HP:0002650	Scoliosis	5/5	OMIM:618590
128869	PIGU	HP:0001321	Cerebellar hypoplasia	1/5	OMIM:618590
128869	PIGU	HP:0000154	Wide mouth	1/5	OMIM:618590
128869	PIGU	HP:0002719	Recurrent infections	2/5	OMIM:618590
128869	PIGU	HP:0002714	Downturned corners of mouth	1/5	OMIM:618590
128869	PIGU	HP:0002079	Hypoplasia of the corpus callosum	3/5	OMIM:618590
128869	PIGU	HP:0002059	Cerebral atrophy	1/5	OMIM:618590
128869	PIGU	HP:0011712	Complete right bundle branch block	1/5	OMIM:618590
128869	PIGU	HP:0002188	Delayed CNS myelination	3/5	OMIM:618590
128869	PIGU	HP:0002187	Intellectual disability, profound	4/5	OMIM:618590
128869	PIGU	HP:0100704	Cerebral visual impairment	3/5	OMIM:618590
128869	PIGU	HP:0002280	Enlarged cisterna magna	1/5	OMIM:618590
128869	PIGU	HP:0003623	Neonatal onset	-	OMIM:618590
128869	PIGU	HP:0000639	Nystagmus	2/5	OMIM:618590
128869	PIGU	HP:0000648	Optic atrophy	1/5	OMIM:618590
128869	PIGU	HP:0011344	Severe global developmental delay	1/5	OMIM:618590
128869	PIGU	HP:0012736	Profound global developmental delay	4/5	OMIM:618590
128869	PIGU	HP:0000767	Pectus excavatum	1/5	OMIM:618590
128869	PIGU	HP:0011471	Gastrostomy tube feeding in infancy	2/5	OMIM:618590
128869	PIGU	HP:0003100	Slender long bone	2/5	OMIM:618590
128869	PIGU	HP:0003196	Short nose	1/5	OMIM:618590
128869	PIGU	HP:0003189	Long nose	1/5	OMIM:618590
128869	PIGU	HP:0003155	Elevated circulating alkaline phosphatase concentration	0/5	OMIM:618590
128869	PIGU	HP:0000998	Hypertrichosis	2/5	OMIM:618590
128869	PIGU	HP:0000938	Osteopenia	1/1	OMIM:618590
128869	PIGU	HP:0000286	Epicanthus	1/5	OMIM:618590
128869	PIGU	HP:0000276	Long face	3/5	OMIM:618590
128869	PIGU	HP:0000272	Malar flattening	5/5	OMIM:618590
128869	PIGU	HP:0000238	Hydrocephalus	2/5	OMIM:618590
128869	PIGU	HP:0000219	Thin upper lip vermilion	3/5	OMIM:618590
128869	PIGU	HP:0000218	High palate	2/5	OMIM:618590
128869	PIGU	HP:0000358	Posteriorly rotated ears	2/5	OMIM:618590
128869	PIGU	HP:0000369	Low-set ears	1/5	OMIM:618590
128869	PIGU	HP:0000341	Narrow forehead	1/5	OMIM:618590
128869	PIGU	HP:0000337	Broad forehead	1/5	OMIM:618590
128869	PIGU	HP:0000348	High forehead	3/5	OMIM:618590
128869	PIGU	HP:0000319	Smooth philtrum	5/5	OMIM:618590
128869	PIGU	HP:0000307	Pointed chin	1/5	OMIM:618590
128869	PIGU	HP:0005280	Depressed nasal bridge	1/5	OMIM:618590
128869	PIGU	HP:0000486	Strabismus	5/5	OMIM:618590
128869	PIGU	HP:0000490	Deeply set eye	1/5	OMIM:618590
128869	PIGU	HP:0000506	Telecanthus	1/5	OMIM:618590
128869	PIGU	HP:0000540	Hypermetropia	2/5	OMIM:618590
128989	TANGO2	HP:0001297	Stroke	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0001290	Generalized hypotonia	-	OMIM:616878
128989	TANGO2	HP:0001276	Hypertonia	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0001270	Motor delay	1/1	OMIM:616878
128989	TANGO2	HP:0001288	Gait disturbance	-	OMIM:616878
128989	TANGO2	HP:0001250	Seizure	9/12	OMIM:616878
128989	TANGO2	HP:0001250	Seizure	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0001251	Ataxia	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0001251	Ataxia	2/2	OMIM:616878
128989	TANGO2	HP:0002579	Gastrointestinal dysmotility	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0001249	Intellectual disability	13/13	OMIM:616878
128989	TANGO2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:480864
128989	TANGO2	HP:0001264	Spastic diplegia	HP:0040283	OMIM:616878
128989	TANGO2	HP:0001260	Dysarthria	2/2	OMIM:616878
128989	TANGO2	HP:0001263	Global developmental delay	14/14	OMIM:616878
128989	TANGO2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:480864
128989	TANGO2	HP:0001259	Coma	1/1	OMIM:616878
128989	TANGO2	HP:0002510	Spastic tetraplegia	HP:0040283	OMIM:616878
128989	TANGO2	HP:0001348	Brisk reflexes	2/2	OMIM:616878
128989	TANGO2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0031165	Multifocal seizures	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0001332	Dystonia	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0001332	Dystonia	HP:0040283	OMIM:616878
128989	TANGO2	HP:0001324	Muscle weakness	-	OMIM:616878
128989	TANGO2	HP:0001344	Absent speech	1/1	OMIM:616878
128989	TANGO2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616878
128989	TANGO2	HP:0008942	Acute rhabdomyolysis	-	OMIM:616878
128989	TANGO2	HP:0008942	Acute rhabdomyolysis	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0002015	Dysphagia	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0002066	Gait ataxia	-	OMIM:616878
128989	TANGO2	HP:0002061	Lower limb spasticity	2/2	OMIM:616878
128989	TANGO2	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0002058	Myopathic facies	4/4	OMIM:616878
128989	TANGO2	HP:0002059	Cerebral atrophy	4/11	OMIM:616878
128989	TANGO2	HP:0003487	Babinski sign	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0003487	Babinski sign	1/1	OMIM:616878
128989	TANGO2	HP:0002151	Increased circulating lactate concentration	HP:0040281	ORPHA:480864
128989	TANGO2	HP:0002151	Increased circulating lactate concentration	9/11	OMIM:616878
128989	TANGO2	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0002133	Status epilepticus	1/1	OMIM:616878
128989	TANGO2	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:480864
128989	TANGO2	HP:0004756	Ventricular tachycardia	4/12	OMIM:616878
128989	TANGO2	HP:0002180	Neurodegeneration	-	OMIM:616878
128989	TANGO2	HP:0002169	Clonus	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0002169	Clonus	1/1	OMIM:616878
128989	TANGO2	HP:0002173	Hypoglycemic seizures	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0008223	Compensated hypothyroidism	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0003593	Infantile onset	5/15	OMIM:616878
128989	TANGO2	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0200136	Oral-pharyngeal dysphagia	-	OMIM:616878
128989	TANGO2	HP:0002283	Global brain atrophy	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0002376	Developmental regression	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0002376	Developmental regression	1/1	OMIM:616878
128989	TANGO2	HP:0002370	Poor coordination	-	OMIM:616878
128989	TANGO2	HP:6000476	Elevated circulating tetradecenoylcarnitine concentration	5/6	OMIM:616878
128989	TANGO2	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0002311	Incoordination	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0002307	Drooling	3/3	OMIM:616878
128989	TANGO2	HP:0003621	Juvenile onset	2/12	OMIM:616878
128989	TANGO2	HP:0006801	Hyperactive deep tendon reflexes	-	OMIM:616878
128989	TANGO2	HP:0000639	Nystagmus	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0000646	Amblyopia	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0000648	Optic atrophy	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0000648	Optic atrophy	HP:0040283	OMIM:616878
128989	TANGO2	HP:0001943	Hypoglycemia	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0001943	Hypoglycemia	11/14	OMIM:616878
128989	TANGO2	HP:0001942	Metabolic acidosis	1/1	OMIM:616878
128989	TANGO2	HP:0000605	Supranuclear gaze palsy	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0011344	Severe global developmental delay	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0011343	Moderate global developmental delay	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0001987	Hyperammonemia	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0001987	Hyperammonemia	9/11	OMIM:616878
128989	TANGO2	HP:0031956	Elevated circulating aspartate aminotransferase concentration	6/6	OMIM:616878
128989	TANGO2	HP:0031964	Elevated circulating alanine aminotransferase concentration	6/6	OMIM:616878
128989	TANGO2	HP:0004305	Involuntary movements	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0031936	Delayed ability to walk	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0011463	Childhood onset	8/15	OMIM:616878
128989	TANGO2	HP:0003115	Abnormal EKG	HP:0040281	ORPHA:480864
128989	TANGO2	HP:0003128	Lactic acidosis	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0003128	Lactic acidosis	12/13	OMIM:616878
128989	TANGO2	HP:0000821	Hypothyroidism	-	OMIM:616878
128989	TANGO2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:480864
128989	TANGO2	HP:0003236	Elevated circulating creatine kinase concentration	14/14	OMIM:616878
128989	TANGO2	HP:0003201	Rhabdomyolysis	13/15	OMIM:616878
128989	TANGO2	HP:0045045	Elevated circulating acylcarnitine concentration	-	OMIM:616878
128989	TANGO2	HP:0045045	Elevated circulating acylcarnitine concentration	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0010314	Premature thelarche	HP:0040283	OMIM:616878
128989	TANGO2	HP:0011675	Arrhythmia	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0000252	Microcephaly	3/4	OMIM:616878
128989	TANGO2	HP:0000252	Microcephaly	HP:0040284	ORPHA:480864
128989	TANGO2	HP:0002919	Ketonuria	HP:0040281	ORPHA:480864
128989	TANGO2	HP:0002919	Ketonuria	-	OMIM:616878
128989	TANGO2	HP:0002913	Myoglobinuria	2/2	OMIM:616878
128989	TANGO2	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0005184	Prolonged QTc interval	8/13	OMIM:616878
128989	TANGO2	HP:0001695	Cardiac arrest	-	OMIM:616878
128989	TANGO2	HP:0001664	Torsade de pointes	3/13	OMIM:616878
128989	TANGO2	HP:0001663	Ventricular fibrillation	-	OMIM:616878
128989	TANGO2	HP:0001662	Bradycardia	1/12	OMIM:616878
128989	TANGO2	HP:0001657	Prolonged QT interval	HP:0040282	ORPHA:480864
128989	TANGO2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	OMIM:616878
128989	TANGO2	HP:0006682	Premature ventricular contraction	1/12	OMIM:616878
128989	TANGO2	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:480864
128989	TANGO2	HP:0000407	Sensorineural hearing impairment	3/11	OMIM:616878
128989	TANGO2	HP:0012469	Infantile spasms	HP:0040283	ORPHA:480864
128989	TANGO2	HP:0012411	Premature pubarche	HP:0040283	OMIM:616878
128989	TANGO2	HP:0012544	Elevated circulating aldolase concentration	1/1	OMIM:616878
129285	PPP1R21	HP:0009937	Facial hirsutism	3/9	OMIM:619383
129285	PPP1R21	HP:0009891	Underdeveloped supraorbital ridges	1/6	OMIM:619383
129285	PPP1R21	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
129285	PPP1R21	HP:0001293	Cranial nerve compression	-	OMIM:131300
129285	PPP1R21	HP:0001284	Areflexia	1/6	OMIM:619383
129285	PPP1R21	HP:0001252	Hypotonia	9/9	OMIM:619383
129285	PPP1R21	HP:0001252	Hypotonia	2/7	OMIM:615777
129285	PPP1R21	HP:0001249	Intellectual disability	5/7	OMIM:615777
129285	PPP1R21	HP:0001265	Hyporeflexia	3/3	OMIM:619383
129285	PPP1R21	HP:0001260	Dysarthria	2/6	OMIM:619383
129285	PPP1R21	HP:0001263	Global developmental delay	3/3	OMIM:619383
129285	PPP1R21	HP:0001263	Global developmental delay	-	OMIM:615777
129285	PPP1R21	HP:0002540	Inability to walk	2/6	OMIM:619383
129285	PPP1R21	HP:0002515	Waddling gait	54/102	OMIM:131300
129285	PPP1R21	HP:0001371	Flexion contracture	1/3	OMIM:619383
129285	PPP1R21	HP:0001382	Joint hypermobility	-	OMIM:615777
129285	PPP1R21	HP:0002694	Sclerosis of skull base	-	OMIM:131300
129285	PPP1R21	HP:0001357	Plagiocephaly	1/6	OMIM:619383
129285	PPP1R21	HP:0008897	Postnatal growth retardation	-	OMIM:615777
129285	PPP1R21	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
129285	PPP1R21	HP:0001324	Muscle weakness	40/96	OMIM:131300
129285	PPP1R21	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
129285	PPP1R21	HP:0000007	Autosomal recessive inheritance	-	OMIM:619383
129285	PPP1R21	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
129285	PPP1R21	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
129285	PPP1R21	HP:0001320	Cerebellar vermis hypoplasia	3/3	OMIM:619383
129285	PPP1R21	HP:0002650	Scoliosis	3/9	OMIM:619383
129285	PPP1R21	HP:0002650	Scoliosis	12/14	OMIM:131300
129285	PPP1R21	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
129285	PPP1R21	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
129285	PPP1R21	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
129285	PPP1R21	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
129285	PPP1R21	HP:0000175	Cleft palate	2/7	OMIM:615777
129285	PPP1R21	HP:0002750	Delayed skeletal maturation	2/6	OMIM:619383
129285	PPP1R21	HP:0002033	Poor suck	1/6	OMIM:619383
129285	PPP1R21	HP:0002098	Respiratory distress	6/9	OMIM:619383
129285	PPP1R21	HP:0002066	Gait ataxia	2/6	OMIM:619383
129285	PPP1R21	HP:0002079	Hypoplasia of the corpus callosum	2/3	OMIM:619383
129285	PPP1R21	HP:0003388	Easy fatigability	36/76	OMIM:131300
129285	PPP1R21	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
129285	PPP1R21	HP:0002119	Ventriculomegaly	3/3	OMIM:619383
129285	PPP1R21	HP:0010557	Overlapping fingers	1/6	OMIM:619383
129285	PPP1R21	HP:0002240	Hepatomegaly	2/9	OMIM:619383
129285	PPP1R21	HP:0002205	Recurrent respiratory infections	4/9	OMIM:619383
129285	PPP1R21	HP:0007018	Attention deficit hyperactivity disorder	2/6	OMIM:619383
129285	PPP1R21	HP:0011968	Feeding difficulties	7/9	OMIM:619383
129285	PPP1R21	HP:0003510	Severe short stature	7/7	OMIM:615777
129285	PPP1R21	HP:0002389	Cavum septum pellucidum	4/8	OMIM:619383
129285	PPP1R21	HP:0002315	Headache	-	OMIM:131300
129285	PPP1R21	HP:0004976	Knee dislocation	6/7	OMIM:615777
129285	PPP1R21	HP:0010804	Tented upper lip vermilion	1/6	OMIM:619383
129285	PPP1R21	HP:0009803	Short phalanx of finger	-	OMIM:615777
129285	PPP1R21	HP:0010761	Broad columella	3/3	OMIM:619383
129285	PPP1R21	HP:0009763	Limb pain	63/92	OMIM:131300
129285	PPP1R21	HP:0009765	Low hanging columella	3/3	OMIM:619383
129285	PPP1R21	HP:0003623	Neonatal onset	-	OMIM:619383
129285	PPP1R21	HP:0003621	Juvenile onset	-	OMIM:131300
129285	PPP1R21	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
129285	PPP1R21	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
129285	PPP1R21	HP:6001056	Out-toeing	-	OMIM:131300
129285	PPP1R21	HP:0000651	Diplopia	-	OMIM:131300
129285	PPP1R21	HP:0000648	Optic atrophy	2/6	OMIM:619383
129285	PPP1R21	HP:0001956	Truncal obesity	2/7	OMIM:615777
129285	PPP1R21	HP:0001903	Anemia	HP:0040283	OMIM:131300
129285	PPP1R21	HP:0010049	Short metacarpal	-	OMIM:615777
129285	PPP1R21	HP:0011344	Severe global developmental delay	5/5	OMIM:619383
129285	PPP1R21	HP:0000678	Dental crowding	-	OMIM:615777
129285	PPP1R21	HP:0000670	Carious teeth	-	OMIM:131300
129285	PPP1R21	HP:0011304	Broad thumb	2/7	OMIM:615777
129285	PPP1R21	HP:0000668	Hypodontia	-	OMIM:615777
129285	PPP1R21	HP:0000664	Synophrys	-	OMIM:615777
129285	PPP1R21	HP:0004396	Poor appetite	-	OMIM:131300
129285	PPP1R21	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
129285	PPP1R21	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
129285	PPP1R21	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
129285	PPP1R21	HP:0003026	Short long bone	7/7	OMIM:615777
129285	PPP1R21	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
129285	PPP1R21	HP:0000767	Pectus excavatum	2/7	OMIM:615777
129285	PPP1R21	HP:0000768	Pectus carinatum	1/7	OMIM:615777
129285	PPP1R21	HP:0000768	Pectus carinatum	2/6	OMIM:619383
129285	PPP1R21	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
129285	PPP1R21	HP:0000750	Delayed speech and language development	-	OMIM:615777
129285	PPP1R21	HP:0011461	Fetal onset	7/7	OMIM:615777
129285	PPP1R21	HP:0000774	Narrow chest	2/7	OMIM:615777
129285	PPP1R21	HP:0003196	Short nose	3/3	OMIM:619383
129285	PPP1R21	HP:0000926	Platyspondyly	1/7	OMIM:615777
129285	PPP1R21	HP:0003180	Flat acetabular roof	-	OMIM:615777
129285	PPP1R21	HP:0004482	Relative macrocephaly	-	OMIM:615777
129285	PPP1R21	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
129285	PPP1R21	HP:0000823	Delayed puberty	-	OMIM:131300
129285	PPP1R21	HP:0000894	Short clavicles	-	OMIM:615777
129285	PPP1R21	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
129285	PPP1R21	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
129285	PPP1R21	HP:0000286	Epicanthus	1/3	OMIM:619383
129285	PPP1R21	HP:0000286	Epicanthus	1/7	OMIM:615777
129285	PPP1R21	HP:0000280	Coarse facial features	2/7	OMIM:615777
129285	PPP1R21	HP:0000280	Coarse facial features	7/9	OMIM:619383
129285	PPP1R21	HP:0000270	Delayed cranial suture closure	1/6	OMIM:619383
129285	PPP1R21	HP:0002827	Hip dislocation	3/7	OMIM:615777
129285	PPP1R21	HP:0001583	Rotary nystagmus	2/3	OMIM:619383
129285	PPP1R21	HP:0000252	Microcephaly	-	OMIM:615777
129285	PPP1R21	HP:0000218	High palate	5/9	OMIM:619383
129285	PPP1R21	HP:0002857	Genu valgum	-	OMIM:131300
129285	PPP1R21	HP:0001533	Slender build	-	OMIM:131300
129285	PPP1R21	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
129285	PPP1R21	HP:0007807	Optic nerve compression	-	OMIM:131300
129285	PPP1R21	HP:0012368	Flat face	7/7	OMIM:615777
129285	PPP1R21	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
129285	PPP1R21	HP:0001612	Weak cry	2/6	OMIM:619383
129285	PPP1R21	HP:0000365	Hearing impairment	10/67	OMIM:131300
129285	PPP1R21	HP:0000369	Low-set ears	6/9	OMIM:619383
129285	PPP1R21	HP:0000341	Narrow forehead	2/6	OMIM:619383
129285	PPP1R21	HP:0000343	Long philtrum	2/6	OMIM:619383
129285	PPP1R21	HP:0000343	Long philtrum	1/7	OMIM:615777
129285	PPP1R21	HP:0011001	Increased bone mineral density	-	OMIM:131300
129285	PPP1R21	HP:0000348	High forehead	4/6	OMIM:619383
129285	PPP1R21	HP:0032794	Myoclonic seizure	1/6	OMIM:619383
129285	PPP1R21	HP:0000316	Hypertelorism	3/9	OMIM:619383
129285	PPP1R21	HP:0000311	Round face	2/7	OMIM:615777
129285	PPP1R21	HP:0000331	Short chin	1/6	OMIM:619383
129285	PPP1R21	HP:0002970	Genu varum	-	OMIM:615777
129285	PPP1R21	HP:0001639	Hypertrophic cardiomyopathy	1/6	OMIM:619383
129285	PPP1R21	HP:0001631	Atrial septal defect	2/6	OMIM:619383
129285	PPP1R21	HP:0000303	Mandibular prognathia	-	OMIM:131300
129285	PPP1R21	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
129285	PPP1R21	HP:0012471	Thick vermilion border	1/3	OMIM:619383
129285	PPP1R21	HP:0000463	Anteverted nares	3/3	OMIM:619383
129285	PPP1R21	HP:0012450	Chronic constipation	2/6	OMIM:619383
129285	PPP1R21	HP:0000470	Short neck	1/7	OMIM:615777
129285	PPP1R21	HP:0001769	Broad foot	HP:0040283	OMIM:615777
129285	PPP1R21	HP:0001763	Pes planus	1/7	OMIM:615777
129285	PPP1R21	HP:0000446	Narrow nasal bridge	2/6	OMIM:619383
129285	PPP1R21	HP:0000431	Wide nasal bridge	2/3	OMIM:619383
129285	PPP1R21	HP:0005469	Flat occiput	2/3	OMIM:619383
129285	PPP1R21	HP:0001845	Overlapping toe	1/6	OMIM:619383
129285	PPP1R21	HP:0001840	Metatarsus adductus	-	OMIM:615777
129285	PPP1R21	HP:0000520	Proptosis	2/4	OMIM:131300
129285	PPP1R21	HP:0000520	Proptosis	7/7	OMIM:615777
129285	PPP1R21	HP:0000506	Telecanthus	2/6	OMIM:619383
129285	PPP1R21	HP:0000582	Upslanted palpebral fissure	1/3	OMIM:619383
129285	PPP1R21	HP:0000592	Blue sclerae	2/7	OMIM:615777
129285	PPP1R21	HP:0000592	Blue sclerae	2/6	OMIM:619383
129285	PPP1R21	HP:0000574	Thick eyebrow	2/3	OMIM:619383
129285	PPP1R21	HP:0000565	Esotropia	4/6	OMIM:619383
129285	PPP1R21	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
129285	PPP1R21	HP:0012514	Lower limb pain	4/4	OMIM:131300
129285	PPP1R21	HP:0012510	Extra-axial cerebrospinal fluid accumulation	2/5	OMIM:619383
129285	PPP1R21	HP:0000545	Myopia	1/3	OMIM:619383
129563	DIS3L2	HP:0008643	Nephroblastomatosis	-	OMIM:267000
129563	DIS3L2	HP:0001274	Agenesis of corpus callosum	-	OMIM:267000
129563	DIS3L2	HP:0001250	Seizure	HP:0040283	ORPHA:2849
129563	DIS3L2	HP:0002580	Volvulus	-	OMIM:267000
129563	DIS3L2	HP:0001252	Hypotonia	HP:0040281	ORPHA:2849
129563	DIS3L2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2849
129563	DIS3L2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2849
129563	DIS3L2	HP:0001263	Global developmental delay	5/5	OMIM:267000
129563	DIS3L2	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:2849
129563	DIS3L2	HP:0100880	Nephrogenic rest	-	OMIM:267000
129563	DIS3L2	HP:0008696	Renal hamartoma	-	OMIM:267000
129563	DIS3L2	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0000098	Tall stature	HP:0040281	ORPHA:2849
129563	DIS3L2	HP:0000047	Hypospadias	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2849
129563	DIS3L2	HP:0033834	Malaise	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:2849
129563	DIS3L2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0000028	Cryptorchidism	-	OMIM:267000
129563	DIS3L2	HP:0012090	Abnormal pancreas morphology	HP:0040282	ORPHA:2849
129563	DIS3L2	HP:0002664	Neoplasm	HP:0040281	ORPHA:654
129563	DIS3L2	HP:0001328	Specific learning disability	HP:0040281	ORPHA:2849
129563	DIS3L2	HP:0000007	Autosomal recessive inheritance	-	OMIM:267000
129563	DIS3L2	HP:0002667	Nephroblastoma	4/8	OMIM:267000
129563	DIS3L2	HP:0002667	Nephroblastoma	HP:0040282	ORPHA:2849
129563	DIS3L2	HP:0002667	Nephroblastoma	HP:0040281	ORPHA:654
129563	DIS3L2	HP:0031105	Abnormal uterus morphology	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0000187	Broad alveolar ridges	HP:0040282	ORPHA:2849
129563	DIS3L2	HP:0000194	Open mouth	HP:0040281	ORPHA:2849
129563	DIS3L2	HP:0000194	Open mouth	-	OMIM:267000
129563	DIS3L2	HP:0000177	Abnormal upper lip morphology	HP:0040281	ORPHA:2849
129563	DIS3L2	HP:0002705	High, narrow palate	HP:0040282	ORPHA:2849
129563	DIS3L2	HP:0007598	Bilateral single transverse palmar creases	HP:0040283	ORPHA:2849
129563	DIS3L2	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0002027	Abdominal pain	HP:0040282	ORPHA:654
129563	DIS3L2	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0100541	Femoral hernia	HP:0040283	ORPHA:2849
129563	DIS3L2	HP:0002094	Dyspnea	HP:0040284	ORPHA:654
129563	DIS3L2	HP:0002133	Status epilepticus	HP:0040283	ORPHA:2849
129563	DIS3L2	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2849
129563	DIS3L2	HP:0200116	Distal ileal atresia	-	OMIM:267000
129563	DIS3L2	HP:0008330	Reduced von Willebrand factor activity	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0010804	Tented upper lip vermilion	-	OMIM:267000
129563	DIS3L2	HP:0010803	Everted upper lip vermilion	7/7	OMIM:267000
129563	DIS3L2	HP:0010733	Naevus flammeus of the eyelid	HP:0040283	ORPHA:2849
129563	DIS3L2	HP:0005580	Duplication of renal pelvis	HP:0040282	ORPHA:654
129563	DIS3L2	HP:0001943	Hypoglycemia	2/5	OMIM:267000
129563	DIS3L2	HP:0001945	Fever	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0001903	Anemia	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0001901	Polycythemia	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0011341	Long upper lip	-	OMIM:267000
129563	DIS3L2	HP:0001999	Abnormal facial shape	-	OMIM:267000
129563	DIS3L2	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0000776	Congenital diaphragmatic hernia	-	OMIM:267000
129563	DIS3L2	HP:0003196	Short nose	HP:0040281	ORPHA:2849
129563	DIS3L2	HP:0012871	Varicocele	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:2849
129563	DIS3L2	HP:0000822	Hypertension	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0004510	Pancreatic islet-cell hyperplasia	-	OMIM:267000
129563	DIS3L2	HP:0003271	Visceromegaly	-	OMIM:267000
129563	DIS3L2	HP:0011611	Interrupted aortic arch	-	OMIM:267000
129563	DIS3L2	HP:0000969	Edema	-	OMIM:267000
129563	DIS3L2	HP:0000286	Epicanthus	HP:0040282	ORPHA:2849
129563	DIS3L2	HP:0000278	Retrognathia	HP:0040281	ORPHA:2849
129563	DIS3L2	HP:0000256	Macrocephaly	HP:0040281	ORPHA:2849
129563	DIS3L2	HP:0000268	Dolichocephaly	HP:0040283	ORPHA:2849
129563	DIS3L2	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0001561	Polyhydramnios	4/8	OMIM:267000
129563	DIS3L2	HP:0001528	Hemihypertrophy	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0001541	Ascites	-	OMIM:267000
129563	DIS3L2	HP:0001507	Growth abnormality	-	OMIM:267000
129563	DIS3L2	HP:0001520	Large for gestational age	6/7	OMIM:267000
129563	DIS3L2	HP:0031500	Abdominal mass	HP:0040281	ORPHA:654
129563	DIS3L2	HP:0000391	Thickened helices	HP:0040282	ORPHA:2849
129563	DIS3L2	HP:0005247	Hypoplasia of the abdominal wall musculature	-	OMIM:267000
129563	DIS3L2	HP:0002907	Microscopic hematuria	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2849
129563	DIS3L2	HP:0000369	Low-set ears	HP:0040282	ORPHA:2849
129563	DIS3L2	HP:0000369	Low-set ears	-	OMIM:267000
129563	DIS3L2	HP:0000348	High forehead	HP:0040281	ORPHA:2849
129563	DIS3L2	HP:0000347	Micrognathia	HP:0040281	ORPHA:2849
129563	DIS3L2	HP:0000347	Micrognathia	-	OMIM:267000
129563	DIS3L2	HP:0000319	Smooth philtrum	HP:0040281	ORPHA:2849
129563	DIS3L2	HP:0000311	Round face	HP:0040281	ORPHA:2849
129563	DIS3L2	HP:0001626	Abnormality of the cardiovascular system	-	OMIM:267000
129563	DIS3L2	HP:0005306	Capillary hemangioma	HP:0040283	ORPHA:2849
129563	DIS3L2	HP:0005280	Depressed nasal bridge	-	OMIM:267000
129563	DIS3L2	HP:0000490	Deeply set eye	HP:0040281	ORPHA:2849
129563	DIS3L2	HP:0000463	Anteverted nares	HP:0040282	ORPHA:2849
129563	DIS3L2	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:2849
129563	DIS3L2	HP:0000431	Wide nasal bridge	7/7	OMIM:267000
129563	DIS3L2	HP:0000526	Aniridia	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0001824	Weight loss	HP:0040283	ORPHA:654
129563	DIS3L2	HP:0000508	Ptosis	HP:0040283	ORPHA:2849
129563	DIS3L2	HP:0012587	Macroscopic hematuria	HP:0040282	ORPHA:654
129607	CMPK2	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:1980
129607	CMPK2	HP:0007229	Intracerebral periventricular calcifications	2/3	OMIM:621018
129607	CMPK2	HP:0002401	Stroke-like episode	0/3	OMIM:621018
129607	CMPK2	HP:0001250	Seizure	0/3	OMIM:621018
129607	CMPK2	HP:0001250	Seizure	HP:0040282	ORPHA:1980
129607	CMPK2	HP:0001251	Ataxia	2/3	OMIM:621018
129607	CMPK2	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:1980
129607	CMPK2	HP:0001260	Dysarthria	2/3	OMIM:621018
129607	CMPK2	HP:0007352	Cerebellar calcifications	HP:0040283	ORPHA:1980
129607	CMPK2	HP:0007352	Cerebellar calcifications	3/3	OMIM:621018
129607	CMPK2	HP:0001350	Slurred speech	HP:0040283	ORPHA:1980
129607	CMPK2	HP:0001332	Dystonia	HP:0040283	ORPHA:1980
129607	CMPK2	HP:0000012	Urinary urgency	HP:0040283	ORPHA:1980
129607	CMPK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:621018
129607	CMPK2	HP:0001337	Tremor	HP:0040282	ORPHA:1980
129607	CMPK2	HP:0002015	Dysphagia	HP:0040283	ORPHA:1980
129607	CMPK2	HP:0100529	Abnormal blood phosphate concentration	0/3	OMIM:621018
129607	CMPK2	HP:0100543	Cognitive impairment	2/3	OMIM:621018
129607	CMPK2	HP:0002067	Bradykinesia	HP:0040282	ORPHA:1980
129607	CMPK2	HP:0003394	Muscle spasm	HP:0040283	ORPHA:1980
129607	CMPK2	HP:0002063	Rigidity	HP:0040282	ORPHA:1980
129607	CMPK2	HP:0003388	Easy fatigability	HP:0040283	ORPHA:1980
129607	CMPK2	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:1980
129607	CMPK2	HP:0003493	Antinuclear antibody positivity	1/3	OMIM:621018
129607	CMPK2	HP:0003596	Middle age onset	2/3	OMIM:621018
129607	CMPK2	HP:0002344	Progressive neurologic deterioration	HP:0040282	ORPHA:1980
129607	CMPK2	HP:0002354	Memory impairment	HP:0040283	ORPHA:1980
129607	CMPK2	HP:0002321	Vertigo	HP:0040282	ORPHA:1980
129607	CMPK2	HP:0002317	Unsteady gait	HP:0040283	ORPHA:1980
129607	CMPK2	HP:0002315	Headache	HP:0040282	ORPHA:1980
129607	CMPK2	HP:0002315	Headache	0/3	OMIM:621018
129607	CMPK2	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1980
129607	CMPK2	HP:0025041	Thalamic calcification	3/3	OMIM:621018
129607	CMPK2	HP:0007146	Bilateral basal ganglia lesions	HP:0040282	ORPHA:1980
129607	CMPK2	HP:0032180	Abnormal circulating metabolite concentration	-	ORPHA:1980
129607	CMPK2	HP:0002312	Clumsiness	HP:0040283	ORPHA:1980
129607	CMPK2	HP:0004305	Involuntary movements	HP:0040283	ORPHA:1980
129607	CMPK2	HP:0031987	Diminished ability to concentrate	HP:0040283	ORPHA:1980
129607	CMPK2	HP:0000802	Impotence	HP:0040283	ORPHA:1980
129607	CMPK2	HP:0004363	Abnormal circulating calcium concentration	0/3	OMIM:621018
129607	CMPK2	HP:0000751	Personality changes	HP:0040282	ORPHA:1980
129607	CMPK2	HP:0000739	Anxiety	HP:0040282	ORPHA:1980
129607	CMPK2	HP:0000726	Dementia	HP:0040282	ORPHA:1980
129607	CMPK2	HP:0000709	Psychosis	HP:0040282	ORPHA:1980
129607	CMPK2	HP:0011462	Young adult onset	1/3	OMIM:621018
129607	CMPK2	HP:0011450	Unusual CNS infection	-	ORPHA:1980
129607	CMPK2	HP:0003165	Elevated circulating parathyroid hormone level	0/2	OMIM:621018
129607	CMPK2	HP:0000822	Hypertension	HP:0040283	ORPHA:1980
129607	CMPK2	HP:0000298	Mask-like facies	HP:0040282	ORPHA:1980
129607	CMPK2	HP:0012229	CSF pleocytosis	1/1	OMIM:621018
129607	CMPK2	HP:0031627	Globus pallidus calcification	3/3	OMIM:621018
129685	TAF8	HP:0001249	Intellectual disability	1/1	OMIM:619972
129685	TAF8	HP:0001263	Global developmental delay	1/1	OMIM:619972
129685	TAF8	HP:0025336	Delayed ability to sit	1/1	OMIM:619972
129685	TAF8	HP:0000007	Autosomal recessive inheritance	-	OMIM:619972
129685	TAF8	HP:0002191	Progressive spasticity	1/1	OMIM:619972
129685	TAF8	HP:0003593	Infantile onset	1/1	OMIM:619972
129685	TAF8	HP:0200012	Short corpus callosum	1/1	OMIM:619972
129685	TAF8	HP:0010804	Tented upper lip vermilion	1/1	OMIM:619972
129685	TAF8	HP:0011344	Severe global developmental delay	1/1	OMIM:619972
129685	TAF8	HP:0006956	Lateral ventricle dilatation	1/1	OMIM:619972
129685	TAF8	HP:0000750	Delayed speech and language development	1/1	OMIM:619972
129685	TAF8	HP:0040010	Small posterior fossa	1/1	OMIM:619972
129685	TAF8	HP:0000248	Brachycephaly	1/1	OMIM:619972
129685	TAF8	HP:0000343	Long philtrum	1/1	OMIM:619972
129685	TAF8	HP:0032989	Delayed ability to roll over	1/1	OMIM:619972
129685	TAF8	HP:0001762	Talipes equinovarus	1/1	OMIM:619972
129685	TAF8	HP:0000508	Ptosis	1/1	OMIM:619972
129880	BBS5	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
129880	BBS5	HP:0001156	Brachydactyly	12/12	OMIM:615983
129880	BBS5	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
129880	BBS5	HP:0001159	Syndactyly	-	OMIM:615983
129880	BBS5	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
129880	BBS5	HP:0001256	Intellectual disability, mild	3/3	OMIM:615983
129880	BBS5	HP:0001250	Seizure	HP:0040283	ORPHA:110
129880	BBS5	HP:0001251	Ataxia	HP:0040283	ORPHA:110
129880	BBS5	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
129880	BBS5	HP:0001257	Spasticity	HP:0040283	ORPHA:110
129880	BBS5	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
129880	BBS5	HP:0007401	Macular atrophy	1/2	OMIM:615983
129880	BBS5	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
129880	BBS5	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
129880	BBS5	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
129880	BBS5	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
129880	BBS5	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
129880	BBS5	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
129880	BBS5	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
129880	BBS5	HP:0000054	Micropenis	2/2	OMIM:615983
129880	BBS5	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
129880	BBS5	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
129880	BBS5	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
129880	BBS5	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
129880	BBS5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615983
129880	BBS5	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
129880	BBS5	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
129880	BBS5	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
129880	BBS5	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
129880	BBS5	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
129880	BBS5	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
129880	BBS5	HP:0000135	Hypogonadism	1/1	OMIM:615983
129880	BBS5	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
129880	BBS5	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
129880	BBS5	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
129880	BBS5	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
129880	BBS5	HP:0007663	Reduced visual acuity	9/9	OMIM:615983
129880	BBS5	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
129880	BBS5	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
129880	BBS5	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
129880	BBS5	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
129880	BBS5	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
129880	BBS5	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
129880	BBS5	HP:0002099	Asthma	HP:0040283	ORPHA:110
129880	BBS5	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
129880	BBS5	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
129880	BBS5	HP:0003577	Congenital onset	2/2	OMIM:615983
129880	BBS5	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
129880	BBS5	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
129880	BBS5	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
129880	BBS5	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
129880	BBS5	HP:0003621	Juvenile onset	8/19	OMIM:180100
129880	BBS5	HP:0003621	Juvenile onset	1/1	OMIM:615983
129880	BBS5	HP:0004209	Clinodactyly of the 5th finger	2/2	OMIM:615983
129880	BBS5	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
129880	BBS5	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
129880	BBS5	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
129880	BBS5	HP:0000618	Blindness	HP:0040282	ORPHA:110
129880	BBS5	HP:0000613	Photophobia	HP:0040282	ORPHA:110
129880	BBS5	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
129880	BBS5	HP:0000691	Microdontia	HP:0040283	ORPHA:110
129880	BBS5	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
129880	BBS5	HP:0000662	Nyctalopia	26/28	OMIM:180100
129880	BBS5	HP:0000662	Nyctalopia	4/4	OMIM:615983
129880	BBS5	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
129880	BBS5	HP:0000668	Hypodontia	1/1	OMIM:615983
129880	BBS5	HP:0004322	Short stature	HP:0040282	ORPHA:110
129880	BBS5	HP:0000739	Anxiety	HP:0040283	ORPHA:110
129880	BBS5	HP:0000736	Short attention span	HP:0040282	ORPHA:110
129880	BBS5	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
129880	BBS5	HP:0000750	Delayed speech and language development	1/2	OMIM:615983
129880	BBS5	HP:0000716	Depression	HP:0040282	ORPHA:110
129880	BBS5	HP:0000717	Autism	HP:0040282	ORPHA:110
129880	BBS5	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
129880	BBS5	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
129880	BBS5	HP:0011463	Childhood onset	3/19	OMIM:180100
129880	BBS5	HP:0011462	Young adult onset	8/19	OMIM:180100
129880	BBS5	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
129880	BBS5	HP:0000789	Infertility	HP:0040283	ORPHA:110
129880	BBS5	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
129880	BBS5	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
129880	BBS5	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
129880	BBS5	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
129880	BBS5	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
129880	BBS5	HP:0000822	Hypertension	HP:0040282	ORPHA:110
129880	BBS5	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
129880	BBS5	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
129880	BBS5	HP:0003241	External genital hypoplasia	-	OMIM:615983
129880	BBS5	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
129880	BBS5	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
129880	BBS5	HP:0100259	Postaxial polydactyly	2/4	OMIM:615983
129880	BBS5	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
129880	BBS5	HP:0007787	Posterior subcapsular cataract	1/2	OMIM:615983
129880	BBS5	HP:0007754	Macular dystrophy	1/5	OMIM:615983
129880	BBS5	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
129880	BBS5	HP:0007737	Bone spicule pigmentation of the retina	1/2	OMIM:615983
129880	BBS5	HP:0000218	High palate	HP:0040282	ORPHA:110
129880	BBS5	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
129880	BBS5	HP:0001513	Obesity	HP:0040281	ORPHA:110
129880	BBS5	HP:0001513	Obesity	7/7	OMIM:615983
129880	BBS5	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
129880	BBS5	HP:0007843	Attenuation of retinal blood vessels	2/2	OMIM:615983
129880	BBS5	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
129880	BBS5	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
129880	BBS5	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
129880	BBS5	HP:0000388	Otitis media	HP:0040283	ORPHA:110
129880	BBS5	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
129880	BBS5	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
129880	BBS5	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
129880	BBS5	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
129880	BBS5	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
129880	BBS5	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
129880	BBS5	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
129880	BBS5	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
129880	BBS5	HP:0000400	Macrotia	HP:0040283	ORPHA:110
129880	BBS5	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
129880	BBS5	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
129880	BBS5	HP:0000486	Strabismus	HP:0040283	ORPHA:110
129880	BBS5	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
129880	BBS5	HP:0000470	Short neck	HP:0040283	ORPHA:110
129880	BBS5	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
129880	BBS5	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
129880	BBS5	HP:0000518	Cataract	HP:0040283	ORPHA:110
129880	BBS5	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
129880	BBS5	HP:0000510	Rod-cone dystrophy	5/7	OMIM:615983
129880	BBS5	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
129880	BBS5	HP:0000575	Scotoma	5/18	OMIM:180100
129880	BBS5	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
129880	BBS5	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
129880	BBS5	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
129880	BBS5	HP:0000543	Optic disc pallor	1/1	OMIM:180100
129880	BBS5	HP:0000543	Optic disc pallor	2/2	OMIM:615983
129880	BBS5	HP:0000545	Myopia	-	OMIM:180100
130340	AP1S3	HP:0003765	Psoriasiform dermatitis	-	OMIM:616106
130340	AP1S3	HP:0100806	Sepsis	HP:0040284	ORPHA:247353
130340	AP1S3	HP:0025252	Geographic tongue	HP:0040282	ORPHA:247353
130340	AP1S3	HP:0100825	Cheilitis	HP:0040282	ORPHA:247353
130340	AP1S3	HP:0100847	Palmoplantar pustulosis	HP:0040283	ORPHA:247353
130340	AP1S3	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:247353
130340	AP1S3	HP:0001369	Arthritis	HP:0040282	ORPHA:247353
130340	AP1S3	HP:0000006	Autosomal dominant inheritance	-	OMIM:616106
130340	AP1S3	HP:0025474	Erythematous plaque	HP:0040280	ORPHA:247353
130340	AP1S3	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040280	ORPHA:247353
130340	AP1S3	HP:0008404	Nail dystrophy	-	OMIM:616106
130340	AP1S3	HP:0001019	Erythroderma	HP:0040281	ORPHA:247353
130340	AP1S3	HP:0200039	Pustule	HP:0040280	ORPHA:247353
130340	AP1S3	HP:0010741	Pedal edema	HP:0040283	ORPHA:247353
130340	AP1S3	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:247353
130340	AP1S3	HP:0001945	Fever	HP:0040282	ORPHA:247353
130340	AP1S3	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:247353
130340	AP1S3	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:247353
130340	AP1S3	HP:0002829	Arthralgia	HP:0040280	ORPHA:247353
130340	AP1S3	HP:0025502	Overweight	HP:0040282	ORPHA:247353
130340	AP1S3	HP:0001513	Obesity	HP:0040283	ORPHA:247353
130340	AP1S3	HP:0012378	Fatigue	HP:0040282	ORPHA:247353
130340	AP1S3	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:247353
130340	AP1S3	HP:0002902	Hyponatremia	HP:0040283	ORPHA:247353
130340	AP1S3	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:247353
130340	AP1S3	HP:0001635	Congestive heart failure	HP:0040284	ORPHA:247353
130340	AP1S3	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:247353
130340	AP1S3	HP:0001888	Decreased total lymphocyte count	HP:0040283	ORPHA:247353
130340	AP1S3	HP:0000554	Uveitis	HP:0040284	ORPHA:247353
130340	AP1S3	HP:0012531	Pain	HP:0040281	ORPHA:247353
130557	ZNF513	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
130557	ZNF513	HP:0001141	Severely reduced visual acuity	4/4	OMIM:613617
130557	ZNF513	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
130557	ZNF513	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
130557	ZNF513	HP:0000007	Autosomal recessive inheritance	-	OMIM:613617
130557	ZNF513	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
130557	ZNF513	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
130557	ZNF513	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
130557	ZNF513	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
130557	ZNF513	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
130557	ZNF513	HP:0008323	Abnormal light- and dark-adapted electroretinogram	4/4	OMIM:613617
130557	ZNF513	HP:0003621	Juvenile onset	8/19	OMIM:180100
130557	ZNF513	HP:0003621	Juvenile onset	4/4	OMIM:613617
130557	ZNF513	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
130557	ZNF513	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
130557	ZNF513	HP:0000618	Blindness	HP:0040281	ORPHA:791
130557	ZNF513	HP:0000613	Photophobia	HP:0040281	ORPHA:791
130557	ZNF513	HP:0000608	Macular degeneration	4/4	OMIM:613617
130557	ZNF513	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
130557	ZNF513	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
130557	ZNF513	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
130557	ZNF513	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
130557	ZNF513	HP:0000662	Nyctalopia	4/4	OMIM:613617
130557	ZNF513	HP:0000662	Nyctalopia	26/28	OMIM:180100
130557	ZNF513	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
130557	ZNF513	HP:0011463	Childhood onset	3/19	OMIM:180100
130557	ZNF513	HP:0011462	Young adult onset	8/19	OMIM:180100
130557	ZNF513	HP:0030786	Photopsia	HP:0040283	ORPHA:791
130557	ZNF513	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
130557	ZNF513	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
130557	ZNF513	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
130557	ZNF513	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
130557	ZNF513	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
130557	ZNF513	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
130557	ZNF513	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:613617
130557	ZNF513	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
130557	ZNF513	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
130557	ZNF513	HP:0007843	Attenuation of retinal blood vessels	4/4	OMIM:613617
130557	ZNF513	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
130557	ZNF513	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
130557	ZNF513	HP:0007994	Peripheral visual field loss	4/4	OMIM:613617
130557	ZNF513	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
130557	ZNF513	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
130557	ZNF513	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
130557	ZNF513	HP:0000510	Rod-cone dystrophy	-	OMIM:613617
130557	ZNF513	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
130557	ZNF513	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
130557	ZNF513	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
130557	ZNF513	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
130557	ZNF513	HP:0000575	Scotoma	5/18	OMIM:180100
130557	ZNF513	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
130557	ZNF513	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
130557	ZNF513	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
130557	ZNF513	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
130557	ZNF513	HP:0000543	Optic disc pallor	4/4	OMIM:613617
130557	ZNF513	HP:0000543	Optic disc pallor	1/1	OMIM:180100
130557	ZNF513	HP:0000545	Myopia	-	OMIM:180100
130589	GALM	HP:0100806	Sepsis	HP:0040284	ORPHA:570422
130589	GALM	HP:0001263	Global developmental delay	0/8	OMIM:618881
130589	GALM	HP:0001396	Cholestasis	HP:0040283	ORPHA:570422
130589	GALM	HP:0012024	Hypergalactosemia	HP:0040281	ORPHA:570422
130589	GALM	HP:0012024	Hypergalactosemia	8/8	OMIM:618881
130589	GALM	HP:0000007	Autosomal recessive inheritance	-	OMIM:618881
130589	GALM	HP:0001410	Decreased liver function	HP:0040283	ORPHA:570422
130589	GALM	HP:0002240	Hepatomegaly	0/8	OMIM:618881
130589	GALM	HP:0002240	Hepatomegaly	HP:0040284	ORPHA:570422
130589	GALM	HP:0003623	Neonatal onset	8/8	OMIM:618881
130589	GALM	HP:0004915	Impairment of galactose metabolism	HP:0040281	ORPHA:570422
130589	GALM	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:570422
130589	GALM	HP:0001508	Failure to thrive	HP:0040284	ORPHA:570422
130589	GALM	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:570422
130589	GALM	HP:0006579	Prolonged neonatal jaundice	1/8	OMIM:618881
130589	GALM	HP:0000518	Cataract	2/8	OMIM:618881
130589	GALM	HP:0000518	Cataract	HP:0040282	ORPHA:570422
130951	M1AP	HP:0031038	Spermatogenesis maturation arrest	-	OMIM:619108
130951	M1AP	HP:0000027	Azoospermia	10/10	OMIM:619108
130951	M1AP	HP:0000007	Autosomal recessive inheritance	-	OMIM:619108
130951	M1AP	HP:0003581	Adult onset	-	OMIM:619108
130951	M1AP	HP:0000798	Oligozoospermia	1/1	OMIM:619108
130951	M1AP	HP:0003251	Male infertility	1/1	OMIM:619108
131118	DNAJC19	HP:0002470	Nonprogressive cerebellar ataxia	-	OMIM:610198
131118	DNAJC19	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040284	ORPHA:66634
131118	DNAJC19	HP:0003700	Generalized amyotrophy	HP:0040284	ORPHA:66634
131118	DNAJC19	HP:0001256	Intellectual disability, mild	10/18	OMIM:610198
131118	DNAJC19	HP:0001250	Seizure	HP:0040283	ORPHA:66634
131118	DNAJC19	HP:0001250	Seizure	2/18	OMIM:610198
131118	DNAJC19	HP:0001251	Ataxia	10/18	OMIM:610198
131118	DNAJC19	HP:0001251	Ataxia	HP:0040281	ORPHA:66634
131118	DNAJC19	HP:0008762	Repetitive compulsive behavior	HP:0040284	ORPHA:66634
131118	DNAJC19	HP:0008734	Decreased testicular size	-	OMIM:610198
131118	DNAJC19	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:66634
131118	DNAJC19	HP:0007366	Atrophy/Degeneration affecting the brainstem	HP:0040284	ORPHA:66634
131118	DNAJC19	HP:0008689	Bilateral cryptorchidism	HP:0040283	ORPHA:66634
131118	DNAJC19	HP:0000051	Perineal hypospadias	HP:0040283	ORPHA:66634
131118	DNAJC19	HP:0000047	Hypospadias	4/11	OMIM:610198
131118	DNAJC19	HP:0000028	Cryptorchidism	9/11	OMIM:610198
131118	DNAJC19	HP:0008897	Postnatal growth retardation	18/18	OMIM:610198
131118	DNAJC19	HP:0001332	Dystonia	HP:0040284	ORPHA:66634
131118	DNAJC19	HP:0001324	Muscle weakness	HP:0040284	ORPHA:66634
131118	DNAJC19	HP:0001324	Muscle weakness	-	OMIM:610198
131118	DNAJC19	HP:0000007	Autosomal recessive inheritance	-	OMIM:610198
131118	DNAJC19	HP:0001319	Neonatal hypotonia	HP:0040284	ORPHA:66634
131118	DNAJC19	HP:0001414	Microvesicular hepatic steatosis	-	OMIM:610198
131118	DNAJC19	HP:0001414	Microvesicular hepatic steatosis	HP:0040283	ORPHA:66634
131118	DNAJC19	HP:0003344	3-Methylglutaric aciduria	18/18	OMIM:610198
131118	DNAJC19	HP:0002061	Lower limb spasticity	HP:0040284	ORPHA:66634
131118	DNAJC19	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:66634
131118	DNAJC19	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:66634
131118	DNAJC19	HP:0100702	Arachnoid cyst	HP:0040284	ORPHA:66634
131118	DNAJC19	HP:0003530	Elevated circulating glutaric acid concentration	HP:0040281	ORPHA:66634
131118	DNAJC19	HP:0004856	Normochromic microcytic anemia	12/18	OMIM:610198
131118	DNAJC19	HP:0004856	Normochromic microcytic anemia	HP:0040282	ORPHA:66634
131118	DNAJC19	HP:0003535	3-Methylglutaconic aciduria	HP:0040281	ORPHA:66634
131118	DNAJC19	HP:0003535	3-Methylglutaconic aciduria	18/18	OMIM:610198
131118	DNAJC19	HP:0004840	Hypochromic microcytic anemia	HP:0040282	ORPHA:66634
131118	DNAJC19	HP:0002376	Developmental regression	HP:0040284	ORPHA:66634
131118	DNAJC19	HP:0002345	Action tremor	HP:0040284	ORPHA:66634
131118	DNAJC19	HP:0100660	Dyskinesia	HP:0040284	ORPHA:66634
131118	DNAJC19	HP:0007146	Bilateral basal ganglia lesions	HP:0040284	ORPHA:66634
131118	DNAJC19	HP:0000648	Optic atrophy	HP:0040283	ORPHA:66634
131118	DNAJC19	HP:0000648	Optic atrophy	4/18	OMIM:610198
131118	DNAJC19	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:66634
131118	DNAJC19	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:66634
131118	DNAJC19	HP:0031956	Elevated circulating aspartate aminotransferase concentration	8/18	OMIM:610198
131118	DNAJC19	HP:0031964	Elevated circulating alanine aminotransferase concentration	8/18	OMIM:610198
131118	DNAJC19	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:66634
131118	DNAJC19	HP:0009110	Diaphragmatic eventration	2/18	OMIM:610198
131118	DNAJC19	HP:0009110	Diaphragmatic eventration	HP:0040284	ORPHA:66634
131118	DNAJC19	HP:0012817	Noncompaction cardiomyopathy	-	OMIM:610198
131118	DNAJC19	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:66634
131118	DNAJC19	HP:0011623	Muscular ventricular septal defect	HP:0040283	ORPHA:66634
131118	DNAJC19	HP:0001508	Failure to thrive	18/18	OMIM:610198
131118	DNAJC19	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:66634
131118	DNAJC19	HP:0001511	Intrauterine growth retardation	8/18	OMIM:610198
131118	DNAJC19	HP:0001510	Growth delay	HP:0040281	ORPHA:66634
131118	DNAJC19	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:66634
131118	DNAJC19	HP:0001645	Sudden cardiac death	-	OMIM:610198
131118	DNAJC19	HP:0001644	Dilated cardiomyopathy	12/18	OMIM:610198
131118	DNAJC19	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:66634
131118	DNAJC19	HP:0001657	Prolonged QT interval	6/18	OMIM:610198
131118	DNAJC19	HP:0001657	Prolonged QT interval	HP:0040282	ORPHA:66634
131118	DNAJC19	HP:0001635	Congestive heart failure	-	OMIM:610198
131118	DNAJC19	HP:0001631	Atrial septal defect	1/18	OMIM:610198
131377	KLHL40	HP:0001181	Adducted thumb	HP:0040283	ORPHA:171430
131377	KLHL40	HP:0003798	Nemaline bodies	HP:0040282	ORPHA:171430
131377	KLHL40	HP:0003798	Nemaline bodies	-	OMIM:615348
131377	KLHL40	HP:0003715	Myofibrillar myopathy	-	OMIM:615348
131377	KLHL40	HP:0001270	Motor delay	HP:0040282	ORPHA:171430
131377	KLHL40	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171430
131377	KLHL40	HP:0001371	Flexion contracture	HP:0040282	ORPHA:171430
131377	KLHL40	HP:0001371	Flexion contracture	24/27	OMIM:615348
131377	KLHL40	HP:0000054	Micropenis	HP:0040283	ORPHA:171430
131377	KLHL40	HP:0000047	Hypospadias	HP:0040283	ORPHA:171430
131377	KLHL40	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171430
131377	KLHL40	HP:0007514	Edema of the dorsum of hands	HP:0040283	ORPHA:171430
131377	KLHL40	HP:0001324	Muscle weakness	29/29	OMIM:615348
131377	KLHL40	HP:0000007	Autosomal recessive inheritance	-	OMIM:615348
131377	KLHL40	HP:0003327	Axial muscle weakness	HP:0040282	ORPHA:171430
131377	KLHL40	HP:0002015	Dysphagia	HP:0040282	ORPHA:171430
131377	KLHL40	HP:0002015	Dysphagia	23/24	OMIM:615348
131377	KLHL40	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:171430
131377	KLHL40	HP:0010628	Facial palsy	HP:0040282	ORPHA:171430
131377	KLHL40	HP:0010628	Facial palsy	23/23	OMIM:615348
131377	KLHL40	HP:0002375	Hypokinesia	HP:0040282	ORPHA:171430
131377	KLHL40	HP:0006829	Severe muscular hypotonia	HP:0040282	ORPHA:171430
131377	KLHL40	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:171430
131377	KLHL40	HP:0009025	Increased connective tissue	HP:0040282	ORPHA:171430
131377	KLHL40	HP:0001989	Fetal akinesia sequence	-	OMIM:615348
131377	KLHL40	HP:0000765	Abnormal thorax morphology	HP:0040282	ORPHA:171430
131377	KLHL40	HP:0011471	Gastrostomy tube feeding in infancy	13/24	OMIM:615348
131377	KLHL40	HP:0000775	Abnormality of the diaphragm	HP:0040283	ORPHA:171430
131377	KLHL40	HP:0000883	Thin ribs	HP:0040283	ORPHA:171430
131377	KLHL40	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:171430
131377	KLHL40	HP:0005855	Multiple prenatal fractures	HP:0040282	ORPHA:171430
131377	KLHL40	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283	ORPHA:171430
131377	KLHL40	HP:0000239	Large fontanelles	HP:0040283	ORPHA:171430
131377	KLHL40	HP:0002878	Respiratory failure	HP:0040282	ORPHA:171430
131377	KLHL40	HP:0002878	Respiratory failure	28/29	OMIM:615348
131377	KLHL40	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:171430
131377	KLHL40	HP:0001561	Polyhydramnios	14/29	OMIM:615348
131377	KLHL40	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:171430
131377	KLHL40	HP:0001558	Decreased fetal movement	-	OMIM:615348
131377	KLHL40	HP:0001522	Death in infancy	-	OMIM:615348
131377	KLHL40	HP:0000369	Low-set ears	HP:0040283	ORPHA:171430
131377	KLHL40	HP:0001623	Breech presentation	HP:0040282	ORPHA:171430
131377	KLHL40	HP:0001622	Premature birth	HP:0040283	ORPHA:171430
131377	KLHL40	HP:0000597	Ophthalmoparesis	4/23	OMIM:615348
131405	TRIM71	HP:0001250	Seizure	3/3	OMIM:618667
131405	TRIM71	HP:0001334	Communicating hydrocephalus	3/3	OMIM:618667
131405	TRIM71	HP:0000006	Autosomal dominant inheritance	-	OMIM:618667
131405	TRIM71	HP:0002119	Ventriculomegaly	3/3	OMIM:618667
131405	TRIM71	HP:0012758	Neurodevelopmental delay	3/3	OMIM:618667
131669	UROC1	HP:0010904	Abnormal circulating histidine concentration	HP:0040281	ORPHA:210128
131669	UROC1	HP:0001251	Ataxia	1/1	OMIM:276880
131669	UROC1	HP:0001251	Ataxia	HP:0040281	ORPHA:210128
131669	UROC1	HP:0001260	Dysarthria	HP:0040281	ORPHA:210128
131669	UROC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:276880
131669	UROC1	HP:0001310	Dysmetria	1/1	OMIM:276880
131669	UROC1	HP:0002719	Recurrent infections	HP:0040281	ORPHA:210128
131669	UROC1	HP:0002066	Gait ataxia	1/1	OMIM:276880
131669	UROC1	HP:0002066	Gait ataxia	HP:0040281	ORPHA:210128
131669	UROC1	HP:0002078	Truncal ataxia	1/1	OMIM:276880
131669	UROC1	HP:0002078	Truncal ataxia	HP:0040281	ORPHA:210128
131669	UROC1	HP:0002136	Broad-based gait	1/1	OMIM:276880
131669	UROC1	HP:0002136	Broad-based gait	HP:0040281	ORPHA:210128
131669	UROC1	HP:0002345	Action tremor	1/1	OMIM:276880
131669	UROC1	HP:0002345	Action tremor	HP:0040281	ORPHA:210128
131669	UROC1	HP:0002342	Intellectual disability, moderate	1/1	OMIM:276880
131669	UROC1	HP:0006801	Hyperactive deep tendon reflexes	HP:0040281	ORPHA:210128
131669	UROC1	HP:0000639	Nystagmus	1/1	OMIM:276880
131669	UROC1	HP:0004322	Short stature	-	OMIM:276880
131669	UROC1	HP:0000718	Aggressive behavior	-	OMIM:276880
131669	UROC1	HP:0011463	Childhood onset	1/1	OMIM:276880
131669	UROC1	HP:0012237	Urocanic aciduria	1/1	OMIM:276880
131669	UROC1	HP:0012237	Urocanic aciduria	HP:0040281	ORPHA:210128
131669	UROC1	HP:0007979	Gaze-evoked horizontal nystagmus	HP:0040281	ORPHA:210128
132001	TAMM41	HP:0003701	Proximal muscle weakness	2/2	OMIM:620139
132001	TAMM41	HP:0001284	Areflexia	2/2	OMIM:620139
132001	TAMM41	HP:0001254	Lethargy	3/3	OMIM:620139
132001	TAMM41	HP:0001252	Hypotonia	3/3	OMIM:620139
132001	TAMM41	HP:0001263	Global developmental delay	3/3	OMIM:620139
132001	TAMM41	HP:0003803	Type 1 muscle fiber predominance	1/2	OMIM:620139
132001	TAMM41	HP:0000007	Autosomal recessive inheritance	-	OMIM:620139
132001	TAMM41	HP:0012120	Methylmalonic aciduria	1/2	OMIM:620139
132001	TAMM41	HP:0002015	Dysphagia	2/3	OMIM:620139
132001	TAMM41	HP:0011924	Decreased activity of mitochondrial complex III	1/2	OMIM:620139
132001	TAMM41	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:620139
132001	TAMM41	HP:0002194	Delayed gross motor development	1/1	OMIM:620139
132001	TAMM41	HP:0003577	Congenital onset	3/3	OMIM:620139
132001	TAMM41	HP:0003557	Increased variability in muscle fiber diameter	1/2	OMIM:620139
132001	TAMM41	HP:0008347	Decreased activity of mitochondrial complex IV	2/2	OMIM:620139
132001	TAMM41	HP:0003648	Lacticaciduria	1/2	OMIM:620139
132001	TAMM41	HP:0003236	Elevated circulating creatine kinase concentration	2/2	OMIM:620139
132001	TAMM41	HP:0002878	Respiratory failure	1/3	OMIM:620139
132001	TAMM41	HP:0001508	Failure to thrive	1/3	OMIM:620139
132001	TAMM41	HP:0002919	Ketonuria	1/2	OMIM:620139
132001	TAMM41	HP:0000508	Ptosis	3/3	OMIM:620139
132001	TAMM41	HP:0000590	Progressive external ophthalmoplegia	1/2	OMIM:620139
132158	GLYCTK	HP:0002448	Progressive encephalopathy	HP:0040281	ORPHA:941
132158	GLYCTK	HP:0001298	Encephalopathy	11/11	OMIM:220120
132158	GLYCTK	HP:0001250	Seizure	HP:0040282	ORPHA:941
132158	GLYCTK	HP:0001250	Seizure	1/1	OMIM:220120
132158	GLYCTK	HP:0001252	Hypotonia	3/3	OMIM:220120
132158	GLYCTK	HP:0001249	Intellectual disability	HP:0040282	ORPHA:941
132158	GLYCTK	HP:0001249	Intellectual disability	-	OMIM:220120
132158	GLYCTK	HP:0001263	Global developmental delay	HP:0040282	ORPHA:941
132158	GLYCTK	HP:0001263	Global developmental delay	4/4	OMIM:220120
132158	GLYCTK	HP:0001257	Spasticity	HP:0040282	ORPHA:941
132158	GLYCTK	HP:0001257	Spasticity	1/3	OMIM:220120
132158	GLYCTK	HP:0002521	Hypsarrhythmia	-	OMIM:220120
132158	GLYCTK	HP:0002510	Spastic tetraplegia	1/1	OMIM:220120
132158	GLYCTK	HP:0500230	Increased CSF glycine concentration	HP:0040282	ORPHA:941
132158	GLYCTK	HP:0000054	Micropenis	1/3	OMIM:220120
132158	GLYCTK	HP:0001348	Brisk reflexes	1/3	OMIM:220120
132158	GLYCTK	HP:0001347	Hyperreflexia	-	OMIM:220120
132158	GLYCTK	HP:0000007	Autosomal recessive inheritance	-	OMIM:220120
132158	GLYCTK	HP:0001336	Myoclonus	HP:0040283	ORPHA:941
132158	GLYCTK	HP:0001336	Myoclonus	-	OMIM:220120
132158	GLYCTK	HP:0001319	Neonatal hypotonia	-	OMIM:220120
132158	GLYCTK	HP:0002643	Neonatal respiratory distress	1/3	OMIM:220120
132158	GLYCTK	HP:0008947	Floppy infant	HP:0040282	ORPHA:941
132158	GLYCTK	HP:0008936	Axial hypotonia	1/1	OMIM:220120
132158	GLYCTK	HP:0003355	Aminoaciduria	-	OMIM:220120
132158	GLYCTK	HP:0002020	Gastroesophageal reflux	2/3	OMIM:220120
132158	GLYCTK	HP:0002069	Bilateral tonic-clonic seizure	1/3	OMIM:220120
132158	GLYCTK	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:941
132158	GLYCTK	HP:0002072	Chorea	HP:0040283	ORPHA:941
132158	GLYCTK	HP:0002154	Hyperglycinemia	HP:0040282	ORPHA:941
132158	GLYCTK	HP:0002120	Cerebral cortical atrophy	1/3	OMIM:220120
132158	GLYCTK	HP:0002133	Status epilepticus	1/3	OMIM:220120
132158	GLYCTK	HP:0002188	Delayed CNS myelination	1/3	OMIM:220120
132158	GLYCTK	HP:0002179	Opisthotonus	1/1	OMIM:220120
132158	GLYCTK	HP:0008288	Nonketotic hyperglycinemia	HP:0040283	ORPHA:941
132158	GLYCTK	HP:0008288	Nonketotic hyperglycinemia	-	OMIM:220120
132158	GLYCTK	HP:0002266	Focal clonic seizure	1/3	OMIM:220120
132158	GLYCTK	HP:0003593	Infantile onset	1/1	OMIM:220120
132158	GLYCTK	HP:0100703	Tongue thrusting	1/3	OMIM:220120
132158	GLYCTK	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:941
132158	GLYCTK	HP:6000371	Elevated circulating D-glyceric acid concentration	1/1	OMIM:220120
132158	GLYCTK	HP:6000372	Elevated CSF D-glyceric acid concentration	1/1	OMIM:220120
132158	GLYCTK	HP:0003623	Neonatal onset	3/3	OMIM:220120
132158	GLYCTK	HP:0034706	Reduced hepatic D-glycerate kinase activity	1/1	OMIM:220120
132158	GLYCTK	HP:0007185	Loss of consciousness	HP:0040283	ORPHA:941
132158	GLYCTK	HP:0001943	Hypoglycemia	1/3	OMIM:220120
132158	GLYCTK	HP:0001942	Metabolic acidosis	HP:0040281	ORPHA:941
132158	GLYCTK	HP:0001942	Metabolic acidosis	-	OMIM:220120
132158	GLYCTK	HP:0000609	Optic nerve hypoplasia	1/3	OMIM:220120
132158	GLYCTK	HP:0011344	Severe global developmental delay	HP:0040283	ORPHA:941
132158	GLYCTK	HP:0012736	Profound global developmental delay	HP:0040283	ORPHA:941
132158	GLYCTK	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:941
132158	GLYCTK	HP:0000729	Autistic behavior	HP:0040283	ORPHA:941
132158	GLYCTK	HP:0003108	Hyperglycinuria	HP:0040282	ORPHA:941
132158	GLYCTK	HP:0030781	Increased circulating free fatty acid level	HP:0040282	ORPHA:941
132158	GLYCTK	HP:0000954	Single transverse palmar crease	1/3	OMIM:220120
132158	GLYCTK	HP:0034353	Appendicular spasticity	1/1	OMIM:220120
132158	GLYCTK	HP:0000253	Progressive microcephaly	HP:0040283	ORPHA:941
132158	GLYCTK	HP:0000252	Microcephaly	HP:0040282	ORPHA:941
132158	GLYCTK	HP:0000252	Microcephaly	2/4	OMIM:220120
132158	GLYCTK	HP:0001508	Failure to thrive	3/3	OMIM:220120
132158	GLYCTK	HP:0001510	Growth delay	11/11	OMIM:220120
132158	GLYCTK	HP:0012379	Abnormal circulating enzyme concentration or activity	HP:0040281	ORPHA:941
132158	GLYCTK	HP:0000365	Hearing impairment	HP:0040283	ORPHA:941
132158	GLYCTK	HP:0001643	Patent ductus arteriosus	1/3	OMIM:220120
132158	GLYCTK	HP:0001662	Bradycardia	1/3	OMIM:220120
132158	GLYCTK	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:220120
132158	GLYCTK	HP:0000490	Deeply set eye	1/3	OMIM:220120
132158	GLYCTK	HP:0012444	Brain atrophy	HP:0040283	ORPHA:941
132320	SCLT1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
132320	SCLT1	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
132320	SCLT1	HP:0001250	Seizure	HP:0040283	ORPHA:110
132320	SCLT1	HP:0001251	Ataxia	HP:0040283	ORPHA:110
132320	SCLT1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
132320	SCLT1	HP:0001257	Spasticity	HP:0040283	ORPHA:110
132320	SCLT1	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
132320	SCLT1	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
132320	SCLT1	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
132320	SCLT1	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
132320	SCLT1	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
132320	SCLT1	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
132320	SCLT1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
132320	SCLT1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
132320	SCLT1	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
132320	SCLT1	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
132320	SCLT1	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
132320	SCLT1	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
132320	SCLT1	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
132320	SCLT1	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
132320	SCLT1	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
132320	SCLT1	HP:0002099	Asthma	HP:0040283	ORPHA:110
132320	SCLT1	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
132320	SCLT1	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
132320	SCLT1	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
132320	SCLT1	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
132320	SCLT1	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
132320	SCLT1	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
132320	SCLT1	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
132320	SCLT1	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000618	Blindness	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000613	Photophobia	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000691	Microdontia	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
132320	SCLT1	HP:0004322	Short stature	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000739	Anxiety	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000736	Short attention span	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000716	Depression	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000717	Autism	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
132320	SCLT1	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
132320	SCLT1	HP:0000789	Infertility	HP:0040283	ORPHA:110
132320	SCLT1	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
132320	SCLT1	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000822	Hypertension	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
132320	SCLT1	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
132320	SCLT1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
132320	SCLT1	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000218	High palate	HP:0040282	ORPHA:110
132320	SCLT1	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
132320	SCLT1	HP:0001513	Obesity	HP:0040281	ORPHA:110
132320	SCLT1	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
132320	SCLT1	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
132320	SCLT1	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000388	Otitis media	HP:0040283	ORPHA:110
132320	SCLT1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
132320	SCLT1	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
132320	SCLT1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
132320	SCLT1	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
132320	SCLT1	HP:0000400	Macrotia	HP:0040283	ORPHA:110
132320	SCLT1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000486	Strabismus	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000470	Short neck	HP:0040283	ORPHA:110
132320	SCLT1	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000518	Cataract	HP:0040283	ORPHA:110
132320	SCLT1	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
132320	SCLT1	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
132320	SCLT1	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
132884	EVC2	HP:0002488	Acute leukemia	HP:0040283	ORPHA:289
132884	EVC2	HP:0001156	Brachydactyly	-	OMIM:193530
132884	EVC2	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:952
132884	EVC2	HP:0001162	Postaxial hand polydactyly	-	OMIM:193530
132884	EVC2	HP:0001162	Postaxial hand polydactyly	-	OMIM:225500
132884	EVC2	HP:0001161	Hand polydactyly	HP:0040281	ORPHA:289
132884	EVC2	HP:0009882	Short distal phalanx of finger	HP:0040281	ORPHA:289
132884	EVC2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
132884	EVC2	HP:0001293	Cranial nerve compression	-	OMIM:131300
132884	EVC2	HP:0001252	Hypotonia	2/7	OMIM:615777
132884	EVC2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:289
132884	EVC2	HP:0001249	Intellectual disability	HP:0040283	OMIM:225500
132884	EVC2	HP:0001249	Intellectual disability	5/7	OMIM:615777
132884	EVC2	HP:0001263	Global developmental delay	-	OMIM:615777
132884	EVC2	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:289
132884	EVC2	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:952
132884	EVC2	HP:0001241	Capitate-hamate fusion	HP:0040282	ORPHA:289
132884	EVC2	HP:0001241	Capitate-hamate fusion	-	OMIM:225500
132884	EVC2	HP:0006035	Cone-shaped epiphyses of phalanges 2 to 5	-	OMIM:225500
132884	EVC2	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:289
132884	EVC2	HP:0002515	Waddling gait	54/102	OMIM:131300
132884	EVC2	HP:0000077	Abnormality of the kidney	HP:0040282	ORPHA:289
132884	EVC2	HP:0000072	Hydroureter	HP:0040283	ORPHA:289
132884	EVC2	HP:0000069	Abnormality of the ureter	HP:0040282	ORPHA:289
132884	EVC2	HP:0000039	Epispadias	HP:0040282	ORPHA:289
132884	EVC2	HP:0000039	Epispadias	-	OMIM:225500
132884	EVC2	HP:0001382	Joint hypermobility	-	OMIM:615777
132884	EVC2	HP:0000047	Hypospadias	HP:0040282	ORPHA:289
132884	EVC2	HP:0000047	Hypospadias	-	OMIM:225500
132884	EVC2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
132884	EVC2	HP:0000028	Cryptorchidism	-	OMIM:225500
132884	EVC2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:289
132884	EVC2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
132884	EVC2	HP:0008873	Disproportionate short-limb short stature	-	OMIM:225500
132884	EVC2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
132884	EVC2	HP:0001324	Muscle weakness	40/96	OMIM:131300
132884	EVC2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
132884	EVC2	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:289
132884	EVC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:225500
132884	EVC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
132884	EVC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:193530
132884	EVC2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
132884	EVC2	HP:0001305	Dandy-Walker malformation	-	OMIM:225500
132884	EVC2	HP:0002650	Scoliosis	12/14	OMIM:131300
132884	EVC2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
132884	EVC2	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040282	ORPHA:289
132884	EVC2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
132884	EVC2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
132884	EVC2	HP:0008921	Neonatal short-limb short stature	HP:0040281	ORPHA:289
132884	EVC2	HP:0008921	Neonatal short-limb short stature	-	OMIM:225500
132884	EVC2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
132884	EVC2	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:289
132884	EVC2	HP:0000190	Abnormal oral frenulum morphology	HP:0040281	ORPHA:952
132884	EVC2	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:289
132884	EVC2	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:952
132884	EVC2	HP:0000175	Cleft palate	2/7	OMIM:615777
132884	EVC2	HP:0006315	Solitary median maxillary central incisor	-	OMIM:193530
132884	EVC2	HP:0006315	Solitary median maxillary central incisor	HP:0040281	ORPHA:952
132884	EVC2	HP:0006288	Advanced eruption of teeth	HP:0040281	ORPHA:952
132884	EVC2	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:289
132884	EVC2	HP:0002006	Tessier cleft	HP:0040282	ORPHA:952
132884	EVC2	HP:0002097	Emphysema	HP:0040283	ORPHA:289
132884	EVC2	HP:0003388	Easy fatigability	36/76	OMIM:131300
132884	EVC2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
132884	EVC2	HP:0010454	Acetabular spurs	-	OMIM:225500
132884	EVC2	HP:0002164	Nail dysplasia	HP:0040281	ORPHA:289
132884	EVC2	HP:0002164	Nail dysplasia	-	OMIM:193530
132884	EVC2	HP:0002164	Nail dysplasia	-	OMIM:225500
132884	EVC2	HP:0010557	Overlapping fingers	HP:0040282	ORPHA:952
132884	EVC2	HP:0011830	Abnormal oral mucosa morphology	HP:0040281	ORPHA:289
132884	EVC2	HP:0009738	Abnormal antihelix morphology	HP:0040282	ORPHA:952
132884	EVC2	HP:0008404	Nail dystrophy	HP:0040281	ORPHA:952
132884	EVC2	HP:0100797	Toenail dysplasia	HP:0040281	ORPHA:952
132884	EVC2	HP:0003510	Severe short stature	7/7	OMIM:615777
132884	EVC2	HP:0003502	Mild short stature	-	OMIM:193530
132884	EVC2	HP:0003502	Mild short stature	HP:0040281	ORPHA:952
132884	EVC2	HP:0008388	Abnormal toenail morphology	HP:0040281	ORPHA:952
132884	EVC2	HP:0002315	Headache	-	OMIM:131300
132884	EVC2	HP:0004976	Knee dislocation	6/7	OMIM:615777
132884	EVC2	HP:0009803	Short phalanx of finger	-	OMIM:615777
132884	EVC2	HP:0200055	Small hand	HP:0040282	ORPHA:952
132884	EVC2	HP:0009763	Limb pain	63/92	OMIM:131300
132884	EVC2	HP:0003621	Juvenile onset	-	OMIM:131300
132884	EVC2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
132884	EVC2	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:193530
132884	EVC2	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:952
132884	EVC2	HP:0004279	Short palm	-	OMIM:193530
132884	EVC2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
132884	EVC2	HP:0005561	Abnormal bone marrow cell morphology	HP:0040283	ORPHA:289
132884	EVC2	HP:6001056	Out-toeing	-	OMIM:131300
132884	EVC2	HP:0000651	Diplopia	-	OMIM:131300
132884	EVC2	HP:0001956	Truncal obesity	2/7	OMIM:615777
132884	EVC2	HP:0000601	Hypotelorism	-	OMIM:193530
132884	EVC2	HP:0001903	Anemia	HP:0040283	OMIM:131300
132884	EVC2	HP:0010049	Short metacarpal	-	OMIM:615777
132884	EVC2	HP:0011362	Abnormal hair quantity	HP:0040283	ORPHA:289
132884	EVC2	HP:0000698	Conical tooth	-	OMIM:193530
132884	EVC2	HP:0000698	Conical tooth	HP:0040281	ORPHA:952
132884	EVC2	HP:0000684	Delayed eruption of teeth	HP:0040283	ORPHA:289
132884	EVC2	HP:0000684	Delayed eruption of teeth	-	OMIM:225500
132884	EVC2	HP:0000678	Dental crowding	-	OMIM:615777
132884	EVC2	HP:0000695	Natal tooth	-	OMIM:225500
132884	EVC2	HP:0000691	Microdontia	HP:0040282	ORPHA:289
132884	EVC2	HP:0000670	Carious teeth	-	OMIM:131300
132884	EVC2	HP:0011304	Broad thumb	2/7	OMIM:615777
132884	EVC2	HP:0000668	Hypodontia	-	OMIM:615777
132884	EVC2	HP:0000668	Hypodontia	HP:0040282	ORPHA:289
132884	EVC2	HP:0000668	Hypodontia	HP:0040281	ORPHA:952
132884	EVC2	HP:0000668	Hypodontia	-	OMIM:225500
132884	EVC2	HP:0000664	Synophrys	-	OMIM:615777
132884	EVC2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:289
132884	EVC2	HP:0004396	Poor appetite	-	OMIM:131300
132884	EVC2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
132884	EVC2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
132884	EVC2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
132884	EVC2	HP:0003026	Short long bone	7/7	OMIM:615777
132884	EVC2	HP:0003026	Short long bone	-	OMIM:225500
132884	EVC2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
132884	EVC2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
132884	EVC2	HP:0000768	Pectus carinatum	-	OMIM:225500
132884	EVC2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
132884	EVC2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
132884	EVC2	HP:0000750	Delayed speech and language development	-	OMIM:615777
132884	EVC2	HP:0011461	Fetal onset	7/7	OMIM:615777
132884	EVC2	HP:0000774	Narrow chest	HP:0040281	ORPHA:289
132884	EVC2	HP:0000774	Narrow chest	-	OMIM:225500
132884	EVC2	HP:0000774	Narrow chest	2/7	OMIM:615777
132884	EVC2	HP:0000773	Short ribs	-	OMIM:225500
132884	EVC2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:289
132884	EVC2	HP:0000926	Platyspondyly	1/7	OMIM:615777
132884	EVC2	HP:0003180	Flat acetabular roof	-	OMIM:615777
132884	EVC2	HP:0004482	Relative macrocephaly	-	OMIM:615777
132884	EVC2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
132884	EVC2	HP:0000888	Horizontal ribs	-	OMIM:225500
132884	EVC2	HP:0000823	Delayed puberty	-	OMIM:131300
132884	EVC2	HP:0011565	Common atrium	-	OMIM:225500
132884	EVC2	HP:0000894	Short clavicles	-	OMIM:615777
132884	EVC2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
132884	EVC2	HP:0010306	Short thorax	HP:0040281	ORPHA:289
132884	EVC2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
132884	EVC2	HP:0000968	Ectodermal dysplasia	-	OMIM:225500
132884	EVC2	HP:0000286	Epicanthus	1/7	OMIM:615777
132884	EVC2	HP:0000280	Coarse facial features	2/7	OMIM:615777
132884	EVC2	HP:0001595	Abnormal hair morphology	HP:0040281	ORPHA:289
132884	EVC2	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:289
132884	EVC2	HP:0006477	Abnormal alveolar ridge morphology	-	OMIM:225500
132884	EVC2	HP:0002827	Hip dislocation	3/7	OMIM:615777
132884	EVC2	HP:0005048	Synostosis of carpal bones	HP:0040283	ORPHA:289
132884	EVC2	HP:0000252	Microcephaly	-	OMIM:615777
132884	EVC2	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:289
132884	EVC2	HP:0002857	Genu valgum	-	OMIM:131300
132884	EVC2	HP:0002857	Genu valgum	HP:0040281	ORPHA:289
132884	EVC2	HP:0002857	Genu valgum	-	OMIM:225500
132884	EVC2	HP:0001533	Slender build	-	OMIM:131300
132884	EVC2	HP:0002866	Hypoplastic iliac wing	-	OMIM:225500
132884	EVC2	HP:0000204	Cleft upper lip	-	OMIM:225500
132884	EVC2	HP:0001508	Failure to thrive	HP:0040281	ORPHA:289
132884	EVC2	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:289
132884	EVC2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
132884	EVC2	HP:0007807	Optic nerve compression	-	OMIM:131300
132884	EVC2	HP:0011065	Conical incisor	HP:0040282	ORPHA:289
132884	EVC2	HP:0012368	Flat face	7/7	OMIM:615777
132884	EVC2	HP:0000395	Prominent antihelix	-	OMIM:193530
132884	EVC2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
132884	EVC2	HP:0001696	Situs inversus totalis	HP:0040282	ORPHA:289
132884	EVC2	HP:0000365	Hearing impairment	10/67	OMIM:131300
132884	EVC2	HP:0000343	Long philtrum	1/7	OMIM:615777
132884	EVC2	HP:0011001	Increased bone mineral density	-	OMIM:131300
132884	EVC2	HP:0002983	Micromelia	HP:0040281	ORPHA:289
132884	EVC2	HP:0001651	Dextrocardia	HP:0040282	ORPHA:289
132884	EVC2	HP:0000311	Round face	2/7	OMIM:615777
132884	EVC2	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:289
132884	EVC2	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:289
132884	EVC2	HP:0002970	Genu varum	-	OMIM:615777
132884	EVC2	HP:0002967	Cubitus valgus	HP:0040283	ORPHA:289
132884	EVC2	HP:0001631	Atrial septal defect	HP:0040282	ORPHA:289
132884	EVC2	HP:0001631	Atrial septal defect	-	OMIM:225500
132884	EVC2	HP:0000303	Mandibular prognathia	-	OMIM:131300
132884	EVC2	HP:0006695	Atrioventricular canal defect	HP:0040281	ORPHA:289
132884	EVC2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
132884	EVC2	HP:0000486	Strabismus	HP:0040282	ORPHA:289
132884	EVC2	HP:0001792	Small nail	HP:0040281	ORPHA:952
132884	EVC2	HP:0001792	Small nail	-	OMIM:193530
132884	EVC2	HP:0000470	Short neck	1/7	OMIM:615777
132884	EVC2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
132884	EVC2	HP:0001763	Pes planus	1/7	OMIM:615777
132884	EVC2	HP:0001762	Talipes equinovarus	-	OMIM:225500
132884	EVC2	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040282	ORPHA:289
132884	EVC2	HP:0001840	Metatarsus adductus	-	OMIM:615777
132884	EVC2	HP:0000520	Proptosis	2/4	OMIM:131300
132884	EVC2	HP:0000520	Proptosis	7/7	OMIM:615777
132884	EVC2	HP:0001829	Foot polydactyly	HP:0040281	ORPHA:289
132884	EVC2	HP:0001830	Postaxial foot polydactyly	-	OMIM:193530
132884	EVC2	HP:0001830	Postaxial foot polydactyly	-	OMIM:225500
132884	EVC2	HP:0001800	Hypoplastic toenails	HP:0040281	ORPHA:289
132884	EVC2	HP:0001800	Hypoplastic toenails	HP:0040281	ORPHA:952
132884	EVC2	HP:0000592	Blue sclerae	2/7	OMIM:615777
132884	EVC2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
132884	EVC2	HP:0012514	Lower limb pain	4/4	OMIM:131300
133396	IL31RA	HP:0000006	Autosomal dominant inheritance	-	OMIM:613955
133396	IL31RA	HP:0000989	Pruritus	-	OMIM:613955
133396	IL31RA	HP:0012309	Cutaneous amyloidosis	-	OMIM:613955
133686	NADK2	HP:0002478	Progressive spastic quadriplegia	HP:0040282	ORPHA:431361
133686	NADK2	HP:0002490	Increased CSF lactate	1/1	OMIM:616034
133686	NADK2	HP:0002470	Nonprogressive cerebellar ataxia	HP:0040282	ORPHA:431361
133686	NADK2	HP:0034919	Reduced liver 2,4-dienoyl-CoA reductase activity	1/1	OMIM:616034
133686	NADK2	HP:0034918	Reduced muscle 2,4-dienoyl-CoA reductase activity	1/1	OMIM:616034
133686	NADK2	HP:0002448	Progressive encephalopathy	HP:0040282	ORPHA:431361
133686	NADK2	HP:0002445	Tetraplegia	1/1	OMIM:616034
133686	NADK2	HP:0010967	Abnormal circulating carnitine concentration	HP:0040282	ORPHA:431361
133686	NADK2	HP:0002421	Poor head control	1/1	OMIM:616034
133686	NADK2	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:431361
133686	NADK2	HP:0002415	Leukodystrophy	1/1	OMIM:616034
133686	NADK2	HP:0001298	Encephalopathy	1/1	OMIM:616034
133686	NADK2	HP:0001272	Cerebellar atrophy	1/1	OMIM:616034
133686	NADK2	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:431361
133686	NADK2	HP:0001250	Seizure	1/1	OMIM:616034
133686	NADK2	HP:0001250	Seizure	HP:0040282	ORPHA:431361
133686	NADK2	HP:0001252	Hypotonia	1/1	OMIM:616034
133686	NADK2	HP:0001251	Ataxia	1/1	OMIM:616034
133686	NADK2	HP:0001266	Choreoathetosis	HP:0040282	ORPHA:431361
133686	NADK2	HP:0001266	Choreoathetosis	1/1	OMIM:616034
133686	NADK2	HP:0001263	Global developmental delay	1/1	OMIM:616034
133686	NADK2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:431361
133686	NADK2	HP:0001257	Spasticity	1/1	OMIM:616034
133686	NADK2	HP:0500208	Increased CSF lysine concentration	2/2	OMIM:616034
133686	NADK2	HP:0003819	Death in childhood	1/1	OMIM:616034
133686	NADK2	HP:0001332	Dystonia	1/1	OMIM:616034
133686	NADK2	HP:0001332	Dystonia	HP:0040282	ORPHA:431361
133686	NADK2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616034
133686	NADK2	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:431361
133686	NADK2	HP:0002033	Poor suck	1/1	OMIM:616034
133686	NADK2	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:616034
133686	NADK2	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:431361
133686	NADK2	HP:0002059	Cerebral atrophy	1/1	OMIM:616034
133686	NADK2	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:616034
133686	NADK2	HP:0002119	Ventriculomegaly	2/2	OMIM:616034
133686	NADK2	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:431361
133686	NADK2	HP:0002188	Delayed CNS myelination	1/1	OMIM:616034
133686	NADK2	HP:0002169	Clonus	1/1	OMIM:616034
133686	NADK2	HP:0002161	Hyperlysinemia	HP:0040282	ORPHA:431361
133686	NADK2	HP:0002161	Hyperlysinemia	2/2	OMIM:616034
133686	NADK2	HP:0010536	Central sleep apnea	HP:0040282	ORPHA:431361
133686	NADK2	HP:0003593	Infantile onset	1/1	OMIM:616034
133686	NADK2	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:431361
133686	NADK2	HP:0100704	Cerebral visual impairment	1/1	OMIM:616034
133686	NADK2	HP:0004897	Stress/infection-induced lactic acidosis	HP:0040282	ORPHA:431361
133686	NADK2	HP:0007034	Generalized hyperreflexia	1/1	OMIM:616034
133686	NADK2	HP:0011968	Feeding difficulties	1/1	OMIM:616034
133686	NADK2	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:431361
133686	NADK2	HP:0008315	Decreased plasma free carnitine	1/1	OMIM:616034
133686	NADK2	HP:6000478	Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration	-	OMIM:616034
133686	NADK2	HP:0002311	Incoordination	1/1	OMIM:616034
133686	NADK2	HP:0000639	Nystagmus	HP:0040282	ORPHA:431361
133686	NADK2	HP:0000639	Nystagmus	1/1	OMIM:616034
133686	NADK2	HP:0000648	Optic atrophy	1/1	OMIM:616034
133686	NADK2	HP:0001947	Renal tubular acidosis	HP:0040282	ORPHA:431361
133686	NADK2	HP:0001942	Metabolic acidosis	1/1	OMIM:616034
133686	NADK2	HP:0000602	Ophthalmoplegia	1/1	OMIM:616034
133686	NADK2	HP:0001992	Organic aciduria	HP:0040282	ORPHA:431361
133686	NADK2	HP:0034197	Third trimester onset	1/1	OMIM:616034
133686	NADK2	HP:0012751	Abnormal basal ganglia MRI signal intensity	HP:0040282	ORPHA:431361
133686	NADK2	HP:0003234	Decreased circulating carnitine concentration	HP:0040282	ORPHA:431361
133686	NADK2	HP:0003206	Decreased activity of NADPH oxidase	HP:0040282	ORPHA:431361
133686	NADK2	HP:0003297	Hyperlysinuria	2/2	OMIM:616034
133686	NADK2	HP:0000238	Hydrocephalus	1/1	OMIM:616034
133686	NADK2	HP:0000252	Microcephaly	2/2	OMIM:616034
133686	NADK2	HP:0000252	Microcephaly	HP:0040282	ORPHA:431361
133686	NADK2	HP:0001522	Death in infancy	-	OMIM:616034
133686	NADK2	HP:0001508	Failure to thrive	HP:0040282	ORPHA:431361
133686	NADK2	HP:0001508	Failure to thrive	1/1	OMIM:616034
133686	NADK2	HP:0030048	Colpocephaly	1/1	OMIM:616034
133686	NADK2	HP:0001511	Intrauterine growth retardation	1/1	OMIM:616034
133686	NADK2	HP:0011150	Myoclonic absence seizure	1/1	OMIM:616034
133686	NADK2	HP:0001733	Pancreatitis	HP:0040282	ORPHA:431361
133686	NADK2	HP:0000496	Abnormality of eye movement	-	OMIM:616034
133686	NADK2	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:431361
133686	NADK2	HP:0000540	Hypermetropia	1/1	OMIM:616034
134218	DNAJC21	HP:0001167	Abnormal finger morphology	HP:0040284	ORPHA:811
134218	DNAJC21	HP:0410255	Transiently decreased total neutrophil count	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0410252	Persistently decreased total neutrophil count	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
134218	DNAJC21	HP:0001293	Cranial nerve compression	-	OMIM:131300
134218	DNAJC21	HP:0100806	Sepsis	HP:0040284	ORPHA:811
134218	DNAJC21	HP:0001270	Motor delay	1/4	OMIM:617052
134218	DNAJC21	HP:0001256	Intellectual disability, mild	-	OMIM:260400
134218	DNAJC21	HP:0001252	Hypotonia	2/7	OMIM:615777
134218	DNAJC21	HP:0001249	Intellectual disability	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0001249	Intellectual disability	5/7	OMIM:615777
134218	DNAJC21	HP:0002594	Pancreatic hypoplasia	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0001263	Global developmental delay	3/8	OMIM:617052
134218	DNAJC21	HP:0001263	Global developmental delay	-	OMIM:260400
134218	DNAJC21	HP:0001263	Global developmental delay	-	OMIM:615777
134218	DNAJC21	HP:0002570	Steatorrhea	-	OMIM:260400
134218	DNAJC21	HP:0002570	Steatorrhea	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0100840	Aplasia/Hypoplasia of the eyebrow	-	OMIM:617052
134218	DNAJC21	HP:0410289	Hypoamylasemia	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0002515	Waddling gait	54/102	OMIM:131300
134218	DNAJC21	HP:0001374	Congenital hip dislocation	-	OMIM:617052
134218	DNAJC21	HP:0001367	Abnormal joint morphology	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0001382	Joint hypermobility	-	OMIM:617052
134218	DNAJC21	HP:0001382	Joint hypermobility	-	OMIM:615777
134218	DNAJC21	HP:0002694	Sclerosis of skull base	-	OMIM:131300
134218	DNAJC21	HP:0000028	Cryptorchidism	-	OMIM:617052
134218	DNAJC21	HP:0008897	Postnatal growth retardation	-	OMIM:615777
134218	DNAJC21	HP:0001328	Specific learning disability	-	OMIM:260400
134218	DNAJC21	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
134218	DNAJC21	HP:0001324	Muscle weakness	40/96	OMIM:131300
134218	DNAJC21	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
134218	DNAJC21	HP:0000007	Autosomal recessive inheritance	-	OMIM:617052
134218	DNAJC21	HP:0000007	Autosomal recessive inheritance	-	OMIM:260400
134218	DNAJC21	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
134218	DNAJC21	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
134218	DNAJC21	HP:0002650	Scoliosis	12/14	OMIM:131300
134218	DNAJC21	HP:0033757	Pancreatic steatosis	1/4	OMIM:617052
134218	DNAJC21	HP:0002643	Neonatal respiratory distress	-	OMIM:260400
134218	DNAJC21	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
134218	DNAJC21	HP:0002630	Fat malabsorption	HP:0040281	ORPHA:811
134218	DNAJC21	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
134218	DNAJC21	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
134218	DNAJC21	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
134218	DNAJC21	HP:0000175	Cleft palate	2/7	OMIM:615777
134218	DNAJC21	HP:0000155	Oral ulcer	1/4	OMIM:617052
134218	DNAJC21	HP:0000155	Oral ulcer	HP:0040284	ORPHA:811
134218	DNAJC21	HP:0006297	Enamel hypoplasia	-	OMIM:617052
134218	DNAJC21	HP:0006276	Hyperechogenic pancreas	3/3	OMIM:617052
134218	DNAJC21	HP:0000121	Nephrocalcinosis	-	OMIM:260400
134218	DNAJC21	HP:0002754	Osteomyelitis	HP:0040284	ORPHA:811
134218	DNAJC21	HP:0002750	Delayed skeletal maturation	-	OMIM:260400
134218	DNAJC21	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0002719	Recurrent infections	-	OMIM:260400
134218	DNAJC21	HP:0002719	Recurrent infections	1/4	OMIM:617052
134218	DNAJC21	HP:0002718	Recurrent bacterial infections	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0002714	Downturned corners of mouth	1/4	OMIM:617052
134218	DNAJC21	HP:0002721	Immunodeficiency	HP:0040284	ORPHA:811
134218	DNAJC21	HP:0003300	Ovoid vertebral bodies	-	OMIM:260400
134218	DNAJC21	HP:0002098	Respiratory distress	-	OMIM:260400
134218	DNAJC21	HP:0002090	Pneumonia	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0003375	Narrow greater sciatic notch	-	OMIM:260400
134218	DNAJC21	HP:0003388	Easy fatigability	36/76	OMIM:131300
134218	DNAJC21	HP:0100512	Decreased circulating vitamin D concentration	3/4	OMIM:617052
134218	DNAJC21	HP:0100512	Decreased circulating vitamin D concentration	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0100513	Decreased circulating vitamin E concentration	3/3	OMIM:617052
134218	DNAJC21	HP:0100513	Decreased circulating vitamin E concentration	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
134218	DNAJC21	HP:0003411	Proximal femoral metaphyseal irregularity	6/6	OMIM:260400
134218	DNAJC21	HP:0011904	Persistence of hemoglobin F	3/4	OMIM:617052
134218	DNAJC21	HP:0011904	Persistence of hemoglobin F	-	OMIM:260400
134218	DNAJC21	HP:0011892	Decreased circulating vitamin K concentration	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0002240	Hepatomegaly	-	OMIM:260400
134218	DNAJC21	HP:0002240	Hepatomegaly	HP:0040284	ORPHA:811
134218	DNAJC21	HP:0008404	Nail dystrophy	-	OMIM:617052
134218	DNAJC21	HP:0009719	Hypomelanotic macule	1/4	OMIM:617052
134218	DNAJC21	HP:0100790	Hernia	-	OMIM:617052
134218	DNAJC21	HP:0011968	Feeding difficulties	1/4	OMIM:617052
134218	DNAJC21	HP:0003510	Severe short stature	7/7	OMIM:615777
134218	DNAJC21	HP:0004808	Acute myeloid leukemia	1/4	OMIM:617052
134218	DNAJC21	HP:0004808	Acute myeloid leukemia	-	OMIM:260400
134218	DNAJC21	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0004979	Metaphyseal sclerosis	-	OMIM:260400
134218	DNAJC21	HP:0002315	Headache	-	OMIM:131300
134218	DNAJC21	HP:0004976	Knee dislocation	6/7	OMIM:615777
134218	DNAJC21	HP:0009803	Short phalanx of finger	-	OMIM:615777
134218	DNAJC21	HP:0009763	Limb pain	63/92	OMIM:131300
134218	DNAJC21	HP:0003623	Neonatal onset	3/4	OMIM:617052
134218	DNAJC21	HP:0003621	Juvenile onset	-	OMIM:131300
134218	DNAJC21	HP:0004905	Reduced circulating vitamin A concentration	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0005528	Bone marrow hypocellularity	7/8	OMIM:617052
134218	DNAJC21	HP:0005528	Bone marrow hypocellularity	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
134218	DNAJC21	HP:0005518	Increased mean corpuscular volume	1/4	OMIM:617052
134218	DNAJC21	HP:0005518	Increased mean corpuscular volume	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
134218	DNAJC21	HP:6001056	Out-toeing	-	OMIM:131300
134218	DNAJC21	HP:0000651	Diplopia	-	OMIM:131300
134218	DNAJC21	HP:0001972	Macrocytic anemia	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0001956	Truncal obesity	2/7	OMIM:615777
134218	DNAJC21	HP:0001909	Leukemia	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0001903	Anemia	-	OMIM:260400
134218	DNAJC21	HP:0001903	Anemia	4/4	OMIM:617052
134218	DNAJC21	HP:0001903	Anemia	HP:0040281	ORPHA:811
134218	DNAJC21	HP:0001903	Anemia	HP:0040283	OMIM:131300
134218	DNAJC21	HP:0001915	Aplastic anemia	1/4	OMIM:617052
134218	DNAJC21	HP:0001915	Aplastic anemia	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0010049	Short metacarpal	-	OMIM:615777
134218	DNAJC21	HP:0000684	Delayed eruption of teeth	HP:0040284	ORPHA:811
134218	DNAJC21	HP:0000678	Dental crowding	-	OMIM:615777
134218	DNAJC21	HP:0000691	Microdontia	-	OMIM:617052
134218	DNAJC21	HP:0000670	Carious teeth	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0000670	Carious teeth	-	OMIM:131300
134218	DNAJC21	HP:0011304	Broad thumb	2/7	OMIM:615777
134218	DNAJC21	HP:0000668	Hypodontia	-	OMIM:615777
134218	DNAJC21	HP:0000668	Hypodontia	HP:0040283	OMIM:617052
134218	DNAJC21	HP:0000664	Synophrys	-	OMIM:615777
134218	DNAJC21	HP:0004322	Short stature	5/8	OMIM:617052
134218	DNAJC21	HP:0004322	Short stature	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0004322	Short stature	-	OMIM:260400
134218	DNAJC21	HP:0004396	Poor appetite	-	OMIM:131300
134218	DNAJC21	HP:0004395	Malnutrition	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
134218	DNAJC21	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
134218	DNAJC21	HP:0003016	Metaphyseal widening	-	OMIM:260400
134218	DNAJC21	HP:0003016	Metaphyseal widening	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
134218	DNAJC21	HP:0003026	Short long bone	7/7	OMIM:615777
134218	DNAJC21	HP:0003025	Metaphyseal irregularity	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
134218	DNAJC21	HP:0004349	Reduced bone mineral density	-	OMIM:617052
134218	DNAJC21	HP:0000752	Hyperactivity	HP:0040284	OMIM:617052
134218	DNAJC21	HP:0000767	Pectus excavatum	2/7	OMIM:615777
134218	DNAJC21	HP:0000768	Pectus carinatum	1/7	OMIM:615777
134218	DNAJC21	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
134218	DNAJC21	HP:0000736	Short attention span	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0000750	Delayed speech and language development	-	OMIM:615777
134218	DNAJC21	HP:0000729	Autistic behavior	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0000708	Atypical behavior	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0000705	Amelogenesis imperfecta	-	OMIM:617052
134218	DNAJC21	HP:0011463	Childhood onset	1/4	OMIM:617052
134218	DNAJC21	HP:0011461	Fetal onset	7/7	OMIM:615777
134218	DNAJC21	HP:0000774	Narrow chest	-	OMIM:260400
134218	DNAJC21	HP:0000774	Narrow chest	2/7	OMIM:615777
134218	DNAJC21	HP:0004429	Recurrent viral infections	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0000924	Abnormality of the skeletal system	HP:0040281	ORPHA:811
134218	DNAJC21	HP:0000926	Platyspondyly	1/7	OMIM:615777
134218	DNAJC21	HP:0000920	Enlargement of the costochondral junction	-	OMIM:260400
134218	DNAJC21	HP:0003180	Flat acetabular roof	-	OMIM:615777
134218	DNAJC21	HP:0000907	Anterior rib cupping	6/6	OMIM:260400
134218	DNAJC21	HP:0004482	Relative macrocephaly	-	OMIM:615777
134218	DNAJC21	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
134218	DNAJC21	HP:0000886	Deformed rib cage	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0000819	Diabetes mellitus	HP:0040284	ORPHA:811
134218	DNAJC21	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040284	ORPHA:811
134218	DNAJC21	HP:0000823	Delayed puberty	-	OMIM:131300
134218	DNAJC21	HP:0040012	Chromosome breakage	0/7	OMIM:617052
134218	DNAJC21	HP:0040075	Hypopituitarism	HP:0040284	ORPHA:811
134218	DNAJC21	HP:0000894	Short clavicles	-	OMIM:615777
134218	DNAJC21	HP:0005871	Metaphyseal chondrodysplasia	-	OMIM:260400
134218	DNAJC21	HP:0005871	Metaphyseal chondrodysplasia	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
134218	DNAJC21	HP:0040238	Impaired neutrophil chemotaxis	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0045027	Abnormality of the thoracic cavity	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0100255	Metaphyseal dysplasia	2/4	OMIM:617052
134218	DNAJC21	HP:0000988	Skin rash	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
134218	DNAJC21	HP:0000964	Eczematoid dermatitis	HP:0040284	ORPHA:811
134218	DNAJC21	HP:0000964	Eczematoid dermatitis	1/4	OMIM:617052
134218	DNAJC21	HP:0000962	Hyperkeratosis	1/4	OMIM:617052
134218	DNAJC21	HP:0000938	Osteopenia	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0008070	Sparse hair	-	OMIM:617052
134218	DNAJC21	HP:0008064	Ichthyosis	HP:0040284	ORPHA:811
134218	DNAJC21	HP:0000286	Epicanthus	-	OMIM:617052
134218	DNAJC21	HP:0000286	Epicanthus	1/7	OMIM:615777
134218	DNAJC21	HP:0000280	Coarse facial features	2/7	OMIM:615777
134218	DNAJC21	HP:0031413	Short telomere length	0/4	OMIM:617052
134218	DNAJC21	HP:0006461	Proximal femoral epiphysiolysis	-	OMIM:260400
134218	DNAJC21	HP:0006461	Proximal femoral epiphysiolysis	HP:0040284	ORPHA:811
134218	DNAJC21	HP:0002812	Coxa vara	-	OMIM:260400
134218	DNAJC21	HP:0002827	Hip dislocation	3/7	OMIM:615777
134218	DNAJC21	HP:0000252	Microcephaly	2/4	OMIM:617052
134218	DNAJC21	HP:0000252	Microcephaly	-	OMIM:615777
134218	DNAJC21	HP:0000246	Sinusitis	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0012202	Increased serum bile acid concentration	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0002857	Genu valgum	-	OMIM:131300
134218	DNAJC21	HP:0001533	Slender build	-	OMIM:131300
134218	DNAJC21	HP:0002863	Myelodysplasia	-	OMIM:260400
134218	DNAJC21	HP:0002863	Myelodysplasia	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0001508	Failure to thrive	1/4	OMIM:617052
134218	DNAJC21	HP:0001508	Failure to thrive	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0001508	Failure to thrive	-	OMIM:260400
134218	DNAJC21	HP:0001518	Small for gestational age	-	OMIM:260400
134218	DNAJC21	HP:0001511	Intrauterine growth retardation	4/4	OMIM:617052
134218	DNAJC21	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
134218	DNAJC21	HP:0001510	Growth delay	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0007807	Optic nerve compression	-	OMIM:131300
134218	DNAJC21	HP:0012368	Flat face	7/7	OMIM:615777
134218	DNAJC21	HP:0000378	Cupped ear	1/4	OMIM:617052
134218	DNAJC21	HP:0006598	Irregular ossification at anterior rib ends	-	OMIM:260400
134218	DNAJC21	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
134218	DNAJC21	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040284	ORPHA:811
134218	DNAJC21	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:260400
134218	DNAJC21	HP:0000365	Hearing impairment	HP:0040284	OMIM:617052
134218	DNAJC21	HP:0000365	Hearing impairment	HP:0040284	ORPHA:811
134218	DNAJC21	HP:0000365	Hearing impairment	10/67	OMIM:131300
134218	DNAJC21	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040281	ORPHA:811
134218	DNAJC21	HP:0000356	Abnormality of the outer ear	HP:0040284	ORPHA:811
134218	DNAJC21	HP:0000343	Long philtrum	1/7	OMIM:615777
134218	DNAJC21	HP:0011001	Increased bone mineral density	-	OMIM:131300
134218	DNAJC21	HP:0000347	Micrognathia	-	OMIM:617052
134218	DNAJC21	HP:0000316	Hypertelorism	-	OMIM:617052
134218	DNAJC21	HP:0000311	Round face	2/7	OMIM:615777
134218	DNAJC21	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0002953	Vertebral compression fracture	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0002970	Genu varum	-	OMIM:615777
134218	DNAJC21	HP:0000303	Mandibular prognathia	-	OMIM:131300
134218	DNAJC21	HP:0007973	Retinal dysplasia	1/4	OMIM:617052
134218	DNAJC21	HP:0001738	Exocrine pancreatic insufficiency	2/4	OMIM:617052
134218	DNAJC21	HP:0001738	Exocrine pancreatic insufficiency	-	OMIM:260400
134218	DNAJC21	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:811
134218	DNAJC21	HP:0001700	Myocardial necrosis	-	OMIM:260400
134218	DNAJC21	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
134218	DNAJC21	HP:0000483	Astigmatism	-	OMIM:617052
134218	DNAJC21	HP:0000494	Downslanted palpebral fissures	-	OMIM:617052
134218	DNAJC21	HP:0000490	Deeply set eye	1/4	OMIM:617052
134218	DNAJC21	HP:0001792	Small nail	-	OMIM:617052
134218	DNAJC21	HP:0000470	Short neck	1/7	OMIM:615777
134218	DNAJC21	HP:0001769	Broad foot	HP:0040283	OMIM:615777
134218	DNAJC21	HP:0001763	Pes planus	1/7	OMIM:615777
134218	DNAJC21	HP:0001840	Metatarsus adductus	-	OMIM:615777
134218	DNAJC21	HP:0000520	Proptosis	2/4	OMIM:131300
134218	DNAJC21	HP:0000520	Proptosis	7/7	OMIM:615777
134218	DNAJC21	HP:0000592	Blue sclerae	2/7	OMIM:615777
134218	DNAJC21	HP:0000556	Retinal dystrophy	2/8	OMIM:617052
134218	DNAJC21	HP:0001897	Normocytic anemia	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0001871	Abnormality of blood and blood-forming tissues	HP:0040281	ORPHA:811
134218	DNAJC21	HP:0000540	Hypermetropia	-	OMIM:617052
134218	DNAJC21	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
134218	DNAJC21	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0012514	Lower limb pain	4/4	OMIM:131300
134218	DNAJC21	HP:0001873	Thrombocytopenia	-	OMIM:260400
134218	DNAJC21	HP:0001873	Thrombocytopenia	3/4	OMIM:617052
134218	DNAJC21	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:811
134218	DNAJC21	HP:0001876	Pancytopenia	-	OMIM:260400
134218	DNAJC21	HP:0001876	Pancytopenia	HP:0040283	ORPHA:811
134218	DNAJC21	HP:0001876	Pancytopenia	6/8	OMIM:617052
134218	DNAJC21	HP:0000545	Myopia	-	OMIM:617052
134218	DNAJC21	HP:0001875	Decreased total neutrophil count	HP:0040281	ORPHA:811
134218	DNAJC21	HP:0001875	Decreased total neutrophil count	-	OMIM:260400
134218	DNAJC21	HP:0001875	Decreased total neutrophil count	4/4	OMIM:617052
134353	LSM11	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:51
134353	LSM11	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:51
134353	LSM11	HP:0001276	Hypertonia	HP:0040281	ORPHA:51
134353	LSM11	HP:0001288	Gait disturbance	HP:0040282	ORPHA:51
134353	LSM11	HP:0001250	Seizure	HP:0040282	ORPHA:51
134353	LSM11	HP:0001250	Seizure	1/2	OMIM:619486
134353	LSM11	HP:0001263	Global developmental delay	HP:0040281	ORPHA:51
134353	LSM11	HP:0001257	Spasticity	HP:0040281	ORPHA:51
134353	LSM11	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:51
134353	LSM11	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:51
134353	LSM11	HP:0002500	Abnormal cerebral white matter morphology	2/2	OMIM:619486
134353	LSM11	HP:0001369	Arthritis	HP:0040283	ORPHA:51
134353	LSM11	HP:0000054	Micropenis	HP:0040283	ORPHA:51
134353	LSM11	HP:0000050	Hypoplastic male external genitalia	2/2	OMIM:619486
134353	LSM11	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:51
134353	LSM11	HP:0001332	Dystonia	HP:0040282	ORPHA:51
134353	LSM11	HP:0000007	Autosomal recessive inheritance	-	OMIM:619486
134353	LSM11	HP:0001337	Tremor	HP:0040283	ORPHA:51
134353	LSM11	HP:0002650	Scoliosis	HP:0040283	ORPHA:51
134353	LSM11	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:51
134353	LSM11	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:51
134353	LSM11	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:51
134353	LSM11	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:51
134353	LSM11	HP:0002059	Cerebral atrophy	2/2	OMIM:619486
134353	LSM11	HP:0100578	Lipoatrophy	HP:0040284	ORPHA:51
134353	LSM11	HP:0002139	Arrhinencephaly	HP:0040281	ORPHA:51
134353	LSM11	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:51
134353	LSM11	HP:0002135	Basal ganglia calcification	2/2	OMIM:619486
134353	LSM11	HP:0002132	Porencephalic cyst	HP:0040281	ORPHA:51
134353	LSM11	HP:0002187	Intellectual disability, profound	HP:0040281	ORPHA:51
134353	LSM11	HP:0011834	Moyamoya phenomenon	HP:0040284	ORPHA:51
134353	LSM11	HP:0003577	Congenital onset	2/2	OMIM:619486
134353	LSM11	HP:0003552	Muscle stiffness	HP:0040283	ORPHA:51
134353	LSM11	HP:0009709	Increased CSF interferon alpha	HP:0040282	ORPHA:51
134353	LSM11	HP:0009710	Chilblains	HP:0040282	ORPHA:51
134353	LSM11	HP:0009704	Chronic CSF lymphocytosis	HP:0040282	ORPHA:51
134353	LSM11	HP:0004809	Neonatal alloimmune thrombocytopenia	HP:0040283	ORPHA:51
134353	LSM11	HP:0007076	Extrapyramidal muscular rigidity	HP:0040282	ORPHA:51
134353	LSM11	HP:0007052	Multifocal cerebral white matter abnormalities	HP:0040281	ORPHA:51
134353	LSM11	HP:0001063	Acrocyanosis	HP:0040283	ORPHA:51
134353	LSM11	HP:0002376	Developmental regression	HP:0040282	ORPHA:51
134353	LSM11	HP:0002371	Loss of speech	HP:0040282	ORPHA:51
134353	LSM11	HP:0002315	Headache	HP:0040283	ORPHA:51
134353	LSM11	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:51
134353	LSM11	HP:0100614	Myositis	HP:0040284	ORPHA:51
134353	LSM11	HP:0001087	Developmental glaucoma	HP:0040283	ORPHA:51
134353	LSM11	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:51
134353	LSM11	HP:0004963	Calcification of the aorta	HP:0040284	ORPHA:51
134353	LSM11	HP:0004942	Aortic aneurysm	HP:0040284	ORPHA:51
134353	LSM11	HP:0005550	Chronic lymphatic leukemia	HP:0040284	ORPHA:51
134353	LSM11	HP:0000639	Nystagmus	1/2	OMIM:619486
134353	LSM11	HP:0000639	Nystagmus	HP:0040283	ORPHA:51
134353	LSM11	HP:0001955	Unexplained fevers	HP:0040282	ORPHA:51
134353	LSM11	HP:0000625	Eyelid coloboma	HP:0040282	ORPHA:51
134353	LSM11	HP:0011344	Severe global developmental delay	2/2	OMIM:619486
134353	LSM11	HP:0004322	Short stature	HP:0040282	ORPHA:51
134353	LSM11	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:51
134353	LSM11	HP:0000737	Irritability	HP:0040282	ORPHA:51
134353	LSM11	HP:0000737	Irritability	2/2	OMIM:619486
134353	LSM11	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:51
134353	LSM11	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:51
134353	LSM11	HP:0030880	Raynaud phenomenon	HP:0040283	ORPHA:51
134353	LSM11	HP:0000958	Dry skin	HP:0040282	ORPHA:51
134353	LSM11	HP:0000965	Cutis marmorata	HP:0040283	ORPHA:51
134353	LSM11	HP:0040140	Degeneration of the striatum	HP:0040284	ORPHA:51
134353	LSM11	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:51
134353	LSM11	HP:0012229	CSF pleocytosis	2/2	OMIM:619486
134353	LSM11	HP:0000252	Microcephaly	HP:0040282	ORPHA:51
134353	LSM11	HP:0030038	Enchondroma	HP:0040284	ORPHA:51
134353	LSM11	HP:0006579	Prolonged neonatal jaundice	HP:0040283	ORPHA:51
134353	LSM11	HP:0001609	Hoarse voice	HP:0040283	ORPHA:51
134353	LSM11	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:51
134353	LSM11	HP:0000369	Low-set ears	HP:0040283	ORPHA:51
134353	LSM11	HP:0002960	Autoimmunity	HP:0040282	ORPHA:51
134353	LSM11	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:51
134353	LSM11	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:51
134353	LSM11	HP:0012490	Panniculitis	HP:0040283	ORPHA:51
134353	LSM11	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:51
134353	LSM11	HP:0012444	Brain atrophy	HP:0040282	ORPHA:51
134353	LSM11	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:51
134353	LSM11	HP:0000508	Ptosis	HP:0040283	ORPHA:51
134353	LSM11	HP:0000501	Glaucoma	HP:0040283	ORPHA:51
134353	LSM11	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040282	ORPHA:51
134359	POC5	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
134359	POC5	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
134359	POC5	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
134359	POC5	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
134359	POC5	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
134359	POC5	HP:0003621	Juvenile onset	8/19	OMIM:180100
134359	POC5	HP:0000662	Nyctalopia	26/28	OMIM:180100
134359	POC5	HP:0011463	Childhood onset	3/19	OMIM:180100
134359	POC5	HP:0011462	Young adult onset	8/19	OMIM:180100
134359	POC5	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
134359	POC5	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
134359	POC5	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
134359	POC5	HP:0000575	Scotoma	5/18	OMIM:180100
134359	POC5	HP:0000543	Optic disc pallor	1/1	OMIM:180100
134359	POC5	HP:0000545	Myopia	-	OMIM:180100
134430	WDR36	HP:0012108	Open angle glaucoma	-	OMIM:609887
134701	RIPPLY2	HP:0002435	Meningocele	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
134701	RIPPLY2	HP:0001293	Cranial nerve compression	-	OMIM:131300
134701	RIPPLY2	HP:0001252	Hypotonia	2/7	OMIM:615777
134701	RIPPLY2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0001249	Intellectual disability	5/7	OMIM:615777
134701	RIPPLY2	HP:0001263	Global developmental delay	-	OMIM:615777
134701	RIPPLY2	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0010978	Abnormality of immune system physiology	HP:0040281	ORPHA:2311
134701	RIPPLY2	HP:0002515	Waddling gait	54/102	OMIM:131300
134701	RIPPLY2	HP:0000069	Abnormality of the ureter	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0001382	Joint hypermobility	-	OMIM:615777
134701	RIPPLY2	HP:0000047	Hypospadias	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
134701	RIPPLY2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
134701	RIPPLY2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
134701	RIPPLY2	HP:0001324	Muscle weakness	40/96	OMIM:131300
134701	RIPPLY2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
134701	RIPPLY2	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616566
134701	RIPPLY2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
134701	RIPPLY2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
134701	RIPPLY2	HP:0002650	Scoliosis	1/2	OMIM:616566
134701	RIPPLY2	HP:0002650	Scoliosis	HP:0040281	ORPHA:2311
134701	RIPPLY2	HP:0002650	Scoliosis	12/14	OMIM:131300
134701	RIPPLY2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
134701	RIPPLY2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
134701	RIPPLY2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
134701	RIPPLY2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
134701	RIPPLY2	HP:0000175	Cleft palate	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0000175	Cleft palate	2/7	OMIM:615777
134701	RIPPLY2	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:2311
134701	RIPPLY2	HP:0003316	Butterfly vertebrae	1/2	OMIM:616566
134701	RIPPLY2	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2311
134701	RIPPLY2	HP:0003388	Easy fatigability	36/76	OMIM:131300
134701	RIPPLY2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
134701	RIPPLY2	HP:0100589	Urogenital fistula	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0003422	Vertebral segmentation defect	HP:0040281	ORPHA:2311
134701	RIPPLY2	HP:0003416	Spinal canal stenosis	1/2	OMIM:616566
134701	RIPPLY2	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0003510	Severe short stature	7/7	OMIM:615777
134701	RIPPLY2	HP:0002315	Headache	-	OMIM:131300
134701	RIPPLY2	HP:0004976	Knee dislocation	6/7	OMIM:615777
134701	RIPPLY2	HP:0009803	Short phalanx of finger	-	OMIM:615777
134701	RIPPLY2	HP:0010772	Anomalous pulmonary venous return	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0009763	Limb pain	63/92	OMIM:131300
134701	RIPPLY2	HP:0003621	Juvenile onset	-	OMIM:131300
134701	RIPPLY2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
134701	RIPPLY2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
134701	RIPPLY2	HP:6001056	Out-toeing	-	OMIM:131300
134701	RIPPLY2	HP:0000651	Diplopia	-	OMIM:131300
134701	RIPPLY2	HP:0001956	Truncal obesity	2/7	OMIM:615777
134701	RIPPLY2	HP:0001903	Anemia	HP:0040283	OMIM:131300
134701	RIPPLY2	HP:0010049	Short metacarpal	-	OMIM:615777
134701	RIPPLY2	HP:0000678	Dental crowding	-	OMIM:615777
134701	RIPPLY2	HP:0000670	Carious teeth	-	OMIM:131300
134701	RIPPLY2	HP:0011304	Broad thumb	2/7	OMIM:615777
134701	RIPPLY2	HP:0000668	Hypodontia	-	OMIM:615777
134701	RIPPLY2	HP:0000664	Synophrys	-	OMIM:615777
134701	RIPPLY2	HP:0004322	Short stature	HP:0040281	ORPHA:2311
134701	RIPPLY2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0004396	Poor appetite	-	OMIM:131300
134701	RIPPLY2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
134701	RIPPLY2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
134701	RIPPLY2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
134701	RIPPLY2	HP:0003026	Short long bone	7/7	OMIM:615777
134701	RIPPLY2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
134701	RIPPLY2	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:2311
134701	RIPPLY2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
134701	RIPPLY2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
134701	RIPPLY2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
134701	RIPPLY2	HP:0000750	Delayed speech and language development	-	OMIM:615777
134701	RIPPLY2	HP:0011461	Fetal onset	7/7	OMIM:615777
134701	RIPPLY2	HP:0000774	Narrow chest	2/7	OMIM:615777
134701	RIPPLY2	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0000926	Platyspondyly	1/7	OMIM:615777
134701	RIPPLY2	HP:0003180	Flat acetabular roof	-	OMIM:615777
134701	RIPPLY2	HP:0000902	Rib fusion	HP:0040281	ORPHA:2311
134701	RIPPLY2	HP:0004482	Relative macrocephaly	-	OMIM:615777
134701	RIPPLY2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
134701	RIPPLY2	HP:0000823	Delayed puberty	-	OMIM:131300
134701	RIPPLY2	HP:0000894	Short clavicles	-	OMIM:615777
134701	RIPPLY2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
134701	RIPPLY2	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0010306	Short thorax	HP:0040281	ORPHA:2311
134701	RIPPLY2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
134701	RIPPLY2	HP:0000286	Epicanthus	1/7	OMIM:615777
134701	RIPPLY2	HP:0000280	Coarse facial features	2/7	OMIM:615777
134701	RIPPLY2	HP:0000256	Macrocephaly	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0000269	Prominent occiput	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0005108	Abnormal intervertebral disk morphology	HP:0040281	ORPHA:2311
134701	RIPPLY2	HP:0002827	Hip dislocation	3/7	OMIM:615777
134701	RIPPLY2	HP:0002808	Kyphosis	HP:0040282	ORPHA:2311
134701	RIPPLY2	HP:0000252	Microcephaly	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0000252	Microcephaly	-	OMIM:615777
134701	RIPPLY2	HP:0002857	Genu valgum	-	OMIM:131300
134701	RIPPLY2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0001533	Slender build	-	OMIM:131300
134701	RIPPLY2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2311
134701	RIPPLY2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
134701	RIPPLY2	HP:0007807	Optic nerve compression	-	OMIM:131300
134701	RIPPLY2	HP:0012368	Flat face	7/7	OMIM:615777
134701	RIPPLY2	HP:0002937	Hemivertebrae	2/2	OMIM:616566
134701	RIPPLY2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
134701	RIPPLY2	HP:0002947	Cervical kyphosis	1/2	OMIM:616566
134701	RIPPLY2	HP:0000365	Hearing impairment	10/67	OMIM:131300
134701	RIPPLY2	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0000343	Long philtrum	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0000343	Long philtrum	1/7	OMIM:615777
134701	RIPPLY2	HP:0011001	Increased bone mineral density	-	OMIM:131300
134701	RIPPLY2	HP:0000337	Broad forehead	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0000311	Round face	2/7	OMIM:615777
134701	RIPPLY2	HP:0002970	Genu varum	-	OMIM:615777
134701	RIPPLY2	HP:0000303	Mandibular prognathia	-	OMIM:131300
134701	RIPPLY2	HP:0006655	Rib segmentation abnormalities	HP:0040281	ORPHA:2311
134701	RIPPLY2	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
134701	RIPPLY2	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2311
134701	RIPPLY2	HP:0000470	Short neck	HP:0040281	ORPHA:2311
134701	RIPPLY2	HP:0000470	Short neck	1/7	OMIM:615777
134701	RIPPLY2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
134701	RIPPLY2	HP:0001763	Pes planus	1/7	OMIM:615777
134701	RIPPLY2	HP:0001840	Metatarsus adductus	-	OMIM:615777
134701	RIPPLY2	HP:0000520	Proptosis	2/4	OMIM:131300
134701	RIPPLY2	HP:0000520	Proptosis	7/7	OMIM:615777
134701	RIPPLY2	HP:0000592	Blue sclerae	2/7	OMIM:615777
134701	RIPPLY2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
134701	RIPPLY2	HP:0012514	Lower limb pain	4/4	OMIM:131300
135228	CD109	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040284	ORPHA:853
135228	CD109	HP:0001263	Global developmental delay	HP:0040284	ORPHA:853
135228	CD109	HP:0007420	Spontaneous hematomas	HP:0040282	ORPHA:853
135228	CD109	HP:0002138	Subarachnoid hemorrhage	HP:0040284	ORPHA:853
135228	CD109	HP:0002170	Intracranial hemorrhage	HP:0040283	ORPHA:853
135228	CD109	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:853
135228	CD109	HP:0002249	Melena	HP:0040283	ORPHA:853
135228	CD109	HP:0004809	Neonatal alloimmune thrombocytopenia	HP:0040280	ORPHA:853
135228	CD109	HP:0000618	Blindness	HP:0040284	ORPHA:853
135228	CD109	HP:0100021	Cerebral palsy	HP:0040284	ORPHA:853
135228	CD109	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:853
135228	CD109	HP:0000790	Hematuria	HP:0040283	ORPHA:853
135228	CD109	HP:0000979	Purpura	HP:0040282	ORPHA:853
135228	CD109	HP:0000967	Petechiae	HP:0040282	ORPHA:853
135228	CD109	HP:0031364	Ecchymosis	HP:0040283	ORPHA:853
135228	CD109	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:853
135228	CD109	HP:0012541	Cephalohematoma	HP:0040282	ORPHA:853
135886	TMEM270	HP:0001181	Adducted thumb	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:904
135886	TMEM270	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001297	Stroke	HP:0040282	ORPHA:904
135886	TMEM270	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:904
135886	TMEM270	HP:0001288	Gait disturbance	HP:0040281	ORPHA:904
135886	TMEM270	HP:0001252	Hypotonia	HP:0040282	ORPHA:904
135886	TMEM270	HP:0001251	Ataxia	HP:0040281	ORPHA:904
135886	TMEM270	HP:0001249	Intellectual disability	HP:0040281	ORPHA:904
135886	TMEM270	HP:0001260	Dysarthria	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001257	Spasticity	HP:0040282	ORPHA:904
135886	TMEM270	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:904
135886	TMEM270	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:904
135886	TMEM270	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:904
135886	TMEM270	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040283	ORPHA:904
135886	TMEM270	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000093	Proteinuria	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000075	Renal duplication	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001387	Joint stiffness	HP:0040282	ORPHA:904
135886	TMEM270	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000014	Abnormality of the bladder	HP:0040282	ORPHA:904
135886	TMEM270	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:904
135886	TMEM270	HP:0001361	Nystagmus-induced head nodding	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000025	Functional abnormality of male internal genitalia	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:904
135886	TMEM270	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:904
135886	TMEM270	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001337	Tremor	HP:0040281	ORPHA:904
135886	TMEM270	HP:0001310	Dysmetria	HP:0040281	ORPHA:904
135886	TMEM270	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:904
135886	TMEM270	HP:0002650	Scoliosis	HP:0040283	ORPHA:904
135886	TMEM270	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:904
135886	TMEM270	HP:0002623	Overriding aorta	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:904
135886	TMEM270	HP:0000158	Macroglossia	HP:0040281	ORPHA:904
135886	TMEM270	HP:0000154	Wide mouth	HP:0040281	ORPHA:904
135886	TMEM270	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000125	Pelvic kidney	HP:0040282	ORPHA:904
135886	TMEM270	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:904
135886	TMEM270	HP:0002024	Malabsorption	HP:0040283	ORPHA:904
135886	TMEM270	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:904
135886	TMEM270	HP:0002019	Constipation	HP:0040282	ORPHA:904
135886	TMEM270	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:904
135886	TMEM270	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:904
135886	TMEM270	HP:0002027	Abdominal pain	HP:0040281	ORPHA:904
135886	TMEM270	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:904
135886	TMEM270	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:904
135886	TMEM270	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:904
135886	TMEM270	HP:0100539	Periorbital edema	HP:0040281	ORPHA:904
135886	TMEM270	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:904
135886	TMEM270	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:904
135886	TMEM270	HP:0002141	Gait imbalance	HP:0040281	ORPHA:904
135886	TMEM270	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:904
135886	TMEM270	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:904
135886	TMEM270	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:904
135886	TMEM270	HP:0002183	Phonophobia	HP:0040281	ORPHA:904
135886	TMEM270	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:904
135886	TMEM270	HP:0010526	Dysgraphia	HP:0040281	ORPHA:904
135886	TMEM270	HP:0002253	Colonic diverticula	HP:0040282	ORPHA:904
135886	TMEM270	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:904
135886	TMEM270	HP:0100785	Insomnia	HP:0040282	ORPHA:904
135886	TMEM270	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:904
135886	TMEM270	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:904
135886	TMEM270	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:904
135886	TMEM270	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:904
135886	TMEM270	HP:0002376	Developmental regression	HP:0040283	ORPHA:904
135886	TMEM270	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:904
135886	TMEM270	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:904
135886	TMEM270	HP:0010807	Open bite	HP:0040281	ORPHA:904
135886	TMEM270	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:904
135886	TMEM270	HP:0008499	High hypermetropia	HP:0040281	ORPHA:904
135886	TMEM270	HP:0010780	Hyperacusis	HP:0040281	ORPHA:904
135886	TMEM270	HP:0002308	Chiari malformation	HP:0040283	ORPHA:904
135886	TMEM270	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:904
135886	TMEM270	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:904
135886	TMEM270	HP:0004295	Abnormal gastric mucosa morphology	HP:0040283	ORPHA:904
135886	TMEM270	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000635	Blue irides	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000691	Microdontia	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000670	Carious teeth	HP:0040283	ORPHA:904
135886	TMEM270	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:904
135886	TMEM270	HP:0000668	Hypodontia	HP:0040282	ORPHA:904
135886	TMEM270	HP:0004322	Short stature	HP:0040281	ORPHA:904
135886	TMEM270	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:904
135886	TMEM270	HP:0004305	Involuntary movements	HP:0040281	ORPHA:904
135886	TMEM270	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:904
135886	TMEM270	HP:0004381	Supravalvular aortic stenosis	HP:0040282	ORPHA:904
135886	TMEM270	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:904
135886	TMEM270	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:904
135886	TMEM270	HP:0100025	Overfriendliness	HP:0040281	ORPHA:904
135886	TMEM270	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000739	Anxiety	HP:0040281	ORPHA:904
135886	TMEM270	HP:0000716	Depression	HP:0040281	ORPHA:904
135886	TMEM270	HP:0000717	Autism	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:904
135886	TMEM270	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:904
135886	TMEM270	HP:0004428	Elfin facies	HP:0040281	ORPHA:904
135886	TMEM270	HP:0003198	Myopathy	HP:0040283	ORPHA:904
135886	TMEM270	HP:0003196	Short nose	HP:0040281	ORPHA:904
135886	TMEM270	HP:0000826	Precocious puberty	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000822	Hypertension	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:904
135886	TMEM270	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:904
135886	TMEM270	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000960	Sacral dimple	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000939	Osteoporosis	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000938	Osteopenia	HP:0040283	ORPHA:904
135886	TMEM270	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:904
135886	TMEM270	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:904
135886	TMEM270	HP:0007720	Flat cornea	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000286	Epicanthus	HP:0040281	ORPHA:904
135886	TMEM270	HP:0000280	Coarse facial features	HP:0040281	ORPHA:904
135886	TMEM270	HP:0000275	Narrow face	HP:0040281	ORPHA:904
135886	TMEM270	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:904
135886	TMEM270	HP:0002829	Arthralgia	HP:0040282	ORPHA:904
135886	TMEM270	HP:0002808	Kyphosis	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000252	Microcephaly	HP:0040282	ORPHA:904
135886	TMEM270	HP:0001582	Redundant skin	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:904
135886	TMEM270	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:904
135886	TMEM270	HP:0002857	Genu valgum	HP:0040282	ORPHA:904
135886	TMEM270	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001513	Obesity	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:904
135886	TMEM270	HP:0001609	Hoarse voice	HP:0040281	ORPHA:904
135886	TMEM270	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:904
135886	TMEM270	HP:0001618	Dysphonia	HP:0040283	ORPHA:904
135886	TMEM270	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:904
135886	TMEM270	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000343	Long philtrum	HP:0040281	ORPHA:904
135886	TMEM270	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000337	Broad forehead	HP:0040281	ORPHA:904
135886	TMEM270	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000348	High forehead	HP:0040281	ORPHA:904
135886	TMEM270	HP:0000347	Micrognathia	HP:0040281	ORPHA:904
135886	TMEM270	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:904
135886	TMEM270	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:904
135886	TMEM270	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:904
135886	TMEM270	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:904
135886	TMEM270	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000307	Pointed chin	HP:0040281	ORPHA:904
135886	TMEM270	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:904
135886	TMEM270	HP:0007957	Corneal opacity	HP:0040283	ORPHA:904
135886	TMEM270	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000400	Macrotia	HP:0040281	ORPHA:904
135886	TMEM270	HP:0000486	Strabismus	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000485	Megalocornea	HP:0040283	ORPHA:904
135886	TMEM270	HP:0000464	Abnormality of the neck	HP:0040281	ORPHA:904
135886	TMEM270	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:904
135886	TMEM270	HP:0001763	Pes planus	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000411	Protruding ear	HP:0040281	ORPHA:904
135886	TMEM270	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:904
135886	TMEM270	HP:0000518	Cataract	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001822	Hallux valgus	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000505	Visual impairment	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000501	Glaucoma	HP:0040283	ORPHA:904
135886	TMEM270	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:904
135886	TMEM270	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:904
135886	TMEM270	HP:0000545	Myopia	HP:0040283	ORPHA:904
135935	NOBOX	HP:0008724	Hypoplasia of the ovary	5/12	OMIM:611548
135935	NOBOX	HP:0000006	Autosomal dominant inheritance	-	OMIM:611548
135935	NOBOX	HP:0010464	Streak ovary	1/12	OMIM:611548
135935	NOBOX	HP:0008209	Premature ovarian insufficiency	1/1	OMIM:611548
135935	NOBOX	HP:0000786	Primary amenorrhea	3/12	OMIM:611548
135935	NOBOX	HP:0000869	Secondary amenorrhea	9/12	OMIM:611548
135935	NOBOX	HP:0033085	Reduced antral follicle count	-	OMIM:611548
136371	ASB10	HP:0000006	Autosomal dominant inheritance	-	OMIM:603383
136371	ASB10	HP:0012108	Open angle glaucoma	-	OMIM:603383
136371	ASB10	HP:0012796	Increased cup-to-disc ratio	-	OMIM:603383
136371	ASB10	HP:0007854	Glaucomatous visual field defect	-	OMIM:603383
136371	ASB10	HP:0007906	Ocular hypertension	-	OMIM:603383
136647	MPLKIP	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001197	Abnormality of prenatal development or birth	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0410219	Hypoplasia of mandible relative to maxilla	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0007266	Cerebral dysmyelination	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0009886	Trichorrhexis nodosa	1/1	OMIM:234050
136647	MPLKIP	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001276	Hypertonia	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001249	Intellectual disability	1/1	OMIM:234050
136647	MPLKIP	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001260	Dysarthria	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001263	Global developmental delay	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001263	Global developmental delay	20/20	OMIM:234050
136647	MPLKIP	HP:0001257	Spasticity	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0002562	Low-set nipples	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0007381	Congenital exfoliative erythroderma	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001217	Clubbing	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001373	Joint dislocation	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0007485	Absence of subcutaneous fat	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001338	Partial agenesis of the corpus callosum	HP:0040283	OMIM:234050
136647	MPLKIP	HP:0001338	Partial agenesis of the corpus callosum	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000007	Autosomal recessive inheritance	-	OMIM:234050
136647	MPLKIP	HP:0000144	Decreased fertility	-	OMIM:234050
136647	MPLKIP	HP:0007633	Bilateral microphthalmos	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0002705	High, narrow palate	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0007587	Numerous pigmented freckles	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000133	Gonadal dysgenesis	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0002719	Recurrent infections	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0002080	Intention tremor	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0002066	Gait ataxia	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0002120	Cerebral cortical atrophy	HP:0040283	OMIM:234050
136647	MPLKIP	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0002197	Generalized-onset seizure	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0002164	Nail dysplasia	-	OMIM:234050
136647	MPLKIP	HP:0010551	Paraplegia/paraparesis	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0002224	Woolly hair	-	OMIM:234050
136647	MPLKIP	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0010719	Abnormality of hair texture	-	OMIM:234050
136647	MPLKIP	HP:0008404	Nail dystrophy	1/1	OMIM:234050
136647	MPLKIP	HP:0002299	Brittle hair	1/1	OMIM:234050
136647	MPLKIP	HP:0002299	Brittle hair	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0002293	Alopecia of scalp	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0007034	Generalized hyperreflexia	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0008391	Dystrophic fingernails	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0008386	Aplasia/Hypoplasia of the nails	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	OMIM:234050
136647	MPLKIP	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0006829	Severe muscular hypotonia	HP:0040283	OMIM:234050
136647	MPLKIP	HP:4000007	Bronchoconstriction	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000639	Nystagmus	HP:0040283	OMIM:234050
136647	MPLKIP	HP:0000639	Nystagmus	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000648	Optic atrophy	HP:0040283	OMIM:234050
136647	MPLKIP	HP:0000613	Photophobia	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000608	Macular degeneration	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000601	Hypotelorism	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001903	Anemia	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000685	Hypoplasia of teeth	HP:0040283	OMIM:234050
136647	MPLKIP	HP:0000656	Ectropion	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000653	Sparse eyelashes	-	OMIM:234050
136647	MPLKIP	HP:0000670	Carious teeth	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0003079	Defective DNA repair after ultraviolet radiation damage	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0003196	Short nose	HP:0040283	OMIM:234050
136647	MPLKIP	HP:0003139	Panhypogammaglobulinemia	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0045055	Tiger tail banding	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0100275	Diffuse cerebellar atrophy	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000958	Dry skin	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000938	Osteopenia	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0008070	Sparse hair	-	OMIM:234050
136647	MPLKIP	HP:0008064	Ichthyosis	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000286	Epicanthus	HP:0040283	OMIM:234050
136647	MPLKIP	HP:0000286	Epicanthus	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000280	Coarse facial features	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000278	Retrognathia	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000278	Retrognathia	HP:0040283	OMIM:234050
136647	MPLKIP	HP:0025548	Increased mean corpuscular hemoglobin concentration	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001598	Concave nail	-	OMIM:234050
136647	MPLKIP	HP:0001598	Concave nail	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000252	Microcephaly	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000252	Microcephaly	-	OMIM:234050
136647	MPLKIP	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001510	Growth delay	1/1	OMIM:234050
136647	MPLKIP	HP:0006538	Recurrent bronchopulmonary infections	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001618	Dysphonia	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0002942	Thoracic kyphosis	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000320	Bird-like facies	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001629	Ventricular septal defect	HP:0040283	OMIM:234050
136647	MPLKIP	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000400	Macrotia	-	OMIM:234050
136647	MPLKIP	HP:0000483	Astigmatism	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000486	Strabismus	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000482	Microcornea	HP:0040283	OMIM:234050
136647	MPLKIP	HP:0000482	Microcornea	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001792	Small nail	-	OMIM:234050
136647	MPLKIP	HP:0000463	Anteverted nares	HP:0040283	OMIM:234050
136647	MPLKIP	HP:0000411	Protruding ear	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000519	Developmental cataract	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001809	Split nail	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001808	Fragile nails	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001807	Ridged nail	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000568	Microphthalmia	HP:0040283	OMIM:234050
136647	MPLKIP	HP:0000565	Esotropia	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000546	Retinal degeneration	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0000545	Myopia	HP:0040283	ORPHA:33364
136647	MPLKIP	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33364
137392	CIBAR1	HP:0001162	Postaxial hand polydactyly	3/3	OMIM:618219
137392	CIBAR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618219
137392	CIBAR1	HP:0001830	Postaxial foot polydactyly	1/3	OMIM:618219
137492	VPS37A	HP:0002495	Impaired vibratory sensation	HP:0040283	ORPHA:319199
137492	VPS37A	HP:0002495	Impaired vibratory sensation	2/9	OMIM:614898
137492	VPS37A	HP:0002451	Limb dystonia	HP:0040283	ORPHA:319199
137492	VPS37A	HP:0001288	Gait disturbance	-	OMIM:614898
137492	VPS37A	HP:0001263	Global developmental delay	-	OMIM:614898
137492	VPS37A	HP:0001258	Spastic paraplegia	-	OMIM:614898
137492	VPS37A	HP:0007350	Upper limb hyperreflexia	HP:0040281	ORPHA:319199
137492	VPS37A	HP:0002539	Cortical dysplasia	HP:0040284	ORPHA:319199
137492	VPS37A	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:319199
137492	VPS37A	HP:0001382	Joint hypermobility	8/8	OMIM:614898
137492	VPS37A	HP:0001347	Hyperreflexia	9/9	OMIM:614898
137492	VPS37A	HP:0001332	Dystonia	2/9	OMIM:614898
137492	VPS37A	HP:0000007	Autosomal recessive inheritance	-	OMIM:614898
137492	VPS37A	HP:0100543	Cognitive impairment	-	OMIM:614898
137492	VPS37A	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:319199
137492	VPS37A	HP:0002169	Clonus	HP:0040281	ORPHA:319199
137492	VPS37A	HP:0002169	Clonus	6/9	OMIM:614898
137492	VPS37A	HP:0003593	Infantile onset	6/9	OMIM:614898
137492	VPS37A	HP:0010831	Impaired proprioception	HP:0040284	ORPHA:319199
137492	VPS37A	HP:0200049	Upper limb hypertonia	HP:0040282	ORPHA:319199
137492	VPS37A	HP:0200049	Upper limb hypertonia	6/9	OMIM:614898
137492	VPS37A	HP:0006895	Lower limb hypertonia	9/9	OMIM:614898
137492	VPS37A	HP:0000768	Pectus carinatum	HP:0040282	ORPHA:319199
137492	VPS37A	HP:0000768	Pectus carinatum	7/9	OMIM:614898
137492	VPS37A	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:319199
137492	VPS37A	HP:0000750	Delayed speech and language development	6/9	OMIM:614898
137492	VPS37A	HP:0011463	Childhood onset	3/9	OMIM:614898
137492	VPS37A	HP:0000998	Hypertrichosis	3/9	OMIM:614898
137492	VPS37A	HP:0002808	Kyphosis	HP:0040282	ORPHA:319199
137492	VPS37A	HP:0002808	Kyphosis	9/9	OMIM:614898
137492	VPS37A	HP:0000252	Microcephaly	HP:0040284	ORPHA:319199
137492	VPS37A	HP:0001508	Failure to thrive	HP:0040284	ORPHA:319199
137492	VPS37A	HP:0000365	Hearing impairment	HP:0040283	ORPHA:319199
137492	VPS37A	HP:0000372	Abnormal auditory canal morphology	HP:0040284	ORPHA:319199
137682	NDUFAF6	HP:0003774	Stage 5 chronic kidney disease	11/12	OMIM:618913
137682	NDUFAF6	HP:0003774	Stage 5 chronic kidney disease	HP:0040283	ORPHA:3337
137682	NDUFAF6	HP:0007325	Generalized dystonia	3/3	OMIM:618239
137682	NDUFAF6	HP:0001288	Gait disturbance	-	OMIM:618239
137682	NDUFAF6	HP:0001250	Seizure	0/3	OMIM:618239
137682	NDUFAF6	HP:0001252	Hypotonia	-	OMIM:618239
137682	NDUFAF6	HP:0001251	Ataxia	3/5	OMIM:618239
137682	NDUFAF6	HP:0001260	Dysarthria	4/4	OMIM:618239
137682	NDUFAF6	HP:0001263	Global developmental delay	-	OMIM:618239
137682	NDUFAF6	HP:0100874	Thick hair	1/1	OMIM:618239
137682	NDUFAF6	HP:0000093	Proteinuria	-	OMIM:618913
137682	NDUFAF6	HP:0001332	Dystonia	1/1	OMIM:618239
137682	NDUFAF6	HP:0002659	Increased susceptibility to fractures	HP:0040282	ORPHA:3337
137682	NDUFAF6	HP:0001324	Muscle weakness	2/2	OMIM:618239
137682	NDUFAF6	HP:0001324	Muscle weakness	HP:0040282	ORPHA:3337
137682	NDUFAF6	HP:0000007	Autosomal recessive inheritance	-	OMIM:618239
137682	NDUFAF6	HP:0000007	Autosomal recessive inheritance	-	OMIM:618913
137682	NDUFAF6	HP:0002653	Bone pain	HP:0040282	ORPHA:3337
137682	NDUFAF6	HP:0002650	Scoliosis	1/1	OMIM:618239
137682	NDUFAF6	HP:0012128	Basal ganglia necrosis	3/3	OMIM:618239
137682	NDUFAF6	HP:0002705	High, narrow palate	1/1	OMIM:618239
137682	NDUFAF6	HP:0000117	Renal phosphate wasting	HP:0040281	ORPHA:3337
137682	NDUFAF6	HP:0002749	Osteomalacia	HP:0040282	ORPHA:3337
137682	NDUFAF6	HP:0003355	Aminoaciduria	-	OMIM:618913
137682	NDUFAF6	HP:0002097	Emphysema	3/12	OMIM:618913
137682	NDUFAF6	HP:0002063	Rigidity	2/2	OMIM:618239
137682	NDUFAF6	HP:0002049	Proximal renal tubular acidosis	HP:0040281	ORPHA:3337
137682	NDUFAF6	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:618239
137682	NDUFAF6	HP:0002150	Hypercalciuria	HP:0040283	ORPHA:3337
137682	NDUFAF6	HP:0002148	Hypophosphatemia	-	OMIM:618913
137682	NDUFAF6	HP:0002148	Hypophosphatemia	HP:0040282	ORPHA:3337
137682	NDUFAF6	HP:0011923	Decreased activity of mitochondrial complex I	6/6	OMIM:618239
137682	NDUFAF6	HP:0003593	Infantile onset	2/2	OMIM:618239
137682	NDUFAF6	HP:0003537	Hypouricemia	HP:0040282	ORPHA:3337
137682	NDUFAF6	HP:0002206	Pulmonary fibrosis	-	OMIM:618913
137682	NDUFAF6	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:3337
137682	NDUFAF6	HP:0002376	Developmental regression	4/4	OMIM:618239
137682	NDUFAF6	HP:0003646	Bicarbonaturia	HP:0040281	ORPHA:3337
137682	NDUFAF6	HP:0003621	Juvenile onset	-	OMIM:618913
137682	NDUFAF6	HP:0004918	Hyperchloremic metabolic acidosis	-	OMIM:618913
137682	NDUFAF6	HP:0004918	Hyperchloremic metabolic acidosis	HP:0040281	ORPHA:3337
137682	NDUFAF6	HP:0004912	Hypophosphatemic rickets	19/19	OMIM:618913
137682	NDUFAF6	HP:0004912	Hypophosphatemic rickets	HP:0040282	ORPHA:3337
137682	NDUFAF6	HP:0004910	Bicarbonate-wasting renal tubular acidosis	HP:0040281	ORPHA:3337
137682	NDUFAF6	HP:0005576	Tubulointerstitial fibrosis	4/4	OMIM:618913
137682	NDUFAF6	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:3337
137682	NDUFAF6	HP:0012606	Renal sodium wasting	HP:0040282	ORPHA:3337
137682	NDUFAF6	HP:0001944	Dehydration	HP:0040283	ORPHA:3337
137682	NDUFAF6	HP:0001943	Hypoglycemia	HP:0040284	ORPHA:3337
137682	NDUFAF6	HP:0003076	Glycosuria	-	OMIM:618913
137682	NDUFAF6	HP:0003076	Glycosuria	HP:0040281	ORPHA:3337
137682	NDUFAF6	HP:0003081	Increased urinary potassium	HP:0040282	ORPHA:3337
137682	NDUFAF6	HP:0012706	Elevated brain choline level by MRS	1/1	OMIM:618239
137682	NDUFAF6	HP:0012707	Elevated brain lactate level by MRS	1/1	OMIM:618239
137682	NDUFAF6	HP:0011463	Childhood onset	4/4	OMIM:618239
137682	NDUFAF6	HP:0003126	Low-molecular-weight proteinuria	HP:0040281	ORPHA:3337
137682	NDUFAF6	HP:0003149	Hyperuricosuria	HP:0040281	ORPHA:3337
137682	NDUFAF6	HP:0003128	Lactic acidosis	2/2	OMIM:618239
137682	NDUFAF6	HP:0000822	Hypertension	7/19	OMIM:618913
137682	NDUFAF6	HP:0003234	Decreased circulating carnitine concentration	HP:0040282	ORPHA:3337
137682	NDUFAF6	HP:0003202	Skeletal muscle atrophy	-	OMIM:618239
137682	NDUFAF6	HP:0045051	Decreased DLCO	-	OMIM:618913
137682	NDUFAF6	HP:0030078	Lung adenocarcinoma	1/12	OMIM:618913
137682	NDUFAF6	HP:0002857	Genu valgum	12/12	OMIM:618913
137682	NDUFAF6	HP:0001510	Growth delay	HP:0040281	ORPHA:3337
137682	NDUFAF6	HP:0002909	Generalized aminoaciduria	HP:0040281	ORPHA:3337
137682	NDUFAF6	HP:0002900	Hypokalemia	HP:0040282	ORPHA:3337
137682	NDUFAF6	HP:0032943	Abnormal urine pH	HP:0040281	ORPHA:3337
137682	NDUFAF6	HP:0011153	Focal motor seizure	2/2	OMIM:618239
137682	NDUFAF6	HP:0001763	Pes planus	1/1	OMIM:618239
137682	NDUFAF6	HP:0001824	Weight loss	HP:0040282	ORPHA:3337
137814	NKX2-6	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3303
137814	NKX2-6	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:3303
137814	NKX2-6	HP:0001279	Syncope	HP:0040282	ORPHA:334
137814	NKX2-6	HP:0031014	Arteria lusoria	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0012020	Right aortic arch	HP:0040282	ORPHA:3384
137814	NKX2-6	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3303
137814	NKX2-6	HP:0000007	Autosomal recessive inheritance	-	OMIM:217095
137814	NKX2-6	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
137814	NKX2-6	HP:0002789	Tachypnea	HP:0040282	ORPHA:3384
137814	NKX2-6	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
137814	NKX2-6	HP:0100598	Pulmonary edema	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
137814	NKX2-6	HP:0100749	Chest pain	HP:0040282	ORPHA:334
137814	NKX2-6	HP:0002321	Vertigo	HP:0040282	ORPHA:334
137814	NKX2-6	HP:0004971	Pulmonary artery hypoplasia	HP:0040284	ORPHA:3384
137814	NKX2-6	HP:0004935	Pulmonary artery atresia	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
137814	NKX2-6	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:3303
137814	NKX2-6	HP:0001962	Palpitations	HP:0040282	ORPHA:334
137814	NKX2-6	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:217095
137814	NKX2-6	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
137814	NKX2-6	HP:0010055	Broad hallux	-	OMIM:217095
137814	NKX2-6	HP:0001999	Abnormal facial shape	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0000778	Hypoplasia of the thymus	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0004415	Pulmonary artery stenosis	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0004467	Preauricular pit	HP:0040282	ORPHA:3303
137814	NKX2-6	HP:0004467	Preauricular pit	-	OMIM:187500
137814	NKX2-6	HP:0000849	Adrenocortical abnormality	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0045060	Aplasia/hypoplasia involving bones of the extremities	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0011660	Anomalous origin of one pulmonary artery from ascending aorta	HP:0040282	ORPHA:3384
137814	NKX2-6	HP:0100259	Postaxial polydactyly	-	OMIM:217095
137814	NKX2-6	HP:0011640	Single coronary artery origin	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0011611	Interrupted aortic arch	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0000961	Cyanosis	HP:0040281	ORPHA:3384
137814	NKX2-6	HP:0025575	Abnormal superior vena cava morphology	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:3303
137814	NKX2-6	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
137814	NKX2-6	HP:0005105	Abnormal nasal morphology	HP:0040281	ORPHA:3303
137814	NKX2-6	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:3303
137814	NKX2-6	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:3384
137814	NKX2-6	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3303
137814	NKX2-6	HP:0012378	Fatigue	HP:0040282	ORPHA:334
137814	NKX2-6	HP:0001674	Complete atrioventricular canal defect	-	OMIM:217095
137814	NKX2-6	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:3384
137814	NKX2-6	HP:0001669	Transposition of the great arteries	-	OMIM:217095
137814	NKX2-6	HP:0000337	Broad forehead	-	OMIM:187500
137814	NKX2-6	HP:0000337	Broad forehead	HP:0040281	ORPHA:3303
137814	NKX2-6	HP:0001667	Right ventricular hypertrophy	HP:0040282	ORPHA:3384
137814	NKX2-6	HP:0001680	Coarctation of aorta	-	OMIM:217095
137814	NKX2-6	HP:0000316	Hypertelorism	HP:0040283	OMIM:217095
137814	NKX2-6	HP:0001649	Tachycardia	HP:0040281	ORPHA:3384
137814	NKX2-6	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0001660	Truncus arteriosus	HP:0040280	ORPHA:3384
137814	NKX2-6	HP:0001660	Truncus arteriosus	-	OMIM:217095
137814	NKX2-6	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
137814	NKX2-6	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:3384
137814	NKX2-6	HP:0001654	Abnormal heart valve morphology	HP:0040281	ORPHA:3384
137814	NKX2-6	HP:0001629	Ventricular septal defect	HP:0040282	ORPHA:3384
137814	NKX2-6	HP:0001627	Abnormal heart morphology	HP:0040281	ORPHA:3384
137814	NKX2-6	HP:0001640	Cardiomegaly	HP:0040282	ORPHA:3384
137814	NKX2-6	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:3303
137814	NKX2-6	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
137814	NKX2-6	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0005301	Persistent left superior vena cava	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0031635	Anomalous origin of the left common carotid artery from the brachiocephalic artery	HP:0040284	ORPHA:3384
137814	NKX2-6	HP:0031653	Abnormal heart valve physiology	HP:0040281	ORPHA:3384
137814	NKX2-6	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
137814	NKX2-6	HP:0001719	Double outlet right ventricle	-	OMIM:217095
137814	NKX2-6	HP:0006704	Abnormal coronary artery morphology	HP:0040283	ORPHA:3384
137814	NKX2-6	HP:0000520	Proptosis	-	OMIM:187500
137814	NKX2-6	HP:0000520	Proptosis	HP:0040282	ORPHA:3303
138050	HGSNAT	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
138050	HGSNAT	HP:0001133	Constriction of peripheral visual field	-	OMIM:616544
138050	HGSNAT	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
138050	HGSNAT	HP:0001105	Retinal atrophy	6/6	OMIM:616544
138050	HGSNAT	HP:0001123	Visual field defect	1/6	OMIM:616544
138050	HGSNAT	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
138050	HGSNAT	HP:0001293	Cranial nerve compression	-	OMIM:131300
138050	HGSNAT	HP:0001270	Motor delay	-	OMIM:252930
138050	HGSNAT	HP:0001250	Seizure	2/11	OMIM:252930
138050	HGSNAT	HP:0001252	Hypotonia	2/7	OMIM:615777
138050	HGSNAT	HP:0001249	Intellectual disability	7/11	OMIM:252930
138050	HGSNAT	HP:0001249	Intellectual disability	5/7	OMIM:615777
138050	HGSNAT	HP:0001263	Global developmental delay	3/11	OMIM:252930
138050	HGSNAT	HP:0001263	Global developmental delay	-	OMIM:615777
138050	HGSNAT	HP:0002515	Waddling gait	54/102	OMIM:131300
138050	HGSNAT	HP:0001387	Joint stiffness	2/11	OMIM:252930
138050	HGSNAT	HP:0001382	Joint hypermobility	-	OMIM:615777
138050	HGSNAT	HP:0002694	Sclerosis of skull base	-	OMIM:131300
138050	HGSNAT	HP:0008897	Postnatal growth retardation	-	OMIM:615777
138050	HGSNAT	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
138050	HGSNAT	HP:0001324	Muscle weakness	40/96	OMIM:131300
138050	HGSNAT	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
138050	HGSNAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:252930
138050	HGSNAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:616544
138050	HGSNAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
138050	HGSNAT	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
138050	HGSNAT	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
138050	HGSNAT	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
138050	HGSNAT	HP:0002650	Scoliosis	12/14	OMIM:131300
138050	HGSNAT	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
138050	HGSNAT	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
138050	HGSNAT	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
138050	HGSNAT	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
138050	HGSNAT	HP:0000175	Cleft palate	2/7	OMIM:615777
138050	HGSNAT	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
138050	HGSNAT	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
138050	HGSNAT	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
138050	HGSNAT	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
138050	HGSNAT	HP:0007663	Reduced visual acuity	2/6	OMIM:616544
138050	HGSNAT	HP:0500087	Peripapillary atrophy	1/6	OMIM:616544
138050	HGSNAT	HP:0002788	Recurrent upper respiratory tract infections	-	OMIM:252930
138050	HGSNAT	HP:0002751	Kyphoscoliosis	2/11	OMIM:252930
138050	HGSNAT	HP:0002014	Diarrhea	-	OMIM:252930
138050	HGSNAT	HP:0002015	Dysphagia	4/11	OMIM:252930
138050	HGSNAT	HP:0003309	Ovoid thoracolumbar vertebrae	-	OMIM:252930
138050	HGSNAT	HP:0003388	Easy fatigability	36/76	OMIM:131300
138050	HGSNAT	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
138050	HGSNAT	HP:0002159	Heparan sulfate excretion in urine	-	OMIM:252930
138050	HGSNAT	HP:0003596	Middle age onset	3/6	OMIM:616544
138050	HGSNAT	HP:0002240	Hepatomegaly	1/11	OMIM:252930
138050	HGSNAT	HP:0002208	Coarse hair	-	OMIM:252930
138050	HGSNAT	HP:0100790	Hernia	-	OMIM:252930
138050	HGSNAT	HP:0003510	Severe short stature	7/7	OMIM:615777
138050	HGSNAT	HP:0002360	Sleep abnormality	2/11	OMIM:252930
138050	HGSNAT	HP:0002371	Loss of speech	4/11	OMIM:252930
138050	HGSNAT	HP:0001007	Hirsutism	1/11	OMIM:252930
138050	HGSNAT	HP:0003653	Cellular metachromasia	-	OMIM:252930
138050	HGSNAT	HP:0002315	Headache	-	OMIM:131300
138050	HGSNAT	HP:0004976	Knee dislocation	6/7	OMIM:615777
138050	HGSNAT	HP:0002333	Motor deterioration	12/21	OMIM:252930
138050	HGSNAT	HP:0009803	Short phalanx of finger	-	OMIM:615777
138050	HGSNAT	HP:0009763	Limb pain	63/92	OMIM:131300
138050	HGSNAT	HP:0003621	Juvenile onset	8/19	OMIM:180100
138050	HGSNAT	HP:0003621	Juvenile onset	2/8	OMIM:252930
138050	HGSNAT	HP:0003621	Juvenile onset	-	OMIM:131300
138050	HGSNAT	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
138050	HGSNAT	HP:0030501	Macular crystals	2/6	OMIM:616544
138050	HGSNAT	HP:0030529	Ring scotoma	4/6	OMIM:616544
138050	HGSNAT	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
138050	HGSNAT	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
138050	HGSNAT	HP:6001056	Out-toeing	-	OMIM:131300
138050	HGSNAT	HP:0000651	Diplopia	-	OMIM:131300
138050	HGSNAT	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
138050	HGSNAT	HP:0000618	Blindness	HP:0040281	ORPHA:791
138050	HGSNAT	HP:0000613	Photophobia	HP:0040281	ORPHA:791
138050	HGSNAT	HP:0001956	Truncal obesity	2/7	OMIM:615777
138050	HGSNAT	HP:0000622	Blurred vision	1/6	OMIM:616544
138050	HGSNAT	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
138050	HGSNAT	HP:0000603	Central scotoma	1/6	OMIM:616544
138050	HGSNAT	HP:0001903	Anemia	HP:0040283	OMIM:131300
138050	HGSNAT	HP:0010049	Short metacarpal	-	OMIM:615777
138050	HGSNAT	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
138050	HGSNAT	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
138050	HGSNAT	HP:0000678	Dental crowding	-	OMIM:615777
138050	HGSNAT	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
138050	HGSNAT	HP:0000662	Nyctalopia	26/28	OMIM:180100
138050	HGSNAT	HP:0000662	Nyctalopia	5/6	OMIM:616544
138050	HGSNAT	HP:0000670	Carious teeth	-	OMIM:131300
138050	HGSNAT	HP:0011304	Broad thumb	2/7	OMIM:615777
138050	HGSNAT	HP:0000668	Hypodontia	-	OMIM:615777
138050	HGSNAT	HP:0000664	Synophrys	-	OMIM:615777
138050	HGSNAT	HP:0000664	Synophrys	1/11	OMIM:252930
138050	HGSNAT	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
138050	HGSNAT	HP:0004396	Poor appetite	-	OMIM:131300
138050	HGSNAT	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
138050	HGSNAT	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
138050	HGSNAT	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
138050	HGSNAT	HP:0003026	Short long bone	7/7	OMIM:615777
138050	HGSNAT	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
138050	HGSNAT	HP:0100014	Epiretinal membrane	1/6	OMIM:616544
138050	HGSNAT	HP:0000752	Hyperactivity	-	OMIM:252930
138050	HGSNAT	HP:0000767	Pectus excavatum	2/7	OMIM:615777
138050	HGSNAT	HP:0000768	Pectus carinatum	1/7	OMIM:615777
138050	HGSNAT	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
138050	HGSNAT	HP:0000750	Delayed speech and language development	-	OMIM:615777
138050	HGSNAT	HP:0011463	Childhood onset	3/19	OMIM:180100
138050	HGSNAT	HP:0011463	Childhood onset	6/8	OMIM:252930
138050	HGSNAT	HP:0011463	Childhood onset	2/6	OMIM:616544
138050	HGSNAT	HP:0011462	Young adult onset	8/19	OMIM:180100
138050	HGSNAT	HP:0011461	Fetal onset	7/7	OMIM:615777
138050	HGSNAT	HP:0000774	Narrow chest	2/7	OMIM:615777
138050	HGSNAT	HP:0030786	Photopsia	1/6	OMIM:616544
138050	HGSNAT	HP:0030786	Photopsia	HP:0040283	ORPHA:791
138050	HGSNAT	HP:0000926	Platyspondyly	1/7	OMIM:615777
138050	HGSNAT	HP:0003180	Flat acetabular roof	-	OMIM:615777
138050	HGSNAT	HP:0000900	Thickened ribs	-	OMIM:252930
138050	HGSNAT	HP:0004482	Relative macrocephaly	-	OMIM:615777
138050	HGSNAT	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
138050	HGSNAT	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
138050	HGSNAT	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
138050	HGSNAT	HP:0000823	Delayed puberty	-	OMIM:131300
138050	HGSNAT	HP:0000894	Short clavicles	-	OMIM:615777
138050	HGSNAT	HP:0004568	Beaking of vertebral bodies	1/11	OMIM:252930
138050	HGSNAT	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
138050	HGSNAT	HP:0000998	Hypertrichosis	2/11	OMIM:252930
138050	HGSNAT	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
138050	HGSNAT	HP:0000943	Dysostosis multiplex	-	OMIM:252930
138050	HGSNAT	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
138050	HGSNAT	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
138050	HGSNAT	HP:0000286	Epicanthus	1/7	OMIM:615777
138050	HGSNAT	HP:0000280	Coarse facial features	2/7	OMIM:615777
138050	HGSNAT	HP:0000280	Coarse facial features	10/11	OMIM:252930
138050	HGSNAT	HP:0000268	Dolichocephaly	-	OMIM:252930
138050	HGSNAT	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
138050	HGSNAT	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
138050	HGSNAT	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
138050	HGSNAT	HP:0007737	Bone spicule pigmentation of the retina	2/6	OMIM:616544
138050	HGSNAT	HP:0002827	Hip dislocation	3/7	OMIM:615777
138050	HGSNAT	HP:0000252	Microcephaly	-	OMIM:615777
138050	HGSNAT	HP:0000250	Dense calvaria	-	OMIM:252930
138050	HGSNAT	HP:0000232	Everted lower lip vermilion	-	OMIM:252930
138050	HGSNAT	HP:0002857	Genu valgum	-	OMIM:131300
138050	HGSNAT	HP:0001533	Slender build	-	OMIM:131300
138050	HGSNAT	HP:0001507	Growth abnormality	-	OMIM:252930
138050	HGSNAT	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
138050	HGSNAT	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
138050	HGSNAT	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
138050	HGSNAT	HP:0007807	Optic nerve compression	-	OMIM:131300
138050	HGSNAT	HP:0012368	Flat face	7/7	OMIM:615777
138050	HGSNAT	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
138050	HGSNAT	HP:0000365	Hearing impairment	5/11	OMIM:252930
138050	HGSNAT	HP:0000365	Hearing impairment	10/67	OMIM:131300
138050	HGSNAT	HP:0000343	Long philtrum	1/7	OMIM:615777
138050	HGSNAT	HP:0001670	Asymmetric septal hypertrophy	-	OMIM:252930
138050	HGSNAT	HP:0011001	Increased bone mineral density	-	OMIM:131300
138050	HGSNAT	HP:0000311	Round face	2/7	OMIM:615777
138050	HGSNAT	HP:0002970	Genu varum	-	OMIM:615777
138050	HGSNAT	HP:0000303	Mandibular prognathia	-	OMIM:131300
138050	HGSNAT	HP:0031609	Geographic atrophy	1/6	OMIM:616544
138050	HGSNAT	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
138050	HGSNAT	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
138050	HGSNAT	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
138050	HGSNAT	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
138050	HGSNAT	HP:0000470	Short neck	1/7	OMIM:615777
138050	HGSNAT	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
138050	HGSNAT	HP:0001769	Broad foot	HP:0040283	OMIM:615777
138050	HGSNAT	HP:0001763	Pes planus	1/7	OMIM:615777
138050	HGSNAT	HP:0001744	Splenomegaly	1/11	OMIM:252930
138050	HGSNAT	HP:0025708	Early young adult onset	1/6	OMIM:616544
138050	HGSNAT	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
138050	HGSNAT	HP:0000510	Rod-cone dystrophy	6/6	OMIM:616544
138050	HGSNAT	HP:0000510	Rod-cone dystrophy	-	OMIM:252930
138050	HGSNAT	HP:0001840	Metatarsus adductus	-	OMIM:615777
138050	HGSNAT	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
138050	HGSNAT	HP:0000520	Proptosis	2/4	OMIM:131300
138050	HGSNAT	HP:0000520	Proptosis	7/7	OMIM:615777
138050	HGSNAT	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
138050	HGSNAT	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
138050	HGSNAT	HP:0000575	Scotoma	5/18	OMIM:180100
138050	HGSNAT	HP:0000592	Blue sclerae	2/7	OMIM:615777
138050	HGSNAT	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
138050	HGSNAT	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
138050	HGSNAT	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
138050	HGSNAT	HP:0000551	Color vision defect	1/6	OMIM:616544
138050	HGSNAT	HP:0012514	Lower limb pain	4/4	OMIM:131300
138050	HGSNAT	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
138050	HGSNAT	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
138050	HGSNAT	HP:0000543	Optic disc pallor	1/1	OMIM:180100
138050	HGSNAT	HP:0000543	Optic disc pallor	2/6	OMIM:616544
138050	HGSNAT	HP:0000545	Myopia	-	OMIM:180100
139212	DNAAF6	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
139212	DNAAF6	HP:0001217	Clubbing	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0002643	Neonatal respiratory distress	2/4	OMIM:300991
139212	DNAAF6	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
139212	DNAAF6	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0001419	X-linked recessive inheritance	-	OMIM:300991
139212	DNAAF6	HP:0031245	Productive cough	HP:0040282	ORPHA:244
139212	DNAAF6	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
139212	DNAAF6	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
139212	DNAAF6	HP:0002110	Bronchiectasis	2/2	OMIM:300991
139212	DNAAF6	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0008222	Female infertility	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
139212	DNAAF6	HP:0002205	Recurrent respiratory infections	4/4	OMIM:300991
139212	DNAAF6	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
139212	DNAAF6	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
139212	DNAAF6	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
139212	DNAAF6	HP:0003623	Neonatal onset	2/2	OMIM:300991
139212	DNAAF6	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0012735	Cough	4/4	OMIM:300991
139212	DNAAF6	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
139212	DNAAF6	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
139212	DNAAF6	HP:0030828	Wheezing	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0003251	Male infertility	1/1	OMIM:300991
139212	DNAAF6	HP:0003251	Male infertility	HP:0040282	ORPHA:244
139212	DNAAF6	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0033036	Decreased nasal nitric oxide	4/4	OMIM:300991
139212	DNAAF6	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
139212	DNAAF6	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
139212	DNAAF6	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
139212	DNAAF6	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
139212	DNAAF6	HP:0000389	Chronic otitis media	4/4	OMIM:300991
139212	DNAAF6	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
139212	DNAAF6	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0001696	Situs inversus totalis	2/4	OMIM:300991
139212	DNAAF6	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
139212	DNAAF6	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
139212	DNAAF6	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
139212	DNAAF6	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
139212	DNAAF6	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
139212	DNAAF6	HP:0011108	Recurrent sinusitis	2/2	OMIM:300991
139212	DNAAF6	HP:0001746	Asplenia	HP:0040284	ORPHA:244
139212	DNAAF6	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
139212	DNAAF6	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
139212	DNAAF6	HP:0001742	Nasal congestion	4/4	OMIM:300991
139212	DNAAF6	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
139212	DNAAF6	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
139212	DNAAF6	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
139285	AMER1	HP:0001166	Arachnodactyly	-	OMIM:300373
139285	AMER1	HP:0008551	Microtia	-	OMIM:300373
139285	AMER1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
139285	AMER1	HP:0001293	Cranial nerve compression	-	OMIM:131300
139285	AMER1	HP:0001290	Generalized hypotonia	-	OMIM:300373
139285	AMER1	HP:0001256	Intellectual disability, mild	HP:0040282	OMIM:300373
139285	AMER1	HP:0001250	Seizure	-	OMIM:300373
139285	AMER1	HP:0001252	Hypotonia	-	OMIM:300373
139285	AMER1	HP:0001252	Hypotonia	2/7	OMIM:615777
139285	AMER1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2780
139285	AMER1	HP:0001249	Intellectual disability	5/7	OMIM:615777
139285	AMER1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2780
139285	AMER1	HP:0001263	Global developmental delay	-	OMIM:615777
139285	AMER1	HP:0002566	Intestinal malrotation	-	OMIM:300373
139285	AMER1	HP:0002515	Waddling gait	54/102	OMIM:131300
139285	AMER1	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:2780
139285	AMER1	HP:0008808	High iliac wing	HP:0040281	ORPHA:2780
139285	AMER1	HP:0001382	Joint hypermobility	-	OMIM:615777
139285	AMER1	HP:0002684	Thickened calvaria	-	OMIM:300373
139285	AMER1	HP:0002684	Thickened calvaria	HP:0040281	ORPHA:2780
139285	AMER1	HP:0002694	Sclerosis of skull base	-	OMIM:300373
139285	AMER1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
139285	AMER1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
139285	AMER1	HP:0008818	Large iliac wing	HP:0040281	ORPHA:2780
139285	AMER1	HP:0001328	Specific learning disability	HP:0040283	ORPHA:2780
139285	AMER1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
139285	AMER1	HP:0001324	Muscle weakness	40/96	OMIM:131300
139285	AMER1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
139285	AMER1	HP:0001338	Partial agenesis of the corpus callosum	-	OMIM:300373
139285	AMER1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
139285	AMER1	HP:0000003	Multicystic kidney dysplasia	HP:0040284	OMIM:300373
139285	AMER1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
139285	AMER1	HP:0002650	Scoliosis	HP:0040282	ORPHA:2780
139285	AMER1	HP:0002650	Scoliosis	23%	OMIM:300373
139285	AMER1	HP:0002650	Scoliosis	12/14	OMIM:131300
139285	AMER1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
139285	AMER1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
139285	AMER1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
139285	AMER1	HP:0000179	Thick lower lip vermilion	-	OMIM:300373
139285	AMER1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
139285	AMER1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:2780
139285	AMER1	HP:0000193	Bifid uvula	-	OMIM:300373
139285	AMER1	HP:0000176	Submucous cleft hard palate	HP:0040282	ORPHA:2780
139285	AMER1	HP:0000175	Cleft palate	2/7	OMIM:615777
139285	AMER1	HP:0000175	Cleft palate	HP:0040282	ORPHA:2780
139285	AMER1	HP:0000175	Cleft palate	-	OMIM:300373
139285	AMER1	HP:0001476	Delayed closure of the anterior fontanelle	-	OMIM:300373
139285	AMER1	HP:0002705	High, narrow palate	HP:0040282	ORPHA:2780
139285	AMER1	HP:0002779	Tracheomalacia	-	OMIM:300373
139285	AMER1	HP:0001423	X-linked dominant inheritance	-	OMIM:300373
139285	AMER1	HP:0002025	Anal stenosis	HP:0040284	OMIM:300373
139285	AMER1	HP:0002023	Anal atresia	HP:0040284	OMIM:300373
139285	AMER1	HP:0002020	Gastroesophageal reflux	-	OMIM:300373
139285	AMER1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:2780
139285	AMER1	HP:0002007	Frontal bossing	-	OMIM:300373
139285	AMER1	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:2780
139285	AMER1	HP:0005950	Laryngeal web	-	OMIM:300373
139285	AMER1	HP:0003388	Easy fatigability	36/76	OMIM:131300
139285	AMER1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
139285	AMER1	HP:0009473	Joint contracture of the hand	-	OMIM:300373
139285	AMER1	HP:0002104	Apnea	-	OMIM:300373
139285	AMER1	HP:0010529	Echolalia	HP:0040283	ORPHA:2780
139285	AMER1	HP:0010628	Facial palsy	HP:0040283	ORPHA:2780
139285	AMER1	HP:0010628	Facial palsy	-	OMIM:300373
139285	AMER1	HP:0003510	Severe short stature	7/7	OMIM:615777
139285	AMER1	HP:0003510	Severe short stature	HP:0040283	ORPHA:2780
139285	AMER1	HP:0002381	Aphasia	HP:0040283	ORPHA:2780
139285	AMER1	HP:0002315	Headache	-	OMIM:131300
139285	AMER1	HP:0002315	Headache	HP:0040283	OMIM:300373
139285	AMER1	HP:0004976	Knee dislocation	6/7	OMIM:615777
139285	AMER1	HP:0100670	Coarse metaphyseal trabecularization	HP:0040281	ORPHA:2780
139285	AMER1	HP:0009803	Short phalanx of finger	-	OMIM:615777
139285	AMER1	HP:0010740	Osteopathia striata	-	OMIM:300373
139285	AMER1	HP:0009763	Limb pain	63/92	OMIM:131300
139285	AMER1	HP:0002300	Mutism	HP:0040283	ORPHA:2780
139285	AMER1	HP:0003621	Juvenile onset	-	OMIM:131300
139285	AMER1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
139285	AMER1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:300373
139285	AMER1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
139285	AMER1	HP:6001056	Out-toeing	-	OMIM:131300
139285	AMER1	HP:0000651	Diplopia	-	OMIM:131300
139285	AMER1	HP:0001956	Truncal obesity	2/7	OMIM:615777
139285	AMER1	HP:0001903	Anemia	HP:0040283	OMIM:131300
139285	AMER1	HP:0010049	Short metacarpal	-	OMIM:615777
139285	AMER1	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:2780
139285	AMER1	HP:0000678	Dental crowding	-	OMIM:615777
139285	AMER1	HP:0000678	Dental crowding	-	OMIM:300373
139285	AMER1	HP:0000695	Natal tooth	-	OMIM:300373
139285	AMER1	HP:0000689	Dental malocclusion	-	OMIM:300373
139285	AMER1	HP:0000670	Carious teeth	-	OMIM:131300
139285	AMER1	HP:0011304	Broad thumb	2/7	OMIM:615777
139285	AMER1	HP:0000668	Hypodontia	-	OMIM:615777
139285	AMER1	HP:0000664	Synophrys	-	OMIM:615777
139285	AMER1	HP:0004322	Short stature	-	OMIM:300373
139285	AMER1	HP:0005619	Thoracolumbar kyphosis	-	OMIM:300373
139285	AMER1	HP:0004396	Poor appetite	-	OMIM:131300
139285	AMER1	HP:0003038	Fibular hypoplasia	-	OMIM:300373
139285	AMER1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
139285	AMER1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
139285	AMER1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
139285	AMER1	HP:0003026	Short long bone	7/7	OMIM:615777
139285	AMER1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
139285	AMER1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
139285	AMER1	HP:0000767	Pectus excavatum	-	OMIM:300373
139285	AMER1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
139285	AMER1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
139285	AMER1	HP:0000750	Delayed speech and language development	10%	OMIM:300373
139285	AMER1	HP:0000750	Delayed speech and language development	-	OMIM:615777
139285	AMER1	HP:0011461	Fetal onset	7/7	OMIM:615777
139285	AMER1	HP:0000774	Narrow chest	2/7	OMIM:615777
139285	AMER1	HP:0000926	Platyspondyly	1/7	OMIM:615777
139285	AMER1	HP:0003180	Flat acetabular roof	-	OMIM:615777
139285	AMER1	HP:0004482	Relative macrocephaly	-	OMIM:615777
139285	AMER1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
139285	AMER1	HP:0000885	Broad ribs	-	OMIM:300373
139285	AMER1	HP:0000823	Delayed puberty	-	OMIM:131300
139285	AMER1	HP:0000894	Short clavicles	-	OMIM:615777
139285	AMER1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
139285	AMER1	HP:0005830	Flexion contracture of toe	-	OMIM:300373
139285	AMER1	HP:0003298	Spina bifida occulta	-	OMIM:300373
139285	AMER1	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:2780
139285	AMER1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
139285	AMER1	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2780
139285	AMER1	HP:0000286	Epicanthus	HP:0040283	ORPHA:2780
139285	AMER1	HP:0000286	Epicanthus	-	OMIM:300373
139285	AMER1	HP:0000286	Epicanthus	1/7	OMIM:615777
139285	AMER1	HP:0000280	Coarse facial features	2/7	OMIM:615777
139285	AMER1	HP:0000278	Retrognathia	HP:0040283	ORPHA:2780
139285	AMER1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:2780
139285	AMER1	HP:0000256	Macrocephaly	-	OMIM:300373
139285	AMER1	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:2780
139285	AMER1	HP:0002827	Hip dislocation	3/7	OMIM:615777
139285	AMER1	HP:0000239	Large fontanelles	-	OMIM:300373
139285	AMER1	HP:0000239	Large fontanelles	HP:0040282	ORPHA:2780
139285	AMER1	HP:0000238	Hydrocephalus	-	OMIM:300373
139285	AMER1	HP:0000252	Microcephaly	-	OMIM:615777
139285	AMER1	HP:0000248	Brachycephaly	HP:0040283	ORPHA:2780
139285	AMER1	HP:0000218	High palate	15%	OMIM:300373
139285	AMER1	HP:0001562	Oligohydramnios	-	OMIM:300373
139285	AMER1	HP:0001561	Polyhydramnios	-	OMIM:300373
139285	AMER1	HP:0001555	Asymmetry of the thorax	HP:0040283	ORPHA:2780
139285	AMER1	HP:0002857	Genu valgum	-	OMIM:131300
139285	AMER1	HP:0001539	Omphalocele	HP:0040284	OMIM:300373
139285	AMER1	HP:0001533	Slender build	-	OMIM:131300
139285	AMER1	HP:0000201	Pierre-Robin sequence	-	OMIM:300373
139285	AMER1	HP:0000204	Cleft upper lip	-	OMIM:300373
139285	AMER1	HP:0001508	Failure to thrive	-	OMIM:300373
139285	AMER1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
139285	AMER1	HP:0007807	Optic nerve compression	-	OMIM:131300
139285	AMER1	HP:0012385	Camptodactyly	-	OMIM:300373
139285	AMER1	HP:0012368	Flat face	7/7	OMIM:615777
139285	AMER1	HP:0012368	Flat face	HP:0040283	ORPHA:2780
139285	AMER1	HP:0000396	Overfolded helix	-	OMIM:300373
139285	AMER1	HP:0006587	Straight clavicles	-	OMIM:300373
139285	AMER1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
139285	AMER1	HP:0001611	Hypernasal speech	-	OMIM:300373
139285	AMER1	HP:0000365	Hearing impairment	10/67	OMIM:131300
139285	AMER1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:2780
139285	AMER1	HP:0000358	Posteriorly rotated ears	-	OMIM:300373
139285	AMER1	HP:0000369	Low-set ears	HP:0040283	ORPHA:2780
139285	AMER1	HP:0000369	Low-set ears	-	OMIM:300373
139285	AMER1	HP:0000341	Narrow forehead	-	OMIM:300373
139285	AMER1	HP:0000343	Long philtrum	1/7	OMIM:615777
139285	AMER1	HP:0011002	Osteopetrosis	HP:0040281	ORPHA:2780
139285	AMER1	HP:0011001	Increased bone mineral density	-	OMIM:131300
139285	AMER1	HP:0011001	Increased bone mineral density	HP:0040281	ORPHA:2780
139285	AMER1	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:2780
139285	AMER1	HP:0000347	Micrognathia	HP:0040283	ORPHA:2780
139285	AMER1	HP:0000347	Micrognathia	-	OMIM:300373
139285	AMER1	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:2780
139285	AMER1	HP:0000316	Hypertelorism	-	OMIM:300373
139285	AMER1	HP:0001643	Patent ductus arteriosus	-	OMIM:300373
139285	AMER1	HP:0000311	Round face	2/7	OMIM:615777
139285	AMER1	HP:0002990	Fibular aplasia	-	OMIM:300373
139285	AMER1	HP:0001629	Ventricular septal defect	-	OMIM:300373
139285	AMER1	HP:0002970	Genu varum	-	OMIM:615777
139285	AMER1	HP:0001631	Atrial septal defect	-	OMIM:300373
139285	AMER1	HP:0000303	Mandibular prognathia	-	OMIM:131300
139285	AMER1	HP:0006610	Wide intermamillary distance	-	OMIM:300373
139285	AMER1	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:2780
139285	AMER1	HP:0000405	Conductive hearing impairment	-	OMIM:300373
139285	AMER1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
139285	AMER1	HP:0000470	Short neck	1/7	OMIM:615777
139285	AMER1	HP:0000465	Webbed neck	-	OMIM:300373
139285	AMER1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
139285	AMER1	HP:0001763	Pes planus	1/7	OMIM:615777
139285	AMER1	HP:0001762	Talipes equinovarus	-	OMIM:300373
139285	AMER1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:2780
139285	AMER1	HP:0000431	Wide nasal bridge	-	OMIM:300373
139285	AMER1	HP:0005469	Flat occiput	HP:0040282	ORPHA:2780
139285	AMER1	HP:0005465	Facial hyperostosis	HP:0040281	ORPHA:2780
139285	AMER1	HP:0005464	Craniofacial osteosclerosis	-	OMIM:300373
139285	AMER1	HP:0006784	Paranasal sinus hypoplasia	-	OMIM:300373
139285	AMER1	HP:0000518	Cataract	HP:0040283	ORPHA:2780
139285	AMER1	HP:0001840	Metatarsus adductus	-	OMIM:615777
139285	AMER1	HP:0000520	Proptosis	2/4	OMIM:131300
139285	AMER1	HP:0000520	Proptosis	7/7	OMIM:615777
139285	AMER1	HP:0000592	Blue sclerae	2/7	OMIM:615777
139285	AMER1	HP:0011220	Prominent forehead	HP:0040282	ORPHA:2780
139285	AMER1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
139285	AMER1	HP:0012514	Lower limb pain	4/4	OMIM:131300
139411	PTCHD1	HP:0001290	Generalized hypotonia	HP:0040283	OMIM:300830
139411	PTCHD1	HP:0001252	Hypotonia	HP:0040283	OMIM:300830
139411	PTCHD1	HP:0001249	Intellectual disability	-	OMIM:300830
139411	PTCHD1	HP:0001419	X-linked recessive inheritance	-	OMIM:300830
139411	PTCHD1	HP:0003593	Infantile onset	-	OMIM:300830
139411	PTCHD1	HP:0100710	Impulsivity	-	OMIM:300830
139411	PTCHD1	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:300830
139411	PTCHD1	HP:0100034	Motor tics	-	OMIM:300830
139411	PTCHD1	HP:0000718	Aggressive behavior	-	OMIM:300830
139411	PTCHD1	HP:0000717	Autism	HP:0040280	OMIM:300830
139818	DOCK11	HP:0032230	Cytoplasmic antineutrophil antibody positivity	1/11	OMIM:301109
139818	DOCK11	HP:0001252	Hypotonia	1/1	OMIM:301109
139818	DOCK11	HP:0007417	Discoid lupus rash	1/12	OMIM:301109
139818	DOCK11	HP:0033677	Acute respiratory distress syndrome	1/12	OMIM:301109
139818	DOCK11	HP:0025379	Anti-thyroid peroxidase antibody positivity	1/8	OMIM:301109
139818	DOCK11	HP:0008897	Postnatal growth retardation	2/8	OMIM:301109
139818	DOCK11	HP:0031123	Recurrent gastroenteritis	3/4	OMIM:301109
139818	DOCK11	HP:0000155	Oral ulcer	1/8	OMIM:301109
139818	DOCK11	HP:0000100	Nephrotic syndrome	1/12	OMIM:301109
139818	DOCK11	HP:0032564	Ileitis	1/7	OMIM:301109
139818	DOCK11	HP:0031234	Neutrophilic infiltration of the skin	1/7	OMIM:301109
139818	DOCK11	HP:0001419	X-linked recessive inheritance	-	OMIM:301109
139818	DOCK11	HP:0002725	Systemic lupus erythematosus	2/12	OMIM:301109
139818	DOCK11	HP:0002720	Decreased circulating IgA concentration	2/5	OMIM:301109
139818	DOCK11	HP:0002014	Diarrhea	3/12	OMIM:301109
139818	DOCK11	HP:0002091	Restrictive ventilatory defect	1/1	OMIM:301109
139818	DOCK11	HP:0003493	Antinuclear antibody positivity	1/4	OMIM:301109
139818	DOCK11	HP:0003593	Infantile onset	2/4	OMIM:301109
139818	DOCK11	HP:0003577	Congenital onset	1/4	OMIM:301109
139818	DOCK11	HP:0002240	Hepatomegaly	2/4	OMIM:301109
139818	DOCK11	HP:0032069	Anti-thyroglobulin antibody positivity	1/8	OMIM:301109
139818	DOCK11	HP:0020086	BCGitis	1/4	OMIM:301109
139818	DOCK11	HP:0004844	Coombs-positive hemolytic anemia	4/8	OMIM:301109
139818	DOCK11	HP:0003621	Juvenile onset	6/8	OMIM:301109
139818	DOCK11	HP:4000031	Anti-type VII collagen antibody	1/8	OMIM:301109
139818	DOCK11	HP:4000025	Anti-integrin antibody positivity	1/8	OMIM:301109
139818	DOCK11	HP:0001973	Autoimmune thrombocytopenia	2/8	OMIM:301109
139818	DOCK11	HP:0001974	Increased total leukocyte count	2/4	OMIM:301109
139818	DOCK11	HP:0001904	Autoimmune neutropenia	1/8	OMIM:301109
139818	DOCK11	HP:0004315	Decreased circulating IgG concentration	1/4	OMIM:301109
139818	DOCK11	HP:0011463	Childhood onset	3/12	OMIM:301109
139818	DOCK11	HP:0005764	Polyarticular arthritis	2/8	OMIM:301109
139818	DOCK11	HP:0003212	Increased circulating IgE concentration	1/3	OMIM:301109
139818	DOCK11	HP:0003262	Anti-smooth muscle antibody positivity	2/10	OMIM:301109
139818	DOCK11	HP:0100280	Crohn's disease	1/4	OMIM:301109
139818	DOCK11	HP:0100279	Ulcerative colitis	1/12	OMIM:301109
139818	DOCK11	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	2/8	OMIM:301109
139818	DOCK11	HP:0000265	Mastoiditis	1/4	OMIM:301109
139818	DOCK11	HP:0001508	Failure to thrive	3/4	OMIM:301109
139818	DOCK11	HP:0002837	Recurrent bronchitis	1/4	OMIM:301109
139818	DOCK11	HP:0002850	Decreased circulating total IgM	1/4	OMIM:301109
139818	DOCK11	HP:0006532	Recurrent pneumonia	1/4	OMIM:301109
139818	DOCK11	HP:0002923	Rheumatoid factor positive	3/8	OMIM:301109
139818	DOCK11	HP:0012490	Panniculitis	2/12	OMIM:301109
139818	DOCK11	HP:0000403	Recurrent otitis media	1/4	OMIM:301109
139818	DOCK11	HP:0001701	Pericarditis	2/2	OMIM:301109
139818	DOCK11	HP:0000474	Thickened nuchal skin fold	1/1	OMIM:301109
139818	DOCK11	HP:0001744	Splenomegaly	2/4	OMIM:301109
139818	DOCK11	HP:0011273	Anisocytosis	4/4	OMIM:301109
139818	DOCK11	HP:0001890	Autoimmune hemolytic anemia	3/4	OMIM:301109
139886	SPIN4	HP:0001249	Intellectual disability	0/1	OMIM:301114
139886	SPIN4	HP:0001417	X-linked inheritance	-	OMIM:301114
139886	SPIN4	HP:0002002	Deep philtrum	1/1	OMIM:301114
139886	SPIN4	HP:0003577	Congenital onset	1/1	OMIM:301114
139886	SPIN4	HP:0002240	Hepatomegaly	1/1	OMIM:301114
139886	SPIN4	HP:0002343	Normal pressure hydrocephalus	1/1	OMIM:301114
139886	SPIN4	HP:0000256	Macrocephaly	1/1	OMIM:301114
139886	SPIN4	HP:0001548	Overgrowth	1/1	OMIM:301114
139886	SPIN4	HP:0001520	Large for gestational age	1/1	OMIM:301114
139886	SPIN4	HP:0006610	Wide intermamillary distance	1/1	OMIM:301114
139886	SPIN4	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:301114
139886	SPIN4	HP:0000490	Deeply set eye	1/1	OMIM:301114
139886	SPIN4	HP:0001763	Pes planus	1/1	OMIM:301114
139886	SPIN4	HP:0000411	Protruding ear	1/1	OMIM:301114
139886	SPIN4	HP:0001744	Splenomegaly	1/1	OMIM:301114
140032	RPS4Y2	HP:0000027	Azoospermia	-	OMIM:415000
140032	RPS4Y2	HP:0001450	Y-linked inheritance	-	OMIM:415000
140032	RPS4Y2	HP:0011462	Young adult onset	-	OMIM:415000
140032	RPS4Y2	HP:0003251	Male infertility	-	OMIM:415000
140628	GATA5	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3303
140628	GATA5	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:3303
140628	GATA5	HP:0001279	Syncope	HP:0040282	ORPHA:334
140628	GATA5	HP:0003829	Typified by incomplete penetrance	-	OMIM:617912
140628	GATA5	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3303
140628	GATA5	HP:0000007	Autosomal recessive inheritance	-	OMIM:617912
140628	GATA5	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
140628	GATA5	HP:0000006	Autosomal dominant inheritance	-	OMIM:617912
140628	GATA5	HP:0002094	Dyspnea	HP:0040282	ORPHA:334
140628	GATA5	HP:0003577	Congenital onset	10/10	OMIM:617912
140628	GATA5	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:334
140628	GATA5	HP:0100749	Chest pain	HP:0040282	ORPHA:334
140628	GATA5	HP:0002321	Vertigo	HP:0040282	ORPHA:334
140628	GATA5	HP:0004962	Thoracic aorta calcification	HP:0040281	ORPHA:402075
140628	GATA5	HP:0004933	Ascending aortic dissection	HP:0040284	ORPHA:402075
140628	GATA5	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
140628	GATA5	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:3303
140628	GATA5	HP:0001962	Palpitations	HP:0040282	ORPHA:334
140628	GATA5	HP:0001907	Thromboembolism	HP:0040283	ORPHA:334
140628	GATA5	HP:0004383	Hypoplastic left heart	HP:0040284	ORPHA:402075
140628	GATA5	HP:0004380	Aortic valve calcification	HP:0040281	ORPHA:402075
140628	GATA5	HP:0004467	Preauricular pit	HP:0040282	ORPHA:3303
140628	GATA5	HP:0004467	Preauricular pit	-	OMIM:187500
140628	GATA5	HP:0000822	Hypertension	HP:0040282	ORPHA:402075
140628	GATA5	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:3303
140628	GATA5	HP:0005113	Aortic arch aneurysm	HP:0040282	ORPHA:402075
140628	GATA5	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:334
140628	GATA5	HP:0005110	Atrial fibrillation	-	OMIM:617912
140628	GATA5	HP:0005105	Abnormal nasal morphology	HP:0040281	ORPHA:3303
140628	GATA5	HP:0000233	Thin vermilion border	HP:0040282	ORPHA:3303
140628	GATA5	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:3303
140628	GATA5	HP:0012378	Fatigue	HP:0040282	ORPHA:334
140628	GATA5	HP:0000337	Broad forehead	-	OMIM:187500
140628	GATA5	HP:0000337	Broad forehead	HP:0040281	ORPHA:3303
140628	GATA5	HP:0001680	Coarctation of aorta	HP:0040281	ORPHA:402075
140628	GATA5	HP:0001650	Aortic valve stenosis	HP:0040281	ORPHA:402075
140628	GATA5	HP:0001650	Aortic valve stenosis	1/10	OMIM:617912
140628	GATA5	HP:0001647	Bicuspid aortic valve	HP:0040280	ORPHA:402075
140628	GATA5	HP:0001647	Bicuspid aortic valve	-	OMIM:617912
140628	GATA5	HP:0001644	Dilated cardiomyopathy	HP:0040284	OMIM:617912
140628	GATA5	HP:0030148	Heart murmur	HP:0040281	ORPHA:402075
140628	GATA5	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:334
140628	GATA5	HP:0001659	Aortic regurgitation	HP:0040281	ORPHA:402075
140628	GATA5	HP:0001629	Ventricular septal defect	6/10	OMIM:617912
140628	GATA5	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:3303
140628	GATA5	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
140628	GATA5	HP:0001636	Tetralogy of Fallot	2/10	OMIM:617912
140628	GATA5	HP:0001631	Atrial septal defect	2/10	OMIM:617912
140628	GATA5	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:334
140628	GATA5	HP:0001719	Double outlet right ventricle	1/10	OMIM:617912
140628	GATA5	HP:0011103	Abnormal left ventricular outflow tract morphology	HP:0040284	ORPHA:402075
140628	GATA5	HP:0000520	Proptosis	-	OMIM:187500
140628	GATA5	HP:0000520	Proptosis	HP:0040282	ORPHA:3303
140679	SLC32A1	HP:0001182	Tapered finger	1/4	OMIM:620774
140679	SLC32A1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	3/34	OMIM:620755
140679	SLC32A1	HP:0009909	Uplifted earlobe	1/4	OMIM:620774
140679	SLC32A1	HP:0007270	Atypical absence seizure	1/4	OMIM:620774
140679	SLC32A1	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:1934
140679	SLC32A1	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0002421	Poor head control	HP:0040282	ORPHA:1934
140679	SLC32A1	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0001270	Motor delay	4/4	OMIM:620774
140679	SLC32A1	HP:0001254	Lethargy	HP:0040282	ORPHA:1934
140679	SLC32A1	HP:0001250	Seizure	HP:0040280	ORPHA:1934
140679	SLC32A1	HP:0001250	Seizure	1/1	OMIM:620755
140679	SLC32A1	HP:0001252	Hypotonia	4/4	OMIM:620774
140679	SLC32A1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1934
140679	SLC32A1	HP:0001249	Intellectual disability	4/4	OMIM:620774
140679	SLC32A1	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1934
140679	SLC32A1	HP:0001263	Global developmental delay	3/3	OMIM:620774
140679	SLC32A1	HP:0001257	Spasticity	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0007359	Focal-onset seizure	7/34	OMIM:620755
140679	SLC32A1	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:1934
140679	SLC32A1	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0000070	Ureterocele	HP:0040284	ORPHA:1934
140679	SLC32A1	HP:0000054	Micropenis	HP:0040284	ORPHA:1934
140679	SLC32A1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1934
140679	SLC32A1	HP:0001332	Dystonia	1/4	OMIM:620774
140679	SLC32A1	HP:0001332	Dystonia	HP:0040284	ORPHA:1934
140679	SLC32A1	HP:0033725	Thin corpus callosum	1/4	OMIM:620774
140679	SLC32A1	HP:0001337	Tremor	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620755
140679	SLC32A1	HP:0000006	Autosomal dominant inheritance	-	OMIM:620774
140679	SLC32A1	HP:0001336	Myoclonus	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0001302	Pachygyria	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0000175	Cleft palate	HP:0040284	ORPHA:1934
140679	SLC32A1	HP:0008947	Floppy infant	HP:0040282	ORPHA:1934
140679	SLC32A1	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:1934
140679	SLC32A1	HP:0002033	Poor suck	HP:0040282	ORPHA:1934
140679	SLC32A1	HP:0002015	Dysphagia	HP:0040282	ORPHA:1934
140679	SLC32A1	HP:0002069	Bilateral tonic-clonic seizure	3/4	OMIM:620774
140679	SLC32A1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0002072	Chorea	2/4	OMIM:620774
140679	SLC32A1	HP:0002059	Cerebral atrophy	1/4	OMIM:620774
140679	SLC32A1	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:1934
140679	SLC32A1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0002119	Ventriculomegaly	1/4	OMIM:620774
140679	SLC32A1	HP:0002133	Status epilepticus	1/4	OMIM:620774
140679	SLC32A1	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0002197	Generalized-onset seizure	11/11	OMIM:620755
140679	SLC32A1	HP:0010535	Sleep apnea	1/4	OMIM:620774
140679	SLC32A1	HP:0033258	Sudden unexpected death in epilepsy	1/34	OMIM:620755
140679	SLC32A1	HP:0003593	Infantile onset	2/4	OMIM:620774
140679	SLC32A1	HP:0100716	Self-injurious behavior	1/2	OMIM:620774
140679	SLC32A1	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1934
140679	SLC32A1	HP:0010721	Abnormal hair whorl	1/4	OMIM:620774
140679	SLC32A1	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:1934
140679	SLC32A1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1934
140679	SLC32A1	HP:0002384	Focal impaired awareness seizure	3/4	OMIM:620774
140679	SLC32A1	HP:0002360	Sleep abnormality	3/3	OMIM:620774
140679	SLC32A1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:1934
140679	SLC32A1	HP:0002376	Developmental regression	4/4	OMIM:620774
140679	SLC32A1	HP:0002376	Developmental regression	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	23/33	OMIM:620755
140679	SLC32A1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1934
140679	SLC32A1	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0008523	Posterior helix pit	1/4	OMIM:620774
140679	SLC32A1	HP:0010819	Atonic seizure	2/4	OMIM:620774
140679	SLC32A1	HP:0010819	Atonic seizure	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0007166	Paroxysmal dyskinesia	1/34	OMIM:620755
140679	SLC32A1	HP:0007166	Paroxysmal dyskinesia	1/4	OMIM:620774
140679	SLC32A1	HP:0000664	Synophrys	1/4	OMIM:620774
140679	SLC32A1	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0100021	Cerebral palsy	1/4	OMIM:620774
140679	SLC32A1	HP:0000750	Delayed speech and language development	4/4	OMIM:620774
140679	SLC32A1	HP:0000718	Aggressive behavior	1/2	OMIM:620774
140679	SLC32A1	HP:0000729	Autistic behavior	1/34	OMIM:620755
140679	SLC32A1	HP:0000729	Autistic behavior	2/4	OMIM:620774
140679	SLC32A1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0010174	Broad phalanx of the toes	HP:0040284	ORPHA:1934
140679	SLC32A1	HP:0011463	Childhood onset	23/23	OMIM:620755
140679	SLC32A1	HP:0011463	Childhood onset	2/4	OMIM:620774
140679	SLC32A1	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1934
140679	SLC32A1	HP:0008070	Sparse hair	1/4	OMIM:620774
140679	SLC32A1	HP:0009381	Short finger	HP:0040284	ORPHA:1934
140679	SLC32A1	HP:0000238	Hydrocephalus	1/4	OMIM:620774
140679	SLC32A1	HP:0000252	Microcephaly	HP:0040284	ORPHA:1934
140679	SLC32A1	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1934
140679	SLC32A1	HP:0001508	Failure to thrive	HP:0040284	ORPHA:1934
140679	SLC32A1	HP:0001500	Broad finger	HP:0040284	ORPHA:1934
140679	SLC32A1	HP:0000340	Sloping forehead	HP:0040284	ORPHA:1934
140679	SLC32A1	HP:0032794	Myoclonic seizure	2/4	OMIM:620774
140679	SLC32A1	HP:0000316	Hypertelorism	1/4	OMIM:620774
140679	SLC32A1	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:1934
140679	SLC32A1	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0011170	Generalized myoclonic-atonic seizure	2/34	OMIM:620755
140679	SLC32A1	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:1934
140679	SLC32A1	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:1934
140679	SLC32A1	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:1934
140679	SLC32A1	HP:0000486	Strabismus	HP:0040284	ORPHA:1934
140679	SLC32A1	HP:0012469	Infantile spasms	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0000494	Downslanted palpebral fissures	1/4	OMIM:620774
140679	SLC32A1	HP:0000490	Deeply set eye	1/4	OMIM:620774
140679	SLC32A1	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1934
140679	SLC32A1	HP:0012448	Delayed myelination	HP:0040283	ORPHA:1934
140679	SLC32A1	HP:0012450	Chronic constipation	1/4	OMIM:620774
140679	SLC32A1	HP:0001852	Sandal gap	1/4	OMIM:620774
140679	SLC32A1	HP:0000577	Exotropia	1/4	OMIM:620774
140679	SLC32A1	HP:0012554	Absent thumbnail	HP:0040284	ORPHA:1934
140732	SUN5	HP:0000007	Autosomal recessive inheritance	-	OMIM:617187
140732	SUN5	HP:0008226	Androgen insufficiency	-	ORPHA:529970
140732	SUN5	HP:0011462	Young adult onset	8/8	OMIM:617187
140732	SUN5	HP:0000798	Oligozoospermia	HP:0040282	ORPHA:529970
140732	SUN5	HP:0012867	Abnormal sperm mid-piece morphology	HP:0040283	ORPHA:529970
140732	SUN5	HP:0012869	Acephalic spermatozoa	8/8	OMIM:617187
140732	SUN5	HP:0012869	Acephalic spermatozoa	HP:0040281	ORPHA:529970
140732	SUN5	HP:0003251	Male infertility	HP:0040281	ORPHA:529970
140732	SUN5	HP:0003251	Male infertility	8/8	OMIM:617187
140732	SUN5	HP:0012207	Reduced sperm motility	8/8	OMIM:617187
140732	SUN5	HP:0012207	Reduced sperm motility	HP:0040282	ORPHA:529970
140732	SUN5	HP:0002916	Abnormality of chromosome segregation	-	ORPHA:529970
140801	RPL10L	HP:0008734	Decreased testicular size	2/2	OMIM:619689
140801	RPL10L	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
140801	RPL10L	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
140801	RPL10L	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
140801	RPL10L	HP:0000007	Autosomal recessive inheritance	-	OMIM:619689
140801	RPL10L	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
140801	RPL10L	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
140801	RPL10L	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
140801	RPL10L	HP:0034011	Reduced progressive sperm motility	2/2	OMIM:619689
140801	RPL10L	HP:0011462	Young adult onset	2/2	OMIM:619689
140801	RPL10L	HP:0000798	Oligozoospermia	2/2	OMIM:619689
140801	RPL10L	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
140801	RPL10L	HP:0003251	Male infertility	2/2	OMIM:619689
140803	TRPM6	HP:0001281	Tetany	-	OMIM:602014
140803	TRPM6	HP:0001250	Seizure	2/5	OMIM:602014
140803	TRPM6	HP:0000007	Autosomal recessive inheritance	-	OMIM:602014
140803	TRPM6	HP:0003394	Muscle spasm	-	OMIM:602014
140803	TRPM6	HP:0003593	Infantile onset	5/5	OMIM:602014
140803	TRPM6	HP:0002917	Hypomagnesemia	5/5	OMIM:602014
140803	TRPM6	HP:0002901	Hypocalcemia	5/5	OMIM:602014
142680	SLC34A3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
142680	SLC34A3	HP:0001293	Cranial nerve compression	-	OMIM:131300
142680	SLC34A3	HP:0001288	Gait disturbance	-	OMIM:241530
142680	SLC34A3	HP:0001252	Hypotonia	-	OMIM:241530
142680	SLC34A3	HP:0001252	Hypotonia	2/7	OMIM:615777
142680	SLC34A3	HP:0001249	Intellectual disability	5/7	OMIM:615777
142680	SLC34A3	HP:0001263	Global developmental delay	-	OMIM:615777
142680	SLC34A3	HP:0002515	Waddling gait	54/102	OMIM:131300
142680	SLC34A3	HP:0002515	Waddling gait	HP:0040283	ORPHA:157215
142680	SLC34A3	HP:0001382	Joint hypermobility	-	OMIM:615777
142680	SLC34A3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
142680	SLC34A3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
142680	SLC34A3	HP:0002663	Delayed epiphyseal ossification	-	OMIM:241530
142680	SLC34A3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
142680	SLC34A3	HP:0001324	Muscle weakness	-	OMIM:241530
142680	SLC34A3	HP:0001324	Muscle weakness	40/96	OMIM:131300
142680	SLC34A3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
142680	SLC34A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:241530
142680	SLC34A3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
142680	SLC34A3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
142680	SLC34A3	HP:0002653	Bone pain	-	OMIM:241530
142680	SLC34A3	HP:0002653	Bone pain	HP:0040282	ORPHA:157215
142680	SLC34A3	HP:0002650	Scoliosis	12/14	OMIM:131300
142680	SLC34A3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
142680	SLC34A3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
142680	SLC34A3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
142680	SLC34A3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
142680	SLC34A3	HP:0000175	Cleft palate	2/7	OMIM:615777
142680	SLC34A3	HP:0000117	Renal phosphate wasting	4/4	OMIM:241530
142680	SLC34A3	HP:0000124	Renal tubular dysfunction	-	OMIM:241530
142680	SLC34A3	HP:0002757	Recurrent fractures	-	OMIM:241530
142680	SLC34A3	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:157215
142680	SLC34A3	HP:0002753	Thin bony cortex	-	OMIM:241530
142680	SLC34A3	HP:0002752	Sparse bone trabeculae	-	OMIM:241530
142680	SLC34A3	HP:0002748	Rickets	-	OMIM:241530
142680	SLC34A3	HP:0002749	Osteomalacia	HP:0040282	ORPHA:157215
142680	SLC34A3	HP:0002007	Frontal bossing	-	OMIM:241530
142680	SLC34A3	HP:0003388	Easy fatigability	36/76	OMIM:131300
142680	SLC34A3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
142680	SLC34A3	HP:0002150	Hypercalciuria	5/5	OMIM:241530
142680	SLC34A3	HP:0002150	Hypercalciuria	HP:0040281	ORPHA:157215
142680	SLC34A3	HP:0002148	Hypophosphatemia	7/7	OMIM:241530
142680	SLC34A3	HP:0002148	Hypophosphatemia	HP:0040281	ORPHA:157215
142680	SLC34A3	HP:0010502	Fibular bowing	-	OMIM:241530
142680	SLC34A3	HP:0004724	Calcium nephrolithiasis	-	OMIM:241530
142680	SLC34A3	HP:0003593	Infantile onset	-	OMIM:241530
142680	SLC34A3	HP:0010639	Elevated alkaline phosphatase of bone origin	HP:0040281	ORPHA:157215
142680	SLC34A3	HP:0003510	Severe short stature	7/7	OMIM:615777
142680	SLC34A3	HP:0003698	Difficulty standing	-	OMIM:241530
142680	SLC34A3	HP:0002315	Headache	-	OMIM:131300
142680	SLC34A3	HP:0004976	Knee dislocation	6/7	OMIM:615777
142680	SLC34A3	HP:0009803	Short phalanx of finger	-	OMIM:615777
142680	SLC34A3	HP:0009763	Limb pain	63/92	OMIM:131300
142680	SLC34A3	HP:0003621	Juvenile onset	-	OMIM:131300
142680	SLC34A3	HP:0004912	Hypophosphatemic rickets	HP:0040281	ORPHA:157215
142680	SLC34A3	HP:0004912	Hypophosphatemic rickets	7/7	OMIM:241530
142680	SLC34A3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
142680	SLC34A3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
142680	SLC34A3	HP:0031817	Decreased circulating parathyroid hormone level	HP:0040281	ORPHA:157215
142680	SLC34A3	HP:0031817	Decreased circulating parathyroid hormone level	3/4	OMIM:241530
142680	SLC34A3	HP:6001056	Out-toeing	-	OMIM:131300
142680	SLC34A3	HP:0000651	Diplopia	-	OMIM:131300
142680	SLC34A3	HP:0001956	Truncal obesity	2/7	OMIM:615777
142680	SLC34A3	HP:0001903	Anemia	HP:0040283	OMIM:131300
142680	SLC34A3	HP:0010049	Short metacarpal	-	OMIM:615777
142680	SLC34A3	HP:0000678	Dental crowding	-	OMIM:615777
142680	SLC34A3	HP:0000670	Carious teeth	-	OMIM:131300
142680	SLC34A3	HP:0011304	Broad thumb	2/7	OMIM:615777
142680	SLC34A3	HP:0000668	Hypodontia	-	OMIM:615777
142680	SLC34A3	HP:0000664	Synophrys	-	OMIM:615777
142680	SLC34A3	HP:0004322	Short stature	HP:0040283	ORPHA:157215
142680	SLC34A3	HP:0004396	Poor appetite	-	OMIM:131300
142680	SLC34A3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
142680	SLC34A3	HP:0004363	Abnormal circulating calcium concentration	0/5	OMIM:241530
142680	SLC34A3	HP:0003029	Enlargement of the ankles	-	OMIM:241530
142680	SLC34A3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
142680	SLC34A3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
142680	SLC34A3	HP:0003013	Bulging epiphyses	-	OMIM:241530
142680	SLC34A3	HP:0003026	Short long bone	7/7	OMIM:615777
142680	SLC34A3	HP:0003025	Metaphyseal irregularity	-	OMIM:241530
142680	SLC34A3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
142680	SLC34A3	HP:0003020	Enlargement of the wrists	-	OMIM:241530
142680	SLC34A3	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:157215
142680	SLC34A3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
142680	SLC34A3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
142680	SLC34A3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
142680	SLC34A3	HP:0000750	Delayed speech and language development	-	OMIM:615777
142680	SLC34A3	HP:0011461	Fetal onset	7/7	OMIM:615777
142680	SLC34A3	HP:0000774	Narrow chest	2/7	OMIM:615777
142680	SLC34A3	HP:0000787	Nephrolithiasis	HP:0040282	ORPHA:157215
142680	SLC34A3	HP:0003109	Hyperphosphaturia	HP:0040281	ORPHA:157215
142680	SLC34A3	HP:0000924	Abnormality of the skeletal system	HP:0040282	ORPHA:157215
142680	SLC34A3	HP:0000926	Platyspondyly	1/7	OMIM:615777
142680	SLC34A3	HP:0000920	Enlargement of the costochondral junction	-	OMIM:241530
142680	SLC34A3	HP:0003180	Flat acetabular roof	-	OMIM:615777
142680	SLC34A3	HP:0003155	Elevated circulating alkaline phosphatase concentration	7/7	OMIM:241530
142680	SLC34A3	HP:0004482	Relative macrocephaly	-	OMIM:615777
142680	SLC34A3	HP:0004492	Widely patent fontanelles and sutures	-	OMIM:241530
142680	SLC34A3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
142680	SLC34A3	HP:0000893	Bulging of the costochondral junction	-	OMIM:241530
142680	SLC34A3	HP:0000886	Deformed rib cage	-	OMIM:241530
142680	SLC34A3	HP:0000823	Delayed puberty	-	OMIM:131300
142680	SLC34A3	HP:0000894	Short clavicles	-	OMIM:615777
142680	SLC34A3	HP:0000897	Rachitic rosary	HP:0040283	ORPHA:157215
142680	SLC34A3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
142680	SLC34A3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
142680	SLC34A3	HP:0000286	Epicanthus	1/7	OMIM:615777
142680	SLC34A3	HP:0000280	Coarse facial features	2/7	OMIM:615777
142680	SLC34A3	HP:0031414	High serum calcifediol	0/5	OMIM:241530
142680	SLC34A3	HP:0031415	High serum calcitriol	HP:0040281	ORPHA:157215
142680	SLC34A3	HP:0031415	High serum calcitriol	4/5	OMIM:241530
142680	SLC34A3	HP:0002827	Hip dislocation	3/7	OMIM:615777
142680	SLC34A3	HP:0000252	Microcephaly	-	OMIM:615777
142680	SLC34A3	HP:0002857	Genu valgum	-	OMIM:131300
142680	SLC34A3	HP:0001533	Slender build	-	OMIM:131300
142680	SLC34A3	HP:0001508	Failure to thrive	-	OMIM:241530
142680	SLC34A3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
142680	SLC34A3	HP:0001510	Growth delay	-	OMIM:241530
142680	SLC34A3	HP:0001510	Growth delay	HP:0040282	ORPHA:157215
142680	SLC34A3	HP:0007807	Optic nerve compression	-	OMIM:131300
142680	SLC34A3	HP:0012368	Flat face	7/7	OMIM:615777
142680	SLC34A3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
142680	SLC34A3	HP:0031428	Increased circulating osteocalcin level	HP:0040281	ORPHA:157215
142680	SLC34A3	HP:0000365	Hearing impairment	10/67	OMIM:131300
142680	SLC34A3	HP:0031425	Increased circulating beta-C-terminal telopeptide concentration	HP:0040281	ORPHA:157215
142680	SLC34A3	HP:0000343	Long philtrum	1/7	OMIM:615777
142680	SLC34A3	HP:0011001	Increased bone mineral density	-	OMIM:131300
142680	SLC34A3	HP:0002982	Tibial bowing	-	OMIM:241530
142680	SLC34A3	HP:0002980	Femoral bowing	-	OMIM:241530
142680	SLC34A3	HP:0002979	Bowing of the legs	-	OMIM:241530
142680	SLC34A3	HP:0002979	Bowing of the legs	HP:0040283	ORPHA:157215
142680	SLC34A3	HP:0000311	Round face	2/7	OMIM:615777
142680	SLC34A3	HP:0002970	Genu varum	-	OMIM:615777
142680	SLC34A3	HP:0000303	Mandibular prognathia	-	OMIM:131300
142680	SLC34A3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
142680	SLC34A3	HP:0000470	Short neck	1/7	OMIM:615777
142680	SLC34A3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
142680	SLC34A3	HP:0001763	Pes planus	1/7	OMIM:615777
142680	SLC34A3	HP:0012408	Medullary nephrocalcinosis	HP:0040282	ORPHA:157215
142680	SLC34A3	HP:0005469	Flat occiput	-	OMIM:241530
142680	SLC34A3	HP:0001840	Metatarsus adductus	-	OMIM:615777
142680	SLC34A3	HP:0000520	Proptosis	2/4	OMIM:131300
142680	SLC34A3	HP:0000520	Proptosis	7/7	OMIM:615777
142680	SLC34A3	HP:0000592	Blue sclerae	2/7	OMIM:615777
142680	SLC34A3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
142680	SLC34A3	HP:0012514	Lower limb pain	4/4	OMIM:131300
144132	DNHD1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
144132	DNHD1	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
144132	DNHD1	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
144132	DNHD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619712
144132	DNHD1	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
144132	DNHD1	HP:0032558	Absent sperm flagella	6/6	OMIM:619712
144132	DNHD1	HP:0032559	Short sperm flagella	6/6	OMIM:619712
144132	DNHD1	HP:0032560	Coiled sperm flagella	5/6	OMIM:619712
144132	DNHD1	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
144132	DNHD1	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
144132	DNHD1	HP:0033393	Irregularly shaped sperm tail	6/6	OMIM:619712
144132	DNHD1	HP:0034011	Reduced progressive sperm motility	8/8	OMIM:619712
144132	DNHD1	HP:0011462	Young adult onset	8/8	OMIM:619712
144132	DNHD1	HP:0000798	Oligozoospermia	3/8	OMIM:619712
144132	DNHD1	HP:0012867	Abnormal sperm mid-piece morphology	6/6	OMIM:619712
144132	DNHD1	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
144132	DNHD1	HP:0003251	Male infertility	8/8	OMIM:619712
144132	DNHD1	HP:0012207	Reduced sperm motility	8/8	OMIM:619712
144165	PRICKLE1	HP:0001251	Ataxia	HP:0040282	ORPHA:308
144165	PRICKLE1	HP:0001251	Ataxia	-	OMIM:612437
144165	PRICKLE1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:308
144165	PRICKLE1	HP:0001260	Dysarthria	HP:0040282	ORPHA:308
144165	PRICKLE1	HP:0001260	Dysarthria	-	OMIM:612437
144165	PRICKLE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612437
144165	PRICKLE1	HP:0001337	Tremor	-	OMIM:612437
144165	PRICKLE1	HP:0001336	Myoclonus	-	OMIM:612437
144165	PRICKLE1	HP:0001336	Myoclonus	HP:0040281	ORPHA:308
144165	PRICKLE1	HP:0001310	Dysmetria	-	OMIM:612437
144165	PRICKLE1	HP:0002080	Intention tremor	HP:0040282	ORPHA:308
144165	PRICKLE1	HP:0003390	Sensory axonal neuropathy	-	OMIM:612437
144165	PRICKLE1	HP:0002070	Limb ataxia	HP:0040281	ORPHA:308
144165	PRICKLE1	HP:0003487	Babinski sign	-	OMIM:612437
144165	PRICKLE1	HP:0002123	Generalized myoclonic seizure	-	OMIM:612437
144165	PRICKLE1	HP:0007000	Morning myoclonic jerks	HP:0040281	ORPHA:308
144165	PRICKLE1	HP:0002392	EEG with polyspike wave complexes	HP:0040281	ORPHA:308
144165	PRICKLE1	HP:0003676	Progressive	-	OMIM:612437
144165	PRICKLE1	HP:0010819	Atonic seizure	-	OMIM:612437
144165	PRICKLE1	HP:0003621	Juvenile onset	-	OMIM:612437
144165	PRICKLE1	HP:0000726	Dementia	HP:0040283	ORPHA:308
144165	PRICKLE1	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:308
144245	ALG10B	HP:0001279	Syncope	3/4	OMIM:613688
144245	ALG10B	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
144245	ALG10B	HP:0000006	Autosomal dominant inheritance	-	OMIM:613688
144245	ALG10B	HP:0003581	Adult onset	4/5	OMIM:613688
144245	ALG10B	HP:0011463	Childhood onset	1/4	OMIM:613688
144245	ALG10B	HP:0034303	Notched T wave	3/3	OMIM:613688
144245	ALG10B	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
144245	ALG10B	HP:0005184	Prolonged QTc interval	1/1	OMIM:613688
144245	ALG10B	HP:0001695	Cardiac arrest	1/4	OMIM:613688
144245	ALG10B	HP:0001664	Torsade de pointes	1/46	OMIM:115000
144245	ALG10B	HP:0001664	Torsade de pointes	-	OMIM:613688
144245	ALG10B	HP:0001645	Sudden cardiac death	-	OMIM:115000
144245	ALG10B	HP:0001645	Sudden cardiac death	2/5	OMIM:613688
144245	ALG10B	HP:0001663	Ventricular fibrillation	-	OMIM:115000
144245	ALG10B	HP:0001663	Ventricular fibrillation	-	OMIM:613688
144245	ALG10B	HP:0001657	Prolonged QT interval	4/4	OMIM:613688
144245	ALG10B	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
144245	ALG10B	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
144245	ALG10B	HP:0025708	Early young adult onset	1/1	OMIM:613688
144406	CFAP251	HP:0000007	Autosomal recessive inheritance	-	OMIM:618152
144406	CFAP251	HP:0032558	Absent sperm flagella	6/6	OMIM:618152
144406	CFAP251	HP:0032559	Short sperm flagella	6/6	OMIM:618152
144406	CFAP251	HP:0032560	Coiled sperm flagella	6/6	OMIM:618152
144406	CFAP251	HP:0033393	Irregularly shaped sperm tail	6/6	OMIM:618152
144406	CFAP251	HP:0011462	Young adult onset	7/7	OMIM:618152
144406	CFAP251	HP:0003251	Male infertility	7/7	OMIM:618152
144406	CFAP251	HP:0012207	Reduced sperm motility	7/7	OMIM:618152
144568	A2ML1	HP:0010982	Polygenic inheritance	-	OMIM:166760
144568	A2ML1	HP:0000006	Autosomal dominant inheritance	-	OMIM:166760
144568	A2ML1	HP:0000403	Recurrent otitis media	-	OMIM:166760
144811	LACC1	HP:0032323	Periodic fever	13/13	OMIM:618795
144811	LACC1	HP:0000099	Glomerulonephritis	HP:0040283	ORPHA:85414
144811	LACC1	HP:0001369	Arthritis	HP:0040281	ORPHA:85414
144811	LACC1	HP:0001386	Joint swelling	HP:0040281	ORPHA:85414
144811	LACC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618795
144811	LACC1	HP:0012122	Anterior uveitis	HP:0040283	ORPHA:85414
144811	LACC1	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:85414
144811	LACC1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:85414
144811	LACC1	HP:0003493	Antinuclear antibody positivity	8/13	OMIM:618795
144811	LACC1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:85414
144811	LACC1	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040281	ORPHA:85414
144811	LACC1	HP:0004890	Elevated pulmonary artery pressure	HP:0040283	ORPHA:85414
144811	LACC1	HP:0002202	Pleural effusion	HP:0040283	ORPHA:85414
144811	LACC1	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:85414
144811	LACC1	HP:0001974	Increased total leukocyte count	13/13	OMIM:618795
144811	LACC1	HP:0001945	Fever	HP:0040281	ORPHA:85414
144811	LACC1	HP:0005681	Juvenile rheumatoid arthritis	HP:0040281	ORPHA:85414
144811	LACC1	HP:0011463	Childhood onset	-	OMIM:618795
144811	LACC1	HP:0033087	Quotidian fever	13/13	OMIM:618795
144811	LACC1	HP:0003281	Increased circulating ferritin concentration	HP:0040283	ORPHA:85414
144811	LACC1	HP:0000988	Skin rash	HP:0040281	ORPHA:85414
144811	LACC1	HP:0000988	Skin rash	-	OMIM:618795
144811	LACC1	HP:0000938	Osteopenia	HP:0040283	ORPHA:85414
144811	LACC1	HP:0002829	Arthralgia	HP:0040281	ORPHA:85414
144811	LACC1	HP:0001510	Growth delay	HP:0040283	ORPHA:85414
144811	LACC1	HP:0002960	Autoimmunity	HP:0040281	ORPHA:85414
144811	LACC1	HP:0001701	Pericarditis	HP:0040283	ORPHA:85414
144811	LACC1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:85414
144811	LACC1	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040281	ORPHA:85414
144811	LACC1	HP:0001894	Thrombocytosis	13/13	OMIM:618795
145173	B3GLCT	HP:0001169	Broad palm	49/49	OMIM:261540
145173	B3GLCT	HP:0001156	Brachydactyly	-	OMIM:261540
145173	B3GLCT	HP:0001156	Brachydactyly	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0001159	Syndactyly	-	OMIM:261540
145173	B3GLCT	HP:0008569	Microtia, second degree	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0008569	Microtia, second degree	21/49	OMIM:261540
145173	B3GLCT	HP:0100819	Intestinal fistula	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0001274	Agenesis of corpus callosum	-	OMIM:261540
145173	B3GLCT	HP:0001250	Seizure	-	OMIM:261540
145173	B3GLCT	HP:0001249	Intellectual disability	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0001263	Global developmental delay	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0001263	Global developmental delay	41/49	OMIM:261540
145173	B3GLCT	HP:0008726	Hypoplasia of the vagina	-	OMIM:261540
145173	B3GLCT	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0000089	Renal hypoplasia	-	OMIM:261540
145173	B3GLCT	HP:0000060	Clitoral hypoplasia	-	OMIM:261540
145173	B3GLCT	HP:0000060	Clitoral hypoplasia	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0000059	Hypoplastic labia majora	-	OMIM:261540
145173	B3GLCT	HP:0000073	Ureteral duplication	-	OMIM:261540
145173	B3GLCT	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0000075	Renal duplication	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0001382	Joint hypermobility	-	OMIM:261540
145173	B3GLCT	HP:0000047	Hypospadias	-	OMIM:261540
145173	B3GLCT	HP:0000047	Hypospadias	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0001363	Craniosynostosis	-	OMIM:261540
145173	B3GLCT	HP:0000028	Cryptorchidism	-	OMIM:261540
145173	B3GLCT	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0008897	Postnatal growth retardation	-	OMIM:261540
145173	B3GLCT	HP:0008873	Disproportionate short-limb short stature	20/20	OMIM:261540
145173	B3GLCT	HP:0008873	Disproportionate short-limb short stature	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0008872	Feeding difficulties in infancy	-	OMIM:261540
145173	B3GLCT	HP:0000013	Hypoplasia of the uterus	-	OMIM:261540
145173	B3GLCT	HP:0000013	Hypoplasia of the uterus	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0000007	Autosomal recessive inheritance	-	OMIM:261540
145173	B3GLCT	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0002650	Scoliosis	-	OMIM:261540
145173	B3GLCT	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:261540
145173	B3GLCT	HP:0008905	Rhizomelia	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0008905	Rhizomelia	-	OMIM:261540
145173	B3GLCT	HP:0000175	Cleft palate	7/20	OMIM:261540
145173	B3GLCT	HP:0000175	Cleft palate	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0000154	Wide mouth	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0000126	Hydronephrosis	-	OMIM:261540
145173	B3GLCT	HP:0002023	Anal atresia	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0002000	Short columella	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0002007	Frontal bossing	-	OMIM:261540
145173	B3GLCT	HP:0002007	Frontal bossing	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0002059	Cerebral atrophy	-	OMIM:261540
145173	B3GLCT	HP:0030968	Abnormal pulmonary vein morphology	HP:0040284	ORPHA:709
145173	B3GLCT	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0002119	Ventriculomegaly	-	OMIM:261540
145173	B3GLCT	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0009623	Proximal placement of thumb	-	OMIM:261540
145173	B3GLCT	HP:0002263	Exaggerated cupid's bow	48/49	OMIM:261540
145173	B3GLCT	HP:0002263	Exaggerated cupid's bow	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0002219	Facial hypertrichosis	-	OMIM:261540
145173	B3GLCT	HP:0003561	Birth length less than 3rd percentile	-	OMIM:261540
145173	B3GLCT	HP:0001080	Biliary tract abnormality	-	OMIM:261540
145173	B3GLCT	HP:0010743	Short metatarsal	-	OMIM:261540
145173	B3GLCT	HP:0004209	Clinodactyly of the 5th finger	45/49	OMIM:261540
145173	B3GLCT	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0004279	Short palm	49/49	OMIM:261540
145173	B3GLCT	HP:0006887	Intellectual disability, progressive	-	OMIM:261540
145173	B3GLCT	HP:0000639	Nystagmus	-	OMIM:261540
145173	B3GLCT	HP:0000639	Nystagmus	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0000648	Optic atrophy	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0000612	Iris coloboma	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0000612	Iris coloboma	-	OMIM:261540
145173	B3GLCT	HP:0010049	Short metacarpal	-	OMIM:261540
145173	B3GLCT	HP:0000690	Agenesis of maxillary lateral incisor	-	OMIM:261540
145173	B3GLCT	HP:0000687	Widely spaced teeth	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0000687	Widely spaced teeth	-	OMIM:261540
145173	B3GLCT	HP:0000659	Peters anomaly	51/68	OMIM:261540
145173	B3GLCT	HP:0000659	Peters anomaly	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0004325	Decreased body weight	-	OMIM:261540
145173	B3GLCT	HP:0004322	Short stature	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0005608	Bilobate gallbladder	-	OMIM:261540
145173	B3GLCT	HP:0004383	Hypoplastic left heart	HP:0040284	ORPHA:709
145173	B3GLCT	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0000767	Pectus excavatum	-	OMIM:261540
145173	B3GLCT	HP:0004414	Abnormality of the pulmonary artery	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0003196	Short nose	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0004467	Preauricular pit	18/49	OMIM:261540
145173	B3GLCT	HP:0004467	Preauricular pit	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0000851	Congenital hypothyroidism	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0000830	Anterior hypopituitarism	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0100336	Bilateral cleft lip	3/20	OMIM:261540
145173	B3GLCT	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0003278	Square pelvis bone	-	OMIM:261540
145173	B3GLCT	HP:0000954	Single transverse palmar crease	-	OMIM:261540
145173	B3GLCT	HP:0000960	Sacral dimple	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0045025	Narrow palpebral fissure	38/49	OMIM:261540
145173	B3GLCT	HP:0000260	Wide anterior fontanel	-	OMIM:261540
145173	B3GLCT	HP:0000256	Macrocephaly	4/49	OMIM:261540
145173	B3GLCT	HP:0000276	Long face	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0000276	Long face	-	OMIM:261540
145173	B3GLCT	HP:0000238	Hydrocephalus	-	OMIM:261540
145173	B3GLCT	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0000252	Microcephaly	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0000252	Microcephaly	11/49	OMIM:261540
145173	B3GLCT	HP:0000248	Brachycephaly	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0000219	Thin upper lip vermilion	-	OMIM:261540
145173	B3GLCT	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0001545	Anteriorly placed anus	-	OMIM:261540
145173	B3GLCT	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0001561	Polyhydramnios	-	OMIM:261540
145173	B3GLCT	HP:0000233	Thin vermilion border	-	OMIM:261540
145173	B3GLCT	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0000200	Short lingual frenulum	-	OMIM:261540
145173	B3GLCT	HP:0001540	Diastasis recti	-	OMIM:261540
145173	B3GLCT	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0001537	Umbilical hernia	-	OMIM:261540
145173	B3GLCT	HP:0000204	Cleft upper lip	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0000204	Cleft upper lip	5/20	OMIM:261540
145173	B3GLCT	HP:0001511	Intrauterine growth retardation	43/49	OMIM:261540
145173	B3GLCT	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0007833	Anterior chamber synechiae	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0011065	Conical incisor	-	OMIM:261540
145173	B3GLCT	HP:0000384	Preauricular skin tag	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0002937	Hemivertebrae	-	OMIM:261540
145173	B3GLCT	HP:0005182	Bicuspid pulmonary valve	HP:0040284	ORPHA:709
145173	B3GLCT	HP:0000365	Hearing impairment	-	OMIM:261540
145173	B3GLCT	HP:0000358	Posteriorly rotated ears	-	OMIM:261540
145173	B3GLCT	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0000369	Low-set ears	-	OMIM:261540
145173	B3GLCT	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0000343	Long philtrum	45/49	OMIM:261540
145173	B3GLCT	HP:0000343	Long philtrum	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0002996	Limited elbow movement	-	OMIM:261540
145173	B3GLCT	HP:0000347	Micrognathia	22/49	OMIM:261540
145173	B3GLCT	HP:0000347	Micrognathia	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0002983	Micromelia	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0000316	Hypertelorism	37/49	OMIM:261540
145173	B3GLCT	HP:0000316	Hypertelorism	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0001643	Patent ductus arteriosus	-	OMIM:261540
145173	B3GLCT	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0000311	Round face	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0000311	Round face	-	OMIM:261540
145173	B3GLCT	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0001642	Pulmonic stenosis	-	OMIM:261540
145173	B3GLCT	HP:0000327	Hypoplasia of the maxilla	-	OMIM:261540
145173	B3GLCT	HP:0001629	Ventricular septal defect	-	OMIM:261540
145173	B3GLCT	HP:0001631	Atrial septal defect	-	OMIM:261540
145173	B3GLCT	HP:0007957	Corneal opacity	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0006610	Wide intermamillary distance	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0006610	Wide intermamillary distance	-	OMIM:261540
145173	B3GLCT	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0000402	Stenosis of the external auditory canal	-	OMIM:261540
145173	B3GLCT	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0000480	Retinal coloboma	-	OMIM:261540
145173	B3GLCT	HP:0000482	Microcornea	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0000463	Anteverted nares	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0000475	Broad neck	36/49	OMIM:261540
145173	B3GLCT	HP:0000470	Short neck	-	OMIM:261540
145173	B3GLCT	HP:0000470	Short neck	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0000465	Webbed neck	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0000465	Webbed neck	-	OMIM:261540
145173	B3GLCT	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0001773	Short foot	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0001773	Short foot	-	OMIM:261540
145173	B3GLCT	HP:0001769	Broad foot	-	OMIM:261540
145173	B3GLCT	HP:0000411	Protruding ear	-	OMIM:261540
145173	B3GLCT	HP:0001761	Pes cavus	-	OMIM:261540
145173	B3GLCT	HP:0000518	Cataract	-	OMIM:261540
145173	B3GLCT	HP:0000518	Cataract	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0000508	Ptosis	-	OMIM:261540
145173	B3GLCT	HP:0000505	Visual impairment	HP:0040283	ORPHA:709
145173	B3GLCT	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0000501	Glaucoma	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0000501	Glaucoma	-	OMIM:261540
145173	B3GLCT	HP:0001831	Short toe	-	OMIM:261540
145173	B3GLCT	HP:0001831	Short toe	HP:0040281	ORPHA:709
145173	B3GLCT	HP:0000582	Upslanted palpebral fissure	17/49	OMIM:261540
145173	B3GLCT	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0011220	Prominent forehead	HP:0040282	ORPHA:709
145173	B3GLCT	HP:0011220	Prominent forehead	34/49	OMIM:261540
145173	B3GLCT	HP:0000545	Myopia	-	OMIM:261540
145226	RDH12	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
145226	RDH12	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
145226	RDH12	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
145226	RDH12	HP:0001270	Motor delay	HP:0040283	ORPHA:65
145226	RDH12	HP:0001250	Seizure	HP:0040282	ORPHA:65
145226	RDH12	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
145226	RDH12	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
145226	RDH12	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
145226	RDH12	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
145226	RDH12	HP:0000007	Autosomal recessive inheritance	-	OMIM:612712
145226	RDH12	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
145226	RDH12	HP:0000006	Autosomal dominant inheritance	-	OMIM:612712
145226	RDH12	HP:0001483	Eye poking	HP:0040282	ORPHA:65
145226	RDH12	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
145226	RDH12	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
145226	RDH12	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
145226	RDH12	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
145226	RDH12	HP:0007663	Reduced visual acuity	-	OMIM:612712
145226	RDH12	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
145226	RDH12	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
145226	RDH12	HP:0003621	Juvenile onset	8/19	OMIM:180100
145226	RDH12	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
145226	RDH12	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
145226	RDH12	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
145226	RDH12	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
145226	RDH12	HP:0000618	Blindness	HP:0040281	ORPHA:791
145226	RDH12	HP:0000613	Photophobia	HP:0040282	ORPHA:65
145226	RDH12	HP:0000613	Photophobia	HP:0040281	ORPHA:791
145226	RDH12	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
145226	RDH12	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
145226	RDH12	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
145226	RDH12	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
145226	RDH12	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
145226	RDH12	HP:0000662	Nyctalopia	26/28	OMIM:180100
145226	RDH12	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
145226	RDH12	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
145226	RDH12	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
145226	RDH12	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
145226	RDH12	HP:0011463	Childhood onset	3/19	OMIM:180100
145226	RDH12	HP:0011463	Childhood onset	-	OMIM:612712
145226	RDH12	HP:0011462	Young adult onset	8/19	OMIM:180100
145226	RDH12	HP:0030786	Photopsia	HP:0040283	ORPHA:791
145226	RDH12	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
145226	RDH12	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
145226	RDH12	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
145226	RDH12	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
145226	RDH12	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
145226	RDH12	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
145226	RDH12	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
145226	RDH12	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
145226	RDH12	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:612712
145226	RDH12	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
145226	RDH12	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:612712
145226	RDH12	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
145226	RDH12	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
145226	RDH12	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
145226	RDH12	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
145226	RDH12	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
145226	RDH12	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
145226	RDH12	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
145226	RDH12	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
145226	RDH12	HP:0000518	Cataract	HP:0040282	ORPHA:65
145226	RDH12	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
145226	RDH12	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
145226	RDH12	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
145226	RDH12	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
145226	RDH12	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
145226	RDH12	HP:0000575	Scotoma	5/18	OMIM:180100
145226	RDH12	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
145226	RDH12	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
145226	RDH12	HP:0000556	Retinal dystrophy	-	OMIM:612712
145226	RDH12	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
145226	RDH12	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
145226	RDH12	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
145226	RDH12	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
145226	RDH12	HP:0000543	Optic disc pallor	-	OMIM:612712
145226	RDH12	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
145226	RDH12	HP:0000543	Optic disc pallor	1/1	OMIM:180100
145226	RDH12	HP:0000545	Myopia	-	OMIM:180100
145258	GSC	HP:0020206	Simple ear	4/4	OMIM:602471
145258	GSC	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
145258	GSC	HP:0001293	Cranial nerve compression	-	OMIM:131300
145258	GSC	HP:0001252	Hypotonia	2/7	OMIM:615777
145258	GSC	HP:0001249	Intellectual disability	0/4	OMIM:602471
145258	GSC	HP:0001249	Intellectual disability	5/7	OMIM:615777
145258	GSC	HP:0001263	Global developmental delay	-	OMIM:615777
145258	GSC	HP:0002515	Waddling gait	54/102	OMIM:131300
145258	GSC	HP:0001382	Joint hypermobility	-	OMIM:615777
145258	GSC	HP:0002694	Sclerosis of skull base	-	OMIM:131300
145258	GSC	HP:0000028	Cryptorchidism	2/2	OMIM:602471
145258	GSC	HP:0008897	Postnatal growth retardation	-	OMIM:615777
145258	GSC	HP:0008785	Delayed ossification of pubic rami	4/4	OMIM:602471
145258	GSC	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
145258	GSC	HP:0001324	Muscle weakness	40/96	OMIM:131300
145258	GSC	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
145258	GSC	HP:0000007	Autosomal recessive inheritance	-	OMIM:602471
145258	GSC	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
145258	GSC	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
145258	GSC	HP:0002650	Scoliosis	12/14	OMIM:131300
145258	GSC	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
145258	GSC	HP:0002643	Neonatal respiratory distress	1/4	OMIM:602471
145258	GSC	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
145258	GSC	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
145258	GSC	HP:0008905	Rhizomelia	4/4	OMIM:602471
145258	GSC	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
145258	GSC	HP:0000160	Narrow mouth	1/4	OMIM:602471
145258	GSC	HP:0000175	Cleft palate	2/7	OMIM:615777
145258	GSC	HP:0003375	Narrow greater sciatic notch	4/4	OMIM:602471
145258	GSC	HP:0003388	Easy fatigability	36/76	OMIM:131300
145258	GSC	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
145258	GSC	HP:0003577	Congenital onset	4/4	OMIM:602471
145258	GSC	HP:0011968	Feeding difficulties	3/4	OMIM:602471
145258	GSC	HP:0003510	Severe short stature	7/7	OMIM:615777
145258	GSC	HP:0002315	Headache	-	OMIM:131300
145258	GSC	HP:0004976	Knee dislocation	6/7	OMIM:615777
145258	GSC	HP:0009803	Short phalanx of finger	-	OMIM:615777
145258	GSC	HP:0009763	Limb pain	63/92	OMIM:131300
145258	GSC	HP:0003621	Juvenile onset	-	OMIM:131300
145258	GSC	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
145258	GSC	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
145258	GSC	HP:6001056	Out-toeing	-	OMIM:131300
145258	GSC	HP:0000651	Diplopia	-	OMIM:131300
145258	GSC	HP:0001956	Truncal obesity	2/7	OMIM:615777
145258	GSC	HP:0000601	Hypotelorism	-	OMIM:602471
145258	GSC	HP:0001903	Anemia	HP:0040283	OMIM:131300
145258	GSC	HP:0010049	Short metacarpal	-	OMIM:615777
145258	GSC	HP:0000678	Dental crowding	-	OMIM:615777
145258	GSC	HP:0000670	Carious teeth	-	OMIM:131300
145258	GSC	HP:0011304	Broad thumb	2/7	OMIM:615777
145258	GSC	HP:0000668	Hypodontia	-	OMIM:615777
145258	GSC	HP:0000664	Synophrys	-	OMIM:615777
145258	GSC	HP:0004322	Short stature	4/4	OMIM:602471
145258	GSC	HP:0003083	Dislocated radial head	2/3	OMIM:602471
145258	GSC	HP:0004396	Poor appetite	-	OMIM:131300
145258	GSC	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
145258	GSC	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
145258	GSC	HP:0003015	Flared metaphysis	3/4	OMIM:602471
145258	GSC	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
145258	GSC	HP:0003026	Short long bone	7/7	OMIM:615777
145258	GSC	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
145258	GSC	HP:0003022	Hypoplasia of the ulna	2/4	OMIM:602471
145258	GSC	HP:0000767	Pectus excavatum	2/7	OMIM:615777
145258	GSC	HP:0000768	Pectus carinatum	1/7	OMIM:615777
145258	GSC	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
145258	GSC	HP:0000750	Delayed speech and language development	-	OMIM:615777
145258	GSC	HP:0011461	Fetal onset	7/7	OMIM:615777
145258	GSC	HP:0000774	Narrow chest	2/7	OMIM:615777
145258	GSC	HP:0000926	Platyspondyly	1/7	OMIM:615777
145258	GSC	HP:0003180	Flat acetabular roof	-	OMIM:615777
145258	GSC	HP:0004482	Relative macrocephaly	-	OMIM:615777
145258	GSC	HP:0004467	Preauricular pit	2/4	OMIM:602471
145258	GSC	HP:0005792	Short humerus	3/4	OMIM:602471
145258	GSC	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
145258	GSC	HP:0000882	Hypoplastic scapulae	1/4	OMIM:602471
145258	GSC	HP:0000823	Delayed puberty	-	OMIM:131300
145258	GSC	HP:0000894	Short clavicles	-	OMIM:615777
145258	GSC	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
145258	GSC	HP:0034392	Joint contracture	1/4	OMIM:602471
145258	GSC	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
145258	GSC	HP:0000286	Epicanthus	1/7	OMIM:615777
145258	GSC	HP:0000280	Coarse facial features	2/7	OMIM:615777
145258	GSC	HP:0000272	Malar flattening	2/4	OMIM:602471
145258	GSC	HP:0002827	Hip dislocation	4/4	OMIM:602471
145258	GSC	HP:0002827	Hip dislocation	3/7	OMIM:615777
145258	GSC	HP:0000252	Microcephaly	2/4	OMIM:602471
145258	GSC	HP:0000252	Microcephaly	-	OMIM:615777
145258	GSC	HP:0000218	High palate	2/3	OMIM:602471
145258	GSC	HP:0002857	Genu valgum	-	OMIM:131300
145258	GSC	HP:0001533	Slender build	-	OMIM:131300
145258	GSC	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
145258	GSC	HP:0007807	Optic nerve compression	-	OMIM:131300
145258	GSC	HP:0012368	Flat face	7/7	OMIM:615777
145258	GSC	HP:0006595	Scapulohumeral synostosis	4/4	OMIM:602471
145258	GSC	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
145258	GSC	HP:0002938	Lumbar hyperlordosis	2/4	OMIM:602471
145258	GSC	HP:0000365	Hearing impairment	10/67	OMIM:131300
145258	GSC	HP:0000343	Long philtrum	1/7	OMIM:615777
145258	GSC	HP:0011001	Increased bone mineral density	-	OMIM:131300
145258	GSC	HP:0000347	Micrognathia	4/4	OMIM:602471
145258	GSC	HP:0000311	Round face	2/7	OMIM:615777
145258	GSC	HP:0002970	Genu varum	-	OMIM:615777
145258	GSC	HP:0000303	Mandibular prognathia	-	OMIM:131300
145258	GSC	HP:0000405	Conductive hearing impairment	4/4	OMIM:602471
145258	GSC	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
145258	GSC	HP:0000494	Downslanted palpebral fissures	1/4	OMIM:602471
145258	GSC	HP:0000490	Deeply set eye	-	OMIM:602471
145258	GSC	HP:0000470	Short neck	1/7	OMIM:615777
145258	GSC	HP:0001769	Broad foot	HP:0040283	OMIM:615777
145258	GSC	HP:0001763	Pes planus	1/7	OMIM:615777
145258	GSC	HP:0000413	Atresia of the external auditory canal	4/4	OMIM:602471
145258	GSC	HP:0001762	Talipes equinovarus	3/4	OMIM:602471
145258	GSC	HP:0001840	Metatarsus adductus	-	OMIM:615777
145258	GSC	HP:0000520	Proptosis	2/4	OMIM:131300
145258	GSC	HP:0000520	Proptosis	7/7	OMIM:615777
145258	GSC	HP:0000592	Blue sclerae	2/7	OMIM:615777
145258	GSC	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
145258	GSC	HP:0012514	Lower limb pain	4/4	OMIM:131300
145624	PWAR1	HP:0001159	Syndactyly	HP:0040283	OMIM:176270
145624	PWAR1	HP:0007328	Impaired pain sensation	HP:0040282	OMIM:176270
145624	PWAR1	HP:0003745	Sporadic	-	OMIM:176270
145624	PWAR1	HP:0001290	Generalized hypotonia	HP:0040281	OMIM:176270
145624	PWAR1	HP:0001270	Motor delay	HP:0040281	OMIM:176270
145624	PWAR1	HP:0001250	Seizure	31/154	OMIM:176270
145624	PWAR1	HP:0001249	Intellectual disability	12/12	OMIM:176270
145624	PWAR1	HP:0002591	Polyphagia	105/165	OMIM:176270
145624	PWAR1	HP:0001263	Global developmental delay	HP:0040281	OMIM:176270
145624	PWAR1	HP:0001262	Excessive daytime somnolence	8/12	OMIM:176270
145624	PWAR1	HP:0000064	Hypoplastic labia minora	HP:0040282	OMIM:176270
145624	PWAR1	HP:0000060	Clitoral hypoplasia	HP:0040282	OMIM:176270
145624	PWAR1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	OMIM:176270
145624	PWAR1	HP:0000046	Small scrotum	-	OMIM:176270
145624	PWAR1	HP:0000054	Micropenis	HP:0040282	OMIM:176270
145624	PWAR1	HP:0001385	Hip dysplasia	27/90	OMIM:176270
145624	PWAR1	HP:0000028	Cryptorchidism	118/130	OMIM:176270
145624	PWAR1	HP:0008872	Feeding difficulties in infancy	HP:0040281	OMIM:176270
145624	PWAR1	HP:0007513	Generalized hypopigmentation	-	OMIM:176270
145624	PWAR1	HP:0001328	Specific learning disability	HP:0040281	OMIM:176270
145624	PWAR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:176270
145624	PWAR1	HP:0002650	Scoliosis	150/180	OMIM:176270
145624	PWAR1	HP:0001319	Neonatal hypotonia	244/244	OMIM:176270
145624	PWAR1	HP:0002791	Hypoventilation	-	OMIM:176270
145624	PWAR1	HP:0002714	Downturned corners of mouth	HP:0040282	OMIM:176270
145624	PWAR1	HP:0002033	Poor suck	HP:0040281	OMIM:176270
145624	PWAR1	HP:0005968	Temperature instability	HP:0040283	OMIM:176270
145624	PWAR1	HP:0005978	Type II diabetes mellitus	12/82	OMIM:176270
145624	PWAR1	HP:0030919	Low 5-minute APGAR score	14/244	OMIM:176270
145624	PWAR1	HP:0030918	Low 1-minute APGAR score	55/244	OMIM:176270
145624	PWAR1	HP:0009466	Radial deviation of finger	HP:0040283	OMIM:176270
145624	PWAR1	HP:0002155	Hypertriglyceridemia	10/66	OMIM:176270
145624	PWAR1	HP:0002119	Ventriculomegaly	HP:0040282	OMIM:176270
145624	PWAR1	HP:0010535	Sleep apnea	HP:0040282	OMIM:176270
145624	PWAR1	HP:0003577	Congenital onset	98/244	OMIM:176270
145624	PWAR1	HP:0002236	Frontal upsweep of hair	HP:0040283	OMIM:176270
145624	PWAR1	HP:0100716	Self-injurious behavior	50/62	OMIM:176270
145624	PWAR1	HP:0002205	Recurrent respiratory infections	HP:0040282	OMIM:176270
145624	PWAR1	HP:0007010	Poor fine motor coordination	HP:0040283	OMIM:176270
145624	PWAR1	HP:0007015	Poor gross motor coordination	-	OMIM:176270
145624	PWAR1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	OMIM:176270
145624	PWAR1	HP:0002360	Sleep abnormality	HP:0040282	OMIM:176270
145624	PWAR1	HP:0200055	Small hand	-	OMIM:176270
145624	PWAR1	HP:0033454	Tube feeding	216/244	OMIM:176270
145624	PWAR1	HP:0031878	Acromicria	-	OMIM:176270
145624	PWAR1	HP:0004283	Narrow palm	HP:0040281	OMIM:176270
145624	PWAR1	HP:0004279	Short palm	HP:0040281	OMIM:176270
145624	PWAR1	HP:0000670	Carious teeth	HP:0040283	OMIM:176270
145624	PWAR1	HP:0004322	Short stature	HP:0040281	OMIM:176270
145624	PWAR1	HP:0012743	Abdominal obesity	-	OMIM:176270
145624	PWAR1	HP:0000750	Delayed speech and language development	HP:0040281	OMIM:176270
145624	PWAR1	HP:0000717	Autism	210/786	OMIM:176270
145624	PWAR1	HP:0000709	Psychosis	18/92	OMIM:176270
145624	PWAR1	HP:0000708	Atypical behavior	HP:0040282	OMIM:176270
145624	PWAR1	HP:0011461	Fetal onset	146/244	OMIM:176270
145624	PWAR1	HP:0000789	Infertility	HP:0040281	OMIM:176270
145624	PWAR1	HP:0000786	Primary amenorrhea	1/7	OMIM:176270
145624	PWAR1	HP:0003124	Hypercholesterolemia	42/66	OMIM:176270
145624	PWAR1	HP:0003199	Decreased muscle mass	HP:0040282	OMIM:176270
145624	PWAR1	HP:0000876	Oligomenorrhea	HP:0040282	OMIM:176270
145624	PWAR1	HP:0000846	Adrenal insufficiency	1/82	OMIM:176270
145624	PWAR1	HP:0000842	Hyperinsulinemia	-	OMIM:176270
145624	PWAR1	HP:0000826	Precocious puberty	-	OMIM:176270
145624	PWAR1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040281	OMIM:176270
145624	PWAR1	HP:0000823	Delayed puberty	HP:0040282	OMIM:176270
145624	PWAR1	HP:0003233	Decreased HDL cholesterol concentration	23/66	OMIM:176270
145624	PWAR1	HP:0003241	External genital hypoplasia	HP:0040281	OMIM:176270
145624	PWAR1	HP:0000992	Cutaneous photosensitivity	HP:0040282	OMIM:176270
145624	PWAR1	HP:0000969	Edema	9/12	OMIM:176270
145624	PWAR1	HP:0000939	Osteoporosis	2/12	OMIM:176270
145624	PWAR1	HP:0000938	Osteopenia	HP:0040283	OMIM:176270
145624	PWAR1	HP:0000268	Dolichocephaly	-	OMIM:176270
145624	PWAR1	HP:0030084	Clinodactyly	-	OMIM:176270
145624	PWAR1	HP:0002808	Kyphosis	HP:0040282	OMIM:176270
145624	PWAR1	HP:0000219	Thin upper lip vermilion	15/20	OMIM:176270
145624	PWAR1	HP:0001562	Oligohydramnios	16/244	OMIM:176270
145624	PWAR1	HP:0001561	Polyhydramnios	57/244	OMIM:176270
145624	PWAR1	HP:0001558	Decreased fetal movement	146/244	OMIM:176270
145624	PWAR1	HP:0025501	Class III obesity	90/165	OMIM:176270
145624	PWAR1	HP:0001531	Failure to thrive in infancy	HP:0040281	OMIM:176270
145624	PWAR1	HP:0002857	Genu valgum	-	OMIM:176270
145624	PWAR1	HP:0001511	Intrauterine growth retardation	50/244	OMIM:176270
145624	PWAR1	HP:0001513	Obesity	85/180	OMIM:176270
145624	PWAR1	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	OMIM:176270
145624	PWAR1	HP:0001611	Hypernasal speech	HP:0040282	OMIM:176270
145624	PWAR1	HP:0000341	Narrow forehead	HP:0040282	OMIM:176270
145624	PWAR1	HP:0001623	Breech presentation	70/244	OMIM:176270
145624	PWAR1	HP:0000486	Strabismus	-	OMIM:176270
145624	PWAR1	HP:0012450	Chronic constipation	5/12	OMIM:176270
145624	PWAR1	HP:0001773	Short foot	HP:0040281	OMIM:176270
145624	PWAR1	HP:0000446	Narrow nasal bridge	HP:0040282	OMIM:176270
145624	PWAR1	HP:0000582	Upslanted palpebral fissure	HP:0040283	OMIM:176270
145624	PWAR1	HP:0000565	Esotropia	HP:0040283	OMIM:176270
145624	PWAR1	HP:0000540	Hypermetropia	-	OMIM:176270
145624	PWAR1	HP:0000545	Myopia	HP:0040283	OMIM:176270
145645	TERB2	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
145645	TERB2	HP:0031038	Spermatogenesis maturation arrest	1/1	OMIM:619645
145645	TERB2	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
145645	TERB2	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
145645	TERB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619645
145645	TERB2	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
145645	TERB2	HP:0011961	Non-obstructive azoospermia	3/3	OMIM:619645
145645	TERB2	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
145645	TERB2	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
145645	TERB2	HP:0011462	Young adult onset	3/3	OMIM:619645
145645	TERB2	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
145645	TERB2	HP:0003251	Male infertility	3/3	OMIM:619645
145873	MESP2	HP:0002435	Meningocele	HP:0040283	ORPHA:2311
145873	MESP2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
145873	MESP2	HP:0001293	Cranial nerve compression	-	OMIM:131300
145873	MESP2	HP:0001252	Hypotonia	2/7	OMIM:615777
145873	MESP2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2311
145873	MESP2	HP:0001249	Intellectual disability	5/7	OMIM:615777
145873	MESP2	HP:0001263	Global developmental delay	-	OMIM:615777
145873	MESP2	HP:6000652	Rib spur	-	OMIM:277300
145873	MESP2	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:2311
145873	MESP2	HP:0010978	Abnormality of immune system physiology	HP:0040281	ORPHA:2311
145873	MESP2	HP:0002515	Waddling gait	54/102	OMIM:131300
145873	MESP2	HP:0000069	Abnormality of the ureter	HP:0040283	ORPHA:2311
145873	MESP2	HP:0001382	Joint hypermobility	-	OMIM:615777
145873	MESP2	HP:0000047	Hypospadias	HP:0040283	ORPHA:2311
145873	MESP2	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2311
145873	MESP2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
145873	MESP2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2311
145873	MESP2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
145873	MESP2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
145873	MESP2	HP:0001324	Muscle weakness	40/96	OMIM:131300
145873	MESP2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
145873	MESP2	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:2311
145873	MESP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:277300
145873	MESP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:608681
145873	MESP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
145873	MESP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
145873	MESP2	HP:0002650	Scoliosis	HP:0040281	ORPHA:2311
145873	MESP2	HP:0002650	Scoliosis	12/14	OMIM:131300
145873	MESP2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
145873	MESP2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
145873	MESP2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
145873	MESP2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
145873	MESP2	HP:0000175	Cleft palate	HP:0040283	ORPHA:2311
145873	MESP2	HP:0000175	Cleft palate	2/7	OMIM:615777
145873	MESP2	HP:0002751	Kyphoscoliosis	14/15	OMIM:277300
145873	MESP2	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:2311
145873	MESP2	HP:0003310	Abnormal odontoid process morphology	-	OMIM:277300
145873	MESP2	HP:0003305	Block vertebrae	-	OMIM:277300
145873	MESP2	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2311
145873	MESP2	HP:0002091	Restrictive ventilatory defect	44%	OMIM:608681
145873	MESP2	HP:0003388	Easy fatigability	36/76	OMIM:131300
145873	MESP2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
145873	MESP2	HP:0100589	Urogenital fistula	HP:0040283	ORPHA:2311
145873	MESP2	HP:0003422	Vertebral segmentation defect	12/13	OMIM:277300
145873	MESP2	HP:0003422	Vertebral segmentation defect	-	OMIM:608681
145873	MESP2	HP:0003422	Vertebral segmentation defect	HP:0040281	ORPHA:2311
145873	MESP2	HP:0003418	Back pain	3/4	OMIM:277300
145873	MESP2	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2311
145873	MESP2	HP:0002205	Recurrent respiratory infections	-	OMIM:608681
145873	MESP2	HP:0002205	Recurrent respiratory infections	-	OMIM:277300
145873	MESP2	HP:0003510	Severe short stature	-	OMIM:277300
145873	MESP2	HP:0003510	Severe short stature	7/7	OMIM:615777
145873	MESP2	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:277300
145873	MESP2	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:608681
145873	MESP2	HP:0002315	Headache	-	OMIM:131300
145873	MESP2	HP:0004976	Knee dislocation	6/7	OMIM:615777
145873	MESP2	HP:0009803	Short phalanx of finger	-	OMIM:615777
145873	MESP2	HP:0010772	Anomalous pulmonary venous return	HP:0040283	ORPHA:2311
145873	MESP2	HP:0009763	Limb pain	63/92	OMIM:131300
145873	MESP2	HP:0008428	Vertebral clefting	-	OMIM:608681
145873	MESP2	HP:0003621	Juvenile onset	-	OMIM:131300
145873	MESP2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
145873	MESP2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
145873	MESP2	HP:6001056	Out-toeing	-	OMIM:131300
145873	MESP2	HP:0000651	Diplopia	-	OMIM:131300
145873	MESP2	HP:0001956	Truncal obesity	2/7	OMIM:615777
145873	MESP2	HP:0001903	Anemia	HP:0040283	OMIM:131300
145873	MESP2	HP:0010049	Short metacarpal	-	OMIM:615777
145873	MESP2	HP:0000678	Dental crowding	-	OMIM:615777
145873	MESP2	HP:0000670	Carious teeth	-	OMIM:131300
145873	MESP2	HP:0011304	Broad thumb	2/7	OMIM:615777
145873	MESP2	HP:0000668	Hypodontia	-	OMIM:615777
145873	MESP2	HP:0000664	Synophrys	-	OMIM:615777
145873	MESP2	HP:0004322	Short stature	3/3	OMIM:277300
145873	MESP2	HP:0004322	Short stature	HP:0040281	ORPHA:2311
145873	MESP2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2311
145873	MESP2	HP:0004396	Poor appetite	-	OMIM:131300
145873	MESP2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
145873	MESP2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
145873	MESP2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
145873	MESP2	HP:0003026	Short long bone	7/7	OMIM:615777
145873	MESP2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
145873	MESP2	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:2311
145873	MESP2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
145873	MESP2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
145873	MESP2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
145873	MESP2	HP:0000750	Delayed speech and language development	-	OMIM:615777
145873	MESP2	HP:0011461	Fetal onset	2/2	OMIM:277300
145873	MESP2	HP:0011461	Fetal onset	7/7	OMIM:615777
145873	MESP2	HP:0000774	Narrow chest	2/7	OMIM:615777
145873	MESP2	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:2311
145873	MESP2	HP:0000926	Platyspondyly	1/7	OMIM:615777
145873	MESP2	HP:0003180	Flat acetabular roof	-	OMIM:615777
145873	MESP2	HP:0000902	Rib fusion	HP:0040281	ORPHA:2311
145873	MESP2	HP:0000902	Rib fusion	2/2	OMIM:277300
145873	MESP2	HP:0000902	Rib fusion	-	OMIM:608681
145873	MESP2	HP:0004482	Relative macrocephaly	-	OMIM:615777
145873	MESP2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
145873	MESP2	HP:0000823	Delayed puberty	-	OMIM:131300
145873	MESP2	HP:0000894	Short clavicles	-	OMIM:615777
145873	MESP2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
145873	MESP2	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:2311
145873	MESP2	HP:0003270	Abdominal distention	-	OMIM:277300
145873	MESP2	HP:0010306	Short thorax	HP:0040281	ORPHA:2311
145873	MESP2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
145873	MESP2	HP:0000286	Epicanthus	1/7	OMIM:615777
145873	MESP2	HP:0000280	Coarse facial features	2/7	OMIM:615777
145873	MESP2	HP:0000256	Macrocephaly	HP:0040283	ORPHA:2311
145873	MESP2	HP:0000269	Prominent occiput	HP:0040283	ORPHA:2311
145873	MESP2	HP:0005108	Abnormal intervertebral disk morphology	HP:0040281	ORPHA:2311
145873	MESP2	HP:0002827	Hip dislocation	3/7	OMIM:615777
145873	MESP2	HP:0002808	Kyphosis	HP:0040282	ORPHA:2311
145873	MESP2	HP:0000252	Microcephaly	HP:0040283	ORPHA:2311
145873	MESP2	HP:0000252	Microcephaly	-	OMIM:615777
145873	MESP2	HP:0002857	Genu valgum	-	OMIM:131300
145873	MESP2	HP:0001522	Death in infancy	-	OMIM:277300
145873	MESP2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2311
145873	MESP2	HP:0001538	Protuberant abdomen	2/2	OMIM:277300
145873	MESP2	HP:0001533	Slender build	-	OMIM:131300
145873	MESP2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2311
145873	MESP2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
145873	MESP2	HP:0007807	Optic nerve compression	-	OMIM:131300
145873	MESP2	HP:0012368	Flat face	7/7	OMIM:615777
145873	MESP2	HP:0002937	Hemivertebrae	2/3	OMIM:277300
145873	MESP2	HP:0002937	Hemivertebrae	-	OMIM:608681
145873	MESP2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
145873	MESP2	HP:0002948	Vertebral fusion	4/5	OMIM:277300
145873	MESP2	HP:0000365	Hearing impairment	10/67	OMIM:131300
145873	MESP2	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:2311
145873	MESP2	HP:0000343	Long philtrum	HP:0040283	ORPHA:2311
145873	MESP2	HP:0000343	Long philtrum	1/7	OMIM:615777
145873	MESP2	HP:0011001	Increased bone mineral density	-	OMIM:131300
145873	MESP2	HP:0000337	Broad forehead	HP:0040283	ORPHA:2311
145873	MESP2	HP:0000311	Round face	2/7	OMIM:615777
145873	MESP2	HP:0002970	Genu varum	-	OMIM:615777
145873	MESP2	HP:0000303	Mandibular prognathia	-	OMIM:131300
145873	MESP2	HP:0006655	Rib segmentation abnormalities	HP:0040281	ORPHA:2311
145873	MESP2	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:2311
145873	MESP2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
145873	MESP2	HP:0000476	Cystic hygroma	1/2	OMIM:277300
145873	MESP2	HP:0000463	Anteverted nares	HP:0040283	ORPHA:2311
145873	MESP2	HP:0000470	Short neck	-	OMIM:608681
145873	MESP2	HP:0000470	Short neck	14/15	OMIM:277300
145873	MESP2	HP:0000470	Short neck	HP:0040281	ORPHA:2311
145873	MESP2	HP:0000470	Short neck	1/7	OMIM:615777
145873	MESP2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
145873	MESP2	HP:0001763	Pes planus	1/7	OMIM:615777
145873	MESP2	HP:0001840	Metatarsus adductus	-	OMIM:615777
145873	MESP2	HP:0000520	Proptosis	2/4	OMIM:131300
145873	MESP2	HP:0000520	Proptosis	7/7	OMIM:615777
145873	MESP2	HP:0000592	Blue sclerae	2/7	OMIM:615777
145873	MESP2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
145873	MESP2	HP:0012514	Lower limb pain	4/4	OMIM:131300
146057	TTBK2	HP:0007256	Abnormal pyramidal sign	HP:0040284	ORPHA:98767
146057	TTBK2	HP:0001272	Cerebellar atrophy	9/9	OMIM:604432
146057	TTBK2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:98767
146057	TTBK2	HP:0001260	Dysarthria	21/21	OMIM:604432
146057	TTBK2	HP:0001260	Dysarthria	HP:0040281	ORPHA:98767
146057	TTBK2	HP:0001347	Hyperreflexia	18/18	OMIM:604432
146057	TTBK2	HP:0001332	Dystonia	HP:0040284	ORPHA:98767
146057	TTBK2	HP:0000006	Autosomal dominant inheritance	-	OMIM:604432
146057	TTBK2	HP:0002015	Dysphagia	HP:0040281	ORPHA:98767
146057	TTBK2	HP:0002066	Gait ataxia	21/21	OMIM:604432
146057	TTBK2	HP:0002078	Truncal ataxia	18/18	OMIM:604432
146057	TTBK2	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:98767
146057	TTBK2	HP:0002073	Progressive cerebellar ataxia	21/21	OMIM:604432
146057	TTBK2	HP:0002070	Limb ataxia	20/21	OMIM:604432
146057	TTBK2	HP:0002141	Gait imbalance	HP:0040281	ORPHA:98767
146057	TTBK2	HP:0002141	Gait imbalance	-	OMIM:604432
146057	TTBK2	HP:0010544	Vertical nystagmus	HP:0040281	ORPHA:98767
146057	TTBK2	HP:0003584	Late onset	1/20	OMIM:604432
146057	TTBK2	HP:0009830	Peripheral neuropathy	HP:0040284	ORPHA:98767
146057	TTBK2	HP:0003621	Juvenile onset	7/20	OMIM:604432
146057	TTBK2	HP:0000639	Nystagmus	18/18	OMIM:604432
146057	TTBK2	HP:0000666	Horizontal nystagmus	HP:0040281	ORPHA:98767
146057	TTBK2	HP:0011462	Young adult onset	12/20	OMIM:604432
146057	TTBK2	HP:0008003	Jerky ocular pursuit movements	18/18	OMIM:604432
146057	TTBK2	HP:0008003	Jerky ocular pursuit movements	HP:0040281	ORPHA:98767
146059	CDAN1	HP:0001159	Syndactyly	HP:0040283	OMIM:224120
146059	CDAN1	HP:0010972	Anemia of inadequate production	-	OMIM:224120
146059	CDAN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:224120
146059	CDAN1	HP:0012132	Erythroid hyperplasia	1/1	OMIM:224120
146059	CDAN1	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:224120
146059	CDAN1	HP:0003352	Endopolyploidy on chromosome studies of bone marrow	-	OMIM:224120
146059	CDAN1	HP:0003577	Congenital onset	1/1	OMIM:224120
146059	CDAN1	HP:0002240	Hepatomegaly	1/1	OMIM:224120
146059	CDAN1	HP:0003655	Reduced level of N-acetylglucosaminyltransferase II	-	OMIM:224120
146059	CDAN1	HP:0020122	Bite cells	1/1	OMIM:224120
146059	CDAN1	HP:0005532	Macrocytic dyserythropoietic anemia	-	OMIM:224120
146059	CDAN1	HP:0001981	Schistocytosis	1/1	OMIM:224120
146059	CDAN1	HP:0001923	Reticulocytosis	-	OMIM:224120
146059	CDAN1	HP:0004447	Poikilocytosis	-	OMIM:224120
146059	CDAN1	HP:0001530	Mild postnatal growth retardation	-	OMIM:224120
146059	CDAN1	HP:0001518	Small for gestational age	1/1	OMIM:224120
146059	CDAN1	HP:0006579	Prolonged neonatal jaundice	-	OMIM:224120
146059	CDAN1	HP:0002904	Hyperbilirubinemia	1/1	OMIM:224120
146059	CDAN1	HP:0001789	Hydrops fetalis	-	OMIM:224120
146059	CDAN1	HP:0001744	Splenomegaly	-	OMIM:224120
146059	CDAN1	HP:0011273	Anisocytosis	-	OMIM:224120
146059	CDAN1	HP:0001878	Hemolytic anemia	1/1	OMIM:224120
146167	SLC38A8	HP:0001137	Alternating esotropia	HP:0040283	OMIM:609218
146167	SLC38A8	HP:0000007	Autosomal recessive inheritance	-	OMIM:609218
146167	SLC38A8	HP:0001492	Axenfeld anomaly	HP:0040283	OMIM:609218
146167	SLC38A8	HP:0007663	Reduced visual acuity	9/9	OMIM:609218
146167	SLC38A8	HP:0003593	Infantile onset	9/9	OMIM:609218
146167	SLC38A8	HP:0000639	Nystagmus	9/9	OMIM:609218
146167	SLC38A8	HP:0000627	Posterior embryotoxon	HP:0040283	OMIM:609218
146167	SLC38A8	HP:0008001	Foveal hyperpigmentation	-	OMIM:609218
146167	SLC38A8	HP:0025551	Optic nerve misrouting	-	OMIM:609218
146167	SLC38A8	HP:0007750	Hypoplasia of the fovea	9/9	OMIM:609218
146167	SLC38A8	HP:0000483	Astigmatism	9/9	OMIM:609218
146167	SLC38A8	HP:0000486	Strabismus	6/9	OMIM:609218
146167	SLC38A8	HP:0000568	Microphthalmia	HP:0040283	OMIM:609218
146183	OTOA	HP:0000007	Autosomal recessive inheritance	-	OMIM:607039
146183	OTOA	HP:0000407	Sensorineural hearing impairment	-	OMIM:607039
146206	CARMIL2	HP:0100838	Recurrent cutaneous abscess formation	7/7	OMIM:618131
146206	CARMIL2	HP:0002583	Colitis	1/7	OMIM:618131
146206	CARMIL2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618131
146206	CARMIL2	HP:0410135	Cold urticaria	1/6	OMIM:618131
146206	CARMIL2	HP:0031292	Cutaneous abscess	1/4	OMIM:618131
146206	CARMIL2	HP:0002788	Recurrent upper respiratory tract infections	2/4	OMIM:618131
146206	CARMIL2	HP:0002728	Chronic mucocutaneous candidiasis	3/6	OMIM:618131
146206	CARMIL2	HP:0002028	Chronic diarrhea	4/15	OMIM:618131
146206	CARMIL2	HP:0002015	Dysphagia	5/7	OMIM:618131
146206	CARMIL2	HP:0002099	Asthma	8/17	OMIM:618131
146206	CARMIL2	HP:0003394	Muscle spasm	3/4	OMIM:618131
146206	CARMIL2	HP:0100518	Dysuria	2/4	OMIM:618131
146206	CARMIL2	HP:0002110	Bronchiectasis	6/13	OMIM:618131
146206	CARMIL2	HP:0003593	Infantile onset	1/7	OMIM:618131
146206	CARMIL2	HP:0002205	Recurrent respiratory infections	11/17	OMIM:618131
146206	CARMIL2	HP:0001051	Seborrheic dermatitis	1/6	OMIM:618131
146206	CARMIL2	HP:0001075	Atrophic scars	-	OMIM:618131
146206	CARMIL2	HP:0200043	Verrucae	8/15	OMIM:618131
146206	CARMIL2	HP:0100633	Esophagitis	5/7	OMIM:618131
146206	CARMIL2	HP:0032140	Decreased specific antibody response to vaccination	-	OMIM:618131
146206	CARMIL2	HP:0032163	Molluscum contagiosum	4/10	OMIM:618131
146206	CARMIL2	HP:0003623	Neonatal onset	1/7	OMIM:618131
146206	CARMIL2	HP:0004322	Short stature	1/4	OMIM:618131
146206	CARMIL2	HP:0004313	Decreased circulating immunoglobulin concentration	1/4	OMIM:618131
146206	CARMIL2	HP:0011463	Childhood onset	5/7	OMIM:618131
146206	CARMIL2	HP:0003193	Allergic rhinitis	1/7	OMIM:618131
146206	CARMIL2	HP:0004469	Chronic bronchitis	1/6	OMIM:618131
146206	CARMIL2	HP:0000992	Cutaneous photosensitivity	2/4	OMIM:618131
146206	CARMIL2	HP:0000964	Eczematoid dermatitis	11/15	OMIM:618131
146206	CARMIL2	HP:0008064	Ichthyosis	1/6	OMIM:618131
146206	CARMIL2	HP:0040189	Scaling skin	3/6	OMIM:618131
146206	CARMIL2	HP:0025526	Psoriasiform lesion	4/4	OMIM:618131
146206	CARMIL2	HP:0012203	Onychomycosis	1/6	OMIM:618131
146206	CARMIL2	HP:0001508	Failure to thrive	4/4	OMIM:618131
146206	CARMIL2	HP:0006510	Chronic pulmonary obstruction	2/4	OMIM:618131
146206	CARMIL2	HP:0012378	Fatigue	2/4	OMIM:618131
146206	CARMIL2	HP:0000389	Chronic otitis media	2/7	OMIM:618131
146206	CARMIL2	HP:0006532	Recurrent pneumonia	2/4	OMIM:618131
146206	CARMIL2	HP:0005202	Helicobacter pylori infection	1/6	OMIM:618131
146206	CARMIL2	HP:0011107	Recurrent aphthous stomatitis	3/4	OMIM:618131
146206	CARMIL2	HP:0001742	Nasal congestion	3/4	OMIM:618131
146206	CARMIL2	HP:0005419	Decreased T cell activation	-	OMIM:618131
146227	BEAN1	HP:0002495	Impaired vibratory sensation	HP:0040283	ORPHA:217012
146227	BEAN1	HP:0001272	Cerebellar atrophy	HP:0040281	ORPHA:217012
146227	BEAN1	HP:0001272	Cerebellar atrophy	-	OMIM:117210
146227	BEAN1	HP:0001251	Ataxia	-	OMIM:117210
146227	BEAN1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:217012
146227	BEAN1	HP:0001260	Dysarthria	HP:0040281	ORPHA:217012
146227	BEAN1	HP:0001260	Dysarthria	-	OMIM:117210
146227	BEAN1	HP:0001257	Spasticity	HP:0040283	ORPHA:217012
146227	BEAN1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:217012
146227	BEAN1	HP:0001337	Tremor	HP:0040283	ORPHA:217012
146227	BEAN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:117210
146227	BEAN1	HP:0002066	Gait ataxia	-	OMIM:117210
146227	BEAN1	HP:0002066	Gait ataxia	HP:0040281	ORPHA:217012
146227	BEAN1	HP:0002070	Limb ataxia	-	OMIM:117210
146227	BEAN1	HP:0003584	Late onset	HP:0040282	OMIM:117210
146227	BEAN1	HP:0006801	Hyperactive deep tendon reflexes	HP:0040283	ORPHA:217012
146227	BEAN1	HP:0000639	Nystagmus	HP:0040282	ORPHA:217012
146227	BEAN1	HP:0000639	Nystagmus	-	OMIM:117210
146227	BEAN1	HP:0000365	Hearing impairment	HP:0040283	ORPHA:217012
146227	BEAN1	HP:0007979	Gaze-evoked horizontal nystagmus	HP:0040282	OMIM:117210
146227	BEAN1	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:117210
146754	DNAH2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619094
146754	DNAH2	HP:0032558	Absent sperm flagella	4/4	OMIM:619094
146754	DNAH2	HP:0032559	Short sperm flagella	4/4	OMIM:619094
146754	DNAH2	HP:0032560	Coiled sperm flagella	4/4	OMIM:619094
146754	DNAH2	HP:0003251	Male infertility	4/4	OMIM:619094
146754	DNAH2	HP:0012207	Reduced sperm motility	4/4	OMIM:619094
146845	CFAP52	HP:0000007	Autosomal recessive inheritance	-	OMIM:619607
146845	CFAP52	HP:0003363	Abdominal situs inversus	2/2	OMIM:619607
146845	CFAP52	HP:0012735	Cough	1/1	OMIM:619607
146845	CFAP52	HP:0003251	Male infertility	1/1	OMIM:619607
146845	CFAP52	HP:0033036	Decreased nasal nitric oxide	1/6	OMIM:619607
146845	CFAP52	HP:0001696	Situs inversus totalis	4/4	OMIM:619607
146845	CFAP52	HP:0001651	Dextrocardia	1/2	OMIM:619607
146845	CFAP52	HP:0000403	Recurrent otitis media	2/2	OMIM:619607
146845	CFAP52	HP:0011109	Chronic sinusitis	3/3	OMIM:619607
146862	UNC45B	HP:0020203	Z-band streaming	1/1	OMIM:619178
146862	UNC45B	HP:0003724	Shoulder girdle muscle atrophy	1/10	OMIM:619178
146862	UNC45B	HP:0003701	Proximal muscle weakness	9/10	OMIM:619178
146862	UNC45B	HP:0003700	Generalized amyotrophy	1/10	OMIM:619178
146862	UNC45B	HP:0032341	Reduced forced vital capacity	1/1	OMIM:619178
146862	UNC45B	HP:0003803	Type 1 muscle fiber predominance	6/8	OMIM:619178
146862	UNC45B	HP:0008872	Feeding difficulties in infancy	1/1	OMIM:619178
146862	UNC45B	HP:0000006	Autosomal dominant inheritance	-	OMIM:616279
146862	UNC45B	HP:0000006	Autosomal dominant inheritance	-	OMIM:619178
146862	UNC45B	HP:0008981	Calf muscle hypertrophy	5/10	OMIM:619178
146862	UNC45B	HP:0003327	Axial muscle weakness	3/10	OMIM:619178
146862	UNC45B	HP:0002015	Dysphagia	3/10	OMIM:619178
146862	UNC45B	HP:0003391	Gowers sign	1/1	OMIM:619178
146862	UNC45B	HP:0003458	EMG: myopathic abnormalities	5/10	OMIM:619178
146862	UNC45B	HP:0003593	Infantile onset	1/10	OMIM:619178
146862	UNC45B	HP:0003577	Congenital onset	2/10	OMIM:619178
146862	UNC45B	HP:0003557	Increased variability in muscle fiber diameter	5/9	OMIM:619178
146862	UNC45B	HP:0034635	Muscle fiber granulofilamentous inclusion bodies	2/8	OMIM:619178
146862	UNC45B	HP:0003687	Centrally nucleated skeletal muscle fibers	1/1	OMIM:619178
146862	UNC45B	HP:0011463	Childhood onset	7/10	OMIM:619178
146862	UNC45B	HP:0007787	Posterior subcapsular cataract	9/9	OMIM:616279
146862	UNC45B	HP:0001558	Decreased fetal movement	1/1	OMIM:619178
146862	UNC45B	HP:0025502	Overweight	1/1	OMIM:619178
146862	UNC45B	HP:0012378	Fatigue	2/10	OMIM:619178
146862	UNC45B	HP:0001611	Hypernasal speech	1/1	OMIM:619178
146862	UNC45B	HP:0001680	Coarctation of aorta	2/10	OMIM:619178
147007	VMA12	HP:0001252	Hypotonia	1/7	OMIM:616829
147007	VMA12	HP:0001263	Global developmental delay	1/7	OMIM:616829
147007	VMA12	HP:0001397	Hepatic steatosis	5/5	OMIM:616829
147007	VMA12	HP:0001395	Hepatic fibrosis	5/7	OMIM:616829
147007	VMA12	HP:0025321	Copper accumulation in liver	3/3	OMIM:616829
147007	VMA12	HP:0000007	Autosomal recessive inheritance	-	OMIM:616829
147007	VMA12	HP:0001410	Decreased liver function	-	OMIM:616829
147007	VMA12	HP:0003593	Infantile onset	2/7	OMIM:616829
147007	VMA12	HP:0002240	Hepatomegaly	3/7	OMIM:616829
147007	VMA12	HP:0011967	Decreased circulating copper concentration	3/3	OMIM:616829
147007	VMA12	HP:0010837	Decreased circulating ceruloplasmin concentration	7/7	OMIM:616829
147007	VMA12	HP:0003621	Juvenile onset	3/4	OMIM:616829
147007	VMA12	HP:0031956	Elevated circulating aspartate aminotransferase concentration	7/7	OMIM:616829
147007	VMA12	HP:0031964	Elevated circulating alanine aminotransferase concentration	7/7	OMIM:616829
147007	VMA12	HP:0011463	Childhood onset	2/3	OMIM:616829
147007	VMA12	HP:0003124	Hypercholesterolemia	6/7	OMIM:616829
147007	VMA12	HP:0003155	Elevated circulating alkaline phosphatase concentration	7/7	OMIM:616829
147007	VMA12	HP:0003141	Increased LDL cholesterol concentration	6/7	OMIM:616829
147007	VMA12	HP:0003236	Elevated circulating creatine kinase concentration	3/3	OMIM:616829
147007	VMA12	HP:0012358	Abnormal protein O-linked glycosylation	3/4	OMIM:616829
147007	VMA12	HP:0002910	Elevated circulating hepatic transaminase concentration	4/4	OMIM:616829
147007	VMA12	HP:0012347	Abnormal protein N-linked glycosylation	4/4	OMIM:616829
147007	VMA12	HP:0012301	Type II transferrin isoform profile	7/7	OMIM:616829
147138	TMC8	HP:0007565	Multiple cafe-au-lait spots	HP:0040282	ORPHA:302
147138	TMC8	HP:0000007	Autosomal recessive inheritance	-	OMIM:618231
147138	TMC8	HP:0002715	Abnormality of the immune system	HP:0040281	ORPHA:302
147138	TMC8	HP:0550004	Verruca plana	4/4	OMIM:618231
147138	TMC8	HP:0100585	Telangiectasia of the skin	HP:0040283	ORPHA:302
147138	TMC8	HP:0001051	Seborrheic dermatitis	HP:0040281	ORPHA:302
147138	TMC8	HP:0001053	Hypopigmented skin patches	HP:0040282	ORPHA:302
147138	TMC8	HP:0200035	Skin plaque	HP:0040281	ORPHA:302
147138	TMC8	HP:0200034	Papule	HP:0040281	ORPHA:302
147138	TMC8	HP:0200039	Pustule	HP:0040281	ORPHA:302
147138	TMC8	HP:0200043	Verrucae	HP:0040281	ORPHA:302
147138	TMC8	HP:0020114	Persistent human papillomavirus infection	-	OMIM:618231
147138	TMC8	HP:0001581	Recurrent skin infections	HP:0040281	ORPHA:302
147138	TMC8	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:302
147138	TMC8	HP:0006739	Squamous cell carcinoma of the skin	1/4	OMIM:618231
147183	KRT25	HP:0009886	Trichorrhexis nodosa	-	OMIM:616760
147183	KRT25	HP:0000007	Autosomal recessive inheritance	-	OMIM:616760
147183	KRT25	HP:0002224	Woolly hair	HP:0040281	ORPHA:170
147183	KRT25	HP:0002217	Slow-growing hair	HP:0040282	ORPHA:170
147183	KRT25	HP:0002231	Sparse body hair	HP:0040283	ORPHA:170
147183	KRT25	HP:0002212	Curly hair	-	OMIM:616760
147183	KRT25	HP:0002213	Fine hair	HP:0040281	ORPHA:170
147183	KRT25	HP:0002213	Fine hair	-	OMIM:616760
147183	KRT25	HP:0002209	Sparse scalp hair	-	OMIM:616760
147183	KRT25	HP:0010719	Abnormality of hair texture	HP:0040281	ORPHA:170
147183	KRT25	HP:0002299	Brittle hair	HP:0040281	ORPHA:170
147183	KRT25	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:170
147183	KRT25	HP:0000615	Abnormal pupil morphology	HP:0040283	ORPHA:170
147183	KRT25	HP:0000653	Sparse eyelashes	-	OMIM:616760
147183	KRT25	HP:0008070	Sparse hair	-	OMIM:616760
147183	KRT25	HP:0005338	Sparse lateral eyebrow	HP:0040283	ORPHA:170
147183	KRT25	HP:0000486	Strabismus	HP:0040283	ORPHA:170
147183	KRT25	HP:0000479	Abnormal retinal morphology	HP:0040283	ORPHA:170
147183	KRT25	HP:0000518	Cataract	HP:0040283	ORPHA:170
147372	CCBE1	HP:0100835	Benign neoplasm of the central nervous system	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0001250	Seizure	-	OMIM:235510
147372	CCBE1	HP:0001250	Seizure	HP:0040282	ORPHA:2136
147372	CCBE1	HP:0001249	Intellectual disability	-	OMIM:235510
147372	CCBE1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2136
147372	CCBE1	HP:0002593	Intestinal lymphangiectasia	7/7	OMIM:235510
147372	CCBE1	HP:0001263	Global developmental delay	1/7	OMIM:235510
147372	CCBE1	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0000086	Ectopic kidney	-	OMIM:235510
147372	CCBE1	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0000085	Horseshoe kidney	-	OMIM:235510
147372	CCBE1	HP:0000076	Vesicoureteral reflux	-	OMIM:235510
147372	CCBE1	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0000028	Cryptorchidism	-	OMIM:235510
147372	CCBE1	HP:0000007	Autosomal recessive inheritance	-	OMIM:235510
147372	CCBE1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
147372	CCBE1	HP:0001302	Pachygyria	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0001302	Pachygyria	-	OMIM:235510
147372	CCBE1	HP:0002650	Scoliosis	-	OMIM:235510
147372	CCBE1	HP:0002619	Varicose veins	-	OMIM:153400
147372	CCBE1	HP:0000189	Narrow palate	-	OMIM:235510
147372	CCBE1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0000160	Narrow mouth	-	OMIM:235510
147372	CCBE1	HP:0000175	Cleft palate	5/39	OMIM:153400
147372	CCBE1	HP:0007598	Bilateral single transverse palmar creases	-	OMIM:235510
147372	CCBE1	HP:0000126	Hydronephrosis	-	OMIM:235510
147372	CCBE1	HP:0002750	Delayed skeletal maturation	-	OMIM:235510
147372	CCBE1	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:2136
147372	CCBE1	HP:0002024	Malabsorption	HP:0040281	ORPHA:2136
147372	CCBE1	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0002035	Rectal prolapse	-	OMIM:235510
147372	CCBE1	HP:0100539	Periorbital edema	-	OMIM:235510
147372	CCBE1	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0009473	Joint contracture of the hand	-	OMIM:235510
147372	CCBE1	HP:0002194	Delayed gross motor development	1/7	OMIM:235510
147372	CCBE1	HP:0100490	Camptodactyly of finger	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0010554	Cutaneous finger syndactyly	-	OMIM:235510
147372	CCBE1	HP:0008229	Thyroid lymphangiectasia	-	OMIM:235510
147372	CCBE1	HP:0011830	Abnormal oral mucosa morphology	HP:0040282	ORPHA:2136
147372	CCBE1	HP:0002243	Protein-losing enteropathy	-	OMIM:235510
147372	CCBE1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
147372	CCBE1	HP:0002215	Sparse axillary hair	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0002202	Pleural effusion	-	OMIM:235510
147372	CCBE1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:2136
147372	CCBE1	HP:0100764	Lymphangioma	HP:0040281	ORPHA:2136
147372	CCBE1	HP:0009743	Distichiasis	42/42	OMIM:153400
147372	CCBE1	HP:0001055	Erysipelas	HP:0040282	ORPHA:2136
147372	CCBE1	HP:0001055	Erysipelas	-	OMIM:235510
147372	CCBE1	HP:0001004	Lymphedema	HP:0040281	ORPHA:2136
147372	CCBE1	HP:0001004	Lymphedema	7/7	OMIM:235510
147372	CCBE1	HP:0001004	Lymphedema	-	OMIM:153400
147372	CCBE1	HP:0001007	Hirsutism	-	OMIM:235510
147372	CCBE1	HP:0100658	Cellulitis	2/6	OMIM:153400
147372	CCBE1	HP:0009804	Tooth agenesis	HP:0040281	ORPHA:2136
147372	CCBE1	HP:0200055	Small hand	-	OMIM:235510
147372	CCBE1	HP:0004279	Short palm	-	OMIM:235510
147372	CCBE1	HP:0000613	Photophobia	10/49	OMIM:153400
147372	CCBE1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
147372	CCBE1	HP:0000684	Delayed eruption of teeth	HP:0040281	ORPHA:2136
147372	CCBE1	HP:0000684	Delayed eruption of teeth	-	OMIM:235510
147372	CCBE1	HP:0000677	Oligodontia	-	OMIM:235510
147372	CCBE1	HP:0000656	Ectropion	2/43	OMIM:153400
147372	CCBE1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:2136
147372	CCBE1	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040281	ORPHA:2136
147372	CCBE1	HP:0003073	Hypoalbuminemia	-	OMIM:235510
147372	CCBE1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
147372	CCBE1	HP:0000752	Hyperactivity	-	OMIM:235510
147372	CCBE1	HP:0000767	Pectus excavatum	-	OMIM:235510
147372	CCBE1	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0000774	Narrow chest	HP:0040282	ORPHA:2136
147372	CCBE1	HP:0004440	Coronal craniosynostosis	-	OMIM:235510
147372	CCBE1	HP:0012804	Corneal ulceration	-	OMIM:153400
147372	CCBE1	HP:0003298	Spina bifida occulta	-	OMIM:235510
147372	CCBE1	HP:0010310	Chylothorax	1/6	OMIM:153400
147372	CCBE1	HP:0010310	Chylothorax	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0011675	Arrhythmia	-	OMIM:153400
147372	CCBE1	HP:0000286	Epicanthus	HP:0040282	ORPHA:2136
147372	CCBE1	HP:0000286	Epicanthus	-	OMIM:235510
147372	CCBE1	HP:0000278	Retrognathia	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0000278	Retrognathia	-	OMIM:235510
147372	CCBE1	HP:0000272	Malar flattening	-	OMIM:235510
147372	CCBE1	HP:0002808	Kyphosis	2/5	OMIM:153400
147372	CCBE1	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:2136
147372	CCBE1	HP:0000212	Gingival overgrowth	-	OMIM:235510
147372	CCBE1	HP:0001530	Mild postnatal growth retardation	HP:0040281	ORPHA:2136
147372	CCBE1	HP:0001530	Mild postnatal growth retardation	-	OMIM:235510
147372	CCBE1	HP:0001541	Ascites	HP:0040282	ORPHA:2136
147372	CCBE1	HP:0001537	Umbilical hernia	-	OMIM:235510
147372	CCBE1	HP:0002866	Hypoplastic iliac wing	-	OMIM:235510
147372	CCBE1	HP:0000204	Cleft upper lip	-	OMIM:153400
147372	CCBE1	HP:0011069	Supernumerary tooth	HP:0040281	ORPHA:2136
147372	CCBE1	HP:0011065	Conical incisor	-	OMIM:235510
147372	CCBE1	HP:0012385	Camptodactyly	-	OMIM:235510
147372	CCBE1	HP:0012368	Flat face	HP:0040281	ORPHA:2136
147372	CCBE1	HP:0012368	Flat face	7/7	OMIM:235510
147372	CCBE1	HP:0000377	Abnormal pinna morphology	HP:0040281	ORPHA:2136
147372	CCBE1	HP:0006531	Pleural lymphangiectasia	4/7	OMIM:235510
147372	CCBE1	HP:0006521	Pulmonary lymphangiectasia	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0006521	Pulmonary lymphangiectasia	6/7	OMIM:235510
147372	CCBE1	HP:0005183	Pericardial lymphangiectasia	-	OMIM:235510
147372	CCBE1	HP:0002901	Hypocalcemia	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0006482	Abnormal dental morphology	HP:0040281	ORPHA:2136
147372	CCBE1	HP:0001698	Pericardial effusion	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0001698	Pericardial effusion	-	OMIM:235510
147372	CCBE1	HP:0000369	Low-set ears	HP:0040281	ORPHA:2136
147372	CCBE1	HP:0000369	Low-set ears	-	OMIM:235510
147372	CCBE1	HP:0000337	Broad forehead	HP:0040282	ORPHA:2136
147372	CCBE1	HP:0000337	Broad forehead	-	OMIM:235510
147372	CCBE1	HP:0000347	Micrognathia	2/5	OMIM:153400
147372	CCBE1	HP:0000319	Smooth philtrum	-	OMIM:235510
147372	CCBE1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2136
147372	CCBE1	HP:0000316	Hypertelorism	7/7	OMIM:235510
147372	CCBE1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
147372	CCBE1	HP:0000322	Short philtrum	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0001629	Ventricular septal defect	1/7	OMIM:235510
147372	CCBE1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
147372	CCBE1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
147372	CCBE1	HP:0001631	Atrial septal defect	-	OMIM:235510
147372	CCBE1	HP:0000407	Sensorineural hearing impairment	-	OMIM:235510
147372	CCBE1	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0000405	Conductive hearing impairment	-	OMIM:235510
147372	CCBE1	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:2136
147372	CCBE1	HP:0005280	Depressed nasal bridge	7/7	OMIM:235510
147372	CCBE1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
147372	CCBE1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
147372	CCBE1	HP:0001790	Nonimmune hydrops fetalis	1/7	OMIM:235510
147372	CCBE1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
147372	CCBE1	HP:0001789	Hydrops fetalis	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0000465	Webbed neck	6/43	OMIM:153400
147372	CCBE1	HP:0001773	Short foot	-	OMIM:235510
147372	CCBE1	HP:0001744	Splenomegaly	HP:0040282	ORPHA:2136
147372	CCBE1	HP:0001760	Abnormal foot morphology	HP:0040283	ORPHA:2136
147372	CCBE1	HP:0001762	Talipes equinovarus	-	OMIM:235510
147372	CCBE1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:2136
147372	CCBE1	HP:0000431	Wide nasal bridge	-	OMIM:235510
147372	CCBE1	HP:0000509	Conjunctivitis	-	OMIM:153400
147372	CCBE1	HP:0000508	Ptosis	2/39	OMIM:153400
147372	CCBE1	HP:0000501	Glaucoma	HP:0040282	ORPHA:2136
147372	CCBE1	HP:0000501	Glaucoma	1/7	OMIM:235510
147372	CCBE1	HP:0001888	Decreased total lymphocyte count	HP:0040281	ORPHA:2136
147372	CCBE1	HP:0000568	Microphthalmia	1/6	OMIM:153400
147409	DSG4	HP:0003777	Pili torti	HP:0040283	OMIM:607903
147409	DSG4	HP:0001249	Intellectual disability	HP:0040283	ORPHA:573
147409	DSG4	HP:0007502	Follicular hyperkeratosis	HP:0040281	ORPHA:573
147409	DSG4	HP:0007502	Follicular hyperkeratosis	1/6	OMIM:607903
147409	DSG4	HP:0000007	Autosomal recessive inheritance	-	OMIM:607903
147409	DSG4	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:573
147409	DSG4	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:573
147409	DSG4	HP:0003577	Congenital onset	6/6	OMIM:607903
147409	DSG4	HP:0002217	Slow-growing hair	HP:0040281	ORPHA:573
147409	DSG4	HP:0002232	Patchy alopecia	HP:0040281	ORPHA:573
147409	DSG4	HP:0002231	Sparse body hair	HP:0040281	ORPHA:55654
147409	DSG4	HP:0002213	Fine hair	HP:0040281	ORPHA:573
147409	DSG4	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:55654
147409	DSG4	HP:0002299	Brittle hair	HP:0040281	ORPHA:573
147409	DSG4	HP:0002299	Brittle hair	6/6	OMIM:607903
147409	DSG4	HP:0100753	Schizophrenia	HP:0040283	ORPHA:573
147409	DSG4	HP:0010783	Erythema	1/6	OMIM:607903
147409	DSG4	HP:0000653	Sparse eyelashes	HP:0040281	ORPHA:55654
147409	DSG4	HP:0000653	Sparse eyelashes	2/6	OMIM:607903
147409	DSG4	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:55654
147409	DSG4	HP:0045075	Sparse eyebrow	2/6	OMIM:607903
147409	DSG4	HP:0000989	Pruritus	6/6	OMIM:607903
147409	DSG4	HP:0008070	Sparse hair	6/6	OMIM:607903
147409	DSG4	HP:0008070	Sparse hair	HP:0040281	ORPHA:573
147409	DSG4	HP:0008070	Sparse hair	HP:0040282	ORPHA:55654
147409	DSG4	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:573
147409	DSG4	HP:0001596	Alopecia	HP:0040281	ORPHA:55654
147409	DSG4	HP:0000499	Abnormal eyelash morphology	HP:0040281	ORPHA:573
147409	DSG4	HP:0000518	Cataract	HP:0040283	ORPHA:573
147409	DSG4	HP:0000534	Abnormal eyebrow morphology	HP:0040281	ORPHA:573
147495	APCDD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:605389
147495	APCDD1	HP:0000164	Abnormality of the dentition	0/19	OMIM:605389
147495	APCDD1	HP:0002215	Sparse axillary hair	-	OMIM:605389
147495	APCDD1	HP:0002231	Sparse body hair	-	OMIM:605389
147495	APCDD1	HP:0002231	Sparse body hair	HP:0040281	ORPHA:55654
147495	APCDD1	HP:0002225	Sparse pubic hair	-	OMIM:605389
147495	APCDD1	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:55654
147495	APCDD1	HP:0000653	Sparse eyelashes	0/19	OMIM:605389
147495	APCDD1	HP:0000653	Sparse eyelashes	HP:0040281	ORPHA:55654
147495	APCDD1	HP:0011463	Childhood onset	-	OMIM:605389
147495	APCDD1	HP:0045075	Sparse eyebrow	0/19	OMIM:605389
147495	APCDD1	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:55654
147495	APCDD1	HP:0000951	Abnormality of the skin	0/19	OMIM:605389
147495	APCDD1	HP:0008070	Sparse hair	19/19	OMIM:605389
147495	APCDD1	HP:0008070	Sparse hair	HP:0040282	ORPHA:55654
147495	APCDD1	HP:0001597	Abnormal nail morphology	0/19	OMIM:605389
147495	APCDD1	HP:0001596	Alopecia	HP:0040281	ORPHA:55654
147872	KASH5	HP:0031039	Spermatocyte maturation arrest	2/2	OMIM:620547
147872	KASH5	HP:0000007	Autosomal recessive inheritance	-	OMIM:620548
147872	KASH5	HP:0000007	Autosomal recessive inheritance	-	OMIM:620547
147872	KASH5	HP:0031103	Decreased circulating antimullerian hormone circulation	2/2	OMIM:620548
147872	KASH5	HP:0008232	Elevated circulating follicle stimulating hormone level	2/2	OMIM:620548
147872	KASH5	HP:0008222	Female infertility	1/1	OMIM:620548
147872	KASH5	HP:0008209	Premature ovarian insufficiency	2/2	OMIM:620548
147872	KASH5	HP:0011961	Non-obstructive azoospermia	3/3	OMIM:620547
147872	KASH5	HP:0011462	Young adult onset	2/2	OMIM:620548
147872	KASH5	HP:0011462	Young adult onset	2/2	OMIM:620547
147872	KASH5	HP:0000869	Secondary amenorrhea	2/2	OMIM:620548
147872	KASH5	HP:0003251	Male infertility	3/3	OMIM:620547
147872	KASH5	HP:0025708	Early young adult onset	1/1	OMIM:620548
147912	SIX5	HP:0008586	Hypoplasia of the cochlea	HP:0040282	ORPHA:107
147912	SIX5	HP:0008551	Microtia	HP:0040283	ORPHA:107
147912	SIX5	HP:0008678	Renal hypoplasia/aplasia	HP:0040282	ORPHA:107
147912	SIX5	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:107
147912	SIX5	HP:0000083	Renal insufficiency	-	OMIM:610896
147912	SIX5	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:107
147912	SIX5	HP:0000074	Ureteropelvic junction obstruction	HP:0040283	ORPHA:107
147912	SIX5	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:107
147912	SIX5	HP:0000006	Autosomal dominant inheritance	-	OMIM:610896
147912	SIX5	HP:0000175	Cleft palate	HP:0040283	ORPHA:107
147912	SIX5	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:107
147912	SIX5	HP:0000110	Renal dysplasia	-	OMIM:610896
147912	SIX5	HP:0100581	Dilatation of renal calices	HP:0040283	ORPHA:107
147912	SIX5	HP:0010628	Facial palsy	HP:0040283	ORPHA:107
147912	SIX5	HP:0009794	Branchial anomaly	HP:0040282	ORPHA:107
147912	SIX5	HP:0009796	Branchial cyst	HP:0040282	ORPHA:107
147912	SIX5	HP:0009798	Euthyroid goiter	HP:0040283	ORPHA:107
147912	SIX5	HP:0011388	Enlarged cochlear aqueduct	HP:0040282	ORPHA:107
147912	SIX5	HP:0011395	Aplasia/Hypoplasia of the cochlea	HP:0040282	ORPHA:107
147912	SIX5	HP:0011387	Enlarged vestibular aqueduct	HP:0040282	ORPHA:107
147912	SIX5	HP:0011332	Hemifacial hypoplasia	-	OMIM:610896
147912	SIX5	HP:0011481	Abnormal lacrimal duct morphology	HP:0040283	ORPHA:107
147912	SIX5	HP:0004452	Abnormality of the middle ear ossicles	HP:0040282	ORPHA:107
147912	SIX5	HP:0040106	Abnormal lateral semicircular canal morphology	HP:0040283	ORPHA:107
147912	SIX5	HP:0004467	Preauricular pit	HP:0040281	ORPHA:107
147912	SIX5	HP:0100274	Gustatory lacrimation	HP:0040283	ORPHA:107
147912	SIX5	HP:0100272	Branchial sinus	HP:0040282	ORPHA:107
147912	SIX5	HP:0000278	Retrognathia	HP:0040283	ORPHA:107
147912	SIX5	HP:0000384	Preauricular skin tag	-	OMIM:610896
147912	SIX5	HP:0000384	Preauricular skin tag	HP:0040282	ORPHA:107
147912	SIX5	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:107
147912	SIX5	HP:0000394	Lop ear	HP:0040282	ORPHA:107
147912	SIX5	HP:0000365	Hearing impairment	HP:0040281	ORPHA:107
147912	SIX5	HP:0000365	Hearing impairment	-	OMIM:610896
147912	SIX5	HP:0000359	Abnormality of the inner ear	HP:0040281	ORPHA:107
147912	SIX5	HP:0000356	Abnormality of the outer ear	HP:0040283	ORPHA:107
147912	SIX5	HP:0000370	Abnormality of the middle ear	HP:0040281	ORPHA:107
147912	SIX5	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:107
147912	SIX5	HP:0007925	Lacrimal duct aplasia	HP:0040283	ORPHA:107
147912	SIX5	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:107
147912	SIX5	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:107
147912	SIX5	HP:0000402	Stenosis of the external auditory canal	HP:0040282	ORPHA:107
147912	SIX5	HP:0000410	Mixed hearing impairment	HP:0040282	ORPHA:107
147912	SIX5	HP:0000413	Atresia of the external auditory canal	HP:0040282	ORPHA:107
148022	TICAM1	HP:0025143	Chills	HP:0040283	ORPHA:1930
148022	TICAM1	HP:0001250	Seizure	HP:0040282	ORPHA:1930
148022	TICAM1	HP:0001262	Excessive daytime somnolence	HP:0040283	ORPHA:1930
148022	TICAM1	HP:0001259	Coma	HP:0040283	ORPHA:1930
148022	TICAM1	HP:0003829	Typified by incomplete penetrance	-	OMIM:614850
148022	TICAM1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:1930
148022	TICAM1	HP:0031179	Nuchal rigidity	HP:0040282	ORPHA:1930
148022	TICAM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614850
148022	TICAM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614850
148022	TICAM1	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:1930
148022	TICAM1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:1930
148022	TICAM1	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:1930
148022	TICAM1	HP:0002133	Status epilepticus	HP:0040283	ORPHA:1930
148022	TICAM1	HP:0002181	Cerebral edema	HP:0040283	ORPHA:1930
148022	TICAM1	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:1930
148022	TICAM1	HP:0011897	Increased total neutrophil count	HP:0040282	ORPHA:1930
148022	TICAM1	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040282	ORPHA:1930
148022	TICAM1	HP:0200149	CSF lymphocytic pleiocytosis	HP:0040281	ORPHA:1930
148022	TICAM1	HP:0011972	Hypoglycorrhachia	HP:0040283	ORPHA:1930
148022	TICAM1	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:1930
148022	TICAM1	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1930
148022	TICAM1	HP:0002349	Focal aware seizure	HP:0040283	ORPHA:1930
148022	TICAM1	HP:0002315	Headache	HP:0040282	ORPHA:1930
148022	TICAM1	HP:0007185	Loss of consciousness	HP:0040282	ORPHA:1930
148022	TICAM1	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:1930
148022	TICAM1	HP:0001945	Fever	HP:0040282	ORPHA:1930
148022	TICAM1	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:1930
148022	TICAM1	HP:0004372	Reduced consciousness	HP:0040281	ORPHA:1930
148022	TICAM1	HP:0011463	Childhood onset	3/3	OMIM:614850
148022	TICAM1	HP:0012378	Fatigue	HP:0040282	ORPHA:1930
148022	TICAM1	HP:0002922	Increased CSF protein concentration	HP:0040282	ORPHA:1930
148022	TICAM1	HP:0002902	Hyponatremia	HP:0040282	ORPHA:1930
148022	TICAM1	HP:0012302	Herpes simplex encephalitis	2/2	OMIM:614850
148022	TICAM1	HP:0011107	Recurrent aphthous stomatitis	3/5	OMIM:614850
148022	TICAM1	HP:0012443	Abnormal brain morphology	HP:0040281	ORPHA:1930
148022	TICAM1	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040283	ORPHA:1930
148398	SAMD11	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
148398	SAMD11	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
148398	SAMD11	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
148398	SAMD11	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
148398	SAMD11	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
148398	SAMD11	HP:0003621	Juvenile onset	8/19	OMIM:180100
148398	SAMD11	HP:0000662	Nyctalopia	26/28	OMIM:180100
148398	SAMD11	HP:0011463	Childhood onset	3/19	OMIM:180100
148398	SAMD11	HP:0011462	Young adult onset	8/19	OMIM:180100
148398	SAMD11	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
148398	SAMD11	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
148398	SAMD11	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
148398	SAMD11	HP:0000575	Scotoma	5/18	OMIM:180100
148398	SAMD11	HP:0000543	Optic disc pallor	1/1	OMIM:180100
148398	SAMD11	HP:0000545	Myopia	-	OMIM:180100
148738	HJV	HP:0001254	Lethargy	-	OMIM:602390
148738	HJV	HP:0001254	Lethargy	HP:0040282	ORPHA:79230
148738	HJV	HP:0007440	Generalized hyperpigmentation	HP:0040282	ORPHA:79230
148738	HJV	HP:0001394	Cirrhosis	2/4	OMIM:602390
148738	HJV	HP:0000044	Hypogonadotropic hypogonadism	6/7	OMIM:602390
148738	HJV	HP:0001369	Arthritis	-	OMIM:602390
148738	HJV	HP:0000027	Azoospermia	-	OMIM:602390
148738	HJV	HP:0012093	Abnormality of endocrine pancreas physiology	HP:0040283	ORPHA:79230
148738	HJV	HP:0001324	Muscle weakness	HP:0040282	ORPHA:79230
148738	HJV	HP:0000007	Autosomal recessive inheritance	-	OMIM:602390
148738	HJV	HP:0002612	Congenital hepatic fibrosis	HP:0040281	ORPHA:79230
148738	HJV	HP:0000141	Amenorrhea	-	OMIM:602390
148738	HJV	HP:0000135	Hypogonadism	HP:0040282	ORPHA:79230
148738	HJV	HP:0003452	Increased circulating iron concentration	7/7	OMIM:602390
148738	HJV	HP:0002240	Hepatomegaly	7/7	OMIM:602390
148738	HJV	HP:0000802	Impotence	HP:0040282	ORPHA:79230
148738	HJV	HP:0003040	Arthropathy	HP:0040282	ORPHA:79230
148738	HJV	HP:0011462	Young adult onset	-	OMIM:602390
148738	HJV	HP:0000789	Infertility	-	OMIM:602390
148738	HJV	HP:0000819	Diabetes mellitus	HP:0040282	ORPHA:79230
148738	HJV	HP:0003281	Increased circulating ferritin concentration	4/4	OMIM:602390
148738	HJV	HP:0003281	Increased circulating ferritin concentration	HP:0040281	ORPHA:79230
148738	HJV	HP:0000953	Hyperpigmentation of the skin	-	OMIM:602390
148738	HJV	HP:0000939	Osteoporosis	HP:0040283	ORPHA:79230
148738	HJV	HP:0011675	Arrhythmia	-	OMIM:602390
148738	HJV	HP:0011031	Abnormality of iron homeostasis	HP:0040281	ORPHA:79230
148738	HJV	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:79230
148738	HJV	HP:0001644	Dilated cardiomyopathy	-	OMIM:602390
148738	HJV	HP:0001644	Dilated cardiomyopathy	HP:0040282	ORPHA:79230
148738	HJV	HP:0001635	Congestive heart failure	-	OMIM:602390
148738	HJV	HP:0001638	Cardiomyopathy	2/7	OMIM:602390
148738	HJV	HP:0012463	Elevated transferrin saturation	HP:0040281	ORPHA:79230
148738	HJV	HP:0001744	Splenomegaly	-	OMIM:602390
148789	B3GALNT2	HP:0002435	Meningocele	HP:0040283	ORPHA:588
148789	B3GALNT2	HP:0007260	Type II lissencephaly	4/7	OMIM:615181
148789	B3GALNT2	HP:0001276	Hypertonia	HP:0040282	ORPHA:588
148789	B3GALNT2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:899
148789	B3GALNT2	HP:0001288	Gait disturbance	HP:0040281	ORPHA:588
148789	B3GALNT2	HP:0001284	Areflexia	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0001250	Seizure	HP:0040282	ORPHA:588
148789	B3GALNT2	HP:0001250	Seizure	HP:0040283	ORPHA:899
148789	B3GALNT2	HP:0001252	Hypotonia	HP:0040282	ORPHA:588
148789	B3GALNT2	HP:0001252	Hypotonia	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0001249	Intellectual disability	7/7	OMIM:615181
148789	B3GALNT2	HP:0001249	Intellectual disability	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0001263	Global developmental delay	7/7	OMIM:615181
148789	B3GALNT2	HP:0001263	Global developmental delay	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:899
148789	B3GALNT2	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:588
148789	B3GALNT2	HP:0002536	Abnormal cortical gyration	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:588
148789	B3GALNT2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:899
148789	B3GALNT2	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:899
148789	B3GALNT2	HP:0001328	Specific learning disability	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0001339	Lissencephaly	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615181
148789	B3GALNT2	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:899
148789	B3GALNT2	HP:0001302	Pachygyria	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0001321	Cerebellar hypoplasia	1/7	OMIM:615181
148789	B3GALNT2	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0000193	Bifid uvula	HP:0040283	ORPHA:899
148789	B3GALNT2	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:899
148789	B3GALNT2	HP:0000175	Cleft palate	HP:0040283	ORPHA:899
148789	B3GALNT2	HP:0012110	Hypoplasia of the pons	2/7	OMIM:615181
148789	B3GALNT2	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:588
148789	B3GALNT2	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0003457	EMG abnormality	HP:0040281	ORPHA:588
148789	B3GALNT2	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0002126	Polymicrogyria	2/7	OMIM:615181
148789	B3GALNT2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:588
148789	B3GALNT2	HP:0010508	Metatarsus valgus	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0003593	Infantile onset	1/7	OMIM:615181
148789	B3GALNT2	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0003577	Congenital onset	4/7	OMIM:615181
148789	B3GALNT2	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0003560	Muscular dystrophy	-	OMIM:615181
148789	B3GALNT2	HP:0007033	Cerebellar dysplasia	2/7	OMIM:615181
148789	B3GALNT2	HP:0002365	Hypoplasia of the brainstem	1/7	OMIM:615181
148789	B3GALNT2	HP:0002353	EEG abnormality	HP:0040281	ORPHA:588
148789	B3GALNT2	HP:0002352	Leukoencephalopathy	3/7	OMIM:615181
148789	B3GALNT2	HP:0002350	Cerebellar cyst	2/7	OMIM:615181
148789	B3GALNT2	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0006829	Severe muscular hypotonia	4/7	OMIM:615181
148789	B3GALNT2	HP:0000648	Optic atrophy	HP:0040281	ORPHA:588
148789	B3GALNT2	HP:0000648	Optic atrophy	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0000618	Blindness	1/7	OMIM:615181
148789	B3GALNT2	HP:0000612	Iris coloboma	HP:0040283	ORPHA:899
148789	B3GALNT2	HP:0000609	Optic nerve hypoplasia	2/7	OMIM:615181
148789	B3GALNT2	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:588
148789	B3GALNT2	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:588
148789	B3GALNT2	HP:0011463	Childhood onset	2/7	OMIM:615181
148789	B3GALNT2	HP:0003198	Myopathy	HP:0040281	ORPHA:588
148789	B3GALNT2	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:588
148789	B3GALNT2	HP:0003236	Elevated circulating creatine kinase concentration	6/6	OMIM:615181
148789	B3GALNT2	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0000256	Macrocephaly	HP:0040282	ORPHA:899
148789	B3GALNT2	HP:0007731	Chorioretinal dysplasia	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:588
148789	B3GALNT2	HP:0000238	Hydrocephalus	4/7	OMIM:615181
148789	B3GALNT2	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0000252	Microcephaly	HP:0040283	ORPHA:899
148789	B3GALNT2	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:588
148789	B3GALNT2	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:899
148789	B3GALNT2	HP:0000369	Low-set ears	HP:0040283	ORPHA:899
148789	B3GALNT2	HP:0007957	Corneal opacity	HP:0040282	ORPHA:899
148789	B3GALNT2	HP:0007973	Retinal dysplasia	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0000486	Strabismus	HP:0040281	ORPHA:588
148789	B3GALNT2	HP:0000482	Microcornea	HP:0040283	ORPHA:899
148789	B3GALNT2	HP:0012400	Abnormal circulating aldolase concentration	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0000411	Protruding ear	HP:0040283	ORPHA:899
148789	B3GALNT2	HP:0000518	Cataract	HP:0040282	ORPHA:588
148789	B3GALNT2	HP:0000518	Cataract	1/7	OMIM:615181
148789	B3GALNT2	HP:0000518	Cataract	HP:0040283	ORPHA:899
148789	B3GALNT2	HP:0000528	Anophthalmia	HP:0040282	ORPHA:899
148789	B3GALNT2	HP:0000505	Visual impairment	HP:0040281	ORPHA:588
148789	B3GALNT2	HP:0000501	Glaucoma	HP:0040281	ORPHA:588
148789	B3GALNT2	HP:0000501	Glaucoma	HP:0040282	ORPHA:899
148789	B3GALNT2	HP:0000587	Abnormal optic nerve morphology	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0000568	Microphthalmia	2/7	OMIM:615181
148789	B3GALNT2	HP:0000568	Microphthalmia	HP:0040282	ORPHA:899
148789	B3GALNT2	HP:0000541	Retinal detachment	HP:0040281	ORPHA:899
148789	B3GALNT2	HP:0000541	Retinal detachment	1/7	OMIM:615181
148789	B3GALNT2	HP:0000545	Myopia	HP:0040281	ORPHA:588
148789	B3GALNT2	HP:0000545	Myopia	1/7	OMIM:615181
148867	SLC30A7	HP:0000054	Micropenis	2/2	OMIM:620501
148867	SLC30A7	HP:0000028	Cryptorchidism	1/2	OMIM:620501
148867	SLC30A7	HP:0000007	Autosomal recessive inheritance	-	OMIM:620501
148867	SLC30A7	HP:0000135	Hypogonadism	2/2	OMIM:620501
148867	SLC30A7	HP:0002750	Delayed skeletal maturation	2/2	OMIM:620501
148867	SLC30A7	HP:0011904	Persistence of hemoglobin F	2/2	OMIM:620501
148867	SLC30A7	HP:0008232	Elevated circulating follicle stimulating hormone level	2/2	OMIM:620501
148867	SLC30A7	HP:0010627	Anterior pituitary hypoplasia	1/2	OMIM:620501
148867	SLC30A7	HP:0007099	Chiari type I malformation	1/2	OMIM:620501
148867	SLC30A7	HP:0005528	Bone marrow hypocellularity	2/2	OMIM:620501
148867	SLC30A7	HP:0005548	Megakaryocytopenia	2/2	OMIM:620501
148867	SLC30A7	HP:0001972	Macrocytic anemia	2/2	OMIM:620501
148867	SLC30A7	HP:0030674	Antenatal onset	2/2	OMIM:620501
148867	SLC30A7	HP:0001511	Intrauterine growth retardation	2/2	OMIM:620501
148867	SLC30A7	HP:0001510	Growth delay	2/2	OMIM:620501
148867	SLC30A7	HP:0031688	Erythroid dysplasia	2/2	OMIM:620501
148867	SLC30A7	HP:0001875	Decreased total neutrophil count	2/2	OMIM:620501
148979	GLIS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
148979	GLIS1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
148979	GLIS1	HP:0004467	Preauricular pit	-	OMIM:187500
148979	GLIS1	HP:0000337	Broad forehead	-	OMIM:187500
148979	GLIS1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
148979	GLIS1	HP:0000520	Proptosis	-	OMIM:187500
149233	IL23R	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:117
149233	IL23R	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:117
149233	IL23R	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:117
149233	IL23R	HP:0001269	Hemiparesis	HP:0040282	ORPHA:117
149233	IL23R	HP:0001287	Meningitis	HP:0040281	ORPHA:117
149233	IL23R	HP:0001289	Confusion	HP:0040282	ORPHA:117
149233	IL23R	HP:0001288	Gait disturbance	HP:0040282	ORPHA:117
149233	IL23R	HP:0001250	Seizure	HP:0040283	ORPHA:117
149233	IL23R	HP:0001251	Ataxia	HP:0040283	ORPHA:117
149233	IL23R	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:117
149233	IL23R	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:117
149233	IL23R	HP:0000099	Glomerulonephritis	HP:0040284	ORPHA:117
149233	IL23R	HP:0001369	Arthritis	HP:0040281	ORPHA:117
149233	IL23R	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:117
149233	IL23R	HP:0000031	Epididymitis	HP:0040283	ORPHA:117
149233	IL23R	HP:0002638	Superficial thrombophlebitis	HP:0040282	ORPHA:117
149233	IL23R	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:117
149233	IL23R	HP:0002633	Vasculitis	HP:0040281	ORPHA:117
149233	IL23R	HP:0000155	Oral ulcer	HP:0040281	ORPHA:117
149233	IL23R	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:117
149233	IL23R	HP:0012121	Panuveitis	HP:0040282	ORPHA:117
149233	IL23R	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:117
149233	IL23R	HP:0002024	Malabsorption	HP:0040283	ORPHA:117
149233	IL23R	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:117
149233	IL23R	HP:0002027	Abdominal pain	HP:0040282	ORPHA:117
149233	IL23R	HP:0003326	Myalgia	HP:0040281	ORPHA:117
149233	IL23R	HP:0002014	Diarrhea	HP:0040284	ORPHA:117
149233	IL23R	HP:0002076	Migraine	HP:0040281	ORPHA:117
149233	IL23R	HP:0002039	Anorexia	HP:0040283	ORPHA:117
149233	IL23R	HP:0100584	Endocarditis	HP:0040283	ORPHA:117
149233	IL23R	HP:0002102	Pleuritis	HP:0040283	ORPHA:117
149233	IL23R	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:117
149233	IL23R	HP:0002105	Hemoptysis	HP:0040283	ORPHA:117
149233	IL23R	HP:0003401	Paresthesia	HP:0040283	ORPHA:117
149233	IL23R	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:117
149233	IL23R	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:117
149233	IL23R	HP:0002202	Pleural effusion	HP:0040283	ORPHA:117
149233	IL23R	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:117
149233	IL23R	HP:0100796	Orchitis	HP:0040281	ORPHA:117
149233	IL23R	HP:0100758	Gangrene	HP:0040283	ORPHA:117
149233	IL23R	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:117
149233	IL23R	HP:0001061	Acne	HP:0040282	ORPHA:117
149233	IL23R	HP:0002376	Developmental regression	HP:0040283	ORPHA:117
149233	IL23R	HP:0002354	Memory impairment	HP:0040283	ORPHA:117
149233	IL23R	HP:0002321	Vertigo	HP:0040283	ORPHA:117
149233	IL23R	HP:0002315	Headache	HP:0040282	ORPHA:117
149233	IL23R	HP:0100653	Optic neuritis	HP:0040283	ORPHA:117
149233	IL23R	HP:0100654	Retrobulbar optic neuritis	HP:0040283	ORPHA:117
149233	IL23R	HP:0200034	Papule	HP:0040281	ORPHA:117
149233	IL23R	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:117
149233	IL23R	HP:0100614	Myositis	HP:0040283	ORPHA:117
149233	IL23R	HP:0200039	Pustule	HP:0040282	ORPHA:117
149233	IL23R	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:117
149233	IL23R	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:117
149233	IL23R	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:117
149233	IL23R	HP:4000041	AA amyloidosis	HP:0040283	ORPHA:117
149233	IL23R	HP:0000618	Blindness	HP:0040283	ORPHA:117
149233	IL23R	HP:0000613	Photophobia	HP:0040281	ORPHA:117
149233	IL23R	HP:0001945	Fever	HP:0040281	ORPHA:117
149233	IL23R	HP:0001954	Recurrent fever	HP:0040283	ORPHA:117
149233	IL23R	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:117
149233	IL23R	HP:0000737	Irritability	HP:0040283	ORPHA:117
149233	IL23R	HP:0000708	Atypical behavior	HP:0040283	ORPHA:117
149233	IL23R	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:117
149233	IL23R	HP:0100326	Immunologic hypersensitivity	HP:0040282	ORPHA:117
149233	IL23R	HP:0012819	Myocarditis	HP:0040283	ORPHA:117
149233	IL23R	HP:0003249	Genital ulcers	HP:0040282	ORPHA:117
149233	IL23R	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:117
149233	IL23R	HP:0002829	Arthralgia	HP:0040282	ORPHA:117
149233	IL23R	HP:0025532	Positive pathergy test	HP:0040282	ORPHA:117
149233	IL23R	HP:0012219	Erythema nodosum	HP:0040282	ORPHA:117
149233	IL23R	HP:0007813	Nongranulomatous uveitis	HP:0040282	ORPHA:117
149233	IL23R	HP:0012378	Fatigue	HP:0040281	ORPHA:117
149233	IL23R	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:117
149233	IL23R	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:117
149233	IL23R	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:117
149233	IL23R	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:117
149233	IL23R	HP:0001733	Pancreatitis	HP:0040283	ORPHA:117
149233	IL23R	HP:0001701	Pericarditis	HP:0040283	ORPHA:117
149233	IL23R	HP:0000488	Retinopathy	HP:0040283	ORPHA:117
149233	IL23R	HP:0011107	Recurrent aphthous stomatitis	HP:0040281	ORPHA:117
149233	IL23R	HP:0001744	Splenomegaly	HP:0040283	ORPHA:117
149233	IL23R	HP:0000518	Cataract	HP:0040283	ORPHA:117
149233	IL23R	HP:0001824	Weight loss	HP:0040283	ORPHA:117
149233	IL23R	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:117
149371	EXOC8	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1/3	OMIM:619076
149371	EXOC8	HP:0001276	Hypertonia	1/3	OMIM:619076
149371	EXOC8	HP:0001250	Seizure	3/3	OMIM:619076
149371	EXOC8	HP:0001252	Hypotonia	1/3	OMIM:619076
149371	EXOC8	HP:0001257	Spasticity	3/3	OMIM:619076
149371	EXOC8	HP:0002521	Hypsarrhythmia	1/3	OMIM:619076
149371	EXOC8	HP:0001371	Flexion contracture	2/3	OMIM:619076
149371	EXOC8	HP:0001347	Hyperreflexia	3/3	OMIM:619076
149371	EXOC8	HP:0001363	Craniosynostosis	1/3	OMIM:619076
149371	EXOC8	HP:0001324	Muscle weakness	2/3	OMIM:619076
149371	EXOC8	HP:0000007	Autosomal recessive inheritance	-	OMIM:619076
149371	EXOC8	HP:0002079	Hypoplasia of the corpus callosum	3/3	OMIM:619076
149371	EXOC8	HP:0002188	Delayed CNS myelination	1/3	OMIM:619076
149371	EXOC8	HP:0002190	Choroid plexus cyst	1/3	OMIM:619076
149371	EXOC8	HP:0011344	Severe global developmental delay	3/3	OMIM:619076
149371	EXOC8	HP:0000737	Irritability	1/3	OMIM:619076
149371	EXOC8	HP:0011421	Death in adolescence	1/3	OMIM:619076
149371	EXOC8	HP:0000252	Microcephaly	3/3	OMIM:619076
149371	EXOC8	HP:0032794	Myoclonic seizure	1/3	OMIM:619076
149371	EXOC8	HP:0000311	Round face	2/3	OMIM:619076
149371	EXOC8	HP:0012444	Brain atrophy	-	OMIM:619076
149371	EXOC8	HP:0000527	Long eyelashes	2/3	OMIM:619076
149371	EXOC8	HP:0000508	Ptosis	1/3	OMIM:619076
149371	EXOC8	HP:0000577	Exotropia	2/3	OMIM:619076
149371	EXOC8	HP:0000543	Optic disc pallor	1/3	OMIM:619076
149461	CLDN19	HP:0003774	Stage 5 chronic kidney disease	8/12	OMIM:248190
149461	CLDN19	HP:0001116	Macular coloboma	HP:0040281	ORPHA:2196
149461	CLDN19	HP:0001116	Macular coloboma	5/10	OMIM:248190
149461	CLDN19	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:2196
149461	CLDN19	HP:0000010	Recurrent urinary tract infections	8/12	OMIM:248190
149461	CLDN19	HP:0000007	Autosomal recessive inheritance	-	OMIM:248190
149461	CLDN19	HP:0000121	Nephrocalcinosis	12/12	OMIM:248190
149461	CLDN19	HP:0000112	Nephropathy	HP:0040281	ORPHA:2196
149461	CLDN19	HP:0100530	Abnormal circulating calcium-phosphate regulating hormone concentration	HP:0040281	ORPHA:2196
149461	CLDN19	HP:0002150	Hypercalciuria	12/12	OMIM:248190
149461	CLDN19	HP:0003593	Infantile onset	8/12	OMIM:248190
149461	CLDN19	HP:0003621	Juvenile onset	2/12	OMIM:248190
149461	CLDN19	HP:0005567	Renal magnesium wasting	12/12	OMIM:248190
149461	CLDN19	HP:0012622	Chronic kidney disease	-	OMIM:248190
149461	CLDN19	HP:0000639	Nystagmus	11/11	OMIM:248190
149461	CLDN19	HP:0000639	Nystagmus	HP:0040281	ORPHA:2196
149461	CLDN19	HP:0012608	Hypermagnesiuria	12/12	OMIM:248190
149461	CLDN19	HP:0012637	Renal calcium wasting	-	OMIM:248190
149461	CLDN19	HP:0004363	Abnormal circulating calcium concentration	0/12	OMIM:248190
149461	CLDN19	HP:0000705	Amelogenesis imperfecta	HP:0040284	OMIM:248190
149461	CLDN19	HP:0011463	Childhood onset	2/12	OMIM:248190
149461	CLDN19	HP:0000790	Hematuria	HP:0040282	ORPHA:2196
149461	CLDN19	HP:0000787	Nephrolithiasis	5/12	OMIM:248190
149461	CLDN19	HP:0000787	Nephrolithiasis	HP:0040281	ORPHA:2196
149461	CLDN19	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:2196
149461	CLDN19	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2196
149461	CLDN19	HP:0002917	Hypomagnesemia	12/12	OMIM:248190
149461	CLDN19	HP:0000483	Astigmatism	-	OMIM:248190
149461	CLDN19	HP:0000486	Strabismus	-	OMIM:248190
149461	CLDN19	HP:0000510	Rod-cone dystrophy	-	OMIM:248190
149461	CLDN19	HP:0000567	Chorioretinal coloboma	HP:0040281	ORPHA:2196
149461	CLDN19	HP:0000545	Myopia	HP:0040281	ORPHA:2196
149461	CLDN19	HP:0000545	Myopia	10/12	OMIM:248190
149775	GNAS-AS1	HP:0001156	Brachydactyly	HP:0040283	OMIM:603233
149775	GNAS-AS1	HP:0003745	Sporadic	-	OMIM:603233
149775	GNAS-AS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:603233
149775	GNAS-AS1	HP:0003456	Low urinary cyclic AMP response to PTH administration	-	OMIM:603233
149775	GNAS-AS1	HP:0010049	Short metacarpal	HP:0040283	OMIM:603233
149775	GNAS-AS1	HP:0003165	Elevated circulating parathyroid hormone level	-	OMIM:603233
149775	GNAS-AS1	HP:0000852	Pseudohypoparathyroidism	-	OMIM:603233
149775	GNAS-AS1	HP:0001513	Obesity	HP:0040283	OMIM:603233
149775	GNAS-AS1	HP:0002905	Hyperphosphatemia	-	OMIM:603233
149775	GNAS-AS1	HP:0002901	Hypocalcemia	-	OMIM:603233
150094	SIK1	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:1934
150094	SIK1	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:1934
150094	SIK1	HP:0002421	Poor head control	HP:0040282	ORPHA:1934
150094	SIK1	HP:0001298	Encephalopathy	-	OMIM:616341
150094	SIK1	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:1934
150094	SIK1	HP:0001254	Lethargy	HP:0040282	ORPHA:1934
150094	SIK1	HP:0001250	Seizure	HP:0040280	ORPHA:1934
150094	SIK1	HP:0001250	Seizure	6/6	OMIM:616341
150094	SIK1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1934
150094	SIK1	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:1934
150094	SIK1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1934
150094	SIK1	HP:0001263	Global developmental delay	4/4	OMIM:616341
150094	SIK1	HP:0001257	Spasticity	HP:0040283	ORPHA:1934
150094	SIK1	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:1934
150094	SIK1	HP:0002521	Hypsarrhythmia	HP:0040281	ORPHA:697160
150094	SIK1	HP:0002521	Hypsarrhythmia	-	OMIM:616341
150094	SIK1	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:1934
150094	SIK1	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:1934
150094	SIK1	HP:0000070	Ureterocele	HP:0040284	ORPHA:1934
150094	SIK1	HP:0000054	Micropenis	HP:0040284	ORPHA:1934
150094	SIK1	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1934
150094	SIK1	HP:0001332	Dystonia	HP:0040284	ORPHA:1934
150094	SIK1	HP:0001344	Absent speech	4/4	OMIM:616341
150094	SIK1	HP:0001337	Tremor	HP:0040283	ORPHA:1934
150094	SIK1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616341
150094	SIK1	HP:0001336	Myoclonus	HP:0040283	ORPHA:1934
150094	SIK1	HP:0001336	Myoclonus	HP:0040281	ORPHA:697160
150094	SIK1	HP:0001302	Pachygyria	HP:0040283	ORPHA:1934
150094	SIK1	HP:0000175	Cleft palate	HP:0040284	ORPHA:1934
150094	SIK1	HP:0008947	Floppy infant	HP:0040282	ORPHA:1934
150094	SIK1	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:1934
150094	SIK1	HP:0002033	Poor suck	HP:0040282	ORPHA:1934
150094	SIK1	HP:0002015	Dysphagia	HP:0040282	ORPHA:1934
150094	SIK1	HP:0002098	Respiratory distress	3/6	OMIM:616341
150094	SIK1	HP:0002069	Bilateral tonic-clonic seizure	-	OMIM:616341
150094	SIK1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:1934
150094	SIK1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1934
150094	SIK1	HP:0002123	Generalized myoclonic seizure	2/6	OMIM:616341
150094	SIK1	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:1934
150094	SIK1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:1934
150094	SIK1	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:1934
150094	SIK1	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:1934
150094	SIK1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1934
150094	SIK1	HP:0200134	Epileptic encephalopathy	-	OMIM:616341
150094	SIK1	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:1934
150094	SIK1	HP:0011968	Feeding difficulties	-	OMIM:616341
150094	SIK1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1934
150094	SIK1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:1934
150094	SIK1	HP:0002376	Developmental regression	HP:0040283	ORPHA:1934
150094	SIK1	HP:0002376	Developmental regression	HP:0040281	ORPHA:697160
150094	SIK1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1934
150094	SIK1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1934
150094	SIK1	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:1934
150094	SIK1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1934
150094	SIK1	HP:0010819	Atonic seizure	HP:0040283	ORPHA:1934
150094	SIK1	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:1934
150094	SIK1	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1934
150094	SIK1	HP:0000733	Motor stereotypy	4/4	OMIM:616341
150094	SIK1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1934
150094	SIK1	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:697160
150094	SIK1	HP:0010174	Broad phalanx of the toes	HP:0040284	ORPHA:1934
150094	SIK1	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1934
150094	SIK1	HP:0009381	Short finger	HP:0040284	ORPHA:1934
150094	SIK1	HP:0000252	Microcephaly	HP:0040284	ORPHA:1934
150094	SIK1	HP:0001522	Death in infancy	2/6	OMIM:616341
150094	SIK1	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1934
150094	SIK1	HP:0001508	Failure to thrive	HP:0040284	ORPHA:1934
150094	SIK1	HP:0001500	Broad finger	HP:0040284	ORPHA:1934
150094	SIK1	HP:0000340	Sloping forehead	HP:0040284	ORPHA:1934
150094	SIK1	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:1934
150094	SIK1	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	HP:0040283	ORPHA:1934
150094	SIK1	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:1934
150094	SIK1	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:1934
150094	SIK1	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:1934
150094	SIK1	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:1934
150094	SIK1	HP:0000486	Strabismus	HP:0040284	ORPHA:1934
150094	SIK1	HP:0012469	Infantile spasms	HP:0040281	ORPHA:697160
150094	SIK1	HP:0012469	Infantile spasms	HP:0040283	ORPHA:1934
150094	SIK1	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1934
150094	SIK1	HP:0012448	Delayed myelination	HP:0040283	ORPHA:1934
150094	SIK1	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:697160
150094	SIK1	HP:0012554	Absent thumbnail	HP:0040284	ORPHA:1934
150274	HSCB	HP:0000007	Autosomal recessive inheritance	-	OMIM:619523
150274	HSCB	HP:0004840	Hypochromic microcytic anemia	1/1	OMIM:619523
150274	HSCB	HP:0004828	Refractory anemia with ringed sideroblasts	1/1	OMIM:619523
150274	HSCB	HP:0003621	Juvenile onset	1/1	OMIM:619523
150274	HSCB	HP:0031851	Reduced hematocrit	1/1	OMIM:619523
150274	HSCB	HP:0001903	Anemia	1/1	OMIM:619523
150274	HSCB	HP:0001873	Thrombocytopenia	1/1	OMIM:619523
150274	HSCB	HP:0001875	Decreased total neutrophil count	1/1	OMIM:619523
150365	MEI1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618431
150365	MEI1	HP:0008222	Female infertility	2/2	OMIM:618431
150365	MEI1	HP:0032192	Hydatidiform mole	2/2	OMIM:618431
150365	MEI1	HP:0011462	Young adult onset	2/2	OMIM:618431
150468	CKAP2L	HP:0002451	Limb dystonia	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
150468	CKAP2L	HP:0001293	Cranial nerve compression	-	OMIM:131300
150468	CKAP2L	HP:0001272	Cerebellar atrophy	-	OMIM:272440
150468	CKAP2L	HP:0001250	Seizure	HP:0040283	ORPHA:3255
150468	CKAP2L	HP:0001250	Seizure	-	OMIM:272440
150468	CKAP2L	HP:0001252	Hypotonia	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0001252	Hypotonia	2/7	OMIM:615777
150468	CKAP2L	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3255
150468	CKAP2L	HP:0001249	Intellectual disability	-	OMIM:272440
150468	CKAP2L	HP:0001249	Intellectual disability	5/7	OMIM:615777
150468	CKAP2L	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3255
150468	CKAP2L	HP:0001263	Global developmental delay	-	OMIM:615777
150468	CKAP2L	HP:0001257	Spasticity	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0002558	Supernumerary nipple	HP:0040283	ORPHA:3255
150468	CKAP2L	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:3255
150468	CKAP2L	HP:0002515	Waddling gait	54/102	OMIM:131300
150468	CKAP2L	HP:0000062	Ambiguous genitalia	HP:0040283	OMIM:272440
150468	CKAP2L	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0001382	Joint hypermobility	-	OMIM:615777
150468	CKAP2L	HP:0002694	Sclerosis of skull base	-	OMIM:131300
150468	CKAP2L	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:3255
150468	CKAP2L	HP:0000028	Cryptorchidism	-	OMIM:272440
150468	CKAP2L	HP:0008897	Postnatal growth retardation	-	OMIM:272440
150468	CKAP2L	HP:0008897	Postnatal growth retardation	-	OMIM:615777
150468	CKAP2L	HP:0001332	Dystonia	-	OMIM:272440
150468	CKAP2L	HP:0001328	Specific learning disability	HP:0040281	ORPHA:3255
150468	CKAP2L	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
150468	CKAP2L	HP:0001324	Muscle weakness	40/96	OMIM:131300
150468	CKAP2L	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
150468	CKAP2L	HP:0000007	Autosomal recessive inheritance	-	OMIM:272440
150468	CKAP2L	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
150468	CKAP2L	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
150468	CKAP2L	HP:0002650	Scoliosis	12/14	OMIM:131300
150468	CKAP2L	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
150468	CKAP2L	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
150468	CKAP2L	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
150468	CKAP2L	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
150468	CKAP2L	HP:0000175	Cleft palate	2/7	OMIM:615777
150468	CKAP2L	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0002007	Frontal bossing	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0003388	Easy fatigability	36/76	OMIM:131300
150468	CKAP2L	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
150468	CKAP2L	HP:0010550	Paraplegia	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0010529	Echolalia	HP:0040281	ORPHA:3255
150468	CKAP2L	HP:0010580	Enlarged epiphyses	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0010714	2-4 toe syndactyly	-	OMIM:272440
150468	CKAP2L	HP:0010624	Aplastic/hypoplastic toenail	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0003510	Severe short stature	HP:0040281	ORPHA:3255
150468	CKAP2L	HP:0003510	Severe short stature	7/7	OMIM:615777
150468	CKAP2L	HP:0002381	Aphasia	HP:0040281	ORPHA:3255
150468	CKAP2L	HP:0002315	Headache	-	OMIM:131300
150468	CKAP2L	HP:0004976	Knee dislocation	6/7	OMIM:615777
150468	CKAP2L	HP:0009803	Short phalanx of finger	-	OMIM:615777
150468	CKAP2L	HP:0010761	Broad columella	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0009763	Limb pain	63/92	OMIM:131300
150468	CKAP2L	HP:0009765	Low hanging columella	-	OMIM:272440
150468	CKAP2L	HP:0002300	Mutism	HP:0040281	ORPHA:3255
150468	CKAP2L	HP:0003621	Juvenile onset	-	OMIM:131300
150468	CKAP2L	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
150468	CKAP2L	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:3255
150468	CKAP2L	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
150468	CKAP2L	HP:6001056	Out-toeing	-	OMIM:131300
150468	CKAP2L	HP:0000651	Diplopia	-	OMIM:131300
150468	CKAP2L	HP:0000648	Optic atrophy	-	OMIM:272440
150468	CKAP2L	HP:0000648	Optic atrophy	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0001956	Truncal obesity	2/7	OMIM:615777
150468	CKAP2L	HP:0001903	Anemia	HP:0040283	OMIM:131300
150468	CKAP2L	HP:0010049	Short metacarpal	-	OMIM:615777
150468	CKAP2L	HP:0011335	Frontal hirsutism	-	OMIM:272440
150468	CKAP2L	HP:0000678	Dental crowding	-	OMIM:615777
150468	CKAP2L	HP:0000691	Microdontia	-	OMIM:272440
150468	CKAP2L	HP:0000670	Carious teeth	-	OMIM:131300
150468	CKAP2L	HP:0011304	Broad thumb	2/7	OMIM:615777
150468	CKAP2L	HP:0000668	Hypodontia	-	OMIM:615777
150468	CKAP2L	HP:0000668	Hypodontia	HP:0040283	OMIM:272440
150468	CKAP2L	HP:0000664	Synophrys	-	OMIM:615777
150468	CKAP2L	HP:0004325	Decreased body weight	-	OMIM:272440
150468	CKAP2L	HP:0004322	Short stature	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0004396	Poor appetite	-	OMIM:131300
150468	CKAP2L	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
150468	CKAP2L	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
150468	CKAP2L	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
150468	CKAP2L	HP:0003026	Short long bone	7/7	OMIM:615777
150468	CKAP2L	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
150468	CKAP2L	HP:0000767	Pectus excavatum	2/7	OMIM:615777
150468	CKAP2L	HP:0000768	Pectus carinatum	1/7	OMIM:615777
150468	CKAP2L	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
150468	CKAP2L	HP:0012725	Cutaneous syndactyly	-	OMIM:272440
150468	CKAP2L	HP:0000750	Delayed speech and language development	-	OMIM:615777
150468	CKAP2L	HP:0011461	Fetal onset	7/7	OMIM:615777
150468	CKAP2L	HP:0000774	Narrow chest	2/7	OMIM:615777
150468	CKAP2L	HP:0000926	Platyspondyly	1/7	OMIM:615777
150468	CKAP2L	HP:0034270	Serrated incisors	-	OMIM:272440
150468	CKAP2L	HP:0003180	Flat acetabular roof	-	OMIM:615777
150468	CKAP2L	HP:0004482	Relative macrocephaly	-	OMIM:615777
150468	CKAP2L	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
150468	CKAP2L	HP:0000823	Delayed puberty	-	OMIM:131300
150468	CKAP2L	HP:0040019	Finger clinodactyly	-	OMIM:272440
150468	CKAP2L	HP:0000894	Short clavicles	-	OMIM:615777
150468	CKAP2L	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
150468	CKAP2L	HP:0000998	Hypertrichosis	HP:0040283	OMIM:272440
150468	CKAP2L	HP:0000954	Single transverse palmar crease	-	OMIM:272440
150468	CKAP2L	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
150468	CKAP2L	HP:0008070	Sparse hair	HP:0040283	OMIM:272440
150468	CKAP2L	HP:0000286	Epicanthus	1/7	OMIM:615777
150468	CKAP2L	HP:0000280	Coarse facial features	2/7	OMIM:615777
150468	CKAP2L	HP:0002827	Hip dislocation	3/7	OMIM:615777
150468	CKAP2L	HP:0000252	Microcephaly	HP:0040281	ORPHA:3255
150468	CKAP2L	HP:0000252	Microcephaly	-	OMIM:272440
150468	CKAP2L	HP:0000252	Microcephaly	-	OMIM:615777
150468	CKAP2L	HP:0000233	Thin vermilion border	HP:0040283	ORPHA:3255
150468	CKAP2L	HP:0000233	Thin vermilion border	-	OMIM:272440
150468	CKAP2L	HP:0002857	Genu valgum	-	OMIM:131300
150468	CKAP2L	HP:0001533	Slender build	-	OMIM:131300
150468	CKAP2L	HP:0001511	Intrauterine growth retardation	-	OMIM:272440
150468	CKAP2L	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
150468	CKAP2L	HP:0001510	Growth delay	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0007807	Optic nerve compression	-	OMIM:131300
150468	CKAP2L	HP:0012368	Flat face	7/7	OMIM:615777
150468	CKAP2L	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
150468	CKAP2L	HP:0006482	Abnormal dental morphology	-	OMIM:272440
150468	CKAP2L	HP:0000365	Hearing impairment	10/67	OMIM:131300
150468	CKAP2L	HP:0000343	Long philtrum	1/7	OMIM:615777
150468	CKAP2L	HP:0011001	Increased bone mineral density	-	OMIM:131300
150468	CKAP2L	HP:0000337	Broad forehead	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0000337	Broad forehead	-	OMIM:272440
150468	CKAP2L	HP:0000311	Round face	2/7	OMIM:615777
150468	CKAP2L	HP:0000322	Short philtrum	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0000322	Short philtrum	-	OMIM:272440
150468	CKAP2L	HP:0001629	Ventricular septal defect	-	OMIM:272440
150468	CKAP2L	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:3255
150468	CKAP2L	HP:0002970	Genu varum	-	OMIM:615777
150468	CKAP2L	HP:0000303	Mandibular prognathia	-	OMIM:131300
150468	CKAP2L	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
150468	CKAP2L	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0001792	Small nail	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0000470	Short neck	1/7	OMIM:615777
150468	CKAP2L	HP:0001769	Broad foot	HP:0040283	OMIM:615777
150468	CKAP2L	HP:0001763	Pes planus	1/7	OMIM:615777
150468	CKAP2L	HP:0000445	Wide nose	HP:0040281	ORPHA:3255
150468	CKAP2L	HP:0000431	Wide nasal bridge	-	OMIM:272440
150468	CKAP2L	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:3255
150468	CKAP2L	HP:0000430	Underdeveloped nasal alae	HP:0040281	ORPHA:3255
150468	CKAP2L	HP:0000430	Underdeveloped nasal alae	-	OMIM:272440
150468	CKAP2L	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:3255
150468	CKAP2L	HP:0001840	Metatarsus adductus	-	OMIM:615777
150468	CKAP2L	HP:0000520	Proptosis	2/4	OMIM:131300
150468	CKAP2L	HP:0000520	Proptosis	-	OMIM:272440
150468	CKAP2L	HP:0000520	Proptosis	7/7	OMIM:615777
150468	CKAP2L	HP:0000505	Visual impairment	-	OMIM:272440
150468	CKAP2L	HP:0000592	Blue sclerae	2/7	OMIM:615777
150468	CKAP2L	HP:0011220	Prominent forehead	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
150468	CKAP2L	HP:0001864	Clinodactyly of the 5th toe	HP:0040282	ORPHA:3255
150468	CKAP2L	HP:0012514	Lower limb pain	4/4	OMIM:131300
151188	ARL6IP6	HP:0100814	Blue nevus	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0001250	Seizure	HP:0040281	ORPHA:1556
151188	ARL6IP6	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0000003	Multicystic kidney dysplasia	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0002650	Scoliosis	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0100545	Arterial stenosis	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0100555	Asymmetric growth	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0100585	Telangiectasia of the skin	HP:0040282	ORPHA:1556
151188	ARL6IP6	HP:0100627	Displacement of the urethral meatus	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0200041	Skin erosion	HP:0040281	ORPHA:1556
151188	ARL6IP6	HP:0001933	Subcutaneous hemorrhage	HP:0040281	ORPHA:1556
151188	ARL6IP6	HP:0004349	Reduced bone mineral density	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0100026	Arteriovenous malformation	HP:0040281	ORPHA:1556
151188	ARL6IP6	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0000979	Purpura	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:1556
151188	ARL6IP6	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:1556
151188	ARL6IP6	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040282	ORPHA:1556
151188	ARL6IP6	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:1556
151188	ARL6IP6	HP:0002814	Abnormality of the lower limb	HP:0040281	ORPHA:1556
151188	ARL6IP6	HP:0006385	Short lower limbs	HP:0040281	ORPHA:1556
151188	ARL6IP6	HP:0001541	Ascites	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0000347	Micrognathia	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0005306	Capillary hemangioma	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:1556
151188	ARL6IP6	HP:0000555	Leukocoria	HP:0040282	ORPHA:1556
151188	ARL6IP6	HP:0000541	Retinal detachment	HP:0040282	ORPHA:1556
151254	CATSPERT	HP:0000007	Autosomal recessive inheritance	-	OMIM:619805
151254	CATSPERT	HP:0011462	Young adult onset	1/1	OMIM:619805
151254	CATSPERT	HP:0003251	Male infertility	1/1	OMIM:619805
151254	CATSPERT	HP:0012205	Globozoospermia	1/1	OMIM:619805
151516	ASPRV1	HP:0100806	Sepsis	HP:0040283	ORPHA:313
151516	ASPRV1	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:313
151516	ASPRV1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:313
151516	ASPRV1	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	-	OMIM:146750
151516	ASPRV1	HP:0000006	Autosomal dominant inheritance	-	OMIM:146750
151516	ASPRV1	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:313
151516	ASPRV1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:313
151516	ASPRV1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:313
151516	ASPRV1	HP:0100758	Gangrene	HP:0040283	ORPHA:313
151516	ASPRV1	HP:0001019	Erythroderma	HP:0040281	ORPHA:313
151516	ASPRV1	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:313
151516	ASPRV1	HP:0001944	Dehydration	HP:0040283	ORPHA:313
151516	ASPRV1	HP:0000656	Ectropion	HP:0040281	ORPHA:313
151516	ASPRV1	HP:0004322	Short stature	HP:0040283	ORPHA:313
151516	ASPRV1	HP:0000989	Pruritus	-	OMIM:146750
151516	ASPRV1	HP:0000989	Pruritus	HP:0040281	ORPHA:313
151516	ASPRV1	HP:0000958	Dry skin	HP:0040281	ORPHA:313
151516	ASPRV1	HP:0000962	Hyperkeratosis	-	OMIM:146750
151516	ASPRV1	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:313
151516	ASPRV1	HP:0008070	Sparse hair	HP:0040281	ORPHA:313
151516	ASPRV1	HP:0008064	Ichthyosis	HP:0040281	ORPHA:313
151516	ASPRV1	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:313
151516	ASPRV1	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:313
151516	ASPRV1	HP:0011039	Abnormal helix morphology	HP:0040282	ORPHA:313
151516	ASPRV1	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:313
151648	SGO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616201
151648	SGO1	HP:0031295	Left atrial enlargement	8/17	OMIM:616201
151648	SGO1	HP:0011704	Sick sinus syndrome	17/17	OMIM:616201
151648	SGO1	HP:0004749	Atrial flutter	5/17	OMIM:616201
151648	SGO1	HP:0003621	Juvenile onset	8/17	OMIM:616201
151648	SGO1	HP:0004325	Decreased body weight	17/17	OMIM:616201
151648	SGO1	HP:0004389	Intestinal pseudo-obstruction	17/17	OMIM:616201
151648	SGO1	HP:0011462	Young adult onset	9/17	OMIM:616201
151648	SGO1	HP:0005110	Atrial fibrillation	1/17	OMIM:616201
151648	SGO1	HP:0001508	Failure to thrive	17/17	OMIM:616201
151648	SGO1	HP:0005155	Ventricular escape rhythm	4/17	OMIM:616201
151648	SGO1	HP:0001647	Bicuspid aortic valve	1/17	OMIM:616201
151648	SGO1	HP:0001642	Pulmonic stenosis	1/17	OMIM:616201
151648	SGO1	HP:0001662	Bradycardia	17/17	OMIM:616201
151648	SGO1	HP:0001653	Mitral regurgitation	3/17	OMIM:616201
152110	NEK10	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
152110	NEK10	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
152110	NEK10	HP:0001217	Clubbing	HP:0040283	ORPHA:244
152110	NEK10	HP:0032341	Reduced forced vital capacity	5/7	OMIM:618781
152110	NEK10	HP:0032342	Reduced forced expiratory volume in one second	6/7	OMIM:618781
152110	NEK10	HP:0000007	Autosomal recessive inheritance	-	OMIM:618781
152110	NEK10	HP:0002643	Neonatal respiratory distress	2/9	OMIM:618781
152110	NEK10	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
152110	NEK10	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
152110	NEK10	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
152110	NEK10	HP:0031245	Productive cough	HP:0040282	ORPHA:244
152110	NEK10	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
152110	NEK10	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
152110	NEK10	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
152110	NEK10	HP:0002110	Bronchiectasis	9/9	OMIM:618781
152110	NEK10	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
152110	NEK10	HP:0008222	Female infertility	HP:0040283	ORPHA:244
152110	NEK10	HP:0003593	Infantile onset	7/9	OMIM:618781
152110	NEK10	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
152110	NEK10	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
152110	NEK10	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
152110	NEK10	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
152110	NEK10	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
152110	NEK10	HP:0003623	Neonatal onset	2/9	OMIM:618781
152110	NEK10	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
152110	NEK10	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
152110	NEK10	HP:0040128	Abnormal sweat electrolytes	0/5	OMIM:618781
152110	NEK10	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
152110	NEK10	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
152110	NEK10	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
152110	NEK10	HP:0030853	Heterotaxy	0/9	OMIM:618781
152110	NEK10	HP:0030828	Wheezing	HP:0040283	ORPHA:244
152110	NEK10	HP:0003251	Male infertility	HP:0040282	ORPHA:244
152110	NEK10	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
152110	NEK10	HP:0033036	Decreased nasal nitric oxide	0/4	OMIM:618781
152110	NEK10	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
152110	NEK10	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
152110	NEK10	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
152110	NEK10	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
152110	NEK10	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
152110	NEK10	HP:0000388	Otitis media	2/9	OMIM:618781
152110	NEK10	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
152110	NEK10	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
152110	NEK10	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
152110	NEK10	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
152110	NEK10	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
152110	NEK10	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
152110	NEK10	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
152110	NEK10	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
152110	NEK10	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
152110	NEK10	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
152110	NEK10	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
152110	NEK10	HP:0011108	Recurrent sinusitis	8/9	OMIM:618781
152110	NEK10	HP:0001746	Asplenia	HP:0040284	ORPHA:244
152110	NEK10	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
152110	NEK10	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
152110	NEK10	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
152110	NEK10	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
152110	NEK10	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
152137	CCDC50	HP:0000006	Autosomal dominant inheritance	-	OMIM:607453
152137	CCDC50	HP:0003621	Juvenile onset	18/18	OMIM:607453
152137	CCDC50	HP:0011390	Abnormal inner ear morphology	0/1	OMIM:607453
152137	CCDC50	HP:0000360	Tinnitus	0/18	OMIM:607453
152137	CCDC50	HP:0000407	Sensorineural hearing impairment	18/18	OMIM:607453
152137	CCDC50	HP:0001751	Abnormal vestibular function	0/18	OMIM:607453
152816	ODAPH	HP:0000007	Autosomal recessive inheritance	-	OMIM:614832
152816	ODAPH	HP:0006297	Enamel hypoplasia	-	OMIM:614832
152816	ODAPH	HP:0006285	Enamel hypomineralization	-	OMIM:614832
152816	ODAPH	HP:0000705	Amelogenesis imperfecta	-	OMIM:614832
152926	PPM1K	HP:0010913	Hyperisoleucinemia	1/1	OMIM:615135
152926	PPM1K	HP:0010911	Hyperleucinemia	1/1	OMIM:615135
152926	PPM1K	HP:0000007	Autosomal recessive inheritance	-	OMIM:615135
153201	SLC36A2	HP:0001249	Intellectual disability	-	OMIM:242600
153201	SLC36A2	HP:0008672	Calcium oxalate nephrolithiasis	-	OMIM:138500
153201	SLC36A2	HP:0000007	Autosomal recessive inheritance	-	OMIM:242600
153201	SLC36A2	HP:0000006	Autosomal dominant inheritance	-	OMIM:138500
153201	SLC36A2	HP:0002154	Hyperglycinemia	-	ORPHA:42062
153201	SLC36A2	HP:0008358	Hyperprolinemia	-	ORPHA:42062
153201	SLC36A2	HP:0003080	Hydroxyprolinuria	-	OMIM:242600
153201	SLC36A2	HP:0003080	Hydroxyprolinuria	HP:0040280	ORPHA:42062
153201	SLC36A2	HP:0003108	Hyperglycinuria	-	OMIM:242600
153201	SLC36A2	HP:0003108	Hyperglycinuria	HP:0040280	ORPHA:42062
153201	SLC36A2	HP:0003108	Hyperglycinuria	-	OMIM:138500
153201	SLC36A2	HP:0003137	Prolinuria	-	OMIM:242600
153201	SLC36A2	HP:0003137	Prolinuria	HP:0040280	ORPHA:42062
153201	SLC36A2	HP:0003260	Hydroxyprolinemia	-	ORPHA:42062
153201	SLC36A2	HP:0000478	Abnormality of the eye	-	OMIM:242600
153241	CEP120	HP:0001156	Brachydactyly	HP:0040282	ORPHA:474
153241	CEP120	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:474
153241	CEP120	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
153241	CEP120	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:220493
153241	CEP120	HP:0009921	Duane anomaly	1/4	OMIM:617761
153241	CEP120	HP:0002419	Molar tooth sign on MRI	HP:0040281	ORPHA:220493
153241	CEP120	HP:0002419	Molar tooth sign on MRI	-	OMIM:616300
153241	CEP120	HP:0002419	Molar tooth sign on MRI	4/4	OMIM:617761
153241	CEP120	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
153241	CEP120	HP:0001293	Cranial nerve compression	-	OMIM:131300
153241	CEP120	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:220493
153241	CEP120	HP:0001288	Gait disturbance	HP:0040282	ORPHA:220493
153241	CEP120	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
153241	CEP120	HP:0001250	Seizure	HP:0040283	ORPHA:220493
153241	CEP120	HP:0001250	Seizure	HP:0040283	ORPHA:475
153241	CEP120	HP:0001252	Hypotonia	HP:0040281	ORPHA:220493
153241	CEP120	HP:0001252	Hypotonia	4/4	OMIM:617761
153241	CEP120	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
153241	CEP120	HP:0001252	Hypotonia	2/7	OMIM:615777
153241	CEP120	HP:0001251	Ataxia	HP:0040281	ORPHA:220493
153241	CEP120	HP:0001251	Ataxia	HP:0040281	ORPHA:475
153241	CEP120	HP:0001249	Intellectual disability	HP:0040281	ORPHA:220493
153241	CEP120	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
153241	CEP120	HP:0001249	Intellectual disability	5/7	OMIM:615777
153241	CEP120	HP:0001263	Global developmental delay	HP:0040281	ORPHA:220493
153241	CEP120	HP:0001263	Global developmental delay	4/4	OMIM:617761
153241	CEP120	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
153241	CEP120	HP:0001263	Global developmental delay	-	OMIM:615777
153241	CEP120	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
153241	CEP120	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:220493
153241	CEP120	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
153241	CEP120	HP:0002515	Waddling gait	54/102	OMIM:131300
153241	CEP120	HP:0003826	Stillbirth	1/2	OMIM:616300
153241	CEP120	HP:0000089	Renal hypoplasia	-	OMIM:616300
153241	CEP120	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:474
153241	CEP120	HP:0000090	Nephronophthisis	HP:0040283	ORPHA:474
153241	CEP120	HP:0000062	Ambiguous genitalia	-	OMIM:616300
153241	CEP120	HP:0001392	Abnormality of the liver	HP:0040283	ORPHA:474
153241	CEP120	HP:0001382	Joint hypermobility	-	OMIM:615777
153241	CEP120	HP:0002694	Sclerosis of skull base	-	OMIM:131300
153241	CEP120	HP:0002692	Hypoplastic facial bones	-	OMIM:616300
153241	CEP120	HP:0000028	Cryptorchidism	-	OMIM:616300
153241	CEP120	HP:0008897	Postnatal growth retardation	-	OMIM:615777
153241	CEP120	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
153241	CEP120	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:474
153241	CEP120	HP:0008839	Hypoplastic pelvis	1/2	OMIM:616300
153241	CEP120	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
153241	CEP120	HP:0001324	Muscle weakness	40/96	OMIM:131300
153241	CEP120	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
153241	CEP120	HP:0000007	Autosomal recessive inheritance	-	OMIM:617761
153241	CEP120	HP:0000007	Autosomal recessive inheritance	-	OMIM:616300
153241	CEP120	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
153241	CEP120	HP:0001337	Tremor	HP:0040283	ORPHA:220493
153241	CEP120	HP:0001337	Tremor	HP:0040283	ORPHA:475
153241	CEP120	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
153241	CEP120	HP:0001305	Dandy-Walker malformation	1/2	OMIM:616300
153241	CEP120	HP:0002652	Skeletal dysplasia	HP:0040281	ORPHA:474
153241	CEP120	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:220493
153241	CEP120	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
153241	CEP120	HP:0002650	Scoliosis	HP:0040283	ORPHA:220493
153241	CEP120	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
153241	CEP120	HP:0002650	Scoliosis	12/14	OMIM:131300
153241	CEP120	HP:0001321	Cerebellar hypoplasia	1/2	OMIM:616300
153241	CEP120	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
153241	CEP120	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:474
153241	CEP120	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
153241	CEP120	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
153241	CEP120	HP:0008905	Rhizomelia	-	OMIM:616300
153241	CEP120	HP:0000180	Lobulated tongue	1/2	OMIM:616300
153241	CEP120	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
153241	CEP120	HP:0000175	Cleft palate	HP:0040283	ORPHA:220493
153241	CEP120	HP:0000175	Cleft palate	2/7	OMIM:615777
153241	CEP120	HP:0000175	Cleft palate	-	OMIM:616300
153241	CEP120	HP:0410030	Cleft lip	-	OMIM:616300
153241	CEP120	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
153241	CEP120	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:220493
153241	CEP120	HP:0000112	Nephropathy	HP:0040283	ORPHA:474
153241	CEP120	HP:0000107	Renal cyst	-	OMIM:616300
153241	CEP120	HP:0002023	Anal atresia	-	OMIM:616300
153241	CEP120	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
153241	CEP120	HP:0011800	Midface retrusion	-	OMIM:616300
153241	CEP120	HP:0011802	Hamartoma of tongue	1/2	OMIM:616300
153241	CEP120	HP:0002089	Pulmonary hypoplasia	-	OMIM:616300
153241	CEP120	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
153241	CEP120	HP:0002084	Encephalocele	HP:0040283	ORPHA:220493
153241	CEP120	HP:0002084	Encephalocele	-	OMIM:616300
153241	CEP120	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:474
153241	CEP120	HP:0002093	Respiratory insufficiency	-	OMIM:616300
153241	CEP120	HP:0002078	Truncal ataxia	2/4	OMIM:617761
153241	CEP120	HP:0002079	Hypoplasia of the corpus callosum	1/4	OMIM:617761
153241	CEP120	HP:0003375	Narrow greater sciatic notch	1/2	OMIM:616300
153241	CEP120	HP:0003388	Easy fatigability	36/76	OMIM:131300
153241	CEP120	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
153241	CEP120	HP:0003468	Abnormal vertebral morphology	HP:0040283	ORPHA:220493
153241	CEP120	HP:0002119	Ventriculomegaly	1/4	OMIM:617761
153241	CEP120	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:220493
153241	CEP120	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
153241	CEP120	HP:0002104	Apnea	HP:0040281	ORPHA:220493
153241	CEP120	HP:0002104	Apnea	HP:0040281	ORPHA:475
153241	CEP120	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:474
153241	CEP120	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
153241	CEP120	HP:0003577	Congenital onset	2/2	OMIM:616300
153241	CEP120	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:220493
153241	CEP120	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
153241	CEP120	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:220493
153241	CEP120	HP:0003510	Severe short stature	7/7	OMIM:615777
153241	CEP120	HP:0002315	Headache	-	OMIM:131300
153241	CEP120	HP:0004976	Knee dislocation	6/7	OMIM:615777
153241	CEP120	HP:0009803	Short phalanx of finger	-	OMIM:615777
153241	CEP120	HP:0009763	Limb pain	63/92	OMIM:131300
153241	CEP120	HP:0003623	Neonatal onset	4/4	OMIM:617761
153241	CEP120	HP:0003621	Juvenile onset	-	OMIM:131300
153241	CEP120	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
153241	CEP120	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
153241	CEP120	HP:0000639	Nystagmus	HP:0040282	ORPHA:220493
153241	CEP120	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
153241	CEP120	HP:0000639	Nystagmus	1/4	OMIM:617761
153241	CEP120	HP:6001056	Out-toeing	-	OMIM:131300
153241	CEP120	HP:0000651	Diplopia	-	OMIM:131300
153241	CEP120	HP:0000612	Iris coloboma	HP:0040283	ORPHA:220493
153241	CEP120	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
153241	CEP120	HP:0001956	Truncal obesity	2/7	OMIM:615777
153241	CEP120	HP:0001903	Anemia	HP:0040283	OMIM:131300
153241	CEP120	HP:0010049	Short metacarpal	-	OMIM:615777
153241	CEP120	HP:0011340	Incomplete cleft of the upper lip	1/2	OMIM:616300
153241	CEP120	HP:0000678	Dental crowding	-	OMIM:615777
153241	CEP120	HP:0000695	Natal tooth	-	OMIM:616300
153241	CEP120	HP:0011315	Unicoronal synostosis	-	OMIM:616300
153241	CEP120	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:220493
153241	CEP120	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
153241	CEP120	HP:0000657	Oculomotor apraxia	1/4	OMIM:617761
153241	CEP120	HP:0000670	Carious teeth	-	OMIM:131300
153241	CEP120	HP:0011304	Broad thumb	2/7	OMIM:615777
153241	CEP120	HP:0000668	Hypodontia	-	OMIM:615777
153241	CEP120	HP:0000664	Synophrys	-	OMIM:615777
153241	CEP120	HP:0004322	Short stature	HP:0040283	ORPHA:474
153241	CEP120	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:220493
153241	CEP120	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
153241	CEP120	HP:0004396	Poor appetite	-	OMIM:131300
153241	CEP120	HP:0003038	Fibular hypoplasia	1/2	OMIM:616300
153241	CEP120	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
153241	CEP120	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
153241	CEP120	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
153241	CEP120	HP:0003026	Short long bone	7/7	OMIM:615777
153241	CEP120	HP:0003026	Short long bone	2/2	OMIM:616300
153241	CEP120	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
153241	CEP120	HP:0000772	Abnormal rib morphology	HP:0040281	ORPHA:474
153241	CEP120	HP:0000767	Pectus excavatum	2/7	OMIM:615777
153241	CEP120	HP:0000766	Abnormal sternum morphology	HP:0040282	ORPHA:474
153241	CEP120	HP:0000768	Pectus carinatum	1/7	OMIM:615777
153241	CEP120	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
153241	CEP120	HP:0000750	Delayed speech and language development	-	OMIM:615777
153241	CEP120	HP:0011461	Fetal onset	7/7	OMIM:615777
153241	CEP120	HP:0000774	Narrow chest	HP:0040281	ORPHA:474
153241	CEP120	HP:0000774	Narrow chest	2/7	OMIM:615777
153241	CEP120	HP:0000774	Narrow chest	2/2	OMIM:616300
153241	CEP120	HP:0000773	Short ribs	2/2	OMIM:616300
153241	CEP120	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
153241	CEP120	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:220493
153241	CEP120	HP:0005736	Short tibia	1/2	OMIM:616300
153241	CEP120	HP:0000926	Platyspondyly	1/7	OMIM:615777
153241	CEP120	HP:0003177	Squared iliac bones	-	OMIM:616300
153241	CEP120	HP:0003180	Flat acetabular roof	-	OMIM:616300
153241	CEP120	HP:0003180	Flat acetabular roof	-	OMIM:615777
153241	CEP120	HP:0004482	Relative macrocephaly	1/2	OMIM:616300
153241	CEP120	HP:0004482	Relative macrocephaly	-	OMIM:615777
153241	CEP120	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
153241	CEP120	HP:0000888	Horizontal ribs	2/2	OMIM:616300
153241	CEP120	HP:0000889	Abnormal clavicle morphology	HP:0040282	ORPHA:474
153241	CEP120	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
153241	CEP120	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:220493
153241	CEP120	HP:0000823	Delayed puberty	-	OMIM:131300
153241	CEP120	HP:0010297	Bifid tongue	-	OMIM:616300
153241	CEP120	HP:0000894	Short clavicles	-	OMIM:615777
153241	CEP120	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
153241	CEP120	HP:0045075	Sparse eyebrow	1/2	OMIM:616300
153241	CEP120	HP:0100259	Postaxial polydactyly	-	OMIM:616300
153241	CEP120	HP:0100258	Preaxial polydactyly	2/2	OMIM:616300
153241	CEP120	HP:0010306	Short thorax	HP:0040281	ORPHA:474
153241	CEP120	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
153241	CEP120	HP:0000944	Abnormal metaphysis morphology	HP:0040282	ORPHA:474
153241	CEP120	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:474
153241	CEP120	HP:0000286	Epicanthus	1/7	OMIM:615777
153241	CEP120	HP:0000280	Coarse facial features	2/7	OMIM:615777
153241	CEP120	HP:0000280	Coarse facial features	-	OMIM:616300
153241	CEP120	HP:0001591	Bell-shaped thorax	-	OMIM:616300
153241	CEP120	HP:0000276	Long face	HP:0040282	ORPHA:220493
153241	CEP120	HP:0000276	Long face	HP:0040282	ORPHA:475
153241	CEP120	HP:0002827	Hip dislocation	3/7	OMIM:615777
153241	CEP120	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:220493
153241	CEP120	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
153241	CEP120	HP:0000252	Microcephaly	-	OMIM:615777
153241	CEP120	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
153241	CEP120	HP:0002857	Genu valgum	-	OMIM:131300
153241	CEP120	HP:0001539	Omphalocele	1/2	OMIM:616300
153241	CEP120	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
153241	CEP120	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:220493
153241	CEP120	HP:0001533	Slender build	-	OMIM:131300
153241	CEP120	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
153241	CEP120	HP:0007807	Optic nerve compression	-	OMIM:131300
153241	CEP120	HP:0012368	Flat face	7/7	OMIM:615777
153241	CEP120	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
153241	CEP120	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
153241	CEP120	HP:0000365	Hearing impairment	10/67	OMIM:131300
153241	CEP120	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:220493
153241	CEP120	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
153241	CEP120	HP:0000343	Long philtrum	1/7	OMIM:615777
153241	CEP120	HP:0011001	Increased bone mineral density	-	OMIM:131300
153241	CEP120	HP:0002983	Micromelia	HP:0040281	ORPHA:474
153241	CEP120	HP:0001651	Dextrocardia	HP:0040283	ORPHA:220493
153241	CEP120	HP:0000316	Hypertelorism	1/2	OMIM:616300
153241	CEP120	HP:0001643	Patent ductus arteriosus	-	OMIM:616300
153241	CEP120	HP:0000311	Round face	2/7	OMIM:615777
153241	CEP120	HP:0002970	Genu varum	-	OMIM:615777
153241	CEP120	HP:0000308	Microretrognathia	-	OMIM:616300
153241	CEP120	HP:0000303	Mandibular prognathia	-	OMIM:131300
153241	CEP120	HP:0000400	Macrotia	-	OMIM:616300
153241	CEP120	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
153241	CEP120	HP:0000486	Strabismus	HP:0040283	ORPHA:220493
153241	CEP120	HP:0000486	Strabismus	HP:0040283	ORPHA:475
153241	CEP120	HP:0000486	Strabismus	1/4	OMIM:617761
153241	CEP120	HP:0000480	Retinal coloboma	HP:0040283	ORPHA:220493
153241	CEP120	HP:0000463	Anteverted nares	HP:0040283	ORPHA:220493
153241	CEP120	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
153241	CEP120	HP:0000470	Short neck	1/7	OMIM:615777
153241	CEP120	HP:0001770	Toe syndactyly	HP:0040283	ORPHA:474
153241	CEP120	HP:0001773	Short foot	HP:0040282	ORPHA:474
153241	CEP120	HP:0001769	Broad foot	HP:0040283	OMIM:615777
153241	CEP120	HP:0001763	Pes planus	1/7	OMIM:615777
153241	CEP120	HP:0000448	Prominent nose	-	OMIM:616300
153241	CEP120	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:220493
153241	CEP120	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
153241	CEP120	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040283	ORPHA:474
153241	CEP120	HP:0001840	Metatarsus adductus	-	OMIM:615777
153241	CEP120	HP:0000520	Proptosis	2/4	OMIM:131300
153241	CEP120	HP:0000520	Proptosis	7/7	OMIM:615777
153241	CEP120	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
153241	CEP120	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:220493
153241	CEP120	HP:0000508	Ptosis	HP:0040283	ORPHA:220493
153241	CEP120	HP:0000508	Ptosis	HP:0040283	ORPHA:475
153241	CEP120	HP:0001830	Postaxial foot polydactyly	HP:0040283	ORPHA:474
153241	CEP120	HP:0000592	Blue sclerae	2/7	OMIM:615777
153241	CEP120	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:220493
153241	CEP120	HP:0000572	Visual loss	HP:0040283	ORPHA:220493
153241	CEP120	HP:0000568	Microphthalmia	-	OMIM:616300
153241	CEP120	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
153241	CEP120	HP:0012514	Lower limb pain	4/4	OMIM:131300
153562	MARVELD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:610153
153562	MARVELD2	HP:0003577	Congenital onset	-	OMIM:610153
153562	MARVELD2	HP:0000399	Prelingual sensorineural hearing impairment	-	OMIM:610153
153642	ARSK	HP:0100832	Vitreous floaters	2/4	OMIM:619698
153642	ARSK	HP:0001385	Hip dysplasia	4/4	OMIM:619698
153642	ARSK	HP:0008833	Irregular acetabular roof	-	OMIM:619698
153642	ARSK	HP:0000007	Autosomal recessive inheritance	-	OMIM:619698
153642	ARSK	HP:0002650	Scoliosis	3/4	OMIM:619698
153642	ARSK	HP:0003307	Hyperlordosis	2/4	OMIM:619698
153642	ARSK	HP:0008301	Dermatan sulfate excretion in urine	4/4	OMIM:619698
153642	ARSK	HP:0003521	Disproportionate short-trunk short stature	4/4	OMIM:619698
153642	ARSK	HP:0010807	Open bite	2/4	OMIM:619698
153642	ARSK	HP:0000699	Diastema	1/4	OMIM:619698
153642	ARSK	HP:0000687	Widely spaced teeth	2/4	OMIM:619698
153642	ARSK	HP:0011463	Childhood onset	4/4	OMIM:619698
153642	ARSK	HP:0000787	Nephrolithiasis	1/4	OMIM:619698
153642	ARSK	HP:0000916	Broad clavicles	4/4	OMIM:619698
153642	ARSK	HP:0000926	Platyspondyly	4/4	OMIM:619698
153642	ARSK	HP:0000885	Broad ribs	4/4	OMIM:619698
153642	ARSK	HP:0004568	Beaking of vertebral bodies	4/4	OMIM:619698
153642	ARSK	HP:0000280	Coarse facial features	4/4	OMIM:619698
153642	ARSK	HP:0005121	Posterior scalloping of vertebral bodies	4/4	OMIM:619698
153642	ARSK	HP:0002857	Genu valgum	4/4	OMIM:619698
153642	ARSK	HP:0000343	Long philtrum	2/4	OMIM:619698
153642	ARSK	HP:0001650	Aortic valve stenosis	2/4	OMIM:619698
153642	ARSK	HP:0012307	Spatulate ribs	4/4	OMIM:619698
153642	ARSK	HP:0001659	Aortic regurgitation	2/4	OMIM:619698
153642	ARSK	HP:0001712	Left ventricular hypertrophy	1/4	OMIM:619698
153642	ARSK	HP:0031568	Thickened aortic valve cusp	2/4	OMIM:619698
153642	ARSK	HP:0000431	Wide nasal bridge	2/4	OMIM:619698
154197	PNLDC1	HP:0008734	Decreased testicular size	4/4	OMIM:619528
154197	PNLDC1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
154197	PNLDC1	HP:0031038	Spermatogenesis maturation arrest	4/4	OMIM:619528
154197	PNLDC1	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
154197	PNLDC1	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
154197	PNLDC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619528
154197	PNLDC1	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
154197	PNLDC1	HP:0011961	Non-obstructive azoospermia	4/4	OMIM:619528
154197	PNLDC1	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
154197	PNLDC1	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
154197	PNLDC1	HP:0011462	Young adult onset	4/4	OMIM:619528
154197	PNLDC1	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
154197	PNLDC1	HP:0003251	Male infertility	4/4	OMIM:619528
154288	KHDC3L	HP:0000007	Autosomal recessive inheritance	-	OMIM:614293
154288	KHDC3L	HP:0032192	Hydatidiform mole	3/3	OMIM:614293
154881	KCTD7	HP:0007272	Progressive psychomotor deterioration	HP:0040282	ORPHA:263516
154881	KCTD7	HP:0007221	Progressive truncal ataxia	HP:0040282	ORPHA:263516
154881	KCTD7	HP:0001272	Cerebellar atrophy	2/2	OMIM:611726
154881	KCTD7	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:263516
154881	KCTD7	HP:0001249	Intellectual disability	3/3	OMIM:611726
154881	KCTD7	HP:0001249	Intellectual disability	HP:0040282	ORPHA:263516
154881	KCTD7	HP:0001260	Dysarthria	3/3	OMIM:611726
154881	KCTD7	HP:0001260	Dysarthria	HP:0040282	ORPHA:263516
154881	KCTD7	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:263516
154881	KCTD7	HP:0007334	Bilateral tonic-clonic seizure with focal onset	2/3	OMIM:611726
154881	KCTD7	HP:0001327	Photosensitive myoclonic seizure	HP:0040283	ORPHA:263516
154881	KCTD7	HP:0001344	Absent speech	2/2	OMIM:611726
154881	KCTD7	HP:0000007	Autosomal recessive inheritance	-	OMIM:611726
154881	KCTD7	HP:0001336	Myoclonus	HP:0040282	ORPHA:263516
154881	KCTD7	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:263516
154881	KCTD7	HP:0002078	Truncal ataxia	3/3	OMIM:611726
154881	KCTD7	HP:0002079	Hypoplasia of the corpus callosum	1/2	OMIM:611726
154881	KCTD7	HP:0002073	Progressive cerebellar ataxia	HP:0040283	ORPHA:263516
154881	KCTD7	HP:0002059	Cerebral atrophy	2/2	OMIM:611726
154881	KCTD7	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:263516
154881	KCTD7	HP:0002123	Generalized myoclonic seizure	-	OMIM:611726
154881	KCTD7	HP:0003593	Infantile onset	2/2	OMIM:611726
154881	KCTD7	HP:0002376	Developmental regression	HP:0040282	ORPHA:263516
154881	KCTD7	HP:0002376	Developmental regression	2/2	OMIM:611726
154881	KCTD7	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:263516
154881	KCTD7	HP:0003676	Progressive	-	OMIM:611726
154881	KCTD7	HP:0000648	Optic atrophy	1/2	OMIM:611726
154881	KCTD7	HP:0000648	Optic atrophy	HP:0040283	ORPHA:263516
154881	KCTD7	HP:0000726	Dementia	HP:0040283	ORPHA:263516
154881	KCTD7	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	-	OMIM:611726
154881	KCTD7	HP:0045084	Limb myoclonus	HP:0040283	ORPHA:263516
154881	KCTD7	HP:0000252	Microcephaly	2/2	OMIM:611726
154881	KCTD7	HP:0000252	Microcephaly	HP:0040283	ORPHA:263516
154881	KCTD7	HP:0032667	Myoclonic status epilepticus	1/3	OMIM:611726
154881	KCTD7	HP:0032794	Myoclonic seizure	-	OMIM:611726
154881	KCTD7	HP:0011185	EEG with focal epileptiform discharges	HP:0040283	ORPHA:263516
154881	KCTD7	HP:0011188	Focal EEG discharges with secondary generalization	HP:0040282	ORPHA:263516
154881	KCTD7	HP:0011166	Focal myoclonic seizure	HP:0040282	ORPHA:263516
154881	KCTD7	HP:0012462	Chin myoclonus	HP:0040283	ORPHA:263516
154881	KCTD7	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:263516
154881	KCTD7	HP:0000572	Visual loss	HP:0040283	OMIM:611726
155368	METTL27	HP:0001181	Adducted thumb	HP:0040283	ORPHA:904
155368	METTL27	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:904
155368	METTL27	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:904
155368	METTL27	HP:0001297	Stroke	HP:0040282	ORPHA:904
155368	METTL27	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:904
155368	METTL27	HP:0001288	Gait disturbance	HP:0040281	ORPHA:904
155368	METTL27	HP:0001252	Hypotonia	HP:0040282	ORPHA:904
155368	METTL27	HP:0001251	Ataxia	HP:0040281	ORPHA:904
155368	METTL27	HP:0001249	Intellectual disability	HP:0040281	ORPHA:904
155368	METTL27	HP:0001260	Dysarthria	HP:0040283	ORPHA:904
155368	METTL27	HP:0001257	Spasticity	HP:0040282	ORPHA:904
155368	METTL27	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:904
155368	METTL27	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:904
155368	METTL27	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:904
155368	METTL27	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040283	ORPHA:904
155368	METTL27	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:904
155368	METTL27	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:904
155368	METTL27	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:904
155368	METTL27	HP:0000093	Proteinuria	HP:0040282	ORPHA:904
155368	METTL27	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:904
155368	METTL27	HP:0000075	Renal duplication	HP:0040283	ORPHA:904
155368	METTL27	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:904
155368	METTL27	HP:0001387	Joint stiffness	HP:0040282	ORPHA:904
155368	METTL27	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:904
155368	METTL27	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:904
155368	METTL27	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:904
155368	METTL27	HP:0000014	Abnormality of the bladder	HP:0040282	ORPHA:904
155368	METTL27	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:904
155368	METTL27	HP:0001361	Nystagmus-induced head nodding	HP:0040282	ORPHA:904
155368	METTL27	HP:0000025	Functional abnormality of male internal genitalia	HP:0040283	ORPHA:904
155368	METTL27	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:904
155368	METTL27	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:904
155368	METTL27	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:904
155368	METTL27	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:904
155368	METTL27	HP:0001337	Tremor	HP:0040281	ORPHA:904
155368	METTL27	HP:0001310	Dysmetria	HP:0040281	ORPHA:904
155368	METTL27	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:904
155368	METTL27	HP:0002650	Scoliosis	HP:0040283	ORPHA:904
155368	METTL27	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:904
155368	METTL27	HP:0002623	Overriding aorta	HP:0040283	ORPHA:904
155368	METTL27	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:904
155368	METTL27	HP:0000158	Macroglossia	HP:0040281	ORPHA:904
155368	METTL27	HP:0000154	Wide mouth	HP:0040281	ORPHA:904
155368	METTL27	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:904
155368	METTL27	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:904
155368	METTL27	HP:0000125	Pelvic kidney	HP:0040282	ORPHA:904
155368	METTL27	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:904
155368	METTL27	HP:0002024	Malabsorption	HP:0040283	ORPHA:904
155368	METTL27	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:904
155368	METTL27	HP:0002019	Constipation	HP:0040282	ORPHA:904
155368	METTL27	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:904
155368	METTL27	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:904
155368	METTL27	HP:0002027	Abdominal pain	HP:0040281	ORPHA:904
155368	METTL27	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:904
155368	METTL27	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:904
155368	METTL27	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:904
155368	METTL27	HP:0100539	Periorbital edema	HP:0040281	ORPHA:904
155368	METTL27	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:904
155368	METTL27	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:904
155368	METTL27	HP:0002141	Gait imbalance	HP:0040281	ORPHA:904
155368	METTL27	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:904
155368	METTL27	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:904
155368	METTL27	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:904
155368	METTL27	HP:0002183	Phonophobia	HP:0040281	ORPHA:904
155368	METTL27	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:904
155368	METTL27	HP:0010526	Dysgraphia	HP:0040281	ORPHA:904
155368	METTL27	HP:0002253	Colonic diverticula	HP:0040282	ORPHA:904
155368	METTL27	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:904
155368	METTL27	HP:0100785	Insomnia	HP:0040282	ORPHA:904
155368	METTL27	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:904
155368	METTL27	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:904
155368	METTL27	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:904
155368	METTL27	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:904
155368	METTL27	HP:0002376	Developmental regression	HP:0040283	ORPHA:904
155368	METTL27	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:904
155368	METTL27	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:904
155368	METTL27	HP:0010807	Open bite	HP:0040281	ORPHA:904
155368	METTL27	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:904
155368	METTL27	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:904
155368	METTL27	HP:0008499	High hypermetropia	HP:0040281	ORPHA:904
155368	METTL27	HP:0010780	Hyperacusis	HP:0040281	ORPHA:904
155368	METTL27	HP:0002308	Chiari malformation	HP:0040283	ORPHA:904
155368	METTL27	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:904
155368	METTL27	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:904
155368	METTL27	HP:0004295	Abnormal gastric mucosa morphology	HP:0040283	ORPHA:904
155368	METTL27	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:904
155368	METTL27	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040283	ORPHA:904
155368	METTL27	HP:0000635	Blue irides	HP:0040283	ORPHA:904
155368	METTL27	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:904
155368	METTL27	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:904
155368	METTL27	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:904
155368	METTL27	HP:0000691	Microdontia	HP:0040282	ORPHA:904
155368	METTL27	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:904
155368	METTL27	HP:0000670	Carious teeth	HP:0040283	ORPHA:904
155368	METTL27	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:904
155368	METTL27	HP:0000668	Hypodontia	HP:0040282	ORPHA:904
155368	METTL27	HP:0004322	Short stature	HP:0040281	ORPHA:904
155368	METTL27	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:904
155368	METTL27	HP:0004305	Involuntary movements	HP:0040281	ORPHA:904
155368	METTL27	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:904
155368	METTL27	HP:0004381	Supravalvular aortic stenosis	HP:0040282	ORPHA:904
155368	METTL27	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:904
155368	METTL27	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:904
155368	METTL27	HP:0100025	Overfriendliness	HP:0040281	ORPHA:904
155368	METTL27	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:904
155368	METTL27	HP:0000739	Anxiety	HP:0040281	ORPHA:904
155368	METTL27	HP:0000716	Depression	HP:0040281	ORPHA:904
155368	METTL27	HP:0000717	Autism	HP:0040282	ORPHA:904
155368	METTL27	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:904
155368	METTL27	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:904
155368	METTL27	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:904
155368	METTL27	HP:0004428	Elfin facies	HP:0040281	ORPHA:904
155368	METTL27	HP:0003198	Myopathy	HP:0040283	ORPHA:904
155368	METTL27	HP:0003196	Short nose	HP:0040281	ORPHA:904
155368	METTL27	HP:0000826	Precocious puberty	HP:0040283	ORPHA:904
155368	METTL27	HP:0000822	Hypertension	HP:0040282	ORPHA:904
155368	METTL27	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:904
155368	METTL27	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:904
155368	METTL27	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:904
155368	METTL27	HP:0000960	Sacral dimple	HP:0040282	ORPHA:904
155368	METTL27	HP:0000939	Osteoporosis	HP:0040283	ORPHA:904
155368	METTL27	HP:0000938	Osteopenia	HP:0040283	ORPHA:904
155368	METTL27	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:904
155368	METTL27	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:904
155368	METTL27	HP:0007720	Flat cornea	HP:0040283	ORPHA:904
155368	METTL27	HP:0000286	Epicanthus	HP:0040281	ORPHA:904
155368	METTL27	HP:0000280	Coarse facial features	HP:0040281	ORPHA:904
155368	METTL27	HP:0000275	Narrow face	HP:0040281	ORPHA:904
155368	METTL27	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:904
155368	METTL27	HP:0002829	Arthralgia	HP:0040282	ORPHA:904
155368	METTL27	HP:0002808	Kyphosis	HP:0040282	ORPHA:904
155368	METTL27	HP:0000252	Microcephaly	HP:0040282	ORPHA:904
155368	METTL27	HP:0001582	Redundant skin	HP:0040282	ORPHA:904
155368	METTL27	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:904
155368	METTL27	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:904
155368	METTL27	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:904
155368	METTL27	HP:0002857	Genu valgum	HP:0040282	ORPHA:904
155368	METTL27	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:904
155368	METTL27	HP:0001513	Obesity	HP:0040282	ORPHA:904
155368	METTL27	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:904
155368	METTL27	HP:0001609	Hoarse voice	HP:0040281	ORPHA:904
155368	METTL27	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:904
155368	METTL27	HP:0001618	Dysphonia	HP:0040283	ORPHA:904
155368	METTL27	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:904
155368	METTL27	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:904
155368	METTL27	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:904
155368	METTL27	HP:0000343	Long philtrum	HP:0040281	ORPHA:904
155368	METTL27	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:904
155368	METTL27	HP:0000337	Broad forehead	HP:0040281	ORPHA:904
155368	METTL27	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:904
155368	METTL27	HP:0000348	High forehead	HP:0040281	ORPHA:904
155368	METTL27	HP:0000347	Micrognathia	HP:0040281	ORPHA:904
155368	METTL27	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:904
155368	METTL27	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:904
155368	METTL27	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:904
155368	METTL27	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:904
155368	METTL27	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:904
155368	METTL27	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:904
155368	METTL27	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:904
155368	METTL27	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:904
155368	METTL27	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:904
155368	METTL27	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:904
155368	METTL27	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:904
155368	METTL27	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:904
155368	METTL27	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:904
155368	METTL27	HP:0000307	Pointed chin	HP:0040281	ORPHA:904
155368	METTL27	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:904
155368	METTL27	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:904
155368	METTL27	HP:0007957	Corneal opacity	HP:0040283	ORPHA:904
155368	METTL27	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:904
155368	METTL27	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:904
155368	METTL27	HP:0000400	Macrotia	HP:0040281	ORPHA:904
155368	METTL27	HP:0000486	Strabismus	HP:0040282	ORPHA:904
155368	METTL27	HP:0000485	Megalocornea	HP:0040283	ORPHA:904
155368	METTL27	HP:0000464	Abnormality of the neck	HP:0040281	ORPHA:904
155368	METTL27	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:904
155368	METTL27	HP:0001763	Pes planus	HP:0040282	ORPHA:904
155368	METTL27	HP:0000411	Protruding ear	HP:0040281	ORPHA:904
155368	METTL27	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:904
155368	METTL27	HP:0000518	Cataract	HP:0040283	ORPHA:904
155368	METTL27	HP:0001822	Hallux valgus	HP:0040282	ORPHA:904
155368	METTL27	HP:0000505	Visual impairment	HP:0040282	ORPHA:904
155368	METTL27	HP:0000501	Glaucoma	HP:0040283	ORPHA:904
155368	METTL27	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:904
155368	METTL27	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:904
155368	METTL27	HP:0000545	Myopia	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001181	Adducted thumb	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:904
155382	VPS37D	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001297	Stroke	HP:0040282	ORPHA:904
155382	VPS37D	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:904
155382	VPS37D	HP:0001288	Gait disturbance	HP:0040281	ORPHA:904
155382	VPS37D	HP:0001252	Hypotonia	HP:0040282	ORPHA:904
155382	VPS37D	HP:0001251	Ataxia	HP:0040281	ORPHA:904
155382	VPS37D	HP:0001249	Intellectual disability	HP:0040281	ORPHA:904
155382	VPS37D	HP:0001260	Dysarthria	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001257	Spasticity	HP:0040282	ORPHA:904
155382	VPS37D	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:904
155382	VPS37D	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:904
155382	VPS37D	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:904
155382	VPS37D	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040283	ORPHA:904
155382	VPS37D	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000093	Proteinuria	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000075	Renal duplication	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001387	Joint stiffness	HP:0040282	ORPHA:904
155382	VPS37D	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000014	Abnormality of the bladder	HP:0040282	ORPHA:904
155382	VPS37D	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:904
155382	VPS37D	HP:0001361	Nystagmus-induced head nodding	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000025	Functional abnormality of male internal genitalia	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:904
155382	VPS37D	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:904
155382	VPS37D	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001337	Tremor	HP:0040281	ORPHA:904
155382	VPS37D	HP:0001310	Dysmetria	HP:0040281	ORPHA:904
155382	VPS37D	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:904
155382	VPS37D	HP:0002650	Scoliosis	HP:0040283	ORPHA:904
155382	VPS37D	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:904
155382	VPS37D	HP:0002623	Overriding aorta	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:904
155382	VPS37D	HP:0000158	Macroglossia	HP:0040281	ORPHA:904
155382	VPS37D	HP:0000154	Wide mouth	HP:0040281	ORPHA:904
155382	VPS37D	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000125	Pelvic kidney	HP:0040282	ORPHA:904
155382	VPS37D	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:904
155382	VPS37D	HP:0002024	Malabsorption	HP:0040283	ORPHA:904
155382	VPS37D	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:904
155382	VPS37D	HP:0002019	Constipation	HP:0040282	ORPHA:904
155382	VPS37D	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:904
155382	VPS37D	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:904
155382	VPS37D	HP:0002027	Abdominal pain	HP:0040281	ORPHA:904
155382	VPS37D	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:904
155382	VPS37D	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:904
155382	VPS37D	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:904
155382	VPS37D	HP:0100539	Periorbital edema	HP:0040281	ORPHA:904
155382	VPS37D	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:904
155382	VPS37D	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:904
155382	VPS37D	HP:0002141	Gait imbalance	HP:0040281	ORPHA:904
155382	VPS37D	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:904
155382	VPS37D	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:904
155382	VPS37D	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:904
155382	VPS37D	HP:0002183	Phonophobia	HP:0040281	ORPHA:904
155382	VPS37D	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:904
155382	VPS37D	HP:0010526	Dysgraphia	HP:0040281	ORPHA:904
155382	VPS37D	HP:0002253	Colonic diverticula	HP:0040282	ORPHA:904
155382	VPS37D	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:904
155382	VPS37D	HP:0100785	Insomnia	HP:0040282	ORPHA:904
155382	VPS37D	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:904
155382	VPS37D	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:904
155382	VPS37D	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:904
155382	VPS37D	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:904
155382	VPS37D	HP:0002376	Developmental regression	HP:0040283	ORPHA:904
155382	VPS37D	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:904
155382	VPS37D	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:904
155382	VPS37D	HP:0010807	Open bite	HP:0040281	ORPHA:904
155382	VPS37D	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:904
155382	VPS37D	HP:0008499	High hypermetropia	HP:0040281	ORPHA:904
155382	VPS37D	HP:0010780	Hyperacusis	HP:0040281	ORPHA:904
155382	VPS37D	HP:0002308	Chiari malformation	HP:0040283	ORPHA:904
155382	VPS37D	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:904
155382	VPS37D	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:904
155382	VPS37D	HP:0004295	Abnormal gastric mucosa morphology	HP:0040283	ORPHA:904
155382	VPS37D	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000635	Blue irides	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000691	Microdontia	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000670	Carious teeth	HP:0040283	ORPHA:904
155382	VPS37D	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:904
155382	VPS37D	HP:0000668	Hypodontia	HP:0040282	ORPHA:904
155382	VPS37D	HP:0004322	Short stature	HP:0040281	ORPHA:904
155382	VPS37D	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:904
155382	VPS37D	HP:0004305	Involuntary movements	HP:0040281	ORPHA:904
155382	VPS37D	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:904
155382	VPS37D	HP:0004381	Supravalvular aortic stenosis	HP:0040282	ORPHA:904
155382	VPS37D	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:904
155382	VPS37D	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:904
155382	VPS37D	HP:0100025	Overfriendliness	HP:0040281	ORPHA:904
155382	VPS37D	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000739	Anxiety	HP:0040281	ORPHA:904
155382	VPS37D	HP:0000716	Depression	HP:0040281	ORPHA:904
155382	VPS37D	HP:0000717	Autism	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:904
155382	VPS37D	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:904
155382	VPS37D	HP:0004428	Elfin facies	HP:0040281	ORPHA:904
155382	VPS37D	HP:0003198	Myopathy	HP:0040283	ORPHA:904
155382	VPS37D	HP:0003196	Short nose	HP:0040281	ORPHA:904
155382	VPS37D	HP:0000826	Precocious puberty	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000822	Hypertension	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:904
155382	VPS37D	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:904
155382	VPS37D	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000960	Sacral dimple	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000939	Osteoporosis	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000938	Osteopenia	HP:0040283	ORPHA:904
155382	VPS37D	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:904
155382	VPS37D	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:904
155382	VPS37D	HP:0007720	Flat cornea	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000286	Epicanthus	HP:0040281	ORPHA:904
155382	VPS37D	HP:0000280	Coarse facial features	HP:0040281	ORPHA:904
155382	VPS37D	HP:0000275	Narrow face	HP:0040281	ORPHA:904
155382	VPS37D	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:904
155382	VPS37D	HP:0002829	Arthralgia	HP:0040282	ORPHA:904
155382	VPS37D	HP:0002808	Kyphosis	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000252	Microcephaly	HP:0040282	ORPHA:904
155382	VPS37D	HP:0001582	Redundant skin	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:904
155382	VPS37D	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:904
155382	VPS37D	HP:0002857	Genu valgum	HP:0040282	ORPHA:904
155382	VPS37D	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001513	Obesity	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:904
155382	VPS37D	HP:0001609	Hoarse voice	HP:0040281	ORPHA:904
155382	VPS37D	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:904
155382	VPS37D	HP:0001618	Dysphonia	HP:0040283	ORPHA:904
155382	VPS37D	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:904
155382	VPS37D	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000343	Long philtrum	HP:0040281	ORPHA:904
155382	VPS37D	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000337	Broad forehead	HP:0040281	ORPHA:904
155382	VPS37D	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000348	High forehead	HP:0040281	ORPHA:904
155382	VPS37D	HP:0000347	Micrognathia	HP:0040281	ORPHA:904
155382	VPS37D	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:904
155382	VPS37D	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:904
155382	VPS37D	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:904
155382	VPS37D	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:904
155382	VPS37D	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000307	Pointed chin	HP:0040281	ORPHA:904
155382	VPS37D	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:904
155382	VPS37D	HP:0007957	Corneal opacity	HP:0040283	ORPHA:904
155382	VPS37D	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000400	Macrotia	HP:0040281	ORPHA:904
155382	VPS37D	HP:0000486	Strabismus	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000485	Megalocornea	HP:0040283	ORPHA:904
155382	VPS37D	HP:0000464	Abnormality of the neck	HP:0040281	ORPHA:904
155382	VPS37D	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:904
155382	VPS37D	HP:0001763	Pes planus	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000411	Protruding ear	HP:0040281	ORPHA:904
155382	VPS37D	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:904
155382	VPS37D	HP:0000518	Cataract	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001822	Hallux valgus	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000505	Visual impairment	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000501	Glaucoma	HP:0040283	ORPHA:904
155382	VPS37D	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:904
155382	VPS37D	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:904
155382	VPS37D	HP:0000545	Myopia	HP:0040283	ORPHA:904
157570	ESCO2	HP:0001156	Brachydactyly	HP:0040282	ORPHA:3103
157570	ESCO2	HP:0001156	Brachydactyly	-	OMIM:268300
157570	ESCO2	HP:0001167	Abnormal finger morphology	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0001159	Syndactyly	-	OMIM:268300
157570	ESCO2	HP:0009943	Complete duplication of thumb phalanx	HP:0040281	ORPHA:3103
157570	ESCO2	HP:0009933	Narrow naris	-	OMIM:268300
157570	ESCO2	HP:0001191	Abnormal carpal morphology	-	OMIM:216100
157570	ESCO2	HP:0009891	Underdeveloped supraorbital ridges	HP:0040282	ORPHA:3103
157570	ESCO2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
157570	ESCO2	HP:0001293	Cranial nerve compression	-	OMIM:131300
157570	ESCO2	HP:0001252	Hypotonia	2/7	OMIM:615777
157570	ESCO2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0001249	Intellectual disability	-	OMIM:268300
157570	ESCO2	HP:0001249	Intellectual disability	-	OMIM:216100
157570	ESCO2	HP:0001249	Intellectual disability	HP:0040282	ORPHA:3103
157570	ESCO2	HP:0001249	Intellectual disability	5/7	OMIM:615777
157570	ESCO2	HP:0001263	Global developmental delay	HP:0040282	ORPHA:3103
157570	ESCO2	HP:0001263	Global developmental delay	-	OMIM:615777
157570	ESCO2	HP:0001239	Wrist flexion contracture	HP:0040283	ORPHA:3103
157570	ESCO2	HP:0001239	Wrist flexion contracture	-	OMIM:268300
157570	ESCO2	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:3103
157570	ESCO2	HP:0008683	Enlarged labia minora	-	OMIM:268300
157570	ESCO2	HP:0007330	Frontoethmoidal encephalocele	-	OMIM:268300
157570	ESCO2	HP:0008665	Clitoral hypertrophy	HP:0040282	ORPHA:3103
157570	ESCO2	HP:0008665	Clitoral hypertrophy	-	OMIM:268300
157570	ESCO2	HP:0002553	Highly arched eyebrow	-	OMIM:216100
157570	ESCO2	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0002515	Waddling gait	54/102	OMIM:131300
157570	ESCO2	HP:0003826	Stillbirth	HP:0040283	OMIM:268300
157570	ESCO2	HP:0000085	Horseshoe kidney	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0000085	Horseshoe kidney	-	OMIM:268300
157570	ESCO2	HP:0000085	Horseshoe kidney	-	OMIM:216100
157570	ESCO2	HP:0001377	Limited elbow extension	-	OMIM:216100
157570	ESCO2	HP:0000040	Long penis	-	OMIM:268300
157570	ESCO2	HP:0000040	Long penis	HP:0040282	ORPHA:3103
157570	ESCO2	HP:0001382	Joint hypermobility	-	OMIM:615777
157570	ESCO2	HP:0000047	Hypospadias	-	OMIM:268300
157570	ESCO2	HP:0000047	Hypospadias	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:3103
157570	ESCO2	HP:0001363	Craniosynostosis	-	OMIM:268300
157570	ESCO2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
157570	ESCO2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3103
157570	ESCO2	HP:0000028	Cryptorchidism	-	OMIM:268300
157570	ESCO2	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:3103
157570	ESCO2	HP:0008897	Postnatal growth retardation	-	OMIM:268300
157570	ESCO2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
157570	ESCO2	HP:0008846	Severe intrauterine growth retardation	-	OMIM:268300
157570	ESCO2	HP:0008846	Severe intrauterine growth retardation	HP:0040281	ORPHA:3103
157570	ESCO2	HP:0007486	Cavernous hemangioma of the face	5/8	OMIM:268300
157570	ESCO2	HP:0007452	Midface capillary hemangioma	-	OMIM:268300
157570	ESCO2	HP:0007452	Midface capillary hemangioma	HP:0040282	ORPHA:3103
157570	ESCO2	HP:0003995	Abnormality of the radial head	-	OMIM:216100
157570	ESCO2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
157570	ESCO2	HP:0001324	Muscle weakness	40/96	OMIM:131300
157570	ESCO2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
157570	ESCO2	HP:0000007	Autosomal recessive inheritance	-	OMIM:268300
157570	ESCO2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
157570	ESCO2	HP:0000007	Autosomal recessive inheritance	-	OMIM:216100
157570	ESCO2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
157570	ESCO2	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:2319
157570	ESCO2	HP:0002650	Scoliosis	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0002650	Scoliosis	12/14	OMIM:131300
157570	ESCO2	HP:0003982	Aplasia of the ulna	3/8	OMIM:268300
157570	ESCO2	HP:0003974	Absent radius	6/7	OMIM:268300
157570	ESCO2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
157570	ESCO2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
157570	ESCO2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
157570	ESCO2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
157570	ESCO2	HP:0000175	Cleft palate	HP:0040282	ORPHA:3103
157570	ESCO2	HP:0000175	Cleft palate	1/7	OMIM:268300
157570	ESCO2	HP:0000175	Cleft palate	2/7	OMIM:615777
157570	ESCO2	HP:0005011	Mesomelic arm shortening	HP:0040281	ORPHA:3103
157570	ESCO2	HP:0007598	Bilateral single transverse palmar creases	HP:0040283	ORPHA:3103
157570	ESCO2	HP:0000113	Polycystic kidney dysplasia	HP:0040283	ORPHA:3103
157570	ESCO2	HP:0000113	Polycystic kidney dysplasia	-	OMIM:268300
157570	ESCO2	HP:0001438	Abnormal abdomen morphology	-	OMIM:216100
157570	ESCO2	HP:0003388	Easy fatigability	36/76	OMIM:131300
157570	ESCO2	HP:0009466	Radial deviation of finger	HP:0040281	ORPHA:3103
157570	ESCO2	HP:0009466	Radial deviation of finger	-	OMIM:268300
157570	ESCO2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
157570	ESCO2	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0005916	Abnormal metacarpal morphology	-	OMIM:268300
157570	ESCO2	HP:0003468	Abnormal vertebral morphology	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0009623	Proximal placement of thumb	HP:0040281	ORPHA:3103
157570	ESCO2	HP:0009601	Aplasia/Hypoplasia of the thumb	HP:0040281	ORPHA:3103
157570	ESCO2	HP:0009601	Aplasia/Hypoplasia of the thumb	-	OMIM:216100
157570	ESCO2	HP:0003577	Congenital onset	8/8	OMIM:268300
157570	ESCO2	HP:0430028	Hyperplasia of the maxilla	5/6	OMIM:268300
157570	ESCO2	HP:0003510	Severe short stature	7/7	OMIM:615777
157570	ESCO2	HP:0003510	Severe short stature	HP:0040281	ORPHA:2319
157570	ESCO2	HP:0002315	Headache	-	OMIM:131300
157570	ESCO2	HP:0004976	Knee dislocation	6/7	OMIM:615777
157570	ESCO2	HP:0009829	Phocomelia	8/8	OMIM:268300
157570	ESCO2	HP:0009829	Phocomelia	HP:0040281	ORPHA:3103
157570	ESCO2	HP:0009811	Abnormality of the elbow	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0009803	Short phalanx of finger	-	OMIM:615777
157570	ESCO2	HP:0001080	Biliary tract abnormality	-	OMIM:268300
157570	ESCO2	HP:0009777	Absent thumb	4/7	OMIM:268300
157570	ESCO2	HP:0009778	Short thumb	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0009763	Limb pain	63/92	OMIM:131300
157570	ESCO2	HP:0003621	Juvenile onset	-	OMIM:131300
157570	ESCO2	HP:0003616	Premature separation of centromeric heterochromatin	-	OMIM:268300
157570	ESCO2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
157570	ESCO2	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:3103
157570	ESCO2	HP:0006824	Cranial nerve paralysis	-	OMIM:268300
157570	ESCO2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
157570	ESCO2	HP:0000639	Nystagmus	HP:0040283	ORPHA:3103
157570	ESCO2	HP:6001056	Out-toeing	-	OMIM:131300
157570	ESCO2	HP:0000651	Diplopia	-	OMIM:131300
157570	ESCO2	HP:0000625	Eyelid coloboma	-	OMIM:268300
157570	ESCO2	HP:0001956	Truncal obesity	2/7	OMIM:615777
157570	ESCO2	HP:0001903	Anemia	HP:0040283	OMIM:131300
157570	ESCO2	HP:0010049	Short metacarpal	-	OMIM:615777
157570	ESCO2	HP:0000678	Dental crowding	-	OMIM:615777
157570	ESCO2	HP:0000670	Carious teeth	-	OMIM:131300
157570	ESCO2	HP:0011304	Broad thumb	2/7	OMIM:615777
157570	ESCO2	HP:0000668	Hypodontia	-	OMIM:615777
157570	ESCO2	HP:0000664	Synophrys	-	OMIM:615777
157570	ESCO2	HP:0004322	Short stature	-	OMIM:216100
157570	ESCO2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:3103
157570	ESCO2	HP:0004396	Poor appetite	-	OMIM:131300
157570	ESCO2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
157570	ESCO2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
157570	ESCO2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
157570	ESCO2	HP:0003026	Short long bone	7/7	OMIM:615777
157570	ESCO2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
157570	ESCO2	HP:0003022	Hypoplasia of the ulna	4/8	OMIM:268300
157570	ESCO2	HP:0003019	Abnormality of the wrist	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
157570	ESCO2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
157570	ESCO2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
157570	ESCO2	HP:0000750	Delayed speech and language development	-	OMIM:615777
157570	ESCO2	HP:0011461	Fetal onset	7/7	OMIM:615777
157570	ESCO2	HP:0000774	Narrow chest	2/7	OMIM:615777
157570	ESCO2	HP:0000926	Platyspondyly	1/7	OMIM:615777
157570	ESCO2	HP:0003180	Flat acetabular roof	-	OMIM:615777
157570	ESCO2	HP:0004482	Relative macrocephaly	-	OMIM:615777
157570	ESCO2	HP:0005792	Short humerus	4/8	OMIM:268300
157570	ESCO2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
157570	ESCO2	HP:0030721	Tetraphocomelia	-	OMIM:268300
157570	ESCO2	HP:0000813	Bicornuate uterus	-	OMIM:268300
157570	ESCO2	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:216100
157570	ESCO2	HP:0000823	Delayed puberty	-	OMIM:131300
157570	ESCO2	HP:0000894	Short clavicles	-	OMIM:615777
157570	ESCO2	HP:0005876	Progressive flexion contractures	HP:0040283	ORPHA:3103
157570	ESCO2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
157570	ESCO2	HP:0000957	Cafe-au-lait spot	-	OMIM:268300
157570	ESCO2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
157570	ESCO2	HP:0008070	Sparse hair	HP:0040281	ORPHA:3103
157570	ESCO2	HP:0008070	Sparse hair	-	OMIM:268300
157570	ESCO2	HP:0009380	Finger aplasia	-	OMIM:268300
157570	ESCO2	HP:0000286	Epicanthus	1/7	OMIM:615777
157570	ESCO2	HP:0000280	Coarse facial features	2/7	OMIM:615777
157570	ESCO2	HP:0000272	Malar flattening	HP:0040281	ORPHA:3103
157570	ESCO2	HP:0000272	Malar flattening	-	OMIM:268300
157570	ESCO2	HP:0006466	Ankle flexion contracture	-	OMIM:268300
157570	ESCO2	HP:0006443	Patellar aplasia	HP:0040283	ORPHA:3103
157570	ESCO2	HP:0007759	Opacification of the corneal stroma	-	OMIM:268300
157570	ESCO2	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:3103
157570	ESCO2	HP:0002827	Hip dislocation	3/7	OMIM:615777
157570	ESCO2	HP:0030084	Clinodactyly	-	OMIM:268300
157570	ESCO2	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:3103
157570	ESCO2	HP:0006380	Knee flexion contracture	-	OMIM:268300
157570	ESCO2	HP:0005048	Synostosis of carpal bones	HP:0040283	ORPHA:3103
157570	ESCO2	HP:0000238	Hydrocephalus	-	OMIM:268300
157570	ESCO2	HP:0000252	Microcephaly	HP:0040281	ORPHA:2319
157570	ESCO2	HP:0000252	Microcephaly	5/6	OMIM:268300
157570	ESCO2	HP:0000252	Microcephaly	-	OMIM:216100
157570	ESCO2	HP:0000252	Microcephaly	HP:0040281	ORPHA:3103
157570	ESCO2	HP:0000252	Microcephaly	-	OMIM:615777
157570	ESCO2	HP:0000248	Brachycephaly	HP:0040281	ORPHA:3103
157570	ESCO2	HP:0000248	Brachycephaly	-	OMIM:268300
157570	ESCO2	HP:0000218	High palate	HP:0040283	ORPHA:3103
157570	ESCO2	HP:0000218	High palate	-	OMIM:268300
157570	ESCO2	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:2319
157570	ESCO2	HP:0001545	Anteriorly placed anus	-	OMIM:216100
157570	ESCO2	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:3103
157570	ESCO2	HP:0001561	Polyhydramnios	-	OMIM:268300
157570	ESCO2	HP:0002857	Genu valgum	-	OMIM:131300
157570	ESCO2	HP:0000202	Orofacial cleft	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0001533	Slender build	-	OMIM:131300
157570	ESCO2	HP:0000204	Cleft upper lip	HP:0040282	ORPHA:3103
157570	ESCO2	HP:0000204	Cleft upper lip	1/8	OMIM:268300
157570	ESCO2	HP:0000204	Cleft upper lip	-	OMIM:216100
157570	ESCO2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
157570	ESCO2	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2319
157570	ESCO2	HP:0007807	Optic nerve compression	-	OMIM:131300
157570	ESCO2	HP:0000387	Absent earlobe	-	OMIM:268300
157570	ESCO2	HP:0000387	Absent earlobe	HP:0040282	ORPHA:3103
157570	ESCO2	HP:0012368	Flat face	7/7	OMIM:615777
157570	ESCO2	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:3103
157570	ESCO2	HP:0000377	Abnormal pinna morphology	-	OMIM:268300
157570	ESCO2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
157570	ESCO2	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:3103
157570	ESCO2	HP:0000365	Hearing impairment	10/67	OMIM:131300
157570	ESCO2	HP:0000358	Posteriorly rotated ears	-	OMIM:268300
157570	ESCO2	HP:0000369	Low-set ears	-	OMIM:268300
157570	ESCO2	HP:0000343	Long philtrum	1/7	OMIM:615777
157570	ESCO2	HP:0011001	Increased bone mineral density	-	OMIM:131300
157570	ESCO2	HP:0000347	Micrognathia	HP:0040282	ORPHA:3103
157570	ESCO2	HP:0000347	Micrognathia	3/7	OMIM:268300
157570	ESCO2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0000316	Hypertelorism	-	OMIM:216100
157570	ESCO2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:3103
157570	ESCO2	HP:0000316	Hypertelorism	4/6	OMIM:268300
157570	ESCO2	HP:0001643	Patent ductus arteriosus	-	OMIM:268300
157570	ESCO2	HP:0000311	Round face	2/7	OMIM:615777
157570	ESCO2	HP:0002974	Radioulnar synostosis	HP:0040282	ORPHA:3103
157570	ESCO2	HP:0002974	Radioulnar synostosis	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0002987	Elbow flexion contracture	-	OMIM:268300
157570	ESCO2	HP:0002984	Hypoplasia of the radius	HP:0040281	ORPHA:3103
157570	ESCO2	HP:0002984	Hypoplasia of the radius	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0001629	Ventricular septal defect	-	OMIM:268300
157570	ESCO2	HP:0001622	Premature birth	HP:0040282	ORPHA:3103
157570	ESCO2	HP:0002970	Genu varum	-	OMIM:615777
157570	ESCO2	HP:0001631	Atrial septal defect	-	OMIM:268300
157570	ESCO2	HP:0000303	Mandibular prognathia	-	OMIM:131300
157570	ESCO2	HP:0007957	Corneal opacity	1/4	OMIM:268300
157570	ESCO2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
157570	ESCO2	HP:0000476	Cystic hygroma	-	OMIM:268300
157570	ESCO2	HP:0000494	Downslanted palpebral fissures	-	OMIM:268300
157570	ESCO2	HP:0000470	Short neck	HP:0040283	ORPHA:3103
157570	ESCO2	HP:0000470	Short neck	-	OMIM:268300
157570	ESCO2	HP:0000470	Short neck	1/7	OMIM:615777
157570	ESCO2	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0001772	Talipes equinovalgus	-	OMIM:268300
157570	ESCO2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
157570	ESCO2	HP:0001763	Pes planus	1/7	OMIM:615777
157570	ESCO2	HP:0001765	Hammertoe	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0001780	Abnormal toe morphology	-	OMIM:216100
157570	ESCO2	HP:0000445	Wide nose	HP:0040281	ORPHA:2319
157570	ESCO2	HP:0001747	Accessory spleen	-	OMIM:268300
157570	ESCO2	HP:0000431	Wide nasal bridge	-	OMIM:268300
157570	ESCO2	HP:0000430	Underdeveloped nasal alae	HP:0040281	ORPHA:3103
157570	ESCO2	HP:0000430	Underdeveloped nasal alae	6/6	OMIM:268300
157570	ESCO2	HP:0000518	Cataract	HP:0040282	ORPHA:3103
157570	ESCO2	HP:0000518	Cataract	-	OMIM:268300
157570	ESCO2	HP:0001840	Metatarsus adductus	-	OMIM:615777
157570	ESCO2	HP:0001852	Sandal gap	HP:0040283	ORPHA:3103
157570	ESCO2	HP:0000520	Proptosis	2/4	OMIM:131300
157570	ESCO2	HP:0000520	Proptosis	HP:0040282	ORPHA:3103
157570	ESCO2	HP:0000520	Proptosis	5/8	OMIM:268300
157570	ESCO2	HP:0000520	Proptosis	7/7	OMIM:615777
157570	ESCO2	HP:0000508	Ptosis	HP:0040283	ORPHA:2319
157570	ESCO2	HP:0000508	Ptosis	-	OMIM:216100
157570	ESCO2	HP:0000501	Glaucoma	HP:0040283	ORPHA:3103
157570	ESCO2	HP:0000592	Blue sclerae	2/7	OMIM:615777
157570	ESCO2	HP:0000592	Blue sclerae	HP:0040283	ORPHA:3103
157570	ESCO2	HP:0000592	Blue sclerae	-	OMIM:268300
157570	ESCO2	HP:0000586	Shallow orbits	-	OMIM:268300
157570	ESCO2	HP:0000589	Coloboma	-	OMIM:268300
157570	ESCO2	HP:0000568	Microphthalmia	HP:0040283	ORPHA:3103
157570	ESCO2	HP:0000568	Microphthalmia	-	OMIM:268300
157570	ESCO2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
157570	ESCO2	HP:0000534	Abnormal eyebrow morphology	HP:0040282	ORPHA:2319
157570	ESCO2	HP:0012514	Lower limb pain	4/4	OMIM:131300
157570	ESCO2	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:3103
157657	CFAP418	HP:0025147	Beaten bronze macular sheen	-	OMIM:614500
157657	CFAP418	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
157657	CFAP418	HP:0001162	Postaxial hand polydactyly	-	OMIM:617406
157657	CFAP418	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
157657	CFAP418	HP:0001133	Constriction of peripheral visual field	-	OMIM:268000
157657	CFAP418	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
157657	CFAP418	HP:0001133	Constriction of peripheral visual field	-	OMIM:617406
157657	CFAP418	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
157657	CFAP418	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
157657	CFAP418	HP:0001105	Retinal atrophy	-	OMIM:617406
157657	CFAP418	HP:0001250	Seizure	HP:0040283	ORPHA:110
157657	CFAP418	HP:0001251	Ataxia	HP:0040283	ORPHA:110
157657	CFAP418	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
157657	CFAP418	HP:0001257	Spasticity	HP:0040283	ORPHA:110
157657	CFAP418	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
157657	CFAP418	HP:0007401	Macular atrophy	-	OMIM:614500
157657	CFAP418	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
157657	CFAP418	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
157657	CFAP418	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000085	Horseshoe kidney	-	OMIM:617406
157657	CFAP418	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
157657	CFAP418	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
157657	CFAP418	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
157657	CFAP418	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
157657	CFAP418	HP:0000007	Autosomal recessive inheritance	-	OMIM:614500
157657	CFAP418	HP:0000007	Autosomal recessive inheritance	-	OMIM:268000
157657	CFAP418	HP:0000007	Autosomal recessive inheritance	-	OMIM:617406
157657	CFAP418	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
157657	CFAP418	HP:0000006	Autosomal dominant inheritance	-	OMIM:268000
157657	CFAP418	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
157657	CFAP418	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
157657	CFAP418	HP:0000164	Abnormality of the dentition	-	OMIM:617406
157657	CFAP418	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
157657	CFAP418	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
157657	CFAP418	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
157657	CFAP418	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
157657	CFAP418	HP:0007663	Reduced visual acuity	-	OMIM:614500
157657	CFAP418	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
157657	CFAP418	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
157657	CFAP418	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
157657	CFAP418	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
157657	CFAP418	HP:0001419	X-linked recessive inheritance	-	OMIM:268000
157657	CFAP418	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
157657	CFAP418	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
157657	CFAP418	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
157657	CFAP418	HP:0002099	Asthma	HP:0040283	ORPHA:110
157657	CFAP418	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
157657	CFAP418	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
157657	CFAP418	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
157657	CFAP418	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
157657	CFAP418	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
157657	CFAP418	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
157657	CFAP418	HP:0003621	Juvenile onset	8/19	OMIM:180100
157657	CFAP418	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
157657	CFAP418	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
157657	CFAP418	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
157657	CFAP418	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
157657	CFAP418	HP:0000618	Blindness	HP:0040281	ORPHA:791
157657	CFAP418	HP:0000618	Blindness	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000618	Blindness	-	OMIM:617406
157657	CFAP418	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
157657	CFAP418	HP:0000613	Photophobia	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000613	Photophobia	-	OMIM:614500
157657	CFAP418	HP:0000613	Photophobia	HP:0040281	ORPHA:791
157657	CFAP418	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
157657	CFAP418	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
157657	CFAP418	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
157657	CFAP418	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
157657	CFAP418	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	-	OMIM:617406
157657	CFAP418	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
157657	CFAP418	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000691	Microdontia	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
157657	CFAP418	HP:0000662	Nyctalopia	-	OMIM:268000
157657	CFAP418	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
157657	CFAP418	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000662	Nyctalopia	-	OMIM:614500
157657	CFAP418	HP:0000662	Nyctalopia	26/28	OMIM:180100
157657	CFAP418	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000668	Hypodontia	-	OMIM:617406
157657	CFAP418	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
157657	CFAP418	HP:0004322	Short stature	HP:0040282	ORPHA:110
157657	CFAP418	HP:0030631	Hyperautofluorescent macular lesion	-	OMIM:617406
157657	CFAP418	HP:0000739	Anxiety	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000736	Short attention span	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000750	Delayed speech and language development	-	OMIM:617406
157657	CFAP418	HP:0000716	Depression	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000717	Autism	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
157657	CFAP418	HP:0011463	Childhood onset	3/19	OMIM:180100
157657	CFAP418	HP:0011462	Young adult onset	8/19	OMIM:180100
157657	CFAP418	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
157657	CFAP418	HP:0000789	Infertility	HP:0040283	ORPHA:110
157657	CFAP418	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
157657	CFAP418	HP:0030786	Photopsia	HP:0040283	ORPHA:791
157657	CFAP418	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
157657	CFAP418	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
157657	CFAP418	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
157657	CFAP418	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000822	Hypertension	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
157657	CFAP418	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
157657	CFAP418	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
157657	CFAP418	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
157657	CFAP418	HP:0100259	Postaxial polydactyly	2/6	OMIM:614500
157657	CFAP418	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
157657	CFAP418	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
157657	CFAP418	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
157657	CFAP418	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
157657	CFAP418	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
157657	CFAP418	HP:0007750	Hypoplasia of the fovea	-	OMIM:617406
157657	CFAP418	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
157657	CFAP418	HP:0007737	Bone spicule pigmentation of the retina	2/6	OMIM:614500
157657	CFAP418	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
157657	CFAP418	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
157657	CFAP418	HP:0000218	High palate	HP:0040282	ORPHA:110
157657	CFAP418	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
157657	CFAP418	HP:0025502	Overweight	-	OMIM:617406
157657	CFAP418	HP:0001513	Obesity	HP:0040281	ORPHA:110
157657	CFAP418	HP:0001513	Obesity	-	OMIM:617406
157657	CFAP418	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
157657	CFAP418	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
157657	CFAP418	HP:0007843	Attenuation of retinal blood vessels	4/6	OMIM:614500
157657	CFAP418	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
157657	CFAP418	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
157657	CFAP418	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
157657	CFAP418	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000388	Otitis media	HP:0040283	ORPHA:110
157657	CFAP418	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
157657	CFAP418	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:617406
157657	CFAP418	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
157657	CFAP418	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
157657	CFAP418	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
157657	CFAP418	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
157657	CFAP418	HP:0031605	Abnormality of fundus pigmentation	-	OMIM:268000
157657	CFAP418	HP:0030329	Retinal thinning	-	OMIM:617406
157657	CFAP418	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
157657	CFAP418	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
157657	CFAP418	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
157657	CFAP418	HP:0000400	Macrotia	HP:0040283	ORPHA:110
157657	CFAP418	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000486	Strabismus	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000470	Short neck	HP:0040283	ORPHA:110
157657	CFAP418	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
157657	CFAP418	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
157657	CFAP418	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
157657	CFAP418	HP:0000518	Cataract	HP:0040283	ORPHA:110
157657	CFAP418	HP:0000518	Cataract	-	OMIM:614500
157657	CFAP418	HP:0000510	Rod-cone dystrophy	-	OMIM:614500
157657	CFAP418	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
157657	CFAP418	HP:0000510	Rod-cone dystrophy	20/20	OMIM:268000
157657	CFAP418	HP:0000510	Rod-cone dystrophy	-	OMIM:617406
157657	CFAP418	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
157657	CFAP418	HP:0000529	Progressive visual loss	-	OMIM:614500
157657	CFAP418	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
157657	CFAP418	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
157657	CFAP418	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
157657	CFAP418	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
157657	CFAP418	HP:0000575	Scotoma	5/18	OMIM:180100
157657	CFAP418	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
157657	CFAP418	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
157657	CFAP418	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
157657	CFAP418	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
157657	CFAP418	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
157657	CFAP418	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
157657	CFAP418	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
157657	CFAP418	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:614500
157657	CFAP418	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:617406
157657	CFAP418	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
157657	CFAP418	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
157657	CFAP418	HP:0000543	Optic disc pallor	3/6	OMIM:614500
157657	CFAP418	HP:0000543	Optic disc pallor	1/1	OMIM:180100
157657	CFAP418	HP:0000545	Myopia	-	OMIM:180100
157657	CFAP418	HP:0000545	Myopia	-	OMIM:617406
157680	VPS13B	HP:0001182	Tapered finger	2/2	OMIM:216550
157680	VPS13B	HP:0001182	Tapered finger	HP:0040281	ORPHA:193
157680	VPS13B	HP:0001166	Arachnodactyly	HP:0040281	ORPHA:193
157680	VPS13B	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
157680	VPS13B	HP:0001135	Chorioretinal dystrophy	HP:0040281	ORPHA:193
157680	VPS13B	HP:0001135	Chorioretinal dystrophy	-	OMIM:216550
157680	VPS13B	HP:0009906	Aplasia/Hypoplasia of the earlobes	HP:0040283	ORPHA:193
157680	VPS13B	HP:0001270	Motor delay	-	OMIM:216550
157680	VPS13B	HP:0001250	Seizure	HP:0040283	ORPHA:193
157680	VPS13B	HP:0001250	Seizure	-	OMIM:216550
157680	VPS13B	HP:0001252	Hypotonia	HP:0040281	ORPHA:193
157680	VPS13B	HP:0001252	Hypotonia	1/1	OMIM:216550
157680	VPS13B	HP:0001249	Intellectual disability	HP:0040281	ORPHA:193
157680	VPS13B	HP:0001249	Intellectual disability	2/2	OMIM:216550
157680	VPS13B	HP:0001263	Global developmental delay	HP:0040281	ORPHA:193
157680	VPS13B	HP:0001263	Global developmental delay	2/2	OMIM:216550
157680	VPS13B	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:193
157680	VPS13B	HP:0100874	Thick hair	HP:0040282	ORPHA:193
157680	VPS13B	HP:0001382	Joint hypermobility	1/1	OMIM:216550
157680	VPS13B	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:193
157680	VPS13B	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:193
157680	VPS13B	HP:0008872	Feeding difficulties in infancy	-	OMIM:216550
157680	VPS13B	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:193
157680	VPS13B	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
157680	VPS13B	HP:0000007	Autosomal recessive inheritance	-	OMIM:216550
157680	VPS13B	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
157680	VPS13B	HP:0002650	Scoliosis	HP:0040283	ORPHA:193
157680	VPS13B	HP:0001321	Cerebellar hypoplasia	-	OMIM:216550
157680	VPS13B	HP:0001319	Neonatal hypotonia	-	OMIM:216550
157680	VPS13B	HP:0008915	Childhood-onset truncal obesity	-	OMIM:216550
157680	VPS13B	HP:0000189	Narrow palate	1/1	OMIM:216550
157680	VPS13B	HP:0000194	Open mouth	-	OMIM:216550
157680	VPS13B	HP:0000194	Open mouth	HP:0040281	ORPHA:193
157680	VPS13B	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:193
157680	VPS13B	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
157680	VPS13B	HP:0007663	Reduced visual acuity	-	OMIM:216550
157680	VPS13B	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
157680	VPS13B	HP:0002705	High, narrow palate	-	OMIM:216550
157680	VPS13B	HP:0002705	High, narrow palate	HP:0040281	ORPHA:193
157680	VPS13B	HP:0002033	Poor suck	1/2	OMIM:216550
157680	VPS13B	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:193
157680	VPS13B	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040281	ORPHA:193
157680	VPS13B	HP:0007074	Thick corpus callosum	1/1	OMIM:216550
157680	VPS13B	HP:0001000	Abnormality of skin pigmentation	HP:0040282	ORPHA:193
157680	VPS13B	HP:0009804	Tooth agenesis	HP:0040281	ORPHA:193
157680	VPS13B	HP:0200046	Cat cry	HP:0040282	ORPHA:193
157680	VPS13B	HP:0010743	Short metatarsal	-	OMIM:216550
157680	VPS13B	HP:0003623	Neonatal onset	2/2	OMIM:216550
157680	VPS13B	HP:0003621	Juvenile onset	8/19	OMIM:180100
157680	VPS13B	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:193
157680	VPS13B	HP:0004283	Narrow palm	HP:0040282	ORPHA:193
157680	VPS13B	HP:0004283	Narrow palm	2/2	OMIM:216550
157680	VPS13B	HP:0000639	Nystagmus	HP:0040283	ORPHA:193
157680	VPS13B	HP:0000648	Optic atrophy	-	OMIM:216550
157680	VPS13B	HP:0000648	Optic atrophy	HP:0040283	ORPHA:193
157680	VPS13B	HP:0000612	Iris coloboma	HP:0040283	ORPHA:193
157680	VPS13B	HP:0001956	Truncal obesity	1/1	OMIM:216550
157680	VPS13B	HP:0010049	Short metacarpal	-	OMIM:216550
157680	VPS13B	HP:0000675	Macrodontia of permanent maxillary central incisor	-	OMIM:216550
157680	VPS13B	HP:0000662	Nyctalopia	18/22	OMIM:216550
157680	VPS13B	HP:0000662	Nyctalopia	26/28	OMIM:180100
157680	VPS13B	HP:0011308	Slender toe	HP:0040281	ORPHA:193
157680	VPS13B	HP:0004322	Short stature	HP:0040282	ORPHA:193
157680	VPS13B	HP:0004322	Short stature	1/1	OMIM:216550
157680	VPS13B	HP:0031936	Delayed ability to walk	1/1	OMIM:216550
157680	VPS13B	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:193
157680	VPS13B	HP:0000750	Delayed speech and language development	1/1	OMIM:216550
157680	VPS13B	HP:0000729	Autistic behavior	1/1	OMIM:216550
157680	VPS13B	HP:0011463	Childhood onset	3/19	OMIM:180100
157680	VPS13B	HP:0011462	Young adult onset	8/19	OMIM:180100
157680	VPS13B	HP:0011504	Bull's eye maculopathy	5/9	OMIM:216550
157680	VPS13B	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:216550
157680	VPS13B	HP:0000823	Delayed puberty	-	OMIM:216550
157680	VPS13B	HP:0000823	Delayed puberty	HP:0040282	ORPHA:193
157680	VPS13B	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040281	ORPHA:193
157680	VPS13B	HP:0003272	Abnormal hip bone morphology	HP:0040283	ORPHA:193
157680	VPS13B	HP:0000954	Single transverse palmar crease	-	OMIM:216550
157680	VPS13B	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:193
157680	VPS13B	HP:0000297	Facial hypotonia	-	OMIM:216550
157680	VPS13B	HP:0000294	Low anterior hairline	HP:0040281	ORPHA:193
157680	VPS13B	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
157680	VPS13B	HP:0007737	Bone spicule pigmentation of the retina	11/13	OMIM:216550
157680	VPS13B	HP:0002808	Kyphosis	HP:0040283	ORPHA:193
157680	VPS13B	HP:0001572	Macrodontia	HP:0040282	ORPHA:193
157680	VPS13B	HP:0000252	Microcephaly	HP:0040281	ORPHA:193
157680	VPS13B	HP:0000252	Microcephaly	2/2	OMIM:216550
157680	VPS13B	HP:0000212	Gingival overgrowth	HP:0040281	ORPHA:193
157680	VPS13B	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:193
157680	VPS13B	HP:0001531	Failure to thrive in infancy	HP:0040282	ORPHA:193
157680	VPS13B	HP:0002857	Genu valgum	-	OMIM:216550
157680	VPS13B	HP:0002857	Genu valgum	HP:0040282	ORPHA:193
157680	VPS13B	HP:0001518	Small for gestational age	-	OMIM:216550
157680	VPS13B	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:193
157680	VPS13B	HP:0001513	Obesity	HP:0040282	ORPHA:193
157680	VPS13B	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
157680	VPS13B	HP:0000384	Preauricular skin tag	HP:0040283	ORPHA:193
157680	VPS13B	HP:0002938	Lumbar hyperlordosis	-	OMIM:216550
157680	VPS13B	HP:0001601	Laryngomalacia	-	OMIM:216550
157680	VPS13B	HP:0002943	Thoracic scoliosis	-	OMIM:216550
157680	VPS13B	HP:0001612	Weak cry	HP:0040282	ORPHA:193
157680	VPS13B	HP:0000347	Micrognathia	HP:0040281	ORPHA:193
157680	VPS13B	HP:0000347	Micrognathia	1/1	OMIM:216550
157680	VPS13B	HP:0000327	Hypoplasia of the maxilla	-	OMIM:216550
157680	VPS13B	HP:0000327	Hypoplasia of the maxilla	HP:0040281	ORPHA:193
157680	VPS13B	HP:0000322	Short philtrum	1/1	OMIM:216550
157680	VPS13B	HP:0000322	Short philtrum	HP:0040281	ORPHA:193
157680	VPS13B	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:193
157680	VPS13B	HP:0002967	Cubitus valgus	HP:0040282	ORPHA:193
157680	VPS13B	HP:0002967	Cubitus valgus	-	OMIM:216550
157680	VPS13B	HP:0001634	Mitral valve prolapse	-	OMIM:216550
157680	VPS13B	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:193
157680	VPS13B	HP:0000499	Abnormal eyelash morphology	HP:0040281	ORPHA:193
157680	VPS13B	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:193
157680	VPS13B	HP:0000486	Strabismus	HP:0040283	ORPHA:193
157680	VPS13B	HP:0012471	Thick vermilion border	1/1	OMIM:216550
157680	VPS13B	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:216550
157680	VPS13B	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:193
157680	VPS13B	HP:0000492	Abnormal eyelid morphology	HP:0040281	ORPHA:193
157680	VPS13B	HP:0001786	Narrow foot	1/1	OMIM:216550
157680	VPS13B	HP:0001763	Pes planus	-	OMIM:216550
157680	VPS13B	HP:0000444	Convex nasal ridge	-	OMIM:216550
157680	VPS13B	HP:0000426	Prominent nasal bridge	-	OMIM:216550
157680	VPS13B	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:193
157680	VPS13B	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
157680	VPS13B	HP:0000527	Long eyelashes	HP:0040281	ORPHA:193
157680	VPS13B	HP:0001852	Sandal gap	HP:0040281	ORPHA:193
157680	VPS13B	HP:0000505	Visual impairment	-	OMIM:216550
157680	VPS13B	HP:0000580	Pigmentary retinopathy	1/1	OMIM:216550
157680	VPS13B	HP:0000575	Scotoma	5/18	OMIM:180100
157680	VPS13B	HP:0011231	Prominent eyelashes	2/2	OMIM:216550
157680	VPS13B	HP:0000574	Thick eyebrow	2/2	OMIM:216550
157680	VPS13B	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:193
157680	VPS13B	HP:0000568	Microphthalmia	HP:0040283	ORPHA:193
157680	VPS13B	HP:0001882	Decreased total leukocyte count	-	OMIM:216550
157680	VPS13B	HP:0000543	Optic disc pallor	1/1	OMIM:180100
157680	VPS13B	HP:0000545	Myopia	11/11	OMIM:216550
157680	VPS13B	HP:0000545	Myopia	-	OMIM:180100
157680	VPS13B	HP:0000545	Myopia	HP:0040281	ORPHA:193
157680	VPS13B	HP:0001875	Decreased total neutrophil count	2/2	OMIM:216550
157680	VPS13B	HP:0001875	Decreased total neutrophil count	HP:0040281	ORPHA:193
157855	KCNU1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620196
157855	KCNU1	HP:0032560	Coiled sperm flagella	1/1	OMIM:620196
157855	KCNU1	HP:0011462	Young adult onset	1/1	OMIM:620196
157855	KCNU1	HP:0000798	Oligozoospermia	1/1	OMIM:620196
157855	KCNU1	HP:0003251	Male infertility	1/1	OMIM:620196
157855	KCNU1	HP:0012207	Reduced sperm motility	1/1	OMIM:620196
157922	CAMSAP1	HP:0025102	Dysgenesis of the basal ganglia	7/7	OMIM:620316
157922	CAMSAP1	HP:0010851	EEG with burst suppression	1/7	OMIM:620316
157922	CAMSAP1	HP:0001274	Agenesis of corpus callosum	7/7	OMIM:620316
157922	CAMSAP1	HP:0001250	Seizure	6/7	OMIM:620316
157922	CAMSAP1	HP:0001252	Hypotonia	7/7	OMIM:620316
157922	CAMSAP1	HP:0001263	Global developmental delay	7/7	OMIM:620316
157922	CAMSAP1	HP:0002521	Hypsarrhythmia	2/7	OMIM:620316
157922	CAMSAP1	HP:0002509	Limb hypertonia	5/6	OMIM:620316
157922	CAMSAP1	HP:0003819	Death in childhood	1/7	OMIM:620316
157922	CAMSAP1	HP:0001347	Hyperreflexia	6/6	OMIM:620316
157922	CAMSAP1	HP:0000028	Cryptorchidism	2/5	OMIM:620316
157922	CAMSAP1	HP:0001339	Lissencephaly	7/7	OMIM:620316
157922	CAMSAP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620316
157922	CAMSAP1	HP:0001302	Pachygyria	7/7	OMIM:620316
157922	CAMSAP1	HP:0002650	Scoliosis	1/7	OMIM:620316
157922	CAMSAP1	HP:0001321	Cerebellar hypoplasia	7/7	OMIM:620316
157922	CAMSAP1	HP:0100541	Femoral hernia	1/7	OMIM:620316
157922	CAMSAP1	HP:0003487	Babinski sign	2/3	OMIM:620316
157922	CAMSAP1	HP:0002263	Exaggerated cupid's bow	6/7	OMIM:620316
157922	CAMSAP1	HP:0003593	Infantile onset	7/7	OMIM:620316
157922	CAMSAP1	HP:0100704	Cerebral visual impairment	6/6	OMIM:620316
157922	CAMSAP1	HP:0011968	Feeding difficulties	7/7	OMIM:620316
157922	CAMSAP1	HP:0030084	Clinodactyly	2/7	OMIM:620316
157922	CAMSAP1	HP:0000218	High palate	4/5	OMIM:620316
157922	CAMSAP1	HP:0000483	Astigmatism	1/7	OMIM:620316
157922	CAMSAP1	HP:0000431	Wide nasal bridge	7/7	OMIM:620316
157922	CAMSAP1	HP:0005487	Prominent metopic ridge	5/7	OMIM:620316
157922	CAMSAP1	HP:0005445	Enlarged posterior fossa	2/7	OMIM:620316
157922	CAMSAP1	HP:0000540	Hypermetropia	1/7	OMIM:620316
158326	FREM1	HP:0001126	Cryptophthalmos	HP:0040283	ORPHA:2717
158326	FREM1	HP:0001126	Cryptophthalmos	1/10	OMIM:248450
158326	FREM1	HP:0001256	Intellectual disability, mild	1/2	OMIM:608980
158326	FREM1	HP:0001263	Global developmental delay	1/10	OMIM:248450
158326	FREM1	HP:0001263	Global developmental delay	1/3	OMIM:614485
158326	FREM1	HP:0002553	Highly arched eyebrow	HP:0040282	ORPHA:3366
158326	FREM1	HP:0002516	Increased intracranial pressure	HP:0040284	ORPHA:3366
158326	FREM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:608980
158326	FREM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:248450
158326	FREM1	HP:0000006	Autosomal dominant inheritance	-	OMIM:614485
158326	FREM1	HP:0000143	Rectovaginal fistula	-	OMIM:608980
158326	FREM1	HP:0000148	Vaginal atresia	1/7	OMIM:248450
158326	FREM1	HP:0000122	Unilateral renal agenesis	1/2	OMIM:608980
158326	FREM1	HP:0000104	Renal agenesis	HP:0040282	ORPHA:217266
158326	FREM1	HP:0000104	Renal agenesis	6/9	OMIM:608980
158326	FREM1	HP:0002025	Anal stenosis	HP:0040282	ORPHA:2717
158326	FREM1	HP:0002025	Anal stenosis	HP:0040281	ORPHA:217266
158326	FREM1	HP:0002025	Anal stenosis	2/10	OMIM:248450
158326	FREM1	HP:0011803	Bifid nose	HP:0040280	ORPHA:217266
158326	FREM1	HP:0011803	Bifid nose	11/11	OMIM:608980
158326	FREM1	HP:6000101	Corneopalpebral synechiae	-	OMIM:248450
158326	FREM1	HP:0009553	Abnormality of the hairline	7/9	OMIM:248450
158326	FREM1	HP:0003577	Congenital onset	10/10	OMIM:248450
158326	FREM1	HP:0010720	Abnormal hair pattern	HP:0040281	ORPHA:2717
158326	FREM1	HP:0001085	Papilledema	HP:0040284	ORPHA:3366
158326	FREM1	HP:0000636	Upper eyelid coloboma	HP:0040281	ORPHA:2717
158326	FREM1	HP:0000625	Eyelid coloboma	4/10	OMIM:248450
158326	FREM1	HP:0000601	Hypotelorism	HP:0040282	ORPHA:3366
158326	FREM1	HP:0011330	Metopic synostosis	-	OMIM:614485
158326	FREM1	HP:0011330	Metopic synostosis	HP:0040281	ORPHA:3366
158326	FREM1	HP:0000664	Synophrys	HP:0040282	ORPHA:3366
158326	FREM1	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:3366
158326	FREM1	HP:0000826	Precocious puberty	1/2	OMIM:608980
158326	FREM1	HP:0010322	Abnormal fifth toe morphology	HP:0040281	ORPHA:217266
158326	FREM1	HP:0010316	Ebstein anomaly of the tricuspid valve	1/2	OMIM:608980
158326	FREM1	HP:0012252	Abnormal respiratory system morphology	HP:0040283	ORPHA:217266
158326	FREM1	HP:0000243	Trigonocephaly	3/3	OMIM:614485
158326	FREM1	HP:0000243	Trigonocephaly	HP:0040281	ORPHA:3366
158326	FREM1	HP:0001566	Widely-spaced maxillary central incisors	1/2	OMIM:608980
158326	FREM1	HP:0000252	Microcephaly	1/2	OMIM:614485
158326	FREM1	HP:0000248	Brachycephaly	1/2	OMIM:608980
158326	FREM1	HP:0001545	Anteriorly placed anus	HP:0040281	ORPHA:217266
158326	FREM1	HP:0001545	Anteriorly placed anus	2/10	OMIM:248450
158326	FREM1	HP:0001545	Anteriorly placed anus	HP:0040282	ORPHA:2717
158326	FREM1	HP:0001545	Anteriorly placed anus	-	OMIM:608980
158326	FREM1	HP:0000200	Short lingual frenulum	HP:0040281	ORPHA:217266
158326	FREM1	HP:0000200	Short lingual frenulum	11/12	OMIM:608980
158326	FREM1	HP:0001539	Omphalocele	HP:0040283	ORPHA:3366
158326	FREM1	HP:0001539	Omphalocele	3/10	OMIM:248450
158326	FREM1	HP:0000396	Overfolded helix	1/2	OMIM:608980
158326	FREM1	HP:0000358	Posteriorly rotated ears	1/2	OMIM:608980
158326	FREM1	HP:0000369	Low-set ears	1/2	OMIM:608980
158326	FREM1	HP:0000341	Narrow forehead	HP:0040282	ORPHA:3366
158326	FREM1	HP:0000336	Prominent supraorbital ridges	HP:0040282	ORPHA:3366
158326	FREM1	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2717
158326	FREM1	HP:0000316	Hypertelorism	4/10	OMIM:248450
158326	FREM1	HP:0000316	Hypertelorism	HP:0040283	OMIM:614485
158326	FREM1	HP:0000322	Short philtrum	-	OMIM:608980
158326	FREM1	HP:0005280	Depressed nasal bridge	1/2	OMIM:614485
158326	FREM1	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:614485
158326	FREM1	HP:0000455	Broad nasal tip	3/10	OMIM:248450
158326	FREM1	HP:0000456	Bifid nasal tip	HP:0040283	ORPHA:2717
158326	FREM1	HP:0000456	Bifid nasal tip	9/10	OMIM:248450
158326	FREM1	HP:0000414	Bulbous nose	-	OMIM:608980
158326	FREM1	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:3366
158326	FREM1	HP:0000431	Wide nasal bridge	1/2	OMIM:614485
158326	FREM1	HP:0000528	Anophthalmia	1/10	OMIM:248450
158326	FREM1	HP:0000528	Anophthalmia	HP:0040283	ORPHA:2717
158326	FREM1	HP:0000579	Nasolacrimal duct obstruction	HP:0040282	ORPHA:2717
158326	FREM1	HP:0000579	Nasolacrimal duct obstruction	-	OMIM:248450
158326	FREM1	HP:0000574	Thick eyebrow	1/2	OMIM:608980
158326	FREM1	HP:0000568	Microphthalmia	HP:0040283	ORPHA:2717
158326	FREM1	HP:0000568	Microphthalmia	-	OMIM:248450
158401	SHOC1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
158401	SHOC1	HP:0031039	Spermatocyte maturation arrest	2/2	OMIM:619949
158401	SHOC1	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
158401	SHOC1	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
158401	SHOC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619949
158401	SHOC1	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
158401	SHOC1	HP:0008232	Elevated circulating follicle stimulating hormone level	2/2	OMIM:619949
158401	SHOC1	HP:0011961	Non-obstructive azoospermia	2/2	OMIM:619949
158401	SHOC1	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
158401	SHOC1	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
158401	SHOC1	HP:0011462	Young adult onset	2/2	OMIM:619949
158401	SHOC1	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
158401	SHOC1	HP:0003251	Male infertility	2/2	OMIM:619949
159686	CFAP58	HP:0000007	Autosomal recessive inheritance	-	OMIM:619144
159686	CFAP58	HP:0032558	Absent sperm flagella	5/5	OMIM:619144
159686	CFAP58	HP:0032559	Short sperm flagella	5/5	OMIM:619144
159686	CFAP58	HP:0032560	Coiled sperm flagella	5/5	OMIM:619144
159686	CFAP58	HP:0003581	Adult onset	-	OMIM:619144
159686	CFAP58	HP:0003251	Male infertility	5/5	OMIM:619144
159686	CFAP58	HP:0012207	Reduced sperm motility	5/5	OMIM:619144
160418	TMTC3	HP:0007260	Type II lissencephaly	7/9	OMIM:617255
160418	TMTC3	HP:0010862	Delayed fine motor development	9/9	OMIM:617255
160418	TMTC3	HP:0001250	Seizure	6/9	OMIM:617255
160418	TMTC3	HP:0001249	Intellectual disability	9/9	OMIM:617255
160418	TMTC3	HP:0001263	Global developmental delay	9/9	OMIM:617255
160418	TMTC3	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:98892
160418	TMTC3	HP:0003834	Shoulder dislocation	HP:0040283	ORPHA:98892
160418	TMTC3	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:98892
160418	TMTC3	HP:0001344	Absent speech	2/9	OMIM:617255
160418	TMTC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:617255
160418	TMTC3	HP:0002650	Scoliosis	HP:0040281	ORPHA:98892
160418	TMTC3	HP:0001321	Cerebellar hypoplasia	3/9	OMIM:617255
160418	TMTC3	HP:0008936	Axial hypotonia	9/9	OMIM:617255
160418	TMTC3	HP:0002021	Pyloric stenosis	HP:0040281	ORPHA:98892
160418	TMTC3	HP:0002020	Gastroesophageal reflux	HP:0040281	ORPHA:98892
160418	TMTC3	HP:0002085	Occipital encephalocele	2/9	OMIM:617255
160418	TMTC3	HP:0002079	Hypoplasia of the corpus callosum	5/9	OMIM:617255
160418	TMTC3	HP:0002119	Ventriculomegaly	7/9	OMIM:617255
160418	TMTC3	HP:0002126	Polymicrogyria	1/9	OMIM:617255
160418	TMTC3	HP:0002194	Delayed gross motor development	9/9	OMIM:617255
160418	TMTC3	HP:0003593	Infantile onset	-	OMIM:617255
160418	TMTC3	HP:0100790	Hernia	HP:0040281	ORPHA:98892
160418	TMTC3	HP:0002365	Hypoplasia of the brainstem	6/9	OMIM:617255
160418	TMTC3	HP:0007165	Periventricular heterotopia	HP:0040282	ORPHA:98892
160418	TMTC3	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:98892
160418	TMTC3	HP:0006808	Cerebral hypomyelination	1/9	OMIM:617255
160418	TMTC3	HP:0031882	Agyria	4/9	OMIM:617255
160418	TMTC3	HP:0000648	Optic atrophy	1/8	OMIM:617255
160418	TMTC3	HP:0012639	Abnormal nervous system morphology	HP:0040282	ORPHA:98892
160418	TMTC3	HP:0006951	Retrocerebellar cyst	1/9	OMIM:617255
160418	TMTC3	HP:0031936	Delayed ability to walk	-	OMIM:617255
160418	TMTC3	HP:0000750	Delayed speech and language development	9/9	OMIM:617255
160418	TMTC3	HP:0000729	Autistic behavior	2/5	OMIM:617255
160418	TMTC3	HP:0003236	Elevated circulating creatine kinase concentration	2/7	OMIM:617255
160418	TMTC3	HP:0003202	Skeletal muscle atrophy	0/9	OMIM:617255
160418	TMTC3	HP:0034353	Appendicular spasticity	9/9	OMIM:617255
160418	TMTC3	HP:0000963	Thin skin	HP:0040282	ORPHA:98892
160418	TMTC3	HP:0000252	Microcephaly	2/7	OMIM:617255
160418	TMTC3	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:98892
160418	TMTC3	HP:0001643	Patent ductus arteriosus	HP:0040282	ORPHA:98892
160418	TMTC3	HP:0001659	Aortic regurgitation	HP:0040282	ORPHA:98892
160418	TMTC3	HP:0001654	Abnormal heart valve morphology	HP:0040282	ORPHA:98892
160418	TMTC3	HP:0012434	Delayed early-childhood social milestone development	9/9	OMIM:617255
160418	TMTC3	HP:0001762	Talipes equinovarus	2/6	OMIM:617255
160418	TMTC3	HP:0000518	Cataract	2/8	OMIM:617255
160418	TMTC3	HP:0001892	Abnormal bleeding	HP:0040281	ORPHA:98892
160418	TMTC3	HP:0000568	Microphthalmia	1/8	OMIM:617255
161497	STRC	HP:0008619	Bilateral sensorineural hearing impairment	10/10	OMIM:611102
161497	STRC	HP:0008669	Abnormal spermatogenesis	3/3	OMIM:611102
161497	STRC	HP:0000027	Azoospermia	HP:0040281	ORPHA:94064
161497	STRC	HP:0000007	Autosomal recessive inheritance	-	OMIM:612997
161497	STRC	HP:0000007	Autosomal recessive inheritance	-	OMIM:603720
161497	STRC	HP:0000007	Autosomal recessive inheritance	-	OMIM:611102
161497	STRC	HP:0003577	Congenital onset	10/10	OMIM:611102
161497	STRC	HP:0011462	Young adult onset	2/2	OMIM:612997
161497	STRC	HP:0000798	Oligozoospermia	2/2	OMIM:612997
161497	STRC	HP:0012868	Abnormal sperm tail morphology	3/3	OMIM:611102
161497	STRC	HP:0012865	Abnormal sperm head morphology	3/3	OMIM:611102
161497	STRC	HP:0003251	Male infertility	HP:0040281	ORPHA:94064
161497	STRC	HP:0003251	Male infertility	3/3	OMIM:611102
161497	STRC	HP:0003251	Male infertility	2/2	OMIM:612997
161497	STRC	HP:0012207	Reduced sperm motility	3/3	OMIM:611102
161497	STRC	HP:0012207	Reduced sperm motility	2/2	OMIM:612997
161497	STRC	HP:0012208	Immotile sperm	1/2	OMIM:612997
161497	STRC	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:94064
161497	STRC	HP:0000407	Sensorineural hearing impairment	HP:0040280	OMIM:603720
161497	STRC	HP:0001751	Abnormal vestibular function	0/10	OMIM:611102
161582	DNAAF4	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
161582	DNAAF4	HP:0001217	Clubbing	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615482
161582	DNAAF4	HP:0000006	Autosomal dominant inheritance	-	OMIM:127700
161582	DNAAF4	HP:0002643	Neonatal respiratory distress	7/12	OMIM:615482
161582	DNAAF4	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
161582	DNAAF4	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0031245	Productive cough	HP:0040282	ORPHA:244
161582	DNAAF4	HP:0031245	Productive cough	2/12	OMIM:615482
161582	DNAAF4	HP:0002020	Gastroesophageal reflux	1/12	OMIM:615482
161582	DNAAF4	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
161582	DNAAF4	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
161582	DNAAF4	HP:0002110	Bronchiectasis	5/12	OMIM:615482
161582	DNAAF4	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0002167	Abnormal speech pattern	-	OMIM:127700
161582	DNAAF4	HP:0008222	Female infertility	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0010522	Dyslexia	-	OMIM:127700
161582	DNAAF4	HP:0003593	Infantile onset	-	OMIM:615482
161582	DNAAF4	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
161582	DNAAF4	HP:0002257	Chronic rhinitis	2/12	OMIM:615482
161582	DNAAF4	HP:0002205	Recurrent respiratory infections	-	OMIM:615482
161582	DNAAF4	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
161582	DNAAF4	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
161582	DNAAF4	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
161582	DNAAF4	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0000789	Infertility	5/5	OMIM:615482
161582	DNAAF4	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0004469	Chronic bronchitis	1/12	OMIM:615482
161582	DNAAF4	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
161582	DNAAF4	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
161582	DNAAF4	HP:0030828	Wheezing	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0003251	Male infertility	HP:0040282	ORPHA:244
161582	DNAAF4	HP:0034315	Chronic cough	1/12	OMIM:615482
161582	DNAAF4	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
161582	DNAAF4	HP:0012265	Ciliary dyskinesia	-	OMIM:615482
161582	DNAAF4	HP:0012263	Immotile cilia	6/7	OMIM:615482
161582	DNAAF4	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
161582	DNAAF4	HP:0000252	Microcephaly	1/12	OMIM:615482
161582	DNAAF4	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
161582	DNAAF4	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
161582	DNAAF4	HP:0006510	Chronic pulmonary obstruction	3/12	OMIM:615482
161582	DNAAF4	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
161582	DNAAF4	HP:0006532	Recurrent pneumonia	1/12	OMIM:615482
161582	DNAAF4	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0001696	Situs inversus totalis	3/12	OMIM:615482
161582	DNAAF4	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
161582	DNAAF4	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0001651	Dextrocardia	1/12	OMIM:615482
161582	DNAAF4	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
161582	DNAAF4	HP:0000403	Recurrent otitis media	9/12	OMIM:615482
161582	DNAAF4	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
161582	DNAAF4	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
161582	DNAAF4	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
161582	DNAAF4	HP:0011108	Recurrent sinusitis	7/12	OMIM:615482
161582	DNAAF4	HP:0001746	Asplenia	HP:0040284	ORPHA:244
161582	DNAAF4	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
161582	DNAAF4	HP:0001748	Polysplenia	1/12	OMIM:615482
161582	DNAAF4	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
161582	DNAAF4	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
161582	DNAAF4	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
161582	DNAAF4	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
161725	OTUD7A	HP:0007270	Atypical absence seizure	1/2	OMIM:620790
161725	OTUD7A	HP:0001252	Hypotonia	2/2	OMIM:620790
161725	OTUD7A	HP:0001263	Global developmental delay	2/2	OMIM:620790
161725	OTUD7A	HP:0002540	Inability to walk	1/1	OMIM:620790
161725	OTUD7A	HP:0002521	Hypsarrhythmia	1/2	OMIM:620790
161725	OTUD7A	HP:0025336	Delayed ability to sit	2/2	OMIM:620790
161725	OTUD7A	HP:0033725	Thin corpus callosum	1/2	OMIM:620790
161725	OTUD7A	HP:0000007	Autosomal recessive inheritance	-	OMIM:620790
161725	OTUD7A	HP:0002650	Scoliosis	1/2	OMIM:620790
161725	OTUD7A	HP:0003593	Infantile onset	1/1	OMIM:620790
161725	OTUD7A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/2	OMIM:620790
161725	OTUD7A	HP:0010804	Tented upper lip vermilion	1/2	OMIM:620790
161725	OTUD7A	HP:0003623	Neonatal onset	1/1	OMIM:620790
161725	OTUD7A	HP:0031936	Delayed ability to walk	2/2	OMIM:620790
161725	OTUD7A	HP:0000750	Delayed speech and language development	2/2	OMIM:620790
161725	OTUD7A	HP:0012704	Widened subarachnoid space	1/2	OMIM:620790
161725	OTUD7A	HP:0032724	Focal impaired awareness tonic seizure	1/2	OMIM:620790
161725	OTUD7A	HP:0000400	Macrotia	1/2	OMIM:620790
161725	OTUD7A	HP:0012469	Infantile spasms	1/2	OMIM:620790
161725	OTUD7A	HP:0000494	Downslanted palpebral fissures	1/2	OMIM:620790
161742	SPRED1	HP:0001114	Xanthelasma	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
161742	SPRED1	HP:0001293	Cranial nerve compression	-	OMIM:131300
161742	SPRED1	HP:0001270	Motor delay	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0001250	Seizure	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0001252	Hypotonia	-	OMIM:611431
161742	SPRED1	HP:0001252	Hypotonia	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0001252	Hypotonia	2/7	OMIM:615777
161742	SPRED1	HP:0001249	Intellectual disability	5/7	OMIM:615777
161742	SPRED1	HP:0001263	Global developmental delay	-	OMIM:615777
161742	SPRED1	HP:0410263	Brain imaging abnormality	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0002515	Waddling gait	54/102	OMIM:131300
161742	SPRED1	HP:0001382	Joint hypermobility	-	OMIM:615777
161742	SPRED1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
161742	SPRED1	HP:0007565	Multiple cafe-au-lait spots	HP:0040281	ORPHA:137605
161742	SPRED1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
161742	SPRED1	HP:0001332	Dystonia	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0001328	Specific learning disability	-	OMIM:611431
161742	SPRED1	HP:0001328	Specific learning disability	HP:0040282	ORPHA:137605
161742	SPRED1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
161742	SPRED1	HP:0001324	Muscle weakness	40/96	OMIM:131300
161742	SPRED1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
161742	SPRED1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
161742	SPRED1	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0000006	Autosomal dominant inheritance	-	OMIM:611431
161742	SPRED1	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
161742	SPRED1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
161742	SPRED1	HP:0002650	Scoliosis	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0002650	Scoliosis	12/14	OMIM:131300
161742	SPRED1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
161742	SPRED1	HP:0002619	Varicose veins	-	OMIM:153400
161742	SPRED1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
161742	SPRED1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
161742	SPRED1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
161742	SPRED1	HP:0000175	Cleft palate	5/39	OMIM:153400
161742	SPRED1	HP:0000175	Cleft palate	2/7	OMIM:615777
161742	SPRED1	HP:0001480	Freckling	14/43	OMIM:611431
161742	SPRED1	HP:0002705	High, narrow palate	-	OMIM:611431
161742	SPRED1	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0003388	Easy fatigability	36/76	OMIM:131300
161742	SPRED1	HP:0010442	Polydactyly	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
161742	SPRED1	HP:0002162	Low posterior hairline	-	OMIM:611431
161742	SPRED1	HP:0009588	Vestibular schwannoma	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
161742	SPRED1	HP:0009743	Distichiasis	42/42	OMIM:153400
161742	SPRED1	HP:0009734	Optic nerve glioma	-	ORPHA:137605
161742	SPRED1	HP:0009737	Lisch nodules	-	ORPHA:137605
161742	SPRED1	HP:0007018	Attention deficit hyperactivity disorder	2/40	OMIM:611431
161742	SPRED1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0032077	Male urethral meatus stenosis	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0003510	Severe short stature	7/7	OMIM:615777
161742	SPRED1	HP:0004845	Acute monocytic leukemia	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0007099	Chiari type I malformation	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0001067	Neurofibroma	0/18	OMIM:611431
161742	SPRED1	HP:0001067	Neurofibroma	-	ORPHA:137605
161742	SPRED1	HP:0001012	Multiple lipomas	11/40	OMIM:611431
161742	SPRED1	HP:0001012	Multiple lipomas	HP:0040283	ORPHA:137605
161742	SPRED1	HP:0001004	Lymphedema	-	OMIM:153400
161742	SPRED1	HP:0002315	Headache	-	OMIM:131300
161742	SPRED1	HP:0004976	Knee dislocation	6/7	OMIM:615777
161742	SPRED1	HP:0100658	Cellulitis	2/6	OMIM:153400
161742	SPRED1	HP:0100615	Ovarian neoplasm	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0009803	Short phalanx of finger	-	OMIM:615777
161742	SPRED1	HP:0009763	Limb pain	63/92	OMIM:131300
161742	SPRED1	HP:0003621	Juvenile onset	-	OMIM:131300
161742	SPRED1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
161742	SPRED1	HP:0004209	Clinodactyly of the 5th finger	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
161742	SPRED1	HP:6001056	Out-toeing	-	OMIM:131300
161742	SPRED1	HP:0000651	Diplopia	-	OMIM:131300
161742	SPRED1	HP:0000613	Photophobia	10/49	OMIM:153400
161742	SPRED1	HP:0001956	Truncal obesity	2/7	OMIM:615777
161742	SPRED1	HP:0001903	Anemia	HP:0040283	OMIM:131300
161742	SPRED1	HP:0010049	Short metacarpal	-	OMIM:615777
161742	SPRED1	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
161742	SPRED1	HP:0000678	Dental crowding	-	OMIM:615777
161742	SPRED1	HP:0000656	Ectropion	2/43	OMIM:153400
161742	SPRED1	HP:0000670	Carious teeth	-	OMIM:131300
161742	SPRED1	HP:0011304	Broad thumb	2/7	OMIM:615777
161742	SPRED1	HP:0000668	Hypodontia	-	OMIM:615777
161742	SPRED1	HP:0000664	Synophrys	-	OMIM:615777
161742	SPRED1	HP:0004322	Short stature	HP:0040283	ORPHA:137605
161742	SPRED1	HP:0004396	Poor appetite	-	OMIM:131300
161742	SPRED1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
161742	SPRED1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
161742	SPRED1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
161742	SPRED1	HP:0003011	Abnormality of the musculature	-	OMIM:153400
161742	SPRED1	HP:0003026	Short long bone	7/7	OMIM:615777
161742	SPRED1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
161742	SPRED1	HP:0100006	Neoplasm of the central nervous system	-	ORPHA:137605
161742	SPRED1	HP:0000752	Hyperactivity	HP:0040283	ORPHA:137605
161742	SPRED1	HP:0000767	Pectus excavatum	3/40	OMIM:611431
161742	SPRED1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
161742	SPRED1	HP:0000766	Abnormal sternum morphology	HP:0040283	ORPHA:137605
161742	SPRED1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
161742	SPRED1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
161742	SPRED1	HP:0000736	Short attention span	HP:0040283	ORPHA:137605
161742	SPRED1	HP:0000750	Delayed speech and language development	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0000750	Delayed speech and language development	-	OMIM:615777
161742	SPRED1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:137605
161742	SPRED1	HP:0011461	Fetal onset	7/7	OMIM:615777
161742	SPRED1	HP:0000774	Narrow chest	2/7	OMIM:615777
161742	SPRED1	HP:0000787	Nephrolithiasis	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0000926	Platyspondyly	1/7	OMIM:615777
161742	SPRED1	HP:0003180	Flat acetabular roof	-	OMIM:615777
161742	SPRED1	HP:0004482	Relative macrocephaly	-	OMIM:615777
161742	SPRED1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
161742	SPRED1	HP:0012804	Corneal ulceration	-	OMIM:153400
161742	SPRED1	HP:0000823	Delayed puberty	-	OMIM:131300
161742	SPRED1	HP:0000894	Short clavicles	-	OMIM:615777
161742	SPRED1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
161742	SPRED1	HP:0100252	Diaphyseal dysplasia	-	ORPHA:137605
161742	SPRED1	HP:0000997	Axillary freckling	10/18	OMIM:611431
161742	SPRED1	HP:0000997	Axillary freckling	HP:0040282	ORPHA:137605
161742	SPRED1	HP:0010310	Chylothorax	1/6	OMIM:153400
161742	SPRED1	HP:0000957	Cafe-au-lait spot	62/62	OMIM:611431
161742	SPRED1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
161742	SPRED1	HP:0034349	Supravalvar pulmonary stenosis	1/40	OMIM:611431
161742	SPRED1	HP:0100245	Gastrointestinal desmoid tumor	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0011675	Arrhythmia	-	OMIM:153400
161742	SPRED1	HP:0000286	Epicanthus	-	OMIM:611431
161742	SPRED1	HP:0000286	Epicanthus	1/7	OMIM:615777
161742	SPRED1	HP:0000280	Coarse facial features	2/7	OMIM:615777
161742	SPRED1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:137605
161742	SPRED1	HP:0000256	Macrocephaly	7/49	OMIM:611431
161742	SPRED1	HP:0002827	Hip dislocation	3/7	OMIM:615777
161742	SPRED1	HP:0002808	Kyphosis	2/5	OMIM:153400
161742	SPRED1	HP:0000252	Microcephaly	-	OMIM:615777
161742	SPRED1	HP:0000218	High palate	-	OMIM:611431
161742	SPRED1	HP:0002857	Genu valgum	-	OMIM:131300
161742	SPRED1	HP:0001533	Slender build	-	OMIM:131300
161742	SPRED1	HP:0000204	Cleft upper lip	-	OMIM:153400
161742	SPRED1	HP:0030052	Inguinal freckling	9/18	OMIM:611431
161742	SPRED1	HP:0030052	Inguinal freckling	HP:0040282	ORPHA:137605
161742	SPRED1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
161742	SPRED1	HP:0007807	Optic nerve compression	-	OMIM:131300
161742	SPRED1	HP:0012368	Flat face	7/7	OMIM:615777
161742	SPRED1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
161742	SPRED1	HP:0000365	Hearing impairment	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0000365	Hearing impairment	10/67	OMIM:131300
161742	SPRED1	HP:0000358	Posteriorly rotated ears	-	OMIM:611431
161742	SPRED1	HP:0000369	Low-set ears	-	OMIM:611431
161742	SPRED1	HP:0000343	Long philtrum	1/7	OMIM:615777
161742	SPRED1	HP:0011001	Increased bone mineral density	-	OMIM:131300
161742	SPRED1	HP:0000347	Micrognathia	-	OMIM:611431
161742	SPRED1	HP:0000347	Micrognathia	2/5	OMIM:153400
161742	SPRED1	HP:0000316	Hypertelorism	-	OMIM:611431
161742	SPRED1	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
161742	SPRED1	HP:0000311	Round face	2/7	OMIM:615777
161742	SPRED1	HP:0001642	Pulmonic stenosis	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0000325	Triangular face	-	OMIM:611431
161742	SPRED1	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
161742	SPRED1	HP:0002970	Genu varum	-	OMIM:615777
161742	SPRED1	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
161742	SPRED1	HP:0000303	Mandibular prognathia	-	OMIM:131300
161742	SPRED1	HP:0001634	Mitral valve prolapse	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0006671	Paroxysmal atrial tachycardia	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
161742	SPRED1	HP:0000476	Cystic hygroma	2/43	OMIM:153400
161742	SPRED1	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
161742	SPRED1	HP:0000494	Downslanted palpebral fissures	-	OMIM:611431
161742	SPRED1	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
161742	SPRED1	HP:0000470	Short neck	-	OMIM:611431
161742	SPRED1	HP:0000470	Short neck	1/7	OMIM:615777
161742	SPRED1	HP:0000465	Webbed neck	6/43	OMIM:153400
161742	SPRED1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
161742	SPRED1	HP:0001763	Pes planus	1/7	OMIM:615777
161742	SPRED1	HP:0000518	Cataract	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0001840	Metatarsus adductus	-	OMIM:615777
161742	SPRED1	HP:0000520	Proptosis	2/4	OMIM:131300
161742	SPRED1	HP:0000520	Proptosis	7/7	OMIM:615777
161742	SPRED1	HP:0000509	Conjunctivitis	-	OMIM:153400
161742	SPRED1	HP:0000508	Ptosis	-	OMIM:611431
161742	SPRED1	HP:0000508	Ptosis	2/39	OMIM:153400
161742	SPRED1	HP:0030358	Non-small cell lung carcinoma	HP:0040284	ORPHA:137605
161742	SPRED1	HP:0000592	Blue sclerae	2/7	OMIM:615777
161742	SPRED1	HP:0000568	Microphthalmia	1/6	OMIM:153400
161742	SPRED1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
161742	SPRED1	HP:0012514	Lower limb pain	4/4	OMIM:131300
162417	NAGS	HP:0002465	Poor speech	HP:0040283	ORPHA:927
162417	NAGS	HP:0020221	Clonic seizure	1/3	OMIM:237310
162417	NAGS	HP:0500149	Hyperglutamatemia	2/2	OMIM:237310
162417	NAGS	HP:0001298	Encephalopathy	HP:0040284	ORPHA:927
162417	NAGS	HP:0001297	Stroke	HP:0040284	ORPHA:927
162417	NAGS	HP:0001276	Hypertonia	1/3	OMIM:237310
162417	NAGS	HP:0001271	Polyneuropathy	HP:0040284	ORPHA:927
162417	NAGS	HP:0001289	Confusion	-	OMIM:237310
162417	NAGS	HP:0001289	Confusion	HP:0040283	ORPHA:927
162417	NAGS	HP:0001254	Lethargy	HP:0040283	ORPHA:927
162417	NAGS	HP:0001254	Lethargy	3/3	OMIM:237310
162417	NAGS	HP:0001250	Seizure	3/3	OMIM:237310
162417	NAGS	HP:0001250	Seizure	HP:0040283	ORPHA:927
162417	NAGS	HP:0001251	Ataxia	HP:0040284	ORPHA:927
162417	NAGS	HP:0001263	Global developmental delay	HP:0040283	ORPHA:927
162417	NAGS	HP:0001259	Coma	2/3	OMIM:237310
162417	NAGS	HP:0001259	Coma	HP:0040283	ORPHA:927
162417	NAGS	HP:0000007	Autosomal recessive inheritance	-	OMIM:237310
162417	NAGS	HP:0002637	Cerebral ischemia	HP:0040284	ORPHA:927
162417	NAGS	HP:0008947	Floppy infant	HP:0040282	ORPHA:927
162417	NAGS	HP:0002789	Tachypnea	1/3	OMIM:237310
162417	NAGS	HP:0031258	Delirium	HP:0040284	ORPHA:927
162417	NAGS	HP:0002018	Nausea	HP:0040282	ORPHA:927
162417	NAGS	HP:0003348	Hyperalaninemia	1/3	OMIM:237310
162417	NAGS	HP:0003348	Hyperalaninemia	HP:0040283	ORPHA:927
162417	NAGS	HP:0002014	Diarrhea	HP:0040284	ORPHA:927
162417	NAGS	HP:0002013	Vomiting	1/3	OMIM:237310
162417	NAGS	HP:0002013	Vomiting	HP:0040282	ORPHA:927
162417	NAGS	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:927
162417	NAGS	HP:0100543	Cognitive impairment	-	OMIM:237310
162417	NAGS	HP:0002098	Respiratory distress	HP:0040284	ORPHA:927
162417	NAGS	HP:0002098	Respiratory distress	3/3	OMIM:237310
162417	NAGS	HP:6000161	Reduced hepatic N-acetylglutamate synthase activity	1/1	OMIM:237310
162417	NAGS	HP:0002045	Hypothermia	1/3	OMIM:237310
162417	NAGS	HP:0002039	Anorexia	1/3	OMIM:237310
162417	NAGS	HP:0010550	Paraplegia	HP:0040284	ORPHA:927
162417	NAGS	HP:0010529	Echolalia	HP:0040284	ORPHA:927
162417	NAGS	HP:0008281	Acute hyperammonemia	HP:0040283	ORPHA:927
162417	NAGS	HP:0003572	Low plasma citrulline	2/3	OMIM:237310
162417	NAGS	HP:0002240	Hepatomegaly	HP:0040284	ORPHA:927
162417	NAGS	HP:0100785	Insomnia	HP:0040283	ORPHA:927
162417	NAGS	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:927
162417	NAGS	HP:0002315	Headache	HP:0040283	ORPHA:927
162417	NAGS	HP:0002329	Drowsiness	HP:0040283	ORPHA:927
162417	NAGS	HP:0003623	Neonatal onset	3/3	OMIM:237310
162417	NAGS	HP:0007185	Loss of consciousness	HP:0040283	ORPHA:927
162417	NAGS	HP:0001948	Alkalosis	1/3	OMIM:237310
162417	NAGS	HP:0001987	Hyperammonemia	3/3	OMIM:237310
162417	NAGS	HP:0001987	Hyperammonemia	HP:0040281	ORPHA:927
162417	NAGS	HP:0004396	Poor appetite	HP:0040283	ORPHA:927
162417	NAGS	HP:0000739	Anxiety	HP:0040283	ORPHA:927
162417	NAGS	HP:0000733	Motor stereotypy	HP:0040284	ORPHA:927
162417	NAGS	HP:0000718	Aggressive behavior	-	OMIM:237310
162417	NAGS	HP:0000712	Emotional lability	HP:0040283	ORPHA:927
162417	NAGS	HP:0000713	Agitation	HP:0040283	ORPHA:927
162417	NAGS	HP:0000725	Psychotic episodes	HP:0040284	ORPHA:927
162417	NAGS	HP:0000708	Atypical behavior	HP:0040284	ORPHA:927
162417	NAGS	HP:0003217	Hyperglutaminemia	HP:0040283	ORPHA:927
162417	NAGS	HP:0003217	Hyperglutaminemia	3/3	OMIM:237310
162417	NAGS	HP:0000252	Microcephaly	HP:0040284	ORPHA:927
162417	NAGS	HP:0002863	Myelodysplasia	HP:0040284	ORPHA:927
162417	NAGS	HP:0001508	Failure to thrive	-	OMIM:237310
162417	NAGS	HP:0001508	Failure to thrive	HP:0040283	ORPHA:927
162417	NAGS	HP:0012378	Fatigue	HP:0040283	ORPHA:927
162417	NAGS	HP:0006582	Reye syndrome-like episodes	HP:0040284	ORPHA:927
162514	TRPV3	HP:0001250	Seizure	HP:0040283	ORPHA:659
162514	TRPV3	HP:0001231	Abnormal fingernail morphology	HP:0040281	ORPHA:659
162514	TRPV3	HP:0007410	Palmoplantar hyperhidrosis	HP:0040281	ORPHA:659
162514	TRPV3	HP:0031057	Skin fissure	HP:0040281	ORPHA:659
162514	TRPV3	HP:0031013	Ankylosis	HP:0040281	ORPHA:659
162514	TRPV3	HP:0001371	Flexion contracture	-	OMIM:614594
162514	TRPV3	HP:0007460	Autoamputation of digits	1/6	OMIM:614594
162514	TRPV3	HP:0000006	Autosomal dominant inheritance	-	OMIM:616400
162514	TRPV3	HP:0000006	Autosomal dominant inheritance	-	OMIM:614594
162514	TRPV3	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:659
162514	TRPV3	HP:0000157	Abnormality of the tongue	HP:0040283	ORPHA:659
162514	TRPV3	HP:0000168	Abnormality of the gingiva	HP:0040283	ORPHA:659
162514	TRPV3	HP:0002797	Osteolysis	HP:0040283	ORPHA:659
162514	TRPV3	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:659
162514	TRPV3	HP:0002164	Nail dysplasia	-	OMIM:614594
162514	TRPV3	HP:0011830	Abnormal oral mucosa morphology	HP:0040283	ORPHA:659
162514	TRPV3	HP:0034521	Periorificial hyperkeratosis	6/6	OMIM:614594
162514	TRPV3	HP:0003593	Infantile onset	6/6	OMIM:614594
162514	TRPV3	HP:0008404	Nail dystrophy	-	OMIM:614594
162514	TRPV3	HP:0002289	Alopecia universalis	HP:0040283	OMIM:614594
162514	TRPV3	HP:0008392	Subungual hyperkeratosis	-	OMIM:614594
162514	TRPV3	HP:0001036	Parakeratosis	-	OMIM:614594
162514	TRPV3	HP:0001072	Thickened skin	HP:0040281	ORPHA:659
162514	TRPV3	HP:0200042	Skin ulcer	HP:0040282	ORPHA:659
162514	TRPV3	HP:0010783	Erythema	HP:0040281	ORPHA:659
162514	TRPV3	HP:0009775	Amniotic constriction ring	4/6	OMIM:614594
162514	TRPV3	HP:0005588	Patchy palmoplantar hyperkeratosis	2/2	OMIM:616400
162514	TRPV3	HP:0000670	Carious teeth	HP:0040282	ORPHA:659
162514	TRPV3	HP:0000668	Hypodontia	HP:0040282	ORPHA:659
162514	TRPV3	HP:0040009	Hyperparakeratosis	3/3	OMIM:614594
162514	TRPV3	HP:0000975	Hyperhidrosis	HP:0040283	OMIM:614594
162514	TRPV3	HP:0000989	Pruritus	6/6	OMIM:614594
162514	TRPV3	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:659
162514	TRPV3	HP:0000982	Palmoplantar keratoderma	6/6	OMIM:614594
162514	TRPV3	HP:0000970	Anhidrosis	HP:0040281	ORPHA:659
162514	TRPV3	HP:0040162	Orthokeratosis	3/3	OMIM:614594
162514	TRPV3	HP:0008070	Sparse hair	HP:0040281	ORPHA:659
162514	TRPV3	HP:0008070	Sparse hair	HP:0040283	OMIM:614594
162514	TRPV3	HP:0008069	Neoplasm of the skin	HP:0040283	ORPHA:659
162514	TRPV3	HP:0001596	Alopecia	HP:0040283	ORPHA:659
162514	TRPV3	HP:0007759	Opacification of the corneal stroma	HP:0040283	OMIM:614594
162514	TRPV3	HP:0002861	Melanoma	HP:0040283	ORPHA:659
162514	TRPV3	HP:0007957	Corneal opacity	HP:0040283	OMIM:614594
162514	TRPV3	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:659
163175	LGI4	HP:0002421	Poor head control	1/1	OMIM:617468
163175	LGI4	HP:0001284	Areflexia	1/1	OMIM:617468
163175	LGI4	HP:0001252	Hypotonia	1/1	OMIM:617468
163175	LGI4	HP:0001252	Hypotonia	HP:0040281	ORPHA:2680
163175	LGI4	HP:0003826	Stillbirth	2/9	OMIM:617468
163175	LGI4	HP:0001376	Limitation of joint mobility	HP:0040281	ORPHA:2680
163175	LGI4	HP:0001371	Flexion contracture	-	OMIM:617468
163175	LGI4	HP:0000007	Autosomal recessive inheritance	-	OMIM:617468
163175	LGI4	HP:0001315	Reduced tendon reflexes	HP:0040281	ORPHA:2680
163175	LGI4	HP:0002089	Pulmonary hypoplasia	3/9	OMIM:617468
163175	LGI4	HP:0002098	Respiratory distress	HP:0040281	ORPHA:2680
163175	LGI4	HP:0002069	Bilateral tonic-clonic seizure	1/1	OMIM:617468
163175	LGI4	HP:0003457	EMG abnormality	HP:0040281	ORPHA:2680
163175	LGI4	HP:0002384	Focal impaired awareness seizure	1/1	OMIM:617468
163175	LGI4	HP:0003691	Scapular winging	1/1	OMIM:617468
163175	LGI4	HP:0000678	Dental crowding	1/1	OMIM:617468
163175	LGI4	HP:0001989	Fetal akinesia sequence	2/9	OMIM:617468
163175	LGI4	HP:0005684	Distal arthrogryposis	2/9	OMIM:617468
163175	LGI4	HP:0011461	Fetal onset	9/9	OMIM:617468
163175	LGI4	HP:0003273	Hip contracture	3/3	OMIM:617468
163175	LGI4	HP:0000278	Retrognathia	4/4	OMIM:617468
163175	LGI4	HP:0006466	Ankle flexion contracture	3/3	OMIM:617468
163175	LGI4	HP:0002804	Arthrogryposis multiplex congenita	-	OMIM:617468
163175	LGI4	HP:0006380	Knee flexion contracture	5/5	OMIM:617468
163175	LGI4	HP:0000218	High palate	1/1	OMIM:617468
163175	LGI4	HP:0001558	Decreased fetal movement	9/9	OMIM:617468
163175	LGI4	HP:0012385	Camptodactyly	5/5	OMIM:617468
163175	LGI4	HP:0000341	Narrow forehead	1/1	OMIM:617468
163175	LGI4	HP:0000347	Micrognathia	4/4	OMIM:617468
163175	LGI4	HP:0002987	Elbow flexion contracture	6/6	OMIM:617468
163175	LGI4	HP:0006659	Internally rotated shoulders	1/1	OMIM:617468
163175	LGI4	HP:0000486	Strabismus	1/1	OMIM:617468
163175	LGI4	HP:0000411	Protruding ear	1/1	OMIM:617468
163175	LGI4	HP:0001762	Talipes equinovarus	-	OMIM:617468
163175	LGI4	HP:0000508	Ptosis	1/1	OMIM:617468
163175	LGI4	HP:0000565	Esotropia	1/1	OMIM:617468
163183	SYNE4	HP:0000007	Autosomal recessive inheritance	-	OMIM:615540
163183	SYNE4	HP:0003593	Infantile onset	-	OMIM:615540
163183	SYNE4	HP:0003577	Congenital onset	-	OMIM:615540
163183	SYNE4	HP:0011463	Childhood onset	-	OMIM:615540
163183	SYNE4	HP:0000408	Progressive sensorineural hearing impairment	6/6	OMIM:615540
163786	SASS6	HP:0002465	Poor speech	4/4	OMIM:616402
163786	SASS6	HP:0010864	Intellectual disability, severe	4/4	OMIM:616402
163786	SASS6	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
163786	SASS6	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
163786	SASS6	HP:0001250	Seizure	2/4	OMIM:616402
163786	SASS6	HP:0001263	Global developmental delay	4/4	OMIM:616402
163786	SASS6	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
163786	SASS6	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
163786	SASS6	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
163786	SASS6	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
163786	SASS6	HP:0000007	Autosomal recessive inheritance	-	OMIM:616402
163786	SASS6	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
163786	SASS6	HP:0001320	Cerebellar vermis hypoplasia	1/1	OMIM:616402
163786	SASS6	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
163786	SASS6	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
163786	SASS6	HP:0003577	Congenital onset	4/4	OMIM:616402
163786	SASS6	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
163786	SASS6	HP:0004322	Short stature	HP:0040281	ORPHA:2512
163786	SASS6	HP:0000718	Aggressive behavior	4/4	OMIM:616402
163786	SASS6	HP:0011451	Primary microcephaly	4/4	OMIM:616402
163786	SASS6	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
163786	SASS6	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
163786	SASS6	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
163786	SASS6	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
163786	SASS6	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
163786	SASS6	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
164045	HFM1	HP:0008724	Hypoplasia of the ovary	3/3	OMIM:615724
164045	HFM1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615724
164045	HFM1	HP:0000141	Amenorrhea	3/3	OMIM:615724
164045	HFM1	HP:0008232	Elevated circulating follicle stimulating hormone level	3/3	OMIM:615724
164045	HFM1	HP:0008209	Premature ovarian insufficiency	3/3	OMIM:615724
164045	HFM1	HP:0011969	Elevated circulating luteinizing hormone level	3/3	OMIM:615724
164045	HFM1	HP:0011462	Young adult onset	3/3	OMIM:615724
164656	TMPRSS6	HP:0000007	Autosomal recessive inheritance	-	OMIM:206200
164656	TMPRSS6	HP:0040303	Decreased circulating iron concentration	HP:0040282	ORPHA:209981
164656	TMPRSS6	HP:0004840	Hypochromic microcytic anemia	HP:0040281	ORPHA:209981
164656	TMPRSS6	HP:0004840	Hypochromic microcytic anemia	-	OMIM:206200
164656	TMPRSS6	HP:0001017	Anemic pallor	HP:0040283	ORPHA:209981
164656	TMPRSS6	HP:0025066	Decreased mean corpuscular volume	HP:0040281	ORPHA:209981
164656	TMPRSS6	HP:0031877	Elevated circulating hepcidin concentration	-	OMIM:206200
164656	TMPRSS6	HP:0031877	Elevated circulating hepcidin concentration	HP:0040282	ORPHA:209981
164656	TMPRSS6	HP:0004447	Poikilocytosis	-	OMIM:206200
164656	TMPRSS6	HP:0001596	Alopecia	HP:0040284	ORPHA:209981
164656	TMPRSS6	HP:0001598	Concave nail	HP:0040284	ORPHA:209981
164656	TMPRSS6	HP:0030318	Angular cheilitis	HP:0040283	ORPHA:209981
164656	TMPRSS6	HP:0012464	Decreased transferrin saturation	HP:0040282	ORPHA:209981
164656	TMPRSS6	HP:0011273	Anisocytosis	-	OMIM:206200
164656	TMPRSS6	HP:0001891	Iron deficiency anemia	HP:0040281	ORPHA:209981
164781	DAW1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620570
164781	DAW1	HP:0002783	Recurrent lower respiratory tract infections	1/4	OMIM:620570
164781	DAW1	HP:0003363	Abdominal situs inversus	1/5	OMIM:620570
164781	DAW1	HP:0003593	Infantile onset	1/4	OMIM:620570
164781	DAW1	HP:0004383	Hypoplastic left heart	2/6	OMIM:620570
164781	DAW1	HP:0011463	Childhood onset	3/4	OMIM:620570
164781	DAW1	HP:0011567	Sinus venosus atrial septal defect	1/6	OMIM:620570
164781	DAW1	HP:0011553	Discordant atrioventricular connection	1/6	OMIM:620570
164781	DAW1	HP:0011560	Mitral atresia	1/6	OMIM:620570
164781	DAW1	HP:0034315	Chronic cough	1/4	OMIM:620570
164781	DAW1	HP:0005160	Total anomalous pulmonary venous return	1/6	OMIM:620570
164781	DAW1	HP:0001696	Situs inversus totalis	2/5	OMIM:620570
164781	DAW1	HP:0001669	Transposition of the great arteries	1/6	OMIM:620570
164781	DAW1	HP:0001643	Patent ductus arteriosus	1/6	OMIM:620570
164781	DAW1	HP:0001642	Pulmonic stenosis	2/6	OMIM:620570
164781	DAW1	HP:0001655	Patent foramen ovale	1/6	OMIM:620570
164781	DAW1	HP:0001629	Ventricular septal defect	2/6	OMIM:620570
164781	DAW1	HP:0001631	Atrial septal defect	1/1	OMIM:620570
164781	DAW1	HP:0000403	Recurrent otitis media	3/4	OMIM:620570
164781	DAW1	HP:0001719	Double outlet right ventricle	2/6	OMIM:620570
164781	DAW1	HP:0031565	Abdominal situs ambiguus	2/5	OMIM:620570
165829	GPR156	HP:0000007	Autosomal recessive inheritance	-	OMIM:620551
165829	GPR156	HP:0003577	Congenital onset	4/5	OMIM:620551
165829	GPR156	HP:0011463	Childhood onset	1/5	OMIM:620551
165829	GPR156	HP:0000407	Sensorineural hearing impairment	5/5	OMIM:620551
165829	GPR156	HP:0001756	Vestibular hyporeflexia	0/5	OMIM:620551
165829	GPR156	HP:0000545	Myopia	3/5	OMIM:620551
165918	RNF168	HP:0001288	Gait disturbance	HP:0040283	ORPHA:420741
165918	RNF168	HP:0001251	Ataxia	-	OMIM:611943
165918	RNF168	HP:0001251	Ataxia	HP:0040283	ORPHA:420741
165918	RNF168	HP:0001263	Global developmental delay	HP:0040283	ORPHA:420741
165918	RNF168	HP:0010997	Chromosomal breakage induced by ionizing radiation	HP:0040281	ORPHA:420741
165918	RNF168	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:420741
165918	RNF168	HP:0001369	Arthritis	HP:0040283	ORPHA:420741
165918	RNF168	HP:0001328	Specific learning disability	HP:0040282	ORPHA:420741
165918	RNF168	HP:0000007	Autosomal recessive inheritance	-	OMIM:611943
165918	RNF168	HP:0008940	Generalized lymphadenopathy	HP:0040283	ORPHA:420741
165918	RNF168	HP:0006254	Elevated circulating alpha-fetoprotein concentration	HP:0040281	ORPHA:420741
165918	RNF168	HP:0002720	Decreased circulating IgA concentration	HP:0040281	ORPHA:420741
165918	RNF168	HP:0002721	Immunodeficiency	-	OMIM:611943
165918	RNF168	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:420741
165918	RNF168	HP:0002027	Abdominal pain	HP:0040283	ORPHA:420741
165918	RNF168	HP:0002014	Diarrhea	HP:0040283	ORPHA:420741
165918	RNF168	HP:0002090	Pneumonia	HP:0040282	ORPHA:420741
165918	RNF168	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:420741
165918	RNF168	HP:0002206	Pulmonary fibrosis	HP:0040283	OMIM:611943
165918	RNF168	HP:0002206	Pulmonary fibrosis	HP:0040283	ORPHA:420741
165918	RNF168	HP:0010677	Enuresis nocturna	HP:0040283	ORPHA:420741
165918	RNF168	HP:0007057	Poor hand-eye coordination	HP:0040283	ORPHA:420741
165918	RNF168	HP:0001009	Telangiectasia	HP:0040283	ORPHA:420741
165918	RNF168	HP:0002315	Headache	HP:0040283	ORPHA:420741
165918	RNF168	HP:0010783	Erythema	HP:0040283	ORPHA:420741
165918	RNF168	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:420741
165918	RNF168	HP:0002312	Clumsiness	HP:0040283	ORPHA:420741
165918	RNF168	HP:0001954	Recurrent fever	HP:0040282	ORPHA:420741
165918	RNF168	HP:0011342	Mild global developmental delay	-	OMIM:611943
165918	RNF168	HP:0001999	Abnormal facial shape	-	OMIM:611943
165918	RNF168	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:420741
165918	RNF168	HP:0004322	Short stature	-	OMIM:611943
165918	RNF168	HP:0004322	Short stature	HP:0040281	ORPHA:420741
165918	RNF168	HP:0004315	Decreased circulating IgG concentration	-	OMIM:611943
165918	RNF168	HP:0004315	Decreased circulating IgG concentration	HP:0040281	ORPHA:420741
165918	RNF168	HP:0000712	Emotional lability	HP:0040283	ORPHA:420741
165918	RNF168	HP:0012768	Neonatal asphyxia	HP:0040283	ORPHA:420741
165918	RNF168	HP:0030746	Intraventricular hemorrhage	HP:0040283	ORPHA:420741
165918	RNF168	HP:0004429	Recurrent viral infections	HP:0040283	ORPHA:420741
165918	RNF168	HP:0000958	Dry skin	-	OMIM:611943
165918	RNF168	HP:0040189	Scaling skin	HP:0040283	ORPHA:420741
165918	RNF168	HP:0000252	Microcephaly	HP:0040283	OMIM:611943
165918	RNF168	HP:0000252	Microcephaly	HP:0040283	ORPHA:420741
165918	RNF168	HP:0002878	Respiratory failure	HP:0040283	ORPHA:420741
165918	RNF168	HP:0002850	Decreased circulating total IgM	HP:0040283	ORPHA:420741
165918	RNF168	HP:0012387	Bronchitis	HP:0040282	ORPHA:420741
165918	RNF168	HP:0000388	Otitis media	HP:0040283	ORPHA:420741
165918	RNF168	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040283	ORPHA:420741
165918	RNF168	HP:0006532	Recurrent pneumonia	HP:0040282	ORPHA:420741
165918	RNF168	HP:0011133	Increased sensitivity to ionizing radiation	-	OMIM:611943
165918	RNF168	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:420741
165918	RNF168	HP:0011108	Recurrent sinusitis	HP:0040282	ORPHA:420741
165918	RNF168	HP:0000524	Conjunctival telangiectasia	HP:0040283	ORPHA:420741
165918	RNF168	HP:0001824	Weight loss	HP:0040283	ORPHA:420741
166378	AFG2A	HP:0002451	Limb dystonia	HP:0040284	ORPHA:457351
166378	AFG2A	HP:0010864	Intellectual disability, severe	-	OMIM:616577
166378	AFG2A	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:457351
166378	AFG2A	HP:0001276	Hypertonia	3/14	OMIM:616577
166378	AFG2A	HP:0001250	Seizure	13/14	OMIM:616577
166378	AFG2A	HP:0001250	Seizure	HP:0040282	ORPHA:457351
166378	AFG2A	HP:0001252	Hypotonia	12/14	OMIM:616577
166378	AFG2A	HP:0001263	Global developmental delay	14/14	OMIM:616577
166378	AFG2A	HP:0001263	Global developmental delay	HP:0040281	ORPHA:457351
166378	AFG2A	HP:0001257	Spasticity	9/14	OMIM:616577
166378	AFG2A	HP:0001257	Spasticity	HP:0040282	ORPHA:457351
166378	AFG2A	HP:0002540	Inability to walk	12/12	OMIM:616577
166378	AFG2A	HP:0002540	Inability to walk	HP:0040282	ORPHA:457351
166378	AFG2A	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0002509	Limb hypertonia	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0033725	Thin corpus callosum	2/12	OMIM:616577
166378	AFG2A	HP:0001344	Absent speech	13/13	OMIM:616577
166378	AFG2A	HP:0001344	Absent speech	HP:0040282	ORPHA:457351
166378	AFG2A	HP:0000007	Autosomal recessive inheritance	-	OMIM:616577
166378	AFG2A	HP:0002650	Scoliosis	4/14	OMIM:616577
166378	AFG2A	HP:0002650	Scoliosis	HP:0040284	ORPHA:457351
166378	AFG2A	HP:0001319	Neonatal hypotonia	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0008947	Floppy infant	HP:0040282	ORPHA:457351
166378	AFG2A	HP:0008936	Axial hypotonia	3/14	OMIM:616577
166378	AFG2A	HP:0002721	Immunodeficiency	4/12	OMIM:616577
166378	AFG2A	HP:0002721	Immunodeficiency	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0002020	Gastroesophageal reflux	4/14	OMIM:616577
166378	AFG2A	HP:0002019	Constipation	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:457351
166378	AFG2A	HP:0002079	Hypoplasia of the corpus callosum	1/14	OMIM:616577
166378	AFG2A	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:457351
166378	AFG2A	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:457351
166378	AFG2A	HP:0003429	CNS hypomyelination	1/14	OMIM:616577
166378	AFG2A	HP:0002188	Delayed CNS myelination	2/12	OMIM:616577
166378	AFG2A	HP:0003593	Infantile onset	10/14	OMIM:616577
166378	AFG2A	HP:0003577	Congenital onset	4/14	OMIM:616577
166378	AFG2A	HP:0100704	Cerebral visual impairment	9/13	OMIM:616577
166378	AFG2A	HP:0100704	Cerebral visual impairment	HP:0040282	ORPHA:457351
166378	AFG2A	HP:0100716	Self-injurious behavior	HP:0040284	ORPHA:457351
166378	AFG2A	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0011968	Feeding difficulties	9/14	OMIM:616577
166378	AFG2A	HP:0020049	Exodeviation	HP:0040284	ORPHA:457351
166378	AFG2A	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:457351
166378	AFG2A	HP:0002353	EEG abnormality	-	OMIM:616577
166378	AFG2A	HP:0002353	EEG abnormality	HP:0040281	ORPHA:457351
166378	AFG2A	HP:0010838	High nonceruloplasmin-bound serum copper	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0006863	Severe expressive language delay	HP:0040282	ORPHA:457351
166378	AFG2A	HP:0006808	Cerebral hypomyelination	HP:0040282	ORPHA:457351
166378	AFG2A	HP:0000639	Nystagmus	3/13	OMIM:616577
166378	AFG2A	HP:0011352	Severe receptive language delay	HP:0040282	ORPHA:457351
166378	AFG2A	HP:0004322	Short stature	2/14	OMIM:616577
166378	AFG2A	HP:0000733	Motor stereotypy	HP:0040284	ORPHA:457351
166378	AFG2A	HP:0000729	Autistic behavior	HP:0040282	ORPHA:457351
166378	AFG2A	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040284	ORPHA:457351
166378	AFG2A	HP:0011451	Primary microcephaly	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0003189	Long nose	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0000817	Reduced eye contact	HP:0040282	ORPHA:457351
166378	AFG2A	HP:0004532	Sacral hypertrichosis	HP:0040284	ORPHA:457351
166378	AFG2A	HP:0000278	Retrognathia	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0000252	Microcephaly	12/13	OMIM:616577
166378	AFG2A	HP:0000252	Microcephaly	HP:0040281	ORPHA:457351
166378	AFG2A	HP:0001508	Failure to thrive	6/14	OMIM:616577
166378	AFG2A	HP:0001631	Atrial septal defect	HP:0040284	ORPHA:457351
166378	AFG2A	HP:0000407	Sensorineural hearing impairment	14/14	OMIM:616577
166378	AFG2A	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:457351
166378	AFG2A	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0000486	Strabismus	2/13	OMIM:616577
166378	AFG2A	HP:0012469	Infantile spasms	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0012444	Brain atrophy	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0012450	Chronic constipation	3/14	OMIM:616577
166378	AFG2A	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:457351
166378	AFG2A	HP:0000430	Underdeveloped nasal alae	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0011290	EEG with frontal sharp slow waves	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0000505	Visual impairment	13/13	OMIM:616577
166378	AFG2A	HP:0000505	Visual impairment	HP:0040281	ORPHA:457351
166378	AFG2A	HP:0011229	Broad eyebrow	HP:0040283	ORPHA:457351
166378	AFG2A	HP:0001873	Thrombocytopenia	3/14	OMIM:616577
166378	AFG2A	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:457351
166379	BBS12	HP:0001156	Brachydactyly	HP:0040282	ORPHA:110
166379	BBS12	HP:0001162	Postaxial hand polydactyly	1/2	OMIM:615989
166379	BBS12	HP:0001159	Syndactyly	HP:0040283	ORPHA:110
166379	BBS12	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
166379	BBS12	HP:0001250	Seizure	HP:0040283	ORPHA:110
166379	BBS12	HP:0001251	Ataxia	HP:0040283	ORPHA:110
166379	BBS12	HP:0001249	Intellectual disability	HP:0040283	ORPHA:110
166379	BBS12	HP:0001257	Spasticity	HP:0040283	ORPHA:110
166379	BBS12	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:110
166379	BBS12	HP:0008734	Decreased testicular size	HP:0040283	ORPHA:110
166379	BBS12	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:110
166379	BBS12	HP:0008724	Hypoplasia of the ovary	HP:0040282	ORPHA:110
166379	BBS12	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:110
166379	BBS12	HP:0001397	Hepatic steatosis	HP:0040283	ORPHA:110
166379	BBS12	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:110
166379	BBS12	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:110
166379	BBS12	HP:0000072	Hydroureter	1/2	OMIM:615989
166379	BBS12	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:110
166379	BBS12	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:110
166379	BBS12	HP:0001328	Specific learning disability	HP:0040282	ORPHA:110
166379	BBS12	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:110
166379	BBS12	HP:0000007	Autosomal recessive inheritance	-	OMIM:615989
166379	BBS12	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
166379	BBS12	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
166379	BBS12	HP:0002608	Celiac disease	HP:0040284	ORPHA:110
166379	BBS12	HP:0008915	Childhood-onset truncal obesity	HP:0040281	ORPHA:110
166379	BBS12	HP:0000163	Abnormal oral cavity morphology	HP:0040282	ORPHA:110
166379	BBS12	HP:0000135	Hypogonadism	HP:0040282	ORPHA:110
166379	BBS12	HP:0000135	Hypogonadism	2/2	OMIM:615989
166379	BBS12	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:110
166379	BBS12	HP:0000148	Vaginal atresia	1/2	OMIM:615989
166379	BBS12	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
166379	BBS12	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:110
166379	BBS12	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
166379	BBS12	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:110
166379	BBS12	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:110
166379	BBS12	HP:0000126	Hydronephrosis	1/2	OMIM:615989
166379	BBS12	HP:0000100	Nephrotic syndrome	HP:0040283	ORPHA:110
166379	BBS12	HP:0002037	Inflammation of the large intestine	HP:0040284	ORPHA:110
166379	BBS12	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:110
166379	BBS12	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:110
166379	BBS12	HP:0100543	Cognitive impairment	-	OMIM:615989
166379	BBS12	HP:0002099	Asthma	HP:0040283	ORPHA:110
166379	BBS12	HP:0010442	Polydactyly	3/3	OMIM:615989
166379	BBS12	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:110
166379	BBS12	HP:0002167	Abnormal speech pattern	HP:0040283	ORPHA:110
166379	BBS12	HP:0003577	Congenital onset	5/5	OMIM:615989
166379	BBS12	HP:0002251	Aganglionic megacolon	HP:0040284	ORPHA:110
166379	BBS12	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:110
166379	BBS12	HP:0008376	Nasal dysarthria	HP:0040283	ORPHA:110
166379	BBS12	HP:0010747	Medial flaring of the eyebrow	HP:0040283	ORPHA:110
166379	BBS12	HP:0003621	Juvenile onset	8/19	OMIM:180100
166379	BBS12	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:110
166379	BBS12	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:110
166379	BBS12	HP:0000639	Nystagmus	HP:0040282	ORPHA:110
166379	BBS12	HP:0000618	Blindness	HP:0040282	ORPHA:110
166379	BBS12	HP:0000613	Photophobia	HP:0040282	ORPHA:110
166379	BBS12	HP:0000678	Dental crowding	HP:0040282	ORPHA:110
166379	BBS12	HP:0000691	Microdontia	HP:0040283	ORPHA:110
166379	BBS12	HP:0000662	Nyctalopia	HP:0040282	ORPHA:110
166379	BBS12	HP:0000662	Nyctalopia	26/28	OMIM:180100
166379	BBS12	HP:0000668	Hypodontia	HP:0040282	ORPHA:110
166379	BBS12	HP:0004322	Short stature	HP:0040282	ORPHA:110
166379	BBS12	HP:0000800	Cystic renal dysplasia	2/2	OMIM:615989
166379	BBS12	HP:0000739	Anxiety	HP:0040283	ORPHA:110
166379	BBS12	HP:0000736	Short attention span	HP:0040282	ORPHA:110
166379	BBS12	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:110
166379	BBS12	HP:0000716	Depression	HP:0040282	ORPHA:110
166379	BBS12	HP:0000717	Autism	HP:0040282	ORPHA:110
166379	BBS12	HP:0000712	Emotional lability	HP:0040283	ORPHA:110
166379	BBS12	HP:0000708	Atypical behavior	HP:0040282	ORPHA:110
166379	BBS12	HP:0011463	Childhood onset	3/19	OMIM:180100
166379	BBS12	HP:0011462	Young adult onset	8/19	OMIM:180100
166379	BBS12	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:110
166379	BBS12	HP:0000789	Infertility	HP:0040283	ORPHA:110
166379	BBS12	HP:0005769	Fifth finger distal phalanx clinodactyly	HP:0040284	ORPHA:110
166379	BBS12	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:110
166379	BBS12	HP:0000858	Irregular menstruation	HP:0040283	ORPHA:110
166379	BBS12	HP:0000855	Insulin resistance	HP:0040283	ORPHA:110
166379	BBS12	HP:0000818	Abnormality of the endocrine system	HP:0040283	ORPHA:110
166379	BBS12	HP:0000822	Hypertension	HP:0040282	ORPHA:110
166379	BBS12	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:110
166379	BBS12	HP:0003233	Decreased HDL cholesterol concentration	HP:0040282	ORPHA:110
166379	BBS12	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:110
166379	BBS12	HP:0100259	Postaxial polydactyly	HP:0040282	ORPHA:110
166379	BBS12	HP:0000278	Retrognathia	HP:0040283	ORPHA:110
166379	BBS12	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
166379	BBS12	HP:0000218	High palate	HP:0040282	ORPHA:110
166379	BBS12	HP:0030010	Hydrometrocolpos	1/2	OMIM:615989
166379	BBS12	HP:0030010	Hydrometrocolpos	HP:0040283	ORPHA:110
166379	BBS12	HP:0001513	Obesity	HP:0040281	ORPHA:110
166379	BBS12	HP:0001513	Obesity	1/3	OMIM:615989
166379	BBS12	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
166379	BBS12	HP:0031500	Abdominal mass	1/2	OMIM:615989
166379	BBS12	HP:0025691	Impaired fasting glucose	HP:0040282	ORPHA:110
166379	BBS12	HP:0012384	Rhinitis	HP:0040283	ORPHA:110
166379	BBS12	HP:0011026	Aplasia/Hypoplasia of the vagina	HP:0040283	ORPHA:110
166379	BBS12	HP:0000388	Otitis media	HP:0040283	ORPHA:110
166379	BBS12	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:110
166379	BBS12	HP:0000365	Hearing impairment	HP:0040283	ORPHA:110
166379	BBS12	HP:0011024	Abnormality of the gastrointestinal tract	HP:0040283	ORPHA:110
166379	BBS12	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:110
166379	BBS12	HP:0000343	Long philtrum	HP:0040283	ORPHA:110
166379	BBS12	HP:0000316	Hypertelorism	HP:0040283	ORPHA:110
166379	BBS12	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:110
166379	BBS12	HP:0001638	Cardiomyopathy	HP:0040284	ORPHA:110
166379	BBS12	HP:0000400	Macrotia	HP:0040283	ORPHA:110
166379	BBS12	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:110
166379	BBS12	HP:0000483	Astigmatism	HP:0040283	ORPHA:110
166379	BBS12	HP:0000486	Strabismus	HP:0040283	ORPHA:110
166379	BBS12	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:110
166379	BBS12	HP:0000470	Short neck	HP:0040283	ORPHA:110
166379	BBS12	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:110
166379	BBS12	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:110
166379	BBS12	HP:0000518	Cataract	HP:0040283	ORPHA:110
166379	BBS12	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
166379	BBS12	HP:0000510	Rod-cone dystrophy	3/3	OMIM:615989
166379	BBS12	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:110
166379	BBS12	HP:0001830	Postaxial foot polydactyly	1/2	OMIM:615989
166379	BBS12	HP:0000575	Scotoma	5/18	OMIM:180100
166379	BBS12	HP:0000556	Retinal dystrophy	HP:0040280	ORPHA:110
166379	BBS12	HP:0000551	Color vision defect	HP:0040282	ORPHA:110
166379	BBS12	HP:0000548	Cone/cone-rod dystrophy	HP:0040281	ORPHA:110
166379	BBS12	HP:0000543	Optic disc pallor	1/1	OMIM:180100
166379	BBS12	HP:0000545	Myopia	-	OMIM:180100
166647	ADGRA3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
166647	ADGRA3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
166647	ADGRA3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
166647	ADGRA3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
166647	ADGRA3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
166647	ADGRA3	HP:0003621	Juvenile onset	8/19	OMIM:180100
166647	ADGRA3	HP:0000662	Nyctalopia	26/28	OMIM:180100
166647	ADGRA3	HP:0011463	Childhood onset	3/19	OMIM:180100
166647	ADGRA3	HP:0011462	Young adult onset	8/19	OMIM:180100
166647	ADGRA3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
166647	ADGRA3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
166647	ADGRA3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
166647	ADGRA3	HP:0000575	Scotoma	5/18	OMIM:180100
166647	ADGRA3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
166647	ADGRA3	HP:0000545	Myopia	-	OMIM:180100
166785	MMAA	HP:0001290	Generalized hypotonia	-	OMIM:251100
166785	MMAA	HP:0001254	Lethargy	-	OMIM:251100
166785	MMAA	HP:0001250	Seizure	-	OMIM:251100
166785	MMAA	HP:0001252	Hypotonia	1/1	OMIM:251100
166785	MMAA	HP:0001263	Global developmental delay	-	OMIM:251100
166785	MMAA	HP:0001259	Coma	-	OMIM:251100
166785	MMAA	HP:0001348	Brisk reflexes	1/1	OMIM:251100
166785	MMAA	HP:0008872	Feeding difficulties in infancy	-	OMIM:251100
166785	MMAA	HP:0000007	Autosomal recessive inheritance	-	OMIM:251100
166785	MMAA	HP:0001337	Tremor	-	OMIM:251100
166785	MMAA	HP:0012120	Methylmalonic aciduria	1/1	OMIM:251100
166785	MMAA	HP:0002013	Vomiting	-	OMIM:251100
166785	MMAA	HP:0002098	Respiratory distress	-	OMIM:251100
166785	MMAA	HP:0002154	Hyperglycinemia	-	OMIM:251100
166785	MMAA	HP:0003593	Infantile onset	-	OMIM:251100
166785	MMAA	HP:0002240	Hepatomegaly	-	OMIM:251100
166785	MMAA	HP:0034661	Elevated urine 3-hydroxypropionic acid level	1/1	OMIM:251100
166785	MMAA	HP:0034662	Elevated urine 2-methylcitric acid level	1/1	OMIM:251100
166785	MMAA	HP:0001944	Dehydration	-	OMIM:251100
166785	MMAA	HP:0001946	Ketosis	-	OMIM:251100
166785	MMAA	HP:0001942	Metabolic acidosis	1/1	OMIM:251100
166785	MMAA	HP:0001903	Anemia	-	OMIM:251100
166785	MMAA	HP:0001987	Hyperammonemia	1/1	OMIM:251100
166785	MMAA	HP:0031962	Elevated serum anion gap	1/1	OMIM:251100
166785	MMAA	HP:0040126	Abnormal circulating vitamin B12 concentration	0/1	OMIM:251100
166785	MMAA	HP:0003145	Decreased circulating adenosylcobalamin concentration	-	OMIM:251100
166785	MMAA	HP:0003210	Decreased methylmalonyl-CoA mutase activity	-	OMIM:251100
166785	MMAA	HP:0001508	Failure to thrive	-	OMIM:251100
166785	MMAA	HP:0002919	Ketonuria	1/1	OMIM:251100
166785	MMAA	HP:0002912	Methylmalonic acidemia	-	OMIM:251100
166785	MMAA	HP:0001873	Thrombocytopenia	-	OMIM:251100
166785	MMAA	HP:0001876	Pancytopenia	-	OMIM:251100
166785	MMAA	HP:0001875	Decreased total neutrophil count	-	OMIM:251100
166929	SGMS2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
166929	SGMS2	HP:0001293	Cranial nerve compression	-	OMIM:131300
166929	SGMS2	HP:0001270	Motor delay	HP:0040284	OMIM:126550
166929	SGMS2	HP:0001256	Intellectual disability, mild	-	OMIM:259770
166929	SGMS2	HP:0001252	Hypotonia	-	OMIM:259770
166929	SGMS2	HP:0001252	Hypotonia	2/7	OMIM:615777
166929	SGMS2	HP:0001249	Intellectual disability	5/7	OMIM:615777
166929	SGMS2	HP:0001263	Global developmental delay	1/1	OMIM:612394
166929	SGMS2	HP:0001263	Global developmental delay	-	OMIM:615777
166929	SGMS2	HP:0002515	Waddling gait	54/102	OMIM:131300
166929	SGMS2	HP:0001382	Joint hypermobility	-	OMIM:259770
166929	SGMS2	HP:0001382	Joint hypermobility	-	OMIM:615777
166929	SGMS2	HP:0002684	Thickened calvaria	-	OMIM:126550
166929	SGMS2	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
166929	SGMS2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
166929	SGMS2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
166929	SGMS2	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
166929	SGMS2	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
166929	SGMS2	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
166929	SGMS2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
166929	SGMS2	HP:0001324	Muscle weakness	40/96	OMIM:131300
166929	SGMS2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
166929	SGMS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
166929	SGMS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
166929	SGMS2	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
166929	SGMS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:126550
166929	SGMS2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
166929	SGMS2	HP:0002650	Scoliosis	1/5	OMIM:259770
166929	SGMS2	HP:0002650	Scoliosis	1/1	OMIM:612394
166929	SGMS2	HP:0002650	Scoliosis	12/14	OMIM:131300
166929	SGMS2	HP:0002650	Scoliosis	-	OMIM:126550
166929	SGMS2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
166929	SGMS2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
166929	SGMS2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
166929	SGMS2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
166929	SGMS2	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
166929	SGMS2	HP:0000175	Cleft palate	2/7	OMIM:615777
166929	SGMS2	HP:0002757	Recurrent fractures	4/5	OMIM:259770
166929	SGMS2	HP:0002757	Recurrent fractures	-	OMIM:126550
166929	SGMS2	HP:0002756	Pathologic fracture	-	OMIM:259770
166929	SGMS2	HP:0002756	Pathologic fracture	1/1	OMIM:612394
166929	SGMS2	HP:0002751	Kyphoscoliosis	-	OMIM:259770
166929	SGMS2	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
166929	SGMS2	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
166929	SGMS2	HP:0003388	Easy fatigability	36/76	OMIM:131300
166929	SGMS2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
166929	SGMS2	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
166929	SGMS2	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
166929	SGMS2	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
166929	SGMS2	HP:0002164	Nail dysplasia	1/1	OMIM:612394
166929	SGMS2	HP:0010557	Overlapping fingers	1/2	OMIM:612394
166929	SGMS2	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
166929	SGMS2	HP:0003593	Infantile onset	1/5	OMIM:259770
166929	SGMS2	HP:0003577	Congenital onset	4/5	OMIM:259770
166929	SGMS2	HP:0002208	Coarse hair	1/1	OMIM:612394
166929	SGMS2	HP:0003510	Severe short stature	7/7	OMIM:615777
166929	SGMS2	HP:0003510	Severe short stature	HP:0040284	OMIM:126550
166929	SGMS2	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
166929	SGMS2	HP:0025019	Arterial rupture	1/1	OMIM:612394
166929	SGMS2	HP:0002315	Headache	-	OMIM:131300
166929	SGMS2	HP:0004976	Knee dislocation	6/7	OMIM:615777
166929	SGMS2	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
166929	SGMS2	HP:0009803	Short phalanx of finger	-	OMIM:615777
166929	SGMS2	HP:0001089	Iris atrophy	-	OMIM:259770
166929	SGMS2	HP:0009763	Limb pain	63/92	OMIM:131300
166929	SGMS2	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
166929	SGMS2	HP:0003621	Juvenile onset	-	OMIM:131300
166929	SGMS2	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
166929	SGMS2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
166929	SGMS2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
166929	SGMS2	HP:6001056	Out-toeing	-	OMIM:131300
166929	SGMS2	HP:0000651	Diplopia	-	OMIM:131300
166929	SGMS2	HP:0000618	Blindness	5/5	OMIM:259770
166929	SGMS2	HP:0001956	Truncal obesity	2/7	OMIM:615777
166929	SGMS2	HP:0001903	Anemia	HP:0040283	OMIM:131300
166929	SGMS2	HP:0010049	Short metacarpal	-	OMIM:615777
166929	SGMS2	HP:0000678	Dental crowding	-	OMIM:615777
166929	SGMS2	HP:0000670	Carious teeth	-	OMIM:131300
166929	SGMS2	HP:0000670	Carious teeth	-	OMIM:126550
166929	SGMS2	HP:0011304	Broad thumb	2/7	OMIM:615777
166929	SGMS2	HP:0000668	Hypodontia	-	OMIM:615777
166929	SGMS2	HP:0000667	Phthisis bulbi	-	OMIM:259770
166929	SGMS2	HP:0000664	Synophrys	-	OMIM:615777
166929	SGMS2	HP:0004322	Short stature	-	OMIM:259770
166929	SGMS2	HP:0004396	Poor appetite	-	OMIM:131300
166929	SGMS2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
166929	SGMS2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
166929	SGMS2	HP:0003016	Metaphyseal widening	-	OMIM:259770
166929	SGMS2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
166929	SGMS2	HP:0003026	Short long bone	7/7	OMIM:615777
166929	SGMS2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
166929	SGMS2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
166929	SGMS2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
166929	SGMS2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
166929	SGMS2	HP:0000750	Delayed speech and language development	-	OMIM:615777
166929	SGMS2	HP:0011461	Fetal onset	7/7	OMIM:615777
166929	SGMS2	HP:0011461	Fetal onset	2/2	OMIM:612394
166929	SGMS2	HP:0000774	Narrow chest	2/7	OMIM:615777
166929	SGMS2	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
166929	SGMS2	HP:0003196	Short nose	1/1	OMIM:612394
166929	SGMS2	HP:0000926	Platyspondyly	-	OMIM:259770
166929	SGMS2	HP:0000926	Platyspondyly	1/7	OMIM:615777
166929	SGMS2	HP:0000926	Platyspondyly	1/1	OMIM:612394
166929	SGMS2	HP:0000926	Platyspondyly	HP:0040284	OMIM:126550
166929	SGMS2	HP:0003180	Flat acetabular roof	-	OMIM:615777
166929	SGMS2	HP:0003155	Elevated circulating alkaline phosphatase concentration	-	OMIM:126550
166929	SGMS2	HP:0004482	Relative macrocephaly	-	OMIM:615777
166929	SGMS2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
166929	SGMS2	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
166929	SGMS2	HP:0000823	Delayed puberty	-	OMIM:131300
166929	SGMS2	HP:0000894	Short clavicles	-	OMIM:615777
166929	SGMS2	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
166929	SGMS2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
166929	SGMS2	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
166929	SGMS2	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
166929	SGMS2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
166929	SGMS2	HP:0000939	Osteoporosis	4/5	OMIM:259770
166929	SGMS2	HP:0000939	Osteoporosis	-	OMIM:126550
166929	SGMS2	HP:0000938	Osteopenia	1/5	OMIM:259770
166929	SGMS2	HP:0000938	Osteopenia	1/1	OMIM:612394
166929	SGMS2	HP:0000938	Osteopenia	-	OMIM:126550
166929	SGMS2	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
166929	SGMS2	HP:0000286	Epicanthus	1/7	OMIM:615777
166929	SGMS2	HP:0000280	Coarse facial features	2/7	OMIM:615777
166929	SGMS2	HP:0000272	Malar flattening	1/1	OMIM:612394
166929	SGMS2	HP:0007773	Vitreoretinopathy	-	OMIM:259770
166929	SGMS2	HP:0002827	Hip dislocation	3/7	OMIM:615777
166929	SGMS2	HP:0002808	Kyphosis	1/5	OMIM:259770
166929	SGMS2	HP:0000252	Microcephaly	-	OMIM:259770
166929	SGMS2	HP:0000252	Microcephaly	-	OMIM:615777
166929	SGMS2	HP:0001552	Barrel-shaped chest	-	OMIM:259770
166929	SGMS2	HP:0002857	Genu valgum	-	OMIM:131300
166929	SGMS2	HP:0001533	Slender build	-	OMIM:131300
166929	SGMS2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
166929	SGMS2	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
166929	SGMS2	HP:0007807	Optic nerve compression	-	OMIM:131300
166929	SGMS2	HP:0012368	Flat face	7/7	OMIM:615777
166929	SGMS2	HP:0012368	Flat face	1/1	OMIM:612394
166929	SGMS2	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
166929	SGMS2	HP:0007875	Congenital blindness	4/5	OMIM:259770
166929	SGMS2	HP:0007862	Retinal calcification	1/5	OMIM:259770
166929	SGMS2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
166929	SGMS2	HP:0000365	Hearing impairment	10/67	OMIM:131300
166929	SGMS2	HP:0000369	Low-set ears	2/2	OMIM:612394
166929	SGMS2	HP:0000343	Long philtrum	1/7	OMIM:615777
166929	SGMS2	HP:0011001	Increased bone mineral density	-	OMIM:131300
166929	SGMS2	HP:0002982	Tibial bowing	1/5	OMIM:259770
166929	SGMS2	HP:0002980	Femoral bowing	HP:0040284	OMIM:126550
166929	SGMS2	HP:0000311	Round face	2/7	OMIM:615777
166929	SGMS2	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
166929	SGMS2	HP:0001629	Ventricular septal defect	-	OMIM:259770
166929	SGMS2	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
166929	SGMS2	HP:0002970	Genu varum	-	OMIM:615777
166929	SGMS2	HP:0000307	Pointed chin	1/2	OMIM:612394
166929	SGMS2	HP:0000303	Mandibular prognathia	-	OMIM:131300
166929	SGMS2	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
166929	SGMS2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
166929	SGMS2	HP:0000463	Anteverted nares	1/1	OMIM:612394
166929	SGMS2	HP:0000470	Short neck	1/7	OMIM:615777
166929	SGMS2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
166929	SGMS2	HP:0001763	Pes planus	1/7	OMIM:615777
166929	SGMS2	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
166929	SGMS2	HP:0000410	Mixed hearing impairment	HP:0040284	OMIM:126550
166929	SGMS2	HP:0000518	Cataract	1/5	OMIM:259770
166929	SGMS2	HP:0000518	Cataract	1/1	OMIM:612394
166929	SGMS2	HP:0001840	Metatarsus adductus	-	OMIM:615777
166929	SGMS2	HP:0000520	Proptosis	2/4	OMIM:131300
166929	SGMS2	HP:0000520	Proptosis	7/7	OMIM:615777
166929	SGMS2	HP:0000592	Blue sclerae	2/7	OMIM:615777
166929	SGMS2	HP:0000586	Shallow orbits	1/1	OMIM:612394
166929	SGMS2	HP:0000568	Microphthalmia	1/5	OMIM:259770
166929	SGMS2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
166929	SGMS2	HP:0012514	Lower limb pain	4/4	OMIM:131300
166929	SGMS2	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
166929	SGMS2	HP:0000545	Myopia	1/1	OMIM:612394
167691	LCA5	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
167691	LCA5	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
167691	LCA5	HP:0001103	Abnormal macular morphology	HP:0040282	ORPHA:364055
167691	LCA5	HP:0001116	Macular coloboma	HP:0040283	ORPHA:364055
167691	LCA5	HP:0001270	Motor delay	HP:0040283	ORPHA:65
167691	LCA5	HP:0001250	Seizure	HP:0040282	ORPHA:65
167691	LCA5	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
167691	LCA5	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
167691	LCA5	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
167691	LCA5	HP:0000007	Autosomal recessive inheritance	-	OMIM:604537
167691	LCA5	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
167691	LCA5	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
167691	LCA5	HP:0001483	Eye poking	HP:0040282	ORPHA:65
167691	LCA5	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
167691	LCA5	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
167691	LCA5	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:364055
167691	LCA5	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
167691	LCA5	HP:0002172	Postural instability	HP:0040283	ORPHA:364055
167691	LCA5	HP:0003593	Infantile onset	-	OMIM:604537
167691	LCA5	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
167691	LCA5	HP:0002317	Unsteady gait	HP:0040283	ORPHA:364055
167691	LCA5	HP:0008499	High hypermetropia	-	OMIM:604537
167691	LCA5	HP:0003621	Juvenile onset	8/19	OMIM:180100
167691	LCA5	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
167691	LCA5	HP:0000639	Nystagmus	-	OMIM:604537
167691	LCA5	HP:0000639	Nystagmus	HP:0040282	ORPHA:364055
167691	LCA5	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
167691	LCA5	HP:0000613	Photophobia	HP:0040282	ORPHA:65
167691	LCA5	HP:0000613	Photophobia	HP:0040283	ORPHA:364055
167691	LCA5	HP:0000622	Blurred vision	HP:0040283	ORPHA:364055
167691	LCA5	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
167691	LCA5	HP:0011342	Mild global developmental delay	HP:0040283	ORPHA:364055
167691	LCA5	HP:0000662	Nyctalopia	HP:0040282	ORPHA:364055
167691	LCA5	HP:0000662	Nyctalopia	26/28	OMIM:180100
167691	LCA5	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
167691	LCA5	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
167691	LCA5	HP:0011488	Abnormal corneal endothelium morphology	HP:0040283	ORPHA:364055
167691	LCA5	HP:0011484	Posterior synechiae of the anterior chamber	HP:0040283	ORPHA:364055
167691	LCA5	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
167691	LCA5	HP:0011463	Childhood onset	3/19	OMIM:180100
167691	LCA5	HP:0011462	Young adult onset	8/19	OMIM:180100
167691	LCA5	HP:0007722	Retinal pigment epithelial atrophy	HP:0040283	ORPHA:364055
167691	LCA5	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
167691	LCA5	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:364055
167691	LCA5	HP:0007793	Granular macular appearance	HP:0040283	ORPHA:364055
167691	LCA5	HP:0007787	Posterior subcapsular cataract	HP:0040283	ORPHA:364055
167691	LCA5	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
167691	LCA5	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:364055
167691	LCA5	HP:0007695	Abnormal pupillary light reflex	HP:0040282	ORPHA:364055
167691	LCA5	HP:0012230	Rhegmatogenous retinal detachment	HP:0040284	ORPHA:364055
167691	LCA5	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:364055
167691	LCA5	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
167691	LCA5	HP:0007814	Retinal pigment epithelial mottling	HP:0040282	ORPHA:364055
167691	LCA5	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
167691	LCA5	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:364055
167691	LCA5	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
167691	LCA5	HP:0012434	Delayed early-childhood social milestone development	HP:0040283	ORPHA:364055
167691	LCA5	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
167691	LCA5	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:364055
167691	LCA5	HP:0000518	Cataract	HP:0040282	ORPHA:65
167691	LCA5	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
167691	LCA5	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
167691	LCA5	HP:0000505	Visual impairment	-	OMIM:604537
167691	LCA5	HP:0000505	Visual impairment	HP:0040282	ORPHA:364055
167691	LCA5	HP:0000575	Scotoma	5/18	OMIM:180100
167691	LCA5	HP:0000577	Exotropia	HP:0040283	ORPHA:364055
167691	LCA5	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
167691	LCA5	HP:0000572	Visual loss	-	OMIM:604537
167691	LCA5	HP:0000541	Retinal detachment	HP:0040283	ORPHA:364055
167691	LCA5	HP:0000540	Hypermetropia	-	OMIM:604537
167691	LCA5	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
167691	LCA5	HP:0000533	Chorioretinal atrophy	HP:0040283	ORPHA:364055
167691	LCA5	HP:0000550	Undetectable electroretinogram	-	OMIM:604537
167691	LCA5	HP:0000550	Undetectable electroretinogram	HP:0040282	ORPHA:364055
167691	LCA5	HP:0000551	Color vision defect	HP:0040282	ORPHA:364055
167691	LCA5	HP:0000546	Retinal degeneration	HP:0040282	ORPHA:364055
167691	LCA5	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:364055
167691	LCA5	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
167691	LCA5	HP:0000543	Optic disc pallor	1/1	OMIM:180100
167691	LCA5	HP:0000545	Myopia	-	OMIM:180100
167691	LCA5	HP:0000545	Myopia	HP:0040283	ORPHA:364055
168507	PKD1L1	HP:0012020	Right aortic arch	1/3	OMIM:617205
168507	PKD1L1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617205
168507	PKD1L1	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
168507	PKD1L1	HP:0003363	Abdominal situs inversus	3/3	OMIM:617205
168507	PKD1L1	HP:0003577	Congenital onset	3/3	OMIM:617205
168507	PKD1L1	HP:0004935	Pulmonary artery atresia	2/3	OMIM:617205
168507	PKD1L1	HP:0031834	Aortopulmonary collateral arteries	1/3	OMIM:617205
168507	PKD1L1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
168507	PKD1L1	HP:0004383	Hypoplastic left heart	3/3	OMIM:617205
168507	PKD1L1	HP:0004467	Preauricular pit	-	OMIM:187500
168507	PKD1L1	HP:0011539	Atrial situs ambiguous	1/3	OMIM:617205
168507	PKD1L1	HP:0011538	Atrial situs inversus	1/3	OMIM:617205
168507	PKD1L1	HP:0011540	Congenitally corrected transposition of the great arteries	1/3	OMIM:617205
168507	PKD1L1	HP:0011579	Unbalanced atrioventricular canal defect	2/3	OMIM:617205
168507	PKD1L1	HP:0000337	Broad forehead	-	OMIM:187500
168507	PKD1L1	HP:0001651	Dextrocardia	1/2	OMIM:617205
168507	PKD1L1	HP:0001629	Ventricular septal defect	3/3	OMIM:617205
168507	PKD1L1	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
168507	PKD1L1	HP:0001719	Double outlet right ventricle	1/3	OMIM:617205
168507	PKD1L1	HP:0000520	Proptosis	-	OMIM:187500
168667	BMPER	HP:0002475	Myelomeningocele	HP:0040281	ORPHA:66637
168667	BMPER	HP:0008643	Nephroblastomatosis	-	OMIM:608022
168667	BMPER	HP:0010880	Increased nuchal translucency	2/3	OMIM:608022
168667	BMPER	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
168667	BMPER	HP:0001293	Cranial nerve compression	-	OMIM:131300
168667	BMPER	HP:0001290	Generalized hypotonia	-	OMIM:608022
168667	BMPER	HP:0001252	Hypotonia	-	OMIM:608022
168667	BMPER	HP:0001252	Hypotonia	2/7	OMIM:615777
168667	BMPER	HP:0001249	Intellectual disability	5/7	OMIM:615777
168667	BMPER	HP:0001263	Global developmental delay	-	OMIM:608022
168667	BMPER	HP:0001263	Global developmental delay	-	OMIM:615777
168667	BMPER	HP:0100880	Nephrogenic rest	-	OMIM:608022
168667	BMPER	HP:0031096	Delayed vertebral ossification	3/3	OMIM:608022
168667	BMPER	HP:0002515	Waddling gait	54/102	OMIM:131300
168667	BMPER	HP:0000085	Horseshoe kidney	1/3	OMIM:608022
168667	BMPER	HP:0001382	Joint hypermobility	-	OMIM:615777
168667	BMPER	HP:0000023	Inguinal hernia	-	OMIM:608022
168667	BMPER	HP:0002694	Sclerosis of skull base	-	OMIM:131300
168667	BMPER	HP:0008897	Postnatal growth retardation	-	OMIM:615777
168667	BMPER	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
168667	BMPER	HP:0001324	Muscle weakness	40/96	OMIM:131300
168667	BMPER	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
168667	BMPER	HP:0000007	Autosomal recessive inheritance	-	OMIM:608022
168667	BMPER	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
168667	BMPER	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
168667	BMPER	HP:0002650	Scoliosis	12/14	OMIM:131300
168667	BMPER	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
168667	BMPER	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
168667	BMPER	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
168667	BMPER	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
168667	BMPER	HP:0000175	Cleft palate	HP:0040283	ORPHA:66637
168667	BMPER	HP:0000175	Cleft palate	-	OMIM:608022
168667	BMPER	HP:0000175	Cleft palate	2/7	OMIM:615777
168667	BMPER	HP:0002779	Tracheomalacia	-	OMIM:608022
168667	BMPER	HP:0000105	Enlarged kidney	-	OMIM:608022
168667	BMPER	HP:0002089	Pulmonary hypoplasia	-	OMIM:608022
168667	BMPER	HP:0002098	Respiratory distress	HP:0040281	ORPHA:66637
168667	BMPER	HP:0002098	Respiratory distress	-	OMIM:608022
168667	BMPER	HP:0002093	Respiratory insufficiency	-	OMIM:608022
168667	BMPER	HP:0003388	Easy fatigability	36/76	OMIM:131300
168667	BMPER	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
168667	BMPER	HP:0002126	Polymicrogyria	-	OMIM:608022
168667	BMPER	HP:0003422	Vertebral segmentation defect	-	OMIM:608022
168667	BMPER	HP:0200133	Lumbosacral meningocele	-	OMIM:608022
168667	BMPER	HP:0100752	Abnormal liver lobulation	-	OMIM:608022
168667	BMPER	HP:0003510	Severe short stature	7/7	OMIM:615777
168667	BMPER	HP:0003521	Disproportionate short-trunk short stature	-	OMIM:608022
168667	BMPER	HP:0002315	Headache	-	OMIM:131300
168667	BMPER	HP:0004976	Knee dislocation	6/7	OMIM:615777
168667	BMPER	HP:0100625	Enlarged thorax	HP:0040281	ORPHA:66637
168667	BMPER	HP:0009803	Short phalanx of finger	-	OMIM:615777
168667	BMPER	HP:0009763	Limb pain	63/92	OMIM:131300
168667	BMPER	HP:0008435	Absent in utero ossification of vertebral bodies	2/2	OMIM:608022
168667	BMPER	HP:0003621	Juvenile onset	-	OMIM:131300
168667	BMPER	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
168667	BMPER	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
168667	BMPER	HP:0005562	Multiple renal cysts	HP:0040281	ORPHA:66637
168667	BMPER	HP:6001056	Out-toeing	-	OMIM:131300
168667	BMPER	HP:0000651	Diplopia	-	OMIM:131300
168667	BMPER	HP:0001956	Truncal obesity	2/7	OMIM:615777
168667	BMPER	HP:0001903	Anemia	HP:0040283	OMIM:131300
168667	BMPER	HP:0010049	Short metacarpal	-	OMIM:615777
168667	BMPER	HP:0000678	Dental crowding	-	OMIM:615777
168667	BMPER	HP:0000670	Carious teeth	-	OMIM:131300
168667	BMPER	HP:0011304	Broad thumb	2/7	OMIM:615777
168667	BMPER	HP:0000668	Hypodontia	-	OMIM:615777
168667	BMPER	HP:0000664	Synophrys	-	OMIM:615777
168667	BMPER	HP:0004331	Decreased skull ossification	3/3	OMIM:608022
168667	BMPER	HP:0005640	Abnormal vertebral segmentation and fusion	HP:0040281	ORPHA:66637
168667	BMPER	HP:0000800	Cystic renal dysplasia	-	OMIM:608022
168667	BMPER	HP:0004396	Poor appetite	-	OMIM:131300
168667	BMPER	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
168667	BMPER	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
168667	BMPER	HP:0034199	Late first trimester onset	2/3	OMIM:608022
168667	BMPER	HP:0034198	Second trimester onset	1/3	OMIM:608022
168667	BMPER	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
168667	BMPER	HP:0003026	Short long bone	7/7	OMIM:615777
168667	BMPER	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
168667	BMPER	HP:0000767	Pectus excavatum	2/7	OMIM:615777
168667	BMPER	HP:0000768	Pectus carinatum	1/7	OMIM:615777
168667	BMPER	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
168667	BMPER	HP:0000750	Delayed speech and language development	-	OMIM:615777
168667	BMPER	HP:0011461	Fetal onset	7/7	OMIM:615777
168667	BMPER	HP:0000774	Narrow chest	2/7	OMIM:615777
168667	BMPER	HP:0003196	Short nose	-	OMIM:608022
168667	BMPER	HP:0000926	Platyspondyly	1/7	OMIM:615777
168667	BMPER	HP:0000921	Missing ribs	HP:0040281	ORPHA:66637
168667	BMPER	HP:0000921	Missing ribs	-	OMIM:608022
168667	BMPER	HP:0003180	Flat acetabular roof	-	OMIM:615777
168667	BMPER	HP:0004482	Relative macrocephaly	-	OMIM:615777
168667	BMPER	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
168667	BMPER	HP:0000823	Delayed puberty	-	OMIM:131300
168667	BMPER	HP:0000894	Short clavicles	-	OMIM:615777
168667	BMPER	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
168667	BMPER	HP:0003275	Narrow pelvis bone	HP:0040281	ORPHA:66637
168667	BMPER	HP:0003275	Narrow pelvis bone	-	OMIM:608022
168667	BMPER	HP:0004599	Absent or minimally ossified vertebral bodies	HP:0040281	ORPHA:66637
168667	BMPER	HP:0010306	Short thorax	HP:0040281	ORPHA:66637
168667	BMPER	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
168667	BMPER	HP:0000286	Epicanthus	-	OMIM:608022
168667	BMPER	HP:0000286	Epicanthus	1/7	OMIM:615777
168667	BMPER	HP:0000280	Coarse facial features	2/7	OMIM:615777
168667	BMPER	HP:0001591	Bell-shaped thorax	-	OMIM:608022
168667	BMPER	HP:0002827	Hip dislocation	3/7	OMIM:615777
168667	BMPER	HP:0000239	Large fontanelles	-	OMIM:608022
168667	BMPER	HP:0000252	Microcephaly	-	OMIM:615777
168667	BMPER	HP:0001562	Oligohydramnios	-	OMIM:608022
168667	BMPER	HP:0002857	Genu valgum	-	OMIM:131300
168667	BMPER	HP:0001538	Protuberant abdomen	-	OMIM:608022
168667	BMPER	HP:0001533	Slender build	-	OMIM:131300
168667	BMPER	HP:0001511	Intrauterine growth retardation	-	OMIM:608022
168667	BMPER	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
168667	BMPER	HP:0007807	Optic nerve compression	-	OMIM:131300
168667	BMPER	HP:0012368	Flat face	7/7	OMIM:615777
168667	BMPER	HP:0005257	Thoracic hypoplasia	-	OMIM:608022
168667	BMPER	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
168667	BMPER	HP:0000365	Hearing impairment	10/67	OMIM:131300
168667	BMPER	HP:0000369	Low-set ears	-	OMIM:608022
168667	BMPER	HP:0000343	Long philtrum	1/7	OMIM:615777
168667	BMPER	HP:0011001	Increased bone mineral density	-	OMIM:131300
168667	BMPER	HP:0000347	Micrognathia	-	OMIM:608022
168667	BMPER	HP:0000316	Hypertelorism	-	OMIM:608022
168667	BMPER	HP:0000311	Round face	2/7	OMIM:615777
168667	BMPER	HP:0002970	Genu varum	-	OMIM:615777
168667	BMPER	HP:0000303	Mandibular prognathia	-	OMIM:131300
168667	BMPER	HP:0006615	Absent in utero rib ossification	-	OMIM:608022
168667	BMPER	HP:0005280	Depressed nasal bridge	-	OMIM:608022
168667	BMPER	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
168667	BMPER	HP:0000457	Depressed nasal ridge	-	OMIM:608022
168667	BMPER	HP:0000470	Short neck	HP:0040281	ORPHA:66637
168667	BMPER	HP:0000470	Short neck	-	OMIM:608022
168667	BMPER	HP:0000470	Short neck	1/7	OMIM:615777
168667	BMPER	HP:0000465	Webbed neck	-	OMIM:608022
168667	BMPER	HP:0001769	Broad foot	HP:0040283	OMIM:615777
168667	BMPER	HP:0001763	Pes planus	1/7	OMIM:615777
168667	BMPER	HP:0001765	Hammertoe	-	OMIM:608022
168667	BMPER	HP:0001762	Talipes equinovarus	1/3	OMIM:608022
168667	BMPER	HP:0025706	Absent fetal nasal bone	1/3	OMIM:608022
168667	BMPER	HP:0030290	Unossified sacrum	-	OMIM:608022
168667	BMPER	HP:0001840	Metatarsus adductus	-	OMIM:615777
168667	BMPER	HP:0000520	Proptosis	2/4	OMIM:131300
168667	BMPER	HP:0000520	Proptosis	7/7	OMIM:615777
168667	BMPER	HP:0001804	Hypoplastic fingernail	-	OMIM:608022
168667	BMPER	HP:0000592	Blue sclerae	2/7	OMIM:615777
168667	BMPER	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
168667	BMPER	HP:0012514	Lower limb pain	4/4	OMIM:131300
169026	SLC30A8	HP:0000006	Autosomal dominant inheritance	-	OMIM:125853
169026	SLC30A8	HP:0005978	Type II diabetes mellitus	-	OMIM:125853
169026	SLC30A8	HP:0003584	Late onset	-	OMIM:125853
169026	SLC30A8	HP:0031819	Increased waist to hip ratio	-	OMIM:125853
169026	SLC30A8	HP:0000855	Insulin resistance	-	OMIM:125853
169522	KCNV2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
169522	KCNV2	HP:0007401	Macular atrophy	HP:0040283	OMIM:610356
169522	KCNV2	HP:0000007	Autosomal recessive inheritance	-	OMIM:610356
169522	KCNV2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
169522	KCNV2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
169522	KCNV2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
169522	KCNV2	HP:0007663	Reduced visual acuity	-	OMIM:610356
169522	KCNV2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
169522	KCNV2	HP:0003621	Juvenile onset	8/19	OMIM:180100
169522	KCNV2	HP:0000613	Photophobia	-	OMIM:610356
169522	KCNV2	HP:0000662	Nyctalopia	-	OMIM:610356
169522	KCNV2	HP:0000662	Nyctalopia	26/28	OMIM:180100
169522	KCNV2	HP:0000666	Horizontal nystagmus	-	OMIM:610356
169522	KCNV2	HP:0011463	Childhood onset	3/19	OMIM:180100
169522	KCNV2	HP:0011462	Young adult onset	8/19	OMIM:180100
169522	KCNV2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
169522	KCNV2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
169522	KCNV2	HP:0000483	Astigmatism	-	OMIM:610356
169522	KCNV2	HP:0000486	Strabismus	HP:0040283	OMIM:610356
169522	KCNV2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
169522	KCNV2	HP:0000575	Scotoma	5/18	OMIM:180100
169522	KCNV2	HP:0000575	Scotoma	-	OMIM:610356
169522	KCNV2	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:610356
169522	KCNV2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
169522	KCNV2	HP:0000545	Myopia	-	OMIM:180100
169522	KCNV2	HP:0000545	Myopia	-	OMIM:610356
169792	GLIS3	HP:0001256	Intellectual disability, mild	2/6	OMIM:610199
169792	GLIS3	HP:0002594	Pancreatic hypoplasia	HP:0040283	OMIM:610199
169792	GLIS3	HP:0001263	Global developmental delay	-	OMIM:610199
169792	GLIS3	HP:0025379	Anti-thyroid peroxidase antibody positivity	0/4	OMIM:610199
169792	GLIS3	HP:0001396	Cholestasis	-	OMIM:610199
169792	GLIS3	HP:0001395	Hepatic fibrosis	3/6	OMIM:610199
169792	GLIS3	HP:0000007	Autosomal recessive inheritance	-	OMIM:610199
169792	GLIS3	HP:0025484	Increased circulating thyroglobulin concentration	3/3	OMIM:610199
169792	GLIS3	HP:0012115	Hepatitis	-	OMIM:610199
169792	GLIS3	HP:0000113	Polycystic kidney dysplasia	-	OMIM:610199
169792	GLIS3	HP:0000107	Renal cyst	2/6	OMIM:610199
169792	GLIS3	HP:0001409	Portal hypertension	12/20	OMIM:610199
169792	GLIS3	HP:0002719	Recurrent infections	HP:0040283	OMIM:610199
169792	GLIS3	HP:0002036	Hiatus hernia	HP:0040283	OMIM:610199
169792	GLIS3	HP:0002240	Hepatomegaly	-	OMIM:610199
169792	GLIS3	HP:0001087	Developmental glaucoma	-	OMIM:610199
169792	GLIS3	HP:0003623	Neonatal onset	6/6	OMIM:610199
169792	GLIS3	HP:0004442	Sagittal craniosynostosis	HP:0040283	OMIM:610199
169792	GLIS3	HP:0000851	Congenital hypothyroidism	6/6	OMIM:610199
169792	GLIS3	HP:0000819	Diabetes mellitus	6/6	OMIM:610199
169792	GLIS3	HP:0000938	Osteopenia	HP:0040283	OMIM:610199
169792	GLIS3	HP:0000286	Epicanthus	-	OMIM:610199
169792	GLIS3	HP:0000260	Wide anterior fontanel	HP:0040283	OMIM:610199
169792	GLIS3	HP:0000219	Thin upper lip vermilion	-	OMIM:610199
169792	GLIS3	HP:0001537	Umbilical hernia	HP:0040283	OMIM:610199
169792	GLIS3	HP:0001511	Intrauterine growth retardation	6/6	OMIM:610199
169792	GLIS3	HP:0031507	Decreased circulating T4 concentration	3/3	OMIM:610199
169792	GLIS3	HP:0002944	Thoracolumbar scoliosis	HP:0040283	OMIM:610199
169792	GLIS3	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	6/6	OMIM:610199
169792	GLIS3	HP:0000369	Low-set ears	-	OMIM:610199
169792	GLIS3	HP:0000343	Long philtrum	-	OMIM:610199
169792	GLIS3	HP:0007906	Ocular hypertension	2/4	OMIM:610199
169792	GLIS3	HP:0000407	Sensorineural hearing impairment	HP:0040283	OMIM:610199
169792	GLIS3	HP:0001737	Pancreatic cysts	HP:0040283	OMIM:610199
169792	GLIS3	HP:0005280	Depressed nasal bridge	-	OMIM:610199
169792	GLIS3	HP:0000453	Choanal atresia	HP:0040283	OMIM:610199
169792	GLIS3	HP:0001744	Splenomegaly	HP:0040283	OMIM:610199
169792	GLIS3	HP:0030423	Splenic cyst	HP:0040283	OMIM:610199
169792	GLIS3	HP:0000557	Buphthalmos	4/6	OMIM:610199
170302	ARX	HP:0001182	Tapered finger	-	OMIM:300004
170302	ARX	HP:0002451	Limb dystonia	HP:0040281	ORPHA:94083
170302	ARX	HP:0002451	Limb dystonia	-	OMIM:309510
170302	ARX	HP:0002445	Tetraplegia	-	OMIM:300004
170302	ARX	HP:0002445	Tetraplegia	HP:0040283	ORPHA:2508
170302	ARX	HP:0009921	Duane anomaly	-	OMIM:300215
170302	ARX	HP:0007256	Abnormal pyramidal sign	1/2	OMIM:308350
170302	ARX	HP:0010864	Intellectual disability, severe	-	OMIM:300004
170302	ARX	HP:0010864	Intellectual disability, severe	3/3	OMIM:300419
170302	ARX	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2508
170302	ARX	HP:0010851	EEG with burst suppression	4/4	OMIM:308350
170302	ARX	HP:0010851	EEG with burst suppression	HP:0040282	ORPHA:1934
170302	ARX	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:1934
170302	ARX	HP:0002421	Poor head control	1/1	OMIM:308350
170302	ARX	HP:0002421	Poor head control	HP:0040282	ORPHA:1934
170302	ARX	HP:0001290	Generalized hypotonia	-	OMIM:300215
170302	ARX	HP:0001276	Hypertonia	1/1	OMIM:308350
170302	ARX	HP:0001276	Hypertonia	HP:0040281	ORPHA:3175
170302	ARX	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:1934
170302	ARX	HP:0001274	Agenesis of corpus callosum	20/20	OMIM:300004
170302	ARX	HP:0001274	Agenesis of corpus callosum	-	OMIM:300215
170302	ARX	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:452
170302	ARX	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:2508
170302	ARX	HP:0001288	Gait disturbance	HP:0040282	ORPHA:94083
170302	ARX	HP:0001285	Spastic tetraparesis	1/2	OMIM:308350
170302	ARX	HP:0001254	Lethargy	HP:0040282	ORPHA:1934
170302	ARX	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:94083
170302	ARX	HP:0001250	Seizure	12/40	OMIM:309510
170302	ARX	HP:0001250	Seizure	HP:0040280	ORPHA:1934
170302	ARX	HP:0001250	Seizure	-	OMIM:300004
170302	ARX	HP:0001250	Seizure	HP:0040283	OMIM:300419
170302	ARX	HP:0001250	Seizure	HP:0040281	ORPHA:2508
170302	ARX	HP:0001250	Seizure	HP:0040283	ORPHA:94083
170302	ARX	HP:0001250	Seizure	HP:0040281	ORPHA:452
170302	ARX	HP:0001250	Seizure	-	OMIM:300215
170302	ARX	HP:0001252	Hypotonia	1/4	OMIM:300419
170302	ARX	HP:0001252	Hypotonia	HP:0040282	ORPHA:452
170302	ARX	HP:0001252	Hypotonia	-	OMIM:300215
170302	ARX	HP:0001249	Intellectual disability	HP:0040281	ORPHA:3175
170302	ARX	HP:0001249	Intellectual disability	38/38	OMIM:309510
170302	ARX	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1934
170302	ARX	HP:0001249	Intellectual disability	2/2	OMIM:308350
170302	ARX	HP:0001249	Intellectual disability	14/14	OMIM:300419
170302	ARX	HP:0001249	Intellectual disability	HP:0040281	ORPHA:94083
170302	ARX	HP:0001249	Intellectual disability	HP:0040281	ORPHA:452
170302	ARX	HP:0001266	Choreoathetosis	-	OMIM:308350
170302	ARX	HP:0001266	Choreoathetosis	HP:0040283	ORPHA:1934
170302	ARX	HP:0001260	Dysarthria	HP:0040282	ORPHA:94083
170302	ARX	HP:0001260	Dysarthria	15/28	OMIM:309510
170302	ARX	HP:0001263	Global developmental delay	HP:0040281	ORPHA:1934
170302	ARX	HP:0001263	Global developmental delay	3/3	OMIM:308350
170302	ARX	HP:0001263	Global developmental delay	-	OMIM:300004
170302	ARX	HP:0001263	Global developmental delay	HP:0040281	ORPHA:452
170302	ARX	HP:0001257	Spasticity	HP:0040283	ORPHA:1934
170302	ARX	HP:0001257	Spasticity	HP:0040283	ORPHA:452
170302	ARX	HP:0001257	Spasticity	HP:0040281	ORPHA:3175
170302	ARX	HP:0001257	Spasticity	-	OMIM:300215
170302	ARX	HP:0001257	Spasticity	HP:0040281	ORPHA:2508
170302	ARX	HP:0008734	Decreased testicular size	-	OMIM:300215
170302	ARX	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:452
170302	ARX	HP:0008715	Testicular dysgenesis	3/3	OMIM:300419
170302	ARX	HP:0007380	Facial telangiectasia	HP:0040283	ORPHA:94083
170302	ARX	HP:0007359	Focal-onset seizure	2/2	OMIM:308350
170302	ARX	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:1934
170302	ARX	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2508
170302	ARX	HP:0002521	Hypsarrhythmia	HP:0040281	ORPHA:697160
170302	ARX	HP:0002521	Hypsarrhythmia	1/1	OMIM:308350
170302	ARX	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:1934
170302	ARX	HP:0002510	Spastic tetraplegia	-	OMIM:300004
170302	ARX	HP:0002506	Diffuse cerebral atrophy	HP:0040283	ORPHA:1934
170302	ARX	HP:0000062	Ambiguous genitalia	HP:0040281	ORPHA:452
170302	ARX	HP:0000062	Ambiguous genitalia	-	OMIM:300215
170302	ARX	HP:0025357	Erratic myoclonus	1/2	OMIM:308350
170302	ARX	HP:0000070	Ureterocele	HP:0040284	ORPHA:1934
170302	ARX	HP:0001371	Flexion contracture	-	OMIM:309510
170302	ARX	HP:0000054	Micropenis	-	OMIM:300215
170302	ARX	HP:0000054	Micropenis	HP:0040284	ORPHA:1934
170302	ARX	HP:0000054	Micropenis	2/4	OMIM:308350
170302	ARX	HP:0000053	Macroorchidism	HP:0040282	ORPHA:94083
170302	ARX	HP:0000047	Hypospadias	-	OMIM:300004
170302	ARX	HP:0000047	Hypospadias	HP:0040283	ORPHA:2508
170302	ARX	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2508
170302	ARX	HP:0000020	Urinary incontinence	2/4	OMIM:300419
170302	ARX	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:1934
170302	ARX	HP:0001347	Hyperreflexia	-	OMIM:308350
170302	ARX	HP:0001347	Hyperreflexia	-	OMIM:300215
170302	ARX	HP:0001357	Plagiocephaly	1/1	OMIM:308350
170302	ARX	HP:0000028	Cryptorchidism	HP:0040281	ORPHA:452
170302	ARX	HP:0000028	Cryptorchidism	-	OMIM:300004
170302	ARX	HP:0008872	Feeding difficulties in infancy	-	OMIM:300215
170302	ARX	HP:0001332	Dystonia	HP:0040284	ORPHA:1934
170302	ARX	HP:0001332	Dystonia	-	OMIM:308350
170302	ARX	HP:0001328	Specific learning disability	-	OMIM:300215
170302	ARX	HP:0001339	Lissencephaly	-	OMIM:300215
170302	ARX	HP:0001337	Tremor	HP:0040283	ORPHA:1934
170302	ARX	HP:0001336	Myoclonus	HP:0040283	ORPHA:1934
170302	ARX	HP:0001336	Myoclonus	HP:0040281	ORPHA:697160
170302	ARX	HP:0001302	Pachygyria	HP:0040281	ORPHA:452
170302	ARX	HP:0001302	Pachygyria	-	OMIM:300215
170302	ARX	HP:0001302	Pachygyria	HP:0040283	ORPHA:1934
170302	ARX	HP:0002650	Scoliosis	HP:0040282	ORPHA:2508
170302	ARX	HP:0002650	Scoliosis	-	OMIM:300004
170302	ARX	HP:0001319	Neonatal hypotonia	-	OMIM:300004
170302	ARX	HP:0000187	Broad alveolar ridges	-	OMIM:300004
170302	ARX	HP:0000175	Cleft palate	HP:0040284	ORPHA:1934
170302	ARX	HP:0008947	Floppy infant	HP:0040282	ORPHA:1934
170302	ARX	HP:0008936	Axial hypotonia	-	OMIM:308350
170302	ARX	HP:0000110	Renal dysplasia	-	OMIM:300004
170302	ARX	HP:0000110	Renal dysplasia	HP:0040283	ORPHA:2508
170302	ARX	HP:0000110	Renal dysplasia	HP:0040284	ORPHA:1934
170302	ARX	HP:0001419	X-linked recessive inheritance	-	OMIM:300419
170302	ARX	HP:0001419	X-linked recessive inheritance	-	OMIM:308350
170302	ARX	HP:0001419	X-linked recessive inheritance	-	OMIM:309510
170302	ARX	HP:0001417	X-linked inheritance	-	OMIM:300004
170302	ARX	HP:0001417	X-linked inheritance	-	OMIM:300215
170302	ARX	HP:0002024	Malabsorption	HP:0040282	ORPHA:452
170302	ARX	HP:0002033	Poor suck	HP:0040282	ORPHA:1934
170302	ARX	HP:0002014	Diarrhea	-	OMIM:300215
170302	ARX	HP:0002015	Dysphagia	HP:0040282	ORPHA:1934
170302	ARX	HP:0002015	Dysphagia	-	OMIM:308350
170302	ARX	HP:0002094	Dyspnea	-	OMIM:308350
170302	ARX	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:1934
170302	ARX	HP:0002063	Rigidity	HP:0040281	ORPHA:3175
170302	ARX	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:94083
170302	ARX	HP:0002061	Lower limb spasticity	-	OMIM:309510
170302	ARX	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1934
170302	ARX	HP:0003487	Babinski sign	1/4	OMIM:300419
170302	ARX	HP:0002123	Generalized myoclonic seizure	-	OMIM:308350
170302	ARX	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:1934
170302	ARX	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:2508
170302	ARX	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:1934
170302	ARX	HP:0002119	Ventriculomegaly	-	OMIM:308350
170302	ARX	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:452
170302	ARX	HP:0002119	Ventriculomegaly	-	OMIM:300215
170302	ARX	HP:0002133	Status epilepticus	HP:0040281	ORPHA:3175
170302	ARX	HP:0002131	Episodic ataxia	HP:0040283	ORPHA:1934
170302	ARX	HP:0002188	Delayed CNS myelination	1/1	OMIM:308350
170302	ARX	HP:0002171	Gliosis	-	OMIM:300215
170302	ARX	HP:0003577	Congenital onset	1/1	OMIM:308350
170302	ARX	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:452
170302	ARX	HP:0100716	Self-injurious behavior	HP:0040283	ORPHA:1934
170302	ARX	HP:0003552	Muscle stiffness	HP:0040281	ORPHA:3175
170302	ARX	HP:0002230	Generalized hirsutism	HP:0040282	ORPHA:2508
170302	ARX	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:1934
170302	ARX	HP:0010720	Abnormal hair pattern	HP:0040282	ORPHA:2508
170302	ARX	HP:0200134	Epileptic encephalopathy	2/2	OMIM:308350
170302	ARX	HP:0200134	Epileptic encephalopathy	HP:0040281	ORPHA:1934
170302	ARX	HP:0002283	Global brain atrophy	2/2	OMIM:308350
170302	ARX	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:1934
170302	ARX	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:1934
170302	ARX	HP:0002376	Developmental regression	HP:0040283	ORPHA:1934
170302	ARX	HP:0002376	Developmental regression	HP:0040281	ORPHA:697160
170302	ARX	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283	ORPHA:1934
170302	ARX	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:94083
170302	ARX	HP:0001007	Hirsutism	-	OMIM:300004
170302	ARX	HP:0002353	EEG abnormality	HP:0040282	ORPHA:1934
170302	ARX	HP:0002353	EEG abnormality	HP:0040283	ORPHA:94083
170302	ARX	HP:0002353	EEG abnormality	-	OMIM:309510
170302	ARX	HP:0007204	Diffuse white matter abnormalities	HP:0040283	ORPHA:1934
170302	ARX	HP:0100660	Dyskinesia	-	OMIM:308350
170302	ARX	HP:0100660	Dyskinesia	HP:0040283	ORPHA:1934
170302	ARX	HP:0010819	Atonic seizure	HP:0040283	ORPHA:1934
170302	ARX	HP:0010818	Generalized tonic seizure	HP:0040283	ORPHA:1934
170302	ARX	HP:0001090	Abnormally large globe	-	OMIM:300004
170302	ARX	HP:0002301	Hemiplegia	HP:0040281	ORPHA:3175
170302	ARX	HP:0003623	Neonatal onset	4/4	OMIM:308350
170302	ARX	HP:0002307	Drooling	1/4	OMIM:300419
170302	ARX	HP:0006887	Intellectual disability, progressive	-	OMIM:300004
170302	ARX	HP:0000639	Nystagmus	HP:0040282	ORPHA:2508
170302	ARX	HP:0000639	Nystagmus	-	OMIM:300004
170302	ARX	HP:0000637	Long palpebral fissure	HP:0040283	OMIM:300419
170302	ARX	HP:0000648	Optic atrophy	-	OMIM:300004
170302	ARX	HP:0000629	Periorbital fullness	HP:0040283	OMIM:300419
170302	ARX	HP:0011344	Severe global developmental delay	-	OMIM:300215
170302	ARX	HP:0011344	Severe global developmental delay	2/2	OMIM:308350
170302	ARX	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:2508
170302	ARX	HP:0011341	Long upper lip	-	OMIM:300215
170302	ARX	HP:0000664	Synophrys	-	OMIM:300004
170302	ARX	HP:0004322	Short stature	-	OMIM:300004
170302	ARX	HP:0004322	Short stature	HP:0040281	ORPHA:2508
170302	ARX	HP:0004373	Focal dystonia	21/34	OMIM:309510
170302	ARX	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1934
170302	ARX	HP:0012736	Profound global developmental delay	-	OMIM:300215
170302	ARX	HP:0000750	Delayed speech and language development	-	OMIM:309510
170302	ARX	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:94083
170302	ARX	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1934
170302	ARX	HP:0000708	Atypical behavior	8/28	OMIM:309510
170302	ARX	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:697160
170302	ARX	HP:0010174	Broad phalanx of the toes	HP:0040284	ORPHA:1934
170302	ARX	HP:0003121	Limb joint contracture	-	OMIM:300004
170302	ARX	HP:0000817	Reduced eye contact	1/1	OMIM:308350
170302	ARX	HP:0000826	Precocious puberty	HP:0040284	ORPHA:1934
170302	ARX	HP:0003272	Abnormal hip bone morphology	HP:0040282	ORPHA:2508
170302	ARX	HP:0000966	Hypohidrosis	HP:0040282	ORPHA:452
170302	ARX	HP:0009381	Short finger	HP:0040284	ORPHA:1934
170302	ARX	HP:0000280	Coarse facial features	-	OMIM:300004
170302	ARX	HP:0000280	Coarse facial features	HP:0040282	ORPHA:2508
170302	ARX	HP:0000294	Low anterior hairline	-	OMIM:300004
170302	ARX	HP:0000260	Wide anterior fontanel	-	OMIM:300215
170302	ARX	HP:0000252	Microcephaly	HP:0040284	ORPHA:1934
170302	ARX	HP:0000252	Microcephaly	13/13	OMIM:308350
170302	ARX	HP:0000252	Microcephaly	-	OMIM:300004
170302	ARX	HP:0000252	Microcephaly	HP:0040281	ORPHA:2508
170302	ARX	HP:0000252	Microcephaly	HP:0040281	ORPHA:452
170302	ARX	HP:0000219	Thin upper lip vermilion	20/20	OMIM:300215
170302	ARX	HP:0000218	High palate	-	OMIM:300004
170302	ARX	HP:0000218	High palate	-	OMIM:300215
170302	ARX	HP:0001522	Death in infancy	HP:0040282	ORPHA:452
170302	ARX	HP:0001537	Umbilical hernia	HP:0040284	ORPHA:1934
170302	ARX	HP:0001508	Failure to thrive	HP:0040284	ORPHA:1934
170302	ARX	HP:0001500	Broad finger	HP:0040284	ORPHA:1934
170302	ARX	HP:0001510	Growth delay	1/2	OMIM:308350
170302	ARX	HP:0012385	Camptodactyly	3/46	OMIM:309510
170302	ARX	HP:0000369	Low-set ears	-	OMIM:300215
170302	ARX	HP:0000340	Sloping forehead	HP:0040284	ORPHA:1934
170302	ARX	HP:0000343	Long philtrum	-	OMIM:300215
170302	ARX	HP:0000336	Prominent supraorbital ridges	-	OMIM:300004
170302	ARX	HP:0032792	Tonic seizure	2/2	OMIM:308350
170302	ARX	HP:0000348	High forehead	-	OMIM:300215
170302	ARX	HP:0000347	Micrognathia	HP:0040283	ORPHA:452
170302	ARX	HP:0000347	Micrognathia	-	OMIM:300215
170302	ARX	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:452
170302	ARX	HP:0000325	Triangular face	HP:0040281	ORPHA:94083
170302	ARX	HP:0000325	Triangular face	-	OMIM:309510
170302	ARX	HP:0001629	Ventricular septal defect	HP:0040284	ORPHA:1934
170302	ARX	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:452
170302	ARX	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	HP:0040283	ORPHA:1934
170302	ARX	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:1934
170302	ARX	HP:0011167	Focal tonic seizure	HP:0040282	ORPHA:1934
170302	ARX	HP:0011153	Focal motor seizure	1/2	OMIM:308350
170302	ARX	HP:0011153	Focal motor seizure	HP:0040281	ORPHA:1934
170302	ARX	HP:0001738	Exocrine pancreatic insufficiency	HP:0040283	ORPHA:452
170302	ARX	HP:0000407	Sensorineural hearing impairment	1/4	OMIM:300419
170302	ARX	HP:0005280	Depressed nasal bridge	HP:0040284	ORPHA:1934
170302	ARX	HP:0000486	Strabismus	HP:0040282	ORPHA:2508
170302	ARX	HP:0000486	Strabismus	HP:0040284	ORPHA:1934
170302	ARX	HP:0000486	Strabismus	-	OMIM:300004
170302	ARX	HP:0012469	Infantile spasms	HP:0040281	ORPHA:697160
170302	ARX	HP:0012469	Infantile spasms	1/1	OMIM:308350
170302	ARX	HP:0012469	Infantile spasms	5/40	OMIM:309510
170302	ARX	HP:0012469	Infantile spasms	HP:0040283	ORPHA:1934
170302	ARX	HP:0001795	Hyperconvex nail	-	OMIM:300004
170302	ARX	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1934
170302	ARX	HP:0012448	Delayed myelination	HP:0040283	ORPHA:1934
170302	ARX	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:697160
170302	ARX	HP:0001763	Pes planus	3/4	OMIM:300419
170302	ARX	HP:0000411	Protruding ear	-	OMIM:300004
170302	ARX	HP:0000411	Protruding ear	HP:0040282	ORPHA:2508
170302	ARX	HP:0000431	Wide nasal bridge	-	OMIM:300215
170302	ARX	HP:0000426	Prominent nasal bridge	-	OMIM:300215
170302	ARX	HP:0001845	Overlapping toe	-	OMIM:300004
170302	ARX	HP:0000505	Visual impairment	-	OMIM:300004
170302	ARX	HP:0012554	Absent thumbnail	HP:0040284	ORPHA:1934
170302	ARX	HP:0011220	Prominent forehead	HP:0040283	ORPHA:452
170302	ARX	HP:0000568	Microphthalmia	1/1	OMIM:308350
170689	ADAMTS15	HP:0009884	Tapered distal phalanges of finger	5/5	OMIM:620545
170689	ADAMTS15	HP:0001249	Intellectual disability	0/5	OMIM:620545
170689	ADAMTS15	HP:0031006	Acroparesthesia	1/4	OMIM:620545
170689	ADAMTS15	HP:0006089	Palmar hyperhidrosis	2/5	OMIM:620545
170689	ADAMTS15	HP:0000023	Inguinal hernia	2/5	OMIM:620545
170689	ADAMTS15	HP:0000034	Hydrocele testis	1/4	OMIM:620545
170689	ADAMTS15	HP:0000028	Cryptorchidism	2/4	OMIM:620545
170689	ADAMTS15	HP:0000007	Autosomal recessive inheritance	-	OMIM:620545
170689	ADAMTS15	HP:0033748	Hypoesthesia	3/5	OMIM:620545
170689	ADAMTS15	HP:0002650	Scoliosis	3/5	OMIM:620545
170689	ADAMTS15	HP:0003306	Spinal rigidity	3/5	OMIM:620545
170689	ADAMTS15	HP:0003577	Congenital onset	5/5	OMIM:620545
170689	ADAMTS15	HP:0200160	Agenesis of maxillary incisor	1/5	OMIM:620545
170689	ADAMTS15	HP:0001032	Absent distal interphalangeal creases	5/5	OMIM:620545
170689	ADAMTS15	HP:0004209	Clinodactyly of the 5th finger	5/5	OMIM:620545
170689	ADAMTS15	HP:0000678	Dental crowding	3/5	OMIM:620545
170689	ADAMTS15	HP:0009130	Hand muscle atrophy	5/5	OMIM:620545
170689	ADAMTS15	HP:0005879	Congenital finger flexion contractures	5/5	OMIM:620545
170689	ADAMTS15	HP:0006466	Ankle flexion contracture	4/5	OMIM:620545
170689	ADAMTS15	HP:0006380	Knee flexion contracture	4/5	OMIM:620545
170689	ADAMTS15	HP:0000218	High palate	1/2	OMIM:620545
170689	ADAMTS15	HP:0002942	Thoracic kyphosis	4/5	OMIM:620545
170689	ADAMTS15	HP:0000369	Low-set ears	4/5	OMIM:620545
170689	ADAMTS15	HP:0000316	Hypertelorism	1/5	OMIM:620545
170689	ADAMTS15	HP:0001634	Mitral valve prolapse	1/5	OMIM:620545
170689	ADAMTS15	HP:0000486	Strabismus	2/5	OMIM:620545
170689	ADAMTS15	HP:0001771	Achilles tendon contracture	4/5	OMIM:620545
170689	ADAMTS15	HP:0001762	Talipes equinovarus	1/5	OMIM:620545
170689	ADAMTS15	HP:0000508	Ptosis	1/5	OMIM:620545
170691	ADAMTS17	HP:0001156	Brachydactyly	0/7	OMIM:613195
170691	ADAMTS17	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3449
170691	ADAMTS17	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
170691	ADAMTS17	HP:0001293	Cranial nerve compression	-	OMIM:131300
170691	ADAMTS17	HP:0001256	Intellectual disability, mild	HP:0040283	ORPHA:3449
170691	ADAMTS17	HP:0001252	Hypotonia	2/7	OMIM:615777
170691	ADAMTS17	HP:0001249	Intellectual disability	5/7	OMIM:615777
170691	ADAMTS17	HP:0001263	Global developmental delay	-	OMIM:615777
170691	ADAMTS17	HP:0002515	Waddling gait	54/102	OMIM:131300
170691	ADAMTS17	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:3449
170691	ADAMTS17	HP:0001387	Joint stiffness	0/7	OMIM:613195
170691	ADAMTS17	HP:0001387	Joint stiffness	HP:0040283	ORPHA:3449
170691	ADAMTS17	HP:0001382	Joint hypermobility	-	OMIM:615777
170691	ADAMTS17	HP:0002694	Sclerosis of skull base	-	OMIM:131300
170691	ADAMTS17	HP:0008897	Postnatal growth retardation	-	OMIM:615777
170691	ADAMTS17	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
170691	ADAMTS17	HP:0001324	Muscle weakness	40/96	OMIM:131300
170691	ADAMTS17	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
170691	ADAMTS17	HP:0000007	Autosomal recessive inheritance	-	OMIM:613195
170691	ADAMTS17	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
170691	ADAMTS17	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
170691	ADAMTS17	HP:0002650	Scoliosis	12/14	OMIM:131300
170691	ADAMTS17	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
170691	ADAMTS17	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
170691	ADAMTS17	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
170691	ADAMTS17	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
170691	ADAMTS17	HP:0000175	Cleft palate	2/7	OMIM:615777
170691	ADAMTS17	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:3449
170691	ADAMTS17	HP:0030961	Microspherophakia	HP:0040281	ORPHA:3449
170691	ADAMTS17	HP:0003388	Easy fatigability	36/76	OMIM:131300
170691	ADAMTS17	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
170691	ADAMTS17	HP:0003510	Severe short stature	7/7	OMIM:615777
170691	ADAMTS17	HP:0002315	Headache	-	OMIM:131300
170691	ADAMTS17	HP:0004976	Knee dislocation	6/7	OMIM:615777
170691	ADAMTS17	HP:0001072	Thickened skin	HP:0040282	ORPHA:3449
170691	ADAMTS17	HP:0009803	Short phalanx of finger	-	OMIM:615777
170691	ADAMTS17	HP:0001083	Ectopia lentis	-	OMIM:613195
170691	ADAMTS17	HP:0001083	Ectopia lentis	HP:0040282	ORPHA:3449
170691	ADAMTS17	HP:0100693	Iridodonesis	-	OMIM:613195
170691	ADAMTS17	HP:0009778	Short thumb	HP:0040281	ORPHA:3449
170691	ADAMTS17	HP:0009763	Limb pain	63/92	OMIM:131300
170691	ADAMTS17	HP:0003621	Juvenile onset	-	OMIM:131300
170691	ADAMTS17	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
170691	ADAMTS17	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
170691	ADAMTS17	HP:0012629	Phakodonesis	-	OMIM:613195
170691	ADAMTS17	HP:6001056	Out-toeing	-	OMIM:131300
170691	ADAMTS17	HP:0000651	Diplopia	-	OMIM:131300
170691	ADAMTS17	HP:0001956	Truncal obesity	2/7	OMIM:615777
170691	ADAMTS17	HP:0001903	Anemia	HP:0040283	OMIM:131300
170691	ADAMTS17	HP:0010049	Short metacarpal	-	OMIM:615777
170691	ADAMTS17	HP:0000678	Dental crowding	-	OMIM:615777
170691	ADAMTS17	HP:0000670	Carious teeth	-	OMIM:131300
170691	ADAMTS17	HP:0011304	Broad thumb	2/7	OMIM:615777
170691	ADAMTS17	HP:0000668	Hypodontia	-	OMIM:615777
170691	ADAMTS17	HP:0000664	Synophrys	-	OMIM:615777
170691	ADAMTS17	HP:0004322	Short stature	HP:0040281	ORPHA:3449
170691	ADAMTS17	HP:0004322	Short stature	5/7	OMIM:613195
170691	ADAMTS17	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:3449
170691	ADAMTS17	HP:0004396	Poor appetite	-	OMIM:131300
170691	ADAMTS17	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
170691	ADAMTS17	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
170691	ADAMTS17	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
170691	ADAMTS17	HP:0003026	Short long bone	7/7	OMIM:615777
170691	ADAMTS17	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
170691	ADAMTS17	HP:0000767	Pectus excavatum	2/7	OMIM:615777
170691	ADAMTS17	HP:0000768	Pectus carinatum	1/7	OMIM:615777
170691	ADAMTS17	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
170691	ADAMTS17	HP:0000750	Delayed speech and language development	-	OMIM:615777
170691	ADAMTS17	HP:0011484	Posterior synechiae of the anterior chamber	5/7	OMIM:613195
170691	ADAMTS17	HP:0011461	Fetal onset	7/7	OMIM:615777
170691	ADAMTS17	HP:0000774	Narrow chest	2/7	OMIM:615777
170691	ADAMTS17	HP:0000926	Platyspondyly	1/7	OMIM:615777
170691	ADAMTS17	HP:0003180	Flat acetabular roof	-	OMIM:615777
170691	ADAMTS17	HP:0004482	Relative macrocephaly	-	OMIM:615777
170691	ADAMTS17	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
170691	ADAMTS17	HP:0000823	Delayed puberty	-	OMIM:131300
170691	ADAMTS17	HP:0000894	Short clavicles	-	OMIM:615777
170691	ADAMTS17	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
170691	ADAMTS17	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
170691	ADAMTS17	HP:0000286	Epicanthus	1/7	OMIM:615777
170691	ADAMTS17	HP:0000280	Coarse facial features	2/7	OMIM:615777
170691	ADAMTS17	HP:0002827	Hip dislocation	3/7	OMIM:615777
170691	ADAMTS17	HP:0000252	Microcephaly	-	OMIM:615777
170691	ADAMTS17	HP:0002857	Genu valgum	-	OMIM:131300
170691	ADAMTS17	HP:0001533	Slender build	-	OMIM:131300
170691	ADAMTS17	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
170691	ADAMTS17	HP:0007807	Optic nerve compression	-	OMIM:131300
170691	ADAMTS17	HP:0012368	Flat face	7/7	OMIM:615777
170691	ADAMTS17	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
170691	ADAMTS17	HP:0005184	Prolonged QTc interval	HP:0040283	ORPHA:3449
170691	ADAMTS17	HP:0000365	Hearing impairment	10/67	OMIM:131300
170691	ADAMTS17	HP:0011003	High myopia	7/7	OMIM:613195
170691	ADAMTS17	HP:0011003	High myopia	HP:0040281	ORPHA:3449
170691	ADAMTS17	HP:0000343	Long philtrum	1/7	OMIM:615777
170691	ADAMTS17	HP:0011001	Increased bone mineral density	-	OMIM:131300
170691	ADAMTS17	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:3449
170691	ADAMTS17	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:3449
170691	ADAMTS17	HP:0000311	Round face	2/7	OMIM:615777
170691	ADAMTS17	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:3449
170691	ADAMTS17	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:3449
170691	ADAMTS17	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:3449
170691	ADAMTS17	HP:0002970	Genu varum	-	OMIM:615777
170691	ADAMTS17	HP:0000303	Mandibular prognathia	-	OMIM:131300
170691	ADAMTS17	HP:0007906	Ocular hypertension	4/6	OMIM:613195
170691	ADAMTS17	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
170691	ADAMTS17	HP:0000470	Short neck	1/7	OMIM:615777
170691	ADAMTS17	HP:0001769	Broad foot	HP:0040283	OMIM:615777
170691	ADAMTS17	HP:0001763	Pes planus	1/7	OMIM:615777
170691	ADAMTS17	HP:0000518	Cataract	HP:0040283	ORPHA:3449
170691	ADAMTS17	HP:0001840	Metatarsus adductus	-	OMIM:615777
170691	ADAMTS17	HP:0000520	Proptosis	2/4	OMIM:131300
170691	ADAMTS17	HP:0000520	Proptosis	7/7	OMIM:615777
170691	ADAMTS17	HP:0000501	Glaucoma	4/7	OMIM:613195
170691	ADAMTS17	HP:0000501	Glaucoma	HP:0040281	ORPHA:3449
170691	ADAMTS17	HP:0000594	Shallow anterior chamber	6/7	OMIM:613195
170691	ADAMTS17	HP:0000592	Blue sclerae	2/7	OMIM:615777
170691	ADAMTS17	HP:0000572	Visual loss	HP:0040283	ORPHA:3449
170691	ADAMTS17	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
170691	ADAMTS17	HP:0012514	Lower limb pain	4/4	OMIM:131300
170692	ADAMTS18	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
170692	ADAMTS18	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
170692	ADAMTS18	HP:0000007	Autosomal recessive inheritance	-	OMIM:615458
170692	ADAMTS18	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
170692	ADAMTS18	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
170692	ADAMTS18	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
170692	ADAMTS18	HP:0200065	Chorioretinal degeneration	8/8	OMIM:615458
170692	ADAMTS18	HP:0003621	Juvenile onset	8/19	OMIM:180100
170692	ADAMTS18	HP:0000662	Nyctalopia	26/28	OMIM:180100
170692	ADAMTS18	HP:0011463	Childhood onset	3/19	OMIM:180100
170692	ADAMTS18	HP:0011462	Young adult onset	8/19	OMIM:180100
170692	ADAMTS18	HP:0007787	Posterior subcapsular cataract	1/8	OMIM:615458
170692	ADAMTS18	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
170692	ADAMTS18	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
170692	ADAMTS18	HP:0000358	Posteriorly rotated ears	8/8	OMIM:615458
170692	ADAMTS18	HP:0000482	Microcornea	8/8	OMIM:615458
170692	ADAMTS18	HP:0000455	Broad nasal tip	3/8	OMIM:615458
170692	ADAMTS18	HP:0000445	Wide nose	2/8	OMIM:615458
170692	ADAMTS18	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
170692	ADAMTS18	HP:0000506	Telecanthus	8/8	OMIM:615458
170692	ADAMTS18	HP:0000575	Scotoma	5/18	OMIM:180100
170692	ADAMTS18	HP:0000543	Optic disc pallor	1/1	OMIM:180100
170692	ADAMTS18	HP:0000545	Myopia	-	OMIM:180100
170692	ADAMTS18	HP:0000545	Myopia	8/8	OMIM:615458
170825	GSX2	HP:0002540	Inability to walk	2/2	OMIM:618646
170825	GSX2	HP:0002510	Spastic tetraplegia	2/2	OMIM:618646
170825	GSX2	HP:0008872	Feeding difficulties in infancy	2/2	OMIM:618646
170825	GSX2	HP:0001332	Dystonia	2/2	OMIM:618646
170825	GSX2	HP:0001344	Absent speech	2/2	OMIM:618646
170825	GSX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618646
170825	GSX2	HP:0040326	Hypoplasia of the olfactory bulb	2/2	OMIM:618646
170825	GSX2	HP:0002134	Abnormal basal ganglia morphology	2/2	OMIM:618646
170825	GSX2	HP:0003577	Congenital onset	-	OMIM:618646
170825	GSX2	HP:0012695	Decreased thalamic volume	2/2	OMIM:618646
170825	GSX2	HP:0011344	Severe global developmental delay	2/2	OMIM:618646
171019	ADAMTS19	HP:0025168	Left ventricular diastolic dysfunction	1/4	OMIM:620067
171019	ADAMTS19	HP:0000007	Autosomal recessive inheritance	-	OMIM:620067
171019	ADAMTS19	HP:0033755	Increased left ventricular end-diastolic volume	1/4	OMIM:620067
171019	ADAMTS19	HP:0010444	Pulmonic regurgitation	2/4	OMIM:620067
171019	ADAMTS19	HP:0003577	Congenital onset	1/4	OMIM:620067
171019	ADAMTS19	HP:0100749	Chest pain	1/4	OMIM:620067
171019	ADAMTS19	HP:0004970	Ascending tubular aorta aneurysm	2/4	OMIM:620067
171019	ADAMTS19	HP:0004927	Pulmonary artery dilatation	2/4	OMIM:620067
171019	ADAMTS19	HP:0034032	Central cyanosis	1/4	OMIM:620067
171019	ADAMTS19	HP:0001962	Palpitations	1/4	OMIM:620067
171019	ADAMTS19	HP:0011463	Childhood onset	3/4	OMIM:620067
171019	ADAMTS19	HP:0005176	Dysplastic aortic valve	2/4	OMIM:620067
171019	ADAMTS19	HP:0005180	Tricuspid regurgitation	1/4	OMIM:620067
171019	ADAMTS19	HP:0001682	Subvalvular aortic stenosis	1/4	OMIM:620067
171019	ADAMTS19	HP:0001647	Bicuspid aortic valve	1/4	OMIM:620067
171019	ADAMTS19	HP:0001642	Pulmonic stenosis	4/4	OMIM:620067
171019	ADAMTS19	HP:0030148	Heart murmur	1/4	OMIM:620067
171019	ADAMTS19	HP:0001659	Aortic regurgitation	3/4	OMIM:620067
171019	ADAMTS19	HP:0031664	Systolic heart murmur	1/4	OMIM:620067
171023	ASXL1	HP:0025142	Constitutional symptom	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0001169	Broad palm	-	OMIM:605039
171023	ASXL1	HP:0001182	Tapered finger	-	OMIM:605039
171023	ASXL1	HP:0001159	Syndactyly	3/7	OMIM:605039
171023	ASXL1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0001274	Agenesis of corpus callosum	-	OMIM:605039
171023	ASXL1	HP:0001279	Syncope	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0001250	Seizure	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0001250	Seizure	3/6	OMIM:605039
171023	ASXL1	HP:0001252	Hypotonia	15/17	OMIM:605039
171023	ASXL1	HP:0001263	Global developmental delay	-	OMIM:605039
171023	ASXL1	HP:0002558	Supernumerary nipple	-	OMIM:605039
171023	ASXL1	HP:0002566	Intestinal malrotation	-	OMIM:605039
171023	ASXL1	HP:0100845	Anaphylactic shock	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0100874	Thick hair	-	OMIM:605039
171023	ASXL1	HP:0006070	Metacarpophalangeal joint contracture	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0002540	Inability to walk	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:98849
171023	ASXL1	HP:0000076	Vesicoureteral reflux	-	OMIM:605039
171023	ASXL1	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0001371	Flexion contracture	6/7	OMIM:605039
171023	ASXL1	HP:0001373	Joint dislocation	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0001373	Joint dislocation	-	OMIM:605039
171023	ASXL1	HP:0000016	Urinary retention	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0006191	Deep palmar crease	4/7	OMIM:605039
171023	ASXL1	HP:0002659	Increased susceptibility to fractures	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0002667	Nephroblastoma	HP:0040284	ORPHA:97297
171023	ASXL1	HP:0002665	Lymphoma	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:605039
171023	ASXL1	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0001305	Dandy-Walker malformation	-	OMIM:605039
171023	ASXL1	HP:0002653	Bone pain	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0002653	Bone pain	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0002643	Neonatal respiratory distress	2/7	OMIM:605039
171023	ASXL1	HP:0002615	Hypotension	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0002615	Hypotension	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0000187	Broad alveolar ridges	5/6	OMIM:605039
171023	ASXL1	HP:0000189	Narrow palate	-	OMIM:605039
171023	ASXL1	HP:0000160	Narrow mouth	1/6	OMIM:605039
171023	ASXL1	HP:0000175	Cleft palate	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0012138	Granulocytic hyperplasia	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0002797	Osteolysis	HP:0040283	ORPHA:98850
171023	ASXL1	HP:0005026	Mesomelic/rhizomelic limb shortening	-	OMIM:605039
171023	ASXL1	HP:0410030	Cleft lip	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0031284	Flushing	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0031284	Flushing	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0006276	Hyperechogenic pancreas	-	OMIM:605039
171023	ASXL1	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:98850
171023	ASXL1	HP:0001442	Typified by somatic mosaicism	-	OMIM:614286
171023	ASXL1	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0001410	Decreased liver function	HP:0040283	ORPHA:98850
171023	ASXL1	HP:0001409	Portal hypertension	HP:0040283	ORPHA:98850
171023	ASXL1	HP:0002719	Recurrent infections	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0002719	Recurrent infections	4/6	OMIM:605039
171023	ASXL1	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0002024	Malabsorption	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0002020	Gastroesophageal reflux	-	OMIM:605039
171023	ASXL1	HP:0002018	Nausea	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0003326	Myalgia	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0002014	Diarrhea	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0002014	Diarrhea	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0002013	Vomiting	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0002086	Abnormality of the respiratory system	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:605039
171023	ASXL1	HP:0002039	Anorexia	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0002104	Apnea	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0002187	Intellectual disability, profound	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0002187	Intellectual disability, profound	6/6	OMIM:605039
171023	ASXL1	HP:0100494	Abnormal mast cell morphology	HP:0040281	ORPHA:98850
171023	ASXL1	HP:0100494	Abnormal mast cell morphology	HP:0040281	ORPHA:98849
171023	ASXL1	HP:0011897	Increased total neutrophil count	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0003577	Congenital onset	7/7	OMIM:605039
171023	ASXL1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:98850
171023	ASXL1	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0002282	Gray matter heterotopia	-	OMIM:605039
171023	ASXL1	HP:0011968	Feeding difficulties	6/6	OMIM:605039
171023	ASXL1	HP:0004808	Acute myeloid leukemia	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0001052	Nevus flammeus	HP:0040281	ORPHA:97297
171023	ASXL1	HP:0001052	Nevus flammeus	-	OMIM:605039
171023	ASXL1	HP:0002365	Hypoplasia of the brainstem	-	OMIM:605039
171023	ASXL1	HP:0002360	Sleep abnormality	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0001007	Hirsutism	-	OMIM:605039
171023	ASXL1	HP:0001025	Urticaria	HP:0040283	ORPHA:98850
171023	ASXL1	HP:0001025	Urticaria	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0002315	Headache	HP:0040282	ORPHA:98849
171023	ASXL1	HP:0001081	Cholelithiasis	HP:0040284	ORPHA:97297
171023	ASXL1	HP:0032155	Abdominal cramps	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0010733	Naevus flammeus of the eyelid	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0006863	Severe expressive language delay	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0031807	Increased total basophil count	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0005550	Chronic lymphatic leukemia	HP:0040284	ORPHA:98849
171023	ASXL1	HP:0006895	Lower limb hypertonia	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0005547	Myeloproliferative disorder	HP:0040282	ORPHA:98849
171023	ASXL1	HP:0001971	Hypersplenism	HP:0040283	ORPHA:98850
171023	ASXL1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0001974	Increased total leukocyte count	HP:0040282	ORPHA:98849
171023	ASXL1	HP:0001945	Fever	HP:0040282	ORPHA:98849
171023	ASXL1	HP:0001909	Leukemia	HP:0040283	ORPHA:98850
171023	ASXL1	HP:0001903	Anemia	HP:0040283	ORPHA:98850
171023	ASXL1	HP:0000664	Synophrys	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0004322	Short stature	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0004322	Short stature	-	OMIM:605039
171023	ASXL1	HP:0003083	Dislocated radial head	-	OMIM:605039
171023	ASXL1	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0031901	Elevated total serum tryptase	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0031901	Elevated total serum tryptase	HP:0040281	ORPHA:98849
171023	ASXL1	HP:0003049	Ulnar deviation of the wrist	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0003049	Ulnar deviation of the wrist	-	OMIM:605039
171023	ASXL1	HP:0004377	Hematological neoplasm	HP:0040283	ORPHA:98850
171023	ASXL1	HP:0004377	Hematological neoplasm	HP:0040281	ORPHA:98849
171023	ASXL1	HP:0011401	Delayed peripheral myelination	-	OMIM:605039
171023	ASXL1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:97297
171023	ASXL1	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0100337	Bilateral cleft palate	2/7	OMIM:605039
171023	ASXL1	HP:0100334	Unilateral cleft palate	1/7	OMIM:605039
171023	ASXL1	HP:0010291	Prominent palatine ridges	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0040082	Happy demeanor	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0000998	Hypertrichosis	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0000998	Hypertrichosis	6/7	OMIM:605039
171023	ASXL1	HP:0000980	Pallor	HP:0040282	ORPHA:98849
171023	ASXL1	HP:0000973	Cutis laxa	2/7	OMIM:605039
171023	ASXL1	HP:0000989	Pruritus	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0000989	Pruritus	HP:0040282	ORPHA:98849
171023	ASXL1	HP:0000960	Sacral dimple	3/7	OMIM:605039
171023	ASXL1	HP:0000939	Osteoporosis	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:98850
171023	ASXL1	HP:0040186	Maculopapular exanthema	HP:0040283	ORPHA:98850
171023	ASXL1	HP:0000286	Epicanthus	1/7	OMIM:605039
171023	ASXL1	HP:0000278	Retrognathia	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0000278	Retrognathia	-	OMIM:605039
171023	ASXL1	HP:0000297	Facial hypotonia	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0000293	Full cheeks	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0000294	Low anterior hairline	5/7	OMIM:605039
171023	ASXL1	HP:0031408	Increased proportion of CD25+ mast cells	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0000276	Long face	-	OMIM:605039
171023	ASXL1	HP:0006471	Fixed elbow flexion	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0002829	Arthralgia	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0002829	Arthralgia	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0002803	Congenital contracture	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0000243	Trigonocephaly	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0000243	Trigonocephaly	6/7	OMIM:605039
171023	ASXL1	HP:0000252	Microcephaly	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0000252	Microcephaly	7/7	OMIM:605039
171023	ASXL1	HP:0001561	Polyhydramnios	-	OMIM:605039
171023	ASXL1	HP:0002885	Medulloblastoma	HP:0040284	ORPHA:97297
171023	ASXL1	HP:0001525	Severe failure to thrive	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0002870	Obstructive sleep apnea	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0001541	Ascites	HP:0040283	ORPHA:98850
171023	ASXL1	HP:0000204	Cleft upper lip	-	OMIM:605039
171023	ASXL1	HP:0002863	Myelodysplasia	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0002863	Myelodysplasia	-	OMIM:614286
171023	ASXL1	HP:0001508	Failure to thrive	6/6	OMIM:605039
171023	ASXL1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0001511	Intrauterine growth retardation	6/7	OMIM:605039
171023	ASXL1	HP:0012378	Fatigue	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0012378	Fatigue	HP:0040282	ORPHA:98849
171023	ASXL1	HP:0012385	Camptodactyly	-	OMIM:605039
171023	ASXL1	HP:0011034	Amyloidosis	HP:0040284	ORPHA:98849
171023	ASXL1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0000358	Posteriorly rotated ears	4/7	OMIM:605039
171023	ASXL1	HP:0011003	High myopia	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0000369	Low-set ears	4/7	OMIM:605039
171023	ASXL1	HP:0000341	Narrow forehead	-	OMIM:605039
171023	ASXL1	HP:0001671	Abnormal cardiac septum morphology	HP:0040284	ORPHA:97297
171023	ASXL1	HP:0012324	Myeloid leukemia	HP:0040281	ORPHA:98849
171023	ASXL1	HP:0012325	Chronic myelomonocytic leukemia	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0000347	Micrognathia	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0000347	Micrognathia	-	OMIM:605039
171023	ASXL1	HP:0000316	Hypertelorism	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0000316	Hypertelorism	3/7	OMIM:605039
171023	ASXL1	HP:0001649	Tachycardia	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0001662	Bradycardia	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0000329	Facial hemangioma	6/7	OMIM:605039
171023	ASXL1	HP:0001629	Ventricular septal defect	-	OMIM:605039
171023	ASXL1	HP:0001640	Cardiomegaly	HP:0040284	ORPHA:97297
171023	ASXL1	HP:0001631	Atrial septal defect	-	OMIM:605039
171023	ASXL1	HP:0006610	Wide intermamillary distance	-	OMIM:605039
171023	ASXL1	HP:0001734	Annular pancreas	HP:0040284	ORPHA:97297
171023	ASXL1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0005280	Depressed nasal bridge	2/6	OMIM:605039
171023	ASXL1	HP:0000486	Strabismus	3/6	OMIM:605039
171023	ASXL1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0000463	Anteverted nares	2/6	OMIM:605039
171023	ASXL1	HP:0012448	Delayed myelination	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0012453	Bilateral wrist flexion contracture	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0011121	Abnormal skin morphology	HP:0040283	ORPHA:98850
171023	ASXL1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:98849
171023	ASXL1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:97297
171023	ASXL1	HP:0000431	Wide nasal bridge	2/6	OMIM:605039
171023	ASXL1	HP:0005487	Prominent metopic ridge	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0005487	Prominent metopic ridge	-	OMIM:605039
171023	ASXL1	HP:0006775	Multiple myeloma	HP:0040284	ORPHA:98849
171023	ASXL1	HP:0001845	Overlapping toe	-	OMIM:605039
171023	ASXL1	HP:0000520	Proptosis	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0000520	Proptosis	7/7	OMIM:605039
171023	ASXL1	HP:0001824	Weight loss	HP:0040282	ORPHA:98850
171023	ASXL1	HP:0001824	Weight loss	HP:0040282	ORPHA:98849
171023	ASXL1	HP:0001831	Short toe	-	OMIM:605039
171023	ASXL1	HP:0000582	Upslanted palpebral fissure	4/7	OMIM:605039
171023	ASXL1	HP:0000587	Abnormal optic nerve morphology	-	OMIM:605039
171023	ASXL1	HP:0000589	Coloboma	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0011220	Prominent forehead	-	OMIM:605039
171023	ASXL1	HP:0012537	Food intolerance	HP:0040282	ORPHA:97297
171023	ASXL1	HP:0001895	Normochromic anemia	HP:0040282	ORPHA:98849
171023	ASXL1	HP:0001897	Normocytic anemia	HP:0040282	ORPHA:98849
171023	ASXL1	HP:0001869	Deep plantar creases	-	OMIM:605039
171023	ASXL1	HP:0001880	Increased total eosinophil count	HP:0040282	ORPHA:98849
171023	ASXL1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:98850
171023	ASXL1	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:98849
171023	ASXL1	HP:0001876	Pancytopenia	HP:0040283	ORPHA:98850
171023	ASXL1	HP:0000545	Myopia	5/6	OMIM:605039
171023	ASXL1	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:98850
171546	SPTSSA	HP:0001250	Seizure	0/2	OMIM:620416
171546	SPTSSA	HP:0001250	Seizure	1/1	OMIM:620417
171546	SPTSSA	HP:0001249	Intellectual disability	2/2	OMIM:620416
171546	SPTSSA	HP:0001249	Intellectual disability	0/1	OMIM:620417
171546	SPTSSA	HP:0001332	Dystonia	1/2	OMIM:620416
171546	SPTSSA	HP:0001332	Dystonia	0/1	OMIM:620417
171546	SPTSSA	HP:0001344	Absent speech	1/2	OMIM:620416
171546	SPTSSA	HP:0001344	Absent speech	0/1	OMIM:620417
171546	SPTSSA	HP:0000007	Autosomal recessive inheritance	-	OMIM:620417
171546	SPTSSA	HP:0000006	Autosomal dominant inheritance	-	OMIM:620416
171546	SPTSSA	HP:0002650	Scoliosis	1/1	OMIM:620416
171546	SPTSSA	HP:0008936	Axial hypotonia	2/2	OMIM:620416
171546	SPTSSA	HP:0008936	Axial hypotonia	0/1	OMIM:620417
171546	SPTSSA	HP:0002020	Gastroesophageal reflux	1/2	OMIM:620416
171546	SPTSSA	HP:0002020	Gastroesophageal reflux	1/1	OMIM:620417
171546	SPTSSA	HP:0002015	Dysphagia	1/2	OMIM:620416
171546	SPTSSA	HP:0002015	Dysphagia	0/1	OMIM:620417
171546	SPTSSA	HP:0002064	Spastic gait	1/1	OMIM:620416
171546	SPTSSA	HP:0002144	Tethered cord	1/2	OMIM:620416
171546	SPTSSA	HP:0002144	Tethered cord	0/1	OMIM:620417
171546	SPTSSA	HP:0003593	Infantile onset	2/2	OMIM:620416
171546	SPTSSA	HP:0003593	Infantile onset	1/1	OMIM:620417
171546	SPTSSA	HP:0001052	Nevus flammeus	2/2	OMIM:620416
171546	SPTSSA	HP:0002360	Sleep abnormality	1/2	OMIM:620416
171546	SPTSSA	HP:0002360	Sleep abnormality	0/1	OMIM:620417
171546	SPTSSA	HP:0002307	Drooling	1/2	OMIM:620416
171546	SPTSSA	HP:0002307	Drooling	0/1	OMIM:620417
171546	SPTSSA	HP:0004322	Short stature	2/2	OMIM:620416
171546	SPTSSA	HP:0004322	Short stature	1/1	OMIM:620417
171546	SPTSSA	HP:0031936	Delayed ability to walk	2/2	OMIM:620416
171546	SPTSSA	HP:0031936	Delayed ability to walk	1/1	OMIM:620417
171546	SPTSSA	HP:0000750	Delayed speech and language development	1/1	OMIM:620416
171546	SPTSSA	HP:0034392	Joint contracture	1/1	OMIM:620417
171546	SPTSSA	HP:0034353	Appendicular spasticity	2/2	OMIM:620416
171546	SPTSSA	HP:0034353	Appendicular spasticity	1/1	OMIM:620417
171546	SPTSSA	HP:0000256	Macrocephaly	1/2	OMIM:620416
171546	SPTSSA	HP:0000256	Macrocephaly	0/1	OMIM:620417
171546	SPTSSA	HP:0001508	Failure to thrive	1/2	OMIM:620416
171546	SPTSSA	HP:0001508	Failure to thrive	1/1	OMIM:620417
171546	SPTSSA	HP:0000407	Sensorineural hearing impairment	1/2	OMIM:620416
171546	SPTSSA	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:620417
171546	SPTSSA	HP:0000545	Myopia	1/1	OMIM:620417
171568	POLR3H	HP:0001166	Arachnodactyly	HP:0040284	ORPHA:243
171568	POLR3H	HP:0009888	Abnormality of secondary sexual hair	HP:0040281	ORPHA:243
171568	POLR3H	HP:0001251	Ataxia	HP:0040284	ORPHA:243
171568	POLR3H	HP:0008684	Aplasia/hypoplasia of the uterus	HP:0040282	ORPHA:243
171568	POLR3H	HP:0000062	Ambiguous genitalia	-	ORPHA:243
171568	POLR3H	HP:0000144	Decreased fertility	HP:0040281	ORPHA:243
171568	POLR3H	HP:0000133	Gonadal dysgenesis	HP:0040280	ORPHA:243
171568	POLR3H	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:243
171568	POLR3H	HP:0010464	Streak ovary	HP:0040282	ORPHA:243
171568	POLR3H	HP:0008209	Premature ovarian insufficiency	HP:0040280	ORPHA:243
171568	POLR3H	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:243
171568	POLR3H	HP:0002225	Sparse pubic hair	HP:0040282	ORPHA:243
171568	POLR3H	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:243
171568	POLR3H	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040283	ORPHA:243
171568	POLR3H	HP:0004322	Short stature	HP:0040283	ORPHA:243
171568	POLR3H	HP:0005625	Osteoporosis of vertebrae	HP:0040282	ORPHA:243
171568	POLR3H	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:243
171568	POLR3H	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:243
171568	POLR3H	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:243
171568	POLR3H	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:243
171568	POLR3H	HP:0000823	Delayed puberty	HP:0040281	ORPHA:243
171568	POLR3H	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:243
171568	POLR3H	HP:0000938	Osteopenia	HP:0040282	ORPHA:243
171568	POLR3H	HP:0000252	Microcephaly	HP:0040284	ORPHA:243
171568	POLR3H	HP:0000365	Hearing impairment	HP:0040283	ORPHA:243
196385	DNAH10	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
196385	DNAH10	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
196385	DNAH10	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
196385	DNAH10	HP:0000007	Autosomal recessive inheritance	-	OMIM:619515
196385	DNAH10	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
196385	DNAH10	HP:0032558	Absent sperm flagella	4/5	OMIM:619515
196385	DNAH10	HP:0032559	Short sperm flagella	5/5	OMIM:619515
196385	DNAH10	HP:0032560	Coiled sperm flagella	5/5	OMIM:619515
196385	DNAH10	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
196385	DNAH10	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
196385	DNAH10	HP:0033393	Irregularly shaped sperm tail	5/5	OMIM:619515
196385	DNAH10	HP:0034011	Reduced progressive sperm motility	5/5	OMIM:619515
196385	DNAH10	HP:0000798	Oligozoospermia	3/5	OMIM:619515
196385	DNAH10	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
196385	DNAH10	HP:0003251	Male infertility	5/5	OMIM:619515
196385	DNAH10	HP:0012207	Reduced sperm motility	5/5	OMIM:619515
196527	ANO6	HP:0000007	Autosomal recessive inheritance	-	OMIM:262890
196527	ANO6	HP:0008354	Factor X activation deficiency	-	OMIM:262890
196527	ANO6	HP:0001892	Abnormal bleeding	-	OMIM:262890
196528	ARID2	HP:0001156	Brachydactyly	-	OMIM:617808
196528	ARID2	HP:0009928	Thick nasal alae	HP:0040282	ORPHA:1465
196528	ARID2	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:1465
196528	ARID2	HP:0009879	Simplified gyral pattern	HP:0040283	ORPHA:1465
196528	ARID2	HP:0001290	Generalized hypotonia	-	OMIM:617808
196528	ARID2	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:1465
196528	ARID2	HP:0001270	Motor delay	-	OMIM:617808
196528	ARID2	HP:0001250	Seizure	0/4	OMIM:617808
196528	ARID2	HP:0001250	Seizure	HP:0040282	ORPHA:1465
196528	ARID2	HP:0001249	Intellectual disability	-	OMIM:617808
196528	ARID2	HP:0001263	Global developmental delay	4/4	OMIM:617808
196528	ARID2	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:1465
196528	ARID2	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:1465
196528	ARID2	HP:0000047	Hypospadias	HP:0040283	ORPHA:1465
196528	ARID2	HP:0001357	Plagiocephaly	2/4	OMIM:617808
196528	ARID2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:1465
196528	ARID2	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:1465
196528	ARID2	HP:0001344	Absent speech	HP:0040283	ORPHA:1465
196528	ARID2	HP:0000006	Autosomal dominant inheritance	1/2	OMIM:617808
196528	ARID2	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:1465
196528	ARID2	HP:0002650	Scoliosis	HP:0040282	ORPHA:1465
196528	ARID2	HP:0002645	Wormian bones	2/4	OMIM:617808
196528	ARID2	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:1465
196528	ARID2	HP:0000175	Cleft palate	1/4	OMIM:617808
196528	ARID2	HP:0000154	Wide mouth	HP:0040281	ORPHA:1465
196528	ARID2	HP:0008947	Floppy infant	HP:0040282	ORPHA:1465
196528	ARID2	HP:0002705	High, narrow palate	-	OMIM:617808
196528	ARID2	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:1465
196528	ARID2	HP:0002788	Recurrent upper respiratory tract infections	HP:0040282	ORPHA:1465
196528	ARID2	HP:0002751	Kyphoscoliosis	1/4	OMIM:617808
196528	ARID2	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:1465
196528	ARID2	HP:0002719	Recurrent infections	HP:0040282	ORPHA:1465
196528	ARID2	HP:0002020	Gastroesophageal reflux	-	OMIM:617808
196528	ARID2	HP:0002019	Constipation	-	OMIM:617808
196528	ARID2	HP:0002003	Large forehead	-	OMIM:617808
196528	ARID2	HP:0002002	Deep philtrum	-	OMIM:617808
196528	ARID2	HP:0002007	Frontal bossing	-	OMIM:617808
196528	ARID2	HP:0011937	Hypoplastic fifth toenail	HP:0040282	ORPHA:1465
196528	ARID2	HP:0003593	Infantile onset	4/4	OMIM:617808
196528	ARID2	HP:0100702	Arachnoid cyst	1/2	OMIM:617808
196528	ARID2	HP:0002209	Sparse scalp hair	HP:0040282	ORPHA:1465
196528	ARID2	HP:0100790	Hernia	HP:0040283	ORPHA:1465
196528	ARID2	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:617808
196528	ARID2	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:1465
196528	ARID2	HP:0011951	Aspiration pneumonia	HP:0040282	ORPHA:1465
196528	ARID2	HP:0008398	Hypoplastic fifth fingernail	HP:0040282	ORPHA:1465
196528	ARID2	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:1465
196528	ARID2	HP:0001007	Hirsutism	HP:0040282	ORPHA:1465
196528	ARID2	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:1465
196528	ARID2	HP:0001999	Abnormal facial shape	-	OMIM:617808
196528	ARID2	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:1465
196528	ARID2	HP:0004322	Short stature	4/4	OMIM:617808
196528	ARID2	HP:0006970	Periventricular leukomalacia	1/2	OMIM:617808
196528	ARID2	HP:0000752	Hyperactivity	HP:0040283	ORPHA:1465
196528	ARID2	HP:0000767	Pectus excavatum	1/4	OMIM:617808
196528	ARID2	HP:0100033	Tics	-	OMIM:617808
196528	ARID2	HP:0000739	Anxiety	-	OMIM:617808
196528	ARID2	HP:0000733	Motor stereotypy	-	OMIM:617808
196528	ARID2	HP:0000750	Delayed speech and language development	-	OMIM:617808
196528	ARID2	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:1465
196528	ARID2	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1465
196528	ARID2	HP:0000708	Atypical behavior	HP:0040282	ORPHA:1465
196528	ARID2	HP:0012758	Neurodevelopmental delay	4/4	OMIM:617808
196528	ARID2	HP:0009110	Diaphragmatic eventration	1/4	OMIM:617808
196528	ARID2	HP:0003196	Short nose	HP:0040282	ORPHA:1465
196528	ARID2	HP:0012810	Wide nasal base	HP:0040282	ORPHA:1465
196528	ARID2	HP:0009237	Short 5th finger	HP:0040282	ORPHA:1465
196528	ARID2	HP:0000998	Hypertrichosis	HP:0040281	ORPHA:1465
196528	ARID2	HP:0045025	Narrow palpebral fissure	-	OMIM:617808
196528	ARID2	HP:0000286	Epicanthus	-	OMIM:617808
196528	ARID2	HP:0000280	Coarse facial features	-	OMIM:617808
196528	ARID2	HP:0000280	Coarse facial features	HP:0040281	ORPHA:1465
196528	ARID2	HP:0000278	Retrognathia	-	OMIM:617808
196528	ARID2	HP:0000294	Low anterior hairline	HP:0040282	ORPHA:1465
196528	ARID2	HP:0000289	Broad philtrum	HP:0040282	ORPHA:1465
196528	ARID2	HP:0030084	Clinodactyly	-	OMIM:617808
196528	ARID2	HP:0030084	Clinodactyly	HP:0040282	ORPHA:1465
196528	ARID2	HP:0000252	Microcephaly	HP:0040284	ORPHA:1465
196528	ARID2	HP:0002884	Hepatoblastoma	HP:0040284	ORPHA:1465
196528	ARID2	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:1465
196528	ARID2	HP:0002895	Papillary thyroid carcinoma	HP:0040284	ORPHA:1465
196528	ARID2	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:1465
196528	ARID2	HP:0001510	Growth delay	HP:0040282	ORPHA:1465
196528	ARID2	HP:0000365	Hearing impairment	HP:0040282	ORPHA:1465
196528	ARID2	HP:0000358	Posteriorly rotated ears	4/4	OMIM:617808
196528	ARID2	HP:0000369	Low-set ears	4/4	OMIM:617808
196528	ARID2	HP:0000348	High forehead	-	OMIM:617808
196528	ARID2	HP:0000347	Micrognathia	1/2	OMIM:617808
196528	ARID2	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:1465
196528	ARID2	HP:0000322	Short philtrum	-	OMIM:617808
196528	ARID2	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:1465
196528	ARID2	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:1465
196528	ARID2	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:1465
196528	ARID2	HP:0001631	Atrial septal defect	1/4	OMIM:617808
196528	ARID2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:1465
196528	ARID2	HP:0000405	Conductive hearing impairment	1/4	OMIM:617808
196528	ARID2	HP:0005280	Depressed nasal bridge	-	OMIM:617808
196528	ARID2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:1465
196528	ARID2	HP:0000486	Strabismus	HP:0040282	ORPHA:1465
196528	ARID2	HP:0000494	Downslanted palpebral fissures	-	OMIM:617808
196528	ARID2	HP:0001792	Small nail	HP:0040281	ORPHA:1465
196528	ARID2	HP:0000463	Anteverted nares	HP:0040282	ORPHA:1465
196528	ARID2	HP:0000455	Broad nasal tip	-	OMIM:617808
196528	ARID2	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:1465
196528	ARID2	HP:0000508	Ptosis	HP:0040282	ORPHA:1465
196528	ARID2	HP:0000505	Visual impairment	HP:0040282	ORPHA:1465
196528	ARID2	HP:0011231	Prominent eyelashes	HP:0040281	ORPHA:1465
196528	ARID2	HP:0000574	Thick eyebrow	HP:0040281	ORPHA:1465
196528	ARID2	HP:0012523	Oral aversion	HP:0040283	ORPHA:1465
196528	ARID2	HP:0000545	Myopia	HP:0040283	ORPHA:1465
197131	UBR1	HP:0001153	Septate vagina	-	OMIM:243800
197131	UBR1	HP:0001290	Generalized hypotonia	-	OMIM:243800
197131	UBR1	HP:0001252	Hypotonia	HP:0040283	ORPHA:2315
197131	UBR1	HP:0001252	Hypotonia	-	OMIM:243800
197131	UBR1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2315
197131	UBR1	HP:0001249	Intellectual disability	-	OMIM:243800
197131	UBR1	HP:0002557	Hypoplastic nipples	-	OMIM:243800
197131	UBR1	HP:0007430	Generalized edema	-	OMIM:243800
197131	UBR1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:2315
197131	UBR1	HP:0008716	Urethrovaginal fistula	-	OMIM:243800
197131	UBR1	HP:0007385	Aplasia cutis congenita of scalp	-	OMIM:243800
197131	UBR1	HP:0008665	Clitoral hypertrophy	-	OMIM:243800
197131	UBR1	HP:0003819	Death in childhood	-	OMIM:243800
197131	UBR1	HP:0001399	Hepatic failure	1/1	OMIM:243800
197131	UBR1	HP:0001395	Hepatic fibrosis	1/1	OMIM:243800
197131	UBR1	HP:0012050	Anasarca	-	OMIM:243800
197131	UBR1	HP:0000054	Micropenis	-	OMIM:243800
197131	UBR1	HP:0001382	Joint hypermobility	-	OMIM:243800
197131	UBR1	HP:0000047	Hypospadias	-	OMIM:243800
197131	UBR1	HP:0000047	Hypospadias	HP:0040283	ORPHA:2315
197131	UBR1	HP:0001362	Calvarial skull defect	-	OMIM:243800
197131	UBR1	HP:0000028	Cryptorchidism	-	OMIM:243800
197131	UBR1	HP:0008846	Severe intrauterine growth retardation	1/1	OMIM:243800
197131	UBR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:243800
197131	UBR1	HP:0002617	Vascular dilatation	-	OMIM:243800
197131	UBR1	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:2315
197131	UBR1	HP:0000143	Rectovaginal fistula	-	OMIM:243800
197131	UBR1	HP:0000142	Abnormal vagina morphology	HP:0040282	ORPHA:2315
197131	UBR1	HP:0006349	Agenesis of permanent teeth	-	OMIM:243800
197131	UBR1	HP:0006334	Hypoplasia of the primary teeth	-	OMIM:243800
197131	UBR1	HP:0000126	Hydronephrosis	-	OMIM:243800
197131	UBR1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:2315
197131	UBR1	HP:0001409	Portal hypertension	1/1	OMIM:243800
197131	UBR1	HP:0001406	Intrahepatic cholestasis	1/1	OMIM:243800
197131	UBR1	HP:0002750	Delayed skeletal maturation	-	OMIM:243800
197131	UBR1	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:2315
197131	UBR1	HP:0002714	Downturned corners of mouth	1/1	OMIM:243800
197131	UBR1	HP:0002023	Anal atresia	1/1	OMIM:243800
197131	UBR1	HP:0002023	Anal atresia	HP:0040282	ORPHA:2315
197131	UBR1	HP:0002024	Malabsorption	-	OMIM:243800
197131	UBR1	HP:0002024	Malabsorption	HP:0040281	ORPHA:2315
197131	UBR1	HP:0003362	Increased VLDL cholesterol concentration	-	OMIM:243800
197131	UBR1	HP:0030948	Elevated gamma-glutamyltransferase level	1/1	OMIM:243800
197131	UBR1	HP:0010460	Abnormality of the female genitalia	HP:0040282	ORPHA:2315
197131	UBR1	HP:0002240	Hepatomegaly	1/1	OMIM:243800
197131	UBR1	HP:0002236	Frontal upsweep of hair	-	OMIM:243800
197131	UBR1	HP:0002253	Colonic diverticula	-	OMIM:243800
197131	UBR1	HP:0002209	Sparse scalp hair	-	OMIM:243800
197131	UBR1	HP:0010720	Abnormal hair pattern	HP:0040281	ORPHA:2315
197131	UBR1	HP:0002286	Fair hair	-	OMIM:243800
197131	UBR1	HP:0001092	Absent lacrimal punctum	-	OMIM:243800
197131	UBR1	HP:0001092	Absent lacrimal punctum	HP:0040282	ORPHA:2315
197131	UBR1	HP:0032106	Conjunctival icterus	1/1	OMIM:243800
197131	UBR1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:243800
197131	UBR1	HP:0000632	Lacrimation abnormality	HP:0040282	ORPHA:2315
197131	UBR1	HP:0001903	Anemia	HP:0040282	ORPHA:2315
197131	UBR1	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:2315
197131	UBR1	HP:0000677	Oligodontia	HP:0040282	ORPHA:2315
197131	UBR1	HP:0000691	Microdontia	HP:0040282	ORPHA:2315
197131	UBR1	HP:0004322	Short stature	HP:0040281	ORPHA:2315
197131	UBR1	HP:0004322	Short stature	-	OMIM:243800
197131	UBR1	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1/1	OMIM:243800
197131	UBR1	HP:0031964	Elevated circulating alanine aminotransferase concentration	1/1	OMIM:243800
197131	UBR1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2315
197131	UBR1	HP:0003075	Hypoproteinemia	HP:0040282	ORPHA:2315
197131	UBR1	HP:0034197	Third trimester onset	1/1	OMIM:243800
197131	UBR1	HP:0003196	Short nose	HP:0040281	ORPHA:2315
197131	UBR1	HP:0000832	Primary hypothyroidism	1/1	OMIM:243800
197131	UBR1	HP:0000819	Diabetes mellitus	-	OMIM:243800
197131	UBR1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2315
197131	UBR1	HP:0000821	Hypothyroidism	-	OMIM:243800
197131	UBR1	HP:0000957	Cafe-au-lait spot	1/1	OMIM:243800
197131	UBR1	HP:0000954	Single transverse palmar crease	-	OMIM:243800
197131	UBR1	HP:0000969	Edema	HP:0040283	ORPHA:2315
197131	UBR1	HP:0001597	Abnormal nail morphology	-	OMIM:243800
197131	UBR1	HP:0001596	Alopecia	HP:0040281	ORPHA:2315
197131	UBR1	HP:0000252	Microcephaly	HP:0040283	ORPHA:2315
197131	UBR1	HP:0000252	Microcephaly	-	OMIM:243800
197131	UBR1	HP:0001545	Anteriorly placed anus	-	OMIM:243800
197131	UBR1	HP:0001545	Anteriorly placed anus	HP:0040282	ORPHA:2315
197131	UBR1	HP:0001522	Death in infancy	HP:0040283	ORPHA:2315
197131	UBR1	HP:0001541	Ascites	1/1	OMIM:243800
197131	UBR1	HP:0001508	Failure to thrive	-	OMIM:243800
197131	UBR1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2315
197131	UBR1	HP:0001518	Small for gestational age	1/1	OMIM:243800
197131	UBR1	HP:0001511	Intrauterine growth retardation	-	OMIM:243800
197131	UBR1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2315
197131	UBR1	HP:0002908	Conjugated hyperbilirubinemia	1/1	OMIM:243800
197131	UBR1	HP:0002901	Hypocalcemia	-	OMIM:243800
197131	UBR1	HP:0001696	Situs inversus totalis	-	OMIM:243800
197131	UBR1	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:2315
197131	UBR1	HP:0000343	Long philtrum	1/1	OMIM:243800
197131	UBR1	HP:0001651	Dextrocardia	HP:0040283	ORPHA:2315
197131	UBR1	HP:0001644	Dilated cardiomyopathy	HP:0040283	OMIM:243800
197131	UBR1	HP:0001629	Ventricular septal defect	-	OMIM:243800
197131	UBR1	HP:0001631	Atrial septal defect	-	OMIM:243800
197131	UBR1	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:2315
197131	UBR1	HP:0001738	Exocrine pancreatic insufficiency	-	OMIM:243800
197131	UBR1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:243800
197131	UBR1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:2315
197131	UBR1	HP:0001732	Abnormality of the pancreas	HP:0040281	ORPHA:2315
197131	UBR1	HP:0005288	Abnormal nostril morphology	HP:0040283	ORPHA:2315
197131	UBR1	HP:0000486	Strabismus	-	OMIM:243800
197131	UBR1	HP:0000444	Convex nasal ridge	-	OMIM:243800
197131	UBR1	HP:0001744	Splenomegaly	1/1	OMIM:243800
197131	UBR1	HP:0000430	Underdeveloped nasal alae	-	OMIM:243800
197131	UBR1	HP:0000430	Underdeveloped nasal alae	HP:0040281	ORPHA:2315
197131	UBR1	HP:0005498	Midline skin dimples over anterior/posterior fontanelles	-	OMIM:243800
197131	UBR1	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:243800
197135	PATL2	HP:0008669	Abnormal spermatogenesis	-	ORPHA:488191
197135	PATL2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617743
197135	PATL2	HP:0000147	Polycystic ovaries	-	ORPHA:488191
197135	PATL2	HP:0008222	Female infertility	HP:0040280	ORPHA:488191
197135	PATL2	HP:0008222	Female infertility	4/4	OMIM:617743
197135	PATL2	HP:0020155	Abnormal oocyte morphology	HP:0040283	ORPHA:488191
197135	PATL2	HP:0011462	Young adult onset	4/4	OMIM:617743
197135	PATL2	HP:0031515	Abnormal meiosis	HP:0040280	ORPHA:488191
197135	PATL2	HP:0031516	Oocyte arrest at metaphase I	2/2	OMIM:617743
197135	PATL2	HP:0031516	Oocyte arrest at metaphase I	HP:0040282	ORPHA:488191
197257	LDHD	HP:0001249	Intellectual disability	-	OMIM:245450
197257	LDHD	HP:0000023	Inguinal hernia	-	OMIM:245450
197257	LDHD	HP:0000007	Autosomal recessive inheritance	-	OMIM:245450
197257	LDHD	HP:0003648	Lacticaciduria	-	OMIM:245450
197257	LDHD	HP:6000467	Elevated urine D-lactate level	2/2	OMIM:245450
197257	LDHD	HP:0000252	Microcephaly	-	OMIM:245450
197257	LDHD	HP:0000494	Downslanted palpebral fissures	-	OMIM:245450
197257	LDHD	HP:0000526	Aniridia	-	OMIM:245450
197258	FCSK	HP:0010864	Intellectual disability, severe	2/2	OMIM:618324
197258	FCSK	HP:0001272	Cerebellar atrophy	1/2	OMIM:618324
197258	FCSK	HP:0001274	Agenesis of corpus callosum	1/2	OMIM:618324
197258	FCSK	HP:0001250	Seizure	2/2	OMIM:618324
197258	FCSK	HP:0001252	Hypotonia	2/2	OMIM:618324
197258	FCSK	HP:0001263	Global developmental delay	2/2	OMIM:618324
197258	FCSK	HP:0002540	Inability to walk	2/2	OMIM:618324
197258	FCSK	HP:0000007	Autosomal recessive inheritance	-	OMIM:618324
197258	FCSK	HP:0002020	Gastroesophageal reflux	1/2	OMIM:618324
197258	FCSK	HP:0002093	Respiratory insufficiency	1/2	OMIM:618324
197258	FCSK	HP:0030948	Elevated gamma-glutamyltransferase level	1/2	OMIM:618324
197258	FCSK	HP:0002188	Delayed CNS myelination	1/2	OMIM:618324
197258	FCSK	HP:0100704	Cerebral visual impairment	1/2	OMIM:618324
197258	FCSK	HP:0002205	Recurrent respiratory infections	1/2	OMIM:618324
197258	FCSK	HP:0200134	Epileptic encephalopathy	1/2	OMIM:618324
197258	FCSK	HP:0011968	Feeding difficulties	2/2	OMIM:618324
197258	FCSK	HP:0000639	Nystagmus	1/2	OMIM:618324
197258	FCSK	HP:0000648	Optic atrophy	1/2	OMIM:618324
197258	FCSK	HP:0006970	Periventricular leukomalacia	1/2	OMIM:618324
197258	FCSK	HP:0011463	Childhood onset	2/2	OMIM:618324
197258	FCSK	HP:0034392	Joint contracture	2/2	OMIM:618324
197258	FCSK	HP:0034353	Appendicular spasticity	1/2	OMIM:618324
197258	FCSK	HP:0001622	Premature birth	1/2	OMIM:618324
197258	FCSK	HP:0000486	Strabismus	1/2	OMIM:618324
197258	FCSK	HP:0000505	Visual impairment	2/2	OMIM:618324
197322	ACSF3	HP:0001298	Encephalopathy	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0001250	Seizure	HP:0040282	ORPHA:289504
197322	ACSF3	HP:0001263	Global developmental delay	-	OMIM:614265
197322	ACSF3	HP:0001263	Global developmental delay	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0031064	Impaired continence	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0001332	Dystonia	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0000007	Autosomal recessive inheritance	-	OMIM:614265
197322	ACSF3	HP:0012120	Methylmalonic aciduria	-	OMIM:614265
197322	ACSF3	HP:0012120	Methylmalonic aciduria	HP:0040281	ORPHA:289504
197322	ACSF3	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0002014	Diarrhea	-	OMIM:614265
197322	ACSF3	HP:0002013	Vomiting	-	OMIM:614265
197322	ACSF3	HP:0002013	Vomiting	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0002076	Migraine	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0040288	Nasogastric tube feeding	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0002254	Intermittent diarrhea	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0002354	Memory impairment	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0001944	Dehydration	-	OMIM:614265
197322	ACSF3	HP:0001944	Dehydration	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0001941	Acidosis	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0001993	Ketoacidosis	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0001993	Ketoacidosis	-	OMIM:614265
197322	ACSF3	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0000708	Atypical behavior	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0003215	Dicarboxylic aciduria	HP:0040281	ORPHA:289504
197322	ACSF3	HP:0040145	Dicarboxylic acidemia	HP:0040281	ORPHA:289504
197322	ACSF3	HP:0000252	Microcephaly	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0001508	Failure to thrive	-	OMIM:614265
197322	ACSF3	HP:0001508	Failure to thrive	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0002912	Methylmalonic acidemia	HP:0040281	ORPHA:289504
197322	ACSF3	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0011169	Generalized clonic seizure	HP:0040283	ORPHA:289504
197322	ACSF3	HP:0011169	Generalized clonic seizure	-	OMIM:614265
199221	DZIP1L	HP:0003774	Stage 5 chronic kidney disease	4/7	OMIM:617610
199221	DZIP1L	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0001396	Cholestasis	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0001395	Hepatic fibrosis	HP:0040281	ORPHA:731
199221	DZIP1L	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:731
199221	DZIP1L	HP:0000007	Autosomal recessive inheritance	-	OMIM:617610
199221	DZIP1L	HP:0002612	Congenital hepatic fibrosis	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0002630	Fat malabsorption	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0000113	Polycystic kidney dysplasia	6/7	OMIM:617610
199221	DZIP1L	HP:0000113	Polycystic kidney dysplasia	HP:0040281	ORPHA:731
199221	DZIP1L	HP:0002791	Hypoventilation	HP:0040283	ORPHA:731
199221	DZIP1L	HP:0001433	Hepatosplenomegaly	1/7	OMIM:617610
199221	DZIP1L	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:731
199221	DZIP1L	HP:0000105	Enlarged kidney	2/7	OMIM:617610
199221	DZIP1L	HP:0000105	Enlarged kidney	HP:0040281	ORPHA:731
199221	DZIP1L	HP:0001409	Portal hypertension	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0001405	Periportal fibrosis	HP:0040281	ORPHA:731
199221	DZIP1L	HP:0002089	Pulmonary hypoplasia	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0100543	Cognitive impairment	HP:0040284	ORPHA:731
199221	DZIP1L	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0002040	Esophageal varix	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0100520	Oliguria	HP:0040283	ORPHA:731
199221	DZIP1L	HP:0100512	Decreased circulating vitamin D concentration	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0100513	Decreased circulating vitamin E concentration	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0002108	Spontaneous pneumothorax	HP:0040284	ORPHA:731
199221	DZIP1L	HP:0011892	Decreased circulating vitamin K concentration	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0004719	Hyperechogenic kidneys	7/7	OMIM:617610
199221	DZIP1L	HP:0003593	Infantile onset	1/7	OMIM:617610
199221	DZIP1L	HP:0002243	Protein-losing enteropathy	HP:0040283	ORPHA:731
199221	DZIP1L	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:731
199221	DZIP1L	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0003677	Slowly progressive	-	OMIM:617610
199221	DZIP1L	HP:0003621	Juvenile onset	2/7	OMIM:617610
199221	DZIP1L	HP:0004905	Reduced circulating vitamin A concentration	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0005565	Reduced renal corticomedullary differentiation	3/7	OMIM:617610
199221	DZIP1L	HP:0005565	Reduced renal corticomedullary differentiation	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0001971	Hypersplenism	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0001959	Polydipsia	HP:0040283	ORPHA:731
199221	DZIP1L	HP:0001919	Acute kidney injury	HP:0040283	ORPHA:731
199221	DZIP1L	HP:0011463	Childhood onset	4/7	OMIM:617610
199221	DZIP1L	HP:0000822	Hypertension	HP:0040281	ORPHA:731
199221	DZIP1L	HP:0000822	Hypertension	5/7	OMIM:617610
199221	DZIP1L	HP:0040064	Abnormality of limbs	HP:0040284	ORPHA:731
199221	DZIP1L	HP:0000952	Jaundice	HP:0040283	ORPHA:731
199221	DZIP1L	HP:0002884	Hepatoblastoma	HP:0040283	ORPHA:731
199221	DZIP1L	HP:0012202	Increased serum bile acid concentration	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0002878	Respiratory failure	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0001541	Ascites	HP:0040283	ORPHA:731
199221	DZIP1L	HP:0001510	Growth delay	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0011040	Abnormal intrahepatic bile duct morphology	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0006560	Biliary hyperplasia	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0006532	Recurrent pneumonia	HP:0040283	ORPHA:731
199221	DZIP1L	HP:0002902	Hyponatremia	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0000369	Low-set ears	HP:0040284	ORPHA:731
199221	DZIP1L	HP:0000347	Micrognathia	HP:0040284	ORPHA:731
199221	DZIP1L	HP:0030153	Cholangiocarcinoma	HP:0040284	ORPHA:731
199221	DZIP1L	HP:0030151	Cholangitis	HP:0040283	ORPHA:731
199221	DZIP1L	HP:0001737	Pancreatic cysts	HP:0040284	ORPHA:731
199221	DZIP1L	HP:0000457	Depressed nasal ridge	HP:0040284	ORPHA:731
199221	DZIP1L	HP:0001744	Splenomegaly	HP:0040282	ORPHA:731
199221	DZIP1L	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:731
199223	TTC21A	HP:0000007	Autosomal recessive inheritance	-	OMIM:618429
199223	TTC21A	HP:0032558	Absent sperm flagella	3/3	OMIM:618429
199223	TTC21A	HP:0032559	Short sperm flagella	3/3	OMIM:618429
199223	TTC21A	HP:0032560	Coiled sperm flagella	3/3	OMIM:618429
199223	TTC21A	HP:0033393	Irregularly shaped sperm tail	3/3	OMIM:618429
199223	TTC21A	HP:0011462	Young adult onset	3/3	OMIM:618429
199223	TTC21A	HP:0003251	Male infertility	3/3	OMIM:618429
199223	TTC21A	HP:0012207	Reduced sperm motility	3/3	OMIM:618429
199713	NLRP7	HP:0000007	Autosomal recessive inheritance	-	OMIM:231090
199713	NLRP7	HP:0032468	History of stillbirth	2/5	OMIM:231090
199713	NLRP7	HP:0032192	Hydatidiform mole	5/5	OMIM:231090
199713	NLRP7	HP:0011462	Young adult onset	5/5	OMIM:231090
199713	NLRP7	HP:0005268	Miscarriage	2/5	OMIM:231090
199720	GGN	HP:0000007	Autosomal recessive inheritance	-	OMIM:619826
199720	GGN	HP:0011462	Young adult onset	2/2	OMIM:619826
199720	GGN	HP:0003251	Male infertility	3/3	OMIM:619826
199720	GGN	HP:0012205	Globozoospermia	3/3	OMIM:619826
199857	ALG14	HP:0001166	Arachnodactyly	1/5	OMIM:619036
199857	ALG14	HP:0002460	Distal muscle weakness	HP:0040284	ORPHA:353327
199857	ALG14	HP:0010864	Intellectual disability, severe	2/2	OMIM:619031
199857	ALG14	HP:0010851	EEG with burst suppression	3/5	OMIM:619036
199857	ALG14	HP:0002421	Poor head control	HP:0040283	ORPHA:353327
199857	ALG14	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:353327
199857	ALG14	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:353327
199857	ALG14	HP:0001270	Motor delay	HP:0040282	ORPHA:353327
199857	ALG14	HP:0001288	Gait disturbance	-	OMIM:616227
199857	ALG14	HP:0001288	Gait disturbance	HP:0040283	ORPHA:353327
199857	ALG14	HP:0001284	Areflexia	HP:0040282	ORPHA:353327
199857	ALG14	HP:0001250	Seizure	2/2	OMIM:619031
199857	ALG14	HP:0001263	Global developmental delay	2/2	OMIM:619031
199857	ALG14	HP:0002521	Hypsarrhythmia	2/5	OMIM:619036
199857	ALG14	HP:0002515	Waddling gait	HP:0040283	ORPHA:353327
199857	ALG14	HP:0003803	Type 1 muscle fiber predominance	HP:0040283	ORPHA:353327
199857	ALG14	HP:0001371	Flexion contracture	HP:0040283	ORPHA:353327
199857	ALG14	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:353327
199857	ALG14	HP:0008872	Feeding difficulties in infancy	2/5	OMIM:619036
199857	ALG14	HP:0001344	Absent speech	2/2	OMIM:619031
199857	ALG14	HP:0000007	Autosomal recessive inheritance	-	OMIM:616227
199857	ALG14	HP:0000007	Autosomal recessive inheritance	-	OMIM:619031
199857	ALG14	HP:0000007	Autosomal recessive inheritance	-	OMIM:619036
199857	ALG14	HP:0002650	Scoliosis	HP:0040283	ORPHA:353327
199857	ALG14	HP:0002643	Neonatal respiratory distress	3/5	OMIM:619036
199857	ALG14	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:353327
199857	ALG14	HP:0011807	Type 1 muscle fiber atrophy	2/5	OMIM:619036
199857	ALG14	HP:0003394	Muscle spasm	HP:0040283	ORPHA:353327
199857	ALG14	HP:0003391	Gowers sign	HP:0040283	ORPHA:353327
199857	ALG14	HP:0002059	Cerebral atrophy	5/5	OMIM:619036
199857	ALG14	HP:0003388	Easy fatigability	HP:0040283	ORPHA:353327
199857	ALG14	HP:0003473	Fatigable weakness	2/2	OMIM:616227
199857	ALG14	HP:0003473	Fatigable weakness	HP:0040282	ORPHA:353327
199857	ALG14	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	1/5	OMIM:619036
199857	ALG14	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	5/5	OMIM:616227
199857	ALG14	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040282	ORPHA:353327
199857	ALG14	HP:0010602	Type 2 muscle fiber predominance	2/5	OMIM:619036
199857	ALG14	HP:0002188	Delayed CNS myelination	2/2	OMIM:619031
199857	ALG14	HP:0002188	Delayed CNS myelination	4/5	OMIM:619036
199857	ALG14	HP:0010516	Thymus hyperplasia	1/4	OMIM:619036
199857	ALG14	HP:0003593	Infantile onset	2/2	OMIM:619031
199857	ALG14	HP:0100716	Self-injurious behavior	2/2	OMIM:619031
199857	ALG14	HP:0003554	Type 2 muscle fiber atrophy	2/5	OMIM:619036
199857	ALG14	HP:0003551	Difficulty climbing stairs	HP:0040283	ORPHA:353327
199857	ALG14	HP:0010628	Facial palsy	HP:0040283	ORPHA:353327
199857	ALG14	HP:0003691	Scapular winging	HP:0040283	ORPHA:353327
199857	ALG14	HP:0002359	Frequent falls	HP:0040283	ORPHA:353327
199857	ALG14	HP:0002359	Frequent falls	-	OMIM:616227
199857	ALG14	HP:0003677	Slowly progressive	-	OMIM:616227
199857	ALG14	HP:0006829	Severe muscular hypotonia	5/5	OMIM:619036
199857	ALG14	HP:0009046	Difficulty running	HP:0040283	ORPHA:353327
199857	ALG14	HP:0009028	Generalized weakness of limb muscles	HP:0040283	ORPHA:353327
199857	ALG14	HP:0000752	Hyperactivity	2/2	OMIM:619031
199857	ALG14	HP:0000739	Anxiety	2/2	OMIM:619031
199857	ALG14	HP:0000718	Aggressive behavior	2/2	OMIM:619031
199857	ALG14	HP:0000717	Autism	2/2	OMIM:619031
199857	ALG14	HP:0030799	Scaphocephaly	2/5	OMIM:619036
199857	ALG14	HP:0003198	Myopathy	HP:0040282	ORPHA:353327
199857	ALG14	HP:0100301	Muscle fiber tubular inclusions	HP:0040282	ORPHA:353327
199857	ALG14	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:353327
199857	ALG14	HP:0003200	Ragged-red muscle fibers	HP:0040283	ORPHA:353327
199857	ALG14	HP:0010310	Chylothorax	1/5	OMIM:619036
199857	ALG14	HP:0000280	Coarse facial features	2/2	OMIM:619031
199857	ALG14	HP:0000262	Turricephaly	2/5	OMIM:619036
199857	ALG14	HP:0002828	Multiple joint contractures	6/7	OMIM:616227
199857	ALG14	HP:0002803	Congenital contracture	3/5	OMIM:619036
199857	ALG14	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:353327
199857	ALG14	HP:0000218	High palate	HP:0040282	ORPHA:353327
199857	ALG14	HP:0001561	Polyhydramnios	2/5	OMIM:619036
199857	ALG14	HP:0001558	Decreased fetal movement	5/5	OMIM:619036
199857	ALG14	HP:0001522	Death in infancy	5/5	OMIM:619036
199857	ALG14	HP:0030205	Increased jitter at single fiber EMG	4/4	OMIM:616227
199857	ALG14	HP:0030205	Increased jitter at single fiber EMG	HP:0040282	ORPHA:353327
199857	ALG14	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	HP:0040282	ORPHA:353327
199857	ALG14	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	0/2	OMIM:616227
199857	ALG14	HP:0002938	Lumbar hyperlordosis	HP:0040283	ORPHA:353327
199857	ALG14	HP:0030191	Abnormal peripheral nervous system synaptic transmission	HP:0040282	ORPHA:353327
199857	ALG14	HP:0000347	Micrognathia	1/5	OMIM:619036
199857	ALG14	HP:0000303	Mandibular prognathia	2/2	OMIM:619031
199857	ALG14	HP:0006610	Wide intermamillary distance	1/5	OMIM:619036
199857	ALG14	HP:0012469	Infantile spasms	2/2	OMIM:619031
199857	ALG14	HP:0001763	Pes planus	HP:0040282	ORPHA:353327
199857	ALG14	HP:0001762	Talipes equinovarus	1/5	OMIM:619036
199857	ALG14	HP:0000508	Ptosis	1/7	OMIM:616227
199857	ALG14	HP:0000508	Ptosis	HP:0040283	ORPHA:353327
199857	ALG14	HP:0000581	Blepharophimosis	2/5	OMIM:619036
200162	SPAG17	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
200162	SPAG17	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
200162	SPAG17	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
200162	SPAG17	HP:0000007	Autosomal recessive inheritance	-	OMIM:619380
200162	SPAG17	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
200162	SPAG17	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
200162	SPAG17	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
200162	SPAG17	HP:0011462	Young adult onset	2/2	OMIM:619380
200162	SPAG17	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
200162	SPAG17	HP:0003251	Male infertility	2/2	OMIM:619380
200162	SPAG17	HP:0012207	Reduced sperm motility	2/2	OMIM:619380
200205	IBA57	HP:0002490	Increased CSF lactate	1/1	OMIM:615330
200205	IBA57	HP:0001123	Visual field defect	HP:0040282	ORPHA:468661
200205	IBA57	HP:0001123	Visual field defect	-	OMIM:616451
200205	IBA57	HP:0002415	Leukodystrophy	-	OMIM:615330
200205	IBA57	HP:0001298	Encephalopathy	-	OMIM:615330
200205	IBA57	HP:0001272	Cerebellar atrophy	HP:0040284	ORPHA:468661
200205	IBA57	HP:0001288	Gait disturbance	HP:0040282	ORPHA:468661
200205	IBA57	HP:0001284	Areflexia	-	OMIM:616451
200205	IBA57	HP:0001250	Seizure	HP:0040284	OMIM:615330
200205	IBA57	HP:0001252	Hypotonia	2/2	OMIM:615330
200205	IBA57	HP:0001258	Spastic paraplegia	-	OMIM:616451
200205	IBA57	HP:0002510	Spastic tetraplegia	-	OMIM:615330
200205	IBA57	HP:0500230	Increased CSF glycine concentration	2/2	OMIM:615330
200205	IBA57	HP:0001347	Hyperreflexia	-	OMIM:616451
200205	IBA57	HP:0032480	Beta-aminoisobutyric aciduria	1/1	OMIM:615330
200205	IBA57	HP:0000007	Autosomal recessive inheritance	-	OMIM:616451
200205	IBA57	HP:0000007	Autosomal recessive inheritance	-	OMIM:615330
200205	IBA57	HP:6000830	Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts	-	OMIM:615330
200205	IBA57	HP:0003324	Generalized muscle weakness	1/2	OMIM:615330
200205	IBA57	HP:0100543	Cognitive impairment	-	OMIM:615330
200205	IBA57	HP:0002093	Respiratory insufficiency	-	OMIM:615330
200205	IBA57	HP:0002079	Hypoplasia of the corpus callosum	HP:0040284	ORPHA:468661
200205	IBA57	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:615330
200205	IBA57	HP:0002059	Cerebral atrophy	1/1	OMIM:615330
200205	IBA57	HP:0003477	Peripheral axonal neuropathy	HP:0040281	ORPHA:468661
200205	IBA57	HP:0003477	Peripheral axonal neuropathy	-	OMIM:616451
200205	IBA57	HP:0003487	Babinski sign	-	OMIM:616451
200205	IBA57	HP:0003487	Babinski sign	HP:0040283	ORPHA:468661
200205	IBA57	HP:0002154	Hyperglycinemia	1/1	OMIM:615330
200205	IBA57	HP:0002119	Ventriculomegaly	2/2	OMIM:615330
200205	IBA57	HP:0002126	Polymicrogyria	1/1	OMIM:615330
200205	IBA57	HP:0003445	EMG: neuropathic changes	HP:0040282	ORPHA:468661
200205	IBA57	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040282	ORPHA:468661
200205	IBA57	HP:0011923	Decreased activity of mitochondrial complex I	2/2	OMIM:615330
200205	IBA57	HP:0003577	Congenital onset	2/2	OMIM:615330
200205	IBA57	HP:0007020	Progressive spastic paraplegia	HP:0040281	ORPHA:468661
200205	IBA57	HP:0011968	Feeding difficulties	2/2	OMIM:615330
200205	IBA57	HP:0008314	Decreased activity of mitochondrial complex II	HP:0040282	ORPHA:468661
200205	IBA57	HP:0008314	Decreased activity of mitochondrial complex II	2/2	OMIM:615330
200205	IBA57	HP:0007083	Hyperactive patellar reflex	HP:0040282	ORPHA:468661
200205	IBA57	HP:0007067	Distal peripheral sensory neuropathy	HP:0040282	ORPHA:468661
200205	IBA57	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:468661
200205	IBA57	HP:0002376	Developmental regression	-	OMIM:615330
200205	IBA57	HP:0003676	Progressive	-	OMIM:615330
200205	IBA57	HP:0003677	Slowly progressive	-	OMIM:616451
200205	IBA57	HP:0003621	Juvenile onset	-	OMIM:616451
200205	IBA57	HP:0006829	Severe muscular hypotonia	-	OMIM:615330
200205	IBA57	HP:0009072	Decreased Achilles reflex	HP:0040282	ORPHA:468661
200205	IBA57	HP:0000639	Nystagmus	-	OMIM:615330
200205	IBA57	HP:0000648	Optic atrophy	-	OMIM:616451
200205	IBA57	HP:0000648	Optic atrophy	HP:0040283	ORPHA:468661
200205	IBA57	HP:0000648	Optic atrophy	-	OMIM:615330
200205	IBA57	HP:0001942	Metabolic acidosis	-	OMIM:615330
200205	IBA57	HP:0001954	Recurrent fever	-	OMIM:615330
200205	IBA57	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:468661
200205	IBA57	HP:0000737	Irritability	-	OMIM:615330
200205	IBA57	HP:0012706	Elevated brain choline level by MRS	1/1	OMIM:615330
200205	IBA57	HP:0012762	Cerebral white matter atrophy	HP:0040284	ORPHA:468661
200205	IBA57	HP:0003128	Lactic acidosis	1/1	OMIM:615330
200205	IBA57	HP:0000278	Retrognathia	1/2	OMIM:615330
200205	IBA57	HP:0002804	Arthrogryposis multiplex congenita	2/2	OMIM:615330
200205	IBA57	HP:0000252	Microcephaly	2/2	OMIM:615330
200205	IBA57	HP:0032653	Elevated lactate:pyruvate ratio	1/1	OMIM:615330
200205	IBA57	HP:0002878	Respiratory failure	-	OMIM:615330
200205	IBA57	HP:0000218	High palate	1/2	OMIM:615330
200205	IBA57	HP:0001561	Polyhydramnios	2/2	OMIM:615330
200205	IBA57	HP:0001511	Intrauterine growth retardation	2/2	OMIM:615330
200205	IBA57	HP:0002936	Distal sensory impairment	-	OMIM:616451
200205	IBA57	HP:0006610	Wide intermamillary distance	1/2	OMIM:615330
200205	IBA57	HP:0001761	Pes cavus	HP:0040282	ORPHA:468661
200205	IBA57	HP:0000505	Visual impairment	-	OMIM:616451
200205	IBA57	HP:0000505	Visual impairment	HP:0040282	ORPHA:468661
200205	IBA57	HP:0000505	Visual impairment	-	OMIM:615330
200373	CFAP221	HP:0010959	Congenital pulmonary airway malformation	-	OMIM:279000
200373	CFAP221	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
200373	CFAP221	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
200373	CFAP221	HP:0001217	Clubbing	HP:0040283	ORPHA:244
200373	CFAP221	HP:0000027	Azoospermia	-	OMIM:279000
200373	CFAP221	HP:0000007	Autosomal recessive inheritance	-	OMIM:279000
200373	CFAP221	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
200373	CFAP221	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
200373	CFAP221	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
200373	CFAP221	HP:0031245	Productive cough	HP:0040282	ORPHA:244
200373	CFAP221	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
200373	CFAP221	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
200373	CFAP221	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
200373	CFAP221	HP:0002110	Bronchiectasis	-	OMIM:279000
200373	CFAP221	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
200373	CFAP221	HP:0008222	Female infertility	HP:0040283	ORPHA:244
200373	CFAP221	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
200373	CFAP221	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
200373	CFAP221	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
200373	CFAP221	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
200373	CFAP221	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
200373	CFAP221	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
200373	CFAP221	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
200373	CFAP221	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
200373	CFAP221	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
200373	CFAP221	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
200373	CFAP221	HP:0030828	Wheezing	HP:0040283	ORPHA:244
200373	CFAP221	HP:0003251	Male infertility	HP:0040282	ORPHA:244
200373	CFAP221	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
200373	CFAP221	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
200373	CFAP221	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
200373	CFAP221	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
200373	CFAP221	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
200373	CFAP221	HP:0002837	Recurrent bronchitis	-	OMIM:279000
200373	CFAP221	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
200373	CFAP221	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
200373	CFAP221	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
200373	CFAP221	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
200373	CFAP221	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
200373	CFAP221	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
200373	CFAP221	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
200373	CFAP221	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
200373	CFAP221	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
200373	CFAP221	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
200373	CFAP221	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
200373	CFAP221	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
200373	CFAP221	HP:0001746	Asplenia	HP:0040284	ORPHA:244
200373	CFAP221	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
200373	CFAP221	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
200373	CFAP221	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
200373	CFAP221	HP:0005425	Recurrent sinopulmonary infections	-	OMIM:279000
200373	CFAP221	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
200373	CFAP221	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
200403	VWA3B	HP:0007256	Abnormal pyramidal sign	-	OMIM:616948
200403	VWA3B	HP:0001272	Cerebellar atrophy	-	OMIM:616948
200403	VWA3B	HP:0001251	Ataxia	-	OMIM:616948
200403	VWA3B	HP:0001249	Intellectual disability	-	OMIM:616948
200403	VWA3B	HP:0001260	Dysarthria	-	OMIM:616948
200403	VWA3B	HP:0001347	Hyperreflexia	-	OMIM:616948
200403	VWA3B	HP:0000007	Autosomal recessive inheritance	-	OMIM:616948
200403	VWA3B	HP:0001310	Dysmetria	-	OMIM:616948
200403	VWA3B	HP:0002080	Intention tremor	-	OMIM:616948
200403	VWA3B	HP:0002061	Lower limb spasticity	-	OMIM:616948
200403	VWA3B	HP:0002078	Truncal ataxia	-	OMIM:616948
200403	VWA3B	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:616948
200403	VWA3B	HP:0003677	Slowly progressive	-	OMIM:616948
200403	VWA3B	HP:0002317	Unsteady gait	-	OMIM:616948
200403	VWA3B	HP:0000639	Nystagmus	-	OMIM:616948
200424	TET3	HP:0010862	Delayed fine motor development	9/10	OMIM:618798
200424	TET3	HP:0001290	Generalized hypotonia	9/12	OMIM:618798
200424	TET3	HP:0001250	Seizure	4/12	OMIM:618798
200424	TET3	HP:0001249	Intellectual disability	6/7	OMIM:618798
200424	TET3	HP:0001263	Global developmental delay	11/11	OMIM:618798
200424	TET3	HP:0001385	Hip dysplasia	1/7	OMIM:618798
200424	TET3	HP:0001382	Joint hypermobility	1/7	OMIM:618798
200424	TET3	HP:0008872	Feeding difficulties in infancy	4/7	OMIM:618798
200424	TET3	HP:0000007	Autosomal recessive inheritance	-	OMIM:618798
200424	TET3	HP:0000006	Autosomal dominant inheritance	-	OMIM:618798
200424	TET3	HP:0000194	Open mouth	4/8	OMIM:618798
200424	TET3	HP:0007678	Lacrimal duct stenosis	1/10	OMIM:618798
200424	TET3	HP:0002119	Ventriculomegaly	1/8	OMIM:618798
200424	TET3	HP:0002194	Delayed gross motor development	10/10	OMIM:618798
200424	TET3	HP:0007018	Attention deficit hyperactivity disorder	3/6	OMIM:618798
200424	TET3	HP:0002353	EEG abnormality	4/8	OMIM:618798
200424	TET3	HP:0000639	Nystagmus	2/10	OMIM:618798
200424	TET3	HP:0006970	Periventricular leukomalacia	1/8	OMIM:618798
200424	TET3	HP:0005616	Accelerated skeletal maturation	1/7	OMIM:618798
200424	TET3	HP:0000739	Anxiety	3/6	OMIM:618798
200424	TET3	HP:0000750	Delayed speech and language development	9/9	OMIM:618798
200424	TET3	HP:0000716	Depression	1/6	OMIM:618798
200424	TET3	HP:0000729	Autistic behavior	5/6	OMIM:618798
200424	TET3	HP:0012760	Reduced social responsiveness	6/6	OMIM:618798
200424	TET3	HP:0000297	Facial hypotonia	4/8	OMIM:618798
200424	TET3	HP:0000256	Macrocephaly	2/11	OMIM:618798
200424	TET3	HP:0000276	Long face	5/10	OMIM:618798
200424	TET3	HP:0000252	Microcephaly	1/11	OMIM:618798
200424	TET3	HP:0000248	Brachycephaly	4/8	OMIM:618798
200424	TET3	HP:0000218	High palate	3/8	OMIM:618798
200424	TET3	HP:0000343	Long philtrum	4/9	OMIM:618798
200424	TET3	HP:0000337	Broad forehead	-	OMIM:618798
200424	TET3	HP:0000348	High forehead	-	OMIM:618798
200424	TET3	HP:0001629	Ventricular septal defect	1/7	OMIM:618798
200424	TET3	HP:0001640	Cardiomegaly	1/7	OMIM:618798
200424	TET3	HP:0000486	Strabismus	1/10	OMIM:618798
200424	TET3	HP:0001763	Pes planus	1/7	OMIM:618798
200424	TET3	HP:0000411	Protruding ear	4/8	OMIM:618798
200424	TET3	HP:0000508	Ptosis	1/10	OMIM:618798
200424	TET3	HP:0012510	Extra-axial cerebrospinal fluid accumulation	2/8	OMIM:618798
200576	PIKFYVE	HP:0000006	Autosomal dominant inheritance	-	OMIM:121850
200576	PIKFYVE	HP:0000613	Photophobia	-	OMIM:121850
200576	PIKFYVE	HP:0007962	Speckled corneal dystrophy	-	OMIM:121850
200734	SPRED2	HP:0001156	Brachydactyly	HP:0040283	ORPHA:648
200734	SPRED2	HP:0010946	Dilatation of the renal pelvis	HP:0040283	ORPHA:648
200734	SPRED2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
200734	SPRED2	HP:0001293	Cranial nerve compression	-	OMIM:131300
200734	SPRED2	HP:0001256	Intellectual disability, mild	4/4	OMIM:619745
200734	SPRED2	HP:0001252	Hypotonia	HP:0040282	ORPHA:648
200734	SPRED2	HP:0001252	Hypotonia	3/4	OMIM:619745
200734	SPRED2	HP:0001252	Hypotonia	2/7	OMIM:615777
200734	SPRED2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:648
200734	SPRED2	HP:0001249	Intellectual disability	5/7	OMIM:615777
200734	SPRED2	HP:0001260	Dysarthria	HP:0040281	ORPHA:648
200734	SPRED2	HP:0001263	Global developmental delay	3/4	OMIM:619745
200734	SPRED2	HP:0001263	Global developmental delay	-	OMIM:615777
200734	SPRED2	HP:0002515	Waddling gait	54/102	OMIM:131300
200734	SPRED2	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:648
200734	SPRED2	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:648
200734	SPRED2	HP:0001377	Limited elbow extension	1/4	OMIM:619745
200734	SPRED2	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:648
200734	SPRED2	HP:0001382	Joint hypermobility	-	OMIM:615777
200734	SPRED2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
200734	SPRED2	HP:0000028	Cryptorchidism	1/2	OMIM:619745
200734	SPRED2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:648
200734	SPRED2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
200734	SPRED2	HP:0008897	Postnatal growth retardation	HP:0040283	ORPHA:648
200734	SPRED2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:648
200734	SPRED2	HP:0006191	Deep palmar crease	2/4	OMIM:619745
200734	SPRED2	HP:0007477	Abnormal dermatoglyphics	HP:0040282	ORPHA:648
200734	SPRED2	HP:0001328	Specific learning disability	HP:0040283	ORPHA:648
200734	SPRED2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
200734	SPRED2	HP:0001324	Muscle weakness	HP:0040281	ORPHA:648
200734	SPRED2	HP:0001324	Muscle weakness	40/96	OMIM:131300
200734	SPRED2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
200734	SPRED2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
200734	SPRED2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619745
200734	SPRED2	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
200734	SPRED2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
200734	SPRED2	HP:0002650	Scoliosis	HP:0040282	ORPHA:648
200734	SPRED2	HP:0002650	Scoliosis	12/14	OMIM:131300
200734	SPRED2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
200734	SPRED2	HP:0002619	Varicose veins	-	OMIM:153400
200734	SPRED2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
200734	SPRED2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
200734	SPRED2	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:648
200734	SPRED2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
200734	SPRED2	HP:0000175	Cleft palate	5/39	OMIM:153400
200734	SPRED2	HP:0000175	Cleft palate	2/7	OMIM:615777
200734	SPRED2	HP:0000154	Wide mouth	1/4	OMIM:619745
200734	SPRED2	HP:0007678	Lacrimal duct stenosis	1/4	OMIM:619745
200734	SPRED2	HP:0002705	High, narrow palate	1/4	OMIM:619745
200734	SPRED2	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:648
200734	SPRED2	HP:0011800	Midface retrusion	HP:0040281	ORPHA:648
200734	SPRED2	HP:0003388	Easy fatigability	36/76	OMIM:131300
200734	SPRED2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
200734	SPRED2	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:648
200734	SPRED2	HP:0002162	Low posterior hairline	4/4	OMIM:619745
200734	SPRED2	HP:0002162	Low posterior hairline	HP:0040282	ORPHA:648
200734	SPRED2	HP:0011869	Abnormal platelet function	HP:0040282	ORPHA:648
200734	SPRED2	HP:0003593	Infantile onset	1/3	OMIM:619745
200734	SPRED2	HP:0003577	Congenital onset	2/3	OMIM:619745
200734	SPRED2	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:648
200734	SPRED2	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
200734	SPRED2	HP:0002212	Curly hair	1/4	OMIM:619745
200734	SPRED2	HP:0002208	Coarse hair	HP:0040282	ORPHA:648
200734	SPRED2	HP:0100763	Abnormality of the lymphatic system	HP:0040282	ORPHA:648
200734	SPRED2	HP:0009743	Distichiasis	42/42	OMIM:153400
200734	SPRED2	HP:0003510	Severe short stature	7/7	OMIM:615777
200734	SPRED2	HP:0003691	Scapular winging	1/4	OMIM:619745
200734	SPRED2	HP:0001004	Lymphedema	HP:0040283	ORPHA:648
200734	SPRED2	HP:0001004	Lymphedema	-	OMIM:153400
200734	SPRED2	HP:0002315	Headache	-	OMIM:131300
200734	SPRED2	HP:0004976	Knee dislocation	6/7	OMIM:615777
200734	SPRED2	HP:0100658	Cellulitis	2/6	OMIM:153400
200734	SPRED2	HP:0100625	Enlarged thorax	HP:0040281	ORPHA:648
200734	SPRED2	HP:0009803	Short phalanx of finger	-	OMIM:615777
200734	SPRED2	HP:0009763	Limb pain	63/92	OMIM:131300
200734	SPRED2	HP:0003621	Juvenile onset	-	OMIM:131300
200734	SPRED2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
200734	SPRED2	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:648
200734	SPRED2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
200734	SPRED2	HP:0000639	Nystagmus	HP:0040283	ORPHA:648
200734	SPRED2	HP:0000635	Blue irides	HP:0040282	ORPHA:648
200734	SPRED2	HP:6001056	Out-toeing	-	OMIM:131300
200734	SPRED2	HP:0000651	Diplopia	-	OMIM:131300
200734	SPRED2	HP:0000613	Photophobia	10/49	OMIM:153400
200734	SPRED2	HP:0001956	Truncal obesity	2/7	OMIM:615777
200734	SPRED2	HP:0001928	Abnormality of coagulation	HP:0040282	ORPHA:648
200734	SPRED2	HP:0001903	Anemia	HP:0040283	OMIM:131300
200734	SPRED2	HP:0010049	Short metacarpal	-	OMIM:615777
200734	SPRED2	HP:0011381	Aplasia of the semicircular canal	HP:0040283	ORPHA:648
200734	SPRED2	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
200734	SPRED2	HP:0011362	Abnormal hair quantity	HP:0040282	ORPHA:648
200734	SPRED2	HP:0000678	Dental crowding	-	OMIM:615777
200734	SPRED2	HP:0000656	Ectropion	2/43	OMIM:153400
200734	SPRED2	HP:0000670	Carious teeth	-	OMIM:131300
200734	SPRED2	HP:0011304	Broad thumb	2/7	OMIM:615777
200734	SPRED2	HP:0000668	Hypodontia	-	OMIM:615777
200734	SPRED2	HP:0000664	Synophrys	-	OMIM:615777
200734	SPRED2	HP:0004322	Short stature	HP:0040281	ORPHA:648
200734	SPRED2	HP:0004322	Short stature	2/4	OMIM:619745
200734	SPRED2	HP:0006956	Lateral ventricle dilatation	1/4	OMIM:619745
200734	SPRED2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:648
200734	SPRED2	HP:0004396	Poor appetite	-	OMIM:131300
200734	SPRED2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
200734	SPRED2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
200734	SPRED2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
200734	SPRED2	HP:0003011	Abnormality of the musculature	-	OMIM:153400
200734	SPRED2	HP:0003026	Short long bone	7/7	OMIM:615777
200734	SPRED2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
200734	SPRED2	HP:0000767	Pectus excavatum	4/4	OMIM:619745
200734	SPRED2	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:648
200734	SPRED2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
200734	SPRED2	HP:0000768	Pectus carinatum	1/4	OMIM:619745
200734	SPRED2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
200734	SPRED2	HP:0000768	Pectus carinatum	HP:0040281	ORPHA:648
200734	SPRED2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
200734	SPRED2	HP:0000750	Delayed speech and language development	-	OMIM:615777
200734	SPRED2	HP:0011461	Fetal onset	7/7	OMIM:615777
200734	SPRED2	HP:0000774	Narrow chest	2/7	OMIM:615777
200734	SPRED2	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:648
200734	SPRED2	HP:0003115	Abnormal EKG	HP:0040281	ORPHA:648
200734	SPRED2	HP:0004415	Pulmonary artery stenosis	HP:0040281	ORPHA:648
200734	SPRED2	HP:0000926	Platyspondyly	1/7	OMIM:615777
200734	SPRED2	HP:0003180	Flat acetabular roof	-	OMIM:615777
200734	SPRED2	HP:0004482	Relative macrocephaly	-	OMIM:615777
200734	SPRED2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
200734	SPRED2	HP:0012804	Corneal ulceration	-	OMIM:153400
200734	SPRED2	HP:0000823	Delayed puberty	-	OMIM:131300
200734	SPRED2	HP:0000894	Short clavicles	-	OMIM:615777
200734	SPRED2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
200734	SPRED2	HP:0045075	Sparse eyebrow	1/4	OMIM:619745
200734	SPRED2	HP:0000995	Melanocytic nevus	HP:0040283	ORPHA:648
200734	SPRED2	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0040281	ORPHA:648
200734	SPRED2	HP:0010310	Chylothorax	1/6	OMIM:153400
200734	SPRED2	HP:0000975	Hyperhidrosis	1/4	OMIM:619745
200734	SPRED2	HP:0000978	Bruising susceptibility	1/4	OMIM:619745
200734	SPRED2	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:648
200734	SPRED2	HP:0000958	Dry skin	1/4	OMIM:619745
200734	SPRED2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
200734	SPRED2	HP:0000938	Osteopenia	HP:0040283	ORPHA:648
200734	SPRED2	HP:0008081	Pes valgus	1/4	OMIM:619745
200734	SPRED2	HP:0008070	Sparse hair	1/4	OMIM:619745
200734	SPRED2	HP:0011675	Arrhythmia	-	OMIM:153400
200734	SPRED2	HP:0011675	Arrhythmia	HP:0040282	ORPHA:648
200734	SPRED2	HP:0000286	Epicanthus	2/4	OMIM:619745
200734	SPRED2	HP:0000286	Epicanthus	1/7	OMIM:615777
200734	SPRED2	HP:0000280	Coarse facial features	2/4	OMIM:619745
200734	SPRED2	HP:0000280	Coarse facial features	2/7	OMIM:615777
200734	SPRED2	HP:0002827	Hip dislocation	3/7	OMIM:615777
200734	SPRED2	HP:0030084	Clinodactyly	1/4	OMIM:619745
200734	SPRED2	HP:0002808	Kyphosis	2/4	OMIM:619745
200734	SPRED2	HP:0002808	Kyphosis	2/5	OMIM:153400
200734	SPRED2	HP:0000252	Microcephaly	-	OMIM:615777
200734	SPRED2	HP:0012209	Juvenile myelomonocytic leukemia	HP:0040283	ORPHA:648
200734	SPRED2	HP:0000218	High palate	HP:0040281	ORPHA:648
200734	SPRED2	HP:0001561	Polyhydramnios	2/4	OMIM:619745
200734	SPRED2	HP:0002857	Genu valgum	-	OMIM:131300
200734	SPRED2	HP:0001533	Slender build	-	OMIM:131300
200734	SPRED2	HP:0000204	Cleft upper lip	-	OMIM:153400
200734	SPRED2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
200734	SPRED2	HP:0007807	Optic nerve compression	-	OMIM:131300
200734	SPRED2	HP:0012368	Flat face	7/7	OMIM:615777
200734	SPRED2	HP:0000391	Thickened helices	HP:0040281	ORPHA:648
200734	SPRED2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
200734	SPRED2	HP:0000365	Hearing impairment	10/67	OMIM:131300
200734	SPRED2	HP:0000358	Posteriorly rotated ears	4/4	OMIM:619745
200734	SPRED2	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:648
200734	SPRED2	HP:0000369	Low-set ears	4/4	OMIM:619745
200734	SPRED2	HP:0000341	Narrow forehead	4/4	OMIM:619745
200734	SPRED2	HP:0000343	Long philtrum	1/4	OMIM:619745
200734	SPRED2	HP:0000343	Long philtrum	1/7	OMIM:615777
200734	SPRED2	HP:0011001	Increased bone mineral density	-	OMIM:131300
200734	SPRED2	HP:0001680	Coarctation of aorta	HP:0040283	ORPHA:648
200734	SPRED2	HP:0000348	High forehead	HP:0040281	ORPHA:648
200734	SPRED2	HP:0000347	Micrognathia	2/5	OMIM:153400
200734	SPRED2	HP:0000347	Micrognathia	HP:0040281	ORPHA:648
200734	SPRED2	HP:0000316	Hypertelorism	3/4	OMIM:619745
200734	SPRED2	HP:0000316	Hypertelorism	HP:0040281	ORPHA:648
200734	SPRED2	HP:0001643	Patent ductus arteriosus	HP:0040284	ORPHA:648
200734	SPRED2	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
200734	SPRED2	HP:0000311	Round face	2/7	OMIM:615777
200734	SPRED2	HP:0001642	Pulmonic stenosis	2/4	OMIM:619745
200734	SPRED2	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:648
200734	SPRED2	HP:0001659	Aortic regurgitation	1/4	OMIM:619745
200734	SPRED2	HP:0000325	Triangular face	2/4	OMIM:619745
200734	SPRED2	HP:0000325	Triangular face	HP:0040281	ORPHA:648
200734	SPRED2	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
200734	SPRED2	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:648
200734	SPRED2	HP:0002970	Genu varum	-	OMIM:615777
200734	SPRED2	HP:0001639	Hypertrophic cardiomyopathy	3/4	OMIM:619745
200734	SPRED2	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:648
200734	SPRED2	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
200734	SPRED2	HP:0000307	Pointed chin	1/4	OMIM:619745
200734	SPRED2	HP:0002967	Cubitus valgus	2/4	OMIM:619745
200734	SPRED2	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:648
200734	SPRED2	HP:0000303	Mandibular prognathia	-	OMIM:131300
200734	SPRED2	HP:0001634	Mitral valve prolapse	1/4	OMIM:619745
200734	SPRED2	HP:0006610	Wide intermamillary distance	HP:0040281	ORPHA:648
200734	SPRED2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:648
200734	SPRED2	HP:0005272	Prominent nasolabial fold	2/4	OMIM:619745
200734	SPRED2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
200734	SPRED2	HP:0000486	Strabismus	HP:0040282	ORPHA:648
200734	SPRED2	HP:0012471	Thick vermilion border	1/4	OMIM:619745
200734	SPRED2	HP:0000476	Cystic hygroma	HP:0040281	ORPHA:648
200734	SPRED2	HP:0000476	Cystic hygroma	2/43	OMIM:153400
200734	SPRED2	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
200734	SPRED2	HP:0000494	Downslanted palpebral fissures	3/4	OMIM:619745
200734	SPRED2	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:648
200734	SPRED2	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
200734	SPRED2	HP:0000474	Thickened nuchal skin fold	HP:0040281	ORPHA:648
200734	SPRED2	HP:0000470	Short neck	4/4	OMIM:619745
200734	SPRED2	HP:0000470	Short neck	1/7	OMIM:615777
200734	SPRED2	HP:0000465	Webbed neck	4/4	OMIM:619745
200734	SPRED2	HP:0000465	Webbed neck	HP:0040281	ORPHA:648
200734	SPRED2	HP:0000465	Webbed neck	6/43	OMIM:153400
200734	SPRED2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
200734	SPRED2	HP:0001763	Pes planus	1/4	OMIM:619745
200734	SPRED2	HP:0001763	Pes planus	1/7	OMIM:615777
200734	SPRED2	HP:0001743	Abnormality of the spleen	HP:0040282	ORPHA:648
200734	SPRED2	HP:0000426	Prominent nasal bridge	4/4	OMIM:619745
200734	SPRED2	HP:0001840	Metatarsus adductus	-	OMIM:615777
200734	SPRED2	HP:0000520	Proptosis	2/4	OMIM:131300
200734	SPRED2	HP:0000520	Proptosis	7/7	OMIM:615777
200734	SPRED2	HP:0000520	Proptosis	HP:0040281	ORPHA:648
200734	SPRED2	HP:0000509	Conjunctivitis	-	OMIM:153400
200734	SPRED2	HP:0000508	Ptosis	2/39	OMIM:153400
200734	SPRED2	HP:0000508	Ptosis	HP:0040281	ORPHA:648
200734	SPRED2	HP:0012569	Delayed menarche	HP:0040283	ORPHA:648
200734	SPRED2	HP:0000592	Blue sclerae	2/7	OMIM:615777
200734	SPRED2	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:648
200734	SPRED2	HP:0001888	Decreased total lymphocyte count	1/4	OMIM:619745
200734	SPRED2	HP:0000568	Microphthalmia	1/6	OMIM:153400
200734	SPRED2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
200734	SPRED2	HP:0012514	Lower limb pain	4/4	OMIM:131300
200879	LIPH	HP:0025249	Comedo	1/1	OMIM:604379
200879	LIPH	HP:0000007	Autosomal recessive inheritance	-	OMIM:604379
200879	LIPH	HP:0000164	Abnormality of the dentition	0/3	OMIM:604379
200879	LIPH	HP:0003577	Congenital onset	3/3	OMIM:604379
200879	LIPH	HP:0002224	Woolly hair	HP:0040283	OMIM:604379
200879	LIPH	HP:0002224	Woolly hair	HP:0040281	ORPHA:170
200879	LIPH	HP:0002217	Slow-growing hair	HP:0040282	ORPHA:170
200879	LIPH	HP:0002215	Sparse axillary hair	3/3	OMIM:604379
200879	LIPH	HP:0002231	Sparse body hair	3/3	OMIM:604379
200879	LIPH	HP:0002231	Sparse body hair	HP:0040281	ORPHA:55654
200879	LIPH	HP:0002231	Sparse body hair	HP:0040283	ORPHA:170
200879	LIPH	HP:0002213	Fine hair	HP:0040281	ORPHA:170
200879	LIPH	HP:0002209	Sparse scalp hair	3/3	OMIM:604379
200879	LIPH	HP:0002209	Sparse scalp hair	HP:0040281	ORPHA:55654
200879	LIPH	HP:0010719	Abnormality of hair texture	HP:0040281	ORPHA:170
200879	LIPH	HP:0002299	Brittle hair	-	OMIM:604379
200879	LIPH	HP:0002299	Brittle hair	HP:0040281	ORPHA:170
200879	LIPH	HP:0005599	Hypopigmentation of hair	HP:0040282	ORPHA:170
200879	LIPH	HP:0000615	Abnormal pupil morphology	HP:0040283	ORPHA:170
200879	LIPH	HP:0000653	Sparse eyelashes	3/3	OMIM:604379
200879	LIPH	HP:0000653	Sparse eyelashes	HP:0040281	ORPHA:55654
200879	LIPH	HP:0045075	Sparse eyebrow	3/3	OMIM:604379
200879	LIPH	HP:0045075	Sparse eyebrow	HP:0040281	ORPHA:55654
200879	LIPH	HP:0000971	Abnormal sweat gland morphology	0/3	OMIM:604379
200879	LIPH	HP:0000951	Abnormality of the skin	0/3	OMIM:604379
200879	LIPH	HP:0008070	Sparse hair	3/3	OMIM:604379
200879	LIPH	HP:0008070	Sparse hair	HP:0040282	ORPHA:55654
200879	LIPH	HP:0001597	Abnormal nail morphology	0/3	OMIM:604379
200879	LIPH	HP:0001596	Alopecia	HP:0040281	ORPHA:55654
200879	LIPH	HP:0005338	Sparse lateral eyebrow	HP:0040283	ORPHA:170
200879	LIPH	HP:0000486	Strabismus	HP:0040283	ORPHA:170
200879	LIPH	HP:0000479	Abnormal retinal morphology	HP:0040283	ORPHA:170
200879	LIPH	HP:0000518	Cataract	HP:0040283	ORPHA:170
200894	ARL13B	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
200894	ARL13B	HP:0002419	Molar tooth sign on MRI	5/5	OMIM:612291
200894	ARL13B	HP:0001290	Generalized hypotonia	4/4	OMIM:612291
200894	ARL13B	HP:0001276	Hypertonia	1/1	OMIM:612291
200894	ARL13B	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
200894	ARL13B	HP:0001250	Seizure	HP:0040283	ORPHA:475
200894	ARL13B	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
200894	ARL13B	HP:0001252	Hypotonia	4/4	OMIM:612291
200894	ARL13B	HP:0001251	Ataxia	HP:0040281	ORPHA:475
200894	ARL13B	HP:0001251	Ataxia	5/5	OMIM:612291
200894	ARL13B	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
200894	ARL13B	HP:0001249	Intellectual disability	4/4	OMIM:612291
200894	ARL13B	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
200894	ARL13B	HP:0001263	Global developmental delay	4/4	OMIM:612291
200894	ARL13B	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
200894	ARL13B	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
200894	ARL13B	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
200894	ARL13B	HP:0001344	Absent speech	1/1	OMIM:612291
200894	ARL13B	HP:0000007	Autosomal recessive inheritance	-	OMIM:612291
200894	ARL13B	HP:0001337	Tremor	HP:0040283	ORPHA:475
200894	ARL13B	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
200894	ARL13B	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
200894	ARL13B	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
200894	ARL13B	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
200894	ARL13B	HP:0002085	Occipital encephalocele	2/4	OMIM:612291
200894	ARL13B	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
200894	ARL13B	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
200894	ARL13B	HP:0002104	Apnea	HP:0040281	ORPHA:475
200894	ARL13B	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
200894	ARL13B	HP:0002240	Hepatomegaly	1/1	OMIM:612291
200894	ARL13B	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
200894	ARL13B	HP:0003623	Neonatal onset	1/1	OMIM:612291
200894	ARL13B	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
200894	ARL13B	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
200894	ARL13B	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
200894	ARL13B	HP:0000657	Oculomotor apraxia	4/4	OMIM:612291
200894	ARL13B	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
200894	ARL13B	HP:0031936	Delayed ability to walk	1/1	OMIM:612291
200894	ARL13B	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
200894	ARL13B	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
200894	ARL13B	HP:0000276	Long face	HP:0040282	ORPHA:475
200894	ARL13B	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
200894	ARL13B	HP:0002883	Hyperventilation	1/1	OMIM:612291
200894	ARL13B	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
200894	ARL13B	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
200894	ARL13B	HP:0001513	Obesity	1/1	OMIM:612291
200894	ARL13B	HP:0006579	Prolonged neonatal jaundice	1/1	OMIM:612291
200894	ARL13B	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
200894	ARL13B	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
200894	ARL13B	HP:0000486	Strabismus	HP:0040283	ORPHA:475
200894	ARL13B	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
200894	ARL13B	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
200894	ARL13B	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
200894	ARL13B	HP:0000508	Ptosis	HP:0040283	ORPHA:475
200894	ARL13B	HP:0000508	Ptosis	1/4	OMIM:612291
200894	ARL13B	HP:0000580	Pigmentary retinopathy	1/4	OMIM:612291
200894	ARL13B	HP:0000543	Optic disc pallor	1/1	OMIM:612291
200931	SLC51A	HP:0000007	Autosomal recessive inheritance	-	OMIM:619484
200931	SLC51A	HP:0001405	Periportal fibrosis	1/1	OMIM:619484
200931	SLC51A	HP:0001406	Intrahepatic cholestasis	1/1	OMIM:619484
200931	SLC51A	HP:0002028	Chronic diarrhea	1/1	OMIM:619484
200931	SLC51A	HP:0030948	Elevated gamma-glutamyltransferase level	1/1	OMIM:619484
200931	SLC51A	HP:0011888	Bleeding requiring red cell transfusion	1/1	OMIM:619484
200931	SLC51A	HP:0003593	Infantile onset	1/1	OMIM:619484
200931	SLC51A	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:619484
200931	SLC51A	HP:0000978	Bruising susceptibility	1/1	OMIM:619484
200931	SLC51A	HP:0001508	Failure to thrive	1/1	OMIM:619484
200931	SLC51A	HP:0002910	Elevated circulating hepatic transaminase concentration	1/1	OMIM:619484
200931	SLC51A	HP:0002908	Conjugated hyperbilirubinemia	1/1	OMIM:619484
200942	KLHDC8B	HP:0000007	Autosomal recessive inheritance	-	OMIM:236000
200942	KLHDC8B	HP:0012189	Hodgkin lymphoma	3/7	OMIM:236000
200942	KLHDC8B	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	-	OMIM:236000
200942	KLHDC8B	HP:0003459	Polyclonal elevation of IgM	-	OMIM:236000
201134	CEP112	HP:0008734	Decreased testicular size	0/2	OMIM:619044
201134	CEP112	HP:0000007	Autosomal recessive inheritance	-	OMIM:619044
201134	CEP112	HP:0012869	Acephalic spermatozoa	2/2	OMIM:619044
201134	CEP112	HP:0003251	Male infertility	2/2	OMIM:619044
201134	CEP112	HP:0030087	Abnormal circulating testosterone concentration	0/2	OMIM:619044
201134	CEP112	HP:0012207	Reduced sperm motility	2/2	OMIM:619044
201163	FLCN	HP:0002463	Language impairment	-	OMIM:610883
201163	FLCN	HP:0002474	Expressive language delay	-	OMIM:610883
201163	FLCN	HP:0010863	Receptive language delay	-	OMIM:610883
201163	FLCN	HP:0003745	Sporadic	-	OMIM:610883
201163	FLCN	HP:0003745	Sporadic	-	OMIM:144700
201163	FLCN	HP:0032227	Sebaceous hyperplasia	4/51	OMIM:135150
201163	FLCN	HP:0032228	Trichodiscoma	9/51	OMIM:135150
201163	FLCN	HP:0001290	Generalized hypotonia	-	OMIM:610883
201163	FLCN	HP:0001256	Intellectual disability, mild	-	OMIM:610883
201163	FLCN	HP:0001250	Seizure	-	OMIM:610883
201163	FLCN	HP:0001263	Global developmental delay	-	OMIM:610883
201163	FLCN	HP:0003829	Typified by incomplete penetrance	-	OMIM:173600
201163	FLCN	HP:0008872	Feeding difficulties in infancy	-	OMIM:610883
201163	FLCN	HP:0000006	Autosomal dominant inheritance	-	OMIM:173600
201163	FLCN	HP:0000006	Autosomal dominant inheritance	-	OMIM:114500
201163	FLCN	HP:0000006	Autosomal dominant inheritance	-	OMIM:135150
201163	FLCN	HP:0002650	Scoliosis	-	OMIM:610883
201163	FLCN	HP:0000154	Wide mouth	-	OMIM:610883
201163	FLCN	HP:0007620	Cutaneous leiomyoma	1/51	OMIM:135150
201163	FLCN	HP:0001442	Typified by somatic mosaicism	-	OMIM:114500
201163	FLCN	HP:0000107	Renal cyst	-	OMIM:135150
201163	FLCN	HP:0002020	Gastroesophageal reflux	-	OMIM:610883
201163	FLCN	HP:0002011	Morphological central nervous system abnormality	-	OMIM:610883
201163	FLCN	HP:0005948	Multiple pulmonary cysts	-	OMIM:135150
201163	FLCN	HP:0002086	Abnormality of the respiratory system	HP:0040281	ORPHA:2903
201163	FLCN	HP:0002097	Emphysema	HP:0040281	ORPHA:122
201163	FLCN	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:610883
201163	FLCN	HP:0002103	Abnormal pleura morphology	HP:0040281	ORPHA:2903
201163	FLCN	HP:0002108	Spontaneous pneumothorax	27/51	OMIM:135150
201163	FLCN	HP:0002108	Spontaneous pneumothorax	-	OMIM:173600
201163	FLCN	HP:0002107	Pneumothorax	HP:0040283	ORPHA:122
201163	FLCN	HP:0002107	Pneumothorax	HP:0040281	ORPHA:2903
201163	FLCN	HP:0010609	Skin tags	HP:0040281	ORPHA:122
201163	FLCN	HP:0010535	Sleep apnea	-	OMIM:610883
201163	FLCN	HP:0010529	Echolalia	-	OMIM:610883
201163	FLCN	HP:0009726	Renal neoplasm	-	OMIM:135150
201163	FLCN	HP:0200136	Oral-pharyngeal dysphagia	-	OMIM:610883
201163	FLCN	HP:0002381	Aphasia	-	OMIM:610883
201163	FLCN	HP:0002360	Sleep abnormality	-	OMIM:610883
201163	FLCN	HP:0001012	Multiple lipomas	HP:0040282	ORPHA:122
201163	FLCN	HP:0001012	Multiple lipomas	-	OMIM:135150
201163	FLCN	HP:0002353	EEG abnormality	-	OMIM:610883
201163	FLCN	HP:0200034	Papule	HP:0040281	ORPHA:122
201163	FLCN	HP:0100632	Pulmonary sequestration	HP:0040282	ORPHA:122
201163	FLCN	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:122
201163	FLCN	HP:0005584	Renal cell carcinoma	-	OMIM:114500
201163	FLCN	HP:0005584	Renal cell carcinoma	30/51	OMIM:135150
201163	FLCN	HP:0005584	Renal cell carcinoma	-	OMIM:144700
201163	FLCN	HP:0000678	Dental crowding	-	OMIM:610883
201163	FLCN	HP:0000689	Dental malocclusion	-	OMIM:610883
201163	FLCN	HP:0004322	Short stature	-	OMIM:610883
201163	FLCN	HP:0003003	Colon cancer	2/51	OMIM:135150
201163	FLCN	HP:0000752	Hyperactivity	-	OMIM:610883
201163	FLCN	HP:0000733	Motor stereotypy	-	OMIM:610883
201163	FLCN	HP:0000717	Autism	-	OMIM:610883
201163	FLCN	HP:0003146	Hypocholesterolemia	-	OMIM:610883
201163	FLCN	HP:0000817	Reduced eye contact	-	OMIM:610883
201163	FLCN	HP:0000821	Hypothyroidism	HP:0040283	OMIM:610883
201163	FLCN	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:122
201163	FLCN	HP:0000243	Trigonocephaly	-	OMIM:610883
201163	FLCN	HP:0002897	Parathyroid adenoma	HP:0040283	ORPHA:122
201163	FLCN	HP:0000252	Microcephaly	-	OMIM:610883
201163	FLCN	HP:0012210	Abnormal renal morphology	-	OMIM:610883
201163	FLCN	HP:0000218	High palate	-	OMIM:610883
201163	FLCN	HP:0002891	Uterine leiomyosarcoma	-	OMIM:114500
201163	FLCN	HP:0002865	Medullary thyroid carcinoma	HP:0040283	ORPHA:122
201163	FLCN	HP:0001508	Failure to thrive	-	OMIM:610883
201163	FLCN	HP:0001518	Small for gestational age	-	OMIM:610883
201163	FLCN	HP:0000365	Hearing impairment	-	OMIM:610883
201163	FLCN	HP:0000337	Broad forehead	-	OMIM:610883
201163	FLCN	HP:0000347	Micrognathia	-	OMIM:610883
201163	FLCN	HP:0000319	Smooth philtrum	-	OMIM:610883
201163	FLCN	HP:0000316	Hypertelorism	-	OMIM:610883
201163	FLCN	HP:0000325	Triangular face	-	OMIM:610883
201163	FLCN	HP:0001655	Patent foramen ovale	-	OMIM:610883
201163	FLCN	HP:0001626	Abnormality of the cardiovascular system	-	OMIM:610883
201163	FLCN	HP:0001631	Atrial septal defect	-	OMIM:610883
201163	FLCN	HP:0000303	Mandibular prognathia	-	OMIM:610883
201163	FLCN	HP:0005274	Prominent nasal tip	-	OMIM:610883
201163	FLCN	HP:0000494	Downslanted palpebral fissures	-	OMIM:610883
201163	FLCN	HP:0012448	Delayed myelination	-	OMIM:610883
201163	FLCN	HP:0030255	Large intestinal polyposis	-	OMIM:135150
201163	FLCN	HP:0006753	Neoplasm of the stomach	-	OMIM:114500
201163	FLCN	HP:0006755	Cutaneous leiomyosarcoma	1/51	OMIM:135150
201163	FLCN	HP:0006740	Transitional cell carcinoma of the bladder	-	OMIM:114500
201163	FLCN	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	-	OMIM:114500
201163	FLCN	HP:0030436	Fibrofolliculoma	75/89	OMIM:135150
201163	FLCN	HP:0000540	Hypermetropia	-	OMIM:610883
201294	UNC13D	HP:0001250	Seizure	HP:0040283	ORPHA:540
201294	UNC13D	HP:0002583	Colitis	HP:0040283	ORPHA:540
201294	UNC13D	HP:0001259	Coma	HP:0040283	ORPHA:540
201294	UNC13D	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:540
201294	UNC13D	HP:0000007	Autosomal recessive inheritance	-	OMIM:608898
201294	UNC13D	HP:0002611	Cholestatic liver disease	HP:0040282	ORPHA:540
201294	UNC13D	HP:0012177	Abnormal natural killer cell physiology	HP:0040282	ORPHA:540
201294	UNC13D	HP:0012177	Abnormal natural killer cell physiology	13/13	OMIM:608898
201294	UNC13D	HP:0012156	Hemophagocytosis	-	OMIM:608898
201294	UNC13D	HP:0012156	Hemophagocytosis	HP:0040281	ORPHA:540
201294	UNC13D	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	HP:0040281	ORPHA:540
201294	UNC13D	HP:0001433	Hepatosplenomegaly	-	OMIM:608898
201294	UNC13D	HP:0001410	Decreased liver function	HP:0040282	ORPHA:540
201294	UNC13D	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:540
201294	UNC13D	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:540
201294	UNC13D	HP:0002155	Hypertriglyceridemia	-	OMIM:608898
201294	UNC13D	HP:0002155	Hypertriglyceridemia	HP:0040282	ORPHA:540
201294	UNC13D	HP:0011900	Hypofibrinogenemia	-	OMIM:608898
201294	UNC13D	HP:0011900	Hypofibrinogenemia	HP:0040282	ORPHA:540
201294	UNC13D	HP:0003593	Infantile onset	6/15	OMIM:608898
201294	UNC13D	HP:0002240	Hepatomegaly	HP:0040282	ORPHA:540
201294	UNC13D	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:540
201294	UNC13D	HP:0001019	Erythroderma	HP:0040282	ORPHA:540
201294	UNC13D	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:540
201294	UNC13D	HP:0003623	Neonatal onset	2/15	OMIM:608898
201294	UNC13D	HP:0003621	Juvenile onset	5/15	OMIM:608898
201294	UNC13D	HP:0001945	Fever	HP:0040281	ORPHA:540
201294	UNC13D	HP:0001945	Fever	-	OMIM:608898
201294	UNC13D	HP:0001903	Anemia	HP:0040281	ORPHA:540
201294	UNC13D	HP:0001903	Anemia	12/14	OMIM:608898
201294	UNC13D	HP:0001913	Decreased total granulocyte count	11/14	OMIM:608898
201294	UNC13D	HP:0004302	Functional motor deficit	HP:0040283	ORPHA:540
201294	UNC13D	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040283	ORPHA:540
201294	UNC13D	HP:0003073	Hypoalbuminemia	HP:0040281	ORPHA:540
201294	UNC13D	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:540
201294	UNC13D	HP:0011463	Childhood onset	1/15	OMIM:608898
201294	UNC13D	HP:0030783	Increased circulating interleukin 6 concentration	HP:0040282	ORPHA:540
201294	UNC13D	HP:0003281	Increased circulating ferritin concentration	HP:0040281	ORPHA:540
201294	UNC13D	HP:0003256	Abnormality of the coagulation cascade	HP:0040282	ORPHA:540
201294	UNC13D	HP:0000979	Purpura	HP:0040282	ORPHA:540
201294	UNC13D	HP:0000978	Bruising susceptibility	HP:0040283	ORPHA:540
201294	UNC13D	HP:0000988	Skin rash	HP:0040282	ORPHA:540
201294	UNC13D	HP:0000952	Jaundice	HP:0040283	ORPHA:540
201294	UNC13D	HP:0000967	Petechiae	HP:0040282	ORPHA:540
201294	UNC13D	HP:0040186	Maculopapular exanthema	HP:0040283	ORPHA:540
201294	UNC13D	HP:0012229	CSF pleocytosis	HP:0040282	ORPHA:540
201294	UNC13D	HP:0012211	Abnormal renal physiology	HP:0040282	ORPHA:540
201294	UNC13D	HP:0031364	Ecchymosis	HP:0040282	ORPHA:540
201294	UNC13D	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040281	ORPHA:540
201294	UNC13D	HP:0002958	Immune dysregulation	HP:0040281	ORPHA:540
201294	UNC13D	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:540
201294	UNC13D	HP:0011118	Abnormality of tumor necrosis factor secretion	HP:0040281	ORPHA:540
201294	UNC13D	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:540
201294	UNC13D	HP:0011112	Abnormal circulating cytokine concentration	HP:0040281	ORPHA:540
201294	UNC13D	HP:0001744	Splenomegaly	HP:0040282	ORPHA:540
201294	UNC13D	HP:0025708	Early young adult onset	1/15	OMIM:608898
201294	UNC13D	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040281	ORPHA:540
201294	UNC13D	HP:0001873	Thrombocytopenia	HP:0040281	ORPHA:540
201294	UNC13D	HP:0001875	Decreased total neutrophil count	HP:0040282	ORPHA:540
201595	STT3B	HP:0001290	Generalized hypotonia	HP:0040280	ORPHA:370924
201595	STT3B	HP:0001272	Cerebellar atrophy	1/1	OMIM:615597
201595	STT3B	HP:0001272	Cerebellar atrophy	HP:0040280	ORPHA:370924
201595	STT3B	HP:0001250	Seizure	HP:0040280	ORPHA:370924
201595	STT3B	HP:0001250	Seizure	1/1	OMIM:615597
201595	STT3B	HP:0001252	Hypotonia	1/1	OMIM:615597
201595	STT3B	HP:0001249	Intellectual disability	HP:0040280	ORPHA:370924
201595	STT3B	HP:0001249	Intellectual disability	1/1	OMIM:615597
201595	STT3B	HP:0001263	Global developmental delay	HP:0040280	ORPHA:370924
201595	STT3B	HP:0001263	Global developmental delay	1/1	OMIM:615597
201595	STT3B	HP:0003819	Death in childhood	1/1	OMIM:615597
201595	STT3B	HP:0000078	Abnormality of the genital system	HP:0040282	ORPHA:370924
201595	STT3B	HP:0000046	Small scrotum	1/1	OMIM:615597
201595	STT3B	HP:0000046	Small scrotum	HP:0040282	ORPHA:370924
201595	STT3B	HP:0000054	Micropenis	1/1	OMIM:615597
201595	STT3B	HP:0000054	Micropenis	HP:0040282	ORPHA:370924
201595	STT3B	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:370924
201595	STT3B	HP:0000028	Cryptorchidism	1/1	OMIM:615597
201595	STT3B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615597
201595	STT3B	HP:0002098	Respiratory distress	1/1	OMIM:615597
201595	STT3B	HP:0002098	Respiratory distress	HP:0040282	ORPHA:370924
201595	STT3B	HP:0011968	Feeding difficulties	HP:0040280	ORPHA:370924
201595	STT3B	HP:0011968	Feeding difficulties	1/1	OMIM:615597
201595	STT3B	HP:0000648	Optic atrophy	1/1	OMIM:615597
201595	STT3B	HP:0000648	Optic atrophy	HP:0040282	ORPHA:370924
201595	STT3B	HP:0011461	Fetal onset	1/1	OMIM:615597
201595	STT3B	HP:0000252	Microcephaly	HP:0040280	ORPHA:370924
201595	STT3B	HP:0000252	Microcephaly	1/1	OMIM:615597
201595	STT3B	HP:0001508	Failure to thrive	HP:0040280	ORPHA:370924
201595	STT3B	HP:0001508	Failure to thrive	1/1	OMIM:615597
201595	STT3B	HP:0001511	Intrauterine growth retardation	1/1	OMIM:615597
201595	STT3B	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:370924
201595	STT3B	HP:0012345	Abnormal glycosylation	1/1	OMIM:615597
201595	STT3B	HP:0012345	Abnormal glycosylation	HP:0040280	ORPHA:370924
201595	STT3B	HP:0001873	Thrombocytopenia	1/1	OMIM:615597
201595	STT3B	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:370924
201973	PRIMPOL	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
201973	PRIMPOL	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
201973	PRIMPOL	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
201973	PRIMPOL	HP:0000006	Autosomal dominant inheritance	-	OMIM:615420
201973	PRIMPOL	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
201973	PRIMPOL	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
201973	PRIMPOL	HP:0007663	Reduced visual acuity	1/8	OMIM:615420
201973	PRIMPOL	HP:0003621	Juvenile onset	8/19	OMIM:180100
201973	PRIMPOL	HP:0000662	Nyctalopia	26/28	OMIM:180100
201973	PRIMPOL	HP:0011463	Childhood onset	3/19	OMIM:180100
201973	PRIMPOL	HP:0011462	Young adult onset	8/19	OMIM:180100
201973	PRIMPOL	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
201973	PRIMPOL	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
201973	PRIMPOL	HP:0011003	High myopia	8/8	OMIM:615420
201973	PRIMPOL	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
201973	PRIMPOL	HP:0000575	Scotoma	5/18	OMIM:180100
201973	PRIMPOL	HP:0000543	Optic disc pallor	1/1	OMIM:180100
201973	PRIMPOL	HP:0000545	Myopia	-	OMIM:180100
202018	TAPT1	HP:0001181	Adducted thumb	-	OMIM:616897
202018	TAPT1	HP:0001195	Single umbilical artery	-	OMIM:616897
202018	TAPT1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
202018	TAPT1	HP:0001293	Cranial nerve compression	-	OMIM:131300
202018	TAPT1	HP:0001256	Intellectual disability, mild	-	OMIM:259770
202018	TAPT1	HP:0001252	Hypotonia	-	OMIM:259770
202018	TAPT1	HP:0001252	Hypotonia	2/7	OMIM:615777
202018	TAPT1	HP:0001249	Intellectual disability	5/7	OMIM:615777
202018	TAPT1	HP:0001263	Global developmental delay	1/1	OMIM:612394
202018	TAPT1	HP:0001263	Global developmental delay	-	OMIM:615777
202018	TAPT1	HP:0002515	Waddling gait	54/102	OMIM:131300
202018	TAPT1	HP:0001371	Flexion contracture	-	OMIM:616897
202018	TAPT1	HP:0000054	Micropenis	-	OMIM:616897
202018	TAPT1	HP:0001382	Joint hypermobility	-	OMIM:259770
202018	TAPT1	HP:0001382	Joint hypermobility	-	OMIM:615777
202018	TAPT1	HP:0000047	Hypospadias	-	OMIM:616897
202018	TAPT1	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
202018	TAPT1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
202018	TAPT1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
202018	TAPT1	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
202018	TAPT1	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
202018	TAPT1	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
202018	TAPT1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
202018	TAPT1	HP:0001324	Muscle weakness	40/96	OMIM:131300
202018	TAPT1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
202018	TAPT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
202018	TAPT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
202018	TAPT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616897
202018	TAPT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
202018	TAPT1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
202018	TAPT1	HP:0002650	Scoliosis	1/5	OMIM:259770
202018	TAPT1	HP:0002650	Scoliosis	1/1	OMIM:612394
202018	TAPT1	HP:0002650	Scoliosis	12/14	OMIM:131300
202018	TAPT1	HP:0001321	Cerebellar hypoplasia	-	OMIM:616897
202018	TAPT1	HP:0003978	Fractured radius	-	OMIM:616897
202018	TAPT1	HP:0002645	Wormian bones	-	OMIM:616897
202018	TAPT1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
202018	TAPT1	HP:0031107	Decreased fibular diameter	-	OMIM:616897
202018	TAPT1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
202018	TAPT1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
202018	TAPT1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
202018	TAPT1	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
202018	TAPT1	HP:0000175	Cleft palate	2/7	OMIM:615777
202018	TAPT1	HP:0000175	Cleft palate	-	OMIM:616897
202018	TAPT1	HP:0000126	Hydronephrosis	-	OMIM:616897
202018	TAPT1	HP:0002757	Recurrent fractures	4/5	OMIM:259770
202018	TAPT1	HP:0002756	Pathologic fracture	-	OMIM:259770
202018	TAPT1	HP:0002756	Pathologic fracture	1/1	OMIM:612394
202018	TAPT1	HP:0002751	Kyphoscoliosis	-	OMIM:259770
202018	TAPT1	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
202018	TAPT1	HP:0002089	Pulmonary hypoplasia	-	OMIM:616897
202018	TAPT1	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
202018	TAPT1	HP:0003388	Easy fatigability	36/76	OMIM:131300
202018	TAPT1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
202018	TAPT1	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
202018	TAPT1	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
202018	TAPT1	HP:0002119	Ventriculomegaly	-	OMIM:616897
202018	TAPT1	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
202018	TAPT1	HP:0002164	Nail dysplasia	1/1	OMIM:612394
202018	TAPT1	HP:0010557	Overlapping fingers	1/2	OMIM:612394
202018	TAPT1	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
202018	TAPT1	HP:0002265	Large fleshy ears	-	OMIM:616897
202018	TAPT1	HP:0003593	Infantile onset	1/5	OMIM:259770
202018	TAPT1	HP:0003577	Congenital onset	4/5	OMIM:259770
202018	TAPT1	HP:0002202	Pleural effusion	-	OMIM:616897
202018	TAPT1	HP:0002208	Coarse hair	1/1	OMIM:612394
202018	TAPT1	HP:0003510	Severe short stature	7/7	OMIM:615777
202018	TAPT1	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
202018	TAPT1	HP:0025019	Arterial rupture	1/1	OMIM:612394
202018	TAPT1	HP:0002315	Headache	-	OMIM:131300
202018	TAPT1	HP:0004976	Knee dislocation	6/7	OMIM:615777
202018	TAPT1	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
202018	TAPT1	HP:0009826	Limb undergrowth	-	OMIM:616897
202018	TAPT1	HP:0009803	Short phalanx of finger	-	OMIM:615777
202018	TAPT1	HP:0001089	Iris atrophy	-	OMIM:259770
202018	TAPT1	HP:0009763	Limb pain	63/92	OMIM:131300
202018	TAPT1	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
202018	TAPT1	HP:0003621	Juvenile onset	-	OMIM:131300
202018	TAPT1	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
202018	TAPT1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
202018	TAPT1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
202018	TAPT1	HP:6001056	Out-toeing	-	OMIM:131300
202018	TAPT1	HP:0000651	Diplopia	-	OMIM:131300
202018	TAPT1	HP:0000618	Blindness	5/5	OMIM:259770
202018	TAPT1	HP:0001956	Truncal obesity	2/7	OMIM:615777
202018	TAPT1	HP:0001903	Anemia	HP:0040283	OMIM:131300
202018	TAPT1	HP:0010049	Short metacarpal	-	OMIM:615777
202018	TAPT1	HP:0000678	Dental crowding	-	OMIM:615777
202018	TAPT1	HP:0000670	Carious teeth	-	OMIM:131300
202018	TAPT1	HP:0011304	Broad thumb	2/7	OMIM:615777
202018	TAPT1	HP:0000668	Hypodontia	-	OMIM:615777
202018	TAPT1	HP:0000667	Phthisis bulbi	-	OMIM:259770
202018	TAPT1	HP:0000664	Synophrys	-	OMIM:615777
202018	TAPT1	HP:0004322	Short stature	-	OMIM:259770
202018	TAPT1	HP:0004331	Decreased skull ossification	-	OMIM:616897
202018	TAPT1	HP:0004396	Poor appetite	-	OMIM:131300
202018	TAPT1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
202018	TAPT1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
202018	TAPT1	HP:0003015	Flared metaphysis	-	OMIM:616897
202018	TAPT1	HP:0003016	Metaphyseal widening	-	OMIM:259770
202018	TAPT1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
202018	TAPT1	HP:0003026	Short long bone	7/7	OMIM:615777
202018	TAPT1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
202018	TAPT1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
202018	TAPT1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
202018	TAPT1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
202018	TAPT1	HP:0000750	Delayed speech and language development	-	OMIM:615777
202018	TAPT1	HP:0011461	Fetal onset	7/7	OMIM:615777
202018	TAPT1	HP:0011461	Fetal onset	2/2	OMIM:612394
202018	TAPT1	HP:0000774	Narrow chest	2/7	OMIM:615777
202018	TAPT1	HP:0000773	Short ribs	-	OMIM:616897
202018	TAPT1	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
202018	TAPT1	HP:0003196	Short nose	1/1	OMIM:612394
202018	TAPT1	HP:0003196	Short nose	-	OMIM:616897
202018	TAPT1	HP:0000926	Platyspondyly	-	OMIM:259770
202018	TAPT1	HP:0000926	Platyspondyly	1/7	OMIM:615777
202018	TAPT1	HP:0000926	Platyspondyly	1/1	OMIM:612394
202018	TAPT1	HP:0000926	Platyspondyly	-	OMIM:616897
202018	TAPT1	HP:0003180	Flat acetabular roof	-	OMIM:615777
202018	TAPT1	HP:0004482	Relative macrocephaly	-	OMIM:615777
202018	TAPT1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
202018	TAPT1	HP:0100333	Unilateral cleft lip	-	OMIM:616897
202018	TAPT1	HP:0003097	Short femur	-	OMIM:616897
202018	TAPT1	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
202018	TAPT1	HP:0000823	Delayed puberty	-	OMIM:131300
202018	TAPT1	HP:0000894	Short clavicles	-	OMIM:615777
202018	TAPT1	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
202018	TAPT1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
202018	TAPT1	HP:0005855	Multiple prenatal fractures	-	OMIM:616897
202018	TAPT1	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
202018	TAPT1	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
202018	TAPT1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
202018	TAPT1	HP:0000939	Osteoporosis	4/5	OMIM:259770
202018	TAPT1	HP:0000938	Osteopenia	1/5	OMIM:259770
202018	TAPT1	HP:0000938	Osteopenia	1/1	OMIM:612394
202018	TAPT1	HP:0000938	Osteopenia	-	OMIM:616897
202018	TAPT1	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
202018	TAPT1	HP:0000286	Epicanthus	1/7	OMIM:615777
202018	TAPT1	HP:0000280	Coarse facial features	2/7	OMIM:615777
202018	TAPT1	HP:0000272	Malar flattening	1/1	OMIM:612394
202018	TAPT1	HP:0007773	Vitreoretinopathy	-	OMIM:259770
202018	TAPT1	HP:0002827	Hip dislocation	3/7	OMIM:615777
202018	TAPT1	HP:0002808	Kyphosis	1/5	OMIM:259770
202018	TAPT1	HP:0000252	Microcephaly	-	OMIM:616897
202018	TAPT1	HP:0000252	Microcephaly	-	OMIM:259770
202018	TAPT1	HP:0000252	Microcephaly	-	OMIM:615777
202018	TAPT1	HP:0000248	Brachycephaly	-	OMIM:616897
202018	TAPT1	HP:0001552	Barrel-shaped chest	-	OMIM:259770
202018	TAPT1	HP:0001561	Polyhydramnios	-	OMIM:616897
202018	TAPT1	HP:0002857	Genu valgum	-	OMIM:131300
202018	TAPT1	HP:0001541	Ascites	-	OMIM:616897
202018	TAPT1	HP:0001533	Slender build	-	OMIM:131300
202018	TAPT1	HP:0001518	Small for gestational age	-	OMIM:616897
202018	TAPT1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
202018	TAPT1	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
202018	TAPT1	HP:0001511	Intrauterine growth retardation	-	OMIM:616897
202018	TAPT1	HP:0007807	Optic nerve compression	-	OMIM:131300
202018	TAPT1	HP:0012368	Flat face	7/7	OMIM:615777
202018	TAPT1	HP:0012368	Flat face	1/1	OMIM:612394
202018	TAPT1	HP:0012368	Flat face	-	OMIM:616897
202018	TAPT1	HP:0005257	Thoracic hypoplasia	-	OMIM:616897
202018	TAPT1	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
202018	TAPT1	HP:0007875	Congenital blindness	4/5	OMIM:259770
202018	TAPT1	HP:0007862	Retinal calcification	1/5	OMIM:259770
202018	TAPT1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
202018	TAPT1	HP:0000365	Hearing impairment	10/67	OMIM:131300
202018	TAPT1	HP:0000358	Posteriorly rotated ears	-	OMIM:616897
202018	TAPT1	HP:0000369	Low-set ears	2/2	OMIM:612394
202018	TAPT1	HP:0000369	Low-set ears	-	OMIM:616897
202018	TAPT1	HP:0000343	Long philtrum	1/7	OMIM:615777
202018	TAPT1	HP:0011001	Increased bone mineral density	-	OMIM:131300
202018	TAPT1	HP:0000347	Micrognathia	-	OMIM:616897
202018	TAPT1	HP:0002982	Tibial bowing	1/5	OMIM:259770
202018	TAPT1	HP:0000316	Hypertelorism	-	OMIM:616897
202018	TAPT1	HP:0000311	Round face	2/7	OMIM:615777
202018	TAPT1	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
202018	TAPT1	HP:0001629	Ventricular septal defect	-	OMIM:259770
202018	TAPT1	HP:0001629	Ventricular septal defect	-	OMIM:616897
202018	TAPT1	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
202018	TAPT1	HP:0001640	Cardiomegaly	-	OMIM:616897
202018	TAPT1	HP:0002970	Genu varum	-	OMIM:615777
202018	TAPT1	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:616897
202018	TAPT1	HP:0000307	Pointed chin	1/2	OMIM:612394
202018	TAPT1	HP:0000303	Mandibular prognathia	-	OMIM:131300
202018	TAPT1	HP:0006640	Multiple rib fractures	20/20	OMIM:616897
202018	TAPT1	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
202018	TAPT1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
202018	TAPT1	HP:0000463	Anteverted nares	1/1	OMIM:612394
202018	TAPT1	HP:0000463	Anteverted nares	-	OMIM:616897
202018	TAPT1	HP:0001789	Hydrops fetalis	-	OMIM:616897
202018	TAPT1	HP:0000470	Short neck	1/7	OMIM:615777
202018	TAPT1	HP:0000470	Short neck	-	OMIM:616897
202018	TAPT1	HP:0000465	Webbed neck	-	OMIM:616897
202018	TAPT1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
202018	TAPT1	HP:0001763	Pes planus	1/7	OMIM:615777
202018	TAPT1	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
202018	TAPT1	HP:0000431	Wide nasal bridge	-	OMIM:616897
202018	TAPT1	HP:0000518	Cataract	1/5	OMIM:259770
202018	TAPT1	HP:0000518	Cataract	1/1	OMIM:612394
202018	TAPT1	HP:0001840	Metatarsus adductus	-	OMIM:615777
202018	TAPT1	HP:0000520	Proptosis	2/4	OMIM:131300
202018	TAPT1	HP:0000520	Proptosis	7/7	OMIM:615777
202018	TAPT1	HP:0000506	Telecanthus	-	OMIM:616897
202018	TAPT1	HP:0000592	Blue sclerae	2/7	OMIM:615777
202018	TAPT1	HP:0000586	Shallow orbits	1/1	OMIM:612394
202018	TAPT1	HP:0011220	Prominent forehead	-	OMIM:616897
202018	TAPT1	HP:0000568	Microphthalmia	1/5	OMIM:259770
202018	TAPT1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
202018	TAPT1	HP:0012514	Lower limb pain	4/4	OMIM:131300
202018	TAPT1	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
202018	TAPT1	HP:0000545	Myopia	1/1	OMIM:612394
203068	TUBB	HP:0025102	Dysgenesis of the basal ganglia	3/3	OMIM:615771
203068	TUBB	HP:0100807	Long fingers	HP:0040283	OMIM:156610
203068	TUBB	HP:0001270	Motor delay	-	OMIM:156610
203068	TUBB	HP:0001252	Hypotonia	1/3	OMIM:156610
203068	TUBB	HP:0001251	Ataxia	1/3	OMIM:615771
203068	TUBB	HP:0001249	Intellectual disability	3/3	OMIM:156610
203068	TUBB	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2505
203068	TUBB	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2505
203068	TUBB	HP:0001263	Global developmental delay	3/3	OMIM:615771
203068	TUBB	HP:0002557	Hypoplastic nipples	-	OMIM:156610
203068	TUBB	HP:0007400	Irregular hyperpigmentation	HP:0040282	ORPHA:2505
203068	TUBB	HP:0002539	Cortical dysplasia	1/3	OMIM:615771
203068	TUBB	HP:0000046	Small scrotum	HP:0040283	ORPHA:2505
203068	TUBB	HP:0000045	Abnormal scrotum morphology	HP:0040283	ORPHA:2505
203068	TUBB	HP:0000047	Hypospadias	HP:0040283	ORPHA:2505
203068	TUBB	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2505
203068	TUBB	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2505
203068	TUBB	HP:0007522	Increased number of skin folds	HP:0040281	ORPHA:2505
203068	TUBB	HP:0033725	Thin corpus callosum	1/3	OMIM:615771
203068	TUBB	HP:0032409	Subcortical band heterotopia	1/3	OMIM:615771
203068	TUBB	HP:0001338	Partial agenesis of the corpus callosum	2/3	OMIM:615771
203068	TUBB	HP:0000006	Autosomal dominant inheritance	-	OMIM:615771
203068	TUBB	HP:0000006	Autosomal dominant inheritance	-	OMIM:156610
203068	TUBB	HP:0001305	Dandy-Walker malformation	1/3	OMIM:156610
203068	TUBB	HP:0001320	Cerebellar vermis hypoplasia	1/3	OMIM:615771
203068	TUBB	HP:0032471	Focal polymicrogyria	1/3	OMIM:615771
203068	TUBB	HP:0000160	Narrow mouth	3/3	OMIM:156610
203068	TUBB	HP:0000175	Cleft palate	2/3	OMIM:156610
203068	TUBB	HP:0000175	Cleft palate	HP:0040282	ORPHA:2505
203068	TUBB	HP:0100560	Upper limb asymmetry	HP:0040283	ORPHA:2505
203068	TUBB	HP:0100559	Lower limb asymmetry	HP:0040283	ORPHA:2505
203068	TUBB	HP:0002079	Hypoplasia of the corpus callosum	1/3	OMIM:156610
203068	TUBB	HP:0034400	Circumferential skin creases on extremities	3/3	OMIM:156610
203068	TUBB	HP:0002198	Dilated fourth ventricle	1/3	OMIM:615771
203068	TUBB	HP:0003577	Congenital onset	3/3	OMIM:615771
203068	TUBB	HP:0002230	Generalized hirsutism	HP:0040283	ORPHA:2505
203068	TUBB	HP:0002365	Hypoplasia of the brainstem	2/3	OMIM:615771
203068	TUBB	HP:0001072	Thickened skin	HP:0040281	ORPHA:2505
203068	TUBB	HP:0006855	Cerebellar vermis atrophy	HP:0040283	OMIM:156610
203068	TUBB	HP:0000629	Periorbital fullness	-	OMIM:156610
203068	TUBB	HP:0004322	Short stature	HP:0040283	ORPHA:2505
203068	TUBB	HP:0003011	Abnormality of the musculature	HP:0040283	ORPHA:2505
203068	TUBB	HP:0012745	Short palpebral fissure	3/3	OMIM:156610
203068	TUBB	HP:0000767	Pectus excavatum	HP:0040283	OMIM:156610
203068	TUBB	HP:0000750	Delayed speech and language development	-	OMIM:156610
203068	TUBB	HP:0000750	Delayed speech and language development	3/3	OMIM:615771
203068	TUBB	HP:0011451	Primary microcephaly	3/3	OMIM:615771
203068	TUBB	HP:0000969	Edema	HP:0040281	ORPHA:2505
203068	TUBB	HP:0000286	Epicanthus	3/3	OMIM:156610
203068	TUBB	HP:0000286	Epicanthus	HP:0040283	ORPHA:2505
203068	TUBB	HP:0000271	Abnormality of the face	HP:0040283	ORPHA:2505
203068	TUBB	HP:0000252	Microcephaly	3/3	OMIM:156610
203068	TUBB	HP:0000252	Microcephaly	HP:0040283	ORPHA:2505
203068	TUBB	HP:0000248	Brachycephaly	1/3	OMIM:156610
203068	TUBB	HP:0000218	High palate	1/3	OMIM:156610
203068	TUBB	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2505
203068	TUBB	HP:0012368	Flat face	1/3	OMIM:156610
203068	TUBB	HP:0000377	Abnormal pinna morphology	HP:0040283	ORPHA:2505
203068	TUBB	HP:0000396	Overfolded helix	1/3	OMIM:156610
203068	TUBB	HP:0000358	Posteriorly rotated ears	2/3	OMIM:156610
203068	TUBB	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:2505
203068	TUBB	HP:0000369	Low-set ears	3/3	OMIM:156610
203068	TUBB	HP:0000343	Long philtrum	1/3	OMIM:156610
203068	TUBB	HP:0000343	Long philtrum	HP:0040283	ORPHA:2505
203068	TUBB	HP:0000347	Micrognathia	HP:0040283	OMIM:156610
203068	TUBB	HP:0000347	Micrognathia	HP:0040283	ORPHA:2505
203068	TUBB	HP:0000316	Hypertelorism	1/3	OMIM:156610
203068	TUBB	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:2505
203068	TUBB	HP:0006610	Wide intermamillary distance	2/3	OMIM:156610
203068	TUBB	HP:0007973	Retinal dysplasia	1/3	OMIM:615771
203068	TUBB	HP:0005280	Depressed nasal bridge	2/3	OMIM:156610
203068	TUBB	HP:0000482	Microcornea	HP:0040283	OMIM:156610
203068	TUBB	HP:0000482	Microcornea	HP:0040283	ORPHA:2505
203068	TUBB	HP:0000488	Retinopathy	HP:0040283	ORPHA:2505
203068	TUBB	HP:0000470	Short neck	1/3	OMIM:156610
203068	TUBB	HP:0006768	Localized neuroblastoma	HP:0040283	ORPHA:2505
203068	TUBB	HP:0006768	Localized neuroblastoma	-	OMIM:156610
203068	TUBB	HP:0000582	Upslanted palpebral fissure	HP:0040283	OMIM:156610
203068	TUBB	HP:0000581	Blepharophimosis	1/3	OMIM:156610
203068	TUBB	HP:0000568	Microphthalmia	1/3	OMIM:615771
203068	TUBB	HP:0000568	Microphthalmia	1/3	OMIM:156610
203068	TUBB	HP:0000568	Microphthalmia	HP:0040283	ORPHA:2505
203190	LGI3	HP:0002411	Myokymia	5/8	OMIM:620007
203190	LGI3	HP:0001251	Ataxia	1/16	OMIM:620007
203190	LGI3	HP:0001249	Intellectual disability	13/13	OMIM:620007
203190	LGI3	HP:0001265	Hyporeflexia	10/16	OMIM:620007
203190	LGI3	HP:0001263	Global developmental delay	16/16	OMIM:620007
203190	LGI3	HP:0001385	Hip dysplasia	1/16	OMIM:620007
203190	LGI3	HP:0000007	Autosomal recessive inheritance	-	OMIM:620007
203190	LGI3	HP:0001308	Tongue fasciculations	3/16	OMIM:620007
203190	LGI3	HP:0000160	Narrow mouth	6/16	OMIM:620007
203190	LGI3	HP:0008936	Axial hypotonia	1/16	OMIM:620007
203190	LGI3	HP:0003593	Infantile onset	8/16	OMIM:620007
203190	LGI3	HP:0007018	Attention deficit hyperactivity disorder	4/16	OMIM:620007
203190	LGI3	HP:0002375	Hypokinesia	1/16	OMIM:620007
203190	LGI3	HP:0004322	Short stature	1/16	OMIM:620007
203190	LGI3	HP:0000768	Pectus carinatum	1/16	OMIM:620007
203190	LGI3	HP:0000739	Anxiety	1/16	OMIM:620007
203190	LGI3	HP:0011463	Childhood onset	8/16	OMIM:620007
203190	LGI3	HP:0000964	Eczematoid dermatitis	1/16	OMIM:620007
203190	LGI3	HP:0002808	Kyphosis	1/16	OMIM:620007
203190	LGI3	HP:0000253	Progressive microcephaly	1/16	OMIM:620007
203190	LGI3	HP:0001508	Failure to thrive	1/16	OMIM:620007
203190	LGI3	HP:0012389	Appendicular hypotonia	3/16	OMIM:620007
203190	LGI3	HP:0000317	Facial myokymia	7/16	OMIM:620007
203228	C9orf72	HP:0002442	Dyscalculia	-	OMIM:105550
203228	C9orf72	HP:0007308	Extrapyramidal dyskinesia	-	OMIM:105550
203228	C9orf72	HP:0001260	Dysarthria	-	OMIM:105550
203228	C9orf72	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:105550
203228	C9orf72	HP:0002529	Neuronal loss in central nervous system	-	OMIM:105550
203228	C9orf72	HP:0001324	Muscle weakness	-	OMIM:105550
203228	C9orf72	HP:0000006	Autosomal dominant inheritance	-	OMIM:105550
203228	C9orf72	HP:0001300	Parkinsonism	-	OMIM:105550
203228	C9orf72	HP:0002059	Cerebral atrophy	-	OMIM:105550
203228	C9orf72	HP:0002145	Frontotemporal dementia	-	OMIM:105550
203228	C9orf72	HP:0002186	Apraxia	-	OMIM:105550
203228	C9orf72	HP:0002171	Gliosis	-	OMIM:105550
203228	C9orf72	HP:0002273	Tetraparesis	-	OMIM:105550
203228	C9orf72	HP:0003581	Adult onset	-	OMIM:105550
203228	C9orf72	HP:0002385	Paraparesis	-	OMIM:105550
203228	C9orf72	HP:0002366	Abnormal lower motor neuron morphology	-	OMIM:105550
203228	C9orf72	HP:0003678	Rapidly progressive	-	OMIM:105550
203228	C9orf72	HP:0000605	Supranuclear gaze palsy	HP:0040283	OMIM:105550
203228	C9orf72	HP:0000738	Hallucinations	-	OMIM:105550
203228	C9orf72	HP:0000746	Delusion	-	OMIM:105550
203228	C9orf72	HP:0000741	Apathy	-	OMIM:105550
203228	C9orf72	HP:0000716	Depression	-	OMIM:105550
203228	C9orf72	HP:0000726	Dementia	-	OMIM:105550
203228	C9orf72	HP:0003202	Skeletal muscle atrophy	-	OMIM:105550
203286	ANKS6	HP:0003774	Stage 5 chronic kidney disease	6/7	OMIM:615382
203286	ANKS6	HP:0000083	Renal insufficiency	7/7	OMIM:615382
203286	ANKS6	HP:0000090	Nephronophthisis	-	OMIM:615382
203286	ANKS6	HP:0001396	Cholestasis	1/7	OMIM:615382
203286	ANKS6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615382
203286	ANKS6	HP:0000113	Polycystic kidney dysplasia	7/7	OMIM:615382
203286	ANKS6	HP:0000105	Enlarged kidney	4/7	OMIM:615382
203286	ANKS6	HP:0001405	Periportal fibrosis	1/7	OMIM:615382
203286	ANKS6	HP:0003593	Infantile onset	1/7	OMIM:615382
203286	ANKS6	HP:0003577	Congenital onset	1/7	OMIM:615382
203286	ANKS6	HP:0003621	Juvenile onset	3/7	OMIM:615382
203286	ANKS6	HP:0011463	Childhood onset	2/7	OMIM:615382
203286	ANKS6	HP:0001696	Situs inversus totalis	1/7	OMIM:615382
203286	ANKS6	HP:0001650	Aortic valve stenosis	4/7	OMIM:615382
203286	ANKS6	HP:0001643	Patent ductus arteriosus	1/7	OMIM:615382
203286	ANKS6	HP:0001642	Pulmonic stenosis	1/7	OMIM:615382
203286	ANKS6	HP:0001639	Hypertrophic cardiomyopathy	1/7	OMIM:615382
203547	VMA21	HP:0002486	Myotonia	-	OMIM:310440
203547	VMA21	HP:0003713	Muscle fiber necrosis	0/14	OMIM:310440
203547	VMA21	HP:0001270	Motor delay	HP:0040283	OMIM:310440
203547	VMA21	HP:0001249	Intellectual disability	0/45	OMIM:310440
203547	VMA21	HP:0003829	Typified by incomplete penetrance	-	OMIM:310440
203547	VMA21	HP:0001371	Flexion contracture	HP:0040283	OMIM:310440
203547	VMA21	HP:0002650	Scoliosis	HP:0040283	OMIM:310440
203547	VMA21	HP:0001319	Neonatal hypotonia	HP:0040283	OMIM:310440
203547	VMA21	HP:0008994	Proximal muscle weakness in lower limbs	45/45	OMIM:310440
203547	VMA21	HP:0008956	Proximal lower limb amyotrophy	45/45	OMIM:310440
203547	VMA21	HP:0001419	X-linked recessive inheritance	-	OMIM:310440
203547	VMA21	HP:0002093	Respiratory insufficiency	HP:0040283	OMIM:310440
203547	VMA21	HP:0003391	Gowers sign	-	OMIM:310440
203547	VMA21	HP:0003551	Difficulty climbing stairs	-	OMIM:310440
203547	VMA21	HP:0003677	Slowly progressive	-	OMIM:310440
203547	VMA21	HP:0009046	Difficulty running	-	OMIM:310440
203547	VMA21	HP:0011463	Childhood onset	45/45	OMIM:310440
203547	VMA21	HP:0003198	Myopathy	-	OMIM:310440
203547	VMA21	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:310440
203547	VMA21	HP:0003202	Skeletal muscle atrophy	-	OMIM:310440
203547	VMA21	HP:0001626	Abnormality of the cardiovascular system	0/45	OMIM:310440
203547	VMA21	HP:0007941	Limited extraocular movements	HP:0040283	OMIM:310440
203547	VMA21	HP:0025717	Skeletal muscle autophagosome accumulation	14/14	OMIM:310440
203859	ANO5	HP:0007210	Lower limb amyotrophy	HP:0040282	ORPHA:206549
203859	ANO5	HP:0003749	Pelvic girdle muscle weakness	12/12	OMIM:611307
203859	ANO5	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
203859	ANO5	HP:0003730	EMG: myotonic runs	HP:0040282	ORPHA:206549
203859	ANO5	HP:0003731	Quadriceps muscle weakness	5/12	OMIM:613319
203859	ANO5	HP:0003738	Exercise-induced myalgia	HP:0040282	ORPHA:206549
203859	ANO5	HP:0003707	Calf muscle pseudohypertrophy	HP:0040283	ORPHA:399096
203859	ANO5	HP:0003701	Proximal muscle weakness	11/12	OMIM:611307
203859	ANO5	HP:0001293	Cranial nerve compression	-	OMIM:131300
203859	ANO5	HP:0001288	Gait disturbance	HP:0040282	ORPHA:399096
203859	ANO5	HP:0001252	Hypotonia	2/7	OMIM:615777
203859	ANO5	HP:0001249	Intellectual disability	5/7	OMIM:615777
203859	ANO5	HP:0001263	Global developmental delay	-	OMIM:615777
203859	ANO5	HP:0001239	Wrist flexion contracture	HP:0040283	ORPHA:206549
203859	ANO5	HP:0002515	Waddling gait	54/102	OMIM:131300
203859	ANO5	HP:0002515	Waddling gait	HP:0040282	ORPHA:399096
203859	ANO5	HP:0001371	Flexion contracture	HP:0040283	ORPHA:206549
203859	ANO5	HP:0001382	Joint hypermobility	-	OMIM:615777
203859	ANO5	HP:0002694	Sclerosis of skull base	-	OMIM:131300
203859	ANO5	HP:0008897	Postnatal growth retardation	-	OMIM:615777
203859	ANO5	HP:0002659	Increased susceptibility to fractures	-	OMIM:166260
203859	ANO5	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
203859	ANO5	HP:0001324	Muscle weakness	40/96	OMIM:131300
203859	ANO5	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
203859	ANO5	HP:0000007	Autosomal recessive inheritance	-	OMIM:613319
203859	ANO5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
203859	ANO5	HP:0000007	Autosomal recessive inheritance	-	OMIM:611307
203859	ANO5	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
203859	ANO5	HP:0000006	Autosomal dominant inheritance	-	OMIM:166260
203859	ANO5	HP:0002650	Scoliosis	HP:0040283	ORPHA:53697
203859	ANO5	HP:0002650	Scoliosis	12/14	OMIM:131300
203859	ANO5	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
203859	ANO5	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
203859	ANO5	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
203859	ANO5	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
203859	ANO5	HP:0000175	Cleft palate	2/7	OMIM:615777
203859	ANO5	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040281	ORPHA:206549
203859	ANO5	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040283	ORPHA:399096
203859	ANO5	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040282	ORPHA:206549
203859	ANO5	HP:0008981	Calf muscle hypertrophy	4/12	OMIM:613319
203859	ANO5	HP:0008981	Calf muscle hypertrophy	4/12	OMIM:611307
203859	ANO5	HP:0008981	Calf muscle hypertrophy	HP:0040283	ORPHA:206549
203859	ANO5	HP:0008988	Pelvic girdle muscle atrophy	HP:0040282	ORPHA:206549
203859	ANO5	HP:0007626	Mandibular osteomyelitis	HP:0040282	ORPHA:53697
203859	ANO5	HP:0008959	Distal upper limb muscle weakness	0/12	OMIM:613319
203859	ANO5	HP:0001430	Abnormal calf musculature morphology	HP:0040282	ORPHA:206549
203859	ANO5	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:53697
203859	ANO5	HP:0002754	Osteomyelitis	-	OMIM:166260
203859	ANO5	HP:0031237	Internally nucleated skeletal muscle fibers	HP:0040282	ORPHA:206549
203859	ANO5	HP:0003326	Myalgia	-	OMIM:611307
203859	ANO5	HP:0003326	Myalgia	HP:0040281	ORPHA:206549
203859	ANO5	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:399096
203859	ANO5	HP:0003388	Easy fatigability	36/76	OMIM:131300
203859	ANO5	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
203859	ANO5	HP:0003482	EMG: axonal abnormality	HP:0040282	ORPHA:206549
203859	ANO5	HP:0003458	EMG: myopathic abnormalities	-	OMIM:611307
203859	ANO5	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:206549
203859	ANO5	HP:0003445	EMG: neuropathic changes	HP:0040282	ORPHA:206549
203859	ANO5	HP:0003596	Middle age onset	6/12	OMIM:613319
203859	ANO5	HP:0003596	Middle age onset	5/10	OMIM:611307
203859	ANO5	HP:0003555	Muscle fiber splitting	HP:0040282	ORPHA:206549
203859	ANO5	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:399096
203859	ANO5	HP:0003551	Difficulty climbing stairs	-	OMIM:613319
203859	ANO5	HP:0003547	Shoulder girdle muscle weakness	-	OMIM:611307
203859	ANO5	HP:0003560	Muscular dystrophy	-	OMIM:613319
203859	ANO5	HP:0003560	Muscular dystrophy	-	OMIM:611307
203859	ANO5	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:206549
203859	ANO5	HP:0008331	Elevated creatine kinase after exercise	-	ORPHA:206599
203859	ANO5	HP:0010628	Facial palsy	-	OMIM:611307
203859	ANO5	HP:0010628	Facial palsy	HP:0040283	ORPHA:206549
203859	ANO5	HP:0003510	Severe short stature	7/7	OMIM:615777
203859	ANO5	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:399096
203859	ANO5	HP:0003691	Scapular winging	HP:0040283	ORPHA:206549
203859	ANO5	HP:0003676	Progressive	-	OMIM:611307
203859	ANO5	HP:0002315	Headache	-	OMIM:131300
203859	ANO5	HP:0004976	Knee dislocation	6/7	OMIM:615777
203859	ANO5	HP:0009803	Short phalanx of finger	-	OMIM:615777
203859	ANO5	HP:0009763	Limb pain	63/92	OMIM:131300
203859	ANO5	HP:0003621	Juvenile onset	-	OMIM:166260
203859	ANO5	HP:0003621	Juvenile onset	-	OMIM:131300
203859	ANO5	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
203859	ANO5	HP:0009073	Progressive proximal muscle weakness	HP:0040283	ORPHA:399096
203859	ANO5	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
203859	ANO5	HP:6001056	Out-toeing	-	OMIM:131300
203859	ANO5	HP:0000651	Diplopia	-	OMIM:131300
203859	ANO5	HP:0001956	Truncal obesity	2/7	OMIM:615777
203859	ANO5	HP:0001903	Anemia	HP:0040283	OMIM:131300
203859	ANO5	HP:0010049	Short metacarpal	-	OMIM:615777
203859	ANO5	HP:0009050	Quadriceps muscle atrophy	7/12	OMIM:613319
203859	ANO5	HP:0009050	Quadriceps muscle atrophy	6/7	OMIM:611307
203859	ANO5	HP:0009050	Quadriceps muscle atrophy	HP:0040282	ORPHA:206549
203859	ANO5	HP:0009053	Distal lower limb muscle weakness	HP:0040281	ORPHA:399096
203859	ANO5	HP:0009053	Distal lower limb muscle weakness	7/12	OMIM:613319
203859	ANO5	HP:0009053	Distal lower limb muscle weakness	HP:0040281	ORPHA:206549
203859	ANO5	HP:0009046	Difficulty running	HP:0040282	ORPHA:399096
203859	ANO5	HP:0009046	Difficulty running	-	OMIM:613319
203859	ANO5	HP:0009049	Peroneal muscle atrophy	-	ORPHA:399096
203859	ANO5	HP:0009025	Increased connective tissue	-	OMIM:611307
203859	ANO5	HP:0000678	Dental crowding	-	OMIM:615777
203859	ANO5	HP:0000670	Carious teeth	-	OMIM:131300
203859	ANO5	HP:0011304	Broad thumb	2/7	OMIM:615777
203859	ANO5	HP:0000668	Hypodontia	-	OMIM:615777
203859	ANO5	HP:0000664	Synophrys	-	OMIM:615777
203859	ANO5	HP:0004303	Abnormal muscle fiber morphology	HP:0040282	ORPHA:206549
203859	ANO5	HP:0003089	Hamstring contractures	HP:0040283	ORPHA:206549
203859	ANO5	HP:0004396	Poor appetite	-	OMIM:131300
203859	ANO5	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
203859	ANO5	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
203859	ANO5	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
203859	ANO5	HP:0003026	Short long bone	7/7	OMIM:615777
203859	ANO5	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
203859	ANO5	HP:0000767	Pectus excavatum	2/7	OMIM:615777
203859	ANO5	HP:0000768	Pectus carinatum	1/7	OMIM:615777
203859	ANO5	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
203859	ANO5	HP:0000750	Delayed speech and language development	-	OMIM:615777
203859	ANO5	HP:0012785	Flexion contracture of finger	HP:0040283	ORPHA:206549
203859	ANO5	HP:0011462	Young adult onset	5/10	OMIM:611307
203859	ANO5	HP:0011462	Young adult onset	6/12	OMIM:613319
203859	ANO5	HP:0011461	Fetal onset	7/7	OMIM:615777
203859	ANO5	HP:0000774	Narrow chest	2/7	OMIM:615777
203859	ANO5	HP:0009129	Upper limb amyotrophy	HP:0040283	ORPHA:206549
203859	ANO5	HP:0003198	Myopathy	-	ORPHA:206599
203859	ANO5	HP:0000926	Platyspondyly	1/7	OMIM:615777
203859	ANO5	HP:0003180	Flat acetabular roof	-	OMIM:615777
203859	ANO5	HP:0004482	Relative macrocephaly	-	OMIM:615777
203859	ANO5	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
203859	ANO5	HP:0012802	Broad jaw	HP:0040281	ORPHA:53697
203859	ANO5	HP:0000823	Delayed puberty	-	OMIM:131300
203859	ANO5	HP:0000894	Short clavicles	-	OMIM:615777
203859	ANO5	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040280	ORPHA:206599
203859	ANO5	HP:0003236	Elevated circulating creatine kinase concentration	12/12	OMIM:611307
203859	ANO5	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:206549
203859	ANO5	HP:0003236	Elevated circulating creatine kinase concentration	12/12	OMIM:613319
203859	ANO5	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
203859	ANO5	HP:0003201	Rhabdomyolysis	HP:0040284	ORPHA:399096
203859	ANO5	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
203859	ANO5	HP:0000935	Thickened cortex of long bones	HP:0040281	ORPHA:53697
203859	ANO5	HP:0000938	Osteopenia	-	OMIM:166260
203859	ANO5	HP:0000938	Osteopenia	HP:0040282	ORPHA:53697
203859	ANO5	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:206549
203859	ANO5	HP:0100297	Increased endomysial connective tissue	HP:0040282	ORPHA:206549
203859	ANO5	HP:0000286	Epicanthus	1/7	OMIM:615777
203859	ANO5	HP:0000280	Coarse facial features	2/7	OMIM:615777
203859	ANO5	HP:0006466	Ankle flexion contracture	HP:0040283	ORPHA:206549
203859	ANO5	HP:0002816	Genu recurvatum	HP:0040282	ORPHA:206549
203859	ANO5	HP:0002827	Hip dislocation	3/7	OMIM:615777
203859	ANO5	HP:0005045	Diaphyseal cortical sclerosis	-	OMIM:166260
203859	ANO5	HP:0000252	Microcephaly	-	OMIM:615777
203859	ANO5	HP:0002857	Genu valgum	-	OMIM:131300
203859	ANO5	HP:0001533	Slender build	-	OMIM:131300
203859	ANO5	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
203859	ANO5	HP:0007807	Optic nerve compression	-	OMIM:131300
203859	ANO5	HP:0012368	Flat face	7/7	OMIM:615777
203859	ANO5	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
203859	ANO5	HP:0002913	Myoglobinuria	HP:0040283	ORPHA:206549
203859	ANO5	HP:0006487	Bowing of the long bones	HP:0040281	ORPHA:53697
203859	ANO5	HP:0006487	Bowing of the long bones	-	OMIM:166260
203859	ANO5	HP:0000365	Hearing impairment	10/67	OMIM:131300
203859	ANO5	HP:0000343	Long philtrum	1/7	OMIM:615777
203859	ANO5	HP:0011001	Increased bone mineral density	-	OMIM:131300
203859	ANO5	HP:0000311	Round face	2/7	OMIM:615777
203859	ANO5	HP:0002987	Elbow flexion contracture	HP:0040283	ORPHA:206549
203859	ANO5	HP:0002970	Genu varum	-	OMIM:615777
203859	ANO5	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:206549
203859	ANO5	HP:0000303	Mandibular prognathia	-	OMIM:131300
203859	ANO5	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
203859	ANO5	HP:0030234	Highly elevated creatine kinase	HP:0040282	ORPHA:399096
203859	ANO5	HP:0000470	Short neck	1/7	OMIM:615777
203859	ANO5	HP:0001769	Broad foot	HP:0040283	OMIM:615777
203859	ANO5	HP:0001763	Pes planus	1/7	OMIM:615777
203859	ANO5	HP:0006785	Limb-girdle muscular dystrophy	HP:0040281	ORPHA:206549
203859	ANO5	HP:0001840	Metatarsus adductus	-	OMIM:615777
203859	ANO5	HP:0000520	Proptosis	2/4	OMIM:131300
203859	ANO5	HP:0000520	Proptosis	7/7	OMIM:615777
203859	ANO5	HP:0000592	Blue sclerae	2/7	OMIM:615777
203859	ANO5	HP:0012548	Fatty replacement of skeletal muscle	HP:0040282	ORPHA:206549
203859	ANO5	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
203859	ANO5	HP:0012514	Lower limb pain	4/4	OMIM:131300
204219	CERS3	HP:0025114	Hypergranulosis	-	OMIM:615023
204219	CERS3	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	6/6	OMIM:615023
204219	CERS3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615023
204219	CERS3	HP:0033252	Palmar hyperlinearity	5/5	OMIM:615023
204219	CERS3	HP:0003577	Congenital onset	6/6	OMIM:615023
204219	CERS3	HP:0001019	Erythroderma	6/6	OMIM:615023
204219	CERS3	HP:0001019	Erythroderma	HP:0040281	ORPHA:79394
204219	CERS3	HP:0200020	Corneal erosion	HP:0040282	ORPHA:79394
204219	CERS3	HP:0025092	Epidermal acanthosis	1/1	OMIM:615023
204219	CERS3	HP:0000656	Ectropion	1/1	OMIM:615023
204219	CERS3	HP:0000656	Ectropion	HP:0040281	ORPHA:79394
204219	CERS3	HP:0004322	Short stature	HP:0040283	ORPHA:79394
204219	CERS3	HP:0000989	Pruritus	HP:0040281	ORPHA:79394
204219	CERS3	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:79394
204219	CERS3	HP:0000966	Hypohidrosis	1/1	OMIM:615023
204219	CERS3	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:79394
204219	CERS3	HP:0000962	Hyperkeratosis	5/5	OMIM:615023
204219	CERS3	HP:0040162	Orthokeratosis	1/1	OMIM:615023
204219	CERS3	HP:0008064	Ichthyosis	HP:0040281	ORPHA:79394
204219	CERS3	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:79394
204219	CERS3	HP:0001596	Alopecia	HP:0040282	ORPHA:79394
204219	CERS3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79394
204219	CERS3	HP:0000365	Hearing impairment	HP:0040282	ORPHA:79394
204219	CERS3	HP:0012472	Eclabion	1/1	OMIM:615023
204219	CERS3	HP:0000491	Keratitis	HP:0040282	ORPHA:79394
205327	C2orf69	HP:0003700	Generalized amyotrophy	8/8	OMIM:619423
205327	C2orf69	HP:0001250	Seizure	11/11	OMIM:619423
205327	C2orf69	HP:0001252	Hypotonia	9/11	OMIM:619423
205327	C2orf69	HP:0001263	Global developmental delay	12/12	OMIM:619423
205327	C2orf69	HP:0001257	Spasticity	4/7	OMIM:619423
205327	C2orf69	HP:0003819	Death in childhood	2/12	OMIM:619423
205327	C2orf69	HP:0001369	Arthritis	3/9	OMIM:619423
205327	C2orf69	HP:0000007	Autosomal recessive inheritance	-	OMIM:619423
205327	C2orf69	HP:0002754	Osteomyelitis	2/8	OMIM:619423
205327	C2orf69	HP:0003429	CNS hypomyelination	6/7	OMIM:619423
205327	C2orf69	HP:0003593	Infantile onset	6/10	OMIM:619423
205327	C2orf69	HP:0003577	Congenital onset	2/10	OMIM:619423
205327	C2orf69	HP:0002240	Hepatomegaly	2/8	OMIM:619423
205327	C2orf69	HP:0004840	Hypochromic microcytic anemia	4/4	OMIM:619423
205327	C2orf69	HP:0003623	Neonatal onset	2/10	OMIM:619423
205327	C2orf69	HP:0001954	Recurrent fever	8/9	OMIM:619423
205327	C2orf69	HP:0006989	Dysplastic corpus callosum	8/10	OMIM:619423
205327	C2orf69	HP:0004322	Short stature	7/7	OMIM:619423
205327	C2orf69	HP:0003095	Septic arthritis	2/9	OMIM:619423
205327	C2orf69	HP:0003270	Abdominal distention	4/8	OMIM:619423
205327	C2orf69	HP:0001522	Death in infancy	7/12	OMIM:619423
205327	C2orf69	HP:0001508	Failure to thrive	9/9	OMIM:619423
205327	C2orf69	HP:0005484	Secondary microcephaly	9/10	OMIM:619423
205327	C2orf69	HP:0011227	Elevated circulating C-reactive protein concentration	5/8	OMIM:619423
205717	USF3	HP:0001156	Brachydactyly	HP:0040283	ORPHA:201
205717	USF3	HP:0001250	Seizure	HP:0040283	ORPHA:201
205717	USF3	HP:0001251	Ataxia	HP:0040282	ORPHA:201
205717	USF3	HP:0001249	Intellectual disability	HP:0040282	ORPHA:201
205717	USF3	HP:0001263	Global developmental delay	HP:0040282	ORPHA:201
205717	USF3	HP:0008675	Enlarged polycystic ovaries	HP:0040283	ORPHA:201
205717	USF3	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:201
205717	USF3	HP:0012062	Bone cyst	HP:0040283	ORPHA:201
205717	USF3	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:201
205717	USF3	HP:0012032	Lipoma	HP:0040282	ORPHA:201
205717	USF3	HP:0000036	Abnormal penis morphology	HP:0040282	ORPHA:201
205717	USF3	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:201
205717	USF3	HP:0002664	Neoplasm	HP:0040282	ORPHA:201
205717	USF3	HP:0002650	Scoliosis	HP:0040283	ORPHA:201
205717	USF3	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:201
205717	USF3	HP:0000158	Macroglossia	HP:0040282	ORPHA:201
205717	USF3	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:201
205717	USF3	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:201
205717	USF3	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:201
205717	USF3	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:201
205717	USF3	HP:0100579	Mucosal telangiectasiae	HP:0040282	ORPHA:201
205717	USF3	HP:0100780	Conjunctival hamartoma	HP:0040281	ORPHA:201
205717	USF3	HP:0009720	Adenoma sebaceum	HP:0040282	ORPHA:201
205717	USF3	HP:0010614	Fibroma	HP:0040282	ORPHA:201
205717	USF3	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:201
205717	USF3	HP:0001048	Cavernous hemangioma	HP:0040282	ORPHA:201
205717	USF3	HP:0200034	Papule	HP:0040281	ORPHA:201
205717	USF3	HP:0200063	Colorectal polyposis	HP:0040281	ORPHA:201
205717	USF3	HP:0005595	Generalized hyperkeratosis	HP:0040281	ORPHA:201
205717	USF3	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:201
205717	USF3	HP:0004322	Short stature	HP:0040283	ORPHA:201
205717	USF3	HP:0003002	Breast carcinoma	HP:0040281	ORPHA:201
205717	USF3	HP:0004390	Hamartomatous polyposis	HP:0040282	ORPHA:201
205717	USF3	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:201
205717	USF3	HP:0000771	Gynecomastia	HP:0040283	ORPHA:201
205717	USF3	HP:0012733	Macule	HP:0040281	ORPHA:201
205717	USF3	HP:0012740	Papilloma	HP:0040281	ORPHA:201
205717	USF3	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:201
205717	USF3	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:201
205717	USF3	HP:0000717	Autism	HP:0040283	ORPHA:201
205717	USF3	HP:0000853	Goiter	HP:0040281	ORPHA:201
205717	USF3	HP:0000820	Abnormality of the thyroid gland	HP:0040282	ORPHA:201
205717	USF3	HP:0000995	Melanocytic nevus	HP:0040282	ORPHA:201
205717	USF3	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:201
205717	USF3	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:201
205717	USF3	HP:0000256	Macrocephaly	HP:0040282	ORPHA:201
205717	USF3	HP:0002808	Kyphosis	HP:0040283	ORPHA:201
205717	USF3	HP:0000221	Furrowed tongue	HP:0040282	ORPHA:201
205717	USF3	HP:0000218	High palate	HP:0040283	ORPHA:201
205717	USF3	HP:0002861	Melanoma	HP:0040283	ORPHA:201
205717	USF3	HP:0002858	Meningioma	HP:0040282	ORPHA:201
205717	USF3	HP:0001508	Failure to thrive	HP:0040283	ORPHA:201
205717	USF3	HP:0000365	Hearing impairment	HP:0040283	ORPHA:201
205717	USF3	HP:0005374	Cellular immunodeficiency	HP:0040283	ORPHA:201
205717	USF3	HP:0006731	Follicular thyroid carcinoma	HP:0040283	ORPHA:201
205717	USF3	HP:0000518	Cataract	HP:0040283	ORPHA:201
205717	USF3	HP:0000545	Myopia	HP:0040283	ORPHA:201
219285	SAMD9L	HP:0001272	Cerebellar atrophy	-	OMIM:159550
219285	SAMD9L	HP:0001272	Cerebellar atrophy	HP:0040281	ORPHA:2585
219285	SAMD9L	HP:0001272	Cerebellar atrophy	5/5	OMIM:619806
219285	SAMD9L	HP:0001288	Gait disturbance	HP:0040281	ORPHA:2585
219285	SAMD9L	HP:0001251	Ataxia	-	OMIM:159550
219285	SAMD9L	HP:0001251	Ataxia	HP:0040281	ORPHA:2585
219285	SAMD9L	HP:0001251	Ataxia	7/9	OMIM:619806
219285	SAMD9L	HP:0001260	Dysarthria	-	OMIM:159550
219285	SAMD9L	HP:0001260	Dysarthria	5/9	OMIM:619806
219285	SAMD9L	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:2585
219285	SAMD9L	HP:0003828	Variable expressivity	-	OMIM:159550
219285	SAMD9L	HP:0002505	Loss of ambulation	2/9	OMIM:619806
219285	SAMD9L	HP:0002500	Abnormal cerebral white matter morphology	1/9	OMIM:159550
219285	SAMD9L	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2585
219285	SAMD9L	HP:0001347	Hyperreflexia	9/9	OMIM:619806
219285	SAMD9L	HP:0000007	Autosomal recessive inheritance	-	OMIM:252270
219285	SAMD9L	HP:0000006	Autosomal dominant inheritance	-	OMIM:159550
219285	SAMD9L	HP:0000006	Autosomal dominant inheritance	-	OMIM:619806
219285	SAMD9L	HP:0001310	Dysmetria	-	OMIM:159550
219285	SAMD9L	HP:0001310	Dysmetria	7/9	OMIM:619806
219285	SAMD9L	HP:0003390	Sensory axonal neuropathy	5/9	OMIM:619806
219285	SAMD9L	HP:0002075	Dysdiadochokinesis	1/9	OMIM:619806
219285	SAMD9L	HP:0002071	Abnormality of extrapyramidal motor function	0/9	OMIM:619806
219285	SAMD9L	HP:0003487	Babinski sign	-	OMIM:159550
219285	SAMD9L	HP:0003487	Babinski sign	2/9	OMIM:619806
219285	SAMD9L	HP:0002166	Impaired vibration sensation in the lower limbs	-	OMIM:159550
219285	SAMD9L	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:2585
219285	SAMD9L	HP:0011869	Abnormal platelet function	HP:0040283	ORPHA:2585
219285	SAMD9L	HP:0003596	Middle age onset	6/9	OMIM:619806
219285	SAMD9L	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:2585
219285	SAMD9L	HP:0004820	Acute myelomonocytic leukemia	-	OMIM:159550
219285	SAMD9L	HP:0004820	Acute myelomonocytic leukemia	HP:0040282	ORPHA:2585
219285	SAMD9L	HP:0004808	Acute myeloid leukemia	11/12	OMIM:252270
219285	SAMD9L	HP:0002317	Unsteady gait	-	OMIM:159550
219285	SAMD9L	HP:0002317	Unsteady gait	-	OMIM:619806
219285	SAMD9L	HP:0002317	Unsteady gait	HP:0040281	ORPHA:2585
219285	SAMD9L	HP:0003621	Juvenile onset	2/9	OMIM:619806
219285	SAMD9L	HP:0005518	Increased mean corpuscular volume	-	OMIM:252270
219285	SAMD9L	HP:0006801	Hyperactive deep tendon reflexes	-	OMIM:159550
219285	SAMD9L	HP:0000640	Gaze-evoked nystagmus	9/9	OMIM:619806
219285	SAMD9L	HP:0000639	Nystagmus	-	OMIM:159550
219285	SAMD9L	HP:0000639	Nystagmus	HP:0040282	ORPHA:2585
219285	SAMD9L	HP:0000651	Diplopia	4/9	OMIM:619806
219285	SAMD9L	HP:0001908	Hypoplastic anemia	-	OMIM:159550
219285	SAMD9L	HP:0001908	Hypoplastic anemia	HP:0040282	ORPHA:2585
219285	SAMD9L	HP:0001903	Anemia	-	OMIM:159550
219285	SAMD9L	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040283	ORPHA:2585
219285	SAMD9L	HP:0004311	Abnormal macrophage morphology	HP:0040282	ORPHA:2585
219285	SAMD9L	HP:0000762	Decreased nerve conduction velocity	-	OMIM:159550
219285	SAMD9L	HP:0000726	Dementia	0/9	OMIM:619806
219285	SAMD9L	HP:0011448	Ankle clonus	-	OMIM:159550
219285	SAMD9L	HP:0000252	Microcephaly	HP:0040283	ORPHA:2585
219285	SAMD9L	HP:0002863	Myelodysplasia	-	OMIM:252270
219285	SAMD9L	HP:0002936	Distal sensory impairment	HP:0040283	OMIM:159550
219285	SAMD9L	HP:0000486	Strabismus	2/9	OMIM:619806
219285	SAMD9L	HP:0025710	Late young adult onset	1/9	OMIM:619806
219285	SAMD9L	HP:0001744	Splenomegaly	HP:0040282	ORPHA:2585
219285	SAMD9L	HP:0001761	Pes cavus	1/9	OMIM:619806
219285	SAMD9L	HP:0001874	Abnormality of neutrophils	HP:0040282	ORPHA:2585
219285	SAMD9L	HP:0001873	Thrombocytopenia	-	OMIM:159550
219285	SAMD9L	HP:0001873	Thrombocytopenia	-	OMIM:252270
219285	SAMD9L	HP:0001876	Pancytopenia	-	OMIM:159550
219285	SAMD9L	HP:0001876	Pancytopenia	HP:0040283	ORPHA:2585
219285	SAMD9L	HP:0001875	Decreased total neutrophil count	-	OMIM:159550
219736	STOX1	HP:0010982	Polygenic inheritance	-	OMIM:609404
219736	STOX1	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:275555
219736	STOX1	HP:0000093	Proteinuria	HP:0040281	ORPHA:275555
219736	STOX1	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:275555
219736	STOX1	HP:0000147	Polycystic ovaries	HP:0040284	ORPHA:275555
219736	STOX1	HP:0410019	Epigastric pain	HP:0040282	ORPHA:275555
219736	STOX1	HP:0002027	Abdominal pain	HP:0040283	ORPHA:275555
219736	STOX1	HP:0100598	Pulmonary edema	HP:0040282	ORPHA:275555
219736	STOX1	HP:0100767	Abnormal placenta morphology	HP:0040281	ORPHA:275555
219736	STOX1	HP:0002360	Sleep abnormality	HP:0040284	ORPHA:275555
219736	STOX1	HP:0002315	Headache	HP:0040283	ORPHA:275555
219736	STOX1	HP:0100651	Type I diabetes mellitus	HP:0040284	ORPHA:275555
219736	STOX1	HP:0100601	Eclampsia	-	OMIM:609404
219736	STOX1	HP:0100602	Preeclampsia	-	OMIM:609404
219736	STOX1	HP:0012622	Chronic kidney disease	HP:0040284	ORPHA:275555
219736	STOX1	HP:0001919	Acute kidney injury	HP:0040284	ORPHA:275555
219736	STOX1	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:275555
219736	STOX1	HP:0011462	Young adult onset	-	OMIM:609404
219736	STOX1	HP:0004421	Elevated systolic blood pressure	HP:0040281	ORPHA:275555
219736	STOX1	HP:0000822	Hypertension	HP:0040281	ORPHA:275555
219736	STOX1	HP:0003259	Elevated circulating creatinine concentration	HP:0040284	ORPHA:275555
219736	STOX1	HP:0031418	Increased body mass index	HP:0040283	ORPHA:275555
219736	STOX1	HP:0005117	Elevated diastolic blood pressure	HP:0040281	ORPHA:275555
219736	STOX1	HP:0001518	Small for gestational age	HP:0040283	ORPHA:275555
219736	STOX1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:275555
219736	STOX1	HP:0005202	Helicobacter pylori infection	HP:0040284	ORPHA:275555
219736	STOX1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:275555
219736	STOX1	HP:0002960	Autoimmunity	HP:0040284	ORPHA:275555
219736	STOX1	HP:0006707	Abnormality of the hepatic vasculature	HP:0040283	ORPHA:275555
219736	STOX1	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:275555
219736	STOX1	HP:0001873	Thrombocytopenia	HP:0040284	ORPHA:275555
219844	HYLS1	HP:0001177	Preaxial hand polydactyly	36/56	OMIM:236680
219844	HYLS1	HP:0001162	Postaxial hand polydactyly	29/56	OMIM:236680
219844	HYLS1	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:2189
219844	HYLS1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
219844	HYLS1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
219844	HYLS1	HP:0001293	Cranial nerve compression	-	OMIM:131300
219844	HYLS1	HP:0001274	Agenesis of corpus callosum	-	OMIM:236680
219844	HYLS1	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:2189
219844	HYLS1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
219844	HYLS1	HP:0001250	Seizure	HP:0040283	ORPHA:475
219844	HYLS1	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
219844	HYLS1	HP:0001252	Hypotonia	2/7	OMIM:615777
219844	HYLS1	HP:0001251	Ataxia	HP:0040281	ORPHA:475
219844	HYLS1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
219844	HYLS1	HP:0001249	Intellectual disability	5/7	OMIM:615777
219844	HYLS1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
219844	HYLS1	HP:0001263	Global developmental delay	-	OMIM:615777
219844	HYLS1	HP:0008749	Laryngeal hypoplasia	32/56	OMIM:236680
219844	HYLS1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
219844	HYLS1	HP:0002536	Abnormal cortical gyration	-	OMIM:236680
219844	HYLS1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
219844	HYLS1	HP:0002515	Waddling gait	54/102	OMIM:131300
219844	HYLS1	HP:0003826	Stillbirth	41/56	OMIM:236680
219844	HYLS1	HP:0001382	Joint hypermobility	-	OMIM:615777
219844	HYLS1	HP:0000047	Hypospadias	-	OMIM:236680
219844	HYLS1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
219844	HYLS1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2189
219844	HYLS1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
219844	HYLS1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
219844	HYLS1	HP:0001331	Absent septum pellucidum	-	OMIM:236680
219844	HYLS1	HP:0001331	Absent septum pellucidum	HP:0040281	ORPHA:2189
219844	HYLS1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
219844	HYLS1	HP:0001324	Muscle weakness	40/96	OMIM:131300
219844	HYLS1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
219844	HYLS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
219844	HYLS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:236680
219844	HYLS1	HP:0001337	Tremor	HP:0040283	ORPHA:475
219844	HYLS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
219844	HYLS1	HP:0001305	Dandy-Walker malformation	-	OMIM:236680
219844	HYLS1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
219844	HYLS1	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
219844	HYLS1	HP:0002650	Scoliosis	12/14	OMIM:131300
219844	HYLS1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
219844	HYLS1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
219844	HYLS1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
219844	HYLS1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
219844	HYLS1	HP:0000193	Bifid uvula	HP:0040282	ORPHA:2189
219844	HYLS1	HP:0000161	Median cleft upper lip	-	OMIM:236680
219844	HYLS1	HP:0000176	Submucous cleft hard palate	HP:0040282	ORPHA:2189
219844	HYLS1	HP:0000175	Cleft palate	-	OMIM:236680
219844	HYLS1	HP:0000175	Cleft palate	HP:0040282	ORPHA:2189
219844	HYLS1	HP:0000175	Cleft palate	2/7	OMIM:615777
219844	HYLS1	HP:0000142	Abnormal vagina morphology	-	OMIM:236680
219844	HYLS1	HP:0000136	Bifid uterus	50%	OMIM:236680
219844	HYLS1	HP:0008986	Agenesis of the diaphragm	-	OMIM:236680
219844	HYLS1	HP:0002777	Tracheal stenosis	29/38	OMIM:236680
219844	HYLS1	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
219844	HYLS1	HP:0000126	Hydronephrosis	-	OMIM:236680
219844	HYLS1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
219844	HYLS1	HP:0011803	Bifid nose	-	OMIM:236680
219844	HYLS1	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:2189
219844	HYLS1	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
219844	HYLS1	HP:0003388	Easy fatigability	36/76	OMIM:131300
219844	HYLS1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
219844	HYLS1	HP:0002139	Arrhinencephaly	HP:0040283	ORPHA:2189
219844	HYLS1	HP:0002139	Arrhinencephaly	-	OMIM:236680
219844	HYLS1	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
219844	HYLS1	HP:0002101	Abnormal lung lobation	35/56	OMIM:236680
219844	HYLS1	HP:0002104	Apnea	HP:0040281	ORPHA:475
219844	HYLS1	HP:0008216	Adrenal gland dysgenesis	-	OMIM:236680
219844	HYLS1	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
219844	HYLS1	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
219844	HYLS1	HP:0002282	Gray matter heterotopia	-	OMIM:236680
219844	HYLS1	HP:0003510	Severe short stature	7/7	OMIM:615777
219844	HYLS1	HP:0002323	Anencephaly	3/56	OMIM:236680
219844	HYLS1	HP:0002323	Anencephaly	HP:0040283	ORPHA:2189
219844	HYLS1	HP:0002315	Headache	-	OMIM:131300
219844	HYLS1	HP:0004976	Knee dislocation	6/7	OMIM:615777
219844	HYLS1	HP:0100682	Tracheal atresia	HP:0040282	ORPHA:2189
219844	HYLS1	HP:0009824	Upper limb undergrowth	-	OMIM:236680
219844	HYLS1	HP:0009803	Short phalanx of finger	-	OMIM:615777
219844	HYLS1	HP:0009763	Limb pain	63/92	OMIM:131300
219844	HYLS1	HP:0009752	Cleft in skull base	42/56	OMIM:236680
219844	HYLS1	HP:0003621	Juvenile onset	-	OMIM:131300
219844	HYLS1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
219844	HYLS1	HP:0010066	Duplication of phalanx of hallux	-	OMIM:236680
219844	HYLS1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
219844	HYLS1	HP:0006882	Severe hydrocephalus	47/56	OMIM:236680
219844	HYLS1	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
219844	HYLS1	HP:6001056	Out-toeing	-	OMIM:131300
219844	HYLS1	HP:0000651	Diplopia	-	OMIM:131300
219844	HYLS1	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
219844	HYLS1	HP:0001956	Truncal obesity	2/7	OMIM:615777
219844	HYLS1	HP:0001903	Anemia	HP:0040283	OMIM:131300
219844	HYLS1	HP:0010049	Short metacarpal	-	OMIM:615777
219844	HYLS1	HP:0000678	Dental crowding	-	OMIM:615777
219844	HYLS1	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
219844	HYLS1	HP:0000670	Carious teeth	-	OMIM:131300
219844	HYLS1	HP:0011304	Broad thumb	2/7	OMIM:615777
219844	HYLS1	HP:0000668	Hypodontia	-	OMIM:615777
219844	HYLS1	HP:0000664	Synophrys	-	OMIM:615777
219844	HYLS1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
219844	HYLS1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:2189
219844	HYLS1	HP:0030690	Gingival cleft	HP:0040282	ORPHA:2189
219844	HYLS1	HP:0004396	Poor appetite	-	OMIM:131300
219844	HYLS1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
219844	HYLS1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
219844	HYLS1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
219844	HYLS1	HP:0003026	Short long bone	7/7	OMIM:615777
219844	HYLS1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
219844	HYLS1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
219844	HYLS1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
219844	HYLS1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
219844	HYLS1	HP:0000750	Delayed speech and language development	-	OMIM:615777
219844	HYLS1	HP:0011461	Fetal onset	7/7	OMIM:615777
219844	HYLS1	HP:0000774	Narrow chest	2/7	OMIM:615777
219844	HYLS1	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
219844	HYLS1	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:2189
219844	HYLS1	HP:0000926	Platyspondyly	1/7	OMIM:615777
219844	HYLS1	HP:0003180	Flat acetabular roof	-	OMIM:615777
219844	HYLS1	HP:0004482	Relative macrocephaly	-	OMIM:615777
219844	HYLS1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
219844	HYLS1	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
219844	HYLS1	HP:0100333	Unilateral cleft lip	HP:0040282	ORPHA:2189
219844	HYLS1	HP:0000823	Delayed puberty	-	OMIM:131300
219844	HYLS1	HP:0000894	Short clavicles	-	OMIM:615777
219844	HYLS1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
219844	HYLS1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
219844	HYLS1	HP:0000286	Epicanthus	1/7	OMIM:615777
219844	HYLS1	HP:0000280	Coarse facial features	2/7	OMIM:615777
219844	HYLS1	HP:0000278	Retrognathia	HP:0040281	ORPHA:2189
219844	HYLS1	HP:0000276	Long face	HP:0040282	ORPHA:475
219844	HYLS1	HP:0002827	Hip dislocation	3/7	OMIM:615777
219844	HYLS1	HP:0006379	Proximal tibial hypoplasia	-	OMIM:236680
219844	HYLS1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
219844	HYLS1	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:2189
219844	HYLS1	HP:0000252	Microcephaly	-	OMIM:615777
219844	HYLS1	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
219844	HYLS1	HP:0001561	Polyhydramnios	51/56	OMIM:236680
219844	HYLS1	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:2189
219844	HYLS1	HP:0002857	Genu valgum	-	OMIM:131300
219844	HYLS1	HP:0001539	Omphalocele	-	OMIM:236680
219844	HYLS1	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
219844	HYLS1	HP:0001533	Slender build	-	OMIM:131300
219844	HYLS1	HP:0001511	Intrauterine growth retardation	-	OMIM:236680
219844	HYLS1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
219844	HYLS1	HP:0007807	Optic nerve compression	-	OMIM:131300
219844	HYLS1	HP:0012368	Flat face	7/7	OMIM:615777
219844	HYLS1	HP:0000377	Abnormal pinna morphology	36/56	OMIM:236680
219844	HYLS1	HP:0011027	Abnormal fallopian tube morphology	HP:0040283	ORPHA:2189
219844	HYLS1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
219844	HYLS1	HP:0001601	Laryngomalacia	HP:0040282	ORPHA:2189
219844	HYLS1	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
219844	HYLS1	HP:0000365	Hearing impairment	10/67	OMIM:131300
219844	HYLS1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2189
219844	HYLS1	HP:0000369	Low-set ears	36/56	OMIM:236680
219844	HYLS1	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
219844	HYLS1	HP:0000369	Low-set ears	HP:0040282	ORPHA:2189
219844	HYLS1	HP:0001674	Complete atrioventricular canal defect	-	OMIM:236680
219844	HYLS1	HP:0000343	Long philtrum	1/7	OMIM:615777
219844	HYLS1	HP:0011001	Increased bone mineral density	-	OMIM:131300
219844	HYLS1	HP:0000347	Micrognathia	56/56	OMIM:236680
219844	HYLS1	HP:0000347	Micrognathia	HP:0040281	ORPHA:2189
219844	HYLS1	HP:0002983	Micromelia	HP:0040283	ORPHA:2189
219844	HYLS1	HP:0000311	Round face	2/7	OMIM:615777
219844	HYLS1	HP:0001629	Ventricular septal defect	-	OMIM:236680
219844	HYLS1	HP:0001622	Premature birth	HP:0040281	ORPHA:2189
219844	HYLS1	HP:0002970	Genu varum	-	OMIM:615777
219844	HYLS1	HP:0000303	Mandibular prognathia	-	OMIM:131300
219844	HYLS1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
219844	HYLS1	HP:0000486	Strabismus	HP:0040283	ORPHA:475
219844	HYLS1	HP:0000490	Deeply set eye	HP:0040282	ORPHA:2189
219844	HYLS1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
219844	HYLS1	HP:0000475	Broad neck	-	OMIM:236680
219844	HYLS1	HP:0000470	Short neck	1/7	OMIM:615777
219844	HYLS1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
219844	HYLS1	HP:0001763	Pes planus	1/7	OMIM:615777
219844	HYLS1	HP:0001747	Accessory spleen	-	OMIM:236680
219844	HYLS1	HP:0001762	Talipes equinovarus	27/56	OMIM:236680
219844	HYLS1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
219844	HYLS1	HP:0004122	Midline defect of the nose	50/56	OMIM:236680
219844	HYLS1	HP:0001840	Metatarsus adductus	-	OMIM:615777
219844	HYLS1	HP:0000528	Anophthalmia	HP:0040283	ORPHA:2189
219844	HYLS1	HP:0000520	Proptosis	2/4	OMIM:131300
219844	HYLS1	HP:0000520	Proptosis	7/7	OMIM:615777
219844	HYLS1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
219844	HYLS1	HP:0000508	Ptosis	HP:0040283	ORPHA:475
219844	HYLS1	HP:0000592	Blue sclerae	2/7	OMIM:615777
219844	HYLS1	HP:0000568	Microphthalmia	49/56	OMIM:236680
219844	HYLS1	HP:0000568	Microphthalmia	HP:0040283	ORPHA:2189
219844	HYLS1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
219844	HYLS1	HP:0012514	Lower limb pain	4/4	OMIM:131300
219854	TMEM218	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:475
219854	TMEM218	HP:0002419	Molar tooth sign on MRI	2/8	OMIM:619562
219854	TMEM218	HP:0001288	Gait disturbance	HP:0040282	ORPHA:475
219854	TMEM218	HP:0001250	Seizure	HP:0040283	ORPHA:475
219854	TMEM218	HP:0001252	Hypotonia	HP:0040281	ORPHA:475
219854	TMEM218	HP:0001251	Ataxia	HP:0040281	ORPHA:475
219854	TMEM218	HP:0001249	Intellectual disability	HP:0040281	ORPHA:475
219854	TMEM218	HP:0001263	Global developmental delay	4/4	OMIM:619562
219854	TMEM218	HP:0001263	Global developmental delay	HP:0040281	ORPHA:475
219854	TMEM218	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:475
219854	TMEM218	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:475
219854	TMEM218	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:475
219854	TMEM218	HP:0000007	Autosomal recessive inheritance	-	OMIM:619562
219854	TMEM218	HP:0001337	Tremor	HP:0040283	ORPHA:475
219854	TMEM218	HP:0001320	Cerebellar vermis hypoplasia	1/8	OMIM:619562
219854	TMEM218	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:475
219854	TMEM218	HP:0002650	Scoliosis	HP:0040283	ORPHA:475
219854	TMEM218	HP:0000113	Polycystic kidney dysplasia	1/8	OMIM:619562
219854	TMEM218	HP:0002793	Abnormal pattern of respiration	HP:0040281	ORPHA:475
219854	TMEM218	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:475
219854	TMEM218	HP:0002085	Occipital encephalocele	5/8	OMIM:619562
219854	TMEM218	HP:0002084	Encephalocele	HP:0040283	ORPHA:475
219854	TMEM218	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:475
219854	TMEM218	HP:0002104	Apnea	HP:0040281	ORPHA:475
219854	TMEM218	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:475
219854	TMEM218	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:475
219854	TMEM218	HP:0007021	Pain insensitivity	1/4	OMIM:619562
219854	TMEM218	HP:0000639	Nystagmus	HP:0040282	ORPHA:475
219854	TMEM218	HP:0000612	Iris coloboma	HP:0040283	ORPHA:475
219854	TMEM218	HP:0000657	Oculomotor apraxia	1/4	OMIM:619562
219854	TMEM218	HP:0000657	Oculomotor apraxia	HP:0040281	ORPHA:475
219854	TMEM218	HP:0030674	Antenatal onset	8/8	OMIM:619562
219854	TMEM218	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:475
219854	TMEM218	HP:0004383	Hypoplastic left heart	1/8	OMIM:619562
219854	TMEM218	HP:0009183	Joint contracture of the 5th finger	2/4	OMIM:619562
219854	TMEM218	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:475
219854	TMEM218	HP:0000864	Abnormality of the hypothalamus-pituitary axis	HP:0040283	ORPHA:475
219854	TMEM218	HP:0040213	Hypopnea	1/4	OMIM:619562
219854	TMEM218	HP:0100259	Postaxial polydactyly	2/8	OMIM:619562
219854	TMEM218	HP:0000276	Long face	HP:0040282	ORPHA:475
219854	TMEM218	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:475
219854	TMEM218	HP:0002876	Episodic tachypnea	HP:0040281	ORPHA:475
219854	TMEM218	HP:0025502	Overweight	2/4	OMIM:619562
219854	TMEM218	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:475
219854	TMEM218	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:475
219854	TMEM218	HP:0000369	Low-set ears	HP:0040283	ORPHA:475
219854	TMEM218	HP:0000486	Strabismus	HP:0040283	ORPHA:475
219854	TMEM218	HP:0000463	Anteverted nares	HP:0040283	ORPHA:475
219854	TMEM218	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:475
219854	TMEM218	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:475
219854	TMEM218	HP:0000508	Ptosis	HP:0040283	ORPHA:475
219854	TMEM218	HP:0000556	Retinal dystrophy	4/4	OMIM:619562
219972	MPEG1	HP:0008619	Bilateral sensorineural hearing impairment	1/1	OMIM:619223
219972	MPEG1	HP:0032261	Nontuberculous mycobacterial pulmonary infection	4/4	OMIM:619223
219972	MPEG1	HP:0002578	Gastroparesis	1/1	OMIM:619223
219972	MPEG1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619223
219972	MPEG1	HP:0031292	Cutaneous abscess	1/1	OMIM:619223
219972	MPEG1	HP:0002110	Bronchiectasis	4/4	OMIM:619223
219972	MPEG1	HP:0003581	Adult onset	4/4	OMIM:619223
219972	MPEG1	HP:0100658	Cellulitis	1/1	OMIM:619223
219972	MPEG1	HP:0006510	Chronic pulmonary obstruction	1/4	OMIM:619223
219972	MPEG1	HP:0011110	Recurrent tonsillitis	1/1	OMIM:619223
220074	LRTOMT	HP:0000007	Autosomal recessive inheritance	-	OMIM:611451
220074	LRTOMT	HP:0003577	Congenital onset	8/8	OMIM:611451
220074	LRTOMT	HP:0008527	Congenital sensorineural hearing impairment	-	OMIM:611451
220074	LRTOMT	HP:0001098	Abnormal fundus morphology	0/4	OMIM:611451
220074	LRTOMT	HP:0001751	Abnormal vestibular function	0/4	OMIM:611451
220136	CFAP53	HP:0012020	Right aortic arch	1/2	OMIM:614779
220136	CFAP53	HP:0000007	Autosomal recessive inheritance	-	OMIM:614779
220136	CFAP53	HP:0000006	Autosomal dominant inheritance	-	OMIM:187500
220136	CFAP53	HP:0003363	Abdominal situs inversus	-	OMIM:614779
220136	CFAP53	HP:0003577	Congenital onset	2/2	OMIM:614779
220136	CFAP53	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:187500
220136	CFAP53	HP:0004383	Hypoplastic left heart	1/2	OMIM:614779
220136	CFAP53	HP:0004467	Preauricular pit	-	OMIM:187500
220136	CFAP53	HP:0011579	Unbalanced atrioventricular canal defect	1/2	OMIM:614779
220136	CFAP53	HP:0011565	Common atrium	1/2	OMIM:614779
220136	CFAP53	HP:0005160	Total anomalous pulmonary venous return	1/2	OMIM:614779
220136	CFAP53	HP:0001696	Situs inversus totalis	1/2	OMIM:614779
220136	CFAP53	HP:0001669	Transposition of the great arteries	1/2	OMIM:614779
220136	CFAP53	HP:0000337	Broad forehead	-	OMIM:187500
220136	CFAP53	HP:0001651	Dextrocardia	1/2	OMIM:614779
220136	CFAP53	HP:0001636	Tetralogy of Fallot	-	OMIM:187500
220136	CFAP53	HP:0001719	Double outlet right ventricle	1/2	OMIM:614779
220136	CFAP53	HP:0000520	Proptosis	-	OMIM:187500
220202	ATOH7	HP:0001104	Macular hypoplasia	HP:0040283	ORPHA:91495
220202	ATOH7	HP:0009926	Epiphora	HP:0040283	ORPHA:91495
220202	ATOH7	HP:0009917	Persistent pupillary membrane	-	OMIM:221900
220202	ATOH7	HP:0009917	Persistent pupillary membrane	HP:0040282	ORPHA:91495
220202	ATOH7	HP:0032287	Ultra-low vision with no light perception	31/31	OMIM:221900
220202	ATOH7	HP:0012043	Pendular nystagmus	-	OMIM:221900
220202	ATOH7	HP:0000007	Autosomal recessive inheritance	-	OMIM:221900
220202	ATOH7	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:91495
220202	ATOH7	HP:0012109	Angle closure glaucoma	HP:0040282	ORPHA:91495
220202	ATOH7	HP:0011885	Hemorrhage of the eye	HP:0040283	ORPHA:91495
220202	ATOH7	HP:0011886	Hyphema	-	OMIM:221900
220202	ATOH7	HP:0003577	Congenital onset	31/31	OMIM:221900
220202	ATOH7	HP:0010766	Ectopic calcification	HP:0040284	ORPHA:91495
220202	ATOH7	HP:0000646	Amblyopia	HP:0040283	ORPHA:91495
220202	ATOH7	HP:0000618	Blindness	HP:0040283	ORPHA:91495
220202	ATOH7	HP:0000612	Iris coloboma	HP:0040283	OMIM:221900
220202	ATOH7	HP:0000667	Phthisis bulbi	-	OMIM:221900
220202	ATOH7	HP:0000667	Phthisis bulbi	HP:0040283	ORPHA:91495
220202	ATOH7	HP:0011484	Posterior synechiae of the anterior chamber	-	OMIM:221900
220202	ATOH7	HP:0030744	Hyaloid vascular remnant and retrolental mass	HP:0040282	ORPHA:91495
220202	ATOH7	HP:0030743	Glial remnants anterior to the optic disc	HP:0040282	ORPHA:91495
220202	ATOH7	HP:0008052	Retinal fold	-	OMIM:221900
220202	ATOH7	HP:0008052	Retinal fold	HP:0040283	ORPHA:91495
220202	ATOH7	HP:0007899	Retinal nonattachment	-	OMIM:221900
220202	ATOH7	HP:0007957	Corneal opacity	HP:0040281	ORPHA:91495
220202	ATOH7	HP:0007957	Corneal opacity	-	OMIM:221900
220202	ATOH7	HP:0007917	Tractional retinal detachment	HP:0040282	ORPHA:91495
220202	ATOH7	HP:0007968	Remnants of the hyaloid vascular system	-	OMIM:221900
220202	ATOH7	HP:0007968	Remnants of the hyaloid vascular system	HP:0040280	ORPHA:91495
220202	ATOH7	HP:0000486	Strabismus	HP:0040283	ORPHA:91495
220202	ATOH7	HP:0000482	Microcornea	HP:0040283	ORPHA:91495
220202	ATOH7	HP:0000482	Microcornea	-	OMIM:221900
220202	ATOH7	HP:0000518	Cataract	-	OMIM:221900
220202	ATOH7	HP:0000518	Cataract	HP:0040281	ORPHA:91495
220202	ATOH7	HP:0000519	Developmental cataract	HP:0040282	ORPHA:91495
220202	ATOH7	HP:0000501	Glaucoma	-	OMIM:221900
220202	ATOH7	HP:0000594	Shallow anterior chamber	-	OMIM:221900
220202	ATOH7	HP:0000594	Shallow anterior chamber	HP:0040283	ORPHA:91495
220202	ATOH7	HP:0000557	Buphthalmos	-	OMIM:221900
220202	ATOH7	HP:0000557	Buphthalmos	HP:0040283	ORPHA:91495
220202	ATOH7	HP:0000554	Uveitis	HP:0040283	OMIM:221900
220202	ATOH7	HP:0000555	Leukocoria	31/31	OMIM:221900
220202	ATOH7	HP:0000555	Leukocoria	HP:0040281	ORPHA:91495
220202	ATOH7	HP:0000568	Microphthalmia	-	OMIM:221900
220202	ATOH7	HP:0000568	Microphthalmia	HP:0040281	ORPHA:91495
220202	ATOH7	HP:0000565	Esotropia	31/31	OMIM:221900
220296	HEPACAM	HP:0001177	Preaxial hand polydactyly	HP:0040284	ORPHA:210548
220296	HEPACAM	HP:0032203	Lymphoid nodular hyperplasia	HP:0040284	ORPHA:210548
220296	HEPACAM	HP:0001276	Hypertonia	-	OMIM:613925
220296	HEPACAM	HP:0001272	Cerebellar atrophy	-	OMIM:613925
220296	HEPACAM	HP:0001270	Motor delay	4/10	OMIM:613925
220296	HEPACAM	HP:0001270	Motor delay	11/18	OMIM:613926
220296	HEPACAM	HP:0001270	Motor delay	HP:0040282	ORPHA:210548
220296	HEPACAM	HP:0001270	Motor delay	-	OMIM:604004
220296	HEPACAM	HP:0001268	Mental deterioration	9/10	OMIM:613925
220296	HEPACAM	HP:0001268	Mental deterioration	HP:0040282	ORPHA:2478
220296	HEPACAM	HP:0001256	Intellectual disability, mild	-	OMIM:604004
220296	HEPACAM	HP:0001250	Seizure	8/10	OMIM:613925
220296	HEPACAM	HP:0001250	Seizure	1/18	OMIM:613926
220296	HEPACAM	HP:0001250	Seizure	HP:0040284	ORPHA:210548
220296	HEPACAM	HP:0001250	Seizure	HP:0040282	ORPHA:2478
220296	HEPACAM	HP:0001250	Seizure	1/1	OMIM:604004
220296	HEPACAM	HP:0001252	Hypotonia	7/18	OMIM:613926
220296	HEPACAM	HP:0001252	Hypotonia	HP:0040283	ORPHA:210548
220296	HEPACAM	HP:0001251	Ataxia	7/10	OMIM:613925
220296	HEPACAM	HP:0001251	Ataxia	HP:0040282	ORPHA:2478
220296	HEPACAM	HP:0001251	Ataxia	-	OMIM:604004
220296	HEPACAM	HP:0001249	Intellectual disability	5/10	OMIM:613925
220296	HEPACAM	HP:0001249	Intellectual disability	5/18	OMIM:613926
220296	HEPACAM	HP:0001249	Intellectual disability	HP:0040282	ORPHA:210548
220296	HEPACAM	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2478
220296	HEPACAM	HP:0001260	Dysarthria	7/10	OMIM:613925
220296	HEPACAM	HP:0001257	Spasticity	HP:0040282	ORPHA:2478
220296	HEPACAM	HP:0001257	Spasticity	-	OMIM:604004
220296	HEPACAM	HP:0007341	Diffuse swelling of cerebral white matter	HP:0040282	ORPHA:2478
220296	HEPACAM	HP:0007341	Diffuse swelling of cerebral white matter	-	OMIM:604004
220296	HEPACAM	HP:0007341	Diffuse swelling of cerebral white matter	-	OMIM:613925
220296	HEPACAM	HP:0007341	Diffuse swelling of cerebral white matter	-	OMIM:613926
220296	HEPACAM	HP:0001397	Hepatic steatosis	HP:0040284	ORPHA:210548
220296	HEPACAM	HP:0001355	Megalencephaly	1/1	OMIM:604004
220296	HEPACAM	HP:0001355	Megalencephaly	-	OMIM:613925
220296	HEPACAM	HP:0001355	Megalencephaly	18/18	OMIM:613926
220296	HEPACAM	HP:0001332	Dystonia	HP:0040283	ORPHA:2478
220296	HEPACAM	HP:0001344	Absent speech	1/18	OMIM:613926
220296	HEPACAM	HP:0000007	Autosomal recessive inheritance	-	OMIM:613925
220296	HEPACAM	HP:0000007	Autosomal recessive inheritance	-	OMIM:604004
220296	HEPACAM	HP:0000006	Autosomal dominant inheritance	-	OMIM:613926
220296	HEPACAM	HP:0002015	Dysphagia	8/20	OMIM:613925
220296	HEPACAM	HP:0002007	Frontal bossing	HP:0040284	ORPHA:210548
220296	HEPACAM	HP:0011800	Midface retrusion	HP:0040284	ORPHA:210548
220296	HEPACAM	HP:0002061	Lower limb spasticity	7/10	OMIM:613925
220296	HEPACAM	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040283	ORPHA:2478
220296	HEPACAM	HP:0002059	Cerebral atrophy	-	OMIM:613925
220296	HEPACAM	HP:0002119	Ventriculomegaly	-	OMIM:613925
220296	HEPACAM	HP:0002133	Status epilepticus	HP:0040283	ORPHA:2478
220296	HEPACAM	HP:0003593	Infantile onset	3/10	OMIM:613925
220296	HEPACAM	HP:0003593	Infantile onset	17/18	OMIM:613926
220296	HEPACAM	HP:0003593	Infantile onset	1/1	OMIM:604004
220296	HEPACAM	HP:0003577	Congenital onset	3/10	OMIM:613925
220296	HEPACAM	HP:0003577	Congenital onset	1/18	OMIM:613926
220296	HEPACAM	HP:0007018	Attention deficit hyperactivity disorder	HP:0040284	ORPHA:210548
220296	HEPACAM	HP:0001054	Numerous nevi	HP:0040283	ORPHA:210548
220296	HEPACAM	HP:0001012	Multiple lipomas	HP:0040283	ORPHA:210548
220296	HEPACAM	HP:0002344	Progressive neurologic deterioration	-	OMIM:613925
220296	HEPACAM	HP:0003677	Slowly progressive	-	OMIM:613925
220296	HEPACAM	HP:0002317	Unsteady gait	HP:0040282	ORPHA:2478
220296	HEPACAM	HP:0002333	Motor deterioration	HP:0040282	ORPHA:2478
220296	HEPACAM	HP:0007204	Diffuse white matter abnormalities	-	OMIM:613925
220296	HEPACAM	HP:0007204	Diffuse white matter abnormalities	-	OMIM:613926
220296	HEPACAM	HP:6000461	Cerebral subcortical cyst	HP:0040282	ORPHA:2478
220296	HEPACAM	HP:0200008	Intestinal polyposis	HP:0040283	ORPHA:210548
220296	HEPACAM	HP:0002312	Clumsiness	6/18	OMIM:613926
220296	HEPACAM	HP:0002312	Clumsiness	HP:0040283	ORPHA:2478
220296	HEPACAM	HP:0002305	Athetosis	HP:0040283	ORPHA:2478
220296	HEPACAM	HP:0006986	Upper limb spasticity	4/10	OMIM:613925
220296	HEPACAM	HP:0006943	Diffuse spongiform leukoencephalopathy	-	OMIM:604004
220296	HEPACAM	HP:0000750	Delayed speech and language development	4/20	OMIM:613925
220296	HEPACAM	HP:0000750	Delayed speech and language development	10/18	OMIM:613926
220296	HEPACAM	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:210548
220296	HEPACAM	HP:0000717	Autism	HP:0040283	ORPHA:2478
220296	HEPACAM	HP:0000729	Autistic behavior	HP:0040281	ORPHA:210548
220296	HEPACAM	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2478
220296	HEPACAM	HP:0011463	Childhood onset	4/10	OMIM:613925
220296	HEPACAM	HP:0012762	Cerebral white matter atrophy	HP:0040283	ORPHA:2478
220296	HEPACAM	HP:0003196	Short nose	HP:0040284	ORPHA:210548
220296	HEPACAM	HP:0000957	Cafe-au-lait spot	HP:0040283	ORPHA:210548
220296	HEPACAM	HP:0000256	Macrocephaly	HP:0040281	ORPHA:210548
220296	HEPACAM	HP:0000256	Macrocephaly	10/10	OMIM:613925
220296	HEPACAM	HP:0000256	Macrocephaly	18/18	OMIM:613926
220296	HEPACAM	HP:0000256	Macrocephaly	1/1	OMIM:604004
220296	HEPACAM	HP:0002890	Thyroid carcinoma	HP:0040284	ORPHA:210548
220296	HEPACAM	HP:0031447	Penile freckling	HP:0040283	ORPHA:210548
220296	HEPACAM	HP:0000316	Hypertelorism	HP:0040284	ORPHA:210548
220296	HEPACAM	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:210548
220296	HEPACAM	HP:0005490	Postnatal macrocephaly	HP:0040282	ORPHA:2478
220296	HEPACAM	HP:0006781	Hurthle cell thyroid adenoma	HP:0040284	ORPHA:210548
220296	HEPACAM	HP:0001829	Foot polydactyly	HP:0040284	ORPHA:210548
221037	JMJD1C	HP:0001166	Arachnodactyly	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0002435	Meningocele	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0007302	Bipolar affective disorder	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0002414	Spina bifida	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001281	Tetany	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0001250	Seizure	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001252	Hypotonia	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0001249	Intellectual disability	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001263	Global developmental delay	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0002566	Intestinal malrotation	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000089	Renal hypoplasia	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001369	Arthritis	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000047	Hypospadias	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0002691	Platybasia	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001328	Specific learning disability	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0002650	Scoliosis	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0002619	Varicose veins	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001300	Parkinsonism	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0002607	Bowel incontinence	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0000160	Narrow mouth	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000175	Cleft palate	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0000113	Polycystic kidney dysplasia	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0002721	Immunodeficiency	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0002023	Anal atresia	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0002019	Constipation	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0003326	Myalgia	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0002099	Asthma	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0002139	Arrhinencephaly	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0011840	Abnormality of T cell physiology	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0100765	Abnormality of the tonsils	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0100735	Hypertensive crisis	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0100750	Atelectasis	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0100753	Schizophrenia	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0001051	Seborrheic dermatitis	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0002381	Aphasia	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0001061	Acne	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000648	Optic atrophy	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000627	Posterior embryotoxon	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0000600	Abnormality of the pharynx	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0000682	Abnormal dental enamel morphology	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0011324	Multiple suture craniosynostosis	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000670	Carious teeth	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0004322	Short stature	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0030680	Abnormal cardiovascular system morphology	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0000765	Abnormal thorax morphology	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000739	Anxiety	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0000716	Depression	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000717	Autism	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000708	Atypical behavior	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0011496	Corneal neovascularization	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0000778	Hypoplasia of the thymus	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0000929	Abnormal skull morphology	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0000836	Hyperthyroidism	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000829	Hypoparathyroidism	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0011662	Tricuspid atresia	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000979	Purpura	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000286	Epicanthus	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0000262	Turricephaly	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000276	Long face	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0000272	Malar flattening	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000252	Microcephaly	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001508	Failure to thrive	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001513	Obesity	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0006510	Chronic pulmonary obstruction	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000385	Small earlobe	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0000396	Overfolded helix	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001611	Hypernasal speech	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0002901	Hypocalcemia	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0000365	Hearing impairment	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0000369	Low-set ears	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0000343	Long philtrum	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000347	Micrognathia	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0012303	Abnormal aortic arch morphology	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0000316	Hypertelorism	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001646	Abnormal aortic valve morphology	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001660	Truncus arteriosus	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0000322	Short philtrum	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0002960	Autoimmunity	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001629	Ventricular septal defect	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0001641	Abnormal pulmonary valve morphology	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0001636	Tetralogy of Fallot	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0001631	Atrial septal defect	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0000486	Strabismus	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000492	Abnormal eyelid morphology	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0000470	Short neck	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0000453	Choanal atresia	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000414	Bulbous nose	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0001744	Splenomegaly	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001762	Talipes equinovarus	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0000426	Prominent nasal bridge	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0000518	Cataract	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000506	Telecanthus	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0000508	Ptosis	HP:0040282	ORPHA:567
221037	JMJD1C	HP:0000501	Glaucoma	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:567
221037	JMJD1C	HP:0000568	Microphthalmia	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001872	Abnormality of thrombocytes	HP:0040283	ORPHA:567
221037	JMJD1C	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:567
221078	NSUN6	HP:0001270	Motor delay	2/3	OMIM:620779
221078	NSUN6	HP:0001250	Seizure	1/3	OMIM:620779
221078	NSUN6	HP:0001249	Intellectual disability	3/3	OMIM:620779
221078	NSUN6	HP:0001263	Global developmental delay	2/2	OMIM:620779
221078	NSUN6	HP:0000007	Autosomal recessive inheritance	-	OMIM:620779
221078	NSUN6	HP:0001320	Cerebellar vermis hypoplasia	1/1	OMIM:620779
221078	NSUN6	HP:0003593	Infantile onset	1/2	OMIM:620779
221078	NSUN6	HP:0003577	Congenital onset	1/2	OMIM:620779
221078	NSUN6	HP:0007018	Attention deficit hyperactivity disorder	1/2	OMIM:620779
221078	NSUN6	HP:0002360	Sleep abnormality	1/2	OMIM:620779
221078	NSUN6	HP:0000750	Delayed speech and language development	3/3	OMIM:620779
221078	NSUN6	HP:0000718	Aggressive behavior	1/2	OMIM:620779
221078	NSUN6	HP:0000717	Autism	1/2	OMIM:620779
221078	NSUN6	HP:0000252	Microcephaly	1/3	OMIM:620779
221078	NSUN6	HP:0001510	Growth delay	2/3	OMIM:620779
221078	NSUN6	HP:0000369	Low-set ears	1/3	OMIM:620779
221264	AK9	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:98913
221264	AK9	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:98913
221264	AK9	HP:0410011	Abnormality of masticatory muscle	HP:0040282	ORPHA:98913
221264	AK9	HP:0001324	Muscle weakness	HP:0040282	ORPHA:98913
221264	AK9	HP:0002650	Scoliosis	HP:0040283	ORPHA:98913
221264	AK9	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:98913
221264	AK9	HP:0031108	Triceps weakness	HP:0040283	ORPHA:98913
221264	AK9	HP:0001446	Abnormality of the musculature of the upper limbs	HP:0040282	ORPHA:98913
221264	AK9	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:98913
221264	AK9	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:98913
221264	AK9	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98913
221264	AK9	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:98913
221264	AK9	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98913
221264	AK9	HP:0003443	Decreased size of nerve terminals	HP:0040282	ORPHA:98913
221264	AK9	HP:0003402	Decreased miniature endplate potentials	HP:0040282	ORPHA:98913
221264	AK9	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040282	ORPHA:98913
221264	AK9	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:98913
221264	AK9	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:98913
221264	AK9	HP:0010628	Facial palsy	HP:0040282	ORPHA:98913
221264	AK9	HP:0002329	Drowsiness	HP:0040283	ORPHA:98913
221264	AK9	HP:0009077	Weakness of long finger extensor muscles	HP:0040283	ORPHA:98913
221264	AK9	HP:0000651	Diplopia	HP:0040283	ORPHA:98913
221264	AK9	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040282	ORPHA:98913
221264	AK9	HP:0005659	Thoracic kyphoscoliosis	HP:0040283	ORPHA:98913
221264	AK9	HP:0012764	Orthopnea	HP:0040283	ORPHA:98913
221264	AK9	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:98913
221264	AK9	HP:0000961	Cyanosis	HP:0040283	ORPHA:98913
221264	AK9	HP:0002878	Respiratory failure	HP:0040283	ORPHA:98913
221264	AK9	HP:0000218	High palate	HP:0040282	ORPHA:98913
221264	AK9	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:98913
221264	AK9	HP:0031374	Ankle weakness	HP:0040283	ORPHA:98913
221264	AK9	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040283	ORPHA:98913
221264	AK9	HP:0030199	Fatigable weakness of neck muscles	HP:0040282	ORPHA:98913
221264	AK9	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:98913
221264	AK9	HP:0000508	Ptosis	HP:0040282	ORPHA:98913
221264	AK9	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:98913
221264	AK9	HP:0012515	Hip flexor weakness	HP:0040283	ORPHA:98913
221421	RSPH9	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
221421	RSPH9	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
221421	RSPH9	HP:0001217	Clubbing	HP:0040283	ORPHA:244
221421	RSPH9	HP:0000007	Autosomal recessive inheritance	-	OMIM:612650
221421	RSPH9	HP:0002643	Neonatal respiratory distress	4/12	OMIM:612650
221421	RSPH9	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
221421	RSPH9	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
221421	RSPH9	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
221421	RSPH9	HP:0031245	Productive cough	HP:0040282	ORPHA:244
221421	RSPH9	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
221421	RSPH9	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
221421	RSPH9	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
221421	RSPH9	HP:0002110	Bronchiectasis	19/22	OMIM:612650
221421	RSPH9	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
221421	RSPH9	HP:0008222	Female infertility	HP:0040283	ORPHA:244
221421	RSPH9	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
221421	RSPH9	HP:0002257	Chronic rhinitis	20/22	OMIM:612650
221421	RSPH9	HP:0003546	Exercise intolerance	-	OMIM:612650
221421	RSPH9	HP:0002205	Recurrent respiratory infections	-	OMIM:612650
221421	RSPH9	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
221421	RSPH9	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
221421	RSPH9	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
221421	RSPH9	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
221421	RSPH9	HP:0004322	Short stature	-	OMIM:612650
221421	RSPH9	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
221421	RSPH9	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
221421	RSPH9	HP:0011463	Childhood onset	12/12	OMIM:612650
221421	RSPH9	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
221421	RSPH9	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
221421	RSPH9	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
221421	RSPH9	HP:0030828	Wheezing	HP:0040283	ORPHA:244
221421	RSPH9	HP:0003251	Male infertility	HP:0040282	ORPHA:244
221421	RSPH9	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
221421	RSPH9	HP:0033036	Decreased nasal nitric oxide	4/5	OMIM:612650
221421	RSPH9	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
221421	RSPH9	HP:0012265	Ciliary dyskinesia	-	OMIM:612650
221421	RSPH9	HP:0012260	Abnormal central microtubular pair morphology of respiratory motile cilia	-	OMIM:612650
221421	RSPH9	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
221421	RSPH9	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
221421	RSPH9	HP:0012207	Reduced sperm motility	1/1	OMIM:612650
221421	RSPH9	HP:0012208	Immotile sperm	-	OMIM:612650
221421	RSPH9	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
221421	RSPH9	HP:0006510	Chronic pulmonary obstruction	3/12	OMIM:612650
221421	RSPH9	HP:0000389	Chronic otitis media	8/12	OMIM:612650
221421	RSPH9	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
221421	RSPH9	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
221421	RSPH9	HP:0001696	Situs inversus totalis	0/12	OMIM:612650
221421	RSPH9	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
221421	RSPH9	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
221421	RSPH9	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
221421	RSPH9	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
221421	RSPH9	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
221421	RSPH9	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
221421	RSPH9	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
221421	RSPH9	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
221421	RSPH9	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
221421	RSPH9	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
221421	RSPH9	HP:0011109	Chronic sinusitis	20/22	OMIM:612650
221421	RSPH9	HP:0001746	Asplenia	HP:0040284	ORPHA:244
221421	RSPH9	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
221421	RSPH9	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
221421	RSPH9	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
221421	RSPH9	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
221421	RSPH9	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
221481	ARMC12	HP:0000007	Autosomal recessive inheritance	-	OMIM:620744
221481	ARMC12	HP:0034011	Reduced progressive sperm motility	3/3	OMIM:620744
221481	ARMC12	HP:0011462	Young adult onset	3/3	OMIM:620744
221481	ARMC12	HP:0000798	Oligozoospermia	0/3	OMIM:620744
221481	ARMC12	HP:0003251	Male infertility	3/3	OMIM:620744
221481	ARMC12	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	0/3	OMIM:620744
221481	ARMC12	HP:0030345	Abnormal circulating luteinizing hormone concentration	0/3	OMIM:620744
221496	LEMD2	HP:0001118	Juvenile cataract	19/19	OMIM:212500
221496	LEMD2	HP:0003758	Reduced subcutaneous adipose tissue	1/2	OMIM:619322
221496	LEMD2	HP:0001324	Muscle weakness	1/2	OMIM:619322
221496	LEMD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:212500
221496	LEMD2	HP:0000006	Autosomal dominant inheritance	-	OMIM:619322
221496	LEMD2	HP:0002645	Wormian bones	1/2	OMIM:619322
221496	LEMD2	HP:0000160	Narrow mouth	1/2	OMIM:619322
221496	LEMD2	HP:0002003	Large forehead	1/2	OMIM:619322
221496	LEMD2	HP:0011800	Midface retrusion	1/2	OMIM:619322
221496	LEMD2	HP:0002080	Intention tremor	2/2	OMIM:619322
221496	LEMD2	HP:0010444	Pulmonic regurgitation	1/2	OMIM:619322
221496	LEMD2	HP:0011712	Complete right bundle branch block	1/2	OMIM:619322
221496	LEMD2	HP:0003429	CNS hypomyelination	1/2	OMIM:619322
221496	LEMD2	HP:0001015	Prominent superficial veins	2/2	OMIM:619322
221496	LEMD2	HP:0031846	Femur fracture	1/2	OMIM:619322
221496	LEMD2	HP:0000680	Delayed eruption of primary teeth	2/2	OMIM:619322
221496	LEMD2	HP:0000668	Hypodontia	2/2	OMIM:619322
221496	LEMD2	HP:0004322	Short stature	1/2	OMIM:619322
221496	LEMD2	HP:0004396	Poor appetite	1/2	OMIM:619322
221496	LEMD2	HP:0004349	Reduced bone mineral density	1/2	OMIM:619322
221496	LEMD2	HP:0000706	Eruption failure	2/2	OMIM:619322
221496	LEMD2	HP:0000855	Insulin resistance	1/2	OMIM:619322
221496	LEMD2	HP:0000894	Short clavicles	1/2	OMIM:619322
221496	LEMD2	HP:0030890	Hyperintensity of cerebral white matter on MRI	1/2	OMIM:619322
221496	LEMD2	HP:0011675	Arrhythmia	14/19	OMIM:212500
221496	LEMD2	HP:0005144	Ventricular septal hypertrophy	1/2	OMIM:619322
221496	LEMD2	HP:0000252	Microcephaly	2/2	OMIM:619322
221496	LEMD2	HP:0001511	Intrauterine growth retardation	1/2	OMIM:619322
221496	LEMD2	HP:0001510	Growth delay	2/2	OMIM:619322
221496	LEMD2	HP:0000347	Micrognathia	1/2	OMIM:619322
221496	LEMD2	HP:0000319	Smooth philtrum	1/2	OMIM:619322
221496	LEMD2	HP:0001645	Sudden cardiac death	5/19	OMIM:212500
221496	LEMD2	HP:0000325	Triangular face	1/2	OMIM:619322
221496	LEMD2	HP:0001788	Premature rupture of membranes	1/2	OMIM:619322
221496	LEMD2	HP:0000444	Convex nasal ridge	1/2	OMIM:619322
221496	LEMD2	HP:0000520	Proptosis	2/2	OMIM:619322
221496	LEMD2	HP:0000586	Shallow orbits	2/2	OMIM:619322
221692	PHACTR1	HP:0002421	Poor head control	2/2	OMIM:618298
221692	PHACTR1	HP:0001285	Spastic tetraparesis	1/1	OMIM:618298
221692	PHACTR1	HP:0001250	Seizure	1/1	OMIM:618298
221692	PHACTR1	HP:0001252	Hypotonia	1/2	OMIM:618298
221692	PHACTR1	HP:0001249	Intellectual disability	2/2	OMIM:618298
221692	PHACTR1	HP:0002521	Hypsarrhythmia	HP:0040281	ORPHA:697160
221692	PHACTR1	HP:0002521	Hypsarrhythmia	2/2	OMIM:618298
221692	PHACTR1	HP:0001371	Flexion contracture	1/1	OMIM:618298
221692	PHACTR1	HP:0000028	Cryptorchidism	1/2	OMIM:618298
221692	PHACTR1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618298
221692	PHACTR1	HP:0001336	Myoclonus	HP:0040281	ORPHA:697160
221692	PHACTR1	HP:0002650	Scoliosis	1/1	OMIM:618298
221692	PHACTR1	HP:0000160	Narrow mouth	1/2	OMIM:618298
221692	PHACTR1	HP:0002120	Cerebral cortical atrophy	1/2	OMIM:618298
221692	PHACTR1	HP:0002119	Ventriculomegaly	1/2	OMIM:618298
221692	PHACTR1	HP:0002188	Delayed CNS myelination	1/2	OMIM:618298
221692	PHACTR1	HP:0200134	Epileptic encephalopathy	-	OMIM:618298
221692	PHACTR1	HP:0002376	Developmental regression	HP:0040281	ORPHA:697160
221692	PHACTR1	HP:0011344	Severe global developmental delay	1/1	OMIM:618298
221692	PHACTR1	HP:0000729	Autistic behavior	1/2	OMIM:618298
221692	PHACTR1	HP:0000707	Abnormality of the nervous system	HP:0040282	ORPHA:697160
221692	PHACTR1	HP:0000252	Microcephaly	1/1	OMIM:618298
221692	PHACTR1	HP:0001561	Polyhydramnios	1/2	OMIM:618298
221692	PHACTR1	HP:0011097	Epileptic spasm	2/2	OMIM:618298
221692	PHACTR1	HP:0000369	Low-set ears	1/2	OMIM:618298
221692	PHACTR1	HP:0032792	Tonic seizure	2/2	OMIM:618298
221692	PHACTR1	HP:0000316	Hypertelorism	1/2	OMIM:618298
221692	PHACTR1	HP:0012469	Infantile spasms	HP:0040281	ORPHA:697160
221692	PHACTR1	HP:0011121	Abnormal skin morphology	HP:0040282	ORPHA:697160
221711	SYCP2L	HP:0000007	Autosomal recessive inheritance	-	OMIM:620840
221711	SYCP2L	HP:0031103	Decreased circulating antimullerian hormone circulation	2/2	OMIM:620840
221711	SYCP2L	HP:0008232	Elevated circulating follicle stimulating hormone level	2/2	OMIM:620840
221711	SYCP2L	HP:0008222	Female infertility	2/2	OMIM:620840
221711	SYCP2L	HP:0008214	Decreased serum estradiol	1/2	OMIM:620840
221711	SYCP2L	HP:0011969	Elevated circulating luteinizing hormone level	1/2	OMIM:620840
221711	SYCP2L	HP:0011462	Young adult onset	2/2	OMIM:620840
221711	SYCP2L	HP:0000876	Oligomenorrhea	1/2	OMIM:620840
221711	SYCP2L	HP:0000869	Secondary amenorrhea	1/2	OMIM:620840
221711	SYCP2L	HP:0033085	Reduced antral follicle count	1/2	OMIM:620840
221895	JAZF1	HP:0032235	Anti-La/SS-B antibody positivity	HP:0040283	ORPHA:536
221895	JAZF1	HP:0033556	Anti-nucleoporin 62 antibody positivity	HP:0040283	ORPHA:536
221895	JAZF1	HP:0100825	Cheilitis	HP:0040283	ORPHA:536
221895	JAZF1	HP:0001250	Seizure	HP:0040283	ORPHA:536
221895	JAZF1	HP:0007417	Discoid lupus rash	HP:0040283	ORPHA:536
221895	JAZF1	HP:0000093	Proteinuria	HP:0040281	ORPHA:536
221895	JAZF1	HP:0001369	Arthritis	HP:0040282	ORPHA:536
221895	JAZF1	HP:0033834	Malaise	HP:0040281	ORPHA:536
221895	JAZF1	HP:0012085	Pyuria	HP:0040282	ORPHA:536
221895	JAZF1	HP:0033726	Lupus nephritis	HP:0040282	ORPHA:536
221895	JAZF1	HP:0025300	Malar rash	HP:0040282	ORPHA:536
221895	JAZF1	HP:0000155	Oral ulcer	HP:0040283	ORPHA:536
221895	JAZF1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:536
221895	JAZF1	HP:0002072	Chorea	HP:0040284	ORPHA:536
221895	JAZF1	HP:0002039	Anorexia	HP:0040281	ORPHA:536
221895	JAZF1	HP:0003453	Antineutrophil antibody positivity	HP:0040282	ORPHA:536
221895	JAZF1	HP:0003493	Antinuclear antibody positivity	HP:0040281	ORPHA:536
221895	JAZF1	HP:5000038	Anti-titin antibody positivity	HP:0040282	ORPHA:536
221895	JAZF1	HP:0100755	Abnormality of salivation	HP:0040283	ORPHA:536
221895	JAZF1	HP:0100669	Abnormal pigmentation of the oral mucosa	HP:0040283	ORPHA:536
221895	JAZF1	HP:0020151	Anti-dsDNA antibody positivity	HP:0040283	ORPHA:536
221895	JAZF1	HP:0034076	Anti-ribosome Po antibody positivity	HP:0040282	ORPHA:536
221895	JAZF1	HP:0034077	Anti-complement component C1q antibody positivity	HP:0040282	ORPHA:536
221895	JAZF1	HP:0034096	Anti-phosphatidic acid antibody positivity	HP:0040283	ORPHA:536
221895	JAZF1	HP:0034093	Anti-Ro52/TRIM21 antibody positivity	HP:0040283	ORPHA:536
221895	JAZF1	HP:0001945	Fever	HP:0040281	ORPHA:536
221895	JAZF1	HP:0000716	Depression	HP:0040283	ORPHA:536
221895	JAZF1	HP:0000790	Hematuria	HP:0040282	ORPHA:536
221895	JAZF1	HP:0005764	Polyarticular arthritis	HP:0040282	ORPHA:536
221895	JAZF1	HP:0000822	Hypertension	HP:0040282	ORPHA:536
221895	JAZF1	HP:0030880	Raynaud phenomenon	HP:0040282	ORPHA:536
221895	JAZF1	HP:0045042	Decreased circulating complement C4 concentration	HP:0040282	ORPHA:536
221895	JAZF1	HP:0045073	Serositis	HP:0040283	ORPHA:536
221895	JAZF1	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:536
221895	JAZF1	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	HP:0040283	ORPHA:536
221895	JAZF1	HP:0033040	Anti-Sm antibody positivity	HP:0040283	ORPHA:536
221895	JAZF1	HP:0001596	Alopecia	HP:0040282	ORPHA:536
221895	JAZF1	HP:0012378	Fatigue	HP:0040281	ORPHA:536
221895	JAZF1	HP:0000488	Retinopathy	HP:0040284	ORPHA:536
221895	JAZF1	HP:0005421	Decreased circulating complement C3 concentration	HP:0040282	ORPHA:536
221895	JAZF1	HP:0001824	Weight loss	HP:0040281	ORPHA:536
221895	JAZF1	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:536
221895	JAZF1	HP:0001878	Hemolytic anemia	HP:0040283	ORPHA:536
221895	JAZF1	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:536
221927	BRAT1	HP:0007286	Horizontal jerk nystagmus	1/1	OMIM:618056
221927	BRAT1	HP:0010851	EEG with burst suppression	1/2	OMIM:614498
221927	BRAT1	HP:0003739	Myoclonic spasms	3/3	OMIM:614498
221927	BRAT1	HP:0001276	Hypertonia	-	OMIM:618056
221927	BRAT1	HP:0001276	Hypertonia	1/2	OMIM:614498
221927	BRAT1	HP:0001272	Cerebellar atrophy	1/1	OMIM:618056
221927	BRAT1	HP:0001250	Seizure	-	OMIM:618056
221927	BRAT1	HP:0001249	Intellectual disability	-	OMIM:618056
221927	BRAT1	HP:0001263	Global developmental delay	1/1	OMIM:618056
221927	BRAT1	HP:0001263	Global developmental delay	2/2	OMIM:614498
221927	BRAT1	HP:0007359	Focal-onset seizure	4/4	OMIM:614498
221927	BRAT1	HP:0002529	Neuronal loss in central nervous system	-	OMIM:614498
221927	BRAT1	HP:0002509	Limb hypertonia	1/1	OMIM:618056
221927	BRAT1	HP:0002509	Limb hypertonia	1/2	OMIM:614498
221927	BRAT1	HP:0000023	Inguinal hernia	-	OMIM:614498
221927	BRAT1	HP:0001347	Hyperreflexia	1/1	OMIM:618056
221927	BRAT1	HP:0001347	Hyperreflexia	-	OMIM:614498
221927	BRAT1	HP:0031165	Multifocal seizures	-	OMIM:614498
221927	BRAT1	HP:0033725	Thin corpus callosum	1/2	OMIM:614498
221927	BRAT1	HP:0001344	Absent speech	-	OMIM:618056
221927	BRAT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618056
221927	BRAT1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614498
221927	BRAT1	HP:0001337	Tremor	-	OMIM:618056
221927	BRAT1	HP:0001310	Dysmetria	-	OMIM:618056
221927	BRAT1	HP:0001317	Abnormal cerebellum morphology	-	OMIM:618056
221927	BRAT1	HP:0008936	Axial hypotonia	1/1	OMIM:618056
221927	BRAT1	HP:0008936	Axial hypotonia	1/2	OMIM:614498
221927	BRAT1	HP:0002066	Gait ataxia	-	OMIM:618056
221927	BRAT1	HP:0002063	Rigidity	3/3	OMIM:614498
221927	BRAT1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:618056
221927	BRAT1	HP:0002045	Hypothermia	4/4	OMIM:614498
221927	BRAT1	HP:0003487	Babinski sign	-	OMIM:614498
221927	BRAT1	HP:0002123	Generalized myoclonic seizure	1/2	OMIM:614498
221927	BRAT1	HP:0002104	Apnea	-	OMIM:618056
221927	BRAT1	HP:0002104	Apnea	5/6	OMIM:614498
221927	BRAT1	HP:0002188	Delayed CNS myelination	1/2	OMIM:614498
221927	BRAT1	HP:0002169	Clonus	-	OMIM:614498
221927	BRAT1	HP:0002171	Gliosis	-	OMIM:614498
221927	BRAT1	HP:0002267	Exaggerated startle response	1/1	OMIM:618056
221927	BRAT1	HP:0003593	Infantile onset	1/1	OMIM:618056
221927	BRAT1	HP:0003593	Infantile onset	1/2	OMIM:614498
221927	BRAT1	HP:0100704	Cerebral visual impairment	1/2	OMIM:614498
221927	BRAT1	HP:0011968	Feeding difficulties	-	OMIM:618056
221927	BRAT1	HP:0011968	Feeding difficulties	1/2	OMIM:614498
221927	BRAT1	HP:0002384	Focal impaired awareness seizure	1/1	OMIM:618056
221927	BRAT1	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1/2	OMIM:614498
221927	BRAT1	HP:0003676	Progressive	-	OMIM:614498
221927	BRAT1	HP:0010804	Tented upper lip vermilion	-	OMIM:618056
221927	BRAT1	HP:0003623	Neonatal onset	1/2	OMIM:614498
221927	BRAT1	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:618056
221927	BRAT1	HP:0000648	Optic atrophy	HP:0040283	OMIM:614498
221927	BRAT1	HP:0031936	Delayed ability to walk	-	OMIM:618056
221927	BRAT1	HP:0000750	Delayed speech and language development	-	OMIM:618056
221927	BRAT1	HP:0000713	Agitation	-	OMIM:618056
221927	BRAT1	HP:0034392	Joint contracture	2/2	OMIM:614498
221927	BRAT1	HP:0000286	Epicanthus	-	OMIM:618056
221927	BRAT1	HP:0000283	Broad face	-	OMIM:618056
221927	BRAT1	HP:0000253	Progressive microcephaly	-	OMIM:614498
221927	BRAT1	HP:0000252	Microcephaly	-	OMIM:614498
221927	BRAT1	HP:0000218	High palate	-	OMIM:618056
221927	BRAT1	HP:0000233	Thin vermilion border	-	OMIM:618056
221927	BRAT1	HP:0032663	Focal motor status epilepticus	1/2	OMIM:614498
221927	BRAT1	HP:0001522	Death in infancy	5/6	OMIM:614498
221927	BRAT1	HP:0000343	Long philtrum	-	OMIM:618056
221927	BRAT1	HP:0012332	Abnormal autonomic nervous system physiology	-	OMIM:614498
221927	BRAT1	HP:0000347	Micrognathia	HP:0040283	OMIM:614498
221927	BRAT1	HP:0030147	Truncal titubation	-	OMIM:618056
221927	BRAT1	HP:0001662	Bradycardia	4/4	OMIM:614498
221927	BRAT1	HP:0005484	Secondary microcephaly	1/1	OMIM:618056
221927	BRAT1	HP:0000505	Visual impairment	HP:0040284	OMIM:618056
222546	RFX6	HP:0002594	Pancreatic hypoplasia	2/10	OMIM:615710
222546	RFX6	HP:0002566	Intestinal malrotation	5/10	OMIM:615710
222546	RFX6	HP:0001396	Cholestasis	7/10	OMIM:615710
222546	RFX6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615710
222546	RFX6	HP:0002024	Malabsorption	-	OMIM:615710
222546	RFX6	HP:0002014	Diarrhea	-	OMIM:615710
222546	RFX6	HP:0005912	Biliary atresia	-	OMIM:615710
222546	RFX6	HP:0002245	Meckel diverticulum	1/10	OMIM:615710
222546	RFX6	HP:0003577	Congenital onset	9/10	OMIM:615710
222546	RFX6	HP:0002247	Duodenal atresia	9/10	OMIM:615710
222546	RFX6	HP:0011985	Acholic stools	-	OMIM:615710
222546	RFX6	HP:0003074	Hyperglycemia	-	OMIM:615710
222546	RFX6	HP:0011467	Absent gallbladder	8/10	OMIM:615710
222546	RFX6	HP:0000819	Diabetes mellitus	10/10	OMIM:615710
222546	RFX6	HP:0001545	Anteriorly placed anus	1/10	OMIM:615710
222546	RFX6	HP:0001541	Ascites	1/10	OMIM:615710
222546	RFX6	HP:0001511	Intrauterine growth retardation	-	OMIM:615710
222546	RFX6	HP:0005235	Jejunal atresia	4/10	OMIM:615710
222546	RFX6	HP:0002904	Hyperbilirubinemia	-	OMIM:615710
222546	RFX6	HP:0001734	Annular pancreas	4/10	OMIM:615710
222662	LHFPL5	HP:0008619	Bilateral sensorineural hearing impairment	-	OMIM:610265
222662	LHFPL5	HP:0000007	Autosomal recessive inheritance	-	OMIM:610265
222662	LHFPL5	HP:0003577	Congenital onset	13/13	OMIM:610265
222662	LHFPL5	HP:0001098	Abnormal fundus morphology	0/13	OMIM:610265
222662	LHFPL5	HP:0000407	Sensorineural hearing impairment	13/13	OMIM:610265
222662	LHFPL5	HP:0001751	Abnormal vestibular function	0/13	OMIM:610265
222663	SCUBE3	HP:0001156	Brachydactyly	12/15	OMIM:619184
222663	SCUBE3	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
222663	SCUBE3	HP:0001293	Cranial nerve compression	-	OMIM:131300
222663	SCUBE3	HP:0001252	Hypotonia	2/14	OMIM:619184
222663	SCUBE3	HP:0001252	Hypotonia	2/7	OMIM:615777
222663	SCUBE3	HP:0001249	Intellectual disability	1/15	OMIM:619184
222663	SCUBE3	HP:0001249	Intellectual disability	5/7	OMIM:615777
222663	SCUBE3	HP:0001263	Global developmental delay	1/15	OMIM:619184
222663	SCUBE3	HP:0001263	Global developmental delay	-	OMIM:615777
222663	SCUBE3	HP:0002515	Waddling gait	54/102	OMIM:131300
222663	SCUBE3	HP:0001387	Joint stiffness	3/8	OMIM:619184
222663	SCUBE3	HP:0001382	Joint hypermobility	2/8	OMIM:619184
222663	SCUBE3	HP:0001382	Joint hypermobility	-	OMIM:615777
222663	SCUBE3	HP:0000047	Hypospadias	1/8	OMIM:619184
222663	SCUBE3	HP:0002694	Sclerosis of skull base	-	OMIM:131300
222663	SCUBE3	HP:0008897	Postnatal growth retardation	15/15	OMIM:619184
222663	SCUBE3	HP:0008897	Postnatal growth retardation	-	OMIM:615777
222663	SCUBE3	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
222663	SCUBE3	HP:0001324	Muscle weakness	40/96	OMIM:131300
222663	SCUBE3	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
222663	SCUBE3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
222663	SCUBE3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619184
222663	SCUBE3	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
222663	SCUBE3	HP:0002650	Scoliosis	6/13	OMIM:619184
222663	SCUBE3	HP:0002650	Scoliosis	12/14	OMIM:131300
222663	SCUBE3	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
222663	SCUBE3	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
222663	SCUBE3	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
222663	SCUBE3	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
222663	SCUBE3	HP:0000175	Cleft palate	1/14	OMIM:619184
222663	SCUBE3	HP:0000175	Cleft palate	2/7	OMIM:615777
222663	SCUBE3	HP:0006297	Enamel hypoplasia	4/15	OMIM:619184
222663	SCUBE3	HP:0002786	Tracheobronchomalacia	1/15	OMIM:619184
222663	SCUBE3	HP:0003388	Easy fatigability	36/76	OMIM:131300
222663	SCUBE3	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
222663	SCUBE3	HP:0200136	Oral-pharyngeal dysphagia	1/15	OMIM:619184
222663	SCUBE3	HP:0002299	Brittle hair	2/15	OMIM:619184
222663	SCUBE3	HP:0003510	Severe short stature	7/7	OMIM:615777
222663	SCUBE3	HP:0002315	Headache	-	OMIM:131300
222663	SCUBE3	HP:0004976	Knee dislocation	6/7	OMIM:615777
222663	SCUBE3	HP:0009803	Short phalanx of finger	-	OMIM:615777
222663	SCUBE3	HP:0009763	Limb pain	63/92	OMIM:131300
222663	SCUBE3	HP:0003621	Juvenile onset	-	OMIM:131300
222663	SCUBE3	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
222663	SCUBE3	HP:0004279	Short palm	12/15	OMIM:619184
222663	SCUBE3	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
222663	SCUBE3	HP:0000639	Nystagmus	2/15	OMIM:619184
222663	SCUBE3	HP:6001056	Out-toeing	-	OMIM:131300
222663	SCUBE3	HP:0000651	Diplopia	-	OMIM:131300
222663	SCUBE3	HP:0001956	Truncal obesity	2/7	OMIM:615777
222663	SCUBE3	HP:0001903	Anemia	HP:0040283	OMIM:131300
222663	SCUBE3	HP:0010049	Short metacarpal	-	OMIM:615777
222663	SCUBE3	HP:0000678	Dental crowding	-	OMIM:615777
222663	SCUBE3	HP:0000678	Dental crowding	12/15	OMIM:619184
222663	SCUBE3	HP:0000677	Oligodontia	2/15	OMIM:619184
222663	SCUBE3	HP:0011318	Bicoronal synostosis	1/15	OMIM:619184
222663	SCUBE3	HP:0000670	Carious teeth	-	OMIM:131300
222663	SCUBE3	HP:0011304	Broad thumb	2/7	OMIM:615777
222663	SCUBE3	HP:0000668	Hypodontia	-	OMIM:615777
222663	SCUBE3	HP:0000668	Hypodontia	2/15	OMIM:619184
222663	SCUBE3	HP:0000664	Synophrys	-	OMIM:615777
222663	SCUBE3	HP:0030674	Antenatal onset	8/11	OMIM:619184
222663	SCUBE3	HP:0004396	Poor appetite	-	OMIM:131300
222663	SCUBE3	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
222663	SCUBE3	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
222663	SCUBE3	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
222663	SCUBE3	HP:0003026	Short long bone	7/7	OMIM:615777
222663	SCUBE3	HP:0003026	Short long bone	6/11	OMIM:619184
222663	SCUBE3	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
222663	SCUBE3	HP:0000767	Pectus excavatum	2/7	OMIM:615777
222663	SCUBE3	HP:0000768	Pectus carinatum	1/7	OMIM:615777
222663	SCUBE3	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
222663	SCUBE3	HP:0000750	Delayed speech and language development	-	OMIM:615777
222663	SCUBE3	HP:0011461	Fetal onset	7/7	OMIM:615777
222663	SCUBE3	HP:0000774	Narrow chest	2/7	OMIM:615777
222663	SCUBE3	HP:0000926	Platyspondyly	1/7	OMIM:615777
222663	SCUBE3	HP:0003189	Long nose	13/15	OMIM:619184
222663	SCUBE3	HP:0003180	Flat acetabular roof	-	OMIM:615777
222663	SCUBE3	HP:0004482	Relative macrocephaly	-	OMIM:615777
222663	SCUBE3	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
222663	SCUBE3	HP:0000878	11 pairs of ribs	4/13	OMIM:619184
222663	SCUBE3	HP:0000823	Delayed puberty	-	OMIM:131300
222663	SCUBE3	HP:0000894	Short clavicles	-	OMIM:615777
222663	SCUBE3	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
222663	SCUBE3	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
222663	SCUBE3	HP:0011675	Arrhythmia	1/14	OMIM:619184
222663	SCUBE3	HP:0000286	Epicanthus	1/7	OMIM:615777
222663	SCUBE3	HP:0000280	Coarse facial features	2/7	OMIM:615777
222663	SCUBE3	HP:0000276	Long face	14/14	OMIM:619184
222663	SCUBE3	HP:0002827	Hip dislocation	3/7	OMIM:615777
222663	SCUBE3	HP:0000252	Microcephaly	9/13	OMIM:619184
222663	SCUBE3	HP:0000252	Microcephaly	-	OMIM:615777
222663	SCUBE3	HP:0002857	Genu valgum	-	OMIM:131300
222663	SCUBE3	HP:0001533	Slender build	-	OMIM:131300
222663	SCUBE3	HP:0000201	Pierre-Robin sequence	2/14	OMIM:619184
222663	SCUBE3	HP:0001511	Intrauterine growth retardation	8/11	OMIM:619184
222663	SCUBE3	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
222663	SCUBE3	HP:0007807	Optic nerve compression	-	OMIM:131300
222663	SCUBE3	HP:0011062	Misalignment of incisors	3/15	OMIM:619184
222663	SCUBE3	HP:0012368	Flat face	7/7	OMIM:615777
222663	SCUBE3	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
222663	SCUBE3	HP:0000365	Hearing impairment	10/67	OMIM:131300
222663	SCUBE3	HP:0000343	Long philtrum	1/7	OMIM:615777
222663	SCUBE3	HP:0011001	Increased bone mineral density	-	OMIM:131300
222663	SCUBE3	HP:0000348	High forehead	15/15	OMIM:619184
222663	SCUBE3	HP:0000311	Round face	2/7	OMIM:615777
222663	SCUBE3	HP:0000331	Short chin	14/14	OMIM:619184
222663	SCUBE3	HP:0000325	Triangular face	14/14	OMIM:619184
222663	SCUBE3	HP:0001655	Patent foramen ovale	1/14	OMIM:619184
222663	SCUBE3	HP:0002970	Genu varum	-	OMIM:615777
222663	SCUBE3	HP:0000307	Pointed chin	11/13	OMIM:619184
222663	SCUBE3	HP:0001631	Atrial septal defect	2/14	OMIM:619184
222663	SCUBE3	HP:0000303	Mandibular prognathia	-	OMIM:131300
222663	SCUBE3	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
222663	SCUBE3	HP:0000483	Astigmatism	1/15	OMIM:619184
222663	SCUBE3	HP:0000486	Strabismus	1/15	OMIM:619184
222663	SCUBE3	HP:0012471	Thick vermilion border	7/15	OMIM:619184
222663	SCUBE3	HP:0000470	Short neck	1/7	OMIM:615777
222663	SCUBE3	HP:0001769	Broad foot	HP:0040283	OMIM:615777
222663	SCUBE3	HP:0001763	Pes planus	1/7	OMIM:615777
222663	SCUBE3	HP:0000426	Prominent nasal bridge	13/15	OMIM:619184
222663	SCUBE3	HP:0001840	Metatarsus adductus	-	OMIM:615777
222663	SCUBE3	HP:0000520	Proptosis	2/4	OMIM:131300
222663	SCUBE3	HP:0000520	Proptosis	7/7	OMIM:615777
222663	SCUBE3	HP:0000592	Blue sclerae	2/7	OMIM:615777
222663	SCUBE3	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
222663	SCUBE3	HP:0012514	Lower limb pain	4/4	OMIM:131300
223117	SEMA3D	HP:0100806	Sepsis	HP:0040283	ORPHA:388
223117	SEMA3D	HP:0002019	Constipation	HP:0040281	ORPHA:388
223117	SEMA3D	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:388
223117	SEMA3D	HP:0002027	Abdominal pain	HP:0040281	ORPHA:388
223117	SEMA3D	HP:0002014	Diarrhea	HP:0040283	ORPHA:388
223117	SEMA3D	HP:6000224	Delayed passage of meconium	HP:0040282	ORPHA:388
223117	SEMA3D	HP:0002251	Aganglionic megacolon	HP:0040281	ORPHA:388
223117	SEMA3D	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:388
223117	SEMA3D	HP:0034754	Bilious emesis	HP:0040282	ORPHA:388
223117	SEMA3D	HP:0004322	Short stature	HP:0040283	ORPHA:388
223117	SEMA3D	HP:0004387	Enterocolitis	HP:0040283	ORPHA:388
223117	SEMA3D	HP:0012719	Functional abnormality of the gastrointestinal tract	HP:0040281	ORPHA:388
223117	SEMA3D	HP:0003270	Abdominal distention	HP:0040282	ORPHA:388
223117	SEMA3D	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:388
223117	SEMA3D	HP:0001531	Failure to thrive in infancy	HP:0040283	ORPHA:388
223117	SEMA3D	HP:0031369	Colon perforation	HP:0040283	ORPHA:388
223117	SEMA3D	HP:0001510	Growth delay	HP:0040283	ORPHA:388
223117	SEMA3D	HP:0005214	Intestinal obstruction	HP:0040281	ORPHA:388
223117	SEMA3D	HP:0001824	Weight loss	HP:0040282	ORPHA:388
246176	GAS2L2	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
246176	GAS2L2	HP:0001217	Clubbing	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618449
246176	GAS2L2	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
246176	GAS2L2	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0031245	Productive cough	HP:0040282	ORPHA:244
246176	GAS2L2	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
246176	GAS2L2	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
246176	GAS2L2	HP:0002110	Bronchiectasis	-	OMIM:618449
246176	GAS2L2	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0008222	Female infertility	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
246176	GAS2L2	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
246176	GAS2L2	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
246176	GAS2L2	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
246176	GAS2L2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0000789	Infertility	-	OMIM:618449
246176	GAS2L2	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
246176	GAS2L2	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
246176	GAS2L2	HP:0030828	Wheezing	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0003251	Male infertility	HP:0040282	ORPHA:244
246176	GAS2L2	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
246176	GAS2L2	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
246176	GAS2L2	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
246176	GAS2L2	HP:0012208	Immotile sperm	-	OMIM:618449
246176	GAS2L2	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
246176	GAS2L2	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
246176	GAS2L2	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
246176	GAS2L2	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
246176	GAS2L2	HP:0031603	Impaired nasal mucociliary clearance	-	OMIM:618449
246176	GAS2L2	HP:0000403	Recurrent otitis media	-	OMIM:618449
246176	GAS2L2	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
246176	GAS2L2	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
246176	GAS2L2	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
246176	GAS2L2	HP:0011108	Recurrent sinusitis	-	OMIM:618449
246176	GAS2L2	HP:0001746	Asplenia	HP:0040284	ORPHA:244
246176	GAS2L2	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
246176	GAS2L2	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
246176	GAS2L2	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
246176	GAS2L2	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
246176	GAS2L2	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
246213	SLC17A8	HP:0000006	Autosomal dominant inheritance	-	OMIM:605583
246213	SLC17A8	HP:0003581	Adult onset	-	OMIM:605583
246213	SLC17A8	HP:0000407	Sensorineural hearing impairment	23/23	OMIM:605583
246213	SLC17A8	HP:0001751	Abnormal vestibular function	0/23	OMIM:605583
246243	RNASEH1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:329336
246243	RNASEH1	HP:0007256	Abnormal pyramidal sign	-	OMIM:616479
246243	RNASEH1	HP:0007220	Demyelinating motor neuropathy	1/4	OMIM:616479
246243	RNASEH1	HP:0003722	Neck flexor weakness	HP:0040283	ORPHA:329336
246243	RNASEH1	HP:0003738	Exercise-induced myalgia	HP:0040282	ORPHA:329336
246243	RNASEH1	HP:0002406	Limb dysmetria	HP:0040283	ORPHA:329336
246243	RNASEH1	HP:0002403	Positive Romberg sign	1/4	OMIM:616479
246243	RNASEH1	HP:0001272	Cerebellar atrophy	2/4	OMIM:616479
246243	RNASEH1	HP:0001288	Gait disturbance	2/8	OMIM:616479
246243	RNASEH1	HP:0001251	Ataxia	-	OMIM:616479
246243	RNASEH1	HP:0001265	Hyporeflexia	1/4	OMIM:616479
246243	RNASEH1	HP:0001260	Dysarthria	1/4	OMIM:616479
246243	RNASEH1	HP:0001260	Dysarthria	HP:0040282	ORPHA:329336
246243	RNASEH1	HP:0007366	Atrophy/Degeneration affecting the brainstem	1/4	OMIM:616479
246243	RNASEH1	HP:0007340	Lower limb muscle weakness	1/4	OMIM:616479
246243	RNASEH1	HP:0002549	Deficit in phonologic short-term memory	HP:0040283	ORPHA:329336
246243	RNASEH1	HP:0002522	Areflexia of lower limbs	HP:0040282	ORPHA:329336
246243	RNASEH1	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:329336
246243	RNASEH1	HP:0002505	Loss of ambulation	1/4	OMIM:616479
246243	RNASEH1	HP:0001348	Brisk reflexes	1/4	OMIM:616479
246243	RNASEH1	HP:0001347	Hyperreflexia	HP:0040283	OMIM:616479
246243	RNASEH1	HP:0001324	Muscle weakness	4/4	OMIM:616479
246243	RNASEH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616479
246243	RNASEH1	HP:0001310	Dysmetria	1/4	OMIM:616479
246243	RNASEH1	HP:0002650	Scoliosis	HP:0040283	ORPHA:329336
246243	RNASEH1	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:329336
246243	RNASEH1	HP:0001488	Bilateral ptosis	1/4	OMIM:616479
246243	RNASEH1	HP:0007663	Reduced visual acuity	1/4	OMIM:616479
246243	RNASEH1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:329336
246243	RNASEH1	HP:0003327	Axial muscle weakness	1/4	OMIM:616479
246243	RNASEH1	HP:0003326	Myalgia	HP:0040282	ORPHA:329336
246243	RNASEH1	HP:0003326	Myalgia	1/4	OMIM:616479
246243	RNASEH1	HP:0002015	Dysphagia	4/4	OMIM:616479
246243	RNASEH1	HP:0002015	Dysphagia	HP:0040282	ORPHA:329336
246243	RNASEH1	HP:0100543	Cognitive impairment	1/4	OMIM:616479
246243	RNASEH1	HP:0002093	Respiratory insufficiency	HP:0040283	OMIM:616479
246243	RNASEH1	HP:0003394	Muscle spasm	1/4	OMIM:616479
246243	RNASEH1	HP:0002076	Migraine	HP:0040283	ORPHA:329336
246243	RNASEH1	HP:0011712	Complete right bundle branch block	1/4	OMIM:616479
246243	RNASEH1	HP:0002141	Gait imbalance	HP:0040283	ORPHA:329336
246243	RNASEH1	HP:0003487	Babinski sign	1/4	OMIM:616479
246243	RNASEH1	HP:0002151	Increased circulating lactate concentration	2/4	OMIM:616479
246243	RNASEH1	HP:0002120	Cerebral cortical atrophy	1/4	OMIM:616479
246243	RNASEH1	HP:0002136	Broad-based gait	1/4	OMIM:616479
246243	RNASEH1	HP:0002169	Clonus	1/4	OMIM:616479
246243	RNASEH1	HP:0002172	Postural instability	1/4	OMIM:616479
246243	RNASEH1	HP:0003596	Middle age onset	2/4	OMIM:616479
246243	RNASEH1	HP:0003551	Difficulty climbing stairs	HP:0040282	ORPHA:329336
246243	RNASEH1	HP:0003546	Exercise intolerance	HP:0040281	ORPHA:329336
246243	RNASEH1	HP:0003546	Exercise intolerance	1/4	OMIM:616479
246243	RNASEH1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:329336
246243	RNASEH1	HP:0002361	Psychomotor deterioration	HP:0040283	ORPHA:329336
246243	RNASEH1	HP:0003690	Limb muscle weakness	HP:0040281	ORPHA:329336
246243	RNASEH1	HP:0003688	Cytochrome C oxidase-negative muscle fibers	3/4	OMIM:616479
246243	RNASEH1	HP:0003676	Progressive	-	OMIM:616479
246243	RNASEH1	HP:0002317	Unsteady gait	4/4	OMIM:616479
246243	RNASEH1	HP:0009830	Peripheral neuropathy	1/4	OMIM:616479
246243	RNASEH1	HP:0007141	Sensorimotor neuropathy	HP:0040283	ORPHA:329336
246243	RNASEH1	HP:0000602	Ophthalmoplegia	1/4	OMIM:616479
246243	RNASEH1	HP:0003133	Abnormality of the spinocerebellar tracts	HP:0040283	ORPHA:329336
246243	RNASEH1	HP:0003236	Elevated circulating creatine kinase concentration	1/4	OMIM:616479
246243	RNASEH1	HP:0003202	Skeletal muscle atrophy	-	OMIM:616479
246243	RNASEH1	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:329336
246243	RNASEH1	HP:0003200	Ragged-red muscle fibers	3/4	OMIM:616479
246243	RNASEH1	HP:0000218	High palate	HP:0040282	ORPHA:329336
246243	RNASEH1	HP:0001618	Dysphonia	2/4	OMIM:616479
246243	RNASEH1	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:329336
246243	RNASEH1	HP:0005150	Abnormal atrioventricular conduction	HP:0040283	ORPHA:329336
246243	RNASEH1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:329336
246243	RNASEH1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:329336
246243	RNASEH1	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:329336
246243	RNASEH1	HP:0025709	Intermediate young adult onset	2/4	OMIM:616479
246243	RNASEH1	HP:0000508	Ptosis	2/4	OMIM:616479
246243	RNASEH1	HP:0000597	Ophthalmoparesis	1/4	OMIM:616479
246243	RNASEH1	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:329336
246243	RNASEH1	HP:0000590	Progressive external ophthalmoplegia	HP:0040280	ORPHA:329336
246243	RNASEH1	HP:0000590	Progressive external ophthalmoplegia	4/4	OMIM:616479
246243	RNASEH1	HP:0000565	Esotropia	HP:0040283	ORPHA:329336
246329	STAC3	HP:0003701	Proximal muscle weakness	1/1	OMIM:255995
246329	STAC3	HP:0001270	Motor delay	2/2	OMIM:255995
246329	STAC3	HP:0001270	Motor delay	HP:0040282	ORPHA:168572
246329	STAC3	HP:0001284	Areflexia	1/1	OMIM:255995
246329	STAC3	HP:0001256	Intellectual disability, mild	HP:0040284	ORPHA:168572
246329	STAC3	HP:0001252	Hypotonia	2/2	OMIM:255995
246329	STAC3	HP:0001252	Hypotonia	HP:0040282	ORPHA:168572
246329	STAC3	HP:0001249	Intellectual disability	HP:0040283	OMIM:255995
246329	STAC3	HP:0001265	Hyporeflexia	-	OMIM:255995
246329	STAC3	HP:0001260	Dysarthria	HP:0040283	ORPHA:168572
246329	STAC3	HP:0002540	Inability to walk	HP:0040284	ORPHA:168572
246329	STAC3	HP:0001371	Flexion contracture	-	OMIM:255995
246329	STAC3	HP:0001382	Joint hypermobility	HP:0040284	ORPHA:168572
246329	STAC3	HP:0000028	Cryptorchidism	-	OMIM:255995
246329	STAC3	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:168572
246329	STAC3	HP:0012084	Abnormality of skeletal muscle fiber size	HP:0040282	ORPHA:168572
246329	STAC3	HP:0001324	Muscle weakness	HP:0040281	ORPHA:168572
246329	STAC3	HP:0001324	Muscle weakness	1/1	OMIM:255995
246329	STAC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:255995
246329	STAC3	HP:0002650	Scoliosis	2/2	OMIM:255995
246329	STAC3	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:168572
246329	STAC3	HP:0000193	Bifid uvula	HP:0040283	ORPHA:168572
246329	STAC3	HP:0001488	Bilateral ptosis	HP:0040282	ORPHA:168572
246329	STAC3	HP:0000175	Cleft palate	HP:0040282	ORPHA:168572
246329	STAC3	HP:0000175	Cleft palate	-	OMIM:255995
246329	STAC3	HP:0002751	Kyphoscoliosis	-	OMIM:255995
246329	STAC3	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:168572
246329	STAC3	HP:0002714	Downturned corners of mouth	2/2	OMIM:255995
246329	STAC3	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:168572
246329	STAC3	HP:0011819	Submucous cleft soft palate	HP:0040283	ORPHA:168572
246329	STAC3	HP:0011800	Midface retrusion	-	OMIM:255995
246329	STAC3	HP:0002093	Respiratory insufficiency	HP:0040282	ORPHA:168572
246329	STAC3	HP:0002091	Restrictive ventilatory defect	-	OMIM:255995
246329	STAC3	HP:0003391	Gowers sign	2/2	OMIM:255995
246329	STAC3	HP:0002047	Malignant hyperthermia	HP:0040282	ORPHA:168572
246329	STAC3	HP:0002047	Malignant hyperthermia	-	OMIM:255995
246329	STAC3	HP:0002058	Myopathic facies	HP:0040281	ORPHA:168572
246329	STAC3	HP:0002058	Myopathic facies	-	OMIM:255995
246329	STAC3	HP:0002119	Ventriculomegaly	HP:0040283	OMIM:255995
246329	STAC3	HP:0003577	Congenital onset	2/2	OMIM:255995
246329	STAC3	HP:0010674	Abnormal curvature of the vertebral column	HP:0040282	ORPHA:168572
246329	STAC3	HP:0011968	Feeding difficulties	2/2	OMIM:255995
246329	STAC3	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:168572
246329	STAC3	HP:0008458	Progressive congenital scoliosis	HP:0040282	ORPHA:168572
246329	STAC3	HP:0004322	Short stature	-	OMIM:255995
246329	STAC3	HP:0004322	Short stature	HP:0040282	ORPHA:168572
246329	STAC3	HP:0012745	Short palpebral fissure	-	OMIM:255995
246329	STAC3	HP:0005775	Multiple skeletal anomalies	-	OMIM:255995
246329	STAC3	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:168572
246329	STAC3	HP:0003202	Skeletal muscle atrophy	-	OMIM:255995
246329	STAC3	HP:0100295	Muscle fiber atrophy	HP:0040283	ORPHA:168572
246329	STAC3	HP:0012240	Increased intramyocellular lipid droplets	1/1	OMIM:255995
246329	STAC3	HP:0002803	Congenital contracture	HP:0040282	ORPHA:168572
246329	STAC3	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:168572
246329	STAC3	HP:0000252	Microcephaly	-	OMIM:255995
246329	STAC3	HP:0000248	Brachycephaly	-	OMIM:255995
246329	STAC3	HP:0000218	High palate	2/2	OMIM:255995
246329	STAC3	HP:0000218	High palate	HP:0040283	ORPHA:168572
246329	STAC3	HP:0012385	Camptodactyly	HP:0040284	ORPHA:168572
246329	STAC3	HP:0000369	Low-set ears	2/2	OMIM:255995
246329	STAC3	HP:0000347	Micrognathia	2/2	OMIM:255995
246329	STAC3	HP:0000347	Micrognathia	HP:0040283	ORPHA:168572
246329	STAC3	HP:0000329	Facial hemangioma	HP:0040284	ORPHA:168572
246329	STAC3	HP:0030319	Weakness of facial musculature	1/1	OMIM:255995
246329	STAC3	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:168572
246329	STAC3	HP:0000405	Conductive hearing impairment	-	OMIM:255995
246329	STAC3	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:168572
246329	STAC3	HP:0000494	Downslanted palpebral fissures	-	OMIM:255995
246329	STAC3	HP:0012416	Hypercapnia	1/1	OMIM:255995
246329	STAC3	HP:0012418	Hypoxemia	1/1	OMIM:255995
246329	STAC3	HP:0001776	Bilateral talipes equinovarus	2/2	OMIM:255995
246329	STAC3	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:168572
246329	STAC3	HP:0000506	Telecanthus	-	OMIM:255995
246329	STAC3	HP:0000508	Ptosis	2/2	OMIM:255995
246329	STAC3	HP:0000581	Blepharophimosis	-	OMIM:255995
246329	STAC3	HP:0012548	Fatty replacement of skeletal muscle	2/2	OMIM:255995
253017	TECRL	HP:0001279	Syncope	2/4	OMIM:614021
253017	TECRL	HP:0001279	Syncope	HP:0040283	ORPHA:3286
253017	TECRL	HP:0000007	Autosomal recessive inheritance	-	OMIM:614021
253017	TECRL	HP:0000006	Autosomal dominant inheritance	-	OMIM:115000
253017	TECRL	HP:0004756	Ventricular tachycardia	3/3	OMIM:614021
253017	TECRL	HP:0004756	Ventricular tachycardia	HP:0040281	ORPHA:3286
253017	TECRL	HP:0004755	Supraventricular tachycardia	HP:0040282	ORPHA:3286
253017	TECRL	HP:0004751	Paroxysmal ventricular tachycardia	1/1	OMIM:614021
253017	TECRL	HP:0002321	Vertigo	HP:0040282	ORPHA:3286
253017	TECRL	HP:0003621	Juvenile onset	1/1	OMIM:614021
253017	TECRL	HP:0034040	Bidirectional ventricular tachycardia	1/1	OMIM:614021
253017	TECRL	HP:0001962	Palpitations	1/1	OMIM:614021
253017	TECRL	HP:0001962	Palpitations	HP:0040282	ORPHA:3286
253017	TECRL	HP:0011463	Childhood onset	1/3	OMIM:614021
253017	TECRL	HP:0011462	Young adult onset	2/3	OMIM:614021
253017	TECRL	HP:0011664	Left ventricular noncompaction cardiomyopathy	2/46	OMIM:115000
253017	TECRL	HP:0005110	Atrial fibrillation	HP:0040282	ORPHA:3286
253017	TECRL	HP:0005184	Prolonged QTc interval	0/1	OMIM:614021
253017	TECRL	HP:0001695	Cardiac arrest	3/3	OMIM:614021
253017	TECRL	HP:0001695	Cardiac arrest	HP:0040282	ORPHA:3286
253017	TECRL	HP:0001699	Sudden death	-	OMIM:614021
253017	TECRL	HP:0001664	Torsade de pointes	1/46	OMIM:115000
253017	TECRL	HP:0001645	Sudden cardiac death	-	OMIM:115000
253017	TECRL	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:3286
253017	TECRL	HP:0001663	Ventricular fibrillation	4/6	OMIM:614021
253017	TECRL	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:3286
253017	TECRL	HP:0001663	Ventricular fibrillation	-	OMIM:115000
253017	TECRL	HP:0001657	Prolonged QT interval	3/3	OMIM:614021
253017	TECRL	HP:0031628	Aborted sudden cardiac death	-	OMIM:115000
253017	TECRL	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	-	OMIM:115000
253017	TECRL	HP:0006682	Premature ventricular contraction	1/1	OMIM:614021
253017	TECRL	HP:0031677	Polymorphic ventricular tachycardia	HP:0040282	ORPHA:3286
253017	TECRL	HP:0031677	Polymorphic ventricular tachycardia	1/1	OMIM:614021
253738	EBF3	HP:0001182	Tapered finger	2/8	OMIM:617330
253738	EBF3	HP:0001182	Tapered finger	HP:0040283	ORPHA:96148
253738	EBF3	HP:0001156	Brachydactyly	HP:0040283	ORPHA:96148
253738	EBF3	HP:0002465	Poor speech	HP:0040282	ORPHA:96148
253738	EBF3	HP:0010862	Delayed fine motor development	1/3	OMIM:617330
253738	EBF3	HP:0008554	Cochlear malformation	HP:0040284	ORPHA:96148
253738	EBF3	HP:0002421	Poor head control	-	OMIM:617330
253738	EBF3	HP:0001290	Generalized hypotonia	8/8	OMIM:617330
253738	EBF3	HP:0001272	Cerebellar atrophy	1/8	OMIM:617330
253738	EBF3	HP:0001270	Motor delay	9/10	OMIM:617330
253738	EBF3	HP:0001250	Seizure	2/9	OMIM:617330
253738	EBF3	HP:0001250	Seizure	HP:0040283	ORPHA:96148
253738	EBF3	HP:0001251	Ataxia	HP:0040284	ORPHA:96148
253738	EBF3	HP:0001251	Ataxia	5/8	OMIM:617330
253738	EBF3	HP:0001249	Intellectual disability	9/10	OMIM:617330
253738	EBF3	HP:0001249	Intellectual disability	HP:0040281	ORPHA:96148
253738	EBF3	HP:0001260	Dysarthria	4/18	OMIM:617330
253738	EBF3	HP:0001263	Global developmental delay	12/13	OMIM:617330
253738	EBF3	HP:0001263	Global developmental delay	HP:0040281	ORPHA:96148
253738	EBF3	HP:0001257	Spasticity	HP:0040283	ORPHA:96148
253738	EBF3	HP:0001212	Prominent fingertip pads	HP:0040284	ORPHA:96148
253738	EBF3	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000076	Vesicoureteral reflux	4/18	OMIM:617330
253738	EBF3	HP:0000054	Micropenis	1/1	OMIM:617330
253738	EBF3	HP:0001385	Hip dysplasia	HP:0040284	ORPHA:96148
253738	EBF3	HP:0001349	Facial diplegia	HP:0040283	ORPHA:96148
253738	EBF3	HP:0001363	Craniosynostosis	HP:0040284	ORPHA:96148
253738	EBF3	HP:0000028	Cryptorchidism	1/4	OMIM:617330
253738	EBF3	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:96148
253738	EBF3	HP:0001328	Specific learning disability	HP:0040281	ORPHA:96148
253738	EBF3	HP:0000009	Functional abnormality of the bladder	HP:0040284	ORPHA:96148
253738	EBF3	HP:0000006	Autosomal dominant inheritance	-	OMIM:617330
253738	EBF3	HP:0001310	Dysmetria	1/3	OMIM:617330
253738	EBF3	HP:0001320	Cerebellar vermis hypoplasia	4/10	OMIM:617330
253738	EBF3	HP:0001321	Cerebellar hypoplasia	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000179	Thick lower lip vermilion	2/10	OMIM:617330
253738	EBF3	HP:0000175	Cleft palate	HP:0040283	ORPHA:96148
253738	EBF3	HP:0008947	Floppy infant	HP:0040282	ORPHA:96148
253738	EBF3	HP:0008947	Floppy infant	5/13	OMIM:617330
253738	EBF3	HP:0008936	Axial hypotonia	3/10	OMIM:617330
253738	EBF3	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:96148
253738	EBF3	HP:0002719	Recurrent infections	HP:0040282	ORPHA:96148
253738	EBF3	HP:0002714	Downturned corners of mouth	2/11	OMIM:617330
253738	EBF3	HP:0002023	Anal atresia	HP:0040284	ORPHA:96148
253738	EBF3	HP:0002020	Gastroesophageal reflux	1/10	OMIM:617330
253738	EBF3	HP:0002002	Deep philtrum	5/9	OMIM:617330
253738	EBF3	HP:0002015	Dysphagia	3/3	OMIM:617330
253738	EBF3	HP:0002007	Frontal bossing	HP:0040284	ORPHA:96148
253738	EBF3	HP:0002066	Gait ataxia	5/7	OMIM:617330
253738	EBF3	HP:0002078	Truncal ataxia	5/8	OMIM:617330
253738	EBF3	HP:0002058	Myopathic facies	1/8	OMIM:617330
253738	EBF3	HP:0002136	Broad-based gait	3/3	OMIM:617330
253738	EBF3	HP:0002169	Clonus	HP:0040283	ORPHA:96148
253738	EBF3	HP:0011822	Broad chin	5/8	OMIM:617330
253738	EBF3	HP:0003593	Infantile onset	-	OMIM:617330
253738	EBF3	HP:0002280	Enlarged cisterna magna	HP:0040282	ORPHA:96148
253738	EBF3	HP:0007021	Pain insensitivity	2/3	OMIM:617330
253738	EBF3	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:96148
253738	EBF3	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:96148
253738	EBF3	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:96148
253738	EBF3	HP:0007068	Inferior cerebellar vermis hypoplasia	HP:0040283	ORPHA:96148
253738	EBF3	HP:0002389	Cavum septum pellucidum	HP:0040283	ORPHA:96148
253738	EBF3	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:96148
253738	EBF3	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:96148
253738	EBF3	HP:0003691	Scapular winging	HP:0040284	ORPHA:96148
253738	EBF3	HP:0002317	Unsteady gait	HP:0040283	ORPHA:96148
253738	EBF3	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:96148
253738	EBF3	HP:0010743	Short metatarsal	HP:0040283	ORPHA:96148
253738	EBF3	HP:0003623	Neonatal onset	5/8	OMIM:617330
253738	EBF3	HP:0004209	Clinodactyly of the 5th finger	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000601	Hypotelorism	HP:0040284	ORPHA:96148
253738	EBF3	HP:0001919	Acute kidney injury	HP:0040284	ORPHA:96148
253738	EBF3	HP:0011376	Abnormal morphology of the vestibule of the inner ear	HP:0040284	ORPHA:96148
253738	EBF3	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:96148
253738	EBF3	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:96148
253738	EBF3	HP:0000664	Synophrys	1/8	OMIM:617330
253738	EBF3	HP:0004322	Short stature	2/8	OMIM:617330
253738	EBF3	HP:0004322	Short stature	HP:0040283	ORPHA:96148
253738	EBF3	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000805	Enuresis	HP:0040282	ORPHA:96148
253738	EBF3	HP:0031936	Delayed ability to walk	-	OMIM:617330
253738	EBF3	HP:0000767	Pectus excavatum	HP:0040284	ORPHA:96148
253738	EBF3	HP:0000739	Anxiety	HP:0040284	ORPHA:96148
253738	EBF3	HP:0000733	Motor stereotypy	2/3	OMIM:617330
253738	EBF3	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:96148
253738	EBF3	HP:0000750	Delayed speech and language development	14/17	OMIM:617330
253738	EBF3	HP:0000718	Aggressive behavior	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000708	Atypical behavior	HP:0040282	ORPHA:96148
253738	EBF3	HP:0005709	2-3 toe cutaneous syndactyly	HP:0040283	ORPHA:96148
253738	EBF3	HP:0003196	Short nose	HP:0040284	ORPHA:96148
253738	EBF3	HP:0003186	Inverted nipples	1/3	OMIM:617330
253738	EBF3	HP:0003298	Spina bifida occulta	HP:0040284	ORPHA:96148
253738	EBF3	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:96148
253738	EBF3	HP:0008081	Pes valgus	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000286	Epicanthus	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000276	Long face	5/8	OMIM:617330
253738	EBF3	HP:0000268	Dolichocephaly	1/8	OMIM:617330
253738	EBF3	HP:0002827	Hip dislocation	HP:0040284	ORPHA:96148
253738	EBF3	HP:0030084	Clinodactyly	HP:0040282	ORPHA:96148
253738	EBF3	HP:0000252	Microcephaly	2/8	OMIM:617330
253738	EBF3	HP:0000252	Microcephaly	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000248	Brachycephaly	HP:0040284	ORPHA:96148
253738	EBF3	HP:0000219	Thin upper lip vermilion	1/10	OMIM:617330
253738	EBF3	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:96148
253738	EBF3	HP:0000218	High palate	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000215	Thick upper lip vermilion	2/10	OMIM:617330
253738	EBF3	HP:0001562	Oligohydramnios	1/3	OMIM:617330
253738	EBF3	HP:0001558	Decreased fetal movement	2/3	OMIM:617330
253738	EBF3	HP:0001508	Failure to thrive	HP:0040282	ORPHA:96148
253738	EBF3	HP:0011098	Speech apraxia	1/3	OMIM:617330
253738	EBF3	HP:0000385	Small earlobe	2/8	OMIM:617330
253738	EBF3	HP:0000396	Overfolded helix	2/3	OMIM:617330
253738	EBF3	HP:0002938	Lumbar hyperlordosis	HP:0040284	ORPHA:96148
253738	EBF3	HP:0000356	Abnormality of the outer ear	HP:0040282	ORPHA:96148
253738	EBF3	HP:0000358	Posteriorly rotated ears	3/8	OMIM:617330
253738	EBF3	HP:0000369	Low-set ears	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000369	Low-set ears	5/16	OMIM:617330
253738	EBF3	HP:0000341	Narrow forehead	HP:0040284	ORPHA:96148
253738	EBF3	HP:0000337	Broad forehead	2/8	OMIM:617330
253738	EBF3	HP:0000337	Broad forehead	HP:0040284	ORPHA:96148
253738	EBF3	HP:0000349	Widow's peak	HP:0040284	ORPHA:96148
253738	EBF3	HP:0000348	High forehead	7/9	OMIM:617330
253738	EBF3	HP:0000347	Micrognathia	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000319	Smooth philtrum	2/10	OMIM:617330
253738	EBF3	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000316	Hypertelorism	3/18	OMIM:617330
253738	EBF3	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000331	Short chin	4/8	OMIM:617330
253738	EBF3	HP:0000325	Triangular face	2/3	OMIM:617330
253738	EBF3	HP:0000325	Triangular face	HP:0040284	ORPHA:96148
253738	EBF3	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:96148
253738	EBF3	HP:0001622	Premature birth	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000300	Oval face	1/3	OMIM:617330
253738	EBF3	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:96148
253738	EBF3	HP:0030319	Weakness of facial musculature	3/3	OMIM:617330
253738	EBF3	HP:0000483	Astigmatism	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000483	Astigmatism	1/3	OMIM:617330
253738	EBF3	HP:0000486	Strabismus	HP:0040282	ORPHA:96148
253738	EBF3	HP:0000486	Strabismus	11/13	OMIM:617330
253738	EBF3	HP:0000494	Downslanted palpebral fissures	1/3	OMIM:617330
253738	EBF3	HP:0000494	Downslanted palpebral fissures	HP:0040284	ORPHA:96148
253738	EBF3	HP:0000490	Deeply set eye	4/8	OMIM:617330
253738	EBF3	HP:0000463	Anteverted nares	1/3	OMIM:617330
253738	EBF3	HP:0000455	Broad nasal tip	1/8	OMIM:617330
253738	EBF3	HP:0001763	Pes planus	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000448	Prominent nose	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000411	Protruding ear	HP:0040284	ORPHA:96148
253738	EBF3	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:96148
253738	EBF3	HP:0000426	Prominent nasal bridge	6/8	OMIM:617330
253738	EBF3	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:96148
253738	EBF3	HP:0005487	Prominent metopic ridge	HP:0040284	ORPHA:96148
253738	EBF3	HP:0001852	Sandal gap	HP:0040283	ORPHA:96148
253738	EBF3	HP:0000520	Proptosis	HP:0040284	ORPHA:96148
253738	EBF3	HP:0001800	Hypoplastic toenails	HP:0040284	ORPHA:96148
253738	EBF3	HP:0000582	Upslanted palpebral fissure	3/18	OMIM:617330
253738	EBF3	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:96148
253738	EBF3	HP:0011228	Horizontal eyebrow	5/8	OMIM:617330
253738	EBF3	HP:0011220	Prominent forehead	2/11	OMIM:617330
253738	EBF3	HP:0000574	Thick eyebrow	2/8	OMIM:617330
253738	EBF3	HP:0000537	Epicanthus inversus	1/3	OMIM:617330
253738	EBF3	HP:0000545	Myopia	HP:0040283	ORPHA:96148
253827	MSRB3	HP:0000007	Autosomal recessive inheritance	-	OMIM:613718
253827	MSRB3	HP:0003577	Congenital onset	-	OMIM:613718
253827	MSRB3	HP:0000365	Hearing impairment	-	OMIM:613718
253827	MSRB3	HP:0000510	Rod-cone dystrophy	0/6	OMIM:613718
253959	RALGAPA1	HP:0009890	High anterior hairline	1/4	OMIM:618797
253959	RALGAPA1	HP:0002421	Poor head control	4/4	OMIM:618797
253959	RALGAPA1	HP:0001270	Motor delay	4/4	OMIM:618797
253959	RALGAPA1	HP:0001252	Hypotonia	4/4	OMIM:618797
253959	RALGAPA1	HP:0001257	Spasticity	2/4	OMIM:618797
253959	RALGAPA1	HP:0000076	Vesicoureteral reflux	2/4	OMIM:618797
253959	RALGAPA1	HP:0001344	Absent speech	4/4	OMIM:618797
253959	RALGAPA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618797
253959	RALGAPA1	HP:0002643	Neonatal respiratory distress	4/4	OMIM:618797
253959	RALGAPA1	HP:0000154	Wide mouth	1/4	OMIM:618797
253959	RALGAPA1	HP:0002779	Tracheomalacia	1/4	OMIM:618797
253959	RALGAPA1	HP:0002079	Hypoplasia of the corpus callosum	4/4	OMIM:618797
253959	RALGAPA1	HP:0002059	Cerebral atrophy	1/4	OMIM:618797
253959	RALGAPA1	HP:0100704	Cerebral visual impairment	2/4	OMIM:618797
253959	RALGAPA1	HP:0002282	Gray matter heterotopia	1/4	OMIM:618797
253959	RALGAPA1	HP:0010808	Protruding tongue	1/4	OMIM:618797
253959	RALGAPA1	HP:0011344	Severe global developmental delay	4/4	OMIM:618797
253959	RALGAPA1	HP:0011471	Gastrostomy tube feeding in infancy	4/4	OMIM:618797
253959	RALGAPA1	HP:0004429	Recurrent viral infections	4/4	OMIM:618797
253959	RALGAPA1	HP:0000958	Dry skin	1/4	OMIM:618797
253959	RALGAPA1	HP:0000294	Low anterior hairline	1/4	OMIM:618797
253959	RALGAPA1	HP:0000248	Brachycephaly	1/4	OMIM:618797
253959	RALGAPA1	HP:0000212	Gingival overgrowth	2/4	OMIM:618797
253959	RALGAPA1	HP:0001601	Laryngomalacia	1/4	OMIM:618797
253959	RALGAPA1	HP:0000369	Low-set ears	1/4	OMIM:618797
253959	RALGAPA1	HP:0001622	Premature birth	1/4	OMIM:618797
253959	RALGAPA1	HP:0005280	Depressed nasal bridge	1/4	OMIM:618797
253959	RALGAPA1	HP:0012469	Infantile spasms	3/4	OMIM:618797
253959	RALGAPA1	HP:0000490	Deeply set eye	1/4	OMIM:618797
253959	RALGAPA1	HP:0000463	Anteverted nares	2/4	OMIM:618797
253959	RALGAPA1	HP:0005469	Flat occiput	1/4	OMIM:618797
253959	RALGAPA1	HP:0000518	Cataract	1/4	OMIM:618797
253959	RALGAPA1	HP:0011228	Horizontal eyebrow	1/4	OMIM:618797
253959	RALGAPA1	HP:0000574	Thick eyebrow	2/4	OMIM:618797
254065	BRWD3	HP:0001256	Intellectual disability, mild	10/10	OMIM:300659
254065	BRWD3	HP:0001252	Hypotonia	2/10	OMIM:300659
254065	BRWD3	HP:0001249	Intellectual disability	2/2	OMIM:300659
254065	BRWD3	HP:0000028	Cryptorchidism	2/10	OMIM:300659
254065	BRWD3	HP:0001419	X-linked recessive inheritance	-	OMIM:300659
254065	BRWD3	HP:0002007	Frontal bossing	2/10	OMIM:300659
254065	BRWD3	HP:0003593	Infantile onset	1/3	OMIM:300659
254065	BRWD3	HP:0003577	Congenital onset	2/3	OMIM:300659
254065	BRWD3	HP:0000750	Delayed speech and language development	1/10	OMIM:300659
254065	BRWD3	HP:0000256	Macrocephaly	4/12	OMIM:300659
254065	BRWD3	HP:0000276	Long face	3/10	OMIM:300659
254065	BRWD3	HP:0000378	Cupped ear	2/10	OMIM:300659
254065	BRWD3	HP:0000400	Macrotia	8/10	OMIM:300659
254065	BRWD3	HP:0001763	Pes planus	1/10	OMIM:300659
254065	BRWD3	HP:0011220	Prominent forehead	1/10	OMIM:300659
254394	MCM9	HP:0002576	Intussusception	HP:0040283	OMIM:174900
254394	MCM9	HP:0002573	Hematochezia	HP:0040283	OMIM:174900
254394	MCM9	HP:0001217	Clubbing	HP:0040283	OMIM:174900
254394	MCM9	HP:0000007	Autosomal recessive inheritance	-	OMIM:616185
254394	MCM9	HP:0000007	Autosomal recessive inheritance	-	OMIM:608456
254394	MCM9	HP:0000006	Autosomal dominant inheritance	-	OMIM:174900
254394	MCM9	HP:0002750	Delayed skeletal maturation	3/3	OMIM:616185
254394	MCM9	HP:0002035	Rectal prolapse	HP:0040283	OMIM:174900
254394	MCM9	HP:0002027	Abdominal pain	HP:0040282	OMIM:174900
254394	MCM9	HP:0002014	Diarrhea	HP:0040282	OMIM:174900
254394	MCM9	HP:0008232	Elevated circulating follicle stimulating hormone level	3/3	OMIM:616185
254394	MCM9	HP:0008214	Decreased serum estradiol	3/3	OMIM:616185
254394	MCM9	HP:0003621	Juvenile onset	3/3	OMIM:616185
254394	MCM9	HP:0001903	Anemia	HP:0040282	OMIM:174900
254394	MCM9	HP:0004325	Decreased body weight	3/3	OMIM:616185
254394	MCM9	HP:0004322	Short stature	4/4	OMIM:616185
254394	MCM9	HP:0003003	Colon cancer	20%	OMIM:174900
254394	MCM9	HP:0003003	Colon cancer	5/12	OMIM:608456
254394	MCM9	HP:0003073	Hypoalbuminemia	-	OMIM:174900
254394	MCM9	HP:0004394	Multiple gastric polyps	HP:0040282	OMIM:174900
254394	MCM9	HP:0000786	Primary amenorrhea	5/5	OMIM:616185
254394	MCM9	HP:0001508	Failure to thrive	HP:0040282	OMIM:174900
254394	MCM9	HP:0005227	Adenomatous colonic polyposis	-	OMIM:608456
254394	MCM9	HP:0002900	Hypokalemia	-	OMIM:174900
254394	MCM9	HP:0006753	Neoplasm of the stomach	HP:0040283	OMIM:174900
254394	MCM9	HP:0006771	Duodenal adenocarcinoma	HP:0040283	OMIM:174900
254428	SLC41A1	HP:0003774	Stage 5 chronic kidney disease	2/2	OMIM:619468
254428	SLC41A1	HP:0000083	Renal insufficiency	1/2	OMIM:619468
254428	SLC41A1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619468
254428	SLC41A1	HP:0032417	Periglomerular fibrosis	2/2	OMIM:619468
254428	SLC41A1	HP:0032622	Tubular luminal dilatation	2/2	OMIM:619468
254428	SLC41A1	HP:0000103	Polyuria	2/2	OMIM:619468
254428	SLC41A1	HP:0002113	Pulmonary infiltrates	2/2	OMIM:619468
254428	SLC41A1	HP:0002110	Bronchiectasis	1/2	OMIM:619468
254428	SLC41A1	HP:0003593	Infantile onset	2/2	OMIM:619468
254428	SLC41A1	HP:0002205	Recurrent respiratory infections	2/2	OMIM:619468
254428	SLC41A1	HP:0001959	Polydipsia	2/2	OMIM:619468
254428	SLC41A1	HP:0001954	Recurrent fever	2/2	OMIM:619468
254428	SLC41A1	HP:0012735	Cough	2/2	OMIM:619468
254428	SLC41A1	HP:0003259	Elevated circulating creatinine concentration	2/2	OMIM:619468
254528	MEIOB	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
254528	MEIOB	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
254528	MEIOB	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
254528	MEIOB	HP:0000007	Autosomal recessive inheritance	-	OMIM:620686
254528	MEIOB	HP:0000007	Autosomal recessive inheritance	-	OMIM:617706
254528	MEIOB	HP:0031103	Decreased circulating antimullerian hormone circulation	4/4	OMIM:620686
254528	MEIOB	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
254528	MEIOB	HP:0030974	Cryptozoospermia	1/4	OMIM:617706
254528	MEIOB	HP:0008232	Elevated circulating follicle stimulating hormone level	4/4	OMIM:620686
254528	MEIOB	HP:0008222	Female infertility	5/5	OMIM:620686
254528	MEIOB	HP:0011961	Non-obstructive azoospermia	3/4	OMIM:617706
254528	MEIOB	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
254528	MEIOB	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
254528	MEIOB	HP:0011462	Young adult onset	5/5	OMIM:620686
254528	MEIOB	HP:0011462	Young adult onset	4/4	OMIM:617706
254528	MEIOB	HP:0000876	Oligomenorrhea	3/4	OMIM:620686
254528	MEIOB	HP:0000869	Secondary amenorrhea	1/2	OMIM:620686
254528	MEIOB	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
254528	MEIOB	HP:0033085	Reduced antral follicle count	4/4	OMIM:620686
254528	MEIOB	HP:0003251	Male infertility	4/4	OMIM:617706
255101	CFAP65	HP:0000007	Autosomal recessive inheritance	-	OMIM:618664
255101	CFAP65	HP:0032558	Absent sperm flagella	-	OMIM:618664
255101	CFAP65	HP:0032559	Short sperm flagella	-	OMIM:618664
255101	CFAP65	HP:0032560	Coiled sperm flagella	-	OMIM:618664
255101	CFAP65	HP:0000798	Oligozoospermia	3/3	OMIM:618664
255101	CFAP65	HP:0003251	Male infertility	3/3	OMIM:618664
255101	CFAP65	HP:0012208	Immotile sperm	3/3	OMIM:618664
255738	PCSK9	HP:0001138	Optic neuropathy	HP:0040284	ORPHA:391665
255738	PCSK9	HP:0001114	Xanthelasma	-	OMIM:603776
255738	PCSK9	HP:0010874	Tendon xanthomatosis	HP:0040283	ORPHA:391665
255738	PCSK9	HP:0010874	Tendon xanthomatosis	-	OMIM:603776
255738	PCSK9	HP:0001397	Hepatic steatosis	HP:0040282	ORPHA:391665
255738	PCSK9	HP:0000006	Autosomal dominant inheritance	HP:0040280	OMIM:603776
255738	PCSK9	HP:0002094	Dyspnea	HP:0040282	ORPHA:391665
255738	PCSK9	HP:0007201	Cerebral artery atherosclerosis	HP:0040282	ORPHA:391665
255738	PCSK9	HP:0001084	Corneal arcus	-	OMIM:603776
255738	PCSK9	HP:0004963	Calcification of the aorta	HP:0040283	ORPHA:391665
255738	PCSK9	HP:0004950	Peripheral arterial stenosis	HP:0040282	ORPHA:391665
255738	PCSK9	HP:0031886	Abnormal LDL cholesterol concentration	-	OMIM:603776
255738	PCSK9	HP:0001920	Renal artery stenosis	HP:0040282	ORPHA:391665
255738	PCSK9	HP:0012638	Abnormal nervous system physiology	HP:0040284	ORPHA:391665
255738	PCSK9	HP:0003077	Hyperlipidemia	HP:0040280	ORPHA:391665
255738	PCSK9	HP:0004381	Supravalvular aortic stenosis	HP:0040283	ORPHA:391665
255738	PCSK9	HP:0000799	Renal steatosis	HP:0040283	ORPHA:391665
255738	PCSK9	HP:0003124	Hypercholesterolemia	HP:0040280	ORPHA:391665
255738	PCSK9	HP:0003124	Hypercholesterolemia	HP:0040280	OMIM:603776
255738	PCSK9	HP:0004416	Precocious atherosclerosis	HP:0040281	ORPHA:391665
255738	PCSK9	HP:0003141	Increased LDL cholesterol concentration	HP:0040280	ORPHA:391665
255738	PCSK9	HP:0000822	Hypertension	HP:0040282	ORPHA:391665
255738	PCSK9	HP:0030882	Coronary artery aneurysm	HP:0040284	ORPHA:391665
255738	PCSK9	HP:0100261	Abnormal tendon morphology	HP:0040282	ORPHA:391665
255738	PCSK9	HP:0000991	Xanthomatosis	HP:0040283	ORPHA:391665
255738	PCSK9	HP:0002829	Arthralgia	HP:0040283	ORPHA:391665
255738	PCSK9	HP:0012397	Aortic atherosclerotic lesion	HP:0040282	ORPHA:391665
255738	PCSK9	HP:0012373	Abnormal eye physiology	HP:0040284	ORPHA:391665
255738	PCSK9	HP:0005177	Premature arteriosclerosis	HP:0040281	ORPHA:391665
255738	PCSK9	HP:0005181	Premature coronary artery atherosclerosis	HP:0040282	ORPHA:391665
255738	PCSK9	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:391665
255738	PCSK9	HP:0001681	Angina pectoris	HP:0040282	ORPHA:391665
255738	PCSK9	HP:0001677	Coronary artery atherosclerosis	HP:0040282	ORPHA:391665
255738	PCSK9	HP:0001645	Sudden cardiac death	HP:0040282	ORPHA:391665
255738	PCSK9	HP:0030148	Heart murmur	HP:0040282	ORPHA:391665
255738	PCSK9	HP:0001658	Myocardial infarction	HP:0040282	ORPHA:391665
255738	PCSK9	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:391665
255738	PCSK9	HP:0006693	Myocardial steatosis	HP:0040282	ORPHA:391665
255738	PCSK9	HP:3000062	Abnormal internal carotid artery morphology	HP:0040282	ORPHA:391665
255758	DYNLT2B	HP:0001156	Brachydactyly	4/7	OMIM:617405
255758	DYNLT2B	HP:0001162	Postaxial hand polydactyly	3/7	OMIM:617405
255758	DYNLT2B	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
255758	DYNLT2B	HP:0001293	Cranial nerve compression	-	OMIM:131300
255758	DYNLT2B	HP:0001252	Hypotonia	2/7	OMIM:615777
255758	DYNLT2B	HP:0001249	Intellectual disability	5/7	OMIM:615777
255758	DYNLT2B	HP:0001263	Global developmental delay	-	OMIM:615777
255758	DYNLT2B	HP:0002515	Waddling gait	54/102	OMIM:131300
255758	DYNLT2B	HP:0001382	Joint hypermobility	-	OMIM:615777
255758	DYNLT2B	HP:0002694	Sclerosis of skull base	-	OMIM:131300
255758	DYNLT2B	HP:0008897	Postnatal growth retardation	-	OMIM:615777
255758	DYNLT2B	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
255758	DYNLT2B	HP:0001324	Muscle weakness	40/96	OMIM:131300
255758	DYNLT2B	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
255758	DYNLT2B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
255758	DYNLT2B	HP:0000007	Autosomal recessive inheritance	-	OMIM:617405
255758	DYNLT2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
255758	DYNLT2B	HP:0002650	Scoliosis	12/14	OMIM:131300
255758	DYNLT2B	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
255758	DYNLT2B	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
255758	DYNLT2B	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
255758	DYNLT2B	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
255758	DYNLT2B	HP:0000175	Cleft palate	2/7	OMIM:615777
255758	DYNLT2B	HP:0003388	Easy fatigability	36/76	OMIM:131300
255758	DYNLT2B	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
255758	DYNLT2B	HP:0010454	Acetabular spurs	5/7	OMIM:617405
255758	DYNLT2B	HP:0003577	Congenital onset	-	OMIM:617405
255758	DYNLT2B	HP:0003510	Severe short stature	7/7	OMIM:615777
255758	DYNLT2B	HP:0002315	Headache	-	OMIM:131300
255758	DYNLT2B	HP:0004976	Knee dislocation	6/7	OMIM:615777
255758	DYNLT2B	HP:0009803	Short phalanx of finger	-	OMIM:615777
255758	DYNLT2B	HP:0009763	Limb pain	63/92	OMIM:131300
255758	DYNLT2B	HP:0003621	Juvenile onset	-	OMIM:131300
255758	DYNLT2B	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
255758	DYNLT2B	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
255758	DYNLT2B	HP:6001056	Out-toeing	-	OMIM:131300
255758	DYNLT2B	HP:0000651	Diplopia	-	OMIM:131300
255758	DYNLT2B	HP:0001956	Truncal obesity	2/7	OMIM:615777
255758	DYNLT2B	HP:0001903	Anemia	HP:0040283	OMIM:131300
255758	DYNLT2B	HP:0010049	Short metacarpal	-	OMIM:615777
255758	DYNLT2B	HP:0000678	Dental crowding	-	OMIM:615777
255758	DYNLT2B	HP:0000670	Carious teeth	-	OMIM:131300
255758	DYNLT2B	HP:0011304	Broad thumb	2/7	OMIM:615777
255758	DYNLT2B	HP:0000668	Hypodontia	-	OMIM:615777
255758	DYNLT2B	HP:0000664	Synophrys	-	OMIM:615777
255758	DYNLT2B	HP:0004322	Short stature	4/7	OMIM:617405
255758	DYNLT2B	HP:0004396	Poor appetite	-	OMIM:131300
255758	DYNLT2B	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
255758	DYNLT2B	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
255758	DYNLT2B	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
255758	DYNLT2B	HP:0003026	Short long bone	7/7	OMIM:615777
255758	DYNLT2B	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
255758	DYNLT2B	HP:0000767	Pectus excavatum	2/7	OMIM:615777
255758	DYNLT2B	HP:0000768	Pectus carinatum	1/7	OMIM:615777
255758	DYNLT2B	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
255758	DYNLT2B	HP:0000750	Delayed speech and language development	-	OMIM:615777
255758	DYNLT2B	HP:0011461	Fetal onset	7/7	OMIM:615777
255758	DYNLT2B	HP:0000774	Narrow chest	2/7	OMIM:615777
255758	DYNLT2B	HP:0000774	Narrow chest	4/7	OMIM:617405
255758	DYNLT2B	HP:0000773	Short ribs	5/7	OMIM:617405
255758	DYNLT2B	HP:0000926	Platyspondyly	1/7	OMIM:615777
255758	DYNLT2B	HP:0003180	Flat acetabular roof	-	OMIM:615777
255758	DYNLT2B	HP:0004482	Relative macrocephaly	-	OMIM:615777
255758	DYNLT2B	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
255758	DYNLT2B	HP:0000888	Horizontal ribs	5/7	OMIM:617405
255758	DYNLT2B	HP:0000823	Delayed puberty	-	OMIM:131300
255758	DYNLT2B	HP:0000895	Lateral clavicle hook	-	OMIM:617405
255758	DYNLT2B	HP:0000894	Short clavicles	-	OMIM:615777
255758	DYNLT2B	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
255758	DYNLT2B	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
255758	DYNLT2B	HP:0034374	Trident acetabulum	5/7	OMIM:617405
255758	DYNLT2B	HP:0000286	Epicanthus	1/7	OMIM:615777
255758	DYNLT2B	HP:0000280	Coarse facial features	2/7	OMIM:615777
255758	DYNLT2B	HP:0002827	Hip dislocation	3/7	OMIM:615777
255758	DYNLT2B	HP:0000252	Microcephaly	-	OMIM:615777
255758	DYNLT2B	HP:0002857	Genu valgum	-	OMIM:131300
255758	DYNLT2B	HP:0001522	Death in infancy	1/7	OMIM:617405
255758	DYNLT2B	HP:0001533	Slender build	-	OMIM:131300
255758	DYNLT2B	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
255758	DYNLT2B	HP:0007807	Optic nerve compression	-	OMIM:131300
255758	DYNLT2B	HP:0012368	Flat face	7/7	OMIM:615777
255758	DYNLT2B	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
255758	DYNLT2B	HP:0000365	Hearing impairment	10/67	OMIM:131300
255758	DYNLT2B	HP:0000343	Long philtrum	1/7	OMIM:615777
255758	DYNLT2B	HP:0011001	Increased bone mineral density	-	OMIM:131300
255758	DYNLT2B	HP:0000311	Round face	2/7	OMIM:615777
255758	DYNLT2B	HP:0002970	Genu varum	-	OMIM:615777
255758	DYNLT2B	HP:0000303	Mandibular prognathia	-	OMIM:131300
255758	DYNLT2B	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
255758	DYNLT2B	HP:0000470	Short neck	1/7	OMIM:615777
255758	DYNLT2B	HP:0001769	Broad foot	HP:0040283	OMIM:615777
255758	DYNLT2B	HP:0001763	Pes planus	1/7	OMIM:615777
255758	DYNLT2B	HP:0001840	Metatarsus adductus	-	OMIM:615777
255758	DYNLT2B	HP:0000520	Proptosis	2/4	OMIM:131300
255758	DYNLT2B	HP:0000520	Proptosis	7/7	OMIM:615777
255758	DYNLT2B	HP:0001830	Postaxial foot polydactyly	4/7	OMIM:617405
255758	DYNLT2B	HP:0000592	Blue sclerae	2/7	OMIM:615777
255758	DYNLT2B	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
255758	DYNLT2B	HP:0012514	Lower limb pain	4/4	OMIM:131300
255928	SYT14	HP:0001272	Cerebellar atrophy	HP:0040281	ORPHA:284271
255928	SYT14	HP:0001272	Cerebellar atrophy	2/2	OMIM:614229
255928	SYT14	HP:0001288	Gait disturbance	HP:0040281	ORPHA:284271
255928	SYT14	HP:0001288	Gait disturbance	2/2	OMIM:614229
255928	SYT14	HP:0001251	Ataxia	HP:0040281	ORPHA:284271
255928	SYT14	HP:0001251	Ataxia	2/2	OMIM:614229
255928	SYT14	HP:0001249	Intellectual disability	HP:0040281	ORPHA:284271
255928	SYT14	HP:0001260	Dysarthria	HP:0040281	ORPHA:284271
255928	SYT14	HP:0001260	Dysarthria	2/2	OMIM:614229
255928	SYT14	HP:0001263	Global developmental delay	HP:0040281	ORPHA:284271
255928	SYT14	HP:0001263	Global developmental delay	2/2	OMIM:614229
255928	SYT14	HP:0000007	Autosomal recessive inheritance	-	OMIM:614229
255928	SYT14	HP:0002015	Dysphagia	HP:0040282	ORPHA:284271
255928	SYT14	HP:0002015	Dysphagia	HP:0040283	OMIM:614229
255928	SYT14	HP:0002078	Truncal ataxia	2/2	OMIM:614229
255928	SYT14	HP:0002078	Truncal ataxia	HP:0040281	ORPHA:284271
255928	SYT14	HP:0002070	Limb ataxia	2/2	OMIM:614229
255928	SYT14	HP:0002070	Limb ataxia	HP:0040281	ORPHA:284271
255928	SYT14	HP:0003677	Slowly progressive	-	OMIM:614229
255928	SYT14	HP:0002317	Unsteady gait	HP:0040282	ORPHA:284271
255928	SYT14	HP:0006855	Cerebellar vermis atrophy	1/2	OMIM:614229
255928	SYT14	HP:0000639	Nystagmus	HP:0040282	ORPHA:284271
255928	SYT14	HP:0000617	Abnormality of ocular smooth pursuit	HP:0040281	ORPHA:284271
255928	SYT14	HP:0011463	Childhood onset	2/2	OMIM:614229
255928	SYT14	HP:0007772	Impaired smooth pursuit	1/2	OMIM:614229
255928	SYT14	HP:0007979	Gaze-evoked horizontal nystagmus	HP:0040282	ORPHA:284271
255928	SYT14	HP:0007979	Gaze-evoked horizontal nystagmus	1/2	OMIM:614229
256297	PTF1A	HP:0003758	Reduced subcutaneous adipose tissue	1/1	OMIM:609069
256297	PTF1A	HP:0100800	Aplasia/Hypoplasia of the pancreas	HP:0040282	ORPHA:65288
256297	PTF1A	HP:0100801	Pancreatic aplasia	4/9	OMIM:615935
256297	PTF1A	HP:0100801	Pancreatic aplasia	1/1	OMIM:609069
256297	PTF1A	HP:0001250	Seizure	-	OMIM:609069
256297	PTF1A	HP:0001265	Hyporeflexia	HP:0040284	OMIM:609069
256297	PTF1A	HP:0002594	Pancreatic hypoplasia	5/9	OMIM:615935
256297	PTF1A	HP:0002594	Pancreatic hypoplasia	-	OMIM:609069
256297	PTF1A	HP:0002570	Steatorrhea	-	OMIM:615935
256297	PTF1A	HP:0001371	Flexion contracture	1/1	OMIM:609069
256297	PTF1A	HP:0001387	Joint stiffness	-	OMIM:609069
256297	PTF1A	HP:0008846	Severe intrauterine growth retardation	1/1	OMIM:609069
256297	PTF1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:615935
256297	PTF1A	HP:0000007	Autosomal recessive inheritance	-	OMIM:609069
256297	PTF1A	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:65288
256297	PTF1A	HP:0001321	Cerebellar hypoplasia	-	OMIM:609069
256297	PTF1A	HP:0002104	Apnea	-	OMIM:609069
256297	PTF1A	HP:0010557	Overlapping fingers	HP:0040283	OMIM:609069
256297	PTF1A	HP:0003593	Infantile onset	3/14	OMIM:615935
256297	PTF1A	HP:0002335	Agenesis of cerebellar vermis	1/1	OMIM:609069
256297	PTF1A	HP:0003623	Neonatal onset	8/14	OMIM:615935
256297	PTF1A	HP:0003621	Juvenile onset	2/14	OMIM:615935
256297	PTF1A	HP:0001943	Hypoglycemia	-	OMIM:609069
256297	PTF1A	HP:0000609	Optic nerve hypoplasia	1/1	OMIM:609069
256297	PTF1A	HP:0000609	Optic nerve hypoplasia	HP:0040281	ORPHA:65288
256297	PTF1A	HP:0001903	Anemia	-	OMIM:609069
256297	PTF1A	HP:0011342	Mild global developmental delay	1/14	OMIM:615935
256297	PTF1A	HP:0012642	Cerebellar agenesis	1/1	OMIM:609069
256297	PTF1A	HP:0003074	Hyperglycemia	1/1	OMIM:609069
256297	PTF1A	HP:0000768	Pectus carinatum	HP:0040283	OMIM:609069
256297	PTF1A	HP:0011462	Young adult onset	1/14	OMIM:615935
256297	PTF1A	HP:0000857	Neonatal insulin-dependent diabetes mellitus	HP:0040281	ORPHA:65288
256297	PTF1A	HP:0000819	Diabetes mellitus	-	OMIM:609069
256297	PTF1A	HP:0000819	Diabetes mellitus	14/14	OMIM:615935
256297	PTF1A	HP:0000252	Microcephaly	-	OMIM:609069
256297	PTF1A	HP:0001522	Death in infancy	1/1	OMIM:609069
256297	PTF1A	HP:0001508	Failure to thrive	-	OMIM:609069
256297	PTF1A	HP:0001518	Small for gestational age	-	OMIM:615935
256297	PTF1A	HP:0000377	Abnormal pinna morphology	-	OMIM:609069
256297	PTF1A	HP:0000369	Low-set ears	HP:0040281	ORPHA:65288
256297	PTF1A	HP:0000369	Low-set ears	-	OMIM:609069
256297	PTF1A	HP:0001684	Secundum atrial septal defect	HP:0040283	OMIM:609069
256297	PTF1A	HP:0000331	Short chin	-	OMIM:609069
256297	PTF1A	HP:0000331	Short chin	HP:0040281	ORPHA:65288
256297	PTF1A	HP:0000325	Triangular face	HP:0040281	ORPHA:65288
256297	PTF1A	HP:0000325	Triangular face	-	OMIM:609069
256297	PTF1A	HP:0001738	Exocrine pancreatic insufficiency	14/14	OMIM:615935
256297	PTF1A	HP:0000444	Convex nasal ridge	-	OMIM:609069
256471	MFSD8	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
256471	MFSD8	HP:0001272	Cerebellar atrophy	-	OMIM:610951
256471	MFSD8	HP:0001268	Mental deterioration	-	OMIM:610951
256471	MFSD8	HP:0001251	Ataxia	-	OMIM:610951
256471	MFSD8	HP:0001263	Global developmental delay	-	OMIM:610951
256471	MFSD8	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
256471	MFSD8	HP:0000007	Autosomal recessive inheritance	-	OMIM:610951
256471	MFSD8	HP:0000007	Autosomal recessive inheritance	-	OMIM:616170
256471	MFSD8	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
256471	MFSD8	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
256471	MFSD8	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
256471	MFSD8	HP:0007663	Reduced visual acuity	6/6	OMIM:616170
256471	MFSD8	HP:0002059	Cerebral atrophy	-	OMIM:610951
256471	MFSD8	HP:0002123	Generalized myoclonic seizure	-	OMIM:610951
256471	MFSD8	HP:0002180	Neurodegeneration	-	OMIM:610951
256471	MFSD8	HP:0003596	Middle age onset	3/6	OMIM:616170
256471	MFSD8	HP:0002360	Sleep abnormality	-	OMIM:610951
256471	MFSD8	HP:0002353	EEG abnormality	-	OMIM:610951
256471	MFSD8	HP:0003678	Rapidly progressive	-	OMIM:610951
256471	MFSD8	HP:0003621	Juvenile onset	8/19	OMIM:180100
256471	MFSD8	HP:0003621	Juvenile onset	-	OMIM:610951
256471	MFSD8	HP:0000648	Optic atrophy	-	OMIM:610951
256471	MFSD8	HP:0000642	Red-green dyschromatopsia	4/5	OMIM:616170
256471	MFSD8	HP:0000618	Blindness	-	OMIM:610951
256471	MFSD8	HP:0000603	Central scotoma	6/6	OMIM:616170
256471	MFSD8	HP:0000662	Nyctalopia	26/28	OMIM:180100
256471	MFSD8	HP:0030629	Perifoveal ring of hyperautofluorescence	1/6	OMIM:616170
256471	MFSD8	HP:0000750	Delayed speech and language development	-	OMIM:610951
256471	MFSD8	HP:0011463	Childhood onset	3/19	OMIM:180100
256471	MFSD8	HP:0011462	Young adult onset	8/19	OMIM:180100
256471	MFSD8	HP:0011504	Bull's eye maculopathy	2/4	OMIM:616170
256471	MFSD8	HP:0007754	Macular dystrophy	6/6	OMIM:616170
256471	MFSD8	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
256471	MFSD8	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
256471	MFSD8	HP:0011003	High myopia	3/6	OMIM:616170
256471	MFSD8	HP:0000488	Retinopathy	-	OMIM:610951
256471	MFSD8	HP:0025710	Late young adult onset	3/6	OMIM:616170
256471	MFSD8	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
256471	MFSD8	HP:0000505	Visual impairment	6/6	OMIM:616170
256471	MFSD8	HP:0000580	Pigmentary retinopathy	-	OMIM:610951
256471	MFSD8	HP:0000575	Scotoma	5/18	OMIM:180100
256471	MFSD8	HP:0000572	Visual loss	-	OMIM:610951
256471	MFSD8	HP:0000543	Optic disc pallor	1/6	OMIM:616170
256471	MFSD8	HP:0000543	Optic disc pallor	1/1	OMIM:180100
256471	MFSD8	HP:0000545	Myopia	-	OMIM:180100
256472	TMEM151A	HP:0001266	Choreoathetosis	3/17	OMIM:620245
256472	TMEM151A	HP:0003829	Typified by incomplete penetrance	20/20	OMIM:620245
256472	TMEM151A	HP:0001332	Dystonia	17/21	OMIM:620245
256472	TMEM151A	HP:0000006	Autosomal dominant inheritance	-	OMIM:620245
256472	TMEM151A	HP:0003621	Juvenile onset	20/20	OMIM:620245
256472	TMEM151A	HP:0004305	Involuntary movements	3/4	OMIM:620245
256472	TMEM151A	HP:0000473	Torticollis	1/4	OMIM:620245
256646	NUTM1	HP:0002664	Neoplasm	HP:0040281	ORPHA:443167
256646	NUTM1	HP:0012182	Oropharyngeal squamous cell carcinoma	HP:0040282	ORPHA:443167
256646	NUTM1	HP:0012142	Pancreatic squamous cell carcinoma	HP:0040283	ORPHA:443167
256646	NUTM1	HP:0100757	Pancreatoblastoma	HP:0040282	ORPHA:443167
256646	NUTM1	HP:0001909	Leukemia	HP:0040282	ORPHA:443167
256646	NUTM1	HP:0003006	Neuroblastoma	HP:0040282	ORPHA:443167
256646	NUTM1	HP:0045026	Abnormal mediastinum morphology	HP:0040282	ORPHA:443167
256646	NUTM1	HP:0012254	Ewing sarcoma	HP:0040282	ORPHA:443167
256646	NUTM1	HP:0002860	Squamous cell carcinoma	HP:0040282	ORPHA:443167
256764	WDR72	HP:0000007	Autosomal recessive inheritance	-	OMIM:613211
256764	WDR72	HP:0006285	Enamel hypomineralization	-	OMIM:613211
256764	WDR72	HP:0000705	Amelogenesis imperfecta	-	OMIM:613211
256764	WDR72	HP:0011085	Hypomature dental enamel	-	OMIM:613211
259232	NALCN	HP:0001181	Adducted thumb	14/14	OMIM:616266
259232	NALCN	HP:0001181	Adducted thumb	HP:0040281	ORPHA:1147
259232	NALCN	HP:0001181	Adducted thumb	HP:0040281	ORPHA:1146
259232	NALCN	HP:0001181	Adducted thumb	HP:0040282	ORPHA:562528
259232	NALCN	HP:0001166	Arachnodactyly	HP:0040284	ORPHA:562528
259232	NALCN	HP:0002465	Poor speech	-	OMIM:615419
259232	NALCN	HP:0009931	Enlarged naris	HP:0040282	ORPHA:562528
259232	NALCN	HP:0009931	Enlarged naris	14/14	OMIM:616266
259232	NALCN	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	HP:0040282	ORPHA:562528
259232	NALCN	HP:0007256	Abnormal pyramidal sign	-	OMIM:615419
259232	NALCN	HP:0001276	Hypertonia	HP:0040283	ORPHA:562528
259232	NALCN	HP:0001272	Cerebellar atrophy	3/10	OMIM:616266
259232	NALCN	HP:0001270	Motor delay	14/14	OMIM:616266
259232	NALCN	HP:0001270	Motor delay	HP:0040282	ORPHA:562528
259232	NALCN	HP:0100830	Round ear	HP:0040282	ORPHA:1147
259232	NALCN	HP:0001250	Seizure	HP:0040283	ORPHA:562528
259232	NALCN	HP:0001250	Seizure	2/2	OMIM:615419
259232	NALCN	HP:0001250	Seizure	2/14	OMIM:616266
259232	NALCN	HP:0001252	Hypotonia	HP:0040282	ORPHA:562528
259232	NALCN	HP:0001252	Hypotonia	7/13	OMIM:616266
259232	NALCN	HP:0001251	Ataxia	HP:0040283	ORPHA:562528
259232	NALCN	HP:0001249	Intellectual disability	HP:0040282	ORPHA:562528
259232	NALCN	HP:0001263	Global developmental delay	HP:0040282	ORPHA:562528
259232	NALCN	HP:0001263	Global developmental delay	12/12	OMIM:615419
259232	NALCN	HP:0001263	Global developmental delay	11/13	OMIM:616266
259232	NALCN	HP:0002510	Spastic tetraplegia	2/2	OMIM:615419
259232	NALCN	HP:0001371	Flexion contracture	HP:0040282	ORPHA:562528
259232	NALCN	HP:0001387	Joint stiffness	HP:0040281	ORPHA:2053
259232	NALCN	HP:0001387	Joint stiffness	HP:0040281	ORPHA:1147
259232	NALCN	HP:0001387	Joint stiffness	HP:0040282	ORPHA:1146
259232	NALCN	HP:0000023	Inguinal hernia	8/13	OMIM:616266
259232	NALCN	HP:0001347	Hyperreflexia	-	OMIM:615419
259232	NALCN	HP:0000028	Cryptorchidism	1/1	OMIM:615419
259232	NALCN	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:2053
259232	NALCN	HP:0008897	Postnatal growth retardation	-	OMIM:615419
259232	NALCN	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:2053
259232	NALCN	HP:0001344	Absent speech	2/2	OMIM:615419
259232	NALCN	HP:0000007	Autosomal recessive inheritance	-	OMIM:615419
259232	NALCN	HP:0000006	Autosomal dominant inheritance	-	OMIM:616266
259232	NALCN	HP:0002650	Scoliosis	1/2	OMIM:615419
259232	NALCN	HP:0002650	Scoliosis	5/13	OMIM:616266
259232	NALCN	HP:0002650	Scoliosis	HP:0040281	ORPHA:2053
259232	NALCN	HP:0002650	Scoliosis	HP:0040283	ORPHA:562528
259232	NALCN	HP:0002650	Scoliosis	HP:0040281	ORPHA:1147
259232	NALCN	HP:0002643	Neonatal respiratory distress	9/11	OMIM:616266
259232	NALCN	HP:0000164	Abnormality of the dentition	HP:0040281	ORPHA:2053
259232	NALCN	HP:0000160	Narrow mouth	HP:0040281	ORPHA:2053
259232	NALCN	HP:0000160	Narrow mouth	HP:0040283	ORPHA:562528
259232	NALCN	HP:0000160	Narrow mouth	HP:0040283	ORPHA:1146
259232	NALCN	HP:0000154	Wide mouth	-	OMIM:615419
259232	NALCN	HP:0008936	Axial hypotonia	2/2	OMIM:615419
259232	NALCN	HP:0007598	Bilateral single transverse palmar creases	HP:0040281	ORPHA:1147
259232	NALCN	HP:0002793	Abnormal pattern of respiration	HP:0040282	ORPHA:562528
259232	NALCN	HP:0002020	Gastroesophageal reflux	9/11	OMIM:616266
259232	NALCN	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:562528
259232	NALCN	HP:0002020	Gastroesophageal reflux	-	OMIM:615419
259232	NALCN	HP:0002019	Constipation	HP:0040283	ORPHA:562528
259232	NALCN	HP:0002019	Constipation	5/6	OMIM:616266
259232	NALCN	HP:0002019	Constipation	-	OMIM:615419
259232	NALCN	HP:0002000	Short columella	14/14	OMIM:616266
259232	NALCN	HP:0002000	Short columella	HP:0040282	ORPHA:562528
259232	NALCN	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:562528
259232	NALCN	HP:0002093	Respiratory insufficiency	7/10	OMIM:616266
259232	NALCN	HP:0002047	Malignant hyperthermia	HP:0040282	ORPHA:2053
259232	NALCN	HP:0002059	Cerebral atrophy	2/10	OMIM:616266
259232	NALCN	HP:0009465	Ulnar deviation of finger	HP:0040281	ORPHA:2053
259232	NALCN	HP:0009465	Ulnar deviation of finger	HP:0040282	ORPHA:1147
259232	NALCN	HP:0009465	Ulnar deviation of finger	HP:0040282	ORPHA:1146
259232	NALCN	HP:0010489	Absent palmar crease	HP:0040283	ORPHA:2053
259232	NALCN	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:615419
259232	NALCN	HP:0003422	Vertebral segmentation defect	HP:0040282	ORPHA:1147
259232	NALCN	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:2053
259232	NALCN	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:2053
259232	NALCN	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:1146
259232	NALCN	HP:0010557	Overlapping fingers	HP:0040282	ORPHA:1147
259232	NALCN	HP:0010557	Overlapping fingers	HP:0040281	ORPHA:1146
259232	NALCN	HP:0011824	Chin with H-shaped crease	HP:0040282	ORPHA:562528
259232	NALCN	HP:0011824	Chin with H-shaped crease	8/14	OMIM:616266
259232	NALCN	HP:0003577	Congenital onset	2/2	OMIM:615419
259232	NALCN	HP:0003577	Congenital onset	14/14	OMIM:616266
259232	NALCN	HP:0100790	Hernia	HP:0040283	ORPHA:2053
259232	NALCN	HP:0100790	Hernia	HP:0040282	ORPHA:562528
259232	NALCN	HP:0008368	Tarsal synostosis	HP:0040282	ORPHA:1147
259232	NALCN	HP:0011968	Feeding difficulties	-	OMIM:615419
259232	NALCN	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:562528
259232	NALCN	HP:0002376	Developmental regression	2/2	OMIM:615419
259232	NALCN	HP:0003676	Progressive	-	OMIM:615419
259232	NALCN	HP:0010751	Dimple chin	HP:0040281	ORPHA:2053
259232	NALCN	HP:0002307	Drooling	HP:0040283	ORPHA:562528
259232	NALCN	HP:0002307	Drooling	4/4	OMIM:616266
259232	NALCN	HP:0000639	Nystagmus	-	OMIM:615419
259232	NALCN	HP:0000648	Optic atrophy	2/2	OMIM:615419
259232	NALCN	HP:0004322	Short stature	HP:0040282	ORPHA:2053
259232	NALCN	HP:0004322	Short stature	HP:0040283	ORPHA:562528
259232	NALCN	HP:0004322	Short stature	HP:0040282	ORPHA:1147
259232	NALCN	HP:0003049	Ulnar deviation of the wrist	HP:0040282	ORPHA:1147
259232	NALCN	HP:0000768	Pectus carinatum	1/2	OMIM:615419
259232	NALCN	HP:0000750	Delayed speech and language development	12/12	OMIM:616266
259232	NALCN	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:562528
259232	NALCN	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:562528
259232	NALCN	HP:0003196	Short nose	2/2	OMIM:615419
259232	NALCN	HP:0000878	11 pairs of ribs	1/14	OMIM:616266
259232	NALCN	HP:0000817	Reduced eye contact	-	OMIM:615419
259232	NALCN	HP:0003202	Skeletal muscle atrophy	-	OMIM:615419
259232	NALCN	HP:0034392	Joint contracture	2/2	OMIM:615419
259232	NALCN	HP:0003273	Hip contracture	9/14	OMIM:616266
259232	NALCN	HP:0003272	Abnormal hip bone morphology	HP:0040282	ORPHA:1147
259232	NALCN	HP:0003272	Abnormal hip bone morphology	HP:0040283	ORPHA:1146
259232	NALCN	HP:0000286	Epicanthus	HP:0040283	ORPHA:562528
259232	NALCN	HP:0000293	Full cheeks	13/14	OMIM:616266
259232	NALCN	HP:0000256	Macrocephaly	HP:0040284	ORPHA:562528
259232	NALCN	HP:0000275	Narrow face	HP:0040282	ORPHA:1147
259232	NALCN	HP:0002803	Congenital contracture	-	OMIM:616266
259232	NALCN	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:562528
259232	NALCN	HP:0006380	Knee flexion contracture	9/14	OMIM:616266
259232	NALCN	HP:0000252	Microcephaly	HP:0040283	ORPHA:562528
259232	NALCN	HP:0000252	Microcephaly	2/2	OMIM:615419
259232	NALCN	HP:0000248	Brachycephaly	HP:0040283	ORPHA:562528
259232	NALCN	HP:0000248	Brachycephaly	-	OMIM:615419
259232	NALCN	HP:0000219	Thin upper lip vermilion	-	OMIM:615419
259232	NALCN	HP:0000218	High palate	HP:0040283	ORPHA:562528
259232	NALCN	HP:0000218	High palate	HP:0040282	ORPHA:1147
259232	NALCN	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:2053
259232	NALCN	HP:0001561	Polyhydramnios	HP:0040283	ORPHA:2053
259232	NALCN	HP:0001557	Prenatal movement abnormality	HP:0040282	ORPHA:2053
259232	NALCN	HP:0001537	Umbilical hernia	2/13	OMIM:616266
259232	NALCN	HP:0000205	Pursed lips	HP:0040282	ORPHA:562528
259232	NALCN	HP:0000205	Pursed lips	9/13	OMIM:616266
259232	NALCN	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2053
259232	NALCN	HP:0001511	Intrauterine growth retardation	2/2	OMIM:615419
259232	NALCN	HP:0001510	Growth delay	HP:0040281	ORPHA:2053
259232	NALCN	HP:0006501	Aplasia/Hypoplasia of the radius	HP:0040281	ORPHA:1147
259232	NALCN	HP:0012385	Camptodactyly	HP:0040281	ORPHA:562528
259232	NALCN	HP:0012385	Camptodactyly	14/14	OMIM:616266
259232	NALCN	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:2053
259232	NALCN	HP:0000365	Hearing impairment	HP:0040282	ORPHA:2053
259232	NALCN	HP:0000369	Low-set ears	2/2	OMIM:615419
259232	NALCN	HP:0000369	Low-set ears	HP:0040283	ORPHA:562528
259232	NALCN	HP:0000343	Long philtrum	7/7	OMIM:616266
259232	NALCN	HP:0000343	Long philtrum	HP:0040282	ORPHA:2053
259232	NALCN	HP:0000343	Long philtrum	HP:0040282	ORPHA:562528
259232	NALCN	HP:0000337	Broad forehead	HP:0040283	ORPHA:562528
259232	NALCN	HP:0000347	Micrognathia	2/2	OMIM:615419
259232	NALCN	HP:0000347	Micrognathia	13/14	OMIM:616266
259232	NALCN	HP:0000347	Micrognathia	HP:0040282	ORPHA:562528
259232	NALCN	HP:0000347	Micrognathia	HP:0040282	ORPHA:1147
259232	NALCN	HP:0000319	Smooth philtrum	HP:0040283	ORPHA:562528
259232	NALCN	HP:0000319	Smooth philtrum	-	OMIM:615419
259232	NALCN	HP:0000316	Hypertelorism	HP:0040281	ORPHA:2053
259232	NALCN	HP:0000316	Hypertelorism	HP:0040284	ORPHA:562528
259232	NALCN	HP:0002987	Elbow flexion contracture	7/14	OMIM:616266
259232	NALCN	HP:0000325	Triangular face	-	OMIM:615419
259232	NALCN	HP:0000400	Macrotia	HP:0040284	ORPHA:562528
259232	NALCN	HP:0000400	Macrotia	2/2	OMIM:615419
259232	NALCN	HP:0005272	Prominent nasolabial fold	13/14	OMIM:616266
259232	NALCN	HP:0000486	Strabismus	2/2	OMIM:615419
259232	NALCN	HP:0000486	Strabismus	7/13	OMIM:616266
259232	NALCN	HP:0000486	Strabismus	HP:0040282	ORPHA:2053
259232	NALCN	HP:0000486	Strabismus	HP:0040282	ORPHA:562528
259232	NALCN	HP:0000494	Downslanted palpebral fissures	11/13	OMIM:616266
259232	NALCN	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:2053
259232	NALCN	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:562528
259232	NALCN	HP:0000490	Deeply set eye	HP:0040282	ORPHA:2053
259232	NALCN	HP:0000463	Anteverted nares	12/14	OMIM:616266
259232	NALCN	HP:0000457	Depressed nasal ridge	HP:0040281	ORPHA:2053
259232	NALCN	HP:0000470	Short neck	10/12	OMIM:616266
259232	NALCN	HP:0000470	Short neck	HP:0040282	ORPHA:562528
259232	NALCN	HP:0000470	Short neck	HP:0040282	ORPHA:1147
259232	NALCN	HP:0000465	Webbed neck	HP:0040281	ORPHA:1147
259232	NALCN	HP:0000417	Slender nose	HP:0040284	ORPHA:562528
259232	NALCN	HP:0000417	Slender nose	-	OMIM:615419
259232	NALCN	HP:0000411	Protruding ear	HP:0040282	ORPHA:1147
259232	NALCN	HP:0001762	Talipes equinovarus	10/14	OMIM:616266
259232	NALCN	HP:0001762	Talipes equinovarus	HP:0040281	ORPHA:2053
259232	NALCN	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:562528
259232	NALCN	HP:0000431	Wide nasal bridge	14/14	OMIM:616266
259232	NALCN	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:2053
259232	NALCN	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:562528
259232	NALCN	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:1147
259232	NALCN	HP:0000430	Underdeveloped nasal alae	HP:0040281	ORPHA:2053
259232	NALCN	HP:0001848	Calcaneovalgus deformity	HP:0040283	ORPHA:562528
259232	NALCN	HP:0001848	Calcaneovalgus deformity	3/14	OMIM:616266
259232	NALCN	HP:0001840	Metatarsus adductus	1/7	OMIM:616266
259232	NALCN	HP:0001838	Rocker bottom foot	HP:0040283	ORPHA:1146
259232	NALCN	HP:0000508	Ptosis	HP:0040282	ORPHA:2053
259232	NALCN	HP:0011220	Prominent forehead	2/2	OMIM:615419
259232	NALCN	HP:0000565	Esotropia	HP:0040283	ORPHA:562528
259232	NALCN	HP:0000565	Esotropia	2/13	OMIM:616266
259232	NALCN	HP:0001883	Talipes	HP:0040282	ORPHA:1146
259232	NALCN	HP:0000545	Myopia	HP:0040284	ORPHA:562528
259236	TMIE	HP:0000007	Autosomal recessive inheritance	-	OMIM:600971
259236	TMIE	HP:0003577	Congenital onset	-	OMIM:600971
259236	TMIE	HP:0000365	Hearing impairment	15/15	OMIM:600971
259266	ASPM	HP:0002472	Small cerebral cortex	-	OMIM:608716
259266	ASPM	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
259266	ASPM	HP:0009879	Simplified gyral pattern	1/1	OMIM:608716
259266	ASPM	HP:0001274	Agenesis of corpus callosum	-	OMIM:608716
259266	ASPM	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
259266	ASPM	HP:0001270	Motor delay	1/1	OMIM:608716
259266	ASPM	HP:0001250	Seizure	1/21	OMIM:608716
259266	ASPM	HP:0001249	Intellectual disability	24/24	OMIM:608716
259266	ASPM	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
259266	ASPM	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
259266	ASPM	HP:0002539	Cortical dysplasia	HP:0040283	OMIM:608716
259266	ASPM	HP:0002553	Highly arched eyebrow	-	OMIM:608716
259266	ASPM	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
259266	ASPM	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
259266	ASPM	HP:0000007	Autosomal recessive inheritance	-	OMIM:608716
259266	ASPM	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
259266	ASPM	HP:0001321	Cerebellar hypoplasia	HP:0040283	OMIM:608716
259266	ASPM	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
259266	ASPM	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:608716
259266	ASPM	HP:0002119	Ventriculomegaly	-	OMIM:608716
259266	ASPM	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
259266	ASPM	HP:0002179	Opisthotonus	1/1	OMIM:608716
259266	ASPM	HP:0003577	Congenital onset	6/6	OMIM:608716
259266	ASPM	HP:0100716	Self-injurious behavior	2/21	OMIM:608716
259266	ASPM	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
259266	ASPM	HP:0007018	Attention deficit hyperactivity disorder	-	OMIM:608716
259266	ASPM	HP:0004325	Decreased body weight	14/22	OMIM:608716
259266	ASPM	HP:0004322	Short stature	16/22	OMIM:608716
259266	ASPM	HP:0004322	Short stature	HP:0040281	ORPHA:2512
259266	ASPM	HP:0006956	Lateral ventricle dilatation	1/1	OMIM:608716
259266	ASPM	HP:0000752	Hyperactivity	7/20	OMIM:608716
259266	ASPM	HP:0000750	Delayed speech and language development	1/1	OMIM:608716
259266	ASPM	HP:0000718	Aggressive behavior	3/21	OMIM:608716
259266	ASPM	HP:0011461	Fetal onset	1/1	OMIM:608716
259266	ASPM	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
259266	ASPM	HP:0000286	Epicanthus	1/1	OMIM:608716
259266	ASPM	HP:0000252	Microcephaly	28/28	OMIM:608716
259266	ASPM	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
259266	ASPM	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
259266	ASPM	HP:0000218	High palate	1/1	OMIM:608716
259266	ASPM	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
259266	ASPM	HP:0000365	Hearing impairment	HP:0040283	OMIM:608716
259266	ASPM	HP:0000341	Narrow forehead	-	OMIM:608716
259266	ASPM	HP:0000340	Sloping forehead	6/6	OMIM:608716
259266	ASPM	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
259266	ASPM	HP:0000347	Micrognathia	1/1	OMIM:608716
259266	ASPM	HP:0005469	Flat occiput	1/6	OMIM:608716
259266	ASPM	HP:0000520	Proptosis	-	OMIM:608716
259266	ASPM	HP:0000582	Upslanted palpebral fissure	1/1	OMIM:608716
259266	ASPM	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
261734	NPHP4	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
261734	NPHP4	HP:0001141	Severely reduced visual acuity	-	OMIM:606996
261734	NPHP4	HP:0003774	Stage 5 chronic kidney disease	21/21	OMIM:606996
261734	NPHP4	HP:0003774	Stage 5 chronic kidney disease	-	OMIM:606966
261734	NPHP4	HP:0003774	Stage 5 chronic kidney disease	HP:0040281	ORPHA:3156
261734	NPHP4	HP:0001251	Ataxia	HP:0040283	ORPHA:3156
261734	NPHP4	HP:0001263	Global developmental delay	HP:0040281	ORPHA:3156
261734	NPHP4	HP:0000090	Nephronophthisis	-	OMIM:606996
261734	NPHP4	HP:0000090	Nephronophthisis	-	OMIM:606966
261734	NPHP4	HP:0000090	Nephronophthisis	HP:0040282	ORPHA:3156
261734	NPHP4	HP:0000092	Renal tubular atrophy	-	OMIM:606966
261734	NPHP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:606996
261734	NPHP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:606966
261734	NPHP4	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
261734	NPHP4	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
261734	NPHP4	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:3156
261734	NPHP4	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
261734	NPHP4	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
261734	NPHP4	HP:0000108	Renal corticomedullary cysts	-	OMIM:606966
261734	NPHP4	HP:0000103	Polyuria	-	OMIM:606996
261734	NPHP4	HP:0000103	Polyuria	-	OMIM:606966
261734	NPHP4	HP:0008209	Premature ovarian insufficiency	HP:0040282	ORPHA:3156
261734	NPHP4	HP:0010579	Cone-shaped epiphysis	HP:0040283	ORPHA:3156
261734	NPHP4	HP:0003621	Juvenile onset	8/19	OMIM:180100
261734	NPHP4	HP:0005576	Tubulointerstitial fibrosis	-	OMIM:606966
261734	NPHP4	HP:0012622	Chronic kidney disease	HP:0040281	ORPHA:3156
261734	NPHP4	HP:0000646	Amblyopia	-	OMIM:606996
261734	NPHP4	HP:0001959	Polydipsia	-	OMIM:606996
261734	NPHP4	HP:0001959	Polydipsia	-	OMIM:606966
261734	NPHP4	HP:0001903	Anemia	-	OMIM:606996
261734	NPHP4	HP:0001903	Anemia	-	OMIM:606966
261734	NPHP4	HP:0000662	Nyctalopia	26/28	OMIM:180100
261734	NPHP4	HP:0004322	Short stature	HP:0040281	ORPHA:3156
261734	NPHP4	HP:0004348	Abnormality of bone mineral density	HP:0040283	ORPHA:3156
261734	NPHP4	HP:0011463	Childhood onset	3/19	OMIM:180100
261734	NPHP4	HP:0011462	Young adult onset	8/19	OMIM:180100
261734	NPHP4	HP:0000822	Hypertension	HP:0040281	ORPHA:3156
261734	NPHP4	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:3156
261734	NPHP4	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
261734	NPHP4	HP:0001583	Rotary nystagmus	-	OMIM:606996
261734	NPHP4	HP:0001510	Growth delay	-	OMIM:606966
261734	NPHP4	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
261734	NPHP4	HP:0000518	Cataract	HP:0040283	ORPHA:3156
261734	NPHP4	HP:0000510	Rod-cone dystrophy	7/21	OMIM:606996
261734	NPHP4	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
261734	NPHP4	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:3156
261734	NPHP4	HP:0000505	Visual impairment	HP:0040281	ORPHA:3156
261734	NPHP4	HP:0000575	Scotoma	5/18	OMIM:180100
261734	NPHP4	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:3156
261734	NPHP4	HP:0000543	Optic disc pallor	1/1	OMIM:180100
261734	NPHP4	HP:0000545	Myopia	-	OMIM:180100
267010	RNU12	HP:0009879	Simplified gyral pattern	0/5	OMIM:620208
267010	RNU12	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:512260
267010	RNU12	HP:0001273	Abnormal corpus callosum morphology	-	ORPHA:512260
267010	RNU12	HP:0002599	Head titubation	6/6	OMIM:620208
267010	RNU12	HP:0001288	Gait disturbance	HP:0040282	ORPHA:512260
267010	RNU12	HP:0001252	Hypotonia	5/6	OMIM:620208
267010	RNU12	HP:0001249	Intellectual disability	HP:0040282	ORPHA:85199
267010	RNU12	HP:0001260	Dysarthria	5/6	OMIM:620208
267010	RNU12	HP:0001260	Dysarthria	HP:0040282	ORPHA:512260
267010	RNU12	HP:0001263	Global developmental delay	4/7	OMIM:603116
267010	RNU12	HP:0001263	Global developmental delay	HP:0040282	ORPHA:85199
267010	RNU12	HP:0000047	Hypospadias	4/4	OMIM:603116
267010	RNU12	HP:0000047	Hypospadias	HP:0040281	ORPHA:85199
267010	RNU12	HP:0002697	Parietal foramina	5/5	OMIM:603116
267010	RNU12	HP:0002697	Parietal foramina	HP:0040281	ORPHA:85199
267010	RNU12	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:85199
267010	RNU12	HP:0000007	Autosomal recessive inheritance	-	OMIM:603116
267010	RNU12	HP:0000007	Autosomal recessive inheritance	-	OMIM:620208
267010	RNU12	HP:0001321	Cerebellar hypoplasia	5/5	OMIM:620208
267010	RNU12	HP:0000175	Cleft palate	-	OMIM:603116
267010	RNU12	HP:0000175	Cleft palate	HP:0040283	ORPHA:85199
267010	RNU12	HP:0000174	Abnormal palate morphology	HP:0040281	ORPHA:85199
267010	RNU12	HP:0000143	Rectovaginal fistula	-	OMIM:603116
267010	RNU12	HP:0000154	Wide mouth	HP:0040282	ORPHA:85199
267010	RNU12	HP:0007663	Reduced visual acuity	0/6	OMIM:620208
267010	RNU12	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:512260
267010	RNU12	HP:0025407	Rectourethral fistula	3/7	OMIM:603116
267010	RNU12	HP:0001410	Decreased liver function	HP:0040283	ORPHA:512260
267010	RNU12	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:85199
267010	RNU12	HP:0002023	Anal atresia	7/7	OMIM:603116
267010	RNU12	HP:0002023	Anal atresia	HP:0040281	ORPHA:85199
267010	RNU12	HP:0002007	Frontal bossing	-	OMIM:603116
267010	RNU12	HP:0002007	Frontal bossing	HP:0040281	ORPHA:85199
267010	RNU12	HP:0003324	Generalized muscle weakness	6/6	OMIM:620208
267010	RNU12	HP:0011800	Midface retrusion	-	OMIM:603116
267010	RNU12	HP:0002080	Intention tremor	6/6	OMIM:620208
267010	RNU12	HP:0002080	Intention tremor	HP:0040282	ORPHA:512260
267010	RNU12	HP:0002066	Gait ataxia	6/6	OMIM:620208
267010	RNU12	HP:0002066	Gait ataxia	HP:0040282	ORPHA:512260
267010	RNU12	HP:0003391	Gowers sign	0/6	OMIM:620208
267010	RNU12	HP:0002078	Truncal ataxia	6/6	OMIM:620208
267010	RNU12	HP:0100589	Urogenital fistula	HP:0040281	ORPHA:85199
267010	RNU12	HP:0002120	Cerebral cortical atrophy	-	ORPHA:512260
267010	RNU12	HP:0002136	Broad-based gait	6/6	OMIM:620208
267010	RNU12	HP:0002136	Broad-based gait	HP:0040282	ORPHA:512260
267010	RNU12	HP:0002198	Dilated fourth ventricle	5/5	OMIM:620208
267010	RNU12	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:512260
267010	RNU12	HP:0003593	Infantile onset	6/6	OMIM:620208
267010	RNU12	HP:0003577	Congenital onset	7/7	OMIM:603116
267010	RNU12	HP:0002223	Absent eyebrow	HP:0040281	ORPHA:85199
267010	RNU12	HP:0002209	Sparse scalp hair	-	OMIM:603116
267010	RNU12	HP:0002280	Enlarged cisterna magna	5/5	OMIM:620208
267010	RNU12	HP:0008368	Tarsal synostosis	HP:0040281	ORPHA:85199
267010	RNU12	HP:0007010	Poor fine motor coordination	HP:0040282	ORPHA:512260
267010	RNU12	HP:0002384	Focal impaired awareness seizure	1/6	OMIM:620208
267010	RNU12	HP:0002359	Frequent falls	6/6	OMIM:620208
267010	RNU12	HP:0002359	Frequent falls	HP:0040282	ORPHA:512260
267010	RNU12	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	3/6	OMIM:620208
267010	RNU12	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:512260
267010	RNU12	HP:0200044	Porokeratosis	2/5	OMIM:603116
267010	RNU12	HP:0200044	Porokeratosis	HP:0040281	ORPHA:85199
267010	RNU12	HP:0006855	Cerebellar vermis atrophy	HP:0040282	ORPHA:512260
267010	RNU12	HP:0000639	Nystagmus	HP:0040283	ORPHA:512260
267010	RNU12	HP:0000682	Abnormal dental enamel morphology	HP:0040281	ORPHA:85199
267010	RNU12	HP:0000656	Ectropion	-	OMIM:603116
267010	RNU12	HP:0000653	Sparse eyelashes	-	OMIM:603116
267010	RNU12	HP:0004397	Ectopic anus	HP:0040281	ORPHA:85199
267010	RNU12	HP:0031936	Delayed ability to walk	6/6	OMIM:620208
267010	RNU12	HP:0012742	Thin fingernail	HP:0040281	ORPHA:85199
267010	RNU12	HP:0000773	Short ribs	-	OMIM:603116
267010	RNU12	HP:0012759	Neurodevelopmental abnormality	HP:0040282	ORPHA:512260
267010	RNU12	HP:0004443	Lambdoidal craniosynostosis	2/5	OMIM:603116
267010	RNU12	HP:0004442	Sagittal craniosynostosis	2/5	OMIM:603116
267010	RNU12	HP:0004440	Coronal craniosynostosis	5/5	OMIM:603116
267010	RNU12	HP:0004440	Coronal craniosynostosis	HP:0040281	ORPHA:85199
267010	RNU12	HP:0004491	Large posterior fontanelle	HP:0040281	ORPHA:85199
267010	RNU12	HP:0000889	Abnormal clavicle morphology	HP:0040281	ORPHA:85199
267010	RNU12	HP:0000894	Short clavicles	5/6	OMIM:603116
267010	RNU12	HP:0045075	Sparse eyebrow	-	OMIM:603116
267010	RNU12	HP:0010306	Short thorax	HP:0040281	ORPHA:85199
267010	RNU12	HP:0000964	Eczematoid dermatitis	HP:0040281	ORPHA:85199
267010	RNU12	HP:0011675	Arrhythmia	0/6	OMIM:620208
267010	RNU12	HP:0000260	Wide anterior fontanel	HP:0040281	ORPHA:85199
267010	RNU12	HP:0000270	Delayed cranial suture closure	-	OMIM:603116
267010	RNU12	HP:0000270	Delayed cranial suture closure	HP:0040281	ORPHA:85199
267010	RNU12	HP:0000272	Malar flattening	-	OMIM:603116
267010	RNU12	HP:0000272	Malar flattening	HP:0040282	ORPHA:85199
267010	RNU12	HP:0002808	Kyphosis	-	OMIM:603116
267010	RNU12	HP:0002808	Kyphosis	HP:0040283	ORPHA:85199
267010	RNU12	HP:0000239	Large fontanelles	6/6	OMIM:603116
267010	RNU12	HP:0000252	Microcephaly	0/6	OMIM:620208
267010	RNU12	HP:0000248	Brachycephaly	-	OMIM:603116
267010	RNU12	HP:0000248	Brachycephaly	HP:0040281	ORPHA:85199
267010	RNU12	HP:0006482	Abnormal dental morphology	HP:0040281	ORPHA:85199
267010	RNU12	HP:0000365	Hearing impairment	HP:0040282	ORPHA:85199
267010	RNU12	HP:0000347	Micrognathia	HP:0040282	ORPHA:85199
267010	RNU12	HP:0006660	Aplastic clavicle	HP:0040281	ORPHA:85199
267010	RNU12	HP:0000407	Sensorineural hearing impairment	-	OMIM:603116
267010	RNU12	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:85199
267010	RNU12	HP:0000520	Proptosis	HP:0040282	ORPHA:85199
267010	RNU12	HP:0000508	Ptosis	-	OMIM:603116
267010	RNU12	HP:0000561	Absent eyelashes	HP:0040281	ORPHA:85199
267012	DAOA	HP:0410291	Negativism	-	OMIM:181500
267012	DAOA	HP:0000006	Autosomal dominant inheritance	-	OMIM:181500
267012	DAOA	HP:0100753	Schizophrenia	-	OMIM:181500
267012	DAOA	HP:0007086	Social and occupational deterioration	-	OMIM:181500
267012	DAOA	HP:0002353	EEG abnormality	-	OMIM:181500
267012	DAOA	HP:0000738	Hallucinations	-	OMIM:181500
267012	DAOA	HP:0000746	Delusion	-	OMIM:181500
282809	POC1B	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
282809	POC1B	HP:0001133	Constriction of peripheral visual field	4/4	OMIM:615973
282809	POC1B	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
282809	POC1B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615973
282809	POC1B	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
282809	POC1B	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
282809	POC1B	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
282809	POC1B	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
282809	POC1B	HP:0007663	Reduced visual acuity	4/4	OMIM:615973
282809	POC1B	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
282809	POC1B	HP:0003593	Infantile onset	1/2	OMIM:615973
282809	POC1B	HP:0003621	Juvenile onset	8/19	OMIM:180100
282809	POC1B	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
282809	POC1B	HP:0000639	Nystagmus	1/1	OMIM:615973
282809	POC1B	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
282809	POC1B	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
282809	POC1B	HP:0000603	Central scotoma	4/4	OMIM:615973
282809	POC1B	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
282809	POC1B	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
282809	POC1B	HP:0000662	Nyctalopia	26/28	OMIM:180100
282809	POC1B	HP:0011463	Childhood onset	3/19	OMIM:180100
282809	POC1B	HP:0011463	Childhood onset	1/2	OMIM:615973
282809	POC1B	HP:0011462	Young adult onset	8/19	OMIM:180100
282809	POC1B	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
282809	POC1B	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
282809	POC1B	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
282809	POC1B	HP:0007737	Bone spicule pigmentation of the retina	2/4	OMIM:615973
282809	POC1B	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
282809	POC1B	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
282809	POC1B	HP:0011003	High myopia	1/4	OMIM:615973
282809	POC1B	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
282809	POC1B	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
282809	POC1B	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
282809	POC1B	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
282809	POC1B	HP:0000505	Visual impairment	-	OMIM:615973
282809	POC1B	HP:0000575	Scotoma	5/18	OMIM:180100
282809	POC1B	HP:0000552	Tritanomaly	2/3	OMIM:615973
282809	POC1B	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
282809	POC1B	HP:0000548	Cone/cone-rod dystrophy	-	OMIM:615973
282809	POC1B	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
282809	POC1B	HP:0000543	Optic disc pallor	1/1	OMIM:180100
282809	POC1B	HP:0000543	Optic disc pallor	1/4	OMIM:615973
282809	POC1B	HP:0000545	Myopia	-	OMIM:180100
282996	RBM20	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
282996	RBM20	HP:0025169	Left ventricular systolic dysfunction	-	OMIM:613172
282996	RBM20	HP:0000006	Autosomal dominant inheritance	-	OMIM:613172
282996	RBM20	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
282996	RBM20	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
282996	RBM20	HP:0011462	Young adult onset	3/3	OMIM:613172
282996	RBM20	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
282996	RBM20	HP:0003198	Myopathy	HP:0040283	ORPHA:154
282996	RBM20	HP:0000969	Edema	HP:0040282	ORPHA:154
282996	RBM20	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
282996	RBM20	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
282996	RBM20	HP:0012378	Fatigue	HP:0040282	ORPHA:154
282996	RBM20	HP:0001645	Sudden cardiac death	1/5	OMIM:613172
282996	RBM20	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
282996	RBM20	HP:0001644	Dilated cardiomyopathy	3/5	OMIM:613172
282996	RBM20	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
282996	RBM20	HP:0001635	Congestive heart failure	0/5	OMIM:613172
282996	RBM20	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
282996	RBM20	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
283120	H19	HP:0002475	Myelomeningocele	HP:0040283	ORPHA:2128
283120	H19	HP:0007328	Impaired pain sensation	HP:0040283	ORPHA:2128
283120	H19	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
283120	H19	HP:0001293	Cranial nerve compression	-	OMIM:131300
283120	H19	HP:0001270	Motor delay	HP:0040283	ORPHA:231140
283120	H19	HP:0001270	Motor delay	HP:0040283	ORPHA:231144
283120	H19	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:2128
283120	H19	HP:0001250	Seizure	HP:0040283	ORPHA:231140
283120	H19	HP:0001252	Hypotonia	2/7	OMIM:615777
283120	H19	HP:0001249	Intellectual disability	HP:0040283	ORPHA:231140
283120	H19	HP:0001249	Intellectual disability	5/7	OMIM:615777
283120	H19	HP:0001263	Global developmental delay	-	OMIM:615777
283120	H19	HP:0002515	Waddling gait	54/102	OMIM:131300
283120	H19	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:654
283120	H19	HP:0000085	Horseshoe kidney	HP:0040283	ORPHA:654
283120	H19	HP:0000076	Vesicoureteral reflux	-	OMIM:130650
283120	H19	HP:0001382	Joint hypermobility	-	OMIM:615777
283120	H19	HP:0000047	Hypospadias	HP:0040283	ORPHA:654
283120	H19	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:2128
283120	H19	HP:0002694	Sclerosis of skull base	-	OMIM:131300
283120	H19	HP:0033834	Malaise	HP:0040283	ORPHA:654
283120	H19	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2128
283120	H19	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:654
283120	H19	HP:0000028	Cryptorchidism	-	OMIM:130650
283120	H19	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:231140
283120	H19	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:231144
283120	H19	HP:0008897	Postnatal growth retardation	-	OMIM:615777
283120	H19	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:231140
283120	H19	HP:0008846	Severe intrauterine growth retardation	HP:0040283	ORPHA:231144
283120	H19	HP:0002664	Neoplasm	HP:0040281	ORPHA:654
283120	H19	HP:0001328	Specific learning disability	HP:0040283	ORPHA:231144
283120	H19	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
283120	H19	HP:0001324	Muscle weakness	40/96	OMIM:131300
283120	H19	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
283120	H19	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
283120	H19	HP:0002667	Nephroblastoma	HP:0040281	ORPHA:654
283120	H19	HP:0002667	Nephroblastoma	HP:0040283	ORPHA:2128
283120	H19	HP:0002667	Nephroblastoma	-	OMIM:130650
283120	H19	HP:0002667	Nephroblastoma	-	OMIM:194070
283120	H19	HP:0000006	Autosomal dominant inheritance	-	OMIM:130650
283120	H19	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
283120	H19	HP:0000006	Autosomal dominant inheritance	-	OMIM:194070
283120	H19	HP:0001305	Dandy-Walker malformation	HP:0040283	OMIM:130650
283120	H19	HP:0002650	Scoliosis	HP:0040281	ORPHA:2128
283120	H19	HP:0002650	Scoliosis	12/14	OMIM:131300
283120	H19	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
283120	H19	HP:0031105	Abnormal uterus morphology	HP:0040283	ORPHA:654
283120	H19	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
283120	H19	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
283120	H19	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
283120	H19	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:2128
283120	H19	HP:0000158	Macroglossia	-	OMIM:130650
283120	H19	HP:0000175	Cleft palate	2/7	OMIM:615777
283120	H19	HP:0001476	Delayed closure of the anterior fontanelle	HP:0040284	ORPHA:231140
283120	H19	HP:0000150	Gonadoblastoma	-	OMIM:130650
283120	H19	HP:0008947	Floppy infant	HP:0040283	ORPHA:231144
283120	H19	HP:0006277	Pancreatic hyperplasia	-	OMIM:130650
283120	H19	HP:0000121	Nephrocalcinosis	-	OMIM:130650
283120	H19	HP:0001442	Typified by somatic mosaicism	-	OMIM:194070
283120	H19	HP:0000105	Enlarged kidney	-	OMIM:130650
283120	H19	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:231140
283120	H19	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:231144
283120	H19	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:654
283120	H19	HP:0002027	Abdominal pain	HP:0040282	ORPHA:654
283120	H19	HP:0100526	Neoplasm of the lung	HP:0040283	ORPHA:654
283120	H19	HP:0011800	Midface retrusion	HP:0040283	ORPHA:231144
283120	H19	HP:0011800	Midface retrusion	-	OMIM:130650
283120	H19	HP:0002094	Dyspnea	HP:0040284	ORPHA:654
283120	H19	HP:0100560	Upper limb asymmetry	HP:0040282	ORPHA:231140
283120	H19	HP:0100555	Asymmetric growth	HP:0040281	ORPHA:231140
283120	H19	HP:0100559	Lower limb asymmetry	HP:0040282	ORPHA:231140
283120	H19	HP:0003388	Easy fatigability	36/76	OMIM:131300
283120	H19	HP:0010442	Polydactyly	HP:0040283	ORPHA:231140
283120	H19	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
283120	H19	HP:0008186	Adrenocortical cytomegaly	-	OMIM:130650
283120	H19	HP:0002240	Hepatomegaly	-	OMIM:130650
283120	H19	HP:0008330	Reduced von Willebrand factor activity	HP:0040283	ORPHA:654
283120	H19	HP:0003510	Severe short stature	7/7	OMIM:615777
283120	H19	HP:0001052	Nevus flammeus	-	OMIM:130650
283120	H19	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:231140
283120	H19	HP:0002315	Headache	-	OMIM:131300
283120	H19	HP:0004976	Knee dislocation	6/7	OMIM:615777
283120	H19	HP:0008523	Posterior helix pit	-	OMIM:130650
283120	H19	HP:0009803	Short phalanx of finger	-	OMIM:615777
283120	H19	HP:0032165	Placental mesenchymal dysplasia	-	OMIM:130650
283120	H19	HP:0009763	Limb pain	63/92	OMIM:131300
283120	H19	HP:0003621	Juvenile onset	-	OMIM:131300
283120	H19	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
283120	H19	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:231140
283120	H19	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:231144
283120	H19	HP:0005580	Duplication of renal pelvis	HP:0040282	ORPHA:654
283120	H19	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
283120	H19	HP:6001056	Out-toeing	-	OMIM:131300
283120	H19	HP:0000651	Diplopia	-	OMIM:131300
283120	H19	HP:0001943	Hypoglycemia	HP:0040283	ORPHA:231140
283120	H19	HP:0001945	Fever	HP:0040283	ORPHA:654
283120	H19	HP:0001956	Truncal obesity	2/7	OMIM:615777
283120	H19	HP:0001903	Anemia	HP:0040283	ORPHA:654
283120	H19	HP:0001903	Anemia	HP:0040283	OMIM:131300
283120	H19	HP:0001901	Polycythemia	HP:0040283	ORPHA:654
283120	H19	HP:0010049	Short metacarpal	-	OMIM:615777
283120	H19	HP:0000678	Dental crowding	HP:0040282	ORPHA:231140
283120	H19	HP:0000678	Dental crowding	-	OMIM:615777
283120	H19	HP:0000670	Carious teeth	-	OMIM:131300
283120	H19	HP:0011304	Broad thumb	2/7	OMIM:615777
283120	H19	HP:0000668	Hypodontia	-	OMIM:615777
283120	H19	HP:0001998	Neonatal hypoglycemia	-	OMIM:130650
283120	H19	HP:0001998	Neonatal hypoglycemia	HP:0040283	ORPHA:231140
283120	H19	HP:0000664	Synophrys	-	OMIM:615777
283120	H19	HP:0004325	Decreased body weight	HP:0040282	ORPHA:231140
283120	H19	HP:0004322	Short stature	HP:0040281	ORPHA:231140
283120	H19	HP:0004322	Short stature	HP:0040282	ORPHA:231144
283120	H19	HP:0005616	Accelerated skeletal maturation	-	OMIM:130650
283120	H19	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2128
283120	H19	HP:0003072	Hypercalcemia	HP:0040283	ORPHA:654
283120	H19	HP:0000803	Renal cortical cysts	-	OMIM:130650
283120	H19	HP:0004396	Poor appetite	-	OMIM:131300
283120	H19	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
283120	H19	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
283120	H19	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
283120	H19	HP:0003026	Short long bone	7/7	OMIM:615777
283120	H19	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
283120	H19	HP:0000767	Pectus excavatum	2/7	OMIM:615777
283120	H19	HP:0000768	Pectus carinatum	1/7	OMIM:615777
283120	H19	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
283120	H19	HP:0000750	Delayed speech and language development	-	OMIM:615777
283120	H19	HP:0011461	Fetal onset	7/7	OMIM:615777
283120	H19	HP:0000774	Narrow chest	2/7	OMIM:615777
283120	H19	HP:0000787	Nephrolithiasis	-	OMIM:130650
283120	H19	HP:0000926	Platyspondyly	1/7	OMIM:615777
283120	H19	HP:0003180	Flat acetabular roof	-	OMIM:615777
283120	H19	HP:0004482	Relative macrocephaly	HP:0040282	ORPHA:231140
283120	H19	HP:0004482	Relative macrocephaly	HP:0040283	ORPHA:231144
283120	H19	HP:0004482	Relative macrocephaly	-	OMIM:615777
283120	H19	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
283120	H19	HP:0012871	Varicocele	HP:0040283	ORPHA:654
283120	H19	HP:0000811	Abnormal external genitalia morphology	HP:0040283	ORPHA:231140
283120	H19	HP:0000822	Hypertension	HP:0040283	ORPHA:654
283120	H19	HP:0000823	Delayed puberty	-	OMIM:131300
283120	H19	HP:0000894	Short clavicles	-	OMIM:615777
283120	H19	HP:0003247	Overgrowth of external genitalia	-	OMIM:130650
283120	H19	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
283120	H19	HP:0000975	Hyperhidrosis	HP:0040284	ORPHA:231140
283120	H19	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
283120	H19	HP:0000286	Epicanthus	1/7	OMIM:615777
283120	H19	HP:0000280	Coarse facial features	-	OMIM:130650
283120	H19	HP:0000280	Coarse facial features	2/7	OMIM:615777
283120	H19	HP:0000269	Prominent occiput	-	OMIM:130650
283120	H19	HP:0002827	Hip dislocation	3/7	OMIM:615777
283120	H19	HP:0000239	Large fontanelles	-	OMIM:130650
283120	H19	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:654
283120	H19	HP:0000252	Microcephaly	-	OMIM:615777
283120	H19	HP:0002884	Hepatoblastoma	-	OMIM:130650
283120	H19	HP:0001548	Overgrowth	-	OMIM:130650
283120	H19	HP:0000218	High palate	HP:0040282	ORPHA:231140
283120	H19	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:231144
283120	H19	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:231144
283120	H19	HP:0001555	Asymmetry of the thorax	HP:0040281	ORPHA:2128
283120	H19	HP:0001528	Hemihypertrophy	-	OMIM:130650
283120	H19	HP:0001528	Hemihypertrophy	HP:0040283	ORPHA:654
283120	H19	HP:0001528	Hemihypertrophy	HP:0040281	ORPHA:2128
283120	H19	HP:0002857	Genu valgum	-	OMIM:131300
283120	H19	HP:0001540	Diastasis recti	-	OMIM:130650
283120	H19	HP:0001540	Diastasis recti	HP:0040283	ORPHA:231140
283120	H19	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:231144
283120	H19	HP:0001539	Omphalocele	-	OMIM:130650
283120	H19	HP:0001533	Slender build	-	OMIM:131300
283120	H19	HP:0001508	Failure to thrive	HP:0040282	ORPHA:231144
283120	H19	HP:0001518	Small for gestational age	HP:0040281	ORPHA:231140
283120	H19	HP:0001518	Small for gestational age	HP:0040282	ORPHA:231144
283120	H19	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:231144
283120	H19	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
283120	H19	HP:0007807	Optic nerve compression	-	OMIM:131300
283120	H19	HP:0031500	Abdominal mass	HP:0040281	ORPHA:654
283120	H19	HP:0012368	Flat face	7/7	OMIM:615777
283120	H19	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
283120	H19	HP:0002907	Microscopic hematuria	HP:0040283	ORPHA:654
283120	H19	HP:0000365	Hearing impairment	10/67	OMIM:131300
283120	H19	HP:0000343	Long philtrum	1/7	OMIM:615777
283120	H19	HP:0011001	Increased bone mineral density	-	OMIM:131300
283120	H19	HP:0000311	Round face	2/7	OMIM:615777
283120	H19	HP:0000331	Short chin	HP:0040281	ORPHA:231140
283120	H19	HP:0000325	Triangular face	HP:0040281	ORPHA:231140
283120	H19	HP:0000325	Triangular face	HP:0040282	ORPHA:231144
283120	H19	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:231144
283120	H19	HP:0000324	Facial asymmetry	HP:0040282	ORPHA:2128
283120	H19	HP:0001640	Cardiomegaly	-	OMIM:130650
283120	H19	HP:0002970	Genu varum	-	OMIM:615777
283120	H19	HP:0001638	Cardiomyopathy	-	OMIM:130650
283120	H19	HP:0000303	Mandibular prognathia	-	OMIM:131300
283120	H19	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
283120	H19	HP:0000470	Short neck	1/7	OMIM:615777
283120	H19	HP:0001769	Broad foot	HP:0040283	OMIM:615777
283120	H19	HP:0001763	Pes planus	1/7	OMIM:615777
283120	H19	HP:0000411	Protruding ear	HP:0040282	ORPHA:231140
283120	H19	HP:0006744	Adrenocortical carcinoma	-	OMIM:130650
283120	H19	HP:0005487	Prominent metopic ridge	-	OMIM:130650
283120	H19	HP:0001840	Metatarsus adductus	-	OMIM:615777
283120	H19	HP:0000526	Aniridia	HP:0040283	ORPHA:654
283120	H19	HP:0000520	Proptosis	2/4	OMIM:131300
283120	H19	HP:0000520	Proptosis	-	OMIM:130650
283120	H19	HP:0000520	Proptosis	7/7	OMIM:615777
283120	H19	HP:0001824	Weight loss	HP:0040283	ORPHA:654
283120	H19	HP:0012587	Macroscopic hematuria	HP:0040282	ORPHA:654
283120	H19	HP:0000592	Blue sclerae	2/7	OMIM:615777
283120	H19	HP:0011220	Prominent forehead	HP:0040282	ORPHA:231140
283120	H19	HP:0011220	Prominent forehead	HP:0040283	ORPHA:231144
283120	H19	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
283120	H19	HP:0012514	Lower limb pain	4/4	OMIM:131300
283209	PGM2L1	HP:0008593	Prominent antitragus	1/4	OMIM:620191
283209	PGM2L1	HP:0001250	Seizure	2/4	OMIM:620191
283209	PGM2L1	HP:0001252	Hypotonia	3/4	OMIM:620191
283209	PGM2L1	HP:0001251	Ataxia	2/4	OMIM:620191
283209	PGM2L1	HP:0001249	Intellectual disability	3/3	OMIM:620191
283209	PGM2L1	HP:0001263	Global developmental delay	4/4	OMIM:620191
283209	PGM2L1	HP:0012071	Abnormal circulating acylcarnitine concentration	0/4	OMIM:620191
283209	PGM2L1	HP:0001382	Joint hypermobility	2/4	OMIM:620191
283209	PGM2L1	HP:0006191	Deep palmar crease	1/4	OMIM:620191
283209	PGM2L1	HP:0001324	Muscle weakness	2/4	OMIM:620191
283209	PGM2L1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620191
283209	PGM2L1	HP:0004780	Elbow hypertrichosis	1/4	OMIM:620191
283209	PGM2L1	HP:0002133	Status epilepticus	1/4	OMIM:620191
283209	PGM2L1	HP:0011856	Pica	1/4	OMIM:620191
283209	PGM2L1	HP:0003593	Infantile onset	4/4	OMIM:620191
283209	PGM2L1	HP:0009748	Large earlobe	3/4	OMIM:620191
283209	PGM2L1	HP:0010801	Underdeveloped nasolabial fold	1/4	OMIM:620191
283209	PGM2L1	HP:0032152	Keratosis pilaris	3/4	OMIM:620191
283209	PGM2L1	HP:0001992	Organic aciduria	0/4	OMIM:620191
283209	PGM2L1	HP:0000670	Carious teeth	2/4	OMIM:620191
283209	PGM2L1	HP:0031936	Delayed ability to walk	3/4	OMIM:620191
283209	PGM2L1	HP:0000750	Delayed speech and language development	4/4	OMIM:620191
283209	PGM2L1	HP:0000718	Aggressive behavior	1/4	OMIM:620191
283209	PGM2L1	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0/3	OMIM:620191
283209	PGM2L1	HP:0000958	Dry skin	4/4	OMIM:620191
283209	PGM2L1	HP:0000964	Eczematoid dermatitis	1/4	OMIM:620191
283209	PGM2L1	HP:0000286	Epicanthus	1/4	OMIM:620191
283209	PGM2L1	HP:0000219	Thin upper lip vermilion	2/4	OMIM:620191
283209	PGM2L1	HP:0000218	High palate	6/8	OMIM:620191
283209	PGM2L1	HP:0001513	Obesity	3/4	OMIM:620191
283209	PGM2L1	HP:0000396	Overfolded helix	2/8	OMIM:620191
283209	PGM2L1	HP:0000343	Long philtrum	1/4	OMIM:620191
283209	PGM2L1	HP:0000319	Smooth philtrum	1/4	OMIM:620191
283209	PGM2L1	HP:0000307	Pointed chin	2/4	OMIM:620191
283209	PGM2L1	HP:0005274	Prominent nasal tip	1/4	OMIM:620191
283209	PGM2L1	HP:0005280	Depressed nasal bridge	2/4	OMIM:620191
283209	PGM2L1	HP:0000494	Downslanted palpebral fissures	2/4	OMIM:620191
283209	PGM2L1	HP:0000448	Prominent nose	1/4	OMIM:620191
283209	PGM2L1	HP:0000414	Bulbous nose	1/4	OMIM:620191
283209	PGM2L1	HP:0000411	Protruding ear	2/4	OMIM:620191
283209	PGM2L1	HP:0000527	Long eyelashes	1/4	OMIM:620191
283209	PGM2L1	HP:0000577	Exotropia	4/4	OMIM:620191
283209	PGM2L1	HP:0000540	Hypermetropia	1/4	OMIM:620191
283310	OTOGL	HP:0000007	Autosomal recessive inheritance	-	OMIM:614944
283310	OTOGL	HP:0003577	Congenital onset	3/3	OMIM:614944
283310	OTOGL	HP:0000407	Sensorineural hearing impairment	7/7	OMIM:614944
283310	OTOGL	HP:0001756	Vestibular hyporeflexia	1/7	OMIM:614944
283375	SLC39A5	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
283375	SLC39A5	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
283375	SLC39A5	HP:0000006	Autosomal dominant inheritance	-	OMIM:615946
283375	SLC39A5	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
283375	SLC39A5	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
283375	SLC39A5	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
283375	SLC39A5	HP:0003621	Juvenile onset	8/19	OMIM:180100
283375	SLC39A5	HP:0003621	Juvenile onset	5/5	OMIM:615946
283375	SLC39A5	HP:0000662	Nyctalopia	26/28	OMIM:180100
283375	SLC39A5	HP:0011463	Childhood onset	3/19	OMIM:180100
283375	SLC39A5	HP:0011462	Young adult onset	8/19	OMIM:180100
283375	SLC39A5	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
283375	SLC39A5	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
283375	SLC39A5	HP:0011003	High myopia	5/5	OMIM:615946
283375	SLC39A5	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
283375	SLC39A5	HP:0000575	Scotoma	5/18	OMIM:180100
283375	SLC39A5	HP:0000543	Optic disc pallor	1/1	OMIM:180100
283375	SLC39A5	HP:0000545	Myopia	-	OMIM:180100
283417	DPY19L2	HP:0000007	Autosomal recessive inheritance	-	OMIM:613958
283417	DPY19L2	HP:0011462	Young adult onset	7/7	OMIM:613958
283417	DPY19L2	HP:0003251	Male infertility	7/7	OMIM:613958
283417	DPY19L2	HP:0012205	Globozoospermia	7/7	OMIM:613958
283446	MYO1H	HP:0001288	Gait disturbance	2/2	OMIM:619482
283446	MYO1H	HP:0001284	Areflexia	1/3	OMIM:619482
283446	MYO1H	HP:0001250	Seizure	HP:0040283	ORPHA:661
283446	MYO1H	HP:0001250	Seizure	2/3	OMIM:619482
283446	MYO1H	HP:0001252	Hypotonia	HP:0040283	ORPHA:661
283446	MYO1H	HP:0001252	Hypotonia	1/3	OMIM:619482
283446	MYO1H	HP:0001263	Global developmental delay	2/2	OMIM:619482
283446	MYO1H	HP:0002571	Achalasia	3/3	OMIM:619482
283446	MYO1H	HP:0000020	Urinary incontinence	1/3	OMIM:619482
283446	MYO1H	HP:0000007	Autosomal recessive inheritance	-	OMIM:619482
283446	MYO1H	HP:0002650	Scoliosis	1/3	OMIM:619482
283446	MYO1H	HP:0002791	Hypoventilation	3/3	OMIM:619482
283446	MYO1H	HP:0002020	Gastroesophageal reflux	1/3	OMIM:619482
283446	MYO1H	HP:0002015	Dysphagia	3/3	OMIM:619482
283446	MYO1H	HP:0005968	Temperature instability	1/3	OMIM:619482
283446	MYO1H	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:661
283446	MYO1H	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:661
283446	MYO1H	HP:0002091	Restrictive ventilatory defect	1/3	OMIM:619482
283446	MYO1H	HP:0002104	Apnea	3/3	OMIM:619482
283446	MYO1H	HP:0002270	Abnormality of the autonomic nervous system	HP:0040281	ORPHA:661
283446	MYO1H	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:661
283446	MYO1H	HP:0011968	Feeding difficulties	3/3	OMIM:619482
283446	MYO1H	HP:0011951	Aspiration pneumonia	1/3	OMIM:619482
283446	MYO1H	HP:0003623	Neonatal onset	3/3	OMIM:619482
283446	MYO1H	HP:0031857	Ineffective esophageal peristalsis	3/3	OMIM:619482
283446	MYO1H	HP:0003005	Ganglioneuroma	HP:0040283	ORPHA:661
283446	MYO1H	HP:0003006	Neuroblastoma	HP:0040283	ORPHA:661
283446	MYO1H	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:661
283446	MYO1H	HP:0011471	Gastrostomy tube feeding in infancy	3/3	OMIM:619482
283446	MYO1H	HP:0012850	Small intestinal dysmotility	3/3	OMIM:619482
283446	MYO1H	HP:0040213	Hypopnea	3/3	OMIM:619482
283446	MYO1H	HP:0002808	Kyphosis	1/3	OMIM:619482
283446	MYO1H	HP:0001688	Sinus bradycardia	1/3	OMIM:619482
283446	MYO1H	HP:0000483	Astigmatism	1/3	OMIM:619482
283446	MYO1H	HP:0000486	Strabismus	1/3	OMIM:619482
283446	MYO1H	HP:0012450	Chronic constipation	3/3	OMIM:619482
283446	MYO1H	HP:0006747	Ganglioneuroblastoma	HP:0040283	ORPHA:661
283446	MYO1H	HP:0000545	Myopia	1/3	OMIM:619482
283450	HECTD4	HP:0001182	Tapered finger	1/7	OMIM:620250
283450	HECTD4	HP:0008551	Microtia	1/7	OMIM:620250
283450	HECTD4	HP:0001274	Agenesis of corpus callosum	3/7	OMIM:620250
283450	HECTD4	HP:0001270	Motor delay	6/6	OMIM:620250
283450	HECTD4	HP:0001250	Seizure	7/7	OMIM:620250
283450	HECTD4	HP:0001252	Hypotonia	4/7	OMIM:620250
283450	HECTD4	HP:0001249	Intellectual disability	7/7	OMIM:620250
283450	HECTD4	HP:0001263	Global developmental delay	4/4	OMIM:620250
283450	HECTD4	HP:0001347	Hyperreflexia	3/7	OMIM:620250
283450	HECTD4	HP:0001338	Partial agenesis of the corpus callosum	2/7	OMIM:620250
283450	HECTD4	HP:0000007	Autosomal recessive inheritance	-	OMIM:620250
283450	HECTD4	HP:0002650	Scoliosis	1/7	OMIM:620250
283450	HECTD4	HP:0000189	Narrow palate	1/7	OMIM:620250
283450	HECTD4	HP:0000160	Narrow mouth	1/7	OMIM:620250
283450	HECTD4	HP:0000154	Wide mouth	1/7	OMIM:620250
283450	HECTD4	HP:0002020	Gastroesophageal reflux	1/7	OMIM:620250
283450	HECTD4	HP:0002007	Frontal bossing	2/7	OMIM:620250
283450	HECTD4	HP:0002186	Apraxia	1/7	OMIM:620250
283450	HECTD4	HP:0003593	Infantile onset	2/7	OMIM:620250
283450	HECTD4	HP:0003577	Congenital onset	2/7	OMIM:620250
283450	HECTD4	HP:0002213	Fine hair	1/7	OMIM:620250
283450	HECTD4	HP:0000685	Hypoplasia of teeth	1/7	OMIM:620250
283450	HECTD4	HP:0000657	Oculomotor apraxia	1/7	OMIM:620250
283450	HECTD4	HP:0000668	Hypodontia	3/7	OMIM:620250
283450	HECTD4	HP:0000664	Synophrys	1/7	OMIM:620250
283450	HECTD4	HP:0000739	Anxiety	1/7	OMIM:620250
283450	HECTD4	HP:0000718	Aggressive behavior	4/7	OMIM:620250
283450	HECTD4	HP:0000717	Autism	1/7	OMIM:620250
283450	HECTD4	HP:0011463	Childhood onset	3/7	OMIM:620250
283450	HECTD4	HP:0003196	Short nose	1/7	OMIM:620250
283450	HECTD4	HP:0034353	Appendicular spasticity	2/7	OMIM:620250
283450	HECTD4	HP:0000278	Retrognathia	2/7	OMIM:620250
283450	HECTD4	HP:0000256	Macrocephaly	5/7	OMIM:620250
283450	HECTD4	HP:0000275	Narrow face	1/7	OMIM:620250
283450	HECTD4	HP:0001548	Overgrowth	1/7	OMIM:620250
283450	HECTD4	HP:0001513	Obesity	1/7	OMIM:620250
283450	HECTD4	HP:0002942	Thoracic kyphosis	1/7	OMIM:620250
283450	HECTD4	HP:0000365	Hearing impairment	2/7	OMIM:620250
283450	HECTD4	HP:0000343	Long philtrum	2/7	OMIM:620250
283450	HECTD4	HP:0000337	Broad forehead	1/7	OMIM:620250
283450	HECTD4	HP:0000347	Micrognathia	1/7	OMIM:620250
283450	HECTD4	HP:0000316	Hypertelorism	2/7	OMIM:620250
283450	HECTD4	HP:0000322	Short philtrum	1/7	OMIM:620250
283450	HECTD4	HP:0000400	Macrotia	2/7	OMIM:620250
283450	HECTD4	HP:0012471	Thick vermilion border	1/7	OMIM:620250
283450	HECTD4	HP:0000494	Downslanted palpebral fissures	1/7	OMIM:620250
283450	HECTD4	HP:0000470	Short neck	1/7	OMIM:620250
283450	HECTD4	HP:0000431	Wide nasal bridge	1/7	OMIM:620250
283450	HECTD4	HP:0000527	Long eyelashes	1/7	OMIM:620250
283450	HECTD4	HP:0000520	Proptosis	1/7	OMIM:620250
283450	HECTD4	HP:0000582	Upslanted palpebral fissure	1/7	OMIM:620250
283450	HECTD4	HP:0000592	Blue sclerae	1/7	OMIM:620250
283450	HECTD4	HP:0011220	Prominent forehead	1/7	OMIM:620250
283459	GATC	HP:0003811	Neonatal death	3/9	OMIM:618839
283459	GATC	HP:0000007	Autosomal recessive inheritance	-	OMIM:618839
283459	GATC	HP:0001410	Decreased liver function	5/9	OMIM:618839
283459	GATC	HP:0008163	Decreased circulating cortisol level	1/2	OMIM:618839
283459	GATC	HP:0011924	Decreased activity of mitochondrial complex III	-	OMIM:618839
283459	GATC	HP:0011923	Decreased activity of mitochondrial complex I	-	OMIM:618839
283459	GATC	HP:0008347	Decreased activity of mitochondrial complex IV	-	OMIM:618839
283459	GATC	HP:0001943	Hypoglycemia	2/9	OMIM:618839
283459	GATC	HP:0001903	Anemia	7/7	OMIM:618839
283459	GATC	HP:0003128	Lactic acidosis	9/9	OMIM:618839
283459	GATC	HP:0003236	Elevated circulating creatine kinase concentration	5/9	OMIM:618839
283459	GATC	HP:0001522	Death in infancy	6/9	OMIM:618839
283459	GATC	HP:0001511	Intrauterine growth retardation	2/9	OMIM:618839
283459	GATC	HP:0000365	Hearing impairment	1/1	OMIM:618839
283459	GATC	HP:0001622	Premature birth	2/9	OMIM:618839
283459	GATC	HP:0001638	Cardiomyopathy	9/9	OMIM:618839
283459	GATC	HP:0001790	Nonimmune hydrops fetalis	3/9	OMIM:618839
283489	CHAMP1	HP:0007328	Impaired pain sensation	4/5	OMIM:616579
283489	CHAMP1	HP:0001270	Motor delay	5/5	OMIM:616579
283489	CHAMP1	HP:0001252	Hypotonia	5/5	OMIM:616579
283489	CHAMP1	HP:0001249	Intellectual disability	6/6	OMIM:616579
283489	CHAMP1	HP:0001260	Dysarthria	3/5	OMIM:616579
283489	CHAMP1	HP:0001263	Global developmental delay	1/1	OMIM:616579
283489	CHAMP1	HP:0002558	Supernumerary nipple	1/2	OMIM:616579
283489	CHAMP1	HP:0001382	Joint hypermobility	3/7	OMIM:616579
283489	CHAMP1	HP:0001357	Plagiocephaly	1/2	OMIM:616579
283489	CHAMP1	HP:0001344	Absent speech	2/5	OMIM:616579
283489	CHAMP1	HP:0000006	Autosomal dominant inheritance	-	OMIM:616579
283489	CHAMP1	HP:0000194	Open mouth	4/5	OMIM:616579
283489	CHAMP1	HP:0002020	Gastroesophageal reflux	2/5	OMIM:616579
283489	CHAMP1	HP:0002066	Gait ataxia	-	OMIM:616579
283489	CHAMP1	HP:0002188	Delayed CNS myelination	1/5	OMIM:616579
283489	CHAMP1	HP:0003593	Infantile onset	1/5	OMIM:616579
283489	CHAMP1	HP:0003577	Congenital onset	-	OMIM:616579
283489	CHAMP1	HP:0002205	Recurrent respiratory infections	3/5	OMIM:616579
283489	CHAMP1	HP:0011968	Feeding difficulties	4/5	OMIM:616579
283489	CHAMP1	HP:0010804	Tented upper lip vermilion	5/5	OMIM:616579
283489	CHAMP1	HP:0003623	Neonatal onset	4/5	OMIM:616579
283489	CHAMP1	HP:0002311	Incoordination	1/2	OMIM:616579
283489	CHAMP1	HP:0002307	Drooling	4/5	OMIM:616579
283489	CHAMP1	HP:0031936	Delayed ability to walk	5/5	OMIM:616579
283489	CHAMP1	HP:0100025	Overfriendliness	5/5	OMIM:616579
283489	CHAMP1	HP:0000733	Motor stereotypy	3/5	OMIM:616579
283489	CHAMP1	HP:0000750	Delayed speech and language development	5/5	OMIM:616579
283489	CHAMP1	HP:0000286	Epicanthus	3/5	OMIM:616579
283489	CHAMP1	HP:0000297	Facial hypotonia	4/5	OMIM:616579
283489	CHAMP1	HP:0000276	Long face	3/5	OMIM:616579
283489	CHAMP1	HP:0000252	Microcephaly	2/5	OMIM:616579
283489	CHAMP1	HP:0000219	Thin upper lip vermilion	4/5	OMIM:616579
283489	CHAMP1	HP:0000218	High palate	4/4	OMIM:616579
283489	CHAMP1	HP:0000232	Everted lower lip vermilion	5/5	OMIM:616579
283489	CHAMP1	HP:0001540	Diastasis recti	1/2	OMIM:616579
283489	CHAMP1	HP:0002870	Obstructive sleep apnea	1/2	OMIM:616579
283489	CHAMP1	HP:0001537	Umbilical hernia	2/5	OMIM:616579
283489	CHAMP1	HP:0000369	Low-set ears	3/5	OMIM:616579
283489	CHAMP1	HP:0000322	Short philtrum	5/5	OMIM:616579
283489	CHAMP1	HP:0000307	Pointed chin	3/5	OMIM:616579
283489	CHAMP1	HP:0000486	Strabismus	2/5	OMIM:616579
283489	CHAMP1	HP:0012444	Brain atrophy	1/5	OMIM:616579
283489	CHAMP1	HP:0000582	Upslanted palpebral fissure	3/5	OMIM:616579
283489	CHAMP1	HP:0000540	Hypermetropia	4/4	OMIM:616579
283652	SLC24A5	HP:0007513	Generalized hypopigmentation	1/1	OMIM:113750
283652	SLC24A5	HP:0000007	Autosomal recessive inheritance	-	OMIM:113750
283652	SLC24A5	HP:0007663	Reduced visual acuity	1/1	OMIM:113750
283652	SLC24A5	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:370097
283652	SLC24A5	HP:0002286	Fair hair	1/1	OMIM:113750
283652	SLC24A5	HP:0001098	Abnormal fundus morphology	HP:0040281	ORPHA:370097
283652	SLC24A5	HP:0000639	Nystagmus	1/1	OMIM:113750
283652	SLC24A5	HP:0000639	Nystagmus	HP:0040281	ORPHA:370097
283652	SLC24A5	HP:0000613	Photophobia	1/1	OMIM:113750
283652	SLC24A5	HP:0000613	Photophobia	HP:0040281	ORPHA:370097
283652	SLC24A5	HP:0030613	Abnormal foveal morphology on macular OCT	HP:0040281	ORPHA:370097
283652	SLC24A5	HP:0008059	Aplasia/Hypoplasia of the macula	HP:0040281	ORPHA:370097
283652	SLC24A5	HP:0008034	Abnormal iris pigmentation	HP:0040281	ORPHA:370097
283652	SLC24A5	HP:0007750	Hypoplasia of the fovea	1/1	OMIM:113750
283652	SLC24A5	HP:0000505	Visual impairment	1/1	OMIM:113750
283677	REC114	HP:0033712	Repeated implantation failure	2/2	OMIM:619176
283677	REC114	HP:0000007	Autosomal recessive inheritance	-	OMIM:619176
283677	REC114	HP:0008222	Female infertility	2/2	OMIM:619176
283677	REC114	HP:0003581	Adult onset	-	OMIM:619176
283677	REC114	HP:4000008	Formation of multiple pronuclei during fertilization	2/2	OMIM:619176
283677	REC114	HP:0005268	Miscarriage	1/2	OMIM:619176
283847	TERB1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
283847	TERB1	HP:0031038	Spermatogenesis maturation arrest	3/3	OMIM:619646
283847	TERB1	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
283847	TERB1	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
283847	TERB1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619646
283847	TERB1	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
283847	TERB1	HP:0011961	Non-obstructive azoospermia	4/4	OMIM:619646
283847	TERB1	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
283847	TERB1	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
283847	TERB1	HP:0011462	Young adult onset	2/2	OMIM:619646
283847	TERB1	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
283847	TERB1	HP:0003251	Male infertility	4/4	OMIM:619646
283987	HID1	HP:0001270	Motor delay	7/7	OMIM:619983
283987	HID1	HP:0001252	Hypotonia	6/7	OMIM:619983
283987	HID1	HP:0001257	Spasticity	3/6	OMIM:619983
283987	HID1	HP:0002521	Hypsarrhythmia	2/7	OMIM:619983
283987	HID1	HP:0000054	Micropenis	2/3	OMIM:619983
283987	HID1	HP:0033725	Thin corpus callosum	6/7	OMIM:619983
283987	HID1	HP:0001344	Absent speech	6/6	OMIM:619983
283987	HID1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619983
283987	HID1	HP:0002069	Bilateral tonic-clonic seizure	6/7	OMIM:619983
283987	HID1	HP:0008245	Pituitary hypothyroidism	7/7	OMIM:619983
283987	HID1	HP:0003593	Infantile onset	-	OMIM:619983
283987	HID1	HP:0010627	Anterior pituitary hypoplasia	6/7	OMIM:619983
283987	HID1	HP:0002384	Focal impaired awareness seizure	4/7	OMIM:619983
283987	HID1	HP:0010845	EEG with generalized slow activity	6/7	OMIM:619983
283987	HID1	HP:0003623	Neonatal onset	-	OMIM:619983
283987	HID1	HP:0000639	Nystagmus	2/6	OMIM:619983
283987	HID1	HP:0000664	Synophrys	6/6	OMIM:619983
283987	HID1	HP:0000998	Hypertrichosis	2/5	OMIM:619983
283987	HID1	HP:0032792	Tonic seizure	3/7	OMIM:619983
283987	HID1	HP:0032794	Myoclonic seizure	4/7	OMIM:619983
283987	HID1	HP:0000316	Hypertelorism	3/6	OMIM:619983
283987	HID1	HP:0011195	EEG with focal sharp slow waves	6/7	OMIM:619983
283987	HID1	HP:0000486	Strabismus	1/7	OMIM:619983
283987	HID1	HP:0012444	Brain atrophy	4/7	OMIM:619983
283987	HID1	HP:0000527	Long eyelashes	5/6	OMIM:619983
283987	HID1	HP:0000556	Retinal dystrophy	1/7	OMIM:619983
283989	TSEN54	HP:0007308	Extrapyramidal dyskinesia	-	OMIM:277470
283989	TSEN54	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040283	ORPHA:2524
283989	TSEN54	HP:0001276	Hypertonia	HP:0040282	ORPHA:166063
283989	TSEN54	HP:0001276	Hypertonia	4/4	OMIM:225753
283989	TSEN54	HP:0001270	Motor delay	HP:0040282	ORPHA:2524
283989	TSEN54	HP:0001250	Seizure	1/1	OMIM:225753
283989	TSEN54	HP:0001250	Seizure	-	OMIM:610204
283989	TSEN54	HP:0001250	Seizure	HP:0040281	ORPHA:2524
283989	TSEN54	HP:0001250	Seizure	HP:0040282	ORPHA:166063
283989	TSEN54	HP:0001250	Seizure	-	OMIM:277470
283989	TSEN54	HP:0001266	Choreoathetosis	HP:0040281	ORPHA:2524
283989	TSEN54	HP:0001257	Spasticity	-	OMIM:225753
283989	TSEN54	HP:0001257	Spasticity	HP:0040283	ORPHA:2524
283989	TSEN54	HP:0002536	Abnormal cortical gyration	HP:0040283	ORPHA:2524
283989	TSEN54	HP:0002518	Abnormal periventricular white matter morphology	-	OMIM:277470
283989	TSEN54	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:277470
283989	TSEN54	HP:0003819	Death in childhood	HP:0040283	OMIM:277470
283989	TSEN54	HP:0008872	Feeding difficulties in infancy	-	OMIM:277470
283989	TSEN54	HP:0031162	Impaired oropharyngeal swallow response	HP:0040281	ORPHA:2524
283989	TSEN54	HP:0001332	Dystonia	31/34	OMIM:277470
283989	TSEN54	HP:0000007	Autosomal recessive inheritance	-	OMIM:610204
283989	TSEN54	HP:0000007	Autosomal recessive inheritance	-	OMIM:277470
283989	TSEN54	HP:0000007	Autosomal recessive inheritance	-	OMIM:225753
283989	TSEN54	HP:0001336	Myoclonus	HP:0040282	ORPHA:166063
283989	TSEN54	HP:0001336	Myoclonus	3/3	OMIM:225753
283989	TSEN54	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:2524
283989	TSEN54	HP:0001321	Cerebellar hypoplasia	-	OMIM:277470
283989	TSEN54	HP:0001321	Cerebellar hypoplasia	11/11	OMIM:225753
283989	TSEN54	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:2524
283989	TSEN54	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:2524
283989	TSEN54	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:2524
283989	TSEN54	HP:0007598	Bilateral single transverse palmar creases	HP:0040283	ORPHA:2524
283989	TSEN54	HP:0012110	Hypoplasia of the pons	1/1	OMIM:225753
283989	TSEN54	HP:0012110	Hypoplasia of the pons	-	OMIM:277470
283989	TSEN54	HP:0002719	Recurrent infections	HP:0040282	ORPHA:2524
283989	TSEN54	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2524
283989	TSEN54	HP:0002033	Poor suck	HP:0040282	ORPHA:2524
283989	TSEN54	HP:0002033	Poor suck	-	OMIM:277470
283989	TSEN54	HP:0002015	Dysphagia	4/4	OMIM:225753
283989	TSEN54	HP:0002015	Dysphagia	30/32	OMIM:277470
283989	TSEN54	HP:0011800	Midface retrusion	HP:0040283	ORPHA:166063
283989	TSEN54	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2524
283989	TSEN54	HP:0002072	Chorea	31/34	OMIM:277470
283989	TSEN54	HP:0003487	Babinski sign	HP:0040283	ORPHA:2524
283989	TSEN54	HP:0002123	Generalized myoclonic seizure	HP:0040281	ORPHA:2524
283989	TSEN54	HP:0002120	Cerebral cortical atrophy	HP:0040283	OMIM:277470
283989	TSEN54	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:2524
283989	TSEN54	HP:0002104	Apnea	HP:0040282	ORPHA:2524
283989	TSEN54	HP:0002179	Opisthotonus	-	OMIM:277470
283989	TSEN54	HP:0002171	Gliosis	1/1	OMIM:225753
283989	TSEN54	HP:0002171	Gliosis	-	OMIM:277470
283989	TSEN54	HP:0002268	Paroxysmal dystonia	HP:0040282	ORPHA:2524
283989	TSEN54	HP:0003577	Congenital onset	4/4	OMIM:225753
283989	TSEN54	HP:0003577	Congenital onset	-	OMIM:610204
283989	TSEN54	HP:0003577	Congenital onset	-	OMIM:277470
283989	TSEN54	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:2524
283989	TSEN54	HP:0003558	Viral infection-induced rhabdomyolysis	HP:0040283	ORPHA:2524
283989	TSEN54	HP:0004887	Respiratory failure requiring assisted ventilation	HP:0040282	ORPHA:166063
283989	TSEN54	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:2524
283989	TSEN54	HP:0007001	Loss of Purkinje cells in the cerebellar vermis	1/1	OMIM:225753
283989	TSEN54	HP:0011968	Feeding difficulties	1/1	OMIM:225753
283989	TSEN54	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:2524
283989	TSEN54	HP:0002365	Hypoplasia of the brainstem	-	OMIM:225753
283989	TSEN54	HP:0002365	Hypoplasia of the brainstem	HP:0040282	ORPHA:166063
283989	TSEN54	HP:0002365	Hypoplasia of the brainstem	HP:0040282	ORPHA:2524
283989	TSEN54	HP:0002360	Sleep abnormality	HP:0040281	ORPHA:2524
283989	TSEN54	HP:0002350	Cerebellar cyst	HP:0040284	ORPHA:2524
283989	TSEN54	HP:0200049	Upper limb hypertonia	HP:0040283	ORPHA:2524
283989	TSEN54	HP:0007105	Infantile encephalopathy	-	OMIM:225753
283989	TSEN54	HP:0006850	Hypoplasia of the ventral pons	HP:0040281	ORPHA:2524
283989	TSEN54	HP:0006895	Lower limb hypertonia	HP:0040283	ORPHA:2524
283989	TSEN54	HP:0000648	Optic atrophy	0/25	OMIM:277470
283989	TSEN54	HP:0011344	Severe global developmental delay	-	OMIM:277470
283989	TSEN54	HP:0011344	Severe global developmental delay	-	OMIM:225753
283989	TSEN54	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:2524
283989	TSEN54	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:166063
283989	TSEN54	HP:0001999	Abnormal facial shape	-	ORPHA:2524
283989	TSEN54	HP:0006989	Dysplastic corpus callosum	HP:0040283	ORPHA:2524
283989	TSEN54	HP:0006955	Olivopontocerebellar hypoplasia	HP:0040282	ORPHA:166063
283989	TSEN54	HP:0006955	Olivopontocerebellar hypoplasia	-	OMIM:610204
283989	TSEN54	HP:0000711	Restlessness	-	OMIM:277470
283989	TSEN54	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:2524
283989	TSEN54	HP:0011451	Primary microcephaly	HP:0040282	ORPHA:166063
283989	TSEN54	HP:0012765	Widened cerebellar subarachnoid space	HP:0040283	ORPHA:2524
283989	TSEN54	HP:0007772	Impaired smooth pursuit	-	OMIM:277470
283989	TSEN54	HP:0002803	Congenital contracture	0/34	OMIM:277470
283989	TSEN54	HP:0002803	Congenital contracture	2/4	OMIM:225753
283989	TSEN54	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:166063
283989	TSEN54	HP:0000253	Progressive microcephaly	HP:0040282	ORPHA:2524
283989	TSEN54	HP:0000253	Progressive microcephaly	33/33	OMIM:277470
283989	TSEN54	HP:0000252	Microcephaly	-	OMIM:225753
283989	TSEN54	HP:0000252	Microcephaly	-	OMIM:610204
283989	TSEN54	HP:0000252	Microcephaly	-	OMIM:277470
283989	TSEN54	HP:0002878	Respiratory failure	1/1	OMIM:225753
283989	TSEN54	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:166063
283989	TSEN54	HP:0001561	Polyhydramnios	0/34	OMIM:277470
283989	TSEN54	HP:0001561	Polyhydramnios	3/4	OMIM:225753
283989	TSEN54	HP:0001522	Death in infancy	1/1	OMIM:225753
283989	TSEN54	HP:0002871	Central apnea	HP:0040282	ORPHA:166063
283989	TSEN54	HP:0000340	Sloping forehead	HP:0040283	ORPHA:166063
283989	TSEN54	HP:0000340	Sloping forehead	HP:0040282	ORPHA:2524
283989	TSEN54	HP:0000347	Micrognathia	HP:0040283	ORPHA:166063
283989	TSEN54	HP:0011171	Simple febrile seizure	HP:0040283	ORPHA:2524
283989	TSEN54	HP:0012469	Infantile spasms	HP:0040282	ORPHA:2524
283989	TSEN54	HP:0000505	Visual impairment	30/32	OMIM:277470
284058	KANSL1	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0001166	Arachnodactyly	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0002465	Poor speech	-	OMIM:610443
284058	KANSL1	HP:0010945	Fetal pyelectasis	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0010945	Fetal pyelectasis	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0009928	Thick nasal alae	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0009928	Thick nasal alae	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0002414	Spina bifida	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0002414	Spina bifida	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0025268	Stuttering	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0025268	Stuttering	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0001290	Generalized hypotonia	21/22	OMIM:610443
284058	KANSL1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0001274	Agenesis of corpus callosum	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0001256	Intellectual disability, mild	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0001250	Seizure	11/22	OMIM:610443
284058	KANSL1	HP:0001250	Seizure	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0001250	Seizure	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0001252	Hypotonia	HP:0040281	ORPHA:363958
284058	KANSL1	HP:0001252	Hypotonia	HP:0040281	ORPHA:363965
284058	KANSL1	HP:0001249	Intellectual disability	-	OMIM:610443
284058	KANSL1	HP:0001263	Global developmental delay	22/22	OMIM:610443
284058	KANSL1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:363958
284058	KANSL1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:363965
284058	KANSL1	HP:0001238	Slender finger	11/18	OMIM:610443
284058	KANSL1	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0006006	Hypotrophy of the small hand muscles	5/18	OMIM:610443
284058	KANSL1	HP:0001212	Prominent fingertip pads	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0001212	Prominent fingertip pads	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0001212	Prominent fingertip pads	HP:0040282	OMIM:610443
284058	KANSL1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000076	Vesicoureteral reflux	2/11	OMIM:610443
284058	KANSL1	HP:0000075	Renal duplication	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000075	Renal duplication	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0001373	Joint dislocation	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0001373	Joint dislocation	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0001385	Hip dysplasia	HP:0040282	OMIM:610443
284058	KANSL1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0001382	Joint hypermobility	HP:0040282	OMIM:610443
284058	KANSL1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0000047	Hypospadias	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0000047	Hypospadias	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000028	Cryptorchidism	7/9	OMIM:610443
284058	KANSL1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0008872	Feeding difficulties in infancy	HP:0040282	OMIM:610443
284058	KANSL1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000010	Recurrent urinary tract infections	HP:0040284	OMIM:610443
284058	KANSL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:610443
284058	KANSL1	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0002650	Scoliosis	8/22	OMIM:610443
284058	KANSL1	HP:0002650	Scoliosis	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0002650	Scoliosis	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0002616	Aortic root aneurysm	1/11	OMIM:610443
284058	KANSL1	HP:0000189	Narrow palate	11/22	OMIM:610443
284058	KANSL1	HP:0000194	Open mouth	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000194	Open mouth	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000194	Open mouth	-	OMIM:610443
284058	KANSL1	HP:0000175	Cleft palate	2/22	OMIM:610443
284058	KANSL1	HP:0001466	Contiguous gene syndrome	-	OMIM:610443
284058	KANSL1	HP:0002779	Tracheomalacia	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0002779	Tracheomalacia	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000126	Hydronephrosis	-	OMIM:610443
284058	KANSL1	HP:0002021	Pyloric stenosis	HP:0040283	OMIM:610443
284058	KANSL1	HP:0002011	Morphological central nervous system abnormality	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0002011	Morphological central nervous system abnormality	HP:0040282	OMIM:610443
284058	KANSL1	HP:0002011	Morphological central nervous system abnormality	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0003307	Hyperlordosis	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0003302	Spondylolisthesis	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0003302	Spondylolisthesis	HP:0040283	OMIM:610443
284058	KANSL1	HP:0003302	Spondylolisthesis	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:610443
284058	KANSL1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0002119	Ventriculomegaly	6/16	OMIM:610443
284058	KANSL1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0002197	Generalized-onset seizure	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0002197	Generalized-onset seizure	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0008207	Primary adrenal insufficiency	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0011822	Broad chin	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0011822	Broad chin	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0011822	Broad chin	9/22	OMIM:610443
284058	KANSL1	HP:0100710	Impulsivity	-	OMIM:610443
284058	KANSL1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0010719	Abnormality of hair texture	13/22	OMIM:610443
284058	KANSL1	HP:0100775	Dural ectasia	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0100775	Dural ectasia	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0002286	Fair hair	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0002286	Fair hair	HP:0040283	OMIM:610443
284058	KANSL1	HP:0002286	Fair hair	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0002282	Gray matter heterotopia	-	OMIM:610443
284058	KANSL1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0007099	Chiari type I malformation	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0007099	Chiari type I malformation	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0001054	Numerous nevi	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0001054	Numerous nevi	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0001028	Hemangioma	HP:0040284	ORPHA:363965
284058	KANSL1	HP:0001028	Hemangioma	HP:0040284	ORPHA:363958
284058	KANSL1	HP:0001045	Vitiligo	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0001045	Vitiligo	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0001010	Hypopigmentation of the skin	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0001010	Hypopigmentation of the skin	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0002353	EEG abnormality	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0010788	Testicular neoplasm	HP:0040284	ORPHA:363965
284058	KANSL1	HP:0010788	Testicular neoplasm	HP:0040284	ORPHA:363958
284058	KANSL1	HP:0008445	Cervical spinal canal stenosis	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0008445	Cervical spinal canal stenosis	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0004942	Aortic aneurysm	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0006813	Focal hemiclonic seizure	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0006813	Focal hemiclonic seizure	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0004283	Narrow palm	5/22	OMIM:610443
284058	KANSL1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000648	Optic atrophy	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000601	Hypotelorism	HP:0040283	OMIM:610443
284058	KANSL1	HP:0012699	Anomaly of lower limb diaphyses	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0012699	Anomaly of lower limb diaphyses	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0012683	Pineal cyst	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0012683	Pineal cyst	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000687	Widely spaced teeth	14/21	OMIM:610443
284058	KANSL1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:363958
284058	KANSL1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:363965
284058	KANSL1	HP:0005656	Positional foot deformity	HP:0040282	OMIM:610443
284058	KANSL1	HP:0005656	Positional foot deformity	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0005656	Positional foot deformity	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0004322	Short stature	4/22	OMIM:610443
284058	KANSL1	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0000752	Hyperactivity	-	OMIM:610443
284058	KANSL1	HP:0100024	Conspicuously happy disposition	16/18	OMIM:610443
284058	KANSL1	HP:0100025	Overfriendliness	HP:0040281	ORPHA:363965
284058	KANSL1	HP:0100025	Overfriendliness	HP:0040281	ORPHA:363958
284058	KANSL1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000767	Pectus excavatum	5/22	OMIM:610443
284058	KANSL1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000768	Pectus carinatum	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000739	Anxiety	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000739	Anxiety	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000739	Anxiety	HP:0040283	OMIM:610443
284058	KANSL1	HP:0000750	Delayed speech and language development	HP:0040282	OMIM:610443
284058	KANSL1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:363958
284058	KANSL1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:363965
284058	KANSL1	HP:0000748	Inappropriate laughter	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000748	Inappropriate laughter	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0000708	Atypical behavior	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0011470	Nasogastric tube feeding in infancy	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0009130	Hand muscle atrophy	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0009130	Hand muscle atrophy	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0030746	Intraventricular hemorrhage	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0030746	Intraventricular hemorrhage	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000826	Precocious puberty	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000826	Precocious puberty	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:363958
284058	KANSL1	HP:0000821	Hypothyroidism	HP:0040284	ORPHA:363965
284058	KANSL1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040284	ORPHA:363958
284058	KANSL1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040284	ORPHA:363965
284058	KANSL1	HP:0040080	Anteverted ears	4/11	OMIM:610443
284058	KANSL1	HP:0000958	Dry skin	-	OMIM:610443
284058	KANSL1	HP:0000957	Cafe-au-lait spot	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000957	Cafe-au-lait spot	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000968	Ectodermal dysplasia	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0000968	Ectodermal dysplasia	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000964	Eczematoid dermatitis	-	OMIM:610443
284058	KANSL1	HP:0000960	Sacral dimple	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000960	Sacral dimple	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000960	Sacral dimple	-	OMIM:610443
284058	KANSL1	HP:0000962	Hyperkeratosis	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000962	Hyperkeratosis	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0008064	Ichthyosis	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0008064	Ichthyosis	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000286	Epicanthus	15/22	OMIM:610443
284058	KANSL1	HP:0000286	Epicanthus	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0000286	Epicanthus	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0001596	Alopecia	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0001596	Alopecia	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000256	Macrocephaly	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000276	Long face	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0000276	Long face	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0000276	Long face	14/22	OMIM:610443
284058	KANSL1	HP:0007730	Iris hypopigmentation	10/22	OMIM:610443
284058	KANSL1	HP:0002827	Hip dislocation	6/22	OMIM:610443
284058	KANSL1	HP:0002808	Kyphosis	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0002808	Kyphosis	8/22	OMIM:610443
284058	KANSL1	HP:0002808	Kyphosis	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000252	Microcephaly	1/22	OMIM:610443
284058	KANSL1	HP:0000252	Microcephaly	HP:0040284	ORPHA:363958
284058	KANSL1	HP:0000252	Microcephaly	HP:0040284	ORPHA:363965
284058	KANSL1	HP:0000218	High palate	11/22	OMIM:610443
284058	KANSL1	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0000232	Everted lower lip vermilion	HP:0040282	OMIM:610443
284058	KANSL1	HP:0002861	Melanoma	HP:0040284	ORPHA:363958
284058	KANSL1	HP:0002861	Melanoma	HP:0040284	ORPHA:363965
284058	KANSL1	HP:0001533	Slender build	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0001533	Slender build	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000204	Cleft upper lip	-	OMIM:610443
284058	KANSL1	HP:0001508	Failure to thrive	-	OMIM:610443
284058	KANSL1	HP:0001518	Small for gestational age	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0001518	Small for gestational age	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0001518	Small for gestational age	6/22	OMIM:610443
284058	KANSL1	HP:0001511	Intrauterine growth retardation	-	OMIM:610443
284058	KANSL1	HP:0011098	Speech apraxia	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0011098	Speech apraxia	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000396	Overfolded helix	-	OMIM:610443
284058	KANSL1	HP:0005216	Impaired mastication	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0005216	Impaired mastication	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0001601	Laryngomalacia	-	OMIM:610443
284058	KANSL1	HP:0002948	Vertebral fusion	HP:0040283	OMIM:610443
284058	KANSL1	HP:0001611	Hypernasal speech	6/12	OMIM:610443
284058	KANSL1	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0006482	Abnormal dental morphology	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0000337	Broad forehead	15/22	OMIM:610443
284058	KANSL1	HP:0000348	High forehead	15/22	OMIM:610443
284058	KANSL1	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0001647	Bicuspid aortic valve	HP:0040283	OMIM:610443
284058	KANSL1	HP:0001643	Patent ductus arteriosus	1/22	OMIM:610443
284058	KANSL1	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0001642	Pulmonic stenosis	-	OMIM:610443
284058	KANSL1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0001629	Ventricular septal defect	1/11	OMIM:610443
284058	KANSL1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0001627	Abnormal heart morphology	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0001631	Atrial septal defect	2/11	OMIM:610443
284058	KANSL1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0006610	Wide intermamillary distance	-	OMIM:610443
284058	KANSL1	HP:0011185	EEG with focal epileptiform discharges	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0011185	EEG with focal epileptiform discharges	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0011182	Interictal epileptiform activity	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0011182	Interictal epileptiform activity	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000400	Macrotia	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0000400	Macrotia	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0000400	Macrotia	13/22	OMIM:610443
284058	KANSL1	HP:0000486	Strabismus	10/22	OMIM:610443
284058	KANSL1	HP:0000486	Strabismus	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0000486	Strabismus	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0012433	Abnormal social behavior	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0012433	Abnormal social behavior	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0012443	Abnormal brain morphology	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0001763	Pes planus	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0001763	Pes planus	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0000447	Pear-shaped nose	18/22	OMIM:610443
284058	KANSL1	HP:0000447	Pear-shaped nose	HP:0040281	ORPHA:363965
284058	KANSL1	HP:0000447	Pear-shaped nose	HP:0040281	ORPHA:363958
284058	KANSL1	HP:0000414	Bulbous nose	HP:0040281	ORPHA:363958
284058	KANSL1	HP:0000414	Bulbous nose	HP:0040281	ORPHA:363965
284058	KANSL1	HP:0000414	Bulbous nose	20/21	OMIM:610443
284058	KANSL1	HP:0000411	Protruding ear	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0000411	Protruding ear	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000430	Underdeveloped nasal alae	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000430	Underdeveloped nasal alae	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0001761	Pes cavus	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0001761	Pes cavus	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000426	Prominent nasal bridge	-	OMIM:610443
284058	KANSL1	HP:0005487	Prominent metopic ridge	1/22	OMIM:610443
284058	KANSL1	HP:0000518	Cataract	1/22	OMIM:610443
284058	KANSL1	HP:0001848	Calcaneovalgus deformity	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0001848	Calcaneovalgus deformity	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0000519	Developmental cataract	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000519	Developmental cataract	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000508	Ptosis	11/22	OMIM:610443
284058	KANSL1	HP:0000508	Ptosis	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0000508	Ptosis	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0000505	Visual impairment	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0000505	Visual impairment	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0000582	Upslanted palpebral fissure	15/22	OMIM:610443
284058	KANSL1	HP:0000582	Upslanted palpebral fissure	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:363958
284058	KANSL1	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:363965
284058	KANSL1	HP:0000581	Blepharophimosis	8/22	OMIM:610443
284058	KANSL1	HP:0000540	Hypermetropia	HP:0040282	ORPHA:363958
284058	KANSL1	HP:0000540	Hypermetropia	HP:0040282	ORPHA:363965
284058	KANSL1	HP:0000540	Hypermetropia	8/22	OMIM:610443
284086	NEK8	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:730
284086	NEK8	HP:0003774	Stage 5 chronic kidney disease	13/14	OMIM:620903
284086	NEK8	HP:0003774	Stage 5 chronic kidney disease	3/3	OMIM:613824
284086	NEK8	HP:0410288	Hyperamylasemia	HP:0040283	ORPHA:294415
284086	NEK8	HP:0008672	Calcium oxalate nephrolithiasis	HP:0040283	ORPHA:730
284086	NEK8	HP:0003826	Stillbirth	2/2	OMIM:615415
284086	NEK8	HP:0000083	Renal insufficiency	HP:0040281	ORPHA:730
284086	NEK8	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:294415
284086	NEK8	HP:0000083	Renal insufficiency	1/1	OMIM:620903
284086	NEK8	HP:0000097	Focal segmental glomerulosclerosis	2/2	OMIM:620903
284086	NEK8	HP:0000090	Nephronophthisis	2/3	OMIM:620903
284086	NEK8	HP:0000090	Nephronophthisis	3/3	OMIM:613824
284086	NEK8	HP:0001396	Cholestasis	-	OMIM:615415
284086	NEK8	HP:0001395	Hepatic fibrosis	-	OMIM:615415
284086	NEK8	HP:0001395	Hepatic fibrosis	HP:0040283	ORPHA:294415
284086	NEK8	HP:0001394	Cirrhosis	HP:0040283	ORPHA:294415
284086	NEK8	HP:0008897	Postnatal growth retardation	3/3	OMIM:613824
284086	NEK8	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:730
284086	NEK8	HP:0000007	Autosomal recessive inheritance	-	OMIM:613824
284086	NEK8	HP:0000007	Autosomal recessive inheritance	-	OMIM:615415
284086	NEK8	HP:0000006	Autosomal dominant inheritance	-	OMIM:620903
284086	NEK8	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:294415
284086	NEK8	HP:0002616	Aortic root aneurysm	HP:0040283	ORPHA:730
284086	NEK8	HP:0000110	Renal dysplasia	HP:0040281	ORPHA:294415
284086	NEK8	HP:0000107	Renal cyst	HP:0040281	ORPHA:730
284086	NEK8	HP:0000107	Renal cyst	HP:0040282	ORPHA:294415
284086	NEK8	HP:0000103	Polyuria	1/1	OMIM:620903
284086	NEK8	HP:0000103	Polyuria	3/3	OMIM:613824
284086	NEK8	HP:0000105	Enlarged kidney	14/20	OMIM:620903
284086	NEK8	HP:0000105	Enlarged kidney	HP:0040283	ORPHA:730
284086	NEK8	HP:0000105	Enlarged kidney	2/3	OMIM:615415
284086	NEK8	HP:0000105	Enlarged kidney	HP:0040282	ORPHA:294415
284086	NEK8	HP:0000104	Renal agenesis	HP:0040283	ORPHA:294415
284086	NEK8	HP:0001407	Hepatic cysts	HP:0040281	ORPHA:730
284086	NEK8	HP:0001407	Hepatic cysts	2/20	OMIM:620903
284086	NEK8	HP:0001407	Hepatic cysts	2/3	OMIM:615415
284086	NEK8	HP:0001407	Hepatic cysts	HP:0040283	ORPHA:294415
284086	NEK8	HP:0030992	Abnormal pancreatic duct morphology	HP:0040282	ORPHA:294415
284086	NEK8	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:294415
284086	NEK8	HP:0002089	Pulmonary hypoplasia	1/3	OMIM:615415
284086	NEK8	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:294415
284086	NEK8	HP:0030948	Elevated gamma-glutamyltransferase level	HP:0040282	ORPHA:294415
284086	NEK8	HP:0011760	Pituitary growth hormone cell adenoma	HP:0040284	ORPHA:730
284086	NEK8	HP:0002101	Abnormal lung lobation	1/3	OMIM:615415
284086	NEK8	HP:0004734	Renal cortical microcysts	1/1	OMIM:613824
284086	NEK8	HP:0004719	Hyperechogenic kidneys	1/1	OMIM:620903
284086	NEK8	HP:0003596	Middle age onset	3/19	OMIM:620903
284086	NEK8	HP:0003593	Infantile onset	1/1	OMIM:620903
284086	NEK8	HP:0003577	Congenital onset	-	OMIM:615415
284086	NEK8	HP:0003577	Congenital onset	1/19	OMIM:620903
284086	NEK8	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:294415
284086	NEK8	HP:0002240	Hepatomegaly	-	OMIM:615415
284086	NEK8	HP:0100702	Arachnoid cyst	HP:0040283	ORPHA:730
284086	NEK8	HP:0003584	Late onset	1/19	OMIM:620903
284086	NEK8	HP:0004890	Elevated pulmonary artery pressure	HP:0040283	ORPHA:294415
284086	NEK8	HP:0100732	Pancreatic fibrosis	HP:0040282	ORPHA:294415
284086	NEK8	HP:0002280	Enlarged cisterna magna	1/1	OMIM:615415
284086	NEK8	HP:0100651	Type I diabetes mellitus	HP:0040282	ORPHA:294415
284086	NEK8	HP:0033478	Increased circulating lipoprotein lipase concentration	HP:0040283	ORPHA:294415
284086	NEK8	HP:0003623	Neonatal onset	1/19	OMIM:620903
284086	NEK8	HP:0003621	Juvenile onset	3/19	OMIM:620903
284086	NEK8	HP:0004944	Dilatation of the cerebral artery	HP:0040283	ORPHA:730
284086	NEK8	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:730
284086	NEK8	HP:0001959	Polydipsia	1/1	OMIM:620903
284086	NEK8	HP:0001959	Polydipsia	3/3	OMIM:613824
284086	NEK8	HP:0001903	Anemia	3/3	OMIM:613824
284086	NEK8	HP:0004322	Short stature	2/19	OMIM:620903
284086	NEK8	HP:0031956	Elevated circulating aspartate aminotransferase concentration	HP:0040282	ORPHA:294415
284086	NEK8	HP:0031964	Elevated circulating alanine aminotransferase concentration	HP:0040282	ORPHA:294415
284086	NEK8	HP:0000800	Cystic renal dysplasia	3/4	OMIM:615415
284086	NEK8	HP:0034198	Second trimester onset	3/3	OMIM:615415
284086	NEK8	HP:0011463	Childhood onset	4/19	OMIM:620903
284086	NEK8	HP:0011462	Young adult onset	2/19	OMIM:620903
284086	NEK8	HP:0011461	Fetal onset	4/19	OMIM:620903
284086	NEK8	HP:0000791	Uric acid nephrolithiasis	HP:0040283	ORPHA:730
284086	NEK8	HP:0000790	Hematuria	HP:0040282	ORPHA:730
284086	NEK8	HP:0000822	Hypertension	HP:0040282	ORPHA:730
284086	NEK8	HP:0000822	Hypertension	16/20	OMIM:620903
284086	NEK8	HP:0003259	Elevated circulating creatinine concentration	HP:0040281	ORPHA:730
284086	NEK8	HP:0000952	Jaundice	HP:0040283	ORPHA:294415
284086	NEK8	HP:0012213	Decreased glomerular filtration rate	HP:0040281	ORPHA:730
284086	NEK8	HP:0012207	Reduced sperm motility	HP:0040283	ORPHA:730
284086	NEK8	HP:0001562	Oligohydramnios	3/4	OMIM:615415
284086	NEK8	HP:0001562	Oligohydramnios	HP:0040282	ORPHA:294415
284086	NEK8	HP:0005232	Pancreatic dysplasia	HP:0040282	ORPHA:294415
284086	NEK8	HP:0006563	Malformation of the hepatic ductal plate	2/2	OMIM:615415
284086	NEK8	HP:0006566	Neonatal cholestatic liver disease	HP:0040282	ORPHA:294415
284086	NEK8	HP:0006557	Polycystic liver disease	HP:0040283	ORPHA:730
284086	NEK8	HP:0002904	Hyperbilirubinemia	HP:0040282	ORPHA:294415
284086	NEK8	HP:0001696	Situs inversus totalis	1/3	OMIM:615415
284086	NEK8	HP:0011004	Abnormal systemic arterial morphology	HP:0040283	ORPHA:730
284086	NEK8	HP:0012330	Pyelonephritis	HP:0040283	ORPHA:730
284086	NEK8	HP:0001650	Aortic valve stenosis	-	OMIM:615415
284086	NEK8	HP:0001650	Aortic valve stenosis	HP:0040283	ORPHA:294415
284086	NEK8	HP:0002980	Femoral bowing	3/3	OMIM:615415
284086	NEK8	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:294415
284086	NEK8	HP:0001642	Pulmonic stenosis	-	OMIM:615415
284086	NEK8	HP:0001642	Pulmonic stenosis	HP:0040283	ORPHA:294415
284086	NEK8	HP:0001660	Truncus arteriosus	2/3	OMIM:615415
284086	NEK8	HP:0030146	Abnormal liver parenchyma morphology	HP:0040282	ORPHA:294415
284086	NEK8	HP:0030157	Flank pain	HP:0040282	ORPHA:730
284086	NEK8	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:615415
284086	NEK8	HP:0001634	Mitral valve prolapse	HP:0040283	ORPHA:730
284086	NEK8	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:730
284086	NEK8	HP:0001737	Pancreatic cysts	HP:0040283	ORPHA:294415
284086	NEK8	HP:0001712	Left ventricular hypertrophy	2/2	OMIM:620903
284086	NEK8	HP:0001790	Nonimmune hydrops fetalis	HP:0040283	ORPHA:294415
284086	NEK8	HP:0001746	Asplenia	1/3	OMIM:615415
284086	NEK8	HP:0001746	Asplenia	HP:0040283	ORPHA:294415
284086	NEK8	HP:0001744	Splenomegaly	HP:0040283	ORPHA:294415
284086	NEK8	HP:0001762	Talipes equinovarus	1/3	OMIM:615415
284086	NEK8	HP:0012591	Abnormal urinary electrolyte concentration	HP:0040282	ORPHA:730
284086	NEK8	HP:0012592	Albuminuria	HP:0040282	ORPHA:730
284086	NEK8	HP:0000546	Retinal degeneration	1/3	OMIM:613824
284098	PIGW	HP:0001195	Single umbilical artery	HP:0040283	ORPHA:247262
284098	PIGW	HP:0010864	Intellectual disability, severe	HP:0040283	ORPHA:247262
284098	PIGW	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:247262
284098	PIGW	HP:0001288	Gait disturbance	HP:0040283	ORPHA:247262
284098	PIGW	HP:0001250	Seizure	-	OMIM:616025
284098	PIGW	HP:0001250	Seizure	HP:0040281	ORPHA:247262
284098	PIGW	HP:0001251	Ataxia	HP:0040283	ORPHA:247262
284098	PIGW	HP:0001249	Intellectual disability	-	OMIM:616025
284098	PIGW	HP:0001249	Intellectual disability	HP:0040282	ORPHA:247262
284098	PIGW	HP:0001263	Global developmental delay	-	OMIM:616025
284098	PIGW	HP:0001263	Global developmental delay	HP:0040281	ORPHA:247262
284098	PIGW	HP:0002558	Supernumerary nipple	HP:0040283	ORPHA:247262
284098	PIGW	HP:0006118	Shortening of all distal phalanges of the fingers	HP:0040281	ORPHA:247262
284098	PIGW	HP:0007359	Focal-onset seizure	1/1	OMIM:616025
284098	PIGW	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:247262
284098	PIGW	HP:0002521	Hypsarrhythmia	1/1	OMIM:616025
284098	PIGW	HP:0001385	Hip dysplasia	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000023	Inguinal hernia	1/1	OMIM:616025
284098	PIGW	HP:0002696	Abnormal parietal bone morphology	HP:0040283	ORPHA:247262
284098	PIGW	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:247262
284098	PIGW	HP:0001344	Absent speech	-	OMIM:616025
284098	PIGW	HP:0000007	Autosomal recessive inheritance	-	OMIM:616025
284098	PIGW	HP:0001336	Myoclonus	HP:0040283	ORPHA:247262
284098	PIGW	HP:0002650	Scoliosis	HP:0040283	ORPHA:247262
284098	PIGW	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000193	Bifid uvula	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000158	Macroglossia	-	OMIM:616025
284098	PIGW	HP:0008947	Floppy infant	HP:0040281	ORPHA:247262
284098	PIGW	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:247262
284098	PIGW	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:247262
284098	PIGW	HP:0002069	Bilateral tonic-clonic seizure	HP:0040282	ORPHA:247262
284098	PIGW	HP:0003593	Infantile onset	1/1	OMIM:616025
284098	PIGW	HP:0002251	Aganglionic megacolon	HP:0040283	ORPHA:247262
284098	PIGW	HP:0002392	EEG with polyspike wave complexes	HP:0040283	ORPHA:247262
284098	PIGW	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:247262
284098	PIGW	HP:0001009	Telangiectasia	HP:0040283	ORPHA:247262
284098	PIGW	HP:0010804	Tented upper lip vermilion	HP:0040282	ORPHA:247262
284098	PIGW	HP:0010804	Tented upper lip vermilion	2/2	OMIM:616025
284098	PIGW	HP:0006808	Cerebral hypomyelination	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:247262
284098	PIGW	HP:0011344	Severe global developmental delay	1/1	OMIM:616025
284098	PIGW	HP:0000657	Oculomotor apraxia	HP:0040283	ORPHA:247262
284098	PIGW	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:247262
284098	PIGW	HP:0012736	Profound global developmental delay	1/1	OMIM:616025
284098	PIGW	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:247262
284098	PIGW	HP:0012704	Widened subarachnoid space	1/1	OMIM:616025
284098	PIGW	HP:0000729	Autistic behavior	HP:0040283	ORPHA:247262
284098	PIGW	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:247262
284098	PIGW	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040281	ORPHA:247262
284098	PIGW	HP:0003155	Elevated circulating alkaline phosphatase concentration	1/1	OMIM:616025
284098	PIGW	HP:0040194	Increased head circumference	HP:0040283	ORPHA:247262
284098	PIGW	HP:0040195	Decreased head circumference	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000286	Epicanthus	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000280	Coarse facial features	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000280	Coarse facial features	1/1	OMIM:616025
284098	PIGW	HP:0000289	Broad philtrum	HP:0040283	ORPHA:247262
284098	PIGW	HP:0030084	Clinodactyly	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000248	Brachycephaly	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000218	High palate	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000218	High palate	1/1	OMIM:616025
284098	PIGW	HP:0001545	Anteriorly placed anus	HP:0040283	ORPHA:247262
284098	PIGW	HP:0001562	Oligohydramnios	HP:0040283	ORPHA:247262
284098	PIGW	HP:0001537	Umbilical hernia	1/1	OMIM:616025
284098	PIGW	HP:0001510	Growth delay	HP:0040282	ORPHA:247262
284098	PIGW	HP:0000378	Cupped ear	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000391	Thickened helices	HP:0040283	ORPHA:247262
284098	PIGW	HP:0032792	Tonic seizure	1/1	OMIM:616025
284098	PIGW	HP:0000347	Micrognathia	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000316	Hypertelorism	HP:0040281	ORPHA:247262
284098	PIGW	HP:0000311	Round face	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000322	Short philtrum	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:247262
284098	PIGW	HP:0001792	Small nail	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000470	Short neck	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000414	Bulbous nose	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000431	Wide nasal bridge	2/2	OMIM:616025
284098	PIGW	HP:0000431	Wide nasal bridge	HP:0040282	ORPHA:247262
284098	PIGW	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000582	Upslanted palpebral fissure	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000594	Shallow anterior chamber	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000565	Esotropia	HP:0040283	ORPHA:247262
284098	PIGW	HP:0000540	Hypermetropia	HP:0040283	ORPHA:247262
284111	SLC13A5	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:1946
284111	SLC13A5	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
284111	SLC13A5	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
284111	SLC13A5	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0001268	Mental deterioration	HP:0040281	ORPHA:1946
284111	SLC13A5	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0001250	Seizure	HP:0040282	ORPHA:442835
284111	SLC13A5	HP:0001250	Seizure	HP:0040281	ORPHA:1946
284111	SLC13A5	HP:0001251	Ataxia	-	OMIM:615905
284111	SLC13A5	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
284111	SLC13A5	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
284111	SLC13A5	HP:0001266	Choreoathetosis	2/8	OMIM:615905
284111	SLC13A5	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
284111	SLC13A5	HP:0001263	Global developmental delay	8/8	OMIM:615905
284111	SLC13A5	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0001257	Spasticity	HP:0040281	ORPHA:1946
284111	SLC13A5	HP:0001257	Spasticity	-	OMIM:615905
284111	SLC13A5	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
284111	SLC13A5	HP:0002509	Limb hypertonia	5/7	OMIM:615905
284111	SLC13A5	HP:0002500	Abnormal cerebral white matter morphology	-	OMIM:615905
284111	SLC13A5	HP:0031165	Multifocal seizures	-	OMIM:615905
284111	SLC13A5	HP:0001332	Dystonia	2/8	OMIM:615905
284111	SLC13A5	HP:0001344	Absent speech	8/8	OMIM:615905
284111	SLC13A5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615905
284111	SLC13A5	HP:0001337	Tremor	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0008936	Axial hypotonia	17/17	OMIM:615905
284111	SLC13A5	HP:0006286	Yellow-brown discoloration of the teeth	HP:0040281	ORPHA:1946
284111	SLC13A5	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
284111	SLC13A5	HP:0002133	Status epilepticus	5/6	OMIM:615905
284111	SLC13A5	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0200134	Epileptic encephalopathy	8/8	OMIM:615905
284111	SLC13A5	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
284111	SLC13A5	HP:0002376	Developmental regression	HP:0040281	ORPHA:1946
284111	SLC13A5	HP:0002353	EEG abnormality	HP:0040281	ORPHA:1946
284111	SLC13A5	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
284111	SLC13A5	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0003623	Neonatal onset	8/8	OMIM:615905
284111	SLC13A5	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
284111	SLC13A5	HP:0000682	Abnormal dental enamel morphology	HP:0040281	ORPHA:1946
284111	SLC13A5	HP:0000684	Delayed eruption of teeth	-	OMIM:615905
284111	SLC13A5	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0000668	Hypodontia	-	OMIM:615905
284111	SLC13A5	HP:0004322	Short stature	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0004322	Short stature	HP:0040283	ORPHA:1946
284111	SLC13A5	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0004305	Involuntary movements	-	OMIM:615905
284111	SLC13A5	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
284111	SLC13A5	HP:0000717	Autism	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0000726	Dementia	HP:0040281	ORPHA:1946
284111	SLC13A5	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0000705	Amelogenesis imperfecta	HP:0040281	ORPHA:1946
284111	SLC13A5	HP:0000705	Amelogenesis imperfecta	-	OMIM:615905
284111	SLC13A5	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
284111	SLC13A5	HP:0000817	Reduced eye contact	2/8	OMIM:615905
284111	SLC13A5	HP:0000966	Hypohidrosis	HP:0040282	ORPHA:1946
284111	SLC13A5	HP:0000238	Hydrocephalus	HP:0040283	ORPHA:1946
284111	SLC13A5	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0000252	Microcephaly	-	OMIM:615905
284111	SLC13A5	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
284111	SLC13A5	HP:0011073	Abnormality of dental color	HP:0040281	ORPHA:1946
284111	SLC13A5	HP:0000348	High forehead	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0012448	Delayed myelination	-	OMIM:615905
284111	SLC13A5	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
284111	SLC13A5	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
284111	SLC13A5	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
284111	SLC13A5	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
284119	CAVIN1	HP:0003701	Proximal muscle weakness	-	OMIM:613327
284119	CAVIN1	HP:0003719	Muscle mounding	3/3	OMIM:613327
284119	CAVIN1	HP:0003712	Skeletal muscle hypertrophy	3/4	OMIM:613327
284119	CAVIN1	HP:0002595	Ileus	-	OMIM:613327
284119	CAVIN1	HP:0001397	Hepatic steatosis	1/3	OMIM:613327
284119	CAVIN1	HP:0001371	Flexion contracture	2/5	OMIM:613327
284119	CAVIN1	HP:0001324	Muscle weakness	3/5	OMIM:613327
284119	CAVIN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613327
284119	CAVIN1	HP:0002650	Scoliosis	2/5	OMIM:613327
284119	CAVIN1	HP:0002617	Vascular dilatation	-	OMIM:613327
284119	CAVIN1	HP:0033794	Acral overgrowth	2/5	OMIM:613327
284119	CAVIN1	HP:0002719	Recurrent infections	-	OMIM:613327
284119	CAVIN1	HP:0002720	Decreased circulating IgA concentration	-	OMIM:613327
284119	CAVIN1	HP:0002021	Pyloric stenosis	-	OMIM:613327
284119	CAVIN1	HP:0002019	Constipation	2/5	OMIM:613327
284119	CAVIN1	HP:0003326	Myalgia	1/4	OMIM:613327
284119	CAVIN1	HP:0002015	Dysphagia	-	OMIM:613327
284119	CAVIN1	HP:0003307	Hyperlordosis	1/5	OMIM:613327
284119	CAVIN1	HP:0003306	Spinal rigidity	-	OMIM:613327
284119	CAVIN1	HP:0003324	Generalized muscle weakness	-	OMIM:613327
284119	CAVIN1	HP:0002155	Hypertriglyceridemia	2/5	OMIM:613327
284119	CAVIN1	HP:0003593	Infantile onset	-	OMIM:613327
284119	CAVIN1	HP:0002240	Hepatomegaly	2/3	OMIM:613327
284119	CAVIN1	HP:0003552	Muscle stiffness	11/14	OMIM:613327
284119	CAVIN1	HP:0003546	Exercise intolerance	-	OMIM:613327
284119	CAVIN1	HP:0003560	Muscular dystrophy	-	OMIM:613327
284119	CAVIN1	HP:0003557	Increased variability in muscle fiber diameter	5/5	OMIM:613327
284119	CAVIN1	HP:0011968	Feeding difficulties	-	OMIM:613327
284119	CAVIN1	HP:0001007	Hirsutism	HP:0040283	OMIM:613327
284119	CAVIN1	HP:0003687	Centrally nucleated skeletal muscle fibers	5/5	OMIM:613327
284119	CAVIN1	HP:0005616	Accelerated skeletal maturation	1/5	OMIM:613327
284119	CAVIN1	HP:0009125	Lipodystrophy	5/5	OMIM:613327
284119	CAVIN1	HP:0000855	Insulin resistance	-	OMIM:613327
284119	CAVIN1	HP:0000842	Hyperinsulinemia	2/5	OMIM:613327
284119	CAVIN1	HP:0003236	Elevated circulating creatine kinase concentration	5/5	OMIM:613327
284119	CAVIN1	HP:0000956	Acanthosis nigricans	0/5	OMIM:613327
284119	CAVIN1	HP:0000939	Osteoporosis	-	OMIM:613327
284119	CAVIN1	HP:0000938	Osteopenia	-	OMIM:613327
284119	CAVIN1	HP:0005110	Atrial fibrillation	1/5	OMIM:613327
284119	CAVIN1	HP:0001544	Prominent umbilicus	1/5	OMIM:613327
284119	CAVIN1	HP:0001508	Failure to thrive	-	OMIM:613327
284119	CAVIN1	HP:0006532	Recurrent pneumonia	2/5	OMIM:613327
284119	CAVIN1	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:613327
284119	CAVIN1	HP:0001649	Tachycardia	-	OMIM:613327
284119	CAVIN1	HP:0001662	Bradycardia	-	OMIM:613327
284119	CAVIN1	HP:0001657	Prolonged QT interval	-	OMIM:613327
284119	CAVIN1	HP:0001744	Splenomegaly	2/3	OMIM:613327
284161	GDPD1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
284161	GDPD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
284161	GDPD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
284161	GDPD1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
284161	GDPD1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
284161	GDPD1	HP:0003621	Juvenile onset	8/19	OMIM:180100
284161	GDPD1	HP:0000662	Nyctalopia	26/28	OMIM:180100
284161	GDPD1	HP:0011463	Childhood onset	3/19	OMIM:180100
284161	GDPD1	HP:0011462	Young adult onset	8/19	OMIM:180100
284161	GDPD1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
284161	GDPD1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
284161	GDPD1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
284161	GDPD1	HP:0000575	Scotoma	5/18	OMIM:180100
284161	GDPD1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
284161	GDPD1	HP:0000545	Myopia	-	OMIM:180100
284184	NDUFAF8	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
284184	NDUFAF8	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0001250	Seizure	-	OMIM:618776
284184	NDUFAF8	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0002521	Hypsarrhythmia	1/3	OMIM:618776
284184	NDUFAF8	HP:0008872	Feeding difficulties in infancy	-	OMIM:618776
284184	NDUFAF8	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0000007	Autosomal recessive inheritance	-	OMIM:618776
284184	NDUFAF8	HP:0032615	Abnormal diffusion weighted cerebral MRI morphology	-	OMIM:618776
284184	NDUFAF8	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
284184	NDUFAF8	HP:0011923	Decreased activity of mitochondrial complex I	-	OMIM:618776
284184	NDUFAF8	HP:0003593	Infantile onset	-	OMIM:618776
284184	NDUFAF8	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0004887	Respiratory failure requiring assisted ventilation	-	OMIM:618776
284184	NDUFAF8	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
284184	NDUFAF8	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0000648	Optic atrophy	-	OMIM:618776
284184	NDUFAF8	HP:0000618	Blindness	HP:0040283	ORPHA:2609
284184	NDUFAF8	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0001942	Metabolic acidosis	-	OMIM:618776
284184	NDUFAF8	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0003128	Lactic acidosis	3/3	OMIM:618776
284184	NDUFAF8	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
284184	NDUFAF8	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
284184	NDUFAF8	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0001511	Intrauterine growth retardation	1/3	OMIM:618776
284184	NDUFAF8	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0012469	Infantile spasms	1/3	OMIM:618776
284184	NDUFAF8	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
284184	NDUFAF8	HP:0000543	Optic disc pallor	-	OMIM:618776
284217	LAMA1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
284217	LAMA1	HP:0001105	Retinal atrophy	-	OMIM:615960
284217	LAMA1	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:370022
284217	LAMA1	HP:0001290	Generalized hypotonia	HP:0040283	OMIM:615960
284217	LAMA1	HP:0001270	Motor delay	-	OMIM:615960
284217	LAMA1	HP:0002599	Head titubation	HP:0040283	ORPHA:370022
284217	LAMA1	HP:0001252	Hypotonia	HP:0040283	OMIM:615960
284217	LAMA1	HP:0001252	Hypotonia	HP:0040283	ORPHA:370022
284217	LAMA1	HP:0001251	Ataxia	HP:0040281	ORPHA:370022
284217	LAMA1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:370022
284217	LAMA1	HP:0002518	Abnormal periventricular white matter morphology	-	OMIM:615960
284217	LAMA1	HP:0003828	Variable expressivity	-	OMIM:615960
284217	LAMA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615960
284217	LAMA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
284217	LAMA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
284217	LAMA1	HP:0001320	Cerebellar vermis hypoplasia	-	OMIM:615960
284217	LAMA1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
284217	LAMA1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
284217	LAMA1	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:370022
284217	LAMA1	HP:0011933	Elongated superior cerebellar peduncle	HP:0040282	ORPHA:370022
284217	LAMA1	HP:0002198	Dilated fourth ventricle	-	OMIM:615960
284217	LAMA1	HP:0002198	Dilated fourth ventricle	HP:0040281	ORPHA:370022
284217	LAMA1	HP:0002282	Gray matter heterotopia	-	OMIM:615960
284217	LAMA1	HP:0007033	Cerebellar dysplasia	-	OMIM:615960
284217	LAMA1	HP:0007033	Cerebellar dysplasia	HP:0040281	ORPHA:370022
284217	LAMA1	HP:0007068	Inferior cerebellar vermis hypoplasia	HP:0040282	ORPHA:370022
284217	LAMA1	HP:0002363	Abnormal brainstem morphology	HP:0040282	ORPHA:370022
284217	LAMA1	HP:0002342	Intellectual disability, moderate	HP:0040281	ORPHA:370022
284217	LAMA1	HP:0002350	Cerebellar cyst	-	OMIM:615960
284217	LAMA1	HP:0002350	Cerebellar cyst	HP:0040281	ORPHA:370022
284217	LAMA1	HP:0003621	Juvenile onset	8/19	OMIM:180100
284217	LAMA1	HP:0000639	Nystagmus	-	OMIM:615960
284217	LAMA1	HP:0000639	Nystagmus	HP:0040283	ORPHA:370022
284217	LAMA1	HP:0000646	Amblyopia	-	OMIM:615960
284217	LAMA1	HP:0000646	Amblyopia	HP:0040282	ORPHA:370022
284217	LAMA1	HP:0000662	Nyctalopia	26/28	OMIM:180100
284217	LAMA1	HP:0000657	Oculomotor apraxia	-	OMIM:615960
284217	LAMA1	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:370022
284217	LAMA1	HP:0000750	Delayed speech and language development	-	OMIM:615960
284217	LAMA1	HP:0000750	Delayed speech and language development	HP:0040284	ORPHA:370022
284217	LAMA1	HP:0011463	Childhood onset	3/19	OMIM:180100
284217	LAMA1	HP:0011462	Young adult onset	8/19	OMIM:180100
284217	LAMA1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283	ORPHA:370022
284217	LAMA1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
284217	LAMA1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
284217	LAMA1	HP:0030329	Retinal thinning	-	OMIM:615960
284217	LAMA1	HP:0000486	Strabismus	-	OMIM:615960
284217	LAMA1	HP:0000486	Strabismus	HP:0040282	ORPHA:370022
284217	LAMA1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
284217	LAMA1	HP:0000575	Scotoma	5/18	OMIM:180100
284217	LAMA1	HP:0000556	Retinal dystrophy	-	OMIM:615960
284217	LAMA1	HP:0000556	Retinal dystrophy	HP:0040283	ORPHA:370022
284217	LAMA1	HP:0000540	Hypermetropia	HP:0040283	ORPHA:370022
284217	LAMA1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
284217	LAMA1	HP:0000545	Myopia	-	OMIM:180100
284217	LAMA1	HP:0000545	Myopia	-	OMIM:615960
284217	LAMA1	HP:0000545	Myopia	HP:0040282	ORPHA:370022
284252	KCTD1	HP:0009916	Anisocoria	1/17	OMIM:181270
284252	KCTD1	HP:0008551	Microtia	HP:0040281	ORPHA:2036
284252	KCTD1	HP:0008551	Microtia	3/12	OMIM:181270
284252	KCTD1	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:2036
284252	KCTD1	HP:0006101	Finger syndactyly	6/19	OMIM:181270
284252	KCTD1	HP:0000089	Renal hypoplasia	4/15	OMIM:181270
284252	KCTD1	HP:0000083	Renal insufficiency	5/15	OMIM:181270
284252	KCTD1	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:2036
284252	KCTD1	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:2036
284252	KCTD1	HP:0001362	Calvarial skull defect	2/17	OMIM:181270
284252	KCTD1	HP:0000010	Recurrent urinary tract infections	HP:0040282	ORPHA:2036
284252	KCTD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:181270
284252	KCTD1	HP:0000193	Bifid uvula	1/17	OMIM:181270
284252	KCTD1	HP:0000164	Abnormality of the dentition	HP:0040282	ORPHA:2036
284252	KCTD1	HP:0006349	Agenesis of permanent teeth	-	OMIM:181270
284252	KCTD1	HP:0000122	Unilateral renal agenesis	1/15	OMIM:181270
284252	KCTD1	HP:0004691	2-3 toe syndactyly	-	OMIM:181270
284252	KCTD1	HP:0002000	Short columella	HP:0040283	OMIM:181270
284252	KCTD1	HP:0002007	Frontal bossing	1/17	OMIM:181270
284252	KCTD1	HP:0100540	Palpebral edema	HP:0040282	ORPHA:2036
284252	KCTD1	HP:0100540	Palpebral edema	-	OMIM:181270
284252	KCTD1	HP:0004755	Supraventricular tachycardia	1/17	OMIM:181270
284252	KCTD1	HP:0011939	3-4 finger cutaneous syndactyly	-	OMIM:181270
284252	KCTD1	HP:0002164	Nail dysplasia	11/20	OMIM:181270
284252	KCTD1	HP:0002215	Sparse axillary hair	9/9	OMIM:181270
284252	KCTD1	HP:0002232	Patchy alopecia	1/12	OMIM:181270
284252	KCTD1	HP:0002225	Sparse pubic hair	9/9	OMIM:181270
284252	KCTD1	HP:0002213	Fine hair	7/12	OMIM:181270
284252	KCTD1	HP:0009738	Abnormal antihelix morphology	HP:0040281	ORPHA:2036
284252	KCTD1	HP:0100783	Breast aplasia	-	OMIM:181270
284252	KCTD1	HP:0100783	Breast aplasia	HP:0040281	ORPHA:2036
284252	KCTD1	HP:0001057	Aplasia cutis congenita	29/29	OMIM:181270
284252	KCTD1	HP:0001012	Multiple lipomas	1/17	OMIM:181270
284252	KCTD1	HP:0100651	Type I diabetes mellitus	HP:0040282	ORPHA:2036
284252	KCTD1	HP:0001072	Thickened skin	1/17	OMIM:181270
284252	KCTD1	HP:0004209	Clinodactyly of the 5th finger	3/19	OMIM:181270
284252	KCTD1	HP:0005580	Duplication of renal pelvis	HP:0040283	ORPHA:2036
284252	KCTD1	HP:0001965	Abnormal scalp morphology	HP:0040281	ORPHA:2036
284252	KCTD1	HP:0000612	Iris coloboma	1/17	OMIM:181270
284252	KCTD1	HP:0000625	Eyelid coloboma	HP:0040283	ORPHA:2036
284252	KCTD1	HP:0000601	Hypotelorism	HP:0040283	OMIM:181270
284252	KCTD1	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:2036
284252	KCTD1	HP:0000652	Lower eyelid coloboma	1/17	OMIM:181270
284252	KCTD1	HP:0011304	Broad thumb	1/19	OMIM:181270
284252	KCTD1	HP:0004322	Short stature	1/17	OMIM:181270
284252	KCTD1	HP:0006956	Lateral ventricle dilatation	1/17	OMIM:181270
284252	KCTD1	HP:0000822	Hypertension	HP:0040282	ORPHA:2036
284252	KCTD1	HP:0000822	Hypertension	7/17	OMIM:181270
284252	KCTD1	HP:0040080	Anteverted ears	8/14	OMIM:181270
284252	KCTD1	HP:0000992	Cutaneous photosensitivity	1/17	OMIM:181270
284252	KCTD1	HP:0000958	Dry skin	2/17	OMIM:181270
284252	KCTD1	HP:0000951	Abnormality of the skin	HP:0040281	ORPHA:2036
284252	KCTD1	HP:0000966	Hypohidrosis	HP:0040283	ORPHA:2036
284252	KCTD1	HP:0000966	Hypohidrosis	6/7	OMIM:181270
284252	KCTD1	HP:0045025	Narrow palpebral fissure	HP:0040284	OMIM:181270
284252	KCTD1	HP:0008070	Sparse hair	HP:0040281	ORPHA:2036
284252	KCTD1	HP:0008070	Sparse hair	HP:0040283	OMIM:181270
284252	KCTD1	HP:0011672	Cardiac myxoma	1/17	OMIM:181270
284252	KCTD1	HP:0000286	Epicanthus	2/17	OMIM:181270
284252	KCTD1	HP:0000385	Small earlobe	HP:0040281	ORPHA:2036
284252	KCTD1	HP:0000385	Small earlobe	-	OMIM:181270
284252	KCTD1	HP:0000378	Cupped ear	-	OMIM:181270
284252	KCTD1	HP:0000396	Overfolded helix	16/19	OMIM:181270
284252	KCTD1	HP:0000358	Posteriorly rotated ears	1/12	OMIM:181270
284252	KCTD1	HP:0000369	Low-set ears	2/12	OMIM:181270
284252	KCTD1	HP:0012330	Pyelonephritis	1/15	OMIM:181270
284252	KCTD1	HP:0012330	Pyelonephritis	HP:0040283	ORPHA:2036
284252	KCTD1	HP:0001635	Congestive heart failure	1/17	OMIM:181270
284252	KCTD1	HP:0000303	Mandibular prognathia	HP:0040283	OMIM:181270
284252	KCTD1	HP:0005280	Depressed nasal bridge	3/17	OMIM:181270
284252	KCTD1	HP:0000463	Anteverted nares	HP:0040283	OMIM:181270
284252	KCTD1	HP:0000411	Protruding ear	-	OMIM:181270
284252	KCTD1	HP:0006709	Aplasia/Hypoplasia of the nipples	21/26	OMIM:181270
284252	KCTD1	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040281	ORPHA:2036
284252	KCTD1	HP:0011272	Underdeveloped tragus	1/12	OMIM:181270
284252	KCTD1	HP:0011272	Underdeveloped tragus	HP:0040281	ORPHA:2036
284252	KCTD1	HP:0000518	Cataract	HP:0040282	ORPHA:2036
284252	KCTD1	HP:0000518	Cataract	1/17	OMIM:181270
284252	KCTD1	HP:0000519	Developmental cataract	HP:0040283	OMIM:181270
284252	KCTD1	HP:0000506	Telecanthus	HP:0040282	ORPHA:2036
284252	KCTD1	HP:0000506	Telecanthus	5/17	OMIM:181270
284252	KCTD1	HP:0011251	Underdeveloped antitragus	1/12	OMIM:181270
284252	KCTD1	HP:0011251	Underdeveloped antitragus	HP:0040281	ORPHA:2036
284252	KCTD1	HP:0000581	Blepharophimosis	HP:0040283	OMIM:181270
284361	EMC10	HP:0025116	Fetal distress	2/2	OMIM:619264
284361	EMC10	HP:0001256	Intellectual disability, mild	2/2	OMIM:619264
284361	EMC10	HP:0001260	Dysarthria	1/2	OMIM:619264
284361	EMC10	HP:0001263	Global developmental delay	2/2	OMIM:619264
284361	EMC10	HP:0001357	Plagiocephaly	1/2	OMIM:619264
284361	EMC10	HP:0000007	Autosomal recessive inheritance	-	OMIM:619264
284361	EMC10	HP:0002007	Frontal bossing	1/2	OMIM:619264
284361	EMC10	HP:0002360	Sleep abnormality	2/2	OMIM:619264
284361	EMC10	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1/2	OMIM:619264
284361	EMC10	HP:0001007	Hirsutism	2/2	OMIM:619264
284361	EMC10	HP:0000639	Nystagmus	2/2	OMIM:619264
284361	EMC10	HP:0000678	Dental crowding	2/2	OMIM:619264
284361	EMC10	HP:0000664	Synophrys	2/2	OMIM:619264
284361	EMC10	HP:0031987	Diminished ability to concentrate	1/2	OMIM:619264
284361	EMC10	HP:0100033	Tics	2/2	OMIM:619264
284361	EMC10	HP:0000739	Anxiety	2/2	OMIM:619264
284361	EMC10	HP:0000750	Delayed speech and language development	2/2	OMIM:619264
284361	EMC10	HP:0011463	Childhood onset	2/2	OMIM:619264
284361	EMC10	HP:0000337	Broad forehead	2/2	OMIM:619264
284361	EMC10	HP:0000325	Triangular face	2/2	OMIM:619264
284382	ACTL9	HP:0000007	Autosomal recessive inheritance	-	OMIM:619258
284382	ACTL9	HP:0032562	Tapered sperm head	3/3	OMIM:619258
284382	ACTL9	HP:0003251	Male infertility	3/3	OMIM:619258
284403	WDR62	HP:0010864	Intellectual disability, severe	7/9	OMIM:604317
284403	WDR62	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:2512
284403	WDR62	HP:0009879	Simplified gyral pattern	2/2	OMIM:604317
284403	WDR62	HP:0001276	Hypertonia	2/9	OMIM:604317
284403	WDR62	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:2512
284403	WDR62	HP:0001270	Motor delay	1/9	OMIM:604317
284403	WDR62	HP:0001269	Hemiparesis	-	OMIM:604317
284403	WDR62	HP:0001285	Spastic tetraparesis	-	OMIM:604317
284403	WDR62	HP:0001250	Seizure	2/38	OMIM:604317
284403	WDR62	HP:0001249	Intellectual disability	29/29	OMIM:604317
284403	WDR62	HP:0001260	Dysarthria	1/9	OMIM:604317
284403	WDR62	HP:0001263	Global developmental delay	9/9	OMIM:604317
284403	WDR62	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2512
284403	WDR62	HP:0007333	Hypoplasia of the frontal lobes	HP:0040282	ORPHA:2512
284403	WDR62	HP:0000076	Vesicoureteral reflux	HP:0040282	ORPHA:2512
284403	WDR62	HP:0001348	Brisk reflexes	1/9	OMIM:604317
284403	WDR62	HP:0001347	Hyperreflexia	-	OMIM:604317
284403	WDR62	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2512
284403	WDR62	HP:0000028	Cryptorchidism	1/9	OMIM:604317
284403	WDR62	HP:0001339	Lissencephaly	-	OMIM:604317
284403	WDR62	HP:0000007	Autosomal recessive inheritance	-	OMIM:604317
284403	WDR62	HP:0001302	Pachygyria	-	OMIM:604317
284403	WDR62	HP:0001302	Pachygyria	HP:0040282	ORPHA:2512
284403	WDR62	HP:0000122	Unilateral renal agenesis	HP:0040282	ORPHA:2512
284403	WDR62	HP:0002069	Bilateral tonic-clonic seizure	1/9	OMIM:604317
284403	WDR62	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:604317
284403	WDR62	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:2512
284403	WDR62	HP:0002126	Polymicrogyria	-	OMIM:604317
284403	WDR62	HP:0002197	Generalized-onset seizure	1/9	OMIM:604317
284403	WDR62	HP:0003593	Infantile onset	8/9	OMIM:604317
284403	WDR62	HP:0002269	Abnormality of neuronal migration	-	OMIM:604317
284403	WDR62	HP:0003577	Congenital onset	29/29	OMIM:604317
284403	WDR62	HP:0100710	Impulsivity	-	OMIM:604317
284403	WDR62	HP:0003551	Difficulty climbing stairs	1/9	OMIM:604317
284403	WDR62	HP:0002282	Gray matter heterotopia	-	OMIM:604317
284403	WDR62	HP:0002282	Gray matter heterotopia	HP:0040281	ORPHA:2512
284403	WDR62	HP:0010636	Schizencephaly	-	OMIM:604317
284403	WDR62	HP:0002342	Intellectual disability, moderate	2/9	OMIM:604317
284403	WDR62	HP:0002353	EEG abnormality	1/9	OMIM:604317
284403	WDR62	HP:0011344	Severe global developmental delay	1/9	OMIM:604317
284403	WDR62	HP:0004322	Short stature	HP:0040281	ORPHA:2512
284403	WDR62	HP:0000752	Hyperactivity	2/9	OMIM:604317
284403	WDR62	HP:0000750	Delayed speech and language development	31/38	OMIM:604317
284403	WDR62	HP:0000742	Self-mutilation	1/9	OMIM:604317
284403	WDR62	HP:0000718	Aggressive behavior	-	OMIM:604317
284403	WDR62	HP:0011463	Childhood onset	1/9	OMIM:604317
284403	WDR62	HP:0003103	Abnormal cortical bone morphology	HP:0040282	ORPHA:2512
284403	WDR62	HP:0000252	Microcephaly	38/38	OMIM:604317
284403	WDR62	HP:0000252	Microcephaly	HP:0040281	ORPHA:2512
284403	WDR62	HP:0000219	Thin upper lip vermilion	HP:0040281	ORPHA:2512
284403	WDR62	HP:0001558	Decreased fetal movement	-	OMIM:604317
284403	WDR62	HP:0001508	Failure to thrive	1/9	OMIM:604317
284403	WDR62	HP:0001510	Growth delay	HP:0040281	ORPHA:2512
284403	WDR62	HP:0000340	Sloping forehead	29/29	OMIM:604317
284403	WDR62	HP:0000340	Sloping forehead	HP:0040281	ORPHA:2512
284403	WDR62	HP:0000347	Micrognathia	2/9	OMIM:604317
284403	WDR62	HP:0001622	Premature birth	1/9	OMIM:604317
284403	WDR62	HP:0002970	Genu varum	1/9	OMIM:604317
284403	WDR62	HP:0000303	Mandibular prognathia	1/9	OMIM:604317
284403	WDR62	HP:0000414	Bulbous nose	1/9	OMIM:604317
284403	WDR62	HP:0000582	Upslanted palpebral fissure	HP:0040281	ORPHA:2512
284439	SLC25A42	HP:0003738	Exercise-induced myalgia	1/1	OMIM:618416
284439	SLC25A42	HP:0003701	Proximal muscle weakness	1/1	OMIM:618416
284439	SLC25A42	HP:0001290	Generalized hypotonia	-	OMIM:618416
284439	SLC25A42	HP:0001270	Motor delay	1/1	OMIM:618416
284439	SLC25A42	HP:0001250	Seizure	HP:0040284	OMIM:618416
284439	SLC25A42	HP:0001251	Ataxia	-	OMIM:618416
284439	SLC25A42	HP:0001266	Choreoathetosis	-	OMIM:618416
284439	SLC25A42	HP:0001260	Dysarthria	1/1	OMIM:618416
284439	SLC25A42	HP:0001263	Global developmental delay	HP:0040284	OMIM:618416
284439	SLC25A42	HP:0025336	Delayed ability to sit	1/1	OMIM:618416
284439	SLC25A42	HP:0001332	Dystonia	-	OMIM:618416
284439	SLC25A42	HP:0000007	Autosomal recessive inheritance	-	OMIM:618416
284439	SLC25A42	HP:0002650	Scoliosis	1/1	OMIM:618416
284439	SLC25A42	HP:0003388	Easy fatigability	1/1	OMIM:618416
284439	SLC25A42	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:618416
284439	SLC25A42	HP:0003593	Infantile onset	1/1	OMIM:618416
284439	SLC25A42	HP:0002359	Frequent falls	1/1	OMIM:618416
284439	SLC25A42	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1/1	OMIM:618416
284439	SLC25A42	HP:0002376	Developmental regression	-	OMIM:618416
284439	SLC25A42	HP:0001987	Hyperammonemia	HP:0040284	OMIM:618416
284439	SLC25A42	HP:0031936	Delayed ability to walk	1/1	OMIM:618416
284439	SLC25A42	HP:0000750	Delayed speech and language development	HP:0040284	OMIM:618416
284439	SLC25A42	HP:0003128	Lactic acidosis	1/1	OMIM:618416
284439	SLC25A42	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:618416
284439	SLC25A42	HP:0003200	Ragged-red muscle fibers	1/1	OMIM:618416
284439	SLC25A42	HP:0003201	Rhabdomyolysis	0/1	OMIM:618416
284439	SLC25A42	HP:0030319	Weakness of facial musculature	1/1	OMIM:618416
284654	RSPO1	HP:0007410	Palmoplantar hyperhidrosis	-	OMIM:610644
284654	RSPO1	HP:0008734	Decreased testicular size	-	OMIM:610644
284654	RSPO1	HP:0008665	Clitoral hypertrophy	-	OMIM:610644
284654	RSPO1	HP:0000062	Ambiguous genitalia	-	OMIM:610644
284654	RSPO1	HP:0000047	Hypospadias	-	OMIM:610644
284654	RSPO1	HP:0000007	Autosomal recessive inheritance	-	OMIM:610644
284654	RSPO1	HP:0012118	Laryngeal carcinoma	-	OMIM:610644
284654	RSPO1	HP:0006357	Premature loss of permanent teeth	-	OMIM:610644
284654	RSPO1	HP:0002155	Hypertriglyceridemia	-	OMIM:610644
284654	RSPO1	HP:0011838	Sclerodactyly	-	OMIM:610644
284654	RSPO1	HP:0008404	Nail dystrophy	-	OMIM:610644
284654	RSPO1	HP:0025080	Orthokeratotic hyperkeratosis	-	OMIM:610644
284654	RSPO1	HP:0000771	Gynecomastia	-	OMIM:610644
284654	RSPO1	HP:0030731	Carcinoma	-	OMIM:610644
284654	RSPO1	HP:0003124	Hypercholesterolemia	-	OMIM:610644
284654	RSPO1	HP:0012861	Ovotestis	-	OMIM:610644
284654	RSPO1	HP:0003241	External genital hypoplasia	-	OMIM:610644
284654	RSPO1	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:85112
284654	RSPO1	HP:0000982	Palmoplantar keratoderma	-	OMIM:610644
284654	RSPO1	HP:0012245	Sex reversal	HP:0040281	ORPHA:85112
284654	RSPO1	HP:0001792	Small nail	-	OMIM:610644
284654	RSPO1	HP:0006739	Squamous cell carcinoma of the skin	HP:0040281	ORPHA:85112
284656	EPHA10	HP:0000006	Autosomal dominant inheritance	-	OMIM:620283
284656	EPHA10	HP:0011462	Young adult onset	-	OMIM:620283
284656	EPHA10	HP:0000365	Hearing impairment	-	OMIM:620283
285025	CCDC141	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
285025	CCDC141	HP:0001250	Seizure	HP:0040283	ORPHA:478
285025	CCDC141	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
285025	CCDC141	HP:0001251	Ataxia	HP:0040283	ORPHA:478
285025	CCDC141	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
285025	CCDC141	HP:0008734	Decreased testicular size	1/1	OMIM:146110
285025	CCDC141	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
285025	CCDC141	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
285025	CCDC141	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
285025	CCDC141	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
285025	CCDC141	HP:0000054	Micropenis	1/1	OMIM:146110
285025	CCDC141	HP:0000054	Micropenis	HP:0040281	ORPHA:478
285025	CCDC141	HP:0000028	Cryptorchidism	-	OMIM:146110
285025	CCDC141	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
285025	CCDC141	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
285025	CCDC141	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
285025	CCDC141	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
285025	CCDC141	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
285025	CCDC141	HP:0001337	Tremor	HP:0040283	ORPHA:478
285025	CCDC141	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
285025	CCDC141	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
285025	CCDC141	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
285025	CCDC141	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
285025	CCDC141	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
285025	CCDC141	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
285025	CCDC141	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
285025	CCDC141	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
285025	CCDC141	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
285025	CCDC141	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
285025	CCDC141	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
285025	CCDC141	HP:0003621	Juvenile onset	2/2	OMIM:146110
285025	CCDC141	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
285025	CCDC141	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
285025	CCDC141	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
285025	CCDC141	HP:0000771	Gynecomastia	0/1	OMIM:146110
285025	CCDC141	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
285025	CCDC141	HP:0000789	Infertility	HP:0040283	OMIM:146110
285025	CCDC141	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
285025	CCDC141	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
285025	CCDC141	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
285025	CCDC141	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
285025	CCDC141	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
285025	CCDC141	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
285025	CCDC141	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
285025	CCDC141	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
285025	CCDC141	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
285025	CCDC141	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
285025	CCDC141	HP:0001513	Obesity	HP:0040283	ORPHA:478
285025	CCDC141	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
285025	CCDC141	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
285025	CCDC141	HP:0000458	Anosmia	HP:0040281	ORPHA:478
285025	CCDC141	HP:0001763	Pes planus	HP:0040283	ORPHA:478
285025	CCDC141	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
285025	CCDC141	HP:0000508	Ptosis	HP:0040283	ORPHA:478
285025	CCDC141	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
285025	CCDC141	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
285175	UNC80	HP:0001182	Tapered finger	-	OMIM:616801
285175	UNC80	HP:0002465	Poor speech	-	OMIM:616801
285175	UNC80	HP:0001290	Generalized hypotonia	-	OMIM:616801
285175	UNC80	HP:0001276	Hypertonia	-	OMIM:616801
285175	UNC80	HP:0001250	Seizure	HP:0040283	OMIM:616801
285175	UNC80	HP:0001257	Spasticity	-	OMIM:616801
285175	UNC80	HP:0002540	Inability to walk	-	OMIM:616801
285175	UNC80	HP:0001357	Plagiocephaly	-	OMIM:616801
285175	UNC80	HP:0001344	Absent speech	4/4	OMIM:616801
285175	UNC80	HP:0000007	Autosomal recessive inheritance	-	OMIM:616801
285175	UNC80	HP:0002650	Scoliosis	HP:0040283	OMIM:616801
285175	UNC80	HP:0000194	Open mouth	-	OMIM:616801
285175	UNC80	HP:0002019	Constipation	-	OMIM:616801
285175	UNC80	HP:0002007	Frontal bossing	-	OMIM:616801
285175	UNC80	HP:0002079	Hypoplasia of the corpus callosum	1/4	OMIM:616801
285175	UNC80	HP:0002059	Cerebral atrophy	HP:0040283	OMIM:616801
285175	UNC80	HP:0002187	Intellectual disability, profound	-	OMIM:616801
285175	UNC80	HP:0002283	Global brain atrophy	-	OMIM:616801
285175	UNC80	HP:0011968	Feeding difficulties	-	OMIM:616801
285175	UNC80	HP:0007069	Profound static encephalopathy	-	OMIM:616801
285175	UNC80	HP:0100660	Dyskinesia	HP:0040283	OMIM:616801
285175	UNC80	HP:0000639	Nystagmus	-	OMIM:616801
285175	UNC80	HP:0011344	Severe global developmental delay	-	OMIM:616801
285175	UNC80	HP:0004326	Cachexia	6/6	OMIM:616801
285175	UNC80	HP:0012736	Profound global developmental delay	6/6	OMIM:616801
285175	UNC80	HP:0003273	Hip contracture	HP:0040283	OMIM:616801
285175	UNC80	HP:0000938	Osteopenia	-	OMIM:616801
285175	UNC80	HP:0000286	Epicanthus	-	OMIM:616801
285175	UNC80	HP:0000297	Facial hypotonia	4/4	OMIM:616801
285175	UNC80	HP:0000252	Microcephaly	3/6	OMIM:616801
285175	UNC80	HP:0000248	Brachycephaly	-	OMIM:616801
285175	UNC80	HP:0000219	Thin upper lip vermilion	-	OMIM:616801
285175	UNC80	HP:0001531	Failure to thrive in infancy	-	OMIM:616801
285175	UNC80	HP:0001511	Intrauterine growth retardation	HP:0040283	OMIM:616801
285175	UNC80	HP:0012389	Appendicular hypotonia	6/6	OMIM:616801
285175	UNC80	HP:0000358	Posteriorly rotated ears	-	OMIM:616801
285175	UNC80	HP:0000369	Low-set ears	-	OMIM:616801
285175	UNC80	HP:0000337	Broad forehead	-	OMIM:616801
285175	UNC80	HP:0000348	High forehead	-	OMIM:616801
285175	UNC80	HP:0000319	Smooth philtrum	-	OMIM:616801
285175	UNC80	HP:0000322	Short philtrum	-	OMIM:616801
285175	UNC80	HP:0000325	Triangular face	-	OMIM:616801
285175	UNC80	HP:0000494	Downslanted palpebral fissures	HP:0040283	OMIM:616801
285175	UNC80	HP:0000463	Anteverted nares	-	OMIM:616801
285175	UNC80	HP:0000470	Short neck	-	OMIM:616801
285175	UNC80	HP:0000448	Prominent nose	-	OMIM:616801
285175	UNC80	HP:0000414	Bulbous nose	-	OMIM:616801
285175	UNC80	HP:0000426	Prominent nasal bridge	-	OMIM:616801
285175	UNC80	HP:0000508	Ptosis	-	OMIM:616801
285175	UNC80	HP:0011220	Prominent forehead	-	OMIM:616801
285175	UNC80	HP:0000565	Esotropia	3/4	OMIM:616801
285203	EOGT	HP:0001171	Split hand	HP:0040282	ORPHA:974
285203	EOGT	HP:0001156	Brachydactyly	HP:0040282	ORPHA:974
285203	EOGT	HP:0009882	Short distal phalanx of finger	HP:0040282	ORPHA:974
285203	EOGT	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
285203	EOGT	HP:0001293	Cranial nerve compression	-	OMIM:131300
285203	EOGT	HP:0001276	Hypertonia	HP:0040283	ORPHA:974
285203	EOGT	HP:0001269	Hemiparesis	HP:0040283	ORPHA:974
285203	EOGT	HP:0001250	Seizure	HP:0040283	ORPHA:974
285203	EOGT	HP:0001252	Hypotonia	2/7	OMIM:615777
285203	EOGT	HP:0001249	Intellectual disability	HP:0040283	ORPHA:974
285203	EOGT	HP:0001249	Intellectual disability	5/7	OMIM:615777
285203	EOGT	HP:0001263	Global developmental delay	-	OMIM:615777
285203	EOGT	HP:0006101	Finger syndactyly	HP:0040282	ORPHA:974
285203	EOGT	HP:0002515	Waddling gait	54/102	OMIM:131300
285203	EOGT	HP:0001394	Cirrhosis	HP:0040283	ORPHA:974
285203	EOGT	HP:0001382	Joint hypermobility	-	OMIM:615777
285203	EOGT	HP:0002694	Sclerosis of skull base	-	OMIM:131300
285203	EOGT	HP:0001362	Calvarial skull defect	HP:0040281	ORPHA:974
285203	EOGT	HP:0008897	Postnatal growth retardation	-	OMIM:615777
285203	EOGT	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
285203	EOGT	HP:0001324	Muscle weakness	40/96	OMIM:131300
285203	EOGT	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
285203	EOGT	HP:0000007	Autosomal recessive inheritance	-	OMIM:615297
285203	EOGT	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
285203	EOGT	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
285203	EOGT	HP:0002650	Scoliosis	12/14	OMIM:131300
285203	EOGT	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
285203	EOGT	HP:0002612	Congenital hepatic fibrosis	HP:0040283	ORPHA:974
285203	EOGT	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
285203	EOGT	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
285203	EOGT	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
285203	EOGT	HP:0000175	Cleft palate	2/7	OMIM:615777
285203	EOGT	HP:0001409	Portal hypertension	HP:0040283	ORPHA:974
285203	EOGT	HP:0002084	Encephalocele	HP:0040283	ORPHA:974
285203	EOGT	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:974
285203	EOGT	HP:0002040	Esophageal varix	HP:0040283	ORPHA:974
285203	EOGT	HP:0003388	Easy fatigability	36/76	OMIM:131300
285203	EOGT	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
285203	EOGT	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:974
285203	EOGT	HP:0002132	Porencephalic cyst	HP:0040283	ORPHA:974
285203	EOGT	HP:0003577	Congenital onset	5/5	OMIM:615297
285203	EOGT	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:974
285203	EOGT	HP:0100797	Toenail dysplasia	2/5	OMIM:615297
285203	EOGT	HP:0010645	Aplasia of the distal phalanges of the toes	2/5	OMIM:615297
285203	EOGT	HP:0010624	Aplastic/hypoplastic toenail	HP:0040283	ORPHA:974
285203	EOGT	HP:0003510	Severe short stature	7/7	OMIM:615777
285203	EOGT	HP:0001057	Aplasia cutis congenita	5/5	OMIM:615297
285203	EOGT	HP:0001057	Aplasia cutis congenita	HP:0040281	ORPHA:974
285203	EOGT	HP:0002353	EEG abnormality	HP:0040283	ORPHA:974
285203	EOGT	HP:0002315	Headache	-	OMIM:131300
285203	EOGT	HP:0004976	Knee dislocation	6/7	OMIM:615777
285203	EOGT	HP:0009803	Short phalanx of finger	-	OMIM:615777
285203	EOGT	HP:0010760	Absent toe	HP:0040281	ORPHA:974
285203	EOGT	HP:0009763	Limb pain	63/92	OMIM:131300
285203	EOGT	HP:0004935	Pulmonary artery atresia	HP:0040282	ORPHA:974
285203	EOGT	HP:0003621	Juvenile onset	-	OMIM:131300
285203	EOGT	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
285203	EOGT	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
285203	EOGT	HP:6001056	Out-toeing	-	OMIM:131300
285203	EOGT	HP:0000651	Diplopia	-	OMIM:131300
285203	EOGT	HP:0001956	Truncal obesity	2/7	OMIM:615777
285203	EOGT	HP:0001903	Anemia	HP:0040283	OMIM:131300
285203	EOGT	HP:0010049	Short metacarpal	-	OMIM:615777
285203	EOGT	HP:0000678	Dental crowding	-	OMIM:615777
285203	EOGT	HP:0000670	Carious teeth	-	OMIM:131300
285203	EOGT	HP:0011304	Broad thumb	2/7	OMIM:615777
285203	EOGT	HP:0000668	Hypodontia	-	OMIM:615777
285203	EOGT	HP:0000664	Synophrys	-	OMIM:615777
285203	EOGT	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:974
285203	EOGT	HP:0004396	Poor appetite	-	OMIM:131300
285203	EOGT	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
285203	EOGT	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
285203	EOGT	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
285203	EOGT	HP:0003026	Short long bone	7/7	OMIM:615777
285203	EOGT	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
285203	EOGT	HP:0000767	Pectus excavatum	2/7	OMIM:615777
285203	EOGT	HP:0000768	Pectus carinatum	1/7	OMIM:615777
285203	EOGT	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
285203	EOGT	HP:0100026	Arteriovenous malformation	HP:0040283	ORPHA:974
285203	EOGT	HP:0000750	Delayed speech and language development	-	OMIM:615777
285203	EOGT	HP:0011461	Fetal onset	7/7	OMIM:615777
285203	EOGT	HP:0000774	Narrow chest	2/7	OMIM:615777
285203	EOGT	HP:0000926	Platyspondyly	1/7	OMIM:615777
285203	EOGT	HP:0003180	Flat acetabular roof	-	OMIM:615777
285203	EOGT	HP:0004482	Relative macrocephaly	-	OMIM:615777
285203	EOGT	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
285203	EOGT	HP:0100381	Absent middle phalanx of the 3rd toe	1/5	OMIM:615297
285203	EOGT	HP:0100382	Aplasia of the middle phalanx of the 4th toe	1/5	OMIM:615297
285203	EOGT	HP:0000823	Delayed puberty	-	OMIM:131300
285203	EOGT	HP:0000894	Short clavicles	-	OMIM:615777
285203	EOGT	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
285203	EOGT	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
285203	EOGT	HP:0000965	Cutis marmorata	HP:0040281	ORPHA:974
285203	EOGT	HP:0000965	Cutis marmorata	1/5	OMIM:615297
285203	EOGT	HP:0008070	Sparse hair	HP:0040281	ORPHA:974
285203	EOGT	HP:0008065	Aplasia/Hypoplasia of the skin	HP:0040281	ORPHA:974
285203	EOGT	HP:0000286	Epicanthus	1/7	OMIM:615777
285203	EOGT	HP:0000280	Coarse facial features	2/7	OMIM:615777
285203	EOGT	HP:0001596	Alopecia	HP:0040283	ORPHA:974
285203	EOGT	HP:0002817	Abnormality of the upper limb	HP:0040281	ORPHA:974
285203	EOGT	HP:0002814	Abnormality of the lower limb	HP:0040281	ORPHA:974
285203	EOGT	HP:0002827	Hip dislocation	3/7	OMIM:615777
285203	EOGT	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:974
285203	EOGT	HP:0000252	Microcephaly	-	OMIM:615777
285203	EOGT	HP:0002857	Genu valgum	-	OMIM:131300
285203	EOGT	HP:0001541	Ascites	HP:0040283	ORPHA:974
285203	EOGT	HP:0001537	Umbilical hernia	2/5	OMIM:615297
285203	EOGT	HP:0001533	Slender build	-	OMIM:131300
285203	EOGT	HP:0001508	Failure to thrive	HP:0040281	ORPHA:974
285203	EOGT	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
285203	EOGT	HP:0007807	Optic nerve compression	-	OMIM:131300
285203	EOGT	HP:0012368	Flat face	7/7	OMIM:615777
285203	EOGT	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
285203	EOGT	HP:0000365	Hearing impairment	10/67	OMIM:131300
285203	EOGT	HP:0000343	Long philtrum	1/7	OMIM:615777
285203	EOGT	HP:0011001	Increased bone mineral density	-	OMIM:131300
285203	EOGT	HP:0001643	Patent ductus arteriosus	1/5	OMIM:615297
285203	EOGT	HP:0000311	Round face	2/7	OMIM:615777
285203	EOGT	HP:0001629	Ventricular septal defect	1/5	OMIM:615297
285203	EOGT	HP:0001622	Premature birth	HP:0040283	ORPHA:974
285203	EOGT	HP:0001641	Abnormal pulmonary valve morphology	HP:0040282	ORPHA:974
285203	EOGT	HP:0002970	Genu varum	-	OMIM:615777
285203	EOGT	HP:0001636	Tetralogy of Fallot	HP:0040282	ORPHA:974
285203	EOGT	HP:0001631	Atrial septal defect	1/5	OMIM:615297
285203	EOGT	HP:0000303	Mandibular prognathia	-	OMIM:131300
285203	EOGT	HP:0004050	Absent hand	HP:0040281	ORPHA:974
285203	EOGT	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
285203	EOGT	HP:0000486	Strabismus	HP:0040282	ORPHA:974
285203	EOGT	HP:0000470	Short neck	1/7	OMIM:615777
285203	EOGT	HP:0001769	Broad foot	HP:0040283	OMIM:615777
285203	EOGT	HP:0001763	Pes planus	1/7	OMIM:615777
285203	EOGT	HP:0000518	Cataract	HP:0040282	ORPHA:974
285203	EOGT	HP:0001840	Metatarsus adductus	-	OMIM:615777
285203	EOGT	HP:0000520	Proptosis	2/4	OMIM:131300
285203	EOGT	HP:0000520	Proptosis	7/7	OMIM:615777
285203	EOGT	HP:0001831	Short toe	1/5	OMIM:615297
285203	EOGT	HP:0001804	Hypoplastic fingernail	HP:0040283	ORPHA:974
285203	EOGT	HP:0001800	Hypoplastic toenails	2/5	OMIM:615297
285203	EOGT	HP:0001817	Absent fingernail	HP:0040283	ORPHA:974
285203	EOGT	HP:0000592	Blue sclerae	2/7	OMIM:615777
285203	EOGT	HP:0000568	Microphthalmia	0/5	OMIM:615297
285203	EOGT	HP:0000568	Microphthalmia	HP:0040282	ORPHA:974
285203	EOGT	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
285203	EOGT	HP:0001883	Talipes	HP:0040282	ORPHA:974
285203	EOGT	HP:0001882	Decreased total leukocyte count	HP:0040283	ORPHA:974
285203	EOGT	HP:0012514	Lower limb pain	4/4	OMIM:131300
285203	EOGT	HP:0001873	Thrombocytopenia	HP:0040283	ORPHA:974
285282	RABL3	HP:0025318	Ovarian carcinoma	HP:0040283	ORPHA:1333
285282	RABL3	HP:0000006	Autosomal dominant inheritance	-	OMIM:618680
285282	RABL3	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:1333
285282	RABL3	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:1333
285282	RABL3	HP:0002017	Nausea and vomiting	HP:0040283	ORPHA:1333
285282	RABL3	HP:0002027	Abdominal pain	HP:0040281	ORPHA:1333
285282	RABL3	HP:0002039	Anorexia	HP:0040281	ORPHA:1333
285282	RABL3	HP:0100592	Peritoneal abscess	HP:0040283	ORPHA:1333
285282	RABL3	HP:0003418	Back pain	HP:0040281	ORPHA:1333
285282	RABL3	HP:0002254	Intermittent diarrhea	HP:0040283	ORPHA:1333
285282	RABL3	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:1333
285282	RABL3	HP:0003003	Colon cancer	HP:0040283	ORPHA:1333
285282	RABL3	HP:0004389	Intestinal pseudo-obstruction	HP:0040282	ORPHA:1333
285282	RABL3	HP:0004396	Poor appetite	HP:0040281	ORPHA:1333
285282	RABL3	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:1333
285282	RABL3	HP:0000952	Jaundice	HP:0040282	ORPHA:1333
285282	RABL3	HP:0002896	Neoplasm of the liver	HP:0040283	ORPHA:1333
285282	RABL3	HP:0002861	Melanoma	-	OMIM:618680
285282	RABL3	HP:0002861	Melanoma	HP:0040283	ORPHA:1333
285282	RABL3	HP:0005249	Functional intestinal obstruction	HP:0040282	ORPHA:1333
285282	RABL3	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:1333
285282	RABL3	HP:0012334	Extrahepatic cholestasis	HP:0040282	ORPHA:1333
285282	RABL3	HP:0001738	Exocrine pancreatic insufficiency	HP:0040281	ORPHA:1333
285282	RABL3	HP:0012432	Chronic fatigue	HP:0040281	ORPHA:1333
285282	RABL3	HP:0006725	Pancreatic adenocarcinoma	-	OMIM:618680
285282	RABL3	HP:0006725	Pancreatic adenocarcinoma	HP:0040280	ORPHA:1333
285282	RABL3	HP:0001824	Weight loss	HP:0040281	ORPHA:1333
285362	SUMF1	HP:0007307	Rapid neurologic deterioration	HP:0040281	ORPHA:585
285362	SUMF1	HP:0007307	Rapid neurologic deterioration	-	OMIM:272200
285362	SUMF1	HP:0007305	CNS demyelination	-	OMIM:272200
285362	SUMF1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
285362	SUMF1	HP:0001293	Cranial nerve compression	-	OMIM:131300
285362	SUMF1	HP:0001272	Cerebellar atrophy	-	OMIM:272200
285362	SUMF1	HP:0001250	Seizure	HP:0040282	ORPHA:585
285362	SUMF1	HP:0001252	Hypotonia	2/7	OMIM:615777
285362	SUMF1	HP:0001251	Ataxia	-	OMIM:272200
285362	SUMF1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:585
285362	SUMF1	HP:0001249	Intellectual disability	-	OMIM:272200
285362	SUMF1	HP:0001249	Intellectual disability	5/7	OMIM:615777
285362	SUMF1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:585
285362	SUMF1	HP:0001263	Global developmental delay	-	OMIM:272200
285362	SUMF1	HP:0001263	Global developmental delay	-	OMIM:615777
285362	SUMF1	HP:0001257	Spasticity	-	OMIM:272200
285362	SUMF1	HP:0002518	Abnormal periventricular white matter morphology	-	OMIM:272200
285362	SUMF1	HP:0002515	Waddling gait	54/102	OMIM:131300
285362	SUMF1	HP:0001387	Joint stiffness	HP:0040282	ORPHA:585
285362	SUMF1	HP:0001382	Joint hypermobility	-	OMIM:615777
285362	SUMF1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
285362	SUMF1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
285362	SUMF1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
285362	SUMF1	HP:0001324	Muscle weakness	40/96	OMIM:131300
285362	SUMF1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
285362	SUMF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
285362	SUMF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:272200
285362	SUMF1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
285362	SUMF1	HP:0002650	Scoliosis	12/14	OMIM:131300
285362	SUMF1	HP:0001319	Neonatal hypotonia	-	OMIM:272200
285362	SUMF1	HP:0001319	Neonatal hypotonia	HP:0040281	ORPHA:585
285362	SUMF1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
285362	SUMF1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
285362	SUMF1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
285362	SUMF1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
285362	SUMF1	HP:0000175	Cleft palate	2/7	OMIM:615777
285362	SUMF1	HP:0002003	Large forehead	-	OMIM:272200
285362	SUMF1	HP:0100539	Periorbital edema	-	OMIM:272200
285362	SUMF1	HP:0002059	Cerebral atrophy	-	OMIM:272200
285362	SUMF1	HP:0003388	Easy fatigability	36/76	OMIM:131300
285362	SUMF1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
285362	SUMF1	HP:0008155	Mucopolysacchariduria	HP:0040281	ORPHA:585
285362	SUMF1	HP:0008155	Mucopolysacchariduria	-	OMIM:272200
285362	SUMF1	HP:0002119	Ventriculomegaly	-	OMIM:272200
285362	SUMF1	HP:0002240	Hepatomegaly	-	OMIM:272200
285362	SUMF1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:585
285362	SUMF1	HP:0002208	Coarse hair	HP:0040282	ORPHA:585
285362	SUMF1	HP:0003510	Severe short stature	7/7	OMIM:615777
285362	SUMF1	HP:0002395	Lower limb hyperreflexia	-	OMIM:272200
285362	SUMF1	HP:0002376	Developmental regression	HP:0040281	ORPHA:585
285362	SUMF1	HP:0002315	Headache	-	OMIM:131300
285362	SUMF1	HP:0004976	Knee dislocation	6/7	OMIM:615777
285362	SUMF1	HP:0009803	Short phalanx of finger	-	OMIM:615777
285362	SUMF1	HP:0008479	Hypoplastic vertebral bodies	-	OMIM:272200
285362	SUMF1	HP:0009763	Limb pain	63/92	OMIM:131300
285362	SUMF1	HP:0003621	Juvenile onset	-	OMIM:131300
285362	SUMF1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
285362	SUMF1	HP:0010059	Broad hallux phalanx	HP:0040282	ORPHA:585
285362	SUMF1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
285362	SUMF1	HP:6001056	Out-toeing	-	OMIM:131300
285362	SUMF1	HP:0000651	Diplopia	-	OMIM:131300
285362	SUMF1	HP:0000648	Optic atrophy	HP:0040282	ORPHA:585
285362	SUMF1	HP:0001956	Truncal obesity	2/7	OMIM:615777
285362	SUMF1	HP:0001903	Anemia	HP:0040283	OMIM:131300
285362	SUMF1	HP:0010049	Short metacarpal	-	OMIM:615777
285362	SUMF1	HP:0010055	Broad hallux	-	OMIM:272200
285362	SUMF1	HP:0000678	Dental crowding	-	OMIM:615777
285362	SUMF1	HP:0000670	Carious teeth	-	OMIM:131300
285362	SUMF1	HP:0011304	Broad thumb	2/7	OMIM:615777
285362	SUMF1	HP:0011304	Broad thumb	-	OMIM:272200
285362	SUMF1	HP:0011304	Broad thumb	HP:0040282	ORPHA:585
285362	SUMF1	HP:0000668	Hypodontia	-	OMIM:615777
285362	SUMF1	HP:0000664	Synophrys	-	OMIM:615777
285362	SUMF1	HP:0004322	Short stature	HP:0040282	ORPHA:585
285362	SUMF1	HP:0004322	Short stature	-	OMIM:272200
285362	SUMF1	HP:0004396	Poor appetite	-	OMIM:131300
285362	SUMF1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
285362	SUMF1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
285362	SUMF1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
285362	SUMF1	HP:0003026	Short long bone	7/7	OMIM:615777
285362	SUMF1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
285362	SUMF1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
285362	SUMF1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
285362	SUMF1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
285362	SUMF1	HP:0000750	Delayed speech and language development	-	OMIM:615777
285362	SUMF1	HP:0011461	Fetal onset	7/7	OMIM:615777
285362	SUMF1	HP:0000774	Narrow chest	2/7	OMIM:615777
285362	SUMF1	HP:0000926	Platyspondyly	1/7	OMIM:615777
285362	SUMF1	HP:0003180	Flat acetabular roof	-	OMIM:615777
285362	SUMF1	HP:0004482	Relative macrocephaly	-	OMIM:615777
285362	SUMF1	HP:0003134	Abnormality of peripheral nerve conduction	HP:0040281	ORPHA:585
285362	SUMF1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
285362	SUMF1	HP:0000823	Delayed puberty	-	OMIM:131300
285362	SUMF1	HP:0000894	Short clavicles	-	OMIM:615777
285362	SUMF1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
285362	SUMF1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
285362	SUMF1	HP:0000943	Dysostosis multiplex	-	OMIM:272200
285362	SUMF1	HP:0008064	Ichthyosis	-	OMIM:272200
285362	SUMF1	HP:0008064	Ichthyosis	HP:0040281	ORPHA:585
285362	SUMF1	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:585
285362	SUMF1	HP:0000286	Epicanthus	1/7	OMIM:615777
285362	SUMF1	HP:0000280	Coarse facial features	-	OMIM:272200
285362	SUMF1	HP:0000280	Coarse facial features	HP:0040282	ORPHA:585
285362	SUMF1	HP:0000280	Coarse facial features	2/7	OMIM:615777
285362	SUMF1	HP:0000256	Macrocephaly	HP:0040282	ORPHA:585
285362	SUMF1	HP:0002827	Hip dislocation	3/7	OMIM:615777
285362	SUMF1	HP:0000238	Hydrocephalus	-	OMIM:272200
285362	SUMF1	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:585
285362	SUMF1	HP:0000252	Microcephaly	HP:0040283	ORPHA:585
285362	SUMF1	HP:0000252	Microcephaly	-	OMIM:615777
285362	SUMF1	HP:0002857	Genu valgum	-	OMIM:131300
285362	SUMF1	HP:0001533	Slender build	-	OMIM:131300
285362	SUMF1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
285362	SUMF1	HP:0011096	Peripheral demyelination	-	OMIM:272200
285362	SUMF1	HP:0007807	Optic nerve compression	-	OMIM:131300
285362	SUMF1	HP:0012368	Flat face	7/7	OMIM:615777
285362	SUMF1	HP:0012368	Flat face	-	OMIM:272200
285362	SUMF1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
285362	SUMF1	HP:0002922	Increased CSF protein concentration	-	OMIM:272200
285362	SUMF1	HP:0000365	Hearing impairment	-	OMIM:272200
285362	SUMF1	HP:0000365	Hearing impairment	10/67	OMIM:131300
285362	SUMF1	HP:0000343	Long philtrum	1/7	OMIM:615777
285362	SUMF1	HP:0011001	Increased bone mineral density	-	OMIM:131300
285362	SUMF1	HP:0000319	Smooth philtrum	HP:0040282	ORPHA:585
285362	SUMF1	HP:0000311	Round face	2/7	OMIM:615777
285362	SUMF1	HP:0002970	Genu varum	-	OMIM:615777
285362	SUMF1	HP:0000303	Mandibular prognathia	-	OMIM:131300
285362	SUMF1	HP:0007957	Corneal opacity	HP:0040282	OMIM:272200
285362	SUMF1	HP:0007957	Corneal opacity	HP:0040282	ORPHA:585
285362	SUMF1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:585
285362	SUMF1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:585
285362	SUMF1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
285362	SUMF1	HP:0000463	Anteverted nares	-	OMIM:272200
285362	SUMF1	HP:0000463	Anteverted nares	HP:0040282	ORPHA:585
285362	SUMF1	HP:0000470	Short neck	1/7	OMIM:615777
285362	SUMF1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
285362	SUMF1	HP:0001763	Pes planus	1/7	OMIM:615777
285362	SUMF1	HP:0001744	Splenomegaly	-	OMIM:272200
285362	SUMF1	HP:0001744	Splenomegaly	HP:0040281	ORPHA:585
285362	SUMF1	HP:0000518	Cataract	HP:0040282	ORPHA:585
285362	SUMF1	HP:0001840	Metatarsus adductus	-	OMIM:615777
285362	SUMF1	HP:0000520	Proptosis	2/4	OMIM:131300
285362	SUMF1	HP:0000520	Proptosis	7/7	OMIM:615777
285362	SUMF1	HP:0000505	Visual impairment	HP:0040281	ORPHA:585
285362	SUMF1	HP:0000592	Blue sclerae	2/7	OMIM:615777
285362	SUMF1	HP:0011220	Prominent forehead	-	OMIM:272200
285362	SUMF1	HP:0000574	Thick eyebrow	HP:0040282	ORPHA:585
285362	SUMF1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
285362	SUMF1	HP:0012514	Lower limb pain	4/4	OMIM:131300
285362	SUMF1	HP:0000546	Retinal degeneration	-	OMIM:272200
285440	CYP4V2	HP:0001133	Constriction of peripheral visual field	HP:0040282	ORPHA:41751
285440	CYP4V2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
285440	CYP4V2	HP:0001133	Constriction of peripheral visual field	-	OMIM:210370
285440	CYP4V2	HP:0001129	Large central visual field defect	HP:0040283	ORPHA:41751
285440	CYP4V2	HP:0001141	Severely reduced visual acuity	HP:0040283	ORPHA:41751
285440	CYP4V2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
285440	CYP4V2	HP:0000007	Autosomal recessive inheritance	-	OMIM:210370
285440	CYP4V2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
285440	CYP4V2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
285440	CYP4V2	HP:0007675	Progressive night blindness	-	OMIM:210370
285440	CYP4V2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
285440	CYP4V2	HP:0007663	Reduced visual acuity	9/11	OMIM:210370
285440	CYP4V2	HP:0200065	Chorioretinal degeneration	HP:0040282	ORPHA:41751
285440	CYP4V2	HP:0003621	Juvenile onset	8/19	OMIM:180100
285440	CYP4V2	HP:0030528	Paracentral scotoma	HP:0040283	ORPHA:41751
285440	CYP4V2	HP:0030528	Paracentral scotoma	-	OMIM:210370
285440	CYP4V2	HP:0000618	Blindness	HP:0040283	ORPHA:41751
285440	CYP4V2	HP:0000603	Central scotoma	HP:0040283	ORPHA:41751
285440	CYP4V2	HP:0030491	Choriocapillaris atrophy	HP:0040282	ORPHA:41751
285440	CYP4V2	HP:0000662	Nyctalopia	HP:0040282	ORPHA:41751
285440	CYP4V2	HP:0000662	Nyctalopia	26/28	OMIM:180100
285440	CYP4V2	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	HP:0040282	ORPHA:41751
285440	CYP4V2	HP:0011463	Childhood onset	3/19	OMIM:180100
285440	CYP4V2	HP:0011462	Young adult onset	8/19	OMIM:180100
285440	CYP4V2	HP:0011505	Cystoid macular edema	HP:0040283	ORPHA:41751
285440	CYP4V2	HP:0007722	Retinal pigment epithelial atrophy	HP:0040282	ORPHA:41751
285440	CYP4V2	HP:0007760	Crystalline corneal dystrophy	HP:0040282	ORPHA:41751
285440	CYP4V2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
285440	CYP4V2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
285440	CYP4V2	HP:0007814	Retinal pigment epithelial mottling	HP:0040283	ORPHA:41751
285440	CYP4V2	HP:0031528	Subretinal deposits	HP:0040282	ORPHA:41751
285440	CYP4V2	HP:0007880	Marginal corneal dystrophy	-	OMIM:210370
285440	CYP4V2	HP:0011003	High myopia	HP:0040283	OMIM:210370
285440	CYP4V2	HP:0030329	Retinal thinning	HP:0040283	ORPHA:41751
285440	CYP4V2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
285440	CYP4V2	HP:0000529	Progressive visual loss	-	OMIM:210370
285440	CYP4V2	HP:0000505	Visual impairment	HP:0040282	ORPHA:41751
285440	CYP4V2	HP:0000580	Pigmentary retinopathy	HP:0040283	ORPHA:41751
285440	CYP4V2	HP:0000575	Scotoma	5/18	OMIM:180100
285440	CYP4V2	HP:0000531	Corneal crystals	8/11	OMIM:210370
285440	CYP4V2	HP:0000533	Chorioretinal atrophy	-	OMIM:210370
285440	CYP4V2	HP:0000551	Color vision defect	HP:0040283	ORPHA:41751
285440	CYP4V2	HP:0000546	Retinal degeneration	-	OMIM:210370
285440	CYP4V2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
285440	CYP4V2	HP:0000545	Myopia	-	OMIM:180100
285489	DOK7	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:98913
285489	DOK7	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:994
285489	DOK7	HP:0001283	Bulbar palsy	-	OMIM:254300
285489	DOK7	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:994
285489	DOK7	HP:0007430	Generalized edema	-	OMIM:618389
285489	DOK7	HP:0002515	Waddling gait	-	OMIM:254300
285489	DOK7	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:98913
285489	DOK7	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:994
285489	DOK7	HP:0410011	Abnormality of masticatory muscle	HP:0040282	ORPHA:98913
285489	DOK7	HP:0001324	Muscle weakness	HP:0040282	ORPHA:98913
285489	DOK7	HP:0000007	Autosomal recessive inheritance	-	OMIM:618389
285489	DOK7	HP:0000007	Autosomal recessive inheritance	-	OMIM:254300
285489	DOK7	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:994
285489	DOK7	HP:0002650	Scoliosis	HP:0040282	ORPHA:994
285489	DOK7	HP:0002650	Scoliosis	HP:0040283	ORPHA:98913
285489	DOK7	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:98913
285489	DOK7	HP:0031108	Triceps weakness	HP:0040283	ORPHA:98913
285489	DOK7	HP:0000175	Cleft palate	HP:0040282	ORPHA:994
285489	DOK7	HP:0001446	Abnormality of the musculature of the upper limbs	HP:0040282	ORPHA:98913
285489	DOK7	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:98913
285489	DOK7	HP:0002792	Reduced vital capacity	4/10	OMIM:254300
285489	DOK7	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:254300
285489	DOK7	HP:0003327	Axial muscle weakness	16/18	OMIM:254300
285489	DOK7	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:994
285489	DOK7	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:994
285489	DOK7	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:98913
285489	DOK7	HP:0003394	Muscle spasm	-	OMIM:254300
285489	DOK7	HP:0003391	Gowers sign	-	OMIM:254300
285489	DOK7	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98913
285489	DOK7	HP:0003388	Easy fatigability	-	OMIM:254300
285489	DOK7	HP:0008180	Mildly elevated creatine kinase	-	OMIM:254300
285489	DOK7	HP:0010489	Absent palmar crease	HP:0040281	ORPHA:994
285489	DOK7	HP:0003473	Fatigable weakness	-	OMIM:254300
285489	DOK7	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:98913
285489	DOK7	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98913
285489	DOK7	HP:0003443	Decreased size of nerve terminals	HP:0040282	ORPHA:98913
285489	DOK7	HP:0003402	Decreased miniature endplate potentials	HP:0040282	ORPHA:98913
285489	DOK7	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040282	ORPHA:98913
285489	DOK7	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:98913
285489	DOK7	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:994
285489	DOK7	HP:0010557	Overlapping fingers	-	OMIM:618389
285489	DOK7	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:98913
285489	DOK7	HP:0010628	Facial palsy	HP:0040282	ORPHA:98913
285489	DOK7	HP:0001059	Pterygium	HP:0040283	ORPHA:994
285489	DOK7	HP:0003693	Distal amyotrophy	-	OMIM:254300
285489	DOK7	HP:0002375	Hypokinesia	HP:0040281	ORPHA:994
285489	DOK7	HP:0002329	Drowsiness	HP:0040283	ORPHA:98913
285489	DOK7	HP:0007126	Proximal amyotrophy	-	OMIM:254300
285489	DOK7	HP:0002304	Akinesia	HP:0040281	ORPHA:994
285489	DOK7	HP:0003621	Juvenile onset	-	OMIM:254300
285489	DOK7	HP:0009077	Weakness of long finger extensor muscles	HP:0040283	ORPHA:98913
285489	DOK7	HP:0000651	Diplopia	HP:0040283	ORPHA:98913
285489	DOK7	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040282	ORPHA:98913
285489	DOK7	HP:0001989	Fetal akinesia sequence	HP:0040281	ORPHA:994
285489	DOK7	HP:0001989	Fetal akinesia sequence	-	OMIM:618389
285489	DOK7	HP:0005659	Thoracic kyphoscoliosis	HP:0040283	ORPHA:98913
285489	DOK7	HP:0011463	Childhood onset	-	OMIM:254300
285489	DOK7	HP:0012764	Orthopnea	HP:0040283	ORPHA:98913
285489	DOK7	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:98913
285489	DOK7	HP:0000961	Cyanosis	HP:0040283	ORPHA:98913
285489	DOK7	HP:0002828	Multiple joint contractures	HP:0040281	ORPHA:994
285489	DOK7	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:994
285489	DOK7	HP:0002878	Respiratory failure	HP:0040283	ORPHA:98913
285489	DOK7	HP:0000218	High palate	HP:0040282	ORPHA:98913
285489	DOK7	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:98913
285489	DOK7	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:994
285489	DOK7	HP:0001558	Decreased fetal movement	HP:0040283	OMIM:254300
285489	DOK7	HP:0031374	Ankle weakness	HP:0040283	ORPHA:98913
285489	DOK7	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:994
285489	DOK7	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	0/19	OMIM:254300
285489	DOK7	HP:0005245	Intestinal hypoplasia	HP:0040283	ORPHA:994
285489	DOK7	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040283	ORPHA:98913
285489	DOK7	HP:0030199	Fatigable weakness of neck muscles	HP:0040282	ORPHA:98913
285489	DOK7	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:994
285489	DOK7	HP:0000347	Micrognathia	HP:0040281	ORPHA:994
285489	DOK7	HP:0000347	Micrognathia	-	OMIM:618389
285489	DOK7	HP:0000316	Hypertelorism	HP:0040282	ORPHA:994
285489	DOK7	HP:0030319	Weakness of facial musculature	19/19	OMIM:254300
285489	DOK7	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:994
285489	DOK7	HP:0012473	Tongue atrophy	4/10	OMIM:254300
285489	DOK7	HP:0000476	Cystic hygroma	HP:0040282	ORPHA:994
285489	DOK7	HP:0000494	Downslanted palpebral fissures	-	OMIM:618389
285489	DOK7	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:98913
285489	DOK7	HP:0000470	Short neck	-	OMIM:618389
285489	DOK7	HP:0001838	Rocker bottom foot	-	OMIM:618389
285489	DOK7	HP:0000508	Ptosis	HP:0040282	ORPHA:98913
285489	DOK7	HP:0000508	Ptosis	13/19	OMIM:254300
285489	DOK7	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:98913
285489	DOK7	HP:0000597	Ophthalmoparesis	HP:0040283	OMIM:254300
285489	DOK7	HP:0001883	Talipes	-	OMIM:618389
285489	DOK7	HP:0012515	Hip flexor weakness	HP:0040283	ORPHA:98913
285498	RNF212	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
285498	RNF212	HP:0031039	Spermatocyte maturation arrest	2/2	OMIM:619673
285498	RNF212	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
285498	RNF212	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
285498	RNF212	HP:0000007	Autosomal recessive inheritance	-	OMIM:619673
285498	RNF212	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
285498	RNF212	HP:0011961	Non-obstructive azoospermia	2/2	OMIM:619673
285498	RNF212	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
285498	RNF212	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
285498	RNF212	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
285498	RNF212	HP:0003251	Male infertility	2/2	OMIM:619673
285590	SH3PXD2B	HP:0001156	Brachydactyly	HP:0040281	ORPHA:137834
285590	SH3PXD2B	HP:0010885	Avascular necrosis	HP:0040281	ORPHA:137834
285590	SH3PXD2B	HP:0020206	Simple ear	-	OMIM:249420
285590	SH3PXD2B	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
285590	SH3PXD2B	HP:0001293	Cranial nerve compression	-	OMIM:131300
285590	SH3PXD2B	HP:0001270	Motor delay	12/13	OMIM:249420
285590	SH3PXD2B	HP:0001252	Hypotonia	1/1	OMIM:249420
285590	SH3PXD2B	HP:0001252	Hypotonia	2/7	OMIM:615777
285590	SH3PXD2B	HP:0001249	Intellectual disability	5/7	OMIM:615777
285590	SH3PXD2B	HP:0001263	Global developmental delay	-	OMIM:615777
285590	SH3PXD2B	HP:0002515	Waddling gait	54/102	OMIM:131300
285590	SH3PXD2B	HP:0001385	Hip dysplasia	-	OMIM:249420
285590	SH3PXD2B	HP:0001387	Joint stiffness	HP:0040282	ORPHA:137834
285590	SH3PXD2B	HP:0001382	Joint hypermobility	-	OMIM:615777
285590	SH3PXD2B	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:137834
285590	SH3PXD2B	HP:0002694	Sclerosis of skull base	-	OMIM:131300
285590	SH3PXD2B	HP:0008897	Postnatal growth retardation	-	OMIM:615777
285590	SH3PXD2B	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
285590	SH3PXD2B	HP:0001324	Muscle weakness	40/96	OMIM:131300
285590	SH3PXD2B	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
285590	SH3PXD2B	HP:0000007	Autosomal recessive inheritance	-	OMIM:249420
285590	SH3PXD2B	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
285590	SH3PXD2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
285590	SH3PXD2B	HP:0002650	Scoliosis	HP:0040282	ORPHA:137834
285590	SH3PXD2B	HP:0002650	Scoliosis	12/14	OMIM:131300
285590	SH3PXD2B	HP:0002645	Wormian bones	-	OMIM:249420
285590	SH3PXD2B	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
285590	SH3PXD2B	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
285590	SH3PXD2B	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
285590	SH3PXD2B	HP:0000187	Broad alveolar ridges	9/13	OMIM:249420
285590	SH3PXD2B	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
285590	SH3PXD2B	HP:0000175	Cleft palate	2/7	OMIM:615777
285590	SH3PXD2B	HP:0002797	Osteolysis	HP:0040281	ORPHA:137834
285590	SH3PXD2B	HP:0000154	Wide mouth	HP:0040281	ORPHA:137834
285590	SH3PXD2B	HP:0000154	Wide mouth	16/16	OMIM:249420
285590	SH3PXD2B	HP:0002751	Kyphoscoliosis	1/1	OMIM:249420
285590	SH3PXD2B	HP:0005989	Redundant neck skin	1/1	OMIM:249420
285590	SH3PXD2B	HP:0002079	Hypoplasia of the corpus callosum	1/1	OMIM:249420
285590	SH3PXD2B	HP:0003388	Easy fatigability	36/76	OMIM:131300
285590	SH3PXD2B	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
285590	SH3PXD2B	HP:0004611	Anterior concavity of thoracic vertebrae	-	OMIM:249420
285590	SH3PXD2B	HP:0005916	Abnormal metacarpal morphology	HP:0040282	ORPHA:137834
285590	SH3PXD2B	HP:0100490	Camptodactyly of finger	HP:0040282	ORPHA:137834
285590	SH3PXD2B	HP:0002280	Enlarged cisterna magna	1/1	OMIM:249420
285590	SH3PXD2B	HP:0003510	Severe short stature	7/7	OMIM:615777
285590	SH3PXD2B	HP:0001061	Acne	HP:0040281	ORPHA:137834
285590	SH3PXD2B	HP:0001061	Acne	-	OMIM:249420
285590	SH3PXD2B	HP:0002315	Headache	-	OMIM:131300
285590	SH3PXD2B	HP:0004976	Knee dislocation	6/7	OMIM:615777
285590	SH3PXD2B	HP:0001090	Abnormally large globe	1/1	OMIM:249420
285590	SH3PXD2B	HP:0001072	Thickened skin	HP:0040281	ORPHA:137834
285590	SH3PXD2B	HP:0009803	Short phalanx of finger	-	OMIM:249420
285590	SH3PXD2B	HP:0009803	Short phalanx of finger	-	OMIM:615777
285590	SH3PXD2B	HP:0001087	Developmental glaucoma	7/16	OMIM:249420
285590	SH3PXD2B	HP:0009763	Limb pain	63/92	OMIM:131300
285590	SH3PXD2B	HP:0003623	Neonatal onset	1/1	OMIM:249420
285590	SH3PXD2B	HP:0003621	Juvenile onset	-	OMIM:131300
285590	SH3PXD2B	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
285590	SH3PXD2B	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:137834
285590	SH3PXD2B	HP:0004279	Short palm	11/16	OMIM:249420
285590	SH3PXD2B	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
285590	SH3PXD2B	HP:6001056	Out-toeing	-	OMIM:131300
285590	SH3PXD2B	HP:0000651	Diplopia	-	OMIM:131300
285590	SH3PXD2B	HP:0001956	Truncal obesity	2/7	OMIM:615777
285590	SH3PXD2B	HP:0001903	Anemia	HP:0040283	OMIM:131300
285590	SH3PXD2B	HP:0010049	Short metacarpal	-	OMIM:615777
285590	SH3PXD2B	HP:0000684	Delayed eruption of teeth	HP:0040282	ORPHA:137834
285590	SH3PXD2B	HP:0000678	Dental crowding	-	OMIM:615777
285590	SH3PXD2B	HP:0000689	Dental malocclusion	-	OMIM:249420
285590	SH3PXD2B	HP:0000670	Carious teeth	-	OMIM:131300
285590	SH3PXD2B	HP:0011304	Broad thumb	2/7	OMIM:615777
285590	SH3PXD2B	HP:0000668	Hypodontia	-	OMIM:615777
285590	SH3PXD2B	HP:0000664	Synophrys	-	OMIM:615777
285590	SH3PXD2B	HP:0004396	Poor appetite	-	OMIM:131300
285590	SH3PXD2B	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
285590	SH3PXD2B	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
285590	SH3PXD2B	HP:0003015	Flared metaphysis	-	OMIM:249420
285590	SH3PXD2B	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
285590	SH3PXD2B	HP:0003026	Short long bone	7/7	OMIM:615777
285590	SH3PXD2B	HP:0003026	Short long bone	-	OMIM:249420
285590	SH3PXD2B	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
285590	SH3PXD2B	HP:0000771	Gynecomastia	HP:0040283	ORPHA:137834
285590	SH3PXD2B	HP:0000767	Pectus excavatum	-	OMIM:249420
285590	SH3PXD2B	HP:0000767	Pectus excavatum	2/7	OMIM:615777
285590	SH3PXD2B	HP:0000768	Pectus carinatum	1/7	OMIM:615777
285590	SH3PXD2B	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
285590	SH3PXD2B	HP:0000750	Delayed speech and language development	-	OMIM:615777
285590	SH3PXD2B	HP:0011461	Fetal onset	7/7	OMIM:615777
285590	SH3PXD2B	HP:0000774	Narrow chest	2/7	OMIM:615777
285590	SH3PXD2B	HP:0005731	Cortical irregularity	-	OMIM:249420
285590	SH3PXD2B	HP:0000916	Broad clavicles	-	OMIM:249420
285590	SH3PXD2B	HP:0000926	Platyspondyly	1/7	OMIM:615777
285590	SH3PXD2B	HP:0003180	Flat acetabular roof	-	OMIM:615777
285590	SH3PXD2B	HP:0004482	Relative macrocephaly	-	OMIM:615777
285590	SH3PXD2B	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
285590	SH3PXD2B	HP:0000823	Delayed puberty	-	OMIM:131300
285590	SH3PXD2B	HP:0040016	Prominent coccyx	12/15	OMIM:249420
285590	SH3PXD2B	HP:0000894	Short clavicles	-	OMIM:615777
285590	SH3PXD2B	HP:0004568	Beaking of vertebral bodies	HP:0040282	ORPHA:137834
285590	SH3PXD2B	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
285590	SH3PXD2B	HP:0000957	Cafe-au-lait spot	1/1	OMIM:249420
285590	SH3PXD2B	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
285590	SH3PXD2B	HP:0000939	Osteoporosis	-	OMIM:249420
285590	SH3PXD2B	HP:0000938	Osteopenia	-	OMIM:249420
285590	SH3PXD2B	HP:0000286	Epicanthus	1/7	OMIM:615777
285590	SH3PXD2B	HP:0000280	Coarse facial features	2/7	OMIM:615777
285590	SH3PXD2B	HP:0000280	Coarse facial features	HP:0040281	ORPHA:137834
285590	SH3PXD2B	HP:0000280	Coarse facial features	1/1	OMIM:249420
285590	SH3PXD2B	HP:0000293	Full cheeks	17/17	OMIM:249420
285590	SH3PXD2B	HP:0000260	Wide anterior fontanel	17/17	OMIM:249420
285590	SH3PXD2B	HP:0000270	Delayed cranial suture closure	-	OMIM:249420
285590	SH3PXD2B	HP:0002816	Genu recurvatum	HP:0040282	ORPHA:137834
285590	SH3PXD2B	HP:0002827	Hip dislocation	3/7	OMIM:615777
285590	SH3PXD2B	HP:0002808	Kyphosis	HP:0040282	ORPHA:137834
285590	SH3PXD2B	HP:0002808	Kyphosis	8/15	OMIM:249420
285590	SH3PXD2B	HP:0000252	Microcephaly	-	OMIM:615777
285590	SH3PXD2B	HP:0000248	Brachycephaly	14/18	OMIM:249420
285590	SH3PXD2B	HP:0000219	Thin upper lip vermilion	1/1	OMIM:249420
285590	SH3PXD2B	HP:0000218	High palate	-	OMIM:249420
285590	SH3PXD2B	HP:0000212	Gingival overgrowth	HP:0040282	ORPHA:137834
285590	SH3PXD2B	HP:0000212	Gingival overgrowth	-	OMIM:249420
285590	SH3PXD2B	HP:0002857	Genu valgum	-	OMIM:131300
285590	SH3PXD2B	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:137834
285590	SH3PXD2B	HP:0001533	Slender build	-	OMIM:131300
285590	SH3PXD2B	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
285590	SH3PXD2B	HP:0001510	Growth delay	-	OMIM:249420
285590	SH3PXD2B	HP:0007807	Optic nerve compression	-	OMIM:131300
285590	SH3PXD2B	HP:0012385	Camptodactyly	10/18	OMIM:249420
285590	SH3PXD2B	HP:0012368	Flat face	7/7	OMIM:615777
285590	SH3PXD2B	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
285590	SH3PXD2B	HP:0006480	Premature loss of teeth	HP:0040282	ORPHA:137834
285590	SH3PXD2B	HP:0006487	Bowing of the long bones	8/16	OMIM:249420
285590	SH3PXD2B	HP:0000365	Hearing impairment	10/67	OMIM:131300
285590	SH3PXD2B	HP:0000369	Low-set ears	1/1	OMIM:249420
285590	SH3PXD2B	HP:0000343	Long philtrum	1/7	OMIM:615777
285590	SH3PXD2B	HP:0011001	Increased bone mineral density	-	OMIM:131300
285590	SH3PXD2B	HP:0000337	Broad forehead	HP:0040282	ORPHA:137834
285590	SH3PXD2B	HP:0001684	Secundum atrial septal defect	1/1	OMIM:249420
285590	SH3PXD2B	HP:0000348	High forehead	HP:0040282	ORPHA:137834
285590	SH3PXD2B	HP:0000347	Micrognathia	16/18	OMIM:249420
285590	SH3PXD2B	HP:0000316	Hypertelorism	HP:0040281	ORPHA:137834
285590	SH3PXD2B	HP:0000316	Hypertelorism	16/16	OMIM:249420
285590	SH3PXD2B	HP:0000311	Round face	2/7	OMIM:615777
285590	SH3PXD2B	HP:0000322	Short philtrum	HP:0040281	ORPHA:137834
285590	SH3PXD2B	HP:0001655	Patent foramen ovale	1/1	OMIM:249420
285590	SH3PXD2B	HP:0001629	Ventricular septal defect	6/12	OMIM:249420
285590	SH3PXD2B	HP:0002970	Genu varum	-	OMIM:615777
285590	SH3PXD2B	HP:0001631	Atrial septal defect	1/12	OMIM:249420
285590	SH3PXD2B	HP:0000303	Mandibular prognathia	-	OMIM:131300
285590	SH3PXD2B	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:137834
285590	SH3PXD2B	HP:0001634	Mitral valve prolapse	HP:0040281	ORPHA:137834
285590	SH3PXD2B	HP:0001634	Mitral valve prolapse	1/12	OMIM:249420
285590	SH3PXD2B	HP:0001719	Double outlet right ventricle	2/8	OMIM:249420
285590	SH3PXD2B	HP:0005280	Depressed nasal bridge	HP:0040281	ORPHA:137834
285590	SH3PXD2B	HP:0005280	Depressed nasal bridge	1/1	OMIM:249420
285590	SH3PXD2B	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
285590	SH3PXD2B	HP:0000485	Megalocornea	16/17	OMIM:249420
285590	SH3PXD2B	HP:0012471	Thick vermilion border	HP:0040281	ORPHA:137834
285590	SH3PXD2B	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:137834
285590	SH3PXD2B	HP:0000494	Downslanted palpebral fissures	1/1	OMIM:249420
285590	SH3PXD2B	HP:0000490	Deeply set eye	HP:0040281	ORPHA:137834
285590	SH3PXD2B	HP:0000463	Anteverted nares	12/16	OMIM:249420
285590	SH3PXD2B	HP:0000455	Broad nasal tip	1/1	OMIM:249420
285590	SH3PXD2B	HP:0000470	Short neck	1/7	OMIM:615777
285590	SH3PXD2B	HP:0001769	Broad foot	HP:0040283	OMIM:615777
285590	SH3PXD2B	HP:0001763	Pes planus	1/7	OMIM:615777
285590	SH3PXD2B	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:249420
285590	SH3PXD2B	HP:0000411	Protruding ear	HP:0040282	ORPHA:137834
285590	SH3PXD2B	HP:0000411	Protruding ear	8/12	OMIM:249420
285590	SH3PXD2B	HP:0001762	Talipes equinovarus	7/15	OMIM:249420
285590	SH3PXD2B	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:137834
285590	SH3PXD2B	HP:0005469	Flat occiput	-	OMIM:249420
285590	SH3PXD2B	HP:0001840	Metatarsus adductus	-	OMIM:249420
285590	SH3PXD2B	HP:0001840	Metatarsus adductus	-	OMIM:615777
285590	SH3PXD2B	HP:0000520	Proptosis	2/4	OMIM:131300
285590	SH3PXD2B	HP:0000520	Proptosis	7/7	OMIM:615777
285590	SH3PXD2B	HP:0000520	Proptosis	17/17	OMIM:249420
285590	SH3PXD2B	HP:0000592	Blue sclerae	2/7	OMIM:615777
285590	SH3PXD2B	HP:0011220	Prominent forehead	16/18	OMIM:249420
285590	SH3PXD2B	HP:0000557	Buphthalmos	1/1	OMIM:249420
285590	SH3PXD2B	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
285590	SH3PXD2B	HP:0012514	Lower limb pain	4/4	OMIM:131300
285600	KIAA0825	HP:0001162	Postaxial hand polydactyly	-	OMIM:618498
285600	KIAA0825	HP:0000007	Autosomal recessive inheritance	-	OMIM:618498
285600	KIAA0825	HP:0003577	Congenital onset	-	OMIM:618498
285600	KIAA0825	HP:0005696	Postaxial polydactyly type A	-	OMIM:618498
285600	KIAA0825	HP:0001830	Postaxial foot polydactyly	-	OMIM:618498
285848	PNPLA1	HP:0025114	Hypergranulosis	-	OMIM:615024
285848	PNPLA1	HP:0007503	Generalized ichthyosis	6/6	OMIM:615024
285848	PNPLA1	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	6/6	OMIM:615024
285848	PNPLA1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615024
285848	PNPLA1	HP:0003577	Congenital onset	6/6	OMIM:615024
285848	PNPLA1	HP:0001019	Erythroderma	6/6	OMIM:615024
285848	PNPLA1	HP:0001019	Erythroderma	HP:0040281	ORPHA:79394
285848	PNPLA1	HP:0200020	Corneal erosion	HP:0040282	ORPHA:79394
285848	PNPLA1	HP:0025080	Orthokeratotic hyperkeratosis	-	OMIM:615024
285848	PNPLA1	HP:0000656	Ectropion	HP:0040281	ORPHA:79394
285848	PNPLA1	HP:0004322	Short stature	HP:0040283	ORPHA:79394
285848	PNPLA1	HP:0000989	Pruritus	HP:0040281	ORPHA:79394
285848	PNPLA1	HP:0000982	Palmoplantar keratoderma	6/6	OMIM:615024
285848	PNPLA1	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:79394
285848	PNPLA1	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:79394
285848	PNPLA1	HP:0000962	Hyperkeratosis	-	OMIM:615024
285848	PNPLA1	HP:0008064	Ichthyosis	HP:0040281	ORPHA:79394
285848	PNPLA1	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:79394
285848	PNPLA1	HP:0001596	Alopecia	HP:0040282	ORPHA:79394
285848	PNPLA1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79394
285848	PNPLA1	HP:0000365	Hearing impairment	HP:0040282	ORPHA:79394
285848	PNPLA1	HP:0000491	Keratitis	HP:0040282	ORPHA:79394
286053	NSMCE2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
286053	NSMCE2	HP:0001293	Cranial nerve compression	-	OMIM:131300
286053	NSMCE2	HP:0001252	Hypotonia	2/7	OMIM:615777
286053	NSMCE2	HP:0001249	Intellectual disability	5/7	OMIM:615777
286053	NSMCE2	HP:0001263	Global developmental delay	-	OMIM:615777
286053	NSMCE2	HP:0002515	Waddling gait	54/102	OMIM:131300
286053	NSMCE2	HP:0001397	Hepatic steatosis	2/2	OMIM:617253
286053	NSMCE2	HP:0001397	Hepatic steatosis	HP:0040281	ORPHA:436182
286053	NSMCE2	HP:0001382	Joint hypermobility	-	OMIM:615777
286053	NSMCE2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
286053	NSMCE2	HP:0008890	Severe short-limb dwarfism	HP:0040281	ORPHA:436182
286053	NSMCE2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
286053	NSMCE2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
286053	NSMCE2	HP:0001324	Muscle weakness	40/96	OMIM:131300
286053	NSMCE2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
286053	NSMCE2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
286053	NSMCE2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617253
286053	NSMCE2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
286053	NSMCE2	HP:0002650	Scoliosis	12/14	OMIM:131300
286053	NSMCE2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
286053	NSMCE2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
286053	NSMCE2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
286053	NSMCE2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
286053	NSMCE2	HP:0000175	Cleft palate	2/7	OMIM:615777
286053	NSMCE2	HP:0003388	Easy fatigability	36/76	OMIM:131300
286053	NSMCE2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
286053	NSMCE2	HP:0040270	Impaired glucose tolerance	-	OMIM:617253
286053	NSMCE2	HP:0008193	Primary gonadal insufficiency	HP:0040281	ORPHA:436182
286053	NSMCE2	HP:0002155	Hypertriglyceridemia	2/2	OMIM:617253
286053	NSMCE2	HP:0002155	Hypertriglyceridemia	HP:0040281	ORPHA:436182
286053	NSMCE2	HP:0010609	Skin tags	-	OMIM:617253
286053	NSMCE2	HP:0008232	Elevated circulating follicle stimulating hormone level	-	OMIM:617253
286053	NSMCE2	HP:0010579	Cone-shaped epiphysis	-	OMIM:617253
286053	NSMCE2	HP:0011969	Elevated circulating luteinizing hormone level	-	OMIM:617253
286053	NSMCE2	HP:0010620	Malar prominence	HP:0040281	ORPHA:436182
286053	NSMCE2	HP:0003510	Severe short stature	2/2	OMIM:617253
286053	NSMCE2	HP:0003510	Severe short stature	7/7	OMIM:615777
286053	NSMCE2	HP:0002315	Headache	-	OMIM:131300
286053	NSMCE2	HP:0004976	Knee dislocation	6/7	OMIM:615777
286053	NSMCE2	HP:0009803	Short phalanx of finger	-	OMIM:615777
286053	NSMCE2	HP:0009763	Limb pain	63/92	OMIM:131300
286053	NSMCE2	HP:0003621	Juvenile onset	-	OMIM:131300
286053	NSMCE2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
286053	NSMCE2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
286053	NSMCE2	HP:6001056	Out-toeing	-	OMIM:131300
286053	NSMCE2	HP:0000651	Diplopia	-	OMIM:131300
286053	NSMCE2	HP:0001956	Truncal obesity	2/7	OMIM:615777
286053	NSMCE2	HP:0001952	Glucose intolerance	-	OMIM:617253
286053	NSMCE2	HP:0001903	Anemia	HP:0040283	OMIM:131300
286053	NSMCE2	HP:0010049	Short metacarpal	-	OMIM:615777
286053	NSMCE2	HP:0000678	Dental crowding	-	OMIM:615777
286053	NSMCE2	HP:0000670	Carious teeth	-	OMIM:131300
286053	NSMCE2	HP:0011304	Broad thumb	2/7	OMIM:615777
286053	NSMCE2	HP:0000668	Hypodontia	-	OMIM:615777
286053	NSMCE2	HP:0000664	Synophrys	-	OMIM:615777
286053	NSMCE2	HP:0031956	Elevated circulating aspartate aminotransferase concentration	-	OMIM:617253
286053	NSMCE2	HP:0031964	Elevated circulating alanine aminotransferase concentration	-	OMIM:617253
286053	NSMCE2	HP:0003076	Glycosuria	-	OMIM:617253
286053	NSMCE2	HP:0004396	Poor appetite	-	OMIM:131300
286053	NSMCE2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
286053	NSMCE2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
286053	NSMCE2	HP:0003016	Metaphyseal widening	-	OMIM:617253
286053	NSMCE2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
286053	NSMCE2	HP:0003026	Short long bone	7/7	OMIM:615777
286053	NSMCE2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
286053	NSMCE2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
286053	NSMCE2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
286053	NSMCE2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
286053	NSMCE2	HP:0000750	Delayed speech and language development	-	OMIM:615777
286053	NSMCE2	HP:0011461	Fetal onset	7/7	OMIM:615777
286053	NSMCE2	HP:0000774	Narrow chest	2/7	OMIM:615777
286053	NSMCE2	HP:0003100	Slender long bone	-	OMIM:617253
286053	NSMCE2	HP:0000926	Platyspondyly	1/7	OMIM:615777
286053	NSMCE2	HP:0003180	Flat acetabular roof	-	OMIM:615777
286053	NSMCE2	HP:0004482	Relative macrocephaly	-	OMIM:615777
286053	NSMCE2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
286053	NSMCE2	HP:0000855	Insulin resistance	2/2	OMIM:617253
286053	NSMCE2	HP:0000831	Insulin-resistant diabetes mellitus	HP:0040281	ORPHA:436182
286053	NSMCE2	HP:0000819	Diabetes mellitus	-	OMIM:617253
286053	NSMCE2	HP:0000822	Hypertension	-	OMIM:617253
286053	NSMCE2	HP:0000823	Delayed puberty	-	OMIM:131300
286053	NSMCE2	HP:0000894	Short clavicles	-	OMIM:615777
286053	NSMCE2	HP:0040217	Elevated hemoglobin A1c	-	OMIM:617253
286053	NSMCE2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
286053	NSMCE2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
286053	NSMCE2	HP:0000956	Acanthosis nigricans	-	OMIM:617253
286053	NSMCE2	HP:0000286	Epicanthus	1/7	OMIM:615777
286053	NSMCE2	HP:0000280	Coarse facial features	2/7	OMIM:615777
286053	NSMCE2	HP:0005112	Abdominal aortic aneurysm	-	OMIM:617253
286053	NSMCE2	HP:0002827	Hip dislocation	3/7	OMIM:615777
286053	NSMCE2	HP:0000252	Microcephaly	-	OMIM:617253
286053	NSMCE2	HP:0000252	Microcephaly	-	OMIM:615777
286053	NSMCE2	HP:0002857	Genu valgum	-	OMIM:131300
286053	NSMCE2	HP:0001533	Slender build	-	OMIM:131300
286053	NSMCE2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
286053	NSMCE2	HP:0007807	Optic nerve compression	-	OMIM:131300
286053	NSMCE2	HP:0012368	Flat face	7/7	OMIM:615777
286053	NSMCE2	HP:0012371	Hyperplasia of midface	2/2	OMIM:617253
286053	NSMCE2	HP:0007875	Congenital blindness	HP:0040283	ORPHA:436182
286053	NSMCE2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
286053	NSMCE2	HP:0000365	Hearing impairment	10/67	OMIM:131300
286053	NSMCE2	HP:0000343	Long philtrum	1/7	OMIM:615777
286053	NSMCE2	HP:0011001	Increased bone mineral density	-	OMIM:131300
286053	NSMCE2	HP:0000347	Micrognathia	HP:0040281	ORPHA:436182
286053	NSMCE2	HP:0000311	Round face	2/7	OMIM:615777
286053	NSMCE2	HP:0002970	Genu varum	-	OMIM:615777
286053	NSMCE2	HP:0000308	Microretrognathia	2/2	OMIM:617253
286053	NSMCE2	HP:0001635	Congestive heart failure	-	OMIM:617253
286053	NSMCE2	HP:0000303	Mandibular prognathia	-	OMIM:131300
286053	NSMCE2	HP:0001735	Acute pancreatitis	-	OMIM:617253
286053	NSMCE2	HP:0001714	Ventricular hypertrophy	-	OMIM:617253
286053	NSMCE2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
286053	NSMCE2	HP:0000470	Short neck	1/7	OMIM:615777
286053	NSMCE2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
286053	NSMCE2	HP:0001763	Pes planus	1/7	OMIM:615777
286053	NSMCE2	HP:0001840	Metatarsus adductus	-	OMIM:615777
286053	NSMCE2	HP:0000520	Proptosis	2/4	OMIM:131300
286053	NSMCE2	HP:0000520	Proptosis	7/7	OMIM:615777
286053	NSMCE2	HP:0000592	Blue sclerae	2/7	OMIM:615777
286053	NSMCE2	HP:0000541	Retinal detachment	1/2	OMIM:617253
286053	NSMCE2	HP:0000541	Retinal detachment	HP:0040283	ORPHA:436182
286053	NSMCE2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
286053	NSMCE2	HP:0012514	Lower limb pain	4/4	OMIM:131300
286077	FAM83H	HP:0000006	Autosomal dominant inheritance	-	OMIM:130900
286077	FAM83H	HP:0000689	Dental malocclusion	-	OMIM:130900
286077	FAM83H	HP:0009102	Anterior open-bite malocclusion	-	OMIM:130900
286077	FAM83H	HP:0000705	Amelogenesis imperfecta	-	OMIM:130900
286151	FBXO43	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
286151	FBXO43	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
286151	FBXO43	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
286151	FBXO43	HP:0000007	Autosomal recessive inheritance	-	OMIM:619696
286151	FBXO43	HP:0000007	Autosomal recessive inheritance	-	OMIM:619697
286151	FBXO43	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
286151	FBXO43	HP:0008222	Female infertility	4/4	OMIM:619697
286151	FBXO43	HP:0033335	Abnormal preimplantation embryonic development	4/4	OMIM:619697
286151	FBXO43	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
286151	FBXO43	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
286151	FBXO43	HP:0034011	Reduced progressive sperm motility	2/2	OMIM:619696
286151	FBXO43	HP:0011462	Young adult onset	2/2	OMIM:619696
286151	FBXO43	HP:0000798	Oligozoospermia	2/2	OMIM:619696
286151	FBXO43	HP:0012865	Abnormal sperm head morphology	2/2	OMIM:619696
286151	FBXO43	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
286151	FBXO43	HP:0003251	Male infertility	2/2	OMIM:619696
286204	CRB2	HP:0003774	Stage 5 chronic kidney disease	HP:0040282	ORPHA:656
286204	CRB2	HP:0002586	Peritonitis	HP:0040284	ORPHA:656
286204	CRB2	HP:0001250	Seizure	1/1	OMIM:219730
286204	CRB2	HP:0000083	Renal insufficiency	-	OMIM:219730
286204	CRB2	HP:0000097	Focal segmental glomerulosclerosis	HP:0040282	ORPHA:656
286204	CRB2	HP:0000097	Focal segmental glomerulosclerosis	4/4	OMIM:616220
286204	CRB2	HP:0000093	Proteinuria	HP:0040280	ORPHA:656
286204	CRB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:219730
286204	CRB2	HP:0000007	Autosomal recessive inheritance	-	OMIM:616220
286204	CRB2	HP:0002617	Vascular dilatation	-	OMIM:219730
286204	CRB2	HP:0032622	Tubular luminal dilatation	1/5	OMIM:219730
286204	CRB2	HP:0000108	Renal corticomedullary cysts	4/6	OMIM:219730
286204	CRB2	HP:0002027	Abdominal pain	HP:0040283	ORPHA:656
286204	CRB2	HP:0100539	Periorbital edema	HP:0040282	ORPHA:656
286204	CRB2	HP:0002119	Ventriculomegaly	4/6	OMIM:219730
286204	CRB2	HP:0004719	Hyperechogenic kidneys	2/6	OMIM:219730
286204	CRB2	HP:0003593	Infantile onset	1/4	OMIM:616220
286204	CRB2	HP:0002282	Gray matter heterotopia	1/6	OMIM:219730
286204	CRB2	HP:0011947	Respiratory tract infection	HP:0040283	ORPHA:656
286204	CRB2	HP:0002315	Headache	HP:0040283	ORPHA:656
286204	CRB2	HP:0003621	Juvenile onset	1/4	OMIM:616220
286204	CRB2	HP:0012622	Chronic kidney disease	HP:0040282	ORPHA:656
286204	CRB2	HP:0001967	Diffuse mesangial sclerosis	HP:0040283	ORPHA:656
286204	CRB2	HP:0001945	Fever	HP:0040283	ORPHA:656
286204	CRB2	HP:0003073	Hypoalbuminemia	HP:0040283	ORPHA:656
286204	CRB2	HP:0000737	Irritability	HP:0040283	ORPHA:656
286204	CRB2	HP:0000707	Abnormality of the nervous system	HP:0040284	ORPHA:656
286204	CRB2	HP:0011463	Childhood onset	2/4	OMIM:616220
286204	CRB2	HP:0011461	Fetal onset	6/6	OMIM:219730
286204	CRB2	HP:0011432	Elevated maternal circulating alpha-fetoprotein concentration	6/6	OMIM:219730
286204	CRB2	HP:0100259	Postaxial polydactyly	-	OMIM:219730
286204	CRB2	HP:0000969	Edema	HP:0040281	ORPHA:656
286204	CRB2	HP:0000238	Hydrocephalus	-	OMIM:219730
286204	CRB2	HP:0001561	Polyhydramnios	-	OMIM:219730
286204	CRB2	HP:0031504	Foamy urine	HP:0040283	ORPHA:656
286204	CRB2	HP:0025671	Fetal pericardial effusion	1/6	OMIM:219730
286204	CRB2	HP:0001629	Ventricular septal defect	1/6	OMIM:219730
286204	CRB2	HP:0001622	Premature birth	HP:0040283	OMIM:219730
286204	CRB2	HP:0012588	Steroid-resistant nephrotic syndrome	5/5	OMIM:616220
286204	CRB2	HP:0012579	Minimal change glomerulonephritis	HP:0040283	ORPHA:656
286262	TPRN	HP:0000007	Autosomal recessive inheritance	-	OMIM:613307
286262	TPRN	HP:0000750	Delayed speech and language development	-	OMIM:613307
286262	TPRN	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:613307
286262	TPRN	HP:0000407	Sensorineural hearing impairment	-	OMIM:613307
286410	ATP11C	HP:0001419	X-linked recessive inheritance	-	OMIM:301015
286410	ATP11C	HP:0040319	Dark urine	1/1	OMIM:301015
286410	ATP11C	HP:0003577	Congenital onset	-	OMIM:301015
286410	ATP11C	HP:0000952	Jaundice	1/1	OMIM:301015
286410	ATP11C	HP:0001878	Hemolytic anemia	1/1	OMIM:301015
286464	CFAP47	HP:0032558	Absent sperm flagella	4/4	OMIM:301059
286464	CFAP47	HP:0032559	Short sperm flagella	4/4	OMIM:301059
286464	CFAP47	HP:0032560	Coiled sperm flagella	4/4	OMIM:301059
286464	CFAP47	HP:0001419	X-linked recessive inheritance	-	OMIM:301059
286464	CFAP47	HP:0033393	Irregularly shaped sperm tail	4/4	OMIM:301059
286464	CFAP47	HP:0000798	Oligozoospermia	4/4	OMIM:301059
286464	CFAP47	HP:0003251	Male infertility	4/4	OMIM:301059
286464	CFAP47	HP:0012207	Reduced sperm motility	4/4	OMIM:301059
286676	ILDR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:609646
286676	ILDR1	HP:0003593	Infantile onset	-	OMIM:609646
286676	ILDR1	HP:0003680	Nonprogressive	-	OMIM:609646
286676	ILDR1	HP:0000407	Sensorineural hearing impairment	-	OMIM:609646
286887	KRT6C	HP:0007556	Plantar hyperkeratosis	-	OMIM:615735
286887	KRT6C	HP:0000006	Autosomal dominant inheritance	-	OMIM:615735
286887	KRT6C	HP:0002745	Oral leukoplakia	1/17	OMIM:615735
286887	KRT6C	HP:0025092	Epidermal acanthosis	-	OMIM:615735
286887	KRT6C	HP:0000982	Palmoplantar keratoderma	-	OMIM:615735
317662	FAM149B1	HP:0001156	Brachydactyly	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2754
317662	FAM149B1	HP:0001159	Syndactyly	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0002444	Hypothalamic hamartoma	HP:0040283	ORPHA:2754
317662	FAM149B1	HP:0002419	Molar tooth sign on MRI	2/4	OMIM:618763
317662	FAM149B1	HP:0002419	Molar tooth sign on MRI	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0001250	Seizure	1/4	OMIM:618763
317662	FAM149B1	HP:0001250	Seizure	HP:0040283	ORPHA:2754
317662	FAM149B1	HP:0001252	Hypotonia	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0001251	Ataxia	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0001249	Intellectual disability	4/4	OMIM:618763
317662	FAM149B1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0001263	Global developmental delay	4/4	OMIM:618763
317662	FAM149B1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2754
317662	FAM149B1	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2754
317662	FAM149B1	HP:0002553	Highly arched eyebrow	1/4	OMIM:618763
317662	FAM149B1	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:2754
317662	FAM149B1	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0006159	Mesoaxial hand polydactyly	4/4	OMIM:618763
317662	FAM149B1	HP:0006145	Central Y-shaped metacarpal	HP:0040283	ORPHA:2754
317662	FAM149B1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618763
317662	FAM149B1	HP:0001337	Tremor	HP:0040283	ORPHA:2754
317662	FAM149B1	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:2754
317662	FAM149B1	HP:0000180	Lobulated tongue	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0000199	Tongue nodules	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0000194	Open mouth	1/4	OMIM:618763
317662	FAM149B1	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0000175	Cleft palate	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0000104	Renal agenesis	HP:0040283	ORPHA:2754
317662	FAM149B1	HP:0002007	Frontal bossing	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0011802	Hamartoma of tongue	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0002104	Apnea	HP:0040283	ORPHA:2754
317662	FAM149B1	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:2754
317662	FAM149B1	HP:0007036	Hypoplasia of olfactory tract	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0009084	Midline notch of upper alveolar ridge	HP:0040283	ORPHA:2754
317662	FAM149B1	HP:0000639	Nystagmus	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0004322	Short stature	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0000768	Pectus carinatum	1/4	OMIM:618763
317662	FAM149B1	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0040019	Finger clinodactyly	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0100260	Mesoaxial polydactyly	HP:0040283	ORPHA:2754
317662	FAM149B1	HP:0100258	Preaxial polydactyly	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0000286	Epicanthus	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0000256	Macrocephaly	1/4	OMIM:618763
317662	FAM149B1	HP:0000276	Long face	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0000218	High palate	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0002876	Episodic tachypnea	HP:0040283	ORPHA:2754
317662	FAM149B1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0001510	Growth delay	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0000347	Micrognathia	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2754
317662	FAM149B1	HP:0000407	Sensorineural hearing impairment	1/4	OMIM:618763
317662	FAM149B1	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0000486	Strabismus	4/4	OMIM:618763
317662	FAM149B1	HP:0000463	Anteverted nares	1/4	OMIM:618763
317662	FAM149B1	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:2754
317662	FAM149B1	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:2754
317662	FAM149B1	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:2754
317662	FAM149B1	HP:0000508	Ptosis	4/4	OMIM:618763
317662	FAM149B1	HP:0011220	Prominent forehead	1/4	OMIM:618763
317662	FAM149B1	HP:0000565	Esotropia	HP:0040282	ORPHA:2754
317719	KLHL10	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
317719	KLHL10	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
317719	KLHL10	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
317719	KLHL10	HP:0000006	Autosomal dominant inheritance	-	OMIM:615081
317719	KLHL10	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
317719	KLHL10	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
317719	KLHL10	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
317719	KLHL10	HP:0000798	Oligozoospermia	7/7	OMIM:615081
317719	KLHL10	HP:0012864	Abnormal sperm morphology	5/7	OMIM:615081
317719	KLHL10	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
317719	KLHL10	HP:0003251	Male infertility	7/7	OMIM:615081
317719	KLHL10	HP:0012207	Reduced sperm motility	4/7	OMIM:615081
317761	C14orf39	HP:0008724	Hypoplasia of the ovary	1/1	OMIM:619203
317761	C14orf39	HP:0000027	Azoospermia	2/2	OMIM:619202
317761	C14orf39	HP:0000013	Hypoplasia of the uterus	1/1	OMIM:619203
317761	C14orf39	HP:0000007	Autosomal recessive inheritance	-	OMIM:619202
317761	C14orf39	HP:0000007	Autosomal recessive inheritance	-	OMIM:619203
317761	C14orf39	HP:0031103	Decreased circulating antimullerian hormone circulation	1/1	OMIM:619203
317761	C14orf39	HP:0008232	Elevated circulating follicle stimulating hormone level	1/1	OMIM:619203
317761	C14orf39	HP:0008209	Premature ovarian insufficiency	1/1	OMIM:619203
317761	C14orf39	HP:0011969	Elevated circulating luteinizing hormone level	1/1	OMIM:619203
317761	C14orf39	HP:0011462	Young adult onset	4/4	OMIM:619202
317761	C14orf39	HP:0000858	Irregular menstruation	1/1	OMIM:619203
317761	C14orf39	HP:0000869	Secondary amenorrhea	1/1	OMIM:619203
317761	C14orf39	HP:0003251	Male infertility	4/4	OMIM:619202
317761	C14orf39	HP:0025709	Intermediate young adult onset	1/1	OMIM:619203
326625	MMAB	HP:0001254	Lethargy	-	OMIM:251110
326625	MMAB	HP:0001252	Hypotonia	1/1	OMIM:251110
326625	MMAB	HP:0001263	Global developmental delay	-	OMIM:251110
326625	MMAB	HP:0001259	Coma	-	OMIM:251110
326625	MMAB	HP:0008872	Feeding difficulties in infancy	-	OMIM:251110
326625	MMAB	HP:0000007	Autosomal recessive inheritance	-	OMIM:251110
326625	MMAB	HP:0012120	Methylmalonic aciduria	11/11	OMIM:251110
326625	MMAB	HP:0002013	Vomiting	-	OMIM:251110
326625	MMAB	HP:0002098	Respiratory distress	-	OMIM:251110
326625	MMAB	HP:0002154	Hyperglycinemia	-	OMIM:251110
326625	MMAB	HP:0002194	Delayed gross motor development	1/1	OMIM:251110
326625	MMAB	HP:0003593	Infantile onset	1/5	OMIM:251110
326625	MMAB	HP:0002240	Hepatomegaly	-	OMIM:251110
326625	MMAB	HP:0033443	Elevated circulating propionylcarnitine concentration	1/1	OMIM:251110
326625	MMAB	HP:0003623	Neonatal onset	14/16	OMIM:251110
326625	MMAB	HP:0001944	Dehydration	-	OMIM:251110
326625	MMAB	HP:0001943	Hypoglycemia	1/1	OMIM:251110
326625	MMAB	HP:0001946	Ketosis	-	OMIM:251110
326625	MMAB	HP:0001942	Metabolic acidosis	-	OMIM:251110
326625	MMAB	HP:0001903	Anemia	-	OMIM:251110
326625	MMAB	HP:0001987	Hyperammonemia	1/1	OMIM:251110
326625	MMAB	HP:0011463	Childhood onset	1/5	OMIM:251110
326625	MMAB	HP:0040126	Abnormal circulating vitamin B12 concentration	0/1	OMIM:251110
326625	MMAB	HP:0003145	Decreased circulating adenosylcobalamin concentration	5/6	OMIM:251110
326625	MMAB	HP:0003210	Decreased methylmalonyl-CoA mutase activity	3/3	OMIM:251110
326625	MMAB	HP:0001508	Failure to thrive	-	OMIM:251110
326625	MMAB	HP:0035024	Elevated circulating methylmalonylcarnitine concentration	1/1	OMIM:251110
326625	MMAB	HP:0002919	Ketonuria	-	OMIM:251110
326625	MMAB	HP:0002912	Methylmalonic acidemia	1/1	OMIM:251110
326625	MMAB	HP:0001644	Dilated cardiomyopathy	1/1	OMIM:251110
326625	MMAB	HP:0032988	Persistent head lag	1/1	OMIM:251110
326625	MMAB	HP:0001873	Thrombocytopenia	-	OMIM:251110
326625	MMAB	HP:0001876	Pancytopenia	-	OMIM:251110
326625	MMAB	HP:0001875	Decreased total neutrophil count	-	OMIM:251110
337867	UBAC2	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:117
337867	UBAC2	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:117
337867	UBAC2	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:117
337867	UBAC2	HP:0001269	Hemiparesis	HP:0040282	ORPHA:117
337867	UBAC2	HP:0001287	Meningitis	HP:0040281	ORPHA:117
337867	UBAC2	HP:0001289	Confusion	HP:0040282	ORPHA:117
337867	UBAC2	HP:0001288	Gait disturbance	HP:0040282	ORPHA:117
337867	UBAC2	HP:0001250	Seizure	HP:0040283	ORPHA:117
337867	UBAC2	HP:0001251	Ataxia	HP:0040283	ORPHA:117
337867	UBAC2	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:117
337867	UBAC2	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:117
337867	UBAC2	HP:0000099	Glomerulonephritis	HP:0040284	ORPHA:117
337867	UBAC2	HP:0001369	Arthritis	HP:0040281	ORPHA:117
337867	UBAC2	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:117
337867	UBAC2	HP:0000031	Epididymitis	HP:0040283	ORPHA:117
337867	UBAC2	HP:0002638	Superficial thrombophlebitis	HP:0040282	ORPHA:117
337867	UBAC2	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:117
337867	UBAC2	HP:0002633	Vasculitis	HP:0040281	ORPHA:117
337867	UBAC2	HP:0000155	Oral ulcer	HP:0040281	ORPHA:117
337867	UBAC2	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:117
337867	UBAC2	HP:0012121	Panuveitis	HP:0040282	ORPHA:117
337867	UBAC2	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:117
337867	UBAC2	HP:0002024	Malabsorption	HP:0040283	ORPHA:117
337867	UBAC2	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:117
337867	UBAC2	HP:0002027	Abdominal pain	HP:0040282	ORPHA:117
337867	UBAC2	HP:0003326	Myalgia	HP:0040281	ORPHA:117
337867	UBAC2	HP:0002014	Diarrhea	HP:0040284	ORPHA:117
337867	UBAC2	HP:0002076	Migraine	HP:0040281	ORPHA:117
337867	UBAC2	HP:0002039	Anorexia	HP:0040283	ORPHA:117
337867	UBAC2	HP:0100584	Endocarditis	HP:0040283	ORPHA:117
337867	UBAC2	HP:0002102	Pleuritis	HP:0040283	ORPHA:117
337867	UBAC2	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:117
337867	UBAC2	HP:0002105	Hemoptysis	HP:0040283	ORPHA:117
337867	UBAC2	HP:0003401	Paresthesia	HP:0040283	ORPHA:117
337867	UBAC2	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:117
337867	UBAC2	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:117
337867	UBAC2	HP:0002202	Pleural effusion	HP:0040283	ORPHA:117
337867	UBAC2	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:117
337867	UBAC2	HP:0100796	Orchitis	HP:0040281	ORPHA:117
337867	UBAC2	HP:0100758	Gangrene	HP:0040283	ORPHA:117
337867	UBAC2	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:117
337867	UBAC2	HP:0001061	Acne	HP:0040282	ORPHA:117
337867	UBAC2	HP:0002376	Developmental regression	HP:0040283	ORPHA:117
337867	UBAC2	HP:0002354	Memory impairment	HP:0040283	ORPHA:117
337867	UBAC2	HP:0002321	Vertigo	HP:0040283	ORPHA:117
337867	UBAC2	HP:0002315	Headache	HP:0040282	ORPHA:117
337867	UBAC2	HP:0100653	Optic neuritis	HP:0040283	ORPHA:117
337867	UBAC2	HP:0100654	Retrobulbar optic neuritis	HP:0040283	ORPHA:117
337867	UBAC2	HP:0200034	Papule	HP:0040281	ORPHA:117
337867	UBAC2	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:117
337867	UBAC2	HP:0100614	Myositis	HP:0040283	ORPHA:117
337867	UBAC2	HP:0200039	Pustule	HP:0040282	ORPHA:117
337867	UBAC2	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:117
337867	UBAC2	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:117
337867	UBAC2	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:117
337867	UBAC2	HP:4000041	AA amyloidosis	HP:0040283	ORPHA:117
337867	UBAC2	HP:0000618	Blindness	HP:0040283	ORPHA:117
337867	UBAC2	HP:0000613	Photophobia	HP:0040281	ORPHA:117
337867	UBAC2	HP:0001945	Fever	HP:0040281	ORPHA:117
337867	UBAC2	HP:0001954	Recurrent fever	HP:0040283	ORPHA:117
337867	UBAC2	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:117
337867	UBAC2	HP:0000737	Irritability	HP:0040283	ORPHA:117
337867	UBAC2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:117
337867	UBAC2	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:117
337867	UBAC2	HP:0100326	Immunologic hypersensitivity	HP:0040282	ORPHA:117
337867	UBAC2	HP:0012819	Myocarditis	HP:0040283	ORPHA:117
337867	UBAC2	HP:0003249	Genital ulcers	HP:0040282	ORPHA:117
337867	UBAC2	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:117
337867	UBAC2	HP:0002829	Arthralgia	HP:0040282	ORPHA:117
337867	UBAC2	HP:0025532	Positive pathergy test	HP:0040282	ORPHA:117
337867	UBAC2	HP:0012219	Erythema nodosum	HP:0040282	ORPHA:117
337867	UBAC2	HP:0007813	Nongranulomatous uveitis	HP:0040282	ORPHA:117
337867	UBAC2	HP:0012378	Fatigue	HP:0040281	ORPHA:117
337867	UBAC2	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:117
337867	UBAC2	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:117
337867	UBAC2	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:117
337867	UBAC2	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:117
337867	UBAC2	HP:0001733	Pancreatitis	HP:0040283	ORPHA:117
337867	UBAC2	HP:0001701	Pericarditis	HP:0040283	ORPHA:117
337867	UBAC2	HP:0000488	Retinopathy	HP:0040283	ORPHA:117
337867	UBAC2	HP:0011107	Recurrent aphthous stomatitis	HP:0040281	ORPHA:117
337867	UBAC2	HP:0001744	Splenomegaly	HP:0040283	ORPHA:117
337867	UBAC2	HP:0000518	Cataract	HP:0040283	ORPHA:117
337867	UBAC2	HP:0001824	Weight loss	HP:0040283	ORPHA:117
337867	UBAC2	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:117
338328	GPIHBP1	HP:0002583	Colitis	HP:0040283	OMIM:615947
338328	GPIHBP1	HP:0010980	Hyperlipoproteinemia	-	OMIM:615947
338328	GPIHBP1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615947
338328	GPIHBP1	HP:0002155	Hypertriglyceridemia	3/3	OMIM:615947
338328	GPIHBP1	HP:0002240	Hepatomegaly	1/1	OMIM:615947
338328	GPIHBP1	HP:0003563	Decreased LDL cholesterol concentration	1/1	OMIM:615947
338328	GPIHBP1	HP:0001013	Eruptive xanthomas	0/1	OMIM:615947
338328	GPIHBP1	HP:0000660	Lipemia retinalis	1/1	OMIM:615947
338328	GPIHBP1	HP:0100027	Recurrent pancreatitis	2/2	OMIM:615947
338328	GPIHBP1	HP:0011463	Childhood onset	1/1	OMIM:615947
338328	GPIHBP1	HP:0003233	Decreased HDL cholesterol concentration	1/1	OMIM:615947
338328	GPIHBP1	HP:0012238	Increased circulating chylomicron concentration	3/3	OMIM:615947
338328	GPIHBP1	HP:0001508	Failure to thrive	1/1	OMIM:615947
338328	GPIHBP1	HP:0005181	Premature coronary artery atherosclerosis	1/2	OMIM:615947
338328	GPIHBP1	HP:0001733	Pancreatitis	0/1	OMIM:615947
338328	GPIHBP1	HP:0001744	Splenomegaly	1/1	OMIM:615947
338328	GPIHBP1	HP:0025708	Early young adult onset	2/2	OMIM:615947
338433	SNORD115-1	HP:0001159	Syndactyly	HP:0040283	OMIM:176270
338433	SNORD115-1	HP:0007328	Impaired pain sensation	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0003745	Sporadic	-	OMIM:176270
338433	SNORD115-1	HP:0001290	Generalized hypotonia	HP:0040281	OMIM:176270
338433	SNORD115-1	HP:0001270	Motor delay	HP:0040281	OMIM:176270
338433	SNORD115-1	HP:0001250	Seizure	31/154	OMIM:176270
338433	SNORD115-1	HP:0001249	Intellectual disability	12/12	OMIM:176270
338433	SNORD115-1	HP:0002591	Polyphagia	105/165	OMIM:176270
338433	SNORD115-1	HP:0001263	Global developmental delay	HP:0040281	OMIM:176270
338433	SNORD115-1	HP:0001262	Excessive daytime somnolence	8/12	OMIM:176270
338433	SNORD115-1	HP:0000064	Hypoplastic labia minora	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0000060	Clitoral hypoplasia	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	OMIM:176270
338433	SNORD115-1	HP:0000046	Small scrotum	-	OMIM:176270
338433	SNORD115-1	HP:0000054	Micropenis	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0001385	Hip dysplasia	27/90	OMIM:176270
338433	SNORD115-1	HP:0000028	Cryptorchidism	118/130	OMIM:176270
338433	SNORD115-1	HP:0008872	Feeding difficulties in infancy	HP:0040281	OMIM:176270
338433	SNORD115-1	HP:0007513	Generalized hypopigmentation	-	OMIM:176270
338433	SNORD115-1	HP:0001328	Specific learning disability	HP:0040281	OMIM:176270
338433	SNORD115-1	HP:0000006	Autosomal dominant inheritance	-	OMIM:176270
338433	SNORD115-1	HP:0002650	Scoliosis	150/180	OMIM:176270
338433	SNORD115-1	HP:0001319	Neonatal hypotonia	244/244	OMIM:176270
338433	SNORD115-1	HP:0002791	Hypoventilation	-	OMIM:176270
338433	SNORD115-1	HP:0002714	Downturned corners of mouth	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0002033	Poor suck	HP:0040281	OMIM:176270
338433	SNORD115-1	HP:0005968	Temperature instability	HP:0040283	OMIM:176270
338433	SNORD115-1	HP:0005978	Type II diabetes mellitus	12/82	OMIM:176270
338433	SNORD115-1	HP:0030919	Low 5-minute APGAR score	14/244	OMIM:176270
338433	SNORD115-1	HP:0030918	Low 1-minute APGAR score	55/244	OMIM:176270
338433	SNORD115-1	HP:0009466	Radial deviation of finger	HP:0040283	OMIM:176270
338433	SNORD115-1	HP:0002155	Hypertriglyceridemia	10/66	OMIM:176270
338433	SNORD115-1	HP:0002119	Ventriculomegaly	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0010535	Sleep apnea	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0003577	Congenital onset	98/244	OMIM:176270
338433	SNORD115-1	HP:0002236	Frontal upsweep of hair	HP:0040283	OMIM:176270
338433	SNORD115-1	HP:0100716	Self-injurious behavior	50/62	OMIM:176270
338433	SNORD115-1	HP:0002205	Recurrent respiratory infections	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0007010	Poor fine motor coordination	HP:0040283	OMIM:176270
338433	SNORD115-1	HP:0007015	Poor gross motor coordination	-	OMIM:176270
338433	SNORD115-1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0002360	Sleep abnormality	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0200055	Small hand	-	OMIM:176270
338433	SNORD115-1	HP:0033454	Tube feeding	216/244	OMIM:176270
338433	SNORD115-1	HP:0031878	Acromicria	-	OMIM:176270
338433	SNORD115-1	HP:0004283	Narrow palm	HP:0040281	OMIM:176270
338433	SNORD115-1	HP:0004279	Short palm	HP:0040281	OMIM:176270
338433	SNORD115-1	HP:0000670	Carious teeth	HP:0040283	OMIM:176270
338433	SNORD115-1	HP:0004322	Short stature	HP:0040281	OMIM:176270
338433	SNORD115-1	HP:0012743	Abdominal obesity	-	OMIM:176270
338433	SNORD115-1	HP:0000750	Delayed speech and language development	HP:0040281	OMIM:176270
338433	SNORD115-1	HP:0000717	Autism	210/786	OMIM:176270
338433	SNORD115-1	HP:0000709	Psychosis	18/92	OMIM:176270
338433	SNORD115-1	HP:0000708	Atypical behavior	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0011461	Fetal onset	146/244	OMIM:176270
338433	SNORD115-1	HP:0000789	Infertility	HP:0040281	OMIM:176270
338433	SNORD115-1	HP:0000786	Primary amenorrhea	1/7	OMIM:176270
338433	SNORD115-1	HP:0003124	Hypercholesterolemia	42/66	OMIM:176270
338433	SNORD115-1	HP:0003199	Decreased muscle mass	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0000876	Oligomenorrhea	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0000846	Adrenal insufficiency	1/82	OMIM:176270
338433	SNORD115-1	HP:0000842	Hyperinsulinemia	-	OMIM:176270
338433	SNORD115-1	HP:0000826	Precocious puberty	-	OMIM:176270
338433	SNORD115-1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040281	OMIM:176270
338433	SNORD115-1	HP:0000823	Delayed puberty	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0003233	Decreased HDL cholesterol concentration	23/66	OMIM:176270
338433	SNORD115-1	HP:0003241	External genital hypoplasia	HP:0040281	OMIM:176270
338433	SNORD115-1	HP:0000992	Cutaneous photosensitivity	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0000969	Edema	9/12	OMIM:176270
338433	SNORD115-1	HP:0000939	Osteoporosis	2/12	OMIM:176270
338433	SNORD115-1	HP:0000938	Osteopenia	HP:0040283	OMIM:176270
338433	SNORD115-1	HP:0000268	Dolichocephaly	-	OMIM:176270
338433	SNORD115-1	HP:0030084	Clinodactyly	-	OMIM:176270
338433	SNORD115-1	HP:0002808	Kyphosis	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0000219	Thin upper lip vermilion	15/20	OMIM:176270
338433	SNORD115-1	HP:0001562	Oligohydramnios	16/244	OMIM:176270
338433	SNORD115-1	HP:0001561	Polyhydramnios	57/244	OMIM:176270
338433	SNORD115-1	HP:0001558	Decreased fetal movement	146/244	OMIM:176270
338433	SNORD115-1	HP:0025501	Class III obesity	90/165	OMIM:176270
338433	SNORD115-1	HP:0001531	Failure to thrive in infancy	HP:0040281	OMIM:176270
338433	SNORD115-1	HP:0002857	Genu valgum	-	OMIM:176270
338433	SNORD115-1	HP:0001511	Intrauterine growth retardation	50/244	OMIM:176270
338433	SNORD115-1	HP:0001513	Obesity	85/180	OMIM:176270
338433	SNORD115-1	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0001611	Hypernasal speech	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0000341	Narrow forehead	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0001623	Breech presentation	70/244	OMIM:176270
338433	SNORD115-1	HP:0000486	Strabismus	-	OMIM:176270
338433	SNORD115-1	HP:0012450	Chronic constipation	5/12	OMIM:176270
338433	SNORD115-1	HP:0001773	Short foot	HP:0040281	OMIM:176270
338433	SNORD115-1	HP:0000446	Narrow nasal bridge	HP:0040282	OMIM:176270
338433	SNORD115-1	HP:0000582	Upslanted palpebral fissure	HP:0040283	OMIM:176270
338433	SNORD115-1	HP:0000565	Esotropia	HP:0040283	OMIM:176270
338433	SNORD115-1	HP:0000540	Hypermetropia	-	OMIM:176270
338433	SNORD115-1	HP:0000545	Myopia	HP:0040283	OMIM:176270
338567	KCNK18	HP:0000006	Autosomal dominant inheritance	-	OMIM:613656
338567	KCNK18	HP:0002083	Migraine without aura	-	OMIM:613656
338567	KCNK18	HP:0002077	Migraine with aura	-	OMIM:613656
338657	CENATAC	HP:0000007	Autosomal recessive inheritance	-	OMIM:620153
338657	CENATAC	HP:0011342	Mild global developmental delay	2/2	OMIM:620153
338657	CENATAC	HP:0003220	Abnormality of chromosome stability	-	OMIM:620153
338657	CENATAC	HP:0000252	Microcephaly	2/2	OMIM:620153
338917	VSX2	HP:0001249	Intellectual disability	0/6	OMIM:610093
338917	VSX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:610092
338917	VSX2	HP:0000007	Autosomal recessive inheritance	-	OMIM:610093
338917	VSX2	HP:0003577	Congenital onset	6/6	OMIM:610093
338917	VSX2	HP:0000612	Iris coloboma	-	OMIM:610092
338917	VSX2	HP:0007759	Opacification of the corneal stroma	6/6	OMIM:610093
338917	VSX2	HP:0000518	Cataract	-	OMIM:610092
338917	VSX2	HP:0000568	Microphthalmia	-	OMIM:610092
338917	VSX2	HP:0000568	Microphthalmia	6/6	OMIM:610093
339453	TMEM240	HP:0001272	Cerebellar atrophy	3/4	OMIM:607454
339453	TMEM240	HP:0001268	Mental deterioration	3/5	OMIM:607454
339453	TMEM240	HP:0001251	Ataxia	5/5	OMIM:607454
339453	TMEM240	HP:0001249	Intellectual disability	HP:0040282	ORPHA:98773
339453	TMEM240	HP:0001249	Intellectual disability	2/5	OMIM:607454
339453	TMEM240	HP:0001265	Hyporeflexia	-	OMIM:607454
339453	TMEM240	HP:0001260	Dysarthria	HP:0040282	ORPHA:98773
339453	TMEM240	HP:0001260	Dysarthria	2/5	OMIM:607454
339453	TMEM240	HP:0001263	Global developmental delay	2/5	OMIM:607454
339453	TMEM240	HP:0007338	Hypermetric saccades	2/5	OMIM:607454
339453	TMEM240	HP:0001332	Dystonia	1/5	OMIM:607454
339453	TMEM240	HP:0001337	Tremor	HP:0040282	ORPHA:98773
339453	TMEM240	HP:0000006	Autosomal dominant inheritance	-	OMIM:607454
339453	TMEM240	HP:0001300	Parkinsonism	-	OMIM:607454
339453	TMEM240	HP:0002080	Intention tremor	2/5	OMIM:607454
339453	TMEM240	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:98773
339453	TMEM240	HP:0100543	Cognitive impairment	-	OMIM:607454
339453	TMEM240	HP:0002066	Gait ataxia	HP:0040281	ORPHA:98773
339453	TMEM240	HP:0002066	Gait ataxia	5/5	OMIM:607454
339453	TMEM240	HP:0002063	Rigidity	HP:0040282	ORPHA:98773
339453	TMEM240	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:98773
339453	TMEM240	HP:0002073	Progressive cerebellar ataxia	-	OMIM:607454
339453	TMEM240	HP:0002070	Limb ataxia	-	OMIM:607454
339453	TMEM240	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:98773
339453	TMEM240	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:607454
339453	TMEM240	HP:0002188	Delayed CNS myelination	1/5	OMIM:607454
339453	TMEM240	HP:0002168	Scanning speech	-	OMIM:607454
339453	TMEM240	HP:0002174	Postural tremor	3/5	OMIM:607454
339453	TMEM240	HP:0010543	Opsoclonus	1/5	OMIM:607454
339453	TMEM240	HP:0010526	Dysgraphia	HP:0040282	ORPHA:98773
339453	TMEM240	HP:0010526	Dysgraphia	-	OMIM:607454
339453	TMEM240	HP:0003596	Middle age onset	3/5	OMIM:607454
339453	TMEM240	HP:0100710	Impulsivity	1/5	OMIM:607454
339453	TMEM240	HP:0002396	Cogwheel rigidity	-	OMIM:607454
339453	TMEM240	HP:0003677	Slowly progressive	-	OMIM:607454
339453	TMEM240	HP:0003623	Neonatal onset	1/5	OMIM:607454
339453	TMEM240	HP:0002304	Akinesia	HP:0040282	ORPHA:98773
339453	TMEM240	HP:0002304	Akinesia	-	OMIM:607454
339453	TMEM240	HP:0006855	Cerebellar vermis atrophy	HP:0040282	ORPHA:98773
339453	TMEM240	HP:0000639	Nystagmus	HP:0040282	ORPHA:98773
339453	TMEM240	HP:0000639	Nystagmus	2/5	OMIM:607454
339453	TMEM240	HP:0000651	Diplopia	HP:0040283	ORPHA:98773
339453	TMEM240	HP:0000741	Apathy	-	OMIM:607454
339453	TMEM240	HP:0000718	Aggressive behavior	-	OMIM:607454
339453	TMEM240	HP:0000708	Atypical behavior	HP:0040282	ORPHA:98773
339453	TMEM240	HP:0011463	Childhood onset	1/5	OMIM:607454
339453	TMEM240	HP:0007792	Microsaccadic pursuit	-	OMIM:607454
339453	TMEM240	HP:0007944	Intermittent microsaccadic pursuits	HP:0040281	ORPHA:98773
339453	TMEM240	HP:0000486	Strabismus	1/5	OMIM:607454
339453	TMEM240	HP:0000514	Slow saccadic eye movements	-	OMIM:607454
339829	CCDC39	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
339829	CCDC39	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
339829	CCDC39	HP:0001217	Clubbing	HP:0040283	ORPHA:244
339829	CCDC39	HP:0000007	Autosomal recessive inheritance	-	OMIM:613807
339829	CCDC39	HP:0002643	Neonatal respiratory distress	9/11	OMIM:613807
339829	CCDC39	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
339829	CCDC39	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
339829	CCDC39	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
339829	CCDC39	HP:0031245	Productive cough	HP:0040282	ORPHA:244
339829	CCDC39	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
339829	CCDC39	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
339829	CCDC39	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
339829	CCDC39	HP:0002110	Bronchiectasis	9/10	OMIM:613807
339829	CCDC39	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
339829	CCDC39	HP:0008222	Female infertility	HP:0040283	ORPHA:244
339829	CCDC39	HP:0003593	Infantile onset	2/11	OMIM:613807
339829	CCDC39	HP:0003577	Congenital onset	2/11	OMIM:613807
339829	CCDC39	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
339829	CCDC39	HP:0002205	Recurrent respiratory infections	21/21	OMIM:613807
339829	CCDC39	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
339829	CCDC39	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
339829	CCDC39	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
339829	CCDC39	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
339829	CCDC39	HP:0003621	Juvenile onset	4/11	OMIM:613807
339829	CCDC39	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
339829	CCDC39	HP:0012735	Cough	9/9	OMIM:613807
339829	CCDC39	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
339829	CCDC39	HP:0011463	Childhood onset	2/11	OMIM:613807
339829	CCDC39	HP:0011462	Young adult onset	1/11	OMIM:613807
339829	CCDC39	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
339829	CCDC39	HP:0004469	Chronic bronchitis	9/9	OMIM:613807
339829	CCDC39	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
339829	CCDC39	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
339829	CCDC39	HP:0030853	Heterotaxy	3/19	OMIM:613807
339829	CCDC39	HP:0030828	Wheezing	HP:0040283	ORPHA:244
339829	CCDC39	HP:0030828	Wheezing	9/9	OMIM:613807
339829	CCDC39	HP:0003251	Male infertility	-	OMIM:613807
339829	CCDC39	HP:0003251	Male infertility	HP:0040282	ORPHA:244
339829	CCDC39	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
339829	CCDC39	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
339829	CCDC39	HP:0012257	Absent inner dynein arms	-	OMIM:613807
339829	CCDC39	HP:0012258	Abnormal axonemal organization of respiratory motile cilia	-	OMIM:613807
339829	CCDC39	HP:0012265	Ciliary dyskinesia	-	OMIM:613807
339829	CCDC39	HP:0012262	Abnormal ciliary motility	-	OMIM:613807
339829	CCDC39	HP:0031417	Rhinorrhea	11/11	OMIM:613807
339829	CCDC39	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
339829	CCDC39	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
339829	CCDC39	HP:0012207	Reduced sperm motility	4/7	OMIM:613807
339829	CCDC39	HP:0012208	Immotile sperm	3/3	OMIM:613807
339829	CCDC39	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
339829	CCDC39	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
339829	CCDC39	HP:0000388	Otitis media	-	OMIM:613807
339829	CCDC39	HP:0006532	Recurrent pneumonia	5/11	OMIM:613807
339829	CCDC39	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
339829	CCDC39	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
339829	CCDC39	HP:0001696	Situs inversus totalis	10/19	OMIM:613807
339829	CCDC39	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
339829	CCDC39	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
339829	CCDC39	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
339829	CCDC39	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
339829	CCDC39	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
339829	CCDC39	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
339829	CCDC39	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
339829	CCDC39	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
339829	CCDC39	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
339829	CCDC39	HP:0011109	Chronic sinusitis	11/11	OMIM:613807
339829	CCDC39	HP:0001746	Asplenia	HP:0040284	ORPHA:244
339829	CCDC39	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
339829	CCDC39	HP:0001748	Polysplenia	2/19	OMIM:613807
339829	CCDC39	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
339829	CCDC39	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
339829	CCDC39	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
339829	CCDC39	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
339855	KY	HP:0003798	Nemaline bodies	1/1	OMIM:617114
339855	KY	HP:0020203	Z-band streaming	1/1	OMIM:617114
339855	KY	HP:0007210	Lower limb amyotrophy	HP:0040282	ORPHA:496689
339855	KY	HP:0001272	Cerebellar atrophy	-	ORPHA:496689
339855	KY	HP:0001288	Gait disturbance	1/1	OMIM:617114
339855	KY	HP:0001249	Intellectual disability	HP:0040283	ORPHA:496689
339855	KY	HP:0001265	Hyporeflexia	1/1	OMIM:617114
339855	KY	HP:0001263	Global developmental delay	1/2	OMIM:617114
339855	KY	HP:0001371	Flexion contracture	1/1	OMIM:617114
339855	KY	HP:0000020	Urinary incontinence	1/1	OMIM:617114
339855	KY	HP:0001324	Muscle weakness	4/4	OMIM:617114
339855	KY	HP:0000007	Autosomal recessive inheritance	-	OMIM:617114
339855	KY	HP:0002650	Scoliosis	1/1	OMIM:617114
339855	KY	HP:0002607	Bowel incontinence	1/1	OMIM:617114
339855	KY	HP:0025435	Increased circulating lactate dehydrogenase concentration	1/1	OMIM:617114
339855	KY	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040282	ORPHA:496689
339855	KY	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:496689
339855	KY	HP:0003326	Myalgia	2/2	OMIM:617114
339855	KY	HP:0002015	Dysphagia	1/2	OMIM:617114
339855	KY	HP:0002015	Dysphagia	HP:0040283	ORPHA:496689
339855	KY	HP:0003306	Spinal rigidity	2/2	OMIM:617114
339855	KY	HP:0003394	Muscle spasm	HP:0040282	ORPHA:496689
339855	KY	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:496689
339855	KY	HP:0002059	Cerebral atrophy	-	ORPHA:496689
339855	KY	HP:0003487	Babinski sign	HP:0040283	ORPHA:496689
339855	KY	HP:0010602	Type 2 muscle fiber predominance	1/1	OMIM:617114
339855	KY	HP:0002194	Delayed gross motor development	HP:0040282	ORPHA:496689
339855	KY	HP:0003577	Congenital onset	2/2	OMIM:617114
339855	KY	HP:0003557	Increased variability in muscle fiber diameter	1/1	OMIM:617114
339855	KY	HP:0010677	Enuresis nocturna	1/1	OMIM:617114
339855	KY	HP:0007020	Progressive spastic paraplegia	HP:0040282	ORPHA:496689
339855	KY	HP:0010628	Facial palsy	2/2	OMIM:617114
339855	KY	HP:0002395	Lower limb hyperreflexia	HP:0040282	ORPHA:496689
339855	KY	HP:0003698	Difficulty standing	HP:0040282	ORPHA:496689
339855	KY	HP:0003677	Slowly progressive	-	OMIM:617114
339855	KY	HP:0009046	Difficulty running	HP:0040282	ORPHA:496689
339855	KY	HP:0009027	Foot dorsiflexor weakness	1/1	OMIM:617114
339855	KY	HP:0003044	Shoulder flexion contracture	1/1	OMIM:617114
339855	KY	HP:0000708	Atypical behavior	1/2	OMIM:617114
339855	KY	HP:0009129	Upper limb amyotrophy	HP:0040282	ORPHA:496689
339855	KY	HP:0003093	Limited hip extension	1/1	OMIM:617114
339855	KY	HP:0040081	Abnormal circulating creatine kinase concentration	-	ORPHA:496689
339855	KY	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:617114
339855	KY	HP:0003202	Skeletal muscle atrophy	4/4	OMIM:617114
339855	KY	HP:0033008	Increased Z-disc width	1/1	OMIM:617114
339855	KY	HP:0002828	Multiple joint contractures	2/2	OMIM:617114
339855	KY	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:496689
339855	KY	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:496689
339855	KY	HP:0002938	Lumbar hyperlordosis	1/1	OMIM:617114
339855	KY	HP:0002942	Thoracic kyphosis	2/2	OMIM:617114
339855	KY	HP:0002987	Elbow flexion contracture	1/1	OMIM:617114
339855	KY	HP:0012473	Tongue atrophy	2/2	OMIM:617114
339855	KY	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:496689
339855	KY	HP:0001771	Achilles tendon contracture	1/1	OMIM:617114
339855	KY	HP:0001762	Talipes equinovarus	1/1	OMIM:617114
339855	KY	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:496689
339855	KY	HP:0001761	Pes cavus	1/1	OMIM:617114
339855	KY	HP:0012531	Pain	HP:0040282	ORPHA:496689
339983	NAT8L	HP:0001290	Generalized hypotonia	-	OMIM:614063
339983	NAT8L	HP:0001250	Seizure	1/1	OMIM:614063
339983	NAT8L	HP:0001263	Global developmental delay	1/1	OMIM:614063
339983	NAT8L	HP:0025336	Delayed ability to sit	1/1	OMIM:614063
339983	NAT8L	HP:0000023	Inguinal hernia	-	OMIM:614063
339983	NAT8L	HP:0000007	Autosomal recessive inheritance	-	OMIM:614063
339983	NAT8L	HP:0002078	Truncal ataxia	1/1	OMIM:614063
339983	NAT8L	HP:0002136	Broad-based gait	1/1	OMIM:614063
339983	NAT8L	HP:0002317	Unsteady gait	-	OMIM:614063
339983	NAT8L	HP:0004325	Decreased body weight	-	OMIM:614063
339983	NAT8L	HP:0004322	Short stature	-	OMIM:614063
339983	NAT8L	HP:0000733	Motor stereotypy	-	OMIM:614063
339983	NAT8L	HP:0000736	Short attention span	-	OMIM:614063
339983	NAT8L	HP:0000742	Self-mutilation	-	OMIM:614063
339983	NAT8L	HP:0012708	Reduced brain N-acetyl aspartate level by MRS	1/1	OMIM:614063
339983	NAT8L	HP:0011463	Childhood onset	1/1	OMIM:614063
339983	NAT8L	HP:0000252	Microcephaly	-	OMIM:614063
339983	NAT8L	HP:0005484	Secondary microcephaly	1/1	OMIM:614063
340024	SLC6A19	HP:0001276	Hypertonia	-	OMIM:234500
340024	SLC6A19	HP:0001250	Seizure	-	OMIM:234500
340024	SLC6A19	HP:0001250	Seizure	HP:0040283	ORPHA:2116
340024	SLC6A19	HP:0001252	Hypotonia	HP:0040281	ORPHA:2116
340024	SLC6A19	HP:0001251	Ataxia	HP:0040281	ORPHA:2116
340024	SLC6A19	HP:0001249	Intellectual disability	1/1	OMIM:234500
340024	SLC6A19	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2116
340024	SLC6A19	HP:0001263	Global developmental delay	-	OMIM:234500
340024	SLC6A19	HP:0001263	Global developmental delay	HP:0040283	ORPHA:2116
340024	SLC6A19	HP:0007400	Irregular hyperpigmentation	HP:0040283	ORPHA:2116
340024	SLC6A19	HP:0001347	Hyperreflexia	-	OMIM:234500
340024	SLC6A19	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:2116
340024	SLC6A19	HP:0012086	Abnormal urinary color	HP:0040281	ORPHA:2116
340024	SLC6A19	HP:0000007	Autosomal recessive inheritance	-	OMIM:234500
340024	SLC6A19	HP:0001337	Tremor	HP:0040282	ORPHA:2116
340024	SLC6A19	HP:0002024	Malabsorption	HP:0040282	ORPHA:2116
340024	SLC6A19	HP:0002076	Migraine	HP:0040281	ORPHA:2116
340024	SLC6A19	HP:6000130	Elevated urinary indican level	HP:0040282	ORPHA:2116
340024	SLC6A19	HP:0002154	Hyperglycinemia	-	ORPHA:42062
340024	SLC6A19	HP:0002131	Episodic ataxia	-	OMIM:234500
340024	SLC6A19	HP:6000332	Elevated urinary indoleacetic acid level	2/2	OMIM:234500
340024	SLC6A19	HP:0008353	Neutral hyperaminoaciduria	HP:0040281	ORPHA:2116
340024	SLC6A19	HP:0008353	Neutral hyperaminoaciduria	1/1	OMIM:234500
340024	SLC6A19	HP:0008358	Hyperprolinemia	-	ORPHA:42062
340024	SLC6A19	HP:0007018	Attention deficit hyperactivity disorder	1/1	OMIM:234500
340024	SLC6A19	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:2116
340024	SLC6A19	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:2116
340024	SLC6A19	HP:0002353	EEG abnormality	HP:0040281	ORPHA:2116
340024	SLC6A19	HP:0010818	Generalized tonic seizure	1/1	OMIM:234500
340024	SLC6A19	HP:0000639	Nystagmus	HP:0040282	ORPHA:2116
340024	SLC6A19	HP:0000613	Photophobia	HP:0040282	ORPHA:2116
340024	SLC6A19	HP:0004322	Short stature	HP:0040283	OMIM:234500
340024	SLC6A19	HP:0004322	Short stature	HP:0040283	ORPHA:2116
340024	SLC6A19	HP:0003080	Hydroxyprolinuria	HP:0040280	ORPHA:42062
340024	SLC6A19	HP:0000752	Hyperactivity	1/1	OMIM:234500
340024	SLC6A19	HP:0000738	Hallucinations	HP:0040281	ORPHA:2116
340024	SLC6A19	HP:0000739	Anxiety	HP:0040281	ORPHA:2116
340024	SLC6A19	HP:0000750	Delayed speech and language development	1/1	OMIM:234500
340024	SLC6A19	HP:0000712	Emotional lability	-	OMIM:234500
340024	SLC6A19	HP:0000712	Emotional lability	HP:0040281	ORPHA:2116
340024	SLC6A19	HP:0000709	Psychosis	-	OMIM:234500
340024	SLC6A19	HP:0000709	Psychosis	HP:0040283	ORPHA:2116
340024	SLC6A19	HP:0011463	Childhood onset	1/1	OMIM:234500
340024	SLC6A19	HP:0003108	Hyperglycinuria	HP:0040280	ORPHA:42062
340024	SLC6A19	HP:0003137	Prolinuria	HP:0040280	ORPHA:42062
340024	SLC6A19	HP:0003260	Hydroxyprolinemia	-	ORPHA:42062
340024	SLC6A19	HP:0000992	Cutaneous photosensitivity	1/1	OMIM:234500
340024	SLC6A19	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:2116
340024	SLC6A19	HP:0000988	Skin rash	HP:0040282	ORPHA:2116
340024	SLC6A19	HP:0008066	Abnormal blistering of the skin	HP:0040283	ORPHA:2116
340024	SLC6A19	HP:0000230	Gingivitis	HP:0040283	ORPHA:2116
340024	SLC6A19	HP:0000206	Glossitis	HP:0040283	ORPHA:2116
340024	SLC6A19	HP:0000206	Glossitis	HP:0040283	OMIM:234500
340024	SLC6A19	HP:0000486	Strabismus	HP:0040282	ORPHA:2116
340024	SLC6A19	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:2116
340061	STING1	HP:0033505	Livedo reticularis	6/6	OMIM:615934
340061	STING1	HP:0032230	Cytoplasmic antineutrophil antibody positivity	1/6	OMIM:615934
340061	STING1	HP:0033605	Pustular rash	6/6	OMIM:615934
340061	STING1	HP:0001387	Joint stiffness	2/6	OMIM:615934
340061	STING1	HP:0025300	Malar rash	3/4	OMIM:615934
340061	STING1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615934
340061	STING1	HP:0002789	Tachypnea	2/6	OMIM:615934
340061	STING1	HP:0002719	Recurrent infections	6/6	OMIM:615934
340061	STING1	HP:0002729	Follicular hyperplasia	3/3	OMIM:615934
340061	STING1	HP:0003493	Antinuclear antibody positivity	6/10	OMIM:615934
340061	STING1	HP:0033250	Nailfold capillary tortuosity	3/3	OMIM:615934
340061	STING1	HP:0033280	Paratracheal lymphadenopathy	6/6	OMIM:615934
340061	STING1	HP:0003593	Infantile onset	2/6	OMIM:615934
340061	STING1	HP:0003565	Elevated erythrocyte sedimentation rate	9/9	OMIM:615934
340061	STING1	HP:0002205	Recurrent respiratory infections	-	OMIM:615934
340061	STING1	HP:0002206	Pulmonary fibrosis	6/10	OMIM:615934
340061	STING1	HP:0008404	Nail dystrophy	6/6	OMIM:615934
340061	STING1	HP:0001009	Telangiectasia	6/6	OMIM:615934
340061	STING1	HP:0100614	Myositis	2/5	OMIM:615934
340061	STING1	HP:0200039	Pustule	-	OMIM:615934
340061	STING1	HP:0010783	Erythema	-	OMIM:615934
340061	STING1	HP:0003623	Neonatal onset	4/6	OMIM:615934
340061	STING1	HP:0003613	Antiphospholipid antibody positivity	5/6	OMIM:615934
340061	STING1	HP:0033425	Periungual erythema	3/3	OMIM:615934
340061	STING1	HP:0033434	Nasal septum perforation	4/6	OMIM:615934
340061	STING1	HP:0001954	Recurrent fever	3/4	OMIM:615934
340061	STING1	HP:0001903	Anemia	2/5	OMIM:615934
340061	STING1	HP:0003237	Increased circulating IgG concentration	5/5	OMIM:615934
340061	STING1	HP:0030880	Raynaud phenomenon	4/4	OMIM:615934
340061	STING1	HP:0003202	Skeletal muscle atrophy	2/6	OMIM:615934
340061	STING1	HP:0003261	Increased circulating IgA concentration	5/5	OMIM:615934
340061	STING1	HP:0000988	Skin rash	-	OMIM:615934
340061	STING1	HP:0000965	Cutis marmorata	6/6	OMIM:615934
340061	STING1	HP:0008070	Sparse hair	3/4	OMIM:615934
340061	STING1	HP:0002829	Arthralgia	2/6	OMIM:615934
340061	STING1	HP:0001508	Failure to thrive	10/10	OMIM:615934
340061	STING1	HP:0002923	Rheumatoid factor positive	4/4	OMIM:615934
340061	STING1	HP:0011227	Elevated circulating C-reactive protein concentration	9/9	OMIM:615934
340061	STING1	HP:0001894	Thrombocytosis	4/5	OMIM:615934
340061	STING1	HP:0001888	Decreased total lymphocyte count	5/5	OMIM:615934
340061	STING1	HP:0001882	Decreased total leukocyte count	5/6	OMIM:615934
340075	ARSI	HP:0007210	Lower limb amyotrophy	HP:0040282	ORPHA:401815
340075	ARSI	HP:0001288	Gait disturbance	HP:0040282	ORPHA:401815
340075	ARSI	HP:0001284	Areflexia	HP:0040282	ORPHA:401815
340075	ARSI	HP:0001249	Intellectual disability	HP:0040282	ORPHA:401815
340075	ARSI	HP:0002509	Limb hypertonia	HP:0040282	ORPHA:401815
340075	ARSI	HP:0001301	Chronic sensorineural polyneuropathy	HP:0040282	ORPHA:401815
340075	ARSI	HP:0001321	Cerebellar hypoplasia	HP:0040282	ORPHA:401815
340075	ARSI	HP:0002064	Spastic gait	HP:0040282	ORPHA:401815
340075	ARSI	HP:0002061	Lower limb spasticity	HP:0040282	ORPHA:401815
340075	ARSI	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:401815
340075	ARSI	HP:0002166	Impaired vibration sensation in the lower limbs	HP:0040282	ORPHA:401815
340075	ARSI	HP:0007020	Progressive spastic paraplegia	HP:0040282	ORPHA:401815
340075	ARSI	HP:0030048	Colpocephaly	HP:0040282	ORPHA:401815
340075	ARSI	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:401815
340419	RSPO2	HP:0009924	Aplasia/Hypoplasia involving the nose	HP:0040281	ORPHA:3301
340419	RSPO2	HP:0008551	Microtia	HP:0040281	ORPHA:3301
340419	RSPO2	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
340419	RSPO2	HP:0001293	Cranial nerve compression	-	OMIM:131300
340419	RSPO2	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0001252	Hypotonia	2/7	OMIM:615777
340419	RSPO2	HP:0001249	Intellectual disability	5/7	OMIM:615777
340419	RSPO2	HP:0001263	Global developmental delay	-	OMIM:615777
340419	RSPO2	HP:0002561	Absent nipple	1/7	OMIM:618021
340419	RSPO2	HP:0100842	Septo-optic dysplasia	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0003865	Bowed humerus	1/4	OMIM:618022
340419	RSPO2	HP:0002515	Waddling gait	54/102	OMIM:131300
340419	RSPO2	HP:0000046	Small scrotum	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0000054	Micropenis	1/3	OMIM:618021
340419	RSPO2	HP:0001382	Joint hypermobility	-	OMIM:615777
340419	RSPO2	HP:0002694	Sclerosis of skull base	-	OMIM:131300
340419	RSPO2	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0008897	Postnatal growth retardation	-	OMIM:615777
340419	RSPO2	HP:0008839	Hypoplastic pelvis	1/4	OMIM:618022
340419	RSPO2	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
340419	RSPO2	HP:0001324	Muscle weakness	40/96	OMIM:131300
340419	RSPO2	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
340419	RSPO2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618021
340419	RSPO2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618022
340419	RSPO2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
340419	RSPO2	HP:0000003	Multicystic kidney dysplasia	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
340419	RSPO2	HP:0002650	Scoliosis	12/14	OMIM:131300
340419	RSPO2	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
340419	RSPO2	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
340419	RSPO2	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
340419	RSPO2	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
340419	RSPO2	HP:0000160	Narrow mouth	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0000162	Glossoptosis	1/7	OMIM:618021
340419	RSPO2	HP:0000175	Cleft palate	6/7	OMIM:618021
340419	RSPO2	HP:0000175	Cleft palate	2/7	OMIM:615777
340419	RSPO2	HP:0000148	Vaginal atresia	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0002777	Tracheal stenosis	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0002023	Anal atresia	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0005944	Bilateral lung agenesis	5/7	OMIM:618021
340419	RSPO2	HP:0002057	Prominent glabella	1/4	OMIM:618022
340419	RSPO2	HP:0003388	Easy fatigability	36/76	OMIM:131300
340419	RSPO2	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
340419	RSPO2	HP:0100569	Abnormally ossified vertebrae	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0010494	Acromelia of the lower limbs	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0002101	Abnormal lung lobation	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0003577	Congenital onset	7/7	OMIM:618021
340419	RSPO2	HP:0003510	Severe short stature	7/7	OMIM:615777
340419	RSPO2	HP:0002315	Headache	-	OMIM:131300
340419	RSPO2	HP:0004976	Knee dislocation	6/7	OMIM:615777
340419	RSPO2	HP:0009827	Amelia	7/7	OMIM:618021
340419	RSPO2	HP:0009812	Amelia involving the upper limbs	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0009803	Short phalanx of finger	-	OMIM:615777
340419	RSPO2	HP:0009777	Absent thumb	3/4	OMIM:618022
340419	RSPO2	HP:0009763	Limb pain	63/92	OMIM:131300
340419	RSPO2	HP:0003621	Juvenile onset	-	OMIM:131300
340419	RSPO2	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
340419	RSPO2	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
340419	RSPO2	HP:6001056	Out-toeing	-	OMIM:131300
340419	RSPO2	HP:0000651	Diplopia	-	OMIM:131300
340419	RSPO2	HP:0000648	Optic atrophy	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0000612	Iris coloboma	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0001956	Truncal obesity	2/7	OMIM:615777
340419	RSPO2	HP:0001903	Anemia	HP:0040283	OMIM:131300
340419	RSPO2	HP:0010049	Short metacarpal	-	OMIM:615777
340419	RSPO2	HP:0000678	Dental crowding	-	OMIM:615777
340419	RSPO2	HP:0000670	Carious teeth	-	OMIM:131300
340419	RSPO2	HP:0011304	Broad thumb	2/7	OMIM:615777
340419	RSPO2	HP:0000668	Hypodontia	-	OMIM:615777
340419	RSPO2	HP:0000664	Synophrys	-	OMIM:615777
340419	RSPO2	HP:0030674	Antenatal onset	4/4	OMIM:618022
340419	RSPO2	HP:0003057	Tetraamelia	HP:0040281	ORPHA:3301
340419	RSPO2	HP:0004396	Poor appetite	-	OMIM:131300
340419	RSPO2	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
340419	RSPO2	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
340419	RSPO2	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
340419	RSPO2	HP:0003026	Short long bone	7/7	OMIM:615777
340419	RSPO2	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
340419	RSPO2	HP:0009103	Aplasia/Hypoplasia involving the pelvis	HP:0040281	ORPHA:3301
340419	RSPO2	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0000767	Pectus excavatum	2/7	OMIM:615777
340419	RSPO2	HP:0000768	Pectus carinatum	1/7	OMIM:615777
340419	RSPO2	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
340419	RSPO2	HP:0000750	Delayed speech and language development	-	OMIM:615777
340419	RSPO2	HP:0011461	Fetal onset	7/7	OMIM:615777
340419	RSPO2	HP:0000774	Narrow chest	2/7	OMIM:615777
340419	RSPO2	HP:0000776	Congenital diaphragmatic hernia	1/4	OMIM:618022
340419	RSPO2	HP:0000926	Platyspondyly	1/7	OMIM:615777
340419	RSPO2	HP:0000921	Missing ribs	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0003180	Flat acetabular roof	-	OMIM:615777
340419	RSPO2	HP:0004482	Relative macrocephaly	-	OMIM:615777
340419	RSPO2	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
340419	RSPO2	HP:0000882	Hypoplastic scapulae	1/4	OMIM:618022
340419	RSPO2	HP:0100336	Bilateral cleft lip	4/7	OMIM:618021
340419	RSPO2	HP:0100335	Non-midline cleft of the upper lip	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0000823	Delayed puberty	-	OMIM:131300
340419	RSPO2	HP:0010296	Ankyloglossia	2/7	OMIM:618021
340419	RSPO2	HP:0000894	Short clavicles	-	OMIM:618022
340419	RSPO2	HP:0000894	Short clavicles	-	OMIM:615777
340419	RSPO2	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
340419	RSPO2	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
340419	RSPO2	HP:0000286	Epicanthus	1/7	OMIM:615777
340419	RSPO2	HP:0000280	Coarse facial features	2/7	OMIM:615777
340419	RSPO2	HP:0000278	Retrognathia	1/4	OMIM:618022
340419	RSPO2	HP:0000293	Full cheeks	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0002827	Hip dislocation	3/7	OMIM:615777
340419	RSPO2	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:3301
340419	RSPO2	HP:0000252	Microcephaly	-	OMIM:615777
340419	RSPO2	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:3301
340419	RSPO2	HP:0002857	Genu valgum	-	OMIM:131300
340419	RSPO2	HP:0000202	Orofacial cleft	HP:0040281	ORPHA:3301
340419	RSPO2	HP:0001533	Slender build	-	OMIM:131300
340419	RSPO2	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
340419	RSPO2	HP:0007807	Optic nerve compression	-	OMIM:131300
340419	RSPO2	HP:0012368	Flat face	7/7	OMIM:615777
340419	RSPO2	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
340419	RSPO2	HP:0001600	Abnormality of the larynx	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0000365	Hearing impairment	10/67	OMIM:131300
340419	RSPO2	HP:0000369	Low-set ears	-	OMIM:618021
340419	RSPO2	HP:0001671	Abnormal cardiac septum morphology	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0000343	Long philtrum	1/7	OMIM:615777
340419	RSPO2	HP:0011001	Increased bone mineral density	-	OMIM:131300
340419	RSPO2	HP:0000347	Micrognathia	11/17	OMIM:618021
340419	RSPO2	HP:0000347	Micrognathia	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0000316	Hypertelorism	1/7	OMIM:618021
340419	RSPO2	HP:0000311	Round face	2/7	OMIM:615777
340419	RSPO2	HP:0002987	Elbow flexion contracture	1/4	OMIM:618022
340419	RSPO2	HP:0001629	Ventricular septal defect	-	OMIM:618021
340419	RSPO2	HP:0002970	Genu varum	-	OMIM:615777
340419	RSPO2	HP:0000308	Microretrognathia	2/7	OMIM:618021
340419	RSPO2	HP:0000303	Mandibular prognathia	-	OMIM:131300
340419	RSPO2	HP:0005304	Hypoplastic pulmonary veins	2/7	OMIM:618021
340419	RSPO2	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
340419	RSPO2	HP:0000482	Microcornea	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0000470	Short neck	1/7	OMIM:615777
340419	RSPO2	HP:0001769	Broad foot	HP:0040283	OMIM:615777
340419	RSPO2	HP:0001763	Pes planus	1/7	OMIM:615777
340419	RSPO2	HP:0001776	Bilateral talipes equinovarus	1/4	OMIM:618022
340419	RSPO2	HP:0006703	Aplasia/Hypoplasia of the lungs	HP:0040281	ORPHA:3301
340419	RSPO2	HP:0006709	Aplasia/Hypoplasia of the nipples	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0000518	Cataract	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0001840	Metatarsus adductus	-	OMIM:615777
340419	RSPO2	HP:0000520	Proptosis	2/4	OMIM:131300
340419	RSPO2	HP:0000520	Proptosis	7/7	OMIM:615777
340419	RSPO2	HP:0000592	Blue sclerae	2/7	OMIM:615777
340419	RSPO2	HP:0000568	Microphthalmia	HP:0040282	ORPHA:3301
340419	RSPO2	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
340419	RSPO2	HP:0012514	Lower limb pain	4/4	OMIM:131300
340533	NEXMIF	HP:0001159	Syndactyly	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	HP:0040282	ORPHA:1942
340533	NEXMIF	HP:0009928	Thick nasal alae	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0007256	Abnormal pyramidal sign	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0007210	Lower limb amyotrophy	1/7	OMIM:300912
340533	NEXMIF	HP:0003763	Bruxism	1/7	OMIM:300912
340533	NEXMIF	HP:0025268	Stuttering	1/7	OMIM:300912
340533	NEXMIF	HP:0001250	Seizure	HP:0040282	ORPHA:85277
340533	NEXMIF	HP:0001252	Hypotonia	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0001252	Hypotonia	2/2	OMIM:300912
340533	NEXMIF	HP:0001251	Ataxia	-	OMIM:300912
340533	NEXMIF	HP:0001251	Ataxia	HP:0040283	ORPHA:1942
340533	NEXMIF	HP:0001249	Intellectual disability	HP:0040281	ORPHA:85277
340533	NEXMIF	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1942
340533	NEXMIF	HP:0001249	Intellectual disability	7/7	OMIM:300912
340533	NEXMIF	HP:0001263	Global developmental delay	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0001263	Global developmental delay	9/9	OMIM:300912
340533	NEXMIF	HP:0002572	Episodic vomiting	1/2	OMIM:300912
340533	NEXMIF	HP:0410263	Brain imaging abnormality	HP:0040283	ORPHA:1942
340533	NEXMIF	HP:0100851	Abnormal emotional state	HP:0040283	ORPHA:1942
340533	NEXMIF	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0002521	Hypsarrhythmia	2/7	OMIM:300912
340533	NEXMIF	HP:0025336	Delayed ability to sit	3/9	OMIM:300912
340533	NEXMIF	HP:0000049	Shawl scrotum	HP:0040282	ORPHA:85277
340533	NEXMIF	HP:0000020	Urinary incontinence	1/1	OMIM:300912
340533	NEXMIF	HP:0008897	Postnatal growth retardation	6/9	OMIM:300912
340533	NEXMIF	HP:0001326	EEG with irregular generalized spike and wave complexes	HP:0040283	ORPHA:1942
340533	NEXMIF	HP:0001344	Absent speech	1/1	OMIM:300912
340533	NEXMIF	HP:0001344	Absent speech	HP:0040281	ORPHA:85277
340533	NEXMIF	HP:0001337	Tremor	HP:0040283	ORPHA:1942
340533	NEXMIF	HP:0001319	Neonatal hypotonia	HP:0040281	ORPHA:85277
340533	NEXMIF	HP:0012169	Self-biting	1/7	OMIM:300912
340533	NEXMIF	HP:0012172	Stereotypical body rocking	2/7	OMIM:300912
340533	NEXMIF	HP:0012171	Stereotypical hand wringing	1/7	OMIM:300912
340533	NEXMIF	HP:0000179	Thick lower lip vermilion	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0000194	Open mouth	2/2	OMIM:300912
340533	NEXMIF	HP:0000154	Wide mouth	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0008936	Axial hypotonia	1/7	OMIM:300912
340533	NEXMIF	HP:0025401	Staring gaze	1/7	OMIM:300912
340533	NEXMIF	HP:0001423	X-linked dominant inheritance	-	OMIM:300912
340533	NEXMIF	HP:0002714	Downturned corners of mouth	1/7	OMIM:300912
340533	NEXMIF	HP:0002020	Gastroesophageal reflux	4/9	OMIM:300912
340533	NEXMIF	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:85277
340533	NEXMIF	HP:0002069	Bilateral tonic-clonic seizure	3/8	OMIM:300912
340533	NEXMIF	HP:0002061	Lower limb spasticity	3/7	OMIM:300912
340533	NEXMIF	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:85277
340533	NEXMIF	HP:0011787	Central hypothyroidism	1/2	OMIM:300912
340533	NEXMIF	HP:0002123	Generalized myoclonic seizure	-	OMIM:300912
340533	NEXMIF	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:1942
340533	NEXMIF	HP:0002120	Cerebral cortical atrophy	HP:0040281	ORPHA:85277
340533	NEXMIF	HP:0002121	Generalized non-motor (absence) seizure	2/8	OMIM:300912
340533	NEXMIF	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:1942
340533	NEXMIF	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:85277
340533	NEXMIF	HP:0002133	Status epilepticus	-	OMIM:300912
340533	NEXMIF	HP:0011927	Short digit	1/1	OMIM:300912
340533	NEXMIF	HP:0010519	Increased fetal movement	1/1	OMIM:300912
340533	NEXMIF	HP:0003593	Infantile onset	8/8	OMIM:300912
340533	NEXMIF	HP:0002273	Tetraparesis	HP:0040281	ORPHA:85277
340533	NEXMIF	HP:0200134	Epileptic encephalopathy	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0100739	Bulimia	1/7	OMIM:300912
340533	NEXMIF	HP:0002292	Frontal balding	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:1942
340533	NEXMIF	HP:0011968	Feeding difficulties	1/2	OMIM:300912
340533	NEXMIF	HP:0002392	EEG with polyspike wave complexes	HP:0040282	ORPHA:1942
340533	NEXMIF	HP:0002317	Unsteady gait	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0002332	Lack of peer relationships	HP:0040282	ORPHA:1942
340533	NEXMIF	HP:0010845	EEG with generalized slow activity	HP:0040283	ORPHA:1942
340533	NEXMIF	HP:0010819	Atonic seizure	2/8	OMIM:300912
340533	NEXMIF	HP:0010819	Atonic seizure	HP:0040282	ORPHA:1942
340533	NEXMIF	HP:0100678	Premature skin wrinkling	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0010804	Tented upper lip vermilion	1/7	OMIM:300912
340533	NEXMIF	HP:0010804	Tented upper lip vermilion	HP:0040281	ORPHA:85277
340533	NEXMIF	HP:0002307	Drooling	1/7	OMIM:300912
340533	NEXMIF	HP:0004209	Clinodactyly of the 5th finger	1/1	OMIM:300912
340533	NEXMIF	HP:0011344	Severe global developmental delay	HP:0040281	ORPHA:85277
340533	NEXMIF	HP:0001999	Abnormal facial shape	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0003011	Abnormality of the musculature	HP:0040282	ORPHA:85277
340533	NEXMIF	HP:0000752	Hyperactivity	5/8	OMIM:300912
340533	NEXMIF	HP:0000752	Hyperactivity	HP:0040282	ORPHA:1942
340533	NEXMIF	HP:0100023	Recurrent hand flapping	1/2	OMIM:300912
340533	NEXMIF	HP:0000739	Anxiety	1/7	OMIM:300912
340533	NEXMIF	HP:0000733	Motor stereotypy	4/8	OMIM:300912
340533	NEXMIF	HP:0000733	Motor stereotypy	HP:0040281	ORPHA:85277
340533	NEXMIF	HP:0000750	Delayed speech and language development	9/9	OMIM:300912
340533	NEXMIF	HP:0000750	Delayed speech and language development	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0000718	Aggressive behavior	3/8	OMIM:300912
340533	NEXMIF	HP:0000729	Autistic behavior	1/2	OMIM:300912
340533	NEXMIF	HP:0000729	Autistic behavior	HP:0040283	ORPHA:1942
340533	NEXMIF	HP:0000729	Autistic behavior	HP:0040281	ORPHA:85277
340533	NEXMIF	HP:0012760	Reduced social responsiveness	1/7	OMIM:300912
340533	NEXMIF	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:1942
340533	NEXMIF	HP:0003196	Short nose	2/7	OMIM:300912
340533	NEXMIF	HP:0003196	Short nose	HP:0040281	ORPHA:85277
340533	NEXMIF	HP:0003189	Long nose	2/2	OMIM:300912
340533	NEXMIF	HP:0000817	Reduced eye contact	3/7	OMIM:300912
340533	NEXMIF	HP:0000954	Single transverse palmar crease	1/1	OMIM:300912
340533	NEXMIF	HP:0000289	Broad philtrum	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0000252	Microcephaly	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0000219	Thin upper lip vermilion	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0000233	Thin vermilion border	2/2	OMIM:300912
340533	NEXMIF	HP:0001508	Failure to thrive	1/2	OMIM:300912
340533	NEXMIF	HP:0011097	Epileptic spasm	-	ORPHA:1942
340533	NEXMIF	HP:0025650	Steroid-dependent nephrotic syndrome	1/2	OMIM:300912
340533	NEXMIF	HP:0000341	Narrow forehead	5/10	OMIM:300912
340533	NEXMIF	HP:0000343	Long philtrum	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0032792	Tonic seizure	1/1	OMIM:300912
340533	NEXMIF	HP:0000311	Round face	3/7	OMIM:300912
340533	NEXMIF	HP:0000322	Short philtrum	1/7	OMIM:300912
340533	NEXMIF	HP:0000322	Short philtrum	HP:0040281	ORPHA:85277
340533	NEXMIF	HP:0000303	Mandibular prognathia	1/7	OMIM:300912
340533	NEXMIF	HP:0011197	EEG with focal spike waves	HP:0040281	ORPHA:1942
340533	NEXMIF	HP:0011182	Interictal epileptiform activity	HP:0040283	ORPHA:1942
340533	NEXMIF	HP:0011171	Simple febrile seizure	HP:0040283	ORPHA:1942
340533	NEXMIF	HP:0011170	Generalized myoclonic-atonic seizure	HP:0040281	ORPHA:1942
340533	NEXMIF	HP:0000400	Macrotia	2/2	OMIM:300912
340533	NEXMIF	HP:0005280	Depressed nasal bridge	1/7	OMIM:300912
340533	NEXMIF	HP:0000486	Strabismus	7/7	OMIM:300912
340533	NEXMIF	HP:0012469	Infantile spasms	1/7	OMIM:300912
340533	NEXMIF	HP:0000494	Downslanted palpebral fissures	2/2	OMIM:300912
340533	NEXMIF	HP:0000463	Anteverted nares	-	OMIM:300912
340533	NEXMIF	HP:0000463	Anteverted nares	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0000431	Wide nasal bridge	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0000430	Underdeveloped nasal alae	2/2	OMIM:300912
340533	NEXMIF	HP:0000426	Prominent nasal bridge	1/1	OMIM:300912
340533	NEXMIF	HP:0005484	Secondary microcephaly	11/17	OMIM:300912
340533	NEXMIF	HP:0011220	Prominent forehead	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0000568	Microphthalmia	HP:0040284	ORPHA:1942
340533	NEXMIF	HP:0000565	Esotropia	1/7	OMIM:300912
340533	NEXMIF	HP:0000565	Esotropia	HP:0040282	ORPHA:85277
340665	CYP26C1	HP:0025167	Fragmented elastic fibers in the dermis	HP:0040282	ORPHA:398189
340665	CYP26C1	HP:0003764	Nevus	HP:0040282	ORPHA:398189
340665	CYP26C1	HP:0001269	Hemiparesis	HP:0040282	ORPHA:398189
340665	CYP26C1	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:398189
340665	CYP26C1	HP:0000007	Autosomal recessive inheritance	-	OMIM:614974
340665	CYP26C1	HP:0000175	Cleft palate	HP:0040282	ORPHA:398189
340665	CYP26C1	HP:0002170	Intracranial hemorrhage	HP:0040282	ORPHA:398189
340665	CYP26C1	HP:0100494	Abnormal mast cell morphology	HP:0040282	ORPHA:398189
340665	CYP26C1	HP:0001028	Hemangioma	HP:0040282	ORPHA:398189
340665	CYP26C1	HP:0100699	Scarring	HP:0040282	ORPHA:398189
340665	CYP26C1	HP:0011336	Bitemporal forceps marks	-	OMIM:614974
340665	CYP26C1	HP:0004426	Abnormal cheek morphology	HP:0040281	ORPHA:398189
340665	CYP26C1	HP:0008066	Abnormal blistering of the skin	HP:0040281	ORPHA:398189
340665	CYP26C1	HP:0000238	Hydrocephalus	HP:0040282	ORPHA:398189
340665	CYP26C1	HP:0000252	Microcephaly	HP:0040282	ORPHA:398189
340665	CYP26C1	HP:0000204	Cleft upper lip	HP:0040282	ORPHA:398189
340665	CYP26C1	HP:0000331	Short chin	HP:0040282	ORPHA:398189
340665	CYP26C1	HP:3000019	Abnormal buccal mucosa morphology	HP:0040281	ORPHA:398189
340665	CYP26C1	HP:0011124	Abnormal epidermal morphology	HP:0040282	ORPHA:398189
340719	NANOS1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
340719	NANOS1	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
340719	NANOS1	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
340719	NANOS1	HP:0000027	Azoospermia	-	OMIM:615413
340719	NANOS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615413
340719	NANOS1	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
340719	NANOS1	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
340719	NANOS1	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
340719	NANOS1	HP:0000789	Infertility	-	OMIM:615413
340719	NANOS1	HP:0012863	Abnormal male germ cell morphology	-	OMIM:615413
340719	NANOS1	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
340990	OTOG	HP:0000007	Autosomal recessive inheritance	-	OMIM:614945
340990	OTOG	HP:0003577	Congenital onset	6/6	OMIM:614945
340990	OTOG	HP:0000750	Delayed speech and language development	3/6	OMIM:614945
340990	OTOG	HP:0000407	Sensorineural hearing impairment	6/6	OMIM:614945
340990	OTOG	HP:0001756	Vestibular hyporeflexia	4/6	OMIM:614945
341208	HEPHL1	HP:0002465	Poor speech	1/1	OMIM:261990
341208	HEPHL1	HP:0003777	Pili torti	1/1	OMIM:261990
341208	HEPHL1	HP:0009886	Trichorrhexis nodosa	1/1	OMIM:261990
341208	HEPHL1	HP:0025267	Snoring	1/1	OMIM:261990
341208	HEPHL1	HP:0001260	Dysarthria	1/1	OMIM:261990
341208	HEPHL1	HP:0001263	Global developmental delay	1/1	OMIM:261990
341208	HEPHL1	HP:0001382	Joint hypermobility	1/1	OMIM:261990
341208	HEPHL1	HP:0001357	Plagiocephaly	1/1	OMIM:261990
341208	HEPHL1	HP:0000007	Autosomal recessive inheritance	-	OMIM:261990
341208	HEPHL1	HP:0004691	2-3 toe syndactyly	1/1	OMIM:261990
341208	HEPHL1	HP:0004689	Short fourth metatarsal	1/1	OMIM:261990
341208	HEPHL1	HP:0011918	Clinodactyly of the 4th toe	1/1	OMIM:261990
341208	HEPHL1	HP:0004704	Short fifth metatarsal	1/1	OMIM:261990
341208	HEPHL1	HP:0100710	Impulsivity	1/1	OMIM:261990
341208	HEPHL1	HP:0002376	Developmental regression	1/1	OMIM:261990
341208	HEPHL1	HP:0032152	Keratosis pilaris	1/1	OMIM:261990
341208	HEPHL1	HP:0001954	Recurrent fever	1/1	OMIM:261990
341208	HEPHL1	HP:0000691	Microdontia	1/1	OMIM:261990
341208	HEPHL1	HP:0000718	Aggressive behavior	1/1	OMIM:261990
341208	HEPHL1	HP:0003102	Increased carrying angle	1/1	OMIM:261990
341208	HEPHL1	HP:0004428	Elfin facies	1/1	OMIM:261990
341208	HEPHL1	HP:0001596	Alopecia	1/1	OMIM:261990
341208	HEPHL1	HP:0012378	Fatigue	1/1	OMIM:261990
341208	HEPHL1	HP:0005180	Tricuspid regurgitation	1/1	OMIM:261990
341208	HEPHL1	HP:0001688	Sinus bradycardia	1/1	OMIM:261990
341208	HEPHL1	HP:0001653	Mitral regurgitation	1/1	OMIM:261990
341208	HEPHL1	HP:0005338	Sparse lateral eyebrow	1/1	OMIM:261990
341208	HEPHL1	HP:0000403	Recurrent otitis media	1/1	OMIM:261990
341208	HEPHL1	HP:0001792	Small nail	1/1	OMIM:261990
341208	HEPHL1	HP:0001808	Fragile nails	1/1	OMIM:261990
341208	HEPHL1	HP:0001864	Clinodactyly of the 5th toe	1/1	OMIM:261990
341208	HEPHL1	HP:0012514	Lower limb pain	1/1	OMIM:261990
341640	FREM2	HP:0001126	Cryptophthalmos	3/4	OMIM:617666
341640	FREM2	HP:0001126	Cryptophthalmos	-	OMIM:123570
341640	FREM2	HP:0001126	Cryptophthalmos	HP:0040281	ORPHA:2052
341640	FREM2	HP:0002475	Myelomeningocele	HP:0040283	ORPHA:2052
341640	FREM2	HP:0010958	Bilateral renal agenesis	2/4	OMIM:617666
341640	FREM2	HP:0008551	Microtia	HP:0040283	ORPHA:2052
341640	FREM2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:2052
341640	FREM2	HP:0002566	Intestinal malrotation	1/4	OMIM:617666
341640	FREM2	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:2052
341640	FREM2	HP:0008749	Laryngeal hypoplasia	HP:0040282	ORPHA:2052
341640	FREM2	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:2052
341640	FREM2	HP:0008678	Renal hypoplasia/aplasia	HP:0040281	ORPHA:2052
341640	FREM2	HP:0000089	Renal hypoplasia	-	OMIM:617666
341640	FREM2	HP:0000068	Urethral atresia	HP:0040283	ORPHA:2052
341640	FREM2	HP:0000062	Ambiguous genitalia	HP:0040282	ORPHA:2052
341640	FREM2	HP:0000062	Ambiguous genitalia	3/3	OMIM:617666
341640	FREM2	HP:0000079	Abnormality of the urinary system	HP:0040281	ORPHA:2052
341640	FREM2	HP:0000046	Small scrotum	HP:0040282	ORPHA:2052
341640	FREM2	HP:0000047	Hypospadias	HP:0040283	ORPHA:2052
341640	FREM2	HP:0001362	Calvarial skull defect	HP:0040283	ORPHA:2052
341640	FREM2	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2052
341640	FREM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617666
341640	FREM2	HP:0000007	Autosomal recessive inheritance	-	OMIM:123570
341640	FREM2	HP:0000160	Narrow mouth	1/4	OMIM:617666
341640	FREM2	HP:0000142	Abnormal vagina morphology	HP:0040282	ORPHA:2052
341640	FREM2	HP:0000148	Vaginal atresia	HP:0040282	ORPHA:2052
341640	FREM2	HP:0000122	Unilateral renal agenesis	1/4	OMIM:617666
341640	FREM2	HP:0002777	Tracheal stenosis	HP:0040283	ORPHA:2052
341640	FREM2	HP:0000104	Renal agenesis	1/4	OMIM:617666
341640	FREM2	HP:0002025	Anal stenosis	HP:0040282	ORPHA:2052
341640	FREM2	HP:0002023	Anal atresia	HP:0040282	ORPHA:2052
341640	FREM2	HP:0002023	Anal atresia	1/4	OMIM:617666
341640	FREM2	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:2052
341640	FREM2	HP:0002084	Encephalocele	HP:0040283	ORPHA:2052
341640	FREM2	HP:0010477	Aplasia of the bladder	3/4	OMIM:617666
341640	FREM2	HP:0010458	Female pseudohermaphroditism	HP:0040282	ORPHA:2052
341640	FREM2	HP:0002101	Abnormal lung lobation	HP:0040283	ORPHA:2052
341640	FREM2	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:2052
341640	FREM2	HP:0003577	Congenital onset	4/4	OMIM:617666
341640	FREM2	HP:0010720	Abnormal hair pattern	HP:0040283	ORPHA:2052
341640	FREM2	HP:0025023	Rectal atresia	1/4	OMIM:617666
341640	FREM2	HP:0009826	Limb undergrowth	HP:0040284	ORPHA:2052
341640	FREM2	HP:0009755	Ankyloblepharon	-	OMIM:123570
341640	FREM2	HP:0000618	Blindness	HP:0040281	ORPHA:2052
341640	FREM2	HP:0000678	Dental crowding	HP:0040282	ORPHA:2052
341640	FREM2	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:2052
341640	FREM2	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2052
341640	FREM2	HP:0004397	Ectopic anus	HP:0040283	ORPHA:2052
341640	FREM2	HP:0000772	Abnormal rib morphology	HP:0040284	ORPHA:2052
341640	FREM2	HP:0012732	Anorectal anomaly	HP:0040282	ORPHA:2052
341640	FREM2	HP:0012725	Cutaneous syndactyly	HP:0040281	ORPHA:2052
341640	FREM2	HP:0012725	Cutaneous syndactyly	3/4	OMIM:617666
341640	FREM2	HP:0000778	Hypoplasia of the thymus	1/4	OMIM:617666
341640	FREM2	HP:0003191	Cleft ala nasi	HP:0040283	ORPHA:2052
341640	FREM2	HP:0003183	Wide pubic symphysis	HP:0040284	ORPHA:2052
341640	FREM2	HP:0000813	Bicornuate uterus	HP:0040283	ORPHA:2052
341640	FREM2	HP:0010297	Bifid tongue	HP:0040282	ORPHA:2052
341640	FREM2	HP:0003270	Abdominal distention	-	OMIM:617666
341640	FREM2	HP:0010306	Short thorax	1/4	OMIM:617666
341640	FREM2	HP:0000294	Low anterior hairline	1/4	OMIM:617666
341640	FREM2	HP:0005105	Abnormal nasal morphology	HP:0040282	ORPHA:2052
341640	FREM2	HP:0000252	Microcephaly	HP:0040283	ORPHA:2052
341640	FREM2	HP:0002878	Respiratory failure	1/4	OMIM:617666
341640	FREM2	HP:0000218	High palate	HP:0040283	ORPHA:2052
341640	FREM2	HP:0001562	Oligohydramnios	2/4	OMIM:617666
341640	FREM2	HP:0001522	Death in infancy	HP:0040283	ORPHA:2052
341640	FREM2	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:2052
341640	FREM2	HP:0001539	Omphalocele	HP:0040283	ORPHA:2052
341640	FREM2	HP:0000202	Orofacial cleft	HP:0040283	ORPHA:2052
341640	FREM2	HP:0000204	Cleft upper lip	HP:0040283	ORPHA:2052
341640	FREM2	HP:0000377	Abnormal pinna morphology	HP:0040282	ORPHA:2052
341640	FREM2	HP:0001607	Subglottic stenosis	HP:0040283	ORPHA:2052
341640	FREM2	HP:0001602	Laryngeal stenosis	HP:0040282	ORPHA:2052
341640	FREM2	HP:0000356	Abnormality of the outer ear	HP:0040282	ORPHA:2052
341640	FREM2	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2052
341640	FREM2	HP:0000370	Abnormality of the middle ear	HP:0040282	ORPHA:2052
341640	FREM2	HP:0000369	Low-set ears	1/4	OMIM:617666
341640	FREM2	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2052
341640	FREM2	HP:0012300	Ureteral agenesis	1/4	OMIM:617666
341640	FREM2	HP:0006610	Wide intermamillary distance	HP:0040283	ORPHA:2052
341640	FREM2	HP:0007925	Lacrimal duct aplasia	HP:0040281	ORPHA:2052
341640	FREM2	HP:0005349	Hypoplasia of the epiglottis	1/4	OMIM:617666
341640	FREM2	HP:0007993	Malformed lacrimal duct	HP:0040281	ORPHA:2052
341640	FREM2	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:2052
341640	FREM2	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:2052
341640	FREM2	HP:0000470	Short neck	1/4	OMIM:617666
341640	FREM2	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:2052
341640	FREM2	HP:0000445	Wide nose	1/4	OMIM:617666
341640	FREM2	HP:0000413	Atresia of the external auditory canal	HP:0040283	ORPHA:2052
341640	FREM2	HP:0000413	Atresia of the external auditory canal	1/4	OMIM:617666
341640	FREM2	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:2052
341640	FREM2	HP:0000430	Underdeveloped nasal alae	HP:0040283	ORPHA:2052
341640	FREM2	HP:0000430	Underdeveloped nasal alae	1/4	OMIM:617666
341640	FREM2	HP:0004112	Midline nasal groove	HP:0040283	ORPHA:2052
341640	FREM2	HP:0000528	Anophthalmia	HP:0040282	ORPHA:2052
341640	FREM2	HP:0000501	Glaucoma	-	OMIM:123570
341640	FREM2	HP:0000568	Microphthalmia	HP:0040282	ORPHA:2052
341640	FREM2	HP:0000568	Microphthalmia	1/4	OMIM:617666
341640	FREM2	HP:0000568	Microphthalmia	-	OMIM:123570
342035	GLDN	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:994
342035	GLDN	HP:0001262	Excessive daytime somnolence	HP:0040281	ORPHA:994
342035	GLDN	HP:0001371	Flexion contracture	1/6	OMIM:617194
342035	GLDN	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:994
342035	GLDN	HP:0000007	Autosomal recessive inheritance	-	OMIM:617194
342035	GLDN	HP:0001305	Dandy-Walker malformation	HP:0040283	ORPHA:994
342035	GLDN	HP:0002650	Scoliosis	HP:0040282	ORPHA:994
342035	GLDN	HP:0000175	Cleft palate	HP:0040282	ORPHA:994
342035	GLDN	HP:0002089	Pulmonary hypoplasia	HP:0040281	ORPHA:994
342035	GLDN	HP:0002089	Pulmonary hypoplasia	5/6	OMIM:617194
342035	GLDN	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:994
342035	GLDN	HP:0010489	Absent palmar crease	HP:0040281	ORPHA:994
342035	GLDN	HP:0100490	Camptodactyly of finger	HP:0040281	ORPHA:994
342035	GLDN	HP:0003577	Congenital onset	1/6	OMIM:617194
342035	GLDN	HP:0001059	Pterygium	HP:0040283	ORPHA:994
342035	GLDN	HP:0002375	Hypokinesia	HP:0040281	ORPHA:994
342035	GLDN	HP:0002304	Akinesia	HP:0040281	ORPHA:994
342035	GLDN	HP:0001989	Fetal akinesia sequence	HP:0040281	ORPHA:994
342035	GLDN	HP:0034197	Third trimester onset	5/6	OMIM:617194
342035	GLDN	HP:0005684	Distal arthrogryposis	1/6	OMIM:617194
342035	GLDN	HP:0012785	Flexion contracture of finger	2/6	OMIM:617194
342035	GLDN	HP:0000278	Retrognathia	1/6	OMIM:617194
342035	GLDN	HP:0002828	Multiple joint contractures	HP:0040281	ORPHA:994
342035	GLDN	HP:0002804	Arthrogryposis multiplex congenita	HP:0040281	ORPHA:994
342035	GLDN	HP:0001561	Polyhydramnios	HP:0040282	ORPHA:994
342035	GLDN	HP:0001561	Polyhydramnios	6/6	OMIM:617194
342035	GLDN	HP:0001558	Decreased fetal movement	6/6	OMIM:617194
342035	GLDN	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:994
342035	GLDN	HP:0001511	Intrauterine growth retardation	1/6	OMIM:617194
342035	GLDN	HP:0012385	Camptodactyly	1/6	OMIM:617194
342035	GLDN	HP:0005245	Intestinal hypoplasia	HP:0040283	ORPHA:994
342035	GLDN	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:994
342035	GLDN	HP:0000347	Micrognathia	HP:0040281	ORPHA:994
342035	GLDN	HP:0000316	Hypertelorism	HP:0040282	ORPHA:994
342035	GLDN	HP:0002987	Elbow flexion contracture	1/6	OMIM:617194
342035	GLDN	HP:0000308	Microretrognathia	1/6	OMIM:617194
342035	GLDN	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:994
342035	GLDN	HP:0000476	Cystic hygroma	HP:0040282	ORPHA:994
342035	GLDN	HP:0001776	Bilateral talipes equinovarus	1/6	OMIM:617194
342184	FMN1	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
342184	FMN1	HP:0001293	Cranial nerve compression	-	OMIM:131300
342184	FMN1	HP:0001252	Hypotonia	2/7	OMIM:615777
342184	FMN1	HP:0001249	Intellectual disability	5/7	OMIM:615777
342184	FMN1	HP:0001263	Global developmental delay	-	OMIM:615777
342184	FMN1	HP:0002515	Waddling gait	54/102	OMIM:131300
342184	FMN1	HP:0001382	Joint hypermobility	-	OMIM:615777
342184	FMN1	HP:0002694	Sclerosis of skull base	-	OMIM:131300
342184	FMN1	HP:0008897	Postnatal growth retardation	-	OMIM:615777
342184	FMN1	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
342184	FMN1	HP:0001324	Muscle weakness	40/96	OMIM:131300
342184	FMN1	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
342184	FMN1	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
342184	FMN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
342184	FMN1	HP:0002650	Scoliosis	12/14	OMIM:131300
342184	FMN1	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
342184	FMN1	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
342184	FMN1	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
342184	FMN1	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
342184	FMN1	HP:0000175	Cleft palate	2/7	OMIM:615777
342184	FMN1	HP:0003388	Easy fatigability	36/76	OMIM:131300
342184	FMN1	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
342184	FMN1	HP:0003510	Severe short stature	7/7	OMIM:615777
342184	FMN1	HP:0002315	Headache	-	OMIM:131300
342184	FMN1	HP:0004976	Knee dislocation	6/7	OMIM:615777
342184	FMN1	HP:0009803	Short phalanx of finger	-	OMIM:615777
342184	FMN1	HP:0009763	Limb pain	63/92	OMIM:131300
342184	FMN1	HP:0003621	Juvenile onset	-	OMIM:131300
342184	FMN1	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
342184	FMN1	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
342184	FMN1	HP:6001056	Out-toeing	-	OMIM:131300
342184	FMN1	HP:0000651	Diplopia	-	OMIM:131300
342184	FMN1	HP:0001956	Truncal obesity	2/7	OMIM:615777
342184	FMN1	HP:0001903	Anemia	HP:0040283	OMIM:131300
342184	FMN1	HP:0010049	Short metacarpal	-	OMIM:615777
342184	FMN1	HP:0000678	Dental crowding	-	OMIM:615777
342184	FMN1	HP:0000670	Carious teeth	-	OMIM:131300
342184	FMN1	HP:0011304	Broad thumb	2/7	OMIM:615777
342184	FMN1	HP:0000668	Hypodontia	-	OMIM:615777
342184	FMN1	HP:0000664	Synophrys	-	OMIM:615777
342184	FMN1	HP:0004396	Poor appetite	-	OMIM:131300
342184	FMN1	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
342184	FMN1	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
342184	FMN1	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
342184	FMN1	HP:0003026	Short long bone	7/7	OMIM:615777
342184	FMN1	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
342184	FMN1	HP:0000767	Pectus excavatum	2/7	OMIM:615777
342184	FMN1	HP:0000768	Pectus carinatum	1/7	OMIM:615777
342184	FMN1	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
342184	FMN1	HP:0000750	Delayed speech and language development	-	OMIM:615777
342184	FMN1	HP:0011461	Fetal onset	7/7	OMIM:615777
342184	FMN1	HP:0000774	Narrow chest	2/7	OMIM:615777
342184	FMN1	HP:0000926	Platyspondyly	1/7	OMIM:615777
342184	FMN1	HP:0003180	Flat acetabular roof	-	OMIM:615777
342184	FMN1	HP:0004482	Relative macrocephaly	-	OMIM:615777
342184	FMN1	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
342184	FMN1	HP:0000823	Delayed puberty	-	OMIM:131300
342184	FMN1	HP:0000894	Short clavicles	-	OMIM:615777
342184	FMN1	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
342184	FMN1	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
342184	FMN1	HP:0000286	Epicanthus	1/7	OMIM:615777
342184	FMN1	HP:0000280	Coarse facial features	2/7	OMIM:615777
342184	FMN1	HP:0002827	Hip dislocation	3/7	OMIM:615777
342184	FMN1	HP:0000252	Microcephaly	-	OMIM:615777
342184	FMN1	HP:0002857	Genu valgum	-	OMIM:131300
342184	FMN1	HP:0001533	Slender build	-	OMIM:131300
342184	FMN1	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
342184	FMN1	HP:0007807	Optic nerve compression	-	OMIM:131300
342184	FMN1	HP:0012368	Flat face	7/7	OMIM:615777
342184	FMN1	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
342184	FMN1	HP:0000365	Hearing impairment	10/67	OMIM:131300
342184	FMN1	HP:0000343	Long philtrum	1/7	OMIM:615777
342184	FMN1	HP:0011001	Increased bone mineral density	-	OMIM:131300
342184	FMN1	HP:0000311	Round face	2/7	OMIM:615777
342184	FMN1	HP:0002970	Genu varum	-	OMIM:615777
342184	FMN1	HP:0000303	Mandibular prognathia	-	OMIM:131300
342184	FMN1	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
342184	FMN1	HP:0000470	Short neck	1/7	OMIM:615777
342184	FMN1	HP:0001769	Broad foot	HP:0040283	OMIM:615777
342184	FMN1	HP:0001763	Pes planus	1/7	OMIM:615777
342184	FMN1	HP:0001840	Metatarsus adductus	-	OMIM:615777
342184	FMN1	HP:0000520	Proptosis	2/4	OMIM:131300
342184	FMN1	HP:0000520	Proptosis	7/7	OMIM:615777
342184	FMN1	HP:0000592	Blue sclerae	2/7	OMIM:615777
342184	FMN1	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
342184	FMN1	HP:0012514	Lower limb pain	4/4	OMIM:131300
342618	SLFN14	HP:0000006	Autosomal dominant inheritance	-	OMIM:616913
342618	SLFN14	HP:0000132	Menorrhagia	-	OMIM:616913
342618	SLFN14	HP:0000978	Bruising susceptibility	-	OMIM:616913
342618	SLFN14	HP:0000421	Epistaxis	-	OMIM:616913
342618	SLFN14	HP:0001873	Thrombocytopenia	8/8	OMIM:616913
343035	RD3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
343035	RD3	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
343035	RD3	HP:0001270	Motor delay	HP:0040283	ORPHA:65
343035	RD3	HP:0001250	Seizure	HP:0040282	ORPHA:65
343035	RD3	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
343035	RD3	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
343035	RD3	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
343035	RD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
343035	RD3	HP:0000007	Autosomal recessive inheritance	-	OMIM:610612
343035	RD3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
343035	RD3	HP:0001483	Eye poking	HP:0040282	ORPHA:65
343035	RD3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
343035	RD3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
343035	RD3	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
343035	RD3	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
343035	RD3	HP:0003621	Juvenile onset	8/19	OMIM:180100
343035	RD3	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
343035	RD3	HP:0000639	Nystagmus	-	OMIM:610612
343035	RD3	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
343035	RD3	HP:0000613	Photophobia	HP:0040282	ORPHA:65
343035	RD3	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
343035	RD3	HP:0000662	Nyctalopia	26/28	OMIM:180100
343035	RD3	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
343035	RD3	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
343035	RD3	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
343035	RD3	HP:0011463	Childhood onset	3/19	OMIM:180100
343035	RD3	HP:0011462	Young adult onset	8/19	OMIM:180100
343035	RD3	HP:0008002	Abnormality of macular pigmentation	-	OMIM:610612
343035	RD3	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
343035	RD3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
343035	RD3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
343035	RD3	HP:0007875	Congenital blindness	-	OMIM:610612
343035	RD3	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
343035	RD3	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
343035	RD3	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
343035	RD3	HP:0000518	Cataract	HP:0040282	ORPHA:65
343035	RD3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
343035	RD3	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
343035	RD3	HP:0000575	Scotoma	5/18	OMIM:180100
343035	RD3	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
343035	RD3	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
343035	RD3	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
343035	RD3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
343035	RD3	HP:0000545	Myopia	-	OMIM:180100
343171	OR2W3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
343171	OR2W3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
343171	OR2W3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
343171	OR2W3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
343171	OR2W3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
343171	OR2W3	HP:0003621	Juvenile onset	8/19	OMIM:180100
343171	OR2W3	HP:0000662	Nyctalopia	26/28	OMIM:180100
343171	OR2W3	HP:0011463	Childhood onset	3/19	OMIM:180100
343171	OR2W3	HP:0011462	Young adult onset	8/19	OMIM:180100
343171	OR2W3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
343171	OR2W3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
343171	OR2W3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
343171	OR2W3	HP:0000575	Scotoma	5/18	OMIM:180100
343171	OR2W3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
343171	OR2W3	HP:0000545	Myopia	-	OMIM:180100
343450	KCNT2	HP:0007270	Atypical absence seizure	-	OMIM:617771
343450	KCNT2	HP:0001250	Seizure	1/1	OMIM:617771
343450	KCNT2	HP:0001252	Hypotonia	1/1	OMIM:617771
343450	KCNT2	HP:0001263	Global developmental delay	-	OMIM:617771
343450	KCNT2	HP:0002521	Hypsarrhythmia	1/1	OMIM:617771
343450	KCNT2	HP:0033725	Thin corpus callosum	1/1	OMIM:617771
343450	KCNT2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617771
343450	KCNT2	HP:0025401	Staring gaze	1/1	OMIM:617771
343450	KCNT2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:617771
343450	KCNT2	HP:0002123	Generalized myoclonic seizure	-	OMIM:617771
343450	KCNT2	HP:0003593	Infantile onset	-	OMIM:617771
343450	KCNT2	HP:0200134	Epileptic encephalopathy	1/1	OMIM:617771
343450	KCNT2	HP:0002376	Developmental regression	-	OMIM:617771
343450	KCNT2	HP:0003623	Neonatal onset	1/1	OMIM:617771
343450	KCNT2	HP:0012736	Profound global developmental delay	1/1	OMIM:617771
343450	KCNT2	HP:0034295	Reduced cerebral white matter volume	1/1	OMIM:617771
343450	KCNT2	HP:0011097	Epileptic spasm	1/1	OMIM:617771
343450	KCNT2	HP:0032792	Tonic seizure	1/1	OMIM:617771
343637	RSPO4	HP:0000007	Autosomal recessive inheritance	-	OMIM:206800
343637	RSPO4	HP:0001507	Growth abnormality	0/4	OMIM:206800
343637	RSPO4	HP:0001798	Anonychia	4/4	OMIM:206800
343641	TGM6	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:276193
343641	TGM6	HP:0001272	Cerebellar atrophy	4/4	OMIM:613908
343641	TGM6	HP:0001288	Gait disturbance	HP:0040282	ORPHA:276193
343641	TGM6	HP:0001288	Gait disturbance	8/11	OMIM:613908
343641	TGM6	HP:0001251	Ataxia	11/11	OMIM:613908
343641	TGM6	HP:0001260	Dysarthria	HP:0040282	ORPHA:276193
343641	TGM6	HP:0001260	Dysarthria	10/11	OMIM:613908
343641	TGM6	HP:0002505	Loss of ambulation	8/11	OMIM:613908
343641	TGM6	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:276193
343641	TGM6	HP:0001347	Hyperreflexia	10/11	OMIM:613908
343641	TGM6	HP:0000006	Autosomal dominant inheritance	-	OMIM:613908
343641	TGM6	HP:0001310	Dysmetria	HP:0040282	ORPHA:276193
343641	TGM6	HP:0001310	Dysmetria	11/11	OMIM:613908
343641	TGM6	HP:0002080	Intention tremor	4/11	OMIM:613908
343641	TGM6	HP:0002080	Intention tremor	HP:0040282	ORPHA:276193
343641	TGM6	HP:0002066	Gait ataxia	HP:0040282	ORPHA:276193
343641	TGM6	HP:0002073	Progressive cerebellar ataxia	HP:0040281	ORPHA:276193
343641	TGM6	HP:0002070	Limb ataxia	HP:0040282	ORPHA:276193
343641	TGM6	HP:0003487	Babinski sign	HP:0040282	ORPHA:276193
343641	TGM6	HP:0003487	Babinski sign	5/11	OMIM:613908
343641	TGM6	HP:0003596	Middle age onset	11/11	OMIM:613908
343641	TGM6	HP:0007024	Pseudobulbar paralysis	11/11	OMIM:613908
343641	TGM6	HP:0007024	Pseudobulbar paralysis	HP:0040283	ORPHA:276193
343641	TGM6	HP:0002342	Intellectual disability, moderate	HP:0040283	ORPHA:276193
343641	TGM6	HP:0003677	Slowly progressive	-	OMIM:613908
343641	TGM6	HP:0010831	Impaired proprioception	3/11	OMIM:613908
343641	TGM6	HP:0009830	Peripheral neuropathy	-	ORPHA:276193
343641	TGM6	HP:0002311	Incoordination	-	OMIM:613908
343641	TGM6	HP:0000639	Nystagmus	-	ORPHA:276193
343641	TGM6	HP:0000641	Dysmetric saccades	HP:0040283	ORPHA:276193
343641	TGM6	HP:0000602	Ophthalmoplegia	-	ORPHA:276193
343641	TGM6	HP:0000473	Torticollis	4/11	OMIM:613908
343641	TGM6	HP:0000473	Torticollis	HP:0040283	ORPHA:276193
343641	TGM6	HP:0000467	Neck muscle weakness	-	OMIM:613908
343641	TGM6	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:276193
343641	TGM6	HP:0000514	Slow saccadic eye movements	2/11	OMIM:613908
344018	FIGLA	HP:0001166	Arachnodactyly	HP:0040284	ORPHA:243
344018	FIGLA	HP:0009888	Abnormality of secondary sexual hair	HP:0040281	ORPHA:243
344018	FIGLA	HP:0001251	Ataxia	HP:0040284	ORPHA:243
344018	FIGLA	HP:0008684	Aplasia/hypoplasia of the uterus	HP:0040282	ORPHA:243
344018	FIGLA	HP:0000062	Ambiguous genitalia	-	ORPHA:243
344018	FIGLA	HP:0000013	Hypoplasia of the uterus	2/4	OMIM:612310
344018	FIGLA	HP:0000144	Decreased fertility	HP:0040281	ORPHA:243
344018	FIGLA	HP:0001470	Sex-limited expression	-	OMIM:612310
344018	FIGLA	HP:0000133	Gonadal dysgenesis	HP:0040280	ORPHA:243
344018	FIGLA	HP:0002750	Delayed skeletal maturation	HP:0040282	ORPHA:243
344018	FIGLA	HP:0010464	Streak ovary	HP:0040282	ORPHA:243
344018	FIGLA	HP:0010464	Streak ovary	2/4	OMIM:612310
344018	FIGLA	HP:0008232	Elevated circulating follicle stimulating hormone level	-	OMIM:612310
344018	FIGLA	HP:0008222	Female infertility	4/4	OMIM:612310
344018	FIGLA	HP:0008209	Premature ovarian insufficiency	HP:0040280	ORPHA:243
344018	FIGLA	HP:0008209	Premature ovarian insufficiency	-	OMIM:612310
344018	FIGLA	HP:0008214	Decreased serum estradiol	HP:0040281	ORPHA:243
344018	FIGLA	HP:0002225	Sparse pubic hair	HP:0040282	ORPHA:243
344018	FIGLA	HP:0002206	Pulmonary fibrosis	HP:0040284	ORPHA:243
344018	FIGLA	HP:0011969	Elevated circulating luteinizing hormone level	-	OMIM:612310
344018	FIGLA	HP:0001939	Abnormality of metabolism/homeostasis	HP:0040283	ORPHA:243
344018	FIGLA	HP:0004322	Short stature	HP:0040283	ORPHA:243
344018	FIGLA	HP:0005625	Osteoporosis of vertebrae	HP:0040282	ORPHA:243
344018	FIGLA	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:243
344018	FIGLA	HP:0000786	Primary amenorrhea	-	OMIM:612310
344018	FIGLA	HP:0000786	Primary amenorrhea	HP:0040281	ORPHA:243
344018	FIGLA	HP:0000869	Secondary amenorrhea	HP:0040283	ORPHA:243
344018	FIGLA	HP:0000869	Secondary amenorrhea	-	OMIM:612310
344018	FIGLA	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:243
344018	FIGLA	HP:0000823	Delayed puberty	HP:0040281	ORPHA:243
344018	FIGLA	HP:0010311	Aplasia/Hypoplasia of the breasts	HP:0040282	ORPHA:243
344018	FIGLA	HP:0000938	Osteopenia	HP:0040282	ORPHA:243
344018	FIGLA	HP:0000252	Microcephaly	HP:0040284	ORPHA:243
344018	FIGLA	HP:0000365	Hearing impairment	HP:0040283	ORPHA:243
344167	FOXI3	HP:0020223	Dermal sinus tract	1/10	OMIM:620444
344167	FOXI3	HP:0008569	Microtia, second degree	1/10	OMIM:620444
344167	FOXI3	HP:0008551	Microtia	10/10	OMIM:620444
344167	FOXI3	HP:0000006	Autosomal dominant inheritance	-	OMIM:620444
344167	FOXI3	HP:0000193	Bifid uvula	1/10	OMIM:620444
344167	FOXI3	HP:0010609	Skin tags	1/10	OMIM:620444
344167	FOXI3	HP:0003577	Congenital onset	10/10	OMIM:620444
344167	FOXI3	HP:0000347	Micrognathia	3/10	OMIM:620444
344167	FOXI3	HP:5201016	Submucous cleft palate	1/10	OMIM:620444
344167	FOXI3	HP:0011267	Microtia, third degree	8/10	OMIM:620444
344167	FOXI3	HP:0011266	Microtia, first degree	1/10	OMIM:620444
344658	SAMD7	HP:0025159	Hypoautofluorescent retinal lesion	7/8	OMIM:620762
344658	SAMD7	HP:0007401	Macular atrophy	5/8	OMIM:620762
344658	SAMD7	HP:0000007	Autosomal recessive inheritance	-	OMIM:620762
344658	SAMD7	HP:0007663	Reduced visual acuity	7/8	OMIM:620762
344658	SAMD7	HP:0003596	Middle age onset	3/8	OMIM:620762
344658	SAMD7	HP:0003621	Juvenile onset	1/8	OMIM:620762
344658	SAMD7	HP:0000603	Central scotoma	1/8	OMIM:620762
344658	SAMD7	HP:0011462	Young adult onset	4/8	OMIM:620762
344658	SAMD7	HP:0007722	Retinal pigment epithelial atrophy	1/8	OMIM:620762
344658	SAMD7	HP:0007754	Macular dystrophy	8/8	OMIM:620762
344658	SAMD7	HP:0012511	Temporal optic disc pallor	2/8	OMIM:620762
345193	LRIT3	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
345193	LRIT3	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
345193	LRIT3	HP:0000007	Autosomal recessive inheritance	-	OMIM:615058
345193	LRIT3	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
345193	LRIT3	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
345193	LRIT3	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
345193	LRIT3	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:215
345193	LRIT3	HP:0007663	Reduced visual acuity	2/2	OMIM:615058
345193	LRIT3	HP:0007642	Congenital stationary night blindness	2/2	OMIM:615058
345193	LRIT3	HP:0011958	Retinal perforation	1/2	OMIM:615058
345193	LRIT3	HP:0003621	Juvenile onset	8/19	OMIM:180100
345193	LRIT3	HP:0000639	Nystagmus	HP:0040282	ORPHA:215
345193	LRIT3	HP:0030469	Abnormal dark-adapted electroretinogram	HP:0040281	ORPHA:215
345193	LRIT3	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	HP:0040283	ORPHA:215
345193	LRIT3	HP:0000662	Nyctalopia	26/28	OMIM:180100
345193	LRIT3	HP:0000662	Nyctalopia	HP:0040281	ORPHA:215
345193	LRIT3	HP:0000662	Nyctalopia	2/2	OMIM:615058
345193	LRIT3	HP:0030639	Congenital stationary night blindness with abnormal fundus	HP:0040282	ORPHA:215
345193	LRIT3	HP:0030638	Congenital stationary night blindness with normal fundus	HP:0040282	ORPHA:215
345193	LRIT3	HP:0011463	Childhood onset	3/19	OMIM:180100
345193	LRIT3	HP:0011463	Childhood onset	2/2	OMIM:615058
345193	LRIT3	HP:0011462	Young adult onset	8/19	OMIM:180100
345193	LRIT3	HP:0007703	Abnormality of retinal pigmentation	HP:0040284	ORPHA:215
345193	LRIT3	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
345193	LRIT3	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
345193	LRIT3	HP:0011003	High myopia	2/2	OMIM:615058
345193	LRIT3	HP:0030329	Retinal thinning	HP:0040284	ORPHA:215
345193	LRIT3	HP:0007984	Electronegative electroretinogram	1/2	OMIM:615058
345193	LRIT3	HP:0007984	Electronegative electroretinogram	HP:0040283	ORPHA:215
345193	LRIT3	HP:0000486	Strabismus	1/2	OMIM:615058
345193	LRIT3	HP:0000486	Strabismus	HP:0040282	ORPHA:215
345193	LRIT3	HP:0031705	Compensatory head posture	HP:0040283	ORPHA:215
345193	LRIT3	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
345193	LRIT3	HP:0000575	Scotoma	5/18	OMIM:180100
345193	LRIT3	HP:0000540	Hypermetropia	HP:0040283	ORPHA:215
345193	LRIT3	HP:0000551	Color vision defect	HP:0040284	ORPHA:215
345193	LRIT3	HP:0000543	Optic disc pallor	1/1	OMIM:180100
345193	LRIT3	HP:0000545	Myopia	-	OMIM:180100
345193	LRIT3	HP:0000545	Myopia	HP:0040281	ORPHA:215
345611	IRGM	HP:0002037	Inflammation of the large intestine	-	OMIM:612278
345643	MCIDAS	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
345643	MCIDAS	HP:0001217	Clubbing	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0032341	Reduced forced vital capacity	-	OMIM:618695
345643	MCIDAS	HP:0000007	Autosomal recessive inheritance	-	OMIM:618695
345643	MCIDAS	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
345643	MCIDAS	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0031245	Productive cough	HP:0040282	ORPHA:244
345643	MCIDAS	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0002093	Respiratory insufficiency	2/9	OMIM:618695
345643	MCIDAS	HP:0002090	Pneumonia	9/9	OMIM:618695
345643	MCIDAS	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
345643	MCIDAS	HP:0100582	Nasal polyposis	-	OMIM:618695
345643	MCIDAS	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
345643	MCIDAS	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0002110	Bronchiectasis	9/9	OMIM:618695
345643	MCIDAS	HP:0008222	Female infertility	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
345643	MCIDAS	HP:0002257	Chronic rhinitis	-	OMIM:618695
345643	MCIDAS	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
345643	MCIDAS	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
345643	MCIDAS	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
345643	MCIDAS	HP:0003623	Neonatal onset	-	OMIM:618695
345643	MCIDAS	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
345643	MCIDAS	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
345643	MCIDAS	HP:0030828	Wheezing	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0003251	Male infertility	HP:0040282	ORPHA:244
345643	MCIDAS	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0033036	Decreased nasal nitric oxide	7/7	OMIM:618695
345643	MCIDAS	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
345643	MCIDAS	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
345643	MCIDAS	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
345643	MCIDAS	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
345643	MCIDAS	HP:0006510	Chronic pulmonary obstruction	-	OMIM:618695
345643	MCIDAS	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
345643	MCIDAS	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
345643	MCIDAS	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
345643	MCIDAS	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
345643	MCIDAS	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
345643	MCIDAS	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
345643	MCIDAS	HP:0011108	Recurrent sinusitis	11/13	OMIM:618695
345643	MCIDAS	HP:0001746	Asplenia	HP:0040284	ORPHA:244
345643	MCIDAS	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
345643	MCIDAS	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
345643	MCIDAS	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
345643	MCIDAS	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
345643	MCIDAS	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
345895	RSPH4A	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
345895	RSPH4A	HP:0001217	Clubbing	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0000007	Autosomal recessive inheritance	-	OMIM:612649
345895	RSPH4A	HP:0002643	Neonatal respiratory distress	4/12	OMIM:612649
345895	RSPH4A	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
345895	RSPH4A	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0031245	Productive cough	HP:0040282	ORPHA:244
345895	RSPH4A	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
345895	RSPH4A	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
345895	RSPH4A	HP:0002110	Bronchiectasis	9/12	OMIM:612649
345895	RSPH4A	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0008222	Female infertility	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0002257	Chronic rhinitis	10/12	OMIM:612649
345895	RSPH4A	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
345895	RSPH4A	HP:0003546	Exercise intolerance	-	OMIM:612649
345895	RSPH4A	HP:0002205	Recurrent respiratory infections	-	OMIM:612649
345895	RSPH4A	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
345895	RSPH4A	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
345895	RSPH4A	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
345895	RSPH4A	HP:0004322	Short stature	-	OMIM:612649
345895	RSPH4A	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0004469	Chronic bronchitis	3/12	OMIM:612649
345895	RSPH4A	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
345895	RSPH4A	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
345895	RSPH4A	HP:0030828	Wheezing	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0003251	Male infertility	HP:0040282	ORPHA:244
345895	RSPH4A	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0033036	Decreased nasal nitric oxide	4/5	OMIM:612649
345895	RSPH4A	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
345895	RSPH4A	HP:0012265	Ciliary dyskinesia	-	OMIM:612649
345895	RSPH4A	HP:0012260	Abnormal central microtubular pair morphology of respiratory motile cilia	10/10	OMIM:612649
345895	RSPH4A	HP:0012263	Immotile cilia	1/1	OMIM:612649
345895	RSPH4A	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
345895	RSPH4A	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
345895	RSPH4A	HP:0012207	Reduced sperm motility	1/1	OMIM:612649
345895	RSPH4A	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
345895	RSPH4A	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
345895	RSPH4A	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
345895	RSPH4A	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
345895	RSPH4A	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
345895	RSPH4A	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
345895	RSPH4A	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
345895	RSPH4A	HP:0011108	Recurrent sinusitis	10/12	OMIM:612649
345895	RSPH4A	HP:0001746	Asplenia	HP:0040284	ORPHA:244
345895	RSPH4A	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
345895	RSPH4A	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
345895	RSPH4A	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
345895	RSPH4A	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
345895	RSPH4A	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
346007	EYS	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
346007	EYS	HP:0001133	Constriction of peripheral visual field	-	OMIM:602772
346007	EYS	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
346007	EYS	HP:0000007	Autosomal recessive inheritance	-	OMIM:602772
346007	EYS	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
346007	EYS	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
346007	EYS	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
346007	EYS	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
346007	EYS	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
346007	EYS	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
346007	EYS	HP:0003621	Juvenile onset	8/19	OMIM:180100
346007	EYS	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
346007	EYS	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
346007	EYS	HP:0000618	Blindness	HP:0040281	ORPHA:791
346007	EYS	HP:0000613	Photophobia	HP:0040281	ORPHA:791
346007	EYS	HP:0000613	Photophobia	-	OMIM:602772
346007	EYS	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
346007	EYS	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
346007	EYS	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
346007	EYS	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
346007	EYS	HP:0000662	Nyctalopia	-	OMIM:602772
346007	EYS	HP:0000662	Nyctalopia	26/28	OMIM:180100
346007	EYS	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
346007	EYS	HP:0011463	Childhood onset	3/19	OMIM:180100
346007	EYS	HP:0011462	Young adult onset	8/19	OMIM:180100
346007	EYS	HP:0030786	Photopsia	HP:0040283	ORPHA:791
346007	EYS	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
346007	EYS	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
346007	EYS	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
346007	EYS	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
346007	EYS	HP:0007787	Posterior subcapsular cataract	HP:0040284	OMIM:602772
346007	EYS	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
346007	EYS	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
346007	EYS	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
346007	EYS	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:602772
346007	EYS	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
346007	EYS	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:602772
346007	EYS	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
346007	EYS	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
346007	EYS	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
346007	EYS	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
346007	EYS	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
346007	EYS	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
346007	EYS	HP:0000510	Rod-cone dystrophy	-	OMIM:602772
346007	EYS	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
346007	EYS	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
346007	EYS	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
346007	EYS	HP:0000575	Scotoma	5/18	OMIM:180100
346007	EYS	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
346007	EYS	HP:0000533	Chorioretinal atrophy	HP:0040284	OMIM:602772
346007	EYS	HP:0000550	Undetectable electroretinogram	-	OMIM:602772
346007	EYS	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
346007	EYS	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
346007	EYS	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
346007	EYS	HP:0000543	Optic disc pallor	-	OMIM:602772
346007	EYS	HP:0000543	Optic disc pallor	1/1	OMIM:180100
346007	EYS	HP:0000545	Myopia	-	OMIM:180100
346171	ZFP57	HP:0001250	Seizure	HP:0040283	ORPHA:99886
346171	ZFP57	HP:0001252	Hypotonia	HP:0040283	ORPHA:99886
346171	ZFP57	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:99886
346171	ZFP57	HP:0000079	Abnormality of the urinary system	HP:0040283	ORPHA:99886
346171	ZFP57	HP:0000006	Autosomal dominant inheritance	-	OMIM:601410
346171	ZFP57	HP:0000158	Macroglossia	HP:0040282	ORPHA:99886
346171	ZFP57	HP:0008255	Transient neonatal diabetes mellitus	-	OMIM:601410
346171	ZFP57	HP:0008255	Transient neonatal diabetes mellitus	HP:0040282	ORPHA:99886
346171	ZFP57	HP:0009800	Maternal diabetes	HP:0040283	ORPHA:99886
346171	ZFP57	HP:0004904	Maturity-onset diabetes of the young	HP:0040282	ORPHA:99886
346171	ZFP57	HP:0001944	Dehydration	HP:0040281	ORPHA:99886
346171	ZFP57	HP:0001944	Dehydration	-	OMIM:601410
346171	ZFP57	HP:0001953	Diabetic ketoacidosis	HP:0040284	ORPHA:99886
346171	ZFP57	HP:0003074	Hyperglycemia	-	OMIM:601410
346171	ZFP57	HP:0003074	Hyperglycemia	HP:0040281	ORPHA:99886
346171	ZFP57	HP:0000707	Abnormality of the nervous system	HP:0040283	ORPHA:99886
346171	ZFP57	HP:0012758	Neurodevelopmental delay	HP:0040283	ORPHA:99886
346171	ZFP57	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:99886
346171	ZFP57	HP:0040064	Abnormality of limbs	HP:0040283	ORPHA:99886
346171	ZFP57	HP:0040216	Hypoinsulinemia	HP:0040281	ORPHA:99886
346171	ZFP57	HP:0030057	Autoimmune antibody positivity	-	ORPHA:99886
346171	ZFP57	HP:0001525	Severe failure to thrive	-	OMIM:601410
346171	ZFP57	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:99886
346171	ZFP57	HP:0001508	Failure to thrive	HP:0040283	ORPHA:99886
346171	ZFP57	HP:0001518	Small for gestational age	HP:0040281	ORPHA:99886
346171	ZFP57	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:99886
346171	ZFP57	HP:0001511	Intrauterine growth retardation	-	OMIM:601410
346171	ZFP57	HP:0000365	Hearing impairment	HP:0040283	ORPHA:99886
346171	ZFP57	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:99886
347688	TUBB8	HP:0008669	Abnormal spermatogenesis	-	ORPHA:488191
347688	TUBB8	HP:0000007	Autosomal recessive inheritance	-	OMIM:616780
347688	TUBB8	HP:0000006	Autosomal dominant inheritance	-	OMIM:616780
347688	TUBB8	HP:0000147	Polycystic ovaries	-	ORPHA:488191
347688	TUBB8	HP:0008222	Female infertility	-	OMIM:616780
347688	TUBB8	HP:0008222	Female infertility	HP:0040280	ORPHA:488191
347688	TUBB8	HP:0020155	Abnormal oocyte morphology	HP:0040283	ORPHA:488191
347688	TUBB8	HP:0031515	Abnormal meiosis	HP:0040280	ORPHA:488191
347688	TUBB8	HP:0031516	Oocyte arrest at metaphase I	20/20	OMIM:616780
347688	TUBB8	HP:0031516	Oocyte arrest at metaphase I	HP:0040282	ORPHA:488191
347733	TUBB2B	HP:0025102	Dysgenesis of the basal ganglia	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0007301	Oromotor apraxia	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0025186	Marcus Gunn jaw winking synkinesis	HP:0040283	ORPHA:45358
347733	TUBB2B	HP:0009916	Anisocoria	HP:0040283	ORPHA:45358
347733	TUBB2B	HP:0025160	Abnormal temper tantrums	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0020214	Startle-induced seizure	HP:0040283	ORPHA:467166
347733	TUBB2B	HP:0001272	Cerebellar atrophy	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0001274	Agenesis of corpus callosum	HP:0040284	ORPHA:300573
347733	TUBB2B	HP:0001274	Agenesis of corpus callosum	2/5	OMIM:610031
347733	TUBB2B	HP:0001273	Abnormal corpus callosum morphology	HP:0040281	ORPHA:467166
347733	TUBB2B	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0001270	Motor delay	4/4	OMIM:610031
347733	TUBB2B	HP:0001269	Hemiparesis	-	OMIM:610031
347733	TUBB2B	HP:0001269	Hemiparesis	HP:0040282	ORPHA:300573
347733	TUBB2B	HP:0001288	Gait disturbance	HP:0040281	ORPHA:1766
347733	TUBB2B	HP:0001250	Seizure	HP:0040282	ORPHA:1766
347733	TUBB2B	HP:0001250	Seizure	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0001250	Seizure	-	OMIM:610031
347733	TUBB2B	HP:0001252	Hypotonia	HP:0040283	ORPHA:467166
347733	TUBB2B	HP:0001252	Hypotonia	HP:0040283	ORPHA:45358
347733	TUBB2B	HP:0001252	Hypotonia	HP:0040281	ORPHA:1766
347733	TUBB2B	HP:0001251	Ataxia	HP:0040283	ORPHA:467166
347733	TUBB2B	HP:0001251	Ataxia	HP:0040281	ORPHA:1766
347733	TUBB2B	HP:0001249	Intellectual disability	HP:0040283	ORPHA:45358
347733	TUBB2B	HP:0001249	Intellectual disability	HP:0040281	ORPHA:1766
347733	TUBB2B	HP:0001249	Intellectual disability	HP:0040282	ORPHA:300573
347733	TUBB2B	HP:0001249	Intellectual disability	4/4	OMIM:610031
347733	TUBB2B	HP:0001263	Global developmental delay	HP:0040281	ORPHA:467166
347733	TUBB2B	HP:0001263	Global developmental delay	HP:0040282	ORPHA:300573
347733	TUBB2B	HP:0001263	Global developmental delay	4/4	OMIM:610031
347733	TUBB2B	HP:0032398	Dysgyria	HP:0040281	ORPHA:467166
347733	TUBB2B	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0002539	Cortical dysplasia	HP:0040281	ORPHA:300573
347733	TUBB2B	HP:6000709	Absent Bell phenomenon	HP:0040281	ORPHA:45358
347733	TUBB2B	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:45358
347733	TUBB2B	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:1766
347733	TUBB2B	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:45358
347733	TUBB2B	HP:0025309	Abnormal pupil shape	HP:0040282	ORPHA:45358
347733	TUBB2B	HP:0001328	Specific learning disability	-	OMIM:610031
347733	TUBB2B	HP:0001339	Lissencephaly	-	OMIM:610031
347733	TUBB2B	HP:0001339	Lissencephaly	HP:0040284	ORPHA:300573
347733	TUBB2B	HP:0001338	Partial agenesis of the corpus callosum	2/5	OMIM:610031
347733	TUBB2B	HP:0000006	Autosomal dominant inheritance	-	OMIM:610031
347733	TUBB2B	HP:0001302	Pachygyria	HP:0040282	ORPHA:467166
347733	TUBB2B	HP:0001302	Pachygyria	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0001302	Pachygyria	-	OMIM:610031
347733	TUBB2B	HP:0001320	Cerebellar vermis hypoplasia	HP:0040281	ORPHA:467166
347733	TUBB2B	HP:0001320	Cerebellar vermis hypoplasia	2/5	OMIM:610031
347733	TUBB2B	HP:0001321	Cerebellar hypoplasia	-	OMIM:610031
347733	TUBB2B	HP:0032466	Aplasia of the olfactory bulb	HP:0040283	ORPHA:45358
347733	TUBB2B	HP:0001491	Congenital fibrosis of extraocular muscles	HP:0040283	OMIM:610031
347733	TUBB2B	HP:0001491	Congenital fibrosis of extraocular muscles	HP:0040281	ORPHA:45358
347733	TUBB2B	HP:0001488	Bilateral ptosis	HP:0040283	ORPHA:467166
347733	TUBB2B	HP:0001477	Compensatory chin elevation	HP:0040282	ORPHA:45358
347733	TUBB2B	HP:0008947	Floppy infant	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0012110	Hypoplasia of the pons	HP:0040281	ORPHA:467166
347733	TUBB2B	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0002013	Vomiting	HP:0040283	ORPHA:45358
347733	TUBB2B	HP:0040327	Abnormal morphology of the olfactory bulb	HP:0040282	ORPHA:467166
347733	TUBB2B	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:300573
347733	TUBB2B	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0002079	Hypoplasia of the corpus callosum	1/5	OMIM:610031
347733	TUBB2B	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:467166
347733	TUBB2B	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:467166
347733	TUBB2B	HP:0002126	Polymicrogyria	HP:0040283	ORPHA:45358
347733	TUBB2B	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:300573
347733	TUBB2B	HP:0002126	Polymicrogyria	5/5	OMIM:610031
347733	TUBB2B	HP:0002197	Generalized-onset seizure	2/4	OMIM:610031
347733	TUBB2B	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:45358
347733	TUBB2B	HP:0002273	Tetraparesis	3/4	OMIM:610031
347733	TUBB2B	HP:0002282	Gray matter heterotopia	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0010663	Abnormal thalamus morphology	HP:0040281	ORPHA:467166
347733	TUBB2B	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:467166
347733	TUBB2B	HP:0010636	Schizencephaly	HP:0040284	ORPHA:300573
347733	TUBB2B	HP:0002389	Cavum septum pellucidum	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0002365	Hypoplasia of the brainstem	5/5	OMIM:610031
347733	TUBB2B	HP:0002363	Abnormal brainstem morphology	HP:0040281	ORPHA:467166
347733	TUBB2B	HP:0002363	Abnormal brainstem morphology	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0002339	Abnormal caudate nucleus morphology	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0008527	Congenital sensorineural hearing impairment	HP:0040283	ORPHA:45358
347733	TUBB2B	HP:0002307	Drooling	-	OMIM:610031
347733	TUBB2B	HP:0030534	Abnormal best corrected visual acuity test	HP:0040281	ORPHA:45358
347733	TUBB2B	HP:0031882	Agyria	HP:0040282	ORPHA:467166
347733	TUBB2B	HP:0000646	Amblyopia	HP:0040282	ORPHA:45358
347733	TUBB2B	HP:0000616	Miosis	HP:0040282	ORPHA:45358
347733	TUBB2B	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:45358
347733	TUBB2B	HP:0011347	Abnormality of ocular abduction	HP:0040281	ORPHA:45358
347733	TUBB2B	HP:0012650	Perisylvian polymicrogyria	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0000657	Oculomotor apraxia	HP:0040282	ORPHA:467166
347733	TUBB2B	HP:0004322	Short stature	HP:0040282	ORPHA:1766
347733	TUBB2B	HP:0006956	Lateral ventricle dilatation	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0006927	Unilateral polymicrogyria	-	OMIM:610031
347733	TUBB2B	HP:0006930	Frontoparietal cortical dysplasia	-	OMIM:610031
347733	TUBB2B	HP:0100021	Cerebral palsy	HP:0040282	ORPHA:1766
347733	TUBB2B	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:1766
347733	TUBB2B	HP:0030588	Abnormal visual field test	HP:0040282	ORPHA:45358
347733	TUBB2B	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:1766
347733	TUBB2B	HP:0009380	Finger aplasia	HP:0040283	ORPHA:45358
347733	TUBB2B	HP:0000256	Macrocephaly	HP:0040283	ORPHA:467166
347733	TUBB2B	HP:0012241	Levator palpebrae superioris atrophy	HP:0040281	ORPHA:45358
347733	TUBB2B	HP:0000252	Microcephaly	HP:0040281	ORPHA:467166
347733	TUBB2B	HP:0000252	Microcephaly	HP:0040282	ORPHA:300573
347733	TUBB2B	HP:0000252	Microcephaly	4/4	OMIM:610031
347733	TUBB2B	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	HP:0040282	ORPHA:45358
347733	TUBB2B	HP:0012377	Hemianopia	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0007941	Limited extraocular movements	HP:0040283	OMIM:610031
347733	TUBB2B	HP:0000486	Strabismus	HP:0040282	ORPHA:467166
347733	TUBB2B	HP:0000486	Strabismus	HP:0040281	ORPHA:45358
347733	TUBB2B	HP:0000486	Strabismus	HP:0040282	ORPHA:1766
347733	TUBB2B	HP:0000486	Strabismus	HP:0040283	ORPHA:300573
347733	TUBB2B	HP:0030211	Slow pupillary light response	HP:0040281	ORPHA:45358
347733	TUBB2B	HP:0012469	Infantile spasms	HP:0040283	ORPHA:467166
347733	TUBB2B	HP:0012469	Infantile spasms	1/4	OMIM:610031
347733	TUBB2B	HP:0000478	Abnormality of the eye	HP:0040283	ORPHA:1766
347733	TUBB2B	HP:0000478	Abnormality of the eye	-	OMIM:610031
347733	TUBB2B	HP:0000473	Torticollis	HP:0040283	ORPHA:45358
347733	TUBB2B	HP:0025721	Limited vertical extraocular movement	HP:0040281	ORPHA:45358
347733	TUBB2B	HP:0012502	Abnormality of the internal capsule	HP:0040281	ORPHA:467166
347733	TUBB2B	HP:0000518	Cataract	HP:0040283	ORPHA:1766
347733	TUBB2B	HP:0000518	Cataract	HP:0040283	ORPHA:45358
347733	TUBB2B	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:45358
347733	TUBB2B	HP:0000508	Ptosis	HP:0040281	ORPHA:45358
347733	TUBB2B	HP:0000504	Abnormality of vision	HP:0040283	ORPHA:1766
347733	TUBB2B	HP:0000577	Exotropia	HP:0040281	ORPHA:45358
347733	TUBB2B	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:467166
347733	TUBB2B	HP:0012547	Abnormal involuntary eye movements	HP:0040282	ORPHA:45358
347733	TUBB2B	HP:0000565	Esotropia	HP:0040283	ORPHA:45358
347733	TUBB2B	HP:0000539	Abnormality of refraction	HP:0040282	ORPHA:45358
347733	TUBB2B	HP:0000542	Impaired ocular adduction	HP:0040281	ORPHA:45358
347734	SLC35B2	HP:0001181	Adducted thumb	1/2	OMIM:620269
347734	SLC35B2	HP:0002451	Limb dystonia	1/2	OMIM:620269
347734	SLC35B2	HP:0002415	Leukodystrophy	1/2	OMIM:620269
347734	SLC35B2	HP:0001272	Cerebellar atrophy	1/2	OMIM:620269
347734	SLC35B2	HP:0001263	Global developmental delay	2/2	OMIM:620269
347734	SLC35B2	HP:0001382	Joint hypermobility	1/2	OMIM:620269
347734	SLC35B2	HP:0033725	Thin corpus callosum	1/2	OMIM:620269
347734	SLC35B2	HP:0001344	Absent speech	1/2	OMIM:620269
347734	SLC35B2	HP:0002673	Coxa valga	1/2	OMIM:620269
347734	SLC35B2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620269
347734	SLC35B2	HP:0002650	Scoliosis	2/2	OMIM:620269
347734	SLC35B2	HP:0000162	Glossoptosis	1/2	OMIM:620269
347734	SLC35B2	HP:0000175	Cleft palate	1/2	OMIM:620269
347734	SLC35B2	HP:0008936	Axial hypotonia	1/2	OMIM:620269
347734	SLC35B2	HP:0004626	Lumbar scoliosis	1/2	OMIM:620269
347734	SLC35B2	HP:0002079	Hypoplasia of the corpus callosum	1/2	OMIM:620269
347734	SLC35B2	HP:0002059	Cerebral atrophy	1/2	OMIM:620269
347734	SLC35B2	HP:0002188	Delayed CNS myelination	1/2	OMIM:620269
347734	SLC35B2	HP:0010585	Small epiphyses	1/2	OMIM:620269
347734	SLC35B2	HP:0003593	Infantile onset	1/2	OMIM:620269
347734	SLC35B2	HP:0011968	Feeding difficulties	1/2	OMIM:620269
347734	SLC35B2	HP:0004976	Knee dislocation	1/2	OMIM:620269
347734	SLC35B2	HP:0008434	Hypoplastic cervical vertebrae	1/2	OMIM:620269
347734	SLC35B2	HP:0004233	Advanced ossification of carpal bones	1/2	OMIM:620269
347734	SLC35B2	HP:0000666	Horizontal nystagmus	1/2	OMIM:620269
347734	SLC35B2	HP:0004322	Short stature	1/2	OMIM:620269
347734	SLC35B2	HP:0030674	Antenatal onset	1/2	OMIM:620269
347734	SLC35B2	HP:0003042	Elbow dislocation	1/2	OMIM:620269
347734	SLC35B2	HP:0003026	Short long bone	1/2	OMIM:620269
347734	SLC35B2	HP:0000278	Retrognathia	1/2	OMIM:620269
347734	SLC35B2	HP:0000201	Pierre-Robin sequence	1/2	OMIM:620269
347734	SLC35B2	HP:0012368	Flat face	1/2	OMIM:620269
348180	CTU2	HP:0010954	Hypoplastic right heart	1/3	OMIM:618142
348180	CTU2	HP:0001290	Generalized hypotonia	-	OMIM:618142
348180	CTU2	HP:0001274	Agenesis of corpus callosum	1/3	OMIM:618142
348180	CTU2	HP:0001250	Seizure	-	OMIM:618142
348180	CTU2	HP:0002553	Highly arched eyebrow	-	OMIM:618142
348180	CTU2	HP:0000062	Ambiguous genitalia	1/3	OMIM:618142
348180	CTU2	HP:0000054	Micropenis	1/3	OMIM:618142
348180	CTU2	HP:0001339	Lissencephaly	1/3	OMIM:618142
348180	CTU2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618142
348180	CTU2	HP:0000122	Unilateral renal agenesis	3/3	OMIM:618142
348180	CTU2	HP:0002079	Hypoplasia of the corpus callosum	1/3	OMIM:618142
348180	CTU2	HP:0004736	Crossed fused renal ectopia	1/3	OMIM:618142
348180	CTU2	HP:0010557	Overlapping fingers	-	OMIM:618142
348180	CTU2	HP:0003577	Congenital onset	3/3	OMIM:618142
348180	CTU2	HP:0002280	Enlarged cisterna magna	1/3	OMIM:618142
348180	CTU2	HP:0010751	Dimple chin	-	OMIM:618142
348180	CTU2	HP:0100259	Postaxial polydactyly	-	OMIM:618142
348180	CTU2	HP:0100258	Preaxial polydactyly	1/3	OMIM:618142
348180	CTU2	HP:0000278	Retrognathia	1/3	OMIM:618142
348180	CTU2	HP:0000252	Microcephaly	3/3	OMIM:618142
348180	CTU2	HP:0000248	Brachycephaly	1/3	OMIM:618142
348180	CTU2	HP:0000218	High palate	-	OMIM:618142
348180	CTU2	HP:0001511	Intrauterine growth retardation	2/3	OMIM:618142
348180	CTU2	HP:0000369	Low-set ears	1/3	OMIM:618142
348180	CTU2	HP:0000341	Narrow forehead	-	OMIM:618142
348180	CTU2	HP:0000347	Micrognathia	3/3	OMIM:618142
348180	CTU2	HP:0000316	Hypertelorism	-	OMIM:618142
348180	CTU2	HP:0001643	Patent ductus arteriosus	-	OMIM:618142
348180	CTU2	HP:0001629	Ventricular septal defect	1/3	OMIM:618142
348180	CTU2	HP:0001631	Atrial septal defect	-	OMIM:618142
348180	CTU2	HP:0000400	Macrotia	1/3	OMIM:618142
348180	CTU2	HP:0005280	Depressed nasal bridge	-	OMIM:618142
348180	CTU2	HP:0001776	Bilateral talipes equinovarus	1/3	OMIM:618142
348180	CTU2	HP:0001845	Overlapping toe	1/3	OMIM:618142
348180	CTU2	HP:0000582	Upslanted palpebral fissure	-	OMIM:618142
348932	SLC6A18	HP:0002154	Hyperglycinemia	-	ORPHA:42062
348932	SLC6A18	HP:0008358	Hyperprolinemia	-	ORPHA:42062
348932	SLC6A18	HP:0003080	Hydroxyprolinuria	HP:0040280	ORPHA:42062
348932	SLC6A18	HP:0003108	Hyperglycinuria	HP:0040280	ORPHA:42062
348932	SLC6A18	HP:0003137	Prolinuria	HP:0040280	ORPHA:42062
348932	SLC6A18	HP:0003260	Hydroxyprolinemia	-	ORPHA:42062
348938	NIPAL4	HP:0100806	Sepsis	HP:0040283	ORPHA:313
348938	NIPAL4	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:313
348938	NIPAL4	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:313
348938	NIPAL4	HP:0007503	Generalized ichthyosis	27/27	OMIM:612281
348938	NIPAL4	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	17/50	OMIM:612281
348938	NIPAL4	HP:0000007	Autosomal recessive inheritance	-	OMIM:612281
348938	NIPAL4	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:313
348938	NIPAL4	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:313
348938	NIPAL4	HP:0003577	Congenital onset	23/23	OMIM:612281
348938	NIPAL4	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:313
348938	NIPAL4	HP:0100758	Gangrene	HP:0040283	ORPHA:313
348938	NIPAL4	HP:0001036	Parakeratosis	6/23	OMIM:612281
348938	NIPAL4	HP:0001019	Erythroderma	6/23	OMIM:612281
348938	NIPAL4	HP:0001019	Erythroderma	HP:0040281	ORPHA:79394
348938	NIPAL4	HP:0001019	Erythroderma	HP:0040281	ORPHA:313
348938	NIPAL4	HP:0200020	Corneal erosion	HP:0040282	ORPHA:79394
348938	NIPAL4	HP:0025092	Epidermal acanthosis	-	OMIM:612281
348938	NIPAL4	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:313
348938	NIPAL4	HP:0001944	Dehydration	HP:0040283	ORPHA:313
348938	NIPAL4	HP:0000656	Ectropion	HP:0040283	OMIM:612281
348938	NIPAL4	HP:0000656	Ectropion	HP:0040281	ORPHA:79394
348938	NIPAL4	HP:0000656	Ectropion	HP:0040281	ORPHA:313
348938	NIPAL4	HP:0004322	Short stature	HP:0040283	ORPHA:313
348938	NIPAL4	HP:0004322	Short stature	HP:0040283	ORPHA:79394
348938	NIPAL4	HP:0000989	Pruritus	HP:0040281	ORPHA:313
348938	NIPAL4	HP:0000989	Pruritus	HP:0040281	ORPHA:79394
348938	NIPAL4	HP:0000982	Palmoplantar keratoderma	23/23	OMIM:612281
348938	NIPAL4	HP:0000982	Palmoplantar keratoderma	HP:0040282	ORPHA:79394
348938	NIPAL4	HP:0000958	Dry skin	HP:0040281	ORPHA:313
348938	NIPAL4	HP:0000958	Dry skin	-	OMIM:612281
348938	NIPAL4	HP:0000966	Hypohidrosis	HP:0040283	OMIM:612281
348938	NIPAL4	HP:0000966	Hypohidrosis	HP:0040281	ORPHA:79394
348938	NIPAL4	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:313
348938	NIPAL4	HP:0000962	Hyperkeratosis	6/23	OMIM:612281
348938	NIPAL4	HP:0040162	Orthokeratosis	-	OMIM:612281
348938	NIPAL4	HP:0008070	Sparse hair	HP:0040281	ORPHA:313
348938	NIPAL4	HP:0008064	Ichthyosis	HP:0040281	ORPHA:313
348938	NIPAL4	HP:0008064	Ichthyosis	HP:0040281	ORPHA:79394
348938	NIPAL4	HP:0040189	Scaling skin	-	OMIM:612281
348938	NIPAL4	HP:0001597	Abnormal nail morphology	HP:0040282	ORPHA:79394
348938	NIPAL4	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:313
348938	NIPAL4	HP:0001596	Alopecia	HP:0040282	ORPHA:79394
348938	NIPAL4	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:313
348938	NIPAL4	HP:0001508	Failure to thrive	HP:0040282	ORPHA:79394
348938	NIPAL4	HP:0011039	Abnormal helix morphology	HP:0040282	ORPHA:313
348938	NIPAL4	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:313
348938	NIPAL4	HP:0000365	Hearing impairment	HP:0040282	ORPHA:79394
348938	NIPAL4	HP:0000491	Keratitis	HP:0040282	ORPHA:79394
348980	HCN1	HP:0020221	Clonic seizure	3/6	OMIM:615871
348980	HCN1	HP:0010850	EEG with spike-wave complexes	HP:0040283	ORPHA:36387
348980	HCN1	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
348980	HCN1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
348980	HCN1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
348980	HCN1	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
348980	HCN1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
348980	HCN1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:442835
348980	HCN1	HP:0001250	Seizure	HP:0040282	ORPHA:442835
348980	HCN1	HP:0001250	Seizure	19/19	OMIM:618482
348980	HCN1	HP:0001252	Hypotonia	HP:0040283	ORPHA:36387
348980	HCN1	HP:0001251	Ataxia	2/6	OMIM:615871
348980	HCN1	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
348980	HCN1	HP:0001251	Ataxia	HP:0040283	ORPHA:36387
348980	HCN1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
348980	HCN1	HP:0001249	Intellectual disability	6/6	OMIM:615871
348980	HCN1	HP:0001249	Intellectual disability	13/19	OMIM:618482
348980	HCN1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
348980	HCN1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
348980	HCN1	HP:0001263	Global developmental delay	HP:0040284	OMIM:618482
348980	HCN1	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
348980	HCN1	HP:0008770	Obsessive-compulsive trait	HP:0040284	ORPHA:36387
348980	HCN1	HP:0007359	Focal-onset seizure	4/6	OMIM:615871
348980	HCN1	HP:0007359	Focal-onset seizure	HP:0040284	ORPHA:36387
348980	HCN1	HP:0002539	Cortical dysplasia	HP:0040283	ORPHA:36387
348980	HCN1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
348980	HCN1	HP:0003829	Typified by incomplete penetrance	-	OMIM:618482
348980	HCN1	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
348980	HCN1	HP:0001344	Absent speech	1/6	OMIM:615871
348980	HCN1	HP:0001337	Tremor	HP:0040283	ORPHA:442835
348980	HCN1	HP:0001337	Tremor	HP:0040284	ORPHA:36387
348980	HCN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:615871
348980	HCN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618482
348980	HCN1	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
348980	HCN1	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
348980	HCN1	HP:0004684	Talipes valgus	HP:0040284	ORPHA:36387
348980	HCN1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
348980	HCN1	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:36387
348980	HCN1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:36387
348980	HCN1	HP:0002069	Bilateral tonic-clonic seizure	4/6	OMIM:615871
348980	HCN1	HP:0002067	Bradykinesia	HP:0040284	ORPHA:36387
348980	HCN1	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
348980	HCN1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
348980	HCN1	HP:0002123	Generalized myoclonic seizure	HP:0040283	ORPHA:36387
348980	HCN1	HP:0002121	Generalized non-motor (absence) seizure	6/6	OMIM:615871
348980	HCN1	HP:0002121	Generalized non-motor (absence) seizure	-	OMIM:618482
348980	HCN1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040282	ORPHA:36387
348980	HCN1	HP:0002133	Status epilepticus	4/6	OMIM:615871
348980	HCN1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
348980	HCN1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:36387
348980	HCN1	HP:0002197	Generalized-onset seizure	HP:0040281	ORPHA:36387
348980	HCN1	HP:0003593	Infantile onset	5/6	OMIM:615871
348980	HCN1	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
348980	HCN1	HP:0200134	Epileptic encephalopathy	-	OMIM:615871
348980	HCN1	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:36387
348980	HCN1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040283	ORPHA:442835
348980	HCN1	HP:0007018	Attention deficit hyperactivity disorder	1/6	OMIM:615871
348980	HCN1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:442835
348980	HCN1	HP:0007058	Generalized cerebral atrophy/hypoplasia	HP:0040283	ORPHA:36387
348980	HCN1	HP:0002384	Focal impaired awareness seizure	HP:0040284	ORPHA:36387
348980	HCN1	HP:0002376	Developmental regression	HP:0040282	ORPHA:442835
348980	HCN1	HP:0002376	Developmental regression	HP:0040283	ORPHA:36387
348980	HCN1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	5/6	OMIM:615871
348980	HCN1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	-	OMIM:618482
348980	HCN1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040282	ORPHA:36387
348980	HCN1	HP:0002317	Unsteady gait	HP:0040283	ORPHA:442835
348980	HCN1	HP:0010844	EEG with multifocal slow activity	HP:0040282	ORPHA:442835
348980	HCN1	HP:0100660	Dyskinesia	HP:0040283	ORPHA:442835
348980	HCN1	HP:0010819	Atonic seizure	HP:0040283	ORPHA:36387
348980	HCN1	HP:0100694	Tibial torsion	HP:0040284	ORPHA:36387
348980	HCN1	HP:0002311	Incoordination	HP:0040283	ORPHA:36387
348980	HCN1	HP:0000639	Nystagmus	HP:0040283	ORPHA:442835
348980	HCN1	HP:0000648	Optic atrophy	HP:0040284	ORPHA:442835
348980	HCN1	HP:0000668	Hypodontia	HP:0040283	ORPHA:442835
348980	HCN1	HP:0004322	Short stature	HP:0040283	ORPHA:442835
348980	HCN1	HP:0004305	Involuntary movements	HP:0040283	ORPHA:442835
348980	HCN1	HP:0003066	Limited knee extension	HP:0040284	ORPHA:36387
348980	HCN1	HP:0000739	Anxiety	HP:0040284	ORPHA:36387
348980	HCN1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:442835
348980	HCN1	HP:0000750	Delayed speech and language development	2/19	OMIM:618482
348980	HCN1	HP:0000717	Autism	HP:0040283	ORPHA:442835
348980	HCN1	HP:0000729	Autistic behavior	3/19	OMIM:618482
348980	HCN1	HP:0000729	Autistic behavior	HP:0040284	ORPHA:36387
348980	HCN1	HP:0000729	Autistic behavior	4/6	OMIM:615871
348980	HCN1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:442835
348980	HCN1	HP:0011463	Childhood onset	1/6	OMIM:615871
348980	HCN1	HP:0011443	Abnormality of coordination	HP:0040282	ORPHA:442835
348980	HCN1	HP:0000252	Microcephaly	HP:0040283	ORPHA:442835
348980	HCN1	HP:0000252	Microcephaly	2/19	OMIM:618482
348980	HCN1	HP:0001558	Decreased fetal movement	HP:0040283	ORPHA:442835
348980	HCN1	HP:0001508	Failure to thrive	HP:0040282	ORPHA:442835
348980	HCN1	HP:0000348	High forehead	HP:0040283	ORPHA:442835
348980	HCN1	HP:0032794	Myoclonic seizure	4/6	OMIM:615871
348980	HCN1	HP:0011151	Atypical absence status epilepticus	HP:0040283	ORPHA:36387
348980	HCN1	HP:0000494	Downslanted palpebral fissures	HP:0040283	ORPHA:442835
348980	HCN1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:442835
348980	HCN1	HP:0012447	Abnormal myelination	HP:0040283	ORPHA:442835
348980	HCN1	HP:0001763	Pes planus	HP:0040284	ORPHA:36387
348980	HCN1	HP:0000508	Ptosis	HP:0040283	ORPHA:442835
348980	HCN1	HP:0000504	Abnormality of vision	HP:0040284	ORPHA:442835
348980	HCN1	HP:0012547	Abnormal involuntary eye movements	HP:0040284	ORPHA:442835
348980	HCN1	HP:0000546	Retinal degeneration	HP:0040284	ORPHA:442835
352909	DNAAF3	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
352909	DNAAF3	HP:0001217	Clubbing	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0000007	Autosomal recessive inheritance	-	OMIM:606763
352909	DNAAF3	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
352909	DNAAF3	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0031245	Productive cough	HP:0040282	ORPHA:244
352909	DNAAF3	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0002098	Respiratory distress	-	OMIM:606763
352909	DNAAF3	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
352909	DNAAF3	HP:0100582	Nasal polyposis	-	OMIM:606763
352909	DNAAF3	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
352909	DNAAF3	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0002110	Bronchiectasis	-	OMIM:606763
352909	DNAAF3	HP:0008222	Female infertility	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0003577	Congenital onset	-	OMIM:606763
352909	DNAAF3	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
352909	DNAAF3	HP:0002205	Recurrent respiratory infections	-	OMIM:606763
352909	DNAAF3	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
352909	DNAAF3	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
352909	DNAAF3	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
352909	DNAAF3	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0000789	Infertility	-	OMIM:606763
352909	DNAAF3	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
352909	DNAAF3	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
352909	DNAAF3	HP:0030828	Wheezing	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0003251	Male infertility	HP:0040282	ORPHA:244
352909	DNAAF3	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
352909	DNAAF3	HP:0012259	Absent inner and outer dynein arms	-	OMIM:606763
352909	DNAAF3	HP:0012265	Ciliary dyskinesia	-	OMIM:606763
352909	DNAAF3	HP:0012263	Immotile cilia	-	OMIM:606763
352909	DNAAF3	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
352909	DNAAF3	HP:0000246	Sinusitis	-	OMIM:606763
352909	DNAAF3	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
352909	DNAAF3	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
352909	DNAAF3	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
352909	DNAAF3	HP:0000388	Otitis media	-	OMIM:606763
352909	DNAAF3	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0001696	Situs inversus totalis	-	OMIM:606763
352909	DNAAF3	HP:0000365	Hearing impairment	HP:0040283	OMIM:606763
352909	DNAAF3	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
352909	DNAAF3	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0001651	Dextrocardia	-	OMIM:606763
352909	DNAAF3	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
352909	DNAAF3	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
352909	DNAAF3	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
352909	DNAAF3	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
352909	DNAAF3	HP:0001746	Asplenia	HP:0040284	ORPHA:244
352909	DNAAF3	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
352909	DNAAF3	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
352909	DNAAF3	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
352909	DNAAF3	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
352909	DNAAF3	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
353116	RILPL1	HP:0002465	Poor speech	1/2	OMIM:619790
353116	RILPL1	HP:0002460	Distal muscle weakness	10/10	OMIM:619790
353116	RILPL1	HP:0003736	Autophagic vacuoles	1/2	OMIM:619790
353116	RILPL1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:98897
353116	RILPL1	HP:0001284	Areflexia	2/2	OMIM:619790
353116	RILPL1	HP:0001284	Areflexia	HP:0040283	ORPHA:98897
353116	RILPL1	HP:0001260	Dysarthria	9/10	OMIM:619790
353116	RILPL1	HP:0008756	Bowing of the vocal cords	HP:0040282	ORPHA:98897
353116	RILPL1	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:98897
353116	RILPL1	HP:0003805	Rimmed vacuoles	10/10	OMIM:619790
353116	RILPL1	HP:0031162	Impaired oropharyngeal swallow response	HP:0040282	ORPHA:98897
353116	RILPL1	HP:0001337	Tremor	1/10	OMIM:619790
353116	RILPL1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619790
353116	RILPL1	HP:0000183	Tongue muscle weakness	HP:0040282	ORPHA:98897
353116	RILPL1	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040284	ORPHA:98897
353116	RILPL1	HP:0008959	Distal upper limb muscle weakness	HP:0040283	ORPHA:98897
353116	RILPL1	HP:0008963	Tibialis muscle weakness	HP:0040283	ORPHA:98897
353116	RILPL1	HP:0008944	Distal lower limb amyotrophy	HP:0040282	ORPHA:98897
353116	RILPL1	HP:0002705	High, narrow palate	HP:0040282	ORPHA:98897
353116	RILPL1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:98897
353116	RILPL1	HP:0002015	Dysphagia	8/10	OMIM:619790
353116	RILPL1	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:98897
353116	RILPL1	HP:0002058	Myopathic facies	HP:0040282	ORPHA:98897
353116	RILPL1	HP:0003458	EMG: myopathic abnormalities	10/10	OMIM:619790
353116	RILPL1	HP:0002100	Recurrent aspiration pneumonia	HP:0040282	ORPHA:98897
353116	RILPL1	HP:0002174	Postural tremor	2/2	OMIM:619790
353116	RILPL1	HP:0010550	Paraplegia	HP:0040284	ORPHA:98897
353116	RILPL1	HP:0003557	Increased variability in muscle fiber diameter	1/2	OMIM:619790
353116	RILPL1	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:98897
353116	RILPL1	HP:0008376	Nasal dysarthria	HP:0040281	ORPHA:98897
353116	RILPL1	HP:0430015	Abnormal morphology of musculature of pharynx	HP:0040282	ORPHA:98897
353116	RILPL1	HP:0007149	Distal upper limb amyotrophy	HP:0040282	ORPHA:98897
353116	RILPL1	HP:0009073	Progressive proximal muscle weakness	HP:0040283	ORPHA:98897
353116	RILPL1	HP:0000651	Diplopia	1/2	OMIM:619790
353116	RILPL1	HP:0009063	Progressive distal muscle weakness	HP:0040282	ORPHA:98897
353116	RILPL1	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:98897
353116	RILPL1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:98897
353116	RILPL1	HP:0011462	Young adult onset	2/2	OMIM:619790
353116	RILPL1	HP:0003236	Elevated circulating creatine kinase concentration	1/2	OMIM:619790
353116	RILPL1	HP:0000218	High palate	1/2	OMIM:619790
353116	RILPL1	HP:0000218	High palate	HP:0040282	ORPHA:98897
353116	RILPL1	HP:0007838	Progressive ptosis	HP:0040281	ORPHA:98897
353116	RILPL1	HP:0001604	Vocal cord paresis	HP:0040282	ORPHA:98897
353116	RILPL1	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040283	ORPHA:98897
353116	RILPL1	HP:0001611	Hypernasal speech	1/2	OMIM:619790
353116	RILPL1	HP:0000301	Abnormality of facial musculature	HP:0040281	ORPHA:98897
353116	RILPL1	HP:0030319	Weakness of facial musculature	9/10	OMIM:619790
353116	RILPL1	HP:0030319	Weakness of facial musculature	HP:0040281	ORPHA:98897
353116	RILPL1	HP:3000010	Abnormality of orbicularis oris muscle	HP:0040284	ORPHA:98897
353116	RILPL1	HP:0000408	Progressive sensorineural hearing impairment	HP:0040283	ORPHA:98897
353116	RILPL1	HP:3000005	Abnormality of masseter muscle	HP:0040283	ORPHA:98897
353116	RILPL1	HP:0001824	Weight loss	HP:0040281	ORPHA:98897
353116	RILPL1	HP:0000508	Ptosis	10/10	OMIM:619790
353116	RILPL1	HP:0000597	Ophthalmoparesis	HP:0040281	ORPHA:98897
353116	RILPL1	HP:0000590	Progressive external ophthalmoplegia	HP:0040281	ORPHA:98897
353116	RILPL1	HP:0012548	Fatty replacement of skeletal muscle	1/2	OMIM:619790
353116	RILPL1	HP:0000544	External ophthalmoplegia	8/10	OMIM:619790
353238	PADI6	HP:0032479	Preimplantation lethality	-	OMIM:617234
353238	PADI6	HP:0000007	Autosomal recessive inheritance	-	OMIM:617234
353238	PADI6	HP:0000789	Infertility	-	OMIM:617234
359948	IRF2BP2	HP:0003765	Psoriasiform dermatitis	1/3	OMIM:617765
359948	IRF2BP2	HP:0031035	Chronic infection	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0031020	Bone marrow hypercellularity	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0001324	Muscle weakness	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0000006	Autosomal dominant inheritance	-	OMIM:617765
359948	IRF2BP2	HP:0002653	Bone pain	HP:0040283	ORPHA:520
359948	IRF2BP2	HP:0025420	Diffuse alveolar hemorrhage	HP:0040283	ORPHA:520
359948	IRF2BP2	HP:0031245	Productive cough	HP:0040283	ORPHA:520
359948	IRF2BP2	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:520
359948	IRF2BP2	HP:0002720	Decreased circulating IgA concentration	3/3	OMIM:617765
359948	IRF2BP2	HP:0002027	Abdominal pain	HP:0040283	ORPHA:520
359948	IRF2BP2	HP:0002028	Chronic diarrhea	1/3	OMIM:617765
359948	IRF2BP2	HP:0030955	Addictive alcohol use	HP:0040283	ORPHA:520
359948	IRF2BP2	HP:0002039	Anorexia	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0011900	Hypofibrinogenemia	HP:0040283	ORPHA:520
359948	IRF2BP2	HP:0100758	Gangrene	HP:0040284	ORPHA:520
359948	IRF2BP2	HP:0002321	Vertigo	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0100608	Metrorrhagia	HP:0040284	ORPHA:520
359948	IRF2BP2	HP:0032140	Decreased specific antibody response to vaccination	1/1	OMIM:617765
359948	IRF2BP2	HP:0005521	Disseminated intravascular coagulation	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0001974	Increased total leukocyte count	HP:0040283	ORPHA:520
359948	IRF2BP2	HP:0001945	Fever	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0001903	Anemia	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0004315	Decreased circulating IgG concentration	3/3	OMIM:617765
359948	IRF2BP2	HP:0000790	Hematuria	HP:0040284	ORPHA:520
359948	IRF2BP2	HP:0010280	Stomatitis	HP:0040283	ORPHA:520
359948	IRF2BP2	HP:0000979	Purpura	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0000978	Bruising susceptibility	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0000967	Petechiae	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:520
359948	IRF2BP2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0000225	Gingival bleeding	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0031364	Ecchymosis	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0002850	Decreased circulating total IgM	3/3	OMIM:617765
359948	IRF2BP2	HP:0012378	Fatigue	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0030140	Oral cavity bleeding	HP:0040283	ORPHA:520
359948	IRF2BP2	HP:0005387	Combined immunodeficiency	3/3	OMIM:617765
359948	IRF2BP2	HP:0005357	Defective B cell differentiation	-	OMIM:617765
359948	IRF2BP2	HP:0011108	Recurrent sinusitis	3/3	OMIM:617765
359948	IRF2BP2	HP:0000421	Epistaxis	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0001824	Weight loss	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0001892	Abnormal bleeding	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0030388	Decreased class-switched memory B cell proportion	2/3	OMIM:617765
359948	IRF2BP2	HP:0001882	Decreased total leukocyte count	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0001876	Pancytopenia	HP:0040282	ORPHA:520
359948	IRF2BP2	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:520
374291	NDUFS7	HP:0025116	Fetal distress	HP:0040283	ORPHA:2609
374291	NDUFS7	HP:0002490	Increased CSF lactate	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0001138	Optic neuropathy	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0007256	Abnormal pyramidal sign	-	OMIM:618224
374291	NDUFS7	HP:0002421	Poor head control	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0002415	Leukodystrophy	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0003737	Mitochondrial myopathy	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0001298	Encephalopathy	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0001298	Encephalopathy	-	OMIM:618224
374291	NDUFS7	HP:0001290	Generalized hypotonia	-	OMIM:618224
374291	NDUFS7	HP:0001254	Lethargy	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0001254	Lethargy	-	OMIM:618224
374291	NDUFS7	HP:0001250	Seizure	-	OMIM:618224
374291	NDUFS7	HP:0001252	Hypotonia	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0001251	Ataxia	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0001251	Ataxia	1/2	OMIM:618224
374291	NDUFS7	HP:0001260	Dysarthria	1/2	OMIM:618224
374291	NDUFS7	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0002572	Episodic vomiting	1/2	OMIM:618224
374291	NDUFS7	HP:0003819	Death in childhood	2/2	OMIM:618224
374291	NDUFS7	HP:0001347	Hyperreflexia	-	OMIM:618224
374291	NDUFS7	HP:0001332	Dystonia	-	OMIM:618224
374291	NDUFS7	HP:0001324	Muscle weakness	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0000007	Autosomal recessive inheritance	-	OMIM:618224
374291	NDUFS7	HP:0000114	Proximal tubulopathy	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0002013	Vomiting	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0002093	Respiratory insufficiency	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0002093	Respiratory insufficiency	-	OMIM:618224
374291	NDUFS7	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:618224
374291	NDUFS7	HP:0011923	Decreased activity of mitochondrial complex I	HP:0040280	ORPHA:2609
374291	NDUFS7	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0002240	Hepatomegaly	-	OMIM:618224
374291	NDUFS7	HP:0003542	Increased circulating pyruvate concentration	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:2609
374291	NDUFS7	HP:0011968	Feeding difficulties	1/2	OMIM:618224
374291	NDUFS7	HP:0008316	Abnormal mitochondria in muscle tissue	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0002376	Developmental regression	-	OMIM:618224
374291	NDUFS7	HP:0003676	Progressive	-	OMIM:618224
374291	NDUFS7	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0000639	Nystagmus	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0000618	Blindness	HP:0040283	ORPHA:2609
374291	NDUFS7	HP:0001943	Hypoglycemia	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0001942	Metabolic acidosis	-	OMIM:618224
374291	NDUFS7	HP:0012748	Focal T2 hyperintense brainstem lesion	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0003128	Lactic acidosis	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:2609
374291	NDUFS7	HP:0000817	Reduced eye contact	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0007704	Paroxysmal involuntary eye movements	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0000252	Microcephaly	HP:0040283	ORPHA:2609
374291	NDUFS7	HP:0001508	Failure to thrive	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0001639	Hypertrophic cardiomyopathy	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0000486	Strabismus	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0000508	Ptosis	HP:0040281	ORPHA:2609
374291	NDUFS7	HP:0000543	Optic disc pallor	HP:0040281	ORPHA:2609
374354	NHLRC2	HP:0002445	Tetraplegia	-	OMIM:618278
374354	NHLRC2	HP:0001270	Motor delay	1/1	OMIM:618278
374354	NHLRC2	HP:0001250	Seizure	2/3	OMIM:618278
374354	NHLRC2	HP:0001263	Global developmental delay	3/3	OMIM:618278
374354	NHLRC2	HP:0003819	Death in childhood	3/3	OMIM:618278
374354	NHLRC2	HP:0001332	Dystonia	4/4	OMIM:618278
374354	NHLRC2	HP:0033725	Thin corpus callosum	1/1	OMIM:618278
374354	NHLRC2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618278
374354	NHLRC2	HP:0001336	Myoclonus	1/1	OMIM:618278
374354	NHLRC2	HP:0008936	Axial hypotonia	3/3	OMIM:618278
374354	NHLRC2	HP:0002789	Tachypnea	-	OMIM:618278
374354	NHLRC2	HP:0001433	Hepatosplenomegaly	1/1	OMIM:618278
374354	NHLRC2	HP:0001404	Hepatocellular necrosis	-	OMIM:618278
374354	NHLRC2	HP:0001414	Microvesicular hepatic steatosis	1/3	OMIM:618278
374354	NHLRC2	HP:0002719	Recurrent infections	1/1	OMIM:618278
374354	NHLRC2	HP:0002014	Diarrhea	3/3	OMIM:618278
374354	NHLRC2	HP:0002093	Respiratory insufficiency	3/3	OMIM:618278
374354	NHLRC2	HP:0002079	Hypoplasia of the corpus callosum	-	OMIM:618278
374354	NHLRC2	HP:0002119	Ventriculomegaly	1/1	OMIM:618278
374354	NHLRC2	HP:0008282	Unconjugated hyperbilirubinemia	1/1	OMIM:618278
374354	NHLRC2	HP:0002240	Hepatomegaly	3/3	OMIM:618278
374354	NHLRC2	HP:0004870	Chronic hemolytic anemia	3/3	OMIM:618278
374354	NHLRC2	HP:0002205	Recurrent respiratory infections	3/3	OMIM:618278
374354	NHLRC2	HP:0002206	Pulmonary fibrosis	1/1	OMIM:618278
374354	NHLRC2	HP:0100750	Atelectasis	1/1	OMIM:618278
374354	NHLRC2	HP:0011968	Feeding difficulties	3/3	OMIM:618278
374354	NHLRC2	HP:0025066	Decreased mean corpuscular volume	-	OMIM:618278
374354	NHLRC2	HP:0003623	Neonatal onset	4/4	OMIM:618278
374354	NHLRC2	HP:0001974	Increased total leukocyte count	1/1	OMIM:618278
374354	NHLRC2	HP:0001923	Reticulocytosis	-	OMIM:618278
374354	NHLRC2	HP:0004315	Decreased circulating IgG concentration	1/1	OMIM:618278
374354	NHLRC2	HP:0000767	Pectus excavatum	1/1	OMIM:618278
374354	NHLRC2	HP:0000737	Irritability	3/3	OMIM:618278
374354	NHLRC2	HP:0004445	Elliptocytosis	-	OMIM:618278
374354	NHLRC2	HP:0004447	Poikilocytosis	-	OMIM:618278
374354	NHLRC2	HP:0000817	Reduced eye contact	3/3	OMIM:618278
374354	NHLRC2	HP:0002878	Respiratory failure	1/1	OMIM:618278
374354	NHLRC2	HP:0001508	Failure to thrive	3/3	OMIM:618278
374354	NHLRC2	HP:0001640	Cardiomegaly	2/4	OMIM:618278
374354	NHLRC2	HP:0001714	Ventricular hypertrophy	1/1	OMIM:618278
374354	NHLRC2	HP:0000486	Strabismus	3/3	OMIM:618278
374354	NHLRC2	HP:0012444	Brain atrophy	3/3	OMIM:618278
374354	NHLRC2	HP:0011273	Anisocytosis	-	OMIM:618278
374354	NHLRC2	HP:0000505	Visual impairment	3/3	OMIM:618278
374354	NHLRC2	HP:0001878	Hemolytic anemia	1/1	OMIM:618278
374393	FAM111B	HP:0002522	Areflexia of lower limbs	3/3	OMIM:615704
374393	FAM111B	HP:0001324	Muscle weakness	5/5	OMIM:615704
374393	FAM111B	HP:0000006	Autosomal dominant inheritance	-	OMIM:615704
374393	FAM111B	HP:0002650	Scoliosis	2/8	OMIM:615704
374393	FAM111B	HP:0002091	Restrictive ventilatory defect	5/5	OMIM:615704
374393	FAM111B	HP:0002164	Nail dysplasia	1/8	OMIM:615704
374393	FAM111B	HP:0003577	Congenital onset	8/8	OMIM:615704
374393	FAM111B	HP:0002240	Hepatomegaly	1/7	OMIM:615704
374393	FAM111B	HP:0002206	Pulmonary fibrosis	2/2	OMIM:615704
374393	FAM111B	HP:0001055	Erysipelas	2/8	OMIM:615704
374393	FAM111B	HP:0001029	Poikiloderma	8/8	OMIM:615704
374393	FAM111B	HP:0000653	Sparse eyelashes	4/8	OMIM:615704
374393	FAM111B	HP:0000823	Delayed puberty	2/2	OMIM:615704
374393	FAM111B	HP:0003236	Elevated circulating creatine kinase concentration	3/3	OMIM:615704
374393	FAM111B	HP:0003202	Skeletal muscle atrophy	4/4	OMIM:615704
374393	FAM111B	HP:0034392	Joint contracture	5/6	OMIM:615704
374393	FAM111B	HP:0045075	Sparse eyebrow	8/8	OMIM:615704
374393	FAM111B	HP:0000966	Hypohidrosis	7/7	OMIM:615704
374393	FAM111B	HP:0001596	Alopecia	8/8	OMIM:615704
374393	FAM111B	HP:0001510	Growth delay	2/8	OMIM:615704
374393	FAM111B	HP:0000518	Cataract	1/8	OMIM:615704
374407	DNAJB13	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
374407	DNAJB13	HP:0001217	Clubbing	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0000007	Autosomal recessive inheritance	-	OMIM:617091
374407	DNAJB13	HP:0002643	Neonatal respiratory distress	1/3	OMIM:617091
374407	DNAJB13	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
374407	DNAJB13	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0031245	Productive cough	HP:0040282	ORPHA:244
374407	DNAJB13	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
374407	DNAJB13	HP:0033158	Reduced respiratory ciliary beating frequency	2/2	OMIM:617091
374407	DNAJB13	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
374407	DNAJB13	HP:0002110	Bronchiectasis	3/3	OMIM:617091
374407	DNAJB13	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0008222	Female infertility	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0002257	Chronic rhinitis	3/3	OMIM:617091
374407	DNAJB13	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
374407	DNAJB13	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
374407	DNAJB13	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
374407	DNAJB13	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
374407	DNAJB13	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
374407	DNAJB13	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
374407	DNAJB13	HP:0030828	Wheezing	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0003251	Male infertility	1/1	OMIM:617091
374407	DNAJB13	HP:0003251	Male infertility	HP:0040282	ORPHA:244
374407	DNAJB13	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0033036	Decreased nasal nitric oxide	3/3	OMIM:617091
374407	DNAJB13	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
374407	DNAJB13	HP:0012264	Absent central microtubular pair morphology of respiratory motile cilia	-	OMIM:617091
374407	DNAJB13	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
374407	DNAJB13	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
374407	DNAJB13	HP:0012208	Immotile sperm	1/1	OMIM:617091
374407	DNAJB13	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
374407	DNAJB13	HP:0002837	Recurrent bronchitis	2/3	OMIM:617091
374407	DNAJB13	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
374407	DNAJB13	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
374407	DNAJB13	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
374407	DNAJB13	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
374407	DNAJB13	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
374407	DNAJB13	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
374407	DNAJB13	HP:0011108	Recurrent sinusitis	3/3	OMIM:617091
374407	DNAJB13	HP:0001746	Asplenia	HP:0040284	ORPHA:244
374407	DNAJB13	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
374407	DNAJB13	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
374407	DNAJB13	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
374407	DNAJB13	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
374407	DNAJB13	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
374462	PTPRQ	HP:0001270	Motor delay	-	OMIM:613391
374462	PTPRQ	HP:0000007	Autosomal recessive inheritance	-	OMIM:613391
374462	PTPRQ	HP:0000006	Autosomal dominant inheritance	-	OMIM:617663
374462	PTPRQ	HP:0003593	Infantile onset	-	OMIM:613391
374462	PTPRQ	HP:0003621	Juvenile onset	6/7	OMIM:617663
374462	PTPRQ	HP:0011463	Childhood onset	1/7	OMIM:617663
374462	PTPRQ	HP:0000365	Hearing impairment	-	OMIM:613391
374462	PTPRQ	HP:0000407	Sensorineural hearing impairment	7/7	OMIM:617663
374462	PTPRQ	HP:0001751	Abnormal vestibular function	-	OMIM:613391
374654	KIF7	HP:0001177	Preaxial hand polydactyly	HP:0040281	OMIM:200990
374654	KIF7	HP:0001182	Tapered finger	HP:0040283	OMIM:200990
374654	KIF7	HP:0001182	Tapered finger	5/5	OMIM:607131
374654	KIF7	HP:0001156	Brachydactyly	-	OMIM:200990
374654	KIF7	HP:0001156	Brachydactyly	HP:0040282	ORPHA:2754
374654	KIF7	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:36
374654	KIF7	HP:0001162	Postaxial hand polydactyly	HP:0040281	OMIM:200990
374654	KIF7	HP:0001162	Postaxial hand polydactyly	3/4	OMIM:614120
374654	KIF7	HP:0001162	Postaxial hand polydactyly	HP:0040281	ORPHA:2189
374654	KIF7	HP:0001161	Hand polydactyly	HP:0040283	ORPHA:2754
374654	KIF7	HP:0001159	Syndactyly	HP:0040282	ORPHA:2754
374654	KIF7	HP:0002444	Hypothalamic hamartoma	HP:0040283	ORPHA:2754
374654	KIF7	HP:0003781	Excessive salivation	1/59	OMIM:200990
374654	KIF7	HP:0009942	Duplication of thumb phalanx	HP:0040281	OMIM:200990
374654	KIF7	HP:0001199	Triphalangeal thumb	HP:0040282	ORPHA:36
374654	KIF7	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:36
374654	KIF7	HP:0010864	Intellectual disability, severe	-	OMIM:200990
374654	KIF7	HP:0002419	Molar tooth sign on MRI	1/1	OMIM:614120
374654	KIF7	HP:0002419	Molar tooth sign on MRI	HP:0040282	ORPHA:2754
374654	KIF7	HP:0002419	Molar tooth sign on MRI	5/5	OMIM:607131
374654	KIF7	HP:0002419	Molar tooth sign on MRI	HP:0040281	ORPHA:166024
374654	KIF7	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
374654	KIF7	HP:0001293	Cranial nerve compression	-	OMIM:131300
374654	KIF7	HP:0001290	Generalized hypotonia	20/23	OMIM:200990
374654	KIF7	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:2754
374654	KIF7	HP:0001274	Agenesis of corpus callosum	-	OMIM:200990
374654	KIF7	HP:0001274	Agenesis of corpus callosum	-	OMIM:607131
374654	KIF7	HP:0001274	Agenesis of corpus callosum	-	OMIM:614120
374654	KIF7	HP:0001274	Agenesis of corpus callosum	HP:0040281	ORPHA:2189
374654	KIF7	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:166024
374654	KIF7	HP:0001270	Motor delay	-	OMIM:607131
374654	KIF7	HP:0001288	Gait disturbance	HP:0040282	ORPHA:2754
374654	KIF7	HP:0001250	Seizure	HP:0040283	ORPHA:2754
374654	KIF7	HP:0001250	Seizure	9/27	OMIM:200990
374654	KIF7	HP:0001252	Hypotonia	HP:0040282	ORPHA:2754
374654	KIF7	HP:0001252	Hypotonia	HP:0040282	OMIM:200990
374654	KIF7	HP:0001252	Hypotonia	2/7	OMIM:615777
374654	KIF7	HP:0001251	Ataxia	HP:0040282	ORPHA:2754
374654	KIF7	HP:0001249	Intellectual disability	HP:0040281	ORPHA:166024
374654	KIF7	HP:0001249	Intellectual disability	HP:0040282	ORPHA:2754
374654	KIF7	HP:0001249	Intellectual disability	23/25	OMIM:200990
374654	KIF7	HP:0001249	Intellectual disability	5/7	OMIM:615777
374654	KIF7	HP:0001263	Global developmental delay	HP:0040282	ORPHA:2754
374654	KIF7	HP:0001263	Global developmental delay	4/5	OMIM:607131
374654	KIF7	HP:0001263	Global developmental delay	-	OMIM:615777
374654	KIF7	HP:0006101	Finger syndactyly	HP:0040282	OMIM:200990
374654	KIF7	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040281	ORPHA:36
374654	KIF7	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040280	OMIM:200990
374654	KIF7	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:2754
374654	KIF7	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:36
374654	KIF7	HP:0008689	Bilateral cryptorchidism	HP:0040282	ORPHA:2754
374654	KIF7	HP:0031092	Spindle-shaped finger	HP:0040281	ORPHA:166024
374654	KIF7	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2754
374654	KIF7	HP:0002553	Highly arched eyebrow	HP:0040283	ORPHA:2754
374654	KIF7	HP:0002515	Waddling gait	54/102	OMIM:131300
374654	KIF7	HP:0000098	Tall stature	HP:0040283	ORPHA:36
374654	KIF7	HP:0000054	Micropenis	HP:0040283	OMIM:200990
374654	KIF7	HP:0001382	Joint hypermobility	-	OMIM:615777
374654	KIF7	HP:0000047	Hypospadias	HP:0040283	ORPHA:36
374654	KIF7	HP:0000047	Hypospadias	10/18	OMIM:200990
374654	KIF7	HP:0000023	Inguinal hernia	HP:0040283	ORPHA:36
374654	KIF7	HP:0000023	Inguinal hernia	HP:0040282	OMIM:200990
374654	KIF7	HP:0000023	Inguinal hernia	-	OMIM:607131
374654	KIF7	HP:0002694	Sclerosis of skull base	-	OMIM:131300
374654	KIF7	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:36
374654	KIF7	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:2189
374654	KIF7	HP:0000028	Cryptorchidism	HP:0040283	OMIM:200990
374654	KIF7	HP:0008897	Postnatal growth retardation	-	OMIM:200990
374654	KIF7	HP:0008897	Postnatal growth retardation	-	OMIM:615777
374654	KIF7	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:2754
374654	KIF7	HP:0006145	Central Y-shaped metacarpal	HP:0040283	ORPHA:2754
374654	KIF7	HP:0002663	Delayed epiphyseal ossification	HP:0040281	ORPHA:166024
374654	KIF7	HP:0001331	Absent septum pellucidum	HP:0040281	ORPHA:2189
374654	KIF7	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
374654	KIF7	HP:0002656	Epiphyseal dysplasia	5/5	OMIM:607131
374654	KIF7	HP:0001324	Muscle weakness	40/96	OMIM:131300
374654	KIF7	HP:0002654	Multiple epiphyseal dysplasia	-	OMIM:607131
374654	KIF7	HP:0002654	Multiple epiphyseal dysplasia	HP:0040281	ORPHA:166024
374654	KIF7	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
374654	KIF7	HP:0000007	Autosomal recessive inheritance	-	OMIM:200990
374654	KIF7	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
374654	KIF7	HP:0000007	Autosomal recessive inheritance	-	OMIM:607131
374654	KIF7	HP:0000007	Autosomal recessive inheritance	-	OMIM:614120
374654	KIF7	HP:0001337	Tremor	HP:0040283	ORPHA:2754
374654	KIF7	HP:0000006	Autosomal dominant inheritance	-	OMIM:153400
374654	KIF7	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
374654	KIF7	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:36
374654	KIF7	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283	ORPHA:2754
374654	KIF7	HP:0002650	Scoliosis	12/14	OMIM:131300
374654	KIF7	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
374654	KIF7	HP:0002619	Varicose veins	-	OMIM:153400
374654	KIF7	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
374654	KIF7	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
374654	KIF7	HP:0000180	Lobulated tongue	HP:0040282	ORPHA:2754
374654	KIF7	HP:0000199	Tongue nodules	HP:0040282	ORPHA:2754
374654	KIF7	HP:0000194	Open mouth	9/59	OMIM:200990
374654	KIF7	HP:0000193	Bifid uvula	2/59	OMIM:200990
374654	KIF7	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
374654	KIF7	HP:0000193	Bifid uvula	HP:0040282	ORPHA:2189
374654	KIF7	HP:0000190	Abnormal oral frenulum morphology	1/59	OMIM:200990
374654	KIF7	HP:0000190	Abnormal oral frenulum morphology	HP:0040282	ORPHA:2754
374654	KIF7	HP:0000160	Narrow mouth	2/59	OMIM:200990
374654	KIF7	HP:0000176	Submucous cleft hard palate	HP:0040282	ORPHA:2189
374654	KIF7	HP:0000175	Cleft palate	HP:0040282	ORPHA:2189
374654	KIF7	HP:0000175	Cleft palate	12/59	OMIM:200990
374654	KIF7	HP:0000175	Cleft palate	5/39	OMIM:153400
374654	KIF7	HP:0000175	Cleft palate	2/7	OMIM:615777
374654	KIF7	HP:0000175	Cleft palate	2/4	OMIM:614120
374654	KIF7	HP:0000175	Cleft palate	HP:0040282	ORPHA:2754
374654	KIF7	HP:0000143	Rectovaginal fistula	-	OMIM:200990
374654	KIF7	HP:0000154	Wide mouth	2/59	OMIM:200990
374654	KIF7	HP:0006329	Alveolar process hypoplasia	1/59	OMIM:200990
374654	KIF7	HP:0006335	Persistence of primary teeth	2/59	OMIM:200990
374654	KIF7	HP:0000104	Renal agenesis	HP:0040283	ORPHA:2754
374654	KIF7	HP:0002714	Downturned corners of mouth	5/59	OMIM:200990
374654	KIF7	HP:0002023	Anal atresia	-	OMIM:200990
374654	KIF7	HP:0002007	Frontal bossing	HP:0040281	ORPHA:166024
374654	KIF7	HP:0002007	Frontal bossing	23/26	OMIM:200990
374654	KIF7	HP:0002007	Frontal bossing	5/5	OMIM:607131
374654	KIF7	HP:0002007	Frontal bossing	HP:0040282	ORPHA:2754
374654	KIF7	HP:0011802	Hamartoma of tongue	HP:0040282	ORPHA:2754
374654	KIF7	HP:0002086	Abnormality of the respiratory system	HP:0040282	ORPHA:2189
374654	KIF7	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:166024
374654	KIF7	HP:0002079	Hypoplasia of the corpus callosum	3/4	OMIM:607131
374654	KIF7	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:166024
374654	KIF7	HP:0003388	Easy fatigability	36/76	OMIM:131300
374654	KIF7	HP:0010442	Polydactyly	0/5	OMIM:607131
374654	KIF7	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
374654	KIF7	HP:0002139	Arrhinencephaly	HP:0040283	ORPHA:2189
374654	KIF7	HP:0003468	Abnormal vertebral morphology	HP:0040284	ORPHA:166024
374654	KIF7	HP:0002119	Ventriculomegaly	-	OMIM:614120
374654	KIF7	HP:0002104	Apnea	HP:0040283	ORPHA:2754
374654	KIF7	HP:0009611	Bifid distal phalanx of the thumb	-	OMIM:200990
374654	KIF7	HP:0010576	Intracranial cystic lesion	10/27	OMIM:200990
374654	KIF7	HP:0002263	Exaggerated cupid's bow	3/59	OMIM:200990
374654	KIF7	HP:0002269	Abnormality of neuronal migration	HP:0040283	ORPHA:2754
374654	KIF7	HP:0003577	Congenital onset	5/5	OMIM:607131
374654	KIF7	HP:0003550	Predominantly lower limb lymphedema	-	OMIM:153400
374654	KIF7	HP:0009743	Distichiasis	42/42	OMIM:153400
374654	KIF7	HP:0007036	Hypoplasia of olfactory tract	HP:0040282	ORPHA:2754
374654	KIF7	HP:0003510	Severe short stature	7/7	OMIM:615777
374654	KIF7	HP:0001004	Lymphedema	2/5	OMIM:607131
374654	KIF7	HP:0001004	Lymphedema	-	OMIM:153400
374654	KIF7	HP:0002323	Anencephaly	2/4	OMIM:614120
374654	KIF7	HP:0002323	Anencephaly	HP:0040283	ORPHA:2189
374654	KIF7	HP:0002315	Headache	-	OMIM:131300
374654	KIF7	HP:0004976	Knee dislocation	6/7	OMIM:615777
374654	KIF7	HP:0100658	Cellulitis	2/6	OMIM:153400
374654	KIF7	HP:0100682	Tracheal atresia	HP:0040282	ORPHA:2189
374654	KIF7	HP:0010803	Everted upper lip vermilion	3/59	OMIM:200990
374654	KIF7	HP:0010808	Protruding tongue	2/59	OMIM:200990
374654	KIF7	HP:0009803	Short phalanx of finger	-	OMIM:615777
374654	KIF7	HP:0009763	Limb pain	63/92	OMIM:131300
374654	KIF7	HP:0003621	Juvenile onset	-	OMIM:131300
374654	KIF7	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
374654	KIF7	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:200990
374654	KIF7	HP:0009084	Midline notch of upper alveolar ridge	HP:0040283	ORPHA:2754
374654	KIF7	HP:0010066	Duplication of phalanx of hallux	HP:0040281	OMIM:200990
374654	KIF7	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
374654	KIF7	HP:0000639	Nystagmus	HP:0040282	ORPHA:2754
374654	KIF7	HP:0000639	Nystagmus	HP:0040283	OMIM:200990
374654	KIF7	HP:6001056	Out-toeing	-	OMIM:131300
374654	KIF7	HP:0000651	Diplopia	-	OMIM:131300
374654	KIF7	HP:0000648	Optic atrophy	HP:0040283	OMIM:200990
374654	KIF7	HP:0000613	Photophobia	10/49	OMIM:153400
374654	KIF7	HP:0001956	Truncal obesity	2/7	OMIM:615777
374654	KIF7	HP:0001903	Anemia	HP:0040283	OMIM:131300
374654	KIF7	HP:0010049	Short metacarpal	-	OMIM:615777
374654	KIF7	HP:0011367	Yellow nails	HP:0040284	OMIM:153400
374654	KIF7	HP:0000678	Dental crowding	-	OMIM:615777
374654	KIF7	HP:0000685	Hypoplasia of teeth	1/59	OMIM:200990
374654	KIF7	HP:0000656	Ectropion	2/43	OMIM:153400
374654	KIF7	HP:0000670	Carious teeth	-	OMIM:131300
374654	KIF7	HP:0011304	Broad thumb	2/7	OMIM:615777
374654	KIF7	HP:0000668	Hypodontia	-	OMIM:615777
374654	KIF7	HP:0001999	Abnormal facial shape	-	OMIM:607131
374654	KIF7	HP:0000664	Synophrys	-	OMIM:615777
374654	KIF7	HP:0004322	Short stature	HP:0040282	ORPHA:166024
374654	KIF7	HP:0004322	Short stature	HP:0040282	ORPHA:2754
374654	KIF7	HP:0030680	Abnormal cardiovascular system morphology	5/22	OMIM:200990
374654	KIF7	HP:0030680	Abnormal cardiovascular system morphology	HP:0040282	ORPHA:2189
374654	KIF7	HP:0030690	Gingival cleft	HP:0040282	ORPHA:2189
374654	KIF7	HP:0003071	Flattened epiphysis	5/5	OMIM:607131
374654	KIF7	HP:0004396	Poor appetite	-	OMIM:131300
374654	KIF7	HP:0003037	Enlarged joints	5/5	OMIM:607131
374654	KIF7	HP:0003037	Enlarged joints	HP:0040281	ORPHA:166024
374654	KIF7	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
374654	KIF7	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
374654	KIF7	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
374654	KIF7	HP:0003011	Abnormality of the musculature	-	OMIM:153400
374654	KIF7	HP:0003026	Short long bone	7/7	OMIM:615777
374654	KIF7	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
374654	KIF7	HP:0000767	Pectus excavatum	HP:0040281	ORPHA:166024
374654	KIF7	HP:0000767	Pectus excavatum	5/5	OMIM:607131
374654	KIF7	HP:0000767	Pectus excavatum	2/7	OMIM:615777
374654	KIF7	HP:0000768	Pectus carinatum	-	OMIM:607131
374654	KIF7	HP:0000768	Pectus carinatum	1/7	OMIM:615777
374654	KIF7	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
374654	KIF7	HP:0012725	Cutaneous syndactyly	HP:0040283	ORPHA:166024
374654	KIF7	HP:0000750	Delayed speech and language development	-	OMIM:615777
374654	KIF7	HP:0011461	Fetal onset	7/7	OMIM:615777
374654	KIF7	HP:0011461	Fetal onset	4/4	OMIM:614120
374654	KIF7	HP:0000774	Narrow chest	2/7	OMIM:615777
374654	KIF7	HP:0000776	Congenital diaphragmatic hernia	HP:0040283	ORPHA:36
374654	KIF7	HP:0004422	Biparietal narrowing	HP:0040282	ORPHA:2754
374654	KIF7	HP:0004408	Abnormality of the sense of smell	HP:0040282	ORPHA:2189
374654	KIF7	HP:0003196	Short nose	HP:0040282	OMIM:200990
374654	KIF7	HP:0000924	Abnormality of the skeletal system	HP:0040281	ORPHA:166024
374654	KIF7	HP:0000926	Platyspondyly	1/7	OMIM:615777
374654	KIF7	HP:0003180	Flat acetabular roof	-	OMIM:615777
374654	KIF7	HP:0004482	Relative macrocephaly	-	OMIM:615777
374654	KIF7	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
374654	KIF7	HP:0000889	Abnormal clavicle morphology	HP:0040283	ORPHA:36
374654	KIF7	HP:0100333	Unilateral cleft lip	HP:0040282	ORPHA:2189
374654	KIF7	HP:0012804	Corneal ulceration	-	OMIM:153400
374654	KIF7	HP:0000823	Delayed puberty	-	OMIM:131300
374654	KIF7	HP:0010291	Prominent palatine ridges	1/59	OMIM:200990
374654	KIF7	HP:0040019	Finger clinodactyly	HP:0040282	ORPHA:2754
374654	KIF7	HP:0000894	Short clavicles	-	OMIM:615777
374654	KIF7	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
374654	KIF7	HP:0100260	Mesoaxial polydactyly	HP:0040283	ORPHA:2754
374654	KIF7	HP:0010310	Chylothorax	1/6	OMIM:153400
374654	KIF7	HP:0100258	Preaxial polydactyly	HP:0040282	ORPHA:2754
374654	KIF7	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
374654	KIF7	HP:0011675	Arrhythmia	-	OMIM:153400
374654	KIF7	HP:0000286	Epicanthus	HP:0040282	ORPHA:2754
374654	KIF7	HP:0000286	Epicanthus	HP:0040282	OMIM:200990
374654	KIF7	HP:0000286	Epicanthus	1/7	OMIM:615777
374654	KIF7	HP:0000280	Coarse facial features	2/7	OMIM:615777
374654	KIF7	HP:0000278	Retrognathia	HP:0040281	ORPHA:2189
374654	KIF7	HP:0000260	Wide anterior fontanel	HP:0040283	ORPHA:36
374654	KIF7	HP:0000260	Wide anterior fontanel	HP:0040282	OMIM:200990
374654	KIF7	HP:0000256	Macrocephaly	HP:0040281	ORPHA:36
374654	KIF7	HP:0000256	Macrocephaly	HP:0040281	ORPHA:166024
374654	KIF7	HP:0000256	Macrocephaly	25/27	OMIM:200990
374654	KIF7	HP:0000256	Macrocephaly	5/5	OMIM:607131
374654	KIF7	HP:0000276	Long face	HP:0040282	ORPHA:2754
374654	KIF7	HP:0000272	Malar flattening	5/5	OMIM:607131
374654	KIF7	HP:0000269	Prominent occiput	HP:0040282	ORPHA:36
374654	KIF7	HP:0000269	Prominent occiput	-	OMIM:200990
374654	KIF7	HP:0005148	Pulmonary valve defects	-	OMIM:200990
374654	KIF7	HP:0002829	Arthralgia	HP:0040282	ORPHA:166024
374654	KIF7	HP:0002827	Hip dislocation	3/7	OMIM:615777
374654	KIF7	HP:0030084	Clinodactyly	5/5	OMIM:607131
374654	KIF7	HP:0030084	Clinodactyly	HP:0040281	ORPHA:166024
374654	KIF7	HP:0002808	Kyphosis	2/5	OMIM:153400
374654	KIF7	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:2189
374654	KIF7	HP:0000238	Hydrocephalus	2/4	OMIM:614120
374654	KIF7	HP:0000252	Microcephaly	-	OMIM:615777
374654	KIF7	HP:0000218	High palate	HP:0040282	ORPHA:2754
374654	KIF7	HP:0000218	High palate	18/59	OMIM:200990
374654	KIF7	HP:0002876	Episodic tachypnea	HP:0040283	ORPHA:2754
374654	KIF7	HP:0000212	Gingival overgrowth	1/59	OMIM:200990
374654	KIF7	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:2189
374654	KIF7	HP:0000233	Thin vermilion border	5/59	OMIM:200990
374654	KIF7	HP:0002857	Genu valgum	-	OMIM:131300
374654	KIF7	HP:0002857	Genu valgum	5/5	OMIM:607131
374654	KIF7	HP:0002857	Genu valgum	HP:0040281	ORPHA:166024
374654	KIF7	HP:0001537	Umbilical hernia	HP:0040282	OMIM:200990
374654	KIF7	HP:0000207	Triangular mouth	-	OMIM:200990
374654	KIF7	HP:0000207	Triangular mouth	4/5	OMIM:607131
374654	KIF7	HP:0000207	Triangular mouth	HP:0040281	ORPHA:166024
374654	KIF7	HP:0001533	Slender build	-	OMIM:131300
374654	KIF7	HP:0000204	Cleft upper lip	12/59	OMIM:200990
374654	KIF7	HP:0000204	Cleft upper lip	-	OMIM:153400
374654	KIF7	HP:0001508	Failure to thrive	HP:0040282	ORPHA:2754
374654	KIF7	HP:0001508	Failure to thrive	HP:0040282	OMIM:200990
374654	KIF7	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
374654	KIF7	HP:0001510	Growth delay	HP:0040282	OMIM:200990
374654	KIF7	HP:0001510	Growth delay	HP:0040282	ORPHA:2754
374654	KIF7	HP:0007807	Optic nerve compression	-	OMIM:131300
374654	KIF7	HP:0000384	Preauricular skin tag	HP:0040282	OMIM:200990
374654	KIF7	HP:0012368	Flat face	7/7	OMIM:615777
374654	KIF7	HP:0000377	Abnormal pinna morphology	19/23	OMIM:200990
374654	KIF7	HP:0011027	Abnormal fallopian tube morphology	HP:0040283	ORPHA:2189
374654	KIF7	HP:0007894	Hypopigmentation of the fundus	-	OMIM:200990
374654	KIF7	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
374654	KIF7	HP:0001601	Laryngomalacia	HP:0040282	ORPHA:2189
374654	KIF7	HP:0000365	Hearing impairment	HP:0040283	OMIM:200990
374654	KIF7	HP:0000365	Hearing impairment	10/67	OMIM:131300
374654	KIF7	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2189
374654	KIF7	HP:0000358	Posteriorly rotated ears	HP:0040283	OMIM:200990
374654	KIF7	HP:0000358	Posteriorly rotated ears	HP:0040282	ORPHA:2754
374654	KIF7	HP:0000369	Low-set ears	HP:0040282	ORPHA:2189
374654	KIF7	HP:0000369	Low-set ears	-	OMIM:200990
374654	KIF7	HP:0000369	Low-set ears	5/5	OMIM:607131
374654	KIF7	HP:0001671	Abnormal cardiac septum morphology	-	OMIM:200990
374654	KIF7	HP:0000340	Sloping forehead	HP:0040282	ORPHA:36
374654	KIF7	HP:0000343	Long philtrum	5/59	OMIM:200990
374654	KIF7	HP:0000343	Long philtrum	1/7	OMIM:615777
374654	KIF7	HP:0011001	Increased bone mineral density	-	OMIM:131300
374654	KIF7	HP:0000337	Broad forehead	HP:0040282	OMIM:200990
374654	KIF7	HP:0000347	Micrognathia	2/5	OMIM:153400
374654	KIF7	HP:0000347	Micrognathia	1/4	OMIM:614120
374654	KIF7	HP:0000347	Micrognathia	HP:0040282	ORPHA:2754
374654	KIF7	HP:0000347	Micrognathia	HP:0040281	ORPHA:2189
374654	KIF7	HP:0002983	Micromelia	HP:0040283	ORPHA:2189
374654	KIF7	HP:0000319	Smooth philtrum	1/59	OMIM:200990
374654	KIF7	HP:0000316	Hypertelorism	HP:0040281	ORPHA:36
374654	KIF7	HP:0000316	Hypertelorism	HP:0040281	ORPHA:166024
374654	KIF7	HP:0000316	Hypertelorism	HP:0040282	ORPHA:2754
374654	KIF7	HP:0000316	Hypertelorism	24/26	OMIM:200990
374654	KIF7	HP:0000316	Hypertelorism	4/4	OMIM:607131
374654	KIF7	HP:0001643	Patent ductus arteriosus	-	OMIM:153400
374654	KIF7	HP:0000311	Round face	2/7	OMIM:615777
374654	KIF7	HP:0000322	Short philtrum	18/59	OMIM:200990
374654	KIF7	HP:0001629	Ventricular septal defect	1/6	OMIM:153400
374654	KIF7	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:2754
374654	KIF7	HP:0001622	Premature birth	HP:0040281	ORPHA:2189
374654	KIF7	HP:0001641	Abnormal pulmonary valve morphology	-	OMIM:200990
374654	KIF7	HP:0002970	Genu varum	-	OMIM:615777
374654	KIF7	HP:0000308	Microretrognathia	8/59	OMIM:200990
374654	KIF7	HP:0001636	Tetralogy of Fallot	3/39	OMIM:153400
374654	KIF7	HP:0000303	Mandibular prognathia	1/59	OMIM:200990
374654	KIF7	HP:0000303	Mandibular prognathia	-	OMIM:131300
374654	KIF7	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:36
374654	KIF7	HP:0000405	Conductive hearing impairment	HP:0040282	ORPHA:2754
374654	KIF7	HP:0005280	Depressed nasal bridge	5/5	OMIM:607131
374654	KIF7	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
374654	KIF7	HP:0000486	Strabismus	HP:0040283	OMIM:200990
374654	KIF7	HP:0012471	Thick vermilion border	4/59	OMIM:200990
374654	KIF7	HP:0000476	Cystic hygroma	2/43	OMIM:153400
374654	KIF7	HP:0000495	Recurrent corneal erosions	-	OMIM:153400
374654	KIF7	HP:0000494	Downslanted palpebral fissures	HP:0040282	OMIM:200990
374654	KIF7	HP:0000490	Deeply set eye	HP:0040282	ORPHA:2189
374654	KIF7	HP:0001790	Nonimmune hydrops fetalis	2/43	OMIM:153400
374654	KIF7	HP:0012444	Brain atrophy	-	OMIM:607131
374654	KIF7	HP:0000455	Broad nasal tip	HP:0040282	ORPHA:2754
374654	KIF7	HP:0000470	Short neck	5/5	OMIM:607131
374654	KIF7	HP:0000470	Short neck	1/7	OMIM:615777
374654	KIF7	HP:0000465	Webbed neck	6/43	OMIM:153400
374654	KIF7	HP:0001770	Toe syndactyly	HP:0040282	OMIM:200990
374654	KIF7	HP:0001769	Broad foot	HP:0040283	OMIM:615777
374654	KIF7	HP:0001763	Pes planus	1/7	OMIM:615777
374654	KIF7	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:166024
374654	KIF7	HP:0000431	Wide nasal bridge	24/26	OMIM:200990
374654	KIF7	HP:0000431	Wide nasal bridge	5/5	OMIM:607131
374654	KIF7	HP:0000426	Prominent nasal bridge	HP:0040283	ORPHA:2754
374654	KIF7	HP:0001841	Preaxial foot polydactyly	3/4	OMIM:614120
374654	KIF7	HP:0001841	Preaxial foot polydactyly	HP:0040281	OMIM:200990
374654	KIF7	HP:0001840	Metatarsus adductus	-	OMIM:615777
374654	KIF7	HP:0000528	Anophthalmia	HP:0040283	ORPHA:2189
374654	KIF7	HP:0000520	Proptosis	2/4	OMIM:131300
374654	KIF7	HP:0000520	Proptosis	7/7	OMIM:615777
374654	KIF7	HP:0001829	Foot polydactyly	HP:0040283	ORPHA:2754
374654	KIF7	HP:0000509	Conjunctivitis	-	OMIM:153400
374654	KIF7	HP:0000508	Ptosis	2/39	OMIM:153400
374654	KIF7	HP:0001830	Postaxial foot polydactyly	HP:0040281	OMIM:200990
374654	KIF7	HP:0001830	Postaxial foot polydactyly	2/4	OMIM:614120
374654	KIF7	HP:0000592	Blue sclerae	2/7	OMIM:615777
374654	KIF7	HP:0000589	Coloboma	HP:0040283	OMIM:200990
374654	KIF7	HP:0011220	Prominent forehead	-	OMIM:200990
374654	KIF7	HP:0000568	Microphthalmia	1/6	OMIM:153400
374654	KIF7	HP:0000568	Microphthalmia	HP:0040283	ORPHA:2189
374654	KIF7	HP:0000565	Esotropia	HP:0040282	ORPHA:2754
374654	KIF7	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
374654	KIF7	HP:0012514	Lower limb pain	4/4	OMIM:131300
374879	ZNF699	HP:0001177	Preaxial hand polydactyly	1/13	OMIM:619488
374879	ZNF699	HP:0100957	Abnormal renal medulla morphology	1/13	OMIM:619488
374879	ZNF699	HP:0001159	Syndactyly	4/13	OMIM:619488
374879	ZNF699	HP:0010943	Echogenic fetal bowel	1/13	OMIM:619488
374879	ZNF699	HP:0001195	Single umbilical artery	2/13	OMIM:619488
374879	ZNF699	HP:0001274	Agenesis of corpus callosum	2/13	OMIM:619488
374879	ZNF699	HP:0001252	Hypotonia	6/13	OMIM:619488
374879	ZNF699	HP:0001249	Intellectual disability	6/13	OMIM:619488
374879	ZNF699	HP:0001263	Global developmental delay	6/13	OMIM:619488
374879	ZNF699	HP:0000089	Renal hypoplasia	1/13	OMIM:619488
374879	ZNF699	HP:0001396	Cholestasis	1/13	OMIM:619488
374879	ZNF699	HP:0000062	Ambiguous genitalia	2/13	OMIM:619488
374879	ZNF699	HP:0000041	Chordee	1/13	OMIM:619488
374879	ZNF699	HP:0000047	Hypospadias	1/13	OMIM:619488
374879	ZNF699	HP:0001363	Craniosynostosis	1/13	OMIM:619488
374879	ZNF699	HP:0001357	Plagiocephaly	1/13	OMIM:619488
374879	ZNF699	HP:0000028	Cryptorchidism	3/13	OMIM:619488
374879	ZNF699	HP:0000010	Recurrent urinary tract infections	1/13	OMIM:619488
374879	ZNF699	HP:0000007	Autosomal recessive inheritance	-	OMIM:619488
374879	ZNF699	HP:0000154	Wide mouth	1/13	OMIM:619488
374879	ZNF699	HP:0025429	Abnormal cry	1/13	OMIM:619488
374879	ZNF699	HP:0002780	Bronchomalacia	1/13	OMIM:619488
374879	ZNF699	HP:0002779	Tracheomalacia	2/13	OMIM:619488
374879	ZNF699	HP:0025408	Abnormal spleen morphology	1/13	OMIM:619488
374879	ZNF699	HP:0001433	Hepatosplenomegaly	1/13	OMIM:619488
374879	ZNF699	HP:0002750	Delayed skeletal maturation	1/13	OMIM:619488
374879	ZNF699	HP:0002719	Recurrent infections	3/13	OMIM:619488
374879	ZNF699	HP:0002721	Immunodeficiency	2/13	OMIM:619488
374879	ZNF699	HP:0002021	Pyloric stenosis	1/13	OMIM:619488
374879	ZNF699	HP:0002020	Gastroesophageal reflux	1/13	OMIM:619488
374879	ZNF699	HP:0002036	Hiatus hernia	1/13	OMIM:619488
374879	ZNF699	HP:0002033	Poor suck	1/13	OMIM:619488
374879	ZNF699	HP:0002099	Asthma	1/13	OMIM:619488
374879	ZNF699	HP:0002092	Pulmonary arterial hypertension	1/13	OMIM:619488
374879	ZNF699	HP:0002090	Pneumonia	1/13	OMIM:619488
374879	ZNF699	HP:0100507	Reduced blood folate concentration	1/13	OMIM:619488
374879	ZNF699	HP:0010442	Polydactyly	1/13	OMIM:619488
374879	ZNF699	HP:0040288	Nasogastric tube feeding	2/13	OMIM:619488
374879	ZNF699	HP:0002119	Ventriculomegaly	1/13	OMIM:619488
374879	ZNF699	HP:0002162	Low posterior hairline	1/13	OMIM:619488
374879	ZNF699	HP:0002240	Hepatomegaly	1/13	OMIM:619488
374879	ZNF699	HP:0002216	Premature graying of hair	1/13	OMIM:619488
374879	ZNF699	HP:0200136	Oral-pharyngeal dysphagia	1/13	OMIM:619488
374879	ZNF699	HP:0011968	Feeding difficulties	3/13	OMIM:619488
374879	ZNF699	HP:0004810	Congenital hypoplastic anemia	2/13	OMIM:619488
374879	ZNF699	HP:0002376	Developmental regression	1/13	OMIM:619488
374879	ZNF699	HP:0001010	Hypopigmentation of the skin	2/13	OMIM:619488
374879	ZNF699	HP:0001000	Abnormality of skin pigmentation	2/13	OMIM:619488
374879	ZNF699	HP:0010808	Protruding tongue	1/13	OMIM:619488
374879	ZNF699	HP:0200053	Hemihypotrophy of lower limb	1/13	OMIM:619488
374879	ZNF699	HP:0009778	Short thumb	1/13	OMIM:619488
374879	ZNF699	HP:0005599	Hypopigmentation of hair	2/13	OMIM:619488
374879	ZNF699	HP:0012622	Chronic kidney disease	2/13	OMIM:619488
374879	ZNF699	HP:0000639	Nystagmus	1/13	OMIM:619488
374879	ZNF699	HP:0001945	Fever	2/13	OMIM:619488
374879	ZNF699	HP:0000601	Hypotelorism	2/13	OMIM:619488
374879	ZNF699	HP:0001903	Anemia	4/13	OMIM:619488
374879	ZNF699	HP:0001999	Abnormal facial shape	11/13	OMIM:619488
374879	ZNF699	HP:0000664	Synophrys	1/13	OMIM:619488
374879	ZNF699	HP:0009110	Diaphragmatic eventration	1/13	OMIM:619488
374879	ZNF699	HP:0040119	Unilateral conductive hearing impairment	1/13	OMIM:619488
374879	ZNF699	HP:0003196	Short nose	2/13	OMIM:619488
374879	ZNF699	HP:0030842	Choking episodes	1/13	OMIM:619488
374879	ZNF699	HP:0000998	Hypertrichosis	1/13	OMIM:619488
374879	ZNF699	HP:0000980	Pallor	1/13	OMIM:619488
374879	ZNF699	HP:0000960	Sacral dimple	1/13	OMIM:619488
374879	ZNF699	HP:0000938	Osteopenia	1/13	OMIM:619488
374879	ZNF699	HP:0000280	Coarse facial features	3/13	OMIM:619488
374879	ZNF699	HP:0000278	Retrognathia	1/13	OMIM:619488
374879	ZNF699	HP:0000294	Low anterior hairline	1/13	OMIM:619488
374879	ZNF699	HP:0000252	Microcephaly	6/13	OMIM:619488
374879	ZNF699	HP:0000218	High palate	2/13	OMIM:619488
374879	ZNF699	HP:0001561	Polyhydramnios	1/13	OMIM:619488
374879	ZNF699	HP:0001528	Hemihypertrophy	1/13	OMIM:619488
374879	ZNF699	HP:0002857	Genu valgum	1/13	OMIM:619488
374879	ZNF699	HP:0001508	Failure to thrive	6/13	OMIM:619488
374879	ZNF699	HP:0001518	Small for gestational age	1/13	OMIM:619488
374879	ZNF699	HP:0001511	Intrauterine growth retardation	3/13	OMIM:619488
374879	ZNF699	HP:0012384	Rhinitis	1/13	OMIM:619488
374879	ZNF699	HP:0011035	Abnormal renal cortex morphology	1/13	OMIM:619488
374879	ZNF699	HP:0005235	Jejunal atresia	4/13	OMIM:619488
374879	ZNF699	HP:0006528	Chronic lung disease	1/13	OMIM:619488
374879	ZNF699	HP:0001605	Vocal cord paralysis	1/13	OMIM:619488
374879	ZNF699	HP:0001601	Laryngomalacia	1/13	OMIM:619488
374879	ZNF699	HP:0002904	Hyperbilirubinemia	1/13	OMIM:619488
374879	ZNF699	HP:0005164	Dysplastic pulmonary valve	1/13	OMIM:619488
374879	ZNF699	HP:0000365	Hearing impairment	1/13	OMIM:619488
374879	ZNF699	HP:0000358	Posteriorly rotated ears	1/13	OMIM:619488
374879	ZNF699	HP:0000369	Low-set ears	1/13	OMIM:619488
374879	ZNF699	HP:0000343	Long philtrum	2/13	OMIM:619488
374879	ZNF699	HP:0000347	Micrognathia	2/13	OMIM:619488
374879	ZNF699	HP:0000319	Smooth philtrum	3/13	OMIM:619488
374879	ZNF699	HP:0000316	Hypertelorism	1/13	OMIM:619488
374879	ZNF699	HP:0001649	Tachycardia	1/13	OMIM:619488
374879	ZNF699	HP:0001643	Patent ductus arteriosus	1/13	OMIM:619488
374879	ZNF699	HP:0001642	Pulmonic stenosis	3/13	OMIM:619488
374879	ZNF699	HP:0000325	Triangular face	1/13	OMIM:619488
374879	ZNF699	HP:0001655	Patent foramen ovale	1/13	OMIM:619488
374879	ZNF699	HP:0001629	Ventricular septal defect	1/13	OMIM:619488
374879	ZNF699	HP:0001623	Breech presentation	1/13	OMIM:619488
374879	ZNF699	HP:0001622	Premature birth	4/13	OMIM:619488
374879	ZNF699	HP:0001631	Atrial septal defect	2/13	OMIM:619488
374879	ZNF699	HP:0005301	Persistent left superior vena cava	1/13	OMIM:619488
374879	ZNF699	HP:0000499	Abnormal eyelash morphology	4/13	OMIM:619488
374879	ZNF699	HP:0000407	Sensorineural hearing impairment	2/13	OMIM:619488
374879	ZNF699	HP:0000400	Macrotia	2/13	OMIM:619488
374879	ZNF699	HP:0012471	Thick vermilion border	1/13	OMIM:619488
374879	ZNF699	HP:0000463	Anteverted nares	2/13	OMIM:619488
374879	ZNF699	HP:0012447	Abnormal myelination	1/13	OMIM:619488
374879	ZNF699	HP:0001770	Toe syndactyly	3/13	OMIM:619488
374879	ZNF699	HP:0011100	Intestinal atresia	4/13	OMIM:619488
374879	ZNF699	HP:0000448	Prominent nose	1/13	OMIM:619488
374879	ZNF699	HP:0001762	Talipes equinovarus	1/13	OMIM:619488
374879	ZNF699	HP:0000426	Prominent nasal bridge	2/13	OMIM:619488
374879	ZNF699	HP:0000512	Abnormal electroretinogram	1/13	OMIM:619488
374879	ZNF699	HP:0000527	Long eyelashes	2/13	OMIM:619488
374879	ZNF699	HP:0000520	Proptosis	1/13	OMIM:619488
374879	ZNF699	HP:0000508	Ptosis	1/13	OMIM:619488
374879	ZNF699	HP:0012584	Bilateral renal hypoplasia	1/13	OMIM:619488
374879	ZNF699	HP:0012582	Bilateral renal dysplasia	1/13	OMIM:619488
374879	ZNF699	HP:0001891	Iron deficiency anemia	1/13	OMIM:619488
374879	ZNF699	HP:0000568	Microphthalmia	1/13	OMIM:619488
374879	ZNF699	HP:0000534	Abnormal eyebrow morphology	3/13	OMIM:619488
374879	ZNF699	HP:0001882	Decreased total leukocyte count	1/13	OMIM:619488
374879	ZNF699	HP:0001876	Pancytopenia	2/13	OMIM:619488
374969	SVBP	HP:0001171	Split hand	2/8	OMIM:618569
374969	SVBP	HP:0001182	Tapered finger	1/8	OMIM:618569
374969	SVBP	HP:0001270	Motor delay	6/8	OMIM:618569
374969	SVBP	HP:0001250	Seizure	3/8	OMIM:618569
374969	SVBP	HP:0001249	Intellectual disability	8/8	OMIM:618569
374969	SVBP	HP:0001257	Spasticity	7/8	OMIM:618569
374969	SVBP	HP:0000007	Autosomal recessive inheritance	-	OMIM:618569
374969	SVBP	HP:0001335	Bimanual synkinesia	3/8	OMIM:618569
374969	SVBP	HP:0012168	Head-banging	1/8	OMIM:618569
374969	SVBP	HP:0008954	Intrinsic hand muscle atrophy	1/8	OMIM:618569
374969	SVBP	HP:0002079	Hypoplasia of the corpus callosum	2/6	OMIM:618569
374969	SVBP	HP:0002133	Status epilepticus	1/8	OMIM:618569
374969	SVBP	HP:0009778	Short thumb	1/8	OMIM:618569
374969	SVBP	HP:0010047	Short 5th metacarpal	2/8	OMIM:618569
374969	SVBP	HP:0011369	Mongolian blue spot	1/8	OMIM:618569
374969	SVBP	HP:0010041	Short 3rd metacarpal	1/8	OMIM:618569
374969	SVBP	HP:0010044	Short 4th metacarpal	1/8	OMIM:618569
374969	SVBP	HP:0011359	Dry hair	2/8	OMIM:618569
374969	SVBP	HP:0006989	Dysplastic corpus callosum	1/6	OMIM:618569
374969	SVBP	HP:0005643	Short 3rd toe	1/8	OMIM:618569
374969	SVBP	HP:0000750	Delayed speech and language development	8/8	OMIM:618569
374969	SVBP	HP:0000729	Autistic behavior	1/8	OMIM:618569
374969	SVBP	HP:0005768	2-4 toe cutaneous syndactyly	1/8	OMIM:618569
374969	SVBP	HP:0000821	Hypothyroidism	1/8	OMIM:618569
374969	SVBP	HP:0011623	Muscular ventricular septal defect	1/8	OMIM:618569
374969	SVBP	HP:0008093	Short 4th toe	1/8	OMIM:618569
374969	SVBP	HP:0000286	Epicanthus	1/8	OMIM:618569
374969	SVBP	HP:0000280	Coarse facial features	3/8	OMIM:618569
374969	SVBP	HP:0000294	Low anterior hairline	1/8	OMIM:618569
374969	SVBP	HP:0000252	Microcephaly	-	OMIM:618569
374969	SVBP	HP:0000384	Preauricular skin tag	1/8	OMIM:618569
374969	SVBP	HP:0000431	Wide nasal bridge	1/8	OMIM:618569
374969	SVBP	HP:0011220	Prominent forehead	1/8	OMIM:618569
375056	MIA3	HP:0001256	Intellectual disability, mild	-	OMIM:259770
375056	MIA3	HP:0001256	Intellectual disability, mild	4/4	OMIM:619269
375056	MIA3	HP:0001252	Hypotonia	-	OMIM:259770
375056	MIA3	HP:0001263	Global developmental delay	1/1	OMIM:612394
375056	MIA3	HP:0001382	Joint hypermobility	-	OMIM:259770
375056	MIA3	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
375056	MIA3	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
375056	MIA3	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
375056	MIA3	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
375056	MIA3	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
375056	MIA3	HP:0000007	Autosomal recessive inheritance	-	OMIM:619269
375056	MIA3	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
375056	MIA3	HP:0002650	Scoliosis	1/5	OMIM:259770
375056	MIA3	HP:0002650	Scoliosis	2/4	OMIM:619269
375056	MIA3	HP:0002650	Scoliosis	1/1	OMIM:612394
375056	MIA3	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
375056	MIA3	HP:0000126	Hydronephrosis	1/4	OMIM:619269
375056	MIA3	HP:0002757	Recurrent fractures	4/5	OMIM:259770
375056	MIA3	HP:0002756	Pathologic fracture	-	OMIM:259770
375056	MIA3	HP:0002756	Pathologic fracture	1/1	OMIM:612394
375056	MIA3	HP:0002751	Kyphoscoliosis	-	OMIM:259770
375056	MIA3	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
375056	MIA3	HP:0002099	Asthma	4/4	OMIM:619269
375056	MIA3	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
375056	MIA3	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
375056	MIA3	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
375056	MIA3	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
375056	MIA3	HP:0002164	Nail dysplasia	1/1	OMIM:612394
375056	MIA3	HP:0010557	Overlapping fingers	1/2	OMIM:612394
375056	MIA3	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
375056	MIA3	HP:0003593	Infantile onset	1/5	OMIM:259770
375056	MIA3	HP:0003593	Infantile onset	-	OMIM:619269
375056	MIA3	HP:0003577	Congenital onset	4/5	OMIM:259770
375056	MIA3	HP:0002208	Coarse hair	1/1	OMIM:612394
375056	MIA3	HP:0003508	Proportionate short stature	4/4	OMIM:619269
375056	MIA3	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
375056	MIA3	HP:0025019	Arterial rupture	1/1	OMIM:612394
375056	MIA3	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
375056	MIA3	HP:0100651	Type I diabetes mellitus	4/4	OMIM:619269
375056	MIA3	HP:0009803	Short phalanx of finger	4/4	OMIM:619269
375056	MIA3	HP:0001089	Iris atrophy	-	OMIM:259770
375056	MIA3	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
375056	MIA3	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
375056	MIA3	HP:0004209	Clinodactyly of the 5th finger	4/4	OMIM:619269
375056	MIA3	HP:0000618	Blindness	5/5	OMIM:259770
375056	MIA3	HP:0000696	Delayed eruption of permanent teeth	4/4	OMIM:619269
375056	MIA3	HP:0000667	Phthisis bulbi	-	OMIM:259770
375056	MIA3	HP:0004322	Short stature	-	OMIM:259770
375056	MIA3	HP:0003016	Metaphyseal widening	-	OMIM:259770
375056	MIA3	HP:0000704	Periodontitis	2/4	OMIM:619269
375056	MIA3	HP:0000703	Dentinogenesis imperfecta	4/4	OMIM:619269
375056	MIA3	HP:0011461	Fetal onset	2/2	OMIM:612394
375056	MIA3	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
375056	MIA3	HP:0003196	Short nose	1/1	OMIM:612394
375056	MIA3	HP:0000926	Platyspondyly	-	OMIM:259770
375056	MIA3	HP:0000926	Platyspondyly	1/1	OMIM:612394
375056	MIA3	HP:0000926	Platyspondyly	4/4	OMIM:619269
375056	MIA3	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
375056	MIA3	HP:0000826	Precocious puberty	1/4	OMIM:619269
375056	MIA3	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	3/4	OMIM:619269
375056	MIA3	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
375056	MIA3	HP:0030866	Large knee	4/4	OMIM:619269
375056	MIA3	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
375056	MIA3	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
375056	MIA3	HP:0000989	Pruritus	4/4	OMIM:619269
375056	MIA3	HP:0000939	Osteoporosis	4/5	OMIM:259770
375056	MIA3	HP:0000938	Osteopenia	1/5	OMIM:259770
375056	MIA3	HP:0000938	Osteopenia	1/1	OMIM:612394
375056	MIA3	HP:0000938	Osteopenia	2/4	OMIM:619269
375056	MIA3	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
375056	MIA3	HP:0000278	Retrognathia	1/4	OMIM:619269
375056	MIA3	HP:0000272	Malar flattening	1/1	OMIM:612394
375056	MIA3	HP:0007773	Vitreoretinopathy	-	OMIM:259770
375056	MIA3	HP:0002808	Kyphosis	1/5	OMIM:259770
375056	MIA3	HP:0000252	Microcephaly	-	OMIM:259770
375056	MIA3	HP:0001552	Barrel-shaped chest	-	OMIM:259770
375056	MIA3	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
375056	MIA3	HP:0001510	Growth delay	4/4	OMIM:619269
375056	MIA3	HP:0001513	Obesity	4/4	OMIM:619269
375056	MIA3	HP:0012368	Flat face	1/1	OMIM:612394
375056	MIA3	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
375056	MIA3	HP:0007875	Congenital blindness	4/5	OMIM:259770
375056	MIA3	HP:0007862	Retinal calcification	1/5	OMIM:259770
375056	MIA3	HP:0006480	Premature loss of teeth	2/4	OMIM:619269
375056	MIA3	HP:0000369	Low-set ears	2/2	OMIM:612394
375056	MIA3	HP:0002982	Tibial bowing	1/5	OMIM:259770
375056	MIA3	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
375056	MIA3	HP:0001629	Ventricular septal defect	-	OMIM:259770
375056	MIA3	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
375056	MIA3	HP:0000307	Pointed chin	1/2	OMIM:612394
375056	MIA3	HP:0000407	Sensorineural hearing impairment	4/4	OMIM:619269
375056	MIA3	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
375056	MIA3	HP:0000488	Retinopathy	2/4	OMIM:619269
375056	MIA3	HP:0000463	Anteverted nares	1/1	OMIM:612394
375056	MIA3	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
375056	MIA3	HP:0000426	Prominent nasal bridge	4/4	OMIM:619269
375056	MIA3	HP:0000518	Cataract	1/5	OMIM:259770
375056	MIA3	HP:0000518	Cataract	1/1	OMIM:612394
375056	MIA3	HP:0001831	Short toe	2/4	OMIM:619269
375056	MIA3	HP:0012594	Moderate albuminuria	1/4	OMIM:619269
375056	MIA3	HP:0000586	Shallow orbits	1/1	OMIM:612394
375056	MIA3	HP:0000568	Microphthalmia	1/5	OMIM:259770
375056	MIA3	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
375056	MIA3	HP:0000545	Myopia	1/1	OMIM:612394
375298	CERKL	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
375298	CERKL	HP:0001133	Constriction of peripheral visual field	-	OMIM:608380
375298	CERKL	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
375298	CERKL	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
375298	CERKL	HP:0000007	Autosomal recessive inheritance	-	OMIM:608380
375298	CERKL	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
375298	CERKL	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:608380
375298	CERKL	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
375298	CERKL	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
375298	CERKL	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
375298	CERKL	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
375298	CERKL	HP:0003621	Juvenile onset	8/19	OMIM:180100
375298	CERKL	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
375298	CERKL	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
375298	CERKL	HP:0000618	Blindness	HP:0040281	ORPHA:791
375298	CERKL	HP:0000613	Photophobia	HP:0040281	ORPHA:791
375298	CERKL	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
375298	CERKL	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
375298	CERKL	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
375298	CERKL	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
375298	CERKL	HP:0000662	Nyctalopia	26/28	OMIM:180100
375298	CERKL	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
375298	CERKL	HP:0011463	Childhood onset	3/19	OMIM:180100
375298	CERKL	HP:0011462	Young adult onset	8/19	OMIM:180100
375298	CERKL	HP:0030786	Photopsia	HP:0040283	ORPHA:791
375298	CERKL	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
375298	CERKL	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
375298	CERKL	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
375298	CERKL	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
375298	CERKL	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
375298	CERKL	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
375298	CERKL	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
375298	CERKL	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
375298	CERKL	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
375298	CERKL	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:608380
375298	CERKL	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
375298	CERKL	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
375298	CERKL	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
375298	CERKL	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
375298	CERKL	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
375298	CERKL	HP:0000510	Rod-cone dystrophy	-	OMIM:608380
375298	CERKL	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
375298	CERKL	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
375298	CERKL	HP:0000505	Visual impairment	-	OMIM:608380
375298	CERKL	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
375298	CERKL	HP:0000575	Scotoma	5/18	OMIM:180100
375298	CERKL	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
375298	CERKL	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
375298	CERKL	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
375298	CERKL	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
375298	CERKL	HP:0000543	Optic disc pallor	1/1	OMIM:180100
375298	CERKL	HP:0000543	Optic disc pallor	-	OMIM:608380
375298	CERKL	HP:0000545	Myopia	-	OMIM:180100
375307	CATIP	HP:0033524	Abnormal sperm axoneme morphology	2/2	OMIM:619379
375307	CATIP	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
375307	CATIP	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
375307	CATIP	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
375307	CATIP	HP:0000007	Autosomal recessive inheritance	-	OMIM:619379
375307	CATIP	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
375307	CATIP	HP:0032559	Short sperm flagella	2/2	OMIM:619379
375307	CATIP	HP:0032560	Coiled sperm flagella	2/2	OMIM:619379
375307	CATIP	HP:0032562	Tapered sperm head	2/2	OMIM:619379
375307	CATIP	HP:0030974	Cryptozoospermia	1/4	OMIM:619379
375307	CATIP	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
375307	CATIP	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
375307	CATIP	HP:0011462	Young adult onset	4/4	OMIM:619379
375307	CATIP	HP:0000798	Oligozoospermia	3/4	OMIM:619379
375307	CATIP	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
375307	CATIP	HP:0003251	Male infertility	4/4	OMIM:619379
375307	CATIP	HP:0012207	Reduced sperm motility	4/4	OMIM:619379
375387	NRROS	HP:0001250	Seizure	6/6	OMIM:618875
375387	NRROS	HP:0001263	Global developmental delay	6/6	OMIM:618875
375387	NRROS	HP:0000007	Autosomal recessive inheritance	-	OMIM:618875
375387	NRROS	HP:0008936	Axial hypotonia	6/6	OMIM:618875
375387	NRROS	HP:0002079	Hypoplasia of the corpus callosum	3/6	OMIM:618875
375387	NRROS	HP:0002059	Cerebral atrophy	-	OMIM:618875
375387	NRROS	HP:0002188	Delayed CNS myelination	5/6	OMIM:618875
375387	NRROS	HP:0006970	Periventricular leukomalacia	-	OMIM:618875
375387	NRROS	HP:0012389	Appendicular hypotonia	5/5	OMIM:618875
375611	SLC26A5	HP:0000007	Autosomal recessive inheritance	-	OMIM:613865
375611	SLC26A5	HP:0000407	Sensorineural hearing impairment	-	OMIM:613865
375748	ERCC6L2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615715
375748	ERCC6L2	HP:0001319	Neonatal hypotonia	1/3	OMIM:615715
375748	ERCC6L2	HP:0003621	Juvenile onset	2/3	OMIM:615715
375748	ERCC6L2	HP:0005528	Bone marrow hypocellularity	3/3	OMIM:615715
375748	ERCC6L2	HP:0001903	Anemia	3/3	OMIM:615715
375748	ERCC6L2	HP:0000992	Cutaneous photosensitivity	0/3	OMIM:615715
375748	ERCC6L2	HP:0000252	Microcephaly	2/3	OMIM:615715
375748	ERCC6L2	HP:0025708	Early young adult onset	1/3	OMIM:615715
375748	ERCC6L2	HP:0001882	Decreased total leukocyte count	3/3	OMIM:615715
375748	ERCC6L2	HP:0001873	Thrombocytopenia	3/3	OMIM:615715
375790	AGRN	HP:0002421	Poor head control	HP:0040283	ORPHA:98914
375790	AGRN	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:98913
375790	AGRN	HP:0003701	Proximal muscle weakness	1/2	OMIM:615120
375790	AGRN	HP:0003701	Proximal muscle weakness	HP:0040281	ORPHA:98914
375790	AGRN	HP:0001270	Motor delay	HP:0040283	ORPHA:98914
375790	AGRN	HP:0001288	Gait disturbance	HP:0040282	ORPHA:98914
375790	AGRN	HP:0001283	Bulbar palsy	HP:0040282	ORPHA:98914
375790	AGRN	HP:0001283	Bulbar palsy	-	OMIM:254300
375790	AGRN	HP:0001284	Areflexia	HP:0040283	ORPHA:98914
375790	AGRN	HP:0001250	Seizure	HP:0040283	ORPHA:98914
375790	AGRN	HP:0001252	Hypotonia	HP:0040283	ORPHA:98914
375790	AGRN	HP:0001251	Ataxia	HP:0040282	ORPHA:98914
375790	AGRN	HP:0001249	Intellectual disability	HP:0040282	ORPHA:98914
375790	AGRN	HP:0001265	Hyporeflexia	HP:0040284	ORPHA:98914
375790	AGRN	HP:0002515	Waddling gait	HP:0040283	ORPHA:98914
375790	AGRN	HP:0002515	Waddling gait	-	OMIM:254300
375790	AGRN	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:98913
375790	AGRN	HP:0001374	Congenital hip dislocation	HP:0040284	ORPHA:98914
375790	AGRN	HP:0001382	Joint hypermobility	HP:0040284	ORPHA:98914
375790	AGRN	HP:0410011	Abnormality of masticatory muscle	HP:0040282	ORPHA:98913
375790	AGRN	HP:0001324	Muscle weakness	HP:0040282	ORPHA:98913
375790	AGRN	HP:0000007	Autosomal recessive inheritance	-	OMIM:615120
375790	AGRN	HP:0000007	Autosomal recessive inheritance	-	OMIM:254300
375790	AGRN	HP:0002650	Scoliosis	HP:0040283	ORPHA:98913
375790	AGRN	HP:0001315	Reduced tendon reflexes	HP:0040282	ORPHA:98913
375790	AGRN	HP:0031108	Triceps weakness	HP:0040283	ORPHA:98913
375790	AGRN	HP:0001446	Abnormality of the musculature of the upper limbs	HP:0040282	ORPHA:98913
375790	AGRN	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:98913
375790	AGRN	HP:0002792	Reduced vital capacity	4/10	OMIM:254300
375790	AGRN	HP:0025401	Staring gaze	HP:0040284	ORPHA:98914
375790	AGRN	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:98914
375790	AGRN	HP:0002747	Respiratory insufficiency due to muscle weakness	-	OMIM:254300
375790	AGRN	HP:0002020	Gastroesophageal reflux	HP:0040284	ORPHA:98914
375790	AGRN	HP:0002033	Poor suck	HP:0040281	ORPHA:98914
375790	AGRN	HP:0004661	Frontalis muscle weakness	HP:0040281	ORPHA:98914
375790	AGRN	HP:0003327	Axial muscle weakness	16/18	OMIM:254300
375790	AGRN	HP:0003325	Limb-girdle muscle weakness	HP:0040283	ORPHA:98914
375790	AGRN	HP:0002015	Dysphagia	HP:0040281	ORPHA:98914
375790	AGRN	HP:0003306	Spinal rigidity	HP:0040283	ORPHA:98914
375790	AGRN	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:98914
375790	AGRN	HP:0005943	Respiratory arrest	HP:0040284	ORPHA:98914
375790	AGRN	HP:0002093	Respiratory insufficiency	HP:0040283	OMIM:615120
375790	AGRN	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:98913
375790	AGRN	HP:0003394	Muscle spasm	-	OMIM:254300
375790	AGRN	HP:0003391	Gowers sign	-	OMIM:254300
375790	AGRN	HP:0003388	Easy fatigability	-	OMIM:615120
375790	AGRN	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98914
375790	AGRN	HP:0003388	Easy fatigability	HP:0040282	ORPHA:98913
375790	AGRN	HP:0003388	Easy fatigability	-	OMIM:254300
375790	AGRN	HP:0008180	Mildly elevated creatine kinase	-	OMIM:254300
375790	AGRN	HP:0003473	Fatigable weakness	HP:0040281	ORPHA:98914
375790	AGRN	HP:0003473	Fatigable weakness	-	OMIM:254300
375790	AGRN	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:98913
375790	AGRN	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:98914
375790	AGRN	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:98913
375790	AGRN	HP:0003443	Decreased size of nerve terminals	HP:0040282	ORPHA:98913
375790	AGRN	HP:0003402	Decreased miniature endplate potentials	HP:0040282	ORPHA:98913
375790	AGRN	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2/2	OMIM:615120
375790	AGRN	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	HP:0040282	ORPHA:98913
375790	AGRN	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:98913
375790	AGRN	HP:0010536	Central sleep apnea	HP:0040282	ORPHA:98914
375790	AGRN	HP:0004885	Episodic respiratory distress	HP:0040282	ORPHA:98914
375790	AGRN	HP:0003547	Shoulder girdle muscle weakness	HP:0040282	ORPHA:98913
375790	AGRN	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	HP:0040281	ORPHA:98914
375790	AGRN	HP:0002205	Recurrent respiratory infections	HP:0040282	ORPHA:98914
375790	AGRN	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:98914
375790	AGRN	HP:0010628	Facial palsy	HP:0040282	ORPHA:98913
375790	AGRN	HP:0002392	EEG with polyspike wave complexes	HP:0040284	ORPHA:98914
375790	AGRN	HP:0003693	Distal amyotrophy	HP:0040283	ORPHA:98914
375790	AGRN	HP:0003693	Distal amyotrophy	-	OMIM:254300
375790	AGRN	HP:0002329	Drowsiness	HP:0040283	ORPHA:98913
375790	AGRN	HP:0007126	Proximal amyotrophy	-	OMIM:254300
375790	AGRN	HP:0008443	Neuropathic spinal arthropathy	HP:0040282	ORPHA:98914
375790	AGRN	HP:0003621	Juvenile onset	-	OMIM:254300
375790	AGRN	HP:0007178	Motor polyneuropathy	HP:0040284	ORPHA:98914
375790	AGRN	HP:0009077	Weakness of long finger extensor muscles	HP:0040283	ORPHA:98913
375790	AGRN	HP:0000639	Nystagmus	HP:0040284	ORPHA:98914
375790	AGRN	HP:0000651	Diplopia	HP:0040284	ORPHA:98914
375790	AGRN	HP:0000651	Diplopia	HP:0040283	ORPHA:98913
375790	AGRN	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:98914
375790	AGRN	HP:0009053	Distal lower limb muscle weakness	HP:0040283	ORPHA:98914
375790	AGRN	HP:0009046	Difficulty running	2/2	OMIM:615120
375790	AGRN	HP:0009005	Weakness of the intrinsic hand muscles	HP:0040282	ORPHA:98913
375790	AGRN	HP:0005659	Thoracic kyphoscoliosis	HP:0040283	ORPHA:98913
375790	AGRN	HP:0000768	Pectus carinatum	HP:0040284	ORPHA:98914
375790	AGRN	HP:0011469	Nasal regurgitation	HP:0040282	ORPHA:98914
375790	AGRN	HP:0011463	Childhood onset	2/2	OMIM:615120
375790	AGRN	HP:0011463	Childhood onset	-	OMIM:254300
375790	AGRN	HP:0012764	Orthopnea	HP:0040283	ORPHA:98913
375790	AGRN	HP:0000774	Narrow chest	-	OMIM:615120
375790	AGRN	HP:0012801	Narrow jaw	HP:0040283	ORPHA:98914
375790	AGRN	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:98913
375790	AGRN	HP:0030842	Choking episodes	HP:0040282	ORPHA:98914
375790	AGRN	HP:0010307	Stridor	HP:0040283	ORPHA:98914
375790	AGRN	HP:0100285	EMG: impaired neuromuscular transmission	HP:0040282	ORPHA:98914
375790	AGRN	HP:0000961	Cyanosis	HP:0040282	ORPHA:98914
375790	AGRN	HP:0000961	Cyanosis	HP:0040283	ORPHA:98913
375790	AGRN	HP:0100295	Muscle fiber atrophy	HP:0040282	ORPHA:98914
375790	AGRN	HP:0000276	Long face	HP:0040283	ORPHA:98914
375790	AGRN	HP:0002804	Arthrogryposis multiplex congenita	HP:0040282	ORPHA:98914
375790	AGRN	HP:0002882	Sudden episodic apnea	HP:0040281	ORPHA:98914
375790	AGRN	HP:0002878	Respiratory failure	HP:0040283	ORPHA:98913
375790	AGRN	HP:0000218	High palate	HP:0040283	ORPHA:98914
375790	AGRN	HP:0000218	High palate	HP:0040282	ORPHA:98913
375790	AGRN	HP:0000218	High palate	HP:0040283	OMIM:615120
375790	AGRN	HP:0002875	Exertional dyspnea	HP:0040283	ORPHA:98913
375790	AGRN	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:98914
375790	AGRN	HP:0001558	Decreased fetal movement	HP:0040282	ORPHA:98914
375790	AGRN	HP:0001558	Decreased fetal movement	HP:0040283	OMIM:254300
375790	AGRN	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	HP:0040282	ORPHA:98914
375790	AGRN	HP:0002870	Obstructive sleep apnea	HP:0040284	ORPHA:98914
375790	AGRN	HP:0031374	Ankle weakness	HP:0040283	ORPHA:98913
375790	AGRN	HP:0030051	Tip-toe gait	HP:0040283	ORPHA:98914
375790	AGRN	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	-	ORPHA:98914
375790	AGRN	HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	0/19	OMIM:254300
375790	AGRN	HP:0001618	Dysphonia	HP:0040283	ORPHA:98914
375790	AGRN	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040283	ORPHA:98913
375790	AGRN	HP:0001612	Weak cry	HP:0040283	ORPHA:98914
375790	AGRN	HP:0001611	Hypernasal speech	HP:0040282	ORPHA:98914
375790	AGRN	HP:0030199	Fatigable weakness of neck muscles	HP:0040282	ORPHA:98913
375790	AGRN	HP:0000369	Low-set ears	HP:0040284	ORPHA:98914
375790	AGRN	HP:0000308	Microretrognathia	HP:0040284	ORPHA:98914
375790	AGRN	HP:0030319	Weakness of facial musculature	2/2	OMIM:615120
375790	AGRN	HP:0030319	Weakness of facial musculature	19/19	OMIM:254300
375790	AGRN	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:98914
375790	AGRN	HP:0012473	Tongue atrophy	4/10	OMIM:254300
375790	AGRN	HP:0000496	Abnormality of eye movement	HP:0040282	ORPHA:98913
375790	AGRN	HP:0000467	Neck muscle weakness	HP:0040281	ORPHA:98914
375790	AGRN	HP:0001761	Pes cavus	HP:0040283	ORPHA:98914
375790	AGRN	HP:0000508	Ptosis	HP:0040281	ORPHA:98914
375790	AGRN	HP:0000508	Ptosis	HP:0040282	ORPHA:98913
375790	AGRN	HP:0000508	Ptosis	2/2	OMIM:615120
375790	AGRN	HP:0000508	Ptosis	13/19	OMIM:254300
375790	AGRN	HP:0000597	Ophthalmoparesis	HP:0040282	ORPHA:98913
375790	AGRN	HP:0000597	Ophthalmoparesis	HP:0040283	OMIM:254300
375790	AGRN	HP:0000565	Esotropia	HP:0040284	ORPHA:98914
375790	AGRN	HP:0012515	Hip flexor weakness	HP:0040283	ORPHA:98913
378884	NHLRC1	HP:0007270	Atypical absence seizure	HP:0040283	ORPHA:501
378884	NHLRC1	HP:0001268	Mental deterioration	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0001289	Confusion	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0001288	Gait disturbance	8/14	OMIM:620681
378884	NHLRC1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0001250	Seizure	HP:0040281	ORPHA:501
378884	NHLRC1	HP:0001251	Ataxia	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0001260	Dysarthria	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0001257	Spasticity	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0007359	Focal-onset seizure	HP:0040283	ORPHA:501
378884	NHLRC1	HP:0007334	Bilateral tonic-clonic seizure with focal onset	HP:0040283	ORPHA:501
378884	NHLRC1	HP:0002540	Inability to walk	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0002521	Hypsarrhythmia	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0001399	Hepatic failure	HP:0040283	ORPHA:501
378884	NHLRC1	HP:0025357	Erratic myoclonus	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0007537	Severe photosensitivity	HP:0040283	ORPHA:501
378884	NHLRC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620681
378884	NHLRC1	HP:0001336	Myoclonus	17/17	OMIM:620681
378884	NHLRC1	HP:0001336	Myoclonus	HP:0040283	ORPHA:501
378884	NHLRC1	HP:0001312	Giant somatosensory evoked potentials	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0002069	Bilateral tonic-clonic seizure	19/22	OMIM:620681
378884	NHLRC1	HP:0002069	Bilateral tonic-clonic seizure	HP:0040283	ORPHA:501
378884	NHLRC1	HP:0040288	Nasogastric tube feeding	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0002121	Generalized non-motor (absence) seizure	HP:0040283	ORPHA:501
378884	NHLRC1	HP:0002133	Status epilepticus	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0002100	Recurrent aspiration pneumonia	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0002384	Focal impaired awareness seizure	1/22	OMIM:620681
378884	NHLRC1	HP:0002384	Focal impaired awareness seizure	HP:0040283	ORPHA:501
378884	NHLRC1	HP:0002367	Visual hallucination	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:501
378884	NHLRC1	HP:0002344	Progressive neurologic deterioration	18/22	OMIM:620681
378884	NHLRC1	HP:0002315	Headache	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0010819	Atonic seizure	HP:0040283	ORPHA:501
378884	NHLRC1	HP:0010819	Atonic seizure	2/22	OMIM:620681
378884	NHLRC1	HP:0003621	Juvenile onset	21/22	OMIM:620681
378884	NHLRC1	HP:0000716	Depression	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0000712	Emotional lability	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0000726	Dementia	9/17	OMIM:620681
378884	NHLRC1	HP:0000726	Dementia	HP:0040282	ORPHA:501
378884	NHLRC1	HP:0011462	Young adult onset	1/17	OMIM:620681
378884	NHLRC1	HP:0100318	Lafora bodies	HP:0040280	ORPHA:501
378884	NHLRC1	HP:0100318	Lafora bodies	4/4	OMIM:620681
378884	NHLRC1	HP:0031358	Vegetative state	HP:0040283	ORPHA:501
378884	NHLRC1	HP:0032792	Tonic seizure	0/22	OMIM:620681
378884	NHLRC1	HP:0032794	Myoclonic seizure	21/22	OMIM:620681
378884	NHLRC1	HP:0011165	Focal sensory seizure with visual features	HP:0040283	ORPHA:501
378884	NHLRC1	HP:0011147	Typical absence seizure	6/22	OMIM:620681
378884	NHLRC1	HP:0012444	Brain atrophy	HP:0040283	ORPHA:501
387119	CEP85L	HP:0025100	Abnormal hippocampus morphology	HP:0040281	ORPHA:572013
387119	CEP85L	HP:0007302	Bipolar affective disorder	1/13	OMIM:618873
387119	CEP85L	HP:0007270	Atypical absence seizure	1/12	OMIM:618873
387119	CEP85L	HP:0010864	Intellectual disability, severe	HP:0040281	ORPHA:572013
387119	CEP85L	HP:0001249	Intellectual disability	6/13	OMIM:618873
387119	CEP85L	HP:0001263	Global developmental delay	5/13	OMIM:618873
387119	CEP85L	HP:0001257	Spasticity	HP:0040283	ORPHA:572013
387119	CEP85L	HP:0008765	Auditory hallucination	1/13	OMIM:618873
387119	CEP85L	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040281	ORPHA:572013
387119	CEP85L	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1/12	OMIM:618873
387119	CEP85L	HP:0033725	Thin corpus callosum	HP:0040282	ORPHA:572013
387119	CEP85L	HP:0000011	Neurogenic bladder	HP:0040283	ORPHA:572013
387119	CEP85L	HP:0000006	Autosomal dominant inheritance	-	OMIM:618873
387119	CEP85L	HP:0032411	Posterior predominant subcortical band heterotopia	9/13	OMIM:618873
387119	CEP85L	HP:0001302	Pachygyria	3/13	OMIM:618873
387119	CEP85L	HP:0001302	Pachygyria	HP:0040281	ORPHA:572013
387119	CEP85L	HP:0008936	Axial hypotonia	HP:0040281	ORPHA:572013
387119	CEP85L	HP:0002015	Dysphagia	HP:0040282	ORPHA:572013
387119	CEP85L	HP:0002069	Bilateral tonic-clonic seizure	2/12	OMIM:618873
387119	CEP85L	HP:0002121	Generalized non-motor (absence) seizure	1/12	OMIM:618873
387119	CEP85L	HP:0002197	Generalized-onset seizure	2/12	OMIM:618873
387119	CEP85L	HP:0100704	Cerebral visual impairment	2/13	OMIM:618873
387119	CEP85L	HP:0100704	Cerebral visual impairment	HP:0040283	ORPHA:572013
387119	CEP85L	HP:0002384	Focal impaired awareness seizure	6/12	OMIM:618873
387119	CEP85L	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2/12	OMIM:618873
387119	CEP85L	HP:0002353	EEG abnormality	11/11	OMIM:618873
387119	CEP85L	HP:0010819	Atonic seizure	4/12	OMIM:618873
387119	CEP85L	HP:0031882	Agyria	2/13	OMIM:618873
387119	CEP85L	HP:0000609	Optic nerve hypoplasia	HP:0040283	ORPHA:572013
387119	CEP85L	HP:0000668	Hypodontia	1/13	OMIM:618873
387119	CEP85L	HP:0004305	Involuntary movements	HP:0040282	ORPHA:572013
387119	CEP85L	HP:0000733	Motor stereotypy	HP:0040283	ORPHA:572013
387119	CEP85L	HP:0000716	Depression	1/13	OMIM:618873
387119	CEP85L	HP:0000718	Aggressive behavior	2/13	OMIM:618873
387119	CEP85L	HP:0000729	Autistic behavior	1/13	OMIM:618873
387119	CEP85L	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:572013
387119	CEP85L	HP:0040196	Mild microcephaly	1/13	OMIM:618873
387119	CEP85L	HP:0002827	Hip dislocation	HP:0040283	ORPHA:572013
387119	CEP85L	HP:0032792	Tonic seizure	3/12	OMIM:618873
387119	CEP85L	HP:0032794	Myoclonic seizure	2/12	OMIM:618873
387119	CEP85L	HP:0032794	Myoclonic seizure	HP:0040283	ORPHA:572013
387119	CEP85L	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:572013
387119	CEP85L	HP:0030301	Abnormality of the anterior commissure	HP:0040281	ORPHA:572013
387119	CEP85L	HP:0000486	Strabismus	HP:0040282	ORPHA:572013
387119	CEP85L	HP:0012469	Infantile spasms	HP:0040283	ORPHA:572013
387119	CEP85L	HP:0030222	Visual agnosia	1/13	OMIM:618873
387119	CEP85L	HP:0000473	Torticollis	1/13	OMIM:618873
387119	CEP85L	HP:0031589	Suicidal ideation	2/13	OMIM:618873
387700	SLC16A12	HP:0000006	Autosomal dominant inheritance	-	OMIM:612018
387700	SLC16A12	HP:0003621	Juvenile onset	-	OMIM:612018
387700	SLC16A12	HP:0003076	Glycosuria	9/14	OMIM:612018
387700	SLC16A12	HP:0000482	Microcornea	11/14	OMIM:612018
387700	SLC16A12	HP:0000518	Cataract	11/14	OMIM:612018
387733	IFITM5	HP:0001187	Hyperextensibility of the finger joints	3/17	OMIM:610967
387733	IFITM5	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
387733	IFITM5	HP:0001293	Cranial nerve compression	-	OMIM:131300
387733	IFITM5	HP:0001256	Intellectual disability, mild	-	OMIM:259770
387733	IFITM5	HP:0001252	Hypotonia	-	OMIM:259770
387733	IFITM5	HP:0001252	Hypotonia	2/7	OMIM:615777
387733	IFITM5	HP:0001249	Intellectual disability	5/7	OMIM:615777
387733	IFITM5	HP:0001263	Global developmental delay	1/1	OMIM:612394
387733	IFITM5	HP:0001263	Global developmental delay	-	OMIM:615777
387733	IFITM5	HP:0002515	Waddling gait	54/102	OMIM:131300
387733	IFITM5	HP:0001382	Joint hypermobility	HP:0040283	OMIM:610967
387733	IFITM5	HP:0001382	Joint hypermobility	-	OMIM:259770
387733	IFITM5	HP:0001382	Joint hypermobility	-	OMIM:615777
387733	IFITM5	HP:0002680	J-shaped sella turcica	1/1	OMIM:612394
387733	IFITM5	HP:0002694	Sclerosis of skull base	-	OMIM:131300
387733	IFITM5	HP:0008897	Postnatal growth retardation	-	OMIM:615777
387733	IFITM5	HP:0008897	Postnatal growth retardation	1/1	OMIM:612394
387733	IFITM5	HP:0006184	Decreased palmar creases	1/1	OMIM:612394
387733	IFITM5	HP:0002659	Increased susceptibility to fractures	5/5	OMIM:259770
387733	IFITM5	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
387733	IFITM5	HP:0001324	Muscle weakness	40/96	OMIM:131300
387733	IFITM5	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
387733	IFITM5	HP:0000007	Autosomal recessive inheritance	-	OMIM:259770
387733	IFITM5	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
387733	IFITM5	HP:0000007	Autosomal recessive inheritance	-	OMIM:612394
387733	IFITM5	HP:0000006	Autosomal dominant inheritance	-	OMIM:610967
387733	IFITM5	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
387733	IFITM5	HP:0002650	Scoliosis	1/5	OMIM:259770
387733	IFITM5	HP:0002650	Scoliosis	1/1	OMIM:612394
387733	IFITM5	HP:0002650	Scoliosis	12/14	OMIM:131300
387733	IFITM5	HP:0002645	Wormian bones	5/7	OMIM:610967
387733	IFITM5	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
387733	IFITM5	HP:0002644	Abnormal pelvic girdle bone morphology	-	OMIM:610967
387733	IFITM5	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
387733	IFITM5	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
387733	IFITM5	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
387733	IFITM5	HP:0000164	Abnormality of the dentition	0/1	OMIM:612394
387733	IFITM5	HP:0000175	Cleft palate	2/7	OMIM:615777
387733	IFITM5	HP:0002757	Recurrent fractures	4/5	OMIM:259770
387733	IFITM5	HP:0002757	Recurrent fractures	7/7	OMIM:610967
387733	IFITM5	HP:0002756	Pathologic fracture	-	OMIM:259770
387733	IFITM5	HP:0002756	Pathologic fracture	1/1	OMIM:612394
387733	IFITM5	HP:0002751	Kyphoscoliosis	-	OMIM:259770
387733	IFITM5	HP:0002714	Downturned corners of mouth	1/1	OMIM:612394
387733	IFITM5	HP:0003393	Thenar muscle atrophy	1/1	OMIM:612394
387733	IFITM5	HP:0003388	Easy fatigability	36/76	OMIM:131300
387733	IFITM5	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
387733	IFITM5	HP:0010485	Hyperextensibility at elbow	4/17	OMIM:610967
387733	IFITM5	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	1/1	OMIM:612394
387733	IFITM5	HP:0002119	Ventriculomegaly	1/2	OMIM:612394
387733	IFITM5	HP:0002132	Porencephalic cyst	1/2	OMIM:612394
387733	IFITM5	HP:0002164	Nail dysplasia	1/1	OMIM:612394
387733	IFITM5	HP:0010557	Overlapping fingers	1/2	OMIM:612394
387733	IFITM5	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	1/1	OMIM:612394
387733	IFITM5	HP:0003593	Infantile onset	1/5	OMIM:259770
387733	IFITM5	HP:0003593	Infantile onset	-	OMIM:610967
387733	IFITM5	HP:0003577	Congenital onset	4/5	OMIM:259770
387733	IFITM5	HP:0002208	Coarse hair	1/1	OMIM:612394
387733	IFITM5	HP:0003510	Severe short stature	7/7	OMIM:615777
387733	IFITM5	HP:0002384	Focal impaired awareness seizure	1/5	OMIM:259770
387733	IFITM5	HP:0025019	Arterial rupture	1/1	OMIM:612394
387733	IFITM5	HP:0002315	Headache	-	OMIM:131300
387733	IFITM5	HP:0004976	Knee dislocation	6/7	OMIM:615777
387733	IFITM5	HP:0003645	Prolonged partial thromboplastin time	0/1	OMIM:612394
387733	IFITM5	HP:0009803	Short phalanx of finger	-	OMIM:615777
387733	IFITM5	HP:0001089	Iris atrophy	-	OMIM:259770
387733	IFITM5	HP:0009763	Limb pain	63/92	OMIM:131300
387733	IFITM5	HP:0032199	Abnormal prothrombin time	0/1	OMIM:612394
387733	IFITM5	HP:0008422	Vertebral wedging	2/7	OMIM:610967
387733	IFITM5	HP:0003621	Juvenile onset	-	OMIM:131300
387733	IFITM5	HP:0004944	Dilatation of the cerebral artery	1/1	OMIM:612394
387733	IFITM5	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
387733	IFITM5	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
387733	IFITM5	HP:6001056	Out-toeing	-	OMIM:131300
387733	IFITM5	HP:0000651	Diplopia	-	OMIM:131300
387733	IFITM5	HP:0000618	Blindness	5/5	OMIM:259770
387733	IFITM5	HP:0001956	Truncal obesity	2/7	OMIM:615777
387733	IFITM5	HP:0001903	Anemia	HP:0040283	OMIM:131300
387733	IFITM5	HP:0010049	Short metacarpal	-	OMIM:615777
387733	IFITM5	HP:0000678	Dental crowding	-	OMIM:615777
387733	IFITM5	HP:0000670	Carious teeth	-	OMIM:131300
387733	IFITM5	HP:0011304	Broad thumb	2/7	OMIM:615777
387733	IFITM5	HP:0000668	Hypodontia	-	OMIM:615777
387733	IFITM5	HP:0000667	Phthisis bulbi	-	OMIM:259770
387733	IFITM5	HP:0000664	Synophrys	-	OMIM:615777
387733	IFITM5	HP:0004322	Short stature	-	OMIM:259770
387733	IFITM5	HP:0004322	Short stature	4/7	OMIM:610967
387733	IFITM5	HP:0004396	Poor appetite	-	OMIM:131300
387733	IFITM5	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
387733	IFITM5	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
387733	IFITM5	HP:0003016	Metaphyseal widening	-	OMIM:259770
387733	IFITM5	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
387733	IFITM5	HP:0003026	Short long bone	7/7	OMIM:615777
387733	IFITM5	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
387733	IFITM5	HP:0000767	Pectus excavatum	2/7	OMIM:615777
387733	IFITM5	HP:0000768	Pectus carinatum	1/7	OMIM:615777
387733	IFITM5	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
387733	IFITM5	HP:0000750	Delayed speech and language development	-	OMIM:615777
387733	IFITM5	HP:0000703	Dentinogenesis imperfecta	0/7	OMIM:610967
387733	IFITM5	HP:0011461	Fetal onset	7/7	OMIM:615777
387733	IFITM5	HP:0011461	Fetal onset	2/2	OMIM:612394
387733	IFITM5	HP:0000774	Narrow chest	2/7	OMIM:615777
387733	IFITM5	HP:0009110	Diaphragmatic eventration	1/1	OMIM:612394
387733	IFITM5	HP:0003196	Short nose	1/1	OMIM:612394
387733	IFITM5	HP:0000926	Platyspondyly	1/7	OMIM:610967
387733	IFITM5	HP:0000926	Platyspondyly	-	OMIM:259770
387733	IFITM5	HP:0000926	Platyspondyly	1/7	OMIM:615777
387733	IFITM5	HP:0000926	Platyspondyly	1/1	OMIM:612394
387733	IFITM5	HP:0003180	Flat acetabular roof	-	OMIM:615777
387733	IFITM5	HP:0004482	Relative macrocephaly	-	OMIM:615777
387733	IFITM5	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
387733	IFITM5	HP:0003090	Hypoplasia of the capital femoral epiphysis	1/1	OMIM:612394
387733	IFITM5	HP:0000823	Delayed puberty	-	OMIM:131300
387733	IFITM5	HP:0000894	Short clavicles	-	OMIM:615777
387733	IFITM5	HP:0004565	Severe platyspondyly	1/5	OMIM:259770
387733	IFITM5	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
387733	IFITM5	HP:0004586	Biconcave vertebral bodies	1/5	OMIM:259770
387733	IFITM5	HP:0004586	Biconcave vertebral bodies	4/7	OMIM:610967
387733	IFITM5	HP:0000978	Bruising susceptibility	1/1	OMIM:612394
387733	IFITM5	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
387733	IFITM5	HP:0000939	Osteoporosis	4/5	OMIM:259770
387733	IFITM5	HP:0000938	Osteopenia	7/7	OMIM:610967
387733	IFITM5	HP:0000938	Osteopenia	1/5	OMIM:259770
387733	IFITM5	HP:0000938	Osteopenia	1/1	OMIM:612394
387733	IFITM5	HP:0008037	Absent anterior chamber of the eye	-	OMIM:259770
387733	IFITM5	HP:0000286	Epicanthus	1/7	OMIM:615777
387733	IFITM5	HP:0000280	Coarse facial features	2/7	OMIM:615777
387733	IFITM5	HP:0000272	Malar flattening	1/1	OMIM:612394
387733	IFITM5	HP:0007773	Vitreoretinopathy	-	OMIM:259770
387733	IFITM5	HP:0002827	Hip dislocation	3/7	OMIM:615777
387733	IFITM5	HP:0005084	Anterior radial head dislocation	17/23	OMIM:610967
387733	IFITM5	HP:0002808	Kyphosis	1/5	OMIM:259770
387733	IFITM5	HP:0006394	Limited pronation/supination of forearm	7/7	OMIM:610967
387733	IFITM5	HP:0000252	Microcephaly	-	OMIM:259770
387733	IFITM5	HP:0000252	Microcephaly	-	OMIM:615777
387733	IFITM5	HP:0001552	Barrel-shaped chest	-	OMIM:259770
387733	IFITM5	HP:0002857	Genu valgum	-	OMIM:131300
387733	IFITM5	HP:0001533	Slender build	-	OMIM:131300
387733	IFITM5	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
387733	IFITM5	HP:0001511	Intrauterine growth retardation	2/2	OMIM:612394
387733	IFITM5	HP:0007807	Optic nerve compression	-	OMIM:131300
387733	IFITM5	HP:0012368	Flat face	7/7	OMIM:615777
387733	IFITM5	HP:0012368	Flat face	1/1	OMIM:612394
387733	IFITM5	HP:0007898	Exudative retinopathy	1/5	OMIM:259770
387733	IFITM5	HP:0007875	Congenital blindness	4/5	OMIM:259770
387733	IFITM5	HP:0007862	Retinal calcification	1/5	OMIM:259770
387733	IFITM5	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
387733	IFITM5	HP:0000365	Hearing impairment	10/67	OMIM:131300
387733	IFITM5	HP:0000369	Low-set ears	2/2	OMIM:612394
387733	IFITM5	HP:0000343	Long philtrum	1/7	OMIM:615777
387733	IFITM5	HP:0011001	Increased bone mineral density	-	OMIM:131300
387733	IFITM5	HP:0002982	Tibial bowing	1/5	OMIM:259770
387733	IFITM5	HP:0000311	Round face	2/7	OMIM:615777
387733	IFITM5	HP:0002987	Elbow flexion contracture	1/1	OMIM:612394
387733	IFITM5	HP:0000325	Triangular face	10/17	OMIM:610967
387733	IFITM5	HP:0001629	Ventricular septal defect	-	OMIM:259770
387733	IFITM5	HP:0002953	Vertebral compression fracture	1/5	OMIM:259770
387733	IFITM5	HP:0002970	Genu varum	-	OMIM:615777
387733	IFITM5	HP:0000307	Pointed chin	1/2	OMIM:612394
387733	IFITM5	HP:0000303	Mandibular prognathia	-	OMIM:131300
387733	IFITM5	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:612394
387733	IFITM5	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
387733	IFITM5	HP:0000463	Anteverted nares	1/1	OMIM:612394
387733	IFITM5	HP:0000470	Short neck	1/7	OMIM:615777
387733	IFITM5	HP:0001769	Broad foot	HP:0040283	OMIM:615777
387733	IFITM5	HP:0001763	Pes planus	3/17	OMIM:610967
387733	IFITM5	HP:0001763	Pes planus	1/7	OMIM:615777
387733	IFITM5	HP:0030268	Hyperplastic callus formation	4/7	OMIM:610967
387733	IFITM5	HP:0001776	Bilateral talipes equinovarus	1/1	OMIM:612394
387733	IFITM5	HP:0000518	Cataract	1/5	OMIM:259770
387733	IFITM5	HP:0000518	Cataract	1/1	OMIM:612394
387733	IFITM5	HP:0001840	Metatarsus adductus	-	OMIM:615777
387733	IFITM5	HP:0000520	Proptosis	2/4	OMIM:131300
387733	IFITM5	HP:0000520	Proptosis	7/7	OMIM:615777
387733	IFITM5	HP:0000592	Blue sclerae	2/7	OMIM:615777
387733	IFITM5	HP:0000592	Blue sclerae	2/24	OMIM:610967
387733	IFITM5	HP:0000586	Shallow orbits	1/1	OMIM:612394
387733	IFITM5	HP:0000568	Microphthalmia	1/5	OMIM:259770
387733	IFITM5	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
387733	IFITM5	HP:0012514	Lower limb pain	4/4	OMIM:131300
387733	IFITM5	HP:0001873	Thrombocytopenia	0/1	OMIM:612394
387733	IFITM5	HP:0000545	Myopia	1/1	OMIM:612394
387787	LIPT2	HP:0009879	Simplified gyral pattern	1/3	OMIM:617668
387787	LIPT2	HP:0001298	Encephalopathy	3/3	OMIM:617668
387787	LIPT2	HP:0001285	Spastic tetraparesis	1/3	OMIM:617668
387787	LIPT2	HP:0001250	Seizure	1/3	OMIM:617668
387787	LIPT2	HP:0001252	Hypotonia	2/3	OMIM:617668
387787	LIPT2	HP:0001263	Global developmental delay	3/3	OMIM:617668
387787	LIPT2	HP:0001332	Dystonia	1/3	OMIM:617668
387787	LIPT2	HP:0001344	Absent speech	1/1	OMIM:617668
387787	LIPT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617668
387787	LIPT2	HP:6000830	Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts	-	OMIM:617668
387787	LIPT2	HP:0008936	Axial hypotonia	1/1	OMIM:617668
387787	LIPT2	HP:0003348	Hyperalaninemia	3/3	OMIM:617668
387787	LIPT2	HP:0002093	Respiratory insufficiency	1/3	OMIM:617668
387787	LIPT2	HP:0002154	Hyperglycinemia	2/3	OMIM:617668
387787	LIPT2	HP:0002151	Increased circulating lactate concentration	3/3	OMIM:617668
387787	LIPT2	HP:0002120	Cerebral cortical atrophy	1/3	OMIM:617668
387787	LIPT2	HP:0002119	Ventriculomegaly	3/3	OMIM:617668
387787	LIPT2	HP:0002188	Delayed CNS myelination	1/3	OMIM:617668
387787	LIPT2	HP:0002194	Delayed gross motor development	1/1	OMIM:617668
387787	LIPT2	HP:0003542	Increased circulating pyruvate concentration	1/3	OMIM:617668
387787	LIPT2	HP:0011968	Feeding difficulties	1/1	OMIM:617668
387787	LIPT2	HP:0007109	Periventricular cysts	2/3	OMIM:617668
387787	LIPT2	HP:0003623	Neonatal onset	3/3	OMIM:617668
387787	LIPT2	HP:0006956	Lateral ventricle dilatation	2/3	OMIM:617668
387787	LIPT2	HP:0012736	Profound global developmental delay	3/3	OMIM:617668
387787	LIPT2	HP:0012707	Elevated brain lactate level by MRS	1/1	OMIM:617668
387787	LIPT2	HP:0003128	Lactic acidosis	2/3	OMIM:617668
387787	LIPT2	HP:0000252	Microcephaly	1/3	OMIM:617668
387787	LIPT2	HP:0001522	Death in infancy	2/3	OMIM:617668
387787	LIPT2	HP:0031518	Absent posterior alpha rhythm	1/3	OMIM:617668
388015	RTL1	HP:0001181	Adducted thumb	HP:0040283	ORPHA:96334
388015	RTL1	HP:0008551	Microtia	HP:0040282	ORPHA:96334
388015	RTL1	HP:0001270	Motor delay	HP:0040281	ORPHA:96184
388015	RTL1	HP:0001270	Motor delay	HP:0040281	ORPHA:254531
388015	RTL1	HP:0001270	Motor delay	HP:0040281	ORPHA:254525
388015	RTL1	HP:0001256	Intellectual disability, mild	HP:0040281	ORPHA:254534
388015	RTL1	HP:0001250	Seizure	HP:0040283	ORPHA:96334
388015	RTL1	HP:0001252	Hypotonia	HP:0040283	ORPHA:96334
388015	RTL1	HP:0001252	Hypotonia	HP:0040281	ORPHA:254531
388015	RTL1	HP:0001252	Hypotonia	HP:0040282	ORPHA:254534
388015	RTL1	HP:0001252	Hypotonia	HP:0040281	ORPHA:254525
388015	RTL1	HP:0001252	Hypotonia	HP:0040283	ORPHA:254528
388015	RTL1	HP:0001252	Hypotonia	HP:0040281	ORPHA:96184
388015	RTL1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:254531
388015	RTL1	HP:0001249	Intellectual disability	HP:0040283	ORPHA:254525
388015	RTL1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:96184
388015	RTL1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:96334
388015	RTL1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:254534
388015	RTL1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:254528
388015	RTL1	HP:0002557	Hypoplastic nipples	HP:0040283	ORPHA:96334
388015	RTL1	HP:0001239	Wrist flexion contracture	HP:0040283	ORPHA:254528
388015	RTL1	HP:0100864	Short femoral neck	HP:0040283	ORPHA:96334
388015	RTL1	HP:0001220	Interphalangeal joint contracture of finger	HP:0040283	ORPHA:96334
388015	RTL1	HP:0001371	Flexion contracture	HP:0040282	ORPHA:96334
388015	RTL1	HP:0001371	Flexion contracture	HP:0040282	ORPHA:254528
388015	RTL1	HP:0001382	Joint hypermobility	HP:0040281	ORPHA:254531
388015	RTL1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:254528
388015	RTL1	HP:0001382	Joint hypermobility	HP:0040282	ORPHA:96184
388015	RTL1	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:254528
388015	RTL1	HP:0002694	Sclerosis of skull base	HP:0040283	ORPHA:96334
388015	RTL1	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:96184
388015	RTL1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:96334
388015	RTL1	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:96334
388015	RTL1	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:254531
388015	RTL1	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:254534
388015	RTL1	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:254525
388015	RTL1	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:254528
388015	RTL1	HP:0008897	Postnatal growth retardation	HP:0040281	ORPHA:96184
388015	RTL1	HP:0008872	Feeding difficulties in infancy	HP:0040281	ORPHA:254534
388015	RTL1	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:254525
388015	RTL1	HP:0002673	Coxa valga	HP:0040283	ORPHA:96334
388015	RTL1	HP:0001339	Lissencephaly	HP:0040283	ORPHA:96334
388015	RTL1	HP:0002650	Scoliosis	HP:0040283	ORPHA:96184
388015	RTL1	HP:0002650	Scoliosis	HP:0040283	ORPHA:96334
388015	RTL1	HP:0002650	Scoliosis	HP:0040283	ORPHA:254531
388015	RTL1	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:254525
388015	RTL1	HP:0002645	Wormian bones	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000194	Open mouth	HP:0040283	ORPHA:254528
388015	RTL1	HP:0000193	Bifid uvula	HP:0040283	ORPHA:96184
388015	RTL1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000160	Narrow mouth	HP:0040283	ORPHA:96184
388015	RTL1	HP:0000158	Macroglossia	HP:0040283	ORPHA:254528
388015	RTL1	HP:0000158	Macroglossia	HP:0040282	ORPHA:96334
388015	RTL1	HP:0000175	Cleft palate	HP:0040283	ORPHA:96184
388015	RTL1	HP:0007685	Peripheral retinal avascularization	HP:0040283	ORPHA:96334
388015	RTL1	HP:0008947	Floppy infant	HP:0040283	ORPHA:254531
388015	RTL1	HP:0006267	Large placenta	HP:0040281	ORPHA:254534
388015	RTL1	HP:0006267	Large placenta	HP:0040281	ORPHA:96334
388015	RTL1	HP:0006267	Large placenta	HP:0040282	ORPHA:254528
388015	RTL1	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:254525
388015	RTL1	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:254528
388015	RTL1	HP:0001433	Hepatosplenomegaly	HP:0040283	ORPHA:96334
388015	RTL1	HP:0002751	Kyphoscoliosis	HP:0040282	ORPHA:96334
388015	RTL1	HP:0002714	Downturned corners of mouth	HP:0040283	ORPHA:254525
388015	RTL1	HP:0002021	Pyloric stenosis	HP:0040283	ORPHA:96184
388015	RTL1	HP:0002033	Poor suck	HP:0040282	ORPHA:254534
388015	RTL1	HP:0002002	Deep philtrum	HP:0040282	ORPHA:96334
388015	RTL1	HP:0005989	Redundant neck skin	HP:0040283	ORPHA:254528
388015	RTL1	HP:0005989	Redundant neck skin	HP:0040283	ORPHA:96334
388015	RTL1	HP:0004673	Decreased facial expression	HP:0040283	ORPHA:254531
388015	RTL1	HP:0002007	Frontal bossing	HP:0040283	ORPHA:96334
388015	RTL1	HP:0002089	Pulmonary hypoplasia	HP:0040283	ORPHA:96334
388015	RTL1	HP:0002092	Pulmonary arterial hypertension	HP:0040283	ORPHA:96334
388015	RTL1	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:96334
388015	RTL1	HP:0002057	Prominent glabella	HP:0040283	ORPHA:96334
388015	RTL1	HP:0009600	Thumb contracture	HP:0040283	ORPHA:96334
388015	RTL1	HP:0002194	Delayed gross motor development	HP:0040283	ORPHA:254534
388015	RTL1	HP:0010561	Undulate ribs	HP:0040283	ORPHA:96334
388015	RTL1	HP:0010511	Long toe	HP:0040283	ORPHA:254528
388015	RTL1	HP:0011823	Chin with horizontal crease	HP:0040282	ORPHA:96334
388015	RTL1	HP:0011824	Chin with H-shaped crease	HP:0040283	ORPHA:96334
388015	RTL1	HP:0002263	Exaggerated cupid's bow	HP:0040283	ORPHA:254528
388015	RTL1	HP:0002240	Hepatomegaly	HP:0040283	ORPHA:96334
388015	RTL1	HP:0010655	Epiphyseal stippling	HP:0040283	ORPHA:96334
388015	RTL1	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:254531
388015	RTL1	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:96184
388015	RTL1	HP:0007010	Poor fine motor coordination	HP:0040283	ORPHA:254525
388015	RTL1	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:96184
388015	RTL1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:96334
388015	RTL1	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:254531
388015	RTL1	HP:0011968	Feeding difficulties	HP:0040281	ORPHA:254528
388015	RTL1	HP:0009826	Limb undergrowth	HP:0040282	ORPHA:96334
388015	RTL1	HP:0009832	Abnormal distal phalanx morphology of finger	HP:0040283	ORPHA:96334
388015	RTL1	HP:0009836	Broad distal phalanx of finger	HP:0040283	ORPHA:96334
388015	RTL1	HP:0010804	Tented upper lip vermilion	HP:0040283	ORPHA:96334
388015	RTL1	HP:0009824	Upper limb undergrowth	HP:0040283	ORPHA:96334
388015	RTL1	HP:0200055	Small hand	HP:0040281	ORPHA:254531
388015	RTL1	HP:0200055	Small hand	HP:0040281	ORPHA:254525
388015	RTL1	HP:0200055	Small hand	HP:0040281	ORPHA:96184
388015	RTL1	HP:0002307	Drooling	HP:0040283	ORPHA:96334
388015	RTL1	HP:0004904	Maturity-onset diabetes of the young	HP:0040283	ORPHA:96184
388015	RTL1	HP:0004904	Maturity-onset diabetes of the young	HP:0040283	ORPHA:254531
388015	RTL1	HP:0031878	Acromicria	HP:0040283	ORPHA:254525
388015	RTL1	HP:0004299	Hernia of the abdominal wall	HP:0040283	ORPHA:96334
388015	RTL1	HP:0001956	Truncal obesity	HP:0040282	ORPHA:96184
388015	RTL1	HP:0010034	Short 1st metacarpal	HP:0040283	ORPHA:96334
388015	RTL1	HP:0011344	Severe global developmental delay	HP:0040283	ORPHA:96334
388015	RTL1	HP:0011335	Frontal hirsutism	HP:0040282	ORPHA:96334
388015	RTL1	HP:0011343	Moderate global developmental delay	HP:0040283	ORPHA:96334
388015	RTL1	HP:0001999	Abnormal facial shape	HP:0040281	ORPHA:96334
388015	RTL1	HP:0004322	Short stature	HP:0040283	ORPHA:96334
388015	RTL1	HP:0004322	Short stature	HP:0040282	ORPHA:96184
388015	RTL1	HP:0003049	Ulnar deviation of the wrist	HP:0040283	ORPHA:96334
388015	RTL1	HP:0012745	Short palpebral fissure	HP:0040282	ORPHA:96334
388015	RTL1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:254528
388015	RTL1	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:96334
388015	RTL1	HP:0000750	Delayed speech and language development	HP:0040282	ORPHA:96184
388015	RTL1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:254531
388015	RTL1	HP:0000750	Delayed speech and language development	HP:0040281	ORPHA:254525
388015	RTL1	HP:0000729	Autistic behavior	HP:0040283	ORPHA:254531
388015	RTL1	HP:0011471	Gastrostomy tube feeding in infancy	HP:0040283	ORPHA:96334
388015	RTL1	HP:0012785	Flexion contracture of finger	HP:0040283	ORPHA:254528
388015	RTL1	HP:0000774	Narrow chest	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000773	Short ribs	HP:0040283	ORPHA:96334
388015	RTL1	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:254531
388015	RTL1	HP:0003124	Hypercholesterolemia	HP:0040283	ORPHA:254531
388015	RTL1	HP:0003124	Hypercholesterolemia	HP:0040283	ORPHA:96184
388015	RTL1	HP:0004415	Pulmonary artery stenosis	HP:0040283	ORPHA:96334
388015	RTL1	HP:0005736	Short tibia	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000919	Abnormality of the costochondral junction	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000924	Abnormality of the skeletal system	HP:0040282	ORPHA:96334
388015	RTL1	HP:0003186	Inverted nipples	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000907	Anterior rib cupping	HP:0040283	ORPHA:96334
388015	RTL1	HP:0004482	Relative macrocephaly	HP:0040283	ORPHA:254525
388015	RTL1	HP:0000882	Hypoplastic scapulae	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000890	Long clavicles	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000884	Prominent sternum	HP:0040283	ORPHA:254528
388015	RTL1	HP:0000884	Prominent sternum	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000817	Reduced eye contact	HP:0040283	ORPHA:254531
388015	RTL1	HP:0000826	Precocious puberty	HP:0040282	ORPHA:254531
388015	RTL1	HP:0000826	Precocious puberty	HP:0040281	ORPHA:96184
388015	RTL1	HP:0000826	Precocious puberty	HP:0040283	ORPHA:254525
388015	RTL1	HP:0040024	Clinodactyly of the 3rd finger	HP:0040283	ORPHA:96334
388015	RTL1	HP:0003241	External genital hypoplasia	HP:0040283	ORPHA:96334
388015	RTL1	HP:0010301	Spinal dysraphism	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000973	Cutis laxa	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000954	Single transverse palmar crease	HP:0040283	ORPHA:254528
388015	RTL1	HP:0045025	Narrow palpebral fissure	HP:0040283	ORPHA:254528
388015	RTL1	HP:0000946	Hypoplastic ilia	HP:0040283	ORPHA:96334
388015	RTL1	HP:0012284	Small proximal tibial epiphyses	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000286	Epicanthus	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000286	Epicanthus	HP:0040283	ORPHA:254528
388015	RTL1	HP:0000278	Retrognathia	HP:0040282	ORPHA:96334
388015	RTL1	HP:0000278	Retrognathia	HP:0040283	ORPHA:254528
388015	RTL1	HP:0000293	Full cheeks	HP:0040283	ORPHA:96184
388015	RTL1	HP:0000260	Wide anterior fontanel	HP:0040283	ORPHA:96334
388015	RTL1	HP:0030084	Clinodactyly	HP:0040283	ORPHA:254531
388015	RTL1	HP:0030084	Clinodactyly	HP:0040283	ORPHA:254525
388015	RTL1	HP:0030084	Clinodactyly	HP:0040283	ORPHA:96184
388015	RTL1	HP:0005054	Metaphyseal spurs	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000252	Microcephaly	HP:0040283	ORPHA:96334
388015	RTL1	HP:0002884	Hepatoblastoma	HP:0040283	ORPHA:96334
388015	RTL1	HP:0001548	Overgrowth	HP:0040283	ORPHA:254534
388015	RTL1	HP:0001548	Overgrowth	HP:0040284	ORPHA:96334
388015	RTL1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:254528
388015	RTL1	HP:0002878	Respiratory failure	HP:0040282	ORPHA:96334
388015	RTL1	HP:0000218	High palate	HP:0040283	ORPHA:96184
388015	RTL1	HP:0000218	High palate	HP:0040283	ORPHA:254531
388015	RTL1	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:96334
388015	RTL1	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:254534
388015	RTL1	HP:0001561	Polyhydramnios	HP:0040281	ORPHA:254528
388015	RTL1	HP:0001540	Diastasis recti	HP:0040282	ORPHA:254534
388015	RTL1	HP:0001540	Diastasis recti	HP:0040282	ORPHA:254528
388015	RTL1	HP:0001540	Diastasis recti	HP:0040282	ORPHA:96334
388015	RTL1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:254534
388015	RTL1	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:254528
388015	RTL1	HP:0001539	Omphalocele	HP:0040283	ORPHA:254534
388015	RTL1	HP:0001539	Omphalocele	HP:0040283	ORPHA:254528
388015	RTL1	HP:0001539	Omphalocele	HP:0040283	ORPHA:96334
388015	RTL1	HP:0001538	Protuberant abdomen	HP:0040283	ORPHA:96334
388015	RTL1	HP:0002866	Hypoplastic iliac wing	HP:0040282	ORPHA:96334
388015	RTL1	HP:0001520	Large for gestational age	HP:0040282	ORPHA:254534
388015	RTL1	HP:0001520	Large for gestational age	HP:0040283	ORPHA:96334
388015	RTL1	HP:0001518	Small for gestational age	HP:0040283	ORPHA:254534
388015	RTL1	HP:0001518	Small for gestational age	HP:0040282	ORPHA:96184
388015	RTL1	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:254531
388015	RTL1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:254525
388015	RTL1	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:254528
388015	RTL1	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:96184
388015	RTL1	HP:0001511	Intrauterine growth retardation	HP:0040284	ORPHA:96334
388015	RTL1	HP:0001510	Growth delay	HP:0040282	ORPHA:96334
388015	RTL1	HP:0001513	Obesity	HP:0040282	ORPHA:254531
388015	RTL1	HP:0001513	Obesity	HP:0040283	ORPHA:254525
388015	RTL1	HP:0001513	Obesity	HP:0040282	ORPHA:96184
388015	RTL1	HP:0012385	Camptodactyly	HP:0040283	ORPHA:96334
388015	RTL1	HP:0012385	Camptodactyly	HP:0040283	ORPHA:254528
388015	RTL1	HP:0005257	Thoracic hypoplasia	HP:0040281	ORPHA:254534
388015	RTL1	HP:0005257	Thoracic hypoplasia	HP:0040281	ORPHA:254528
388015	RTL1	HP:0005257	Thoracic hypoplasia	HP:0040282	ORPHA:96334
388015	RTL1	HP:0006591	Absent glenoid fossa	HP:0040283	ORPHA:96334
388015	RTL1	HP:0005268	Miscarriage	HP:0040282	ORPHA:96334
388015	RTL1	HP:0002937	Hemivertebrae	HP:0040283	ORPHA:96334
388015	RTL1	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:254528
388015	RTL1	HP:0001601	Laryngomalacia	HP:0040283	ORPHA:96334
388015	RTL1	HP:0001615	Hoarse cry	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:254525
388015	RTL1	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000341	Narrow forehead	HP:0040283	ORPHA:254528
388015	RTL1	HP:0000343	Long philtrum	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000337	Broad forehead	HP:0040283	ORPHA:254528
388015	RTL1	HP:0000347	Micrognathia	HP:0040283	ORPHA:96184
388015	RTL1	HP:0000347	Micrognathia	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000347	Micrognathia	HP:0040283	ORPHA:254531
388015	RTL1	HP:0000347	Micrognathia	HP:0040283	ORPHA:254525
388015	RTL1	HP:0002982	Tibial bowing	HP:0040283	ORPHA:96334
388015	RTL1	HP:0012303	Abnormal aortic arch morphology	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000327	Hypoplasia of the maxilla	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000322	Short philtrum	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000322	Short philtrum	HP:0040283	ORPHA:254531
388015	RTL1	HP:0000322	Short philtrum	HP:0040283	ORPHA:96184
388015	RTL1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:254534
388015	RTL1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:96334
388015	RTL1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:254534
388015	RTL1	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:254525
388015	RTL1	HP:0001622	Premature birth	HP:0040282	ORPHA:96334
388015	RTL1	HP:0001622	Premature birth	HP:0040282	ORPHA:96184
388015	RTL1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:96334
388015	RTL1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000303	Mandibular prognathia	HP:0040283	ORPHA:96334
388015	RTL1	HP:0006610	Wide intermamillary distance	HP:0040283	ORPHA:96334
388015	RTL1	HP:0006665	Coat hanger sign of ribs	HP:0040281	ORPHA:254534
388015	RTL1	HP:0006665	Coat hanger sign of ribs	HP:0040280	ORPHA:96334
388015	RTL1	HP:0006665	Coat hanger sign of ribs	HP:0040281	ORPHA:254528
388015	RTL1	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:254531
388015	RTL1	HP:0000403	Recurrent otitis media	HP:0040283	ORPHA:96184
388015	RTL1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:254528
388015	RTL1	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:96184
388015	RTL1	HP:0005280	Depressed nasal bridge	HP:0040282	ORPHA:96334
388015	RTL1	HP:0012471	Thick vermilion border	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000490	Deeply set eye	HP:0040283	ORPHA:96334
388015	RTL1	HP:0001792	Small nail	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:254528
388015	RTL1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:96184
388015	RTL1	HP:0000463	Anteverted nares	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000470	Short neck	HP:0040282	ORPHA:96334
388015	RTL1	HP:0001773	Short foot	HP:0040281	ORPHA:254531
388015	RTL1	HP:0001773	Short foot	HP:0040281	ORPHA:254525
388015	RTL1	HP:0001773	Short foot	HP:0040281	ORPHA:96184
388015	RTL1	HP:0012428	Prominent calcaneus	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000445	Wide nose	HP:0040283	ORPHA:254531
388015	RTL1	HP:0000445	Wide nose	HP:0040283	ORPHA:96184
388015	RTL1	HP:0000445	Wide nose	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000431	Wide nasal bridge	HP:0040283	ORPHA:96334
388015	RTL1	HP:0001845	Overlapping toe	HP:0040283	ORPHA:254528
388015	RTL1	HP:0001840	Metatarsus adductus	HP:0040283	ORPHA:96334
388015	RTL1	HP:0000581	Blepharophimosis	HP:0040283	ORPHA:96334
388015	RTL1	HP:0011220	Prominent forehead	HP:0040282	ORPHA:254531
388015	RTL1	HP:0011220	Prominent forehead	HP:0040282	ORPHA:254525
388015	RTL1	HP:0011220	Prominent forehead	HP:0040283	ORPHA:96184
388015	RTL1	HP:0000565	Esotropia	HP:0040283	ORPHA:254528
388389	DNAAF19	HP:0025177	Peribronchovascular interstitial thickening	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0002566	Intestinal malrotation	HP:0040284	ORPHA:244
388389	DNAAF19	HP:0001217	Clubbing	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0000007	Autosomal recessive inheritance	-	OMIM:614679
388389	DNAAF19	HP:0002643	Neonatal respiratory distress	HP:0040282	ORPHA:244
388389	DNAAF19	HP:0000119	Abnormality of the genitourinary system	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0032543	Lithoptysis	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0031245	Productive cough	HP:0040282	ORPHA:244
388389	DNAAF19	HP:0002011	Morphological central nervous system abnormality	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0100582	Nasal polyposis	HP:0040282	ORPHA:244
388389	DNAAF19	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:244
388389	DNAAF19	HP:0002110	Bronchiectasis	-	OMIM:614679
388389	DNAAF19	HP:0002110	Bronchiectasis	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0008222	Female infertility	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0003577	Congenital onset	-	OMIM:614679
388389	DNAAF19	HP:0002257	Chronic rhinitis	HP:0040282	ORPHA:244
388389	DNAAF19	HP:0002257	Chronic rhinitis	4/11	OMIM:614679
388389	DNAAF19	HP:0002205	Recurrent respiratory infections	5/11	OMIM:614679
388389	DNAAF19	HP:0100750	Atelectasis	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0032016	Abnormal sputum	HP:0040282	ORPHA:244
388389	DNAAF19	HP:0011947	Respiratory tract infection	HP:0040282	ORPHA:244
388389	DNAAF19	HP:0010772	Anomalous pulmonary venous return	HP:0040284	ORPHA:244
388389	DNAAF19	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0012735	Cough	-	OMIM:614679
388389	DNAAF19	HP:0000750	Delayed speech and language development	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0000924	Abnormality of the skeletal system	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0011539	Atrial situs ambiguous	HP:0040284	ORPHA:244
388389	DNAAF19	HP:0011535	Abnormal atrial arrangement	HP:0040284	ORPHA:244
388389	DNAAF19	HP:0030828	Wheezing	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0003251	Male infertility	HP:0040282	ORPHA:244
388389	DNAAF19	HP:0011617	Pulmonary situs ambiguus	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0025576	Abnormal inferior vena cava morphology	HP:0040284	ORPHA:244
388389	DNAAF19	HP:0012265	Ciliary dyskinesia	-	OMIM:614679
388389	DNAAF19	HP:0012255	Dynein arm defect of respiratory motile cilia	6/6	OMIM:614679
388389	DNAAF19	HP:0000238	Hydrocephalus	HP:0040284	ORPHA:244
388389	DNAAF19	HP:0012206	Abnormal sperm motility	HP:0040282	ORPHA:244
388389	DNAAF19	HP:0002878	Respiratory failure	HP:0040284	ORPHA:244
388389	DNAAF19	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:244
388389	DNAAF19	HP:0006536	Airway obstruction	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0001696	Situs inversus totalis	4/11	OMIM:614679
388389	DNAAF19	HP:0001696	Situs inversus totalis	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0000365	Hearing impairment	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0001669	Transposition of the great arteries	HP:0040284	ORPHA:244
388389	DNAAF19	HP:0031456	Ectopic pregnancy	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0001651	Dextrocardia	3/11	OMIM:614679
388389	DNAAF19	HP:0001627	Abnormal heart morphology	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0005301	Persistent left superior vena cava	HP:0040284	ORPHA:244
388389	DNAAF19	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:244
388389	DNAAF19	HP:0000403	Recurrent otitis media	1/11	OMIM:614679
388389	DNAAF19	HP:0000405	Conductive hearing impairment	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0001719	Double outlet right ventricle	HP:0040284	ORPHA:244
388389	DNAAF19	HP:0011109	Chronic sinusitis	HP:0040282	ORPHA:244
388389	DNAAF19	HP:0011109	Chronic sinusitis	-	OMIM:614679
388389	DNAAF19	HP:0001746	Asplenia	HP:0040284	ORPHA:244
388389	DNAAF19	HP:0001748	Polysplenia	HP:0040284	ORPHA:244
388389	DNAAF19	HP:0001742	Nasal congestion	HP:0040282	ORPHA:244
388389	DNAAF19	HP:0005425	Recurrent sinopulmonary infections	HP:0040282	ORPHA:244
388389	DNAAF19	HP:0011274	Recurrent mycobacterial infections	HP:0040283	ORPHA:244
388389	DNAAF19	HP:0000510	Rod-cone dystrophy	HP:0040284	ORPHA:244
388403	YPEL2	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
388403	YPEL2	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
388403	YPEL2	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
388403	YPEL2	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
388403	YPEL2	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
388403	YPEL2	HP:0003621	Juvenile onset	8/19	OMIM:180100
388403	YPEL2	HP:0000662	Nyctalopia	26/28	OMIM:180100
388403	YPEL2	HP:0011463	Childhood onset	3/19	OMIM:180100
388403	YPEL2	HP:0011462	Young adult onset	8/19	OMIM:180100
388403	YPEL2	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
388403	YPEL2	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
388403	YPEL2	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
388403	YPEL2	HP:0000575	Scotoma	5/18	OMIM:180100
388403	YPEL2	HP:0000543	Optic disc pallor	1/1	OMIM:180100
388403	YPEL2	HP:0000545	Myopia	-	OMIM:180100
388531	RGS9BP	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
388531	RGS9BP	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
388531	RGS9BP	HP:0000007	Autosomal recessive inheritance	-	OMIM:620344
388531	RGS9BP	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
388531	RGS9BP	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
388531	RGS9BP	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
388531	RGS9BP	HP:0007663	Reduced visual acuity	5/5	OMIM:620344
388531	RGS9BP	HP:0003621	Juvenile onset	8/19	OMIM:180100
388531	RGS9BP	HP:0030512	Difficulty adjusting to changes in luminance	4/4	OMIM:620344
388531	RGS9BP	HP:0030511	Bradyopsia	5/5	OMIM:620344
388531	RGS9BP	HP:0000639	Nystagmus	0/4	OMIM:620344
388531	RGS9BP	HP:0000613	Photophobia	HP:0040281	ORPHA:75374
388531	RGS9BP	HP:0000613	Photophobia	5/5	OMIM:620344
388531	RGS9BP	HP:0000662	Nyctalopia	26/28	OMIM:180100
388531	RGS9BP	HP:0011463	Childhood onset	3/19	OMIM:180100
388531	RGS9BP	HP:0011463	Childhood onset	5/5	OMIM:620344
388531	RGS9BP	HP:0011462	Young adult onset	8/19	OMIM:180100
388531	RGS9BP	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
388531	RGS9BP	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
388531	RGS9BP	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
388531	RGS9BP	HP:0000505	Visual impairment	HP:0040281	ORPHA:75374
388531	RGS9BP	HP:0000575	Scotoma	5/18	OMIM:180100
388531	RGS9BP	HP:0000543	Optic disc pallor	1/1	OMIM:180100
388531	RGS9BP	HP:0000545	Myopia	-	OMIM:180100
388551	CEACAM16	HP:0000007	Autosomal recessive inheritance	-	OMIM:618410
388551	CEACAM16	HP:0000006	Autosomal dominant inheritance	-	OMIM:614614
388551	CEACAM16	HP:0003621	Juvenile onset	7/7	OMIM:618410
388551	CEACAM16	HP:0003621	Juvenile onset	10/10	OMIM:614614
388551	CEACAM16	HP:0000407	Sensorineural hearing impairment	7/7	OMIM:618410
388551	CEACAM16	HP:0000407	Sensorineural hearing impairment	10/10	OMIM:614614
388551	CEACAM16	HP:0001751	Abnormal vestibular function	0/7	OMIM:618410
388551	CEACAM16	HP:0001751	Abnormal vestibular function	0/10	OMIM:614614
388551	CEACAM16	HP:0000505	Visual impairment	0/10	OMIM:614614
388552	BLOC1S3	HP:0001107	Ocular albinism	6/6	OMIM:614077
388552	BLOC1S3	HP:0012043	Pendular nystagmus	5/6	OMIM:614077
388552	BLOC1S3	HP:0007513	Generalized hypopigmentation	4/6	OMIM:614077
388552	BLOC1S3	HP:0000007	Autosomal recessive inheritance	-	OMIM:614077
388552	BLOC1S3	HP:0007663	Reduced visual acuity	6/6	OMIM:614077
388552	BLOC1S3	HP:0500041	Myopic astigmatism	1/6	OMIM:614077
388552	BLOC1S3	HP:0000132	Menorrhagia	2/4	OMIM:614077
388552	BLOC1S3	HP:0003577	Congenital onset	7/12	OMIM:614077
388552	BLOC1S3	HP:0002218	Silver-gray hair	1/6	OMIM:614077
388552	BLOC1S3	HP:0003540	Impaired platelet aggregation	2/2	OMIM:614077
388552	BLOC1S3	HP:0001022	Albinism	6/6	OMIM:614077
388552	BLOC1S3	HP:0008499	High hypermetropia	1/6	OMIM:614077
388552	BLOC1S3	HP:0000639	Nystagmus	1/6	OMIM:614077
388552	BLOC1S3	HP:0000635	Blue irides	1/6	OMIM:614077
388552	BLOC1S3	HP:0000666	Horizontal nystagmus	-	OMIM:614077
388552	BLOC1S3	HP:0012805	Iris transillumination defect	-	OMIM:614077
388552	BLOC1S3	HP:0000978	Bruising susceptibility	2/6	OMIM:614077
388552	BLOC1S3	HP:0007750	Hypoplasia of the fovea	5/6	OMIM:614077
388552	BLOC1S3	HP:0000225	Gingival bleeding	-	OMIM:614077
388552	BLOC1S3	HP:0011003	High myopia	1/6	OMIM:614077
388552	BLOC1S3	HP:0030139	Excessive bleeding after a venipuncture	1/6	OMIM:614077
388552	BLOC1S3	HP:0030138	Excessive bleeding from superficial cuts	2/6	OMIM:614077
388552	BLOC1S3	HP:0000483	Astigmatism	2/6	OMIM:614077
388552	BLOC1S3	HP:0000421	Epistaxis	1/6	OMIM:614077
388552	BLOC1S3	HP:0031729	Moderate hypermetropia	1/6	OMIM:614077
388552	BLOC1S3	HP:0000577	Exotropia	2/6	OMIM:614077
388552	BLOC1S3	HP:0000565	Esotropia	1/6	OMIM:614077
388552	BLOC1S3	HP:0000540	Hypermetropia	2/6	OMIM:614077
388552	BLOC1S3	HP:0000543	Optic disc pallor	-	OMIM:614077
388552	BLOC1S3	HP:0000545	Myopia	-	OMIM:614077
388662	SLC6A17	HP:0002465	Poor speech	HP:0040282	ORPHA:457212
388662	SLC6A17	HP:0010864	Intellectual disability, severe	5/5	OMIM:616269
388662	SLC6A17	HP:0010864	Intellectual disability, severe	HP:0040282	ORPHA:457212
388662	SLC6A17	HP:0001263	Global developmental delay	5/5	OMIM:616269
388662	SLC6A17	HP:0001263	Global developmental delay	HP:0040282	ORPHA:457212
388662	SLC6A17	HP:0002540	Inability to walk	HP:0040283	ORPHA:457212
388662	SLC6A17	HP:0002540	Inability to walk	2/5	OMIM:616269
388662	SLC6A17	HP:0002515	Waddling gait	HP:0040282	ORPHA:457212
388662	SLC6A17	HP:0002515	Waddling gait	3/5	OMIM:616269
388662	SLC6A17	HP:0000073	Ureteral duplication	HP:0040283	ORPHA:457212
388662	SLC6A17	HP:0001344	Absent speech	2/5	OMIM:616269
388662	SLC6A17	HP:0000007	Autosomal recessive inheritance	-	OMIM:616269
388662	SLC6A17	HP:0001337	Tremor	5/5	OMIM:616269
388662	SLC6A17	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:457212
388662	SLC6A17	HP:0002705	High, narrow palate	HP:0040282	ORPHA:457212
388662	SLC6A17	HP:0003593	Infantile onset	5/5	OMIM:616269
388662	SLC6A17	HP:0002378	Hand tremor	HP:0040282	ORPHA:457212
388662	SLC6A17	HP:0200055	Small hand	3/5	OMIM:616269
388662	SLC6A17	HP:0005580	Duplication of renal pelvis	HP:0040283	ORPHA:457212
388662	SLC6A17	HP:0003002	Breast carcinoma	HP:0040283	ORPHA:457212
388662	SLC6A17	HP:0000748	Inappropriate laughter	HP:0040283	ORPHA:457212
388662	SLC6A17	HP:0000748	Inappropriate laughter	1/5	OMIM:616269
388662	SLC6A17	HP:0000742	Self-mutilation	HP:0040282	ORPHA:457212
388662	SLC6A17	HP:0000742	Self-mutilation	3/5	OMIM:616269
388662	SLC6A17	HP:0000718	Aggressive behavior	HP:0040282	ORPHA:457212
388662	SLC6A17	HP:0000718	Aggressive behavior	3/5	OMIM:616269
388662	SLC6A17	HP:0000712	Emotional lability	HP:0040282	ORPHA:457212
388662	SLC6A17	HP:0000712	Emotional lability	3/5	OMIM:616269
388662	SLC6A17	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:457212
388662	SLC6A17	HP:0045025	Narrow palpebral fissure	HP:0040282	ORPHA:457212
388662	SLC6A17	HP:0045025	Narrow palpebral fissure	5/5	OMIM:616269
388662	SLC6A17	HP:0002861	Melanoma	HP:0040283	ORPHA:457212
388662	SLC6A17	HP:0000343	Long philtrum	3/5	OMIM:616269
388662	SLC6A17	HP:0000343	Long philtrum	HP:0040282	ORPHA:457212
388662	SLC6A17	HP:0000303	Mandibular prognathia	HP:0040282	ORPHA:457212
388662	SLC6A17	HP:0000303	Mandibular prognathia	5/5	OMIM:616269
388662	SLC6A17	HP:0000400	Macrotia	HP:0040282	ORPHA:457212
388662	SLC6A17	HP:0000400	Macrotia	5/5	OMIM:616269
388662	SLC6A17	HP:0000574	Thick eyebrow	HP:0040283	ORPHA:457212
388698	FLG2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618084
388698	FLG2	HP:0003577	Congenital onset	1/1	OMIM:618084
388698	FLG2	HP:0001036	Parakeratosis	-	OMIM:618084
388698	FLG2	HP:0001047	Atopic dermatitis	3/3	OMIM:618084
388698	FLG2	HP:0000989	Pruritus	3/3	OMIM:618084
388698	FLG2	HP:0000958	Dry skin	3/3	OMIM:618084
388698	FLG2	HP:0040162	Orthokeratosis	1/1	OMIM:618084
388698	FLG2	HP:0040189	Scaling skin	3/3	OMIM:618084
388753	COA6	HP:0001252	Hypotonia	1/1	OMIM:616501
388753	COA6	HP:0000007	Autosomal recessive inheritance	-	OMIM:616501
388753	COA6	HP:0001319	Neonatal hypotonia	1/1	OMIM:616501
388753	COA6	HP:0002789	Tachypnea	1/1	OMIM:616501
388753	COA6	HP:0002045	Hypothermia	1/1	OMIM:616501
388753	COA6	HP:0003577	Congenital onset	1/1	OMIM:616501
388753	COA6	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:616501
388753	COA6	HP:0001942	Metabolic acidosis	1/1	OMIM:616501
388753	COA6	HP:0012664	Reduced left ventricular ejection fraction	1/1	OMIM:616501
388753	COA6	HP:0030682	Left ventricular noncompaction	1/1	OMIM:616501
388753	COA6	HP:0003128	Lactic acidosis	1/1	OMIM:616501
388753	COA6	HP:0005180	Tricuspid regurgitation	1/1	OMIM:616501
388753	COA6	HP:0001643	Patent ductus arteriosus	1/1	OMIM:616501
388753	COA6	HP:0000331	Short chin	1/1	OMIM:616501
388753	COA6	HP:0001659	Aortic regurgitation	1/1	OMIM:616501
388753	COA6	HP:0001639	Hypertrophic cardiomyopathy	1/1	OMIM:616501
388939	PCARE	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
388939	PCARE	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
388939	PCARE	HP:0000007	Autosomal recessive inheritance	-	OMIM:613428
388939	PCARE	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
388939	PCARE	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
388939	PCARE	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
388939	PCARE	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
388939	PCARE	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
388939	PCARE	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
388939	PCARE	HP:0001099	Fundus atrophy	-	OMIM:613428
388939	PCARE	HP:0003621	Juvenile onset	8/19	OMIM:180100
388939	PCARE	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
388939	PCARE	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
388939	PCARE	HP:0000618	Blindness	HP:0040281	ORPHA:791
388939	PCARE	HP:0000613	Photophobia	HP:0040281	ORPHA:791
388939	PCARE	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
388939	PCARE	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
388939	PCARE	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
388939	PCARE	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
388939	PCARE	HP:0000662	Nyctalopia	26/28	OMIM:180100
388939	PCARE	HP:0000662	Nyctalopia	-	OMIM:613428
388939	PCARE	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
388939	PCARE	HP:0011463	Childhood onset	3/19	OMIM:180100
388939	PCARE	HP:0011462	Young adult onset	8/19	OMIM:180100
388939	PCARE	HP:0030786	Photopsia	HP:0040283	ORPHA:791
388939	PCARE	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
388939	PCARE	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
388939	PCARE	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
388939	PCARE	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
388939	PCARE	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
388939	PCARE	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
388939	PCARE	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
388939	PCARE	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:613428
388939	PCARE	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
388939	PCARE	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
388939	PCARE	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:613428
388939	PCARE	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
388939	PCARE	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
388939	PCARE	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
388939	PCARE	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
388939	PCARE	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
388939	PCARE	HP:0000510	Rod-cone dystrophy	-	OMIM:613428
388939	PCARE	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
388939	PCARE	HP:0000512	Abnormal electroretinogram	-	OMIM:613428
388939	PCARE	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
388939	PCARE	HP:0000505	Visual impairment	-	OMIM:613428
388939	PCARE	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
388939	PCARE	HP:0000575	Scotoma	5/18	OMIM:180100
388939	PCARE	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
388939	PCARE	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
388939	PCARE	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
388939	PCARE	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
388939	PCARE	HP:0000543	Optic disc pallor	1/1	OMIM:180100
388939	PCARE	HP:0000545	Myopia	-	OMIM:180100
388962	BOLA3	HP:0002421	Poor head control	-	OMIM:614299
388962	BOLA3	HP:0002415	Leukodystrophy	-	OMIM:614299
388962	BOLA3	HP:0001290	Generalized hypotonia	-	OMIM:614299
388962	BOLA3	HP:0001254	Lethargy	1/1	OMIM:614299
388962	BOLA3	HP:0001250	Seizure	1/1	OMIM:614299
388962	BOLA3	HP:0001251	Ataxia	HP:0040283	OMIM:614299
388962	BOLA3	HP:0001263	Global developmental delay	1/1	OMIM:614299
388962	BOLA3	HP:0001257	Spasticity	-	OMIM:614299
388962	BOLA3	HP:0500230	Increased CSF glycine concentration	1/1	OMIM:614299
388962	BOLA3	HP:0001324	Muscle weakness	-	OMIM:614299
388962	BOLA3	HP:0000007	Autosomal recessive inheritance	-	OMIM:614299
388962	BOLA3	HP:0001336	Myoclonus	HP:0040283	OMIM:614299
388962	BOLA3	HP:6000829	Reduced tissue glycine cleavage enzyme activity	-	OMIM:614299
388962	BOLA3	HP:0008972	Decreased activity of mitochondrial respiratory chain	-	OMIM:614299
388962	BOLA3	HP:0002789	Tachypnea	1/1	OMIM:614299
388962	BOLA3	HP:0002013	Vomiting	-	OMIM:614299
388962	BOLA3	HP:0002098	Respiratory distress	1/1	OMIM:614299
388962	BOLA3	HP:0002093	Respiratory insufficiency	-	OMIM:614299
388962	BOLA3	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:614299
388962	BOLA3	HP:0002154	Hyperglycinemia	1/1	OMIM:614299
388962	BOLA3	HP:0011924	Decreased activity of mitochondrial complex III	1/1	OMIM:614299
388962	BOLA3	HP:0011923	Decreased activity of mitochondrial complex I	1/1	OMIM:614299
388962	BOLA3	HP:0003593	Infantile onset	1/1	OMIM:614299
388962	BOLA3	HP:0002240	Hepatomegaly	1/1	OMIM:614299
388962	BOLA3	HP:0200134	Epileptic encephalopathy	1/1	OMIM:614299
388962	BOLA3	HP:0008314	Decreased activity of mitochondrial complex II	1/1	OMIM:614299
388962	BOLA3	HP:0002376	Developmental regression	-	OMIM:614299
388962	BOLA3	HP:0000648	Optic atrophy	HP:0040283	OMIM:614299
388962	BOLA3	HP:0003128	Lactic acidosis	1/1	OMIM:614299
388962	BOLA3	HP:0000975	Hyperhidrosis	1/1	OMIM:614299
388962	BOLA3	HP:0002878	Respiratory failure	-	OMIM:614299
388962	BOLA3	HP:0001522	Death in infancy	1/1	OMIM:614299
388962	BOLA3	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1/1	OMIM:614299
388962	BOLA3	HP:0001644	Dilated cardiomyopathy	1/1	OMIM:614299
388962	BOLA3	HP:0001639	Hypertrophic cardiomyopathy	-	OMIM:614299
388962	BOLA3	HP:0000505	Visual impairment	HP:0040283	OMIM:614299
389207	GRXCR1	HP:0000007	Autosomal recessive inheritance	-	OMIM:613285
389207	GRXCR1	HP:0003577	Congenital onset	10/10	OMIM:613285
389207	GRXCR1	HP:0000365	Hearing impairment	10/10	OMIM:613285
389207	GRXCR1	HP:0000408	Progressive sensorineural hearing impairment	3/10	OMIM:613285
389207	GRXCR1	HP:0001751	Abnormal vestibular function	0/4	OMIM:613285
389421	LIN28B	HP:0001251	Ataxia	HP:0040284	ORPHA:635
389421	LIN28B	HP:0001336	Myoclonus	HP:0040284	ORPHA:635
389421	LIN28B	HP:0002653	Bone pain	HP:0040283	ORPHA:635
389421	LIN28B	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:635
389421	LIN28B	HP:0001482	Subcutaneous nodule	HP:0040283	ORPHA:635
389421	LIN28B	HP:0002756	Pathologic fracture	HP:0040283	ORPHA:635
389421	LIN28B	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:635
389421	LIN28B	HP:0002028	Chronic diarrhea	HP:0040282	ORPHA:635
389421	LIN28B	HP:0003334	Elevated circulating catecholamine level	HP:0040282	ORPHA:635
389421	LIN28B	HP:0002098	Respiratory distress	HP:0040283	ORPHA:635
389421	LIN28B	HP:0002176	Spinal cord compression	HP:0040283	ORPHA:635
389421	LIN28B	HP:0010543	Opsoclonus	HP:0040284	ORPHA:635
389421	LIN28B	HP:0002277	Horner syndrome	HP:0040283	ORPHA:635
389421	LIN28B	HP:0011976	Elevated urinary catecholamine level	HP:0040281	ORPHA:635
389421	LIN28B	HP:0011977	Elevated urinary homovanillic acid	HP:0040283	ORPHA:635
389421	LIN28B	HP:0011978	Elevated urinary vanillylmandelic acid	HP:0040283	ORPHA:635
389421	LIN28B	HP:0001017	Anemic pallor	HP:0040283	ORPHA:635
389421	LIN28B	HP:0001945	Fever	HP:0040282	ORPHA:635
389421	LIN28B	HP:0001928	Abnormality of coagulation	HP:0040283	ORPHA:635
389421	LIN28B	HP:0001903	Anemia	HP:0040282	ORPHA:635
389421	LIN28B	HP:0031955	Antalgic gait	HP:0040283	ORPHA:635
389421	LIN28B	HP:0004375	Neoplasm of the nervous system	HP:0040281	ORPHA:635
389421	LIN28B	HP:0003006	Neuroblastoma	HP:0040281	ORPHA:635
389421	LIN28B	HP:0000737	Irritability	HP:0040283	ORPHA:635
389421	LIN28B	HP:0000822	Hypertension	HP:0040284	ORPHA:635
389421	LIN28B	HP:0003270	Abdominal distention	HP:0040282	ORPHA:635
389421	LIN28B	HP:0003281	Increased circulating ferritin concentration	HP:0040283	ORPHA:635
389421	LIN28B	HP:0025553	Periorbital ecchymosis with tarsal plate sparing	HP:0040284	ORPHA:635
389421	LIN28B	HP:0031500	Abdominal mass	HP:0040282	ORPHA:635
389421	LIN28B	HP:0012378	Fatigue	HP:0040282	ORPHA:635
389421	LIN28B	HP:0000520	Proptosis	HP:0040283	ORPHA:635
389421	LIN28B	HP:0001824	Weight loss	HP:0040282	ORPHA:635
389421	LIN28B	HP:0001892	Abnormal bleeding	HP:0040283	ORPHA:635
389421	LIN28B	HP:0001873	Thrombocytopenia	HP:0040282	ORPHA:635
389434	IYD	HP:0001254	Lethargy	HP:0040283	ORPHA:95716
389434	IYD	HP:0001252	Hypotonia	HP:0040283	ORPHA:95716
389434	IYD	HP:0001249	Intellectual disability	-	OMIM:274800
389434	IYD	HP:0001249	Intellectual disability	HP:0040283	ORPHA:95716
389434	IYD	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:95716
389434	IYD	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:95716
389434	IYD	HP:0008828	Delayed proximal femoral epiphyseal ossification	HP:0040282	ORPHA:95716
389434	IYD	HP:0000007	Autosomal recessive inheritance	-	OMIM:274800
389434	IYD	HP:0025483	Abnormal circulating thyroglobulin concentration	HP:0040283	ORPHA:95716
389434	IYD	HP:0025482	Positive perchlorate discharge test	HP:0040283	ORPHA:95716
389434	IYD	HP:0000158	Macroglossia	HP:0040283	ORPHA:95716
389434	IYD	HP:0031219	Reduced radioactive iodine uptake	HP:0040283	ORPHA:95716
389434	IYD	HP:0031220	Increased radioactive iodine uptake	HP:0040283	ORPHA:95716
389434	IYD	HP:0002019	Constipation	HP:0040282	ORPHA:95716
389434	IYD	HP:0002045	Hypothermia	HP:0040283	ORPHA:95716
389434	IYD	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:95716
389434	IYD	HP:0008263	Thyroid defect in oxidation and organification of iodide	HP:0040282	ORPHA:95716
389434	IYD	HP:0011437	Maternal autoimmune disease	-	ORPHA:95716
389434	IYD	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:95716
389434	IYD	HP:0004491	Large posterior fontanelle	HP:0040282	ORPHA:95716
389434	IYD	HP:0000851	Congenital hypothyroidism	HP:0040282	ORPHA:95716
389434	IYD	HP:0000853	Goiter	HP:0040282	ORPHA:95716
389434	IYD	HP:0000853	Goiter	-	OMIM:274800
389434	IYD	HP:0000821	Hypothyroidism	-	OMIM:274800
389434	IYD	HP:0003265	Neonatal hyperbilirubinemia	HP:0040283	ORPHA:95716
389434	IYD	HP:0000282	Facial edema	HP:0040283	ORPHA:95716
389434	IYD	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:95716
389434	IYD	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:95716
389434	IYD	HP:0001510	Growth delay	-	OMIM:274800
389434	IYD	HP:0031507	Decreased circulating T4 concentration	HP:0040281	ORPHA:95716
389434	IYD	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:95716
389434	IYD	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	HP:0040281	ORPHA:95716
389434	IYD	HP:0001662	Bradycardia	HP:0040283	ORPHA:95716
389434	IYD	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:95716
389434	IYD	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:95716
389549	FEZF1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:478
389549	FEZF1	HP:0001250	Seizure	HP:0040283	ORPHA:478
389549	FEZF1	HP:0001252	Hypotonia	HP:0040283	ORPHA:478
389549	FEZF1	HP:0001251	Ataxia	HP:0040283	ORPHA:478
389549	FEZF1	HP:0001260	Dysarthria	HP:0040283	ORPHA:478
389549	FEZF1	HP:0008734	Decreased testicular size	1/1	OMIM:146110
389549	FEZF1	HP:0008734	Decreased testicular size	3/3	OMIM:616030
389549	FEZF1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:478
389549	FEZF1	HP:0008736	Hypoplasia of penis	HP:0040281	ORPHA:478
389549	FEZF1	HP:0000044	Hypogonadotropic hypogonadism	2/2	OMIM:146110
389549	FEZF1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	ORPHA:478
389549	FEZF1	HP:0000054	Micropenis	1/1	OMIM:146110
389549	FEZF1	HP:0000054	Micropenis	3/3	OMIM:616030
389549	FEZF1	HP:0000054	Micropenis	HP:0040281	ORPHA:478
389549	FEZF1	HP:0000028	Cryptorchidism	-	OMIM:146110
389549	FEZF1	HP:0000028	Cryptorchidism	3/3	OMIM:616030
389549	FEZF1	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:478
389549	FEZF1	HP:0001324	Muscle weakness	HP:0040283	ORPHA:478
389549	FEZF1	HP:0000008	Abnormal morphology of female internal genitalia	HP:0040283	ORPHA:478
389549	FEZF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:146110
389549	FEZF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616030
389549	FEZF1	HP:0001335	Bimanual synkinesia	HP:0040283	ORPHA:478
389549	FEZF1	HP:0001337	Tremor	HP:0040283	ORPHA:478
389549	FEZF1	HP:0002652	Skeletal dysplasia	HP:0040283	ORPHA:478
389549	FEZF1	HP:0000175	Cleft palate	HP:0040283	ORPHA:478
389549	FEZF1	HP:0000144	Decreased fertility	HP:0040281	ORPHA:478
389549	FEZF1	HP:0000135	Hypogonadism	4/4	OMIM:616030
389549	FEZF1	HP:0002757	Recurrent fractures	HP:0040283	ORPHA:478
389549	FEZF1	HP:0000104	Renal agenesis	HP:0040283	ORPHA:478
389549	FEZF1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:478
389549	FEZF1	HP:0010550	Paraplegia	HP:0040283	ORPHA:478
389549	FEZF1	HP:0008214	Decreased serum estradiol	1/1	OMIM:616030
389549	FEZF1	HP:0002215	Sparse axillary hair	1/1	OMIM:146110
389549	FEZF1	HP:0002225	Sparse pubic hair	1/1	OMIM:146110
389549	FEZF1	HP:0009804	Tooth agenesis	HP:0040283	ORPHA:478
389549	FEZF1	HP:0100639	Erectile dysfunction	HP:0040281	ORPHA:478
389549	FEZF1	HP:0003621	Juvenile onset	2/2	OMIM:146110
389549	FEZF1	HP:0003621	Juvenile onset	1/4	OMIM:616030
389549	FEZF1	HP:0020159	Reduced response to gonadotropin-releasing hormone stimulation test	1/1	OMIM:616030
389549	FEZF1	HP:0000639	Nystagmus	HP:0040283	ORPHA:478
389549	FEZF1	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:478
389549	FEZF1	HP:0004349	Reduced bone mineral density	HP:0040282	ORPHA:478
389549	FEZF1	HP:0000771	Gynecomastia	0/1	OMIM:146110
389549	FEZF1	HP:0000771	Gynecomastia	HP:0040283	ORPHA:478
389549	FEZF1	HP:0011463	Childhood onset	3/4	OMIM:616030
389549	FEZF1	HP:0000789	Infertility	HP:0040283	OMIM:146110
389549	FEZF1	HP:0000786	Primary amenorrhea	1/1	OMIM:146110
389549	FEZF1	HP:0000786	Primary amenorrhea	1/1	OMIM:616030
389549	FEZF1	HP:0000786	Primary amenorrhea	HP:0040283	ORPHA:478
389549	FEZF1	HP:0004409	Hyposmia	HP:0040281	ORPHA:478
389549	FEZF1	HP:0004408	Abnormality of the sense of smell	0/2	OMIM:146110
389549	FEZF1	HP:0003187	Breast hypoplasia	HP:0040282	ORPHA:478
389549	FEZF1	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	HP:0040281	ORPHA:478
389549	FEZF1	HP:0000830	Anterior hypopituitarism	HP:0040281	ORPHA:478
389549	FEZF1	HP:0000823	Delayed puberty	HP:0040281	ORPHA:478
389549	FEZF1	HP:0040171	Decreased serum testosterone concentration	2/2	OMIM:616030
389549	FEZF1	HP:0008064	Ichthyosis	HP:0040283	ORPHA:478
389549	FEZF1	HP:0030016	Dyspareunia	HP:0040283	ORPHA:478
389549	FEZF1	HP:0001513	Obesity	HP:0040283	ORPHA:478
389549	FEZF1	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:478
389549	FEZF1	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:478
389549	FEZF1	HP:0000458	Anosmia	4/4	OMIM:616030
389549	FEZF1	HP:0000458	Anosmia	HP:0040281	ORPHA:478
389549	FEZF1	HP:0001763	Pes planus	HP:0040283	ORPHA:478
389549	FEZF1	HP:0001761	Pes cavus	HP:0040283	ORPHA:478
389549	FEZF1	HP:0000508	Ptosis	HP:0040283	ORPHA:478
389549	FEZF1	HP:0000505	Visual impairment	HP:0040283	ORPHA:478
389549	FEZF1	HP:0030344	Decreased circulating luteinizing hormone level	4/4	OMIM:616030
389549	FEZF1	HP:0030341	Decreased circulating follicle stimulating hormone concentration	4/4	OMIM:616030
389549	FEZF1	HP:0000551	Color vision defect	HP:0040283	ORPHA:478
389692	MAFA	HP:0000006	Autosomal dominant inheritance	-	OMIM:147630
389692	MAFA	HP:0012197	Insulinoma	10/24	OMIM:147630
389692	MAFA	HP:0005978	Type II diabetes mellitus	15/24	OMIM:147630
389692	MAFA	HP:0040270	Impaired glucose tolerance	2/24	OMIM:147630
389692	MAFA	HP:0008194	Multiple pancreatic beta-cell adenomas	-	OMIM:147630
389692	MAFA	HP:0003596	Middle age onset	11/24	OMIM:147630
389692	MAFA	HP:0003584	Late onset	2/24	OMIM:147630
389692	MAFA	HP:0001087	Developmental glaucoma	4/24	OMIM:147630
389692	MAFA	HP:0003621	Juvenile onset	1/24	OMIM:147630
389692	MAFA	HP:0011462	Young adult onset	10/24	OMIM:147630
389692	MAFA	HP:0000825	Hyperinsulinemic hypoglycemia	-	OMIM:147630
389692	MAFA	HP:0000519	Developmental cataract	4/24	OMIM:147630
389827	MYMK	HP:0001182	Tapered finger	-	OMIM:254940
389827	MYMK	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1358
389827	MYMK	HP:0002460	Distal muscle weakness	1/1	OMIM:254940
389827	MYMK	HP:0003701	Proximal muscle weakness	1/1	OMIM:254940
389827	MYMK	HP:0001290	Generalized hypotonia	-	OMIM:254940
389827	MYMK	HP:0001270	Motor delay	8/8	OMIM:254940
389827	MYMK	HP:0001250	Seizure	1/1	OMIM:254940
389827	MYMK	HP:0001252	Hypotonia	-	OMIM:254940
389827	MYMK	HP:0001252	Hypotonia	HP:0040281	ORPHA:1358
389827	MYMK	HP:0001249	Intellectual disability	0/8	OMIM:254940
389827	MYMK	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1358
389827	MYMK	HP:0001263	Global developmental delay	HP:0040283	OMIM:254940
389827	MYMK	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:1358
389827	MYMK	HP:0033628	Bowel irritability	1/1	OMIM:254940
389827	MYMK	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:1358
389827	MYMK	HP:0001371	Flexion contracture	-	OMIM:254940
389827	MYMK	HP:0001357	Plagiocephaly	-	OMIM:254940
389827	MYMK	HP:0000028	Cryptorchidism	3/3	OMIM:254940
389827	MYMK	HP:0000007	Autosomal recessive inheritance	-	OMIM:254940
389827	MYMK	HP:0002650	Scoliosis	5/9	OMIM:254940
389827	MYMK	HP:0002650	Scoliosis	HP:0040282	ORPHA:1358
389827	MYMK	HP:0000162	Glossoptosis	-	OMIM:254940
389827	MYMK	HP:0000162	Glossoptosis	HP:0040282	ORPHA:1358
389827	MYMK	HP:0000175	Cleft palate	2/8	OMIM:254940
389827	MYMK	HP:0000175	Cleft palate	HP:0040282	ORPHA:1358
389827	MYMK	HP:0000171	Microglossia	4/8	OMIM:254940
389827	MYMK	HP:0008998	Pectoralis hypoplasia	6/9	OMIM:254940
389827	MYMK	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1358
389827	MYMK	HP:0002020	Gastroesophageal reflux	-	OMIM:254940
389827	MYMK	HP:0002015	Dysphagia	1/1	OMIM:254940
389827	MYMK	HP:0003306	Spinal rigidity	1/1	OMIM:254940
389827	MYMK	HP:0002092	Pulmonary arterial hypertension	2/8	OMIM:254940
389827	MYMK	HP:0002093	Respiratory insufficiency	-	OMIM:254940
389827	MYMK	HP:0009465	Ulnar deviation of finger	HP:0040283	ORPHA:1358
389827	MYMK	HP:0002119	Ventriculomegaly	-	OMIM:254940
389827	MYMK	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:1358
389827	MYMK	HP:0003593	Infantile onset	-	OMIM:254940
389827	MYMK	HP:0100735	Hypertensive crisis	HP:0040283	ORPHA:1358
389827	MYMK	HP:0011968	Feeding difficulties	7/8	OMIM:254940
389827	MYMK	HP:0010628	Facial palsy	HP:0040281	ORPHA:1358
389827	MYMK	HP:0010628	Facial palsy	8/8	OMIM:254940
389827	MYMK	HP:0002365	Hypoplasia of the brainstem	-	OMIM:254940
389827	MYMK	HP:0003677	Slowly progressive	-	OMIM:254940
389827	MYMK	HP:0009751	Aplasia of the pectoralis major muscle	HP:0040283	ORPHA:1358
389827	MYMK	HP:0003621	Juvenile onset	1/1	OMIM:254940
389827	MYMK	HP:0006824	Cranial nerve paralysis	HP:0040282	ORPHA:1358
389827	MYMK	HP:0006829	Severe muscular hypotonia	-	OMIM:254940
389827	MYMK	HP:0006897	Abducens palsy	0/8	OMIM:254940
389827	MYMK	HP:0000634	Impaired ocular abduction	HP:0040281	ORPHA:1358
389827	MYMK	HP:0000602	Ophthalmoplegia	-	OMIM:254940
389827	MYMK	HP:0009004	Hypoplasia of the musculature	8/8	OMIM:254940
389827	MYMK	HP:0004322	Short stature	HP:0040282	ORPHA:1358
389827	MYMK	HP:0000807	Glanular hypospadias	HP:0040283	ORPHA:1358
389827	MYMK	HP:0003198	Myopathy	4/4	OMIM:254940
389827	MYMK	HP:0003198	Myopathy	HP:0040283	ORPHA:1358
389827	MYMK	HP:0003196	Short nose	HP:0040281	ORPHA:1358
389827	MYMK	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040281	ORPHA:1358
389827	MYMK	HP:0003236	Elevated circulating creatine kinase concentration	4/6	OMIM:254940
389827	MYMK	HP:0003202	Skeletal muscle atrophy	-	OMIM:254940
389827	MYMK	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:1358
389827	MYMK	HP:0000286	Epicanthus	-	OMIM:254940
389827	MYMK	HP:0000286	Epicanthus	HP:0040281	ORPHA:1358
389827	MYMK	HP:0000278	Retrognathia	8/8	OMIM:254940
389827	MYMK	HP:0012246	Oculomotor nerve palsy	-	OMIM:254940
389827	MYMK	HP:0000256	Macrocephaly	-	OMIM:254940
389827	MYMK	HP:0000252	Microcephaly	-	OMIM:254940
389827	MYMK	HP:0000252	Microcephaly	HP:0040282	ORPHA:1358
389827	MYMK	HP:0000218	High palate	7/9	OMIM:254940
389827	MYMK	HP:0000218	High palate	HP:0040282	ORPHA:1358
389827	MYMK	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:1358
389827	MYMK	HP:0030001	Lagophthalmos	1/1	OMIM:254940
389827	MYMK	HP:0001558	Decreased fetal movement	-	OMIM:254940
389827	MYMK	HP:0000211	Trismus	-	OMIM:254940
389827	MYMK	HP:0000201	Pierre-Robin sequence	HP:0040281	ORPHA:1358
389827	MYMK	HP:0000201	Pierre-Robin sequence	-	OMIM:254940
389827	MYMK	HP:0001508	Failure to thrive	-	OMIM:254940
389827	MYMK	HP:0001510	Growth delay	7/8	OMIM:254940
389827	MYMK	HP:0001510	Growth delay	HP:0040282	ORPHA:1358
389827	MYMK	HP:0001602	Laryngeal stenosis	HP:0040283	ORPHA:1358
389827	MYMK	HP:0001600	Abnormality of the larynx	HP:0040283	ORPHA:1358
389827	MYMK	HP:0001671	Abnormal cardiac septum morphology	-	OMIM:254940
389827	MYMK	HP:0000343	Long philtrum	HP:0040281	ORPHA:1358
389827	MYMK	HP:0000347	Micrognathia	9/9	OMIM:254940
389827	MYMK	HP:0000347	Micrognathia	HP:0040281	ORPHA:1358
389827	MYMK	HP:0030319	Weakness of facial musculature	1/1	OMIM:254940
389827	MYMK	HP:0000407	Sensorineural hearing impairment	1/1	OMIM:254940
389827	MYMK	HP:0005280	Depressed nasal bridge	-	OMIM:254940
389827	MYMK	HP:0000494	Downslanted palpebral fissures	-	OMIM:254940
389827	MYMK	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:1358
389827	MYMK	HP:0000463	Anteverted nares	8/8	OMIM:254940
389827	MYMK	HP:0000463	Anteverted nares	HP:0040281	ORPHA:1358
389827	MYMK	HP:0000455	Broad nasal tip	9/9	OMIM:254940
389827	MYMK	HP:0001762	Talipes equinovarus	-	OMIM:254940
389827	MYMK	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:1358
389827	MYMK	HP:0000518	Cataract	1/1	OMIM:254940
389827	MYMK	HP:0000508	Ptosis	6/8	OMIM:254940
389827	MYMK	HP:0000508	Ptosis	HP:0040281	ORPHA:1358
389827	MYMK	HP:0000501	Glaucoma	1/1	OMIM:254940
389856	USP27X	HP:0001249	Intellectual disability	-	OMIM:300984
389856	USP27X	HP:0001344	Absent speech	-	OMIM:300984
389856	USP27X	HP:0001419	X-linked recessive inheritance	-	OMIM:300984
389856	USP27X	HP:0000708	Atypical behavior	-	OMIM:300984
390594	KBTBD13	HP:0002483	Bulbar signs	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0003798	Nemaline bodies	HP:0040281	ORPHA:171439
390594	KBTBD13	HP:0003798	Nemaline bodies	-	OMIM:609273
390594	KBTBD13	HP:0003722	Neck flexor weakness	-	OMIM:609273
390594	KBTBD13	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0001270	Motor delay	HP:0040282	ORPHA:171439
390594	KBTBD13	HP:0001288	Gait disturbance	-	OMIM:609273
390594	KBTBD13	HP:0001288	Gait disturbance	HP:0040282	ORPHA:171439
390594	KBTBD13	HP:0001284	Areflexia	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:171439
390594	KBTBD13	HP:0002515	Waddling gait	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0003803	Type 1 muscle fiber predominance	HP:0040282	ORPHA:171439
390594	KBTBD13	HP:0001371	Flexion contracture	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0001349	Facial diplegia	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0000006	Autosomal dominant inheritance	-	OMIM:609273
390594	KBTBD13	HP:0002650	Scoliosis	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0002792	Reduced vital capacity	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0003306	Spinal rigidity	HP:0040282	ORPHA:171439
390594	KBTBD13	HP:0002067	Bradykinesia	HP:0040282	ORPHA:171439
390594	KBTBD13	HP:0002068	Neuromuscular dysphagia	HP:0040282	ORPHA:171439
390594	KBTBD13	HP:0008180	Mildly elevated creatine kinase	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0003458	EMG: myopathic abnormalities	HP:0040281	ORPHA:171439
390594	KBTBD13	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:171439
390594	KBTBD13	HP:0003552	Muscle stiffness	-	OMIM:609273
390594	KBTBD13	HP:0003551	Difficulty climbing stairs	-	OMIM:609273
390594	KBTBD13	HP:0003546	Exercise intolerance	-	OMIM:609273
390594	KBTBD13	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:171439
390594	KBTBD13	HP:0003557	Increased variability in muscle fiber diameter	HP:0040282	ORPHA:171439
390594	KBTBD13	HP:0007010	Poor fine motor coordination	-	ORPHA:171439
390594	KBTBD13	HP:0011968	Feeding difficulties	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0010628	Facial palsy	0/24	OMIM:609273
390594	KBTBD13	HP:0003691	Scapular winging	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0003690	Limb muscle weakness	HP:0040282	ORPHA:171439
390594	KBTBD13	HP:0003690	Limb muscle weakness	-	OMIM:609273
390594	KBTBD13	HP:0003677	Slowly progressive	-	OMIM:609273
390594	KBTBD13	HP:0002312	Clumsiness	HP:0040282	ORPHA:171439
390594	KBTBD13	HP:0009055	Generalized limb muscle atrophy	HP:0040282	ORPHA:171439
390594	KBTBD13	HP:0009058	Increased muscle lipid content	HP:0040282	ORPHA:171439
390594	KBTBD13	HP:0009046	Difficulty running	-	OMIM:609273
390594	KBTBD13	HP:0001989	Fetal akinesia sequence	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0011463	Childhood onset	42/42	OMIM:609273
390594	KBTBD13	HP:0000774	Narrow chest	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0003198	Myopathy	HP:0040281	ORPHA:171439
390594	KBTBD13	HP:0003198	Myopathy	-	OMIM:609273
390594	KBTBD13	HP:0003236	Elevated circulating creatine kinase concentration	0/42	OMIM:609273
390594	KBTBD13	HP:0003202	Skeletal muscle atrophy	-	OMIM:609273
390594	KBTBD13	HP:0000275	Narrow face	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0000276	Long face	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0002804	Arthrogryposis multiplex congenita	HP:0040284	ORPHA:171439
390594	KBTBD13	HP:0000218	High palate	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0001561	Polyhydramnios	HP:0040284	ORPHA:171439
390594	KBTBD13	HP:0001533	Slender build	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0000347	Micrognathia	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0000316	Hypertelorism	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0001623	Breech presentation	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0000467	Neck muscle weakness	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0001761	Pes cavus	HP:0040283	ORPHA:171439
390594	KBTBD13	HP:0000508	Ptosis	HP:0040284	ORPHA:171439
390595	UBAP1L	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:1872
390595	UBAP1L	HP:0007641	Dyschromatopsia	HP:0040282	ORPHA:1872
390595	UBAP1L	HP:0000639	Nystagmus	HP:0040283	ORPHA:1872
390595	UBAP1L	HP:0000613	Photophobia	HP:0040281	ORPHA:1872
390595	UBAP1L	HP:0000603	Central scotoma	HP:0040282	ORPHA:1872
390595	UBAP1L	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:1872
390595	UBAP1L	HP:0000662	Nyctalopia	HP:0040281	ORPHA:1872
390595	UBAP1L	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:1872
390595	UBAP1L	HP:0007737	Bone spicule pigmentation of the retina	HP:0040282	ORPHA:1872
390595	UBAP1L	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:1872
390595	UBAP1L	HP:0012508	Metamorphopsia	HP:0040283	ORPHA:1872
390595	UBAP1L	HP:0000529	Progressive visual loss	HP:0040282	ORPHA:1872
390595	UBAP1L	HP:0000505	Visual impairment	HP:0040283	ORPHA:1872
390595	UBAP1L	HP:0000551	Color vision defect	HP:0040282	ORPHA:1872
390595	UBAP1L	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:1872
391356	PTRHD1	HP:0003763	Bruxism	1/5	OMIM:620747
391356	PTRHD1	HP:0001288	Gait disturbance	5/5	OMIM:620747
391356	PTRHD1	HP:0001250	Seizure	1/7	OMIM:620747
391356	PTRHD1	HP:0001249	Intellectual disability	4/4	OMIM:620747
391356	PTRHD1	HP:0001260	Dysarthria	4/4	OMIM:620747
391356	PTRHD1	HP:0001263	Global developmental delay	4/4	OMIM:620747
391356	PTRHD1	HP:0001257	Spasticity	1/1	OMIM:620747
391356	PTRHD1	HP:0001347	Hyperreflexia	5/6	OMIM:620747
391356	PTRHD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:620747
391356	PTRHD1	HP:0001300	Parkinsonism	6/6	OMIM:620747
391356	PTRHD1	HP:0008944	Distal lower limb amyotrophy	2/2	OMIM:620747
391356	PTRHD1	HP:0002015	Dysphagia	1/2	OMIM:620747
391356	PTRHD1	HP:0002067	Bradykinesia	3/3	OMIM:620747
391356	PTRHD1	HP:0003390	Sensory axonal neuropathy	4/4	OMIM:620747
391356	PTRHD1	HP:0003487	Babinski sign	3/4	OMIM:620747
391356	PTRHD1	HP:0002174	Postural tremor	3/7	OMIM:620747
391356	PTRHD1	HP:0002172	Postural instability	4/4	OMIM:620747
391356	PTRHD1	HP:0100786	Hypersomnia	2/5	OMIM:620747
391356	PTRHD1	HP:0002396	Cogwheel rigidity	3/3	OMIM:620747
391356	PTRHD1	HP:0002362	Shuffling gait	1/1	OMIM:620747
391356	PTRHD1	HP:0002322	Resting tremor	6/7	OMIM:620747
391356	PTRHD1	HP:0032121	Froment sign	1/1	OMIM:620747
391356	PTRHD1	HP:0031825	Freezing of gait	1/1	OMIM:620747
391356	PTRHD1	HP:5200321	Amplification of sexual behavior	3/4	OMIM:620747
391356	PTRHD1	HP:0009027	Foot dorsiflexor weakness	1/1	OMIM:620747
391356	PTRHD1	HP:0000739	Anxiety	3/4	OMIM:620747
391356	PTRHD1	HP:0000736	Short attention span	1/1	OMIM:620747
391356	PTRHD1	HP:0000716	Depression	1/4	OMIM:620747
391356	PTRHD1	HP:0000711	Restlessness	2/2	OMIM:620747
391356	PTRHD1	HP:0011463	Childhood onset	4/4	OMIM:620747
391356	PTRHD1	HP:0000298	Mask-like facies	2/2	OMIM:620747
391356	PTRHD1	HP:0000514	Slow saccadic eye movements	1/2	OMIM:620747
392255	GDF6	HP:0001156	Brachydactyly	HP:0040284	OMIM:617898
392255	GDF6	HP:0001156	Brachydactyly	HP:0040281	ORPHA:3237
392255	GDF6	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
392255	GDF6	HP:0001141	Severely reduced visual acuity	HP:0040281	ORPHA:65
392255	GDF6	HP:0009911	Abnormal temporal bone morphology	1/2	OMIM:613703
392255	GDF6	HP:0032284	Ultra-low vision with retained motion projection	1/1	OMIM:615360
392255	GDF6	HP:0002414	Spina bifida	HP:0040283	ORPHA:2345
392255	GDF6	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
392255	GDF6	HP:0007291	Posterior fossa cyst	HP:0040283	OMIM:118100
392255	GDF6	HP:0001293	Cranial nerve compression	-	OMIM:131300
392255	GDF6	HP:0001291	Abnormal cranial nerve morphology	HP:0040283	ORPHA:2345
392255	GDF6	HP:0001270	Motor delay	HP:0040283	ORPHA:65
392255	GDF6	HP:0001250	Seizure	HP:0040282	ORPHA:65
392255	GDF6	HP:0001252	Hypotonia	HP:0040282	ORPHA:65
392255	GDF6	HP:0001252	Hypotonia	2/7	OMIM:615777
392255	GDF6	HP:0001249	Intellectual disability	HP:0040283	ORPHA:65
392255	GDF6	HP:0001249	Intellectual disability	5/7	OMIM:615777
392255	GDF6	HP:0001263	Global developmental delay	HP:0040283	ORPHA:65
392255	GDF6	HP:0001263	Global developmental delay	-	OMIM:615777
392255	GDF6	HP:0010984	Digenic inheritance	-	OMIM:613703
392255	GDF6	HP:0008678	Renal hypoplasia/aplasia	HP:0040283	ORPHA:2345
392255	GDF6	HP:0002515	Waddling gait	54/102	OMIM:131300
392255	GDF6	HP:0034980	Synkinesis	HP:0040283	ORPHA:2345
392255	GDF6	HP:0000086	Ectopic kidney	HP:0040283	ORPHA:2345
392255	GDF6	HP:0000077	Abnormality of the kidney	16/45	OMIM:118100
392255	GDF6	HP:0001387	Joint stiffness	HP:0040281	ORPHA:3237
392255	GDF6	HP:0001382	Joint hypermobility	-	OMIM:615777
392255	GDF6	HP:0002694	Sclerosis of skull base	-	OMIM:131300
392255	GDF6	HP:0008897	Postnatal growth retardation	-	OMIM:615777
392255	GDF6	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
392255	GDF6	HP:0001324	Muscle weakness	40/96	OMIM:131300
392255	GDF6	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
392255	GDF6	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
392255	GDF6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
392255	GDF6	HP:0000007	Autosomal recessive inheritance	-	OMIM:615360
392255	GDF6	HP:0001335	Bimanual synkinesia	9/50	OMIM:118100
392255	GDF6	HP:0000006	Autosomal dominant inheritance	-	OMIM:617898
392255	GDF6	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
392255	GDF6	HP:0000006	Autosomal dominant inheritance	-	OMIM:118100
392255	GDF6	HP:0000006	Autosomal dominant inheritance	-	OMIM:613094
392255	GDF6	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
392255	GDF6	HP:0000006	Autosomal dominant inheritance	-	OMIM:613703
392255	GDF6	HP:0002650	Scoliosis	HP:0040282	ORPHA:2345
392255	GDF6	HP:0002650	Scoliosis	12/14	OMIM:131300
392255	GDF6	HP:0002650	Scoliosis	30/50	OMIM:118100
392255	GDF6	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
392255	GDF6	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
392255	GDF6	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
392255	GDF6	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
392255	GDF6	HP:0000175	Cleft palate	HP:0040283	OMIM:118100
392255	GDF6	HP:0000175	Cleft palate	HP:0040283	ORPHA:2345
392255	GDF6	HP:0000175	Cleft palate	2/7	OMIM:615777
392255	GDF6	HP:0001483	Eye poking	HP:0040282	ORPHA:65
392255	GDF6	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
392255	GDF6	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
392255	GDF6	HP:0007633	Bilateral microphthalmos	HP:0040281	OMIM:613703
392255	GDF6	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:3237
392255	GDF6	HP:0000122	Unilateral renal agenesis	7/45	OMIM:118100
392255	GDF6	HP:0000119	Abnormality of the genitourinary system	HP:0040282	ORPHA:2345
392255	GDF6	HP:0002023	Anal atresia	HP:0040283	ORPHA:2345
392255	GDF6	HP:0005988	Congenital muscular torticollis	-	OMIM:118100
392255	GDF6	HP:0005988	Congenital muscular torticollis	HP:0040282	ORPHA:2345
392255	GDF6	HP:0005986	Limitation of neck motion	HP:0040281	ORPHA:2345
392255	GDF6	HP:0002084	Encephalocele	HP:0040282	ORPHA:65
392255	GDF6	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:2345
392255	GDF6	HP:0003388	Easy fatigability	36/76	OMIM:131300
392255	GDF6	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
392255	GDF6	HP:0004602	Cervical C2/C3 vertebral fusion	HP:0040281	OMIM:118100
392255	GDF6	HP:0004602	Cervical C2/C3 vertebral fusion	HP:0040281	ORPHA:2345
392255	GDF6	HP:0010469	Absent testis	-	OMIM:613094
392255	GDF6	HP:0003416	Spinal canal stenosis	HP:0040283	ORPHA:2345
392255	GDF6	HP:0002162	Low posterior hairline	HP:0040282	OMIM:118100
392255	GDF6	HP:0002162	Low posterior hairline	HP:0040281	ORPHA:2345
392255	GDF6	HP:0010579	Cone-shaped epiphysis	HP:0040282	ORPHA:3237
392255	GDF6	HP:0002269	Abnormality of neuronal migration	HP:0040282	ORPHA:65
392255	GDF6	HP:0008368	Tarsal synostosis	-	OMIM:617898
392255	GDF6	HP:0003510	Severe short stature	7/7	OMIM:615777
392255	GDF6	HP:0002315	Headache	-	OMIM:131300
392255	GDF6	HP:0002315	Headache	HP:0040282	ORPHA:2345
392255	GDF6	HP:0004976	Knee dislocation	6/7	OMIM:615777
392255	GDF6	HP:0009803	Short phalanx of finger	-	OMIM:615777
392255	GDF6	HP:0009773	Symphalangism affecting the phalanges of the hand	HP:0040281	ORPHA:3237
392255	GDF6	HP:0009763	Limb pain	63/92	OMIM:131300
392255	GDF6	HP:0003621	Juvenile onset	8/19	OMIM:180100
392255	GDF6	HP:0003621	Juvenile onset	-	OMIM:131300
392255	GDF6	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
392255	GDF6	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	HP:0040282	ORPHA:65
392255	GDF6	HP:0004279	Short palm	HP:0040281	ORPHA:3237
392255	GDF6	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
392255	GDF6	HP:0000639	Nystagmus	-	OMIM:613703
392255	GDF6	HP:0000639	Nystagmus	HP:0040282	ORPHA:65
392255	GDF6	HP:6001056	Out-toeing	-	OMIM:131300
392255	GDF6	HP:0000651	Diplopia	-	OMIM:131300
392255	GDF6	HP:0000613	Photophobia	HP:0040282	ORPHA:65
392255	GDF6	HP:0001956	Truncal obesity	2/7	OMIM:615777
392255	GDF6	HP:0001903	Anemia	HP:0040283	OMIM:131300
392255	GDF6	HP:0010049	Short metacarpal	-	OMIM:615777
392255	GDF6	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:65
392255	GDF6	HP:0000678	Dental crowding	-	OMIM:615777
392255	GDF6	HP:0000662	Nyctalopia	26/28	OMIM:180100
392255	GDF6	HP:0000670	Carious teeth	-	OMIM:131300
392255	GDF6	HP:0011304	Broad thumb	2/7	OMIM:615777
392255	GDF6	HP:0011304	Broad thumb	HP:0040282	ORPHA:3237
392255	GDF6	HP:0000668	Hypodontia	-	OMIM:615777
392255	GDF6	HP:0000664	Synophrys	-	OMIM:615777
392255	GDF6	HP:0005640	Abnormal vertebral segmentation and fusion	HP:0040281	ORPHA:2345
392255	GDF6	HP:0005640	Abnormal vertebral segmentation and fusion	HP:0040281	OMIM:118100
392255	GDF6	HP:0030680	Abnormal cardiovascular system morphology	21/505	OMIM:118100
392255	GDF6	HP:0030680	Abnormal cardiovascular system morphology	HP:0040283	ORPHA:2345
392255	GDF6	HP:0004397	Ectopic anus	HP:0040283	ORPHA:2345
392255	GDF6	HP:0004396	Poor appetite	-	OMIM:131300
392255	GDF6	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
392255	GDF6	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
392255	GDF6	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:65
392255	GDF6	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:2345
392255	GDF6	HP:0003043	Abnormal shoulder morphology	HP:0040282	ORPHA:2345
392255	GDF6	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
392255	GDF6	HP:0003026	Short long bone	7/7	OMIM:615777
392255	GDF6	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
392255	GDF6	HP:0000772	Abnormal rib morphology	HP:0040283	OMIM:118100
392255	GDF6	HP:0000772	Abnormal rib morphology	HP:0040282	ORPHA:2345
392255	GDF6	HP:0000767	Pectus excavatum	2/7	OMIM:615777
392255	GDF6	HP:0000768	Pectus carinatum	1/7	OMIM:615777
392255	GDF6	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
392255	GDF6	HP:0000750	Delayed speech and language development	-	OMIM:615777
392255	GDF6	HP:0000729	Autistic behavior	HP:0040283	ORPHA:65
392255	GDF6	HP:0000707	Abnormality of the nervous system	5/19	OMIM:118100
392255	GDF6	HP:0012795	Abnormal optic disc morphology	HP:0040281	ORPHA:65
392255	GDF6	HP:0011463	Childhood onset	3/19	OMIM:180100
392255	GDF6	HP:0011462	Young adult onset	8/19	OMIM:180100
392255	GDF6	HP:0011461	Fetal onset	7/7	OMIM:615777
392255	GDF6	HP:0000774	Narrow chest	2/7	OMIM:615777
392255	GDF6	HP:0000912	Sprengel anomaly	21/50	OMIM:118100
392255	GDF6	HP:0000912	Sprengel anomaly	HP:0040282	ORPHA:2345
392255	GDF6	HP:0000925	Abnormality of the vertebral column	HP:0040281	ORPHA:2345
392255	GDF6	HP:0000926	Platyspondyly	1/7	OMIM:615777
392255	GDF6	HP:0003180	Flat acetabular roof	-	OMIM:615777
392255	GDF6	HP:0004482	Relative macrocephaly	-	OMIM:615777
392255	GDF6	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
392255	GDF6	HP:0000823	Delayed puberty	-	OMIM:131300
392255	GDF6	HP:0000894	Short clavicles	-	OMIM:615777
392255	GDF6	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
392255	GDF6	HP:0003298	Spina bifida occulta	HP:0040282	ORPHA:2345
392255	GDF6	HP:0030833	Neck pain	HP:0040282	ORPHA:2345
392255	GDF6	HP:0100259	Postaxial polydactyly	1/3	OMIM:613094
392255	GDF6	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
392255	GDF6	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:65
392255	GDF6	HP:0000286	Epicanthus	1/7	OMIM:615777
392255	GDF6	HP:0000280	Coarse facial features	2/7	OMIM:615777
392255	GDF6	HP:0001597	Abnormal nail morphology	HP:0040283	ORPHA:3237
392255	GDF6	HP:0005107	Abnormal sacrum morphology	HP:0040283	ORPHA:2345
392255	GDF6	HP:0007766	Optic disc hypoplasia	-	OMIM:613703
392255	GDF6	HP:0007750	Hypoplasia of the fovea	-	OMIM:613703
392255	GDF6	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
392255	GDF6	HP:0002813	Abnormal limb bone morphology	HP:0040283	OMIM:118100
392255	GDF6	HP:0002827	Hip dislocation	3/7	OMIM:615777
392255	GDF6	HP:0000252	Microcephaly	-	OMIM:615777
392255	GDF6	HP:0002857	Genu valgum	-	OMIM:131300
392255	GDF6	HP:0001533	Slender build	-	OMIM:131300
392255	GDF6	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
392255	GDF6	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
392255	GDF6	HP:0007807	Optic nerve compression	-	OMIM:131300
392255	GDF6	HP:0012368	Flat face	7/7	OMIM:615777
392255	GDF6	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
392255	GDF6	HP:0000362	Otosclerosis	-	OMIM:617898
392255	GDF6	HP:0000365	Hearing impairment	HP:0040283	ORPHA:65
392255	GDF6	HP:0000365	Hearing impairment	HP:0040282	ORPHA:2345
392255	GDF6	HP:0000365	Hearing impairment	10/67	OMIM:131300
392255	GDF6	HP:0000365	Hearing impairment	20/24	OMIM:118100
392255	GDF6	HP:0000343	Long philtrum	1/7	OMIM:615777
392255	GDF6	HP:0011001	Increased bone mineral density	-	OMIM:131300
392255	GDF6	HP:0000311	Round face	2/7	OMIM:615777
392255	GDF6	HP:0000324	Facial asymmetry	HP:0040283	ORPHA:3237
392255	GDF6	HP:0000324	Facial asymmetry	-	OMIM:118100
392255	GDF6	HP:0000324	Facial asymmetry	HP:0040281	ORPHA:2345
392255	GDF6	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:2345
392255	GDF6	HP:0002970	Genu varum	-	OMIM:615777
392255	GDF6	HP:0000303	Mandibular prognathia	-	OMIM:131300
392255	GDF6	HP:0030325	Cervicomedullary schisis	-	OMIM:118100
392255	GDF6	HP:0000407	Sensorineural hearing impairment	8/24	OMIM:118100
392255	GDF6	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:3237
392255	GDF6	HP:0000405	Conductive hearing impairment	5/24	OMIM:118100
392255	GDF6	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
392255	GDF6	HP:0030211	Slow pupillary light response	HP:0040282	ORPHA:65
392255	GDF6	HP:0000470	Short neck	HP:0040281	OMIM:118100
392255	GDF6	HP:0000470	Short neck	HP:0040281	ORPHA:2345
392255	GDF6	HP:0000470	Short neck	1/7	OMIM:615777
392255	GDF6	HP:0000466	Limited neck range of motion	HP:0040281	OMIM:118100
392255	GDF6	HP:0000465	Webbed neck	-	OMIM:118100
392255	GDF6	HP:0000465	Webbed neck	HP:0040281	ORPHA:2345
392255	GDF6	HP:0012426	Optic disc drusen	HP:0040283	ORPHA:65
392255	GDF6	HP:0001769	Broad foot	-	OMIM:617898
392255	GDF6	HP:0001769	Broad foot	HP:0040283	OMIM:615777
392255	GDF6	HP:0001763	Pes planus	-	OMIM:617898
392255	GDF6	HP:0001763	Pes planus	1/7	OMIM:615777
392255	GDF6	HP:0000410	Mixed hearing impairment	5/24	OMIM:118100
392255	GDF6	HP:0000518	Cataract	HP:0040282	ORPHA:65
392255	GDF6	HP:0001845	Overlapping toe	-	OMIM:617898
392255	GDF6	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
392255	GDF6	HP:0001840	Metatarsus adductus	-	OMIM:615777
392255	GDF6	HP:0000512	Abnormal electroretinogram	HP:0040282	ORPHA:65
392255	GDF6	HP:0000520	Proptosis	2/4	OMIM:131300
392255	GDF6	HP:0000520	Proptosis	7/7	OMIM:615777
392255	GDF6	HP:0000505	Visual impairment	-	OMIM:613703
392255	GDF6	HP:0000575	Scotoma	5/18	OMIM:180100
392255	GDF6	HP:0000592	Blue sclerae	2/7	OMIM:615777
392255	GDF6	HP:0000589	Coloboma	1/3	OMIM:613094
392255	GDF6	HP:0000589	Coloboma	HP:0040281	OMIM:613703
392255	GDF6	HP:0000563	Keratoconus	HP:0040282	ORPHA:65
392255	GDF6	HP:0000568	Microphthalmia	HP:0040281	OMIM:613094
392255	GDF6	HP:0000540	Hypermetropia	HP:0040282	ORPHA:65
392255	GDF6	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
392255	GDF6	HP:0012514	Lower limb pain	4/4	OMIM:131300
392255	GDF6	HP:0000543	Optic disc pallor	HP:0040283	ORPHA:65
392255	GDF6	HP:0000543	Optic disc pallor	1/1	OMIM:180100
392255	GDF6	HP:0000545	Myopia	-	OMIM:180100
400569	MED11	HP:0001272	Cerebellar atrophy	3/7	OMIM:620327
400569	MED11	HP:0001263	Global developmental delay	3/3	OMIM:620327
400569	MED11	HP:0032398	Dysgyria	4/7	OMIM:620327
400569	MED11	HP:0002509	Limb hypertonia	4/7	OMIM:620327
400569	MED11	HP:0000028	Cryptorchidism	3/4	OMIM:620327
400569	MED11	HP:0000007	Autosomal recessive inheritance	-	OMIM:620327
400569	MED11	HP:0001337	Tremor	1/7	OMIM:620327
400569	MED11	HP:0001321	Cerebellar hypoplasia	1/7	OMIM:620327
400569	MED11	HP:0008936	Axial hypotonia	3/7	OMIM:620327
400569	MED11	HP:0000126	Hydronephrosis	1/6	OMIM:620327
400569	MED11	HP:0002120	Cerebral cortical atrophy	1/7	OMIM:620327
400569	MED11	HP:0002267	Exaggerated startle response	3/7	OMIM:620327
400569	MED11	HP:0003577	Congenital onset	6/6	OMIM:620327
400569	MED11	HP:0007068	Inferior cerebellar vermis hypoplasia	1/7	OMIM:620327
400569	MED11	HP:0002380	Fasciculations	1/7	OMIM:620327
400569	MED11	HP:0000639	Nystagmus	2/5	OMIM:620327
400569	MED11	HP:0003121	Limb joint contracture	4/4	OMIM:620327
400569	MED11	HP:0002878	Respiratory failure	6/6	OMIM:620327
400569	MED11	HP:0001511	Intrauterine growth retardation	3/7	OMIM:620327
400569	MED11	HP:0000365	Hearing impairment	3/3	OMIM:620327
400569	MED11	HP:0032794	Myoclonic seizure	4/4	OMIM:620327
400569	MED11	HP:0001643	Patent ductus arteriosus	1/6	OMIM:620327
400569	MED11	HP:0001655	Patent foramen ovale	1/6	OMIM:620327
400569	MED11	HP:0001631	Atrial septal defect	2/6	OMIM:620327
400569	MED11	HP:0000486	Strabismus	1/5	OMIM:620327
400569	MED11	HP:0012444	Brain atrophy	4/7	OMIM:620327
400569	MED11	HP:0000518	Cataract	1/5	OMIM:620327
400916	CHCHD10	HP:0002483	Bulbar signs	HP:0040284	ORPHA:276435
400916	CHCHD10	HP:0002493	Upper motor neuron dysfunction	-	ORPHA:276435
400916	CHCHD10	HP:0002463	Language impairment	HP:0040283	ORPHA:803
400916	CHCHD10	HP:0002460	Distal muscle weakness	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0002442	Dyscalculia	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:275872
400916	CHCHD10	HP:0007269	Spinal muscular atrophy	-	OMIM:615048
400916	CHCHD10	HP:0003722	Neck flexor weakness	-	OMIM:616209
400916	CHCHD10	HP:0003722	Neck flexor weakness	HP:0040282	ORPHA:457050
400916	CHCHD10	HP:0003701	Proximal muscle weakness	4/8	OMIM:615911
400916	CHCHD10	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0003700	Generalized amyotrophy	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0003710	Exercise-induced muscle cramps	HP:0040282	ORPHA:276435
400916	CHCHD10	HP:0001288	Gait disturbance	-	OMIM:615048
400916	CHCHD10	HP:0001288	Gait disturbance	HP:0040282	ORPHA:276435
400916	CHCHD10	HP:0001283	Bulbar palsy	-	OMIM:615911
400916	CHCHD10	HP:0001283	Bulbar palsy	HP:0040283	ORPHA:275872
400916	CHCHD10	HP:0001284	Areflexia	6/6	OMIM:615911
400916	CHCHD10	HP:0001284	Areflexia	5/5	OMIM:615048
400916	CHCHD10	HP:0001284	Areflexia	HP:0040282	ORPHA:276435
400916	CHCHD10	HP:0001251	Ataxia	5/8	OMIM:615911
400916	CHCHD10	HP:0001265	Hyporeflexia	-	OMIM:615048
400916	CHCHD10	HP:0001265	Hyporeflexia	-	OMIM:615911
400916	CHCHD10	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:275872
400916	CHCHD10	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:276435
400916	CHCHD10	HP:0001260	Dysarthria	8/8	OMIM:615911
400916	CHCHD10	HP:0001260	Dysarthria	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0001260	Dysarthria	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0001257	Spasticity	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0007373	Motor neuron atrophy	HP:0040281	ORPHA:803
400916	CHCHD10	HP:0007354	Amyotrophic lateral sclerosis	-	OMIM:615911
400916	CHCHD10	HP:0007354	Amyotrophic lateral sclerosis	HP:0040280	ORPHA:803
400916	CHCHD10	HP:0007340	Lower limb muscle weakness	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0002540	Inability to walk	HP:0040284	ORPHA:276435
400916	CHCHD10	HP:0003805	Rimmed vacuoles	HP:0040283	ORPHA:276435
400916	CHCHD10	HP:0033683	Jaw hyperreflexia	HP:0040283	ORPHA:803
400916	CHCHD10	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0001324	Muscle weakness	5/5	OMIM:615048
400916	CHCHD10	HP:0000011	Neurogenic bladder	1/8	OMIM:615911
400916	CHCHD10	HP:0001337	Tremor	HP:0040283	OMIM:615048
400916	CHCHD10	HP:0001337	Tremor	HP:0040283	ORPHA:276435
400916	CHCHD10	HP:0000006	Autosomal dominant inheritance	-	OMIM:615911
400916	CHCHD10	HP:0000006	Autosomal dominant inheritance	-	OMIM:615048
400916	CHCHD10	HP:0000006	Autosomal dominant inheritance	-	OMIM:616209
400916	CHCHD10	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:803
400916	CHCHD10	HP:0001308	Tongue fasciculations	HP:0040283	ORPHA:276435
400916	CHCHD10	HP:0001300	Parkinsonism	HP:0040283	OMIM:615911
400916	CHCHD10	HP:0001300	Parkinsonism	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0025425	Laryngospasm	HP:0040284	ORPHA:803
400916	CHCHD10	HP:0008994	Proximal muscle weakness in lower limbs	-	OMIM:616209
400916	CHCHD10	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:457050
400916	CHCHD10	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:276435
400916	CHCHD10	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040283	ORPHA:457050
400916	CHCHD10	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040283	ORPHA:276435
400916	CHCHD10	HP:0008981	Calf muscle hypertrophy	HP:0040283	OMIM:615048
400916	CHCHD10	HP:0008985	Increased intramuscular fat	HP:0040282	ORPHA:276435
400916	CHCHD10	HP:0008954	Intrinsic hand muscle atrophy	HP:0040283	ORPHA:276435
400916	CHCHD10	HP:0008955	Progressive distal muscular atrophy	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0002015	Dysphagia	6/8	OMIM:615911
400916	CHCHD10	HP:0002015	Dysphagia	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0002015	Dysphagia	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0002015	Dysphagia	HP:0040283	ORPHA:276435
400916	CHCHD10	HP:0003324	Generalized muscle weakness	HP:0040281	ORPHA:803
400916	CHCHD10	HP:0002086	Abnormality of the respiratory system	HP:0040284	ORPHA:276435
400916	CHCHD10	HP:0100543	Cognitive impairment	7/8	OMIM:615911
400916	CHCHD10	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0002094	Dyspnea	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:457050
400916	CHCHD10	HP:0003394	Muscle spasm	5/5	OMIM:615048
400916	CHCHD10	HP:0003394	Muscle spasm	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0002073	Progressive cerebellar ataxia	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0003376	Steppage gait	HP:0040283	ORPHA:803
400916	CHCHD10	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:457050
400916	CHCHD10	HP:0002145	Frontotemporal dementia	7/7	OMIM:615911
400916	CHCHD10	HP:0002145	Frontotemporal dementia	HP:0040281	ORPHA:275872
400916	CHCHD10	HP:0002145	Frontotemporal dementia	HP:0040283	ORPHA:803
400916	CHCHD10	HP:0003470	Paralysis	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0003487	Babinski sign	6/8	OMIM:615911
400916	CHCHD10	HP:0003487	Babinski sign	HP:0040283	ORPHA:275872
400916	CHCHD10	HP:0003487	Babinski sign	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0003484	Upper limb muscle weakness	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0002151	Increased circulating lactate concentration	-	OMIM:616209
400916	CHCHD10	HP:0002151	Increased circulating lactate concentration	HP:0040282	ORPHA:457050
400916	CHCHD10	HP:0002120	Cerebral cortical atrophy	1/6	OMIM:615911
400916	CHCHD10	HP:0003449	Cold-induced muscle cramps	HP:0040282	ORPHA:276435
400916	CHCHD10	HP:0002127	Abnormal upper motor neuron morphology	HP:0040281	ORPHA:275872
400916	CHCHD10	HP:0003458	EMG: myopathic abnormalities	HP:0040283	ORPHA:276435
400916	CHCHD10	HP:0003445	EMG: neuropathic changes	HP:0040282	ORPHA:276435
400916	CHCHD10	HP:0011924	Decreased activity of mitochondrial complex III	2/2	OMIM:616209
400916	CHCHD10	HP:0002186	Apraxia	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0002180	Neurodegeneration	HP:0040281	ORPHA:803
400916	CHCHD10	HP:0002171	Gliosis	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0010549	Weakness due to upper motor neuron dysfunction	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0003596	Middle age onset	5/7	OMIM:615911
400916	CHCHD10	HP:0003596	Middle age onset	4/5	OMIM:615048
400916	CHCHD10	HP:0002273	Tetraparesis	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0003584	Late onset	2/7	OMIM:615911
400916	CHCHD10	HP:0003546	Exercise intolerance	-	OMIM:616209
400916	CHCHD10	HP:0003546	Exercise intolerance	HP:0040282	ORPHA:457050
400916	CHCHD10	HP:0002283	Global brain atrophy	HP:0040283	ORPHA:275872
400916	CHCHD10	HP:0008347	Decreased activity of mitochondrial complex IV	2/2	OMIM:616209
400916	CHCHD10	HP:0008322	Abnormal mitochondrial morphology	HP:0040283	ORPHA:275872
400916	CHCHD10	HP:0010628	Facial palsy	-	OMIM:616209
400916	CHCHD10	HP:0008314	Decreased activity of mitochondrial complex II	2/2	OMIM:616209
400916	CHCHD10	HP:0002385	Paraparesis	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0002380	Fasciculations	HP:0040283	ORPHA:275872
400916	CHCHD10	HP:0002380	Fasciculations	-	OMIM:615048
400916	CHCHD10	HP:0002380	Fasciculations	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0002380	Fasciculations	HP:0040282	ORPHA:276435
400916	CHCHD10	HP:0002366	Abnormal lower motor neuron morphology	HP:0040281	ORPHA:275872
400916	CHCHD10	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:803
400916	CHCHD10	HP:0003676	Progressive	-	OMIM:615911
400916	CHCHD10	HP:0003677	Slowly progressive	-	OMIM:616209
400916	CHCHD10	HP:0003677	Slowly progressive	-	OMIM:615048
400916	CHCHD10	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:803
400916	CHCHD10	HP:0002314	Degeneration of the lateral corticospinal tracts	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0002300	Mutism	HP:0040283	ORPHA:275872
400916	CHCHD10	HP:0002307	Drooling	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0007190	Neuronal loss in the cerebral cortex	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0006886	Impaired distal vibration sensation	HP:0040283	ORPHA:276435
400916	CHCHD10	HP:0000605	Supranuclear gaze palsy	HP:0040283	ORPHA:275872
400916	CHCHD10	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:457050
400916	CHCHD10	HP:0009053	Distal lower limb muscle weakness	HP:0040281	ORPHA:276435
400916	CHCHD10	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:803
400916	CHCHD10	HP:0004322	Short stature	HP:0040282	ORPHA:457050
400916	CHCHD10	HP:0004322	Short stature	-	OMIM:616209
400916	CHCHD10	HP:0004326	Cachexia	HP:0040283	ORPHA:803
400916	CHCHD10	HP:0031993	Hoffmann sign	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0031921	Gastrocnemius myalgia	HP:0040282	ORPHA:276435
400916	CHCHD10	HP:0000738	Hallucinations	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0000739	Anxiety	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0000734	Disinhibition	HP:0040283	ORPHA:275872
400916	CHCHD10	HP:0000741	Apathy	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0000716	Depression	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0000716	Depression	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0000712	Emotional lability	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0000727	Frontal lobe dementia	-	OMIM:615911
400916	CHCHD10	HP:0000708	Atypical behavior	HP:0040282	ORPHA:275872
400916	CHCHD10	HP:0000708	Atypical behavior	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0011463	Childhood onset	-	OMIM:616209
400916	CHCHD10	HP:0012764	Orthopnea	HP:0040283	ORPHA:803
400916	CHCHD10	HP:0040014	Increased mitochondrial number	HP:0040282	ORPHA:457050
400916	CHCHD10	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:616209
400916	CHCHD10	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:615048
400916	CHCHD10	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:276435
400916	CHCHD10	HP:0030878	Abnormality on pulmonary function testing	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0003202	Skeletal muscle atrophy	4/5	OMIM:615048
400916	CHCHD10	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0003200	Ragged-red muscle fibers	-	OMIM:616209
400916	CHCHD10	HP:0003200	Ragged-red muscle fibers	HP:0040282	ORPHA:457050
400916	CHCHD10	HP:0003200	Ragged-red muscle fibers	HP:0040283	ORPHA:276435
400916	CHCHD10	HP:0040132	Abnormal sensory nerve conduction velocity	HP:0040283	ORPHA:276435
400916	CHCHD10	HP:0012240	Increased intramyocellular lipid droplets	HP:0040282	ORPHA:457050
400916	CHCHD10	HP:0000217	Xerostomia	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0002878	Respiratory failure	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0012378	Fatigue	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0002936	Distal sensory impairment	HP:0040283	OMIM:615048
400916	CHCHD10	HP:0001618	Dysphonia	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0030196	Fatigable weakness of respiratory muscles	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0030195	Fatigable weakness of swallowing muscles	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:457050
400916	CHCHD10	HP:0000407	Sensorineural hearing impairment	2/8	OMIM:615911
400916	CHCHD10	HP:0012473	Tongue atrophy	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0030223	Perseverative thought	HP:0040283	ORPHA:275872
400916	CHCHD10	HP:0001763	Pes planus	-	OMIM:615048
400916	CHCHD10	HP:0001765	Hammertoe	-	OMIM:615048
400916	CHCHD10	HP:0025710	Late young adult onset	1/5	OMIM:615048
400916	CHCHD10	HP:0001761	Pes cavus	-	OMIM:615048
400916	CHCHD10	HP:0001824	Weight loss	HP:0040282	ORPHA:803
400916	CHCHD10	HP:0000508	Ptosis	HP:0040284	ORPHA:275872
400916	CHCHD10	HP:0000508	Ptosis	1/8	OMIM:615911
400916	CHCHD10	HP:0012531	Pain	HP:0040282	ORPHA:803
401024	FSIP2	HP:0033525	Absent sperm axoneme central pair complex	1/1	OMIM:618153
401024	FSIP2	HP:0000007	Autosomal recessive inheritance	-	OMIM:618153
401024	FSIP2	HP:0032558	Absent sperm flagella	4/4	OMIM:618153
401024	FSIP2	HP:0032559	Short sperm flagella	4/4	OMIM:618153
401024	FSIP2	HP:0032560	Coiled sperm flagella	4/4	OMIM:618153
401024	FSIP2	HP:0033393	Irregularly shaped sperm tail	4/4	OMIM:618153
401024	FSIP2	HP:0011462	Young adult onset	4/4	OMIM:618153
401024	FSIP2	HP:0003251	Male infertility	4/4	OMIM:618153
401024	FSIP2	HP:0012207	Reduced sperm motility	4/4	OMIM:618153
401124	DTHD1	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
401124	DTHD1	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
401124	DTHD1	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
401124	DTHD1	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
401124	DTHD1	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
401124	DTHD1	HP:0003621	Juvenile onset	8/19	OMIM:180100
401124	DTHD1	HP:0000662	Nyctalopia	26/28	OMIM:180100
401124	DTHD1	HP:0011463	Childhood onset	3/19	OMIM:180100
401124	DTHD1	HP:0011462	Young adult onset	8/19	OMIM:180100
401124	DTHD1	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
401124	DTHD1	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
401124	DTHD1	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
401124	DTHD1	HP:0000575	Scotoma	5/18	OMIM:180100
401124	DTHD1	HP:0000543	Optic disc pallor	1/1	OMIM:180100
401124	DTHD1	HP:0000545	Myopia	-	OMIM:180100
401138	AMTN	HP:0000006	Autosomal dominant inheritance	-	OMIM:617607
401138	AMTN	HP:0006285	Enamel hypomineralization	1/1	OMIM:617607
401138	AMTN	HP:0003593	Infantile onset	-	OMIM:617607
401138	AMTN	HP:0000705	Amelogenesis imperfecta	3/3	OMIM:617607
401474	SAMD12	HP:0010852	EEG with photoparoxysmal response	-	OMIM:601068
401474	SAMD12	HP:0001249	Intellectual disability	HP:0040283	OMIM:601068
401474	SAMD12	HP:0001249	Intellectual disability	HP:0040283	ORPHA:86814
401474	SAMD12	HP:0007359	Focal-onset seizure	HP:0040282	ORPHA:86814
401474	SAMD12	HP:0001351	Jerk-locked premyoclonus spikes	-	OMIM:601068
401474	SAMD12	HP:0001326	EEG with irregular generalized spike and wave complexes	-	OMIM:601068
401474	SAMD12	HP:0001340	Enhancement of the C-reflex	61/71	OMIM:601068
401474	SAMD12	HP:0001337	Tremor	-	OMIM:601068
401474	SAMD12	HP:0000006	Autosomal dominant inheritance	-	OMIM:601068
401474	SAMD12	HP:0001336	Myoclonus	HP:0040281	ORPHA:86814
401474	SAMD12	HP:0001312	Giant somatosensory evoked potentials	74/82	OMIM:601068
401474	SAMD12	HP:0002069	Bilateral tonic-clonic seizure	79/105	OMIM:601068
401474	SAMD12	HP:0100576	Amaurosis fugax	HP:0040283	ORPHA:86814
401474	SAMD12	HP:0002123	Generalized myoclonic seizure	-	OMIM:601068
401474	SAMD12	HP:0002197	Generalized-onset seizure	HP:0040282	ORPHA:86814
401474	SAMD12	HP:0003581	Adult onset	-	OMIM:601068
401474	SAMD12	HP:0002378	Hand tremor	HP:0040281	ORPHA:86814
401474	SAMD12	HP:0002353	EEG abnormality	HP:0040281	ORPHA:86814
401474	SAMD12	HP:0003680	Nonprogressive	-	OMIM:601068
401474	SAMD12	HP:0002315	Headache	HP:0040283	ORPHA:86814
402381	SOHLH1	HP:0008734	Decreased testicular size	HP:0040281	ORPHA:399805
402381	SOHLH1	HP:0008669	Abnormal spermatogenesis	HP:0040281	ORPHA:399805
402381	SOHLH1	HP:0000027	Azoospermia	HP:0040281	ORPHA:399805
402381	SOHLH1	HP:0000013	Hypoplasia of the uterus	4/4	OMIM:617690
402381	SOHLH1	HP:0000007	Autosomal recessive inheritance	-	OMIM:617690
402381	SOHLH1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618115
402381	SOHLH1	HP:0000118	Phenotypic abnormality	HP:0040281	ORPHA:399805
402381	SOHLH1	HP:0002750	Delayed skeletal maturation	-	OMIM:617690
402381	SOHLH1	HP:0008232	Elevated circulating follicle stimulating hormone level	4/4	OMIM:617690
402381	SOHLH1	HP:0008214	Decreased serum estradiol	3/4	OMIM:617690
402381	SOHLH1	HP:0011969	Elevated circulating luteinizing hormone level	4/4	OMIM:617690
402381	SOHLH1	HP:0011961	Non-obstructive azoospermia	2/2	OMIM:618115
402381	SOHLH1	HP:0011961	Non-obstructive azoospermia	HP:0040281	ORPHA:399805
402381	SOHLH1	HP:0011962	Obstructive azoospermia	HP:0040282	ORPHA:399805
402381	SOHLH1	HP:0003621	Juvenile onset	3/4	OMIM:617690
402381	SOHLH1	HP:0004322	Short stature	2/4	OMIM:617690
402381	SOHLH1	HP:0011462	Young adult onset	2/2	OMIM:618115
402381	SOHLH1	HP:0000786	Primary amenorrhea	4/4	OMIM:617690
402381	SOHLH1	HP:0034299	Sertoli cell-only phenotype	2/2	OMIM:618115
402381	SOHLH1	HP:0000837	Increased circulating gonadotropin level	HP:0040281	ORPHA:399805
402381	SOHLH1	HP:0003251	Male infertility	2/2	OMIM:618115
402381	SOHLH1	HP:0025708	Early young adult onset	1/4	OMIM:617690
402569	KPNA7	HP:0000007	Autosomal recessive inheritance	-	OMIM:620319
402569	KPNA7	HP:0000141	Amenorrhea	0/10	OMIM:620319
402569	KPNA7	HP:0008222	Female infertility	10/10	OMIM:620319
402569	KPNA7	HP:0011462	Young adult onset	10/10	OMIM:620319
404672	GTF2H5	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001197	Abnormality of prenatal development or birth	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0410219	Hypoplasia of mandible relative to maxilla	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0007266	Cerebral dysmyelination	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0009886	Trichorrhexis nodosa	1/1	OMIM:616395
404672	GTF2H5	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001276	Hypertonia	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001276	Hypertonia	1/1	OMIM:616395
404672	GTF2H5	HP:0001249	Intellectual disability	3/3	OMIM:616395
404672	GTF2H5	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001260	Dysarthria	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001263	Global developmental delay	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001263	Global developmental delay	1/1	OMIM:616395
404672	GTF2H5	HP:0001257	Spasticity	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0002562	Low-set nipples	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0007431	Congenital ichthyosiform erythroderma	1/1	OMIM:616395
404672	GTF2H5	HP:0007381	Congenital exfoliative erythroderma	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0008689	Bilateral cryptorchidism	1/1	OMIM:616395
404672	GTF2H5	HP:0001217	Clubbing	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001373	Joint dislocation	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0007485	Absence of subcutaneous fat	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0007479	Congenital nonbullous ichthyosiform erythroderma	1/1	OMIM:616395
404672	GTF2H5	HP:0001338	Partial agenesis of the corpus callosum	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000007	Autosomal recessive inheritance	-	OMIM:616395
404672	GTF2H5	HP:0007633	Bilateral microphthalmos	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0002705	High, narrow palate	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0007587	Numerous pigmented freckles	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000133	Gonadal dysgenesis	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0002719	Recurrent infections	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0002719	Recurrent infections	1/1	OMIM:616395
404672	GTF2H5	HP:0002021	Pyloric stenosis	1/1	OMIM:616395
404672	GTF2H5	HP:0002080	Intention tremor	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0002066	Gait ataxia	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0033134	Abdominal adhesions	1/1	OMIM:616395
404672	GTF2H5	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0002188	Delayed CNS myelination	1/1	OMIM:616395
404672	GTF2H5	HP:0002197	Generalized-onset seizure	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0010551	Paraplegia/paraparesis	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0002245	Meckel diverticulum	1/1	OMIM:616395
404672	GTF2H5	HP:0003577	Congenital onset	2/2	OMIM:616395
404672	GTF2H5	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0002299	Brittle hair	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0002299	Brittle hair	4/4	OMIM:616395
404672	GTF2H5	HP:0002293	Alopecia of scalp	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0007034	Generalized hyperreflexia	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0011968	Feeding difficulties	1/1	OMIM:616395
404672	GTF2H5	HP:0008391	Dystrophic fingernails	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0008386	Aplasia/Hypoplasia of the nails	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:4000007	Bronchoconstriction	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000639	Nystagmus	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000613	Photophobia	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000608	Macular degeneration	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000601	Hypotelorism	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000601	Hypotelorism	1/1	OMIM:616395
404672	GTF2H5	HP:0001903	Anemia	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000695	Natal tooth	1/1	OMIM:616395
404672	GTF2H5	HP:0000656	Ectropion	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000656	Ectropion	1/1	OMIM:616395
404672	GTF2H5	HP:0000670	Carious teeth	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000670	Carious teeth	1/3	OMIM:616395
404672	GTF2H5	HP:0004322	Short stature	2/3	OMIM:616395
404672	GTF2H5	HP:0006970	Periventricular leukomalacia	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0003079	Defective DNA repair after ultraviolet radiation damage	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0012760	Reduced social responsiveness	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0003139	Panhypogammaglobulinemia	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0045055	Tiger tail banding	1/1	OMIM:616395
404672	GTF2H5	HP:0045055	Tiger tail banding	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0003261	Increased circulating IgA concentration	1/1	OMIM:616395
404672	GTF2H5	HP:0100275	Diffuse cerebellar atrophy	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000992	Cutaneous photosensitivity	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000992	Cutaneous photosensitivity	4/4	OMIM:616395
404672	GTF2H5	HP:0000958	Dry skin	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000938	Osteopenia	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0008064	Ichthyosis	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0008064	Ichthyosis	3/4	OMIM:616395
404672	GTF2H5	HP:0008069	Neoplasm of the skin	0/3	OMIM:616395
404672	GTF2H5	HP:0000286	Epicanthus	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000280	Coarse facial features	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000278	Retrognathia	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0025548	Increased mean corpuscular hemoglobin concentration	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001598	Concave nail	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000243	Trigonocephaly	1/1	OMIM:616395
404672	GTF2H5	HP:0000252	Microcephaly	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0002860	Squamous cell carcinoma	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001508	Failure to thrive	1/1	OMIM:616395
404672	GTF2H5	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001511	Intrauterine growth retardation	1/1	OMIM:616395
404672	GTF2H5	HP:0006538	Recurrent bronchopulmonary infections	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001618	Dysphonia	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0002942	Thoracic kyphosis	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000365	Hearing impairment	1/3	OMIM:616395
404672	GTF2H5	HP:0000369	Low-set ears	1/1	OMIM:616395
404672	GTF2H5	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000320	Bird-like facies	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000316	Hypertelorism	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000483	Astigmatism	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000486	Strabismus	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000482	Microcornea	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0012472	Eclabion	1/1	OMIM:616395
404672	GTF2H5	HP:0000411	Protruding ear	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000518	Cataract	2/3	OMIM:616395
404672	GTF2H5	HP:0000519	Developmental cataract	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000519	Developmental cataract	1/1	OMIM:616395
404672	GTF2H5	HP:0000509	Conjunctivitis	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001809	Split nail	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001808	Fragile nails	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001807	Ridged nail	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001888	Decreased total lymphocyte count	1/1	OMIM:616395
404672	GTF2H5	HP:0000568	Microphthalmia	1/1	OMIM:616395
404672	GTF2H5	HP:0000565	Esotropia	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000546	Retinal degeneration	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0000545	Myopia	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001875	Decreased total neutrophil count	HP:0040283	ORPHA:33364
404672	GTF2H5	HP:0001875	Decreased total neutrophil count	1/1	OMIM:616395
405753	DUOXA2	HP:0001254	Lethargy	HP:0040283	ORPHA:95716
405753	DUOXA2	HP:0001252	Hypotonia	HP:0040283	ORPHA:95716
405753	DUOXA2	HP:0001249	Intellectual disability	-	OMIM:274900
405753	DUOXA2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:95716
405753	DUOXA2	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:95716
405753	DUOXA2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:95716
405753	DUOXA2	HP:0008828	Delayed proximal femoral epiphyseal ossification	HP:0040282	ORPHA:95716
405753	DUOXA2	HP:0000007	Autosomal recessive inheritance	-	OMIM:274900
405753	DUOXA2	HP:0025483	Abnormal circulating thyroglobulin concentration	HP:0040283	ORPHA:95716
405753	DUOXA2	HP:0025482	Positive perchlorate discharge test	HP:0040283	ORPHA:95716
405753	DUOXA2	HP:0000158	Macroglossia	HP:0040283	ORPHA:95716
405753	DUOXA2	HP:0031219	Reduced radioactive iodine uptake	HP:0040283	ORPHA:95716
405753	DUOXA2	HP:0031220	Increased radioactive iodine uptake	HP:0040283	ORPHA:95716
405753	DUOXA2	HP:0002019	Constipation	HP:0040282	ORPHA:95716
405753	DUOXA2	HP:0002045	Hypothermia	HP:0040283	ORPHA:95716
405753	DUOXA2	HP:0005930	Abnormal epiphysis morphology	HP:0040282	ORPHA:95716
405753	DUOXA2	HP:0008263	Thyroid defect in oxidation and organification of iodide	HP:0040282	ORPHA:95716
405753	DUOXA2	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:274900
405753	DUOXA2	HP:0011437	Maternal autoimmune disease	-	ORPHA:95716
405753	DUOXA2	HP:0012758	Neurodevelopmental delay	HP:0040282	ORPHA:95716
405753	DUOXA2	HP:0004491	Large posterior fontanelle	HP:0040282	ORPHA:95716
405753	DUOXA2	HP:0000851	Congenital hypothyroidism	HP:0040282	ORPHA:95716
405753	DUOXA2	HP:0000853	Goiter	-	OMIM:274900
405753	DUOXA2	HP:0000853	Goiter	HP:0040282	ORPHA:95716
405753	DUOXA2	HP:0000821	Hypothyroidism	-	OMIM:274900
405753	DUOXA2	HP:0003265	Neonatal hyperbilirubinemia	HP:0040283	ORPHA:95716
405753	DUOXA2	HP:0000282	Facial edema	HP:0040283	ORPHA:95716
405753	DUOXA2	HP:0000270	Delayed cranial suture closure	HP:0040282	ORPHA:95716
405753	DUOXA2	HP:0001537	Umbilical hernia	HP:0040282	ORPHA:95716
405753	DUOXA2	HP:0001510	Growth delay	-	OMIM:274900
405753	DUOXA2	HP:0031507	Decreased circulating T4 concentration	HP:0040281	ORPHA:95716
405753	DUOXA2	HP:0006579	Prolonged neonatal jaundice	HP:0040282	ORPHA:95716
405753	DUOXA2	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	HP:0040281	ORPHA:95716
405753	DUOXA2	HP:0001662	Bradycardia	HP:0040283	ORPHA:95716
405753	DUOXA2	HP:0000407	Sensorineural hearing impairment	HP:0040284	ORPHA:95716
405753	DUOXA2	HP:0005280	Depressed nasal bridge	HP:0040283	ORPHA:95716
406932	MIR140	HP:0001156	Brachydactyly	3/3	OMIM:618618
406932	MIR140	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
406932	MIR140	HP:0001293	Cranial nerve compression	-	OMIM:131300
406932	MIR140	HP:0001252	Hypotonia	2/7	OMIM:615777
406932	MIR140	HP:0001249	Intellectual disability	0/3	OMIM:618618
406932	MIR140	HP:0001249	Intellectual disability	5/7	OMIM:615777
406932	MIR140	HP:0001263	Global developmental delay	-	OMIM:615777
406932	MIR140	HP:0002515	Waddling gait	54/102	OMIM:131300
406932	MIR140	HP:0001382	Joint hypermobility	-	OMIM:615777
406932	MIR140	HP:0002694	Sclerosis of skull base	-	OMIM:131300
406932	MIR140	HP:0008897	Postnatal growth retardation	-	OMIM:615777
406932	MIR140	HP:0008873	Disproportionate short-limb short stature	3/3	OMIM:618618
406932	MIR140	HP:0002663	Delayed epiphyseal ossification	3/3	OMIM:618618
406932	MIR140	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
406932	MIR140	HP:0001324	Muscle weakness	40/96	OMIM:131300
406932	MIR140	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
406932	MIR140	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
406932	MIR140	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
406932	MIR140	HP:0000006	Autosomal dominant inheritance	-	OMIM:618618
406932	MIR140	HP:0002650	Scoliosis	12/14	OMIM:131300
406932	MIR140	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
406932	MIR140	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
406932	MIR140	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
406932	MIR140	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
406932	MIR140	HP:0000175	Cleft palate	2/7	OMIM:615777
406932	MIR140	HP:0011800	Midface retrusion	3/3	OMIM:618618
406932	MIR140	HP:0003388	Easy fatigability	36/76	OMIM:131300
406932	MIR140	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
406932	MIR140	HP:0002205	Recurrent respiratory infections	2/3	OMIM:618618
406932	MIR140	HP:0003510	Severe short stature	7/7	OMIM:615777
406932	MIR140	HP:0002315	Headache	-	OMIM:131300
406932	MIR140	HP:0004976	Knee dislocation	6/7	OMIM:615777
406932	MIR140	HP:0009803	Short phalanx of finger	-	OMIM:615777
406932	MIR140	HP:0200055	Small hand	3/3	OMIM:618618
406932	MIR140	HP:0009763	Limb pain	63/92	OMIM:131300
406932	MIR140	HP:0003621	Juvenile onset	-	OMIM:131300
406932	MIR140	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
406932	MIR140	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
406932	MIR140	HP:6001056	Out-toeing	-	OMIM:131300
406932	MIR140	HP:0000651	Diplopia	-	OMIM:131300
406932	MIR140	HP:0001956	Truncal obesity	2/7	OMIM:615777
406932	MIR140	HP:0001903	Anemia	HP:0040283	OMIM:131300
406932	MIR140	HP:0010049	Short metacarpal	-	OMIM:615777
406932	MIR140	HP:0000678	Dental crowding	-	OMIM:615777
406932	MIR140	HP:0000670	Carious teeth	-	OMIM:131300
406932	MIR140	HP:0011304	Broad thumb	2/7	OMIM:615777
406932	MIR140	HP:0000668	Hypodontia	-	OMIM:615777
406932	MIR140	HP:0000664	Synophrys	-	OMIM:615777
406932	MIR140	HP:0004396	Poor appetite	-	OMIM:131300
406932	MIR140	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
406932	MIR140	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
406932	MIR140	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
406932	MIR140	HP:0003026	Short long bone	7/7	OMIM:615777
406932	MIR140	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
406932	MIR140	HP:0000767	Pectus excavatum	2/7	OMIM:615777
406932	MIR140	HP:0000768	Pectus carinatum	1/7	OMIM:615777
406932	MIR140	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
406932	MIR140	HP:0000750	Delayed speech and language development	-	OMIM:615777
406932	MIR140	HP:0011461	Fetal onset	7/7	OMIM:615777
406932	MIR140	HP:0000774	Narrow chest	2/7	OMIM:615777
406932	MIR140	HP:0003196	Short nose	3/3	OMIM:618618
406932	MIR140	HP:0000926	Platyspondyly	1/7	OMIM:615777
406932	MIR140	HP:0003180	Flat acetabular roof	-	OMIM:615777
406932	MIR140	HP:0004482	Relative macrocephaly	-	OMIM:615777
406932	MIR140	HP:0003165	Elevated circulating parathyroid hormone level	0/3	OMIM:618618
406932	MIR140	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
406932	MIR140	HP:0000823	Delayed puberty	-	OMIM:131300
406932	MIR140	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	3/3	OMIM:618618
406932	MIR140	HP:0000894	Short clavicles	-	OMIM:615777
406932	MIR140	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
406932	MIR140	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
406932	MIR140	HP:0000286	Epicanthus	1/7	OMIM:615777
406932	MIR140	HP:0000280	Coarse facial features	2/7	OMIM:615777
406932	MIR140	HP:0002827	Hip dislocation	3/7	OMIM:615777
406932	MIR140	HP:0000252	Microcephaly	-	OMIM:615777
406932	MIR140	HP:0002857	Genu valgum	-	OMIM:131300
406932	MIR140	HP:0001533	Slender build	-	OMIM:131300
406932	MIR140	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
406932	MIR140	HP:0007807	Optic nerve compression	-	OMIM:131300
406932	MIR140	HP:0012368	Flat face	7/7	OMIM:615777
406932	MIR140	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
406932	MIR140	HP:0002905	Hyperphosphatemia	0/3	OMIM:618618
406932	MIR140	HP:0002901	Hypocalcemia	0/3	OMIM:618618
406932	MIR140	HP:0000365	Hearing impairment	10/67	OMIM:131300
406932	MIR140	HP:0000343	Long philtrum	1/7	OMIM:615777
406932	MIR140	HP:0011001	Increased bone mineral density	-	OMIM:131300
406932	MIR140	HP:0000311	Round face	2/7	OMIM:615777
406932	MIR140	HP:0002970	Genu varum	-	OMIM:615777
406932	MIR140	HP:0000303	Mandibular prognathia	-	OMIM:131300
406932	MIR140	HP:0005348	Inspiratory stridor	2/3	OMIM:618618
406932	MIR140	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
406932	MIR140	HP:0000470	Short neck	1/7	OMIM:615777
406932	MIR140	HP:0001769	Broad foot	HP:0040283	OMIM:615777
406932	MIR140	HP:0001763	Pes planus	1/7	OMIM:615777
406932	MIR140	HP:0001840	Metatarsus adductus	-	OMIM:615777
406932	MIR140	HP:0000520	Proptosis	2/4	OMIM:131300
406932	MIR140	HP:0000520	Proptosis	7/7	OMIM:615777
406932	MIR140	HP:0000505	Visual impairment	0/3	OMIM:618618
406932	MIR140	HP:0000592	Blue sclerae	2/7	OMIM:615777
406932	MIR140	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
406932	MIR140	HP:0012514	Lower limb pain	4/4	OMIM:131300
406960	MIR184	HP:0001134	Anterior polar cataract	18/18	OMIM:614303
406960	MIR184	HP:0000006	Autosomal dominant inheritance	-	OMIM:614303
406960	MIR184	HP:0007676	Hypoplasia of the iris	-	OMIM:614303
406960	MIR184	HP:0007663	Reduced visual acuity	-	OMIM:614303
406960	MIR184	HP:0011463	Childhood onset	18/18	OMIM:614303
406960	MIR184	HP:0000483	Astigmatism	18/18	OMIM:614303
406960	MIR184	HP:0000482	Microcornea	-	OMIM:614303
406960	MIR184	HP:0000505	Visual impairment	-	OMIM:614303
406960	MIR184	HP:0000563	Keratoconus	18/18	OMIM:614303
406987	MIR204	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
406987	MIR204	HP:0001105	Retinal atrophy	-	OMIM:616722
406987	MIR204	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
406987	MIR204	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
406987	MIR204	HP:0000006	Autosomal dominant inheritance	-	OMIM:616722
406987	MIR204	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
406987	MIR204	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
406987	MIR204	HP:0007663	Reduced visual acuity	-	OMIM:616722
406987	MIR204	HP:0003621	Juvenile onset	8/19	OMIM:180100
406987	MIR204	HP:0000612	Iris coloboma	6/9	OMIM:616722
406987	MIR204	HP:0000662	Nyctalopia	26/28	OMIM:180100
406987	MIR204	HP:0011484	Posterior synechiae of the anterior chamber	-	OMIM:616722
406987	MIR204	HP:0011463	Childhood onset	3/19	OMIM:180100
406987	MIR204	HP:0011462	Young adult onset	8/19	OMIM:180100
406987	MIR204	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
406987	MIR204	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
406987	MIR204	HP:0000519	Developmental cataract	-	OMIM:616722
406987	MIR204	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
406987	MIR204	HP:0000575	Scotoma	5/18	OMIM:180100
406987	MIR204	HP:0000543	Optic disc pallor	1/1	OMIM:180100
406987	MIR204	HP:0000545	Myopia	-	OMIM:180100
407053	MIR96	HP:0000006	Autosomal dominant inheritance	-	OMIM:613074
407053	MIR96	HP:0000360	Tinnitus	HP:0040283	OMIM:613074
407053	MIR96	HP:0000408	Progressive sensorineural hearing impairment	-	OMIM:613074
407053	MIR96	HP:0000407	Sensorineural hearing impairment	-	OMIM:613074
407053	MIR96	HP:0001730	Progressive hearing impairment	-	OMIM:613074
407975	MIR17HG	HP:0001156	Brachydactyly	HP:0040282	ORPHA:391646
407975	MIR17HG	HP:0001249	Intellectual disability	HP:0040281	ORPHA:391646
407975	MIR17HG	HP:0009778	Short thumb	HP:0040282	ORPHA:391646
407975	MIR17HG	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:391646
407975	MIR17HG	HP:0004322	Short stature	HP:0040282	ORPHA:391646
407975	MIR17HG	HP:0000739	Anxiety	HP:0040283	ORPHA:391646
407975	MIR17HG	HP:0000712	Emotional lability	HP:0040283	ORPHA:391646
407975	MIR17HG	HP:0000708	Atypical behavior	HP:0040283	ORPHA:391646
407975	MIR17HG	HP:0012758	Neurodevelopmental delay	HP:0040281	ORPHA:391646
407975	MIR17HG	HP:0000924	Abnormality of the skeletal system	HP:0040281	ORPHA:391646
407975	MIR17HG	HP:0005819	Short middle phalanx of finger	HP:0040281	ORPHA:391646
407975	MIR17HG	HP:0000252	Microcephaly	HP:0040281	ORPHA:391646
407975	MIR17HG	HP:0005235	Jejunal atresia	HP:0040282	ORPHA:391646
407975	MIR17HG	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:391646
407975	MIR17HG	HP:0001770	Toe syndactyly	HP:0040282	ORPHA:391646
431705	ASTL	HP:0000007	Autosomal recessive inheritance	-	OMIM:619643
431705	ASTL	HP:0008222	Female infertility	2/2	OMIM:619643
431705	ASTL	HP:0011462	Young adult onset	2/2	OMIM:619643
440138	ALG11	HP:0010851	EEG with burst suppression	HP:0040283	ORPHA:280071
440138	ALG11	HP:0001276	Hypertonia	HP:0040282	ORPHA:280071
440138	ALG11	HP:0001250	Seizure	2/2	OMIM:613661
440138	ALG11	HP:0001250	Seizure	HP:0040281	ORPHA:280071
440138	ALG11	HP:0001252	Hypotonia	2/2	OMIM:613661
440138	ALG11	HP:0001251	Ataxia	HP:0040283	ORPHA:280071
440138	ALG11	HP:0001249	Intellectual disability	HP:0040281	ORPHA:280071
440138	ALG11	HP:0001263	Global developmental delay	20/20	OMIM:613661
440138	ALG11	HP:0001263	Global developmental delay	HP:0040281	ORPHA:280071
440138	ALG11	HP:0002572	Episodic vomiting	HP:0040283	ORPHA:280071
440138	ALG11	HP:0002509	Limb hypertonia	HP:0040283	ORPHA:280071
440138	ALG11	HP:0002500	Abnormal cerebral white matter morphology	HP:0040283	ORPHA:280071
440138	ALG11	HP:0003819	Death in childhood	1/2	OMIM:613661
440138	ALG11	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:280071
440138	ALG11	HP:0001344	Absent speech	-	OMIM:613661
440138	ALG11	HP:0000007	Autosomal recessive inheritance	-	OMIM:613661
440138	ALG11	HP:0002650	Scoliosis	HP:0040283	ORPHA:280071
440138	ALG11	HP:0001319	Neonatal hypotonia	-	OMIM:613661
440138	ALG11	HP:0008947	Floppy infant	HP:0040281	ORPHA:280071
440138	ALG11	HP:0008936	Axial hypotonia	HP:0040283	ORPHA:280071
440138	ALG11	HP:0002013	Vomiting	2/2	OMIM:613661
440138	ALG11	HP:0005968	Temperature instability	HP:0040283	ORPHA:280071
440138	ALG11	HP:0005968	Temperature instability	-	OMIM:613661
440138	ALG11	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:280071
440138	ALG11	HP:0002179	Opisthotonus	HP:0040283	ORPHA:280071
440138	ALG11	HP:0002179	Opisthotonus	1/2	OMIM:613661
440138	ALG11	HP:0011842	Abnormal skeletal morphology	HP:0040283	ORPHA:280071
440138	ALG11	HP:0003593	Infantile onset	1/2	OMIM:613661
440138	ALG11	HP:0002282	Gray matter heterotopia	HP:0040283	ORPHA:280071
440138	ALG11	HP:0011968	Feeding difficulties	1/2	OMIM:613661
440138	ALG11	HP:0011968	Feeding difficulties	HP:0040282	ORPHA:280071
440138	ALG11	HP:0002375	Hypokinesia	HP:0040283	ORPHA:280071
440138	ALG11	HP:0003623	Neonatal onset	1/2	OMIM:613661
440138	ALG11	HP:0003642	Type I transferrin isoform profile	HP:0040281	ORPHA:280071
440138	ALG11	HP:0003642	Type I transferrin isoform profile	1/1	OMIM:613661
440138	ALG11	HP:0001987	Hyperammonemia	1/2	OMIM:613661
440138	ALG11	HP:0001999	Abnormal facial shape	HP:0040282	ORPHA:280071
440138	ALG11	HP:0012704	Widened subarachnoid space	HP:0040283	ORPHA:280071
440138	ALG11	HP:0009124	Abnormal adipose tissue morphology	HP:0040283	ORPHA:280071
440138	ALG11	HP:0012760	Reduced social responsiveness	HP:0040281	ORPHA:280071
440138	ALG11	HP:0012762	Cerebral white matter atrophy	HP:0040283	ORPHA:280071
440138	ALG11	HP:0003186	Inverted nipples	HP:0040283	ORPHA:280071
440138	ALG11	HP:0003186	Inverted nipples	1/2	OMIM:613661
440138	ALG11	HP:0003160	Abnormal isoelectric focusing of serum transferrin	HP:0040281	ORPHA:280071
440138	ALG11	HP:0008000	Decreased corneal reflex	HP:0040283	ORPHA:280071
440138	ALG11	HP:0000958	Dry skin	HP:0040283	ORPHA:280071
440138	ALG11	HP:0000278	Retrognathia	HP:0040283	ORPHA:280071
440138	ALG11	HP:0000294	Low anterior hairline	1/2	OMIM:613661
440138	ALG11	HP:0000252	Microcephaly	1/2	OMIM:613661
440138	ALG11	HP:0000252	Microcephaly	HP:0040282	ORPHA:280071
440138	ALG11	HP:0001508	Failure to thrive	HP:0040283	ORPHA:280071
440138	ALG11	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040283	ORPHA:280071
440138	ALG11	HP:0000365	Hearing impairment	HP:0040282	ORPHA:280071
440138	ALG11	HP:0000343	Long philtrum	HP:0040283	ORPHA:280071
440138	ALG11	HP:0000348	High forehead	1/2	OMIM:613661
440138	ALG11	HP:0000348	High forehead	HP:0040283	ORPHA:280071
440138	ALG11	HP:0011198	EEG with generalized epileptiform discharges	2/2	OMIM:613661
440138	ALG11	HP:0000407	Sensorineural hearing impairment	2/2	OMIM:613661
440138	ALG11	HP:0000486	Strabismus	-	OMIM:613661
440138	ALG11	HP:0000486	Strabismus	HP:0040283	ORPHA:280071
440138	ALG11	HP:0012448	Delayed myelination	HP:0040283	ORPHA:280071
440138	ALG11	HP:0000504	Abnormality of vision	HP:0040282	ORPHA:280071
440193	CCDC88C	HP:0001250	Seizure	1/1	OMIM:236600
440193	CCDC88C	HP:0001251	Ataxia	1/2	OMIM:616053
440193	CCDC88C	HP:0001249	Intellectual disability	-	OMIM:236600
440193	CCDC88C	HP:0001260	Dysarthria	1/2	OMIM:616053
440193	CCDC88C	HP:0001260	Dysarthria	HP:0040282	ORPHA:423275
440193	CCDC88C	HP:0001347	Hyperreflexia	1/2	OMIM:616053
440193	CCDC88C	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:423275
440193	CCDC88C	HP:0000007	Autosomal recessive inheritance	-	OMIM:236600
440193	CCDC88C	HP:0001337	Tremor	1/2	OMIM:616053
440193	CCDC88C	HP:0000006	Autosomal dominant inheritance	-	OMIM:616053
440193	CCDC88C	HP:0001310	Dysmetria	2/2	OMIM:616053
440193	CCDC88C	HP:0001310	Dysmetria	HP:0040282	ORPHA:423275
440193	CCDC88C	HP:0002080	Intention tremor	1/2	OMIM:616053
440193	CCDC88C	HP:0002080	Intention tremor	HP:0040282	ORPHA:423275
440193	CCDC88C	HP:0002066	Gait ataxia	1/2	OMIM:616053
440193	CCDC88C	HP:0002066	Gait ataxia	HP:0040282	ORPHA:423275
440193	CCDC88C	HP:0002075	Dysdiadochokinesis	1/2	OMIM:616053
440193	CCDC88C	HP:0002075	Dysdiadochokinesis	HP:0040282	ORPHA:423275
440193	CCDC88C	HP:0002119	Ventriculomegaly	2/2	OMIM:236600
440193	CCDC88C	HP:0002136	Broad-based gait	1/2	OMIM:616053
440193	CCDC88C	HP:0002136	Broad-based gait	HP:0040282	ORPHA:423275
440193	CCDC88C	HP:0002168	Scanning speech	2/2	OMIM:616053
440193	CCDC88C	HP:0002168	Scanning speech	HP:0040282	ORPHA:423275
440193	CCDC88C	HP:0002167	Abnormal speech pattern	HP:0040282	ORPHA:423275
440193	CCDC88C	HP:0003596	Middle age onset	2/2	OMIM:616053
440193	CCDC88C	HP:0003677	Slowly progressive	-	OMIM:616053
440193	CCDC88C	HP:0002317	Unsteady gait	-	OMIM:616053
440193	CCDC88C	HP:0002317	Unsteady gait	HP:0040282	ORPHA:423275
440193	CCDC88C	HP:0002313	Spastic paraparesis	1/2	OMIM:616053
440193	CCDC88C	HP:0002313	Spastic paraparesis	HP:0040282	ORPHA:423275
440193	CCDC88C	HP:0006879	Pontocerebellar atrophy	2/2	OMIM:616053
440193	CCDC88C	HP:0006879	Pontocerebellar atrophy	HP:0040282	ORPHA:423275
440193	CCDC88C	HP:0004302	Functional motor deficit	HP:0040282	ORPHA:423275
440193	CCDC88C	HP:0034198	Second trimester onset	2/2	OMIM:236600
440193	CCDC88C	HP:0011448	Ankle clonus	1/2	OMIM:616053
440193	CCDC88C	HP:0000238	Hydrocephalus	2/2	OMIM:236600
440193	CCDC88C	HP:0000511	Vertical supranuclear gaze palsy	HP:0040282	ORPHA:423275
440275	EIF2AK4	HP:0025104	Capillary malformation	HP:0040281	ORPHA:199241
440275	EIF2AK4	HP:0025180	Centrilobular ground-glass opacification on pulmonary HRCT	15/16	OMIM:234810
440275	EIF2AK4	HP:0025180	Centrilobular ground-glass opacification on pulmonary HRCT	HP:0040282	ORPHA:199241
440275	EIF2AK4	HP:0025179	Ground-glass opacification	HP:0040281	ORPHA:199241
440275	EIF2AK4	HP:0032230	Cytoplasmic antineutrophil antibody positivity	-	ORPHA:199241
440275	EIF2AK4	HP:0000007	Autosomal recessive inheritance	-	OMIM:234810
440275	EIF2AK4	HP:0012151	Hemothorax	HP:0040282	ORPHA:199241
440275	EIF2AK4	HP:0025420	Diffuse alveolar hemorrhage	HP:0040282	ORPHA:199241
440275	EIF2AK4	HP:0002716	Lymphadenopathy	HP:0040281	ORPHA:199241
440275	EIF2AK4	HP:0005954	Pulmonary capillary hemangiomatosis	-	OMIM:234810
440275	EIF2AK4	HP:0005954	Pulmonary capillary hemangiomatosis	HP:0040281	ORPHA:199241
440275	EIF2AK4	HP:0002094	Dyspnea	4/4	OMIM:234810
440275	EIF2AK4	HP:0002094	Dyspnea	HP:0040282	ORPHA:199241
440275	EIF2AK4	HP:0002092	Pulmonary arterial hypertension	-	OMIM:234810
440275	EIF2AK4	HP:0030968	Abnormal pulmonary vein morphology	HP:0040282	ORPHA:199241
440275	EIF2AK4	HP:0100598	Pulmonary edema	HP:0040283	ORPHA:199241
440275	EIF2AK4	HP:0002105	Hemoptysis	HP:0040282	ORPHA:199241
440275	EIF2AK4	HP:0003493	Antinuclear antibody positivity	-	ORPHA:199241
440275	EIF2AK4	HP:0003596	Middle age onset	3/24	OMIM:234810
440275	EIF2AK4	HP:0004890	Elevated pulmonary artery pressure	HP:0040282	ORPHA:199241
440275	EIF2AK4	HP:0002202	Pleural effusion	HP:0040283	ORPHA:199241
440275	EIF2AK4	HP:0100721	Mediastinal lymphadenopathy	HP:0040282	ORPHA:199241
440275	EIF2AK4	HP:0100721	Mediastinal lymphadenopathy	11/16	OMIM:234810
440275	EIF2AK4	HP:0100759	Clubbing of fingers	HP:0040282	ORPHA:199241
440275	EIF2AK4	HP:0010741	Pedal edema	HP:0040282	ORPHA:199241
440275	EIF2AK4	HP:0003621	Juvenile onset	2/24	OMIM:234810
440275	EIF2AK4	HP:0012735	Cough	-	OMIM:234810
440275	EIF2AK4	HP:0011462	Young adult onset	19/24	OMIM:234810
440275	EIF2AK4	HP:0030879	Interlobular septal thickening	HP:0040281	ORPHA:199241
440275	EIF2AK4	HP:0045051	Decreased DLCO	HP:0040281	ORPHA:199241
440275	EIF2AK4	HP:0045051	Decreased DLCO	17/19	OMIM:234810
440275	EIF2AK4	HP:0000961	Cyanosis	HP:0040282	ORPHA:199241
440275	EIF2AK4	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:199241
440275	EIF2AK4	HP:0006518	Pulmonary venous occlusion	-	OMIM:234810
440275	EIF2AK4	HP:0001698	Pericardial effusion	HP:0040284	ORPHA:199241
440275	EIF2AK4	HP:0001708	Right ventricular failure	HP:0040282	ORPHA:199241
440275	EIF2AK4	HP:0012432	Chronic fatigue	2/4	OMIM:234810
440275	EIF2AK4	HP:0012418	Hypoxemia	HP:0040282	ORPHA:199241
440435	GPR179	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
440435	GPR179	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
440435	GPR179	HP:0000007	Autosomal recessive inheritance	-	OMIM:614565
440435	GPR179	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
440435	GPR179	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
440435	GPR179	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
440435	GPR179	HP:0007663	Reduced visual acuity	HP:0040281	ORPHA:215
440435	GPR179	HP:0007663	Reduced visual acuity	2/7	OMIM:614565
440435	GPR179	HP:0007642	Congenital stationary night blindness	7/7	OMIM:614565
440435	GPR179	HP:0003621	Juvenile onset	8/19	OMIM:180100
440435	GPR179	HP:0000639	Nystagmus	4/7	OMIM:614565
440435	GPR179	HP:0000639	Nystagmus	HP:0040282	ORPHA:215
440435	GPR179	HP:0030469	Abnormal dark-adapted electroretinogram	HP:0040281	ORPHA:215
440435	GPR179	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	HP:0040283	ORPHA:215
440435	GPR179	HP:0000662	Nyctalopia	26/28	OMIM:180100
440435	GPR179	HP:0000662	Nyctalopia	HP:0040281	ORPHA:215
440435	GPR179	HP:0030639	Congenital stationary night blindness with abnormal fundus	HP:0040282	ORPHA:215
440435	GPR179	HP:0030638	Congenital stationary night blindness with normal fundus	HP:0040282	ORPHA:215
440435	GPR179	HP:0011463	Childhood onset	3/19	OMIM:180100
440435	GPR179	HP:0011462	Young adult onset	8/19	OMIM:180100
440435	GPR179	HP:0007703	Abnormality of retinal pigmentation	HP:0040284	ORPHA:215
440435	GPR179	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
440435	GPR179	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
440435	GPR179	HP:0011003	High myopia	2/7	OMIM:614565
440435	GPR179	HP:0030329	Retinal thinning	HP:0040284	ORPHA:215
440435	GPR179	HP:0007984	Electronegative electroretinogram	HP:0040283	ORPHA:215
440435	GPR179	HP:0000486	Strabismus	2/7	OMIM:614565
440435	GPR179	HP:0000486	Strabismus	HP:0040282	ORPHA:215
440435	GPR179	HP:0031705	Compensatory head posture	HP:0040283	ORPHA:215
440435	GPR179	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
440435	GPR179	HP:0000505	Visual impairment	-	OMIM:614565
440435	GPR179	HP:0000575	Scotoma	5/18	OMIM:180100
440435	GPR179	HP:0000540	Hypermetropia	HP:0040283	ORPHA:215
440435	GPR179	HP:0000551	Color vision defect	HP:0040284	ORPHA:215
440435	GPR179	HP:0000543	Optic disc pallor	1/1	OMIM:180100
440435	GPR179	HP:0000545	Myopia	-	OMIM:180100
440435	GPR179	HP:0000545	Myopia	HP:0040281	ORPHA:215
442721	LMOD2	HP:0025169	Left ventricular systolic dysfunction	HP:0040281	ORPHA:154
442721	LMOD2	HP:0003811	Neonatal death	2/2	OMIM:619897
442721	LMOD2	HP:0001342	Cerebral hemorrhage	1/1	OMIM:619897
442721	LMOD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619897
442721	LMOD2	HP:0031295	Left atrial enlargement	1/1	OMIM:619897
442721	LMOD2	HP:0100578	Lipoatrophy	HP:0040283	ORPHA:154
442721	LMOD2	HP:0011712	Complete right bundle branch block	1/1	OMIM:619897
442721	LMOD2	HP:0011701	Multifocal atrial tachycardia	1/2	OMIM:619897
442721	LMOD2	HP:0003457	EMG abnormality	HP:0040283	ORPHA:154
442721	LMOD2	HP:0004751	Paroxysmal ventricular tachycardia	1/1	OMIM:619897
442721	LMOD2	HP:0003577	Congenital onset	3/3	OMIM:619897
442721	LMOD2	HP:0012666	Severely reduced left ventricular ejection fraction	3/3	OMIM:619897
442721	LMOD2	HP:0012764	Orthopnea	HP:0040282	ORPHA:154
442721	LMOD2	HP:0003198	Myopathy	HP:0040283	ORPHA:154
442721	LMOD2	HP:0033008	Increased Z-disc width	2/3	OMIM:619897
442721	LMOD2	HP:0000969	Edema	HP:0040282	ORPHA:154
442721	LMOD2	HP:0011675	Arrhythmia	HP:0040282	ORPHA:154
442721	LMOD2	HP:0031318	Myofiber disarray	1/1	OMIM:619897
442721	LMOD2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:154
442721	LMOD2	HP:0031333	Myocardial sarcomeric disarray	1/2	OMIM:619897
442721	LMOD2	HP:0012378	Fatigue	HP:0040282	ORPHA:154
442721	LMOD2	HP:0005180	Tricuspid regurgitation	1/2	OMIM:619897
442721	LMOD2	HP:0001649	Tachycardia	1/1	OMIM:619897
442721	LMOD2	HP:0001644	Dilated cardiomyopathy	HP:0040281	ORPHA:154
442721	LMOD2	HP:0001644	Dilated cardiomyopathy	2/2	OMIM:619897
442721	LMOD2	HP:0030149	Cardiogenic shock	1/2	OMIM:619897
442721	LMOD2	HP:0001659	Aortic regurgitation	1/1	OMIM:619897
442721	LMOD2	HP:0001653	Mitral regurgitation	1/1	OMIM:619897
442721	LMOD2	HP:0001635	Congestive heart failure	HP:0040282	ORPHA:154
442721	LMOD2	HP:0001727	Thromboembolic stroke	HP:0040283	ORPHA:154
442721	LMOD2	HP:0000407	Sensorineural hearing impairment	HP:0040283	ORPHA:154
442721	LMOD2	HP:0031676	Monomorphic ventricular tachycardia	1/1	OMIM:619897
442862	PRY2	HP:0000027	Azoospermia	-	OMIM:415000
442862	PRY2	HP:0001450	Y-linked inheritance	-	OMIM:415000
442862	PRY2	HP:0011462	Young adult onset	-	OMIM:415000
442862	PRY2	HP:0003251	Male infertility	-	OMIM:415000
493753	COA5	HP:0000007	Autosomal recessive inheritance	-	OMIM:616500
493753	COA5	HP:0003577	Congenital onset	2/2	OMIM:616500
493753	COA5	HP:0008347	Decreased activity of mitochondrial complex IV	1/1	OMIM:616500
493753	COA5	HP:0031320	Cardiomyocyte mitochondrial proliferation	2/2	OMIM:616500
493753	COA5	HP:0001639	Hypertrophic cardiomyopathy	2/2	OMIM:616500
493856	CISD2	HP:0001138	Optic neuropathy	-	OMIM:604928
493856	CISD2	HP:0001250	Seizure	HP:0040282	ORPHA:3463
493856	CISD2	HP:0001251	Ataxia	HP:0040282	ORPHA:3463
493856	CISD2	HP:0001249	Intellectual disability	HP:0040283	ORPHA:3463
493856	CISD2	HP:0001260	Dysarthria	HP:0040282	ORPHA:3463
493856	CISD2	HP:0002592	Gastric ulcer	HP:0040283	ORPHA:3463
493856	CISD2	HP:0000079	Abnormality of the urinary system	HP:0040282	ORPHA:3463
493856	CISD2	HP:0001387	Joint stiffness	HP:0040283	ORPHA:3463
493856	CISD2	HP:0000026	Male hypogonadism	HP:0040283	ORPHA:3463
493856	CISD2	HP:0008872	Feeding difficulties in infancy	HP:0040282	ORPHA:3463
493856	CISD2	HP:0000011	Neurogenic bladder	-	OMIM:604928
493856	CISD2	HP:0000010	Recurrent urinary tract infections	HP:0040282	ORPHA:3463
493856	CISD2	HP:0000007	Autosomal recessive inheritance	-	OMIM:604928
493856	CISD2	HP:0000135	Hypogonadism	HP:0040283	ORPHA:3463
493856	CISD2	HP:0000112	Nephropathy	HP:0040282	ORPHA:3463
493856	CISD2	HP:0002024	Malabsorption	HP:0040283	ORPHA:3463
493856	CISD2	HP:0002019	Constipation	HP:0040283	ORPHA:3463
493856	CISD2	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:3463
493856	CISD2	HP:0100518	Dysuria	HP:0040282	ORPHA:3463
493856	CISD2	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:3463
493856	CISD2	HP:0002239	Gastrointestinal hemorrhage	HP:0040283	ORPHA:3463
493856	CISD2	HP:0008320	Impaired collagen-induced platelet aggregation	-	OMIM:604928
493856	CISD2	HP:0002360	Sleep abnormality	HP:0040283	ORPHA:3463
493856	CISD2	HP:0002376	Developmental regression	HP:0040283	ORPHA:3463
493856	CISD2	HP:0009830	Peripheral neuropathy	HP:0040283	ORPHA:3463
493856	CISD2	HP:0003621	Juvenile onset	11/13	OMIM:604928
493856	CISD2	HP:0000639	Nystagmus	HP:0040282	ORPHA:3463
493856	CISD2	HP:0000648	Optic atrophy	16/16	OMIM:604928
493856	CISD2	HP:0000648	Optic atrophy	HP:0040281	ORPHA:3463
493856	CISD2	HP:0001959	Polydipsia	HP:0040281	ORPHA:3463
493856	CISD2	HP:0000602	Ophthalmoplegia	HP:0040283	ORPHA:3463
493856	CISD2	HP:0001903	Anemia	HP:0040283	ORPHA:3463
493856	CISD2	HP:0004313	Decreased circulating immunoglobulin concentration	-	OMIM:604928
493856	CISD2	HP:0004398	Peptic ulcer	11/16	OMIM:604928
493856	CISD2	HP:0100016	Abnormal mesentery morphology	HP:0040282	ORPHA:3463
493856	CISD2	HP:0000738	Hallucinations	HP:0040283	ORPHA:3463
493856	CISD2	HP:0000716	Depression	-	OMIM:604928
493856	CISD2	HP:0000726	Dementia	HP:0040283	ORPHA:3463
493856	CISD2	HP:0000708	Atypical behavior	HP:0040283	ORPHA:3463
493856	CISD2	HP:0011463	Childhood onset	2/13	OMIM:604928
493856	CISD2	HP:0000786	Primary amenorrhea	-	OMIM:604928
493856	CISD2	HP:0003198	Myopathy	HP:0040283	ORPHA:3463
493856	CISD2	HP:0000876	Oligomenorrhea	-	OMIM:604928
493856	CISD2	HP:0000873	Diabetes insipidus	HP:0040281	ORPHA:3463
493856	CISD2	HP:0000873	Diabetes insipidus	0/16	OMIM:604928
493856	CISD2	HP:0000819	Diabetes mellitus	HP:0040281	ORPHA:3463
493856	CISD2	HP:0000819	Diabetes mellitus	16/16	OMIM:604928
493856	CISD2	HP:0000823	Delayed puberty	HP:0040283	ORPHA:3463
493856	CISD2	HP:0002871	Central apnea	HP:0040283	ORPHA:3463
493856	CISD2	HP:0012332	Abnormal autonomic nervous system physiology	HP:0040283	ORPHA:3463
493856	CISD2	HP:0001638	Cardiomyopathy	HP:0040283	ORPHA:3463
493856	CISD2	HP:0000407	Sensorineural hearing impairment	14/16	OMIM:604928
493856	CISD2	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:3463
493856	CISD2	HP:0000501	Glaucoma	HP:0040283	ORPHA:3463
493856	CISD2	HP:0001892	Abnormal bleeding	-	OMIM:604928
494513	PJVK	HP:0000007	Autosomal recessive inheritance	-	OMIM:610220
494513	PJVK	HP:0000407	Sensorineural hearing impairment	-	OMIM:610220
494551	WEE2	HP:0008669	Abnormal spermatogenesis	-	ORPHA:488191
494551	WEE2	HP:0000007	Autosomal recessive inheritance	-	OMIM:617996
494551	WEE2	HP:0000147	Polycystic ovaries	-	ORPHA:488191
494551	WEE2	HP:0008222	Female infertility	4/4	OMIM:617996
494551	WEE2	HP:0008222	Female infertility	HP:0040280	ORPHA:488191
494551	WEE2	HP:0034719	Lack of oocyte pronucleus formation	4/4	OMIM:617996
494551	WEE2	HP:0020155	Abnormal oocyte morphology	HP:0040283	ORPHA:488191
494551	WEE2	HP:0011462	Young adult onset	4/4	OMIM:617996
494551	WEE2	HP:0031515	Abnormal meiosis	HP:0040280	ORPHA:488191
494551	WEE2	HP:0031516	Oocyte arrest at metaphase I	HP:0040282	ORPHA:488191
497661	C18orf32	HP:0001252	Hypotonia	1/1	OMIM:619985
497661	C18orf32	HP:0003819	Death in childhood	1/1	OMIM:619985
497661	C18orf32	HP:0000007	Autosomal recessive inheritance	-	OMIM:619985
497661	C18orf32	HP:0002188	Delayed CNS myelination	1/1	OMIM:619985
497661	C18orf32	HP:0003577	Congenital onset	1/1	OMIM:619985
497661	C18orf32	HP:0002208	Coarse hair	1/1	OMIM:619985
497661	C18orf32	HP:0011344	Severe global developmental delay	1/1	OMIM:619985
497661	C18orf32	HP:0004322	Short stature	1/1	OMIM:619985
497661	C18orf32	HP:0003186	Inverted nipples	1/1	OMIM:619985
497661	C18orf32	HP:0003282	Decreased circulating alkaline phosphatase activity	1/1	OMIM:619985
497661	C18orf32	HP:0008070	Sparse hair	1/1	OMIM:619985
497661	C18orf32	HP:0006466	Ankle flexion contracture	1/1	OMIM:619985
643226	GRXCR2	HP:0008619	Bilateral sensorineural hearing impairment	3/3	OMIM:615837
643226	GRXCR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:615837
643226	GRXCR2	HP:0011463	Childhood onset	3/3	OMIM:615837
643226	GRXCR2	HP:0001751	Abnormal vestibular function	0/3	OMIM:615837
643226	GRXCR2	HP:0000505	Visual impairment	0/3	OMIM:615837
643418	LIPN	HP:0025114	Hypergranulosis	1/1	OMIM:613943
643418	LIPN	HP:0100806	Sepsis	HP:0040283	ORPHA:313
643418	LIPN	HP:0100840	Aplasia/Hypoplasia of the eyebrow	HP:0040281	ORPHA:313
643418	LIPN	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:313
643418	LIPN	HP:0000007	Autosomal recessive inheritance	-	OMIM:613943
643418	LIPN	HP:0000164	Abnormality of the dentition	HP:0040283	ORPHA:313
643418	LIPN	HP:0100543	Cognitive impairment	HP:0040283	ORPHA:313
643418	LIPN	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:313
643418	LIPN	HP:0100758	Gangrene	HP:0040283	ORPHA:313
643418	LIPN	HP:0001019	Erythroderma	HP:0040281	ORPHA:313
643418	LIPN	HP:0025092	Epidermal acanthosis	1/1	OMIM:613943
643418	LIPN	HP:0100679	Lack of skin elasticity	HP:0040281	ORPHA:313
643418	LIPN	HP:0010783	Erythema	-	OMIM:613943
643418	LIPN	HP:0001944	Dehydration	HP:0040283	ORPHA:313
643418	LIPN	HP:0000656	Ectropion	HP:0040281	ORPHA:313
643418	LIPN	HP:0004322	Short stature	HP:0040283	ORPHA:313
643418	LIPN	HP:0011463	Childhood onset	7/7	OMIM:613943
643418	LIPN	HP:0000989	Pruritus	HP:0040281	ORPHA:313
643418	LIPN	HP:0000958	Dry skin	HP:0040281	ORPHA:313
643418	LIPN	HP:0000962	Hyperkeratosis	HP:0040281	ORPHA:313
643418	LIPN	HP:0000962	Hyperkeratosis	1/1	OMIM:613943
643418	LIPN	HP:0040162	Orthokeratosis	1/1	OMIM:613943
643418	LIPN	HP:0008070	Sparse hair	HP:0040281	ORPHA:313
643418	LIPN	HP:0008064	Ichthyosis	HP:0040281	ORPHA:313
643418	LIPN	HP:0008064	Ichthyosis	7/7	OMIM:613943
643418	LIPN	HP:0001597	Abnormal nail morphology	HP:0040281	ORPHA:313
643418	LIPN	HP:0000232	Everted lower lip vermilion	HP:0040282	ORPHA:313
643418	LIPN	HP:0011039	Abnormal helix morphology	HP:0040282	ORPHA:313
643418	LIPN	HP:0000389	Chronic otitis media	HP:0040283	ORPHA:313
644096	SDHAF1	HP:0002474	Expressive language delay	HP:0040283	ORPHA:3208
644096	SDHAF1	HP:0007272	Progressive psychomotor deterioration	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0002421	Poor head control	HP:0040284	ORPHA:3208
644096	SDHAF1	HP:0003756	Skeletal myopathy	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0003701	Proximal muscle weakness	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:3208
644096	SDHAF1	HP:0001270	Motor delay	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0001285	Spastic tetraparesis	HP:0040283	ORPHA:3208
644096	SDHAF1	HP:0001250	Seizure	HP:0040283	ORPHA:3208
644096	SDHAF1	HP:0001251	Ataxia	HP:0040283	ORPHA:3208
644096	SDHAF1	HP:0001257	Spasticity	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0007350	Upper limb hyperreflexia	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0002510	Spastic tetraplegia	7/7	OMIM:619166
644096	SDHAF1	HP:0002505	Loss of ambulation	HP:0040284	ORPHA:3208
644096	SDHAF1	HP:0000076	Vesicoureteral reflux	HP:0040284	ORPHA:3208
644096	SDHAF1	HP:0008872	Feeding difficulties in infancy	HP:0040283	ORPHA:3208
644096	SDHAF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619166
644096	SDHAF1	HP:0007663	Reduced visual acuity	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0003388	Easy fatigability	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0003487	Babinski sign	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0002123	Generalized myoclonic seizure	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0003593	Infantile onset	7/7	OMIM:619166
644096	SDHAF1	HP:0003510	Severe short stature	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0003508	Proportionate short stature	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0007083	Hyperactive patellar reflex	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0003693	Distal amyotrophy	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0002359	Frequent falls	HP:0040283	ORPHA:3208
644096	SDHAF1	HP:0002376	Developmental regression	7/7	OMIM:619166
644096	SDHAF1	HP:0002376	Developmental regression	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0002352	Leukoencephalopathy	6/6	OMIM:619166
644096	SDHAF1	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:3208
644096	SDHAF1	HP:0002333	Motor deterioration	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0006801	Hyperactive deep tendon reflexes	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0006895	Lower limb hypertonia	HP:0040283	ORPHA:3208
644096	SDHAF1	HP:0000639	Nystagmus	HP:0040284	ORPHA:3208
644096	SDHAF1	HP:0000618	Blindness	HP:0040284	ORPHA:3208
644096	SDHAF1	HP:0011343	Moderate global developmental delay	HP:0040283	ORPHA:3208
644096	SDHAF1	HP:0000737	Irritability	3/7	OMIM:619166
644096	SDHAF1	HP:0000737	Irritability	HP:0040283	ORPHA:3208
644096	SDHAF1	HP:0012708	Reduced brain N-acetyl aspartate level by MRS	-	OMIM:619166
644096	SDHAF1	HP:0000726	Dementia	HP:0040284	ORPHA:3208
644096	SDHAF1	HP:0012817	Noncompaction cardiomyopathy	HP:0040283	ORPHA:3208
644096	SDHAF1	HP:0003202	Skeletal muscle atrophy	HP:0040283	ORPHA:3208
644096	SDHAF1	HP:0040196	Mild microcephaly	HP:0040283	ORPHA:3208
644096	SDHAF1	HP:0006380	Knee flexion contracture	HP:0040283	ORPHA:3208
644096	SDHAF1	HP:0001511	Intrauterine growth retardation	HP:0040283	ORPHA:3208
644096	SDHAF1	HP:0001510	Growth delay	6/7	OMIM:619166
644096	SDHAF1	HP:0005150	Abnormal atrioventricular conduction	HP:0040283	ORPHA:3208
644096	SDHAF1	HP:0005162	Abnormal left ventricular function	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0011166	Focal myoclonic seizure	HP:0040283	ORPHA:3208
644096	SDHAF1	HP:0001712	Left ventricular hypertrophy	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0000478	Abnormality of the eye	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0001824	Weight loss	HP:0040282	ORPHA:3208
644096	SDHAF1	HP:0000580	Pigmentary retinopathy	HP:0040284	ORPHA:3208
644096	SDHAF1	HP:0000544	External ophthalmoplegia	HP:0040284	ORPHA:3208
645104	CLRN2	HP:0000007	Autosomal recessive inheritance	-	OMIM:619174
645104	CLRN2	HP:0011463	Childhood onset	3/3	OMIM:619174
645104	CLRN2	HP:0000407	Sensorineural hearing impairment	3/3	OMIM:619174
645104	CLRN2	HP:0001751	Abnormal vestibular function	0/3	OMIM:619174
646960	PRSS56	HP:0000007	Autosomal recessive inheritance	-	OMIM:613517
646960	PRSS56	HP:0008499	High hypermetropia	HP:0040281	ORPHA:35612
646960	PRSS56	HP:0008499	High hypermetropia	9/9	OMIM:613517
646960	PRSS56	HP:0000646	Amblyopia	2/9	OMIM:613517
646960	PRSS56	HP:0000610	Abnormal choroid morphology	HP:0040281	ORPHA:35612
646960	PRSS56	HP:0030823	Scleral thickening	-	OMIM:613517
646960	PRSS56	HP:0008052	Retinal fold	-	OMIM:613517
646960	PRSS56	HP:0007703	Abnormality of retinal pigmentation	HP:0040283	ORPHA:35612
646960	PRSS56	HP:0007906	Ocular hypertension	3/9	OMIM:613517
646960	PRSS56	HP:0000486	Strabismus	HP:0040281	ORPHA:35612
646960	PRSS56	HP:0000482	Microcornea	HP:0040283	OMIM:613517
646960	PRSS56	HP:0000501	Glaucoma	HP:0040281	ORPHA:35612
646960	PRSS56	HP:0000568	Microphthalmia	HP:0040281	ORPHA:35612
646960	PRSS56	HP:0000568	Microphthalmia	9/9	OMIM:613517
653361	NCF1	HP:0001181	Adducted thumb	HP:0040283	ORPHA:904
653361	NCF1	HP:0001136	Retinal arteriolar tortuosity	HP:0040283	ORPHA:904
653361	NCF1	HP:0010880	Increased nuchal translucency	HP:0040283	ORPHA:904
653361	NCF1	HP:0001297	Stroke	HP:0040282	ORPHA:904
653361	NCF1	HP:0100806	Sepsis	HP:0040283	ORPHA:379
653361	NCF1	HP:0100817	Renovascular hypertension	HP:0040282	ORPHA:904
653361	NCF1	HP:0001287	Meningitis	HP:0040283	ORPHA:379
653361	NCF1	HP:0001288	Gait disturbance	HP:0040281	ORPHA:904
653361	NCF1	HP:0001252	Hypotonia	HP:0040282	ORPHA:904
653361	NCF1	HP:0001251	Ataxia	HP:0040281	ORPHA:904
653361	NCF1	HP:0001249	Intellectual disability	HP:0040281	ORPHA:904
653361	NCF1	HP:0001260	Dysarthria	HP:0040283	ORPHA:904
653361	NCF1	HP:0001257	Spasticity	HP:0040282	ORPHA:904
653361	NCF1	HP:0001231	Abnormal fingernail morphology	HP:0040282	ORPHA:904
653361	NCF1	HP:0002575	Tracheoesophageal fistula	HP:0040283	ORPHA:904
653361	NCF1	HP:0002575	Tracheoesophageal fistula	HP:0040281	ORPHA:379
653361	NCF1	HP:0007417	Discoid lupus rash	-	OMIM:233700
653361	NCF1	HP:0008736	Hypoplasia of penis	HP:0040283	ORPHA:904
653361	NCF1	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	HP:0040283	ORPHA:904
653361	NCF1	HP:0008661	Urethral stenosis	HP:0040283	ORPHA:904
653361	NCF1	HP:0000089	Renal hypoplasia	HP:0040283	ORPHA:904
653361	NCF1	HP:0000083	Renal insufficiency	HP:0040282	ORPHA:904
653361	NCF1	HP:0000093	Proteinuria	HP:0040282	ORPHA:904
653361	NCF1	HP:0000076	Vesicoureteral reflux	HP:0040283	ORPHA:904
653361	NCF1	HP:0000075	Renal duplication	HP:0040283	ORPHA:904
653361	NCF1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040283	ORPHA:904
653361	NCF1	HP:0001387	Joint stiffness	HP:0040282	ORPHA:904
653361	NCF1	HP:0001382	Joint hypermobility	HP:0040283	ORPHA:904
653361	NCF1	HP:0000023	Inguinal hernia	HP:0040282	ORPHA:904
653361	NCF1	HP:0000015	Bladder diverticulum	HP:0040283	ORPHA:904
653361	NCF1	HP:0000014	Abnormality of the bladder	HP:0040282	ORPHA:904
653361	NCF1	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:904
653361	NCF1	HP:0001361	Nystagmus-induced head nodding	HP:0040282	ORPHA:904
653361	NCF1	HP:0000025	Functional abnormality of male internal genitalia	HP:0040283	ORPHA:904
653361	NCF1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:904
653361	NCF1	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:904
653361	NCF1	HP:0007477	Abnormal dermatoglyphics	HP:0040283	ORPHA:904
653361	NCF1	HP:0000010	Recurrent urinary tract infections	HP:0040283	ORPHA:904
653361	NCF1	HP:0000007	Autosomal recessive inheritance	-	OMIM:233700
653361	NCF1	HP:0001337	Tremor	HP:0040281	ORPHA:904
653361	NCF1	HP:0001310	Dysmetria	HP:0040281	ORPHA:904
653361	NCF1	HP:0002637	Cerebral ischemia	HP:0040282	ORPHA:904
653361	NCF1	HP:0002650	Scoliosis	HP:0040283	ORPHA:904
653361	NCF1	HP:0002644	Abnormal pelvic girdle bone morphology	HP:0040281	ORPHA:904
653361	NCF1	HP:0002623	Overriding aorta	HP:0040283	ORPHA:904
653361	NCF1	HP:0000179	Thick lower lip vermilion	HP:0040281	ORPHA:904
653361	NCF1	HP:0000158	Macroglossia	HP:0040281	ORPHA:904
653361	NCF1	HP:0000154	Wide mouth	HP:0040281	ORPHA:904
653361	NCF1	HP:0000147	Polycystic ovaries	HP:0040283	ORPHA:904
653361	NCF1	HP:0000121	Nephrocalcinosis	HP:0040283	ORPHA:904
653361	NCF1	HP:0000125	Pelvic kidney	HP:0040282	ORPHA:904
653361	NCF1	HP:0002754	Osteomyelitis	-	OMIM:233700
653361	NCF1	HP:0002740	Recurrent E. coli infections	-	OMIM:233700
653361	NCF1	HP:0002741	Recurrent Serratia marcescens infections	-	OMIM:233700
653361	NCF1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:904
653361	NCF1	HP:0002742	Recurrent Klebsiella infections	-	OMIM:233700
653361	NCF1	HP:0002716	Lymphadenopathy	-	OMIM:233700
653361	NCF1	HP:0002726	Recurrent Staphylococcus aureus infections	-	OMIM:233700
653361	NCF1	HP:0002724	Recurrent Aspergillus infections	-	OMIM:233700
653361	NCF1	HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes	-	OMIM:233700
653361	NCF1	HP:0002721	Immunodeficiency	-	OMIM:233700
653361	NCF1	HP:0002024	Malabsorption	HP:0040281	ORPHA:379
653361	NCF1	HP:0002024	Malabsorption	HP:0040283	ORPHA:904
653361	NCF1	HP:0002021	Pyloric stenosis	HP:0040281	ORPHA:379
653361	NCF1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:904
653361	NCF1	HP:0002019	Constipation	HP:0040282	ORPHA:904
653361	NCF1	HP:0002017	Nausea and vomiting	HP:0040282	ORPHA:904
653361	NCF1	HP:0002035	Rectal prolapse	HP:0040283	ORPHA:904
653361	NCF1	HP:0002027	Abdominal pain	HP:0040281	ORPHA:904
653361	NCF1	HP:0003312	Abnormal form of the vertebral bodies	HP:0040283	ORPHA:904
653361	NCF1	HP:0003307	Hyperlordosis	HP:0040282	ORPHA:904
653361	NCF1	HP:0005978	Type II diabetes mellitus	HP:0040283	ORPHA:904
653361	NCF1	HP:0100523	Liver abscess	-	OMIM:233700
653361	NCF1	HP:0100523	Liver abscess	HP:0040283	ORPHA:379
653361	NCF1	HP:0100533	Inflammatory abnormality of the eye	HP:0040283	ORPHA:379
653361	NCF1	HP:0100539	Periorbital edema	HP:0040281	ORPHA:904
653361	NCF1	HP:0100545	Arterial stenosis	HP:0040282	ORPHA:904
653361	NCF1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040281	ORPHA:904
653361	NCF1	HP:0002141	Gait imbalance	HP:0040281	ORPHA:904
653361	NCF1	HP:0002150	Hypercalciuria	HP:0040282	ORPHA:904
653361	NCF1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:904
653361	NCF1	HP:0003422	Vertebral segmentation defect	HP:0040283	ORPHA:904
653361	NCF1	HP:0002183	Phonophobia	HP:0040281	ORPHA:904
653361	NCF1	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:904
653361	NCF1	HP:0010526	Dysgraphia	HP:0040281	ORPHA:904
653361	NCF1	HP:0002240	Hepatomegaly	HP:0040281	ORPHA:379
653361	NCF1	HP:0002240	Hepatomegaly	-	OMIM:233700
653361	NCF1	HP:0002253	Colonic diverticula	HP:0040282	ORPHA:904
653361	NCF1	HP:0002205	Recurrent respiratory infections	HP:0040281	ORPHA:379
653361	NCF1	HP:0002205	Recurrent respiratory infections	HP:0040283	ORPHA:904
653361	NCF1	HP:0100785	Insomnia	HP:0040282	ORPHA:904
653361	NCF1	HP:0100721	Mediastinal lymphadenopathy	HP:0040281	ORPHA:379
653361	NCF1	HP:0010662	Abnormal diencephalon morphology	HP:0040283	ORPHA:904
653361	NCF1	HP:0010669	Hypoplasia of the zygomatic bone	HP:0040282	ORPHA:904
653361	NCF1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	ORPHA:904
653361	NCF1	HP:0001052	Nevus flammeus	HP:0040283	ORPHA:904
653361	NCF1	HP:0001034	Hypermelanotic macule	HP:0040281	ORPHA:379
653361	NCF1	HP:0002376	Developmental regression	HP:0040283	ORPHA:904
653361	NCF1	HP:0200021	Down-sloping shoulders	HP:0040282	ORPHA:904
653361	NCF1	HP:0100659	Abnormal cerebral vascular morphology	HP:0040282	ORPHA:904
653361	NCF1	HP:0100658	Cellulitis	-	OMIM:233700
653361	NCF1	HP:0010807	Open bite	HP:0040281	ORPHA:904
653361	NCF1	HP:0100613	Death in early adulthood	HP:0040283	ORPHA:904
653361	NCF1	HP:0200042	Skin ulcer	HP:0040283	ORPHA:379
653361	NCF1	HP:0001081	Cholelithiasis	HP:0040283	ORPHA:904
653361	NCF1	HP:0008499	High hypermetropia	HP:0040281	ORPHA:904
653361	NCF1	HP:0010780	Hyperacusis	HP:0040281	ORPHA:904
653361	NCF1	HP:0002308	Chiari malformation	HP:0040283	ORPHA:904
653361	NCF1	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282	ORPHA:904
653361	NCF1	HP:0003621	Juvenile onset	-	OMIM:233700
653361	NCF1	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:904
653361	NCF1	HP:0004295	Abnormal gastric mucosa morphology	HP:0040283	ORPHA:904
653361	NCF1	HP:0005562	Multiple renal cysts	HP:0040283	ORPHA:904
653361	NCF1	HP:0001969	Abnormal tubulointerstitial morphology	HP:0040283	ORPHA:904
653361	NCF1	HP:0000635	Blue irides	HP:0040283	ORPHA:904
653361	NCF1	HP:0000632	Lacrimation abnormality	HP:0040283	ORPHA:904
653361	NCF1	HP:0001945	Fever	HP:0040281	ORPHA:379
653361	NCF1	HP:0000627	Posterior embryotoxon	HP:0040283	ORPHA:904
653361	NCF1	HP:0000682	Abnormal dental enamel morphology	HP:0040282	ORPHA:904
653361	NCF1	HP:0000691	Microdontia	HP:0040282	ORPHA:904
653361	NCF1	HP:0000689	Dental malocclusion	HP:0040282	ORPHA:904
653361	NCF1	HP:0000670	Carious teeth	HP:0040283	ORPHA:904
653361	NCF1	HP:0012639	Abnormal nervous system morphology	HP:0040281	ORPHA:904
653361	NCF1	HP:0000668	Hypodontia	HP:0040282	ORPHA:904
653361	NCF1	HP:0004322	Short stature	HP:0040281	ORPHA:904
653361	NCF1	HP:0004306	Abnormal endocardium morphology	HP:0040283	ORPHA:904
653361	NCF1	HP:0004305	Involuntary movements	HP:0040281	ORPHA:904
653361	NCF1	HP:0003072	Hypercalcemia	HP:0040281	ORPHA:904
653361	NCF1	HP:0004381	Supravalvular aortic stenosis	HP:0040282	ORPHA:904
653361	NCF1	HP:0004398	Peptic ulcer	HP:0040283	ORPHA:904
653361	NCF1	HP:0003028	Abnormality of the ankle	HP:0040283	ORPHA:904
653361	NCF1	HP:0100025	Overfriendliness	HP:0040281	ORPHA:904
653361	NCF1	HP:0012733	Macule	HP:0040281	ORPHA:379
653361	NCF1	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:904
653361	NCF1	HP:0000739	Anxiety	HP:0040281	ORPHA:904
653361	NCF1	HP:0000716	Depression	HP:0040281	ORPHA:904
653361	NCF1	HP:0000717	Autism	HP:0040282	ORPHA:904
653361	NCF1	HP:0000722	Compulsive behaviors	HP:0040282	ORPHA:904
653361	NCF1	HP:0000787	Nephrolithiasis	HP:0040283	ORPHA:904
653361	NCF1	HP:0003119	Abnormal circulating lipid concentration	HP:0040283	ORPHA:904
653361	NCF1	HP:0004428	Elfin facies	HP:0040281	ORPHA:904
653361	NCF1	HP:0003198	Myopathy	HP:0040283	ORPHA:904
653361	NCF1	HP:0003196	Short nose	HP:0040281	ORPHA:904
653361	NCF1	HP:0000826	Precocious puberty	HP:0040283	ORPHA:904
653361	NCF1	HP:0000822	Hypertension	HP:0040282	ORPHA:904
653361	NCF1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:904
653361	NCF1	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040282	ORPHA:904
653361	NCF1	HP:0003206	Decreased activity of NADPH oxidase	-	OMIM:233700
653361	NCF1	HP:0003203	Decreased neutrophil oxidative burst	6/6	OMIM:233700
653361	NCF1	HP:0003298	Spina bifida occulta	HP:0040283	ORPHA:904
653361	NCF1	HP:0000992	Cutaneous photosensitivity	HP:0040281	ORPHA:379
653361	NCF1	HP:0000964	Eczematoid dermatitis	HP:0040283	ORPHA:379
653361	NCF1	HP:0000964	Eczematoid dermatitis	-	OMIM:233700
653361	NCF1	HP:0000960	Sacral dimple	HP:0040282	ORPHA:904
653361	NCF1	HP:0000939	Osteoporosis	HP:0040283	ORPHA:904
653361	NCF1	HP:0000938	Osteopenia	HP:0040283	ORPHA:904
653361	NCF1	HP:0100240	Synostosis of joints	HP:0040283	ORPHA:904
653361	NCF1	HP:0008053	Aplasia/Hypoplasia of the iris	HP:0040283	ORPHA:904
653361	NCF1	HP:0007720	Flat cornea	HP:0040283	ORPHA:904
653361	NCF1	HP:0000286	Epicanthus	HP:0040281	ORPHA:904
653361	NCF1	HP:0000280	Coarse facial features	HP:0040281	ORPHA:904
653361	NCF1	HP:0000275	Narrow face	HP:0040281	ORPHA:904
653361	NCF1	HP:0005113	Aortic arch aneurysm	HP:0040283	ORPHA:904
653361	NCF1	HP:0002829	Arthralgia	HP:0040282	ORPHA:904
653361	NCF1	HP:0002808	Kyphosis	HP:0040282	ORPHA:904
653361	NCF1	HP:0000252	Microcephaly	HP:0040282	ORPHA:904
653361	NCF1	HP:0001582	Redundant skin	HP:0040282	ORPHA:904
653361	NCF1	HP:0000246	Sinusitis	HP:0040281	ORPHA:379
653361	NCF1	HP:0000212	Gingival overgrowth	HP:0040283	ORPHA:904
653361	NCF1	HP:0000230	Gingivitis	HP:0040283	ORPHA:379
653361	NCF1	HP:0000232	Everted lower lip vermilion	HP:0040281	ORPHA:904
653361	NCF1	HP:0001531	Failure to thrive in infancy	HP:0040281	ORPHA:904
653361	NCF1	HP:0002857	Genu valgum	HP:0040282	ORPHA:904
653361	NCF1	HP:0001537	Umbilical hernia	HP:0040283	ORPHA:904
653361	NCF1	HP:0002840	Lymphadenitis	-	OMIM:233700
653361	NCF1	HP:0001513	Obesity	HP:0040282	ORPHA:904
653361	NCF1	HP:0002842	Recurrent Burkholderia cepacia infections	-	OMIM:233700
653361	NCF1	HP:0006510	Chronic pulmonary obstruction	HP:0040281	ORPHA:379
653361	NCF1	HP:0000389	Chronic otitis media	HP:0040282	ORPHA:904
653361	NCF1	HP:0000388	Otitis media	HP:0040281	ORPHA:379
653361	NCF1	HP:0005224	Rectal abscess	-	OMIM:233700
653361	NCF1	HP:0006532	Recurrent pneumonia	-	OMIM:233700
653361	NCF1	HP:0001609	Hoarse voice	HP:0040281	ORPHA:904
653361	NCF1	HP:0001608	Abnormality of the voice	HP:0040281	ORPHA:904
653361	NCF1	HP:0001618	Dysphonia	HP:0040283	ORPHA:904
653361	NCF1	HP:0006482	Abnormal dental morphology	HP:0040282	ORPHA:904
653361	NCF1	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:904
653361	NCF1	HP:0001671	Abnormal cardiac septum morphology	HP:0040283	ORPHA:904
653361	NCF1	HP:0000343	Long philtrum	HP:0040281	ORPHA:904
653361	NCF1	HP:0011001	Increased bone mineral density	HP:0040283	ORPHA:904
653361	NCF1	HP:0000337	Broad forehead	HP:0040281	ORPHA:904
653361	NCF1	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:904
653361	NCF1	HP:0000348	High forehead	HP:0040281	ORPHA:904
653361	NCF1	HP:0000347	Micrognathia	HP:0040281	ORPHA:904
653361	NCF1	HP:0001647	Bicuspid aortic valve	HP:0040283	ORPHA:904
653361	NCF1	HP:0001643	Patent ductus arteriosus	HP:0040283	ORPHA:904
653361	NCF1	HP:0001642	Pulmonic stenosis	HP:0040282	ORPHA:904
653361	NCF1	HP:0001645	Sudden cardiac death	HP:0040283	ORPHA:904
653361	NCF1	HP:0002974	Radioulnar synostosis	HP:0040283	ORPHA:904
653361	NCF1	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:904
653361	NCF1	HP:0001653	Mitral regurgitation	HP:0040282	ORPHA:904
653361	NCF1	HP:0001629	Ventricular septal defect	HP:0040283	ORPHA:904
653361	NCF1	HP:0002955	Granulomatosis	-	OMIM:233700
653361	NCF1	HP:0001626	Abnormality of the cardiovascular system	HP:0040281	ORPHA:904
653361	NCF1	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:904
653361	NCF1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040283	ORPHA:904
653361	NCF1	HP:0001636	Tetralogy of Fallot	HP:0040283	ORPHA:904
653361	NCF1	HP:0001635	Congestive heart failure	HP:0040283	ORPHA:904
653361	NCF1	HP:0000307	Pointed chin	HP:0040281	ORPHA:904
653361	NCF1	HP:0001631	Atrial septal defect	HP:0040283	ORPHA:904
653361	NCF1	HP:0001634	Mitral valve prolapse	HP:0040282	ORPHA:904
653361	NCF1	HP:0007957	Corneal opacity	HP:0040283	ORPHA:904
653361	NCF1	HP:0005344	Abnormal carotid artery morphology	HP:0040283	ORPHA:904
653361	NCF1	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:904
653361	NCF1	HP:0000400	Macrotia	HP:0040281	ORPHA:904
653361	NCF1	HP:0000486	Strabismus	HP:0040282	ORPHA:904
653361	NCF1	HP:0000485	Megalocornea	HP:0040283	ORPHA:904
653361	NCF1	HP:0000464	Abnormality of the neck	HP:0040281	ORPHA:904
653361	NCF1	HP:0012433	Abnormal social behavior	HP:0040281	ORPHA:904
653361	NCF1	HP:0001763	Pes planus	HP:0040282	ORPHA:904
653361	NCF1	HP:0000411	Protruding ear	HP:0040281	ORPHA:904
653361	NCF1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:379
653361	NCF1	HP:0001744	Splenomegaly	-	OMIM:233700
653361	NCF1	HP:0000431	Wide nasal bridge	HP:0040281	ORPHA:904
653361	NCF1	HP:0005406	Recurrent bacterial skin infections	-	OMIM:233700
653361	NCF1	HP:0000518	Cataract	HP:0040283	ORPHA:904
653361	NCF1	HP:0001822	Hallux valgus	HP:0040282	ORPHA:904
653361	NCF1	HP:0000505	Visual impairment	HP:0040282	ORPHA:904
653361	NCF1	HP:0000501	Glaucoma	HP:0040283	ORPHA:904
653361	NCF1	HP:0001800	Hypoplastic toenails	HP:0040282	ORPHA:904
653361	NCF1	HP:0000581	Blepharophimosis	HP:0040281	ORPHA:904
653361	NCF1	HP:0001874	Abnormality of neutrophils	HP:0040281	ORPHA:379
653361	NCF1	HP:0000545	Myopia	HP:0040283	ORPHA:904
653509	SFTPA1	HP:0025175	Honeycomb lung	HP:0040282	ORPHA:2032
653509	SFTPA1	HP:0025179	Ground-glass opacification	3/4	OMIM:619611
653509	SFTPA1	HP:0025179	Ground-glass opacification	HP:0040282	ORPHA:2032
653509	SFTPA1	HP:0033584	Nonspecific interstitial pneumonia	1/2	OMIM:619611
653509	SFTPA1	HP:0001217	Clubbing	2/4	OMIM:619611
653509	SFTPA1	HP:0033638	Intralobular septal thickening	1/4	OMIM:619611
653509	SFTPA1	HP:0032341	Reduced forced vital capacity	HP:0040282	ORPHA:2032
653509	SFTPA1	HP:0025390	Reticular pattern on pulmonary HRCT	HP:0040282	ORPHA:2032
653509	SFTPA1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619611
653509	SFTPA1	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2032
653509	SFTPA1	HP:0002094	Dyspnea	4/4	OMIM:619611
653509	SFTPA1	HP:0002091	Restrictive ventilatory defect	2/4	OMIM:619611
653509	SFTPA1	HP:0010444	Pulmonic regurgitation	HP:0040283	ORPHA:2032
653509	SFTPA1	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:2032
653509	SFTPA1	HP:0003596	Middle age onset	2/4	OMIM:619611
653509	SFTPA1	HP:0003584	Late onset	1/4	OMIM:619611
653509	SFTPA1	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:2032
653509	SFTPA1	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:2032
653509	SFTPA1	HP:0100759	Clubbing of fingers	HP:0040282	ORPHA:2032
653509	SFTPA1	HP:0033367	Orthodeoxia	HP:0040283	ORPHA:2032
653509	SFTPA1	HP:0001063	Acrocyanosis	HP:0040282	ORPHA:2032
653509	SFTPA1	HP:0031950	Usual interstitial pneumonia	HP:0040282	ORPHA:2032
653509	SFTPA1	HP:0031950	Usual interstitial pneumonia	1/2	OMIM:619611
653509	SFTPA1	HP:0012735	Cough	2/4	OMIM:619611
653509	SFTPA1	HP:0012735	Cough	HP:0040282	ORPHA:2032
653509	SFTPA1	HP:0011462	Young adult onset	1/4	OMIM:619611
653509	SFTPA1	HP:0030879	Interlobular septal thickening	3/4	OMIM:619611
653509	SFTPA1	HP:0045051	Decreased DLCO	2/4	OMIM:619611
653509	SFTPA1	HP:0045051	Decreased DLCO	HP:0040282	ORPHA:2032
653509	SFTPA1	HP:0030830	Crackles	3/4	OMIM:619611
653509	SFTPA1	HP:0030830	Crackles	HP:0040282	ORPHA:2032
653509	SFTPA1	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:2032
653509	SFTPA1	HP:0012378	Fatigue	HP:0040282	ORPHA:2032
653509	SFTPA1	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040281	ORPHA:2032
653509	SFTPA1	HP:0031631	Subpleural honeycombing	HP:0040282	ORPHA:2032
653509	SFTPA1	HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion	1/2	OMIM:619611
653509	SFTPA1	HP:0032987	Elevated bronchoalveolar lavage fluid eosinophil proportion	1/2	OMIM:619611
677814	SNORA31	HP:0000006	Autosomal dominant inheritance	-	OMIM:619396
677814	SNORA31	HP:0012302	Herpes simplex encephalitis	5/5	OMIM:619396
724066	ATXN8	HP:0002495	Impaired vibratory sensation	HP:0040283	ORPHA:98760
724066	ATXN8	HP:0002464	Spastic dysarthria	HP:0040282	ORPHA:98760
724066	ATXN8	HP:0007256	Abnormal pyramidal sign	-	OMIM:608768
724066	ATXN8	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:98760
724066	ATXN8	HP:0001272	Cerebellar atrophy	-	OMIM:608768
724066	ATXN8	HP:0001251	Ataxia	HP:0040282	ORPHA:98760
724066	ATXN8	HP:0001260	Dysarthria	-	OMIM:608768
724066	ATXN8	HP:0001257	Spasticity	HP:0040282	ORPHA:98760
724066	ATXN8	HP:0001257	Spasticity	-	OMIM:608768
724066	ATXN8	HP:0000020	Urinary incontinence	HP:0040283	ORPHA:98760
724066	ATXN8	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:98760
724066	ATXN8	HP:0001332	Dystonia	HP:0040282	ORPHA:98760
724066	ATXN8	HP:0001337	Tremor	-	OMIM:608768
724066	ATXN8	HP:0000006	Autosomal dominant inheritance	-	OMIM:608768
724066	ATXN8	HP:0012110	Hypoplasia of the pons	HP:0040283	ORPHA:98760
724066	ATXN8	HP:0002015	Dysphagia	HP:0040283	ORPHA:98760
724066	ATXN8	HP:0002015	Dysphagia	-	OMIM:608768
724066	ATXN8	HP:0002067	Bradykinesia	HP:0040282	ORPHA:98760
724066	ATXN8	HP:0002066	Gait ataxia	HP:0040282	ORPHA:98760
724066	ATXN8	HP:0002063	Rigidity	HP:0040282	ORPHA:98760
724066	ATXN8	HP:0002062	Abnormal pyramidal tract morphology	-	OMIM:608768
724066	ATXN8	HP:0002073	Progressive cerebellar ataxia	-	OMIM:608768
724066	ATXN8	HP:0002070	Limb ataxia	HP:0040282	ORPHA:98760
724066	ATXN8	HP:0002172	Postural instability	HP:0040282	ORPHA:98760
724066	ATXN8	HP:0002317	Unsteady gait	HP:0040282	ORPHA:98760
724066	ATXN8	HP:0009830	Peripheral neuropathy	-	OMIM:608768
724066	ATXN8	HP:0002311	Incoordination	-	OMIM:608768
724066	ATXN8	HP:0006855	Cerebellar vermis atrophy	HP:0040282	ORPHA:98760
724066	ATXN8	HP:0000639	Nystagmus	HP:0040282	ORPHA:98760
724066	ATXN8	HP:0000639	Nystagmus	-	OMIM:608768
724066	ATXN8	HP:0000641	Dysmetric saccades	-	OMIM:608768
724066	ATXN8	HP:0000802	Impotence	HP:0040282	ORPHA:98760
724066	ATXN8	HP:0000763	Sensory neuropathy	HP:0040283	OMIM:608768
724066	ATXN8	HP:0000716	Depression	HP:0040283	ORPHA:98760
724066	ATXN8	HP:0000273	Facial grimacing	HP:0040283	ORPHA:98760
724066	ATXN8	HP:0007772	Impaired smooth pursuit	HP:0040283	ORPHA:98760
724066	ATXN8	HP:0007772	Impaired smooth pursuit	-	OMIM:608768
724066	ATXN8	HP:0002835	Aspiration	HP:0040283	ORPHA:98760
724066	ATXN8	HP:0000514	Slow saccadic eye movements	-	OMIM:608768
727676	SNORD118	HP:0002461	Cerebellar dentate nucleus calcification	HP:0040282	ORPHA:542310
727676	SNORD118	HP:0007256	Abnormal pyramidal sign	-	OMIM:614561
727676	SNORD118	HP:0007256	Abnormal pyramidal sign	HP:0040282	ORPHA:542310
727676	SNORD118	HP:0007229	Intracerebral periventricular calcifications	HP:0040282	ORPHA:542310
727676	SNORD118	HP:0002415	Leukodystrophy	-	OMIM:614561
727676	SNORD118	HP:0007291	Posterior fossa cyst	HP:0040283	ORPHA:542310
727676	SNORD118	HP:0001297	Stroke	HP:0040283	ORPHA:542310
727676	SNORD118	HP:0001268	Mental deterioration	8/40	OMIM:614561
727676	SNORD118	HP:0001268	Mental deterioration	HP:0040282	ORPHA:542310
727676	SNORD118	HP:0001288	Gait disturbance	HP:0040283	ORPHA:542310
727676	SNORD118	HP:0001288	Gait disturbance	-	OMIM:614561
727676	SNORD118	HP:0001250	Seizure	HP:0040282	ORPHA:542310
727676	SNORD118	HP:0001250	Seizure	16/40	OMIM:614561
727676	SNORD118	HP:0001251	Ataxia	HP:0040282	ORPHA:542310
727676	SNORD118	HP:0001251	Ataxia	5/40	OMIM:614561
727676	SNORD118	HP:0001260	Dysarthria	HP:0040283	ORPHA:542310
727676	SNORD118	HP:0001260	Dysarthria	-	OMIM:614561
727676	SNORD118	HP:0001263	Global developmental delay	HP:0040283	ORPHA:542310
727676	SNORD118	HP:0001263	Global developmental delay	20/40	OMIM:614561
727676	SNORD118	HP:0001257	Spasticity	HP:0040283	ORPHA:542310
727676	SNORD118	HP:0001257	Spasticity	6/40	OMIM:614561
727676	SNORD118	HP:0007346	Subcortical white matter calcifications	HP:0040282	ORPHA:542310
727676	SNORD118	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:542310
727676	SNORD118	HP:0002514	Cerebral calcification	-	OMIM:614561
727676	SNORD118	HP:0002514	Cerebral calcification	HP:0040281	ORPHA:542310
727676	SNORD118	HP:0001332	Dystonia	HP:0040283	ORPHA:542310
727676	SNORD118	HP:0001332	Dystonia	4/40	OMIM:614561
727676	SNORD118	HP:0001342	Cerebral hemorrhage	HP:0040283	ORPHA:542310
727676	SNORD118	HP:0000007	Autosomal recessive inheritance	-	OMIM:614561
727676	SNORD118	HP:0001337	Tremor	HP:0040283	ORPHA:542310
727676	SNORD118	HP:0001337	Tremor	-	OMIM:614561
727676	SNORD118	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:542310
727676	SNORD118	HP:0002071	Abnormality of extrapyramidal motor function	-	OMIM:614561
727676	SNORD118	HP:0002059	Cerebral atrophy	-	ORPHA:542310
727676	SNORD118	HP:0002135	Basal ganglia calcification	HP:0040282	ORPHA:542310
727676	SNORD118	HP:0010576	Intracranial cystic lesion	HP:0040281	ORPHA:542310
727676	SNORD118	HP:0003596	Middle age onset	2/37	OMIM:614561
727676	SNORD118	HP:0003593	Infantile onset	19/37	OMIM:614561
727676	SNORD118	HP:0003676	Progressive	-	OMIM:614561
727676	SNORD118	HP:0002352	Leukoencephalopathy	-	OMIM:614561
727676	SNORD118	HP:0002352	Leukoencephalopathy	HP:0040281	ORPHA:542310
727676	SNORD118	HP:0002301	Hemiplegia	2/40	OMIM:614561
727676	SNORD118	HP:0003621	Juvenile onset	8/37	OMIM:614561
727676	SNORD118	HP:0000712	Emotional lability	HP:0040282	ORPHA:542310
727676	SNORD118	HP:0000725	Psychotic episodes	HP:0040284	ORPHA:542310
727676	SNORD118	HP:0011463	Childhood onset	7/37	OMIM:614561
727676	SNORD118	HP:0011462	Young adult onset	1/37	OMIM:614561
727676	SNORD118	HP:0100320	Rosenthal fibers	HP:0040282	ORPHA:542310
727676	SNORD118	HP:0011153	Focal motor seizure	HP:0040283	ORPHA:542310
727857	BHLHA9	HP:0001177	Preaxial hand polydactyly	HP:0040283	ORPHA:3329
727857	BHLHA9	HP:0001171	Split hand	HP:0040281	ORPHA:3329
727857	BHLHA9	HP:0001156	Brachydactyly	HP:0040283	ORPHA:3329
727857	BHLHA9	HP:0001162	Postaxial hand polydactyly	HP:0040283	ORPHA:3329
727857	BHLHA9	HP:0001159	Syndactyly	1/1	OMIM:607539
727857	BHLHA9	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
727857	BHLHA9	HP:0001293	Cranial nerve compression	-	OMIM:131300
727857	BHLHA9	HP:0001252	Hypotonia	2/7	OMIM:615777
727857	BHLHA9	HP:0001249	Intellectual disability	5/7	OMIM:615777
727857	BHLHA9	HP:0001263	Global developmental delay	-	OMIM:615777
727857	BHLHA9	HP:0006101	Finger syndactyly	HP:0040281	ORPHA:157801
727857	BHLHA9	HP:0006101	Finger syndactyly	HP:0040283	ORPHA:3329
727857	BHLHA9	HP:0002515	Waddling gait	54/102	OMIM:131300
727857	BHLHA9	HP:0006097	3-4 finger osseus syndactyly	-	OMIM:609432
727857	BHLHA9	HP:0001376	Limitation of joint mobility	HP:0040282	ORPHA:3329
727857	BHLHA9	HP:0001382	Joint hypermobility	-	OMIM:615777
727857	BHLHA9	HP:0002694	Sclerosis of skull base	-	OMIM:131300
727857	BHLHA9	HP:0008897	Postnatal growth retardation	-	OMIM:615777
727857	BHLHA9	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
727857	BHLHA9	HP:0001324	Muscle weakness	40/96	OMIM:131300
727857	BHLHA9	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
727857	BHLHA9	HP:0000007	Autosomal recessive inheritance	-	OMIM:609432
727857	BHLHA9	HP:0000007	Autosomal recessive inheritance	-	OMIM:607539
727857	BHLHA9	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
727857	BHLHA9	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
727857	BHLHA9	HP:0002650	Scoliosis	12/14	OMIM:131300
727857	BHLHA9	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
727857	BHLHA9	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
727857	BHLHA9	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
727857	BHLHA9	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
727857	BHLHA9	HP:0000175	Cleft palate	2/7	OMIM:615777
727857	BHLHA9	HP:0004691	2-3 toe syndactyly	HP:0040281	ORPHA:157801
727857	BHLHA9	HP:0003388	Easy fatigability	36/76	OMIM:131300
727857	BHLHA9	HP:0010443	Bifid femur	HP:0040281	ORPHA:1986
727857	BHLHA9	HP:0010442	Polydactyly	1/1	OMIM:607539
727857	BHLHA9	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
727857	BHLHA9	HP:0009601	Aplasia/Hypoplasia of the thumb	-	OMIM:609432
727857	BHLHA9	HP:0002164	Nail dysplasia	-	OMIM:607539
727857	BHLHA9	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	-	OMIM:609432
727857	BHLHA9	HP:0003577	Congenital onset	-	OMIM:609432
727857	BHLHA9	HP:0003577	Congenital onset	1/1	OMIM:607539
727857	BHLHA9	HP:0100797	Toenail dysplasia	1/1	OMIM:607539
727857	BHLHA9	HP:0009701	Metacarpal synostosis	HP:0040281	ORPHA:157801
727857	BHLHA9	HP:0008362	Aplasia/Hypoplasia of the hallux	HP:0040281	ORPHA:157801
727857	BHLHA9	HP:0008362	Aplasia/Hypoplasia of the hallux	-	OMIM:609432
727857	BHLHA9	HP:0003510	Severe short stature	7/7	OMIM:615777
727857	BHLHA9	HP:0002315	Headache	-	OMIM:131300
727857	BHLHA9	HP:0004976	Knee dislocation	6/7	OMIM:615777
727857	BHLHA9	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	HP:0040281	ORPHA:157801
727857	BHLHA9	HP:0009803	Short phalanx of finger	-	OMIM:615777
727857	BHLHA9	HP:0009773	Symphalangism affecting the phalanges of the hand	HP:0040281	ORPHA:157801
727857	BHLHA9	HP:0009778	Short thumb	HP:0040281	ORPHA:157801
727857	BHLHA9	HP:0009763	Limb pain	63/92	OMIM:131300
727857	BHLHA9	HP:0009756	Popliteal pterygium	HP:0040283	ORPHA:3329
727857	BHLHA9	HP:0003621	Juvenile onset	-	OMIM:131300
727857	BHLHA9	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
727857	BHLHA9	HP:0004209	Clinodactyly of the 5th finger	HP:0040281	ORPHA:157801
727857	BHLHA9	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:609432
727857	BHLHA9	HP:0010064	Symphalangism affecting the phalanges of the hallux	-	OMIM:609432
727857	BHLHA9	HP:0004279	Short palm	HP:0040281	ORPHA:157801
727857	BHLHA9	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
727857	BHLHA9	HP:6001056	Out-toeing	-	OMIM:131300
727857	BHLHA9	HP:0000651	Diplopia	-	OMIM:131300
727857	BHLHA9	HP:0001956	Truncal obesity	2/7	OMIM:615777
727857	BHLHA9	HP:0001903	Anemia	HP:0040283	OMIM:131300
727857	BHLHA9	HP:0010049	Short metacarpal	-	OMIM:615777
727857	BHLHA9	HP:0000678	Dental crowding	-	OMIM:615777
727857	BHLHA9	HP:0000670	Carious teeth	-	OMIM:131300
727857	BHLHA9	HP:0011304	Broad thumb	2/7	OMIM:615777
727857	BHLHA9	HP:0000668	Hypodontia	-	OMIM:615777
727857	BHLHA9	HP:0000664	Synophrys	-	OMIM:615777
727857	BHLHA9	HP:0004396	Poor appetite	-	OMIM:131300
727857	BHLHA9	HP:0003038	Fibular hypoplasia	HP:0040283	ORPHA:3329
727857	BHLHA9	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
727857	BHLHA9	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
727857	BHLHA9	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
727857	BHLHA9	HP:0003026	Short long bone	7/7	OMIM:615777
727857	BHLHA9	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
727857	BHLHA9	HP:0000767	Pectus excavatum	2/7	OMIM:615777
727857	BHLHA9	HP:0000768	Pectus carinatum	1/7	OMIM:615777
727857	BHLHA9	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
727857	BHLHA9	HP:0012725	Cutaneous syndactyly	-	OMIM:607539
727857	BHLHA9	HP:0000750	Delayed speech and language development	-	OMIM:615777
727857	BHLHA9	HP:0009177	Proximal/middle symphalangism of 5th finger	-	OMIM:609432
727857	BHLHA9	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	-	OMIM:609432
727857	BHLHA9	HP:0011461	Fetal onset	7/7	OMIM:615777
727857	BHLHA9	HP:0010109	Short hallux	HP:0040281	ORPHA:157801
727857	BHLHA9	HP:0000774	Narrow chest	2/7	OMIM:615777
727857	BHLHA9	HP:0005772	Aplasia/Hypoplasia of the tibia	HP:0040282	ORPHA:3329
727857	BHLHA9	HP:0005772	Aplasia/Hypoplasia of the tibia	HP:0040281	ORPHA:1986
727857	BHLHA9	HP:0000926	Platyspondyly	1/7	OMIM:615777
727857	BHLHA9	HP:0003180	Flat acetabular roof	-	OMIM:615777
727857	BHLHA9	HP:0004482	Relative macrocephaly	-	OMIM:615777
727857	BHLHA9	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
727857	BHLHA9	HP:0003097	Short femur	HP:0040283	ORPHA:3329
727857	BHLHA9	HP:0000823	Delayed puberty	-	OMIM:131300
727857	BHLHA9	HP:0000894	Short clavicles	-	OMIM:615777
727857	BHLHA9	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
727857	BHLHA9	HP:0100257	Ectrodactyly	HP:0040282	ORPHA:3329
727857	BHLHA9	HP:0100257	Ectrodactyly	HP:0040281	ORPHA:1986
727857	BHLHA9	HP:0000954	Single transverse palmar crease	-	OMIM:609432
727857	BHLHA9	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
727857	BHLHA9	HP:0000286	Epicanthus	1/7	OMIM:615777
727857	BHLHA9	HP:0000280	Coarse facial features	2/7	OMIM:615777
727857	BHLHA9	HP:0006443	Patellar aplasia	HP:0040283	ORPHA:3329
727857	BHLHA9	HP:0002827	Hip dislocation	3/7	OMIM:615777
727857	BHLHA9	HP:0002823	Abnormal femur morphology	HP:0040283	ORPHA:3329
727857	BHLHA9	HP:0005048	Synostosis of carpal bones	HP:0040282	ORPHA:157801
727857	BHLHA9	HP:0000252	Microcephaly	-	OMIM:615777
727857	BHLHA9	HP:0002857	Genu valgum	-	OMIM:131300
727857	BHLHA9	HP:0001539	Omphalocele	HP:0040283	ORPHA:3329
727857	BHLHA9	HP:0001533	Slender build	-	OMIM:131300
727857	BHLHA9	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
727857	BHLHA9	HP:0007807	Optic nerve compression	-	OMIM:131300
727857	BHLHA9	HP:0012385	Camptodactyly	1/1	OMIM:607539
727857	BHLHA9	HP:0012368	Flat face	7/7	OMIM:615777
727857	BHLHA9	HP:0000396	Overfolded helix	HP:0040283	ORPHA:3329
727857	BHLHA9	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
727857	BHLHA9	HP:0006495	Aplasia/Hypoplasia of the ulna	HP:0040283	ORPHA:3329
727857	BHLHA9	HP:0006495	Aplasia/Hypoplasia of the ulna	HP:0040282	ORPHA:1986
727857	BHLHA9	HP:0000365	Hearing impairment	10/67	OMIM:131300
727857	BHLHA9	HP:0000343	Long philtrum	1/7	OMIM:615777
727857	BHLHA9	HP:0011001	Increased bone mineral density	-	OMIM:131300
727857	BHLHA9	HP:0002980	Femoral bowing	HP:0040283	ORPHA:3329
727857	BHLHA9	HP:0000311	Round face	2/7	OMIM:615777
727857	BHLHA9	HP:0002991	Abnormal fibula morphology	HP:0040283	ORPHA:3329
727857	BHLHA9	HP:0002970	Genu varum	-	OMIM:615777
727857	BHLHA9	HP:0000303	Mandibular prognathia	-	OMIM:131300
727857	BHLHA9	HP:0004058	Hand monodactyly	HP:0040281	ORPHA:1986
727857	BHLHA9	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
727857	BHLHA9	HP:0001792	Small nail	-	OMIM:607539
727857	BHLHA9	HP:0000470	Short neck	1/7	OMIM:615777
727857	BHLHA9	HP:0001770	Toe syndactyly	HP:0040281	ORPHA:157801
727857	BHLHA9	HP:0001769	Broad foot	HP:0040283	OMIM:615777
727857	BHLHA9	HP:0001763	Pes planus	1/7	OMIM:615777
727857	BHLHA9	HP:0001840	Metatarsus adductus	-	OMIM:615777
727857	BHLHA9	HP:0000520	Proptosis	2/4	OMIM:131300
727857	BHLHA9	HP:0000520	Proptosis	7/7	OMIM:615777
727857	BHLHA9	HP:0000592	Blue sclerae	2/7	OMIM:615777
727857	BHLHA9	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
727857	BHLHA9	HP:0012514	Lower limb pain	4/4	OMIM:131300
727897	MUC5B	HP:0025175	Honeycomb lung	HP:0040282	ORPHA:2032
727897	MUC5B	HP:0025179	Ground-glass opacification	HP:0040282	ORPHA:2032
727897	MUC5B	HP:0032341	Reduced forced vital capacity	HP:0040282	ORPHA:2032
727897	MUC5B	HP:0001394	Cirrhosis	-	OMIM:178500
727897	MUC5B	HP:0025390	Reticular pattern on pulmonary HRCT	HP:0040282	ORPHA:2032
727897	MUC5B	HP:0000006	Autosomal dominant inheritance	-	OMIM:178500
727897	MUC5B	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2032
727897	MUC5B	HP:0002094	Dyspnea	-	OMIM:178500
727897	MUC5B	HP:0002092	Pulmonary arterial hypertension	-	OMIM:178500
727897	MUC5B	HP:0010444	Pulmonic regurgitation	HP:0040283	ORPHA:2032
727897	MUC5B	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:2032
727897	MUC5B	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:2032
727897	MUC5B	HP:0002206	Pulmonary fibrosis	11/15	OMIM:178500
727897	MUC5B	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:2032
727897	MUC5B	HP:0010702	Increased circulating immunoglobulin concentration	-	OMIM:178500
727897	MUC5B	HP:0100759	Clubbing of fingers	HP:0040282	ORPHA:2032
727897	MUC5B	HP:0100759	Clubbing of fingers	50%	OMIM:178500
727897	MUC5B	HP:0033367	Orthodeoxia	HP:0040283	ORPHA:2032
727897	MUC5B	HP:0001063	Acrocyanosis	HP:0040282	ORPHA:2032
727897	MUC5B	HP:0031950	Usual interstitial pneumonia	HP:0040282	ORPHA:2032
727897	MUC5B	HP:0031950	Usual interstitial pneumonia	-	OMIM:178500
727897	MUC5B	HP:0012735	Cough	-	OMIM:178500
727897	MUC5B	HP:0012735	Cough	HP:0040282	ORPHA:2032
727897	MUC5B	HP:0045051	Decreased DLCO	-	OMIM:178500
727897	MUC5B	HP:0045051	Decreased DLCO	HP:0040282	ORPHA:2032
727897	MUC5B	HP:0030830	Crackles	HP:0040282	ORPHA:2032
727897	MUC5B	HP:0002875	Exertional dyspnea	-	OMIM:178500
727897	MUC5B	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:2032
727897	MUC5B	HP:0012378	Fatigue	HP:0040282	ORPHA:2032
727897	MUC5B	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040281	ORPHA:2032
727897	MUC5B	HP:0006519	Alveolar cell carcinoma	-	OMIM:178500
727897	MUC5B	HP:0031631	Subpleural honeycombing	HP:0040282	ORPHA:2032
727897	MUC5B	HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion	-	OMIM:178500
728294	D2HGDH	HP:0002416	Subependymal cysts	-	OMIM:600721
728294	D2HGDH	HP:0001250	Seizure	-	OMIM:600721
728294	D2HGDH	HP:0001252	Hypotonia	1/2	OMIM:600721
728294	D2HGDH	HP:0001249	Intellectual disability	-	OMIM:600721
728294	D2HGDH	HP:0001263	Global developmental delay	2/2	OMIM:600721
728294	D2HGDH	HP:0002572	Episodic vomiting	1/2	OMIM:600721
728294	D2HGDH	HP:0002521	Hypsarrhythmia	1/2	OMIM:600721
728294	D2HGDH	HP:0001324	Muscle weakness	-	OMIM:600721
728294	D2HGDH	HP:0000007	Autosomal recessive inheritance	-	OMIM:600721
728294	D2HGDH	HP:0002007	Frontal bossing	-	OMIM:600721
728294	D2HGDH	HP:0002069	Bilateral tonic-clonic seizure	2/2	OMIM:600721
728294	D2HGDH	HP:0002104	Apnea	-	OMIM:600721
728294	D2HGDH	HP:6000246	Elevated CSF D-2-hydroxyglutaric acid concentration	20/20	OMIM:600721
728294	D2HGDH	HP:0002188	Delayed CNS myelination	-	OMIM:600721
728294	D2HGDH	HP:0003593	Infantile onset	2/2	OMIM:600721
728294	D2HGDH	HP:0100704	Cerebral visual impairment	1/2	OMIM:600721
728294	D2HGDH	HP:0007052	Multifocal cerebral white matter abnormalities	-	OMIM:600721
728294	D2HGDH	HP:0007105	Infantile encephalopathy	-	OMIM:600721
728294	D2HGDH	HP:0006956	Lateral ventricle dilatation	-	OMIM:600721
728294	D2HGDH	HP:0003150	Glutaric aciduria	-	OMIM:600721
728294	D2HGDH	HP:0000256	Macrocephaly	-	OMIM:600721
728294	D2HGDH	HP:0012321	D-2-hydroxyglutaric aciduria	2/2	OMIM:600721
728294	D2HGDH	HP:0032792	Tonic seizure	1/2	OMIM:600721
728294	D2HGDH	HP:0000347	Micrognathia	1/2	OMIM:600721
728294	D2HGDH	HP:0032794	Myoclonic seizure	1/2	OMIM:600721
728294	D2HGDH	HP:0001659	Aortic regurgitation	-	OMIM:600721
728294	D2HGDH	HP:0001638	Cardiomyopathy	-	OMIM:600721
728294	D2HGDH	HP:0005348	Inspiratory stridor	-	OMIM:600721
728294	D2HGDH	HP:0012469	Infantile spasms	1/2	OMIM:600721
728294	D2HGDH	HP:0011220	Prominent forehead	1/2	OMIM:600721
729230	CCR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:219600
729230	CCR2	HP:0002719	Recurrent infections	-	OMIM:219600
729230	CCR2	HP:0005948	Multiple pulmonary cysts	-	OMIM:219600
729230	CCR2	HP:0004876	Spontaneous neonatal pneumothorax	-	OMIM:219600
729238	SFTPA2	HP:0025175	Honeycomb lung	HP:0040282	ORPHA:2032
729238	SFTPA2	HP:0025179	Ground-glass opacification	HP:0040282	ORPHA:2032
729238	SFTPA2	HP:0032341	Reduced forced vital capacity	HP:0040282	ORPHA:2032
729238	SFTPA2	HP:0001394	Cirrhosis	-	OMIM:178500
729238	SFTPA2	HP:0025390	Reticular pattern on pulmonary HRCT	HP:0040282	ORPHA:2032
729238	SFTPA2	HP:0000006	Autosomal dominant inheritance	-	OMIM:178500
729238	SFTPA2	HP:0002020	Gastroesophageal reflux	HP:0040282	ORPHA:2032
729238	SFTPA2	HP:0002094	Dyspnea	-	OMIM:178500
729238	SFTPA2	HP:0002092	Pulmonary arterial hypertension	-	OMIM:178500
729238	SFTPA2	HP:0010444	Pulmonic regurgitation	HP:0040283	ORPHA:2032
729238	SFTPA2	HP:0002110	Bronchiectasis	HP:0040282	ORPHA:2032
729238	SFTPA2	HP:0003546	Exercise intolerance	HP:0040283	ORPHA:2032
729238	SFTPA2	HP:0002206	Pulmonary fibrosis	11/15	OMIM:178500
729238	SFTPA2	HP:0002206	Pulmonary fibrosis	HP:0040282	ORPHA:2032
729238	SFTPA2	HP:0010702	Increased circulating immunoglobulin concentration	-	OMIM:178500
729238	SFTPA2	HP:0100759	Clubbing of fingers	HP:0040282	ORPHA:2032
729238	SFTPA2	HP:0100759	Clubbing of fingers	50%	OMIM:178500
729238	SFTPA2	HP:0033367	Orthodeoxia	HP:0040283	ORPHA:2032
729238	SFTPA2	HP:0001063	Acrocyanosis	HP:0040282	ORPHA:2032
729238	SFTPA2	HP:0031950	Usual interstitial pneumonia	HP:0040282	ORPHA:2032
729238	SFTPA2	HP:0031950	Usual interstitial pneumonia	-	OMIM:178500
729238	SFTPA2	HP:0012735	Cough	-	OMIM:178500
729238	SFTPA2	HP:0012735	Cough	HP:0040282	ORPHA:2032
729238	SFTPA2	HP:0045051	Decreased DLCO	-	OMIM:178500
729238	SFTPA2	HP:0045051	Decreased DLCO	HP:0040282	ORPHA:2032
729238	SFTPA2	HP:0030830	Crackles	HP:0040282	ORPHA:2032
729238	SFTPA2	HP:0002875	Exertional dyspnea	-	OMIM:178500
729238	SFTPA2	HP:0002875	Exertional dyspnea	HP:0040282	ORPHA:2032
729238	SFTPA2	HP:0012378	Fatigue	HP:0040282	ORPHA:2032
729238	SFTPA2	HP:0006530	Abnormal pulmonary interstitial morphology	HP:0040281	ORPHA:2032
729238	SFTPA2	HP:0006519	Alveolar cell carcinoma	-	OMIM:178500
729238	SFTPA2	HP:0031631	Subpleural honeycombing	HP:0040282	ORPHA:2032
729238	SFTPA2	HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion	-	OMIM:178500
729359	PLIN4	HP:0002460	Distal muscle weakness	-	OMIM:601846
729359	PLIN4	HP:0003722	Neck flexor weakness	-	OMIM:601846
729359	PLIN4	HP:0003828	Variable expressivity	-	OMIM:601846
729359	PLIN4	HP:0003805	Rimmed vacuoles	-	OMIM:601846
729359	PLIN4	HP:0000006	Autosomal dominant inheritance	-	OMIM:601846
729359	PLIN4	HP:0002015	Dysphagia	-	OMIM:601846
729359	PLIN4	HP:0003581	Adult onset	-	OMIM:601846
729359	PLIN4	HP:0003555	Muscle fiber splitting	-	OMIM:601846
729359	PLIN4	HP:0003547	Shoulder girdle muscle weakness	-	OMIM:601846
729359	PLIN4	HP:0003560	Muscular dystrophy	-	OMIM:601846
729359	PLIN4	HP:0003691	Scapular winging	-	OMIM:601846
729359	PLIN4	HP:0003687	Centrally nucleated skeletal muscle fibers	-	OMIM:601846
729359	PLIN4	HP:0009027	Foot dorsiflexor weakness	-	OMIM:601846
729359	PLIN4	HP:0003236	Elevated circulating creatine kinase concentration	-	OMIM:601846
729359	PLIN4	HP:0001618	Dysphonia	-	OMIM:601846
729359	PLIN4	HP:0001761	Pes cavus	-	OMIM:601846
729920	CRPPA	HP:0001181	Adducted thumb	-	OMIM:614643
729920	CRPPA	HP:0003797	Limb-girdle muscle atrophy	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0002435	Meningocele	HP:0040283	ORPHA:588
729920	CRPPA	HP:0007260	Type II lissencephaly	6/6	OMIM:614643
729920	CRPPA	HP:0008551	Microtia	-	OMIM:614643
729920	CRPPA	HP:0003707	Calf muscle pseudohypertrophy	HP:0040282	ORPHA:352479
729920	CRPPA	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0001290	Generalized hypotonia	-	OMIM:614643
729920	CRPPA	HP:0001276	Hypertonia	HP:0040282	ORPHA:588
729920	CRPPA	HP:0001272	Cerebellar atrophy	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0001274	Agenesis of corpus callosum	HP:0040282	ORPHA:899
729920	CRPPA	HP:0001270	Motor delay	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0001288	Gait disturbance	HP:0040281	ORPHA:588
729920	CRPPA	HP:0001288	Gait disturbance	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0001284	Areflexia	-	OMIM:614643
729920	CRPPA	HP:0001284	Areflexia	HP:0040281	ORPHA:899
729920	CRPPA	HP:0001250	Seizure	HP:0040282	ORPHA:588
729920	CRPPA	HP:0001250	Seizure	HP:0040283	ORPHA:899
729920	CRPPA	HP:0001252	Hypotonia	-	OMIM:614643
729920	CRPPA	HP:0001252	Hypotonia	HP:0040282	ORPHA:588
729920	CRPPA	HP:0001252	Hypotonia	HP:0040281	ORPHA:899
729920	CRPPA	HP:0001249	Intellectual disability	-	ORPHA:370980
729920	CRPPA	HP:0001249	Intellectual disability	HP:0040281	ORPHA:899
729920	CRPPA	HP:0001265	Hyporeflexia	HP:0040281	ORPHA:899
729920	CRPPA	HP:0001263	Global developmental delay	HP:0040281	ORPHA:899
729920	CRPPA	HP:0008736	Hypoplasia of penis	HP:0040282	ORPHA:899
729920	CRPPA	HP:0032391	Subcortical heterotopia	2/6	OMIM:614643
729920	CRPPA	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:588
729920	CRPPA	HP:0007340	Lower limb muscle weakness	4/4	OMIM:616052
729920	CRPPA	HP:0002536	Abnormal cortical gyration	HP:0040281	ORPHA:899
729920	CRPPA	HP:0002505	Loss of ambulation	3/4	OMIM:616052
729920	CRPPA	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:352479
729920	CRPPA	HP:0002500	Abnormal cerebral white matter morphology	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0032341	Reduced forced vital capacity	4/4	OMIM:616052
729920	CRPPA	HP:0003819	Death in childhood	2/5	OMIM:614643
729920	CRPPA	HP:0001349	Facial diplegia	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0001360	Holoprosencephaly	HP:0040283	ORPHA:588
729920	CRPPA	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:899
729920	CRPPA	HP:0001331	Absent septum pellucidum	HP:0040282	ORPHA:899
729920	CRPPA	HP:0001328	Specific learning disability	HP:0040281	ORPHA:899
729920	CRPPA	HP:0001324	Muscle weakness	-	OMIM:616052
729920	CRPPA	HP:0001324	Muscle weakness	HP:0040281	ORPHA:899
729920	CRPPA	HP:0001339	Lissencephaly	HP:0040281	ORPHA:899
729920	CRPPA	HP:0001339	Lissencephaly	-	OMIM:614643
729920	CRPPA	HP:0001338	Partial agenesis of the corpus callosum	1/6	OMIM:614643
729920	CRPPA	HP:0000007	Autosomal recessive inheritance	-	OMIM:614643
729920	CRPPA	HP:0000007	Autosomal recessive inheritance	-	OMIM:616052
729920	CRPPA	HP:0001305	Dandy-Walker malformation	HP:0040282	ORPHA:899
729920	CRPPA	HP:0001305	Dandy-Walker malformation	-	OMIM:614643
729920	CRPPA	HP:0001302	Pachygyria	HP:0040281	ORPHA:899
729920	CRPPA	HP:0001302	Pachygyria	HP:0040284	ORPHA:370980
729920	CRPPA	HP:0001302	Pachygyria	-	OMIM:614643
729920	CRPPA	HP:0001321	Cerebellar hypoplasia	5/6	OMIM:614643
729920	CRPPA	HP:0001321	Cerebellar hypoplasia	HP:0040281	ORPHA:899
729920	CRPPA	HP:0001319	Neonatal hypotonia	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0000193	Bifid uvula	HP:0040283	ORPHA:899
729920	CRPPA	HP:0000158	Macroglossia	-	OMIM:616052
729920	CRPPA	HP:0000158	Macroglossia	HP:0040282	ORPHA:352479
729920	CRPPA	HP:0000176	Submucous cleft hard palate	HP:0040283	ORPHA:899
729920	CRPPA	HP:0000175	Cleft palate	HP:0040283	ORPHA:899
729920	CRPPA	HP:0008994	Proximal muscle weakness in lower limbs	HP:0040282	ORPHA:352479
729920	CRPPA	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040282	ORPHA:352479
729920	CRPPA	HP:0008981	Calf muscle hypertrophy	4/4	OMIM:616052
729920	CRPPA	HP:0002792	Reduced vital capacity	HP:0040282	ORPHA:352479
729920	CRPPA	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	HP:0040281	ORPHA:899
729920	CRPPA	HP:0002751	Kyphoscoliosis	HP:0040283	ORPHA:370980
729920	CRPPA	HP:0003325	Limb-girdle muscle weakness	HP:0040281	ORPHA:352479
729920	CRPPA	HP:0003326	Myalgia	HP:0040283	ORPHA:352479
729920	CRPPA	HP:0003326	Myalgia	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0002007	Frontal bossing	-	OMIM:614643
729920	CRPPA	HP:0003324	Generalized muscle weakness	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0002084	Encephalocele	-	OMIM:614643
729920	CRPPA	HP:0100543	Cognitive impairment	HP:0040281	ORPHA:588
729920	CRPPA	HP:0003394	Muscle spasm	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0002079	Hypoplasia of the corpus callosum	2/6	OMIM:614643
729920	CRPPA	HP:0008180	Mildly elevated creatine kinase	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0002119	Ventriculomegaly	HP:0040281	ORPHA:899
729920	CRPPA	HP:0002119	Ventriculomegaly	HP:0040284	ORPHA:370980
729920	CRPPA	HP:0002119	Ventriculomegaly	-	OMIM:614643
729920	CRPPA	HP:0003457	EMG abnormality	HP:0040281	ORPHA:588
729920	CRPPA	HP:0002126	Polymicrogyria	HP:0040281	ORPHA:899
729920	CRPPA	HP:0002126	Polymicrogyria	-	OMIM:614643
729920	CRPPA	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0002187	Intellectual disability, profound	-	OMIM:614643
729920	CRPPA	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:588
729920	CRPPA	HP:0010508	Metatarsus valgus	HP:0040281	ORPHA:899
729920	CRPPA	HP:0002269	Abnormality of neuronal migration	HP:0040281	ORPHA:899
729920	CRPPA	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:899
729920	CRPPA	HP:0003560	Muscular dystrophy	HP:0040281	ORPHA:370980
729920	CRPPA	HP:0003560	Muscular dystrophy	-	OMIM:614643
729920	CRPPA	HP:0002282	Gray matter heterotopia	-	OMIM:614643
729920	CRPPA	HP:0002282	Gray matter heterotopia	HP:0040284	ORPHA:370980
729920	CRPPA	HP:0008305	Exercise-induced myoglobinuria	HP:0040283	ORPHA:352479
729920	CRPPA	HP:0002365	Hypoplasia of the brainstem	3/6	OMIM:614643
729920	CRPPA	HP:0003691	Scapular winging	4/4	OMIM:616052
729920	CRPPA	HP:0003691	Scapular winging	HP:0040283	ORPHA:352479
729920	CRPPA	HP:0002359	Frequent falls	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0002353	EEG abnormality	HP:0040281	ORPHA:588
729920	CRPPA	HP:0002350	Cerebellar cyst	HP:0040283	ORPHA:370980
729920	CRPPA	HP:0003677	Slowly progressive	-	OMIM:616052
729920	CRPPA	HP:0002334	Abnormal cerebellar vermis morphology	HP:0040281	ORPHA:899
729920	CRPPA	HP:0007126	Proximal amyotrophy	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0031882	Agyria	-	OMIM:614643
729920	CRPPA	HP:0000648	Optic atrophy	HP:0040281	ORPHA:588
729920	CRPPA	HP:0000648	Optic atrophy	HP:0040281	ORPHA:899
729920	CRPPA	HP:0000612	Iris coloboma	HP:0040283	ORPHA:899
729920	CRPPA	HP:0000609	Optic nerve hypoplasia	2/6	OMIM:614643
729920	CRPPA	HP:0000659	Peters anomaly	1/6	OMIM:614643
729920	CRPPA	HP:0004374	Hemiplegia/hemiparesis	HP:0040283	ORPHA:588
729920	CRPPA	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:588
729920	CRPPA	HP:0011463	Childhood onset	4/4	OMIM:616052
729920	CRPPA	HP:0011446	Abnormality of mental function	HP:0040284	ORPHA:352479
729920	CRPPA	HP:0003198	Myopathy	HP:0040281	ORPHA:588
729920	CRPPA	HP:0040081	Abnormal circulating creatine kinase concentration	HP:0040281	ORPHA:899
729920	CRPPA	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:588
729920	CRPPA	HP:0003236	Elevated circulating creatine kinase concentration	4/4	OMIM:616052
729920	CRPPA	HP:0003236	Elevated circulating creatine kinase concentration	6/6	OMIM:614643
729920	CRPPA	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:899
729920	CRPPA	HP:0003202	Skeletal muscle atrophy	HP:0040282	ORPHA:352479
729920	CRPPA	HP:0045040	Abnormal circulating lactate dehydrogenase concentration	HP:0040281	ORPHA:899
729920	CRPPA	HP:0000278	Retrognathia	-	OMIM:614643
729920	CRPPA	HP:0000256	Macrocephaly	HP:0040282	ORPHA:899
729920	CRPPA	HP:0000256	Macrocephaly	-	OMIM:614643
729920	CRPPA	HP:0007731	Chorioretinal dysplasia	HP:0040281	ORPHA:899
729920	CRPPA	HP:0030099	Reduced muscle fiber alpha dystroglycan	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:588
729920	CRPPA	HP:0000238	Hydrocephalus	HP:0040281	ORPHA:899
729920	CRPPA	HP:0000238	Hydrocephalus	6/6	OMIM:614643
729920	CRPPA	HP:0000252	Microcephaly	HP:0040283	ORPHA:370980
729920	CRPPA	HP:0000252	Microcephaly	HP:0040283	ORPHA:899
729920	CRPPA	HP:0001558	Decreased fetal movement	-	OMIM:614643
729920	CRPPA	HP:0001522	Death in infancy	3/5	OMIM:614643
729920	CRPPA	HP:0030046	Hypoglycosylation of alpha-dystroglycan	-	OMIM:616052
729920	CRPPA	HP:0030046	Hypoglycosylation of alpha-dystroglycan	HP:0040281	ORPHA:352479
729920	CRPPA	HP:0030051	Tip-toe gait	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0001608	Abnormality of the voice	HP:0040282	ORPHA:588
729920	CRPPA	HP:0000358	Posteriorly rotated ears	HP:0040283	ORPHA:899
729920	CRPPA	HP:0000369	Low-set ears	HP:0040283	ORPHA:899
729920	CRPPA	HP:0000369	Low-set ears	-	OMIM:614643
729920	CRPPA	HP:0001626	Abnormality of the cardiovascular system	HP:0040282	ORPHA:352479
729920	CRPPA	HP:0007957	Corneal opacity	HP:0040282	ORPHA:899
729920	CRPPA	HP:0007968	Remnants of the hyaloid vascular system	1/6	OMIM:614643
729920	CRPPA	HP:0007973	Retinal dysplasia	-	OMIM:614643
729920	CRPPA	HP:0007973	Retinal dysplasia	HP:0040281	ORPHA:899
729920	CRPPA	HP:0000486	Strabismus	HP:0040281	ORPHA:588
729920	CRPPA	HP:0000482	Microcornea	HP:0040283	ORPHA:899
729920	CRPPA	HP:0000478	Abnormality of the eye	HP:0040284	ORPHA:352479
729920	CRPPA	HP:0000490	Deeply set eye	-	OMIM:614643
729920	CRPPA	HP:0030234	Highly elevated creatine kinase	HP:0040282	ORPHA:352479
729920	CRPPA	HP:0001771	Achilles tendon contracture	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0012400	Abnormal circulating aldolase concentration	HP:0040281	ORPHA:899
729920	CRPPA	HP:0000411	Protruding ear	HP:0040283	ORPHA:899
729920	CRPPA	HP:0006785	Limb-girdle muscular dystrophy	-	OMIM:616052
729920	CRPPA	HP:0000518	Cataract	HP:0040282	ORPHA:588
729920	CRPPA	HP:0000518	Cataract	HP:0040283	ORPHA:899
729920	CRPPA	HP:0000518	Cataract	4/6	OMIM:614643
729920	CRPPA	HP:0000528	Anophthalmia	HP:0040282	ORPHA:899
729920	CRPPA	HP:0000505	Visual impairment	HP:0040281	ORPHA:588
729920	CRPPA	HP:0000501	Glaucoma	HP:0040281	ORPHA:588
729920	CRPPA	HP:0000501	Glaucoma	-	OMIM:614643
729920	CRPPA	HP:0000501	Glaucoma	HP:0040282	ORPHA:899
729920	CRPPA	HP:0000587	Abnormal optic nerve morphology	HP:0040281	ORPHA:899
729920	CRPPA	HP:0012548	Fatty replacement of skeletal muscle	HP:0040282	ORPHA:370980
729920	CRPPA	HP:0000556	Retinal dystrophy	HP:0040281	ORPHA:899
729920	CRPPA	HP:0000568	Microphthalmia	3/6	OMIM:614643
729920	CRPPA	HP:0000568	Microphthalmia	HP:0040282	ORPHA:899
729920	CRPPA	HP:0000541	Retinal detachment	HP:0040281	ORPHA:899
729920	CRPPA	HP:0000541	Retinal detachment	1/6	OMIM:614643
729920	CRPPA	HP:0000545	Myopia	HP:0040281	ORPHA:588
768206	PRCD	HP:0001133	Constriction of peripheral visual field	10/10	OMIM:180100
768206	PRCD	HP:0001105	Retinal atrophy	HP:0040282	ORPHA:791
768206	PRCD	HP:0000007	Autosomal recessive inheritance	-	OMIM:180100
768206	PRCD	HP:0000007	Autosomal recessive inheritance	-	OMIM:610599
768206	PRCD	HP:0000006	Autosomal dominant inheritance	-	OMIM:180100
768206	PRCD	HP:0007688	Undetectable light- and dark-adapted electroretinogram	-	OMIM:180100
768206	PRCD	HP:0007675	Progressive night blindness	HP:0040281	ORPHA:791
768206	PRCD	HP:0007663	Reduced visual acuity	16/18	OMIM:180100
768206	PRCD	HP:0007663	Reduced visual acuity	HP:0040283	ORPHA:791
768206	PRCD	HP:0003621	Juvenile onset	8/19	OMIM:180100
768206	PRCD	HP:0000639	Nystagmus	HP:0040281	ORPHA:791
768206	PRCD	HP:0000648	Optic atrophy	HP:0040281	ORPHA:791
768206	PRCD	HP:0000618	Blindness	HP:0040281	ORPHA:791
768206	PRCD	HP:0000613	Photophobia	HP:0040281	ORPHA:791
768206	PRCD	HP:0000608	Macular degeneration	-	OMIM:610599
768206	PRCD	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:791
768206	PRCD	HP:0030466	Abnormal full-field electroretinogram	HP:0040282	ORPHA:791
768206	PRCD	HP:0030488	Abnormal central response of multifocal electroretinogram	HP:0040282	ORPHA:791
768206	PRCD	HP:0000662	Nyctalopia	HP:0040282	ORPHA:791
768206	PRCD	HP:0000662	Nyctalopia	26/28	OMIM:180100
768206	PRCD	HP:0030610	Photoreceptor outer segment loss on macular OCT	HP:0040282	ORPHA:791
768206	PRCD	HP:0011463	Childhood onset	3/19	OMIM:180100
768206	PRCD	HP:0011462	Young adult onset	8/19	OMIM:180100
768206	PRCD	HP:0030786	Photopsia	HP:0040283	ORPHA:791
768206	PRCD	HP:0011505	Cystoid macular edema	HP:0040282	ORPHA:791
768206	PRCD	HP:0000842	Hyperinsulinemia	HP:0040282	ORPHA:791
768206	PRCD	HP:0008046	Abnormal retinal vascular morphology	HP:0040281	ORPHA:791
768206	PRCD	HP:0007703	Abnormality of retinal pigmentation	HP:0040281	ORPHA:791
768206	PRCD	HP:0007787	Posterior subcapsular cataract	HP:0040282	ORPHA:791
768206	PRCD	HP:0007737	Bone spicule pigmentation of the retina	HP:0040281	ORPHA:791
768206	PRCD	HP:0007737	Bone spicule pigmentation of the retina	1/1	OMIM:180100
768206	PRCD	HP:0007737	Bone spicule pigmentation of the retina	-	OMIM:610599
768206	PRCD	HP:0007843	Attenuation of retinal blood vessels	HP:0040282	ORPHA:791
768206	PRCD	HP:0007843	Attenuation of retinal blood vessels	-	OMIM:610599
768206	PRCD	HP:0007843	Attenuation of retinal blood vessels	10/10	OMIM:180100
768206	PRCD	HP:0007994	Peripheral visual field loss	HP:0040282	ORPHA:791
768206	PRCD	HP:0000407	Sensorineural hearing impairment	HP:0040281	ORPHA:791
768206	PRCD	HP:0000405	Conductive hearing impairment	HP:0040281	ORPHA:791
768206	PRCD	HP:0012426	Optic disc drusen	HP:0040282	ORPHA:791
768206	PRCD	HP:0000510	Rod-cone dystrophy	-	OMIM:610599
768206	PRCD	HP:0000510	Rod-cone dystrophy	-	OMIM:180100
768206	PRCD	HP:0000512	Abnormal electroretinogram	HP:0040281	ORPHA:791
768206	PRCD	HP:0000505	Visual impairment	HP:0040281	ORPHA:791
768206	PRCD	HP:0000501	Glaucoma	HP:0040282	ORPHA:791
768206	PRCD	HP:0000575	Scotoma	5/18	OMIM:180100
768206	PRCD	HP:0000563	Keratoconus	HP:0040282	ORPHA:791
768206	PRCD	HP:0000550	Undetectable electroretinogram	-	OMIM:610599
768206	PRCD	HP:0000551	Color vision defect	HP:0040283	ORPHA:791
768206	PRCD	HP:0000546	Retinal degeneration	HP:0040281	ORPHA:791
768206	PRCD	HP:0000543	Optic disc pallor	HP:0040282	ORPHA:791
768206	PRCD	HP:0000543	Optic disc pallor	-	OMIM:610599
768206	PRCD	HP:0000543	Optic disc pallor	1/1	OMIM:180100
768206	PRCD	HP:0000545	Myopia	-	OMIM:180100
790955	UQCC3	HP:0002490	Increased CSF lactate	1/1	OMIM:616111
790955	UQCC3	HP:0001252	Hypotonia	1/1	OMIM:616111
790955	UQCC3	HP:0001263	Global developmental delay	1/1	OMIM:616111
790955	UQCC3	HP:0008897	Postnatal growth retardation	1/1	OMIM:616111
790955	UQCC3	HP:0001324	Muscle weakness	1/1	OMIM:616111
790955	UQCC3	HP:0000007	Autosomal recessive inheritance	-	OMIM:616111
790955	UQCC3	HP:0002151	Increased circulating lactate concentration	1/1	OMIM:616111
790955	UQCC3	HP:0011924	Decreased activity of mitochondrial complex III	1/1	OMIM:616111
790955	UQCC3	HP:0011968	Feeding difficulties	1/1	OMIM:616111
790955	UQCC3	HP:0002360	Sleep abnormality	1/1	OMIM:616111
790955	UQCC3	HP:0007109	Periventricular cysts	1/1	OMIM:616111
790955	UQCC3	HP:0003623	Neonatal onset	1/1	OMIM:616111
790955	UQCC3	HP:0004900	Severe lactic acidosis	1/1	OMIM:616111
790955	UQCC3	HP:0001943	Hypoglycemia	1/1	OMIM:616111
790955	UQCC3	HP:0003128	Lactic acidosis	1/1	OMIM:616111
790955	UQCC3	HP:0032653	Elevated lactate:pyruvate ratio	1/1	OMIM:616111
790955	UQCC3	HP:0000540	Hypermetropia	1/1	OMIM:616111
791114	PWRN1	HP:0001159	Syndactyly	HP:0040283	OMIM:176270
791114	PWRN1	HP:0007328	Impaired pain sensation	HP:0040282	OMIM:176270
791114	PWRN1	HP:0003745	Sporadic	-	OMIM:176270
791114	PWRN1	HP:0001290	Generalized hypotonia	HP:0040281	OMIM:176270
791114	PWRN1	HP:0001270	Motor delay	HP:0040281	OMIM:176270
791114	PWRN1	HP:0001250	Seizure	31/154	OMIM:176270
791114	PWRN1	HP:0001249	Intellectual disability	12/12	OMIM:176270
791114	PWRN1	HP:0002591	Polyphagia	105/165	OMIM:176270
791114	PWRN1	HP:0001263	Global developmental delay	HP:0040281	OMIM:176270
791114	PWRN1	HP:0001262	Excessive daytime somnolence	8/12	OMIM:176270
791114	PWRN1	HP:0000064	Hypoplastic labia minora	HP:0040282	OMIM:176270
791114	PWRN1	HP:0000060	Clitoral hypoplasia	HP:0040282	OMIM:176270
791114	PWRN1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	OMIM:176270
791114	PWRN1	HP:0000046	Small scrotum	-	OMIM:176270
791114	PWRN1	HP:0000054	Micropenis	HP:0040282	OMIM:176270
791114	PWRN1	HP:0001385	Hip dysplasia	27/90	OMIM:176270
791114	PWRN1	HP:0000028	Cryptorchidism	118/130	OMIM:176270
791114	PWRN1	HP:0008872	Feeding difficulties in infancy	HP:0040281	OMIM:176270
791114	PWRN1	HP:0007513	Generalized hypopigmentation	-	OMIM:176270
791114	PWRN1	HP:0001328	Specific learning disability	HP:0040281	OMIM:176270
791114	PWRN1	HP:0000006	Autosomal dominant inheritance	-	OMIM:176270
791114	PWRN1	HP:0002650	Scoliosis	150/180	OMIM:176270
791114	PWRN1	HP:0001319	Neonatal hypotonia	244/244	OMIM:176270
791114	PWRN1	HP:0002791	Hypoventilation	-	OMIM:176270
791114	PWRN1	HP:0002714	Downturned corners of mouth	HP:0040282	OMIM:176270
791114	PWRN1	HP:0002033	Poor suck	HP:0040281	OMIM:176270
791114	PWRN1	HP:0005968	Temperature instability	HP:0040283	OMIM:176270
791114	PWRN1	HP:0005978	Type II diabetes mellitus	12/82	OMIM:176270
791114	PWRN1	HP:0030919	Low 5-minute APGAR score	14/244	OMIM:176270
791114	PWRN1	HP:0030918	Low 1-minute APGAR score	55/244	OMIM:176270
791114	PWRN1	HP:0009466	Radial deviation of finger	HP:0040283	OMIM:176270
791114	PWRN1	HP:0002155	Hypertriglyceridemia	10/66	OMIM:176270
791114	PWRN1	HP:0002119	Ventriculomegaly	HP:0040282	OMIM:176270
791114	PWRN1	HP:0010535	Sleep apnea	HP:0040282	OMIM:176270
791114	PWRN1	HP:0003577	Congenital onset	98/244	OMIM:176270
791114	PWRN1	HP:0002236	Frontal upsweep of hair	HP:0040283	OMIM:176270
791114	PWRN1	HP:0100716	Self-injurious behavior	50/62	OMIM:176270
791114	PWRN1	HP:0002205	Recurrent respiratory infections	HP:0040282	OMIM:176270
791114	PWRN1	HP:0007010	Poor fine motor coordination	HP:0040283	OMIM:176270
791114	PWRN1	HP:0007015	Poor gross motor coordination	-	OMIM:176270
791114	PWRN1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	OMIM:176270
791114	PWRN1	HP:0002360	Sleep abnormality	HP:0040282	OMIM:176270
791114	PWRN1	HP:0200055	Small hand	-	OMIM:176270
791114	PWRN1	HP:0033454	Tube feeding	216/244	OMIM:176270
791114	PWRN1	HP:0031878	Acromicria	-	OMIM:176270
791114	PWRN1	HP:0004283	Narrow palm	HP:0040281	OMIM:176270
791114	PWRN1	HP:0004279	Short palm	HP:0040281	OMIM:176270
791114	PWRN1	HP:0000670	Carious teeth	HP:0040283	OMIM:176270
791114	PWRN1	HP:0004322	Short stature	HP:0040281	OMIM:176270
791114	PWRN1	HP:0012743	Abdominal obesity	-	OMIM:176270
791114	PWRN1	HP:0000750	Delayed speech and language development	HP:0040281	OMIM:176270
791114	PWRN1	HP:0000717	Autism	210/786	OMIM:176270
791114	PWRN1	HP:0000709	Psychosis	18/92	OMIM:176270
791114	PWRN1	HP:0000708	Atypical behavior	HP:0040282	OMIM:176270
791114	PWRN1	HP:0011461	Fetal onset	146/244	OMIM:176270
791114	PWRN1	HP:0000789	Infertility	HP:0040281	OMIM:176270
791114	PWRN1	HP:0000786	Primary amenorrhea	1/7	OMIM:176270
791114	PWRN1	HP:0003124	Hypercholesterolemia	42/66	OMIM:176270
791114	PWRN1	HP:0003199	Decreased muscle mass	HP:0040282	OMIM:176270
791114	PWRN1	HP:0000876	Oligomenorrhea	HP:0040282	OMIM:176270
791114	PWRN1	HP:0000846	Adrenal insufficiency	1/82	OMIM:176270
791114	PWRN1	HP:0000842	Hyperinsulinemia	-	OMIM:176270
791114	PWRN1	HP:0000826	Precocious puberty	-	OMIM:176270
791114	PWRN1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040281	OMIM:176270
791114	PWRN1	HP:0000823	Delayed puberty	HP:0040282	OMIM:176270
791114	PWRN1	HP:0003233	Decreased HDL cholesterol concentration	23/66	OMIM:176270
791114	PWRN1	HP:0003241	External genital hypoplasia	HP:0040281	OMIM:176270
791114	PWRN1	HP:0000992	Cutaneous photosensitivity	HP:0040282	OMIM:176270
791114	PWRN1	HP:0000969	Edema	9/12	OMIM:176270
791114	PWRN1	HP:0000939	Osteoporosis	2/12	OMIM:176270
791114	PWRN1	HP:0000938	Osteopenia	HP:0040283	OMIM:176270
791114	PWRN1	HP:0000268	Dolichocephaly	-	OMIM:176270
791114	PWRN1	HP:0030084	Clinodactyly	-	OMIM:176270
791114	PWRN1	HP:0002808	Kyphosis	HP:0040282	OMIM:176270
791114	PWRN1	HP:0000219	Thin upper lip vermilion	15/20	OMIM:176270
791114	PWRN1	HP:0001562	Oligohydramnios	16/244	OMIM:176270
791114	PWRN1	HP:0001561	Polyhydramnios	57/244	OMIM:176270
791114	PWRN1	HP:0001558	Decreased fetal movement	146/244	OMIM:176270
791114	PWRN1	HP:0025501	Class III obesity	90/165	OMIM:176270
791114	PWRN1	HP:0001531	Failure to thrive in infancy	HP:0040281	OMIM:176270
791114	PWRN1	HP:0002857	Genu valgum	-	OMIM:176270
791114	PWRN1	HP:0001511	Intrauterine growth retardation	50/244	OMIM:176270
791114	PWRN1	HP:0001513	Obesity	85/180	OMIM:176270
791114	PWRN1	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	OMIM:176270
791114	PWRN1	HP:0001611	Hypernasal speech	HP:0040282	OMIM:176270
791114	PWRN1	HP:0000341	Narrow forehead	HP:0040282	OMIM:176270
791114	PWRN1	HP:0001623	Breech presentation	70/244	OMIM:176270
791114	PWRN1	HP:0000486	Strabismus	-	OMIM:176270
791114	PWRN1	HP:0012450	Chronic constipation	5/12	OMIM:176270
791114	PWRN1	HP:0001773	Short foot	HP:0040281	OMIM:176270
791114	PWRN1	HP:0000446	Narrow nasal bridge	HP:0040282	OMIM:176270
791114	PWRN1	HP:0000582	Upslanted palpebral fissure	HP:0040283	OMIM:176270
791114	PWRN1	HP:0000565	Esotropia	HP:0040283	OMIM:176270
791114	PWRN1	HP:0000540	Hypermetropia	-	OMIM:176270
791114	PWRN1	HP:0000545	Myopia	HP:0040283	OMIM:176270
100033413	SNORD116-1	HP:0001159	Syndactyly	HP:0040283	OMIM:176270
100033413	SNORD116-1	HP:0007328	Impaired pain sensation	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0003745	Sporadic	-	OMIM:176270
100033413	SNORD116-1	HP:0001290	Generalized hypotonia	HP:0040281	OMIM:176270
100033413	SNORD116-1	HP:0001270	Motor delay	HP:0040281	OMIM:176270
100033413	SNORD116-1	HP:0001250	Seizure	31/154	OMIM:176270
100033413	SNORD116-1	HP:0001249	Intellectual disability	12/12	OMIM:176270
100033413	SNORD116-1	HP:0002591	Polyphagia	105/165	OMIM:176270
100033413	SNORD116-1	HP:0001263	Global developmental delay	HP:0040281	OMIM:176270
100033413	SNORD116-1	HP:0001262	Excessive daytime somnolence	8/12	OMIM:176270
100033413	SNORD116-1	HP:0000064	Hypoplastic labia minora	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0000060	Clitoral hypoplasia	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281	OMIM:176270
100033413	SNORD116-1	HP:0000046	Small scrotum	-	OMIM:176270
100033413	SNORD116-1	HP:0000054	Micropenis	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0001385	Hip dysplasia	27/90	OMIM:176270
100033413	SNORD116-1	HP:0000028	Cryptorchidism	118/130	OMIM:176270
100033413	SNORD116-1	HP:0008872	Feeding difficulties in infancy	HP:0040281	OMIM:176270
100033413	SNORD116-1	HP:0007513	Generalized hypopigmentation	-	OMIM:176270
100033413	SNORD116-1	HP:0001328	Specific learning disability	HP:0040281	OMIM:176270
100033413	SNORD116-1	HP:0000006	Autosomal dominant inheritance	-	OMIM:176270
100033413	SNORD116-1	HP:0002650	Scoliosis	150/180	OMIM:176270
100033413	SNORD116-1	HP:0001319	Neonatal hypotonia	244/244	OMIM:176270
100033413	SNORD116-1	HP:0002791	Hypoventilation	-	OMIM:176270
100033413	SNORD116-1	HP:0002714	Downturned corners of mouth	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0002033	Poor suck	HP:0040281	OMIM:176270
100033413	SNORD116-1	HP:0005968	Temperature instability	HP:0040283	OMIM:176270
100033413	SNORD116-1	HP:0005978	Type II diabetes mellitus	12/82	OMIM:176270
100033413	SNORD116-1	HP:0030919	Low 5-minute APGAR score	14/244	OMIM:176270
100033413	SNORD116-1	HP:0030918	Low 1-minute APGAR score	55/244	OMIM:176270
100033413	SNORD116-1	HP:0009466	Radial deviation of finger	HP:0040283	OMIM:176270
100033413	SNORD116-1	HP:0002155	Hypertriglyceridemia	10/66	OMIM:176270
100033413	SNORD116-1	HP:0002119	Ventriculomegaly	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0010535	Sleep apnea	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0003577	Congenital onset	98/244	OMIM:176270
100033413	SNORD116-1	HP:0002236	Frontal upsweep of hair	HP:0040283	OMIM:176270
100033413	SNORD116-1	HP:0100716	Self-injurious behavior	50/62	OMIM:176270
100033413	SNORD116-1	HP:0002205	Recurrent respiratory infections	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0007010	Poor fine motor coordination	HP:0040283	OMIM:176270
100033413	SNORD116-1	HP:0007015	Poor gross motor coordination	-	OMIM:176270
100033413	SNORD116-1	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0002360	Sleep abnormality	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0200055	Small hand	-	OMIM:176270
100033413	SNORD116-1	HP:0033454	Tube feeding	216/244	OMIM:176270
100033413	SNORD116-1	HP:0031878	Acromicria	-	OMIM:176270
100033413	SNORD116-1	HP:0004283	Narrow palm	HP:0040281	OMIM:176270
100033413	SNORD116-1	HP:0004279	Short palm	HP:0040281	OMIM:176270
100033413	SNORD116-1	HP:0000670	Carious teeth	HP:0040283	OMIM:176270
100033413	SNORD116-1	HP:0004322	Short stature	HP:0040281	OMIM:176270
100033413	SNORD116-1	HP:0012743	Abdominal obesity	-	OMIM:176270
100033413	SNORD116-1	HP:0000750	Delayed speech and language development	HP:0040281	OMIM:176270
100033413	SNORD116-1	HP:0000717	Autism	210/786	OMIM:176270
100033413	SNORD116-1	HP:0000709	Psychosis	18/92	OMIM:176270
100033413	SNORD116-1	HP:0000708	Atypical behavior	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0011461	Fetal onset	146/244	OMIM:176270
100033413	SNORD116-1	HP:0000789	Infertility	HP:0040281	OMIM:176270
100033413	SNORD116-1	HP:0000786	Primary amenorrhea	1/7	OMIM:176270
100033413	SNORD116-1	HP:0003124	Hypercholesterolemia	42/66	OMIM:176270
100033413	SNORD116-1	HP:0003199	Decreased muscle mass	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0000876	Oligomenorrhea	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0000846	Adrenal insufficiency	1/82	OMIM:176270
100033413	SNORD116-1	HP:0000842	Hyperinsulinemia	-	OMIM:176270
100033413	SNORD116-1	HP:0000826	Precocious puberty	-	OMIM:176270
100033413	SNORD116-1	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040281	OMIM:176270
100033413	SNORD116-1	HP:0000823	Delayed puberty	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0003233	Decreased HDL cholesterol concentration	23/66	OMIM:176270
100033413	SNORD116-1	HP:0003241	External genital hypoplasia	HP:0040281	OMIM:176270
100033413	SNORD116-1	HP:0000992	Cutaneous photosensitivity	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0000969	Edema	9/12	OMIM:176270
100033413	SNORD116-1	HP:0000939	Osteoporosis	2/12	OMIM:176270
100033413	SNORD116-1	HP:0000938	Osteopenia	HP:0040283	OMIM:176270
100033413	SNORD116-1	HP:0000268	Dolichocephaly	-	OMIM:176270
100033413	SNORD116-1	HP:0030084	Clinodactyly	-	OMIM:176270
100033413	SNORD116-1	HP:0002808	Kyphosis	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0000219	Thin upper lip vermilion	15/20	OMIM:176270
100033413	SNORD116-1	HP:0001562	Oligohydramnios	16/244	OMIM:176270
100033413	SNORD116-1	HP:0001561	Polyhydramnios	57/244	OMIM:176270
100033413	SNORD116-1	HP:0001558	Decreased fetal movement	146/244	OMIM:176270
100033413	SNORD116-1	HP:0025501	Class III obesity	90/165	OMIM:176270
100033413	SNORD116-1	HP:0001531	Failure to thrive in infancy	HP:0040281	OMIM:176270
100033413	SNORD116-1	HP:0002857	Genu valgum	-	OMIM:176270
100033413	SNORD116-1	HP:0001511	Intrauterine growth retardation	50/244	OMIM:176270
100033413	SNORD116-1	HP:0001513	Obesity	85/180	OMIM:176270
100033413	SNORD116-1	HP:0007874	Almond-shaped palpebral fissure	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0001611	Hypernasal speech	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0000341	Narrow forehead	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0001623	Breech presentation	70/244	OMIM:176270
100033413	SNORD116-1	HP:0000486	Strabismus	-	OMIM:176270
100033413	SNORD116-1	HP:0012450	Chronic constipation	5/12	OMIM:176270
100033413	SNORD116-1	HP:0001773	Short foot	HP:0040281	OMIM:176270
100033413	SNORD116-1	HP:0000446	Narrow nasal bridge	HP:0040282	OMIM:176270
100033413	SNORD116-1	HP:0000582	Upslanted palpebral fissure	HP:0040283	OMIM:176270
100033413	SNORD116-1	HP:0000565	Esotropia	HP:0040283	OMIM:176270
100033413	SNORD116-1	HP:0000540	Hypermetropia	-	OMIM:176270
100033413	SNORD116-1	HP:0000545	Myopia	HP:0040283	OMIM:176270
100127206	MINAR2	HP:0000007	Autosomal recessive inheritance	-	OMIM:620238
100127206	MINAR2	HP:0003577	Congenital onset	11/11	OMIM:620238
100127206	MINAR2	HP:0000407	Sensorineural hearing impairment	11/11	OMIM:620238
100128908	CIROP	HP:0012020	Right aortic arch	1/21	OMIM:619702
100128908	CIROP	HP:0000007	Autosomal recessive inheritance	-	OMIM:619702
100128908	CIROP	HP:0003577	Congenital onset	21/21	OMIM:619702
100128908	CIROP	HP:0010773	Partial anomalous pulmonary venous return	1/21	OMIM:619702
100128908	CIROP	HP:0004935	Pulmonary artery atresia	3/21	OMIM:619702
100128908	CIROP	HP:0031854	Left Isomerism	1/21	OMIM:619702
100128908	CIROP	HP:0004383	Hypoplastic left heart	1/21	OMIM:619702
100128908	CIROP	HP:0011540	Congenitally corrected transposition of the great arteries	3/21	OMIM:619702
100128908	CIROP	HP:0011590	Double aortic arch	1/21	OMIM:619702
100128908	CIROP	HP:0011565	Common atrium	2/21	OMIM:619702
100128908	CIROP	HP:0011556	Double inlet right ventricle	1/21	OMIM:619702
100128908	CIROP	HP:0011553	Discordant atrioventricular connection	2/21	OMIM:619702
100128908	CIROP	HP:0011640	Single coronary artery origin	1/21	OMIM:619702
100128908	CIROP	HP:0011670	Left superior vena cava draining to coronary sinus	3/42	OMIM:619702
100128908	CIROP	HP:0031348	Dextrotransposition of the great arteries	1/21	OMIM:619702
100128908	CIROP	HP:0001696	Situs inversus totalis	8/21	OMIM:619702
100128908	CIROP	HP:0001674	Complete atrioventricular canal defect	7/21	OMIM:619702
100128908	CIROP	HP:0001680	Coarctation of aorta	1/21	OMIM:619702
100128908	CIROP	HP:0001651	Dextrocardia	6/21	OMIM:619702
100128908	CIROP	HP:0012304	Hypoplastic aortic arch	2/21	OMIM:619702
100128908	CIROP	HP:0001643	Patent ductus arteriosus	5/21	OMIM:619702
100128908	CIROP	HP:0001642	Pulmonic stenosis	4/21	OMIM:619702
100128908	CIROP	HP:0001655	Patent foramen ovale	2/21	OMIM:619702
100128908	CIROP	HP:0001629	Ventricular septal defect	3/21	OMIM:619702
100128908	CIROP	HP:0001631	Atrial septal defect	5/21	OMIM:619702
100128908	CIROP	HP:0001719	Double outlet right ventricle	7/21	OMIM:619702
100128908	CIROP	HP:0031565	Abdominal situs ambiguus	5/21	OMIM:619702
100128908	CIROP	HP:0001750	Single ventricle	4/21	OMIM:619702
100128927	ZBTB42	HP:0010963	Absence of stomach bubble on fetal sonography	3/3	OMIM:616248
100128927	ZBTB42	HP:0000007	Autosomal recessive inheritance	-	OMIM:616248
100128927	ZBTB42	HP:0030674	Antenatal onset	3/3	OMIM:616248
100128927	ZBTB42	HP:0000256	Macrocephaly	1/3	OMIM:616248
100128927	ZBTB42	HP:0002803	Congenital contracture	3/3	OMIM:616248
100128927	ZBTB42	HP:0002804	Arthrogryposis multiplex congenita	3/3	OMIM:616248
100128927	ZBTB42	HP:0001561	Polyhydramnios	3/3	OMIM:616248
100128927	ZBTB42	HP:0001558	Decreased fetal movement	3/3	OMIM:616248
100131801	PET100	HP:0002490	Increased CSF lactate	10/10	OMIM:619055
100131801	PET100	HP:0002421	Poor head control	2/10	OMIM:619055
100131801	PET100	HP:0001290	Generalized hypotonia	5/10	OMIM:619055
100131801	PET100	HP:0001283	Bulbar palsy	1/10	OMIM:619055
100131801	PET100	HP:0001250	Seizure	9/11	OMIM:619055
100131801	PET100	HP:0002510	Spastic tetraplegia	1/10	OMIM:619055
100131801	PET100	HP:0003819	Death in childhood	1/10	OMIM:619055
100131801	PET100	HP:0003811	Neonatal death	1/1	OMIM:619055
100131801	PET100	HP:0000007	Autosomal recessive inheritance	-	OMIM:619055
100131801	PET100	HP:0001336	Myoclonus	2/10	OMIM:619055
100131801	PET100	HP:0002650	Scoliosis	2/10	OMIM:619055
100131801	PET100	HP:0025405	Visual fixation instability	-	OMIM:619055
100131801	PET100	HP:0003355	Aminoaciduria	1/1	OMIM:619055
100131801	PET100	HP:0008151	Prolonged prothrombin time	1/1	OMIM:619055
100131801	PET100	HP:0002151	Increased circulating lactate concentration	11/11	OMIM:619055
100131801	PET100	HP:0002133	Status epilepticus	2/10	OMIM:619055
100131801	PET100	HP:0002169	Clonus	1/10	OMIM:619055
100131801	PET100	HP:0010544	Vertical nystagmus	1/10	OMIM:619055
100131801	PET100	HP:0003593	Infantile onset	10/10	OMIM:619055
100131801	PET100	HP:0100704	Cerebral visual impairment	1/10	OMIM:619055
100131801	PET100	HP:0008347	Decreased activity of mitochondrial complex IV	10/10	OMIM:619055
100131801	PET100	HP:0011968	Feeding difficulties	-	OMIM:619055
100131801	PET100	HP:0001943	Hypoglycemia	1/1	OMIM:619055
100131801	PET100	HP:0001942	Metabolic acidosis	1/1	OMIM:619055
100131801	PET100	HP:0001998	Neonatal hypoglycemia	1/10	OMIM:619055
100131801	PET100	HP:0000666	Horizontal nystagmus	1/10	OMIM:619055
100131801	PET100	HP:0003073	Hypoalbuminemia	1/1	OMIM:619055
100131801	PET100	HP:0011421	Death in adolescence	1/10	OMIM:619055
100131801	PET100	HP:0030746	Intraventricular hemorrhage	1/1	OMIM:619055
100131801	PET100	HP:0003128	Lactic acidosis	1/1	OMIM:619055
100131801	PET100	HP:0003236	Elevated circulating creatine kinase concentration	1/1	OMIM:619055
100131801	PET100	HP:0000252	Microcephaly	1/10	OMIM:619055
100131801	PET100	HP:0001522	Death in infancy	4/10	OMIM:619055
100131801	PET100	HP:0001508	Failure to thrive	-	OMIM:619055
100131801	PET100	HP:0001518	Small for gestational age	1/1	OMIM:619055
100131801	PET100	HP:0001511	Intrauterine growth retardation	1/1	OMIM:619055
100134444	KCNJ18	HP:0002486	Myotonia	-	ORPHA:79102
100134444	KCNJ18	HP:0003768	Periodic paralysis	8/8	OMIM:613239
100134444	KCNJ18	HP:0002445	Tetraplegia	HP:0040281	ORPHA:79102
100134444	KCNJ18	HP:0003752	Episodic flaccid weakness	HP:0040281	ORPHA:79102
100134444	KCNJ18	HP:0001284	Areflexia	3/7	OMIM:613239
100134444	KCNJ18	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:79102
100134444	KCNJ18	HP:0001265	Hyporeflexia	3/7	OMIM:613239
100134444	KCNJ18	HP:0007340	Lower limb muscle weakness	HP:0040281	ORPHA:79102
100134444	KCNJ18	HP:0031098	Decreased thyroid-stimulating hormone level	6/6	OMIM:613239
100134444	KCNJ18	HP:0000016	Urinary retention	HP:0040282	ORPHA:79102
100134444	KCNJ18	HP:0001347	Hyperreflexia	1/7	OMIM:613239
100134444	KCNJ18	HP:0001337	Tremor	HP:0040282	ORPHA:79102
100134444	KCNJ18	HP:0001337	Tremor	7/8	OMIM:613239
100134444	KCNJ18	HP:0000006	Autosomal dominant inheritance	-	OMIM:613239
100134444	KCNJ18	HP:0002019	Constipation	HP:0040282	ORPHA:79102
100134444	KCNJ18	HP:0003394	Muscle spasm	HP:0040282	ORPHA:79102
100134444	KCNJ18	HP:0011706	Second degree atrioventricular block	HP:0040283	ORPHA:79102
100134444	KCNJ18	HP:0008180	Mildly elevated creatine kinase	HP:0040281	ORPHA:79102
100134444	KCNJ18	HP:0008153	Periodic hypokalemic paresis	HP:0040280	ORPHA:79102
100134444	KCNJ18	HP:0011784	Thyrotoxicosis with diffuse goiter	HP:0040281	ORPHA:79102
100134444	KCNJ18	HP:0011785	Thyrotoxicosis with toxic multinodular goiter	HP:0040281	ORPHA:79102
100134444	KCNJ18	HP:0011786	Thyrotoxicosis with toxic single thyroid nodule	HP:0040281	ORPHA:79102
100134444	KCNJ18	HP:0003470	Paralysis	HP:0040281	ORPHA:79102
100134444	KCNJ18	HP:0002153	Hyperkalemia	HP:0040284	ORPHA:79102
100134444	KCNJ18	HP:0003457	EMG abnormality	HP:0040281	ORPHA:79102
100134444	KCNJ18	HP:0008285	Transient hypophosphatemia	HP:0040281	ORPHA:79102
100134444	KCNJ18	HP:0003596	Middle age onset	1/8	OMIM:613239
100134444	KCNJ18	HP:0003552	Muscle stiffness	HP:0040282	ORPHA:79102
100134444	KCNJ18	HP:0002203	Respiratory paralysis	HP:0040284	ORPHA:79102
100134444	KCNJ18	HP:0011998	Postprandial hyperglycemia	HP:0040282	ORPHA:79102
100134444	KCNJ18	HP:0003694	Late-onset proximal muscle weakness	HP:0040283	ORPHA:79102
100134444	KCNJ18	HP:0100647	Graves disease	HP:0040281	ORPHA:79102
100134444	KCNJ18	HP:0001962	Palpitations	HP:0040281	ORPHA:79102
100134444	KCNJ18	HP:0009020	Exercise-induced muscle fatigue	HP:0040282	ORPHA:79102
100134444	KCNJ18	HP:0004303	Abnormal muscle fiber morphology	HP:0040281	ORPHA:79102
100134444	KCNJ18	HP:0012726	Episodic hypokalemia	HP:0040280	ORPHA:79102
100134444	KCNJ18	HP:0011462	Young adult onset	7/8	OMIM:613239
100134444	KCNJ18	HP:0003134	Abnormality of peripheral nerve conduction	-	ORPHA:79102
100134444	KCNJ18	HP:0000853	Goiter	6/8	OMIM:613239
100134444	KCNJ18	HP:0000836	Hyperthyroidism	-	OMIM:613239
100134444	KCNJ18	HP:0000836	Hyperthyroidism	HP:0040280	ORPHA:79102
100134444	KCNJ18	HP:0003201	Rhabdomyolysis	HP:0040282	ORPHA:79102
100134444	KCNJ18	HP:0033077	Increased circulating free T4 concentration	6/7	OMIM:613239
100134444	KCNJ18	HP:0000975	Hyperhidrosis	HP:0040281	ORPHA:79102
100134444	KCNJ18	HP:0012240	Increased intramyocellular lipid droplets	HP:0040281	ORPHA:79102
100134444	KCNJ18	HP:0001513	Obesity	HP:0040281	ORPHA:79102
100134444	KCNJ18	HP:0031506	Increased circulating T4 concentration	2/2	OMIM:613239
100134444	KCNJ18	HP:0012364	Decreased urinary potassium	HP:0040281	ORPHA:79102
100134444	KCNJ18	HP:0002917	Hypomagnesemia	HP:0040281	ORPHA:79102
100134444	KCNJ18	HP:0002900	Hypokalemia	8/8	OMIM:613239
100134444	KCNJ18	HP:0005165	Shortened PR interval	HP:0040283	ORPHA:79102
100134444	KCNJ18	HP:0001649	Tachycardia	7/8	OMIM:613239
100134444	KCNJ18	HP:0001663	Ventricular fibrillation	HP:0040283	ORPHA:79102
100134444	KCNJ18	HP:0001657	Prolonged QT interval	HP:0040283	ORPHA:79102
100134444	KCNJ18	HP:0006670	Impaired myocardial contractility	-	ORPHA:79102
100134444	KCNJ18	HP:0001824	Weight loss	HP:0040282	ORPHA:79102
100134444	KCNJ18	HP:0001824	Weight loss	8/8	OMIM:613239
100134444	KCNJ18	HP:0000597	Ophthalmoparesis	HP:0040284	ORPHA:79102
100144748	KLLN	HP:0001156	Brachydactyly	HP:0040283	ORPHA:201
100144748	KLLN	HP:0001250	Seizure	HP:0040283	ORPHA:201
100144748	KLLN	HP:0001251	Ataxia	HP:0040282	ORPHA:201
100144748	KLLN	HP:0001249	Intellectual disability	HP:0040282	ORPHA:201
100144748	KLLN	HP:0001263	Global developmental delay	HP:0040282	ORPHA:201
100144748	KLLN	HP:0008675	Enlarged polycystic ovaries	HP:0040283	ORPHA:201
100144748	KLLN	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:201
100144748	KLLN	HP:0012062	Bone cyst	HP:0040283	ORPHA:201
100144748	KLLN	HP:0000077	Abnormality of the kidney	HP:0040283	ORPHA:201
100144748	KLLN	HP:0012032	Lipoma	HP:0040282	ORPHA:201
100144748	KLLN	HP:0000036	Abnormal penis morphology	HP:0040282	ORPHA:201
100144748	KLLN	HP:0007565	Multiple cafe-au-lait spots	HP:0040283	ORPHA:201
100144748	KLLN	HP:0002664	Neoplasm	HP:0040282	ORPHA:201
100144748	KLLN	HP:0002650	Scoliosis	HP:0040283	ORPHA:201
100144748	KLLN	HP:0001317	Abnormal cerebellum morphology	HP:0040283	ORPHA:201
100144748	KLLN	HP:0000158	Macroglossia	HP:0040282	ORPHA:201
100144748	KLLN	HP:0001482	Subcutaneous nodule	HP:0040282	ORPHA:201
100144748	KLLN	HP:0012114	Endometrial carcinoma	HP:0040283	ORPHA:201
100144748	KLLN	HP:0500009	Dysplastic gangliocytoma of the cerebellum	-	OMIM:615107
100144748	KLLN	HP:0000130	Abnormality of the uterus	HP:0040283	ORPHA:201
100144748	KLLN	HP:0100543	Cognitive impairment	HP:0040282	ORPHA:201
100144748	KLLN	HP:0100579	Mucosal telangiectasiae	HP:0040282	ORPHA:201
100144748	KLLN	HP:0010566	Hamartoma	-	OMIM:615107
100144748	KLLN	HP:0100780	Conjunctival hamartoma	HP:0040281	ORPHA:201
100144748	KLLN	HP:0009720	Adenoma sebaceum	HP:0040282	ORPHA:201
100144748	KLLN	HP:0009726	Renal neoplasm	-	OMIM:615107
100144748	KLLN	HP:0010614	Fibroma	HP:0040282	ORPHA:201
100144748	KLLN	HP:0001053	Hypopigmented skin patches	HP:0040283	ORPHA:201
100144748	KLLN	HP:0001048	Cavernous hemangioma	HP:0040282	ORPHA:201
100144748	KLLN	HP:0200034	Papule	HP:0040281	ORPHA:201
100144748	KLLN	HP:0200063	Colorectal polyposis	HP:0040281	ORPHA:201
100144748	KLLN	HP:0005595	Generalized hyperkeratosis	HP:0040281	ORPHA:201
100144748	KLLN	HP:0005584	Renal cell carcinoma	HP:0040283	ORPHA:201
100144748	KLLN	HP:0004322	Short stature	HP:0040283	ORPHA:201
100144748	KLLN	HP:0003002	Breast carcinoma	HP:0040281	ORPHA:201
100144748	KLLN	HP:0003002	Breast carcinoma	-	OMIM:615107
100144748	KLLN	HP:0004390	Hamartomatous polyposis	HP:0040282	ORPHA:201
100144748	KLLN	HP:0100006	Neoplasm of the central nervous system	HP:0040283	ORPHA:201
100144748	KLLN	HP:0000771	Gynecomastia	HP:0040283	ORPHA:201
100144748	KLLN	HP:0012733	Macule	HP:0040281	ORPHA:201
100144748	KLLN	HP:0012740	Papilloma	HP:0040281	ORPHA:201
100144748	KLLN	HP:0000767	Pectus excavatum	HP:0040283	ORPHA:201
100144748	KLLN	HP:0100031	Neoplasm of the thyroid gland	HP:0040283	ORPHA:201
100144748	KLLN	HP:0000717	Autism	HP:0040283	ORPHA:201
100144748	KLLN	HP:0012844	Trichilemmoma	-	OMIM:615107
100144748	KLLN	HP:0000853	Goiter	HP:0040281	ORPHA:201
100144748	KLLN	HP:0000820	Abnormality of the thyroid gland	HP:0040282	ORPHA:201
100144748	KLLN	HP:0000995	Melanocytic nevus	HP:0040282	ORPHA:201
100144748	KLLN	HP:0000982	Palmoplantar keratoderma	HP:0040281	ORPHA:201
100144748	KLLN	HP:0008069	Neoplasm of the skin	HP:0040281	ORPHA:201
100144748	KLLN	HP:0000256	Macrocephaly	HP:0040282	ORPHA:201
100144748	KLLN	HP:0000256	Macrocephaly	-	OMIM:615107
100144748	KLLN	HP:0002808	Kyphosis	HP:0040283	ORPHA:201
100144748	KLLN	HP:0000221	Furrowed tongue	HP:0040282	ORPHA:201
100144748	KLLN	HP:0000218	High palate	HP:0040283	ORPHA:201
100144748	KLLN	HP:0002861	Melanoma	HP:0040283	ORPHA:201
100144748	KLLN	HP:0002858	Meningioma	HP:0040282	ORPHA:201
100144748	KLLN	HP:0001508	Failure to thrive	HP:0040283	ORPHA:201
100144748	KLLN	HP:0000365	Hearing impairment	HP:0040283	ORPHA:201
100144748	KLLN	HP:0005374	Cellular immunodeficiency	HP:0040283	ORPHA:201
100144748	KLLN	HP:0006731	Follicular thyroid carcinoma	HP:0040283	ORPHA:201
100144748	KLLN	HP:0000518	Cataract	HP:0040283	ORPHA:201
100144748	KLLN	HP:0000545	Myopia	HP:0040283	ORPHA:201
100147744	RNU7-1	HP:0003774	Stage 5 chronic kidney disease	3/16	OMIM:619487
100147744	RNU7-1	HP:0032263	Increased blood pressure	1/16	OMIM:619487
100147744	RNU7-1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0002415	Leukodystrophy	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0001276	Hypertonia	HP:0040281	ORPHA:51
100147744	RNU7-1	HP:0001276	Hypertonia	2/16	OMIM:619487
100147744	RNU7-1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0001285	Spastic tetraparesis	2/16	OMIM:619487
100147744	RNU7-1	HP:0001250	Seizure	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0001250	Seizure	3/16	OMIM:619487
100147744	RNU7-1	HP:0001264	Spastic diplegia	2/16	OMIM:619487
100147744	RNU7-1	HP:0001263	Global developmental delay	HP:0040281	ORPHA:51
100147744	RNU7-1	HP:0001263	Global developmental delay	16/16	OMIM:619487
100147744	RNU7-1	HP:0001257	Spasticity	4/16	OMIM:619487
100147744	RNU7-1	HP:0001257	Spasticity	HP:0040281	ORPHA:51
100147744	RNU7-1	HP:0002514	Cerebral calcification	5/16	OMIM:619487
100147744	RNU7-1	HP:0002514	Cerebral calcification	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0002510	Spastic tetraplegia	2/16	OMIM:619487
100147744	RNU7-1	HP:0002510	Spastic tetraplegia	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0000083	Renal insufficiency	1/16	OMIM:619487
100147744	RNU7-1	HP:0000096	Glomerular sclerosis	1/16	OMIM:619487
100147744	RNU7-1	HP:0000093	Proteinuria	2/16	OMIM:619487
100147744	RNU7-1	HP:0001397	Hepatic steatosis	2/16	OMIM:619487
100147744	RNU7-1	HP:0001395	Hepatic fibrosis	1/16	OMIM:619487
100147744	RNU7-1	HP:0001369	Arthritis	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0000054	Micropenis	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0000054	Micropenis	1/16	OMIM:619487
100147744	RNU7-1	HP:0001357	Plagiocephaly	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0001332	Dystonia	7/16	OMIM:619487
100147744	RNU7-1	HP:0001332	Dystonia	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0000010	Recurrent urinary tract infections	2/16	OMIM:619487
100147744	RNU7-1	HP:0001344	Absent speech	1/16	OMIM:619487
100147744	RNU7-1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619487
100147744	RNU7-1	HP:0001337	Tremor	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0002650	Scoliosis	1/16	OMIM:619487
100147744	RNU7-1	HP:0002650	Scoliosis	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0008936	Axial hypotonia	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0008936	Axial hypotonia	1/16	OMIM:619487
100147744	RNU7-1	HP:0001433	Hepatosplenomegaly	1/16	OMIM:619487
100147744	RNU7-1	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0001409	Portal hypertension	1/16	OMIM:619487
100147744	RNU7-1	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0002071	Abnormality of extrapyramidal motor function	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0002059	Cerebral atrophy	3/16	OMIM:619487
100147744	RNU7-1	HP:0100578	Lipoatrophy	HP:0040284	ORPHA:51
100147744	RNU7-1	HP:0002139	Arrhinencephaly	HP:0040281	ORPHA:51
100147744	RNU7-1	HP:0002119	Ventriculomegaly	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0002135	Basal ganglia calcification	2/16	OMIM:619487
100147744	RNU7-1	HP:0002132	Porencephalic cyst	HP:0040281	ORPHA:51
100147744	RNU7-1	HP:0002188	Delayed CNS myelination	2/16	OMIM:619487
100147744	RNU7-1	HP:0002187	Intellectual disability, profound	HP:0040281	ORPHA:51
100147744	RNU7-1	HP:0011834	Moyamoya phenomenon	HP:0040284	ORPHA:51
100147744	RNU7-1	HP:0004719	Hyperechogenic kidneys	1/16	OMIM:619487
100147744	RNU7-1	HP:0004722	Thickened glomerular basement membrane	1/16	OMIM:619487
100147744	RNU7-1	HP:0002240	Hepatomegaly	1/16	OMIM:619487
100147744	RNU7-1	HP:0003552	Muscle stiffness	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0009709	Increased CSF interferon alpha	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0009710	Chilblains	2/16	OMIM:619487
100147744	RNU7-1	HP:0009710	Chilblains	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0009704	Chronic CSF lymphocytosis	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0011968	Feeding difficulties	4/16	OMIM:619487
100147744	RNU7-1	HP:0004809	Neonatal alloimmune thrombocytopenia	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0007076	Extrapyramidal muscular rigidity	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0007052	Multifocal cerebral white matter abnormalities	HP:0040281	ORPHA:51
100147744	RNU7-1	HP:0001063	Acrocyanosis	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0002360	Sleep abnormality	1/16	OMIM:619487
100147744	RNU7-1	HP:0001029	Poikiloderma	1/16	OMIM:619487
100147744	RNU7-1	HP:0002376	Developmental regression	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0002371	Loss of speech	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0002315	Headache	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0002313	Spastic paraparesis	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0009830	Peripheral neuropathy	1/16	OMIM:619487
100147744	RNU7-1	HP:0100614	Myositis	HP:0040284	ORPHA:51
100147744	RNU7-1	HP:0001087	Developmental glaucoma	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0007108	Demyelinating peripheral neuropathy	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0004963	Calcification of the aorta	HP:0040284	ORPHA:51
100147744	RNU7-1	HP:0004942	Aortic aneurysm	HP:0040284	ORPHA:51
100147744	RNU7-1	HP:0005550	Chronic lymphatic leukemia	HP:0040284	ORPHA:51
100147744	RNU7-1	HP:0006895	Lower limb hypertonia	1/16	OMIM:619487
100147744	RNU7-1	HP:0000639	Nystagmus	1/16	OMIM:619487
100147744	RNU7-1	HP:0000639	Nystagmus	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0000648	Optic atrophy	1/16	OMIM:619487
100147744	RNU7-1	HP:0001955	Unexplained fevers	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0000625	Eyelid coloboma	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0001903	Anemia	4/16	OMIM:619487
100147744	RNU7-1	HP:0004322	Short stature	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0006994	Diffuse leukoencephalopathy	1/16	OMIM:619487
100147744	RNU7-1	HP:0006956	Lateral ventricle dilatation	1/16	OMIM:619487
100147744	RNU7-1	HP:0003073	Hypoalbuminemia	2/16	OMIM:619487
100147744	RNU7-1	HP:0004374	Hemiplegia/hemiparesis	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0000763	Sensory neuropathy	2/16	OMIM:619487
100147744	RNU7-1	HP:0000737	Irritability	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0000737	Irritability	7/16	OMIM:619487
100147744	RNU7-1	HP:0000750	Delayed speech and language development	1/16	OMIM:619487
100147744	RNU7-1	HP:0000742	Self-mutilation	1/16	OMIM:619487
100147744	RNU7-1	HP:0000819	Diabetes mellitus	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0000822	Hypertension	5/16	OMIM:619487
100147744	RNU7-1	HP:0000821	Hypothyroidism	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0000821	Hypothyroidism	5/16	OMIM:619487
100147744	RNU7-1	HP:0030880	Raynaud phenomenon	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0000958	Dry skin	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0000958	Dry skin	2/16	OMIM:619487
100147744	RNU7-1	HP:0000969	Edema	1/16	OMIM:619487
100147744	RNU7-1	HP:0000965	Cutis marmorata	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0000939	Osteoporosis	2/16	OMIM:619487
100147744	RNU7-1	HP:0040140	Degeneration of the striatum	HP:0040284	ORPHA:51
100147744	RNU7-1	HP:0002828	Multiple joint contractures	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0000252	Microcephaly	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0000252	Microcephaly	3/16	OMIM:619487
100147744	RNU7-1	HP:0001541	Ascites	1/16	OMIM:619487
100147744	RNU7-1	HP:0030038	Enchondroma	HP:0040284	ORPHA:51
100147744	RNU7-1	HP:0001508	Failure to thrive	1/16	OMIM:619487
100147744	RNU7-1	HP:0001511	Intrauterine growth retardation	1/16	OMIM:619487
100147744	RNU7-1	HP:0006579	Prolonged neonatal jaundice	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0001609	Hoarse voice	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0002910	Elevated circulating hepatic transaminase concentration	4/16	OMIM:619487
100147744	RNU7-1	HP:0001698	Pericardial effusion	3/16	OMIM:619487
100147744	RNU7-1	HP:0000369	Low-set ears	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0002960	Autoimmunity	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0001640	Cardiomegaly	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284	ORPHA:51
100147744	RNU7-1	HP:0012490	Panniculitis	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0001735	Acute pancreatitis	1/16	OMIM:619487
100147744	RNU7-1	HP:0001701	Pericarditis	1/16	OMIM:619487
100147744	RNU7-1	HP:0001712	Left ventricular hypertrophy	1/16	OMIM:619487
100147744	RNU7-1	HP:0000496	Abnormality of eye movement	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0012444	Brain atrophy	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0000444	Convex nasal ridge	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0001824	Weight loss	1/16	OMIM:619487
100147744	RNU7-1	HP:0000508	Ptosis	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0000501	Glaucoma	HP:0040283	ORPHA:51
100147744	RNU7-1	HP:0030356	Increased circulating interferon-gamma concentration	HP:0040282	ORPHA:51
100147744	RNU7-1	HP:0000533	Chorioretinal atrophy	1/16	OMIM:619487
100147744	RNU7-1	HP:0001878	Hemolytic anemia	1/16	OMIM:619487
100151683	RNU4ATAC	HP:0001176	Large hands	-	OMIM:210710
100151683	RNU4ATAC	HP:0001176	Large hands	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0001156	Brachydactyly	HP:0040283	ORPHA:1824
100151683	RNU4ATAC	HP:0001156	Brachydactyly	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0001156	Brachydactyly	3/5	OMIM:226960
100151683	RNU4ATAC	HP:0001156	Brachydactyly	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0001156	Brachydactyly	-	OMIM:616651
100151683	RNU4ATAC	HP:0001156	Brachydactyly	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0001167	Abnormal finger morphology	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0010935	Abnormality of the upper urinary tract	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0410170	Hippocampal atrophy	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0009912	Abnormal tragus morphology	HP:0040282	ORPHA:2636
100151683	RNU4ATAC	HP:0008551	Microtia	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0003758	Reduced subcutaneous adipose tissue	-	OMIM:131300
100151683	RNU4ATAC	HP:0001293	Cranial nerve compression	-	OMIM:131300
100151683	RNU4ATAC	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0001290	Generalized hypotonia	-	OMIM:616651
100151683	RNU4ATAC	HP:0001276	Hypertonia	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0001274	Agenesis of corpus callosum	6/10	OMIM:210710
100151683	RNU4ATAC	HP:0001256	Intellectual disability, mild	3/3	OMIM:226960
100151683	RNU4ATAC	HP:0001256	Intellectual disability, mild	-	OMIM:616651
100151683	RNU4ATAC	HP:0001250	Seizure	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0001250	Seizure	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0001252	Hypotonia	2/7	OMIM:615777
100151683	RNU4ATAC	HP:0001252	Hypotonia	5/6	OMIM:616651
100151683	RNU4ATAC	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1824
100151683	RNU4ATAC	HP:0001249	Intellectual disability	-	OMIM:210710
100151683	RNU4ATAC	HP:0001249	Intellectual disability	5/7	OMIM:615777
100151683	RNU4ATAC	HP:0001249	Intellectual disability	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0001263	Global developmental delay	1/2	OMIM:226960
100151683	RNU4ATAC	HP:0001263	Global developmental delay	-	OMIM:615777
100151683	RNU4ATAC	HP:0001263	Global developmental delay	5/6	OMIM:616651
100151683	RNU4ATAC	HP:0001263	Global developmental delay	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0001257	Spasticity	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	HP:0040283	ORPHA:1824
100151683	RNU4ATAC	HP:0007333	Hypoplasia of the frontal lobes	-	OMIM:210710
100151683	RNU4ATAC	HP:0002536	Abnormal cortical gyration	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0003865	Bowed humerus	-	OMIM:210710
100151683	RNU4ATAC	HP:0002515	Waddling gait	54/102	OMIM:131300
100151683	RNU4ATAC	HP:0003826	Stillbirth	-	OMIM:210710
100151683	RNU4ATAC	HP:0032327	Interhemispheric cyst	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0003819	Death in childhood	2/10	OMIM:210710
100151683	RNU4ATAC	HP:0008804	Broad femoral head	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0000089	Renal hypoplasia	-	OMIM:210710
100151683	RNU4ATAC	HP:0000077	Abnormality of the kidney	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0000079	Abnormality of the urinary system	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0000072	Hydroureter	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0000044	Hypogonadotropic hypogonadism	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0001377	Limited elbow extension	1/2	OMIM:226960
100151683	RNU4ATAC	HP:0001371	Flexion contracture	-	OMIM:210710
100151683	RNU4ATAC	HP:0000054	Micropenis	-	OMIM:210710
100151683	RNU4ATAC	HP:0001387	Joint stiffness	HP:0040283	ORPHA:1824
100151683	RNU4ATAC	HP:0001382	Joint hypermobility	-	OMIM:615777
100151683	RNU4ATAC	HP:0002694	Sclerosis of skull base	-	OMIM:131300
100151683	RNU4ATAC	HP:0000028	Cryptorchidism	11/20	OMIM:210710
100151683	RNU4ATAC	HP:0000028	Cryptorchidism	HP:0040282	ORPHA:2636
100151683	RNU4ATAC	HP:0008897	Postnatal growth retardation	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0008897	Postnatal growth retardation	-	OMIM:615777
100151683	RNU4ATAC	HP:0008897	Postnatal growth retardation	6/6	OMIM:616651
100151683	RNU4ATAC	HP:0008850	Severe postnatal growth retardation	-	OMIM:210710
100151683	RNU4ATAC	HP:0008828	Delayed proximal femoral epiphyseal ossification	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0012095	Multiple joint dislocation	1/2	OMIM:226960
100151683	RNU4ATAC	HP:0008818	Large iliac wing	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0002663	Delayed epiphyseal ossification	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0001328	Specific learning disability	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0002656	Epiphyseal dysplasia	7/7	OMIM:615777
100151683	RNU4ATAC	HP:0002656	Epiphyseal dysplasia	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0002656	Epiphyseal dysplasia	HP:0040281	ORPHA:1824
100151683	RNU4ATAC	HP:0001324	Muscle weakness	40/96	OMIM:131300
100151683	RNU4ATAC	HP:0002654	Multiple epiphyseal dysplasia	3/3	OMIM:226960
100151683	RNU4ATAC	HP:0002655	Spondyloepiphyseal dysplasia	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0002655	Spondyloepiphyseal dysplasia	-	OMIM:616651
100151683	RNU4ATAC	HP:0002673	Coxa valga	HP:0040283	OMIM:615777
100151683	RNU4ATAC	HP:0001338	Partial agenesis of the corpus callosum	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0000007	Autosomal recessive inheritance	-	OMIM:615777
100151683	RNU4ATAC	HP:0000007	Autosomal recessive inheritance	-	OMIM:226960
100151683	RNU4ATAC	HP:0000007	Autosomal recessive inheritance	-	OMIM:210710
100151683	RNU4ATAC	HP:0000007	Autosomal recessive inheritance	-	OMIM:616651
100151683	RNU4ATAC	HP:0000006	Autosomal dominant inheritance	-	OMIM:131300
100151683	RNU4ATAC	HP:0001302	Pachygyria	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0001320	Cerebellar vermis hypoplasia	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0002650	Scoliosis	12/14	OMIM:131300
100151683	RNU4ATAC	HP:0002643	Neonatal respiratory distress	4/7	OMIM:615777
100151683	RNU4ATAC	HP:0032458	Narrowing of medullary canal	-	OMIM:131300
100151683	RNU4ATAC	HP:6000816	Prominent lesser trochanter	1/1	OMIM:615777
100151683	RNU4ATAC	HP:0000193	Bifid uvula	HP:0040284	OMIM:615777
100151683	RNU4ATAC	HP:0000193	Bifid uvula	HP:0040282	ORPHA:2636
100151683	RNU4ATAC	HP:0000176	Submucous cleft hard palate	HP:0040282	ORPHA:2636
100151683	RNU4ATAC	HP:0000175	Cleft palate	2/7	OMIM:615777
100151683	RNU4ATAC	HP:0000175	Cleft palate	HP:0040282	ORPHA:2636
100151683	RNU4ATAC	HP:0007598	Bilateral single transverse palmar creases	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0007598	Bilateral single transverse palmar creases	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0000113	Polycystic kidney dysplasia	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0000126	Hydronephrosis	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0000107	Renal cyst	-	OMIM:210710
100151683	RNU4ATAC	HP:0001433	Hepatosplenomegaly	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:1824
100151683	RNU4ATAC	HP:0002750	Delayed skeletal maturation	-	OMIM:210710
100151683	RNU4ATAC	HP:0002750	Delayed skeletal maturation	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0002748	Rickets	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0002749	Osteomalacia	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0002716	Lymphadenopathy	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0002716	Lymphadenopathy	-	OMIM:616651
100151683	RNU4ATAC	HP:0002714	Downturned corners of mouth	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0002714	Downturned corners of mouth	-	OMIM:616651
100151683	RNU4ATAC	HP:0002020	Gastroesophageal reflux	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0003312	Abnormal form of the vertebral bodies	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0004616	Cleft vertebral arch	-	OMIM:210710
100151683	RNU4ATAC	HP:0003301	Irregular vertebral endplates	-	OMIM:616651
100151683	RNU4ATAC	HP:0004625	Biconvex vertebral bodies	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0004625	Biconvex vertebral bodies	-	OMIM:616651
100151683	RNU4ATAC	HP:0100530	Abnormal circulating calcium-phosphate regulating hormone concentration	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0002094	Dyspnea	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0002093	Respiratory insufficiency	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0002091	Restrictive ventilatory defect	1/3	OMIM:226960
100151683	RNU4ATAC	HP:0002063	Rigidity	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0002079	Hypoplasia of the corpus callosum	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0002079	Hypoplasia of the corpus callosum	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0003388	Easy fatigability	36/76	OMIM:131300
100151683	RNU4ATAC	HP:0010443	Bifid femur	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0033102	Monkey wrench femoral neck	5/7	OMIM:615777
100151683	RNU4ATAC	HP:0100569	Abnormally ossified vertebrae	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0005930	Abnormal epiphysis morphology	HP:0040281	ORPHA:1824
100151683	RNU4ATAC	HP:0005916	Abnormal metacarpal morphology	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0002121	Generalized non-motor (absence) seizure	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0002133	Status epilepticus	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0002133	Status epilepticus	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0002126	Polymicrogyria	4/10	OMIM:210710
100151683	RNU4ATAC	HP:0011927	Short digit	6/6	OMIM:616651
100151683	RNU4ATAC	HP:0009616	Bifid first metacarpal	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0003498	Disproportionate short stature	-	OMIM:210710
100151683	RNU4ATAC	HP:0010585	Small epiphyses	-	OMIM:226960
100151683	RNU4ATAC	HP:0010582	Irregular epiphyses	-	OMIM:226960
100151683	RNU4ATAC	HP:0010582	Irregular epiphyses	HP:0040281	ORPHA:1824
100151683	RNU4ATAC	HP:0003593	Infantile onset	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0003577	Congenital onset	3/10	OMIM:210710
100151683	RNU4ATAC	HP:0002240	Hepatomegaly	-	OMIM:616651
100151683	RNU4ATAC	HP:0100702	Arachnoid cyst	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0003552	Muscle stiffness	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0002213	Fine hair	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0002209	Sparse scalp hair	-	OMIM:210710
100151683	RNU4ATAC	HP:0002282	Gray matter heterotopia	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0011968	Feeding difficulties	2/10	OMIM:210710
100151683	RNU4ATAC	HP:0003510	Severe short stature	7/7	OMIM:615777
100151683	RNU4ATAC	HP:0003510	Severe short stature	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0002344	Progressive neurologic deterioration	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0002342	Intellectual disability, moderate	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0002335	Agenesis of cerebellar vermis	-	OMIM:210710
100151683	RNU4ATAC	HP:0002315	Headache	-	OMIM:131300
100151683	RNU4ATAC	HP:0004976	Knee dislocation	6/7	OMIM:615777
100151683	RNU4ATAC	HP:0100643	Abnormality of nail color	HP:0040283	ORPHA:1824
100151683	RNU4ATAC	HP:0009826	Limb undergrowth	-	OMIM:210710
100151683	RNU4ATAC	HP:0009832	Abnormal distal phalanx morphology of finger	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0009836	Broad distal phalanx of finger	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0009803	Short phalanx of finger	-	OMIM:615777
100151683	RNU4ATAC	HP:0009778	Short thumb	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0009763	Limb pain	63/92	OMIM:131300
100151683	RNU4ATAC	HP:0003621	Juvenile onset	-	OMIM:131300
100151683	RNU4ATAC	HP:0007185	Loss of consciousness	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0006872	Cerebral hypoplasia	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0005528	Bone marrow hypocellularity	-	OMIM:131300
100151683	RNU4ATAC	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0004209	Clinodactyly of the 5th finger	3/3	OMIM:226960
100151683	RNU4ATAC	HP:0004209	Clinodactyly of the 5th finger	4/6	OMIM:616651
100151683	RNU4ATAC	HP:0004209	Clinodactyly of the 5th finger	HP:0040282	ORPHA:2636
100151683	RNU4ATAC	HP:0004279	Short palm	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0004233	Advanced ossification of carpal bones	7/7	OMIM:615777
100151683	RNU4ATAC	HP:0000639	Nystagmus	HP:0040282	ORPHA:1824
100151683	RNU4ATAC	HP:0000639	Nystagmus	2/2	OMIM:226960
100151683	RNU4ATAC	HP:0000637	Long palpebral fissure	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0000637	Long palpebral fissure	-	OMIM:616651
100151683	RNU4ATAC	HP:6001056	Out-toeing	-	OMIM:131300
100151683	RNU4ATAC	HP:0000651	Diplopia	-	OMIM:131300
100151683	RNU4ATAC	HP:0001954	Recurrent fever	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0001956	Truncal obesity	2/7	OMIM:615777
100151683	RNU4ATAC	HP:0001903	Anemia	HP:0040283	OMIM:131300
100151683	RNU4ATAC	HP:0010049	Short metacarpal	-	OMIM:210710
100151683	RNU4ATAC	HP:0010049	Short metacarpal	-	OMIM:615777
100151683	RNU4ATAC	HP:0010049	Short metacarpal	6/6	OMIM:616651
100151683	RNU4ATAC	HP:0000678	Dental crowding	-	OMIM:615777
100151683	RNU4ATAC	HP:0000662	Nyctalopia	1/3	OMIM:226960
100151683	RNU4ATAC	HP:0000653	Sparse eyelashes	-	OMIM:210710
100151683	RNU4ATAC	HP:0000670	Carious teeth	-	OMIM:131300
100151683	RNU4ATAC	HP:0011304	Broad thumb	2/7	OMIM:615777
100151683	RNU4ATAC	HP:0000668	Hypodontia	-	OMIM:615777
100151683	RNU4ATAC	HP:0000664	Synophrys	-	OMIM:615777
100151683	RNU4ATAC	HP:0004322	Short stature	HP:0040281	ORPHA:1824
100151683	RNU4ATAC	HP:0004322	Short stature	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0004322	Short stature	3/3	OMIM:226960
100151683	RNU4ATAC	HP:0004322	Short stature	-	OMIM:616651
100151683	RNU4ATAC	HP:0006956	Lateral ventricle dilatation	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0004313	Decreased circulating immunoglobulin concentration	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0005613	Aplasia/hypoplasia of the femur	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0030674	Antenatal onset	6/10	OMIM:210710
100151683	RNU4ATAC	HP:0003083	Dislocated radial head	HP:0040283	ORPHA:1824
100151683	RNU4ATAC	HP:0003051	Enlarged metaphyses	-	OMIM:210710
100151683	RNU4ATAC	HP:0004396	Poor appetite	-	OMIM:131300
100151683	RNU4ATAC	HP:0003034	Diaphyseal sclerosis	-	OMIM:131300
100151683	RNU4ATAC	HP:0003048	Radial head subluxation	HP:0040284	OMIM:615777
100151683	RNU4ATAC	HP:0003044	Shoulder flexion contracture	-	OMIM:210710
100151683	RNU4ATAC	HP:0003042	Elbow dislocation	-	OMIM:210710
100151683	RNU4ATAC	HP:0003042	Elbow dislocation	HP:0040283	ORPHA:1824
100151683	RNU4ATAC	HP:0003016	Metaphyseal widening	7/7	OMIM:615777
100151683	RNU4ATAC	HP:0003026	Short long bone	7/7	OMIM:615777
100151683	RNU4ATAC	HP:0031936	Delayed ability to walk	2/7	OMIM:615777
100151683	RNU4ATAC	HP:0000767	Pectus excavatum	2/7	OMIM:615777
100151683	RNU4ATAC	HP:0000768	Pectus carinatum	1/7	OMIM:615777
100151683	RNU4ATAC	HP:0012725	Cutaneous syndactyly	HP:0040284	OMIM:615777
100151683	RNU4ATAC	HP:0000750	Delayed speech and language development	-	OMIM:615777
100151683	RNU4ATAC	HP:0011457	Loss of eyelashes	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0011461	Fetal onset	7/7	OMIM:615777
100151683	RNU4ATAC	HP:0000774	Narrow chest	2/7	OMIM:615777
100151683	RNU4ATAC	HP:0000924	Abnormality of the skeletal system	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0000926	Platyspondyly	HP:0040283	ORPHA:1824
100151683	RNU4ATAC	HP:0000926	Platyspondyly	-	OMIM:210710
100151683	RNU4ATAC	HP:0000926	Platyspondyly	1/7	OMIM:615777
100151683	RNU4ATAC	HP:0003177	Squared iliac bones	2/2	OMIM:226960
100151683	RNU4ATAC	HP:0003172	Abnormal pubic bone morphology	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0003189	Long nose	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0003182	Shallow acetabular fossae	-	OMIM:226960
100151683	RNU4ATAC	HP:0003180	Flat acetabular roof	-	OMIM:615777
100151683	RNU4ATAC	HP:0004482	Relative macrocephaly	-	OMIM:615777
100151683	RNU4ATAC	HP:0005792	Short humerus	-	OMIM:210710
100151683	RNU4ATAC	HP:0005791	Cortical thickening of long bone diaphyses	21/22	OMIM:131300
100151683	RNU4ATAC	HP:0000878	11 pairs of ribs	-	OMIM:210710
100151683	RNU4ATAC	HP:0000890	Long clavicles	-	OMIM:210710
100151683	RNU4ATAC	HP:0012817	Noncompaction cardiomyopathy	HP:0040284	ORPHA:353298
100151683	RNU4ATAC	HP:0012817	Noncompaction cardiomyopathy	1/6	OMIM:616651
100151683	RNU4ATAC	HP:0003097	Short femur	-	OMIM:210710
100151683	RNU4ATAC	HP:0000822	Hypertension	2/10	OMIM:210710
100151683	RNU4ATAC	HP:0000823	Delayed puberty	-	OMIM:131300
100151683	RNU4ATAC	HP:0000894	Short clavicles	-	OMIM:615777
100151683	RNU4ATAC	HP:0003202	Skeletal muscle atrophy	-	OMIM:131300
100151683	RNU4ATAC	HP:0045028	Microlissencephaly	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0003273	Hip contracture	-	OMIM:210710
100151683	RNU4ATAC	HP:0003273	Hip contracture	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0003273	Hip contracture	-	OMIM:616651
100151683	RNU4ATAC	HP:0045075	Sparse eyebrow	-	OMIM:210710
100151683	RNU4ATAC	HP:0045074	Thin eyebrow	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0100258	Preaxial polydactyly	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0011623	Muscular ventricular septal defect	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0000958	Dry skin	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0000954	Single transverse palmar crease	-	OMIM:210710
100151683	RNU4ATAC	HP:0000954	Single transverse palmar crease	2/7	OMIM:615777
100151683	RNU4ATAC	HP:0000954	Single transverse palmar crease	5/6	OMIM:616651
100151683	RNU4ATAC	HP:0000964	Eczematoid dermatitis	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0000964	Eczematoid dermatitis	3/6	OMIM:616651
100151683	RNU4ATAC	HP:0000962	Hyperkeratosis	-	OMIM:210710
100151683	RNU4ATAC	HP:0000939	Osteoporosis	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0000938	Osteopenia	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0000946	Hypoplastic ilia	-	OMIM:210710
100151683	RNU4ATAC	HP:0000944	Abnormal metaphysis morphology	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0008070	Sparse hair	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0008070	Sparse hair	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0007703	Abnormality of retinal pigmentation	HP:0040282	ORPHA:1824
100151683	RNU4ATAC	HP:0000286	Epicanthus	1/7	OMIM:615777
100151683	RNU4ATAC	HP:0000280	Coarse facial features	2/7	OMIM:615777
100151683	RNU4ATAC	HP:0000278	Retrognathia	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0001596	Alopecia	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0000272	Malar flattening	HP:0040282	ORPHA:2636
100151683	RNU4ATAC	HP:0000268	Dolichocephaly	HP:0040282	ORPHA:2636
100151683	RNU4ATAC	HP:0000269	Prominent occiput	-	OMIM:210710
100151683	RNU4ATAC	HP:0000269	Prominent occiput	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0005108	Abnormal intervertebral disk morphology	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0006400	Absent knee epiphyses	-	OMIM:210710
100151683	RNU4ATAC	HP:0002812	Coxa vara	HP:0040282	ORPHA:1824
100151683	RNU4ATAC	HP:0002829	Arthralgia	HP:0040282	ORPHA:1824
100151683	RNU4ATAC	HP:0002827	Hip dislocation	-	OMIM:210710
100151683	RNU4ATAC	HP:0002827	Hip dislocation	2/3	OMIM:226960
100151683	RNU4ATAC	HP:0002827	Hip dislocation	3/7	OMIM:615777
100151683	RNU4ATAC	HP:0006380	Knee flexion contracture	-	OMIM:210710
100151683	RNU4ATAC	HP:0005041	Irregular capital femoral epiphysis	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0006361	Irregular femoral epiphysis	-	OMIM:616651
100151683	RNU4ATAC	HP:0000238	Hydrocephalus	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0000237	Small anterior fontanelle	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0000252	Microcephaly	HP:0040281	ORPHA:1824
100151683	RNU4ATAC	HP:0000252	Microcephaly	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0000252	Microcephaly	5/5	OMIM:226960
100151683	RNU4ATAC	HP:0000252	Microcephaly	10/10	OMIM:210710
100151683	RNU4ATAC	HP:0000252	Microcephaly	-	OMIM:615777
100151683	RNU4ATAC	HP:0000252	Microcephaly	5/6	OMIM:616651
100151683	RNU4ATAC	HP:0000252	Microcephaly	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0000219	Thin upper lip vermilion	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0000219	Thin upper lip vermilion	6/6	OMIM:616651
100151683	RNU4ATAC	HP:0002878	Respiratory failure	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0001562	Oligohydramnios	-	OMIM:210710
100151683	RNU4ATAC	HP:0002857	Genu valgum	-	OMIM:131300
100151683	RNU4ATAC	HP:0001522	Death in infancy	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0001533	Slender build	-	OMIM:131300
100151683	RNU4ATAC	HP:0001508	Failure to thrive	-	OMIM:210710
100151683	RNU4ATAC	HP:0030048	Colpocephaly	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0001518	Small for gestational age	3/3	OMIM:226960
100151683	RNU4ATAC	HP:0001511	Intrauterine growth retardation	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0001511	Intrauterine growth retardation	3/3	OMIM:226960
100151683	RNU4ATAC	HP:0001511	Intrauterine growth retardation	6/10	OMIM:210710
100151683	RNU4ATAC	HP:0001511	Intrauterine growth retardation	7/7	OMIM:615777
100151683	RNU4ATAC	HP:0001511	Intrauterine growth retardation	6/6	OMIM:616651
100151683	RNU4ATAC	HP:0001511	Intrauterine growth retardation	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0011097	Epileptic spasm	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0007807	Optic nerve compression	-	OMIM:131300
100151683	RNU4ATAC	HP:0012368	Flat face	7/7	OMIM:615777
100151683	RNU4ATAC	HP:0006579	Prolonged neonatal jaundice	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0006532	Recurrent pneumonia	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0006532	Recurrent pneumonia	-	OMIM:616651
100151683	RNU4ATAC	HP:0002938	Lumbar hyperlordosis	1/7	OMIM:615777
100151683	RNU4ATAC	HP:0002904	Hyperbilirubinemia	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0006487	Bowing of the long bones	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0000365	Hearing impairment	10/67	OMIM:131300
100151683	RNU4ATAC	HP:0000358	Posteriorly rotated ears	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0000369	Low-set ears	-	OMIM:210710
100151683	RNU4ATAC	HP:0000369	Low-set ears	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0000340	Sloping forehead	2/10	OMIM:210710
100151683	RNU4ATAC	HP:0000340	Sloping forehead	3/3	OMIM:226960
100151683	RNU4ATAC	HP:0000340	Sloping forehead	HP:0040282	ORPHA:2636
100151683	RNU4ATAC	HP:0000343	Long philtrum	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0000343	Long philtrum	1/7	OMIM:615777
100151683	RNU4ATAC	HP:0000343	Long philtrum	6/6	OMIM:616651
100151683	RNU4ATAC	HP:0011001	Increased bone mineral density	-	OMIM:131300
100151683	RNU4ATAC	HP:0002999	Patellar dislocation	HP:0040283	ORPHA:1824
100151683	RNU4ATAC	HP:0001680	Coarctation of aorta	-	OMIM:210710
100151683	RNU4ATAC	HP:0000347	Micrognathia	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0000347	Micrognathia	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0002983	Micromelia	-	OMIM:210710
100151683	RNU4ATAC	HP:0002983	Micromelia	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0002980	Femoral bowing	-	OMIM:210710
100151683	RNU4ATAC	HP:0000316	Hypertelorism	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0000311	Round face	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0000311	Round face	2/7	OMIM:615777
100151683	RNU4ATAC	HP:0000331	Short chin	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0002987	Elbow flexion contracture	-	OMIM:210710
100151683	RNU4ATAC	HP:0002987	Elbow flexion contracture	2/3	OMIM:226960
100151683	RNU4ATAC	HP:0000322	Short philtrum	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0001655	Patent foramen ovale	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0001629	Ventricular septal defect	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0001629	Ventricular septal defect	1/6	OMIM:616651
100151683	RNU4ATAC	HP:0001623	Breech presentation	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0001622	Premature birth	-	OMIM:616651
100151683	RNU4ATAC	HP:0001622	Premature birth	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0002970	Genu varum	-	OMIM:615777
100151683	RNU4ATAC	HP:0001636	Tetralogy of Fallot	-	OMIM:210710
100151683	RNU4ATAC	HP:0001631	Atrial septal defect	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0000303	Mandibular prognathia	-	OMIM:131300
100151683	RNU4ATAC	HP:0006660	Aplastic clavicle	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0007994	Peripheral visual field loss	1/3	OMIM:226960
100151683	RNU4ATAC	HP:0000403	Recurrent otitis media	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0000403	Recurrent otitis media	-	OMIM:616651
100151683	RNU4ATAC	HP:0005280	Depressed nasal bridge	1/7	OMIM:615777
100151683	RNU4ATAC	HP:0000483	Astigmatism	HP:0040283	ORPHA:1824
100151683	RNU4ATAC	HP:0012471	Thick vermilion border	3/3	OMIM:226960
100151683	RNU4ATAC	HP:0012471	Thick vermilion border	HP:0040282	ORPHA:2636
100151683	RNU4ATAC	HP:0000494	Downslanted palpebral fissures	-	OMIM:616651
100151683	RNU4ATAC	HP:0000494	Downslanted palpebral fissures	HP:0040282	ORPHA:2636
100151683	RNU4ATAC	HP:0001795	Hyperconvex nail	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0000463	Anteverted nares	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0000463	Anteverted nares	6/6	OMIM:616651
100151683	RNU4ATAC	HP:0000460	Narrow nose	6/6	OMIM:616651
100151683	RNU4ATAC	HP:0000474	Thickened nuchal skin fold	HP:0040282	ORPHA:2636
100151683	RNU4ATAC	HP:0000470	Short neck	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0000470	Short neck	1/7	OMIM:615777
100151683	RNU4ATAC	HP:0000470	Short neck	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0001773	Short foot	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0001769	Broad foot	HP:0040283	OMIM:615777
100151683	RNU4ATAC	HP:0001763	Pes planus	1/7	OMIM:615777
100151683	RNU4ATAC	HP:0000448	Prominent nose	-	OMIM:210710
100151683	RNU4ATAC	HP:0000448	Prominent nose	3/3	OMIM:226960
100151683	RNU4ATAC	HP:0000448	Prominent nose	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0000446	Narrow nasal bridge	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0000414	Bulbous nose	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0001744	Splenomegaly	-	OMIM:616651
100151683	RNU4ATAC	HP:0000430	Underdeveloped nasal alae	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0000430	Underdeveloped nasal alae	-	OMIM:616651
100151683	RNU4ATAC	HP:0005419	Decreased T cell activation	-	ORPHA:353298
100151683	RNU4ATAC	HP:0005487	Prominent metopic ridge	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0001840	Metatarsus adductus	-	OMIM:615777
100151683	RNU4ATAC	HP:0000520	Proptosis	2/4	OMIM:131300
100151683	RNU4ATAC	HP:0000520	Proptosis	1/10	OMIM:210710
100151683	RNU4ATAC	HP:0000520	Proptosis	7/7	OMIM:615777
100151683	RNU4ATAC	HP:0000520	Proptosis	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0001833	Long foot	-	OMIM:210710
100151683	RNU4ATAC	HP:0000505	Visual impairment	HP:0040283	ORPHA:1824
100151683	RNU4ATAC	HP:0000501	Glaucoma	HP:0040281	ORPHA:2636
100151683	RNU4ATAC	HP:0001831	Short toe	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0001831	Short toe	-	OMIM:616651
100151683	RNU4ATAC	HP:0000580	Pigmentary retinopathy	1/3	OMIM:226960
100151683	RNU4ATAC	HP:0000592	Blue sclerae	2/7	OMIM:615777
100151683	RNU4ATAC	HP:0011231	Prominent eyelashes	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0011231	Prominent eyelashes	-	OMIM:616651
100151683	RNU4ATAC	HP:0000556	Retinal dystrophy	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0000556	Retinal dystrophy	3/6	OMIM:616651
100151683	RNU4ATAC	HP:0001863	Toe clinodactyly	1/7	OMIM:615777
100151683	RNU4ATAC	HP:0001880	Increased total eosinophil count	HP:0040282	ORPHA:353298
100151683	RNU4ATAC	HP:0001880	Increased total eosinophil count	-	OMIM:616651
100151683	RNU4ATAC	HP:0012514	Lower limb pain	4/4	OMIM:131300
100288687	DUX4	HP:0001288	Gait disturbance	HP:0040282	ORPHA:269
100288687	DUX4	HP:0001250	Seizure	HP:0040283	ORPHA:269
100288687	DUX4	HP:0012037	Pectoralis amyotrophy	HP:0040282	ORPHA:269
100288687	DUX4	HP:0002650	Scoliosis	HP:0040282	ORPHA:269
100288687	DUX4	HP:0008959	Distal upper limb muscle weakness	HP:0040282	ORPHA:269
100288687	DUX4	HP:0003325	Limb-girdle muscle weakness	HP:0040282	ORPHA:269
100288687	DUX4	HP:0004673	Decreased facial expression	HP:0040282	ORPHA:269
100288687	DUX4	HP:0003307	Hyperlordosis	HP:0040281	ORPHA:269
100288687	DUX4	HP:0003323	Progressive muscle weakness	HP:0040281	ORPHA:269
100288687	DUX4	HP:0002093	Respiratory insufficiency	HP:0040283	ORPHA:269
100288687	DUX4	HP:0002091	Restrictive ventilatory defect	HP:0040282	ORPHA:269
100288687	DUX4	HP:0003376	Steppage gait	HP:0040282	ORPHA:269
100288687	DUX4	HP:0011712	Complete right bundle branch block	HP:0040282	ORPHA:269
100288687	DUX4	HP:0100595	Camptocormia	HP:0040282	ORPHA:269
100288687	DUX4	HP:0003458	EMG: myopathic abnormalities	HP:0040282	ORPHA:269
100288687	DUX4	HP:0003691	Scapular winging	HP:0040281	ORPHA:269
100288687	DUX4	HP:0002359	Frequent falls	HP:0040282	ORPHA:269
100288687	DUX4	HP:0009023	Abdominal wall muscle weakness	HP:0040282	ORPHA:269
100288687	DUX4	HP:0009027	Foot dorsiflexor weakness	HP:0040282	ORPHA:269
100288687	DUX4	HP:0030664	Beevor's sign	HP:0040282	ORPHA:269
100288687	DUX4	HP:0000767	Pectus excavatum	HP:0040282	ORPHA:269
100288687	DUX4	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040281	ORPHA:269
100288687	DUX4	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:269
100288687	DUX4	HP:0008046	Abnormal retinal vascular morphology	HP:0040282	ORPHA:269
100288687	DUX4	HP:0000298	Mask-like facies	HP:0040281	ORPHA:269
100288687	DUX4	HP:0005115	Supraventricular arrhythmia	HP:0040283	ORPHA:269
100288687	DUX4	HP:0030002	Nocturnal lagophthalmos	HP:0040282	ORPHA:269
100288687	DUX4	HP:0001538	Protuberant abdomen	HP:0040282	ORPHA:269
100288687	DUX4	HP:0006587	Straight clavicles	HP:0040282	ORPHA:269
100288687	DUX4	HP:0007898	Exudative retinopathy	HP:0040283	ORPHA:269
100288687	DUX4	HP:0030319	Weakness of facial musculature	HP:0040282	ORPHA:269
100288687	DUX4	HP:0000407	Sensorineural hearing impairment	HP:0040282	ORPHA:269
100288687	DUX4	HP:0000491	Keratitis	HP:0040282	ORPHA:269
100288687	DUX4	HP:0000509	Conjunctivitis	HP:0040282	ORPHA:269
100288687	DUX4	HP:0000572	Visual loss	HP:0040283	ORPHA:269
100288687	DUX4	HP:0012532	Chronic pain	HP:0040282	ORPHA:269
100288687	DUX4	HP:0000541	Retinal detachment	HP:0040283	ORPHA:269
100303755	PET117	HP:0002490	Increased CSF lactate	1/1	OMIM:619063
100303755	PET117	HP:0001270	Motor delay	2/2	OMIM:619063
100303755	PET117	HP:0500233	Increased CSF alanine concentration	1/1	OMIM:619063
100303755	PET117	HP:0000007	Autosomal recessive inheritance	-	OMIM:619063
100303755	PET117	HP:0002067	Bradykinesia	2/2	OMIM:619063
100303755	PET117	HP:0003487	Babinski sign	2/2	OMIM:619063
100303755	PET117	HP:0002154	Hyperglycinemia	3/4	OMIM:619063
100303755	PET117	HP:0002151	Increased circulating lactate concentration	2/2	OMIM:619063
100303755	PET117	HP:0002243	Protein-losing enteropathy	1/2	OMIM:619063
100303755	PET117	HP:0002205	Recurrent respiratory infections	1/2	OMIM:619063
100303755	PET117	HP:0008347	Decreased activity of mitochondrial complex IV	2/2	OMIM:619063
100303755	PET117	HP:0002375	Hypokinesia	2/2	OMIM:619063
100303755	PET117	HP:0002376	Developmental regression	2/2	OMIM:619063
100303755	PET117	HP:0003648	Lacticaciduria	-	OMIM:619063
100303755	PET117	HP:0003621	Juvenile onset	1/2	OMIM:619063
100303755	PET117	HP:0011463	Childhood onset	1/2	OMIM:619063
100303755	PET117	HP:0040014	Increased mitochondrial number	2/2	OMIM:619063
100506658	OCLN	HP:0001250	Seizure	HP:0040281	ORPHA:1229
100506658	OCLN	HP:0001250	Seizure	5/5	OMIM:251290
100506658	OCLN	HP:0001252	Hypotonia	3/5	OMIM:251290
100506658	OCLN	HP:0001263	Global developmental delay	5/5	OMIM:251290
100506658	OCLN	HP:0001257	Spasticity	HP:0040281	ORPHA:1229
100506658	OCLN	HP:0001257	Spasticity	-	OMIM:251290
100506658	OCLN	HP:0002514	Cerebral calcification	HP:0040281	ORPHA:1229
100506658	OCLN	HP:0002514	Cerebral calcification	-	OMIM:251290
100506658	OCLN	HP:0000083	Renal insufficiency	HP:0040283	OMIM:251290
100506658	OCLN	HP:0001347	Hyperreflexia	HP:0040281	ORPHA:1229
100506658	OCLN	HP:0001347	Hyperreflexia	4/5	OMIM:251290
100506658	OCLN	HP:0001332	Dystonia	2/5	OMIM:251290
100506658	OCLN	HP:0001339	Lissencephaly	-	OMIM:251290
100506658	OCLN	HP:0000007	Autosomal recessive inheritance	-	OMIM:251290
100506658	OCLN	HP:0001302	Pachygyria	-	OMIM:251290
100506658	OCLN	HP:0001321	Cerebellar hypoplasia	-	OMIM:251290
100506658	OCLN	HP:0410030	Cleft lip	1/5	OMIM:251290
100506658	OCLN	HP:0008936	Axial hypotonia	-	OMIM:251290
100506658	OCLN	HP:0001410	Decreased liver function	-	OMIM:251290
100506658	OCLN	HP:0002120	Cerebral cortical atrophy	HP:0040282	ORPHA:1229
100506658	OCLN	HP:0002119	Ventriculomegaly	-	OMIM:251290
100506658	OCLN	HP:0002126	Polymicrogyria	-	OMIM:251290
100506658	OCLN	HP:0002187	Intellectual disability, profound	-	OMIM:251290
100506658	OCLN	HP:0003593	Infantile onset	2/4	OMIM:251290
100506658	OCLN	HP:0002240	Hepatomegaly	-	OMIM:251290
100506658	OCLN	HP:0003623	Neonatal onset	2/4	OMIM:251290
100506658	OCLN	HP:0000639	Nystagmus	-	OMIM:251290
100506658	OCLN	HP:0100022	Abnormality of movement	HP:0040282	ORPHA:1229
100506658	OCLN	HP:0000952	Jaundice	-	OMIM:251290
100506658	OCLN	HP:0000967	Petechiae	-	OMIM:251290
100506658	OCLN	HP:0007759	Opacification of the corneal stroma	HP:0040283	OMIM:251290
100506658	OCLN	HP:0000252	Microcephaly	HP:0040281	ORPHA:1229
100506658	OCLN	HP:0000252	Microcephaly	-	OMIM:251290
100506658	OCLN	HP:0000218	High palate	-	OMIM:251290
100506658	OCLN	HP:0001537	Umbilical hernia	1/5	OMIM:251290
100506658	OCLN	HP:0001508	Failure to thrive	-	OMIM:251290
100506658	OCLN	HP:0002910	Elevated circulating hepatic transaminase concentration	-	OMIM:251290
100506658	OCLN	HP:0002922	Increased CSF protein concentration	4/5	OMIM:251290
100506658	OCLN	HP:0000369	Low-set ears	-	OMIM:251290
100506658	OCLN	HP:0000340	Sloping forehead	-	OMIM:251290
100506658	OCLN	HP:0000343	Long philtrum	-	OMIM:251290
100506658	OCLN	HP:0001643	Patent ductus arteriosus	2/5	OMIM:251290
100506658	OCLN	HP:0001655	Patent foramen ovale	1/5	OMIM:251290
100506658	OCLN	HP:0000308	Microretrognathia	-	OMIM:251290
100506658	OCLN	HP:0000463	Anteverted nares	-	OMIM:251290
100506658	OCLN	HP:0001744	Splenomegaly	-	OMIM:251290
100506658	OCLN	HP:0000518	Cataract	HP:0040283	OMIM:251290
100506658	OCLN	HP:0001873	Thrombocytopenia	-	OMIM:251290
100820829	MYZAP	HP:0031185	Increased circulating NT-proBNP concentration	2/2	OMIM:620894
100820829	MYZAP	HP:0000007	Autosomal recessive inheritance	-	OMIM:620894
100820829	MYZAP	HP:0002094	Dyspnea	1/1	OMIM:620894
100820829	MYZAP	HP:0004756	Ventricular tachycardia	3/4	OMIM:620894
100820829	MYZAP	HP:0003621	Juvenile onset	1/2	OMIM:620894
100820829	MYZAP	HP:0001962	Palpitations	1/1	OMIM:620894
100820829	MYZAP	HP:0012665	Moderately reduced left ventricular ejection fraction	1/1	OMIM:620894
100820829	MYZAP	HP:0012666	Severely reduced left ventricular ejection fraction	2/4	OMIM:620894
100820829	MYZAP	HP:0012663	Mildly reduced left ventricular ejection fraction	1/1	OMIM:620894
100820829	MYZAP	HP:0011462	Young adult onset	3/4	OMIM:620894
100820829	MYZAP	HP:0001685	Myocardial fibrosis	4/4	OMIM:620894
100820829	MYZAP	HP:0001644	Dilated cardiomyopathy	4/4	OMIM:620894
100820829	MYZAP	HP:0001635	Congestive heart failure	1/1	OMIM:620894
100820829	MYZAP	HP:0006682	Premature ventricular contraction	1/2	OMIM:620894
100996717	NOTCH2NLC	HP:0002415	Leukodystrophy	0/1	OMIM:618866
100996717	NOTCH2NLC	HP:0003700	Generalized amyotrophy	2/7	OMIM:619473
100996717	NOTCH2NLC	HP:0001276	Hypertonia	HP:0040282	ORPHA:2289
100996717	NOTCH2NLC	HP:0001272	Cerebellar atrophy	0/1	OMIM:618866
100996717	NOTCH2NLC	HP:0001288	Gait disturbance	-	OMIM:603472
100996717	NOTCH2NLC	HP:0001288	Gait disturbance	HP:0040283	ORPHA:98897
100996717	NOTCH2NLC	HP:0001284	Areflexia	HP:0040283	ORPHA:98897
100996717	NOTCH2NLC	HP:0001279	Syncope	3/57	OMIM:603472
100996717	NOTCH2NLC	HP:0001250	Seizure	6/57	OMIM:603472
100996717	NOTCH2NLC	HP:0001250	Seizure	HP:0040282	ORPHA:2289
100996717	NOTCH2NLC	HP:0001251	Ataxia	20/56	OMIM:603472
100996717	NOTCH2NLC	HP:0001251	Ataxia	3/6	OMIM:619473
100996717	NOTCH2NLC	HP:0001251	Ataxia	HP:0040281	ORPHA:2289
100996717	NOTCH2NLC	HP:0001265	Hyporeflexia	-	OMIM:603472
100996717	NOTCH2NLC	HP:0001265	Hyporeflexia	7/7	OMIM:619473
100996717	NOTCH2NLC	HP:0001260	Dysarthria	2/57	OMIM:603472
100996717	NOTCH2NLC	HP:0001260	Dysarthria	7/7	OMIM:619473
100996717	NOTCH2NLC	HP:0001260	Dysarthria	HP:0040281	ORPHA:2289
100996717	NOTCH2NLC	HP:0002572	Episodic vomiting	12/57	OMIM:603472
100996717	NOTCH2NLC	HP:0008756	Bowing of the vocal cords	HP:0040282	ORPHA:98897
100996717	NOTCH2NLC	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:98897
100996717	NOTCH2NLC	HP:0003805	Rimmed vacuoles	7/7	OMIM:619473
100996717	NOTCH2NLC	HP:0000020	Urinary incontinence	22/52	OMIM:603472
100996717	NOTCH2NLC	HP:0001347	Hyperreflexia	HP:0040282	ORPHA:2289
100996717	NOTCH2NLC	HP:0031162	Impaired oropharyngeal swallow response	HP:0040282	ORPHA:98897
100996717	NOTCH2NLC	HP:0001324	Muscle weakness	28/56	OMIM:603472
100996717	NOTCH2NLC	HP:0001337	Tremor	12/57	OMIM:603472
100996717	NOTCH2NLC	HP:0001337	Tremor	1/6	OMIM:619473
100996717	NOTCH2NLC	HP:0000006	Autosomal dominant inheritance	-	OMIM:619473
100996717	NOTCH2NLC	HP:0000006	Autosomal dominant inheritance	-	OMIM:618866
100996717	NOTCH2NLC	HP:0000006	Autosomal dominant inheritance	-	OMIM:603472
100996717	NOTCH2NLC	HP:0002650	Scoliosis	HP:0040282	ORPHA:2289
100996717	NOTCH2NLC	HP:0000183	Tongue muscle weakness	HP:0040282	ORPHA:98897
100996717	NOTCH2NLC	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040284	ORPHA:98897
100996717	NOTCH2NLC	HP:0008959	Distal upper limb muscle weakness	HP:0040283	ORPHA:98897
100996717	NOTCH2NLC	HP:0008963	Tibialis muscle weakness	HP:0040283	ORPHA:98897
100996717	NOTCH2NLC	HP:0008944	Distal lower limb amyotrophy	HP:0040282	ORPHA:98897
100996717	NOTCH2NLC	HP:0002705	High, narrow palate	HP:0040282	ORPHA:98897
100996717	NOTCH2NLC	HP:0031237	Internally nucleated skeletal muscle fibers	1/7	OMIM:619473
100996717	NOTCH2NLC	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:98897
100996717	NOTCH2NLC	HP:0002015	Dysphagia	5/7	OMIM:619473
100996717	NOTCH2NLC	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282	ORPHA:2289
100996717	NOTCH2NLC	HP:0100543	Cognitive impairment	18/41	OMIM:603472
100996717	NOTCH2NLC	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:98897
100996717	NOTCH2NLC	HP:0002063	Rigidity	10/56	OMIM:603472
100996717	NOTCH2NLC	HP:0002058	Myopathic facies	HP:0040282	ORPHA:98897
100996717	NOTCH2NLC	HP:0003474	Somatic sensory dysfunction	-	OMIM:603472
100996717	NOTCH2NLC	HP:0002119	Ventriculomegaly	47/51	OMIM:603472
100996717	NOTCH2NLC	HP:0003448	Decreased sensory nerve conduction velocity	33/43	OMIM:603472
100996717	NOTCH2NLC	HP:0003457	EMG abnormality	HP:0040281	ORPHA:2289
100996717	NOTCH2NLC	HP:0002100	Recurrent aspiration pneumonia	HP:0040282	ORPHA:98897
100996717	NOTCH2NLC	HP:0003431	Decreased motor nerve conduction velocity	40/43	OMIM:603472
100996717	NOTCH2NLC	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	11/42	OMIM:603472
100996717	NOTCH2NLC	HP:0002167	Abnormal speech pattern	HP:0040281	ORPHA:2289
100996717	NOTCH2NLC	HP:0002174	Postural tremor	-	OMIM:618866
100996717	NOTCH2NLC	HP:0010550	Paraplegia	HP:0040284	ORPHA:98897
100996717	NOTCH2NLC	HP:0003596	Middle age onset	3/7	OMIM:619473
100996717	NOTCH2NLC	HP:0003593	Infantile onset	1/7	OMIM:619473
100996717	NOTCH2NLC	HP:0003581	Adult onset	-	OMIM:618866
100996717	NOTCH2NLC	HP:0003557	Increased variability in muscle fiber diameter	7/7	OMIM:619473
100996717	NOTCH2NLC	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:98897
100996717	NOTCH2NLC	HP:0008376	Nasal dysarthria	HP:0040281	ORPHA:98897
100996717	NOTCH2NLC	HP:0430015	Abnormal morphology of musculature of pharynx	HP:0040282	ORPHA:98897
100996717	NOTCH2NLC	HP:0003693	Distal amyotrophy	3/7	OMIM:619473
100996717	NOTCH2NLC	HP:0003690	Limb muscle weakness	7/7	OMIM:619473
100996717	NOTCH2NLC	HP:0002353	EEG abnormality	HP:0040282	ORPHA:2289
100996717	NOTCH2NLC	HP:0002352	Leukoencephalopathy	3/6	OMIM:619473
100996717	NOTCH2NLC	HP:0002352	Leukoencephalopathy	47/51	OMIM:603472
100996717	NOTCH2NLC	HP:0002346	Head tremor	74/197	OMIM:618866
100996717	NOTCH2NLC	HP:0007149	Distal upper limb amyotrophy	HP:0040282	ORPHA:98897
100996717	NOTCH2NLC	HP:0007185	Loss of consciousness	20/57	OMIM:603472
100996717	NOTCH2NLC	HP:0009073	Progressive proximal muscle weakness	HP:0040283	ORPHA:98897
100996717	NOTCH2NLC	HP:0000639	Nystagmus	HP:0040282	ORPHA:2289
100996717	NOTCH2NLC	HP:0000648	Optic atrophy	HP:0040283	ORPHA:2289
100996717	NOTCH2NLC	HP:0000616	Miosis	1/6	OMIM:619473
100996717	NOTCH2NLC	HP:0000616	Miosis	24/39	OMIM:603472
100996717	NOTCH2NLC	HP:0000613	Photophobia	1/6	OMIM:619473
100996717	NOTCH2NLC	HP:0000602	Ophthalmoplegia	HP:0040282	ORPHA:2289
100996717	NOTCH2NLC	HP:0000602	Ophthalmoplegia	7/7	OMIM:619473
100996717	NOTCH2NLC	HP:0000600	Abnormality of the pharynx	HP:0040283	ORPHA:2289
100996717	NOTCH2NLC	HP:0009063	Progressive distal muscle weakness	HP:0040282	ORPHA:98897
100996717	NOTCH2NLC	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:98897
100996717	NOTCH2NLC	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:98897
100996717	NOTCH2NLC	HP:0100022	Abnormality of movement	HP:0040281	ORPHA:2289
100996717	NOTCH2NLC	HP:0000726	Dementia	HP:0040282	ORPHA:2289
100996717	NOTCH2NLC	HP:0000726	Dementia	45/57	OMIM:603472
100996717	NOTCH2NLC	HP:0000708	Atypical behavior	HP:0040282	ORPHA:2289
100996717	NOTCH2NLC	HP:0000708	Atypical behavior	12/56	OMIM:603472
100996717	NOTCH2NLC	HP:0011462	Young adult onset	3/7	OMIM:619473
100996717	NOTCH2NLC	HP:0003236	Elevated circulating creatine kinase concentration	5/7	OMIM:619473
100996717	NOTCH2NLC	HP:0003298	Spina bifida occulta	HP:0040282	ORPHA:2289
100996717	NOTCH2NLC	HP:0100297	Increased endomysial connective tissue	7/7	OMIM:619473
100996717	NOTCH2NLC	HP:0012229	CSF pleocytosis	5/39	OMIM:603472
100996717	NOTCH2NLC	HP:0000218	High palate	HP:0040282	ORPHA:98897
100996717	NOTCH2NLC	HP:0007838	Progressive ptosis	HP:0040281	ORPHA:98897
100996717	NOTCH2NLC	HP:0030186	Kinetic tremor	-	OMIM:618866
100996717	NOTCH2NLC	HP:0001604	Vocal cord paresis	HP:0040282	ORPHA:98897
100996717	NOTCH2NLC	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040283	ORPHA:98897
100996717	NOTCH2NLC	HP:0002922	Increased CSF protein concentration	5/5	OMIM:619473
100996717	NOTCH2NLC	HP:0002922	Increased CSF protein concentration	23/39	OMIM:603472
100996717	NOTCH2NLC	HP:0000301	Abnormality of facial musculature	HP:0040281	ORPHA:98897
100996717	NOTCH2NLC	HP:0030319	Weakness of facial musculature	HP:0040281	ORPHA:98897
100996717	NOTCH2NLC	HP:0030319	Weakness of facial musculature	5/7	OMIM:619473
100996717	NOTCH2NLC	HP:0012477	Vocal tremor	24/197	OMIM:618866
100996717	NOTCH2NLC	HP:3000010	Abnormality of orbicularis oris muscle	HP:0040284	ORPHA:98897
100996717	NOTCH2NLC	HP:0000408	Progressive sensorineural hearing impairment	HP:0040283	ORPHA:98897
100996717	NOTCH2NLC	HP:3000005	Abnormality of masseter muscle	HP:0040283	ORPHA:98897
100996717	NOTCH2NLC	HP:0000407	Sensorineural hearing impairment	1/7	OMIM:619473
100996717	NOTCH2NLC	HP:0000405	Conductive hearing impairment	1/7	OMIM:619473
100996717	NOTCH2NLC	HP:0000467	Neck muscle weakness	3/7	OMIM:619473
100996717	NOTCH2NLC	HP:0001824	Weight loss	HP:0040281	ORPHA:98897
100996717	NOTCH2NLC	HP:0000508	Ptosis	7/7	OMIM:619473
100996717	NOTCH2NLC	HP:0000597	Ophthalmoparesis	HP:0040281	ORPHA:98897
100996717	NOTCH2NLC	HP:0000580	Pigmentary retinopathy	2/7	OMIM:619473
100996717	NOTCH2NLC	HP:0000590	Progressive external ophthalmoplegia	HP:0040281	ORPHA:98897
101060691	NUTM2B-AS1	HP:0002460	Distal muscle weakness	4/4	OMIM:618637
101060691	NUTM2B-AS1	HP:0003701	Proximal muscle weakness	4/4	OMIM:618637
101060691	NUTM2B-AS1	HP:0001288	Gait disturbance	HP:0040283	ORPHA:98897
101060691	NUTM2B-AS1	HP:0001284	Areflexia	HP:0040283	ORPHA:98897
101060691	NUTM2B-AS1	HP:0001251	Ataxia	1/4	OMIM:618637
101060691	NUTM2B-AS1	HP:0002579	Gastrointestinal dysmotility	-	OMIM:618637
101060691	NUTM2B-AS1	HP:0001260	Dysarthria	6/6	OMIM:618637
101060691	NUTM2B-AS1	HP:0008756	Bowing of the vocal cords	HP:0040282	ORPHA:98897
101060691	NUTM2B-AS1	HP:0002505	Loss of ambulation	HP:0040283	ORPHA:98897
101060691	NUTM2B-AS1	HP:0031162	Impaired oropharyngeal swallow response	HP:0040282	ORPHA:98897
101060691	NUTM2B-AS1	HP:0001337	Tremor	1/4	OMIM:618637
101060691	NUTM2B-AS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:618637
101060691	NUTM2B-AS1	HP:0000183	Tongue muscle weakness	HP:0040282	ORPHA:98897
101060691	NUTM2B-AS1	HP:0008997	Proximal muscle weakness in upper limbs	HP:0040284	ORPHA:98897
101060691	NUTM2B-AS1	HP:0008959	Distal upper limb muscle weakness	HP:0040283	ORPHA:98897
101060691	NUTM2B-AS1	HP:0008963	Tibialis muscle weakness	HP:0040283	ORPHA:98897
101060691	NUTM2B-AS1	HP:0008944	Distal lower limb amyotrophy	HP:0040282	ORPHA:98897
101060691	NUTM2B-AS1	HP:0002705	High, narrow palate	HP:0040282	ORPHA:98897
101060691	NUTM2B-AS1	HP:0002747	Respiratory insufficiency due to muscle weakness	HP:0040282	ORPHA:98897
101060691	NUTM2B-AS1	HP:0002015	Dysphagia	4/6	OMIM:618637
101060691	NUTM2B-AS1	HP:0002091	Restrictive ventilatory defect	HP:0040283	ORPHA:98897
101060691	NUTM2B-AS1	HP:0002058	Myopathic facies	HP:0040282	ORPHA:98897
101060691	NUTM2B-AS1	HP:0002059	Cerebral atrophy	-	OMIM:618637
101060691	NUTM2B-AS1	HP:0002100	Recurrent aspiration pneumonia	HP:0040282	ORPHA:98897
101060691	NUTM2B-AS1	HP:0010550	Paraplegia	HP:0040284	ORPHA:98897
101060691	NUTM2B-AS1	HP:0003581	Adult onset	-	OMIM:618637
101060691	NUTM2B-AS1	HP:0200136	Oral-pharyngeal dysphagia	HP:0040282	ORPHA:98897
101060691	NUTM2B-AS1	HP:0008376	Nasal dysarthria	HP:0040281	ORPHA:98897
101060691	NUTM2B-AS1	HP:0430015	Abnormal morphology of musculature of pharynx	HP:0040282	ORPHA:98897
101060691	NUTM2B-AS1	HP:0007149	Distal upper limb amyotrophy	HP:0040282	ORPHA:98897
101060691	NUTM2B-AS1	HP:0009073	Progressive proximal muscle weakness	HP:0040283	ORPHA:98897
101060691	NUTM2B-AS1	HP:0009063	Progressive distal muscle weakness	HP:0040282	ORPHA:98897
101060691	NUTM2B-AS1	HP:0009053	Distal lower limb muscle weakness	HP:0040282	ORPHA:98897
101060691	NUTM2B-AS1	HP:0009027	Foot dorsiflexor weakness	HP:0040283	ORPHA:98897
101060691	NUTM2B-AS1	HP:0002878	Respiratory failure	2/4	OMIM:618637
101060691	NUTM2B-AS1	HP:0000218	High palate	HP:0040282	ORPHA:98897
101060691	NUTM2B-AS1	HP:0007838	Progressive ptosis	HP:0040281	ORPHA:98897
101060691	NUTM2B-AS1	HP:0001604	Vocal cord paresis	HP:0040282	ORPHA:98897
101060691	NUTM2B-AS1	HP:0030192	Fatigable weakness of bulbar muscles	HP:0040283	ORPHA:98897
101060691	NUTM2B-AS1	HP:0000301	Abnormality of facial musculature	HP:0040281	ORPHA:98897
101060691	NUTM2B-AS1	HP:0030319	Weakness of facial musculature	4/4	OMIM:618637
101060691	NUTM2B-AS1	HP:0030319	Weakness of facial musculature	HP:0040281	ORPHA:98897
101060691	NUTM2B-AS1	HP:3000010	Abnormality of orbicularis oris muscle	HP:0040284	ORPHA:98897
101060691	NUTM2B-AS1	HP:0000408	Progressive sensorineural hearing impairment	HP:0040283	ORPHA:98897
101060691	NUTM2B-AS1	HP:3000005	Abnormality of masseter muscle	HP:0040283	ORPHA:98897
101060691	NUTM2B-AS1	HP:0001824	Weight loss	HP:0040281	ORPHA:98897
101060691	NUTM2B-AS1	HP:0000508	Ptosis	6/6	OMIM:618637
101060691	NUTM2B-AS1	HP:0000597	Ophthalmoparesis	HP:0040281	ORPHA:98897
101060691	NUTM2B-AS1	HP:0000590	Progressive external ophthalmoplegia	HP:0040281	ORPHA:98897
101060691	NUTM2B-AS1	HP:0000544	External ophthalmoplegia	3/4	OMIM:618637
101101692	HELLPAR	HP:0007430	Generalized edema	HP:0040282	ORPHA:244242
101101692	HELLPAR	HP:0000093	Proteinuria	HP:0040282	ORPHA:244242
101101692	HELLPAR	HP:0001342	Cerebral hemorrhage	HP:0040284	ORPHA:244242
101101692	HELLPAR	HP:0002615	Hypotension	HP:0040283	ORPHA:244242
101101692	HELLPAR	HP:0025435	Increased circulating lactate dehydrogenase concentration	HP:0040283	ORPHA:244242
101101692	HELLPAR	HP:0410019	Epigastric pain	HP:0040283	ORPHA:244242
101101692	HELLPAR	HP:0002018	Nausea	HP:0040283	ORPHA:244242
101101692	HELLPAR	HP:0002027	Abdominal pain	HP:0040283	ORPHA:244242
101101692	HELLPAR	HP:0002013	Vomiting	HP:0040283	ORPHA:244242
101101692	HELLPAR	HP:0100598	Pulmonary edema	HP:0040283	ORPHA:244242
101101692	HELLPAR	HP:0008151	Prolonged prothrombin time	HP:0040282	ORPHA:244242
101101692	HELLPAR	HP:0003418	Back pain	HP:0040283	ORPHA:244242
101101692	HELLPAR	HP:0011900	Hypofibrinogenemia	HP:0040282	ORPHA:244242
101101692	HELLPAR	HP:0002202	Pleural effusion	HP:0040283	ORPHA:244242
101101692	HELLPAR	HP:0001058	Poor wound healing	HP:0040283	ORPHA:244242
101101692	HELLPAR	HP:0002315	Headache	HP:0040282	ORPHA:244242
101101692	HELLPAR	HP:0100601	Eclampsia	HP:0040283	ORPHA:244242
101101692	HELLPAR	HP:0100602	Preeclampsia	HP:0040282	ORPHA:244242
101101692	HELLPAR	HP:0003641	Hemoglobinuria	HP:0040283	ORPHA:244242
101101692	HELLPAR	HP:0005521	Disseminated intravascular coagulation	HP:0040283	ORPHA:244242
101101692	HELLPAR	HP:0001937	Microangiopathic hemolytic anemia	HP:0040283	ORPHA:244242
101101692	HELLPAR	HP:0001919	Acute kidney injury	HP:0040284	ORPHA:244242
101101692	HELLPAR	HP:0004324	Increased body weight	HP:0040282	ORPHA:244242
101101692	HELLPAR	HP:0011419	Placental abruption	HP:0040283	ORPHA:244242
101101692	HELLPAR	HP:0030834	Shoulder pain	HP:0040283	ORPHA:244242
101101692	HELLPAR	HP:0008071	Maternal hypertension	HP:0040282	ORPHA:244242
101101692	HELLPAR	HP:0025547	Decreased mean corpuscular hemoglobin concentration	HP:0040283	ORPHA:244242
101101692	HELLPAR	HP:0012378	Fatigue	HP:0040282	ORPHA:244242
101101692	HELLPAR	HP:0011029	Internal hemorrhage	HP:0040284	ORPHA:244242
101101692	HELLPAR	HP:0002910	Elevated circulating hepatic transaminase concentration	HP:0040280	ORPHA:244242
101101692	HELLPAR	HP:0001878	Hemolytic anemia	HP:0040281	ORPHA:244242
101101692	HELLPAR	HP:0001873	Thrombocytopenia	HP:0040280	ORPHA:244242
101928376	IL12A-AS1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0010885	Avascular necrosis	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0100820	Glomerulopathy	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0001269	Hemiparesis	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0001287	Meningitis	HP:0040281	ORPHA:117
101928376	IL12A-AS1	HP:0001289	Confusion	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0001288	Gait disturbance	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0001250	Seizure	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0001251	Ataxia	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0002516	Increased intracranial pressure	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0000083	Renal insufficiency	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0000099	Glomerulonephritis	HP:0040284	ORPHA:117
101928376	IL12A-AS1	HP:0001369	Arthritis	HP:0040281	ORPHA:117
101928376	IL12A-AS1	HP:0001347	Hyperreflexia	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0000031	Epididymitis	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0002638	Superficial thrombophlebitis	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0002637	Cerebral ischemia	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0002633	Vasculitis	HP:0040281	ORPHA:117
101928376	IL12A-AS1	HP:0000155	Oral ulcer	HP:0040281	ORPHA:117
101928376	IL12A-AS1	HP:0001482	Subcutaneous nodule	HP:0040281	ORPHA:117
101928376	IL12A-AS1	HP:0012121	Panuveitis	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0002716	Lymphadenopathy	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0002024	Malabsorption	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0002017	Nausea and vomiting	HP:0040281	ORPHA:117
101928376	IL12A-AS1	HP:0002027	Abdominal pain	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0003326	Myalgia	HP:0040281	ORPHA:117
101928376	IL12A-AS1	HP:0002014	Diarrhea	HP:0040284	ORPHA:117
101928376	IL12A-AS1	HP:0002076	Migraine	HP:0040281	ORPHA:117
101928376	IL12A-AS1	HP:0002039	Anorexia	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0100584	Endocarditis	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0002102	Pleuritis	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0002113	Pulmonary infiltrates	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0002105	Hemoptysis	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0003401	Paresthesia	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0002239	Gastrointestinal hemorrhage	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0003565	Elevated erythrocyte sedimentation rate	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0002202	Pleural effusion	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0002204	Pulmonary embolism	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0100796	Orchitis	HP:0040281	ORPHA:117
101928376	IL12A-AS1	HP:0100758	Gangrene	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0002383	Infectious encephalitis	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0001061	Acne	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0002376	Developmental regression	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0002354	Memory impairment	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0002321	Vertigo	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0002315	Headache	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0100653	Optic neuritis	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0100654	Retrobulbar optic neuritis	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0200034	Papule	HP:0040281	ORPHA:117
101928376	IL12A-AS1	HP:0001097	Keratoconjunctivitis sicca	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0100614	Myositis	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0200039	Pustule	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0004936	Venous thrombosis	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0033430	Non-infectious meningitis	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0006824	Cranial nerve paralysis	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:4000041	AA amyloidosis	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0000618	Blindness	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0000613	Photophobia	HP:0040281	ORPHA:117
101928376	IL12A-AS1	HP:0001945	Fever	HP:0040281	ORPHA:117
101928376	IL12A-AS1	HP:0001954	Recurrent fever	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0012649	Increased inflammatory response	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0000737	Irritability	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0000708	Atypical behavior	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0004420	Arterial thrombosis	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0100326	Immunologic hypersensitivity	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0012819	Myocarditis	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0003249	Genital ulcers	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0008066	Abnormal blistering of the skin	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0002829	Arthralgia	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0025532	Positive pathergy test	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0012219	Erythema nodosum	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0007813	Nongranulomatous uveitis	HP:0040282	ORPHA:117
101928376	IL12A-AS1	HP:0012378	Fatigue	HP:0040281	ORPHA:117
101928376	IL12A-AS1	HP:0001658	Myocardial infarction	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0001659	Aortic regurgitation	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0001653	Mitral regurgitation	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0001637	Abnormal myocardium morphology	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0001733	Pancreatitis	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0001701	Pericarditis	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0000488	Retinopathy	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0011107	Recurrent aphthous stomatitis	HP:0040281	ORPHA:117
101928376	IL12A-AS1	HP:0001744	Splenomegaly	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0000518	Cataract	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0001824	Weight loss	HP:0040283	ORPHA:117
101928376	IL12A-AS1	HP:0011227	Elevated circulating C-reactive protein concentration	HP:0040282	ORPHA:117
101929726	MYMX	HP:0001156	Brachydactyly	HP:0040281	ORPHA:1358
101929726	MYMX	HP:0001252	Hypotonia	HP:0040281	ORPHA:1358
101929726	MYMX	HP:0001249	Intellectual disability	HP:0040282	ORPHA:1358
101929726	MYMX	HP:0007360	Aplasia/Hypoplasia of the cerebellum	HP:0040283	ORPHA:1358
101929726	MYMX	HP:0002514	Cerebral calcification	HP:0040283	ORPHA:1358
101929726	MYMX	HP:0001324	Muscle weakness	2/2	OMIM:619941
101929726	MYMX	HP:0000007	Autosomal recessive inheritance	-	OMIM:619941
101929726	MYMX	HP:0002650	Scoliosis	HP:0040282	ORPHA:1358
101929726	MYMX	HP:0002650	Scoliosis	1/2	OMIM:619941
101929726	MYMX	HP:0000162	Glossoptosis	HP:0040282	ORPHA:1358
101929726	MYMX	HP:0000175	Cleft palate	HP:0040282	ORPHA:1358
101929726	MYMX	HP:0002705	High, narrow palate	2/2	OMIM:619941
101929726	MYMX	HP:0000126	Hydronephrosis	HP:0040283	ORPHA:1358
101929726	MYMX	HP:0002714	Downturned corners of mouth	2/2	OMIM:619941
101929726	MYMX	HP:0003327	Axial muscle weakness	1/2	OMIM:619941
101929726	MYMX	HP:0011805	Abnormal skeletal muscle morphology	2/2	OMIM:619941
101929726	MYMX	HP:0009465	Ulnar deviation of finger	HP:0040283	ORPHA:1358
101929726	MYMX	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:1358
101929726	MYMX	HP:0003593	Infantile onset	2/2	OMIM:619941
101929726	MYMX	HP:0100735	Hypertensive crisis	HP:0040283	ORPHA:1358
101929726	MYMX	HP:0010628	Facial palsy	HP:0040281	ORPHA:1358
101929726	MYMX	HP:0009751	Aplasia of the pectoralis major muscle	HP:0040283	ORPHA:1358
101929726	MYMX	HP:0006824	Cranial nerve paralysis	HP:0040282	ORPHA:1358
101929726	MYMX	HP:0000634	Impaired ocular abduction	HP:0040281	ORPHA:1358
101929726	MYMX	HP:0000678	Dental crowding	2/2	OMIM:619941
101929726	MYMX	HP:0004322	Short stature	HP:0040282	ORPHA:1358
101929726	MYMX	HP:0000807	Glanular hypospadias	HP:0040283	ORPHA:1358
101929726	MYMX	HP:0003198	Myopathy	HP:0040283	ORPHA:1358
101929726	MYMX	HP:0003196	Short nose	HP:0040281	ORPHA:1358
101929726	MYMX	HP:0010295	Aplasia/Hypoplasia of the tongue	HP:0040281	ORPHA:1358
101929726	MYMX	HP:0003202	Skeletal muscle atrophy	HP:0040281	ORPHA:1358
101929726	MYMX	HP:0030822	Hooded upper eyelid	2/2	OMIM:619941
101929726	MYMX	HP:0008081	Pes valgus	2/2	OMIM:619941
101929726	MYMX	HP:0000286	Epicanthus	HP:0040281	ORPHA:1358
101929726	MYMX	HP:0000252	Microcephaly	HP:0040282	ORPHA:1358
101929726	MYMX	HP:0000220	Velopharyngeal insufficiency	1/2	OMIM:619941
101929726	MYMX	HP:0000219	Thin upper lip vermilion	2/2	OMIM:619941
101929726	MYMX	HP:0000218	High palate	HP:0040282	ORPHA:1358
101929726	MYMX	HP:0000233	Thin vermilion border	HP:0040281	ORPHA:1358
101929726	MYMX	HP:0000201	Pierre-Robin sequence	HP:0040281	ORPHA:1358
101929726	MYMX	HP:0001508	Failure to thrive	1/2	OMIM:619941
101929726	MYMX	HP:0001510	Growth delay	HP:0040282	ORPHA:1358
101929726	MYMX	HP:0011094	Increased overbite	2/2	OMIM:619941
101929726	MYMX	HP:0001602	Laryngeal stenosis	HP:0040283	ORPHA:1358
101929726	MYMX	HP:0001600	Abnormality of the larynx	HP:0040283	ORPHA:1358
101929726	MYMX	HP:0001611	Hypernasal speech	1/2	OMIM:619941
101929726	MYMX	HP:0000358	Posteriorly rotated ears	1/2	OMIM:619941
101929726	MYMX	HP:0000369	Low-set ears	1/2	OMIM:619941
101929726	MYMX	HP:0000343	Long philtrum	HP:0040281	ORPHA:1358
101929726	MYMX	HP:0000343	Long philtrum	2/2	OMIM:619941
101929726	MYMX	HP:0000338	Hypomimic face	2/2	OMIM:619941
101929726	MYMX	HP:0000347	Micrognathia	HP:0040281	ORPHA:1358
101929726	MYMX	HP:0000347	Micrognathia	2/2	OMIM:619941
101929726	MYMX	HP:0030319	Weakness of facial musculature	2/2	OMIM:619941
101929726	MYMX	HP:0000494	Downslanted palpebral fissures	HP:0040281	ORPHA:1358
101929726	MYMX	HP:0000463	Anteverted nares	HP:0040281	ORPHA:1358
101929726	MYMX	HP:0000463	Anteverted nares	1/2	OMIM:619941
101929726	MYMX	HP:0000419	Abnormal nasal septum morphology	1/2	OMIM:619941
101929726	MYMX	HP:0000411	Protruding ear	2/2	OMIM:619941
101929726	MYMX	HP:0001762	Talipes equinovarus	HP:0040282	ORPHA:1358
101929726	MYMX	HP:0000430	Underdeveloped nasal alae	2/2	OMIM:619941
101929726	MYMX	HP:0001761	Pes cavus	2/2	OMIM:619941
101929726	MYMX	HP:0000508	Ptosis	HP:0040281	ORPHA:1358
105259599	-	HP:0001159	Syndactyly	-	OMIM:180860
105259599	-	HP:0010957	Congenital posterior urethral valve	-	OMIM:180860
105259599	-	HP:0003745	Sporadic	-	OMIM:180860
105259599	-	HP:0001263	Global developmental delay	-	OMIM:180860
105259599	-	HP:0000076	Vesicoureteral reflux	-	OMIM:130650
105259599	-	HP:0000069	Abnormality of the ureter	-	OMIM:180860
105259599	-	HP:0000047	Hypospadias	-	OMIM:180860
105259599	-	HP:0000028	Cryptorchidism	-	OMIM:130650
105259599	-	HP:0002667	Nephroblastoma	-	OMIM:130650
105259599	-	HP:0002667	Nephroblastoma	-	OMIM:180860
105259599	-	HP:0002667	Nephroblastoma	-	OMIM:194071
105259599	-	HP:0000006	Autosomal dominant inheritance	-	OMIM:180860
105259599	-	HP:0000006	Autosomal dominant inheritance	-	OMIM:130650
105259599	-	HP:0000006	Autosomal dominant inheritance	-	OMIM:194071
105259599	-	HP:0001305	Dandy-Walker malformation	HP:0040283	OMIM:130650
105259599	-	HP:0000158	Macroglossia	-	OMIM:130650
105259599	-	HP:0000150	Gonadoblastoma	-	OMIM:130650
105259599	-	HP:0006277	Pancreatic hyperplasia	-	OMIM:130650
105259599	-	HP:0000121	Nephrocalcinosis	-	OMIM:130650
105259599	-	HP:0001442	Typified by somatic mosaicism	-	OMIM:194071
105259599	-	HP:0000105	Enlarged kidney	-	OMIM:130650
105259599	-	HP:0001402	Hepatocellular carcinoma	-	OMIM:180860
105259599	-	HP:0002750	Delayed skeletal maturation	-	OMIM:180860
105259599	-	HP:0002714	Downturned corners of mouth	-	OMIM:180860
105259599	-	HP:0002007	Frontal bossing	-	OMIM:180860
105259599	-	HP:0011800	Midface retrusion	-	OMIM:130650
105259599	-	HP:0008186	Adrenocortical cytomegaly	-	OMIM:130650
105259599	-	HP:0010481	Urethral valve	-	OMIM:180860
105259599	-	HP:0002240	Hepatomegaly	-	OMIM:130650
105259599	-	HP:0001052	Nevus flammeus	-	OMIM:130650
105259599	-	HP:0008523	Posterior helix pit	-	OMIM:130650
105259599	-	HP:0100617	Testicular seminoma	-	OMIM:180860
105259599	-	HP:0032165	Placental mesenchymal dysplasia	-	OMIM:130650
105259599	-	HP:0004209	Clinodactyly of the 5th finger	-	OMIM:180860
105259599	-	HP:0004220	Short middle phalanx of the 5th finger	-	OMIM:180860
105259599	-	HP:0004227	Short distal phalanx of the 5th finger	-	OMIM:180860
105259599	-	HP:0001998	Neonatal hypoglycemia	-	OMIM:130650
105259599	-	HP:0005616	Accelerated skeletal maturation	-	OMIM:130650
105259599	-	HP:0000803	Renal cortical cysts	-	OMIM:130650
105259599	-	HP:0000787	Nephrolithiasis	-	OMIM:130650
105259599	-	HP:0003162	Fasting hypoglycemia	-	OMIM:180860
105259599	-	HP:0000824	Decreased response to growth hormone stimulation test	-	OMIM:180860
105259599	-	HP:0003247	Overgrowth of external genitalia	-	OMIM:130650
105259599	-	HP:0000957	Cafe-au-lait spot	-	OMIM:180860
105259599	-	HP:0000280	Coarse facial features	-	OMIM:130650
105259599	-	HP:0000270	Delayed cranial suture closure	-	OMIM:180860
105259599	-	HP:0000269	Prominent occiput	-	OMIM:130650
105259599	-	HP:0030062	Craniopharyngioma	-	OMIM:180860
105259599	-	HP:0000239	Large fontanelles	-	OMIM:130650
105259599	-	HP:0002884	Hepatoblastoma	-	OMIM:130650
105259599	-	HP:0001548	Overgrowth	-	OMIM:130650
105259599	-	HP:0001528	Hemihypertrophy	-	OMIM:130650
105259599	-	HP:0001540	Diastasis recti	-	OMIM:130650
105259599	-	HP:0001539	Omphalocele	-	OMIM:130650
105259599	-	HP:0001518	Small for gestational age	-	OMIM:180860
105259599	-	HP:0001511	Intrauterine growth retardation	-	OMIM:180860
105259599	-	HP:0000347	Micrognathia	-	OMIM:180860
105259599	-	HP:0000325	Triangular face	-	OMIM:180860
105259599	-	HP:0001626	Abnormality of the cardiovascular system	-	OMIM:180860
105259599	-	HP:0001640	Cardiomegaly	-	OMIM:130650
105259599	-	HP:0001638	Cardiomyopathy	-	OMIM:130650
105259599	-	HP:0006744	Adrenocortical carcinoma	-	OMIM:130650
105259599	-	HP:0005487	Prominent metopic ridge	-	OMIM:130650
105259599	-	HP:0005461	Craniofacial disproportion	-	OMIM:180860
105259599	-	HP:0000520	Proptosis	-	OMIM:130650
105259599	-	HP:0000592	Blue sclerae	-	OMIM:180860
105371045	PERCC1	HP:0025129	Abnormal small intestinal mucosa morphology	HP:0040282	ORPHA:92050
105371045	PERCC1	HP:0002570	Steatorrhea	HP:0040282	ORPHA:92050
105371045	PERCC1	HP:0001369	Arthritis	HP:0040283	ORPHA:92050
105371045	PERCC1	HP:0032486	Elevated fecal osmolality	HP:0040282	ORPHA:92050
105371045	PERCC1	HP:0000007	Autosomal recessive inheritance	-	OMIM:618662
105371045	PERCC1	HP:0002652	Skeletal dysplasia	HP:0040284	ORPHA:92050
105371045	PERCC1	HP:0002611	Cholestatic liver disease	HP:0040284	ORPHA:92050
105371045	PERCC1	HP:0002023	Anal atresia	HP:0040284	ORPHA:92050
105371045	PERCC1	HP:0002024	Malabsorption	HP:0040281	ORPHA:92050
105371045	PERCC1	HP:0002028	Chronic diarrhea	HP:0040281	ORPHA:92050
105371045	PERCC1	HP:0002014	Diarrhea	9/9	OMIM:618662
105371045	PERCC1	HP:0002013	Vomiting	HP:0040284	ORPHA:92050
105371045	PERCC1	HP:0011859	Punctate keratitis	HP:0040284	ORPHA:92050
105371045	PERCC1	HP:0200020	Corneal erosion	HP:0040283	ORPHA:92050
105371045	PERCC1	HP:0025090	Abnormal large intestinal mucosa morphology	HP:0040283	ORPHA:92050
105371045	PERCC1	HP:0000613	Photophobia	HP:0040283	ORPHA:92050
105371045	PERCC1	HP:0001944	Dehydration	HP:0040282	ORPHA:92050
105371045	PERCC1	HP:0000737	Irritability	HP:0040282	ORPHA:92050
105371045	PERCC1	HP:0011473	Villous atrophy	HP:0040281	ORPHA:92050
105371045	PERCC1	HP:0011473	Villous atrophy	3/9	OMIM:618662
105371045	PERCC1	HP:0003270	Abdominal distention	HP:0040282	ORPHA:92050
105371045	PERCC1	HP:0000951	Abnormality of the skin	HP:0040283	ORPHA:92050
105371045	PERCC1	HP:0000202	Orofacial cleft	HP:0040284	ORPHA:92050
105371045	PERCC1	HP:0001508	Failure to thrive	HP:0040281	ORPHA:92050
105371045	PERCC1	HP:0005208	Secretory diarrhea	HP:0040282	ORPHA:92050
105371045	PERCC1	HP:0000453	Choanal atresia	HP:0040284	ORPHA:92050
105371045	PERCC1	HP:0000518	Cataract	HP:0040283	ORPHA:92050
105371045	PERCC1	HP:0001824	Weight loss	HP:0040282	ORPHA:92050
105371045	PERCC1	HP:0000588	Optic disc coloboma	HP:0040284	ORPHA:92050
105804841	-	HP:0001177	Preaxial hand polydactyly	HP:0040281	OMIM:174500
105804841	-	HP:0001162	Postaxial hand polydactyly	HP:0040282	OMIM:174500
105804841	-	HP:0001159	Syndactyly	HP:0040282	OMIM:174500
105804841	-	HP:0009942	Duplication of thumb phalanx	HP:0040281	OMIM:174500
105804841	-	HP:0001199	Triphalangeal thumb	11/13	OMIM:188740
105804841	-	HP:0000006	Autosomal dominant inheritance	-	OMIM:188740
105804841	-	HP:0000006	Autosomal dominant inheritance	-	OMIM:174500
105804841	-	HP:0009606	Complete duplication of distal phalanx of the thumb	-	OMIM:174500
105804841	-	HP:0009556	Absent tibia	-	OMIM:188740
105804841	-	HP:0010503	Fibular duplication	1/13	OMIM:188740
105804841	-	HP:0003577	Congenital onset	13/13	OMIM:188740
105804841	-	HP:0010066	Duplication of phalanx of hallux	HP:0040282	OMIM:174500
105804841	-	HP:0005736	Short tibia	-	OMIM:188740
105804841	-	HP:0005866	Opposable triphalangeal thumb	HP:0040281	OMIM:174500
105804841	-	HP:0100258	Preaxial polydactyly	12/13	OMIM:188740
105804841	-	HP:0001841	Preaxial foot polydactyly	HP:0040282	OMIM:174500
105804841	-	HP:0001830	Postaxial foot polydactyly	HP:0040282	OMIM:174500
109580095	-	HP:0011906	Reduced beta/alpha synthesis ratio	-	OMIM:613985
109580095	-	HP:0004840	Hypochromic microcytic anemia	-	OMIM:613985
111365204	-	HP:0001135	Chorioretinal dystrophy	-	OMIM:600790
111365204	-	HP:0000006	Autosomal dominant inheritance	-	OMIM:136550
111365204	-	HP:0000006	Autosomal dominant inheritance	-	OMIM:600790
111365204	-	HP:0007663	Reduced visual acuity	6/6	OMIM:136550
111365204	-	HP:0007641	Dyschromatopsia	0/75	OMIM:136550
111365204	-	HP:0003593	Infantile onset	-	OMIM:136550
111365204	-	HP:0200070	Peripheral retinal atrophy	-	OMIM:136550
111365204	-	HP:0000639	Nystagmus	-	OMIM:600790
111365204	-	HP:0000603	Central scotoma	-	OMIM:136550
111365204	-	HP:0011510	Drusen	-	OMIM:136550
111365204	-	HP:0008002	Abnormality of macular pigmentation	-	OMIM:136550
111365204	-	HP:0007754	Macular dystrophy	6/6	OMIM:136550
111365204	-	HP:0000505	Visual impairment	-	OMIM:600790
111365204	-	HP:0000541	Retinal detachment	-	OMIM:600790
111365204	-	HP:0000533	Chorioretinal atrophy	-	OMIM:600790
111365204	-	HP:0000545	Myopia	-	OMIM:600790
120766137	HRURF	HP:0000006	Autosomal dominant inheritance	-	OMIM:146550
120766137	HRURF	HP:0003577	Congenital onset	4/4	OMIM:146550
120766137	HRURF	HP:0002231	Sparse body hair	3/4	OMIM:146550
120766137	HRURF	HP:0002209	Sparse scalp hair	1/4	OMIM:146550
120766137	HRURF	HP:0000653	Sparse eyelashes	-	OMIM:146550
120766137	HRURF	HP:0045075	Sparse eyebrow	4/4	OMIM:146550
120766137	HRURF	HP:0001596	Alopecia	1/4	OMIM:146550
120766137	HRURF	HP:0030056	Uncombable hair	1/1	OMIM:146550